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
WHAMM	123720	broad.mit.edu	37	15	83499448	83499448	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83499448C>T	uc002bje.3	+	8	2245	c.1739C>T	c.(1738-1740)tCc>tTc	p.S580F		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules (WHAMM), mRNA.	580						ER-Golgi intermediate compartment|Golgi apparatus|cytoplasmic vesicle membrane	actin binding			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						TTGCCAGCTTCCCACGCGGTG	0.512000														197			16		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189586379	189586379	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:189586379C>T	uc003fry.2	+	7	1092	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L	TP63_uc003frx.2_Silent_p.L335L|TP63_uc003frz.2_Silent_p.L335L|TP63_uc010hzc.1_Silent_p.L335L|TP63_uc003fsa.2_Silent_p.L241L|TP63_uc003fsb.2_Silent_p.L241L|TP63_uc003fsc.2_Silent_p.L241L|TP63_uc003fsd.2_Silent_p.L241L|TP63_uc021xir.1_Silent_p.L241L|TP63_uc010hzd.1_Silent_p.L156L|TP63_uc003fse.1_Silent_p.L216L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	335					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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGGGCAAGTCCTGGGCCGACG	0.488000										HNSCC(45;0.13)				58			21		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703934	4703934	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4703934G>A	uc001lzk.2	-	1	252	c.8C>T	c.(7-9)tCc>tTc	p.S3F	OR51E2_uc021qcr.1_Missense_Mutation_p.S3F	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S3S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAAGTTGCAGGAACTCATAGC	0.507000														31			17		0	0	1	0	0
LOC285501	285501	broad.mit.edu	37	4	178881973	178881973	+	RNA	SNP	C	T	T	rs148169804	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:178881973C>T	uc010iru.3	+	2		c.432C>T								Homo sapiens uncharacterized LOC285501 (LOC285501), non-coding RNA.														all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236)		all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884)		AAATATATTTCTTTCCGGGGA	0.348000														62			34		0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70968663	70968663	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:70968663C>T	uc001jpe.1	+	14	2288	c.2233C>T	c.(2233-2235)Cca>Tca	p.P745S	SUPV3L1_uc010qjd.1_Missense_Mutation_p.P614S	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA.	745	Interaction with HBXIP, important for protein stability.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	p.P745A(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACTCCTCACTCCAGACATGCT	0.502000														50			17		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57938654	57938654	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:57938654G>A	uc002emt.2	-	25	2683	c.2618C>T	c.(2617-2619)tCt>tTt	p.S873F	CNGB1_uc010cdh.2_Missense_Mutation_p.S867F	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	873					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GATCATCACAGAGAAAGCAAA	0.572000														150			17		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228469732	228469732	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228469732G>A	uc009xez.1	+	30	8340	c.8296G>A	c.(8296-8298)Gac>Aac	p.D2766N	OBSCN_uc001hsn.3_Missense_Mutation_p.D2766N|OBSCN_uc001hsp.1_Missense_Mutation_p.D465N|OBSCN_uc001hsq.1_Missense_Mutation_p.D22N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2766	Ig-like 27.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGTGCCAGCGACCCGGCCAT	0.617000														25			18		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115453026	115453026	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:115453026G>A	uc001efr.3	+	16	1538	c.1329G>A	c.(1327-1329)aaG>aaA	p.K443K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.K443K|SYCP1_uc009wgw.3_Silent_p.K443K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	443					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)		AGGGAGAAAAGGAAACACTTT	0.338000														81			12		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37670821	37670821	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:37670821G>A	uc003chd.3	+	15	1886	c.1833G>A	c.(1831-1833)aaG>aaA	p.K611K	ITGA9_uc003chc.3_Silent_p.K611K	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	611					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TTGCCCAAAAGAATCAGGTCA	0.532000														24			8		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216243581	216243581	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:216243581T>C	uc001hku.1	-	29	6298	c.5911A>G	c.(5911-5913)Att>Gtt	p.I1971V		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1971	Fibronectin type-III 6.				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)		GTCACCTCAATGCTGTATCCA	0.478000										HNSCC(13;0.011)				52			26		0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161954026	161954026	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161954026G>A	uc010pkq.2	-	7	2119	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	OLFML2B_uc001gbt.3_Silent_p.I47I|OLFML2B_uc001gbu.3_Silent_p.I564I	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	564	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGCCTGTGCCGATCCAGCTGT	0.582000														73			19		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614674	3614674	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3614674G>A	uc010btn.3	-	4	675	c.264C>T	c.(262-264)gcC>gcT	p.A88A		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	88					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGGAGGGAGGCCAGCCTGT	0.706000														16			4		0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104192174	104192174	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104192174G>A	uc004bbk.2	-	2	269	c.187C>T	c.(187-189)Ctc>Ttc	p.L63F		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	63					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ACAGAGAAGAGGATTTCTCGG	0.552000														103			54		0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48884612	48884612	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48884612G>A	uc001rrr.3	+	5	317	c.186G>A	c.(184-186)cgG>cgA	p.R62R	C12orf54_uc009zky.1_Non-coding_Transcript	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA.	62										endometrium(1)|large_intestine(4)	5						AAGATGCTCGGATTCGAGGTA	0.433000														105			51		0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49898976	49898976	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49898976C>T	uc003cxt.1	-	4	530	c.337G>A	c.(337-339)Gac>Aac	p.D113N	CAMKV_uc011bcy.1_Missense_Mutation_p.D38N|CAMKV_uc003cxv.1_Missense_Mutation_p.D113N|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Missense_Mutation_p.D113N|CAMKV_uc011bcz.1_Missense_Mutation_p.D76N|CAMKV_uc011bda.1_Intron|CAMKV_uc011bdb.1_Intron	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	113	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TAGCCCTGGTCCAGGATCCAG	0.612000														60			20		0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231775112	231775112	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:231775112C>T	uc021vxz.1	-	0	566	c.566G>A	c.(565-567)gGc>gAc	p.G189D	GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Missense_Mutation_p.G189D|GPR55_uc010fxs.1_Missense_Mutation_p.G189D	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA.	189					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AAGGAGGAAGCCAAACACCTC	0.547000														121			31		0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39377166	39377166	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:39377166G>A	uc003jlx.3	-	11	2254	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S	DAB2_uc003jlw.3_Missense_Mutation_p.P554S	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	575					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GATGCAGAAGGGCCCCAGACA	0.532000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			29		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913368	6913368	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6913368G>A	uc010rau.2	-	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCAACATAGCGATCATAGGAC	0.483000														32			51		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179476172	179476172	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179476172C>T	uc021vsy.1	-	217	43305	c.43080G>A	c.(43078-43080)gtG>gtA	p.V14360V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V8055V|TTN_uc021vta.1_Silent_p.V7988V|TTN_uc021vtb.1_Silent_p.V7863V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15287							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K14359E(1)		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)			TGACTGCTCTCACTCTCAGGA	0.418000														88			18		0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49146461	49146461	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49146461G>A	uc003cwd.2	-	25	4206	c.3887C>T	c.(3886-3888)aCc>aTc	p.T1296I	USP19_uc003cwa.3_Intron|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Intron|USP19_uc011bcg.2_Intron|USP19_uc003cwc.2_Missense_Mutation_p.T1054I|USP19_uc011bch.2_Missense_Mutation_p.T1397I	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	1296					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCCGCCACGGTGCCCAGGAC	0.662000														17			4		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123457790	123457790	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:123457790G>A	uc003ego.3	-	6	824	c.542C>T	c.(541-543)tCc>tTc	p.S181F	MYLK_uc011bjw.2_Missense_Mutation_p.S181F|MYLK_uc003egp.3_Missense_Mutation_p.S181F|MYLK_uc003egq.3_Missense_Mutation_p.S181F|MYLK_uc003egr.3_Missense_Mutation_p.S181F|MYLK_uc003egs.3_Missense_Mutation_p.S5F|MYLK_uc010hrs.1_Missense_Mutation_p.S181F	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	181	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GATCTTGCAGGAGAATCGTCC	0.572000														27			7		0	0	1	0	0
FOLR1	2348	broad.mit.edu	37	11	71903228	71903228	+	Missense_Mutation	SNP	G	A	A	rs145380453		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:71903228G>A	uc001orz.2	+	2	287	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	FOLR1_uc001osa.2_Missense_Mutation_p.R4Q|FOLR1_uc001osb.2_Missense_Mutation_p.R4Q|FOLR1_uc001osd.2_Missense_Mutation_p.R4Q	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	4					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						ATGGCTCAGCGGATGACAACA	0.577000														69			25		0	0	1	0	0
SERPINF2	5345	broad.mit.edu	37	17	1655922	1655922	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:1655922C>T	uc002ftk.1	+	8	978	c.901C>T	c.(901-903)Ctt>Ttt	p.L301F	SERPINF2_uc010vqr.1_Missense_Mutation_p.L237F|SERPINF2_uc021tnm.1_Missense_Mutation_p.L301F	NM_000934	NP_001159392	P08697	A2AP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA.	301					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	CTTTGTGGTCCTTGTACCCAC	0.547000														79			6		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50596572	50596572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50596572C>T	uc003bjj.3	+	22	3236	c.3153C>T	c.(3151-3153)gcC>gcT	p.A1051A	MOV10L1_uc003bjk.4_Silent_p.A1051A|MOV10L1_uc011arp.2_Silent_p.A1031A|MOV10L1_uc003bjl.3_Silent_p.A178A|MOV10L1_uc003bjm.1_Silent_p.A94A	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1051					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GCCTCCTGGCCCACAGCATCT	0.652000														55			13		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228482721	228482721	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228482721C>T	uc009xez.1	+	42	11680	c.11636C>T	c.(11635-11637)aCc>aTc	p.T3879I	OBSCN_uc001hsn.3_Missense_Mutation_p.T3879I|OBSCN_uc001hsq.1_Missense_Mutation_p.T1135I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3879	Ig-like 39.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGAGAGGACCTCGGCCACA	0.582000														89			35		0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75500155	75500155	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75500155G>A	uc001xrd.1	-	6	3898	c.3682C>T	c.(3682-3684)Cat>Tat	p.H1228Y	MLH3_uc001xre.1_Intron|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	1228					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.R1227L(1)|p.H1228N(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ATACGCTCATGGGCAGCGTGC	0.478000								Mismatch excision repair (MMR)						42			15		0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56349080	56349081	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56349080_56349081GG>AT	uc002ivu.1	-	10	2142_2143	c.1965_1966CC>AT	c.(1963-1968)ggccgc>ggATgc	p.R656C		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	656					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GGGCCCACGCGGCCTTTGCGCT	0.634000														36			13		0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96267073	96267073	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96267073C>T	uc001kjr.2	+	6	1754	c.1569C>T	c.(1567-1569)ttC>ttT	p.F523F		NM_015188	NP_056003	O60347	TBC12_HUMAN	Homo sapiens TBC1 domain family, member 12 (TBC1D12), mRNA.	523	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GGAAAAGTTTCAGTGAAACAA	0.338000														85			16		0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110163726	110163726	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110163726T>C	uc009wfh.1	+	1	633	c.91T>C	c.(91-93)Ttg>Ctg	p.L31L	AMPD2_uc009wfg.1_Intron|AMPD2_uc001dyb.1_Intron|AMPD2_uc001dyc.1_Silent_p.L31L|AMPD2_uc010ovr.1_5'UTR|AMPD2_uc010ovs.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	31					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAGGAAGGGGTTGGATGTGGC	0.672000														16			4		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330444	125330444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125330444G>A	uc004bmp.1	-	0	313	c.313C>T	c.(313-315)Ctc>Ttc	p.L105F		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAGGCATAGAGAAAATACATC	0.488000														52			28		0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39224351	39224351	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:39224351C>T	uc003awk.3	-	1	945	c.791G>A	c.(790-792)aGg>aAg	p.R264K		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	264						integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CACTTCCTGCCTCTGCCGGCG	0.652000														42			22		0	0	1	0	0
PAGE4	9506	broad.mit.edu	37	X	49597176	49597176	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:49597176G>A	uc004don.1	+	3	294	c.215G>A	c.(214-216)cGg>cAg	p.R72Q		NM_007003	NP_008934	O60829	GAGC1_HUMAN	Homo sapiens P antigen family, member 4 (prostate associated) (PAGE4), mRNA.	72												Ovarian(276;0.236)					GAAAAGACTCGGAGTGAGCGT	0.358000														30			7		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870938	51870938	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:51870938C>T	uc002xwo.3	+	1	1828	c.941C>T	c.(940-942)tCg>tTg	p.S314L	TSHZ2_uc021wex.1_Missense_Mutation_p.S311L	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	314					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACCATTTCCTCGAAAATGGTC	0.458000														100			10		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1418759	1418759	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:1418759G>A	uc003boz.3	+	17	2433	c.2166_splice	c.e17+1	p.E722_splice	CNTN6_uc011asj.2_Splice_Site_p.E650_splice|CNTN6_uc003bpa.3_Splice_Site_p.E722_splice	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	722	Fibronectin type-III 2.				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)		TTACGTGGGAGGTAATTTTCT	0.398000														99			43		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4201467	4201467	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:4201467C>T	uc003smx.3	+	31	4918	c.4779C>T	c.(4777-4779)tcC>tcT	p.S1593S	SDK1_uc010kso.3_Silent_p.S869S|SDK1_uc003smy.3_Silent_p.S80S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1593	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACACCACGTCCTCTGTCCTGA	0.562000														116			44		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960771	73960771	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	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														18			28		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137748500	137748500	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:137748500A>T	uc002tva.1	+	0	39	c.39A>T	c.(37-39)aaA>aaT	p.K13N	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTATCACAAATTAGCAGGTA	0.393000														5			6		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377374	77377374	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77377374C>T	uc004ajl.1	-	25	4451	c.4213G>A	c.(4213-4215)Gaa>Aaa	p.E1405K	TRPM6_uc004ajk.1_Missense_Mutation_p.E1400K|TRPM6_uc022bib.1_Missense_Mutation_p.E1400K|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.E361K	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1405					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E1405K(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCGTGCTTTTCCTTGGGTTCA	0.512000														61			25		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361307	107361307	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107361307G>A	uc011lvp.2	-	0	388	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GGATATCTCAGAGGGTTGCAG	0.512000														86			18		0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233348889	233348889	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233348889C>T	uc002vsv.2	-	6	1434	c.1229G>A	c.(1228-1230)aGt>aAt	p.S410N	ECEL1_uc010fya.1_Missense_Mutation_p.S410N|ECEL1_uc010fyb.1_Missense_Mutation_p.S117N	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	410					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CAGGTGTTCACTCAGGACCAC	0.647000														33			7		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639790	3639790	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3639790G>A	uc002cvp.2	-	11	4476	c.3849C>T	c.(3847-3849)gcC>gcT	p.A1283A		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1283	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.A1283V(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCGCCTGCACGGCCAGCCCGC	0.632000								Direct reversal of damage						81			41		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090630	9090630	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9090630G>A	uc002mkp.3	-	0	1389	c.1185C>T	c.(1183-1185)acC>acT	p.T395T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	395	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						TGCCACCAAGGGTACCTGGAC	0.512000														44			10		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531877	42531877	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:42531877G>A	uc010dni.3	+	3	2868	c.2572G>A	c.(2572-2574)Gag>Aag	p.E858K		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	858						nucleus	DNA binding	p.K858N(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCCTGTGAGCGAGTCCCACAG	0.572000									Schinzel-Giedion syndrome					31			13		0	0	1	0	0
LOC644189	644189	broad.mit.edu	37	19	36912833	36912833	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36912833G>A	uc002odz.1	+	0		c.758G>A								Homo sapiens acyl-CoA thioesterase 4 pseudogene (LOC644189), non-coding RNA.																		AAGGGGTGCGGAGCGATTCGG	0.662000														24			7		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125877456	125877456	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:125877456G>A	uc003eim.1	-	2	344	c.154C>T	c.(154-156)Ccg>Tcg	p.P52S	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.P52S|ALDH1L1_uc003eio.3_5'Flank|ALDH1L1_uc010hsf.1_Missense_Mutation_p.P78S|ALDH1L1_uc003eip.1_5'UTR|ALDH1L1_uc011bkj.1_Intron	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	52	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTGAATACCGGCACTCCATCC	0.582000														107			19		0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158974450	158974450	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:158974450G>A	uc002tzo.3	+	6	645	c.625_splice	c.e6+1	p.G209_splice	UPP2_uc002tzp.3_Splice_Site_p.G152_splice	NM_001135098	NP_775491	O95045	UPP2_HUMAN	Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.	152					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						AGGGGGAATAGGTGAGACGGA	0.433000														95			29		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102337662	102337662	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:102337662C>T	uc003pqp.4	+	10	1965	c.1672C>T	c.(1672-1674)Cct>Tct	p.P558S	GRIK2_uc003pqn.3_Missense_Mutation_p.P558S|GRIK2_uc010kcw.3_Missense_Mutation_p.P558S|GRIK2_uc003pqo.4_Missense_Mutation_p.P558S|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	558					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)	CTTCCTGAATCCTCTCTCCCC	0.448000														119			62		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947048	237947048	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:237947048G>A	uc001hyl.1	+	89	12156	c.12036G>A	c.(12034-12036)atG>atA	p.M4012I	RYR2_uc010pya.2_Missense_Mutation_p.M427I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4012					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)			ACGTGGAGATGATTCTCAAAT	0.383000														21			6		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16638370	16638370	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:16638370C>T	uc002gqk.1	+	11	2861	c.2785C>T	c.(2785-2787)Caa>Taa	p.Q929*	CCDC144A_uc002gql.1_Nonsense_Mutation_p.Q399*|CCDC144A_uc010cpj.1_Non-coding_Transcript	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	929																	TGACTGTGATCAAAGTCAGAC	0.408000														12			14		0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27838116	27838116	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27838116C>T	uc002rla.3	+	10	1300	c.1213C>T	c.(1213-1215)Cgt>Tgt	p.R405C	ZNF512_uc010ylw.2_Missense_Mutation_p.R376C|ZNF512_uc002rlb.3_Missense_Mutation_p.R326C|ZNF512_uc010ylx.2_Missense_Mutation_p.R326C|ZNF512_uc002rlc.3_Missense_Mutation_p.R326C|ZNF512_uc010ylv.2_Missense_Mutation_p.R326C|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_Missense_Mutation_p.R298C	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	Homo sapiens zinc finger protein 512 (ZNF512), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GAAATATCATCGTATTCAGTG	0.373000														153			38		0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15203859	15203859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:15203859C>T	uc003zlr.2	-	6	758	c.721G>A	c.(721-723)Gag>Aag	p.E241K	TTC39B_uc003zlq.2_Missense_Mutation_p.E144K|TTC39B_uc011lmp.2_Missense_Mutation_p.E76K|TTC39B_uc010mie.2_Missense_Mutation_p.E239K|TTC39B_uc011lmr.2_Missense_Mutation_p.E172K|TTC39B_uc011lmq.2_Missense_Mutation_p.E241K|TTC39B_uc010mif.2_Missense_Mutation_p.E241K|TTC39B_uc003zls.1_Missense_Mutation_p.E76K|TTC39B_uc010mig.1_Missense_Mutation_p.E144K|TTC39B_uc011lms.2_Non-coding_Transcript	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	175							binding	p.A241S(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						AGGAGACACTCGGCATAACAG	0.388000														27			11		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107677897	107677897	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107677897C>T	uc010ljo.1	-	29	4699	c.4615G>A	c.(4615-4617)Gaa>Aaa	p.E1539K	LAMB4_uc003vey.2_Missense_Mutation_p.E1539K|LAMB4_uc010ljp.1_Missense_Mutation_p.E508K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1539	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AACCTGTTTTCATCTGTCCTG	0.388000														252			77		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7059991	7059991	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7059991G>A	uc001mfb.1	+	1	497	c.174G>A	c.(172-174)ctG>ctA	p.L58L		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	58	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGGAGGACCTGGCCAATTTGA	0.458000														82			18		0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247209	142247209	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142247209G>A	uc003vyd.4	-	1	272	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GCAAAGAACCGATCGTTGGGC	0.572000														99			38		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125274	12125274	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:12125274C>T	uc003nac.3	+	3	5425	c.5246C>T	c.(5245-5247)tCc>tTc	p.S1749F	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1749					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGGATGCTTTCCCCAGCAAAT	0.433000														85			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222493	140222493	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140222493G>A	uc003lhs.2	+	0	1587	c.1587G>A	c.(1585-1587)gaG>gaA	p.E529E	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_uc003lhr.1_Silent_p.E529E	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	543	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGCTAGAGCTGCTGCAGT	0.677000														39			69		0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143853238	143853238	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:143853238G>A	uc003lnm.1	+	3	1477	c.848G>A	c.(847-849)tGg>tAg	p.W283*	KCTD16_uc003lnn.1_Nonsense_Mutation_p.W283*	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	283						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CCTTCCAGATGGTCACCCTCA	0.507000														69			24		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43680132	43680132	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43680132C>T	uc002ovu.3	-	2	730	c.599G>A	c.(598-600)aGg>aAg	p.R200K	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.R200K	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	200	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AATGAGGATCCTGTTTTCAAT	0.507000														197			79		0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105361807	105361807	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105361807G>A	uc010qqu.1	-	11	2980	c.2913C>T	c.(2911-2913)tcC>tcT	p.S971S	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Silent_p.S863S|SH3PXD2A_uc010qqt.1_Silent_p.S905S|SH3PXD2A_uc009xxn.1_Silent_p.S863S|SH3PXD2A_uc001kxj.1_Silent_p.S1028S	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	1056					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGCGCACAGGGGACACGGGTA	0.627000														129			52		0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61223558	61223558	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61223558G>A	uc010xeo.2	+	0	166	c.166G>A	c.(166-168)Gag>Aag	p.E56K	SERPINB12_uc010xen.2_Missense_Mutation_p.E56K	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	56					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCAGATTGATGAGGTACGTGT	0.498000														116			60		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449242	104449242	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104449242G>A	uc004bbp.2	-	1	1541	c.940C>T	c.(940-942)Cag>Tag	p.Q314*	GRIN3A_uc004bbq.1_Nonsense_Mutation_p.Q314*	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	314					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTCTCAAGCTGGATCTGTAGG	0.488000														50			26		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53907746	53907746	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:53907746C>T	uc002acj.2	-	14	2699	c.2657G>A	c.(2656-2658)aGa>aAa	p.R886K	WDR72_uc010bfi.1_Missense_Mutation_p.R886K	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	886										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTCCAATCCTCTTGGAATTCC	0.313000														69			13		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149508805	149508805	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149508805G>A	uc010lpk.3	+	67	9535	c.9535_splice	c.e67+1	p.G3179_splice		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3182					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTGTGCGGAGGGTAAGGAAGC	0.632000														123			16		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18715676	18715676	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:18715676G>A	uc001rdt.3	+	25	3623	c.3507G>A	c.(3505-3507)ttG>ttA	p.L1169L	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.L1210L|PIK3C2G_uc010sic.2_Silent_p.L988L	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1169	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTGTTAAATTGAATAACTTGA	0.383000														18			4		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452929	138452929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:138452929G>A	uc003ihe.4	-	0	701	c.314C>T	c.(313-315)tCc>tTc	p.S105F	PCDH18_uc003ihf.4_Missense_Mutation_p.S98F|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	105	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AAACTCTATGGAACAGTTCAA	0.413000														174			65		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88678521	88678521	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:88678521C>T	uc002bme.2	-	9	1321	c.1015G>A	c.(1015-1017)Ggg>Agg	p.G339R	NTRK3_uc002bmh.2_Missense_Mutation_p.G339R|NTRK3_uc002bmf.2_Missense_Mutation_p.G339R|NTRK3_uc021sua.1_Missense_Mutation_p.G339R|NTRK3_uc010upl.1_Missense_Mutation_p.G241R|NTRK3_uc010bnh.1_Missense_Mutation_p.G339R|NTRK3_uc002bmg.3_Missense_Mutation_p.G339R	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	339	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGAGGCTGCCCATTGTGCAGC	0.592000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				107			16		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241727533	241727533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241727533C>T	uc010fzk.3	-	3	545	c.298G>A	c.(298-300)Ggt>Agt	p.G100S	KIF1A_uc002vzy.3_Missense_Mutation_p.G100S|KIF1A_uc002vzz.2_Missense_Mutation_p.G100S	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	100	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TTGCCGGCACCCGTCTGCCCA	0.642000														10			4		0	0	1	0	0
FAM153C	653316	broad.mit.edu	37	5	177473889	177473889	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:177473889C>T	uc011dge.2	+	9	497	c.290C>T	c.(289-291)tCc>tTc	p.S97F						Homo sapiens family with sequence similarity 153, member C (FAM153C), non-coding RNA.											kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAAGTCCTTCCTCTGCACCT	0.527000														82			26		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43821548	43821548	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43821548G>A	uc001zrt.3	+	3	8344	c.7877G>A	c.(7876-7878)gGa>gAa	p.G2626E		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2626						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GATCTTCGGGGAAAACGCTCA	0.657000														66			32		0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183226214	183226214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183226214G>A	uc003flr.3	-	2	600	c.542C>T	c.(541-543)gCt>gTt	p.A181V	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Missense_Mutation_p.A179V	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	181	BACK.							p.A181A(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTGTGTGTCAGCCAGCCTCAG	0.488000														85			31		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123540242	123540242	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:123540242C>T	uc010nqy.3	-	25	5144	c.5080G>A	c.(5080-5082)Gat>Aat	p.D1694N	ODZ1_uc011muj.2_Missense_Mutation_p.D1693N|ODZ1_uc004euj.3_Missense_Mutation_p.D1687N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1687					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.D1689H(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TTGGAAGTATCTAGCTCCACT	0.458000														81			40		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	54015097	54015097	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54015097C>T	uc002acj.2	-	2	204	c.162G>A	c.(160-162)gcG>gcA	p.A54A	WDR72_uc010bfi.1_Silent_p.A54A	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	54								p.A54A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GGAGTTCTTTCGCTGAAATCT	0.353000														136			16		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108383934	108383934	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:108383934T>A	uc001pkk.3	-	5	2411	c.2300A>T	c.(2299-2301)aAa>aTa	p.K767I	EXPH5_uc010rvz.2_Missense_Mutation_p.K611I|EXPH5_uc010rvy.2_Missense_Mutation_p.K579I	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	767					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GGGTGACTTTTTTGAACTTAT	0.378000														144			64		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37354527	37354527	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:37354527C>T	uc022abv.1	-	4	830	c.120_splice	c.e4-1	p.G40_splice	ELMO1_uc003tfk.2_Splice_Site_p.G40_splice|ELMO1_uc010kxg.2_Splice_Site_p.G40_splice	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	40					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AAGAGACCACCTTAAAAATAC	0.343000														30			7		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304454	3304454	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3304454C>T	uc002cun.1	-	1	654	c.614G>A	c.(613-615)aGa>aAa	p.R205K	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	205					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.R204C(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GCTGGCGTTTCTGCGCAGCCG	0.756000														21			10		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42128605	42128605	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:42128605G>A	uc003baz.1	+	10	1354	c.1329G>A	c.(1327-1329)ctG>ctA	p.L443L	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc003bay.3_Silent_p.L443L|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	443							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTGCTTTTCTGAGGTGAGAGA	0.542000														46			16		0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89531571	89531571	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:89531571C>T	uc001pdb.3	-	7	1415	c.1086G>A	c.(1084-1086)cgG>cgA	p.R362R		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	362	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TCTTCTCTTTCCGATACATAT	0.453000														146			42		0	0	1	0	0
MGST2	4258	broad.mit.edu	37	4	140616381	140616381	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:140616381C>T	uc003ihy.3	+	2	441	c.189C>T	c.(187-189)ttC>ttT	p.F63F	MGST2_uc021xsf.1_Silent_p.F63F|MGST2_uc010ioi.1_5'UTR|MGST2_uc021xse.1_Intron	NM_002413	NP_001191296	Q99735	MGST2_HUMAN	Homo sapiens microsomal glutathione S-transferase 2 (MGST2), transcript variant 1, mRNA.	63					glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Glutathione(DB00143)	ATCCTATATTCATAATTACAT	0.318000														64			12		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237753151	237753151	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:237753151G>A	uc001hyl.1	+	29	3777	c.3657G>A	c.(3655-3657)aaG>aaA	p.K1219K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1219	4 X approximate repeats.|B30.2/SPRY 2.				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)			ACTTTGGAAAGGATGTCAGCA	0.408000														45			14		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20682893	20682893	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:20682893G>A	uc010kuh.3	+	5	638	c.401G>A	c.(400-402)cGa>cAa	p.R134Q		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	318	ABC transporter 1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ACTGCAGCACGACAGACCAAG	0.418000														27			15		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072667	17072667	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17072667C>T	uc002zlp.1	-	0	1034	c.774G>A	c.(772-774)acG>acA	p.T258T		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	258					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AAAGACGGGCCGTTGCTGGTG	0.507000														96			40		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166152463	166152463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166152463G>A	uc002udc.3	+	1	420	c.130G>A	c.(130-132)Gag>Aag	p.E44K	SCN2A_uc002udd.3_Missense_Mutation_p.E44K|SCN2A_uc002ude.3_Missense_Mutation_p.E44K	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	44					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACGCAAGGATGAGGATGATGA	0.463000														47			7		0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25145731	25145731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25145731C>T	uc003abd.1	-	9	1562	c.1145G>A	c.(1144-1146)aGa>aAa	p.R382K	PIWIL3_uc011ajx.1_Missense_Mutation_p.R273K|PIWIL3_uc010gut.1_Missense_Mutation_p.R382K|PIWIL3_uc011ajy.1_Missense_Mutation_p.R273K	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	382	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTTTTTCCATCTGCCCTGGCT	0.463000														58			20		0	0	1	0	0
GGA2	23062	broad.mit.edu	37	16	23492068	23492068	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23492068G>A	uc002dlq.3	-	9	987	c.904C>T	c.(904-906)Ctc>Ttc	p.L302F	GGA2_uc010bxo.2_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	302	GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TGGGTGAGGAGGTCATTTGCC	0.498000														56			28		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146673593	146673593	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:146673593A>T	uc010khw.1	+	4	1864	c.1394A>T	c.(1393-1395)gAg>gTg	p.E465V	GRM1_uc010khv.1_Missense_Mutation_p.E465V|GRM1_uc003qll.2_Missense_Mutation_p.E465V|GRM1_uc011edz.1_Missense_Mutation_p.E465V|GRM1_uc011eea.1_Missense_Mutation_p.E465V	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	465					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GTATCTGGAGAGGAGGTGTGG	0.522000														126			45		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6965357	6965357	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:6965357G>A	uc002knm.3	-	49	7219	c.7125C>T	c.(7123-7125)acC>acT	p.T2375T	LAMA1_uc002knl.3_5'UTR|LAMA1_uc010wzj.2_Silent_p.T1851T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2375	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTCAAAAGGGTAATGGGTC	0.463000														93			40		0	0	1	0	0
MOCS2	4338	broad.mit.edu	37	5	52394456	52394456	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:52394456C>A	uc003joz.3	-	6	957	c.543G>T	c.(541-543)gaG>gaT	p.E181D	MOCS2_uc011cqf.2_3'UTR	NM_004531	NP_004522	O96033	MOC2A_HUMAN	Homo sapiens molybdenum cofactor synthesis 2 (MOCS2), transcript variant 3, mRNA.	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCCAAAAGCACTCTTTGTTTC	0.279000														81			29		8.16721e-17	8.20681e-17	1	1	0
PTPRT	11122	broad.mit.edu	37	20	41306651	41306651	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:41306651C>T	uc002xkg.3	-	6	1192	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E	PTPRT_uc010ggj.3_Silent_p.E336E	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	336	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.E336A(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTATGTGGGTCTCTGCCCACG	0.552000														92			41		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275341	71275341	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71275341T>A	uc003hfi.3	+	2	470	c.296T>A	c.(295-297)tTt>tAt	p.F99Y		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	99	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CCTCGACTCTTTCCGGGTTAT	0.418000														180			70		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	140781	140781	+	Missense_Mutation	SNP	G	A	A	rs143686104	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140781G>A	uc003jak.2	+	0	409	c.359G>A	c.(358-360)gGg>gAg	p.G120E		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	120					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAAGCTGTGGGGACCCCAAAC	0.662000														27			11		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163754	159163754	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159163754G>A	uc001ftl.2	+	4	794	c.615G>A	c.(613-615)gcG>gcA	p.A205A	CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Silent_p.A239A	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	205	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	p.A239A(1)		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)					ATGATGGGGCGAGCATCGTGT	0.502000														59			29		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256502	24256502	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24256502G>A	uc003xdz.2	+	8	1098	c.878G>A	c.(877-879)tGg>tAg	p.W293*	ADAMDEC1_uc010lub.2_Nonsense_Mutation_p.W214*|ADAMDEC1_uc011lab.1_Nonsense_Mutation_p.W214*	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	293	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTCCTGAGATGGCACAGTTCT	0.507000														44			16		0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23292929	23292929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:23292929G>A	uc003xdl.3	-	10	1708	c.1436C>T	c.(1435-1437)tCt>tTt	p.S479F	ENTPD4_uc011kzu.1_Missense_Mutation_p.S471F|ENTPD4_uc003xdm.3_Missense_Mutation_p.S471F|ENTPD4_uc011kzv.1_Missense_Mutation_p.S479F	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA.	479					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GTCAGCATGAGAGGCGTACAG	0.478000														29			7		0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46288297	46288297	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:46288297G>A	uc001van.1	+	2	1217	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E	SPERT_uc001vao.2_Silent_p.E343E	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	379						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		TGCAGGAGGAGAACAGGACCC	0.657000														15			4		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738894	176738894	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176738894C>T	uc001gkz.3	+	15	5639	c.4475C>T	c.(4474-4476)tCt>tTt	p.S1492F	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1492	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCTCAATCTCTTGTGTCCCA	0.522000														106			52		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43846459	43846459	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:43846459C>T	uc010skx.2	-	12	1800	c.1800G>A	c.(1798-1800)atG>atA	p.M600I		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	600	TSP type-1 1.					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)		ATCGAAATTTCATCCTGCGGC	0.388000														17			10		0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34356343	34356343	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34356343C>T	uc001zhk.1	+	2	2095	c.1425C>T	c.(1423-1425)acC>acT	p.T475T	CHRM5_uc001zhl.1_Silent_p.T475T|CHRM5_uc021sir.1_Silent_p.T475T	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	475					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	TCCCAGTCACCCTGTGGCACT	0.498000														72			30		0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38774898	38774898	+	Nonsense_Mutation	SNP	G	A	A	rs145139818	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:38774898G>A	uc003gtj.3	-	3	2952	c.2314C>T	c.(2314-2316)Cga>Tga	p.R772*	TLR10_uc021xnk.1_Nonsense_Mutation_p.R758*|TLR10_uc003gti.3_Nonsense_Mutation_p.R772*|TLR10_uc021xnl.1_Nonsense_Mutation_p.R772*|TLR10_uc003gtk.3_Nonsense_Mutation_p.R772*|TLR10_uc021xnm.1_Nonsense_Mutation_p.R772*	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	772	TIR.				MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATAGCAGCTCGAAGGTTTGCC	0.418000														97			33		0	0	1	0	0
CCDC74B	91409	broad.mit.edu	37	2	130897787	130897787	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:130897787C>T	uc010yzw.1	-	3	1891	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	CCDC74B_uc002tqm.1_Missense_Mutation_p.E281K|CCDC74B_uc002tqn.1_Missense_Mutation_p.E215K			Q96LY2	CC74B_HUMAN	Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA.	281										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TTCCACAGCTCGCGGATGAGC	0.682000														67			19		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45782899	45782899	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:45782899C>T	uc003bgc.3	-	10	1811	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	SMC1B_uc003bgd.3_Missense_Mutation_p.E587K|SMC1B_uc003bge.1_Missense_Mutation_p.E370K	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	587	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCTTTAAGCTCCCTTAGTCTT	0.328000														100			26		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62844957	62844957	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62844957G>A	uc002yii.3	+	9	1952	c.1588G>A	c.(1588-1590)Gga>Aga	p.G530R	MYT1_uc002yih.3_Missense_Mutation_p.G232R|MYT1_uc002yij.3_Missense_Mutation_p.G162R	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	530					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCCGCAGACAGGAGATCCTTC	0.542000														45			27		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158641160	158641160	+	Silent	SNP	G	A	A	rs41273525		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158641160G>A	uc001fst.1	-	11	1771	c.1572C>T	c.(1570-1572)gcC>gcT	p.A524A		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	524					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGGCAGTAAAGGCTTCCTCAA	0.468000														43			9		0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43023314	43023314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43023314C>T	uc002otv.3	-	4	1167	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eii.3_Intron|CEACAM1_uc010eij.3_Silent_p.V344V|CEACAM1_uc002otw.3_Silent_p.V344V|CEACAM1_uc002otx.3_Intron|CEACAM1_uc002oty.3_Intron|CEACAM1_uc002otz.3_Intron|CEACAM1_uc010eik.3_Intron|CEACAM1_uc002oua.3_Silent_p.V344V|CEACAM1_uc002oub.3_Intron	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	344	Ig-like C2-type 3.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	AGGTCAGGTTCACAGAGTCCT	0.502000														98			56		0	0	1	0	0
KCNN1	3780	broad.mit.edu	37	19	18092715	18092715	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18092715C>A	uc002nht.3	+	4	1006	c.696C>A	c.(694-696)atC>atA	p.I232I	KCNN1_uc010xqa.1_Silent_p.I232I	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	232					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						TGCTGTCCATCCCCATGTTCC	0.672000														21			6		0.00198382	0.00198522	1	1	0
TACSTD2	4070	broad.mit.edu	37	1	59042069	59042069	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:59042069C>T	uc001cyz.4	-	0	1098	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_002353	NP_002344	P09758	TACD2_HUMAN	Homo sapiens tumor-associated calcium signal transducer 2 (TACSTD2), mRNA.	254					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					AGCGTGCGCTCCACCTGCAGG	0.642000														21			8		0	0	1	0	0
KRT7	3855	broad.mit.edu	37	12	52636807	52636807	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52636807C>T	uc001saa.1	+	5	997	c.870C>T	c.(868-870)ctC>ctT	p.L290L		NM_005556	NP_005547	P08729	K2C7_HUMAN	Homo sapiens keratin 7 (KRT7), mRNA.	290	Coil 2.|Rod.				DNA replication|cytoskeleton organization|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		TTGAGACCCTCCAGGCCCAGG	0.587000														76			18		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15326031	15326031	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15326031G>A	uc001iob.3	-	1	178	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	57						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCTGGTTGGTGAAGATCTCGA	0.552000														48			22		0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14706282	14706282	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:14706282C>T	uc001rcc.1	-	1	341	c.180G>A	c.(178-180)atG>atA	p.M60I		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	60					lipid catabolic process	extracellular region	hydrolase activity	p.V59V(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						CATTCTTGTCCATTACATTTT	0.448000														98			18		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400463	40400463	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:40400463G>A	uc003oph.1	-	1	855	c.390C>T	c.(388-390)atC>atT	p.I130I		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	130						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGTTGTTCACGATAAGGTGCT	0.592000														44			12		0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202861744	202861744	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:202861744G>A	uc001gyo.1	-	11	1824	c.1624C>T	c.(1624-1626)Cct>Tct	p.P542S	KLHL12_uc001gym.1_3'UTR|KLHL12_uc001gyn.1_3'UTR|KLHL12_uc010pqc.1_Missense_Mutation_p.P580S	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.	542	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCGATGATAGGGTCATAACAT	0.493000														59			13		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657081	81657081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81657081G>A	uc001szo.2	-	30	3802	c.3641C>T	c.(3640-3642)tCc>tTc	p.S1214F	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.S1113F|PPFIA2_uc021rbh.1_Missense_Mutation_p.S1109F|PPFIA2_uc021rbi.1_Missense_Mutation_p.S1208F|PPFIA2_uc021rbj.1_Missense_Mutation_p.S1193F|PPFIA2_uc021rbk.1_Missense_Mutation_p.S1199F|PPFIA2_uc021rbl.1_Missense_Mutation_p.S1214F|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.S750F|PPFIA2_uc021rbf.1_Missense_Mutation_p.S400F	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	1114										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGTTTCTGAGGACCCAGGCAT	0.458000														21			12		0	0	1	0	0
NCAPH	23397	broad.mit.edu	37	2	97033013	97033013	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:97033013C>T	uc002svz.1	+	14	1984	c.1900C>T	c.(1900-1902)Cac>Tac	p.H634Y	NCAPH_uc010yum.1_Missense_Mutation_p.H610Y|NCAPH_uc010yun.1_Missense_Mutation_p.H498Y	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	634					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		p.I633T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AATTGAAATTCACTATGCCAA	0.388000														87			35		0	0	1	0	0
CLEC1A	51267	broad.mit.edu	37	12	10241809	10241809	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10241809G>A	uc001qxb.3	-	1	212	c.128C>T	c.(127-129)cCc>cTc	p.P43L	CLEC1A_uc001qxd.3_Intron|CLEC1A_uc010sgx.2_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	43					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CGTTGAAGAGGGAGCCCTGTG	0.527000														40			8		0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327285	52327285	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52327285C>T	uc002pxt.1	+	1	468	c.284C>T	c.(283-285)tCa>tTa	p.S95L	FPR3_uc021uyq.1_Missense_Mutation_p.S95L	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	95					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CCTTTTGGCTCATTCCTATGT	0.453000														93			38		0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75408259	75408259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:75408259G>A	uc001jut.4	-	3	1303	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F	SYNPO2L_uc001jus.4_Missense_Mutation_p.S160F	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	384						cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CCCTCGCCCAGAGACCTCACT	0.647000														88			19		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49812813	49812813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:49812813C>T	uc001jgu.3	-	0	326	c.29G>A	c.(28-30)aGg>aAg	p.R10K	ARHGAP22_uc001jgt.3_Missense_Mutation_p.R10K|ARHGAP22_uc010qgl.2_Missense_Mutation_p.R10K|ARHGAP22_uc010qgm.2_Intron|ARHGAP22_uc001jgv.3_Intron	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	10					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTACCCCTCCTGGCCTGCCT	0.607000														70			25		0	0	1	0	0
ARID3C	138715	broad.mit.edu	37	9	34627700	34627700	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:34627700G>A	uc011lon.2	-	0	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CTACCTGCTTGAATTGTTCCT	0.622000														64			9		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743056	26743056	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:26743056C>T	uc001mra.2	-	0	519	c.206G>A	c.(205-207)gGg>gAg	p.G69E	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.4_Missense_Mutation_p.G69E	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	69					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.G69G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AGAAGGGGTCCCCAGGACCGT	0.527000														55			20		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541132	55541132	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55541132C>T	uc010ril.2	+	0	219	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGACAGACTTCTGTTTTTCCA	0.388000														110			39		0	0	1	0	0
DHRS4	10901	broad.mit.edu	37	14	24511906	24511906	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24511906C>T	uc010alc.3	+	2	316	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F	DHRS4_uc021rrd.1_Intron|DHRS4_uc021rrf.1_Intron|DHRS4_uc010tnu.2_Intron|DHRS4_uc021rrg.1_Intron|DHRS4_uc021rrh.1_Intron|DHRS4_uc021rri.1_Intron|DHRS4_uc021rrj.1_Intron	NM_001082488	NP_001075957	Q9BTZ2	DHRS4_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 4 like 1 (DHRS4L1), mRNA.	106						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	GGCTATGAAGCTTCATGGAGT	0.448000														203			52		0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487659	131487659	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:131487659C>T	uc002trv.2	+	0	1017	c.935C>T	c.(934-936)cCc>cTc	p.P312L		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	312						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					ATGATGCTTCCCCGTGCCATG	0.592000														54			16		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56392835	56392835	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56392835G>A	uc002qmd.4	+	10	3290	c.2868_splice	c.e10-1	p.G956_splice	NLRP4_uc002qmf.3_Splice_Site_p.G881_splice|NLRP4_uc010etf.3_Splice_Site_p.G731_splice	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	956							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TATTTTACCAGGCTGAGAAAA	0.413000														24			7		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	G	G	rs9424867		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:145302714A>G	uc021oul.1	+	7	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	384								p.L384L(6)|p.L113L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000														71			5		0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469120	72469120	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:72469120C>T	uc010izc.3	+	0	98	c.50C>T	c.(49-51)tCc>tTc	p.S17F		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	17						integral to membrane		p.S17F(2)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		AATGTGTTCTCCGTCACTCCT	0.577000														264			33		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4829654	4829654	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:4829654G>A	uc003bqc.3	+	50	6944	c.6594G>A	c.(6592-6594)atG>atA	p.M2198I	ITPR1_uc021wsi.1_Missense_Mutation_p.M2165I|ITPR1_uc021wsj.1_Missense_Mutation_p.M2150I|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2213					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACCGAACAATGGAACAGATAG	0.383000														20			6		0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92307812	92307812	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:92307812C>T	uc003yez.3	+	3	597	c.358C>T	c.(358-360)Cct>Tct	p.P120S	SLC26A7_uc003yex.3_Missense_Mutation_p.P120S|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.P120S	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	120						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACGGATTGTCCCTCAGAACAT	0.458000														89			31		0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52519592	52519592	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52519592G>A	uc002pyj.3	-	4	1661	c.1259C>T	c.(1258-1260)aCt>aTt	p.T420I	ZNF614_uc002pyi.4_Intron|ZNF614_uc010epj.3_Missense_Mutation_p.T123I	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	Homo sapiens zinc finger protein 614 (ZNF614), mRNA.	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCCTGTATGAGTTCGCTGATG	0.413000														290			29		0	0	1	0	0
SCGB1C1	147199	broad.mit.edu	37	11	193729	193729	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:193729G>A	uc001loa.1	+	1	93	c.73G>A	c.(73-75)Gac>Aac	p.D25N		NM_145651	NP_663626	Q8TD33	SG1C1_HUMAN	Homo sapiens secretoglobin, family 1C, member 1 (SCGB1C1), mRNA.	25						extracellular region	binding			endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CACAGGGGAGGACAACGATGA	0.572000														44			12		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451240	55451240	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55451240G>A	uc002qih.4	-	3	1023	c.947C>T	c.(946-948)cCg>cTg	p.P316L	NLRP7_uc010esk.3_Missense_Mutation_p.P316L|NLRP7_uc002qig.4_Missense_Mutation_p.P316L|NLRP7_uc002qii.4_Missense_Mutation_p.P316L|NLRP7_uc010esl.3_Missense_Mutation_p.P344L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	316	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TACGTAGATCGGCTGCTGCGC	0.607000														37			19		0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33644589	33644589	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:33644589G>A	uc021wvc.1	-	17	1993	c.1782C>T	c.(1780-1782)tcC>tcT	p.S594S	CLASP2_uc021wvb.1_Silent_p.S360S|CLASP2_uc021wvd.1_Silent_p.S593S|CLASP2_uc003cfv.3_Silent_p.S366S|CLASP2_uc011axu.1_Silent_p.S370S|CLASP2_uc003cfw.2_Silent_p.S366S|CLASP2_uc011axt.1_Silent_p.S168S	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	594										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTCCTGGAAGGGAACTGGCTT	0.453000														7			5		0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57512524	57512524	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:57512524G>A	uc003pdx.3	+	14	1436	c.1349G>A	c.(1348-1350)aGc>aAc	p.S450N		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	451					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTTGTGAGAGCCAACGTATT	0.373000														130			18		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181689418	181689418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181689418C>T	uc009wxt.3	+	13	2023	c.1828C>T	c.(1828-1830)Ctc>Ttc	p.L610F	CACNA1E_uc001gow.3_Missense_Mutation_p.L610F|CACNA1E_uc009wxs.3_Missense_Mutation_p.L610F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	610					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.L609V(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						GCTTTTCCTCCTCTTCCTCTT	0.463000														28			13		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106329522	106329522	+	Splice_Site	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106329522A>T	uc021ser.1	-	4391		c.63634_splice	c.e4391+1		DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_5'Flank|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron|IGHG1_uc001yse.3_Intron|IGHE_uc001ysj.3_5'Flank|IGHE_uc001ysk.1_5'Flank|IGHE_uc001ysl.1_5'Flank|IGHE_uc001ysm.2_Intron|IGHE_uc001ysn.1_Intron|abParts_uc021set.1_5'Flank					Parts of antibodies, mostly variable regions.																		CCACCCAGAGACCTTCTGTCT	0.567000														42			30		0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95274346	95274346	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:95274346C>T	uc011lty.2	-	4	1304	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.D351N|ECM2_uc004asg.3_Missense_Mutation_p.D351N	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	373					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TTACTCAGATCAAGCCTTTCC	0.393000														59			25		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9307218	9307218	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:9307218G>A	uc001qvl.3	-	28	3797	c.3768C>T	c.(3766-3768)tcC>tcT	p.S1256S	PZP_uc009zgl.3_Silent_p.S1042S	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGACCTGGGTGGAGGAGAAAC	0.512000														19			9		0	0	1	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106053911	106053911	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106053911G>A	uc001yrt.3	-	2	657	c.626C>T	c.(625-627)aCc>aTc	p.T209I	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		GATGTTGGCGGTTAGTGGGGT	0.612000														45			20		0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104312939	104312939	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104312939C>T	uc004bbn.3	+	9	1234	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	Homo sapiens ring finger protein 20 (RNF20), mRNA.	382					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TCCAGAATATCGCTGCATGCA	0.507000														124			83		0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102490132	102490132	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:102490132C>T	uc002tbc.3	+	23	3162	c.2784C>T	c.(2782-2784)ctC>ctT	p.L928L	MAP4K4_uc002tbf.3_Silent_p.L881L|MAP4K4_uc002tbd.3_Silent_p.L820L|MAP4K4_uc010yvy.2_Silent_p.L843L|MAP4K4_uc002tbh.3_Silent_p.L765L|MAP4K4_uc002tbg.3_Silent_p.L847L|MAP4K4_uc002tbi.3_Silent_p.L650L|MAP4K4_uc010yvz.2_Silent_p.L887L|MAP4K4_uc002tbk.3_Silent_p.L302L|MAP4K4_uc021vlq.1_Silent_p.L33L|MAP4K4_uc002tbl.3_Silent_p.L33L	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	847	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTAGCACACTCCAGAAACACA	0.363000														24			6		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147120535	147120535	+	Missense_Mutation	SNP	C	T	T	rs148365070	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:147120535C>T	uc011bno.2	-	1	386	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	ZIC4_uc021xff.1_Missense_Mutation_p.R55Q|ZIC4_uc003ewd.2_Missense_Mutation_p.R17Q|ZIC4_uc021xfg.1_Missense_Mutation_p.R17Q	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	17						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAGAGTGTTTCGGTAAAGCCG	0.353000														147			43		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690158	33690158	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:33690158G>A	uc002hjg.4	-	1	916	c.669C>T	c.(667-669)ttC>ttT	p.F223F	SLFN11_uc010ctr.3_Silent_p.F223F|SLFN11_uc010ctp.3_Silent_p.F223F|SLFN11_uc010ctq.3_Silent_p.F223F|SLFN11_uc002hjh.4_Silent_p.F223F	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	223						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATATTCTTGGAAGTGTTTTG	0.378000														128			24		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080255	23080255	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23080255G>A	uc002dll.3	-	15	3171	c.3171C>T	c.(3169-3171)tcC>tcT	p.S1057S	USP31_uc002dlk.3_Silent_p.S329S|USP31_uc010vca.2_Silent_p.S360S|USP31_uc010bxm.3_Silent_p.S345S	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	1057	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GAGAAGAAGGGGATGTACTTG	0.547000														78			22		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115428861	115428861	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:115428861C>T	uc001efr.3	+	13	1330	c.1121C>T	c.(1120-1122)tCg>tTg	p.S374L	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.S374L|SYCP1_uc009wgw.3_Missense_Mutation_p.S374L	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	374					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)		GCTGCTCATTCGTTTGTGGTT	0.308000														104			48		0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	480750	480750	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:480750G>A	uc002kkm.3	-	1	230	c.15C>T	c.(13-15)ttC>ttT	p.F5F		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	5					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CCTCCTCTGCGAAGTCGTCTG	0.552000														81			23		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2017126	2017126	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2017126G>A	uc021qsx.1	-	4	795	c.564C>T	c.(562-564)ctC>ctT	p.L188L	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.L188L	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	188						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGGACTCCAGGAGGAACTCGG	0.597000														36			8		0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39804951	39804951	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39804951C>T	uc002okw.2	-	0	1026	c.1026G>A	c.(1024-1026)ggG>ggA	p.G342G		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	342	Ig-like.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGCTGGAGTTCCCCAGCAGCC	0.687000														8			7		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35406890	35406890	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:35406890G>A	uc003xjr.2	+	1	512	c.184G>A	c.(184-186)Gat>Aat	p.D62N	UNC5D_uc003xjs.2_Missense_Mutation_p.D57N	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	62	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGAGCCAGATGATGCTTATAT	0.483000														45			13		0	0	1	0	0
CD276	80381	broad.mit.edu	37	15	73996202	73996202	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:73996202C>T	uc002avv.1	+	4	1170	c.936C>T	c.(934-936)gcC>gcT	p.A312A	CD276_uc010bjd.1_Silent_p.A166A|CD276_uc002avu.1_Silent_p.A312A|CD276_uc002avw.1_Intron|CD276_uc010ulb.1_Silent_p.A258A	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	312	Ig-like V-type 2.				T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						ACCGCACGGCCCTCTTCCCGG	0.642000														55			17		0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87329812	87329812	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87329812C>T	uc003ujb.3	+	3	776	c.365C>T	c.(364-366)tCa>tTa	p.S122L	ABCB1_uc003uiz.2_Intron|ABCB1_uc003uja.2_Intron|ABCB1_uc010lei.2_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.S105L|RUNDC3B_uc011khe.2_Missense_Mutation_p.S105L|RUNDC3B_uc003ujc.3_Missense_Mutation_p.S105L|RUNDC3B_uc003ujd.3_Missense_Mutation_p.S27L	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	122	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CGGAAAGTTTCACAGAATTGT	0.383000														55			26		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Missense_Mutation	SNP	G	A	A	rs137852790		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7578475G>A	uc002gim.2	-	4	649	c.455C>T	c.(454-456)cCg>cTg	p.P152L	TP53_uc002gig.1_Missense_Mutation_p.P152L|TP53_uc002gih.3_Missense_Mutation_p.P152L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P20L|TP53_uc010cnf.1_Missense_Mutation_p.P20L|TP53_uc002gii.1_Missense_Mutation_p.P20L|TP53_uc010cni.1_Missense_Mutation_p.P152L|TP53_uc010cnh.1_Missense_Mutation_p.P152L|TP53_uc002gij.2_Missense_Mutation_p.P152L|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P59L|TP53_uc002gio.2_Missense_Mutation_p.P20L|TP53_uc010vug.2_Missense_Mutation_p.P113L	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(129)|p.P151S(66)|p.P151H(27)|p.P152fs*18(23)|p.P152S(22)|p.P152R(14)|p.P151T(14)|p.P151P(12)|p.P152fs*14(10)|p.P151A(9)|p.P152Q(8)|p.0?(8)|p.P152T(7)|p.P151L(7)|p.P151fs*30(7)|p.P151R(7)|p.T150fs*16(6)|p.P152fs*29(5)|p.P152P(5)|p.?(5)|p.P153fs*28(5)|p.P152fs*28(4)|p.P59L(2)|p.P151_V173del23(2)|p.P152_P153del(2)|p.P20L(2)|p.D148_T155delDSTPPPGT(2)|p.T150_P153delTPPP(2)|p.P152fs*27(2)|p.Q144_G154del11(2)|p.P152A(2)|p.P153fs*16(1)|p.P59R(1)|p.P20R(1)|p.T57fs*16(1)|p.P151del(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		GGTGCCGGGCGGGGGTGTGGA	0.612000		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)				41			28		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332205	70332205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70332205G>A	uc001oqc.3	-	20	4107	c.3995C>T	c.(3994-3996)tCc>tTc	p.S1332F	SHANK2_uc010rqn.2_Missense_Mutation_p.S808F|SHANK2_uc001opz.3_Missense_Mutation_p.S803F|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1019					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CAAGTCCACGGATGCCAGAGG	0.567000														70			29		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88241775	88241775	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:88241775G>A	uc001pcq.3	-	8	3824	c.3624C>T	c.(3622-3624)agC>agT	p.S1208S	GRM5_uc009yvm.3_Silent_p.S1176S	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	1208					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ACGACGAGGAGCTCTGAGTGT	0.587000														42			16		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51936919	51936919	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:51936919C>T	uc003pah.1	-	7	872	c.596G>A	c.(595-597)gGa>gAa	p.G199E	PKHD1_uc003pai.3_Missense_Mutation_p.G199E	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	199	IPT/TIG 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.G199E(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCACCAGCTTCCCATCTGCCT	0.413000														66			10		0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85974125	85974125	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:85974125G>A	uc001kcv.3	+	16	2433	c.2328G>A	c.(2326-2328)gaG>gaA	p.E776E	CDHR1_uc001kcw.3_Intron|CDHR1_uc009xst.3_Silent_p.E480E|CDHR1_uc001kcx.3_Silent_p.E90E	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	776	Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTCCCAATGAGAACTGTAACA	0.612000														103			46		0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306249	2306249	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:2306249G>A	uc003gex.2	-	7	2138	c.1818C>T	c.(1816-1818)gcC>gcT	p.A606A	ZFYVE28_uc011bvk.2_Silent_p.A536A|ZFYVE28_uc011bvl.2_Silent_p.A576A|ZFYVE28_uc003gew.2_Silent_p.A492A	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	606					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTCTCTCAGGGGCCCTGTCGC	0.677000														43			8		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275650	152275650	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152275650G>A	uc001ezu.1	-	2	11748	c.11712C>T	c.(11710-11712)tcC>tcT	p.S3904S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3904	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCGGTGAGAGGATCCGGGGT	0.502000									Ichthyosis					88			30		0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64873464	64873464	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:64873464G>A	uc010wqi.2	+	1	251	c.14G>A	c.(13-15)gGg>gAg	p.G5E	CACNG5_uc010wqj.2_Missense_Mutation_p.G5E	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	5					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			AGTGCCTGCGGGAGGAAGGCC	0.632000														67			17		0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37891882	37891882	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37891882C>T	uc003asx.1	-	13	2205	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_Missense_Mutation_p.E48K|CARD10_uc003asw.1_Missense_Mutation_p.E444K|CARD10_uc003asy.1_Missense_Mutation_p.E730K	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	730					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CGAAGGATCTCTTGGGCTTTC	0.622000														53			18		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620855	7620855	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:7620855C>T	uc003bqm.2	+	7	2536	c.2262C>T	c.(2260-2262)ctC>ctT	p.L754L	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.L754L|GRM7_uc003bql.2_Silent_p.L754L|GRM7_uc003bqn.1_Silent_p.L337L|GRM7_uc010hch.1_Silent_p.L265L	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	754					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TTACAGATCTCCAAATCATTT	0.443000														79			39		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207640026	207640026	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207640026G>A	uc001hfw.3	+	1	333	c.214G>A	c.(214-216)Gat>Aat	p.D72N	CR2_uc001hfv.3_Missense_Mutation_p.D72N|CR2_uc009xch.3_Missense_Mutation_p.D72N	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	72	Sushi 1.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGACAAAGTGGATGGAACCTG	0.413000														109			48		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87362036	87362036	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:87362036G>A	uc001kdl.1	-	15	3125	c.3024C>T	c.(3022-3024)tcC>tcT	p.S1008S	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Silent_p.S579S|LOC100507470_uc001kdk.2_Intron	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	1008						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCAGTCAGATGGAGGTCCCGT	0.617000										Multiple Myeloma(13;0.14)				15			8		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28608057	28608057	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:28608057C>T	uc001urw.3	-	14	1991	c.1909G>A	c.(1909-1911)Gtc>Atc	p.V637I	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.V637I	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	637	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGATTGAGACTCCTGTTTTG	0.453000			"""Mis, O"""		"""AML, ALL"""									260			22		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249284	20249284	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20249284C>T	uc010tku.2	+	0	803	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GACTCATTTTCCCTAGATAAA	0.418000														113			38		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61822884	61822884	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61822884G>A	uc001jky.3	-	39	12918	c.12580C>T	c.(12580-12582)Cat>Tat	p.H4194Y	ANK3_uc001jkw.3_Missense_Mutation_p.H715Y|ANK3_uc009xpa.3_Missense_Mutation_p.H715Y|ANK3_uc001jkx.3_Missense_Mutation_p.H759Y|ANK3_uc010qih.2_Missense_Mutation_p.H1582Y|ANK3_uc001jkz.4_Missense_Mutation_p.H1575Y|ANK3_uc001jkv.3_Missense_Mutation_p.H114Y	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4194					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						ACAGGGTCATGGAAAACATTG	0.328000														27			8		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130763803	130763803	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:130763803C>T	uc003ysr.3	-	9	1810	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	310						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CAGAAGGGTTCCTCTATTCTT	0.478000														80			32		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872446	51872446	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:51872446C>T	uc002xwo.3	+	1	3336	c.2449C>T	c.(2449-2451)Ccc>Tcc	p.P817S	TSHZ2_uc021wex.1_Missense_Mutation_p.P814S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	817					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTCCAGGGTCCCCCCCATGAA	0.552000														82			34		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142151420	142151420	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:142151420C>T	uc003yvy.3	+	3	658	c.380C>T	c.(379-381)tCc>tTc	p.S127F	DENND3_uc003yvw.1_Missense_Mutation_p.S140F|DENND3_uc003yvx.3_Missense_Mutation_p.P206S|DENND3_uc010mep.3_Missense_Mutation_p.S140F	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	127	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GACTGCCTTTCCTGGTGAGCT	0.647000														109			7		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186008003	186008003	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:186008003C>T	uc001grq.1	+	37	6123	c.5894C>T	c.(5893-5895)aCc>aTc	p.T1965I		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1965	Ig-like C2-type 17.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCAGGTTCCACCAGCATGACT	0.368000														123			50		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885727	29885727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:29885727G>A	uc003afo.3	+	3	2169	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	706	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCAGTGAAGGAAGAAGCAAA	0.557000														145			53		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88690576	88690576	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:88690576G>A	uc002bme.2	-	5	760	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	NTRK3_uc002bmh.2_Missense_Mutation_p.L152F|NTRK3_uc002bmf.2_Missense_Mutation_p.L152F|NTRK3_uc021sua.1_Missense_Mutation_p.L152F|NTRK3_uc010upl.1_Missense_Mutation_p.L54F|NTRK3_uc010bnh.1_Missense_Mutation_p.L152F|NTRK3_uc002bmg.3_Missense_Mutation_p.L152F	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	152					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L152I(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AATTCCCGAAGACTCAGCGTC	0.478000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				61			19		0	0	1	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152235965	152235965	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152235965C>T	uc002txk.3	+	5	827	c.752C>T	c.(751-753)tCc>tTc	p.S251F	FW340097_uc021vqy.1_5'Flank	NM_007115	NP_009046	P98066	TSG6_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 6 (TNFAIP6), mRNA.	251					cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		GATCCTGTATCCAAATCCAGT	0.353000														123			36		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620138	7620138	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:7620138C>T	uc003bqm.2	+	7	1819	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.V515V|GRM7_uc003bql.2_Silent_p.V515V|GRM7_uc003bqn.1_Silent_p.V98V|GRM7_uc010hch.1_Silent_p.V26V	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	515					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GTAAAGGAGTCCGAGAGATAC	0.463000														55			18		0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26517322	26517322	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26517322G>A	uc010oez.2	+	0	204	c.204G>A	c.(202-204)acG>acA	p.T68T	CATSPER4_uc010oey.1_5'UTR|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	68					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAAATCACGAACAAAGCGG	0.602000														6			9		0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17675575	17675575	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:17675575G>A	uc003ncd.1	-	3	808	c.608C>T	c.(607-609)tCa>tTa	p.S203L	NUP153_uc011dje.1_Missense_Mutation_p.S203L|NUP153_uc010jpl.1_Missense_Mutation_p.S203L	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	203					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AGGTGGCAATGAAGTGTTCTT	0.368000														56			30		0	0	1	0	0
ATF2	1386	broad.mit.edu	37	2	175939542	175939542	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:175939542G>A	uc002ujl.3	-	13	1575	c.1313C>T	c.(1312-1314)tCa>tTa	p.S438L	ATF2_uc002ujv.3_Missense_Mutation_p.S185L|ATF2_uc002ujm.3_Missense_Mutation_p.S380L|ATF2_uc002uju.3_Non-coding_Transcript|ATF2_uc002ujn.3_Non-coding_Transcript|ATF2_uc002ujo.3_Missense_Mutation_p.S77L|ATF2_uc002ujp.3_Non-coding_Transcript|ATF2_uc002ujq.3_Missense_Mutation_p.S438L|ATF2_uc010fqu.3_Missense_Mutation_p.S420L|ATF2_uc002ujr.3_Non-coding_Transcript|ATF2_uc002ujs.3_Missense_Mutation_p.S380L|ATF2_uc002ujt.3_Non-coding_Transcript|ATF2_uc010fqv.3_Missense_Mutation_p.S389L|ATF2_uc002ujw.1_3'UTR|ATF2_uc002ujx.1_Non-coding_Transcript|AF283776_uc002ujk.3_5'Flank	NM_001880	NP_001871	P15336	ATF2_HUMAN	Homo sapiens activating transcription factor 2 (ATF2), transcript variant 1, mRNA.	438					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding 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	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			AATGTCTTCTGAACTATCATC	0.418000														52			17		0	0	1	0	0
ALOX5AP	241	broad.mit.edu	37	13	31309784	31309784	+	Silent	SNP	C	T	T	rs11542984	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:31309784C>T	uc010tdr.2	+	1	461	c.213C>T	c.(211-213)atC>atT	p.I71I	ALOX5AP_uc001utf.2_Silent_p.I14I	NM_001204406	NP_001191335	P20292	AL5AP_HUMAN	Homo sapiens arachidonate 5-lipoxygenase-activating protein (ALOX5AP), transcript variant 2, mRNA.	14					cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		TGTTGGCCATCGTCACCCTCA	0.517000														38			15		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921933	24921933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24921933C>T	uc001ywo.3	+	0	1393	c.919C>T	c.(919-921)Cct>Tct	p.P307S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	307	Pro-rich.				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)		TGATGAGAAGCCTTTCTGTAT	0.587000														78			25		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401587	77401587	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:77401587G>A	uc002ffc.4	-	3	948	c.529C>T	c.(529-531)Ctc>Ttc	p.L177F	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.	177					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						GGCGAGATGAGGAATTCATTT	0.468000														80			22		0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22312906	22312906	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22312906G>A	uc002zvs.3	-	16	2500	c.2065C>T	c.(2065-2067)Ccc>Tcc	p.P689S	TOP3B_uc010gtm.2_Missense_Mutation_p.P234S|TOP3B_uc002zvt.4_Missense_Mutation_p.P689S|TOP3B_uc010gtl.3_Missense_Mutation_p.P689S	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	689					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TAGCAGTAGGGGCACAGCGGG	0.587000														98			25		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11364849	11364849	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:11364849G>A	uc003jfa.1	-	7	1476	c.1331C>T	c.(1330-1332)cCt>cTt	p.P444L	CTNND2_uc010itt.2_Missense_Mutation_p.P353L|CTNND2_uc011cmy.1_Missense_Mutation_p.P107L|CTNND2_uc011cmz.1_Missense_Mutation_p.P11L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.P11L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	444					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.D443fs*113(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGCGGCAGAGGGTCCCCCTG	0.642000														26			14		0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68396094	68396094	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:68396094C>T	uc003xxq.4	-	8	1004	c.748_splice	c.e8-1	p.D250_splice	CPA6_uc003xxr.4_Splice_Site_p.D102_splice|CPA6_uc003xxs.2_Intron	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	250					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AAAATCGATCCTAGACATAAT	0.398000														154			48		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296878	29296878	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29296878C>T	uc002rmt.2	-	0	250	c.250G>A	c.(250-252)Ggc>Agc	p.G84S		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	84					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTCCTTTTGCCTGAAGCAGGA	0.507000														165			17		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31391694	31391694	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31391694C>T	uc002ebt.3	+	26	3235	c.3168C>T	c.(3166-3168)gtC>gtT	p.V1056V	ITGAX_uc002ebu.1_Silent_p.V1056V	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	1056					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TTGGCTGGGTCCGCCAGGTGT	0.647000														19			6		0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20387405	20387405	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20387405G>A	uc002dhc.1	-	3	751	c.528C>T	c.(526-528)atC>atT	p.I176I		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	176					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGAAGCCAACGATGACCAAGG	0.522000														45			15		0	0	1	0	0
PRIMA1	145270	broad.mit.edu	37	14	94187839	94187839	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94187839C>T	uc001ybw.1	-	4	455	c.413G>A	c.(412-414)aGt>aAt	p.S138N	PRIMA1_uc001ybx.1_Non-coding_Transcript	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN	Homo sapiens proline rich membrane anchor 1 (PRIMA1), mRNA.	138					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		CTGCGAAGCACTCATGGGATA	0.582000														54			11		0	0	1	0	0
CD14	929	broad.mit.edu	37	5	140011718	140011718	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140011718G>A	uc003lgi.2	-	1	1230	c.851C>T	c.(850-852)tCg>tTg	p.S284L	CD14_uc003lgj.2_Missense_Mutation_p.S284L|CD14_uc021yej.1_Missense_Mutation_p.S284L|CD14_uc021yek.1_Missense_Mutation_p.S284L|CD14_uc021yel.1_Missense_Mutation_p.S153L	NM_000591	NP_001167576	P08571	CD14_HUMAN	Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.	284					Toll signaling pathway|apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGCGAACGACAGATTGAG	0.617000														65			20		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96777479	96777479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:96777479G>A	uc001yfi.3	-	27	4501	c.4136C>T	c.(4135-4137)cCt>cTt	p.P1379L		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1379										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAAGGCTCCAGGCTTCATATC	0.448000														121			38		0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74134004	74134004	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74134004G>A	uc002jqx.3	-	2	1051	c.696C>T	c.(694-696)ccC>ccT	p.P232P	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	232					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GGACAGCGCTGGGCTCCTGCG	0.726000														7			3		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204944445	204944446	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204944445_204944446GG>AA	uc010prc.2	+	13	1835_1836	c.306_307GG>AA	c.(304-309)aggggc>agAAgc	p.G103S	NFASC_uc001hbh.3_Missense_Mutation_p.G536S|NFASC_uc010pqz.2_Missense_Mutation_p.G530S|NFASC_uc001hbj.3_Missense_Mutation_p.G536S|NFASC_uc010pra.2_Missense_Mutation_p.G547S|NFASC_uc001hbi.3_Missense_Mutation_p.G547S|NFASC_uc010prb.2_Missense_Mutation_p.G547S|NFASC_uc001hbk.1_Missense_Mutation_p.G357S			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	536	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGGCCAGAAGGGGCACCACGGT	0.624000											OREG0014142	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		104			47		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941923	52941923	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52941923C>T	uc002pzk.3	+	3	1316	c.1249C>T	c.(1249-1251)Cat>Tat	p.H417Y	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.H404Y	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TAGGAAAATTCATACTGGGGG	0.428000														6			3		0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23818459	23818459	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:23818459G>A	uc001rfw.3	-	6	952	c.850C>T	c.(850-852)Cct>Tct	p.P284S	SOX5_uc001rfx.3_Missense_Mutation_p.P271S|SOX5_uc001rfy.3_Missense_Mutation_p.P271S|SOX5_uc010siv.2_Missense_Mutation_p.P271S|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.P236S	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	284					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TGATCAGGAGGGAATACGGGA	0.493000														130			18		0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461685	50461685	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50461685G>A	uc010ybh.2	-	7	1597	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S	SIGLEC11_uc010ybi.2_Intron	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	502					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TGACCTCGAAGGAGCCCTGAC	0.697000														18			4		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41181551	41181551	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41181551G>A	uc003jmk.2	-	6	1047	c.837C>T	c.(835-837)ttC>ttT	p.F279F	C6_uc003jml.1_Silent_p.F279F	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	279	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				TTGGTACACTGAAAGAGCTCC	0.368000														78			38		0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27516588	27516588	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:27516588G>A	uc003xga.1	+	4	1042	c.901G>A	c.(901-903)Gta>Ata	p.V301I	SCARA3_uc003xgb.1_Missense_Mutation_p.V301I	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	301					UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GCACGACCTGGTACTCCAGGT	0.562000														42			20		0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876271	74876271	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:74876271G>A	uc001xpx.2	-	1	425	c.177C>T	c.(175-177)tcC>tcT	p.S59S		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA.	59					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CCAGCTGCAGGGACCCTGGGT	0.672000														28			8		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841197	13841197	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13841197C>T	uc003jfd.2	-	33	5569	c.5527G>A	c.(5527-5529)Gaa>Aaa	p.E1843K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1843	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)					AGGGCTTCTTCTGAATCCCGT	0.348000									Kartagener syndrome					57			31		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24411015	24411015	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24411015C>T	uc001bin.4	-	15	2076	c.1913G>A	c.(1912-1914)cGg>cAg	p.R638Q	MYOM3_uc001bim.4_Missense_Mutation_p.R295Q|MYOM3_uc001bio.3_Missense_Mutation_p.R638Q|MYOM3_uc001bip.1_Missense_Mutation_p.R295Q	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	638	Fibronectin type-III 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CCCCACCTTCCGGGAGTAGAT	0.512000														174			20		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	31086160	31086160	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:31086160C>T	uc009yjk.1	-	7	860	c.791G>A	c.(790-792)aGt>aAt	p.S264N	DCDC5_uc009yjl.1_Missense_Mutation_p.S192N|DCDC5_uc001msu.2_Missense_Mutation_p.S435N	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						GTTGCTGGCACTTTCTTGCAG	0.413000														36			33		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46825075	46825075	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46825075C>T	uc002peh.3	+	9	1218	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	HIF3A_uc002peg.4_Missense_Mutation_p.S396F|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.S340F|HIF3A_uc002pej.2_Missense_Mutation_p.S327F|HIF3A_uc010xxy.2_Missense_Mutation_p.S327F|HIF3A_uc002pel.3_Missense_Mutation_p.S394F|HIF3A_uc010xxz.2_Missense_Mutation_p.S345F	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CACCCGCCTTCCCTGAGCGAG	0.687000														101			21		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131519752	131519752	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:131519752C>T	uc021voy.1	+	0	107	c.107C>T	c.(106-108)cCc>cTc	p.P36L	FAM123C_uc002trw.2_Missense_Mutation_p.P36L|FAM123C_uc010fmv.2_Missense_Mutation_p.P36L|FAM123C_uc010fms.1_Missense_Mutation_p.P36L|FAM123C_uc010fmt.1_Missense_Mutation_p.P36L|FAM123C_uc010fmu.1_Missense_Mutation_p.P36L	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	36								p.G35G(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGGACAGGCCCCTGGTCAGTC	0.622000														10			3		0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44684449	44684449	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:44684449C>T	uc003cnm.3	+	5	2033	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	609					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGTCAAACTTCATTGACCATA	0.408000														53			30		0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100467173	100467173	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:100467173C>T	uc003duf.3	+	7	1186	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	TFG_uc003due.3_Missense_Mutation_p.S334F|TFG_uc003dug.3_Missense_Mutation_p.S330F|TFG_uc003dui.3_Missense_Mutation_p.S334F	NM_001007565	NP_006061	Q92734	TFG_HUMAN	Homo sapiens TRK-fused gene (TFG), transcript variant 2, mRNA.	334					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						GCCCAAACTTCTCAGCCTACT	0.522000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""									109			34		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460392	107460392	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:107460392G>A	uc002tdq.3	-	1	161	c.42C>T	c.(40-42)ttC>ttT	p.F14F	ST6GAL2_uc002tdr.3_Silent_p.F14F|ST6GAL2_uc002tds.3_Silent_p.F14F	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	14					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGAATATTCCGAAAAGCATTC	0.512000														55			23		0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98744436	98744436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98744436C>T	uc001kmv.3	+	0	3396	c.3289C>T	c.(3289-3291)Cct>Tct	p.P1097S		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	1097										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGGCAGCAGCCCTCCAGATAG	0.512000														58			9		0	0	1	0	0
FAM133A	286499	broad.mit.edu	37	X	92964424	92964424	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:92964424G>A	uc022bzw.1	+	2	443	c.6G>A	c.(4-6)ggG>ggA	p.G2G	FAM133A_uc022bzu.1_Silent_p.G2G|FAM133A_uc004efr.2_Silent_p.G2G|FAM133A_uc022bzv.1_Silent_p.G2G|FAM133A_uc022bzx.1_Silent_p.G2G	NM_001171111	NP_775969	Q8N9E0	F133A_HUMAN	Homo sapiens family with sequence similarity 133, member A (FAM133A), transcript variant 4, mRNA.	2										breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						GCACCATGGGGAAGCGGGATA	0.443000														14			11		0	0	1	0	0
FAM110B	90362	broad.mit.edu	37	8	59059522	59059522	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:59059522G>A	uc022auu.1	+	0	733	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	FAM110B_uc003xtj.1_Missense_Mutation_p.E245K	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	245						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CGACCCTGTGGAACCAGCTTG	0.607000														108			32		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42059249	42059249	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42059249C>T	uc010ucy.2	+	23	9150	c.8969C>T	c.(8968-8970)gCc>gTc	p.A2990V	MGA_uc010ucz.2_Missense_Mutation_p.A2781V	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2951						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CCAAAGTTGGCCCCTCTAGGT	0.512000														50			20		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219896315	219896315	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219896315G>A	uc002vjl.1	-	6	795	c.711C>T	c.(709-711)gcC>gcT	p.A237A	CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Silent_p.A226A|CCDC108_uc010zkq.1_Silent_p.A172A	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	237						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGCAGGGTGGCCCGTAGGC	0.607000														121			33		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271762	22271762	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22271762G>A	uc010ecx.3	+	3	1379	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	ZNF257_uc010ecy.3_Missense_Mutation_p.E372K	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CAAATGTGATGAATATTGCAA	0.393000														25			16		0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20073517	20073517	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:20073517C>T	uc002zri.3	+	1	460	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	DGCR8_uc010grz.3_Missense_Mutation_p.P11S|DGCR8_uc021wlp.1_5'Flank|DGCR8_uc002zrj.3_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	11	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	p.P11L(1)		NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CTCTCCGCTCCCGTGTGGGCC	0.557000														112			60		0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032413	55032413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55032413G>A	uc010rid.2	+	1	168	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	12						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTTCCAGAGGGAACTCACCTG	0.483000														67			89		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35806986	35806986	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35806986G>A	uc003jjo.3	+	34	5299	c.5188G>A	c.(5188-5190)Ggg>Agg	p.G1730R	SPEF2_uc003jjp.1_Missense_Mutation_p.G1216R|SPEF2_uc003jjr.3_Missense_Mutation_p.G785R	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1730					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTGTTCAAAGGGGGAAGTGA	0.393000														58			26		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42915959	42915959	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42915959C>T	uc003cmh.3	-	0	1675	c.1350G>A	c.(1348-1350)gtG>gtA	p.V450V	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	450					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)		TAAAGAGCTTCACCTCACTGA	0.537000														48			25		0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52563345	52563345	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52563345G>A	uc003den.3	-	1	278	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	NT5DC2_uc003dem.3_5'Flank|NT5DC2_uc010hmi.3_Silent_p.L80L|NT5DC2_uc010hmj.3_5'UTR|NT5DC2_uc003deo.3_Silent_p.L43L	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN	Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.	43							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TCGGGGGGCAGGAGGTCTAGA	0.587000														37			7		0	0	1	0	0
PAK4	10298	broad.mit.edu	37	19	39669068	39669068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39669068C>T	uc002okj.1	+	10	2086	c.1625C>T	c.(1624-1626)tCg>tTg	p.S542L	PAK4_uc002okl.1_Missense_Mutation_p.S542L|PAK4_uc002okn.1_Missense_Mutation_p.S542L|PAK4_uc002okm.1_Missense_Mutation_p.S389L|PAK4_uc002oko.1_Missense_Mutation_p.S389L|PAK4_uc002okp.1_Missense_Mutation_p.S452L	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	542	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	p.S542S(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CGACAGGTGTCGCCATCCCTG	0.672000														2			4		0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61187102	61187102	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:61187102G>A	uc001xfc.3	-	1	985	c.925C>T	c.(925-927)Cct>Tct	p.P309S	SIX4_uc010app.1_Missense_Mutation_p.P301S	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	309						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		AGTGGGTGAGGAGATAAATCC	0.458000														92			42		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34889177	34889177	+	Splice_Site	SNP	G	A	A	rs149024595		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:34889177G>A	uc003teh.1	+	10	1254	c.1126_splice	c.e10-1	p.G376_splice	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Splice_Site_p.R342_splice|NPSR1_uc010kwt.1_Splice_Site_p.R189_splice|NPSR1_uc010kwu.1_Splice_Site_p.R132_splice|NPSR1_uc010kwv.1_Splice_Site_p.R276_splice|NPSR1_uc003tei.1_Intron|NPSR1_uc010kww.1_Intron|NPSR1_uc011kar.1_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	0						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.R342R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTTTCTCCAGGGAGCAAAGAT	0.408000														86			27		0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13503904	13503904	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:13503904C>T	uc002gob.1	-	0	1341	c.543G>A	c.(541-543)gtG>gtA	p.V181V		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	181						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCTCGGCGCCCACGGCGCGCA	0.721000														7			3		0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147828	100147828	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:100147828C>T	uc003knk.3	-	4	1131	c.803G>A	c.(802-804)tGg>tAg	p.W268*		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	268					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GTTGGTCAGCCAGTAACTGGA	0.363000														64			19		0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2172905	2172905	+	Missense_Mutation	SNP	G	A	A	rs140423155		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:2172905G>A	uc003ger.2	-	9	1390	c.1378C>T	c.(1378-1380)Cgt>Tgt	p.R460C	POLN_uc010ich.1_Missense_Mutation_p.R51C|POLN_uc011bvi.1_Missense_Mutation_p.R460C	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	460					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TCCTTGAGACGAGCCTGAAAA	0.363000								DNA polymerases (catalytic subunits)						62			29		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25284986	25284986	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25284986C>T	uc010aaa.3	+	20	3305	c.2972C>T	c.(2971-2973)tCc>tTc	p.S991F	ATP12A_uc001upp.3_Missense_Mutation_p.S985F	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	985					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CTGATCCTCTCCTATGGCCTC	0.498000														41			26		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27167606	27167606	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27167606G>A	uc002rhu.4	+	11	1681	c.1523G>A	c.(1522-1524)gGa>gAa	p.G508E	DPYSL5_uc002rhv.4_Missense_Mutation_p.G508E|DPYSL5_uc021vev.1_Missense_Mutation_p.G508E	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	508					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGAGATGGGAACCCCACTC	0.582000														95			31		0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1115683	1115683	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1115683C>T	uc001acy.2	+	5	620	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	AK128833_uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Missense_Mutation_p.P157S|TTLL10_uc001acz.2_Missense_Mutation_p.P84S	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	157	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCGGCCGGGGCCCTTCTTCTA	0.697000														12			4		0	0	1	0	0
DOK2	9046	broad.mit.edu	37	8	21766932	21766932	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:21766932C>T	uc003wzx.1	-	4	1222	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	DOK2_uc003wzy.1_Missense_Mutation_p.D377N|DOK2_uc003wzz.1_Missense_Mutation_p.D223N|DOK2_uc010lth.1_Missense_Mutation_p.D223N	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	377					blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CCAGCAGGGTCCCTGTCAGCT	0.607000														63			25		0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183907661	183907661	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183907661C>T	uc003fmz.2	+	13	1466	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	ABCF3_uc003fna.2_Missense_Mutation_p.R439C|ABCF3_uc003fnb.2_Missense_Mutation_p.R126C	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	445							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGACCGGTTTCGCTACAATGC	0.557000														61			12		0	0	1	0	0
TRA	0	broad.mit.edu	37	14	22192542	22192542	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22192542C>T	uc021rpa.1	+	1	445	c.317C>T	c.(316-318)gCt>gTt	p.A106V	TRA_uc001wbn.2_Non-coding_Transcript|TRA_uc021rpb.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36.																		AGCGACTCCGCTTTGTACTTC	0.478000														27			17		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75818801	75818801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:75818801C>T	uc021zbv.1	-	50	8068	c.8033G>A	c.(8032-8034)gGa>gAa	p.G2678E	COL12A1_uc021zbw.1_Missense_Mutation_p.G1514E|COL12A1_uc003phs.3_Missense_Mutation_p.G2678E|COL12A1_uc003pht.3_Missense_Mutation_p.G1514E	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2678	Nonhelical region (NC3).|TSP N-terminal.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.G2678V(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGTTATATTTCCAGCTTCCTT	0.323000														72			6		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137712030	137712030	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:137712030C>T	uc004cfe.3	+	57	4897	c.4515C>T	c.(4513-4515)ctC>ctT	p.L1505L	BC058547_uc004cff.3_Non-coding_Transcript	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1505	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACCGTGGTCTCCCTGGCCCCC	0.602000														53			20		0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91469768	91469768	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:91469768C>T	uc001kgs.1	+	4	508	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	KIF20B_uc001kgr.1_Missense_Mutation_p.R146C	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	146	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGGACAGAGTCGTCTGATTTT	0.353000														105			58		0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45355503	45355503	+	Splice_Site	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:45355503T>G	uc002xsl.3	+	3	1386	c.1289_splice	c.e3-1	p.V430_splice		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	430						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CCCACCCTAGTGACCTGGCTT	0.577000														131			28		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585815	179585815	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179585815C>T	uc021vsy.1	-	75	19424	c.19199G>A	c.(19198-19200)cGa>cAa	p.R6400Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3061Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7327	Ig-like 45.						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)			GCTGTCATTTCGGAACCATGA	0.393000														92			22		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73484038	73484039	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73484038_73484039CC>TT	uc010wsa.2	+	4	657_658	c.465_466CC>TT	c.(463-468)atccag>atTTag	p.Q156*	KIAA0195_uc002jnz.4_Nonsense_Mutation_p.Q146*|KIAA0195_uc010wsb.2_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	146					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGGGAGATCCAGTGGCCCAG	0.599000														49			14		0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105645016	105645016	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:105645016C>T	uc003vdl.4	+	7	1043	c.935C>T	c.(934-936)tCc>tTc	p.S312F	CDHR3_uc003vdk.3_5'UTR|CDHR3_uc011kls.1_Non-coding_Transcript|CDHR3_uc003vdm.4_Missense_Mutation_p.S299F|CDHR3_uc011klt.2_Missense_Mutation_p.S224F|CDHR3_uc003vdn.3_Missense_Mutation_p.S29F	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	312	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCCACCATTTCCCTGGAAGTT	0.483000														33			11		0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88767368	88767368	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:88767368G>A	uc021xpx.1	+	3	1453	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	MEPE_uc021xpu.1_Missense_Mutation_p.E450K|MEPE_uc021xpv.1_Missense_Mutation_p.E337K|MEPE_uc021xpw.1_Missense_Mutation_p.E337K|MEPE_uc010ikn.3_Missense_Mutation_p.E337K|MEPE_uc003hqy.3_Missense_Mutation_p.E450K|MEPE_uc021xpy.1_Missense_Mutation_p.E337K	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	450					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.R481Q(1)|p.R481L(1)		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)		AATCAAAAACGAAATGGATTC	0.378000														64			13		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170115597	170115597	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170115597C>T	uc002ues.3	-	16	2664	c.2451G>A	c.(2449-2451)acG>acA	p.T817T	LRP2_uc010zdf.1_Silent_p.T680T	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	817					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTGTGCGTCTCGTTTTATCAG	0.393000														138			64		0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239489	21239489	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21239489C>T	uc010mis.3	-	0	490	c.446G>A	c.(445-447)aGa>aAa	p.R149K	IFNA14_uc003zoo.1_Non-coding_Transcript	NM_002172	NP_002163	P01570	IFN14_HUMAN	Homo sapiens interferon, alpha 14 (IFNA14), mRNA.	149					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AAGAGTGATTCTTTGGAAGTA	0.458000														307			136		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37153991	37153991	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:37153991G>A	uc011cpa.1	-	40	8293	c.8062C>T	c.(8062-8064)Cct>Tct	p.P2688S	C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Missense_Mutation_p.P1206S|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P1781S	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2688										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTTGGTGCAGGGCAAGCTGCA	0.468000														79			17		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147985774	147985774	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:147985774G>A	uc004fcp.3	+	8	1862	c.1383G>A	c.(1381-1383)agG>agA	p.R461R	AFF2_uc004fco.3_Silent_p.R422R|AFF2_uc004fcq.3_Silent_p.R451R|AFF2_uc004fcr.3_Silent_p.R422R|AFF2_uc011mxb.2_Silent_p.R426R|AFF2_uc004fcs.3_Silent_p.R428R|AFF2_uc011mxc.2_Silent_p.R102R	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	461					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAACCTAGGAATAATCCTG	0.323000														37			69		0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141292000	141292000	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:141292000C>T	uc010huq.1	+	12	1296	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	RASA2_uc003etz.1_Silent_p.S432S|RASA2_uc003eua.1_Silent_p.S432S|RASA2_uc011bnc.1_Silent_p.S24S	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	432	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TATGTGACTCCTCAAAATCCT	0.229000														61			6		0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679494	160679494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:160679494C>T	uc003qtf.3	-	0	470	c.296G>A	c.(295-297)aGc>aAc	p.S99N	SLC22A2_uc003qth.2_Missense_Mutation_p.S99N	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	99					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GTCGAAGGTGCTCTGGTTCCA	0.677000														39			32		0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54656240	54656240	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54656240C>T	uc002qdj.2	+	14	2105	c.1781C>T	c.(1780-1782)cCg>cTg	p.P594L	CNOT3_uc010yel.2_Missense_Mutation_p.P594L|CNOT3_uc002qdi.3_Missense_Mutation_p.P507L|CNOT3_uc002qdk.2_Missense_Mutation_p.P594L|CNOT3_uc010ere.2_Non-coding_Transcript	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	594	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTGAACATACCGCTGTCGCTG	0.652000														94			16		0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104125158	104125158	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104125158T>A	uc010mtd.3	-	3	918	c.809A>T	c.(808-810)tAt>tTt	p.Y270F	BAAT_uc004bbd.4_Missense_Mutation_p.Y270F	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	270					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CTGACCATGATATACCTGTGG	0.438000														59			29		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108013935	108013935	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:108013935G>A	uc001tmk.1	+	10	3146	c.2625G>A	c.(2623-2625)gcG>gcA	p.A875A	BTBD11_uc009zut.1_Silent_p.A756A|BTBD11_uc001tmj.3_Silent_p.A875A|BTBD11_uc001tml.1_Silent_p.A412A	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	875						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCTGAAAGCGAGCAAGGTAT	0.507000														77			9		0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55277720	55277720	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55277720G>A	uc001cyb.4	+	6	673	c.619_splice	c.e6-1	p.G207_splice	C1orf177_uc001cya.4_Splice_Site_p.G207_splice	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	207										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GTGCTCTAGGGGAGTGGTCTG	0.627000														119			25		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123279501	123279501	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:123279501C>T	uc021pzz.1	-	6	1578	c.931G>A	c.(931-933)Gtt>Att	p.V311I	FGFR2_uc021pzv.1_Intron|FGFR2_uc021pzw.1_Missense_Mutation_p.V196I|FGFR2_uc021pzx.1_Missense_Mutation_p.V222I|FGFR2_uc021pzy.1_Missense_Mutation_p.V311I|FGFR2_uc010qtl.2_Missense_Mutation_p.V311I|FGFR2_uc010qtm.2_Missense_Mutation_p.V196I|FGFR2_uc021qaa.1_Missense_Mutation_p.V311I|FGFR2_uc021qab.1_Missense_Mutation_p.V222I|FGFR2_uc021qac.1_Missense_Mutation_p.V241I|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.V330I|FGFR2_uc010qto.2_Missense_Mutation_p.V215I|FGFR2_uc001lfo.1_Missense_Mutation_p.V330I|FGFR2_uc010qtp.2_Missense_Mutation_p.V330I|FGFR2_uc001lfg.4_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	311	Ig-like C2-type 3.				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	p.K310R(2)		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)	ACCTTGAGAACCTTGAGGTAG	0.522000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					60			29		0	0	1	0	0
SPOCK2	9806	broad.mit.edu	37	10	73822580	73822580	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73822580C>T	uc001jso.2	-	10	1658	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	ANAPC16_uc021psn.1_Intron|SPOCK2_uc001jsp.3_Missense_Mutation_p.E405K	NM_001244950	NP_001231879	Q92563	TICN2_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 (SPOCK2), transcript variant 3, mRNA.	405	Glu-rich.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						tcggcctcctcgcctgcttcc	0.662000														21			7		0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102508940	102508940	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:102508940C>T	uc003kod.4	+	19	2887	c.2368C>T	c.(2368-2370)Ctt>Ttt	p.L790F	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.L790F|PPIP5K2_uc003kof.3_Missense_Mutation_p.L91F	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	790					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCGCTCAGACCTTCAGAGGAC	0.363000														54			29		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960931	51960931	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51960931G>A	uc002pwt.3	-	1	584	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	173	Ig-like C2-type 1.				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)		GAGCAGGTCAGGTTCCTGGAG	0.627000														101			30		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62041900	62041900	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62041900C>T	uc002jds.1	-	8	1457	c.1380G>A	c.(1378-1380)gaG>gaA	p.E460E		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	460					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCTCCTTATCCTCGGCCAGGG	0.532000														41			13		0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37904945	37904945	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:37904945C>T	uc002ogj.3	-	8	1619	c.687G>A	c.(685-687)ctG>ctA	p.L229L	ZNF569_uc002ogh.3_Silent_p.L46L|ZNF569_uc002ogi.3_Silent_p.L205L	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGAATTCTCAGATGTCTGA	0.363000														72			27		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11765357	11765357	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:11765357C>T	uc002rbk.1	+	23	4525	c.4225C>T	c.(4225-4227)Ccc>Tcc	p.P1409S	GREB1_uc002rbp.1_Missense_Mutation_p.P407S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1409						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAAGAAGTTGCCCTTTGACTA	0.463000														262			104		0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143993426	143993426	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:143993426G>A	uc003yxk.1	-	8	1485	c.1482C>T	c.(1480-1482)tcC>tcT	p.S494S		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	494					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			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)	TGAGGAGGGGGGACGTGCCAG	0.567000									Familial Hyperaldosteronism type I					57			24		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739651	62739651	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62739651C>T	uc001dah.4	-	2	1502	c.1125G>A	c.(1123-1125)gaG>gaA	p.E375E	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	375										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTTTGATTTCCTCTTCCTGCT	0.542000														101			33		0	0	1	0	0
OR2A7	401427	broad.mit.edu	37	7	143955944	143955944	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143955944C>T	uc011kuc.2	-	0	778	c.778G>A	c.(778-780)Gga>Aga	p.G260R	OR2A9P_uc003wec.1_Intron|OR2A9P_uc003wed.3_5'Flank	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					TATCTGGGTCCAACATACATG	0.463000														176			20		0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	420330	420330	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:420330G>A	uc003gae.3	-	4	1111	c.576C>T	c.(574-576)ttC>ttT	p.F192F	ABCA11P_uc003gac.2_Silent_p.F141F|ABCA11P_uc003gad.2_Non-coding_Transcript|ABCA11P_uc011buv.2_3'UTR|ABCA11P_uc010ibd.2_Silent_p.F192F					Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene (ABCA11P), non-coding RNA.																		CAGTACCCAAGAACTTGAGGC	0.488000														77			31		0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183096487	183096487	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:183096487C>T	uc001gpy.4	+	16	3328	c.3071C>T	c.(3070-3072)tCt>tTt	p.S1024F		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	1024	Laminin EGF-like 11.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACAATCGGTCTTGGCCTGGC	0.463000														70			29		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086942	100086942	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100086942C>T	uc003uvd.1	+	3	1757	c.1598C>T	c.(1597-1599)tCc>tTc	p.S533F	NYAP1_uc003uve.1_Missense_Mutation_p.S315F	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	533																	TGCCTGGCCTCCCCCCACAGC	0.697000														8			8		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94674868	94674868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94674868C>T	uc001dqj.4	-	3	748	c.379G>A	c.(379-381)Gat>Aat	p.D127N	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.D127N	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	127					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TGGAAGAGATCGTTTTTGTTT	0.323000														47			13		0	0	1	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77040010	77040010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:77040010C>T	uc002jwt.3	+	0	336	c.254C>T	c.(253-255)cCt>cTt	p.P85L	C1QTNF1_uc002jwp.3_Intron|C1QTNF1_uc002jwq.3_Intron|C1QTNF1_uc002jwr.4_Intron|C1QTNF1_uc002jws.3_Intron	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.	90						collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AACTCGGTGCCTTCCCTGTGT	0.592000														56			16		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6832146	6832146	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6832146C>T	uc002mfu.1	+	14	1540	c.1443C>T	c.(1441-1443)ggC>ggT	p.G481G	VAV1_uc010xjh.1_Silent_p.G449G|VAV1_uc010dva.1_Silent_p.G481G|VAV1_uc002mfv.1_Silent_p.G426G	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	481	PH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTGCCCAGGGCTATGAGCTGT	0.557000														35			17		0	0	1	0	0
CDC25A	993	broad.mit.edu	37	3	48209415	48209415	+	Missense_Mutation	SNP	G	A	A	rs141219026	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48209415G>A	uc003csh.1	-	9	1314	c.950C>T	c.(949-951)tCc>tTc	p.S317F	CDC25A_uc003csi.1_Missense_Mutation_p.S277F|CDC25A_uc021wxk.1_Missense_Mutation_p.S276F	NM_001789	NP_001780	P30304	MPIP1_HUMAN	Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA.	317					DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	p.S317S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		AGATGCCAGGGATAAAGACTG	0.443000														44			15		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932503	83932503	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83932503C>T	uc002bjt.1	-	3	1588	c.1500G>A	c.(1498-1500)gaG>gaA	p.E500E	BNC1_uc010uos.1_Silent_p.E488E	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	500					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGTTTGCTACCTCGGCAGGCG	0.527000														62			33		0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8610502	8610502	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8610502G>A	uc001qum.1	+	1	157	c.40G>A	c.(40-42)Ggc>Agc	p.G14S		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA.	14					defense response to fungus|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine secretion	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					AGAGAAAAGAGGCTGGTTGTC	0.483000														51			16		0	0	1	0	0
INTS4L1	285905	broad.mit.edu	37	7	64639830	64639830	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:64639830C>T	uc003ttw.3	+	4		c.713C>T								Homo sapiens integrator complex subunit 4-like 1 (INTS4L1), non-coding RNA.																		CTAACAACATCACCCTCCGAG	0.473000														96			14		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936779	15936779	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:15936779G>A	uc003jfn.1	+	3	1441	c.960G>A	c.(958-960)gtG>gtA	p.V320V		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	320					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.L319L(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTACCTGGTGATCTACTGCG	0.672000														25			8		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614464	3614464	+	Silent	SNP	G	A	A	rs150523532	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3614464G>A	uc010btn.3	-	4	885	c.474C>T	c.(472-474)ttC>ttT	p.F158F		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	158	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAGGCGGACGAAGTGCCTCA	0.657000														32			10		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176675568	176675568	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176675568G>A	uc001gkz.3	+	9	4603	c.3439G>A	c.(3439-3441)Gaa>Aaa	p.E1147K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1147					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGAGCTGGAGGAAGGTTTCAA	0.413000														48			16		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446683	226446683	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:226446683G>A	uc002voe.2	+	3	725	c.550G>A	c.(550-552)Gat>Aat	p.D184N	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	184																	ACCCCACAGCGATGAATATTC	0.413000														213			17		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40045876	40045876	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:40045876C>T	uc003ayc.3	+	9	1938	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	CACNA1I_uc003ayd.3_Silent_p.I611I|CACNA1I_uc003aye.3_Silent_p.I561I|CACNA1I_uc003ayf.3_Silent_p.I526I	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	646					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACCGGGGCATCATGATGGCCA	0.677000														33			9		0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87018049	87018049	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:87018049G>A	uc003dqn.3	-	2	992	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GATGTCAAAGGATAAGGCCAG	0.602000														123			21		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128477162	128477162	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:128477162G>A	uc002tpg.2	-	15	2636	c.2437C>T	c.(2437-2439)Cct>Tct	p.P813S		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	813					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGAGGGTGAGGTCCTCTCATC	0.617000														40			12		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111693359	111693359	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:111693359G>A	uc010hqa.3	+	17	4122	c.3711G>A	c.(3709-3711)tgG>tgA	p.W1237*	PHLDB2_uc003dyc.3_Nonsense_Mutation_p.W1221*|PHLDB2_uc003dyd.3_Nonsense_Mutation_p.W1194*|PHLDB2_uc003dyg.3_Nonsense_Mutation_p.W1237*|PHLDB2_uc003dyh.3_Nonsense_Mutation_p.W1194*|PHLDB2_uc003dyi.3_Nonsense_Mutation_p.W728*|PHLDB2_uc003dyj.3_Nonsense_Mutation_p.W292*	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	1237	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGCGGATCTGGATGGATGTTA	0.453000														151			14		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873264	36873265	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36873264_36873265GG>AA	uc003cgj.3	-	20	7925_7926	c.7677_7678CC>TT	c.(7675-7680)tgccct>tgTTct	p.P2560S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2560					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACCTGGCCAGGGCAGTCCATGC	0.569000														71			26		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905885	164905885	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:164905885C>T	uc003fej.4	-	1	3178	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	SLITRK3_uc003fek.3_Missense_Mutation_p.E912K|SLITRK3_uc021xgy.1_Missense_Mutation_p.E912K	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	912						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ACGTGCAGTTCCTTTAATTTG	0.532000										HNSCC(40;0.11)				80			30		0	0	1	0	0
PYGO1	26108	broad.mit.edu	37	15	55839341	55839341	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:55839341G>A	uc002adf.1	-	2	140	c.140C>T	c.(139-141)cCt>cTt	p.P47L	PYGO1_uc010bfl.1_Missense_Mutation_p.P47L	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.	47	Pro-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		AGGGAAAGAAGGTCCCTGAAA	0.363000														60			10		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8698473	8698473	+	Silent	SNP	C	T	T	rs145869401	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:8698473C>T	uc002wnb.3	+	13	1494	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	PLCB1_uc010zrb.1_Silent_p.F396F|PLCB1_uc002wna.3_Silent_p.F497F|PLCB1_uc002wnc.1_Silent_p.F396F|PLCB1_uc002wnd.1_Silent_p.F74F	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	497					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	p.M496I(1)		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						CCAGCATGTTCGAGCCCTCAT	0.522000														43			13		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68702871	68702871	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:68702871C>T	uc001ook.1	+	11	1839	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F	IGHMBP2_uc001ool.1_Silent_p.F203F|IGHMBP2_uc001oom.1_Silent_p.F157F	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	579					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TACTGTCCTTCGTCAGATCCA	0.537000														70			9		0	0	1	0	0
ZNF136	7695	broad.mit.edu	37	19	12297482	12297482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12297482C>T	uc002mti.3	+	3	436	c.289C>T	c.(289-291)Cct>Tct	p.P97S	ZNF136_uc010xmh.2_Missense_Mutation_p.P31S	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	97					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CAAGAAAATCCCTGGAGTGAA	0.403000														73			23		0	0	1	0	0
GLS	2744	broad.mit.edu	37	2	191795172	191795172	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:191795172C>T	uc002usf.2	+	12	1699	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S	GLS_uc002use.2_Missense_Mutation_p.P479S|GLS_uc002usg.1_Missense_Mutation_p.P140S|GLS_uc002ush.2_Missense_Mutation_p.P140S|GLS_uc010zgi.1_Missense_Mutation_p.P50S|GLS_uc010zgj.1_5'UTR|GLS_uc021vud.1_5'Flank	NM_014905	NP_055720	O94925	GLSK_HUMAN	Homo sapiens glutaminase (GLS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	479					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGTTGGTCTTCCTGCAAAATC	0.408000														67			15		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133748382	133748382	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:133748382C>T	uc004bzw.3	+	5	1046	c.1043C>T	c.(1042-1044)tCg>tTg	p.S348L	ABL1_uc004bzv.3_Missense_Mutation_p.S367L	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	348	Protein kinase.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	ACTCAGATCTCGTCAGCCATG	0.607000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									52			7		0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11052823	11052823	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:11052823G>A	uc002rax.3	+	0	761	c.271G>A	c.(271-273)Gag>Aag	p.E91K		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	91						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GTGTGTCATCGAGGTGTACTA	0.562000														40			19		0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1079966	1079966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:1079966G>A	uc002lqz.1	+	12	1783	c.1552G>A	c.(1552-1554)Gcg>Acg	p.A518T	HMHA1_uc010xgd.1_Missense_Mutation_p.A534T|HMHA1_uc010xge.1_Missense_Mutation_p.A358T|HMHA1_uc002lra.1_Missense_Mutation_p.A358T|HMHA1_uc002lrb.1_Missense_Mutation_p.A401T|HMHA1_uc002lrc.1_Missense_Mutation_p.A153T	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	518					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		TATGCAGACGGCGCCGCTGCC	0.672000														105			52		0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	57002771	57002771	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57002771G>A	uc001cyj.2	-	1	721	c.153C>T	c.(151-153)ttC>ttT	p.F51F		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	51					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CGATGATGAGGAAGGGGAGGC	0.458000														74			20		0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405287	68405287	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:68405287C>T	uc002ewa.3	-	2	1220	c.798G>A	c.(796-798)caG>caA	p.Q266Q	SMPD3_uc010cfe.3_Silent_p.Q266Q|SMPD3_uc010vlh.2_Silent_p.Q266Q	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	266					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CGTTCCTGGCCTGGCCCCCAG	0.716000														30			4		0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764629	110764629	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:110764629A>G	uc003vft.4	+	3	2847	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.K601E|LRRN3_uc003vfs.4_Missense_Mutation_p.K601E|LRRN3_uc022akc.1_Missense_Mutation_p.K601E	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	601	Fibronectin type-III.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CATCTATCAGAAAAACAGAAA	0.348000														58			5		0	0	1	0	0
C10orf81	79949	broad.mit.edu	37	10	115526413	115526413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115526413G>A	uc001lat.2	+	2	704	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	C10orf81_uc009xyc.2_5'UTR|C10orf81_uc001lar.2_Missense_Mutation_p.E54K|C10orf81_uc001las.2_Intron	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	48	PH.							p.I48I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		AAAGGCTGGGGAAAAGAGCTT	0.338000														80			42		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6946681	6946681	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6946681C>T	uc001qra.1	+	11	1686	c.1652C>T	c.(1651-1653)cCg>cTg	p.P551L	GPR162_uc001qrb.1_Missense_Mutation_p.P359L	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						TACTTCTCCCCGGAACGGCCC	0.657000														14			5		0	0	1	0	0
GTPBP3	84705	broad.mit.edu	37	19	17452296	17452296	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17452296C>T	uc002ngg.4	+	7	1454	c.1359C>T	c.(1357-1359)gaC>gaT	p.D453D	GTPBP3_uc010xpo.2_Silent_p.D443D|GTPBP3_uc010eas.3_Silent_p.D421D|GTPBP3_uc002ngh.4_Silent_p.D400D	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	421					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GGTGTGGGGACCCGTCCACAG	0.557000														64			21		0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5172952	5172952	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5172952G>A	uc010qyy.2	-	0	648	c.648C>T	c.(646-648)ttC>ttT	p.F216F		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	216					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAATGTGATGAATGTGAGGT	0.413000														99			48		0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12819318	12819318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12819318C>T	uc001auh.3	+	2	517	c.301C>T	c.(301-303)Cat>Tat	p.H101Y	C1orf158_uc010obe.1_Missense_Mutation_p.H101Y	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA.	101										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTATGACGACCATTACAACCG	0.567000														166			74		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196723513	196723513	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196723513C>T	uc002utj.4	-	42	7853	c.7752G>A	c.(7750-7752)atG>atA	p.M2584I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2584	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCTCTTTTTCATTTTCATTA	0.368000														118			38		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21235332	21235332	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21235332G>A	uc002red.3	-	25	4536	c.4408C>T	c.(4408-4410)Cat>Tat	p.H1470Y		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1470					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.H1470Q(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)	GAGTCCAAATGAACTGAAGCA	0.403000														80			26		0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60476093	60476093	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:60476093G>A	uc001czs.2	-	8	1271	c.1163C>T	c.(1162-1164)tCt>tTt	p.S388F	C1orf87_uc001czr.1_5'Flank	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	388							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CAAATCAGAAGAAGCTCTGGT	0.388000														72			32		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167689675	167689675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:167689675G>A	uc010jjd.3	+	28	8158	c.8158G>A	c.(8158-8160)Gag>Aag	p.E2720K	ODZ2_uc003lzr.4_Missense_Mutation_p.E2490K|ODZ2_uc003lzt.4_Missense_Mutation_p.E2093K|ODZ2_uc010jje.3_Missense_Mutation_p.E1984K	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)		GACTGAGGGCGAGAAGCAGCA	0.642000														13			4		0	0	1	0	0
C14orf135	64430	broad.mit.edu	37	14	60591609	60591609	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:60591609C>T	uc001xer.4	+	7	2540	c.2018C>T	c.(2017-2019)tCt>tTt	p.S673F	C14orf135_uc001xeq.2_Missense_Mutation_p.S673F|C14orf135_uc010apm.3_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	907						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		TGTTCACATTCTCACTTAGTA	0.423000														167			11		0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166536025	166536025	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166536025C>T	uc002udf.3	+	6	1896	c.1520C>T	c.(1519-1521)tCc>tTc	p.S507F	CSRNP3_uc002udg.3_Missense_Mutation_p.S507F	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	507					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGCTCCTCTTCCGAAAATGAT	0.512000														49			19		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41710281	41710281	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41710281C>T	uc002yyq.1	-	7	1982	c.1530G>A	c.(1528-1530)atG>atA	p.M510I	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	510	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGATGTTTTTCATTGGTCGAA	0.418000														52			13		0	0	1	0	0
TPST2	8459	broad.mit.edu	37	22	26937530	26937530	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26937530G>A	uc003acw.3	-	2	408	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	TPST2_uc003acx.3_Nonsense_Mutation_p.Q23*|TPST2_uc011akf.1_Nonsense_Mutation_p.Q23*	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	23					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TGTCCCAGCTGAACCGCCAGC	0.741000														18			3		0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61468560	61468560	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61468560C>T	uc002ydm.3	+	29	1732	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	COL9A3_uc002ydn.3_Nonsense_Mutation_p.R71*	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	577	Triple-helical region 2 (COL2).				axon guidance	collagen type IX		p.R577Q(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCCTGGCGCTCGAGGACCCCC	0.672000														90			44		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3678588	3678588	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3678588G>A	uc002wja.3	-	7	1979	c.1979C>T	c.(1978-1980)tCc>tTc	p.S660F	SIGLEC1_uc002wiz.4_Missense_Mutation_p.S660F	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	660	Ig-like C2-type 6.				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						CATGCGTGGGGAACAGCCCCC	0.622000														74			32		0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6752821	6752821	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6752821G>A	uc001qpu.1	-	5	1009	c.961C>T	c.(961-963)Cac>Tac	p.H321Y	ACRBP_uc010sfg.1_Missense_Mutation_p.H288Y	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	321						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GCCTCTGTGTGGGGCAGCTGC	0.587000														87			30		0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134163082	134163082	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:134163082C>T	uc009zdf.3	+	8	1215	c.855C>T	c.(853-855)ttC>ttT	p.F285F	GLB1L3_uc010scs.2_Silent_p.F285F|GLB1L3_uc010sct.2_Silent_p.F137F|GLB1L3_uc010scu.1_5'UTR	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	285					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AGGATACTTTCAATCAGCTTC	0.478000														30			12		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124979297	124979297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:124979297C>T	uc010flu.3	+	1	462	c.98C>T	c.(97-99)cCa>cTa	p.P33L	CNTNAP5_uc002tno.3_Missense_Mutation_p.P33L	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	33	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.D32N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGTGATGATCCACTAGCATCC	0.448000														14			4		0	0	1	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74641768	74641768	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:74641768C>T	uc004ecg.3	-	8	1272	c.794G>A	c.(793-795)gGc>gAc	p.G265D	ZDHHC15_uc004ech.3_Missense_Mutation_p.G256D|ZDHHC15_uc011mqo.1_Non-coding_Transcript	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	Homo sapiens zinc finger, DHHC-type containing 15 (ZDHHC15), transcript variant 1, mRNA.	265						integral to membrane	zinc ion binding	p.G265C(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CTTGATGAAGCCAAGGTTGAA	0.433000														28			21		0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67430791	67430791	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67430791G>A	uc001omr.3	-	9	1492	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	ALDH3B2_uc001oms.3_Silent_p.P351P	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	351					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CCAGGCCGGAGGGGGCGAGCA	0.617000														41			20		0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11197563	11197563	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:11197563C>T	uc004cup.1	-	6	2212	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.E447K|ARHGAP6_uc004cum.1_Missense_Mutation_p.E244K|ARHGAP6_uc004cun.1_Missense_Mutation_p.E267K|ARHGAP6_uc010neb.1_Missense_Mutation_p.E269K|ARHGAP6_uc011mif.1_Missense_Mutation_p.E244K	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	447	Rho-GAP.				Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGGTCAAATTCCTCACGTAAC	0.517000														25			16		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4511239	4511239	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4511239C>T	uc002mar.1	-	2	2691	c.2691G>A	c.(2689-2691)ggG>ggA	p.G897G	PLIN4_uc010dub.1_5'UTR	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	897	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCTGGACAGTCCCTTTGGCCA	0.602000														115			32		0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41439581	41439581	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:41439581G>A	uc003ckv.4	-	34	3868	c.3667C>T	c.(3667-3669)Ctc>Ttc	p.L1223F		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	1223							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ATTCTTCTGAGAATCCTTAAC	0.478000														100			35		0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17578719	17578719	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17578719C>T	uc002zly.3	+	2	327	c.196C>T	c.(196-198)Cga>Tga	p.R66*		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	66					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	p.R66*(2)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GATTCACCCTCGAAACCTGAC	0.577000														48			21		0	0	1	0	0
OPALIN	93377	broad.mit.edu	37	10	98108055	98108055	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98108055C>T	uc001kmj.3	-	4	679	c.240G>A	c.(238-240)aaG>aaA	p.K80K	OPALIN_uc010qor.2_Silent_p.K70K|OPALIN_uc001kmi.3_Silent_p.K70K|OPALIN_uc001kmk.3_Silent_p.K57K|OPALIN_uc010qos.2_Non-coding_Transcript	NM_033207	NP_149984	Q96PE5	OPALI_HUMAN	Homo sapiens oligodendrocytic myelin paranodal and inner loop protein (OPALIN), transcript variant 1, mRNA.	80						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CCTCAGATATCTTGGGATTGT	0.333000														62			17		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10545925	10545925	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10545925T>C	uc002gmq.2	-	15	1785	c.1697A>G	c.(1696-1698)aAg>aGg	p.K566R		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	566	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CACCTTGGGCTTCTGGAAGTT	0.532000														81			59		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183694775	183694775	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:183694775C>T	uc003ivd.1	+	21	5118	c.5043C>T	c.(5041-5043)atC>atT	p.I1681I		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1681					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TGTCCTCGATCGATTCTTTCT	0.463000														148			19		0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25313252	25313252	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:25313252C>T	uc001isi.4	+	2	1429	c.1100C>T	c.(1099-1101)cCa>cTa	p.P367L	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Missense_Mutation_p.P367L	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	367					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	CACTGTATCCCACCAAGTTGC	0.388000														114			36		0	0	1	0	0
KCNG3	170850	broad.mit.edu	37	2	42720426	42720426	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:42720426G>A	uc002rsn.3	-	0	812	c.216C>T	c.(214-216)ttC>ttT	p.F72F	MTA3_uc002rso.1_5'Flank|KCNG3_uc002rsm.3_Silent_p.F72F	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 3 (KCNG3), transcript variant 1, mRNA.	72						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						AGAGCAGGATGAAGCCGAAGG	0.662000														25			13		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62039787	62039787	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62039787C>T	uc002yey.1	-	15	2043	c.1866G>A	c.(1864-1866)cgG>cgA	p.R622R	KCNQ2_uc002yez.1_Silent_p.R591R|KCNQ2_uc002yfa.1_Silent_p.R604R|KCNQ2_uc002yfb.1_Silent_p.R594R	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	622					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCTTCCCGAGCCGTCCCATCA	0.706000														19			6		0	0	1	0	0
USO1	8615	broad.mit.edu	37	4	76695903	76695903	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:76695903C>T	uc003hiu.3	+	6	652	c.477C>T	c.(475-477)ttC>ttT	p.F159F	USO1_uc003hiv.3_Silent_p.F45F|USO1_uc003hiw.3_Silent_p.F45F	NM_003715	NP_003706	O60763	USO1_HUMAN	Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA.	210	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	Golgi membrane|cytosol	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAAATGCTTTCGAGAGACTAC	0.383000														108			39		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30740440	30740440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30740440C>T	uc002dze.1	+	25	6197	c.5812C>T	c.(5812-5814)Cct>Tct	p.P1938S	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P1733S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1938					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)			CCCCATCGGCCCTCGTTCTCC	0.597000														67			28		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47332457	47332457	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:47332457G>A	uc003tnw.3	-	25	4177	c.3819C>T	c.(3817-3819)gcC>gcT	p.A1273A	TNS3_uc022acn.1_Silent_p.A830A	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1273	SH2.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGCACGGCAAGGCCAAGGGCG	0.537000														59			16		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027464	55027464	+	Missense_Mutation	SNP	C	T	T	rs112730552	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:55027464C>T	uc002xxp.2	+	5	1457	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	CASS4_uc002xxq.4_Missense_Mutation_p.S411F|CASS4_uc010zze.1_Missense_Mutation_p.S357F|CASS4_uc002xxr.2_Missense_Mutation_p.S411F|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	411	Ser-rich.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AGCATCGTTTCCTCGTGCTCC	0.552000														26			15		0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49848734	49848734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49848734C>T	uc003cxr.3	-	8	1265	c.1094G>A	c.(1093-1095)gGt>gAt	p.G365D		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	365	2 approximate repeats.			GVLSPMVAMLGAVAAQEVLKAISR -> RCLEPMVACWVSS CPGSAEGNLQ (in Ref. 1; AAA75388 and 2; AAG49557).	ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGCTACTGCACCCAGCATGGC	0.597000														59			22		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35781030	35781030	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:35781030C>T	uc011axy.2	+	15	2081	c.1869C>T	c.(1867-1869)ccC>ccT	p.P623P	ARPP21_uc003cga.3_Silent_p.P603P|ARPP21_uc003cgb.3_Silent_p.P622P|ARPP21_uc003cgf.3_Silent_p.P458P|ARPP21_uc003cgg.3_Silent_p.P145P	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	622	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGCCCCCTCCCTCACCACAGG	0.562000														49			23		0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32030581	32030581	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:32030581G>A	uc011axg.2	+	1	559	c.10G>A	c.(10-12)Gag>Aag	p.E4K	ZNF860_uc021wuv.1_Missense_Mutation_p.E4K	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						CATGTTACGTGAGGAAGCAGC	0.453000														88			29		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107013176	107013176	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:107013176G>A	uc021ser.1	-	218		c.8700C>T								Parts of antibodies, mostly variable regions.																		AGCTGTACAGGAGAGTCTCAG	0.547000														85			26		0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130059685	130059685	+	Silent	SNP	C	T	T	rs142848651	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:130059685C>T	uc001qfw.3	+	4	685	c.492C>T	c.(490-492)caC>caT	p.H164H	ST14_uc010sca.1_5'Flank	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	164					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCCCGCAGCACCTGGTGGAGG	0.677000														110			50		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102496039	102496039	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102496039G>A	uc001phc.3	-	0	25	c.12C>T	c.(10-12)ctC>ctT	p.L4L		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	4					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CAGATGCAGGGAGCACCTTCA	0.532000														44			15		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885739	39885739	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:39885739C>T	uc001zkh.3	+	18	3316	c.3137C>T	c.(3136-3138)tCc>tTc	p.S1046F	THBS1_uc010bbi.3_Missense_Mutation_p.S518F	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	1046	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GTCACCCAGTCCTACTGGGAC	0.547000														129			50		0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45009349	45009349	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:45009349G>A	uc003tmh.2	-	10	1602	c.1458C>T	c.(1456-1458)acC>acT	p.T486T	MYO1G_uc003tmg.2_Silent_p.T248T|MYO1G_uc010kym.2_Silent_p.T371T|MYO1G_uc003tmi.1_Silent_p.T398T|MYO1G_uc022acj.1_5'Flank|MYO1G_uc003tmj.2_Silent_p.T248T	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	486	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GCATGTCCAGGGTCTGCAGGA	0.662000														110			45		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38913777	38913777	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38913777C>T	uc021wvy.1	-	19	3601	c.3402G>A	c.(3400-3402)gtG>gtA	p.V1134V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1134					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGAGGGTGGTCACAGAGACCT	0.473000														87			27		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80772140	80772140	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:80772140G>A	uc010ysh.2	+	8	1329	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	CTNNA2_uc010yse.2_Missense_Mutation_p.E442K|CTNNA2_uc010ysf.2_Missense_Mutation_p.E442K|CTNNA2_uc010ysg.2_Missense_Mutation_p.E442K|CTNNA2_uc010ysi.2_Missense_Mutation_p.E74K	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	442					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTCCAACAATGAAGAAGGGGT	0.468000														44			11		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131859669	131859669	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:131859669C>T	uc003ytd.4	-	11	2758	c.2502_splice	c.e11+1	p.E834_splice	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	834					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TAAATAAATACCTCTGGGTAG	0.423000										HNSCC(32;0.087)				21			13		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105905303	105905303	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105905303T>C	uc001kxw.3	-	30	3991	c.3875A>G	c.(3874-3876)aAa>aGa	p.K1292R	WDR96_uc009xxq.3_Missense_Mutation_p.K571R	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1292										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAATTCCTTTTTAAAGCTGCG	0.363000														51			11		0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53775537	53775537	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53775537C>T	uc001scw.3	+	1	199	c.102C>T	c.(100-102)gcC>gcT	p.A34A	SP1_uc021qyf.1_Silent_p.A34A|SP1_uc010sog.2_Silent_p.A27A	NM_138473	NP_612482	P08047	SP1_HUMAN	Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.	34	Repressor domain.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GTGGTGGTGCCTTTTCACAGG	0.478000											OREG0021870	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		76			10		0	0	1	0	0
SCGB1D4	404552	broad.mit.edu	37	11	62065000	62065000	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62065000C>T	uc001ntd.1	-	1	240	c.186G>A	c.(184-186)gtG>gtA	p.V62V		NM_206998	NP_996881	Q6XE38	SG1D4_HUMAN	Homo sapiens secretoglobin, family 1D, member 4 (SCGB1D4), mRNA.	62						extracellular region	binding			lung(1)|prostate(1)	2						TGCAGTGCTTCACTTCCAACT	0.428000														261			97		0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701182	143701183	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143701182_143701183CC>TT	uc003wdt.1	+	0	93_94	c.93_94CC>TT	c.(91-96)ttcctt>ttTTtt	p.L32F		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L32P(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TTCTGATATTCCTTGTGGCCTA	0.485000														49			8		0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224916	26224916	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:26224916G>A	uc003sxq.3	+	3	1870	c.1598G>A	c.(1597-1599)aGa>aAa	p.R533K		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA.	533					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GACACAGATAGAAACTTGAGC	0.428000														83			34		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140123538	140123538	+	Silent	SNP	C	T	T	rs142111816	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:140123538C>T	uc003etn.3	+	3	757	c.567C>T	c.(565-567)tcC>tcT	p.S189S	CLSTN2_uc003etm.2_Silent_p.S189S	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	189	Cadherin 2.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.S189Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AGGACTGCTCCCCACAGTACA	0.537000										HNSCC(16;0.037)				89			19		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	98006765	98006765	+	Missense_Mutation	SNP	C	T	T	rs143109144	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98006765C>T	uc001kls.4	-	1	266	c.88G>A	c.(88-90)Ggt>Agt	p.G30S	BLNK_uc001kme.4_5'UTR|BLNK_uc001klt.4_5'UTR|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_5'UTR|BLNK_uc001klv.4_Missense_Mutation_p.G30S|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Missense_Mutation_p.G30S|BLNK_uc001kly.4_Missense_Mutation_p.G30S|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.G30S|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_5'UTR|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	30					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		ATTATTCCACCTTCATTGTTT	0.254000														89			17		0	0	1	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323749	44323749	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:44323749C>T	uc002zcm.3	+	2	693	c.627C>T	c.(625-627)acC>acT	p.T209T	NDUFV3_uc002zcn.3_Intron	NM_021075	NP_066553	P56181	NDUV3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa (NDUFV3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	40					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	AAGAGAAAACCTTGCTGCAGA	0.522000														119			14		0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160465879	160465879	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160465879C>T	uc001fwe.2	-	1	424	c.354G>A	c.(352-354)aaG>aaA	p.K118K	SLAMF6_uc010pji.2_Intron|SLAMF6_uc001fwd.2_Silent_p.K118K|SLAMF6_uc010pjh.2_Silent_p.K69K|SLAMF6_uc010pjj.2_Intron|SLAMF6_uc009wtm.2_Silent_p.K69K	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	118						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AACTGGACAGCTTTGCAGAGG	0.423000														129			56		0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30202521	30202521	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:30202521G>A	uc003agr.3	-	10	1182	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	ASCC2_uc011akr.2_Silent_p.F270F|ASCC2_uc003ags.3_Non-coding_Transcript	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			ACTCTTCGATGAAGCCCTGAA	0.552000														30			12		0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55059688	55059688	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55059688C>T	uc001cxm.2	+	4	623	c.447C>T	c.(445-447)ttC>ttT	p.F149F	ACOT11_uc001cxj.2_Silent_p.F27F|ACOT11_uc001cxk.3_Silent_p.F115F|ACOT11_uc001cxl.2_Silent_p.F149F	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	149	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TGGCCACCTTCGTGGCCCGCC	0.632000														57			6		0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6260441	6260441	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6260441G>A	uc001mco.3	+	0	120	c.5G>A	c.(4-6)aGc>aAc	p.S2N	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Intron	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	2					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAACCATGAGCCAGGACACC	0.577000														65			27		0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44777202	44777202	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44777202G>A	uc021uvi.1	+	4	495	c.389G>A	c.(388-390)aGg>aAg	p.R130K	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_5'UTR|ZNF233_uc002oyz.2_Missense_Mutation_p.R130K	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CAAGGCAAGAGGTCCAAGTTG	0.383000														88			20		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2910072	2910072	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2910072G>A	uc022aqr.1	-	49	7962	c.7572C>T	c.(7570-7572)ggC>ggT	p.G2524G	CSMD1_uc011kwj.2_Silent_p.G1854G|CSMD1_uc010lrg.3_Silent_p.G593G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2525	Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAAGCTTGAAGCCCTCATGAC	0.507000														14			3		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424154	125424154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125424154C>T	uc022bmz.1	+	0	160	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CTCAGACACTCGTCTCCAGAC	0.468000														95			45		0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795263	142795263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:142795263C>T	uc004fbz.3	-	1	1169	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	139										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGTCTTCGTCCTCCTGT	0.517000														201			15		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73544831	73544831	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73544831G>A	uc001jrx.4	+	40	6067	c.5677G>A	c.(5677-5679)Gag>Aag	p.E1893K		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1896	Cadherin 18.				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						GGGCAACCGCGAGCGGGCCTT	0.592000														53			8		0	0	1	0	0
NDUFS2	4720	broad.mit.edu	37	1	161180451	161180451	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161180451C>T	uc001fyv.3	+	9	1385	c.937C>T	c.(937-939)Cag>Tag	p.Q313*	NDUFS2_uc010pki.2_Nonsense_Mutation_p.Q215*|NDUFS2_uc001fyw.3_Nonsense_Mutation_p.Q313*|NDUFS2_uc010pkj.2_Nonsense_Mutation_p.Q262*	NM_004550	NP_004541	O75306	NDUS2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) (NDUFS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	313					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	TGTTTACGACCAGGTTGAGTT	0.527000														49			13		0	0	1	0	0
DYDC2	84332	broad.mit.edu	37	10	82122300	82122300	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:82122300C>T	uc001kca.1	+	2	481	c.101C>T	c.(100-102)gCt>gTt	p.A34V	DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Missense_Mutation_p.A34V	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Homo sapiens DPY30 domain containing 2 (DYDC2), mRNA.	34							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GAATACCTGGCTCACTGGCTT	0.498000														58			13		0	0	1	0	0
CSN1S1	1446	broad.mit.edu	37	4	70810643	70810643	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:70810643C>T	uc003hep.1	+	14	527	c.478C>T	c.(478-480)Cct>Tct	p.P160S	CSN1S1_uc003heq.1_Missense_Mutation_p.P151S|CSN1S1_uc003her.1_Missense_Mutation_p.P152S	NM_001890	NP_001881	P47710	CASA1_HUMAN	Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA.	160						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						GCAGTATGTTCCTTTCCCACC	0.408000														226			84		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588260	247588260	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247588260G>A	uc001icr.3	+	4	1653	c.1515G>A	c.(1513-1515)atG>atA	p.M505I	NLRP3_uc001ics.3_Missense_Mutation_p.M505I|NLRP3_uc001icu.3_Missense_Mutation_p.M505I|NLRP3_uc001icw.3_Missense_Mutation_p.M505I|NLRP3_uc001icv.3_Missense_Mutation_p.M505I|NLRP3_uc010pyw.2_Missense_Mutation_p.M503I|NLRP3_uc001ict.1_Missense_Mutation_p.M503I	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	505	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCTGAGGATGAACCTGTTCC	0.502000														40			23		0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367098	142367098	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:142367098C>T	uc022bby.1	-	0	926	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	GPR20_uc003ywf.3_Missense_Mutation_p.R309Q	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	309						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GAAGAGGCCTCGGACGGTGGC	0.637000														53			8		0	0	1	0	0
C17orf64	124773	broad.mit.edu	37	17	58506739	58506739	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:58506739C>T	uc002iyq.3	+	4	535	c.446C>T	c.(445-447)tCg>tTg	p.S149L		NM_181707	NP_859058	Q86WR6	CQ064_HUMAN	Homo sapiens chromosome 17 open reading frame 64 (C17orf64), mRNA.	149										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			TTCTGCGCCTCGGATGCGCCG	0.587000														42			12		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729430	196729430	+	Nonsense_Mutation	SNP	G	A	A	rs115474479	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196729430G>A	uc002utj.4	-	40	7050	c.6949C>T	c.(6949-6951)Cga>Tga	p.R2317*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2317	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2317*(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGCAAATCGAAACAAGACA	0.443000														148			51		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706525	96706525	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:96706525C>T	uc010how.1	+	2	845	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	EPHA6_uc003drp.1_Missense_Mutation_p.R268C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	173						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R174C(3)		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						CACTGAAATTCGTGAGGTGGG	0.443000														238			89		0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8692540	8692540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8692540C>T	uc001quo.1	-	1	206	c.41G>A	c.(40-42)aGa>aAa	p.R14K		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	14						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					GAAGCATCCTCTCTCTGTAGA	0.408000														119			29		0	0	1	0	0
ZMYND10	51364	broad.mit.edu	37	3	50380626	50380626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:50380626C>T	uc003dag.1	-	5	668	c.522G>A	c.(520-522)aaG>aaA	p.K174K	RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Silent_p.K174K|ZMYND10_uc010hlm.1_Silent_p.K131K	NM_015896	NP_056980	O75800	ZMY10_HUMAN	Homo sapiens zinc finger, MYND-type containing 10 (ZMYND10), mRNA.	174						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCTCTGCCTGCTTCTGCAGCT	0.577000										TSP Lung(30;0.18)				39			19		0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102742443	102742443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102742443C>T	uc001phk.3	-	3	603	c.506G>A	c.(505-507)gGa>gAa	p.G169E		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	169					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	ATGGAAGTCTCCATGAGCTTT	0.443000														14			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584156	179584156	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179584156G>A	uc021vsy.1	-	79	20454	c.20229C>T	c.(20227-20229)ttC>ttT	p.F6743F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F3404F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7670	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTGCGGATGAAGGAAGGAG	0.502000														85			24		0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158536344	158536344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:158536344G>A	uc003woc.1	-	15	1462	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	ESYT2_uc003wob.1_Missense_Mutation_p.S584F|ESYT2_uc003wny.1_5'Flank|ESYT2_uc003wnz.1_Missense_Mutation_p.S23F|ESYT2_uc003woa.1_Missense_Mutation_p.S161F	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	Homo sapiens extended synaptotagmin-like protein 2 (ESYT2), mRNA.	612	C2 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GTTCCCCAGGGAACACTGGTG	0.557000														38			13		0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563854	75563854	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:75563854G>A	uc002fej.1	-	4	768	c.447C>T	c.(445-447)ttC>ttT	p.F149F	CHST5_uc002fei.3_Silent_p.F143F|CHST5_uc021tlk.1_Silent_p.F143F	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	143					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TTGCCCAGTTGAAAAAGGCGG	0.607000														72			33		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11583189	11583189	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11583189G>A	uc002gne.3	+	17	3537	c.3469G>A	c.(3469-3471)Gaa>Aaa	p.E1157K	DNAH9_uc010coo.3_Missense_Mutation_p.E451K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1157	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCTGTTAAAGAACGGCAGAG	0.408000														88			48		0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33449694	33449694	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:33449694C>T	uc003xjp.3	-	3	806	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	DUSP26_uc003xjq.3_Missense_Mutation_p.R158Q	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA.	158	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GGTGGCGGATCGGCTCACGCC	0.577000														18			9		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160035504	160035504	+	Silent	SNP	C	T	T	rs148016866	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:160035504C>T	uc002uag.3	+	13	2614	c.2340C>T	c.(2338-2340)ggC>ggT	p.G780G	TANC1_uc010fol.1_Silent_p.G674G|TANC1_uc010zcm.2_Silent_p.G772G|TANC1_uc010fom.1_Silent_p.G586G	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	780						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTAATGCTGGCCACATCCAGG	0.572000														205			46		0	0	1	0	0
MSRB3	253827	broad.mit.edu	37	12	65857063	65857063	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:65857063G>A	uc001ssn.3	+	5	666	c.540G>A	c.(538-540)ggG>ggA	p.G180G	MSRB3_uc009zqp.3_Silent_p.G173G|MSRB3_uc001ssm.3_Silent_p.G173G|MSRB3_uc021qzy.1_Silent_p.G173G	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript variant 1, mRNA.	180					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GAGGCAGTGGGGTCGCCAGCC	0.502000														44			14		0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132232403	132232403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:132232403G>A	uc003kyd.3	-	10	2327	c.1919C>T	c.(1918-1920)tCa>tTa	p.S640L	AFF4_uc011cxk.2_Missense_Mutation_p.S318L|AFF4_uc003kye.1_Missense_Mutation_p.S640L	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	640					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GATTTCCCTTGATTTCTGGGA	0.423000														64			11		0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92568189	92568189	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:92568189G>A	uc001doo.3	+	2	774	c.507G>A	c.(505-507)gaG>gaA	p.E169E	BTBD8_uc010otc.2_Non-coding_Transcript	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA.	169						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		AAATTCCAGAGGATATCAGTG	0.328000														76			33		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	T	T	rs121913358		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:140481402C>T	uc003vwc.4	-	10	1467	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		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.G469A(49)|p.G469V(30)|p.G469E(12)|p.G469S(12)|p.G469R(7)|p.F468S(1)|p.F468C(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)	GTAGACTGTTCCAAATGATCC	0.373000	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	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					146			31		0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	13984545	13984545	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:13984545G>A	uc001mle.3	+	0	362	c.94G>A	c.(94-96)Gag>Aag	p.E32K		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	32	Reelin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CTTCTCCGACGAGACCCTGGA	0.711000														4			4		0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40540618	40540618	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40540618G>A	uc002omu.3	-	4	2213	c.2148C>T	c.(2146-2148)taC>taT	p.Y716Y	ZNF780B_uc002omv.3_Silent_p.Y568Y	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	716					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGAATTCGGTAATGTTCAG	0.408000														74			27		0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38539158	38539158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38539158C>T	uc003cih.2	+	1	298	c.202C>T	c.(202-204)Cct>Tct	p.P68S	EXOG_uc010hhg.3_Non-coding_Transcript|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_5'UTR|EXOG_uc011ayq.1_Intron|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_5'UTR|EXOG_uc010hhe.2_5'UTR|EXOG_uc003cik.2_5'UTR	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	Homo sapiens endo/exonuclease (5'-3'), endonuclease G-like (EXOG), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	68						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						ATTTGGATTCCCTTTAACTGG	0.393000														61			31		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55874940	55874940	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55874940T>A	uc003tqz.2	-	7	946	c.829A>T	c.(829-831)Aat>Tat	p.N277Y		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	277					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCACAGTGATTTTCATTTTCC	0.308000														44			23		0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138219681	138219681	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:138219681G>A	uc003esl.3	-	13	1462	c.1264C>T	c.(1264-1266)Cct>Tct	p.P422S	CEP70_uc011bmk.2_Missense_Mutation_p.P402S|CEP70_uc011bml.2_Missense_Mutation_p.P404S|CEP70_uc011bmm.2_Missense_Mutation_p.P270S|CEP70_uc003esm.3_Missense_Mutation_p.P422S	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	422					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTAAGCCAAGGTACCAGTTCT	0.289000														88			18		0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16769358	16769358	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:16769358C>T	uc010exm.2	-	1	178	c.30G>A	c.(28-30)agG>agA	p.R10R	FAM49A_uc002rck.2_Silent_p.R10R	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	10						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TTTCAATTTCCCTGGTAAGGA	0.333000														45			28		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419274	130419274	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:130419274G>A	uc004ewe.4	-	4	829	c.546C>T	c.(544-546)gcC>gcT	p.A182A	IGSF1_uc004ewd.3_Silent_p.A182A|IGSF1_uc022cdv.1_Silent_p.A173A|IGSF1_uc004ewf.2_Silent_p.A162A|IGSF1_uc022cdw.1_Silent_p.A182A|IGSF1_uc004ewg.3_Silent_p.A182A	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	182	Ig-like C2-type 2.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGGAGAATATGGCCATTGTCC	0.517000														52			50		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43821218	43821218	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:43821218C>T	uc010skx.2	-	26	4000	c.4000G>A	c.(4000-4002)Gaa>Aaa	p.E1334K	ADAMTS20_uc001rno.1_Missense_Mutation_p.E452K	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1334	TSP type-1 9.					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)		TGTCCATTTTCATCCTGGCAG	0.488000														40			18		0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58734141	58734141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:58734141C>T	uc002iyt.2	+	4	1431	c.1199C>T	c.(1198-1200)tCc>tTc	p.S400F	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	400					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GACAGCCCTTCCTATAATAGT	0.393000														93			43		0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57013055	57013055	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:57013055C>T	uc003pdm.1	+	9	2396	c.2172C>T	c.(2170-2172)tgC>tgT	p.C724C	ZNF451_uc003pdl.3_Silent_p.C724C|ZNF451_uc003pdn.1_Silent_p.C724C|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Silent_p.C724C	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	724					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CTTGTGGTTGCCGTGAGAGTT	0.358000														37			10		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70904966	70904966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:70904966G>A	uc021vjc.1	-	11	1692	c.1427C>T	c.(1426-1428)cCg>cTg	p.P476L	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.P476L|ADD2_uc002sgz.3_Missense_Mutation_p.P476L|ADD2_uc010fdt.2_Missense_Mutation_p.P476L|ADD2_uc002shc.2_Missense_Mutation_p.P476L|ADD2_uc010fdu.2_Missense_Mutation_p.P492L	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	476					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GATGCGAATCGGCATGCCACT	0.532000														81			8		0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121106698	121106698	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:121106698C>T	uc002tmn.2	+	1	518	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	158					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CTCCCGGGTCCGCCTATACTT	0.557000														66			31		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6243299	6243300	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:6243299_6243300GG>AA	uc002kmz.4	-	6	613_614	c.453_454CC>TT	c.(451-456)atccct>atTTct	p.P152S	L3MBTL4_uc002kmy.4_Missense_Mutation_p.P152S|L3MBTL4_uc010dkt.3_Missense_Mutation_p.P152S	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	152					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTACCCTTAGGGATGTGCAGTT	0.366000														89			25		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872705	213872705	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:213872705G>A	uc002vem.3	-	7	1129	c.960C>T	c.(958-960)gcC>gcT	p.A320A	IKZF2_uc010fuu.3_Silent_p.A175A|IKZF2_uc002vej.3_Silent_p.A267A|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Silent_p.A246A|IKZF2_uc002vel.3_Silent_p.A241A|IKZF2_uc010fuw.3_Silent_p.A94A|IKZF2_uc010fux.3_Silent_p.A94A|IKZF2_uc010fuy.3_Silent_p.A248A|IKZF2_uc002ven.3_Silent_p.A294A|IKZF2_uc002vei.3_Silent_p.A98A	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CATTGTTGATGGCTTGGTCCA	0.483000														67			18		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155295167	155295167	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:155295167C>T	uc002tyt.4	+	9	1563	c.1459C>T	c.(1459-1461)Ctc>Ttc	p.L487F	GALNT13_uc002tyr.4_Missense_Mutation_p.L487F|GALNT13_uc010fod.3_Splice_Site_p.T219_splice|AX746678_uc002tyu.1_Intron	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	487	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGTTTCTAGACTCAATGGACC	0.318000														90			35		0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118145875	118145875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:118145875C>T	uc004eqw.3	+	7	1781	c.1750C>T	c.(1750-1752)Cgt>Tgt	p.R584C	LONRF3_uc004eqx.3_Missense_Mutation_p.R543C|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Missense_Mutation_p.R328C	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	584	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CCTGATGATTCGTAGATGCAT	0.493000														37			51		0	0	1	0	0
ANXA2	302	broad.mit.edu	37	9	33624621	33624621	+	Missense_Mutation	SNP	C	T	T	rs150567876	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:33624621C>T	uc010mjx.3	+	0	399	c.350C>T	c.(349-351)tCc>tTc	p.S117F	DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank	NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	117					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	CTAAAAGCTTCCATGAAGGGG	0.498000											OREG0019140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			17		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346900	48346900	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:48346900G>A	uc010rhv.2	+	0	408	c.408G>A	c.(406-408)gaG>gaA	p.E136E		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GAGGTGTTGAGATCATTCTGC	0.483000														204			22		0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67513729	67513729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:67513729C>T	uc002jij.3	+	3	509	c.221C>T	c.(220-222)cCc>cTc	p.P74L	MAP2K6_uc002jii.3_Missense_Mutation_p.P74L|MAP2K6_uc002jik.3_Missense_Mutation_p.P104L	NM_002758	NP_002749	P52564	MP2K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA.	74	Protein kinase.				DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CGGCACGTGCCCAGCGGGCAG	0.507000														33			14		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278658	36278658	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36278658C>T	uc002obs.2	+	20	2852	c.2708C>T	c.(2707-2709)tCc>tTc	p.S903F	ARHGAP33_uc002obt.2_Missense_Mutation_p.S900F|ARHGAP33_uc002obv.1_Missense_Mutation_p.S652F	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1064					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CAGCCCAGTTCCCCAGCCCCA	0.667000														84			10		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3658802	3658803	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:3658802_3658803GG>AA	uc003smx.3	+	1	528_529	c.389_390GG>AA	c.(388-390)ggg>gAA	p.G130E		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	130	Ig-like C2-type 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTTGCCGAAGGGAGCTGGCCTT	0.475000														53			9		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9100069	9100069	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:9100069C>T	uc003brf.1	-	6	1565	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	SRGAP3_uc003brg.1_Missense_Mutation_p.E297K|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brj.1_Missense_Mutation_p.E157K	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	297					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.H296H(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCAGCCCTTCGTGGCGAGAG	0.552000			T	RAF1	pilocytic astrocytoma									116			54		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606170	21606170	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:21606170G>A	uc003cce.3	-	2	580	c.172C>T	c.(172-174)Ccg>Tcg	p.P58S	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	58						nucleus	nucleic acid binding|zinc ion binding	p.P58T(2)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTCTGAATCGGGTCCATCTGT	0.358000														69			18		0	0	1	0	0
ANKRD19P	138649	broad.mit.edu	37	9	95646896	95646896	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:95646896C>T	uc004asr.4	+	9		c.2024C>T								Homo sapiens ankyrin repeat domain 19, pseudogene (ANKRD19P), non-coding RNA.																		GACCTGCTTTCACAACTGCAG	0.607000														125			44		0	0	1	0	0
SERGEF	26297	broad.mit.edu	37	11	18026017	18026017	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:18026017G>A	uc001mnm.3	-	3	498	c.418C>T	c.(418-420)Cga>Tga	p.R140*	SERGEF_uc009yhd.3_Non-coding_Transcript|SERGEF_uc001mnn.3_Nonsense_Mutation_p.R140*|SERGEF_uc010rcz.1_Nonsense_Mutation_p.R26*	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN	Homo sapiens secretion regulating guanine nucleotide exchange factor (SERGEF), mRNA.	140					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	Ran guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						ACACATCTTCGAGGTCCATGA	0.418000														22			9		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134916263	134916263	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:134916263G>A	uc001llw.3	+	13	2478	c.2478G>A	c.(2476-2478)agG>agA	p.R826R	GPR123_uc001llx.4_Silent_p.R106R			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	106						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TGACCGCCAGGAACATCTACA	0.622000														28			5		0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154146656	154146656	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:154146656G>A	uc003faa.3	-	0	849	c.749C>T	c.(748-750)tCc>tTc	p.S250F		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	250						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGGGGACAGGGAAACCACTCT	0.652000														54			9		0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36714235	36714235	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:36714235G>A	uc003omr.1	-	15	1205	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	CPNE5_uc003omp.1_Missense_Mutation_p.P88S|CPNE5_uc010jwn.1_Missense_Mutation_p.P30S|CPNE5_uc003omq.1_Missense_Mutation_p.P30S	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	380	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCCAGGGCAGGGAACATCTTG	0.627000														86			17		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72351362	72351362	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72351362G>A	uc002jkm.4	+	19	3046	c.2908G>A	c.(2908-2910)Ggt>Agt	p.G970S		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	970					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCCCAACCCAGGTGGTGGTTC	0.667000														77			16		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7173259	7173259	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7173259C>T	uc001qsj.3	+	9	1575	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	C1S_uc001qsk.3_Missense_Mutation_p.R286C|C1S_uc001qsl.3_Missense_Mutation_p.R286C|C1S_uc009zfr.3_Missense_Mutation_p.R119C|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	286	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CTGGAAACTTCGCTATCATGG	0.433000														65			22		0	0	1	0	0
CELA1	1990	broad.mit.edu	37	12	51736476	51736476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51736476G>A	uc001ryi.1	-	3	250	c.209C>T	c.(208-210)aCt>aTt	p.T70I		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 1 (CELA1), mRNA.	70	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CACGCGGAAAGTCTTCTGGCT	0.493000														37			11		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140794788	140794788	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140794788C>T	uc003lkl.2	+	0	2046	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Silent_p.F682F|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	680					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)			TCGGCAGCTTCGAGTCTCCAG	0.657000														137			57		0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81065942	81065942	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81065942C>T	uc001kaf.2	+	21	3081	c.2509C>T	c.(2509-2511)Cct>Tct	p.P837S	ZMIZ1_uc001kag.2_Missense_Mutation_p.P713S|ZMIZ1_uc010qlq.1_5'UTR	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	837					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAAGGACGACCCTGATGGCAT	0.612000														41			18		0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79363967	79363967	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:79363967C>T	uc002soa.1	-	3		c.347G>A			REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript					Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds.																		TGGTGCCACTCTCTTTAATCA	0.522000														31			17		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221500	59221500	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:59221500G>A	uc010dps.1	+	10	2130	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K	CDH20_uc002lif.2_Missense_Mutation_p.E654K	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	660					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)				AAACATCCACGAGAACATCGT	0.612000														162			51		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103420	168103420	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:168103420G>A	uc002udx.3	+	8	5607	c.5518G>A	c.(5518-5520)Gat>Aat	p.D1840N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D1665N|XIRP2_uc010fpq.3_Missense_Mutation_p.D1618N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1665					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TATAAAAGGTGATTTGACATC	0.388000														107			37		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45279062	45279062	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:45279062C>T	uc003bfn.3	-	12	1651	c.1500G>A	c.(1498-1500)acG>acA	p.T500T	PHF21B_uc011aqk.2_Silent_p.T446T|PHF21B_uc003bfm.3_Silent_p.T296T|PHF21B_uc011aql.2_Silent_p.T458T	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	500							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GGCTAGTGGTCGTCATGGTGA	0.701000														94			27		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20492235	20492235	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20492235C>T	uc010bwe.3	+	12	1740	c.1501C>T	c.(1501-1503)Cga>Tga	p.R501*	ACSM2A_uc010vax.1_Nonsense_Mutation_p.R422*|ACSM2A_uc002dhf.4_Nonsense_Mutation_p.R501*|ACSM2A_uc002dhg.4_Nonsense_Mutation_p.R501*|ACSM2A_uc010vay.2_Nonsense_Mutation_p.R422*|ACSM2A_uc002dhh.4_Nonsense_Mutation_p.R131*	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	501					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGACCCCGTCCGAGGAGAGGT	0.562000														39			13		0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110495667	110495667	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:110495667G>A	uc004epc.2	-	4	758	c.567C>T	c.(565-567)ttC>ttT	p.F189F	CAPN6_uc011msu.2_Intron	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	189	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ATGTGCCCGTGAAGTCCACAA	0.423000														26			32		0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56098199	56098199	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:56098199G>A	uc002rzi.3	-	9	1561	c.1060C>T	c.(1060-1062)Cat>Tat	p.H354Y	EFEMP1_uc002rzj.3_Missense_Mutation_p.H354Y|EFEMP1_uc010ypc.2_Missense_Mutation_p.H216Y	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	354	EGF-like 6; calcium-binding (Potential).|Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAGCCGCCATGATAATTCCAA	0.378000														65			21		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39114774	39114774	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39114774C>T	uc003xmt.4	+	18	2319	c.2074C>T	c.(2074-2076)Cct>Tct	p.P692S	ADAM32_uc011lch.2_Missense_Mutation_p.P593S|ADAM32_uc003xmu.4_Missense_Mutation_p.P586S|ADAM32_uc003xmv.3_Missense_Mutation_p.P116S	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	692					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.P691S(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CATTGCTCTTCCTATTCTCAT	0.378000														75			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542591	179542591	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179542591C>T	uc021vsy.1	-	142	30541	c.30316G>A	c.(30316-30318)Gaa>Aaa	p.E10106K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6767K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11033	Glu-rich.						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)			AATAGAACTTCCTCTTCCTGA	0.393000														88			49		0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6012345	6012345	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:6012345G>A	uc003zjr.3	-	0	3296	c.3263C>T	c.(3262-3264)tCa>tTa	p.S1088L	RANBP6_uc011lmf.2_Missense_Mutation_p.S736L|RANBP6_uc003zjs.3_3'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	1088					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCAAGTTGTGATACACATTC	0.353000														58			13		0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50740495	50740495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:50740495G>A	uc003paf.3	+	7	1789	c.1277G>A	c.(1276-1278)gGa>gAa	p.G426E	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	426							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCTGGCCAAGGACATGCCAAC	0.488000														44			18		0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	168910679	168910679	+	Missense_Mutation	SNP	G	C	C	rs144833047		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:168910679G>C	uc003qwr.2	+	1	389	c.169G>C	c.(169-171)Gga>Cga	p.G57R	SMOC2_uc003qws.2_Missense_Mutation_p.G57R	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	57	Kazal-like.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CGCATCTGACGGAAGGACCTT	0.463000														37			38		0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67703945	67703945	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:67703945C>T	uc001stn.2	+	12	3646	c.3209C>T	c.(3208-3210)cCa>cTa	p.P1070L	CAND1_uc001sto.2_Missense_Mutation_p.P580L	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	1070					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAAATGGGTCCATTTAAACAT	0.353000														152			21		0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25243010	25243010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:25243010C>T	uc001rgh.3	+	12	1579	c.485C>T	c.(484-486)tCt>tTt	p.S162F	LRMP_uc010sja.2_Missense_Mutation_p.S162F|LRMP_uc010sjc.2_Missense_Mutation_p.S162F|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Missense_Mutation_p.S109F|LRMP_uc010sjd.2_Missense_Mutation_p.S109F	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	218					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)					CTCAGATTATCTTTGGGATTT	0.393000														114			47		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33475234	33475234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:33475234C>T	uc001iwx.4	-	13	2768	c.2245G>A	c.(2245-2247)Gat>Aat	p.D749N	NRP1_uc001iwv.4_Missense_Mutation_p.D749N|NRP1_uc001iwy.4_Missense_Mutation_p.D742N|NRP1_uc009xlz.3_Missense_Mutation_p.D743N|NRP1_uc001iww.4_Missense_Mutation_p.D561N	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	749	MAM.			D -> H (in Ref. 2; AAC12921).	axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	ACCAGCTGATCGTACTCCTCT	0.542000														50			20		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181480566	181480566	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181480566G>A	uc009wxt.3	+	2	627	c.432G>A	c.(430-432)gtG>gtA	p.V144V	CACNA1E_uc001gow.3_Silent_p.V144V|CACNA1E_uc009wxs.3_Silent_p.V144V|CACNA1E_uc009wxr.3_Silent_p.V51V	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	144					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						TCAAAATTGTGGCCCTGGGGT	0.488000														172			77		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582436	179582436	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179582436G>A	uc021vsy.1	-	83	21658	c.21433C>T	c.(21433-21435)Ctt>Ttt	p.L7145F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L3806F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8072	Ig-like 53.			D -> H (in Ref. 1; CAA62189).			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)			GACACTTGAAGAGGTTCTGAG	0.408000														27			4		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47236521	47236521	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:47236521C>T	uc002ion.2	+	5	860	c.801C>T	c.(799-801)ttC>ttT	p.F267F	B4GALNT2_uc010wlt.1_Silent_p.F181F|B4GALNT2_uc010wlu.1_Silent_p.F207F	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	267					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGTTGAAGTTCATTCTTCAGC	0.532000														176			71		0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8790821	8790821	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:8790821G>A	uc003srv.3	+	2	1149	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	NXPH1_uc011jxh.2_5'UTR	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	80	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGACACCCCAGAACCTTATTC	0.507000														40			30		0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707821	50707821	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:50707821G>A	uc002egk.2	-	3	620	c.447C>T	c.(445-447)ttC>ttT	p.F149F	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	149	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TCTCCTCAGCGAAGTTCCCAG	0.617000														41			7		0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374623	8374623	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8374623C>T	uc001qui.2	-	6	1749	c.1190G>A	c.(1189-1191)cGg>cAg	p.R397Q	FAM90A1_uc001quh.2_Missense_Mutation_p.R397Q	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	397							nucleic acid binding|zinc ion binding	p.R397W(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TTCCAGTCTCCGAAAGAGCAC	0.637000														31			7		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76573651	76573651	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:76573651C>T	uc002fex.1	+	18	3404	c.3265C>T	c.(3265-3267)Caa>Taa	p.Q1089*	CNTNAP4_uc002feu.1_Nonsense_Mutation_p.Q1085*|CNTNAP4_uc002fev.1_Nonsense_Mutation_p.Q950*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.Q1013*	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1086	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AAATAAATATCAAGAGCCTGA	0.343000														40			22		0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21268095	21268095	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:21268095G>A	uc001bec.3	-	8	1640	c.1384C>T	c.(1384-1386)Ctt>Ttt	p.L462F	EIF4G3_uc010odi.2_Missense_Mutation_p.L66F|EIF4G3_uc010odj.2_Missense_Mutation_p.L461F|EIF4G3_uc009vpz.3_Intron|EIF4G3_uc001bef.3_Missense_Mutation_p.L461F|EIF4G3_uc001bee.3_Missense_Mutation_p.L468F|EIF4G3_uc001beg.3_Missense_Mutation_p.L461F|EIF4G3_uc010odk.2_Missense_Mutation_p.L462F|EIF4G3_uc001beh.3_Missense_Mutation_p.L473F	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	462					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCTTCACTAAGGCAAGTTCTT	0.438000														230			65		0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53190843	53190843	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:53190843T>G	uc002ehb.3	+	0	1006	c.842T>G	c.(841-843)aTa>aGa	p.I281R	CHD9_uc002egy.3_Missense_Mutation_p.I281R|CHD9_uc002egz.1_Missense_Mutation_p.I281R|CHD9_uc002ehc.3_Missense_Mutation_p.I281R	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	281	Ser-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGTAATCATATATCACCAAAC	0.343000														78			36		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95718849	95718849	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95718849C>T	uc009xuj.2	-	0	2824	c.2305G>A	c.(2305-2307)Gaa>Aaa	p.E769K						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		ATCTTCTCTTCCTCAGTCATA	0.532000														38			18		0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131220670	131220670	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:131220670C>T	uc003qch.2	-	7	1379	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	EPB41L2_uc010kfl.2_Silent_p.K399K|EPB41L2_uc003qcg.1_Silent_p.K399K|EPB41L2_uc003qci.3_Silent_p.K399K|EPB41L2_uc011eby.2_Silent_p.K399K|EPB41L2_uc010kfk.2_Silent_p.K399K	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	399	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGGAAAGCCTCTTTGCATTTT	0.418000														63			34		0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92848455	92848455	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92848455C>T	uc011khy.2	-	2	481	c.458G>A	c.(457-459)gGa>gAa	p.G153E	HEPACAM2_uc003uml.3_Missense_Mutation_p.G118E|HEPACAM2_uc010lff.3_Missense_Mutation_p.G118E|HEPACAM2_uc003umm.3_Missense_Mutation_p.G130E	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	130	Ig-like C2-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AGATAGAGTTCCATTTCCCTG	0.483000														50			17		0	0	1	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36361338	36361338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36361338C>T	uc021wdj.1	+	1	179	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	CTNNBL1_uc021wdi.1_Missense_Mutation_p.R3W	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	30					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GAAGATGCGTCGGAAACAAAC	0.478000														62			20		0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36939451	36939451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:36939451C>T	uc001caw.2	-	4	983	c.399G>A	c.(397-399)atG>atA	p.M133I	CSF3R_uc001cav.2_Missense_Mutation_p.M133I|CSF3R_uc001cax.2_Missense_Mutation_p.M133I	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	133	Fibronectin type-III 1.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGTGAGGTTCATGAGGCAGG	0.592000														58			22		0	0	1	0	0
CSN1S1	1446	broad.mit.edu	37	4	70810661	70810661	+	Missense_Mutation	SNP	G	A	A	rs149927680	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:70810661G>A	uc003hep.1	+	14	545	c.496G>A	c.(496-498)Gac>Aac	p.D166N	CSN1S1_uc003heq.1_Missense_Mutation_p.D157N|CSN1S1_uc003her.1_Missense_Mutation_p.D158N	NM_001890	NP_001881	P47710	CASA1_HUMAN	Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA.	166						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						ACCGTTTTCCGACATCTCCAA	0.418000														224			15		0	0	1	0	0
AMICA1	120425	broad.mit.edu	37	11	118071269	118071269	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118071269G>A	uc001psk.2	-	6	1005	c.831C>T	c.(829-831)atC>atT	p.I277I	AMICA1_uc001psg.2_Silent_p.I87I|AMICA1_uc001psh.2_Silent_p.I238I|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Silent_p.I267I|AMICA1_uc010rxw.1_Silent_p.I238I|AMICA1_uc010rxx.1_Silent_p.I277I|AMICA1_uc001psl.1_Silent_p.I233I	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	277					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TTCCCACAATGATCACCAACT	0.512000														63			29		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106602608	106602608	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106602608C>T	uc001kyi.1	+	1	913	c.686C>T	c.(685-687)tCa>tTa	p.S229L		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	229						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACTGAGAGTTCACTATGGAGG	0.502000														57			15		0	0	1	0	0
CWC27	10283	broad.mit.edu	37	5	64273001	64273001	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:64273001C>T	uc003jtn.1	+	12	1411	c.1192C>T	c.(1192-1194)Caa>Taa	p.Q398*	CWC27_uc010iwt.1_Intron	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	Homo sapiens CWC27 spliceosome-associated protein homolog (S. cerevisiae) (CWC27), mRNA.	398					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TAAACTCACTCAAGCAATTGC	0.333000														50			15		0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93015479	93015479	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:93015479C>T	uc002brc.1	+	0	573	c.101C>T	c.(100-102)aCt>aTt	p.T34I	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	34										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			AACACCAAGACTTCCCCAAGA	0.537000														93			74		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706530	96706530	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:96706530G>A	uc010how.1	+	2	850	c.807G>A	c.(805-807)gaG>gaA	p.E269E	EPHA6_uc003drp.1_Silent_p.E269E	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	174						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						AAATTCGTGAGGTGGGGCCTA	0.448000														283			52		0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2217878	2217878	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:2217878C>T	uc002lvc.1	+	7	1301	c.534C>T	c.(532-534)ccC>ccT	p.P178P	DOT1L_uc002lvb.4_Silent_p.P884P|AX746733_uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Silent_p.P178P	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	884						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)		TCAGCATTCCCCTGGCCAGCG	0.687000														27			6		0	0	1	0	0
SH2D7	646892	broad.mit.edu	37	15	78393515	78393515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:78393515G>A	uc010blb.1	+	4	920	c.920G>A	c.(919-921)gGt>gAt	p.G307D		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	Homo sapiens SH2 domain containing 7 (SH2D7), mRNA.	307										endometrium(2)|kidney(2)|lung(3)	7						CCAGACCAGGGTCCCACAGAG	0.607000														23			5		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207881565	207881565	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207881565G>A	uc001hga.4	+	9	1492	c.1371G>A	c.(1369-1371)tcG>tcA	p.S457S	CR1L_uc001hfz.2_Intron|CR1L_uc001hgb.1_Intron	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	457	Sushi 7.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTATCCTCTCGGGCAATACTG	0.453000														183			40		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62995971	62995971	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62995971C>T	uc001nwr.1	-	1	468	c.468G>A	c.(466-468)atG>atA	p.M156I	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.M156I	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	156					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CTCCCACCATCATTCCAGCCA	0.408000														84			17		0	0	1	0	0
PEX2	5828	broad.mit.edu	37	8	77896041	77896041	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:77896041C>T	uc022awg.1	-	0	374	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	PEX2_uc003yax.3_Missense_Mutation_p.R125Q|PEX2_uc003yay.3_Missense_Mutation_p.R125Q|PEX2_uc022awe.1_Missense_Mutation_p.R125Q|PEX2_uc022awf.1_Missense_Mutation_p.R125Q	NM_001172087	NP_001165558	P28328	PEX2_HUMAN	Homo sapiens peroxisomal biogenesis factor 2 (PEX2), transcript variant 4, mRNA.	125					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						ATGATGGTTTCGAAACAAATC	0.363000														88			35		0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134349893	134349893	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:134349893G>A	uc003qem.1	-	1	1241	c.1070C>T	c.(1069-1071)tCg>tTg	p.S357L		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	357						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GGTCACCAACGAAGCTGCCAT	0.493000														50			23		0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185146729	185146729	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:185146729C>T	uc010hyf.3	+	2	651	c.360C>T	c.(358-360)ttC>ttT	p.F120F	MAP3K13_uc011brt.2_Intron|MAP3K13_uc003fph.4_5'UTR|MAP3K13_uc011bru.2_Intron|MAP3K13_uc003fpi.3_Silent_p.F120F|MAP3K13_uc010hyg.3_5'UTR	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	120					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGATTCAGTTCAGCAGGTCAG	0.488000														63			22		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124348598	124348598	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124348598G>A	uc001lgk.1	+	16	2028	c.1922G>A	c.(1921-1923)aGg>aAg	p.R641K	DMBT1_uc001lgl.1_Missense_Mutation_p.R631K|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.R641K|DMBT1_uc021qag.1_Missense_Mutation_p.R631K|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R641K|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.	641	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGGTCTGCAGGCAGCTGGGC	0.612000														389			36		0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91444808	91444808	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:91444808G>A	uc001xys.2	-	2	451	c.236C>T	c.(235-237)gCc>gTc	p.A79V	RPS6KA5_uc010twi.1_5'UTR|RPS6KA5_uc001xyt.3_Missense_Mutation_p.A79V|RPS6KA5_uc010att.1_Non-coding_Transcript	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	79	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AACTTTCATGGCATACAGCTT	0.363000														52			21		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35144355	35144355	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:35144355C>T	uc003teq.1	-	17	1860	c.753G>A	c.(751-753)caG>caA	p.Q251Q	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		ACGCTAACAACTGCAATGTGT	0.323000														34			9		0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49227976	49227976	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49227976C>T	uc002pki.3	-	8	2566	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q	RASIP1_uc002pkh.3_Missense_Mutation_p.R51Q	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	790	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		ACCTTCACCTCGTTCCATCAG	0.552000														95			27		0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41075531	41075531	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:41075531G>A	uc003ayz.3	+	0	350	c.82G>A	c.(82-84)Gac>Aac	p.D28N	MCHR1_uc003aza.3_Intron	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	28			D -> V.		elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						TACGGAGGAAGACCCCCTTCC	0.652000														35			16		0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6926366	6926366	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6926366G>A	uc001qqv.2	+	6	1284	c.1026G>A	c.(1024-1026)ttG>ttA	p.L342L	CD4_uc010sfj.2_Silent_p.L69L|CD4_uc009zfc.2_Silent_p.L163L|CD4_uc010sfl.2_Silent_p.L69L|CD4_uc010sfk.2_Silent_p.L69L|CD4_uc010sfm.1_Silent_p.L69L	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	342	Ig-like C2-type 3.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				TGCTGAGTTTGAAACTGGAGA	0.567000														21			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067224	9067224	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9067224G>A	uc002mkp.3	-	2	20426	c.20222C>T	c.(20221-20223)cCt>cTt	p.P6741L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6743	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G6740C(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						GCCAAGAGGAGGACCTGTTCG	0.502000														200			68		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64417930	64417930	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64417930G>A	uc021qkw.1	-	14	3561	c.3099C>T	c.(3097-3099)ctC>ctT	p.L1033L	NRXN2_uc021qkx.1_Silent_p.L993L|NRXN2_uc001oas.3_Silent_p.L993L|NRXN2_uc001oaq.3_Silent_p.L700L	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1033	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTTTGAGATCGAGGTTTCGGG	0.632000														137			36		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39581281	39581281	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39581281G>A	uc003xni.3	+	18	2087	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.E654K	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	678					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CTTTTATACTGAAAAAGGCTA	0.299000														71			35		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75230628	75230628	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75230628C>T	uc001xqj.4	+	0	560	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S		NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	146	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCTGGAATCCCCCCCTGAATC	0.612000														41			35		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164783108	164783108	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:164783108G>A	uc003fei.3	-	6	811	c.748C>T	c.(748-750)Cgt>Tgt	p.R250C		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	250	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R250C(4)|p.R250H(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AAATCATGACGAAATCTCTTA	0.343000										HNSCC(35;0.089)				47			27		0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18751216	18751216	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:18751216G>A	uc001mpd.3	-	12	1910	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	PTPN5_uc001mpb.3_Silent_p.I461I|PTPN5_uc001mpc.3_Silent_p.I493I|PTPN5_uc010rdj.2_Silent_p.I437I|PTPN5_uc001mpf.3_Silent_p.I469I|PTPN5_uc001mpe.3_Silent_p.I461I|PTPN5_uc010rdk.2_Silent_p.I438I	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	493	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						TGCAGTGGACGATGATGGGGG	0.746000														25			8		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37120378	37120378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:37120378G>A	uc011cpa.1	-	48	9319	c.9088C>T	c.(9088-9090)Ccg>Tcg	p.P3030S	C5orf42_uc003jko.1_Missense_Mutation_p.P61S|C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Missense_Mutation_p.P1548S|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P2123S	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	3030										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATATAACTCGGTTTGGACATA	0.358000														58			34		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264576	61264576	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61264576C>T	uc010xep.2	+	7	1350	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F	SERPINB13_uc002ljc.3_Silent_p.F385F|SERPINB13_uc002ljd.3_Silent_p.F249F|SERPINB13_uc010xeq.2_Silent_p.F206F|SERPINB13_uc010xer.2_Silent_p.F206F	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	385					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TCCTCTTCTTCGGCAGATTTT	0.423000														97			47		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73442842	73442842	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:73442842C>T	uc004aid.3	-	5	1138	c.894G>A	c.(892-894)ggG>ggA	p.G298G	TRPM3_uc004ahu.3_Silent_p.G128G|TRPM3_uc004ahv.3_Silent_p.G128G|TRPM3_uc004ahw.3_Silent_p.G145G|TRPM3_uc004ahx.3_Silent_p.G145G|TRPM3_uc004ahy.3_Silent_p.G145G|TRPM3_uc004ahz.3_Silent_p.G145G|TRPM3_uc004aia.3_Silent_p.G145G|TRPM3_uc004aib.3_Silent_p.G145G|TRPM3_uc004aic.3_Silent_p.G298G|TRPM3_uc010mor.3_Silent_p.G298G|TRPM3_uc004aie.3_Silent_p.G145G|TRPM3_uc004aif.3_Silent_p.G145G|TRPM3_uc004aig.3_Silent_p.G145G|TRPM3_uc004aii.3_Silent_p.G300G	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	298						integral to membrane	calcium channel activity	p.T298T(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTCCAGTGGTCCCGTTGTCAG	0.483000														116			52		0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154667811	154667811	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:154667811G>A	uc003wlk.3	+	20	2207	c.2078_splice	c.e20+1	p.R693_splice	DPP6_uc003wli.3_Splice_Site_p.R629_splice|DPP6_uc003wlm.3_Splice_Site_p.R631_splice|DPP6_uc011kvq.2_Splice_Site_p.R586_splice	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	693					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGGCCGTGCGGTGAGCACCCG	0.677000														18			4		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78440599	78440599	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:78440599C>T	uc001ozl.4	-	21	3691	c.3228G>A	c.(3226-3228)agG>agA	p.R1076R		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1076					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGAGGCTGATCCTCAGGACAG	0.582000														47			20		0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131189133	131189133	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:131189133C>T	uc003vqw.4	-	8	1872	c.1614G>A	c.(1612-1614)tgG>tgA	p.W538*	PODXL_uc003vqx.4_Nonsense_Mutation_p.W506*	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	538					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GAGGGACGATCCAGCTGTCCC	0.582000														94			23		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38237609	38237609	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:38237609C>T	uc010abx.3	-	5	1867	c.1632G>A	c.(1630-1632)acG>acA	p.T544T	TRPC4_uc010abv.3_Silent_p.T124T|TRPC4_uc001uwt.3_Silent_p.T544T|TRPC4_uc001uws.3_Silent_p.T544T|TRPC4_uc010tey.2_Silent_p.T544T|TRPC4_uc010abw.3_Silent_p.T371T|TRPC4_uc010aby.3_Silent_p.T544T	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	544					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTAACCCTTTCGTTTCTTCAT	0.348000														62			23		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62579893	62579893	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62579893C>T	uc001dab.3	+	34	4744	c.4630C>T	c.(4630-4632)Ctg>Ttg	p.L1544L	INADL_uc009waf.1_Silent_p.L1574L|INADL_uc001daa.2_Silent_p.L1516L|INADL_uc001dad.3_Silent_p.L1241L|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Silent_p.L358L|INADL_uc009wag.3_Silent_p.L328L|INADL_uc010oou.1_Silent_p.L189L	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1544	PDZ 9.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGGCCGGGGCCTGGGCCTGAG	0.537000														46			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140235919	140235919	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140235919G>C	uc003lhx.2	+	0	286	c.286G>C	c.(286-288)Ggg>Cgg	p.G96R	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_Missense_Mutation_p.G96R|PCDHAC2_uc011dad.2_Missense_Mutation_p.G96R	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	112	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGTGCGGGCGGAGCGT	0.562000														196			9		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130833139	130833139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:130833139G>A	uc010fmh.2	-	16	2306	c.1906C>T	c.(1906-1908)Ctt>Ttt	p.L636F		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	636						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTACAACTAAGAGAAAGCTAA	0.323000														30			7		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76468259	76468259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:76468259G>A	uc003yaq.3	+	6	817	c.547G>A	c.(547-549)Gga>Aga	p.G183R	HNF4G_uc003yar.3_Missense_Mutation_p.G220R	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	183					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CTTACTGCTTGGAGCTACAAA	0.289000														65			15		0	0	1	0	0
NPS	594857	broad.mit.edu	37	10	129350866	129350866	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:129350866G>A	uc001ljx.1	+	2	253	c.233G>A	c.(232-234)gGg>gAg	p.G78E		NM_001030013	NP_001025184	P0C0P6	NPS_HUMAN	Homo sapiens neuropeptide S (NPS), transcript variant 1, mRNA.	78					neuropeptide signaling pathway	extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						GTTGGCACAGGGATGAAAAAA	0.413000														148			55		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54185403	54185403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:54185403G>A	uc003pcj.2	+	1	528	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	TINAG_uc003pci.3_Missense_Mutation_p.E128K|TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	128					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TCAACATTATGAAGAGGGATC	0.303000														109			31		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49459684	49459684	+	Missense_Mutation	SNP	C	T	T	rs143814415		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:49459684C>T	uc001jgi.3	-	1	407	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	FRMPD2_uc001jgh.3_Missense_Mutation_p.E17K|FRMPD2_uc001jgj.3_Missense_Mutation_p.E17K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	26	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			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)		GACAGAGCTTCACCCCTGACC	0.572000														53			23		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77387698	77387698	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:77387698C>T	uc002ffc.4	-	9	1965	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	ADAMTS18_uc010chc.1_Missense_Mutation_p.D104N|ADAMTS18_uc002ffe.1_Missense_Mutation_p.D212N	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	516	Disintegrin.				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						GTGTCAGCATCATAAATCTGT	0.428000														121			45		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74536357	74536357	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74536357C>T	uc002axo.3	+	1	447	c.53C>T	c.(52-54)gCc>gTc	p.A18V		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	221							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCCCTGATCGCCTCCCAGAGC	0.557000														159			34		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99509613	99509613	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:99509613C>T	uc003dti.1	+	1	215	c.87C>T	c.(85-87)gcC>gcT	p.A29A	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Silent_p.A29A|COL8A1_uc003dth.1_Silent_p.A29A	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	29	Nonhelical region (NC2).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AGGCTGGTGCCTACTATGGGA	0.562000														42			26		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313098	54313098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54313098G>A	uc002qcj.4	-	2	2035	c.1815C>T	c.(1813-1815)acC>acT	p.T605T	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.T605T|NLRP12_uc002qci.4_Silent_p.T605T|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.T605T	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	605					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.T605I(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCTGCTGCAGGGTGGAGCCGT	0.577000														81			25		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71549884	71549884	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:71549884C>T	uc004agu.3	+	12	1585	c.1280C>T	c.(1279-1281)tCa>tTa	p.S427L	PIP5K1B_uc011lrq.2_Missense_Mutation_p.S427L|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	427						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		ATTGTGTCCTCAATTAGCCAG	0.433000														73			20		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065152	23065152	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:23065152C>T	uc002wsv.3	-	0	1826	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	560					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCTGCAGGCTCCTGGGGGCCA	0.617000														69			34		0	0	1	0	0
FOLR1	2348	broad.mit.edu	37	11	71906994	71906994	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:71906994C>T	uc001orz.2	+	5	823	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S	FOLR1_uc001osa.2_Missense_Mutation_p.P183S|FOLR1_uc001osb.2_Missense_Mutation_p.P183S|FOLR1_uc001osd.2_Missense_Mutation_p.P183S	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	183					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	p.P183H(1)		cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						TTTCTACTTCCCCACACCCAC	0.547000														113			10		0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67219664	67219664	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67219664C>T	uc001olm.3	-	0	537	c.532G>A	c.(532-534)Gac>Aac	p.D178N	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	178						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			ATGACCAGGTCGTACCACCAG	0.662000														74			42		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76455287	76455287	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76455287G>A	uc010dhp.2	-	60	9782	c.9657C>T	c.(9655-9657)ccC>ccT	p.P3219P	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGCCTTGGTAGGGCCTAGCGA	0.647000														158			54		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107125991	107125991	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:107125991G>A	uc001tlt.3	+	13	1602	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.E479K|RFX4_uc001tls.3_Missense_Mutation_p.E488K|RFX4_uc001tlv.3_Missense_Mutation_p.E385K	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	479					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GCGGGCCAATGAGCTCATGCG	0.448000														118			31		0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	78458811	78458811	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:78458811C>T	uc002ffk.3	+	6	999	c.650C>T	c.(649-651)cCc>cTc	p.P217L	WWOX_uc002ffl.3_Intron|WWOX_uc010che.3_Intron|WWOX_uc010vnk.2_Missense_Mutation_p.P104L	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	Homo sapiens WW domain containing oxidoreductase (WWOX), transcript variant 1, mRNA.	217	Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).				Wnt receptor signaling pathway|apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTTGCTCTACCCTGGAGTCTC	0.468000														288			130		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123779149	123779149	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:123779149C>T	uc010nqy.3	-	9	1784	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	ODZ1_uc011muj.2_Missense_Mutation_p.E573K|ODZ1_uc004euj.3_Missense_Mutation_p.E574K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	574	EGF-like 2.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TGTCCTTTCTCGTATTCTCCA	0.498000														83			122		0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21607050	21607050	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:21607050C>T	uc002npw.3	+	3	1708	c.1589C>T	c.(1588-1590)tCa>tTa	p.S530L	ZNF493_uc002npx.3_Missense_Mutation_p.S402L|ZNF493_uc002npy.3_Missense_Mutation_p.S402L|ZNF493_uc021urq.1_Missense_Mutation_p.S402L	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AAACGATCTTCAACCCTTACT	0.348000														58			15		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124856640	124856640	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124856640G>A	uc021rga.1	-	19	2852	c.2735C>T	c.(2734-2736)cCc>cTc	p.P912L	NCOR2_uc021rgb.1_Missense_Mutation_p.P895L|NCOR2_uc010tbb.2_Missense_Mutation_p.P912L|NCOR2_uc010tbc.2_Missense_Mutation_p.P894L|NCOR2_uc021rgc.1_Missense_Mutation_p.P894L|NCOR2_uc010tba.2_Missense_Mutation_p.P912L|NCOR2_uc001ugj.1_Missense_Mutation_p.P912L	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	912					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTGTCCTGGGGGGCGCCCGA	0.706000														66			20		0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178854323	178854323	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:178854323G>A	uc001glz.3	+	11	1355	c.1017G>A	c.(1015-1017)agG>agA	p.R339R	RALGPS2_uc010pnb.2_Silent_p.R339R	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	339					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATGGACATAGGAAGTGCCATA	0.408000														70			12		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135480069	135480069	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:135480069G>A	uc004ezu.1	+	19	8505	c.8214G>A	c.(8212-8214)gtG>gtA	p.V2738V	GPR112_uc010nsb.1_Silent_p.V2533V	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2738					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGGATTCAGTGAATGAACAGA	0.403000														57			29		0	0	1	0	0
SCARF2	91179	broad.mit.edu	37	22	20779730	20779730	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:20779730G>A	uc002zsj.2	-	10	2653	c.2548C>T	c.(2548-2550)Ccg>Tcg	p.P850S	SCARF2_uc002zsk.2_Missense_Mutation_p.P845S	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA.	846					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TTGCGCGGCGGCTTCTGGATG	0.756000														16			5		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57060874	57060874	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:57060874C>T	uc021tiu.1	+	4	2146	c.2019C>T	c.(2017-2019)ccC>ccT	p.P673P	NLRC5_uc021tit.1_Silent_p.P673P|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Silent_p.P478P|NLRC5_uc021tiw.1_Silent_p.P478P|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	673					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ATGGCTGTCCCCTGGAGCCCC	0.597000														47			24		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012823	29012823	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29012823C>T	uc003nlw.2	-	0	130	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T43R(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGAATGATGGCTGTGTTACCC	0.403000														102			48		0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11918354	11918354	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11918354C>T	uc001atj.3	-	1	407	c.305G>A	c.(304-306)cGa>cAa	p.R102Q		NM_002521	NP_002512	P16860	ANFB_HUMAN	Homo sapiens natriuretic peptide B (NPPB), mRNA.	102					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	CTTGGGGCTTCGTGGTGCCCG	0.642000														36			15		0	0	1	0	0
WISP2	8839	broad.mit.edu	37	20	43355771	43355771	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43355771C>T	uc002xmp.3	+	3	723	c.576C>T	c.(574-576)gtC>gtT	p.V192V	LOC79015_uc002xml.1_Intron|WISP2_uc002xmq.3_Missense_Mutation_p.S110F	NM_003881	NP_003872	O76076	WISP2_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 2 (WISP2), mRNA.	192					cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCCCTGGTGTCCCCTGCCCAG	0.632000														107			57		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154861319	154861319	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:154861319C>T	uc010hvr.1	+	12	1487	c.1276C>T	c.(1276-1278)Ctt>Ttt	p.L426F	MME_uc003fab.1_Missense_Mutation_p.L426F|MME_uc003fac.1_Missense_Mutation_p.L426F|MME_uc003fad.1_Missense_Mutation_p.L426F|MME_uc003fae.1_Missense_Mutation_p.L426F	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	426					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TGTGGGGAGGCTTTATGTGGA	0.413000														142			55		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17953868	17953868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17953868C>T	uc001ban.3	+	14	1613	c.1454C>T	c.(1453-1455)tCg>tTg	p.S485L	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.S446L|ARHGEF10L_uc001bao.3_Missense_Mutation_p.S446L|ARHGEF10L_uc001bap.3_Missense_Mutation_p.S446L|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.S243L|ARHGEF10L_uc001baq.3_Missense_Mutation_p.S251L|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.S263L|ARHGEF10L_uc001bar.3_Missense_Mutation_p.S193L|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	485	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GACAGGCTGTCGCTGCAGCTG	0.627000														60			18		0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52374652	52374652	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:52374652C>T	uc003joy.3	+	23	3019	c.2876C>T	c.(2875-2877)tCa>tTa	p.S959L	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.S883L|ITGA2_uc011cqd.2_Intron|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	959					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AATGTTCCTTCAATCGTGCAC	0.373000														42			17		0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846421	72846421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72846421G>A	uc002jlt.1	-	5	1571	c.1415C>T	c.(1414-1416)tCc>tTc	p.S472F	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.S472F	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	472					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CAGGTCGTAGGAGAATTTGAC	0.607000														118			49		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54841886	54841886	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54841886G>A	uc021smr.1	+	25	5868	c.5868G>A	c.(5866-5868)ctG>ctA	p.L1956L	UNC13C_uc021sms.1_Silent_p.L1958L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1958	MHD2.				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)		TATCCAAACTGAAGGTAATAA	0.358000														83			41		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122787290	122787290	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:122787290G>A	uc003vkm.3	-	6	760	c.735C>T	c.(733-735)gcC>gcT	p.A245A	SLC13A1_uc010lks.3_Silent_p.A121A	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	245						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TAGAAGAGTAGGCAATGCACA	0.413000														32			9		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10379965	10379965	+	Silent	SNP	C	T	T	rs141820572		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10379965C>T	uc003bvt.3	-	21	3754	c.3315G>A	c.(3313-3315)ccG>ccA	p.P1105P	ATP2B2_uc003bvv.3_Silent_p.P1060P|ATP2B2_uc003bvw.3_Silent_p.P1060P|ATP2B2_uc003bvs.3_5'Flank|ATP2B2_uc010hdo.3_Silent_p.P810P	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	1105					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCTCCTCCTCCGGGATCTCCT	0.632000														98			18		0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87285691	87285691	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:87285691C>A	uc004aoa.1	+	3	966	c.28C>A	c.(28-30)Ccc>Acc	p.P10T	NTRK2_uc004anv.1_Missense_Mutation_p.P10T|NTRK2_uc004any.1_Missense_Mutation_p.P10T|NTRK2_uc004anz.1_Missense_Mutation_p.P10T|NTRK2_uc004aob.1_Missense_Mutation_p.P10T|NTRK2_uc011lsz.2_Missense_Mutation_p.P10T|NTRK2_uc011lta.2_Missense_Mutation_p.P10T|NTRK2_uc011ltb.1_5'Flank	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	10					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	p.P10H(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GTGGCATGGACCCGCCATGGC	0.677000										TSP Lung(25;0.17)				118			20		2.27731e-05	2.28092e-05	1	1	0
DRD5	1816	broad.mit.edu	37	4	9784685	9784685	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:9784685C>T	uc003gmb.4	+	0	1428	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	344					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TCGACGTCTTCGTCTGGTTCG	0.592000														138			19		0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	49006032	49006032	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49006032C>T	uc003cvb.3	+	6	916	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	ARIH2_uc003cvc.3_Missense_Mutation_p.P202S|ARIH2_uc003cvf.3_Missense_Mutation_p.P120S|ARIH2_uc010hkl.3_Missense_Mutation_p.P202S	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	202					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCCATTGCTTCCCAATGAAGA	0.522000														152			60		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064619	9064619	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9064619G>A	uc002mkp.3	-	2	23031	c.22827C>T	c.(22825-22827)gcC>gcT	p.A7609A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7611	Ser-rich.|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						GGACAGAGGAGGCAGAAATCC	0.478000														65			22		0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1246031	1246031	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1246031C>T	uc003jby.2	+	11	1848	c.1725C>T	c.(1723-1725)tcC>tcT	p.S575S		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	575					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGCTGCTGTCCTTGCTGCCCG	0.716000														22			13		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563283	140563283	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140563283C>T	uc003liv.3	+	0	2304	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	383	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.I382M(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACGATTTCCTCCATCCAGG	0.483000														95			15		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87735635	87735635	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:87735635C>T	uc003hpz.3	+	47	7869	c.7389C>T	c.(7387-7389)gtC>gtT	p.V2463V	PTPN13_uc003hpy.3_Silent_p.V2468V|PTPN13_uc003hqa.3_Silent_p.V2444V|PTPN13_uc003hqb.3_Silent_p.V2272V	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2463	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCTATCAAGTCATCCTTTATG	0.348000														54			6		0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20129011	20129011	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:20129011C>T	uc002zrr.2	+	8	1190	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	ZDHHC8_uc002zrq.3_Silent_p.F361F|ZDHHC8_uc010gsa.3_Silent_p.F167F	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	361						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GGCCGGCTTTCCCCACGGGTC	0.657000														31			9		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57481086	57481086	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57481086G>A	uc009vzx.1	-	11	1234	c.914C>T	c.(913-915)gCt>gTt	p.A305V	DAB1_uc001cyt.1_Missense_Mutation_p.A303V|DAB1_uc001cyq.1_Missense_Mutation_p.A303V|DAB1_uc001cyr.1_Missense_Mutation_p.A219V|DAB1_uc009vzw.1_Missense_Mutation_p.A287V|DAB1_uc001cys.1_Missense_Mutation_p.A305V	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	338					cell differentiation|nervous system development			p.G304G(1)|p.G304S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CGGGAGGACAGCGCCCATTGC	0.582000														25			14		0	0	1	0	0
COBRA1	25920	broad.mit.edu	37	9	140151279	140151279	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140151279C>T	uc004cmm.4	+	3	573	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	Homo sapiens cofactor of BRCA1 (COBRA1), mRNA.	124					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding			endometrium(2)|large_intestine(5)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	16	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		CATGTAGGTTCCGGAGAAAAA	0.582000														19			18		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80048890	80048890	+	Silent	SNP	G	A	A	rs145311183		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:80048890G>A	uc002kdu.3	-	9	1665	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	516	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TGGAATCTCGGAAGCGGTCCA	0.622000														57			19		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175063158	175063158	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175063158C>T	uc001gkl.1	+	6	1470	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	TNN_uc010pmx.1_Nonsense_Mutation_p.R453*	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	453	Fibronectin type-III 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGTCACTGATCGAGTGACTGA	0.433000														48			15		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158585167	158585167	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158585167C>T	uc001fst.1	-	47	6826	c.6627G>A	c.(6625-6627)atG>atA	p.M2209I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2209					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTGACGCTTCATCGCCTGGA	0.483000														120			52		0	0	1	0	0
ADSL	158	broad.mit.edu	37	22	40760984	40760984	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:40760984C>T	uc003ayp.4	+	11	1351	c.1292C>T	c.(1291-1293)gCc>gTc	p.A431V	ADSL_uc003ays.4_Intron	NM_000026	NP_000017	P30566	PUR8_HUMAN	Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA.	431					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CAGGTTGATGCCTACTTCAGT	0.488000														186			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179469545	179469545	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179469545C>T	uc021vsy.1	-	229	46792	c.46567G>A	c.(46567-46569)Gat>Aat	p.D15523N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D9218N|TTN_uc021vta.1_Missense_Mutation_p.D9151N|TTN_uc021vtb.1_Missense_Mutation_p.D9026N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16450	Fibronectin type-III 13.						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)			CCACCATTATCAAGAGGGGCA	0.448000														56			26		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234526842	234526842	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234526842C>T	uc002vup.3	+	0	552	c.489C>T	c.(487-489)ctC>ctT	p.L163L	UGT1A1_uc010zmv.1_Silent_p.L163L	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	166					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ATTTCTCCCTCCCCTCTGTGG	0.453000														270			63		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96264406	96264406	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:96264406C>T	uc001vmk.3	-	10	2051	c.1199G>A	c.(1198-1200)cGa>cAa	p.R400Q	DZIP1_uc001vml.3_Missense_Mutation_p.R400Q	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	400					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.R400*(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			cattgAGGTTCGAAGTTTCTC	0.378000														71			25		0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36884731	36884731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36884731C>T	uc002ody.1	-	4	746	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCTTACATTCATAGGGTTTA	0.413000														73			10		0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102584444	102584444	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:102584444C>T	uc001krk.4	+	8	1578	c.1028C>T	c.(1027-1029)cCt>cTt	p.P343L	PAX2_uc001krm.4_Missense_Mutation_p.P343L|PAX2_uc001krn.4_Missense_Mutation_p.P320L|PAX2_uc001kro.4_Missense_Mutation_p.P320L|PAX2_uc010qps.2_Missense_Mutation_p.P319L|PAX2_uc001krl.4_Missense_Mutation_p.P320L|PAX2_uc001krp.1_Missense_Mutation_p.P316L	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	343					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGTTACCCCCCTCACGTGCCC	0.612000														135			60		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45472270	45472270	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45472270C>T	uc002zea.3	+	3	564	c.395C>T	c.(394-396)gCc>gTc	p.A132V	TRAPPC10_uc010gpo.3_5'UTR|TRAPPC10_uc002zdz.3_Missense_Mutation_p.A132V	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	132					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GAAAATGATGCCAAGAAAAAA	0.368000														119			29		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124439967	124439967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124439967G>A	uc010san.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		GCCTTTTAATGGGGTTCTTGT	0.532000														53			6		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815650	158815650	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158815650G>A	uc001fsz.1	+	4	1044	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	282	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GGAAATAAAGGAAGCATCATC	0.338000														72			24		0	0	1	0	0
SGCG	6445	broad.mit.edu	37	13	23894882	23894882	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:23894882C>T	uc001uom.2	+	6	840	c.685C>T	c.(685-687)Cat>Tat	p.H229Y	SGCG_uc009zzv.2_Missense_Mutation_p.H229Y|SGCG_uc009zzw.2_Missense_Mutation_p.H229Y	NM_000231	NP_000222	Q13326	SGCG_HUMAN	Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA.	229					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		TATTCTTTTTCATAGTAGTGA	0.438000														33			14		0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110399131	110399131	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:110399131G>A	uc001tps.2	-	10	1104	c.939C>T	c.(937-939)gtC>gtT	p.V313V	GIT2_uc001tpq.2_Silent_p.V313V|GIT2_uc001tpv.2_Silent_p.V315V|GIT2_uc001tpu.2_Silent_p.V313V|GIT2_uc001tpt.2_Silent_p.V313V|GIT2_uc010sxu.1_Silent_p.V251V|GIT2_uc001tpw.3_Silent_p.V313V|GIT2_uc010sxv.1_Silent_p.V313V	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	313					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GAAAGGGGACGACCGTTGTCT	0.517000														43			23		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361191	107361191	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107361191G>A	uc011lvp.2	-	0	504	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TATTCCTGCAGAAAGGCAATT	0.448000														194			20		0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241401948	241401948	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241401948C>T	uc002vyw.4	+	2	887	c.666C>T	c.(664-666)tcC>tcT	p.S222S		NM_002081	NP_002072	P35052	GPC1_HUMAN	Homo sapiens glypican 1 (GPC1), mRNA.	222					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CTGCTCGCTCCTTTGTGCAGG	0.711000														36			14		0	0	1	0	0
LCN9	392399	broad.mit.edu	37	9	138556088	138556088	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:138556088C>T	uc004cgk.1	+	1	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	Homo sapiens lipocalin 9 (LCN9), mRNA.	59						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		TGAGGGTCTTCGTCCGGAATA	0.468000														75			18		0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	91994072	91994072	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:91994072G>A	uc004aqo.1	-	17	2708	c.2136C>T	c.(2134-2136)atC>atT	p.I712I	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Silent_p.I712I	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	712					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGTTGATGACGATCTTTGGTT	0.597000														60			8		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113496541	113496541	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113496541G>A	uc022blv.1	+	5	773	c.639G>A	c.(637-639)agG>agA	p.R213R	MUSK_uc022blt.1_Silent_p.R213R|MUSK_uc004bez.2_Silent_p.R223R|MUSK_uc022blu.1_Silent_p.R213R	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	213	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTTTTGCCAGGATCCTGCGGG	0.502000														21			5		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166246007	166246007	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166246007G>A	uc002udc.3	+	26	5981	c.5691G>A	c.(5689-5691)acG>acA	p.T1897T	SCN2A_uc002udd.3_Silent_p.T1897T|SCN2A_uc002ude.3_Silent_p.T1897T|SCN2A_uc021vry.1_Silent_p.T397T	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1897					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGCCCATTACGACCACGTTGA	0.448000														53			28		0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711110	20711110	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20711110G>A	uc010tld.2	+	0	160	c.160G>A	c.(160-162)Gcc>Acc	p.A54T		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A54S(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		GGGAAATGGAGCCATCATCTA	0.448000														86			32		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33985438	33985438	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:33985438G>A	uc001bxm.1	-	68	10887	c.10710C>T	c.(10708-10710)ggC>ggT	p.G3570G	CSMD2_uc001bxn.1_Silent_p.G3426G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3426						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGAGCACGAAGCCCGCAATAA	0.627000														53			15		0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14307236	14307236	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:14307236G>A	uc021war.1	-	0	917	c.917C>T	c.(916-918)cCc>cTc	p.P306L	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.P306L|FLRT3_uc002wow.2_Missense_Mutation_p.P306L	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	306	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GCAATACCAGGGATTGTTGCG	0.438000														77			37		0	0	1	0	0
DEFB112	245915	broad.mit.edu	37	6	50016297	50016297	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:50016297G>A	uc011dws.2	-	0	68	c.68C>T	c.(67-69)tCc>tTc	p.S23F		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	Homo sapiens defensin, beta 112 (DEFB112), mRNA.	23					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					AAATATTGTGGAAGATGTATT	0.333000														60			13		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38620858	38620858	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38620858C>T	uc021wvo.1	-	16	3409	c.3357G>A	c.(3355-3357)tgG>tgA	p.W1119*	SCN5A_uc021wvk.1_Nonsense_Mutation_p.W1118*|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Nonsense_Mutation_p.W1119*|SCN5A_uc021wvn.1_Nonsense_Mutation_p.W1118*|SCN5A_uc021wvp.1_Nonsense_Mutation_p.W1119*|SCN5A_uc021wvq.1_Nonsense_Mutation_p.W1118*|SCN5A_uc021wvr.1_Nonsense_Mutation_p.W1119*|SCN5A_uc021wvs.1_Nonsense_Mutation_p.W1119*|SCN5A_uc021wvt.1_Nonsense_Mutation_p.W1118*|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Nonsense_Mutation_p.W1119*|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Nonsense_Mutation_p.W985*|SCN5A_uc021wvw.1_Nonsense_Mutation_p.W729*	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1119					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTTCCGCTTTCCACTGCTGCC	0.662000														12			3		0	0	1	0	0
GLB1L	79411	broad.mit.edu	37	2	220104315	220104315	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220104315C>T	uc002vkm.3	-	8	1109	c.870G>A	c.(868-870)gaG>gaA	p.E290E	GLB1L_uc002vkk.3_Silent_p.E47E|GLB1L_uc010zkx.2_Silent_p.E200E|GLB1L_uc002vkn.3_Silent_p.E290E	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	290					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGCATGTTCTCTAGTCCTT	0.478000														168			73		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637506	248637506	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248637506C>T	uc001iel.1	+	0	855	c.855C>T	c.(853-855)atC>atT	p.I285I		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			TTTACACCATCTTCACTCCTG	0.502000														322			69		0	0	1	0	0
SKAP2	8935	broad.mit.edu	37	7	26778453	26778453	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:26778453G>A	uc003syc.3	-	5	723	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F	SKAP2_uc011jzi.2_5'UTR|SKAP2_uc011jzj.2_Missense_Mutation_p.L129F	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	144	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GTTTTACTGAGAGCACACCAC	0.363000														75			42		0	0	1	0	0
VGLL1	51442	broad.mit.edu	37	X	135618328	135618328	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:135618328G>A	uc004ezy.3	+	1	319	c.149G>A	c.(148-150)aGc>aAc	p.S50N		NM_016267	NP_057351	Q99990	VGLL1_HUMAN	Homo sapiens vestigial like 1 (Drosophila) (VGLL1), mRNA.	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					AGAGCTCTGAGCAATATCAAG	0.527000														34			22		0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	295177	295177	+	Silent	SNP	G	A	A	rs148086983	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:295177G>A	uc004cpg.3	-	12	1917	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	PPP2R3B_uc004cpf.3_Silent_p.F152F	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	551					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGCGCCTCGAAGAAGGGCC	0.711000														26			13		0	0	1	0	0
GPR27	2850	broad.mit.edu	37	3	71804292	71804292	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:71804292G>A	uc011bge.2	+	0	1092	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A	EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA.	364						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CCACCCAGGCGACCCATCCCT	0.632000														21			9		0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164781252	164781252	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:164781252G>A	uc001gct.3	+	5	1326	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	PBX1_uc010pku.2_Missense_Mutation_p.R288Q|PBX1_uc001gcs.3_Missense_Mutation_p.R288Q|PBX1_uc010pkv.2_Missense_Mutation_p.R205Q|PBX1_uc010pkw.1_Missense_Mutation_p.R178Q	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	288					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GGAAATAAGCGAATCCGGTAC	0.388000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									53			21		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56443363	56443363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56443363C>T	uc010ygg.2	-	0	340	c.315G>A	c.(313-315)atG>atA	p.M105I		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	105	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCTCACCTTTCATCTCGGCTC	0.532000														44			14		0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83549998	83549998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:83549998C>T	uc003kio.1	-	1	519	c.100G>A	c.(100-102)Gga>Aga	p.G34R	EDIL3_uc003kip.1_Missense_Mutation_p.G34R	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	34	EGF-like 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CAGATACCTCCATTTTCACAT	0.393000														46			25		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046420	69046420	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:69046420G>A	uc010fdg.3	+	8	1588	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	ARHGAP25_uc010yql.2_Missense_Mutation_p.R350Q|ARHGAP25_uc002sev.3_Missense_Mutation_p.R383Q|ARHGAP25_uc002sew.3_Missense_Mutation_p.R382Q|ARHGAP25_uc002sex.3_Missense_Mutation_p.R383Q	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	389					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GAAGACCTCCGAATTTCTAGG	0.532000														81			38		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17235031	17235032	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:17235031_17235032GG>AA	uc002dfa.3	-	6	1650_1651	c.1565_1566CC>TT	c.(1564-1566)tcc>tTT	p.S522F		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	522					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCAGGGTGTAGGAGTAGAACTG	0.480000														316			38		0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	39980049	39980049	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:39980049G>A	uc001rmb.2	-	6	2123	c.1697C>T	c.(1696-1698)tCa>tTa	p.S566L		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	566	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ATCATCCACTGAATCAGGGTA	0.388000														46			30		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124345685	124345685	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124345685G>A	uc001lgk.1	+	15	1675	c.1569G>A	c.(1567-1569)tgG>tgA	p.W523*	DMBT1_uc001lgl.1_Nonsense_Mutation_p.W513*|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Nonsense_Mutation_p.W523*|DMBT1_uc021qag.1_Nonsense_Mutation_p.W513*|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Nonsense_Mutation_p.W523*|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.	523	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			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)				ATGACAGCTGGGACACCAATG	0.617000														376			161		0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98110023	98110023	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:98110023C>T	uc011bgw.2	+	0	514	c.514C>T	c.(514-516)Cat>Tat	p.H172Y		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGTGGGTCTCATCAAATCAA	0.388000														103			38		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782698	54782698	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54782698G>A	uc002qfb.3	-	5	1190	c.924C>T	c.(922-924)gcC>gcT	p.A308A	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.A308A|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.A308A|LILRB2_uc010yet.2_Silent_p.A192A|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	308	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCGCTGGGGGCCGAGCACT	0.647000														21			24		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348338	140348338	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140348338C>T	uc003lii.3	+	0	2592	c.1987C>T	c.(1987-1989)Cga>Tga	p.R663*	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Nonsense_Mutation_p.R663*	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	663	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)			CGTGGTGGTCCGAGATAATGG	0.498000														47			13		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433147	140433147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140433147C>T	uc003lik.1	+	0	2169	c.2092C>T	c.(2092-2094)Ctt>Ttt	p.L698F		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	698					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGGTCATCCTTTCCTTTCT	0.373000														174			51		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063965	9063965	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9063965G>A	uc002mkp.3	-	2	23685	c.23481C>T	c.(23479-23481)tcC>tcT	p.S7827S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7829	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A7826A(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						GGGTCAGGGAGGAAGCTAGCT	0.542000														59			24		0	0	1	0	0
SLC25A11	8402	broad.mit.edu	37	17	4841131	4841131	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:4841131G>A	uc002fzo.2	-	7	1107	c.850C>T	c.(850-852)Ccg>Tcg	p.P284S	SLC25A11_uc002fzp.2_Missense_Mutation_p.P280S|SLC25A11_uc021tod.1_Missense_Mutation_p.P273S|SLC25A11_uc021toe.1_Missense_Mutation_p.P233S|RNF167_uc002fzs.3_5'Flank|RNF167_uc002fzw.2_5'Flank|RNF167_uc002fzu.3_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 (SLC25A11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	284					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	p.P284Q(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						GCATAGTACGGCGTGAAGCCC	0.592000														62			21		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119731983	119731983	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:119731983G>A	uc002tln.1	+	4	667	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	MARCO_uc010yyf.1_Missense_Mutation_p.A101T	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	179	Collagen-like.				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						TGAGAAGGGAGCCAAGGGGGC	0.562000														13			5		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121971092	121971092	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:121971092C>T	uc004bkc.2	-	6	1506	c.1050G>A	c.(1048-1050)gaG>gaA	p.E350E		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	350					cell cycle arrest|cell death	cytoplasm	protein binding			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						GTCTCTGTGCCTCCGTGGCAC	0.577000														48			17		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36230589	36230589	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:36230589C>T	uc003gsq.2	-	1	858	c.520G>A	c.(520-522)Gac>Aac	p.D174N	ARAP2_uc003gsr.1_Missense_Mutation_p.D174N	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	174					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						TTAATATTGTCACTACCAAAT	0.363000														47			24		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739229	55739229	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55739229G>A	uc003pcq.3	-	0	1147	c.435C>T	c.(433-435)ctC>ctT	p.L145L	BMP5_uc011dxf.2_Silent_p.L145L	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	145					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGGTATCATGGAGGCTGGCTA	0.453000														107			22		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171251235	171251235	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171251235A>C	uc009wvz.3	+	6	1082	c.946A>C	c.(946-948)Act>Cct	p.T316P	FMO1_uc010pme.2_Missense_Mutation_p.T253P|FMO1_uc001ghl.3_Missense_Mutation_p.T316P|FMO1_uc001ghm.3_Missense_Mutation_p.T316P	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	316					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTTAACAATACTTCAAAGGA	0.418000														101			16		0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586489	143586489	+	Missense_Mutation	SNP	G	A	A	rs146836865		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:143586489G>A	uc003lnm.1	+	2	841	c.212G>A	c.(211-213)gGa>gAa	p.G71E	KCTD16_uc003lnn.1_Missense_Mutation_p.G71E	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	71	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GACTCCAAGGGAAGGTTTTTC	0.463000														28			12		0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121683011	121683011	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:121683011G>A	uc001tzv.3	-	14	2314	c.1485C>T	c.(1483-1485)tcC>tcT	p.S495S	CAMKK2_uc001tzt.3_Silent_p.S495S|CAMKK2_uc001tzu.3_Silent_p.S495S|CAMKK2_uc001tzw.3_Silent_p.S452S|CAMKK2_uc001tzx.3_Silent_p.S495S|CAMKK2_uc001tzy.3_Silent_p.S452S|CAMKK2_uc001tzz.1_Silent_p.S282S|CAMKK2_uc001uaa.1_Silent_p.S495S|CAMKK2_uc001uab.3_Silent_p.S495S|CAMKK2_uc001uac.3_Silent_p.S452S	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	495	Calmodulin-binding (By similarity).				MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGTTCCCAAAGGAGCGTTTAC	0.592000														5			4		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149460541	149460541	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149460541C>T	uc003lrl.3	-	1	291	c.96G>A	c.(94-96)gtG>gtA	p.V32V	CSF1R_uc011dcd.2_5'UTR|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.V32V|CSF1R_uc011dce.1_Silent_p.V32V|CSF1R_uc011dcf.2_Silent_p.V32V	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	32	Ig-like C2-type 1.		V -> G (in dbSNP:rs56048668).		cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.V32G(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTCCTGGCTTCACGACCAGCT	0.602000														13			10		0	0	1	0	0
HAMP	57817	broad.mit.edu	37	19	35773543	35773543	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35773543G>A	uc002nyw.3	+	0	134	c.63G>A	c.(61-63)ctG>ctA	p.L21L		NM_021175	NP_066998	P81172	HEPC_HUMAN	Homo sapiens hepcidin antimicrobial peptide (HAMP), mRNA.	21					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCGCCAGCCTGACCAGTGGCT	0.642000														125			64		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62020413	62020413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62020413G>A	uc002jds.1	-	22	4138	c.4061C>T	c.(4060-4062)gCc>gTc	p.A1354V		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1354					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GATGTCGAAGGCCTGCTTCGT	0.557000														78			45		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526272	176526272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176526272C>T	uc001gkz.3	+	1	1978	c.814C>T	c.(814-816)Ctg>Ttg	p.L272L	PAPPA2_uc001gky.1_Silent_p.L272L|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	272					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCGGGAGCGGCTGCTGCTGCG	0.567000														38			12		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227898144	227898144	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:227898144C>T	uc021vxr.1	-	36	3660	c.3559G>A	c.(3559-3561)Gga>Aga	p.G1187R	COL4A4_uc021vxs.1_Missense_Mutation_p.G1187R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1187	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.G1187E(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTTTAGTTCCTTTCTGACCT	0.512000											OREG0015250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			18		0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6634900	6634900	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6634900G>A	uc001ant.3	+	2	804	c.708G>A	c.(706-708)ggG>ggA	p.G236G	TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Silent_p.G158G	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	236					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTCAGGGGATCTGCATTG	0.622000														55			34		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5011861	5011861	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5011861C>T	uc001lzv.3	+	2	372	c.354C>T	c.(352-354)tcC>tcT	p.S118S		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	118					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGAAGCCATCCGCAGTGAAAG	0.393000														66			34		0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86896591	86896591	+	Silent	SNP	C	T	T	rs147947036	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:86896591C>T	uc001dlr.4	+	3	684	c.522C>T	c.(520-522)ttC>ttT	p.F174F		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	174					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GGGGTGTGTTCGATGAGTATA	0.373000														105			50		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34782179	34782179	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34782179G>A	uc002xfb.3	+	11	1517	c.1346G>A	c.(1345-1347)gGg>gAg	p.G449E	EPB41L1_uc002xeu.3_Missense_Mutation_p.G387E|EPB41L1_uc010zvo.1_Missense_Mutation_p.G449E|EPB41L1_uc002xev.3_Missense_Mutation_p.G449E|EPB41L1_uc002xew.3_Missense_Mutation_p.G352E|EPB41L1_uc002xex.3_Missense_Mutation_p.G418E|EPB41L1_uc002xey.3_Missense_Mutation_p.G376E|EPB41L1_uc002xez.3_Missense_Mutation_p.G387E	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	449					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CATGATGCAGGGCCTGACGGT	0.602000														28			9		0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22112104	22112104	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:22112104C>T	uc004dah.3	+	6	939	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	PHEX_uc011mjr.2_Missense_Mutation_p.R246W|PHEX_uc011mjs.2_Missense_Mutation_p.R149W	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	246					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTTACAGTATCGGGATGCCCT	0.398000														36			69		0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7656797	7656797	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7656797C>G	uc001mfj.4	+	13	1597	c.1209C>G	c.(1207-1209)aaC>aaG	p.N403K	PPFIBP2_uc010rbb.1_Missense_Mutation_p.N326K|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Missense_Mutation_p.N326K|PPFIBP2_uc010rbd.1_Missense_Mutation_p.N245K|PPFIBP2_uc010rbe.2_Missense_Mutation_p.N291K|PPFIBP2_uc001mfl.4_Missense_Mutation_p.N260K|PPFIBP2_uc009yfj.1_Missense_Mutation_p.N47K	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	403					DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGGATGGGAACCAGCCCTTCC	0.418000														87			14		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	78709989	78709989	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:78709989G>A	uc001xum.1	+	1		c.1346G>A						Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.						angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGAAACTCGGAGCCTCGGCT	0.577000														69			20		0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136481641	136481641	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136481641C>T	uc002tuo.3	+	25	3449	c.3079C>T	c.(3079-3081)Cgt>Tgt	p.R1027C	R3HDM1_uc010fni.3_Missense_Mutation_p.R1026C|R3HDM1_uc002tup.3_Missense_Mutation_p.R972C|R3HDM1_uc010zbh.2_Missense_Mutation_p.R775C	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	1027							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCAACCACGTCGTCACCCCCT	0.557000														85			32		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16878310	16878310	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:16878310C>T	uc001ioo.3	-	62	10156	c.10104G>A	c.(10102-10104)atG>atA	p.M3368I		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3368	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGCAGTACTCATAGAAGAAT	0.403000														67			35		0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72945959	72945959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:72945959C>T	uc003xza.3	-	22	2963	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	930						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGTGCCAATTCATTTCTCAGA	0.378000														70			10		0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29840139	29840139	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:29840139G>A	uc001iut.1	-	5	967	c.214C>T	c.(214-216)Cga>Tga	p.R72*	SVIL_uc001iuu.1_Nonsense_Mutation_p.R72*|SVIL_uc009xld.1_Nonsense_Mutation_p.R72*	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	72	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TATTTGGATCGAGTTTGCTTT	0.473000														65			34		0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882034	68882034	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:68882034C>T	uc010yqj.2	+	1	668	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	170						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGTCCATCCGCTGAGACCACG	0.498000														96			46		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1488413	1488413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1488413G>A	uc002qwr.3	+	8	1470	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.A462T|TPO_uc002qwx.3_Missense_Mutation_p.A462T|TPO_uc002qwu.3_Missense_Mutation_p.A462T|TPO_uc010yio.2_Missense_Mutation_p.A289T|TPO_uc010yip.2_Missense_Mutation_p.A462T|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	462					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGACCCGAGGCCTTCCAGCA	0.592000														26			17		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211521331	211521331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:211521331C>T	uc010fur.3	+	30	3741	c.3659C>T	c.(3658-3660)aCc>aTc	p.T1220I	CPS1_uc002vee.4_Missense_Mutation_p.T1214I|CPS1_uc010fus.3_Missense_Mutation_p.T763I	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1214	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			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)		CCCACACAAACCATCAGCCAA	0.403000														69			18		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120332	38120332	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38120332C>T	uc003atr.3	+	6	2040	c.1769C>T	c.(1768-1770)cCc>cTc	p.P590L	TRIOBP_uc003atu.3_Missense_Mutation_p.P418L|TRIOBP_uc003atq.1_Missense_Mutation_p.P590L|TRIOBP_uc003ats.1_Missense_Mutation_p.P418L	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	590					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCTCCTCTCCCAATAGAGCT	0.572000														223			45		0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813028	176813028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176813028C>T	uc003mgk.4	+	2	254	c.150C>T	c.(148-150)ccC>ccT	p.P50P	SLC34A1_uc021yis.1_Silent_p.P50P	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	50					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGCCTTCCCCAGCCTGGGCC	0.682000														67			36		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475910	120475910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:120475910G>A	uc004bjz.3	+	2	1795	c.1504G>A	c.(1504-1506)Gac>Aac	p.D502N	TLR4_uc004bkb.3_Missense_Mutation_p.D302N|TLR4_uc004bka.3_Missense_Mutation_p.D462N	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	502					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GACCTTCCTGGACCTCTCTCA	0.438000														54			27		0	0	1	0	0
EFCAB11	90141	broad.mit.edu	37	14	90397920	90397920	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:90397920G>A	uc001xxt.3	-	4	460	c.375C>T	c.(373-375)ccC>ccT	p.P125P	EFCAB11_uc001xxs.3_Silent_p.P101P|EFCAB11_uc001xxv.1_Non-coding_Transcript|EFCAB11_uc001xxw.2_Silent_p.P101P|EFCAB11_uc001xxx.2_Silent_p.P125P	NM_145231	NP_660274	Q9BUY7	EFC11_HUMAN	Homo sapiens EF-hand calcium binding domain 11 (EFCAB11), mRNA.	125	EF-hand 2.						calcium ion binding			large_intestine(1)|lung(1)	2						CCGGTAATTTGGGAGCCACCT	0.333000														116			54		0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61511339	61511339	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:61511339C>T	uc001nsa.3	+	19	2623	c.2507C>T	c.(2506-2508)tCg>tTg	p.S836L		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	836					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TCCCTGAGCTCGCGCACTGAG	0.672000														255			99		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334447	37334448	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37334447_37334448CC>TT	uc003aqa.4	+	13	2814_2815	c.2597_2598CC>TT	c.(2596-2598)ccc>cTT	p.P866L	CSF2RB_uc003aqc.4_Missense_Mutation_p.P872L	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	866					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CAGGCTGTGCCCCAGGTGCCCG	0.594000														162			43		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170940958	170940958	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:170940958C>T	uc010plz.2	+	7	704	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S	C1orf129_uc001ghg.3_Missense_Mutation_p.P184S|C1orf129_uc009wvy.3_5'UTR	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	184							binding	p.P184H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCATGAAGATCCCTCGATTGT	0.438000														223			81		0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42778721	42778721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:42778721G>A	uc002yzf.1	+	12	1805	c.1701G>A	c.(1699-1701)atG>atA	p.M567I	MX2_uc002yzg.1_Missense_Mutation_p.M290I|MX2_uc010gop.1_Missense_Mutation_p.M49I	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	567					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CAGAAAACATGATCCAACTTC	0.368000														74			26		0	0	1	0	0
POLH	5429	broad.mit.edu	37	6	43550847	43550847	+	Missense_Mutation	SNP	C	T	T	rs113074920		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43550847C>T	uc003ovq.4	+	2	545	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	POLH_uc010jyu.2_Silent_p.F29F|POLH_uc011dvl.1_Non-coding_Transcript	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	Homo sapiens polymerase (DNA directed), eta (POLH), mRNA.	81	UmuC.				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GGCACAAGTTCGTGAGTCCCG	0.413000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum					46			17		0	0	1	0	0
ANP32C	23520	broad.mit.edu	37	4	165118245	165118245	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:165118245C>T	uc011cjk.2	-	0	619	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	207	Asp/Glu-rich (highly acidic).									NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		taaccttcttcatcctcctcg	0.507000														27			12		0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84188309	84188309	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84188309G>A	uc002fhl.4	+	3	661	c.480G>A	c.(478-480)atG>atA	p.M160I	DNAAF1_uc010chi.1_Non-coding_Transcript	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	160					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TCTTGCAAATGAACTTGCTCC	0.463000														80			35		0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438219	23438219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:23438219C>T	uc002zwu.1	+	1	874	c.337C>T	c.(337-339)Ccc>Tcc	p.P113S	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	113						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	p.G112V(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GCTGACGGGCCCCGCTGAGAG	0.692000														122			38		0	0	1	0	0
PRRG1	5638	broad.mit.edu	37	X	37312709	37312709	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:37312709C>T	uc004ddn.3	+	4	745	c.492C>T	c.(490-492)tcC>tcT	p.S164S	PRRG1_uc004ddo.3_Silent_p.S164S|PRRG1_uc022buu.1_Silent_p.S164S|PRRG1_uc022buv.1_Silent_p.S164S	NM_000950	NP_001166961	O14668	TMG1_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 1 (PRRG1), transcript variant 1, mRNA.	164						extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						CTCGCCTGTCCAATTGTGATC	0.542000														27			30		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770944	37770944	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37770944C>T	uc003asq.4	-	2	1417	c.631G>A	c.(631-633)Gac>Aac	p.D211N	ELFN2_uc021wph.1_Missense_Mutation_p.D211N	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	211	LRRCT.					cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGCAGGCGGTCGTAGTTCTTG	0.632000														21			11		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919910	4919910	+	Missense_Mutation	SNP	C	T	T	rs149897413		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4919910C>T	uc001qng.3	+	0	1569	c.703C>T	c.(703-705)Cat>Tat	p.H235Y	KCNA6_uc021qtr.1_Missense_Mutation_p.H235Y	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	235						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.H235Y(2)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CTACACATTTCATCATGGCAT	0.552000										HNSCC(72;0.22)				118			28		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451910	138451910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:138451910G>A	uc003ihe.4	-	0	1720	c.1333C>T	c.(1333-1335)Ctc>Ttc	p.L445F	PCDH18_uc003ihf.4_Missense_Mutation_p.L438F|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.L225F|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	445	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACTGTAGAGAGACTGGGTGTC	0.363000														124			53		0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68912536	68912536	+	Silent	SNP	G	A	A	rs146357166	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:68912536G>A	uc001dei.1	-	2	156	c.102C>T	c.(100-102)atC>atT	p.I34I		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	34					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GCCAGAGGGGGATCCTGCCTG	0.542000														68			21		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577764	9577764	+	Missense_Mutation	SNP	C	T	T	rs139799240	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9577764C>T	uc002mlp.1	-	9	2069	c.1859G>A	c.(1858-1860)cGa>cAa	p.R620Q	ZNF560_uc010dwr.1_Missense_Mutation_p.R514Q	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGTGTGTCTTCGTAAATGTTT	0.393000														119			46		0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35300245	35300245	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:35300245C>T	uc002hnh.2	+	4	1761	c.1038C>T	c.(1036-1038)atC>atT	p.I346I		NM_005568	NP_005559	P48742	LHX1_HUMAN	Homo sapiens LIM homeobox 1 (LHX1), mRNA.	346					S-shaped body morphogenesis|cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				TTACCGACATCCTGGCGCACC	0.741000														6			6		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104948865	104948865	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:104948865G>A	uc003yls.3	+	10	2037	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q	RIMS2_uc003ylp.3_Missense_Mutation_p.R821Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R613Q|RIMS2_uc003ylq.3_Missense_Mutation_p.R613Q|RIMS2_uc003ylr.3_Missense_Mutation_p.R660Q|RIMS2_uc003ylt.3_Missense_Mutation_p.R206Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	883					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.R613Q(3)|p.R888Q(3)|p.R599Q(3)		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)			CCAGTCCACCGAAGAGAATTT	0.388000										HNSCC(12;0.0054)				123			36		0	0	1	0	0
RHBDL3	162494	broad.mit.edu	37	17	30648242	30648243	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:30648242_30648243CC>TT	uc010csx.1	+	7	1122_1123	c.1108_1109CC>TT	c.(1108-1110)ccc>TTc	p.P370F	RHBDL3_uc002hhe.1_Missense_Mutation_p.P404S|RHBDL3_uc010csw.1_Missense_Mutation_p.P396S|RHBDL3_uc010csy.1_Missense_Mutation_p.P306S|RHBDL3_uc002hhf.1_Missense_Mutation_p.P306S			P58872	RHBL3_HUMAN	Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA.	0					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TGCCGCCTCCCCCCTGAGGGCT	0.599000														19			20		0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20443765	20443765	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20443765C>T	uc010tkx.2	+	0	88	c.88C>T	c.(88-90)Cat>Tat	p.H30Y		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGAGACAAATCATTCTCGGGT	0.388000														107			56		0	0	1	0	0
AK302694	0	broad.mit.edu	37	10	31001487	31001487	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:31001487G>A	uc010qdx.1	+	9	1471	c.929_splice	c.e9-1	p.G310_splice						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		GTAACTACAGGAAAAAAATCT	0.443000														40			17		0	0	1	0	0
C6orf223	221416	broad.mit.edu	37	6	43968437	43968437	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43968437G>A	uc003own.3	+	1	101	c.81_splice	c.e1+1	p.R27_splice	AK024736_uc003owm.1_Non-coding_Transcript|C6orf223_uc003owo.3_Splice_Site_p.R27_splice	NM_153246	NP_694978	Q8N319	CF223_HUMAN	Homo sapiens chromosome 6 open reading frame 223 (C6orf223), transcript variant 1, mRNA.	27										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			TTCTGCGGAGGGTGAGACTGA	0.632000														8			3		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155340754	155340754	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155340754G>A	uc009wqq.3	-	10	6848	c.6368C>T	c.(6367-6369)tCc>tTc	p.S2123F	ASH1L_uc001fkt.3_Missense_Mutation_p.S2118F	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2123	AWS.				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	p.P2123S(1)		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)			AGTGTTGGGGGAACACTCAGC	0.393000														50			20		0	0	1	0	0
DEGS2	123099	broad.mit.edu	37	14	100615658	100615658	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:100615658G>A	uc001ygx.2	-	1	560	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA.	158					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				AGCAGCTTGCGGGCGGGTGTG	0.662000														35			17		0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134085246	134085246	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:134085246G>A	uc003eqf.2	-	3	1356	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L	AMOTL2_uc003eqg.1_Silent_p.L355L|AMOTL2_uc003eqh.1_Silent_p.L355L|AMOTL2_uc003eqe.1_5'UTR	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	355										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGGCCTCAGAGAGCCGCTGGA	0.577000														102			8		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501770	140501770	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140501770C>A	uc003lip.1	+	0	190	c.190C>A	c.(190-192)Cgg>Agg	p.R64R		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	64	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGTCAGCCCGGGTGCTGTC	0.567000														68			22		7.41877e-09	7.44158e-09	1	1	0
C20orf26	26074	broad.mit.edu	37	20	20144725	20144725	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:20144725G>A	uc002wru.3	+	10	1172	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E	C20orf26_uc010gcw.2_Missense_Mutation_p.G307E|C20orf26_uc010zse.2_Missense_Mutation_p.G353E|C20orf26_uc010zsf.1_Missense_Mutation_p.G353E	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	353										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)		ATCTCCACTGGATATGCACAG	0.532000														72			17		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084376	53084376	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:53084376C>T	uc003xqz.2	-	4	1201	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.G314R|ST18_uc011lds.1_Missense_Mutation_p.G254R|ST18_uc003xra.2_Missense_Mutation_p.G349R|ST18_uc003xrb.2_Missense_Mutation_p.G349R	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	349						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATTTGTCTTCCACCCATGTCG	0.378000														125			43		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34129929	34129929	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34129929C>T	uc001zhi.3	+	88	11818	c.11748C>T	c.(11746-11748)ttC>ttT	p.F3916F	RYR3_uc010bar.3_Silent_p.F3911F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3916					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGACATGTTCTTGAAACTTA	0.393000														16			11		0	0	1	0	0
DQ586822	0	broad.mit.edu	37	15	84947090	84947090	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:84947090C>T	uc002bke.2	-	0		c.160G>A								Homo sapiens cDNA FLJ34196 fis, clone FCBBF3019437.																		AATGGTACTTCTAAAGGCACC	0.552000														1			3		0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25261739	25261739	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:25261739C>T	uc001rgk.3	-	15	1994	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	CASC1_uc001rgj.3_Missense_Mutation_p.E592K|CASC1_uc001rgm.4_Intron|CASC1_uc001rgl.3_Missense_Mutation_p.E632K|CASC1_uc010sje.2_Missense_Mutation_p.E573K|CASC1_uc010sjf.2_Intron	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	632										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTACATGCTTCAGTAAGGTGT	0.363000														21			8		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14812906	14812906	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14812906C>T	uc003zlm.3	-	16	3613	c.2797G>A	c.(2797-2799)Gaa>Aaa	p.E933K	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	933					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGCTGAGGTTCGCGAGCAATC	0.478000														136			72		0	0	1	0	0
SIX3	6496	broad.mit.edu	37	2	45170038	45170038	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:45170038G>A	uc002run.2	+	0	1002	c.795G>A	c.(793-795)gcG>gcA	p.A265A		NM_005413	NP_005404	O95343	SIX3_HUMAN	Homo sapiens SIX homeobox 3 (SIX3), mRNA.	265	Poly-Ala.				visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCGCCGCGGCGGCCAAGAACA	0.682000														16			12		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028281	45028282	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45028281_45028282GG>AA	uc010ejn.1	-	2	225_226	c.209_210CC>TT	c.(208-210)ccc>cTT	p.P70L	CEACAM20_uc010ejo.1_Missense_Mutation_p.P70L|CEACAM20_uc010ejp.1_Missense_Mutation_p.P70L|CEACAM20_uc010ejq.1_Missense_Mutation_p.P70L	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	70	Ig-like C2-type 1.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTGCAATGGAGGGTTTGGCCAG	0.525000														51			11		0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37366820	37366820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:37366820G>A	uc010ynh.2	-	5	1027	c.470C>T	c.(469-471)gCc>gTc	p.A157V	EIF2AK2_uc010fab.2_Missense_Mutation_p.A157V|EIF2AK2_uc010yng.2_Missense_Mutation_p.A157V|EIF2AK2_uc010fac.3_Missense_Mutation_p.A157V|EIF2AK2_uc010fad.2_Missense_Mutation_p.A157V	NM_002759	NP_002750	P19525	E2AK2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.	157	DRBM 2.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				AAGTTTAGCGGCCAATTGTTT	0.333000														127			38		0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55381392	55381392	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55381392G>A	uc003pcn.3	-	4	556	c.397C>T	c.(397-399)Cac>Tac	p.H133Y	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Missense_Mutation_p.H103Y|HMGCLL1_uc010jzx.3_Missense_Mutation_p.H4Y|HMGCLL1_uc011dxc.2_Intron|HMGCLL1_uc011dxd.2_Intron|HMGCLL1_uc003pcp.3_Intron	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	133							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACTTCAGTGTGATCAGCCATC	0.363000														83			22		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32810233	32810233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:32810233C>T	uc001utx.3	+	42	6230	c.5734C>T	c.(5734-5736)Ctc>Ttc	p.L1912F	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1912					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AATGGAAGCGCTCCTAACCTT	0.388000														50			12		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5941682	5941682	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:5941682G>A	uc001qnm.2	-	4	781	c.709C>T	c.(709-711)Cca>Tca	p.P237S	ANO2_uc021qtt.1_Missense_Mutation_p.P241S	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	242						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGTGTTCTGGAACTCGGGGC	0.507000														50			20		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4693861	4693861	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:4693861C>T	uc003bqc.3	+	10	1260	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	ITPR1_uc021wsi.1_Missense_Mutation_p.R304C|ITPR1_uc021wsj.1_Missense_Mutation_p.R304C|ITPR1_uc011asu.2_Missense_Mutation_p.R304C	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	304	MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CAGCCTTTTCCGTTTCAAGCA	0.522000														19			5		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27456001	27456001	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27456001C>T	uc002rji.3	+	18	3146	c.2984C>T	c.(2983-2985)tCt>tTt	p.S995F	CAD_uc010eyw.3_Missense_Mutation_p.S932F	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	995	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.I994I(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GATGAGATCTCTTTTGAGGTG	0.488000														34			16		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90503026	90503026	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90503026G>A	uc004app.4	+	3	3659	c.3624G>A	c.(3622-3624)agG>agA	p.R1208R		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1208						integral to membrane											AGGCCCACAGGAGGCCCAGAA	0.642000														10			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595094	179595095	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179595094_179595095GG>AA	uc021vsy.1	-	58	14525_14526	c.14300_14301CC>TT	c.(14299-14301)ccc>cTT	p.P4767L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P1428L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5694	Ig-like 28.						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)			CAAAGTAAGGGGGTTCTGAGGT	0.351000														16			6		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81864696	81864696	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:81864696G>A	uc010tvu.2	-	0	229	c.31C>T	c.(31-33)Cac>Tac	p.H11Y	STON2_uc001xvk.1_Missense_Mutation_p.H11Y|STON2_uc010atc.1_Missense_Mutation_p.H11Y	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	11					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TCTGACTGGTGGGTGGCAATC	0.517000														50			18		0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135781419	135781419	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135781419G>A	uc004cca.2	-	14	1780	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	TSC1_uc004ccb.3_Nonsense_Mutation_p.Q515*|TSC1_uc011mcq.1_Nonsense_Mutation_p.Q465*|TSC1_uc011mcr.2_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	516					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.Q516*(4)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GTCTTCCGCTGAGAACCTGGG	0.567000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					39			14		0	0	1	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978416	45978416	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45978416G>A	uc002zfj.1	-	0	228	c.183C>T	c.(181-183)gcC>gcT	p.A61A	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	61	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						TGGGCTCACAGGCCGCCTGGC	0.711000														75			33		0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72110569	72110569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:72110569G>A	uc002fby.3	+	4	666	c.636G>A	c.(634-636)aaG>aaA	p.K212K	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	Homo sapiens haptoglobin-related protein (HPR), mRNA.	212	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	p.S211*(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TACCTTCAAAGAATTATGCAG	0.458000														87			39		0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219411757	219411757	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219411757G>A	uc010fvs.1	-	6	900	c.487C>T	c.(487-489)Ctt>Ttt	p.L163F	USP37_uc002vie.2_Missense_Mutation_p.L163F|USP37_uc010zkf.1_Missense_Mutation_p.L163F|USP37_uc002vif.2_Missense_Mutation_p.L163F|USP37_uc002vig.2_Missense_Mutation_p.L91F|USP37_uc010zkg.2_Missense_Mutation_p.L163F	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	163					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.V162G(1)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GGATTACCAAGAACTTTTCGA	0.368000														104			30		0	0	1	0	0
FGF9	2254	broad.mit.edu	37	13	22275367	22275367	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:22275367C>T	uc001uog.2	+	2	1257	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	140					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GAGAACAGTTCGAAGAAAACT	0.393000														41			17		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457778	5457778	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:5457778C>T	uc003jdm.4	+	11	1247	c.1025C>T	c.(1024-1026)cCt>cTt	p.P342L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	342	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTTCCCCCTCCTCTTCTGTCA	0.463000														275			22		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50847230	50847230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:50847230C>T	uc021vhh.1	-	6	2171	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	NRXN1_uc002rxb.4_Missense_Mutation_p.G89E|NRXN1_uc021vhg.1_Missense_Mutation_p.G457E|NRXN1_uc021vhi.1_Missense_Mutation_p.G453E|NRXN1_uc021vhj.1_Missense_Mutation_p.G413E|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	417	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGGACTGCCTCCAACATAGAA	0.463000														24			11		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234112995	234112995	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234112995G>A	uc010zmo.2	+	24	3265	c.3112G>A	c.(3112-3114)Gag>Aag	p.E1038K	INPP5D_uc010zmp.2_Missense_Mutation_p.E1037K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1067	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)		CAAAGCCCAGGAGGCTGATCG	0.711000														38			17		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4933850	4933850	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:4933850C>T	uc002cyd.1	-	21	4896	c.4806G>A	c.(4804-4806)gcG>gcA	p.A1602A		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1602					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCCCAGAGTCCGCCACGGTCA	0.577000														56			29		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56520206	56520206	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56520206G>A	uc002qmj.3	+	2	495	c.495G>A	c.(493-495)aaG>aaA	p.K165K	NLRP5_uc002qmi.3_Silent_p.K165K	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	165						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GACCAAGCAAGGAAAAAGTGC	0.468000														18			4		0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40566414	40566414	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40566414C>T	uc010bbl.3	+	9	2255	c.1815C>T	c.(1813-1815)tcC>tcT	p.S605S	PAK6_uc010bbm.3_Silent_p.S605S|PAK6_uc001zky.4_Intron|PAK6_uc010bbn.3_Silent_p.S605S|PAK6_uc001zlb.3_Silent_p.S605S	NM_001128628	NP_064553	Q9NQU5	PAK6_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA.	605	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TCAGTGACTCCCCAGTGCAAG	0.572000											OREG0023057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		104			42		0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57317578	57317578	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57317578A>T	uc021qjh.1	+	6	1480	c.1478A>T	c.(1477-1479)aAg>aTg	p.K493M		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	493										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AAGACCAAGAAGAAGTGAGGA	0.602000														16			8		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43897964	43897964	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:43897964C>T	uc001cjk.2	+	35	5209	c.2599C>T	c.(2599-2601)Cct>Tct	p.P867S		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	1766						peroxisome		p.L866L(1)|p.P867H(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTCCATCTCCCTGGCCATGT	0.577000														303			113		0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117021086	117021086	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:117021086C>T	uc003vjb.2	-	8	987	c.924G>A	c.(922-924)atG>atA	p.M308I	ASZ1_uc011kno.1_Missense_Mutation_p.M308I|ASZ1_uc011knp.1_Missense_Mutation_p.M100I	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	308	SAM.				DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CATCTTCCCTCATGGTCAAAA	0.308000														240			48		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5363912	5363912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5363912G>A	uc001map.1	-	0	843	c.843C>T	c.(841-843)ttC>ttT	p.F281F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.F281F	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTAGTGGAGGGAACAGAAAAT	0.378000														65			29		0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36615272	36615272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:36615272C>T	uc021qge.1	-	0	447	c.447G>A	c.(445-447)ggG>ggA	p.G149G	RAG2_uc021qgc.1_Silent_p.G149G|RAG2_uc021qgd.1_Silent_p.G149G|RAG2_uc001mwv.4_Silent_p.G149G|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	149					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CCATACTTTTCCCTCGGCTGT	0.453000									Familial Hemophagocytic Lymphohistiocytosis					79			45		0	0	1	0	0
SENP2	59343	broad.mit.edu	37	3	185318607	185318607	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:185318607C>T	uc003fpn.3	+	4	584	c.413C>T	c.(412-414)aCc>aTc	p.T138I	SENP2_uc011brv.2_Missense_Mutation_p.T128I|SENP2_uc011brw.2_5'UTR	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	138					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GTGACAGTTACCCGAGATCAG	0.363000														202			41		0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100532314	100532314	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:100532314G>A	uc011cej.2	+	12	1878	c.1865G>A	c.(1864-1866)cGa>cAa	p.R622Q	MTTP_uc003hvc.4_Missense_Mutation_p.R595Q	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	595	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ATTGTCCGTCGAGTTCTGAAG	0.398000														85			12		0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18863935	18863935	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:18863935C>T	uc002gut.1	+	4	464	c.423C>T	c.(421-423)tcC>tcT	p.S141S	SLC5A10_uc002gur.1_Silent_p.S85S|SLC5A10_uc002guu.1_Silent_p.S141S|SLC5A10_uc002guv.1_Silent_p.S141S|SLC5A10_uc010vyl.1_Silent_p.S141S	NM_152351	NP_689564	A0PJK1	SC5AA_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 10 (SLC5A10), transcript variant 1, mRNA.	141					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CTGTCCTGTCCCTGCTACTGT	0.587000											OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			39		0	0	1	0	0
TMEM125	128218	broad.mit.edu	37	1	43738463	43738463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:43738463G>A	uc021omm.1	+	0	70	c.70G>A	c.(70-72)Gag>Aag	p.E24K	EBNA1BP2_uc001cio.3_5'Flank|TMEM125_uc021oml.1_Missense_Mutation_p.E24K|TMEM125_uc001cir.3_Missense_Mutation_p.E24K	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	Homo sapiens transmembrane protein 125 (TMEM125), mRNA.	24						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGAGCAGGTGGAGCTGTGGTG	0.721000														8			8		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769648	13769648	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13769648C>T	uc003jfd.2	-	56	9724	c.9682G>A	c.(9682-9684)Gaa>Aaa	p.E3228K	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3228	Stalk (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)					AGCTCCTTTTCTTTCGCTTCC	0.433000									Kartagener syndrome					149			65		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70501251	70501251	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:70501251C>T	uc003xyg.2	+	6	1170	c.609C>T	c.(607-609)ttC>ttT	p.F203F	SULF1_uc010lza.1_Silent_p.F203F|SULF1_uc003xyd.2_Silent_p.F203F|SULF1_uc003xye.2_Silent_p.F203F|SULF1_uc003xyf.2_Silent_p.F203F	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	203					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)			TTAATTACTTCAAAATGTCTA	0.433000														71			20		0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242383356	242383356	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:242383356G>A	uc001hzn.2	-	5	896	c.669C>T	c.(667-669)ttC>ttT	p.F223F	PLD5_uc021pll.1_Silent_p.F131F|PLD5_uc001hzl.4_Silent_p.F161F|PLD5_uc001hzm.4_Silent_p.F15F|PLD5_uc001hzo.2_Silent_p.F131F	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	223	PLD phosphodiesterase 1.					integral to membrane	catalytic activity	p.F223L(1)|p.F131L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CCACGATCCAGAAGGAGGACT	0.522000														62			8		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433848	69433848	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69433848C>T	uc021xov.1	-	0	398	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	119					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E119K(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TCAGAATATTCCCAACACAAT	0.294000														140			37		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186045650	186045650	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:186045650C>T	uc001grq.1	+	53	8610	c.8381C>T	c.(8380-8382)cCc>cTc	p.P2794L	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2794	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCAACAATCCCATTTCTCTT	0.433000														67			33		0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15874868	15874868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:15874868C>T	uc001aws.3	+	6	1088	c.968C>T	c.(967-969)gCc>gTc	p.A323V	DNAJC16_uc001awr.1_Missense_Mutation_p.A323V|DNAJC16_uc001awt.3_Missense_Mutation_p.A11V	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	323					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AATATCTACGCCCCTACCCTC	0.413000														57			17		0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227216844	227216844	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:227216844G>A	uc001hqr.3	-	28	4784	c.3841C>T	c.(3841-3843)Cct>Tct	p.P1281S	CDC42BPA_uc001hqq.3_Missense_Mutation_p.P580S|CDC42BPA_uc001hqs.3_Missense_Mutation_p.P1200S|CDC42BPA_uc009xes.3_Missense_Mutation_p.P1253S|CDC42BPA_uc010pvs.2_Missense_Mutation_p.P1261S|CDC42BPA_uc001hqp.3_Missense_Mutation_p.P437S|CDC42BPA_uc001hqt.2_Missense_Mutation_p.P159S|CDC42BPA_uc001hqu.1_Missense_Mutation_p.P488S	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	1294	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.V1280V(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GCTGACATAGGAAAAAGTCGT	0.433000														53			12		0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71472148	71472148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71472148C>T	uc003hfl.3	+	12	1146	c.1045C>T	c.(1045-1047)Ccc>Tcc	p.P349S		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	349					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AGAACCTGCTCCCCACGCAGG	0.592000														40			7		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287329	16287329	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:16287329C>T	uc010gqp.2	-	0	609	c.557G>A	c.(556-558)tGg>tAg	p.W186*	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_Nonsense_Mutation_p.W21*	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	186										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GACTTTACCCCACCAGGCAGC	0.557000														107			26		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198721736	198721736	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:198721736G>A	uc001gur.1	+	30	3518	c.3338G>A	c.(3337-3339)cGa>cAa	p.R1113Q	PTPRC_uc001gut.1_Missense_Mutation_p.R952Q	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	1113	Tyrosine-protein phosphatase 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1113R(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAAGACTCTCGAACTGTGTAC	0.368000														24			6		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140907670	140907670	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140907670G>A	uc004cog.3	+	17	2395	c.2250G>A	c.(2248-2250)gcG>gcA	p.A750A	CACNA1B_uc022bqn.1_Silent_p.A750A|CACNA1B_uc011mfd.2_Silent_p.A352A	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	750					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGTCTGCCGCGAACATCTCCA	0.592000														29			8		0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50600952	50600952	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:50600952G>A	uc001wxs.4	-	18	3062	c.2964C>T	c.(2962-2964)ttC>ttT	p.F988F	SOS2_uc010tql.2_Silent_p.F955F	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	988	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GGTTTTCAAAGAATCTCTGGA	0.289000														173			68		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7673916	7673916	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7673916C>T	uc002giu.1	+	24	4154	c.4140C>T	c.(4138-4140)ctC>ctT	p.L1380L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1380	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGACTCAGCTCGACATAGTAC	0.542000														47			29		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27720202	27720202	+	Missense_Mutation	SNP	G	A	A	rs148289865		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27720202G>A	uc002rky.3	+	1	218	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	FNDC4_uc002rkx.3_5'Flank|GCKR_uc010ezd.3_Missense_Mutation_p.R51Q|GCKR_uc010ylu.2_5'UTR	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	51					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AACATTGTTCGACTGCTAGGG	0.517000														50			30		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69050671	69050671	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:69050671G>A	uc003xxv.1	+	32	4033	c.4006G>A	c.(4006-4008)Gaa>Aaa	p.E1336K		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1336					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGCCATGTTAGAAGATACACT	0.303000														107			8		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589787	156589787	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156589787G>A	uc003lwn.3	-	1	1589	c.1489C>T	c.(1489-1491)Cgc>Tgc	p.R497C		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	497						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGCTCTTGCGAGAGGAGCCA	0.502000														148			13		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826190	43826190	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:43826190C>T	uc010skx.2	-	20	3013	c.3013G>A	c.(3013-3015)Gaa>Aaa	p.E1005K	ADAMTS20_uc001rno.1_Missense_Mutation_p.E159K|ADAMTS20_uc001rnp.1_Missense_Mutation_p.E159K	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1005	TSP type-1 4.					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)		TCTTGGCATTCATTGTCAGCA	0.428000														53			39		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299256	62299256	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62299256G>A	uc001ntl.3	-	4	2933	c.2633C>T	c.(2632-2634)cCc>cTc	p.P878L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	878					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTCATCTTGGGCATCTTCAG	0.498000														355			136		0	0	1	0	0
CLC	1178	broad.mit.edu	37	19	40225045	40225045	+	Missense_Mutation	SNP	G	A	A	rs149971661	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40225045G>A	uc002omh.3	-	2	258	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C		NM_001828	NP_001819	Q05315	LPPL_HUMAN	Homo sapiens Charcot-Leyden crystal protein (CLC), mRNA.	61	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		ATGACCACACGACGACCAAAG	0.493000														137			55		0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219249050	219249050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219249050G>A	uc002vhv.3	+	2	575	c.235G>A	c.(235-237)Gag>Aag	p.E79K	SLC11A1_uc010zkb.1_Missense_Mutation_p.E79K|SLC11A1_uc010fvp.1_Missense_Mutation_p.E79K|SLC11A1_uc010fvq.1_Missense_Mutation_p.E12K|SLC11A1_uc010zkc.1_Missense_Mutation_p.E12K|SLC11A1_uc002vhu.1_Intron|SLC11A1_uc002vhw.3_5'UTR|SLC11A1_uc010fvr.3_5'Flank	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	79	Pro/Ser-rich.				L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAAACATCGAGTCAGATCT	0.587000														140			48		0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216680433	216680433	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:216680433C>T	uc001hkw.2	-	6	1398	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	ESRRG_uc009xdp.1_Missense_Mutation_p.E386K|ESRRG_uc001hky.1_Missense_Mutation_p.E386K|ESRRG_uc001hkz.2_Missense_Mutation_p.E347K|ESRRG_uc010puc.2_Missense_Mutation_p.E386K|ESRRG_uc001hla.2_Missense_Mutation_p.E386K|ESRRG_uc001hlb.2_Missense_Mutation_p.E386K|ESRRG_uc010pud.2_Missense_Mutation_p.E224K|ESRRG_uc021pja.1_Missense_Mutation_p.E158K|ESRRG_uc001hlc.1_Missense_Mutation_p.E386K|ESRRG_uc001hld.1_Missense_Mutation_p.E386K|ESRRG_uc001hkx.2_Missense_Mutation_p.E421K|ESRRG_uc009xdo.2_Missense_Mutation_p.E386K|ESRRG_uc001hle.2_Missense_Mutation_p.E386K|ESRRG_uc021piz.1_Missense_Mutation_p.E386K	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	409					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CGAGGGTCTTCCATGTGCTGG	0.507000														85			46		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109683539	109683539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:109683539C>T	uc001tob.3	+	37	5406	c.5287C>T	c.(5287-5289)Cct>Tct	p.P1763S	ACACB_uc001toc.3_Missense_Mutation_p.P1763S|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.P429S	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1763					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.P1763L(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAACCGACTTCCTGGTGGAAA	0.507000														67			24		0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177686749	177686749	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:177686749C>T	uc021yiz.1	-	12	1061	c.703_splice	c.e12-1	p.G235_splice	COL23A1_uc021yiy.1_Splice_Site_p.G11_splice|COL23A1_uc010jkt.2_Splice_Site_p.R82_splice	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	235	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CAGGCTCACCCTGGGGGAGGC	0.607000														165			52		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19335212	19335212	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19335212G>A	uc002nlz.3	+	4	847	c.748G>A	c.(748-750)Gat>Aat	p.D250N	NCAN_uc010ecc.1_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	250	Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGAACTCTACGATGTGTATTG	0.592000														97			27		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66942707	66942707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:66942707G>A	uc004dwu.2	+	6	3603	c.2488G>A	c.(2488-2490)Gaa>Aaa	p.E830K	AR_uc022byk.1_Intron|AR_uc004dwv.2_Missense_Mutation_p.E298K	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	829	Interaction with MYST2.|Ligand-binding.		L -> P (in prostate cancer).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	ATTCTTTGATGAACTTCGAAT	0.443000									Androgen Insensitivity Syndrome					16			4		0	0	1	0	0
LUZP4	51213	broad.mit.edu	37	X	114537894	114537894	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:114537894G>A	uc004eqa.3	+	2	287	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	LUZP4_uc004eqb.3_Intron	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	85						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CAACTCTGAGGAAGGAAATCA	0.343000														31			64		0	0	1	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83808025	83808025	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83808025G>A	uc002bjs.1	-	5	764	c.609C>T	c.(607-609)acC>acT	p.T203T		NM_016073	NP_057157	Q9Y3E1	HDGR3_HUMAN	Homo sapiens hepatoma-derived growth factor, related protein 3 (HDGFRP3), mRNA.	203					cell proliferation	nucleus	growth factor activity	p.G202W(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						ATGGTAGTTAGGTCTGTAAAA	0.313000														104			11		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23851691	23851691	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23851691G>A	uc001wjv.3	-	37	5813	c.5742C>T	c.(5740-5742)atC>atT	p.I1914I		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1914					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.I1914I(2)		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)		GGGACTCAGCGATGTCCGCCC	0.592000														96			42		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24432489	24432489	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24432489G>A	uc001bin.4	-	4	644	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	MYOM3_uc001bio.3_Missense_Mutation_p.R161C|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	161	Ig-like C2-type 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCGTGGGAGCGAAGAGGGATC	0.657000														62			6		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60741964	60741965	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:60741964_60741965GG>AA	uc002jad.3	+	1	576_577	c.174_175GG>AA	c.(172-177)cagggc>caAAgc	p.G59S	Y_RNA_uc021ubi.1_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	59	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGGAGGCCCAGGGCGGGCAGGT	0.619000														93			35		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091556	9091556	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9091556G>A	uc002mkp.3	-	0	463	c.259C>T	c.(259-261)Cct>Tct	p.P87S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	87	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						GTTGACTCAGGGAGAGCAGAG	0.537000														80			40		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406338	38406338	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38406338G>A	uc003jlc.2	+	6	1169	c.823G>A	c.(823-825)Gag>Aag	p.E275K	EGFLAM_uc003jlb.2_Missense_Mutation_p.E275K|EGFLAM_uc003jle.2_Missense_Mutation_p.E41K|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	275						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TATTTCCTTTGAGGAGGTAAC	0.428000														33			12		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21771626	21771626	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21771626G>A	uc001wag.3	+	4	724	c.724G>A	c.(724-726)Gag>Aag	p.E242K		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	242					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAAGTCTCCTGAGAAAATGTG	0.478000														37			26		0	0	1	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216779	26216779	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:26216779C>T	uc003ngz.2	-	0	94	c.93G>A	c.(91-93)aaG>aaA	p.K31K	HIST1H2AE_uc003nha.1_5'Flank	NM_003518	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bg (HIST1H2BG), mRNA.	31					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TACGACTGCGCTTGCGCTTCT	0.527000														230			58		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126208158	126208159	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:126208158_126208159CC>TT	uc010hsi.2	-	17	1902_1903	c.1848_1849GG>AA	c.(1846-1851)agggag>agAAag	p.E617K	UROC1_uc003eiz.2_Missense_Mutation_p.E557K	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	557					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TTGGAGGTCTCCCTAAAGGGGC	0.495000														142			38		0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32145279	32145279	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32145279G>A	uc001btk.1	-	41	3091	c.2726C>T	c.(2725-2727)cCa>cTa	p.P909L	COL16A1_uc001btj.1_Missense_Mutation_p.P722L|COL16A1_uc001btl.4_Missense_Mutation_p.P893L	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	909	Triple-helical region 4 (COL4) with 2 imperfections.		P -> L (in dbSNP:rs2229804).		cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGGAATACCTGGTGGACCCTG	0.627000														140			46		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246777	56246777	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:56246777C>T	uc002lhj.4	-	3	1445	c.1231G>A	c.(1231-1233)Ggg>Agg	p.G411R		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	411							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTCCTCACCCCAACTTCTTGG	0.572000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			13		0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75210016	75210016	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:75210016C>T	uc010dhc.3	+	16	2379	c.2059C>T	c.(2059-2061)Ctg>Ttg	p.L687L	SEC14L1_uc021udw.1_Silent_p.L687L|SEC14L1_uc021udx.1_Silent_p.L687L|SEC14L1_uc002jto.3_Silent_p.L687L|SEC14L1_uc010wth.2_Silent_p.L687L|SEC14L1_uc002jtm.3_Silent_p.L687L|SEC14L1_uc010wti.2_Silent_p.L653L|SEC14L1_uc010wtj.1_3'UTR|SEC14L1_uc002jtr.2_3'UTR	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	687					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CATGACGAGCCTGGAGTCCAG	0.667000														148			13		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634749	70634749	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70634749C>T	uc001xly.3	-	1	1145	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	SLC8A3_uc001xlw.3_Missense_Mutation_p.E131K|SLC8A3_uc001xlx.3_Missense_Mutation_p.E131K|SLC8A3_uc001xlz.3_Missense_Mutation_p.E131K|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	131					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAGACAGTTTCATTCCAGACC	0.478000														44			29		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77662359	77662359	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77662359G>A	uc011cbx.2	+	4	3986	c.3033G>A	c.(3031-3033)ctG>ctA	p.L1011L	SHROOM3_uc011cbz.1_Silent_p.L835L|SHROOM3_uc003hkf.1_Silent_p.L886L|SHROOM3_uc003hkg.3_Silent_p.L789L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1011	ASD1.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCGGCGCCTGACTCCCGAGC	0.726000														16			6		0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36117840	36117840	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:36117840G>A	uc003jkb.1	-	9	1714	c.1299C>T	c.(1297-1299)atC>atT	p.I433I		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	433						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACTGACCTCGATATAAATAT	0.333000														24			14		0	0	1	0	0
SGPP2	130367	broad.mit.edu	37	2	223386575	223386575	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:223386575G>A	uc010zlo.2	+	2	468	c.468G>A	c.(466-468)ctG>ctA	p.L156L	SGPP2_uc010zlp.2_Silent_p.L28L	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.	156					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	p.L156L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		AAAAGAGACTGATCGCTGAAT	0.522000														84			29		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997556	115997556	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:115997556C>T	uc003ibu.3	-	1	1316	c.637G>A	c.(637-639)Ggc>Agc	p.G213S	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	213	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGAAGAGGGCCTTTCTCAACC	0.408000														100			34		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544322	82544322	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82544322G>A	uc003uhx.2	-	6	13269	c.12980C>T	c.(12979-12981)tCc>tTc	p.S4327F	PCLO_uc003uhv.2_Missense_Mutation_p.S4327F|PCLO_uc010lec.3_Missense_Mutation_p.S1292F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4258					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						ATGACTAAAGGAAACATCTAG	0.423000														43			21		0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1457134	1457134	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:1457134G>A	uc002lsr.1	+	8	1307	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	APC2_uc002lss.1_5'UTR|APC2_uc002lst.1_Missense_Mutation_p.E367K|APC2_uc002lsu.1_Missense_Mutation_p.E366K	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	367					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		GGCGCGCAAGGAGATGCGCGT	0.731000														4			4		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63447955	63447955	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:63447955G>A	uc001xfx.3	-	5	628	c.577C>T	c.(577-579)Cct>Tct	p.P193S	KCNH5_uc001xfy.3_Missense_Mutation_p.P193S|KCNH5_uc001xfz.1_Missense_Mutation_p.P135S|KCNH5_uc001xga.3_Missense_Mutation_p.P135S	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	193					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTATACTGAGGAAGGATATCT	0.358000														48			28		0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1537698	1537698	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1537698C>T	uc010uvf.2	-	1	400	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	139						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GCCTTCCTTTCCCGGGCCCGC	0.706000														40			18		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142650990	142650990	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142650990C>T	uc003wcb.3	-	8	1188	c.978G>A	c.(976-978)ccG>ccA	p.P326P		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	326					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCAGGGACATCGGTGTGAATG	0.522000														166			40		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50144128	50144128	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:50144128C>T	uc010njr.2	-	7	1362	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	440					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTCCTACAGTCATCATGCACC	0.458000														2			3		0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41276491	41276491	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:41276491G>A	uc001zni.3	-	32	4194	c.3981C>T	c.(3979-3981)atC>atT	p.I1327I	INO80_uc010ucu.2_Non-coding_Transcript|INO80_uc021sjj.1_Silent_p.I121I	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	1327	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAACAAATGGGATCACCAGGT	0.478000														51			17		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17464325	17464325	+	Silent	SNP	C	T	T	rs61748766	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17464325C>T	uc001mnc.3	-	9	1698	c.1572G>A	c.(1570-1572)acG>acA	p.T524T	ABCC8_uc010rcy.1_Silent_p.T523T	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	524	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TCCTGCGGGTCGTCTCCACCC	0.597000														58			20		0	0	1	0	0
KHK	3795	broad.mit.edu	37	2	27322557	27322557	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27322557G>A	uc002ril.2	+	7	1353	c.836G>A	c.(835-837)aGa>aAa	p.R279K	KHK_uc002rim.2_Missense_Mutation_p.R279K|KHK_uc002rio.2_Missense_Mutation_p.R195K|CGREF1_uc010ylf.2_3'UTR|CGREF1_uc021vez.1_3'UTR	NM_000221	NP_000212	P50053	KHK_HUMAN	Homo sapiens ketohexokinase (fructokinase) (KHK), transcript variant a, mRNA.	279					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGCACTGAGATTCGGGTGC	0.617000														32			15		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33549452	33549452	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:33549452C>T	uc003jia.1	-	20	4325	c.4162G>A	c.(4162-4164)Gag>Aag	p.E1388K	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E1303K	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1388	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R1387H(1)|p.R1387C(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACTGAATCTCGCGTATCTTG	0.562000										HNSCC(64;0.19)				119			19		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058091	79058091	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:79058091C>T	uc002bej.4	-	18	4373	c.4162G>A	c.(4162-4164)Gtc>Atc	p.V1388I	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1388					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTCTCAGGGACTCTGTGGCTG	0.682000														75			7		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37650510	37650510	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:37650510C>T	uc002yvg.3	+	29	5905	c.5826C>T	c.(5824-5826)gcC>gcT	p.A1942A	DOPEY2_uc011aeb.2_Silent_p.A1891A	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1942					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						CACTCAGTGCCTACAATGCTC	0.522000														120			23		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8151201	8151201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8151201C>T	uc002mjf.3	-	53	6780	c.6763G>A	c.(6763-6765)Gaa>Aaa	p.E2255K	FBN3_uc002mje.3_Missense_Mutation_p.E94K	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2255	EGF-like 37; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCGTGGCATTCATTGTCATCT	0.652000														114			49		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61940042	61940042	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61940042G>A	uc011aau.2	+	7	1024	c.924G>A	c.(922-924)gtG>gtA	p.V308V	COL20A1_uc011aav.2_Silent_p.V129V	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	308	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ACCTGGGCGTGAACGTCTTCG	0.657000														8			8		0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95606832	95606832	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:95606832G>A	uc003uoc.4	+	6	827	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	DYNC1I1_uc003uod.4_Missense_Mutation_p.E167K|DYNC1I1_uc003uob.3_Missense_Mutation_p.E147K|DYNC1I1_uc003uoe.4_Missense_Mutation_p.E164K|DYNC1I1_uc010lfl.3_Missense_Mutation_p.E173K	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	184					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.E183*(1)		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)			AGAGGATGAGGAAGATGAGGA	0.368000														25			19		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56324854	56324854	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56324854G>A	uc002ivt.3	+	3	496	c.180G>A	c.(178-180)atG>atA	p.M60I	LPO_uc010dco.2_Missense_Mutation_p.M60I|LPO_uc010wnr.1_Intron|LPO_uc010wns.2_Missense_Mutation_p.M1I|LPO_uc010dcp.3_Intron|LPO_uc010dcq.3_5'Flank	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	60					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGACCGCCATGAGCTCTGAGA	0.632000														53			18		0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71634886	71634886	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:71634886G>A	uc001jql.3	+	4	938	c.402G>A	c.(400-402)ggG>ggA	p.G134G	COL13A1_uc021prz.1_Silent_p.G134G|COL13A1_uc021psa.1_Intron|COL13A1_uc021psb.1_Intron|COL13A1_uc001jqk.2_Silent_p.G134G|COL13A1_uc021psc.1_Silent_p.G134G|COL13A1_uc021psd.1_Silent_p.G134G|COL13A1_uc010qjf.2_Intron|COL13A1_uc021pse.1_Intron|COL13A1_uc021psf.1_Silent_p.G134G|COL13A1_uc021psg.1_Silent_p.G134G|COL13A1_uc021psh.1_Silent_p.G134G	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	134	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	ATCATCAGGGGGACAAAGGTG	0.547000														33			12		0	0	1	0	0
DLX4	1748	broad.mit.edu	37	17	48050471	48050471	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48050471C>T	uc002ipv.3	+	1	589	c.318C>T	c.(316-318)tcC>tcT	p.S106S	DLX4_uc002ipw.3_Silent_p.S34S|DLX4_uc021tzu.1_Silent_p.S34S	NM_138281	NP_612138	Q92988	DLX4_HUMAN	Homo sapiens distal-less homeobox 4 (DLX4), transcript variant 1, mRNA.	106					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CGGAACCCTCCGAGCGGCGCC	0.662000														51			25		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318208	3318208	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:3318208C>T	uc003ggw.3	+	1	1215	c.311C>T	c.(310-312)tCc>tTc	p.S104F	RGS12_uc003ggu.2_Missense_Mutation_p.S104F|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.S104F|RGS12_uc003ggx.1_Missense_Mutation_p.S104F	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	104						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGCTTCGAATCCTGTTCCAGT	0.473000														84			25		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281937	152281937	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152281937C>T	uc001ezu.1	-	2	5461	c.5425G>A	c.(5425-5427)Ggt>Agt	p.G1809S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1809	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCCTGACCCTCTTGGGAC	0.597000									Ichthyosis					543			128		0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209782374	209782374	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:209782374G>A	uc001hhd.3	+	7	787	c.685G>A	c.(685-687)Gag>Aag	p.E229K	CAMK1G_uc001hhf.4_Missense_Mutation_p.E229K|CAMK1G_uc001hhe.3_Missense_Mutation_p.E229K	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	229	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TAAGCTTTTCGAGAAGATCAA	0.493000														120			55		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23803905	23803905	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:23803905C>T	uc003gqs.3	-	10	2203	c.2083G>A	c.(2083-2085)Gac>Aac	p.D695N	PPARGC1A_uc003gqt.3_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	695	RRM.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding	p.R694M(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TCAAAACGGTCCCTCAGTTCT	0.458000														119			13		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506994	155506994	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155506994G>A	uc003iod.1	-	4	1645	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	FGA_uc003ioe.1_Silent_p.F529F|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	529					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGAAACCTGGGAATGTTTTTC	0.473000														70			26		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7582885	7582885	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7582885G>A	uc003mxp.1	+	23	5669	c.5390G>A	c.(5389-5391)aGg>aAg	p.R1797K	DSP_uc003mxq.1_Missense_Mutation_p.R1198K|DSP_uc021yle.1_Missense_Mutation_p.R1354K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1797	Central fibrous rod domain.				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)		GCATCTAATAGGATTCAGGAA	0.373000														75			28		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126132444	126132444	+	Missense_Mutation	SNP	G	A	A	rs139824767		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:126132444G>A	uc004bnx.1	+	6	1204	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	CRB2_uc004bnw.1_Missense_Mutation_p.G371E	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	371	EGF-like 8; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGCACGGCGGAACCTGCAGT	0.602000														59			20		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21227996	21227996	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21227996G>A	uc002red.3	-	25	11872	c.11744C>T	c.(11743-11745)tCc>tTc	p.S3915F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3915					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTGCATGTGGAATCCAGGAC	0.418000														122			56		0	0	1	0	0
CCDC70	83446	broad.mit.edu	37	13	52439631	52439631	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:52439631G>A	uc010tgr.1	-	0		c.589C>T			CCDC70_uc001vfu.4_Silent_p.K39K|CCDC70_uc021rjv.1_Silent_p.K39K			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		TTCGCCAGAAGAAACTAATGC	0.488000														87			24		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047750	9047750	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9047750G>A	uc002mkp.3	-	4	34085	c.33881C>T	c.(33880-33882)tCt>tTt	p.S11294F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11296	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						GGTGACTGTAGAAGGCATAGT	0.473000														26			9		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63129901	63129901	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63129901G>A	uc010rmo.1	+	8		c.1023G>A						Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.							integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAAACCAGAGGAGGGCTTAAA	0.458000														25			12		0	0	1	0	0
C15orf26	161502	broad.mit.edu	37	15	81427637	81427637	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:81427637G>A	uc002bgb.3	+	1	123	c.96G>A	c.(94-96)aaG>aaA	p.K32K	C15orf26_uc010blp.1_Silent_p.K7K	NM_173528	NP_775799	Q6P656	CO026_HUMAN	Homo sapiens chromosome 15 open reading frame 26 (C15orf26), mRNA.	32										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TCTTAGAGAAGAGAGACAAGG	0.323000														113			18		0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2983188	2983188	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2983188G>A	uc001qlf.3	-	1	740	c.457C>T	c.(457-459)Cct>Tct	p.P153S	FOXM1_uc001qle.3_Missense_Mutation_p.P153S|FOXM1_uc009zea.3_Missense_Mutation_p.P153S|FOXM1_uc009zeb.3_Missense_Mutation_p.P153S|FOXM1_uc001qlg.3_Missense_Mutation_p.P153S	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	153					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGTGGTCTAGGAAGATTCACA	0.557000														123			16		0	0	1	0	0
C2orf80	389073	broad.mit.edu	37	2	209045522	209045522	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:209045522C>T	uc002vcr.3	-	5	485	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_001099334	NP_001092804	Q0P641	CB080_HUMAN	Homo sapiens chromosome 2 open reading frame 80 (C2orf80), mRNA.	105								p.E105E(1)		endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						TTAAAGACTTCCTCAATCGGG	0.358000														84			29		0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	120008550	120008550	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:120008550C>T	uc001pwz.3	-	0	314	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	64					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTCCTACCTTCCCCTGGCTTC	0.632000														156			53		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934633	28934633	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28934633C>T	uc002kwp.3	+	14	2686	c.2474C>T	c.(2473-2475)cCt>cTt	p.P825L	DSG1_uc010xbp.2_Missense_Mutation_p.P184L	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	825					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)			CATCCTAAGCCTATTCTCGAT	0.517000														164			67		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34002691	34002691	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34002691C>T	uc001bxm.1	-	61	9987	c.9810G>A	c.(9808-9810)ccG>ccA	p.P3270P	CSMD2_uc001bxn.1_Silent_p.P3126P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3126						integral to membrane|plasma membrane	protein binding	p.P3126P(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGTCAGGGTCGGATCTGGAT	0.517000														57			23		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497306	1497306	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:1497306C>T	uc003wpl.3	+	1	544	c.447C>T	c.(445-447)atC>atT	p.I149I	DLGAP2_uc003wpm.3_Silent_p.I149I	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	228					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCGGGCGGATCCGCCACCTGG	0.687000														10			3		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086734	92086734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92086734C>T	uc001pdj.4	+	0	1473	c.1456C>T	c.(1456-1458)Cca>Tca	p.P486S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	486	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R485L(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAAAGTGTCCCAGTGGGAAC	0.413000										TCGA Ovarian(4;0.039)				52			6		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25439060	25439060	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:25439060G>A	uc002wux.1	-	21	3876	c.3802C>T	c.(3802-3804)Ctt>Ttt	p.L1268F	NINL_uc010gdn.1_Missense_Mutation_p.L919F|NINL_uc002wuw.1_Missense_Mutation_p.L59F	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	1268					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCTCCCTGAAGGCTGAGCAGG	0.687000														58			11		0	0	1	0	0
GPD1	2819	broad.mit.edu	37	12	50497861	50497861	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:50497861G>A	uc001rvz.3	+	0	61	c.28G>A	c.(28-30)Ggc>Agc	p.G10S	GPD1_uc010smp.1_Missense_Mutation_p.G10S|GPD1_uc001rwa.3_Missense_Mutation_p.G10S	NM_005276	NP_005267	P21695	GPDA_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA.	10					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	CTGCATTGTAGGCTCCGGGAA	0.587000														95			26		0	0	1	0	0
CXCR6	10663	broad.mit.edu	37	3	45988648	45988648	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:45988648G>A	uc003cpc.1	+	1	756	c.675G>A	c.(673-675)caG>caA	p.Q225Q	FYCO1_uc003cpb.4_Intron|FYCO1_uc011bal.1_Intron|CXCR6_uc010hix.1_Silent_p.Q225Q|CXCR6_uc021www.1_Silent_p.Q225Q	NM_006564	NP_006555	O00574	CXCR6_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 6 (CXCR6), mRNA.	225					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAGGCTTCCAGAAGCACAGAT	0.498000														85			25		0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595299	44595299	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44595299C>T	uc001clp.3	+	1	414	c.356C>T	c.(355-357)cCc>cTc	p.P119L	KLF17_uc009vxf.1_Missense_Mutation_p.P82L	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	119					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGAATGTCTCCCCCTCAGCAA	0.552000														129			36		0	0	1	0	0
OTUB2	78990	broad.mit.edu	37	14	94510998	94510998	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94510998G>A	uc001yci.3	+	4	530	c.370G>A	c.(370-372)Gac>Aac	p.D124N		NM_023112	NP_075601	Q96DC9	OTUB2_HUMAN	Homo sapiens OTU domain, ubiquitin aldehyde binding 2 (OTUB2), mRNA.	124	OTU.				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		GGTGTTCAACGACCAGAGTGC	0.587000														45			15		0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3122903	3122903	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:3122903G>A	uc001lxk.2	-	12	1610	c.1452C>T	c.(1450-1452)gcC>gcT	p.A484A	OSBPL5_uc010qxq.1_Silent_p.A395A|OSBPL5_uc009ydw.2_Silent_p.A416A|OSBPL5_uc001lxl.2_Silent_p.A416A|OSBPL5_uc009ydx.3_Silent_p.A508A	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	484					Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGACGTGGAAGGCAGACACGG	0.637000														41			17		0	0	1	0	0
FAM190A	401145	broad.mit.edu	37	4	91234063	91234063	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:91234063G>A	uc003hsv.4	+	2	1714	c.1374G>A	c.(1372-1374)agG>agA	p.R458R	FAM190A_uc003hsu.3_Silent_p.R458R|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Silent_p.R458R	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	458										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TTATAGAGAGGAGACTGCGAT	0.348000														7			3		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48267435	48267435	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48267435G>A	uc002iqm.3	-	35	2612	c.2486C>T	c.(2485-2487)cCt>cTt	p.P829L		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	829	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.E828K(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AGCATCACCAGGTTCGCCTTT	0.657000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							65			29		0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95194801	95194801	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:95194801C>T	uc003htb.4	+	11	1783	c.1606C>T	c.(1606-1608)Ctg>Ttg	p.L536L	SMARCAD1_uc003htc.4_Silent_p.L536L|SMARCAD1_uc003htd.4_Silent_p.L536L|SMARCAD1_uc010ila.3_Silent_p.L399L|SMARCAD1_uc011cdw.2_Silent_p.L106L	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	536	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CATTGCATTTCTGGCATACCT	0.308000														38			19		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197446823	197446823	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197446823C>T	uc001gtz.3	+	11	4244	c.4035C>T	c.(4033-4035)ttC>ttT	p.F1345F	CRB1_uc010poz.2_Silent_p.F1321F|CRB1_uc009wza.3_Silent_p.F1233F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.F809F|CRB1_uc010ppd.2_Silent_p.F826F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1345					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCGACATTTTCACCACTATTG	0.438000														51			6		0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61154191	61154191	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61154191G>A	uc002liz.4	+	2	323	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	SERPINB5_uc002liy.2_Missense_Mutation_p.E61K	NM_002639	NP_002630	P36952	SPB5_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 5 (SERPINB5), mRNA.	61					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TCTTCATTTTGAAAATGTCAA	0.388000														79			34		0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331570	85331570	+	Silent	SNP	G	A	A	rs142600008		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:85331570G>A	uc001dkl.2	-	0	273	c.234C>T	c.(232-234)ttC>ttT	p.F78F	LPAR3_uc009wcj.1_Silent_p.F78F	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	78					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAATTCCAGCGAAGAAATCGG	0.433000														180			23		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10551334	10551334	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:10551334G>A	uc002czw.3	+	5	1459	c.1300G>A	c.(1300-1302)Gga>Aga	p.G434R	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.G434R|ATF7IP2_uc002czv.3_Missense_Mutation_p.G434R|ATF7IP2_uc010uyo.2_Intron|ATF7IP2_uc010uyq.2_Intron	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TTCCGAAAAAGGAAGTAAAAA	0.294000														110			43		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39496022	39496022	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39496022C>T	uc003xni.3	+	9	921	c.866C>T	c.(865-867)cCt>cTt	p.P289L	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.P265L	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	289	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.P289L(2)|p.P289F(2)|p.P289S(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GCAACATTTCCTGGCACTGTA	0.279000														59			12		0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7709559	7709559	+	Silent	SNP	C	T	T	rs139160342	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7709559C>T	uc010xjr.2	+	13	1245	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	STXBP2_uc002mha.4_Silent_p.I389I|STXBP2_uc002mhb.4_Silent_p.I386I|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_Silent_p.I17I	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	389					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGAAGCTGATCGTTCCGGTGC	0.657000														47			22		0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105843141	105843141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105843141C>T	uc001yqu.3	+	8	1342	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	PACS2_uc001yqs.2_Missense_Mutation_p.P205S|PACS2_uc001yqt.3_Missense_Mutation_p.P280S|PACS2_uc001yqv.3_Missense_Mutation_p.P280S	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA.	280					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GGAGCACATCCCCGAGGCAGA	0.677000														64			14		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968013	102968013	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:102968013G>A	uc002tbu.1	+	10	1574	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	435	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CACTGCAGTGGAAACCAACAT	0.413000														66			21		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891236	18891236	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:18891236G>A	uc001rdy.3	+	0	192	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	12					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GAAGGACAAGGAAAGAGTAAT	0.423000														91			8		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179561838	179561838	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179561838G>A	uc010pnp.2	+	1	606	c.88G>A	c.(88-90)Gag>Aag	p.E30K	TDRD5_uc021pfm.1_Missense_Mutation_p.E30K|TDRD5_uc001gnf.2_Missense_Mutation_p.E30K|TDRD5_uc021pfn.1_Missense_Mutation_p.E30K|DQ578586_uc010pno.2_5'Flank	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	30	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GAGCCCACAGGAGTTGGAGAA	0.483000														126			41		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864564	131864564	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:131864564G>A	uc003vra.4	-	19	3985	c.3756C>T	c.(3754-3756)ttC>ttT	p.F1252F		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1252						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGGCCACGATGAAAATGATGA	0.612000														23			6		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30257204	30257204	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:30257204G>A	uc002kxm.1	-	7	2066	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	560						cytosol|endoplasmic reticulum membrane		p.R560*(2)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GGGCCACTTCGACCCTCCAAA	0.478000														85			30		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756466	56756466	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56756466C>T	uc010rjp.2	+	0	78	c.78C>T	c.(76-78)atC>atT	p.I26I		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTTGGTGTATCCTCTTCATTG	0.393000														161			41		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140230471	140230471	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140230471G>A	uc003lhu.2	+	0	3115	c.2391G>A	c.(2389-2391)ggG>ggA	p.G797G	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_uc003lht.1_Silent_p.G797G	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	834					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)			ATTCAACTGGGAAGGTGGGTT	0.423000														26			33		0	0	1	0	0
FAM81B	153643	broad.mit.edu	37	5	94772593	94772593	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:94772593G>A	uc003kla.1	+	6	922	c.876G>A	c.(874-876)atG>atA	p.M292I	FAM81B_uc010jbe.1_Missense_Mutation_p.M88I	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	292										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GCCACGAAATGAACCTTTTGG	0.378000														44			15		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25885707	25885707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:25885707G>A	uc001isj.3	+	9	2194	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	GPR158_uc001isk.3_Missense_Mutation_p.E87K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	712						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P711S(1)|p.P711Q(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTTGGATCCAGAGGACATTCG	0.488000														72			20		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30961695	30961695	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:30961695G>A	uc003tbv.2	+	1	509	c.399G>A	c.(397-399)gtG>gtA	p.V133V	FAM188B_uc011kac.1_Silent_p.V193V|FAM188B_uc010kwf.1_Silent_p.V50V|FAM188B_uc010kwh.1_Silent_p.V82V|FAM188B_uc022abh.1_Silent_p.V18V	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGATGGTGTGAACTCGGGCC	0.652000														77			29		0	0	1	0	0
LIPK	643414	broad.mit.edu	37	10	90492287	90492287	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:90492287C>T	uc010qmv.2	+	4	648	c.648C>T	c.(646-648)acC>acT	p.T216T		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	Homo sapiens lipase, family member K (LIPK), mRNA.	216					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		AACTAACAACCCTTTCCAGGC	0.363000														201			55		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39504228	39504228	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:39504228G>A	uc003thb.2	+	10	2162	c.2019G>A	c.(2017-2019)gaG>gaA	p.E673E	POU6F2_uc022acb.1_Silent_p.E637E	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	673					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AACAGCACGAGCCGGCCACGG	0.453000														10			8		0	0	1	0	0
NXPH4	11247	broad.mit.edu	37	12	57619175	57619175	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57619175C>T	uc010srf.2	+	1	747	c.572C>T	c.(571-573)cCc>cTc	p.P191L	NXPH4_uc009zpj.3_5'UTR	NM_007224	NP_009155	O95158	NXPH4_HUMAN	Homo sapiens neurexophilin 4 (NXPH4), mRNA.	191	IV (linker domain).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGCTGGGGCCCCCGCTGGGG	0.756000														40			20		0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776758	5776758	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5776758C>T	uc001mbu.3	+	0	836	c.788C>T	c.(787-789)tCc>tTc	p.S263F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TCCTTCTTTTCCCACCGCTTT	0.478000														142			45		0	0	1	0	0
PLGLA	285189	broad.mit.edu	37	2	107004058	107004058	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:107004058G>A	uc002tdp.3	+	1		c.147G>A								Homo sapiens plasminogen-like A (PLGLA), non-coding RNA.																		TGTGATAATGGCTGAAAACAA	0.348000														190			54		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94512578	94512578	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94512578C>T	uc001dqh.3	-	18	2919	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K	ABCA4_uc010otn.1_Missense_Mutation_p.E865K	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	939	ABC transporter 1.				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)		CCACAGGGCTCAAAAATCTTT	0.507000														249			24		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321663	52321663	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:52321663G>A	uc003xqu.4	-	16	2622	c.2521C>T	c.(2521-2523)Cct>Tct	p.P841S	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	841					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGGAAACAAGGAGGGTCGTTG	0.692000														27			9		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140414484	140414484	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140414484G>A	uc010ncj.1	-	10	1306	c.969C>T	c.(967-969)gcC>gcT	p.A323A	PNPLA7_uc011mfa.1_Silent_p.A29A|PNPLA7_uc004cnf.2_Silent_p.A298A	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	298			R -> Q (in dbSNP:rs11137410).		lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CGAGAGGGATGGCCTGGCTCT	0.597000														161			75		0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125805234	125805234	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:125805234G>A	uc001lhn.3	-	1	1229	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CHST15_uc001lhm.3_Silent_p.F165F|CHST15_uc010que.2_Silent_p.F165F|CHST15_uc001lho.3_Silent_p.F165F	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	165					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GTCTGGTCGTGAACTCAATCC	0.383000														284			109		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49700328	49700328	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49700328G>A	uc003cxe.4	+	6	10851	c.10737G>A	c.(10735-10737)gaG>gaA	p.E3579E		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3579					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGGGCCAGGAGGAGACGGACT	0.612000														75			25		0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	109001422	109001422	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:109001422C>T	uc003yms.3	-	2	803	c.145G>A	c.(145-147)Gac>Aac	p.D49N	RSPO2_uc003ymq.3_5'UTR|RSPO2_uc003ymr.3_Intron	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	49					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CACCCATTGTCCTTTGAACAA	0.403000														55			22		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49386169	49386169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:49386169G>A	uc001jgi.3	-	21	3147	c.2816C>T	c.(2815-2817)tCa>tTa	p.S939L	FRMPD2_uc001jgh.3_Missense_Mutation_p.S907L|FRMPD2_uc001jgj.3_Missense_Mutation_p.S908L|FRMPD2_uc001jgf.3_5'Flank|FRMPD2_uc001jgg.3_5'Flank|FRMPD2_uc001jgk.3_5'UTR	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	939					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			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)		TTCTGGAGGTGATGGAGGACA	0.423000														27			12		0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89199393	89199393	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:89199393G>A	uc003hrm.4	-	1	733	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	PPM1K_uc010ikp.1_Nonsense_Mutation_p.Q115*|PPM1K_uc003hrn.3_Nonsense_Mutation_p.Q115*	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1K (PPM1K), nuclear gene encoding mitochondrial protein, mRNA.	115	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TCTGTCAGCTGAGCGAAGTCA	0.463000														19			17		0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913356	77913356	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:77913356G>A	uc022bzi.1	-	0	562	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	ZCCHC5_uc004edc.1_Missense_Mutation_p.P188S	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	188	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						GGCTCCTGGGGAGGTGGAAGC	0.542000														18			21		0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288790	125288790	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125288790G>A	uc004bmn.1	-	0	783	c.783C>T	c.(781-783)ccC>ccT	p.P261P		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AGGCAATGGAGGGAGGACACA	0.527000														58			9		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226490	23226490	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23226490C>T	uc002dlm.1	+	12	1789	c.1650C>T	c.(1648-1650)atC>atT	p.I550I		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	550					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCGAGATCATCGAGGTCTTCT	0.557000														64			15		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201196111	201196111	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201196111G>A	uc001gwc.3	+	22	11018	c.10888G>A	c.(10888-10890)Gag>Aag	p.E3630K	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						CCAGGGCTGCGAGTGCTGCAT	0.677000														81			45		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908728	103908728	+	Missense_Mutation	SNP	G	A	A	rs148474807	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:103908728G>A	uc001phr.2	+	0	1421	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	393					proteolysis		aspartic-type endopeptidase activity	p.R393*(1)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GATTCAGGACGAAAAGAGCAT	0.428000														52			9		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069466	6069466	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:6069466G>A	uc010ndi.3	-	1	506	c.42C>T	c.(40-42)ttC>ttT	p.F14F	NLGN4X_uc004crp.3_Silent_p.F14F|NLGN4X_uc010ndh.3_Silent_p.F14F|NLGN4X_uc004crq.3_Silent_p.F14F|NLGN4X_uc004crr.3_Silent_p.F14F|NLGN4X_uc010ndj.3_Silent_p.F14F	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	14					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.F14L(2)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGACCGGGGTGAACAACAAAG	0.512000														21			22		0	0	1	0	0
ACSS1	84532	broad.mit.edu	37	20	25003624	25003624	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:25003624G>A	uc002wub.3	-	4	992	c.912C>T	c.(910-912)atC>atT	p.I304I	ACSS1_uc002wuc.3_Silent_p.I304I|ACSS1_uc021wbm.1_Silent_p.I304I|ACSS1_uc010gdc.3_Intron|ACSS1_uc002wua.3_Silent_p.I221I|ACSS1_uc021wbl.1_Silent_p.I183I|ACSS1_uc002wud.1_Non-coding_Transcript	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	304					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGTATGGACGATGCCCTTGG	0.637000														26			9		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160050863	160050863	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:160050863C>T	uc002uag.3	+	16	3112	c.2838C>T	c.(2836-2838)ggC>ggT	p.G946G	TANC1_uc010zcm.2_Silent_p.G938G|TANC1_uc010fom.1_Silent_p.G752G	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	946						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTCACCTTGGCCACGAGGAAG	0.557000														65			27		0	0	1	0	0
TAPBP	6892	broad.mit.edu	37	6	33281164	33281164	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33281164G>A	uc003odx.2	-	2	645	c.299C>T	c.(298-300)cCc>cTc	p.P100L	TAPBP_uc010jut.2_Intron|TAPBP_uc003odz.3_Missense_Mutation_p.P100L|TAPBP_uc003ody.3_Missense_Mutation_p.P100L|TAPBP_uc011drc.2_Missense_Mutation_p.P100L	NM_003190	NP_003181	O15533	TPSN_HUMAN	Homo sapiens TAP binding protein (tapasin) (TAPBP), transcript variant 1, mRNA.	100					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|TAP1 binding|TAP2 binding|peptide antigen binding|peptide antigen-transporting ATPase activity|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CGCAGAGGCGGGGAGAGGCAC	0.706000														31			4		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73635892	73635892	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:73635892G>A	uc002avp.3	-	1	2037	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	348					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGGGATGGAGGAAATGAAATC	0.537000														62			22		0	0	1	0	0
FLVCR1	28982	broad.mit.edu	37	1	213046096	213046096	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:213046096C>T	uc001hjt.3	+	2	1158	c.960C>T	c.(958-960)tcC>tcT	p.S320S		NM_014053	NP_054772	Q9Y5Y0	FLVC1_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor 1 (FLVCR1), mRNA.	320					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		AAGAGTACTCCTATAAGAAAT	0.383000														54			14		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825586	26825586	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:26825586C>T	uc001zbb.3	-	6	833	c.730G>A	c.(730-732)Gac>Aac	p.D244N	GABRB3_uc021sgg.1_Missense_Mutation_p.D117N|GABRB3_uc021sgh.1_Missense_Mutation_p.D103N|GABRB3_uc001zaz.3_Missense_Mutation_p.D188N|GABRB3_uc001zba.3_Missense_Mutation_p.D188N	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	188					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.G244*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AACTCAATGTCATCCGTGGTG	0.507000														80			30		0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51446957	51446957	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51446957C>T	uc002pue.3	-	6	1030	c.812G>A	c.(811-813)aGa>aAa	p.R271K	KLK5_uc002puf.3_Missense_Mutation_p.R271K|KLK5_uc002pug.3_Missense_Mutation_p.R271K	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	271	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GACACCCGGTCTGTTGGGCCG	0.597000														86			20		0	0	1	0	0
ANO6	196527	broad.mit.edu	37	12	45742408	45742408	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:45742408C>T	uc010slf.2	+	6	1139	c.804C>T	c.(802-804)ctC>ctT	p.L268L	ANO6_uc001roo.3_Silent_p.L247L|ANO6_uc010sld.1_Silent_p.L247L|ANO6_uc010sle.1_Silent_p.L247L|ANO6_uc010slg.2_Silent_p.L229L	NM_001204803	NP_001191732	Q4KMQ2	ANO6_HUMAN	Homo sapiens anoctamin 6 (ANO6), transcript variant 5, mRNA.	247					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTTCCCACTCCATGATGTAA	0.403000														72			13		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38482250	38482250	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38482250C>T	uc010ive.1	-	19	3073	c.2741G>A	c.(2740-2742)cGa>cAa	p.R914Q	LIFR_uc003jli.2_Missense_Mutation_p.R914Q	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	914					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAATGCTGATCGAGTTTCCAG	0.388000			T	PLAG1	salivary adenoma									93			44		0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62415387	62415387	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62415387G>A	uc001nud.3	-	1	2218	c.2165C>T	c.(2164-2166)tCt>tTt	p.S722F	GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	722					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGAAGCCAAAGAAGCTGAAAC	0.537000														69			10		0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197596851	197596851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:197596851C>T	uc002utp.1	+	26	3299	c.3164C>T	c.(3163-3165)tCt>tTt	p.S1055F	CCDC150_uc010zgs.1_Missense_Mutation_p.S702F	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	1055										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CAGAGGCCTTCTGGGGAAGAC	0.423000														73			22		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584064	88584064	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:88584064G>A	uc003hqv.3	+	5	1238	c.1134G>A	c.(1132-1134)caG>caA	p.Q378Q	DMP1_uc003hqw.3_Silent_p.Q362Q	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	378					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TAGAAGACCAGGAAGACAGTG	0.532000														167			50		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215848384	215848384	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:215848384C>T	uc002vew.3	-	28	4589	c.4369G>A	c.(4369-4371)Gag>Aag	p.E1457K	ABCA12_uc002vev.3_Missense_Mutation_p.E1139K|ABCA12_uc010zjn.2_Missense_Mutation_p.E384K	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1457	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTACTTCCTCGTGGAGCTGC	0.433000														77			16		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167298029	167298029	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:167298029G>A	uc002udu.2	-	13	2164	c.2034C>T	c.(2032-2034)ttC>ttT	p.F678F	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	678					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACACATTCAGGAAGGAGTGGA	0.463000														51			20		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31902026	31902026	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31902026G>A	uc003nyf.3	+	5	1063	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.E267K|CFB_uc010jtk.3_Missense_Mutation_p.E135K|CFB_uc011doq.2_Missense_Mutation_p.E238K|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	283					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.S266S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GAGTGTGTCGGAAAATGACTT	0.532000														241			66		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70505136	70505136	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:70505136C>T	uc011caq.2	-	2	942	c.826G>A	c.(826-828)Gat>Aat	p.D276N	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.D75N|UGT2A1_uc021xox.1_Missense_Mutation_p.D75N|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	66					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ACAGGAGAATCGGGATTGGAG	0.353000														83			41		0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71712665	71712665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:71712665G>A	uc001jql.3	+	37	2589	c.2053G>A	c.(2053-2055)Ggg>Agg	p.G685R	COL13A1_uc021prz.1_Missense_Mutation_p.G636R|COL13A1_uc021psa.1_Missense_Mutation_p.G613R|COL13A1_uc021psb.1_Intron|COL13A1_uc001jqk.2_Missense_Mutation_p.G663R|COL13A1_uc021psc.1_Missense_Mutation_p.G654R|COL13A1_uc021psd.1_Missense_Mutation_p.G636R|COL13A1_uc010qjf.2_Missense_Mutation_p.G613R|COL13A1_uc021pse.1_Intron|COL13A1_uc021psf.1_Missense_Mutation_p.G685R|COL13A1_uc021psg.1_Missense_Mutation_p.G663R|COL13A1_uc021psh.1_Missense_Mutation_p.G654R	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	685	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AGGCTCTAGAGGGCCTAAAGG	0.428000														64			21		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32698944	32698944	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:32698944C>T	uc001utx.3	+	6	1144	c.648C>T	c.(646-648)ccC>ccT	p.P216P	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACCTTGGTCCCAACACTGGCA	0.428000														149			14		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43500853	43500853	+	Missense_Mutation	SNP	C	T	T	rs143974871	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43500853C>T	uc001zrb.4	-	6	1343	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	EPB42_uc001zqz.4_5'UTR|EPB42_uc001zra.4_Missense_Mutation_p.G318D|EPB42_uc010udm.2_Missense_Mutation_p.G240D	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	318					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GCCTCTCTGGCCTTCTCCGTT	0.587000														332			30		0	0	1	0	0
RIOK3	8780	broad.mit.edu	37	18	21053552	21053552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:21053552C>T	uc002kui.4	+	7	1592	c.975C>T	c.(973-975)atC>atT	p.I325I	RIOK3_uc010dls.3_Silent_p.I325I|RIOK3_uc010xas.2_Silent_p.I309I|RIOK3_uc010xat.2_Intron	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	325	Protein kinase.			I -> H (in Ref. 1; AAC26080).	chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTAAGATCATCCGCATGTGGG	0.323000														50			7		0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53072446	53072446	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53072446G>A	uc001sau.1	-	1	745	c.686C>T	c.(685-687)cCc>cTc	p.P229L	KRT1_uc001sav.1_Missense_Mutation_p.P229L	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	229	Linker 1.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CTCAAAGTAGGGCTCTAAATT	0.468000														100			16		0	0	1	0	0
HEXB	3074	broad.mit.edu	37	5	73981299	73981299	+	Missense_Mutation	SNP	C	T	T	rs147155126	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:73981299C>T	uc003kdf.4	+	0	331	c.214C>T	c.(214-216)Ctc>Ttc	p.L72F	HEXB_uc003kdd.3_Intron	NM_000521	NP_000512	P07686	HEXB_HUMAN	Homo sapiens hexosaminidase B (beta polypeptide) (HEXB), mRNA.	72					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		CCTGCTGCATCTCGCCCCGGA	0.706000														37			4		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306867	54306867	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54306867G>A	uc021smr.1	+	0	1767	c.1767G>A	c.(1765-1767)agG>agA	p.R589R	UNC13C_uc021sms.1_Silent_p.R589R	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	589					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)		TATGGCAGAGGAAACAGGAAG	0.463000														51			26		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126882788	126882788	+	Silent	SNP	G	A	A	rs146190169	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:126882788G>A	uc003vlr.2	-	0	782	c.471C>T	c.(469-471)tcC>tcT	p.S157S	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.S157S|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	157					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGATGGACACGGAGCTTGCTG	0.428000										HNSCC(24;0.065)				113			13		0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109717725	109717725	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:109717725C>T	uc001toe.4	-	9	1410	c.1305G>A	c.(1303-1305)tgG>tgA	p.W435*	FOXN4_uc009zvg.3_Nonsense_Mutation_p.W232*|FOXN4_uc001tof.4_Nonsense_Mutation_p.W255*	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	435					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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			large_intestine(5)|lung(9)|ovary(2)	16						TCATCTCCTCCCACAGGTTCC	0.557000														41			10		0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70189923	70189923	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70189923C>T	uc001opo.3	+	14	2071	c.1856C>T	c.(1855-1857)cCc>cTc	p.P619L	PPFIA1_uc001opn.2_Missense_Mutation_p.P619L|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	619					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTGCTATCGCCCAGCGGGCAG	0.552000														42			7		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72169145	72169145	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:72169145C>T	uc001xms.3	+	11	3930	c.3569C>T	c.(3568-3570)aCc>aTc	p.T1190I	SIPA1L1_uc001xmt.3_Missense_Mutation_p.T1190I|SIPA1L1_uc001xmu.3_Missense_Mutation_p.T1190I|SIPA1L1_uc001xmv.3_Missense_Mutation_p.T1190I|SIPA1L1_uc010ttm.2_Missense_Mutation_p.T665I	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1190					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGGCAGAACACCCAGTCAGAT	0.498000														49			28		0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15107640	15107640	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15107640C>T	uc001int.2	+	6	873	c.619C>T	c.(619-621)Cat>Tat	p.H207Y	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.H154Y	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	154					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						ACAAATAAGTCATTACCTTAT	0.403000														51			15		0	0	1	0	0
LOC344967	344967	broad.mit.edu	37	4	40045554	40045554	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:40045554G>A	uc011byr.1	-	2	596	c.102C>T	c.(100-102)ttC>ttT	p.F34F						Homo sapiens acyl-CoA thioesterase 7 pseudogene (LOC344967), non-coding RNA.																		TGGGCCACAGGAAGTGGGTGC	0.612000														10			4		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625528	140625528	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140625528G>A	uc003lje.3	+	0	382	c.382G>A	c.(382-384)Gat>Aat	p.D128N		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	128	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACATAAACGATCATTCTCC	0.438000														143			57		0	0	1	0	0
MSMB	4477	broad.mit.edu	37	10	51555737	51555737	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:51555737C>T	uc001jiq.3	+	1	42	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|MSMB_uc001jir.3_Missense_Mutation_p.L4F	NM_002443	NP_002434	P08118	MSMB_HUMAN	Homo sapiens microseminoprotein, beta- (MSMB), transcript variant PSP94, mRNA.	4						extracellular space|nucleus				lung(4)|ovary(2)|prostate(1)	7						ACAGAATGTTCTCCTGGGCAG	0.458000														40			17		0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71740883	71740883	+	Missense_Mutation	SNP	G	A	A	rs146975565		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:71740883G>A	uc002llf.2	-	9	1426	c.1346C>T	c.(1345-1347)tCg>tTg	p.S449L	FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Missense_Mutation_p.S373L	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	373										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TGTGGCAGGCGATCTCAGGCA	0.502000														197			55		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84270636	84270636	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:84270636G>A	uc021zcf.1	-	25	2503	c.2473C>T	c.(2473-2475)Cct>Tct	p.P825S	SNAP91_uc011dzd.2_Missense_Mutation_p.P323S|SNAP91_uc003pka.3_Missense_Mutation_p.P823S|SNAP91_uc011dze.2_Missense_Mutation_p.P823S|SNAP91_uc003pkc.3_Missense_Mutation_p.P795S|SNAP91_uc003pkd.3_Missense_Mutation_p.P518S|SNAP91_uc003pkb.3_Missense_Mutation_p.P734S	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	825	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCAACAGGAGGAACTGAACTG	0.423000														11			14		0	0	1	0	0
ORM1	5004	broad.mit.edu	37	9	117087345	117087345	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117087345G>A	uc004bik.4	+	4	564	c.453G>A	c.(451-453)acG>acA	p.T151T	ORM1_uc011lxo.2_Intron	NM_000607	NP_000598	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 1 (ORM1), mRNA.	151					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	AGCCAGAGACGACCAAGGAGC	0.607000														63			5		0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55814181	55814181	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55814181C>T	uc002qkf.3	+	11	1149	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	BRSK1_uc021vbs.1_Missense_Mutation_p.S325L|BRSK1_uc002qkg.3_Missense_Mutation_p.S325L|BRSK1_uc002qkh.3_Missense_Mutation_p.S20L|Mir_324_uc021vbt.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	325	UBA.				G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.R340H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AGCATGGCATCACTGGGCTGC	0.682000														60			24		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26228908	26228908	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26228908C>T	uc003abz.1	+	15	3254	c.3004C>T	c.(3004-3006)Ctc>Ttc	p.L1002F	MYO18B_uc003aca.1_Missense_Mutation_p.L883F|MYO18B_uc010guy.1_Missense_Mutation_p.L883F|MYO18B_uc010guz.1_Missense_Mutation_p.L883F|MYO18B_uc011aka.1_Missense_Mutation_p.L156F|MYO18B_uc011akb.1_Missense_Mutation_p.L515F	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1002	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						GCAGTTTGACCTCCCGGACCC	0.507000														88			11		0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173934254	173934254	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:173934254G>A	uc010pmt.2	-	8	1426	c.1339C>T	c.(1339-1341)Cgt>Tgt	p.R447C	RC3H1_uc001gju.4_Missense_Mutation_p.R447C|RC3H1_uc010pms.2_Missense_Mutation_p.R447C|RC3H1_uc001gjv.3_Missense_Mutation_p.R447C	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	447					cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TTCATTTTACGAAATCTATAT	0.368000														56			18		0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127262850	127262851	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:127262850_127262851GG>AA	uc004boo.1	-	3	575_576	c.388_389CC>TT	c.(388-390)ccg>TTg	p.P130L	NR5A1_uc022bnh.1_Missense_Mutation_p.P130L	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	130					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						AGGGGGCGGCGGGGGCACCCCC	0.703000														25			5		0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266304	3266304	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3266304G>A	uc010uwv.2	+	0	743	c.595G>A	c.(595-597)Gga>Aga	p.G199R						Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA.																		ATCCACAAAGGGAAGATGGAA	0.522000														43			15		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19070876	19070876	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19070876G>A	uc002dfp.2	+	14	2296	c.2166G>A	c.(2164-2166)agG>agA	p.R722R	TMC7_uc002dfq.3_Intron|TMC7_uc010vap.2_Intron	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	111						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ACACTGCAAGGAAAGTGCTGT	0.557000														28			9		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73676650	73676650	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:73676650C>T	uc002sje.1	+	7	3104	c.2993C>T	c.(2992-2994)cCt>cTt	p.P998L	ALMS1_uc002sjf.1_Missense_Mutation_p.P956L|ALMS1_uc002sjg.3_Missense_Mutation_p.P386L|ALMS1_uc002sjh.1_Missense_Mutation_p.P386L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	998	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCAACAGTACCTTCAGGTTCC	0.453000														120			50		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91827259	91827259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:91827259G>A	uc002bqv.3	+	11	2407	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.E355K	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	506					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AGACCTCTACGAGCACAAGTT	0.512000														334			34		0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113298936	113298936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:113298936G>A	uc003ian.4	+	2	230	c.3G>A	c.(1-3)atG>atA	p.M1I	ALPK1_uc003iam.3_Missense_Mutation_p.M1I|ALPK1_uc011cfw.1_Non-coding_Transcript|ALPK1_uc003iap.4_Missense_Mutation_p.M1I|ALPK1_uc011cfx.2_5'UTR|ALPK1_uc003iao.4_Non-coding_Transcript	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	1							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TAATCATCATGAATAATCAAA	0.473000														194			49		0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113817030	113817030	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113817030G>A	uc002tis.3	+	1	148	c.15G>A	c.(13-15)ggG>ggA	p.G5G	IL36RN_uc002tit.3_Silent_p.G5G	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA.	5						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCCTGAGTGGGGCGCTGTGCT	0.552000														54			16		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780987	88780987	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:88780987C>T	uc001pcq.3	-	0	254	c.54G>A	c.(52-54)ggG>ggA	p.G18G	GRM5_uc009yvm.3_Silent_p.G18G|GRM5_uc009yvn.2_Silent_p.G18G	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	18					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R17C(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ACTGTGCACTCCCACGGACAT	0.468000														70			31		0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71027107	71027107	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:71027107G>A	uc003dol.3	-	10	1543	c.1220C>T	c.(1219-1221)cCa>cTa	p.P407L	FOXP1_uc003dom.3_Missense_Mutation_p.P331L|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.P407L|FOXP1_uc003doo.3_Missense_Mutation_p.P407L|FOXP1_uc003dop.3_Missense_Mutation_p.P407L|FOXP1_uc021xao.1_Missense_Mutation_p.P407L|FOXP1_uc003doq.1_Missense_Mutation_p.P406L|FOXP1_uc003doi.3_Missense_Mutation_p.P307L|FOXP1_uc003dok.3_Missense_Mutation_p.P333L|FOXP1_uc003doj.3_Missense_Mutation_p.P409L|FOXP1_uc003dor.1_Missense_Mutation_p.P185L	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	407					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	p.P407A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TGGGGTCGTTGGAGTATGAGG	0.557000			T	PAX5	ALL									156			13		0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56144898	56144898	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:56144898C>T	uc002rzi.3	-	4	920	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	EFEMP1_uc002rzj.3_Missense_Mutation_p.R140Q|EFEMP1_uc010ypc.2_Missense_Mutation_p.R82Q	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	140					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGGTTCCGCCGGATGACAAA	0.582000														99			14		0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80667094	80667094	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:80667094G>A	uc002ffs.3	-	2	761	c.656C>T	c.(655-657)cCa>cTa	p.P219L		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	219						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						CCTCTTCACTGGACTGTGCAG	0.483000														109			35		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059584	11059584	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:11059584C>T	uc010hdq.3	+	3	705	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	98					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TCCCACTCTTCCTGCTGGAGT	0.567000														106			43		0	0	1	0	0
LCN6	158062	broad.mit.edu	37	9	139641983	139641983	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139641983G>A	uc004ciy.2	-	1	168	c.123C>T	c.(121-123)gcC>gcT	p.A41A	LCN10_uc004ciw.3_Non-coding_Transcript|LOC100128593_uc004ciz.1_Non-coding_Transcript	NM_198946	NP_945184	P62502	LCN6_HUMAN	Homo sapiens lipocalin 6 (LCN6), mRNA.	41					single fertilization	extracellular region	binding			lung(3)|upper_aerodigestive_tract(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)		TTTCCCGGGAGGCCACCGCAA	0.637000														48			16		0	0	1	0	0
SSX3	10214	broad.mit.edu	37	X	48213490	48213490	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:48213490C>T	uc004djd.1	-	3	318	c.224G>A	c.(223-225)cGg>cAg	p.R75Q	SSX3_uc004dje.3_Missense_Mutation_p.R75Q|SSX3_uc010nic.3_Missense_Mutation_p.R75Q	NM_021014	NP_066294	Q99909	SSX3_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA.	75	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						GTCTGTGACCCGTTTATTACG	0.483000														100			16		0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40827457	40827457	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:40827457G>A	uc003ayv.1	-	2	298	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	MKL1_uc010gyf.1_Missense_Mutation_p.R31C|MKL1_uc003ayw.1_Missense_Mutation_p.R31C|MKL1_uc010gye.1_Missense_Mutation_p.R31C	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	31	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCCGGGAACGAATCTTCCGT	0.473000			T	RBM15	acute megakaryocytic leukemia									177			94		0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31155153	31155153	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31155153G>A	uc002ebd.3	-	6	785	c.726C>T	c.(724-726)gaC>gaT	p.D242D	PRSS36_uc010vff.2_Silent_p.D17D|PRSS36_uc010vfg.2_Silent_p.D242D|PRSS36_uc010vfh.2_Silent_p.D242D	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	242	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GCCCCCCAGAGTCACCCTAGT	0.597000														53			6		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629474	47629474	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:47629474G>A	uc001rpq.3	+	1	1153	c.628G>A	c.(628-630)Gat>Aat	p.D210N	FAM113B_uc001rpn.3_Missense_Mutation_p.D210N|FAM113B_uc021qxi.1_Missense_Mutation_p.D210N	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	210							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					ACATAACTTCGATGTACTGGA	0.587000														15			9		0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27168522	27168522	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:27168522G>A	uc003xfl.1	-	0	313	c.231C>T	c.(229-231)aaC>aaT	p.N77N	PTK2B_uc003xfn.2_5'Flank|TRIM35_uc010lup.1_Silent_p.N77N|TRIM35_uc003xfm.1_Non-coding_Transcript	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA.	77					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		TCTCCACCAGGTTGTTGAGGG	0.697000														9			5		0	0	1	0	0
AGPAT2	10555	broad.mit.edu	37	9	139571924	139571924	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139571924G>A	uc004cii.1	-	1	369	c.267C>T	c.(265-267)gcC>gcT	p.A89A	AGPAT2_uc004cij.1_Silent_p.A89A	NM_006412	NP_006403	O15120	PLCB_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) (AGPAT2), transcript variant 1, mRNA.	89					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CACAGGGACGGGCCTCCTGCA	0.652000														51			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067623	9067623	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9067623G>A	uc002mkp.3	-	2	20027	c.19823C>T	c.(19822-19824)tCg>tTg	p.S6608L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6610	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						TGGGACAGACGAATAAGATTC	0.443000														214			18		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091331	17091331	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17091331G>A	uc002nfb.3	-	13	1734	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	521						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTGTTAAACGAATCGGTTTC	0.592000														77			16		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1994036	1994036	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:1994036G>A	uc021qsx.1	-	10	1401	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.A309A	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	390	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TTCCTTGCTTGGCCTCTTGGA	0.617000														29			10		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9581067	9581067	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9581067C>T	uc002mlp.1	-	7	658	c.448_splice	c.e7+1	p.G150_splice	ZNF560_uc010dwr.1_Splice_Site_p.G44_splice	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	150	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GCCAGACTTACCTACTGAGGA	0.438000														127			27		0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92905734	92905734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:92905734C>T	uc001yak.3	+	3	397	c.374C>T	c.(373-375)tCt>tTt	p.S125F	SLC24A4_uc001yai.3_Missense_Mutation_p.S61F|SLC24A4_uc010twm.2_Missense_Mutation_p.S125F|SLC24A4_uc010auj.3_Missense_Mutation_p.S16F	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	125						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TTTGTTCCGTCTCTAGAGAAG	0.527000														133			31		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161010697	161010697	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:161010697C>T	uc003qtl.3	-	24	3955	c.3835G>A	c.(3835-3837)Gga>Aga	p.G1279R		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3787	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.G1279G(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TAACTCTGTCCATCACCATGG	0.473000														57			25		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170030620	170030620	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170030620G>A	uc002ues.3	-	55	11036	c.10823C>T	c.(10822-10824)cCa>cTa	p.P3608L		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3608	LDL-receptor class A 28.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCAGGATTCTGGGATGCAACG	0.517000														43			20		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440176	40440176	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:40440176C>T	uc003gvc.2	-	3	1445	c.735G>A	c.(733-735)gtG>gtA	p.V245V	RBM47_uc003gvd.2_Silent_p.V245V|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.V207V|RBM47_uc003gvg.1_Silent_p.V245V	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	245						nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGAGGATCTTCACGGTCTCCA	0.617000														104			43		0	0	1	0	0
IFI27	3429	broad.mit.edu	37	14	94578046	94578046	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94578046C>T	uc021sba.1	+	1	141	c.18C>T	c.(16-18)ctC>ctT	p.L6L	IFI27_uc001ycm.1_Non-coding_Transcript|IFI27_uc001ycn.1_Intron	NM_001130080	NP_001123552	P40305	IFI27_HUMAN	Homo sapiens interferon, alpha-inducible protein 27 (IFI27), transcript variant 1, mRNA.	6					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		CCTCTGCTCTCACCTCATCAG	0.597000														74			11		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110464387	110464387	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110464387G>A	uc003yne.3	+	41	6489	c.6385G>A	c.(6385-6387)Gaa>Aaa	p.E2129K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2129	IPT/TIG 14.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			CACCATAGCTGAAGCCAAATG	0.398000										HNSCC(38;0.096)				28			20		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364370	22364370	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22364370G>A	uc002nqs.1	-	2	467	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	50					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)				AAACTCTTGGGAAAAATGAGA	0.274000														23			13		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92523184	92523184	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92523184G>A	uc001pdj.4	+	6	4428	c.4411G>A	c.(4411-4413)Gag>Aag	p.E1471K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1471	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACAATTTCCGAGGATGTGCT	0.423000										TCGA Ovarian(4;0.039)				99			21		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33560122	33560122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:33560122C>T	uc001rll.1	-	2	976	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	SYT10_uc009zju.1_Missense_Mutation_p.E37K	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	227						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTGACATCTTCGTTTTGGTTG	0.383000														48			18		0	0	1	0	0
BCL2L15	440603	broad.mit.edu	37	1	114424416	114424416	+	Silent	SNP	G	A	A	rs114942995	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:114424416G>A	uc001edw.3	-	2	625	c.453C>T	c.(451-453)ttC>ttT	p.F151F	LOC100287722_uc001edv.1_Intron|BCL2L15_uc001edx.3_Intron|BCL2L15_uc001edy.3_Intron|BCL2L15_uc001edz.1_Non-coding_Transcript	NM_001010922	NP_001010922	Q5TBC7	B2L15_HUMAN	Homo sapiens BCL2-like 15 (BCL2L15), mRNA.	151					apoptosis					breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCCCTGGATGAACTCCCGGA	0.493000														25			6		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43531170	43531170	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43531170G>A	uc001zrd.2	-	8	1198	c.1190C>T	c.(1189-1191)tCg>tTg	p.S397L	TGM5_uc001zrc.2_Missense_Mutation_p.S54L|TGM5_uc001zre.2_Missense_Mutation_p.S315L	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	397					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ATTCACCATCGAAAACACAAA	0.527000														55			14		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32818262	32818262	+	Silent	SNP	C	T	T	rs146000974	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:32818262C>T	uc001utx.3	+	46	7267	c.6771C>T	c.(6769-6771)gtC>gtT	p.V2257V	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACCTTTCTGTCGTTCCTGTCA	0.478000														114			34		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150443463	150443463	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:150443463C>T	uc009wlr.3	+	10	2240	c.2039C>T	c.(2038-2040)cCt>cTt	p.P680L	RPRD2_uc010pcc.1_Missense_Mutation_p.P654L|RPRD2_uc001eup.4_Missense_Mutation_p.P654L	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	680	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AAAGGTAATCCTGGTTTCAGT	0.507000														64			29		0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64026164	64026164	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64026164C>T	uc009ypi.3	+	10	1359	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	PLCB3_uc009ypg.2_Missense_Mutation_p.S411F|PLCB3_uc009yph.2_Missense_Mutation_p.S344F	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	411	PI-PLC X-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						GTCATCCTCTCCTTCGAGAAC	0.612000														53			32		0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47945211	47945211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47945211C>T	uc003gxu.3	-	6	784	c.643G>A	c.(643-645)Gat>Aat	p.D215N	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.D146N|CNGA1_uc003gxv.1_Missense_Mutation_p.D146N	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	146					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	p.D214N(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCtttcttatctttgcttttc	0.328000														37			12		0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421590	115421590	+	Silent	SNP	C	T	T	rs151231750	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:115421590C>T	uc011lwx.1	+	4	1651	c.1476C>T	c.(1474-1476)acC>acT	p.T492T	KIAA1958_uc004bgf.1_Silent_p.T464T	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	464										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TTTATGTCACCGTCAAGAAGA	0.542000														51			33		0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46497339	46497339	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46497339C>T	uc003cpq.3	-	3	687	c.446G>A	c.(445-447)gGg>gAg	p.G149E	LTF_uc003fzr.3_Missense_Mutation_p.G105E|LTF_uc010hjh.3_Missense_Mutation_p.G149E|LTF_uc003cpr.3_Missense_Mutation_p.G136E	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	149	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	ACGAAGTGTCCCTATAGGGAC	0.572000														37			21		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18330167	18330167	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18330167C>T	uc010xqc.2	-	7	1323	c.843G>A	c.(841-843)gaG>gaA	p.E281E	PDE4C_uc002nik.4_Silent_p.E281E|PDE4C_uc002nil.4_Silent_p.E281E|PDE4C_uc002nig.4_Silent_p.E51E|PDE4C_uc002nih.4_Silent_p.E51E|PDE4C_uc010ebk.3_Silent_p.E175E|PDE4C_uc002nii.4_Silent_p.E249E|PDE4C_uc002nif.4_Silent_p.E50E|PDE4C_uc010ebl.3_5'UTR	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	281					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GTGGGGCCTCCTCAGCGGTCA	0.652000														49			10		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47463708	47463708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:47463708G>A	uc003tnw.3	-	9	822	c.464C>T	c.(463-465)tCc>tTc	p.S155F	TNS3_uc010kyo.1_Missense_Mutation_p.S155F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	155	Phosphatase tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCGTTTTTGGGAAGGCTGCAT	0.433000														77			18		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73000453	73000453	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:73000453G>A	uc003pga.3	+	24	3703	c.3626G>A	c.(3625-3627)gGa>gAa	p.G1209E	RIMS1_uc011dyb.2_Intron|RIMS1_uc003pgc.3_Intron|RIMS1_uc010kaq.3_Intron|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Intron|RIMS1_uc011dyd.2_Intron|RIMS1_uc003pge.3_Intron|RIMS1_uc003pgf.3_Intron|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Intron|RIMS1_uc011dye.2_Intron|RIMS1_uc011dyf.2_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1209					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTCATTAGGGGAAAACATCCT	0.517000														23			4		0	0	1	0	0
NR4A1	3164	broad.mit.edu	37	12	52451238	52451238	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52451238C>T	uc001rzs.3	+	6	1783	c.1464C>T	c.(1462-1464)gcC>gcT	p.A488A	NR4A1_uc010sno.2_Silent_p.A501A|NR4A1_uc001rzt.3_Silent_p.A488A|NR4A1_uc009zmc.3_Missense_Mutation_p.P102L	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	488					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GTATCCTGGCCTTCTCAAGGT	0.612000														56			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452474	179452474	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179452474C>T	uc021vsy.1	-	254	56083	c.55858G>A	c.(55858-55860)Gca>Aca	p.A18620T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A12315T|TTN_uc021vta.1_Missense_Mutation_p.A12248T|TTN_uc021vtb.1_Missense_Mutation_p.A12123T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19547	Fibronectin type-III 34.						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)			GGGCATCCTGCTCTCACTATG	0.443000														36			12		0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30202214	30202214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:30202214G>A	uc003agr.3	-	11	1295	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L	ASCC2_uc011akr.2_Missense_Mutation_p.S308L|ASCC2_uc003ags.3_Non-coding_Transcript	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CAAGACTGATGAGGCCTGCTG	0.567000														60			26		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348124	140348124	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140348124C>T	uc003lii.3	+	0	2378	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.F591F	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	591					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)			CAGCAGCCTTCGAGATGGTGC	0.517000														33			19		0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55860969	55860969	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55860969C>T	uc010rix.2	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGTACTTTTTCCTGAGCAATT	0.383000														243			49		0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48580147	48580147	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:48580147G>A	uc002efp.3	-	5	2481	c.2244C>T	c.(2242-2244)ttC>ttT	p.F748F		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Homo sapiens NEDD4 binding protein 1 (N4BP1), mRNA.	748					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	PML body|nucleolus				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TGTCCCCCACGAACGTGTACT	0.517000														87			6		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50794294	50794294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50794294C>T	uc010enu.1	+	35	5163	c.5116C>T	c.(5116-5118)Cgc>Tgc	p.R1706C	MYH14_uc002prq.1_Missense_Mutation_p.R1673C|MYH14_uc002prr.1_Missense_Mutation_p.R1665C|MYH14_uc010ycb.2_Missense_Mutation_p.R16C|MYH14_uc002prs.1_Missense_Mutation_p.R16C	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1665					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GAAGCAGCTTCGCAAGATGCA	0.642000														13			11		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595640	140595640	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140595640G>A	uc003lja.1	+	0	2132	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	649	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACAATGGCGAGCCTCCGCG	0.726000														54			26		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122759247	122759247	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:122759247G>A	uc003vkm.3	-	12	1425	c.1400C>T	c.(1399-1401)tCa>tTa	p.S467L	SLC13A1_uc010lks.3_Missense_Mutation_p.S343L	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	467						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TGCTGGTAATGAACCCAGAGG	0.343000														58			16		0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12384283	12384283	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12384283G>A	uc010xmj.2	-	4	1136	c.931C>T	c.(931-933)Cct>Tct	p.P311S	ZNF44_uc002mtl.3_Intron|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Missense_Mutation_p.P263S	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA.	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CTGTAATCAGGGAAGGCTTTA	0.408000														169			59		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	121960374	121960374	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:121960374G>A	uc022akp.1	-	28	4158	c.3736C>T	c.(3736-3738)Cga>Tga	p.R1246*	CADPS2_uc003vkg.4_Nonsense_Mutation_p.R900*|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Nonsense_Mutation_p.R1205*|CADPS2_uc022akr.1_Nonsense_Mutation_p.R1246*	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	1246					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	p.R1243*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CCCTGCAATCGAAAGTCCCTG	0.398000														144			57		0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7949293	7949293	+	Missense_Mutation	SNP	C	T	T	rs148940548	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7949293C>T	uc010rbh.2	-	0	917	c.917G>A	c.(916-918)cGa>cAa	p.R306Q		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACTCGCCTTCGCCATAATTT	0.373000														100			45		0	0	1	0	0
CD27	939	broad.mit.edu	37	12	6554699	6554699	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6554699G>A	uc001qod.3	+	1	457	c.246G>A	c.(244-246)gaG>gaA	p.E82E	CD27-AS1_uc001qob.2_Intron|CD27-AS1_uc009zel.1_Intron	NM_001242	NP_001233	P26842	CD27_HUMAN	Homo sapiens CD27 molecule (CD27), mRNA.	82					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						CCCACTGTGAGAGCTGTCGGC	0.597000														41			6		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099865	50099865	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50099865C>T	uc002poo.4	+	3	2273	c.2273C>T	c.(2272-2274)gCc>gTc	p.A758V		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	466							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GAGCTGGGGGCCTTCTTGCAA	0.687000														19			9		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656881	40656881	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:40656881G>A	uc002rrx.3	-	0	564	c.540C>T	c.(538-540)ttC>ttT	p.F180F	SLC8A1_uc002rry.3_Silent_p.F180F|SLC8A1_uc002rsb.2_Silent_p.F180F|SLC8A1_uc002rrz.3_Silent_p.F180F|SLC8A1_uc002rsa.3_Silent_p.F180F|SLC8A1_uc002rsd.4_Silent_p.F180F|SLC8A1_uc010fan.1_Silent_p.F180F|SLC8A1_uc002rsc.1_Silent_p.F180F	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	180					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAATAATGATGAACATATTGA	0.463000														50			16		0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55652961	55652961	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55652961G>A	uc010rip.2	+	1	149	c.57G>A	c.(55-57)atG>atA	p.M19I	TRIM51_uc010riq.2_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	19						intracellular	zinc ion binding										CCATCTGCATGAACTACTTCC	0.502000														99			41		0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203690	5203690	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:5203690C>T	uc009xhz.2	-	3		c.502G>A								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TTTTGGCAATCCTATGCACCT	0.418000														104			29		0	0	1	0	0
BANF2	140836	broad.mit.edu	37	20	17705763	17705763	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:17705763C>T	uc010zrs.1	+	1	128	c.114C>T	c.(112-114)ctC>ctT	p.L38L	BANF2_uc002wqa.2_Silent_p.L31L|BANF2_uc002wpz.2_Silent_p.L31L	NM_001159495	NP_848572	Q9H503	BAFL_HUMAN	Homo sapiens barrier to autointegration factor 2 (BANF2), transcript variant 3, mRNA.	31						cytoplasm|nucleus	DNA binding			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						GCCATGAGCTCGCGATCAATT	0.493000														88			19		0	0	1	0	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086747	46086747	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46086747G>A	uc002zfu.3	-	0	98	c.57C>T	c.(55-57)ccC>ccT	p.P19P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	Homo sapiens keratin associated protein 12-2 (KRTAP12-2), mRNA.	19	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						CTGGCTGGCAGGGGCTGGGCG	0.657000														25			8		0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42747230	42747230	+	Silent	SNP	C	T	T	rs138017620		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42747230C>T	uc002xli.1	-	2	2076	c.1203G>A	c.(1201-1203)gcG>gcA	p.A401A		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	401	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGCCTGTTCCGCTGCCTCAG	0.617000														149			33		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424120	56424120	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56424120G>A	uc010ygg.2	-	4	1088	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	355	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTAGCCAGGGGAACCAATTCT	0.473000														84			35		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120876350	120876350	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:120876350G>A	uc003eec.4	+	9	894	c.754_splice	c.e9-1	p.A252_splice	STXBP5L_uc011bji.2_Splice_Site_p.A252_splice	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	252					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TATTTTATTAGGCTATTCATT	0.328000														49			15		0	0	1	0	0
CLDN19	149461	broad.mit.edu	37	1	43203960	43203960	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:43203960G>A	uc001cht.1	-	2	604	c.413C>T	c.(412-414)tCg>tTg	p.S138L	CLDN19_uc001chu.2_Missense_Mutation_p.S138L|CLDN19_uc010ojv.1_Intron	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA.	138					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCATACCACGAGACAGCAGT	0.612000														71			15		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458025	120458025	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:120458025G>A	uc001eik.3	-	33	7617	c.7320C>T	c.(7318-7320)acC>acT	p.T2440T		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2440					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGGGCTGGTGGTCACATCTG	0.582000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					110			22		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784321	9784321	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:9784321G>A	uc003gmb.4	+	0	1064	c.668G>A	c.(667-669)cGa>cAa	p.R223Q		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	223					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.R223Q(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AGCCTGAATCGAACCTACGCC	0.582000														91			31		0	0	1	0	0
FAM86FP	653113	broad.mit.edu	37	12	8386984	8386984	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8386984G>A	uc010sgk.2	-	3		c.472C>T								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		GCAGGACCCCGACCAGCGACA	0.587000														65			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057713	9057713	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9057713C>T	uc002mkp.3	-	2	29937	c.29733G>A	c.(29731-29733)atG>atA	p.M9911I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9913	Ser-rich.|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						TGATTTCTGTCATGGAGACTT	0.468000														167			12		0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29793279	29793279	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29793279G>A	uc002kxj.4	+	10	1383	c.1336G>A	c.(1336-1338)Gga>Aga	p.G446R		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	446	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CAGCCCAAATGGAACTCTGTA	0.408000														26			13		0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65541092	65541092	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:65541092G>A	uc002sdr.4	-	5	1335	c.800C>T	c.(799-801)cCc>cTc	p.P267L	SPRED2_uc010fcw.3_Missense_Mutation_p.P264L	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	267					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GTCCACGTAGGGGTAGTTGTA	0.682000														84			34		0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120438714	120438714	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:120438714C>T	uc021vnk.1	+	0	285	c.285C>T	c.(283-285)ttC>ttT	p.F95F	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Silent_p.F95F|TMEM177_uc002tmc.1_Silent_p.F95F|TMEM177_uc002tmd.2_Silent_p.F95F|TMEM177_uc010flh.3_Intron	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	95						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GTGCAGGCTTCCCAAGACTCC	0.547000														235			111		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38830179	38830179	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38830179C>T	uc021yzh.1	+	43	6364	c.6255C>T	c.(6253-6255)gtC>gtT	p.V2085V	DNAH8_uc003ooe.2_Silent_p.V1868V	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AATATGTGGTCGTGTTCAATT	0.423000														129			43		0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47283522	47283522	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:47283522C>T	uc009ylm.3	+	6	1191	c.941C>T	c.(940-942)aCc>aTc	p.T314I	NR1H3_uc010rhk.2_Missense_Mutation_p.T320I|NR1H3_uc009yll.2_Missense_Mutation_p.T320I|NR1H3_uc001nek.3_Missense_Mutation_p.T269I|NR1H3_uc001nen.4_Missense_Mutation_p.T254I|NR1H3_uc001nem.3_Missense_Mutation_p.T314I	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA.	314	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GAGAGTATCACCTTCCTCAAG	0.507000														92			66		0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119958174	119958174	+	Silent	SNP	G	A	A	rs111333222	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:119958174G>A	uc001ehs.3	+	0	905	c.132G>A	c.(130-132)gaG>gaA	p.E44E	HSD3B2_uc021ost.1_Silent_p.E44E|HSD3B2_uc001eht.3_Silent_p.E44E|HSD3B2_uc001ehu.3_Silent_p.E44E	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	44					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	AATTGAGAGAGGAATTTTCTA	0.498000														102			41		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70926127	70926127	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70926127G>A	uc021rvq.1	+	0	1911	c.1911G>A	c.(1909-1911)gaG>gaA	p.E637E	ADAM21_uc001xmd.3_Silent_p.E637E	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	637	EGF-like.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCCTTCCTGAGACCTGCAATA	0.507000														65			26		0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676126	123676126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123676126C>T	uc010rzz.2	-	0	932	c.932G>A	c.(931-933)aGg>aAg	p.R311K		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TCAAGTTTTCCTTTGTATCAA	0.378000														129			10		0	0	1	0	0
FKBP9L	360132	broad.mit.edu	37	7	55755518	55755519	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55755518_55755519CC>TT	uc010kzl.3	-	3	474_475	c.374_375GG>AA	c.(373-375)cgg>cAA	p.R125Q	FKBP9L_uc010kzk.3_Missense_Mutation_p.R14Q|FKBP9L_uc003tqt.3_Missense_Mutation_p.R14Q|FKBP9L_uc011kcs.2_Missense_Mutation_p.R14Q					Homo sapiens FK506 binding protein 9-like (FKBP9L), transcript variant 4, non-coding RNA.											endometrium(1)|kidney(1)|lung(3)	5						TGATCACTGTCCGTTTCTCGCC	0.515000														59			17		0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56511255	56511255	+	Silent	SNP	G	A	A	rs61735257	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56511255G>A	uc010rjo.2	-	0	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCACGGAGGTGAAAGCCTGAC	0.413000														98			35		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276853	15276853	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15276853C>T	uc002nan.3	-	29	5488	c.5412G>A	c.(5410-5412)gaG>gaA	p.E1804E		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1804					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TTGGCATTGGCTCCAGAGCCC	0.577000														48			22		0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210414947	210414947	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:210414947C>T	uc001hhy.3	+	3	515	c.336C>T	c.(334-336)tcC>tcT	p.S112S	SERTAD4_uc009xcw.3_Silent_p.S112S	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	112	SERTA.						protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TTTATATGTCCTTAGAAAAGC	0.338000														113			23		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49697935	49697935	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49697935C>T	uc003cxe.4	+	5	8771	c.8657C>T	c.(8656-8658)cCc>cTc	p.P2886L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2886					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCGTTGCCACCCAACAGCCTG	0.657000														141			40		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	176580	176580	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:176580G>A	uc001qhw.2	+	0	532	c.532G>A	c.(532-534)Ggc>Agc	p.G178S		NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	178					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCTCGGCAAGGGCGTCCTGAG	0.647000														31			5		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30966408	30966408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:30966408G>A	uc021vfn.1	-	11	1318	c.1286C>T	c.(1285-1287)tCg>tTg	p.S429L	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.S425L|CAPN13_uc002rno.3_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	429					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GTTTCTGAACGAGGAAAAAAA	0.473000														88			10		0	0	1	0	0
KHDC1L	100129128	broad.mit.edu	37	6	73935101	73935101	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:73935101C>T	uc003pgm.4	-	0	75	c.31G>A	c.(31-33)Gag>Aag	p.E11K	KHDC1_uc011dyl.1_Non-coding_Transcript	NM_001126063	NP_001119535	Q5JSQ8	KHDCL_HUMAN	Homo sapiens KH homology domain containing 1-like (KHDC1L), mRNA.	11										breast(1)|endometrium(1)|kidney(1)|lung(3)|skin(1)	7						CACCACGGCTCCTTGCTGAGA	0.537000														48			8		0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62407280	62407280	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62407280C>T	uc002ygv.2	-	2	1174	c.973G>A	c.(973-975)Gac>Aac	p.D325N	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCTCGGCTGTCGGAGCTGCTG	0.637000														54			29		0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61778959	61778959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:61778959C>T	uc011cqr.2	+	9	1110	c.980C>T	c.(979-981)tCa>tTa	p.S327L	IPO11_uc003jtc.3_Missense_Mutation_p.S287L	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	287						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CATCCTTTTTCATTTACTCCT	0.308000														48			33		0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135554457	135554457	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135554457C>T	uc010mzv.3	+	1	1709	c.1451C>T	c.(1450-1452)cCc>cTc	p.P484L	GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	484					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GCAGTGAGCCCCTGCGGTGCA	0.473000														77			7		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74092095	74092095	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:74092095C>T	uc021ulp.1	-	3	2293	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTAGAAGTCTCTCTGCTACTG	0.522000														51			24		0	0	1	0	0
CRH	1392	broad.mit.edu	37	8	67089149	67089149	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:67089149C>T	uc022avj.1	-	0	564	c.564G>A	c.(562-564)agG>agA	p.R188R	CRH_uc003xvy.2_Silent_p.R188R	NM_000756	NP_000747	P06850	CRF_HUMAN	Homo sapiens corticotropin releasing hormone (CRH), mRNA.	188					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	CCATGAGTTTCCTGTTGCTGT	0.453000											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			23		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23814665	23814665	+	Missense_Mutation	SNP	G	A	A	rs149856244		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:23814665G>A	uc003gqs.3	-	8	1997	c.1877C>T	c.(1876-1878)tCg>tTg	p.S626L	PPARGC1A_uc003gqt.3_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	626	Arg/Ser-rich.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding	p.S626L(2)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GCTGTAGGGCGATCTTGAACG	0.493000														119			64		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065373	35065373	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35065373C>T	uc003jjm.3	-	9	2246	c.1687G>A	c.(1687-1689)Gat>Aat	p.D563N	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.D462N|PRLR_uc021xxl.1_3'UTR	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	563					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCATGTGGATCTGGCACCAAC	0.517000														55			12		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587019	15587019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15587019G>A	uc002nbg.3	-	1	595	c.462C>T	c.(460-462)acC>acT	p.T154T	PGLYRP2_uc002nbf.4_Silent_p.T154T	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	154					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CATCTGGAAAGGTATCTCCAG	0.587000														82			17		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130287237	130287237	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130287237G>A	uc010htl.3	+	4	2221	c.2190G>A	c.(2188-2190)acG>acA	p.T730T		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	730	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCTCATCACGGATGGTGAAG	0.517000														83			14		0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573977	64573977	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:64573977G>A	uc010qio.2	-	2	480	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	EGR2_uc010qim.2_Missense_Mutation_p.P141S|EGR2_uc010qin.2_Missense_Mutation_p.P91S|EGR2_uc001jmi.3_Missense_Mutation_p.P141S|EGR2_uc009xph.3_Missense_Mutation_p.P141S	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	141					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.T153A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGTGGGTTGGGGGAGGCAGAG	0.597000														61			15		0	0	1	0	0
SLC23A1	9963	broad.mit.edu	37	5	138716319	138716319	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:138716319C>T	uc003leg.3	-	4	497	c.400G>A	c.(400-402)Gag>Aag	p.E134K	SLC23A1_uc003leh.3_Missense_Mutation_p.E134K	NM_152685	NP_689898	Q9UHI7	S23A1_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 1 (SLC23A1), transcript variant 2, mRNA.	134					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	L-ascorbate:sodium symporter activity|dehydroascorbic acid transporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CCGTAGATCTCCTCTGGGGGT	0.567000														45			25		0	0	1	0	0
GJB2	2706	broad.mit.edu	37	13	20763615	20763615	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:20763615G>A	uc001umy.3	-	1	321	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F	GJB2_uc021rha.1_Missense_Mutation_p.L36F	NM_004004	NP_003995	P29033	CXB2_HUMAN	Homo sapiens gap junction protein, beta 2, 26kDa (GJB2), mRNA.	36					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	ER-Golgi intermediate compartment|connexon complex|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		GCCACAACGAGGATCATAATG	0.542000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			30		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26619945	26619945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:26619945G>A	uc001mqt.4	+	14	1626	c.1481G>A	c.(1480-1482)aGg>aAg	p.R494K	ANO3_uc010rdr.2_Missense_Mutation_p.R478K|ANO3_uc010rds.2_Missense_Mutation_p.R333K|ANO3_uc010rdt.2_Missense_Mutation_p.R348K	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	494						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AAAAGGAGAAGGAGTATACTG	0.353000														119			10		0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78778131	78778131	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:78778131T>C	uc002bdr.2	+	12	1820	c.1658T>C	c.(1657-1659)gTt>gCt	p.V553A	IREB2_uc010unb.1_Missense_Mutation_p.V303A	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	553							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AGTGGGATGGTTACACATTAC	0.403000														151			149		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19460865	19460865	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19460865G>A	uc002dgc.4	+	5	1708	c.959_splice	c.e5-1	p.V320_splice	TMC5_uc010vaq.2_Splice_Site_p.V320_splice|TMC5_uc002dgb.4_Splice_Site_p.V320_splice|TMC5_uc010var.2_Splice_Site_p.V320_splice	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	320						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						TCCCTCCAGTGAACCCTGCTT	0.463000														122			31		0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70605012	70605012	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:70605012C>T	uc002ezf.3	+	24	3634	c.3423C>T	c.(3421-3423)ttC>ttT	p.F1141F		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	1141					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				ATGACTTCTTCCAGCATGTGG	0.498000														136			51		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7675417	7675417	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7675417C>T	uc002mgu.4	+	7	998	c.897C>T	c.(895-897)ctC>ctT	p.L299L	CAMSAP3_uc002mgv.4_Silent_p.L272L	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	272	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						ACCTCCAGCTCGTGCAGGATT	0.612000														158			53		0	0	1	0	0
NEK3	4752	broad.mit.edu	37	13	52718862	52718862	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:52718862G>A	uc001vgh.3	-	7	2062	c.831C>T	c.(829-831)atC>atT	p.I277I	NEK3_uc001vgi.3_Silent_p.I256I|NEK3_uc010tgx.2_Non-coding_Transcript|NEK3_uc010tgy.2_Silent_p.I256I	NM_001146099	NP_001139571	P51956	NEK3_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 3 (NEK3), transcript variant 3, mRNA.	256	Interaction with VAV2.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		GCCGAGCTACGATGCCTCGAG	0.463000														32			9		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699232	43699232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43699232C>T	uc002ovy.3	-	3	1005	c.903G>A	c.(901-903)acG>acA	p.T301T	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Silent_p.T208T	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	301	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region		p.T301T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TTTCATTTCTCGTGACATTGG	0.478000														301			35		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55012616	55012616	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:55012616G>A	uc002xxp.2	+	2	658	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	CASS4_uc002xxq.4_Missense_Mutation_p.E145K|CASS4_uc010zze.1_Intron|CASS4_uc002xxr.2_Missense_Mutation_p.E145K|CASS4_uc010gio.2_Missense_Mutation_p.E145K	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	145					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AATCATCTGTGAAAAGACTCT	0.537000														85			59		0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31712336	31712336	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:31712336C>T	uc021wuu.1	-	8	2537	c.1866G>A	c.(1864-1866)gcG>gcA	p.A622A	OSBPL10_uc003ceu.1_Silent_p.A379A|OSBPL10_uc011axf.2_Silent_p.A558A	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	622					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ATATCACTGTCGCTGAGTACC	0.547000														98			44		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75065531	75065531	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75065531C>T	uc001dgg.3	-	10	1793	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.G319E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	525	Glu-rich.							p.N524S(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						CTGCGGTATTCCATTCATTTG	0.388000														167			61		0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	517561	517561	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:517561C>T	uc003gak.4	+	8	2064	c.1928C>T	c.(1927-1929)tCc>tTc	p.S643F	PIGG_uc003gaj.4_Missense_Mutation_p.S635F|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Missense_Mutation_p.S510F|PIGG_uc003gal.4_Missense_Mutation_p.S554F	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	643					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CCCTCTACCTCCGAAGTGCTC	0.637000														48			15		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26822398	26822398	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:26822398G>A	uc001iss.3	+	8	1165	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	APBB1IP_uc009xks.1_Missense_Mutation_p.E282K	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	282					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGGAAAAAAAGAAAGCAAGGA	0.343000														47			9		0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148796219	148796219	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:148796219G>A	uc004fdq.3	+	2	330	c.175G>A	c.(175-177)Gat>Aat	p.D59N	MAGEA11_uc004fdr.3_Missense_Mutation_p.D30N	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	59						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GTGGTCCCAGGATCTGCCAAG	0.532000														3			16		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940609	144940609	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144940609G>A	uc003zaa.1	-	0	6826	c.6813C>T	c.(6811-6813)ttC>ttT	p.F2271F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2271						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.G2270S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTCGATGACGAAGCCGGTGG	0.716000														48			4		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166850864	166850864	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166850864C>T	uc002udo.4	-	26	4871	c.4644G>A	c.(4642-4644)atG>atA	p.M1548I	SCN1A_uc010fpk.3_Missense_Mutation_p.M1520I|SCN1A_uc021vsb.1_Missense_Mutation_p.M1537I	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1548						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGATGAGAATCATGATGCTTA	0.368000														41			15		0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116779058	116779058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116779058C>T	uc004bid.3	+	9	937	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	ZNF618_uc004bib.1_Missense_Mutation_p.P248S|ZNF618_uc004bic.3_Missense_Mutation_p.P268S|ZNF618_uc011lxi.2_Missense_Mutation_p.P248S|ZNF618_uc011lxj.2_Missense_Mutation_p.P248S	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CTTACACGCCCCCATCAGTGA	0.577000														14			8		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21217065	21217065	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21217065G>A	uc003zor.1	-	0	246	c.240C>T	c.(238-240)ttC>ttT	p.F80F	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	80					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TCATCTCATGGAAGGCAGAGA	0.473000														119			61		0	0	1	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90673158	90673158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:90673158C>T	uc001kfk.3	+	5	1144	c.721C>T	c.(721-723)Cac>Tac	p.H241Y	STAMBPL1_uc010qmx.1_Missense_Mutation_p.H241Y|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Missense_Mutation_p.H241Y|STAMBPL1_uc001kfn.3_Missense_Mutation_p.H75Y	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.	241							metal ion binding|metallopeptidase activity|protein binding	p.S240N(1)		breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TTATGCTAGCCACTCTCCTCC	0.463000														89			46		0	0	1	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20474748	20474748	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:20474748C>T	uc009vpp.1	+	4	588	c.490C>T	c.(490-492)Ctc>Ttc	p.L164F		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA.	121					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GGTTCTGTGCCTCATGAACCA	0.557000														116			14		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861758	52861758	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:52861758C>G	uc003gzi.3	-	3	1437	c.1430G>C	c.(1429-1431)aGg>aCg	p.R477T		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	477						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTTTCTGCTCCTTCCCAGAGT	0.542000														89			27		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158291210	158291210	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:158291210C>T	uc002tzj.1	-	2	296	c.224_splice	c.e2+1	p.R75_splice	CYTIP_uc010zcl.1_Splice_Site	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	75					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						ATCTCTTTACCTTTGAGACCA	0.378000														28			8		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17104380	17104380	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17104380G>A	uc002nfb.3	-	11	1285	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	371						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCTGCCATCGGGGTAGGATAG	0.532000														55			15		0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15132675	15132675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15132675C>T	uc002nae.2	+	5	1294	c.1195C>T	c.(1195-1197)Cgc>Tgc	p.R399C		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	399					microtubule cytoskeleton organization	microtubule		p.R399H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						ACCCCTGGTTCGCATGTACCA	0.637000														58			33		0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505396	159505396	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159505396G>A	uc010piw.2	-	0	402	c.402C>T	c.(400-402)gtC>gtT	p.V134V		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TGCTCATGATGACAGTGTATC	0.483000														83			38		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179580269	179580269	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179580269G>A	uc021vsy.1	-	85	22365	c.22140C>T	c.(22138-22140)gcC>gcT	p.A7380A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.A4041A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8307	Ig-like 55.						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)			CTGCATTGTGGGCCTCACAGG	0.478000														78			5		0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41211272	41211272	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41211272G>A	uc002oor.2	-	5	750	c.448C>T	c.(448-450)Cga>Tga	p.R150*	ADCK4_uc002ooq.2_Intron|ADCK4_uc002oos.2_Nonsense_Mutation_p.R150*	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	150						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCGGCCCCTCGAACTGTACAT	0.607000														52			27		0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122774731	122774731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:122774731C>T	uc001pym.3	+	2	740	c.443C>T	c.(442-444)cCg>cTg	p.P148L	C11orf63_uc001pyl.1_Missense_Mutation_p.P148L	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	148								p.P148S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAAGCGTTGCCGGAGTCCACG	0.527000														143			49		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196642613	196642613	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196642613G>A	uc002utj.4	-	58	11076	c.10975C>T	c.(10975-10977)Cta>Tta	p.L3659L	DNAH7_uc002uti.4_Silent_p.L142L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3659					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATTTGTTTAGAATGCTGCGC	0.473000														60			23		0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108339003	108339003	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:108339003G>A	uc001kyl.3	-	25	3560	c.3378C>T	c.(3376-3378)atC>atT	p.I1126I	SORCS1_uc021pxw.1_Silent_p.I1126I|SORCS1_uc009xxs.3_Intron|SORCS1_uc001kym.3_Intron|SORCS1_uc001kyn.2_Silent_p.I1126I|SORCS1_uc001kyo.3_3'UTR	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	1126						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TAATCCCCGGGATCTTCCTAA	0.468000														168			41		0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25004683	25004683	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:25004683G>A	uc001mqs.3	+	8	883	c.609G>A	c.(607-609)atG>atA	p.M203I	LUZP2_uc009yif.3_Missense_Mutation_p.M117I|LUZP2_uc009yig.3_Missense_Mutation_p.M161I	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	203						extracellular region		p.Q202*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGTCACAGATGAAAGCAATGA	0.408000														138			60		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519328	113519328	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:113519328C>T	uc010ljy.1	-	3	1850	c.1819G>A	c.(1819-1821)Ggc>Agc	p.G607S		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	607					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAAGCGCTGCCTTCACTAGTC	0.423000														165			56		0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1038576	1038576	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:1038576C>T	uc001ift.3	+	1	267	c.196C>T	c.(196-198)Cta>Tta	p.L66L	GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc010qad.2_5'UTR|GTPBP4_uc010qae.2_Silent_p.L19L	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	66					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TTCACAAATTCTAACAGATTT	0.348000														29			11		0	0	1	0	0
MAOA	4128	broad.mit.edu	37	X	43571145	43571145	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:43571145C>T	uc004dfy.3	+	3	514	c.333C>T	c.(331-333)gcC>gcT	p.A111A	MAOA_uc011mkw.2_5'UTR	NM_000240	NP_000231	P21397	AOFA_HUMAN	Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA.	111					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	TTCGGGGCGCCTTTCCACCAG	0.363000														43			38		0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211041	59211041	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59211041C>T	uc001nnx.1	+	0	400	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CAGCCCCCTTCTCTACCCCAC	0.547000														278			72		0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	110065788	110065788	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:110065788C>T	uc010ywt.1	+	7	1991	c.1991C>T	c.(1990-1992)cCg>cTg	p.P664L		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	664							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TGCCCACGGCCGGCCATCCCC	0.677000														17			5		0	0	1	0	0
TCP10	6953	broad.mit.edu	37	6	167796359	167796359	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:167796359C>T	uc003qvv.1	-	1	215	c.3G>A	c.(1-3)atG>atA	p.M1I	TCP10_uc003qvu.3_Missense_Mutation_p.M1I|TCP10_uc003qvw.3_Intron	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	28						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GTGTCTTCTCCATGGCAGCCC	0.662000														10			5		0	0	1	0	0
STYXL1	51657	broad.mit.edu	37	7	75634657	75634657	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:75634657G>A	uc003uel.3	-	5	862	c.519C>T	c.(517-519)ttC>ttT	p.F173F	STYXL1_uc003uef.3_5'UTR|STYXL1_uc011kgg.2_Silent_p.F25F|STYXL1_uc003ueh.3_Silent_p.F35F|STYXL1_uc011kgf.2_Silent_p.F35F|STYXL1_uc003uek.4_Silent_p.F77F|STYXL1_uc003uem.3_Silent_p.F173F|STYXL1_uc010ldg.2_Non-coding_Transcript|STYXL1_uc010ldh.2_Silent_p.F173F|STYXL1_uc003uen.1_Silent_p.F173F	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	Homo sapiens serine/threonine/tyrosine interacting-like 1 (STYXL1), mRNA.	173	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						AGGCTTGACTGAAATTGCCAA	0.468000														87			33		0	0	1	0	0
NPPA	4878	broad.mit.edu	37	1	11907192	11907193	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11907192_11907193CC>TT	uc001ati.3	-	1	526_527	c.427_428GG>AA	c.(427-429)gga>AAa	p.G143K	CLCN6_uc010oba.1_Intron|CLCN6_uc010oav.1_Intron|CLCN6_uc010oay.1_Intron|CLCN6_uc010oax.1_Intron|CLCN6_uc010oaw.1_Intron|CLCN6_uc010oaz.1_Intron	NM_006172	NP_006163	P01160	ANF_HUMAN	Homo sapiens natriuretic peptide A (NPPA), mRNA.	143					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGCCCAGTCCGCTCTGGGCT	0.594000														301			128		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119770494	119770494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:119770494C>T	uc004bjt.2	-	5	1416	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N	ASTN2_uc022bml.1_Missense_Mutation_p.D139N|ASTN2_uc022bmm.1_Missense_Mutation_p.D139N	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	490						integral to membrane		p.D439N(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTTAACCAGTCGGAGATGTCC	0.507000														50			15		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35667306	35667306	+	Missense_Mutation	SNP	G	A	A	rs144477950		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35667306G>A	uc003jjo.3	+	8	1411	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	SPEF2_uc003jjn.1_Missense_Mutation_p.D434N|SPEF2_uc003jjq.4_Missense_Mutation_p.D434N	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	434					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAAATTTTGGATCAAATAGT	0.328000														38			17		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79579761	79579761	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:79579761G>A	uc001jzk.3	-	15	3488	c.3418C>T	c.(3418-3420)Ccg>Tcg	p.P1140S	DLG5_uc001jzi.3_5'UTR|DLG5_uc001jzj.3_Missense_Mutation_p.P555S|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.P744S	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1140					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	p.P1140Q(1)		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)			CCACTGGCCGGGACACACTTC	0.607000														76			19		0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114196635	114196635	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:114196635C>T	uc001edk.3	+	14	2805	c.2624C>T	c.(2623-2625)cCa>cTa	p.P875L	MAGI3_uc001edh.3_Missense_Mutation_p.P900L|MAGI3_uc001edi.4_Missense_Mutation_p.P875L|MAGI3_uc010owm.2_Missense_Mutation_p.P900L|MAGI3_uc001edj.3_Missense_Mutation_p.P596L	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	900					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAACCACCTCCAGGAGGTAAG	0.448000														223			59		0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6232963	6232963	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6232963G>A	uc001mck.4	-	11	3093	c.2734C>T	c.(2734-2736)Cct>Tct	p.P912S	FAM160A2_uc001mcl.4_Missense_Mutation_p.P898S	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	898					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAAGCCCCAGGGGAGCCCCCA	0.622000														99			6		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69699681	69699681	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:69699681G>A	uc010lyz.3	+	11	1750	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	C8orf34_uc003xyb.3_Missense_Mutation_p.E376K	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	401					signal transduction		cAMP-dependent protein kinase regulator activity	p.E376K(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TTTGCAGGATGAATCCTTAAA	0.358000														25			6		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116429583	116429583	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:116429583G>A	uc001tvw.3	-	16	3231	c.3176C>T	c.(3175-3177)aCt>aTt	p.T1059I		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1059					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACCTCTGGGAGTTCTTGGGGT	0.612000														75			24		0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89036161	89036161	+	Silent	SNP	G	A	A	rs144639395		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:89036161G>A	uc003hrg.3	-	7	1384	c.891C>T	c.(889-891)atC>atT	p.I297I	ABCG2_uc003hrh.3_Silent_p.I297I|ABCG2_uc003hrf.3_Silent_p.I167I	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	297					cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CTCCATTAATGATGTCCAAGA	0.383000														63			13		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62995958	62995958	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62995958T>G	uc001nwr.1	-	1	481	c.481A>C	c.(481-483)Aac>Cac	p.N161H	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.N161H	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	161					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CCATATAGGTTGCCTCCCACC	0.408000														66			25		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117251691	117251691	+	Missense_Mutation	SNP	C	T	T	rs78194216		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:117251691C>T	uc003vjd.3	+	19	3328	c.3196C>T	c.(3196-3198)Cgt>Tgt	p.R1066C	CFTR_uc011knq.2_Missense_Mutation_p.R472C	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1066	ABC transmembrane type-1 2.		R -> C (in CF).|R -> H (in CF).|R -> L (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ATGGACACTTCGTGCCTTCGG	0.413000									Cystic Fibrosis					34			15		0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27374045	27374046	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:27374045_27374046CC>TT	uc002don.3	+	10	1614_1615	c.1372_1373CC>TT	c.(1372-1374)ccc>TTc	p.P458F	IL4R_uc002dop.4_Missense_Mutation_p.P443F|IL4R_uc010bxy.3_Missense_Mutation_p.P458F|IL4R_uc002doo.3_Missense_Mutation_p.P298F	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	458	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGAGGCACCTCCCTGGGGCAAG	0.624000														69			17		0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58196037	58196037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:58196037C>T	uc001sqj.2	-	15	2086	c.2057G>A	c.(2056-2058)cGa>cAa	p.R686Q	TSFM_uc021qzq.1_Intron|AVIL_uc009zqe.2_Missense_Mutation_p.R679Q|AVIL_uc001sqk.1_Missense_Mutation_p.R264Q	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	686	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GTCGGGATCTCGGCCGCTGGG	0.557000														26			19		0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53740812	53740812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53740812G>A	uc002qbg.1	-	4	1319	c.1168C>T	c.(1168-1170)Ctt>Ttt	p.L390F	ZNF677_uc002qbf.1_Missense_Mutation_p.L390F	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TGTTGGGTAAGGCTTGAACGT	0.413000														90			11		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766216	77766216	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:77766216G>A	uc003yau.2	+	9	7446	c.7059G>A	c.(7057-7059)atG>atA	p.M2353I	ZFHX4_uc003yaw.1_Missense_Mutation_p.M2308I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2308	Pro-rich.					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)			AAGACTCCATGGATGCCACTG	0.473000										HNSCC(33;0.089)				118			42		0	0	1	0	0
GTPBP3	84705	broad.mit.edu	37	19	17449365	17449365	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17449365C>T	uc002ngg.4	+	3	501	c.406C>T	c.(406-408)Cga>Tga	p.R136*	GTPBP3_uc010xpo.2_Nonsense_Mutation_p.R158*|GTPBP3_uc010ear.2_Non-coding_Transcript|GTPBP3_uc010eas.3_Nonsense_Mutation_p.R136*|GTPBP3_uc002ngh.4_Nonsense_Mutation_p.R136*	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	136					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GCCAGGGCTTCGACCGGCGGA	0.652000														55			14		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73748388	73748388	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73748388G>A	uc002jpg.3	+	30	4114	c.3927G>A	c.(3925-3927)gaG>gaA	p.E1309E	ITGB4_uc002jph.3_Silent_p.E1309E|ITGB4_uc002jpi.4_Silent_p.E1309E|ITGB4_uc002jpj.3_Silent_p.E1309E	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1309	Fibronectin type-III 2.				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)			GGGGGCCTGAGCGGGAGGCCA	0.672000														90			30		0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21926377	21926377	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21926377C>T	uc001rff.3	-	1	512	c.174G>A	c.(172-174)caG>caA	p.Q58Q		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	58						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)	TGAAGATGTCCTGTAGAAAGC	0.582000											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			33		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37319368	37319369	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37319368_37319369CC>TT	uc003aqa.4	+	2	376_377	c.159_160CC>TT	c.(157-162)gcccag>gcTTag	p.Q54*	CSF2RB_uc003aqc.4_Nonsense_Mutation_p.Q54*	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	54					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCAGGATGCCCAGCGGCTCGT	0.634000														41			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066520	9066520	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9066520G>A	uc002mkp.3	-	2	21130	c.20926C>T	c.(20926-20928)Ccc>Tcc	p.P6976S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6978	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						GTACCAGTGGGGACTTCTGAA	0.483000														112			59		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55263177	55263177	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55263177C>T	uc002qgx.3	+	5	829	c.792C>T	c.(790-792)ctC>ctT	p.L264L	KIR2DL1_uc010erw.1_Silent_p.L264L|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron	NM_015868	NP_056952	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 (KIR2DL3), mRNA.	263					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		tcttctttctccttcATCGCT	0.522000														46			49		0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225609926	225609926	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:225609926G>A	uc001hoy.3	-	2	393	c.219C>T	c.(217-219)tcC>tcT	p.S73S	LBR_uc001hoz.3_Silent_p.S73S	NM_002296	NP_919424	Q14739	LBR_HUMAN	Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.	73	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	DNA binding|chromo shadow domain binding|delta14-sterol reductase activity|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CTCGGCGTCTGGAAGGGGAAC	0.532000														77			8		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53986319	53986319	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:53986319C>T	uc001cvr.1	-	5	1756	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	397					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGGAGCAGCTCCTGGCCCAGG	0.677000														21			6		0	0	1	0	0
LACRT	90070	broad.mit.edu	37	12	55025539	55025539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55025539C>T	uc001sgi.1	-	3	376	c.338G>A	c.(337-339)gGa>gAa	p.G113E		NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN	Homo sapiens lacritin (LACRT), mRNA.	113					calcineurin-NFAT signaling pathway|positive regulation of NFAT protein import into nucleus|positive regulation of epithelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						GAATTGTTTTCCACCTGGCAC	0.473000														147			57		0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125565696	125565696	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:125565696C>T	uc003yrl.2	-	14	2351	c.1817G>A	c.(1816-1818)gGa>gAa	p.G606E	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.G251E|MTSS1_uc011lin.1_Missense_Mutation_p.G376E|MTSS1_uc011lio.1_Missense_Mutation_p.G492E|MTSS1_uc003yri.2_Missense_Mutation_p.G320E|MTSS1_uc003yrj.2_Missense_Mutation_p.G577E|MTSS1_uc003yrk.2_Missense_Mutation_p.G602E	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	602					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCAATGGTTCCCCGGCGGAC	0.627000														35			18		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433119	40433119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40433119C>T	uc002omp.4	-	1	1158	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	384	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCACAGCCTCCCAGGTGAGC	0.617000														47			25		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149260061	149260061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:149260061C>T	uc002twm.4	+	12	5317	c.4320C>T	c.(4318-4320)gtC>gtT	p.V1440V	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_Silent_p.V698V|MBD5_uc002twp.3_Silent_p.V490V	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1440	PWWP.					chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACAGCCGTGTCCGGAAAAGGA	0.408000														41			9		0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73122030	73122030	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73122030C>T	uc001jrr.4	+	5	1150	c.1093C>T	c.(1093-1095)Ctc>Ttc	p.L365F	SLC29A3_uc001jrs.4_3'UTR|SLC29A3_uc010qjq.2_Missense_Mutation_p.L219F|SLC29A3_uc001jrt.4_Missense_Mutation_p.L159F	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	365					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TGGCCGGCAGCTCACCGCCTG	0.592000														208			66		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40689437	40689437	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:40689437G>A	uc001rmg.4	+	22	3208	c.3087G>A	c.(3085-3087)caG>caA	p.Q1029Q	LRRK2_uc001rmh.1_Silent_p.Q651Q|LRRK2_uc009zjw.3_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1029					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCCACAACAGCTATGTGAAG	0.338000														27			19		0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133667776	133667776	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:133667776C>T	uc003eqa.4	-	6	1175	c.901G>A	c.(901-903)Gag>Aag	p.E301K	SLCO2A1_uc011blv.2_Intron	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	301					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GACTTGGCCTCCTCCAACTTC	0.587000														78			32		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004535	75004535	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:75004535G>A	uc004ecj.2	-	0	545	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	118	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TACTCTCTGAGAAACTCCAGC	0.507000														19			12		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147743900	147743900	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:147743900G>A	uc004fcp.3	+	2	1131	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	AFF2_uc004fco.3_Missense_Mutation_p.E214K|AFF2_uc004fcq.3_Missense_Mutation_p.E214K|AFF2_uc004fcr.3_Missense_Mutation_p.E214K|AFF2_uc011mxb.2_Missense_Mutation_p.E218K|AFF2_uc004fcs.3_Missense_Mutation_p.E214K	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	218					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.E218K(2)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATCTGCAAAGGAAGACAGTAA	0.468000														53			97		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36899114	36899114	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36899114C>T	uc003cgj.3	-	11	2215	c.1967G>A	c.(1966-1968)gGa>gAa	p.G656E		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	656					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GACTGCACTTCCTTCAGGCAG	0.582000														67			17		0	0	1	0	0
AQP8	343	broad.mit.edu	37	16	25228586	25228586	+	Missense_Mutation	SNP	G	A	A	rs61733055	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:25228586G>A	uc002doc.3	+	1	162	c.80G>A	c.(79-81)cGa>cAa	p.R27Q		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	27					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GGCAGGTGGCGAGTGTCCTGG	0.577000														245			63		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215844336	215844336	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:215844336G>A	uc001hku.1	-	63	14498	c.14111C>T	c.(14110-14112)cCt>cTt	p.P4704L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4704	Fibronectin type-III 32.				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)		CTCTGTGAAAGGCAATAGTTC	0.378000										HNSCC(13;0.011)				139			41		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79341870	79341870	+	Missense_Mutation	SNP	C	T	T	rs150981409	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:79341870C>T	uc002beq.3	-	3	967	c.592G>A	c.(592-594)Gat>Aat	p.D198N	RASGRF1_uc002bep.3_Missense_Mutation_p.D198N|RASGRF1_uc010blm.1_Missense_Mutation_p.D120N|RASGRF1_uc002ber.4_Missense_Mutation_p.D198N	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	198					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGTCTTCATCGTTGGGGGCG	0.557000														69			13		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52580396	52580396	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:52580396C>T	uc001jjj.3	-	7	971	c.783G>A	c.(781-783)agG>agA	p.R261R	A1CF_uc010qho.2_Silent_p.R269R|A1CF_uc010qhn.2_Silent_p.R269R|A1CF_uc009xov.3_Silent_p.R261R|A1CF_uc001jji.3_Silent_p.R261R|A1CF_uc001jjh.3_Silent_p.R269R	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	261	RRM 3.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E260Q(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTTCTTCACCCTCTCCACAG	0.393000														62			8		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	670560	670560	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:670560C>T	uc001qii.1	+	19	2940	c.2940C>T	c.(2938-2940)ttC>ttT	p.F980F	B4GALNT3_uc001qik.1_Silent_p.F529F	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	980						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGAATTTCTTCCATCATTTCC	0.592000														31			7		0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82323694	82323694	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:82323694C>T	uc004ald.3	+	13	2180	c.1331C>T	c.(1330-1332)tCa>tTa	p.S444L	TLE4_uc004alc.3_Missense_Mutation_p.S419L|TLE4_uc010mpr.3_Missense_Mutation_p.S298L|TLE4_uc004ale.3_Missense_Mutation_p.S56L|TLE4_uc011lsq.2_Missense_Mutation_p.S387L|TLE4_uc010mps.3_Missense_Mutation_p.S343L|TLE4_uc004alf.3_Missense_Mutation_p.S358L	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						TATGGGAGATCACCAGTGGTG	0.582000														25			9		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32183144	32183144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32183144G>A	uc003obb.3	-	11	2019	c.1880C>T	c.(1879-1881)cCc>cTc	p.P627L	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	627	EGF-like 16.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGCACACAGGGGAACCTCACA	0.557000														17			6		0	0	1	0	0
GMEB2	26205	broad.mit.edu	37	20	62221711	62221711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62221711G>A	uc002yfp.1	-	8	1803	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S	GMEB2_uc002yfo.1_Missense_Mutation_p.P364S|GMEB2_uc002yfq.1_Missense_Mutation_p.P442S	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 2 (GMEB2), mRNA.	442					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			ACTGTGCTGGGGTAGGTGGAG	0.697000														25			9		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3729195	3729195	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:3729195G>T	uc002kmf.3	-	6	2058	c.1531C>A	c.(1531-1533)Ctg>Atg	p.L511M	DLGAP1_uc010wyz.2_Missense_Mutation_p.L511M|DLGAP1_uc010dkn.3_Missense_Mutation_p.L209M|DLGAP1_uc002kme.2_Missense_Mutation_p.L209M|DLGAP1_uc010wyw.2_Missense_Mutation_p.L217M|DLGAP1_uc010wyx.2_Missense_Mutation_p.L223M|DLGAP1_uc010wyy.2_Missense_Mutation_p.L223M|DLGAP1_uc002kmg.3_Missense_Mutation_p.L209M|DLGAP1_uc002kmk.2_Missense_Mutation_p.L511M	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	511					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.S510F(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GACGACCTCAGGGACACGCAC	0.687000														41			6		0.0215528	0.0215558	1	1	0
NAP1L2	4674	broad.mit.edu	37	X	72434306	72434306	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:72434306T>C	uc004ebi.3	-	0	405	c.23A>G	c.(22-24)aAg>aGg	p.K8R		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	8					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TGACAGCTCCTTGCGGTTCTC	0.547000														32			25		0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96967005	96967005	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96967005G>A	uc001kke.3	+	3	569	c.444G>A	c.(442-444)aaG>aaA	p.K148K	C10orf129_uc009xuu.1_Silent_p.K58K	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	148					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TGACTGCCAAGAAAATTCGCT	0.463000														77			10		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108147413	108147413	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108147413C>T	uc003dxa.1	-	27	3745	c.3688G>A	c.(3688-3690)Gaa>Aaa	p.E1230K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1230						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						TTGTCTTTTTCCAGTTTCTGC	0.488000														105			55		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134125730	134125730	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:134125730C>T	uc003ytw.3	+	43	7678	c.7637C>T	c.(7636-7638)tCt>tTt	p.S2546F	TG_uc010mdw.3_Missense_Mutation_p.S1305F|TG_uc011ljb.2_Missense_Mutation_p.S915F|TG_uc011ljc.2_Missense_Mutation_p.S679F	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2546					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGCAGAATTCTCTGGGTGGC	0.512000														70			27		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545094	82545094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82545094C>T	uc003uhx.2	-	6	12497	c.12208G>A	c.(12208-12210)Gaa>Aaa	p.E4070K	PCLO_uc003uhv.2_Missense_Mutation_p.E4070K|PCLO_uc010lec.3_Missense_Mutation_p.E1035K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4001					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						AGATCCTTTTCATGAAGGCTA	0.448000														17			3		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77406534	77406534	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:77406534G>A	uc021sqy.1	-	7	5781	c.5205C>T	c.(5203-5205)tcC>tcT	p.S1735S		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1735					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TACAACTGAGGGAGTCTGTAG	0.463000														127			28		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18014197	18014197	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:18014197C>T	uc001ban.3	+	26	3298	c.3139C>T	c.(3139-3141)Ctg>Ttg	p.L1047L	ARHGEF10L_uc009vpe.1_Silent_p.L1008L|ARHGEF10L_uc001bao.3_Silent_p.L1008L|ARHGEF10L_uc001bap.3_Silent_p.L1003L|ARHGEF10L_uc001baq.3_Silent_p.L808L|ARHGEF10L_uc010ocs.2_Silent_p.L820L|ARHGEF10L_uc001bar.3_Silent_p.L750L|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	1047					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCTGGAGCATCTGCAAGAGAT	0.642000														49			11		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307838	46307838	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46307838G>A	uc002pdm.3	-	2	1496	c.1325C>T	c.(1324-1326)cCc>cTc	p.P442L	RSPH6A_uc002pdl.3_Missense_Mutation_p.P178L	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	442						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						AGTGACGTGGGGCAGCCGCGT	0.632000														66			18		0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60886927	60886927	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60886927G>A	uc009ynk.3	+	4	788	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	229	SRCR 2.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GGAGCCACGGGAACACCAGCC	0.557000														56			20		0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91312713	91312713	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:91312713C>T	uc002bpr.3	+	11	2549	c.2452C>T	c.(2452-2454)Cgc>Tgc	p.R818C	BLM_uc010uqh.2_Missense_Mutation_p.R818C|BLM_uc010uqi.2_Missense_Mutation_p.R443C|BLM_uc010bnx.3_Missense_Mutation_p.R818C	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	818	Helicase ATP-binding.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GAATATGCTTCGCCAGAAGTT	0.428000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					92			65		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186545533	186545533	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:186545533C>T	uc003iyg.3	-	12	1412	c.1380G>A	c.(1378-1380)cgG>cgA	p.R460R	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.R446R|SORBS2_uc003iyl.3_Silent_p.R346R|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.R250R|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	346						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TTGGTGAGTCCCGAGGGACAT	0.502000														69			25		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885298	39885298	+	Silent	SNP	C	T	T	rs139289744	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:39885298C>T	uc001zkh.3	+	17	3044	c.2865C>T	c.(2863-2865)acC>acT	p.T955T	THBS1_uc010bbi.3_Silent_p.T427T	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	955					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCAGTGAGACCGATTTCCGCC	0.502000														44			13		0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133333958	133333958	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:133333958C>T	uc010mza.3	+	4	1081	c.573C>T	c.(571-573)tcC>tcT	p.S191S	ASS1_uc004bzm.3_Silent_p.S115S|ASS1_uc004bzn.3_Silent_p.S115S	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	115			E -> K (in CTLN1).|E -> Q (in CTLN1).		arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	AGTATGTGTCCCACGGCGCCA	0.647000														22			6		0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36900680	36900680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:36900680G>A	uc003apn.4	-	1	769	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	FOXRED2_uc003apo.4_Missense_Mutation_p.R221C|FOXRED2_uc003app.4_Missense_Mutation_p.R221C	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA.	221					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAGTTCCCACGACCCAGGATC	0.567000														45			18		0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160808825	160808825	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160808825G>A	uc009wtq.3	-	3	910	c.685C>T	c.(685-687)Ccg>Tcg	p.P229S	CD244_uc001fxa.3_Missense_Mutation_p.P224S|CD244_uc009wtr.3_Missense_Mutation_p.P132S|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	229					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACCAAAAACGGCCAAAATCTG	0.522000														51			19		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42683154	42683154	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42683154G>A	uc010ggo.3	+	4	907	c.867G>A	c.(865-867)gaG>gaA	p.E289E	TOX2_uc002xle.4_Silent_p.E247E|TOX2_uc010ggp.3_Silent_p.E247E|TOX2_uc002xlf.4_Silent_p.E298E|TOX2_uc010zwk.2_Silent_p.E167E	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCCTGGGAGAGGAACAGAAGC	0.572000														31			12		0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60635212	60635212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60635212C>T	uc001nqd.3	+	0	198	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	60					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.L60F(2)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCCAGACTCTCCGCTTCAA	0.677000														19			14		0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48666444	48666444	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:48666444C>A	uc011mmi.1	+	8	732	c.637C>A	c.(637-639)Cct>Act	p.P213T	HDAC6_uc004dks.1_Missense_Mutation_p.P213T|HDAC6_uc010nig.1_Missense_Mutation_p.P61T|HDAC6_uc004dkt.1_Missense_Mutation_p.P213T|HDAC6_uc011mmj.1_Missense_Mutation_p.P158T|HDAC6_uc011mmk.1_Missense_Mutation_p.P194T	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	213	Histone deacetylase 1.				Hsp90 deacetylation|aggresome assembly|cellular response to hydrogen peroxide|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	Hsp90 protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|microtubule binding|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GCCCAGGCCTCCTGGACATCA	0.547000														7			5		0.000602214	0.00060283	1	1	0
ABCE1	6059	broad.mit.edu	37	4	146029175	146029175	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:146029175C>T	uc003ijx.3	+	3	638	c.198C>T	c.(196-198)ccC>ccT	p.P66P	ABCE1_uc003ijy.3_Silent_p.P66P|ABCE1_uc010iot.3_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	66	4Fe-4S ferredoxin-type 2.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					AGAAATGCCCCTTTGGCGCCT	0.294000														44			19		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829430	146829430	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:146829430G>A	uc003weu.2	+	7	1693	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	393					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.Q392K(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCTTAACCAGGACCTGTTCTC	0.478000										HNSCC(39;0.1)				83			30		0	0	1	0	0
FFAR1	2864	broad.mit.edu	37	19	35843221	35843221	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35843221C>T	uc002nzc.2	+	0	777	c.767C>T	c.(766-768)tCc>tTc	p.S256F		NM_005303	NP_005294	O14842	FFAR1_HUMAN	Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA.	256					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CTAGGAGGCTCCTGGCGGAAG	0.642000														0			2		0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431164	56431164	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56431164G>A	uc010rjm.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TTGAAGCAATGGATAAAGAAA	0.398000														151			40		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033513	82033513	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:82033513C>T	uc002fgu.3	-	2	513	c.385G>A	c.(385-387)Gga>Aga	p.G129R		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	129					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						ACTTGACCTCCAAAGATGACA	0.488000														91			12		0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43821097	43821097	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:43821097C>T	uc011apz.2	+	1	546	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	MPPED1_uc011apv.2_Missense_Mutation_p.R36W|MPPED1_uc011apw.2_Intron|MPPED1_uc011apx.2_Intron|MPPED1_uc011apy.2_Missense_Mutation_p.R36W	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	36							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GATGGCCGCTCGGCGGCACCA	0.662000														36			23		0	0	1	0	0
C10orf118	55088	broad.mit.edu	37	10	115889665	115889665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115889665G>A	uc001lbb.1	-	12	2819	c.2167C>T	c.(2167-2169)Cgt>Tgt	p.R723C	C10orf118_uc009xyd.1_Missense_Mutation_p.R321C|C10orf118_uc009xye.1_Non-coding_Transcript|C10orf118_uc001lbc.1_Missense_Mutation_p.R723C	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	Homo sapiens chromosome 10 open reading frame 118 (C10orf118), mRNA.	723	Ser-rich.									NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		GAACTAGAACGACTTCCCATG	0.368000														92			38		0	0	1	0	0
CHMP1B	57132	broad.mit.edu	37	18	11851674	11851674	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:11851674C>T	uc002kqe.3	+	0	286	c.164C>T	c.(163-165)gCc>gTc	p.A55V	GNAL_uc002kqc.2_Intron|GNAL_uc002kqd.2_Intron|GNAL_uc010dkz.2_Intron	NM_020412	NP_065145	Q7LBR1	CHM1B_HUMAN	Homo sapiens charged multivesicular body protein 1B (CHMP1B), mRNA.	55					cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|lung(1)|urinary_tract(1)	3						GCCGAAAATGCCATCCGCCAG	0.527000														42			15		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13920608	13920608	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13920608C>T	uc003jfd.2	-	5	821	c.779G>A	c.(778-780)tGg>tAg	p.W260*	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	260	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)					CTGTTTGATCCATACTTTCAT	0.398000									Kartagener syndrome					100			32		0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18754784	18754784	+	Missense_Mutation	SNP	C	T	T	rs139371305		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:18754784C>T	uc001mpd.3	-	10	1647	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	PTPN5_uc001mpb.3_Missense_Mutation_p.E374K|PTPN5_uc001mpc.3_Missense_Mutation_p.E406K|PTPN5_uc010rdj.2_Missense_Mutation_p.E350K|PTPN5_uc001mpf.3_Missense_Mutation_p.E382K|PTPN5_uc001mpe.3_Missense_Mutation_p.E374K|PTPN5_uc010rdk.2_Missense_Mutation_p.E351K	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	406	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						GTCCCTACCTCGTTCATCTCC	0.517000														82			33		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42608869	42608869	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:42608869G>A	uc003bcj.1	-	0	2577	c.2443C>T	c.(2443-2445)Ccc>Tcc	p.P815S	TCF20_uc003bck.1_Missense_Mutation_p.P815S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	815					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCCCAGTGGGGATTTTCTAAT	0.443000														70			30		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81744902	81744902	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:81744902C>T	uc010tvu.2	-	3	951	c.753G>A	c.(751-753)ctG>ctA	p.L251L	STON2_uc001xvk.1_Silent_p.L251L|STON2_uc010tvt.2_Silent_p.L48L	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	251					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TATTTGGCTTCAGAGGAGAGG	0.502000														85			10		0	0	1	0	0
RNASE12	493901	broad.mit.edu	37	14	21058675	21058675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21058675G>A	uc001vxt.3	-	0	308	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	RNASE11_uc010ahv.3_5'Flank|RNASE11_uc010ahx.3_5'Flank|RNASE11_uc010ahw.3_5'Flank|RNASE11_uc001vxs.3_5'Flank|AX747992_uc001vxu.1_Non-coding_Transcript	NM_001024822	NP_001019993	Q5GAN4	RNS12_HUMAN	Homo sapiens ribonuclease, RNase A family, 12 (non-active) (RNASE12), mRNA.	70						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		GGCCTCTCATGGATGAAGACA	0.438000														123			11		0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14287146	14287146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:14287146G>A	uc001mle.3	+	16	2602	c.2334G>A	c.(2332-2334)atG>atA	p.M778I		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	779	TSP type-1 6.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AACGTTACATGACTGTAAAGA	0.473000														20			15		0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115574931	115574931	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:115574931G>A	uc004eqi.3	+	4	760	c.629G>A	c.(628-630)gGg>gAg	p.G210E	SLC6A14_uc011mtm.2_Non-coding_Transcript	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	210					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.G210G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TATCAGCCAGGGCAGCTTCCC	0.328000														30			31		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12979903	12979903	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12979903C>T	uc002mvm.3	+	21	2925	c.2797C>T	c.(2797-2799)Ctt>Ttt	p.L933F		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	933					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AAGTTCACCCCTTGCTAGTCC	0.562000														72			23		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10315990	10315990	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10315990G>A	uc002gmm.2	-	12	1298	c.1203C>T	c.(1201-1203)gcC>gcT	p.A401A	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	401	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGTAGCAGAGGGCTTTGAGTA	0.498000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					133			94		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139907985	139907985	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139907985G>A	uc004ckm.1	-	28	4615	c.4565C>T	c.(4564-4566)tCc>tTc	p.S1522F	ABCA2_uc022bpy.1_Missense_Mutation_p.S1423F|ABCA2_uc022bpz.1_Missense_Mutation_p.S1493F|ABCA2_uc011mem.1_Missense_Mutation_p.S1492F|ABCA2_uc004ckl.1_Missense_Mutation_p.S1423F|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1492					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGGTACTGGGAAGGTGACAG	0.687000														12			4		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160732029	160732029	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:160732029C>T	uc002ubb.4	-	11	1974	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	LY75-CD302_uc010fos.3_Missense_Mutation_p.E634K|LY75-CD302_uc002ubc.4_Missense_Mutation_p.E634K|LY75-CD302_uc010fot.2_Missense_Mutation_p.E634K	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	634					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										GGGGATGCTTCTTCAGGCCCA	0.473000														160			49		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1104238	1104238	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1104238C>T	uc001lsx.1	+	50	8444	c.8417C>T	c.(8416-8418)tCc>tTc	p.S2806F		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	5172						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCCCGGCGCTCCCCTAGGCAT	0.706000														21			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179393620	179393620	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179393620C>T	uc021vsy.1	-	308	99379	c.99154G>A	c.(99154-99156)Gaa>Aaa	p.E33052K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E26747K|TTN_uc021vta.1_Missense_Mutation_p.E26680K|TTN_uc021vtb.1_Missense_Mutation_p.E26555K|TTN_uc002umq.3_Missense_Mutation_p.E69K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33979							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)			CTTTGACCTTCGTTTATGCTC	0.418000														47			22		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87965964	87965964	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:87965964C>T	uc003plm.4	+	7	2658	c.2617C>T	c.(2617-2619)Cct>Tct	p.P873S		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATCTATGCTTCCTTCAGAAAA	0.398000														43			5		0	0	1	0	0
MTERFD2	130916	broad.mit.edu	37	2	242039363	242039363	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242039363G>A	uc002wan.1	-	0	548	c.55C>T	c.(55-57)Cca>Tca	p.P19S	MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Intron	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	Homo sapiens MTERF domain containing 2 (MTERFD2), transcript variant 1, mRNA.	0										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CAGTGTAATGGACACCATAAG	0.443000														20			6		0	0	1	0	0
PNPLA8	50640	broad.mit.edu	37	7	108119732	108119732	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:108119732G>A	uc003vff.1	-	10	2377	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F	PNPLA8_uc003vfi.1_Missense_Mutation_p.S557F|PNPLA8_uc003vfh.1_Missense_Mutation_p.S657F|PNPLA8_uc003vfj.1_Missense_Mutation_p.S657F|PNPLA8_uc003vfk.1_Missense_Mutation_p.S557F	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA.	657					fatty acid metabolic process|lipid catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AGTGCCCAGGGATACTATGCA	0.418000														117			40		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103343647	103343647	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:103343647G>A	uc001dum.3	-	66	5703	c.5385C>T	c.(5383-5385)gtC>gtT	p.V1795V	COL11A1_uc001duk.3_Silent_p.V979V|COL11A1_uc001dul.3_Silent_p.V1783V|COL11A1_uc001dun.3_Silent_p.V1744V|COL11A1_uc009weh.3_Silent_p.V1667V	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1783	Fibrillar collagen NC1.				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)		CATTGATCATGACATCAACAA	0.323000														62			35		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767876	57767876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:57767876G>A	uc002yan.3	+	0	1802	c.1802G>A	c.(1801-1803)aGa>aAa	p.R601K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	601						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCAAGGGCAGAGCGGGCGGC	0.622000														67			18		0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3391706	3391706	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:3391706C>T	uc002qxm.1	+	1	518	c.312C>T	c.(310-312)ccC>ccT	p.P104P	TRAPPC12_uc002qxn.1_Silent_p.P104P|TRAPPC12_uc010ewm.1_Silent_p.P104P	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.	104							binding										GCCCGGAGCCCGCGGGCACCC	0.771000														5			4		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124330411	124330411	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124330411C>T	uc001lgk.1	+	3	251	c.145C>T	c.(145-147)Cca>Tca	p.P49S	DMBT1_uc001lgl.1_Missense_Mutation_p.P49S|DMBT1_uc001lgm.1_Missense_Mutation_p.P49S|DMBT1_uc021qaf.1_Missense_Mutation_p.P49S|DMBT1_uc021qag.1_Missense_Mutation_p.P49S|DMBT1_uc021qah.1_Missense_Mutation_p.P49S|DMBT1_uc009xzz.1_Missense_Mutation_p.P49S|DMBT1_uc010qtx.1_Missense_Mutation_p.P49S|DMBT1_uc009yaa.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	49					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCAGGTTCTCCATTTCCCTC	0.552000														135			60		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922879	24922879	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24922879C>T	uc001ywo.3	+	0	2339	c.1865C>T	c.(1864-1866)tCc>tTc	p.S622F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	622					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)		GTCTACACATCCCCACTTCCA	0.483000														80			40		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47746591	47746591	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47746591G>A	uc003gxm.3	-	4	720	c.627C>T	c.(625-627)ctC>ctT	p.L209L	CORIN_uc011bzf.2_Silent_p.L70L|CORIN_uc011bzg.2_Silent_p.L142L|CORIN_uc011bzh.1_Silent_p.L209L|CORIN_uc011bzi.1_Silent_p.L209L|CORIN_uc003gxn.4_Silent_p.L209L	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	209	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.L209F(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TACAGGGCAGGAGTCCATGAC	0.418000														139			13		0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120371457	120371457	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:120371457C>T	uc003edw.3	-	4	784	c.324G>A	c.(322-324)aaG>aaA	p.K108K	HGD_uc003edv.3_5'Flank	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	108					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AGTCTACTTTCTTCTGAGATG	0.428000														46			11		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120387522	120387522	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:120387522C>T	uc002tmb.3	+	17	1976	c.864C>T	c.(862-864)ttC>ttT	p.F288F	PCDP1_uc010yyq.2_Silent_p.F418F	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	574						cilium	calmodulin binding					Colorectal(110;0.196)					ATTCCTTCTTCAATCTGCAGG	0.333000														47			25		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13829732	13829732	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13829732G>A	uc003jfd.2	-	37	6373	c.6331C>T	c.(6331-6333)Cgt>Tgt	p.R2111C		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2111	AAA 1 (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)					ATAATCTGACGGTCAGGCACC	0.463000									Kartagener syndrome					83			25		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085995	9085995	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9085995G>A	uc002mkp.3	-	0	6024	c.5820C>T	c.(5818-5820)tcC>tcT	p.S1940S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1940	Ser-rich.|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						CCACTGGAATGGATGAAAAAG	0.488000														34			12		0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37602795	37602795	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37602795C>T	uc003ara.3	-	1	1110	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	SSTR3_uc003arb.3_Missense_Mutation_p.E350K|SSTR3_uc021wos.1_Missense_Mutation_p.E350K	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	350	Glu-rich (acidic).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						tcatcctcctcctcAGTCTTC	0.687000														51			26		0	0	1	0	0
DHX40	79665	broad.mit.edu	37	17	57679906	57679906	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:57679906C>T	uc002ixn.2	+	14	1977	c.1830C>T	c.(1828-1830)acC>acT	p.T610T	DHX40_uc010woe.2_Silent_p.T533T|DHX40_uc010wof.2_Silent_p.T125T	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	610							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CAAAAGAGACCTTTGAAGGCC	0.338000														74			21		0	0	1	0	0
KDM5D	8284	broad.mit.edu	37	Y	21903332	21903332	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrY:21903332G>A	uc004fug.3	-	4	682	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	KDM5D_uc011naz.2_Missense_Mutation_p.R132C|KDM5D_uc010nwy.3_Intron|KDM5D_uc011nba.1_Missense_Mutation_p.R132C|KDM5D_uc004fuh.2_Missense_Mutation_p.R132C	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN	Homo sapiens lysine (K)-specific demethylase 5D (KDM5D), transcript variant 2, mRNA.	132	ARID.				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	GCCCACCGACGATCCTTGCAG	0.478000														16			10		0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633295	106633295	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:106633295G>A	uc001tlk.3	-	1	1400	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	Homo sapiens cytoskeleton-associated protein 4 (CKAP4), mRNA.	439						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CTGGCTCTTGGACAGGAGGGA	0.687000														79			9		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943017	12943017	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12943017G>A	uc001aun.2	-	1	270	c.199C>T	c.(199-201)Cct>Tct	p.P67S		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	67										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTCAGAGGGAGGCGGCGG	0.602000														79			26		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393331	145393331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:145393331C>T	uc003lnt.3	+	4	1004	c.766C>T	c.(766-768)Ctt>Ttt	p.L256F	SH3RF2_uc011dbl.1_Missense_Mutation_p.L256F	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	256							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)			CGCAAGACACCTTTTAGAGAA	0.507000														89			11		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8938378	8938378	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:8938378A>C	uc002qzc.2	-	9	1135	c.953T>G	c.(952-954)gTg>gGg	p.V318G	KIDINS220_uc010yiv.1_Missense_Mutation_p.V84G|KIDINS220_uc002qzd.2_Missense_Mutation_p.V276G|KIDINS220_uc010yiw.1_Missense_Mutation_p.V319G	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	318					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GATATCTCTCACCATTGTTGC	0.328000														44			24		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48684206	48684207	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48684206_48684207GG>AA	uc003cuf.1	-	22	7494_7495	c.7494_7495CC>TT	c.(7492-7497)cgccga>cgTTga	p.R2499*	CELSR3_uc010hkf.3_5'Flank|CELSR3_uc010hkg.3_Nonsense_Mutation_p.R412*|CELSR3_uc003cul.3_Nonsense_Mutation_p.R2429*|CELSR3_uc021wxq.1_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2429	GPS.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGGCACCTCGGCGTTCTGCCT	0.594000														31			8		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150698983	150698983	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150698983C>T	uc003wif.3	+	12	1873	c.1577C>T	c.(1576-1578)tCc>tTc	p.S526F	NOS3_uc011kuy.2_Missense_Mutation_p.S320F|NOS3_uc011kva.2_Missense_Mutation_p.S526F|NOS3_uc011kuz.2_Missense_Mutation_p.S526F|NOS3_uc011kvb.2_Missense_Mutation_p.S526F	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	526	Flavodoxin-like.				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)	CTGTATGGCTCCGAGACCGGC	0.652000														49			27		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187840	152187840	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152187840C>T	uc001ezt.1	-	2	6341	c.6265G>A	c.(6265-6267)Ggt>Agt	p.G2089S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2089					keratinization		calcium ion binding|protein binding	p.S2088C(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGACCGACCGGAGCCAGAC	0.622000														121			45		0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3142167	3142167	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3142167G>A	uc002ctv.1	-	1	470	c.382C>T	c.(382-384)Cga>Tga	p.R128*	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Intron|ZSCAN10_uc002ctx.1_Nonsense_Mutation_p.R56*	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	128	Pro-rich.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GGCTGGGGTCGGGGAGGCTCA	0.652000														39			15		0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19506390	19506390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:19506390C>T	uc011aha.2	+	18	1834	c.1756C>T	c.(1756-1758)Cgg>Tgg	p.R586W	CDC45_uc002zpr.3_Missense_Mutation_p.R554W|CDC45_uc002zpt.3_Missense_Mutation_p.R508W	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	554					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						AGCTGAGGATCGGAGCAAGTT	0.552000														138			43		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588200	247588200	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247588200G>A	uc001icr.3	+	4	1593	c.1455G>A	c.(1453-1455)gaG>gaA	p.E485E	NLRP3_uc001ics.3_Silent_p.E485E|NLRP3_uc001icu.3_Silent_p.E485E|NLRP3_uc001icw.3_Silent_p.E485E|NLRP3_uc001icv.3_Silent_p.E485E|NLRP3_uc010pyw.2_Silent_p.E483E|NLRP3_uc001ict.1_Silent_p.E483E	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	485	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCTGTTTGAGGAGTCCGACC	0.567000														35			14		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36859727	36859727	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36859727C>T	uc002xhy.1	-	5	2020	c.1748_splice	c.e5-1	p.G583_splice	KIAA1755_uc002xhz.1_Splice_Site_p.G583_splice	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	583										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GTCCCGGCCACCTGGAGGACA	0.632000														4			3		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898704	36898704	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36898704C>T	uc003cgj.3	-	11	2625	c.2377G>A	c.(2377-2379)Gag>Aag	p.E793K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	793					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GAAGTGCACTCGATCTCCCAG	0.493000														268			105		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133208969	133208969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:133208969G>A	uc001uks.1	-	44	6306	c.6262C>T	c.(6262-6264)Cct>Tct	p.P2088S	POLE_uc001ukq.1_Missense_Mutation_p.P298S|POLE_uc001ukr.1_Missense_Mutation_p.P892S|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	2088					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGGAGGACAGGAAACATCTCT	0.522000								DNA polymerases (catalytic subunits)						68			9		0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25670448	25670448	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25670448C>T	uc001upy.3	+	0	173	c.112C>T	c.(112-114)Ctc>Ttc	p.L38F		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	38	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGGGCCCATCCTCTCCATCCG	0.622000														75			29		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77642739	77642739	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:77642739G>A	uc021rks.1	-	69	12399	c.12132C>T	c.(12130-12132)ttC>ttT	p.F4044F	MYCBP2_uc010aev.3_Silent_p.F3410F|MYCBP2_uc001vke.3_Silent_p.F623F	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4006					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAAGCAGCGAGAAGAGATCCT	0.473000														28			10		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2071147	2071147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2071147C>T	uc003wpx.4	+	28	3614	c.3476C>T	c.(3475-3477)aCc>aTc	p.T1159I	MYOM2_uc011kwi.2_Missense_Mutation_p.T584I	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1159	Ig-like C2-type 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGAAAGAAACCGTTTTCAAA	0.408000														79			8		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173556803	173556803	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:173556803C>T	uc001giz.2	-	5	946	c.523_splice	c.e5+1	p.G175_splice	SLC9C2_uc010pmq.1_Splice_Site	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	175					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATGTGACATACCAATAGTTTT	0.318000														59			24		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625476	140625476	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140625476G>A	uc003lje.3	+	0	330	c.330G>A	c.(328-330)ctG>ctA	p.L110L		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	110	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGTGTTACTGAAAAAACCTT	0.438000														116			46		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108383284	108383284	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:108383284C>T	uc001pkk.3	-	5	3061	c.2950G>A	c.(2950-2952)Gaa>Aaa	p.E984K	EXPH5_uc010rvz.2_Missense_Mutation_p.E828K|EXPH5_uc010rvy.2_Missense_Mutation_p.E796K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	984					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTTAACTTTTCAATACAGGAT	0.378000														109			27		0	0	1	0	0
CYP17A1	1586	broad.mit.edu	37	10	104592419	104592419	+	Missense_Mutation	SNP	C	T	T	rs142037395	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104592419C>T	uc001kwg.3	-	5	1160	c.988G>A	c.(988-990)Gag>Aag	p.E330K		NM_000102	NP_000093	P05093	CP17A_HUMAN	Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.	330			Missing (in AH5; complete loss of both 17alpha-hydroxylase and 17,20-lyase activities).		androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	TCAATCTCCTCGTAGAGCTTC	0.532000														76			33		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211438116	211438116	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:211438116A>T	uc010fur.3	+	2	321	c.239A>T	c.(238-240)aAt>aTt	p.N80I	CPS1_uc002vee.4_Missense_Mutation_p.N74I	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	74	Anthranilate phosphoribosyltransferase homolog.				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.Y80Y(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)		GTGGTTTTTAATACTGGCCTG	0.433000														93			21		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32567576	32567576	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:32567576G>A	uc002yow.1	-	13	3011	c.2539C>T	c.(2539-2541)Cac>Tac	p.H847Y	TIAM1_uc011adk.1_Missense_Mutation_p.H847Y|TIAM1_uc011adl.1_Missense_Mutation_p.H787Y	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	847	PDZ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	p.H847Y(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTCTCAATGTGGATGCTCTGA	0.303000														53			14		0	0	1	0	0
HARS2	23438	broad.mit.edu	37	5	140075096	140075096	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140075096C>T	uc003lgx.3	+	4	619	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	HARS2_uc010jfv.1_Missense_Mutation_p.P65S|HARS2_uc011czr.2_Missense_Mutation_p.P110S|HARS2_uc011czs.2_Intron|HARS2_uc011czt.2_Intron|HARS2_uc011czu.2_5'UTR	NM_012208	NP_036340	P49590	SYHM_HUMAN	Homo sapiens histidyl-tRNA synthetase 2, mitochondrial (putative) (HARS2), nuclear gene encoding mitochondrial protein, mRNA.	135					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity	p.P135P(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTGAGGTTCCCTTTGCTCG	0.488000														194			61		0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39965022	39965022	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39965022C>T	uc002olo.4	+	26	2979	c.2800C>T	c.(2800-2802)Ccg>Tcg	p.P934S	SUPT5H_uc002olp.4_Missense_Mutation_p.P934S|SUPT5H_uc002olq.4_Missense_Mutation_p.P930S|SUPT5H_uc002oln.4_Missense_Mutation_p.P934S|SUPT5H_uc002olr.4_Missense_Mutation_p.P934S|SUPT5H_uc002ols.1_Missense_Mutation_p.P557S	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	934	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCACCCTACACCGTCGCCCAT	0.632000											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			15		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065396	9065396	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9065396G>A	uc002mkp.3	-	2	22254	c.22050C>T	c.(22048-22050)tcC>tcT	p.S7350S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7352	Ser-rich.|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						TTATTACCAAGGAGGGAGTGG	0.488000														45			16		0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57013070	57013070	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:57013070C>T	uc003pdm.1	+	9	2411	c.2187C>T	c.(2185-2187)atC>atT	p.I729I	ZNF451_uc003pdl.3_Silent_p.I729I|ZNF451_uc003pdn.1_Silent_p.I729I|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Silent_p.I729I	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGAGTTACATCTGTAAAGTCA	0.383000														42			10		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138453098	138453099	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:138453098_138453099CT>TC	uc003ihe.4	-	0	531_532	c.144_145AG>GA	c.(142-147)tcagag>tcGAag	p.E49K	PCDH18_uc003ihf.4_Missense_Mutation_p.E42K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	49	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S48S(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCCACATCCTCTGATAGTCTTG	0.411000														87			34		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43819304	43819304	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43819304G>A	uc001zrt.3	+	3	6100	c.5633G>A	c.(5632-5634)tGg>tAg	p.W1878*		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1878						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCTTCTCTTGGGGCACAGCC	0.657000														34			13		0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39563886	39563886	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:39563886C>T	uc003oot.2	-	6	885	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	KIF6_uc010jxa.1_Missense_Mutation_p.G55S|KIF6_uc011dua.1_Missense_Mutation_p.G264S|KIF6_uc010jxb.1_Missense_Mutation_p.G264S	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	264	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGAAGATGGCCCCCTACTCCA	0.448000														77			17		0	0	1	0	0
RNF8	9025	broad.mit.edu	37	6	37328278	37328278	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:37328278C>T	uc003onq.4	+	1	361	c.168C>T	c.(166-168)ccC>ccT	p.P56P	RNF8_uc003onr.4_Silent_p.P56P|RNF8_uc011dtx.2_5'UTR	NM_003958	NP_003949	O76064	RNF8_HUMAN	Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA.	56	FHA.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						AAATCTGCCCCCTGATGATTT	0.443000														82			25		0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8000065	8000065	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:8000065G>A	uc002gka.3	-	14	2515	c.2484C>T	c.(2482-2484)atC>atT	p.I828I	ALOXE3_uc010cnr.3_Silent_p.I672I|ALOXE3_uc010vuo.2_Silent_p.I804I	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	672					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGAAGGCGGCGATGCTCCGCC	0.622000														45			31		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124207135	124207135	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124207135G>A	uc003ehg.3	+	28	4490	c.4363G>A	c.(4363-4365)Gat>Aat	p.D1455N	KALRN_uc010hrv.1_Missense_Mutation_p.D1446N|KALRN_uc003ehf.1_Missense_Mutation_p.D1455N|KALRN_uc011bjy.1_Missense_Mutation_p.D1446N|KALRN_uc003ehh.1_Missense_Mutation_p.D801N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1455	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAAAGCCAATGATGCCATGCA	0.522000														56			27		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10525053	10525053	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:10525053G>A	uc002czw.3	+	1	735	c.576G>A	c.(574-576)aaG>aaA	p.K192K	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Silent_p.K192K|ATF7IP2_uc002czv.3_Silent_p.K192K|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TGGGTGACAAGAAAACTGACC	0.423000														102			10		0	0	1	0	0
TES	26136	broad.mit.edu	37	7	115890401	115890401	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:115890401G>A	uc003vho.3	+	3	768	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	TES_uc011kmy.2_Intron|TES_uc003vhp.3_Missense_Mutation_p.E176K|TES_uc022aki.1_Non-coding_Transcript|BD495725_uc003vhq.1_5'Flank	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	185	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			ATATAAGAGCGAAGCTCTGGG	0.512000														52			26		0	0	1	0	0
OR8G1	26494	broad.mit.edu	37	11	124121172	124121172	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124121172C>T	uc001pzx.3	+	0	750	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		CGGTTGTAATCTTTTTTGGAT	0.458000														114			10		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37325573	37325573	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:37325573T>G	uc001caz.2	-	5	967	c.832A>C	c.(832-834)Aac>Cac	p.N278H	GRIK3_uc001cba.1_Missense_Mutation_p.N278H	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	278					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCTGTCAGGTTCACGCCTGAG	0.567000														70			23		0	0	1	0	0
CRY1	1407	broad.mit.edu	37	12	107395596	107395596	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:107395596G>A	uc001tmi.3	-	3	1400	c.541C>T	c.(541-543)Cct>Tct	p.P181S		NM_004075	NP_004066	Q16526	CRY1_HUMAN	Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.	181					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA photolyase activity|blue light photoreceptor activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCAGACAGAGGAGTTGTGCAC	0.398000														139			45		0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86518066	86518066	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:86518066G>A	uc004ana.3	-	3	1511	c.1367C>T	c.(1366-1368)tCa>tTa	p.S456L	KIF27_uc010mpw.3_Missense_Mutation_p.S456L|KIF27_uc010mpx.3_Missense_Mutation_p.S456L	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	456					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCCTCGAAATGAGGTGAGGAC	0.463000														65			19		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33342596	33342596	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33342596G>A	uc002xav.3	-	8	4175	c.1604C>T	c.(1603-1605)tCg>tTg	p.S535L	NCOA6_uc002xaw.3_Missense_Mutation_p.S535L|NCOA6_uc021wcd.1_Missense_Mutation_p.S535L|NCOA6_uc021wce.1_Missense_Mutation_p.S535L|NCOA6_uc021wcf.1_Missense_Mutation_p.S535L	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	535	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGCTGTGGTCGAAGGCACCTG	0.498000														85			10		0	0	1	0	0
ISOC1	51015	broad.mit.edu	37	5	128440889	128440889	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:128440889C>T	uc003kva.3	+	2	459	c.441C>T	c.(439-441)gcC>gcT	p.A147A		NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	Homo sapiens isochorismatase domain containing 1 (ISOC1), mRNA.	147						peroxisome	catalytic activity			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		TGCAAGGGGCCCGGATTTTAG	0.343000														73			15		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11584065	11584065	+	Missense_Mutation	SNP	G	A	A	rs61744927		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11584065G>A	uc001ash.4	+	10	2567	c.2429G>A	c.(2428-2430)cGa>cAa	p.R810Q	PTCHD2_uc001asi.1_Missense_Mutation_p.R810Q	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	810					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)		AAGAAGAGGCGAGGCTCAGGG	0.652000														50			6		0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73826224	73826224	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73826224C>T	uc002jpp.3	-	29	3219	c.2839G>A	c.(2839-2841)Gac>Aac	p.D947N		NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	947	C2 2.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACAAAGGGGTCGCTGGAGCCT	0.637000									Familial Hemophagocytic Lymphohistiocytosis		OREG0024741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		8			7		0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79108233	79108233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:79108233G>A	uc010dia.3	-	1	204	c.124C>T	c.(124-126)Ctc>Ttc	p.L42F	AATK_uc021ueu.1_5'Flank|MIR1250_uc021uex.1_5'Flank	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	42						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			ACGGCGAAGAGCCCGGAGAAA	0.662000														25			12		0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1395328	1395328	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1395328G>A	uc002clk.2	+	21	2282	c.2124G>A	c.(2122-2124)agG>agA	p.R708R	BAIAP3_uc010uuz.2_Silent_p.R673R|BAIAP3_uc010uva.2_Silent_p.R645R|BAIAP3_uc021tag.1_Silent_p.R650R|BAIAP3_uc002clj.3_Silent_p.R690R|BAIAP3_uc010uvc.1_Silent_p.R637R	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	708	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AAGTGCTGAGGGACCAGGCCA	0.672000														32			21		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129148439	129148439	+	Missense_Mutation	SNP	C	T	T	rs144104600		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:129148439C>T	uc022cdu.1	+	2	1735	c.1691C>T	c.(1690-1692)cCa>cTa	p.P564L	BCORL1_uc010nrd.1_Missense_Mutation_p.P466L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	564	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTTCCAACTCCACAGCCTCTG	0.637000														60			31		0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45689189	45689189	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:45689189C>T	uc003bfy.3	+	4	726	c.699C>T	c.(697-699)agC>agT	p.S233S	UPK3A_uc010gzy.3_Silent_p.S112S	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	233					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TTGCCCTCAGCCTCGTGTAAG	0.632000														74			25		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634006	70634006	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70634006C>T	uc001xly.3	-	1	1888	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K	SLC8A3_uc001xlw.3_Silent_p.K378K|SLC8A3_uc001xlx.3_Silent_p.K378K|SLC8A3_uc001xlz.3_Silent_p.K378K|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	378					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGGAGGCCTTCTTGGCTTGTT	0.517000														106			54		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7675993	7675993	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7675993C>T	uc002mgu.4	+	10	1244	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	CAMSAP3_uc002mgv.4_Silent_p.F354F	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	354					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CTCCTGTCTTCACCTTCCGCC	0.652000														81			41		0	0	1	0	0
NUCB2	4925	broad.mit.edu	37	11	17323410	17323410	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17323410C>T	uc001mmw.3	+	4	617	c.372C>T	c.(370-372)tcC>tcT	p.S124S	NUCB2_uc001mms.1_Silent_p.S125S|NUCB2_uc001mmt.1_Silent_p.S124S|NUCB2_uc001mmv.1_Silent_p.S124S|NUCB2_uc009ygz.3_Silent_p.S124S	NM_005013	NP_005004	P80303	NUCB2_HUMAN	Homo sapiens nucleobindin 2 (NUCB2), mRNA.	124						ER-Golgi intermediate compartment|Golgi apparatus|cytosol|extracellular space|plasma membrane	DNA binding|calcium ion binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGTTGGATTCCCTTCAAGGTA	0.378000														64			22		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107022146	107022146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:107022146G>A	uc001kyi.1	+	25	3728	c.3501G>A	c.(3499-3501)atG>atA	p.M1167I		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1167						integral to membrane	neuropeptide receptor activity	p.M1167I(2)|p.E1166D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCAGGAGATGATTGGGTCAG	0.498000														59			27		0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72862289	72862289	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72862289G>A	uc010wrl.2	-	4	687	c.600C>T	c.(598-600)ttC>ttT	p.F200F	FDXR_uc010wri.2_Silent_p.F105F|FDXR_uc010wrj.2_Silent_p.F155F|FDXR_uc002jlw.3_5'UTR|FDXR_uc002jlx.3_Silent_p.F157F|FDXR_uc002jly.3_Silent_p.F157F|FDXR_uc010wrk.2_Silent_p.F188F|FDXR_uc010wrm.2_Silent_p.F117F|FDXR_uc002jlz.3_Silent_p.F149F|FDXR_uc002jmb.3_Non-coding_Transcript	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	157					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					ACCAGCCCACGAAGGCCCGGG	0.652000														114			11		0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205890756	205890756	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205890756G>A	uc001hdp.3	-	16	2107	c.1993C>T	c.(1993-1995)Ctc>Ttc	p.L665F	SLC26A9_uc001hdo.3_Missense_Mutation_p.L333F|SLC26A9_uc001hdq.3_Missense_Mutation_p.L665F	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	665	STAS.					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)			TCCAGGATGAGGGTGTGGAAG	0.647000														19			5		0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52052496	52052496	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:52052496C>T	uc003pak.1	+	1	168	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_002190	NP_002181	Q16552	IL17_HUMAN	Homo sapiens interleukin 17A (IL17A), mRNA.	41					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	p.F41F(2)		endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					ACAAGAACTTCCCCCGGACTG	0.498000														203			16		0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115573981	115573981	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:115573981C>T	uc004eqi.3	+	3	604	c.473C>T	c.(472-474)tCg>tTg	p.S158L	SLC6A14_uc011mtm.2_Non-coding_Transcript	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	158					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	AATTGTTCTTCGTGGTCAGAT	0.303000														34			64		0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57719769	57719770	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:57719769_57719770GG>AA	uc002emh.3	+	10	1574_1575	c.1471_1472GG>AA	c.(1471-1473)ggg>AAg	p.G491K	GPR97_uc010vhv.2_Missense_Mutation_p.G371K|GPR97_uc010cdd.3_Non-coding_Transcript|GPR97_uc010cde.3_Missense_Mutation_p.G99K	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	491					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGTGACATGGGGGTTGGCCATC	0.614000														54			22		0	0	1	0	0
FAM86FP	653113	broad.mit.edu	37	12	8384153	8384153	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8384153G>A	uc010sgk.2	-	4		c.1635C>T								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		TTGGGTCGGGGACCTGGGGTC	0.557000														8			3		0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20216529	20216529	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:20216529G>A	uc003cbu.3	-	5	649	c.494C>T	c.(493-495)cCt>cTt	p.P165L	SGOL1_uc003cbw.3_Intron|SGOL1_uc003cbv.3_Missense_Mutation_p.P165L|SGOL1_uc003cbt.3_Missense_Mutation_p.P165L|SGOL1_uc010hfa.3_Missense_Mutation_p.P165L|SGOL1_uc003cbs.3_Missense_Mutation_p.P165L|SGOL1_uc003cbr.3_Intron|SGOL1_uc003ccc.3_Intron|SGOL1_uc021wtx.1_Missense_Mutation_p.P44L|SGOL1_uc021wty.1_Intron|SGOL1_uc003ccb.3_Missense_Mutation_p.P165L|SGOL1_uc003cca.3_Missense_Mutation_p.P165L|SGOL1_uc003cby.3_Intron|SGOL1_uc003cbx.3_Missense_Mutation_p.P165L|SGOL1_uc003cbz.3_Missense_Mutation_p.P165L	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	165	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TGTGTCTTGAGGAATAGTAGG	0.308000														43			22		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606158	21606158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:21606158C>T	uc003cce.3	-	2	592	c.184G>A	c.(184-186)Gct>Act	p.A62T	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	62						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTTATTACAGCTTTCTGAATC	0.348000														66			26		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238270463	238270463	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:238270463G>A	uc002vwl.2	-	14	6360	c.6075C>T	c.(6073-6075)gcC>gcT	p.A2025A	COL6A3_uc002vwo.2_Silent_p.A1819A|COL6A3_uc010znj.1_Silent_p.A1418A	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2025	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGCTTTCTCGGCAATGTTGT	0.522000														84			23		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204587068	204587068	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204587068G>T	uc021phy.1	-	0	2053	c.2053C>A	c.(2053-2055)Ccc>Acc	p.P685T	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.P685T|LRRN2_uc001hbf.1_Missense_Mutation_p.P685T|LRRN2_uc009xbf.1_Missense_Mutation_p.P685T|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	685					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGGACGAGGGGAGCAGACACA	0.617000														116			39		1.66425e-11	1.67049e-11	1	1	0
SLIT3	6586	broad.mit.edu	37	5	168212924	168212924	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:168212924G>A	uc010jjg.3	-	11	1559	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	SLIT3_uc003mab.3_Missense_Mutation_p.S380F|SLIT3_uc010jji.2_Missense_Mutation_p.S380F|SLIT3_uc003mac.1_Missense_Mutation_p.S177F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	380					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding	p.S380T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCTGTAGGGACACCAGCCC	0.502000														52			20		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64216856	64216856	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:64216856G>A	uc002jfn.4	-	4	479	c.420C>T	c.(418-420)atC>atT	p.I140I		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	140	Sushi 3.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GAGGGCAGATGATGGCTGGGA	0.368000														72			30		0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57407426	57407426	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:57407426C>A	uc004dvc.3	+	6	1109	c.960C>A	c.(958-960)tcC>tcA	p.S320S		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	320						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TTTTAATGTCCAAAGTGGACC	0.303000										HNSCC(52;0.14)				26			49		3.39706e-21	3.41595e-21	1	1	0
OR51G2	81282	broad.mit.edu	37	11	4935978	4935978	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4935978C>T	uc001lzr.1	-	0	916	c.916G>A	c.(916-918)Gat>Aat	p.D306N		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R305Q(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCACTCGATCCCGGATCTGT	0.468000														33			8		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668977	53668977	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53668977G>A	uc010eqm.1	-	3	866	c.766C>T	c.(766-768)Cat>Tat	p.H256Y		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TCTCCAGTATGAATTCTCTGA	0.398000														127			53		0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21624011	21624011	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21624011A>G	uc001rex.3	-	14	2037	c.1689T>C	c.(1687-1689)gcT>gcC	p.A563A	RECQL_uc001rey.3_Silent_p.A563A|PYROXD1_uc001rew.3_3'UTR|PYROXD1_uc009ziq.3_3'UTR	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	563					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TGGTAGCATAAGCTGTAAAAC	0.338000								Other identified genes with known or suspected DNA repair function						76			32		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348598	10348598	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10348598C>T	uc002gmn.3	-	35	5362	c.5251G>A	c.(5251-5253)Gaa>Aaa	p.E1751K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1751					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Q1750H(1)		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						TTGCGGGCTTCCTGGACGATG	0.468000														109			45		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164131	139164131	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:139164131G>A	uc003yuy.3	-	12	2758	c.2587C>T	c.(2587-2589)Cct>Tct	p.P863S	FAM135B_uc003yux.3_Missense_Mutation_p.P764S|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.P425S|FAM135B_uc003yvb.3_Missense_Mutation_p.P425S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	863										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)			CTGCCATCAGGAAGACAGTGT	0.478000										HNSCC(54;0.14)				85			9		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49654524	49654524	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:49654524C>T	uc001jgu.3	-	9	2352	c.2055G>A	c.(2053-2055)agG>agA	p.R685R	ARHGAP22_uc001jgs.3_Silent_p.R579R|ARHGAP22_uc001jgt.3_Silent_p.R669R|ARHGAP22_uc010qgl.2_Silent_p.R626R|ARHGAP22_uc010qgm.2_Silent_p.R675R|ARHGAP22_uc001jgv.3_Silent_p.R367R|ARHGAP22_uc001jgr.3_Silent_p.R386R	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	669					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACAGCTGGTTCCTCCTCTCCG	0.512000														90			47		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49218978	49218978	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:49218978G>A	uc010zyt.2	-	12	1541	c.1290C>T	c.(1288-1290)ggC>ggT	p.G430G	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Silent_p.G426G|FAM65C_uc002xvn.1_Silent_p.G426G	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	426										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						AGGGCAGGAAGCCCACATCTG	0.637000														66			25		0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53516948	53516948	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53516948C>T	uc001sbv.3	+	12	1408	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F	SOAT2_uc009zms.3_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	440					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TCTTCTGCTTCGTCCTGGGGT	0.592000														66			20		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141499573	141499573	+	Silent	SNP	C	T	T	rs56022585		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:141499573C>T	uc011bnd.2	+	1	1054	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	324	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GAATGTGCTTCTGGATGACCT	0.582000														30			22		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69348988	69348988	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:69348988G>A	uc002ars.2	+	15	2291	c.2250G>A	c.(2248-2250)aaG>aaA	p.K750K	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.K704K|NOX5_uc002arp.2_Silent_p.K732K|NOX5_uc010bid.2_Silent_p.K715K|NOX5_uc010bie.2_Silent_p.K550K|NOX5_uc002arr.2_Silent_p.K722K|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	750					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGGTGCTGAAGGGCCATTGTG	0.537000														66			58		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158583514	158583514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158583514C>T	uc001fst.1	-	49	7185	c.6986G>A	c.(6985-6987)gGg>gAg	p.G2329E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2329	EF-hand 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.G2329G(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCCTACCTCCCTGGATCCAC	0.493000														50			35		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63883877	63883878	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63883877_63883878GG>AA	uc021qks.1	+	0	138_139	c.138_139GG>AA	c.(136-141)acggag>acAAag	p.E47K	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.E47K	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	19	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.T46T(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CCTTCCTGACGGAGGTCATCGA	0.639000														35			11		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78069181	78069181	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:78069181G>A	uc010dht.3	+	17	2983	c.2952G>A	c.(2950-2952)aaG>aaA	p.K984K	CCDC40_uc002jxm.4_Silent_p.K767K|CCDC40_uc002jxn.4_Silent_p.K380K	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	984					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGGACAGGAAGGCGCTCACCC	0.627000														55			22		0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181482	128181482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:128181482C>T	uc003ekk.1	-	2	2268	c.607G>A	c.(607-609)Ggg>Agg	p.G203R	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.G203R	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	203					protein folding		heat shock protein binding|unfolded protein binding	p.G203W(2)		kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CGCTCCTGCCCGTTCTCCACG	0.612000														97			43		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20490535	20490535	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:20490535G>A	uc001ytf.1	+	3		c.515G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TGTTGGTAGTGGATCCAAAGG	0.428000														264			37		0	0	1	0	0
PRMT3	10196	broad.mit.edu	37	11	20483679	20483679	+	Missense_Mutation	SNP	C	T	T	rs142036289		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:20483679C>T	uc001mqb.3	+	11	1443	c.1226C>T	c.(1225-1227)cCg>cTg	p.P409L	PRMT3_uc001mqc.3_Missense_Mutation_p.P332L|PRMT3_uc010rdn.2_Missense_Mutation_p.P347L	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	409							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GTTTTAGATCCGAAGACTCTT	0.348000														174			69		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16032908	16032908	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16032908C>T	uc002nbu.2	-	8	1090	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	CYP4F11_uc010eab.1_Missense_Mutation_p.E352K|CYP4F11_uc002nbt.2_Missense_Mutation_p.E352K	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	352					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CGGCACTGTTCCTGGTATTCT	0.522000														52			30		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72346770	72346770	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:72346770C>T	uc002llw.2	+	0	3848	c.3795C>T	c.(3793-3795)ctC>ctT	p.L1265L	ZNF407_uc010xfc.2_Silent_p.L1265L|ZNF407_uc010dqu.2_Silent_p.L1265L|ZNF407_uc002llu.2_Silent_p.L1264L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCCCTGTGCTCGTTGTGACAA	0.567000														29			10		0	0	1	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61908562	61908562	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61908562C>T	uc002yem.3	+	4	460	c.348C>T	c.(346-348)gtC>gtT	p.V116V	ARFGAP1_uc011aas.1_Silent_p.V63V|ARFGAP1_uc011aat.1_Intron|ARFGAP1_uc002yel.3_Silent_p.V116V|ARFGAP1_uc002yen.3_Silent_p.V116V	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA.	116	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	Golgi-associated vesicle membrane|cytosol	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GTCAGGTGGTCGCTCTGGCCG	0.667000														21			10		0	0	1	0	0
HSF2BP	11077	broad.mit.edu	37	21	45012194	45012194	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45012194G>A	uc002zdi.3	-	7	1040	c.708C>T	c.(706-708)tcC>tcT	p.S236S	HSF2BP_uc011aey.2_Silent_p.S161S	NM_007031	NP_008962	O75031	HSF2B_HUMAN	Homo sapiens heat shock transcription factor 2 binding protein (HSF2BP), mRNA.	236					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CATTGTATAGGGACATCAGCA	0.418000														56			21		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80750645	80750645	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:80750645C>T	uc001szd.3	+	47	5949	c.5943C>T	c.(5941-5943)ttC>ttT	p.F1981F	OTOGL_uc021rba.1_5'UTR|OTOGL_uc009zsg.2_5'UTR	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AAGATCAATTCATGATTCAAG	0.348000														24			15		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94353077	94353077	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:94353077G>A	uc003kkx.2	-	1	832	c.832C>T	c.(832-834)Cga>Tga	p.R278*	MCTP1_uc003kkv.2_Nonsense_Mutation_p.R57*|MCTP1_uc003kkw.2_Nonsense_Mutation_p.R57*|MCTP1_uc003kkz.2_Intron	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	278	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTACCTCCTCGATCTCGAGCA	0.413000														124			60		0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91292892	91292892	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:91292892C>T	uc002bpr.3	+	2	491	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	BLM_uc010uqh.2_Missense_Mutation_p.R132W|BLM_uc010uqi.2_5'UTR|BLM_uc010bnx.3_Missense_Mutation_p.R132W	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	132					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AAAGAAATCCCGGGATACTGC	0.388000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					90			13		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220501453	220501453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220501453C>T	uc002vmo.4	+	15	2682	c.2473C>T	c.(2473-2475)Ctc>Ttc	p.L825F	SLC4A3_uc002vmp.4_Missense_Mutation_p.L798F|SLC4A3_uc010fwm.3_Missense_Mutation_p.L348F|SLC4A3_uc010fwn.1_Missense_Mutation_p.L307F	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	798	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGGTTGGTCTCTGGCTGGT	0.622000														87			38		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237791147	237791148	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:237791147_237791148GG>AA	uc001hyl.1	+	40	6327_6328	c.6207_6208GG>AA	c.(6205-6210)tgggct>tgAAct	p.2069_2070WA>*T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2069	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)			TGGTCCGATGGGCTCAGGAGTC	0.495000														25			6		0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64421078	64421078	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:64421078C>T	uc003pep.1	+	13	3842	c.3817C>T	c.(3817-3819)Cgc>Tgc	p.R1273C	PHF3_uc003pen.2_Missense_Mutation_p.R1185C|PHF3_uc011dxs.1_Missense_Mutation_p.R542C	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1273					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTGTGTGGTTCGCTTCACACC	0.323000														31			10		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76900393	76900393	+	Missense_Mutation	SNP	G	A	A	rs111033214		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:76900393G>A	uc001oyb.2	+	27	3780	c.3508G>A	c.(3508-3510)Gag>Aag	p.E1170K	MYO7A_uc010rsm.1_Missense_Mutation_p.E1159K|MYO7A_uc001oyc.2_Missense_Mutation_p.E1170K|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.E381K	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1170	MyTH4 1.		E -> K (in USH1B).		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	p.E1170D(1)		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						GCCCAGGGACGAGATCTACTG	0.642000														49			7		0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661207	4661207	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4661207C>T	uc010qyk.2	+	0	263	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCATCATTCGTGTGGAGAG	0.542000														72			12		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098412	144098412	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:144098412C>T	uc022aoj.1	-	3	571	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	191					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					ATCTTCACCTCTCCCACTGGG	0.607000														12			9		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29562639	29562639	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:29562639C>T	uc002hgg.3	+	27	4102	c.3719C>T	c.(3718-3720)gCt>gTt	p.A1240V	NF1_uc002hgh.3_Missense_Mutation_p.A1240V|NF1_uc010csn.2_Missense_Mutation_p.A1100V|NF1_uc002hgi.1_Missense_Mutation_p.A273V	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1240	Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATGAACTAGCTCGAGTTCTG	0.383000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				205			17		0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68445979	68445979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:68445979C>T	uc002aqz.3	+	6	973	c.880C>T	c.(880-882)Ctt>Ttt	p.L294F	PIAS1_uc010ujx.2_Missense_Mutation_p.L294F	NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	294					JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AACAGTTCTTCTTCAGAGGTT	0.323000														41			29		0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141204	114141204	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:114141204C>T	uc004epu.1	+	5	1331	c.603C>T	c.(601-603)ttC>ttT	p.F201F	HTR2C_uc010nqc.1_Silent_p.F201F|HTR2C_uc004epv.1_Missense_Mutation_p.R170C	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	201					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	AAAAGGTGTTCGTGAACAACA	0.448000														53			70		0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750470	79750470	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:79750470C>T	uc002bew.1	+	1	2056	c.1981C>T	c.(1981-1983)Ccc>Tcc	p.P661S	KIAA1024_uc010unk.1_Missense_Mutation_p.P661S	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	661						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CAGTGCCTCTCCCCGGATGTT	0.527000														132			108		0	0	1	0	0
TMEM44	93109	broad.mit.edu	37	3	194343970	194343970	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:194343970G>A	uc010hzn.3	-	4	801	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S	TMEM44_uc003fuf.3_Missense_Mutation_p.P199S|TMEM44_uc003fue.3_Missense_Mutation_p.P199S|TMEM44_uc011bsv.2_Missense_Mutation_p.P199S|TMEM44_uc003fuh.1_Non-coding_Transcript	NM_001166305	NP_001159777	Q2T9K0	TMM44_HUMAN	Homo sapiens transmembrane protein 44 (TMEM44), transcript variant 3, mRNA.	199						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		GAGAGAGGGGGGATCCGAGAA	0.592000														11			7		0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162875326	162875326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:162875326G>A	uc002ubz.3	-	15	1894	c.1333C>T	c.(1333-1335)Ctc>Ttc	p.L445F	DPP4_uc010fpb.3_Missense_Mutation_p.L121F	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	445					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TCACAACTGAGGCATGTCACT	0.403000														83			32		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77415293	77415293	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77415293C>T	uc004ajl.1	-	16	2353	c.2115G>A	c.(2113-2115)tcG>tcA	p.S705S	TRPM6_uc004ajk.1_Silent_p.S700S|TRPM6_uc022bib.1_Silent_p.S700S|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	705					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TAAGGCAGGTCGAATTGCTCC	0.512000														59			20		0	0	1	0	0
PEF1	553115	broad.mit.edu	37	1	32101117	32101117	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32101117G>A	uc001bth.2	-	1	404	c.31C>T	c.(31-33)Cca>Tca	p.P11S	PEF1_uc021okp.1_5'UTR|PEF1_uc021okq.1_Intron|PEF1_uc001bte.1_5'Flank|PEF1_uc010ogm.2_Missense_Mutation_p.P11S	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN	Homo sapiens penta-EF-hand domain containing 1 (PEF1), transcript variant 1, mRNA.	11					response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		GCAGCTCCTGGGCAGCCCTGC	0.567000														17			8		0	0	1	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021316	142021316	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142021316C>T	uc011krr.1	+	1	481	c.296C>T	c.(295-297)aCc>aTc	p.T99I	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Missense_Mutation_p.T99I					SubName: Full=V_segment translation product; Flags: Fragment;																		AATGTGAGCACCTTGGAGCTG	0.522000														71			14		0	0	1	0	0
MRPL49	740	broad.mit.edu	37	11	64893018	64893018	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64893018C>T	uc001oda.2	+	2	391	c.288C>T	c.(286-288)gtC>gtT	p.V96V	MRPL49_uc021qle.1_Non-coding_Transcript|MRPL49_uc021qlf.1_Silent_p.V34V	NM_004927	NP_004918	Q13405	RM49_HUMAN	Homo sapiens mitochondrial ribosomal protein L49 (MRPL49), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	96					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	p.V96I(1)		endometrium(1)|ovary(1)	2						ACATCCCCGTCTACAAGGACA	0.552000														82			23		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72297607	72297607	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72297607G>A	uc001jrd.4	+	10	1549	c.1268G>A	c.(1267-1269)tGg>tAg	p.W423*	KIAA1274_uc001jre.4_5'Flank	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	423										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						AGGGCGCTGTGGAGCCTGGAG	0.607000														76			20		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93979219	93979219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:93979219C>T	uc003poe.3	-	6	1850	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	EPHA7_uc003pof.3_Missense_Mutation_p.E537K|EPHA7_uc011eac.2_Missense_Mutation_p.E537K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	537						integral to plasma membrane	ATP binding|ephrin receptor activity	p.E537K(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCTGTAGCTTCCTCTAGTGTA	0.363000														59			34		0	0	1	0	0
ADRA1D	146	broad.mit.edu	37	20	4228965	4228965	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:4228965C>T	uc002wkr.2	-	0	695	c.640G>A	c.(640-642)Gcc>Acc	p.A214T		NM_000678	NP_000669	P25100	ADA1D_HUMAN	Homo sapiens adrenergic, alpha-1D-, receptor (ADRA1D), mRNA.	214					DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	AGGATGGCGGCCGCCTTGCGC	0.687000														6			4		0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	170008397	170008397	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:170008397G>A	uc001ggv.3	-	3	623	c.352C>T	c.(352-354)Cca>Tca	p.P118S	KIFAP3_uc021pep.1_Missense_Mutation_p.P78S|KIFAP3_uc010ply.2_Missense_Mutation_p.P40S|KIFAP3_uc001ggw.2_Missense_Mutation_p.P74S	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN	Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.	118					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAAGGAGGTGGATCTTTAGGC	0.313000														22			12		0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4073527	4073527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:4073527C>T	uc003mvx.3	-	5	690	c.284G>A	c.(283-285)gGa>gAa	p.G95E	FAM217A_uc010jnq.1_Non-coding_Transcript|FAM217A_uc003mvy.3_Missense_Mutation_p.G32E	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.	95																	TATGGTACTTCCTTCATTAAG	0.299000														106			8		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32041710	32041710	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32041710G>A	uc003nzl.2	-	11	4597	c.4395C>T	c.(4393-4395)acC>acT	p.T1465T		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1552	Fibronectin type-III 7.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGCTGGAGGGGTCTCTTCTT	0.522000														13			9		0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62376529	62376529	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62376529G>A	uc010rly.1	-	6	1142	c.834C>T	c.(832-834)gcC>gcT	p.A278A	EML3_uc001ntr.1_Silent_p.A250A|EML3_uc001nts.1_Silent_p.A250A|EML3_uc001ntt.1_Silent_p.A162A|EML3_uc001ntu.1_Silent_p.A278A|EML3_uc009yny.1_Silent_p.A61A			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	278						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCACCACACAGGCGATAAAGT	0.607000														185			70		0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6966849	6966849	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6966849C>T	uc001qri.4	+	6	885	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L	USP5_uc001qrh.4_Silent_p.L276L	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	276					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GGCTGAGCACCTGTCCCACTT	0.547000														98			43		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68643118	68643118	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:68643118G>A	uc010bib.3	-	8	984	c.897C>T	c.(895-897)gtC>gtT	p.V299V	ITGA11_uc002ari.3_Silent_p.V299V	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	299	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AGTAGCCCAGGACCTGCCAGG	0.527000														71			49		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834305	101834305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:101834305C>T	uc003knn.3	-	0	416	c.244G>A	c.(244-246)Gat>Aat	p.D82N	SLCO6A1_uc003kno.3_Missense_Mutation_p.D82N|SLCO6A1_uc003knp.3_Missense_Mutation_p.D82N|SLCO6A1_uc003knq.3_Missense_Mutation_p.D82N	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	82						integral to membrane|plasma membrane	transporter activity	p.D82H(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAACTGTCATCCACTTCTCCC	0.493000														114			53		0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25014056	25014056	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:25014056C>T	uc003grf.2	-	6	820	c.721G>A	c.(721-723)Gat>Aat	p.D241N		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	241						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				ACGTACACATCGTTCTTGGAG	0.468000														84			26		0	0	1	0	0
GPR21	2844	broad.mit.edu	37	9	125797634	125797634	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125797634C>T	uc011lzk.2	+	0	789	c.789C>T	c.(787-789)atC>atT	p.I263I	RABGAP1_uc004bnl.4_Intron|RABGAP1_uc011lzh.2_Intron|RABGAP1_uc011lzj.2_Intron|GPR21_uc011lzi.2_Non-coding_Transcript	NM_005294	NP_005285	Q99679	GPR21_HUMAN	Homo sapiens G protein-coupled receptor 21 (GPR21), mRNA.	263						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						TATTTTACATCCTCTGGTTGC	0.507000														160			10		0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30671904	30671904	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:30671904G>A	uc003tbm.3	+	15	2302	c.1945G>A	c.(1945-1947)Gat>Aat	p.D649N		NM_002047	NP_002038	P41250	SYG_HUMAN	Homo sapiens glycyl-tRNA synthetase (GARS), mRNA.	649					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CAAAGTAGACGATTCCTCTGG	0.448000														72			26		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40713344	40713344	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:40713344C>T	uc002xkg.3	-	28	4298	c.4114G>A	c.(4114-4116)Gga>Aga	p.G1372R	PTPRT_uc010ggj.3_Missense_Mutation_p.G1391R|PTPRT_uc010ggi.3_Missense_Mutation_p.G575R	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1372	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACAGTACGTCCCTCCCTCCCG	0.607000														31			8		0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139113755	139113755	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139113755G>A	uc010nbi.2	-	5	746	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.	236					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GGGTCACCACGATGCTTTCAT	0.512000														74			27		0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52999086	52999086	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:52999086C>T	uc003pbp.3	-	2	321	c.112G>A	c.(112-114)Gat>Aat	p.D38N	GCM1_uc010jzr.2_Missense_Mutation_p.D38N	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	38						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GCATAGGAATCTGGCCACTCC	0.493000														107			9		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43606197	43606198	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:43606197_43606198GG>AA	uc003bdt.2	-	18	2559_2560	c.2432_2433CC>TT	c.(2431-2433)tcc>tTT	p.S811F		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	811	CUB.				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GGTAGTTGGGGGACTCGATGTA	0.653000														34			15		0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85992447	85992447	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:85992447C>T	uc001kcz.1	-	3	1130	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	370						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCAGCAGCTTCCCCTCCGCCA	0.577000														16			6		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66460536	66460536	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:66460536C>T	uc021xzk.1	+	28	5837	c.5529C>T	c.(5527-5529)ctC>ctT	p.L1843L	MAST4_uc003jut.2_Silent_p.L1654L|MAST4_uc003juw.3_Silent_p.L1582L|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1846						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CACCAGTTCTCCCCAGCAGCA	0.557000														53			21		0	0	1	0	0
PPM1M	132160	broad.mit.edu	37	3	52283280	52283280	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52283280G>A	uc011bed.2	+	8	1209	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	PPM1M_uc003ddf.4_Missense_Mutation_p.E232K|PPM1M_uc003ddg.4_Missense_Mutation_p.E181K|PPM1M_uc003ddh.4_Missense_Mutation_p.E103K	NM_144641	NP_653242	Q96MI6	PPM1M_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1M (PPM1M), transcript variant 1, mRNA.	232					protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		ACTGTCCAACGAGCAGGTGGC	0.577000														22			5		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169696610	169696610	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169696610C>T	uc001ggm.4	-	9	1682	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	509	Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AACACGGGCTCCCCACTGCAG	0.522000														47			16		0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29365268	29365268	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29365268G>A	uc003nmf.4	+	0	853	c.792G>A	c.(790-792)gaG>gaA	p.E264E		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E264D(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CTGCGTTAGAGAGCTTCATGG	0.458000														163			70		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347331	89347331	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89347331G>A	uc002fmx.1	-	8	6080	c.5619C>T	c.(5617-5619)gtC>gtT	p.V1873V	ANKRD11_uc002fmy.1_Silent_p.V1873V|ANKRD11_uc002fnc.1_Silent_p.V1873V|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.V1830V	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1873	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGGTGACAGTGACAACGGCAG	0.612000														60			21		0	0	1	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198492560	198492560	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:198492560C>T	uc009wzd.3	-	3	371	c.336G>A	c.(334-336)atG>atA	p.M112I	ATP6V1G3_uc001gup.3_Missense_Mutation_p.M106I|ATP6V1G3_uc001guo.3_3'UTR	NM_133262	NP_573569	Q96LB4	VATG3_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 (ATP6V1G3), transcript variant 1, mRNA.	106					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TTTCTGGTTTCATGTCACAGA	0.398000														30			8		0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206225182	206225182	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:206225182G>A	uc001hds.2	+	0	900	c.742G>A	c.(742-744)Gac>Aac	p.D248N		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	248					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GAGGACTTGGGACAGGCCCTC	0.592000														84			35		0	0	1	0	0
TIFAB	497189	broad.mit.edu	37	5	134785187	134785187	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:134785187C>T	uc003law.4	-	1	644	c.443G>A	c.(442-444)tGg>tAg	p.W148*	C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Nonsense_Mutation_p.W148*	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.	148								p.E147Q(1)		breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATGCCTTCCCATTCGTCAGT	0.582000														75			32		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176787	140176787	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140176787G>A	uc003lhd.2	+	0	2344	c.2238G>A	c.(2236-2238)ggG>ggA	p.G746G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.G746G|PCDHAC2_uc011czy.2_Silent_p.G746G	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	783					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)			GCGCCGTGGGGAGCTGGTCTT	0.672000														67			35		0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157771398	157771398	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:157771398C>T	uc003iph.2	-	1	780	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	PDGFC_uc003ipi.2_5'UTR|PDGFC_uc011cis.2_Intron|PDGFC_uc011cir.2_5'UTR	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	97	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TCTGGGTCTTCAAGCCCAAAT	0.348000														57			19		0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183191281	183191281	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:183191281C>T	uc001gqa.2	+	5	1012	c.698C>T	c.(697-699)tCa>tTa	p.S233L	LAMC2_uc001gpz.4_Missense_Mutation_p.S233L|LAMC2_uc010poa.2_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	233	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						CTCCAATGGTCACAGCGCCAT	0.488000														115			34		0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31654358	31654358	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31654358G>A	uc003akh.3	+	2	343	c.198G>A	c.(196-198)ggG>ggA	p.G66G	LIMK2_uc003aki.3_Intron|LIMK2_uc003akj.3_Silent_p.G45G|LIMK2_uc003akk.3_Silent_p.G45G|LIMK2_uc011aln.2_5'UTR	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	66						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						ACTACTGGGGGAAGTTTGGGG	0.512000														56			41		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119097170	119097170	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:119097170C>T	uc004bjn.3	+	12	3809	c.3428C>T	c.(3427-3429)cCc>cTc	p.P1143L	PAPPA_uc011lxp.1_Missense_Mutation_p.P838L|PAPPA_uc011lxq.2_Missense_Mutation_p.P518L	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1143					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						AGGAACAATCCCCTGATTATC	0.632000														52			12		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120373013	120373013	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:120373013C>T	uc003vjj.1	+	1	2137	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	391					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.S391S(1)		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)					TCTATCTGTTCGCTGAGTGGG	0.418000														74			25		0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64335111	64335111	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64335111C>T	uc001oai.3	+	6	1473	c.1099C>T	c.(1099-1101)Ctg>Ttg	p.L367L	SLC22A11_uc009ypq.3_Intron	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	367					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	GGTCTTCGACCTGCAGAGCCT	0.632000														133			62		0	0	1	0	0
FKBP2	2286	broad.mit.edu	37	11	64010707	64010708	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64010707_64010708CT>TC	uc001nyy.3	+	2	404_405	c.208_209CT>TC	c.(208-210)ctg>TCg	p.L70S	FKBP2_uc010rnh.2_Missense_Mutation_p.L70S|FKBP2_uc001nyz.3_Missense_Mutation_p.L70S	NM_004470	NP_476433	P26885	FKBP2_HUMAN	Homo sapiens FK506 binding protein 2, 13kDa (FKBP2), transcript variant 1, mRNA.	70	PPIase FKBP-type.				protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(2)|lung(3)	5						TGACAGCAGCCTGCCCCAGAAC	0.619000														56			7		0	0	1	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14950960	14950960	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:14950960G>A	uc001inn.3	-	13	1611	c.1526C>T	c.(1525-1527)tCc>tTc	p.S509F	DCLRE1C_uc010qbx.2_Intron|DCLRE1C_uc001ink.3_Missense_Mutation_p.S162F|DCLRE1C_uc001inl.3_Missense_Mutation_p.S389F|DCLRE1C_uc001inr.3_Missense_Mutation_p.S394F|DCLRE1C_uc009xji.3_Missense_Mutation_p.S394F|DCLRE1C_uc001inm.3_Missense_Mutation_p.S389F|DCLRE1C_uc001ino.3_Missense_Mutation_p.S394F|DCLRE1C_uc009xjh.3_Non-coding_Transcript|DCLRE1C_uc001inp.3_Missense_Mutation_p.S389F|DCLRE1C_uc001inq.3_Missense_Mutation_p.S389F|DCLRE1C_uc021pni.1_Missense_Mutation_p.S394F	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	Homo sapiens DNA cross-link repair 1C (DCLRE1C), transcript variant a, mRNA.	509					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CACTGTGGAGGAAGGGAAGTT	0.458000								Non-homologous end-joining						36			13		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57333046	57333046	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57333046G>A	uc002qnu.2	-	3	993	c.642C>T	c.(640-642)gaC>gaT	p.D214D	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Silent_p.D89D|PEG3_uc010etp.2_Silent_p.D89D|PEG3_uc010ygs.1_Silent_p.D89D|PEG3_uc002qnq.2_Silent_p.D89D|PEG3_uc002qnt.2_Silent_p.D215D|PEG3_uc002qnv.2_Silent_p.D214D|PEG3_uc002qnw.2_Silent_p.D89D|PEG3_uc002qnx.2_Silent_p.D88D|PEG3_uc010etr.2_Silent_p.D214D	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	214					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R213M(1)|p.R213R(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAGCCCTGGAGTCCCTGTCGT	0.507000														148			64		0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203621974	203621974	+	Silent	SNP	C	T	T	rs140222767		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:203621974C>T	uc010zhx.2	+	5	1153	c.1143C>T	c.(1141-1143)ccC>ccT	p.P381P		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	381										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CTCCACCCCCCCTTGTACAGA	0.493000														45			18		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349594	100349594	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100349594C>T	uc003uwj.3	+	13	2031	c.1866C>T	c.(1864-1866)ccC>ccT	p.P622P	ZAN_uc003uwk.3_Silent_p.P622P|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	622	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACCATTCCCTCAGAAAAAC	0.473000														90			44		0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49685891	49685891	+	Silent	SNP	C	T	T	rs145772095		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49685891C>T	uc002pmw.3	+	10	1428	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F	TRPM4_uc010emu.3_Silent_p.F440F|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Silent_p.F266F|TRPM4_uc010emv.3_Silent_p.F325F|TRPM4_uc010yal.2_Silent_p.F86F|TRPM4_uc002pmy.3_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	440					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGCCTGAGTTCGTGCGCTTGC	0.607000														71			7		0	0	1	0	0
TBK1	29110	broad.mit.edu	37	12	64854024	64854024	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:64854024C>T	uc001ssc.2	+	2	302	c.143C>T	c.(142-144)cCa>cTa	p.P48L		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	Homo sapiens TANK-binding kinase 1 (TBK1), mRNA.	48	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TTCCTTCGTCCAGTGGATGTT	0.269000														62			32		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031217	33031217	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:33031217G>A	uc001rlj.4	-	2	712	c.597C>T	c.(595-597)atC>atT	p.I199I	PKP2_uc001rlk.4_Silent_p.I199I|PKP2_uc010skj.2_Silent_p.I199I	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	199					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.I199I(2)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGACCCCCACGATCTCGGAAC	0.597000														53			18		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106478215	106478215	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106478215G>A	uc021ser.1	-	2451		c.42858C>T								Parts of antibodies, mostly variable regions.																		GACTCTTGAGGGAGGGGTTGT	0.572000														98			11		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32800019	32800019	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:32800019C>T	uc001utx.3	+	38	5610	c.5114C>T	c.(5113-5115)tCc>tTc	p.S1705F	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AATTTCCATTCCATTGCTTCC	0.483000														90			47		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66947101	66947101	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:66947101C>T	uc002eql.3	-	8	1181	c.987G>A	c.(985-987)gaG>gaA	p.E329E	CDH16_uc010cdy.3_Silent_p.E329E|CDH16_uc021tjx.1_Silent_p.E329E|CDH16_uc002eqm.3_Silent_p.E232E	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	329	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CGTTGTCATTCTCATCCATCA	0.612000														136			14		0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24653942	24653942	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24653942G>A	uc001wmv.1	-	15	2571	c.1550C>T	c.(1549-1551)cCc>cTc	p.P517L	IPO4_uc001wmt.1_5'UTR|IPO4_uc001wmu.2_Missense_Mutation_p.P179L|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Missense_Mutation_p.P381L|IPO4_uc001wmy.1_Missense_Mutation_p.P381L|IPO4_uc001wmz.2_Missense_Mutation_p.P517L	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	517					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AGGGAAGTAGGGCAGCAGCGA	0.612000														18			11		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739693	62739693	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62739693C>T	uc001dah.4	-	2	1460	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	361										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTGCCAGTTCCTCGGTTCTTC	0.567000														103			25		0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107646739	107646739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107646739G>A	uc004bcl.3	-	3	675	c.271C>T	c.(271-273)Ccc>Tcc	p.P91S	ABCA1_uc004bcm.3_Missense_Mutation_p.P31S	NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	91					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACAACTCCGGGAGCCTCCCCA	0.453000														61			18		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98592348	98592348	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:98592348C>T	uc003upp.3	+	65	10353	c.10144C>T	c.(10144-10146)Ctg>Ttg	p.L3382L	TRRAP_uc011kis.2_Silent_p.L3353L|TRRAP_uc003upr.3_Silent_p.L3088L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3382					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGGGTGGGCCTGGAGAATGT	0.567000														192			86		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451141	155451141	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:155451141G>A	uc003qqb.3	+	5	2057	c.784G>A	c.(784-786)Gag>Aag	p.E262K	TIAM2_uc003qqe.3_Missense_Mutation_p.E262K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	262					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGAGCTGAGCGAGGCTGAGGG	0.617000														41			34		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2705044	2705044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2705044C>T	uc009zdu.1	+	19	2981	c.2668C>T	c.(2668-2670)Cgc>Tgc	p.R890C	CACNA1C_uc001qkc.2_Missense_Mutation_p.R890C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R890C|CACNA1C_uc001qke.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R890C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R890C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkj.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkk.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkm.2_Missense_Mutation_p.R890C|CACNA1C_uc001qko.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R890C|CACNA1C_uc001qku.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R890C|CACNA1C_uc001qks.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R890C|CACNA1C_uc009zdv.1_Missense_Mutation_p.R887C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R890C|CACNA1C_uc001qka.1_Missense_Mutation_p.R425C|CACNA1C_uc001qki.1_Missense_Mutation_p.R626C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	890					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTACAGGTTTCGCCTCCAGTG	0.582000														80			34		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110451248	110451248	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:110451248G>A	uc001pkz.1	-	15	2707	c.2422C>T	c.(2422-2424)Cct>Tct	p.P808S	ARHGAP20_uc001pky.1_Missense_Mutation_p.P785S|ARHGAP20_uc009yyb.1_Missense_Mutation_p.P772S|ARHGAP20_uc001pla.1_Missense_Mutation_p.P772S|ARHGAP20_uc001plb.2_Missense_Mutation_p.P351S	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	808					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GAGGACATAGGACTATAAGAT	0.458000														106			44		0	0	1	0	0
PTGIR	5739	broad.mit.edu	37	19	47124807	47124807	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47124807C>T	uc002pex.3	-	2	1004	c.891G>A	c.(889-891)aaG>aaA	p.K297K		NM_000960	NP_000951	P43119	PI2R_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) receptor (IP) (PTGIR), mRNA.	297					G-protein signaling, coupled to cyclic nucleotide second messenger|cell-cell signaling|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GGAAGACAGCCTTGCGGAAAA	0.632000														81			7		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207785317	207785317	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207785317C>T	uc001hfy.3	+	30	5296	c.5156C>T	c.(5155-5157)cCt>cTt	p.P1719L	CR1_uc001hfx.3_Missense_Mutation_p.P2169L|CR1_uc021pij.1_Missense_Mutation_p.P1719L	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1719	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.P2169L(1)|p.P1724L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGCCAACTCCCTCATGGCCGT	0.483000														408			30		0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380486	56380486	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56380486G>A	uc001nja.1	-	0	493	c.493C>T	c.(493-495)Cac>Tac	p.H165Y	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	165					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						AAGGATAAGTGAAAGGTTAGC	0.463000														48			15		0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25223432	25223432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:25223432C>T	uc021sgb.1	+	6	1703	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	SNRPN_uc001ywp.1_Missense_Mutation_p.P218S|SNRPN_uc001ywq.1_Missense_Mutation_p.P218S|SNRPN_uc001ywr.1_Missense_Mutation_p.P218S|SNRPN_uc001yws.1_Missense_Mutation_p.P218S|SNRPN_uc001ywt.1_Missense_Mutation_p.P218S|SNRPN_uc001ywy.1_Missense_Mutation_p.P218S|SNRPN_uc001ywz.1_Non-coding_Transcript|SNRPN_uc001yxa.1_Intron|SNRPN_uc021sga.1_Missense_Mutation_p.P218S	NM_022808	NP_073719	P63162	RSMN_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 5, mRNA.	218	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CATGCCGCCTCCGGGAATGAG	0.572000									Prader-Willi syndrome					150			47		0	0	1	0	0
TCTN1	79600	broad.mit.edu	37	12	111057732	111057732	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:111057732C>T	uc001trn.4	+	1	468	c.312C>T	c.(310-312)gtC>gtT	p.V104V	TCTN1_uc010syb.2_Silent_p.V104V|TCTN1_uc010syc.2_Non-coding_Transcript|TCTN1_uc009zvs.3_Silent_p.V104V|TCTN1_uc001trm.3_Silent_p.V44V|TCTN1_uc001trp.4_Silent_p.V104V|TCTN1_uc001tri.3_Silent_p.V48V|TCTN1_uc001trj.2_Silent_p.V48V|TCTN1_uc001trk.4_Non-coding_Transcript	NM_001082538	NP_001076007	Q2MV58	TECT1_HUMAN	Homo sapiens tectonic family member 1 (TCTN1), transcript variant 1, mRNA.	104					multicellular organismal development	extracellular region		p.S103I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						ATTTCAGTGTCTTTTCTGCCT	0.438000														113			38		0	0	1	0	0
SLC45A2	51151	broad.mit.edu	37	5	33964098	33964098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:33964098G>A	uc003jid.3	-	2	678	c.586C>T	c.(586-588)Ctt>Ttt	p.L196F	SLC45A2_uc003jie.3_Missense_Mutation_p.L196F|SLC45A2_uc003jif.4_Intron|SLC45A2_uc011coe.1_Intron	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA.	196					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GCACCCAAAAGGTAACCCAGG	0.458000														28			8		0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8221758	8221758	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:8221758G>A	uc002glc.3	+	9	1913	c.1758G>A	c.(1756-1758)aaG>aaA	p.K586K	ARHGEF15_uc002gld.3_Silent_p.K586K|ARHGEF15_uc010vuw.2_Silent_p.K475K	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	586	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						ATGCCCAGAAGGCCCTGGGTG	0.632000														48			45		0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271300	59271300	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59271300C>T	uc001noa.1	+	0	252	c.252C>T	c.(250-252)gaC>gaT	p.D84D		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TCTTGCTGGACCTTCTGTCAA	0.478000														241			92		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325048	57325048	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57325048C>T	uc002qnu.2	-	6	5113	c.4762G>A	c.(4762-4764)Ggc>Agc	p.G1588S	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1559S|PEG3_uc002qnv.2_Missense_Mutation_p.G1588S|PEG3_uc002qnw.2_Missense_Mutation_p.G1464S|PEG3_uc002qnx.2_Missense_Mutation_p.G1462S|PEG3_uc010etr.2_Missense_Mutation_p.G1588S|PEG3-AS1_uc010ets.2_Non-coding_Transcript	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1588					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGCCCTCAGCCAGTGTGGGTA	0.493000														41			10		0	0	1	0	0
WDR86	349136	broad.mit.edu	37	7	151097249	151097249	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:151097249C>T	uc011kvk.1	-	1	691	c.242G>A	c.(241-243)aGg>aAg	p.R81K	WDR86_uc003wka.2_Missense_Mutation_p.R39K|WDR86_uc003wkb.2_Missense_Mutation_p.R81K|WDR86_uc003wkc.2_5'UTR			Q86TI4	WDR86_HUMAN	Homo sapiens WD repeat domain 86 (WDR86), mRNA.	81										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACGTCCCACCTCCTGATGGT	0.607000														15			6		0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6094294	6094294	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:6094294G>A	uc003spp.3	-	1	306	c.160C>T	c.(160-162)Cta>Tta	p.L54L	EIF2AK1_uc003spq.3_Silent_p.L54L|EIF2AK1_uc011jwm.1_5'UTR	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 1 (EIF2AK1), transcript variant 1, mRNA.	54					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GGCTGTTGTAGGGGTTCTTTT	0.393000														140			42		0	0	1	0	0
GFOD2	81577	broad.mit.edu	37	16	67709604	67709604	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67709604G>A	uc002eub.3	-	2	907	c.612C>T	c.(610-612)ttC>ttT	p.F204F	GFOD2_uc002euc.3_Silent_p.F99F|GFOD2_uc002eua.1_Non-coding_Transcript	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 2 (GFOD2), transcript variant 1, mRNA.	204						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TCTGCCTCACGAATGTCTTGA	0.612000														72			7		0	0	1	0	0
CRY1	1407	broad.mit.edu	37	12	107393622	107393622	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:107393622G>A	uc001tmi.3	-	6	1703	c.844C>T	c.(844-846)Cct>Tct	p.P282S		NM_004075	NP_004066	Q16526	CRY1_HUMAN	Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.	282	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA photolyase activity|blue light photoreceptor activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						GAAAGGGGAGGGGAACTGTTC	0.333000														49			25		0	0	1	0	0
ZDHHC3	51304	broad.mit.edu	37	3	44974644	44974644	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:44974644G>A	uc003cod.3	-	4	850	c.576C>T	c.(574-576)ttC>ttT	p.F192F	ZDHHC3_uc003cog.3_Silent_p.F192F|ZDHHC3_uc021wws.1_Silent_p.F40F	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN	Homo sapiens zinc finger, DHHC-type containing 3 (ZDHHC3), transcript variant 2, mRNA.	192						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GCAGGAAGTGGAATCCCACCA	0.522000														71			19		0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47117396	47117396	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:47117396C>T	uc002iom.3	+	6	1095	c.761C>T	c.(760-762)tCc>tTc	p.S254F	IGF2BP1_uc010dbj.3_Intron	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	254	KH 1.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GAGGGCTGCTCCTCCGCTTGT	0.517000														67			56		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152536101	152536101	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:152536101C>T	uc021zhb.1	-	119	22509	c.22286G>A	c.(22285-22287)aGa>aAa	p.R7429K	SYNE1_uc003qos.4_Missense_Mutation_p.R1953K|SYNE1_uc003qot.4_Missense_Mutation_p.R7358K|SYNE1_uc003qou.4_Missense_Mutation_p.R7429K|SYNE1_uc003qor.4_Missense_Mutation_p.R329K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7429					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTCTGCATTCTTTTGATTTC	0.413000										HNSCC(10;0.0054)				80			66		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117403124	117403125	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:117403124_117403125GG>AA	uc001prh.1	-	3	806_807	c.804_805CC>TT	c.(802-807)acccgg>acTTgg	p.R269W	DSCAML1_uc001pri.1_Missense_Mutation_p.R73W	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	209	Ig-like C2-type 3.				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	p.T268I(1)		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)		TTGCTCTGCCGGGTCTCCCCGC	0.614000														75			9		0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110714215	110714215	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:110714215G>A	uc003puc.3	-	4	877	c.873C>T	c.(871-873)ccC>ccT	p.P291P	METTL24_uc003pub.2_Intron|DDO_uc003pud.3_Silent_p.P232P	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	263					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CGTGGAGGGAGGGCTCCAGAG	0.572000														102			57		0	0	1	0	0
DDX58	23586	broad.mit.edu	37	9	32500834	32500834	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:32500834G>A	uc003zra.3	-	1	368	c.210C>T	c.(208-210)ttC>ttT	p.F70F	DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mjk.1_Intron|DDX58_uc011lnr.1_5'UTR|DDX58_uc010mji.3_5'UTR	NM_014314	NP_055129	O95786	DDX58_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.	70	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		AAAAGCCACGGAACCAGCCTT	0.443000														74			43		0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160905242	160905242	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:160905242G>A	uc003qtj.2	-	5		c.886C>T			LPAL2_uc011efy.2_Non-coding_Transcript					Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GCCTTCCACAGGATCTGGATT	0.512000														43			33		0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5867474	5867474	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:5867474G>A	uc002mdo.4	-	1	434	c.263C>T	c.(262-264)cCc>cTc	p.P88L	FUT5_uc010duo.3_Missense_Mutation_p.P88L|FUT5_uc021uno.1_Missense_Mutation_p.P88L	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	88					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						CAGAGCCACGGGTGTGTTAAA	0.662000														74			9		0	0	1	0	0
KBTBD11	9920	broad.mit.edu	37	8	1950790	1950790	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:1950790G>A	uc022aqq.1	+	0	1432	c.1432G>A	c.(1432-1434)Gac>Aac	p.D478N	KBTBD11_uc003wpw.4_Missense_Mutation_p.D478N	NM_014867	NP_055682	O94819	KBTBB_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 11 (KBTBD11), mRNA.	478										lung(1)|pancreas(1)	2		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134)		CCCGCGGCGCGACGAGTGGCA	0.682000														20			5		0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30732918	30732918	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30732918C>T	uc002wxj.2	+	6	912	c.677C>T	c.(676-678)tCg>tTg	p.S226L	TM9SF4_uc010ztr.1_Missense_Mutation_p.S152L|TM9SF4_uc010zts.1_Missense_Mutation_p.S133L|TM9SF4_uc002wxk.2_Missense_Mutation_p.S209L	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	226						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGAAGAGTTCGTGCACTCTG	0.562000														52			23		0	0	1	0	0
ZNF296	162979	broad.mit.edu	37	19	45579435	45579435	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45579435G>A	uc002pao.3	-	0	254	c.197C>T	c.(196-198)cCc>cTc	p.P66L		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	Homo sapiens zinc finger protein 296 (ZNF296), mRNA.	66					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GGAGTGGTGGGGTTCGCCGCC	0.741000														17			3		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83636688	83636688	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:83636688G>A	uc003uhz.3	-	9	1436	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	374	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCGTGGATAGGGGACTCTTCC	0.423000														112			44		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539917	120539917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:120539917G>A	uc001eik.3	-	3	751	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	NOTCH2_uc001eil.3_Missense_Mutation_p.P152S|NOTCH2_uc021osy.1_Missense_Mutation_p.P113S|NOTCH2_uc001eim.4_Missense_Mutation_p.P69S	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	152	EGF-like 4.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGCACAGGGATGAGACAGG	0.498000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					131			33		0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	89998001	89998001	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:89998001G>A	uc001tbh.3	-	14	2746	c.2565C>T	c.(2563-2565)ttC>ttT	p.F855F	ATP2B1_uc001tbg.3_Silent_p.F855F|ATP2B1_uc001tbf.3_Silent_p.F525F	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	855					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GGAACTGAAGGAATTTTGAGA	0.383000														52			22		0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149073664	149073664	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:149073664C>T	uc003ilj.4	-	5	2829	c.2466G>A	c.(2464-2466)acG>acA	p.T822T	NR3C2_uc003ilk.4_Silent_p.T705T|NR3C2_uc010iph.3_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	822	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.T822T(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ATTGGCTGTTCGTATGTTTGT	0.363000														73			27		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97466366	97466366	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:97466366C>T	uc010how.1	+	16	3271	c.3228C>T	c.(3226-3228)ttC>ttT	p.F1076F	EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	981						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						AGAATAACTTCGTGGCAGCAG	0.423000														16			12		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21328024	21328024	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:21328024C>T	uc002kuq.3	+	3	651	c.565_splice	c.e3+1	p.H189_splice	LAMA3_uc010dlv.2_Splice_Site_p.H189_splice|LAMA3_uc002kur.3_Splice_Site_p.H189_splice	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	189	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.H189N(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATATTTTGCTCGTAAGTAATC	0.373000														63			27		0	0	1	0	0
ELL	8178	broad.mit.edu	37	19	18572511	18572511	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18572511G>A	uc002njh.3	-	4	693	c.621C>T	c.(619-621)ttC>ttT	p.F207F	ELL_uc010ebq.3_Silent_p.F150F|ELL_uc002njg.3_Silent_p.F74F	NM_006532	NP_006523	P55199	ELL_HUMAN	Homo sapiens elongation factor RNA polymerase II (ELL), mRNA.	207					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CTCGGTCACGGAAGGGCCTCT	0.672000			T	MLL	AL						OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			14		0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39087490	39087490	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:39087490G>A	uc001rls.1	-	14	1196	c.1112C>T	c.(1111-1113)cCa>cTa	p.P371L	CPNE8_uc001rlr.1_Missense_Mutation_p.P30L	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	371	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CCTTCCATCTGGAGGCAGTTT	0.348000														133			19		0	0	1	0	0
TREML1	340205	broad.mit.edu	37	6	41121799	41121799	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:41121799C>T	uc011duc.2	-	1	117	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	TREML1_uc003opx.3_Missense_Mutation_p.V25M|TREML1_uc011dud.2_Intron	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 1 (TREML1), mRNA.	25	Ig-like V-type.				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCTGCAGCACCTCAGGGAGG	0.612000														38			11		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233150438	233150438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233150438C>T	uc001hvl.2	-	27	5160	c.4925G>A	c.(4924-4926)gGa>gAa	p.G1642E	PCNXL2_uc001hvk.1_Missense_Mutation_p.G294E|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1642						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)				AGCGGCTGTTCCCAGAGCTCT	0.527000														61			23		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	25353	25353	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000209.1:25353G>A	uc002qts.2	+	3	100	c.71_splice	c.e3-1	p.G24_splice	KIR2DL2_uc002qtt.2_Splice_Site_p.G24_splice	NM_014219	NP_055034	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 (KIR2DL2), mRNA.	24					regulation of immune response	integral to membrane|plasma membrane	receptor activity										TCTCTTCCTAGGAGTCCACAG	0.507000														34			42		0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298516	107298516	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107298516G>A	uc004bcb.1	-	0	579	c.579C>T	c.(577-579)gcC>gcT	p.A193A		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A193S(1)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GCAGTCTCATGGCAAGTAATG	0.433000														114			53		0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35478634	35478634	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:35478634G>A	uc003anj.3	+	1	1304	c.353G>A	c.(352-354)aGg>aAg	p.R118K		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	118						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CTGGCAGCCAGGATCAACCTC	0.572000														59			17		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39871208	39871208	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39871208G>A	uc010lwy.1	+	9	1125	c.883G>A	c.(883-885)Ggc>Agc	p.G295S	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Missense_Mutation_p.G36S|IDO2_uc003xnp.1_Missense_Mutation_p.G36S	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	282					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	p.Y294C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TGAGTTCTTAGGCATTCGTCA	0.458000														42			8		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042515	74042515	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74042515C>T	uc002sjr.1	+	2	1286	c.1165C>T	c.(1165-1167)Cct>Tct	p.P389S		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	389										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCCACTACTTCCTGTAGAAAT	0.423000														49			7		0	0	1	0	0
FAM115A	9747	broad.mit.edu	37	7	143573340	143573340	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143573340G>A	uc003wdo.2	-	1	495	c.362C>T	c.(361-363)tCc>tTc	p.S121F	FAM115A_uc011ktu.2_Intron|FAM115A_uc003wdp.2_Missense_Mutation_p.S121F	NM_014719	NP_001193870	Q9Y4C2	F115A_HUMAN	Homo sapiens family with sequence similarity 115, member A (FAM115A), transcript variant 1, mRNA.	121										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					AACCCCCAGGGAGTCTTTCAC	0.522000														135			52		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61868589	61868589	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61868589C>T	uc001jky.3	-	27	3511	c.3173_splice	c.e27+1	p.G1058_splice	ANK3_uc001jkw.3_Splice_Site_p.G192_splice|ANK3_uc009xpa.3_Splice_Site_p.G192_splice|ANK3_uc001jkx.3_Splice_Site_p.G236_splice|ANK3_uc010qih.2_Splice_Site_p.G1059_splice|ANK3_uc001jkz.4_Splice_Site_p.G1052_splice|ANK3_uc001jla.1_Splice_Site_p.G124_splice|ANK3_uc001jlb.1_Splice_Site_p.G576_splice	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1058	ZU5.				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						ACAACTTACCCTAAAAATTGT	0.438000														51			8		0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279704	217279704	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:217279704C>T	uc002vgc.4	+	2	607	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	SMARCAL1_uc002vgd.4_Nonsense_Mutation_p.Q93*|SMARCAL1_uc010fvg.3_Nonsense_Mutation_p.Q93*	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	93					DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CCACAGTTTTCAGGCAAAGGG	0.483000									Schimke Immuno-Osseous Dysplasia					46			20		0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111427208	111427208	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:111427208G>A	uc003dya.3	+	1	1169	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	PLCXD2_uc003dxz.3_Missense_Mutation_p.R200Q	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	200	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.R200Q(2)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TTGACGCTGCGAACTCTGTGG	0.512000														52			19		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45821601	45821601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45821601C>T	uc010gpt.1	+	15	2459	c.2359C>T	c.(2359-2361)Cgc>Tgc	p.R787C	TRPM2_uc002zet.1_Missense_Mutation_p.R787C|TRPM2_uc002zeu.1_Missense_Mutation_p.R787C|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.R787C|TRPM2_uc002zex.1_Missense_Mutation_p.R573C|TRPM2_uc002zey.1_Missense_Mutation_p.R300C	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	787						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.R787R(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCCGCGGCCCGCGCCCGTGC	0.652000														95			39		0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113587942	113587942	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113587942G>A	uc002tii.1	-	6	893	c.806C>T	c.(805-807)tCc>tTc	p.S269F	IL1B_uc002tih.1_Missense_Mutation_p.S238F	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	269					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	CTCTCTTTAGGAAGACACAAA	0.502000														100			24		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965048	88965048	+	Missense_Mutation	SNP	G	A	A	rs144693443	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:88965048G>A	uc011khi.2	+	3	3290	c.2752G>A	c.(2752-2754)Gga>Aga	p.G918R		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	918						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CACTGCAGAAGGAGAGAGGAC	0.423000										HNSCC(36;0.09)				120			25		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553749	19553749	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:19553749G>A	uc001vuz.1	+	0	385	c.333G>A	c.(331-333)ggG>ggA	p.G111G	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	111								p.R110W(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCTGCAGGGGGAGCGGCAAGA	0.597000														316			100		0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51751483	51751483	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:51751483C>T	uc001jix.4	+	2	738	c.340C>T	c.(340-342)Cag>Tag	p.Q114*		NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	114					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CACAATATTCCAGAGGAACTC	0.348000														176			17		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667107	157667107	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157667107G>A	uc001fqz.4	-	5	959	c.667C>T	c.(667-669)Cag>Tag	p.Q223*	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Nonsense_Mutation_p.Q223*|FCRL3_uc001frc.1_Nonsense_Mutation_p.Q223*	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	223	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AATTGCAGCTGGACATCTGGC	0.587000														70			37		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110864539	110864539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:110864539C>T	uc003hzy.4	+	2	909	c.457C>T	c.(457-459)Ctt>Ttt	p.L153F	EGF_uc011cfu.2_Missense_Mutation_p.L153F|EGF_uc011cfv.2_Missense_Mutation_p.L153F	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	153					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTCCCACATTCTTTTAAGTGC	0.308000														84			20		0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36051420	36051420	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36051420G>A	uc002oal.1	-	5	661	c.632C>T	c.(631-633)cCc>cTc	p.P211L	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	211					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GATGTCGGCGGGCACTCTGTC	0.627000														61			9		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468287	10468287	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10468287C>T	uc003wtc.3	-	3	3550	c.3321G>A	c.(3319-3321)atG>atA	p.M1107I		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1107					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)		GCCTCCTGGCCATGGGCCTAG	0.627000														104			25		0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60562911	60562911	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:60562911G>A	uc001jki.1	+	14	2090	c.2090G>A	c.(2089-2091)gGg>gAg	p.G697E	BICC1_uc001jkj.1_Missense_Mutation_p.G338E	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	697					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AAGGCTCCAGGGAGTGAGCGC	0.532000														63			11		0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104575594	104575594	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:104575594G>A	uc001yop.2	+	12	1547	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	ASPG_uc001yoq.2_Missense_Mutation_p.E488K|ASPG_uc001yor.2_Missense_Mutation_p.E488K	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	488					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GTTGCTGCGGGAAGCCGGGGC	0.652000														28			9		0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78959016	78959016	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:78959016G>A	uc001din.3	+	1	854	c.588G>A	c.(586-588)tgG>tgA	p.W196*	PTGFR_uc001dim.3_Nonsense_Mutation_p.W196*	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	196					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.D195E(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	TCAAAGACTGGGAAGATAGAT	0.408000														114			11		0	0	1	0	0
FAM110C	642273	broad.mit.edu	37	2	45964	45964	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:45964C>T	uc010yim.2	-	0	625	c.422G>A	c.(421-423)gGa>gAa	p.G141E		NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN	Homo sapiens family with sequence similarity 110, member C (FAM110C), mRNA.	141						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		GCCCTCGTCTCCCGTCCGGGG	0.736000														17			4		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117662894	117662894	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117662894G>A	uc001twn.2	-	25	4566	c.3855C>T	c.(3853-3855)ctC>ctT	p.L1285L	NOS1_uc021ren.1_Silent_p.L915L|NOS1_uc021reo.1_Silent_p.L915L|NOS1_uc001twm.2_Silent_p.L1251L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1251					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTGGTCCAACGAGGATGCAGG	0.572000														121			49		0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69669255	69669255	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:69669255C>T	uc004dyi.2	+	2	802	c.455C>T	c.(454-456)cCc>cTc	p.P152L	U4_uc022byp.1_5'Flank|DLG3_uc004dyj.2_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	152	PDZ 1.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					ATCGACAATCCCCATGTCCCT	0.567000														20			29		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36875124	36875124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36875124C>T	uc003cgj.3	-	20	6066	c.5818G>A	c.(5818-5820)Gac>Aac	p.D1940N		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1940					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAGTCCTTGTCGGCAGTGAGC	0.587000														27			10		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383180	22383180	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22383180C>T	uc001yuc.1	+	6	1689	c.708C>T	c.(706-708)gcC>gcT	p.A236A	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.A236A	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGAACAAGGCCATGTCCACGT	0.502000														93			33		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20329723	20329723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20329723C>T	uc002dgv.3	-	7	1129	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	GP2_uc002dgw.3_Missense_Mutation_p.G346E|GP2_uc002dgx.3_Missense_Mutation_p.G202E|GP2_uc002dgy.3_Missense_Mutation_p.G199E	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	349	ZP.					anchored to membrane|extracellular region|plasma membrane		p.G346E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AATGAACTCTCCATTCCCGTC	0.473000														159			14		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657090	143657090	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143657090G>A	uc003wds.1	+	0	71	c.27G>A	c.(25-27)gtG>gtA	p.V9V		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W8L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGACTTGGGTGAGTGAATTTA	0.428000														132			45		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45711070	45711070	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45711070C>T	uc002zei.2	+	7	1099	c.972C>T	c.(970-972)tcC>tcT	p.S324S	AIRE_uc010gpq.2_Non-coding_Transcript|AIRE_uc002zej.2_Silent_p.S127S|AIRE_uc010gpr.2_Silent_p.S127S	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	324					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CCTGCCTGTCCCCTCCGCTCC	0.682000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					30			10		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53216853	53216853	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53216853G>A	uc001sbb.3	-	6	1347	c.1314C>T	c.(1312-1314)gcC>gcT	p.A438A	KRT79_uc001sba.3_Silent_p.A209A	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	438	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCACGTCCAGGGCCAGCTTGA	0.632000														71			28		0	0	1	0	0
TAL2	6887	broad.mit.edu	37	9	108425072	108425072	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:108425072C>T	uc004bct.3	+	0	335	c.295C>T	c.(295-297)Cct>Tct	p.P99S		NM_005421	NP_005412	Q16559	TAL2_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 2 (TAL2), mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CTACCAGGTTCCTTCACCTGG	0.572000			T	TRB@	T-ALL									21			8		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114136107	114136107	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:114136107G>A	uc001kzu.3	+	0	152	c.40G>A	c.(40-42)Gag>Aag	p.E14K	ACSL5_uc001kzs.3_Intron|ACSL5_uc001kzt.3_Intron	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	0					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GAGGAACCACGAGCGAGGGAA	0.632000														101			42		0	0	1	0	0
ABCB9	23457	broad.mit.edu	37	12	123444423	123444423	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:123444423G>A	uc001udm.4	-	1	670	c.360C>T	c.(358-360)ttC>ttT	p.F120F	ABCB9_uc021rfo.1_Silent_p.F120F|ABCB9_uc021rfp.1_Silent_p.F120F|ABCB9_uc001udo.4_Silent_p.F120F|ABCB9_uc010taj.2_Silent_p.F120F|ABCB9_uc001udq.3_5'UTR|ABCB9_uc021rfq.1_Silent_p.F120F|ABCB9_uc001udr.3_Silent_p.F120F	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	120					positive regulation of T cell mediated cytotoxicity|protein transport	TAP complex|lysosomal membrane|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		ACGTCCACACGAACAGGGCCC	0.657000														21			10		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583817	82583817	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82583817C>T	uc003uhx.2	-	4	6741	c.6452G>A	c.(6451-6453)aGa>aAa	p.R2151K	PCLO_uc003uhv.2_Missense_Mutation_p.R2151K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2082					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						TTGAATTTCTCTTGTATAATC	0.413000														74			21		0	0	1	0	0
KLRC4	8302	broad.mit.edu	37	12	10560951	10560951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10560951G>A	uc001qye.3	-	2	499	c.317C>T	c.(316-318)tCc>tTc	p.S106F	KLRK1_uc001qyc.3_5'Flank|KLRK1_uc009zhk.3_5'UTR|KLRK1_uc001qyd.3_5'UTR	NM_013431	NP_038459	O43908	NKG2F_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 4 (KLRC4), mRNA.	106					cellular defense response	integral to membrane	binding|receptor activity	p.S106P(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						TCTATTCAGGGAAAAATTGTT	0.279000														29			12		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152423746	152423746	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152423746C>T	uc021vrb.1	-	84	13018	c.12989G>A	c.(12988-12990)tGg>tAg	p.W4330*	NEB_uc002txr.3_Nonsense_Mutation_p.W796*|NEB_uc002txu.3_Nonsense_Mutation_p.W6031*|NEB_uc021vrc.1_Nonsense_Mutation_p.W6031*|NEB_uc010fnx.3_Nonsense_Mutation_p.W4318*|NEB_uc021vrd.1_Nonsense_Mutation_p.W4330*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4330					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGACACATCCATTGGTGCAA	0.428000														88			36		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37514875	37514875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:37514875C>T	uc003chd.3	+	2	397	c.344C>T	c.(343-345)aCc>aTc	p.T115I	ITGA9_uc003chc.3_Missense_Mutation_p.T115I	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	115					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TGCGGAAAGACCTGCCGGGAA	0.602000														48			11		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1051955	1051955	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:1051955C>T	uc002lqw.4	+	21	3208	c.2977C>T	c.(2977-2979)Ctc>Ttc	p.L993F	ABCA7_uc010dsb.1_Missense_Mutation_p.L855F	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	993	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CACGCTGATCCTCTCCACCCA	0.672000														78			11		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8421909	8421909	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:8421909G>A	uc001ape.3	-	17	2740	c.1930C>T	c.(1930-1932)Ctt>Ttt	p.L644F	RERE_uc001apf.3_Missense_Mutation_p.L644F|RERE_uc010nzx.1_Missense_Mutation_p.L376F|RERE_uc001apd.3_Missense_Mutation_p.L90F	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	644					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTACTCTTAAGAGGGGAAGAG	0.552000														51			25		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41419023	41419023	+	Silent	SNP	G	A	A	rs145714777		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:41419023G>A	uc001rmm.1	+	20	2708	c.2595G>A	c.(2593-2595)tcG>tcA	p.S865S	CNTN1_uc001rmn.1_Silent_p.S854S	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	865	Fibronectin type-III 3.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAGAGTACTCGGCCAGGCTCG	0.483000														205			64		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186059893	186059893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:186059893C>T	uc001grq.1	+	63	9960	c.9731C>T	c.(9730-9732)cCt>cTt	p.P3244L	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3244					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCAAAGTTCCTCCAAGTGTT	0.358000														72			22		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79579213	79579213	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:79579213G>A	uc001jzk.3	-	16	3607	c.3537C>T	c.(3535-3537)ccC>ccT	p.P1179P	DLG5_uc001jzi.3_5'UTR|DLG5_uc001jzj.3_Silent_p.P594P|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Silent_p.P783P	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1179					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)			TCAAACTCCGGGGAACAGTGC	0.612000														38			5		0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31286729	31286729	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31286729G>A	uc003aiy.1	+	7	1742	c.1638G>A	c.(1636-1638)gaG>gaA	p.E546E	OSBP2_uc011ala.1_Silent_p.E380E|OSBP2_uc010gwc.1_Silent_p.E373E|OSBP2_uc011alb.1_Silent_p.E497E|OSBP2_uc003aiz.1_Silent_p.E545E|OSBP2_uc003aja.1_Silent_p.E179E|OSBP2_uc011alc.2_Silent_p.E288E|OSBP2_uc011ald.1_Silent_p.E90E|OSBP2_uc010gwd.1_Silent_p.E91E	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	546					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						ACTTCAATGAGCCCCTGTCCA	0.612000											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			19		0	0	1	0	0
SYTL5	94122	broad.mit.edu	37	X	37935888	37935888	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:37935888G>A	uc004ddx.3	+	4	979	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	SYTL5_uc004ddu.3_Missense_Mutation_p.R208Q|SYTL5_uc004ddv.3_Missense_Mutation_p.R208Q	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	208					intracellular protein transport	membrane	Rab GTPase binding|metal ion binding	p.R208R(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GACACTGGGCGGAGCTATAGC	0.388000														30			38		0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59131945	59131945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59131945G>A	uc010rks.2	+	0	14	c.14G>A	c.(13-15)gGa>gAa	p.G5E		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ACTGGGGGAGGAAATATTACA	0.398000														50			18		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35616947	35616947	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:35616947C>T	uc003xjr.2	+	13	2601	c.2273C>T	c.(2272-2274)cCc>cTc	p.P758L	UNC5D_uc003xjs.2_Missense_Mutation_p.P753L|UNC5D_uc003xju.2_Missense_Mutation_p.P334L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	758					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTTGATATTCCCCCATTCCTC	0.448000														155			39		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349739	100349739	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100349739T>A	uc003uwj.3	+	13	2176	c.2011T>A	c.(2011-2013)Tcc>Acc	p.S671T	ZAN_uc003uwk.3_Missense_Mutation_p.S671T|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	671	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GACCACCACCTCCATGGAAGA	0.522000														68			25		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16895655	16895655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16895655G>A	uc009vos.1	-	22	3415	c.2527C>T	c.(2527-2529)Cct>Tct	p.P843S	NBPF1_uc009vot.1_Missense_Mutation_p.P301S|NBPF1_uc001ayz.1_Missense_Mutation_p.P301S|NBPF1_uc010oce.1_Missense_Mutation_p.P572S	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	843	NBPF 4.					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)		AACATTTCAGGAGGAATTGAG	0.512000														388			25		0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17197380	17197380	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:17197380G>A	uc011aby.1	+	12	1521	c.1304_splice	c.e12+1	p.R435_splice	USP25_uc002yjz.1_Splice_Site_p.R435_splice|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Splice_Site_p.R435_splice	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	435					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AGGCTAGAAAGGTATTTTAAC	0.294000														51			7		0	0	1	0	0
NAP1L5	266812	broad.mit.edu	37	4	89618461	89618461	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:89618461C>T	uc003hrx.3	-	0	563	c.445G>A	c.(445-447)Gag>Aag	p.E149K	HERC3_uc011cdn.1_Intron|HERC3_uc003hrw.1_Intron|HERC3_uc011cdo.1_Intron	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN	Homo sapiens nucleosome assembly protein 1-like 5 (NAP1L5), mRNA.	149	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		tccccctcctcctcgtcatcc	0.637000														77			34		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183179	13183179	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:13183179C>G	uc010obg.2	-	1	937	c.694G>C	c.(694-696)Gat>Cat	p.D232H		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	232						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TGAGTCTCATCTTTCTTCATG	0.463000														168			27		0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40702463	40702463	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:40702463C>T	uc001cfc.4	+	7	2120	c.2089C>T	c.(2089-2091)Caa>Taa	p.Q697*	RLF_uc001cfd.4_Nonsense_Mutation_p.Q388*	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	697					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGCTGAACACCAAAATAATGA	0.388000														95			32		0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67220115	67220115	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67220115G>A	uc001olm.3	-	0	86	c.81C>T	c.(79-81)ccC>ccT	p.P27P	CABP4_uc009yrw.1_Non-coding_Transcript|CABP4_uc001oln.3_5'UTR|CABP4_uc001olo.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	27						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P27P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGCCACCTTGGGGGTAGGAGT	0.652000														36			4		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40572226	40572226	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:40572226G>A	uc002yxk.2	-	38	4967	c.4672C>T	c.(4672-4674)Cgt>Tgt	p.R1558C	BRWD1_uc010goc.1_Missense_Mutation_p.R201C|BRWD1_uc021wjf.1_Missense_Mutation_p.R1558C	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GAGGATTCACGAGCTCTGGAA	0.443000														88			23		0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225750837	225750837	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:225750837G>A	uc010fwz.1	-	5	794	c.555C>T	c.(553-555)tcC>tcT	p.S185S	DOCK10_uc002vob.2_Silent_p.S179S|DOCK10_uc002vod.1_Silent_p.S185S	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	185	PH.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGAGCCAGCCGGACTTGAAAA	0.498000														119			12		0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66504220	66504220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:66504220C>T	uc002lkk.2	+	3	443	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	CCDC102B_uc002lki.2_Missense_Mutation_p.R74C|CCDC102B_uc002lkj.1_Missense_Mutation_p.R74C	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	74										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGAAGAACTTCGCCTGCGGGA	0.483000														173			33		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109801498	109801498	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:109801498C>T	uc001dxa.4	+	1	3816	c.3755C>T	c.(3754-3756)tCc>tTc	p.S1252F		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1252	EGF-like 1; calcium-binding.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTCGACTCCTCCGCGCCCTTC	0.687000														21			4		0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62652709	62652709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:62652709G>A	uc001jli.3	-	5	779	c.341C>T	c.(340-342)tCc>tTc	p.S114F	RHOBTB1_uc009xpe.2_Intron|RHOBTB1_uc001jlh.3_Missense_Mutation_p.S114F|RHOBTB1_uc001jlj.3_Missense_Mutation_p.S114F|RHOBTB1_uc001jlk.3_Missense_Mutation_p.S114F	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	114	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATGATTTAGGGAATTGGGATT	0.408000														110			30		0	0	1	0	0
ZDHHC22	283576	broad.mit.edu	37	14	77600103	77600103	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:77600103C>T	uc010asp.3	-	2	918	c.715G>A	c.(715-717)Gga>Aga	p.G239R		NM_174976	NP_777636	Q8N966	ZDH22_HUMAN	Homo sapiens zinc finger, DHHC-type containing 22 (ZDHHC22), mRNA.	239						integral to membrane	acyltransferase activity|zinc ion binding			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		CACCTCTTTCCGAAGACCTCT	0.602000														34			18		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23827677	23827677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:23827677C>T	uc003sws.4	+	20	2633	c.2566C>T	c.(2566-2568)Cat>Tat	p.H856Y	STK31_uc003swt.4_Missense_Mutation_p.H833Y|STK31_uc011jze.2_Missense_Mutation_p.H856Y|STK31_uc010kuq.3_Missense_Mutation_p.H833Y|STK31_uc003swv.1_Missense_Mutation_p.H22Y	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	856	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGATCACTTCATCAGAACAA	0.353000														82			47		0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8531249	8531250	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8531249_8531250CC>TT	uc010dwe.3	+	6	841_842	c.761_762CC>TT	c.(760-762)tcc>tTT	p.S254F	HNRNPM_uc010dwc.1_Missense_Mutation_p.S254F|HNRNPM_uc010xke.1_Missense_Mutation_p.S215F|HNRNPM_uc010dwd.3_Missense_Mutation_p.S215F|HNRNPM_uc002mka.3_Missense_Mutation_p.S134F	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	254	RRM 2.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TTTGAACAGTCCATTGAAGCTG	0.396000														137			51		0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96971650	96971650	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96971650C>T	uc001kke.3	+	5	896	c.771C>T	c.(769-771)ctC>ctT	p.L257L	C10orf129_uc009xuu.1_Silent_p.L167L	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	257					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GGATGGATCTCCAGCCAACAG	0.473000														37			18		0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50667106	50667106	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:50667106C>T	uc002egg.2	+	9	1051	c.827C>T	c.(826-828)tCc>tTc	p.S276F		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	276					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TTCCTAGGCTCCCCTTCCGTG	0.582000														55			25		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299400	58299400	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:58299400G>A	uc001vhq.1	+	3	4344	c.3452G>A	c.(3451-3453)gGa>gAa	p.G1151E	PCDH17_uc010aec.1_Missense_Mutation_p.G1150E|PCDH17_uc001vhr.1_Missense_Mutation_p.G240E	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1151					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GACTGCCGGGGAAACGACCCT	0.448000														157			14		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149453010	149453010	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149453010C>T	uc003lrl.3	-	5	1131	c.936G>A	c.(934-936)gaG>gaA	p.E312E	CSF1R_uc011dcd.2_Silent_p.E164E|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.E312E|CSF1R_uc011dce.1_Intron	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	312	Ig-like C2-type 4.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCACGGTCACCTCCTGGATGA	0.532000														116			44		0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	517373	517373	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:517373C>T	uc003gak.4	+	8	1876	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	PIGG_uc003gaj.4_Silent_p.F572F|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Silent_p.F447F|PIGG_uc003gal.4_Silent_p.F491F	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	580					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CCTGGTACTTCCTTGTGAACA	0.567000														119			54		0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115544823	115544823	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:115544823G>A	uc003ibs.2	+	1	1309	c.787G>A	c.(787-789)Gga>Aga	p.G263R	UGT8_uc003ibt.2_Missense_Mutation_p.G263R|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	263					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TTATGTAGGAGGAATCCTAAC	0.423000														72			33		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31318615	31318615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:31318615C>T	uc010dmg.1	+	10	1302	c.1247C>T	c.(1246-1248)cCt>cTt	p.P416L	ASXL3_uc002kxq.2_Missense_Mutation_p.P123L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTCCAGAGCCTGGTTTCTGT	0.453000														38			17		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19654261	19654261	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:19654261C>T	uc002wrl.3	+	8	927	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	244						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTCTTTAGTCCTTGTGCTGAT	0.353000														59			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9014636	9014636	+	Missense_Mutation	SNP	G	A	A	rs34857031		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9014636G>A	uc002mkp.3	-	30	38543	c.38339C>T	c.(38338-38340)cCt>cTt	p.P12780L	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12782	SEA 5.			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						GTCCACTCCAGGGCTTTTGGG	0.562000														92			27		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2321209	2321209	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:2321209C>T	uc002wfx.4	+	12	2161	c.2064C>T	c.(2062-2064)tcC>tcT	p.S688S		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	688					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CCATGTTGTCCATCGATGTAG	0.587000														75			24		0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33879667	33879667	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33879667C>T	uc021wck.1	-	0	559	c.441G>A	c.(439-441)gtG>gtA	p.V147V	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	147										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGAAGTGGACCACAGCCTGGG	0.612000														99			43		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196659215	196659215	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196659215C>T	uc002utj.4	-	56	10664	c.10563G>A	c.(10561-10563)acG>acA	p.T3521T	DNAH7_uc002uti.4_Silent_p.T4T	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3521	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGGTAACTCGTTAGCCACA	0.383000														86			35		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24366209	24366209	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:24366209C>T	uc002dmf.3	+	2	1553	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	117					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.F117F(2)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TGCTGTTCTTCGGCGGGCTCT	0.617000														42			17		0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54577320	54577320	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:54577320G>A	uc003jpx.3	-	11	2109	c.1989C>T	c.(1987-1989)atC>atT	p.I663I	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	663	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ATTCCATCCGGATCTGATATC	0.393000														98			23		0	0	1	0	0
HOOK1	51361	broad.mit.edu	37	1	60330893	60330893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:60330893C>T	uc009wad.3	+	18	1822	c.1720C>T	c.(1720-1722)Ctt>Ttt	p.L574F	HOOK1_uc001czo.3_Missense_Mutation_p.L574F|HOOK1_uc001czp.3_Intron|HOOK1_uc010oor.2_Missense_Mutation_p.L532F	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	574					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					CATTGAAGATCTTCAGCCAGA	0.373000														60			19		0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241569894	241569894	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241569894C>T	uc010fzi.2	+	5	1490	c.618C>T	c.(616-618)ttC>ttT	p.F206F	GPR35_uc010fzh.2_Silent_p.F206F|GPR35_uc021vze.1_Silent_p.F175F|GPR35_uc002vzs.2_Silent_p.F175F	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	175						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CCATGGCGTTCCCGCTGCTGG	0.657000														72			16		0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116943869	116943869	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:116943869C>T	uc001ege.3	+	19	3175	c.2836C>T	c.(2836-2838)Cag>Tag	p.Q946*	ATP1A1_uc010owv.1_Nonsense_Mutation_p.Q915*|ATP1A1_uc010oww.2_Nonsense_Mutation_p.Q946*|ATP1A1_uc010owx.2_Nonsense_Mutation_p.Q915*|ATP1A1OS_uc009whb.2_Intron|ATP1A1OS_uc001egg.3_Intron	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	946					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TTCGGTCTTCCAGCAGGGGAT	0.488000														59			8		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50056163	50056163	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:50056163C>T	uc003jon.4	+	5	494	c.312C>T	c.(310-312)tcC>tcT	p.S104S	PARP8_uc011cpz.2_Intron|PARP8_uc003joo.3_Silent_p.S104S|PARP8_uc003jop.3_Silent_p.S104S	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	104						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GTTGCTTATCCATAAAATCCA	0.234000														44			8		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642599	57642599	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57642599C>T	uc002qny.3	+	3	2912	c.2556C>T	c.(2554-2556)gcC>gcT	p.A852A	USP29_uc021vci.1_Silent_p.A852A	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	852					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			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)		AGAAGCAGGCCTGGTTCACAT	0.468000														52			18		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74565190	74565190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74565190G>A	uc002axo.3	+	6	1111	c.717G>A	c.(715-717)atG>atA	p.M239I	CCDC33_uc002axp.3_Missense_Mutation_p.M61I	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	442	C2.						protein binding	p.M238I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGTCCATGATGAACTTTGACG	0.602000														103			24		0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	133058644	133058644	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:133058644G>A	uc001lkp.3	-	3	820	c.734C>T	c.(733-735)gCc>gTc	p.A245V	TCERG1L_uc009yax.1_Non-coding_Transcript	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	245	Poly-Ala.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CATggcagcggcggcggcggt	0.667000														11			6		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27458130	27458130	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27458130C>T	uc002rji.3	+	23	3966	c.3804C>T	c.(3802-3804)ttC>ttT	p.F1268F	CAD_uc010eyw.3_Silent_p.F1205F	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1268	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AGTTCTCCTTCTCCCGCTTGG	0.617000														76			9		0	0	1	0	0
GTF2H3	2967	broad.mit.edu	37	12	124135583	124135583	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124135583C>T	uc001ufo.1	+	4	433	c.407C>T	c.(406-408)tCc>tTc	p.S136F	GTF2H3_uc010tau.1_Missense_Mutation_p.S95F	NM_001516	NP_001507	Q13889	TF2H3_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 3, 34kDa (GTF2H3), mRNA.	136					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		CTGGCAGGATCCCTGGCCAAA	0.368000								Nucleotide excision repair (NER)						44			23		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52926959	52926959	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:52926959G>A	uc003gzl.3	+	2	483	c.205G>A	c.(205-207)Gat>Aat	p.D69N	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.D69N|SPATA18_uc003gzk.1_Missense_Mutation_p.D69N	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	69					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGGACGTAATGATGGTGTGGA	0.458000														74			9		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935757	94935757	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94935757C>T	uc001ydf.3	-	1	636	c.475G>A	c.(475-477)Gag>Aag	p.E159K	SERPINA9_uc001yde.3_Intron|SERPINA9_uc010avc.3_Missense_Mutation_p.E10K|SERPINA9_uc001ydg.3_Missense_Mutation_p.E123K|SERPINA9_uc001ydh.1_Missense_Mutation_p.E159K|SERPINA9_uc001ydi.1_Missense_Mutation_p.E123K	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.	141					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)		AGCTGCAGCTCCTTCTTGACG	0.527000														139			15		0	0	1	0	0
DEGS2	123099	broad.mit.edu	37	14	100615443	100615443	+	Silent	SNP	G	A	A	rs145891510		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:100615443G>A	uc001ygx.2	-	1	775	c.687C>T	c.(685-687)ttC>ttT	p.F229F		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA.	229					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	p.F229F(4)		breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCTCGGCCACGAAGTGGCCCG	0.622000														90			37		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53683068	53683068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53683068C>T	uc001sck.2	+	20	4994	c.4903C>T	c.(4903-4905)Cac>Tac	p.H1635Y	ESPL1_uc001scj.2_Missense_Mutation_p.H1310Y	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1635					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCTGCTCACCCACCTCCACAG	0.602000														152			10		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89156913	89156913	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:89156913C>T	uc003dqy.3	+	0	240	c.15C>T	c.(13-15)ctC>ctT	p.L5L	EPHA3_uc003dqx.1_Silent_p.L5L|EPHA3_uc021xbf.1_Silent_p.L5L	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	5						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATTGTCAGCTCTCCATCCTCC	0.562000										TSP Lung(6;0.00050)				130			30		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17522690	17522690	+	Missense_Mutation	SNP	G	A	A	rs140313023		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17522690G>A	uc001mnf.3	-	17	1497	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	USH1C_uc001mne.3_Missense_Mutation_p.S763F|USH1C_uc009yhb.3_Missense_Mutation_p.S444F|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.S427F	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	463	PDZ 3.				G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CAGGTCTAAGGATCCCTCCTG	0.592000														15			8		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46267841	46267842	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:46267841_46267842CC>TT	uc002xtk.3	+	13	2863_2864	c.2602_2603CC>TT	c.(2602-2604)cct>TTt	p.P868F	NCOA3_uc002xtl.3_Missense_Mutation_p.P868F|NCOA3_uc002xtn.3_Missense_Mutation_p.P868F|NCOA3_uc010ght.2_Missense_Mutation_p.P878F|NCOA3_uc002xtm.3_Missense_Mutation_p.P868F|NCOA3_uc010zyc.2_Missense_Mutation_p.P663F	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	868					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGCTCAAGTCCTCCAGTAAAA	0.436000														84			35		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191233	152191233	+	Missense_Mutation	SNP	C	T	T	rs138860104	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152191233C>T	uc001ezt.1	-	2	2948	c.2872G>A	c.(2872-2874)Gaa>Aaa	p.E958K		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	958					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTGTTGTTCGTAGCTGGAG	0.552000														331			135		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10083692	10083692	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10083692C>T	uc002mmq.1	-	50	3763	c.3677G>A	c.(3676-3678)gGa>gAa	p.G1226E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1226	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)			ACCAATGTCTCCCTTGGGCCC	0.577000														16			8		0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49579395	49579395	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49579395G>A	uc009zlf.3	-	3	1026	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L	TUBA1A_uc001rtp.3_Silent_p.L252L	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	Homo sapiens tubulin, alpha 1a (TUBA1A), mRNA.	252					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						AATTCTGTCAGGTCAACATTC	0.488000														72			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179499268	179499268	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179499268C>T	uc021vsy.1	-	178	34761	c.34536G>A	c.(34534-34536)gaG>gaA	p.E11512E	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.E5207E|TTN_uc021vta.1_Silent_p.E5140E|TTN_uc021vtb.1_Silent_p.E5015E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12439	Glu-rich.|Pro-rich.						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)			TAACATTTGCCTCTCGGGTGA	0.398000														131			50		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152737851	152737851	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:152737851C>T	uc021zhb.1	-	38	5944	c.5721G>A	c.(5719-5721)aaG>aaA	p.K1907K	SYNE1_uc003qot.4_Silent_p.K1914K|SYNE1_uc003qou.4_Silent_p.K1907K|SYNE1_uc010kjb.1_Silent_p.K1890K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1907					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATTGAGGTCCTTTTCTATCA	0.463000										HNSCC(10;0.0054)				30			25		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156957	22156957	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22156957G>A	uc021urr.1	-	3	1028	c.879C>T	c.(877-879)gcC>gcT	p.A293A	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)				CCTTACTAAAGGCTTTGCCAC	0.393000														64			24		0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66648120	66648120	+	Missense_Mutation	SNP	G	A	A	rs147474467		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:66648120G>A	uc003tvn.3	+	13	1855	c.1706G>A	c.(1705-1707)cGa>cAa	p.R569Q	TYW1_uc010lai.3_Non-coding_Transcript|TYW1_uc011kef.2_Missense_Mutation_p.R183Q	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	569					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TAGCAACAACGAACTGTCTAC	0.498000														18			8		0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48169959	48169959	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:48169959G>A	uc003gxz.3	-	6	598	c.507C>T	c.(505-507)ccC>ccT	p.P169P		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	169					intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P169S(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GAATTGGTGGGGGAGGCCTTC	0.383000														101			11		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20168604	20168604	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:20168604G>A	uc002wru.3	+	13	1530	c.1416G>A	c.(1414-1416)ttG>ttA	p.L472L	C20orf26_uc010zse.2_Silent_p.L452L	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	472										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)		CCACTCTCTTGGATACTCCTG	0.393000														91			17		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110730466	110730466	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:110730466C>T	uc003kpf.3	+	4	680	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L	CAMK4_uc010jbv.3_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	149	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TAAACAAATCCTGGAGGCAGT	0.398000														39			30		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994357	140994357	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140994357C>T	uc004fbt.3	+	3	1491	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.F48F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	389							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)					TGAGTCTTTTCCAGAGTTCCC	0.488000										HNSCC(15;0.026)				86			94		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594352	140594352	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140594352C>T	uc003lja.1	+	0	844	c.657C>T	c.(655-657)ggC>ggT	p.G219G		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	219	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGATGGTGGCTCTCCGCCCA	0.532000														142			36		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40362893	40362893	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40362893G>A	uc002omp.4	-	31	15185	c.15177C>T	c.(15175-15177)ccC>ccT	p.P5059P		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5059	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGTCGCGAAGGGGCCCTGGG	0.652000														118			49		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6711196	6711196	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6711196C>T	uc002mfm.3	-	11	1343	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	427					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.T426T(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCTCCTGCTTCTTCGTGCGCA	0.607000														51			12		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033491	95033491	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:95033491C>T	uc010avd.3	+	2	1219	c.945C>T	c.(943-945)ttC>ttT	p.F315F	SERPINA4_uc001ydk.3_Silent_p.F278F|SERPINA4_uc001ydl.3_Silent_p.F278F	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	278					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCGTGTTTTTCATTCTCCCTA	0.478000														39			26		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20683155	20683155	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:20683155C>T	uc010kuh.3	+	6	815	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	379					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	p.S193L(1)|p.S193*(1)		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						TCTACTTTTTCGATTGGCCTG	0.423000														112			28		0	0	1	0	0
POTED	317754	broad.mit.edu	37	21	14982958	14982958	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:14982958C>T	uc002yjb.1	+	0	461	c.409C>T	c.(409-411)Cga>Tga	p.R137*		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	137						plasma membrane		p.R137Q(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CCACATCCGTCGAGAAGATCT	0.587000														56			7		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34180243	34180243	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:34180243C>T	uc002nus.4	+	2	581	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	CHST8_uc002nut.4_Missense_Mutation_p.L26F|CHST8_uc002nuu.3_Missense_Mutation_p.L26F	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	26					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TGCAGGCCTCCTCCTCTTCAT	0.642000														119			24		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6678261	6678261	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6678261G>A	uc002mfm.3	-	39	4814	c.4752C>T	c.(4750-4752)ttC>ttT	p.F1584F		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1584	NTR.				G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGGGGCTGATGAACGTGCGCT	0.592000														34			21		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98363806	98363806	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98363806C>T	uc001kmq.3	-	15	2299	c.2171_splice	c.e15-1	p.S724_splice	PIK3AP1_uc001kmo.3_Splice_Site_p.S323_splice|PIK3AP1_uc001kmp.3_Splice_Site_p.S546_splice	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	724						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)		ACTTGTGCTACCTAAAGGGTA	0.453000														14			5		0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911994	158911994	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158911994C>T	uc001ftb.3	+	4	1057	c.807C>T	c.(805-807)atC>atT	p.I269I	PYHIN1_uc001ftc.3_Silent_p.I260I|PYHIN1_uc001ftd.3_Silent_p.I269I|PYHIN1_uc001fte.3_Silent_p.I260I	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	269	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGAGAATCATCATTATATCAA	0.378000														52			15		0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116205144	116205144	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:116205144C>T	uc021pyx.1	-	15	1853	c.1754G>A	c.(1753-1755)aGa>aAa	p.R585K	ABLIM1_uc021pyw.1_Missense_Mutation_p.R585K|ABLIM1_uc021pyy.1_Missense_Mutation_p.R553K|ABLIM1_uc021pyz.1_Missense_Mutation_p.R519K|ABLIM1_uc021pza.1_Missense_Mutation_p.R525K|ABLIM1_uc021pze.1_Missense_Mutation_p.R462K|ABLIM1_uc021pzf.1_Missense_Mutation_p.R549K|ABLIM1_uc021pyv.1_Missense_Mutation_p.R255K|ABLIM1_uc021pzb.1_Missense_Mutation_p.R180K|ABLIM1_uc021pzc.1_Missense_Mutation_p.R201K|ABLIM1_uc021pzd.1_Missense_Mutation_p.R398K|ABLIM1_uc021pyu.1_Missense_Mutation_p.R262K	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	585					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GCCACTAGATCTGCGTTTCAT	0.458000														135			61		0	0	1	0	0
FASTKD2	22868	broad.mit.edu	37	2	207636626	207636626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:207636626C>T	uc002vbu.3	+	4	1409	c.999C>T	c.(997-999)gcC>gcT	p.A333A	FASTKD2_uc002vbv.3_Silent_p.A333A|FASTKD2_uc002vbx.3_Silent_p.A333A|FASTKD2_uc002vbw.1_Silent_p.A333A	NM_001136193	NP_055744	Q9NYY8	FAKD2_HUMAN	Homo sapiens FAST kinase domains 2 (FASTKD2), transcript variant 2, mRNA.	333					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AGATGAAAGCCTTGAGGGAAT	0.323000														58			13		0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134232995	134232995	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:134232995G>A	uc003yub.3	+	2	627	c.521G>A	c.(520-522)aGc>aAc	p.S174N	WISP1_uc003yuc.3_Intron|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	174	VWFC.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CGGCGCGTGAGCATACCTGGC	0.677000														52			17		0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833575	43833575	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43833575C>T	uc002zbe.3	+	4	694	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L	UBASH3A_uc002zbf.3_Intron|UBASH3A_uc010gpe.3_Intron|UBASH3A_uc010gpc.3_Intron|UBASH3A_uc010gpd.3_Intron	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	204						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TGGCCCTAACCTGAGGCTGAG	0.527000														42			16		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57395136	57395136	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57395136G>A	uc001cyp.3	-	11	1784	c.1717C>T	c.(1717-1719)Cct>Tct	p.P573S	C8B_uc010oon.2_Missense_Mutation_p.P511S|C8B_uc010ooo.2_Missense_Mutation_p.P521S	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	573	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CCATTTTGAGGAGGTGGATTG	0.483000														57			24		0	0	1	0	0
IFNA7	3444	broad.mit.edu	37	9	21201647	21201647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21201647C>T	uc003zop.1	-	0	558	c.518G>A	c.(517-519)aGa>aAa	p.R173K	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	Homo sapiens interferon, alpha 7 (IFNA7), mRNA.	173					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAGAAGGATCTCATGATTTC	0.388000														244			153		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160710199	160710199	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:160710199C>T	uc002ubb.4	-	18	2679	c.2605G>A	c.(2605-2607)Gat>Aat	p.D869N	LY75-CD302_uc010fos.3_Missense_Mutation_p.D869N|LY75-CD302_uc002ubc.4_Missense_Mutation_p.D869N	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	869	C-type lectin 5.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TTCTGTCCATCACCAGATATC	0.363000														118			48		0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36982421	36982421	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:36982421G>A	uc010jwp.1	+	7	995	c.824_splice	c.e7-1	p.K275_splice	FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_Splice_Site|FGD2_uc003oni.1_Splice_Site_p.K81_splice	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	275	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GCCCCTTTCAGAAGCCCTGGA	0.597000														38			16		0	0	1	0	0
VAV2	7410	broad.mit.edu	37	9	136661588	136661589	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:136661588_136661589GG>AA	uc004ces.3	-	10	1040_1041	c.994_995CC>TT	c.(994-996)ccc>TTc	p.P332F	VAV2_uc004cer.3_Missense_Mutation_p.P327F	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	332	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|metal ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CCTCTGCATGGGGACCACCAGC	0.609000														27			7		0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96163655	96163655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:96163655G>A	uc003hto.3	-	6	1386	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S	UNC5C_uc010ilc.2_Missense_Mutation_p.P345S|UNC5C_uc003htq.3_Missense_Mutation_p.P345S	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	345	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CCATTCTTGGGGGCTGGCGCC	0.567000														25			12		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204946817	204946817	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204946817G>A	uc010prc.2	+	15	2070	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	NFASC_uc001hbj.3_Missense_Mutation_p.A614T|NFASC_uc010pra.2_Intron|NFASC_uc001hbi.3_Intron|NFASC_uc010prb.2_Missense_Mutation_p.A625T|NFASC_uc001hbk.1_Intron			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	614	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGCTGATCAGGCCACTCCAAC	0.537000														34			11		0	0	1	0	0
TNFSF4	7292	broad.mit.edu	37	1	173176258	173176258	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:173176258C>T	uc001giw.3	-	0	214	c.58G>A	c.(58-60)Gag>Aag	p.E20K	TNFSF4_uc001giv.3_5'Flank	NM_003326	NP_003317	P23510	TNFL4_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 4 (TNFSF4), mRNA.	20					T-helper 2 cell activation|acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of T-helper 1 cell differentiation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell activation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of alpha-beta T cell proliferation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						TTGTTCCTCTCGAATCTTGGC	0.512000														70			23		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142178189	142178189	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:142178189C>T	uc003yvy.3	+	12	1878	c.1600C>T	c.(1600-1602)Cat>Tat	p.H534Y	DENND3_uc010mep.3_Missense_Mutation_p.H495Y|DENND3_uc003yvz.1_Missense_Mutation_p.H218Y	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	534										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCAGGCATACCATGCCCACTT	0.532000														140			17		0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5069154	5069154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:5069154C>T	uc010mhm.3	+	9	1572	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	JAK2_uc003ziw.3_Missense_Mutation_p.R487C	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	487					JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GGAAACTGTTCGCTCAGACAA	0.338000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial					46			26		0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15452403	15452403	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:15452403C>T	uc003nbj.3	+	3	734	c.490C>T	c.(490-492)Cga>Tga	p.R164*	JARID2_uc011diu.1_Intron|JARID2_uc011div.2_5'UTR|JARID2_uc011diw.1_Nonsense_Mutation_p.R126*	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	164					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.R164*(2)|p.R164Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCTCTGCCTTCGAGGTAAGAC	0.468000														89			11		0	0	1	0	0
TCRBV20S1	0	broad.mit.edu	37	7	142032393	142032393	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142032393G>A	uc011krs.1	+	1	246	c.213G>A	c.(211-213)aaG>aaA	p.K71K	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron					Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds.																		TCCAAGGCAAGGATGCAGCAG	0.532000														26			8		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124608753	124608753	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124608753C>T	uc001lgs.3	-	2	574	c.-377_splice	c.e2+1		CUZD1_uc010qtz.2_Intron|FAM24B_uc001lgt.3_3'UTR|FAM24B_uc021qai.1_3'UTR	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.						cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TTGTGCCCACCTTTCCTAACT	0.393000														67			26		0	0	1	0	0
NR2E3	10002	broad.mit.edu	37	15	72105971	72105971	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72105971A>G	uc002ati.3	+	6	1179	c.989A>G	c.(988-990)aAg>aGg	p.K330R	NR2E3_uc002ath.1_Missense_Mutation_p.K330R	NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA.	330					phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						GTCCTCTTCAAGCCAGGTAAC	0.567000														67			11		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9118220	9118220	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:9118220G>A	uc001apo.3	-	1	415	c.123C>T	c.(121-123)tcC>tcT	p.S41S	SLC2A5_uc010nzz.2_Intron|SLC2A5_uc010oaa.2_Missense_Mutation_p.P10L|SLC2A5_uc010oac.2_Silent_p.S41S|SLC2A5_uc001app.4_Silent_p.S41S|SLC2A5_uc021ofv.1_Non-coding_Transcript	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	41					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGTGCTGGGGAGTTGACAG	0.597000														31			21		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64589979	64589979	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:64589979G>A	uc003dmg.3	-	23	3535	c.3503C>T	c.(3502-3504)cCc>cTc	p.P1168L	ADAMTS9_uc011bfo.2_Missense_Mutation_p.P1140L|ADAMTS9_uc003dmh.1_Missense_Mutation_p.P997L|ADAMTS9_uc011bfp.1_Missense_Mutation_p.P79L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1168					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGCAGCTGGGGGAGGATGACA	0.478000														68			33		0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032617	30032617	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:30032617C>T	uc021qfi.1	-	0	1609	c.1609G>A	c.(1609-1611)Ggc>Agc	p.G537S	KCNA4_uc001msk.3_Missense_Mutation_p.G537S	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	537						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACAATCTTGCCCCCTACAGTG	0.498000														66			9		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65909275	65909276	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:65909275_65909276CC>TT	uc002jgf.3	+	10	5336_5337	c.5275_5276CC>TT	c.(5275-5277)cct>TTt	p.P1759F	BPTF_uc002jge.3_Missense_Mutation_p.P1885F	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1885	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATATCCTTCTCCTAGACCGACC	0.371000														170			54		0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	92006331	92006331	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:92006331C>T	uc004aqo.1	-	11	1195	c.623_splice	c.e11-1	p.E208_splice	SEMA4D_uc011ltm.1_Splice_Site_p.E208_splice|SEMA4D_uc011ltn.1_Splice_Site|SEMA4D_uc011lto.1_Splice_Site|SEMA4D_uc004aqp.1_Splice_Site_p.E208_splice	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	208	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						AAACTAGGCTCTGCAGAGAGA	0.582000														57			13		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7618780	7618780	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7618780C>T	uc010xjq.2	+	20	2550	c.2310C>T	c.(2308-2310)ccC>ccT	p.P770P	PNPLA6_uc002mgq.2_Silent_p.P722P|PNPLA6_uc010xjp.2_Silent_p.P695P|PNPLA6_uc002mgr.2_Silent_p.P722P|PNPLA6_uc002mgs.3_Silent_p.P760P	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	761					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGGGTGTGCCCCCACACTCGG	0.582000														54			14		0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98084132	98084132	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98084132G>A	uc001kmf.3	+	5	1030	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	DNTT_uc001kmg.3_Missense_Mutation_p.R287Q	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	287	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AAATTTACACGAATGCAGAAA	0.453000														104			30		0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42678454	42678454	+	Missense_Mutation	SNP	G	A	A	rs35855730		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42678454G>A	uc001zpn.1	+	2	775	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Missense_Mutation_p.E70K|CAPN3_uc010udf.1_Missense_Mutation_p.E70K|CAPN3_uc010udg.1_Missense_Mutation_p.E70K|CAPN3_uc001zpo.1_Missense_Mutation_p.E157K|CAPN3_uc001zpp.1_Missense_Mutation_p.E157K	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	157	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AAGTTTCATCGAAAACTACGC	0.552000											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		120			50		0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185229332	185229332	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:185229332C>T	uc003fpm.3	-	8	1358	c.1248G>A	c.(1246-1248)agG>agA	p.R416R	LIPH_uc010hyh.3_Silent_p.R382R	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	416					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGGCAAGGGACCTTAACTTCA	0.468000														69			34		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94114841	94114841	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:94114841C>T	uc003kkx.2	-	18	2584	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K	MCTP1_uc003kkv.2_Missense_Mutation_p.E641K|MCTP1_uc003kkw.2_Missense_Mutation_p.E555K|MCTP1_uc003kku.2_Missense_Mutation_p.E378K	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	862					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCTTCTTCTTCCTCGTCCTCT	0.418000														105			24		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166167070	166167071	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166167070_166167071GC>TT	uc002udc.3	+	6	1225_1226	c.935_936GC>TT	c.(934-936)agc>aTT	p.S312I	SCN2A_uc002udd.3_Missense_Mutation_p.S312I|SCN2A_uc002ude.3_Missense_Mutation_p.S312I	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	312					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGGACAGTGAGCATATTTAACT	0.287000														47			17		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450836	55450836	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55450836C>T	uc002qih.4	-	3	1427	c.1351G>A	c.(1351-1353)Gga>Aga	p.G451R	NLRP7_uc010esk.3_Missense_Mutation_p.G451R|NLRP7_uc002qig.4_Missense_Mutation_p.G451R|NLRP7_uc002qii.4_Missense_Mutation_p.G451R|NLRP7_uc010esl.3_Missense_Mutation_p.G479R	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	451	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGATGTCTCCGTCCAGGAAC	0.622000														45			19		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5436224	5436224	+	Missense_Mutation	SNP	G	A	A	rs149973177		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:5436224G>A	uc002gci.3	-	10	3769	c.3214C>T	c.(3214-3216)Cct>Tct	p.P1072S	NLRP1_uc002gcg.1_Missense_Mutation_p.P1076S|NLRP1_uc002gch.4_Missense_Mutation_p.P1072S|NLRP1_uc002gck.3_Missense_Mutation_p.P1072S|NLRP1_uc002gcj.3_Missense_Mutation_p.P1042S|NLRP1_uc002gcl.3_Missense_Mutation_p.P1042S|NLRP1_uc010clh.3_Missense_Mutation_p.P1072S	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1072					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.P1072S(3)|p.P1076S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTCCCCAAAGGCTTCGTATGC	0.577000														49			7		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1260591	1260591	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1260591C>T	uc002cks.3	+	19	4226	c.3978C>T	c.(3976-3978)gtC>gtT	p.V1326V	CACNA1H_uc002ckt.3_Silent_p.V1326V|CACNA1H_uc002cku.3_Silent_p.V32V|CACNA1H_uc010brj.3_Silent_p.V32V|CACNA1H_uc002ckv.3_Silent_p.V32V	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1326					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)	AGGAGCGGGTCTTCCTCAGCG	0.667000														28			7		0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	161025734	161025734	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:161025734G>A	uc002ubh.2	-	6	1021	c.1006C>T	c.(1006-1008)Cat>Tat	p.H336Y	ITGB6_uc010fow.1_Non-coding_Transcript|ITGB6_uc010fou.2_Missense_Mutation_p.H336Y|ITGB6_uc010zcq.1_Missense_Mutation_p.H294Y|ITGB6_uc010fov.1_Missense_Mutation_p.H336Y	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	336	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCATATAAATGAACTTGTTCT	0.323000														83			32		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78516338	78516338	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:78516338G>A	uc001ozl.4	-	15	2642	c.2179_splice	c.e15+1	p.E727_splice		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	727	EGF-like 6.				signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGCATTTACCGATAGAACAGT	0.552000														16			3		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529187	57529187	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:57529187G>A	uc011kdi.1	+	3	1132	c.1020G>A	c.(1018-1020)aaG>aaA	p.K340K		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAACCCTTAAGAAACATAAGA	0.398000														39			15		0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90528592	90528592	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:90528592G>A	uc001xye.1	+	0	485	c.43G>A	c.(43-45)Gag>Aag	p.E15K		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	15						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CCACCTGAACGAGGACAACGC	0.756000														20			3		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169562877	169562877	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169562877G>A	uc001ggi.4	-	13	2438	c.2373C>T	c.(2371-2373)ctC>ctT	p.L791L	SELP_uc001ggh.3_Intron|SELP_uc009wvr.3_Silent_p.L790L	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	791					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.T790M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GCAAAGCCAGGAGCGTCCCAC	0.413000														58			9		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703277	4703277	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4703277C>T	uc001lzk.2	-	1	909	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	OR51E2_uc021qcr.1_Missense_Mutation_p.R222Q	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAGAACCGTTCGTATTATCAG	0.488000														59			29		0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64152334	64152334	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:64152334C>T	uc003ttd.3	+	5	801	c.15C>T	c.(13-15)ccC>ccT	p.P5P	ZNF107_uc003tte.3_Silent_p.P5P	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TAGCCAAACCCCCAGGTAGGT	0.398000														144			23		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38805726	38805726	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38805726C>T	uc021yzh.1	+	32	4483	c.4374C>T	c.(4372-4374)ttC>ttT	p.F1458F	DNAH8_uc003ooe.2_Silent_p.F1241F	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGCCAGTTTCGATGATCTGT	0.323000														50			20		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481952	140481952	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140481952C>T	uc003lio.3	+	0	1719	c.1719C>T	c.(1717-1719)acC>acT	p.T573T	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	573	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCTGCACCGAGCTGGTGC	0.701000														92			26		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32526597	32526597	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:32526597C>T	uc002yow.1	-	17	3611	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K	TIAM1_uc011adk.1_Missense_Mutation_p.E1047K|TIAM1_uc011adl.1_Missense_Mutation_p.E987K	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1047	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	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCCAGGAGCTCGCAGATCACC	0.582000														18			30		0	0	1	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45128160	45128160	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:45128160C>T	uc003bfd.3	+	5	721	c.444C>T	c.(442-444)gcC>gcT	p.A148A	PRR5-ARHGAP8_uc003bew.2_Silent_p.A139A|PRR5-ARHGAP8_uc003bex.2_Silent_p.A53A|PRR5-ARHGAP8_uc010gzt.1_Silent_p.A171A|PRR5-ARHGAP8_uc003bey.1_Silent_p.A139A|PRR5-ARHGAP8_uc003bez.1_Silent_p.A53A|PRR5-ARHGAP8_uc011aqi.2_Intron|PRR5-ARHGAP8_uc011aqj.2_Intron|PRR5-ARHGAP8_uc003bfb.2_Silent_p.A148A|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5-ARHGAP8_uc003bfh.1_Silent_p.A47A	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						GCCAGCTGGCCCTGCTGCACT	0.672000														43			13		0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85530629	85530629	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:85530629C>T	uc011ccv.2	+	2	791	c.293C>T	c.(292-294)tCg>tTg	p.S98L		NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	98					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ACTATGATCTCGTTGTTTTTC	0.348000														103			49		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042300	74042300	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74042300G>A	uc002sjr.1	+	2	1071	c.950G>A	c.(949-951)aGc>aAc	p.S317N		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	317										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCCTTCAGTAGCAGAAATACC	0.468000														53			17		0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173873191	173873191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:173873191C>T	uc001gjt.3	-	6	1350	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	411					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.G411V(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GCTTCACTGCCTTCTTCATTT	0.468000														70			19		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95085657	95085657	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:95085657G>A	uc001ydp.3	+	2	928	c.769G>A	c.(769-771)Gag>Aag	p.E257K	SERPINA3_uc001ydo.4_Missense_Mutation_p.E282K|SERPINA3_uc001ydr.3_Intron|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.E257K|SERPINA3_uc001yds.3_Missense_Mutation_p.E257K	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	257					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.E257K(2)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CTTCCGGGACGAGGAGCTGTC	0.502000														43			26		0	0	1	0	0
IGFALS	3483	broad.mit.edu	37	16	1841107	1841107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1841107C>T	uc010uvn.2	-	1	1507	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	IGFALS_uc002cmy.3_Missense_Mutation_p.E438K|IGFALS_uc010uvo.2_Missense_Mutation_p.E72K	NM_001146006	NP_001139478	P35858	ALS_HUMAN	Homo sapiens insulin-like growth factor binding protein, acid labile subunit (IGFALS), transcript variant 1, mRNA.	438					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						AGGTCGAGCTCCAGCAGCTCC	0.682000														20			3		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389379	4389379	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4389379G>A	uc010qye.2	-	0	238	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I48I(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGGATAATGAAGATGAGCA	0.532000														28			13		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239161976	239161976	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:239161976G>A	uc002vyc.3	-	18	2925	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F	PER2_uc010znv.1_Silent_p.F896F	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	896	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AAGGGGCAGGGAAAGGTGGGG	0.652000														37			22		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140718688	140718688	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140718688G>A	uc003ljk.2	+	0	335	c.150G>A	c.(148-150)aaG>aaA	p.K50K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.K50K	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	50	Cadherin 1.				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)			ACATCGCCAAGGACTTGGGTT	0.617000											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		94			23		0	0	1	0	0
AK022382	0	broad.mit.edu	37	10	52389396	52389396	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:52389396C>T	uc001jjf.1	+	1		c.89C>T								Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082.																		CCCCAAGCTCCTCTATCAGAG	0.547000														53			25		0	0	1	0	0
FAIM2	23017	broad.mit.edu	37	12	50283911	50283911	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:50283911C>A	uc001rvj.2	-	7	737	c.552G>T	c.(550-552)ggG>ggT	p.G184G	FAIM2_uc001rvi.2_Silent_p.G138G	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA.	184					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						TGGACAGCATCCCAGTGAGGT	0.607000														62			8		3.09899e-07	3.10599e-07	1	1	0
TUBGCP5	114791	broad.mit.edu	37	15	22872489	22872489	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22872489C>T	uc001yuq.2	+	21	3148	c.3018C>T	c.(3016-3018)tcC>tcT	p.S1006S	TUBGCP5_uc001yur.4_Silent_p.S1006S	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	1006					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTAGAGGATCCTTTCCCCATT	0.323000														115			26		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35144275	35144275	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:35144275G>A	uc003teq.1	-	17	1940	c.833C>T	c.(832-834)tCc>tTc	p.S278F	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		GCATATCAAGGAAGCCATAAC	0.388000														40			12		0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23019757	23019757	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:23019757C>T	uc004daj.3	+	0	1680	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	528	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GATATAGTATCCCGAGGTCTT	0.378000														35			44		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121863	38121863	+	Silent	SNP	C	T	T	rs140427804		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38121863C>T	uc003atr.3	+	6	3571	c.3300C>T	c.(3298-3300)tcC>tcT	p.S1100S	TRIOBP_uc003atu.3_Silent_p.S928S|TRIOBP_uc003atq.1_Silent_p.S1100S|TRIOBP_uc003ats.1_Silent_p.S928S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1100					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.S1100S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGTGTCAGTCCCCCCAACACG	0.667000														177			69		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115226835	115226835	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:115226835C>T	uc001efe.2	-	4	679	c.631G>A	c.(631-633)Gag>Aag	p.E211K	AMPD1_uc001eff.2_Missense_Mutation_p.E207K	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	178					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)	Adenosine monophosphate(DB00131)	TAGAAGCTCTCATTTGCTACC	0.338000														88			51		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56035641	56035641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:56035641G>A	uc003pcs.3	-	4	1064	c.832C>T	c.(832-834)Cct>Tct	p.P278S	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.P278S|COL21A1_uc003pcu.1_Missense_Mutation_p.P278S	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	278	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TATGATGGAGGAAGACCTTCT	0.358000														25			5		0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76868887	76868887	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:76868887C>T	uc001jww.3	-	0	84	c.29G>A	c.(28-30)gGg>gAg	p.G10E	SAMD8_uc001jwx.2_5'Flank|SAMD8_uc001jwy.2_5'Flank|DUSP13_uc001jws.3_Missense_Mutation_p.G10E|DUSP13_uc001jwu.3_5'UTR|DUSP13_uc009xrs.3_5'UTR|DUSP13_uc001jwt.3_5'UTR|DUSP13_uc001jwv.3_5'UTR	NM_001007272	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 2, mRNA.	10						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GTCCTCTCCCCCCAGCTCTGG	0.637000														31			20		0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121469298	121469298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:121469298G>A	uc001tzj.1	-	2	610	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	OASL_uc001tzk.1_Missense_Mutation_p.R202W	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	202					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTAGTTGGCCGATGTTTCACG	0.587000														76			30		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47041551	47041551	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:47041551C>T	uc003cqp.3	+	26	4141	c.3962C>T	c.(3961-3963)cCc>cTc	p.P1321L	NBEAL2_uc010hjm.2_Intron|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1321	Pro-rich.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCAAGCCACCCACTGAGTCA	0.637000														62			20		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101720918	101720918	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:101720918C>T	uc001tia.1	+	25	3257	c.3101C>T	c.(3100-3102)tCa>tTa	p.S1034L		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1034					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAATCTGCTTCAGGCACCCGC	0.463000														101			38		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542276	55542276	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55542276A>G	uc003xsd.1	+	3	5982	c.5834A>G	c.(5833-5835)aAt>aGt	p.N1945S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1945					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATATTGAAAATTTCTTGGGT	0.353000														93			23		0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44470085	44470085	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44470085C>T	uc002oxx.2	+	5	759	c.431C>T	c.(430-432)tCt>tTt	p.S144F	ZNF221_uc010ejb.1_Missense_Mutation_p.S144F|ZNF221_uc010xws.1_Missense_Mutation_p.S144F	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	Homo sapiens zinc finger protein 221 (ZNF221), mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S144T(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AGGAACAGCTCTCAGTTCTTC	0.443000														110			27		0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026534	176026534	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176026534G>A	uc003meo.1	-	1	477	c.302C>T	c.(301-303)cCc>cTc	p.P101L	GPRIN1_uc021yif.1_Missense_Mutation_p.P101L	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	101						growth cone|plasma membrane		p.S100F(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACTCCTGGGGAGAGAAGCA	0.647000														50			22		0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52370317	52370317	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52370317C>T	uc010snn.2	+	2	615	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	ACVR1B_uc001rzl.3_Nonsense_Mutation_p.Q180*|ACVR1B_uc001rzm.3_Nonsense_Mutation_p.Q180*|ACVR1B_uc001rzn.3_Nonsense_Mutation_p.Q180*|ACVR1B_uc021qya.1_Nonsense_Mutation_p.Q128*	NM_020328	NP_064733	P36896	ACV1B_HUMAN	Homo sapiens activin A receptor, type IB (ACVR1B), transcript variant 3, mRNA.	180	GS.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	ATP binding|SMAD binding|activin receptor activity, type I|metal ion binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CAAGACGCTCCAGGATCTTGT	0.502000														113			16		0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66359609	66359610	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66359609_66359610GG>AA	uc001oiq.4	-	0	945_946	c.877_878CC>TT	c.(877-879)ccc>TTc	p.P293F	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	293										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCTGCTGGTGGGGGCCACAGGA	0.604000														73			35		0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46244896	46244896	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46244896G>A	uc003cph.1	-	1	980	c.909C>T	c.(907-909)ttC>ttT	p.F303F	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.F303F	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	303					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TCTCACCAACGAAGGCGTAGA	0.582000														30			17		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121981017	121981017	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121981017G>A	uc003eew.4	+	3	1573	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	CASR_uc003eev.4_Missense_Mutation_p.E379K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	379					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)	AGGTCACGAAGAAAGTGGCGA	0.493000														54			27		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684479	100684479	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100684479C>T	uc003uxp.1	+	2	9835	c.9782C>T	c.(9781-9783)tCa>tTa	p.S3261L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3261	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCAGTTCATCTCCTCCC	0.527000														469			214		0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48165182	48165182	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48165182C>T	uc010dbm.3	+	23	3458	c.2994C>T	c.(2992-2994)gcC>gcT	p.A998A	ITGA3_uc010dbl.3_Silent_p.A998A	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	998					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGCTGGTGGCCGTGGGTGCAG	0.642000														11			7		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38793807	38793807	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38793807G>A	uc003ciq.3	-	10	1658	c.1658C>T	c.(1657-1659)cCt>cTt	p.P553L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	553					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTGAGGAAGAGGGCTTCTAGG	0.612000														71			37		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43250678	43250678	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43250678G>A	uc003ouq.1	+	13	2479	c.2200G>A	c.(2200-2202)Gaa>Aaa	p.E734K	TTBK1_uc021yzs.1_Missense_Mutation_p.E22K	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	734	Glu-rich.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGGGAaggaggaagaggagga	0.577000														31			22		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325305	158325305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158325305C>T	uc001fse.3	+	2	864	c.571C>T	c.(571-573)Cct>Tct	p.P191S	CD1E_uc010pid.2_Missense_Mutation_p.P189S|CD1E_uc010pie.2_Missense_Mutation_p.P92S|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.P191S|CD1E_uc001fsf.3_Missense_Mutation_p.P191S|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Missense_Mutation_p.P92S|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.P191S|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	191	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)					TCACACCTGCCCTCGATTTCT	0.502000														45			4		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165179969	165179969	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:165179969G>A	uc001gcz.2	-	5	908	c.714C>T	c.(712-714)gtC>gtT	p.V238V	LMX1A_uc021pdz.1_Silent_p.V238V|LMX1A_uc021pdy.1_5'UTR|LMX1A_uc001gcw.2_5'UTR	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	238						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V238V(2)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					ACACCTGGACGACACGGACAC	0.483000														35			18		0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328209	48328209	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:48328209C>T	uc010rhu.2	+	0	435	c.435C>T	c.(433-435)gcC>gcT	p.A145A		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G144E(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TAGCGGGGGCCTCCTGGTTAG	0.562000														43			41		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39903468	39903468	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:39903468C>T	uc021olw.1	+	35	13337	c.13337C>T	c.(13336-13338)cCt>cTt	p.P4446L	MACF1_uc021ols.1_Missense_Mutation_p.P3941L|MACF1_uc021olt.1_Missense_Mutation_p.P3944L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6018					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAATTGAGCCTATGTTGGAG	0.423000														118			41		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189898822	189898822	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189898822C>T	uc002uqk.3	-	53	4749	c.4474G>A	c.(4474-4476)Gaa>Aaa	p.E1492K	COL5A2_uc010frx.3_Missense_Mutation_p.E1068K	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1492	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGCCCAATTTCAACGCCGAAT	0.463000														53			30		0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446228	29446228	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:29446228C>T	uc003aeg.3	+	7	2059	c.2059C>T	c.(2059-2061)Ctc>Ttc	p.L687F	ZNRF3_uc021wnq.1_Missense_Mutation_p.L587F	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	687						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						AGAAGTGGGGCTCGAGGCTTC	0.667000														73			8		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45802612	45802612	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45802612C>T	uc010gpt.1	+	8	1327	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	TRPM2_uc002zet.1_Silent_p.I409I|TRPM2_uc002zeu.1_Silent_p.I409I|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.I409I|TRPM2_uc002zex.1_Silent_p.I195I	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	409						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCCAAGATATCGTCCGGAGGC	0.562000														24			7		0	0	1	0	0
RNMT	8731	broad.mit.edu	37	18	13742516	13742516	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:13742516C>T	uc002ksk.1	+	6	1071	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	RNMT_uc002ksl.1_Missense_Mutation_p.S335L|RNMT_uc002ksm.1_Missense_Mutation_p.S335L|RNMT_uc010dlk.2_Missense_Mutation_p.S335L|RNMT_uc010xae.1_Non-coding_Transcript	NM_003799	NP_003790	O43148	MCES_HUMAN	Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA.	335					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	RNA binding|mRNA (guanine-N7-)-methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GAAACAGAATCATTTGGAAAT	0.328000														82			40		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136564711	136564711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136564711G>A	uc002tuu.1	-	8	4171	c.4160C>T	c.(4159-4161)tCt>tTt	p.S1387F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1387	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.S1387F(2)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATATGCAGCAGAAGCTGCACT	0.567000														81			16		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28710605	28710605	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28710605C>T	uc002kwn.3	-	15	2819	c.2557G>A	c.(2557-2559)Gaa>Aaa	p.E853K	DSC1_uc002kwm.3_3'UTR|BC042382_uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	853					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCTTTGCCTTCATAGTTATAC	0.428000														133			55		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2539368	2539368	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:2539368G>A	uc002wgf.1	+	2	364	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	TMC2_uc002wgg.1_Missense_Mutation_p.E101K|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	117	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCCAAAGAGGGAAAAGGAGAT	0.652000														25			4		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89391179	89391179	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89391179G>A	uc010upo.1	+	8	2016	c.1642G>A	c.(1642-1644)Gac>Aac	p.D548N	ACAN_uc002bmx.3_Missense_Mutation_p.D548N|ACAN_uc010upp.1_Missense_Mutation_p.D548N|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	548					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)			ATGCGTGGGTGACAAGGACAG	0.587000														110			35		0	0	1	0	0
OXCT2	64064	broad.mit.edu	37	1	40236066	40236066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:40236066C>T	uc001ceb.1	-	0	955	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	Homo sapiens 3-oxoacid CoA transferase 2 (OXCT2), mRNA.	288					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	TCTCCATCTTCCTCTTTCAGG	0.517000											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		241			32		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168180021	168180021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:168180021C>T	uc010jjg.3	-	17	2332	c.1912G>A	c.(1912-1914)Gac>Aac	p.D638N	SLIT3_uc003mab.3_Missense_Mutation_p.D638N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	638					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCGATTGTCATAGAGGGAC	0.572000														37			12		0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43708058	43708058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43708058C>T	uc011aev.2	+	8	1140	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	ABCG1_uc002zam.3_Missense_Mutation_p.R323W|ABCG1_uc002zan.3_Missense_Mutation_p.R347W|ABCG1_uc002zao.3_Missense_Mutation_p.R342W|ABCG1_uc002zap.3_Missense_Mutation_p.R345W|ABCG1_uc002zaq.3_Missense_Mutation_p.R345W|ABCG1_uc002zar.3_Missense_Mutation_p.R356W|ABCG1_uc010gpb.2_5'UTR	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	345					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GAGAGCGGTTCGGGAGGGCAT	0.602000														218			46		0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35366948	35366948	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35366948C>T	uc003zwr.3	+	10	1464	c.1172C>T	c.(1171-1173)cCa>cTa	p.P391L	UNC13B_uc010mkl.1_Nonsense_Mutation_p.Q399*|UNC13B_uc003zwq.3_Missense_Mutation_p.P391L|UNC13B_uc010mkm.1_Non-coding_Transcript	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	391					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TTAAAGATTCCAGATGATGGT	0.448000														55			12		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169801120	169801120	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169801120G>A	uc002ueo.1	-	20	2731	c.2605C>T	c.(2605-2607)Caa>Taa	p.Q869*	ABCB11_uc010zda.1_Nonsense_Mutation_p.Q311*|ABCB11_uc010zdb.1_Nonsense_Mutation_p.Q345*	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	869	ABC transmembrane type-1 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTCACCCCTTGAACTTGGGAA	0.433000														226			23		0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	193059173	193059173	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:193059173G>A	uc002utc.3	-	0	472	c.78C>T	c.(76-78)ccC>ccT	p.P26P	TMEFF2_uc002utd.1_Silent_p.P26P	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	26						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			GTAGCATGACGGGCAGCAGCA	0.597000														72			27		0	0	1	0	0
ME3	10873	broad.mit.edu	37	11	86382822	86382822	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:86382822C>T	uc001pbz.3	-	0	419	c.165G>A	c.(163-165)agG>agA	p.R55R	ME3_uc001pca.3_Silent_p.R55R|ME3_uc009yvk.3_Silent_p.R55R|ME3_uc010rtr.1_Non-coding_Transcript	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	55					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GATGAGGGTTCCTGGTGACAT	0.682000														50			23		0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8051146	8051146	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:8051146C>T	uc010qbd.2	+	4	2421	c.2421C>T	c.(2419-2421)ctC>ctT	p.L807L		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	807	Pro-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						gccccatgctcgtcagccctg	0.806000														7			5		0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615680	55615680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55615680G>A	uc010spf.2	+	0	872	c.872G>A	c.(871-873)gGc>gAc	p.G291D		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G291V(2)|p.Y290Y(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						ATCATCTACGGCCTGAGGAAC	0.448000														58			24		0	0	1	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32918430	32918430	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32918430G>A	uc003ocm.2	-	1	325	c.239C>T	c.(238-240)cCt>cTt	p.P80L	HLA-DMA_uc011dqm.1_Missense_Mutation_p.P80L	NM_006120	NP_006111	Q31604	Q31604_HUMAN	Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA.	80						MHC class II protein complex|integral to membrane				kidney(1)|large_intestine(2)|lung(8)	11						GGGCAGGCGAGGCACCCGAGT	0.537000														110			25		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098663	144098663	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:144098663G>A	uc022aoj.1	-	3	320	c.320C>T	c.(319-321)gCt>gTt	p.A107V		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	107					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGGTCCTGCAGCCAGGGGCTT	0.607000														59			7		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155212010	155212010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:155212010C>T	uc021xge.1	-	15	2343	c.2066G>A	c.(2065-2067)cGa>cAa	p.R689Q	PLCH1_uc021xgd.1_Missense_Mutation_p.R689Q|PLCH1_uc021xgf.1_Missense_Mutation_p.R671Q	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	689	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTGCATCATTCGTCCTTCAGA	0.418000														73			21		0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97475240	97475240	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:97475240G>A	uc002swx.3	+	6	2412	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K	CNNM4_uc010yuy.2_3'UTR	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	772					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AGCCTCCCACGAGAATGCCAT	0.612000														28			14		0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12203533	12203533	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:12203533G>A	uc003bwm.3	+	9	1011	c.847G>A	c.(847-849)Gac>Aac	p.D283N	SYN2_uc003bwl.1_Missense_Mutation_p.D283N|SYN2_uc003bwn.3_5'UTR|TIMP4_uc003bwo.3_5'Flank	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	287					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AAACCACTACGACTTCCAGGA	0.527000														29			21		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178555117	178555117	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178555117G>A	uc003mjw.3	-	16	2562	c.2460C>T	c.(2458-2460)gtC>gtT	p.V820V		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	820	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCACCGGGATGACCTGTGCCA	0.582000														46			16		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82456472	82456472	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:82456472G>A	uc001dit.4	+	20	4036	c.3855G>A	c.(3853-3855)aaG>aaA	p.K1285K	LPHN2_uc001dis.3_Silent_p.K265K|LPHN2_uc001diu.3_Silent_p.K1285K|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Silent_p.K912K	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1341					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AACCCCAGAAGAAAGTGAAGT	0.517000														98			46		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657088	143657088	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143657088G>A	uc003wds.1	+	0	69	c.25G>A	c.(25-27)Gtg>Atg	p.V9M		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W8L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CCAGACTTGGGTGAGTGAATT	0.428000														159			15		0	0	1	0	0
KIFC2	90990	broad.mit.edu	37	8	145692663	145692663	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145692663G>A	uc003zcz.3	+	3	473	c.408G>A	c.(406-408)ggG>ggA	p.G136G	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	136					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCCCCAGGGGGAGGCAGGCCC	0.612000											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			45		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90049587	90049587	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:90049587C>A	uc003kju.3	+	53	11414	c.11318C>A	c.(11317-11319)cCt>cAt	p.P3773H	GPR98_uc003kjt.3_Missense_Mutation_p.P1479H|GPR98_uc003kjv.3_Missense_Mutation_p.P1373H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3773					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATGACTCACCTTTTGGCTTG	0.428000														26			5		0.000602214	0.00060283	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103573705	103573705	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:103573705C>T	uc001dum.3	-	0	348	c.30G>A	c.(28-30)acG>acA	p.T10T	COL11A1_uc001dul.3_Silent_p.T10T|COL11A1_uc001dun.3_Silent_p.T10T|COL11A1_uc009weh.3_Silent_p.T10T	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	10					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)		GCCACCGTTTCGTTTTCCACC	0.522000														43			18		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784861	82784861	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82784861G>A	uc003uhx.2	-	1	1385	c.1096C>T	c.(1096-1098)Ctt>Ttt	p.L366F	PCLO_uc003uhv.2_Missense_Mutation_p.L366F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	326	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P365_L366insRLSWRLSRTK(2)		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						GCAGGACCAAGAGGCTGAGCT	0.577000														38			8		0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43319611	43319611	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:43319611C>T	uc010dnk.3	+	8	1320	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	SLC14A1_uc002lbi.4_Silent_p.L178L|SLC14A1_uc010xcn.2_Silent_p.L310L|SLC14A1_uc002lbf.4_Silent_p.L310L|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Silent_p.L205L|SLC14A1_uc002lbh.4_Silent_p.L202L|SLC14A1_uc002lbj.4_Silent_p.L366L|SLC14A1_uc002lbk.4_Silent_p.L310L|SLC14A1_uc021ujg.1_Missense_Mutation_p.S261F	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	310						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						AAACCCACCTCCTGGCTCTTG	0.537000														69			28		0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55926894	55926894	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55926894G>T	uc010rja.2	-	0	900	c.900C>A	c.(898-900)gcC>gcA	p.A300A		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GCTTATAGAAGGCATTTTTCA	0.279000														70			13		3.27435e-08	3.28349e-08	1	1	0
RELN	5649	broad.mit.edu	37	7	103137058	103137058	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:103137058C>T	uc022ajr.1	-	55	9268	c.9108G>A	c.(9106-9108)gtG>gtA	p.V3036V	RELN_uc022ajq.1_Silent_p.V3036V|RELN_uc010liz.3_Silent_p.V3036V	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3036					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)		GAGCACGCTCCACCCCAGAGA	0.483000														72			20		0	0	1	0	0
KCTD4	386618	broad.mit.edu	37	13	45768148	45768148	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:45768148C>T	uc001uzx.4	-	1	959	c.555G>A	c.(553-555)gaG>gaA	p.E185E	GTF2F2_uc001uzw.3_Intron|KCTD4_uc021rjf.1_Silent_p.E185E	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 4 (KCTD4), mRNA.	185						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TTGAAAACTCCTCTGGAAATC	0.363000														107			51		0	0	1	0	0
S100A3	6274	broad.mit.edu	37	1	153520173	153520173	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153520173G>A	uc001fca.1	-	2	374	c.291C>T	c.(289-291)ccC>ccT	p.P97P	S100A4_uc001fby.3_5'Flank|S100A4_uc001fbz.3_5'Flank|AK307246_uc009wog.1_Intron	NM_002960	NP_002951	P33764	S10A3_HUMAN	Homo sapiens S100 calcium binding protein A3 (S100A3), mRNA.	97							calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGAGCAGGGGGGCTCTGAGG	0.622000														91			17		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86590635	86590635	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:86590635C>T	uc001dlj.3	-	2	1459	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.E462K	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	462					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TAGCTATTTTCGATGGGATAA	0.368000														68			16		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31743748	31743748	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31743748G>A	uc011dog.2	-	2	744	c.506C>T	c.(505-507)gCc>gTc	p.A169V	VWA7_uc003nxd.2_Intron|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	169						extracellular region											CACCTGCAGGGCATGAAGTGC	0.657000														145			75		0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681454	3681454	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:3681454C>T	uc001lye.1	+	2	806	c.705C>T	c.(703-705)ttC>ttT	p.F235F	ART1_uc009yeb.1_Silent_p.F235F	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	235					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	ACTCCTTCTTCCCTGGAGAGG	0.612000														64			34		0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53070220	53070220	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53070220C>T	uc001sau.1	-	6	1373	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K	KRT1_uc001sav.1_Silent_p.K438K	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	438	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TCTTGGCATCCTTGAGGGCAT	0.537000														65			23		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105905313	105905313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105905313G>A	uc001kxw.3	-	30	3981	c.3865C>T	c.(3865-3867)Cgc>Tgc	p.R1289C	WDR96_uc009xxq.3_Missense_Mutation_p.R568C	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1289										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTAAAGCTGCGATCCATAACC	0.368000														43			11		0	0	1	0	0
NOL10	79954	broad.mit.edu	37	2	10712207	10712207	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:10712207G>A	uc002raq.2	-	20	2182	c.2057C>T	c.(2056-2058)tCg>tTg	p.S686L	NOL10_uc010yje.1_Missense_Mutation_p.S660L|NOL10_uc010yjf.1_Missense_Mutation_p.S636L|NOL10_uc002rap.2_Missense_Mutation_p.S636L	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	Homo sapiens nucleolar protein 10 (NOL10), mRNA.	686						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TCAATGAAACGACCGTCCTCT	0.498000														166			67		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49063860	49063860	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:49063860G>A	uc003gyv.3	+	15	2235	c.2053G>A	c.(2053-2055)Gaa>Aaa	p.E685K	CWH43_uc011bzl.2_Missense_Mutation_p.E658K	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	685					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ACACAATTATGAAAACAACCA	0.259000														39			20		0	0	1	0	0
PION	54103	broad.mit.edu	37	7	76958702	76958702	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:76958702C>T	uc003ugf.3	-	20	1760	c.1681G>A	c.(1681-1683)Gga>Aga	p.G561R	PION_uc003ugd.3_5'Flank|PION_uc003ugg.1_3'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	561					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTCTTTTTCCTGTTTTCTAG	0.378000														40			15		0	0	1	0	0
BATF3	55509	broad.mit.edu	37	1	212860311	212860311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:212860311C>T	uc001hjl.2	-	2	429	c.206G>A	c.(205-207)aGc>aAc	p.S69N		NM_018664	NP_061134	Q9NR55	BATF3_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like 3 (BATF3), mRNA.	69	Leucine-zipper.				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781)		TTGCTCCAGGCTCTCATATTC	0.557000														136			69		0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81634807	81634807	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:81634807G>A	uc003uhr.1	-	17	1778	c.1522C>T	c.(1522-1524)Ccc>Tcc	p.P508S		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	508	Cache.					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)	TACCCATTGGGGCACAGCTGG	0.303000														10			3		0	0	1	0	0
GRINA	2907	broad.mit.edu	37	8	145066418	145066418	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145066418C>T	uc003zan.1	+	4	865	c.699C>T	c.(697-699)gtC>gtT	p.V233V	GRINA_uc003zao.1_Silent_p.V233V|GRINA_uc003zap.1_Silent_p.V233V	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	233						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCAGTCGGTCCTGACCGCCA	0.627000														41			18		0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627648	21627648	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:21627648G>A	uc004czx.2	+	19	3085	c.2605G>A	c.(2605-2607)Gat>Aat	p.D869N	CNKSR2_uc004czw.3_Missense_Mutation_p.D869N|CNKSR2_uc011mjn.2_Missense_Mutation_p.D820N|CNKSR2_uc011mjo.2_Missense_Mutation_p.D839N|CNKSR2_uc004czy.3_Missense_Mutation_p.D461N	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	869					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						TGACCCACAGGATGACGTGCA	0.522000														21			34		0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8069746	8069746	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:8069746C>T	uc002knn.4	+	7	1698	c.1195C>T	c.(1195-1197)Cgc>Tgc	p.R399C	PTPRM_uc010dkv.3_Missense_Mutation_p.R399C|PTPRM_uc010wzl.2_Missense_Mutation_p.R186C	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	399	Fibronectin type-III 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AATCACTATCCGCTGGGAGCC	0.423000														48			18		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143027960	143027960	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143027960C>T	uc003wcr.1	+	7	1036	c.949C>T	c.(949-951)Cga>Tga	p.R317*	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Silent_p.F112F	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	317			R -> Q (in THD).		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTTTGTGTTTCGAGTGCTGGC	0.517000														88			38		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184099748	184099748	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:184099748C>T	uc003fov.3	+	5	885	c.639C>T	c.(637-639)ttC>ttT	p.F213F	CHRD_uc003fow.3_5'UTR|CHRD_uc003fox.3_Silent_p.F213F|CHRD_uc003foy.3_5'UTR|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'Flank	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	213	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGATCCGCTTCTCAGACTCCA	0.612000														28			14		0	0	1	0	0
PRCC	5546	broad.mit.edu	37	1	156756843	156756843	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156756843C>T	uc001fqa.3	+	2	1250	c.960C>T	c.(958-960)ccC>ccT	p.P320P		NM_005973	NP_005964	Q92733	PRCC_HUMAN	Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA.	320					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAATGCCCCCCTTGAATTCA	0.572000			T	TFE3	papillary renal									168			82		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13363279	13363279	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:13363279G>A	uc003bxv.1	-	35	5055	c.4972C>T	c.(4972-4974)Ctg>Ttg	p.L1658L		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1658					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTCATGCTCAGGTGCTTCCGC	0.592000														298			41		0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44596418	44596418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44596418C>T	uc001clp.3	+	2	1218	c.1160C>T	c.(1159-1161)gCt>gTt	p.A387V		NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	387					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CCTCCTGCTGCTGGTCCTTAG	0.507000														72			8		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314291	54314291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54314291C>T	uc002qcj.4	-	2	842	c.622G>A	c.(622-624)Gag>Aag	p.E208K	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.E208K|NLRP12_uc002qci.4_Missense_Mutation_p.E208K|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.E208K	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	208					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.P207T(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CGCGGTGGCTCGGGGCGCTCC	0.647000														89			29		0	0	1	0	0
DHRS4	10901	broad.mit.edu	37	14	24424253	24424253	+	Silent	SNP	C	T	T	rs138564114	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24424253C>T	uc001wla.3	+	1	171	c.138C>T	c.(136-138)ttC>ttT	p.F46F	DHRS4-AS1_uc001wkz.2_5'Flank|DHRS4-AS1_uc001wky.2_5'Flank|DHRS4-AS1_uc001wkx.2_5'Flank|DHRS4-AS1_uc010akx.1_Non-coding_Transcript|DHRS4_uc010aky.2_Silent_p.F46F|DHRS4_uc001wlb.3_Silent_p.F46F|DHRS4_uc010akz.3_Silent_p.F46F|DHRS4_uc001wld.4_Silent_p.F46F|DHRS4_uc001wle.4_Silent_p.F46F|DHRS4_uc001wlc.4_Silent_p.F46F	NM_021004	NP_066284	Q9BTZ2	DHRS4_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 4 (DHRS4), mRNA.	46						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	GGATCGGCTTCGCCATCGCCC	0.617000														157			10		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48964347	48964347	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48964347C>T	uc010kyv.1	+	0	191	c.79C>T	c.(79-81)Cgt>Tgt	p.R27C						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		CGATCGCCTTCGTTTTGCCAT	0.527000														118			11		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180988	65180988	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:65180988G>A	uc002lke.1	-	1	2112	c.888C>T	c.(886-888)tcC>tcT	p.S296S	LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Silent_p.S296S	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	286						integral to membrane	isomerase activity|sulfotransferase activity	p.S296S(2)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ACTGTGTGACGGATTTAGCTG	0.388000														90			53		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131848526	131848526	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:131848526C>T	uc003ytd.4	-	11	2928	c.2672G>A	c.(2671-2673)gGa>gAa	p.G891E	ADCY8_uc010mds.3_Missense_Mutation_p.G760E	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	891					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CACTTACTCTCCACTGTGGTT	0.502000										HNSCC(32;0.087)				63			10		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278912	36278912	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36278912C>T	uc002obs.2	+	20	3106	c.2962C>T	c.(2962-2964)Cac>Tac	p.H988Y	ARHGAP33_uc002obt.2_Missense_Mutation_p.H985Y|ARHGAP33_uc002obv.1_Missense_Mutation_p.H737Y	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1149					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TCCCCCTGACCACCTTGGCTA	0.667000														71			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215640	140215640	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140215640G>A	uc003lhq.2	+	0	1672	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	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_uc011dac.2_Missense_Mutation_p.E558K	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	572	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAGAACGACAA	0.692000														129			56		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667561	157667561	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157667561G>A	uc001fqz.4	-	4	739	c.447C>T	c.(445-447)atC>atT	p.I149I	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Silent_p.I149I|FCRL3_uc001frc.1_Silent_p.I149I	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	149	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity	p.I149I(2)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AATTCACTGTGATCTTCTCTA	0.338000														118			51		0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729268	41729268	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:41729268C>T	uc003thq.3	-	1	1496	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	INHBA_uc003thr.3_Missense_Mutation_p.E421K	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	421					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.V420M(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCACACTCCTCCACGATCATG	0.463000										TSP Lung(11;0.080)				83			39		0	0	1	0	0
MRPL51	51258	broad.mit.edu	37	12	6601615	6601615	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6601615G>A	uc001qom.2	-	2	378	c.209C>T	c.(208-210)cCc>cTc	p.P70L	NCAPD2_uc009zen.1_5'Flank|NCAPD2_uc001qoo.2_5'Flank|NCAPD2_uc010sfd.1_5'Flank	NM_016497	NP_057581	Q4U2R6	RM51_HUMAN	Homo sapiens mitochondrial ribosomal protein L51 (MRPL51), nuclear gene encoding mitochondrial protein, mRNA.	70					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						CAGTTCTTTGGGGTGCTTTTC	0.443000														156			98		0	0	1	0	0
DEM1	64789	broad.mit.edu	37	1	40980428	40980428	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:40980428C>T	uc001cfp.3	+	2	417	c.212C>T	c.(211-213)tCa>tTa	p.S71L	DEM1_uc001cfq.3_Missense_Mutation_p.S71L|DEM1_uc001cfr.3_Missense_Mutation_p.S71L|DEM1_uc021omb.1_Missense_Mutation_p.S71L	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	Homo sapiens defects in morphology 1 homolog (S. cerevisiae) (DEM1), mRNA.	71							DNA binding|exonuclease activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|urinary_tract(2)	10						GATATATTATCACCCATGGAG	0.428000														147			41		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71778763	71778763	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71778763G>A	uc010fen.3	+	18	1860	c.1719G>A	c.(1717-1719)cgG>cgA	p.R573R	DYSF_uc010fei.3_Silent_p.R572R|DYSF_uc010feh.3_Silent_p.R541R|DYSF_uc002sig.4_Silent_p.R541R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.R586R|DYSF_uc010fee.3_Silent_p.R555R|DYSF_uc010fef.3_Silent_p.R572R|DYSF_uc002sie.3_Silent_p.R555R|DYSF_uc010feo.3_Silent_p.R587R|DYSF_uc010fej.3_Silent_p.R542R|DYSF_uc010fel.3_Silent_p.R542R|DYSF_uc010fem.3_Silent_p.R556R|DYSF_uc002sif.3_Silent_p.R556R|DYSF_uc010fek.3_Silent_p.R573R	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	555						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATCGTGGCCGGCTTCTGCTCT	0.637000														15			6		0	0	1	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2988351	2988351	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2988351C>T	uc002csd.3	+	7	2307	c.1944C>T	c.(1942-1944)caC>caT	p.H648H	FLYWCH1_uc002csb.3_Silent_p.H647H|FLYWCH1_uc002csc.3_Silent_p.H647H|FLYWCH1_uc010bsv.3_Silent_p.H372H|FLYWCH1_uc002cse.3_Silent_p.H103H	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	Homo sapiens FLYWCH-type zinc finger 1 (FLYWCH1), transcript variant 1, mRNA.	648						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						CCCAGGGCCACCGCATCATGG	0.682000														17			8		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15973617	15973617	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:15973617G>A	uc002gpo.3	-	30	4644	c.4375C>T	c.(4375-4377)Ctt>Ttt	p.L1459F	NCOR1_uc002gpn.3_Missense_Mutation_p.L1475F|NCOR1_uc002gpp.1_Missense_Mutation_p.L1366F|NCOR1_uc002gpm.3_5'Flank|NCOR1_uc010vwb.2_Missense_Mutation_p.L43F|NCOR1_uc010coy.3_Missense_Mutation_p.L367F|NCOR1_uc010vwc.2_Missense_Mutation_p.L270F	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1459	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTGGACCTAAGAACGGAGGGG	0.522000														113			46		0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183756736	183756736	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183756736C>T	uc011bqv.2	+	7	1338	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	HTR3D_uc003fmj.3_Silent_p.I271I|HTR3D_uc011bqu.2_Silent_p.I396I|HTR3D_uc010hxp.3_Silent_p.I225I	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.	446						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCTCCATCATCACCGTCATAT	0.567000														126			32		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76451897	76451897	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76451897C>T	uc010dhp.2	-	62	10124	c.9999G>A	c.(9997-9999)tcG>tcA	p.S3333S	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGATGTTTTCCGATGCTAATC	0.557000														35			8		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30024717	30024717	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:30024717G>A	uc001zcr.3	-	14	2412	c.1937C>T	c.(1936-1938)cCt>cTt	p.P646L	TJP1_uc010azl.3_Missense_Mutation_p.P634L|TJP1_uc001zcq.3_Missense_Mutation_p.P650L|TJP1_uc001zcs.3_Missense_Mutation_p.P646L	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	646	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AATGGTTACAGGCCTCAGAAA	0.368000														83			19		0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113084920	113084920	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:113084920C>T	uc003ead.2	-	18	2748	c.2681G>A	c.(2680-2682)aGg>aAg	p.R894K	WDR52_uc003eae.2_Missense_Mutation_p.R894K	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	894										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CATGTCTTTCCTTAGCATAAA	0.303000														129			44		0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5567942	5567942	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:5567942G>A	uc003sot.4	-	3	856	c.772C>T	c.(772-774)Cct>Tct	p.P258S	ACTB_uc003sor.4_Missense_Mutation_p.P136S|ACTB_uc003soq.4_Missense_Mutation_p.P136S	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	258					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AGTGCCTCAGGGCAGCGGAAC	0.617000														94			36		0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68699036	68699036	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:68699036G>A	uc003hdq.3	-	6	643	c.578C>T	c.(577-579)gCt>gTt	p.A193V	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc003hdp.3_5'UTR|TMPRSS11D_uc011caj.2_Missense_Mutation_p.A76V	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	193	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCCCTCCTCAGCCTCAGTGCC	0.522000														151			47		0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	868150	868150	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:868150G>A	uc002lqd.1	-	15	2736	c.2585C>T	c.(2584-2586)cCc>cTc	p.P862L	MED16_uc010drw.2_3'UTR|MED16_uc002lqe.3_3'UTR|MED16_uc002lqf.3_3'UTR|MED16_uc021umc.1_Non-coding_Transcript	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	862					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GGGGGTCCTGGGAGAGTGGTG	0.682000														17			5		0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156711020	156711020	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:156711020C>T	uc021xgh.1	+	8	1177	c.1063C>T	c.(1063-1065)Ctt>Ttt	p.L355F	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	64										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AACCAAAACTCTTCTGAATCA	0.323000														112			10		0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88417801	88417801	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:88417801C>T	uc010qmk.1	+	3	563	c.336C>T	c.(334-336)ctC>ctT	p.L112L	OPN4_uc001kdp.3_Silent_p.L112L|OPN4_uc001kdq.3_Silent_p.L101L|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	101					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GCAGAAGCCTCCGGACACCTG	0.562000														92			7		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35183432	35183432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:35183432C>T	uc002yta.1	+	20	2741	c.2473C>T	c.(2473-2475)Ccc>Tcc	p.P825S	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Missense_Mutation_p.P704S|ITSN1_uc002ysy.3_Missense_Mutation_p.P820S|ITSN1_uc002ysx.3_Missense_Mutation_p.P783S|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.P820S|ITSN1_uc010gmg.3_Missense_Mutation_p.P783S|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.P825S|ITSN1_uc010gmi.3_Missense_Mutation_p.P788S|ITSN1_uc002ytb.1_Missense_Mutation_p.P820S|ITSN1_uc002ytc.1_Missense_Mutation_p.P820S|ITSN1_uc010gmk.3_Missense_Mutation_p.P788S|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.P820S|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Missense_Mutation_p.P759S|ITSN1_uc021wip.1_Missense_Mutation_p.P714S|ITSN1_uc002ytf.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	825					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGCCCCTGCCCCCAAACTGGC	0.552000														105			23		0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19375544	19375544	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19375544G>A	uc002nmd.1	-	9	1113	c.1063C>T	c.(1063-1065)Ctt>Ttt	p.L355F	HAPLN4_uc002nmb.3_5'Flank|HAPLN4_uc002nmc.3_Intron	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Homo sapiens transmembrane 6 superfamily member 2 (TM6SF2), mRNA.	355						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GGCCACTGAAGGCAACGGTAG	0.622000														45			32		0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233655986	233655986	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233655986C>T	uc002vtj.4	+	13	1442	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L	GIGYF2_uc010zmj.1_Missense_Mutation_p.P371L|GIGYF2_uc002vtg.2_Missense_Mutation_p.P365L|GIGYF2_uc002vti.4_Missense_Mutation_p.P371L|GIGYF2_uc002vtk.4_Missense_Mutation_p.P371L|GIGYF2_uc002vth.4_Missense_Mutation_p.P365L|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Missense_Mutation_p.P202L	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	371					cell death		protein binding	p.A391P(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAGGAAACTCCCCAGACCTCA	0.438000														78			36		0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201355491	201355491	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201355491G>A	uc001gwm.3	-	2	1233	c.998C>T	c.(997-999)gCc>gTc	p.A333V	LAD1_uc009wzu.1_Missense_Mutation_p.A355V	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	333						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GAGGCGGGAGGCCACAGTCGG	0.667000														10			4		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4150369	4150369	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:4150369G>A	uc003smx.3	+	22	3538	c.3399G>A	c.(3397-3399)ctG>ctA	p.L1133L	SDK1_uc010kso.3_Silent_p.L409L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1133	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCAGATGCTGGAGATCCCAA	0.557000														40			23		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924606	70924606	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70924606G>A	uc021rvq.1	+	0	390	c.390G>A	c.(388-390)ggG>ggA	p.G130G	ADAM21_uc001xmd.3_Silent_p.G130G	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	130					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTTGTTTTGGGGGCTTTCGAG	0.453000														109			39		0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57872937	57872937	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57872937C>T	uc001sod.3	-	4	659	c.466G>A	c.(466-468)Gag>Aag	p.E156K	ARHGAP9_uc001snz.3_5'Flank|ARHGAP9_uc001soa.3_5'Flank|ARHGAP9_uc001sob.3_Missense_Mutation_p.E85K|ARHGAP9_uc001soc.3_Missense_Mutation_p.E85K|ARHGAP9_uc001soe.1_Missense_Mutation_p.E164K|ARHGAP9_uc010sro.1_Missense_Mutation_p.E85K	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	85					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			ATGGATTCCTCTATCATATAG	0.557000														118			10		0	0	1	0	0
SDF2L1	23753	broad.mit.edu	37	22	21998344	21998345	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:21998344_21998345CC>TT	uc002zvf.3	+	2	630_631	c.546_547CC>TT	c.(544-549)atccgt>atTTgt	p.R183C		NM_022044	NP_071327	Q9HCN8	SDF2L_HUMAN	Homo sapiens stromal cell-derived factor 2-like 1 (SDF2L1), mRNA.	183	MIR 3.					endoplasmic reticulum lumen|membrane				prostate(1)	1	Colorectal(54;0.105)					GAAGCCCCATCCGTGGGCAGCA	0.604000											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			15		0	0	1	0	0
HEYL	26508	broad.mit.edu	37	1	40092724	40092724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:40092724G>A	uc001cdp.3	-	4	493	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	HEYL_uc010oiw.2_Missense_Mutation_p.R120C	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA.	148	Orange.				Notch signaling pathway|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAGAGAAGGCGAATCCGGACG	0.627000														48			18		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48428731	48428731	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48428731G>A	uc001jfb.3	-	1	1583	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	GDF10_uc009xnp.3_Silent_p.F384F|GDF10_uc009xnq.2_Silent_p.F385F	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	385					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.F385F(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGATGTCTGCGAAGTCCACCT	0.552000														54			34		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202114	140202114	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140202114G>A	uc003lhl.2	+	0	754	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	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_uc003lhk.1_Missense_Mutation_p.E252K|PCDHAC2_uc003lhj.1_Missense_Mutation_p.E252K	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	268	Cadherin 2.				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)			CAGATTGTTGGAAAATGCACC	0.363000														104			25		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81697929	81697929	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81697929G>A	uc001kbh.3	-	7	850	c.807C>T	c.(805-807)ggC>ggT	p.G269G		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	269	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GTTTTACAAAGCCTGCTGTCT	0.542000														91			32		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206580936	206580936	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:206580936C>T	uc002vaw.3	+	2	1062	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	NRP2_uc002vat.3_Missense_Mutation_p.R91W|NRP2_uc002vau.3_Missense_Mutation_p.R91W|NRP2_uc002vav.3_Missense_Mutation_p.R91W|NRP2_uc002vax.3_Missense_Mutation_p.R91W|NRP2_uc002vay.3_Missense_Mutation_p.R91W|NRP2_uc010fud.3_Missense_Mutation_p.R91W	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	91	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TATCGAGATTCGGGATGGGGA	0.542000														112			49		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51743021	51743021	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:51743021C>T	uc010hlv.3	+	1	261	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	8					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GCTTGCGCTCCTGGCACTGCT	0.632000														19			7		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197298091	197298091	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197298091G>A	uc001gtz.3	+	1	819	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	CRB1_uc010poz.2_Missense_Mutation_p.E135K|CRB1_uc001gty.2_Missense_Mutation_p.E204K|CRB1_uc009wza.3_Missense_Mutation_p.E204K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.E204K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	204	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATGCCTCAATGAAATAGGAAG	0.443000														38			15		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26736598	26736598	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26736598G>A	uc003acb.3	+	10	2408	c.2212_splice	c.e10+1	p.E738_splice	SEZ6L_uc003acd.3_Splice_Site_p.E738_splice|SEZ6L_uc011akd.2_Splice_Site_p.E738_splice|SEZ6L_uc003ace.3_Splice_Site_p.E738_splice|SEZ6L_uc011akc.2_Splice_Site_p.E738_splice|SEZ6L_uc003acc.3_Splice_Site_p.E738_splice|SEZ6L_uc003acf.1_Splice_Site_p.E511_splice|SEZ6L_uc010gvc.1_Splice_Site_p.E511_splice	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	738	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GAACTACATAGGTAGGTGTCT	0.428000														49			7		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533831	31533831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31533831C>T	uc003aka.3	-	3	1060	c.931G>A	c.(931-933)Ggg>Agg	p.G311R		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	311					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TGTGGTGGCCCCTTCCGAAGG	0.647000														138			59		0	0	1	0	0
APBB3	10307	broad.mit.edu	37	5	139938380	139938380	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:139938380G>A	uc021yeh.1	-	12	1610	c.1251C>T	c.(1249-1251)gcC>gcT	p.A417A	SRA1_uc003lfz.3_5'Flank|SRA1_uc021yef.1_5'Flank|SRA1_uc003lga.3_5'Flank|SRA1_uc010jfm.3_5'Flank|APBB3_uc003lgb.1_Silent_p.A194A|APBB3_uc003lgc.1_Silent_p.A194A|APBB3_uc003lgd.1_Silent_p.A422A|APBB3_uc010jfp.1_Non-coding_Transcript|APBB3_uc011czi.1_Silent_p.A194A|APBB3_uc003lge.1_Silent_p.A415A|APBB3_uc021yeg.1_Silent_p.A424A|APBB3_uc003lgf.1_Non-coding_Transcript	NM_133173	NP_573419	O95704	APBB3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 3 (APBB3), transcript variant 2, mRNA.	417	PID 2.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGCAGAGGCCACAAGAC	0.627000														50			19		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166959017	166959017	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:166959017G>A	uc001gdy.1	+	1	247	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	MAEL_uc021peh.1_Missense_Mutation_p.R3Q|MAEL_uc001gdz.1_Intron|MAEL_uc009wvf.1_5'Flank	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	59					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GAAATGGCTCGAGAATGGAGG	0.527000														32			11		0	0	1	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65209693	65209693	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65209693C>T	uc002aoa.3	+	2	276	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F	ANKDD1A_uc002anx.1_Missense_Mutation_p.L83F|ANKDD1A_uc002any.3_5'UTR|ANKDD1A_uc002anz.3_Intron|ANKDD1A_uc002aob.3_Missense_Mutation_p.L53F	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.	83					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GGTAGGGGCCCTCACAGAGGC	0.637000														10			4		0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63676695	63676695	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63676695G>A	uc001nxw.3	+	18	2932	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K	MARK2_uc001nxv.4_Missense_Mutation_p.E721K|MARK2_uc001nxx.3_Missense_Mutation_p.E716K|MARK2_uc001nxy.3_Missense_Mutation_p.E706K|MARK2_uc001nxz.4_Missense_Mutation_p.E742K|MARK2_uc009yoy.3_Missense_Mutation_p.E696K	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	785	KA1.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AATAGCCAACGAGCTGAAGCT	0.647000														56			21		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111965556	111965556	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111965556G>A	uc001eba.3	-	5	657	c.601C>T	c.(601-603)Cta>Tta	p.L201L	OVGP1_uc001eaz.3_Silent_p.L163L|OVGP1_uc010owb.2_5'UTR	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	201					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CACCTTCCTAGAAAGCGCACA	0.557000														248			112		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62996844	62996844	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62996844G>A	uc001nwr.1	-	0	281	c.281C>T	c.(280-282)cCc>cTc	p.P94L	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.P94L	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	94					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CTTCCACTGGGGATGGACAAA	0.542000														82			15		0	0	1	0	0
CXorf41	139212	broad.mit.edu	37	X	106482183	106482183	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:106482183C>T	uc004end.3	+	6	798	c.461C>T	c.(460-462)tCt>tTt	p.S154F	CXorf41_uc004enc.3_Missense_Mutation_p.S154F	NM_001169154	NP_775765	Q9NQM4	CX041_HUMAN	Homo sapiens chromosome X open reading frame 41 (CXorf41), transcript variant 1, mRNA.	154										haematopoietic_and_lymphoid_tissue(1)|lung(5)	6						ACAAACCCTTCTGATATTCAA	0.299000														12			27		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25708275	25708275	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:25708275T>A	uc003xes.2	-	14	1796	c.1531A>T	c.(1531-1533)Atg>Ttg	p.M511L	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	511	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CTTGATGACATGACTGGAAAG	0.423000														45			20		0	0	1	0	0
AKR7A2	8574	broad.mit.edu	37	1	19635037	19635037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:19635037G>A	uc001bbw.3	-	1	420	c.398C>T	c.(397-399)cCc>cTc	p.P133L	AKR7A2_uc009vpi.1_Missense_Mutation_p.P133L	NM_003689	NP_003680	O43488	ARK72_HUMAN	Homo sapiens aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) (AKR7A2), mRNA.	133					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCACTTGGGGACACTGCAG	0.602000														72			13		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7636110	7636110	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7636110C>T	uc001qsz.3	-	11	3069	c.2941G>A	c.(2941-2943)Gaa>Aaa	p.E981K	CD163_uc001qta.3_Missense_Mutation_p.E981K|CD163_uc009zfw.2_Missense_Mutation_p.E1014K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	981	SRCR 9.				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						AACTCTGCTTCTTTGAATGCT	0.522000														91			45		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022284	161022284	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161022284C>T	uc001fxl.3	-	7	1232	c.886G>A	c.(886-888)Ggt>Agt	p.G296S	ARHGAP30_uc001fxk.3_Missense_Mutation_p.G296S|ARHGAP30_uc001fxm.3_Missense_Mutation_p.G142S|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.G142S	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	296					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCAGAGCGACCTAAATTGAAG	0.547000														243			95		0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51361366	51361366	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51361366C>T	uc021uyi.1	+	2	329	c.288C>T	c.(286-288)ttC>ttT	p.F96F	KLK3_uc002pts.1_Silent_p.F96F|KLK3_uc002ptr.1_Intron|KLK3_uc010eof.1_Intron	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	96	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GCCACAGCTTCCCACACCCGC	0.577000														47			23		0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582584	180582584	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:180582584C>T	uc011dhj.2	+	0	642	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATTCTCCATCATCGTGGCCT	0.517000														205			27		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73477502	73477502	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:73477502C>T	uc003tzw.3	+	26	1915	c.1824C>T	c.(1822-1824)gtC>gtT	p.V608V	ELN_uc003tzn.3_Silent_p.V602V|ELN_uc003tzy.3_Silent_p.V578V|ELN_uc003tzz.3_Silent_p.V521V|ELN_uc003tzo.3_Silent_p.V554V|ELN_uc003tzp.3_Silent_p.V513V|ELN_uc003tzq.3_Silent_p.V466V|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Silent_p.V583V|ELN_uc003tzt.3_Silent_p.V607V|ELN_uc003tzu.3_Silent_p.V588V|ELN_uc003tzv.3_Silent_p.V573V|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Silent_p.V592V|ELN_uc011kff.2_Silent_p.V602V	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	664	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGCCTGGGGTCCTTGGAGGGC	0.622000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							17			8		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43763125	43763125	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:43763125C>T	uc010skx.2	-	36	5506	c.5506G>A	c.(5506-5508)Gga>Aga	p.G1836R		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1836	GON.					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)		TAGCAATCTCCAGCTGTGGCA	0.318000														14			4		0	0	1	0	0
MANEA	79694	broad.mit.edu	37	6	96053623	96053623	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:96053623G>A	uc003poo.2	+	5	912	c.732_splice	c.e5-1	p.K244_splice		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.	244	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TTATTTTCTAGATATGGAAAT	0.348000														57			16		0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117122373	117122373	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:117122373G>A	uc001egq.1	-	10	3740	c.3035C>T	c.(3034-3036)tCc>tTc	p.S1012F	IGSF3_uc001egr.1_Missense_Mutation_p.S992F	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	992	Ig-like C2-type 8.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGTCCTCAGGGAATACCAGGC	0.612000														39			15		0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031306	56031306	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56031306C>T	uc010spq.2	+	0	631	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CATTATGATCCCCTTCTCTCT	0.557000														106			38		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882168	228882168	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228882168C>T	uc002vpq.2	-	6	3449	c.3402G>A	c.(3400-3402)gtG>gtA	p.V1134V	SPHKAP_uc002vpp.2_Silent_p.V1134V|SPHKAP_uc010zlx.1_Silent_p.V1134V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1134						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCATCTGGTTCACCATGAACC	0.527000														36			17		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90020763	90020763	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:90020763C>T	uc003kju.3	+	45	9959	c.9863C>T	c.(9862-9864)tCt>tTt	p.S3288F	GPR98_uc003kjt.3_Missense_Mutation_p.S994F|GPR98_uc003kjv.3_Missense_Mutation_p.S888F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3288					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAAATCATCTGTTACTGTT	0.294000														45			18		0	0	1	0	0
FOXD4L5	653427	broad.mit.edu	37	9	70177179	70177179	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:70177179G>A	uc010moc.3	-	0	1637	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.	269					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA 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			endometrium(5)|lung(2)	7						AGTAGGTAGCGAAGAGGATGC	0.706000														26			8		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128509	152128509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152128509C>T	uc001ezs.1	-	2	1131	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	356	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.D356N(2)		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						TTTGTCTGATCATAATGATAA	0.488000														650			285		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104999239	104999239	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:104999239C>T	uc004elz.1	+	9	2017	c.1261C>T	c.(1261-1263)Cct>Tct	p.P421S		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	421	TIR.				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						CTGTGACAATCCTGAAGAAGA	0.388000														38			47		0	0	1	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036637	13036637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:13036637C>T	uc009vnq.1	+	1	709	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	PRAMEF6_uc001aur.2_Intron	NM_001100631	NP_001094101	A3QJZ6	PRA22_HUMAN	Homo sapiens PRAME family member 22 (PRAMEF22), mRNA.	237								p.R237H(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						GAGGAATCTTCGCAAACTCTT	0.473000														220			79		0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274505	39274505	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39274505C>T	uc002hvz.3	-	0	102	c.63G>A	c.(61-63)caG>caA	p.Q21Q		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	21	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCAGGTCTCCTGGCAGAGGT	0.612000														29			10		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585704	82585704	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82585704G>A	uc003uhx.2	-	4	4854	c.4565C>T	c.(4564-4566)tCa>tTa	p.S1522L	PCLO_uc003uhv.2_Missense_Mutation_p.S1522L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1453					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						TGGAACAGGTGAGTTTTCACT	0.423000														31			18		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24167407	24167407	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24167407G>A	uc003xdy.3	+	3	234	c.151_splice	c.e3-1	p.E51_splice	ADAM28_uc003xdx.3_Splice_Site_p.E51_splice|ADAM28_uc011kzz.2_Splice_Site|ADAM28_uc011laa.2_Splice_Site	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	51					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATTTTTGCAGGAACAATTTGA	0.234000														112			17		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38903382	38903382	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38903382G>A	uc021yzh.1	+	76	11581	c.11472G>A	c.(11470-11472)gaG>gaA	p.E3824E	DNAH8_uc003ooe.2_Silent_p.E3607E|DNAH8_uc003oog.1_Silent_p.E56E|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TAGAGGCTGAGAGGGTTAAAC	0.313000														200			93		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703417	4703417	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4703417G>A	uc001lzk.2	-	1	769	c.525C>T	c.(523-525)caC>caT	p.H175H	OR51E2_uc021qcr.1_Silent_p.H175H	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CACAATAGGAGTGCGAGAGGA	0.532000														70			28		0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187885	37187885	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:37187885G>A	uc002hrd.1	+	0		c.1727G>A								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		TTTGGATCTGGAACTTACCTT	0.488000														44			29		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153030042	153030042	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:153030042G>A	uc011dcy.2	+	3	670	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	GRIA1_uc003lva.4_Missense_Mutation_p.E205K|GRIA1_uc003luy.4_Missense_Mutation_p.E205K|GRIA1_uc003luz.4_Missense_Mutation_p.E110K|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.E125K|GRIA1_uc011dcx.2_Missense_Mutation_p.E136K|GRIA1_uc011dcz.2_Missense_Mutation_p.E215K|GRIA1_uc010jia.1_Missense_Mutation_p.E185K	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	205					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.Q215H(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGTGGACTGTGAATCAGAACG	0.532000														47			17		0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74284974	74284974	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:74284974G>A	uc004ebz.3	-	12	1790	c.1765C>T	c.(1765-1767)Cat>Tat	p.H589Y	ABCB7_uc010nlt.3_Missense_Mutation_p.H548Y|ABCB7_uc004eca.3_Missense_Mutation_p.H588Y|ABCB7_uc011mqn.2_Missense_Mutation_p.H562Y|ABCB7_uc010nls.3_Missense_Mutation_p.H549Y	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	588	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	p.H589Y(2)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						ATTGCATCATGAAGTCCAGCT	0.433000														12			18		0	0	1	0	0
YTHDF2	51441	broad.mit.edu	37	1	29070059	29070059	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:29070059C>T	uc021okf.1	+	4	1540	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F	YTHDF2_uc001brc.3_Missense_Mutation_p.S426F|YTHDF2_uc010ofx.2_Missense_Mutation_p.S376F|YTHDF2_uc001bre.3_Missense_Mutation_p.S376F	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	426	YTH.				humoral immune response			p.R425S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ATTCACCGTTCCATTAAGTAT	0.423000														104			9		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50764888	50764888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50764888C>T	uc010enu.1	+	20	2628	c.2581C>T	c.(2581-2583)Cgc>Tgc	p.R861C	MYH14_uc002prq.1_Missense_Mutation_p.R828C|MYH14_uc002prr.1_Missense_Mutation_p.R820C	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	820					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ATACCTGGCTCGCAGGTGGGC	0.662000														13			13		0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153312970	153312970	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153312970G>A	uc001fbo.3	-	6	776	c.711C>T	c.(709-711)atC>atT	p.I237I	PGLYRP4_uc001fbp.3_Silent_p.I233I	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	237					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGGATAATGATGCCATACT	0.597000														65			25		0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158152041	158152041	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158152041C>T	uc001frr.3	+	3	1047	c.548C>T	c.(547-549)aCc>aTc	p.T183I	CD1D_uc009wsr.1_Missense_Mutation_p.T183I|CD1D_uc009wss.3_Missense_Mutation_p.T183I|CD1D_uc009wst.1_Missense_Mutation_p.T79I	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	183					T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CTTAATGGCACCTGCCCCCAA	0.552000														211			52		0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22846939	22846939	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22846939C>T	uc001yuq.2	+	7	944	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	TUBGCP5_uc001yur.4_Missense_Mutation_p.R272W|TUBGCP5_uc010axz.1_5'Flank	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	272					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TCAGGTTATTCGGGAAACCCT	0.353000														72			17		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140230425	140230425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140230425C>T	uc003lhu.2	+	0	3069	c.2345C>T	c.(2344-2346)tCt>tTt	p.S782F	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_uc003lht.1_Missense_Mutation_p.S782F	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	819					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)			TGTGCTGGATCTACAGAGCGA	0.488000														42			45		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70946800	70946800	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70946800C>T	uc001swb.4	-	19	4520	c.4490_splice	c.e19-1	p.G1497_splice	PTPRB_uc010sto.2_Splice_Site_p.G1407_splice|PTPRB_uc010stp.2_Splice_Site_p.G1407_splice|PTPRB_uc001swc.4_Splice_Site_p.G1715_splice|PTPRB_uc001swa.4_Splice_Site_p.G1627_splice	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1497	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTCATCACTGCCTGGAGGAGA	0.468000														128			32		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54919601	54919601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:54919601C>T	uc003dhf.3	+	22	2092	c.2044C>T	c.(2044-2046)Cct>Tct	p.P682S	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.P588S|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.P416S|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	682						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGGCAAAGAACCTCTGCTCCA	0.468000														9			6		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41516650	41516650	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41516650C>T	uc002yyq.1	-	16	3479	c.3027G>A	c.(3025-3027)aaG>aaA	p.K1009K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1009	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCAAATGTTTCTTGGGAGCCT	0.443000														56			14		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38793802	38793802	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38793802G>A	uc003ciq.3	-	10	1663	c.1663C>T	c.(1663-1665)Cct>Tct	p.P555S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	555					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGGGTTGAGGAAGAGGGCTT	0.602000														76			30		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183245205	183245205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:183245205C>T	uc003ivd.1	+	0	107	c.32C>T	c.(31-33)tCc>tTc	p.S11F	ODZ3_uc021xux.1_Missense_Mutation_p.S11F|ODZ3_uc010irv.1_Missense_Mutation_p.S11F	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	11	Teneurin N-terminal.				signal transduction	integral to membrane		p.C10F(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CCTTACTGCTCCCTGACCAAG	0.522000														28			13		0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46733247	46733247	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:46733247C>T	uc001cpl.2	+	8	1719	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	RAD54L_uc009vye.2_Silent_p.F336F	NM_003579	NP_003570	Q92698	RAD54_HUMAN	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.	336	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TTGAGTATTTCAGCTTGGTAC	0.493000								Direct reversal of damage;Homologous recombination						49			31		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522829	23522829	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:23522829C>T	uc003jgo.3	+	7	899	c.717C>T	c.(715-717)gcC>gcT	p.A239A		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	239					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						ACCGTTCAGCCCTCAGTCTGC	0.572000										HNSCC(3;0.000094)				42			11		0	0	1	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44364864	44364864	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44364864C>T	uc001ckb.3	+	8	870	c.693C>T	c.(691-693)atC>atT	p.I231I	ST3GAL3_uc010okj.1_Non-coding_Transcript|ST3GAL3_uc001cjz.3_Silent_p.I177I|ST3GAL3_uc001cka.3_Intron|ST3GAL3_uc001ckc.3_Silent_p.I162I|ST3GAL3_uc001ckd.3_Silent_p.I216I|ST3GAL3_uc001cke.3_Silent_p.I146I|ST3GAL3_uc001ckf.3_Silent_p.I200I|ST3GAL3_uc001ckg.3_Silent_p.I162I|ST3GAL3_uc001ckh.3_Intron|ST3GAL3_uc001cki.3_Intron|ST3GAL3_uc009vwx.3_Non-coding_Transcript|ST3GAL3_uc009vwz.3_Intron|ST3GAL3_uc001ckm.3_Silent_p.I161I|ST3GAL3_uc001ckn.3_Non-coding_Transcript|ST3GAL3_uc001cko.3_Silent_p.I146I|ST3GAL3_uc001ckp.3_Silent_p.I161I|ST3GAL3_uc009vxa.3_5'UTR|ST3GAL3_uc001ckq.3_Silent_p.I146I|ST3GAL3_uc001ckr.3_Silent_p.I115I|ST3GAL3_uc009vxb.3_Intron|ST3GAL3_uc009vwv.3_Silent_p.I162I|ST3GAL3_uc001ckj.3_Non-coding_Transcript|ST3GAL3_uc009vww.3_Non-coding_Transcript|ST3GAL3_uc001ckk.3_Silent_p.I131I|ST3GAL3_uc009vwy.3_Silent_p.I68I|ST3GAL3_uc001ckl.3_Silent_p.I162I	NM_174963	NP_777623	Q11203	SIAT6_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 3 (ST3GAL3), transcript variant 1, mRNA.	162					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GCTGCATCATCGTGGGCAATG	0.592000														75			24		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143098605	143098605	+	Missense_Mutation	SNP	G	A	A	rs74721927	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143098605G>A	uc003wcz.3	-	2	331	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	82						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CAATTGGAGCGAAGCCAGTGG	0.602000														249			20		0	0	1	0	0
MRPL54	116541	broad.mit.edu	37	19	3762665	3762665	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3762665G>A	uc002lyq.4	+	1	1	c.-33_splice	c.e1-1		APBA3_uc002lyp.1_5'Flank	NM_172251	NP_758455	Q6P161	RM54_HUMAN	Homo sapiens mitochondrial ribosomal protein L54 (MRPL54), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCTTCCGGAAACGTGCAC	0.622000														94			45		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115454199	115454199	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:115454199G>A	uc001efr.3	+	17	1734	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E509K|SYCP1_uc009wgw.3_Missense_Mutation_p.E509K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	509				IQLTAITTSEQYYSKEVKDLKTELENEK -> YSYCHYHKW TVLPKRGQRPKLSSKRE (in Ref. 2; BAA22586).	cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.N508N(1)	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)		GCTTGAAAACGAGAAGTATGT	0.249000														29			12		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35988894	35988894	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:35988894C>T	uc004ddj.3	+	10	1890	c.1824C>T	c.(1822-1824)ttC>ttT	p.F608F	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	608										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GGCCAATTTTCACAAAAGTTC	0.289000														5			7		0	0	1	0	0
DUSP10	11221	broad.mit.edu	37	1	221912437	221912437	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:221912437G>A	uc001hmy.2	-	1	887	c.650C>T	c.(649-651)tCc>tTc	p.S217F	DUSP10_uc001hmx.2_5'Flank|DUSP10_uc001hmz.2_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA.	217	Rhodanese.				JNK cascade|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TTCCCTACAGGAAATCAAGTC	0.468000														71			17		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117665424	117665424	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117665424C>T	uc001twn.2	-	23	4241	c.3530G>A	c.(3529-3531)tGg>tAg	p.W1177*	NOS1_uc021ren.1_Nonsense_Mutation_p.W807*|NOS1_uc021reo.1_Nonsense_Mutation_p.W807*|NOS1_uc001twm.2_Nonsense_Mutation_p.W1143*	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1143	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCCATTTCCATTCCTCGTA	0.592000														58			17		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31815971	31815971	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:31815971G>A	uc001ivs.4	+	8	3217	c.3154G>A	c.(3154-3156)Gaa>Aaa	p.E1052K	ZEB1_uc001ivr.4_Missense_Mutation_p.E834K|ZEB1_uc010qef.2_Missense_Mutation_p.E834K|ZEB1_uc001ivu.4_Missense_Mutation_p.E1053K|ZEB1_uc010qeh.2_Missense_Mutation_p.E985K|ZEB1_uc001ivv.4_Missense_Mutation_p.E1032K|ZEB1_uc001ivt.4_Missense_Mutation_p.E834K|ZEB1_uc009xlo.2_Missense_Mutation_p.E1035K|ZEB1_uc009xlp.3_Missense_Mutation_p.E1036K	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	1052	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				agaattgcaggaagaaaaaga	0.473000														15			5		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106431506	106431506	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:106431506G>A	uc003ymd.3	+	1	198	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	59					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAGCTGCGAAGAAGTGGAATA	0.358000														90			24		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94703957	94703957	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94703957G>A	uc001ycs.1	+	7	941	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	263						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTCTAGGGATGAAGGCAGCAG	0.348000														134			51		0	0	1	0	0
FRRS1L	23732	broad.mit.edu	37	9	111911944	111911944	+	Missense_Mutation	SNP	C	T	T	rs141125474	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:111911944C>T	uc004bdw.1	-	1	448	c.448G>A	c.(448-450)Gac>Aac	p.D150N		NM_014334	NP_055149	Q9P0K9	CI004_HUMAN	Homo sapiens chromosome 9 open reading frame 4 (C9orf4), mRNA.	150						integral to membrane											TTTCCACAGTCGTCCACTTTG	0.428000														38			4		0	0	1	0	0
KRT37	8688	broad.mit.edu	37	17	39579060	39579060	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39579060C>T	uc002hwp.1	-	2	749	c.702G>A	c.(700-702)gaG>gaA	p.E234E		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	234	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GGGAGAGCTGCTCCTCCTTCA	0.692000														22			18		0	0	1	0	0
ATG13	9776	broad.mit.edu	37	11	46686987	46686987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:46686987C>T	uc001nda.3	+	12	1682	c.1054C>T	c.(1054-1056)Cat>Tat	p.H352Y	ATG13_uc009yld.3_Missense_Mutation_p.H319Y|ATG13_uc001ndb.3_Missense_Mutation_p.H319Y|ATG13_uc001ncz.3_Missense_Mutation_p.H282Y|ATG13_uc001ndc.3_Missense_Mutation_p.H282Y|ATG13_uc010rgv.2_Missense_Mutation_p.H203Y	NM_001205119	NP_001192048	O75143	ATG13_HUMAN	Homo sapiens ATG13 autophagy related 13 homolog (S. cerevisiae) (ATG13), transcript variant 3, mRNA.	319					autophagic vacuole assembly	ULK1-ATG13-FIP200 complex|cytosol|pre-autophagosomal structure	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CCAGCCTGTCCATGGTACCCA	0.562000														45			25		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283989	152283989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152283989C>T	uc001ezu.1	-	2	3409	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1125	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGACTGTTCATGAGTGCTC	0.607000									Ichthyosis					339			128		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941645	22941645	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22941645G>A	uc021urt.1	-	3	1221	c.1066C>T	c.(1066-1068)Ctt>Ttt	p.L356F		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.L265I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTTTTCTAAGGGTTGAGGAC	0.368000														95			37		0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71125438	71125438	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:71125438C>T	uc002ass.3	-	2	500	c.429G>A	c.(427-429)cgG>cgA	p.R143R		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	143	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding	p.R143L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TTCTCCAGTCCCGTGTAAGAT	0.483000														80			24		0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52473641	52473641	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:52473641C>T	uc002egw.2	-	6	1398	c.1227G>A	c.(1225-1227)tcG>tcA	p.S409S	TOX3_uc010vgt.1_Silent_p.S404S	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	409					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	p.P408P(1)|p.P408T(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CCCCAATGTTCGAGGGCATGT	0.542000														114			50		0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146684103	146684103	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:146684103C>T	uc001epi.2	-	5	877	c.488_splice	c.e5-1	p.G163_splice	FMO5_uc001eph.4_Splice_Site_p.G163_splice|FMO5_uc001epj.2_Splice_Site_p.G163_splice|FMO5_uc001epk.4_Splice_Site_p.G163_splice	NM_001461	NP_001452	P49326	FMO5_HUMAN	Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA.	163						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CTTCTCAATTCCTGCAAGAGA	0.353000														113			10		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3200901	3200901	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:3200901G>A	uc022aqr.1	-	22	3936	c.3546C>T	c.(3544-3546)atC>atT	p.I1182I	CSMD1_uc011kwj.2_Silent_p.I575I|CSMD1_uc003wqe.3_Silent_p.I339I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1183	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCTGTTTAGGATCAGCCCCA	0.448000														63			19		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102469297	102469297	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:102469297C>T	uc001yks.2	+	22	5042	c.4878C>T	c.(4876-4878)ttC>ttT	p.F1626F		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1626	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGTCATCTTTCCCCAGGTAAG	0.463000														48			22		0	0	1	0	0
ULBP2	80328	broad.mit.edu	37	6	150266593	150266593	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:150266593G>A	uc003qno.3	+	1	307	c.234G>A	c.(232-234)ggG>ggA	p.G78G	ULBP2_uc011eeh.1_Silent_p.G78G|ULBP2_uc010kij.3_Silent_p.G78G	NM_025217	NP_079493	Q9BZM5	N2DL2_HUMAN	Homo sapiens UL16 binding protein 2 (ULBP2), mRNA.	78	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|cell surface|extracellular space	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GTCCCCTGGGGAAGAAACTAA	0.512000														156			78		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141497271	141497271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:141497271C>T	uc011bnd.2	+	0	229	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	49					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CGCGGAGCTCCGCCAGAAGCT	0.682000														33			5		0	0	1	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50684558	50684558	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:50684558C>T	uc003day.2	+	11	1562	c.920C>T	c.(919-921)tCg>tTg	p.S307L	MAPKAPK3_uc003daz.2_Missense_Mutation_p.S307L|MAPKAPK3_uc003dba.2_Missense_Mutation_p.S307L|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.S307L	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.	307					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		TTCCAGCAATCGATGGTAGTG	0.602000														9			7		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719138	140719138	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140719138G>A	uc003ljk.2	+	0	785	c.600G>A	c.(598-600)ctG>ctA	p.L200L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.L200L	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	200	Cadherin 2.				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)			AGCGCTCTCTGGACCGCGAGG	0.587000														61			29		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55452895	55452895	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55452895G>A	uc002qih.4	-	1	261	c.185C>T	c.(184-186)tCc>tTc	p.S62F	NLRP7_uc010esk.3_Missense_Mutation_p.S62F|NLRP7_uc002qig.4_Missense_Mutation_p.S62F|NLRP7_uc002qii.4_Missense_Mutation_p.S62F|NLRP7_uc010esl.3_Missense_Mutation_p.S90F	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	62	DAPIN.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ATTTTCTGAGGAGGTGTTGAC	0.468000														76			40		0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584900	1584900	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:1584900G>A	uc022brv.1	-	0	552	c.552C>T	c.(550-552)ctC>ctT	p.L184L	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.L184L	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	184						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCACGCTGGGGAGCATCGTCC	0.627000			T	CRLF2	"""B-ALL, Downs associated ALL"""									48			13		0	0	1	0	0
TREM2	54209	broad.mit.edu	37	6	41126689	41126689	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:41126689C>T	uc003opz.2	-	3	740	c.728G>A	c.(727-729)tGg>tAg	p.W243*	TREM2_uc003opy.2_Missense_Mutation_p.G200R|TREM2_uc010jxl.1_Intron			Q9NZC2	TREM2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells 2 (TREM2), mRNA.	0					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTTCTGTCCATGCCAGGCT	0.582000														56			21		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101566311	101566311	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:101566311G>A	uc002bwr.3	+	16	2693	c.2374G>A	c.(2374-2376)Ggc>Agc	p.G792S	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	792	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A792A(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGGGCCACAGGCTTCCCAGA	0.582000														64			12		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103467999	103467999	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:103467999C>T	uc001dum.3	-	22	2436	c.2118G>A	c.(2116-2118)ggG>ggA	p.G706G	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Silent_p.G694G|COL11A1_uc001dun.3_Silent_p.G655G|COL11A1_uc009weh.3_Silent_p.G578G	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	694	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)		GTCCTGGATTCCCTTGTTGAC	0.423000														9			5		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161116026	161116026	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:161116026G>A	uc003lyu.2	+	3	635	c.297G>A	c.(295-297)gaG>gaA	p.E99E	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	99					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGCCAACTGAGATTCTGAGTC	0.413000										TCGA Ovarian(5;0.080)				108			33		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842272	123842272	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:123842272G>A	uc001lfv.3	+	3	617	c.257G>A	c.(256-258)gGa>gAa	p.G86E	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.G86E|TACC2_uc010qtv.2_Missense_Mutation_p.G86E	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	86						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)				GACCCACAGGGAGCCAGGGGG	0.637000														88			30		0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106846214	106846214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:106846214G>A	uc022cce.1	+	0	2580	c.2212G>A	c.(2212-2214)Gac>Aac	p.D738N				Q5JV73	FRPD3_HUMAN	Homo sapiens mRNA for KIAA1817 protein, partial cds.	1682						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GGCCAATGTGGACAAGAGCCC	0.587000														19			21		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161039388	161039388	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161039388C>T	uc001fxl.3	-	0	373	c.27G>A	c.(25-27)aaG>aaA	p.K9K	ARHGAP30_uc001fxk.3_Silent_p.K9K|ARHGAP30_uc001fxm.3_5'UTR|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	9					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CGCTGCCCTTCTTCTTTCCTT	0.622000														74			36		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53225270	53225270	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53225270C>T	uc001sbb.3	-	1	651	c.618G>A	c.(616-618)ctG>ctA	p.L206L	KRT79_uc001sba.3_5'Flank	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	206	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.T205M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAAGTCTGTCCAGCGTGCTCC	0.612000														105			32		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552501	140552501	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140552501G>A	uc003lit.3	+	0	259	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	29					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A28A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTGGCGCCGAACCGCTTCG	0.517000														101			25		0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119461243	119461243	+	Missense_Mutation	SNP	C	A	A	rs3747835	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:119461243C>A	uc022bmo.1	+	0	1222	c.1222C>A	c.(1222-1224)Cgc>Agc	p.R408S	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.R408S|TRIM32_uc004bjx.2_Missense_Mutation_p.R408S	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	408			R -> C (in dbSNP:rs3747835).		fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor	nucleus	RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GAAGGAAATCCGCCGCAGCCC	0.512000														119			51		4.78724e-31	4.81625e-31	1	1	0
SLC26A5	375611	broad.mit.edu	37	7	103029809	103029809	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:103029809G>A	uc003vbz.3	-	12	1636	c.1374C>T	c.(1372-1374)ctC>ctT	p.L458L	SLC26A5_uc003vbt.2_Silent_p.L458L|SLC26A5_uc003vbu.2_Silent_p.L458L|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Intron|SLC26A5_uc010liy.3_Intron|SLC26A5_uc003vbx.3_Intron	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	458					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AGAAAAAGGGGAGATCTGAGA	0.438000														73			28		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8873709	8873709	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:8873709G>A	uc002qzc.2	-	28	4100	c.3918C>T	c.(3916-3918)cgC>cgT	p.R1306R	KIDINS220_uc010yiv.1_Silent_p.R1015R|KIDINS220_uc002qzd.2_Silent_p.R1207R|KIDINS220_uc002qzb.2_Silent_p.R160R	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1306					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGGAAGCGCGGCGAGCAGGCT	0.597000														73			34		0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56935685	56935685	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56935685C>T	uc010ygl.1	+	4	1823	c.1658C>T	c.(1657-1659)cCc>cTc	p.P553L	ZNF583_uc002qnc.2_Missense_Mutation_p.P553L|ZNF583_uc010ygm.1_Missense_Mutation_p.P553L	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ctttcctctccctcaccctcc	0.423000														23			13		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5708755	5708755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:5708755C>T	uc001qnm.2	-	20	2200	c.2128G>A	c.(2128-2130)Gaa>Aaa	p.E710K		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	715						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.T710I(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCTCCAGCTTCGGTCTCATCT	0.453000														78			34		0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169099050	169099050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169099050G>A	uc003irm.3	+	7	708	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	ANXA10_uc003irn.3_Missense_Mutation_p.E54K	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	182							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GGTCCTATGGGAAGCCTGTCA	0.502000														93			18		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204951123	204951123	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204951123C>T	uc010prc.2	+	19	2675	c.1146C>T	c.(1144-1146)tcC>tcT	p.S382S	NFASC_uc001hbj.3_Silent_p.S815S|NFASC_uc010pra.2_Silent_p.S811S|NFASC_uc001hbi.3_Silent_p.S811S|NFASC_uc010prb.2_Silent_p.S826S|NFASC_uc001hbk.1_Silent_p.S621S|NFASC_uc001hbl.2_Silent_p.S65S			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	815	Ig-like C2-type 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGCCAGAGTCCGTCATCGGTT	0.622000														9			5		0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043908	56043908	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56043908G>A	uc001nio.1	+	0	794	c.794G>A	c.(793-795)gGg>gAg	p.G265E		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ATTTATCATGGGACAATCCTC	0.413000														160			65		0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966723	23966723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:23966723G>A	uc002wts.3	-	2	427	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GGTLC1_uc002wtu.3_Silent_p.F98F|DQ583395_uc021wbk.1_5'Flank	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	98							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CTGGCTGGATGAAATTGGCAG	0.612000														116			32		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9100181	9100181	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:9100181G>A	uc001apo.3	-	5	931	c.639C>T	c.(637-639)ttC>ttT	p.F213F	SLC2A5_uc010nzy.2_Silent_p.F154F|SLC2A5_uc010nzz.2_Silent_p.F98F|SLC2A5_uc010oaa.2_Silent_p.F169F	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	213					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTCTCGGGGAAGAAGGGCA	0.682000														8			3		0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23397352	23397352	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23397352G>A	uc001whm.1	-	2	389	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	PRMT5_uc001whl.1_Missense_Mutation_p.R83C|PRMT5_uc010tnf.1_5'UTR|PRMT5_uc010tnh.1_Intron|PRMT5_uc010tng.1_Intron|PRMT5_uc001whn.1_Missense_Mutation_p.R83C|TRNA_uc021rqs.1_5'Flank|TRNA_uc021rqt.1_5'Flank	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	100					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GAGTTCCTGCGAATCTTCTCC	0.498000														102			7		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135428793	135428793	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:135428793C>T	uc004ezu.1	+	5	3219	c.2928C>T	c.(2926-2928)acC>acT	p.T976T	GPR112_uc010nsb.1_Silent_p.T771T|GPR112_uc010nsc.1_Silent_p.T743T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	976					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TATCAGAAACCAGTTTCTCCA	0.512000														112			16		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422852	26422852	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26422852G>A	uc003abz.1	+	42	7162	c.6912G>A	c.(6910-6912)agG>agA	p.R2304R	MYO18B_uc003aca.1_Silent_p.R2185R|MYO18B_uc010guy.1_Silent_p.R2186R|MYO18B_uc010guz.1_Silent_p.R2184R|MYO18B_uc011aka.1_Silent_p.R1458R|MYO18B_uc011akb.1_Silent_p.R1817R|MYO18B_uc010gva.1_Silent_p.R287R|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2304						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						TCTCGCTGAGGGTTGGGGCAA	0.607000														26			13		0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10403533	10403533	+	Missense_Mutation	SNP	C	T	T	rs140852122		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10403533C>T	uc002mnu.4	+	4	1272	c.1207C>T	c.(1207-1209)Cgt>Tgt	p.R403C	ICAM5_uc002mnv.4_Missense_Mutation_p.R278C	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	403					cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGCAGAGCTTCGTGTCCTATG	0.602000														59			14		0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839271	100839271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100839271C>T	uc003uyc.3	-	6	1149	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	MOGAT3_uc010lhr.3_Missense_Mutation_p.G260E	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	328					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CCACAGCTTTCCTTGTGCTCC	0.647000														59			32		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860201	16860201	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16860201T>C	uc002neu.4	+	5	1170	c.748T>C	c.(748-750)Ttg>Ctg	p.L250L	NWD1_uc002net.4_Silent_p.L115L|NWD1_uc002nev.4_Silent_p.L44L|NWD1_uc021uqg.1_Silent_p.L115L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	250							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						GAGCCGCGACTTGGTGAACCC	0.597000														47			21		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327514	57327514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57327514C>T	uc002qnu.2	-	6	2647	c.2296G>A	c.(2296-2298)Gaa>Aaa	p.E766K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E737K|PEG3_uc002qnv.2_Missense_Mutation_p.E766K|PEG3_uc002qnw.2_Missense_Mutation_p.E642K|PEG3_uc002qnx.2_Missense_Mutation_p.E640K|PEG3_uc010etr.2_Missense_Mutation_p.E766K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	766					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TAGACATTTTCCTTAGTGGGA	0.428000														218			57		0	0	1	0	0
UBE2Q2	92912	broad.mit.edu	37	15	76175737	76175737	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:76175737C>T	uc002bbg.2	+	8	1242	c.856C>T	c.(856-858)Cga>Tga	p.R286*	UBE2Q2_uc002bbh.2_Nonsense_Mutation_p.R251*|UBE2Q2_uc010umn.1_Nonsense_Mutation_p.R270*|UBE2Q2_uc002bbi.2_Nonsense_Mutation_p.R167*	NM_173469	NP_775740	Q8WVN8	UB2Q2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Q family member 2 (UBE2Q2), transcript variant 1, mRNA.	286					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						TCCATTTGTTCGAGTGGTGTT	0.284000														81			28		0	0	1	0	0
MFSD12	126321	broad.mit.edu	37	19	3547941	3547941	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3547941C>T	uc002lxw.3	-	3	912	c.742G>A	c.(742-744)Gag>Aag	p.E248K	MFSD12_uc002lxx.3_Missense_Mutation_p.E248K|MFSD12_uc002lxy.3_Missense_Mutation_p.E239K|MFSD12_uc002lxz.3_Missense_Mutation_p.E248K	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	248					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CCTGGCTCCTCCGCATGCGGC	0.701000														17			7		0	0	1	0	0
WIBG	84305	broad.mit.edu	37	12	56295662	56295662	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56295662G>A	uc001sif.1	-	2	761	c.609C>T	c.(607-609)ggC>ggT	p.G203G	WIBG_uc001sie.1_Silent_p.G202G	NM_032345	NP_115721	Q9BRP8	WIBG_HUMAN	Homo sapiens within bgcn homolog (Drosophila) (WIBG), transcript variant 1, mRNA.	203	eIF2A-like.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	RNA binding|protein binding|ribosome binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCCTCAGAGGCCTAACTCCA	0.577000														263			81		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118500911	118500911	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:118500911C>T	uc010jcl.1	+	20	5087	c.4906C>T	c.(4906-4908)Cct>Tct	p.P1636S	DMXL1_uc003ksd.2_Missense_Mutation_p.P1636S|DMXL1_uc021ycw.1_Missense_Mutation_p.P1463S	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1636										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAAGAATGATCCTTTAGATGC	0.289000														73			23		0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154744507	154744507	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154744507G>A	uc021pah.1	-	2	1706	c.1392C>T	c.(1390-1392)ctC>ctT	p.L464L	KCNN3_uc001ffo.3_Silent_p.L159L|KCNN3_uc001ffp.3_Silent_p.L464L|KCNN3_uc009wox.1_Silent_p.L464L	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	469						integral to membrane	calmodulin binding	p.L464L(2)|p.L159L(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TGCTGAACACGAGCAGCACAG	0.557000														67			23		0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42127077	42127077	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42127077C>T	uc001zoo.4	+	1	244	c.204C>T	c.(202-204)tcC>tcT	p.S68S	JMJD7-PLA2G4B_uc010bcm.1_Non-coding_Transcript|JMJD7-PLA2G4B_uc001zom.2_Intron|JMJD7-PLA2G4B_uc001zon.2_Silent_p.S68S|JMJD7-PLA2G4B_uc010bcn.3_Silent_p.S68S|JMJD7-PLA2G4B_uc001zop.1_5'UTR|JMJD7-PLA2G4B_uc001zoq.4_5'Flank	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	0	C2.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	p.W67R(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						AGAAGTGGTCCCTCCCCTATT	0.617000														72			25		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50158630	50158630	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:50158630C>T	uc001zxu.3	-	25	3221	c.3079G>A	c.(3079-3081)Ggg>Agg	p.G1027R	ATP8B4_uc010ber.3_Missense_Mutation_p.G900R|ATP8B4_uc010ufd.2_Missense_Mutation_p.G837R|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_Missense_Mutation_p.G30R	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	1027					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	p.G1027V(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCAATGCTCCCCCAGATGAAG	0.383000														89			31		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51370588	51370588	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:51370588G>A	uc011bds.2	+	35	3539	c.3516_splice	c.e35-1	p.S1172_splice		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1172	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCACCAATAGCCTGCTGGAG	0.522000														80			20		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13786434	13786434	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13786434C>T	uc003jfd.2	-	51	8716	c.8674G>A	c.(8674-8676)Gaa>Aaa	p.E2892K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2892					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)					TTAGGTGTTTCAGCATCAGCC	0.388000									Kartagener syndrome					44			22		0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4847814	4847814	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4847814G>A	uc002mbj.2	-	5	900	c.723C>T	c.(721-723)tcC>tcT	p.S241S	PLIN3_uc002mbk.2_Silent_p.S229S|PLIN3_uc002mbl.3_Silent_p.S241S	NM_005817	NP_005808	O60664	PLIN3_HUMAN	Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.	241					vesicle-mediated transport	Golgi apparatus|endosome membrane|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TCTCCGACAGGGAGCCCAGAC	0.637000														32			10		0	0	1	0	0
GNLY	10578	broad.mit.edu	37	2	85924772	85924772	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:85924772G>A	uc002sql.4	+	3	527	c.399G>A	c.(397-399)gaG>gaA	p.E133E	GNLY_uc010fgp.3_Silent_p.E118E|GNLY_uc010ysx.2_Silent_p.E160E	NM_006433	NP_006424	P22749	GNLY_HUMAN	Homo sapiens granulysin (GNLY), transcript variant NKG5, mRNA.	133	Saposin B-type.				cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		p.E133E(2)		endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						AGATCTGTGAGGACCTCAGGT	0.542000														45			4		0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12955431	12955431	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12955431C>T	uc001auo.3	-	1	321	c.248G>A	c.(247-249)aGg>aAg	p.R83K		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	83										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCAAGTCCCCTCAGGACAGC	0.612000														47			17		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65264471	65264471	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:65264471C>T	uc001xht.3	-	8	1209	c.1158G>A	c.(1156-1158)ggG>ggA	p.G386G	SPTB_uc001xhr.3_Silent_p.G386G|SPTB_uc001xhs.3_Silent_p.G386G|SPTB_uc001xhu.3_Silent_p.G386G	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	386					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACACTAGTTTCCCATCGTGGG	0.443000														147			38		0	0	1	0	0
GAGE1	2543	broad.mit.edu	37	X	49355801	49355801	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:49355801C>T	uc004doi.4	+	3	179	c.82_splice	c.e3-1	p.P28_splice	GAGE1_uc004doj.3_Intron	NM_001127212	NP_001120684	Q13065	GAGE1_HUMAN	Homo sapiens G antigen 2A (GAGE2A), mRNA.	29					cellular defense response							Ovarian(276;0.236)					ATTCCCCAGCCCGAGCAGTTC	0.438000														371			84		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412487	19412487	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19412487G>A	uc010tcj.1	-	0		c.33623C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTCTACTTCGGAAATATCAGA	0.343000														54			16		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45941801	45941801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45941801G>A	uc002zfe.1	-	8	1597	c.1531C>T	c.(1531-1533)Ctc>Ttc	p.L511F	TSPEAR_uc010gpv.1_Missense_Mutation_p.L443F	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	511					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GAGCCCAGGAGTCGGATGTAG	0.632000														65			23		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141752717	141752717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141752717C>T	uc003vwy.3	+	25	3146	c.3092C>T	c.(3091-3093)cCc>cTc	p.P1031L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1031					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)	AATGCCTTCCCCTCCACACCC	0.458000														70			20		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228860316	228860316	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228860316C>T	uc002vpq.2	-	7	4590	c.4543G>A	c.(4543-4545)Gag>Aag	p.E1515K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1515K|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1515						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCTGTGCTCTCCTCGCTGCTG	0.572000														92			52		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6650760	6650760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6650760G>A	uc001mem.1	-	11	5485	c.5084C>T	c.(5083-5085)tCt>tTt	p.S1695F		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1695	Cadherin 16.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATCCAGAGAAAAGCTTTC	0.547000														16			6		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74041116	74041116	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74041116C>T	uc002sjr.1	+	1	731	c.610C>T	c.(610-612)Ccc>Tcc	p.P204S		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	204										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCTGTCACTTCCCTGCCAGAT	0.473000														46			23		0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604639	58604639	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:58604639C>T	uc001nnd.4	-	4	456	c.325G>A	c.(325-327)Ggc>Agc	p.G109S	GLYATL2_uc009ymq.3_Missense_Mutation_p.G109S	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	109						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TCATCCAAGCCCTCTTGGCAA	0.393000														131			51		0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10465272	10465272	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10465272G>A	uc002moc.4	-	18	3009	c.2631C>T	c.(2629-2631)gtC>gtT	p.V877V	TYK2_uc010dxe.3_Silent_p.V692V	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	877					intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCACAGTCAAGACGTCAGCAA	0.582000														62			29		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216498859	216498859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:216498859C>T	uc001hku.1	-	5	1318	c.931G>A	c.(931-933)Gtc>Atc	p.V311I	USH2A_uc001hkv.3_Missense_Mutation_p.V311I	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	311	Laminin N-terminal.				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)		AAAGGGTGGACCCGCGGGTGG	0.527000										HNSCC(13;0.011)				81			19		0	0	1	0	0
CAPS2	84698	broad.mit.edu	37	12	75683475	75683475	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:75683475C>T	uc001sxl.3	-	13	1350	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	CAPS2_uc001sxm.3_Missense_Mutation_p.E228K|CAPS2_uc009zsa.2_Missense_Mutation_p.E50K|CAPS2_uc001sxi.4_Missense_Mutation_p.E196K|CAPS2_uc001sxj.4_Missense_Mutation_p.E371K|CAPS2_uc001sxk.4_Missense_Mutation_p.E460K	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	460							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CCATTTCCTTCCTTGTCCAAC	0.348000														123			10		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63064844	63064844	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63064844C>T	uc009yor.3	+	2	784	c.576C>T	c.(574-576)ttC>ttT	p.F192F	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	192						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCGCTGCCTTCGCTCCCACCT	0.428000														136			33		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126410110	126410110	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:126410110C>T	uc003vlr.2	-	5	1477	c.1166G>A	c.(1165-1167)cGa>cAa	p.R389Q	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R389Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R110Q	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	389					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCGAGCAATTCGCTCCAGCCC	0.383000										HNSCC(24;0.065)				17			7		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31736914	31736914	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31736914G>A	uc011dog.2	-	9	1622	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S	VWA7_uc003nxd.2_Missense_Mutation_p.P137S|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	462						extracellular region											AAACGCAGAGGGGACAAGATC	0.537000														67			16		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57176870	57176870	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:57176870C>T	uc003hbk.2	+	5	715	c.324C>T	c.(322-324)ctC>ctT	p.L108L	KIAA1211_uc010iha.2_Silent_p.L101L|KIAA1211_uc011bzz.1_Silent_p.L18L|KIAA1211_uc003hbl.3_Non-coding_Transcript|KIAA1211_uc003hbm.1_5'UTR	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	108										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTCTGAATCTCCCTGGAGCTG	0.423000														64			27		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117292939	117292939	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:117292939C>T	uc003vjd.3	+	23	4049	c.3917C>T	c.(3916-3918)cCc>cTc	p.P1306L	CFTR_uc011knq.2_Missense_Mutation_p.P712L	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1306	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AACTTGGATCCCTATGAACAG	0.299000									Cystic Fibrosis					95			8		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513626	78513626	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:78513626C>T	uc001syp.3	+	14	3823	c.3650C>T	c.(3649-3651)tCc>tTc	p.S1217F	NAV3_uc001syo.3_Missense_Mutation_p.S1217F|NAV3_uc010sub.2_Missense_Mutation_p.S717F|NAV3_uc009zsf.3_Missense_Mutation_p.S225F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1217	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						TTGTCAGGTTCCCCCAAATCC	0.522000										HNSCC(70;0.22)				82			25		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409091	105409091	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105409091C>T	uc010axc.1	-	6	12817	c.12697G>A	c.(12697-12699)Ggc>Agc	p.G4233S	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.G4133S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4233						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTGGGGGCCCTTGAGGGCC	0.647000														235			84		0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98110041	98110041	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:98110041T>A	uc011bgw.2	+	0	532	c.532T>A	c.(532-534)Ttc>Atc	p.F178I		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CAATCATTTTTTCTGTGATGT	0.363000														93			33		0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114145514	114145514	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:114145514G>A	uc004bfe.1	-	35	4314	c.4314C>T	c.(4312-4314)acC>acT	p.T1438T		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTTCCGTCACGGTGCTCATCA	0.483000														13			10		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65464345	65464345	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:65464345C>T	uc003dmn.3	-	3	1205	c.679G>A	c.(679-681)Gat>Aat	p.D227N	MAGI1_uc003dmm.3_Missense_Mutation_p.D227N|MAGI1_uc003dmo.3_Missense_Mutation_p.D227N|MAGI1_uc003dmp.3_Missense_Mutation_p.D227N|MAGI1_uc010hny.2_Missense_Mutation_p.D111N|MAGI1_uc021xac.1_Missense_Mutation_p.D227N|MAGI1_uc003dmr.3_Missense_Mutation_p.D227N	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	227	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTTTGCATATCATTGTAGGAC	0.512000														123			31		0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116605974	116605974	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:116605974C>T	uc001lcb.3	+	9	1581	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C	FAM160B1_uc001lcc.3_Missense_Mutation_p.R416C	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	416										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TCTGCTTCATCGCATCGTTCG	0.448000														206			89		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415701	105415701	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105415701C>T	uc010axc.1	-	6	6207	c.6087G>A	c.(6085-6087)ggG>ggA	p.G2029G	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.G1929G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2029						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTCAGGTCCCCCTGCATGG	0.662000														88			86		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6685009	6685009	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6685009C>T	uc002mfm.3	-	29	4021	c.3959G>A	c.(3958-3960)cGa>cAa	p.R1320Q		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1320		Cleavage; by factor I.	R -> Q (in C3D; allotype C3'F02'; may inhibit IC3B synthesis).		G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTCTTCTGATCGCAGGAGGCT	0.597000														41			12		0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735176	55735176	+	Missense_Mutation	SNP	G	A	A	rs142455941		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55735176G>A	uc010rit.2	-	0	764	c.764C>T	c.(763-765)cCa>cTa	p.P255L		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P255Q(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAACTGATGTGGTTTGGGCTG	0.393000														43			20		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165667	172165667	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:172165667G>A	uc003fib.2	-	0	580	c.537C>T	c.(535-537)ttC>ttT	p.F179F	GHSR_uc011bpv.2_Silent_p.F179F	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	179					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CGACTAGCACGAAGATGGGCC	0.662000														51			22		0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35524582	35524582	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35524582C>T	uc002nxo.2	+	2	520	c.387C>T	c.(385-387)ttC>ttT	p.F129F	SCN1B_uc002nxp.3_Silent_p.F129F|SCN1B_uc010xsg.2_Intron	NM_199037	NP_950238	Q07699	SCN1B_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant b, mRNA.	129	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGCTCTTCTTCGAAAACTACG	0.552000														122			52		0	0	1	0	0
NMNAT1	64802	broad.mit.edu	37	1	10042714	10042714	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:10042714C>T	uc001aqp.3	+	4	939	c.795C>T	c.(793-795)gtC>gtT	p.V265V		NM_022787	NP_073624	Q9HAN9	NMNA1_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 1 (NMNAT1), mRNA.	265					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		ATGCTGGGGTCATCCTGGCCC	0.453000														37			23		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7340402	7340403	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:7340402_7340403CC>TT	uc003bqm.2	+	2	1042_1043	c.768_769CC>TT	c.(766-771)atcccc>atTTcc	p.P257S	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.P257S|GRM7_uc003bql.2_Missense_Mutation_p.P257S|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	257					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CCGTGAGAATCCCCCAGGAACG	0.470000														63			33		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48796017	48796017	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:48796017C>T	uc001zwx.2	-	16	2475	c.2080G>A	c.(2080-2082)Gaa>Aaa	p.E694K		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	694	TB 3.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGGCAAGGTTCCCCAAATGCA	0.493000														71			28		0	0	1	0	0
SLC35D2	11046	broad.mit.edu	37	9	99126776	99126776	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:99126776G>A	uc004awc.3	-	2	325	c.249C>T	c.(247-249)ttC>ttT	p.F83F	SLC35D2_uc010msd.3_Non-coding_Transcript|SLC35D2_uc010msf.3_Silent_p.F83F	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	Homo sapiens solute carrier family 35, member D2 (SLC35D2), mRNA.	83						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				CAAAATCAGGGAAGTGAATGA	0.338000														127			46		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36845839	36845839	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36845839G>A	uc002xhy.1	-	12	2989	c.2717C>T	c.(2716-2718)gCc>gTc	p.A906V	KIAA1755_uc002xhv.1_5'UTR|KIAA1755_uc002xhw.1_5'UTR|KIAA1755_uc002xhx.1_Missense_Mutation_p.A184V	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	906										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CAGCTGAGCGGCCTGCTTGGA	0.692000														19			8		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	123953720	123953720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:123953720C>T	uc003ehg.3	+	2	314	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	KALRN_uc010hrv.1_Missense_Mutation_p.R63C|KALRN_uc003ehf.1_Missense_Mutation_p.R63C|KALRN_uc011bjy.1_Missense_Mutation_p.R63C	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	63	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTTCCCTGCTCGCAGCAATCA	0.537000														12			7		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248636944	248636944	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248636944C>T	uc001iel.1	+	0	293	c.293C>T	c.(292-294)tCc>tTc	p.S98F		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			GATACCATTTCCCCGTCAGGC	0.542000														41			15		0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217124258	217124258	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:217124258G>A	uc002vgb.3	-	3	2777	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	337						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GGTGGATGAGGAGGTCCGGGG	0.637000														29			11		0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	86996206	86996206	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:86996206G>A	uc003dqn.3	-	3	1313	c.949C>T	c.(949-951)Caa>Taa	p.Q317*		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CTCTTGTCTTGATGCTGTAGA	0.378000														92			10		0	0	1	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378908	142378908	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142378908G>A	uc003waa.1	+	1	176	c.176G>A	c.(175-177)gGa>gAa	p.G59E	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CAAGATCCAGGAATGGAACTA	0.438000														110			49		0	0	1	0	0
STAP1	26228	broad.mit.edu	37	4	68424640	68424640	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:68424640G>A	uc003hde.4	+	0	195	c.113G>A	c.(112-114)gGa>gAa	p.G38E	STAP1_uc003hdf.3_Missense_Mutation_p.G38E	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	38	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AAGCGGTCAGGATACCGGGTG	0.378000														113			48		0	0	1	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203834641	203834641	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:203834641G>A	uc002uzo.2	+	10	1234	c.954_splice	c.e10-1	p.R318_splice	ALS2CR8_uc010zhz.1_Splice_Site|ALS2CR8_uc010ftu.1_Splice_Site|ALS2CR8_uc010zia.1_Splice_Site_p.R242_splice|ALS2CR8_uc010zib.1_Splice_Site_p.R242_splice|ALS2CR8_uc010zic.1_Splice_Site_p.R230_splice|ALS2CR8_uc002uzp.2_Splice_Site_p.R318_splice	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	318										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						CTTGTATAAAGGATTTACATT	0.294000														40			13		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401262	89401262	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89401262G>A	uc010upo.1	+	11	5820	c.5446G>A	c.(5446-5448)Gtt>Att	p.V1816I	ACAN_uc010upp.1_Missense_Mutation_p.V1816I|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1816					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)			CCCTGACCTGGTTTCTGGTAC	0.512000														46			17		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20634826	20634826	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20634826C>T	uc002dhm.1	-	12	1784	c.1716G>A	c.(1714-1716)aaG>aaA	p.K572K	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.K572K	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	572					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						GACCAGTCTCCTTTTTCCGAA	0.493000														67			17		0	0	1	0	0
FGF21	26291	broad.mit.edu	37	19	49261309	49261309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49261309G>A	uc002pkn.1	+	3	1034	c.462G>A	c.(460-462)cgG>cgA	p.R154R	FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Silent_p.R154R	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.	154					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)		CCCCACACCGGGACCCTGCAC	0.682000														56			36		0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011723	138011723	+	Missense_Mutation	SNP	C	T	T	rs1049289		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:138011723C>T	uc010nar.3	+	5	1176	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	OLFM1_uc004cfl.4_Missense_Mutation_p.S368F|OLFM1_uc004cfn.4_Missense_Mutation_p.S137F	NM_014279	NP_055094	Q99784	NOE1_HUMAN	Homo sapiens olfactomedin 1 (OLFM1), transcript variant 1, mRNA.	386	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding	p.G385V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GACCCCGTGTCCCTGCAGACC	0.637000														35			16		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6031893	6031893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6031893C>T	uc001qnm.2	-	1	160	c.88G>A	c.(88-90)Gga>Aga	p.G30R	ANO2_uc021qtt.1_Missense_Mutation_p.G34R	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	34						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CACTGCTGTCCATGTTTGGGG	0.662000														12			4		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919328	130919328	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:130919328C>T	uc001uil.2	-	10	2369	c.2153G>A	c.(2152-2154)aGg>aAg	p.R718K	RIMBP2_uc001uim.3_Missense_Mutation_p.R626K	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	718						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGAGGCGCCCCTCCTCTTGAA	0.627000														81			54		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354001	57354001	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:57354001C>T	uc003xsz.2	-	1	715	c.634G>A	c.(634-636)Ggc>Agc	p.G212S	PENK_uc003xta.3_Missense_Mutation_p.G212S	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	212					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CTCATGAAGCCCCCATATCGC	0.537000														89			57		0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23305332	23305332	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:23305332G>A	uc003xdl.3	-	3	545	c.273C>T	c.(271-273)atC>atT	p.I91I	ENTPD4_uc011kzu.1_Silent_p.I91I|ENTPD4_uc003xdm.3_Silent_p.I91I|ENTPD4_uc011kzv.1_Silent_p.I91I|ENTPD4_uc011kzw.1_Silent_p.I57I	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA.	91					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	p.G90E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		AGTCCACCACGATCCCATAGT	0.458000														106			30		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45224880	45224880	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:45224880G>A	uc002xsf.2	-	4	750	c.710C>T	c.(709-711)tCc>tTc	p.S237F	SLC13A3_uc010ghn.2_Missense_Mutation_p.S206F|SLC13A3_uc010zxx.2_Missense_Mutation_p.S139F|SLC13A3_uc010zxw.2_Missense_Mutation_p.P215S|SLC13A3_uc002xsg.2_Missense_Mutation_p.S190F|SLC13A3_uc010gho.2_Missense_Mutation_p.S190F	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	237						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GTAGGGGATGGAGATGAGGAA	0.577000														93			35		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24509843	24509843	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:24509843C>T	uc003jgr.2	-	6	1594	c.1088G>A	c.(1087-1089)gGa>gAa	p.G363E	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	363	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		TTTAAATGGTCCTAGGTAATA	0.373000										HNSCC(23;0.051)				57			14		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120834	38120834	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38120834C>T	uc003atr.3	+	6	2542	c.2271C>T	c.(2269-2271)tcC>tcT	p.S757S	TRIOBP_uc003atu.3_Silent_p.S585S|TRIOBP_uc003atq.1_Silent_p.S757S|TRIOBP_uc003ats.1_Silent_p.S585S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	757					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCAGAGCCTCCTCTCCTAACA	0.572000														76			38		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13719036	13719036	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13719036C>T	uc003jfd.2	-	71	12496	c.12454G>A	c.(12454-12456)Gat>Aat	p.D4152N	DNAH5_uc003jfc.2_Missense_Mutation_p.D320N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4152	AAA 6 (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)					TGTGGAGGATCGTTGGCAAAT	0.453000									Kartagener syndrome					77			25		0	0	1	0	0
GALNTL2	117248	broad.mit.edu	37	3	16242248	16242248	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:16242248G>A	uc003car.4	+	2	1304	c.829G>A	c.(829-831)Gat>Aat	p.D277N	GALNTL2_uc003caq.4_Missense_Mutation_p.D10N	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	277	Catalytic subdomain A.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						AGCCACCGGGGATGTGCTCGT	0.622000														30			17		0	0	1	0	0
WFDC11	259239	broad.mit.edu	37	20	44278037	44278037	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44278037C>T	uc002xpa.3	-	4	296	c.101_splice	c.e4-1	p.R34_splice		NM_147197	NP_671730	Q8NEX6	WFD11_HUMAN	Homo sapiens WAP four-disulfide core domain 11 (WFDC11), mRNA.	34						extracellular region				endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				ACAATTCCTTCCCTGAAATTG	0.388000														139			41		0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242151573	242151573	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242151573C>T	uc002wax.2	+	15	1891	c.1788C>T	c.(1786-1788)ttC>ttT	p.F596F		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	596						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TCTTCCAGTTCGTCAACTTCT	0.582000														77			41		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118230488	118230488	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:118230488G>A	uc004era.4	-	7	1235	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	412										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTGTTTGCGGGGATTTAAAGT	0.468000														14			13		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936978	15936978	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:15936978G>A	uc003jfn.1	+	3	1640	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	387					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GAGGGGCTGCGAGGGCATCAC	0.617000														23			7		0	0	1	0	0
RHOXF2B	727940	broad.mit.edu	37	X	119293315	119293315	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:119293315C>T	uc004esl.4	+	1	664	c.474C>T	c.(472-474)ttC>ttT	p.F158F		NM_001099685	NP_115887	P0C7M4	RHF2B_HUMAN	Homo sapiens Rhox homeobox family, member 2B (RHOXF2B), mRNA.	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						GCGAGCAGTTCCCCAGTGAGT	0.652000														5			9		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87487747	87487747	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:87487747G>A	uc001kdl.1	-	9	1499	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Silent_p.F37F	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	466						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CATCTATGGAGAACCCTTTGT	0.493000										Multiple Myeloma(13;0.14)				170			30		0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176520147	176520147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176520147C>T	uc003mfl.3	+	8	1233	c.1066C>T	c.(1066-1068)Ccc>Tcc	p.P356S	FGFR4_uc003mfm.3_Missense_Mutation_p.P356S|FGFR4_uc011dfu.2_Missense_Mutation_p.P356S|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.3_Intron	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	356					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	AGAGGAGGACCCCACATGGAC	0.652000										TSP Lung(9;0.080)				43			18		0	0	1	0	0
TCEA3	6920	broad.mit.edu	37	1	23724045	23724045	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:23724045G>A	uc021oig.1	-	6	792	c.657C>T	c.(655-657)atC>atT	p.I219I	TCEA3_uc021oih.1_Silent_p.I198I	NM_003196	NP_003187	O75764	TCEA3_HUMAN	Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.	219	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TATGATCTTCGATTTCTGATG	0.498000														67			33		0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35255033	35255033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:35255033G>A	uc001wsk.3	-	13	2349	c.1781C>T	c.(1780-1782)cCc>cTc	p.P594L	BAZ1A_uc001wsl.3_Missense_Mutation_p.P562L	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	594					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CACTAGACTGGGATTGCTCAA	0.428000														125			12		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207872548	207872548	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207872548G>A	uc001hga.4	+	7	1278	c.1157G>A	c.(1156-1158)gGc>gAc	p.G386D	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	386	Sushi 6.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAATTAAAAGGCAGCTCTGCT	0.423000											OREG0014195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		93			32		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184765166	184765166	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:184765166C>T	uc001gra.3	-	13	1926	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	FAM129A_uc001grb.1_Missense_Mutation_p.E341K	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	578					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GACACACTTTCACTGGGCAAG	0.463000														97			24		0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230338999	230338999	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:230338999C>T	uc010pwa.1	+	2	409	c.337C>T	c.(337-339)Cga>Tga	p.R113*	GALNT2_uc010pvy.1_Nonsense_Mutation_p.R75*|GALNT2_uc010pvz.1_Non-coding_Transcript	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	113					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGATAAGCTTCGAATGGACAG	0.537000														97			42		0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57970781	57970781	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57970781G>A	uc010rkb.2	-	0	873	c.873C>T	c.(871-873)ttC>ttT	p.F291F		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	291					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)				TCACCACAGTGAATAGGACAG	0.453000														123			60		0	0	1	0	0
MSMB	4477	broad.mit.edu	37	10	51562358	51562358	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:51562358G>A	uc001jiq.3	+	3	335	c.303G>A	c.(301-303)aaG>aaA	p.K101K	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|MSMB_uc001jir.3_Missense_Mutation_p.R66K|NCOA4_uc009xon.3_5'Flank|NCOA4_uc010qhd.2_5'Flank|NCOA4_uc001jis.4_5'Flank|NCOA4_uc010qhe.2_5'Flank|NCOA4_uc010qhf.2_5'Flank	NM_002443	NP_002434	P08118	MSMB_HUMAN	Homo sapiens microseminoprotein, beta- (MSMB), transcript variant PSP94, mRNA.	101						extracellular space|nucleus				lung(4)|ovary(2)|prostate(1)	7						TGGAGAAGAAGGACCCAAAAA	0.468000														169			18		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484999	97484999	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:97484999C>T	uc001vmw.3	+	1	987	c.963C>T	c.(961-963)ggC>ggT	p.G321G		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	321						integral to membrane	sulfotransferase activity	p.V320M(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GCCTGGTGGGCTGCTATAACT	0.512000														71			29		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72036313	72036313	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:72036313G>A	uc001swo.2	-	5	1889	c.1530C>T	c.(1528-1530)tcC>tcT	p.S510S		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	510					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCTTATCTAAGGATCGCCTCA	0.373000														146			42		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947774	165947774	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:165947774C>T	uc002ucx.3	-	27	5381	c.4889G>A	c.(4888-4890)cGa>cAa	p.R1630Q	SCN3A_uc010zcy.2_Missense_Mutation_p.R113Q|SCN3A_uc002ucy.3_Missense_Mutation_p.R1581Q|SCN3A_uc002ucz.3_Missense_Mutation_p.R1581Q	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1630						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ACGTAGGATTCGGCCAATCCT	0.478000														113			52		0	0	1	0	0
DAZL	1618	broad.mit.edu	37	3	16636058	16636058	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:16636058C>T	uc003cba.3	-	7	951	c.663G>A	c.(661-663)agG>agA	p.R221R	DAZL_uc003cbb.3_Silent_p.R201R	NM_001190811	NP_001177740	Q92904	DAZL_HUMAN	Homo sapiens deleted in azoospermia-like (DAZL), transcript variant 1, mRNA.	201					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						CAACATAGCTCCTTTGCTCCC	0.308000														31			18		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111037	7111037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7111037G>A	uc001mfc.2	+	0	873	c.686G>A	c.(685-687)cGg>cAg	p.R229Q		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	229	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding	p.R229Q(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGCGAACCCCGGGGTTTTGCC	0.701000														19			13		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156814576	156814576	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156814576G>A	uc010pht.2	-	12	2796	c.2497C>T	c.(2497-2499)Ctt>Ttt	p.L833F	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	833	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGCGCAGAAGGACACTGTTC	0.617000														55			22		0	0	1	0	0
AQPEP	206338	broad.mit.edu	37	5	115348125	115348125	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:115348125C>T	uc003kro.3	+	14	2466	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	768					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AACTATAATTCGTGAAAATGT	0.289000														134			39		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160784397	160784397	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160784397G>A	uc001fwu.3	+	3	968	c.918G>A	c.(916-918)agG>agA	p.R306R	LY9_uc010pjs.1_Silent_p.R306R|LY9_uc001fwv.3_Silent_p.R306R|LY9_uc001fww.3_Silent_p.R306R|LY9_uc001fwy.1_Silent_p.R208R|LY9_uc001fwz.3_5'UTR	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	306	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTAAATCCAGGGATCCTTACA	0.532000														54			6		0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45322051	45322051	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45322051C>T	uc002ozu.3	+	9	1292	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	BCAM_uc002ozt.1_Silent_p.F416F	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	416	Ig-like C2-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CTATCACCTTCGATTCCAATG	0.627000														96			54		0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144359624	144359624	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:144359624C>T	uc003ijd.3	+	3	1425	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S	GAB1_uc003ije.3_Missense_Mutation_p.P356S|GAB1_uc011chq.2_Missense_Mutation_p.P253S	NM_207123	NP_997006	Q13480	GAB1_HUMAN	Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA.	356					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TGACCGATCTCCTGTGGAAAC	0.498000														88			27		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46263977	46263977	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:46263977C>T	uc011bzc.1	-	7	1272	c.860G>A	c.(859-861)tGg>tAg	p.W287*	GABRA2_uc003gxc.3_Nonsense_Mutation_p.W342*|GABRA2_uc010igc.2_Nonsense_Mutation_p.W342*|GABRA2_uc003gxe.3_Nonsense_Mutation_p.W342*			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	342					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATCCCAAGCCCATCCTCTTTT	0.383000														111			33		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99932090	99932090	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:99932090G>A	uc001pga.3	+	9	1631	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	CNTN5_uc009ywv.2_Missense_Mutation_p.G376E|CNTN5_uc001pfz.3_Missense_Mutation_p.G376E|CNTN5_uc021qpb.1_Missense_Mutation_p.G376E|CNTN5_uc021qpc.1_Missense_Mutation_p.G302E	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	376	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.R375H(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AACTCACGTGGAAAAAATTCC	0.423000														50			31		0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450081	158450081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158450081G>A	uc010pik.2	+	0	414	c.414G>A	c.(412-414)atG>atA	p.M138I	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M138I(2)|p.V137V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGGGTGTGATGGGTTATGATC	0.483000														272			92		0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150471471	150471471	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:150471471C>T	uc001euq.3	+	11	1507	c.1500C>T	c.(1498-1500)ggC>ggT	p.G500G	TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Silent_p.G418G|TARS2_uc009wlt.3_Silent_p.G126G|TARS2_uc009wls.3_Silent_p.G370G	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	500					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGCCATCTGGCTTCCTGGGGG	0.562000														125			10		0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74684153	74684153	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:74684153G>A	uc001jte.1	+	6	1336	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	OIT3_uc009xqs.1_Intron	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	373	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CCCAACCTTCGAAACTCCCCA	0.512000														59			22		0	0	1	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12253142	12253142	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12253142C>T	uc001att.3	+	5	863	c.774C>T	c.(772-774)ttC>ttT	p.F258F	TNFRSF1B_uc001atu.3_Silent_p.F63F|TNFRSF1B_uc009vnk.3_Non-coding_Transcript	NM_001066	NP_001057	P20333	TNR1B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1B (TNFRSF1B), mRNA.	258					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	CTGGCGACTTCGCTCTTCCAG	0.547000														30			4		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221228	118221228	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:118221228C>T	uc004era.4	-	10	3965	c.3965G>A	c.(3964-3966)aGg>aAg	p.R1322K		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1322										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTAGAATTCCTCCACTCTTT	0.488000														157			49		0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54048724	54048724	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:54048724G>A	uc004dsu.3	-	3	615	c.369C>T	c.(367-369)ttC>ttT	p.F123F	PHF8_uc004dst.3_Silent_p.F87F|PHF8_uc004dsw.3_Silent_p.F87F|PHF8_uc004dsy.3_Silent_p.F87F	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	123					G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GCTCTCTGACGAACGTAGGGC	0.537000														44			59		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27350447	27350447	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:27350447G>A	uc003cdt.2	-	10	960	c.686C>T	c.(685-687)tCc>tTc	p.S229F		NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	229							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGCCAGAAGGGAACCCAATAG	0.333000														22			8		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566292	155566292	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:155566292G>A	uc002tyv.1	+	1	1075	c.880G>A	c.(880-882)Gag>Aag	p.E294K	KCNJ3_uc010zce.1_Intron|KCNJ3_uc021vrh.1_Missense_Mutation_p.E294K	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	294					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TGAACAGTTCGAGATTGTCGT	0.408000														67			17		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825532	4825532	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4825532G>A	uc021qcs.1	-	0	79	c.79C>T	c.(79-81)Cag>Tag	p.Q27*		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCACAACTGGAAACTCTCC	0.498000														43			13		0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52827674	52827674	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52827674C>T	uc001saj.2	-	0	437	c.415G>A	c.(415-417)Gac>Aac	p.D139N		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	139	Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		ATGGTGGGGTCGATTTGCAGG	0.592000														102			49		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174830	150174830	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150174830G>A	uc003whj.3	+	4	2290	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	654						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)		GTCCCAAGCCGAAAAACTCCT	0.463000														65			22		0	0	1	0	0
MECP2	4204	broad.mit.edu	37	X	153296314	153296314	+	Missense_Mutation	SNP	G	A	A	rs63749747		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:153296314G>A	uc004fjv.2	-	3	1191	c.965C>T	c.(964-966)cCc>cTc	p.P322L	MECP2_uc004fjw.2_Missense_Mutation_p.P334L	NM_004992	NP_004983	P51608	MECP2_HUMAN	Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA.	322			P -> A (in RTT).|P -> L (in RTT).|P -> S (in MRXS13).		negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCAGCAGGGGCTTCACCAC	0.597000														27			42		0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103326685	103326685	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:103326685T>A	uc001vpi.4	+	26	3488	c.3385T>A	c.(3385-3387)Tgt>Agt	p.C1129S		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	1129					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAGGAAAGGTTGTGCCCTGGC	0.433000														59			25		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31405603	31405603	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31405603G>A	uc010cap.1	+	1	127	c.78G>A	c.(76-78)acG>acA	p.T26T	ITGAD_uc010vfl.1_Silent_p.T26T|ITGAD_uc002ebv.1_Silent_p.T26T	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	26					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGAGCCTACGATCTTCCAGG	0.572000														48			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179414324	179414324	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179414324C>T	uc021vsy.1	-	286	84646	c.84421G>A	c.(84421-84423)Gat>Aat	p.D28141N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D21836N|TTN_uc021vta.1_Missense_Mutation_p.D21769N|TTN_uc021vtb.1_Missense_Mutation_p.D21644N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29068	Fibronectin type-III 105.						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)			ACCACTGGATCAGAATCAAGT	0.373000														99			25		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243490	56243490	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56243490G>A	uc002qly.3	-	1	1735	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	569						cytoplasm	ATP binding	p.F569F(2)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAATATAAATGAAAACTTCTT	0.343000														45			18		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288793	107288793	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107288793C>T	uc011lvn.2	-	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CTTGTGTCTTCCTGTGGCCGA	0.428000														117			55		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126732423	126732423	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:126732423C>T	uc003kuh.4	+	6	974	c.612C>T	c.(610-612)gaC>gaT	p.D204D	MEGF10_uc010jdc.1_Silent_p.D204D|MEGF10_uc010jdd.1_Silent_p.D204D|MEGF10_uc003kui.4_Silent_p.D204D	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	204	EGF-like 3.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CCACCTGCGACCACGTCACGG	0.637000														78			18		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439392	150439392	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150439392C>T	uc022apw.1	+	5	917	c.777C>T	c.(775-777)tcC>tcT	p.S259S	GIMAP1-GIMAP5_uc003whr.2_Silent_p.S55S	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		TGTTTGAGTCCAAGCTGAGGG	0.562000														62			27		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25281301	25281301	+	Silent	SNP	C	T	T	rs148902783		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25281301C>T	uc010aaa.3	+	15	2661	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F	ATP12A_uc001upp.3_Silent_p.F770F	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	770					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ACGACAACTTCGCATCCATCG	0.552000														49			19		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152768620	152768620	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:152768620G>A	uc021zhb.1	-	26	3865	c.3642C>T	c.(3640-3642)ttC>ttT	p.F1214F	SYNE1_uc003qot.4_Silent_p.F1221F|SYNE1_uc003qou.4_Silent_p.F1214F|SYNE1_uc010kjb.1_Silent_p.F1197F|SYNE1_uc003qow.3_Silent_p.F509F|SYNE1_uc003qox.1_Silent_p.F730F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1214					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.S1213F(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAAGAGCCTTGAAAGAGCTGG	0.453000										HNSCC(10;0.0054)				22			21		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41012789	41012789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41012789C>T	uc003jmj.4	-	29	3521	c.3031G>A	c.(3031-3033)Gaa>Aaa	p.E1011K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E566K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1011							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						TCCAGCATTTCCTCTAGGAAC	0.458000														81			25		0	0	1	0	0
SRD5A3	79644	broad.mit.edu	37	4	56225558	56225558	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:56225558C>T	uc003hau.3	+	1	383	c.267C>T	c.(265-267)ttC>ttT	p.F89F		NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	Homo sapiens steroid 5 alpha-reductase 3 (SRD5A3), mRNA.	89					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			GGAATGGCTTCCTGCTTTGGT	0.463000														250			59		0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692388	116692388	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:116692388C>T	uc001pps.1	-	2	490	c.386G>A	c.(385-387)cGa>cAa	p.R129Q		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ctgaagctctcgcaggttgtc	0.662000														12			3		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57918040	57918040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:57918040C>T	uc002aei.3	+	4	606	c.475C>T	c.(475-477)Cgt>Tgt	p.R159C	GCOM1_uc002aej.3_Missense_Mutation_p.R159C|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Intron|GCOM1_uc002aem.3_Missense_Mutation_p.R159C|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.R159C	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	159					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TGCCCTGGATCGTTTTAATGC	0.483000														43			23		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135140051	135140051	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135140051G>A	uc004cbk.3	-	25	7792	c.7609C>T	c.(7609-7611)Cag>Tag	p.Q2537*	SETX_uc004cbj.3_Nonsense_Mutation_p.Q2185*|SETX_uc010mzt.3_Nonsense_Mutation_p.Q2123*	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	2537					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CGTGGGTCCTGAAGTTGGTCA	0.502000														107			14		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430058	43430058	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43430058C>T	uc002ovl.4	-	5	1209	c.1107G>A	c.(1105-1107)ggG>ggA	p.G369G	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Silent_p.G248G	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	370	Ig-like C2-type 3.				female pregnancy	extracellular region							Prostate(69;0.00682)				GCTGAAACTTCCCATTAATTG	0.458000														298			94		0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42439523	42439523	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42439523C>T	uc001zoz.3	-	12	1310	c.1218G>A	c.(1216-1218)agG>agA	p.R406R	PLA2G4F_uc010bcq.3_5'Flank|PLA2G4F_uc001zoy.3_Silent_p.R38R|PLA2G4F_uc001zpa.3_Silent_p.R157R|PLA2G4F_uc010bcr.3_Silent_p.R157R|PLA2G4F_uc010bcs.3_Silent_p.R193R	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	406	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGGCTGGGTCCCTGTAGAGTG	0.632000														35			17		0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125805353	125805353	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:125805353C>T	uc001lhn.3	-	1	1110	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	CHST15_uc001lhm.3_Missense_Mutation_p.E126K|CHST15_uc010que.2_Missense_Mutation_p.E126K|CHST15_uc001lho.3_Missense_Mutation_p.E126K	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	126					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	p.E126K(2)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CTTGGGTTTTCGCTGTCCATC	0.438000														178			82		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9106080	9106080	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:9106080C>T	uc003brf.1	-	5	1348	c.672_splice	c.e5+1	p.K224_splice	SRGAP3_uc003brg.1_Splice_Site_p.K224_splice|SRGAP3_uc003bri.1_Splice_Site|SRGAP3_uc003brk.3_Splice_Site_p.K224_splice|SRGAP3_uc003brj.1_Splice_Site_p.K84_splice	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	224					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCCCACTCACCTTCTCCTTCA	0.607000			T	RAF1	pilocytic astrocytoma									69			26		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163393520	163393520	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:163393520G>A	uc002uch.2	-	2	607	c.378C>T	c.(376-378)atC>atT	p.I126I	KCNH7_uc002uci.3_Silent_p.I126I	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	126	PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CAAAATTAATGATGAACATCA	0.363000														139			61		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33589863	33589863	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33589863G>A	uc002xbi.2	+	43	6232	c.5915G>A	c.(5914-5916)cGg>cAg	p.R1972Q		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1930						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTGCGGGCACGGACCCGGGAC	0.647000											OREG0025884	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			14		0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910613	35910613	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35910613C>T	uc003jjt.1	-	2	265	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	CAPSL_uc003jju.1_Missense_Mutation_p.R57Q	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	57	EF-hand 1.					cytoplasm	calcium ion binding	p.R57Q(2)|p.R57*(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			ATCAAGGGTTCGATTATTATC	0.308000														49			15		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13735244	13735244	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13735244A>G	uc003jfd.2	-	67	11799	c.11757T>C	c.(11755-11757)atT>atC	p.I3919I	DNAH5_uc003jfc.2_Silent_p.I87I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3919					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)					ATTGACCTTTAATAAGAGTGA	0.413000									Kartagener syndrome					47			18		0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39125543	39125543	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:39125543C>T	uc003awg.3	+	10	1947	c.1793C>T	c.(1792-1794)cCc>cTc	p.P598L		NM_004286	NP_004277	O00178	GTPB1_HUMAN	Homo sapiens GTP binding protein 1 (GTPBP1), mRNA.	598					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					AAAAAGGGCCCCCTGACGAAA	0.607000														22			7		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228461637	228461637	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228461637C>A	uc009xez.1	+	17	5348	c.5304C>A	c.(5302-5304)gcC>gcA	p.A1768A	OBSCN_uc001hsn.3_Silent_p.A1768A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1768	Fibronectin type-III 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATGAGACAGCCAGCCAGGGGG	0.657000														12			4		0.00909568	0.00909856	1	1	0
EPB41L5	57669	broad.mit.edu	37	2	120903838	120903838	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:120903838C>T	uc002tmg.3	+	19	1957	c.1766C>T	c.(1765-1767)gCc>gTc	p.A589V	EPB41L5_uc010fll.3_Missense_Mutation_p.A589V|EPB41L5_uc010flm.3_Missense_Mutation_p.A393V	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	589						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CATAAAAATGCCAATGTTCAG	0.294000														28			14		0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151304099	151304099	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:151304099G>A	uc003lut.3	-	0	299	c.12C>T	c.(10-12)ttC>ttT	p.F4F	GLRA1_uc003lur.3_Silent_p.F4F|GLRA1_uc003lus.3_5'UTR	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	4					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAAGAGTATTGAAGCTGTACA	0.428000														139			34		0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160482654	160482654	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:160482654C>T	uc003qta.3	+	23	3530	c.3382C>T	c.(3382-3384)Ctc>Ttc	p.L1128F		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1128					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTGCAATCCTCTCCCTTACAT	0.493000														58			47		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56663310	56663310	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56663310C>T	uc010dcz.2	-	17	3058	c.2940G>A	c.(2938-2940)agG>agA	p.R980R	TEX14_uc002iwr.2_Silent_p.R974R|TEX14_uc002iws.2_Silent_p.R974R|TEX14_uc010dda.2_Silent_p.R754R	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	980						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTCTGGGCTCCTAATGGGGG	0.517000														121			58		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35763096	35763096	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:35763096G>A	uc011axy.2	+	12	1106	c.894_splice	c.e12-1	p.R298_splice	ARPP21_uc003cga.3_Splice_Site_p.R278_splice|ARPP21_uc003cgb.3_Splice_Site_p.R332_splice|ARPP21_uc003cgf.3_Splice_Site_p.R133_splice|ARPP21_uc003cgg.3_5'Flank	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	332						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TCGTACTCCAGGGGCAACAGA	0.527000														22			5		0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50823956	50823956	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50823956T>C	uc002pru.1	-	2	2359	c.2064A>G	c.(2062-2064)gaA>gaG	p.E688E	KCNC3_uc002prt.1_Silent_p.E324E	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	688					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GGCTCTTGTCTTCCGGGGACA	0.657000														39			12		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26695000	26695000	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:26695000C>T	uc001mra.2	-	13	1969	c.1656G>A	c.(1654-1656)aaG>aaA	p.K552K	SLC5A12_uc001mrb.2_Non-coding_Transcript	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	552					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GTGTTTTGTACTTCTTAGACC	0.383000														140			59		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201016711	201016711	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201016711C>T	uc001gvv.3	-	36	4712	c.4485G>A	c.(4483-4485)aaG>aaA	p.K1495K		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1495					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCAGATCTTCTTGATGATGG	0.527000														58			18		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688639	26688639	+	Missense_Mutation	SNP	C	T	T	rs151261975		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26688639C>T	uc003acb.3	+	1	558	c.362C>T	c.(361-363)tCg>tTg	p.S121L	SEZ6L_uc003acd.3_Missense_Mutation_p.S121L|SEZ6L_uc011akd.2_Missense_Mutation_p.S121L|SEZ6L_uc003ace.3_Missense_Mutation_p.S121L|SEZ6L_uc011akc.2_Missense_Mutation_p.S121L|SEZ6L_uc003acc.3_Missense_Mutation_p.S121L|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	121						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AAACTGCCTTCGCTCAAGCAG	0.652000														33			9		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57476410	57476410	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57476410C>T	uc009vzx.1	-	13	1946	c.1626G>A	c.(1624-1626)ggG>ggA	p.G542G	DAB1_uc001cyt.1_Silent_p.G540G|DAB1_uc001cyq.1_Silent_p.G540G|DAB1_uc001cyr.1_Silent_p.G456G|DAB1_uc009vzw.1_Silent_p.G524G|DAB1_uc001cys.1_Silent_p.G542G	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	575					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CACTGGGCTCCCCACTGGGCT	0.448000														129			12		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19483563	19483563	+	Missense_Mutation	SNP	G	A	A	rs142982513		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19483563G>A	uc002dgc.4	+	10	2685	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	TMC5_uc010vaq.2_Intron|TMC5_uc002dgb.4_Missense_Mutation_p.E646K|TMC5_uc010var.2_Missense_Mutation_p.E646K|TMC5_uc002dgd.1_Missense_Mutation_p.E400K|TMC5_uc002dge.4_Missense_Mutation_p.E400K|TMC5_uc002dgf.4_Missense_Mutation_p.E329K|TMC5_uc002dgg.4_Missense_Mutation_p.E287K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	646						integral to membrane		p.E400K(1)		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						GTACAACTTAGAGGTAACCAA	0.562000														39			21		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119953070	119953070	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:119953070C>T	uc010inb.3	+	3	3336	c.3140C>T	c.(3139-3141)tCc>tTc	p.S1047F	SYNPO2_uc010ina.3_Missense_Mutation_p.S1047F|SYNPO2_uc003icm.4_Missense_Mutation_p.S1047F|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Intron|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	1047						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTCAGTGCATCCCCAGTGCCT	0.532000														53			19		0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66482982	66482982	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:66482982C>T	uc003tvn.3	+	5	862	c.713C>T	c.(712-714)tCc>tTc	p.S238F	TYW1_uc010lai.3_Non-coding_Transcript	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	238					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AAGTTCATCTCCCAGCTGCAG	0.547000														32			19		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3440797	3440797	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3440797G>A	uc001akl.3	-	4	722	c.495C>T	c.(493-495)tgC>tgT	p.C165C	MEGF6_uc001akk.3_Silent_p.C60C	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	165	EGF-like 2; calcium-binding (Potential).					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TGTGGGTTCGGCATTCGTCCA	0.647000														49			18		0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9801402	9801402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:9801402C>T	uc003bst.3	-	8	963	c.778G>A	c.(778-780)Gac>Aac	p.D260N	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_Missense_Mutation_p.D34N|AX748417_uc003bsv.1_5'Flank	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	260	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TTCTCTGGGTCCTTCTCCATC	0.517000														159			78		0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57473361	57473361	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:57473361G>A	uc004dvc.3	+	9	1266	c.1117_splice	c.e9-1	p.E373_splice		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	373						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TCAATCTCAGGAACCTGTGAA	0.363000										HNSCC(52;0.14)				9			6		0	0	1	0	0
PRRT2	112476	broad.mit.edu	37	16	29824999	29824999	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:29824999C>T	uc002dud.2	+	1	925	c.624C>T	c.(622-624)tcC>tcT	p.S208S	BOLA2_uc010bzb.1_Intron|AK097472_uc002duc.1_5'Flank|PRRT2_uc002due.4_Silent_p.S208S|PRRT2_uc002duf.1_Silent_p.S208S|C16orf53_uc002dug.4_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	Homo sapiens proline-rich transmembrane protein 2 (PRRT2), transcript variant 1, mRNA.	208	Pro-rich.				response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						CAAAAAAATCCCCCCCAGCCA	0.622000														11			3		0	0	1	0	0
GALP	85569	broad.mit.edu	37	19	56696615	56696615	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56696615G>A	uc002qmo.1	+	5	409	c.327G>A	c.(325-327)aaG>aaA	p.K109K	GALP_uc010eti.2_3'UTR	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA.	109					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		AAATTCCCAAGGAGGAAGATG	0.448000														39			15		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61865750	61865750	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61865750G>A	uc001jky.3	-	27	3579	c.3241C>T	c.(3241-3243)Cga>Tga	p.R1081*	ANK3_uc001jkw.3_Nonsense_Mutation_p.R215*|ANK3_uc009xpa.3_Nonsense_Mutation_p.R215*|ANK3_uc001jkx.3_Nonsense_Mutation_p.R259*|ANK3_uc010qih.2_Nonsense_Mutation_p.R1082*|ANK3_uc001jkz.4_Nonsense_Mutation_p.R1075*|ANK3_uc001jla.1_Nonsense_Mutation_p.R147*|ANK3_uc001jlb.1_Nonsense_Mutation_p.R599*	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1081	ZU5.				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						TTTTCACTTCGAAGAACAATG	0.383000														62			14		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204981969	204981969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204981969G>A	uc010prc.2	+	25	3495	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	NFASC_uc001hbj.3_Missense_Mutation_p.E1156K|NFASC_uc010pra.2_Missense_Mutation_p.E1090K|NFASC_uc001hbi.3_Missense_Mutation_p.E1085K|NFASC_uc010prb.2_Missense_Mutation_p.E1105K|NFASC_uc001hbl.2_Missense_Mutation_p.E232K|NFASC_uc001hbm.2_Missense_Mutation_p.E179K|NFASC_uc009xbh.2_Silent_p.R10R|NFASC_uc001hbo.2_Silent_p.R31R			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	1263	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGACCCCAAGGAAGAGGATGG	0.542000														93			33		0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150955861	150955861	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:150955861C>T	uc001ewa.2	+	3	593	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_003568	NP_003559	O76027	ANXA9_HUMAN	Homo sapiens annexin A9 (ANXA9), mRNA.	41					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|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)			TCTTGAACTTCAGCGTGGACA	0.607000														17			7		0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121631514	121631514	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:121631514G>A	uc003idn.3	-	14	1928	c.1678C>T	c.(1678-1680)Ctg>Ttg	p.L560L	PRDM5_uc003ido.3_Silent_p.L529L|PRDM5_uc010ine.3_Missense_Mutation_p.P500L	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	560					histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCTCATCCAGGCCTCGCTTC	0.473000														35			17		0	0	1	0	0
CD27	939	broad.mit.edu	37	12	6554368	6554368	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6554368G>A	uc001qod.3	+	0	318	c.107G>A	c.(106-108)gGa>gAa	p.G36E	CD27-AS1_uc001qob.2_Intron|CD27-AS1_uc009zel.1_Intron	NM_001242	NP_001233	P26842	CD27_HUMAN	Homo sapiens CD27 molecule (CD27), mRNA.	36					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						TGGGCTCAGGGAAAGCTGTGC	0.602000														19			5		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2096748	2096748	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:2096748C>T	uc003zhc.3	+	19	3074	c.2975C>T	c.(2974-2976)tCt>tTt	p.S992F	SMARCA2_uc003zhd.3_Missense_Mutation_p.S992F|SMARCA2_uc010mha.3_Missense_Mutation_p.S925F	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	992					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ACAGATGGTTCTGAGAAAGAT	0.448000														99			13		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40652086	40652086	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:40652086G>A	uc002yxk.2	-	8	1215	c.920C>T	c.(919-921)tCc>tTc	p.S307F	BRWD1_uc021wjf.1_Missense_Mutation_p.S307F|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Missense_Mutation_p.S27F	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AAATTTTAAGGATTCTAAATC	0.328000														54			16		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177249620	177249620	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:177249620C>T	uc001glf.3	+	7	1620	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	FAM5B_uc001glg.3_Silent_p.F331F	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	436						extracellular region				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						CTGGCACTTTCCTGGAACAGA	0.577000														74			27		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2442268	2442268	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:2442268C>T	uc010qxl.2	-	2	468	c.459G>A	c.(457-459)gaG>gaA	p.E153E	TRPM5_uc001lwm.4_Silent_p.E153E|TRPM5_uc009ydn.3_Silent_p.E153E	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	153						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCACCTGGGCCTCCTCCAGAA	0.701000														1			3		0	0	1	0	0
FAM187B	148109	broad.mit.edu	37	19	35715768	35715768	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35715768G>A	uc002nyk.1	-	1	1115	c.1070C>T	c.(1069-1071)tCc>tTc	p.S357F		NM_152481	NP_689694	Q17R55	F187B_HUMAN	Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.	357						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CCTGCCCGGGGAAGGGTGGAT	0.677000														26			19		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50147111	50147111	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:50147111G>A	uc010njr.2	-	4	1058	c.1014C>T	c.(1012-1014)acC>acT	p.T338T		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	338					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGCAGTGCTGGGTCCGGTGGC	0.433000														13			21		0	0	1	0	0
STX5	6811	broad.mit.edu	37	11	62574950	62574950	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62574950G>A	uc001nvh.3	-	10	1216	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	NXF1_uc001nvf.1_5'Flank|NXF1_uc001nvg.1_5'Flank|NXF1_uc009yog.1_5'Flank|NXF1_uc010rmh.1_5'Flank|STX5_uc010rmj.2_3'UTR|STX5_uc010rmi.2_Silent_p.F257F	NM_003164	NP_003155	Q13190	STX5_HUMAN	Homo sapiens syntaxin 5 (STX5), transcript variant 1, mRNA.	353					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|SNARE complex|integral to membrane|nucleus	SNAP receptor activity|protein N-terminus binding			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TTCAAGCAAGGAAGACCACAA	0.527000														29			5		0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681549	55681549	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55681549C>T	uc010rir.2	-	0	510	c.510G>A	c.(508-510)ggG>ggA	p.G170G		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCTCATTAGACCCACAGAAGC	0.433000														118			15		0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201356012	201356012	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201356012C>T	uc001gwm.3	-	2	712	c.477G>A	c.(475-477)gaG>gaA	p.E159E	LAD1_uc009wzu.1_Silent_p.E181E	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	159						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCACCAAGCTCTCCTCCTCCA	0.587000														116			21		0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123932070	123932070	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:123932070G>A	uc004bkx.1	+	36	6283	c.6252G>A	c.(6250-6252)cgG>cgA	p.R2084R	CNTRL_uc004blb.1_Silent_p.R753R|CNTRL_uc010mvp.1_Silent_p.R34R	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	2084	Required for centrosome localization.|Sufficient for interaction with HOOK2.				G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGATCCAGCGGAGCCAGCTGG	0.468000														69			28		0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17246733	17246733	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:17246733C>T	uc011aby.1	+	23	3114	c.2897C>T	c.(2896-2898)tCc>tTc	p.S966F	USP25_uc002yjz.1_Missense_Mutation_p.S928F|USP25_uc010gla.1_Missense_Mutation_p.S291F|USP25_uc002yjy.1_Missense_Mutation_p.S896F	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	896					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TATATAGATTCCTTGCTGTTC	0.284000														51			26		0	0	1	0	0
PGAM2	5224	broad.mit.edu	37	7	44102378	44102378	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44102378C>T	uc003tjs.3	-	2	805	c.747G>A	c.(745-747)caG>caA	p.Q249Q		NM_000290	NP_000281	P15259	PGAM2_HUMAN	Homo sapiens phosphoglycerate mutase 2 (muscle) (PGAM2), mRNA.	249					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						TGGCCTTGCCCTGGGCAGCCA	0.617000														42			4		0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129873956	129873956	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:129873956G>A	uc003igp.2	-	13	1692	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	SCLT1_uc003ign.2_Nonsense_Mutation_p.R60*|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	396						centrosome		p.S395F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCTGTTAATCGAGAAATTTGT	0.259000														104			37		0	0	1	0	0
POP4	10775	broad.mit.edu	37	19	30099604	30099604	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:30099604C>T	uc002nsf.2	+	1	104	c.48C>T	c.(46-48)gaC>gaT	p.D16D	POP4_uc002nsg.2_Missense_Mutation_p.T10I	NM_006627	NP_006618	O95707	RPP29_HUMAN	Homo sapiens processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) (POP4), transcript variant 1, mRNA.	16					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	RNA binding|identical protein binding|ribonuclease P activity			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			AGGCGAATGACTCCGATGTCC	0.483000														127			11		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98744710	98744710	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:98744710C>T	uc002syo.3	+	5	975	c.711C>T	c.(709-711)tcC>tcT	p.S237S	VWA3B_uc010yvh.2_Silent_p.S87S|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Silent_p.S237S|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	237								p.E236K(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGATTGAATCCATTTACTACT	0.478000														125			45		0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182563248	182563248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:182563248C>T	uc003flb.3	+	8	964	c.707C>T	c.(706-708)cCt>cTt	p.P236L		NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	236					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTTCCTAGACCTCTGGGGCCG	0.333000														44			9		0	0	1	0	0
SIX1	6495	broad.mit.edu	37	14	61115508	61115508	+	Missense_Mutation	SNP	T	C	C	rs80356460		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:61115508T>C	uc001xfb.4	-	0	648	c.400A>G	c.(400-402)Aag>Gag	p.K134E		NM_005982	NP_005973	Q15475	SIX1_HUMAN	Homo sapiens SIX homeobox 1 (SIX1), mRNA.	134					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CCCCTCGACTTCTCCTTGAAG	0.662000														55			31		0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140055526	140055526	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140055526G>A	uc004clk.3	+	8	1546	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	GRIN1_uc004cli.1_Missense_Mutation_p.E81K|GRIN1_uc004clj.1_Missense_Mutation_p.E403K|GRIN1_uc004cln.3_Missense_Mutation_p.E427K|GRIN1_uc004clo.3_Missense_Mutation_p.E427K|GRIN1_uc004clm.3_Missense_Mutation_p.E406K|GRIN1_uc004cll.3_Missense_Mutation_p.E406K	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	406					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GATCCACCAGGAGCCCTTCGT	0.627000														48			14		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32289578	32289578	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:32289578C>T	uc011alu.2	+	38	4246	c.4044C>T	c.(4042-4044)gtC>gtT	p.V1348V	DEPDC5_uc011als.2_Silent_p.V1248V|DEPDC5_uc003als.3_Silent_p.V1317V|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.V1339V|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Silent_p.V766V|DEPDC5_uc003alw.3_Silent_p.V615V|DEPDC5_uc011alx.2_Silent_p.V165V|DEPDC5_uc010gwk.3_Silent_p.V343V|DEPDC5_uc011aly.2_Silent_p.V165V	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1317					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTGCCACTGTCCCAGAGCAGA	0.493000														55			26		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999578	46999578	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:46999578C>T	uc001jec.3	+	2	833	c.698C>T	c.(697-699)gCt>gTt	p.A233V	GPRIN2_uc021ppt.1_Missense_Mutation_p.A233V	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	233			A -> S (in dbSNP:rs11204659).							breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCCCCAGCTGCTCTACTCTGT	0.632000														48			5		0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44687287	44687287	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44687287C>T	uc003tln.3	+	3	605	c.446C>T	c.(445-447)cCc>cTc	p.P149L	OGDH_uc003tlm.3_Missense_Mutation_p.P149L|OGDH_uc011kbx.2_Intron|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Intron|OGDH_uc011kbz.2_5'UTR|OGDH_uc003tlo.1_5'UTR	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	149					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CAGCTGGACCCCCTGGGGATT	0.522000														53			26		0	0	1	0	0
CYBRD1	79901	broad.mit.edu	37	2	172409859	172409859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:172409859C>T	uc002ugy.4	+	2	596	c.406C>T	c.(406-408)Ctt>Ttt	p.L136F	CYBRD1_uc002ugz.4_Missense_Mutation_p.S66F	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	Homo sapiens cytochrome b reductase 1 (CYBRD1), transcript variant 1, mRNA.	136	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						TGTTTAGCTTCTTTCAGGTTT	0.328000														70			22		0	0	1	0	0
MYOG	4656	broad.mit.edu	37	1	203054976	203054976	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203054976C>T	uc001gzd.3	-	0	402	c.114G>A	c.(112-114)acG>acA	p.T38T		NM_002479	NP_002470	P15173	MYOG_HUMAN	Homo sapiens myogenin (myogenic factor 4) (MYOG), mRNA.	38					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						GGGTGAGCTCCGTCCGCTCGT	0.652000														48			20		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171254565	171254565	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171254565G>A	uc009wvz.3	+	8	1617	c.1481G>A	c.(1480-1482)cGa>cAa	p.R494Q	FMO1_uc010pme.2_Missense_Mutation_p.R431Q|FMO1_uc001ghl.3_Missense_Mutation_p.R494Q|FMO1_uc001ghm.3_Missense_Mutation_p.R494Q	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	494					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAGTGGGACCGAACATTCAAG	0.478000														37			46		0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49896972	49896972	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49896972C>T	uc003cxt.1	-	10	1478	c.1285G>A	c.(1285-1287)Gcc>Acc	p.A429T	TRAIP_uc003cxs.1_5'Flank|TRAIP_uc010hla.1_5'Flank|TRAIP_uc011bcx.2_5'Flank|CAMKV_uc011bcy.1_Missense_Mutation_p.A354T|CAMKV_uc003cxv.1_Missense_Mutation_p.A401T|CAMKV_uc003cxw.1_Missense_Mutation_p.A261T|CAMKV_uc003cxx.1_Missense_Mutation_p.A261T|CAMKV_uc003cxu.2_Missense_Mutation_p.A398T|CAMKV_uc011bcz.1_Missense_Mutation_p.A361T|CAMKV_uc011bda.1_Missense_Mutation_p.A355T	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	429	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCATCAGTGGCTGGAGTAGCG	0.632000														72			40		0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129642196	129642196	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:129642196C>T	uc022bnn.1	+	0	506	c.506C>T	c.(505-507)tCt>tTt	p.S169F	ZBTB34_uc004bqm.4_Missense_Mutation_p.S169F	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCATATTGCTCTCAGGGACGG	0.587000														57			38		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179453325	179453325	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179453325C>T	uc021vsy.1	-	252	55648	c.55423G>A	c.(55423-55425)Gaa>Aaa	p.E18475K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E12170K|TTN_uc021vta.1_Missense_Mutation_p.E12103K|TTN_uc021vtb.1_Missense_Mutation_p.E11978K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19402	Ig-like 106.						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)			ATTCCAATTTCATTTTCTGCC	0.448000														228			98		0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37211306	37211306	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:37211306C>T	uc010xtl.2	+	5	1902	c.1680C>T	c.(1678-1680)tcC>tcT	p.S560S	ZNF567_uc002oeo.1_Silent_p.S560S|ZNF567_uc010xtk.1_Silent_p.S560S|ZNF567_uc002oep.4_Silent_p.S529S|ZNF567_uc002oeq.1_Silent_p.S529S	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GCCAGAAATCCTATGAATGTC	0.413000														114			11		0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428761	120428761	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:120428761G>A	uc003vjk.3	-	7	1177	c.803C>T	c.(802-804)tCt>tTt	p.S268F	TSPAN12_uc010lkj.3_Missense_Mutation_p.S141F	NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	268					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					CAGGTGCTGAGAGTTGTCATT	0.453000														112			56		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208218435	208218435	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:208218435G>A	uc001hgz.3	-	18	4374	c.3616C>T	c.(3616-3618)Ctc>Ttc	p.L1206F		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1206	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGCCCGGTGAGGTTGGGAGGC	0.582000														59			23		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335885	57335885	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57335885G>A	uc002qnu.2	-	0	490	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.Q47*|PEG3_uc002qnv.2_Nonsense_Mutation_p.Q47*|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Nonsense_Mutation_p.Q47*	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	47	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CGAAACCTCTGATGAAAAAAC	0.502000														56			13		0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53223912	53223912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:53223912G>A	uc004drz.3	-	22	3980	c.3447C>T	c.(3445-3447)gcC>gcT	p.A1149A	KDM5C_uc022bxe.1_Silent_p.A1082A|KDM5C_uc004dsa.3_Silent_p.A1148A	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	1149					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCTCCTTGAAGGCCACGATCT	0.612000			"""N, F, S"""		clear cell renal carcinoma									12			10		0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281283	49281283	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:49281283C>T	uc010acw.1	+	1	620	c.330C>T	c.(328-330)gcC>gcT	p.A110A	CYSLTR2_uc010acx.1_Silent_p.A110A|CYSLTR2_uc010acy.1_Silent_p.A110A|CYSLTR2_uc010acz.1_Silent_p.A110A|CYSLTR2_uc010ada.1_Silent_p.A110A|CYSLTR2_uc010adb.1_Silent_p.A110A|CYSLTR2_uc010adc.1_Silent_p.A110A|CYSLTR2_uc010add.1_Silent_p.A110A|CYSLTR2_uc001vck.2_Silent_p.A110A|CYSLTR2_uc021rjl.1_Silent_p.A110A	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	110					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GAGACCTGGCCTGCAGGATTA	0.453000														71			46		0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	427062	427062	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:427062G>A	uc002cgu.4	-	3	739	c.610C>T	c.(610-612)Ctc>Ttc	p.L204F	TMEM8A_uc002cgv.4_Missense_Mutation_p.L11F	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	Homo sapiens transmembrane protein 8A (TMEM8A), mRNA.	204					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TGGGAGAGGAGGGTCTGAGGA	0.657000											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		47			10		0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37892456	37892456	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37892456C>T	uc003asx.1	-	13	2076	c.2059_splice	c.e13+1	p.A687_splice	CARD10_uc003ast.1_Splice_Site|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_Splice_Site_p.A5_splice|CARD10_uc003asw.1_Splice_Site_p.A401_splice|CARD10_uc003asy.1_Splice_Site_p.A687_splice	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	687					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CCAGACTTACCCTTCGAGTCC	0.642000														38			12		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027323	55027323	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:55027323G>A	uc002lgn.3	+	3	1315	c.958G>A	c.(958-960)Gga>Aga	p.G320R		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	320					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CCACTTGTATGGATTTTGGCC	0.423000														51			16		0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735093	41735093	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:41735093C>T	uc003azw.3	+	8	930	c.714C>T	c.(712-714)gcC>gcT	p.A238A		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	254					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACCTGCTGGCCCCCCTGGACA	0.667000														126			46		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39358846	39358846	+	Missense_Mutation	SNP	G	A	A	rs121434355		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:39358846G>A	uc001uwv.3	+	5	6229	c.5920G>A	c.(5920-5922)Gag>Aag	p.E1974K	FREM2_uc001uww.3_Missense_Mutation_p.E60K	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1974	Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTACGAGGAGGAGGAAACCTT	0.498000														59			35		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481610	140481610	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140481610C>T	uc003lio.3	+	0	1377	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	459	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.F459F(2)|p.F459S(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.602000														199			86		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412170	19412170	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19412170G>A	uc010tcj.1	-	0		c.33940C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TCACTGACCAGACATAATCAG	0.532000														120			15		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36330510	36330510	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36330510C>T	uc002oby.3	-	21	2972	c.2816_splice	c.e21-1	p.S939_splice	NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	939	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCAGGGCGGCCTATGGGGAGA	0.502000														70			17		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285643	223285643	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:223285643C>T	uc021pjl.1	-	0	731	c.731G>A	c.(730-732)gGa>gAa	p.G244E	TLR5_uc001hnv.2_Missense_Mutation_p.G244E|TLR5_uc001hnw.2_Missense_Mutation_p.G244E	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	244					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GCTAAAGTTTCCTGTGATGTC	0.468000														107			41		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371224	240371224	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240371224G>A	uc010pye.2	+	5	3349	c.3124G>A	c.(3124-3126)Gga>Aga	p.G1042R	FMN2_uc010pyd.2_Missense_Mutation_p.G1038R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1038	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCACTTCCCGGAGCGGGCAT	0.731000														47			12		0	0	1	0	0
FAM53B	9679	broad.mit.edu	37	10	126370409	126370409	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:126370409G>A	uc001lhv.1	-	3	1196	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	FAM53B_uc001lhu.1_Silent_p.L225L|FAM53B_uc001lhw.3_Silent_p.L225L	NM_014661	NP_055476	Q14153	FA53B_HUMAN	Homo sapiens family with sequence similarity 53, member B (FAM53B), mRNA.	225										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GACCGCTGCAGGTCCAGCCGG	0.642000														14			5		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263760	39263760	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:39263760C>T	uc001uwv.3	+	0	2588	c.2279C>T	c.(2278-2280)aCc>aTc	p.T760I		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	760					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCACTGGGTACCTTGGTCTTG	0.527000														69			21		0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209961966	209961966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:209961966C>T	uc001hhq.2	-	8	1507	c.1203G>A	c.(1201-1203)atG>atA	p.M401I	IRF6_uc010psm.2_Missense_Mutation_p.M306I	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	401					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R400R(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCTCGTAGATCATCCGAGCCA	0.453000										HNSCC(57;0.16)				22			4		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203125	56203125	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:56203125C>T	uc002lhj.4	-	4	4508	c.4294G>A	c.(4294-4296)Gaa>Aaa	p.E1432K	ALPK2_uc002lhk.1_Missense_Mutation_p.E763K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1432							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGACCCCCTTCTCTGGCGCCC	0.512000														91			17		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43819408	43819408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43819408G>A	uc001zrt.3	+	3	6204	c.5737G>A	c.(5737-5739)Gaa>Aaa	p.E1913K		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1913						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCGCAAGGCTGAAGGGGAAAG	0.597000														71			21		0	0	1	0	0
RPUSD2	27079	broad.mit.edu	37	15	40866204	40866204	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40866204C>T	uc001zmd.1	+	2	1382	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	RPUSD2_uc021sjh.1_Missense_Mutation_p.A400V	NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 2 (RPUSD2), mRNA.	461	Poly-Ala.				pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		GCTGCAGCTGCCCAGAAGATG	0.552000														89			29		0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110249798	110249798	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:110249798G>A	uc004bdh.3	-	2	1471	c.850C>T	c.(850-852)Cct>Tct	p.P284S	KLF4_uc004bdf.2_Missense_Mutation_p.P243S|KLF4_uc022blk.1_Intron|KLF4_uc004bdg.3_Missense_Mutation_p.P293S	NM_004235	NP_004226	O43474	KLF4_HUMAN	Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.	293	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						TTGCTGAGAGGGGGTCCAGCG	0.701000														17			4		0	0	1	0	0
DHDH	27294	broad.mit.edu	37	19	49442727	49442727	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49442727C>T	uc002ple.1	+	3	428	c.388C>T	c.(388-390)Cct>Tct	p.P130S		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	Homo sapiens dihydrodiol dehydrogenase (dimeric) (DHDH), mRNA.	130					carbohydrate metabolic process		D-xylose 1-dehydrogenase (NADP+) activity|NAD(P)+ transhydrogenase activity|binding|electron carrier activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		CCGCTTCTTTCCTGCCTCCGA	0.567000														101			59		0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	318966	318966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:318966G>A	uc001qhz.3	-	3	851	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	SLC6A12_uc001qia.3_Missense_Mutation_p.P63S|SLC6A12_uc001qib.3_Missense_Mutation_p.P63S|SLC6A12_uc009zdh.2_Missense_Mutation_p.P63S|SLC6A12_uc009zdi.1_Intron	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	63					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)			CAGAGATAGGGAAACCTCCAG	0.577000														138			33		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240774	126240774	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126240774G>A	uc003ifj.4	+	0	3208	c.3208G>A	c.(3208-3210)Gtt>Att	p.V1070I		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1070	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTTTTAATGGTTGTTGCTTC	0.373000														172			68		0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41759219	41759219	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:41759219C>T	uc003ckv.4	-	23	2656	c.2455_splice	c.e23+1	p.G819_splice		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	819							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTCCAATTTACCCAGGATTCG	0.453000														68			19		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48685383	48685383	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48685383G>A	uc003cuf.1	-	21	7230	c.7230C>T	c.(7228-7230)gcC>gcT	p.A2410A	CELSR3_uc010hkg.3_Silent_p.A323A|CELSR3_uc003cul.3_Silent_p.A2340A	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2340					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTAGCGACGGGCCCCCCGGG	0.632000														150			43		0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38296443	38296443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:38296443C>T	uc001wuj.3	+	11	1462	c.1360C>T	c.(1360-1362)Cat>Tat	p.H454Y	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.H357Y|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TGGGGTGATTCATGAGTTTAT	0.363000														81			38		0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145038021	145038021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:145038021G>A	uc003ijo.4	-	4	459	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Missense_Mutation_p.R82C|GYPA_uc003ijp.4_Missense_Mutation_p.R83C|GYPA_uc010ioq.3_Missense_Mutation_p.R102C|GYPA_uc010ior.3_Missense_Mutation_p.R50C|GYPA_uc010ios.1_Non-coding_Transcript	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	115					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					ATCAGTCGGCGAATACCGTAA	0.368000														97			41		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15376433	15376433	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15376433G>A	uc002nar.3	-	4	803	c.581C>T	c.(580-582)tCc>tTc	p.S194F	BRD4_uc002nas.3_Missense_Mutation_p.S194F|BRD4_uc002nat.3_Missense_Mutation_p.S194F|BRD4_uc002nau.4_Missense_Mutation_p.S194F	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	194					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGGTACCGTGGAAACGCCAGG	0.567000			T	C15orf55	lethal midline carcinoma of young people									178			69		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236902625	236902625	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:236902625G>A	uc001hyf.2	+	9	1104	c.900G>A	c.(898-900)acG>acA	p.T300T	ACTN2_uc001hyg.2_Silent_p.T92T|ACTN2_uc009xgi.1_Silent_p.T300T|ACTN2_uc010pxu.1_Intron	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	300					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding	p.T300T(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TTCGTCGCACGATCCCCTGGC	0.532000														141			61		0	0	1	0	0
CD8B	926	broad.mit.edu	37	2	87085384	87085384	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:87085384G>A	uc002srw.3	-	1	258	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_Missense_Mutation_p.H67Y|CD8B_uc002sry.3_Missense_Mutation_p.H67Y|CD8B_uc010fgt.3_Missense_Mutation_p.H67Y|CD8B_uc002srz.3_Missense_Mutation_p.H67Y|CD8B_uc010yto.2_Missense_Mutation_p.H67Y	NM_172213	NP_757362	P10966	CD8B_HUMAN	Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA.	67	Ig-like V-type.				T cell activation|immune response|regulation of defense response to virus by virus|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	T cell receptor complex|early endosome|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						AGGAACTCGTGGTGACTGTCA	0.547000														89			7		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088099	86088099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:86088099C>T	uc021rxf.1	+	0	241	c.241C>T	c.(241-243)Cct>Tct	p.P81S	FLRT2_uc001xvr.3_Missense_Mutation_p.P81S|FLRT2_uc010atd.3_Missense_Mutation_p.P81S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	81					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGCTGGATTTCCTGCAGAACT	0.488000														84			29		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229706	21229706	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21229706G>A	uc002red.3	-	25	10162	c.10034C>T	c.(10033-10035)tCa>tTa	p.S3345L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3345					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATGACACTTGATTTAAAGGA	0.368000														136			42		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94100891	94100891	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94100891G>A	uc001ybv.1	+	29	5359	c.5276G>A	c.(5275-5277)gGa>gAa	p.G1759E	UNC79_uc001ybs.1_Missense_Mutation_p.G1737E	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1914						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						ATGAAAAGGGGATCCCTGGGA	0.468000														78			31		0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111342415	111342415	+	Missense_Mutation	SNP	G	A	A	rs138877502		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:111342415G>A	uc001trv.1	+	10	1561	c.1366G>A	c.(1366-1368)Gac>Aac	p.D456N	CCDC63_uc010sye.1_Missense_Mutation_p.D416N|CCDC63_uc001trw.1_Missense_Mutation_p.D371N	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	456								p.D456N(2)|p.N455K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GAAGACCAACGACCTGCTGCT	0.597000														90			32		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157562	22157562	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22157562C>T	uc021urr.1	-	3	423	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	ZNF208_uc002nqo.1_Missense_Mutation_p.E92K	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)				AAAGAATCTTCTATGCCCTGC	0.318000														41			19		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106518487	106518487	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106518487G>A	uc021ser.1	-	2195		c.39466C>T								Parts of antibodies, mostly variable regions.																		CTCTGGAGATGGTGAATCGGC	0.542000														281			126		0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609298	32609298	+	Silent	SNP	C	T	T	rs36219014		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32609298C>T	uc003obr.3	+	1	347	c.294C>T	c.(292-294)atC>atT	p.I98I	HLA-DQA1_uc003obs.3_Non-coding_Transcript|HLA-DQA1_uc003obt.1_Silent_p.I98I|HLA-DQA1_uc003obu.3_5'Flank|HLA-DQA1_uc021yvy.1_5'Flank	NM_002122	NP_002113	P01909	DQA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA.	97	Alpha-1.		L -> M (in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06 and allele DQA1*01:07).|L -> V (in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03).		T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						ACTTGAACATCATGATTAAAC	0.478000														23			44		0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366642	248366642	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248366642C>T	uc010pzg.2	+	0	273	c.273C>T	c.(271-273)tcC>tcT	p.S91S		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S91S(2)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAGCAAGTCCATTTCTATGG	0.498000														394			156		0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595350	44595350	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44595350G>A	uc001clp.3	+	1	465	c.407G>A	c.(406-408)gGa>gAa	p.G136E	KLF17_uc009vxf.1_Missense_Mutation_p.G99E	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	136					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					ATGCCCGTAGGAGAGCCCAAT	0.542000														58			36		0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31483684	31483684	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:31483684T>A	uc002rnu.3	+	3	1419	c.811T>A	c.(811-813)Ttt>Att	p.F271I	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	271					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCGGAAGCTCTTTGAGGCTGA	0.592000														107			28		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50813007	50813008	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50813007_50813008CC>TT	uc010enu.1	+	42	6118_6119	c.6071_6072CC>TT	c.(6070-6072)tcc>tTT	p.S2024F	MYH14_uc002prq.1_Missense_Mutation_p.S1991F|MYH14_uc002prr.1_Missense_Mutation_p.S1983F|MYH14_uc010ycb.2_Missense_Mutation_p.S334F|MYH14_uc002prs.1_Missense_Mutation_p.S334F	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1983					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCTGGGCCATCCCCGGAGCCTG	0.683000														5			5		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110456078	110456078	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110456078G>A	uc003yne.3	+	36	4842	c.4738G>A	c.(4738-4740)Gaa>Aaa	p.E1580K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1580	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			AACAGTAAATGAACTAATAAC	0.328000										HNSCC(38;0.096)				64			49		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51387787	51387787	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:51387787C>T	uc011bds.2	+	39	4094	c.4071C>T	c.(4069-4071)gtC>gtT	p.V1357V		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1357	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCTTTCGGGTCGGCTTCTATG	0.438000														115			49		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51261219	51261219	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:51261219G>A	uc003tps.3	-	2	498	c.313C>T	c.(313-315)Ctt>Ttt	p.L105F	COBL_uc003tpr.4_Missense_Mutation_p.L105F|COBL_uc011kcl.2_Missense_Mutation_p.L105F|COBL_uc010kzc.3_Missense_Mutation_p.L105F|COBL_uc003tpt.3_Missense_Mutation_p.L105F|COBL_uc003tpp.4_5'Flank|COBL_uc003tpq.4_Missense_Mutation_p.L21F	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	105										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CGAATTTCAAGGGCATGGTGG	0.408000														82			6		0	0	1	0	0
SDSL	113675	broad.mit.edu	37	12	113875773	113875773	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113875773C>T	uc001tvi.3	+	8	1086	c.879C>T	c.(877-879)gcC>gcT	p.A293A	SDSL_uc009zwh.3_Silent_p.A293A	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN	Homo sapiens serine dehydratase-like (SDSL), mRNA.	293					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	GGCTCCAGGCCGAGGGCTGCC	0.607000														253			70		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22447294	22447294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22447294C>T	uc010tmm.2	+	1	467	c.275C>T	c.(274-276)tCc>tTc	p.S92F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Non-coding_Transcript					Homo sapiens mRNA for unknown variable region, clone: SEB 74.																		AGTCAAACTTCCTTCCACTTG	0.483000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		81			23		0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476457	17476457	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17476457C>T	uc002ngk.1	-	2	857	c.817G>A	c.(817-819)Gac>Aac	p.D273N		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	273						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCATGTGGTCGCAGGCTCTG	0.637000														59			14		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427318	135427318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:135427318C>T	uc004ezu.1	+	5	1744	c.1453C>T	c.(1453-1455)Cct>Tct	p.P485S	GPR112_uc010nsb.1_Missense_Mutation_p.P280S|GPR112_uc010nsc.1_Missense_Mutation_p.P252S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	485					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCTGTATTTCCTAGAAACCA	0.448000														40			28		0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76046247	76046247	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76046247C>T	uc002jud.2	+	3	1704	c.1104C>T	c.(1102-1104)gtC>gtT	p.V368V	TNRC6C_uc002juf.2_Silent_p.V368V|TNRC6C_uc002jue.2_Silent_p.V368V	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	368	Gly-rich.|Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GTCCTAGTGTCACCAGCCAGA	0.527000														61			19		0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152883916	152883916	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152883916C>T	uc021ozl.1	+	0	1643	c.1643C>T	c.(1642-1644)gCt>gTt	p.A548V	IVL_uc001fau.3_Missense_Mutation_p.A548V	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	548					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTTGCCCCAGCTCCAGGCCAG	0.592000														42			16		0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750359	142750359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142750359G>A	uc011ksv.2	+	0	922	c.922G>A	c.(922-924)Ggc>Agc	p.G308S		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GAGGCTGAAAGGCCTTTGCAA	0.542000														20			10		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55285069	55285069	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55285069G>A	uc010erz.1	+	2	393	c.355G>A	c.(355-357)Gac>Aac	p.D119N	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.D119N	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	119					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TGACCCTCTGGACATCGTGAT	0.522000														297			106		0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43054643	43054643	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:43054643C>T	uc003xpx.4	+	17	1887	c.1839C>T	c.(1837-1839)atC>atT	p.I613I		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	641					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CTCAGAACATCGTCGCCACTG	0.498000														22			8		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54914527	54914527	+	Missense_Mutation	SNP	C	T	T	rs141439711	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54914527C>T	uc021smr.1	+	28	6103	c.6103C>T	c.(6103-6105)Cgt>Tgt	p.R2035C	UNC13C_uc021sms.1_Missense_Mutation_p.R2037C|UNC13C_uc002acm.3_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2037					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.Q2035P(1)		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)		ATTTTCAGGTCGTTCCTCCAA	0.398000														61			28		0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165383593	165383593	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:165383593C>T	uc002ucl.3	-	3	1075	c.534G>A	c.(532-534)ggG>ggA	p.G178G	GRB14_uc010zcv.2_Silent_p.G91G	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	178	Ras-associating.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CTTCTTCTATCCCCCAGTTGG	0.328000														74			28		0	0	1	0	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864206	31864206	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:31864206C>T	uc002yog.1	-	0	70	c.70G>A	c.(70-72)Ggc>Agc	p.G24S		NM_181609	NP_853640	Q7Z4W3	KR193_HUMAN	Homo sapiens keratin associated protein 19-3 (KRTAP19-3), mRNA.	24						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						CAGCCATAGCCATAGCCCAGG	0.572000														225			81		0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24858320	24858320	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:24858320G>A	uc001upd.2	+	6	2790	c.2212G>A	c.(2212-2214)Ggt>Agt	p.G738S	SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Missense_Mutation_p.G738S|SPATA13_uc001upg.2_Missense_Mutation_p.G113S|SPATA13_uc010tcy.1_Missense_Mutation_p.G59S|SPATA13_uc010tcz.2_Missense_Mutation_p.G59S|SPATA13_uc010tdb.2_Missense_Mutation_p.G35S|SPATA13_uc010tda.2_Missense_Mutation_p.G57S|SPATA13_uc001uph.3_Missense_Mutation_p.G35S	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	113					cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GGATGACAACGgtagtgagga	0.493000														30			17		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377997	113377997	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:113377997G>A	uc003eam.3	-	6	2943	c.2532C>T	c.(2530-2532)ttC>ttT	p.F844F	KIAA2018_uc003eal.3_Silent_p.F788F	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	844					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ACACAGCAGGGAAGCTTTCTA	0.473000														50			18		0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33289581	33289581	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33289581G>A	uc003oec.3	-	1	326	c.122C>T	c.(121-123)tCc>tTc	p.S41F	DAXX_uc021ywn.1_Missense_Mutation_p.S41F|DAXX_uc021ywo.1_Missense_Mutation_p.S41F|DAXX_uc011dre.2_Missense_Mutation_p.S53F|DAXX_uc003oed.3_Missense_Mutation_p.S41F|DAXX_uc011drd.2_Intron|DAXX_uc010juw.2_5'UTR	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	41	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGGCTCAGAGGAGCTAGGGGC	0.587000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									224			116		0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6422908	6422908	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6422908G>A	uc001qnr.3	+	2	400	c.252G>A	c.(250-252)ggG>ggA	p.G84G	PLEKHG6_uc001qns.3_Silent_p.G84G|PLEKHG6_uc010sew.2_Silent_p.G84G|PLEKHG6_uc010sex.2_Silent_p.G52G	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	84					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AGAGGCACGGGGGCCATGTGG	0.642000														61			7		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1507763	1507763	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1507763C>T	uc002qwr.3	+	13	2516	c.2430C>T	c.(2428-2430)gcC>gcT	p.A810A	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.A810A|TPO_uc002qwx.3_Silent_p.A753A|TPO_uc002qwu.3_Silent_p.A753A|TPO_uc010yio.2_Silent_p.A637A|TPO_uc010yip.2_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	810	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCTGCCACGCCTCTGCGAGGT	0.627000														43			21		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48286115	48286115	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:48286115C>T	uc010rht.2	+	0	703	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GCACAAGGCCCTCTCCACCTG	0.537000														40			44		0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238725807	238725807	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:238725807C>T	uc002vxi.4	+	2	380	c.248C>T	c.(247-249)tCa>tTa	p.S83L		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	82							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CCATTTTTTTCAGTGAGTCAA	0.333000														61			28		0	0	1	0	0
BIRC2	329	broad.mit.edu	37	11	102221052	102221052	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102221052T>A	uc001pgy.3	+	1	1866	c.467T>A	c.(466-468)cTt>cAt	p.L156H	BIRC2_uc010ruq.2_Missense_Mutation_p.L107H|BIRC2_uc010rur.2_Missense_Mutation_p.L156H	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	Homo sapiens baculoviral IAP repeat containing 2 (BIRC2), mRNA.	156					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TACTCCAGCCTTTCTCCAAAC	0.418000														150			32		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157669500	157669500	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157669500G>A	uc001fqz.4	-	2	326	c.34C>T	c.(34-36)Cct>Tct	p.P12S	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'Flank|FCRL3_uc001frb.3_Missense_Mutation_p.P12S|FCRL3_uc001frc.1_Missense_Mutation_p.P12S	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	12						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTCTTCCAGGAGCTGTGAGG	0.468000														25			11		0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71153328	71153328	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:71153328C>T	uc001oqk.3	-	4	643	c.393G>A	c.(391-393)gaG>gaA	p.E131E	DHCR7_uc001oql.3_Silent_p.E131E	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	131					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	TCACGGCCCCCTCCTGGATGC	0.602000									Smith-Lemli-Opitz syndrome					11			5		0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19178917	19178917	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:19178917G>A	uc021wle.1	-	26	4297	c.4222C>T	c.(4222-4224)Ctg>Ttg	p.L1408L	CLTCL1_uc021wld.1_3'UTR|CLTCL1_uc021wlc.1_3'UTR|CLTCL1_uc021wlf.1_Silent_p.L1408L|CLTCL1_uc011agw.1_Silent_p.L1387L|CLTCL1_uc011agt.2_Silent_p.L199L|CLTCL1_uc011agu.2_Silent_p.L199L	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1408	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TAGAACTGCAGGGCTCTGTAA	0.532000			T	?	ALCL									74			40		0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118621455	118621455	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:118621455G>A	uc003ebw.3	-	6	1455	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	IGSF11_uc011biv.2_Missense_Mutation_p.S375F|IGSF11_uc003ebx.3_Missense_Mutation_p.S379F|IGSF11_uc003eby.3_Missense_Mutation_p.S402F|IGSF11_uc003ebz.3_Missense_Mutation_p.S378F|IGSF11_uc010hqs.3_Missense_Mutation_p.S402F	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	Homo sapiens immunoglobulin superfamily, member 11 (IGSF11), transcript variant 2, mRNA.	403					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GATGGTGTAGGAATGAGTGTG	0.547000														89			37		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177249597	177249597	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:177249597G>A	uc001glf.3	+	7	1597	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	FAM5B_uc001glg.3_Missense_Mutation_p.E324K	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	429						extracellular region				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						CTACTGTGGGGAAAGCACCTT	0.542000														81			32		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38988326	38988326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38988326G>A	uc021wvy.1	-	1	539	c.340C>T	c.(340-342)Cct>Tct	p.P114S		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	114					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GAATTGAAAGGCCCAAAAATG	0.373000														84			36		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128496919	128496919	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128496919C>T	uc003vnz.4	+	44	7714	c.7505C>T	c.(7504-7506)gCt>gTt	p.A2502V	FLNC_uc003voa.4_Missense_Mutation_p.A2469V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2502	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAGAGCCAGGCTGGGGACCCA	0.627000														43			8		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017372	93017372	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:93017372C>T	uc022axs.1	-	5	1076	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	RUNX1T1_uc003yfc.2_Missense_Mutation_p.E211K|RUNX1T1_uc010mam.3_Missense_Mutation_p.E211K|RUNX1T1_uc003yfe.2_Missense_Mutation_p.E201K|RUNX1T1_uc003yfd.3_Missense_Mutation_p.E238K|RUNX1T1_uc022axo.1_Missense_Mutation_p.E238K|RUNX1T1_uc010mao.3_Missense_Mutation_p.E211K|RUNX1T1_uc011lgi.2_Missense_Mutation_p.E249K|RUNX1T1_uc022axp.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axq.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axr.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axt.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axu.1_Missense_Mutation_p.E218K|RUNX1T1_uc022axv.1_Missense_Mutation_p.E238K|RUNX1T1_uc003yfb.2_Missense_Mutation_p.E201K|RUNX1T1_uc003yff.1_Missense_Mutation_p.E201K	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	238	Poly-Pro.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E238K(1)|p.E201K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCCCGTTTTCGTTCACATCG	0.542000														127			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596633	179596633	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179596633G>A	uc021vsy.1	-	54	13462	c.13237C>T	c.(13237-13239)Ctg>Ttg	p.L4413L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L1074L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5340	Ig-like 24.						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)			ACCTCAGCCAGCAACATGACA	0.403000														103			28		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104044282	104044282	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:104044282T>C	uc001tjw.3	+	10	1369	c.1183T>C	c.(1183-1185)Tat>Cat	p.Y395H		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	395	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGACAAAGCTTATGCCTGGCC	0.458000														44			14		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107811990	107811990	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:107811990G>A	uc022ccg.1	+	6	524	c.322_splice	c.e6-1	p.G108_splice	COL4A5_uc004enz.1_Splice_Site_p.G108_splice	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	108	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTTCAAAGGGAATGCCAGGC	0.423000									Alport syndrome with Diffuse Leiomyomatosis					78			17		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179609144	179609144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179609144G>A	uc010pnp.2	+	9	2209	c.1691G>A	c.(1690-1692)gGa>gAa	p.G564E	TDRD5_uc021pfm.1_Missense_Mutation_p.G564E|TDRD5_uc001gnf.2_Missense_Mutation_p.G564E|TDRD5_uc021pfn.1_Missense_Mutation_p.G564E|TDRD5_uc001gnh.2_Missense_Mutation_p.G119E	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	564	Tudor.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CCAGACTTTGGAAATATTGGA	0.393000														170			62		0	0	1	0	0
C19orf21	126353	broad.mit.edu	37	19	757886	757886	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:757886C>T	uc002lpo.3	+	1	1023	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	314										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGGGCTTCGGCAGGCAAC	0.687000														24			15		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161318012	161318012	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:161318012C>T	uc010jiw.3	+	8	1280	c.812C>T	c.(811-813)tCc>tTc	p.S271F	GABRA1_uc010jix.3_Missense_Mutation_p.S271F|GABRA1_uc010jiy.3_Missense_Mutation_p.S271F|GABRA1_uc003lyx.4_Missense_Mutation_p.S271F|GABRA1_uc010jiz.3_Missense_Mutation_p.S271F|GABRA1_uc010jja.3_Missense_Mutation_p.S271F|GABRA1_uc010jjb.3_Missense_Mutation_p.S271F	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	271					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TCACAAGTCTCCTTCTGGCTC	0.413000														80			20		0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40719516	40719516	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40719516C>T	uc002ona.3	+	8	2218	c.1930C>T	c.(1930-1932)Ccc>Tcc	p.P644S		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	644					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCCTGCCGAGCCCTccccggg	0.761000														26			6		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57931689	57931689	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:57931689C>T	uc002aei.3	+	9	1196	c.1065C>T	c.(1063-1065)caC>caT	p.H355H	GCOM1_uc002aej.3_Silent_p.H355H|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Silent_p.H355H|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Silent_p.H355H	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	355					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GGATCAGACACCTAGATGACA	0.498000														47			8		0	0	1	0	0
DBNDD2	55861	broad.mit.edu	37	20	44037095	44037095	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44037095C>T	uc002xof.3	+	0	467	c.294C>T	c.(292-294)ccC>ccT	p.P98P	DBNDD2_uc002xnx.3_Intron|DBNDD2_uc021wei.1_Intron|DBNDD2_uc002xnz.3_Intron|DBNDD2_uc002xoa.3_Intron|DBNDD2_uc021wej.1_Intron|DBNDD2_uc002xob.3_Silent_p.P94P|DBNDD2_uc002xoc.3_Intron|DBNDD2_uc002xod.3_Intron|DBNDD2_uc002xog.3_Silent_p.P98P	NM_001048225	NP_001041690	Q9BQY9	DBND2_HUMAN	Homo sapiens dysbindin (dystrobrevin binding protein 1) domain containing 2 (DBNDD2), transcript variant 5, mRNA.	94					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CTCCTCTACCCGCAGGAGCTG	0.602000														120			12		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11780534	11780534	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:11780534C>T	uc002rbk.1	+	32	6104	c.5804C>T	c.(5803-5805)gCc>gTc	p.A1935V	GREB1_uc002rbp.1_Missense_Mutation_p.A933V	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1935						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACCGCCAATGCCAGGGAAGAC	0.602000														126			21		0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62943454	62943454	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:62943454C>A	uc001sre.3	+	22	3151	c.2760C>A	c.(2758-2760)tcC>tcA	p.S920S	MON2_uc010ssn.2_Silent_p.S920S|MON2_uc009zqj.3_Silent_p.S920S|MON2_uc010ssl.2_Silent_p.S848S|MON2_uc010ssm.2_Silent_p.S897S|MON2_uc001srf.3_Silent_p.S683S	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	921					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TCAGAGAATCCTTGATACGAA	0.378000														103			14		1.15088e-07	1.15376e-07	1	1	0
ABHD15	116236	broad.mit.edu	37	17	27889807	27889807	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:27889807G>A	uc002hed.2	-	1	1237	c.1179C>T	c.(1177-1179)ggC>ggT	p.G393G		NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA.	393						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGCGCAGGAAGCCACAGTGGC	0.592000														34			28		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825473	26825473	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:26825473G>A	uc001zbb.3	-	6	946	c.843C>T	c.(841-843)ttC>ttT	p.F281F	GABRB3_uc021sgg.1_Silent_p.F154F|GABRB3_uc021sgh.1_Silent_p.F140F|GABRB3_uc001zaz.3_Silent_p.F225F|GABRB3_uc001zba.3_Silent_p.F225F	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	225					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CACCTGTGGCGAAGACAACAT	0.572000														63			31		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770514	31770514	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:31770514G>A	uc002nsy.4	-	1	250	c.185C>T	c.(184-186)tCc>tTc	p.S62F		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	62					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCGGCCGGGGAGTTCTGGTA	0.587000														14			15		0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178423749	178423749	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:178423749C>T	uc001glq.3	+	11	2941	c.2177C>T	c.(2176-2178)tCc>tTc	p.S726F	RASAL2_uc001glr.3_Missense_Mutation_p.S578F|RASAL2_uc009wxc.3_Missense_Mutation_p.S92F	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	578					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GTTTTGCATTCCTTACTGTGG	0.413000														93			23		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202010	140202010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140202010G>A	uc003lhl.2	+	0	650	c.650G>A	c.(649-651)gGa>gAa	p.G217E	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_uc003lhk.1_Missense_Mutation_p.G217E|PCDHAC2_uc003lhj.1_Missense_Mutation_p.G217E	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	233	Cadherin 2.				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)			ACTGATGGAGGAAAACCCGAA	0.358000														125			46		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38412636	38412636	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38412636C>T	uc003jlc.2	+	10	1726	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	EGFLAM_uc003jlb.2_Silent_p.I460I|EGFLAM_uc003jle.2_Silent_p.I226I|EGFLAM_uc003jlf.2_5'UTR	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	460	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTGCCATCATCGTAAGTGAGA	0.488000														83			44		0	0	1	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106054664	106054664	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106054664G>A	uc001yrt.3	-	1	118	c.87C>T	c.(85-87)gtC>gtT	p.V29V	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		GGCATGCGACGACCACGTTCC	0.637000														46			20		0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99367785	99367785	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99367785G>A	uc003urv.2	-	4	499	c.392C>T	c.(391-393)tCa>tTa	p.S131L	CYP3A4_uc003urw.2_Missense_Mutation_p.S131L|CYP3A4_uc011kiz.2_Intron	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	131					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AGACAGCAATGATCGTAATCT	0.388000														101			37		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14799050	14799050	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:14799050C>T	uc003byy.3	+	12	2565	c.2113C>T	c.(2113-2115)Cga>Tga	p.R705*	C3orf20_uc003byz.3_Nonsense_Mutation_p.R583*|C3orf20_uc003bza.3_Nonsense_Mutation_p.R583*|C3orf20_uc003bzb.1_Nonsense_Mutation_p.R206*|C3orf20_uc011avj.2_Nonsense_Mutation_p.R32*	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	705						cytoplasm|integral to membrane		p.P704A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GTTGGCGCCCCGAGACCCCAG	0.602000														40			16		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94945194	94945194	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:94945194C>T	uc002btj.3	+	15	2096	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	MCTP2_uc010boj.3_Silent_p.F406F|MCTP2_uc010bok.3_Silent_p.F677F|MCTP2_uc002btk.4_Silent_p.F265F|MCTP2_uc002btl.3_Silent_p.F265F	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	677					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAATGCAGTTCCTTAAAAGCT	0.353000														121			21		0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8758078	8758078	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8758078C>T	uc001qur.2	-	2	239	c.160G>A	c.(160-162)Ggc>Agc	p.G54S	AICDA_uc001qup.1_Missense_Mutation_p.G49S|AICDA_uc001quq.1_Missense_Mutation_p.G49S|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	54					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					ACGTGGCAGCCGTTCTGGAGA	0.557000														47			15		0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100777118	100777118	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100777118C>T	uc003uxt.3	+	4	991	c.843C>T	c.(841-843)ctC>ctT	p.L281L	SERPINE1_uc011kkj.2_Silent_p.L266L|SERPINE1_uc003uxu.2_Silent_p.L112L	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	281				QLI -> HVM (in Ref. 7; CAA31208).	angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GTGCCCAGCTCATCAGCCACT	0.587000														77			26		0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136401900	136401900	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:136401900G>A	uc011mdl.2	+	1	623	c.66G>A	c.(64-66)ggG>ggA	p.G22G	ADAMTSL2_uc004cei.3_Silent_p.G22G	NM_001145320	NP_055509	Q86TH1	ATL2_HUMAN	Homo sapiens ADAMTS-like 2 (ADAMTSL2), transcript variant 2, mRNA.	22					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.G22V(1)		kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TTGTAGCTGGGGACACAGTGT	0.602000														64			17		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240404	126240404	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126240404T>A	uc003ifj.4	+	0	2838	c.2838T>A	c.(2836-2838)aaT>aaA	p.N946K		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	946	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGAAAAGAATGGCACTATTA	0.488000														43			18		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22834550	22834550	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22834550C>T	uc001bft.2	+	7	1928	c.1417C>T	c.(1417-1419)Ctc>Ttc	p.L473F	ZBTB40_uc001bfu.2_Missense_Mutation_p.L473F|ZBTB40_uc009vqi.1_Missense_Mutation_p.L361F|ZBTB40_uc001bfv.1_Missense_Mutation_p.L102F	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	473					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TCATGAAAACCTCTCTGAGAT	0.393000														108			31		0	0	1	0	0
THSD1P1	374500	broad.mit.edu	37	13	52854008	52854009	+	RNA	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:52854008_52854009CC>TT	uc001vgm.1	-	5		c.517_518GG>AA								Homo sapiens thrombospondin, type I, domain containing 1 pseudogene 1 (THSD1P1), non-coding RNA.																		GACTGGCCTCCCGAAGATGGAA	0.302000														18			3		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20490544	20490544	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:20490544G>A	uc001ytf.1	+	3		c.524G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TGGATCCAAAGGCATGTTTTA	0.438000														305			14		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156916190	156916190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156916190G>A	uc003lwz.3	-	19	2324	c.2245C>T	c.(2245-2247)Ccc>Tcc	p.P749S	ADAM19_uc003lww.2_Missense_Mutation_p.P482S|ADAM19_uc003lwy.3_Missense_Mutation_p.P348S|ADAM19_uc011ddr.1_Missense_Mutation_p.P680S	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	749					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCCTGAAGGGACAACTAGAA	0.547000														23			8		0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20819666	20819666	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:20819666G>A	uc002zsl.2	-	3	748	c.591C>T	c.(589-591)taC>taT	p.Y197Y	KLHL22_uc011ahr.2_Silent_p.Y54Y	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	197					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGAGGAGGGAGTAGACCTTCT	0.557000														44			25		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120809324	120809324	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:120809324G>A	uc001ldu.3	-	16	2793	c.2647C>T	c.(2647-2649)Ctt>Ttt	p.L883F	EIF3A_uc010qsu.2_Missense_Mutation_p.L849F|EIF3A_uc009xzg.1_5'UTR	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	883					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TTTCTAGAAAGGGAACTATCG	0.403000														183			72		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78638703	78638703	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:78638703G>A	uc004akc.2	+	3	999	c.461G>A	c.(460-462)gGa>gAa	p.G154E	PCSK5_uc004ajy.2_Missense_Mutation_p.G154E|PCSK5_uc004ajz.3_Missense_Mutation_p.G154E|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	154	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AATATCGAAGGAGCCTGGAAG	0.453000														88			16		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52945952	52945952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:52945952C>T	uc003gzl.3	+	8	1500	c.1222C>T	c.(1222-1224)Cct>Tct	p.P408S	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.P376S|SPATA18_uc003gzk.1_Missense_Mutation_p.P408S	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	408					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GATTTCATTCCCTCCTGTCGT	0.438000														226			75		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151771802	151771802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:151771802C>T	uc003luv.2	-	3	1364	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	400					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GACATCTGTTCACTAGAGAGG	0.458000														107			43		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65260194	65260194	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:65260194C>T	uc001xht.3	-	12	2238	c.2187G>A	c.(2185-2187)aaG>aaA	p.K729K	SPTB_uc001xhr.3_Silent_p.K729K|SPTB_uc001xhs.3_Silent_p.K729K|SPTB_uc001xhu.3_Silent_p.K729K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	729					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.L728V(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CAGCCAGGTCCTTCAGCTGGT	0.592000														40			14		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192395	132192395	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:132192395G>A	uc003vra.4	-	1	1287	c.1058C>T	c.(1057-1059)tCg>tTg	p.S353L	PLXNA4_uc003vrc.2_Missense_Mutation_p.S353L|PLXNA4_uc003vrb.3_Missense_Mutation_p.S353L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	353	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCACAGGGCCGACTCATCCAG	0.572000														72			19		0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76787359	76787359	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:76787359C>T	uc003hix.3	-	14	2260	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_3'UTR	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	635					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTCAGTTGTTCCTTGGCCAAG	0.498000														120			56		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59203811	59203811	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:59203811G>A	uc010dps.1	+	6	1509	c.1357G>A	c.(1357-1359)Gac>Aac	p.D453N	CDH20_uc002lif.2_Missense_Mutation_p.D447N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	453	Cadherin 4.				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)				AAGACCCCTAGACCGGGAAGA	0.418000														135			56		0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187172751	187172751	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187172751C>T	uc003iyy.3	+	8	1050	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	KLKB1_uc011clc.2_Missense_Mutation_p.R125C|KLKB1_uc011cld.2_Missense_Mutation_p.R289C	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	327	Apple 4.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.R327H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AAAGATGATTCGCTGTCAGTT	0.353000														87			38		0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100205629	100205629	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:100205629G>A	uc003hur.2	-	4	608	c.494C>T	c.(493-495)tCg>tTg	p.S165L	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'UTR	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	165					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	p.S165S(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CTCTAGAGGCGAGGCTGCATC	0.478000														74			25		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69961741	69961741	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:69961741G>A	uc001jnm.4	+	18	3834	c.3649G>A	c.(3649-3651)Gag>Aag	p.E1217K	MYPN_uc001jnn.4_Missense_Mutation_p.E942K|MYPN_uc001jno.4_Missense_Mutation_p.E1217K|MYPN_uc009xpt.3_Missense_Mutation_p.E1217K|MYPN_uc010qit.2_Missense_Mutation_p.E923K|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	1217	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTGCACCAGAGAGAGGATCAG	0.567000														108			45		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211735	38211735	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:38211735G>A	uc010abx.3	-	10	2489	c.2254C>T	c.(2254-2256)Cgc>Tgc	p.R752C	TRPC4_uc010abv.3_Missense_Mutation_p.R327C|TRPC4_uc001uwt.3_Missense_Mutation_p.R747C|TRPC4_uc001uws.3_Missense_Mutation_p.R747C|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Missense_Mutation_p.R574C|TRPC4_uc010aby.3_Missense_Mutation_p.R682C	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	747	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ACTTCAAAGCGGAAACTAGAA	0.363000														64			20		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1278759	1278759	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1278759G>A	uc003jcb.1	-	5	2341	c.2283C>T	c.(2281-2283)agC>agT	p.S761S	TERT_uc003jbz.1_Missense_Mutation_p.A18V|TERT_uc003jcc.1_Silent_p.S761S|TERT_uc003jca.1_Silent_p.S749S|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Silent_p.S213S	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	761	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACCTTACGTGGCTCTTGAAGG	0.552000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					308			152		0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378024	19378024	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:19378024C>T	uc010tkp.2	+	0	431	c.431C>T	c.(430-432)cCc>cTc	p.P144L		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P144P(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTGCCGTCCCTTGCTCTAT	0.448000														121			41		0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104189916	104189916	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104189916C>T	uc004bbk.2	-	4	470	c.388G>A	c.(388-390)Ggc>Agc	p.G130S		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	130					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TCTGAGAGGCCATCAAGCCCT	0.507000														51			30		0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88813139	88813139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:88813139G>A	uc010iko.1	+	0	145	c.145G>A	c.(145-147)Gat>Aat	p.D49N						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		TAATGCTTCTGATGCCTTGGA	0.453000														82			37		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86524856	86524856	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:86524856C>T	uc001dlj.3	-	9	1828	c.1753_splice	c.e9-1	p.G585_splice	COL24A1_uc010osf.2_Splice_Site|COL24A1_uc010osd.2_Splice_Site|COL24A1_uc001dlk.3_Splice_Site|COL24A1_uc010ose.2_Splice_Site|COL24A1_uc009wcq.3_Splice_Site_p.G585_splice	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	585	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCTGGAATTCCCTGAAATAA	0.333000														50			13		0	0	1	0	0
SHD	56961	broad.mit.edu	37	19	4283066	4283066	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4283066G>A	uc002lzw.2	+	2	1882	c.419G>A	c.(418-420)gGg>gAg	p.G140E		NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA.	140										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGCAGAGGGGTGCAGCTC	0.612000														57			6		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57420500	57420500	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57420500C>T	uc001cyp.3	-	4	459	c.392_splice	c.e4-1	p.G131_splice	C8B_uc010oon.2_Splice_Site_p.G69_splice|C8B_uc010ooo.2_Splice_Site_p.G79_splice	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	131	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TACACACCTTCCTAGAATGGA	0.433000														86			17		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86327250	86327250	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:86327250G>A	uc002sqs.3	-	1	502	c.123C>T	c.(121-123)agC>agT	p.S41S		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	41					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGTTCCCCAGGCTGTCCAGGT	0.483000														63			25		0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46145989	46145989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:46145989C>T	uc002ldd.3	+	2	412	c.53C>T	c.(52-54)tCc>tTc	p.S18F	CTIF_uc002ldc.3_Missense_Mutation_p.S18F	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	18	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						AGCAGCCGCTCCCAGGAGATC	0.642000														6			4		0	0	1	0	0
KLF11	8462	broad.mit.edu	37	2	10186390	10186390	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:10186390T>A	uc002raf.1	+	1	318	c.156T>A	c.(154-156)gtT>gtA	p.V52V	KLF11_uc021vdq.1_Silent_p.V35V|KLF11_uc010yjc.2_Silent_p.V35V	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	52					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		AGGCTCTTGTTTGTATGAGCT	0.537000														51			31		0	0	1	0	0
PTH	5741	broad.mit.edu	37	11	13514323	13514323	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:13514323G>A	uc001mlb.3	-	1	195	c.80C>T	c.(79-81)tCt>tTt	p.S27F		NM_000315	NP_000306	P01270	PTHY_HUMAN	Homo sapiens parathyroid hormone (PTH), mRNA.	27					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		TTACTTAACAGATTTCCCATC	0.373000														31			9		0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58302915	58302916	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:58302915_58302916CC>TT	uc002aex.3	-	3	697_698	c.424_425GG>AA	c.(424-426)ggc>AAc	p.G142N	ALDH1A2_uc010ugv.2_Missense_Mutation_p.G121N|ALDH1A2_uc002aey.3_Missense_Mutation_p.G142N|ALDH1A2_uc010ugw.2_Missense_Mutation_p.G113N|ALDH1A2_uc002aew.3_Missense_Mutation_p.G46N	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	142					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTTGATGACGCCCTGCAAATCC	0.431000														51			22		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81864669	81864669	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:81864669C>T	uc010tvu.2	-	0	256	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	STON2_uc001xvk.1_Missense_Mutation_p.E20K|STON2_uc010atc.1_Missense_Mutation_p.E20K	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	20					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGTGGCTCTTCATTGAAGGAG	0.483000														48			18		0	0	1	0	0
GBP1P1	400759	broad.mit.edu	37	1	89886716	89886716	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:89886716G>A	uc009wcy.1	+	3		c.494G>A								Homo sapiens guanylate binding protein 1, interferon-inducible pseudogene 1 (GBP1P1), non-coding RNA.																		AATAGCATAGGAACCATTAAC	0.522000														65			21		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53663157	53663157	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53663157C>T	uc001sck.2	+	2	522	c.431C>T	c.(430-432)gCt>gTt	p.A144V	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	144					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GAGGCCGTGGCTCGGGGCAGC	0.622000														48			35		0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456633	5456634	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:5456633_5456634GG>AA	uc002mca.4	+	0	1208_1209	c.1131_1132GG>AA	c.(1129-1134)ccgggc>ccAAgc	p.G378S		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	378						integral to membrane	zinc ion binding	p.P377Q(2)		NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CCTCCCTACCGGGCCACCGGCC	0.683000														97			30		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78440509	78440509	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:78440509G>A	uc001ozl.4	-	21	3781	c.3318C>T	c.(3316-3318)ttC>ttT	p.F1106F		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1106					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GGGCTGCAGCGAACCACTTCC	0.557000														9			6		0	0	1	0	0
CNN2	1265	broad.mit.edu	37	19	1037846	1037846	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:1037846C>T	uc002lqu.3	+	6	1240	c.877C>T	c.(877-879)Ccg>Tcg	p.P293S	ABCA7_uc002lqw.4_5'Flank|CNN2_uc002lqv.3_Missense_Mutation_p.P254S|CNN2_uc010xgb.2_Missense_Mutation_p.P282S|CNN2_uc010xgc.2_Missense_Mutation_p.P314S|ABCA7_uc010dsa.3_5'Flank	NM_004368	NP_004359	Q99439	CNN2_HUMAN	Homo sapiens calponin 2 (CNN2), transcript variant 1, mRNA.	293					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CTGCCCGGACCCGGGGGAGGT	0.657000														97			33		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101710325	101710325	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:101710325G>A	uc001vox.1	-	42	5178	c.4989C>T	c.(4987-4989)ccC>ccT	p.P1663P		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1663						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATTTCCTCTGGGGTTTCCCTG	0.562000														62			18		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514787	233514787	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233514787C>T	uc001hvt.4	+	8	2296	c.2035C>T	c.(2035-2037)Cag>Tag	p.Q679*	KIAA1804_uc001hvu.4_Nonsense_Mutation_p.Q125*	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	679					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GAAAGATGCTCAGAGAGAGAA	0.463000														93			43		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228479753	228479753	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228479753G>A	uc009xez.1	+	38	10538	c.10494G>A	c.(10492-10494)caG>caA	p.Q3498Q	OBSCN_uc001hsn.3_Silent_p.Q3498Q|OBSCN_uc001hsq.1_Silent_p.Q754Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3498	Ig-like 35.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCTGAGGCAGGAGGGGACCA	0.627000														65			29		0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79193782	79193782	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:79193782G>A	uc002jzp.1	-	1	275	c.75C>T	c.(73-75)ctC>ctT	p.L25L	AZI1_uc002jzn.1_Silent_p.L25L|AZI1_uc002jzo.1_Silent_p.L25L|AZI1_uc010wum.1_Silent_p.L25L	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	25					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CAGGCGGAGGGAGACCTGTCA	0.677000														65			23		0	0	1	0	0
ADAD2	161931	broad.mit.edu	37	16	84228059	84228059	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84228059C>T	uc002fhq.2	+	2	760	c.646C>T	c.(646-648)Ccc>Tcc	p.P216S	ADAD2_uc002fhr.2_Missense_Mutation_p.P144S|AK123582_uc002fhs.1_Missense_Mutation_p.G102R	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	144					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	p.P216S(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TCCCTGCTTCCCCTTCTCGGT	0.642000														11			7		0	0	1	0	0
SPATA19	219938	broad.mit.edu	37	11	133714141	133714141	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:133714141C>T	uc001qgv.1	-	4	410	c.359_splice	c.e4+1	p.S120_splice		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA.	120					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GACACCTTACCTCCATCTTAT	0.527000														87			29		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14724560	14724560	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:14724560G>A	uc003byy.3	+	2	792	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	C3orf20_uc003byz.3_5'UTR|C3orf20_uc003bza.3_5'UTR|C3orf20_uc003byx.2_Missense_Mutation_p.A114T	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	114						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CACTGGGGCAGCCAAGCGCTC	0.627000														19			3		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936219	30936219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:30936219C>T	uc002nsu.1	+	1	1888	c.1750C>T	c.(1750-1752)Cac>Tac	p.H584Y	ZNF536_uc010edd.1_Missense_Mutation_p.H584Y	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGATTTGGTTCACAGCACTAA	0.517000														77			23		0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18170851	18170851	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18170851G>A	uc002nhx.1	-	16	2007	c.1956C>T	c.(1954-1956)tcC>tcT	p.S652S	IL12RB1_uc002nhw.1_Silent_p.S612S|IL12RB1_uc010xqb.1_Silent_p.S612S	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	612					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCTCCTGCAGGGATGCCTCTT	0.607000														17			3		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40739002	40739002	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:40739002C>T	uc002xkg.3	-	22	3409	c.3225G>A	c.(3223-3225)ccG>ccA	p.P1075P	PTPRT_uc010ggj.3_Silent_p.P1094P|PTPRT_uc010ggi.3_Silent_p.P278P	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1075	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.H1075N(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCCAGCTTCCGGGGGGTTGA	0.627000														50			13		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681346	100681346	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100681346G>A	uc003uxp.1	+	2	6702	c.6649G>A	c.(6649-6651)Gaa>Aaa	p.E2217K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2217	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTAGTGAAGGAAGCAC	0.507000														563			235		0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184233578	184233578	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:184233578C>T	uc010irx.3	+	21	3651	c.3469C>T	c.(3469-3471)Cgg>Tgg	p.R1157W	WWC2_uc003ivk.4_Missense_Mutation_p.R952W|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.R839W|WWC2_uc003ivn.4_Missense_Mutation_p.R672W|WWC2_uc010irz.3_Missense_Mutation_p.R498W|WWC2_uc003ivo.4_Missense_Mutation_p.R285W	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	1157										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GTGTCGGCTCCGGGAGCAGAG	0.542000														100			24		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46772028	46772028	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:46772028C>T	uc002eei.4	-	2	712	c.596G>A	c.(595-597)gGg>gAg	p.G199E	MYLK3_uc010vge.2_Intron|MYLK3_uc002eej.1_5'UTR	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	199				G -> R (in Ref. 1; CAC42766).	cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTCCGCTGTCCCCTCCAGCAC	0.617000														9			3		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121420752	121420752	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121420752C>T	uc001pxx.3	+	14	2264	c.2135C>T	c.(2134-2136)cCt>cTt	p.P712L		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	712					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCATACTCCCCTCCTGTGCCT	0.488000														101			30		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40362803	40362803	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40362803G>A	uc002omp.4	-	31	15275	c.15267C>T	c.(15265-15267)ttC>ttT	p.F5089F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5089						extracellular region	protein binding	p.F5089F(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCGGCACAGGAAGGCTTTGT	0.657000														132			52		0	0	1	0	0
PTCD2	79810	broad.mit.edu	37	5	71616244	71616244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:71616244C>T	uc003kcb.3	+	0	45	c.35C>T	c.(34-36)cCc>cTc	p.P12L	MRPS27_uc003kca.4_5'Flank|MRPS27_uc003kbz.4_5'Flank|MRPS27_uc011cse.2_5'Flank|MRPS27_uc010iza.3_5'Flank|PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_5'UTR|PTCD2_uc011csh.2_Missense_Mutation_p.P12L|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	12										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GCATTTCGGCCCTCGAATCGA	0.622000														51			12		0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3449086	3449086	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3449086C>T	uc010xhi.2	+	6	1103	c.1033C>T	c.(1033-1035)Cgc>Tgc	p.R345C	NFIC_uc002lxo.3_Missense_Mutation_p.R336C|NFIC_uc010xhh.2_Missense_Mutation_p.R336C|NFIC_uc010xhj.2_Missense_Mutation_p.R345C|NFIC_uc002lxp.3_Missense_Mutation_p.R345C	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	345					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GGACTCTCCCCGCCTCTCCAG	0.672000														26			21		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70942322	70942322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:70942322C>T	uc003pfg.4	-	35	2626	c.2467G>A	c.(2467-2469)Ggg>Agg	p.G823R	COL9A1_uc003pfe.4_Missense_Mutation_p.G372R|COL9A1_uc003pff.4_Missense_Mutation_p.G580R	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	823	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGGGGGCCCCTTAATGCCC	0.552000														141			12		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4703806	4703806	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:4703806C>T	uc003bqc.3	+	13	1597	c.1247C>T	c.(1246-1248)gCc>gTc	p.A416V	ITPR1_uc021wsi.1_Missense_Mutation_p.A431V|ITPR1_uc021wsj.1_Missense_Mutation_p.A416V|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	431	MIR 5.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GAAGCATTTGCCATAGTTCCG	0.493000														70			30		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143388	55143388	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55143388G>A	uc002qgj.3	+	5	701	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.A121T|LILRB1_uc002qgk.3_Missense_Mutation_p.A121T|LILRB1_uc002qgm.3_Missense_Mutation_p.A121T|LILRB1_uc010erq.3_Missense_Mutation_p.A121T|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.	121	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			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)		TCTCCTAGGAGCCTACATCAA	0.597000										HNSCC(37;0.09)				110			9		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186015231	186015231	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:186015231C>T	uc003fqa.3	-	4	889	c.352G>A	c.(352-354)Gag>Aag	p.E118K	DGKG_uc003fqb.3_Missense_Mutation_p.E118K|DGKG_uc003fqc.3_Missense_Mutation_p.E118K|DGKG_uc011brx.2_Missense_Mutation_p.E118K	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	118					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)	GCACAGGCCTCGTCTGCTTTG	0.448000														106			21		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147027949	147027949	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:147027949C>T	uc010jgo.1	-	3	1074	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	JAKMIP2_uc003loq.1_Missense_Mutation_p.R309Q|JAKMIP2_uc011dbx.1_Missense_Mutation_p.R267Q|JAKMIP2_uc003lor.1_Missense_Mutation_p.R309Q|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	309						Golgi apparatus		p.R309*(1)|p.E308A(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCATTTCGTTCATCTCC	0.303000														98			36		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128483850	128483850	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128483850G>A	uc003vnz.4	+	19	3021	c.2812_splice	c.e19-1	p.G938_splice	FLNC_uc003voa.4_Splice_Site_p.G938_splice	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	938					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TACCCAACAGGGCAACATGGC	0.527000														100			76		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137655578	137655578	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:137655578G>A	uc004cfe.3	+	19	2411	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	677	Triple-helical region.			E -> K (in Ref. 1; BAA14323).|E -> Q (in Ref. 4; AA sequence).	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCTGCCTGGGGAGCCCGTAAG	0.592000														82			10		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79414146	79414146	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:79414146C>T	uc002kaf.2	+	9	3062	c.3062C>T	c.(3061-3063)cCt>cTt	p.P1021L	BAHCC1_uc002kae.2_Missense_Mutation_p.P313L	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	1083	Pro-rich.						DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CTCGAGGACCCTGAAACTATG	0.662000														61			24		0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	29976195	29976195	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:29976195G>A	uc011kaa.2	-	5	991	c.942C>T	c.(940-942)ttC>ttT	p.F314F	SCRN1_uc011jzy.2_Silent_p.F226F|SCRN1_uc003tak.3_Silent_p.F294F|SCRN1_uc011jzz.2_Silent_p.F294F|SCRN1_uc011jzw.2_Silent_p.F161F|SCRN1_uc010kvp.3_Silent_p.F294F|SCRN1_uc011jzx.2_Silent_p.F117F	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	294					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GGGTTCCAGTGAAGTAGTGAA	0.522000														149			37		0	0	1	0	0
PRELP	5549	broad.mit.edu	37	1	203452401	203452401	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203452401C>T	uc001gzs.3	+	1	289	c.89C>T	c.(88-90)aCt>aTt	p.T30I	PRELP_uc001gzt.3_Missense_Mutation_p.T30I	NM_002725	NP_958505	P51888	PRELP_HUMAN	Homo sapiens proline/arginine-rich end leucine-rich repeat protein (PRELP), transcript variant 1, mRNA.	30					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			AGACCCGGGACTGGGCCCGGG	0.647000														92			27		0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104159900	104159900	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104159900C>T	uc001kvb.3	+	14	1798	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	NFKB2_uc001kva.3_Silent_p.I511I|NFKB2_uc001kvd.3_Silent_p.I511I|NFKB2_uc009xxc.3_Silent_p.I511I	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	511					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TCTATGTCATCCACCACGCCC	0.632000			T	IGH@	B-NHL									67			7		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53062516	53062516	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:53062516C>T	uc003xqz.2	-	10	1984	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K	ST18_uc011ldq.1_Missense_Mutation_p.E257K|ST18_uc011ldr.1_Missense_Mutation_p.E575K|ST18_uc011lds.1_Missense_Mutation_p.E515K|ST18_uc003xra.2_Missense_Mutation_p.E610K|ST18_uc003xrb.2_Missense_Mutation_p.E610K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	610						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GTGCCATTTTCATCCACTTCT	0.418000														86			36		0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44079588	44079588	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:44079588G>A	uc002rtq.3	+	4	747	c.657G>A	c.(655-657)agG>agA	p.R219R	ABCG8_uc010yoa.2_Silent_p.R219R	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	219	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTGAGCGCAGGAGAGTCAGCA	0.677000														34			22		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085498	9085498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9085498G>A	uc002mkp.3	-	0	6521	c.6317C>T	c.(6316-6318)cCa>cTa	p.P2106L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2106	Ser-rich.|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						CTCTGTTTCTGGATTTCTTTG	0.498000														152			50		0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113346511	113346511	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113346511G>A	uc001tuc.3	+	1	457	c.351G>A	c.(349-351)gtG>gtA	p.V117V	OAS1_uc010syn.2_Silent_p.V116V|OAS1_uc010syo.2_Silent_p.V116V|OAS1_uc001tub.3_Silent_p.V117V|OAS1_uc001tud.3_Silent_p.V117V|OAS1_uc009zwf.3_Silent_p.V116V	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	117	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CATTTTCCGTGAAGTTTGAGG	0.562000														53			14		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140938301	140938301	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140938301C>T	uc004cog.3	+	20	3507	c.3362C>T	c.(3361-3363)cCc>cTc	p.P1121L	CACNA1B_uc022bqn.1_Missense_Mutation_p.P1121L|CACNA1B_uc011mfd.2_Missense_Mutation_p.P722L|CACNA1B_uc004coi.3_Missense_Mutation_p.P331L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1121					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGGAGCGGCCCCCGGCCTATC	0.602000														158			74		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341852	121341852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121341852C>T	uc003eeg.2	+	2	1786	c.1576C>T	c.(1576-1578)Cgt>Tgt	p.R526C		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	526					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AAACCATTTCCGTCCCCCAGG	0.502000														47			13		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74017761	74017761	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74017761G>A	uc010wss.1	-	7	1137	c.909C>T	c.(907-909)ccC>ccT	p.P303P	EVPL_uc002jqi.2_Silent_p.P303P|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	303	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						gcaccTGGATGGGCCCCACCG	0.721000														14			4		0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53220037	53220037	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:53220037C>T	uc003dgl.3	+	11	1433	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	PRKCD_uc003dgm.3_Silent_p.F360F	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	360	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		AAGGCAGCTTCGGGAAGGTGA	0.607000														39			12		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104062929	104062929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:104062929G>A	uc003hxb.1	-	34	5531	c.5441C>T	c.(5440-5442)tCa>tTa	p.S1814L	CENPE_uc003hxc.1_Missense_Mutation_p.S1789L|CENPE_uc003hxd.1_5'Flank	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1814					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTAGCATTTGAATTTTCTAA	0.313000														44			4		0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40330368	40330368	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:40330368G>A	uc002hzb.2	-	2	771	c.438C>T	c.(436-438)ggC>ggT	p.G146G		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	146					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTCCCCGCGGCCTCCTTGGG	0.567000														22			21		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887521	9887521	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:9887521G>A	uc002koi.4	+	1	1494	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	TXNDC2_uc002koh.4_Missense_Mutation_p.E282K|TXNDC2_uc021ugx.1_Missense_Mutation_p.E282K	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	349	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CAAGTCCCCAGAAGAAACCAT	0.562000														137			68		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72596824	72596824	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:72596824G>A	uc003pga.3	+	0	175	c.98G>A	c.(97-99)aGg>aAg	p.R33K		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	33	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAAGAGGAGAGGAACATTATC	0.622000														15			15		0	0	1	0	0
INO80E	283899	broad.mit.edu	37	16	30012298	30012298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30012298C>T	uc002dvg.1	+	4	434	c.333C>T	c.(331-333)tcC>tcT	p.S111S	BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_Non-coding_Transcript	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN	Homo sapiens INO80 complex subunit E (INO80E), mRNA.	111	Pro-rich.				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						CCAGCCTCTCCCTGCCTCCTT	0.657000														62			17		0	0	1	0	0
DNPEP	23549	broad.mit.edu	37	2	220239650	220239650	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220239650G>A	uc002vle.2	-	13	1480	c.1334C>T	c.(1333-1335)cCc>cTc	p.P445L	DNPEP_uc002vli.2_Missense_Mutation_p.P392L|DNPEP_uc010zlg.2_Missense_Mutation_p.P453L	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	435					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	GGCCAGTTGGGGGCTGCCTAA	0.607000														54			20		0	0	1	0	0
TRIP13	9319	broad.mit.edu	37	5	893150	893150	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:893150C>T	uc003jbr.3	+	0	182	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S	BRD9_uc003jbl.3_5'Flank|BRD9_uc003jbm.3_5'Flank|BRD9_uc003jbn.3_5'Flank|BRD9_uc011cmb.2_5'Flank|BRD9_uc003jbq.3_5'Flank|BRD9_uc003jbo.3_5'Flank|BRD9_uc011cmc.1_5'Flank|TRIP13_uc010ite.2_Missense_Mutation_p.P13S	NM_004237	NP_004228	Q15645	PCH2_HUMAN	Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA.	13					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GCAGGCGCTTCCCTGTGTGGC	0.726000														8			6		0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50701195	50701195	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50701195G>A	uc001jhs.4	-	7	1943	c.1789C>T	c.(1789-1791)Cta>Tta	p.L597L	ERCC6_uc010qgr.2_Intron|ERCC6_uc001jhr.4_5'UTR	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	597	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTTTCATGTAGAATTGCCACT	0.413000								Direct reversal of damage;Nucleotide excision repair (NER)						42			12		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73964162	73964163	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73964162_73964163GG>AA	uc004eby.3	-	2	846_847	c.229_230CC>TT	c.(229-231)ccg>TTg	p.P77L		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	77					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	p.P77L(2)		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						AGGAGAGGGCGGGCTCTGCATA	0.540000														21			31		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79387418	79387418	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:79387418G>A	uc001diq.4	-	8	1293	c.1137C>T	c.(1135-1137)acC>acT	p.T379T		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	379	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGCCATTCATGGTATCAGGTG	0.398000														80			30		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15601415	15601415	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:15601415G>A	uc002rcc.1	-	20	2275	c.2249C>T	c.(2248-2250)tCc>tTc	p.S750F	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	750										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AAGCAGGTCGGAACCATGGTA	0.418000														90			20		0	0	1	0	0
PRTN3	5657	broad.mit.edu	37	19	841055	841055	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:841055C>T	uc002lqa.1	+	0	71	c.47C>T	c.(46-48)gCc>gTc	p.A16V	PRTN3_uc021umb.1_5'Flank	NM_002777	NP_002768	P24158	PRTN3_HUMAN	Homo sapiens proteinase 3 (PRTN3), mRNA.	16					collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GTGCTGCTGGCCTTGCTGCTG	0.652000														18			7		0	0	1	0	0
SPANXC	64663	broad.mit.edu	37	X	140335749	140335749	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140335749C>T	uc004fbk.3	-	1	251	c.195G>A	c.(193-195)gaG>gaA	p.E65E	SPANXC_uc004fbl.3_Non-coding_Transcript	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	Homo sapiens SPANX family, member C (SPANXC), mRNA.	65						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TCAGCAGTTCCTCTGGAGATG	0.468000														176			10		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54919034	54919034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54919034G>A	uc021smr.1	+	30	6362	c.6362G>A	c.(6361-6363)gGa>gAa	p.G2121E	UNC13C_uc021sms.1_Missense_Mutation_p.G2123E|UNC13C_uc002acm.3_Missense_Mutation_p.G44E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2123	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G2123E(2)		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)		AGCATTCTCGGAAAGGAAAAT	0.373000														35			8		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45297465	45297465	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45297465C>T	uc002ozs.3	+	8	1352	c.1289C>T	c.(1288-1290)cCc>cTc	p.P430L	CBLC_uc010ejt.3_Missense_Mutation_p.P384L	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	430					cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CCCCAGGTGCCCCTTTCGGCT	0.612000			M		AML									204			40		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976513	38976513	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38976513G>A	uc002oit.3	+	33	5348	c.5218G>A	c.(5218-5220)Gag>Aag	p.E1740K	RYR1_uc002oiu.3_Missense_Mutation_p.E1740K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1740	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTCACGCCTGAGACCCGCGC	0.632000														93			28		0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201438338	201438338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:201438338C>T	uc002uvw.2	+	6	3382	c.3269C>T	c.(3268-3270)cCa>cTa	p.P1090L	SGOL2_uc010zhd.1_Missense_Mutation_p.P1090L|SGOL2_uc010zhe.1_Missense_Mutation_p.P1090L	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	1090					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GATCCTTCTCCAGAGAGCCAT	0.368000														109			55		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9624925	9624925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9624925C>T	uc002wnl.2	-	3	597	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	PAK7_uc002wnk.2_Missense_Mutation_p.E18K|PAK7_uc002wnj.2_Missense_Mutation_p.E18K|PAK7_uc010gby.1_Missense_Mutation_p.E18K	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	18	CRIB.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACCCTGTGTTCAAAGTTGGAC	0.448000														87			31		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106960963	106960963	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106960963G>A	uc001kyi.1	+	15	2440	c.2213G>A	c.(2212-2214)gGa>gAa	p.G738E	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	738						integral to membrane	neuropeptide receptor activity	p.S737S(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GACCACTCAGGATCAGTGGTC	0.493000														103			22		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141583073	141583073	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:141583073G>A	uc010ioj.3	-	9	2049	c.1777C>T	c.(1777-1779)Cga>Tga	p.R593*		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	593	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTGGGATTTCGAAAAGCATAA	0.398000														28			13		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44673674	44673674	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44673674C>T	uc010zxl.1	+	11	1609	c.1533C>T	c.(1531-1533)gtC>gtT	p.V511V	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.V488V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	511					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGGTAATTGTCATCGGATCCT	0.612000														176			48		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157485415	157485415	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157485415G>A	uc009wsm.3	-	16	3132	c.2974C>T	c.(2974-2976)Ccc>Tcc	p.P992S	FCRL5_uc001fqu.3_3'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	0						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TCCCCCAAGGGGAACTTTGGG	0.532000														141			49		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158505106	158505106	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:158505106C>T	uc003qqx.2	+	21	3214	c.3108C>T	c.(3106-3108)ctC>ctT	p.L1036L	SYNJ2_uc003qqw.2_Silent_p.L1036L|SYNJ2_uc003qqy.2_Silent_p.L799L|SYNJ2_uc003qqz.2_Silent_p.L653L|SYNJ2_uc003qra.2_Silent_p.L379L	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1036							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACAGTGAACTCGGGGGAGACG	0.517000														157			106		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234590739	234590739	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234590739G>A	uc002vut.3	+	0	156	c.156G>A	c.(154-156)ggG>ggA	p.G52G	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Silent_p.G52G	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	54					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TCCTCAGGGGGCATGAGGTGG	0.547000														174			10		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3329159	3329159	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3329159G>A	uc001akf.3	+	8	2480	c.2398G>A	c.(2398-2400)Gag>Aag	p.E800K	PRDM16_uc001ake.3_Missense_Mutation_p.E800K|PRDM16_uc009vlh.3_Missense_Mutation_p.E501K|PRDM16_uc001akc.3_Missense_Mutation_p.E800K	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	800	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ATCCGGCGAGGAGCAGCCGCT	0.692000			T	EVI1	"""MDS, AML"""									21			7		0	0	1	0	0
S100P	6286	broad.mit.edu	37	4	6695749	6695749	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:6695749G>A	uc003gjl.3	+	0	184	c.90G>A	c.(88-90)aaG>aaA	p.K30K		NM_005980	NP_005971	P25815	S100P_HUMAN	Homo sapiens S100 calcium binding protein P (S100P), mRNA.	30	EF-hand 1.				endothelial cell migration	cytoplasm|nucleus	calcium ion binding|calcium-dependent protein binding|magnesium ion binding			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicate(DB01003)	CCCTGACCAAGGGGGAGCTCA	0.597000														40			20		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346601	89346601	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89346601G>A	uc002fmx.1	-	8	6810	c.6349C>T	c.(6349-6351)Ccg>Tcg	p.P2117S	ANKRD11_uc002fmy.1_Missense_Mutation_p.P2117S|ANKRD11_uc002fnc.1_Missense_Mutation_p.P2117S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P2074S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2117	Pro-rich.					nucleus		p.P2117P(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CAGGGCACCGGCTCCACCTGG	0.697000														16			3		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128463994	128463994	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:128463994C>T	uc002tpg.2	-	21	4113	c.3914G>A	c.(3913-3915)cGa>cAa	p.R1305Q		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1305					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CCGGCCCCCTCGAGAAGGGGT	0.617000														204			32		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46787381	46787381	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46787381G>A	uc011dwh.1	+	5	588	c.580G>A	c.(580-582)Gag>Aag	p.E194K	MEP1A_uc010jzh.1_Missense_Mutation_p.E166K|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_Missense_Mutation_p.E66K	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	166	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ATTTTACCACGAGCAGTCAAG	0.478000														150			72		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103410325	103410325	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:103410325G>A	uc001ymi.1	-	29	4543	c.4311C>T	c.(4309-4311)taC>taT	p.Y1437Y	CDC42BPB_uc001ymj.1_Silent_p.Y539Y	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1437	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGCAAAGCAGGTACTCCTCGC	0.582000														50			27		0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394451	17394451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17394451C>T	uc010xpn.1	+	4	1154	c.1040C>T	c.(1039-1041)tCc>tTc	p.S347F	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Missense_Mutation_p.S293F|ANKLE1_uc010eao.1_Missense_Mutation_p.S315F|ANKLE1_uc002nfy.2_Missense_Mutation_p.S282F|ANKLE1_uc002nfz.2_5'UTR			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	293						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TCCTCCCCTTCCTCCATGCCT	0.622000														79			23		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152085471	152085471	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152085471G>A	uc009wne.1	-	2	494	c.222C>T	c.(220-222)ttC>ttT	p.F74F	TCHH_uc001ezp.2_Silent_p.F74F	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	74	EF-hand 2.|S-100-like.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAAATAGGAGGAATTCGTTGA	0.478000														48			10		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41181646	41181646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41181646C>T	uc003jmk.2	-	6	952	c.742G>A	c.(742-744)Gat>Aat	p.D248N	C6_uc003jml.1_Missense_Mutation_p.D248N	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	248	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.D248Y(2)		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)				TTCAAGTCATCTTCTGCAGTT	0.348000														53			14		0	0	1	0	0
FCGRT	2217	broad.mit.edu	37	19	50027802	50027802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50027802C>T	uc002pog.2	+	3	862	c.640C>T	c.(640-642)Cct>Tct	p.P214S	FCGRT_uc002poe.2_Missense_Mutation_p.P214S|FCGRT_uc002pof.2_Missense_Mutation_p.P119S|FCGRT_uc010yax.2_3'UTR|FCGRT_uc002poh.2_Missense_Mutation_p.P74S|FCGRT_uc002poi.2_5'Flank	NM_004107	NP_004098	P55899	FCGRN_HUMAN	Homo sapiens Fc fragment of IgG, receptor, transporter, alpha (FCGRT), transcript variant 2, mRNA.	214	Alpha-3.				antigen processing and presentation|female pregnancy|immune response	MHC class I protein complex|integral to membrane	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		ACCCAGCAGCCCTGGCTTTTC	0.667000														86			27		0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27077035	27077035	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:27077035C>T	uc001mre.1	+	2	426	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	BBOX1_uc009yih.1_Missense_Mutation_p.L20F|BBOX1_uc001mrg.1_Missense_Mutation_p.L20F|BBOX1_uc021qfd.1_Missense_Mutation_p.L20F|BBOX1_uc021qfc.1_Non-coding_Transcript	NM_003986	NP_003977	O75936	BODG_HUMAN	Homo sapiens butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (BBOX1), mRNA.	20					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GATGCAGATCCTCTGGTATGA	0.498000														60			26		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447684	226447684	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:226447684C>T	uc002voe.2	+	3	1726	c.1551C>T	c.(1549-1551)ctC>ctT	p.L517L	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.L287L	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	517																	TGACCAGCCTCTTCTCCTCCG	0.697000														19			9		0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63631777	63631777	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:63631777G>A	uc002sch.3	-	9	1303	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	WDPCP_uc002sce.3_Non-coding_Transcript|WDPCP_uc002scf.3_Missense_Mutation_p.R122C|WDPCP_uc010ypu.2_Non-coding_Transcript|WDPCP_uc002scg.3_Missense_Mutation_p.R89C|WDPCP_uc002sci.2_Missense_Mutation_p.R257C|WDPCP_uc010fcr.1_Missense_Mutation_p.R171C	NM_015910	NP_056994	O95876	FRITZ_HUMAN	Homo sapiens WD repeat containing planar cell polarity effector (WDPCP), mRNA.	281					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CATTCTGTGCGGACAGAACTC	0.433000														83			43		0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43802323	43802323	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43802323C>T	uc002zbb.2	-	8	1004	c.803G>A	c.(802-804)tGg>tAg	p.W268*	TMPRSS3_uc002zay.2_Nonsense_Mutation_p.W26*|TMPRSS3_uc002zaz.2_Nonsense_Mutation_p.W141*|TMPRSS3_uc002zba.2_Nonsense_Mutation_p.W141*|TMPRSS3_uc002zbc.2_Nonsense_Mutation_p.W268*|TMPRSS3_uc002zbd.3_Nonsense_Mutation_p.W268*	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	268	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CTGGATGGTCCATGACTTGGG	0.498000														39			14		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101748762	101748762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:101748762C>T	uc003knn.3	-	8	1730	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	SLCO6A1_uc003kno.3_Missense_Mutation_p.D267N|SLCO6A1_uc003knp.3_Missense_Mutation_p.D520N|SLCO6A1_uc003knq.3_Missense_Mutation_p.D458N	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	520	Kazal-like.					integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TCAATATCATCTCTTCCACAT	0.313000														36			17		0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240674	39240674	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39240674G>A	uc010wfn.2	+	0	216	c.216G>A	c.(214-216)acG>acA	p.T72T		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GCTGTGAGACGACctgctgcc	0.657000														31			13		0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124739717	124739717	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124739717G>A	uc011bke.2	-	3	1239	c.1171C>T	c.(1171-1173)Cca>Tca	p.P391S	HEG1_uc003ehs.4_Missense_Mutation_p.P391S	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	360						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TCATCCCCTGGATTCCCAGTT	0.448000														52			19		0	0	1	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43591154	43591154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:43591154C>T	uc002lbp.4	-	4	443	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	PSTPIP2_uc002lbq.4_Missense_Mutation_p.R116Q	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	116						membrane		p.Q115*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						AACCTTTTTTCGTTGTAGTTT	0.428000														198			16		0	0	1	0	0
LHX2	9355	broad.mit.edu	37	9	126777540	126777540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:126777540C>T	uc010mwi.1	+	2	1226	c.487C>T	c.(487-489)Cac>Tac	p.H163Y	LHX2_uc004boe.1_Missense_Mutation_p.H155Y	NM_004789	NP_004780	P50458	LHX2_HUMAN	Homo sapiens LIM homeobox 2 (LHX2), mRNA.	155	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						CACGGGCGACCACTTCGGCAT	0.607000														97			57		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1271266	1271266	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1271266G>A	uc003jcb.1	-	7	2494	c.2436C>T	c.(2434-2436)ttC>ttT	p.F812F	TERT_uc003jbz.1_Intron|TERT_uc003jcc.1_Silent_p.F812F|TERT_uc003jca.1_Silent_p.F800F|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	812	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGTGGCACATGAAGCGTAGGA	0.652000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					52			6		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50757272	50757272	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:50757272G>A	uc002egm.1	+	8	2964	c.2859G>A	c.(2857-2859)aaG>aaA	p.K953K	NOD2_uc010cbl.1_Silent_p.K703K|NOD2_uc010cbm.1_Silent_p.K703K|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_Non-coding_Transcript|NOD2_uc010cbq.1_Silent_p.K91K|NOD2_uc010cbr.1_Non-coding_Transcript|NOD2_uc010vgq.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	953					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGCTGGCAAAGAACGTCATGC	0.527000														33			8		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161162403	161162403	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:161162403C>T	uc003qtm.4	+	16	2191	c.2079C>T	c.(2077-2079)gtC>gtT	p.V693V		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	693	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATTATGTGGTCGCTGACCGGA	0.473000														39			24		0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203017798	203017798	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203017798C>T	uc009xaj.3	+	14	1765	c.1765C>T	c.(1765-1767)Ctg>Ttg	p.L589L	PPFIA4_uc010pqf.2_Silent_p.L145L|PPFIA4_uc001gyz.3_5'Flank|PPFIA4_uc001gza.3_5'Flank			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	132	SAM 3.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CAACGAGCGTCTGCAGCTCCA	0.652000														22			4		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537083	5537083	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5537083C>T	uc001maz.4	-	0	874	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	197								p.E197*(2)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TCTAGATGTTCTGAAATGAAC	0.493000														134			52		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655984	40655984	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:40655984G>A	uc002rrx.3	-	0	1461	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	SLC8A1_uc002rry.3_Silent_p.I479I|SLC8A1_uc002rsb.2_Silent_p.I479I|SLC8A1_uc002rrz.3_Silent_p.I479I|SLC8A1_uc002rsa.3_Silent_p.I479I|SLC8A1_uc002rsd.4_Silent_p.I479I|SLC8A1_uc010fan.1_Silent_p.I479I|SLC8A1_uc002rsc.1_Silent_p.I479I	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	479	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATCATCTATGATACCCACTC	0.423000														59			32		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63955210	63955210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:63955210G>A	uc002amp.3	-	43	9022	c.8874C>T	c.(8872-8874)atC>atT	p.I2958I		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2958					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTACCTCTGGGATCCACATTC	0.468000														63			8		0	0	1	0	0
TPTEP1	387590	broad.mit.edu	37	22	17178407	17178407	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17178407G>A	uc002zls.1	+	2		c.489G>A								Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		CGCTCAGCACGAAGGCCTTGT	0.597000														21			25		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080766	23080766	+	Missense_Mutation	SNP	G	A	A	rs138556206		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23080766G>A	uc002dll.3	-	15	2660	c.2660C>T	c.(2659-2661)tCg>tTg	p.S887L	USP31_uc002dlk.3_Missense_Mutation_p.S159L|USP31_uc010vca.2_Missense_Mutation_p.S190L|USP31_uc010bxm.3_Missense_Mutation_p.S175L	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	887	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTGAATTGGCGAATCCCCTGA	0.517000														33			4		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142643344	142643344	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142643344G>A	uc003wcb.3	-	10	1474	c.1264C>T	c.(1264-1266)Ctg>Ttg	p.L422L		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	422					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.T421T(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AAAGCCGCCAGCGTGGGCTCG	0.592000														44			4		0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4645066	4645066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:4645066C>T	uc002fyu.2	+	1	812	c.782C>T	c.(781-783)cCc>cTc	p.P261L	CXCL16_uc002fyr.4_5'Flank|CXCL16_uc002fys.4_5'Flank|ZMYND15_uc002fyv.2_Missense_Mutation_p.P261L|ZMYND15_uc002fyt.2_Missense_Mutation_p.P261L	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	261							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TCTGGGGATCCCCGAAAGCCC	0.622000														20			19		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54817803	54817803	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54817803C>T	uc021smr.1	+	22	5508	c.5508C>T	c.(5506-5508)gtC>gtT	p.V1836V	UNC13C_uc021sms.1_Silent_p.V1838V	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1838					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S1836S(1)		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)		TCAGTGGGGTCCTGGATGAGC	0.388000														32			5		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20994161	20994161	+	Missense_Mutation	SNP	G	A	A	rs145048646		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20994161G>A	uc010vbe.2	-	48	7741	c.7741C>T	c.(7741-7743)Cct>Tct	p.P2581S	DNAH3_uc010vbd.2_Missense_Mutation_p.P16S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2581	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCAGCGAAGGGAACATCCGC	0.488000														79			36		0	0	1	0	0
PPP6R1	22870	broad.mit.edu	37	19	55750817	55750817	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55750817G>A	uc002qjv.3	-	13	1976	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	PPP6R1_uc002qjw.4_Silent_p.F569F	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 1 (PPP6R1), mRNA.	569	Glu-rich.|Poly-Glu.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						CATTGAAGCCGAAGTGGTCAA	0.612000														19			5		0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23931438	23931438	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:23931438G>A	uc001ywk.3	-	0	1013	c.927C>T	c.(925-927)ccC>ccT	p.P309P		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	309					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.P309L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGTGGGCAGTGGGATTAGCCT	0.597000									Prader-Willi syndrome					56			23		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3655168	3655168	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3655168C>T	uc002fwo.4	-	15	1768	c.1669_splice	c.e15-1	p.D557_splice		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	557					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AAAGAACCATCCTGTAAAGCA	0.597000														29			25		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21739650	21739650	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21739650C>T	uc002djh.3	+	18	2106	c.2105C>T	c.(2104-2106)tCc>tTc	p.S702F	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.S623F|OTOA_uc002dji.3_Missense_Mutation_p.S378F|OTOA_uc010vbk.2_Missense_Mutation_p.S350F	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	716					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AGGGGGATCTCCCCCAGGGCT	0.577000														54			18		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	23029766	23029766	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:23029766G>A	uc021wml.1	+	180		c.9725_splice	c.e180-1		abParts_uc021wmm.1_Intron					Parts of antibodies, mostly variable regions.																		CAAGCAGACAGGGAAGTGAGA	0.517000														55			8		0	0	1	0	0
GFI1	2672	broad.mit.edu	37	1	92948963	92948963	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:92948963G>A	uc001dou.4	-	1	246	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C	GFI1_uc001dov.4_Missense_Mutation_p.R28C|GFI1_uc001dow.4_Missense_Mutation_p.R28C	NM_001127215	NP_005254	Q99684	GFI1_HUMAN	Homo sapiens growth factor independent 1 transcription repressor (GFI1), transcript variant 2, mRNA.	28					negative regulation of NF-kappaB transcription factor activity|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		TTCTCTAAACGGAGGGAATAG	0.647000														26			4		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634652	32634652	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:32634652G>A	uc003zrg.1	-	0	1016	c.926C>T	c.(925-927)tCt>tTt	p.S309F	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.	309					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)		GTTCCACAAAGACTTCTGGCT	0.498000														125			40		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7151403	7151403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:7151403G>A	uc001aoi.3	+	3	481	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GAAACACGAAGAATGGCTAAC	0.353000			T	WWTR1	epitheliod hemangioendothelioma									57			27		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160961164	160961164	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:160961164C>T	uc003qtl.3	-	36	5766	c.5646G>A	c.(5644-5646)gtG>gtA	p.V1882V		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4390	Kringle 17.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATTCGAGGTTCACTTCTTGGT	0.473000														43			39		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40412184	40412184	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40412184G>A	uc002omp.4	-	6	3452	c.3444C>T	c.(3442-3444)ggC>ggT	p.G1148G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1148	Cys-rich.|TIL 2.					extracellular region	protein binding	p.G1148S(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACAGCGGGCAGCCGTAGGAAC	0.612000														55			16		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38877381	38877381	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38877381G>A	uc021yzh.1	+	64	9710	c.9601G>A	c.(9601-9603)Gag>Aag	p.E3201K	DNAH8_uc003ooe.2_Missense_Mutation_p.E2984K|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGGCCAAGGGAGGCTCTGAT	0.448000														93			36		0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161130934	161130934	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161130934C>T	uc010pkc.2	+	2	881	c.504C>T	c.(502-504)acC>acT	p.T168T	USP21_uc010pkd.2_Silent_p.T168T	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	168					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GACCCCCTACCCTGTTCAGCA	0.607000														65			25		0	0	1	0	0
C19orf59	199675	broad.mit.edu	37	19	7742573	7742573	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7742573G>A	uc002mhh.1	+	1	170	c.145G>A	c.(145-147)Gac>Aac	p.D49N		NM_174918	NP_777578	Q8IX19	MCEM1_HUMAN	Homo sapiens chromosome 19 open reading frame 59 (C19orf59), mRNA.	49						integral to membrane				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						CAAAAATCAGGACCATGCAAA	0.567000											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			17		0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45410347	45410347	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:45410347C>T	uc001rok.1	-	3	914	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	248						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E248K(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GAAAGCACTTCCTTTTCTTTG	0.418000														124			54		0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95557267	95557267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95557267G>A	uc001kjc.4	+	7	1717	c.1381G>A	c.(1381-1383)Gga>Aga	p.G461R	LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Missense_Mutation_p.G413R|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	461					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CATGAAATGGGGAGGCTCCTC	0.443000														72			21		0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100341315	100341315	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:100341315C>T	uc001ygr.3	+	3	500	c.431C>T	c.(430-432)tCg>tTg	p.S144L	EML1_uc010avt.1_Intron|EML1_uc010tww.2_Missense_Mutation_p.S113L|EML1_uc001ygq.3_Missense_Mutation_p.S144L|EML1_uc001ygs.3_Intron	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	127						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	p.S144S(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CTGAATAGATCGACACCAAGG	0.378000														81			25		0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220396532	220396532	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220396532C>T	uc002vlz.3	+	1	1190	c.1016C>T	c.(1015-1017)tCg>tTg	p.S339L	ASIC4_uc010fwi.2_Missense_Mutation_p.S339L|ASIC4_uc010fwj.2_Missense_Mutation_p.S339L|ASIC4_uc002vly.2_Missense_Mutation_p.S339L|ASIC4_uc002vma.3_Missense_Mutation_p.S339L|ASIC4_uc002vmb.3_5'UTR	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	339						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CCGCGGAGCTCGCTGCCCAGC	0.622000														125			24		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32868615	32868615	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:32868615C>T	uc001utx.3	+	59	9187	c.8691C>T	c.(8689-8691)acC>acT	p.T2897T	FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Silent_p.T428T|FRY_uc010tdx.2_Silent_p.T267T	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2897					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCGAGCCCACCTTCACGTCCA	0.557000														74			24		0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596782	97596782	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:97596782C>T	uc003drx.3	+	0	964	c.900C>T	c.(898-900)tcC>tcT	p.S300S	CRYBG3_uc021xbn.1_Silent_p.S300S					RecName: Full=Beta/gamma crystallin domain-containing protein 3;											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AAAGTCATTCCTCAGAAAAAG	0.403000														98			9		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110474031	110474031	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110474031G>A	uc003yne.3	+	47	7381	c.7277G>A	c.(7276-7278)gGa>gAa	p.G2426E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2426					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TGTCTCCAAGGAAAGTTTGGA	0.368000										HNSCC(38;0.096)				21			5		0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170327882	170327882	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:170327882G>A	uc003isd.2	-	31	3817	c.3239C>T	c.(3238-3240)tCa>tTa	p.S1080L	NEK1_uc003ise.2_Missense_Mutation_p.S1036L|NEK1_uc003isb.2_Missense_Mutation_p.S1052L|NEK1_uc003isc.2_Missense_Mutation_p.S1008L|NEK1_uc003isf.2_Missense_Mutation_p.S983L	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	1052					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ATCTGGAAGTGAACATGTCCT	0.313000														41			23		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31914822	31914822	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31914822G>A	uc003nyj.4	+	2	615	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	CFB_uc011dor.2_Missense_Mutation_p.E615K|CFB_uc011dos.1_3'UTR|CFB_uc003nyi.2_Missense_Mutation_p.E113K	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	113	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.G112G(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CGAGAACGGGGAATACTGGCC	0.532000														61			29		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197189858	197189858	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:197189858C>T	uc002utm.1	-	5	770	c.587G>A	c.(586-588)gGg>gAg	p.G196E	HECW2_uc002utl.1_Intron	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	196	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.G196W(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TTTCTTTAGCCCAACTGCCCT	0.498000														91			41		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328431	57328431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57328431G>A	uc002qnu.2	-	6	1730	c.1379C>T	c.(1378-1380)tCg>tTg	p.S460L	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S431L|PEG3_uc002qnv.2_Missense_Mutation_p.S460L|PEG3_uc002qnw.2_Missense_Mutation_p.S336L|PEG3_uc002qnx.2_Missense_Mutation_p.S334L|PEG3_uc010etr.2_Missense_Mutation_p.S460L	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	460					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S460S(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GACACTGAACGACCTCCCACA	0.493000														134			65		0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61824847	61824847	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:61824847G>A	uc010oos.2	+	6	1064	c.982G>A	c.(982-984)Gat>Aat	p.D328N	NFIA_uc001czy.3_Missense_Mutation_p.D275N|NFIA_uc001czw.3_Missense_Mutation_p.D283N|NFIA_uc001czv.3_Missense_Mutation_p.D283N	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	283					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GTCTGTGGAGGATGAAATGGA	0.512000														186			14		0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27941044	27941044	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27941044G>A	uc001boj.3	-	8	1292	c.1146C>T	c.(1144-1146)gaC>gaT	p.D382D	FGR_uc001boi.3_Silent_p.D85D|FGR_uc001bok.3_Silent_p.D382D|FGR_uc001bol.3_Silent_p.D382D|FGR_uc001bom.3_Silent_p.D382D	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	382	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTGCCCTCAGGTCGCGGTGAA	0.582000														25			10		0	0	1	0	0
SLC2A2	6514	broad.mit.edu	37	3	170720368	170720368	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:170720368G>A	uc003fhe.1	-	7	1374	c.1065C>T	c.(1063-1065)gtC>gtT	p.V355V	SLC2A2_uc003fhf.1_Silent_p.V182V|SLC2A2_uc011bpu.1_Silent_p.V228V	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	355					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GACTTACAGAGACAGCAGTGA	0.428000														32			12		0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696209	10696209	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:10696209G>A	uc002kos.2	-	42	6888	c.6714C>T	c.(6712-6714)ctC>ctT	p.L2238L	PIEZO2_uc002koq.3_Silent_p.L93L	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2238						integral to membrane	ion channel activity										CAAACTGAATGAGGACCATCA	0.512000														53			20		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107013088	107013088	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:107013088G>A	uc021ser.1	-	218		c.8788C>T								Parts of antibodies, mostly variable regions.																		TGCTTCTAATGAAACCTACCC	0.507000														99			40		0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29395302	29395302	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29395302G>A	uc003nmg.3	-	0	208	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily A, member 1 (OR11A1), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CTATGATGATGAAGACATAGA	0.403000														53			32		0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8757435	8757435	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8757435G>A	uc001qur.2	-	3	590	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	AICDA_uc001qup.1_Missense_Mutation_p.R156C|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	171					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CTGGAGAGACGAACTGAATTT	0.368000														160			36		0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94185045	94185045	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94185045C>T	uc003uni.4	+	17	2596	c.2369C>T	c.(2368-2370)tCc>tTc	p.S790F	CASD1_uc003unj.4_Missense_Mutation_p.S790F	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	790						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATCTTATCATCCATTCAAGAT	0.338000														81			34		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129921147	129921147	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:129921147G>A	uc001lke.3	-	3	480	c.285C>T	c.(283-285)ttC>ttT	p.F95F	MKI67_uc001lkf.3_Silent_p.F95F|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	95					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)				TTACCTACCTGAAGGAACGAT	0.353000														44			8		0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116633463	116633463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:116633463G>A	uc001ppn.3	-	3	876	c.842C>T	c.(841-843)tCc>tTc	p.S281F	BUD13_uc001ppo.3_Intron|BUD13_uc009yzc.3_Missense_Mutation_p.S281F	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	281										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TCTGGGCAGGGAATAAGTGAC	0.512000														112			64		0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761768	55761768	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55761768A>G	uc010riv.2	-	0	334	c.334T>C	c.(334-336)Tgc>Cgc	p.C112R		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AAGAGGATGCATTCGGTTGTC	0.473000														127			44		0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113818501	113818501	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113818501G>A	uc002tis.3	+	2	235	c.102G>A	c.(100-102)ggG>ggA	p.G34G	IL36RN_uc002tit.3_Silent_p.G34G	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA.	34						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TGCATGCAGGGAAGGTCATTA	0.483000														43			11		0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24621549	24621549	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:24621549C>T	uc002zzp.4	-	8	1718	c.1301G>A	c.(1300-1302)cGa>cAa	p.R434Q	GGT5_uc002zzo.4_Missense_Mutation_p.R434Q|GGT5_uc002zzr.4_Missense_Mutation_p.R402Q|GGT5_uc002zzq.4_Missense_Mutation_p.R402Q|GGT5_uc011ajm.2_Missense_Mutation_p.R357Q	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	434					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCGGGGGCATCGCTCGCATAA	0.647000														33			8		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61621019	61621019	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61621019C>T	uc002jay.3	+	9	2311	c.2231C>T	c.(2230-2232)tCa>tTa	p.S744L	KCNH6_uc010wpl.2_Missense_Mutation_p.S621L|KCNH6_uc010wpm.2_Missense_Mutation_p.S744L|KCNH6_uc002jaz.1_Missense_Mutation_p.S691L	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	744					regulation of transcription, DNA-dependent|signal transduction			p.S744A(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GACAACCAGTCAGGTGAGCAA	0.647000														62			28		0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106772153	106772153	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:106772153C>T	uc001tlp.3	+	7	827	c.605C>T	c.(604-606)tCa>tTa	p.S202L	POLR3B_uc001tlq.3_Missense_Mutation_p.S144L	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	202					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTTGGAGCTTCAGTTACCAGG	0.408000														102			50		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587646	55587646	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55587646G>A	uc010rin.2	+	0	541	c.541G>A	c.(541-543)Gag>Aag	p.E181K		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E181E(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTTCTTCTGTGAGTTCTCCTC	0.428000														135			46		0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13112081	13112081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:13112081G>A	uc010mhy.3	-	40	5636	c.5579C>T	c.(5578-5580)cCt>cTt	p.P1860L	MPDZ_uc003zkx.4_Intron|MPDZ_uc003zky.4_Missense_Mutation_p.P423L|MPDZ_uc010mib.3_Missense_Mutation_p.P594L|MPDZ_uc010mhx.3_Missense_Mutation_p.P711L|MPDZ_uc011lmm.2_Missense_Mutation_p.P748L|MPDZ_uc003zkz.4_Missense_Mutation_p.P582L|MPDZ_uc010mhz.3_Missense_Mutation_p.P1856L|MPDZ_uc011lmn.2_Missense_Mutation_p.P1827L|MPDZ_uc003zlb.4_Missense_Mutation_p.P1860L	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1889					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AATAAATATAGGCACATCACC	0.473000														23			14		0	0	1	0	0
UCP1	7350	broad.mit.edu	37	4	141484541	141484541	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:141484541G>A	uc011chj.2	-	2	533	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	UCP1_uc011chk.2_Missense_Mutation_p.R152C	NM_021833	NP_068605	P25874	UCP1_HUMAN	Homo sapiens uncoupling protein 1 (mitochondrial, proton carrier) (UCP1), nuclear gene encoding mitochondrial protein, mRNA.	153					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					CCCGTGTAGCGAGGTTTGATT	0.463000														86			47		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97547984	97547984	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:97547984C>T	uc001drv.3	-	21	2946	c.2809G>A	c.(2809-2811)Gaa>Aaa	p.E937K		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	937					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTGCTCAATTCACCAAATGTT	0.363000														144			34		0	0	1	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15352085	15352085	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:15352085C>T	uc002yji.2	-	0		c.681G>A			ANKRD20A11P_uc002yjj.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA.																		GCTCCATCTCCGCGGCGTCGC	0.667000														29			5		0	0	1	0	0
DSN1	79980	broad.mit.edu	37	20	35390870	35390870	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:35390870G>A	uc010gfr.3	-	5	957	c.584C>T	c.(583-585)tCa>tTa	p.S195L	DSN1_uc002xfz.3_Missense_Mutation_p.S195L|DSN1_uc002xfy.4_5'UTR|DSN1_uc010zvs.2_Missense_Mutation_p.S88L|DSN1_uc002xga.3_Missense_Mutation_p.S195L|DSN1_uc002xgc.3_Missense_Mutation_p.S179L|DSN1_uc002xgb.3_Missense_Mutation_p.S179L	NM_001145316	NP_001138790	Q9H410	DSN1_HUMAN	Homo sapiens DSN1, MIND kinetochore complex component, homolog (S. cerevisiae) (DSN1), transcript variant 1, mRNA.	195					cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TTACCCATTTGAATCTTCAAA	0.423000														41			13		0	0	1	0	0
CCDC77	84318	broad.mit.edu	37	12	549866	549866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:549866C>T	uc001qig.3	+	10	1305	c.1125C>T	c.(1123-1125)gcC>gcT	p.A375A	CCDC77_uc009zdk.3_Silent_p.A343A|CCDC77_uc010sdp.2_Silent_p.A343A|CCDC77_uc010sdq.2_Silent_p.A343A	NM_032358	NP_001123620	Q9BR77	CCD77_HUMAN	Homo sapiens coiled-coil domain containing 77 (CCDC77), transcript variant 1, mRNA.	375						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AAGAACTTGCCCGAATTCGTG	0.433000														67			20		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90024714	90024714	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:90024714G>A	uc003kju.3	+	48	10486	c.10390G>A	c.(10390-10392)Gat>Aat	p.D3464N	GPR98_uc003kjt.3_Missense_Mutation_p.D1170N|GPR98_uc003kjv.3_Missense_Mutation_p.D1064N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3464					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCAGCCAATGATATTTACCT	0.353000														28			15		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34038291	34038291	+	Splice_Site	SNP	G	A	A	rs139241831		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34038291G>A	uc001bxm.1	-	50	7754	c.7577_splice	c.e50-1	p.A2526_splice	CSMD2_uc001bxn.1_Splice_Site_p.A2528_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2528	Sushi 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACAGGAAAGAGCTAGCAAAAG	0.448000														63			15		0	0	1	0	0
C20orf118	140711	broad.mit.edu	37	20	35504607	35504607	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:35504607G>A	uc002xgg.1	+	0	38	c.30G>A	c.(28-30)cgG>cgA	p.R10R	C20orf118_uc021wcz.1_Silent_p.R10R	NM_080628	NP_542195	A0PJX2	CT118_HUMAN	Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA.	10										kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	9		Myeloproliferative disorder(115;0.00874)				GTTACACTCGGCTGGTAAGGG	0.637000														132			13		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130285592	130285592	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130285592C>T	uc010htl.3	+	3	1360	c.1329C>T	c.(1327-1329)ggC>ggT	p.G443G		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	443	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTATCGATGGCTCAGGGAGCA	0.478000														43			9		0	0	1	0	0
TUBG1	7283	broad.mit.edu	37	17	40762196	40762196	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:40762196C>T	uc002ian.3	+	1	518	c.120C>T	c.(118-120)ttC>ttT	p.F40F	FAM134C_uc002ial.2_5'Flank|FAM134C_uc010wgq.1_5'Flank|FAM134C_uc002iam.1_5'Flank|FAM134C_uc010cyk.1_Intron	NM_001070	NP_001061	P23258	TBG1_HUMAN	Homo sapiens tubulin, gamma 1 (TUBG1), mRNA.	40					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TGGAGGAGTTCGCCACCGAGG	0.657000														76			45		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958995	54958995	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:54958995G>A	uc003dhl.3	-	1	389	c.255C>T	c.(253-255)tcC>tcT	p.S85S	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	85						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GATTTGAAAGGGAATTGTTGG	0.448000														32			14		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916090	42916090	+	Missense_Mutation	SNP	G	A	A	rs150584658		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42916090G>A	uc003cmh.3	-	0	1544	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	407					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)		TTGAGGAAGCGATCGTACTTG	0.557000														186			66		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108202275	108202275	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:108202275C>T	uc001pkb.1	+	50	8005	c.7620C>T	c.(7618-7620)gtC>gtT	p.V2540V	ATM_uc009yxr.1_Silent_p.V2540V|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Non-coding_Transcript|ATM_uc001pke.2_Silent_p.V1192V|ATM_uc001pkg.1_Silent_p.V897V	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2540	FAT.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTCATGAAGTCCTCAATAATG	0.313000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				65			19		0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50776819	50776819	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:50776819G>A	uc002xwl.3	-	4	955	c.606C>T	c.(604-606)ccC>ccT	p.P202P	ZFP64_uc002xwk.3_Silent_p.P202P|ZFP64_uc002xwm.3_Silent_p.P200P|ZFP64_uc002xwn.3_Silent_p.P148P	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TACACTTGTAGGGCTTCACGC	0.547000														104			51		0	0	1	0	0
KLK12	43849	broad.mit.edu	37	19	51535261	51535261	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51535261G>A	uc002pvh.1	-	3	445	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	KLK12_uc002pvg.1_Missense_Mutation_p.R110W|KLK12_uc010ycp.1_Non-coding_Transcript|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvi.1_Missense_Mutation_p.R110W|KLK12_uc002pvj.1_Intron	NM_019598	NP_062544	Q9UKR0	KLK12_HUMAN	Homo sapiens kallikrein-related peptidase 12 (KLK12), transcript variant 1, mRNA.	110	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)		CGCAGCAGCCGGAGGTCGTGC	0.682000														20			10		0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135975712	135975712	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135975712G>A	uc004cco.3	-	16	2532	c.2512C>T	c.(2512-2514)Ctg>Ttg	p.L838L	RALGDS_uc004ccn.3_Silent_p.L26L|RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Silent_p.L826L|RALGDS_uc004ccr.3_Silent_p.L837L|RALGDS_uc011mcv.2_Silent_p.L809L|RALGDS_uc004ccs.3_Silent_p.L783L|RALGDS_uc011mcw.2_Silent_p.L909L|RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccv.1_3'UTR|RALGDS_uc004ccu.1_3'UTR	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	838	Ras-associating.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TCCTCCTCCAGGTTGTGTTTG	0.597000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									200			122		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594435	123594435	+	Missense_Mutation	SNP	C	T	T	rs141109529		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:123594435C>T	uc003vle.3	+	2	1250	c.811C>T	c.(811-813)Cct>Tct	p.P271S	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.P271S|SPAM1_uc022aks.1_Missense_Mutation_p.P271S|SPAM1_uc003vlf.4_Missense_Mutation_p.P271S|SPAM1_uc010lku.3_Missense_Mutation_p.P271S	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	271					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)	TCAGCAGTCTCCTGTAGCTGC	0.413000														110			40		0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7864234	7864234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7864234C>T	uc001qtf.3	+	0	146	c.68C>T	c.(67-69)tCc>tTc	p.S23F		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	23						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GAAGAAAATTCCCGGGACGAT	0.468000														32			19		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86010787	86010787	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:86010787C>T	uc003dql.3	+	6	939	c.939C>T	c.(937-939)ctC>ctT	p.L313L	CADM2_uc003dqj.3_Silent_p.L311L|CADM2_uc003dqk.3_Silent_p.L320L|CADM2_uc003dqm.2_Silent_p.L203L|CADM2_uc021xay.1_Silent_p.L203L|CADM2_uc021xaz.1_Silent_p.L203L|CADM2_uc021xba.1_Silent_p.L203L	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	311					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AATATGTTCTCATTGTGCATG	0.348000														82			21		0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27463978	27463978	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:27463978C>T	uc003xfy.2	-	3	490	c.343G>A	c.(343-345)Gag>Aag	p.E115K	CLU_uc003xfw.2_Missense_Mutation_p.E104K|CLU_uc003xfx.2_Missense_Mutation_p.E104K|CLU_uc003xfz.2_Missense_Mutation_p.E104K	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	104					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		ATCATGGTCTCATTGCACACT	0.552000														145			51		0	0	1	0	0
TCRBV21S1	0	broad.mit.edu	37	7	142223992	142223992	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142223992C>T	uc003vyi.2	-	1	192	c.175G>A	c.(175-177)Gga>Aga	p.G59R	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GGGCCCTGTCCCAGGATCTGC	0.488000														65			23		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37603235	37603235	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:37603235C>T	uc002yvg.3	+	13	2232	c.2153C>T	c.(2152-2154)tCg>tTg	p.S718L	DOPEY2_uc011aeb.2_Missense_Mutation_p.S718L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	718					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						CCATCGTCTTCGCCCAGCAGC	0.552000														44			20		0	0	1	0	0
TMEM242	729515	broad.mit.edu	37	6	157743827	157743827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:157743827G>A	uc003sih.4	-	1	821	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_018452	NP_060922	Q9NWH2	CF035_HUMAN	Homo sapiens transmembrane protein 242 (TMEM242), mRNA.	33						integral to membrane											CGGTACCAAGGAAAATTCCAC	0.373000														67			53		0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69727233	69727233	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:69727233C>T	uc002exm.2	+	11	3787	c.3451C>T	c.(3451-3453)Cag>Tag	p.Q1151*	NFAT5_uc002exj.2_Nonsense_Mutation_p.Q1075*|NFAT5_uc002exk.2_Nonsense_Mutation_p.Q1075*|NFAT5_uc002exl.2_Nonsense_Mutation_p.Q1169*|NFAT5_uc002exn.2_Nonsense_Mutation_p.Q1168*|NFAT5_uc002exo.2_Non-coding_Transcript|NFAT5_uc002exi.3_Nonsense_Mutation_p.Q1075*	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	1151					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GAATAATCTTCAGACTAACAC	0.428000														152			68		0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93588254	93588254	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:93588254G>A	uc010urc.2	-	3	1582	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	RGMA_uc002bsq.2_Silent_p.L427L|RGMA_uc021svs.1_Silent_p.L427L|RGMA_uc021svt.1_Silent_p.L427L|RGMA_uc010boi.2_Silent_p.L334L|RGMA_uc002bsr.2_Silent_p.L334L|RGMA_uc021svu.1_Silent_p.L427L|RGMA_uc002bss.2_Silent_p.L443L	NM_001166283	NP_001159761	Q96B86	RGMA_HUMAN	Homo sapiens RGM domain family, member A (RGMA), transcript variant 1, mRNA.	443					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			AGCAGGGCCAGGAGCGGGACG	0.716000														14			13		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117691445	117691445	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117691445C>T	uc001twn.2	-	17	3459	c.2748G>A	c.(2746-2748)gtG>gtA	p.V916V	NOS1_uc021ren.1_Silent_p.V546V|NOS1_uc021reo.1_Silent_p.V546V|NOS1_uc001twm.2_Silent_p.V882V	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	882	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTGCTCACCTCACATTGGCCA	0.557000														78			23		0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33016598	33016598	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:33016598G>A	uc010abe.1	-	6	2098	c.2076C>T	c.(2074-2076)tcC>tcT	p.S692S	N4BP2L2_uc001uug.2_Silent_p.S575S|N4BP2L2_uc010abd.1_Silent_p.S605S|N4BP2L2_uc001uuh.2_Silent_p.S523S|N4BP2L2_uc001uuj.2_Silent_p.S111S|N4BP2L2_uc010tdz.1_Silent_p.S677S	NM_033111	NP_149102	Q92802	N42L2_HUMAN	Homo sapiens NEDD4 binding protein 2-like 2 (N4BP2L2), transcript variant 1, mRNA.	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTAGCTCAAGGGAACGGTAGT	0.393000														22			7		0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131923622	131923622	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:131923622C>T	uc003kxi.3	+	6	1293	c.892C>T	c.(892-894)Caa>Taa	p.Q298*	RAD50_uc003kxh.3_Nonsense_Mutation_p.Q159*	NM_005732	NP_005723	Q92878	RAD50_HUMAN	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.	298					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAGGTTTTTCAAGGGACTGA	0.323000								Homologous recombination						55			25		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121301912	121301912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:121301912G>A	uc003yox.3	+	33	4408	c.4143G>A	c.(4141-4143)aaG>aaA	p.K1381K	COL14A1_uc003yoz.3_Silent_p.K346K	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1381	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGGGTGAGAAGGCAATGAACG	0.438000														67			36		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79024751	79024751	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:79024751G>A	uc003kgc.3	+	1	235	c.163G>A	c.(163-165)Gat>Aat	p.D55N		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	55	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATCAGACCAGGATGAAGAGGG	0.323000														31			17		0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101153442	101153442	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:101153442G>A	uc003yjd.3	-	1	1776	c.1040C>T	c.(1039-1041)tCc>tTc	p.S347F	FBXO43_uc003yje.3_Missense_Mutation_p.S313F|FBXO43_uc010mbp.2_Missense_Mutation_p.S347F	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	347					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GTCAGACAGGGAATCTTCTGA	0.443000														91			40		0	0	1	0	0
NACA2	342538	broad.mit.edu	37	17	59668441	59668441	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:59668441G>A	uc002izj.2	-	0	123	c.101C>T	c.(100-102)tCa>tTa	p.S34L		NM_199290	NP_954984	Q9H009	NACA2_HUMAN	Homo sapiens nascent polypeptide-associated complex alpha subunit 2 (NACA2), mRNA.	34					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CCCTGGTACTGATTCACCACT	0.542000														86			36		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85382937	85382937	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:85382937C>T	uc002ble.3	+	4	1200	c.1033C>T	c.(1033-1035)Cga>Tga	p.R345*		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	345	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.C344Y(1)		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)			CTCTAGGTGTCGAGAAGAAGA	0.632000														93			25		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106526727	106526727	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:106526727A>G	uc003vdv.4	+	9	3105	c.3020A>G	c.(3019-3021)cAg>cGg	p.Q1007R	PIK3CG_uc003vdu.3_Missense_Mutation_p.Q1007R|PIK3CG_uc003vdw.3_Missense_Mutation_p.Q1007R	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	1007	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCACACTTCCAGAAATTTCAG	0.493000														48			24		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644414	169644414	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:169644414C>T	uc003fgd.3	+	5	631	c.364C>T	c.(364-366)Cta>Tta	p.L122L	SAMD7_uc003fge.3_Silent_p.L122L|SAMD7_uc011bpo.2_Silent_p.L23L	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	122										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			ACTAGCAGGCCTAGGGATACC	0.468000														68			35		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41008721	41008721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41008721G>A	uc003jmj.4	-	32	4085	c.3595C>T	c.(3595-3597)Cca>Tca	p.P1199S	HEATR7B2_uc003jmi.4_Missense_Mutation_p.P754S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1199							binding	p.P1199S(2)		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						CAGGGGTCTGGGATCTGCTGC	0.567000														47			26		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126328049	126328049	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126328049C>T	uc003ifj.4	+	2	5322	c.5322C>T	c.(5320-5322)ctC>ctT	p.L1774L	FAT4_uc011cgp.2_Silent_p.L72L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1774	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAAATGCTCTCGTCACATACA	0.433000														104			31		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62687998	62687998	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:62687998C>T	uc003peg.2	-	3	703	c.456G>A	c.(454-456)ttG>ttA	p.L152L		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TAATCTCTTCCAATGCATGAC	0.373000														97			29		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202710650	202710650	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:202710650G>A	uc009xag.3	-	19	3014	c.2898C>T	c.(2896-2898)ccC>ccT	p.P966P	KDM5B_uc001gyf.3_Silent_p.P930P|KDM5B_uc001gyg.1_Silent_p.P772P	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	930					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TAAGGGAGCTGGGGTCTAGGC	0.522000														41			22		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54746066	54746066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54746066C>T	uc010erh.1	-	2	315	c.191G>A	c.(190-192)gGa>gAa	p.G64E	LILRB3_uc002qew.2_Missense_Mutation_p.G64E|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.G64E|LILRB3_uc002qeh.1_Missense_Mutation_p.G64E|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.G64E|LILRB3_uc002qek.1_Missense_Mutation_p.G64E|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Missense_Mutation_p.G64E|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.G64E|LILRB3_uc002qep.1_Missense_Mutation_p.G64E|LILRB3_uc002qeq.1_Missense_Mutation_p.G64E|LILRB3_uc010yep.1_Missense_Mutation_p.G64E|LILRB3_uc010yeq.1_Missense_Mutation_p.G64E|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.G64E|LILRB3_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	64	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTCTGGGCTTCCCTCTTTATC	0.587000														355			79		0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29398864	29398864	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:29398864G>A	uc001zck.3	+	10	1963	c.1759G>A	c.(1759-1761)Ggc>Agc	p.G587S	APBA2_uc010azj.2_Missense_Mutation_p.G575S|APBA2_uc010uat.2_Missense_Mutation_p.G575S|APBA2_uc001zcl.3_Missense_Mutation_p.G575S	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	587	PDZ 1.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGTGGAGTCGGGCTGGGGCTC	0.652000														75			6		0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945668	72945668	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:72945668G>A	uc021qna.1	+	0	464	c.464G>A	c.(463-465)gGg>gAg	p.G155E	P2RY2_uc001otk.3_Missense_Mutation_p.G155E|P2RY2_uc001otj.3_Missense_Mutation_p.G155E|P2RY2_uc001otl.3_Missense_Mutation_p.G155E	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	155					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CGGGTGGCCGGGGCCGTGTGG	0.716000														69			13		0	0	1	0	0
WBP1L	54838	broad.mit.edu	37	10	104572539	104572539	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104572539C>T	uc001kwf.4	+	3	627	c.543C>T	c.(541-543)ccC>ccT	p.P181P	WBP1L_uc009xxg.1_Intron|WBP1L_uc001kwe.4_Silent_p.P160P	NM_001083913	NP_001077382	Q9NX94	OPA1L_HUMAN	Homo sapiens chromosome 10 open reading frame 26 (C10orf26), transcript variant 1, mRNA.	160	Pro-rich.					integral to membrane											AGAGCAGCCCCTTGTCTGAGC	0.647000														32			25		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88380164	88380164	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:88380164G>A	uc001tam.1	-	9	1015	c.847C>T	c.(847-849)Cat>Tat	p.H283Y	C12orf50_uc001tan.3_Missense_Mutation_p.H298Y	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	283										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CCTTTAAAATGAGGCTTCTTC	0.323000														43			18		0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412272	154412272	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:154412272C>T	uc011efe.2	+	4	1631	c.1108C>T	c.(1108-1110)Ctt>Ttt	p.L370F	OPRM1_uc011efd.2_Missense_Mutation_p.L177F|OPRM1_uc011efc.1_Missense_Mutation_p.L196F|OPRM1_uc003qpn.2_Missense_Mutation_p.L277F|OPRM1_uc003qpo.1_Missense_Mutation_p.L277F|OPRM1_uc011eff.1_Missense_Mutation_p.L277F|OPRM1_uc011efg.1_Missense_Mutation_p.L277F|OPRM1_uc011efi.2_Missense_Mutation_p.L277F|OPRM1_uc011efh.1_Missense_Mutation_p.L277F|OPRM1_uc003qpq.1_Missense_Mutation_p.L277F|OPRM1_uc003qpr.2_Missense_Mutation_p.L277F|OPRM1_uc003qpt.1_Missense_Mutation_p.L277F|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.L177F|OPRM1_uc003qpu.2_Missense_Mutation_p.L177F	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	277					behavior|negative regulation of cell proliferation|sensory perception	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.R369C(2)|p.R369H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	GGACAGGAATCTTCGAAGGAT	0.488000														45			36		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124594553	124594553	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124594553C>T	uc001lgs.3	-	8	2002	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	CUZD1_uc001lgp.3_Missense_Mutation_p.E70K|CUZD1_uc009yad.3_Missense_Mutation_p.E70K|CUZD1_uc009yaf.3_5'UTR|CUZD1_uc001lgr.3_Missense_Mutation_p.E70K|CUZD1_uc010qty.2_Missense_Mutation_p.E70K|CUZD1_uc009yae.3_Missense_Mutation_p.E70K|CUZD1_uc010qtz.2_Missense_Mutation_p.E351K	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	351	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GTGATCACTTCAGAAGTTGAG	0.338000														74			30		0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119886646	119886646	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:119886646G>A	uc011bjf.2	-	8	2058	c.1678C>T	c.(1678-1680)Cct>Tct	p.P560S	GPR156_uc011bjg.2_Missense_Mutation_p.P556S	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	560						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GAAGCCTCAGGGCCCAGGCCC	0.587000														117			57		0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46716030	46716030	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:46716030G>A	uc002eef.4	-	2	259	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	VPS35_uc002eed.3_5'Flank|VPS35_uc002eee.3_Missense_Mutation_p.R15W	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	54					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATAGAAGTCCGGAGTTCACCA	0.333000														41			10		0	0	1	0	0
RBP5	83758	broad.mit.edu	37	12	7280989	7280989	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7280989G>A	uc001qsq.3	-	1	194	c.99C>T	c.(97-99)atC>atT	p.I33I	CLSTN3_uc001qsr.3_5'Flank	NM_031491	NP_113679	P82980	RET5_HUMAN	Homo sapiens retinol binding protein 5, cellular (RBP5), mRNA.	33						cytoplasm	retinal binding|retinol binding|transporter activity			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Vitamin A(DB00162)	GCAGCAGCGCGATCTTCCGCA	0.607000														54			14		0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12300456	12300456	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:12300456G>A	uc001rah.4	-	14	3383	c.3241C>T	c.(3241-3243)Cct>Tct	p.P1081S	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.P1081S	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1081	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCAATTTTAGGAGACCTTTCC	0.408000														160			47		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250719	140250719	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140250719C>T	uc003lia.2	+	0	2889	c.2031C>T	c.(2029-2031)gcC>gcT	p.A677A	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_uc011dae.2_Silent_p.A677A	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	687	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)			CGCCAAAGGCCTCTTCCCGGA	0.652000														82			7		0	0	1	0	0
FAM45A	404636	broad.mit.edu	37	X	129629752	129629752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:129629752G>A	uc010nrh.3	+	0	838	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	BC043223_uc004evu.3_Intron	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	207										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		GTGTGGCACCGACAGGACTGG	0.537000														36			18		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47882631	47882631	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:47882631G>A	uc003tny.2	-	33	5408	c.5374C>T	c.(5374-5376)Ctg>Ttg	p.L1792L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1792					cell-cell adhesion	integral to membrane		p.L1792L(3)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGGCCCGGCAGGGAAGCTTCT	0.478000														45			6		0	0	1	0	0
WDR13	64743	broad.mit.edu	37	X	48458948	48458948	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:48458948C>T	uc004dkj.2	+	4	1270	c.765C>T	c.(763-765)atC>atT	p.I255I	WDR13_uc004dkk.2_Silent_p.I163I|WDR13_uc004dkl.4_Silent_p.I163I|WDR13_uc011mme.2_Silent_p.I133I	NM_017883	NP_001159898	Q9H1Z4	WDR13_HUMAN	Homo sapiens WD repeat domain 13 (WDR13), transcript variant 1, mRNA.	255						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TCCGAGAGATCCCTGACCCCG	0.597000														8			10		0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20803324	20803324	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20803324G>A	uc010vba.2	+	11	1489	c.1414_splice	c.e11-1	p.D472_splice	ACSM3_uc002dhr.3_Splice_Site_p.D443_splice|ERI2_uc002dhs.3_Intron	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	443					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGTTTTGCAGGATAATCCTTC	0.368000														66			38		0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1149546	1149546	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:1149546C>T	uc009xhm.1	+	9	907	c.734C>T	c.(733-735)tCt>tTt	p.S245F	WDR37_uc001igf.1_Missense_Mutation_p.S244F|WDR37_uc009xhn.1_Non-coding_Transcript|WDR37_uc001igg.1_Non-coding_Transcript	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	Homo sapiens WD repeat domain 37 (WDR37), mRNA.	244										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CAGCAGATATCTGGGGAAGAT	0.498000														38			13		0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22291883	22291883	+	Nonsense_Mutation	SNP	C	T	T	rs146341538		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:22291883C>T	uc001mqi.2	+	17	2241	c.1924C>T	c.(1924-1926)Cga>Tga	p.R642*	ANO5_uc001mqj.2_Nonsense_Mutation_p.R641*	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	642						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGGAGACGCCGAAAAGCTCG	0.418000														81			22		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2924928	2924928	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:2924928G>A	uc003bpc.3	+	8	1091	c.752G>A	c.(751-753)gGa>gAa	p.G251E	CNTN4_uc003bpb.1_Intron|CNTN4_uc021wsg.1_Missense_Mutation_p.G251E|CNTN4_uc003bpd.1_Missense_Mutation_p.G251E	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	251	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTTGCTTTAGGAAAGTAAGTT	0.468000														33			6		0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867339	6867339	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6867339G>A	uc001met.1	+	0	426	c.426G>A	c.(424-426)cgG>cgA	p.R142R		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAAGGACACGGGCCAAACTGG	0.537000														146			40		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10916776	10916776	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10916776C>T	uc003bvz.3	+	5	921	c.887C>T	c.(886-888)cCc>cTc	p.P296L		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	296					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CTCTCCGACCCCCAGGTAAGA	0.592000														73			9		0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71604584	71604584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71604584C>T	uc002fap.2	-	7	1009	c.910G>A	c.(910-912)Gag>Aag	p.E304K		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	304					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	ATTATCACCTCATTGCCAAAA	0.473000														49			16		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171227237	171227237	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171227237G>A	uc009wvz.3	+	1	147	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	FMO1_uc010pme.2_Missense_Mutation_p.R4Q|FMO1_uc001ghl.3_Missense_Mutation_p.R4Q|FMO1_uc001ghm.3_Missense_Mutation_p.R4Q	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	4					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGGCCAAGCGAGTTGCCATT	0.537000														52			21		0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15636352	15636352	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15636352C>T	uc002nbh.4	+	2	372	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	69						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CAACTGGCTGCTGGGCCACCT	0.672000														37			17		0	0	1	0	0
FKRP	79147	broad.mit.edu	37	19	47258815	47258815	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47258815C>T	uc002pfn.2	+	3	405	c.108C>T	c.(106-108)gcC>gcT	p.A36A	FKRP_uc002pfp.2_Silent_p.A36A|FKRP_uc021uwj.1_Silent_p.A36A	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.	36						Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		ATTCCCGGGCCCGGGGGCCCC	0.677000														16			3		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76565478	76565478	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76565478C>T	uc010dhp.2	-	7	1301	c.1176G>A	c.(1174-1176)gtG>gtA	p.V392V	DNAH17_uc002jvv.2_Silent_p.V94V	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTTCATGTTCACGCAGCAGA	0.522000														12			7		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110855942	110855942	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:110855942C>T	uc001vqw.4	-	17	1092	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	324	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGACCTGCTTCACCCTTTTCT	0.458000														125			35		0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624786	123624786	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123624786C>T	uc010rzy.2	-	0	441	c.441G>A	c.(439-441)tgG>tgA	p.W147*		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGCCCACCACCCAGGAGCTCA	0.512000														83			21		0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38877616	38877616	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:38877616C>T	uc002ywk.3	+	8	1346	c.1270C>T	c.(1270-1272)Cat>Tat	p.H424Y	DYRK1A_uc002ywi.3_Missense_Mutation_p.H424Y|DYRK1A_uc002ywj.3_Missense_Mutation_p.H415Y|DYRK1A_uc002ywm.3_Missense_Mutation_p.H424Y|DYRK1A_uc011aei.2_Missense_Mutation_p.H185Y	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	424	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCGTAAACTTCATAACATTCT	0.438000														55			36		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650952	94650952	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94650952C>T	uc001dqj.4	-	16	2235	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Silent_p.T188T	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	622					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding	p.T622T(2)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCCTACATTTCGTGGGGGATC	0.398000														95			29		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3432637	3432637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:3432637C>T	uc003ggw.3	+	16	4973	c.4069C>T	c.(4069-4071)Ccg>Tcg	p.P1357S	RGS12_uc003ggv.3_Missense_Mutation_p.P1357S|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.3_Missense_Mutation_p.P709S|RGS12_uc011bvs.2_3'UTR|RGS12_uc003gha.3_Missense_Mutation_p.P699S|RGS12_uc010icv.3_Missense_Mutation_p.P556S	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1357						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	p.P1357L(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACCTTGCTGCCGCCGCCCTC	0.667000														34			14		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140167471	140167471	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:140167471G>A	uc003etn.3	+	5	1088	c.898G>A	c.(898-900)Gag>Aag	p.E300K	CLSTN2_uc003etm.2_Missense_Mutation_p.E300K	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	300					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GATCGTCACAGAGCTGCAGAC	0.527000										HNSCC(16;0.037)				111			40		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180056393	180056393	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:180056393G>A	uc003mlz.4	-	6	930	c.851C>T	c.(850-852)tCc>tTc	p.S284F	FLT4_uc003mma.4_Missense_Mutation_p.S284F|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.2_Missense_Mutation_p.S284F|FLT4_uc011dgz.1_Intron	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	284	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGTCTGCTGGGAGCGTCGCTC	0.657000														35			20		0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58118073	58118073	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58118073C>T	uc002qpk.2	+	2	1400	c.1180C>T	c.(1180-1182)Ctt>Ttt	p.L394F	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_Intron	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAATATCTACCTTATTCACCA	0.423000														98			46		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321967	52321967	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:52321967C>T	uc003xqu.4	-	16	2318	c.2217G>A	c.(2215-2217)caG>caA	p.Q739Q	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	739					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCCACGTGGGCTGCTGCAGGT	0.697000														28			5		0	0	1	0	0
ZNF736	728927	broad.mit.edu	37	7	63809132	63809132	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:63809132C>T	uc011kdo.2	+	4	1213	c.891C>T	c.(889-891)ttC>ttT	p.F297F		NM_001170905	NP_001164376	B4DX44	ZN736_HUMAN	Homo sapiens zinc finger protein 736 (ZNF736), mRNA.	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						ATAGGTGGTTCTCAGACCTTG	0.378000														19			7		0	0	1	0	0
CSE1L	1434	broad.mit.edu	37	20	47700684	47700684	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:47700684C>T	uc002xty.3	+	14	1738	c.1604C>T	c.(1603-1605)cCt>cTt	p.P535L	CSE1L_uc010zyg.2_Missense_Mutation_p.P318L|CSE1L_uc010ghx.3_Missense_Mutation_p.P479L|CSE1L_uc010ghy.3_Intron|CSE1L_uc010zyh.2_Missense_Mutation_p.P184L	NM_001316	NP_001307	P55060	XPO2_HUMAN	Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.	535					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ATGCGAGGGCCTAACAATGCC	0.403000														109			18		0	0	1	0	0
TPSG1	25823	broad.mit.edu	37	16	1272059	1272059	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1272059C>T	uc002ckw.2	-	5	697	c.695G>A	c.(694-696)gGt>gAt	p.G232D		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	Homo sapiens tryptase gamma 1 (TPSG1), mRNA.	232	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				CACCCAGGCACCGTTCACCTG	0.667000														41			17		0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38953243	38953243	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:38953243G>A	uc002hvh.1	-	4	969	c.903C>T	c.(901-903)ttC>ttT	p.F301F		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	301	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GGCTCCGGGCGAAAGTGGCTG	0.657000														50			22		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8180457	8180457	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8180457G>A	uc002mjf.3	-	28	3797	c.3780C>T	c.(3778-3780)tcC>tcT	p.S1260S		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1260	EGF-like 18; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCAGACAAAGGAACCCTTCG	0.612000														43			12		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52200481	52200481	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52200481G>A	uc001ryw.3	+	26	5389	c.5211G>A	c.(5209-5211)ggG>ggA	p.G1737G	SCN8A_uc010snl.2_Silent_p.G1696G	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1737					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GAGATTGTGGGAACCCCTCAG	0.512000														52			25		0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37224179	37224179	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:37224179G>A	uc002hrg.2	-	13	1629	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	LOC100131347_uc002hre.1_Intron|LOC100131347_uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Missense_Mutation_p.R169C|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	473					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGGTGGCTGCGAAACTTCATG	0.617000														40			21		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027525	37027525	+	Missense_Mutation	SNP	G	A	A	rs139443110		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:37027525G>A	uc004ddl.2	+	0	1094	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	348								p.P347P(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGAGCCTCCCGAGACTGGAGT	0.627000														48			61		0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108618544	108618544	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:108618544C>T	uc001tms.3	+	4	1455	c.711C>T	c.(709-711)ttC>ttT	p.F237F	WSCD2_uc001tmt.3_Silent_p.F237F|WSCD2_uc001tmu.3_5'UTR	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	237	WSC 2.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGGGCTGCTTCCGCAGGCCCG	0.532000														93			27		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212745	62212745	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:62212745G>A	uc003xuh.3	+	1	683	c.359G>A	c.(358-360)aGg>aAg	p.R120K	CLVS1_uc003xug.2_Missense_Mutation_p.R120K|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	120	CRAL-TRIO.				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						GGCATTAAGAGGGCTCTGATC	0.502000														42			23		0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44680451	44680451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44680451C>T	uc002oys.3	+	5	1216	c.1036C>T	c.(1036-1038)Cgt>Tgt	p.R346C	ZNF226_uc002oyp.3_Missense_Mutation_p.R346C|ZNF226_uc002oyq.3_Missense_Mutation_p.R229C|ZNF226_uc002oyr.3_Missense_Mutation_p.R229C|ZNF226_uc002oyt.3_Missense_Mutation_p.R346C	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AGGTTTCAGTCGTAGATCAGC	0.463000														93			37		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63680439	63680439	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:63680439C>T	uc011kdn.2	+	3	1010	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TTTAACTGCTCCTCGACTCTT	0.423000														63			21		0	0	1	0	0
C10orf81	79949	broad.mit.edu	37	10	115529650	115529650	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115529650C>T	uc001lat.2	+	5	1087	c.525C>T	c.(523-525)ctC>ctT	p.L175L	C10orf81_uc009xyc.2_Silent_p.L93L|C10orf81_uc001lar.2_Silent_p.L181L|C10orf81_uc001las.2_Silent_p.L93L|C10orf81_uc001lau.2_5'Flank	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	175										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		GAAATGGTCTCCAAGACAAGG	0.473000														101			42		0	0	1	0	0
VCPIP1	80124	broad.mit.edu	37	8	67578798	67578798	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:67578798G>A	uc003xwn.3	-	0	655	c.396C>T	c.(394-396)ccC>ccT	p.P132P	SGK3_uc003xwp.3_5'Flank|C8orf44_uc003xwo.2_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	132					protein ubiquitination	Golgi stack|endoplasmic reticulum	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GAGCTAATATGGGCGACAACA	0.557000														65			27		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340788	121340788	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121340788G>A	uc003eeg.2	+	2	722	c.512G>A	c.(511-513)gGa>gAa	p.G171E		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	171					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAAATGGGAGGAGCAGTGGGT	0.493000														32			16		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143013423	143013423	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143013423G>A	uc003wcr.1	+	0	205	c.118G>A	c.(118-120)Ggg>Agg	p.G40R	CLCN1_uc011ktc.1_5'UTR	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	40					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTCTGAGAATGGGGGCCTCCA	0.607000														131			47		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883252	228883252	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228883252G>A	uc002vpq.2	-	6	2365	c.2318C>T	c.(2317-2319)cCa>cTa	p.P773L	SPHKAP_uc002vpp.2_Missense_Mutation_p.P773L|SPHKAP_uc010zlx.1_Missense_Mutation_p.P773L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	773						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATTGCTAAGTGGAGAGCTGCT	0.502000														130			53		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031688	79031688	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:79031688G>A	uc003kgc.3	+	1	7172	c.7100G>A	c.(7099-7101)aGa>aAa	p.R2367K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2367						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAGAGCCAAGAAGTGATCAA	0.368000														51			17		0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	67022482	67022482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67022482C>T	uc001ojw.3	+	20	4309	c.3445C>T	c.(3445-3447)Ctc>Ttc	p.L1149F	KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Missense_Mutation_p.L843F|KDM2A_uc010rpn.2_Missense_Mutation_p.L710F|KDM2A_uc001ojz.1_3'UTR|KDM2A_uc001oka.3_Missense_Mutation_p.L273F|KDM2A_uc021qme.1_Non-coding_Transcript	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	1149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CATCAACAGCCTCTACTGCCT	0.532000														12			3		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994983	140994983	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140994983G>A	uc004fbt.3	+	3	2117	c.1793G>A	c.(1792-1794)aGc>aAc	p.S598N	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S257N	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	598							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)					TTTCCTCAGAGCCCTCCTCAG	0.587000										HNSCC(15;0.026)				160			215		0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95610021	95610021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:95610021G>A	uc004asu.1	-	4	1197	c.1048C>T	c.(1048-1050)Cat>Tat	p.H350Y	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.H352Y|ZNF484_uc004asv.1_Missense_Mutation_p.H314Y|ZNF484_uc010mrb.1_Missense_Mutation_p.H314Y	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCTCCAGAATGAATTCTCTGG	0.368000														42			15		0	0	1	0	0
GBP3	2635	broad.mit.edu	37	1	89477649	89477649	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:89477649C>T	uc001dmt.3	-	6	1135	c.930G>A	c.(928-930)atG>atA	p.M310I	GBP3_uc010oss.2_Missense_Mutation_p.M231I|GBP3_uc001dmu.3_Missense_Mutation_p.M176I|GBP3_uc001dmv.3_Intron|GBP3_uc021opp.1_Missense_Mutation_p.M310I	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	310						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CTGCGTTCTCCATGCAGGGCA	0.498000														49			27		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139653178	139653178	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:139653178C>T	uc011kqv.2	+	6	838	c.603C>T	c.(601-603)ctC>ctT	p.L201L	TBXAS1_uc003vvh.3_Silent_p.L155L|TBXAS1_uc010lne.3_Silent_p.L87L|TBXAS1_uc011kqu.2_Silent_p.L106L|TBXAS1_uc003vvi.3_Silent_p.L155L|TBXAS1_uc011kqw.2_Silent_p.L135L|TBXAS1_uc003vvj.3_Silent_p.L155L	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	154					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					TGGTTCCCCTCATCAGCCAAG	0.473000														80			23		0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127961109	127961109	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:127961109C>T	uc002tod.2	-	1	148	c.17G>A	c.(16-18)aGa>aAa	p.R6K	CYP27C1_uc021vnn.1_Missense_Mutation_p.R6K	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	6						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		AATTCTTTGTCTCAATACGCT	0.398000														187			24		0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19209673	19209673	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:19209673G>A	uc001bbb.3	-	6	899	c.623C>T	c.(622-624)tCg>tTg	p.S208L	ALDH4A1_uc010ocu.2_Missense_Mutation_p.S148L|ALDH4A1_uc001bbc.3_Missense_Mutation_p.S208L|ALDH4A1_uc021ohl.1_Missense_Mutation_p.S208L	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	208					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	GTTAAAGGGCGAGATGGCCGC	0.672000														65			32		0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17743770	17743770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:17743770G>A	uc011mix.2	+	6	1882	c.1544G>A	c.(1543-1545)gGg>gAg	p.G515E	NHS_uc004cxx.3_Missense_Mutation_p.G494E|NHS_uc004cxy.3_Missense_Mutation_p.G338E|NHS_uc004cxz.3_Missense_Mutation_p.G317E|NHS_uc004cya.3_Missense_Mutation_p.G217E	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	494						nucleus		p.G515C(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AATAGAGGTGGGGATGCTGAG	0.512000														42			22		0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102737123	102737123	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102737123G>A	uc001phk.3	-	7	1062	c.965C>T	c.(964-966)tCc>tTc	p.S322F		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	323	Hemopexin-like 1.				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGGCCATAAGGAAGAAATTAA	0.358000														15			7		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319497	21319497	+	Silent	SNP	C	T	T	rs139358757	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:21319497C>T	uc021tss.1	+	2	1213	c.843C>T	c.(841-843)ttC>ttT	p.F281F	KCNJ18_uc002gyv.1_Silent_p.F281F|KCNJ18_uc021tst.1_Silent_p.F281F	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	281						integral to membrane	inward rectifier potassium channel activity	p.F281F(1)									GCCCGCTCTTCGGCATCAGCC	0.607000														66			10		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111441412	111441412	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:111441412C>T	uc003iab.4	+	9	1959	c.1617C>T	c.(1615-1617)acC>acT	p.T539T		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	539					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ACACCTGGACCAGACAGATGG	0.403000														77			30		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103908622	103908622	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:103908622C>T	uc001kum.3	+	11	4705	c.4666C>T	c.(4666-4668)Cga>Tga	p.R1556*	PPRC1_uc001kun.3_Nonsense_Mutation_p.R1434*|PPRC1_uc010qqj.2_Nonsense_Mutation_p.R1292*|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1556	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCGCATGACTCGATCAGAGCT	0.488000														42			23		0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72723336	72723336	+	Missense_Mutation	SNP	G	A	A	rs140390474		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:72723336G>A	uc004ahm.2	+	2	975	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	120	MAM 1.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GTCAGCTAAGGAACCTTCAGA	0.438000														54			18		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2595311	2595311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2595311C>T	uc009zdu.1	+	5	1112	c.799C>T	c.(799-801)Ccc>Tcc	p.P267S	CACNA1C_uc001qkc.2_Missense_Mutation_p.P267S|CACNA1C_uc001qjz.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkd.2_Missense_Mutation_p.P267S|CACNA1C_uc001qke.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkf.2_Missense_Mutation_p.P267S|CACNA1C_uc009zdw.1_Missense_Mutation_p.P267S|CACNA1C_uc001qkg.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkh.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkl.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkj.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkk.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkn.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkm.2_Missense_Mutation_p.P267S|CACNA1C_uc001qko.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkp.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkq.2_Missense_Mutation_p.P267S|CACNA1C_uc001qku.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkr.2_Missense_Mutation_p.P267S|CACNA1C_uc001qks.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkt.2_Missense_Mutation_p.P267S|CACNA1C_uc009zdv.1_Missense_Mutation_p.P267S|CACNA1C_uc001qkb.2_Missense_Mutation_p.P267S|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Missense_Mutation_p.P3S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	267					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.L266L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGCCATGGTCCCCCTGCTGCA	0.562000														21			5		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171173122	171173122	+	Missense_Mutation	SNP	G	A	A	rs147029269	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171173122G>A	uc001ghk.1	+	5	863	c.746G>A	c.(745-747)cGa>cAa	p.R249Q	FMO2_uc010pmd.1_Missense_Mutation_p.R29Q	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	249					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTACTGCCACGAACAGCTGTA	0.453000														61			22		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220333389	220333389	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220333389G>A	uc010fwg.3	+	10	3232	c.3232G>A	c.(3232-3234)Ggc>Agc	p.G1078S		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1078	Ig-like 5.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGTGTTGGAGGGCCGAGCTGC	0.637000														53			31		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45387220	45387220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45387220C>T	uc001zun.3	-	31	4512	c.4309G>A	c.(4309-4311)Gag>Aag	p.E1437K	DUOX2_uc010bea.3_Missense_Mutation_p.E1437K	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1437					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCGTTCTCCTCCACCTCTTGG	0.567000														47			23		0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176982108	176982108	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:176982108C>T	uc002ukj.3	+	0	617	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	183						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCTCAACCCTCGTGGCGCGGC	0.582000														86			27		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92590421	92590422	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92590421_92590422CC>TT	uc001pdj.4	+	18	11424_11425	c.11407_11408CC>TT	c.(11407-11409)ccg>TTg	p.P3803L	FAT3_uc001pdi.4_Missense_Mutation_p.P243L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3803	EGF-like 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTGGAGAAGCCGTGTCCAGGG	0.559000										TCGA Ovarian(4;0.039)				79			24		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65678963	65678963	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65678963G>A	uc002aou.1	-	16	3087	c.2877C>T	c.(2875-2877)atC>atT	p.I959I	IGDCC4_uc002aot.1_Silent_p.I547I	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	959						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CACCCACGATGATGCCCGTGA	0.637000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			15		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70017060	70017060	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70017060G>A	uc001opj.3	+	21	2570	c.2265G>A	c.(2263-2265)ctG>ctA	p.L755L	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc010rqk.2_Silent_p.L464L|ANO1_uc010rql.1_5'UTR	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	755					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TTGCGCTGCTGAACAACATCA	0.582000														19			4		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36118737	36118737	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:36118737C>A	uc003gsq.2	-	24	4322	c.3984G>T	c.(3982-3984)ttG>ttT	p.L1328F		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1328	Ras-associating.				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						CTTCAATTAACAAATCTCCAG	0.363000														34			7		0.00198382	0.00198522	1	1	0
WDR89	112840	broad.mit.edu	37	14	64066610	64066611	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:64066610_64066611GG>AA	uc021ruf.1	-	0	50_51	c.50_51CC>TT	c.(49-51)tcc>tTT	p.S17F	WDR89_uc001xgh.3_Missense_Mutation_p.S17F|WDR89_uc001xgi.3_Missense_Mutation_p.S17F	NM_080666	NP_542397	Q96FK6	WDR89_HUMAN	Homo sapiens WD repeat domain 89 (WDR89), transcript variant 2, mRNA.	17										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		TGGTTCCTAAGGAACATTTAAC	0.361000														117			8		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48615797	48615797	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48615797C>T	uc003ctz.2	-	64	5489	c.5488_splice	c.e64-1	p.G1830_splice		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1830	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCTGGCTTTCCCTGTGGGAA	0.562000														76			28		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229058	21229058	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21229058G>A	uc002red.3	-	25	10810	c.10682C>T	c.(10681-10683)tCc>tTc	p.S3561F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3561					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTCCCAGAGGGAATATATGCG	0.458000														58			22		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104643604	104643604	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:104643604C>T	uc001yos.4	+	11	4479	c.4479C>T	c.(4477-4479)ccC>ccT	p.P1493P		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	1493					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCCCCAAGCCCCCTGTTGGTG	0.706000														10			5		0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260327	44260327	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:44260327G>A	uc010xcy.1	-	7	1485	c.917C>T	c.(916-918)tCg>tTg	p.S306L	ST8SIA5_uc002lci.1_Missense_Mutation_p.S117L|ST8SIA5_uc002lcj.1_Missense_Mutation_p.S270L|ST8SIA5_uc010xcz.1_Missense_Mutation_p.S239L	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	270					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						AGCTTGCGGCGATTCGAAGTC	0.622000														18			9		0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51693415	51693415	+	Silent	SNP	C	T	T	rs150740618	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51693415C>T	uc001ryg.3	-	5	544	c.492G>A	c.(490-492)aaG>aaA	p.K164K	BIN2_uc009zlz.3_Silent_p.K132K|BIN2_uc001ryh.3_Silent_p.K40K|BIN2_uc010sng.2_Silent_p.K138K	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	164	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCTCATCTTTCTTCTTGGCAT	0.517000														142			73		0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224340893	224340893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:224340893C>T	uc001hoh.2	+	3	607	c.566C>T	c.(565-567)gCc>gTc	p.A189V	FBXO28_uc009xef.2_Intron|FBXO28_uc010pvc.1_5'UTR	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	Homo sapiens F-box protein 28 (FBXO28), transcript variant 1, mRNA.	189										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TCTACCAGAGCCCCTCAACGA	0.323000														81			22		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76573717	76573717	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:76573717A>C	uc002fex.1	+	18	3470	c.3331A>C	c.(3331-3333)Att>Ctt	p.I1111L	CNTNAP4_uc002feu.1_Missense_Mutation_p.I1107L|CNTNAP4_uc002fev.1_Missense_Mutation_p.I972L|CNTNAP4_uc010chb.1_Missense_Mutation_p.I1035L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1108	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCACATAATGATTAACAGAGA	0.348000														87			29		0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225639752	225639752	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:225639752G>A	uc010fwz.1	-	51	6122	c.5883C>T	c.(5881-5883)atC>atT	p.I1961I	DOCK10_uc002vob.2_Silent_p.I1955I|DOCK10_uc002voa.2_Silent_p.I617I	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1961	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCCGGTCTTCGATTTCCTTTT	0.507000														44			16		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153026600	153026600	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:153026600G>A	uc011dcy.2	+	2	390	c.363G>A	c.(361-363)ccG>ccA	p.P121P	GRIA1_uc003lva.4_Silent_p.P111P|GRIA1_uc003luy.4_Silent_p.P111P|GRIA1_uc003luz.4_Silent_p.P16P|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Silent_p.P42P|GRIA1_uc011dcz.2_Silent_p.P121P|GRIA1_uc010jia.1_Silent_p.P91P	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	111					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCATTACGCCGAGCTTTCCCG	0.493000														116			47		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271387	22271387	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22271387C>T	uc010ecx.3	+	3	1004	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	ZNF257_uc010ecy.3_Missense_Mutation_p.H247Y	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGAGAATTCATAATAGAGA	0.378000														38			14		0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34247714	34247714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:34247714G>A	uc001wru.3	+	8	1153	c.1089G>A	c.(1087-1089)ggG>ggA	p.G363G	NPAS3_uc001wrs.3_Silent_p.G350G|NPAS3_uc001wrv.3_Silent_p.G333G|NPAS3_uc001wrt.3_Silent_p.G331G	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	363	PAC.|PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ATATCGTAGGGAAGAGATGCT	0.468000														67			30		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285576	48285576	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:48285576C>T	uc010rht.2	+	0	164	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S55F(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GTGCTCACCTCCCCCATGTAT	0.478000														36			23		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102051118	102051118	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:102051118C>T	uc001kqx.1	-	11	2330	c.1947G>A	c.(1945-1947)ggG>ggA	p.G649G	PKD2L1_uc009xwm.1_Silent_p.G602G	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	649					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GAATACGATTCCCATCTCTGT	0.502000														67			48		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196722403	196722403	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196722403G>T	uc002utj.4	-	43	8213	c.8112C>A	c.(8110-8112)gtC>gtA	p.V2704V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2704	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAACAAGCTTGACACCAGCAG	0.368000														53			12		1.49906e-05	1.50155e-05	1	1	0
DNM2	1785	broad.mit.edu	37	19	10893725	10893725	+	Missense_Mutation	SNP	C	T	T	rs145607989	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10893725C>T	uc002mpt.2	+	5	968	c.778C>T	c.(778-780)Ctc>Ttc	p.L260F	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Missense_Mutation_p.L260F|DNM2_uc010dxl.2_Missense_Mutation_p.L260F|DNM2_uc002mpu.2_Missense_Mutation_p.L260F|DNM2_uc002mpv.2_Missense_Mutation_p.L260F|DNM2_uc002mpw.3_5'UTR	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	260					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GAAGTTCTTCCTCTCCCACCC	0.587000			"""F, N, Splice, Mis, O"""		ETP ALL									53			22		0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113665	18113665	+	Missense_Mutation	SNP	G	A	A	rs150320186		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:18113665G>A	uc021veh.1	+	0	1390	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	KCNS3_uc002rcv.3_Missense_Mutation_p.D464N|KCNS3_uc002rcw.3_Missense_Mutation_p.D464N	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	464					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	p.D464N(6)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTGGTGAGCGATCCTGACTC	0.453000														74			36		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61611571	61611571	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61611571C>T	uc002jay.3	+	4	1080	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S	KCNH6_uc002jax.1_Missense_Mutation_p.P334S|KCNH6_uc010wpl.2_Missense_Mutation_p.P211S|KCNH6_uc010wpm.2_Missense_Mutation_p.P334S|KCNH6_uc002jaz.1_Missense_Mutation_p.P334S	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	334					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GGTCAGCCACCCCCGCCGCAT	0.567000														56			32		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3188392	3188392	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:3188392C>T	uc021xkv.1	+	37	5080	c.4935C>T	c.(4933-4935)tcC>tcT	p.S1645S		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1645					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCCCTTCCTCCCTCCGTCCGG	0.468000														174			69		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45024569	45024569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45024569G>A	uc010ejn.1	-	4	985	c.969C>T	c.(967-969)gcC>gcT	p.A323A	CEACAM20_uc010ejo.1_Silent_p.A323A|CEACAM20_uc010ejp.1_Silent_p.A323A|CEACAM20_uc010ejq.1_Silent_p.A323A	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	323	Ig-like C2-type 3.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGACCTCACAGGCATAGGGCC	0.642000														47			20		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84609614	84609614	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:84609614G>A	uc004amn.3	+	3	4276	c.4229G>A	c.(4228-4230)aGg>aAg	p.R1410K		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1410						integral to membrane		p.T1409S(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AAAGACACTAGGGAGTTCCTA	0.498000														17			7		0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77274304	77274304	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:77274304G>A	uc001xsv.3	-	2	950	c.837C>T	c.(835-837)ttC>ttT	p.F279F		NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	279										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TGAGGTTCACGAAGCGATAGT	0.512000														57			22		0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124515299	124515299	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124515299G>A	uc003eho.3	-	9	1926	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	543	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		AAGGCCCATAGATCTTGCCAA	0.587000														124			18		0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6599215	6599215	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:6599215C>T	uc002gdj.3	-	6	973	c.885G>A	c.(883-885)gaG>gaA	p.E295E	SLC13A5_uc010clq.3_Silent_p.E252E|SLC13A5_uc002gdk.3_Silent_p.E278E|SLC13A5_uc010vtf.2_Silent_p.E295E|SLC13A5_uc002gdl.1_Silent_p.E277E	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	295						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GGGCAGCCTTCTCGTTTTTCT	0.562000														94			60		0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5730827	5730827	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5730827C>T	uc001mbr.3	+	7	1825	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Silent_p.F310F|TRIM22_uc009yes.3_Silent_p.F478F|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	482	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		ATCCGTATTTCAATCCTTGGA	0.483000														178			35		0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67912442	67912443	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67912442_67912443CC>TT	uc002eur.3	+	9	1331_1332	c.1092_1093CC>TT	c.(1090-1095)gtccct>gtTTct	p.P365S	EDC4_uc010cer.3_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.P297S|EDC4_uc002eus.3_Missense_Mutation_p.P95S	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	365					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTTGCAGTGTCCCTTTCTGGAG	0.564000														83			34		0	0	1	0	0
FGF7	2252	broad.mit.edu	37	15	49716709	49716709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:49716709G>A	uc001zxn.3	+	1	744	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	72					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	CTCTTCTGTCGAACACAGTGG	0.408000														68			30		0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74904519	74904519	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:74904519C>T	uc001owb.3	+	8	1727	c.1332C>T	c.(1330-1332)gcC>gcT	p.A444A	SLCO2B1_uc010rrq.2_Silent_p.A189A|SLCO2B1_uc010rrr.2_Silent_p.A300A|SLCO2B1_uc010rrs.2_Silent_p.A328A|SLCO2B1_uc001owc.3_Silent_p.A217A|SLCO2B1_uc001owd.3_Silent_p.A422A	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	444					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GATGCGGTGCCCTTTGCCTGC	0.632000														41			12		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15646221	15646222	+	Missense_Mutation	DNP	CG	TA	TA	rs45604340		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15646221_15646222CG>TA	uc001ioc.1	-	19	2103_2104	c.2103_2104CG>TA	c.(2101-2106)atcgaa>atTAaa	p.E702K	ITGA8_uc010qcb.1_Missense_Mutation_p.E687K	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	702					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.I701I(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTGTTGCGTTCGATTCCAACAT	0.381000														77			36		0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018323	1018324	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:1018323_1018324CC>TT	uc003gce.3	+	5	1104_1105	c.943_944CC>TT	c.(943-945)ccc>TTc	p.P315F	FGFRL1_uc003gcf.3_Missense_Mutation_p.P315F|FGFRL1_uc003gcg.3_Missense_Mutation_p.P315F|FGFRL1_uc010ibo.3_Missense_Mutation_p.P315F	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	315	Ig-like C2-type 3.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTGGTCGCGGCCCGACGGCTCC	0.649000														74			18		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458559	45458559	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:45458559G>A	uc001rol.3	-	0		c.636C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		AGGTCCAGAGGGACCATCAAC	0.473000														38			15		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084910	53084910	+	Missense_Mutation	SNP	G	A	A	rs140839383		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:53084910G>A	uc003xqz.2	-	4	667	c.511C>T	c.(511-513)Cat>Tat	p.H171Y	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.H136Y|ST18_uc011lds.1_Missense_Mutation_p.H76Y|ST18_uc003xra.2_Missense_Mutation_p.H171Y|ST18_uc003xrb.2_Missense_Mutation_p.H171Y	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	171						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCATCAGAATGAATCAGAAAG	0.403000														55			31		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151878029	151878029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:151878029G>A	uc003wla.3	-	35	7135	c.6916C>T	c.(6916-6918)Cca>Tca	p.P2306S	MLL3_uc003wkz.3_Missense_Mutation_p.P1367S|MLL3_uc003wky.3_5'Flank	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2306					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGAGATCTTGGAGTCATTGGA	0.512000			N		medulloblastoma									67			31		0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138738312	138738312	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:138738312C>T	uc003vun.3	-	11	2722	c.2334G>A	c.(2332-2334)atG>atA	p.M778I		NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	778	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CTTCTTCCTTCATCTGCGATT	0.388000														98			30		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41000874	41000874	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41000874C>T	uc002ony.3	+	5	744	c.658C>T	c.(658-660)Cac>Tac	p.H220Y	SPTBN4_uc002onx.3_Missense_Mutation_p.H220Y|SPTBN4_uc002onz.3_Missense_Mutation_p.H220Y	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	220	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCCCTCATTCACCGGCACAG	0.572000														42			21		0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449884	91449884	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:91449884C>T	uc001tbl.3	-	1	794	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	59	LRRNT.				response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CCTCTATTTTCACAATATAAA	0.373000														79			31		0	0	1	0	0
PTGIR	5739	broad.mit.edu	37	19	47124812	47124812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47124812G>A	uc002pex.3	-	2	999	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C		NM_000960	NP_000951	P43119	PI2R_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) receptor (IP) (PTGIR), mRNA.	296					G-protein signaling, coupled to cyclic nucleotide second messenger|cell-cell signaling|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	ACAGCCTTGCGGAAAAGGATG	0.637000														64			22		0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10176100	10176100	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:10176100C>T	uc004csy.4	+	8	1289	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	CLCN4_uc011mid.2_Missense_Mutation_p.P193S	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	287						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTACTACTTTCCCCTGAAGAC	0.498000														99			66		0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	36993269	36993269	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36993269C>T	uc002xic.1	+	7	819	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	262					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCCAGTTACCCTCCTTGCTGC	0.493000														145			61		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156811288	156811288	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156811288G>A	uc010pht.2	-	20	3859	c.3560C>T	c.(3559-3561)aCc>aTc	p.T1187I	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1187	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCTGCCAGGGTCACAATCTC	0.612000														58			29		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585475	82585475	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82585475C>T	uc003uhx.2	-	4	5083	c.4794G>A	c.(4792-4794)aaG>aaA	p.K1598K	PCLO_uc003uhv.2_Silent_p.K1598K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1529					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						TGCCTTTTCCCTTTGTTTCTT	0.433000														173			52		0	0	1	0	0
SLC2A2	6514	broad.mit.edu	37	3	170716065	170716065	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:170716065G>A	uc003fhe.1	-	9	1600	c.1291C>T	c.(1291-1293)Cca>Tca	p.P431S	SLC2A2_uc003fhf.1_Missense_Mutation_p.P258S|SLC2A2_uc011bpu.1_Missense_Mutation_p.P304S	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	431					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GCAGGACGTGGTCCTTGACTG	0.463000														75			24		0	0	1	0	0
ELMOD1	55531	broad.mit.edu	37	11	107506466	107506466	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:107506466C>T	uc010rvs.2	+	5	799	c.395C>T	c.(394-396)cCc>cTc	p.P132L	ELMOD1_uc001pjm.3_Missense_Mutation_p.P132L|ELMOD1_uc010rvt.2_Missense_Mutation_p.P126L	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	132					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TCTGATAATCCCCAACATGAA	0.458000														32			9		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104642395	104642395	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:104642395C>T	uc001yos.4	+	11	3270	c.3270C>T	c.(3268-3270)gcC>gcT	p.A1090A		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	1090					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTCTCAGGCCCCTGAGGGGG	0.672000														12			7		0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104032266	104032266	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104032266G>A	uc004bbb.3	+	2	567	c.168G>A	c.(166-168)atG>atA	p.M56I	LPPR1_uc011lvi.2_Missense_Mutation_p.M32I|LPPR1_uc004bbc.3_Missense_Mutation_p.M56I|LPPR1_uc010mtc.3_Missense_Mutation_p.M40I	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	56						integral to membrane	catalytic activity										GAGACTTAATGAAGCCTTACC	0.488000														43			12		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55224310	55224310	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55224310C>T	uc003tqk.3	+	8	1337	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F	EGFR_uc003tqh.3_Missense_Mutation_p.S364F|EGFR_uc003tqi.3_Missense_Mutation_p.S364F|EGFR_uc003tqj.3_Missense_Mutation_p.S364F|EGFR_uc022adm.1_Missense_Mutation_p.S364F|EGFR_uc010kzg.2_Missense_Mutation_p.S319F|EGFR_uc022adn.1_Missense_Mutation_p.S319F|EGFR_uc011kco.2_Missense_Mutation_p.S311F|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	364					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AACTGCACCTCCATCAGTGGC	0.413000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				83			17		0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74475819	74475819	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74475819G>A	uc002jrq.2	-	3	649	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	RHBDF2_uc021udh.1_Missense_Mutation_p.R90C|RHBDF2_uc002jrr.1_5'UTR|RHBDF2_uc010wtf.1_Missense_Mutation_p.R90C|RHBDF2_uc002jrs.1_Missense_Mutation_p.R90C	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA.	119					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	p.R119C(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCTCACTTGCGGATGCTCTGG	0.662000														21			6		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666517	50666517	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:50666517C>T	uc001csb.2	+	6	1078	c.810C>T	c.(808-810)ccC>ccT	p.P270P	ELAVL4_uc001cry.3_Intron|ELAVL4_uc001crz.3_Intron|ELAVL4_uc001csa.3_Intron|ELAVL4_uc001csc.3_Intron|ELAVL4_uc010omz.2_Intron	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	270			P -> S (in dbSNP:rs2494876).		mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CTGCTTGTCCCCCCAGGTTCT	0.522000														196			45		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166179783	166179783	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166179783G>A	uc002udc.3	+	11	2079	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	SCN2A_uc002udd.3_Missense_Mutation_p.E597K|SCN2A_uc002ude.3_Missense_Mutation_p.E597K	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	597					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGCTGATGATGAGCACAGCAC	0.547000														59			16		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940437	22940437	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22940437C>T	uc021urt.1	-	3	2429	c.2274G>A	c.(2272-2274)gaG>gaA	p.E758E		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGCAGGGTTTCTCTGCAGTAT	0.353000														86			6		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36888828	36888828	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36888828C>T	uc003cgj.3	-	14	5013	c.4765G>A	c.(4765-4767)Gaa>Aaa	p.E1589K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1589					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATCTTCCATTCCTTATAAGCC	0.443000														28			6		0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24995781	24995781	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24995781C>T	uc001bjm.3	+	13	2131	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	SRRM1_uc010oel.2_Missense_Mutation_p.S648F|SRRM1_uc009vrh.1_Missense_Mutation_p.S609F|SRRM1_uc009vri.1_Missense_Mutation_p.S565F	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	636	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CGGCGGGTCTCCCATTCTCCA	0.532000														112			43		0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568849	140568849	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140568849C>T	uc003liw.1	+	1	1955	c.1955C>T	c.(1954-1956)tCg>tTg	p.S652L		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	653	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCTCGCTCGGCCACCGCC	0.706000														141			28		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23874889	23874889	+	Missense_Mutation	SNP	C	T	T	rs140596256	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23874889C>T	uc001wjv.3	-	3	363	c.292G>A	c.(292-294)Gag>Aag	p.E98K	MYH6_uc010akp.2_Missense_Mutation_p.E98K	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	98	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			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)		ACCGCGGGCTCGTGCAGGAAG	0.592000														71			18		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42344686	42344686	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42344686C>T	uc002xlb.1	+	13	2277	c.2062C>T	c.(2062-2064)Ctg>Ttg	p.L688L	MYBL2_uc010zwj.1_Silent_p.L664L	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	688						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCTGGGCCGCCTGAAGCCCAG	0.627000														273			13		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335551	20335551	+	Missense_Mutation	SNP	G	A	A	rs140222432		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20335551G>A	uc002dgv.3	-	2	205	c.122C>T	c.(121-123)tCg>tTg	p.S41L	GP2_uc002dgw.3_Missense_Mutation_p.S41L|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	41						anchored to membrane|extracellular region|plasma membrane		p.S41L(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGCCCATACGAACTGGCTTC	0.532000														37			25		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98155083	98155083	+	Silent	SNP	C	T	T	rs151335014		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98155083C>T	uc001kml.2	-	12	1828	c.1587G>A	c.(1585-1587)acG>acA	p.T529T	TLL2_uc009xvf.2_Silent_p.T507T	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	529	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.T529T(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CACTCTCTTCCGTGGGGCCAT	0.527000														72			29		0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15571068	15571068	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15571068C>T	uc002nbe.2	-	6	693	c.607_splice	c.e6-1	p.G203_splice		NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	203	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CTTGAGCAACCCCTGTGGGGA	0.572000														13			5		0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75156789	75156789	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:75156789G>A	uc003yae.3	-	3	1920	c.1880C>T	c.(1879-1881)cCt>cTt	p.P627L	JPH1_uc003yaf.3_Missense_Mutation_p.P627L|JPH1_uc003yag.1_Missense_Mutation_p.P491L	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	627					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)			TTCCAAAGCAGGGCATGAATC	0.433000														169			30		0	0	1	0	0
TSPAN32	10077	broad.mit.edu	37	11	2334931	2334931	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:2334931G>A	uc001lvy.1	+	4	539	c.402G>A	c.(400-402)gcG>gcA	p.A134A	TSPAN32_uc001lvx.1_Silent_p.A193A|TSPAN32_uc009ydk.1_Silent_p.A144A|TSPAN32_uc010qxk.2_Silent_p.A169A|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Silent_p.A104A|TSPAN32_uc001lwb.1_Silent_p.A104A|TSPAN32_uc001lwc.1_Silent_p.A79A|TSPAN32_uc001lwd.1_5'Flank	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	Homo sapiens tetraspanin 32 (TSPAN32), mRNA.	134					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ATGAGCAGGCGATGAAAGGTA	0.662000														7			4		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222429004	222429004	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:222429004G>A	uc002vmq.3	-	2	312	c.270C>T	c.(268-270)acC>acT	p.T90T	EPHA4_uc002vmr.2_Silent_p.T90T|EPHA4_uc010zlm.1_Silent_p.T31T	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	90						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)		CCCCTTCTCGGGTGATCCAAT	0.468000														171			14		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117079486	117079486	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:117079486C>T	uc011mtp.2	-	2	293	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	KLHL13_uc004eqk.3_5'UTR|KLHL13_uc004eql.3_Missense_Mutation_p.E51K|KLHL13_uc011mtn.2_5'UTR|KLHL13_uc011mto.2_Missense_Mutation_p.E45K|KLHL13_uc011mtq.2_Missense_Mutation_p.E35K|KLHL13_uc004eqm.3_Missense_Mutation_p.E9K|KLHL13_uc022cde.1_Missense_Mutation_p.E35K	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	51					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGGCCCATTTCGCTGCCTCCA	0.433000														23			14		0	0	1	0	0
C3orf65	646600	broad.mit.edu	37	3	185434297	185434297	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:185434297G>A	uc003fpr.2	+	1	306	c.130G>A	c.(130-132)Gga>Aga	p.G44R	IGF2BP2_uc010hyi.3_Intron|IGF2BP2_uc010hyj.3_Intron|IGF2BP2_uc010hyk.3_Intron|IGF2BP2_uc010hyl.3_Intron|IGF2BP2_uc003fpo.3_Intron|IGF2BP2_uc003fpp.3_Intron|IGF2BP2_uc003fpq.3_Intron|C3orf65_uc003fps.4_Non-coding_Transcript					Homo sapiens chromosome 3 open reading frame 65 (C3orf65), non-coding RNA.													all_cancers(143;1.5e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CAGCTTTTGGGGAAGTGGGCT	0.458000														114			8		0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48695053	48695053	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:48695053G>A	uc001crn.2	+	4	553	c.501G>A	c.(499-501)aaG>aaA	p.K167K	SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Silent_p.K142K|SLC5A9_uc010omt.1_Silent_p.K156K|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	142						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						AGTATCTGAAGAAGCGATTTG	0.562000														81			10		0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62189529	62189529	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:62189529G>A	uc003dlb.3	+	11	2779	c.2060G>A	c.(2059-2061)gGg>gAg	p.G687E	PTPRG_uc003dlc.3_Missense_Mutation_p.G687E	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	687					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGTATGCAGGGAGTGATCCC	0.587000														58			22		0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51679045	51679045	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:51679045G>A	uc011bdt.2	+	15	2581	c.2456G>A	c.(2455-2457)gGa>gAa	p.G819E	RAD54L2_uc003dbh.3_Missense_Mutation_p.G408E|RAD54L2_uc011bdu.2_Missense_Mutation_p.G513E|RAD54L2_uc003dbj.3_Missense_Mutation_p.G145E	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	819	Helicase C-terminal.					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)		TAAAGGGCCGGATGCTTGGGT	0.468000														53			16		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24251645	24251645	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24251645G>A	uc003xdz.2	+	3	568	c.348G>A	c.(346-348)acG>acA	p.T116T	ADAMDEC1_uc010lub.2_Silent_p.T37T|ADAMDEC1_uc011lab.1_Silent_p.T37T	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	116					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AAATTACCACGAAACCTGAGA	0.458000														39			19		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22749636	22749636	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22749636C>T	uc021wml.1	+	56		c.6320C>T								Parts of antibodies, mostly variable regions.																		TGGTTACTATCCAAACTGGTT	0.557000														51			13		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150266998	150266998	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150266998C>T	uc003whl.3	+	1	91	c.9C>T	c.(7-9)gcC>gcT	p.A3A	GIMAP4_uc011kuu.2_5'UTR|GIMAP4_uc011kuv.2_Silent_p.A3A	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	3							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAATGGCAGCCCAATACGGCA	0.512000														58			17		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36759570	36759570	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36759570C>T	uc003cgi.2	-	3	2175	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	562	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TTAAAGAGCTCGTCCTGGTCC	0.552000														225			32		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670844	134670844	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:134670844G>A	uc003eqt.3	+	2	1130	c.755G>A	c.(754-756)cGa>cAa	p.R252Q	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	252	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.G251G(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCTATTGGGCGATGCACCTGC	0.577000														128			49		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204953222	204953222	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204953222G>A	uc010prc.2	+	20	2768	c.1239G>A	c.(1237-1239)tgG>tgA	p.W413*	NFASC_uc001hbj.3_Intron|NFASC_uc010pra.2_Nonsense_Mutation_p.W842*|NFASC_uc001hbi.3_Nonsense_Mutation_p.W842*|NFASC_uc010prb.2_Nonsense_Mutation_p.W857*|NFASC_uc001hbk.1_Nonsense_Mutation_p.W652*|NFASC_uc001hbl.2_Intron|NFASC_uc001hbm.2_5'Flank			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	846	Ig-like C2-type 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.S413N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCTTCAGTGGAACCGCGTCT	0.577000														53			10		0	0	1	0	0
RNF157	114804	broad.mit.edu	37	17	74208526	74208526	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74208526C>T	uc002jqz.3	-	1	195	c.126G>A	c.(124-126)gaG>gaA	p.E42E	RNF157_uc002jra.3_Silent_p.E42E	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	42							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			AGTCAAACTTCTCTCCTCCCA	0.403000														83			8		0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55279591	55279591	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55279591G>A	uc001cyb.4	+	6	921	c.867G>A	c.(865-867)ccG>ccA	p.P289P	C1orf177_uc001cya.4_Silent_p.P289P	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	289										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CCCGAAACCCGAAAACCCCTA	0.502000														122			38		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125025715	125025715	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:125025715G>A	uc003yqw.3	+	14	2072	c.1866G>A	c.(1864-1866)caG>caA	p.Q622Q	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	622						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGATTTCACAGGAGGCACCTG	0.483000														88			42		0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39092585	39092585	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39092585G>A	uc002hvm.1	-	1	860	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Missense_Mutation_p.R91C|KRT23_uc002hvn.1_Missense_Mutation_p.R91C	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	91	Coil 1A.|Rod.					intermediate filament	structural molecule activity	p.R91R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TCCAGGGCGCGAACCTTCTCC	0.557000														98			55		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152084368	152084368	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152084368C>T	uc009wne.1	-	2	1597	c.1325G>A	c.(1324-1326)aGg>aAg	p.R442K	TCHH_uc001ezp.2_Missense_Mutation_p.R442K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	442	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctgctcgcgcctctcctgctc	0.692000														89			22		0	0	1	0	0
C5orf54	63920	broad.mit.edu	37	5	159821494	159821494	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:159821494G>A	uc003lye.1	-	1	1468	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F	C5orf54_uc003lyf.1_Missense_Mutation_p.S335F|C5orf54_uc021yhc.1_Missense_Mutation_p.S335F	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	Homo sapiens chromosome 5 open reading frame 54 (C5orf54), mRNA.	335										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ttggcctcgggaaagccacct	0.363000														37			22		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215852476	215852476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:215852476G>A	uc002vew.3	-	26	4091	c.3871C>T	c.(3871-3873)Cct>Tct	p.P1291S	ABCA12_uc002vev.3_Missense_Mutation_p.P973S|ABCA12_uc010zjn.2_Missense_Mutation_p.P218S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1291					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAATAGGAAGGAAGAATTGGA	0.423000														33			6		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11364993	11364993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:11364993C>T	uc003jfa.1	-	7	1332	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	CTNND2_uc010itt.2_Missense_Mutation_p.R305Q|CTNND2_uc011cmy.1_Missense_Mutation_p.R59Q|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	396					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTATGAGGCTCGGGAACCAGC	0.488000														41			10		0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55733486	55733486	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:55733486G>A	uc021tio.1	+	10	1561	c.1510G>A	c.(1510-1512)Gac>Aac	p.D504N	SLC6A2_uc002eif.3_Missense_Mutation_p.D504N|SLC6A2_uc002eig.3_Missense_Mutation_p.D504N|SLC6A2_uc002eii.3_Missense_Mutation_p.D399N|SLC6A2_uc002eij.3_Missense_Mutation_p.D218N|SLC6A2_uc021tip.1_Non-coding_Transcript	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	504					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTTCAGCAACGACATCCAGCA	0.592000														49			5		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19195023	19195023	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19195023G>A	uc002dfw.3	+	4	836	c.505G>A	c.(505-507)Gac>Aac	p.D169N	SYT17_uc002dfx.3_Missense_Mutation_p.D108N|SYT17_uc002dfy.3_Missense_Mutation_p.D165N	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	169						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CTCCAACAGCGACGATGTGGA	0.562000														56			17		0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068442	5068442	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5068442C>T	uc010qyv.2	+	0	687	c.687C>T	c.(685-687)ctC>ctT	p.L229L		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TCTTCCGCCTCCCATCACATG	0.448000														143			72		0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56114291	56114291	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56114291G>A	uc010rjg.2	+	0	777	c.777G>A	c.(775-777)ggG>ggA	p.G259G		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y258S(1)|p.Y258Y(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGTTCTATGGGACATTGTTAT	0.408000										HNSCC(65;0.19)				90			12		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140926196	140926196	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140926196C>T	uc011mwp.2	+	0	95	c.95C>T	c.(94-96)tCc>tTc	p.S32F		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	32								p.L31V(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TATGCCTTATCCCCAGTGGTG	0.562000														38			60		0	0	1	0	0
HOXC8	3224	broad.mit.edu	37	12	54405148	54405148	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54405148G>A	uc001ser.3	+	1	891	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K		NM_022658	NP_073149	P31273	HXC8_HUMAN	Homo sapiens homeobox C8 (HOXC8), mRNA.	238						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						ggaggaaaaggaagaAAACAA	0.448000														57			20		0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69376695	69376695	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:69376695G>A	uc001xkl.3	-	4	802	c.492C>T	c.(490-492)gtC>gtT	p.V164V	ACTN1_uc010ttb.2_Silent_p.V99V|ACTN1_uc001xkm.3_Silent_p.V164V|ACTN1_uc001xkn.3_Silent_p.V164V|ACTN1_uc001xko.1_Silent_p.V99V|ACTN1_uc010ttd.1_Silent_p.V143V	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	164	Actin-binding.|CH 2.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCTGGATGTTGACATTTTTGT	0.592000														71			30		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075049	106075049	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106075049C>T	uc001kyf.3	-	2	1214	c.761G>A	c.(760-762)aGc>aAc	p.S254N	ITPRIP_uc001kye.3_Missense_Mutation_p.S254N|ITPRIP_uc001kyg.3_Missense_Mutation_p.S254N|ITPRIP_uc021pxv.1_Missense_Mutation_p.S254N	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	254						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCAGATGCAGCTCAATGTGTC	0.652000														41			17		0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891955	30891955	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:30891955C>T	uc003aid.2	-	2	234	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	SEC14L4_uc011akz.1_Missense_Mutation_p.R45Q|SEC14L4_uc003aie.2_Missense_Mutation_p.E14K|SEC14L4_uc003aif.2_5'UTR	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	45						integral to membrane|intracellular	lipid binding|transporter activity	p.R45R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GTCAAAGTTTCGAGCTGCAAG	0.502000														21			5		0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617754	111617754	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:111617754G>A	uc004bdi.3	-	0	522	c.457C>T	c.(457-459)Ccg>Tcg	p.P153S		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	153						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			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						GGGCTGAGCGGAGGGTCGGAG	0.622000														42			9		0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97377690	97377690	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:97377690G>A	uc002swv.3	-	5	649	c.613C>T	c.(613-615)Cct>Tct	p.P205S	LMAN2L_uc002swu.3_Missense_Mutation_p.P194S|LMAN2L_uc010yuu.2_Missense_Mutation_p.P58S|LMAN2L_uc010yut.2_Missense_Mutation_p.P60S|LMAN2L_uc010yuv.2_Missense_Mutation_p.P47S|LMAN2L_uc010yuw.2_Missense_Mutation_p.P49S|LMAN2L_uc010yux.2_Missense_Mutation_p.P49S	NM_001142292	NP_001135764	Q9H0V9	LMA2L_HUMAN	Homo sapiens lectin, mannose-binding 2-like (LMAN2L), transcript variant 1, mRNA.	194	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	ER to Golgi transport vesicle|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						AGCTCTGTAGGCCGCCCATCC	0.557000														49			23		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36223190	36223190	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36223190C>T	uc021usv.1	+	27	5740	c.5740C>T	c.(5740-5742)Cgt>Tgt	p.R1914C	MLL2_uc021usu.1_Missense_Mutation_p.R728C	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	526					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CAGACGTTCCCGTCGTCCCAG	0.642000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				13			7		0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25260919	25260919	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:25260919G>A	uc001rgh.3	+	20	2519	c.1425G>A	c.(1423-1425)gaG>gaA	p.E475E	LRMP_uc010sja.2_Silent_p.E475E|LRMP_uc010sjc.2_Silent_p.E475E|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Silent_p.E422E|LRMP_uc010sjd.2_Silent_p.E422E	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	531					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)					CACAGCAAGAGGACTCATGGA	0.483000														100			27		0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98850360	98850360	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:98850360G>A	uc009ztm.2	-	0	564	c.375C>T	c.(373-375)ttC>ttT	p.F125F						Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1 (SLC9A7P1), non-coding RNA.																		CCTATGGGTCGAATGTTACCT	0.413000														22			8		0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48191778	48191778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48191778C>T	uc002iqf.3	-	7	1148	c.849G>A	c.(847-849)gaG>gaA	p.E283E	SAMD14_uc002iqe.3_Intron|SAMD14_uc002iqg.3_Intron	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA.	274										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						TGCTCAGTGCCTCCTGTGCAT	0.577000														52			11		0	0	1	0	0
BFAR	51283	broad.mit.edu	37	16	14738443	14738443	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:14738443C>T	uc002dco.3	+	1	521	c.240C>T	c.(238-240)ttC>ttT	p.F80F	BFAR_uc010uzh.2_Missense_Mutation_p.P21S	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.	80					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						GGGAAGGTTTCCCCAAAGTCA	0.408000														108			39		0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59190271	59190271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59190271C>T	uc010rkt.2	-	0	156	c.156G>A	c.(154-156)atG>atA	p.M52I		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GGTGAGAGTCCATCTTAATGA	0.488000														82			11		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28992873	28992873	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28992873C>T	uc002kwr.2	+	14	2630	c.2495C>T	c.(2494-2496)tCt>tTt	p.S832F	DSG4_uc002kwq.2_Missense_Mutation_p.S813F	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	813					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGAGTCGGGTCTCCCGTAGGC	0.428000														87			30		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15580492	15580492	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15580492G>A	uc002nbg.3	-	3	1725	c.1592C>T	c.(1591-1593)cCc>cTc	p.P531L	PGLYRP2_uc002nbf.4_Missense_Mutation_p.P531L	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	531					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CGCGTCGCCGGGGCAGTCGGT	0.726000														12			5		0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34356394	34356394	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34356394C>T	uc001zhk.1	+	2	2146	c.1476C>T	c.(1474-1476)ccC>ccT	p.P492P	CHRM5_uc001zhl.1_Silent_p.P492P|CHRM5_uc021sir.1_Silent_p.P492P	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	492					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CTGTCAACCCCATCTGCTATG	0.478000														74			23		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537447	55537447	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55537447G>A	uc003xsd.1	+	3	1153	c.1005G>A	c.(1003-1005)atG>atA	p.M335I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	335					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.M335I(2)|p.M335L(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGTTGAGATGAAAGTTCGAT	0.313000														35			19		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99827651	99827651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:99827651G>A	uc001pga.3	+	7	1291	c.787G>A	c.(787-789)Gat>Aat	p.D263N	CNTN5_uc009ywv.2_Missense_Mutation_p.D263N|CNTN5_uc001pfz.3_Missense_Mutation_p.D263N|CNTN5_uc021qpb.1_Missense_Mutation_p.D263N|CNTN5_uc021qpc.1_Missense_Mutation_p.D189N	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	263	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCAAACATCAGATGTTGGCAG	0.463000														33			19		0	0	1	0	0
IFNA2	3440	broad.mit.edu	37	9	21384900	21384900	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21384900C>T	uc003zpb.3	-	0	497	c.429G>A	c.(427-429)agG>agA	p.R143R		NM_000605	NP_000596	P01563	IFNA2_HUMAN	Homo sapiens interferon, alpha 2 (IFNA2), mRNA.	143					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.R143G(1)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GGAAGTATTTCCTCACAGCCA	0.478000														213			103		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440346	40440346	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:40440346C>T	uc003gvc.2	-	3	1275	c.565G>A	c.(565-567)Gac>Aac	p.D189N	RBM47_uc003gvd.2_Missense_Mutation_p.D189N|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.D151N|RBM47_uc003gvg.1_Missense_Mutation_p.D189N	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	189	RRM 2.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TTCATCTTGTCGGCCGCGCTG	0.647000														70			41		0	0	1	0	0
RNF186	54546	broad.mit.edu	37	1	20141286	20141286	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:20141286C>T	uc001bcr.3	-	0	486	c.309G>A	c.(307-309)gaG>gaA	p.E103E		NM_019062	NP_061935	Q9NXI6	RN186_HUMAN	Homo sapiens ring finger protein 186 (RNF186), mRNA.	103						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCACCGCCTCATGGTCGC	0.672000														71			15		0	0	1	0	0
AREG	374	broad.mit.edu	37	4	75312457	75312457	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:75312457G>A	uc021xpc.1	+	1	478	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K		NM_001657	NP_001648	P15514	AREG_HUMAN	Homo sapiens amphiregulin (AREG), mRNA.	90					G-protein coupled receptor protein signaling pathway|cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			GTATGATAACGAACCACAAAT	0.448000														80			35		0	0	1	0	0
MRPL14	64928	broad.mit.edu	37	6	44081883	44081883	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:44081883G>A	uc003owp.3	-	2	264	c.135C>T	c.(133-135)gcC>gcT	p.A45A		NM_032111	NP_115487	Q6P1L8	RM14_HUMAN	Homo sapiens mitochondrial ribosomal protein L14 (MRPL14), nuclear gene encoding mitochondrial protein, mRNA.	45					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			TGTTCCCCAGGGCACTGTTGT	0.542000														301			29		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207176205	207176205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:207176205G>A	uc002vbp.2	+	4	7203	c.6953G>A	c.(6952-6954)gGt>gAt	p.G2318D		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2318							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CGACAGAAAGGTCCTTCTACA	0.483000														16			17		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192700856	192700856	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:192700856C>T	uc002utb.3	-	1	1426	c.1071G>A	c.(1069-1071)gaG>gaA	p.E357E		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	357						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	AGGTCGCCTTCTCAGCAGCCT	0.572000														165			13		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467808	74467808	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74467808G>A	uc002axg.1	+	1	891	c.609G>A	c.(607-609)ccG>ccA	p.P203P	ISLR_uc002axh.1_Silent_p.P203P|ISLR_uc021sqf.1_Silent_p.P203P	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	203	LRRCT.				cell adhesion	extracellular region		p.I202T(1)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGTCCATCCCGGAGCAGGACA	0.662000														49			14		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171178038	171178038	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171178038C>T	uc001ghk.1	+	8	1479	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	FMO2_uc010pmd.1_Silent_p.F234F	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	454					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCTCTTGTTCAAAGATCCTA	0.502000														205			102		0	0	1	0	0
MBOAT7	79143	broad.mit.edu	37	19	54687453	54687454	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54687453_54687454GG>AA	uc002qdq.3	-	5	709_710	c.443_444CC>TT	c.(442-444)tcc>tTT	p.S148F	MBOAT7_uc010erg.3_5'UTR|MBOAT7_uc010yem.2_Missense_Mutation_p.S130F|MBOAT7_uc002qdr.3_Missense_Mutation_p.S148F|MBOAT7_uc002qds.3_Missense_Mutation_p.S75F|MBOAT7_uc010yen.2_Missense_Mutation_p.S75F|MBOAT7_uc002qdt.4_Missense_Mutation_p.S148F	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA.	148					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCTCCATCAGGGAGGGCACGTC	0.614000														78			7		0	0	1	0	0
C3orf67	200844	broad.mit.edu	37	3	58849567	58849567	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58849567C>T	uc003dkt.1	-	11	1344	c.935G>A	c.(934-936)aGc>aAc	p.S312N	C3orf67_uc003dks.1_Missense_Mutation_p.S127N|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.S127N|C3orf67_uc003dkw.3_Missense_Mutation_p.S207N	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	312										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		AGACTGTCTGCTGGATGCCAG	0.453000														58			16		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155537	22155537	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22155537G>A	uc021urr.1	-	3	2448	c.2299C>T	c.(2299-2301)Cat>Tat	p.H767Y	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)				ATTTTCTTATGATAACTAAGG	0.358000														43			30		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11215925	11215925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11215925C>T	uc002mqk.4	+	3	530	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	LDLR_uc010xlk.2_Missense_Mutation_p.R115C|LDLR_uc010xll.2_Missense_Mutation_p.R74C|LDLR_uc021upc.1_Intron|LDLR_uc010xln.2_Intron|LDLR_uc010xlo.2_Intron|LDLR_uc010xlm.2_Intron|LDLR_uc021upd.1_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	115	LDL-receptor class A 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.?(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)	GGACGAGTTTCGCTGCCACGA	0.622000														147			66		0	0	1	0	0
AMDHD1	144193	broad.mit.edu	37	12	96354255	96354255	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:96354255G>A	uc001tel.2	+	4	773	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	AMDHD1_uc009zth.2_Missense_Mutation_p.E114K	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	223					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CAGAAATGGGGAAATACACGT	0.418000														83			9		0	0	1	0	0
LIMS1	3987	broad.mit.edu	37	2	109276206	109276206	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:109276206G>T	uc002teg.3	+	1	271	c.142G>T	c.(142-144)Gga>Tga	p.G48*	LIMS1_uc002tel.3_Nonsense_Mutation_p.G60*|LIMS1_uc002teh.3_Nonsense_Mutation_p.G48*|LIMS1_uc002tei.3_Nonsense_Mutation_p.G52*|LIMS1_uc002tej.3_Nonsense_Mutation_p.G85*|LIMS1_uc002tek.4_Nonsense_Mutation_p.G110*	NM_004987	NP_004978	P48059	LIMS1_HUMAN	Homo sapiens LIM and senescent cell antigen-like domains 1 (LIMS1), transcript variant 2, mRNA.	48	LIM zinc-binding 1.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						GTTCCCAGAAGGACTCTTCTA	0.577000														92			23		5.35356e-11	5.37305e-11	1	1	0
LAMA1	284217	broad.mit.edu	37	18	7050889	7050889	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:7050889C>T	uc002knm.3	-	3	486	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	LAMA1_uc010wzj.2_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	131	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTTCCAGGTCGAGGGGCATT	0.463000														40			17		0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4199219	4199219	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:4199219G>A	uc003ghp.1	-	4	1372	c.1342C>T	c.(1342-1344)Cac>Tac	p.H448Y		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	448					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCTCTCGGTGAATGGATTCA	0.547000														96			22		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140752118	140752118	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140752118C>T	uc003ljw.2	+	0	2157	c.2157C>T	c.(2155-2157)tcC>tcT	p.S719S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.S719S|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	732					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)			GATGCTCCTCCAGACCCGCCA	0.557000														56			17		0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234553868	234553868	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:234553868G>A	uc001hwd.3	-	21	3667	c.3667C>T	c.(3667-3669)Cct>Tct	p.P1223S		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1223					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AGAAATTGAGGGAATTTATGA	0.284000														26			7		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174260	51174260	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:51174260C>T	uc021tif.1	-	1	1904	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	SALL1_uc021tid.1_Missense_Mutation_p.E528K|SALL1_uc021tie.1_Missense_Mutation_p.E625K|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	625					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCACTCTCTTCGCTTTTGCCA	0.642000														49			11		0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153497395	153497395	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:153497395G>A	uc002tye.3	+	24	3503	c.3136G>A	c.(3136-3138)Gga>Aga	p.G1046R	FMNL2_uc010fob.3_Missense_Mutation_p.G502R|FMNL2_uc002tyf.3_Missense_Mutation_p.G495R	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	1046	DAD.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TGTATATGAGGGAAAAGATGG	0.413000														42			12		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108124267	108124267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108124267G>A	uc003dxa.1	-	33	4771	c.4714C>T	c.(4714-4716)Cat>Tat	p.H1572Y		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1572						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						AGCTGGAAATGAAGAATCTTG	0.318000														42			8		0	0	1	0	0
PROK2	60675	broad.mit.edu	37	3	71821914	71821914	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:71821914C>T	uc003dpa.4	-	3	505	c.351G>A	c.(349-351)cgG>cgA	p.R117R	PROK2_uc003doz.4_Silent_p.R96R	NM_001126128	NP_001119600	Q9HC23	PROK2_HUMAN	Homo sapiens prokineticin 2 (PROK2), transcript variant 1, mRNA.	117					activation of MAPK activity|angiogenesis|anti-apoptosis|cell proliferation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|neuropeptide signaling pathway|positive regulation of smooth muscle contraction|sensory perception of pain|spermatogenesis	extracellular region	G-protein-coupled receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)		TAAATGAAGTCCGTAAACAGG	0.418000														82			28		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214813331	214813331	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:214813331C>T	uc001hkm.3	+	11	1824	c.1650C>T	c.(1648-1650)tcC>tcT	p.S550S		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	550					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGAAAACTCCTTGACTTTAG	0.343000														169			75		0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56435862	56435862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:56435862C>T	uc003xsf.3	+	2	1061	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	343						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGCTTCCCTCGTGTCCCTGG	0.572000														16			12		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101815074	101815074	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:101815074G>A	uc001pgm.3	+	2	597	c.327G>A	c.(325-327)caG>caA	p.Q109Q	KIAA1377_uc001pgn.3_Silent_p.Q65Q|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	109							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAAGAAAACAGAAGTTTGAAG	0.358000														58			24		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65234028	65234028	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:65234028C>T	uc001xht.3	-	29	6313	c.6262G>A	c.(6262-6264)Gag>Aag	p.E2088K	SPTB_uc001xhr.3_Missense_Mutation_p.E2088K|SPTB_uc001xhs.3_Missense_Mutation_p.E2088K|SPTB_uc001xhu.3_Missense_Mutation_p.E2088K|SPTB_uc010aqi.3_Missense_Mutation_p.E749K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	2088					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CACCCAGTCTCCTCTGCGGGT	0.577000														246			59		0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378100	19378100	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:19378100G>T	uc010tkp.2	+	0	507	c.507G>T	c.(505-507)ctG>ctT	p.L169L		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGATTTCTGTGGTTCCTGA	0.488000														146			28		8.73648e-17	8.77853e-17	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140189125	140189125	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140189125C>T	uc003lhi.2	+	0	2454	c.2353C>T	c.(2353-2355)Cag>Tag	p.Q785*	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Nonsense_Mutation_p.Q785*|PCDHAC2_uc011daa.2_Nonsense_Mutation_p.Q785*	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	835					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)			CAGAGAAGATCAGCTGCAGAC	0.468000														170			16		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14819293	14819293	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14819293C>T	uc003zlm.3	-	14	3301	c.2485G>A	c.(2485-2487)Gga>Aga	p.G829R	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	829					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGAGGAAATCCATTCAGCTCC	0.433000														43			6		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69445293	69445293	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:69445293C>T	uc010lyz.3	+	6	1305	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	C8orf34_uc010lyy.2_Silent_p.L338L|C8orf34_uc003xyb.3_Silent_p.L227L	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	252					signal transduction		cAMP-dependent protein kinase regulator activity	p.T337A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCGCAATGCTCTCTCAAGATT	0.373000														118			45		0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76811167	76811167	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:76811167G>A	uc003hix.3	-	4	717	c.360C>T	c.(358-360)tcC>tcT	p.S120S	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Silent_p.S120S	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	120			S -> R.		detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGAGTGGGAAGGAGAGGCGTG	0.522000														145			53		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101748315	101748315	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:101748315C>T	uc004azb.1	+	2	775	c.569C>T	c.(568-570)tCc>tTc	p.S190F		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	190	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCCAGCGGTCCTCCCAGGCT	0.567000														49			24		0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790279	248790279	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248790279G>A	uc001ier.1	-	0	151	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			GTGTGGAGGCGAGAGTCCACC	0.498000														78			25		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21876619	21876620	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21876619_21876620GG>AA	uc001war.2	-	11	2646_2647	c.2581_2582CC>TT	c.(2581-2583)ccc>TTc	p.P861F	CHD8_uc001was.2_Missense_Mutation_p.P582F|CHD8_uc001wav.1_Missense_Mutation_p.P24F	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	861	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GACCAAGAAGGGACCATGGATG	0.470000														77			12		0	0	1	0	0
GTF2F1	2962	broad.mit.edu	37	19	6381394	6381394	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6381394G>A	uc002meq.2	-	8	1279	c.994C>T	c.(994-996)Ccg>Tcg	p.P332S	GTF2F1_uc010xjb.1_Missense_Mutation_p.P153S|GTF2F1_uc010xjc.1_Missense_Mutation_p.P247S	NM_002096	NP_002087	P35269	T2FA_HUMAN	Homo sapiens general transcription factor IIF, polypeptide 1, 74kDa (GTF2F1), mRNA.	332	Glu-rich.				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	DNA binding|catalytic activity|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						TTCTCCTGCGGGGTGGGTGcc	0.652000														22			5		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049251	42049251	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:42049251G>A	uc001cgz.4	-	3	2431	c.1218C>T	c.(1216-1218)ccC>ccT	p.P406P	HIVEP3_uc001cha.4_Silent_p.P406P|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	406	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGTGTTTGGGGGGCTGACCT	0.592000														99			17		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087437	92087437	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92087437G>A	uc001pdj.4	+	0	2176	c.2159G>A	c.(2158-2160)aGa>aAa	p.R720K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	720					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R720I(2)|p.A720T(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCAATTAATAGACAGGGACCA	0.403000										TCGA Ovarian(4;0.039)				183			63		0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179255882	179255882	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179255882G>A	uc002uly.3	+	22	3003	c.2459G>A	c.(2458-2460)gGa>gAa	p.G820E	MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.G795E|OSBPL6_uc010zfe.2_Missense_Mutation_p.G764E|OSBPL6_uc002ulz.3_Missense_Mutation_p.G759E|OSBPL6_uc002uma.3_Missense_Mutation_p.G799E	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	795					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CGGCTGTTTGGAAAGTGGCAT	0.527000														117			41		0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67219300	67219300	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67219300C>T	uc001olm.3	-	0	901	c.896G>A	c.(895-897)aGt>aAt	p.S299N	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	299						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GAGGTCGGCACTGGCCATGAG	0.657000														78			11		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419919	130419919	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:130419919C>T	uc004ewe.4	-	3	484	c.201G>A	c.(199-201)aaG>aaA	p.K67K	IGSF1_uc004ewd.3_Silent_p.K67K|IGSF1_uc022cdv.1_Silent_p.K58K|IGSF1_uc004ewf.2_Silent_p.K47K|IGSF1_uc022cdw.1_Silent_p.K67K|IGSF1_uc004ewg.3_Silent_p.K67K	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	67	Ig-like C2-type 1.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCAGCAGGAACTTGCTTGATA	0.527000														55			48		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207760774	207760774	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207760774G>A	uc001hfy.3	+	25	4364	c.4224G>A	c.(4222-4224)acG>acA	p.T1408T	CR1_uc009xcl.1_Silent_p.T958T|CR1_uc001hfx.3_Silent_p.T1858T|CR1_uc021pij.1_Silent_p.T1408T	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1408	Sushi 22.		T -> I.|T -> M (in dbSNP:rs3737002).		complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCAGTCCTACGATCCCAATTA	0.438000														56			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474571	179474571	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179474571C>T	uc021vsy.1	-	220	44100	c.43875G>A	c.(43873-43875)agG>agA	p.R14625R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.R8320R|TTN_uc021vta.1_Silent_p.R8253R|TTN_uc021vtb.1_Silent_p.R8128R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15552	Ig-like 96.						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)			ATCTCTTCCACCTTTCTTCAC	0.468000														416			157		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21211172	21211172	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21211172C>T	uc010bwn.1	-	14	1894	c.1812G>A	c.(1810-1812)caG>caA	p.Q604Q	ZP2_uc002dii.2_Silent_p.Q574Q	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	574	ZP.				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)		GGAAGGTGGTCTGGTAGTTGT	0.493000														66			15		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61761051	61761051	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:61761051C>T	uc002eog.2	-	8	2438	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	CDH8_uc002eoh.3_Missense_Mutation_p.E264K	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	495	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GATGCGAATTCAGGGGCGTTG	0.393000														137			60		0	0	1	0	0
FAM86B1	85002	broad.mit.edu	37	8	12042898	12042898	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:12042898G>A	uc010lse.3	-	5	822	c.777C>T	c.(775-777)ttC>ttT	p.F259F	LOC100506990_uc011kxp.1_Intron|FAM86B1_uc003wvf.4_Non-coding_Transcript|FAM86B1_uc010lsd.3_Non-coding_Transcript|FAM86B1_uc003wvh.4_Silent_p.F102F|FAM86B1_uc003wvi.4_Silent_p.F65F|FAM86B1_uc010lsf.3_Silent_p.F102F|FAM86B1_uc010lsg.3_Non-coding_Transcript|FAM86B1_uc003wvl.4_Non-coding_Transcript|FAM86B1_uc011kxq.2_Silent_p.F65F	NM_001083537	NP_001077006	Q8N7N1	F86B1_HUMAN	Homo sapiens family with sequence similarity 86, member B1 (FAM86B1), transcript variant 1, mRNA.	259										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		GCTCGGTGGTGAACAGCTGGC	0.662000														23			9		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58118625	58118625	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58118625C>T	uc003djj.2	+	25	4646	c.4481C>T	c.(4480-4482)tCa>tTa	p.S1494L	FLNB_uc010hne.2_Missense_Mutation_p.S1525L|FLNB_uc003djk.2_Missense_Mutation_p.S1494L|FLNB_uc010hnf.2_Missense_Mutation_p.S1494L|FLNB_uc003djl.2_Missense_Mutation_p.S1325L|FLNB_uc003djm.2_Missense_Mutation_p.S1325L	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1494	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TACATGGTCTCAGTTAAATAT	0.512000														22			12		0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61291963	61291963	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:61291963G>A	uc001nrv.3	-	5	716	c.664C>T	c.(664-666)Caa>Taa	p.Q222*	SYT7_uc009ynr.3_Nonsense_Mutation_p.Q297*	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	222	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCCAGGACTTGGAGGTAGAGG	0.587000														58			6		0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44640922	44640922	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44640922G>A	uc002xqz.3	+	6	1163	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	382	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.S381R(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CTTTGACAGCGACAAGAAGTG	0.667000														83			36		0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112194227	112194227	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:112194227G>A	uc009zvx.3	+	21	3423	c.3223G>A	c.(3223-3225)Gag>Aag	p.E1075K	ACAD10_uc001tsq.3_Missense_Mutation_p.E1044K|ACAD10_uc001tss.1_Intron	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	1044							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						CGGCCCTGACGAGGTGCACCG	0.647000														11			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179535006	179535006	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179535006C>T	uc021vsy.1	-	151	31647	c.31422G>A	c.(31420-31422)aaG>aaA	p.K10474K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K7135K|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11401	Glu-rich.|Pro-rich.						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)			CCACAATTTTCTTAGGCACCT	0.313000														14			5		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94158125	94158125	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94158125C>T	uc001ybv.1	+	44	7038	c.6955C>T	c.(6955-6957)Cac>Tac	p.H2319Y	UNC79_uc001ybs.1_Missense_Mutation_p.H2297Y	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2474						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						CTCCCTCTTCCACGCGTTCAT	0.532000														84			30		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43230915	43230915	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43230915G>A	uc003ouq.1	+	12	2092	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	TTBK1_uc011dvg.1_Missense_Mutation_p.E128K	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	605						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGCGCTGGCGGAGGAGGACCT	0.756000														7			3		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48965474	48965474	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48965474G>A	uc010kyv.1	+	0	1318	c.1206G>A	c.(1204-1206)cgG>cgA	p.R402R						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		ATAGAAGTCGGGCCCTGAAAA	0.458000														29			6		0	0	1	0	0
OVOL1	5017	broad.mit.edu	37	11	65562597	65562597	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65562597C>T	uc001ofp.3	+	3	929	c.589C>T	c.(589-591)Cat>Tat	p.H197Y	OVOL1_uc001ofq.3_Missense_Mutation_p.H135Y	NM_004561	NP_004552	O14753	OVOL1_HUMAN	Homo sapiens ovo-like 1(Drosophila) (OVOL1), mRNA.	197					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		CAAGAAGATCCATGGTGTGCA	0.627000														57			13		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4409622	4409622	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4409622C>T	uc002mal.3	+	2	926	c.826C>T	c.(826-828)Ccc>Tcc	p.P276S		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	276	Binds to CBX1 chromo shadow domain.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAATCTTTCCCCGAAGAAGA	0.592000								Chromatin Structure						51			20		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450471	85450471	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:85450471G>A	uc001tac.3	+	7	2011	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	LRRIQ1_uc021rbo.1_Missense_Mutation_p.E512K|LRRIQ1_uc001taa.1_Missense_Mutation_p.E609K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	634										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACAAGAAAAAGAAATTTATTC	0.294000														30			8		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142505555	142505555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:142505555C>T	uc003ywi.2	-	2	372	c.291G>A	c.(289-291)atG>atA	p.M97I	FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	97							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGCACTGTTCATGTCCTGCA	0.532000														41			18		0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17660315	17660315	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17660315C>T	uc021uqj.1	+	14	1960	c.1822C>T	c.(1822-1824)Cca>Tca	p.P608S	FAM129C_uc021uqi.1_Missense_Mutation_p.P608S|FAM129C_uc002ngy.4_Missense_Mutation_p.P334S|FAM129C_uc010xpu.2_Intron|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_Missense_Mutation_p.P298S	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	608										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CTTGGAGGTCCCATGGGAACA	0.552000														108			32		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189849638	189849638	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189849638G>A	uc002uqj.1	+	1	349	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	78	VWFC.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCCCAACCCAGAAATTCCATT	0.418000														65			16		0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42459061	42459061	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42459061G>A	uc001zpd.3	-	14	1612	c.1461C>T	c.(1459-1461)tgC>tgT	p.C487C	VPS39_uc001zpc.3_Silent_p.C476C|VPS39_uc001zpb.3_5'Flank	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	487					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CCTCGATGTGGCAGTGATTGT	0.552000														104			47		0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19547601	19547602	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19547601_19547602CC>TT	uc002dgl.4	+	3	857_858	c.610_611CC>TT	c.(610-612)ccc>TTc	p.P204F	CCP110_uc002dgk.4_Missense_Mutation_p.P204F	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	204	CEP97 binding.				G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TTCTGATGGTCCCTTCTCAGTA	0.391000														111			57		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126153184	126153184	+	Missense_Mutation	SNP	G	A	A	rs141942694	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:126153184G>A	uc010hsg.1	+	13	1650	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K	CCDC37_uc003eiu.1_Missense_Mutation_p.E530K	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	530										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GGTCAAGATCGAGCAGGCCGA	0.637000														53			14		0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123984630	123984630	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:123984630G>A	uc003ktq.1	-	3	1630	c.1447C>T	c.(1447-1449)Cca>Tca	p.P483S	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.P483S|ZNF608_uc003ktt.1_Missense_Mutation_p.P483S	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	483						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCACAATTTGGGGGTGTCCTT	0.562000														95			29		0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31477646	31477646	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31477646C>T	uc010vfn.2	+	7	2653	c.2529C>T	c.(2527-2529)ccC>ccT	p.P843P	ARMC5_uc010vfo.2_Silent_p.P780P|ARMC5_uc002ecc.3_Silent_p.P748P|ARMC5_uc002eca.4_3'UTR|ARMC5_uc002ecb.2_3'UTR|ARMC5_uc010vfp.2_Silent_p.P556P	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	748							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCCCAGCTCCCGACCTGCACT	0.667000														27			11		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68984806	68984806	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:68984806G>A	uc003xxv.1	+	14	1596	c.1569_splice	c.e14+1	p.Q523_splice	PREX2_uc003xxu.1_Splice_Site_p.Q523_splice|PREX2_uc011lez.1_Splice_Site_p.Q458_splice	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	523	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AATTGCACAGGTAAATAGACA	0.348000														114			11		0	0	1	0	0
PRPF31	26121	broad.mit.edu	37	19	54625919	54625919	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54625919C>T	uc002qdh.2	+	4	762	c.366C>T	c.(364-366)ttC>ttT	p.F122F	PRPF31_uc010yek.1_Silent_p.F122F|PRPF31_uc021vbi.1_Silent_p.F122F	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	122					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP|nuclear speck	RNA binding|snRNP binding	p.R121R(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAAAGAGATTCCCTGAACTGG	0.537000														95			144		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164095	26164095	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26164095C>T	uc003abz.1	+	3	462	c.212C>T	c.(211-213)tCc>tTc	p.S71F	MYO18B_uc003aca.1_5'UTR|MYO18B_uc010guy.1_5'UTR|MYO18B_uc010guz.1_5'UTR|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	71	Ser-rich.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						CCAGAAATTTCCATCAGCCAA	0.498000														139			42		0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52952628	52952628	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:52952628C>T	uc001vgo.3	-	4	2022	c.1477G>A	c.(1477-1479)Ggc>Agc	p.G493S	THSD1_uc001vgp.3_Missense_Mutation_p.G440S|THSD1_uc010tgz.2_Missense_Mutation_p.G114S	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	493						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		AGAGGGATGCCTGTGTCCCCT	0.647000														69			21		0	0	1	0	0
MNS1	55329	broad.mit.edu	37	15	56726525	56726525	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:56726525C>T	uc002adr.2	-	7	1245	c.1080G>A	c.(1078-1080)ttG>ttA	p.L360L	MNS1_uc010bfo.2_Silent_p.L228L|TEX9_uc002adp.3_Intron|TEX9_uc010ugl.2_Intron	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN	Homo sapiens meiosis-specific nuclear structural 1 (MNS1), mRNA.	360	Glu-rich.				meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CTAATTCCTTCAAGGCCATTT	0.338000														83			24		0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28508889	28508889	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:28508889G>A	uc002dqb.2	+	1	2560	c.2527G>A	c.(2527-2529)Gcc>Acc	p.A843T	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.A372T	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	834	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCGGGTAGAGGCCGAGGAATC	0.662000														10			4		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31896655	31896655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31896655G>A	uc003nyf.3	+	2	667	c.403G>A	c.(403-405)Ggc>Agc	p.G135S	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.G135S|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Missense_Mutation_p.G106S|CFB_uc011dor.2_Intron	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	149	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCGCCCCAACGGCATGTGGGA	0.622000														49			22		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40078519	40078519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:40078519G>A	uc003ayc.3	+	34	5683	c.5683G>A	c.(5683-5685)Gag>Aag	p.E1895K	CACNA1I_uc003ayd.3_Missense_Mutation_p.E1860K|CACNA1I_uc003aye.3_Missense_Mutation_p.E1810K|CACNA1I_uc003ayf.3_Missense_Mutation_p.E1775K	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1895					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGACCCACCTGAGCCCATGCG	0.607000														96			47		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138522699	138522699	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:138522699G>A	uc011kql.2	-	19	5854	c.5805C>T	c.(5803-5805)ctC>ctT	p.L1935L	KIAA1549_uc011kqi.2_Silent_p.L703L|KIAA1549_uc011kqk.2_Silent_p.L719L|KIAA1549_uc011kqj.2_Silent_p.L1919L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1935						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGAGCCGGAGGAGCTCCTCGC	0.617000			O	BRAF	pilocytic astrocytoma									35			13		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209788748	209788748	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:209788748C>T	uc001hhg.3	-	21	3777	c.3387G>A	c.(3385-3387)atG>atA	p.M1129I	LAMB3_uc009xco.3_Missense_Mutation_p.M1129I|LAMB3_uc001hhh.3_Missense_Mutation_p.M1129I	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	1129	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCTCCAACTCCATGTCTGAGG	0.587000														58			12		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754660	94754660	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94754660C>T	uc001yct.3	-	2	1421	c.955G>A	c.(955-957)Gac>Aac	p.D319N	SERPINA10_uc001ycu.4_Missense_Mutation_p.D319N	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.	319					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)		TCCACCAAGTCTGTGGTCAGG	0.502000														94			11		0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606842	55606842	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55606842C>T	uc010rio.2	+	0	615	c.615C>T	c.(613-615)gcC>gcT	p.A205A		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCACTGTTGCCACTTTTAATG	0.423000														99			30		0	0	1	0	0
ADRB1	153	broad.mit.edu	37	10	115804545	115804545	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115804545C>T	uc001lba.3	+	0	740	c.654C>T	c.(652-654)ttC>ttT	p.F218F		NM_000684	NP_000675	P08588	ADRB1_HUMAN	Homo sapiens adrenergic, beta-1-, receptor (ADRB1), mRNA.	218	Agonist and antagonist binding (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GCTGCGACTTCGTCACCAACC	0.662000														48			11		0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123821032	123821032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:123821032G>A	uc010tap.2	-	4	658	c.658C>T	c.(658-660)Cct>Tct	p.P220S	SBNO1_uc010tao.2_Missense_Mutation_p.P219S|SBNO1_uc010taq.2_Intron|SBNO1_uc001ueu.2_Missense_Mutation_p.P219S|SBNO1_uc001uet.2_Missense_Mutation_p.P220S|SBNO1_uc001uev.2_Missense_Mutation_p.P218S|SBNO1_uc009zxy.1_Missense_Mutation_p.P185S	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	220							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		tttACAACAGGAACCTTCTGC	0.418000														29			11		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11702695	11702695	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:11702695C>T	uc002rbk.1	+	2	564	c.264C>T	c.(262-264)tgC>tgT	p.C88C	GREB1_uc002rbl.3_Silent_p.C88C|GREB1_uc002rbm.3_5'UTR|GREB1_uc002rbn.1_Silent_p.C88C	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	88						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTGAAGGATGCTGTACCACAG	0.627000														109			21		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	333251	333251	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:333251G>A	uc001qic.2	-	10	1308	c.1218C>T	c.(1216-1218)taC>taT	p.Y406Y	SLC6A13_uc009zdj.2_Silent_p.Y396Y|SLC6A13_uc010sdl.2_Silent_p.Y314Y	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	406					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ACACGTGAGGGTACATGTCCA	0.562000														42			14		0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48181838	48181838	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48181838G>A	uc010slo.2	-	19	2540	c.2345C>T	c.(2344-2346)gCt>gTt	p.A782V	HDAC7_uc001rqe.3_Missense_Mutation_p.A216V|HDAC7_uc001rqj.4_Missense_Mutation_p.A745V|HDAC7_uc001rqk.4_Missense_Mutation_p.A765V|HDAC7_uc010slp.2_5'UTR	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	743	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CTCATCCACAGCCCCACTCCC	0.572000														44			11		0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102742658	102742658	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102742658C>T	uc001phk.3	-	2	472	c.375G>A	c.(373-375)atG>atA	p.M125I		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	125					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D124E(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	CCTCACGGTTCATGTCAGGTG	0.388000														22			9		0	0	1	0	0
PABPC1L	80336	broad.mit.edu	37	20	43541387	43541387	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43541387C>T	uc010ggv.1	+	1	362	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	PABPC1L_uc010zwq.1_Non-coding_Transcript	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.	94							RNA binding|nucleotide binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CCCAGGACTTCGCAAGTCAGG	0.512000														77			16		0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68947229	68947229	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:68947229G>A	uc001dem.4	-	8	1946	c.1829C>T	c.(1828-1830)cCc>cTc	p.P610L	DEPDC1_uc001dej.4_5'UTR|DEPDC1_uc001dek.4_Non-coding_Transcript|DEPDC1_uc001del.4_Missense_Mutation_p.P326L	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA.	610	Interaction with ZNF224.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ATTTGGTGGGGGAAGTAACAA	0.413000														21			14		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502893	90502893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90502893C>T	uc004app.4	+	3	3526	c.3491C>T	c.(3490-3492)tCc>tTc	p.S1164F		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1164						integral to membrane											ATGACAGCTTCCCAGGGGCCA	0.617000														23			15		0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208773295	208773295	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:208773295G>A	uc002vcl.2	-	5	2383	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	PLEKHM3_uc002vcm.2_Missense_Mutation_p.S646F	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	631					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTCTCTGGGGAAAATTCTGA	0.438000														62			24		0	0	1	0	0
O3FAR1	338557	broad.mit.edu	37	10	95335847	95335847	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95335847G>A	uc010qnt.2	+	2	624	c.568_splice	c.e2-1	p.E190_splice	O3FAR1_uc010qnu.2_Splice_Site_p.E190_splice	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	190					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding	p.?(1)		breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						TTTGTAACTAGGAAATTTCGA	0.438000														94			42		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94508333	94508333	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94508333G>A	uc001dqh.3	-	21	3416	c.3312C>T	c.(3310-3312)ctC>ctT	p.L1104L		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1104	ABC transporter 1.				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)		GATACTTCAGGAGCAGATCCC	0.572000														37			16		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44974582	44974582	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:44974582C>T	uc001wvn.3	-	0	1918	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	537	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GCAGGAGTTTCATCTGCAGGA	0.488000														29			20		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19176015	19176015	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:19176015G>A	uc001bba.1	-	3	1288	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	429					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCAGGAGAGTGAAGTTGACCT	0.562000														50			10		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6750959	6750959	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:6750959C>T	uc002wmu.1	+	1	971	c.186C>T	c.(184-186)ggC>ggT	p.G62G		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	62					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	GCATGTTCGGCCTGAAACAGA	0.682000														27			7		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71709035	71709035	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71709035C>T	uc010fen.3	+	2	315	c.174C>T	c.(172-174)atC>atT	p.I58I	DYSF_uc010fei.3_Silent_p.I57I|DYSF_uc010feh.3_Silent_p.I57I|DYSF_uc002sig.4_Silent_p.I57I|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.I57I|DYSF_uc010fee.3_Silent_p.I57I|DYSF_uc010fef.3_Silent_p.I57I|DYSF_uc002sie.3_Silent_p.I57I|DYSF_uc010feo.3_Silent_p.I58I|DYSF_uc010fej.3_Silent_p.I58I|DYSF_uc010fel.3_Silent_p.I58I|DYSF_uc010fem.3_Silent_p.I58I|DYSF_uc002sif.3_Silent_p.I58I|DYSF_uc010fek.3_Silent_p.I58I	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	57	C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCAAGGGCATCCCCCTGGACC	0.537000														26			11		0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40998146	40998146	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:40998146C>T	uc002ibu.3	+	0	1538	c.1503C>T	c.(1501-1503)ctC>ctT	p.L501L	AOC2_uc002ibt.3_Silent_p.L501L	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	501					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGGAGGGCCTCCTCTTTGGGA	0.567000														56			32		0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1811607	1811607	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:1811607G>A	uc002ltw.3	-	1	363	c.129C>T	c.(127-129)atC>atT	p.I43I	ATP8B3_uc002ltv.3_5'UTR|ATP8B3_uc002ltx.3_Non-coding_Transcript|ATP8B3_uc002ltz.1_5'UTR	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	43					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)		CACCTCCGCGGATGCCAGCAG	0.667000														23			9		0	0	1	0	0
PXK	54899	broad.mit.edu	37	3	58368345	58368345	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58368345G>A	uc003djz.1	+	3	405	c.306G>A	c.(304-306)gtG>gtA	p.V102V	PXK_uc003djx.1_Silent_p.V102V|PXK_uc003dka.1_Silent_p.V102V|PXK_uc003dkb.1_Silent_p.V19V|PXK_uc003dkc.1_Silent_p.V85V|PXK_uc011bfe.1_Silent_p.V69V|PXK_uc010hnj.1_Silent_p.V69V|PXK_uc003dkd.1_Intron|PXK_uc010hnk.1_5'UTR	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	Homo sapiens PX domain containing serine/threonine kinase (PXK), mRNA.	102	PX.|Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	ATP binding|actin binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	p.N101S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		ATCTCAACGTGATCACAACAA	0.388000														56			25		0	0	1	0	0
C20orf94	128710	broad.mit.edu	37	20	10603749	10603749	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:10603749C>T	uc010zre.2	+	7	1129	c.949C>T	c.(949-951)Cga>Tga	p.R317*		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	317			R -> Q (in dbSNP:rs6077853).				protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						TGGAAGTGATCGATTAGTCCC	0.458000														125			33		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855900	12855900	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12855900C>T	uc001auj.2	+	3	1283	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	394								p.L394Q(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TATTGACGCCCTGAAGGACCT	0.552000														206			43		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128489559	128489559	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128489559C>T	uc003vnz.4	+	29	5335	c.5126C>T	c.(5125-5127)cCc>cTc	p.P1709L	FLNC_uc003voa.4_Missense_Mutation_p.P1709L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1709					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.P1709P(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TACACAGCGCCCGAGCCGGGC	0.582000														42			25		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80770937	80770937	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:80770937C>T	uc001szd.3	+	56	6795	c.6789C>T	c.(6787-6789)atC>atT	p.I2263I	OTOGL_uc021rba.1_Silent_p.I282I|OTOGL_uc009zsg.2_Silent_p.I143I	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGAAAGTGATCATTAAATCGG	0.308000														32			10		0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031883	32031883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:32031883C>T	uc011axg.2	+	1	1861	c.1312C>T	c.(1312-1314)Cgt>Tgt	p.R438C	ZNF860_uc021wuv.1_Missense_Mutation_p.R438C	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R437H(1)		endometrium(3)|lung(4)|ovary(1)	8						TTTTAGACGTCGTTCATATCT	0.378000														68			18		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8478937	8478937	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:8478937C>T	uc001mgi.1	-	4	1567	c.648G>A	c.(646-648)agG>agA	p.R216R	STK33_uc001mgj.1_Silent_p.R216R|STK33_uc001mgk.1_Silent_p.R216R|STK33_uc010rbn.1_Silent_p.R175R|STK33_uc001mgl.3_Silent_p.R29R|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	216	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GAATGATCCACCTTGTCTCAT	0.393000														66			23		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369660	56369660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56369660G>A	uc002qmd.4	+	2	1323	c.901G>A	c.(901-903)Gga>Aga	p.G301R	NLRP4_uc002qmf.3_Missense_Mutation_p.G226R|NLRP4_uc010etf.3_Missense_Mutation_p.G132R	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	301	NACHT.						ATP binding	p.G301R(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCAGCCCCGGGGATTCAACGA	0.512000														66			21		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188190	152188190	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152188190C>T	uc001ezt.1	-	2	5991	c.5915G>A	c.(5914-5916)gGg>gAg	p.G1972E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1972					keratinization		calcium ion binding|protein binding	p.S1971*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAAGACCACCCTGAGCCAGA	0.607000														726			33		0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34502056	34502056	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34502056C>T	uc002xek.1	+	11	1873	c.1762C>T	c.(1762-1764)Cat>Tat	p.H588Y		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GCCAGGGGTCCATATGAGCCC	0.537000														61			30		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2022194	2022195	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2022194_2022195CC>TT	uc021qsx.1	-	2	651_652	c.420_421GG>AA	c.(418-423)gcggtc>gcAAtc	p.V141I	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.V141I	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	141						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.V141I(3)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGTACCTGGACCGCCTCGACTT	0.599000														19			4		0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49742868	49742868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:49742868C>T	uc001vcm.3	+	9	1462	c.1157C>T	c.(1156-1158)tCa>tTa	p.S386L	FNDC3A_uc001vcn.3_Missense_Mutation_p.S386L|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcp.1_Missense_Mutation_p.S330L|FNDC3A_uc001vcq.3_Missense_Mutation_p.S330L	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	386	Fibronectin type-III 2.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ACCAAAAATTCACTCACTTTG	0.398000														156			55		0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6483644	6483644	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6483644G>A	uc001qnw.3	-	0	747	c.483C>T	c.(481-483)ttC>ttT	p.F161F	SCNN1A_uc001qnx.3_Silent_p.F102F|SCNN1A_uc010sfb.2_Silent_p.F125F|LTBR_uc010sfc.1_5'Flank	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	102					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	AAAGCAGGCCGAATTGCCAGT	0.587000														68			9		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322559	55322559	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55322559C>T	uc010rig.2	+	0	777	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GTGGGTTTATCTGCATCATAA	0.468000										HNSCC(20;0.049)				60			35		0	0	1	0	0
GBP3	2635	broad.mit.edu	37	1	89481012	89481012	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:89481012G>A	uc001dmt.3	-	2	481	c.276C>T	c.(274-276)acC>acT	p.T92T	GBP3_uc010oss.2_Silent_p.T13T|GBP3_uc001dmu.3_5'UTR|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Silent_p.T92T	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	92						integral to membrane	GTP binding|GTPase activity	p.T92I(2)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GCAGGACTAAGGTGTGTTCTG	0.458000														131			48		0	0	1	0	0
ZNF268	10795	broad.mit.edu	37	12	133780482	133780482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:133780482C>T	uc010tch.2	+	5	2416	c.2210C>T	c.(2209-2211)tCa>tTa	p.S737L	ZNF268_uc010tbv.1_Missense_Mutation_p.S576L|ZNF268_uc010tbz.1_Missense_Mutation_p.S576L|ZNF268_uc010tcc.1_Missense_Mutation_p.S576L|ZNF268_uc010tcd.1_Missense_Mutation_p.S576L|ZNF268_uc010tbx.2_3'UTR|ZNF268_uc010tbw.2_3'UTR|ZNF268_uc010tce.2_3'UTR|ZNF268_uc010tcg.2_3'UTR|ZNF268_uc010tca.2_3'UTR|ZNF268_uc010tcf.2_Missense_Mutation_p.S737L|ZNF268_uc010tcb.2_3'UTR|ZNF268_uc021rgu.1_Missense_Mutation_p.S654L	NM_001165881	NP_001159354	Q14587	ZN268_HUMAN	Homo sapiens zinc finger protein 268 (ZNF268), transcript variant 2, mRNA.	737						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AGTTTCAATTCACAACTCATT	0.408000														16			3		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232171	117232171	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:117232171C>T	uc003vjd.3	+	13	2082	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	CFTR_uc011knq.2_Silent_p.F56F	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	650					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.F650F(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GTGATTCTTTCGACCAATTTA	0.383000									Cystic Fibrosis					92			14		0	0	1	0	0
PABPC1L	80336	broad.mit.edu	37	20	43559289	43559289	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43559289C>T	uc010ggv.1	+	7	1243	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	PABPC1L_uc010zwq.1_Non-coding_Transcript|PABPC1L_uc002xmv.2_Non-coding_Transcript|PABPC1L_uc002xmw.2_5'Flank|PABPC1L_uc002xmx.3_5'Flank	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.	387							RNA binding|nucleotide binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCGCCTCTCCACCATGCGGA	0.652000														231			42		0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111923659	111923659	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:111923659G>A	uc001tsj.3	-	16	2957	c.2795C>T	c.(2794-2796)tCt>tTt	p.S932F	ATXN2_uc001tsh.3_Missense_Mutation_p.S667F|ATXN2_uc001tsi.3_Missense_Mutation_p.S643F|ATXN2_uc001tsk.3_Non-coding_Transcript	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	932	Pro-rich.				RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGGGGTAGTAGAAGGCTTTGG	0.398000														38			13		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70526220	70526220	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:70526220G>A	uc002lkw.3	-	3	594	c.310C>T	c.(310-312)Cga>Tga	p.R104*	NETO1_uc002lky.2_Nonsense_Mutation_p.R104*|NETO1_uc002lkz.3_Nonsense_Mutation_p.R103*	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	104	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GGTCCATCTCGAACTTCAATA	0.378000														67			29		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155485641	155485641	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:155485641G>A	uc003qqb.3	+	9	3394	c.2121G>A	c.(2119-2121)ccG>ccA	p.P707P	TIAM2_uc003qqe.3_Silent_p.P707P|TIAM2_uc010kjj.3_Silent_p.P240P|TIAM2_uc003qqf.3_Silent_p.P59P|TIAM2_uc011efl.1_Silent_p.P19P|TIAM2_uc003qqg.3_Silent_p.P19P	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	707					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGGAGTTACCGAACCCAAAGA	0.542000														88			62		0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242285635	242285635	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242285635C>T	uc002wbh.3	+	13	1389	c.927C>T	c.(925-927)ttC>ttT	p.F309F	SEPT2_uc002wbc.3_Silent_p.F299F|SEPT2_uc002wbd.3_Silent_p.F299F|SEPT2_uc002wbf.3_Silent_p.F299F|SEPT2_uc002wbg.3_Silent_p.F299F|SEPT2_uc010zop.2_Silent_p.F334F	NM_006155	NP_006146	Q15019	SEPT2_HUMAN	Homo sapiens septin 2 (SEPT2), transcript variant 2, mRNA.	299					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		ATGAAAACTTCCGTTCTGAGA	0.507000														62			11		0	0	1	0	0
TBPL2	387332	broad.mit.edu	37	14	55903639	55903639	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:55903639G>A	uc001xby.3	-	1	248	c.248C>T	c.(247-249)tCg>tTg	p.S83L		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	83					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding	p.S83L(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TTCAGGGTTCGAATTAAATGC	0.448000														97			28		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25585831	25585831	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:25585831G>T	uc002kwg.2	-	5	1288	c.829C>A	c.(829-831)Cct>Act	p.P277T	CDH2_uc010xbn.1_Missense_Mutation_p.P246T	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	277	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATCCCTCAGGAACTGTCCCA	0.398000														98			33		1.22384e-17	1.23007e-17	1	1	0
ST8SIA3	51046	broad.mit.edu	37	18	55024477	55024477	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:55024477C>T	uc002lgn.3	+	2	993	c.636C>T	c.(634-636)ccC>ccT	p.P212P		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	212					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CCTTCAACCCCAGCATCCTGG	0.398000														103			31		0	0	1	0	0
C13orf33	84935	broad.mit.edu	37	13	31495738	31495738	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:31495738G>A	uc001uth.4	+	3	883	c.542G>A	c.(541-543)gGa>gAa	p.G181E	TEX26-AS1_uc001utg.2_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	Homo sapiens chromosome 13 open reading frame 33 (C13orf33), mRNA.	181										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		TTCCCCCCAGGAAATGAAGTG	0.358000														77			33		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28575418	28575418	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:28575418C>T	uc003xgz.1	+	2	2435	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	614						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.F614S(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCCATCTTTTCCCCCACACTC	0.572000														116			22		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52573812	52573812	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:52573812C>T	uc001jjj.3	-	9	1340	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	A1CF_uc010qho.2_Missense_Mutation_p.M392I|A1CF_uc010qhn.2_Intron|A1CF_uc009xov.3_Intron|A1CF_uc001jji.3_Intron|A1CF_uc001jjh.3_Intron	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	384	Required for nuclear localization.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CAGGTACATTCATGTAAATTT	0.468000														65			26		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128786428	128786428	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:128786428C>T	uc001qet.3	+	2	1376	c.1062C>T	c.(1060-1062)acC>acT	p.T354T	KCNJ5_uc009zck.3_Silent_p.T354T|KCNJ5_uc001qew.3_Silent_p.T354T	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	354					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TCCATGATACCTATGAGACCA	0.577000														131			51		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6678411	6678411	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6678411G>A	uc002mfm.3	-	38	4748	c.4686C>T	c.(4684-4686)atC>atT	p.I1562I		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1562	NTR.				G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CAATGGCCATGATGTACTCGT	0.577000														26			11		0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237279	56237279	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56237279C>T	uc010rjk.2	-	0	736	c.695G>A	c.(694-696)aGg>aAg	p.R232K	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GGCCTTCTGCCTTCCTTCTGC	0.443000														72			27		0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40433618	40433618	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:40433618G>A	uc003ckd.4	+	2	237	c.145G>A	c.(145-147)Gag>Aag	p.E49K	ENTPD3_uc010hhy.3_Missense_Mutation_p.E49K|ENTPD3-AS1_uc003cke.4_Non-coding_Transcript	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	49						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CCACAAGCAAGAGGTCCTCCC	0.468000														84			24		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5222727	5222727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:5222727G>A	uc002mbv.3	-	17	3310	c.3076C>T	c.(3076-3078)Cgc>Tgc	p.R1026C	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.2_Intron|PTPRS_uc002mbw.3_Missense_Mutation_p.R1004C|PTPRS_uc002mbx.3_Intron|PTPRS_uc002mby.3_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1026	Fibronectin type-III 7.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GTCCGGTAGCGGACGGGGGGG	0.746000														21			5		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72233977	72233977	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:72233977G>A	uc003xyu.3	-	5	1050	c.410C>T	c.(409-411)tCc>tTc	p.S137F	EYA1_uc003xyt.4_Missense_Mutation_p.S104F|EYA1_uc003xyr.4_Missense_Mutation_p.S137F|EYA1_uc010lzf.3_Missense_Mutation_p.S64F|EYA1_uc003xys.4_Missense_Mutation_p.S137F|EYA1_uc011lfe.2_Missense_Mutation_p.S136F|EYA1_uc003xyv.3_Missense_Mutation_p.S20F	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	137					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ACCATATGAGGAAATGCCGTA	0.488000														34			14		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48438674	48438674	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48438674C>T	uc001jfb.3	-	0	465	c.37G>A	c.(37-39)Ggg>Agg	p.G13R	GDF10_uc009xnp.3_Missense_Mutation_p.G13R|GDF10_uc009xnq.2_Missense_Mutation_p.G13R	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	13					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						agcTGGGGCCCGGGTCCCGGG	0.726000														25			5		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220156210	220156210	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220156210G>A	uc002vkz.3	-	19	2952	c.2711C>T	c.(2710-2712)cCc>cTc	p.P904L	PTPRN_uc010zlc.2_Missense_Mutation_p.P814L|PTPRN_uc002vla.3_Missense_Mutation_p.P875L	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	904	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CACGATGATGGGGCAGGAGCG	0.592000														39			14		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32379054	32379054	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:32379054C>T	uc002wzy.3	+	14	2316	c.2296C>T	c.(2296-2298)Ccc>Tcc	p.P766S	ZNF341_uc002wzx.3_Missense_Mutation_p.P759S|ZNF341_uc010geq.3_Missense_Mutation_p.P676S|ZNF341_uc010ger.3_Non-coding_Transcript|ZNF341_uc002wzz.3_Missense_Mutation_p.P193S	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	766					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGTGCTGACCCCCTTGCCTGA	0.721000														29			15		0	0	1	0	0
GLT25D2	23127	broad.mit.edu	37	1	183944265	183944265	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:183944265C>T	uc001gqr.3	-	2	830	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	GLT25D2_uc010poj.1_Missense_Mutation_p.R153Q|GLT25D2_uc001gqs.3_Missense_Mutation_p.R33Q	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	153					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	p.R153Q(2)|p.R153R(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						CCTCGCAGTTCGAAGGGCTGC	0.423000														86			32		0	0	1	0	0
PRH2	5555	broad.mit.edu	37	12	11083393	11083393	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:11083393G>A	uc009zhr.3	+	2	272	c.233G>A	c.(232-234)gGc>gAc	p.G78D	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|PRH2_uc001qzh.3_Missense_Mutation_p.G78D|PRH2_uc001qzi.4_Missense_Mutation_p.G78D	NM_001110213	NP_005033	P02810	PRPC_HUMAN	Homo sapiens proline-rich protein HaeIII subfamily 2 (PRH2), transcript variant 2, mRNA.	78						extracellular space	protein binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						CAACAAGGAGGCCAGCAGCAA	0.607000														79			24		0	0	1	0	0
ASB17	127247	broad.mit.edu	37	1	76397716	76397716	+	Silent	SNP	G	A	A	rs11811988		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:76397716G>A	uc001dhe.2	-	0	401	c.261C>T	c.(259-261)ctC>ctT	p.L87L	ASB17_uc001dhf.2_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA.	87					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CAGTGAAGTCGAGGTTAAAAC	0.378000														68			7		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84683354	84683354	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:84683354C>T	uc002bjz.4	+	23	4258	c.4034C>T	c.(4033-4035)tCc>tTc	p.S1345F	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.S1345F	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1345	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGCAATGTTTCCTTGCTTTTC	0.428000														176			53		0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55655610	55655610	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55655610G>A	uc010rip.2	+	3	702	c.610G>A	c.(610-612)Gag>Aag	p.E204K	TRIM51_uc010riq.2_Missense_Mutation_p.E61K	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	204						intracellular	zinc ion binding	p.E204K(1)|p.E45K(1)									GCTGCGAAAGGAGGGCGAGGA	0.423000														70			33		0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43982259	43982259	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43982259C>T	uc002zbj.3	+	11	2035	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	SLC37A1_uc002zbi.3_Silent_p.P351P	NM_018964	NP_061837	P57057	GLPT_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 1 (SLC37A1), mRNA.	351					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						TCTGGCTGCCCCTGTACATCA	0.507000														106			30		0	0	1	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31967359	31967359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31967359G>A	uc010gek.3	-	8	1181	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	CDK5RAP1_uc002wyy.3_Missense_Mutation_p.R249C|CDK5RAP1_uc002wyz.3_Missense_Mutation_p.R339C|CDK5RAP1_uc002wza.3_Missense_Mutation_p.R339C|CDK5RAP1_uc010gel.3_Missense_Mutation_p.R249C|CDK5RAP1_uc010gem.3_Intron|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.R339C	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA.	353					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	p.R339C(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TGAGCAAAACGAAGTCCTCCT	0.483000														39			23		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188219	7188219	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7188219G>A	uc010sfy.2	-	8	1560	c.1501C>T	c.(1501-1503)Cct>Tct	p.P501S		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	579	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	TCGTTGTCAGGGAGGCAGATG	0.552000														31			18		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841626	94841626	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:94841626G>A	uc002btj.3	+	0	197	c.132G>A	c.(130-132)ttG>ttA	p.L44L	MCTP2_uc010urg.1_Silent_p.L44L|MCTP2_uc002bti.2_Silent_p.L44L|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Silent_p.L44L|MCTP2_uc002btg.4_Silent_p.L44L|MCTP2_uc002bth.4_Silent_p.L44L	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	44					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGCATCACTTGGACCGCCGTC	0.572000														107			24		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38760200	38760200	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38760200C>T	uc003ciq.3	-	19	3625	c.3625G>A	c.(3625-3627)Ggc>Agc	p.G1209S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1209					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTTTTGAAGCCATAGGCCACC	0.527000														96			30		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140532154	140532154	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140532154C>T	uc003lir.3	+	0	2316	c.2316C>T	c.(2314-2316)ttC>ttT	p.F772F		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	772					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCCCAACTTCCCTCCTCAGG	0.483000														96			26		0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37707082	37707082	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37707082C>T	uc003arf.3	+	9	978	c.862C>T	c.(862-864)Ctc>Ttc	p.L288F	CYTH4_uc011amw.2_Missense_Mutation_p.L231F	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	288	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CGACAACTGCCTCTACTACTT	0.627000														128			48		0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094150	46094150	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46094150G>A	uc002pcm.3	-	1	1920	c.975C>T	c.(973-975)acC>acT	p.T325T	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.T325T	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	325						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		AGGTGAGTGGGGTCTCCAGGG	0.662000														93			11		0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5147850	5147850	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:5147850C>T	uc001ihr.3	+	7	1093	c.910C>T	c.(910-912)Cac>Tac	p.H304Y	AKR1C3_uc021pml.1_Missense_Mutation_p.H304Y|AKR1C3_uc010qap.2_Missense_Mutation_p.H281Y|AKR1C3_uc001ihu.3_Missense_Mutation_p.H304Y	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	304					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	CAGAAATCTCCACTATTTTAA	0.358000														35			13		0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72290353	72290353	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:72290353G>A	uc010rrc.2	-	26	2577	c.2331C>T	c.(2329-2331)ttC>ttT	p.F777F	PDE2A_uc001oso.3_Silent_p.F756F|PDE2A_uc010rra.2_Silent_p.F770F|PDE2A_uc001osn.3_Silent_p.F521F|PDE2A_uc010rrb.2_Silent_p.F768F|PDE2A_uc010rrd.2_Silent_p.F662F	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	777	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.I776M(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GGAGGTCCTTGAAGATGCGGA	0.602000														78			43		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524132	24524132	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:24524132C>T	uc002wtw.1	+	1	1032	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	133					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ATGGGAAGTTCATTGACCTCT	0.587000														117			51		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57437680	57437680	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57437680C>T	uc001smw.4	-	9	1092	c.852G>A	c.(850-852)caG>caA	p.Q284Q	MYO1A_uc010sqz.2_Silent_p.Q122Q|MYO1A_uc009zpd.3_Silent_p.Q284Q	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	284	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCCCACTGGCCTGGAACTCAT	0.552000														36			15		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169632887	169632887	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169632887G>A	uc011cjx.2	+	9	1988	c.1777G>A	c.(1777-1779)Ggc>Agc	p.G593S	PALLD_uc003iru.3_Missense_Mutation_p.G593S|PALLD_uc003irv.3_Missense_Mutation_p.G211S	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	593					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CCCTGAGTTAGGCCTGAGCAG	0.512000									Pancreatic Cancer, Familial Clustering of					42			26		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147481403	147481403	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:147481403G>A	uc003lox.2	+	14	1435	c.1362G>A	c.(1360-1362)gaG>gaA	p.E454E	SPINK5_uc010jgs.1_Silent_p.E426E|SPINK5_uc010jgr.2_Silent_p.E435E|SPINK5_uc003low.2_Silent_p.E454E|SPINK5_uc003loy.2_Silent_p.E454E	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	454	Kazal-like 7.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCAGAGAGAATGACCCCA	0.493000														87			31		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18702854	18702854	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:18702854G>A	uc001bau.2	+	6	1449	c.1066G>A	c.(1066-1068)Ggg>Agg	p.G356R	IGSF21_uc001bav.2_Missense_Mutation_p.G177R	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	356	Ig-like 2.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		AGCCCGGGTAGGGGACACAGT	0.587000														189			61		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82837305	82837306	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:82837305_82837306CC>TT	uc003kii.3	+	7	8839_8840	c.8483_8484CC>TT	c.(8482-8484)ccc>cTT	p.P2828L	VCAN_uc003kij.3_Missense_Mutation_p.P1841L|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P1492L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2828	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCATCATCTCCCCTCACTATCT	0.500000														127			21		0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246811221	246811221	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:246811221C>T	uc001ibp.3	+	8	2096	c.1718C>T	c.(1717-1719)tCc>tTc	p.S573F	CNST_uc001ibo.4_Missense_Mutation_p.S573F	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	573					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GACGACGACTCCGATCTCCTT	0.408000														237			53		0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20666274	20666274	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20666274G>A	uc010tlb.2	+	0	780	c.780G>A	c.(778-780)gtG>gtA	p.V260V		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V259V(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTCTGGTCGTGAGAGCTGTGT	0.507000														251			51		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81545644	81545644	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81545644G>A	uc001szl.1	+	5	1034	c.943G>A	c.(943-945)Gga>Aga	p.G315R	ACSS3_uc001szm.1_Missense_Mutation_p.G314R|ACSS3_uc001szn.1_5'UTR	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	315						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCCCACTGGGGGATACGCTGT	0.383000														87			16		0	0	1	0	0
CLLU1	574028	broad.mit.edu	37	12	92818597	92818597	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:92818597G>A	uc001tcf.2	+	0	863	c.141G>A	c.(139-141)ctG>ctA	p.L47L	CLLU1OS_uc001tcb.1_Intron|CLLU1_uc001tcc.2_Intron|CLLU1_uc001tcd.2_Intron|CLLU1_uc001tce.1_Intron	NM_001025233	NP_001020404			Homo sapiens chronic lymphocytic leukemia up-regulated 1 (CLLU1), mRNA.											NS(1)|breast(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						TAAATAAGCTGATTATTTATT	0.313000														35			13		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138985	126138985	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:126138985C>T	uc001uhe.1	+	8	2974	c.2966C>T	c.(2965-2967)tCc>tTc	p.S989F	TMEM132B_uc001uhf.1_Missense_Mutation_p.S501F	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	989						integral to membrane		p.S988G(1)		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)		AATGGCAGTTCCCAGAAGACT	0.453000														22			15		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180566	124180566	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124180566C>T	uc010sag.2	-	0	97	c.97G>A	c.(97-99)Gga>Aga	p.G33R		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	33					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)		ACATAGATTCCCAGGAACAGG	0.483000														106			45		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124345586	124345586	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124345586C>T	uc001lgk.1	+	15	1576	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	DMBT1_uc001lgl.1_Silent_p.S480S|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Silent_p.S490S|DMBT1_uc021qag.1_Silent_p.S480S|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Silent_p.S490S|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.	490					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GATCTGAATCCAGTTTGGCCC	0.542000														312			119		0	0	1	0	0
ADCYAP1	116	broad.mit.edu	37	18	909582	909582	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:909582G>A	uc010dkg.3	+	4	596	c.477G>A	c.(475-477)ggG>ggA	p.G159G	ADCYAP1_uc010dkh.3_Silent_p.G159G	NM_001099733	NP_001108	P18509	PACA_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) (ADCYAP1), transcript variant 1, mRNA.	159					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CCGTCCTAGGGAAGAGGTATA	0.512000														199			40		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55223540	55223540	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55223540G>A	uc003tqk.3	+	7	1153	c.907G>A	c.(907-909)Gat>Aat	p.D303N	EGFR_uc003tqh.3_Missense_Mutation_p.D303N|EGFR_uc003tqi.3_Missense_Mutation_p.D303N|EGFR_uc003tqj.3_Missense_Mutation_p.D303N|EGFR_uc022adm.1_Missense_Mutation_p.D303N|EGFR_uc010kzg.2_Missense_Mutation_p.D258N|EGFR_uc022adn.1_Missense_Mutation_p.D258N|EGFR_uc011kco.2_Missense_Mutation_p.D250N|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	303					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.D303H(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGTGGTGACAGATCACGGCTC	0.597000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				81			16		0	0	1	0	0
FRRS1	391059	broad.mit.edu	37	1	100182983	100182983	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:100182983C>T	uc001dsh.1	-	10	1821	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.	407	Cytochrome b561.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CAAGCTGCTTCACCAAGCAAG	0.403000														126			42		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189590653	189590653	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:189590653G>A	uc003fry.2	+	9	1307	c.1218G>A	c.(1216-1218)agG>agA	p.R406R	TP63_uc003frx.2_Silent_p.R406R|TP63_uc003frz.2_Silent_p.R406R|TP63_uc010hzc.1_Silent_p.R406R|TP63_uc003fsa.2_Silent_p.R312R|TP63_uc003fsb.2_Silent_p.R312R|TP63_uc003fsc.2_Silent_p.R312R|TP63_uc003fsd.2_Silent_p.R312R|TP63_uc021xir.1_Silent_p.R312R|TP63_uc010hzd.1_Silent_p.R227R	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	406	Oligomerization.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CATAGGTGAGGGGCCGTGAGA	0.438000										HNSCC(45;0.13)				35			15		0	0	1	0	0
LYNX1	66004	broad.mit.edu	37	8	143846155	143846155	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:143846155G>A	uc003yxb.3	-	4	892	c.264C>T	c.(262-264)gtC>gtT	p.V88V	LYNX1_uc003yxa.3_Silent_p.V54V	NM_023946	NP_076435	Q86SR0	SLUR2_HUMAN	Homo sapiens Ly6/neurotoxin 1 (LYNX1), transcript variant 1, mRNA.	54	UPAR/Ly6.					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)					TGTTGCTGAGGACCCCTGAGT	0.622000														43			20		0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110454763	110454763	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:110454763C>T	uc003kpd.3	+	16	2134	c.2017C>T	c.(2017-2019)Cct>Tct	p.P673S	WDR36_uc010jbu.3_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	Homo sapiens WD repeat domain 36 (WDR36), mRNA.	673					rRNA processing|response to stimulus|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TTCTATGTCTCCTACTGGAGA	0.373000														142			56		0	0	1	0	0
RNASE7	84659	broad.mit.edu	37	14	21511371	21511371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21511371G>A	uc021rou.1	+	0	220	c.220G>A	c.(220-222)Gag>Aag	p.E74K	NDRG2_uc010tll.2_Intron|RNASE7_uc001vzk.4_Missense_Mutation_p.E74K|RNASE7_uc001vzl.2_Non-coding_Transcript	NM_032572	NP_115961	Q9H1E1	RNAS7_HUMAN	Homo sapiens ribonuclease, RNase A family, 7 (RNASE7), mRNA.	74					defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CTTCCTGCACGAGCCTTTCTC	0.542000														92			26		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476693	140476693	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140476693C>T	uc003lil.3	+	0	2457	c.2319C>T	c.(2317-2319)atC>atT	p.I773I	PCDHB2_uc003lim.1_Silent_p.I434I	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	773					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCAATTATCCCCAACTTCG	0.512000														89			39		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4947742	4947743	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:4947742_4947743CC>TT	uc002cyd.1	-	8	995_996	c.905_906GG>AA	c.(904-906)tgg>tAA	p.W302*		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	302					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGTACTCCTTCCAGTCTGCGTG	0.604000														29			19		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907225	164907225	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:164907225C>T	uc003fej.4	-	1	1838	c.1394G>A	c.(1393-1395)gGc>gAc	p.G465D	SLITRK3_uc003fek.3_Missense_Mutation_p.G465D|SLITRK3_uc021xgy.1_Missense_Mutation_p.G465D	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	465						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TATATCGTTGCCATTAAGGAA	0.463000										HNSCC(40;0.11)				44			14		0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38098611	38098611	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:38098611G>A	uc002yvr.2	+	5	791	c.735G>A	c.(733-735)ctG>ctA	p.L245L	SIM2_uc002yvq.3_Silent_p.L245L	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	245	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TGATATTCCTGGATTCCAGGT	0.562000														21			9		0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409675	59409675	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:59409675G>A	uc003xtm.4	-	2	459	c.396C>T	c.(394-396)acC>acT	p.T132T		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	132					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGCCCTGCAGGGTTTTGATGA	0.458000									Neonatal Giant Cell Hepatitis					89			36		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580483	140580483	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140580483G>A	uc003liy.3	+	0	1136	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	379	Cadherin 4.				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)			GGGGACAACGGAAGAATTGTT	0.433000														114			35		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116548868	116548868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:116548868C>T	uc002tle.3	+	18	1669	c.1648C>T	c.(1648-1650)Cct>Tct	p.P550S	DPP10_uc002tla.2_Missense_Mutation_p.P546S|DPP10_uc002tlb.2_Missense_Mutation_p.P496S|DPP10_uc002tlc.2_Missense_Mutation_p.P542S|DPP10_uc002tlf.2_Missense_Mutation_p.P539S	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	546					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAAAGAACTTCCTTTACAGTT	0.313000														104			43		0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26586932	26586932	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:26586932C>T	uc001mqw.3	-	2	828	c.555G>A	c.(553-555)gtG>gtA	p.V185V	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Silent_p.V158V|MUC15_uc001mqy.3_Silent_p.V185V	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	158						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CAGGAGTTTTCACGGTGTCAT	0.448000														120			49		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20525739	20525740	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:20525739_20525740CC>TT	uc003gpr.1	+	13	1581_1582	c.1377_1378CC>TT	c.(1375-1380)agcccc>agTTcc	p.P460S	SLIT2_uc003gps.1_Missense_Mutation_p.P460S	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	460	LRRCT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTTGCACCAGCCCCCGCCGCCT	0.485000														197			47		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78944602	78944602	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:78944602G>A	uc001jxn.3	-	3	852	c.675C>T	c.(673-675)ttC>ttT	p.F225F	KCNMA1_uc021ptu.1_Silent_p.F171F|KCNMA1_uc001jxj.2_Silent_p.F225F|KCNMA1_uc001jxk.1_5'Flank|KCNMA1_uc009xrt.1_Silent_p.F45F|KCNMA1_uc001jxo.3_Silent_p.F225F|KCNMA1_uc001jxm.3_Silent_p.F225F|KCNMA1_uc001jxq.3_Silent_p.F225F	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	225					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AGTAGAGAAGGAAGAACACGT	0.453000														99			33		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753258	76753258	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:76753258C>T	uc002lmt.3	+	1	1267	c.1267C>T	c.(1267-1269)Cgc>Tgc	p.R423C	SALL3_uc010dra.3_Missense_Mutation_p.R30C	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCACAAATGCCGCTTCTGCGC	0.642000														15			8		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655181	19655181	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19655181C>T	uc002nmw.4	+	7	1930	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F	CILP2_uc002nmv.4_Silent_p.F609F	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	609						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGGTGACGTTCGTGGACCCCC	0.692000														111			53		0	0	1	0	0
SULT4A1	25830	broad.mit.edu	37	22	44234833	44234833	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:44234833G>A	uc003bee.1	-	3	538	c.422C>T	c.(421-423)tCt>tTt	p.S141F	SULT4A1_uc003bed.1_Missense_Mutation_p.S62F|SULT4A1_uc003bef.1_Non-coding_Transcript|SULT4A1_uc011aqb.1_Intron	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	Homo sapiens sulfotransferase family 4A, member 1 (SULT4A1), mRNA.	141					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CTGATAATAAGACACCACCAG	0.552000														59			21		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57422542	57422542	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57422542C>T	uc001cyp.3	-	2	358	c.291G>A	c.(289-291)ggG>ggA	p.G97G	C8B_uc010oon.2_Silent_p.G35G|C8B_uc010ooo.2_Silent_p.G45G	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	97	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.G97W(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGCACGGTTCCCCATGGAACT	0.522000														167			42		0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19136816	19136816	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19136816G>A	uc002nkz.1	-	2	403	c.383C>T	c.(382-384)tCt>tTt	p.S128F	SUGP2_uc002nkx.2_Missense_Mutation_p.S114F|SUGP2_uc002nla.1_Missense_Mutation_p.S114F|SUGP2_uc002nlb.2_Missense_Mutation_p.S114F|SUGP2_uc010xqk.1_Missense_Mutation_p.L16F	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	114					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ATCAGAGTGAGAAAATTCCAG	0.502000														73			44		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11706749	11706749	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:11706749T>C	uc002rbk.1	+	3	721	c.421T>C	c.(421-423)Ttg>Ctg	p.L141L	GREB1_uc002rbl.3_Silent_p.L141L|GREB1_uc002rbm.3_Silent_p.L31L|GREB1_uc002rbn.1_Silent_p.L141L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	141						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAAGAGGTTCTTGCCAGATGA	0.577000														105			42		0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38065836	38065836	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38065836C>T	uc003chm.3	-	0	443	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	PLCD1_uc003chn.3_Intron	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	0	PH.|Substrate binding (By similarity).				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	GTPase activating protein binding|calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ACCCAGCCTCCGTCCATTGAG	0.667000														34			15		0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17198950	17198950	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:17198950C>T	uc003wxm.3	-	5	893	c.654G>A	c.(652-654)gaG>gaA	p.E218E	MTMR7_uc003wxn.3_5'UTR	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	218	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TCTGCTCGTCCTCTAGGCACC	0.577000														40			7		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48624743	48624743	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48624743G>A	uc003ctz.2	-	22	3020	c.3019C>T	c.(3019-3021)Cca>Tca	p.P1007S		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1007	Fibronectin type-III 9.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGATCCCTGGAAGTGTCTGC	0.597000														6			5		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17697186	17697186	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:17697186C>T	uc002grm.3	+	2	1393	c.924C>T	c.(922-924)ctC>ctT	p.L308L	RAI1_uc002grn.1_Silent_p.L308L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	308	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACCAAAACCTCGCCAAGTATC	0.627000														68			34		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179505290	179505290	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179505290C>T	uc021vsy.1	-	169	33222	c.32997G>A	c.(32995-32997)agG>agA	p.R10999R	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.R4694R|TTN_uc021vta.1_Silent_p.R4627R|TTN_uc021vtb.1_Silent_p.R4502R|TTN_uc010fre.1_Silent_p.R877R|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_Silent_p.R214R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11926	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T10998R(1)		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)			CAGGAATCTTCCTTTCCCTTT	0.323000														126			26		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89925077	89925077	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89925077T>G	uc003kju.3	+	8	1656	c.1560T>G	c.(1558-1560)ttT>ttG	p.F520L	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	520					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAATAACATTTTTTCCTATGG	0.373000														30			9		0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30890998	30890998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30890998C>T	uc011dmz.2	+	23	2474	c.2393C>T	c.(2392-2394)cCt>cTt	p.P798L	VARS2_uc003nsc.2_Missense_Mutation_p.P768L|VARS2_uc011dmx.2_Missense_Mutation_p.P768L|VARS2_uc011dmy.2_Missense_Mutation_p.P628L|VARS2_uc011dna.2_Missense_Mutation_p.P766L|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_Missense_Mutation_p.P206L|VARS2_uc010jsg.2_Missense_Mutation_p.P140L|VARS2_uc010jsh.2_5'UTR	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	768					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GTGCCACAGCCTGCTGAGGAG	0.532000														130			30		0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55352346	55352346	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:55352346C>T	uc002lgw.3	-	14	1550	c.1430_splice	c.e14-1	p.G477_splice	LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	477					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CCCGATGGTCCCCTGAGAAAC	0.473000														123			9		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249913	52249913	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52249913C>T	uc021uyn.1	-	2	481	c.335G>A	c.(334-336)aGt>aAt	p.S112N	FPR1_uc002pxq.3_Missense_Mutation_p.S112N|FPR1_uc021uyo.1_Missense_Mutation_p.S112N	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	112					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)	CAGGAAGACACTTCCGAACAA	0.547000														69			21		0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106460850	106460850	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:106460850G>A	uc001tlj.1	-	6	3096	c.1716C>T	c.(1714-1716)atC>atT	p.I572I		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	572							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGTCATCGCTGATGACACTGG	0.617000														28			18		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70319451	70319451	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70319451C>T	uc001oqc.3	-	21	4987	c.4875G>A	c.(4873-4875)caG>caA	p.Q1625Q	SHANK2_uc010rqn.2_Silent_p.Q1101Q|SHANK2_uc001opz.3_Silent_p.Q1096Q|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Silent_p.Q27Q|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1312					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGGGCCGGCTCTGCAGGGTGA	0.617000														35			7		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179720208	179720208	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179720208G>A	uc002une.2	-	18	3044	c.2926C>T	c.(2926-2928)Cca>Tca	p.P976S	CCDC141_uc002unf.1_Missense_Mutation_p.P455S	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	401							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTATCACTTGGATAATTTAAG	0.294000														47			21		0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616180	248616180	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248616180C>T	uc001iek.1	+	0	82	c.82C>T	c.(82-84)Ctc>Ttc	p.L28F		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			CCCCGGGCTTCTCTTTGCAAT	0.527000														275			36		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181740436	181740436	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181740436G>A	uc009wxt.3	+	35	5084	c.4889G>A	c.(4888-4890)gGa>gAa	p.G1630E	CACNA1E_uc001gow.3_Missense_Mutation_p.G1630E|CACNA1E_uc009wxs.3_Missense_Mutation_p.G1611E|CACNA1E_uc001gox.1_Missense_Mutation_p.G856E|5S_rRNA_uc021pft.1_5'Flank	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1630					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						AAGGTATTTGGAAACATAAAA	0.463000														3			5		0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78695312	78695312	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:78695312G>A	uc003dqe.2	-	20	3076	c.2868C>T	c.(2866-2868)gtC>gtT	p.V956V	ROBO1_uc003dqc.2_Silent_p.V911V|ROBO1_uc003dqd.2_Silent_p.V911V|ROBO1_uc003dqb.2_Silent_p.V917V|ROBO1_uc010hoh.2_Silent_p.V148V|ROBO1_uc011bgl.1_Silent_p.V528V	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	956					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTCCACTGCTGACAGCTTCGC	0.348000														83			27		0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40778245	40778245	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:40778245G>A	uc003gvj.4	+	6	1500	c.1005G>A	c.(1003-1005)ttG>ttA	p.L335L	NSUN7_uc003gvi.4_Silent_p.L335L	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATCCTGACTTGAAGACCCTTT	0.308000														92			28		0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147863901	147863901	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:147863901C>T	uc021yfj.1	-	5	1165	c.1118G>A	c.(1117-1119)tGg>tAg	p.W373*	HTR4_uc021yfg.1_Intron|HTR4_uc021yfh.1_Intron|HTR4_uc010jgu.1_Intron|HTR4_uc021yfi.1_Intron|HTR4_uc011dby.1_Intron|HTR4_uc003lpn.3_Intron|HTR4_uc010jgv.3_Intron	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	359					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	AGGCTTTGTCCAATACCTTGC	0.388000														35			21		0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227159	35227159	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:35227159G>A	uc001bxw.4	+	0	304	c.304G>A	c.(304-306)Gag>Aag	p.E102K	GJB4_uc001bxv.1_Missense_Mutation_p.E102K	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	102					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CGAGGAACGCGAGCGCAAGCA	0.647000														22			13		0	0	1	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64698931	64698931	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64698931C>T	uc001obz.3	+	7	1208	c.915C>T	c.(913-915)ttC>ttT	p.F305F	PPP2R5B_uc001oby.3_Silent_p.F305F	NM_006244	NP_006235	Q15173	2A5B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA.	305					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TGGTGCAGTTCCTGGAGAAGG	0.602000														26			14		0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39597240	39597240	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:39597240G>A	uc001uwy.3	-	7	1465	c.592C>T	c.(592-594)Cct>Tct	p.P198S	PROSER1_uc001uwz.3_Missense_Mutation_p.P176S	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	198	Pro-rich.																TAAGGAACAGGTTTATGTGGA	0.378000														136			16		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79440623	79440623	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:79440623C>T	uc003hlb.2	+	66	10968	c.10528C>T	c.(10528-10530)Ctc>Ttc	p.L3510F		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3505					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGACACTGTTCTCTGGAGAAC	0.473000														167			90		0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35251398	35251398	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35251398G>A	uc010edn.1	-	3	696	c.308C>T	c.(307-309)tCt>tTt	p.S103F	ZNF599_uc010edm.2_Missense_Mutation_p.S66F	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTCCTGGAAAGAGGATTCCTC	0.428000														65			30		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167865839	167865839	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167865839G>T	uc001ger.3	-	6	1031	c.733C>A	c.(733-735)Cac>Aac	p.H245N	ADCY10_uc010plj.2_Missense_Mutation_p.H92N|ADCY10_uc009wvk.3_Missense_Mutation_p.H153N|ADCY10_uc009wvl.3_Missense_Mutation_p.H244N|ADCY10_uc009wvm.2_Non-coding_Transcript	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	245					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTACTTTTGTGCTCACCAGAA	0.398000														235			99		3.69185e-53	3.71554e-53	1	1	0
DHX34	9704	broad.mit.edu	37	19	47858339	47858339	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47858339C>T	uc010xyn.2	+	2	1098	c.749C>T	c.(748-750)aCc>aTc	p.T250I	DHX34_uc010elc.1_Missense_Mutation_p.T250I	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	250	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TCGGCGGCCACCAAGATTGTA	0.587000														94			17		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610225	47610225	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47610225G>A	uc001cqv.1	+	7	952	c.901G>A	c.(901-903)Gag>Aag	p.E301K	CYP4A22_uc009vyo.3_Missense_Mutation_p.E301K|CYP4A22_uc009vyp.3_Intron	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	301						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCCCAGATGGAGAATGGGAG	0.537000														154			31		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475717	120475717	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:120475717G>A	uc004bjz.3	+	2	1602	c.1311G>A	c.(1309-1311)atG>atA	p.M437I	TLR4_uc004bkb.3_Missense_Mutation_p.M237I|TLR4_uc004bka.3_Missense_Mutation_p.M397I	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	437					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGAAACAAATGAGTGAGTTTT	0.378000														77			20		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105423001	105423001	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105423001G>A	uc010axc.1	-	3	359	c.239C>T	c.(238-240)tCt>tTt	p.S80F	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_5'UTR	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	80						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTCCCAGCAGAACCTTGCCT	0.617000														92			36		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348709	140348709	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140348709C>T	uc003lii.3	+	0	2963	c.2358C>T	c.(2356-2358)tcC>tcT	p.S786S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.S786S	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	786					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)			GGAATGGCTCCCTCACCAAGA	0.512000														54			20		0	0	1	0	0
HAS1	3036	broad.mit.edu	37	19	52220436	52220436	+	Missense_Mutation	SNP	G	A	A	rs143266369	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52220436G>A	uc002pxn.1	-	1	747	c.734C>T	c.(733-735)tCg>tTg	p.S245L	HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_Missense_Mutation_p.S203L|HAS1_uc002pxo.1_Missense_Mutation_p.S238L|HAS1_uc002pxp.1_Missense_Mutation_p.S237L	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	238					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	p.M245I(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCTTGTGTCCGAGTCACAGAC	0.617000														46			20		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111540568	111540568	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:111540568C>T	uc003vfy.3	-	14	1611	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	DOCK4_uc003vfx.3_Missense_Mutation_p.E448K|DOCK4_uc003vga.1_Missense_Mutation_p.E53K	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	448	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GCTGGTGGCTCCCCAGAGCCG	0.453000														19			9		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75113409	75113409	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:75113409G>A	uc009xrc.3	-	2	276	c.155C>T	c.(154-156)cCa>cTa	p.P52L	TTC18_uc001jty.3_Missense_Mutation_p.P52L|TTC18_uc009xrd.1_5'UTR	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	52							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ACTTCCTTCTGGAGAAACAGT	0.403000														84			19		0	0	1	0	0
ANKRD54	129138	broad.mit.edu	37	22	38234576	38234576	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38234576G>A	uc003auc.3	-	2	514	c.406C>T	c.(406-408)Ccc>Tcc	p.P136S	ANKRD54_uc003aud.3_Missense_Mutation_p.P13S	NM_138797	NP_620152	Q6NXT1	ANR54_HUMAN	Homo sapiens ankyrin repeat domain 54 (ANKRD54), transcript variant 1, mRNA.	136										lung(1)	1	Melanoma(58;0.045)					GCTGCACAGGGATCCGCGCCA	0.592000														19			3		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53613787	53613787	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:53613787G>A	uc004dsp.3	-	37	5099	c.4697C>T	c.(4696-4698)cCc>cTc	p.P1566L	HUWE1_uc004dsn.3_Missense_Mutation_p.P391L	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1566					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGGAGGCAGGGCTGAACCAC	0.488000														22			12		0	0	1	0	0
LHX5	64211	broad.mit.edu	37	12	113907014	113907014	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113907014C>T	uc001tvj.1	-	1	884	c.310G>A	c.(310-312)Gag>Aag	p.E104K		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	Homo sapiens LIM homeobox 5 (LHX5), mRNA.	104	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						ACGTAGAGCTCCTCGCCGGTG	0.572000														48			21		0	0	1	0	0
C16orf54	283897	broad.mit.edu	37	16	29755651	29755651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:29755651C>T	uc002dtp.2	-	1	731	c.622G>A	c.(622-624)Gag>Aag	p.E208K	BOLA2_uc010bzb.1_Intron|BC041466_uc002dtq.1_5'Flank	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN	Homo sapiens chromosome 16 open reading frame 54 (C16orf54), mRNA.	208						integral to membrane				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						GAGATCTGCTCCAAGGTGACC	0.667000														22			5		0	0	1	0	0
ICAM2	3384	broad.mit.edu	37	17	62082713	62082713	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62082713C>T	uc002jdu.4	-	1	314	c.82G>A	c.(82-84)Gag>Aag	p.E28K	ICAM2_uc002jdw.4_Missense_Mutation_p.E28K|ICAM2_uc010ded.3_Missense_Mutation_p.E28K|ICAM2_uc002jdx.4_Missense_Mutation_p.E28K|ICAM2_uc002jdv.4_Missense_Mutation_p.E28K|ICAM2_uc010wpx.1_Missense_Mutation_p.E28K	NM_000873	NP_001093259	P13598	ICAM2_HUMAN	Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA.	28					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						ACGTGTACCTCGAATACCTTC	0.582000														47			6		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42529856	42529856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:42529856G>A	uc010dni.3	+	3	847	c.551G>A	c.(550-552)aGg>aAg	p.R184K		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	184						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCTTACGAGAGGCCCCAGAAA	0.483000									Schinzel-Giedion syndrome					38			16		0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56768600	56768600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:56768600C>T	uc003hbe.1	+	17	2586	c.2428C>T	c.(2428-2430)Cgt>Tgt	p.R810C	EXOC1_uc003hbf.1_Missense_Mutation_p.R810C|EXOC1_uc003hbg.1_Missense_Mutation_p.R795C	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	810					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					ACAAGAACTTCGTAAAGTCAT	0.383000														59			29		0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20135715	20135715	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:20135715C>T	uc002gwq.3	+	6	2458	c.2348C>T	c.(2347-2349)cCt>cTt	p.P783L	SPECC1_uc010cqx.3_Missense_Mutation_p.P783L|SPECC1_uc002gwr.3_Missense_Mutation_p.P783L|SPECC1_uc002gws.3_Missense_Mutation_p.P783L|SPECC1_uc002gwv.3_Missense_Mutation_p.P702L|SPECC1_uc010vzf.2_Missense_Mutation_p.P123L|SPECC1_uc002gwu.3_Missense_Mutation_p.P702L|SPECC1_uc002gwt.3_Missense_Mutation_p.P702L	NM_001243439	NP_001230368	Q5M775	CYTSB_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA.	783						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGAGCCGCCCCTCCGTGAGTC	0.612000														7			5		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759414	121759414	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:121759414G>A	uc003ksw.1	+	3	1188	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.E328K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.E375K|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.E328K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	328					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CATTGTTAAAGAAGGACAGAT	0.408000														71			20		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37670762	37670762	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:37670762G>A	uc003chd.3	+	15	1827	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K	ITGA9_uc003chc.3_Missense_Mutation_p.E592K	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	592					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GGAGGAGAGGGAACTGCCGCC	0.517000														31			11		0	0	1	0	0
GSR	2936	broad.mit.edu	37	8	30560722	30560722	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:30560722G>A	uc003xih.2	-	4	662	c.528C>T	c.(526-528)ttC>ttT	p.F176F	GSR_uc022ato.1_Silent_p.F176F|GSR_uc022atp.1_Silent_p.F176F|GSR_uc022atq.1_Silent_p.F176F	NM_000637	NP_000628	P00390	GSHR_HUMAN	Homo sapiens glutathione reductase (GSR), transcript variant 1, mRNA.	176					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	GATCACTCGTGAAGGCTGCAT	0.483000														88			38		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29498068	29498068	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29498068C>T	uc002rmy.3	-	10	2890	c.1938G>A	c.(1936-1938)caG>caA	p.Q646Q		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	646					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTGCTGTATTCTGCAGGATCT	0.488000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					64			20		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103400011	103400012	+	Missense_Mutation	DNP	AC	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:103400011_103400012AC>TA	uc001dum.3	-	45	3947_3948	c.3629_3630GT>TA	c.(3628-3630)ggt>gTA	p.G1210V	COL11A1_uc001duk.3_Missense_Mutation_p.G394V|COL11A1_uc001dul.3_Missense_Mutation_p.G1198V|COL11A1_uc001dun.3_Missense_Mutation_p.G1159V|COL11A1_uc009weh.3_Missense_Mutation_p.G1082V	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1198	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)		TTACCTGAAGACCTATTGGACC	0.455000														66			15		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86124923	86124923	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:86124923C>T	uc002blv.1	+	6	3794	c.3624C>T	c.(3622-3624)gcC>gcT	p.A1208A	AKAP13_uc002blt.1_Silent_p.A1208A|AKAP13_uc002blu.1_Silent_p.A1208A|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1208					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATGATGGGGCCCCAGCTGGTG	0.597000														63			15		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699167	49699167	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49699167G>A	uc003cxe.4	+	5	10003	c.9889G>A	c.(9889-9891)Gat>Aat	p.D3297N		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3297					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGACTCATACGATCCCCGCGG	0.612000														58			23		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40074023	40074023	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:40074023G>A	uc003ayc.3	+	30	4965	c.4965G>A	c.(4963-4965)atG>atA	p.M1655I	CACNA1I_uc003ayd.3_Missense_Mutation_p.M1620I|CACNA1I_uc003aye.3_Missense_Mutation_p.M1570I|CACNA1I_uc003ayf.3_Missense_Mutation_p.M1535I	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1655					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCGAGGGCATGAGCCGGCATG	0.637000														8			3		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113496530	113496530	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113496530G>A	uc022blv.1	+	6	763	c.629_splice	c.e6-1	p.V210_splice	MUSK_uc022blt.1_Splice_Site_p.V210_splice|MUSK_uc004bez.2_Splice_Site_p.V220_splice|MUSK_uc022blu.1_Splice_Site_p.V210_splice	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	210					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CTTCCTAACAGTTTTTGCCAG	0.507000														17			5		0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24989170	24989170	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24989170C>T	uc001bjm.3	+	11	1727	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S	SRRM1_uc010oel.2_Silent_p.S499S|SRRM1_uc009vrh.1_Silent_p.S460S|SRRM1_uc009vri.1_Silent_p.S416S|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	501	Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCCTCCTCCTCAGAAGATG	0.453000														104			14		0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155567726	155567726	+	Silent	SNP	C	T	T	rs139259621		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:155567726C>T	uc010lqk.1	+	17	3872	c.3504C>T	c.(3502-3504)atC>atT	p.I1168I	RBM33_uc003wmg.2_Silent_p.I104I	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	1168	RRM.						RNA binding|nucleotide binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TGGCCCTGATCGTGGAGTGAG	0.502000														42			14		0	0	1	0	0
HTATIP2	10553	broad.mit.edu	37	11	20403763	20403763	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:20403763C>T	uc009yia.1	+	4	547	c.481C>T	c.(481-483)Cgt>Tgt	p.R161C	HTATIP2_uc009yib.1_Missense_Mutation_p.R161C|HTATIP2_uc001mpx.2_Missense_Mutation_p.R195C|HTATIP2_uc001mpz.2_Missense_Mutation_p.R161C	NM_006410	NP_006401	Q9BUP3	HTAI2_HUMAN	Homo sapiens HIV-1 Tat interactive protein 2, 30kDa (HTATIP2), transcript variant 2, mRNA.	161					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity			large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AAAATTTGATCGTTACTCTGT	0.343000														53			25		0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93408217	93408217	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:93408217G>A	uc001ybg.3	-	10	1223	c.934C>T	c.(934-936)Ctc>Ttc	p.L312F	ITPK1_uc001ybe.2_Intron|ITPK1_uc001ybf.3_Missense_Mutation_p.L193F|ITPK1_uc001ybh.3_Missense_Mutation_p.L312F	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	Homo sapiens inositol-tetrakisphosphate 1-kinase (ITPK1), transcript variant 1, mRNA.	312	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TGGTTCAGGAGGTCTGTGAAG	0.657000														25			6		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141059121	141059121	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:141059121G>A	uc003llm.3	-	3	767	c.689C>T	c.(688-690)gCt>gTt	p.A230V	ARAP3_uc003lln.3_Missense_Mutation_p.A152V|ARAP3_uc003llo.1_Missense_Mutation_p.A230V	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	230					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCTGTGTTCAGCCCTGCCCTG	0.537000														67			21		0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24776027	24776027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24776027G>A	uc003xed.4	+	2	2692	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K	NEFM_uc011lac.1_Missense_Mutation_p.E669K|NEFM_uc010lue.3_Missense_Mutation_p.E511K	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	887	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGAAGAGCATGAAGAGACCTT	0.423000														105			48		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10357094	10357094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10357094C>T	uc002gmn.3	-	22	2911	c.2800G>A	c.(2800-2802)Gaa>Aaa	p.E934K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	934					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						TTGATCTCTTCCTCATCCTCA	0.443000														247			110		0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110466714	110466714	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110466714C>T	uc001dyu.2	+	5	1884	c.1471C>T	c.(1471-1473)Ccg>Tcg	p.P491S	CSF1_uc001dyt.2_Missense_Mutation_p.P375S|CSF1_uc021ori.1_Missense_Mutation_p.P193S|CSF1_uc001dyw.4_Missense_Mutation_p.P491S|CSF1_uc021orj.1_Missense_Mutation_p.P152S	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	491					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		ATCCTTCAGCCCGCAGCTCCA	0.622000														66			36		0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85992412	85992412	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:85992412C>T	uc001kcz.1	-	3	1165	c.1143G>A	c.(1141-1143)agG>agA	p.R381R		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	381						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GGGGGACATGCCTGGCCACCA	0.607000														25			8		0	0	1	0	0
CRTAM	56253	broad.mit.edu	37	11	122738187	122738187	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:122738187C>T	uc001pyj.3	+	7	888	c.888C>T	c.(886-888)ttC>ttT	p.F296F	CRTAM_uc001pyk.3_Silent_p.F97F	NM_019604	NP_062550	O95727	CRTAM_HUMAN	Homo sapiens cytotoxic and regulatory T cell molecule (CRTAM), mRNA.	296					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TGGTGTCCTTCCTCATTTTCA	0.438000														43			12		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171247961	171247961	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171247961G>A	uc009wvz.3	+	4	714	c.578G>A	c.(577-579)gGa>gAa	p.G193E	FMO1_uc010pme.2_Missense_Mutation_p.G130E|FMO1_uc001ghl.3_Missense_Mutation_p.G193E|FMO1_uc001ghm.3_Missense_Mutation_p.G193E	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	193					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTGGAATGGGAAATTCTGGC	0.433000														54			12		0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101592853	101592853	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:101592853C>T	uc003knm.3	-	7	1722	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	479					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.E479E(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCAAATGGCTCATTTTCACAT	0.328000														56			23		0	0	1	0	0
CD40LG	959	broad.mit.edu	37	X	135732492	135732492	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:135732492G>A	uc004faa.3	+	1	296	c.224G>A	c.(223-225)gGa>gAa	p.G75E	CD40LG_uc010nsd.3_Missense_Mutation_p.G75E|CD40LG_uc010nse.1_Non-coding_Transcript	NM_000074	NP_000065	P29965	CD40L_HUMAN	Homo sapiens CD40 ligand (CD40LG), mRNA.	75					B cell proliferation|anti-apoptosis|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	TGCAACACAGGAGAAAGATCC	0.343000									Immune Deficiency with Hyper-IgM					27			55		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150844496	150844496	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:150844496G>A	uc004fev.4	+	15	2535	c.2203G>A	c.(2203-2205)Gga>Aga	p.G735R		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	735						nucleus	signal transducer activity	p.E734*(1)		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)					AGGAGTCGAGGGACCTCCTGA	0.527000														57			80		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97137245	97137245	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:97137245G>A	uc021rcc.1	+	19	2638	c.2560G>A	c.(2560-2562)Gac>Aac	p.D854N				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	854										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AAGCGCAGGGGACACGGAACT	0.413000														76			34		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467511	74467511	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74467511C>T	uc002axg.1	+	1	594	c.312C>T	c.(310-312)gaC>gaT	p.D104D	ISLR_uc002axh.1_Silent_p.D104D|ISLR_uc021sqf.1_Silent_p.D104D	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	104					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						AGAGCCTGGACCTCAGCCACA	0.607000														64			21		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160862250	160862250	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:160862250G>A	uc002ube.2	-	10	1959	c.1747C>T	c.(1747-1749)Caa>Taa	p.Q583*	PLA2R1_uc010zcp.2_Nonsense_Mutation_p.Q583*|PLA2R1_uc002ubf.3_Nonsense_Mutation_p.Q583*	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	583	C-type lectin 3.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTATCATTTTGGTCCTGAAGA	0.448000														130			9		0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754223	167754223	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:167754223C>T	uc003qvs.1	+	2	923	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	279	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGGGTTGGTTCGGTTTGCCAC	0.398000														119			78		0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92988086	92988086	+	Missense_Mutation	SNP	G	A	A	rs147607028	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:92988086G>A	uc002bra.3	+	4	924	c.769G>A	c.(769-771)Gag>Aag	p.E257K	ST8SIA2_uc002brb.3_Missense_Mutation_p.E236K	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	257					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GTGGGTCAACGAGCTTATCCT	0.642000														75			38		0	0	1	0	0
WDR5	11091	broad.mit.edu	37	9	137007496	137007496	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:137007496C>T	uc004cey.3	+	5	567	c.396C>T	c.(394-396)gtC>gtT	p.V132V	WDR5_uc004cez.3_Silent_p.V132V	NM_017588	NP_438172	P61964	WDR5_HUMAN	Homo sapiens WD repeat domain 5 (WDR5), transcript variant 1, mRNA.	132					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		GTAATTATGTCTTTTGCTGCA	0.468000														74			30		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71148051	71148051	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:71148051C>T	uc001swi.2	-	4	1072	c.658G>A	c.(658-660)Gac>Aac	p.D220N	PTPRR_uc001swh.2_5'UTR|PTPRR_uc009zrs.3_Missense_Mutation_p.D14N|PTPRR_uc010stq.2_Missense_Mutation_p.D108N|PTPRR_uc010str.1_Missense_Mutation_p.D69N	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	220					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CAGATTTTGTCCGCTTCATGC	0.358000														39			19		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2808778	2808778	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2808778G>A	uc022aqr.1	-	65	10449	c.10059C>T	c.(10057-10059)ttC>ttT	p.F3353F	CSMD1_uc011kwj.2_Silent_p.F2668F|CSMD1_uc010lrg.3_Silent_p.F1245F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3354						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGAATTGACGAAAAAGACAT	0.413000														17			6		0	0	1	0	0
TP53TG5	27296	broad.mit.edu	37	20	44004191	44004191	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44004191C>T	uc002xny.3	-	4	336	c.255_splice	c.e4-1	p.G85_splice	SYS1_uc002xnw.2_3'UTR|DBNDD2_uc002xnx.3_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	Homo sapiens TP53 target 5 (TP53TG5), mRNA.	85					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						GCACTGTTTTCCCTGGCAGGG	0.512000														144			52		0	0	1	0	0
RPL4	6124	broad.mit.edu	37	15	66795835	66795836	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:66795835_66795836GG>AA	uc002apv.3	-	1	100_101	c.35_36CC>TT	c.(34-36)tcc>tTT	p.S12F	RPL4_uc002apx.3_5'UTR|RPL4_uc010ujq.2_Missense_Mutation_p.S12F|RPL4_uc010bhs.1_5'Flank|SNORD18B_uc002apy.1_5'Flank|SNORD16_uc010bht.3_5'Flank|SNORD18A_uc002apz.1_5'Flank|ZWILCH_uc010bhu.1_5'Flank|ZWILCH_uc002aqb.3_5'Flank|ZWILCH_uc002aqa.3_5'Flank|ZWILCH_uc010bhv.3_5'Flank	NM_000968	NP_000959	P36578	RL4_HUMAN	Homo sapiens ribosomal protein L4 (RPL4), mRNA.	12					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						CCCCCTTTTCGGAGTACACCGA	0.426000														57			14		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106349677	106349677	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106349677G>A	uc021ser.1	-	3936		c.58751_splice	c.e3936-1							Parts of antibodies, mostly variable regions.																		AGCCCCAGGAGAAGCAGGTGA	0.622000														14			5		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62599145	62599145	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:62599145C>T	uc010ihh.3	+	4	1241	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P	LPHN3_uc003hcq.4_Silent_p.P356P|LPHN3_uc010ihg.1_Silent_p.P424P|LPHN3_uc003hcs.1_Silent_p.P185P	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	356	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGGATGTACCCTTTCCTAATT	0.388000														36			7		0	0	1	0	0
RD3	343035	broad.mit.edu	37	1	211654713	211654713	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:211654713C>T	uc001him.2	-	1	1209	c.45G>A	c.(43-45)cgG>cgA	p.R15R	RD3_uc001hin.2_Silent_p.R15R|RD3_uc009xda.2_Intron	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN	Homo sapiens retinal degeneration 3 (RD3), transcript variant 1, mRNA.	15					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		TGGTGGACAGCCGGGATGGGG	0.622000														72			8		0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7950045	7950045	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7950045G>A	uc010rbh.2	-	0	165	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGGGAACGTGGAGGCTCTGGT	0.473000														117			40		0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44433089	44433089	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44433089G>A	uc001ckx.3	+	18	3511	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K	IPO13_uc001cky.3_Missense_Mutation_p.E124K	NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	906					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GTGGATCAAGGAGGCCCTGCA	0.617000														70			36		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6064099	6064099	+	Silent	SNP	G	A	A	rs149678000	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:6064099G>A	uc010idb.1	-	9	1986	c.1500C>T	c.(1498-1500)cgC>cgT	p.R500R	JAKMIP1_uc010idc.1_Silent_p.R315R|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Silent_p.R500R|JAKMIP1_uc011bwc.2_Silent_p.R335R|JAKMIP1_uc003giv.4_Silent_p.R500R|JAKMIP1_uc010ide.3_Silent_p.R500R	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	500	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGCGTAGGCGCGTTGCAGGG	0.642000														72			26		0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354341	45354341	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:45354341C>T	uc002xsl.3	+	1	763	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	222						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TGGACCTCTTCAGGGCACGCG	0.627000														86			31		0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98351054	98351054	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:98351054G>A	uc002syd.1	+	8	1168	c.961G>A	c.(961-963)Gac>Aac	p.D321N	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.D211N|ZAP70_uc002syf.1_Missense_Mutation_p.D14N	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	321	Interdomain B.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCCCTACAGCGACCCAGAGGA	0.587000														76			26		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505221	37505221	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:37505221G>A	uc021ppc.1	+	31	2913	c.2814G>A	c.(2812-2814)aaG>aaA	p.K938K	ANKRD30A_uc001iza.1_Silent_p.K938K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	994						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATGAAAAAGAAGTTTTGTG	0.338000														75			13		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179720250	179720250	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179720250C>T	uc002une.2	-	18	3002	c.2884G>A	c.(2884-2886)Gaa>Aaa	p.E962K	CCDC141_uc002unf.1_Missense_Mutation_p.E441K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	387							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTAACTTTTTCCATTTTCCTT	0.284000														33			10		0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28788251	28788251	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:28788251C>T	uc002hfb.2	+	17	3609	c.3552C>T	c.(3550-3552)tgC>tgT	p.C1184C	CPD_uc010wbo.2_Silent_p.C937C|CPD_uc010wbp.2_Intron	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	1184	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						ACACAAGCTGCTGTTACTTTC	0.378000														48			34		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111164364	111164364	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:111164364C>T	uc001vqx.3	+	47	5254	c.4965C>T	c.(4963-4965)ttC>ttT	p.F1655F		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1655	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCACACCATTCATCGAATGCA	0.632000														85			29		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38862636	38862636	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38862636G>A	uc021yzh.1	+	58	8852	c.8743G>A	c.(8743-8745)Gac>Aac	p.D2915N	DNAH8_uc003ooe.2_Missense_Mutation_p.D2698N	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGTAATTGCAGACAGGTGCGT	0.398000														16			11		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144869848	144869848	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:144869848C>T	uc003qkt.3	+	45	6760	c.6668C>T	c.(6667-6669)tCg>tTg	p.S2223L		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	2223					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CATCGTACTTCGGAAATTTCA	0.398000														31			21		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	73890	73890	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000209.1:73890C>T	uc002qui.2	+	3	563	c.552C>T	c.(550-552)tcC>tcT	p.S184S	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Silent_p.S181S|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Silent_p.S89S|KIR2DL2_uc010evh.1_Silent_p.S77S|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	89	Ig-like C2-type 2.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										CCATCGGTTCCATGATGCGTG	0.537000														119			75		0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21306909	21306910	+	Missense_Mutation	DNP	GG	AA	AA	rs147841357	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:21306909_21306910GG>AA	uc001bec.3	-	4	498_499	c.242_243CC>TT	c.(241-243)ccc>cTT	p.P81L	EIF4G3_uc010odj.2_Missense_Mutation_p.P81L|EIF4G3_uc009vpz.3_Missense_Mutation_p.P81L|EIF4G3_uc001bef.3_Missense_Mutation_p.P81L|EIF4G3_uc001bee.3_Missense_Mutation_p.P88L|EIF4G3_uc001beg.3_Missense_Mutation_p.P81L|EIF4G3_uc010odk.2_Missense_Mutation_p.P81L|EIF4G3_uc001beh.3_Missense_Mutation_p.P92L	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	81					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ATTGTTGGGGGGGCCCAACATA	0.431000														29			9		0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78445594	78445594	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:78445594C>T	uc002jyp.1	-	3	1173	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	339	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GCCAAGTTCTCGCCACTGCCA	0.632000														49			23		0	0	1	0	0
EFNB1	1947	broad.mit.edu	37	X	68060237	68060237	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:68060237C>T	uc004dxe.2	+	4	1561	c.781C>T	c.(781-783)Cta>Tta	p.L261L	EFNB1_uc004dxd.4_Silent_p.L261L	NM_004429	NP_004420	P98172	EFNB1_HUMAN	Homo sapiens ephrin-B1 (EFNB1), mRNA.	261					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CCTGACGGTCCTACTACTGAA	0.622000														11			12		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130222677	130222677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:130222677C>T	uc004evz.3	+	11	1907	c.1562C>T	c.(1561-1563)cCc>cTc	p.P521L	ARHGAP36_uc004ewa.3_Missense_Mutation_p.P509L|ARHGAP36_uc004ewb.3_Missense_Mutation_p.P490L|ARHGAP36_uc004ewc.3_Missense_Mutation_p.P385L	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	521					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.P520H(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGTAACCCTCCCATTCCGGAG	0.527000														12			20		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15806999	15806999	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15806999G>A	uc002nbl.3	+	10	1397	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ATATTATAGGGGTCCATCACA	0.552000														106			40		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283541	159283541	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159283541C>T	uc010piu.2	-	0	909	c.909G>A	c.(907-909)caG>caA	p.Q303Q		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CCCCACGGCTCTGTGCAGAGC	0.433000														82			39		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6520098	6520098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6520098G>A	uc001amy.3	+	12	2625	c.2457G>A	c.(2455-2457)cgG>cgA	p.R819R	ESPN_uc001amz.3_Silent_p.R253R	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	819	Glu-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTGCGGCGGGAGAAGGAAC	0.637000														29			14		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282624	152282624	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152282624C>T	uc001ezu.1	-	2	4774	c.4738G>A	c.(4738-4740)Gaa>Aaa	p.E1580K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1580	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1579fs*16(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGCTGATTCTCCCTGGCCC	0.597000									Ichthyosis					261			127		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247607363	247607363	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247607363G>A	uc001icr.3	+	8	2897	c.2759G>A	c.(2758-2760)cGa>cAa	p.R920Q	NLRP3_uc001ics.3_Missense_Mutation_p.R863Q|NLRP3_uc001icu.3_Missense_Mutation_p.R920Q|NLRP3_uc001icw.3_Missense_Mutation_p.R863Q|NLRP3_uc001icv.3_Missense_Mutation_p.R806Q|NLRP3_uc010pyw.2_Missense_Mutation_p.R898Q	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	920					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L919V(1)|p.R920*(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTTTACCTGCGAGGCAACACT	0.493000														62			22		0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642706	1642706	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1642706G>A	uc009ycy.1	-	2	600	c.513C>T	c.(511-513)tcC>tcT	p.S171S	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	266	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCAGCAACTGGACTGGCAGC	0.597000														144			74		0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29837927	29837927	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:29837927C>T	uc003afn.3	+	1	979	c.770C>T	c.(769-771)tCc>tTc	p.S257F	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	257	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CAGAACGTTTCCTTTTTTGAT	0.507000														97			35		0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94341758	94341758	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:94341758C>T	uc001pfa.3	+	14	2060	c.1849C>T	c.(1849-1851)Ctg>Ttg	p.L617L	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	617	Piwi.				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)				GTTAAAGTCCCTGATGGTGGT	0.403000														183			18		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41725620	41725620	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41725620C>T	uc002yyq.1	-	4	1158	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	236	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCAGCCATGGCTTTGCGATGG	0.547000														22			14		0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159921563	159921563	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159921563C>T	uc001fus.3	-	3	875	c.758G>A	c.(757-759)gGa>gAa	p.G253E	SLAMF9_uc009wtd.3_Missense_Mutation_p.G162E|SLAMF9_uc001fut.3_3'UTR	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	253						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACCCAGAGTCCCATGGCCAG	0.488000														102			48		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168812899	168812899	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:168812899C>T	uc011bpj.1	-	12	3387	c.2984G>A	c.(2983-2985)aGa>aAa	p.R995K	MECOM_uc010hwk.1_Missense_Mutation_p.R821K|MECOM_uc003ffj.3_Missense_Mutation_p.R872K|MECOM_uc003ffi.3_Missense_Mutation_p.R807K|MECOM_uc011bpi.1_Missense_Mutation_p.R799K|MECOM_uc003ffn.3_Missense_Mutation_p.R807K|MECOM_uc003ffk.2_Missense_Mutation_p.R798K|MECOM_uc003ffl.2_Missense_Mutation_p.R958K|MECOM_uc011bpk.1_Missense_Mutation_p.R807K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTTTAGGTGTCTGTCTAAATT	0.343000														44			13		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57476429	57476430	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57476429_57476430GG>AA	uc009vzx.1	-	13	1926_1927	c.1606_1607CC>TT	c.(1606-1608)cca>TTa	p.P536L	DAB1_uc001cyt.1_Missense_Mutation_p.P534L|DAB1_uc001cyq.1_Missense_Mutation_p.P534L|DAB1_uc001cyr.1_Missense_Mutation_p.P450L|DAB1_uc009vzw.1_Missense_Mutation_p.P518L|DAB1_uc001cys.1_Missense_Mutation_p.P536L	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	569					cell differentiation|nervous system development			p.D535N(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTCACCAAATGGATCACTGTTG	0.441000														84			32		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124359953	124359953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124359953C>T	uc001uft.4	+	45	7785	c.7760C>T	c.(7759-7761)tCg>tTg	p.S2587L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2587	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1179L(1)|p.S2587L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGATTTATTTCGCTATTCAGT	0.443000														50			14		0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105842748	105842748	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:105842748G>A	uc001pix.2	+	14	2848	c.2402G>A	c.(2401-2403)gGa>gAa	p.G801E	GRIA4_uc001piw.2_Intron|GRIA4_uc010rvm.1_Non-coding_Transcript|GRIA4_uc009yxl.1_Intron	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	801					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AAGGACTCTGGAAGCAAGGTC	0.458000														57			20		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38884057	38884057	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38884057G>A	uc003jln.2	+	4	949	c.547G>A	c.(547-549)Ggg>Agg	p.G183R	OSMR_uc003jlm.2_Missense_Mutation_p.G183R	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	183					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTATTTGGAAGGGAAACAGAT	0.363000														106			28		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189869062	189869062	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189869062G>A	uc002uqj.1	+	39	3020	c.2903G>A	c.(2902-2904)aGg>aAg	p.R968K		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	968	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCAGGTCCTAGGGGAAGCCCT	0.522000														7			3		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47786986	47786986	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:47786986C>T	uc002zji.4	+	14	3204	c.3097C>T	c.(3097-3099)Cac>Tac	p.H1033Y	PCNT_uc002zjj.3_Missense_Mutation_p.H915Y	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1033					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGTGCGGGACCACCTGCGAAC	0.587000														81			28		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634267	70634267	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70634267C>T	uc001xly.3	-	1	1627	c.873G>A	c.(871-873)atG>atA	p.M291I	SLC8A3_uc001xlw.3_Missense_Mutation_p.M291I|SLC8A3_uc001xlx.3_Missense_Mutation_p.M291I|SLC8A3_uc001xlz.3_Missense_Mutation_p.M291I|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	291					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGGAATTCATCATTTTCCCAT	0.478000														45			28		0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191051	6191051	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6191051G>A	uc010qzy.2	-	0	506	c.506C>T	c.(505-507)cCc>cTc	p.P169L		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGGCAGAAGGGCAGCCGCTT	0.502000														36			4		0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147131157	147131157	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:147131157C>T	uc003ewe.3	+	2	1882	c.1163C>T	c.(1162-1164)tCg>tTg	p.S388L		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	388	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GAATCCTCCTCGCAGGGCTCG	0.627000														88			29		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196774900	196774900	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196774900G>A	uc002utj.4	-	24	4056	c.3955C>T	c.(3955-3957)Cat>Tat	p.H1319Y		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1319	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGTGCAAATGAAGGGCTCCA	0.398000														25			9		0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111154921	111154921	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:111154921C>T	uc001plc.3	+	2	275	c.128C>T	c.(127-129)cCc>cTc	p.P43L		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	43										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		AAGCCGTTTCCCTGTGAGTCC	0.572000														175			62		0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160969689	160969689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160969689G>A	uc009wtt.3	-	5	941	c.671C>T	c.(670-672)tCa>tTa	p.S224L	F11R_uc010pjv.2_Missense_Mutation_p.S175L|F11R_uc010pjw.2_Missense_Mutation_p.S228L|F11R_uc001fxf.4_Missense_Mutation_p.S224L	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	Homo sapiens F11 receptor (F11R), mRNA.	224	Ig-like V-type 2.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CACAGCATTTGAAGTCATGGG	0.517000														73			21		0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7022292	7022292	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7022292C>T	uc009yfh.1	-	2	921	c.622G>A	c.(622-624)Gac>Aac	p.D208N	ZNF214_uc001mfa.2_Missense_Mutation_p.D208N|ZNF214_uc010ray.1_Missense_Mutation_p.D208N	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CTCAGTAGGTCTTCTTGACAT	0.388000														85			19		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155198856	155198856	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:155198856G>A	uc021xge.1	-	22	5260	c.4983C>T	c.(4981-4983)caC>caT	p.H1661H	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.H1623H	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1661					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CGTGGCCATAGTGAAGAGCCG	0.507000														28			24		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87025895	87025895	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:87025895C>T	uc009wcs.3	+	3	345	c.301_splice	c.e3-1	p.A101_splice	CLCA4_uc009wct.3_Splice_Site|CLCA4_uc009wcu.3_Intron	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	101						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			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)		CATTCTCAGGCTGATGTTATA	0.353000														81			31		0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205554035	205554035	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205554035G>A	uc001hcv.4	+	4	977	c.891G>A	c.(889-891)agG>agA	p.R297R	MFSD4_uc010prk.2_Silent_p.R210R|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.R242R	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	297					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCTGCCAAAGGAAGAACCTCA	0.587000											OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		138			50		0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147929808	147929808	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:147929808C>T	uc021yfj.1	-	1	91	c.44G>A	c.(43-45)gGg>gAg	p.G15E	HTR4_uc021yfg.1_Missense_Mutation_p.G15E|HTR4_uc021yfh.1_Missense_Mutation_p.G15E|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Missense_Mutation_p.G15E|HTR4_uc011dby.1_Missense_Mutation_p.G15E|HTR4_uc003lpn.3_Missense_Mutation_p.G15E|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Missense_Mutation_p.G15E|SH3TC2_uc003lpp.1_Non-coding_Transcript	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	15					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CTCCACTGACCCGAAACCCTC	0.498000														59			19		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35792664	35792664	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35792664C>T	uc003zyd.3	+	0	259	c.259C>T	c.(259-261)Ctc>Ttc	p.L87F	NPR2_uc010mlb.3_Missense_Mutation_p.L87F	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	87					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CGCTGTGGACCTCAAGCTGTA	0.662000														101			34		0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25284783	25284783	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:25284783C>T	uc001isg.1	-	2	404	c.239G>A	c.(238-240)cGg>cAg	p.R80Q	ENKUR_uc001ish.1_Missense_Mutation_p.R18Q	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	Homo sapiens enkurin, TRPC channel interacting protein (ENKUR), mRNA.	80						cilium|flagellum	SH3 domain binding|calmodulin binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						GGGCACGTTCCGATCAAAGTT	0.333000														133			13		0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55266666	55266666	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55266666G>A	uc009vzt.1	-	0	276	c.171C>T	c.(169-171)ctC>ctT	p.L57L	TTC22_uc001cxz.4_Silent_p.L57L	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	Homo sapiens tetratricopeptide repeat domain 22 (TTC22), transcript variant 1, mRNA.	57							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						CCGCCAGCTGGAGCTCCTGCC	0.701000														17			11		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17375071	17375071	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17375071C>T	uc002nfs.1	-	1	151	c.38G>A	c.(37-39)gGg>gAg	p.G13E	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_5'UTR|USHBP1_uc010eam.1_5'UTR	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	13							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						AGCATGCCTCCCTCGCCGGCT	0.657000														23			11		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56088753	56088753	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56088753C>T	uc001shh.3	-	15	2236	c.2016_splice	c.e15-1	p.M672_splice	ITGA7_uc001shg.3_Splice_Site_p.M668_splice|ITGA7_uc010sps.2_Splice_Site_p.M575_splice|ITGA7_uc009znw.3_Intron|ITGA7_uc009znx.3_Splice_Site_p.M549_splice	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	712					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCATCCACATCCCTGGAGAGT	0.612000														29			14		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130507048	130507048	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130507048C>T	uc004bsc.3	-	6	1737	c.1595G>A	c.(1594-1596)gGg>gAg	p.G532E	SH2D3C_uc010mxo.3_Missense_Mutation_p.G372E|SH2D3C_uc004bry.3_Missense_Mutation_p.G374E|SH2D3C_uc004brz.4_Missense_Mutation_p.G178E|SH2D3C_uc011mak.2_Missense_Mutation_p.G178E|SH2D3C_uc004bsb.3_Missense_Mutation_p.G464E|SH2D3C_uc004bsa.3_Missense_Mutation_p.G375E	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	532					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCAGGGGCCCCATTTTCTGA	0.612000														255			34		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155254414	155254414	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155254414G>A	uc003inw.2	-	8	1449	c.1449C>T	c.(1447-1449)acC>acT	p.T483T	DCHS2_uc003inx.2_Silent_p.T982T	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	483	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCTCATCCGAGGTCCTGAGGA	0.607000														64			29		0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58342389	58342389	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:58342389C>T	uc002yau.3	+	4	1157	c.690C>T	c.(688-690)agC>agT	p.S230S	PHACTR3_uc002yat.3_Silent_p.S227S|PHACTR3_uc010zzw.2_Silent_p.S189S|PHACTR3_uc002yav.3_Silent_p.S189S|PHACTR3_uc002yaw.3_Silent_p.S189S|PHACTR3_uc002yax.3_Intron	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	230	Pro-rich.					nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.P229T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AGCTCCCCAGCCCCCCACTGC	0.592000														38			19		0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714447	65714447	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65714447G>A	uc001ogk.1	+	2	273	c.241G>A	c.(241-243)Ggc>Agc	p.G81S	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	82										endometrium(2)|kidney(3)|lung(9)	14						CAAGCCCAGGGGCCAGAGCAA	0.612000														71			29		0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58342391	58342391	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:58342391C>T	uc002yau.3	+	4	1159	c.692C>T	c.(691-693)cCc>cTc	p.P231L	PHACTR3_uc002yat.3_Missense_Mutation_p.P228L|PHACTR3_uc010zzw.2_Missense_Mutation_p.P190L|PHACTR3_uc002yav.3_Missense_Mutation_p.P190L|PHACTR3_uc002yaw.3_Missense_Mutation_p.P190L|PHACTR3_uc002yax.3_Intron	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	231	Pro-rich.					nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTCCCCAGCCCCCCACTGCTG	0.592000														38			18		0	0	1	0	0
HIPK3	10114	broad.mit.edu	37	11	33374802	33374802	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:33374802C>T	uc001mul.1	+	16	3606	c.3336C>T	c.(3334-3336)ctC>ctT	p.L1112L	HIPK3_uc001mum.1_Silent_p.L1091L|HIPK3_uc009yjv.1_Silent_p.L1091L	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	1112					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						ATACACACCTCGGAGGACAGC	0.507000														87			16		0	0	1	0	0
WNT6	7475	broad.mit.edu	37	2	219738374	219738374	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219738374C>T	uc002vjc.1	+	3	1120	c.905C>T	c.(904-906)tCc>tTc	p.S302F		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 6 (WNT6), mRNA.	302					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCACCGGCTCCCCCGGCACG	0.761000														18			9		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23830128	23830128	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:23830128C>T	uc003gqs.3	-	4	772	c.652G>A	c.(652-654)Gat>Aat	p.D218N	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	218					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGAGGGTCATCGTTTGTGGTC	0.468000														170			54		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118469492	118469492	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:118469492C>T	uc010jcl.1	+	11	2054	c.1873C>T	c.(1873-1875)Ctc>Ttc	p.L625F	DMXL1_uc003ksd.2_Missense_Mutation_p.L625F|DMXL1_uc021ycw.1_Missense_Mutation_p.L452F|DMXL1_uc003ksc.1_Missense_Mutation_p.L625F	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	625										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTCTACTGTTCTCAGTATTTC	0.378000														147			25		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144467	55144467	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55144467G>A	uc002qgj.3	+	8	1299	c.959_splice	c.e8-1	p.G320_splice	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Splice_Site_p.G320_splice|LILRB1_uc002qgk.3_Splice_Site_p.G320_splice|LILRB1_uc002qgm.3_Splice_Site_p.G320_splice|LILRB1_uc010erq.3_Splice_Site_p.G320_splice|LILRB1_uc010err.3_Splice_Site	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.	320	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			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)		TTCTCTCCAGGACAGTTCTAT	0.607000										HNSCC(37;0.09)				87			14		0	0	1	0	0
GNG7	2788	broad.mit.edu	37	19	2515055	2515055	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:2515055G>A	uc002lwd.2	-	4	409	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_052847	NP_443079	O60262	GBG7_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 7 (GNG7), mRNA.	58					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			central_nervous_system(2)|large_intestine(1)	3		Hepatocellular(1079;0.137)		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)		TCCTTAAAGGGGTTCTCCGAG	0.493000														96			34		0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27218585	27218585	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:27218585G>A	uc003nja.3	+	5	606	c.591_splice	c.e5+1	p.K197_splice	PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Intron|PRSS16_uc010jqq.1_Splice_Site_p.K87_splice|PRSS16_uc010jqr.1_Splice_Site_p.K87_splice|PRSS16_uc003njd.3_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	197					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCCGGCTGAAGGTCCTGCGAC	0.652000														43			15		0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93179168	93179168	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:93179168G>A	uc001yav.3	-	8	953	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L	LGMN_uc001yat.3_Silent_p.L198L|LGMN_uc001yau.3_Silent_p.L198L|LGMN_uc001yaw.3_Silent_p.L198L	NM_001008530	NP_005597	Q99538	LGMN_HUMAN	Homo sapiens legumain (LGMN), transcript variant 2, mRNA.	198					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TTATCCGGCAGGTGGTTCATC	0.592000														30			6		0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990859	39990859	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:39990859C>T	uc002xjy.1	-	3	1574	c.1350G>A	c.(1348-1350)agG>agA	p.R450R		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	450						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GACAGCATCCCCTTGCTCCAC	0.632000														111			66		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61310809	61310809	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61310809C>T	uc002ljf.3	-	1	89	c.3G>A	c.(1-3)atG>atA	p.M1I	SERPINB3_uc002lje.3_Missense_Mutation_p.M1I|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	1					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGAGTGAATTCATGGTGAACT	0.373000														194			46		0	0	1	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74364582	74364582	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74364582C>T	uc002axa.1	-	13	1611	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	DQ572823_uc010ulg.2_5'Flank|DQ582073_uc021sqc.1_5'Flank	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA.	524										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						CTCTCCAGGTCCTCTGGGATG	0.627000														176			10		0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5331432	5331432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:5331432C>T	uc003sod.3	+	4	685	c.524C>T	c.(523-525)aCc>aTc	p.T175I	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Missense_Mutation_p.T175I|SLC29A4_uc003soe.3_Missense_Mutation_p.P163S	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	175					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCTGTGGGCACCGTGGCCTTC	0.647000														82			11		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013074	99013074	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:99013074C>T	uc010fij.3	+	7	1594	c.1453C>T	c.(1453-1455)Cgc>Tgc	p.R485C	CNGA3_uc002syt.3_Missense_Mutation_p.R481C|CNGA3_uc002syu.3_Missense_Mutation_p.R463C			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	481			D -> V (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GAAGAAGGTTCGCATCTTCCA	0.567000														22			13		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18331249	18331249	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18331249C>T	uc010xqc.2	-	5	1152	c.672G>A	c.(670-672)caG>caA	p.Q224Q	PDE4C_uc002nik.4_Silent_p.Q224Q|PDE4C_uc002nil.4_Silent_p.Q224Q|PDE4C_uc002nig.4_Intron|PDE4C_uc002nih.4_Intron|PDE4C_uc010ebk.3_Silent_p.Q118Q|PDE4C_uc002nii.4_Silent_p.Q192Q|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_Non-coding_Transcript|PDE4C_uc002nim.1_Missense_Mutation_p.D208N	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	224					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	AGTGCCGGGTCTGCAGCGTCT	0.652000														41			16		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766120	77766120	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:77766120C>T	uc003yau.2	+	9	7350	c.6963C>T	c.(6961-6963)ttC>ttT	p.F2321F	ZFHX4_uc003yaw.1_Silent_p.F2276F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2276						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)			ATGTGGTTTTCCCCAGGATCT	0.393000										HNSCC(33;0.089)				41			20		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94946066	94946066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94946066C>T	uc003uns.3	-	2	278	c.181G>A	c.(181-183)Gga>Aga	p.G61R	PON1_uc011kih.2_Missense_Mutation_p.G61R	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	61					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	AAAGCCAGTCCATTAGGCAGT	0.403000														148			35		0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93185157	93185157	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:93185157G>A	uc001yav.3	-	3	532	c.171C>T	c.(169-171)caC>caT	p.H57H	LGMN_uc001yat.3_Silent_p.H57H|LGMN_uc001yau.3_Silent_p.H57H|LGMN_uc001yaw.3_Silent_p.H57H	NM_001008530	NP_005597	Q99538	LGMN_HUMAN	Homo sapiens legumain (LGMN), transcript variant 2, mRNA.	57					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TCCCATTGCGGTGAATGATCT	0.483000														81			27		0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6533066	6533066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6533066C>T	uc001anp.1	-	9	1693	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	PLEKHG5_uc001ann.1_Missense_Mutation_p.E359K|PLEKHG5_uc001ano.1_Missense_Mutation_p.E378K|PLEKHG5_uc001anq.1_Missense_Mutation_p.E399K|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_Missense_Mutation_p.E162K|PLEKHG5_uc010nzr.1_Missense_Mutation_p.E391K|PLEKHG5_uc001ank.1_Missense_Mutation_p.E322K|PLEKHG5_uc009vmb.1_Missense_Mutation_p.E322K|PLEKHG5_uc001anl.1_Missense_Mutation_p.E322K|PLEKHG5_uc001anm.1_Missense_Mutation_p.E322K	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	378	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCAATGAGCTCCCGCCAGCTG	0.627000														48			13		0	0	1	0	0
SFTPA1	653509	broad.mit.edu	37	10	81373758	81373758	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81373758C>T	uc009xry.3	+	5	763	c.681C>T	c.(679-681)taC>taT	p.Y227Y	SFTPA1_uc001kap.3_Silent_p.Y212Y|SFTPA1_uc001kar.3_Silent_p.Y212Y|SFTPA1_uc001kaq.3_Silent_p.Y212Y|SFTPA1_uc001kao.3_Silent_p.Y178Y|SFTPA1_uc021puu.1_Silent_p.Y163Y|SFTPA1_uc010qlt.2_Silent_p.Y153Y|SFTPA1_uc009xrz.3_Silent_p.Y142Y	NM_001093770	NP_005402	Q8IWL2	SFTA1_HUMAN	Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA.	212	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CCAACTGGTACCGAGGGGAGC	0.557000														191			95		0	0	1	0	0
CDCA8	55143	broad.mit.edu	37	1	38173996	38173996	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:38173996C>T	uc001cbr.3	+	10	908	c.801C>T	c.(799-801)aaC>aaT	p.N267N	CDCA8_uc001cbs.3_Silent_p.N267N	NM_018101	NP_060571	Q53HL2	BOREA_HUMAN	Homo sapiens cell division cycle associated 8 (CDCA8), mRNA.	267					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTTTTTAGAACCGTCTCGCCC	0.507000														59			24		0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826110	34826110	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:34826110C>T	uc003oju.4	+	13	2211	c.1977C>T	c.(1975-1977)agC>agT	p.S659S	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	659								p.F658F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GTGGCTTTAGCCTTCTGCACA	0.493000														123			48		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871098	51871098	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:51871098C>T	uc002xwo.3	+	1	1988	c.1101C>T	c.(1099-1101)agC>agT	p.S367S	TSHZ2_uc021wex.1_Silent_p.S364S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	367					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ATGGAGCCAGCTACACCTGGC	0.502000														73			30		0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63538522	63538522	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:63538522G>A	uc011kdm.2	+	3	1274	c.1095G>A	c.(1093-1095)ttG>ttA	p.L365L		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L365F(2)		endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						ATATGGAATTGAGACCTTACA	0.393000														22			12		0	0	1	0	0
CXorf58	254158	broad.mit.edu	37	X	23928430	23928430	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:23928430C>T	uc004daz.1	+	1	355	c.11C>T	c.(10-12)tCc>tTc	p.S4F	APOO_uc004dax.3_5'Flank|APOO_uc004day.4_5'Flank|CXorf58_uc011mju.1_Missense_Mutation_p.S4F	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	Homo sapiens chromosome X open reading frame 58 (CXorf58), transcript variant 1, mRNA.	4										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						ATGAATCGTTCCTCAAATGTA	0.348000														17			6		0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5072529	5072529	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:5072529T>C	uc010mhm.3	+	11	1792	c.1679T>C	c.(1678-1680)tTt>tCt	p.F560S	JAK2_uc003ziw.3_Missense_Mutation_p.F560S	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	560	Protein kinase 1.				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ACAAAGATTTTTAAAGGCGTA	0.373000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial					53			25		0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18276413	18276413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:18276413G>A	uc001ipo.2	+	6	1375	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S	SLC39A12_uc001ipn.2_Missense_Mutation_p.G368S|SLC39A12_uc001ipp.2_Missense_Mutation_p.G368S|SLC39A12_uc010qck.1_Missense_Mutation_p.G234S	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	368					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CTTAGAATACGGCTACAGCAC	0.522000														49			26		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442346	138442346	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:138442346G>A	uc003ihe.4	-	3	3632	c.3245C>T	c.(3244-3246)tCt>tTt	p.S1082F	PCDH18_uc003ihf.4_Missense_Mutation_p.S1074F|PCDH18_uc011cgz.2_Missense_Mutation_p.S293F|PCDH18_uc003ihg.4_Missense_Mutation_p.S861F|PCDH18_uc011cha.2_Missense_Mutation_p.S262F	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	1082	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCATTTTGAAGAAGGCTGCAC	0.512000														32			15		0	0	1	0	0
KLC4	89953	broad.mit.edu	37	6	43039079	43039079	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43039079C>T	uc003otw.1	+	8	1595	c.1276C>T	c.(1276-1278)Cgt>Tgt	p.R426C	KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otv.1_Missense_Mutation_p.R408C|KLC4_uc011dvd.1_Missense_Mutation_p.R331C|KLC4_uc003otx.1_Missense_Mutation_p.R408C|KLC4_uc003oty.1_Missense_Mutation_p.R408C|KLC4_uc003otz.1_Missense_Mutation_p.R408C	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	408						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	p.W425C(1)		endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GATCCTGACCCGTGCCCATGT	0.512000														43			16		0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133502261	133502261	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:133502261C>T	uc003vrk.3	+	10	1733	c.1698C>T	c.(1696-1698)acC>acT	p.T566T	EXOC4_uc011kpo.2_Silent_p.T465T|EXOC4_uc003vrl.3_Silent_p.T176T|EXOC4_uc011kpp.2_Silent_p.T98T	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	566					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ACGCAGACACCATGAAGGTGC	0.413000														45			9		0	0	1	0	0
GLT8D2	83468	broad.mit.edu	37	12	104387281	104387281	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:104387281C>T	uc001tkh.1	-	10	1325	c.768_splice	c.e10-1	p.E256_splice	GLT8D2_uc001tki.1_Splice_Site_p.E256_splice	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	256						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TAGAGGTTTTCCCTAAGAAAT	0.438000														25			9		0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88482261	88482261	+	Silent	SNP	C	T	T	rs148640386		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:88482261C>T	uc002ssy.4	+	4	2537	c.846C>T	c.(844-846)gtC>gtT	p.V282V	THNSL2_uc002ssw.4_Silent_p.V282V|THNSL2_uc002sta.4_Silent_p.V124V|THNSL2_uc010fhe.3_Silent_p.V124V|THNSL2_uc021vkr.1_Silent_p.V282V	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	282					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TCCGTCTGGTCGTGGCAGTGA	0.463000														63			15		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118147569	118147569	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:118147569G>A	uc003yoh.3	+	0	233	c.3G>A	c.(1-3)atG>atA	p.M1I	SLC30A8_uc010mcz.3_Intron|SLC30A8_uc003yog.3_5'UTR|SLC30A8_uc011lia.2_5'UTR|SLC30A8_uc022bab.1_5'UTR	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	1					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.M1I(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)			TGGCCGTCATGGAGTTTCTTG	0.413000														135			46		0	0	1	0	0
EMID2	136227	broad.mit.edu	37	7	101188637	101188637	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:101188637G>A	uc010lhy.1	+	6	908	c.716G>A	c.(715-717)gGg>gAg	p.G239E	EMID2_uc003uyo.1_Missense_Mutation_p.G241E	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	Homo sapiens EMI domain containing 2 (EMID2), mRNA.	241	Collagen-like 1.					collagen				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	18	Lung NSC(181;0.215)					GGGCCTCCAGGGCCCCGTGGG	0.687000														19			15		0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41151040	41151040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41151040C>T	uc002yyo.3	+	4	845	c.742C>T	c.(742-744)Cca>Tca	p.P248S		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	248						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TATTAATATTCCAGGTGTATT	0.408000														112			25		0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84075595	84075595	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84075595G>A	uc002fhg.1	-	0	168	c.168C>T	c.(166-168)gtC>gtT	p.V56V		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	56					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGAAGGCAGGGACCACTCCGC	0.622000														111			52		0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31672723	31672723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31672723C>T	uc010zue.2	+	3	718	c.703C>T	c.(703-705)Cct>Tct	p.P235S		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	235						cytoplasm|extracellular region	lipid binding										GCTGACCCTCCCTCGGGTGTC	0.667000														16			15		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951748	119951748	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:119951748C>T	uc010inb.3	+	3	2014	c.1818C>T	c.(1816-1818)acC>acT	p.T606T	SYNPO2_uc010ina.3_Silent_p.T606T|SYNPO2_uc003icm.4_Silent_p.T606T|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Silent_p.T534T|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	606	Pro-rich.					Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCTCGCCAACCCGAAACATGA	0.557000														135			33		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218274	130218274	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:130218274C>A	uc004evz.3	+	4	986	c.641C>A	c.(640-642)cCa>cAa	p.P214Q	ARHGAP36_uc004ewa.3_Missense_Mutation_p.P202Q|ARHGAP36_uc004ewb.3_Missense_Mutation_p.P183Q|ARHGAP36_uc004ewc.3_Missense_Mutation_p.P78Q	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	214					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ATTTCCTTTCCAATTGGCCAA	0.498000														38			4		0.00909568	0.00909856	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140251067	140251067	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140251067T>C	uc003lia.2	+	0	3237	c.2379T>C	c.(2377-2379)aaT>aaC	p.N793N	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_uc011dae.2_Silent_p.N793N	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	836					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)			CAGGGTCAAATCACCCCGGAC	0.463000														15			3		0	0	1	0	0
FGF20	26281	broad.mit.edu	37	8	16850716	16850716	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:16850716C>T	uc003wxc.1	-	2	634	c.501G>A	c.(499-501)gtG>gtA	p.V167V	FGF20_uc010lsw.1_3'UTR	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN	Homo sapiens fibroblast growth factor 20 (FGF20), mRNA.	167					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGTTAAGTGCCACAAAATACC	0.433000														177			22		0	0	1	0	0
TMEM163	81615	broad.mit.edu	37	2	135260556	135260556	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:135260556G>A	uc002ttx.3	-	4	537	c.471C>T	c.(469-471)atC>atT	p.I157I	TMEM163_uc002tty.3_Intron	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	Homo sapiens transmembrane protein 163 (TMEM163), mRNA.	157						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		TCACCCCCAAGATGACACAGG	0.443000														18			12		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72146759	72146759	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72146759G>A	uc002atl.4	-	34	6778	c.6305C>T	c.(6304-6306)tCg>tTg	p.S2102L	MYO9A_uc002atk.3_Missense_Mutation_p.S897L	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	2102	Rho-GAP.|Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTATTAGTCGAACCAGACTT	0.363000														259			83		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940841	22940841	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22940841C>T	uc021urt.1	-	3	2025	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCACATTCTTCACATTTGTAG	0.383000														80			18		0	0	1	0	0
SLC25A19	60386	broad.mit.edu	37	17	73282450	73282450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73282450G>A	uc002jns.4	-	1	1133	c.223C>T	c.(223-225)Ccg>Tcg	p.P75S	SLC25A19_uc010dge.3_Missense_Mutation_p.P75S|SLC25A19_uc002jnv.4_Missense_Mutation_p.P75S|SLC25A19_uc002jnu.4_Missense_Mutation_p.P75S|SLC25A19_uc002jnw.4_Missense_Mutation_p.P75S|SLC25A19_uc002jnt.4_Missense_Mutation_p.P75S	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 (SLC25A19), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	75						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			AAAGCTGTCGGACCCTCCTCC	0.577000														99			35		0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131733085	131733085	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131733085C>T	uc004bws.1	+	10	983	c.961C>T	c.(961-963)Cca>Tca	p.P321S		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	321					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACATCATGCCCCAGTGCTTTT	0.483000														79			27		0	0	1	0	0
CRYGC	1420	broad.mit.edu	37	2	208993030	208993031	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:208993030_208993031CC>TT	uc002vco.4	-	2	459_460	c.421_422GG>AA	c.(421-423)ggg>AAg	p.G141K	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_020989	NP_066269	P07315	CRGC_HUMAN	Homo sapiens crystallin, gamma C (CRYGC), mRNA.	141	Beta/gamma crystallin 'Greek key' 4.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTATTGCCGCCCCCGGTAGTTG	0.629000														87			37		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112758801	112758801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:112758801C>T	uc002thk.1	+	10	1750	c.1628C>T	c.(1627-1629)tCt>tTt	p.S543F	MERTK_uc002thl.1_Missense_Mutation_p.S367F	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	543					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GAGGAGGATTCTGAATTAGTG	0.403000														51			33		0	0	1	0	0
CTAGE6P	340307	broad.mit.edu	37	7	143453470	143453470	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143453470C>T	uc003wdk.4	-	0	1374	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	FAM115C_uc011ktn.1_Intron|FAM115C_uc011kto.2_Intron|FAM115C_uc011ktp.2_Intron|FAM115C_uc011ktq.1_Intron|FAM115C_uc011ktr.1_Intron|FAM115C_uc011kts.1_Intron|FAM115C_uc003wdj.1_Intron	NM_178561	NP_848656	Q86UF2	CTGE6_HUMAN	Homo sapiens CTAGE family, member 6, pseudogene (CTAGE6P), mRNA.	428						integral to membrane											TCCAGCTGTTCAGTGGCACGG	0.383000														325			41		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17768936	17768936	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17768936G>A	uc021uqk.1	-	8	744	c.702C>T	c.(700-702)ggC>ggT	p.G234G		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	234					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ACTCCCGGGAGCCCAGGGGTG	0.582000														28			10		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862573	14862573	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:14862573G>A	uc003bzc.3	+	0	2105	c.1995G>A	c.(1993-1995)acG>acA	p.T665T	FGD5_uc011avk.2_Silent_p.T665T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	665					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGAAGAAGACGGAGAACAAAT	0.512000														57			9		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3740730	3740730	+	Silent	SNP	C	T	T	rs139746746	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3740730C>T	uc010xhv.2	+	12	1911	c.1911C>T	c.(1909-1911)taC>taT	p.Y637Y	TJP3_uc010xhs.2_Silent_p.Y604Y|TJP3_uc010xht.2_Silent_p.Y568Y|TJP3_uc010xhu.2_Silent_p.Y613Y|TJP3_uc010xhw.2_Silent_p.Y623Y	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	618	Guanylate kinase-like.					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)		AGGGCCGCTACCCGCCCTACG	0.667000														32			12		0	0	1	0	0
S1PR5	53637	broad.mit.edu	37	19	10625613	10625613	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10625613G>A	uc021uox.1	-	0	75	c.75C>T	c.(73-75)ctC>ctT	p.L25L	S1PR5_uc002mot.2_Silent_p.L25L|S1PR5_uc002mou.2_Silent_p.L25L	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 5 (S1PR5), transcript variant 1, mRNA.	25						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						GCGCACCGCGGAGCTTGCCGG	0.692000														56			17		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48451735	48451736	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48451735_48451736GG>AA	uc003csw.2	-	30	5844_5845	c.5574_5575CC>TT	c.(5572-5577)ctccgg>ctTTgg	p.R1859W	PLXNB1_uc003cst.2_Missense_Mutation_p.R309W|PLXNB1_uc003csu.2_Missense_Mutation_p.R1676W|PLXNB1_uc003csx.2_Missense_Mutation_p.R1859W	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1859					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGTTTTCCCGGAGCACATGCT	0.629000														38			9		0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156845925	156845925	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156845925G>A	uc001fqh.1	+	12	1611	c.1555G>A	c.(1555-1557)Ggc>Agc	p.G519S	NTRK1_uc001fqf.1_Missense_Mutation_p.G483S|NTRK1_uc009wsi.1_Missense_Mutation_p.G218S|NTRK1_uc001fqi.1_Missense_Mutation_p.G513S|NTRK1_uc009wsk.1_Missense_Mutation_p.G516S	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	519	Protein kinase.				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)	GCTGGGGGAGGGCGCCTTTGG	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				92			9		0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211179661	211179661	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:211179661C>T	uc002vec.3	-	0	235	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	36					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TCAATTTTTTCTTCTTTGGGT	0.512000														219			86		0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148951279	148951279	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:148951279A>G	uc003wfp.3	+	4	1389	c.1261A>G	c.(1261-1263)Agg>Ggg	p.R421G		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CATCCCTTGGAGGAAAAGCCG	0.622000														33			15		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230902178	230902178	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:230902178C>T	uc002vqd.2	-	4	1910	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E	FBXO36_uc010fxi.1_Intron	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	484						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AAAGAGTATTCCTATCATGTA	0.333000														49			18		0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258375	56258375	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56258375C>T	uc001nix.1	-	0	472	c.472G>A	c.(472-474)Gag>Aag	p.E158K	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CACATGGTCTCCATCAGGCCA	0.512000														94			36		0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187987	37187987	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:37187987C>T	uc002hrd.1	+	0		c.1829C>T								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		GGTTGTAGCTCAACCTCCTGT	0.498000														24			10		0	0	1	0	0
LOC126536	126536	broad.mit.edu	37	19	16131426	16131426	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16131426C>T	uc002nbw.2	+	2		c.257C>T			LOC126536_uc002nca.3_5'Flank|LOC126536_uc010xow.2_5'Flank|LOC126536_uc002ncb.1_5'Flank					Homo sapiens uncharacterized LOC126536 (LOC126536), non-coding RNA.																		CATCAGTGCCCTGGAAGTGAA	0.627000														29			12		0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42577767	42577767	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42577767G>A	uc003clf.2	+	12	1492	c.1368G>A	c.(1366-1368)ctG>ctA	p.L456L	VIPR1_uc021wwl.1_Silent_p.L415L|VIPR1_uc011azn.2_Silent_p.L429L|VIPR1_uc011azl.1_Silent_p.L408L|VIPR1_uc011azm.1_Silent_p.L246L|VIPR1_uc003clg.2_Silent_p.L101L	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	456					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		AAGTCTCCCTGGTCTGACCAC	0.726000														3			4		0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201869723	201869723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201869723C>T	uc021phl.1	-	1	666	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	LMOD1_uc021phm.1_Missense_Mutation_p.E140K|LMOD1_uc010ppu.2_Intron	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	140					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCACCAGCTTCATCTCTGTCT	0.562000														206			67		0	0	1	0	0
RASSF4	83937	broad.mit.edu	37	10	45484726	45484726	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:45484726C>T	uc001jbp.3	+	5	2178	c.629C>T	c.(628-630)tCc>tTc	p.S210F	RASSF4_uc001jbo.3_Missense_Mutation_p.S179F|RASSF4_uc009xmn.3_Missense_Mutation_p.S109F|RASSF4_uc001jbq.3_Missense_Mutation_p.S76F|RASSF4_uc001jbt.3_Missense_Mutation_p.S136F			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	179	Ras-associating.				cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GTACAGACCTCCGTGTTTACT	0.547000														37			14		0	0	1	0	0
FLJ38723	0	broad.mit.edu	37	15	62539564	62539564	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:62539564C>T	uc002ajj.1	-	3	309	c.301G>A	c.(301-303)Gag>Aag	p.E101K	FLJ38723_uc002ain.1_Non-coding_Transcript|DQ583624_uc021sof.1_5'Flank|DQ596164_uc021sog.1_5'Flank|DQ590682_uc002ajw.3_5'Flank|DQ578824_uc010uhq.2_5'Flank|DQ573543_uc002ajx.3_5'Flank|DQ596057_uc002ajy.3_5'Flank|DQ586930_uc021soh.1_5'Flank					RecName: Full=Golgin subfamily A member 2-like protein 4;																		TGCAGATACTCGGCATACTGC	0.542000														28			13		0	0	1	0	0
TCRVA15	0	broad.mit.edu	37	14	22205179	22205179	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22205179C>T	uc001wbp.2	+	1	292	c.243C>T	c.(241-243)atC>atT	p.I81I	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Intron|TCRVA15_uc021rpc.1_Non-coding_Transcript					SubName: Full=Tcell alpha chain; Flags: Fragment;																		CCCTGTTTATCCCTGCCGACA	0.498000														19			17		0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908993	158908993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158908993C>T	uc001ftb.3	+	3	785	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S	PYHIN1_uc001fta.4_Missense_Mutation_p.P179S|PYHIN1_uc001ftc.3_Missense_Mutation_p.P170S|PYHIN1_uc001ftd.3_Missense_Mutation_p.P179S|PYHIN1_uc001fte.3_Missense_Mutation_p.P170S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	179					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TTCCCCACCTCCCCAGACCTC	0.522000														138			50		0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280812	105280812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:105280812G>A	uc010npd.3	-	0	473	c.238C>T	c.(238-240)Ctt>Ttt	p.L80F	SERPINA7_uc004eme.2_Missense_Mutation_p.L80F|SERPINA7_uc010npe.2_Missense_Mutation_p.L80F	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	80					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCAAAGGAAAGCATAACCAAA	0.498000														30			30		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50683749	50683749	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:50683749C>T	uc002lfe.2	+	7	1901	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	DCC_uc010xdr.1_Missense_Mutation_p.P277S|DCC_uc010dpf.2_Missense_Mutation_p.P84S	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	429	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.P429H(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAGTGTCCTCCCTTCGGCTCC	0.537000														180			82		0	0	1	0	0
DOK2	9046	broad.mit.edu	37	8	21769936	21769936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:21769936G>A	uc003wzx.1	-	1	242	c.149C>T	c.(148-150)cCt>cTt	p.P50L	DOK2_uc003wzy.1_Missense_Mutation_p.P50L|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_Intron	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	50	PH.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		ACACCGACGAGGCTTCTCCGG	0.711000														10			4		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150817106	150817106	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:150817106G>A	uc004fev.4	+	8	981	c.649G>A	c.(649-651)Gga>Aga	p.G217R		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	217						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)					AGGTCAAAGAGGACACACTAG	0.408000														57			92		0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47253785	47253785	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:47253785G>A	uc003oyv.3	-	1	1076	c.643C>T	c.(643-645)Ccg>Tcg	p.P215S		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	215					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GAGAAGGACGGGAGTGTGCCA	0.542000														60			12		0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898673	30898673	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30898673C>T	uc002wxq.3	+	1	1273	c.1093C>T	c.(1093-1095)Ctc>Ttc	p.L365F	KIF3B_uc010ztv.2_Missense_Mutation_p.L365F|KIF3B_uc010ztw.2_Missense_Mutation_p.L365F	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	365					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GATTGCTCGGCTCAAGGCCCA	0.557000														76			9		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51887531	51887531	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51887531G>A	uc001rys.1	+	19	2922	c.2744G>A	c.(2743-2745)gGa>gAa	p.G915E	SLC4A8_uc001rym.3_Missense_Mutation_p.G862E|SLC4A8_uc001ryn.3_Missense_Mutation_p.G862E|SLC4A8_uc001ryo.2_Missense_Mutation_p.G862E|SLC4A8_uc010snj.2_Missense_Mutation_p.G942E|SLC4A8_uc001ryr.3_Missense_Mutation_p.G915E	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	915					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTTTACATGGGAGTTTCTTCA	0.443000														169			33		0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50225432	50225432	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:50225432G>A	uc003cyj.3	+	18	2440	c.2242G>A	c.(2242-2244)Ggt>Agt	p.G748S	SEMA3F_uc003cyk.3_Missense_Mutation_p.G717S	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	748					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GTACTGCCAGGGTTACTGGCG	0.701000														14			9		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43774687	43774687	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:43774687C>T	uc001ciu.3	+	7	1250	c.1073C>T	c.(1072-1074)tCa>tTa	p.S358L	TIE1_uc010okd.2_Missense_Mutation_p.S358L|TIE1_uc010oke.2_Missense_Mutation_p.S313L|TIE1_uc009vwq.3_Missense_Mutation_p.S314L|TIE1_uc010okf.1_Missense_Mutation_p.S3L|TIE1_uc010okg.2_Missense_Mutation_p.S3L|TIE1_uc010okc.2_Intron	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	358					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AACATGGCCTCAGAACTGGAG	0.602000														70			15		0	0	1	0	0
AMN	81693	broad.mit.edu	37	14	103396997	103396997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:103396997G>A	uc001ymg.4	+	11	1375	c.1342G>A	c.(1342-1344)Ggg>Agg	p.G448R	AMN_uc001ymh.4_Missense_Mutation_p.G394R	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN	Homo sapiens amnionless homolog (mouse) (AMN), mRNA.	448					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTGTTCGCCGGGGCCGAGGC	0.716000														11			6		0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125282298	125282298	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125282298G>A	uc011lyw.2	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						ATAGCCTAAGGAACAGGGACA	0.458000														52			23		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49425842	49425842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49425842G>A	uc001rta.4	-	38	12646	c.12646C>T	c.(12646-12648)Cct>Tct	p.P4216S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4216	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGCTGCTGAGGACTTAAGTGC	0.622000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				62			7		0	0	1	0	0
SPP1	6696	broad.mit.edu	37	4	88903860	88903860	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:88903860G>A	uc003hra.3	+	6	922	c.757G>A	c.(757-759)Gag>Aag	p.E253K	SPP1_uc011cde.2_Missense_Mutation_p.E266K|SPP1_uc003hrb.3_Missense_Mutation_p.E226K|SPP1_uc003hrc.3_Missense_Mutation_p.E239K|SPP1_uc003hrd.3_Missense_Mutation_p.E212K	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	Homo sapiens secreted phosphoprotein 1 (SPP1), transcript variant 1, mRNA.	253					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		AGCCAATGATGAGAGCAATGA	0.468000														102			31		0	0	1	0	0
TRIL	9865	broad.mit.edu	37	7	28996799	28996799	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:28996799C>T	uc003szt.3	-	2	1228	c.861G>A	c.(859-861)cgG>cgA	p.R287R	DQ601810_uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	Homo sapiens TLR4 interactor with leucine-rich repeats (TRIL), mRNA.	288					inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										GCTGGCTCAGCCGATTACCCT	0.692000														16			3		0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570323	22570323	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:22570323G>A	uc003nds.3	+	0	646	c.519G>A	c.(517-519)gcG>gcA	p.A173A		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA.	173	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					Aggcggaggcggagagggcgg	0.756000														3			3		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68661616	68661616	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:68661616G>A	uc010bib.3	-	2	258	c.171C>T	c.(169-171)gtC>gtT	p.V57V	ITGA11_uc002ari.3_Silent_p.V57V	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	57					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGGCGCCCACGACCAGCCTGG	0.567000														86			21		0	0	1	0	0
CPVL	54504	broad.mit.edu	37	7	29132281	29132281	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:29132281C>T	uc003szv.3	-	5	619	c.500G>A	c.(499-501)gGa>gAa	p.G167E	CPVL_uc003szw.3_Missense_Mutation_p.G167E|CPVL_uc003szx.3_Missense_Mutation_p.G167E	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	167					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GACTGCATATCCGTGGGTATC	0.438000														55			10		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123797160	123797160	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:123797160A>C	uc004bkv.3	-	4	535	c.505T>G	c.(505-507)Tca>Gca	p.S169A	C5_uc010mvm.1_Missense_Mutation_p.S169A|C5_uc010mvn.1_Missense_Mutation_p.S169A	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	169					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCAACTTCTGATCCTTCAGGA	0.299000														29			6		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566459	5566459	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5566459C>T	uc010qzh.2	-	0	295	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E99K(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGTGATTTCGCGAGCCCCT	0.468000														43			30		0	0	1	0	0
PGA5	5222	broad.mit.edu	37	11	61015963	61015963	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:61015963G>A	uc001nqz.3	+	5	784	c.729G>A	c.(727-729)tgG>tgA	p.W243*		NM_014224	NP_055039	P00790	PEPA_HUMAN	Homo sapiens pepsinogen 5, group I (pepsinogen A) (PGA5), mRNA.	243					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						GTCTGAACTGGGTGCCTGTTA	0.547000														206			81		0	0	1	0	0
WNT10A	80326	broad.mit.edu	37	2	219754737	219754737	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219754737C>T	uc002vjd.1	+	2	871	c.408C>T	c.(406-408)atC>atT	p.I136I		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	136					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTACGCCATCGCAGCAGCTG	0.617000														88			12		0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13183510	13183510	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:13183510G>A	uc010mia.1	-	17	2613	c.2556C>T	c.(2554-2556)atC>atT	p.I852I	MPDZ_uc010mhz.3_Silent_p.I852I|MPDZ_uc011lmn.2_Silent_p.I852I|MPDZ_uc010mhy.3_Silent_p.I852I|MPDZ_uc003zlb.4_Silent_p.I852I	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	852					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GAGTAGAGTAGATGCTGTCAT	0.403000														27			5		0	0	1	0	0
FAM22A	728118	broad.mit.edu	37	10	88988177	88988177	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:88988177C>T	uc001kek.3	+	1	923	c.540C>T	c.(538-540)acC>acT	p.T180T	LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron	NM_001099338	NP_001092808	Q8IVF1	FA22A_HUMAN	Homo sapiens family with sequence similarity 22, member A (FAM22A), mRNA.	180																	TGCTGTCTACCCTCCCCAGCA	0.677000			T	YWHAE	edometrial stromal sarcoma									183			28		0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46343634	46343634	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:46343634G>A	uc002ldd.3	+	10	1779	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	CTIF_uc002ldc.3_Missense_Mutation_p.E472K|CTIF_uc002lde.4_Missense_Mutation_p.E101K	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	472	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GCAGGACGTGGAGCGCTGGCT	0.672000														87			19		0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15262412	15262412	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:15262412C>T	uc001rcs.3	-	3	372	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	RERG_uc001rct.3_Missense_Mutation_p.E78K|RERG_uc010shu.2_Missense_Mutation_p.E59K	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	78					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						ACAAAGCCTTCCCCCCATCGC	0.458000														464			51		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120241121	120241121	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:120241121G>A	uc001txj.2	-	9	1240	c.1184C>T	c.(1183-1185)tCg>tTg	p.S395L	CIT_uc001txh.2_5'UTR|CIT_uc001txi.2_Missense_Mutation_p.S395L	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	395	AGC-kinase C-terminal.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGAAACCCACGAATTCTTCTC	0.522000														98			42		0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19822199	19822199	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19822199G>A	uc002nnk.1	-	3	2045	c.1891C>T	c.(1891-1893)Cga>Tga	p.R631*		NM_021030	NP_066358	P17017	ZNF14_HUMAN	Homo sapiens zinc finger protein 14 (ZNF14), mRNA.	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCATGCAGTCGAAAGTGACTG	0.393000														127			14		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27458257	27458257	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27458257C>T	uc002rji.3	+	23	4093	c.3931C>T	c.(3931-3933)Ccc>Tcc	p.P1311S	CAD_uc010eyw.3_Missense_Mutation_p.P1248S	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1311	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTTTAAGATCCCCAAGAAGAA	0.572000														108			14		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814126	123814126	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123814126G>A	uc010sab.2	-	0	420	c.420C>T	c.(418-420)gtC>gtT	p.V140V		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V140V(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTTGGGAACAGACATGGCCAT	0.567000														18			12		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37514853	37514853	+	Missense_Mutation	SNP	C	T	T	rs143674262		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:37514853C>T	uc003chd.3	+	2	375	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	ITGA9_uc003chc.3_Missense_Mutation_p.R108W	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	108					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.R108H(1)|p.R108Q(1)|p.R108R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AGGGAAGAATCGGGGCACGTC	0.582000														45			8		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958711	49958711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:49958711G>A	uc004dow.1	-	4	777	c.653C>T	c.(652-654)tCc>tTc	p.S218F	AKAP4_uc004dou.1_Missense_Mutation_p.S209F|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.S40F	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	218					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GACGTAGAAGGAAAGGTCATC	0.438000														36			84		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123966241	123966241	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:123966241C>T	uc022bag.1	+	0	2491	c.2491C>T	c.(2491-2493)Cct>Tct	p.P831S	ZHX2_uc003ypk.1_Missense_Mutation_p.P831S	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	831						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGACTGCGTCCCTGCAGAGGC	0.567000														25			6		0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686601	54686601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54686601C>T	uc009znk.3	-	1	1189	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	NFE2_uc001sfq.3_Missense_Mutation_p.E227K|NFE2_uc001sfr.4_Missense_Mutation_p.E227K|NFE2_uc009znl.3_Missense_Mutation_p.E227K	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	227					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GCCCGACGTTCATCCCGACTC	0.577000														24			14		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19760614	19760614	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19760614G>A	uc002nnh.4	-	17	2499	c.2471C>T	c.(2470-2472)cCc>cTc	p.P824L	ATP13A1_uc002nne.3_5'UTR|ATP13A1_uc002nnf.4_Missense_Mutation_p.P192L|ATP13A1_uc002nng.3_Missense_Mutation_p.P706L	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	824					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAGCTGCTGGGGGTCGGTGGC	0.687000														40			7		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73447448	73447448	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73447448C>T	uc001jrx.4	+	17	2415	c.2025C>T	c.(2023-2025)ttC>ttT	p.F675F	CDH23_uc001jry.3_Silent_p.F675F|CDH23_uc001jrz.3_Silent_p.F675F	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	677	Cadherin 7.				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						CCGCCTACTTCGTCTCCGTGG	0.627000														17			21		0	0	1	0	0
CCL15	6359	broad.mit.edu	37	17	34328476	34328476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:34328476G>A	uc010wcu.2	-	0	609	c.56C>T	c.(55-57)tCc>tTc	p.S19F	CCL15_uc010wcs.2_Non-coding_Transcript|CCL15_uc010wct.2_Non-coding_Transcript	NM_032965	NP_116741	Q16663	CCL15_HUMAN	Homo sapiens chemokine (C-C motif) ligand 15 (CCL15), mRNA.	19					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity	p.S19Y(2)		large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGGCCTGGGATCCAAGGAC	0.587000														40			6		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	120473	120473	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000209.1:120473G>A	uc010yie.2	+	3	436	c.425G>A	c.(424-426)gGa>gAa	p.G142E	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.G139E|KIR2DL2_uc002qum.3_Missense_Mutation_p.G142E	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	142	Ig-like C2-type 2.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										GTTCTGGCAGGAGAGAATGTG	0.572000														161			86		0	0	1	0	0
SPANXN1	494118	broad.mit.edu	37	X	144329145	144329145	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:144329145G>A	uc004fcb.2	+	0	39	c.39G>A	c.(37-39)agG>agA	p.R13R		NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN	Homo sapiens SPANX family, member N1 (SPANXN1), mRNA.	13										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGAAGAGGAAGAGCCCCT	0.463000														60			90		0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29354130	29354130	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29354130C>T	uc002rmv.3	+	2	379	c.140C>T	c.(139-141)tCt>tTt	p.S47F	CLIP4_uc002rmu.3_Missense_Mutation_p.S47F|CLIP4_uc010ezm.1_Missense_Mutation_p.S47F|CLIP4_uc002rmw.3_Non-coding_Transcript|CLIP4_uc010ymn.1_Missense_Mutation_p.S29F	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	47										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TCAGAATTTTCTTTCTTTGAT	0.274000														36			16		0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53792933	53792933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53792933C>T	uc002qbk.3	-	0	1943	c.695G>A	c.(694-696)aGa>aAa	p.R232K		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	232					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CATAAAAACTCTTTGCTTGAA	0.388000														160			15		0	0	1	0	0
BC139719	0	broad.mit.edu	37	16	90161013	90161013	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:90161013C>T	uc002fqq.3	+	2	243	c.243C>T	c.(241-243)ttC>ttT	p.F81F	BC139719_uc002fqp.3_Intron					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																		CGGGGCCCTTCGGGCAGGTCT	0.667000														61			24		0	0	1	0	0
MPV17	4358	broad.mit.edu	37	2	27532804	27532804	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27532804C>A	uc002rjr.3	-	6	554	c.507G>T	c.(505-507)ctG>ctT	p.L169L	UCN_uc002rjp.1_5'Flank|UCN_uc021vfc.1_5'Flank|MPV17_uc002rjs.3_Silent_p.L169L|MPV17_uc002rjt.3_Non-coding_Transcript	NM_002437	NP_002428	P39210	MPV17_HUMAN	Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), nuclear gene encoding mitochondrial protein, mRNA.	169					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTCCAGGACAGGTAGGAGT	0.517000														36			13		0.00010058	0.000100711	1	1	0
PGC	5225	broad.mit.edu	37	6	41710071	41710071	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:41710071C>T	uc003ora.2	-	4	671	c.604G>A	c.(604-606)Gag>Aag	p.E202K	PGC_uc021yzm.1_Missense_Mutation_p.E202K	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	202					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			AGGGCGCCCTCCTGCACCATG	0.642000														70			33		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44131741	44131741	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:44131741C>T	uc003bdy.2	-	6	954	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	EFCAB6_uc003bdz.2_Missense_Mutation_p.E62K|EFCAB6_uc010gzi.2_Missense_Mutation_p.E62K|EFCAB6_uc011aqa.2_Missense_Mutation_p.E108K|EFCAB6_uc003bea.2_Missense_Mutation_p.E211K|EFCAB6_uc003beb.4_Missense_Mutation_p.E108K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GCTTACTTTTCGTATTCCTCG	0.443000														107			41		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77442766	77442766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77442766C>T	uc004ajl.1	-	6	1007	c.769G>A	c.(769-771)Ggc>Agc	p.G257S	TRPM6_uc004ajk.1_Missense_Mutation_p.G252S|TRPM6_uc022bib.1_Missense_Mutation_p.G252S|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.G257S|TRPM6_uc010mpd.1_Missense_Mutation_p.G257S|TRPM6_uc010mpe.1_Missense_Mutation_p.G257S|TRPM6_uc004ajn.1_Missense_Mutation_p.G257S	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	257					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.V256V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCATACTTGCCCACGGTCCCA	0.517000														89			10		0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75869049	75869049	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:75869049G>A	uc001vjl.1	-	17	3604	c.3257C>T	c.(3256-3258)cCc>cTc	p.P1086L	TBC1D4_uc010tht.1_Missense_Mutation_p.P296L|TBC1D4_uc010thu.1_Missense_Mutation_p.P243L|TBC1D4_uc010aer.2_Missense_Mutation_p.P1078L|TBC1D4_uc010aes.2_Missense_Mutation_p.P1023L	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	1086	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity	p.P1086L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAGGAACCAGGGGGCAGCATA	0.393000														84			18		0	0	1	0	0
RAD17	5884	broad.mit.edu	37	5	68677778	68677778	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:68677778G>A	uc003jwo.3	+	3	497	c.435G>A	c.(433-435)acG>acA	p.T145T	RAD17_uc003jwg.3_Silent_p.T134T|RAD17_uc003jwi.3_Silent_p.T134T|RAD17_uc003jwh.3_Silent_p.T134T|RAD17_uc003jwj.3_Silent_p.T134T|RAD17_uc003jwk.3_Silent_p.T134T|RAD17_uc003jwl.3_Silent_p.T134T|RAD17_uc003jwm.3_5'UTR|RAD17_uc003jwn.3_Silent_p.T48T	NM_133339	NP_579917	O75943	RAD17_HUMAN	Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA.	145					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		GAAAGACAACGACCTTAAAAA	0.333000								Other conserved DNA damage response genes						69			23		0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77639588	77639588	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:77639588G>A	uc001oys.3	-	10	1199	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Missense_Mutation_p.R391C	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	391					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)			GCAGCAATACGAACCTCTAGA	0.493000														15			3		0	0	1	0	0
TPPP2	122664	broad.mit.edu	37	14	21499223	21499223	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21499223G>A	uc001vzh.3	+	2	414	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	NDRG2_uc010tll.2_Intron	NM_173846	NP_776245	P59282	TPPP2_HUMAN	Homo sapiens tubulin polymerization-promoting protein family member 2 (TPPP2), mRNA.	76						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGCAGTGAAGGAACTGGGCCA	0.502000														63			29		0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153925837	153925837	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153925837G>A	uc021pab.1	-	5	671	c.512C>T	c.(511-513)tCt>tTt	p.S171F	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_5'UTR	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	171					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCAGAGTCAGAGCTTGTCCT	0.587000														71			17		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759380	121759380	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:121759380G>A	uc003ksw.1	+	3	1154	c.948G>A	c.(946-948)ctG>ctA	p.L316L	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Silent_p.L316L|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Silent_p.L363L|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Silent_p.L316L	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	316					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTGAGTATCTGAAAAAAGTGA	0.443000														96			13		0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17198952	17198952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:17198952C>T	uc003wxm.3	-	5	891	c.652G>A	c.(652-654)Gag>Aag	p.E218K	MTMR7_uc003wxn.3_5'UTR	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	218	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TGCTCGTCCTCTAGGCACCGG	0.572000														38			11		0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115614311	115614311	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:115614311C>T	uc003vhj.2	-	3	434	c.181_splice	c.e3-1	p.M61_splice	TFEC_uc003vhk.2_Intron|TFEC_uc003vhl.4_Intron|TFEC_uc011kmw.2_Splice_Site_p.M151_splice	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	61	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CGTCCTCCATCTAGCAAAATA	0.323000														49			20		0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125239414	125239414	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125239414G>A	uc011lyu.2	-	0	792	c.792C>T	c.(790-792)tcC>tcT	p.S264S	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TGGTGTTGCTGGATGGGGGAA	0.418000														98			48		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071513	9071513	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9071513G>A	uc002mkp.3	-	2	16137	c.15933C>T	c.(15931-15933)acC>acT	p.T5311T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5313	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						CCATGAGAGTGGTCACCTCTG	0.532000														71			14		0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51362271	51362271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:51362271C>T	uc010lxy.1	+	6	634	c.263C>T	c.(262-264)tCc>tTc	p.S88F	SNTG1_uc003xqs.1_Missense_Mutation_p.S88F|SNTG1_uc010lxz.1_Missense_Mutation_p.S88F|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	88	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.S88S(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCAAAAATCTCCAAGGAACAA	0.313000														32			11		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11580895	11580895	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11580895C>T	uc001ash.4	+	9	2490	c.2352C>T	c.(2350-2352)atC>atT	p.I784I	PTCHD2_uc001asi.1_Silent_p.I784I	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	784					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)		TCTCCTGCATCACCTGTTCAG	0.637000														9			7		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215901705	215901705	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:215901705C>T	uc001hku.1	-	60	12120	c.11733G>A	c.(11731-11733)gaG>gaA	p.E3911E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3911	Fibronectin type-III 24.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.E3911D(2)|p.E3910E(1)		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)		AAACAGACTCCTCTTCAATGC	0.453000										HNSCC(13;0.011)				35			19		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50216681	50216681	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50216681C>T	uc010eng.3	+	19	2547	c.2231C>T	c.(2230-2232)tCc>tTc	p.S744F	CPT1C_uc002ppk.3_Missense_Mutation_p.S733F|CPT1C_uc010enh.3_Missense_Mutation_p.S744F|CPT1C_uc002ppj.3_Missense_Mutation_p.S744F|CPT1C_uc010eni.1_Missense_Mutation_p.S312F	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	744					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTCCAGGATTCCCACAGGCTG	0.592000														72			22		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64608117	64608117	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:64608117G>A	uc001xgl.3	+	80	15265	c.15035G>A	c.(15034-15036)gGg>gAg	p.G5012E	SYNE2_uc001xgm.3_Missense_Mutation_p.G5012E|SYNE2_uc010apy.3_Missense_Mutation_p.G1397E|SYNE2_uc001xgn.3_5'UTR|SYNE2_uc021rui.1_5'UTR|SYNE2_uc001xgo.3_Non-coding_Transcript	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5012					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATCAGTATCGGGAACCAGCTT	0.348000														80			25		0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155097	12155097	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12155097C>T	uc021upl.1	-	3	1285	c.1119G>A	c.(1117-1119)ggG>ggA	p.G373G	ZNF878_uc002mta.1_Silent_p.G420G	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGAAGGTTTTCCCACATTGTT	0.398000														60			16		0	0	1	0	0
ZNF100	163227	broad.mit.edu	37	19	21910476	21910476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:21910476G>A	uc002nqi.3	-	4	837	c.638C>T	c.(637-639)tCa>tTa	p.S213L	ZNF100_uc002nqh.3_Missense_Mutation_p.S149L	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	Homo sapiens zinc finger protein 100 (ZNF100), mRNA.	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						CATGCAAAATGATTTTTCACA	0.308000														58			23		0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76128477	76128477	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76128477C>T	uc002jup.2	+	3	718	c.336C>T	c.(334-336)ttC>ttT	p.F112F	TMC6_uc002jul.1_5'UTR|TMC8_uc010dhh.1_Missense_Mutation_p.P174S|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	112						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			ACTTCACCTTCCTCCGCTTCC	0.682000														18			7		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113169251	113169251	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113169251C>T	uc010mtz.3	-	37	8966	c.8629G>A	c.(8629-8631)Gga>Aga	p.G2877R	SVEP1_uc010mty.3_Missense_Mutation_p.G803R	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2877	Sushi 24.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTCCAACTTCCATTGGCAAGA	0.537000														46			16		0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71665544	71665544	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:71665544G>A	uc001jql.3	+	17	1452	c.916_splice	c.e17-1	p.G306_splice	COL13A1_uc021prz.1_Splice_Site_p.G284_splice|COL13A1_uc021psa.1_Splice_Site_p.G249_splice|COL13A1_uc021psb.1_Splice_Site_p.G255_splice|COL13A1_uc001jqk.2_Splice_Site_p.G284_splice|COL13A1_uc021psc.1_Splice_Site_p.G287_splice|COL13A1_uc021psd.1_Splice_Site_p.G284_splice|COL13A1_uc010qjf.2_Splice_Site_p.G249_splice|COL13A1_uc021pse.1_Splice_Site_p.G255_splice|COL13A1_uc021psf.1_Splice_Site_p.G306_splice|COL13A1_uc021psg.1_Splice_Site_p.G284_splice|COL13A1_uc021psh.1_Splice_Site_p.G287_splice	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	306	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	TTTTCCCAGGGAGACCCAGGG	0.542000														25			9		0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43858486	43858486	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43858486G>A	uc002owi.3	+	2	363	c.321G>A	c.(319-321)gaG>gaA	p.E107E	CD177_uc021uvf.1_Silent_p.E107E|CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	107					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GCCGCCAGGAGGACTTCTGCA	0.677000														64			27		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191710	66191710	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66191710C>T	uc001ohx.1	+	6	1525	c.1349C>T	c.(1348-1350)aCc>aTc	p.T450I	NPAS4_uc010rpc.1_Missense_Mutation_p.T240I	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	450					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						CATTTGCCCACCCCATCCAGC	0.562000														187			82		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25272796	25272796	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25272796C>T	uc010aaa.3	+	12	1864	c.1531_splice	c.e12-1	p.L511_splice	ATP12A_uc001upp.3_Splice_Site_p.L505_splice	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	505					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCCTTCCCAGCTCTCCATCCA	0.507000														41			23		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812786	2812786	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2812786C>T	uc002crk.3	+	10	2806	c.2257C>T	c.(2257-2259)Cgc>Tgc	p.R753C	SRRM2_uc002crj.1_Missense_Mutation_p.R657C|SRRM2_uc002crl.1_Missense_Mutation_p.R753C|SRRM2_uc010bsu.1_Missense_Mutation_p.R657C	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	753	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						GAAGAAATCTCGCATTTCTTC	0.488000														112			37		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718726	25718726	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:25718726C>T	uc003xes.2	-	12	1446	c.1181G>A	c.(1180-1182)cGa>cAa	p.R394Q	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	394					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GTCTGCGGCTCGCTTCAAAAT	0.488000														68			35		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33586675	33586675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33586675G>A	uc002xbi.2	+	34	4590	c.4273G>A	c.(4273-4275)Gaa>Aaa	p.E1425K		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1383						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGCAAGTACGAAGCAGATGC	0.637000														42			17		0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205308499	205308499	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205308499C>T	uc001hcf.1	-	3	1148	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	KLHDC8A_uc010prg.1_Missense_Mutation_p.V81I|KLHDC8A_uc001hcg.1_Missense_Mutation_p.V194I	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	194										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ATGTCAAAGACCTCGAAAGCG	0.567000														29			5		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688703	26688703	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26688703C>T	uc003acb.3	+	1	622	c.426C>T	c.(424-426)gtC>gtT	p.V142V	SEZ6L_uc003acd.3_Silent_p.V142V|SEZ6L_uc011akd.2_Silent_p.V142V|SEZ6L_uc003ace.3_Silent_p.V142V|SEZ6L_uc011akc.2_Silent_p.V142V|SEZ6L_uc003acc.3_Silent_p.V142V|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	142						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAGCCACTGTCCAAAGGGCAG	0.662000														35			12		0	0	1	0	0
MKNK1	8569	broad.mit.edu	37	1	47024335	47024335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47024335G>A	uc001cqb.3	-	13	1554	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	MKNK1_uc010omd.2_Missense_Mutation_p.S301F|MKNK1_uc001cqc.3_Missense_Mutation_p.S396F|MKNK1_uc009vyi.3_3'UTR|MKNK1_uc010ome.2_3'UTR|LOC100507423_uc021onb.1_Intron	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 1 (MKNK1), transcript variant 1, mRNA.	437					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GCAGGGAGGGGAAAGCTTCAT	0.627000														36			22		0	0	1	0	0
PPP1R14D	54866	broad.mit.edu	37	15	41108451	41108451	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:41108451C>T	uc001zmz.3	-	3	440	c.372_splice	c.e3-1	p.G124_splice	PPP1R14D_uc001zmy.3_Splice_Site_p.D86_splice	NM_001130143	NP_001123615	Q9NXH3	PP14D_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14D (PPP1R14D), transcript variant 2, mRNA.	0					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GTTGCTTGATCCTATTTGGAA	0.527000														55			7		0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779004	31779004	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31779004C>T	uc003nxh.3	-	1	929	c.746G>A	c.(745-747)aGg>aAg	p.R249K	HSPA1L_uc010jte.3_Missense_Mutation_p.R249K|HSPA1L_uc021yuz.1_Missense_Mutation_p.R249K	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	249					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTTGTGTTTCCTCTTGAACTC	0.592000														97			39		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55939061	55939061	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55939061G>A	uc003pcs.3	-	19	2166	c.1934C>T	c.(1933-1935)tCa>tTa	p.S645L	COL21A1_uc010jzz.3_Missense_Mutation_p.S30L|COL21A1_uc011dxg.2_Missense_Mutation_p.S30L|COL21A1_uc011dxh.2_Missense_Mutation_p.S30L|COL21A1_uc003pcr.3_Missense_Mutation_p.H3Y	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	645	Collagen-like 3.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGGCCTGGTGAGCCATTGCT	0.333000														112			20		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150906174	150906174	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:150906174G>A	uc003eyp.3	+	11	1789	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	MED12L_uc011bnz.2_Missense_Mutation_p.E414K|MED12L_uc003eyn.3_Missense_Mutation_p.E554K|MED12L_uc003eyo.3_Missense_Mutation_p.E554K	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	554					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGATGAGAAGGAGTCTATTTC	0.353000														76			35		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141260537	141260537	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141260537C>T	uc002tvj.1	-	53	9629	c.8657G>A	c.(8656-8658)aGt>aAt	p.S2886N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2886					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTACCTGCACTTTTACACTT	0.368000										TSP Lung(27;0.18)				80			19		0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8111504	8111504	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:8111504G>A	uc001ijz.3	+	4	1550	c.993G>A	c.(991-993)agG>agA	p.R331R	GATA3_uc001ika.3_Silent_p.R330R	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	330					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding	p.R330fs*22(1)|p.R331fs*24(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCTGGAGGAGGAATGCCAATG	0.557000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""							80			41		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087344	9087344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9087344G>A	uc002mkp.3	-	0	4675	c.4471C>T	c.(4471-4473)Cct>Tct	p.P1491S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1491	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						GTGGACATAGGTGGAAAAATA	0.428000														203			18		0	0	1	0	0
AARD	441376	broad.mit.edu	37	8	117950651	117950651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:117950651G>A	uc003yof.3	+	0	188	c.169G>A	c.(169-171)Gag>Aag	p.E57K	AL832163_uc022baa.1_Non-coding_Transcript	NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN	Homo sapiens chromosome 8 open reading frame 85 (C8orf85), mRNA.	57																	CCCGCTGCTGGAGGACCTCAG	0.741000														20			7		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32020752	32020753	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32020752_32020753GG>AA	uc003nzl.2	-	25	9005_9006	c.8803_8804CC>TT	c.(8803-8805)ccc>TTc	p.P2935F		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2982	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTGGGGGCGGGAGTTTCTTCC	0.644000														52			18		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196771386	196771386	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196771386C>T	uc002utj.4	-	26	4433	c.4332G>A	c.(4330-4332)ctG>ctA	p.L1444L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1444	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCATACCTTCAGGTTATCTG	0.388000														96			41		0	0	1	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940552	67940552	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:67940552G>A	uc001xjk.3	-	2	499	c.89C>T	c.(88-90)gCc>gTc	p.A30V	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.A30V	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	30						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GAACTCCCAGGCCGCTGTGAA	0.627000														21			8		0	0	1	0	0
GCFC2	6936	broad.mit.edu	37	2	75929446	75929447	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:75929446_75929447GG>AA	uc002sno.3	-	2	627_628	c.497_498CC>TT	c.(496-498)tcc>tTT	p.S166F	GCFC2_uc010ffs.3_5'Flank|GCFC2_uc002snn.3_5'UTR|GCFC2_uc010fft.3_5'UTR|GCFC2_uc002snp.4_Missense_Mutation_p.S166F	NM_003203	NP_001188263	P16383	GCF_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 2 (GCFC2), transcript variant 1, mRNA.	166					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										TACCAGAGATGGAGGAGGTATG	0.450000														119			57		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167086743	167086743	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167086743G>A	uc001geb.1	+	2	400	c.384G>A	c.(382-384)gaG>gaA	p.E128E		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	128					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ATCGCCAAGAGGCGCCCTGGA	0.547000														15			5		0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54673325	54673325	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54673325G>A	uc010erf.3	-	2	517	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	TMC4_uc002qdo.3_Missense_Mutation_p.R123W	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	129						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TTGGACCTCCGAAGTAGCCGC	0.592000														82			42		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233275579	233275579	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233275579G>A	uc001hvl.2	-	19	3775	c.3540C>T	c.(3538-3540)ttC>ttT	p.F1180F	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.	1180						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)				AGAGTCTTTCGAACCACATTA	0.323000														11			30		0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136610419	136610419	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136610419G>A	uc002tuw.3	-	11	1769	c.1693C>T	c.(1693-1695)Cgt>Tgt	p.R565C		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	565					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GAATAGACACGATCAATTGAT	0.368000														51			23		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249310	20249310	+	Missense_Mutation	SNP	C	T	T	rs3968186		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20249310C>T	uc010tku.2	+	0	829	c.829C>T	c.(829-831)Cat>Tat	p.H277Y		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTCTGTGTTTCATACTGTAAT	0.388000														80			32		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16032807	16032807	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:16032807G>A	uc010lsu.3	-	2	224	c.160C>T	c.(160-162)Cct>Tct	p.P54S	MSR1_uc003wwz.3_Missense_Mutation_p.P36S|MSR1_uc003wxa.3_Missense_Mutation_p.P36S|MSR1_uc003wxb.3_Missense_Mutation_p.P36S|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	36					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTGTTTTTAGGATCTAATAAA	0.388000														56			11		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40114687	40114687	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:40114687G>A	uc001rmc.3	+	12	1760	c.1593G>A	c.(1591-1593)agG>agA	p.R531R	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	531										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						ATGTAGAAAGGATGGCAAAAC	0.318000														78			25		0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50220961	50220961	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:50220961C>T	uc003cyj.3	+	11	1395	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	SEMA3F_uc003cyk.3_Silent_p.P368P	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	399	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		AGTGGATGCCCTTCTCAGGGA	0.592000														69			31		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572088	76572088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:76572088C>T	uc002fex.1	+	17	3219	c.3080C>T	c.(3079-3081)tCc>tTc	p.S1027F	CNTNAP4_uc002feu.1_Missense_Mutation_p.S1023F|CNTNAP4_uc002fev.1_Missense_Mutation_p.S888F|CNTNAP4_uc010chb.1_Missense_Mutation_p.S951F	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1024					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGTAAAAACTCCAGCTCCCAC	0.333000														46			10		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064557	7064557	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7064557G>A	uc001mfb.1	+	3	1623	c.1300G>A	c.(1300-1302)Gga>Aga	p.G434R		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	434	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CGCTGCCAAAGGAATATGGAC	0.428000														137			57		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121880150	121880150	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:121880150G>A	uc001uat.3	-	18	3198	c.3094C>T	c.(3094-3096)Ccg>Tcg	p.P1032S	KDM2B_uc010szy.2_Missense_Mutation_p.P472S|KDM2B_uc001uaq.3_Missense_Mutation_p.P472S|KDM2B_uc001uar.3_Missense_Mutation_p.P623S|KDM2B_uc001uas.3_Missense_Mutation_p.P963S|KDM2B_uc021rfd.1_Missense_Mutation_p.P963S|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.P1032S|KDM2B_uc001uao.3_Missense_Mutation_p.P280S|KDM2B_uc010szx.2_Missense_Mutation_p.P280S|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	1032	Pro-rich.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CACTTGGGCGGGGACACGGAG	0.721000														11			3		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34125657	34125657	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:34125657G>A	uc011kap.2	+	13	2072	c.1698G>A	c.(1696-1698)tgG>tgA	p.W566*		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	566	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TCAAATCCTGGGAGTTTCAGA	0.502000														56			22		0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	6	46214590	46214590	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46214590G>A	uc003oyc.2	-	3	619	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F	RCAN2_uc003oyb.2_Missense_Mutation_p.L110F|RCAN2_uc003oyd.2_Missense_Mutation_p.L156F	NM_001251974	NP_001238903	Q14206	RCAN2_HUMAN	Homo sapiens regulator of calcineurin 2 (RCAN2), transcript variant 2, mRNA.	110					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GGCGAGATGAGAAACTGTTTG	0.522000														55			13		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726506	63726506	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:63726506C>T	uc003tsx.3	+	4	764	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TCAAAGTCTTCGGCAAATTTT	0.328000														22			8		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409275	105409275	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105409275G>A	uc010axc.1	-	6	12633	c.12513C>T	c.(12511-12513)tcC>tcT	p.S4171S	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.S4071S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4171						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCCTGCATGGAGGGGAGGC	0.632000														251			106		0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	817443	817443	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:817443C>T	uc002cjw.2	+	14	1704	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	MSLN_uc002cju.1_Silent_p.F523F|MSLN_uc002cjt.1_Silent_p.F523F|MSLN_uc010brd.1_Silent_p.F522F|MSLN_uc002cjy.1_Silent_p.F188F|MIR662_uc021tac.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	531					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TGGCCACGTTCATGAAGCTGC	0.697000														83			32		0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170627575	170627575	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:170627575C>T	uc003qxp.3	+	1	1205	c.1097C>T	c.(1096-1098)cCc>cTc	p.P366L	FAM120B_uc003qxo.1_Missense_Mutation_p.P366L|FAM120B_uc011ehd.2_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	366					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CGAGAAGTTCCCGTGTATACA	0.527000														146			78		0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116633707	116633707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:116633707G>A	uc001ppn.3	-	3	632	c.598C>T	c.(598-600)Cct>Tct	p.P200S	BUD13_uc001ppo.3_Missense_Mutation_p.P200S|BUD13_uc009yzc.3_Missense_Mutation_p.P200S	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	200	Arg-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GGGGGAGAAGGATCTGGAGAA	0.567000														127			45		0	0	1	0	0
AX747991	0	broad.mit.edu	37	19	12799973	12799973	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12799973G>A	uc002mul.1	+	0	359	c.231G>A	c.(229-231)aaG>aaA	p.K77K	FBXW9_uc010xmp.2_Non-coding_Transcript|FBXW9_uc002mum.1_3'UTR|FBXW9_uc010dyx.2_3'UTR					Homo sapiens cDNA FLJ35888 fis, clone TESTI2009136.																		GGTCCCCCAAGAACAGAGGAG	0.657000														18			11		0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6882289	6882289	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:6882289C>T	uc002knc.3	+	10	4499	c.1288C>T	c.(1288-1290)Cta>Tta	p.L430L	ARHGAP28_uc002kne.3_Silent_p.L323L|ARHGAP28_uc010wzi.2_Silent_p.L305L|ARHGAP28_uc002knf.3_Silent_p.L314L	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	305					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CTTCATCAGTCTAATGGAAAG	0.403000														57			19		0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98728846	98728846	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:98728846A>G	uc010mry.1	+	12	2177	c.1089A>G	c.(1087-1089)caA>caG	p.Q363Q	ERCC6L2_uc004avt.4_Silent_p.Q661Q|ERCC6L2_uc011lum.2_Silent_p.Q363Q|ERCC6L2_uc010mrz.3_Silent_p.Q472Q|ERCC6L2_uc004avu.3_5'UTR			Q5T890	RAD26_HUMAN	Homo sapiens chromosome 9 open reading frame 102 (C9orf102), mRNA.	661					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										TGTTTTAGCAACTTCACTGTG	0.393000														62			19		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10384494	10384494	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10384494C>T	uc003bvt.3	-	18	3298	c.2859G>A	c.(2857-2859)aaG>aaA	p.K953K	ATP2B2_uc003bvv.3_Silent_p.K908K|ATP2B2_uc003bvw.3_Silent_p.K908K|ATP2B2_uc010hdo.3_Silent_p.K658K	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	953					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCAGGATGTTCTTCATCATGG	0.632000														53			6		0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118203949	118203949	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:118203949C>T	uc001lcl.4	+	3	481	c.380C>T	c.(379-381)tCa>tTa	p.S127L		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	127					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		ATCAACGGTTCACGGGAATAC	0.333000														69			43		0	0	1	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80182511	80182511	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:80182511G>A	uc001syz.3	-	20	2986	c.2719C>T	c.(2719-2721)Cgc>Tgc	p.R907C	PPP1R12A_uc010suc.2_Missense_Mutation_p.R820C|PPP1R12A_uc001sza.3_Missense_Mutation_p.R851C|PPP1R12A_uc010sud.2_Missense_Mutation_p.R907C|PPP1R12A_uc001szb.3_Missense_Mutation_p.R907C|PPP1R12A_uc001syy.3_Non-coding_Transcript	NM_002480	NP_001137358	O14974	MYPT1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12A (PPP1R12A), transcript variant 1, mRNA.	907						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GATCCAGAGCGACCCAGCAAG	0.353000														23			7		0	0	1	0	0
ANTXR2	118429	broad.mit.edu	37	4	80899252	80899252	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:80899252G>A	uc003hlz.4	-	14	2019	c.1256C>T	c.(1255-1257)cCt>cTt	p.P419L	ANTXR2_uc003hly.4_Missense_Mutation_p.P419L|ANTXR2_uc003hlx.1_Non-coding_Transcript|ANTXR2_uc010ijn.3_Missense_Mutation_p.P316L	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN	Homo sapiens anthrax toxin receptor 2 (ANTXR2), transcript variant 2, mRNA.	419						endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						TGTTTCTTCAGGAATCTTCAC	0.483000									Juvenile Hyaline Fibromatosis					60			26		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52521021	52521021	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:52521021G>A	uc001wzo.3	-	3	1020	c.786C>T	c.(784-786)atC>atT	p.I262I	NID2_uc010tqs.2_Silent_p.I262I|NID2_uc010tqt.1_Silent_p.I262I|NID2_uc001wzp.3_Silent_p.I262I	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	262	NIDO.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACACTCCAGGGATCCCCAGGT	0.483000														42			8		0	0	1	0	0
IGLL3P	91353	broad.mit.edu	37	22	25715948	25715948	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25715948G>A	uc021wnj.1	+	2		c.430G>A								Homo sapiens immunoglobulin lambda-like polypeptide 3, pseudogene (IGLL3P), non-coding RNA.											cervix(1)|lung(4)|skin(1)|stomach(3)	9						GCAGCTACCTGAGCCTGACGC	0.607000														104			13		0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90255328	90255328	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90255328C>T	uc002boj.3	+	4	734	c.633C>T	c.(631-633)ctC>ctT	p.L211L	WDR93_uc010bnr.3_Silent_p.L211L	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	211					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CAGCCTTCCTCCTACAAGGCA	0.388000														43			22		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113533736	113533736	+	Missense_Mutation	SNP	G	A	A	rs140847408		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:113533736G>A	uc003iau.3	-	6	2822	c.2611C>T	c.(2611-2613)Cca>Tca	p.P871S	C4orf21_uc003iaw.3_Missense_Mutation_p.P871S	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	871										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTAATAAATGGTTTCCTCACT	0.284000														55			8		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626236	140626236	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140626236G>A	uc003lje.3	+	0	1090	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	364	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCAGAGACAGAAGTGGCCCT	0.423000														99			25		0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144732203	144732203	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144732203C>T	uc003yzd.2	+	0	250	c.161C>T	c.(160-162)cCc>cTc	p.P54L	ZNF623_uc011lkp.1_Missense_Mutation_p.P14L|ZNF623_uc003yzc.2_Missense_Mutation_p.P14L	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GTCCACGAGCCCAGATTAGGG	0.567000														56			20		0	0	1	0	0
TESC	54997	broad.mit.edu	37	12	117486949	117486949	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117486949C>T	uc001twh.3	-	3	388	c.224G>A	c.(223-225)gGa>gAa	p.G75E	TESC_uc001twi.3_Non-coding_Transcript|TESC_uc021rem.1_Missense_Mutation_p.G48E	NM_017899	NP_060369	Q96BS2	TESC_HUMAN	Homo sapiens tescalcin (TESC), transcript variant 1, mRNA.	75					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		GCCACTGGGTCCCTTGCGCAG	0.537000														71			17		0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053750	95053750	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:95053750C>T	uc001ydm.2	+	2	261	c.51C>T	c.(49-51)gcC>gcT	p.A17A	SERPINA5_uc010ave.2_Silent_p.A17A|SERPINA5_uc001ydn.1_Silent_p.A17A	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	17					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTCAGGGGGCCTCCCTTCACC	0.592000														92			39		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182412572	182412572	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:182412572C>T	uc002unx.3	-	9	1315	c.1214G>A	c.(1213-1215)aGg>aAg	p.R405K	CERKL_uc010frk.3_Intron|CERKL_uc002uny.3_Missense_Mutation_p.R379K|CERKL_uc010zfm.2_Missense_Mutation_p.R361K|CERKL_uc002unz.3_Missense_Mutation_p.R127K|CERKL_uc002uoa.3_Missense_Mutation_p.R310K|CERKL_uc002uob.3_Missense_Mutation_p.R127K|CERKL_uc002uoc.3_Missense_Mutation_p.R266K|CERKL_uc021vth.1_Missense_Mutation_p.R174K|CERKL_uc021vti.1_Missense_Mutation_p.R127K|CERKL_uc021vtj.1_Missense_Mutation_p.R82K|CERKL_uc021vtk.1_Missense_Mutation_p.R127K|CERKL_uc021vtl.1_Missense_Mutation_p.R82K|CERKL_uc021vtm.1_Missense_Mutation_p.R174K|CERKL_uc002uod.2_Missense_Mutation_p.R174K|CERKL_uc002uoe.3_3'UTR|CERKL_uc002unw.3_5'UTR	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	405					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity	p.R405M(1)|p.R379M(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCCCTGTGCCCTCCTAAAAGA	0.393000														129			62		0	0	1	0	0
RPL5	6125	broad.mit.edu	37	1	93301949	93301949	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:93301949G>A	uc001doz.3	+	5	605	c.527_splice	c.e5+1	p.S176_splice	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Splice_Site|RPL5_uc001dpb.3_Splice_Site_p.S126_splice|RPL5_uc001dpd.3_Splice_Site|SNORD21_uc001dpe.2_5'Flank|SNORA66_uc021opt.1_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	176				S -> R (in Ref. 9).	endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		ATCCCTCACAGGTAAGAATAC	0.453000														54			21		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10363550	10363550	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10363550C>T	uc002gmn.3	-	12	1347	c.1236G>A	c.(1234-1236)gaG>gaA	p.E412E	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	412	Myosin head-like.				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						TGGTTACGAACTCATTGCCGA	0.438000														54			46		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74011530	74011530	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74011530C>T	uc010wss.1	-	15	2183	c.1955_splice	c.e15+1	p.K652_splice	EVPL_uc002jqi.2_Splice_Site_p.K630_splice|EVPL_uc010wst.1_Splice_Site_p.K100_splice	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	630	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGAGCACTCACTTCTCCCCGT	0.667000														82			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063345	9063345	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9063345G>A	uc002mkp.3	-	2	24305	c.24101C>T	c.(24100-24102)tCa>tTa	p.S8034L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8036	Ser-rich.|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						TATTTCAACTGAGGTGCTGCT	0.468000														86			38		0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30688494	30688494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:30688494C>T	uc010csz.3	+	6	915	c.568C>T	c.(568-570)Cat>Tat	p.H190Y	ZNF207_uc002hhj.4_Missense_Mutation_p.H187Y|ZNF207_uc002hhh.4_Intron|ZNF207_uc002hhi.4_Missense_Mutation_p.H187Y|ZNF207_uc002hhk.1_Missense_Mutation_p.H187Y|ZNF207_uc002hhl.1_Non-coding_Transcript			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	184						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CAGATTGCATCATCAGAGAAA	0.313000														25			20		0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56127839	56127840	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56127839_56127840GG>AA	uc010rjh.2	+	0	149_150	c.117_118GG>AA	c.(115-120)atggca>atAAca	p.39_40MA>IT		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T38T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GGCTGACCATGGCAGGGAACCT	0.495000														117			47		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179486595	179486595	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179486595C>T	uc021vsy.1	-	192	37575	c.37350G>A	c.(37348-37350)gcG>gcA	p.A12450A	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.A6145A|TTN_uc021vta.1_Silent_p.A6078A|TTN_uc021vtb.1_Silent_p.A5953A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13377							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)			CAGAAGTTCTCGCTGTCCTTA	0.378000														35			19		0	0	1	0	0
NR0B2	8431	broad.mit.edu	37	1	27238395	27238395	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27238395G>A	uc001bnf.3	-	1	851	c.715C>T	c.(715-717)Cct>Tct	p.P239S	BC016143_uc021ojq.1_Intron	NM_021969	NP_068804	Q15466	NR0B2_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA.	239					cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity	p.R238H(1)		NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CCAATGATAGGGCGAAAGAAG	0.612000														116			30		0	0	1	0	0
SLC23A1	9963	broad.mit.edu	37	5	138707942	138707942	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:138707942C>T	uc003leg.3	-	14	1659	c.1562_splice	c.e14-1	p.G521_splice	SLC23A1_uc003leh.3_Splice_Site_p.G517_splice	NM_152685	NP_689898	Q9UHI7	S23A1_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 1 (SLC23A1), transcript variant 2, mRNA.	517					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	L-ascorbate:sodium symporter activity|dehydroascorbic acid transporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CTCTGGGCTCCCTGGAAGAGG	0.537000														41			19		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	122018775	122018775	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:122018775G>A	uc001uat.3	-	0	146	c.42C>T	c.(40-42)ccC>ccT	p.P14P	KDM2B_uc001uas.3_5'Flank|KDM2B_uc021rfd.1_5'Flank|KDM2B_uc001uau.3_5'UTR|KDM2B_uc021rfe.1_Silent_p.P14P|KDM2B_uc001uav.4_Silent_p.P14P	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	14					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTTTTCGTGGGGGGTGATCCT	0.483000														135			38		0	0	1	0	0
CHGA	1113	broad.mit.edu	37	14	93398965	93398965	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:93398965G>A	uc001ybc.4	+	6	1319	c.1059G>A	c.(1057-1059)acG>acA	p.T353T	CHGA_uc001ybd.4_Silent_p.T202T	NM_001275	NP_001266	P10645	CMGA_HUMAN	Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA.	353					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AGGAGCTGACGGCTGAGAAGC	0.657000														8			4		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121391559	121391559	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121391559G>A	uc001pxx.3	+	9	1533	c.1404_splice	c.e9+1	p.E468_splice		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	468					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAATTGTGAGGTATTGATGCT	0.398000														24			11		0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67399174	67399174	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67399174G>A	uc001omp.3	-	7	1148	c.1060C>T	c.(1060-1062)Cgg>Tgg	p.R354W	NUDT8_uc001omn.3_5'Flank|NUDT8_uc001omo.2_5'Flank	NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	354					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						CTATCAGCCCGGATGTTGGGG	0.652000														17			3		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204955233	204955233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204955233C>T	uc010prc.2	+	21	3012	c.1483C>T	c.(1483-1485)Ccg>Tcg	p.P495S	NFASC_uc001hbj.3_Intron|NFASC_uc010pra.2_Missense_Mutation_p.P924S|NFASC_uc001hbi.3_Missense_Mutation_p.P924S|NFASC_uc010prb.2_Missense_Mutation_p.P939S|NFASC_uc001hbk.1_Missense_Mutation_p.P734S|NFASC_uc001hbl.2_Intron|NFASC_uc001hbm.2_5'Flank|NFASC_uc001hbn.1_5'Flank			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	928	Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTTCACCACCCCGGAAGGAGG	0.602000														30			9		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364116	5364116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5364116G>A	uc001map.1	-	0	639	c.639C>T	c.(637-639)ttC>ttT	p.F213F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.F213F	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATAGGAGATGAAGATAATCA	0.468000														83			38		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776193	77776193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:77776193G>A	uc003yau.2	+	10	10630	c.10243G>A	c.(10243-10245)Gaa>Aaa	p.E3415K		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3366						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)			GTTTACTGATGAAGACGCCGC	0.418000										HNSCC(33;0.089)				20			3		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38897326	38897326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38897326G>A	uc021yzh.1	+	74	11267	c.11158G>A	c.(11158-11160)Gag>Aag	p.E3720K	DNAH8_uc003ooe.2_Missense_Mutation_p.E3503K|DNAH8_uc003oog.1_5'UTR|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACACACTTGGAGGACAGCCT	0.408000														152			68		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250110	140250110	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140250110C>T	uc003lia.2	+	0	2280	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	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_uc011dae.2_Silent_p.F474F	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	489	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S473A(1)|p.S473F(1)		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)			GCCACATCTTCACAGTGTCGG	0.662000														139			58		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169337945	169337945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169337945G>A	uc021xuh.1	-	18	2724	c.2614C>T	c.(2614-2616)Cat>Tat	p.H872Y	DDX60L_uc003irq.4_Missense_Mutation_p.H872Y|DDX60L_uc003irr.1_Missense_Mutation_p.H872Y|DDX60L_uc003irs.1_Missense_Mutation_p.H567Y	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	872	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CCAAGATAATGGACCTAGTAA	0.328000														57			14		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981739	7981739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7981739G>A	uc001mfv.1	-	1	1437	c.1420C>T	c.(1420-1422)Cat>Tat	p.H474Y		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	474	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACATGGCATGAAAAAAGTCC	0.532000														124			13		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26446395	26446395	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:26446395C>T	uc001isn.2	+	25	3310	c.2950C>T	c.(2950-2952)Cga>Tga	p.R984*	MYO3A_uc009xko.1_Nonsense_Mutation_p.R984*|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	984	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R984*(6)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCAAGAATTCGAAGACTAGG	0.363000														101			39		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19560691	19560691	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:19560691C>T	uc002wrl.3	+	3	593	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	132						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGACTTCTTCGTCCCTTCCT	0.502000														77			48		0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594887	41594887	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41594887C>T	uc002opt.3	+	1	243	c.234C>T	c.(232-234)gtC>gtT	p.V78V		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	78					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	p.V78D(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CCCGGCGGGTCGTGGTGCTGT	0.637000														82			26		0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1755118	1755118	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:1755118G>A	uc009zdq.3	+	4	1022	c.780G>A	c.(778-780)aaG>aaA	p.K260K	WNT5B_uc001qjj.3_Silent_p.K260K|WNT5B_uc001qjk.3_Silent_p.K260K|WNT5B_uc001qjl.3_Silent_p.K260K	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	260					Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TCACCCGCAAGGGCCGGCTGG	0.682000														32			17		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15795653	15795653	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15795653G>A	uc002nbl.3	+	7	1065	c.946G>A	c.(946-948)Gag>Aag	p.E316K		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ATTGTCAGATGAGGATATAAG	0.493000														80			18		0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113920566	113920566	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:113920566G>A	uc009xxy.2	-	15	1765	c.1555C>T	c.(1555-1557)Cgt>Tgt	p.R519C	GPAM_uc001kzp.3_Missense_Mutation_p.R519C|GPAM_uc001kzq.1_Missense_Mutation_p.R519C	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	519					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TCAAAATCACGAGCCAGGACT	0.443000														37			8		0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76797772	76797772	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:76797772C>T	uc003hix.3	-	10	1345	c.988G>A	c.(988-990)Gag>Aag	p.E330K	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.E330K	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	330	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTTCTCTTCTCCTCCATCTGC	0.517000														64			18		0	0	1	0	0
TFPI2	7980	broad.mit.edu	37	7	93516176	93516176	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:93516176G>A	uc003umy.1	-	4	739	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_3'UTR|TFPI2_uc003una.1_Missense_Mutation_p.R211C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	222					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	p.R222C(2)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTGGCAAAGCGAAGCTTTGGC	0.328000														121			48		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167993	140167993	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140167993G>A	uc003lhb.2	+	0	2118	c.2118G>A	c.(2116-2118)gcG>gcA	p.A706A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.A706A	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	714					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)			CCATCTGCGCGGTGTCCAGCC	0.682000														76			35		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929324	4929324	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4929324C>T	uc010qyq.2	+	0	725	c.725C>T	c.(724-726)tCc>tTc	p.S242F		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S242S(1)		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)		ACCTGTGTCTCCCACATCTGT	0.468000														166			71		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186544548	186544548	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:186544548C>T	uc003iyg.3	-	12	2397	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.E775K|SORBS2_uc003iyl.3_Missense_Mutation_p.E675K|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.E579K|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	675						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGGCTCTTTCGTGTTTTAAC	0.542000														162			23		0	0	1	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59899274	59899274	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:59899274G>A	uc003jsh.3	-	8	1259	c.1186C>T	c.(1186-1188)Cct>Tct	p.P396S	DEPDC1B_uc011cqm.2_Missense_Mutation_p.P396S|DEPDC1B_uc011cqn.2_Missense_Mutation_p.P369S	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	Homo sapiens DEP domain containing 1B (DEPDC1B), transcript variant 1, mRNA.	396					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.P396S(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				AAGGCCAAAGGGACTTTCAGA	0.418000														67			26		0	0	1	0	0
RAX	30062	broad.mit.edu	37	18	56939814	56939814	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:56939814C>T	uc002lhx.3	-	1	509	c.322G>A	c.(322-324)Gag>Aag	p.E108K	RAX_uc010dpp.3_Intron	NM_013435	NP_038463	Q9Y2V3	RX_HUMAN	Homo sapiens retina and anterior neural fold homeobox (RAX), mRNA.	108					visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E108K(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GGCCGTGCCTCCCCGGGCTCC	0.701000														57			17		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20996624	20996624	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20996624G>A	uc010vbe.2	-	47	7440	c.7440C>T	c.(7438-7440)gtC>gtT	p.V2480V	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2480	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGCCACACCGACCTGCAGTA	0.493000														20			28		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830562	7830562	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7830562G>A	uc010dvt.3	+	3	371	c.253G>A	c.(253-255)Gag>Aag	p.E85K	CLEC4M_uc010xjv.1_Missense_Mutation_p.E57K|CLEC4M_uc002mhy.2_Missense_Mutation_p.E29K|CLEC4M_uc002mih.3_Missense_Mutation_p.E85K|CLEC4M_uc010xjw.2_Missense_Mutation_p.E64K|CLEC4M_uc010dvs.3_Missense_Mutation_p.E84K|CLEC4M_uc010xjx.2_Missense_Mutation_p.E57K|CLEC4M_uc002mhz.3_Missense_Mutation_p.E85K|CLEC4M_uc002mic.3_Missense_Mutation_p.E57K|CLEC4M_uc002mia.3_Missense_Mutation_p.E64K	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	85					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GGAACAATCCGAGCAAGACGC	0.512000														100			37		0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160239672	160239672	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:160239672G>A	uc003qsy.1	+	15	1282	c.1243G>A	c.(1243-1245)Ggg>Agg	p.G415R	PNLDC1_uc003qsx.1_Missense_Mutation_p.G404R	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	404						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CATCCGAGCGGGGGTCCCAAA	0.572000														36			6		0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38144728	38144728	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:38144728C>T	uc001uwo.4	-	18	2376	c.2258G>A	c.(2257-2259)cGa>cAa	p.R753Q	POSTN_uc010tet.2_Missense_Mutation_p.R254Q|POSTN_uc001uwp.4_Missense_Mutation_p.R696Q|POSTN_uc001uwr.3_Missense_Mutation_p.R726Q|POSTN_uc001uwq.3_Missense_Mutation_p.R696Q|POSTN_uc010teu.1_Missense_Mutation_p.R726Q|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	753					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.R753R(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGTAATGATTCGTTCTTCTCG	0.318000														88			17		0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13279769	13279769	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:13279769G>A	uc010gce.1	+	5	1064	c.1058G>A	c.(1057-1059)gGg>gAg	p.G353E	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	353	AMOP.					extracellular region		p.S352S(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GACGCCAGCGGGCCCAAGGAG	0.652000														27			4		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124594501	124594501	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124594501C>T	uc001lgs.3	-	8	2054	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	CUZD1_uc001lgp.3_Missense_Mutation_p.G87E|CUZD1_uc009yad.3_Missense_Mutation_p.G87E|CUZD1_uc009yaf.3_Missense_Mutation_p.G2E|CUZD1_uc001lgr.3_Missense_Mutation_p.G87E|CUZD1_uc010qty.2_Missense_Mutation_p.G87E|CUZD1_uc009yae.3_Missense_Mutation_p.G87E|CUZD1_uc010qtz.2_Missense_Mutation_p.G368E	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	368	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AGAATTATGTCCCATTTCACA	0.358000														70			19		0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182781010	182781010	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:182781010C>T	uc002uoi.3	+	10	2965	c.2643C>T	c.(2641-2643)ttC>ttT	p.F881F	SSFA2_uc002uoh.3_Silent_p.F881F|SSFA2_uc002uoj.3_Silent_p.F881F|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Silent_p.F728F|SSFA2_uc002uol.3_Silent_p.F728F|SSFA2_uc002uom.3_Silent_p.F349F	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	881						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GTAGTGCCTTCGCTTCCCCTT	0.517000														103			11		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46755035	46755035	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:46755035C>T	uc002eei.4	-	9	2101	c.1985_splice	c.e9+1	p.R662_splice	MYLK3_uc010vge.2_Splice_Site_p.R321_splice	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	662	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ACCCCCTTACCTTCTGGCCAG	0.448000														136			15		0	0	1	0	0
LDHD	197257	broad.mit.edu	37	16	75146541	75146541	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:75146541C>T	uc002fdm.3	-	9	1369	c.1317G>A	c.(1315-1317)gaG>gaA	p.E439E	LDHD_uc002fdn.3_Silent_p.E416E	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	Homo sapiens lactate dehydrogenase D (LDHD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	439							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						TGCCCAGTTCCTCGGCGTCAT	0.607000														36			16		0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49228277	49228277	+	Silent	SNP	G	A	A	rs143841455		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49228277G>A	uc001rsm.3	-	11	1477	c.1386C>T	c.(1384-1386)atC>atT	p.I462I		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	462	Helicase ATP-binding.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTGACTCTTCGATCCTGTGGT	0.527000														53			34		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123345767	123345767	+	Silent	SNP	C	T	T	rs141649592	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:123345767C>T	uc003ego.3	-	30	5418	c.5136G>A	c.(5134-5136)caG>caA	p.Q1712Q	MYLK-AS1_uc003egk.3_Intron|MYLK_uc010hrr.3_Silent_p.Q147Q|MYLK_uc011bjv.2_Silent_p.Q512Q|MYLK_uc011bjw.2_Silent_p.Q1712Q|MYLK_uc003egp.3_Silent_p.Q1643Q|MYLK_uc003egq.3_Silent_p.Q1661Q|MYLK_uc003egr.3_Silent_p.Q1592Q|MYLK_uc003egs.3_Silent_p.Q1536Q	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1712	Calmodulin-binding.|Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCTGAAGGCACTGCGTGCAGT	0.507000														63			11		0	0	1	0	0
NAA35	60560	broad.mit.edu	37	9	88611379	88611379	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:88611379C>T	uc004aoi.4	+	11	1080	c.943C>T	c.(943-945)Cga>Tga	p.R315*	NAA35_uc004aoj.4_Nonsense_Mutation_p.R315*	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	315					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		p.R315L(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TACCTTCCCTCGATATGCAAA	0.313000														67			9		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61844389	61844389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61844389C>T	uc001jky.3	-	31	4383	c.4045G>A	c.(4045-4047)Gag>Aag	p.E1349K	ANK3_uc001jkw.3_Missense_Mutation_p.E483K|ANK3_uc009xpa.3_Missense_Mutation_p.E483K|ANK3_uc001jkx.3_Missense_Mutation_p.E527K|ANK3_uc010qih.2_Missense_Mutation_p.E1350K|ANK3_uc001jkz.4_Missense_Mutation_p.E1343K|ANK3_uc001jla.1_Missense_Mutation_p.E415K|ANK3_uc001jlb.1_Missense_Mutation_p.E867K|ANK3_uc001jkv.3_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1349					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						GCGACTTCCTCAAAATTCTCT	0.363000														128			46		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73746301	73746301	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73746301G>A	uc002jpg.3	+	27	3613	c.3426G>A	c.(3424-3426)aaG>aaA	p.K1142K	ITGB4_uc002jph.3_Silent_p.K1142K|ITGB4_uc002jpi.4_Silent_p.K1142K|ITGB4_uc002jpj.3_Silent_p.K1142K	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1142	Fibronectin type-III 1.				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	p.K1142N(2)		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)			GGTCCAGGAAGATCCATTTCA	0.637000											OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			12		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066017	23066017	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:23066017G>T	uc002wsv.3	-	0	961	c.813C>A	c.(811-813)tgC>tgA	p.C271*		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	271	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGTCCTGGTGGCAGCCCCCAT	0.627000														114			39		5.43694e-19	5.46562e-19	1	1	0
MAN2A1	4124	broad.mit.edu	37	5	109124642	109124642	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:109124642C>T	uc003kou.1	+	10	2731	c.1768C>T	c.(1768-1770)Cat>Tat	p.H590Y		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	590					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CAGACTTTTTCATTCGTTAAT	0.303000														66			17		0	0	1	0	0
OR56A5	390084	broad.mit.edu	37	11	5988832	5988832	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5988832C>T	uc010qzu.2	-	0	893	c.893G>A	c.(892-894)aGa>aAa	p.R298K		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	298						integral to membrane|plasma membrane	olfactory receptor activity										CTCCTTGGTTCTCACACCATA	0.463000														23			5		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170685	113170685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113170685G>A	uc010mtz.3	-	37	7532	c.7195C>T	c.(7195-7197)Cat>Tat	p.H2399Y	SVEP1_uc010mty.3_Missense_Mutation_p.H325Y	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2399	Sushi 17.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTTCCAAAATGAAGAGCAGAA	0.458000														26			9		0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94527347	94527347	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94527347G>A	uc001ycj.3	-	3	1408	c.1309C>T	c.(1309-1311)Cgt>Tgt	p.R437C	DDX24_uc010twq.2_Missense_Mutation_p.R394C|DDX24_uc010twr.2_Missense_Mutation_p.R187C	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	437	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		ATCTCAGGACGACGGTTCAGC	0.443000														117			50		0	0	1	0	0
AKR1C4	1109	broad.mit.edu	37	10	5258737	5258737	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:5258737C>T	uc001ihw.2	+	7	943	c.910C>T	c.(910-912)Cga>Tga	p.R304*		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	304					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	CAGAAATTATCGATATGTTGT	0.343000														15			6		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3293298	3293298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3293298G>A	uc002cun.1	-	9	2229	c.2189C>T	c.(2188-2190)tCc>tTc	p.S730F	MEFV_uc021tbw.1_3'UTR|MEFV_uc021tbx.1_Missense_Mutation_p.S310F|MEFV_uc021tby.1_Missense_Mutation_p.S233F|MEFV_uc021tbz.1_Missense_Mutation_p.S149F|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_3'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	730	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	ATTGTAAAAGGAGATGCTTCC	0.542000														106			24		0	0	1	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41430259	41430259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41430259G>A	uc010ehg.1	+	0	90	c.82G>A	c.(82-84)Ggc>Agc	p.G28S	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Missense_Mutation_p.G28S|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TAACTCCCATGGCACCCTCCC	0.587000														72			27		0	0	1	0	0
HRASLS2	54979	broad.mit.edu	37	11	63320447	63320447	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63320447C>T	uc001nxg.1	-	3	537	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K		NM_017878	NP_060348	Q9NWW9	HRSL2_HUMAN	Homo sapiens HRAS-like suppressor 2 (HRASLS2), mRNA.	160					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						TATTGCCTTTCCCGCTTGCTT	0.512000														57			14		0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879200	209879200	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:209879200G>A	uc001hhj.3	+	2	265	c.133G>A	c.(133-135)Ggg>Agg	p.G45R	HSD11B1_uc021pin.1_Missense_Mutation_p.G45R|HSD11B1_uc001hhk.3_Missense_Mutation_p.G45R	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	45					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GGCCAGCAAAGGGATCGGAAG	0.502000														69			34		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111195317	111195317	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:111195317G>A	uc004epl.1	-	1	1251	c.332C>T	c.(331-333)gCt>gTt	p.A111V	TRPC5_uc004epm.1_Missense_Mutation_p.A111V	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	111					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.A111S(1)|p.G110G(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAGCTCCACAGCGCCCACCAC	0.542000														74			17		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141059162	141059162	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:141059162G>A	uc003llm.3	-	3	726	c.648C>T	c.(646-648)gcC>gcT	p.A216A	ARAP3_uc003lln.3_Silent_p.A138A|ARAP3_uc003llo.1_Silent_p.A216A	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	216					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTCTGTCGGGGGCTCCTGGAG	0.572000														61			15		0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129702	1129702	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1129702G>A	uc021taf.1	+	1	905	c.834G>A	c.(832-834)caG>caA	p.Q278Q	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.Q278Q	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	278					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CGCTGCCCCAGGAGCCCGCCT	0.622000														63			15		0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475583	5475583	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5475583C>T	uc010qzf.2	+	0	946	c.865C>T	c.(865-867)Cct>Tct	p.P289S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGCTCAACCCTCTCATTTA	0.463000														148			48		0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48587373	48587373	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48587373G>A	uc003ctv.3	-	2	252	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	PFKFB4_uc003ctx.3_Missense_Mutation_p.R36C|PFKFB4_uc010hkb.3_Missense_Mutation_p.R79C|PFKFB4_uc003ctw.3_5'UTR|PFKFB4_uc010hkc.3_Missense_Mutation_p.R79C|PFKFB4_uc011bbm.2_Missense_Mutation_p.R68C|PFKFB4_uc011bbn.1_Non-coding_Transcript	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	79	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACGTCCCGGCGATACTGGCCA	0.502000														59			25		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11738216	11738216	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11738216G>A	uc002gne.3	+	49	9575	c.9507_splice	c.e49+1	p.K3169_splice	DNAH9_uc010coo.3_Splice_Site_p.K2463_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3169	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTGAACAAGGTAGGAGGACT	0.562000														7			6		0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39281897	39281897	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:39281897G>A	uc002rrk.4	-	4	619	c.578C>T	c.(577-579)cCt>cTt	p.P193L	SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrl.3_5'Flank	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	193					Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TGAGGTGGAAGGCTCTTCGTC	0.279000									Noonan syndrome					137			44		0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14854482	14854482	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:14854482G>A	uc002mzp.1	-	18	2754	c.2298C>T	c.(2296-2298)atC>atT	p.I766I	EMR2_uc010dzs.1_Silent_p.I225I|EMR2_uc010xnw.1_Silent_p.I708I|EMR2_uc002mzo.1_Silent_p.I755I|EMR2_uc002mzq.1_Silent_p.I706I|EMR2_uc002mzr.1_Silent_p.I717I|EMR2_uc002mzs.1_Silent_p.I624I|EMR2_uc002mzt.1_Silent_p.I662I|EMR2_uc002mzu.1_Silent_p.I673I|EMR2_uc010xnx.1_Non-coding_Transcript	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	766					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GCAGGCTGTTGATGATGGTGA	0.607000														127			58		0	0	1	0	0
CIB4	130106	broad.mit.edu	37	2	26863423	26863423	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:26863423G>A	uc002rhm.3	-	1	96	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L		NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN	Homo sapiens calcium and integrin binding family member 4 (CIB4), mRNA.	23							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCTGGTCAGGAAGGTCAGG	0.567000														145			32		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024773	76024773	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:76024773C>T	uc010kbe.3	-	5	1314	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	FILIP1_uc003phy.1_Missense_Mutation_p.E259K|FILIP1_uc003phz.3_Missense_Mutation_p.E160K|FILIP1_uc003pia.3_Missense_Mutation_p.E259K|FILIP1_uc003pib.1_Missense_Mutation_p.E11K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	259										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCAAGTTGTTCAATGTGCATT	0.398000														105			58		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599462	31599462	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31599462C>T	uc003nvb.4	+	15	3261	c.3012C>T	c.(3010-3012)tcC>tcT	p.S1004S	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Silent_p.S1004S	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1004	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.L1003I(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GAAATCTTTCCCCTGCCCCAA	0.592000														18			10		0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49107064	49107064	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49107064G>A	uc002pjn.2	-	3	928	c.863C>T	c.(862-864)tCc>tTc	p.S288F	SPACA4_uc002pjo.3_5'Flank	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	288										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	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;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GAGCGGGCAGGAGGCCGCGTA	0.701000														31			13		0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18112930	18112930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:18112930G>A	uc021veh.1	+	0	655	c.655G>A	c.(655-657)Gat>Aat	p.D219N	KCNS3_uc002rcv.3_Missense_Mutation_p.D219N|KCNS3_uc002rcw.3_Missense_Mutation_p.D219N	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	219					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGAAGTGGATGATCCGGTGCT	0.572000														78			19		0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1616936	1616936	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:1616936C>T	uc002wfm.1	-	2	711	c.646G>A	c.(646-648)Gac>Aac	p.D216N	SIRPG_uc002wfn.1_Missense_Mutation_p.D216N|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	216	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TCCCAGGGGTCCAGTACCACC	0.597000														86			34		0	0	1	0	0
RAD9A	5883	broad.mit.edu	37	11	67161231	67161231	+	Missense_Mutation	SNP	C	T	T	rs144155838	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67161231C>T	uc001okr.3	+	4	512	c.419C>T	c.(418-420)tCg>tTg	p.S140L	RAD9A_uc021qmg.1_Missense_Mutation_p.S64L	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	Homo sapiens RAD9 homolog A (S. pombe) (RAD9A), transcript variant 1, mRNA.	140					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|SH3 domain binding|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GACCCAGCCTCGTGCCCCCAC	0.657000								Other conserved DNA damage response genes						14			7		0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149274851	149274851	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149274851G>A	uc003lrg.4	-	12	1743	c.1623C>T	c.(1621-1623)gcC>gcT	p.A541A	PDE6A_uc021yfs.1_Silent_p.A460A	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	541					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.A541D(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACCGCACCAGGGCCTGTGAAC	0.542000														67			23		0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997813	46997813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46997813C>T	uc002pes.2	-	0	1357	c.910G>A	c.(910-912)Gag>Aag	p.E304K	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_5'UTR	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	304										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ACCGGCTCCTCGTCCGGGGTG	0.582000														112			13		0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157041160	157041160	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:157041160C>T	uc010lqs.3	+	18	2892	c.2580C>T	c.(2578-2580)gcC>gcT	p.A860A	UBE3C_uc003wni.4_Silent_p.A223A	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	860	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACCACCTCGCCTCCCTAGACC	0.512000														173			21		0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69472489	69472489	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:69472489C>T	uc002sfg.3	+	17	1923	c.1567C>T	c.(1567-1569)Ccc>Tcc	p.P523S		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	523	Pro-rich.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ccactgccctcccccgccccc	0.701000									Familial Infantile Hemangioma					7			4		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454440	84454440	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:84454440G>A	uc001vlk.3	-	0	2089	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	401						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCAACAGAATGAGGTTCTTGT	0.438000														267			92		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659731	121659731	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121659731C>T	uc003eep.2	+	21	2220	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F	SLC15A2_uc011bjn.1_Silent_p.F658F	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	689					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GCCTGATCTTCTCCATCATGG	0.458000														77			34		0	0	1	0	0
CH25H	9023	broad.mit.edu	37	10	90966983	90966983	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:90966983G>A	uc001kfz.3	-	0	89	c.67C>T	c.(67-69)Ctc>Ttc	p.L23F		NM_003956	NP_003947	O95992	CH25H_HUMAN	Homo sapiens cholesterol 25-hydroxylase (CH25H), mRNA.	23					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		TGGTCCCAGAGGGGCTGCAGG	0.627000														6			6		0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147803583	147803583	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:147803583C>T	uc003lpf.1	+	12	1761	c.1641C>T	c.(1639-1641)atC>atT	p.I547I	FBXO38_uc003lpg.1_Silent_p.I547I|FBXO38_uc003lph.2_Silent_p.I547I	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	547						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAAGACATCGTCCAAGAAG	0.433000														61			18		0	0	1	0	0
C2orf51	200523	broad.mit.edu	37	2	88825180	88825180	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:88825180C>T	uc002stb.2	+	1	160	c.18C>T	c.(16-18)taC>taT	p.Y6Y		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	Homo sapiens chromosome 2 open reading frame 51 (C2orf51), mRNA.	6						nucleus				large_intestine(2)|lung(11)|prostate(1)|skin(1)	15						GTGTGAAATACCCGGGACAGG	0.547000														155			59		0	0	1	0	0
PSPN	5623	broad.mit.edu	37	19	6375600	6375600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6375600C>T	uc010xja.2	-	1	176	c.176G>A	c.(175-177)cGc>cAc	p.R59H		NM_004158	NP_004149	O60542	PSPN_HUMAN	Homo sapiens persephin (PSPN), mRNA.	59					axon guidance|central nervous system development		growth factor activity			lung(1)|ovary(1)|skin(1)	3						CAGGGCTCGGCGCAGGCGGGC	0.662000														11			5		0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27736193	27736193	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27736193G>A	uc001bof.2	-	7	1557	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	WASF2_uc010ofl.2_Intron	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	Homo sapiens WAS protein family, member 2 (WASF2), transcript variant 1, mRNA.	444	WH2.				G-protein signaling, coupled to cAMP nucleotide second messenger|actin cytoskeleton organization	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TACCTTGACGGATGGCTGAAA	0.572000														78			20		0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48713043	48713043	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:48713043G>A	uc001crn.2	+	14	2001	c.1949G>A	c.(1948-1950)tGg>tAg	p.W650*	SLC5A9_uc001cro.2_Nonsense_Mutation_p.W625*|SLC5A9_uc010omt.1_Nonsense_Mutation_p.W639*|SLC5A9_uc001crp.2_Nonsense_Mutation_p.W292*|SLC5A9_uc010omu.1_Nonsense_Mutation_p.W292*|SLC5A9_uc009vyt.1_Non-coding_Transcript	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	625						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTCTGGAGCTGGTTCTGTGGG	0.577000														29			14		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922862	24922862	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24922862G>A	uc001ywo.3	+	0	2322	c.1848G>A	c.(1846-1848)aaG>aaA	p.K616K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	616					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)		ACCCGGGAAAGACATCAGTCT	0.458000														75			39		0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110901148	110901148	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:110901148G>A	uc002tfn.4	-	15	1759	c.1665C>T	c.(1663-1665)tcC>tcT	p.S555S	NPHP1_uc002tfm.4_Silent_p.S500S|NPHP1_uc002tfl.4_Silent_p.S556S|NPHP1_uc002tfo.4_Silent_p.S437S|NPHP1_uc010ywx.2_Silent_p.S499S|NPHP1_uc010fjv.1_Silent_p.S499S	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	555					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTCTGTTCAAGGATCTCAGTT	0.413000														100			7		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19428817	19428817	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19428817G>A	uc010tcj.1	-	0		c.17293C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ctgaccttgtgatccgcccac	0.493000														17			13		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50713817	50713817	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50713817C>T	uc010enu.1	+	1	242	c.195C>T	c.(193-195)ttC>ttT	p.F65F	MYH14_uc002prq.1_Silent_p.F65F|MYH14_uc002prr.1_Silent_p.F65F	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	65	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TTCACGGGTTCGAGGCGGCGG	0.761000														6			4		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201190778	201190778	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201190778G>A	uc001gwc.3	+	18	10235	c.10105G>A	c.(10105-10107)Gga>Aga	p.G3369R	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						GCTTCGGCCTGGAGAGGGCTA	0.607000														32			14		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057846	152057846	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152057846G>A	uc001ezo.1	-	2	2377	c.2312C>T	c.(2311-2313)tCt>tTt	p.S771F		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	771							calcium ion binding	p.S771Y(2)		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)			GGGGACTGAAGAATTGTGCTC	0.493000														124			26		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21860965	21860965	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21860965G>A	uc001war.2	-	32	6537	c.6472C>T	c.(6472-6474)Cgt>Tgt	p.R2158C	CHD8_uc001was.2_Missense_Mutation_p.R1879C|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	2158					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATCAGGACACGATCCTGAATG	0.463000														151			12		0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105258925	105258925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:105258925G>A	uc003dvx.3	+	6	1533	c.837G>A	c.(835-837)gaG>gaA	p.E279E	ALCAM_uc003dvw.2_Silent_p.E279E|ALCAM_uc003dvy.3_Silent_p.E279E|ALCAM_uc011bhh.1_Silent_p.E228E|ALCAM_uc010hpp.3_Intron	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	279	Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CTCCCCCAGAGGAATTTTTGT	0.393000														188			20		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221126	140221126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140221126C>T	uc003lhs.2	+	0	220	c.220C>T	c.(220-222)Ctt>Ttt	p.L74F	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_uc003lhr.1_Missense_Mutation_p.L74F	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	89	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACCGGGACCTTCTGGAGGT	0.642000														220			24		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656327	12656327	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:12656327G>A	uc002gno.2	+	9	2021	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	MYOCD_uc002gnn.2_Silent_p.E574E|MYOCD_uc002gnp.1_Silent_p.E478E|MYOCD_uc002gnq.2_Silent_p.E293E	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	574					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGCAGGAAGAGGCTGTCTCCA	0.532000														25			28		0	0	1	0	0
VOPP1	81552	broad.mit.edu	37	7	55565375	55565375	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55565375G>A	uc003tqs.3	-	2	305	c.122C>T	c.(121-123)tCc>tTc	p.S41F	VOPP1_uc003tqq.3_Missense_Mutation_p.S32F|VOPP1_uc010kzh.3_Missense_Mutation_p.S38F|VOPP1_uc010kzi.3_Missense_Mutation_p.S24F|VOPP1_uc011kcr.2_5'UTR	NM_030796	NP_110423	Q96AW1	VOPP1_HUMAN	Homo sapiens vesicular, overexpressed in cancer, prosurvival protein 1 (VOPP1), mRNA.	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						GTCCTCGTAGGAGCGGCATCT	0.592000														51			25		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835376	38835376	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38835376C>T	uc003ciq.3	-	0	126	c.126G>A	c.(124-126)agG>agA	p.R42R		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	42					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCTTCTGCTCCCTATGCTTCT	0.522000														143			57		0	0	1	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60028961	60028961	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:60028961C>T	uc002lin.3	+	6	703	c.665C>T	c.(664-666)tCt>tTt	p.S222F	TNFRSF11A_uc010dpv.3_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	222					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	p.A221T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CTCTTCGCGTCTGTGGCCCTG	0.408000														232			93		0	0	1	0	0
ACER3	55331	broad.mit.edu	37	11	76709843	76709843	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:76709843C>T	uc009yum.1	+	6	579	c.475C>T	c.(475-477)Cga>Tga	p.R159*	ACER3_uc010rsg.1_Nonsense_Mutation_p.R117*|ACER3_uc009yul.1_Non-coding_Transcript|ACER3_uc001oxu.2_Non-coding_Transcript|ACER3_uc009yun.1_Nonsense_Mutation_p.R117*|ACER3_uc009yuo.1_Nonsense_Mutation_p.R64*|ACER3_uc010rsh.1_Nonsense_Mutation_p.R122*|ACER3_uc010rsi.1_Nonsense_Mutation_p.R64*|ACER3_uc010rsj.1_Nonsense_Mutation_p.R64*	NM_018367	NP_060837	Q9NUN7	ACER3_HUMAN	Homo sapiens alkaline ceramidase 3 (ACER3), mRNA.	159					ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to Golgi membrane|integral to endoplasmic reticulum membrane	phytoceramidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						ATTAGTACTTCGATCTATTTA	0.323000														34			9		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124846820	124846820	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124846820G>A	uc021rga.1	-	21	3066	c.2949C>T	c.(2947-2949)ccC>ccT	p.P983P	NCOR2_uc021rgb.1_Silent_p.P967P|NCOR2_uc010tbb.2_Silent_p.P984P|NCOR2_uc010tbc.2_Silent_p.P966P|NCOR2_uc021rgc.1_Silent_p.P966P|NCOR2_uc010tba.2_Silent_p.P984P|NCOR2_uc001ugj.1_Silent_p.P984P	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	984					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTCCCGGGGGGGCTCATGGA	0.647000														11			6		0	0	1	0	0
NKX6-1	4825	broad.mit.edu	37	4	85419214	85419214	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:85419214G>A	uc003hpa.1	-	0	174	c.168C>T	c.(166-168)tcC>tcT	p.S56S		NM_006168	NP_006159	P78426	NKX61_HUMAN	Homo sapiens NK6 homeobox 1 (NKX6-1), mRNA.	56	Poly-Ser.				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		gcgacgaggaggacgacgacg	0.746000														4			4		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476877	110476877	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110476877G>A	uc003yne.3	+	48	7920	c.7816G>A	c.(7816-7818)Gtt>Att	p.V2606I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2606					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TCAAAAAAGAGTTCCCCTTGG	0.438000										HNSCC(38;0.096)				95			13		0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84778340	84778340	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84778340C>T	uc010voe.2	+	4	516	c.265C>T	c.(265-267)Cct>Tct	p.P89S	USP10_uc002fii.3_Missense_Mutation_p.P85S|USP10_uc010vof.2_Intron|USP10_uc002fij.3_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	85	Interaction with p53/TP53.				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						CACACTGAACCCTCAGGCCCC	0.463000														58			36		0	0	1	0	0
SIX3	6496	broad.mit.edu	37	2	45169955	45169955	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:45169955G>A	uc002run.2	+	0	919	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K		NM_005413	NP_005404	O95343	SIX3_HUMAN	Homo sapiens SIX homeobox 3 (SIX3), mRNA.	238					visual perception	nucleus		p.R237R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAAGAAACGCGAACTGGCGCA	0.637000														69			14		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156629387	156629387	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:156629387G>A	uc003iov.3	+	6	854	c.318_splice	c.e6-1	p.R106_splice	GUCY1A3_uc003iou.2_Splice_Site_p.R106_splice|GUCY1A3_uc010iqc.2_Splice_Site_p.R106_splice|GUCY1A3_uc010iqd.3_Splice_Site_p.R106_splice|GUCY1A3_uc003iow.3_Splice_Site_p.R106_splice|GUCY1A3_uc003iox.3_Splice_Site_p.R106_splice|GUCY1A3_uc010iqe.3_Splice_Site|GUCY1A3_uc003ioy.3_Splice_Site_p.R106_splice|GUCY1A3_uc003ioz.3_Splice_Site|GUCY1A3_uc003ipa.3_Splice_Site|GUCY1A3_uc003ipb.3_Splice_Site_p.R106_splice	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	106					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AATATTTCCAGGAAATCTTTG	0.264000														47			27		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28968384	28968384	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28968384G>A	uc002kwr.2	+	3	406	c.271G>A	c.(271-273)Ggg>Agg	p.G91R	DSG4_uc002kwq.2_Missense_Mutation_p.G91R	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	91	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCTGGAGTAGGGATTGATCG	0.403000														63			17		0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224345107	224345107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:224345107C>T	uc001hoh.2	+	4	807	c.766C>T	c.(766-768)Cct>Tct	p.P256S	FBXO28_uc009xef.2_3'UTR|FBXO28_uc010pvc.1_Missense_Mutation_p.P51S	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	Homo sapiens F-box protein 28 (FBXO28), transcript variant 1, mRNA.	256										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		CAAGCAAAATCCTTCAAGACA	0.458000														140			26		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528825	157528825	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:157528825C>T	uc003qqp.3	+	18	6511	c.6511C>T	c.(6511-6513)Ccc>Tcc	p.P2171S	ARID1B_uc003qqo.3_Missense_Mutation_p.P2184S|ARID1B_uc003qqn.3_Missense_Mutation_p.P2224S	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	2171					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.P2168fs*6(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCACATGCAGCCCCCGCCCCT	0.557000														52			35		0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217124264	217124264	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:217124264C>T	uc002vgb.3	-	3	2771	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	335						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TGAGGAGGTCCGGGGGTTGGT	0.617000														30			10		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35157400	35157400	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:35157400G>A	uc003teq.1	-	15	1774	c.667C>T	c.(667-669)Cgt>Tgt	p.R223C	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		GAAATATCACGAACAGTCTGT	0.264000														24			24		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153897566	153897566	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:153897566C>T	uc003inf.2	+	10	3198	c.3123C>T	c.(3121-3123)gcC>gcT	p.A1041A		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	1041					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ACACAGTGGCCTCCTCCTCTC	0.637000														93			35		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256431	140256431	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140256431C>T	uc003lic.2	+	0	1501	c.1374C>T	c.(1372-1374)ccC>ccT	p.P458P	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_Silent_p.P458P	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	472	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)			TCGCGCAGCCCGAGTACACAG	0.657000														152			31		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21709108	21709108	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21709108C>T	uc002djh.3	+	8	753	c.752C>T	c.(751-753)tCa>tTa	p.S251L	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.S172L	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	251					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GACTCTGCTTCATGGGTCAGT	0.353000														88			28		0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163138964	163138964	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:163138964G>A	uc002uce.3	-	5	1440	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	406	Helicase ATP-binding.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TAATATCACAGGACTTGACAA	0.373000														71			33		0	0	1	0	0
SLC25A40	55972	broad.mit.edu	37	7	87466116	87466116	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87466116G>A	uc003uje.3	-	10	1208	c.833C>T	c.(832-834)cCt>cTt	p.P278L		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	Homo sapiens solute carrier family 25, member 40 (SLC25A40), nuclear gene encoding mitochondrial protein, mRNA.	278					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					CATATGCAAAGGCATAGAAAC	0.299000														47			27		0	0	1	0	0
SLC16A13	201232	broad.mit.edu	37	17	6940077	6940077	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:6940077C>T	uc002geh.3	+	1	539	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	77						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GCACGAAGTTCGGGCCCAGGC	0.632000														112			15		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356406	40356406	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:40356406G>A	uc003gva.1	+	4	1325	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	437					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	p.D437E(3)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GTGCCTCAAAGACCACAAGGC	0.483000														111			12		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17483289	17483289	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17483289G>A	uc001mnc.3	-	4	789	c.663C>T	c.(661-663)ttC>ttT	p.F221F	ABCC8_uc010rcy.1_Silent_p.F221F	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	221					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCAGATTCACGAAGGGCTGCA	0.582000														93			34		0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75347872	75347872	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:75347872G>A	uc002sng.2	-	1	997	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F	TACR1_uc002snh.3_Missense_Mutation_p.L138F	NM_001058	NP_001049	P25103	NK1R_HUMAN	Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA.	138					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CGGGGCTGGAGGGGATGTATG	0.517000														45			17		0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23729755	23729755	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:23729755C>T	uc002wtp.3	-	1	311	c.240G>A	c.(238-240)ggG>ggA	p.G80G		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	80						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					AGTAATTCACCCCCCCAACGG	0.557000														185			34		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125831637	125831637	+	Silent	SNP	G	A	A	rs139545472		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:125831637G>A	uc003eim.1	-	18	2359	c.2169C>T	c.(2167-2169)ttC>ttT	p.F723F	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.F622F|ALDH1L1_uc003ein.1_Silent_p.F258F	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	723	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTCTCCGCACGAACTCATCAT	0.572000														98			26		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16895700	16895700	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16895700G>A	uc009vos.1	-	22	3370	c.2482C>T	c.(2482-2484)Ccc>Tcc	p.P828S	NBPF1_uc009vot.1_Missense_Mutation_p.P286S|NBPF1_uc001ayz.1_Missense_Mutation_p.P286S|NBPF1_uc010oce.1_Missense_Mutation_p.P557S	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	828	NBPF 4.					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)		GACTCCTGGGGGACTTCCTCC	0.478000														368			28		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183713541	183713541	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:183713541C>T	uc003ivd.1	+	24	5791	c.5716C>T	c.(5716-5718)Cga>Tga	p.R1906*		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1906					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GCAGACCATCCGATCCATTGG	0.542000														53			22		0	0	1	0	0
NOG	9241	broad.mit.edu	37	17	54672217	54672217	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:54672217G>A	uc002iup.2	+	0	1158	c.633G>A	c.(631-633)ggG>ggA	p.G211G		NM_005450	NP_005441	Q13253	NOGG_HUMAN	Homo sapiens noggin (NOG), mRNA.	211					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of BMP signaling pathway|negative regulation of astrocyte differentiation|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity			ovary(1)	1	Breast(9;5.24e-08)					AGCGGCGCGGGGGCCAGCGCT	0.672000														12			3		0	0	1	0	0
PRAMEF8	391002	broad.mit.edu	37	1	12979793	12979793	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12979793G>T	uc001aup.3	+	3	1068	c.985G>T	c.(985-987)Gtc>Ttc	p.V329F		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	329												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGAGGGGTGTCACGCTGAC	0.572000														128			14		1.49906e-05	1.50155e-05	1	1	0
PAXIP1	22976	broad.mit.edu	37	7	154738116	154738116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:154738116G>A	uc022aqg.1	-	19	3196	c.3153C>T	c.(3151-3153)ttC>ttT	p.F1051F	LOC100132707_uc011kvr.2_Non-coding_Transcript|LOC100132707_uc003wlo.3_Non-coding_Transcript|PAXIP1_uc022aqf.1_Silent_p.F1051F|PAXIP1_uc022aqh.1_Silent_p.F1017F|PAXIP1_uc022aqi.1_Silent_p.F1015F	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	Homo sapiens PAX interacting (with transcription-activation domain) protein 1 (PAXIP1), mRNA.	1051	BRCT 6.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CAGTCAGAACGAACTCTGCAT	0.433000														131			68		0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153279637	153279637	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153279637C>T	uc001fbn.1	-	1	215	c.162G>A	c.(160-162)ggG>ggA	p.G54G		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	54					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCACTGCATCCCTGGGAGCT	0.632000														10			5		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427392	119427393	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:119427392_119427393GG>AA	uc001ehl.1	-	7	1768_1769	c.1453_1454CC>TT	c.(1453-1455)cca>TTa	p.P485L	TBX15_uc009whj.1_Missense_Mutation_p.P309L	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	591						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P485L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGAGGAGCCTGGAACTGCCCCA	0.559000														88			28		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209823449	209823449	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:209823449G>A	uc001hhg.3	-	1	433	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	LAMB3_uc009xco.3_Silent_p.L15L|LAMB3_uc001hhh.3_Silent_p.L15L|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Silent_p.L15L	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	15					cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGGGCATGCAGGAGGCCAGGC	0.577000														15			9		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94707034	94707034	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94707034C>T	uc001ycs.1	+	8	1032	c.878C>T	c.(877-879)cCc>cTc	p.P293L		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	293						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ACTATACTTCCCTTAGTGAAA	0.308000														33			10		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15349239	15349239	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15349239G>C	uc002nar.3	-	19	4260	c.4038C>G	c.(4036-4038)gaC>gaG	p.D1346E		NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	1346					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGAAATTCATGTCAATGGTAG	0.468000			T	C15orf55	lethal midline carcinoma of young people									88			24		0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48713025	48713025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:48713025G>A	uc001crn.2	+	14	1983	c.1931G>A	c.(1930-1932)gGa>gAa	p.G644E	SLC5A9_uc001cro.2_Missense_Mutation_p.G619E|SLC5A9_uc010omt.1_Missense_Mutation_p.G633E|SLC5A9_uc001crp.2_Missense_Mutation_p.G286E|SLC5A9_uc010omu.1_Missense_Mutation_p.G286E|SLC5A9_uc009vyt.1_Non-coding_Transcript	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	619						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						AGGTCCTGGGGAAAGTTGCTC	0.557000														26			9		0	0	1	0	0
BCL2L10	10017	broad.mit.edu	37	15	52404827	52404827	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:52404827C>T	uc002abq.3	-	0	146	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K		NM_020396	NP_065129	Q9HD36	B2L10_HUMAN	Homo sapiens BCL2-like 10 (apoptosis facilitator) (BCL2L10), mRNA.	23					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		GTGCCGGGTTCCCGGGCGCAG	0.716000														5			3		0	0	1	0	0
TFCP2	7024	broad.mit.edu	37	12	51512411	51512411	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51512411G>A	uc001rxw.3	-	1	988	c.267C>T	c.(265-267)ctC>ctT	p.L89L	TFCP2_uc001rxv.2_Silent_p.L89L|TFCP2_uc009zlx.2_Silent_p.L89L|TFCP2_uc009zly.1_5'UTR	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.	89					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AACCTTGATTGAGATACGTTA	0.393000														114			11		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33572868	33572868	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33572868G>A	uc002xbi.2	+	13	1185	c.868_splice	c.e13-1	p.G290_splice		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	248	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCTGCCCACAGGGCAAGTTCA	0.662000														92			27		0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48331680	48331680	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:48331680G>A	uc010dpa.3	-	3	464	c.315C>T	c.(313-315)ctC>ctT	p.L105L	MRO_uc010xdn.2_Silent_p.L91L|MRO_uc002lew.4_Silent_p.L91L|MRO_uc010dpb.3_Silent_p.L105L|MRO_uc010dpc.3_Silent_p.L91L|MRO_uc002lex.4_Silent_p.L91L	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	91						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CCAGCAGGTCGAGGACAATTT	0.463000														91			15		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682301	69682301	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69682301C>T	uc003hee.3	+	0	589	c.564C>T	c.(562-564)ttC>ttT	p.F188F	UGT2B10_uc011cam.2_Intron	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	188					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GATTTATTTTCCCTCCTTCCT	0.398000														120			35		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102057327	102057327	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:102057327G>A	uc001kqx.1	-	4	1151	c.768C>T	c.(766-768)ttC>ttT	p.F256F	PKD2L1_uc009xwm.1_Silent_p.F209F	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	256					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	p.G255fs*64(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCCAGTGGGAGAAGCCCCCCA	0.592000														40			8		0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44278350	44278350	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44278350G>A	uc002oxl.3	-	2	1073	c.677C>T	c.(676-678)gCc>gTc	p.A226V		NM_002250	NP_002241	O15554	KCNN4_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA.	226					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	TCACCTCTCGGCCACGGACAG	0.677000											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			6		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122854194	122854194	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:122854194G>A	uc003ieg.2	-	1	293	c.219C>T	c.(217-219)tcC>tcT	p.S73S	TRPC3_uc010inr.2_5'UTR|TRPC3_uc003ief.2_5'UTR|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	0					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTCCCTCCATGGACCTAATCA	0.547000														46			6		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28501425	28501425	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:28501425G>A	uc001zbj.3	-	17	2662	c.2556C>T	c.(2554-2556)ttC>ttT	p.F852F	HERC2_uc001zbl.1_Silent_p.F547F	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	852					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTAAACCAAGGAATTCCGGGT	0.517000														12			9		0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124627180	124627180	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124627180C>T	uc003ehq.2	-	10	1389	c.1350G>A	c.(1348-1350)acG>acA	p.T450T		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	450						extracellular region|integral to membrane|plasma membrane		p.T450T(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CAATATGCTTCGTTTTGTTAT	0.343000														34			16		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10429970	10429970	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10429970C>T	uc003bvt.3	-	5	1337	c.898G>A	c.(898-900)Gac>Aac	p.D300N	ATP2B2_uc003bvv.3_Missense_Mutation_p.D300N|ATP2B2_uc003bvw.3_Missense_Mutation_p.D300N|ATP2B2_uc010hdp.2_Missense_Mutation_p.D300N|ATP2B2_uc010hdo.3_Missense_Mutation_p.D36N	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	300					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCTTTTTTGTCTTTCTTCTCT	0.458000														232			31		0	0	1	0	0
TMEM173	340061	broad.mit.edu	37	5	138855874	138855874	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:138855874G>A	uc003lep.3	-	7	1414	c.1112C>T	c.(1111-1113)cCc>cTc	p.P371L		NM_198282	NP_938023	Q86WV6	TM173_HUMAN	Homo sapiens transmembrane protein 173 (TMEM173), nuclear gene encoding mitochondrial protein, mRNA.	371					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAGAGGGAGGGGCTTTTCCAT	0.592000														6			3		0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3016271	3016271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3016271C>T	uc010zqd.2	+	19	2311	c.1994C>T	c.(1993-1995)tCc>tTc	p.S665F	PTPRA_uc002whj.3_Missense_Mutation_p.S654F|PTPRA_uc002whk.3_Missense_Mutation_p.S645F|PTPRA_uc002whl.3_Missense_Mutation_p.S645F|PTPRA_uc002whm.3_Missense_Mutation_p.S421F|PTPRA_uc002whn.3_Missense_Mutation_p.S645F|PTPRA_uc002who.3_Missense_Mutation_p.S317F	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	654	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGACTGGTGTCCTATGGAGAT	0.532000														28			11		0	0	1	0	0
FBLIM1	54751	broad.mit.edu	37	1	16091552	16091552	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16091552C>T	uc001axd.1	+	3	517	c.74C>T	c.(73-75)gCc>gTc	p.A25V	FBLIM1_uc001axe.1_Missense_Mutation_p.A25V|FBLIM1_uc001axg.1_Missense_Mutation_p.A25V|FBLIM1_uc001axh.1_Missense_Mutation_p.A25V|FBLIM1_uc001axi.1_Missense_Mutation_p.A25V	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	25	Filamin-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			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)		CGCGATGTGGCCGTGGCGGAG	0.672000														86			47		0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72307659	72307659	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:72307659C>T	uc010rrc.2	-	5	713	c.467G>A	c.(466-468)gGg>gAg	p.G156E	PDE2A_uc001oso.3_Missense_Mutation_p.G135E|PDE2A_uc010rra.2_Missense_Mutation_p.G149E|PDE2A_uc001osn.3_Intron|PDE2A_uc010rrb.2_Missense_Mutation_p.G147E|PDE2A_uc010rrd.2_Intron	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	156					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TGCCACGGCCCCAGCCTCCTT	0.647000														25			9		0	0	1	0	0
NTF3	4908	broad.mit.edu	37	12	5603722	5603722	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:5603722C>T	uc001qnl.4	+	0	425	c.342C>T	c.(340-342)ccC>ccT	p.P114P	NTF3_uc001qnk.4_Silent_p.P127P	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	114					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CCTTGGAGCCCCCGCCCTTGT	0.612000														71			21		0	0	1	0	0
RASSF4	83937	broad.mit.edu	37	10	45478097	45478097	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:45478097G>A	uc001jbp.3	+	2	1909	c.360G>A	c.(358-360)cgG>cgA	p.R120R	RASSF4_uc001jbo.3_Silent_p.R89R|RASSF4_uc009xmn.3_Silent_p.R19R|RASSF4_uc001jbq.3_Missense_Mutation_p.G17D|RASSF4_uc001jbt.3_Silent_p.R19R			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	89					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCCCAGACGGCCTAGCTGCC	0.652000														29			7		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43400228	43400228	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43400228C>T	uc003ouy.1	+	2	725	c.510C>T	c.(508-510)gcC>gcT	p.A170A	ABCC10_uc003ouz.1_Silent_p.A127A	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	170						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGCCCATGGCCCGCCTATGCT	0.652000														80			42		0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48245758	48245758	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48245758G>A	uc002iqi.3	+	4	445	c.409G>A	c.(409-411)Gag>Aag	p.E137K	SGCA_uc010wmh.1_Missense_Mutation_p.E35K|SGCA_uc002iqj.3_Missense_Mutation_p.E137K|SGCA_uc010wmi.2_Non-coding_Transcript	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	137			E -> G (in LGMD2D; associated with P-G-A- Q-P-136 ins; dbSNP:rs28933694).|E -> K (in LGMD2D).		muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						ATACCAAGCCGAGTTCCTGGT	0.677000														8			3		0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93142930	93142930	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:93142930C>T	uc001yap.3	+	7	2598	c.2446C>T	c.(2446-2448)Ccc>Tcc	p.P816S	RIN3_uc010auk.3_Missense_Mutation_p.P478S|RIN3_uc001yaq.3_Missense_Mutation_p.P741S|RIN3_uc001yas.1_Missense_Mutation_p.P478S	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	816	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCTCATGGACCCCGCCCTGCA	0.622000														52			12		0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110763690	110763690	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:110763690G>A	uc003vft.4	+	3	1908	c.862G>A	c.(862-864)Gag>Aag	p.E288K	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.E288K|LRRN3_uc003vfs.4_Missense_Mutation_p.E288K|LRRN3_uc022akc.1_Missense_Mutation_p.E288K	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	288						integral to membrane		p.E288E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACACTTAAAAGAGTTGGGGAT	0.333000														85			38		0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81205386	81205386	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81205386C>T	uc001szj.1	-	4	753	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	187	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TGGGGTGTATCGCACCACCAG	0.483000														67			6		0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	375943	375943	+	Missense_Mutation	SNP	C	T	T	rs141910884		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:375943C>T	uc002lol.3	-	0	71	c.28G>A	c.(28-30)Ggg>Agg	p.G10R	THEG_uc002lom.3_Missense_Mutation_p.G10R	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	10					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGCTGGTTCCCGAGTGACCTT	0.692000														62			12		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777406	43777406	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:43777406C>T	uc010skx.2	-	30	4752	c.4752G>A	c.(4750-4752)agG>agA	p.R1584R		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1584	TSP type-1 13.					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)		AAGGAGGGTTCCTGCAATTCT	0.378000														29			7		0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4217164	4217164	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4217164C>T	uc010dtt.1	+	17	2283	c.2007C>T	c.(2005-2007)acC>acT	p.T669T	ANKRD24_uc002lzs.2_Silent_p.T640T|ANKRD24_uc002lzt.2_Silent_p.T641T	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	669										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TCACAGGGACCACAAACATGG	0.617000														12			5		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075309	106075309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106075309G>A	uc001kyf.3	-	2	954	c.501C>T	c.(499-501)ttC>ttT	p.F167F	ITPRIP_uc001kye.3_Silent_p.F167F|ITPRIP_uc001kyg.3_Silent_p.F167F|ITPRIP_uc021pxv.1_Silent_p.F167F	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	167						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						AGTCATCCACGAAGCCTTCCA	0.622000														76			32		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059983	152059983	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152059983G>A	uc001ezo.1	-	2	240	c.175C>T	c.(175-177)Ctt>Ttt	p.L59F		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	59	EF-hand.						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)			ATATTCAGAAGATTTGAATTT	0.363000														48			32		0	0	1	0	0
CNTFR	1271	broad.mit.edu	37	9	34564810	34564810	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:34564810C>T	uc003zup.2	-	3	400	c.106G>A	c.(106-108)Gag>Aag	p.E36K	CNTFR_uc003zuq.2_Missense_Mutation_p.E36K|CNTFR_uc022bgg.1_Missense_Mutation_p.E36K	NM_147164	NP_671693	P26992	CNTFR_HUMAN	Homo sapiens ciliary neurotrophic factor receptor (CNTFR), transcript variant 1, mRNA.	36	Ig-like C2-type.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		CCCAGGCGCTCGTACTGCACA	0.652000														37			15		0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15487565	15487565	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:15487565G>A	uc003nbj.3	+	5	942	c.698G>A	c.(697-699)cGg>cAg	p.R233Q	JARID2_uc011diu.1_Missense_Mutation_p.R97Q|JARID2_uc011div.2_Missense_Mutation_p.R61Q|JARID2_uc011diw.1_Missense_Mutation_p.R195Q	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	233					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGGTCAACACGGGAGAAGGAA	0.493000														40			15		0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4323544	4323544	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4323544C>T	uc002lzy.2	+	12	1548	c.1395C>T	c.(1393-1395)agC>agT	p.S465S	FSD1_uc002maa.2_Silent_p.S278S	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	465	B30.2/SPRY.				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)		GGTGTGGCAGCTTCCAGGTGA	0.682000														20			12		0	0	1	0	0
C1GALT1	56913	broad.mit.edu	37	7	7283191	7283191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:7283191C>T	uc003srb.2	+	3	1148	c.925C>T	c.(925-927)Cac>Tac	p.H309Y	C1GALT1_uc003sra.3_Missense_Mutation_p.H309Y	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	Homo sapiens core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 (C1GALT1), mRNA.	309					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AGTTTCTTTTCACTATGTTGA	0.358000														160			34		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19428056	19428056	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:19428056G>A	uc001bbi.3	-	87	12985	c.12981C>T	c.(12979-12981)acC>acT	p.T4327T	UBR4_uc010ocv.2_5'Flank|UBR4_uc009vph.3_5'Flank|UBR4_uc010ocw.2_Silent_p.T18T|UBR4_uc001bbg.3_Silent_p.T38T|UBR4_uc001bbh.3_Silent_p.T36T	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4327					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGAACACCGGGGTCCGGTAGT	0.537000														120			27		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66189691	66189691	+	Silent	SNP	G	A	A	rs147825645	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66189691G>A	uc001ohx.1	+	1	452	c.276G>A	c.(274-276)ggG>ggA	p.G92G	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	92	PAS 1.				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						CAGCCGAGGGGAAATTGCTCT	0.602000														80			29		0	0	1	0	0
C16orf71	146562	broad.mit.edu	37	16	4797517	4797517	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:4797517G>A	uc002cxn.3	+	8	1916	c.1454G>A	c.(1453-1455)gGg>gAg	p.G485E		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	485										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGTGCCAAGGGGCAGAGCGCC	0.672000														34			11		0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130286073	130286073	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130286073G>A	uc004brh.3	-	4	676	c.474C>T	c.(472-474)ttC>ttT	p.F158F	FAM129B_uc004bri.3_Silent_p.F145F|FAM129B_uc004brj.4_Silent_p.F158F	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	158	PH.						protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGATGAGCGGGAACTGTGTGG	0.602000											OREG0019507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			20		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055504	75055504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75055504C>T	uc001dgg.3	-	11	2206	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E457K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	663	Glu-rich.									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						TCAAAGCTTTCGTCTATTGGC	0.408000														108			26		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124988179	124988179	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:124988179G>A	uc003yqw.3	+	8	931	c.725G>A	c.(724-726)tGg>tAg	p.W242*		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	242	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAGAGACCGTGGGCCAGATTC	0.443000														121			65		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430251	135430251	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:135430251C>T	uc004ezu.1	+	5	4677	c.4386C>T	c.(4384-4386)ttC>ttT	p.F1462F	GPR112_uc010nsb.1_Silent_p.F1257F|GPR112_uc010nsc.1_Silent_p.F1229F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1462					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CACAGACTTTCCCTGAGTCCT	0.423000														45			69		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139717522	139717522	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:139717522C>T	uc011kqv.2	+	12	1792	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F	TBXAS1_uc003vvh.3_Silent_p.F473F|TBXAS1_uc010lne.3_Silent_p.F405F|TBXAS1_uc003vvi.3_Silent_p.F473F|TBXAS1_uc011kqw.2_Silent_p.F453F|TBXAS1_uc003vvj.3_Intron	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	472					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					ACCTGCCCTTCGGGGCCGGCC	0.682000														73			15		0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41739911	41739911	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:41739911G>A	uc003thq.3	-	0	297	c.62C>T	c.(61-63)tCc>tTc	p.S21F	INHBA-AS1_uc003tht.4_Intron|INHBA_uc003thr.3_Missense_Mutation_p.S21F|INHBA-AS1_uc003ths.2_Intron	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	21					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGGGGTGGGGGAACTCCTCAC	0.567000										TSP Lung(11;0.080)				180			87		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32010369	32010369	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32010369G>A	uc003nzl.2	-	39	12269	c.12067C>T	c.(12067-12069)Ccc>Tcc	p.P4023S	TNXB_uc003nzg.1_Missense_Mutation_p.P454S|TNXB_uc003nzh.1_Missense_Mutation_p.P492S	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	4070	Fibronectin type-III 32.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGGGGAAGGGGATCCGCAGC	0.701000														10			6		0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104376924	104376924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:104376924C>T	uc001tkg.3	+	5	848	c.625C>T	c.(625-627)Cgt>Tgt	p.R209C	TDG_uc009zuk.3_Missense_Mutation_p.R205C|TDG_uc010swi.2_Missense_Mutation_p.R66C|TDG_uc010swj.2_Intron	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	209					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TAAAGAATTTCGTGAAGGAGG	0.249000								Base excision repair (BER), DNA glycosylases						146			39		0	0	1	0	0
FAM70B	348013	broad.mit.edu	37	13	114498180	114498180	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:114498180C>T	uc001vuh.3	+	3	339	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	104						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GCTGCGCCATCGTGGACGGCG	0.527000														37			10		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41161881	41161881	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41161881C>T	uc003jmk.2	-	9	1582	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K	C6_uc003jml.1_Missense_Mutation_p.E458K	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	458	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				CTCCCTTTCTCCCATGCCAAA	0.428000														86			27		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711218	140711218	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140711218G>A	uc003lji.2	+	0	967	c.967G>A	c.(967-969)Gat>Aat	p.D323N	PCDHGC5_uc011dan.2_Missense_Mutation_p.D323N	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	324	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)			TCAAGCCCAGGATGGTGCGGG	0.393000														73			25		0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219249889	219249890	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219249889_219249890GG>AA	uc002vhv.3	+	3	633_634	c.293_294GG>AA	c.(292-294)tgg>tAA	p.W98*	SLC11A1_uc010zkb.1_Nonsense_Mutation_p.W98*|SLC11A1_uc010fvp.1_Nonsense_Mutation_p.W98*|SLC11A1_uc010fvq.1_Nonsense_Mutation_p.W31*|SLC11A1_uc010zkc.1_Nonsense_Mutation_p.W31*|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.3_5'UTR|SLC11A1_uc010fvr.3_5'Flank	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	98					L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGCTGCTCTGGGCCACCGTGT	0.624000														91			9		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18624985	18624985	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:18624985C>T	uc003sui.3	+	1	145	c.104C>T	c.(103-105)cCc>cTc	p.P35L	HDAC9_uc003sue.3_Missense_Mutation_p.P35L|HDAC9_uc011jyd.2_Missense_Mutation_p.P35L|HDAC9_uc003suh.3_Missense_Mutation_p.P35L|HDAC9_uc003suj.3_Missense_Mutation_p.P35L|HDAC9_uc011jya.2_Missense_Mutation_p.P77L|HDAC9_uc003sua.1_Missense_Mutation_p.P54L|HDAC9_uc003sud.2_Missense_Mutation_p.P35L|HDAC9_uc011jyc.2_Missense_Mutation_p.P35L|HDAC9_uc011jyb.2_Missense_Mutation_p.P35L|HDAC9_uc003suf.2_Missense_Mutation_p.P63L|HDAC9_uc010kud.2_Missense_Mutation_p.P35L|HDAC9_uc011jye.2_Missense_Mutation_p.P4L|HDAC9_uc011jyf.2_Missense_Mutation_p.P4L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	35					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.P35P(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATGATGATGCCCGTGGTGGAC	0.478000														119			53		0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60549101	60549102	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:60549101_60549102CT>TC	uc001jki.1	+	6	680_681	c.680_681CT>TC	c.(679-681)tct>tTC	p.S227F		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	227					multicellular organismal development		RNA binding	p.P226H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AATTCCCCCTCTATTCAGCATA	0.401000														98			44		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2963962	2963962	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:2963962G>A	uc003smv.3	-	14	2179	c.1845C>T	c.(1843-1845)tcC>tcT	p.S615S		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	615					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)		AGGAGTGGATGGAGGAGGGTC	0.612000			Mis		DLBCL									59			32		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151094619	151094619	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151094619G>A	uc003eyp.3	+	26	4109	c.3980G>A	c.(3979-3981)tGg>tAg	p.W1327*	MED12L_uc011bnz.2_Nonsense_Mutation_p.W1187*|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Nonsense_Mutation_p.W490*	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1327					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGCAATCCTGGTTAGAACTC	0.343000														73			12		0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94847393	94847393	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94847393C>T	uc001ycy.4	-	4	1286	c.732G>A	c.(730-732)atG>atA	p.M244I	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Missense_Mutation_p.M244I|SERPINA1_uc010auy.3_Missense_Mutation_p.M244I|SERPINA1_uc001ycz.4_Missense_Mutation_p.M244I|SERPINA1_uc010auz.3_Missense_Mutation_p.M244I|SERPINA1_uc010ava.3_Missense_Mutation_p.M244I|SERPINA1_uc001ydb.4_Missense_Mutation_p.M244I|SERPINA1_uc010avb.3_Missense_Mutation_p.M244I|SERPINA1_uc001ydc.4_Missense_Mutation_p.M244I|SERPINA1_uc010auw.3_Missense_Mutation_p.M244I|SERPINA1_uc010aux.3_Missense_Mutation_p.M244I|SERPINA1_uc001yda.1_Missense_Mutation_p.M244I	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	244					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AACGCTTCATCATAGGCACCT	0.532000														58			9		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13885322	13885322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13885322C>T	uc003jfd.2	-	18	2801	c.2759G>A	c.(2758-2760)gGa>gAa	p.G920E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	920	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)					GTCAAAATTTCCTTCTTCTCT	0.383000									Kartagener syndrome					42			22		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622674	38622675	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38622674_38622675GG>AA	uc021wvo.1	-	15	3027_3028	c.2975_2976CC>TT	c.(2974-2976)ccc>cTT	p.P992L	SCN5A_uc021wvk.1_Missense_Mutation_p.P992L|SCN5A_uc021wvl.1_Missense_Mutation_p.P992L|SCN5A_uc021wvm.1_Missense_Mutation_p.P992L|SCN5A_uc021wvn.1_Missense_Mutation_p.P992L|SCN5A_uc021wvp.1_Missense_Mutation_p.P992L|SCN5A_uc021wvq.1_Missense_Mutation_p.P992L|SCN5A_uc021wvr.1_Missense_Mutation_p.P992L|SCN5A_uc021wvs.1_Missense_Mutation_p.P992L|SCN5A_uc021wvt.1_Missense_Mutation_p.P992L|SCN5A_uc021wvu.1_Missense_Mutation_p.P992L|SCN5A_uc021wvv.1_Missense_Mutation_p.P992L|SCN5A_uc021wvj.1_Missense_Mutation_p.P858L|SCN5A_uc021wvi.1_Missense_Mutation_p.P858L|SCN5A_uc021wvw.1_Missense_Mutation_p.P603L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	992					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAAGGGCTGCGGGCTTCTGAGG	0.688000														14			6		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87724972	87724972	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:87724972G>A	uc003hpz.3	+	42	7096	c.6616G>A	c.(6616-6618)Ggt>Agt	p.G2206S	PTPN13_uc003hpy.3_Missense_Mutation_p.G2211S|PTPN13_uc003hqa.3_Missense_Mutation_p.G2187S|PTPN13_uc003hqb.3_Missense_Mutation_p.G2015S|PTPN13_uc003hqc.1_Missense_Mutation_p.G572S	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2206				GLLDQ -> VARS (in Ref. 5; CAA56124).		cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGTCCTGCGGGGTTTGCTAGA	0.458000														158			12		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210948733	210948733	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:210948733G>A	uc001hib.2	-	9	2239	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	KCNH1_uc001hic.2_Missense_Mutation_p.S663F	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	690	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.H689N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCGGGAGAAGGAATGGGAGAA	0.473000														31			18		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430821	43430821	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43430821C>T	uc002ovl.4	-	4	856	c.754G>A	c.(754-756)Gag>Aag	p.E252K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.E131K	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	253	Ig-like C2-type 2.				female pregnancy	extracellular region							Prostate(69;0.00682)				TCCTTATTCTCCCTGGGGTTT	0.488000														366			73		0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12845054	12845054	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:12845054G>A	uc003bxk.2	+	1	185	c.136G>A	c.(136-138)Gag>Aag	p.E46K	CAND2_uc003bxj.2_Missense_Mutation_p.E46K	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	46					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CGAGGACAGCGAGCGCAAGGT	0.602000														52			10		0	0	1	0	0
C10orf47	254427	broad.mit.edu	37	10	11911536	11911536	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:11911536C>T	uc001ikx.3	+	3	593	c.439C>T	c.(439-441)Cct>Tct	p.P147S	LOC219731_uc001iky.2_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA.	147	Pro-rich.									central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TGCTGAGACTCCTCCACCTCC	0.667000														35			13		0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75609555	75609555	+	Silent	SNP	C	T	T	rs147867930		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75609555C>T	uc001dgo.3	+	6	1300	c.636C>T	c.(634-636)gcC>gcT	p.A212A	LHX8_uc021oou.1_Silent_p.A212A|LHX8_uc001dgq.3_Silent_p.A151A	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.	212						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TGGAAGGTGCCCTCCTCACAG	0.393000														46			15		0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67502952	67502952	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:67502952G>A	uc004dww.4	-	3	552	c.258C>T	c.(256-258)tcC>tcT	p.S86S	OPHN1_uc011mpg.2_Silent_p.S86S|OPHN1_uc004dwx.3_Silent_p.S86S	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	86					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						ATTCCTTGAAGGATTCAGCTG	0.413000														21			17		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50781399	50781399	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50781399G>A	uc010enu.1	+	29	3932	c.3885G>A	c.(3883-3885)cgG>cgA	p.R1295R	MYH14_uc002prq.1_Silent_p.R1262R|MYH14_uc002prr.1_Silent_p.R1254R|MYH14_uc010ycb.2_5'UTR	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1254					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCGAGCTGCGGGCAGAACTGA	0.642000														25			7		0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135042402	135042402	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135042402G>A	uc004cbh.2	+	1	960	c.184G>A	c.(184-186)Gga>Aga	p.G62R		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	62	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CATCACATGTGGAGACCCCCC	0.587000														35			4		0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66209075	66209075	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:66209075C>T	uc001xin.3	+	10	3402	c.1675C>T	c.(1675-1677)Cga>Tga	p.R559*	FUT8_uc001xio.3_Nonsense_Mutation_p.R559*|FUT8_uc010tsp.2_Nonsense_Mutation_p.R396*|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Nonsense_Mutation_p.R559*|FUT8_uc001xiq.3_Nonsense_Mutation_p.R430*|FUT8_uc021ruy.1_Nonsense_Mutation_p.R430*	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	559	SH3.				L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CTACAAAGTTCGAGAGAAGAT	0.448000														59			21		0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149430317	149430317	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149430317C>T	uc003wfz.3	+	17	2670	c.2271C>T	c.(2269-2271)ctC>ctT	p.L757L	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Silent_p.L365L	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	758	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGAGGCTGCTCCCCCAGGGCC	0.642000														186			47		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65500011	65500011	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65500011C>T	uc002aon.2	-	3	335	c.154_splice	c.e3+1	p.S52_splice		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	52					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ACAACTCACTCTCCAGGGTGT	0.592000														25			27		0	0	1	0	0
NTF3	4908	broad.mit.edu	37	12	5603410	5603410	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:5603410C>T	uc001qnl.4	+	0	113	c.30C>T	c.(28-30)ctC>ctT	p.L10L	NTF3_uc001qnk.4_Silent_p.L23L	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	10					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.L10L(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TGATATTTCTCGCTTATCTCC	0.433000														69			26		0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56646657	56646657	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56646657G>A	uc001skm.4	-	11	1298	c.1208C>T	c.(1207-1209)tCa>tTa	p.S403L		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	403							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						ATTGCTGAGTGAAGACACAAT	0.512000														14			7		0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473988	53473988	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53473988C>T	uc002qan.4	-	3		c.513G>A								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		AAGGAAAAATCTCCAGTGTGA	0.408000														132			13		0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45968358	45968358	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45968358G>A	uc001zvu.3	+	6	907	c.714G>A	c.(712-714)ggG>ggA	p.G238G	SQRDL_uc001zvv.3_Silent_p.G238G	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	238							oxidoreductase activity	p.G238W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CCATTTTCGGGGTTAAGAAGT	0.443000														191			95		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67726390	67726390	+	Missense_Mutation	SNP	C	T	T	rs145119798	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:67726390C>T	uc009xpn.1	-	16	2503	c.2380G>A	c.(2380-2382)Gga>Aga	p.G794R	CTNNA3_uc001jmw.2_Missense_Mutation_p.G794R	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	794					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATGAGCTCTCCTCCCAGGTTC	0.448000														94			37		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324450	79324450	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:79324450C>T	uc010mpk.3	-	7	2864	c.2740G>A	c.(2740-2742)Gaa>Aaa	p.E914K	PRUNE2_uc022bih.1_Missense_Mutation_p.E736K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	914					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTACCTTTTCATATACCTTG	0.398000														208			53		0	0	1	0	0
CTRB1	1504	broad.mit.edu	37	16	75258657	75258657	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:75258657G>A	uc002fds.3	+	6	707	c.685G>A	c.(685-687)Ggc>Agc	p.G229S		NM_001906	NP_001897			Homo sapiens chymotrypsinogen B1 (CTRB1), mRNA.											central_nervous_system(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.166)		GACCCTGGTGGGCATTGTGTC	0.647000														72			19		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50209536	50209536	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50209536G>A	uc010eng.3	+	11	1525	c.1209G>A	c.(1207-1209)gaG>gaA	p.E403E	CPT1C_uc002ppl.4_Silent_p.E369E|CPT1C_uc002ppi.3_Silent_p.E320E|CPT1C_uc002ppk.3_Silent_p.E392E|CPT1C_uc010enh.3_Silent_p.E403E|CPT1C_uc002ppj.3_Silent_p.E403E|CPT1C_uc010ybc.1_Silent_p.E274E|CPT1C_uc010eni.1_Silent_p.E60E	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	403					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		AGGCAGCGGAGGCCCTGGAGG	0.701000														23			5		0	0	1	0	0
PPP1R18	170954	broad.mit.edu	37	6	30652329	30652329	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30652329G>A	uc003nra.3	-	1	1698	c.1467C>T	c.(1465-1467)acC>acT	p.T489T	PPP1R18_uc003nrb.4_Silent_p.T489T	NM_001134870	NP_597728	Q6NYC8	PHTNS_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 18 (PPP1R18), transcript variant 2, mRNA.	489						cytoplasm|cytoskeleton	actin binding										TGGCTGGAGAGGTTGGGGTGG	0.687000														24			4		0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169663684	169663684	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:169663684G>A	uc011bpp.2	-	1		c.4119C>T								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		CAGGGCAGGAGCCCCTGTCAG	0.443000														92			13		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28895627	28895627	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:28895627C>T	uc001usb.3	-	22	3432	c.3147G>A	c.(3145-3147)aaG>aaA	p.K1049K	FLT1_uc010aap.2_Silent_p.K54K|FLT1_uc010aaq.2_Silent_p.K174K|FLT1_uc001usa.3_Silent_p.K267K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1049	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AATCGGGGTTCTTATAAATAT	0.383000														76			35		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238441	3238441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:3238441C>T	uc004crg.4	-	4	5442	c.5285G>A	c.(5284-5286)aGa>aAa	p.R1762K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1762						extracellular region				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)				AATAACTTTTCTCTCTCTCAT	0.512000														11			19		0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55065620	55065620	+	RNA	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55065620G>C	uc021qjb.1	-	0		c.89C>G			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		TGTCTTGCCAGTTGAGGTAGA	0.493000														47			15		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117043327	117043328	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:117043327_117043328GG>AA	uc011mtp.2	-	5	1444_1445	c.1311_1312CC>TT	c.(1309-1314)ttccac>ttTTac	p.H438Y	KLHL13_uc004eqk.3_Missense_Mutation_p.H384Y|KLHL13_uc004eql.3_Missense_Mutation_p.H435Y|KLHL13_uc011mtn.2_Missense_Mutation_p.H275Y|KLHL13_uc011mto.2_Missense_Mutation_p.H429Y|KLHL13_uc011mtq.2_Missense_Mutation_p.H419Y|KLHL13_uc004eqm.3_Missense_Mutation_p.H393Y|KLHL13_uc022cde.1_Missense_Mutation_p.H419Y	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	435					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCACTTAGGTGGAAGAAGGTGC	0.396000														16			18		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96522620	96522620	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96522620C>T	uc010qnz.2	+	0	158	c.158C>T	c.(157-159)tCc>tTc	p.S53F	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	53					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GTCAGCAAATCCTTAACCAAT	0.403000														66			30		0	0	1	0	0
DSCR6	53820	broad.mit.edu	37	21	38380522	38380522	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:38380522C>T	uc002yvv.3	+	2	381	c.171_splice	c.e2+1	p.P57_splice	DSCR6_uc011aec.2_Splice_Site|DSCR6_uc010gnd.3_Splice_Site	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	57						nucleus				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				ACTGGAAGGCCGGTAAGGTTC	0.597000														37			17		0	0	1	0	0
CKMT1A	548596	broad.mit.edu	37	15	43990917	43990917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43990917G>A	uc001zsn.3	+	8	1482	c.1090G>A	c.(1090-1092)Ggc>Agc	p.G364S	CKMT1A_uc010uea.2_Missense_Mutation_p.G395S	NM_001015001	NP_066270	P12532	KCRU_HUMAN	Homo sapiens creatine kinase, mitochondrial 1A (CKMT1A), nuclear gene encoding mitochondrial protein, mRNA.	364	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TGCTGCCACAGGCGGTGTCTT	0.502000														83			49		0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60067864	60067864	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:60067864G>A	uc003jsi.4	-	3	321	c.121C>T	c.(121-123)Cta>Tta	p.L41L	ELOVL7_uc011cqo.2_5'UTR|ELOVL7_uc010iwk.3_Silent_p.L41L|ELOVL7_uc003jsj.4_Silent_p.L28L	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	41					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TAGAATCCTAGGAGGATGGTT	0.423000														17			13		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124982286	124982286	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:124982286C>T	uc003yqw.3	+	5	602	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	132	C2 1.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACTTTGTCTTCGACTTCATTG	0.413000														75			28		0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35544969	35544969	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:35544969C>T	uc011dte.1	-	9	1271	c.1068G>A	c.(1066-1068)agG>agA	p.R356R	FKBP5_uc003okx.2_Silent_p.R356R|FKBP5_uc011dtf.1_Silent_p.R177R|FKBP5_uc003oky.2_Silent_p.R356R	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	356					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CTTCACCCCTCCTATACAAGC	0.453000														223			17		0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379287	114379287	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:114379287G>A	uc003pwg.4	-	1	207	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Missense_Mutation_p.R59C	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	59					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	p.R59H(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TGCAGGGCGCGAAGTGGGAAT	0.577000														20			12		0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16535241	16535241	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:16535241G>A	uc003cay.3	-	1	418	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L		NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	46						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CCAGCACTCAGAGTCGTGAAC	0.547000														207			70		0	0	1	0	0
UBE2W	55284	broad.mit.edu	37	8	74722759	74722759	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:74722759G>A	uc003xzv.3	-	3	369	c.316C>T	c.(316-318)Caa>Taa	p.Q106*	UBE2W_uc003xzt.2_Nonsense_Mutation_p.Q106*|UBE2W_uc003xzu.3_Nonsense_Mutation_p.Q117*|UBE2W_uc003xzw.3_Non-coding_Transcript	NM_018299	NP_060769	Q96B02	UBE2W_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2W (putative) (UBE2W), transcript variant 2, mRNA.	106					protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			CAAACTGATTGGACTGAGAGC	0.378000														83			30		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81743479	81743479	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:81743479C>T	uc010tvu.2	-	3	2374	c.2176G>A	c.(2176-2178)Gag>Aag	p.E726K	STON2_uc001xvk.1_Missense_Mutation_p.E726K|STON2_uc010tvt.2_Missense_Mutation_p.E523K	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	726	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ATCACATTCTCACAGGGAACC	0.552000														145			64		0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1734132	1734132	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:1734132G>A	uc004cqd.3	+	1	256	c.40G>A	c.(40-42)Gac>Aac	p.D14N	ASMT_uc010ncy.3_Missense_Mutation_p.D14N|ASMT_uc004cqe.3_Missense_Mutation_p.D14N	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	14					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTCCTTAATGACTACGCCAA	0.552000														3			4		0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94394743	94394743	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94394743C>T	uc001ybz.2	+	2	623	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Missense_Mutation_p.R38C|FAM181A_uc021saz.1_Missense_Mutation_p.R38C|FAM181A_uc010aus.2_Missense_Mutation_p.R38C|FAM181A_uc001yca.2_Missense_Mutation_p.R38C	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	100										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CGTGGACCATCGCAAGTACCT	0.612000														25			13		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563900	176563900	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176563900G>A	uc001gkz.3	+	2	2324	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N	PAPPA2_uc001gky.1_Missense_Mutation_p.S387N|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	387					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGGTGGCTAGCAGTCTAGAC	0.577000														62			25		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207590	58207590	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:58207590C>T	uc001vhq.1	+	0	1802	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	PCDH17_uc010aec.1_Missense_Mutation_p.R304C	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	304	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGGCCTAATCCGTGTGAAGGG	0.577000														44			18		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899646	133899646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133899646C>T	uc003ytw.3	+	8	2070	c.2029C>T	c.(2029-2031)Cct>Tct	p.P677S		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	677	Thyroglobulin type-1 6.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGGCAGCCAGCCTGCTGGCTC	0.552000														52			16		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15608549	15608549	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:15608549G>A	uc002rcc.1	-	16	1860	c.1834C>T	c.(1834-1836)Ctg>Ttg	p.L612L	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	612								p.L612P(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGAGCCTCCAGGTCTGTGCCT	0.413000														148			40		0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8181439	8181439	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:8181439G>A	uc003sro.4	-	9	1047	c.911C>T	c.(910-912)tCa>tTa	p.S304L	ICA1_uc010ktr.3_Missense_Mutation_p.S333L|ICA1_uc003srm.3_Missense_Mutation_p.S304L|ICA1_uc003srn.4_Missense_Mutation_p.S230L|ICA1_uc003srq.3_Missense_Mutation_p.S304L|ICA1_uc003srr.3_Missense_Mutation_p.S303L|ICA1_uc010kts.3_Intron	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	304					neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTCCTCTAATGAAATTAATCT	0.279000														22			3		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885581	24885581	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24885581G>A	uc001wpf.4	+	8	4944	c.4626G>A	c.(4624-4626)agG>agA	p.R1542R		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1542					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AACTCCGGAGGGATCTGATTT	0.567000														11			9		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106907399	106907399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106907399G>A	uc001kyi.1	+	8	1554	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	443						integral to membrane	neuropeptide receptor activity	p.E443G(1)|p.D442D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGTACAGACGAGAACCAAGT	0.473000														79			30		0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38397257	38397257	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:38397257G>A	uc022bgy.1	+	0	1512	c.1512G>A	c.(1510-1512)gaG>gaA	p.E504E	ALDH1B1_uc004aay.3_Silent_p.E504E	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	504					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CCTACACAGAGGTAAAGACGG	0.532000														29			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065888	9065888	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9065888C>T	uc002mkp.3	-	2	21762	c.21558G>A	c.(21556-21558)gtG>gtA	p.V7186V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7188	Ser-rich.|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						TGGGAATCTCCACATTGGACG	0.507000														147			14		0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111766711	111766711	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:111766711C>T	uc010hqb.2	+	4	648	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	TMPRSS7_uc011bhr.1_Missense_Mutation_p.R15C	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	286					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTACCTGATTCGTCTCTCAAT	0.527000														43			27		0	0	1	0	0
PREB	10113	broad.mit.edu	37	2	27354630	27354630	+	Missense_Mutation	SNP	G	A	A	rs150589957	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27354630G>A	uc002rix.1	-	7	1322	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	PREB_uc002riy.1_Missense_Mutation_p.R285C	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN	Homo sapiens prolactin regulatory element binding (PREB), mRNA.	357					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGGACCACGACCCTTCTCA	0.567000														168			68		0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104230740	104230740	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104230740C>T	uc001kvt.3	+	4	789	c.570C>T	c.(568-570)tcC>tcT	p.S190S	TMEM180_uc001kvs.3_Intron|TMEM180_uc010qql.2_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.3_Silent_p.S190S	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	Homo sapiens transmembrane protein 180 (TMEM180), mRNA.	190						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AGGATTTCTCCTCCTTCCGCG	0.617000														114			48		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101684039	101684039	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:101684039C>T	uc001tia.1	+	6	878	c.722C>T	c.(721-723)tCc>tTc	p.S241F	UTP20_uc009ztz.1_Missense_Mutation_p.S241F	NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	241					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.H240L(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATGTTTCACTCCTGTACAGGC	0.393000														40			10		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167142880	167142880	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:167142880C>T	uc010fpl.3	-	10	1909	c.1568G>A	c.(1567-1569)cGa>cAa	p.R523Q	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.R394Q|SCN9A_uc002uds.1_Missense_Mutation_p.R394Q|SCN9A_uc002udt.1_Missense_Mutation_p.R394Q	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	523						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R523L(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTCATGTGCTCGCCTATGCCC	0.438000														262			71		0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113304061	113304061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:113304061C>T	uc021xcn.1	+	8	1596	c.945C>T	c.(943-945)ttC>ttT	p.F315F	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Silent_p.F315F|SIDT1_uc011big.2_Silent_p.F68F	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	315						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TCAGTGTCTTCATCTTCCTGT	0.413000														202			63		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70917960	70917961	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:70917960_70917961GG>AA	uc021vjc.1	-	7	1071_1072	c.806_807CC>TT	c.(805-807)gcc>gTT	p.A269V	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.A269V|ADD2_uc002sgz.3_Missense_Mutation_p.A269V|ADD2_uc010fdt.2_Missense_Mutation_p.A269V|ADD2_uc002shc.2_Missense_Mutation_p.A269V|ADD2_uc010fdu.2_Missense_Mutation_p.A285V	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	269					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGATCCGATCGGCTTCCTGCTC	0.535000														81			24		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121328208	121328208	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:121328208C>T	uc003yox.3	+	39	4896	c.4631C>T	c.(4630-4632)cCa>cTa	p.P1544L	COL14A1_uc003yoz.3_Missense_Mutation_p.P509L	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1544	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GTTGGTTCACCAGGACGTGAT	0.502000														37			14		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57107002	57107002	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:57107002G>A	uc002lib.3	-	7	892	c.822C>T	c.(820-822)ggC>ggT	p.G274G	CCBE1_uc010dpq.3_Intron|CCBE1_uc002lia.3_Silent_p.G127G	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	274	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GCCCAGGAGGGCCTGGCATAC	0.602000														54			16		0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158369140	158369140	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158369140G>A	uc010pih.2	-	0	117	c.117C>T	c.(115-117)atC>atT	p.I39I		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TGGCCACCAGGATTGTCAAGT	0.483000														36			24		0	0	1	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24533775	24533775	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:24533775G>A	uc003nef.3	+	10	1510	c.1482G>A	c.(1480-1482)gtG>gtA	p.V494V	ALDH5A1_uc003neg.3_Silent_p.V481V	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	481					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	TCTGGAGAGTGGCAGAGCAGC	0.488000														97			32		0	0	1	0	0
RNASE10	338879	broad.mit.edu	37	14	20978633	20978633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20978633G>A	uc001vxp.2	+	1	491	c.87G>A	c.(85-87)atG>atA	p.M29I	RNASE10_uc010tlj.2_Missense_Mutation_p.M1I	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Homo sapiens ribonuclease, RNase A family, 10 (non-active) (RNASE10), mRNA.	1						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CAGGCAAAATGAAGCTGAATC	0.488000														109			37		0	0	1	0	0
UIMC1	51720	broad.mit.edu	37	5	176378527	176378527	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176378527G>A	uc021yil.1	-	8	1558	c.1391C>T	c.(1390-1392)cCa>cTa	p.P464L	UIMC1_uc021yim.1_Missense_Mutation_p.P464L|UIMC1_uc021yin.1_Missense_Mutation_p.P464L|UIMC1_uc003mfd.2_Missense_Mutation_p.P94L|UIMC1_uc003mff.1_Missense_Mutation_p.P94L	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Homo sapiens ubiquitin interaction motif containing 1 (UIMC1), transcript variant 2, mRNA.	464	Necessary for interaction with NR6A1 C- terminus.				G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	K63-linked polyubiquitin binding|histone binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGCTACCTGGAGAGACTTC	0.353000														281			94		0	0	1	0	0
INTS4L1	285905	broad.mit.edu	37	7	64649419	64649419	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:64649419C>T	uc003ttw.3	+	8		c.1200C>T								Homo sapiens integrator complex subunit 4-like 1 (INTS4L1), non-coding RNA.																		CAAGAGGATCCTTCGCAGCAG	0.502000														71			23		0	0	1	0	0
EPT1	85465	broad.mit.edu	37	2	26607905	26607905	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:26607905C>T	uc021veu.1	+	7	957	c.810C>T	c.(808-810)ttC>ttT	p.F270F	EPT1_uc010eyl.1_Intron	NM_033505		Q9C0D9	EPT1_HUMAN	Homo sapiens ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) (EPT1), mRNA.	270					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding										GCTTGCTGTTCATTTTGTCTA	0.358000														48			14		0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124528805	124528805	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:124528805C>T	uc004bln.3	+	8	1478	c.1409C>T	c.(1408-1410)gCc>gTc	p.A470V	DAB2IP_uc004blo.3_Missense_Mutation_p.A374V|DAB2IP_uc004blp.3_5'Flank	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	498	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GAGGTGTTTGCCTCGTGGAGG	0.627000														32			16		0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55044017	55044017	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55044017G>A	uc010yfa.1	+	0		c.109G>A			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GTGGCACCATGGCCCCCAAAC	0.507000														117			51		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55958861	55958861	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:55958861C>T	uc003has.3	-	21	3294	c.2992G>A	c.(2992-2994)Gac>Aac	p.D998N	KDR_uc003hat.1_Missense_Mutation_p.D998N	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	998	Protein kinase.				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			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)	GTCAGGAAGTCCTTATACAGA	0.448000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				52			15		0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172425563	172425563	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:172425563G>A	uc001gik.3	+	3	405	c.207G>A	c.(205-207)agG>agA	p.R69R		NM_139240	NP_640333	O95561	CA105_HUMAN	Homo sapiens chromosome 1 open reading frame 105 (C1orf105), mRNA.	69										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AGGCCAGGAGGAACCAGTGTG	0.532000														142			51		0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45731469	45731469	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45731469C>T	uc002pay.1	-	2	187	c.146G>A	c.(145-147)gGg>gAg	p.G49E		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	49										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CTCCAGGCTCCCCCAGTGCTC	0.667000														109			49		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348928	89348928	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89348928G>A	uc002fmx.1	-	8	4483	c.4022C>T	c.(4021-4023)cCt>cTt	p.P1341L	ANKRD11_uc002fmy.1_Missense_Mutation_p.P1341L|ANKRD11_uc002fnc.1_Missense_Mutation_p.P1341L|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P1298L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1341	Lys-rich.					nucleus		p.L1340L(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CAGCTTCTCAGGGAGGCAGGC	0.592000														52			24		0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538598	4538598	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4538598G>A	uc002mau.3	-	1	409	c.398C>T	c.(397-399)cCg>cTg	p.P133L	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	133			P -> S (in dbSNP:rs966384).			extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGAGGCCCGGGGGCAGCCC	0.632000														46			23		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35802590	35802590	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35802590C>T	uc003zyd.3	+	10	1801	c.1801C>T	c.(1801-1803)Cgt>Tgt	p.R601C	NPR2_uc010mlb.3_Missense_Mutation_p.R601C	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	601	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATACTGTCCTCGTGGGAGTTT	0.488000														65			22		0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65373509	65373509	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65373509G>A	uc001oew.3	-	6	2140	c.1647C>T	c.(1645-1647)ccC>ccT	p.P549P	MAP3K11_uc001oev.3_5'UTR|MAP3K11_uc010rol.2_Silent_p.P292P|MAP3K11_uc001oex.1_Silent_p.P56P	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	549					G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CCAGACGTCGGGGGGACTGGC	0.607000														21			8		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124393810	124393810	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124393810C>T	uc001uft.4	+	56	9489	c.9464C>T	c.(9463-9465)tCg>tTg	p.S3155L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3155	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTTGCCAGGTCGTTTGCTAAG	0.542000														18			13		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70349006	70349006	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70349006G>A	uc001oqc.3	-	14	2012	c.1900C>T	c.(1900-1902)Cac>Tac	p.H634Y	SHANK2_uc010rqn.2_Missense_Mutation_p.H110Y|SHANK2_uc001opz.3_Missense_Mutation_p.H110Y|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.H110Y|SHANK2_uc001opy.3_5'Flank|SHANK2_uc010rqo.1_5'Flank	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	319					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACCTGCCTGTGGCCGACTTTG	0.577000														74			22		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53015326	53015326	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53015326G>A	uc002pzp.4	+	5	1936	c.1692G>A	c.(1690-1692)gaG>gaA	p.E564E		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATAGCGGAGAGAAACCTTACA	0.393000														68			26		0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50294041	50294041	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50294041G>A	uc001jhf.2	-	2	514	c.485C>T	c.(484-486)tCa>tTa	p.S162L		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	162						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CTCAAAGGATGACTCTTCAGA	0.318000														61			12		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181745299	181745299	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181745299C>T	uc009wxt.3	+	37	5397	c.5202C>T	c.(5200-5202)tcC>tcT	p.S1734S	CACNA1E_uc001gow.3_Silent_p.S1734S|CACNA1E_uc009wxs.3_Silent_p.S1715S|CACNA1E_uc001gox.1_Silent_p.S960S	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1734					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						GGGACTCCTCCATCCTGGGGC	0.607000														157			71		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369443	56369443	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56369443C>T	uc002qmd.4	+	2	1106	c.684C>T	c.(682-684)ttC>ttT	p.F228F	NLRP4_uc002qmf.3_Silent_p.F153F|NLRP4_uc010etf.3_Silent_p.F59F	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	228	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GACTCTTGTTCGTCATCGACA	0.552000														81			33		0	0	1	0	0
MFAP5	8076	broad.mit.edu	37	12	8800731	8800731	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8800731G>A	uc001qut.1	-	9	691	c.478C>T	c.(478-480)Cct>Tct	p.P160S	MFAP5_uc001qus.2_Missense_Mutation_p.P150S|MFAP5_uc009zge.1_Missense_Mutation_p.P135S	NM_003480	NP_003471	Q13361	MFAP5_HUMAN	Homo sapiens microfibrillar associated protein 5 (MFAP5), mRNA.	160						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					TCACAGGGAGGAAGTCGGAAG	0.478000														56			14		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560616	210560616	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:210560616C>T	uc002vde.1	+	6	3970	c.3722C>T	c.(3721-3723)gCc>gTc	p.A1241V	MAP2_uc002vdc.1_Missense_Mutation_p.A1241V|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.A1237V	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1241					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GAGATAGAAGCCCAGGGAGAA	0.493000														56			8		0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124012331	124012331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124012331C>T	uc001pzu.3	+	15	2115	c.1906C>T	c.(1906-1908)Cgt>Tgt	p.R636C	VWA5A_uc001pzt.3_Missense_Mutation_p.R636C	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	636								p.D635H(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ACACTCTGACCGTCCTCCTTC	0.468000														107			50		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33700343	33700343	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:33700343G>A	uc001uuw.3	-	6	2083	c.1957C>T	c.(1957-1959)Ccc>Tcc	p.P653S	STARD13_uc001uuu.3_Missense_Mutation_p.P645S|STARD13_uc001uuv.3_Missense_Mutation_p.P535S|STARD13_uc001uux.3_Missense_Mutation_p.P618S|STARD13_uc021rhz.1_Missense_Mutation_p.P645S|STARD13_uc021ria.1_Missense_Mutation_p.P535S	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	653					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TTGTAGTCGGGAACTTTCATC	0.498000														162			61		0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182555890	182555890	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:182555890C>T	uc009wxz.2	-	1	309	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	RNASEL_uc001gpk.3_Missense_Mutation_p.G18S|RNASEL_uc009wya.1_Missense_Mutation_p.G18S	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	18					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GCCCTTCTACCGCTGGAGGAC	0.498000														149			17		0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66859118	66859118	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:66859118G>A	uc001stk.3	-	7	1050	c.809C>T	c.(808-810)tCg>tTg	p.S270L	GRIP1_uc010sta.1_Missense_Mutation_p.S214L|GRIP1_uc001stj.3_5'UTR|GRIP1_uc001stm.3_Missense_Mutation_p.S270L|GRIP1_uc001stl.1_Missense_Mutation_p.S214L	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	270	PDZ 3.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ACAGCACATCGAGGTAGTTAG	0.463000														76			35		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466993	56466993	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56466993C>T	uc002qmh.3	+	2	1640	c.1569C>T	c.(1567-1569)ttC>ttT	p.F523F	NLRP8_uc010etg.3_Silent_p.F523F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	523	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCTCTGTTTCCCACAAAGAC	0.443000														176			61		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8234014	8234014	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:8234014G>A	uc003wsh.4	-	1	1905	c.1905C>T	c.(1903-1905)tgC>tgT	p.C635C		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	635							ATP binding|non-membrane spanning protein tyrosine kinase activity										CCTCTATCCGGCACTGACGAC	0.602000														53			17		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272456	158272456	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:158272456C>A	uc002tzj.1	-	7	885	c.813G>T	c.(811-813)agG>agT	p.R271S	CYTIP_uc010zcl.1_Missense_Mutation_p.R165S	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	271	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TGAAGGCACCCCTGCTGGAGT	0.532000														57			28		1.75199e-13	1.75967e-13	1	1	0
NTNG1	22854	broad.mit.edu	37	1	107979316	107979316	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:107979316C>T	uc001dvh.4	+	6	2003	c.1285C>T	c.(1285-1287)Cat>Tat	p.H429Y	NTNG1_uc001dvc.4_Intron|NTNG1_uc010out.2_Missense_Mutation_p.H395Y|NTNG1_uc001dvf.4_Intron|NTNG1_uc001dvi.3_5'UTR|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Intron|NTNG1_uc009wem.3_Intron	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	429	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GGGCTCAATCCATGATCGTTG	0.478000														31			16		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73563112	73563112	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73563112G>A	uc001jrx.4	+	52	8188	c.7798G>A	c.(7798-7800)Gac>Aac	p.D2600N	CDH23_uc001jsg.4_Missense_Mutation_p.D363N|CDH23_uc001jsh.4_Missense_Mutation_p.D363N|CDH23_uc001jsi.4_Missense_Mutation_p.D363N	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2603	Cadherin 24.				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	p.T2600T(1)		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						GGAGGTCATCGACGTCAATGA	0.622000														11			3		0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55277722	55277722	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55277722A>T	uc001cyb.4	+	5	676	c.622A>T	c.(622-624)Agt>Tgt	p.S208C	C1orf177_uc001cya.4_Missense_Mutation_p.S208C	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	208										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GCTCTAGGGGAGTGGTCTGGG	0.622000														124			26		0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26104708	26104708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26104708G>A	uc001bkm.2	+	8	1700	c.1370G>A	c.(1369-1371)gGc>gAc	p.G457D	MAN1C1_uc009vry.1_Missense_Mutation_p.G277D	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	457					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TTCTCCGGGGGCATGATCGCC	0.612000														44			21		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38141867	38141867	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38141867C>T	uc003chp.1	+	18	2836	c.2815C>T	c.(2815-2817)Cag>Tag	p.Q939*	DLEC1_uc003cho.1_Nonsense_Mutation_p.Q939*|DLEC1_uc010hgv.1_Nonsense_Mutation_p.Q939*|DLEC1_uc003chr.1_Nonsense_Mutation_p.Q45*|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	939					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCTGCACTGCCAGCATCTGGA	0.582000														85			36		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97080982	97080982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:97080982G>A	uc004aup.1	-	6	2057	c.2036C>T	c.(2035-2037)cCa>cTa	p.P679L		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	679										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				CTGAGCAGATGGAGACTGAAG	0.612000														11			5		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103055700	103055700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:103055700C>T	uc001phn.1	+	40	6697	c.6553C>T	c.(6553-6555)Cat>Tat	p.H2185Y	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.H2185Y	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2185					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)		TTGCAGAGATCATGACGAATT	0.363000														67			23		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38596017	38596017	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38596017G>A	uc021wvo.1	-	25	4618	c.4566C>T	c.(4564-4566)ttC>ttT	p.F1522F	SCN5A_uc021wvk.1_Silent_p.F1521F|SCN5A_uc021wvl.1_Silent_p.F1468F|SCN5A_uc021wvm.1_Silent_p.F1504F|SCN5A_uc021wvn.1_Silent_p.F1521F|SCN5A_uc021wvp.1_Silent_p.F1522F|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.F1334F|SCN5A_uc021wvi.1_Silent_p.F1388F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1522					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCACAATGTCGAATATGAAGC	0.502000														85			44		0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2893767	2893767	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:2893767G>A	uc003mug.3	-	4	566	c.445C>T	c.(445-447)Ccg>Tcg	p.P149S	AY927512_uc003mue.3_Intron|SERPINB9_uc003muf.3_5'Flank	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	149					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GAGCTACCCGGCAACAACTCT	0.398000														102			41		0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100176357	100176357	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100176357G>A	uc003uvj.3	-	4	704	c.651C>T	c.(649-651)tcC>tcT	p.S217S	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	217					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGGATTCGGGAGACGCGGT	0.622000														68			7		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169910	207169910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:207169910G>A	uc002vbp.2	+	4	908	c.658G>A	c.(658-660)Gac>Aac	p.D220N		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	220							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAGCAAATGTGACCCAAACAA	0.408000														37			6		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90012335	90012335	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:90012335A>C	uc003kju.3	+	42	9332	c.9236A>C	c.(9235-9237)aAc>aCc	p.N3079T	GPR98_uc003kjt.3_Missense_Mutation_p.N785T|GPR98_uc003kjv.3_Missense_Mutation_p.N679T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3079					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTATCATTTAACAACAGTGAG	0.388000														33			4		0	0	1	0	0
C16orf85	400555	broad.mit.edu	37	16	88620276	88620276	+	Silent	SNP	G	A	A	rs140536808		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:88620276G>A	uc010vox.1	-	1	354	c.354C>T	c.(352-354)ctC>ctT	p.L118L						RecName: Full=Putative uncharacterized protein C16orf85;											kidney(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(80;0.048)		GGGATCTGGGGAGGAAGGAGT	0.582000														49			5		0	0	1	0	0
LOC644189	644189	broad.mit.edu	37	19	36913052	36913052	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36913052C>T	uc002odz.1	+	0		c.977C>T								Homo sapiens acyl-CoA thioesterase 4 pseudogene (LOC644189), non-coding RNA.																		TGGAGTACTTCGAAGAAGCCC	0.507000														113			50		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126398443	126398443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126398443C>T	uc003ifj.4	+	12	12427	c.12427C>T	c.(12427-12429)Cct>Tct	p.P4143S	FAT4_uc011cgp.2_Missense_Mutation_p.P2406S|FAT4_uc003ifi.1_Missense_Mutation_p.P1621S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4143	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAATGGAAGGCCTCTGGAACC	0.413000														139			52		0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22006318	22006318	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:22006318G>A	uc003xav.3	-	7	1291	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A	LGI3_uc010ltu.3_Silent_p.A310A	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	334					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CGATGCGGAAGGCTTCTAGGT	0.607000														32			13		0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49094946	49094946	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49094946G>A	uc010hkq.3	-	3	983	c.687C>T	c.(685-687)ccC>ccT	p.P229P	QRICH1_uc003cvu.3_Silent_p.P229P|QRICH1_uc003cvv.3_Silent_p.P229P|QRICH1_uc021wxr.1_Silent_p.P166P	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	229	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCCCTTCCCGGGGTGAGCCCT	0.632000														45			24		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79328522	79328522	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:79328522C>T	uc010mpk.3	-	6	996	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	PRUNE2_uc022bih.1_Missense_Mutation_p.R113Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	291					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCAATCTGTCGTCTCGGCTG	0.502000														9			3		0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111572220	111572220	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:111572220C>T	uc001plt.3	+	5	766	c.648C>T	c.(646-648)ccC>ccT	p.P216P		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	Homo sapiens salt-inducible kinase 2 (SIK2), mRNA.	216	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GAGCTCTGCCCTTTGATGGAC	0.423000														201			20		0	0	1	0	0
RYK	6259	broad.mit.edu	37	3	133894509	133894509	+	Missense_Mutation	SNP	G	A	A	rs144378986	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:133894509G>A	uc003eqc.1	-	13	1614	c.1516C>T	c.(1516-1518)Cgt>Tgt	p.R506C	RYK_uc003eqd.1_Missense_Mutation_p.R503C	NM_001005861	NP_001005861	P34925	RYK_HUMAN	Homo sapiens RYK receptor-like tyrosine kinase (RYK), transcript variant 1, mRNA.	504	Protein kinase.				Wnt receptor signaling pathway|corpus callosum development|positive regulation of MAPKKK cascade	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						GCCATCCAACGAACTGGCCTG	0.473000														136			65		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587530	179587530	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179587530T>C	uc021vsy.1	-	72	18589	c.18364A>G	c.(18364-18366)Act>Gct	p.T6122A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T2783A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7049	Ig-like 42.						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)			TATTCAGGAGTTGGCCGTAAT	0.418000														30			10		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107684286	107684286	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107684286C>T	uc010ljo.1	-	28	4466	c.4382G>A	c.(4381-4383)aGg>aAg	p.R1461K	LAMB4_uc003vey.2_Missense_Mutation_p.R1461K|LAMB4_uc010ljp.1_Missense_Mutation_p.R430K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1461	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CAGTTTTTCCCTCAGCTGTAA	0.323000														61			19		0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30433256	30433256	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30433256G>A	uc002wwt.1	-	0	165	c.90C>T	c.(88-90)gcC>gcT	p.A30A		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	30					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA 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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						AGCTCTGGATGGCCATAGCAA	0.662000														91			24		0	0	1	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692252	31692252	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:31692252C>T	uc002ynw.3	-	0	356	c.102G>A	c.(100-102)gtG>gtA	p.V34V		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA.	34						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CTCCACAGCTCACGCTGGTAG	0.557000														91			38		0	0	1	0	0
LOC646762	646762	broad.mit.edu	37	7	29690529	29690529	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:29690529G>A	uc003tad.4	-	1		c.1476C>T								Homo sapiens uncharacterized LOC646762 (LOC646762), non-coding RNA.																		TGATCGCCAAGACCCTTCTTC	0.582000														10			5		0	0	1	0	0
FOXA3	3171	broad.mit.edu	37	19	46375450	46375450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46375450G>A	uc002pdr.3	+	1	384	c.187G>A	c.(187-189)Gga>Aga	p.G63R		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	63					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		ACTGCCCTCAGGACCCCTGGC	0.706000														53			20		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803596	185803597	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:185803596_185803597GG>AA	uc002uph.3	+	3	4067_4068	c.3473_3474GG>AA	c.(3472-3474)ggg>gAA	p.G1158E		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	1158						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTTTGTCCTGGGAACCAGCCAA	0.510000														131			60		0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55319263	55319263	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55319263G>A	uc001cyc.1	-	7	1370	c.1241C>T	c.(1240-1242)cCg>cTg	p.P414L	DHCR24_uc010ooi.1_Missense_Mutation_p.P57L|DHCR24_uc010ooj.1_Missense_Mutation_p.P228L|DHCR24_uc010ook.1_Missense_Mutation_p.P373L	NM_014762	NP_055577	Q15392	DHC24_HUMAN	Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA.	414					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CAGGATGAACGGACACAGCCA	0.577000														23			10		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440711	124440711	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124440711G>A	uc010san.2	+	0	747	c.747G>A	c.(745-747)ggG>ggA	p.G249G		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E248K(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		CCACAGAGGGGAGATCCAAAG	0.478000														89			28		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14819258	14819258	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14819258C>T	uc003zlm.3	-	14	3336	c.2520G>A	c.(2518-2520)tgG>tgA	p.W840*	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	840					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.S840fs*8(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GGAGATCGCCCCAAGAAAATG	0.428000														30			16		0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151177266	151177266	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:151177266C>T	uc003ilo.4	+	16	2973	c.2219C>T	c.(2218-2220)cCc>cTc	p.P740L	DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Missense_Mutation_p.P723L|DCLK2_uc003iln.4_Missense_Mutation_p.P722L	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	723	Pro-rich.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CCAGTTCCTCCCTCAGTGGAG	0.647000														31			4		0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180359940	180359940	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:180359940C>T	uc010hxe.3	-	12	1830	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	572					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAGCATTTCTCGAGTACGCTT	0.323000														24			10		0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52568891	52568891	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52568891G>A	uc010ydh.1	-	6	2704	c.2244C>T	c.(2242-2244)tcC>tcT	p.S748S	ZNF841_uc002pyl.1_Silent_p.S632S	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	632				L -> P (in Ref. 1; BAC04190).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GGGTTGTAGTGGAGTTAAAGA	0.428000														17			12		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116975543	116975543	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:116975543G>A	uc001lcg.3	+	8	1823	c.1437G>A	c.(1435-1437)aaG>aaA	p.K479K		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	479						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAATAACAAAGTCCATTTATG	0.363000														62			25		0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100380924	100380924	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:100380924G>A	uc001ygr.3	+	15	1768	c.1699G>A	c.(1699-1701)Gga>Aga	p.G567R	EML1_uc010tww.2_Missense_Mutation_p.G536R|EML1_uc001ygs.3_Missense_Mutation_p.G548R	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	548						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGAGCTCTGGGGACTGGCCAT	0.537000														46			6		0	0	1	0	0
GP9	2815	broad.mit.edu	37	3	128780587	128780587	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:128780587C>T	uc003elm.2	+	2	192	c.5C>T	c.(4-6)cCt>cTt	p.P2L	GP9_uc021xdn.1_Missense_Mutation_p.P2L	NM_000174	NP_000165	P14770	GPIX_HUMAN	Homo sapiens glycoprotein IX (platelet) (GP9), mRNA.	2					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	TGTCCCATGCCTGCCTGGGGA	0.682000														16			6		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022300	18022300	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:18022300C>T	uc021trm.1	+	0	405	c.186C>T	c.(184-186)ggC>ggT	p.G62G	MYO15A_uc021trl.1_Silent_p.G62G	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	62	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCTTCTGGGGCCTCCACACCG	0.632000														13			8		0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13150667	13150667	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:13150667G>A	uc010mia.1	-	23	3530	c.3473C>T	c.(3472-3474)cCa>cTa	p.P1158L	MPDZ_uc010mhx.3_Missense_Mutation_p.P50L|MPDZ_uc011lmm.2_Missense_Mutation_p.P50L|MPDZ_uc003zkz.4_Intron|MPDZ_uc010mhz.3_Missense_Mutation_p.P1158L|MPDZ_uc011lmn.2_Missense_Mutation_p.P1158L|MPDZ_uc010mhy.3_Missense_Mutation_p.P1158L|MPDZ_uc003zlb.4_Missense_Mutation_p.P1158L	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1158	PDZ 7.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGATTTGCTTGGTTCTCTCCA	0.403000														34			15		0	0	1	0	0
ABHD5	51099	broad.mit.edu	37	3	43753252	43753252	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:43753252C>T	uc003cmx.3	+	3	668	c.558C>T	c.(556-558)gaC>gaT	p.D186D		NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN	Homo sapiens abhydrolase domain containing 5 (ABHD5), mRNA.	186					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		AACGACCAGACCTTGCTGATC	0.453000														103			46		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1890603	1890603	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1890603C>T	uc001aim.1	-	15	1963	c.1807G>A	c.(1807-1809)Ggc>Agc	p.G603S	KIAA1751_uc009vkz.1_Missense_Mutation_p.G603S	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	603								p.T602M(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GAAAACTCGCCCGTCTGAGCC	0.438000														86			22		0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25775392	25775392	+	Nonsense_Mutation	SNP	G	A	A	rs146140738	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:25775392G>A	uc003cdl.3	-	7	1339	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	NGLY1_uc010hfg.3_Nonsense_Mutation_p.R393*|NGLY1_uc003cdm.3_Nonsense_Mutation_p.R411*|NGLY1_uc011awo.2_Nonsense_Mutation_p.R369*|NGLY1_uc003cdk.3_Non-coding_Transcript	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA.	411					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	p.R411*(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ATAGTGTCTCGAAGTAATGCT	0.358000														88			21		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835510	247835510	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247835510C>T	uc001idi.1	-	0	834	c.834G>A	c.(832-834)gtG>gtA	p.V278V		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V278V(4)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATGTGGGAGTCACAAGAGTAT	0.438000														122			11		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3730588	3730588	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3730588G>A	uc010xhv.2	+	3	554	c.554G>A	c.(553-555)gGt>gAt	p.G185D	TJP3_uc010xhs.2_Missense_Mutation_p.G166D|TJP3_uc010xht.2_Missense_Mutation_p.G130D|TJP3_uc010xhu.2_Missense_Mutation_p.G175D|TJP3_uc010xhw.2_Missense_Mutation_p.G185D	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	166						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)		AGGAGCCCAGGTGGTGGCTCT	0.706000														59			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179633472	179633472	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179633472G>A	uc021vsy.1	-	37	9316	c.9091C>T	c.(9091-9093)Cac>Tac	p.H3031Y	TTN_uc021vsz.1_Missense_Mutation_p.H2985Y|TTN_uc021vta.1_Missense_Mutation_p.H2985Y|TTN_uc021vtb.1_Missense_Mutation_p.H2985Y|TTN_uc002unb.2_Missense_Mutation_p.H3031Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3031	Ig-like 17.						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)			TCCCCAAAGTGAACATTCCTG	0.408000														62			17		0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8422107	8422107	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:8422107G>A	uc002glm.3	-	20	2442	c.2346C>T	c.(2344-2346)atC>atT	p.I782I	MYH10_uc002gll.3_Silent_p.I751I|MYH10_uc010cnx.3_Silent_p.I760I	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	751	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTAAAGCCCGGATCTAAGAGA	0.348000														33			28		0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6590866	6590866	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:6590866G>A	uc002gdj.3	-	10	1645	c.1557C>T	c.(1555-1557)caC>caT	p.H519H	SLC13A5_uc010clq.3_Silent_p.H476H|SLC13A5_uc002gdk.3_Silent_p.H502H|SLC13A5_uc010vtf.2_Intron	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	519						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CAACCTTGAGGTGCCCATAGG	0.498000														66			36		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127685093	127685093	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:127685093G>A	uc003kuu.3	-	22	3374	c.2935C>T	c.(2935-2937)Cat>Tat	p.H979Y	FBN2_uc003kuv.2_Missense_Mutation_p.H946Y	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	979	EGF-like 14; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACTCGCAATGAAAAGATCCC	0.478000														37			22		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106124535	106124535	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106124535G>A	uc001kyh.3	+	3	619	c.485G>A	c.(484-486)aGa>aAa	p.R162K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	162								p.E161K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACAAAGGAGAGAGACCAGCTC	0.458000														60			22		0	0	1	0	0
TNFSF9	8744	broad.mit.edu	37	19	6534669	6534669	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6534669C>T	uc002mfh.2	+	2	395	c.357C>T	c.(355-357)tcC>tcT	p.S119S		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	119					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CAGGCGTGTCCCTGACGGGGG	0.592000														13			5		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433422	140433422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140433422G>A	uc003lik.1	+	0	2444	c.2367G>A	c.(2365-2367)atG>atA	p.M789I		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	789					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGATAAAAATGGAGGCTGGCT	0.448000														98			40		0	0	1	0	0
SPI1	6688	broad.mit.edu	37	11	47380496	47380496	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:47380496G>A	uc001nfb.1	-	3	618	c.395C>T	c.(394-396)tCa>tTa	p.S132L	SPI1_uc001nfc.1_Missense_Mutation_p.S131L|SLC39A13_uc001nfd.3_Intron|SPI1_uc009ylp.1_Missense_Mutation_p.S125L	NM_001080547	NP_001074016	P17947	SPI1_HUMAN	Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA.	131					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	RNA binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		CTCCTCATCTGAGCTGGGCTG	0.692000														4			5		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48139140	48139140	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:48139140G>A	uc002efc.1	-	18	2929	c.2583C>T	c.(2581-2583)ttC>ttT	p.F861F	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	861	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ACACCAGCATGAACACCATGC	0.572000														58			27		0	0	1	0	0
EIF2D	1939	broad.mit.edu	37	1	206778857	206778857	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:206778857G>A	uc001heh.2	-	4	635	c.426C>T	c.(424-426)gcC>gcT	p.A142A	EIF2D_uc009xbw.2_Silent_p.A142A|EIF2D_uc010prw.1_Missense_Mutation_p.P128S	NM_006893	NP_008824	P41214	EIF2D_HUMAN	Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA.	142	PUA.				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGGCTACAGGGGCTCTAAGAA	0.512000														25			9		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94288954	94288954	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:94288954A>G	uc003kkx.2	-	2	950	c.950T>C	c.(949-951)gTt>gCt	p.V317A	MCTP1_uc003kkv.2_Missense_Mutation_p.V96A|MCTP1_uc003kkw.2_Missense_Mutation_p.V96A|MCTP1_uc003kkz.2_5'UTR	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	317	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AAGATGATCAACCAGAATACA	0.353000														25			6		0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61231327	61231327	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61231327G>A	uc010xeo.2	+	4	679	c.679G>A	c.(679-681)Gtg>Atg	p.V227M	SERPINB12_uc010xen.2_Missense_Mutation_p.V207M	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	207			K -> E (in dbSNP:rs35582068).		negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TGAAAACACGGTGGATGCACC	0.408000														95			8		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51383417	51383417	+	Silent	SNP	G	A	A	rs139544303		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:51383417G>A	uc001wyu.3	-	8	1162	c.1035C>T	c.(1033-1035)ctC>ctT	p.L345L	PYGL_uc010tqq.2_Silent_p.L311L|PYGL_uc010anz.1_Silent_p.L148L	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	345				AL -> RI (in Ref. 1; AAA52577).	glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CAGGGATCGCGAGTGCAGGGT	0.483000														73			39		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51220090	51220090	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51220090G>A	uc002psx.1	-	0	106	c.87C>T	c.(85-87)tcC>tcT	p.S29S		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	29					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCCCGTCTGGGGAGCTGTCGG	0.711000														6			10		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666901	12666901	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:12666901C>T	uc002gno.2	+	13	3200	c.2901C>T	c.(2899-2901)ttC>ttT	p.F967F	MYOCD_uc002gnn.2_Silent_p.F919F|MYOCD_uc002gnq.2_Silent_p.F643F	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	919					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACATCGATTTCCTGGATGTCA	0.517000														26			17		0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173883494	173883494	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:173883494G>A	uc002uhv.4	+	21	2306	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K	RAPGEF4_uc002uhw.4_Missense_Mutation_p.E563K	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	707					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity	p.G706R(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GGGCTCCGGGGAGGGCCTGAT	0.502000														100			19		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21236075	21236075	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21236075C>T	uc002red.3	-	24	4301	c.4173G>A	c.(4171-4173)atG>atA	p.M1391I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1391					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.H1390N(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)	AGTCAGCCTTCATGTGGTAAC	0.532000														120			58		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20856143	20856143	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20856143G>A	uc001vxe.3	-	17	2645	c.2605C>T	c.(2605-2607)Cca>Tca	p.P869S	TEP1_uc010ahk.3_Missense_Mutation_p.P219S|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.P761S	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	869					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTCTTTCCTGGGGGTGGTGGA	0.512000														61			21		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771847	143771847	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143771847G>A	uc011ktx.2	+	0	535	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CTTTTTCTGTGAAATTATGGC	0.463000														161			65		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152647133	152647133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:152647133G>A	uc021zhb.1	-	77	15621	c.15398C>T	c.(15397-15399)tCg>tTg	p.S5133L	SYNE1_uc003qot.4_Missense_Mutation_p.S5062L|SYNE1_uc003qou.4_Missense_Mutation_p.S5133L|SYNE1_uc010kiz.3_Missense_Mutation_p.S888L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5133					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.T5132S(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGACTAGACGAAGTCTTCAA	0.348000										HNSCC(10;0.0054)				28			22		0	0	1	0	0
VSX2	338917	broad.mit.edu	37	14	74726416	74726416	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:74726416C>T	uc001xpq.3	+	3	781	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S		NM_182894	NP_878314	P58304	VSX2_HUMAN	Homo sapiens visual system homeobox 2 (VSX2), mRNA.	231	CVC.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GCACTCCATCCCCCTGCCCGA	0.647000														62			21		0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266583	107266583	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107266583T>C	uc011lvm.2	+	0	40	c.40T>C	c.(40-42)Ttc>Ctc	p.F14L		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTATTTTTCTTCCTGGGATT	0.383000														70			10		0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131476552	131476552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131476552C>T	uc004bvw.3	+	10	1782	c.1389C>T	c.(1387-1389)ccC>ccT	p.P463P	PKN3_uc010myh.3_Silent_p.P463P|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	463	Pro-rich.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						ACCTGCTGCCCCCCTGCAGCT	0.647000														124			48		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720094	140720094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140720094C>T	uc003ljk.2	+	0	1741	c.1556C>T	c.(1555-1557)tCc>tTc	p.S519F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.S519F	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	521	Cadherin 5.				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)			GCACTGCGCTCCTTTGATTAT	0.507000														117			68		0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24436349	24436349	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:24436349G>A	uc002kwa.3	-	4	861	c.798C>T	c.(796-798)ttC>ttT	p.F266F	AQP4_uc002kvz.3_Silent_p.F244F	NM_001650	NP_001641	P55087	AQP4_HUMAN	Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA.	266					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CAGCTTTGCTGAAGGCTTCTT	0.488000														266			62		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94899510	94899510	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:94899510G>A	uc002btj.3	+	7	1215	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	MCTP2_uc010urg.1_Missense_Mutation_p.D384N|MCTP2_uc002bti.2_Missense_Mutation_p.D384N|MCTP2_uc010boj.3_Missense_Mutation_p.D113N|MCTP2_uc010bok.3_Missense_Mutation_p.D384N|MCTP2_uc002btk.4_5'UTR|MCTP2_uc002btl.3_5'UTR	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	384	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAAACTGGGAGATCAGAGGTA	0.333000														66			57		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94716543	94716543	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94716543C>T	uc001ycs.1	+	14	1800	c.1646C>T	c.(1645-1647)aCt>aTt	p.T549I		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	549						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.R548Q(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GCTTCACGAACTCTATGCATT	0.348000														54			27		0	0	1	0	0
OTC	5009	broad.mit.edu	37	X	38262948	38262948	+	Missense_Mutation	SNP	G	A	A	rs72558413		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:38262948G>A	uc004def.4	+	5	832	c.618G>A	c.(616-618)atG>atA	p.M206I		NM_000531	NP_000522	P00480	OTC_HUMAN	Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	206			M -> I (in OTCD).|M -> R (in OTCD; neonatal).		arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CCATCATGATGAGCGCAGCGA	0.483000														21			29		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096187	167096187	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167096187G>A	uc001geb.1	+	4	1835	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	607					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAACAAGGAGGAGGTGGTGGA	0.612000														30			5		0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378681	114378682	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:114378681_114378682CC>TT	uc003pwg.4	-	1	812_813	c.780_781GG>AA	c.(778-783)acggaa>acAAaa	p.E261K	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Missense_Mutation_p.E261K	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	261					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GGCAGAGGTTCCGTGATGAGGC	0.431000														43			22		0	0	1	0	0
DECR2	26063	broad.mit.edu	37	16	461033	461033	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:461033C>T	uc002chb.3	+	6	724	c.618C>T	c.(616-618)ctC>ctT	p.L206L	DECR2_uc002chc.3_Silent_p.L122L|DECR2_uc002chd.3_Silent_p.L122L|DECR2_uc002che.1_Non-coding_Transcript	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.	206						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				TCAACAGCCTCGCCCCTGGCC	0.642000														11			4		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165179939	165179939	+	Silent	SNP	C	T	T	rs146395249	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:165179939C>T	uc001gcz.2	-	5	938	c.744G>A	c.(742-744)gcG>gcA	p.A248A	LMX1A_uc021pdz.1_Silent_p.A248A|LMX1A_uc021pdy.1_5'UTR|LMX1A_uc001gcw.2_5'UTR	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	248	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AGGTTACCTTCGCTCTCTGGT	0.473000														40			20		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71479591	71479591	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:71479591G>A	uc003kbw.4	+	2	549	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	MAP1B_uc010iyw.1_Missense_Mutation_p.R103Q|MAP1B_uc010iyx.1_5'UTR|MAP1B_uc010iyy.1_5'UTR	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	103						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTTCATCACCGAAGTGACGTT	0.493000														92			31		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104898241	104898241	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:104898241G>A	uc003yls.3	+	1	989	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	RIMS2_uc003ylp.3_Missense_Mutation_p.E472K|RIMS2_uc003ylw.2_Missense_Mutation_p.E280K|RIMS2_uc003ylq.3_Missense_Mutation_p.E280K|RIMS2_uc003ylr.3_Missense_Mutation_p.E280K	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	503					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.L249P(1)		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)			AACAAAACGGGAAAAAATGGA	0.448000										HNSCC(12;0.0054)				45			14		0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10155574	10155574	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:10155574C>T	uc021ogc.1	+	2	955	c.267C>T	c.(265-267)ccC>ccT	p.P89P	UBE4B_uc001aqs.4_Silent_p.P89P|UBE4B_uc001aqr.4_Silent_p.P89P|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	89					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCAGCTCGCCCTCTAATAGCC	0.468000														101			8		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26743814	26743814	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26743814G>A	uc003acb.3	+	10	2538	c.2342G>A	c.(2341-2343)gGg>gAg	p.G781E	SEZ6L_uc003acd.3_Missense_Mutation_p.G781E|SEZ6L_uc011akd.2_Missense_Mutation_p.G781E|SEZ6L_uc003ace.3_Missense_Mutation_p.G781E|SEZ6L_uc011akc.2_Missense_Mutation_p.G781E|SEZ6L_uc003acc.3_Missense_Mutation_p.G781E|SEZ6L_uc003acf.1_Missense_Mutation_p.G554E|SEZ6L_uc010gvc.1_Missense_Mutation_p.G554E|SEZ6L_uc011ake.2_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	781	Sushi 3.					endoplasmic reticulum membrane|integral to membrane		p.V780M(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GACATCGTGGGGAGTGACACC	0.557000														91			35		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125140818	125140818	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125140818C>T	uc004bmg.1	+	3	453	c.318C>T	c.(316-318)ttC>ttT	p.F106F	PTGS1_uc011lys.1_Silent_p.F81F|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Silent_p.F106F|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	106					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	ATGCCACCTTCATCCGAGAGA	0.602000														54			15		0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141952422	141952422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141952422G>A	uc003vxb.3	-	3	766	c.446C>T	c.(445-447)cCc>cTc	p.P149L	PRSS58_uc003vxc.4_Missense_Mutation_p.P149L	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	149	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CAGTGAATCGGGCTCTTTGTC	0.373000														87			35		0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18149669	18149669	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:18149669G>A	uc001bat.3	+	1	382	c.166G>A	c.(166-168)Gac>Aac	p.D56N		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	56						cytoplasm|cytoskeleton		p.D56Y(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCTGGGCATCGACATTTGCCA	0.572000														106			56		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681119	100681119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100681119C>T	uc003uxp.1	+	2	6475	c.6422C>T	c.(6421-6423)tCa>tTa	p.S2141L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2141	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGTCAGTTCATCTCCTATA	0.502000														368			117		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98058822	98058822	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:98058822G>A	uc001drv.3	-	9	1217	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	360					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGAAGACGATGAACACACGGC	0.458000														132			44		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46246393	46246393	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:46246393C>T	uc001ros.1	+	14	4487	c.4487C>T	c.(4486-4488)tCt>tTt	p.S1496F	ARID2_uc001ror.3_Missense_Mutation_p.S1496F|ARID2_uc009zkg.1_Missense_Mutation_p.S952F|ARID2_uc009zkh.1_Missense_Mutation_p.S1123F|ARID2_uc001rou.1_Missense_Mutation_p.S830F	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1496					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTATCCCATTCTCCTGCCCTA	0.468000			"""N, S, F"""		hepatocellular carcinoma									112			31		0	0	1	0	0
DNAJC3	5611	broad.mit.edu	37	13	96361519	96361519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:96361519C>T	uc001vmq.3	+	1	238	c.121C>T	c.(121-123)Ctt>Ttt	p.L41F	DNAJC3_uc001vmp.3_Missense_Mutation_p.L41F	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 3 (DNAJC3), mRNA.	41					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			TGAGAAACATCTTGAATTGGG	0.353000														78			24		0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177146484	177146484	+	Missense_Mutation	SNP	C	T	T	rs144171323		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:177146484C>T	uc003iuq.2	-	1	319	c.205G>A	c.(205-207)Gca>Aca	p.A69T	ASB5_uc003iup.2_Missense_Mutation_p.A16T	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	69					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GATCGATCTGCCCAGGAACCT	0.343000														78			29		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24454270	24454270	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:24454270C>T	uc003ned.1	-	13	1419	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	GPLD1_uc010jpr.1_Silent_p.E273E|GPLD1_uc010jps.1_Silent_p.E436E	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	436						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TCCTGTGGGCCTCCTTGTCCA	0.567000														85			29		0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49248976	49248976	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49248976C>T	uc002pkj.3	-	1	689	c.141G>A	c.(139-141)gcG>gcA	p.A47A	IZUMO1_uc010eme.3_Non-coding_Transcript|IZUMO1_uc010emf.3_Non-coding_Transcript	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	Homo sapiens izumo sperm-egg fusion 1 (IZUMO1), mRNA.	47					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TGTGATGCTTCGCATCCAGGT	0.532000														106			47		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128797335	128797335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:128797335G>A	uc003kvb.1	+	1	614	c.614G>A	c.(613-615)gGg>gAg	p.G205E	ADAMTS19_uc003kvc.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	205	Pro-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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)		GGCCCCACGGGGGCAGCATCC	0.701000														29			12		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14367010	14367010	+	Silent	SNP	C	T	T	rs141984882		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:14367010C>T	uc003jff.3	+	15	2802	c.2796C>T	c.(2794-2796)gcC>gcT	p.A932A	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Silent_p.A883A|TRIO_uc003jfh.1_Silent_p.A581A	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	932					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGTTAAATGCCGGACTTATCA	0.552000														92			17		0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19580865	19580865	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19580865C>T	uc002dgn.2	+	2	552	c.237C>T	c.(235-237)ctC>ctT	p.L79L	C16orf62_uc002dgo.2_Silent_p.L168L|C16orf62_uc010vas.2_Non-coding_Transcript|C16orf62_uc002dgm.2_Silent_p.L168L	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	79						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CTGACCCCCTCTCCATGTTTG	0.612000														50			7		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181705452	181705452	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181705452G>A	uc009wxt.3	+	21	3499	c.3304G>A	c.(3304-3306)Gca>Aca	p.A1102T	CACNA1E_uc001gow.3_Missense_Mutation_p.A1102T|CACNA1E_uc009wxs.3_Missense_Mutation_p.A1083T|CACNA1E_uc001gox.1_Missense_Mutation_p.A328T	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1102					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						CTTGAAGGAGGCAGAGATCAG	0.498000														13			9		0	0	1	0	0
MARC1	64757	broad.mit.edu	37	1	220970064	220970065	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:220970064_220970065CC>TT	uc001hmt.3	+	2	777_778	c.529_530CC>TT	c.(529-531)ccc>TTc	p.P177F	MARC1_uc001hms.3_Missense_Mutation_p.P177F	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA.	177							molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GAAGTCACAGCCCTACCGCCTG	0.604000														35			12		0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43921516	43921516	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:43921516G>A	uc003tiw.3	-	3	210	c.153C>T	c.(151-153)ttC>ttT	p.F51F	URGCP_uc022acg.1_Silent_p.F42F|URGCP_uc003tiu.3_Silent_p.F8F|URGCP_uc003tiv.3_5'UTR|URGCP_uc003tix.3_Silent_p.F42F|URGCP_uc003tiy.3_Silent_p.F8F|URGCP_uc003tiz.3_Silent_p.F8F|URGCP_uc011kbj.2_Silent_p.F8F	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	51					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ctccataacggaactcgcaat	0.398000														183			83		0	0	1	0	0
ACTR2	10097	broad.mit.edu	37	2	65482733	65482733	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:65482733C>T	uc002sdp.3	+	6	870	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	ACTR2_uc010yqf.1_Missense_Mutation_p.R159C|ACTR2_uc002sdq.3_Missense_Mutation_p.R214C|ACTR2_uc010yqg.2_Missense_Mutation_p.R162C	NM_001005386	NP_001005386	P61160	ARP2_HUMAN	Homo sapiens ARP2 actin-related protein 2 homolog (yeast) (ACTR2), transcript variant 1, mRNA.	214					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	ATP binding|actin binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						TGAAACGGTTCGCATGATTAA	0.373000														102			46		0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133789762	133789762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:133789762C>T	uc011ecs.2	+	10	1179	c.863C>T	c.(862-864)tCa>tTa	p.S288L	EYA4_uc011ecq.2_Missense_Mutation_p.S234L|EYA4_uc011ecr.2_Missense_Mutation_p.S234L|EYA4_uc003qec.4_Missense_Mutation_p.S288L|EYA4_uc003qed.4_Missense_Mutation_p.S288L|EYA4_uc003qee.4_Missense_Mutation_p.S265L|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	288					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TATTCAGCATCAACGTATGGA	0.413000														68			47		0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60463381	60463381	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:60463381C>T	uc001czs.2	-	10	1488	c.1380G>A	c.(1378-1380)gtG>gtA	p.V460V	C1orf87_uc001czr.1_Silent_p.V52V	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	460							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CAGCTGGATTCACGAAGGGCT	0.502000														53			22		0	0	1	0	0
WBSCR27	155368	broad.mit.edu	37	7	73254755	73254755	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:73254755G>A	uc003tzj.2	-	3	417	c.377C>T	c.(376-378)cCc>cTc	p.P126L	WBSCR27_uc011kfd.1_Intron	NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN	Homo sapiens Williams Beuren syndrome chromosome region 27 (WBSCR27), mRNA.	126										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				TTCCGGGCTGGGCAGAGGCTC	0.652000														10			8		0	0	1	0	0
GAST	2520	broad.mit.edu	37	17	39872043	39872043	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39872043G>A	uc002hxl.3	+	2	292	c.225G>A	c.(223-225)aaG>aaA	p.K75K	JUP_uc010wfs.2_Intron	NM_000805	NP_000796	P01350	GAST_HUMAN	Homo sapiens gastrin (GAST), mRNA.	75		Cleavage.				extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CGTCCAAGAAGCAGGGACCAT	0.557000														50			38		0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46937265	46937265	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:46937265C>T	uc010acl.3	-	5	1515	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	KIAA0226L_uc001vbf.4_Missense_Mutation_p.E237K|KIAA0226L_uc010tfz.2_Missense_Mutation_p.E147K|KIAA0226L_uc010acn.3_Missense_Mutation_p.E89K|KIAA0226L_uc010acm.3_Missense_Mutation_p.E169K|KIAA0226L_uc001vbe.4_Missense_Mutation_p.E304K|KIAA0226L_uc001vbh.4_Missense_Mutation_p.E304K|KIAA0226L_uc001vbi.4_Missense_Mutation_p.E147K|KIAA0226L_uc010aco.1_Missense_Mutation_p.E304K	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	304										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ATAACAAATTCATCAACATCG	0.423000														38			9		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54780682	54780682	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54780682G>A	uc002qfb.3	-	9	1728	c.1462C>T	c.(1462-1464)Cag>Tag	p.Q488*	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Nonsense_Mutation_p.Q488*|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Nonsense_Mutation_p.Q487*|LILRB2_uc010yet.2_Nonsense_Mutation_p.Q372*	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	488					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.R487R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTTTGCCCTGACGTCGATGT	0.607000														175			33		0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89827573	89827573	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:89827573C>T	uc003hse.1	-	5	1008	c.800G>A	c.(799-801)aGa>aAa	p.R267K	FAM13A_uc003hsf.1_Missense_Mutation_p.R58K|FAM13A_uc003hsh.1_Missense_Mutation_p.R81K	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	267					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTCTAAGCCTCTTGTTAAAAG	0.368000														417			167		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209807842	209807842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:209807842G>A	uc001hhg.3	-	4	904	c.514C>T	c.(514-516)Cgg>Tgg	p.R172W	LAMB3_uc009xco.3_Missense_Mutation_p.R172W|LAMB3_uc001hhh.3_Missense_Mutation_p.R172W|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Intron	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	172	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GACTGGCACCGAACATCCTGC	0.602000														83			34		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222037	140222037	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140222037C>T	uc003lhs.2	+	0	1131	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L	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_uc003lhr.1_Silent_p.L377L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	392	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)			TGAACGACCTCGATTCAGGTG	0.517000														112			53		0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75563921	75563921	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75563921G>A	uc001xrl.3	-	16	2209	c.2055C>T	c.(2053-2055)acC>acT	p.T685T	NEK9_uc001xrk.3_Silent_p.T185T	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	685					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TCTCTGTGGGGGTCATTGCCA	0.498000														39			23		0	0	1	0	0
PRKCI	5584	broad.mit.edu	37	3	170020883	170020883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:170020883C>T	uc003fgs.2	+	17	1997	c.1759C>T	c.(1759-1761)Cct>Tct	p.P587S	PRKCI_uc003fgt.2_Missense_Mutation_p.P142S	NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	587	AGC-kinase C-terminal.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GTATATCAATCCTCTTTTGAT	0.333000														81			33		0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57860961	57860961	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:57860961C>T	uc003hcl.1	+	4	548	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	POLR2B_uc011cae.1_Missense_Mutation_p.R162C|POLR2B_uc011caf.1_Missense_Mutation_p.R94C	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	169					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CTTGACAGATCGTGATCTTTG	0.338000														78			41		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187542889	187542889	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187542889G>A	uc003izf.3	-	9	5039	c.4851C>T	c.(4849-4851)ggC>ggT	p.G1617G		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1617	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTTTAATAGAGCCCAAGACAG	0.368000										HNSCC(5;0.00058)				16			6		0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36124361	36124361	+	Missense_Mutation	SNP	G	A	A	rs139182630		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:36124361G>A	uc003jkb.1	-	6	1169	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	252						integral to membrane		p.R252C(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCACTTTACGAACCTCCTAT	0.279000														43			15		0	0	1	0	0
DMC1	11144	broad.mit.edu	37	22	38962607	38962607	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38962607C>T	uc003avz.1	-	3	406	c.231G>A	c.(229-231)gcG>gcA	p.A77A	DMC1_uc011anv.1_Silent_p.A77A|DMC1_uc003awa.1_Silent_p.A77A	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	77					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TTAGTTTGTTCGCTGCCTCTT	0.378000								Homologous recombination						51			17		0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43678790	43678790	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:43678790C>T	uc001jan.3	+	7	1764	c.1429C>T	c.(1429-1431)Ccg>Tcg	p.P477S		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	477					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GATTCGGACTCCGGTTCCTGG	0.478000														165			78		0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176820706	176820706	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176820706C>T	uc003mgk.4	+	8	1052	c.948C>T	c.(946-948)tcC>tcT	p.S316S		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	316					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCCACCTCCATGTCCAGAG	0.552000														86			22		0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39522755	39522755	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39522755C>T	uc002hwl.3	-	2	600	c.555G>A	c.(553-555)gaG>gaA	p.E185E		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	185	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				ACAGCAGCTCCTCCTTCAGGG	0.567000														76			6		0	0	1	0	0
RNASE1	6035	broad.mit.edu	37	14	21269835	21269835	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21269835C>T	uc021rop.1	-	0	393	c.393G>A	c.(391-393)gaG>gaA	p.E131E	RNASE1_uc001vyf.3_Silent_p.E131E|RNASE1_uc001vyg.3_Silent_p.E131E|RNASE1_uc001vyh.3_Silent_p.E131E|RNASE1_uc001vyi.3_Silent_p.E131E	NM_198235	NP_937878	P07998	RNAS1_HUMAN	Homo sapiens ribonuclease, RNase A family, 1 (pancreatic) (RNASE1), transcript variant 1, mRNA.	131						extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		TGATGTGTCTCTCCTTCGGGC	0.557000														99			49		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956173	18956173	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:18956173G>A	uc001mpg.3	-	0	377	c.159C>T	c.(157-159)ggC>ggT	p.G53G		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	53					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCATGCGGCAGCCCAGGAGCC	0.562000														140			61		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71444949	71444949	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:71444949C>T	uc001xmo.2	+	5	2341	c.1895C>T	c.(1894-1896)tCc>tTc	p.S632F	PCNX_uc001xmn.4_Missense_Mutation_p.S632F|PCNX_uc010are.1_Missense_Mutation_p.S632F	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	632	Ser-rich.					integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ACTTCTCATTCCTGTCAGTCT	0.463000														88			19		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117232173	117232173	+	Missense_Mutation	SNP	C	T	T	rs143723757		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:117232173C>T	uc003pxm.3	+	6	811	c.748C>T	c.(748-750)Ctt>Ttt	p.L250F		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	250					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CGCTCAACACCTTGTATACCA	0.373000														82			28		0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43893672	43893672	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43893672C>T	uc001zsf.3	-	23	4701	c.4623G>A	c.(4621-4623)cgG>cgA	p.R1541R	STRC_uc010bdl.3_Silent_p.R768R|STRC_uc001zse.3_Silent_p.R59R	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1541					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CCTGTAGTTCCCGATCTCCTA	0.552000														83			37		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28654727	28654727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28654727G>A	uc002kwl.4	-	11	2264	c.1810C>T	c.(1810-1812)Cat>Tat	p.H604Y	DSC2_uc002kwk.4_Missense_Mutation_p.H604Y	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	604	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GGTGGGCCATGGATAGGCTCA	0.413000														37			17		0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649612	75649612	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:75649612C>T	uc004ecm.2	+	0	1567	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	430						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TCCAAGTGTTCCCTTGTTTTG	0.572000														20			10		0	0	1	0	0
METTL24	728464	broad.mit.edu	37	6	110620340	110620340	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:110620340C>T	uc010kdu.1	-	3	571	c.571G>A	c.(571-573)Gat>Aat	p.D191N	METTL24_uc003pub.2_5'UTR	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN	Homo sapiens chromosome 6 open reading frame 186 (C6orf186), mRNA.	191						extracellular region											AAATGGGTATCATCACTTCCT	0.433000														40			32		0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079149	57079149	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:57079149G>A	uc003xsq.4	-	2	1607	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	PLAG1_uc003xsr.4_Missense_Mutation_p.P386S|PLAG1_uc010lyi.3_Missense_Mutation_p.P386S|PLAG1_uc010lyj.3_Missense_Mutation_p.P304S|PLAG1_uc022aur.1_Missense_Mutation_p.P304S	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	386	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P386H(1)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CCAATCTGAGGATCCAACCCT	0.483000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									110			36		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124989840	124989840	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:124989840G>A	uc003yqw.3	+	9	1260	c.1054G>A	c.(1054-1056)Gga>Aga	p.G352R		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	352						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CGAACAGGATGGAGACAAAGG	0.473000														25			12		0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687851	68687851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:68687851C>T	uc001jmz.1	+	1	1727	c.1177C>T	c.(1177-1179)Ccc>Tcc	p.P393S	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Missense_Mutation_p.P393S	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	393						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGAGAGCAAACCCCCTTTGCC	0.597000														74			23		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7629892	7629892	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:7629892C>T	uc002cys.2	+	5	1372	c.384C>T	c.(382-384)ttC>ttT	p.F128F	RBFOX1_uc010buf.1_Silent_p.F128F|RBFOX1_uc002cyr.1_Silent_p.F127F|RBFOX1_uc002cyt.2_Silent_p.F128F|RBFOX1_uc010uxz.1_Silent_p.F171F|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Silent_p.F128F|RBFOX1_uc010uyb.1_Silent_p.F128F|RBFOX1_uc002cyw.2_Silent_p.F148F|RBFOX1_uc002cyy.2_Silent_p.F148F|RBFOX1_uc002cyx.2_Silent_p.F148F|RBFOX1_uc010uyc.1_Silent_p.F148F	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	128	RRM.				RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCTTCAGGTTCCGGGATCCGG	0.547000														51			22		0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450377	158450377	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158450377C>T	uc010pik.2	+	0	710	c.710C>T	c.(709-711)tCt>tTt	p.S237F	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ATCTGTGTTTCTTATCTCTGC	0.433000														112			29		0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46593050	46593050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46593050G>A	uc010hji.3	-	1	425	c.32C>T	c.(31-33)tCt>tTt	p.S11F	LRRC2_uc003cpu.4_Missense_Mutation_p.S11F	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	Homo sapiens leucine rich repeat containing 2 (LRRC2), mRNA.	11										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TCTGATGACAGAAATGTCGAA	0.413000														90			42		0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2931166	2931166	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:2931166C>T	uc011mhj.2	+	2	293	c.293C>T	c.(292-294)aCt>aTt	p.T98I		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	98						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AATGAAACGACTTTTGCCAAG	0.552000														28			46		0	0	1	0	0
LOC440518	440518	broad.mit.edu	37	19	22785278	22785278	+	RNA	SNP	G	A	A	rs141007327	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22785278G>A	uc002nqu.4	+	6		c.1454G>A								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		TGTGTGGGGGGACCCACCGGG	0.662000														15			7		0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70644918	70644918	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:70644918C>T	uc001jos.2	+	2	1453	c.1366C>T	c.(1366-1368)Cct>Tct	p.P456S	STOX1_uc001joq.3_Missense_Mutation_p.P346S|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Missense_Mutation_p.P346S	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	456						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CCCCAAGCTCCCTGCTACACA	0.478000														96			50		0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160915040	160915041	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160915040_160915041GG>AA	uc001fxd.3	-	7	925_926	c.867_868CC>TT	c.(865-870)ccccgt>ccTTgt	p.R290C	ITLN2_uc009wts.3_Missense_Mutation_p.R289C|ITLN2_uc010pju.2_Missense_Mutation_p.R207C	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	290					signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCACACTGACGGGGTTTGCCCT	0.530000														39			22		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004186	75004186	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:75004186C>T	uc004ecj.2	-	0	894	c.701G>A	c.(700-702)cGa>cAa	p.R234Q		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	234	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCAAGAATCGCATGCACAC	0.488000														26			25		0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048030	6048030	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6048030C>T	uc010qzw.2	-	0	942	c.905G>A	c.(904-906)cGg>cAg	p.R302Q		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTTTGGTCCGAACCCCATA	0.448000														82			8		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100200274	100200274	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:100200274G>A	uc001tge.2	-	3	994	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.R193C	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	193						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GTGTGCTTGCGAGTGTTGCAG	0.527000														59			16		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242003063	242003063	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242003063G>A	uc002wah.1	+	17	2431	c.2431G>A	c.(2431-2433)Ggg>Agg	p.G811R	SNED1_uc002wai.1_Missense_Mutation_p.G46R|SNED1_uc002waj.1_5'Flank|SNED1_uc002wak.3_5'Flank	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	811	EGF-like 12; calcium-binding (Potential).				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GAACCTCCCAGGGGCCTATGT	0.627000														14			3		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	425526	425526	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:425526G>A	uc003bot.3	+	18	2846	c.2204G>A	c.(2203-2205)aGg>aAg	p.R735K	CHL1_uc003bou.3_Missense_Mutation_p.R719K|CHL1_uc003bow.2_Missense_Mutation_p.R719K|CHL1_uc011asi.2_Missense_Mutation_p.R735K|BC065754_uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	719	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.R735S(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAAAACATAAGGGTTCAAGCC	0.353000														72			28		0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156496304	156496304	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156496304G>A	uc001fpf.3	-	37	4945	c.4870C>T	c.(4870-4872)Ctc>Ttc	p.L1624F		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1624					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCTTGTTGAGGAGGAAGATG	0.488000														52			13		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864654	131864654	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:131864654G>A	uc003vra.4	-	19	3895	c.3666C>T	c.(3664-3666)tcC>tcT	p.S1222S		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1222	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCATCCCCGGGGAGTACTCCA	0.647000														26			8		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31743967	31743967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31743967G>A	uc011dog.2	-	2	525	c.287C>T	c.(286-288)tCt>tTt	p.S96F	VWA7_uc003nxd.2_5'UTR|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	96						extracellular region											CCGCCGAGAAGAACCAGGTCC	0.592000														91			34		0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29640975	29640975	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29640975G>A	uc011dlw.2	-	3	1064	c.913C>T	c.(913-915)Cag>Tag	p.Q305*		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	221					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						ATGGGTGTCTGGAATTCAGCC	0.542000														132			53		0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90895665	90895665	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:90895665C>T	uc003ula.3	+	0	1883	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	490					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding	p.F490F(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGCGTGGCTTCGTGCTGGCGC	0.612000														188			75		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147236	26147236	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:26147236T>A	uc002dof.3	+	1	1430	c.1038T>A	c.(1036-1038)taT>taA	p.Y346*		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	346					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GGCTCCAGTATTTCCCCCTCT	0.542000														128			61		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230272018	230272018	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:230272018G>A	uc002vpv.3	-	9	1800	c.1653C>T	c.(1651-1653)agC>agT	p.S551S		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	551	EGF-like 9.|Follistatin-like.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CGTTCAGACAGCTGACGTTAG	0.532000														104			43		0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795252	142795252	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:142795252G>A	uc004fbz.3	-	1	1180	c.426C>T	c.(424-426)gaC>gaT	p.D142D		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	142										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCAGATGAGTCCAGGTCTT	0.522000														215			36		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158589991	158589991	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158589991C>T	uc001fst.1	-	43	6585	c.6386G>A	c.(6385-6387)aGg>aAg	p.R2129K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2129					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTCCAGGTCCTTTCCAGCAC	0.448000														103			20		0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080723	5080723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5080723G>A	uc010qyw.2	-	0	135	c.135C>T	c.(133-135)ttC>ttT	p.F45F		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GTAGAATAGTGAAGTTCCCTA	0.507000														57			11		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907641	12907641	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12907641C>T	uc010obf.2	-	1	728	c.502G>A	c.(502-504)Gga>Aga	p.G168R	LOC649330_uc009vno.2_Missense_Mutation_p.G168R	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	168							nucleic acid binding|nucleotide binding										TTGGAAGATCCCCGCTTTCCA	0.478000														508			102		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152383212	152383212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152383212C>T	uc001ezx.2	-	2	420	c.346G>A	c.(346-348)Gga>Aga	p.G116R		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	116					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTCTGTCCTTCGCCCAGC	0.617000														301			159		0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26789453	26789453	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:26789453G>A	uc001uqo.3	-	4	911	c.566C>T	c.(565-567)tCa>tTa	p.S189L	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Missense_Mutation_p.S189L|RNF6_uc001uqq.3_Missense_Mutation_p.S189L|RNF6_uc010tdk.2_Intron	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	189					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		AGGACTAGTTGACCTTTGTTG	0.403000														275			18		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187509969	187509969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187509969G>A	uc003izf.3	-	26	13732	c.13544C>T	c.(13543-13545)cCc>cTc	p.P4515L	FAT1_uc010isn.3_Missense_Mutation_p.P162L	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	4515					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGGGGCATGGGGTTCTCTACA	0.517000										HNSCC(5;0.00058)				57			20		0	0	1	0	0
GPR183	1880	broad.mit.edu	37	13	99947438	99947438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:99947438C>T	uc001vog.3	-	1	1136	c.962G>A	c.(961-963)aGg>aAg	p.R321K	UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR183_uc021rma.1_Missense_Mutation_p.R321K	NM_004951	NP_004942	P32249	GP183_HUMAN	Homo sapiens G protein-coupled receptor 183 (GPR183), mRNA.	321					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TTTCAGCATCCTCATAACCTT	0.403000														94			15		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143793092	143793092	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143793092G>A	uc011kty.2	+	0	892	c.892G>A	c.(892-894)Ggg>Agg	p.G298R		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AGAGGTGAAAGGGGCTCTAAA	0.463000														200			97		0	0	1	0	0
NCAPH2	29781	broad.mit.edu	37	22	50956060	50956060	+	Silent	SNP	C	T	T	rs150150677		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50956060C>T	uc003blx.4	+	3	443	c.321C>T	c.(319-321)agC>agT	p.S107S	NCAPH2_uc003blq.4_Silent_p.S107S|NCAPH2_uc003blv.3_Silent_p.S107S|NCAPH2_uc003blr.4_Silent_p.S107S	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	107					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGGTTGCCAGCTCCGGGGTCC	0.652000														74			26		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179504001	179504001	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179504001G>A	uc001gmo.3	+	24	3322	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K	AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.E863K|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	979	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						agaagagaaagaaaatcaaga	0.323000														71			8		0	0	1	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103599776	103599776	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:103599776G>A	uc001ymm.1	+	8	1754	c.1623G>A	c.(1621-1623)aaG>aaA	p.K541K	TNFAIP2_uc010awo.1_Intron|TNFAIP2_uc010txz.1_Silent_p.K210K|TNFAIP2_uc010tya.1_Silent_p.K24K	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	541					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			TGGTCCTCAAGACGGCCGAGC	0.632000														70			24		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120730	94120730	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:94120730C>T	uc003poe.3	-	2	562	c.321G>A	c.(319-321)agG>agA	p.R107R	EPHA7_uc003pof.3_Silent_p.R107R|EPHA7_uc011eac.2_Silent_p.R107R|EPHA7_uc003pog.4_Silent_p.R107R	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	107						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGTTACAATCCCTCAGGGTGA	0.408000														58			32		0	0	1	0	0
FPGS	2356	broad.mit.edu	37	9	130569509	130569509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130569509C>T	uc004bsg.1	+	5	573	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S	FPGS_uc004bsh.1_5'UTR|FPGS_uc011mal.1_Intron|FPGS_uc004bsi.1_Missense_Mutation_p.P125S	NM_004957	NP_004948	Q05932	FOLC_HUMAN	Homo sapiens folylpolyglutamate synthase (FPGS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	175					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	TGTCTCCATGCCCCCCTACTT	0.602000														109			41		0	0	1	0	0
AKR1E2	83592	broad.mit.edu	37	10	4879714	4879714	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:4879714G>A	uc001ihi.3	+	4	638	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	AKR1E2_uc010qam.1_Missense_Mutation_p.E136K|AKR1E2_uc001ihh.1_Missense_Mutation_p.E175K|AKR1E2_uc001ihj.3_Non-coding_Transcript|AKR1E2_uc001ihk.3_Missense_Mutation_p.E175K|AKR1E2_uc009xhw.3_Intron	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	Homo sapiens aldo-keto reductase family 1, member E2 (AKR1E2), mRNA.	175						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CTTCAACCATGAACAGCTTGA	0.507000														46			19		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931073	157931073	+	Nonsense_Mutation	SNP	G	A	A	rs142009346	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:157931073G>A	uc003wno.3	-	6	1166	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	PTPRN2_uc003wnp.3_Nonsense_Mutation_p.R332*|PTPRN2_uc003wnq.3_Nonsense_Mutation_p.R349*|PTPRN2_uc003wnr.3_Nonsense_Mutation_p.R311*|PTPRN2_uc011kwa.2_Nonsense_Mutation_p.R372*	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	349						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGGCTGCCTCGAGCTACTCCA	0.672000														80			33		0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	625222	625222	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:625222G>A	uc002lpf.1	-	3	911	c.855C>T	c.(853-855)ttC>ttT	p.F285F		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	285					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCTTCACCATGAATAACACAT	0.622000														77			27		0	0	1	0	0
IMPAD1	54928	broad.mit.edu	37	8	57890620	57890620	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:57890620G>A	uc003xte.4	-	2	921	c.635C>T	c.(634-636)tCc>tTc	p.S212F		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	Homo sapiens inositol monophosphatase domain containing 1 (IMPAD1), mRNA.	212						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				TGTATATTCGGAAAATGGCTT	0.338000														131			46		0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18648044	18648044	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:18648044G>A	uc002gul.3	+	0	719	c.487G>A	c.(487-489)Gag>Aag	p.E163K	FBXW10_uc002guj.3_Missense_Mutation_p.E163K|FBXW10_uc002guk.3_Missense_Mutation_p.E163K|FBXW10_uc010cqh.2_Missense_Mutation_p.E163K	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	163										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GTTTCTGAGAGAGGAGAACAA	0.493000														34			12		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41711165	41711165	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41711165C>T	uc002yyq.1	-	6	1840	c.1388G>A	c.(1387-1389)gGg>gAg	p.G463E	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	463	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GACCACGTTCCCCTCCGACGT	0.612000														54			27		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56436006	56436006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56436006C>T	uc010ygg.2	-	2	432	c.407G>A	c.(406-408)gGa>gAa	p.G136E		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	136							ATP binding	p.Q135_G136>H*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATCTTGGCATCCCTGGGTCTG	0.433000														90			32		0	0	1	0	0
CLCF1	23529	broad.mit.edu	37	11	67133074	67133074	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67133074C>T	uc001okq.3	-	2	407	c.211G>A	c.(211-213)Gag>Aag	p.E71K	LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.2_Missense_Mutation_p.E61K	NM_013246	NP_001159684	Q9UBD9	CLCF1_HUMAN	Homo sapiens cardiotrophin-like cytokine factor 1 (CLCF1), transcript variant 1, mRNA.	71					B cell differentiation|JAK-STAT cascade|cytokine-mediated signaling pathway|negative regulation of neuron apoptosis|positive regulation of B cell proliferation|positive regulation of astrocyte differentiation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			AAGTCTGGCTCGTTGAAAGGG	0.612000														82			31		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7527128	7527128	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7527128C>T	uc010sge.2	-	12	3375	c.3349G>A	c.(3349-3351)Gga>Aga	p.G1117R	CD163L1_uc001qsy.3_Missense_Mutation_p.G1107R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1107	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GACTCCATTCCTGTGCAGTTC	0.622000														71			34		0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231035380	231035380	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:231035380C>T	uc002vqg.3	-	17	2225	c.1985G>A	c.(1984-1986)cGa>cAa	p.R662Q	SP110_uc002vqh.3_Missense_Mutation_p.R638Q	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	638	Bromo.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		GCGCATGTCTCGCACAAACCA	0.443000														62			43		0	0	1	0	0
IL29	282618	broad.mit.edu	37	19	39787205	39787205	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39787205G>A	uc002okv.3	+	0	241	c.144G>A	c.(142-144)gcG>gcA	p.A48A		NM_172140	NP_742152	Q8IU54	IL29_HUMAN	Homo sapiens interleukin 29 (interferon, lambda 1) (IL29), mRNA.	48					defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of MHC class I biosynthetic process|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein	extracellular space|interleukin-28 receptor complex	cytokine activity|interleukin-28 receptor binding			endometrium(2)|lung(2)	4	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGGAGCTAGCGAGCTTCAAGA	0.582000														27			11		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226026	158226026	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158226026C>T	uc001frt.3	+	2	1091	c.558C>T	c.(556-558)ttC>ttT	p.F186F	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	186	Ig-like.				antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GCCCACGTTTCATCTTGGGTC	0.463000														86			24		0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43259928	43259928	+	Silent	SNP	G	A	A	rs140077118		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43259928G>A	uc002yzq.1	-	13	1884	c.1773C>T	c.(1771-1773)agC>agT	p.S591S	PRDM15_uc002yzo.3_Silent_p.S262S|PRDM15_uc002yzp.3_Silent_p.S262S|PRDM15_uc002yzr.1_Silent_p.S262S	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTGGAGGAAGGCTTTTGGCTT	0.602000														134			42		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370529	86370529	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:86370529C>T	uc001vll.1	-	1	574	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	SLITRK6_uc021rla.1_Missense_Mutation_p.E39K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	39	LRRNT 1.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CCATCTTTTTCCTCACAATTG	0.393000														130			31		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983578	97983578	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:97983578C>T	uc003dsi.1	+	0	450	c.450C>T	c.(448-450)gtC>gtT	p.V150V		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTTATCCAGTCATTATGACCA	0.363000														61			93		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26572089	26572089	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:26572089G>A	uc001rhg.3	-	49	7420	c.7003C>T	c.(7003-7005)Cgt>Tgt	p.R2335C	ITPR2_uc009zjg.1_Missense_Mutation_p.R486C	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2335					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.T2334P(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CGGTACCCACGGGTGAACGTG	0.433000														56			33		0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73749129	73749129	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73749129C>T	uc004ebt.2	+	4	1640	c.1474C>T	c.(1474-1476)Ctt>Ttt	p.L492F	SLC16A2_uc010nlr.1_Intron	NM_006517	NP_006508	P36021	MOT8_HUMAN	Homo sapiens solute carrier family 16, member 2 (monocarboxylic acid transporter 8) (SLC16A2), mRNA.	418						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	CGTCGTCTGTCTTTTCCTGGG	0.577000														11			15		0	0	1	0	0
NPTN	27020	broad.mit.edu	37	15	73862580	73862580	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:73862580G>A	uc002avs.3	-	5	1222	c.1025C>T	c.(1024-1026)cCt>cTt	p.P342L	NPTN_uc010bjc.3_Missense_Mutation_p.P342L|NPTN_uc002avt.3_Missense_Mutation_p.P226L|NPTN_uc002avr.3_Missense_Mutation_p.P226L|NPTN_uc010ula.2_Missense_Mutation_p.P137L	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	Homo sapiens neuroplastin (NPTN), transcript variant b, mRNA.	342					elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						TCCCAAGAAAGGCCAGAGTGG	0.527000														129			17		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62871152	62871152	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62871152G>A	uc002yii.3	+	21	3497	c.3133G>A	c.(3133-3135)Gag>Aag	p.E1045K	MYT1_uc002yij.3_Missense_Mutation_p.E704K	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	1045					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CATCGAGGAGGAGAACAAGCT	0.577000														76			28		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66883549	66883549	+	Silent	SNP	G	A	A	rs142750568		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:66883549G>A	uc002jhq.3	-	24	3583	c.3243C>T	c.(3241-3243)ttC>ttT	p.F1081F	ABCA8_uc002jhp.3_Silent_p.F1041F|ABCA8_uc010wqq.2_Silent_p.F1081F|ABCA8_uc010wqr.2_Silent_p.F1020F	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1041						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATATAAAAACGAAGACCAAGA	0.413000														210			53		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51975425	51975425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51975425C>T	uc002abh.3	+	3	594	c.191C>T	c.(190-192)cCa>cTa	p.P64L	SCG3_uc010ufz.2_5'UTR	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	64					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GAAAACAAGCCAGGTCAGAGC	0.338000														216			91		0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24811299	24811299	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24811299C>T	uc003xee.3	-	2	1282	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	394	Coil 2B.|Rod.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCCTCGCCTTCCAAGAGTTTC	0.532000														17			7		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70933619	70933619	+	Missense_Mutation	SNP	C	T	T	rs150844276	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70933619C>T	uc001swb.4	-	22	5060	c.5030G>A	c.(5029-5031)cGg>cAg	p.R1677Q	PTPRB_uc010sto.2_Missense_Mutation_p.R1587Q|PTPRB_uc010stp.2_Missense_Mutation_p.R1587Q|PTPRB_uc001swc.4_Missense_Mutation_p.R1895Q|PTPRB_uc001swa.4_Missense_Mutation_p.R1807Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1677					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1677W(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGAAGTTTTCCGGTTACTGTG	0.353000														85			22		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2375858	2375859	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:2375858_2375859CC>TT	uc002wfy.1	+	2	261_262	c.200_201CC>TT	c.(199-201)gcc>gTT	p.A67V	TGM6_uc010gal.1_Missense_Mutation_p.A67V	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	67					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCTTCTGAGGCCCTCCACACCA	0.584000														27			9		0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69093153	69093153	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:69093153C>T	uc002sez.1	-	1	1044	c.885G>A	c.(883-885)ggG>ggA	p.G295G		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	295					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						AAGCCTCTTCCCCAGGTCCAC	0.493000														65			18		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54803167	54803167	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54803167G>A	uc002qfd.3	-	3	602	c.510C>T	c.(508-510)tcC>tcT	p.S170S	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	169	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CATGGGAATGGGAGTTCAGGC	0.567000														105			55		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130845791	130845791	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:130845791G>A	uc001uik.3	+	14	2003	c.1732G>A	c.(1732-1734)Gat>Aat	p.D578N	PIWIL1_uc001uij.2_Missense_Mutation_p.D578N	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	578	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding	p.D578E(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CCTGTGTACAGATTGCCCTAC	0.433000														31			21		0	0	1	0	0
C17orf101	79701	broad.mit.edu	37	17	80361910	80361910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:80361910G>A	uc002ket.2	-	6	754	c.602C>T	c.(601-603)tCc>tTc	p.S201F	C17orf101_uc010dip.2_Non-coding_Transcript|C17orf101_uc002keu.2_Missense_Mutation_p.S201F	NM_175902	NP_787098	Q6PK18	CQ101_HUMAN	Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA.	201						integral to membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						ATGCAGCGAGGATGCGCTGAT	0.627000														8			4		0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090588	238090588	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:238090588G>A	uc010pyc.2	+	11		c.2094G>A								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		GCATTGTCAGGGACTCTGGAG	0.612000														30			9		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110439352	110439352	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110439352G>A	uc003yne.3	+	24	3071	c.2967G>A	c.(2965-2967)tgG>tgA	p.W989*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	989					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			ACATCAAATGGAGAAGCACCT	0.488000										HNSCC(38;0.096)				32			15		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4832579	4832579	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:4832579G>A	uc001alm.1	+	3	1538	c.1157G>A	c.(1156-1158)gGa>gAa	p.G386E	AJAP1_uc001aln.3_Missense_Mutation_p.G386E	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	386	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACATTTAATGGAAACCGGTAA	0.602000														25			13		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88476368	88476368	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:88476368C>T	uc002bme.2	-	15	2070	c.1764G>A	c.(1762-1764)gaG>gaA	p.E588E	NTRK3_uc002bmh.2_Silent_p.E580E|NTRK3_uc002bmf.2_Silent_p.E588E|NTRK3_uc021sua.1_Silent_p.E580E|NTRK3_uc010upl.1_Silent_p.E490E|NTRK3_uc010bnh.1_Silent_p.E580E	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	588	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCAGCTCGGCCTCCCTCTGGA	0.562000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				84			11		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55569084	55569084	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:55569084C>T	uc021pqw.1	-	35	5130	c.4735G>A	c.(4735-4737)Gaa>Aaa	p.E1579K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Missense_Mutation_p.E1574K|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					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)				TTATCTTCTTCCTCAAGGCGT	0.418000										HNSCC(58;0.16)				43			24		0	0	1	0	0
GGTLC2	91227	broad.mit.edu	37	22	22989341	22989341	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22989341C>T	uc010gts.2	+	1	328	c.294C>T	c.(292-294)ttC>ttT	p.F98F	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gtt.2_Silent_p.F98F	NM_199127	NP_954578	Q14390	GGTL2_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 2 (GGTLC2), transcript variant 1, mRNA.	98					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		CTGCCAATTTCATCCAGCCAG	0.612000														168			72		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54219328	54219328	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:54219328G>A	uc003pcj.2	+	8	1290	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	382					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCAAGTCCGTGAAGATTTCTT	0.338000														93			32		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561151	9561151	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9561151C>T	uc002wnl.2	-	4	1176	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	PAK7_uc002wnk.2_Missense_Mutation_p.E211K|PAK7_uc002wnj.2_Missense_Mutation_p.E211K|PAK7_uc010gby.1_Missense_Mutation_p.E211K	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	211	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCACTGTATTCACTTGGTTTG	0.483000														75			39		0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67051805	67051805	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67051805C>T	uc009yrn.1	+	17	1881	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	539					activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCTGGAGGCTCGCAAGAAAGC	0.627000														46			7		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89939785	89939785	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89939785G>A	uc003kju.3	+	13	2815	c.2719G>A	c.(2719-2721)Gat>Aat	p.D907N	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	907					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGCAAAGGAGATGCTATCTA	0.274000														19			5		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20442548	20442548	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20442548G>A	uc002dhe.3	+	9	1360	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	405					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCAGATTGTGGATGATGAGGG	0.552000														102			11		0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64738836	64738836	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:64738836G>A	uc002jfo.1	+	13	1587	c.1095G>A	c.(1093-1095)acG>acA	p.T365T	PRKCA_uc002jfp.1_Silent_p.T494T			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	494	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ATGGAGTCACGACCAGGACCT	0.483000														79			36		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124393367	124393367	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124393367G>A	uc003ehg.3	+	48	7226	c.7099G>A	c.(7099-7101)Gac>Aac	p.D2367N	KALRN_uc003ehi.3_Missense_Mutation_p.D707N|KALRN_uc003ehk.3_Missense_Mutation_p.D670N|KALRN_uc011bjz.2_Missense_Mutation_p.D458N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2366	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCCTGCCAGCGACCATTCCCC	0.597000														18			9		0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628817	71628817	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:71628817C>T	uc004agy.3	-	0	223	c.192G>A	c.(190-192)caG>caA	p.Q64Q		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	64	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CGCCGGTCTCCTGGTGCCTCA	0.607000														78			10		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13366056	13366056	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:13366056G>A	uc002mwy.3	-	28	4844	c.4608C>T	c.(4606-4608)ttC>ttT	p.F1536F	CACNA1A_uc002mwx.3_Silent_p.F242F|CACNA1A_uc010dzc.2_Silent_p.F1062F|CACNA1A_uc010xnd.2_Silent_p.F1539F|CACNA1A_uc021ups.1_Silent_p.F1536F|CACNA1A_uc010xne.2_Silent_p.F1539F|CACNA1A_uc010dze.2_Silent_p.F1536F|CACNA1A_uc021upt.1_Silent_p.F1537F|CACNA1A_uc002mwv.3_Silent_p.F53F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1537					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGCTGATGGCGAAATCAATGC	0.612000														16			4		0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115760190	115760190	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:115760190C>T	uc011lwy.2	-	4	1589	c.350G>A	c.(349-351)aGa>aAa	p.R117K		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AGTATGGATTCTCTCATGATT	0.383000														28			17		0	0	1	0	0
GNG4	2786	broad.mit.edu	37	1	235715446	235715446	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:235715446G>A	uc001hxe.4	-	3	645	c.191C>T	c.(190-192)cCc>cTc	p.P64L	GNG4_uc009xfz.3_Missense_Mutation_p.P64L|GNG4_uc001hxh.4_Missense_Mutation_p.P64L	NM_001098722	NP_004476	P50150	GBG4_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 4 (GNG4), transcript variant 1, mRNA.	64					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			CTCGCGAAAGGGGTTTTCTGA	0.522000														147			57		0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68732150	68732150	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:68732150G>T	uc002ewf.2	+	15	3469	c.2337G>T	c.(2335-2337)gtG>gtT	p.V779V	CDH3_uc010vli.1_Silent_p.V724V	NM_001793	NP_001784	P22223	CADH3_HUMAN	Homo sapiens cadherin 3, type 1, P-cadherin (placental) (CDH3), mRNA.	779					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCCTCTTGGTGTTCGACTATG	0.622000														92			37		2.05212e-20	2.06346e-20	1	1	0
ACAN	176	broad.mit.edu	37	15	89381960	89381960	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89381960C>T	uc010upo.1	+	2	511	c.137C>T	c.(136-138)tCc>tTc	p.S46F	ACAN_uc002bmx.3_Missense_Mutation_p.S46F|ACAN_uc010upp.1_Missense_Mutation_p.S46F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	46					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)			CTGGGGACCTCCCTCACCATC	0.622000														118			37		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467449	56467449	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56467449C>T	uc002qmh.3	+	2	2096	c.2025C>T	c.(2023-2025)agC>agT	p.S675S	NLRP8_uc010etg.3_Silent_p.S675S	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	675						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCAGCTCCAGCTCCCATCCTG	0.547000														78			28		0	0	1	0	0
IFNA6	3443	broad.mit.edu	37	9	21350466	21350466	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21350466G>A	uc011lni.2	-	0	421	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L		NM_021002	NP_066282	P05013	IFNA6_HUMAN	Homo sapiens interferon, alpha 6 (IFNA6), mRNA.	141					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CTCACAGCCAGGATGGAGTCC	0.493000														335			46		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240417	3240417	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:3240417C>T	uc004crg.4	-	4	3466	c.3309G>A	c.(3307-3309)atG>atA	p.M1103I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1103						extracellular region				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)				ACATACTGCTCATTATACCCA	0.483000														15			27		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15758113	15758113	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15758113T>A	uc010xok.2	+	4	554	c.504T>A	c.(502-504)aaT>aaA	p.N168K	CYP4F3_uc010xol.2_Missense_Mutation_p.N168K|CYP4F3_uc002nbj.3_Missense_Mutation_p.N168K|CYP4F3_uc010xom.2_Missense_Mutation_p.N19K|CYP4F3_uc002nbk.3_Missense_Mutation_p.N168K|CYP4F3_uc010xon.2_5'Flank	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	168					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AGATTTTCAATGAGAGTGTGA	0.507000														167			24		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8130997	8130997	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8130997C>T	uc002mjf.3	-	62	8253	c.8236G>A	c.(8236-8238)Gag>Aag	p.E2746K	FBN3_uc002mje.3_Missense_Mutation_p.E542K	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2746						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAACCTTGCTCGTTTCCGCGG	0.687000														91			30		0	0	1	0	0
DCD	117159	broad.mit.edu	37	12	55038536	55038536	+	Silent	SNP	G	A	A	rs139716642		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55038536G>A	uc001sgj.3	-	4	356	c.294C>T	c.(292-294)gcC>gcT	p.A98A	DCD_uc009znt.3_Missense_Mutation_p.R120C|DCD_uc009znu.3_Non-coding_Transcript	NM_053283	NP_444513	P81605	DCD_HUMAN	Homo sapiens dermcidin (DCD), mRNA.	98					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				CGTCATGGACGGCTCCTAGGA	0.488000														19			9		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48626890	48626890	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48626890G>A	uc003ctz.2	-	16	2185	c.2184C>T	c.(2182-2184)tcC>tcT	p.S728S		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	728	Fibronectin type-III 6.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAACCAACTGGGATTTCTCTG	0.622000														58			29		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77290750	77290750	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77290750C>T	uc003hkb.4	-	9	1329	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	392										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CCAGACTCAGCTCCTTCTCCC	0.443000														69			15		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171486848	171486848	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171486848C>T	uc010pmg.2	+	5	905	c.639C>T	c.(637-639)atC>atT	p.I213I	PRRC2C_uc001ghr.1_Silent_p.I215I	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	213							protein C-terminus binding										AAAATGATATCCTCAAAGTGG	0.498000														36			15		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884436	24884436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24884436C>T	uc001wpf.4	+	8	3799	c.3481C>T	c.(3481-3483)Cgc>Tgc	p.R1161C		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1161					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCTGCCCTTCCGCCTGGAGGT	0.647000														61			25		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207850802	207850802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207850802C>T	uc001hga.4	+	1	287	c.166C>T	c.(166-168)Ccc>Tcc	p.P56S	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	56	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CTTTGAGTTTCCCATTGGGAC	0.468000														126			41		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720077	146720077	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:146720077C>T	uc010khw.1	+	7	2372	c.1902C>T	c.(1900-1902)atC>atT	p.I634I	GRM1_uc010khv.1_Silent_p.I634I|GRM1_uc003qll.2_Silent_p.I634I|GRM1_uc011edz.1_Silent_p.I634I|GRM1_uc011eea.1_Silent_p.I634I	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	634					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCTACATCATCCTAGCTGGCA	0.522000														97			81		0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56525338	56525338	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56525338C>T	uc001sjr.3	+	5	910	c.792C>T	c.(790-792)ttC>ttT	p.F264F	ESYT1_uc001sjq.3_Silent_p.F264F	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	264						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CAATGTTCTTCATCCGACGCC	0.537000														140			49		0	0	1	0	0
RASSF8	11228	broad.mit.edu	37	12	26217491	26217491	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:26217491C>T	uc001rgx.3	+	2	390	c.164C>T	c.(163-165)cCt>cTt	p.P55L	RASSF8_uc001rgy.3_Missense_Mutation_p.P55L|RASSF8_uc001rgz.3_Missense_Mutation_p.P55L|RASSF8_uc009zjd.2_Missense_Mutation_p.P55L|RASSF8_uc009zje.2_Missense_Mutation_p.P55L	NM_001164748	NP_001158220	Q8NHQ8	RASF8_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 (RASSF8), transcript variant 3, mRNA.	55	Ras-associating.				signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					CACTTAGCACCTCATGAAAAT	0.428000														119			27		0	0	1	0	0
PDZD7	79955	broad.mit.edu	37	10	102789950	102789950	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:102789950G>A	uc001ksn.3	-	1	277	c.27C>T	c.(25-27)ttC>ttT	p.F9F	PDZD7_uc021pxc.1_Silent_p.F9F|PDZD7_uc001kso.2_Silent_p.F9F|SFXN3_uc001ksp.3_5'Flank|SFXN3_uc010qpx.2_5'Flank	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	9						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCAGTGGGTCGAAGCCCACTG	0.667000														16			4		0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148384332	148384333	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:148384332_148384333GG>AA	uc003lpu.3	-	16	3960_3961	c.3808_3809CC>TT	c.(3808-3810)ccc>TTc	p.P1270F	SH3TC2_uc003lpp.1_Intron|SH3TC2_uc010jgw.3_Missense_Mutation_p.P914F|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Missense_Mutation_p.P817F|SH3TC2_uc010jgx.3_Missense_Mutation_p.P1263F	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	1270							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCCGGAGGGCCTGCTGTGC	0.644000														23			9		0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	133119350	133119350	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:133119350G>A	uc010nrn.2	-	0	324	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	GPC3_uc004exe.2_Nonsense_Mutation_p.Q43*|GPC3_uc011mvh.2_Nonsense_Mutation_p.Q43*|GPC3_uc010nro.2_Nonsense_Mutation_p.Q43*|GPC3_uc010nrp.2_5'UTR	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	43						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TGCAGTCTCTGGAAGAAGGAG	0.692000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					6			7		0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71277022	71277022	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:71277022C>T	uc001oqt.1	+	0	414	c.389C>T	c.(388-390)tCc>tTc	p.S130F		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	130	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TGTGGGGGCTCCAAGGGGGGC	0.652000														180			48		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075287	9075287	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9075287G>A	uc002mkp.3	-	2	12363	c.12159C>T	c.(12157-12159)tcC>tcT	p.S4053S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4055	Ser-rich.|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						TTCTCTTAGAGGAGGTAATTT	0.502000														144			42		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196671484	196671484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196671484G>A	uc002utj.4	-	53	10257	c.10156C>T	c.(10156-10158)Cgt>Tgt	p.R3386C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3386			R -> H (in dbSNP:rs6708527).		ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R3386H(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTCAAGCAACGAATAATAAGC	0.393000														46			12		0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119509578	119509578	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:119509578C>T	uc003pym.1	-	10	2153	c.1711G>A	c.(1711-1713)Gcc>Acc	p.A571T		NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	571					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACCTCTACGGCTTCCCAGGCC	0.348000														89			43		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049851	69049851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:69049851C>T	uc010fdg.3	+	9	1999	c.1580C>T	c.(1579-1581)tCc>tTc	p.S527F	ARHGAP25_uc010yql.2_Missense_Mutation_p.S487F|ARHGAP25_uc002sew.3_Missense_Mutation_p.S519F|ARHGAP25_uc002sex.3_Missense_Mutation_p.S520F	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	526					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCCTGTGACTCCAAGGGAGAT	0.527000														110			61		0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99170840	99170840	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:99170840C>T	uc002syy.3	+	15	1862	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	INPP4A_uc010yvj.1_Missense_Mutation_p.S490L|INPP4A_uc010yvk.2_Missense_Mutation_p.S490L|INPP4A_uc002syx.3_Missense_Mutation_p.S485L|INPP4A_uc010fik.3_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	490					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TCTCCCACTTCGACTGAGGAG	0.602000														20			9		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307795	54307795	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54307795G>A	uc021smr.1	+	0	2695	c.2695G>A	c.(2695-2697)Gat>Aat	p.D899N	UNC13C_uc021sms.1_Missense_Mutation_p.D899N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	899					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)		TACTGAAACAGATGAACAAAT	0.378000														100			31		0	0	1	0	0
KRT17	3872	broad.mit.edu	37	17	39780712	39780712	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39780712G>A	uc002hxh.2	-	0	171	c.50C>T	c.(49-51)tCc>tTc	p.S17F	JUP_uc010wfs.2_Intron|KRT17_uc010wft.2_Missense_Mutation_p.S17F	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	17	Head.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CAGGCCGGAGGAGCCCTTGAT	0.716000														13			9		0	0	1	0	0
TFPI	7035	broad.mit.edu	37	2	188349653	188349653	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:188349653C>T	uc002upy.3	-	4	715	c.420G>A	c.(418-420)agG>agA	p.R140R	TFPI_uc002uqa.2_Silent_p.R140R|TFPI_uc002uqb.2_Silent_p.R140R	NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	140	BPTI/Kunitz inhibitor 2.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TATAAAAATACCTGGTAATAT	0.343000														63			7		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38750845	38750845	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38750845C>T	uc021yzh.1	+	16	2434	c.2325C>T	c.(2323-2325)tcC>tcT	p.S775S	DNAH8_uc003ooe.2_Silent_p.S558S	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACAAGATCTCCTATGTGCTGG	0.403000														55			24		0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120510351	120510351	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:120510351C>T	uc001txl.1	+	5	1151	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	CCDC64_uc001txk.2_Missense_Mutation_p.R376C|CCDC64_uc009zwv.1_Intron|CCDC64_uc010sze.1_Intron|CCDC64_uc010szf.1_Missense_Mutation_p.R25C	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA.	376					Golgi to secretory granule transport|neuron projection development	centrosome	Rab GTPase binding|dynactin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGCCAGGTTCGCTATCTGTG	0.522000														99			16		0	0	1	0	0
KBTBD5	131377	broad.mit.edu	37	3	42732372	42732372	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42732372C>T	uc003clv.1	+	4	1729	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	543										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCGAGGCCTTCCCACAGGAGC	0.622000														45			15		0	0	1	0	0
FXYD5	53827	broad.mit.edu	37	19	35657304	35657304	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35657304G>A	uc010xsq.2	+	7	651	c.563G>A	c.(562-564)gGt>gAt	p.G188D	FXYD5_uc002nyg.2_Intron|FXYD5_uc021usk.1_Intron|FXYD5_uc002nyh.2_Intron|FXYD5_uc021usl.1_Intron|FXYD5_uc002nyi.2_Intron|FXYD5_uc002nyj.1_5'Flank	NM_144779	NP_659003	Q96DB9	FXYD5_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 5 (FXYD5), transcript variant 1, mRNA.	0					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GTTCTCAAAGGTCCCTGGGCA	0.453000														49			5		0	0	1	0	0
MRPL51	51258	broad.mit.edu	37	12	6601548	6601548	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6601548G>A	uc001qom.2	-	2	445	c.276C>T	c.(274-276)atC>atT	p.I92I	NCAPD2_uc009zen.1_5'Flank|NCAPD2_uc001qoo.2_5'Flank|NCAPD2_uc010sfd.1_5'Flank	NM_016497	NP_057581	Q4U2R6	RM51_HUMAN	Homo sapiens mitochondrial ribosomal protein L51 (MRPL51), nuclear gene encoding mitochondrial protein, mRNA.	92					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TCCTCTTTCGGATACAACGTT	0.443000														283			88		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124740999	124740999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124740999C>T	uc001qbc.3	+	6	1292	c.1123C>T	c.(1123-1125)Cca>Tca	p.P375S		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	375	Ig-like C2-type 4.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGGAAACCCCCCACCTGCCAT	0.632000														53			11		0	0	1	0	0
TEX10	54881	broad.mit.edu	37	9	103109210	103109210	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:103109210G>A	uc004bas.3	-	2	874	c.659C>T	c.(658-660)tCt>tTt	p.S220F	TEX10_uc011lvf.2_Intron|TEX10_uc011lvg.2_Missense_Mutation_p.S223F|TEX10_uc011lvh.1_Missense_Mutation_p.S155F	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	220						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		CCATTGCTGAGAAGTGAGTCT	0.438000														79			16		0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26664512	26664512	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26664512C>T	uc001bmd.4	-	7	3648	c.3498G>A	c.(3496-3498)ggG>ggA	p.G1166G	AIM1L_uc001bmf.3_Silent_p.G12G	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	121							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCCTGGGCTCCCCTGGCTTCT	0.577000														15			9		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401959	10401959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10401959C>T	uc002gmo.3	-	29	4259	c.4165G>A	c.(4165-4167)Gag>Aag	p.E1389K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1389						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTCCAGCTCCTCTGTGCGC	0.478000														71			51		0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38121119	38121119	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:38121119G>A	uc001izd.1	-	5	1663	c.1164C>T	c.(1162-1164)acC>acT	p.T388T	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Silent_p.T388T	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TCTCCCAGAAGGTTTTCCCAC	0.443000														140			32		0	0	1	0	0
ZNF652	22834	broad.mit.edu	37	17	47390089	47390089	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:47390089G>A	uc002iov.4	-	2	1483	c.1019C>T	c.(1018-1020)aCc>aTc	p.T340I	ZNF652_uc002iow.3_Missense_Mutation_p.T340I|ZNF652_uc002iou.4_Non-coding_Transcript	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			ATGAGCCATGGTATAGAATTT	0.378000														54			16		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47274758	47274758	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:47274758G>A	uc002xtw.1	-	16	1913	c.1890C>T	c.(1888-1890)ccC>ccT	p.P630P	PREX1_uc002xtv.1_5'Flank	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	630	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCTCCTCCTGGGGCAGGATCT	0.672000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		268			31		0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150839020	150839020	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150839020C>T	uc003wjg.1	+	13	1843	c.1840C>T	c.(1840-1842)Ctc>Ttc	p.L614F	AGAP3_uc003wje.1_Missense_Mutation_p.L283F|AGAP3_uc003wjj.1_Missense_Mutation_p.L113F|AGAP3_uc003wjk.1_Missense_Mutation_p.L32F	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	578					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGTGGTGTCCCTCACTGGGCA	0.617000														94			8		0	0	1	0	0
QTRT1	81890	broad.mit.edu	37	19	10823277	10823277	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10823277C>T	uc002mpr.3	+	6	859	c.834C>T	c.(832-834)ttC>ttT	p.F278F	DNM2_uc010dxk.2_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase 1 (QTRT1), mRNA.	278					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GTGACATGTTCGACTGCGTCT	0.637000														166			65		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67066438	67066438	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:67066438G>T	uc003xvv.3	+	8	1619	c.1393G>T	c.(1393-1395)Ggt>Tgt	p.G465C	TRIM55_uc003xvu.3_Missense_Mutation_p.G465C|TRIM55_uc003xvw.3_Intron|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	465						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AGGGAGCGAAGGTCTGGGGCA	0.567000														67			7		8.12818e-05	8.13908e-05	1	1	0
NDUFAF1	51103	broad.mit.edu	37	15	41679779	41679779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:41679779C>T	uc001znx.3	-	4	1245	c.847G>A	c.(847-849)Gga>Aga	p.G283R	NDUFAF1_uc010bcf.3_Non-coding_Transcript	NM_016013	NP_057097	Q9Y375	CIA30_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1 (NDUFAF1), transcript variant 1, mRNA.	283					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		AAGGTGAATCCTATAGAAGAG	0.358000														67			17		0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22313149	22313149	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22313149C>T	uc001bfk.3	+	6	883	c.768C>T	c.(766-768)gtC>gtT	p.V256V	CELA3B_uc009vqf.3_Intron	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	256	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TCACTCGAGTCTCCGCCTTCA	0.607000														51			12		0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58077194	58077194	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:58077194C>T	uc002ena.3	+	7	2357	c.1384C>T	c.(1384-1386)Ccc>Tcc	p.P462S		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	462	Hemopexin-like 2.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CCTGGGCATCCCCTATGACCG	0.632000														9			3		0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420206	56420206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:56420206G>A	uc002rzn.3	+	1	1373	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	291	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGGCAGCCCCGAACAGCAAAG	0.627000														114			46		0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56952689	56952689	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56952689C>T	uc002qne.3	-	6	2466	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	ZNF667_uc010etl.3_Missense_Mutation_p.E341K|ZNF667_uc002qnd.3_Missense_Mutation_p.E559K|ZNF667_uc010etm.3_Missense_Mutation_p.E502K	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTCCCACATTCATTACATTCA	0.408000														115			23		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98763931	98763931	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98763931G>A	uc001kmw.2	-	33	4011	c.3759C>T	c.(3757-3759)gcC>gcT	p.A1253A		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1253	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCTGGTCAAAGGCAACCAGCT	0.557000														208			47		0	0	1	0	0
PPCS	79717	broad.mit.edu	37	1	42925347	42925347	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:42925347C>T	uc001chl.3	+	2	750	c.686C>T	c.(685-687)tCc>tTc	p.S229F	PPCS_uc001chk.3_Missense_Mutation_p.S56F	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN	Homo sapiens phosphopantothenoylcysteine synthetase (PPCS), transcript variant 1, mRNA.	229					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTTATAATTTCCTTTAAGTTG	0.388000														125			11		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218683210	218683210	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:218683210G>A	uc002vgt.2	-	23	3931	c.3533C>T	c.(3532-3534)cCt>cTt	p.P1178L	TNS1_uc002vgr.2_Missense_Mutation_p.P1165L|TNS1_uc002vgs.2_Missense_Mutation_p.P1157L|TNS1_uc010zjv.1_Missense_Mutation_p.P1157L	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1178						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCGCGCCTGAGGGCTCCCAGG	0.642000														53			31		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99308381	99308381	+	Missense_Mutation	SNP	C	T	T	rs147031398		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99308381C>T	uc003uru.3	-	9	1103	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	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.	334					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)					GTATCAATTTCCTTCTGCACT	0.453000														69			22		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523781	24523781	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:24523781C>T	uc002wtw.1	+	1	681	c.48C>T	c.(46-48)atC>atT	p.I16I		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	16					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ACAGTAAAATCAGTGATGCTG	0.517000														66			31		0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243354563	243354563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:243354563G>A	uc021plo.1	-	7	1273	c.865C>T	c.(865-867)Cca>Tca	p.P289S	CEP170_uc021plp.1_Missense_Mutation_p.P289S|CEP170_uc021plq.1_Missense_Mutation_p.P289S|Mir_350_uc021plr.1_5'Flank	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	289						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ACCTTCCCTGGGGTACTGTCA	0.438000														20			4		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6484041	6484041	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:6484041G>A	uc001iji.1	-	14	1833	c.1749C>T	c.(1747-1749)atC>atT	p.I583I	PRKCQ_uc001ijj.2_Silent_p.I550I|PRKCQ_uc009xim.2_Intron|PRKCQ_uc009xin.2_Silent_p.I514I|PRKCQ_uc010qax.2_Silent_p.I425I	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	550	Protein kinase.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GACCCAGCAAGATCTGCACAA	0.507000														45			11		0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6760821	6760821	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6760821C>T	uc002mft.3	-	2	441	c.247G>A	c.(247-249)Gag>Aag	p.E83K	SH2D3A_uc010xjg.2_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	83	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGGAATTGCTCATCCTCCAGT	0.637000														54			20		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44004474	44004474	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:44004474G>A	uc003bdy.2	-	21	2883	c.2569C>T	c.(2569-2571)Cta>Tta	p.L857L	EFCAB6_uc003bdz.2_Silent_p.L705L|EFCAB6_uc010gzi.2_Silent_p.L705L|EFCAB6_uc010gzj.1_Intron	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	857	EF-hand 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCGGTTTCTAGAAAATTCTAC	0.398000														57			36		0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23647609	23647609	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23647609G>A	uc002dlx.1	-	3	458	c.258C>T	c.(256-258)acC>acT	p.T86T		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	86	Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CATCAAGATGGGTTTTGATGT	0.328000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						16			9		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13357153	13357153	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:13357153C>T	uc003wwm.2	-	1	872	c.428G>A	c.(427-429)gGa>gAa	p.G143E	DLC1_uc003wwn.3_Missense_Mutation_p.G143E|DLC1_uc011kxy.2_Missense_Mutation_p.G143E	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	143					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGAGCCTGCTCCTTGGATCAT	0.408000														149			79		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57330048	57330049	+	Nonsense_Mutation	DNP	AC	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57330048_57330049AC>TA	uc002qnu.2	-	4	1042_1043	c.691_692GT>TA	c.(691-693)gtg>TAg	p.V231*	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Nonsense_Mutation_p.V106*|PEG3_uc010etp.2_Nonsense_Mutation_p.V106*|PEG3_uc010ygs.1_Nonsense_Mutation_p.V106*|PEG3_uc002qnq.2_Nonsense_Mutation_p.V106*|PEG3_uc002qnt.2_Nonsense_Mutation_p.V232*|PEG3_uc002qnv.2_Nonsense_Mutation_p.V231*|PEG3_uc002qnw.2_Nonsense_Mutation_p.V106*|PEG3_uc002qnx.2_Nonsense_Mutation_p.V105*|PEG3_uc010etr.2_Nonsense_Mutation_p.V231*	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	231					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAGGTCCACCACATTTTGGTAT	0.480000														84			30		0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30551997	30551997	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30551997C>T	uc003nql.3	+	12	1226	c.1131C>T	c.(1129-1131)gtC>gtT	p.V377V	ABCF1_uc003nqk.2_Silent_p.V378V|ABCF1_uc003nqm.3_Silent_p.V339V|MIR877_uc021yud.1_5'Flank	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	377	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CACCAGCAGTCCAGGCTGTTC	0.552000														65			6		0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	430734	430734	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:430734G>A	uc002loq.4	-	8	1124	c.1124C>T	c.(1123-1125)tCt>tTt	p.S375F		NM_012435	NP_036567	P98077	SHC2_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 2 (SHC2), mRNA.	375	CH1.				Ras protein signal transduction|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ATCTCTTAGAGAAGGAGATGG	0.647000														29			8		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160843796	160843796	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:160843796G>A	uc002ube.2	-	11	2120	c.1908C>T	c.(1906-1908)caC>caT	p.H636H	PLA2R1_uc010zcp.2_Silent_p.H636H|PLA2R1_uc002ubf.3_Silent_p.H636H	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	636	C-type lectin 3.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTGCCTTAAAGTGCCGACAGT	0.483000														40			7		0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155160	12155160	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12155160C>T	uc021upl.1	-	3	1222	c.1056G>A	c.(1054-1056)aaG>aaA	p.K352K	ZNF878_uc002mta.1_Silent_p.K399K	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TTCGAAGATCCTTGACAAAAC	0.373000														85			7		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501656	140501656	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140501656C>T	uc003lip.1	+	0	76	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	26					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCTCAGGTTCGCCTCGAGCC	0.502000														67			27		0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26719613	26719613	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:26719613C>T	uc003gsf.4	+	13	1283	c.1013C>T	c.(1012-1014)gCc>gTc	p.A338V	TBC1D19_uc010iew.3_Missense_Mutation_p.A338V|TBC1D19_uc011bxu.2_Missense_Mutation_p.A273V	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	338	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TTCAACAGTGCCTCGCCACCA	0.299000														97			33		0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37067192	37067192	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:37067192C>T	uc003cgl.3	+	11	1301	c.1103C>T	c.(1102-1104)tCg>tTg	p.S368L	MLH1_uc011aye.2_Missense_Mutation_p.S127L|MLH1_uc011ayb.2_Missense_Mutation_p.S127L|MLH1_uc010hge.3_Missense_Mutation_p.S368L|MLH1_uc011ayc.2_Missense_Mutation_p.S270L|MLH1_uc011ayd.2_Missense_Mutation_p.S127L|MLH1_uc003cgo.3_Missense_Mutation_p.S127L|MLH1_uc003cgn.4_Missense_Mutation_p.S127L|MLH1_uc010hgg.1_Missense_Mutation_p.S27L|MLH1_uc010hgh.1_Missense_Mutation_p.S27L|MLH1_uc010hgi.1_Missense_Mutation_p.S10L|MLH1_uc010hgj.1_Missense_Mutation_p.S10L|MLH1_uc010hgk.3_Missense_Mutation_p.S10L|MLH1_uc010hgl.1_Intron|MLH1_uc010hgn.3_Missense_Mutation_p.S10L|MLH1_uc010hgm.3_Non-coding_Transcript|MLH1_uc010hgo.3_Missense_Mutation_p.S10L	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	368					mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)|p.T367A(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AGTCTGACCTCGTCTTCTACT	0.423000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					68			43		0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55056065	55056065	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:55056065G>A	uc003jqg.4	+	3	264	c.165G>A	c.(163-165)atG>atA	p.M55I	DDX4_uc010ivz.3_Missense_Mutation_p.M55I|DDX4_uc003jqh.4_Missense_Mutation_p.M55I	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	55					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ATCATTTCATGAAAAGTGGAT	0.358000														95			41		0	0	1	0	0
MKNK2	2872	broad.mit.edu	37	19	2040160	2040160	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:2040160G>A	uc002lus.2	-	12	1372	c.1127C>T	c.(1126-1128)aCc>aTc	p.T376I	MKNK2_uc021ump.1_5'Flank|MKNK2_uc002luq.1_Missense_Mutation_p.T120I|MKNK2_uc010xgu.1_Missense_Mutation_p.T215I|MKNK2_uc010xgv.1_Missense_Mutation_p.T245I|MKNK2_uc002lur.2_Missense_Mutation_p.T376I|MKNK2_uc002lut.1_3'UTR	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 2 (MKNK2), transcript variant 2, mRNA.	376	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		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)		AGTGGGCAAGGTGTTCTCCGG	0.677000														8			3		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73569208	73569208	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73569208C>T	uc002joh.3	+	19	2728	c.2574C>T	c.(2572-2574)gaC>gaT	p.D858D	LLGL2_uc002joi.3_Silent_p.D858D|LLGL2_uc010dgg.2_Silent_p.D858D|LLGL2_uc002joj.3_Silent_p.D847D|LLGL2_uc010wsd.2_Silent_p.D485D	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	858					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GAGCCGAGGACTACGGGGAGC	0.657000														42			17		0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29222072	29222072	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29222072C>T	uc010ezl.3	+	3	516	c.165C>T	c.(163-165)gcC>gcT	p.A55A	FAM179A_uc010ymm.2_Silent_p.A55A	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	55			A -> T (in dbSNP:rs13009279).				binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGCCAAGAGCCCTGCTGAACA	0.622000														20			6		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95088716	95088716	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:95088716C>T	uc001ydp.3	+	3	1115	c.956C>T	c.(955-957)tCg>tTg	p.S319L	SERPINA3_uc001ydo.4_Missense_Mutation_p.S344L|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.S319L|SERPINA3_uc001yds.3_Missense_Mutation_p.S319L	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	319					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.S319L(2)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TTTTCCATCTCGAGGGACTAT	0.498000														105			27		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53420813	53420813	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:53420813G>A	uc001vhi.3	-	0	1963	c.1759C>T	c.(1759-1761)Cct>Tct	p.P587S	PCDH8_uc001vhj.3_Missense_Mutation_p.P587S	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	587	Cadherin 5.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GAAAGCTGAGGGGAGCCGCCG	0.652000														14			4		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516978	140516978	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140516978C>T	uc003liq.3	+	0	2179	c.1962C>T	c.(1960-1962)acC>acT	p.T654T		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	654	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCGGCCACCGCCACGCTGC	0.731000														119			18		0	0	1	0	0
KLC4	89953	broad.mit.edu	37	6	43039885	43039885	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43039885C>T	uc003otw.1	+	12	1753	c.1434_splice	c.e12-1	p.S478_splice	KLC4_uc003otr.1_Splice_Site|KLC4_uc003otv.1_Splice_Site_p.S460_splice|KLC4_uc011dvd.1_Splice_Site_p.S383_splice|KLC4_uc003otx.1_Splice_Site_p.S460_splice|KLC4_uc003oty.1_Splice_Site_p.S460_splice|KLC4_uc003otz.1_Splice_Site_p.S460_splice	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	460						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CTCACCACAGCCCCACAGTGA	0.483000														124			9		0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62594450	62594450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62594450G>A	uc002yhl.1	-	11	2020	c.1966C>T	c.(1966-1968)Ccc>Tcc	p.P656S		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	656					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCACTCACGGGGGCCGTGTGC	0.622000														8			3		0	0	1	0	0
ADRB1	153	broad.mit.edu	37	10	115804617	115804617	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115804617C>T	uc001lba.3	+	0	812	c.726C>T	c.(724-726)ttC>ttT	p.F242F		NM_000684	NP_000675	P08588	ADRB1_HUMAN	Homo sapiens adrenergic, beta-1-, receptor (ADRB1), mRNA.	242					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	TCATGGCCTTCGTGTACCTGC	0.657000														51			5		0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275004	29275004	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29275004C>T	uc011dln.2	+	0	538	c.538C>T	c.(538-540)Cct>Tct	p.P180S		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CTGTGATGTTCCTCAGATGCT	0.453000														154			36		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202753	39202753	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:39202753C>T	uc003jls.3	-	0	377	c.310G>A	c.(310-312)Gag>Aag	p.E104K	FYB_uc003jlt.3_Missense_Mutation_p.E104K|FYB_uc003jlu.3_Missense_Mutation_p.E104K|FYB_uc011cpl.2_Missense_Mutation_p.E114K	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	104					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding	p.P103P(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ACTTTCGCCTCGGGGTCTCTG	0.542000														35			14		0	0	1	0	0
CDX1	1044	broad.mit.edu	37	5	149563070	149563070	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149563070G>A	uc003lrq.3	+	2	721	c.625G>A	c.(625-627)Gag>Aag	p.E209K		NM_001804	NP_001795	P47902	CDX1_HUMAN	Homo sapiens caudal type homeobox 1 (CDX1), mRNA.	209						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGGCAAAGGAGCGCAAAGT	0.612000														34			15		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677281	100677281	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100677281G>A	uc003uxp.1	+	2	2637	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	862	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S861T(3)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTTATAGTGAAGGAAGAAC	0.488000														478			181		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124369665	124369665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124369665G>A	uc003ehg.3	+	37	5799	c.5672G>A	c.(5671-5673)gGa>gAa	p.G1891E	KALRN_uc003ehi.3_Missense_Mutation_p.G232E|KALRN_uc003ehk.3_Missense_Mutation_p.G194E|KALRN_uc011bjz.2_5'UTR|KALRN_uc003ehj.2_Missense_Mutation_p.G162E	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1890					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGTCTAGAAGGAAGCTCATAC	0.498000														101			28		0	0	1	0	0
MYLPF	29895	broad.mit.edu	37	16	30387211	30387211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30387211C>T	uc002dxv.1	+	1	130	c.74C>T	c.(73-75)aCt>aTt	p.T25I	ZNF48_uc021tgi.1_5'Flank|ZNF48_uc021tgj.1_5'Flank	NM_013292	NP_037424	Q96A32	MLRS_HUMAN	Homo sapiens myosin light chain, phosphorylatable, fast skeletal muscle (MYLPF), mRNA.	25	EF-hand 1.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			TTCGACCAGACTCAGATCCAG	0.597000														27			5		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116599799	116599799	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:116599799G>T	uc002tle.3	+	25	2302	c.2281G>T	c.(2281-2283)Gaa>Taa	p.E761*	DPP10_uc002tla.2_Nonsense_Mutation_p.E757*|DPP10_uc002tlb.2_Nonsense_Mutation_p.E707*|DPP10_uc002tlc.2_Nonsense_Mutation_p.E753*|DPP10_uc002tlf.2_Nonsense_Mutation_p.E750*	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	757					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTACCCAGATGAAGGTCATAA	0.383000														48			11		1.08611e-07	1.08887e-07	1	1	0
CES1	1066	broad.mit.edu	37	16	55862776	55862776	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:55862776G>A	uc002eim.3	-	1	268	c.160C>T	c.(160-162)Cct>Tct	p.P54S	CES1_uc002eil.3_Missense_Mutation_p.P55S|CES1_uc002ein.3_Missense_Mutation_p.P54S	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	54					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TTGGCAAAAGGGATTCCCAGG	0.557000														38			7		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3081303	3081303	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:3081303C>T	uc022aqr.1	-	27	4822	c.4432G>A	c.(4432-4434)Gac>Aac	p.D1478N	CSMD1_uc011kwj.2_Missense_Mutation_p.D871N|CSMD1_uc003wqe.3_Missense_Mutation_p.D635N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1479	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCTCCAGTCACATTCCTTC	0.463000														60			24		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16910722	16910722	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16910722C>T	uc002neu.4	+	16	3907	c.3485C>T	c.(3484-3486)aCc>aTc	p.T1162I	NWD1_uc002net.4_Missense_Mutation_p.T1027I|NWD1_uc002nev.4_Missense_Mutation_p.T956I|NWD1_uc021uqg.1_Missense_Mutation_p.T1027I	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1162							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						GAACAGGGGACCCTTCTGGAC	0.582000														60			9		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605214	140605214	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140605214C>T	uc003ljb.3	+	0	2137	c.2137C>T	c.(2137-2139)Ctg>Ttg	p.L713L		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	713					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGGTGCGGCTGTGCAGGAG	0.692000														245			46		0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8183561	8183561	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:8183561C>T	uc003sro.4	-	8	982	c.846G>A	c.(844-846)gaG>gaA	p.E282E	ICA1_uc010ktr.3_Silent_p.E282E|ICA1_uc003srm.3_Silent_p.E282E|ICA1_uc003srn.4_Silent_p.E208E|ICA1_uc003srq.3_Silent_p.E282E|ICA1_uc003srr.3_Silent_p.E281E|ICA1_uc010kts.3_Intron	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	282					neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		p.E282K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTTTCTTCTTCTCTTCTTTCT	0.408000														40			22		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200508	155200508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:155200508C>T	uc021xge.1	-	22	3608	c.3331G>A	c.(3331-3333)Ggt>Agt	p.G1111S	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.G1073S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1111					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCAGGATTACCCTTTTCCTTG	0.473000														91			43		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20806929	20806929	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:20806929C>T	uc001reh.2	+	14	3014	c.2974C>T	c.(2974-2976)Cgt>Tgt	p.R992C	PDE3A_uc021qwa.1_Missense_Mutation_p.R670C	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	992	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTTCATGGATCGTTCTGCTCC	0.468000														64			22		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111138100	111138100	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:111138100C>T	uc001vqx.3	+	33	3413	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1042	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CATCGGAGTCCCCGGCATCCC	0.617000														63			30		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830182	13830182	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13830182C>T	uc003jfd.2	-	36	6244	c.6202G>A	c.(6202-6204)Gga>Aga	p.G2068R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2068	AAA 1 (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)					ACATTATCTCCATCAGTAAAG	0.378000									Kartagener syndrome					49			14		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151927040	151927040	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:151927040G>A	uc003wla.3	-	17	3163	c.2944C>T	c.(2944-2946)Cag>Tag	p.Q982*	MLL3_uc003wkz.3_Nonsense_Mutation_p.Q43*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	982					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGGTAACACTGACCACACTGA	0.343000			N		medulloblastoma									436			26		0	0	1	0	0
NKG7	4818	broad.mit.edu	37	19	51875645	51875645	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51875645C>T	uc002pwj.3	-	0	316	c.145G>A	c.(145-147)Gac>Aac	p.D49N	NKG7_uc002pwk.3_Missense_Mutation_p.D49N	NM_005601	NP_005592	Q16617	NKG7_HUMAN	Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA.	49						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GATATGATGTCCCCATGCCCT	0.582000														164			52		0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44589351	44589351	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44589351G>A	uc002xqw.3	-	11	1809	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F	ZNF335_uc010zxk.2_Silent_p.F407F	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CAGGGCAGGGGAAAGAGCTCA	0.557000														92			30		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955629	18955629	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:18955629G>A	uc001mpg.3	-	0	921	c.703C>T	c.(703-705)Cag>Tag	p.Q235*		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	235					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGAAAAACTGAATGCCAAAG	0.478000														37			17		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28722112	28722112	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28722112C>T	uc002kwn.3	-	8	1372	c.1110G>A	c.(1108-1110)gtG>gtA	p.V370V	DSC1_uc002kwm.3_Silent_p.V370V	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	370	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GTAAAATCTCCACGTCAATTC	0.333000														82			19		0	0	1	0	0
MXRA8	54587	broad.mit.edu	37	1	1290115	1290116	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1290115_1290116GG>AC	uc001aex.4	-	4	926_927	c.895_896CC>GT	c.(895-897)ccc>GTc	p.P299V	MXRA8_uc001aew.3_Missense_Mutation_p.P299V|MXRA8_uc001aey.4_Missense_Mutation_p.P299V|MXRA8_uc001aez.3_Missense_Mutation_p.P198V|MXRA8_uc001afa.3_Missense_Mutation_p.P290V	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	Homo sapiens matrix-remodelling associated 8 (MXRA8), mRNA.	299						integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCCCCGGGGGGGCGGCTCCGCG	0.733000														19			7		0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173352339	173352339	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:173352339C>T	uc002uhp.1	+	15	2428	c.2225C>T	c.(2224-2226)cCt>cTt	p.P742L	ITGA6_uc010zdy.1_Missense_Mutation_p.P623L|ITGA6_uc002uho.1_Missense_Mutation_p.P742L|ITGA6_uc010fqm.1_Missense_Mutation_p.P388L	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	781					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CTCGGAAATCCTTTTAAAAGA	0.408000														57			17		0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100657	93100657	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:93100657C>T	uc001tch.2	+	1	701	c.250C>T	c.(250-252)Ctt>Ttt	p.L84F	C12orf74_uc001tci.3_Missense_Mutation_p.L84F|C12orf74_uc021rbt.1_Missense_Mutation_p.L84F	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	84										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCCATGTTACCTTTCGAAGAG	0.557000														48			22		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121976336	121976336	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:121976336C>T	uc004bkc.2	-	5	1239	c.783G>A	c.(781-783)caG>caA	p.Q261Q	DBC1_uc004bkd.2_Silent_p.Q261Q	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	261					cell cycle arrest|cell death	cytoplasm	protein binding			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						ACTGGCTGTTCTGGCACAGGT	0.537000														71			16		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3265542	3265542	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:3265542G>A	uc022aqr.1	-	13	2340	c.1950C>T	c.(1948-1950)gtC>gtT	p.V650V	CSMD1_uc011kwj.2_Silent_p.V43V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	651	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTACCCAGGACAGTTATGT	0.463000														36			5		0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86965435	86965435	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:86965435G>A	uc001dlt.3	+	13	2712	c.2452G>A	c.(2452-2454)Gaa>Aaa	p.E818K		NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	818					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CATCCCAAAGGAAGCCAACTC	0.363000														160			37		0	0	1	0	0
TPTEP1	387590	broad.mit.edu	37	22	17178965	17178965	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17178965C>T	uc002zls.1	+	2		c.1047C>T								Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		TGGTGGGGCTCACCGGGGCAT	0.587000														24			7		0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102441875	102441875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:102441875C>T	uc002tbc.3	+	4	779	c.401C>T	c.(400-402)tCc>tTc	p.S134F	MAP4K4_uc002tbf.3_Missense_Mutation_p.S134F|MAP4K4_uc002tbd.3_Missense_Mutation_p.S134F|MAP4K4_uc010yvy.2_Missense_Mutation_p.S134F|MAP4K4_uc002tbh.3_Missense_Mutation_p.S134F|MAP4K4_uc002tbg.3_Missense_Mutation_p.S134F|MAP4K4_uc002tbi.3_Missense_Mutation_p.S134F|MAP4K4_uc010yvz.2_Missense_Mutation_p.S114F|MAP4K4_uc010fiw.1_Intron|MAP4K4_uc002tbj.1_Missense_Mutation_p.S30F	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	134	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCTTACATCTCCAGAGAAATC	0.478000														34			9		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50405665	50405665	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:50405665C>T	uc003daq.3	-	25	2105	c.2067_splice	c.e25-1	p.R689_splice	CACNA2D2_uc003dap.3_Splice_Site_p.R682_splice	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	689					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TTGCAGTACTCTCTAGGGATG	0.537000														134			52		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100261751	100261751	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:100261751C>T	uc021xqi.1	-	6		c.1030G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TAGCTCCTTTCCACGTGCGTC	0.438000														203			69		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142625187	142625187	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142625187C>T	uc003wby.1	-	6	1169	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	TRPV5_uc003wbz.3_Missense_Mutation_p.R302Q	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	302					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.R302R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCATACCTCTCGTTTATCAGA	0.522000														66			13		0	0	1	0	0
RETN	56729	broad.mit.edu	37	19	7734761	7734761	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7734761G>A	uc002mhg.1	+	2	210	c.173G>A	c.(172-174)gGg>gAg	p.G58E	RETN_uc002mhf.1_Missense_Mutation_p.G58E|RETN_uc010dvm.1_Intron	NM_001193374	NP_065148	Q9HD89	RETN_HUMAN	Homo sapiens resistin (RETN), transcript variant 2, mRNA.	58							hormone activity			ovary(1)	1						ACCTCCAGGGGGGACCTGGCT	0.617000														33			15		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131521956	131521956	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:131521956G>A	uc021voy.1	+	0	2311	c.2311G>A	c.(2311-2313)Gag>Aag	p.E771K	FAM123C_uc002trw.2_Missense_Mutation_p.E771K|FAM123C_uc010fmv.2_Missense_Mutation_p.E771K|FAM123C_uc010fms.1_Missense_Mutation_p.E771K|FAM123C_uc010fmt.1_Missense_Mutation_p.E771K|FAM123C_uc010fmu.1_Missense_Mutation_p.E771K	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	771										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGCCTCTGTGGAGGACCAGCC	0.677000														19			8		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36342177	36342177	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36342177G>A	uc002oby.3	-	2	540	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	128	Ig-like C2-type 1.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGATGGAGAGGATCACTCTGG	0.642000														36			17		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23117572	23117572	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23117572G>A	uc002dll.3	-	3	915	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	305					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AAATGCAAAGGAAAGGATCAA	0.383000														59			19		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580471	140580471	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140580471C>T	uc003liy.3	+	0	1124	c.1124C>T	c.(1123-1125)tCt>tTt	p.S375F		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	375	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S375P(1)		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)			GATATAGACTCTGGGGACAAC	0.428000														110			32		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11058943	11058943	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:11058943G>A	uc010hdq.3	+	2	457	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	16					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GATCTCCACCGAGGTCAGCGA	0.642000														55			16		0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108861132	108861132	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:108861132G>A	uc001vqn.3	-	1	2758	c.2485C>T	c.(2485-2487)Ctg>Ttg	p.L829L	LIG4_uc001vqo.3_Silent_p.L829L|LIG4_uc010agf.3_Silent_p.L829L|LIG4_uc001vqp.3_Silent_p.L829L|LIG4_uc010agg.1_Silent_p.L762L|LIG4_uc021rmk.1_Silent_p.L829L	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	829	BRCT 2.				DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTGGTACTCAGGTCATTAATA	0.428000								Non-homologous end-joining						79			18		0	0	1	0	0
TPRX1	284355	broad.mit.edu	37	19	48305051	48305051	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:48305051C>T	uc002php.2	-	1	1357	c.1217G>A	c.(1216-1218)aGg>aAg	p.R406K		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	Homo sapiens tetra-peptide repeat homeobox 1 (TPRX1), mRNA.	406						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		CAGTAATAACCTGGGGCCTGA	0.517000														104			9		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124413966	124413966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124413966G>A	uc001uft.4	+	69	12122	c.12097G>A	c.(12097-12099)Gag>Aag	p.E4033K	DNAH10_uc001ufu.4_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	4033	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGTGGTGCAGGAGAGAAGGAA	0.517000														27			7		0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47423320	47423320	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:47423320C>T	uc002zhu.1	+	34	2582	c.2480C>T	c.(2479-2481)cCg>cTg	p.P827L	COL6A1_uc002zhv.1_Missense_Mutation_p.P158L	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	827	C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TTCTCCTCCCCGGCTGACATC	0.677000														62			7		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89971131	89971131	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89971131C>T	uc003kju.3	+	23	5278	c.5182C>T	c.(5182-5184)Cca>Tca	p.P1728S	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1728					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGCAGCGTTCCACATATCAC	0.547000														19			11		0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241831098	241831098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241831098G>A	uc002wae.4	-	1	756	c.597C>T	c.(595-597)ttC>ttT	p.F199F	C2orf54_uc002wac.3_Silent_p.F31F|C2orf54_uc002wad.3_Silent_p.F50F	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	199										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCACCACGTGGAAGCTGATTG	0.627000														73			39		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121344402	121344402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:121344402C>T	uc003yox.3	+	40	4947	c.4682C>T	c.(4681-4683)tCc>tTc	p.S1561F	COL14A1_uc003yoz.3_Missense_Mutation_p.S526F	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1561	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGGATGGATCCTCGGGACCT	0.463000														43			19		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539788	55539788	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55539788C>T	uc003xsd.1	+	3	3494	c.3346C>T	c.(3346-3348)Ccc>Tcc	p.P1116S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1116					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGCAGGTGTTCCCTTTCATTC	0.423000														58			19		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279210	47279210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47279210G>A	uc001cqn.4	+	4	636	c.552G>A	c.(550-552)gtG>gtA	p.V184V	CYP4B1_uc009vyl.1_Silent_p.V21V|CYP4B1_uc001cqm.4_Silent_p.V184V|CYP4B1_uc009vym.3_Silent_p.V169V|CYP4B1_uc010omk.2_Silent_p.V21V|CYP4B1_uc010oml.1_Silent_p.V21V	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	184					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TCTGCGATGTGGGTCACATGG	0.582000														67			19		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515108	233515108	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233515108G>A	uc001hvt.4	+	8	2617	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K	KIAA1804_uc001hvu.4_Missense_Mutation_p.E232K	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	786					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CACCTGTGGGGAGGCCAGCAG	0.597000														79			8		0	0	1	0	0
RHOD	29984	broad.mit.edu	37	11	66834233	66834233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66834233G>A	uc001ojv.3	+	2	330	c.245G>A	c.(244-246)cGg>cAg	p.R82Q		NM_014578	NP_055393	O00212	RHOD_HUMAN	Homo sapiens ras homolog gene family, member D (RHOD), mRNA.	82					Rho protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						GACCGCCTGCGGCCCCTGTTC	0.607000														126			76		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059682	152059682	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152059682G>A	uc001ezo.1	-	2	541	c.476C>T	c.(475-477)cCa>cTa	p.P159L		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	159							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)			TTCTCTCCATGGGTCCACTCT	0.453000														100			16		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36778896	36778896	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36778896C>T	uc003cgi.2	-	1	1746	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	419	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCGTAGACTTCATGCAATTTC	0.493000														59			15		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10602081	10602081	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:10602081C>T	uc010rcc.1	-	19	2802	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Missense_Mutation_p.E798K|MRVI1_uc001miw.2_Missense_Mutation_p.E797K|MRVI1_uc001mix.3_Missense_Mutation_p.E491K|MRVI1_uc001miz.2_Missense_Mutation_p.E715K|MRVI1_uc010rcd.1_Missense_Mutation_p.E600K|MRVI1_uc009ygd.1_Missense_Mutation_p.E491K	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	779	Glu-rich.				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCTGTTCTTCCTCCTCCTCC	0.493000														184			72		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451867	19451867	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19451867C>T	uc002dgc.4	+	2	1256	c.507C>T	c.(505-507)aaC>aaT	p.N169N	TMC5_uc010vaq.2_Silent_p.N169N|TMC5_uc002dgb.4_Silent_p.N169N|TMC5_uc010var.2_Silent_p.N169N	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	169						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						CTCAGAGCAACTCTGATCATC	0.478000														144			43		0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164507064	164507064	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:164507064C>T	uc003iqs.2	-	5	442	c.260G>A	c.(259-261)gGg>gAg	p.G87E	MARCH1_uc003iqr.2_Missense_Mutation_p.G70E	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	87					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)				CTCTTCATCCCCTTCGCAGTG	0.522000														35			12		0	0	1	0	0
C7orf29	113763	broad.mit.edu	37	7	150028044	150028044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150028044C>T	uc003wgy.3	+	0	1107	c.551C>T	c.(550-552)tCg>tTg	p.S184L	LRRC61_uc003wgv.3_Intron|LRRC61_uc003wgx.3_Intron|LRRC61_uc003wgw.3_Intron	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	Homo sapiens chromosome 7 open reading frame 29 (C7orf29), mRNA.	184										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9			OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGCGGGGGCTCGCTGTCCACC	0.622000														19			12		0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53157753	53157753	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:53157753G>A	uc003dgj.3	-	2	307	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L		NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA.	85					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		AGCCACAGCAGGTTGAGGGTC	0.552000														49			25		0	0	1	0	0
MFSD10	10227	broad.mit.edu	37	4	2935555	2935555	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:2935555G>A	uc003gfw.3	-	0	410	c.96C>T	c.(94-96)ctC>ctT	p.L32L	MFSD10_uc021xks.1_5'Flank|MFSD10_uc003gfz.3_Silent_p.L32L|NOP14-AS1_uc003ggd.1_5'Flank|NOP14-AS1_uc003gge.1_5'Flank|NOP14-AS1_uc003ggg.1_5'Flank|NOP14-AS1_uc003ggh.3_5'Flank	NM_001120	NP_001139541	Q14728	MFS10_HUMAN	Homo sapiens major facilitator superfamily domain containing 10 (MFSD10), transcript variant 1, mRNA.	32					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGTCCAGCAGGAGGCCGAGAA	0.716000														4			4		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57865804	57865804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57865804C>T	uc001snx.3	+	11	3375	c.3281C>T	c.(3280-3282)tCc>tTc	p.S1094F	GLI1_uc021qzi.1_Missense_Mutation_p.S1053F|GLI1_uc009zpq.3_Missense_Mutation_p.S966F	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	1094					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.S1094F(4)|p.R1093S(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TTACTGAGATCCCTACCTGGG	0.532000														94			30		0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770252	53770253	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53770252_53770253GG>AA	uc010ydu.2	-	0	666_667	c.666_667CC>TT	c.(664-669)tccccc>tcTTcc	p.P223S		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	223					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GAGGCTCTGGGGGAGAGATTGC	0.535000										HNSCC(26;0.072)				18			8		0	0	1	0	0
NKAIN1	79570	broad.mit.edu	37	1	31656841	31656841	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:31656841G>A	uc010ogd.2	-	3	634	c.294C>T	c.(292-294)acC>acT	p.T98T	NKAIN1_uc010ogc.2_Silent_p.T27T	NM_024522	NP_078798	Q4KMZ8	NKAI1_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 1 (NKAIN1), mRNA.	98						integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		ATGTGTTGAAGGTCATGATGA	0.612000											OREG0004725	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			13		0	0	1	0	0
NCR3	259197	broad.mit.edu	37	6	31560469	31560469	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31560469G>A	uc003nuv.2	-	0	294	c.30C>T	c.(28-30)atC>atT	p.I10I	NCR3_uc003nuw.2_Silent_p.I10I|NCR3_uc003nux.1_Silent_p.I10I	NM_147130	NP_667341	O14931	NCTR3_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 3 (NCR3), transcript variant 1, mRNA.	10					cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						GATGGACCATGATCAAGATGA	0.587000														36			5		0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40030130	40030130	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:40030130G>A	uc001cdl.2	-	9	2316	c.1418C>T	c.(1417-1419)gCc>gTc	p.A473V	PABPC4_uc010oiv.1_Intron|PABPC4_uc001cdm.2_Missense_Mutation_p.A473V	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	468					RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	p.P473L(1)|p.P473P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCCACGAGAGGCCGGAGCATT	0.562000														120			49		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145427421	145427421	+	Silent	SNP	G	A	A	rs75157444	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:145427421G>A	uc003lnt.3	+	5	1384	c.1146G>A	c.(1144-1146)gcG>gcA	p.A382A	SH3RF2_uc011dbl.1_Silent_p.A382A|SH3RF2_uc011dbm.1_5'Flank|SH3RF2_uc003lnu.3_5'Flank	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	382	SH3 3.						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)			ACCTCTCAGCGAACATGTGAG	0.527000														29			41		0	0	1	0	0
BTN3A2	11118	broad.mit.edu	37	6	26368453	26368453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:26368453C>T	uc010jqh.2	+	2	302	c.43C>T	c.(43-45)Cat>Tat	p.H15Y	BTN3A2_uc003nhp.3_Missense_Mutation_p.H15Y|BTN3A2_uc011dkd.2_Intron|BTN3A2_uc011dke.2_Intron|BTN3A2_uc010jqi.2_Missense_Mutation_p.H15Y	NM_001197247	NP_001184176	P78410	BT3A2_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A2 (BTN3A2), transcript variant 3, mRNA.	15						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GCTCAACTTTCATGTCTCCCT	0.453000														105			53		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134896158	134896158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:134896158C>T	uc001llw.3	+	5	1244	c.1244C>T	c.(1243-1245)aCc>aTc	p.T415I				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCCTACGAGACCCACGGCCTT	0.607000														26			12		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286946	152286946	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152286946C>T	uc001ezu.1	-	2	452	c.416G>A	c.(415-417)gGa>gAa	p.G139E	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	139					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGGATCTTCCCTTATTCCC	0.353000									Ichthyosis					133			35		0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15185362	15185362	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:15185362G>A	uc003zlr.2	-	15	1567	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	TTC39B_uc003zlq.2_Silent_p.I413I|TTC39B_uc011lmp.2_Silent_p.I345I|TTC39B_uc010mie.2_Silent_p.I508I|TTC39B_uc011lmr.2_Silent_p.I441I|TTC39B_uc011lmq.2_Silent_p.I497I|TTC39B_uc003zlp.2_Silent_p.I27I	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	444							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TCTCAGTAGGGATAGATTTCC	0.502000														73			34		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386606	56386606	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56386606C>T	uc002ivx.4	-	21	4898	c.4027G>A	c.(4027-4029)Gag>Aag	p.E1343K	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.E1283K|BZRAP1_uc010wnt.2_Missense_Mutation_p.E1343K	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1343	Poly-Glu.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					tcctcctcctcgtcctcctct	0.607000														39			18		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	136793	136793	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000209.1:136793G>A	uc002quo.2	+	3	599	c.580G>A	c.(580-582)Gga>Aga	p.G194R	KIR2DL2_uc021vdc.1_Missense_Mutation_p.G194R|KIR2DL2_uc021vdd.1_Missense_Mutation_p.G194R|KIR2DL2_uc010evk.1_Missense_Mutation_p.G94R|KIR2DL2_uc010evl.1_Intron|KIR2DL2_uc002qun.2_Missense_Mutation_p.G194R	NM_012312	NP_036444	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 (KIR2DS2), mRNA.	194	Ig-like C2-type 2.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										CACCCACGGAGGAACCTACAG	0.572000														39			60		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961675	34961675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:34961675C>T	uc004ddi.2	+	0	763	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	243	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCCAGAGACTCGCGCATCTCA	0.647000														58			7		0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12903528	12903528	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:12903528G>A	uc002gnz.4	-	14	1485	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F	ELAC2_uc002gnu.4_5'UTR|ELAC2_uc002gnv.4_Silent_p.F84F|ELAC2_uc002gnx.4_Silent_p.F216F|ELAC2_uc010vvo.2_Silent_p.F254F|ELAC2_uc010vvp.2_Silent_p.F437F|ELAC2_uc010vvq.2_Silent_p.F455F|ELAC2_uc010vvr.2_Silent_p.F416F	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	456					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CGCTCTGCTGGAAGTTGGGAA	0.577000														29			15		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657830	72657830	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:72657830G>A	uc003txs.1	-	12	2082	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		gacgatttgggagtgtccttg	0.507000														189			70		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106917017	106917017	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106917017G>A	uc001kyi.1	+	9	1831	c.1604G>A	c.(1603-1605)aGa>aAa	p.R535K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	535						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGGACCTGAGAGGAAGCCCA	0.557000														43			8		0	0	1	0	0
MRRF	92399	broad.mit.edu	37	9	125042722	125042722	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125042722C>T	uc010mwa.3	+	3	549	c.185_splice	c.e3-1	p.A62_splice	MRRF_uc011lyq.2_Splice_Site_p.A83_splice|MRRF_uc010mvz.2_Splice_Site|MRRF_uc011lyr.2_Intron|MRRF_uc004bme.3_Splice_Site|MRRF_uc022bmy.1_Splice_Site_p.A62_splice	NM_138777	NP_620132	Q96E11	RRFM_HUMAN	Homo sapiens mitochondrial ribosome recycling factor (MRRF), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	62					ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						CACTTTTTAGCCAAAGGGAAA	0.383000														58			18		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11684402	11684402	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11684402C>T	uc002gne.3	+	38	7697	c.7629C>T	c.(7627-7629)ttC>ttT	p.F2543F	DNAH9_uc010coo.3_Silent_p.F1837F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2543	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCATCTATTTCATTGATGACA	0.557000														26			13		0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479935	4479935	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4479935C>T	uc001qmq.1	-	2	476	c.330G>A	c.(328-330)ccG>ccA	p.P110P		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	110					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.P110P(2)|p.D109E(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGCAGTTCTCCGGGTCGAAAT	0.607000														85			15		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759246	121759246	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:121759246G>A	uc003ksw.1	+	3	1020	c.814G>A	c.(814-816)Gag>Aag	p.E272K	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.E272K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.E319K|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.E272K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	272					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCGAAAAGTTGAGAAGACAAC	0.488000														40			15		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72324887	72324887	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72324887G>A	uc002atl.4	-	2	1356	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	MYO9A_uc010biq.3_5'UTR|MYO9A_uc002ato.3_Missense_Mutation_p.R295C|MYO9A_uc002atn.1_Missense_Mutation_p.R295C	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	295	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTCCCAAAACGACTTGAATTG	0.333000														78			12		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935684	30935684	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:30935684C>T	uc002nsu.1	+	1	1353	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S	ZNF536_uc010edd.1_Silent_p.S405S	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.S405F(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGAACAAGTCCCCCAGCGACC	0.622000														57			6		0	0	1	0	0
C9orf152	401546	broad.mit.edu	37	9	112963511	112963511	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:112963511C>T	uc011lwk.2	-	1	991	c.437G>A	c.(436-438)gGa>gAa	p.G146E	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	146										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TTGATCAGATCCCACAAGCTT	0.532000														173			69		0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158724951	158724951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158724951G>A	uc001fsw.1	+	0	346	c.346G>A	c.(346-348)Gag>Aag	p.E116K		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTAATCAGTGAGCAGAAGAG	0.498000														121			51		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81697726	81697726	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81697726C>T	uc001kbh.3	-	7	1053	c.1010G>A	c.(1009-1011)tGg>tAg	p.W337*		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	337	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding	p.N336Y(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCCTGGGGCCCAGTTGGAATA	0.547000														212			75		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16032714	16032714	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:16032714G>A	uc010lsu.3	-	2	317	c.253C>T	c.(253-255)Ctc>Ttc	p.L85F	MSR1_uc003wwz.3_Missense_Mutation_p.L67F|MSR1_uc003wxa.3_Missense_Mutation_p.L67F|MSR1_uc003wxb.3_Missense_Mutation_p.L67F|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	67	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTCCAATGAGAGGGATGAGA	0.418000														81			7		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23826227	23826227	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:23826227C>T	uc003sws.4	+	18	2442	c.2375C>T	c.(2374-2376)cCa>cTa	p.P792L	STK31_uc003swt.4_Missense_Mutation_p.P769L|STK31_uc011jze.2_Missense_Mutation_p.P792L|STK31_uc010kuq.3_Missense_Mutation_p.P769L|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	792	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGGTTACTGCCATTGATATTC	0.378000														81			25		0	0	1	0	0
C14orf135	64430	broad.mit.edu	37	14	60592362	60592362	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:60592362C>T	uc001xer.4	+	8	2908	c.2386C>T	c.(2386-2388)Ctg>Ttg	p.L796L	C14orf135_uc001xeq.2_Silent_p.L796L|C14orf135_uc010apm.3_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	1030						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		TAGGTATACTCTGAAACTAAT	0.294000														4			5		0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76826243	76826243	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:76826243C>T	uc003ugb.3	-	1	713	c.673G>A	c.(673-675)Gag>Aag	p.E225K	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	225	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CTGTAGGTCTCACTGCTTCTT	0.428000														133			43		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22892266	22892266	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22892266C>T	uc002zwf.3	-	3	991	c.835G>A	c.(835-837)Gag>Aag	p.E279K	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.E263K|PRAME_uc010gtr.3_Missense_Mutation_p.E279K|PRAME_uc002zwg.3_Missense_Mutation_p.E279K|PRAME_uc002zwh.3_Missense_Mutation_p.E279K|PRAME_uc002zwi.3_Missense_Mutation_p.E279K|PRAME_uc002zwj.3_Missense_Mutation_p.E279K|PRAME_uc002zwk.3_Missense_Mutation_p.E279K	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	279					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TCTTCCTTCTCCGGGGAAATG	0.507000														81			34		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71054852	71054852	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:71054852T>A	uc001swi.2	-	11	2048	c.1634A>T	c.(1633-1635)aAg>aTg	p.K545M	PTPRR_uc001swf.2_Non-coding_Transcript|PTPRR_uc001swg.2_Non-coding_Transcript|PTPRR_uc001swh.2_Missense_Mutation_p.K300M|PTPRR_uc009zrs.3_Missense_Mutation_p.K339M|PTPRR_uc010stq.2_Missense_Mutation_p.K433M|PTPRR_uc010str.1_3'UTR	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	545	Tyrosine-protein phosphatase.				in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CCAGTAATGCTTCACATGTTG	0.473000														21			10		0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096514	73096514	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73096514C>T	uc002jmr.3	+	4	1128	c.756C>T	c.(754-756)ttC>ttT	p.F252F	SLC16A5_uc002jmt.3_Silent_p.F252F|SLC16A5_uc002jmu.3_Silent_p.F252F|SLC16A5_uc010wrt.2_Silent_p.F292F	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	252					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.F252L(3)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TCCTGGGCTTCCCACTGCCAC	0.607000														46			11		0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107601054	107601054	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107601054G>A	uc003vev.2	-	15	2383	c.2222C>T	c.(2221-2223)aCc>aTc	p.T741I	LAMB1_uc003vew.2_Missense_Mutation_p.T717I|LAMB1_uc003vex.3_Missense_Mutation_p.T717I	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	717	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTCCCACGGTGAAGATGTC	0.493000														59			17		0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138191536	138191536	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:138191536C>T	uc003esk.3	+	17	2298	c.2072C>T	c.(2071-2073)aCt>aTt	p.T691I	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	691						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ATCTTCCTGACTGTCCCAGGT	0.602000														105			38		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417157	150417157	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150417157C>T	uc003whq.3	+	2	205	c.65C>T	c.(64-66)tCc>tTc	p.S22F	GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.S22F	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.									p.S22Y(1)									AACGCTCAGTCCCGGCAGGAG	0.527000														289			96		0	0	1	0	0
LRRC3	81543	broad.mit.edu	37	21	45877193	45877193	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45877193C>T	uc021wjs.1	+	0	666	c.666C>T	c.(664-666)gtC>gtT	p.V222V	LRRC3_uc002zfa.3_Silent_p.V222V	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	222						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCGCCTACGTCGTGTACTATG	0.657000														80			32		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170819401	170819401	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:170819401C>T	uc003fhh.2	-	21	2773	c.2428G>A	c.(2428-2430)Gaa>Aaa	p.E810K	TNIK_uc003fhi.2_Missense_Mutation_p.E755K|TNIK_uc003fhj.2_Missense_Mutation_p.E781K|TNIK_uc003fhk.2_Missense_Mutation_p.E802K|TNIK_uc003fhl.2_Missense_Mutation_p.E726K|TNIK_uc003fhm.2_Missense_Mutation_p.E747K|TNIK_uc003fhn.2_Missense_Mutation_p.E773K|TNIK_uc003fho.2_Missense_Mutation_p.E718K|TNIK_uc003fhg.2_5'UTR	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	810	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCTCTTAGTTCTTTGGCTAAT	0.453000														66			25		0	0	1	0	0
HP	3240	broad.mit.edu	37	16	72094210	72094210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:72094210G>A	uc002fbr.4	+	6	686	c.642G>A	c.(640-642)gcG>gcA	p.A214A	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.3_Silent_p.A155A|HP_uc021tld.1_Silent_p.A155A|HP_uc002fbt.4_Silent_p.A155A|HPR_uc002fby.3_5'Flank	NM_005143	NP_005134	P00738	HPT_HUMAN	Homo sapiens haptoglobin (HP), transcript variant 1, mRNA.	214	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		ATGCAACAGCGAAAGACATTG	0.453000														50			23		0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46620486	46620486	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:46620486C>T	uc002inm.3	-	1	1135	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	339					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TCCAGCTCTTCCTCGGAAAAA	0.597000														76			39		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208270	58208270	+	Silent	SNP	G	A	A	rs151242806	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:58208270G>A	uc001vhq.1	+	0	2482	c.1590G>A	c.(1588-1590)acG>acA	p.T530T	PCDH17_uc010aec.1_Silent_p.T530T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	530	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGAATCCCACGAACGGGGCCA	0.587000														66			16		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130292924	130292924	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130292924C>T	uc010htl.3	+	6	3133	c.3102C>T	c.(3100-3102)ctC>ctT	p.L1034L		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1034	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATGTCAGCCTCAACAGAGTGC	0.418000														33			12		0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102611376	102611376	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:102611376G>A	uc010mbu.3	+	7	1425	c.1095G>A	c.(1093-1095)gcG>gcA	p.A365A		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	365						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ATGAAGAGGCGAAGGTGAGTG	0.378000														26			15		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34003736	34003736	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:34003736C>T	uc003oir.4	-	7	2514	c.2151G>A	c.(2149-2151)tgG>tgA	p.W717*	GRM4_uc011dsn.2_Nonsense_Mutation_p.W670*|GRM4_uc010jvh.3_Nonsense_Mutation_p.W717*|GRM4_uc010jvi.3_Nonsense_Mutation_p.W409*|GRM4_uc003oio.3_Nonsense_Mutation_p.W409*|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Nonsense_Mutation_p.W577*|GRM4_uc003oiq.3_Nonsense_Mutation_p.W584*|GRM4_uc011dsm.2_Nonsense_Mutation_p.W548*	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	717					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CCACCACAAACCACACACAGA	0.642000														109			18		0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81053203	81053203	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81053203C>T	uc001kaf.2	+	11	1595	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S	ZMIZ1_uc001kag.2_Silent_p.S217S|ZMIZ1_uc001kah.1_Silent_p.S223S	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	341	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GGCCTGCCTCCATGGGGGGCA	0.667000														156			30		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54903692	54903692	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54903692G>A	uc001sgc.4	+	6	737	c.658G>A	c.(658-660)Gag>Aag	p.E220K	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.E170K	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	220					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCAGGGGGCTGAGCAGTGGCG	0.507000														131			69		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189856244	189856244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189856244C>T	uc002uqj.1	+	11	1001	c.884C>T	c.(883-885)gCt>gTt	p.A295V	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	295	Triple-helical region.			NGA -> DGS (in Ref. 9; AA sequence).	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G294E(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GAAAATGGAGCTCCTGGACCC	0.318000														49			21		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	174096	174096	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:174096C>T	uc003jak.2	+	15	3267	c.3217C>T	c.(3217-3219)Cgc>Tgc	p.R1073C		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	1073	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GATTTGGTTTCGCAGGCGGCG	0.562000														12			5		0	0	1	0	0
CLDN14	23562	broad.mit.edu	37	21	37833526	37833526	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:37833526C>T	uc021wja.1	-	0	468	c.468G>A	c.(466-468)atG>atA	p.M156I	CLDN14_uc002yvn.1_Missense_Mutation_p.M156I|CLDN14_uc002yvo.1_Missense_Mutation_p.M156I|CLDN14_uc002yvk.1_Missense_Mutation_p.M156I|CLDN14_uc002yvl.1_Missense_Mutation_p.M156I|CLDN14_uc002yvm.1_Missense_Mutation_p.M156I	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	156					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TCTCAAACTTCATGCCGCTGG	0.622000														64			28		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69816835	69816835	+	Missense_Mutation	SNP	G	A	A	rs138523993		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69816835G>A	uc003hef.2	-	0	675	c.644C>T	c.(643-645)tCa>tTa	p.S215L	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	215						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAACAAAACTGAAAGCATTGA	0.358000														47			9		0	0	1	0	0
ESAM	90952	broad.mit.edu	37	11	124623552	124623552	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124623552G>A	uc001qav.4	-	6	1336	c.1163C>T	c.(1162-1164)tCt>tTt	p.S388F	VSIG2_uc001qas.3_5'Flank|VSIG2_uc001qat.3_5'Flank|ESAM_uc010sao.2_Intron|ESAM_uc001qau.4_Missense_Mutation_p.S315F|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Non-coding_Transcript	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	388					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	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;0.022)		TCATACCAGAGAGCCAGCTTG	0.557000														49			27		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15688980	15688980	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15688980C>T	uc001ioc.1	-	11	1072	c.1072G>A	c.(1072-1074)Ggg>Agg	p.G358R	ITGA8_uc010qcb.1_Missense_Mutation_p.G343R	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	358					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TAGATTTGCCCTACTTCTCTG	0.507000														64			21		0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000536	56000536	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56000536C>T	uc010rjc.2	-	0	126	c.126G>A	c.(124-126)atG>atA	p.M42I		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGACATTCTTCATGTTGAAAT	0.358000														61			28		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692426	135692426	+	Missense_Mutation	SNP	G	A	A	rs138178870	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:135692426G>A	uc003lbn.2	-	1	872	c.650C>T	c.(649-651)tCg>tTg	p.S217L	TRPC7_uc010jef.2_Missense_Mutation_p.S208L|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.S217L|TRPC7_uc010jei.2_Missense_Mutation_p.S217L	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	217					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.R216L(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTCATGCGCGAGCGCGAGTG	0.612000														32			14		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949866	27949866	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:27949866G>A	uc003zqv.1	-	6	1454	c.804C>T	c.(802-804)gcC>gcT	p.A268A	LINGO2_uc010mjf.1_Silent_p.A268A|LINGO2_uc003zqu.1_Silent_p.A268A|LINGO2_uc022bfc.1_Silent_p.A268A	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	268						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGTGTTTAAAGGCAAGGAAGG	0.493000														141			19		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47628967	47628967	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:47628967C>T	uc001rpq.3	+	1	646	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	FAM113B_uc001rpn.3_Missense_Mutation_p.R41C|FAM113B_uc021qxi.1_Missense_Mutation_p.R41C	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	41							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					GCAGAAGGACCGCCTGCTCAC	0.597000														37			5		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153864301	153864301	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:153864301C>T	uc003inf.2	+	0	167	c.92C>T	c.(91-93)cCt>cTt	p.P31L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	31					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CAGAcacctcctccagcacct	0.517000														62			15		0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85997276	85997276	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:85997276C>T	uc001kcz.1	-	1	311	c.289G>A	c.(289-291)Gag>Aag	p.E97K		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	97						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCGTTGAGCTCGCTGAGGGCG	0.736000														14			9		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62203493	62203493	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62203493G>A	uc002yfm.2	-	1	1138	c.246C>T	c.(244-246)ccC>ccT	p.P82P	PRIC285_uc002yfn.2_Silent_p.P82P	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	82					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			AGAGTCCCGGGGGTGGGGAAC	0.632000														15			5		0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100564756	100564756	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:100564756C>T	uc021rcm.1	-	1		c.242G>A			GOLGA2P5_uc001tgz.4_Non-coding_Transcript					Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 1, non-coding RNA.																		TGGTGGCACTCTTTCTTTTCC	0.522000														119			32		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18391011	18391011	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:18391011C>T	uc003cbh.3	-	10	3678	c.1943G>A	c.(1942-1944)cGa>cAa	p.R648Q	SATB1_uc003cbi.3_Missense_Mutation_p.R680Q|SATB1_uc003cbj.3_Missense_Mutation_p.R648Q	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	648					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						AATTTTTGTTCGTGGCCGGGT	0.587000														87			35		0	0	1	0	0
TMEM218	219854	broad.mit.edu	37	11	124967604	124967604	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124967604G>A	uc001qbs.3	-	3	898	c.246C>T	c.(244-246)gtC>gtT	p.V82V	TMEM218_uc010sax.2_Silent_p.V82V|TMEM218_uc010saw.2_Silent_p.V117V|TMEM218_uc001qbt.3_Silent_p.V117V|TMEM218_uc010say.2_Non-coding_Transcript	NM_001080546	NP_001074015	A2RU14	TM218_HUMAN	Homo sapiens transmembrane protein 218 (TMEM218), mRNA.	82						integral to membrane		p.V82V(2)		breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						AAGCCAGCAGGACATAGCGGC	0.448000														36			7		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72324234	72324234	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72324234G>A	uc001jrd.4	+	18	2658	c.2377G>A	c.(2377-2379)Gcc>Acc	p.A793T	KIAA1274_uc001jre.4_Missense_Mutation_p.A84T	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	793										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						CCTGGAGAAGGCCGACTCCTG	0.642000														134			49		0	0	1	0	0
NIM1	167359	broad.mit.edu	37	5	43246021	43246021	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:43246021C>T	uc003jno.3	+	1	1025	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA.	48							ATP binding|magnesium ion binding|protein serine/threonine kinase activity										TGACGCCCTTCGAGAAACTGA	0.582000														114			22		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62550251	62550251	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62550251G>A	uc001dab.3	+	32	4422	c.4308G>A	c.(4306-4308)atG>atA	p.M1436I	INADL_uc009waf.1_Missense_Mutation_p.M1436I|INADL_uc001daa.2_Missense_Mutation_p.M1436I|INADL_uc001dad.3_Missense_Mutation_p.M1133I|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.M220I|INADL_uc009wag.3_Missense_Mutation_p.M220I|INADL_uc010oou.1_Missense_Mutation_p.M109I	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1436					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GACAGGAAATGATTATAGAAA	0.468000														86			21		0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104235581	104235581	+	Missense_Mutation	SNP	A	C	C	rs144994591		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104235581A>C	uc001kvt.3	+	9	1613	c.1394A>C	c.(1393-1395)cAg>cCg	p.Q465P	TMEM180_uc010qql.2_Missense_Mutation_p.Q194P|TMEM180_uc010qqm.1_Intron	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	Homo sapiens transmembrane protein 180 (TMEM180), mRNA.	465						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACGCTCCGCCAGGGCTGCTTC	0.652000														37			14		0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362255	49362255	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49362255G>A	uc002pkx.3	-	7	1385	c.834C>T	c.(832-834)gtC>gtT	p.V278V	PLEKHA4_uc010eml.3_Silent_p.V278V	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	278	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GAGGAGGTCGGACATCAATGC	0.706000														30			11		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42509145	42509145	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:42509145G>A	uc003gwr.2	-	22	2206	c.1974C>T	c.(1972-1974)gcC>gcT	p.A658A	ATP8A1_uc003gwq.2_5'UTR|ATP8A1_uc003gws.2_Silent_p.A643A	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	658					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TATCCTCAATGGCTGTTGCTC	0.343000														123			40		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25308672	25308673	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25308672_25308673GG>AA	uc003abg.2	+	22	3203_3204	c.3046_3047GG>AA	c.(3046-3048)gga>AAa	p.G1016K	SGSM1_uc010guu.1_Missense_Mutation_p.G961K|SGSM1_uc003abh.2_Missense_Mutation_p.G955K|SGSM1_uc003abj.2_Missense_Mutation_p.G900K|SGSM1_uc003abi.1_Missense_Mutation_p.G936K	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	1016	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTTCCCCCACGGAGGCGCCATG	0.510000														39			4		0	0	1	0	0
MFSD9	84804	broad.mit.edu	37	2	103335015	103335015	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103335015G>A	uc002tcb.2	-	5	1357	c.1289C>T	c.(1288-1290)tCg>tTg	p.S430L	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.S369L	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	430					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GGCAACCCCCGAGAGGAGAGG	0.637000														62			13		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46713060	46713060	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46713060C>T	uc003cqa.2	-	24	2892	c.2699G>A	c.(2698-2700)gGa>gAa	p.G900E	ALS2CL_uc003cpx.2_Missense_Mutation_p.G247E|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Missense_Mutation_p.G415E|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.G900E	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	900	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GATCTCGGCTCCCAGGTGCTG	0.617000														65			14		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059716	152059716	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152059716C>T	uc001ezo.1	-	2	507	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	148							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)			GCTCCACTTTCTTCAGGGATG	0.468000														84			36		0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25057715	25057715	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:25057715C>T	uc010ykm.2	-	8	1952	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K	ADCY3_uc002rfr.4_Missense_Mutation_p.E218K|ADCY3_uc002rfs.4_Missense_Mutation_p.E585K	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	585					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TGGTTGAGCTCGTGCTCATCT	0.662000														22			6		0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98189116	98189116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:98189116G>A	uc003dsm.3	+	0	696	c.696G>A	c.(694-696)gaG>gaA	p.E232E		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AATCCAAAGAGGGAAGGGCCA	0.343000														97			42		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14498703	14498703	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:14498703C>T	uc003jff.3	+	52	8292	c.8286C>T	c.(8284-8286)gtC>gtT	p.V2762V	TRIO_uc003jfg.3_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2762	Ig-like C2-type.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCATCGCTGTCAATGACATGG	0.587000														87			42		0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30682303	30682303	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:30682303G>A	uc003ahd.3	-	5	822	c.692C>T	c.(691-693)tCc>tTc	p.S231F	TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Intron|TBC1D10A_uc003ahi.3_Intron|TBC1D10A_uc010gvq.3_Intron|TBC1D10A_uc010gvr.3_3'UTR	NM_001037666	NP_001032755	Q9BXI6	TB10A_HUMAN	Homo sapiens GATS protein-like 3 (GATSL3), mRNA.	0	Rab-GAP TBC.					intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTCGATGAGGGAGAAGGCAAA	0.592000														49			10		0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15904925	15904925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15904925C>T	uc010xos.2	+	0	67	c.67C>T	c.(67-69)Ctc>Ttc	p.L23F		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CTTCCCCCACCTCCAGCTGAT	0.587000														178			60		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75072303	75072303	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75072303C>T	uc001dgg.3	-	9	1690	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E285K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	491	Glu-rich.									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						AAAGTATTTTCCTGGTCGTCT	0.358000														181			12		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47746586	47746586	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47746586G>A	uc003gxm.3	-	4	725	c.632C>T	c.(631-633)cCc>cTc	p.P211L	CORIN_uc011bzf.2_Missense_Mutation_p.P72L|CORIN_uc011bzg.2_Missense_Mutation_p.P144L|CORIN_uc011bzh.1_Missense_Mutation_p.P211L|CORIN_uc011bzi.1_Missense_Mutation_p.P211L|CORIN_uc003gxn.4_Missense_Mutation_p.P211L	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	211	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GGACCTACAGGGCAGGAGTCC	0.413000														126			48		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118293378	118293378	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:118293378G>A	uc001two.2	-	2	295	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	109					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCGGGGGAGATTTCCTAGA	0.602000														30			9		0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294023	124294023	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124294023G>A	uc010sak.2	-	0	745	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		CCAAAAAACAGAGCAACAGCA	0.458000														64			7		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51752006	51752006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51752006C>T	uc001ryk.2	-	7	1633	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.E470K|GALNT6_uc001ryj.1_Missense_Mutation_p.E35K	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	470					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGCAGTTGTTCCCTCAGCTGC	0.463000														111			48		0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159080	39159080	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:39159080C>T	uc003oon.3	-	4	1450	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	362					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						CTTTGCTCCTCAGTGTCTGTG	0.632000														38			13		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804695	54804695	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:54804695C>T	uc003pck.3	+	4	1042	c.926C>T	c.(925-927)tCg>tTg	p.S309L		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	309										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TACCAGCATTCGGTGTCTTCA	0.433000														95			26		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411603	51411603	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:51411603C>T	uc001nhi.2	-	0	846	c.793G>A	c.(793-795)Gat>Aat	p.D265N		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T264S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ATGAACTTATCAGTAGGAAAG	0.363000														73			21		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76569600	76569600	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:76569600G>A	uc002fex.1	+	16	3062	c.2923G>A	c.(2923-2925)Gga>Aga	p.G975R	CNTNAP4_uc002feu.1_Missense_Mutation_p.G971R|CNTNAP4_uc002fev.1_Missense_Mutation_p.G836R|CNTNAP4_uc010chb.1_Missense_Mutation_p.G899R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	972	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATGCCGCAATGGAGGGAAATG	0.502000														30			13		0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145415632	145415632	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:145415632G>A	uc001eni.2	+	2	776	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	HFE2_uc001enk.2_Missense_Mutation_p.E38K|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	151					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGACTATGAAGGCCGGTT	0.697000														35			8		0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215259778	215259778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:215259778C>T	uc001hkq.3	+	1	283	c.114C>T	c.(112-114)tcC>tcT	p.S38S	KCNK2_uc001hko.3_Silent_p.S34S|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.4_Silent_p.S23S	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	38							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TCTCGTTTTCCACGAAACCCA	0.512000														57			18		0	0	1	0	0
XAF1	54739	broad.mit.edu	37	17	6663021	6663021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:6663021C>T	uc002gdn.3	+	2	451	c.209C>T	c.(208-210)tCg>tTg	p.S70L	XAF1_uc010clr.1_Missense_Mutation_p.S70L|XAF1_uc002gdm.1_Missense_Mutation_p.S10L|XAF1_uc002gdo.3_Intron|XAF1_uc002gdp.3_Missense_Mutation_p.R48C|XAF1_uc002gdq.3_Intron|XAF1_uc002gdr.3_Intron	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN	Homo sapiens XIAP associated factor 1 (XAF1), transcript variant 1, mRNA.	70					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						CAGAAGTCCTCGCTGGAGTTT	0.517000														62			17		0	0	1	0	0
MMP7	4316	broad.mit.edu	37	11	102398304	102398304	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102398304C>T	uc001phb.3	-	2	482	c.435G>A	c.(433-435)agG>agA	p.R145R	MMP7_uc009yxd.3_Silent_p.R145R|MMP7_uc010rus.1_Silent_p.R145R	NM_002423	NP_002414	P09237	MMP7_HUMAN	Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.	145					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)		ATACAACTTTCCTGAAATGCA	0.443000														98			43		0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60359414	60359415	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:60359414_60359415GG>AA	uc001czq.3	-	8	1422_1423	c.1417_1418CC>TT	c.(1417-1419)ccc>TTc	p.P473F		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	473					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					ATTGTTTGGGGGCCTGAAGGTA	0.460000														315			121		0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205549071	205549071	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205549071C>T	uc001hcv.4	+	1	509	c.423C>T	c.(421-423)ttC>ttT	p.F141F	MFSD4_uc010prk.2_Silent_p.F141F|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.F86F	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	141					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CGGCCGTCTTCCTCCAGGTAA	0.672000														35			12		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20725319	20725319	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:20725319G>A	uc010kuh.3	+	16	2107	c.1870_splice	c.e16-1	p.D624_splice	ABCB5_uc003suw.4_Splice_Site_p.D179_splice	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	179	ABC transporter 2.				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						TTCCTGTAAGGATATTAAAAA	0.343000														43			15		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052906	44052906	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:44052906C>T	uc001jaw.4	-	1	1275	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	ZNF239_uc001jax.4_Missense_Mutation_p.E208K|ZNF239_uc009xmj.3_Missense_Mutation_p.E208K|ZNF239_uc009xmk.3_Missense_Mutation_p.E208K|ZNF239_uc021pph.1_Missense_Mutation_p.E208K	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGACTACATTCGTATTGTTTC	0.423000														73			27		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140729881	140729881	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140729881C>T	uc003ljo.2	+	0	54	c.54C>T	c.(52-54)ttC>ttT	p.F18F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.F18F	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	0					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)			TGTTTCCCTTCCTGCTGTCTT	0.522000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			8		0	0	1	0	0
ACTG2	72	broad.mit.edu	37	2	74141990	74141990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74141990C>T	uc002sjw.3	+	6	919	c.797C>T	c.(796-798)tCc>tTc	p.S266F	ACTG2_uc010yrn.2_Missense_Mutation_p.S223F|ACTG2_uc010fey.3_Missense_Mutation_p.S266F	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	266					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						TTCCAGCCTTCCTTTATTGGT	0.577000														61			20		0	0	1	0	0
PXMP2	5827	broad.mit.edu	37	12	133272542	133272542	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:133272542C>T	uc001ukt.3	+	2	374	c.309C>T	c.(307-309)ccC>ccT	p.P103P	PGAM5_uc010tbr.2_Intron	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN	Homo sapiens peroxisomal membrane protein 2, 22kDa (PXMP2), mRNA.	103						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CTGAGGTCCCCCTGGCAGGGC	0.572000														51			6		0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36291092	36291092	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36291092G>C	uc002obx.1	-	10	1477	c.1459C>G	c.(1459-1461)Ccc>Gcc	p.P487A	AK055260_uc002obw.1_5'Flank	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	487					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGCCATAGGGAATGGACTTA	0.557000														8			4		0	0	1	0	0
ATG4B	23192	broad.mit.edu	37	2	242598552	242598552	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242598552C>T	uc002wbv.3	+	6	591	c.488C>T	c.(487-489)tCc>tTc	p.S163F	ATG4B_uc002wbu.3_Missense_Mutation_p.S89F|ATG4B_uc002wbw.3_Missense_Mutation_p.S163F|ATG4B_uc010zox.2_Missense_Mutation_p.S149F|ATG4B_uc010zoy.2_Missense_Mutation_p.S89F|ATG4B_uc010fzp.3_Missense_Mutation_p.S163F|ATG4B_uc010zoz.2_Missense_Mutation_p.S89F	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog B (S. cerevisiae) (ATG4B), transcript variant 1, mRNA.	163					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		ACGTGGAGCTCCTTGGCGGTC	0.453000														24			12		0	0	1	0	0
NR1I3	9970	broad.mit.edu	37	1	161205715	161205715	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161205715C>T	uc001fzx.3	-	2	363	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Missense_Mutation_p.E54K|NR1I3_uc001fzm.3_5'UTR|NR1I3_uc001fzn.3_5'UTR|NR1I3_uc001fzf.3_Missense_Mutation_p.E54K|NR1I3_uc009wug.3_5'UTR|NR1I3_uc001fzo.3_5'UTR|NR1I3_uc001fzt.3_5'UTR|NR1I3_uc001fzs.3_5'UTR|NR1I3_uc001fzr.3_Missense_Mutation_p.E54K|NR1I3_uc001fzq.3_Missense_Mutation_p.E54K|NR1I3_uc001fzv.3_Missense_Mutation_p.E25K|NR1I3_uc001fzu.3_Missense_Mutation_p.E25K|NR1I3_uc001fzy.3_Missense_Mutation_p.E54K|NR1I3_uc001fzw.3_Missense_Mutation_p.E54K|NR1I3_uc001fzz.3_Missense_Mutation_p.E54K|NR1I3_uc001fzh.3_Missense_Mutation_p.E25K|NR1I3_uc001gab.3_Missense_Mutation_p.E54K|NR1I3_uc001gac.3_Missense_Mutation_p.E25K|NR1I3_uc001fzp.3_Missense_Mutation_p.E54K|NR1I3_uc001fzg.3_Missense_Mutation_p.E25K|NR1I3_uc001gaa.3_Missense_Mutation_p.E54K|NR1I3_uc001fzj.3_Missense_Mutation_p.E25K|NR1I3_uc001fzi.3_Missense_Mutation_p.E25K|NR1I3_uc001fzl.3_Missense_Mutation_p.E25K|NR1I3_uc001fzk.3_Missense_Mutation_p.E25K|NR1I3_uc010pkm.2_Missense_Mutation_p.E25K|NR1I3_uc010pkn.1_Missense_Mutation_p.E54K	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.	54					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TTGCTGACTTCACAGCTTCCA	0.532000														65			14		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151156198	151156198	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151156198G>A	uc011bod.2	-	5	6151	c.6151C>T	c.(6151-6153)Ctc>Ttc	p.L2051F	IGSF10_uc011bob.2_Missense_Mutation_p.L78F|IGSF10_uc011boc.2_Missense_Mutation_p.L30F	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2051	Ig-like C2-type 7.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCCCATGGAGCACTTGCTTT	0.438000														125			41		0	0	1	0	0
TPTEP1	387590	broad.mit.edu	37	22	17119552	17119552	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17119552C>T	uc002zls.1	+	1		c.389C>T			TPTEP1_uc002zlr.3_Non-coding_Transcript|TPTEP1_uc002zlt.3_Non-coding_Transcript					Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		CTTTATATTCCTTCGGAGTAT	0.348000														80			24		0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71604216	71604216	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71604216G>A	uc002fap.2	-	8	1096	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	333					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CCCGGGGTGCGACATAGGATG	0.547000														52			22		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166900351	166900351	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166900351T>A	uc002udo.4	-	12	2098	c.1871A>T	c.(1870-1872)cAg>cTg	p.Q624L	SCN1A_uc010fpk.3_Missense_Mutation_p.Q624L|SCN1A_uc021vsb.1_Missense_Mutation_p.Q624L	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	624						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCTACTGGTCTGACTCAGGTT	0.537000														70			19		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70017033	70017033	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70017033C>T	uc001opj.3	+	21	2543	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc010rqk.2_Silent_p.F455F|ANO1_uc010rql.1_5'UTR	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	746					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TCGCCTCCTTCCCCCTGGCCC	0.587000														18			6		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129905716	129905716	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:129905716G>A	uc001lke.3	-	12	4583	c.4388C>T	c.(4387-4389)cCc>cTc	p.P1463L	MKI67_uc001lkf.3_Missense_Mutation_p.P1103L|MKI67_uc009yav.1_Missense_Mutation_p.P1038L|MKI67_uc009yaw.1_Missense_Mutation_p.P613L	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1463	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)				GTCTTCTAGGGGTTGGGCCTT	0.493000														256			65		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187206877	187206877	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187206877C>T	uc003iza.1	+	11	1723	c.1390C>T	c.(1390-1392)Caa>Taa	p.Q464*		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	464	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CTTTGGGGTTCAAGAAATAAT	0.378000														92			56		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377329	77377329	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77377329C>T	uc004ajl.1	-	25	4496	c.4258G>A	c.(4258-4260)Gca>Aca	p.A1420T	TRPM6_uc004ajk.1_Missense_Mutation_p.A1415T|TRPM6_uc022bib.1_Missense_Mutation_p.A1415T|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.A376T	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1420					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACTTGCTCTGCCTTGTCTTGT	0.512000														63			27		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110439312	110439312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110439312G>A	uc003yne.3	+	24	3031	c.2927G>A	c.(2926-2928)cGa>cAa	p.R976Q		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	976					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TCAGTTACACGAGAGGGAACC	0.542000										HNSCC(38;0.096)				62			11		0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90651116	90651116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:90651116G>A	uc001xye.1	+	1	1438	c.996G>A	c.(994-996)gtG>gtA	p.V332V		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	332						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.G331V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CAGACGGGGTGGCAGAGAGTG	0.617000														70			36		0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105218356	105218356	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105218356G>A	uc001kxe.2	-	0	293	c.153C>T	c.(151-153)gcC>gcT	p.A51A		NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	Homo sapiens calcium homeostasis modulator 1 (CALHM1), mRNA.	51						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CCGCGCTGTAGGCTGCATTGT	0.612000														74			22		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39927939	39927939	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39927939C>T	uc002hxq.2	-	1	445	c.168G>A	c.(166-168)aaG>aaA	p.K56K	JUP_uc010wfs.2_Silent_p.K56K|JUP_uc002hxr.2_Silent_p.K56K|JUP_uc002hxs.2_Silent_p.K56K	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	56					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGGTGGTTTTCTTGAGCGTGT	0.637000														33			33		0	0	1	0	0
AKR7L	246181	broad.mit.edu	37	1	19595801	19595801	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:19595801G>A	uc021ohn.1	-	4	669	c.159C>T	c.(157-159)ttC>ttT	p.F53F	AKR7L_uc021oho.1_Intron					Homo sapiens aldo-keto reductase family 7-like (AKR7L), transcript variant 1, non-coding RNA.											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GAGTCCCAAAGAAGCGGCCCA	0.592000														84			26		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301413	11301413	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:11301413C>T	uc010hdr.3	+	1	1032	c.690C>T	c.(688-690)tcC>tcT	p.S230S	HRH1_uc010hds.3_Silent_p.S230S|HRH1_uc010hdt.3_Silent_p.S230S|HRH1_uc003bwb.4_Silent_p.S230S|HRH1_uc021wtb.1_Silent_p.S230S	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	230					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCAATAGGTCCCTCCCTTCCT	0.537000														61			32		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074222	9074222	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9074222G>A	uc002mkp.3	-	2	13428	c.13224C>T	c.(13222-13224)acC>acT	p.T4408T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4410	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						AGTAAGGCATGGTTGATGTGT	0.473000														136			38		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215263	140215263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140215263C>T	uc003lhq.2	+	0	1295	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	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_uc011dac.2_Missense_Mutation_p.S432L	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	446	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)			GACGGGGGCTCGCCTTCTCTG	0.622000														142			54		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372173	126372173	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126372173C>T	uc003ifj.4	+	8	10002	c.10002C>T	c.(10000-10002)caC>caT	p.H3334H	FAT4_uc011cgp.2_Silent_p.H1632H|FAT4_uc003ifi.1_Silent_p.H812H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3334	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGGAGGTACACTATTTGATTT	0.378000														142			28		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71575494	71575494	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:71575494C>T	uc001xmo.2	+	33	6921	c.6475C>T	c.(6475-6477)Cga>Tga	p.R2159*	PCNX_uc010are.1_Nonsense_Mutation_p.R2048*|PCNX_uc010arf.1_Nonsense_Mutation_p.R947*|PCNX_uc001xmp.2_Nonsense_Mutation_p.R243*	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	2159	Ser-rich.					integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GATATCGCTTCGAAACTTGCC	0.562000														65			10		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280694	152280694	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152280694G>A	uc001ezu.1	-	2	6704	c.6668C>T	c.(6667-6669)tCa>tTa	p.S2223L		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2223	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCACCAGTGAGTGTCTAGA	0.542000									Ichthyosis					266			122		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156741403	156741403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156741403G>A	uc021ygm.1	+	11	1297	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	CYFIP2_uc011ddn.2_Missense_Mutation_p.E362K|CYFIP2_uc011ddo.2_Missense_Mutation_p.E192K|CYFIP2_uc021ygn.1_Missense_Mutation_p.E387K|CYFIP2_uc021ygo.1_Missense_Mutation_p.E387K|CYFIP2_uc003lwt.3_Missense_Mutation_p.E266K|CYFIP2_uc011ddp.2_Missense_Mutation_p.E122K	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	388					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGAGTATCGCGAGCTCTTCGA	0.587000														67			29		0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120301848	120301848	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:120301848G>A	uc001eid.3	-	3	831	c.743C>T	c.(742-744)tCg>tTg	p.S248L	HMGCS2_uc010oxj.2_Missense_Mutation_p.S206L|HMGCS2_uc021osw.1_Missense_Mutation_p.S14L|HMGCS2_uc021osx.1_Intron	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	248					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TGGGTACTCCGAGGCCAAATT	0.468000														69			36		0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35846306	35846306	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35846306G>A	uc003zyo.3	+	7	1713	c.425G>A	c.(424-426)aGg>aAg	p.R142K	TMEM8B_uc003zyk.3_Missense_Mutation_p.R142K|TMEM8B_uc003zym.3_Missense_Mutation_p.R142K|TMEM8B_uc003zyn.3_Silent_p.Q37Q	NM_001042590	NP_001036055	A6NDV4	TMM8B_HUMAN	Homo sapiens transmembrane protein 8B (TMEM8B), transcript variant 1, mRNA.	142					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						AGGGTTGCCAGGCTGCGAATC	0.687000														69			10		0	0	1	0	0
LOC440518	440518	broad.mit.edu	37	19	22783059	22783059	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22783059G>A	uc002nqu.4	+	4		c.566G>A								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		GGAGGAGCTGGAGAGTCTGGC	0.632000														8			3		0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36110939	36110939	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36110939C>T	uc002oam.1	+	15	1483	c.1432C>T	c.(1432-1434)Cca>Tca	p.P478S		NM_015302	NP_056117	O94927	HAUS5_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA.	478					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CACGGTCCTCCCATCCATCCA	0.672000														215			86		0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15497228	15497228	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:15497228C>T	uc003nbj.3	+	6	2016	c.1772C>T	c.(1771-1773)cCc>cTc	p.P591L	JARID2_uc011diu.1_Missense_Mutation_p.P455L|JARID2_uc011div.2_Missense_Mutation_p.P419L|JARID2_uc011diw.1_Missense_Mutation_p.P553L	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	591	JmjN.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGGGTGATCCCCCCTCCGGAC	0.642000														26			4		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386636	56386636	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56386636G>A	uc002ivx.4	-	21	4868	c.3997C>T	c.(3997-3999)Ccg>Tcg	p.P1333S	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.P1273S|BZRAP1_uc010wnt.2_Missense_Mutation_p.P1333S	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1333						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					tcctcctccGGGATGCTAAAG	0.597000														46			16		0	0	1	0	0
OR3A2	4995	broad.mit.edu	37	17	3181574	3181574	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3181574G>A	uc002fvg.3	-	0	695	c.656C>T	c.(655-657)cCt>cTt	p.P219L		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	219					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GAGAACCAAAGGTGTGCCTGC	0.557000														53			11		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244352	56244352	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56244352T>C	uc002qly.3	-	1	873	c.845A>G	c.(844-846)aAa>aGa	p.K282R		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	282	NACHT.					cytoplasm	ATP binding	p.Q281Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAAATAGTGTTTTTGCATAGC	0.403000														71			28		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	48098736	48098736	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:48098736G>A	uc002xur.1	-	0	448	c.282C>T	c.(280-282)tcC>tcT	p.S94S	KCNB1_uc002xus.1_Silent_p.S94S	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	94					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGTTGAGGATGGAGGTGAAGG	0.597000														52			12		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56137941	56137941	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:56137941C>T	uc002xyn.4	+	3	759	c.596C>T	c.(595-597)cCt>cTt	p.P199L	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	199					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GTGGGGTGCCCTCTGCCTTTA	0.527000														50			5		0	0	1	0	0
GPR31	2853	broad.mit.edu	37	6	167570885	167570885	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:167570885G>A	uc011egq.2	-	0	435	c.435C>T	c.(433-435)ctC>ctT	p.L145L		NM_005299	NP_005290	O00270	GPR31_HUMAN	Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA.	145						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		CCGGGCAGGTGAGGGCGACCA	0.647000														42			25		0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233245010	233245010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233245010G>A	uc002vsq.3	+	5	937	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	258						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCTGGTGCAGGAATGGCTGGC	0.647000														97			31		0	0	1	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261824	23261824	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:23261824G>A	uc001yvh.1	+	10	1235	c.693G>A	c.(691-693)agG>agA	p.R231R	DQ582939_uc021sfm.1_5'Flank|DQ578838_uc021sfn.1_5'Flank|DQ588973_uc001yvl.3_5'Flank					Homo sapiens golgin A8 family, member I, pseudogene (GOLGA8IP), non-coding RNA.											endometrium(1)|lung(2)|prostate(1)	4						AGCACCTGAGGAAGGAACTAG	0.577000														92			18		0	0	1	0	0
RGS4	5999	broad.mit.edu	37	1	163042253	163042253	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:163042253C>T	uc001gcl.4	+	2	733	c.404C>T	c.(403-405)tCc>tTc	p.S135F	RGS4_uc009wuy.3_Missense_Mutation_p.S38F|RGS4_uc009wuz.3_Missense_Mutation_p.S38F|RGS4_uc009wva.3_Missense_Mutation_p.S20F	NM_001102445	NP_001106851	P49798	RGS4_HUMAN	Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA.	38	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity	p.E135K(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						CACAATTCTTCCCACAACAAG	0.383000														64			29		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34090712	34090712	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34090712G>A	uc001bxm.1	-	33	5616	c.5439C>T	c.(5437-5439)atC>atT	p.I1813I	CSMD2_uc001bxn.1_Silent_p.I1773I|CSMD2_uc001bxo.1_Silent_p.I686I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1773	CUB 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAGGCACTCGATCTCTGGCG	0.657000														66			27		0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487739	248487739	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248487739G>A	uc010pzk.2	-	0	132	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I44L(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			GGAGAACCATGATGGAGTTTC	0.532000														324			113		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79392661	79392661	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:79392661G>A	uc001diq.4	-	7	1149	c.993C>T	c.(991-993)gtC>gtT	p.V331V		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	331					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTGAAGATATGACTCTTTCCT	0.318000														71			25		0	0	1	0	0
C6orf89	221477	broad.mit.edu	37	6	36882161	36882161	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:36882161C>T	uc003omw.3	+	3	689	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	C6orf89_uc003omv.3_Silent_p.L63L|C6orf89_uc003omx.3_Silent_p.L169L|C6orf89_uc011dtr.2_Silent_p.L63L	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	169						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						GGTGATGCTCCTGGAAGACGC	0.542000														60			19		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100386959	100386959	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100386959G>A	uc003uwj.3	+	39	7509	c.7344G>A	c.(7342-7344)agG>agA	p.R2448R	ZAN_uc003uwk.3_Silent_p.R2448R|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.R499R	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2449	VWFD 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTGGTGGAAGGAAAAATGCAG	0.537000														65			35		0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6930397	6930397	+	Silent	SNP	G	A	A	rs117980493	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:6930397G>A	uc010clt.1	+	7	1376	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K	BCL6B_uc002geg.2_Silent_p.K438K	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	438						nucleus	zinc ion binding			skin(1)	1						CCGGAGAGAAGCCTTACCACG	0.632000														43			15		0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923308	43923308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:43923308C>T	uc010wka.2	+	0	1053	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	346						integral to membrane	aspartic-type endopeptidase activity										CAATGAGGACCGCTGGGCGTG	0.637000														23			17		0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68842665	68842665	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:68842665C>T	uc002ewg.1	+	4	725	c.601C>T	c.(601-603)Cct>Tct	p.P201S	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Missense_Mutation_p.P201S	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	201	Cadherin 1.				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.?(2)|p.P201fs*14(1)|p.201fs*14(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)		TGACACACCCCCTGTTGGTGT	0.413000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer					49			16		0	0	1	0	0
PLD4	122618	broad.mit.edu	37	14	105398476	105398476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105398476G>A	uc010tyl.1	+	8	1365	c.1207G>A	c.(1207-1209)Gcg>Acg	p.A403T	PLD4_uc001ypu.1_Missense_Mutation_p.A396T	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	Homo sapiens phospholipase D family, member 4 (PLD4), mRNA.	396					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	GTCCCTGCAGGCGCTCAGCAA	0.731000														22			7		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15580433	15580433	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15580433G>A	uc002nbg.3	-	3	1784	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C	PGLYRP2_uc002nbf.4_Intron	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	0					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TGCAGGCTGCGAAGACTCACC	0.716000														2			13		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30795606	30795606	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:30795606C>T	uc010xbr.1	-	17	2128	c.1986G>A	c.(1984-1986)atG>atA	p.M662I	C18orf34_uc010dme.1_Missense_Mutation_p.M176I|C18orf34_uc002kxn.2_Missense_Mutation_p.M662I|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.M624I|C18orf34_uc002kxp.3_Missense_Mutation_p.M662I	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	662								p.M624I(1)|p.M662I(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						CATAAAAAATCATTGTCTTAC	0.254000														33			4		0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17422449	17422449	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17422449C>T	uc001baf.3	-	3	448	c.366G>A	c.(364-366)gtG>gtA	p.V122V	PADI2_uc010ocm.2_Silent_p.V122V|PADI2_uc001bag.1_Silent_p.V122V	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	122					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.V122L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GGTCTGCGTCCACATCCAGGG	0.602000														109			50		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141497486	141497486	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:141497486G>A	uc011bnd.2	+	0	444	c.360G>A	c.(358-360)ggG>ggA	p.G120G		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	120	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTGCCCCGGGGAACCCGCAAC	0.672000														33			9		0	0	1	0	0
TMEM48	55706	broad.mit.edu	37	1	54262797	54262797	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:54262797G>A	uc001cvs.3	-	11	1534	c.1243C>T	c.(1243-1245)Cca>Tca	p.P415S	TMEM48_uc010onu.2_Missense_Mutation_p.P375S|TMEM48_uc001cvt.3_Missense_Mutation_p.P292S|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_Missense_Mutation_p.P80S	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	415					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						CTAGATTTTGGTGTCTGAAAA	0.428000														63			32		0	0	1	0	0
SLC16A7	9194	broad.mit.edu	37	12	60165033	60165033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:60165033G>A	uc001sqs.3	+	3	550	c.251G>A	c.(250-252)gGc>gAc	p.G84D	SLC16A7_uc001sqt.3_Missense_Mutation_p.G84D|SLC16A7_uc001squ.3_Missense_Mutation_p.G84D|SLC16A7_uc009zqi.3_5'UTR|SLC16A7_uc010ssi.2_5'UTR	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	84						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	AATAAATACGGCAGCCGGCCG	0.443000														188			28		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22362829	22362829	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22362829C>T	uc002nqs.1	-	2	2008	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	564					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)				CCACATTCTTCACATTTGTAG	0.378000														90			34		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71742858	71742858	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71742858G>A	uc010fen.3	+	7	1006	c.865G>A	c.(865-867)Gga>Aga	p.G289R	DYSF_uc010fei.3_Missense_Mutation_p.G288R|DYSF_uc010feh.3_Missense_Mutation_p.G257R|DYSF_uc002sig.4_Missense_Mutation_p.G257R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.G288R|DYSF_uc010fee.3_Missense_Mutation_p.G257R|DYSF_uc010fef.3_Missense_Mutation_p.G288R|DYSF_uc002sie.3_Missense_Mutation_p.G257R|DYSF_uc010feo.3_Missense_Mutation_p.G289R|DYSF_uc010fej.3_Missense_Mutation_p.G258R|DYSF_uc010fel.3_Missense_Mutation_p.G258R|DYSF_uc010fem.3_Missense_Mutation_p.G258R|DYSF_uc002sif.3_Missense_Mutation_p.G258R|DYSF_uc010fek.3_Missense_Mutation_p.G289R	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	257	C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GATCCACAAGGGAAACAGCCC	0.612000														54			17		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999572	46999572	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:46999572C>T	uc001jec.3	+	2	827	c.692C>T	c.(691-693)cCa>cTa	p.P231L	GPRIN2_uc021ppt.1_Missense_Mutation_p.P231L	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	231										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCTCTGCCCCCAGCTGCTCTA	0.627000														38			15		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129168726	129168726	+	Silent	SNP	C	T	T	rs139138308		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:129168726C>T	uc003eml.3	+	1	260	c.54C>T	c.(52-54)atC>atT	p.I18I	IFT122_uc003emm.3_Silent_p.I18I|IFT122_uc003emn.3_Silent_p.I18I|IFT122_uc003emo.3_Silent_p.I18I|IFT122_uc003emp.3_5'UTR|IFT122_uc010htc.3_Silent_p.I18I|IFT122_uc011bky.2_5'UTR|IFT122_uc011bkx.1_Silent_p.I18I	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	18					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						TAAATGACATCGCATTTAAGC	0.393000														112			40		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218616	130218616	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:130218616G>A	uc004evz.3	+	5	1110	c.765G>A	c.(763-765)ggG>ggA	p.G255G	ARHGAP36_uc004ewa.3_Silent_p.G243G|ARHGAP36_uc004ewb.3_Silent_p.G224G|ARHGAP36_uc004ewc.3_Silent_p.G119G	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	255	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.V254M(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCGCAGTGGGGATTTTTACCC	0.488000														43			47		0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50671870	50671870	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50671870G>A	uc003bkb.1	-	2	1503	c.991C>T	c.(991-993)Ctc>Ttc	p.L331F	TUBGCP6_uc010har.1_Missense_Mutation_p.L331F|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	331					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)		AGCAGCTGGAGCTCCCCTTGG	0.647000														19			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074991	9074991	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9074991G>A	uc002mkp.3	-	2	12659	c.12455C>T	c.(12454-12456)tCt>tTt	p.S4152F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4154	Ser-rich.|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						TTCTTCCACAGAGGGAGGGCT	0.498000														100			8		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220504278	220504278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220504278C>T	uc002vmo.4	+	19	3388	c.3179C>T	c.(3178-3180)tCc>tTc	p.S1060F	SLC4A3_uc002vmp.4_Missense_Mutation_p.S1033F|SLC4A3_uc010fwm.3_Missense_Mutation_p.S583F	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	1033	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCATTGGCTCCCTGGGGGGG	0.652000														81			31		0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079869	70079869	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:70079869G>A	uc003heh.3	-	0	581	c.572C>T	c.(571-573)cCt>cTt	p.P191L	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	191					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						TATGTAGGAAGGAGGGAAAAT	0.403000														114			14		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37002154	37002154	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:37002154G>A	uc002rpl.3	+	8	1048	c.746G>A	c.(745-747)aGg>aAg	p.R249K	VIT_uc002rpm.3_Missense_Mutation_p.R249K|VIT_uc010ezv.3_Intron|VIT_uc010ezw.3_Missense_Mutation_p.R249K	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	249						proteinaceous extracellular matrix		p.R249R(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GGTATCCAAAGGCAAGATCCT	0.507000														33			25		0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41476767	41476767	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:41476767C>T	uc010ucv.2	-	11	1353	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	EXD1_uc001znj.3_Missense_Mutation_p.E101K|EXD1_uc001znk.3_Missense_Mutation_p.E303K	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	303					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TGAAGCAGTTCCTCTGGCAGC	0.408000														68			32		0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149002610	149002610	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:149002610C>T	uc003ilj.4	-	8	3203	c.2840G>A	c.(2839-2841)cGa>cAa	p.R947Q	NR3C2_uc003ilk.4_Missense_Mutation_p.R830Q|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	947	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ATGGGACTCTCGGAAGGTGTA	0.602000														44			21		0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55726102	55726102	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55726102C>T	uc010spj.2	+	0	618	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						CTTTGCTGTTCACTTTGGCAT	0.368000														156			43		0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1331458	1331458	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:1331458C>T	uc004cpk.2	-	0	72	c.70G>A	c.(70-72)Gga>Aga	p.G24R	CRLF2_uc022brt.1_Missense_Mutation_p.G24R|CRLF2_uc004cpl.2_5'UTR|CRLF2_uc022brs.1_Missense_Mutation_p.G24R	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	24						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCTGCTCCTCCTTGCCCCAAA	0.488000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									34			8		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7569539	7569539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7569539C>T	uc003mxp.1	+	11	1819	c.1540C>T	c.(1540-1542)Cct>Tct	p.P514S	DSP_uc003mxq.1_Missense_Mutation_p.P514S|DSP_uc021yle.1_Missense_Mutation_p.P514S	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	514	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		GATCATCCCTCCTCCGAACCC	0.577000														96			25		0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210411339	210411339	+	Missense_Mutation	SNP	G	A	A	rs146773666		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:210411339G>A	uc001hhy.3	+	1	213	c.34G>A	c.(34-36)Gag>Aag	p.E12K	SERTAD4_uc009xcw.3_Missense_Mutation_p.E12K	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	12							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TAGATTCTGCGAGCCCATTGT	0.483000														102			38		0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44189392	44189392	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44189392C>T	uc003tkl.2	-	5	1116	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	GCK_uc003tkj.1_Missense_Mutation_p.E215K|GCK_uc003tkk.1_Missense_Mutation_p.E217K	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	216					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TGATGGTCTTCGTAGTAGCAG	0.557000														81			40		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135705	55135705	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55135705G>A	uc010rif.2	+	0	346	c.346G>A	c.(346-348)Gag>Aag	p.E116K		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTTGCTCTCTGAGAAAAAGAC	0.403000														171			84		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751770	247751770	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247751770C>T	uc010pyy.2	+	0	109	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATATTGATTCTGTATTTACT	0.398000														149			61		0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377471	125377471	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125377471C>T	uc011lyy.2	+	0	455	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CATGCTCTCTCCCACCTTCAT	0.488000														96			35		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363270	22363270	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22363270C>T	uc002nqs.1	-	2	1567	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G417*(2)		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)				GGTTTCTCTCCAGTATGAATT	0.433000														117			40		0	0	1	0	0
CST4	1472	broad.mit.edu	37	20	23667831	23667831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:23667831C>T	uc002wto.1	-	1	292	c.236G>A	c.(235-237)gGg>gAg	p.G79E		NM_001899	NP_001890	P01036	CYTS_HUMAN	Homo sapiens cystatin S (CST4), mRNA.	79						extracellular region	cysteine-type endopeptidase inhibitor activity	p.F78V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					ATTCACCCCCCCAAAGGTCTG	0.552000														186			45		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53165672	53165672	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53165672C>T	uc001sax.3	-	5	1300	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	416	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGACATTTTCAATCTCAGCC	0.552000														173			15		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8656696	8656696	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8656696G>A	uc002mkj.1	-	14	2059	c.1785C>T	c.(1783-1785)tcC>tcT	p.S595S	ADAMTS10_uc002mki.1_Missense_Mutation_p.P86L|ADAMTS10_uc002mkk.1_Silent_p.S227S	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	595	TSP type-1 1.				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						CCGTGTTGCAGGAGCGGTGCC	0.612000														105			24		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39535000	39535000	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39535000G>A	uc003xni.3	+	14	1631	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.E502K	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	526	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTCTCTGCATGAAAGATCTGA	0.308000														56			16		0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81056306	81056306	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81056306C>T	uc001kaf.2	+	12	1881	c.1309C>T	c.(1309-1311)Ccg>Tcg	p.P437S	ZMIZ1_uc001kag.2_Missense_Mutation_p.P313S|ZMIZ1_uc001kah.1_3'UTR	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	437	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCCAACCCCCCGAGGCCACT	0.627000														118			66		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736879	140736879	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140736879C>T	uc003ljq.2	+	0	2112	c.2112C>T	c.(2110-2112)ttC>ttT	p.F704F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljs.2_5'Flank|PCDHGC5_uc003ljp.1_Silent_p.F704F|PCDHGC5_uc011dar.2_5'Flank	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	705					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)			CCTGCGTCTTCCTGGCTTTTG	0.612000														51			22		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25272862	25272862	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25272862G>A	uc010aaa.3	+	11	1930	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K	ATP12A_uc001upp.3_Missense_Mutation_p.E527K	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	527					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGGGGCCCCTGAGCGCATCCT	0.562000														75			34		0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432842	111432842	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:111432842C>T	uc003dya.3	+	2	1303	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F	PLCXD2_uc003dxz.3_Missense_Mutation_p.L245F	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	245					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CAAACTAATCCTCTTCTTGGA	0.567000														72			32		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481378	142481378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142481378G>A	uc011ksq.2	+	2	535	c.452G>A	c.(451-453)gGg>gAg	p.G151E	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Splice_Site					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CTGAGCTCTGGGGGTGAGTGG	0.547000														22			4		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95090041	95090041	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:95090041G>A	uc001ydp.3	+	4	1321	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	SERPINA3_uc001ydo.4_Missense_Mutation_p.E413K|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Missense_Mutation_p.E388K|SERPINA3_uc001yds.3_Missense_Mutation_p.E388K	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	388	RCL.				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TGCATTAGTGGAGACAAGGAC	0.493000														100			37		0	0	1	0	0
ABHD12	26090	broad.mit.edu	37	20	25287509	25287509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:25287509G>A	uc002wuq.3	-	9	1189	c.910C>T	c.(910-912)Cct>Tct	p.P304S	ABHD12_uc002wus.2_Missense_Mutation_p.P304S	NM_015600	NP_056415	Q8N2K0	ABD12_HUMAN	Homo sapiens abhydrolase domain containing 12 (ABHD12), transcript variant 2, mRNA.	304						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						CTTGTAATAGGATCAAGGAAG	0.378000														52			8		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536328	69536328	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69536328C>T	uc021xow.1	-	0	167	c.9G>A	c.(7-9)ctG>ctA	p.L3L		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	3					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ACGTCCATTTCAGAGACATCC	0.398000														342			88		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140358575	140358575	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140358575G>A	uc003lii.3	+	1	3212	c.2607G>A	c.(2605-2607)ctG>ctA	p.L869L	PCDHAC2_uc003lha.2_Silent_p.L548L|PCDHAC2_uc003lhb.2_Silent_p.L812L|PCDHAC2_uc003lhd.2_Silent_p.L810L|PCDHAC2_uc003lhf.2_Silent_p.L812L|PCDHAC2_uc003lhh.1_Silent_p.L809L|PCDHAC2_uc003lhi.2_Silent_p.L809L|PCDHAC2_uc003lhl.2_Silent_p.L798L|PCDHAC2_uc003lhk.1_Silent_p.L798L|PCDHAC2_uc003lho.2_Silent_p.L812L|PCDHAC2_uc003lhn.2_Silent_p.L548L|PCDHAC2_uc003lhq.2_Silent_p.L799L|PCDHAC2_uc003lhs.2_Silent_p.L812L|PCDHAC2_uc003lhu.2_Silent_p.L812L|PCDHAC2_uc003lhw.2_Silent_p.L547L|PCDHAC2_uc003lhx.2_Silent_p.L810L|PCDHAC2_uc003lia.2_Silent_p.L811L|PCDHAC2_uc003lic.2_Silent_p.L803L|PCDHAC2_uc003lif.2_Silent_p.L812L|PCDHAC2_uc003lie.1_Silent_p.L812L|PCDHAC2_uc003lih.2_Silent_p.L825L	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	869	4 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.L812L(6)|p.L810L(2)|p.L869L(2)|p.L809L(1)|p.L547L(1)|p.L825L(1)|p.L799L(1)|p.L811L(1)|p.L803L(1)|p.L798L(1)		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)			CTGCCTCCCTGAGAGCAGGCA	0.468000														73			15		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150881820	150881820	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:150881820C>T	uc003eyp.3	+	7	1377	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Silent_p.F416F|MED12L_uc003eyo.3_Silent_p.F416F	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	416					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACACGGCTTTCAATCAGCAGG	0.507000														75			33		0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116073723	116073723	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:116073723C>T	uc001lbn.3	-	6	1000	c.699G>A	c.(697-699)cgG>cgA	p.R233R	AFAP1L2_uc001lbo.3_Silent_p.R233R|AFAP1L2_uc010qse.2_Silent_p.R286R|AFAP1L2_uc001lbp.3_Silent_p.R261R|AFAP1L2_uc001lbr.1_Silent_p.R233R	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	233	PH 1.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GCTCCTTCTTCCGCACTTGCT	0.567000														60			13		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52023386	52023386	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52023386C>T	uc002pwy.3	-	7	1520	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	SIGLEC6_uc002pwz.3_Missense_Mutation_p.E422K|SIGLEC6_uc010ydb.2_Missense_Mutation_p.E386K|SIGLEC6_uc010ydc.2_3'UTR|SIGLEC6_uc002pxa.3_3'UTR|SIGLEC6_uc010eoz.2_3'UTR	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	438					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ACCTTTGGTTCCTGAGGTTGC	0.498000														146			59		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208515	140208515	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140208515C>T	uc003lho.2	+	0	866	c.839C>T	c.(838-840)tCt>tTt	p.S280F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.S280F|PCDHAC2_uc011dab.2_Missense_Mutation_p.S280F	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	295	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTCATATTCTTTTAATAGC	0.388000														144			69		0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242383365	242383365	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:242383365C>T	uc001hzn.2	-	5	887	c.660G>A	c.(658-660)caG>caA	p.Q220Q	PLD5_uc021pll.1_Silent_p.Q128Q|PLD5_uc001hzl.4_Silent_p.Q158Q|PLD5_uc001hzm.4_Silent_p.Q12Q|PLD5_uc001hzo.2_Silent_p.Q128Q	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	220	PLD phosphodiesterase 1.					integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AGAAGGAGGACTGCAGCCGGC	0.547000														55			16		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120464920	120464920	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:120464920G>A	uc001eik.3	-	27	5449	c.5152C>T	c.(5152-5154)Cgc>Tgc	p.R1718C		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1718					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCATCTCGGCGAAGAGTGAAA	0.483000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					67			17		0	0	1	0	0
C10orf27	219793	broad.mit.edu	37	10	72538358	72538358	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72538358G>A	uc010qjm.1	-	5	852	c.462C>T	c.(460-462)tcC>tcT	p.S154S	C10orf27_uc001jrj.1_Silent_p.S154S|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Silent_p.S153S|C10orf27_uc009xqi.1_Intron|C10orf27_uc010qjo.1_Silent_p.S142S|C10orf27_uc009xqj.1_3'UTR|C10orf27_uc010qjp.1_3'UTR	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	154					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						AGGCCACCCGGGAAGCTAGCT	0.587000														151			59		0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11154776	11154776	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:11154776C>T	uc021tcy.1	+	18	2243	c.2013C>T	c.(2011-2013)ttC>ttT	p.F671F	CLEC16A_uc002dan.4_Silent_p.F653F|CLEC16A_uc002dao.3_Silent_p.F669F	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	671								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGGTGTTCTTCATGCTGCGTT	0.542000														234			64		0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38395848	38395848	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:38395848C>T	uc022bgy.1	+	0	103	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	ALDH1B1_uc004aay.3_Missense_Mutation_p.P35S	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	35					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CCCAGACATCCCCTACAACCA	0.612000														55			21		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420498	55420498	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55420498C>T	uc001sgp.4	+	1	653	c.275C>T	c.(274-276)gCt>gTt	p.A92V	NEUROD4_uc021qyr.1_Missense_Mutation_p.A92V	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	92					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGAGTCAAGGCTAATGCCAGA	0.502000														76			22		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52216173	52216173	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:52216173C>T	uc003jou.3	+	16	2581	c.2167C>T	c.(2167-2169)Cgt>Tgt	p.R723C	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.R254C	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	723					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTTGCAGTACCGTGTCACCCT	0.299000														47			11		0	0	1	0	0
FAM126A	84668	broad.mit.edu	37	7	22999935	22999935	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:22999935G>A	uc003svm.4	-	9	1186	c.931C>T	c.(931-933)Cga>Tga	p.R311*	FAM126A_uc003svn.4_Nonsense_Mutation_p.R167*	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	Homo sapiens family with sequence similarity 126, member A (FAM126A), mRNA.	311						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CTTGATATTCGAGAGGAAGTT	0.388000														226			41		0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16980627	16980627	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16980627C>T	uc002ney.2	+	13	2282	c.2259C>T	c.(2257-2259)gcC>gcT	p.A753A	SIN3B_uc002nez.2_Silent_p.A721A|SIN3B_uc010xpi.1_Silent_p.A311A	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	753					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATGCCCCGGCCACTGAGCAGC	0.662000														41			19		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26434399	26434399	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:26434399C>T	uc001isn.2	+	21	2801	c.2441C>T	c.(2440-2442)tCa>tTa	p.S814L	MYO3A_uc009xko.1_Missense_Mutation_p.S814L|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	814	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AACCTGAAATCACAATACTTC	0.323000														49			11		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747606	143747606	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143747606C>T	uc011ktw.2	+	0	112	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CGTCTTCACCCTGCTGGGAAA	0.512000														100			53		0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	44005977	44005977	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44005977C>T	uc002own.4	-	3	702	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	PHLDB3_uc002owo.3_Missense_Mutation_p.R148Q	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 3 (PHLDB3), mRNA.	148										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				AGCGGCCACTCGCTCCCCAGC	0.706000														8			4		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23079830	23079830	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23079830G>A	uc002dll.3	-	15	3596	c.3596C>T	c.(3595-3597)tCc>tTc	p.S1199F	USP31_uc002dlk.3_Missense_Mutation_p.S471F|USP31_uc010vca.2_Missense_Mutation_p.S502F|USP31_uc010bxm.3_Missense_Mutation_p.S487F	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	1199	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGCCATGGAGGAGCTCCGCAC	0.642000														89			38		0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111215776	111215776	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111215776G>A	uc001dzv.1	-	0	1880	c.1656C>T	c.(1654-1656)tcC>tcT	p.S552S		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	552						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGTGGCAGTGGAATTGCCCG	0.463000														128			37		0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51143224	51143224	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:51143224C>T	uc003bne.1	+	15	1878	c.1878C>T	c.(1876-1878)ctC>ctT	p.L626L	SHANK3_uc003bnf.1_Silent_p.L81L	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	626										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TGCAGTATCTCGAGTCGGTGG	0.667000														22			5		0	0	1	0	0
GRAMD2	196996	broad.mit.edu	37	15	72462204	72462204	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72462204C>T	uc002atq.3	-	1	142	c.118G>A	c.(118-120)Gag>Aag	p.E40K	GRAMD2_uc010bis.2_Missense_Mutation_p.E40K	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	40						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TCCGGGGGCTCCTCAACTCTG	0.507000														91			91		0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69472590	69472591	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:69472590_69472591CC>TT	uc002sfg.3	+	17	2024_2025	c.1668_1669CC>TT	c.(1666-1671)tcccgc>tcTTgc	p.R557C		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	557	Pro-rich.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ctcctccctcccgccctcctcc	0.624000									Familial Infantile Hemangioma					43			7		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903304	6903304	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:6903304C>T	uc003bqm.2	+	0	503	c.229C>T	c.(229-231)Cac>Tac	p.H77Y	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.H77Y|GRM7_uc003bql.2_Missense_Mutation_p.H77Y	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	77					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AAACGGGATCCACAGGCTGGA	0.647000														25			5		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089439	86089439	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:86089439C>T	uc021rxf.1	+	0	1581	c.1581C>T	c.(1579-1581)tcC>tcT	p.S527S	FLRT2_uc001xvr.3_Silent_p.S527S|FLRT2_uc010atd.3_Silent_p.S527S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	527					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACACAGCGTCCAGCCATGAGC	0.587000														129			50		0	0	1	0	0
MSI1	4440	broad.mit.edu	37	12	120785268	120785268	+	Silent	SNP	C	T	T	rs141481855	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:120785268C>T	uc001tye.1	-	11	904	c.840G>A	c.(838-840)gcG>gcA	p.A280A		NM_002442	NP_002433	O43347	MSI1H_HUMAN	Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.	280	Poly-Ala.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAACCACAGCCGCTGCCGCCG	0.627000														173			35		0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40193564	40193564	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:40193564C>T	uc002yxf.3	+	9	1590	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	ETS2_uc002yxg.3_Missense_Mutation_p.S377F	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	377					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TCAGACAAATCCTGCCAGTCA	0.547000														110			62		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67016572	67016572	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:67016572G>A	uc002jhu.3	-	18	2700	c.2557C>T	c.(2557-2559)Cgc>Tgc	p.R853C	ABCA9_uc010dez.3_Missense_Mutation_p.R853C	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	853					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTTAGGAAGCGAACTTTTGCT	0.398000														116			49		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21882208	21882208	+	Missense_Mutation	SNP	C	T	T	rs72657399		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:21882208C>T	uc003svc.3	+	66	10790	c.10759C>T	c.(10759-10761)Cgc>Tgc	p.R3587C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3587	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAAGAACTTTCGCCTTATCCT	0.393000									Kartagener syndrome					36			12		0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53639522	53639522	+	Missense_Mutation	SNP	G	A	A	rs151332923	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:53639522G>A	uc002ehp.3	-	25	3770	c.3706C>T	c.(3706-3708)Cgc>Tgc	p.R1236C	RPGRIP1L_uc002eho.4_Missense_Mutation_p.R1156C|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.R1190C|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.R1202C|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R1190C	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	1236					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.R1236H(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ACGGTGAAGCGAAGGCTGGTA	0.517000														65			5		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73464832	73464833	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73464832_73464833GG>AA	uc001jrx.4	+	23	3282_3283	c.2892_2893GG>AA	c.(2890-2895)gtggcc>gtAAcc	p.A965T	CDH23_uc001jry.3_Missense_Mutation_p.A965T|CDH23_uc001jrz.3_Missense_Mutation_p.A965T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	967	Cadherin 9.				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						TGCGGGTGGTGGCCAGTGATGC	0.663000														40			27		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57254689	57254689	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57254689G>A	uc001cym.4	-	2	1282	c.876C>T	c.(874-876)gcC>gcT	p.A292A	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Silent_p.A292A	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	292										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GCCTCTGAAAGGCCTGGAGGT	0.587000														115			7		0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75329450	75329450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75329450G>A	uc021rwo.1	-	0	1088	c.1088C>T	c.(1087-1089)cCt>cTt	p.P363L	PROX2_uc001xqp.2_Missense_Mutation_p.P363L|PROX2_uc001xqq.2_Intron	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	363					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GTCCTGGGGAGGACTGCTACT	0.537000														31			15		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11009471	11009471	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:11009471G>A	uc002daj.4	+	13	3069	c.2936G>A	c.(2935-2937)cGg>cAg	p.R979Q	CIITA_uc002dai.4_Missense_Mutation_p.R978Q|CIITA_uc002dak.4_Missense_Mutation_p.R394Q	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	978			Missing (in BLS2).		interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AAACTGGTGCGGATCCTCACG	0.572000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									62			12		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46898811	46898811	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:46898811C>T	uc001ndn.4	-	22	3459	c.3216G>A	c.(3214-3216)gtG>gtA	p.V1072V		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1072					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TTGGTACCACCACATCAGCAA	0.527000														69			20		0	0	1	0	0
CHDH	55349	broad.mit.edu	37	3	53854576	53854576	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:53854576G>A	uc003dgz.3	-	5	1486	c.1045C>T	c.(1045-1047)Cct>Tct	p.P349S		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA.	349					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	AGGGTGATAGGGCGGGTGCAT	0.552000														90			41		0	0	1	0	0
ABCC6P2	730013	broad.mit.edu	37	16	14916757	14916757	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:14916757A>G	uc002dcu.2	-	1	238	c.205T>C	c.(205-207)Ttc>Ctc	p.F69L						Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 2 (ABCC6P2), non-coding RNA.																		TTGGCTTTGAAGAGTGGGGAC	0.602000														19			6		0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4553315	4553315	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4553315C>T	uc001qmr.1	-	1	478	c.434G>A	c.(433-435)gGa>gAa	p.G145E		NM_020996	NP_066276	P10767	FGF6_HUMAN	Homo sapiens fibroblast growth factor 6 (FGF6), mRNA.	145					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			GTACAATCTTCCTTTACTGTT	0.488000														38			17		0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82444475	82444475	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:82444475G>A	uc002bgt.1	-	17	2489	c.2320C>T	c.(2320-2322)Cgt>Tgt	p.R774C	EFTUD1_uc002bgu.1_Missense_Mutation_p.R723C	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	774					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TCCATAGAACGAATCAAATCA	0.418000														91			25		0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19120895	19120895	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19120895G>A	uc002nkz.1	-	4	2169	c.2149C>T	c.(2149-2151)Ctc>Ttc	p.L717F	SUGP2_uc002nkx.2_Missense_Mutation_p.L703F|SUGP2_uc002nla.1_Missense_Mutation_p.L703F|SUGP2_uc002nlb.2_Missense_Mutation_p.L703F|SUGP2_uc010xqk.1_Missense_Mutation_p.L472F	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	703					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GAGGATAGGAGGGTCTGGGTC	0.642000														104			33		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70953127	70953128	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70953127_70953128CC>TT	uc001swb.4	-	15	4085_4086	c.4055_4056GG>AA	c.(4054-4056)agg>aAA	p.R1352K	PTPRB_uc010sto.2_Missense_Mutation_p.R1262K|PTPRB_uc010stp.2_Missense_Mutation_p.R1262K|PTPRB_uc001swc.4_Missense_Mutation_p.R1570K|PTPRB_uc001swa.4_Missense_Mutation_p.R1482K|PTPRB_uc001swd.4_Missense_Mutation_p.R1569K|PTPRB_uc009zrr.2_Missense_Mutation_p.R1449K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1352	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCATACTTGTCCTCACAGATCC	0.381000														123			62		0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40503539	40503539	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:40503539G>A	uc002lav.3	-	3	597	c.424C>T	c.(424-426)Cag>Tag	p.Q142*	RIT2_uc010dnf.3_Nonsense_Mutation_p.Q142*	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	142					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCACTCACCTGGCGGAACTGT	0.458000														206			42		0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114636424	114636424	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:114636424C>T	uc021osa.1	-	7	1594	c.1516_splice	c.e7-1	p.G506_splice	SYT6_uc021orz.1_Splice_Site_p.G421_splice|SYT6_uc001eev.3_Splice_Site_p.G421_splice|SYT6_uc001eeu.3_Intron	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	506	Necessary for cell membrane association (isoform 2) (By similarity).				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGAGGGTTTCCCTGGTGAAA	0.458000														67			6		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34078170	34078170	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34078170G>A	uc001zhi.3	+	65	9646	c.9576G>A	c.(9574-9576)atG>atA	p.M3192I	RYR3_uc010bar.3_Missense_Mutation_p.M3192I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3192					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTCCTGGATGAAGCGCATTG	0.498000														160			60		0	0	1	0	0
GIPC1	10755	broad.mit.edu	37	19	14593559	14593559	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:14593559G>A	uc002myt.3	-	3	500	c.230C>T	c.(229-231)aCc>aTc	p.T77I	GIPC1_uc002myv.3_Intron|GIPC1_uc002myu.3_Missense_Mutation_p.T77I|GIPC1_uc002myw.3_Intron|GIPC1_uc002myx.3_Missense_Mutation_p.T77I|GIPC1_uc002myy.3_Intron	NM_005716	NP_974223	O14908	GIPC1_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.	77					G-protein coupled receptor protein signaling pathway|endothelial cell migration|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CTTGACGTTGGTGAAGCCCTC	0.677000														25			9		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7776939	7776939	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:7776939G>A	uc001ijs.3	+	14	2004	c.1842G>A	c.(1840-1842)caG>caA	p.Q614Q		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	614					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.Q614R(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGATCCTGCAGATGTCTCTAG	0.552000														94			34		0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143986231	143986231	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:143986231C>T	uc002tvm.4	+	4	529	c.378C>T	c.(376-378)tcC>tcT	p.S126S	ARHGAP15_uc010zbl.1_Silent_p.S126S	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	126	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	Rac GTPase activator activity|protein binding			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AGGCTCTGTCCAATATGGTAA	0.303000														58			34		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43778170	43778170	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:43778170G>A	uc001ciu.3	+	11	2002	c.1825G>A	c.(1825-1827)Gga>Aga	p.G609R	TIE1_uc010okd.2_Missense_Mutation_p.G609R|TIE1_uc010oke.2_Missense_Mutation_p.G564R|TIE1_uc009vwq.3_Missense_Mutation_p.G565R|TIE1_uc010okf.1_Missense_Mutation_p.G254R|TIE1_uc010okg.2_Missense_Mutation_p.G254R	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	609	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTCCTGACGGGACTCACGCC	0.711000														44			13		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126004086	126004086	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:126004086C>T	uc001uhe.1	+	3	1201	c.1193C>T	c.(1192-1194)cCg>cTg	p.P398L	TMEM132B_uc021rgl.1_Missense_Mutation_p.P288L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	398						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)		GTGGAGTACCCGATTGAGGAC	0.532000														80			21		0	0	1	0	0
OPALIN	93377	broad.mit.edu	37	10	98105809	98105809	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98105809C>T	uc001kmj.3	-	5	754	c.315G>A	c.(313-315)gtG>gtA	p.V105V	OPALIN_uc010qor.2_Silent_p.V95V|OPALIN_uc001kmi.3_Silent_p.V95V|OPALIN_uc001kmk.3_Silent_p.V82V|OPALIN_uc010qos.2_Non-coding_Transcript	NM_033207	NP_149984	Q96PE5	OPALI_HUMAN	Homo sapiens oligodendrocytic myelin paranodal and inner loop protein (OPALIN), transcript variant 1, mRNA.	105						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CTACAGTCTTCACATATATGT	0.453000														150			56		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148055131	148055131	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:148055131T>A	uc004fcp.3	+	15	3877	c.3398T>A	c.(3397-3399)cTc>cAc	p.L1133H	AFF2_uc004fcq.3_Missense_Mutation_p.L1123H|AFF2_uc004fcr.3_Missense_Mutation_p.L1094H|AFF2_uc011mxb.2_Missense_Mutation_p.L1098H|AFF2_uc004fcs.3_Missense_Mutation_p.L1098H|AFF2_uc011mxc.2_Missense_Mutation_p.L774H	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1133					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGTGGAGCTCCTCAGGTGA	0.438000														20			16		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	148105	148105	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000192.1:148105C>T	uc010yih.1	-	12		c.2580G>A						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											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)				TCTTTTCTTTCATTTTCTGTT	0.438000														82			39		0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541451	40541451	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40541451G>A	uc002omu.3	-	4	1380	c.1315C>T	c.(1315-1317)Cat>Tat	p.H439Y	ZNF780B_uc002omv.3_Missense_Mutation_p.H291Y	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCATTGGAATGAATTTTTTGA	0.378000														210			42		0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4649113	4649113	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:4649113G>A	uc002fyu.2	+	13	2112	c.2082_splice	c.e13-1	p.W694_splice	ZMYND15_uc002fyv.2_Splice_Site_p.W686_splice|ZMYND15_uc002fyt.2_Splice_Site_p.W647_splice	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	647							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CGCCCCCGCAGGTACTGCAAT	0.741000														11			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140230326	140230326	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140230326C>T	uc003lhu.2	+	0	2970	c.2246C>T	c.(2245-2247)tCg>tTg	p.S749L	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_uc003lht.1_Missense_Mutation_p.S749L	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	786					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)			GGGAGTTGGTCGTACTCGCAG	0.647000														36			43		0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55048253	55048253	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55048253G>A	uc010erm.2	+	0	133	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	KIR3DX1_uc010yfa.1_Non-coding_Transcript|KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GAGACACAGGGAAGCATTCCA	0.547000														100			44		0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185766484	185766484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:185766484G>A	uc003fpy.3	-	12	1668	c.1603C>T	c.(1603-1605)Ctc>Ttc	p.L535F	ETV5_uc003fpz.3_Missense_Mutation_p.L493F	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	493					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATGTCCAGGAGGTAAGCGGGG	0.602000			T	"""TMPRSS2, SCL45A3"""	Prostate									48			22		0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119892174	119892174	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:119892174C>T	uc011bjf.2	-	7	1457	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E	GPR156_uc011bjg.2_Silent_p.E355E	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	359						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TGAGGAGCCTCTCCATGGAGC	0.527000														54			21		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507520	74507520	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:74507520C>T	uc001dfy.4	-	6	1287	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	365										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTGCATTATTCTTCAATGAAC	0.338000														72			22		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82763915	82763915	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82763915C>T	uc003uhx.2	-	2	3240	c.2951G>A	c.(2950-2952)gGt>gAt	p.G984D	PCLO_uc003uhv.2_Missense_Mutation_p.G984D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	930					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						TGGTGCTTGACCTGTGGATTT	0.512000														33			21		0	0	1	0	0
H2BFWT	158983	broad.mit.edu	37	X	103267933	103267933	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:103267933C>T	uc004elr.3	-	0	324	c.300G>A	c.(298-300)cgG>cgA	p.R100R		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA.	100					nucleosome assembly	nuclear membrane|nucleosome	DNA binding	p.R100R(2)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						TCACGGCCTCCCGGGAAAGGC	0.637000														18			13		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196749452	196749452	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196749452G>A	uc002utj.4	-	34	5721	c.5620C>T	c.(5620-5622)Cga>Tga	p.R1874*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1874					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTAGTTCTCGAAGAATCTTA	0.383000														51			28		0	0	1	0	0
CTSC	1075	broad.mit.edu	37	11	88027630	88027630	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:88027630T>C	uc001pck.4	-	6	1037	c.936A>G	c.(934-936)caA>caG	p.Q312Q	CTSC_uc001pcl.4_Silent_p.Q164Q	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	312			Q -> R (in PLS).		immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCCAAAATCTTGGGCGTACT	0.458000														60			22		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102056928	102056928	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:102056928G>A	uc001kqx.1	-	5	1377	c.994C>T	c.(994-996)Cca>Tca	p.P332S	PKD2L1_uc009xwm.1_Missense_Mutation_p.P285S	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	332					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	p.P332P(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGCCAGGATGGGATGGCACCT	0.562000														76			23		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11725334	11725334	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11725334G>A	uc002gne.3	+	45	8873	c.8805G>A	c.(8803-8805)gaG>gaA	p.E2935E	DNAH9_uc010coo.3_Silent_p.E2229E	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2935	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACAACAGAGAGAACTGTTGGA	0.478000														25			18		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39112006	39112006	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39112006G>A	uc003xmt.4	+	17	2221	c.1976G>A	c.(1975-1977)gGa>gAa	p.G659E	ADAM32_uc011lch.2_Missense_Mutation_p.G560E|ADAM32_uc003xmu.4_Missense_Mutation_p.G553E|ADAM32_uc003xmv.3_Missense_Mutation_p.G83E	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	659					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G658V(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CGTTCCAAAGGATTTTCCATA	0.343000														9			7		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87772351	87772351	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87772351C>T	uc003ujn.3	+	14	1446	c.1231C>T	c.(1231-1233)Cct>Tct	p.P411S	ADAM22_uc003ujk.2_Missense_Mutation_p.P411S|ADAM22_uc003ujl.2_Missense_Mutation_p.P411S|ADAM22_uc003ujm.3_Missense_Mutation_p.P411S|ADAM22_uc003ujo.3_Missense_Mutation_p.P411S|ADAM22_uc003ujp.1_Missense_Mutation_p.P463S	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	411	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CTATTATCTTCCTAAAAAGTT	0.343000														105			38		0	0	1	0	0
OR8G1	26494	broad.mit.edu	37	11	124121217	124121217	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124121217C>T	uc001pzx.3	+	1	792	c.792C>T	c.(790-792)atC>atT	p.I264I		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		CATCTTCAATCAGCTCCATGG	0.423000														70			28		0	0	1	0	0
CHDH	55349	broad.mit.edu	37	3	53857356	53857356	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:53857356C>T	uc003dgz.3	-	2	1121	c.680G>A	c.(679-681)tGg>tAg	p.W227*		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA.	227					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CATGTCCATCCAGCCGAAGCC	0.607000														6			7		0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28282549	28282549	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:28282549G>A	uc001bpg.3	+	6	1152	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	SMPDL3B_uc001bpf.3_Missense_Mutation_p.A321T|SMPDL3B_uc010ofq.2_Missense_Mutation_p.A115T|SMPDL3B_uc010ofr.2_Missense_Mutation_p.A273T	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	321					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		CAACAATCCAGCCATCCGGGT	0.567000														55			14		0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23692817	23692817	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:23692817C>T	uc003zpu.3	-	6	1093	c.818G>A	c.(817-819)gGa>gAa	p.G273E	ELAVL2_uc003zps.3_Missense_Mutation_p.G260E|ELAVL2_uc003zpt.3_Missense_Mutation_p.G260E|ELAVL2_uc003zpv.3_Missense_Mutation_p.G273E|ELAVL2_uc003zpw.3_Missense_Mutation_p.G260E	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	273					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.G273R(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CCACCCTGTTCCAGGGTGCCC	0.463000														74			6		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135203728	135203728	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135203728G>A	uc004cbk.3	-	9	3440	c.3257C>T	c.(3256-3258)tCa>tTa	p.S1086L	SETX_uc004cbj.3_Missense_Mutation_p.S705L|SETX_uc010mzt.3_Missense_Mutation_p.S705L	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1086					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CACTTCAGATGAACTTTCAAA	0.348000														103			14		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141473643	141473643	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141473643G>A	uc002tvj.1	-	36	6894	c.5922C>T	c.(5920-5922)ttC>ttT	p.F1974F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1974					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAATTAAGTTGAAACCATGAT	0.333000										TSP Lung(27;0.18)				116			36		0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070414	114070414	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:114070414G>A	uc003ebi.3	-	3	691	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L	ZBTB20_uc003ebj.3_Silent_p.L98L|ZBTB20_uc010hqp.3_Silent_p.L98L|ZBTB20_uc003ebk.3_Silent_p.L98L|ZBTB20_uc003ebl.3_Silent_p.L98L|ZBTB20_uc003ebm.3_Silent_p.L98L|ZBTB20_uc003ebn.3_Silent_p.L98L|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGGATCTGCAGAGCTTCCGAC	0.582000														42			29		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471630	61471630	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61471630G>A	uc002ljl.3	+	7	1000	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	SERPINB7_uc002ljm.3_Missense_Mutation_p.E302K|SERPINB7_uc010xet.2_Missense_Mutation_p.E285K|SERPINB7_uc010dqg.3_Missense_Mutation_p.E302K	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	302					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TATCTTTGATGAATCCAAAGC	0.408000														55			26		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145006619	145006619	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145006619G>A	uc003zaf.1	-	15	2507	c.2337C>T	c.(2335-2337)ttC>ttT	p.F779F	PLEC_uc003zab.1_Silent_p.F642F|PLEC_uc003zac.1_Silent_p.F646F|PLEC_uc003zad.2_Silent_p.F642F|PLEC_uc003zae.1_Silent_p.F610F|PLEC_uc003zag.1_Silent_p.F620F|PLEC_uc003zah.2_Silent_p.F628F|PLEC_uc003zaj.2_Silent_p.F669F	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	779	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCCAGTCGAAGCCCACCT	0.632000														64			24		0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44611651	44611651	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44611651C>T	uc002oyh.2	+	5	1655	c.1338C>T	c.(1336-1338)caC>caT	p.H446H	LOC100379224_uc002oyi.3_Non-coding_Transcript	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	446					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TTGACTTTCACCAGCGCGTCC	0.463000														101			15		0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117188502	117188502	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117188502C>T	uc004biy.4	-	3	646	c.6G>A	c.(4-6)gcG>gcA	p.A2A	DFNB31_uc004bix.3_5'Flank|DFNB31_uc004biz.4_Silent_p.A385A|DFNB31_uc004bja.4_Silent_p.A385A	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	385					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGCCGAGTTCGCCATGGTCT	0.632000														22			15		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63548115	63548115	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:63548115G>A	uc002lkb.3	+	11	2769	c.2343G>A	c.(2341-2343)gaG>gaA	p.E781E	CDH7_uc002ljz.3_Silent_p.E781E	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	781					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E781Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CTGGCCAAGAGAGTTTGTACT	0.373000														85			16		0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747052	10747052	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10747052C>T	uc002mpf.3	+	14	1426	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	SLC44A2_uc002mpe.4_Silent_p.F427F|SLC44A2_uc002mpg.1_Silent_p.F149F|SLC44A2_uc002mph.3_5'UTR	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	429					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GTTGCCAGTTCGCCTTCTACG	0.602000														67			33		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72040764	72040764	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72040764C>T	uc002atb.1	+	12	2325	c.2246C>T	c.(2245-2247)tCg>tTg	p.S749L	THSD4_uc002ate.2_Missense_Mutation_p.S389L	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	749	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTTCAGTGCTCGGTGCCCTGC	0.577000														66			13		0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49490508	49490508	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49490508G>A	uc002plp.3	-	2	676	c.435C>T	c.(433-435)gaC>gaT	p.D145D	GYS1_uc010emm.3_Intron|GYS1_uc010xzz.2_Silent_p.D65D|GYS1_uc010yaa.1_Non-coding_Transcript	NM_002103	NP_002094	P13807	GYS1_HUMAN	Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.	145					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGGCCTCGCGGTCGTACCACG	0.607000														28			14		0	0	1	0	0
C2orf43	60526	broad.mit.edu	37	2	20939734	20939734	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:20939734G>A	uc002rec.3	-	4	733	c.700C>T	c.(700-702)Ctt>Ttt	p.L234F	C2orf43_uc010ykb.1_Missense_Mutation_p.L104F|C2orf43_uc010ykc.1_Missense_Mutation_p.L186F|C2orf43_uc010ykd.1_Intron|C2orf43_uc010ykf.1_Missense_Mutation_p.L104F|C2orf43_uc021vem.1_Intron|C2orf43_uc010yke.1_Missense_Mutation_p.L192F|C2orf43_uc010yka.1_Intron	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN	Homo sapiens chromosome 2 open reading frame 43 (C2orf43), mRNA.	234										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTTACCAAGGCAGAATGGT	0.348000														78			16		0	0	1	0	0
MRPS31	10240	broad.mit.edu	37	13	41345346	41345346	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:41345346C>T	uc001uxm.4	-	1	1	c.-74_splice	c.e1-1			NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CCCGCCCTCTCTTCCGCTTCC	0.637000														20			12		0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114090282	114090282	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:114090282C>T	uc011lwp.2	-	0	432	c.432G>A	c.(430-432)atG>atA	p.M144I		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R143R(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AGACCGTAGCCATCCGTGCAC	0.547000														70			29		0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44114596	44114596	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:44114596C>T	uc003owr.3	+	10	859	c.795C>T	c.(793-795)ccC>ccT	p.P265P	TMEM63B_uc003owq.1_Silent_p.P265P|TMEM63B_uc003ows.3_Silent_p.P168P|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	265						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AAGCCTACCCCAACTGCACAG	0.562000														70			33		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537629	55537629	+	Missense_Mutation	SNP	G	A	A	rs141279458	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55537629G>A	uc003xsd.1	+	3	1335	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	396					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTATGGAGCGAAGCAGTAAT	0.433000														45			15		0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151451837	151451837	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151451837C>T	uc003ezc.3	+	0	134	c.14C>T	c.(13-15)gCt>gTt	p.A5V	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	5						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGGCTAAAAGCTCTCTGTTTG	0.388000														18			11		0	0	1	0	0
FERD3L	222894	broad.mit.edu	37	7	19184938	19184938	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:19184938G>A	uc003suo.1	-	0	107	c.48C>T	c.(46-48)ttC>ttT	p.F16F	BC043576_uc003sun.1_Non-coding_Transcript	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA.	16					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.D15H(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GGTCTGCGACGAAGTCCAGCA	0.672000														47			17		0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68478463	68478463	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:68478463C>T	uc001ooc.3	-	8	1353	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	405	CXC 2.				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TCTGGGCTTTCTTCATAATTT	0.393000														51			20		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784186	82784186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82784186G>A	uc003uhx.2	-	1	2060	c.1771C>T	c.(1771-1773)Ctt>Ttt	p.L591F	PCLO_uc003uhv.2_Missense_Mutation_p.L591F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	537	Pro-rich.				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						GTATTGCAAAGAGGACAGATG	0.453000														296			104		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234527192	234527192	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234527192G>A	uc002vup.3	+	0	902	c.839G>A	c.(838-840)gGa>gAa	p.G280E	UGT1A1_uc010zmv.1_Missense_Mutation_p.G280E	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	283					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGCCATCAGGGAAAGCCATTG	0.398000														312			107		0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032457	30032457	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:30032457G>A	uc021qfi.1	-	0	1769	c.1769C>T	c.(1768-1770)cCc>cTc	p.P590L	KCNA4_uc001msk.3_Missense_Mutation_p.P590L	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	590						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.L589L(1)|p.L589F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CAAATTAGAGGGGAGGTATGG	0.433000														46			18		0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738921	138738921	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:138738921G>A	uc003esy.1	-	0	848	c.583C>T	c.(583-585)Cca>Tca	p.P195S		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	195	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGGGTTCTGGGATGGGGCCC	0.632000														49			16		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81702197	81702197	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81702197C>T	uc001kbh.3	-	3	423	c.380G>A	c.(379-381)gGg>gAg	p.G127E		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	127	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TCCTATGTTCCCCTGCTTCCC	0.592000														41			17		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24448111	24448111	+	Missense_Mutation	SNP	C	T	T	rs146993893	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:24448111C>T	uc003ned.1	-	16	1783	c.1672G>A	c.(1672-1674)Gac>Aac	p.D558N	GPLD1_uc010jpr.1_Missense_Mutation_p.D395N|GPLD1_uc010jps.1_Missense_Mutation_p.D558N	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	558						extracellular region	glycosylphosphatidylinositol phospholipase D activity	p.D558N(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTACCTTTGTCGCTCAGGCTG	0.522000														31			16		0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218940147	218940147	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:218940147G>A	uc010fvl.2	+	8	1450	c.932G>A	c.(931-933)gGg>gAg	p.G311E	RUFY4_uc002vgw.3_Missense_Mutation_p.G138E	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	311							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAGGTGATAGGGATGGAGGCT	0.572000														19			6		0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151705022	151705022	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:151705022C>T	uc003wkp.3	+	6	1289	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	GALNTL5_uc010lqf.3_Missense_Mutation_p.S229L|GALNTL5_uc003wkq.3_Missense_Mutation_p.S91L|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	340	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TTGGAACTTTCACTAAGGGTA	0.328000														94			33		0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3643301	3643301	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3643301G>A	uc002lyj.2	-	12	1678	c.1589C>T	c.(1588-1590)tCc>tTc	p.S530F	PIP5K1C_uc010xhq.2_Missense_Mutation_p.S530F|PIP5K1C_uc010xhr.2_Missense_Mutation_p.S530F	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	530					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGGGATGTGGATGACAGAGT	0.662000														101			42		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173503725	173503725	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:173503725C>T	uc001giz.2	-	15	2295	c.1872G>A	c.(1870-1872)atG>atA	p.M624I	SLC9C2_uc009wwe.2_Missense_Mutation_p.M182I|SLC9C2_uc010pmq.1_Intron	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	624					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GATGTATTATCATAGGATAAA	0.259000														79			8		0	0	1	0	0
ACAP3	116983	broad.mit.edu	37	1	1229502	1229502	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1229502G>A	uc001aeb.2	-	21	2291	c.2217C>T	c.(2215-2217)ccC>ccT	p.P739P	ACAP3_uc001ady.2_Silent_p.P469P|ACAP3_uc001aea.2_Silent_p.P664P	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	739					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CGTGGTGCAGGGGCGCCCGGC	0.711000														5			3		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51170907	51170907	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51170907G>A	uc002psx.1	-	21	4329	c.4310C>T	c.(4309-4311)cCg>cTg	p.P1437L	SHANK1_uc002psw.1_Missense_Mutation_p.P821L	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	1437					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGCGGCGGGCGGGCTGGCGGG	0.796000														2			4		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897943	175897943	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:175897943C>T	uc003iuc.3	+	4	1937	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S	ADAM29_uc003iud.3_Missense_Mutation_p.P423S|ADAM29_uc010irr.3_Missense_Mutation_p.P423S|ADAM29_uc011cki.2_Missense_Mutation_p.P423S|ADAM29_uc021xuo.1_Missense_Mutation_p.P423S	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	423	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGCAAAAGATCCCTGCTGTCT	0.443000														91			33		0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42458807	42458807	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42458807G>A	uc001zpd.3	-	15	1744	c.1593C>T	c.(1591-1593)tcC>tcT	p.S531S	VPS39_uc001zpc.3_Silent_p.S520S|VPS39_uc001zpb.3_5'Flank	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	531					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CTTTCAGAGGGGAGTTGGCTT	0.547000														51			21		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363937	22363937	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22363937C>T	uc002nqs.1	-	2	900	c.582G>A	c.(580-582)gaG>gaA	p.E194E		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	194					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)				TGTAGGGTTTCTCTCCAGTAT	0.348000														110			10		0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158750330	158750330	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:158750330G>A	uc003lxr.1	-	2	138	c.96C>T	c.(94-96)gtC>gtT	p.V32V		NM_002187	NP_002178	P29460	IL12B_HUMAN	Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.	32	Ig-like C2-type.				T-helper 1 type immune response|T-helper cell differentiation|cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAATTCTACGACATAAACTG	0.498000														37			15		0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44676255	44676255	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44676255C>T	uc002oys.3	+	3	210	c.30C>T	c.(28-30)ttC>ttT	p.F10F	ZNF226_uc010ejg.3_Silent_p.F10F|ZNF226_uc002oyn.3_Silent_p.F10F|ZNF226_uc002oyo.3_Silent_p.F10F|ZNF226_uc002oyp.3_Silent_p.F10F|ZNF226_uc002oyq.3_5'UTR|ZNF226_uc002oyr.3_5'UTR|ZNF226_uc002oyt.3_Silent_p.F10F	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	10	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CAGTGACCTTCAAGGACGTGG	0.507000														141			42		0	0	1	0	0
DGUOK	1716	broad.mit.edu	37	2	74185845	74185845	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74185845C>T	uc002sjx.3	+	6	901	c.816C>T	c.(814-816)acC>acT	p.T272T	DGUOK_uc002sjy.3_Silent_p.T184T|DGUOK_uc002sjz.3_Non-coding_Transcript	NM_080916	NP_550438	Q16854	DGUOK_HUMAN	Homo sapiens deoxyguanosine kinase (DGUOK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	272					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						AGGTAAACACCTTTGTAAAGA	0.413000														68			18		0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72367986	72367986	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72367986C>T	uc021ucp.1	+	3	636	c.627C>T	c.(625-627)ttC>ttT	p.F209F	GPR142_uc010wqy.2_Silent_p.F212F	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	212						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						TCATCGTGTTCGCGGGCTTCC	0.652000														20			14		0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945447	4945447	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4945447G>A	uc010qyr.2	-	0	123	c.123C>T	c.(121-123)atC>atT	p.I41I		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTTCCCCAAGATAACTGTCA	0.502000														63			18		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38950158	38950158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38950158C>T	uc021yzh.1	+	85	12980	c.12871C>T	c.(12871-12873)Ccc>Tcc	p.P4291S	DNAH8_uc003ooe.2_Missense_Mutation_p.P4074S|DNAH8_uc003oog.1_Missense_Mutation_p.P523S	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGGAATATTCCCTACGAATT	0.353000														207			15		0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54142212	54142212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:54142212C>T	uc003xrh.1	-	2	1163	c.788G>A	c.(787-789)cGa>cAa	p.R263Q	OPRK1_uc022aup.1_Missense_Mutation_p.R143Q|OPRK1_uc003xri.1_Missense_Mutation_p.R263Q|OPRK1_uc010lyc.1_Missense_Mutation_p.R174Q	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	263					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ATCTTTCTCTCGGGAGCCAGA	0.547000														51			25		0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106066431	106066431	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106066431C>T	uc001yrw.1	-	4	1313	c.1301G>A	c.(1300-1302)cGa>cAa	p.R434Q	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.R381Q|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_Non-coding_Transcript					RecName: Full=Ig epsilon chain C region;																		AGACACCGCTCGCTGGACGGT	0.607000														128			43		0	0	1	0	0
BHLHE22	27319	broad.mit.edu	37	8	65494180	65494180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:65494180G>A	uc003xvi.3	+	0	1386	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	LOC401463_uc003xvh.3_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.	278	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CCCTCGGTGCGAAAGCTCTCC	0.647000														17			8		0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64535070	64535070	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64535070G>A	uc001obb.2	-	9	1767	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	SF1_uc010rnm.2_Missense_Mutation_p.P131S|SF1_uc010rnn.2_Missense_Mutation_p.P413S|SF1_uc001oaz.2_Missense_Mutation_p.P564S|SF1_uc001oba.2_Missense_Mutation_p.P439S|SF1_uc001obd.2_Missense_Mutation_p.P439S|SF1_uc001obc.2_Missense_Mutation_p.P439S|SF1_uc001obe.2_Missense_Mutation_p.P324S|SF1_uc010rno.2_Missense_Mutation_p.P324S|SF1_uc021qky.1_5'Flank	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	439	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGGTGCCCAGGAGGGTGGGGG	0.607000											OREG0021062	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		100			41		0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114282476	114282476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:114282476G>A	uc009zwi.2	-	22	2926	c.2782C>T	c.(2782-2784)Cac>Tac	p.H928Y	RBM19_uc001tvn.4_Missense_Mutation_p.H928Y|RBM19_uc001tvm.3_Missense_Mutation_p.H928Y	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	928					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTCCTACCGTGAAAGTGAGCG	0.657000														11			4		0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55419298	55419298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55419298G>A	uc001nhs.1	+	0	919	c.919G>A	c.(919-921)Gag>Aag	p.E307K		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	307					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)				TGTTTTCTTGGAGGCTAAAGG	0.363000														163			58		0	0	1	0	0
PPA2	27068	broad.mit.edu	37	4	106367581	106367581	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:106367581G>A	uc003hxl.3	-	4	420	c.400C>T	c.(400-402)Cct>Tct	p.P134S	PPA2_uc003hxn.3_Missense_Mutation_p.P134S|PPA2_uc003hxo.3_Intron|PPA2_uc003hxp.3_Intron|PPA2_uc003hxq.3_Missense_Mutation_p.P41S|PPA2_uc011cfa.1_Missense_Mutation_p.P41S	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	Homo sapiens pyrophosphatase (inorganic) 2 (PPA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	134					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		CCCTTGTAAGGGAAGATATTC	0.373000														144			12		0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122437790	122437790	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122437790C>T	uc003efq.4	+	13	4851	c.4792C>T	c.(4792-4794)Ctc>Ttc	p.L1598F	PARP14_uc021xdc.1_Missense_Mutation_p.L1462F|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.L1315F|PARP14_uc003efs.1_Missense_Mutation_p.L1315F	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1598	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGTTCAGCGCCTCACGAAATC	0.388000														24			5		0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374541	8374541	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8374541G>A	uc001qui.2	-	6	1831	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L	FAM90A1_uc001quh.2_Silent_p.L424L	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	424							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GGCTCTGAGCGAGGAAGGCTC	0.592000														41			10		0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131375669	131375669	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131375669C>T	uc004bvl.4	+	38	5180	c.5038C>T	c.(5038-5040)Ctg>Ttg	p.L1680L	SPTAN1_uc004bvm.4_Silent_p.L1685L|SPTAN1_uc004bvn.4_Silent_p.L1660L	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1680					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGTGGAGGCCCTGCTGGCATC	0.478000														57			15		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22890763	22890763	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22890763G>A	uc002zwf.3	-	4	1412	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.S403F|PRAME_uc010gtr.3_Missense_Mutation_p.S419F|PRAME_uc002zwg.3_Missense_Mutation_p.S419F|PRAME_uc002zwh.3_Missense_Mutation_p.S419F|PRAME_uc002zwi.3_Missense_Mutation_p.S419F|PRAME_uc002zwj.3_Missense_Mutation_p.S419F|PRAME_uc002zwk.3_Missense_Mutation_p.S419F	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	419	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GGCAGATATGGAGATGGAATT	0.547000														49			17		0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53603060	53603060	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:53603060C>T	uc001vhl.3	+	0	185	c.89C>T	c.(88-90)cCc>cTc	p.P30L	OLFM4_uc001vhk.2_Missense_Mutation_p.P30L	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	30					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CCTCCAATTCCCAGCCCCGGC	0.602000														191			46		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632266	122632266	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122632266G>A	uc003efz.1	-	16	2590	c.2286C>T	c.(2284-2286)ttC>ttT	p.F762F	SEMA5B_uc011bju.1_Silent_p.F704F|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.F762F|SEMA5B_uc010hro.1_Silent_p.F704F|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	762	TSP type-1 2.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGCACGTCTTGAACTCCTGCG	0.726000														10			5		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120655881	120655881	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:120655881G>A	uc003vjq.4	+	2	859	c.412G>A	c.(412-414)Ggg>Agg	p.G138R	C7orf58_uc003vjr.1_Missense_Mutation_p.G138R|C7orf58_uc003vjs.4_Missense_Mutation_p.G138R	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	138						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					TGCTGGCCTAGGGCCGGGGCT	0.448000														25			10		0	0	1	0	0
KCNN1	3780	broad.mit.edu	37	19	18092675	18092675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18092675C>T	uc002nht.3	+	4	966	c.656C>T	c.(655-657)cCc>cTc	p.P219L	KCNN1_uc010xqa.1_Missense_Mutation_p.P219L	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	219					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						ACGTACGCGCCCTCGGTGGCC	0.652000														25			9		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167645800	167645800	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:167645800C>T	uc010jjd.3	+	22	4877	c.4877C>T	c.(4876-4878)tCc>tTc	p.S1626F	ODZ2_uc003lzr.4_Missense_Mutation_p.S1396F|ODZ2_uc003lzt.4_Missense_Mutation_p.S999F|ODZ2_uc010jje.3_Missense_Mutation_p.S890F	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)		AATGGGAATTCCCTGAAGATC	0.498000														83			41		0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119986065	119986065	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:119986065G>A	uc001pwz.3	-	7	1809	c.1685C>T	c.(1684-1686)tCt>tTt	p.S562F	TRIM29_uc001pwx.3_Non-coding_Transcript|TRIM29_uc010rzi.2_Missense_Mutation_p.S301F|TRIM29_uc010rzj.2_Missense_Mutation_p.S295F|TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	562					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTGCTTGCCAGATTTCCAAGT	0.612000														24			9		0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47300925	47300925	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:47300925G>A	uc010fbb.3	+	20	2880	c.2512G>A	c.(2512-2514)Gag>Aag	p.E838K	TTC7A_uc002rvm.3_Missense_Mutation_p.E780K|TTC7A_uc002rvo.3_Missense_Mutation_p.E814K|TTC7A_uc010fbc.3_Missense_Mutation_p.E460K|TTC7A_uc002rvp.3_Missense_Mutation_p.E695K|C2orf61_uc010fbd.3_Intron|TTC7A_uc002rvq.3_Missense_Mutation_p.E554K|TTC7A_uc002rvr.3_Missense_Mutation_p.E263K	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	814							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TACGTGCCACGAGGCGTGGCA	0.662000														50			30		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705332	30705332	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:30705332G>A	uc003xil.3	-	0	1202	c.1202C>T	c.(1201-1203)tCa>tTa	p.S401L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	401										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTTATAAGATGAAATAACTGT	0.333000														99			19		0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24442218	24442218	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:24442218C>T	uc002kwa.3	-	1	438	c.375G>A	c.(373-375)ggG>ggA	p.G125G	AQP4_uc002kvz.3_Silent_p.G103G	NM_001650	NP_001641	P55087	AQP4_HUMAN	Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA.	125					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CAATGATGGCCCCCAGGCACT	0.557000														67			28		0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118960710	118960710	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:118960710G>A	uc010qsr.2	+	1	264	c.264G>A	c.(262-264)caG>caA	p.Q88Q		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	88						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)		GGCATCTGCAGAAGGTGAAGC	0.517000														166			66		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97150338	97150338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:97150338C>T	uc021rcc.1	+	23	3296	c.3218C>T	c.(3217-3219)tCa>tTa	p.S1073L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1073										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GATCAAAACTCAGGGTAAAAA	0.383000														18			6		0	0	1	0	0
ZNF572	137209	broad.mit.edu	37	8	125989806	125989806	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:125989806G>A	uc003yrr.3	+	2	1451	c.1296G>A	c.(1294-1296)agG>agA	p.R432R		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R432R(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTCACCAAAGGACACATACAG	0.438000										HNSCC(60;0.17)				76			39		0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113464984	113464984	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:113464984C>T	uc001vsj.4	+	4	473	c.385C>T	c.(385-387)Cct>Tct	p.P129S	ATP11A_uc001vsi.4_Missense_Mutation_p.P129S|ATP11A_uc001vsm.1_Missense_Mutation_p.P5S	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	129					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)				GAACCAGTGTCCTGTTCATTT	0.473000														146			16		0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62417456	62417456	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62417456G>A	uc001nud.3	-	1	149	c.96C>T	c.(94-96)tcC>tcT	p.S32S		NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	32					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TGATTTCCTGGGACAGCTCCT	0.493000														55			15		0	0	1	0	0
HRH3	11255	broad.mit.edu	37	20	60791598	60791598	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:60791598C>T	uc002yci.3	-	2	1099	c.802G>A	c.(802-804)Gag>Aag	p.E268K	HRH3_uc002ycf.2_Missense_Mutation_p.E268K|HRH3_uc002ych.3_Missense_Mutation_p.E268K|HRH3_uc002ycg.3_Missense_Mutation_p.E268K	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	268					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GGCATGGCCTCCCCGTGCCCC	0.776000														7			5		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869840	4869840	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4869840G>C	uc010qyo.2	-	0	599	c.599C>G	c.(598-600)gCt>gGt	p.A200G		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCACCCCAAGCTTCTGGGCA	0.532000														91			32		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76752151	76752151	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:76752151G>A	uc002lmt.3	+	1	160	c.160G>A	c.(160-162)Gag>Aag	p.E54K	SALL3_uc010dra.3_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CAGCGTGTGCGAGAAATGCTG	0.687000														18			5		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166234156	166234156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166234156G>A	uc002udc.3	+	22	4594	c.4304G>A	c.(4303-4305)cGa>cAa	p.R1435Q	SCN2A_uc002udd.3_Missense_Mutation_p.R1435Q|SCN2A_uc002ude.3_Missense_Mutation_p.R1435Q	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1435					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTTGATTCACGAAATGTAAGT	0.269000														94			34		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2432910	2432910	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:2432910G>A	uc010qxl.2	-	16	2571	c.2562C>T	c.(2560-2562)gcC>gcT	p.A854A	TRPM5_uc001lwm.4_Silent_p.A854A|TRPM5_uc009ydn.3_Silent_p.A856A	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	854						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTTGTGTATGGCAAAGATAT	0.637000														64			35		0	0	1	0	0
C1orf194	127003	broad.mit.edu	37	1	109649166	109649166	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:109649166C>T	uc009wev.3	-	3	498	c.430G>A	c.(430-432)Gga>Aga	p.G144R	C1orf194_uc001dwp.4_Non-coding_Transcript|C1orf194_uc009wew.3_Missense_Mutation_p.G132R	NM_001122961	NP_001116433	Q5T5A4	CA194_HUMAN	Homo sapiens chromosome 1 open reading frame 194 (C1orf194), mRNA.	144										large_intestine(2)|lung(2)|ovary(2)	6						CCTATGGATCCTTGGATGCTG	0.493000														278			104		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34158556	34158556	+	Silent	SNP	G	A	A	rs142510996		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34158556G>A	uc001bxm.1	-	24	4203	c.4026C>T	c.(4024-4026)atC>atT	p.I1342I	CSMD2_uc001bxn.1_Silent_p.I1302I|CSMD2_uc001bxo.1_Silent_p.I215I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1302	CUB 8.					integral to membrane|plasma membrane	protein binding	p.L1342L(1)|p.E1341Q(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTCTGCTTCGATGGTCCAGA	0.567000														175			19		0	0	1	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709191	128709191	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:128709191C>T	uc001qeo.1	-	1	1056	c.1005G>A	c.(1003-1005)ggG>ggA	p.G335G	KCNJ1_uc001qep.1_Silent_p.G316G|KCNJ1_uc001qeq.1_Silent_p.G316G|KCNJ1_uc001qer.1_Silent_p.G316G|KCNJ1_uc001qes.1_Silent_p.G316G|KCNJ1_uc021qsb.1_Silent_p.G316G	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	335					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	p.G335G(2)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CTCGGTATTTCCCTTCCTTTG	0.493000														60			26		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63883944	63883944	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63883944G>A	uc021qks.1	+	0	205	c.205G>A	c.(205-207)Gac>Aac	p.D69N	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.D69N	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	41					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.N68N(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CTACTGCAACGACCGGGGACT	0.607000														44			23		0	0	1	0	0
PHF7	51533	broad.mit.edu	37	3	52454938	52454938	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52454938C>T	uc003ddy.3	+	6	1239	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PHF7_uc003ddz.3_Missense_Mutation_p.R145C	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA.	145						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TGACAAACATCGCCCAACACA	0.493000														94			38		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183104955	183104955	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:183104955G>T	uc002uos.3	-	3	364	c.280C>A	c.(280-282)Cgg>Agg	p.R94R	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Silent_p.R94R|PDE1A_uc010zfq.1_Silent_p.R94R|PDE1A_uc002uor.3_Silent_p.R78R|PDE1A_uc002uou.3_Silent_p.R60R	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	94					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R94W(6)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AACCAGTCCCGGACTTCAGAT	0.393000														68			30		8.88839e-20	8.93624e-20	1	1	0
LRP2	4036	broad.mit.edu	37	2	170148796	170148796	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170148796C>T	uc002ues.3	-	6	949	c.736G>A	c.(736-738)Gac>Aac	p.D246N	LRP2_uc010zdf.1_Missense_Mutation_p.D246N	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	246	LDL-receptor class A 6.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCTTTACAGTCATCTTCTCCA	0.438000														85			27		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15364970	15364971	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15364970_15364971GG>AA	uc002nar.3	-	10	2372_2373	c.2150_2151CC>TT	c.(2149-2151)tcc>tTT	p.S717F	BRD4_uc002nas.3_Missense_Mutation_p.S717F|BRD4_uc002nat.3_Missense_Mutation_p.S717F	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	717	Ser-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AACCTGTTTCGGAGTCTTCGCT	0.545000			T	C15orf55	lethal midline carcinoma of young people									43			7		0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61156597	61156597	+	Silent	SNP	G	A	A	rs141561710	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61156597G>A	uc002liz.4	+	3	466	c.324G>A	c.(322-324)acG>acA	p.T108T	SERPINB5_uc002liy.2_Silent_p.T108T	NM_002639	NP_002630	P36952	SPB5_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 5 (SERPINB5), mRNA.	108					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TCAGCTCTACGAAGAGACCGT	0.353000														64			8		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81472121	81472121	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81472121G>A	uc001szl.1	+	0	313	c.222G>A	c.(220-222)gaG>gaA	p.E74E	ACSS3_uc001szm.1_Silent_p.E74E	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	74						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CCGACCCCGAGAGGTTCTGGG	0.647000														64			6		0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458239	20458239	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:20458239G>A	uc002zsd.4	-	0	3548	c.3063C>T	c.(3061-3063)ccC>ccT	p.P1021P	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			ATACCACATGGGGGTGGCGGT	0.627000														11			7		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77407037	77407038	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:77407037_77407038GG>AA	uc021sqy.1	-	7	5277_5278	c.4701_4702CC>TT	c.(4699-4704)gacccc>gaTTcc	p.P1568S		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1568	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										AGGATCTCGGGGTCCACCAGAT	0.535000														149			43		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241262032	241262032	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:241262032C>T	uc001hyv.2	-	2	439	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	RGS7_uc010pyh.2_Missense_Mutation_p.E11K|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.E37K|RGS7_uc009xgn.1_Missense_Mutation_p.E37K|RGS7_uc001hyw.2_Missense_Mutation_p.E37K	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	37	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCATTTTTTTCATCTTGCATC	0.348000														37			22		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23912862	23912862	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:23912862G>A	uc001uon.2	-	9	5742	c.5153C>T	c.(5152-5154)tCc>tTc	p.S1718F	SACS_uc001uoo.2_Missense_Mutation_p.S1571F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1718					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGAAGAGCAGGATTTTTTTTT	0.358000														29			40		0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103566713	103566713	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:103566713C>T	uc001ymk.3	+	0	233	c.157C>T	c.(157-159)Ctg>Ttg	p.L53L		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	53										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CCTGGGCTCCCTGAGGCAGGC	0.657000														12			7		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1953695	1953695	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:1953695C>T	uc021qsx.1	-	25	2574	c.2343_splice	c.e25-1	p.R781_splice	CACNA2D4_uc009zds.2_Splice_Site|CACNA2D4_uc009zdt.1_Splice_Site_p.R645_splice|CACNA2D4_uc009zdr.2_Splice_Site	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	781						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCAGGAACTTCCTGCAAGGAG	0.562000														38			8		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926255	1926255	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1926255C>T	uc002qxe.3	-	9	2113	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E	MYT1L_uc002qxd.3_Missense_Mutation_p.G429E|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	429					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGTCAGGTTCCCCTTGGTCAT	0.552000														91			35		0	0	1	0	0
LPPR3	79948	broad.mit.edu	37	19	815761	815761	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:815761C>T	uc002lpw.1	-	2	230	c.166G>A	c.(166-168)Gac>Aac	p.D56N	LPPR3_uc021ulz.1_5'Flank|LPPR3_uc002lpx.1_Missense_Mutation_p.D56N|LPPR3_uc002lpy.1_5'UTR	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 3 (LPPR3), mRNA.	56						integral to membrane	phosphatidate phosphatase activity										AGAGTGCGGTCATAGCACTGG	0.617000														31			7		0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2546536	2546536	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2546536C>T	uc002cql.3	+	1	527	c.387C>T	c.(385-387)tcC>tcT	p.S129S	TBC1D24_uc002cqk.3_Silent_p.S129S|TBC1D24_uc002cqm.3_Silent_p.S129S|TBC1D24_uc010bsm.3_5'Flank	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	129	Rab-GAP TBC.				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CCGACATCTCCTTCTGCCCCG	0.667000														45			21		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408375	29408375	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29408375G>A	uc011dlp.2	+	0	660	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTCGCTTAATGAACTGCAGAT	0.562000														143			71		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64466530	64466530	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:64466530G>A	uc003jtp.3	-	23	3972	c.3158C>T	c.(3157-3159)tCt>tTt	p.S1053F	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	1053	TSP type-1 5.				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)		ACAGTCACTAGATGCCTGTCC	0.453000														53			25		0	0	1	0	0
RAB3IL1	5866	broad.mit.edu	37	11	61672252	61672252	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:61672252G>A	uc001nso.3	-	5	918	c.760C>T	c.(760-762)Ccc>Tcc	p.P254S	RAB3IL1_uc001nsp.3_Missense_Mutation_p.P228S	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	Homo sapiens RAB3A interacting protein (rabin3)-like 1 (RAB3IL1), mRNA.	254							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						TCCAGGCAGGGGCCCACGTCC	0.662000														7			12		0	0	1	0	0
SEC1	653677	broad.mit.edu	37	19	49183689	49183689	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49183689C>T	uc010xzv.2	+	4	836	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	SEC1_uc002pka.3_Missense_Mutation_p.P197S|SEC1_uc010xzw.2_Missense_Mutation_p.P154S|SEC1_uc010ema.3_Missense_Mutation_p.P143S					Homo sapiens secretory blood group 1 (SEC1), non-coding RNA.																		CCGCCACATCCCGGGGCGCTG	0.652000														36			13		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100085	110100085	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110100085C>T	uc003ymz.4	+	0	433	c.344C>T	c.(343-345)tCa>tTa	p.S115L		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	115						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TCCTCTTGTTCAATAACAGCC	0.413000														60			22		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6222303	6222303	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:6222303C>T	uc003mwv.3	-	7	1198	c.1075G>A	c.(1075-1077)Ggg>Agg	p.G359R	F13A1_uc011dib.2_Missense_Mutation_p.G296R	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	359					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCACGTTCCCATCTTCTTCC	0.393000														48			20		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113173432	113173432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113173432C>T	uc010mtz.3	-	36	6896	c.6559G>A	c.(6559-6561)Gaa>Aaa	p.E2187K	SVEP1_uc010mty.3_Missense_Mutation_p.E113K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2187	Sushi 13.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTGTGGCTTCGCAGGTGCTC	0.507000														69			20		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112686832	112686832	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:112686832C>T	uc002thk.1	+	1	319	c.197C>T	c.(196-198)tCa>tTa	p.S66L	MERTK_uc002thl.1_5'UTR|Metazoa_SRP_uc021vmv.1_5'Flank	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	66					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTGATGTTTTCACCAACCCAG	0.557000														40			13		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460402	107460402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:107460402C>T	uc002tdq.3	-	1	151	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	ST6GAL2_uc002tdr.3_Missense_Mutation_p.R11Q|ST6GAL2_uc002tds.3_Missense_Mutation_p.R11Q	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	11					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R11Q(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GAAAAGCATTCGTTGTCTCCA	0.507000														47			23		0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113286461	113286461	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:113286461C>T	uc021xcn.1	+	2	1070	c.419C>T	c.(418-420)cCc>cTc	p.P140L	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.P140L|SIDT1_uc011big.2_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	140						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GAGACGGGACCCTTGCAGCAA	0.493000														153			50		0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44102463	44102463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:44102463G>A	uc003owr.3	+	1	206	c.142G>A	c.(142-144)Gac>Aac	p.D48N	TMEM63B_uc003owq.1_Missense_Mutation_p.D48N|TMEM63B_uc010jyy.1_5'UTR|TMEM63B_uc003ows.3_5'Flank	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	48						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GCTGGCTCTCGACTTCATGTG	0.602000														65			27		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244007	56244007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56244007G>A	uc002qly.3	-	1	1218	c.1190C>T	c.(1189-1191)gCt>gTt	p.A397V		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	397	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGCAGCCAAAGCACACAGGCT	0.453000														127			56		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89381953	89381953	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89381953G>A	uc010upo.1	+	2	504	c.130G>A	c.(130-132)Ggg>Agg	p.G44R	ACAN_uc002bmx.3_Missense_Mutation_p.G44R|ACAN_uc010upp.1_Missense_Mutation_p.G44R|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	44					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)			GGTCCTCCTGGGGACCTCCCT	0.617000														81			83		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605341	171605341	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171605341G>A	uc001ghu.3	-	2	1261	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L	MYOC_uc010pmk.2_Silent_p.L355L	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	413	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGGTTTGTTCGAGTTCCAGAT	0.522000														121			55		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901448	160901448	+	Silent	SNP	G	A	A	rs147284017	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:160901448G>A	uc002ube.2	-	1	542	c.330C>T	c.(328-330)ctC>ctT	p.L110L	PLA2R1_uc010zcp.2_Silent_p.L110L|PLA2R1_uc002ubf.3_Silent_p.L110L	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	110	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTAAGGAAACGAGGGTGGAGT	0.542000														77			28		0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117122238	117122238	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117122238G>A	uc004biq.3	-	8	2364	c.2229C>T	c.(2227-2229)ccC>ccT	p.P743P	AKNA_uc004bin.3_5'UTR|AKNA_uc004bio.3_Silent_p.P203P|AKNA_uc004bip.3_Silent_p.P662P|AKNA_uc004bir.3_Silent_p.P743P|AKNA_uc004bis.3_Silent_p.P743P|AKNA_uc010mve.2_Silent_p.P624P|AKNA_uc004biu.1_Silent_p.P484P|AKNA_uc004biv.1_Silent_p.P743P	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	743					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTCGGGCCAGGGGGTCCTGTG	0.632000														37			21		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153077667	153077667	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:153077667G>A	uc011dcy.2	+	8	1255	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	GRIA1_uc003lva.4_Missense_Mutation_p.D400N|GRIA1_uc003luy.4_Missense_Mutation_p.D400N|GRIA1_uc003luz.4_Missense_Mutation_p.D305N|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.D320N|GRIA1_uc011dcx.2_Missense_Mutation_p.D331N|GRIA1_uc011dcz.2_Missense_Mutation_p.D410N|GRIA1_uc010jia.1_Missense_Mutation_p.D380N	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	400					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGCTGGGGGCGATAATTCAAG	0.478000														46			16		0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101086823	101086823	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:101086823G>A	uc003dut.3	-	7	940	c.829C>T	c.(829-831)Ctc>Ttc	p.L277F	SENP7_uc003duu.3_Missense_Mutation_p.L212F|SENP7_uc003duv.3_Missense_Mutation_p.L244F|SENP7_uc003duw.3_Missense_Mutation_p.L211F|SENP7_uc003dux.3_Missense_Mutation_p.L113F	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	277					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCCTGTTCGAGATGATCACAA	0.338000														88			28		0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21564648	21564648	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:21564648G>A	uc001bek.2	-	10	1443	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F	ECE1_uc001bem.2_Silent_p.F440F|ECE1_uc001bej.2_Silent_p.F444F|ECE1_uc001bei.2_Silent_p.F453F|ECE1_uc010odl.1_Silent_p.F456F|ECE1_uc009vqa.1_Silent_p.F456F	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	456					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TGTCCTCGGCGAAGGTTGCTT	0.542000														58			23		0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92484090	92484090	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:92484090G>A	uc001xzy.3	-	4	967	c.593C>T	c.(592-594)tCc>tTc	p.S198F	TRIP11_uc010auf.2_5'Flank	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	198					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGTGCTTTGGAAGTCTAGAT	0.284000			T	PDGFRB	AML									46			10		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45388060	45388060	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45388060G>A	uc001zun.3	-	29	4249	c.4046C>T	c.(4045-4047)tCc>tTc	p.S1349F	DUOX2_uc010bea.3_Missense_Mutation_p.S1349F	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1349	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCCCTTTGGGGATGAGTAGAT	0.632000														47			7		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848833	54848833	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54848833G>A	uc002qfj.3	-	4	847	c.790C>T	c.(790-792)Ccc>Tcc	p.P264S	LILRA4_uc002qfi.3_Missense_Mutation_p.P198S	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	264	Ig-like C2-type 3.					integral to membrane	receptor activity	p.L263L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGGCGCTGGGGGAGGCCATCG	0.662000														24			21		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96792160	96792160	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:96792160G>A	uc001yfi.3	-	14	2628	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	755										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATTGGGAAGCGAACAGAAAGG	0.413000														103			11		0	0	1	0	0
SLC1A3	6507	broad.mit.edu	37	5	36679919	36679919	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:36679919G>A	uc003jkj.4	+	6	1527	c.1051G>A	c.(1051-1053)Ggg>Agg	p.G351R	SLC1A3_uc011cox.2_Missense_Mutation_p.G244R|SLC1A3_uc010iuy.3_Missense_Mutation_p.G351R	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	351					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TTTTATTGGAGGGTTGCTGCA	0.483000														58			30		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179497989	179497989	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179497989G>A	uc021vsy.1	-	181	35532	c.35307C>T	c.(35305-35307)caC>caT	p.H11769H	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.H5464H|TTN_uc021vta.1_Silent_p.H5397H|TTN_uc021vtb.1_Silent_p.H5272H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12696	Glu-rich.|Pro-rich.						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)			CAATTTCAAAGTGGGCTGTTT	0.413000														79			49		0	0	1	0	0
PA2G4	5036	broad.mit.edu	37	12	56504387	56504387	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56504387C>T	uc001sjm.3	+	8	1172	c.753C>T	c.(751-753)ccC>ccT	p.P251P		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	251					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AACGAGACCCCTCTAAACAGT	0.433000														66			29		0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66358116	66358116	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66358116C>G	uc001oiq.4	-	0	2439	c.2371G>C	c.(2371-2373)Gag>Cag	p.E791Q	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	791										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AAGATTAACTCTATCTCCTCC	0.517000														162			64		0	0	1	0	0
DEPTOR	64798	broad.mit.edu	37	8	121013894	121013894	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:121013894C>T	uc003yow.4	+	4	922	c.735C>T	c.(733-735)ccC>ccT	p.P245P	DEPTOR_uc011lid.2_Silent_p.P144P	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	Homo sapiens DEP domain containing MTOR-interacting protein (DEPTOR), mRNA.	245	Ser-rich.				intracellular signal transduction|negative regulation of TOR signaling cascade|negative regulation of cell size|negative regulation of protein kinase activity|regulation of apoptosis	intracellular	protein binding	p.P245A(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						ATGACAGTCCCTTCTGCCTGA	0.493000														60			15		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61945235	61945235	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61945235G>A	uc011aau.2	+	17	2450	c.2350G>A	c.(2350-2352)Gag>Aag	p.E784K	COL20A1_uc011aav.2_Missense_Mutation_p.E605K	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	784	Fibronectin type-III 6.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTTGGGACCCGAGAAATCCGT	0.672000														32			4		0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954982	12954982	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12954982G>A	uc001auo.3	-	2	374	c.301C>T	c.(301-303)Caa>Taa	p.Q101*		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	101										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGCACTTGAAGTTTCCAC	0.527000														316			50		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687295	27687295	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:27687295G>A	uc001itu.2	-	3	2350	c.2232C>T	c.(2230-2232)atC>atT	p.I744I		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	744					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGGAAGAAATGATTTCATTTG	0.308000														42			16		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925570	54925570	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54925570C>T	uc001sgc.4	+	24	2821	c.2742C>T	c.(2740-2742)atC>atT	p.I914I	NCKAP1L_uc010sox.2_Silent_p.I456I|NCKAP1L_uc010soy.2_Silent_p.I864I	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	914					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTGGGGTTATCCTCAGTTTCA	0.493000														48			20		0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032408	30032408	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:30032408C>T	uc021qfi.1	-	0	1818	c.1818G>A	c.(1816-1818)ggG>ggA	p.G606G	KCNA4_uc001msk.3_Silent_p.G606G	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	606						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CTGACTTGTCCCCCAGGGAAG	0.468000														57			29		0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134617988	134617989	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:134617988_134617989CC>TT	uc003vrz.3	+	4	934_935	c.468_469CC>TT	c.(466-471)cgccaa>cgTTaa	p.Q157*	CALD1_uc003vry.3_Nonsense_Mutation_p.Q157*|CALD1_uc003vsb.3_Nonsense_Mutation_p.Q157*|CALD1_uc011kpt.2_5'UTR|CALD1_uc010lmm.3_Nonsense_Mutation_p.Q157*|CALD1_uc003vsc.3_Nonsense_Mutation_p.Q151*|CALD1_uc003vsd.3_Nonsense_Mutation_p.Q151*|CALD1_uc011kpu.2_Nonsense_Mutation_p.Q162*|CALD1_uc011kpv.2_Nonsense_Mutation_p.Q21*|CALD1_uc003vse.3_Nonsense_Mutation_p.Q21*	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	157	Myosin and calmodulin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GTGAAAGTCGCCAAGAAAGATA	0.406000														20			9		0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621331	144621331	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144621331G>A	uc003yyd.2	-	1	235	c.206C>T	c.(205-207)tCg>tTg	p.S69L		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	69					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTTGCGCCACGAAGGCCCATG	0.672000														99			32		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107732116	107732116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107732116G>A	uc010ljo.1	-	13	1740	c.1656C>T	c.(1654-1656)ctC>ctT	p.L552L	LAMB4_uc003vey.2_Silent_p.L552L	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	552	Laminin EGF-like 5; truncated.|Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGCCTCGTAGAGATAGAAAT	0.493000														90			32		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488194	24488194	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:24488194C>T	uc003jgr.2	-	11	2451	c.1945G>A	c.(1945-1947)Gat>Aat	p.D649N	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	649					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		TCTCTGATATCTTCTTTTGAC	0.433000										HNSCC(23;0.051)				87			18		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911020	230911020	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:230911020C>T	uc002vqd.2	-	3	1281	c.822G>A	c.(820-822)agG>agA	p.R274R	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.R274R|SLC16A14_uc002vqf.3_Silent_p.R274R	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	274						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ACATGTTCTTCCTGTGCCCGG	0.592000														92			42		0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151128379	151128379	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151128379G>A	uc004ffi.3	-	5	770	c.716C>T	c.(715-717)tCc>tTc	p.S239F	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	239					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCTTCCAGGAGTTCTTCTC	0.433000														39			32		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55569295	55569295	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:55569295C>T	uc021pqv.1	-	34	4593	c.4565G>A	c.(4564-4566)aGa>aAa	p.R1522K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqw.1_Silent_p.K1508K|PCDH15_uc010qht.2_Silent_p.K1503K|PCDH15_uc021pqx.1_Missense_Mutation_p.R1520K	NM_001142770	NP_001136242	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant J, mRNA.	0					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)				TTTTAATTTTCTTTGGCTCTT	0.403000										HNSCC(58;0.16)				231			45		0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212180634	212180634	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:212180634G>A	uc001hiw.2	-	5	937	c.714C>T	c.(712-714)ttC>ttT	p.F238F	INTS7_uc001hix.2_Silent_p.F114F|INTS7_uc009xdb.2_Silent_p.F238F|INTS7_uc001hiy.2_Silent_p.F238F|INTS7_uc010pta.2_Silent_p.F189F	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	Homo sapiens integrator complex subunit 7 (INTS7), transcript variant 1, mRNA.	238					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CAAGCAGAGTGAAAGTGTGCA	0.398000														42			22		0	0	1	0	0
GM2A	2760	broad.mit.edu	37	5	150646957	150646957	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:150646957G>A	uc003ltr.4	+	3	692	c.527G>A	c.(526-528)aGc>aAc	p.S176N	GM2A_uc011dcr.2_Intron	NM_000405	NP_000396	P17900	SAP3_HUMAN	Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 1, mRNA.	176						lysosome|nucleolus	sphingolipid activator protein activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCCTGAGCAGCAGTGGGAAG	0.577000														51			12		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240611	3240611	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:3240611C>T	uc004crg.4	-	4	3272	c.3115G>A	c.(3115-3117)Gac>Aac	p.D1039N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1039						extracellular region				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)				TGGATGTTGTCTGTCAGTCCT	0.428000														38			68		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47675066	47675066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:47675066C>T	uc003oyz.1	+	2	256	c.256C>T	c.(256-258)Cac>Tac	p.H86Y	GPR115_uc003oza.1_Missense_Mutation_p.H29Y|GPR115_uc003ozb.1_Missense_Mutation_p.H29Y	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	29					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ATCCAAGATTCACCTAAAAGT	0.383000														100			8		0	0	1	0	0
TMEM44	93109	broad.mit.edu	37	3	194344019	194344019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:194344019G>A	uc010hzn.3	-	4	752	c.546C>T	c.(544-546)ggC>ggT	p.G182G	TMEM44_uc003fuf.3_Silent_p.G182G|TMEM44_uc003fue.3_Silent_p.G182G|TMEM44_uc011bsv.2_Silent_p.G182G|TMEM44_uc003fuh.1_Non-coding_Transcript	NM_001166305	NP_001159777	Q2T9K0	TMM44_HUMAN	Homo sapiens transmembrane protein 44 (TMEM44), transcript variant 3, mRNA.	182						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CCAGCAGGTAGCCGAGGATCT	0.577000														9			7		0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47981665	47981665	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:47981665C>T	uc002zjo.2	+	33	4219	c.4036C>T	c.(4036-4038)Cgt>Tgt	p.R1346C	DIP2A_uc011afz.1_Missense_Mutation_p.R1342C|DIP2A_uc002zjs.2_Missense_Mutation_p.R26C|DIP2A_uc002zjt.2_5'Flank	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1346					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TTTTAGGGTTCGTTTGGTAGA	0.458000														130			33		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28497335	28497335	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28497335C>T	uc003nll.2	+	1	197	c.195C>T	c.(193-195)ctC>ctT	p.L65L	GPX5_uc003nlm.2_Silent_p.L65L|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	65					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	p.L65H(1)		endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	AGCACATCCTCTTCGTCAACG	0.438000														68			37		0	0	1	0	0
AGMAT	79814	broad.mit.edu	37	1	15909693	15909693	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:15909693G>A	uc001awv.2	-	1	613	c.470C>T	c.(469-471)aCc>aTc	p.T157I	DNAJC16_uc001awu.3_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.	157					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		ATTACCCAAGGTCAGAGGAAT	0.493000														43			15		0	0	1	0	0
SWAP70	23075	broad.mit.edu	37	11	9715787	9715787	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:9715787C>T	uc001mhw.3	+	1	293	c.194C>T	c.(193-195)tCc>tTc	p.S65F	SWAP70_uc001mhv.3_Missense_Mutation_p.S65F|SWAP70_uc001mhx.3_Missense_Mutation_p.S65F	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN	Homo sapiens SWAP switching B-cell complex 70kDa subunit (SWAP70), mRNA.	65						cytoplasm|lamellipodium|nucleus|plasma membrane	DNA binding|calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GGTCCAGTGTCCAACCAGGGC	0.453000														107			25		0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142586786	142586786	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:142586786C>T	uc011dbj.2	+	20	2047	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	ARHGAP26_uc003lmt.3_Missense_Mutation_p.S671L|ARHGAP26_uc003lmw.3_Intron	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	671	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCAACTTCACCCCTCTCG	0.592000														114			33		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129122724	129122724	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:129122724C>T	uc011koy.2	+	19	2131	c.2091C>T	c.(2089-2091)gcC>gcT	p.A697A	FAM40B_uc003vow.3_Silent_p.A697A|FAM40B_uc011koz.2_Silent_p.A189A	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	697								p.R696W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TAAAGCGGGCCCTCAAGGTCA	0.443000														90			34		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340705	121340705	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121340705G>A	uc003eeg.2	+	2	639	c.429G>A	c.(427-429)atG>atA	p.M143I		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	143					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CCTTGAAAATGGTGGAACTTT	0.507000														34			11		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139155304	139155304	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:139155304C>T	uc003yuy.3	-	15	3760	c.3589G>A	c.(3589-3591)Gaa>Aaa	p.E1197K	FAM135B_uc003yux.3_Missense_Mutation_p.E1098K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E759K|FAM135B_uc003yvb.3_3'UTR	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1197										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)			TGAATGATTTCATCCAATAAC	0.458000										HNSCC(54;0.14)				60			6		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331606	70331606	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70331606G>A	uc001oqc.3	-	20	4706	c.4594C>T	c.(4594-4596)Cag>Tag	p.Q1532*	SHANK2_uc010rqn.2_Nonsense_Mutation_p.Q1008*|SHANK2_uc001opz.3_Nonsense_Mutation_p.Q1003*|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1219					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTCCTTGGCTGGAGAACCTTG	0.577000														108			34		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834479	125834479	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:125834479G>A	uc001uhe.1	+	1	542	c.534G>A	c.(532-534)ggG>ggA	p.G178G	TMEM132B_uc021rgl.1_Silent_p.G68G	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	178						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)		GGCTGCAAGGGGCCCCAGGGC	0.627000														73			26		0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57148260	57148260	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:57148260G>A	uc002iwy.4	-	8	1177	c.733C>T	c.(733-735)Ctt>Ttt	p.L245F	TRIM37_uc002iwz.4_Missense_Mutation_p.L245F|TRIM37_uc002ixa.4_Missense_Mutation_p.L123F|TRIM37_uc010woc.2_Missense_Mutation_p.L211F	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	245						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AACATCATAAGGATCTCTGAG	0.388000									Mulibrey Nanism					70			25		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137716508	137716508	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:137716508C>T	uc004cfe.3	+	61	5143	c.4761C>T	c.(4759-4761)atC>atT	p.I1587I	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1587	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGCGGAACATCGACGCCAGCC	0.642000														41			13		0	0	1	0	0
NXT1	29107	broad.mit.edu	37	20	23334836	23334836	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:23334836C>T	uc021wbj.1	+	0	158	c.158C>T	c.(157-159)tCa>tTa	p.S53L	NXT1_uc002wsx.1_Missense_Mutation_p.S53L	NM_013248	NP_037380	Q9UKK6	NXT1_HUMAN	Homo sapiens NTF2-like export factor 1 (NXT1), mRNA.	53	NTF2.					cytoplasm|nuclear pore				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AATGCTGTTTCAGGACAAGAA	0.507000														55			29		0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166785697	166785697	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166785697G>A	uc002udk.3	-	10	1467	c.1334C>T	c.(1333-1335)cCt>cTt	p.P445L	TTC21B_uc002udl.3_Missense_Mutation_p.P445L	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	445						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CAAGAAATCAGGATTTAGCTT	0.343000														49			18		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63059015	63059015	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63059015G>A	uc009yor.3	+	1	614	c.406G>A	c.(406-408)Gac>Aac	p.D136N	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.D84N	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	136						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTCCAGTGGGACCTGGTATG	0.463000														45			16		0	0	1	0	0
MYEOV2	150678	broad.mit.edu	37	2	241069402	241069402	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241069402G>A	uc002vyu.1	-	3	307	c.307C>T	c.(307-309)Ccc>Tcc	p.P103S		NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TGCAGTGCGGGAACCATGGAG	0.602000														47			20		0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839623	15839623	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15839623C>T	uc002nbm.2	+	0	790	c.770C>T	c.(769-771)tCt>tTt	p.S257F		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GGCTTTGCCTCTGTCATCTAC	0.562000														111			29		0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41564759	41564759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:41564759C>T	uc003azl.4	+	24	4455	c.4060C>T	c.(4060-4062)Cca>Tca	p.P1354S		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1354					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGAATCCTTTCCATACCGAAC	0.458000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					87			21		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1258015	1258015	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1258015C>T	uc002cks.3	+	15	3405	c.3157C>T	c.(3157-3159)Ctg>Ttg	p.L1053L	CACNA1H_uc002ckt.3_Silent_p.L1053L|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1053					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)	TCCCGCAGAGCTGAAGATGTG	0.667000														9			5		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186673345	186673345	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:186673345G>A	uc002upl.3	+	16	19579	c.19579G>A	c.(19579-19581)Gaa>Aaa	p.E6527K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.									p.E1136K(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AACCAACAAAGAATTTTATTA	0.303000														30			6		0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606746	55606746	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55606746C>T	uc010rio.2	+	0	519	c.519C>T	c.(517-519)ttC>ttT	p.F173F		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G172C(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTCATGGTTTCAACACAATCA	0.438000														63			8		0	0	1	0	0
HMGCR	3156	broad.mit.edu	37	5	74643088	74643088	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:74643088C>T	uc011cst.2	+	5	822	c.570C>T	c.(568-570)ctC>ctT	p.L190L	HMGCR_uc003kdp.3_Silent_p.L170L|HMGCR_uc003kdq.3_Silent_p.L170L|HMGCR_uc010izn.1_Silent_p.L10L	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	170					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CGTTTACCCTCGATGCTCTTG	0.378000														225			92		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104709366	104709366	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:104709366G>A	uc003ylp.3	+	1	368	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.	108	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)			GAAGATGGGAGAAGAATCACA	0.403000										HNSCC(12;0.0054)				58			21		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234581300	234581300	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234581300G>A	uc002vus.3	+	0	757	c.720G>A	c.(718-720)acG>acA	p.T240T	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Silent_p.T240T	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	243					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CACCTGTTACGGAGTATGATC	0.428000														445			171		0	0	1	0	0
KIF3A	11127	broad.mit.edu	37	5	132062122	132062122	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:132062122G>A	uc011cxf.2	-	2	503	c.349C>T	c.(349-351)Cct>Tct	p.P117S	KIF3A_uc003kxn.3_Missense_Mutation_p.P76S|KIF3A_uc003kxo.3_Missense_Mutation_p.P117S|KIF3A_uc003kxp.3_Missense_Mutation_p.P117S	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	Homo sapiens kinesin family member 3A (KIF3A), mRNA.	117	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTAAGTTCAGGAATAGCTCGA	0.368000														111			36		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54803193	54803193	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54803193C>T	uc002qfd.3	-	3	576	c.484G>A	c.(484-486)Gat>Aat	p.D162N	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	161	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGTGTTCATCTTCTCCTTCC	0.577000														105			68		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111748180	111748180	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:111748180G>C	uc001tsa.2	+	14	1748	c.1594G>C	c.(1594-1596)Ggt>Cgt	p.G532R		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	532	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCACTGGGCGGTCCTGAGCC	0.741000														20			3		0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37710234	37710234	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:37710234C>T	uc002yvi.3	+	3	526	c.450C>T	c.(448-450)ttC>ttT	p.F150F	MORC3_uc021wiz.1_5'Flank	NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	150					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	PML body|aggresome|intermediate filament cytoskeleton	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TAGTGGCATTCAACAAGCACC	0.378000														116			53		0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141888927	141888927	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:141888927G>A	uc003iio.1	-	1	1239	c.585C>T	c.(583-585)atC>atT	p.I195I	RNF150_uc010iok.1_Silent_p.I195I|RNF150_uc003iip.1_Silent_p.I195I	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	195						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TCCGGGTTCCGATGGTGATGT	0.478000														162			55		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139221945	139221945	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:139221945C>T	uc003leu.1	+	14	2407	c.2202C>T	c.(2200-2202)gcC>gcT	p.A734A		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	734					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)			CCCGGCTGGCCACTCTGGAAG	0.552000														61			22		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808137	48808137	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:48808137C>T	uc002rwp.2	+	1	479	c.365C>T	c.(364-366)tCc>tTc	p.S122F	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.S122F|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.S122F|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.S122F|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.S122F	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	122					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGAGAATCTTCCTTACTGCCT	0.473000														53			32		0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94746701	94746701	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:94746701G>A	uc022aye.1	-	0	1938	c.1938C>T	c.(1936-1938)ctC>ctT	p.L646L	RBM12B_uc003yfz.3_Silent_p.L646L	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	646							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTCCTCGGGGAGCTGCCTGA	0.647000														146			26		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99724046	99724046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:99724046C>T	uc001yga.3	-	1	456	c.189G>A	c.(187-189)atG>atA	p.M63I	BCL11B_uc001ygb.3_Missense_Mutation_p.M63I	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	63						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		AGGGGAAGTTCATTTGACACT	0.577000			T	TLX3	T-ALL									56			27		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177247899	177247899	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:177247899C>T	uc001glf.3	+	6	1525	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	FAM5B_uc010pna.1_Missense_Mutation_p.R155C|FAM5B_uc001glg.3_Missense_Mutation_p.R300C	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	405						extracellular region		p.P404P(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						TCGCCAGCCTCGCTTCCGCCT	0.617000														65			21		0	0	1	0	0
WARS	7453	broad.mit.edu	37	14	100813129	100813129	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:100813129G>A	uc001yhh.1	-	6	1161	c.780C>T	c.(778-780)ttC>ttT	p.F260F	WARS_uc001yhi.1_Silent_p.F219F|WARS_uc001yhg.2_Silent_p.F260F|WARS_uc001yhl.1_Silent_p.F260F|WARS_uc001yhk.1_Silent_p.F219F	NM_004184	NP_998811	P23381	SYWC_HUMAN	Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	260					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TCACTTGGTTGAAGGTAACAT	0.488000														72			14		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832813	130832813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:130832813C>T	uc010fmh.2	-	16	2632	c.2232G>A	c.(2230-2232)atG>atA	p.M744I		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	744	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCATGCCCCCCATCATGCCCT	0.622000														77			39		0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203194880	203194880	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203194880G>A	uc001gzn.2	-	2	270	c.174C>T	c.(172-174)ttC>ttT	p.F58F	CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Silent_p.F68F	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	58					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCATGCCAGCGAAGGCGTAGA	0.572000														84			7		0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61958450	61958450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61958450G>A	uc002jcl.1	-	2	292	c.230C>T	c.(229-231)tCc>tTc	p.S77F	GH2_uc002jcn.1_Missense_Mutation_p.S62F|GH2_uc002jco.1_Missense_Mutation_p.S77F|GH2_uc002jcm.1_Missense_Mutation_p.S77F	NM_022557	NP_072051	P01242	SOM2_HUMAN	Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA.	77						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GAAGCAGAGGGAGGTCTGGGG	0.532000														285			108		0	0	1	0	0
C22orf25	128989	broad.mit.edu	37	22	20049180	20049180	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:20049180C>T	uc002zrg.2	+	6	883	c.702C>T	c.(700-702)ctC>ctT	p.L234L	C22orf25_uc010grw.2_Silent_p.L193L|C22orf25_uc002zrc.1_Silent_p.L193L|C22orf25_uc011ahg.1_Intron|C22orf25_uc011ahh.1_Silent_p.L193L|C22orf25_uc011ahi.1_Silent_p.L95L|C22orf25_uc002zrf.2_Silent_p.L131L|C22orf25_uc011ahf.1_Intron|C22orf25_uc011ahe.1_Intron|C22orf25_uc010gry.1_Intron	NM_152906	NP_690870	Q6ICL3	CV025_HUMAN	Homo sapiens chromosome 22 open reading frame 25 (C22orf25), mRNA.	193										breast(2)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)	10	Colorectal(54;0.0533)					TCGCCAGCCTCCTGGATGTGC	0.642000														8			3		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6125769	6125769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6125769C>T	uc001qnn.1	-	29	5474	c.5224G>A	c.(5224-5226)Gac>Aac	p.D1742N	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1742	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CATGGCACGTCAATGGTGGTG	0.542000														49			30		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58583660	58583660	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:58583660T>G	uc002env.3	-	24	3778	c.3485A>C	c.(3484-3486)aAc>aCc	p.N1162T	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.N1157T|CNOT1_uc002enx.3_Missense_Mutation_p.N1162T|CNOT1_uc002enz.1_Missense_Mutation_p.N591T|CNOT1_uc010vik.2_Missense_Mutation_p.N158T|SNORA46_uc002eny.1_5'Flank	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1162					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AACCATCTTGTTAAATTCAGG	0.328000														108			39		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43243749	43243749	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:43243749G>A	uc002lbe.3	+	11	2168	c.1352_splice	c.e11-1	p.G451_splice	SLC14A2_uc010dnj.3_Splice_Site_p.G451_splice	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	451						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCCTGGCTAGGAGGCGGTGG	0.582000														32			17		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752519	19752519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19752519C>T	uc009zzj.3	-	2	347	c.242G>A	c.(241-243)gGa>gAa	p.G81E		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	81					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCTATAGGTTCCTGTGCGCAC	0.488000														79			31		0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55043987	55043987	+	RNA	SNP	C	T	T	rs144980151	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55043987C>T	uc010yfa.1	+	0		c.79C>T			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		AGCTCAACCCCTGTGTCCTGC	0.522000														137			33		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26663466	26663466	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:26663466G>A	uc001mqt.4	+	21	2310	c.2165G>A	c.(2164-2166)cGa>cAa	p.R722Q	ANO3_uc010rdr.2_Missense_Mutation_p.R706Q|ANO3_uc010rds.2_Missense_Mutation_p.R561Q|ANO3_uc010rdt.2_Missense_Mutation_p.R576Q	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	722						chloride channel complex	chloride channel activity	p.R722Q(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGGTGGTCACGACATAAAATC	0.428000														88			22		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17107960	17107960	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17107960C>T	uc002nfb.3	-	10	1229	c.1197G>A	c.(1195-1197)acG>acA	p.T399T		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	352						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACTGCTTCCTCGTGTCCTTGG	0.637000														40			24		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284387	52284387	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52284387G>A	uc001rzd.3	+	4	835	c.657G>A	c.(655-657)gtG>gtA	p.V219V	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Silent_p.V94V|ANKRD33_uc001rze.3_Silent_p.V115V|ANKRD33_uc001rzg.4_Silent_p.V21V|ANKRD33_uc001rzi.4_Silent_p.V94V	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	94										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TGACAGCAGTGGACCCTGTTC	0.617000														16			8		0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141645147	141645147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141645147C>T	uc003vwv.1	-	2	330	c.133G>A	c.(133-135)Gga>Aga	p.G45R	CLEC5A_uc011krm.1_Missense_Mutation_p.G45R|CLEC5A_uc003vww.1_Missense_Mutation_p.G45R|CLEC5A_uc010lnq.1_Missense_Mutation_p.G45R|CLEC5A_uc010lnr.1_Non-coding_Transcript	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	45					anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TTACCTGTTCCATAGCTCCTG	0.458000														59			39		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770069	38770069	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38770069G>A	uc003ciq.3	-	14	2604	c.2604C>T	c.(2602-2604)atC>atT	p.I868I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	868					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCAAGAAAAGGATGAGGCATA	0.517000														46			19		0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43026203	43026203	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43026203C>T	uc002otv.3	-	2	711	c.576G>A	c.(574-576)caG>caA	p.Q192Q	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Non-coding_Transcript|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eii.3_5'Flank|CEACAM1_uc010eij.3_Silent_p.Q192Q|CEACAM1_uc002otw.3_Silent_p.Q192Q|CEACAM1_uc002otx.3_Silent_p.Q192Q|CEACAM1_uc002oty.3_Silent_p.Q192Q|CEACAM1_uc002otz.3_Silent_p.Q192Q|CEACAM1_uc010eik.3_Intron|CEACAM1_uc002oua.3_Silent_p.Q192Q|CEACAM1_uc002oub.3_Silent_p.Q192Q|CEACAM1_uc002ouc.3_Silent_p.Q192Q	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	192	Ig-like C2-type 1.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CATTGGACAGCTGCAGCCTGG	0.532000														264			60		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200967555	200967555	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:200967555G>A	uc001gvs.2	-	13	2351	c.2034C>T	c.(2032-2034)atC>atT	p.I678I	KIF21B_uc009wzl.2_Silent_p.I678I|KIF21B_uc001gvr.2_Silent_p.I678I|KIF21B_uc010ppn.2_Silent_p.I678I	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	678					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTGTGTCTCGGATCTTGTTCT	0.602000														116			35		0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18828563	18828563	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:18828563G>A	uc001ipr.2	+	13	1953	c.1893G>A	c.(1891-1893)aaG>aaA	p.K631K	CACNB2_uc001ipt.2_Silent_p.K593K|CACNB2_uc009xjz.1_Silent_p.K381K|CACNB2_uc001ips.2_Silent_p.K607K|CACNB2_uc001ipu.3_Silent_p.K603K|CACNB2_uc001ipv.3_Silent_p.K579K|CACNB2_uc009xka.2_Silent_p.K565K|CACNB2_uc001ipw.2_Silent_p.K538K|CACNB2_uc001ipx.2_Silent_p.K576K|CACNB2_uc001ipz.2_Silent_p.K553K|CACNB2_uc001ipy.2_Silent_p.K577K|CACNB2_uc010qco.1_Silent_p.K545K|CACNB2_uc001iqa.2_Silent_p.K583K|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	631					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATAAATCCAAGGATCGCTACT	0.537000														84			9		0	0	1	0	0
FMR1	2332	broad.mit.edu	37	X	147026416	147026416	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:147026416C>T	uc010nst.3	+	14	1728	c.1499C>T	c.(1498-1500)tCt>tTt	p.S500F	FMR1_uc004fcj.3_Missense_Mutation_p.S477F|FMR1_uc022cgc.1_Intron|FMR1_uc022cgd.1_Non-coding_Transcript|FMR1_uc004fck.4_Intron|FMR1_uc022cge.1_Missense_Mutation_p.S479F|FMR1_uc022cgf.1_Intron|FMR1_uc022cgg.1_Non-coding_Transcript|FMR1_uc004fcl.4_Missense_Mutation_p.S340F|FMR1_uc011mxa.2_Missense_Mutation_p.S147F	NM_002024	NP_002015	Q06787	FMR1_HUMAN	Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA.	500	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAATGCTTCTGAAACAGAA	0.428000									Fragile X syndrome					23			4		0	0	1	0	0
GJB6	10804	broad.mit.edu	37	13	20797319	20797319	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:20797319C>T	uc001und.4	-	2	688	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	GJB6_uc001umz.4_Missense_Mutation_p.E101K|GJB6_uc001unb.4_Missense_Mutation_p.E101K|GJB6_uc001unc.4_Missense_Mutation_p.E101K|GJB6_uc001una.4_Missense_Mutation_p.E101K|GJB6_uc021rhb.1_Missense_Mutation_p.E101K	NM_001110221	NP_006774	O95452	CXB6_HUMAN	Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA.	101					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle		p.H100Q(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		CGAGTGGTTTCGTGCCTGTAG	0.552000														41			12		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168111061	168111061	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:168111061C>T	uc010jjg.3	-	31	4037	c.3617G>A	c.(3616-3618)gGa>gAa	p.G1206E	SLIT3_uc003mab.3_Missense_Mutation_p.G1199E	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1199	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATTGTCTCCTTTGTAGAG	0.582000														64			14		0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98209303	98209303	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:98209303G>A	uc004avk.4	-	22	4423	c.4235C>T	c.(4234-4236)cCc>cTc	p.P1412L	PTCH1_uc010mrn.3_Missense_Mutation_p.P204L|PTCH1_uc010mro.3_Missense_Mutation_p.P1261L|PTCH1_uc010mrp.3_Missense_Mutation_p.P1261L|PTCH1_uc010mrq.3_Missense_Mutation_p.P1261L|PTCH1_uc004avl.4_Missense_Mutation_p.P1261L|PTCH1_uc004avm.4_Missense_Mutation_p.P1411L|PTCH1_uc010mrr.3_Missense_Mutation_p.P1346L	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1412					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AGGCACGTGGGGGTCCTCAAA	0.672000														96			9		0	0	1	0	0
TSPAN18	90139	broad.mit.edu	37	11	44948236	44948236	+	Silent	SNP	G	A	A	rs149091051	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:44948236G>A	uc001myg.3	+	5	637	c.627G>A	c.(625-627)acG>acA	p.T209T	TSPAN18_uc001mye.4_Silent_p.T209T|TP53I11_uc001myf.1_Intron	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	Homo sapiens tetraspanin 18 (TSPAN18), mRNA.	209						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						GCTGTTACACGGTGATCCTCA	0.587000											OREG0020922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		123			22		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262101	1262101	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1262101G>A	uc002cks.3	+	24	4970	c.4722G>A	c.(4720-4722)gaG>gaA	p.E1574E	CACNA1H_uc002ckt.3_Silent_p.E1574E|CACNA1H_uc002cku.3_Silent_p.E280E|CACNA1H_uc010brj.3_Silent_p.E280E|CACNA1H_uc002ckv.3_Silent_p.E280E	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1574					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)	GGCGGCGAGAGGAGAAGCGGC	0.692000														82			13		0	0	1	0	0
MAPK6	5597	broad.mit.edu	37	15	52356461	52356461	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:52356461C>T	uc002abp.3	+	5	2224	c.1430C>T	c.(1429-1431)tCc>tTc	p.S477F		NM_002748	NP_002739	Q16659	MK06_HUMAN	Homo sapiens mitogen-activated protein kinase 6 (MAPK6), mRNA.	477					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		ATAGATCTTTCCAATTGGAAA	0.348000														35			9		0	0	1	0	0
CLEC4D	338339	broad.mit.edu	37	12	8673861	8673861	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8673861G>A	uc001qun.3	+	5	835	c.642G>A	c.(640-642)ttG>ttA	p.L214L		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA.	214					innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GAACAACATTGAACTAGAAAC	0.363000														50			28		0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179520386	179520386	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179520386C>T	uc001gmq.4	-	7	1159	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	AXDND1_uc001gmo.3_Intron|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Intron|AXDND1_uc009wxh.3_Intron|NPHS2_uc009wxi.3_Silent_p.Q290Q|AXDND1_uc001gmr.3_Non-coding_Transcript	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	358					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GGAGGCTTCCCTGAGTTCTGT	0.478000														92			34		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14816850	14816850	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14816850C>T	uc003zlm.3	-	15	3382	c.2566G>A	c.(2566-2568)Gaa>Aaa	p.E856K	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	856					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		tgaagaacttcagttccatca	0.428000														2			3		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117696924	117696924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117696924C>T	uc001twn.2	-	14	3090	c.2379G>A	c.(2377-2379)atG>atA	p.M793I	NOS1_uc021ren.1_Missense_Mutation_p.M457I|NOS1_uc021reo.1_Missense_Mutation_p.M457I|NOS1_uc001twm.2_Missense_Mutation_p.M793I	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	793	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CATATTCTTCCATGGACATCA	0.522000														41			12		0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53925647	53925647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:53925647C>T	uc001cvq.1	+	0	576	c.521C>T	c.(520-522)cCc>cTc	p.P174L		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	174	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						TACCCTGGCCCCCTAGACCTG	0.716000														12			3		0	0	1	0	0
B3GNT6	192134	broad.mit.edu	37	11	76750727	76750727	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:76750727G>A	uc021qnq.1	+	0	132	c.132G>A	c.(130-132)caG>caA	p.Q44Q	B3GNT6_uc021qnp.1_Silent_p.Q44Q			Q6ZMB0	B3GN6_HUMAN	SubName: Full=Uncharacterized protein;	44					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GGTCCCCGCAGGAGGAGACGC	0.716000											OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			14		0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47841689	47841689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:47841689G>A	uc002xuh.3	+	5	707	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	216						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCAGTACGATGAAAACCTCTC	0.418000														120			37		0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116605816	116605816	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:116605816C>T	uc001lcb.3	+	8	1508	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	FAM160B1_uc001lcc.3_Silent_p.F391F	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	391										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						AAAGATTTTTCATTGGTGTTA	0.338000														213			51		0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48230567	48230567	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:48230567G>A	uc003gxz.3	-	1	156	c.65C>T	c.(64-66)tCg>tTg	p.S22L		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	22	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GTTTAAGGGCGATGTCTTCTT	0.388000														85			46		0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28841284	28841284	+	Silent	SNP	C	T	T	rs145751891		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:28841284C>T	uc002dqy.3	+	7	1106	c.939C>T	c.(937-939)atC>atT	p.I313I	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Silent_p.I313I|ATXN2L_uc002dqz.3_Silent_p.I313I|ATXN2L_uc002dra.3_Silent_p.I313I|ATXN2L_uc002drb.3_Silent_p.I313I|ATXN2L_uc002drc.3_Silent_p.I313I|ATXN2L_uc010vdb.2_Silent_p.I313I|ATXN2L_uc002dre.3_Silent_p.I313I|ATXN2L_uc002drf.3_5'UTR	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	313						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCCTACGGATCGCCATGGAGA	0.602000														42			10		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186015882	186015882	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:186015882C>T	uc003fqa.3	-	3	818	c.281G>A	c.(280-282)gGa>gAa	p.G94E	DGKG_uc003fqb.3_Missense_Mutation_p.G94E|DGKG_uc003fqc.3_Missense_Mutation_p.G94E|DGKG_uc011brx.2_Missense_Mutation_p.G94E	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	94					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)	GTTGCTGGCTCCCTCCGTCGG	0.617000														97			22		0	0	1	0	0
IL34	146433	broad.mit.edu	37	16	70693520	70693520	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:70693520G>A	uc002ezh.2	+	6	958	c.403_splice	c.e6-1	p.D135_splice	IL34_uc002ezi.2_Splice_Site_p.D134_splice|IL34_uc021tkk.1_Splice_Site_p.D135_splice	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN	Homo sapiens interleukin 34 (IL34), transcript variant 1, mRNA.	135					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						CTCCTTTCCAGGATGTGGAGG	0.627000														26			8		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872281	51872281	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:51872281G>A	uc002xwo.3	+	1	3171	c.2284G>A	c.(2284-2286)Gat>Aat	p.D762N	TSHZ2_uc021wex.1_Missense_Mutation_p.D759N	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	762					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGAGAACAGCGATCAGCCCAT	0.532000														95			12		0	0	1	0	0
CYP39A1	51302	broad.mit.edu	37	6	46604135	46604135	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46604135A>C	uc003oyf.1	-	4	927	c.723T>G	c.(721-723)gaT>gaG	p.D241E	CYP39A1_uc011dwa.1_Missense_Mutation_p.D221E|CYP39A1_uc010jzd.1_Missense_Mutation_p.D69E	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	Homo sapiens cytochrome P450, family 39, subfamily A, polypeptide 1 (CYP39A1), mRNA.	241					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CCATGGAATTATCTTTTGCAG	0.274000														56			16		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19520786	19520786	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:19520786C>T	uc003jgd.3	-	9	2026	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	CDH18_uc011cnm.2_Missense_Mutation_p.E498K|CDH18_uc003jgc.3_Missense_Mutation_p.E498K|CDH18_uc021xwu.1_Missense_Mutation_p.E498K	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	498	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTAGAATTTTCACATACAATA	0.373000														57			22		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480853	57480853	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57480853G>A	uc009vzx.1	-	11	1467	c.1147C>T	c.(1147-1149)Ccc>Tcc	p.P383S	DAB1_uc001cyt.1_Missense_Mutation_p.P381S|DAB1_uc001cyq.1_Missense_Mutation_p.P381S|DAB1_uc001cyr.1_Missense_Mutation_p.P297S|DAB1_uc009vzw.1_Missense_Mutation_p.P365S|DAB1_uc001cys.1_Missense_Mutation_p.P383S	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	416					cell differentiation|nervous system development			p.G382S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGGGTGAGGGGACCTTGGAAC	0.592000														67			27		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107703405	107703405	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107703405C>T	uc010ljo.1	-	22	3180	c.3096G>A	c.(3094-3096)atG>atA	p.M1032I	LAMB4_uc003vey.2_Missense_Mutation_p.M1032I|LAMB4_uc010ljp.1_Missense_Mutation_p.M1I	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1032	Laminin EGF-like 11.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGGGACACTCCATGGGACTCA	0.532000														39			18		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45861601	45861601	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45861601C>T	uc010gpt.1	+	32	4663	c.4563C>T	c.(4561-4563)gcC>gcT	p.A1521A	TRPM2_uc002zet.1_Silent_p.A1471A|TRPM2_uc002zeu.1_Silent_p.A1471A|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.A1471A|TRPM2_uc002zex.1_Silent_p.A1257A|TRPM2_uc002zey.1_Silent_p.A950A|TRPM2_uc011aff.1_Silent_p.A152A	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1471						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACTCGGGGGCCTCCATCCGAT	0.652000														36			7		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26781309	26781309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:26781309G>A	uc001iss.3	+	2	375	c.54G>A	c.(52-54)gaG>gaA	p.E18E	APBB1IP_uc001isr.3_Silent_p.E18E|APBB1IP_uc009xks.1_Silent_p.E18E	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	18					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TGCTGGGAGAGATGGATCTTC	0.388000														96			39		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249484	52249484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52249484G>A	uc021uyn.1	-	2	910	c.764C>T	c.(763-765)tCc>tTc	p.S255F	FPR1_uc002pxq.3_Missense_Mutation_p.S255F|FPR1_uc021uyo.1_Missense_Mutation_p.S255F	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	255					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)	CTGATATGGGGACCAGCAGAG	0.498000														36			15		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52520529	52520529	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:52520529G>A	uc001vfw.2	-	12	3108	c.2951C>T	c.(2950-2952)cCc>cTc	p.P984L	ATP7B_uc001vfy.2_Missense_Mutation_p.P873L|ATP7B_uc010adv.2_Missense_Mutation_p.P554L|ATP7B_uc001vfx.2_Missense_Mutation_p.P777L|ATP7B_uc010tgt.1_Intron|ATP7B_uc010tgu.1_Missense_Mutation_p.P936L|ATP7B_uc010tgv.1_Missense_Mutation_p.P906L|ATP7B_uc001vfv.2_Missense_Mutation_p.P256L|ATP7B_uc010tgs.1_Missense_Mutation_p.P256L	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	984					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)		CAGGGAGCAGGGGCAGGCAAT	0.622000									Wilson disease					36			5		0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100458845	100458845	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100458845C>T	uc003uwp.3	+	9	1446	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	SLC12A9_uc003uwq.3_Missense_Mutation_p.S346F|SLC12A9_uc011kki.2_5'UTR|SLC12A9_uc003uwr.3_Missense_Mutation_p.S171F|SLC12A9_uc003uws.3_5'UTR|SLC12A9_uc003uwt.3_Missense_Mutation_p.S171F|SLC12A9_uc003uwv.3_5'UTR	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	435						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTGGACCTGTCCTGCCTGAGC	0.632000														121			42		0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58190262	58190262	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58190262G>A	uc002qpu.3	+	4	1988	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	431					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCCACACCAGAAGCTTCCTA	0.398000														99			22		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38958423	38958423	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38958423G>A	uc002oit.3	+	24	3482	c.3352G>A	c.(3352-3354)Gag>Aag	p.E1118K	RYR1_uc002oiu.3_Missense_Mutation_p.E1118K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1118	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGAGCTGACGAGCTGGCCTA	0.632000														50			22		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140235691	140235691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140235691C>T	uc003lhx.2	+	0	58	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	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_Missense_Mutation_p.L20F|PCDHAC2_uc011dad.2_Missense_Mutation_p.L20F	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	34					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)			GCTTCTTCTCCTCGCAGCCTG	0.592000														51			18		0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57016149	57016149	+	Splice_Site	SNP	C	T	T	rs111642444		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:57016149C>T	uc002eki.2	+	14	1378	c.1321_splice	c.e14+1	p.R441_splice	CETP_uc002ekj.2_Splice_Site_p.R381_splice	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	441					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GGTCATGTCTCGTAAGTGTGG	0.592000														55			16		0	0	1	0	0
EDDM3B	64184	broad.mit.edu	37	14	21238538	21238538	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21238538G>A	uc021ron.1	+	0	229	c.229G>A	c.(229-231)Gag>Aag	p.E77K	EDDM3B_uc001vyd.3_Missense_Mutation_p.E77K	NM_022360	NP_071755	P56851	EP3B_HUMAN	Homo sapiens epididymal protein 3B (EDDM3B), mRNA.	77					spermatid development	extracellular region				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GTACAAAATCGAGCATATATG	0.403000														71			25		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099318	168099318	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:168099318C>T	uc002udx.3	+	8	1505	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.S297S|XIRP2_uc010fpq.3_Silent_p.S250S|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	297					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTCCCAGTCCCCTGAACTGC	0.413000														75			43		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176833426	176833426	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176833426C>T	uc001glc.3	-	22	4091	c.3879G>A	c.(3877-3879)gaG>gaA	p.E1293E	ASTN1_uc001glb.1_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1301					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTGCTAGATCTCTTTGCTGT	0.517000														131			60		0	0	1	0	0
RTP3	83597	broad.mit.edu	37	3	46541948	46541948	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46541948G>A	uc003cps.1	+	1	326	c.258G>A	c.(256-258)atG>atA	p.M86I		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA.	86					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		AGGTGAAGATGAGGGTGTTTA	0.522000														187			13		0	0	1	0	0
BATF2	116071	broad.mit.edu	37	11	64756878	64756878	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64756878G>A	uc021qlb.1	-	0	1109	c.568C>T	c.(568-570)Cca>Tca	p.P190S	BATF2_uc001oce.1_Missense_Mutation_p.S98F|BATF2_uc001ocf.1_Missense_Mutation_p.S183F	NM_138456	NP_612465	Q8N1L9	BATF2_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like 2 (BATF2), mRNA.	178						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						CTGCAGGCTGGAACCAGTGTG	0.657000														30			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307514	140307514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140307514C>T	uc003lih.2	+	0	1213	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.S346L	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	371	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACTCTTTCGAACCCAGTA	0.517000														147			9		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46782321	46782321	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:46782321G>A	uc003bhw.1	-	18	6717	c.6717C>T	c.(6715-6717)ttC>ttT	p.F2239F	CELSR1_uc011arc.1_Silent_p.F560F	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2239					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGACGATGACGAAGGGCCGCA	0.677000														10			6		0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106680917	106680917	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:106680917G>A	uc009yxn.1	-	4	1884	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	GUCY1A2_uc001pjg.1_Silent_p.F498F|GUCY1A2_uc010rvo.1_Silent_p.F519F	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	498					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.I497F(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CATCACCAGGGAAAATAGAAT	0.418000														77			20		0	0	1	0	0
ZMYND12	84217	broad.mit.edu	37	1	42914141	42914141	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:42914141G>A	uc001chj.3	-	2	691	c.421C>T	c.(421-423)Ctt>Ttt	p.L141F	ZMYND12_uc010ojt.2_Intron	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN	Homo sapiens zinc finger, MYND-type containing 12 (ZMYND12), transcript variant 1, mRNA.	141						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACTCACCAAGGCTGGCCTCG	0.532000														21			6		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7976251	7976251	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7976251G>A	uc002gjy.1	-	14	2205	c.1944C>T	c.(1942-1944)ttC>ttT	p.F648F		NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	648	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GAATGTCCGGGAAGTGTCCCA	0.687000										Multiple Myeloma(8;0.094)				14			10		0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584834	1584834	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:1584834G>A	uc022brv.1	-	0	618	c.618C>T	c.(616-618)ttC>ttT	p.F206F	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.F206F	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	206						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGTGATCACGAACGGGATGA	0.647000			T	CRLF2	"""B-ALL, Downs associated ALL"""									39			13		0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63173294	63173294	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:63173294C>T	uc001jlo.2	-	5	975	c.606_splice	c.e5-1	p.R202_splice	TMEM26_uc001jlq.3_Non-coding_Transcript|TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	202						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AGGACTATTCCTAGAATACAG	0.363000														43			19		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99305460	99305460	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99305460G>A	uc003uru.3	-	11	1494	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F	ZNF498_uc003urn.3_Non-coding_Transcript|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.	464					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)					AGGTTTGAAGGAGAAGTTCTG	0.348000														172			14		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19070842	19070842	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19070842C>T	uc002dfp.2	+	14	2262	c.2132C>T	c.(2131-2133)tCa>tTa	p.S711L	TMC7_uc002dfq.3_Intron|TMC7_uc010vap.2_Intron	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	0						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TCCAGAGGGTCATGGCTGGGG	0.517000														48			22		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38957887	38957887	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38957887C>T	uc021yzh.1	+	87	13262	c.13153C>T	c.(13153-13155)Cag>Tag	p.Q4385*	DNAH8_uc003ooe.2_Nonsense_Mutation_p.Q4168*	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGAATACATCCAGTCACTGCC	0.408000														182			63		0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45005740	45005740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:45005740G>A	uc003tmh.2	-	15	2233	c.2089C>T	c.(2089-2091)Cgg>Tgg	p.R697W	MYO1G_uc003tmg.2_Missense_Mutation_p.R459W|MYO1G_uc010kym.2_Missense_Mutation_p.R582W|MYO1G_uc003tmi.1_3'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	697						myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						ACCAGTGTCCGGGGTGAGCGG	0.642000														37			10		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77327083	77327083	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:77327083G>A	uc002ffc.4	-	19	3498	c.3079C>T	c.(3079-3081)Ccc>Tcc	p.P1027S	ADAMTS18_uc010chc.1_Missense_Mutation_p.P615S	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	1027	TSP type-1 3.				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						TGGCTCTCGGGGAGGGTTTCT	0.572000														86			46		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111156206	111156206	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:111156206C>T	uc001vqx.3	+	43	4440	c.4151C>T	c.(4150-4152)aCt>aTt	p.T1384I		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1384	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCCCCCGGGACTGTGGGAGCC	0.652000														73			20		0	0	1	0	0
ZDHHC8P1	150244	broad.mit.edu	37	22	23742318	23742318	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:23742318G>A	uc002zxa.4	-	2		c.818C>T			ZDHHC8P1_uc002zxb.4_Non-coding_Transcript|ZDHHC8P1_uc002zwz.4_Non-coding_Transcript					Homo sapiens zinc finger, DHHC-type containing 8 pseudogene 1 (ZDHHC8P1), non-coding RNA.																		CCCAGCACGGGACTGAAGCTG	0.677000														31			8		0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52853451	52853451	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52853451G>A	uc011bem.2	-	16	2078	c.2050C>T	c.(2050-2052)Cct>Tct	p.P684S	ITIH4_uc011bel.2_Missense_Mutation_p.P379S|ITIH4_uc003dfy.3_Missense_Mutation_p.P513S|ITIH4_uc003dfz.3_Missense_Mutation_p.P679S|ITIH4_uc011ben.2_Missense_Mutation_p.P649S	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	679					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GCATGGTCAGGAACATCAGGA	0.602000														87			27		0	0	1	0	0
DENND2D	79961	broad.mit.edu	37	1	111741362	111741362	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111741362C>T	uc001eak.1	-	2	446	c.246G>A	c.(244-246)cgG>cgA	p.R82R	DENND2D_uc001eal.1_Silent_p.R79R	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	Homo sapiens DENN/MADD domain containing 2D (DENND2D), mRNA.	82	UDENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GCAGGTTCTCCCGCTATAAGG	0.557000														43			13		0	0	1	0	0
LOC729020	729020	broad.mit.edu	37	10	105005945	105005945	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105005945C>T	uc009xxi.2	+	0	302	c.192C>T	c.(190-192)gaC>gaT	p.D64D	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	64					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										TAGGCCAGGACCCTTTCTTTG	0.488000														229			89		0	0	1	0	0
ATG16L1	55054	broad.mit.edu	37	2	234200864	234200865	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234200864_234200865CC>TT	uc002vty.3	+	14	1778_1779	c.1521_1522CC>TT	c.(1519-1524)tcccgt>tcTTgt	p.R508C	ATG16L1_uc021vyl.1_Missense_Mutation_p.R392C|ATG16L1_uc002vub.3_Missense_Mutation_p.R366C|ATG16L1_uc002vtz.3_Missense_Mutation_p.R329C|ATG16L1_uc002vud.4_Missense_Mutation_p.R424C|ATG16L1_uc002vua.3_Missense_Mutation_p.R489C|ATG16L1_uc002vtx.2_Missense_Mutation_p.R345C	NM_030803	NP_001177196	Q676U5	A16L1_HUMAN	Homo sapiens ATG16 autophagy related 16-like 1 (S. cerevisiae) (ATG16L1), transcript variant 1, mRNA.	508					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TGAGCTGCTCCCGTGATGACTT	0.475000														60			17		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64428396	64428396	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64428396C>T	uc021qkw.1	-	9	2476	c.2014G>A	c.(2014-2016)Ggc>Agc	p.G672S	NRXN2_uc021qkx.1_Missense_Mutation_p.G641S|NRXN2_uc001oas.3_Missense_Mutation_p.G641S|NRXN2_uc001oaq.3_Missense_Mutation_p.G339S	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	672	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCAGCCAGGCCCCGGAGGTCT	0.682000														33			23		0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183107490	183107490	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183107490G>A	uc003fli.1	-	1	244	c.154C>T	c.(154-156)Ctt>Ttt	p.L52F	MCF2L2_uc003flj.1_Missense_Mutation_p.L52F|MCF2L2_uc003flp.1_Missense_Mutation_p.L87F	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	52	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTACCTGAAAGAATGGCAAAT	0.433000														60			13		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353842	77353842	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:77353842G>A	uc002ffc.4	-	15	2855	c.2436C>T	c.(2434-2436)ttC>ttT	p.F812F	ADAMTS18_uc010chc.1_Silent_p.F400F|ADAMTS18_uc002ffe.1_Silent_p.F508F	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	812	Spacer.				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						CAGCGAAGGGGAACTCCCCAG	0.572000														78			13		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46797136	46797136	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46797136G>T	uc011dwh.1	+	8	1064	c.1056G>T	c.(1054-1056)gcG>gcT	p.A352A	MEP1A_uc010jzh.1_Silent_p.A324A|MEP1A_uc011dwg.1_Silent_p.A46A|MEP1A_uc011dwi.1_Silent_p.A224A	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	324	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CGGGGTCCGCGGAAGAGGCAG	0.537000														136			37		1.30998e-17	1.31662e-17	1	1	0
IQCA1	79781	broad.mit.edu	37	2	237246931	237246931	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:237246931G>A	uc002vwb.2	-	16	2109	c.2075C>T	c.(2074-2076)cCc>cTc	p.P692L	IQCA1_uc002vvz.1_Missense_Mutation_p.P684L|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.P643L	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	684							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AGCATCGAAGGGACGCCGTGT	0.488000														48			22		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38646255	38646255	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38646255G>A	uc021wvo.1	-	9	1535	c.1483C>T	c.(1483-1485)Ccc>Tcc	p.P495S	SCN5A_uc021wvk.1_Missense_Mutation_p.P495S|SCN5A_uc021wvl.1_Missense_Mutation_p.P495S|SCN5A_uc021wvm.1_Missense_Mutation_p.P495S|SCN5A_uc021wvn.1_Missense_Mutation_p.P495S|SCN5A_uc021wvp.1_Missense_Mutation_p.P495S|SCN5A_uc021wvq.1_Missense_Mutation_p.P495S|SCN5A_uc021wvr.1_Missense_Mutation_p.P495S|SCN5A_uc021wvs.1_Missense_Mutation_p.P495S|SCN5A_uc021wvt.1_Missense_Mutation_p.P495S|SCN5A_uc021wvu.1_Missense_Mutation_p.P495S|SCN5A_uc021wvv.1_Missense_Mutation_p.P495S|SCN5A_uc021wvj.1_Missense_Mutation_p.P361S|SCN5A_uc021wvi.1_Missense_Mutation_p.P361S|SCN5A_uc021wvw.1_Missense_Mutation_p.P106S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	495					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCAGACTTGGGGAGCCTGTCC	0.527000														30			15		0	0	1	0	0
C10orf88	80007	broad.mit.edu	37	10	124692119	124692119	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124692119G>A	uc001lgw.2	-	5	1387	c.1162C>T	c.(1162-1164)Ctg>Ttg	p.L388L	C10orf88_uc001lgx.2_Silent_p.L290L	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	Homo sapiens chromosome 10 open reading frame 88 (C10orf88), mRNA.	388										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TTTTCCATCAGTTCCATATTT	0.308000														49			11		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430764	135430764	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:135430764G>A	uc004ezu.1	+	5	5190	c.4899G>A	c.(4897-4899)atG>atA	p.M1633I	GPR112_uc010nsb.1_Missense_Mutation_p.M1428I|GPR112_uc010nsc.1_Missense_Mutation_p.M1400I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1633					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTACAGAAATGATAGAGGCAC	0.448000														53			66		0	0	1	0	0
F12	2161	broad.mit.edu	37	5	176831610	176831610	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176831610C>T	uc003mgo.4	-	7	739	c.690G>A	c.(688-690)agG>agA	p.R230R		NM_000505	NP_000496	P00748	FA12_HUMAN	Homo sapiens coagulation factor XII (Hageman factor) (F12), mRNA.	230	Kringle.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGCGTGGTCCTGGCCAGGC	0.701000									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			7		0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77944600	77944601	+	Missense_Mutation	DNP	CC	TT	TT	rs140615876	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:77944600_77944601CC>TT	uc001xtz.3	-	5	1256_1257	c.1182_1183GG>AA	c.(1180-1185)acggac>acAAac	p.D395N	ISM2_uc001xua.3_Missense_Mutation_p.R279Q|ISM2_uc001xty.3_Missense_Mutation_p.D307N	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	395						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TCATGCATGTCCGTAGCATTGC	0.604000														127			24		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164679	139164679	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:139164679G>A	uc003yuy.3	-	12	2210	c.2039C>T	c.(2038-2040)tCa>tTa	p.S680L	FAM135B_uc003yux.3_Missense_Mutation_p.S581L|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.S242L|FAM135B_uc003yvb.3_Missense_Mutation_p.S242L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	680										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)			TATGATGGATGAAGATCTCTT	0.537000										HNSCC(54;0.14)				100			9		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65253698	65253698	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:65253698C>T	uc001xht.3	-	14	3036	c.2985G>A	c.(2983-2985)agG>agA	p.R995R	SPTB_uc001xhr.3_Silent_p.R995R|SPTB_uc001xhs.3_Silent_p.R995R|SPTB_uc001xhu.3_Silent_p.R995R	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	995					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.R995R(2)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTGACAACTTCCTCTGGATGG	0.607000														39			20		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249993	52249993	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52249993C>T	uc021uyn.1	-	2	401	c.255G>A	c.(253-255)aaG>aaA	p.K85K	FPR1_uc002pxq.3_Silent_p.K85K|FPR1_uc021uyo.1_Silent_p.K85K	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	85					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)	CTCCCATGGCCTTCCTGACCA	0.512000														104			11		0	0	1	0	0
MXRA8	54587	broad.mit.edu	37	1	1290374	1290374	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1290374C>T	uc001aex.4	-	4	668	c.637G>A	c.(637-639)Ggg>Agg	p.G213R	MXRA8_uc001aew.3_Missense_Mutation_p.G213R|MXRA8_uc001aey.4_Missense_Mutation_p.G213R|MXRA8_uc001aez.3_Missense_Mutation_p.G112R|MXRA8_uc001afa.3_Missense_Mutation_p.G204R	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	Homo sapiens matrix-remodelling associated 8 (MXRA8), mRNA.	213	Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGCGGGACCCCGGGCGGCTGC	0.741000														7			5		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31876828	31876828	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:31876828C>T	uc003tcm.2	-	10	1630	c.1169G>A	c.(1168-1170)tGg>tAg	p.W390*	PDE1C_uc003tcn.1_Nonsense_Mutation_p.W390*|PDE1C_uc003tco.2_Nonsense_Mutation_p.W450*|PDE1C_uc003tcr.3_Nonsense_Mutation_p.W390*|PDE1C_uc003tcs.3_Nonsense_Mutation_p.W390*	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	390	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGACATTGTCCAGCGATGATG	0.428000														83			17		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43106982	43106982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43106982G>A	uc011dve.1	+	8	1537	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	PTK7_uc003oub.1_Missense_Mutation_p.E491K|PTK7_uc003ouc.1_Missense_Mutation_p.E491K|PTK7_uc003oud.1_Missense_Mutation_p.E491K|PTK7_uc003oue.1_Intron|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	491					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CGGCAGCATCGAGGCGCAAGC	0.607000														34			20		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14378223	14378223	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:14378223C>T	uc003ssz.3	-	21	2229	c.2042G>A	c.(2041-2043)cGa>cAa	p.R681Q	DGKB_uc011jxt.2_Missense_Mutation_p.R662Q|DGKB_uc003sta.3_Missense_Mutation_p.R681Q|DGKB_uc011jxu.2_Missense_Mutation_p.R680Q	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	681					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|protein binding	p.R681*(2)|p.R681Q(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TCGATGGCTTCGTCTTTTCTT	0.398000														81			36		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52603771	52603771	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:52603771C>T	uc001jjj.3	-	3	399	c.211G>A	c.(211-213)Gag>Aag	p.E71K	A1CF_uc010qho.2_Missense_Mutation_p.E79K|A1CF_uc010qhn.2_Missense_Mutation_p.E79K|A1CF_uc009xov.3_Missense_Mutation_p.E71K|A1CF_uc001jji.3_Missense_Mutation_p.E71K|A1CF_uc001jjh.3_Missense_Mutation_p.E79K|A1CF_uc001jjk.1_Missense_Mutation_p.E71K	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	71	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGTATAAGCTCATCCTCAAAA	0.388000														169			51		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36212573	36212573	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36212573C>T	uc021usv.1	+	2	2324	c.2324C>T	c.(2323-2325)gCc>gTc	p.A775V	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	898	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTGGAAAAAGCCCGGATTGCG	0.607000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				25			6		0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73679476	73679476	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:73679476C>T	uc001ouo.3	+	5	1444	c.693C>T	c.(691-693)ttC>ttT	p.F231F		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	231					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding	p.L230fs*5(1)		large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					ACAACCTCTTCTTCGTGAACC	0.592000														32			16		0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65968957	65968957	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65968957G>A	uc002api.3	-	23	4577	c.4192C>T	c.(4192-4194)Cgt>Tgt	p.R1398C	DENND4A_uc002aph.3_Missense_Mutation_p.R1355C	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	1355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AGACTGGTACGATCAGAACTT	0.363000														29			8		0	0	1	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103510682	103510682	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:103510682C>T	uc001vpu.2	+	13	2070	c.1948C>T	c.(1948-1950)Ctg>Ttg	p.L650L	BIVM-ERCC5_uc010tjb.2_Silent_p.L196L|BIVM-ERCC5_uc001vpw.3_Silent_p.L196L|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Silent_p.L28L	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	621					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										CTTCAGCAGCCTGCCCCCTGA	0.388000														87			41		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940104	68940104	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:68940104G>A	uc009xpn.1	-	6	1141	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	CTNNA3_uc001jmw.2_Nonsense_Mutation_p.Q340*|CTNNA3_uc001jmx.4_Nonsense_Mutation_p.Q340*|CTNNA3_uc009xpo.1_Nonsense_Mutation_p.Q200*|CTNNA3_uc001jna.2_Nonsense_Mutation_p.Q352*	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	340					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGCAGATCCTGAAGAGCCTGG	0.502000														63			18		0	0	1	0	0
KRT17	3872	broad.mit.edu	37	17	39777260	39777260	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39777260G>A	uc002hxh.2	-	4	1039	c.918C>T	c.(916-918)acC>acT	p.T306T	JUP_uc010wfs.2_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	306	Coil 2.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGGCCTGCATGGTGCGCCGGA	0.597000														28			21		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73472451	73472451	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73472451G>A	uc001jrx.4	+	26	3634	c.3244G>A	c.(3244-3246)Ggc>Agc	p.G1082S	CDH23_uc001jrz.3_Missense_Mutation_p.G1082S|C10orf105_uc001jsa.2_3'UTR|C10orf105_uc001jsb.2_3'UTR|CDH23_uc001jsc.1_5'UTR	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1084	Cadherin 10.				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						GCGACACACGGGCACAGCCAC	0.577000														25			7		0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71851671	71851671	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:71851671G>A	uc001jqm.3	+	3	897	c.438G>A	c.(436-438)ggG>ggA	p.G146G		NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	146	Lys-rich.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						AGAAGGGGGGGAAGAAATCCA	0.587000														56			18		0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138518016	138518016	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:138518016G>A	uc010nbd.1	-	3	410	c.156C>T	c.(154-156)ctC>ctT	p.L52L		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	52					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		GGACAGGAGCGAGCCAGTCTG	0.532000														66			16		0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43530631	43530631	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43530631C>T	uc002ovm.1	-	1	1	c.-106_splice	c.e1-1		PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Splice_Site|PSG11_uc002ovo.1_Splice_Site	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.						female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TGCGCTGAGACTCTTCCCGGT	0.602000														33			5		0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88284438	88284438	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:88284438G>A	uc011lte.2	-	6	847	c.780C>T	c.(778-780)atC>atT	p.I260I	AGTPBP1_uc011ltc.2_Silent_p.I106I|AGTPBP1_uc011ltd.2_Silent_p.I208I|AGTPBP1_uc010mqc.3_Silent_p.I208I	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	208					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ATGGTCCAATGATTTTAAACA	0.348000														90			8		0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134041097	134041097	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:134041097C>T	uc003kzs.3	+	16	2813	c.2521C>T	c.(2521-2523)Caa>Taa	p.Q841*	SEC24A_uc011cxu.2_Nonsense_Mutation_p.Q605*	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	841					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCTGATGTTCAAGCAATTTC	0.353000														134			17		0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846493	72846493	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72846493G>A	uc002jlt.1	-	5	1499	c.1343C>T	c.(1342-1344)cCc>cTc	p.P448L	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.P448L	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	448					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CTTGGTGTAGGGGGCCACGTC	0.622000														119			32		0	0	1	0	0
KCTD18	130535	broad.mit.edu	37	2	201371607	201371607	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:201371607G>A	uc002uvs.3	-	1	650	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	KCTD18_uc002uvt.3_Missense_Mutation_p.R45C|KCTD18_uc002uvu.1_Missense_Mutation_p.R45C	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.	45	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R45H(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AGAGGAAAGCGACCACTGAAC	0.433000														58			27		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89925205	89925205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89925205G>A	uc003kju.3	+	8	1784	c.1688G>A	c.(1687-1689)gGa>gAa	p.G563E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	563					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTCCTGCTGGAGCTGTGGAC	0.403000														57			11		0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47752396	47752396	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:47752396T>C	uc002xud.3	-	5	994	c.583A>G	c.(583-585)Aaa>Gaa	p.K195E	STAU1_uc002xua.3_Missense_Mutation_p.K114E|STAU1_uc002xub.3_Missense_Mutation_p.K114E|STAU1_uc002xuc.3_Missense_Mutation_p.K114E|STAU1_uc002xue.3_Missense_Mutation_p.K114E|STAU1_uc002xuf.3_Missense_Mutation_p.K114E|STAU1_uc002xug.3_Missense_Mutation_p.K195E	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	195	DRBM 2.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AAGTTCCGTTTAAGTGCAATC	0.328000														50			20		0	0	1	0	0
UTP11L	51118	broad.mit.edu	37	1	38484756	38484756	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:38484756T>A	uc001ccn.4	+	4	459	c.368T>A	c.(367-369)cTc>cAc	p.L123H	UTP11L_uc009vvm.3_Missense_Mutation_p.L54H|UTP11L_uc010oil.2_Non-coding_Transcript|UTP11L_uc001cco.4_Missense_Mutation_p.L54H	NM_016037	NP_057121	Q9Y3A2	UTP11_HUMAN	Homo sapiens UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast) (UTP11L), mRNA.	123					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAATCAGAGCTCCATCTGCTG	0.363000														82			25		0	0	1	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42274671	42274671	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:42274671G>A	uc002iga.3	-	2	372	c.281C>T	c.(280-282)gCc>gTc	p.A94V	ATXN7L3_uc010wiv.2_5'Flank|ATXN7L3_uc002ifz.3_Missense_Mutation_p.A94V	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	Homo sapiens ataxin 7-like 3 (ATXN7L3), transcript variant 2, mRNA.	94					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCGGGAGGCGGCAATGCTGCG	0.597000														51			53		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555862	125555862	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:125555862C>T	uc010flu.3	+	18	3546	c.3182C>T	c.(3181-3183)tCt>tTt	p.S1061F	CNTNAP5_uc002tno.3_Missense_Mutation_p.S1060F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1060	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AATTCTTCTTCTCAGGACTTC	0.498000														49			7		0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124896607	124896607	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124896607G>A	uc003ehw.4	-	4	759	c.689C>T	c.(688-690)tCt>tTt	p.S230F	SLC12A8_uc003ehv.4_Missense_Mutation_p.S201F|SLC12A8_uc010hrz.1_Missense_Mutation_p.S66F	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	201					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GTGGGTGAAAGAACCCACCAC	0.522000														24			16		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153054170	153054170	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:153054170G>A	uc011dcy.2	+	5	867	c.840G>A	c.(838-840)tgG>tgA	p.W280*	GRIA1_uc003lva.4_Nonsense_Mutation_p.W270*|GRIA1_uc003luy.4_Nonsense_Mutation_p.W270*|GRIA1_uc003luz.4_Nonsense_Mutation_p.W175*|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Nonsense_Mutation_p.W190*|GRIA1_uc011dcx.2_Nonsense_Mutation_p.W201*|GRIA1_uc011dcz.2_Nonsense_Mutation_p.W280*|GRIA1_uc010jia.1_Nonsense_Mutation_p.W250*	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	270					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGCAGCAGTGGAAGAATAGTG	0.532000														97			43		0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40773171	40773171	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:40773171C>T	uc001cfh.1	-	19	1067	c.955_splice	c.e19-1	p.G319_splice	COL9A2_uc001cfi.1_Splice_Site_p.G138_splice	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	319	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCTGCACTGCCCTGGGATAGA	0.592000														23			10		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060385	46060385	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:46060385C>T	uc003gxb.3	-	7	916	c.764_splice	c.e7-1	p.G255_splice		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	255					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TAACATAATCCCCTGTAAGAA	0.279000														54			22		0	0	1	0	0
NUDT21	11051	broad.mit.edu	37	16	56480599	56480599	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:56480599G>A	uc002eja.3	-	2	467	c.320C>T	c.(319-321)cCt>cTt	p.P107L		NM_007006	NP_008937	O43809	CPSF5_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 21 (NUDT21), mRNA.	107	Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						TTCACCACCAGGTCTGTATAA	0.318000														68			9		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188492	57188492	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:57188492C>T	uc010kzo.3	-	4	901	c.630G>A	c.(628-630)gaG>gaA	p.E210E		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGTAGGACTTCTCCCTAGTAT	0.333000														32			10		0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60708742	60708742	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60708742G>A	uc001nqn.2	-	4	1362	c.1128C>T	c.(1126-1128)ctC>ctT	p.L376L	SLC15A3_uc001nqo.2_Intron	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	376					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CATTGGCCAGGAGGAGCCAGG	0.597000														26			11		0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42563605	42563605	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42563605C>T	uc002osj.1	-	4	618	c.583G>A	c.(583-585)Gac>Aac	p.D195N	GRIK5_uc010eib.1_Missense_Mutation_p.D114N	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	195						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TCCCGGCTGTCGTCCAACATC	0.607000														71			36		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458426	142458426	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142458426G>A	uc003wak.2	+	1	78	c.61G>A	c.(61-63)Gat>Aat	p.D21N	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Intron|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	21					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CTTTGATGATGATGACAAGAT	0.532000														257			53		0	0	1	0	0
NANOG	79923	broad.mit.edu	37	12	7945794	7945794	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7945794C>T	uc009zfy.1	+	1	616	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	134					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CATCCTGAACCTCAGCTACAA	0.438000														42			4		0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92647599	92647599	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:92647599C>G	uc002bqx.2	+	3	1037	c.836C>G	c.(835-837)tCc>tGc	p.S279C	SLCO3A1_uc002bqy.2_Missense_Mutation_p.S279C|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.S221C	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	279					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TTCTTCTCTTCCCTCTTGATG	0.587000														233			13		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149493797	149493797	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149493797G>A	uc010lpk.3	+	44	6784	c.6784G>A	c.(6784-6786)Gag>Aag	p.E2262K		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2265	LDL-receptor class A 8.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGCTCGGATGAGGAGGGCTG	0.642000														13			4		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82835853	82835853	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:82835853C>T	uc003kii.3	+	7	7387	c.7031C>T	c.(7030-7032)cCc>cTc	p.P2344L	VCAN_uc003kij.3_Missense_Mutation_p.P1357L|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P1008L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2344	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCAGAAGGACCCACGGTGGCA	0.468000														82			21		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56403666	56403666	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56403666C>T	uc002ivx.4	-	2	1429	c.558G>A	c.(556-558)acG>acA	p.T186T	BZRAP1_uc010dcs.3_Silent_p.T186T|BZRAP1_uc010wnt.2_Silent_p.T186T|LOC100506779_uc021uan.1_Intron|LOC100506779_uc010dct.2_5'Flank|LOC100506779_uc010dcu.2_5'Flank	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	186						mitochondrion	benzodiazepine receptor binding	p.T186T(3)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCTCAGGTTCGTTTCCTGCA	0.632000														51			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179666962	179666962	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179666962C>T	uc021vsy.1	-	2	423	c.198G>A	c.(196-198)acG>acA	p.T66T	TTN_uc021vsz.1_Silent_p.T66T|TTN_uc021vta.1_Silent_p.T66T|TTN_uc021vtb.1_Silent_p.T66T|TTN_uc002unb.2_Silent_p.T66T|TTN_uc002und.3_Silent_p.T66T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	66	Ig-like 1.						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)			CGGCGGGGATCGTCAGTTTAG	0.542000														84			31		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003043	122003043	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122003043C>T	uc003eew.4	+	6	2710	c.2272C>T	c.(2272-2274)Ccg>Tcg	p.P758S	CASR_uc003eev.4_Missense_Mutation_p.P748S	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	748					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)	CACCGCGCCCCCGTCAAGCTA	0.592000														49			23		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89953918	89953918	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89953918C>T	uc003kju.3	+	20	4671	c.4575C>T	c.(4573-4575)ttC>ttT	p.F1525F	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1525	Calx-beta 10.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACAAATCATTCATTATTTCTG	0.358000														94			36		0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100933186	100933186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:100933186G>A	uc001pgh.2	-	3	2947	c.2204C>T	c.(2203-2205)tCa>tTa	p.S735L	PGR_uc001pgg.2_Missense_Mutation_p.S116L|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	735	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	ACCTGGCAATGATTTAGACCA	0.328000														112			28		0	0	1	0	0
LHX2	9355	broad.mit.edu	37	9	126794844	126794845	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:126794844_126794845CC>TT	uc010mwi.1	+	4	1842_1843	c.1103_1104CC>TT	c.(1102-1104)ccc>cTT	p.P368L	LHX2_uc004boe.1_Missense_Mutation_p.P360L	NM_004789	NP_004780	P50458	LHX2_HUMAN	Homo sapiens LIM homeobox 2 (LHX2), mRNA.	360						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						TCGCTCAGCCCCTCCAGCACGC	0.658000														37			15		0	0	1	0	0
FAM74A3	728495	broad.mit.edu	37	9	40715848	40715848	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:40715848G>A	uc010mmk.2	+	0		c.325G>A								Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACCCAGAGAAGATGTGGAGGG	0.567000														3			3		0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99670140	99670140	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:99670140C>T	uc002bup.3	+	4	1692	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F	SYNM_uc002buo.3_Silent_p.F524F|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	525	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGAAAATGTTCGATTCTAAAG	0.448000														21			21		0	0	1	0	0
SMAD7	4092	broad.mit.edu	37	18	46447850	46447850	+	Silent	SNP	C	T	T	rs34151545	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:46447850C>T	uc002ldg.3	-	3	1460	c.1173G>A	c.(1171-1173)acG>acA	p.T391T	SMAD7_uc002ldf.3_Silent_p.T203T|SMAD7_uc010xde.2_Silent_p.T176T|SMAD7_uc021ujr.1_Silent_p.T390T	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	391	MH2.				BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					CGGTAAAGCCCGTCCACGGCT	0.577000														30			13		0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163031436	163031436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:163031436C>T	uc002ucd.3	-	21	2118	c.1910G>A	c.(1909-1911)gGa>gAa	p.G637E	FAP_uc010fpc.3_Missense_Mutation_p.G186E|FAP_uc010zct.2_Missense_Mutation_p.G612E	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	637					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AAGACCAGTTCCAGATGCAAG	0.408000														39			21		0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23517527	23517527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23517527C>T	uc001wil.3	-	12	2382	c.2122G>A	c.(2122-2124)Ggg>Agg	p.G708R	CDH24_uc010akf.3_Missense_Mutation_p.G670R	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	708					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		ggggccgccccgTCCGGGTTC	0.761000														87			45		0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150489234	150489234	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150489234G>A	uc022apx.1	-	4	756	c.630C>T	c.(628-630)ttC>ttT	p.F210F	TMEM176B_uc003whu.4_Silent_p.F210F|TMEM176B_uc003whv.4_Silent_p.F173F|TMEM176B_uc003whw.4_Silent_p.F210F	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	210					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACAGCCAGGAACAGGGCAC	0.522000														61			15		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5013342	5013342	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5013342C>T	uc001lzv.3	+	4	762	c.744C>T	c.(742-744)atC>atT	p.I248I		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	248					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCCAAAGGATCCAGCATTTGT	0.448000														46			24		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169572341	169572341	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169572341C>T	uc001ggi.4	-	9	1693	c.1628G>A	c.(1627-1629)gGa>gAa	p.G543E	SELP_uc001ggh.3_Missense_Mutation_p.G378E|SELP_uc009wvr.3_Missense_Mutation_p.G543E	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	543	Sushi 6.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAAAGAATATCCCTCGTCACA	0.473000														84			42		0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56823451	56823451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:56823451C>T	uc003hbi.3	+	4	769	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S	CEP135_uc003hbh.1_Missense_Mutation_p.P179S|CEP135_uc010igz.1_Missense_Mutation_p.P9S	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	179					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding			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)					ACCGGTTCCTCCCTCTGAAGT	0.408000														151			32		0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232127033	232127033	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:232127033C>T	uc002vrq.4	+	11	1153	c.1041C>T	c.(1039-1041)tcC>tcT	p.S347S	ARMC9_uc002vrp.4_Silent_p.S347S|ARMC9_uc002vrr.1_Non-coding_Transcript	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	347							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGACCACATCCCATCCTGGAG	0.478000														115			32		0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100692463	100692463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:100692463G>A	uc004axy.3	-	2	1322	c.1214C>T	c.(1213-1215)cCt>cTt	p.P405L	HEMGN_uc004axz.3_Missense_Mutation_p.P405L	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	405					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GAGGTCTTCAGGCCCCGGTGT	0.433000														206			101		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34129178	34129178	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34129178C>T	uc001zhi.3	+	87	11710	c.11640C>T	c.(11638-11640)tcC>tcT	p.S3880S	RYR3_uc010bar.3_Silent_p.S3875S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3880					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGCTTCTGTCCCTCCTGGAAG	0.483000														15			11		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171546720	171546720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171546720C>T	uc010pmg.2	+	25	7363	c.7097C>T	c.(7096-7098)tCc>tTc	p.S2366F	PRRC2C_uc010pmh.2_Missense_Mutation_p.S1278F|PRRC2C_uc010pmi.2_Missense_Mutation_p.S203F|PRRC2C_uc010pmj.2_5'Flank	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	2366	Gln-rich.						protein C-terminus binding										TGTATGCCTTCCCTTATTGCC	0.413000														33			12		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49663135	49663135	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:49663135G>A	uc001jgu.3	-	5	1047	c.750C>T	c.(748-750)taC>taT	p.Y250Y	ARHGAP22_uc001jgs.3_Silent_p.Y144Y|ARHGAP22_uc001jgt.3_Silent_p.Y234Y|ARHGAP22_uc010qgl.2_Silent_p.Y191Y|ARHGAP22_uc010qgm.2_Silent_p.Y240Y|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	234	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTCCCGCAGGTACAGCTTCA	0.662000														24			7		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48267725	48267725	+	Missense_Mutation	SNP	G	A	A	rs145307365		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48267725G>A	uc002iqm.3	-	34	2540	c.2414C>T	c.(2413-2415)cCt>cTt	p.P805L		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	805	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGGGGGACCAGGCTCACCACG	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							79			6		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588639	20588639	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:20588639C>T	uc001ytg.3	-	26	4131	c.3422G>A	c.(3421-3423)aGa>aAa	p.R1141K	HERC2P3_uc010tyx.1_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GTTCATTCTTCTTATAAATAA	0.413000														56			21		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11189841	11189841	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11189841G>A	uc001asd.3	-	39	5789	c.5668C>T	c.(5668-5670)Cgt>Tgt	p.R1890C	MTOR_uc001asc.3_Missense_Mutation_p.R95C	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1890	FAT.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GAGATGGAACGGAAGAAGCCC	0.522000														55			10		0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67293003	67293003	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:67293003C>T	uc004dww.4	-	19	2119	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	OPHN1_uc011mpg.2_Missense_Mutation_p.E609K	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	609					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CCTTCGCTTTCATCCAGGGAA	0.483000														2			9		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186670720	186670720	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:186670720G>A	uc002upl.3	+	16	16954	c.16954G>A	c.(16954-16956)Gaa>Aaa	p.E5652K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TAATAATAATGAAATTGAGAA	0.269000														68			29		0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40719431	40719431	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40719431C>T	uc002ona.3	+	8	2133	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	615					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CAGAGGAGTTCGCGGAGGCAG	0.706000														37			8		0	0	1	0	0
FOXO1	2308	broad.mit.edu	37	13	41134284	41134284	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:41134284A>C	uc001uxl.4	-	1	1729	c.1344T>G	c.(1342-1344)agT>agG	p.S448R	FOXO1_uc010acc.1_Missense_Mutation_p.S263R	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	Homo sapiens forkhead box O1 (FOXO1), mRNA.	448					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TACCTCCATAACTCGACTTAT	0.453000														51			26		0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5355600	5355600	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:5355600G>A	uc003soi.4	-	24	7198	c.6849C>T	c.(6847-6849)gaC>gaT	p.D2283D		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	2283							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTATCTTATAGTCAGGGGGCA	0.612000														22			6		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187535466	187535466	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187535466G>A	uc003izf.3	-	11	9296	c.9108C>T	c.(9106-9108)gtC>gtT	p.V3036V		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3036	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCCAGGAAGGACGTCTTCAG	0.388000										HNSCC(5;0.00058)				58			28		0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45384947	45384947	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:45384947G>A	uc002ilj.3	+	13	2265	c.2245G>A	c.(2245-2247)Gac>Aac	p.D749N	ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	749					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CACCATCCACGACCGAAAAGA	0.537000														27			18		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125836936	125836936	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:125836936G>A	uc003eim.1	-	16	2084	c.1894C>T	c.(1894-1896)Ctg>Ttg	p.L632L	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.L531L|ALDH1L1_uc003ein.1_5'Flank	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	632	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.S631F(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGGCCGACCAGGGAGCCTGTG	0.627000														34			4		0	0	1	0	0
ELOVL6	79071	broad.mit.edu	37	4	110972698	110972698	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:110972698G>A	uc003hzz.3	-	4	720	c.594C>T	c.(592-594)atC>atT	p.I198I	ELOVL6_uc003iaa.3_Silent_p.I198I	NM_001130721	NP_076995	Q9H5J4	ELOV6_HUMAN	Homo sapiens ELOVL fatty acid elongase 6 (ELOVL6), transcript variant 2, mRNA.	198					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		GGGACAAGGTGATGAACATGG	0.517000														63			31		0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171310668	171310668	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171310668G>A	uc001gho.3	+	9	1584	c.1367G>A	c.(1366-1368)aGa>aAa	p.R456K		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	456					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AAGGATCCCAGACTAGCTTGG	0.498000														75			12		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39564382	39564382	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39564382C>T	uc003xni.3	+	17	2031	c.1976C>T	c.(1975-1977)tCc>tTc	p.S659F	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.S635F	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	659					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CAGTTTGGTTCCCCAGGGGGT	0.318000														64			10		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140741049	140741049	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140741049C>T	uc003ljs.2	+	0	1347	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Silent_p.A449A|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	451	Cadherin 4.				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)			ACGATAATGCCCCAGTTTTCC	0.552000														123			46		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45059290	45059290	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:45059290C>T	uc010skz.1	-	13	1696	c.1571G>A	c.(1570-1572)aGa>aAa	p.R524K	NELL2_uc001rof.3_Missense_Mutation_p.R473K|NELL2_uc001rog.2_Missense_Mutation_p.R474K|NELL2_uc001roh.2_Missense_Mutation_p.R474K|NELL2_uc009zkd.2_Missense_Mutation_p.R473K|NELL2_uc010sla.1_Missense_Mutation_p.R497K|NELL2_uc001roi.1_Missense_Mutation_p.R474K|NELL2_uc010slb.1_Missense_Mutation_p.R473K|NELL2_uc001roj.2_Missense_Mutation_p.R474K	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	474	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)		ATCATCAATTCTGATGTATCC	0.348000														38			25		0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10697863	10697863	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:10697863C>T	uc002kos.2	-	40	6545	c.6371G>A	c.(6370-6372)cGa>cAa	p.R2124Q	PIEZO2_uc002koq.3_5'UTR	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2124	Ser-rich.					integral to membrane	ion channel activity										ACTGCTGTTTCGGGTGCTTGT	0.403000														33			4		0	0	1	0	0
PHF7	51533	broad.mit.edu	37	3	52457136	52457136	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52457136C>T	uc003ddy.3	+	10	1755	c.949C>T	c.(949-951)Cct>Tct	p.P317S	PHF7_uc003ddz.3_Missense_Mutation_p.P278S	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA.	317						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		AGGGGACATCCCTTGCTGCAG	0.527000														87			38		0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183995769	183995769	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183995769C>T	uc003fni.4	+	4	927	c.889C>T	c.(889-891)Cta>Tta	p.L297L	ECE2_uc011brg.1_Silent_p.L225L|ECE2_uc011brh.1_Silent_p.L150L|ECE2_uc003fnl.4_Silent_p.L225L|ECE2_uc003fnm.4_Silent_p.L179L|ECE2_uc003fnk.4_Silent_p.L150L|ECE2_uc011bri.1_Silent_p.L212L|ECE2_uc010hxv.3_5'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	297	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCGCTTCTACCTATCTTGCCT	0.557000														63			28		0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57868278	57868278	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57868278C>T	uc010etw.3	+	3	1570	c.1182C>T	c.(1180-1182)agC>agT	p.S394S	ZNF304_uc010ygw.2_Silent_p.S347S|ZNF304_uc010etx.3_Silent_p.S305S	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ACAGCAGAAGCTCCCACCTTG	0.473000														78			31		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13794063	13794063	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13794063G>A	uc003jfd.2	-	47	8034	c.7992C>T	c.(7990-7992)atC>atT	p.I2664I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2664	AAA 3 (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)					CCCACTCATTGATTATTGGCA	0.323000									Kartagener syndrome					58			31		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50217868	50217868	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:50217868G>A	uc002xwg.1	-	27	3026	c.3026C>T	c.(3025-3027)aCc>aTc	p.T1009I	ATP9A_uc010gih.1_Missense_Mutation_p.T873I|ATP9A_uc002xwf.1_Missense_Mutation_p.T181I	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	1009					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAATGACAAGGTGGCGATGAA	0.547000														31			13		0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16339673	16339673	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:16339673G>A	uc021whl.1	-	0	841	c.841C>T	c.(841-843)Cga>Tga	p.R281*	NRIP1_uc002yjx.2_Nonsense_Mutation_p.R281*	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	281	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GCGTGTTCTCGAGAATACTGC	0.458000														101			33		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248031355	248031355	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248031355G>A	uc001ido.3	+	4	909	c.861G>A	c.(859-861)agG>agA	p.R287R	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	287	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGCTCTTAAGGAAGTTCCAAG	0.507000														15			3		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9389741	9389741	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9389741G>A	uc021wam.1	+	19	1891	c.1876G>A	c.(1876-1878)Gga>Aga	p.G626R	PLCB4_uc010gbw.1_Missense_Mutation_p.G626R|PLCB4_uc010gbx.3_Missense_Mutation_p.G638R|PLCB4_uc021wal.1_Missense_Mutation_p.G626R|PLCB4_uc002wnh.3_Missense_Mutation_p.G473R	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	626	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTACCCCAAGGGAGGCCGAGT	0.423000														31			11		0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4069751	4069751	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:4069751C>T	uc003mvx.3	-	6	1112	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Missense_Mutation_p.E173K	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.	236																	GTGAAAGGTTCCTCAACATTT	0.378000														114			47		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858500	9858500	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:9858500C>T	uc010uym.2	-	13	3211	c.2901G>A	c.(2899-2901)gtG>gtA	p.V967V	GRIN2A_uc002czo.4_Silent_p.V967V|GRIN2A_uc010uyn.2_Silent_p.V810V|GRIN2A_uc002czr.4_Silent_p.V967V	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	967					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCGGTTGGCCACAAATGTTT	0.458000														79			40		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26655803	26655803	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:26655803C>T	uc001mqt.4	+	18	2071	c.1926C>T	c.(1924-1926)ttC>ttT	p.F642F	ANO3_uc010rdr.2_Silent_p.F626F|ANO3_uc010rds.2_Silent_p.F481F|ANO3_uc010rdt.2_Silent_p.F496F	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	642						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGAAGATGTTCCTCTTCCAGT	0.393000														57			7		0	0	1	0	0
CHCHD5	84269	broad.mit.edu	37	2	113343825	113343825	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113343825C>T	uc002tia.2	+	2	381	c.192C>T	c.(190-192)gcC>gcT	p.A64A	CHCHD5_uc002thz.1_Silent_p.A64A			Q9BSY4	CHCH5_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 5 (CHCHD5), mRNA.	64	CHCH.							p.A64V(1)		NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						CTTTTGAGGCCTTCGAGGAGT	0.637000														54			19		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76414572	76414572	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:76414572C>T	uc021rkq.1	+	21	3858	c.3523C>T	c.(3523-3525)Caa>Taa	p.Q1175*	LMO7_uc010thv.2_Nonsense_Mutation_p.Q893*|LMO7_uc001vjt.1_Nonsense_Mutation_p.Q841*|LMO7_uc001vjv.3_Nonsense_Mutation_p.Q942*|LMO7_uc010thw.2_Nonsense_Mutation_p.Q819*|LMO7_uc001vjw.1_Nonsense_Mutation_p.Q848*	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1227						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.E1175*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GGTGTGGGATCAAGAGGAGGA	0.527000														32			14		0	0	1	0	0
KIAA0146	23514	broad.mit.edu	37	8	48625280	48625280	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:48625280C>T	uc003xqd.3	+	14	2096	c.2034C>T	c.(2032-2034)gtC>gtT	p.V678V	KIAA0146_uc011ldb.2_Silent_p.V678V|KIAA0146_uc010lxs.3_Silent_p.V153V|KIAA0146_uc011ldc.2_Silent_p.V608V|KIAA0146_uc011ldd.2_Silent_p.V618V|KIAA0146_uc003xqe.3_Silent_p.V153V|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Silent_p.V367V|KIAA0146_uc010lxt.3_Silent_p.V367V|KIAA0146_uc011ldf.2_Silent_p.V183V|KIAA0146_uc011ldg.2_Silent_p.V168V|KIAA0146_uc003xqg.1_5'Flank	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	678										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				TGACCGATGTCACTCTGCAAA	0.498000														111			11		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165179979	165179979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:165179979C>T	uc001gcz.2	-	5	898	c.704G>A	c.(703-705)aGt>aAt	p.S235N	LMX1A_uc021pdz.1_Missense_Mutation_p.S235N|LMX1A_uc021pdy.1_5'UTR|LMX1A_uc001gcw.2_5'UTR	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	235						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GACACGGACACTCAGCCCTGT	0.483000														44			7		0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919877	142919877	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142919877G>A	uc011ksx.2	+	0	706	c.706G>A	c.(706-708)Gac>Aac	p.D236N		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	236					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.R235R(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					AGGGTCCAGGGACCCCAGCAT	0.507000														167			12		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47682051	47682051	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:47682051G>A	uc003oyz.1	+	6	1241	c.1241G>A	c.(1240-1242)aGg>aAg	p.R414K	GPR115_uc003oza.1_Missense_Mutation_p.R357K|GPR115_uc003ozb.1_Missense_Mutation_p.R357K|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	357					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TCCAAGAAAAGGAGATGGGAT	0.448000														65			21		0	0	1	0	0
ALKBH1	8846	broad.mit.edu	37	14	78142163	78142163	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:78142163G>A	uc001xuc.1	-	4	585	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA.	192					DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GGTCAGAAGGGAAAGGTGTGT	0.418000														60			18		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38858758	38858758	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38858758C>T	uc002oih.4	+	25	3088	c.3001C>T	c.(3001-3003)Cac>Tac	p.H1001Y	CATSPERG_uc002oig.4_Missense_Mutation_p.H961Y|CATSPERG_uc002oif.4_Missense_Mutation_p.H641Y|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	1001					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CATCATGTCCCACGAGAGCCC	0.602000														85			40		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99827539	99827539	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:99827539G>A	uc001pga.3	+	8	1178	c.674_splice	c.e8-1	p.E225_splice	CNTN5_uc009ywv.2_Splice_Site_p.E225_splice|CNTN5_uc001pfz.3_Splice_Site_p.E225_splice|CNTN5_uc021qpb.1_Splice_Site_p.E225_splice|CNTN5_uc021qpc.1_Splice_Site_p.E151_splice	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	225	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TATTTTCAGAGATCATCTATA	0.383000														42			15		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280433	152280433	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152280433G>A	uc001ezu.1	-	2	6965	c.6929C>T	c.(6928-6930)tCc>tTc	p.S2310F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2310	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCACCAGAGGAATTCTCTGC	0.567000									Ichthyosis					480			167		0	0	1	0	0
ALKBH3	221120	broad.mit.edu	37	11	43923211	43923211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:43923211C>T	uc001mxs.2	+	7	1048	c.605C>T	c.(604-606)cCc>cTc	p.P202L	ALKBH3_uc009ykp.2_Non-coding_Transcript|ALKBH3_uc001mxt.2_Non-coding_Transcript	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN	Homo sapiens alkB, alkylation repair homolog 3 (E. coli) (ALKBH3), mRNA.	202	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	DNA-N1-methyladenine dioxygenase activity|L-ascorbic acid binding|damaged DNA binding|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	GGGAGGTGCCCCATTATTGCT	0.478000								Direct reversal of damage						46			33		0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53560056	53560056	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:53560056G>A	uc001xai.3	-	2	1349	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	DDHD1_uc001xaj.3_Silent_p.T380T|DDHD1_uc001xah.3_Silent_p.T373T|DDHD1_uc001xag.3_5'UTR	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	373					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CCAGTTTTTGGGTAACTGTTC	0.323000														49			8		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21153424	21153424	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:21153424A>T	uc002kum.4	-	1	446	c.172T>A	c.(172-174)Tta>Ata	p.L58I	NPC1_uc010xba.1_Intron	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	58					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACCTGCACTAAGTCATATCCA	0.423000														141			58		0	0	1	0	0
C9	735	broad.mit.edu	37	5	39316095	39316095	+	Missense_Mutation	SNP	C	T	T	rs148389506		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:39316095C>T	uc003jlv.4	-	5	741	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	218	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)			ATTTGTTCTTCGTAATGTTCG	0.303000														43			15		0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53070861	53070861	+	Silent	SNP	G	A	A	rs137978741		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53070861G>A	uc001sau.1	-	5	1295	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	KRT1_uc001sav.1_Silent_p.I412I	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	412	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TGACATTGTCGATTTCAGATC	0.453000														43			38		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567106	45567106	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:45567106C>T	uc010dnv.3	-	2	875	c.439G>A	c.(439-441)Gag>Aag	p.E147K	ZBTB7C_uc002ldb.3_Missense_Mutation_p.E125K|ZBTB7C_uc010dnu.3_Missense_Mutation_p.E134K|ZBTB7C_uc010dnw.3_Missense_Mutation_p.E125K|ZBTB7C_uc010dnx.1_Missense_Mutation_p.E125K|ZBTB7C_uc010dny.1_Missense_Mutation_p.E125K|ZBTB7C_uc010dnz.1_Missense_Mutation_p.E147K|ZBTB7C_uc010doi.1_Missense_Mutation_p.E125K|ZBTB7C_uc010doj.1_Missense_Mutation_p.E134K|ZBTB7C_uc010dok.1_Missense_Mutation_p.E174K|ZBTB7C_uc010dol.1_Missense_Mutation_p.E134K|ZBTB7C_uc010doa.1_Missense_Mutation_p.E147K|ZBTB7C_uc010dob.1_Missense_Mutation_p.E125K|ZBTB7C_uc010doc.1_Missense_Mutation_p.E134K|ZBTB7C_uc010dod.1_Missense_Mutation_p.E147K|ZBTB7C_uc010doe.1_Missense_Mutation_p.E125K|ZBTB7C_uc010dof.1_Missense_Mutation_p.E125K|ZBTB7C_uc010dog.1_Missense_Mutation_p.E125K|ZBTB7C_uc010doh.1_Missense_Mutation_p.E134K|ZBTB7C_uc010dom.1_Missense_Mutation_p.E134K|ZBTB7C_uc010don.1_Missense_Mutation_p.E133K|ZBTB7C_uc010dop.1_Missense_Mutation_p.E125K|ZBTB7C_uc010doq.1_Missense_Mutation_p.E134K|ZBTB7C_uc010dor.1_Missense_Mutation_p.E147K|ZBTB7C_uc010dos.1_Missense_Mutation_p.E125K|ZBTB7C_uc010dot.1_Missense_Mutation_p.E125K|ZBTB7C_uc010doo.1_Missense_Mutation_p.E125K|ZBTB7C_uc010dou.1_Missense_Mutation_p.E134K	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	125	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TCCATGATCTCCAGGCACACG	0.592000														33			4		0	0	1	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99631479	99631479	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99631479C>T	uc003usk.1	+	5	1570	c.1351C>T	c.(1351-1353)Cat>Tat	p.H451Y	ZKSCAN1_uc003usl.1_Missense_Mutation_p.H415Y|ZKSCAN1_uc003usm.1_Missense_Mutation_p.H238Y	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	451					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TCTCATCCTCCATCAGCGCAT	0.512000														202			81		0	0	1	0	0
PRODH	5625	broad.mit.edu	37	22	18909852	18909852	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:18909852G>A	uc002zok.4	-	7	1119	c.915C>T	c.(913-915)acC>acT	p.T305T	PRODH_uc002zoj.4_Silent_p.T195T|PRODH_uc002zol.4_Silent_p.T197T	NM_016335	NP_057419	O43272	PROD_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 1 (PRODH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	305					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	ACACTCCCAGGGTCTCTGCCG	0.602000														31			7		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164589	26164589	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26164589G>A	uc003abz.1	+	3	956	c.706G>A	c.(706-708)Gag>Aag	p.E236K	MYO18B_uc003aca.1_Missense_Mutation_p.E117K|MYO18B_uc010guy.1_Missense_Mutation_p.E117K|MYO18B_uc010guz.1_Missense_Mutation_p.E117K|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	236						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						AAAAGGCGAGGAGGGTCAAAG	0.627000														11			7		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47500966	47500966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:47500966C>T	uc002leb.2	-	9	1364	c.1076G>A	c.(1075-1077)aGc>aAc	p.S359N	MYO5B_uc021ukb.1_Missense_Mutation_p.S358N	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	359	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCAGAAGTTGCTTAGGTATAC	0.592000														95			41		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89968486	89968486	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89968486G>A	uc003kju.3	+	21	4972	c.4876G>A	c.(4876-4878)Gac>Aac	p.D1626N	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1626	Calx-beta 11.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTTGTTGATGACTTTGCTAA	0.403000														79			38		0	0	1	0	0
TRIM72	493829	broad.mit.edu	37	16	31230642	31230642	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31230642G>A	uc002ebn.2	+	3	803	c.519G>A	c.(517-519)ggG>ggA	p.G173G	PYDC1_uc002ebo.3_5'Flank|PYDC1_uc021tgv.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.	173					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GGGCCGTGGGGGAGCAGCTGG	0.667000														86			20		0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	31498133	31498133	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:31498133C>T	uc003xip.3	+	0	866	c.633C>T	c.(631-633)ccC>ccT	p.P211P	NRG1_uc022ats.1_Intron	NM_013962	NP_039256	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant GGF2, mRNA.	594	EGF-like.				Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCATGGAGCCCGACGCCAACA	0.687000														44			8		0	0	1	0	0
YIF1B	90522	broad.mit.edu	37	19	38799639	38799639	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38799639G>A	uc002ohz.2	-	3	510	c.461C>T	c.(460-462)gCc>gTc	p.A154V	YIF1B_uc002ohw.2_Missense_Mutation_p.A123V|YIF1B_uc002ohx.2_Missense_Mutation_p.A139V|YIF1B_uc010xtx.1_Missense_Mutation_p.A137V|YIF1B_uc010xty.1_Missense_Mutation_p.A123V|YIF1B_uc002oia.2_Missense_Mutation_p.A151V|YIF1B_uc002ohy.2_Missense_Mutation_p.A151V|YIF1B_uc002oib.3_Missense_Mutation_p.A151V	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Homo sapiens Yip1 interacting factor homolog B (S. cerevisiae) (YIF1B), transcript variant 5, mRNA.	154						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAGGTCCGGGGCATTGACGTC	0.657000														12			4		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43332482	43332482	+	Silent	SNP	C	T	T	rs148517689		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43332482C>T	uc002yzw.3	-	6	1154	c.912G>A	c.(910-912)acG>acA	p.T304T	C2CD2_uc002yzu.3_Silent_p.T136T|C2CD2_uc002yzv.3_Silent_p.T149T|C2CD2_uc002yzx.1_Silent_p.T149T	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	304	C2.					cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GAGTGTTTTTCGTCAGGGTGC	0.542000														22			3		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234855777	234855777	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234855777G>A	uc002vvh.3	+	7	960	c.920G>A	c.(919-921)gGa>gAa	p.G307E	TRPM8_uc010fyj.3_5'UTR	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	307						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TTTGCCCAAGGAGGTGGAAAA	0.368000														50			21		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156834	155156834	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155156834G>A	uc003inw.2	-	24	7605	c.7605C>T	c.(7603-7605)ttC>ttT	p.F2535F		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2535					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F2535F(2)|p.F2535C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGCTGCTGGCGAACACTGCCA	0.388000														69			29		0	0	1	0	0
PPA2	27068	broad.mit.edu	37	4	106345444	106345444	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:106345444G>A	uc003hxl.3	-	6	584	c.564C>T	c.(562-564)atC>atT	p.I188I	PPA2_uc003hxn.3_Silent_p.I159I|PPA2_uc003hxo.3_Silent_p.I86I|PPA2_uc003hxp.3_Intron|PPA2_uc003hxq.3_Silent_p.I95I|PPA2_uc011cfa.1_Silent_p.I95I	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	Homo sapiens pyrophosphatase (inorganic) 2 (PPA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	188					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		AAATTCCAAGGATCTTCACAT	0.338000														83			35		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50781389	50781389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50781389C>T	uc010enu.1	+	29	3922	c.3875C>T	c.(3874-3876)tCc>tTc	p.S1292F	MYH14_uc002prq.1_Missense_Mutation_p.S1259F|MYH14_uc002prr.1_Missense_Mutation_p.S1251F|MYH14_uc010ycb.2_5'UTR	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1251					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCCGAGGTGTCCGAGCTGCGG	0.647000														29			6		0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54955914	54955914	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:54955914C>T	uc004dtq.3	+	11	2864	c.2757C>T	c.(2755-2757)ttC>ttT	p.F919F	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Silent_p.F450F|TRO_uc004dtw.3_Silent_p.F522F|TRO_uc004dtx.3_Silent_p.F302F	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	919	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GTATCTGCTTCGGTGGCTCTC	0.552000														22			16		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20448675	20448675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20448675C>T	uc002dhe.3	+	11	1669	c.1522C>T	c.(1522-1524)Ccc>Tcc	p.P508S		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	508					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CAGCCCAGACCCCATCAGGGG	0.572000														46			9		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24197023	24197023	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24197023G>A	uc003xdy.3	+	14	1695	c.1612G>A	c.(1612-1614)Ggg>Agg	p.G538R	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.G225R	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	538	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GAATGAAGGTGGGTCAAAGTA	0.458000														24			3		0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143055978	143055978	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143055978C>T	uc010lpa.3	-	4	552	c.408G>A	c.(406-408)agG>agA	p.R136R	FAM131B_uc010loz.3_Silent_p.R76R|FAM131B_uc003wct.3_Silent_p.R108R|FAM131B_uc003wcu.4_Silent_p.R108R|ZYX_uc011ktd.2_5'Flank	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	108										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CATCCGTATCCCTGCGCACGG	0.587000														38			12		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56477606	56477606	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56477606G>A	uc002qmh.3	+	4	2312	c.2241G>A	c.(2239-2241)ttG>ttA	p.L747L	NLRP8_uc010etg.3_Silent_p.L747L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	747						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCACCATGTTGAACCAGGACT	0.493000														123			55		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881335	33881335	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:33881335G>A	uc003jia.1	-	1	541	c.378C>T	c.(376-378)ctC>ctT	p.L126L	ADAMTS12_uc010iuq.1_Silent_p.L126L|ADAMTS12_uc003jib.1_Silent_p.L126L	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	126					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L126L(3)|p.L126F(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAACATGGGAGAGGTTCCCAT	0.502000										HNSCC(64;0.19)				86			28		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585343	7585343	+	Silent	SNP	G	A	A	rs148798300		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7585343G>A	uc003mxp.1	+	23	8127	c.7848G>A	c.(7846-7848)tcG>tcA	p.S2616S	DSP_uc003mxq.1_Silent_p.S2017S|DSP_uc021yle.1_Silent_p.S2173S	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2616	Globular 2.				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)		TGGAAGAATCGAGCCCCATTG	0.483000														94			46		0	0	1	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132912248	132912248	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:132912248C>T	uc002tti.3	-	3		c.848G>A			ANKRD30BL_uc002ttj.3_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B-like (ANKRD30BL), transcript variant 1, non-coding RNA.											endometrium(1)|kidney(3)	4						TTAAACTTATCAACTGCATTT	0.308000														17			3		0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141888811	141888811	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:141888811C>T	uc003iio.1	-	1	1355	c.701G>A	c.(700-702)aGg>aAg	p.R234K	RNF150_uc010iok.1_Intron|RNF150_uc003iip.1_Missense_Mutation_p.R234K	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	234						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					ATATCGAAACCTCTGGATGTA	0.378000														66			30		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113920	94113920	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:94113920G>A	uc001pet.2	-	3	839	c.667C>T	c.(667-669)Ctc>Ttc	p.L223F		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	223						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGCAGGCAGAGGGAGCGCACA	0.557000														40			13		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284448	159284448	+	Splice_Site	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159284448A>C	uc010piu.2	-	1	1	c.1_splice	c.e1-1	p.M1_splice		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TAGCTTTGGCATCAAGGTAGG	0.423000														173			40		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902356	51902356	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:51902356G>A	uc002iua.2	+	0	2118	c.1962G>A	c.(1960-1962)gaG>gaA	p.E654E	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	654					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTCTGACCGAGATCCAAAAGA	0.448000														50			12		0	0	1	0	0
PAK4	10298	broad.mit.edu	37	19	39660289	39660289	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39660289C>T	uc002okj.1	+	3	557	c.96C>T	c.(94-96)ttC>ttT	p.F32F	PAK4_uc002okl.1_Silent_p.F32F|PAK4_uc002okn.1_Silent_p.F32F|PAK4_uc002okm.1_Silent_p.F32F|PAK4_uc002oko.1_Silent_p.F32F|PAK4_uc002okp.1_Silent_p.F32F	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	32	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			AGCAGAAGTTCACGGGGCTGC	0.677000														61			20		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112162920	112162920	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:112162920G>C	uc003kpz.4	+	12	1717	c.1524G>C	c.(1522-1524)ttG>ttC	p.L508F	APC_uc011cvt.2_Missense_Mutation_p.L490F|APC_uc003kpy.4_Missense_Mutation_p.L508F|APC_uc010jbz.3_Missense_Mutation_p.L225F|APC_uc010jca.3_Intron	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	508	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGACAAACTTGACTTTTGGAG	0.333000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				80			8		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209179022	209179022	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:209179022C>T	uc002vcz.3	+	13	1859	c.1701C>T	c.(1699-1701)tcC>tcT	p.S567S	PIKFYVE_uc010fun.1_Silent_p.S248S|PIKFYVE_uc002vcy.1_Silent_p.S511S	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	567					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACTTAGAATCCTTATTTAATC	0.373000														85			30		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81661830	81661830	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81661830C>T	uc001szo.2	-	28	3508	c.3347G>A	c.(3346-3348)tGg>tAg	p.W1116*	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Nonsense_Mutation_p.W1015*|PPFIA2_uc021rbh.1_Nonsense_Mutation_p.W1011*|PPFIA2_uc021rbi.1_Nonsense_Mutation_p.W1110*|PPFIA2_uc021rbj.1_Nonsense_Mutation_p.W1095*|PPFIA2_uc021rbk.1_Nonsense_Mutation_p.W1101*|PPFIA2_uc021rbl.1_Nonsense_Mutation_p.W1116*|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Nonsense_Mutation_p.W652*|PPFIA2_uc021rbf.1_Nonsense_Mutation_p.W302*	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	1015										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGCTTGTATCCAGCGAATAAC	0.373000														7			6		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34111984	34111984	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34111984C>T	uc001zhi.3	+	76	10804	c.10734C>T	c.(10732-10734)acC>acT	p.T3578T	RYR3_uc010bar.3_Silent_p.T3573T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3578					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTTGTACACCTCCTATTCCA	0.353000														331			135		0	0	1	0	0
PDCD10	11235	broad.mit.edu	37	3	167437899	167437899	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:167437899G>A	uc003fez.3	-	1	221	c.47C>T	c.(46-48)tCc>tTc	p.S16F	PDCD10_uc003fex.3_Missense_Mutation_p.S16F|PDCD10_uc003fey.3_Missense_Mutation_p.S16F	NM_145860	NP_665859	Q9BUL8	PDC10_HUMAN	Homo sapiens programmed cell death 10 (PDCD10), transcript variant 3, mRNA.	16					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of MAP kinase activity|positive regulation of cell proliferation	Golgi membrane|cytosol|plasma membrane	protein N-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						AGAAACCATGGATGTGGTCTC	0.398000														76			30		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61844941	61844941	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61844941G>A	uc001jky.3	-	30	4157	c.3819C>T	c.(3817-3819)gtC>gtT	p.V1273V	ANK3_uc001jkw.3_Silent_p.V407V|ANK3_uc009xpa.3_Silent_p.V407V|ANK3_uc001jkx.3_Silent_p.V451V|ANK3_uc010qih.2_Silent_p.V1274V|ANK3_uc001jkz.4_Silent_p.V1267V|ANK3_uc001jla.1_Silent_p.V339V|ANK3_uc001jlb.1_Silent_p.V791V|ANK3_uc001jkv.3_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1273					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						TTGTAAAGGAGACACAATCTT	0.383000														87			28		0	0	1	0	0
MORN1	79906	broad.mit.edu	37	1	2288981	2288982	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:2288981_2288982GG>AA	uc001ajb.1	-	9	946_947	c.925_926CC>TT	c.(925-927)ccc>TTc	p.P309F	MORN1_uc009vld.3_Missense_Mutation_p.P285F|MORN1_uc001ajd.1_Missense_Mutation_p.P309F	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	Homo sapiens MORN repeat containing 1 (MORN1), mRNA.	309										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GGCAGCTCTGGGCCCCGGCACC	0.653000														101			37		0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606458	55606458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55606458C>T	uc010rio.2	+	0	231	c.231C>T	c.(229-231)tcC>tcT	p.S77S		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCTATTCCTCCATCATTGCTC	0.398000														231			90		0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228600	57228600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:57228600C>T	uc010lyk.1	-	1	945	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	SDR16C5_uc003xsy.1_Missense_Mutation_p.E103K|SDR16C5_uc010lyl.1_Missense_Mutation_p.E103K	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	103					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TACACTCCTTCCTTTTGGCTG	0.448000														113			35		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642421	57642421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57642421G>A	uc002qny.3	+	3	2734	c.2378G>A	c.(2377-2379)gGa>gAa	p.G793E	USP29_uc021vci.1_Missense_Mutation_p.G793E	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	793					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			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)		GACAACCCAGGAAACAAAAAC	0.468000														27			6		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232666	21232666	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21232666C>T	uc002red.3	-	25	7202	c.7074G>A	c.(7072-7074)atG>atA	p.M2358I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2358					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTAATTTATCCATTAAAACCT	0.373000														60			14		0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27690811	27690811	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27690811G>A	uc001bny.1	-	3	828	c.579C>T	c.(577-579)ggC>ggT	p.G193G	MAP3K6_uc009vsw.1_Silent_p.G185G|MAP3K6_uc001bnz.1_5'Flank	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	193					activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCCGCAGAAGGCCTGCATCAC	0.662000														94			33		0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18871008	18871008	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:18871008G>A	uc002dfm.3	-	26	4186	c.3823C>T	c.(3823-3825)Cct>Tct	p.P1275S	SMG1_uc010bwb.3_Missense_Mutation_p.P1135S|SMG1_uc010bwa.3_Missense_Mutation_p.P6S	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	1275	FAT.|Interaction with SMG8 and SMG9.		P -> R.		DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AACATGTTAGGAAGCAGTTTT	0.313000														40			21		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130283963	130283963	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130283963G>A	uc010htl.3	+	2	818	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	263	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGACATAAAGGAAAATTGCAT	0.393000														128			35		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64981737	64981737	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:64981737G>A	uc002eoi.3	-	12	2594	c.2160C>T	c.(2158-2160)ttC>ttT	p.F720F	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_3'UTR|CDH11_uc010vin.2_Silent_p.F594F	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	720					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCGTGTTGATGAAGTCATCGA	0.532000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				78			34		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516601	140516601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140516601C>T	uc003liq.3	+	0	1802	c.1585C>T	c.(1585-1587)Cgc>Tgc	p.R529C		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	529	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R529C(2)|p.R529R(2)|p.R529H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGAGTTCCGCGTGGGAGC	0.682000														88			55		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192507	66192507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66192507G>A	uc001ohx.1	+	6	2322	c.2146G>A	c.(2146-2148)Gat>Aat	p.D716N	NPAS4_uc010rpc.1_Missense_Mutation_p.D506N	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	716					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						CATCTTCATGGATCTCTCTAC	0.592000														71			45		0	0	1	0	0
PLEKHB2	55041	broad.mit.edu	37	2	132110663	132110663	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:132110663G>A	uc002tsh.2	+	6	1054	c.494G>A	c.(493-495)cGa>cAa	p.R165Q				Q96CS7	PKHB2_HUMAN	Homo sapiens pleckstrin homology domain containing, family B (evectins) member 2 (PLEKHB2), transcript variant 2, mRNA.	0						membrane	protein binding	p.G164G(1)		large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		CTCCCAACGCGATGTTTTTTT	0.448000														26			13		0	0	1	0	0
RBMY2EP	159125	broad.mit.edu	37	Y	23557655	23557655	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrY:23557655C>T	uc004fun.1	-	3		c.321G>A								Homo sapiens RNA binding motif protein, Y-linked, family 2, member E pseudogene (RBMY2EP), non-coding RNA.																		CCACGGGTTTCGTCGTAGCCA	0.299000														2			6		0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18671986	18671987	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:18671986_18671987CC>TT	uc002gul.3	+	8	2163_2164	c.1931_1932CC>TT	c.(1930-1932)ccc>cTT	p.P644L	FBXW10_uc002guj.3_Missense_Mutation_p.P615L|FBXW10_uc002guk.3_Missense_Mutation_p.P615L|FBXW10_uc010cqh.2_Missense_Mutation_p.P615L	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	615										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TTCAAGCATCCCAAGTAGGTGC	0.569000														16			24		0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934842	113934842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113934842G>A	uc001pop.3	+	1	1084	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	ZBTB16_uc001poo.1_Missense_Mutation_p.E274K|ZBTB16_uc001poq.3_Missense_Mutation_p.E274K	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	274					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	p.E274*(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CAAGGTTGAGGAAAGAGGCAA	0.627000														31			19		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328333	80328333	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:80328333G>A	uc003hlu.3	-	0	1040	c.1022C>T	c.(1021-1023)aCc>aTc	p.T341I		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	341					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GTCTCCTGAGGTCTCTATAAT	0.438000														138			54		0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183774774	183774774	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183774774C>T	uc003fmk.3	+	4	535	c.501C>T	c.(499-501)ttC>ttT	p.F167F		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	167						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGGACATCTTCTACTTCCCTT	0.443000														271			18		0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68903887	68903887	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:68903887G>A	uc001dei.1	-	9	1165	c.1111C>T	c.(1111-1113)Cct>Tct	p.P371S		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	371					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.P371H(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ATATTCAAAGGAAGTACATAT	0.373000														45			20		0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487829	248487829	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248487829G>A	uc010pzk.2	-	0	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			AGATTCCCAGGAGGAGGAAGT	0.453000														303			24		0	0	1	0	0
ING3	54556	broad.mit.edu	37	7	120608053	120608053	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:120608053C>T	uc003vjn.3	+	7	756	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	ING3_uc003vjo.3_5'UTR|ING3_uc003vjp.3_Silent_p.L208L|ING3_uc011kns.2_Silent_p.L193L	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.	208					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					CTCCCAACCTCTGGGATCCTA	0.428000														55			25		0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109249363	109249363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:109249363C>T	uc003pss.4	+	10	1597	c.1423C>T	c.(1423-1425)Ccc>Tcc	p.P475S	ARMC2_uc011eao.2_Missense_Mutation_p.P310S	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	475							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CAGTGCCCTTCCCCAGCTCTG	0.438000														113			19		0	0	1	0	0
KRTAP12-4	386684	broad.mit.edu	37	21	46074281	46074281	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46074281G>A	uc002zfs.1	-	0	296	c.251C>T	c.(250-252)tCc>tTc	p.S84F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198698	NP_941971	P60329	KR124_HUMAN	Homo sapiens keratin associated protein 12-4 (KRTAP12-4), mRNA.	84	15 X 5 AA approximate repeats.					keratin filament				lung(4)|ovary(1)|prostate(1)	6						TGGGCAGAAGGAAGCCACACA	0.647000														43			21		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112693	148112693	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:148112693G>A	uc003weu.2	+	23	4497	c.3981G>A	c.(3979-3981)aaG>aaA	p.K1327K	CNTNAP2_uc003wev.2_Silent_p.K104K	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1327					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAAGCAAAAAGGAATGGCTCA	0.522000										HNSCC(39;0.1)				48			31		0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102851526	102851526	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:102851526G>A	uc002tbs.3	+	10	1593	c.1467G>A	c.(1465-1467)gaG>gaA	p.E489E	IL1RL2_uc002tbt.3_Silent_p.E371E	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	489	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTGAGCTGGAGAAAATCGAGG	0.512000														87			33		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83350314	83350314	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83350314G>A	uc010uoi.2	-	4	556	c.379C>T	c.(379-381)Cgt>Tgt	p.R127C	AP3B2_uc010uoh.2_Missense_Mutation_p.R127C|AP3B2_uc010uoj.2_Missense_Mutation_p.R95C|AP3B2_uc010uog.2_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	127					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCACTGGCACGAATCAGCTGG	0.572000														66			20		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79066542	79066542	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:79066542G>A	uc002bej.4	-	12	2188	c.1977C>T	c.(1975-1977)gcC>gcT	p.A659A	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Silent_p.A659A	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	659	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGTCCCGGCTGGCTCGGACCT	0.662000														13			5		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17474704	17474704	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17474704C>T	uc001mnc.3	-	6	1264	c.1138G>A	c.(1138-1140)Gcc>Acc	p.A380T	ABCC8_uc010rcy.1_Missense_Mutation_p.A379T	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	380	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GTTTCAATGGCCACATAGTAG	0.418000														98			27		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088726	9088726	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9088726G>A	uc002mkp.3	-	0	3293	c.3089C>T	c.(3088-3090)cCa>cTa	p.P1030L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1030	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						CATAGAGCCTGGGCCATTCGT	0.478000														116			54		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130286134	130286134	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:130286134G>A	uc001qgg.4	-	3	1546	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	396	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCAGGTGGACGAACAGCGGTG	0.677000														9			4		0	0	1	0	0
STX4	6810	broad.mit.edu	37	16	31045633	31045633	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31045633C>T	uc002eal.3	+	2	443	c.219C>T	c.(217-219)ccC>ccT	p.P73P	STX4_uc002eak.3_Silent_p.P71P|STX4_uc002eam.3_5'UTR	NM_004604	NP_004595	Q12846	STX4_HUMAN	Homo sapiens syntaxin 4 (STX4), mRNA.	73					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TGGCCACGCCCCTTCCCGAGG	0.602000														74			41		0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3784165	3784165	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3784165C>T	uc002lyt.3	-	4	719	c.319G>A	c.(319-321)Gag>Aag	p.E107K	MATK_uc002lyv.3_Missense_Mutation_p.E108K|MATK_uc002lyu.3_Missense_Mutation_p.E66K|MATK_uc010dtq.3_Missense_Mutation_p.E107K	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	107	SH3.			ER -> DG (in Ref. 1; AAA16703).	cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCCCGCTCCCGCAGCGCC	0.677000														56			17		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136529031	136529031	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:136529031T>A	uc004cep.4	-	20	2871	c.2737A>T	c.(2737-2739)Agg>Tgg	p.R913W	SARDH_uc004ceo.3_Missense_Mutation_p.R913W|SARDH_uc011mdo.2_Missense_Mutation_p.R745W|SARDH_uc011mdn.2_Missense_Mutation_p.R913W|SARDH_uc004cen.3_Missense_Mutation_p.R363W	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	913					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	p.K912E(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCCTTCACCCTCTTGTTGTTG	0.592000														121			35		0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186646786	186646786	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:186646786G>A	uc001gsb.3	-	4	771	c.634C>T	c.(634-636)Cat>Tat	p.H212Y	PTGS2_uc009wyo.3_Missense_Mutation_p.H59Y	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	212					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	CTTACCCCATGGCCCAGCCCG	0.408000														105			47		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55268032	55268032	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55268032C>T	uc003tqk.3	+	23	3118	c.2872C>T	c.(2872-2874)Cgc>Tgc	p.R958C	EGFR_uc022adm.1_Missense_Mutation_p.R958C|EGFR_uc010kzg.2_Missense_Mutation_p.R913C|EGFR_uc022adn.1_Missense_Mutation_p.R913C|EGFR_uc011kco.2_Missense_Mutation_p.R905C	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	958	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CGCAGATAGTCGCCCAAAGTT	0.458000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				101			29		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220636	130220636	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:130220636G>A	uc004evz.3	+	10	1828	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	ARHGAP36_uc004ewa.3_Missense_Mutation_p.E483K|ARHGAP36_uc004ewb.3_Missense_Mutation_p.E464K|ARHGAP36_uc004ewc.3_Missense_Mutation_p.E359K	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	495					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCCTTCTGATGAAGGTCAGTT	0.537000														19			20		0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41795943	41795943	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:41795943G>A	uc003ckv.4	-	21	2432	c.2231C>T	c.(2230-2232)cCc>cTc	p.P744L		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	744							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GCATGTTGAGGGGCTGTCAAG	0.368000														83			16		0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160458917	160458917	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160458917C>T	uc001fwe.2	-	5	910	c.840G>A	c.(838-840)acG>acA	p.T280T	SLAMF6_uc010pji.2_Silent_p.T169T|SLAMF6_uc001fwd.2_Silent_p.T279T|SLAMF6_uc010pjh.2_Silent_p.T230T|SLAMF6_uc010pjj.2_3'UTR	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	280						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CAGTGTTGTTCGTTGGAGACA	0.443000														101			43		0	0	1	0	0
INO80E	283899	broad.mit.edu	37	16	30016748	30016748	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30016748C>T	uc002dvg.1	+	6	821	c.720C>T	c.(718-720)atC>atT	p.I240I	BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_Non-coding_Transcript	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN	Homo sapiens INO80 complex subunit E (INO80E), mRNA.	240					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						ACCTGGTGATCGACATCCCGG	0.662000											OREG0023725	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			5		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7989454	7989454	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7989454G>A	uc002gjy.1	-	1	493	c.232C>T	c.(232-234)Ccc>Tcc	p.P78S	MIR4314_uc021tpn.1_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	78	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGGTCCTTGGGGAAGAAGGCG	0.592000										Multiple Myeloma(8;0.094)				26			24		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142566816	142566816	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142566816C>T	uc011kst.2	+	15	3160	c.2373C>T	c.(2371-2373)ttC>ttT	p.F791F	EPHB6_uc011ksu.2_Silent_p.F791F|EPHB6_uc003wbs.3_Silent_p.F499F|EPHB6_uc003wbt.3_Silent_p.F265F|EPHB6_uc003wbu.3_Silent_p.F499F|EPHB6_uc003wbv.3_Silent_p.F175F	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	791	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCTTTGCCTTCGTCCATCGCT	0.632000														38			10		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22047044	22047044	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:22047044A>T	uc001rfh.3	-	11	1744	c.1724T>A	c.(1723-1725)cTg>cAg	p.L575Q	ABCC9_uc001rfi.1_Missense_Mutation_p.L575Q	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	575	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAAGAGAGACAGTGAAGCAAA	0.478000														97			13		0	0	1	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72958220	72958220	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72958220G>A	uc010uks.1	+	15	1835	c.1794G>A	c.(1792-1794)gaG>gaA	p.E598E	DQ582073_uc002aux.1_5'Flank|DQ577530_uc002auy.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	598										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						AGGAGGAGGAGATGAAGGTAG	0.627000														321			32		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139216801	139216801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:139216801G>A	uc003leu.1	+	10	1848	c.1643G>A	c.(1642-1644)gGg>gAg	p.G548E		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	548	PH.				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)			GTGCTCAAAGGGACCATCCTG	0.622000														66			34		0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11102947	11102947	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11102947G>A	uc001aru.3	-	5	906	c.874C>T	c.(874-876)Cac>Tac	p.H292Y		NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	292	CUB 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CTCGTGTAGTGGATCTTCCAG	0.532000														92			42		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71004250	71004250	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:71004250C>T	uc003pfg.4	-	4	475	c.316G>A	c.(316-318)Gga>Aga	p.G106R		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	106	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCAGGCAGTCCACTGGGATAT	0.388000														81			47		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45555787	45555787	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:45555787C>T	uc010dnv.3	-	3	2206	c.1770G>A	c.(1768-1770)agG>agA	p.R590R	ZBTB7C_uc002ldb.3_Silent_p.R568R|ZBTB7C_uc010dnu.3_Silent_p.R577R|ZBTB7C_uc010dnw.3_Silent_p.R568R	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	568						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CCCCCGCGTTCCTCTCAGCCT	0.736000														10			5		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81744996	81744996	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:81744996G>A	uc010tvu.2	-	3	857	c.659C>T	c.(658-660)cCt>cTt	p.P220L	STON2_uc001xvk.1_Missense_Mutation_p.P220L|STON2_uc010tvt.2_Missense_Mutation_p.P17L	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	220					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGGAGGGGCAGGGTGCCCATT	0.532000														49			27		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143748223	143748223	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143748223C>T	uc011ktw.2	+	0	729	c.729C>T	c.(727-729)tcC>tcT	p.S243S		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CCTGCTCCTCCCACCTTTGCA	0.617000														179			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176128	140176128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140176128G>A	uc003lhd.2	+	0	1685	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E527K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E527K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	541	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCACGAGGAAGTGGAGCT	0.687000														122			47		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672571	186672571	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:186672571G>A	uc002upl.3	+	16	18805	c.18805G>A	c.(18805-18807)Gaa>Aaa	p.E6269K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TAACATAATAGAAGAAATTGC	0.303000														48			16		0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127954827	127954827	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:127954827G>A	uc003vmp.2	-	16	2150	c.2035C>T	c.(2035-2037)Ccc>Tcc	p.P679S	RBM28_uc011koj.1_Missense_Mutation_p.P538S	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	679					RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTGATTTTGGGGCCTCGGTGT	0.532000														259			79		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086521	9086521	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9086521C>T	uc002mkp.3	-	0	5498	c.5294G>A	c.(5293-5295)gGc>gAc	p.G1765D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1765	Ser-rich.|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						AAATGTGCTGCCCCCTATGAA	0.502000														73			6		0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793946	17793946	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17793946C>T	uc009yhc.1	+	1	1360	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	KCNC1_uc001mnk.4_Silent_p.I435I	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	435						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGCCCGTCATCGTGAACAATT	0.567000														82			26		0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142681066	142681066	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:142681066G>A	uc003evg.3	-	0	1113	c.1113C>T	c.(1111-1113)tcC>tcT	p.S371S	PAQR9_uc003evf.1_Non-coding_Transcript	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	Homo sapiens progestin and adipoQ receptor family member IX (PAQR9), mRNA.	371						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						TGCAGAATTCGGAGCTGTTTA	0.527000														127			41		0	0	1	0	0
HOXB4	3214	broad.mit.edu	37	17	46654296	46654296	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:46654296G>A	uc002inp.3	-	1	606	c.544C>T	c.(544-546)Cac>Tac	p.H182Y	HOXB3_uc010wlm.2_Intron|HOXB3_uc010dbf.3_Intron|HOXB3_uc010dbg.3_Intron|HOXB3_uc002ino.3_5'Flank|HOXB3_uc010wlk.2_5'Flank|HOXB3_uc010wll.2_Intron	NM_024015	NP_076920	P17483	HXB4_HUMAN	Homo sapiens homeobox B4 (HOXB4), mRNA.	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						CGGTTGTAGTGAAATTCCTTC	0.632000														58			60		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48370691	48370691	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48370691G>A	uc001jex.3	+	1	321	c.159G>A	c.(157-159)acG>acA	p.T53T	ZNF488_uc021ppx.1_Silent_p.T53T	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TCGAGAAGACGAACCGCCTGG	0.677000														59			25		0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78210729	78210729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:78210729C>T	uc002jyb.2	+	7	1045	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	SLC26A11_uc002jyc.2_Missense_Mutation_p.R247C|SLC26A11_uc002jyd.2_Missense_Mutation_p.R247C|SLC26A11_uc010dhv.2_Missense_Mutation_p.R247C	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	247						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCTCCTAGCTCGCAACGCCCT	0.632000														166			71		0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	85926837	85926837	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:85926837G>A	uc004ams.2	-	7	940	c.738C>T	c.(736-738)gtC>gtT	p.V246V	FRMD3_uc004amr.1_Silent_p.V246V|FRMD3_uc022bja.1_Silent_p.V202V|FRMD3_uc022biz.1_Silent_p.V52V	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	246	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TTCCCTGAAAGACCACAAAGC	0.353000														61			21		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30260457	30260457	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:30260457C>T	uc002kxm.1	-	5	1732	c.1344G>A	c.(1342-1344)acG>acA	p.T448T		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	448						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GCCATTCATTCGTTTCTAGGT	0.473000														78			36		0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46914910	46914910	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46914910C>T	uc002pep.3	-	0	2010	c.1158G>A	c.(1156-1158)gaG>gaA	p.E386E		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	386						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TATCTGCAGCCTCTTCCCTGT	0.577000														237			20		0	0	1	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378989	142378989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142378989C>T	uc003waa.1	+	1	257	c.257C>T	c.(256-258)tCc>tTc	p.S86F	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TCAACAGTCTCCAGAATAAGG	0.483000														71			28		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39906027	39906027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39906027G>A	uc010xuz.2	+	3	752	c.427G>A	c.(427-429)Gag>Aag	p.E143K	PLEKHG2_uc010xuy.2_Missense_Mutation_p.E84K|PLEKHG2_uc002olj.3_Missense_Mutation_p.E143K|PLEKHG2_uc010xva.2_5'UTR	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	143	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	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCTGAGCGTGGAGCAGGTGGG	0.647000														42			22		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138999	126138999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:126138999C>T	uc001uhe.1	+	8	2988	c.2980C>T	c.(2980-2982)Cat>Tat	p.H994Y	TMEM132B_uc001uhf.1_Missense_Mutation_p.H506Y	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	994						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)		GAAGACTTTTCATAGTCAACT	0.448000														27			13		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664162	44664162	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44664162G>A	uc010zxl.1	+	2	412	c.336G>A	c.(334-336)aaG>aaA	p.K112K	SLC12A5_uc002xra.2_Silent_p.K89K|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Silent_p.K89K	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	112					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGGAAAAAAGAAGCCGGTGC	0.557000														42			18		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174230	51174230	+	Missense_Mutation	SNP	G	A	A	rs61731136	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:51174230G>A	uc021tif.1	-	1	1934	c.1612C>T	c.(1612-1614)Ccg>Tcg	p.P538S	SALL1_uc021tid.1_Missense_Mutation_p.P538S|SALL1_uc021tie.1_Missense_Mutation_p.P635S|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	635					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTCGCCGTCGGGACTGAGTTG	0.632000														47			24		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531100	50531100	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50531100G>A	uc021pqb.1	+	0	510	c.510G>A	c.(508-510)ctG>ctA	p.L170L	C10orf71_uc021pqa.1_Silent_p.L169L|C10orf71_uc021pqc.1_Silent_p.L170L	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	170										endometrium(1)	1						CTCCGGCTCTGAAAAATCCTC	0.498000														35			11		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156924090	156924090	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156924090G>A	uc003lwz.3	-	13	1485	c.1406C>T	c.(1405-1407)gCt>gTt	p.A469V	ADAM19_uc003lww.2_Missense_Mutation_p.A202V|ADAM19_uc003lwy.3_Missense_Mutation_p.A68V|ADAM19_uc011ddr.1_Missense_Mutation_p.A400V	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	469	Disintegrin.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTCCCAGGAGCCAACAGCTG	0.567000														28			6		0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108863374	108863374	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:108863374G>A	uc001vqn.3	-	1	516	c.243C>T	c.(241-243)gcC>gcT	p.A81A	LIG4_uc001vqo.3_Silent_p.A81A|LIG4_uc010agf.3_Silent_p.A81A|LIG4_uc001vqp.3_Silent_p.A81A|LIG4_uc010agg.1_Silent_p.A14A|LIG4_uc021rmk.1_Silent_p.A81A	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	81					DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TAATTCCATAGGCCATTCTCT	0.353000								Non-homologous end-joining						125			38		0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235596	127235596	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:127235596C>T	uc003vmd.2	+	1	599	c.380C>T	c.(379-381)tCc>tTc	p.S127F	FSCN3_uc003vmc.1_Missense_Mutation_p.S82F|FSCN3_uc011kog.1_Non-coding_Transcript|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.2_Missense_Mutation_p.S127F	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	127						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TTTTGCACTTCCCACGTCCTC	0.572000														42			16		0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86905850	86905850	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:86905850G>A	uc001dlr.4	+	7	1385	c.1223G>A	c.(1222-1224)gGa>gAa	p.G408E		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	408	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AAACTGAATGGAAAAGCTTAT	0.393000														139			51		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114181785	114181785	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:114181785G>A	uc001kzu.3	+	15	1748	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	ACSL5_uc001kzs.3_Missense_Mutation_p.E490K|ACSL5_uc001kzt.3_Missense_Mutation_p.E490K|ACSL5_uc009xxz.3_Missense_Mutation_p.E490K|ACSL5_uc010qrj.2_Missense_Mutation_p.E272K	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	490					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGTGAATAATGAAGGAGAGGT	0.473000														59			28		0	0	1	0	0
LIAS	11019	broad.mit.edu	37	4	39465209	39465209	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:39465209C>T	uc003guf.3	+	3	450	c.377C>T	c.(376-378)gCc>gTc	p.A126V	LIAS_uc003gue.4_Missense_Mutation_p.A126V|LIAS_uc011bym.2_Missense_Mutation_p.P95S|LIAS_uc003gug.3_Missense_Mutation_p.A126V	NM_006859	NP_006850	O43766	LIAS_HUMAN	Homo sapiens lipoic acid synthetase (LIAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	126					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	TATGCCACCGCCACAGCCACG	0.458000														34			11		0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30889982	30889982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:30889982G>A	uc003xin.3	-	0	336	c.317C>T	c.(316-318)aCc>aTc	p.T106I	WRN_uc003xio.4_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.T106I	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	Homo sapiens purine-rich element binding protein G (PURG), transcript variant A, mRNA.	106						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CAGGGAGAGGGTCAGTTTACT	0.577000														61			24		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	120439	120439	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000209.1:120439C>T	uc010yie.2	+	3	402	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.L128F|KIR2DL2_uc002qum.3_Missense_Mutation_p.L131F	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	131					regulation of immune response	integral to membrane|plasma membrane	receptor activity										GAAACCTTCTCTCTCAGCCCA	0.557000														199			63		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327454	57327454	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57327454C>T	uc002qnu.2	-	6	2707	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E757K|PEG3_uc002qnv.2_Missense_Mutation_p.E786K|PEG3_uc002qnw.2_Missense_Mutation_p.E662K|PEG3_uc002qnx.2_Missense_Mutation_p.E660K|PEG3_uc010etr.2_Missense_Mutation_p.E786K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	786					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCTGAGCTTCCACAGAGGCT	0.433000														204			85		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1095344	1095344	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1095344C>T	uc001lsx.1	+	33	6179	c.6152C>T	c.(6151-6153)cCt>cTt	p.P2051L		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4417						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GACTTTGATCCTCCCAGACAG	0.682000														27			8		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197403941	197403941	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197403941G>A	uc001gtz.3	+	8	3157	c.2948G>A	c.(2947-2949)aGg>aAg	p.R983K	CRB1_uc010poz.2_Missense_Mutation_p.R959K|CRB1_uc009wza.3_Missense_Mutation_p.R871K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.R464K|CRB1_uc001gub.1_Missense_Mutation_p.R632K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	983	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTCAGAACAAGGGATGCAAAT	0.338000														107			21		0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242794827	242794827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242794827G>A	uc002wcq.4	-	1	450	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	PDCD1_uc010fzs.3_Silent_p.L59L|PDCD1_uc010fzt.3_Intron	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	Homo sapiens programmed cell death 1 (PDCD1), mRNA.	128	Ig-like V-type.				T cell costimulation|apoptosis|humoral immune response|multicellular organismal development	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		TTGGGGGCCAGGGAGATGGCC	0.677000														41			15		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45633599	45633599	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:45633599C>T	uc002xsm.3	+	3	548	c.174C>T	c.(172-174)ctC>ctT	p.L58L	EYA2_uc010ghp.3_Silent_p.L58L|EYA2_uc002xsq.3_Silent_p.L58L	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	58					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CACGTGTCCTCCCCCGCCAGC	0.572000														119			18		0	0	1	0	0
CCL8	6355	broad.mit.edu	37	17	32647341	32647341	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:32647341C>T	uc002hib.3	+	1	585	c.130C>T	c.(130-132)Cct>Tct	p.P44S		NM_005623	NP_005614	P80075	CCL8_HUMAN	Homo sapiens chemokine (C-C motif) ligand 8 (CCL8), mRNA.	44					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TAGGAAAATTCCTATCCAGAG	0.443000														45			9		0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24185170	24185170	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:24185170G>A	uc003ccz.4	-	8	1080	c.560C>T	c.(559-561)gCc>gTc	p.A187V	THRB_uc010hfe.3_Missense_Mutation_p.A187V|THRB_uc003ccy.4_Missense_Mutation_p.A187V|THRB_uc003ccx.4_Missense_Mutation_p.A187V	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	187					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CTTCCTCTTGGCCAGCCTCTT	0.572000														83			6		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907971	12907971	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12907971C>T	uc010obf.2	-	1	398	c.172G>A	c.(172-174)Gat>Aat	p.D58N	LOC649330_uc009vno.2_Missense_Mutation_p.D58N	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	58							nucleic acid binding|nucleotide binding	p.D58N(1)									TTCTCCTTATCATATTGAACG	0.468000														278			32		0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119156009	119156009	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:119156009C>T	uc001pwe.3	+	10	1812	c.1674C>T	c.(1672-1674)tcC>tcT	p.S558S		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	558	Pro-rich.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GAGCAGAATCCCGACCTCAAA	0.577000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies		OREG0021401	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		72			25		0	0	1	0	0
C4orf26	152816	broad.mit.edu	37	4	76489459	76489459	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:76489459C>T	uc011cbo.2	+	2	282	c.247C>T	c.(247-249)Cca>Tca	p.P83S	C4orf26_uc011cbn.2_Non-coding_Transcript|C4orf26_uc003hip.2_Missense_Mutation_p.P68L	NM_001206981	NP_001193910	Q17RF5	CD026_HUMAN	Homo sapiens chromosome 4 open reading frame 26 (C4orf26), transcript variant 1, mRNA.	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACAAAGACACCCAGGTGTCCC	0.522000														89			31		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28710546	28710546	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28710546C>T	uc002kwn.3	-	15	2878	c.2616G>A	c.(2614-2616)gaG>gaA	p.E872E	DSC1_uc002kwm.3_3'UTR|BC042382_uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	872					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACTCCAGTCCCTCTTCTTCCT	0.423000														196			40		0	0	1	0	0
AK098438	0	broad.mit.edu	37	1	21754289	21754289	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:21754289G>A	uc001bep.1	-	0		c.12C>T								Homo sapiens cDNA FLJ25572 fis, clone JTH05111.																		TCCAAGTCAAGAGCCAAGCCA	0.468000														149			27		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183675836	183675836	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:183675836C>T	uc003ivd.1	+	20	4391	c.4316C>T	c.(4315-4317)tCc>tTc	p.S1439F	ODZ3_uc003ive.1_Missense_Mutation_p.S852F	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1439					signal transduction	integral to membrane		p.S1439F(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGAGAAATCTCCTTAGTGGCC	0.468000														39			16		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56372893	56372893	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56372893C>T	uc002qmd.4	+	3	2420	c.1998C>T	c.(1996-1998)agC>agT	p.S666S	NLRP4_uc002qmf.3_Silent_p.S591S|NLRP4_uc010etf.3_Silent_p.S497S	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	666							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGCATCCCAGCTGTCGCCTTC	0.557000														58			24		0	0	1	0	0
FAM70A	55026	broad.mit.edu	37	X	119419520	119419520	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:119419520G>A	uc004eso.4	-	5	682	c.455C>T	c.(454-456)tCc>tTc	p.S152F	FAM70A_uc004esp.4_Intron|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	152						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						AACCCTCGTGGAAGGAGAATT	0.448000														27			22		0	0	1	0	0
ZBP1	81030	broad.mit.edu	37	20	56189956	56189956	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:56189956C>T	uc002xyo.3	-	3	770	c.489G>A	c.(487-489)acG>acA	p.T163T	ZBP1_uc010gjm.3_Silent_p.T163T|ZBP1_uc002xyp.3_Silent_p.T88T|ZBP1_uc010zzn.2_Silent_p.T163T	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	163						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGCGGTAAATCGTCCATGCTT	0.552000														128			50		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128342409	128342409	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:128342409C>T	uc002top.3	+	13	1664	c.1611C>T	c.(1609-1611)gcC>gcT	p.A537A		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	537	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACAACAAGGCCTTCCTACAGC	0.557000														110			23		0	0	1	0	0
APP	351	broad.mit.edu	37	21	27284094	27284094	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:27284094G>A	uc002ylz.3	-	13	2068	c.1868C>T	c.(1867-1869)tCt>tTt	p.S623F	APP_uc011acg.2_Missense_Mutation_p.S131F|APP_uc010glk.3_Missense_Mutation_p.S599F|APP_uc002yma.3_Missense_Mutation_p.S604F|APP_uc011ach.2_Missense_Mutation_p.S567F|APP_uc021whz.1_Missense_Mutation_p.S623F|APP_uc021wia.1_Missense_Mutation_p.S604F|APP_uc002ymb.3_Missense_Mutation_p.S548F|APP_uc010glj.3_Missense_Mutation_p.S492F|APP_uc021wib.1_Missense_Mutation_p.S548F|APP_uc011aci.2_Missense_Mutation_p.S513F	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	623					G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				AGCCCCAAAAGAATGCCACGG	0.522000														45			6		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56139282	56139282	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:56139282C>T	uc002xyn.4	+	6	1182	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	PCK1_uc010zzm.2_Missense_Mutation_p.S23L	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	340					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCTGGGACTTCAGTGAAGACC	0.507000														61			31		0	0	1	0	0
VSIG1	340547	broad.mit.edu	37	X	107310234	107310234	+	Silent	SNP	C	T	T	rs138849840	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:107310234C>T	uc011msk.2	+	3	551	c.390C>T	c.(388-390)aaC>aaT	p.N130N	VSIG1_uc004eno.3_Silent_p.N94N	NM_001170553	NP_001164024	Q86XK7	VSIG1_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA.	94	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CAGGGTCCAACGATCCAGGTA	0.438000														61			6		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206166389	206166389	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:206166389G>A	uc002var.2	+	17	2801	c.2594G>A	c.(2593-2595)aGg>aAg	p.R865K	PARD3B_uc010fub.2_Missense_Mutation_p.R865K|PARD3B_uc002vao.2_Missense_Mutation_p.R865K|PARD3B_uc002vap.2_Missense_Mutation_p.R803K|PARD3B_uc002vaq.2_Missense_Mutation_p.R796K	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	865	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		gatccagaaaggaaaataaag	0.418000														29			12		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113353798	113353798	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:113353798G>A	uc003ynu.3	-	41	6719	c.6560C>T	c.(6559-6561)cCa>cTa	p.P2187L	CSMD3_uc003yns.3_Missense_Mutation_p.P1389L|CSMD3_uc003ynt.3_Missense_Mutation_p.P2147L|CSMD3_uc011lhx.2_Missense_Mutation_p.P2083L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2187	CUB 12.					integral to membrane|plasma membrane				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						TAAGGAAGATGGTATTTGAGG	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				70			24		0	0	1	0	0
PAOX	196743	broad.mit.edu	37	10	135193892	135193892	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:135193892G>A	uc001lmv.3	+	1	651	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	PAOX_uc001lmx.3_Missense_Mutation_p.E191K|PAOX_uc001lmy.3_Missense_Mutation_p.E191K|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Intron|PAOX_uc001lnb.3_Non-coding_Transcript|PAOX_uc001lnc.3_Intron|PAOX_uc001lmw.3_Intron	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.	329					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	p.L190V(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		CTTCAACCTGGAATGCTGTGT	0.597000														36			8		0	0	1	0	0
RFX5	5993	broad.mit.edu	37	1	151315436	151315436	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151315436G>A	uc001exv.1	-	10	1291	c.1077C>T	c.(1075-1077)gcC>gcT	p.A359A	RFX5_uc001exw.1_Silent_p.A359A|RFX5_uc010pcx.1_Silent_p.A319A	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	359						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCACTTTCAGGGCACCTGAAG	0.592000														73			37		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395491	154395491	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:154395491G>A	uc010jih.1	+	0	2232	c.2072G>A	c.(2071-2073)aGa>aAa	p.R691K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	691	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAACTTGAAAGAAACTTCCAG	0.443000														93			45		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808114	48808114	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:48808114C>T	uc002rwp.2	+	1	456	c.342C>T	c.(340-342)ctC>ctT	p.L114L	STON1-GTF2A1L_uc021vhf.1_Silent_p.L114L|STON1-GTF2A1L_uc002rwo.4_Silent_p.L114L|STON1-GTF2A1L_uc010fbm.3_Silent_p.L114L|STON1-GTF2A1L_uc010yol.2_Silent_p.L114L	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	114					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACAGCCCACTCGCAATATCAG	0.473000														68			39		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20990797	20990797	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20990797C>T	uc010vbe.2	-	49	7931	c.7931G>A	c.(7930-7932)cGa>cAa	p.R2644Q	DNAH3_uc010vbd.2_Missense_Mutation_p.R79Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2644	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTTGTGTCTTCGAAGTTTGTT	0.478000														67			32		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53170910	53170910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53170910G>A	uc001sax.3	-	0	220	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	56	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TAGAGGCTGCGACTGCCAAAG	0.667000														112			47		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058160	79058160	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:79058160G>A	uc002bej.4	-	18	4304	c.4093C>T	c.(4093-4095)Cct>Tct	p.P1365S	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1365					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCACCTCAGGGCTGAGGGAC	0.667000														22			15		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124840115	124840115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124840115G>A	uc021rga.1	-	23	3382	c.3265C>T	c.(3265-3267)Cac>Tac	p.H1089Y	NCOR2_uc021rgb.1_Missense_Mutation_p.H1073Y|NCOR2_uc010tbb.2_Missense_Mutation_p.H1082Y|NCOR2_uc010tbc.2_Missense_Mutation_p.H1072Y|NCOR2_uc021rgc.1_Missense_Mutation_p.H1072Y|NCOR2_uc010tba.2_Missense_Mutation_p.H1090Y|NCOR2_uc001ugj.1_Missense_Mutation_p.H1090Y	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1090					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCAGTGGGTGACCTGTGGAG	0.677000														12			10		0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39883959	39883959	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:39883959G>A	uc003axv.4	+	1	846	c.607G>A	c.(607-609)Gag>Aag	p.E203K	MGAT3_uc010gxy.3_Missense_Mutation_p.E203K	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	203					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	p.R202R(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGTGCCCAGGGAGGTGCCGCG	0.677000														18			7		0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073281	134073281	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:134073281C>T	uc003iha.3	+	0	2812	c.1986C>T	c.(1984-1986)gaC>gaT	p.D662D	PCDH10_uc003igz.3_Silent_p.D662D	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	662	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGGTGCGCGACCATGGGCAGC	0.726000														36			6		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94929538	94929538	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94929538G>A	uc001ydf.3	-	4	1361	c.1200C>T	c.(1198-1200)ccC>ccT	p.P400P	SERPINA9_uc001yde.3_Silent_p.P300P|SERPINA9_uc010avc.3_Silent_p.P251P|SERPINA9_uc001ydg.3_Silent_p.P364P	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.	382					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)		TGAAGTAAGAGGGGCCATCCT	0.498000														108			29		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169747	57169747	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57169747G>A	uc001cyk.4	+	6	963	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	298					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						AGAAGTGTGTGAAAAATTTGA	0.383000														179			77		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904769	55904769	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55904769G>A	uc010riz.2	-	0	426	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ACACCAGCAGGAGGCAGAGCC	0.473000														108			25		0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123508947	123508947	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123508947C>T	uc001pza.1	-	4	938	c.531G>A	c.(529-531)atG>atA	p.M177I	SCN3B_uc001pzb.1_Missense_Mutation_p.M177I	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	177					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		AGCAATATATCATCTCGATGA	0.453000														57			15		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42285037	42285037	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42285037G>A	uc021sjp.1	-	12	1368	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L	PLA2G4E_uc010udc.2_5'UTR|PLA2G4E_uc001zov.2_Silent_p.L80L	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	444	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GGAATTTGCGGAGCTGGTCTG	0.582000														45			28		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85935348	85935348	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:85935348G>A	uc003dql.3	+	3	379	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	CADM2_uc003dqj.3_Missense_Mutation_p.E125K|CADM2_uc003dqk.3_Missense_Mutation_p.E134K|CADM2_uc003dqm.2_Missense_Mutation_p.E17K|CADM2_uc021xay.1_Missense_Mutation_p.E17K|CADM2_uc021xaz.1_Missense_Mutation_p.E17K|CADM2_uc021xba.1_Missense_Mutation_p.E17K	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	125	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AGGTGTTCCTGAAAAGCCTCA	0.393000														58			17		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782677	54782677	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54782677G>A	uc002qfb.3	-	5	1211	c.945C>T	c.(943-945)atC>atT	p.I315I	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.I315I|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.I315I|LILRB2_uc010yet.2_Silent_p.I199I|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	315	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTGATCAGGATGTCCAGGG	0.652000														20			22		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120801536	120801536	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:120801536G>A	uc001ldu.3	-	18	3642	c.3496C>T	c.(3496-3498)Cct>Tct	p.P1166S	EIF3A_uc010qsu.2_Missense_Mutation_p.P1132S|EIF3A_uc009xzg.1_Missense_Mutation_p.P205S	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1166	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CAAGGACCAGGTCTTGAGTCA	0.443000														66			21		0	0	1	0	0
SCN2B	6327	broad.mit.edu	37	11	118039326	118039326	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118039326C>T	uc001psf.2	-	1	402	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_004588	NP_004579	O60939	SCN2B_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, beta (SCN2B), mRNA.	71	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		TTGTTGCACTCCTGGTAAGTC	0.597000														150			60		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43552380	43552380	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43552380C>T	uc001zrd.2	-	2	314	c.306G>A	c.(304-306)gtG>gtA	p.V102V	TGM5_uc001zre.2_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	102					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CGCACAAGCTCACCTCTGTGG	0.642000														76			28		0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201840306	201840306	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201840306C>T	uc001gwz.3	+	18	2477	c.2427C>T	c.(2425-2427)ttC>ttT	p.F809F		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	809					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TCATGGTGTTCGCTCATCTGG	0.483000														134			55		0	0	1	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25226182	25226182	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:25226182C>T	uc001ise.1	-	2	299	c.270G>A	c.(268-270)aaG>aaA	p.K90K	PRTFDC1_uc010qdd.1_Silent_p.K90K|PRTFDC1_uc009xkm.1_Non-coding_Transcript	NM_020200	NP_064585	Q9NRG1	PRDC1_HUMAN	Homo sapiens phosphoribosyl transferase domain containing 1 (PRTFDC1), mRNA.	90					GMP salvage|IMP salvage|adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|grooming behavior|hypoxanthine metabolic process|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						GGCTGATGTTCTTAAGGTGTT	0.373000														83			36		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121932424	121932424	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:121932424G>A	uc001uat.3	-	11	1796	c.1692C>T	c.(1690-1692)atC>atT	p.I564I	KDM2B_uc001uar.3_Silent_p.I155I|KDM2B_uc001uas.3_Silent_p.I533I|KDM2B_uc021rfd.1_Silent_p.I533I|KDM2B_uc001uau.3_Silent_p.I447I|KDM2B_uc021rfe.1_Silent_p.I564I|KDM2B_uc001uav.4_Silent_p.I474I	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	564					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGACCCCAGTGATGGCCAGAC	0.587000											OREG0022202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			10		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623260	100623260	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:100623260C>T	uc002taf.3	-	5	926	c.782G>A	c.(781-783)aGg>aAg	p.R261K	AFF3_uc002tag.3_Missense_Mutation_p.R236K|AFF3_uc010fiq.1_Missense_Mutation_p.R236K|AFF3_uc010yvr.1_Missense_Mutation_p.R390K|AFF3_uc002tah.1_Missense_Mutation_p.R261K|AFF3_uc010fir.1_Missense_Mutation_p.R313K	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	236					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GTCCATTGGCCTCACATACGC	0.577000														48			18		0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37488068	37488068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:37488068C>T	uc010efg.3	+	9	1993	c.1475C>T	c.(1474-1476)tCa>tTa	p.S492L	ZNF568_uc010xtn.2_Missense_Mutation_p.S428L|ZNF568_uc010efi.2_Missense_Mutation_p.S296L|ZNF568_uc010efj.2_Missense_Mutation_p.S296L|AX747376_uc021utt.1_5'Flank	NM_001204838	NP_001191767	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 5, mRNA.	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTTGTGCCTCACAGCTGAGT	0.428000														12			3		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56565064	56565064	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56565064G>A	uc002qmj.3	+	12	3189	c.3189G>A	c.(3187-3189)agG>agA	p.R1063R	NLRP5_uc002qmi.3_Silent_p.R1044R	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	1063						mitochondrion|nucleolus	ATP binding	p.R1063R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGATCTCGAGGAGCAGACACC	0.572000														41			13		0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59410955	59410955	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:59410955G>A	uc003xtm.4	-	1	217	c.154C>T	c.(154-156)Cct>Tct	p.P52S		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	52					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AACTCAAGAGGATTGGCACCA	0.418000									Neonatal Giant Cell Hepatitis					148			57		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129237967	129237967	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:129237967C>T	uc003eml.3	+	28	3768	c.3562C>T	c.(3562-3564)Cta>Tta	p.L1188L	IFT122_uc003emm.3_Silent_p.L1137L|IFT122_uc003emn.3_Silent_p.L1078L|IFT122_uc003emo.3_Silent_p.L1027L|IFT122_uc003emp.3_Silent_p.L987L|IFT122_uc010htc.3_Silent_p.L1130L|IFT122_uc011bky.2_Silent_p.L928L|IFT122_uc011bla.2_Silent_p.L911L|IFT122_uc003emr.3_Silent_p.L890L|IFT122_uc010hte.3_Silent_p.L463L|IFT122_uc003ems.3_Silent_p.L519L	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	1137					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						GATTCTGCGGCTAGTGGAGAC	0.582000														135			38		0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43268136	43268136	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43268136G>A	uc002ouo.2	-	1	460	c.362C>T	c.(361-363)aCc>aTc	p.T121I	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.T121I|PSG8_uc010ein.3_Intron|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	121	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GATGTGTAAGGTGTAGGATCC	0.443000														569			144		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73574719	73574719	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73574719C>T	uc001jrx.4	+	67	10130	c.9740C>T	c.(9739-9741)aCt>aTt	p.T3247I	CDH23_uc001jsg.4_Missense_Mutation_p.T1010I|CDH23_uc001jsh.4_Missense_Mutation_p.T975I|CDH23_uc001jsi.4_Missense_Mutation_p.T975I|CDH23_uc001jsj.4_Missense_Mutation_p.T147I|CDH23_uc010qjr.2_Missense_Mutation_p.T112I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	3250					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						CTGATACAGACTGAGCTGGAC	0.652000														25			7		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47401263	47401263	+	Silent	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47401263G>C	uc001cqp.4	-	4	618	c.567C>G	c.(565-567)gtC>gtG	p.V189V	CYP4A11_uc001cqq.2_Silent_p.V189V|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	189					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TCATCAAGGAGACGTGCTGAA	0.567000														67			14		0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20406640	20406640	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:20406640C>T	uc003suu.3	+	2	924	c.219C>T	c.(217-219)ttC>ttT	p.F73F	ITGB8_uc011jyh.2_5'UTR|ITGB8_uc003sut.3_Silent_p.F73F	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	73					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AACAGGATTTCATTTCAGGTG	0.303000														88			39		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6096537	6096537	+	Silent	SNP	C	T	T	rs141850118	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:6096537C>T	uc002wmr.3	-	2	1095	c.306G>A	c.(304-306)ccG>ccA	p.P102P	FERMT1_uc010gbt.3_5'UTR|FERMT1_uc002wms.3_Silent_p.P102P	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	102	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TCTTCAAATTCGGCAGACGAA	0.498000														90			40		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256006	15256006	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15256006C>T	uc001iob.3	-	7	1588	c.1581G>A	c.(1579-1581)gaG>gaA	p.E527E		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	527						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCTGTTCTTTCTCAGGTGATG	0.537000														225			28		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129902393	129902393	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:129902393G>A	uc001lke.3	-	12	7906	c.7711C>T	c.(7711-7713)Cac>Tac	p.H2571Y	MKI67_uc001lkf.3_Missense_Mutation_p.H2211Y|MKI67_uc009yav.1_Missense_Mutation_p.H2146Y|MKI67_uc009yaw.1_Missense_Mutation_p.H1721Y	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2571	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)				TCTTCAGTGTGACCTGGTGCT	0.483000														136			37		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54962074	54962074	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:54962074C>T	uc003dhl.3	-	1	1	c.-133_splice	c.e1-1		CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.							integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TGCTTTTCTTCAATGCAGAAA	0.453000														17			15		0	0	1	0	0
FOLR1	2348	broad.mit.edu	37	11	71907116	71907116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:71907116G>A	uc001orz.2	+	5	945	c.669G>A	c.(667-669)gaG>gaA	p.E223E	FOLR1_uc001osa.2_Silent_p.E223E|FOLR1_uc001osb.2_Silent_p.E223E|FOLR1_uc001osd.2_Silent_p.E223E	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	223					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						ACCCCAATGAGGAGGTGGCGA	0.607000														69			13		0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64514191	64514191	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64514191C>T	uc001oax.4	-	19	3286	c.2469G>A	c.(2467-2469)cgG>cgA	p.R823R	RASGRP2_uc009ypu.3_5'Flank|RASGRP2_uc009ypv.3_5'Flank|RASGRP2_uc009ypw.3_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.4_Silent_p.R735R	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	823					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	p.R823L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CCCAGATCTCCCGGGCATACT	0.617000														63			20		0	0	1	0	0
ACY3	91703	broad.mit.edu	37	11	67410302	67410302	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67410302C>T	uc001omq.3	-	7	1024	c.853G>A	c.(853-855)Gag>Aag	p.E285K		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	Homo sapiens aspartoacylase (aminocyclase) 3 (ACY3), mRNA.	285					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	TAGGCAGCCTCGTTAATGAAC	0.597000														54			36		0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26163834	26163834	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:26163834G>A	uc001uqk.3	+	23	2350	c.2208G>A	c.(2206-2208)ttG>ttA	p.L736L	ATP8A2_uc010tdi.2_Silent_p.L696L|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Silent_p.L246L	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	696					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGGACTCTTTGGATGTAAGTA	0.363000														90			30		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28260212	28260212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:28260212C>T	uc009xky.3	-	7	1065	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	ARMC4_uc010qds.2_Intron|ARMC4_uc010qdt.2_Missense_Mutation_p.E15K|ARMC4_uc001itz.3_Missense_Mutation_p.E323K|ARMC4_uc010qdu.1_Missense_Mutation_p.E15K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	323							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGATCCTTTTCCTTTTGCTGG	0.388000														53			21		0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124421994	124421994	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124421994G>A	uc001ufw.1	-	4	754	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	CCDC92_uc001ufv.1_Missense_Mutation_p.R186C|CCDC92_uc001ufx.1_Missense_Mutation_p.R203C	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	203										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		ATGCGGCGGCGAGGCGTTTCG	0.617000														59			25		0	0	1	0	0
HDHD3	81932	broad.mit.edu	37	9	116136320	116136320	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116136320G>A	uc022bme.1	-	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F	HDHD3_uc004bhi.1_Silent_p.F105F|HDHD3_uc004bhk.3_Silent_p.F105F	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 3 (HDHD3), mRNA.	105							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						AGGGGTGGCTGAAGTCTTTAT	0.607000														115			32		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51092883	51092883	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:51092883G>A	uc003tps.3	-	12	3906	c.3721C>T	c.(3721-3723)Ctc>Ttc	p.L1241F	COBL_uc003tpr.4_Missense_Mutation_p.L1231F|COBL_uc011kcl.2_Missense_Mutation_p.L1184F|COBL_uc003tpp.4_Missense_Mutation_p.L1017F|COBL_uc003tpq.4_Missense_Mutation_p.L1125F|COBL_uc003tpo.4_Missense_Mutation_p.L773F	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	1231	WH2 3.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GTGTTGCTGAGGGTGCCCGTG	0.647000														74			18		0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6458118	6458118	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6458118C>T	uc001qnw.3	-	9	1992	c.1728G>A	c.(1726-1728)aaG>aaA	p.K576K	SCNN1A_uc001qnv.3_Silent_p.K217K|SCNN1A_uc001qnx.3_Silent_p.K517K|SCNN1A_uc010sfb.2_Silent_p.K540K	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	517					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GGACTGACCTCTTGTTGTTGA	0.488000														321			126		0	0	1	0	0
CSAD	51380	broad.mit.edu	37	12	53552405	53552405	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53552405G>A	uc001sby.3	-	15	1498	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	CSAD_uc021qyc.1_Missense_Mutation_p.H225Y|CSAD_uc001sbw.3_Missense_Mutation_p.H311Y|CSAD_uc009zmt.3_Missense_Mutation_p.H240Y|CSAD_uc010snx.2_Missense_Mutation_p.H485Y|CSAD_uc001sbz.3_Missense_Mutation_p.H458Y|CSAD_uc009zmu.3_Missense_Mutation_p.H311Y|CSAD_uc021qyd.1_Intron	NM_001244705	NP_001231634	Q9Y600	CSAD_HUMAN	Homo sapiens cysteine sulfinic acid decarboxylase (CSAD), transcript variant 2, mRNA.	458					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CGGGTCCCGTGGGGCTGGTAG	0.612000														28			9		0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2464818	2464818	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:2464818G>A	uc002wge.1	-	5	1277	c.789C>T	c.(787-789)ctC>ctT	p.L263L	ZNF343_uc010gao.1_Silent_p.L263L|ZNF343_uc002wgd.1_Silent_p.L173L	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TCTTCCCTAAGAGGGTCCTCG	0.433000														99			18		0	0	1	0	0
TMEM27	57393	broad.mit.edu	37	X	15657812	15657812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:15657812G>A	uc004cxc.2	-	4	641	c.385C>T	c.(385-387)Cct>Tct	p.P129S		NM_020665	NP_065716	Q9HBJ8	TMM27_HUMAN	Homo sapiens transmembrane protein 27 (TMEM27), mRNA.	129					proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					AGTGTGGAAGGGATTTTTAAA	0.348000														52			58		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179449278	179449278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179449278C>T	uc021vsy.1	-	259	57521	c.57296G>A	c.(57295-57297)cGa>cAa	p.R19099Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R12794Q|TTN_uc021vta.1_Missense_Mutation_p.R12727Q|TTN_uc021vtb.1_Missense_Mutation_p.R12602Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20026	Fibronectin type-III 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R12794P(1)|p.R19099P(1)|p.R19097P(1)|p.R12602P(1)|p.R12727P(1)		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)			TTTGGTGACTCGTGCATTCTT	0.398000														48			27		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43433789	43433789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43433789C>T	uc002ovl.4	-	3	613	c.511G>A	c.(511-513)Gag>Aag	p.E171K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.E50K	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	172	Ig-like C2-type 1.				female pregnancy	extracellular region							Prostate(69;0.00682)				TCTGGAGTCTCAGGATCACAG	0.527000														295			119		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712534	121712534	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121712534G>A	uc003ees.3	-	6	1265	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	ILDR1_uc003eeq.3_Silent_p.L322L|ILDR1_uc003eer.3_Silent_p.L310L|ILDR1_uc010hrg.3_Silent_p.L265L	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	354						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GAATTGGGGTGAGCCACTGCT	0.602000														35			15		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54959101	54959101	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:54959101G>A	uc003dhl.3	-	1	283	c.149C>T	c.(148-150)cCt>cTt	p.P50L	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	50	LRRNT.					integral to membrane		p.P49S(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TCGAGTCTGAGGAGGTAAATG	0.473000														37			6		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113196700	113196700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113196700C>T	uc010mtz.3	-	29	5312	c.4975G>A	c.(4975-4977)Gat>Aat	p.D1659N		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1659	Sushi 5.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAGCCTGGATCACAGAACAGA	0.502000														22			8		0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	426755	426755	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:426755G>A	uc002cgu.4	-	4	822	c.693C>T	c.(691-693)tcC>tcT	p.S231S	TMEM8A_uc002cgv.4_Silent_p.S38S	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	Homo sapiens transmembrane protein 8A (TMEM8A), mRNA.	231					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GGCTCCCATTGGACACGCAGT	0.667000														27			4		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101348054	101348054	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:101348054C>T	uc010txj.1	-	0	3131	c.3072G>A	c.(3070-3072)agG>agA	p.R1024R	MIR433_uc021scd.1_5'Flank|MIR127_uc001yig.3_5'Flank|MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	1024										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCGATGGATCCCTGGGGAATC	0.577000														11			3		0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	127998957	127998957	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:127998957C>T	uc004bpn.3	-	7	2140	c.1879G>A	c.(1879-1881)Gtt>Att	p.V627I		NM_005347	NP_005338	P11021	GRP78_HUMAN	Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	627					ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	ATTGGTTGAACAATTTCTTCC	0.423000										Prostate(1;0.17)				85			24		0	0	1	0	0
FEZ2	9637	broad.mit.edu	37	2	36782889	36782889	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:36782889G>A	uc002rpg.2	-	7	1110	c.1063C>T	c.(1063-1065)Ctt>Ttt	p.L355F	FEZ2_uc002rpf.2_Missense_Mutation_p.L157F|FEZ2_uc002rph.2_Missense_Mutation_p.L328F|FEZ2_uc002rpj.2_Silent_p.F302F	NM_001042548	NP_001036013	Q9UHY8	FEZ2_HUMAN	Homo sapiens fasciculation and elongation protein zeta 2 (zygin II) (FEZ2), transcript variant 2, mRNA.	328					axon guidance|signal transduction		protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				ATGGCACGAAGAACTGCAAAA	0.333000														32			11		0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36653169	36653169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:36653169G>A	uc003ape.3	+	3	407	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	APOL1_uc011amn.1_5'UTR|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Intron|APOL1_uc003apf.3_Missense_Mutation_p.E29K|APOL1_uc011amp.2_Missense_Mutation_p.E29K|APOL1_uc011amq.2_Intron|APOL1_uc010gwx.3_5'UTR	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	29					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						GAGGGCAGAGGAAGCTGGAGC	0.502000														37			12		0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183586769	183586769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:183586769C>T	uc002uow.1	+	4	800	c.385C>T	c.(385-387)Cct>Tct	p.P129S	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.P129S|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	129					ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGATGATGATCCTGAAATCAT	0.259000														98			43		0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3782725	3782725	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:3782725C>T	uc010sen.1	-	6	1130	c.558G>A	c.(556-558)ctG>ctA	p.L186L	EFCAB4B_uc001qmj.2_Silent_p.L186L|EFCAB4B_uc001qmi.1_Non-coding_Transcript	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	186					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CCTCCTTCTTCAGCTGCAACC	0.493000														69			33		0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23328614	23328614	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:23328614C>T	uc002nrb.1	+	3		c.967C>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						AAAAACCCTACCAATGTGAGA	0.333000														18			3		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47043884	47043884	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:47043884C>T	uc003cqp.3	+	31	5354	c.5175C>T	c.(5173-5175)ttC>ttT	p.F1725F	NBEAL2_uc010hjm.2_Silent_p.F1102F|NBEAL2_uc010hjn.2_Silent_p.F121F	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1725							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGTCCCAGTTCGAAATGGACA	0.582000														60			23		0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156128250	156128250	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156128250C>T	uc001fnl.3	+	4	614	c.435C>T	c.(433-435)ttC>ttT	p.F145F	SEMA4A_uc009wrq.3_Silent_p.F145F|SEMA4A_uc001fnm.3_Silent_p.F145F|SEMA4A_uc001fnn.3_Intron|SEMA4A_uc001fno.3_Silent_p.F145F	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	145	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GCGGCACCTTCGCCTTCAGCC	0.522000														167			56		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926778	130926778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:130926778C>T	uc001uil.2	-	7	1284	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	RIMBP2_uc001uim.3_Silent_p.K264K	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	356	Fibronectin type-III 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCATGTTGAGCTTCTCGATGA	0.612000														63			26		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046395	69046395	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:69046395G>T	uc010fdg.3	+	8	1563	c.1144G>T	c.(1144-1146)Ggc>Tgc	p.G382C	ARHGAP25_uc010yql.2_Missense_Mutation_p.G342C|ARHGAP25_uc002sev.3_Missense_Mutation_p.G375C|ARHGAP25_uc002sew.3_Missense_Mutation_p.G374C|ARHGAP25_uc002sex.3_Missense_Mutation_p.G375C	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	381					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AAGCTCTGTAGGCTGGGATGC	0.522000														120			28		8.16721e-17	8.20681e-17	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140307828	140307828	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140307828G>A	uc003lih.2	+	0	1527	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.E451K	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	475	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)			ACCCCAGCAGGAACTTTTCGT	0.527000														95			53		0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52264053	52264053	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:52264053G>A	uc001ctc.4	-	23	2998	c.2676C>T	c.(2674-2676)gcC>gcT	p.A892A	NRD1_uc009vzb.3_Silent_p.A587A|NRD1_uc001cte.3_Silent_p.A760A|NRD1_uc001ctd.4_Silent_p.A824A|NRD1_uc001ctf.2_Silent_p.A824A|NRD1_uc010ong.1_Non-coding_Transcript	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	823					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TAGACCAACGGGCATATTCCA	0.403000														65			28		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5486048	5486048	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:5486048C>T	uc002gci.3	-	1	945	c.390G>A	c.(388-390)caG>caA	p.Q130Q	NLRP1_uc002gcg.1_Silent_p.Q130Q|NLRP1_uc002gch.4_Silent_p.Q130Q|NLRP1_uc002gck.3_Silent_p.Q130Q|NLRP1_uc002gcj.3_Silent_p.Q130Q|NLRP1_uc002gcl.3_Silent_p.Q130Q|NLRP1_uc010clh.3_Silent_p.Q130Q	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	130					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCTCTGAGCCCTGGGTGCACC	0.632000														10			12		0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56127844	56127844	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56127844G>A	uc010rjh.2	+	0	154	c.122G>A	c.(121-123)gGg>gAg	p.G41E		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ACCATGGCAGGGAACCTGGGC	0.493000														122			48		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113295194	113295194	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113295194G>A	uc001pnz.3	-	0	501	c.180C>T	c.(178-180)tcC>tcT	p.S60S	DRD2_uc010rwv.2_Silent_p.S60S|DRD2_uc001poa.4_Silent_p.S60S|DRD2_uc001pob.4_Silent_p.S60S|DRD2_uc009yyr.1_Silent_p.S60S	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	60					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.S60S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CCTTCTCGCGGGACACAGCCA	0.612000														56			22		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30704350	30704350	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:30704350C>T	uc003xil.3	-	0	2184	c.2184G>A	c.(2182-2184)ggG>ggA	p.G728G		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	728								p.N727Y(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTTCCATCTCCCCGTTATCAA	0.388000														129			16		0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58006880	58006880	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:58006880C>T	uc001spb.3	+	1	725	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	ARHGEF25_uc009zpy.3_Missense_Mutation_p.L128F|ARHGEF25_uc001soz.1_Intron|ARHGEF25_uc001spa.3_5'UTR|BC073932_uc001spc.3_Non-coding_Transcript	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 25 (ARHGEF25), transcript variant 1, mRNA.	89					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CAAACATTGTCTCAGTGTGGA	0.592000														33			4		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713515	70713515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70713515G>A	uc010ttg.2	-	0	1004	c.353C>T	c.(352-354)tCc>tTc	p.S118F						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		TTGTAGCTGGGAACGACTGAT	0.373000														89			42		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50467665	50467665	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:50467665G>A	uc003tow.4	+	7	1055	c.900G>A	c.(898-900)gaG>gaA	p.E300E	IKZF1_uc022acq.1_Silent_p.E157E|IKZF1_uc003tpa.4_Silent_p.E65E|IKZF1_uc022acr.1_Silent_p.E75E|IKZF1_uc022acs.1_Silent_p.E30E|IKZF1_uc022act.1_Silent_p.E203E|IKZF1_uc022acu.1_Silent_p.E213E|IKZF1_uc003tox.4_Silent_p.E258E|IKZF1_uc022acv.1_Silent_p.E161E|IKZF1_uc022acw.1_Silent_p.E171E|IKZF1_uc022acx.1_Silent_p.E213E|IKZF1_uc022acy.1_Silent_p.E107E|IKZF1_uc022acz.1_Silent_p.E117E|IKZF1_uc011kck.2_Silent_p.E213E|IKZF1_uc003toy.4_Silent_p.E258E|IKZF1_uc003toz.4_Silent_p.E270E|IKZF1_uc010kyx.3_Silent_p.E40E	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	300					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCAGCTACGAGAAGGAGAACG	0.637000			"""D,T"""	BCL6	"""ALL, DLBCL"""									27			10		0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230928654	230928655	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:230928654_230928655GG>AA	uc001htz.1	+	16	1963_1964	c.1850_1851GG>AA	c.(1849-1851)cgg>cAA	p.R617Q	CAPN9_uc009xfg.1_Missense_Mutation_p.R554Q|CAPN9_uc001hua.1_Missense_Mutation_p.R591Q	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	617	Domain IV.|EF-hand 3.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TATGAACTACGGACTGCACTGA	0.530000														119			65		0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375235	8375235	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8375235G>A	uc001qui.2	-	6	1137	c.578C>T	c.(577-579)tCc>tTc	p.S193F	FAM90A1_uc001quh.2_Missense_Mutation_p.S193F	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	193							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		ACTTGAGGAGGAGCTCAGACT	0.597000														90			23		0	0	1	0	0
MBTPS2	51360	broad.mit.edu	37	X	21863445	21863445	+	Silent	SNP	C	T	T	rs3834687		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:21863445C>T	uc004dae.3	+	2	578	c.381C>T	c.(379-381)tcC>tcT	p.S127S	MBTPS2_uc004dab.2_Silent_p.S127S	NM_015884	NP_056968	O43462	MBTP2_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 2 (MBTPS2), mRNA.	127	Poly-Ser.				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						cttcctcttcctcttcttcat	0.418000														16			26		0	0	1	0	0
LOC729862	729862	broad.mit.edu	37	5	28927113	28927113	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:28927113C>T	uc003jgz.1	+	0		c.137C>T								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		AAGGGAGGCTCCAAGACCTCA	0.502000														36			10		0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24865551	24865551	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:24865551C>T	uc003neo.1	-	6	718	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	FAM65B_uc011djs.1_Missense_Mutation_p.R210Q|FAM65B_uc011dju.2_Missense_Mutation_p.R215Q|FAM65B_uc003nep.3_Missense_Mutation_p.R181Q|FAM65B_uc011djt.2_Missense_Mutation_p.R181Q	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA.	181					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CTTGAAGCTCCGATTGATCTC	0.522000														59			28		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10293918	10293918	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10293918C>T	uc002gmm.2	-	39	5762	c.5667G>A	c.(5665-5667)gaG>gaA	p.E1889E	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1889					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGGATTGTTCCTCCTAAGAAT	0.428000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					53			38		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61555329	61555329	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61555329C>T	uc002jau.2	+	1	321	c.287C>T	c.(286-288)gCc>gTc	p.A96V	ACE_uc010wph.2_Missense_Mutation_p.A96V|ACE_uc010wpi.2_Missense_Mutation_p.A96V|ACE_uc010ddu.2_5'UTR	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	96	Peptidase M2 1.				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)	TTTGCGGAGGCCTGGGGCCAG	0.622000														18			11		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100831085	100831085	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:100831085G>A	uc003yiv.3	+	46	8776	c.8665G>A	c.(8665-8667)Gac>Aac	p.D2889N	VPS13B_uc003yiw.3_Missense_Mutation_p.D2864N	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2889					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)			CATAGAACCTGACCTTGTACA	0.378000														72			23		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117352753	117352753	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:117352753G>A	uc001prh.1	-	11	2666	c.2664C>T	c.(2662-2664)gtC>gtT	p.V888V		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	828	Fibronectin type-III 1.				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)		CAGGGTCGATGACTGTGTCCC	0.627000														63			24		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2297770	2297770	+	Silent	SNP	C	T	T	rs139192773		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:2297770C>T	uc002wfx.4	+	5	823	c.726C>T	c.(724-726)acC>acT	p.T242T		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	242					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCACTTACACCGGTGGCCGGG	0.537000														112			35		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95719456	95719456	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95719456C>T	uc009xuj.2	-	0	2217	c.1698G>A	c.(1696-1698)aaG>aaA	p.K566K						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		TGATCTTGCCCTTGGGTTGGA	0.532000														26			14		0	0	1	0	0
TPTE2P3	220115	broad.mit.edu	37	13	53096829	53096829	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:53096829C>T	uc001vgw.3	+	10		c.1206C>T								Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3 (TPTE2P3), non-coding RNA.																		ACCTAATTTTCACTGATAGCA	0.313000														28			14		0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27457323	27457323	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:27457323C>T	uc003xfy.2	-	6	1318	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N	CLU_uc003xfw.2_Missense_Mutation_p.D380N|CLU_uc003xfx.2_Missense_Mutation_p.D380N|CLU_uc003xfz.2_Missense_Mutation_p.D380N	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	380					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TAGTACTGGTCTTCGCCTTGC	0.602000														19			3		0	0	1	0	0
POU3F4	5456	broad.mit.edu	37	X	82763827	82763827	+	Silent	SNP	G	T	T	rs56143048		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:82763827G>T	uc004eeg.2	+	0	559	c.495G>T	c.(493-495)gtG>gtT	p.V165V		NM_000307	NP_000298	P49335	PO3F4_HUMAN	Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA.	165					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	p.P164L(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TGCACCCGGTGCTCCGAGAGC	0.647000														4			6		0.00116845	0.00116952	1	1	0
TMCC3	57458	broad.mit.edu	37	12	94965318	94965318	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:94965318G>A	uc001tdj.2	-	3	1445	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	TMCC3_uc001tdi.2_Missense_Mutation_p.R412C	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	443						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ATGTGGCAGCGACTCTTCATC	0.478000														91			53		0	0	1	0	0
TUBA4B	80086	broad.mit.edu	37	2	220136346	220136346	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220136346G>A	uc002vkv.1	+	3	816	c.651G>A	c.(649-651)caG>caA	p.Q217Q	TUBA4B_uc002vku.3_Non-coding_Transcript					Homo sapiens tubulin, alpha 4b (pseudogene) (TUBA4B), non-coding RNA.																		CATCTCTGCAGAAAAGGTATA	0.557000														83			15		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21016731	21016731	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:21016731G>A	uc001bdr.4	-	6	1449	c.1331C>T	c.(1330-1332)tCa>tTa	p.S444L	KIF17_uc009vpx.3_5'UTR|KIF17_uc001bds.4_Missense_Mutation_p.S444L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	444					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GACGTCATATGAGTTGCGCAT	0.627000														56			22		0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242755875	242755876	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242755875_242755876CC>TT	uc002wcp.2	+	1	727_728	c.233_234CC>TT	c.(232-234)tcc>tTT	p.S78F	NEU4_uc010fzr.3_Missense_Mutation_p.S65F|NEU4_uc002wcm.3_Missense_Mutation_p.S65F|NEU4_uc002wco.2_Missense_Mutation_p.S65F|NEU4_uc002wcn.2_Missense_Mutation_p.S77F	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	65						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GCCGGGGGCTCCGTGCGGGTGA	0.748000														6			3		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10369690	10369690	+	Missense_Mutation	SNP	G	A	A	rs112133139		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10369690G>A	uc002gmn.3	-	3	359	c.248C>T	c.(247-249)cCc>cTc	p.P83L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	83	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.P83L(2)|p.P82S(1)		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						GTCATATTTGGGAGGGTTCAT	0.438000														81			56		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420887	55420887	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55420887C>T	uc001sgp.4	+	1	1042	c.664C>T	c.(664-666)Ctt>Ttt	p.L222F	NEUROD4_uc021qyr.1_Missense_Mutation_p.L222F	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	222					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AACACATCTCCTTCATCTCAA	0.498000														70			26		0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43197462	43197462	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:43197462G>A	uc003xpz.1	+	10	1394	c.1351G>A	c.(1351-1353)Gat>Aat	p.D451N	POTEA_uc003xqa.1_Missense_Mutation_p.D405N	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	451								p.M450I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACTCAAAATGGATTTTAACGG	0.373000														99			38		0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53185105	53185105	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53185105C>T	uc001say.3	-	6	1486	c.1420G>A	c.(1420-1422)Gcg>Acg	p.A474T		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	474	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCATCCTTCGCCTGCTGTAGA	0.612000														80			42		0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17230663	17230663	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:17230663G>A	uc003wxm.3	-	1	350	c.111C>T	c.(109-111)ttC>ttT	p.F37F		NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	37							protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		AATTTTCCACGAATATGACAT	0.403000														37			8		0	0	1	0	0
NT5M	56953	broad.mit.edu	37	17	17250254	17250254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:17250254C>T	uc002grf.3	+	4	865	c.680C>T	c.(679-681)cCc>cTc	p.P227L	NT5M_uc002grg.3_Missense_Mutation_p.P233L	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	Homo sapiens 5',3'-nucleotidase, mitochondrial (NT5M), nuclear gene encoding mitochondrial protein, mRNA.	227					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						AGCAAGCGGCCCTGCTGAGCT	0.682000														32			15		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502084	90502084	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90502084C>T	uc004app.4	+	3	2717	c.2682C>T	c.(2680-2682)ttC>ttT	p.F894F	FAM75E1_uc004apo.1_Silent_p.F706F	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	894						integral to membrane											TTCCCATTTTCCTGGGAAAAC	0.597000														33			6		0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126531810	126531810	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:126531810G>A	uc011lzm.1	-	1	283	c.69C>T	c.(67-69)ttC>ttT	p.F23F	DENND1A_uc004bny.1_5'UTR|DENND1A_uc004bnz.1_Silent_p.F55F|DENND1A_uc004boa.1_Silent_p.F55F|DENND1A_uc004bob.1_Silent_p.F25F|DENND1A_uc004boc.3_Intron	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	55						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CATAGAAGGGGAAACAAAACT	0.338000														90			35		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561352	9561352	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9561352C>T	uc002wnl.2	-	4	975	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	PAK7_uc002wnk.2_Missense_Mutation_p.E144K|PAK7_uc002wnj.2_Missense_Mutation_p.E144K|PAK7_uc010gby.1_Missense_Mutation_p.E144K	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	144	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.E144K(2)|p.T143T(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGTACTTTTCGGTCGTGTAG	0.512000														190			41		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58209029	58209029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:58209029G>A	uc001vhq.1	+	0	3241	c.2349G>A	c.(2347-2349)atG>atA	p.M783I	PCDH17_uc010aec.1_Missense_Mutation_p.M783I	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	783					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGAACGTCATGAACGTGGTGA	0.587000														32			5		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117710337	117710337	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117710337C>T	uc001twn.2	-	9	2403	c.1692G>A	c.(1690-1692)ctG>ctA	p.L564L	NOS1_uc021ren.1_Silent_p.L228L|NOS1_uc021reo.1_Silent_p.L228L|NOS1_uc001twm.2_Silent_p.L564L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	564					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CGTACCACTTCAGCCCCAGGT	0.607000														64			15		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39452309	39452309	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:39452309C>T	uc001uwv.3	+	21	9019	c.8710C>T	c.(8710-8712)Cag>Tag	p.Q2904*		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2904					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGATCCTGTCCAGAATCTGGG	0.398000														135			36		0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614630	247614630	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247614630G>A	uc010pyx.2	-	0	655	c.655C>T	c.(655-657)Ctt>Ttt	p.L219F		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TAGGAGAGAAGGATGAGAGCC	0.582000														64			11		0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29856066	29856066	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:29856066C>T	uc002dui.3	+	10	2039	c.1887C>T	c.(1885-1887)ccC>ccT	p.P629P	BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Silent_p.P629P|MVP_uc010vea.2_Silent_p.P223P	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	629					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CTGTCTTCCCCCAAAACGGGC	0.657000														145			13		0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67205501	67205501	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:67205501C>T	uc001vik.3	-	3	3873	c.3181G>A	c.(3181-3183)Gaa>Aaa	p.E1061K	PCDH9_uc010aei.3_Non-coding_Transcript|PCDH9_uc001vil.3_Missense_Mutation_p.E1027K|PCDH9_uc010thl.2_Intron|U7_uc021rkh.1_5'Flank	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	1061					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTGCAGCTTTCCTGGGAGCCA	0.517000														40			27		0	0	1	0	0
GJA3	2700	broad.mit.edu	37	13	20717051	20717051	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:20717051G>A	uc001umx.1	-	1	549	c.377C>T	c.(376-378)cCg>cTg	p.P126L	GJA3_uc021rgz.1_Missense_Mutation_p.P126L	NM_021954	NP_068773	Q9Y6H8	CXA3_HUMAN	Homo sapiens gap junction protein, alpha 3, 46kDa (GJA3), mRNA.	126					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		ATTGTCCTGCGGTGGCTCCTT	0.632000														8			3		0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15113846	15113846	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15113846G>A	uc001int.2	+	7	1038	c.784G>A	c.(784-786)Gga>Aga	p.G262R	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.G209R	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	209					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						ATGTTTTGTTGGATCTGAAGA	0.323000														98			42		0	0	1	0	0
CDKN2AIP	55602	broad.mit.edu	37	4	184366211	184366211	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:184366211C>T	uc003ivp.1	+	0	423	c.261C>T	c.(259-261)ttC>ttT	p.F87F	CDKN2AIP_uc003ivq.1_5'UTR	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	Homo sapiens CDKN2A interacting protein (CDKN2AIP), mRNA.	87					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		ACCACGTCTTCCTCGGGTGCC	0.687000														77			30		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27343200	27343200	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:27343200G>A	uc003cdt.2	-	13	1429	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F		NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	385							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTTGAAGTGAGAAAGTATTTT	0.353000														11			3		0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1743171	1743171	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:1743171G>A	uc004cqd.3	+	3	470	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	ASMT_uc010ncy.3_Missense_Mutation_p.R85Q|ASMT_uc004cqe.3_Missense_Mutation_p.R85Q	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	85					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCTTTCTATCGAAACACAGAG	0.547000														194			76		0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105459626	105459626	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:105459626C>T	uc003yly.4	-	2	658	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	177					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)			GAGAAGGCTTCGTACAGCTCC	0.428000														65			16		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155450803	155450803	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:155450803C>T	uc003qqb.3	+	5	1719	c.446C>T	c.(445-447)tCc>tTc	p.S149F	TIAM2_uc003qqe.3_Missense_Mutation_p.S149F	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	149					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCATTGCCTCCACCCCACCG	0.572000														25			15		0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12192799	12192799	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:12192799G>A	uc003bwm.3	+	7	899	c.735G>A	c.(733-735)caG>caA	p.Q245Q	SYN2_uc003bwl.1_Silent_p.Q245Q|SYN2_uc003bwn.3_5'UTR	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	249					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TCATTGAACAGACATACTACC	0.438000														29			7		0	0	1	0	0
ELOVL2	54898	broad.mit.edu	37	6	10995328	10995328	+	Silent	SNP	C	T	T	rs141887901		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:10995328C>T	uc003mzp.4	-	4	578	c.417G>A	c.(415-417)acG>acA	p.T139T		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA.	139					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TAATCTGACTCGTTTTTTTCC	0.358000														110			49		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477426	110477426	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110477426C>T	uc003yne.3	+	48	8469	c.8365C>T	c.(8365-8367)Cgc>Tgc	p.R2789C		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2789					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			GGCTGGCTTTCGCTGGGAACA	0.393000										HNSCC(38;0.096)				49			27		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33540299	33540299	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:33540299G>A	uc021vft.1	+	23	3716	c.3693G>A	c.(3691-3693)caG>caA	p.Q1231Q	LTBP1_uc002rou.3_Silent_p.Q905Q|LTBP1_uc002rov.3_Silent_p.Q852Q|LTBP1_uc010ymz.2_Silent_p.Q905Q|LTBP1_uc010yna.2_Silent_p.Q852Q|LTBP1_uc010ynb.2_Silent_p.Q171Q	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1231	EGF-like 12; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCTGCCAGCAGGGTTTCTCAA	0.428000														62			43		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49166321	49166321	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49166321G>A	uc001rsh.4	-	15	3287	c.2627C>T	c.(2626-2628)tCt>tTt	p.S876F	ADCY6_uc001rsi.4_Missense_Mutation_p.S823F|ADCY6_uc001rsj.4_Missense_Mutation_p.S876F|ADCY6_uc010slw.1_Missense_Mutation_p.S107F|MIR4701_uc021qxl.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	876					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CTCATTGGAAGAAGCCCTGGT	0.512000														42			8		0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30674574	30674574	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30674574G>A	uc002wxh.3	+	8	1216	c.979G>A	c.(979-981)Gag>Aag	p.E327K	HCK_uc010gdy.3_Missense_Mutation_p.E307K|HCK_uc021wbv.1_Missense_Mutation_p.E306K|HCK_uc002wxi.3_Missense_Mutation_p.E305K	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	327	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGTCACCAAGGAGCCCATCTA	0.592000														54			20		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333557	70333557	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70333557C>T	uc001oqc.3	-	20	2755	c.2643G>A	c.(2641-2643)gaG>gaA	p.E881E	SHANK2_uc010rqn.2_Silent_p.E357E|SHANK2_uc001opz.3_Silent_p.E352E|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	568					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACATCCCCTTCTCCCTCATCA	0.577000														39			21		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155287561	155287561	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155287561C>T	uc003inw.2	-	4	495	c.495G>A	c.(493-495)gtG>gtA	p.V165V	DCHS2_uc003inx.2_Silent_p.V759V	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	165	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCTCCAGGTCCACACGAACAA	0.468000														17			10		0	0	1	0	0
RGS14	10636	broad.mit.edu	37	5	176798994	176798994	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176798994C>T	uc003mgh.3	+	14	1804	c.1622C>T	c.(1621-1623)tCc>tTc	p.S541F	RGS14_uc003mgf.3_Missense_Mutation_p.S540F|RGS14_uc003mgi.3_Missense_Mutation_p.S311F	NM_006480	NP_006471	O43566	RGS14_HUMAN	Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.	540					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	PML body|cell junction|centrosome|dendritic spine|microtubule|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCCCAGCTCCGAGGAGACC	0.632000														344			35		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149460492	149460492	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149460492C>T	uc003lrl.3	-	1	340	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	CSF1R_uc011dcd.2_5'UTR|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.E49K|CSF1R_uc011dce.1_Missense_Mutation_p.E49K|CSF1R_uc011dcf.2_Missense_Mutation_p.E49K	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	49	Ig-like C2-type 1.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCATCCCATTCCACGCTGCCA	0.587000														24			13		0	0	1	0	0
PARK7	11315	broad.mit.edu	37	1	8025434	8025434	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:8025434C>T	uc001aou.4	+	2	246	c.141C>T	c.(139-141)agC>agT	p.S47S	PARK7_uc001aox.4_Silent_p.S47S|PARK7_uc001aov.4_Silent_p.S47S	NM_001123377	NP_009193	Q99497	PARK7_HUMAN	Homo sapiens parkinson protein 7 (PARK7), transcript variant 2, mRNA.	47					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		TACAGTGTAGCCGTGATGTGG	0.403000														55			29		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21328398	21328398	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:21328398C>T	uc002ztj.2	+	4	620	c.402C>T	c.(400-402)tgC>tgT	p.C134C	LZTR1_uc002ztk.2_Silent_p.C134C|LZTR1_uc002ztl.2_Silent_p.C140C|LZTR1_uc011ahx.1_Silent_p.C122C	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGGCGCCTGCTTCAACATCA	0.662000														21			10		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101018320	101018320	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:101018320T>A	uc003yjb.1	-	15	2574	c.2379A>T	c.(2377-2379)gaA>gaT	p.E793D	RGS22_uc003yja.1_Missense_Mutation_p.E612D|RGS22_uc003yjc.1_Missense_Mutation_p.E781D|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.E182D	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	793					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACTGTCGAGTTTCTTCCACCA	0.373000														47			18		0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65517349	65517349	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:65517349C>T	uc003xvj.2	-	4	1327	c.1123G>A	c.(1123-1125)Gat>Aat	p.D375N		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	375					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGAGTCAAATCCTCCTCAACA	0.428000														51			18		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90459638	90459638	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:90459638G>A	uc003kju.3	+	89	18938	c.18842G>A	c.(18841-18843)gGc>gAc	p.G6281D	GPR98_uc003kjt.3_Missense_Mutation_p.G3987D|GPR98_uc003kjw.3_Missense_Mutation_p.G1942D|GPR98_uc003kjx.3_Missense_Mutation_p.G309D	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	6281					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTGGTCAAGGCAGCCAGGAG	0.488000														12			4		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137657	63137657	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63137657C>T	uc001nww.3	+	0	397	c.129C>T	c.(127-129)ttC>ttT	p.F43F	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.	43					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TCACTGCATTCATACCTGGCC	0.483000														175			80		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14766126	14766127	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:14766126_14766127CC>TT	uc001rcd.3	-	26	3283_3284	c.3146_3147GG>AA	c.(3145-3147)cgg>cAA	p.R1049Q		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	1049					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	p.R1049L(2)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGCTGGCTACCCGTCTGGGTTT	0.431000														250			68		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121498412	121498412	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121498412C>T	uc001pxx.3	+	46	6642	c.6513C>T	c.(6511-6513)gcC>gcT	p.A2171A	SORL1_uc010rzp.1_Silent_p.A1017A|SORL1_uc010rzq.1_Silent_p.A786A	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2171					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCTTCACCGCCTTCGCCAACA	0.607000														37			14		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207870911	207870911	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207870911C>T	uc001hga.4	+	5	1047	c.926C>T	c.(925-927)tCa>tTa	p.S309L	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	309	Sushi 5.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GACAACTTTTCACCCGGGCAG	0.547000														200			69		0	0	1	0	0
RBFOX2	23543	broad.mit.edu	37	22	36142017	36142017	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:36142017G>A	uc003aon.4	-	12	1376	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	RBFOX2_uc003aom.4_Missense_Mutation_p.P329S|RBFOX2_uc003aol.4_Missense_Mutation_p.P347S|RBFOX2_uc003aoj.4_Missense_Mutation_p.P351S|RBFOX2_uc003aok.4_Silent_p.T334T|RBFOX2_uc003aoh.4_Silent_p.T337T|RBFOX2_uc010gwu.3_Silent_p.T337T|RBFOX2_uc003aoo.4_Missense_Mutation_p.P421S|RBFOX2_uc021wok.1_Non-coding_Transcript	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 2 (RBFOX2), transcript variant 5, mRNA.	361					RNA splicing|estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation	cytoplasm|nucleus	RNA binding|nucleotide binding|transcription corepressor activity|transcription factor binding			endometrium(4)|large_intestine(7)|lung(7)	18						GCATGGTAGGGGTCGGCTGTG	0.403000														376			122		0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111304210	111304210	+	Silent	SNP	G	A	A	rs139540088	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:111304210G>A	uc003dxw.3	+	5	1010	c.840G>A	c.(838-840)acG>acA	p.T280T	CD96_uc003dxv.3_Silent_p.T264T|CD96_uc003dxx.3_Silent_p.T264T|CD96_uc010hpy.1_Silent_p.T264T	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	280	Ig-like C2-type.		T -> M (in CLSYN).		cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ATAACTCCACGGATGTCTTGG	0.408000									Opitz Trigonocephaly syndrome					49			20		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50111267	50111267	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:50111267C>T	uc003jon.4	+	16	1758	c.1576_splice	c.e16-1	p.P526_splice	PARP8_uc011cpz.2_Splice_Site_p.P418_splice|PARP8_uc003joo.3_Splice_Site_p.P526_splice|PARP8_uc003jop.3_Splice_Site_p.P526_splice	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	526						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CTTTTGTAGCCTACCGTATGT	0.358000														59			14		0	0	1	0	0
P2RX5	5026	broad.mit.edu	37	17	3594945	3594945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3594945G>A	uc002fwi.3	-	1	680	c.281C>T	c.(280-282)cCa>cTa	p.P94L	P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Missense_Mutation_p.P58L|P2RX5_uc002fwk.3_Missense_Mutation_p.P94L|P2RX5_uc002fwj.3_Missense_Mutation_p.P94L|P2RX5_uc002fwl.3_Missense_Mutation_p.P94L|P2RX5_uc002fwm.2_Missense_Mutation_p.P94L	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.	94					nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GACCTGGGCTGGAATGACGTA	0.617000														37			22		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87235216	87235216	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:87235216C>T	uc003ydq.1	-	1	900	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	SLC7A13_uc003ydr.1_Missense_Mutation_p.E259K	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	268						integral to membrane	amino acid transmembrane transporter activity	p.E268K(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GAGAGAATTTCCCTGGGTGTC	0.383000														102			35		0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50574376	50574376	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50574376G>A	uc010qgq.2	-	5	592	c.592C>T	c.(592-594)Ctt>Ttt	p.L198F	DRGX_uc021pqd.1_Missense_Mutation_p.L193F	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	198					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						TAGGTGGGAAGGAAGGAGAGT	0.602000														72			28		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1513989	1513989	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:1513989G>A	uc003skn.2	-	40	5745	c.5644C>T	c.(5644-5646)Ccc>Tcc	p.P1882S		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1882					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)		GCGATCATGGGCAGGTGCCTG	0.726000														28			6		0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768083	121768083	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:121768083C>T	uc003pyr.3	+	1	340	c.90C>T	c.(88-90)ttC>ttT	p.F30F	GJA1_uc011ebo.1_Intron|GJA1_uc011ebp.1_5'UTR|GJA1_uc021zel.1_Silent_p.F30F	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	30					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CAGTACTTTTCATTTTCCGAA	0.532000														61			32		0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54823363	54823363	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54823363C>T	uc002qfe.3	-	3	300	c.180G>A	c.(178-180)ggG>ggA	p.G60G	LILRA5_uc002qff.3_Silent_p.G48G|LILRA5_uc010yev.2_Silent_p.G60G|LILRA5_uc010yew.2_Silent_p.G48G|LILRA5_uc002qfg.1_Silent_p.G60G|LILRA5_uc002qfh.1_Silent_p.G48G	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	60	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACAGAGTTCCCCCGGCTGA	0.612000														88			35		0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46318801	46318801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:46318801G>A	uc010haa.2	-	3	1124	c.997C>T	c.(997-999)Cac>Tac	p.H333Y	WNT7B_uc003bgo.2_Missense_Mutation_p.H329Y	NM_058238	NP_478679	P56706	WNT7B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7B (WNT7B), mRNA.	329					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCACCAGTGGAATTTGCAG	0.657000														73			27		0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183711395	183711395	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:183711395C>T	uc001gqm.3	+	1	564	c.103C>T	c.(103-105)Cga>Tga	p.R35*	RGL1_uc010pof.1_5'UTR|RGL1_uc010pog.2_Nonsense_Mutation_p.R35*|RGL1_uc010poh.2_Nonsense_Mutation_p.R35*	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	0					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AGATCATGTTCGAATATGGGA	0.423000														132			32		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124389907	124389907	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124389907A>G	uc001lgk.1	+	44	5645	c.5539A>G	c.(5539-5541)Ata>Gta	p.I1847V	DMBT1_uc001lgl.1_Missense_Mutation_p.I1837V|DMBT1_uc001lgm.1_Missense_Mutation_p.I1219V|DMBT1_uc021qaf.1_Missense_Mutation_p.I1847V|DMBT1_uc021qag.1_Missense_Mutation_p.I1837V|DMBT1_uc021qah.1_Missense_Mutation_p.I1219V|DMBT1_uc009xzz.1_Missense_Mutation_p.I1847V|DMBT1_uc010qtx.1_Missense_Mutation_p.I567V|DMBT1_uc009yab.1_Missense_Mutation_p.I550V|DMBT1_uc009yac.1_Missense_Mutation_p.I141V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1847	CUB 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TACCAGGCAAATATTTACATC	0.408000														51			26		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046907	9046907	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9046907G>A	uc002mkp.3	-	4	34928	c.34724C>T	c.(34723-34725)gCc>gTc	p.A11575V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11577	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						GAGCCACGTGGCTGTAGTCTC	0.517000														22			8		0	0	1	0	0
CPLX3	594855	broad.mit.edu	37	15	75122545	75122545	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:75122545C>T	uc002ayu.1	+	2	1555	c.327C>T	c.(325-327)atC>atT	p.I109I		NM_001030005	NP_001025176	Q8WVH0	CPLX3_HUMAN	Homo sapiens complexin 3 (CPLX3), mRNA.	109						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						CCAAGATGATCGAGGAGGACA	0.617000														97			17		0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44278616	44278616	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44278616G>A	uc002oxl.3	-	2	807	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_002250	NP_002241	O15554	KCNN4_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA.	137					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	AGGGCTGCGGGGAGGTCAGCG	0.731000											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			5		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9036102	9036102	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:9036102G>A	uc003brf.1	-	18	3009	c.2333C>T	c.(2332-2334)tCg>tTg	p.S778L	SRGAP3_uc003brg.1_Missense_Mutation_p.S754L	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	778	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.S778S(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCAGTCCTCCGAGGCGCGGTG	0.587000			T	RAF1	pilocytic astrocytoma									80			29		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50279643	50279643	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:50279643C>T	uc001zxu.3	-	9	835	c.693G>A	c.(691-693)ctG>ctA	p.L231L	ATP8B4_uc010ber.3_Silent_p.L104L|ATP8B4_uc010ufd.2_Silent_p.L104L|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	231					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			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGCAGCCTCTCAGGATTATCT	0.448000														98			29		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82835440	82835440	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:82835440C>T	uc003kii.3	+	7	6974	c.6618C>T	c.(6616-6618)ttC>ttT	p.F2206F	VCAN_uc003kij.3_Silent_p.F1219F|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.F870F	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2206	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CACATTTTTTCTTAGCTACTG	0.373000														98			35		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165791	172165791	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:172165791C>T	uc003fib.2	-	0	456	c.413G>A	c.(412-414)aGc>aAc	p.S138N	GHSR_uc011bpv.2_Missense_Mutation_p.S138N	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	138					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCGCTCGACGCTCAGCGCTGT	0.622000														28			8		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644428	169644428	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:169644428C>T	uc003fgd.3	+	5	645	c.378C>T	c.(376-378)ttC>ttT	p.F126F	SAMD7_uc003fge.3_Silent_p.F126F|SAMD7_uc011bpo.2_Silent_p.F27F	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	126										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GGATACCCTTCCTCTATGGCT	0.502000														76			32		0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	32914070	32914070	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:32914070C>T	uc003amx.3	-	11	1732	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Missense_Mutation_p.E523K|SYN3_uc011amc.1_Missense_Mutation_p.E158K	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	524	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTGGACTCTTCACCCTGCTGG	0.602000														71			32		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84520207	84520207	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:84520207G>A	uc004eeq.3	+	5	1748	c.862G>A	c.(862-864)Gag>Aag	p.E288K	ZNF711_uc004eep.3_Missense_Mutation_p.E288K|ZNF711_uc004eeo.3_Missense_Mutation_p.E288K|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	288					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AATGCAGCGGGAGAAGATGGT	0.418000														29			41		0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39817345	39817345	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:39817345C>T	uc010gnw.3	-	3	534	c.239G>A	c.(238-240)aGc>aAc	p.S80N	ERG_uc021wjd.1_Missense_Mutation_p.S80N|ERG_uc002yxa.3_Missense_Mutation_p.S73N|ERG_uc011aek.2_Intron|ERG_uc010gnv.3_Intron|ERG_uc010gnx.3_Missense_Mutation_p.S80N|ERG_uc011ael.2_Missense_Mutation_p.S80N|ERG_uc002yxb.3_Missense_Mutation_p.S80N|ERG_uc011aem.1_Missense_Mutation_p.S73N|ERG_uc002yxc.4_Missense_Mutation_p.S80N	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	80					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				ATTCACCTGGCTAGGGTTACA	0.527000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									35			13		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22892237	22892237	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22892237G>A	uc002zwf.3	-	3	1020	c.864C>T	c.(862-864)ttC>ttT	p.F288F	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Silent_p.F272F|PRAME_uc010gtr.3_Silent_p.F288F|PRAME_uc002zwg.3_Silent_p.F288F|PRAME_uc002zwh.3_Silent_p.F288F|PRAME_uc002zwi.3_Silent_p.F288F|PRAME_uc002zwj.3_Silent_p.F288F|PRAME_uc002zwk.3_Silent_p.F288F	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	288					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ACTGAGAGGTGAACTGGGCGA	0.522000														66			27		0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136320418	136320418	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:136320418C>T	uc004cdv.4	+	24	3705	c.3261C>T	c.(3259-3261)tcC>tcT	p.S1087S	ADAMTS13_uc004cdp.4_Silent_p.S314S|ADAMTS13_uc004cdt.1_Silent_p.S1087S|ADAMTS13_uc004cdu.1_Silent_p.S1056S|ADAMTS13_uc004cdw.4_Silent_p.S1087S|ADAMTS13_uc004cdx.4_Silent_p.S1056S|ADAMTS13_uc004cdz.4_Silent_p.S757S|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.4_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	1087	TSP type-1 8.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCTCTGTTTCCTGTGGGGATG	0.617000														167			20		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3102809	3102809	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3102809C>T	uc001akf.3	+	1	240	c.158C>T	c.(157-159)cCc>cTc	p.P53L	PRDM16_uc001ake.3_Missense_Mutation_p.P53L|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.P53L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	53					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCACCGTCCCCCTTCCCCACC	0.647000			T	EVI1	"""MDS, AML"""									102			13		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5235236	5235236	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:5235236G>A	uc003jdl.3	+	12	2098	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	ADAMTS16_uc003jdk.1_Missense_Mutation_p.E654K|ADAMTS16_uc010itk.1_Non-coding_Transcript	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	654	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A653A(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCAGTGTGCCGAGCACAACAG	0.527000														63			23		0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41166002	41166002	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:41166002C>T	uc010jxm.1	-	1	400	c.221G>A	c.(220-222)gGg>gAg	p.G74E		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	74	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	p.G74V(1)|p.Q73K(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTAGCGGGGCCCTTTCACCCA	0.577000														128			48		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190234049	190234050	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:190234049_190234050CC>TT	uc001gse.1	-	3	795_796	c.563_564GG>AA	c.(562-564)agg>aAA	p.R188K	FAM5C_uc010pot.1_Missense_Mutation_p.R86K	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	188						extracellular region		p.R188G(1)|p.D187E(1)		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)					GGGTGCTGTCCCTGTCAATGAA	0.441000														99			43		0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51020884	51020884	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51020884C>T	uc002pss.3	-	2	2223	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K	ASPDH_uc002psr.4_5'Flank	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	696						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AGCAGAGGTTCGTGGATGGAG	0.697000														25			10		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47514238	47514238	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47514238G>A	uc001cqt.3	+	10	1458	c.1208_splice	c.e10-1	p.G403_splice	CYP4X1_uc001cqr.3_Splice_Site_p.G402_splice|CYP4X1_uc001cqs.3_Splice_Site_p.G338_splice	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	403						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CTTTCTTAGGGATCACCGTGG	0.428000														267			73		0	0	1	0	0
KLC2	64837	broad.mit.edu	37	11	66026257	66026257	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66026257C>T	uc010rov.1	+	1	435	c.192C>T	c.(190-192)tcC>tcT	p.S64S	KLC2_uc010row.1_Silent_p.S64S|KLC2_uc001ohb.2_Silent_p.S64S|KLC2_uc010rox.1_Silent_p.S64S|KLC2_uc001ohc.2_Silent_p.S64S|KLC2_uc001ohd.2_Silent_p.S64S|KLC2_uc001ohe.1_5'Flank	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	64					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TGCGTCGCTCCCTGGAAGCCA	0.662000											OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			12		0	0	1	0	0
FSCN2	25794	broad.mit.edu	37	17	79495959	79495959	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:79495959C>T	uc010wuo.2	+	0	543	c.402C>T	c.(400-402)caC>caT	p.H134H	FSCN2_uc010wup.2_Silent_p.H134H	NM_001077182	NP_001070650	O14926	FSCN2_HUMAN	Homo sapiens fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2, mRNA.	134					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGACCGTGCACCTGGCCATCC	0.711000														8			3		0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20976437	20976437	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:20976437C>T	uc003zog.1	+	37	4514	c.4151C>T	c.(4150-4152)cCt>cTt	p.P1384L	FOCAD_uc003zoh.1_Missense_Mutation_p.P820L	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1384						integral to membrane	binding										TCTGTGCCTCCTTCCCTTCTT	0.418000														245			25		0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891358	30891358	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:30891358G>A	uc003aid.2	-	4	406	c.306C>T	c.(304-306)atC>atT	p.I102I	SEC14L4_uc011akz.1_Silent_p.I102I|SEC14L4_uc003aie.2_Silent_p.I87I|SEC14L4_uc003aif.2_Silent_p.I48I	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	102	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GGGACCCAATGATGTTGAAGT	0.547000														67			25		0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590235	125590235	+	Silent	SNP	G	A	A	rs138487103		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:125590235G>A	uc010inw.3	-	3	5235	c.4197C>T	c.(4195-4197)tcC>tcT	p.S1399S	ANKRD50_uc011cgo.2_Silent_p.S1220S	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	1399										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTGTCTCTGAGGAAGGGTATC	0.413000														68			28		0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71256160	71256160	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:71256160C>T	uc010ukf.2	+	8	1131	c.825C>T	c.(823-825)tcC>tcT	p.S275S	LRRC49_uc002asu.3_Silent_p.S260S|LRRC49_uc002asx.3_Silent_p.S226S|LRRC49_uc002asw.3_Silent_p.S270S|LRRC49_uc002asy.3_5'UTR|LRRC49_uc002asz.3_Silent_p.S242S	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	270						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ACTCTTCTTCCCTCTCGGACA	0.433000														332			53		0	0	1	0	0
APOF	319	broad.mit.edu	37	12	56755842	56755842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56755842G>A	uc001sle.1	-	1	202	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S		NM_001638	NP_001629	Q13790	APOF_HUMAN	Homo sapiens apolipoprotein F (APOF), mRNA.	50					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding	p.P50L(2)|p.P50P(1)		breast(1)|lung(3)|prostate(1)|stomach(1)	6						AAGGACAAGGGAAAGTGCATC	0.517000														118			23		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160786439	160786439	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160786439C>T	uc001fwu.3	+	4	1178	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	LY9_uc001fwv.3_Silent_p.I376I|LY9_uc001fww.3_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.3_Silent_p.I28I	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	376	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGGATGGCATCTGCAGGATCA	0.592000														21			8		0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16067687	16067687	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:16067687G>A	uc003jfo.2	-	3	1315	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	MARCH11_uc010itw.1_Nonsense_Mutation_p.Q124*	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	368						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						TAGCCACACTGAAACCTTGGT	0.498000														130			47		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6244522	6244522	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:6244522G>A	uc002kmz.4	-	5	445	c.285C>T	c.(283-285)ccC>ccT	p.P95P	L3MBTL4_uc002kmy.4_Silent_p.P95P|L3MBTL4_uc010dkt.3_Silent_p.P95P	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	95					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ATGGATGTCGGGGATCAATGC	0.418000														149			68		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411151	126411151	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126411151C>T	uc003ifj.4	+	16	13174	c.13174C>T	c.(13174-13176)Ccc>Tcc	p.P4392S	FAT4_uc011cgp.2_Missense_Mutation_p.P2633S|FAT4_uc003ifi.1_Missense_Mutation_p.P1869S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4392	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAAAACAGATCCCTCAGTGAA	0.512000														243			104		0	0	1	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37962694	37962694	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37962694C>T	uc003asz.4	+	1	741	c.338C>T	c.(337-339)tCc>tTc	p.S113F		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	113					positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCGGCCATCTCCCCCATCATC	0.682000														109			40		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28648063	28648063	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28648063C>T	uc002kwl.4	-	15	3078	c.2624G>A	c.(2623-2625)cGa>cAa	p.R875Q	DSC2_uc002kwk.4_3'UTR	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	875					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTCTTCTTGTCGTTCACTGCA	0.413000														79			33		0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60493656	60493656	+	Missense_Mutation	SNP	G	A	A	rs140338043	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:60493656G>A	uc010wpc.2	+	11	1510	c.1439G>A	c.(1438-1440)aGa>aAa	p.R480K	EFCAB3_uc002izu.2_Missense_Mutation_p.R428K	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	428							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GGAAGAAAAAGAAAACGGAAA	0.333000														104			33		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873438	55873438	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55873438G>A	uc010riy.2	+	0	920	c.920G>A	c.(919-921)aGa>aAa	p.R307K		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q306Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GTCATGCAGAGAAGACAGGAC	0.353000										HNSCC(53;0.14)				121			42		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76472668	76472668	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:76472668C>T	uc003yaq.3	+	9	1342	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S	HNF4G_uc003yar.3_Missense_Mutation_p.P395S	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	358					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ACTTTTAGGTCCCATGTCAAC	0.393000														42			11		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666583	167666583	+	Missense_Mutation	SNP	G	A	A	rs142342977	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167666583G>A	uc001gem.3	+	5	909	c.722G>A	c.(721-723)aGg>aAg	p.R241K	RCSD1_uc010pli.2_Missense_Mutation_p.R211K	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	241	RCSD.									NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCTCTGAGGAGGTCACCCAGC	0.617000														31			13		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808058	18808058	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:18808058G>A	uc001bax.3	+	0	635	c.583G>A	c.(583-585)Gag>Aag	p.E195K	KLHDC7A_uc009vpg.3_5'UTR	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	195						integral to membrane		p.E195K(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TAAACCCCGTGAGCATCCAGG	0.612000														51			17		0	0	1	0	0
C14orf133	63894	broad.mit.edu	37	14	77910637	77910637	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:77910637G>A	uc001xtt.2	-	8	969	c.552C>T	c.(550-552)ctC>ctT	p.L184L	C14orf133_uc001xtu.2_Silent_p.L184L|C14orf133_uc001xtv.2_Silent_p.L184L|C14orf133_uc021rwu.1_Silent_p.L184L|C14orf133_uc010tvj.2_Silent_p.L135L	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.	184					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding							Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCTCTTCTAGGAGTTGTAGTT	0.383000														56			21		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64630177	64630177	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:64630177C>T	uc001xgl.3	+	88	16587	c.16357C>T	c.(16357-16359)Ctg>Ttg	p.L5453L	SYNE2_uc001xgm.3_Silent_p.L5453L|SYNE2_uc010apy.3_Silent_p.L1838L|SYNE2_uc001xgn.3_Silent_p.L415L|SYNE2_uc021rui.1_Silent_p.L415L|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_5'UTR	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5453					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCCAGTGTCCTGGATCGACT	0.527000														80			19		0	0	1	0	0
C10orf81	79949	broad.mit.edu	37	10	115526432	115526432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115526432C>T	uc001lat.2	+	2	723	c.161C>T	c.(160-162)tCc>tTc	p.S54F	C10orf81_uc009xyc.2_5'UTR|C10orf81_uc001lar.2_Missense_Mutation_p.S60F|C10orf81_uc001las.2_Intron	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	54	PH.									central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		TTTAGTCTTTCCTATTATAAA	0.338000														86			32		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58567466	58567466	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:58567466C>T	uc002ybe.3	+	9	1628	c.1317C>T	c.(1315-1317)gtC>gtT	p.V439V	CDH26_uc002ybf.1_Silent_p.V19V|CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	439	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CAAATTGGGTCAGCGTCGACA	0.383000														40			11		0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1719914	1719914	+	Silent	SNP	C	T	T	rs150074892		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:1719914C>T	uc004cqa.3	+	4	1711	c.1515C>T	c.(1513-1515)gcC>gcT	p.A505A	AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.	505					B cell activation|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|signal transduction	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						ACCCAGAGGCCGACGGCGCTC	0.716000														6			4		0	0	1	0	0
TRIM40	135644	broad.mit.edu	37	6	30104940	30104940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30104940G>A	uc003npk.2	+	1	513	c.127G>A	c.(127-129)Gag>Aag	p.E43K	TRIM40_uc003npm.2_Missense_Mutation_p.E43K	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	Homo sapiens tripartite motif containing 40 (TRIM40), mRNA.	43						intracellular	zinc ion binding			ovary(1)	1						ACAGCATGTGGAGAAGGCCTC	0.612000														47			16		0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	91996156	91996156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:91996156G>A	uc004aqo.1	-	15	2124	c.1552C>T	c.(1552-1554)Ccc>Tcc	p.P518S	SEMA4D_uc011ltm.1_Missense_Mutation_p.P518S|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.P518S	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	518	PSI.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GCGCAGTAGGGGTCCCGCGCC	0.687000														13			10		0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067213	18067213	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:18067213C>T	uc003stz.3	-	0	274	c.193G>A	c.(193-195)Gac>Aac	p.D65N		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	65					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.N64N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					ATTAGACTGTCGTTGATTTCG	0.478000														286			120		0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758549	5758549	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5758549C>T	uc001mbt.2	+	0	872	c.803C>T	c.(802-804)tCa>tTa	p.S268L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GTAGTGATTTCAGTGACTCAT	0.443000														276			107		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231120199	231120199	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:231120199G>A	uc002vql.3	+	11	1307	c.1192G>A	c.(1192-1194)Gga>Aga	p.G398R	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Missense_Mutation_p.G364R|SP140_uc002vqn.3_Missense_Mutation_p.G284R|SP140_uc002vqm.3_Missense_Mutation_p.G338R|SP140_uc010fxl.3_Intron	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	398					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AATGTGTGATGGAGAAGAGCG	0.527000														72			22		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23896924	23896924	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23896924C>T	uc001wjx.3	-	15	1864	c.1758G>A	c.(1756-1758)gtG>gtA	p.V586V		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	586	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.V586M(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGTTGTAGTCCACGATGCCGG	0.532000														70			26		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17554814	17554814	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17554814C>T	uc001mnf.3	-	1	201	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	USH1C_uc001mne.3_Missense_Mutation_p.R31Q|USH1C_uc009yhb.3_Missense_Mutation_p.R31Q|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_5'UTR	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	31					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.R31R(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GTGGTACATTCGCAGCACATC	0.507000														75			29		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163250956	163250956	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:163250956C>T	uc002uch.2	-	11	2882	c.2653G>A	c.(2653-2655)Gga>Aga	p.G885R		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	885					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CAGTTGTCTCCTTCTGAATCA	0.333000														68			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107048774	107048774	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:107048774C>T	uc021ser.1	-	169		c.7256G>A								Parts of antibodies, mostly variable regions.																		ATCGGCCCTTCACGGAGTCTG	0.537000														412			61		0	0	1	0	0
C20orf79	140856	broad.mit.edu	37	20	18794508	18794508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:18794508C>T	uc002wrk.3	+	0	139	c.49C>T	c.(49-51)Cct>Tct	p.P17S	C20orf78_uc002wrj.2_Intron	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN	Homo sapiens chromosome 20 open reading frame 79 (C20orf79), mRNA.	17							sterol binding			NS(1)|breast(1)|large_intestine(2)|lung(4)|skin(4)	12						AGAGGATGGACCTCTGGTGGG	0.522000														49			11		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545895	234545895	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234545895G>A	uc002vur.3	+	0	773	c.727G>A	c.(727-729)Gat>Aat	p.D243N	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.D243N	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	246					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CACGGCATATGATCTCTACAG	0.433000														565			50		0	0	1	0	0
DGAT2	84649	broad.mit.edu	37	11	75509332	75509332	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:75509332C>T	uc001oxa.3	+	6	1129	c.870C>T	c.(868-870)ttC>ttT	p.F290F	DGAT2_uc001oxb.3_Silent_p.F247F	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA.	290					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					AGGTGATCTTCGAGGAGGGCT	0.537000														159			69		0	0	1	0	0
SLC46A3	283537	broad.mit.edu	37	13	29278138	29278138	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29278138G>A	uc001usj.3	-	4	1785	c.1243C>T	c.(1243-1245)Cct>Tct	p.P415S	SLC46A3_uc001usg.3_Missense_Mutation_p.P340S|SLC46A3_uc001usi.3_Missense_Mutation_p.P415S|SLC46A3_uc001ush.3_Missense_Mutation_p.P415S	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	415					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GTGAAGCCAGGGTACCAAGCA	0.408000														51			17		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17690098	17690098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17690098G>A	uc001baj.2	+	15	1868	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	614					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CTGCCTGGAGGAGAAGGTGTG	0.617000														24			11		0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24902212	24902212	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:24902212G>A	uc002dmu.3	+	8	918	c.687G>A	c.(685-687)atG>atA	p.M229I	SLC5A11_uc002dms.3_Missense_Mutation_p.M165I|SLC5A11_uc010vcd.2_Missense_Mutation_p.M194I|SLC5A11_uc002dmt.3_Intron|SLC5A11_uc010vce.2_Missense_Mutation_p.M159I|SLC5A11_uc010bxt.3_Missense_Mutation_p.M165I	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	229					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTGGTGGGATGGAAGGACTGA	0.547000														164			53		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45923763	45923763	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:45923763C>T	uc010gzz.3	+	4	619	c.472C>T	c.(472-474)Cag>Tag	p.Q158*	FBLN1_uc003bgg.1_Nonsense_Mutation_p.Q120*|FBLN1_uc003bgh.3_Nonsense_Mutation_p.Q120*|FBLN1_uc003bgi.1_Nonsense_Mutation_p.Q120*|FBLN1_uc003bgj.1_Nonsense_Mutation_p.Q120*	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	120					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GAGGGCGGCCCAGGCCCAGGG	0.627000														116			20		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152086448	152086448	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152086448G>A	uc009wne.1	-	1	381	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	TCHH_uc001ezp.2_Missense_Mutation_p.L37F	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	37	EF-hand 1.|S-100-like.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCTTTCAAGGAGGTTCTTC	0.403000														125			21		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902119	51902119	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:51902119C>T	uc002iua.2	+	0	1881	c.1725C>T	c.(1723-1725)tcC>tcT	p.S575S	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	575					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGAAATGTCCCTTCAGAGGG	0.403000														71			20		0	0	1	0	0
LOC729020	729020	broad.mit.edu	37	10	105006081	105006081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105006081G>A	uc009xxi.2	+	0	438	c.328G>A	c.(328-330)Gag>Aag	p.E110K	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	110					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										AGACATTCGGGAGAATGGGAT	0.463000														122			10		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412022	19412022	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19412022G>A	uc010tcj.1	-	0		c.34088C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ATTAGCCTGAGATATTTCTTG	0.393000														100			43		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3645678	3645678	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3645678G>A	uc002cvp.2	-	8	2568	c.1941C>T	c.(1939-1941)ccC>ccT	p.P647P		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	647	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GAAGGCCGCCGGGCACCACGT	0.622000								Direct reversal of damage						38			14		0	0	1	0	0
KPNA6	23633	broad.mit.edu	37	1	32635512	32635512	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32635512C>T	uc010ogy.2	+	12	1316	c.1289C>T	c.(1288-1290)cCc>cTc	p.P430L	KPNA6_uc001bug.3_Missense_Mutation_p.P425L|KPNA6_uc001buh.3_Missense_Mutation_p.P200L|KPNA6_uc010ogx.2_Missense_Mutation_p.P422L	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	425					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGCATCAAACCCCTATGTGAC	0.542000														144			50		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2350132	2350132	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2350132C>T	uc002cpy.1	-	12	2197	c.1485G>A	c.(1483-1485)ggG>ggA	p.G495G	ABCA3_uc010bsk.1_Silent_p.G437G|ABCA3_uc010bsl.1_Silent_p.G495G	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	495					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCCTTGGCTTCCCACACCAAT	0.547000														83			42		0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198469	170198469	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:170198469C>T	uc003fgz.2	-	6	1918	c.1602G>A	c.(1600-1602)aaG>aaA	p.K534K	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	534						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CAATCAGCTTCTTTAACTTGA	0.507000														100			39		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179475048	179475048	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179475048C>T	uc021vsy.1	-	219	43726	c.43501G>A	c.(43501-43503)Gaa>Aaa	p.E14501K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E8196K|TTN_uc021vta.1_Missense_Mutation_p.E8129K|TTN_uc021vtb.1_Missense_Mutation_p.E8004K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15428	Fibronectin type-III 4.						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)			TCTGGAGGTTCCCAAGTTAAC	0.398000														114			53		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54914924	54914924	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54914924G>A	uc001sgc.4	+	17	1859	c.1780G>A	c.(1780-1782)Ggt>Agt	p.G594S	NCKAP1L_uc010sox.2_Missense_Mutation_p.G136S|NCKAP1L_uc010soy.2_Missense_Mutation_p.G544S	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	594					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CAAGAACCATGGTCTTCACCA	0.537000														108			12		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2820136	2820136	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2820136G>A	uc022aqr.1	-	60	9870	c.9480C>T	c.(9478-9480)atC>atT	p.I3160I	CSMD1_uc011kwj.2_Silent_p.I2490I|CSMD1_uc010lrg.3_Silent_p.I1052I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3161	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTCTGCGGGGATGCCAGGGT	0.493000														11			12		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170729	207170729	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:207170729G>A	uc002vbp.2	+	4	1727	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	493							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAGTAGTTCTGAAACGAATTT	0.393000														51			12		0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18188342	18188342	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18188342C>T	uc002nhx.1	-	5	704	c.653G>A	c.(652-654)aGc>aAc	p.S218N	IL12RB1_uc002nhw.1_Missense_Mutation_p.S178N|IL12RB1_uc010xqb.1_Missense_Mutation_p.S178N|IL12RB1_uc002nhy.3_Missense_Mutation_p.S178N	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	178	Fibronectin type-III 2.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCATGGGCTGCTGGGTGTCCG	0.597000														17			8		0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113999136	113999136	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113999136C>T	uc010yxt.2	-	6	935	c.769G>A	c.(769-771)Ggc>Agc	p.G257S	PAX8_uc010yxu.2_Missense_Mutation_p.G257S|PAX8_uc002tjm.3_Missense_Mutation_p.G257S|PAX8_uc002tjn.3_Missense_Mutation_p.G257S|PAX8_uc010fku.1_Missense_Mutation_p.G257S|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	257					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						ACCTGCTCGCCTTTGGTGTGG	0.617000			T	PPARG	follicular thyroid		Thyroid dysgenesis							4			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348165	140348165	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140348165C>T	uc003lii.3	+	0	2419	c.1814C>T	c.(1813-1815)aCc>aTc	p.T605I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.T605I	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	605	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T605T(1)		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)			TACCTGGTCACCAAAGTCATA	0.517000														40			18		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87679359	87679359	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:87679359G>A	uc003ydx.3	-	5	694	c.646C>T	c.(646-648)Cga>Tga	p.R216*	CNGB3_uc010maj.3_Nonsense_Mutation_p.R78*	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	216					signal transduction|visual perception	integral to membrane	cGMP binding	p.R216*(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGATAGAGTCGATCTGGAAAA	0.453000														21			8		0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375806	93375806	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:93375806C>T	uc022bjs.1	-	0	304	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	DIRAS2_uc004aqx.1_Missense_Mutation_p.E102K	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	102					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.E102K(6)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CAGATTTGTTCGTAGATGGGC	0.592000														106			10		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939141	2939141	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:2939141G>A	uc001ajz.3	+	0	1096	c.891G>A	c.(889-891)ggG>ggA	p.G297G		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	297						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TCCTCTTTGGGGAGATTGTGC	0.607000														90			35		0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85279804	85279804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:85279804C>T	uc001dkl.2	-	1	826	c.787G>A	c.(787-789)Ggc>Agc	p.G263S	LPAR3_uc009wcj.1_Missense_Mutation_p.G263S	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	263					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAGTTCAGGCCGTCGAGGAGC	0.582000														65			34		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137658856	137658856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:137658856G>A	uc004cfe.3	+	22	2526	c.2144G>A	c.(2143-2145)gGa>gAa	p.G715E		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	715	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGTCCCCAGGGAGAGCCTGGC	0.647000														19			5		0	0	1	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74644535	74644535	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:74644535G>A	uc004ecg.3	-	7	1166	c.688C>T	c.(688-690)Ctc>Ttc	p.L230F	ZDHHC15_uc004ech.3_Missense_Mutation_p.L221F|ZDHHC15_uc011mqo.1_Non-coding_Transcript	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	Homo sapiens zinc finger, DHHC-type containing 15 (ZDHHC15), transcript variant 1, mRNA.	230						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TAACCAAAGAGAATCACAAGG	0.378000														13			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188634	140188634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140188634C>T	uc003lhi.2	+	0	1963	c.1862C>T	c.(1861-1863)cCg>cTg	p.P621L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.P621L|PCDHAC2_uc011daa.2_Missense_Mutation_p.P621L	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	632	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P621L(2)		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)			GCGCGCATCCCGTTCCGCGTG	0.672000														84			25		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158596730	158596730	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158596730G>A	uc001fst.1	-	40	5931	c.5732C>T	c.(5731-5733)cCt>cTt	p.P1911L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1911					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCCAGAGAAGGGGTCTTTTC	0.428000														149			63		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179107	55179107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55179107C>T	uc002qgp.3	+	10	1425	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	LILRB4_uc002qgq.3_Missense_Mutation_p.P354S|LILRB4_uc010ert.3_Missense_Mutation_p.P396S|LILRB4_uc010eru.3_Missense_Mutation_p.P385S	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.	355						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)		CGATGAAGACCCCCAGGCAGT	0.567000														80			16		0	0	1	0	0
ACTG2	72	broad.mit.edu	37	2	74140694	74140694	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74140694C>T	uc002sjw.3	+	5	656	c.534C>T	c.(532-534)cgC>cgT	p.R178R	ACTG2_uc010yrn.2_Silent_p.R135R|ACTG2_uc010fey.3_Silent_p.R178R	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	178					muscle contraction	cytoskeleton|cytosol	ATP binding	p.R178C(1)		large_intestine(3)|lung(14)|skin(1)	18						CCATCATGCGCCTGGACTTGG	0.552000														105			32		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71535217	71535217	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:71535217C>T	uc002atb.1	+	3	773	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	232	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAGTGGCCCTCGCTCTGGACT	0.577000														99			22		0	0	1	0	0
RASSF10	644943	broad.mit.edu	37	11	13032633	13032633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:13032633G>A	uc021qdz.1	+	0	1664	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K		NM_001080521	NP_001073990	A6NK89	RASFA_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 10 (RASSF10), mRNA.	504					signal transduction										Epithelial(150;0.00399)		GCCCATGTGCGAATCCCTTGT	0.632000														11			3		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220326713	220326713	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220326713G>A	uc010fwg.3	+	6	2550	c.2550G>A	c.(2548-2550)atG>atA	p.M850I	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_Missense_Mutation_p.M58I|SPEG_uc002vln.1_Missense_Mutation_p.M58I|SPEG_uc002vlp.1_Missense_Mutation_p.M58I|SPEG_uc002vlq.3_Missense_Mutation_p.M1I	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	850					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCCACCATGAAGCCCAGTC	0.647000														100			40		0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190925110	190925110	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:190925110A>C	uc002urp.3	-	1	558	c.425T>G	c.(424-426)tTt>tGt	p.F142C		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	142					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTTAGAGCTAAATTTAAAGAA	0.333000														59			18		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45670699	45670699	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45670699G>A	uc002zeg.1	-	9	1387	c.903C>T	c.(901-903)ttC>ttT	p.F301F	DNMT3L_uc002zeh.1_Silent_p.F301F	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	301					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GCACCTCCAGGAAGCGAGATG	0.647000														92			30		0	0	1	0	0
CCDC24	149473	broad.mit.edu	37	1	44457929	44457929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44457929G>A	uc001clj.3	+	2	343	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc009vxc.3_Intron	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	Homo sapiens coiled-coil domain containing 24 (CCDC24), mRNA.	58										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ATCCTCTCAAGCCCCCAGCTC	0.632000														158			38		0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84233940	84233940	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:84233940G>A	uc003pjz.3	+	1	1020	c.780G>A	c.(778-780)ccG>ccA	p.P260P	PRSS35_uc010kbm.3_Silent_p.P260P|PRSS35_uc021zce.1_Silent_p.P260P	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	260	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)		CCCACATTCCGAAGGGCTGGG	0.537000														28			4		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29651802	29651802	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:29651802C>T	uc001bru.3	+	29	4371	c.4242C>T	c.(4240-4242)acC>acT	p.T1414T	PTPRU_uc009vtq.3_Silent_p.T1408T|PTPRU_uc009vtr.3_Silent_p.T1401T|PTPRU_uc001brw.3_Silent_p.T1404T|PTPRU_uc001brx.3_Silent_p.T140T	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	1414	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTGCCAAAACCCTCCGGAACT	0.612000														125			49		0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234357778	234357778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234357778C>T	uc002vui.1	+	14	1656	c.1644C>T	c.(1642-1644)tcC>tcT	p.S548S	DGKD_uc002vuj.1_Silent_p.S504S|DGKD_uc010fyh.1_Silent_p.S415S|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	548					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGCTGGATTCCCTTCTCAAGA	0.587000														144			57		0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230846180	230846180	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:230846180G>A	uc001hty.4	-	1	925	c.417C>T	c.(415-417)gtC>gtT	p.V139V	AGT_uc009xff.3_Silent_p.V111V	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	139					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	p.A138T(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	GGGTGCCAAAGACAGCCGTTG	0.582000														87			45		0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108998259	108998259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:108998259G>A	uc002tea.1	+	1	584	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Missense_Mutation_p.E71K	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	71					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						AATACAAAATGAAGGTGATGT	0.378000														51			20		0	0	1	0	0
LGALS9	3965	broad.mit.edu	37	17	25967717	25967717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:25967717C>T	uc002gzp.3	+	2	369	c.251C>T	c.(250-252)cCc>cTc	p.P84L	LGALS9_uc002gzq.3_Missense_Mutation_p.P84L|LGALS9_uc002gzr.3_Missense_Mutation_p.P27L|LGALS9_uc010waa.2_Missense_Mutation_p.P27L	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	84	Beta-galactoside binding 1.|Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	p.G83V(2)		endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		AGCTGGGGGCCCGAGGAGAGG	0.547000														56			49		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468644	86468644	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:86468644C>T	uc003uid.3	+	3	2913	c.1814C>T	c.(1813-1815)cCc>cTc	p.P605L	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.P477L|GRM3_uc010leh.3_Missense_Mutation_p.P197L	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	605					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)	AACAACACACCCTTGGTCAAA	0.483000														85			23		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94488981	94488981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:94488981G>A	uc004arj.2	-	7	1427	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	ROR2_uc004ari.1_Missense_Mutation_p.P270S|ROR2_uc004ark.3_Silent_p.S398S	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	410					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCGATGCTGGGGACCAAGATG	0.498000														50			29		0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67290926	67290926	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67290926C>T	uc002esm.3	+	6	1308	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	SLC9A5_uc010cee.3_Silent_p.L120L|SLC9A5_uc010vji.2_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	415					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CCTTTGCTCTCGTCATCCTAC	0.557000														113			54		0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6756023	6756023	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6756023C>T	uc001qpu.1	-	1	247	c.199G>A	c.(199-201)Ggc>Agc	p.G67S	ACRBP_uc010sfg.1_Missense_Mutation_p.G67S	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	67						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TTCCGGCAGCCGTGGGTTGCA	0.602000														39			21		0	0	1	0	0
MARCH5	54708	broad.mit.edu	37	10	94109519	94109519	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:94109519C>T	uc001khx.1	+	4	977	c.645C>T	c.(643-645)gtC>gtT	p.V215V	MARCH5_uc010qno.1_Silent_p.V111V	NM_017824	NP_060294	Q9NX47	MARH5_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 5 (MARCH5), mRNA.	215					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GAGCCCTTGTCTTTCCTACTA	0.403000														175			95		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225122	21225122	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21225122G>A	uc002red.3	-	28	13300	c.13172C>T	c.(13171-13173)cCa>cTa	p.P4391L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4391					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AACTATACTTGGATCAAAATA	0.363000														69			33		0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41750565	41750565	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:41750565C>T	uc003gwf.4	-	0	423	c.63G>A	c.(61-63)atG>atA	p.M21I		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	21					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TCGAGGTGTCCATCCCAGCCA	0.498000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					31			12		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	30054429	30054429	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:30054429G>T	uc001usl.4	+	7	3415	c.3357G>T	c.(3355-3357)gaG>gaT	p.E1119D	MTUS2_uc001usm.4_Missense_Mutation_p.E88D|MTUS2_uc010aau.3_5'UTR|BC027486_uc001usn.3_Intron	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	1109	Localization to the growing distal tip of microtubules.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGCAATTCGAGGCGGAAATGG	0.657000														2			2		0.0784	0.0784083	1	1	0
TBX20	57057	broad.mit.edu	37	7	35242161	35242161	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:35242161T>A	uc011kas.2	-	7	1705	c.1225A>T	c.(1225-1227)Agt>Tgt	p.S409C		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	409						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GTGGGGCCACTCCCTTGCATG	0.557000														27			7		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21158759	21158759	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:21158759C>T	uc001iqi.3	-	5	889	c.492G>A	c.(490-492)agG>agA	p.R164R	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	164					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCACGTCTTTCCTATAAGAAA	0.363000														70			16		0	0	1	0	0
BC043541	0	broad.mit.edu	37	1	43352383	43352383	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:43352383C>T	uc001cij.1	+	3		c.285C>T								Homo sapiens cDNA clone IMAGE:5170739.																		TTGTCTTCCCCCTCGTTGCTG	0.552000														23			7		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1032042	1032042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1032042C>T	uc001lsw.2	-	2	178	c.127G>A	c.(127-129)Ggc>Agc	p.G43S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	43					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGCACTGGCCTTTGTCCGGG	0.637000														28			9		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88678498	88678498	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:88678498C>T	uc002bme.2	-	9	1344	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	NTRK3_uc002bmh.2_Silent_p.K346K|NTRK3_uc002bmf.2_Silent_p.K346K|NTRK3_uc021sua.1_Silent_p.K346K|NTRK3_uc010upl.1_Silent_p.K248K|NTRK3_uc010bnh.1_Silent_p.K346K|NTRK3_uc002bmg.3_Silent_p.K346K	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	346	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CATGGATGATCTTGGACTCCC	0.567000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				140			10		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48667926	48667926	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48667926C>T	uc002irk.1	+	9	2768	c.2396C>T	c.(2395-2397)cCc>cTc	p.P799L	CACNA1G_uc002iri.1_Missense_Mutation_p.P799L|CACNA1G_uc002irj.1_Missense_Mutation_p.P799L|CACNA1G_uc002irl.1_Missense_Mutation_p.P799L|CACNA1G_uc002irm.1_Missense_Mutation_p.P799L|CACNA1G_uc002irn.1_Missense_Mutation_p.P799L|CACNA1G_uc002iro.1_Missense_Mutation_p.P799L|CACNA1G_uc002irp.1_Missense_Mutation_p.P799L|CACNA1G_uc002irq.1_Missense_Mutation_p.P799L|CACNA1G_uc002irr.1_Missense_Mutation_p.P799L|CACNA1G_uc002irs.1_Missense_Mutation_p.P799L|CACNA1G_uc002irt.1_Missense_Mutation_p.P799L|CACNA1G_uc002iru.1_Missense_Mutation_p.P799L|CACNA1G_uc002irv.1_Missense_Mutation_p.P799L|CACNA1G_uc002irw.1_Missense_Mutation_p.P799L|CACNA1G_uc002irx.1_Missense_Mutation_p.P712L|CACNA1G_uc002iry.1_Missense_Mutation_p.P712L|CACNA1G_uc002isg.1_Missense_Mutation_p.P712L|CACNA1G_uc002ish.1_Missense_Mutation_p.P712L|CACNA1G_uc002isi.1_Missense_Mutation_p.P712L|CACNA1G_uc002irz.1_Missense_Mutation_p.P712L|CACNA1G_uc002isa.1_Missense_Mutation_p.P712L|CACNA1G_uc002isd.1_Missense_Mutation_p.P712L|CACNA1G_uc002isb.1_Missense_Mutation_p.P712L|CACNA1G_uc002isc.1_Missense_Mutation_p.P712L|CACNA1G_uc002ise.1_Missense_Mutation_p.P712L|CACNA1G_uc002isf.1_Missense_Mutation_p.P712L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	799					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGTATGGTCCCTTTGGCTAC	0.517000														40			8		0	0	1	0	0
UBE2F	140739	broad.mit.edu	37	2	238944540	238944540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:238944540C>T	uc002vxk.3	+	8	670	c.466C>T	c.(466-468)Cca>Tca	p.P156S	UBE2F_uc010zno.2_Non-coding_Transcript|UBE2F_uc010znn.2_Missense_Mutation_p.P124S|UBE2F_uc010znp.2_3'UTR|SCLY_uc002vxm.4_5'UTR	NM_080678	NP_542409	Q969M7	UBE2F_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2F (putative) (UBE2F), transcript variant 1, mRNA.	156					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		TTTTGATGATCCACTGAATAT	0.373000														44			15		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43819490	43819490	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43819490G>A	uc001zrt.3	+	3	6286	c.5819G>A	c.(5818-5820)aGc>aAc	p.S1940N		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1940						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCAGCAAAAGCCATGCCACC	0.547000														73			37		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140731807	140731807	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140731807C>T	uc003ljo.2	+	0	1980	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljq.2_5'Flank|PCDHGC5_uc011daq.2_Silent_p.F660F|PCDHGC5_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	666	Cadherin 6.				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)			ACCTAATCTTCGCGGATAGCC	0.657000														116			40		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56552397	56552397	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56552397G>A	uc002qmj.3	+	10	2896	c.2896G>A	c.(2896-2898)Gaa>Aaa	p.E966K	NLRP5_uc002qmi.3_Missense_Mutation_p.E947K	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	966						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGGGGAACGAAGGTGTAAA	0.567000														142			51		0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91198523	91198523	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:91198523G>A	uc001kgm.3	-	5	1167	c.866C>T	c.(865-867)tCc>tTc	p.S289F	SLC16A12_uc001kgl.3_5'Flank	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	259						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AAACAGAACGGAGACGGCTAA	0.448000														55			25		0	0	1	0	0
TIGD2	166815	broad.mit.edu	37	4	90035004	90035004	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:90035004C>T	uc003hsk.3	+	0	1037	c.879C>T	c.(877-879)ttC>ttT	p.F293F	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	Homo sapiens tigger transposable element derived 2 (TIGD2), mRNA.	293	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TTTTAGATTTCCCCCCAGCAC	0.393000														83			35		0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112358338	112358338	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:112358338G>A	uc003dzf.3	-	1	633	c.415C>T	c.(415-417)Ccc>Tcc	p.P139S	CCDC80_uc011bhv.2_Missense_Mutation_p.P139S|CCDC80_uc003dzg.3_Missense_Mutation_p.P139S|CCDC80_uc003dzh.1_Missense_Mutation_p.P139S	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	139										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						AGGATGTTGGGAGAGCTGGAC	0.572000														127			8		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33855038	33855038	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:33855038G>A	uc001zhi.3	+	11	1043	c.973_splice	c.e11-1	p.E325_splice	RYR3_uc010bar.3_Splice_Site_p.E325_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	325	MIR 4.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TATGAATTAGGAACTCAAGGA	0.388000														31			12		0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97852431	97852431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:97852431G>A	uc003upg.3	-	20	3004	c.2799C>T	c.(2797-2799)gcC>gcT	p.A933A		NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	933						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGTCCCTGAGGGCGATGGGGG	0.667000														8			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082364	9082364	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9082364G>A	uc002mkp.3	-	0	9655	c.9451C>T	c.(9451-9453)Cct>Tct	p.P3151S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3152	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P3151P(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						GTCTTGGCAGGAACTGAAATA	0.443000														66			24		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926313	1926313	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1926313C>T	uc002qxe.3	-	9	2055	c.1228G>A	c.(1228-1230)Gac>Aac	p.D410N	MYT1L_uc002qxd.3_Missense_Mutation_p.D410N|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	410					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D410N(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTGGTATCGTCGTCCCGCTCA	0.582000														53			14		0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782025	107782025	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:107782025C>T	uc003ymm.4	-	0	448	c.394G>A	c.(394-396)Gag>Aag	p.E132K		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	132					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCATCCCTCTCGTACCTGTGG	0.542000														87			41		0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528284	20528284	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20528284C>T	uc001vwn.1	+	0	81	c.81C>T	c.(79-81)ttC>ttT	p.F27F		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F27L(2)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAATTTTCTTCTTTGTGACAT	0.383000														219			91		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168807887	168807887	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:168807887C>T	uc011bpj.1	-	14	3705	c.3302G>A	c.(3301-3303)gGa>gAa	p.G1101E	MECOM_uc010hwk.1_Missense_Mutation_p.G927E|MECOM_uc003ffj.3_Missense_Mutation_p.G978E|MECOM_uc003ffi.3_Missense_Mutation_p.G913E|MECOM_uc011bpi.1_Missense_Mutation_p.G905E|MECOM_uc003ffn.3_Missense_Mutation_p.G913E|MECOM_uc003ffk.2_Missense_Mutation_p.G904E|MECOM_uc003ffl.2_Missense_Mutation_p.G1064E|MECOM_uc011bpk.1_Missense_Mutation_p.G913E	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGTTCCTTTCCTGTTTTTCC	0.428000														149			64		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115409800	115409800	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115409800C>T	uc001lal.3	-	8	1048	c.884G>A	c.(883-885)gGc>gAc	p.G295D	NRAP_uc001laj.3_Missense_Mutation_p.G295D|NRAP_uc001lak.3_Missense_Mutation_p.G295D	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	295						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ACATACCTGGCCATATTGGTC	0.468000														184			33		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124401103	124401103	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124401103C>T	uc001uft.4	+	61	10493	c.10468C>T	c.(10468-10470)Cct>Tct	p.P3490S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3490	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATACATCGATCCTGTGATTGA	0.433000														73			14		0	0	1	0	0
SPINT4	391253	broad.mit.edu	37	20	44352646	44352646	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44352646C>T	uc002xpe.1	+	1	262	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_178455	NP_848550	Q6UDR6	SPIT4_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 4 (SPINT4), mRNA.	81	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				TTAACAACTTCAAGCTTAAAA	0.403000														118			24		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129096476	129096476	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:129096476C>T	uc011koy.2	+	8	1071	c.1031C>T	c.(1030-1032)tCt>tTt	p.S344F	FAM40B_uc003vow.3_Missense_Mutation_p.S344F|FAM40B_uc011koz.2_5'Flank	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	344										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGCCGTGGCTCTCGAAGGGTA	0.552000														27			14		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879555	3879555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:3879555C>T	uc002kmf.3	-	3	1041	c.514G>A	c.(514-516)Gag>Aag	p.E172K	DLGAP1_uc010wyz.2_Missense_Mutation_p.E172K|DLGAP1_uc002kmk.2_Missense_Mutation_p.E172K|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	172					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.E172K(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCCTGCGCCTCGTCAGGGCTG	0.711000														108			36		0	0	1	0	0
FYN	2534	broad.mit.edu	37	6	112021399	112021399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:112021399G>A	uc003pvj.3	-	7	1110	c.770C>T	c.(769-771)tCt>tTt	p.S257F	FYN_uc003pvi.3_Intron|FYN_uc003pvk.3_Missense_Mutation_p.S257F|FYN_uc003pvh.3_Intron|FYN_uc010kdy.1_Intron	NM_002037	NP_002028	P06241	FYN_HUMAN	Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA.	257					T cell costimulation|T cell receptor signaling pathway|axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GGTTTTGACAGACAGATCGGT	0.537000														74			30		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228481217	228481217	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228481217C>T	uc009xez.1	+	40	11075	c.11031C>T	c.(11029-11031)gcC>gcT	p.A3677A	OBSCN_uc001hsn.3_Silent_p.A3677A|OBSCN_uc001hsq.1_Silent_p.A933A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3677	Ig-like 37.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGACGGGGCCAGGTGTGAGC	0.647000														56			35		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057770	63057770	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63057770C>T	uc009yor.3	+	0	341	c.133C>T	c.(133-135)Cct>Tct	p.P45S	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_5'UTR	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	45						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCAGCCATTCCTGGTCATCG	0.443000														81			39		0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135382142	135382142	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:135382142C>T	uc003lbf.4	+	3	578	c.417C>T	c.(415-417)acC>acT	p.T139T	TGFBI_uc003lbg.4_5'UTR|TGFBI_uc003lbh.4_5'UTR|TGFBI_uc011cyb.2_5'UTR	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	139	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGCTTCACCATCTTCGCCC	0.622000														24			9		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105923959	105923959	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105923959G>A	uc001kxw.3	-	23	3255	c.3139C>T	c.(3139-3141)Cga>Tga	p.R1047*	WDR96_uc009xxq.3_Nonsense_Mutation_p.R355*	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1047								p.R1047*(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCTCGAATTCGAACATTTCTT	0.368000														31			12		0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3831551	3831551	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3831551C>T	uc002fwy.2	-	20	3224	c.3051G>A	c.(3049-3051)tgG>tgA	p.W1017*	ATP2A3_uc010ckn.2_Intron|ATP2A3_uc002fwz.2_Nonsense_Mutation_p.W1017*|ATP2A3_uc002fxa.2_Nonsense_Mutation_p.W1017*|ATP2A3_uc002fxb.2_Nonsense_Mutation_p.W1017*|ATP2A3_uc002fxc.2_Intron|ATP2A3_uc002fxd.2_Intron|ATP2A3_uc002fwx.2_Nonsense_Mutation_p.W1017*	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	1017					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGTCTGGGGTCCAAGAGGTGG	0.612000														32			16		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43045247	43045247	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43045247G>A	uc001zqo.2	-	13	2636	c.2197C>T	c.(2197-2199)Cag>Tag	p.Q733*	TTBK2_uc010bcy.2_Nonsense_Mutation_p.Q664*	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	733					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TGATCTATCTGAAGCCCCAAA	0.448000														204			18		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3654979	3654979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3654979C>T	uc002fwo.4	-	14	1957	c.1858G>A	c.(1858-1860)Gga>Aga	p.G620R		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	620					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TCCCAGTGTCCATTGTAGATA	0.597000														33			18		0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	49012254	49012254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49012254C>T	uc003cvb.3	+	9	1205	c.893C>T	c.(892-894)cCc>cTc	p.P298L	ARIH2_uc003cvc.3_Missense_Mutation_p.P298L|ARIH2_uc003cvf.3_Missense_Mutation_p.P216L|ARIH2_uc010hkl.3_Missense_Mutation_p.P298L	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	298					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P298P(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		CCTCAGTGTCCCAAGTGCAAC	0.498000														77			28		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10358346	10358346	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10358346C>T	uc002gmn.3	-	20	2458	c.2347G>A	c.(2347-2349)Gaa>Aaa	p.E783K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	783	Myosin head-like.				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						GCTAGCTTTTCATCTCGCATT	0.443000														44			28		0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173322869	173322869	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:173322869C>T	uc021xhm.1	+	0	801	c.481C>T	c.(481-483)Ccg>Tcg	p.P161S	NLGN1_uc003fio.1_Missense_Mutation_p.P161S|NLGN1_uc010hww.1_Missense_Mutation_p.P161S|NLGN1_uc003fip.1_Missense_Mutation_p.P161S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	161					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.P161T(2)|p.V160V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TATATATGTCCCGACTGAGGA	0.338000														127			8		0	0	1	0	0
CAMK2D	817	broad.mit.edu	37	4	114438809	114438809	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:114438809G>A	uc003ibi.3	-	8	1465	c.606C>T	c.(604-606)gtC>gtT	p.V202V	CAMK2D_uc003ibj.3_Silent_p.V202V|CAMK2D_uc003ibk.3_Silent_p.V202V|CAMK2D_uc003ibo.4_Silent_p.V202V|CAMK2D_uc003ibm.2_Silent_p.V202V|CAMK2D_uc003ibn.2_Silent_p.V202V|CAMK2D_uc003ibl.2_Silent_p.V202V	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II delta (CAMK2D), transcript variant 3, mRNA.	202	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TATAGAGAATGACACCTGGAG	0.373000														96			13		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196636412	196636412	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196636412G>A	uc002utj.4	-	60	11506	c.11405C>T	c.(11404-11406)tCg>tTg	p.S3802L	DNAH7_uc002uti.4_Missense_Mutation_p.S285L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3802					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTTACGCACGAATCTCTTAT	0.358000														156			40		0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33797043	33797043	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:33797043G>A	uc009vuh.1	-	11	2401	c.1912C>T	c.(1912-1914)Ccc>Tcc	p.P638S	PHC2_uc001bxg.1_Missense_Mutation_p.P637S|PHC2_uc001bxh.1_Missense_Mutation_p.P609S|PHC2_uc001bxe.1_Missense_Mutation_p.P102S|PHC2_uc001bxf.1_Missense_Mutation_p.P52S	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	637					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGTTTGAGGGGAGCACCCTCC	0.532000														119			57		0	0	1	0	0
FOXD4	2298	broad.mit.edu	37	9	116866	116866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116866C>T	uc003zfz.3	-	0	1552	c.1254G>A	c.(1252-1254)ggG>ggA	p.G418G		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	418					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA 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	p.E417D(1)		endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGTGAGGTCCCCTCTCCGC	0.697000														46			7		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136568062	136568062	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:136568062G>A	uc004cep.4	-	12	1778	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F	SARDH_uc004ceo.3_Silent_p.F548F|SARDH_uc011mdo.2_Silent_p.F380F|SARDH_uc011mdn.2_Silent_p.F548F|SARDH_uc004cen.3_5'UTR	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	548					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCGGGAAGGCGAAGGTGTACT	0.662000														14			4		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81675180	81675180	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81675180C>T	uc001szo.2	-	26	3229	c.3068G>A	c.(3067-3069)tGg>tAg	p.W1023*	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Nonsense_Mutation_p.W922*|PPFIA2_uc021rbh.1_Nonsense_Mutation_p.W918*|PPFIA2_uc021rbi.1_Nonsense_Mutation_p.W1017*|PPFIA2_uc021rbj.1_Nonsense_Mutation_p.W1002*|PPFIA2_uc021rbk.1_Nonsense_Mutation_p.W1008*|PPFIA2_uc021rbl.1_Nonsense_Mutation_p.W1023*|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Nonsense_Mutation_p.W559*|PPFIA2_uc021rbf.1_Nonsense_Mutation_p.W209*	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	922										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATTTCCAATCCACTCATGATT	0.388000														88			27		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233296028	233296028	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233296028C>T	uc001hvl.2	-	19	3752	c.3517_splice	c.e19+1	p.D1173_splice	PCNXL2_uc001hvm.1_Splice_Site|PCNXL2_uc009xfu.3_Splice_Site|PCNXL2_uc001hvp.1_Splice_Site|PCNXL2_uc009xfv.1_Splice_Site	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1173						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)				ATATTACTAACCTCTCACTTC	0.418000														29			14		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140532181	140532181	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140532181G>A	uc003lir.3	+	0	2343	c.2343G>A	c.(2341-2343)atG>atA	p.M781I		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	781					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGAGAAATGGAAGAAACCC	0.433000														85			9		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226733	158226733	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158226733C>T	uc001frt.3	+	3	1295	c.762C>T	c.(760-762)ccC>ccT	p.P254P	CD1A_uc021pbk.1_Non-coding_Transcript	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	254	Ig-like.				antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACATCTTGCCCAGTGCTGATG	0.622000														109			23		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791225	95791225	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95791225C>T	uc001kjk.3	+	1	1056	c.422C>T	c.(421-423)cCt>cTt	p.P141L	PLCE1_uc010qnx.2_Missense_Mutation_p.P141L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	141					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACTGGAATTCCTTCTCCACTG	0.413000														75			32		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49445109	49445109	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49445109G>A	uc001rta.4	-	9	2357	c.2357C>T	c.(2356-2358)cCa>cTa	p.P786L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	786	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGACAAGTGTGGCTCCTCAGG	0.657000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				32			17		0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53515147	53515147	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53515147G>A	uc001sbv.3	+	11	1286	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N	SOAT2_uc009zms.3_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	400					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						GGTGGTCCATGACTGGCTGTA	0.567000														72			7		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53227586	53227586	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53227586G>A	uc001sbb.3	-	0	492	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	153	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGAAGGAGGCGAACTTGTTGT	0.607000														185			68		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70007780	70007780	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70007780C>T	uc001opj.3	+	17	2138	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Silent_p.F553F|ANO1_uc010rqk.2_Silent_p.F320F	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	611					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TCAAGGCTTTCCTGCTGAAGT	0.537000														142			25		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841957	5841957	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5841957C>T	uc010qzp.2	+	0	392	c.392C>T	c.(391-393)cCc>cTc	p.P131L	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTGCTACCCCTTACGCTAT	0.552000														87			21		0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12918988	12918988	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12918988G>A	uc001aum.1	+	1	211	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	42										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCTTCAGGGAGGCCTTCAG	0.597000														213			43		0	0	1	0	0
HDHD1	8226	broad.mit.edu	37	X	7023738	7023738	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:7023738G>A	uc004crv.2	-	1	280	c.203C>T	c.(202-204)cCg>cTg	p.P68L	HDHD1_uc011mhm.1_Missense_Mutation_p.P91L|HDHD1_uc011mhn.1_Intron|HDHD1_uc010ndl.2_Missense_Mutation_p.P68L|HDHD1_uc011mho.1_Missense_Mutation_p.P68L	NM_012080	NP_036212	Q08623	HDHD1_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 1 (HDHD1), transcript variant 2, mRNA.	68					nucleotide metabolic process		metal ion binding|phosphatase activity			breast(2)|large_intestine(1)|lung(3)	6						TTTGGACATCGGGAGCTGCAA	0.502000														13			4		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133196570	133196570	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133196570C>T	uc003ytj.3	-	2	747	c.522G>A	c.(520-522)agG>agA	p.R174R	KCNQ3_uc003yti.3_Silent_p.R54R|KCNQ3_uc010mdt.3_Silent_p.R174R	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	174					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAGCCCAGATCCTCAAAGCAA	0.532000														94			38		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85432029	85432029	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:85432029A>C	uc001tac.3	+	1	186	c.75A>C	c.(73-75)gaA>gaC	p.E25D	TSPAN19_uc009zsj.3_5'Flank|LRRIQ1_uc001taa.1_Missense_Mutation_p.E25D|LRRIQ1_uc001tad.3_5'Flank	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	25										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCTCCTTGGAAAAAGAAGACA	0.373000														97			11		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91770166	91770166	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:91770166C>T	uc010aty.3	-	19	3668	c.3514G>A	c.(3514-3516)Gag>Aag	p.E1172K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1172					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCCAGGTGCTCGTGGTCCTGC	0.632000														35			14		0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202490	248202490	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248202490C>T	uc001idw.3	+	0	1017	c.921C>T	c.(919-921)atC>atT	p.I307I	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTCAGAAAATCTTCTCAGTGA	0.423000														100			20		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407248	38407248	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38407248G>A	uc003jlc.2	+	8	1493	c.1147_splice	c.e8+1	p.D383_splice	EGFLAM_uc003jlb.2_Splice_Site_p.D383_splice|EGFLAM_uc003jle.2_Splice_Site_p.D149_splice|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	383						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGCTCAGAAGGTAGGCCCTT	0.547000														30			12		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324651	79324651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:79324651C>T	uc010mpk.3	-	7	2663	c.2539G>A	c.(2539-2541)Gaa>Aaa	p.E847K	PRUNE2_uc022bih.1_Missense_Mutation_p.E669K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	847					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCAGTAGTTCTGAAGAAGAA	0.463000														28			11		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90139396	90139396	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:90139396C>T	uc010yts.2	+	30		c.3454C>T								Parts of antibodies, mostly variable regions.																		AGCTGGTTAGCCTGGTATCAG	0.527000														164			55		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431686	135431686	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:135431686C>T	uc004ezu.1	+	5	6112	c.5821C>T	c.(5821-5823)Cct>Tct	p.P1941S	GPR112_uc010nsb.1_Missense_Mutation_p.P1736S|GPR112_uc010nsc.1_Missense_Mutation_p.P1708S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1941					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTCATCAATTCCTATGTCAGG	0.433000														38			37		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156646890	156646890	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156646890G>A	uc001fpq.3	-	0	300	c.167C>T	c.(166-168)gCc>gTc	p.A56V		NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	56	Coil 1B.|Rod.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCGTCGTCGGCATGCGCCCG	0.721000														15			8		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35406833	35406833	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:35406833C>T	uc003xjr.2	+	1	455	c.127C>T	c.(127-129)Ccc>Tcc	p.P43S	UNC5D_uc003xjs.2_Missense_Mutation_p.P38S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	43					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CGAAGCCCTTCCCGAATCCAT	0.468000														68			6		0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6442295	6442295	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6442295G>A	uc001qnu.3	-	4	794	c.491C>T	c.(490-492)aCc>aTc	p.T164I	TNFRSF1A_uc001qnt.3_Missense_Mutation_p.T56I|TNFRSF1A_uc010sey.2_5'UTR|TNFRSF1A_uc010sez.2_Missense_Mutation_p.T56I|TNFRSF1A_uc009zek.3_Missense_Mutation_p.T121I|TNFRSF1A_uc010sfa.2_Missense_Mutation_p.T164I	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	164					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GGTGCACACGGTGTTCTGTTT	0.557000														32			9		0	0	1	0	0
C11orf9	745	broad.mit.edu	37	11	61533565	61533565	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:61533565C>T	uc001nsc.1	+	2	366	c.270C>T	c.(268-270)ctC>ctT	p.L90L	C11orf9_uc001nse.1_Silent_p.L81L	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	90	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						ATGGTCCCCTCCCACCCCCGG	0.736000														26			12		0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92702991	92702991	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92702991C>T	uc001pdk.1	+	0	203	c.100C>T	c.(100-102)Cct>Tct	p.P34S		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	34					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CTCCAGGACCCCTCGACCTCC	0.716000														7			4		0	0	1	0	0
SH3GL1	6455	broad.mit.edu	37	19	4365544	4365544	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4365544G>A	uc002maj.3	-	3	466	c.266C>T	c.(265-267)tCg>tTg	p.S89L	SH3GL1_uc002mak.3_Intron|SH3GL1_uc010xig.2_Intron	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	Homo sapiens SH3-domain GRB2-like 1 (SH3GL1), transcript variant 1, mRNA.	89	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		AAGCCCCTCCGACTGCGGGTA	0.652000			T	MLL	AL									99			37		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41710035	41710035	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41710035G>A	uc002yyq.1	-	7	2228	c.1776C>T	c.(1774-1776)acC>acT	p.T592T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	592	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TACCTTTCACGGTCACGTGGA	0.507000														101			46		0	0	1	0	0
PARVA	55742	broad.mit.edu	37	11	12539227	12539227	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:12539227T>C	uc001mki.3	+	10	1107	c.938T>C	c.(937-939)tTc>tCc	p.F313S		NM_018222	NP_060692	Q9NVD7	PARVA_HUMAN	Homo sapiens parvin, alpha (PARVA), mRNA.	313	CH 2.				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		CTGCACAGCTTCTTCCTGACC	0.597000														13			3		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55961752	55961753	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:55961752_55961753GG>AA	uc003has.3	-	19	3110_3111	c.2808_2809CC>TT	c.(2806-2811)gtcccc>gtTTcc	p.P937S	KDR_uc003hat.1_Missense_Mutation_p.P937S	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	937	Protein kinase.				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.P937H(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)	ACCTTGTAGGGGACAAATTCAT	0.421000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				59			22		0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159802914	159802914	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159802914C>T	uc001fue.4	+	2	826	c.616C>T	c.(616-618)Cct>Tct	p.P206S		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	206	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TGTCTCCAACCCTGTCAGCTG	0.557000														81			31		0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108363052	108363052	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108363052C>T	uc003dxd.3	+	13	1605	c.1183C>T	c.(1183-1185)Cat>Tat	p.H395Y	DZIP3_uc003dxf.1_Missense_Mutation_p.H395Y|DZIP3_uc011bhm.2_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.H395Y|DZIP3_uc003dxg.1_Missense_Mutation_p.H118Y	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	395					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTATTTCTATCATCTGCTTCA	0.303000														67			24		0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16504332	16504332	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:16504332C>T	uc003goz.3	-	7	1372	c.1056G>A	c.(1054-1056)tgG>tgA	p.W352*	LDB2_uc003gpa.3_3'UTR|LDB2_uc011bxh.2_Nonsense_Mutation_p.W324*|LDB2_uc003gpb.3_Nonsense_Mutation_p.W350*|LDB2_uc010iee.3_3'UTR|LDB2_uc011bxi.2_3'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	352							LIM domain binding|transcription cofactor activity	p.P351P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GTTTACTGTTCCACGGGCTGT	0.522000														160			56		0	0	1	0	0
ICOSLG	23308	broad.mit.edu	37	21	45656834	45656834	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45656834C>T	uc010gpp.1	-	2	456	c.322G>A	c.(322-324)Gag>Aag	p.E108K	ICOSLG_uc002zef.3_Intron|ICOSLG_uc002zee.3_Missense_Mutation_p.E108K|ICOSLG_uc011afc.2_Missense_Mutation_p.E18K	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	108	Ig-like V-type.				B cell activation|T cell activation|T cell costimulation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		AACTTCTGCTCGTCCTGGGGG	0.602000														98			7		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82785568	82785568	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82785568G>A	uc003uhx.2	-	1	678	c.389C>T	c.(388-390)cCt>cTt	p.P130L	PCLO_uc003uhv.2_Missense_Mutation_p.P130L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	130					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						AATAGTGGAAGGACTCCTCCC	0.478000														82			27		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247463	164247463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:164247463G>A	uc003iqm.2	-	1	709	c.244C>T	c.(244-246)Ctt>Ttt	p.L82F	NPY1R_uc021xtv.1_Missense_Mutation_p.L82F|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	82					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGAAGGAAAGGTTCACAATC	0.423000														67			22		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42695454	42695454	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42695454G>A	uc010ggo.3	+	7	1481	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N	TOX2_uc002xle.4_Missense_Mutation_p.D439N|TOX2_uc010ggp.3_Missense_Mutation_p.D439N|TOX2_uc002xlf.4_Missense_Mutation_p.D463N|TOX2_uc010zwk.2_Missense_Mutation_p.D359N	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CGGGGACTGGGACAGCAGCTA	0.637000														121			43		0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154960885	154960885	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154960885C>T	uc001fgf.2	+	1	1078	c.677C>T	c.(676-678)tCt>tTt	p.S226F	FLAD1_uc001fgc.3_Missense_Mutation_p.S127F|FLAD1_uc001fgd.2_Missense_Mutation_p.S226F|FLAD1_uc001fge.2_Missense_Mutation_p.S129F|FLAD1_uc001fgg.2_Missense_Mutation_p.S129F|FLAD1_uc021paj.1_Missense_Mutation_p.S127F|FLAD1_uc001fgh.1_5'UTR	NM_025207	NP_958800	Q8NFF5	FAD1_HUMAN	Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA.	226					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTGCCCTCCTCTGCCCGCCTG	0.567000														54			29		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124095709	124095709	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124095709C>T	uc010saf.2	+	0	312	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	104						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGAAGAACATCATCTCCTACC	0.433000														147			44		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199156	118199156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:118199156G>A	uc001two.2	-	3	614	c.559C>T	c.(559-561)Ccc>Tcc	p.P187S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	216	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGCCCCGGGAGTGGGGCTG	0.706000														22			12		0	0	1	0	0
FAM159A	348378	broad.mit.edu	37	1	53122628	53122628	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:53122628G>A	uc001cuf.3	+	2	589	c.489G>A	c.(487-489)atG>atA	p.M163I	FAM159A_uc001cug.1_Intron|FAM159A_uc001cuh.3_Intron	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	Homo sapiens family with sequence similarity 159, member A (FAM159A), mRNA.	163						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						ATTGCTTCATGGCCACAGTGA	0.542000														256			22		0	0	1	0	0
LRPAP1	4043	broad.mit.edu	37	4	3516553	3516553	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:3516553C>T	uc003ghh.4	-	6	1022	c.937G>A	c.(937-939)Gac>Aac	p.D313N		NM_002337	NP_002328	P30533	AMRP_HUMAN	Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.	313	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CGCTCGCCGTCGCCCACGCTC	0.647000														86			19		0	0	1	0	0
TIAL1	7073	broad.mit.edu	37	10	121336989	121336989	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:121336989G>A	uc001lei.1	-	8	1275	c.711C>T	c.(709-711)ttC>ttT	p.F237F	TIAL1_uc001leh.1_Silent_p.F215F|TIAL1_uc001lej.1_Silent_p.F254F|TIAL1_uc001lek.1_Silent_p.F114F|TIAL1_uc010qtb.1_Silent_p.F114F	NM_003252	NP_003243	Q01085	TIAR_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein-like 1 (TIAL1), transcript variant 1, mRNA.	237	RRM 3.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CCTTTTCTGGGAAAACTCTTA	0.318000														48			28		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35831879	35831879	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35831879C>T	uc010edt.3	+	6	1429	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	CD22_uc010edu.3_Missense_Mutation_p.P361S|CD22_uc010edv.3_Missense_Mutation_p.P449S|CD22_uc002nzb.4_Missense_Mutation_p.P272S|CD22_uc010xst.2_Missense_Mutation_p.P277S|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	449	Ig-like C2-type 4.				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)	TTCCAGTAACCCCAGTGTTAC	0.522000														53			19		0	0	1	0	0
SLC17A7	57030	broad.mit.edu	37	19	49939943	49939943	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49939943G>A	uc002pnp.3	-	1	350	c.178C>T	c.(178-180)Cct>Tct	p.P60S	SLC17A7_uc002pnq.1_5'UTR	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	60					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TAGCGGCGAGGGAGGCCGAAG	0.647000														101			42		0	0	1	0	0
FOXRED1	55572	broad.mit.edu	37	11	126143291	126143291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:126143291C>T	uc001qdi.3	+	3	645	c.478C>T	c.(478-480)Ctc>Ttc	p.L160F	FOXRED1_uc010sbn.2_5'UTR|FOXRED1_uc010sbq.2_Missense_Mutation_p.P28L|FOXRED1_uc010sbo.2_Non-coding_Transcript|FOXRED1_uc010sbp.2_5'UTR|FOXRED1_uc010sbr.2_Missense_Mutation_p.L146F|FOXRED1_uc001qdk.3_5'UTR	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	160						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CTCGGGCTACCTCTTGCTGGC	0.567000														129			8		0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104125001	104125001	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104125001G>A	uc010mtd.3	-	3	1075	c.966C>T	c.(964-966)ttC>ttT	p.F322F	BAAT_uc004bbd.4_Silent_p.F322F	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	322					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CTCCTACAATGAAGAGGAATT	0.468000														94			32		0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583638	145583638	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145583638C>T	uc003zcc.2	+	2	650	c.486C>T	c.(484-486)gcC>gcT	p.A162A	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Silent_p.A162A|SLC52A2_uc010mfy.2_Silent_p.A162A|SLC52A2_uc011llc.2_Silent_p.A74A|SLC52A2_uc003zcd.2_Silent_p.A162A	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	162						integral to plasma membrane	receptor activity|riboflavin transporter activity										GCGTGCTGGCCCTAGTGCAGG	0.652000														112			47		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41554252	41554252	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:41554252T>G	uc003xok.3	-	24	2761	c.2677A>C	c.(2677-2679)Agc>Cgc	p.S893R	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.S209R|ANK1_uc003xoi.3_Missense_Mutation_p.S893R|ANK1_uc003xoj.3_Missense_Mutation_p.S893R|ANK1_uc003xol.3_Missense_Mutation_p.S893R|ANK1_uc003xom.3_Missense_Mutation_p.S934R	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	893					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTGGCCGGGCTGCTGGGGATG	0.647000														27			15		0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43285837	43285837	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:43285837C>T	uc001jaj.3	+	4	872	c.514C>T	c.(514-516)Caa>Taa	p.Q172*		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	172					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAACATCTGTCAAGTACATGG	0.378000														136			40		0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121350818	121350818	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121350818C>T	uc003eeh.4	-	13	1461	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	HCLS1_uc011bjj.2_Missense_Mutation_p.E409K	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	446	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		AAGGAAAGCTCATCACTTCCC	0.517000														132			48		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575102	136575102	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136575102C>T	uc002tuu.1	-	5	1527	c.1516G>A	c.(1516-1518)Gat>Aat	p.D506N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	506	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCACCATGATCCTGCAGGGCC	0.587000														44			23		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65789247	65789247	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65789247C>T	uc001ogt.3	-	2	1671	c.1533G>A	c.(1531-1533)tgG>tgA	p.W511*		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	511					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCAAATTGTTCCAGAAGTCAA	0.592000														82			14		0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53266970	53266970	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:53266970G>A	uc002xwy.3	+	7	1093	c.873G>A	c.(871-873)ctG>ctA	p.L291L		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	291							insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CCAGCCCTCTGAAGCTTCATC	0.393000														44			22		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38843566	38843566	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38843566C>T	uc021yzh.1	+	52	7929	c.7820C>T	c.(7819-7821)tCa>tTa	p.S2607L	DNAH8_uc003ooe.2_Missense_Mutation_p.S2390L	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.F2607fs*22(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTAAAGGCTCAAATCAAACC	0.358000														56			20		0	0	1	0	0
ACR	49	broad.mit.edu	37	22	51177731	51177731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:51177731C>T	uc003bnh.4	+	1	122	c.110C>T	c.(109-111)cCa>cTa	p.P37L	BC050343_uc003bng.3_5'Flank|ACR_uc010hbh.1_Missense_Mutation_p.P37L	NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	37					acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		AGGCAAAACCCACAGGGTGGT	0.597000														17			4		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885216	88885216	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:88885216G>A	uc003ydz.3	-	0	1081	c.984C>T	c.(982-984)gtC>gtT	p.V328V		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	328								p.G327E(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CGGCCGCCACGACTCCTTCTT	0.572000														57			20		0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35824855	35824855	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:35824855C>T	uc001byt.3	+	2	495	c.415C>T	c.(415-417)Cct>Tct	p.P139S	ZMYM4_uc009vuu.3_Missense_Mutation_p.P107S|ZMYM4_uc001byu.3_Intron|ZMYM4_uc009vuv.3_5'UTR	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	139					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAAGACTTTCCTAAACAATT	0.308000														40			11		0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55539335	55539335	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:55539335C>T	uc002ehz.4	+	12	2275	c.1964C>T	c.(1963-1965)tCc>tTc	p.S655F	MMP2_uc010vhd.2_Missense_Mutation_p.S579F|MMP2_uc010ccc.3_Missense_Mutation_p.S605F	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	655	Hemopexin-like 4.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AGCATCAAATCCGACTGGCTA	0.552000														89			57		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086197	92086197	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92086197G>A	uc001pdj.4	+	0	936	c.919G>A	c.(919-921)Gat>Aat	p.D307N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	307	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTGGCTGGGGATCCTTTAGA	0.448000										TCGA Ovarian(4;0.039)				37			14		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592977	38592977	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38592977C>T	uc021wvo.1	-	26	4938	c.4886G>A	c.(4885-4887)cGa>cAa	p.R1629Q	SCN5A_uc021wvk.1_Missense_Mutation_p.R1596Q|SCN5A_uc021wvl.1_Missense_Mutation_p.R1575Q|SCN5A_uc021wvm.1_Missense_Mutation_p.R1611Q|SCN5A_uc021wvn.1_Missense_Mutation_p.R1628Q|SCN5A_uc021wvp.1_Missense_Mutation_p.R1629Q|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.R1441Q|SCN5A_uc021wvi.1_Missense_Mutation_p.R1495Q	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1629					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCGGCCTATTCGGGCCAGGCG	0.592000														94			42		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1047173	1047173	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:1047173C>T	uc002lqw.4	+	14	2094	c.1863C>T	c.(1861-1863)ccC>ccT	p.P621P	ABCA7_uc010dsb.1_Silent_p.P483P	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	621					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		ACATCCTCCCCTACAGCCACC	0.677000														14			5		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220337666	220337666	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220337666G>A	uc010fwg.3	+	15	3995	c.3995G>A	c.(3994-3996)tGg>tAg	p.W1332*		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1332	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCGGACCAGTGGACGGCACTG	0.647000														49			20		0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45265663	45265663	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:45265663C>T	uc001myq.2	-	5	1347	c.1221G>A	c.(1219-1221)tgG>tgA	p.W407*	SYT13_uc009yku.1_Nonsense_Mutation_p.W263*	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	407						transport vesicle		p.W407L(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GCATCTCCTCCCAGTGGCTGC	0.642000														49			6		0	0	1	0	0
PPCS	79717	broad.mit.edu	37	1	42925368	42925368	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:42925368C>T	uc001chl.3	+	2	771	c.707C>T	c.(706-708)cCc>cTc	p.P236L	PPCS_uc001chk.3_Missense_Mutation_p.P63L	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN	Homo sapiens phosphopantothenoylcysteine synthetase (PPCS), transcript variant 1, mRNA.	236					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	p.P236P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGACTGACCCCGCCATTGTA	0.403000														116			35		0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810761	65810761	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65810761G>A	uc001ogv.3	-	1	673	c.513C>T	c.(511-513)gcC>gcT	p.A171A	GAL3ST3_uc001ogw.3_Silent_p.A171A	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	171					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						CGCGCCGGAAGGCCGGGCAGT	0.662000														25			6		0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109377600	109377600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:109377600C>T	uc001dwa.3	-	7	1884	c.1615G>A	c.(1615-1617)Ggg>Agg	p.G539R	AKNAD1_uc010ovb.2_Missense_Mutation_p.G246R|AKNAD1_uc001dwb.3_Intron	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	539										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCTGCGGCCCTCCTTGGGGT	0.657000														68			27		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7561562	7561562	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:7561562C>T	uc003src.1	-	4	850	c.733G>A	c.(733-735)Gga>Aga	p.G245R	COL28A1_uc011jxe.1_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	245	Collagen-like 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTGGATCTCCCTTCTCACAT	0.378000														58			18		0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24811049	24811049	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24811049C>T	uc003xee.3	-	3	1531	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	477	Tail, subdomain B (acidic).|Tail.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		tcctcctcctcGGCTTCTCCT	0.532000														17			6		0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	129986368	129986368	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:129986368C>T	uc010lmd.1	+	3	662	c.42C>T	c.(40-42)tcC>tcT	p.S14S	CPA5_uc003vps.2_Silent_p.S14S|CPA5_uc003vpt.2_Silent_p.S14S|CPA5_uc010lme.1_Silent_p.S14S|CPA5_uc003vpu.1_Silent_p.S14S	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	14					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CTGGGCCATCCCCCGTGGACA	0.632000														88			25		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167815251	167815251	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167815251G>A	uc001ger.3	-	19	2986	c.2688C>T	c.(2686-2688)tcC>tcT	p.S896S	ADCY10_uc010plj.2_Silent_p.S743S|ADCY10_uc009wvk.3_Silent_p.S804S|ADCY10_uc009wvl.3_Silent_p.S895S	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	896					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCAGAGACAAGGAACGATAGT	0.453000														99			11		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7110510	7110510	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7110510C>T	uc001mfc.2	+	0	346	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	53	RRM.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTTCGCGTTCGTCACCTTTG	0.592000														19			6		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136294	40136294	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:40136294G>A	uc021qgf.1	-	0	1549	c.1549C>T	c.(1549-1551)Cca>Tca	p.P517S	LRRC4C_uc001mxc.1_Missense_Mutation_p.P513S|LRRC4C_uc001mxd.1_Missense_Mutation_p.P513S|LRRC4C_uc001mxa.1_Missense_Mutation_p.P517S|LRRC4C_uc001mxb.1_Missense_Mutation_p.P513S	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	517					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCAATTCCTGGGATCCCACTG	0.473000														32			24		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232651033	232651033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:232651033G>A	uc001hvg.3	-	0	211	c.53C>T	c.(52-54)tCt>tTt	p.S18F		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	18					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAACTTTGAAGAGGCTCTGCC	0.453000														66			8		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276647	152276647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152276647C>T	uc001ezu.1	-	2	10751	c.10715G>A	c.(10714-10716)aGa>aAa	p.R3572K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3572	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCCATCTCTTGACTGCTC	0.557000									Ichthyosis					455			33		0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56236591	56236591	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56236591C>T	uc001sib.3	-	0	145	c.24G>A	c.(22-24)ctG>ctA	p.L8L	MMP19_uc001sia.3_5'Flank|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Silent_p.L8L	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	8					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						GTAGGAAGCCCAGCCACAGCT	0.637000														10			3		0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96213026	96213026	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:96213026C>T	uc004efu.4	+	15	2210	c.1814C>T	c.(1813-1815)cCa>cTa	p.P605L	DIAPH2_uc004eft.4_Missense_Mutation_p.P605L	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	605	FH1.|Poly-Pro.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	Golgi apparatus|cytosol|early endosome|mitochondrion|nucleolus	Rho GTPase binding|receptor binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GGACCTCCTCCACCACCACCC	0.517000														16			21		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81648080	81648080	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:81648080C>T	uc021ssk.1	-	8	921	c.921G>A	c.(919-921)aaG>aaA	p.K307K	TMC3_uc021ssj.1_Silent_p.K307K|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Silent_p.K307K	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	307						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTTTGCTTTTCTTTTTCTCCT	0.269000														63			13		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76417042	76417042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:76417042C>T	uc021rkq.1	+	24	4422	c.4087C>T	c.(4087-4089)Cct>Tct	p.P1363S	LMO7_uc010thv.2_Missense_Mutation_p.P1081S|LMO7_uc001vjt.1_Missense_Mutation_p.P1029S|LMO7_uc001vjv.3_Missense_Mutation_p.P1130S|LMO7_uc010thw.2_Missense_Mutation_p.P1007S|LMO7_uc001vjw.1_Missense_Mutation_p.P1036S	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1415						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGGTTTTCTTCCTGGTGACAG	0.328000														85			35		0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223154	44223154	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44223154C>T	uc002oxh.3	+	1	591	c.444C>T	c.(442-444)gtC>gtT	p.V148V	IRGC_uc021uvh.1_Silent_p.V148V	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	148						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GCGGGGCCGTCGAGACCCGCC	0.662000														17			4		0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58118530	58118530	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58118530C>T	uc002qpk.2	+	2	1857	c.1637C>T	c.(1636-1638)cCt>cTt	p.P546L	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_Intron	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAGAAAGGCCTTATGAGTGC	0.448000														136			11		0	0	1	0	0
OLFML3	56944	broad.mit.edu	37	1	114523091	114523091	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:114523091C>T	uc001eer.1	+	1	361	c.252C>T	c.(250-252)tcC>tcT	p.S84S	OLFML3_uc001ees.1_Silent_p.S64S|OLFML3_uc001eet.1_5'UTR	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	Homo sapiens olfactomedin-like 3 (OLFML3), mRNA.	84					multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACACCATCTCCGGGAGAGTGG	0.587000														79			14		0	0	1	0	0
TTLL13	440307	broad.mit.edu	37	15	90793899	90793899	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90793899G>A	uc002bpd.1	+	1	325	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	TTLL13_uc002bpe.1_Non-coding_Transcript	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	13					protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GGAATCAGAGGAAGACTATGT	0.473000														48			32		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30992021	30992021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:30992021G>A	uc010xbr.1	-	1	174	c.32C>T	c.(31-33)tCc>tTc	p.S11F	C18orf34_uc002kxn.2_Missense_Mutation_p.S11F|C18orf34_uc010dmf.1_Missense_Mutation_p.S11F|C18orf34_uc002kxo.2_Missense_Mutation_p.S11F|C18orf34_uc002kxp.3_Missense_Mutation_p.S11F	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	11										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						ATCTCTAGTGGAAGAAGAGGA	0.254000														48			15		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141607771	141607771	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141607771G>A	uc002tvj.1	-	28	5811	c.4839C>T	c.(4837-4839)ttC>ttT	p.F1613F	LRP1B_uc010fnl.1_Silent_p.F795F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1613					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D1612D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGATGCATCGAAGTCTATCA	0.373000										TSP Lung(27;0.18)				79			31		0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64873549	64873549	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:64873549G>A	uc010wqi.2	+	1	336	c.99G>A	c.(97-99)tgG>tgA	p.W33*	CACNG5_uc010wqj.2_Nonsense_Mutation_p.W33*	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	33					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCGACTACTGGCTGTACCTGG	0.607000														72			17		0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110988108	110988108	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:110988108C>T	uc011msy.2	+	23	3009	c.2908C>T	c.(2908-2910)Cca>Tca	p.P970S	ALG13_uc011msx.2_Intron|ALG13_uc011msz.2_Missense_Mutation_p.P892S|ALG13_uc011mta.2_Intron|ALG13_uc011mtb.2_Intron	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	970	Pro-rich.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						TTCCTGTGATCCAAGCGGCAG	0.463000														8			6		0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406808	75406808	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:75406808G>A	uc001jut.4	-	3	2754	c.2602C>T	c.(2602-2604)Ccc>Tcc	p.P868S	SYNPO2L_uc001jus.4_Missense_Mutation_p.P644S	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	868	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGAGTCGGGGGAACCTCATCA	0.582000														134			50		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167293777	167293777	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:167293777C>T	uc003fev.1	-	3	719	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	WDR49_uc003feu.1_5'Flank|WDR49_uc011bpd.1_Missense_Mutation_p.E192K|WDR49_uc003few.1_Missense_Mutation_p.E480K	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	139										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTGCTGGCTTCACTTTTCATT	0.408000														158			69		0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490215	150490215	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150490215C>T	uc022apx.1	-	3	687	c.561G>A	c.(559-561)tgG>tgA	p.W187*	TMEM176B_uc003whu.4_Nonsense_Mutation_p.W187*|TMEM176B_uc003whv.4_Nonsense_Mutation_p.W150*|TMEM176B_uc003whw.4_Nonsense_Mutation_p.W187*	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	187					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCTTCTGCCATTGGTTCT	0.527000														92			15		0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95403849	95403849	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:95403849G>A	uc003ygk.3	-	9	1928	c.1797C>T	c.(1795-1797)ttC>ttT	p.F599F	RAD54B_uc010may.2_Silent_p.F415F|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTATAGAGTTGAACAAAAGGC	0.408000								Direct reversal of damage;Homologous recombination						136			58		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189910578	189910578	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189910578C>T	uc002uqk.3	-	45	3532	c.3257G>A	c.(3256-3258)gGa>gAa	p.G1086E	COL5A2_uc010frx.3_Missense_Mutation_p.G662E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1086					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.G1086E(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GCCAGGAGTTCCAGGGGCACC	0.498000														84			34		0	0	1	0	0
ATG3	64422	broad.mit.edu	37	3	112251591	112251591	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:112251591G>A	uc003dzd.3	-	11	1010	c.900C>T	c.(898-900)gtC>gtT	p.V300V	ATG3_uc003dzc.3_3'UTR	NM_022488	NP_071933	Q9NT62	ATG3_HUMAN	Homo sapiens ATG3 autophagy related 3 homolog (S. cerevisiae) (ATG3), mRNA.	300					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						TTGTTGGAATGACAGCTTGTA	0.284000														56			32		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101797320	101797320	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:101797320C>T	uc004azb.1	+	17	2310	c.2104C>T	c.(2104-2106)Cct>Tct	p.P702S		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	702	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAGAGGCTTACCTGGACCCCC	0.612000														77			14		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140740765	140740765	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140740765C>T	uc003ljs.2	+	0	1063	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.P355S	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	358	Cadherin 4.				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)			AGTATCTACTCCCCTACCGGA	0.458000														60			21		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90079864	90079864	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:90079864G>A	uc003kju.3	+	66	13739	c.13643G>A	c.(13642-13644)gGa>gAa	p.G4548E	GPR98_uc003kjt.3_Missense_Mutation_p.G2254E|GPR98_uc003kjw.3_Missense_Mutation_p.G209E	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4548					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGACTCTTGGGAGAGATTCAG	0.363000														10			6		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122774533	122774533	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:122774533G>A	uc003vkm.3	-	7	888	c.863C>T	c.(862-864)tCc>tTc	p.S288F	SLC13A1_uc010lks.3_Missense_Mutation_p.S164F	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	288						integral to membrane|plasma membrane	sodium:sulfate symporter activity	p.F287L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AGCTGGGAAGGAAAACGTAAA	0.433000														58			21		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56954855	56954855	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56954855C>T	uc001njl.2	+	1	1074	c.927C>T	c.(925-927)ttC>ttT	p.F309F		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	279	Poly-Glu.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TCGTGGGCTTCGTGGTCTCCA	0.582000														68			20		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74607058	74607058	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:74607058A>G	uc002lmi.3	+	9	1699	c.1501A>G	c.(1501-1503)Atc>Gtc	p.I501V	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	501					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGTCCGCCACATCCGCATCCA	0.647000														130			44		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497196	149497196	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149497196G>A	uc003lro.3	-	21	3591	c.3122C>T	c.(3121-3123)tCc>tTc	p.S1041F	PDGFRB_uc010jhd.3_Missense_Mutation_p.S880F	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	1041					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAGGCTGGGGGAACCCTCCAG	0.612000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									55			18		0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172025193	172025193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:172025193G>A	uc003fhy.3	+	9	1274	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	FNDC3B_uc003fhz.4_Missense_Mutation_p.E368K|FNDC3B_uc003fia.3_Missense_Mutation_p.E299K	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	368	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ATCCTGCTCCGAGCCTGTTAG	0.502000														89			30		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81666408	81666408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:81666408G>A	uc021ssk.1	-	0	11	c.11C>T	c.(10-12)tCg>tTg	p.S4L	TMC3_uc021ssj.1_Missense_Mutation_p.S4L|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.S4L	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	4						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGATGCCTTCGAGGTTTTCAT	0.537000														32			7		0	0	1	0	0
TFAP2A	7020	broad.mit.edu	37	6	10410431	10410431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:10410431G>A	uc003myr.3	-	1	435	c.183C>T	c.(181-183)ccC>ccT	p.P61P	TFAP2A_uc003myq.3_Silent_p.P55P|TFAP2A_uc003mys.3_Intron|TFAP2A_uc011dih.2_Silent_p.P61P|TFAP2A_uc003myt.3_Silent_p.P57P|TFAP2A_uc003myu.1_Silent_p.P61P|TFAP2A_uc011dii.1_Silent_p.P57P|LOC100130275_uc003myw.3_5'Flank	NM_003220	NP_003211	P05549	AP2A_HUMAN	Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA.	61	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Golgi apparatus|centrosome|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TAGGCTGGTAGGGTGGGGGGA	0.657000														39			15		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31901450	31901450	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31901450A>T	uc011dor.2	+	2	584	c.320A>T	c.(319-321)cAt>cTt	p.H107L	CFB_uc003nyc.2_Missense_Mutation_p.M1L|CFB_uc011doo.2_Missense_Mutation_p.M1L|CFB_uc011dop.2_Missense_Mutation_p.H46L|CFB_uc003nye.4_Missense_Mutation_p.H169L|CFB_uc003nyf.3_Missense_Mutation_p.H169L|CFB_uc010jtk.3_Missense_Mutation_p.H37L|CFB_uc011doq.2_Missense_Mutation_p.H140L	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	183	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CGCTTTGGTCATGGGGACAAG	0.632000														70			24		0	0	1	0	0
ZRANB3	84083	broad.mit.edu	37	2	136111119	136111119	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136111119G>A	uc002tum.3	-	3	377	c.260C>T	c.(259-261)cCt>cTt	p.P87L	ZRANB3_uc002tuk.3_5'UTR|ZRANB3_uc002tul.3_Missense_Mutation_p.P87L|ZRANB3_uc002tun.1_Missense_Mutation_p.P27L	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	87	Helicase ATP-binding.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CAGAGACGAAGGGACCACTAT	0.358000														36			17		0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148545841	148545841	+	Missense_Mutation	SNP	C	T	T	rs114058679	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:148545841C>T	uc003ewl.3	+	1	147	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	42					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.R42H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TAACATAATCCGCGAGTTGGC	0.363000														84			27		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117308979	117308979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:117308979C>T	uc001lcg.3	+	25	4114	c.3728C>T	c.(3727-3729)tCc>tTc	p.S1243F	ATRNL1_uc010qsm.2_Missense_Mutation_p.S372F|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1243						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGTTTCCTATCCTTATTGCTG	0.313000														69			25		0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35804209	35804209	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35804209G>A	uc002nyy.2	+	10	1931	c.1733G>A	c.(1732-1734)gGa>gAa	p.G578E	MAG_uc002nyx.2_3'UTR|MAG_uc010eds.2_Missense_Mutation_p.G553E|MAG_uc002nyz.2_Missense_Mutation_p.G578E	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	578					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGGCGCCTGGGATCTGAGAGG	0.622000														89			16		0	0	1	0	0
SLC16A7	9194	broad.mit.edu	37	12	60168850	60168850	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:60168850C>T	uc001sqs.3	+	4	1073	c.774C>T	c.(772-774)ttC>ttT	p.F258F	SLC16A7_uc001sqt.3_Silent_p.F258F|SLC16A7_uc001squ.3_Silent_p.F258F|SLC16A7_uc009zqi.3_Silent_p.F159F|SLC16A7_uc010ssi.2_Silent_p.F159F	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	258						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TCATTATGTTCCTAGGTTTTT	0.363000														107			8		0	0	1	0	0
HMP19	51617	broad.mit.edu	37	5	173473792	173473792	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:173473792G>A	uc003mcx.3	+	1	179	c.34G>A	c.(34-36)Gga>Aga	p.G12R		NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	Homo sapiens HMP19 protein (HMP19), mRNA.	12					dopamine receptor signaling pathway	Golgi cisterna membrane|cytoplasmic vesicle membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)	15	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCGAGAAGGGAACCAAGCC	0.532000														103			39		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88769257	88769257	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:88769257G>A	uc001kee.2	+	11	2452	c.1248G>A	c.(1246-1248)acG>acA	p.T416T	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	416	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AGGGGCAGACGAAACCCTCAA	0.527000														158			59		0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12089447	12089447	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12089447C>T	uc010xmf.2	+	3	894	c.768C>T	c.(766-768)tcC>tcT	p.S256S	ZNF700_uc002msv.3_Silent_p.S239S|ZNF700_uc002msw.3_Silent_p.S236S|ZNF700_uc010xmg.2_Silent_p.S114S	NM_001012753	NP_001012771	Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 763 (ZNF763), mRNA.	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GTGTTAAATCCTTTAGTTATT	0.378000														84			28		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53671347	53671347	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53671347C>T	uc001sck.2	+	9	2270	c.2179C>T	c.(2179-2181)Cgt>Tgt	p.R727C	ESPL1_uc001scj.2_Missense_Mutation_p.R402C|ESPL1_uc010soe.1_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	727					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCAGGAAGATCGTTTCCTATA	0.502000														80			21		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99446978	99446978	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:99446978G>A	uc001tge.2	-	16	3152	c.2735C>T	c.(2734-2736)tCg>tTg	p.S912L	ANKS1B_uc001tgf.2_Missense_Mutation_p.S488L|ANKS1B_uc001tgk.3_Missense_Mutation_p.S209L|ANKS1B_uc001tgd.2_Missense_Mutation_p.S138L|ANKS1B_uc009ztr.3_Missense_Mutation_p.S138L|ANKS1B_uc001tgj.3_Missense_Mutation_p.S138L|ANKS1B_uc001tgi.3_Missense_Mutation_p.S138L|ANKS1B_uc009zts.2_Missense_Mutation_p.S138L|ANKS1B_uc001tgg.4_Missense_Mutation_p.S81L|ANKS1B_uc010svg.2_Missense_Mutation_p.S107L	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	912	SAM 2.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.S912L(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CAGGTCCATCGAAGTGTAGCC	0.408000														10			3		0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74134103	74134103	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74134103G>A	uc002jqx.3	-	2	952	c.597C>T	c.(595-597)ccC>ccT	p.P199P	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	199					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CCGCGTACTGGGGGTCAATGC	0.622000														25			14		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117663617	117663617	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:117663617G>A	uc003pxp.1	-	27	4814	c.4615C>T	c.(4615-4617)Cct>Tct	p.P1539S	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1539	Fibronectin type-III 6.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGTTCCAAAGGATCTGAATAA	0.333000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									49			6		0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8417209	8417209	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:8417209G>A	uc002glm.3	-	21	2604	c.2508C>T	c.(2506-2508)gcC>gcT	p.A836A	MYH10_uc002gll.3_Silent_p.A805A|MYH10_uc010cnx.3_Silent_p.A814A	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	805					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCTTGGCAAAGGCCCTGAAGA	0.453000														12			5		0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132527047	132527047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:132527047G>A	uc010sck.2	-	1	385	c.335C>T	c.(334-336)cCg>cTg	p.P112L	OPCML_uc001qgu.3_Missense_Mutation_p.P105L|OPCML_uc001qgs.3_Missense_Mutation_p.P112L|OPCML_uc001qgt.3_Missense_Mutation_p.P112L|OPCML_uc010scl.2_Missense_Mutation_p.P71L	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	112	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.P112L(2)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GCAGGTGTACGGACCTTCGTC	0.502000														89			22		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455136	70455136	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:70455136G>A	uc011caq.2	-	6	2152	c.2036C>T	c.(2035-2037)tCc>tTc	p.S679F	UGT2A1_uc010ihu.3_Missense_Mutation_p.S513F|UGT2A1_uc003hem.4_Missense_Mutation_p.S513F|UGT2A1_uc010ihs.3_Missense_Mutation_p.S522F|UGT2A1_uc021xox.1_Missense_Mutation_p.S478F|UGT2A1_uc010iht.3_Missense_Mutation_p.S469F	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	513					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTTTGACAGGAAAACAAACA	0.353000														62			23		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31127291	31127291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:31127291C>T	uc003tca.2	+	11	1224	c.935C>T	c.(934-936)cCt>cTt	p.P312L	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.P312L|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.P312L|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.P291L|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.P312L|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.P14L	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	312					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.P312N(2)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ATCAAAGGCCCTGTGGTTGGC	0.517000														64			24		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22915379	22915379	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22915379C>T	uc001bfx.1	+	4	1120	c.995C>T	c.(994-996)cCa>cTa	p.P332L	EPHA8_uc001bfw.3_Missense_Mutation_p.P332L	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	332	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCTCGGCACCAGTGAACCTG	0.587000														48			22		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37584296	37584296	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:37584296C>T	uc002yvg.3	+	6	884	c.805C>T	c.(805-807)Ctc>Ttc	p.L269F	DOPEY2_uc011aeb.2_Missense_Mutation_p.L269F	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	269					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						AGCCATCCCCCTCCTCAGATC	0.502000														85			25		0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9676110	9676110	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:9676110C>T	uc010vvb.2	-	4	717	c.704G>A	c.(703-705)gGa>gAa	p.G235E	DHRS7C_uc010cof.3_Missense_Mutation_p.G234E	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	235						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TTCCCAGTTTCCTTGCTCTGG	0.562000														23			17		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104164979	104164979	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104164979G>A	uc001kvg.1	-	12	2885	c.2358C>T	c.(2356-2358)ttC>ttT	p.F786F	PSD_uc001kvh.1_Silent_p.F407F|PSD_uc009xxd.1_Silent_p.F786F	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	786	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGATCCCGTGGAAGCTCTTCC	0.667000														57			41		0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45671756	45671756	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:45671756G>A	uc001cnd.2	-	0	495	c.267C>T	c.(265-267)atC>atT	p.I89I		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	89							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)					CGGGCTCCGGGATCCGCTCGA	0.677000														27			12		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57194407	57194407	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:57194407C>T	uc010kzo.3	-	2	329	c.58G>A	c.(58-60)Gac>Aac	p.D20N		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATAGCTATGTCTCTGAATGTC	0.413000														94			11		0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17629689	17629689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:17629689G>A	uc003ncd.1	-	17	2941	c.2741C>T	c.(2740-2742)cCt>cTt	p.P914L	NUP153_uc011dje.1_Missense_Mutation_p.P945L|NUP153_uc010jpl.1_Missense_Mutation_p.P872L	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	914					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AGTCTGAGAAGGCCCAGAAGA	0.413000														93			38		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104144428	104144428	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:104144428C>T	uc001tjw.3	+	59	6696	c.6510C>T	c.(6508-6510)ccC>ccT	p.P2170P	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2170					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGCAGCTGCCCATTGACCGCT	0.552000														52			18		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28474625	28474625	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:28474625G>A	uc001zbj.3	-	32	5207	c.5101C>T	c.(5101-5103)Cct>Tct	p.P1701S		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1701					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATTCCCTCAGGAATAAGTCTT	0.383000														106			45		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33588192	33588192	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33588192G>A	uc002xbi.2	+	38	5321	c.5004G>A	c.(5002-5004)gaG>gaA	p.E1668E		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1626						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGAAGATGGAGGGTGACCTCA	0.657000														95			43		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784959	9784959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:9784959C>T	uc003gmb.4	+	0	1702	c.1306C>T	c.(1306-1308)Cgc>Tgc	p.R436C		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	436					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.R436S(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TCCTTTCGATCGCATGTTCCA	0.557000														73			28		0	0	1	0	0
GLUD1	2746	broad.mit.edu	37	10	88818945	88818945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:88818945G>A	uc001keh.3	-	9	1614	c.1364C>T	c.(1363-1365)aCc>aTc	p.T455I	GLUD1_uc001keg.3_Missense_Mutation_p.T288I|GLUD1_uc010qmp.2_Missense_Mutation_p.T322I	NM_005271	NP_005262	P00367	DHE3_HUMAN	Homo sapiens glutamate dehydrogenase 1 (GLUD1), nuclear gene encoding mitochondrial protein, mRNA.	455					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|GTP binding|NAD+ binding|glutamate dehydrogenase|glutamate dehydrogenase activity|identical protein binding|leucine binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATATTTGAAGGTCAAACGGCC	0.398000														183			66		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6943094	6943094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6943094C>T	uc001qra.1	+	9	1370	c.1336C>T	c.(1336-1338)Ctt>Ttt	p.L446F	GPR162_uc001qrb.1_Missense_Mutation_p.L254F	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						GGCAGATGTCCTTCTCCTGGA	0.642000														79			21		0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900660	202900660	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:202900660C>T	uc002uyw.1	+	0	1351	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F		NM_003507	NP_003498	O75084	FZD7_HUMAN	Homo sapiens frizzled family receptor 7 (FZD7), mRNA.	430					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CGCCTCTGTTCGTCTACCTCT	0.627000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		99			30		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835772	61835772	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61835772G>A	uc001jky.3	-	36	5205	c.4867C>T	c.(4867-4869)Cga>Tga	p.R1623*	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.	1623	Ser-rich.				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						GGAGAGGTTCGAGAGGAAAAC	0.478000														89			30		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226715	39226715	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:39226715G>A	uc003cjk.2	-	1	4451	c.4222C>T	c.(4222-4224)Ccc>Tcc	p.P1408S	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.P91S|XIRP1_uc021wvz.1_Missense_Mutation_p.P1408S	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1408							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)		GTGGGCCTGGGGGCCGTGGTG	0.602000														54			22		0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58231851	58231851	+	Nonstop_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58231851A>T	uc002qpz.4	-	3	1702	c.1603T>A	c.(1603-1605)Taa>Aaa	p.*535K	ZNF551_uc002qpx.3_Intron|ZNF671_uc010eug.3_Nonstop_Mutation_p.*458K|ZNF671_uc010yhf.2_Nonstop_Mutation_p.*437K	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	Homo sapiens zinc finger protein 671 (ZNF671), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTACACTCTTAAAGCTTTTCT	0.483000														394			224		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189065014	189065014	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:189065014G>A	uc003izm.1	+	4	873	c.758_splice	c.e4+1	p.R253_splice	TRIML1_uc003izn.1_Splice_Site	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	253					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCCCTGGAAAGGTAGGCTTTC	0.493000														199			48		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143020469	143020469	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143020469G>A	uc003wcr.1	+	5	851	c.764G>A	c.(763-765)gGg>gAg	p.G255E	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Intron|CLCN1_uc010loy.1_Intron	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	255					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTGTTCTGCGGGGTATATGAG	0.602000														66			25		0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027859	92027859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92027859C>T	uc003ulw.2	+	19	3242	c.2866C>T	c.(2866-2868)Cct>Tct	p.P956S	ANKIB1_uc010lew.1_Missense_Mutation_p.P225S	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	956							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATCTAGTGATCCTGACTCAGC	0.493000														97			46		0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154284938	154284938	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:154284938G>A	uc003lvx.3	-	16	2577	c.2494C>T	c.(2494-2496)Cca>Tca	p.P832S	GEMIN5_uc011ddk.1_Missense_Mutation_p.P831S	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	832					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCTCTTTTGGTGGCTCCTTT	0.338000														85			24		0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116960807	116960807	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:116960807C>T	uc003viz.3	-	1	424	c.124G>A	c.(124-126)Gat>Aat	p.D42N	WNT2_uc003vja.3_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	42					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGCACATTATCGCACATCACC	0.592000														23			3		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90281242	90281242	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:90281242G>A	uc003kju.3	+	84	18151	c.18055G>A	c.(18055-18057)Gga>Aga	p.G6019R	GPR98_uc003kjt.3_Missense_Mutation_p.G3725R|GPR98_uc003kjw.3_Missense_Mutation_p.G1680R|GPR98_uc003kjx.3_Missense_Mutation_p.G47R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	6019					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTGAGTTGGGGACTACCAGC	0.418000														40			12		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501704	90501704	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90501704C>T	uc004app.4	+	3	2337	c.2302C>T	c.(2302-2304)Cat>Tat	p.H768Y	FAM75E1_uc004apo.1_Missense_Mutation_p.H580Y	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	768						integral to membrane											GCTGCAAATCCATCTGGCCAG	0.552000														56			18		0	0	1	0	0
VAMP7	6845	broad.mit.edu	37	X	155127867	155127867	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:155127867C>T	uc004fnr.3	+	3	474	c.296C>T	c.(295-297)cCa>cTa	p.P99L	VAMP7_uc011naa.2_Missense_Mutation_p.P60L|VAMP7_uc011nab.2_5'UTR|VAMP7_uc004fnt.3_Missense_Mutation_p.P58L|VAMP7_uc004fns.3_Missense_Mutation_p.P99L|VAMP7_uc011nac.2_Missense_Mutation_p.P32L	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	99	Longin.				ER to Golgi vesicle-mediated transport|calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	Golgi apparatus|SNARE complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|transport vesicle membrane	protein binding	p.P99P(1)|p.L98V(1)		large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACAGCACTTCCATATGCCATG	0.393000														116			58		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121630439	121630439	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121630439C>T	uc003eep.2	+	3	507	c.354C>T	c.(352-354)tcC>tcT	p.S118S	SLC15A2_uc011bjn.1_Intron	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	118					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	p.S118F(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TCTATCTCTCCTTGGTGTATG	0.418000														43			15		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12958036	12958036	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:12958036G>A	uc003wwm.2	-	8	2254	c.1810C>T	c.(1810-1812)Ccc>Tcc	p.P604S	DLC1_uc003wwk.1_Missense_Mutation_p.P167S|DLC1_uc003wwl.1_Missense_Mutation_p.P201S|DLC1_uc011kxx.1_Missense_Mutation_p.P93S	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	604					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCGTGGCTGGGGAGGCTGCCA	0.672000														86			10		0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5785466	5785466	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:5785466G>A	uc002mdc.3	-	11	1905	c.1808C>T	c.(1807-1809)cCc>cTc	p.P603L	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.3_Missense_Mutation_p.P361L	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	603					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CAGGTAGTAGGGCGGCCGCTC	0.682000														5			4		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124281801	124281801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124281801G>A	uc003ehg.3	+	33	5168	c.5041G>A	c.(5041-5043)Gag>Aag	p.E1681K	KALRN_uc003ehi.3_Missense_Mutation_p.E54K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1681	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E1681*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCGGCCCAGCGAGCGGCCTGG	0.657000														36			12		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157771953	157771953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157771953C>T	uc001frg.3	-	4	751	c.638G>A	c.(637-639)aGg>aAg	p.R213K	FCRL1_uc001frf.3_Splice_Site|FCRL1_uc001frh.3_Missense_Mutation_p.R213K|FCRL1_uc001fri.3_Missense_Mutation_p.R213K|FCRL1_uc001frj.3_Splice_Site	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	213	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTGGGAGCCCTGAGCATGAG	0.567000														44			28		0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113825664	113825664	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113825664C>T	uc001tve.2	+	10	1590	c.1555C>T	c.(1555-1557)Ccc>Tcc	p.P519S	PLBD2_uc001tvf.2_Missense_Mutation_p.P487S	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	519					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TGGCTCCTACCCCTTCCAGGC	0.637000														219			60		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140774646	140774646	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140774646G>A	uc003lkd.2	+	0	3164	c.2266G>A	c.(2266-2268)Gaa>Aaa	p.E756K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.E756K|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	761					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T756T(1)		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)			CTATTCCCAGGAAGTCTCCCT	0.562000														110			13		0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46757161	46757161	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46757161G>A	uc003cqe.1	-	2	816	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	PRSS50_uc021wxe.1_Missense_Mutation_p.P112S|PRSS50_uc003cqf.2_Missense_Mutation_p.P26S	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	112	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CTGAGGGTGGGGTCCTGCTCG	0.637000														13			3		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81647141	81647141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81647141C>T	uc001szl.1	+	13	1866	c.1775C>T	c.(1774-1776)cCc>cTc	p.P592L	ACSS3_uc001szm.1_Missense_Mutation_p.P591L|ACSS3_uc001szn.1_Missense_Mutation_p.P274L	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	592						mitochondrion	ATP binding|acetate-CoA ligase activity	p.D591V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AAGGAAGATCCCTTAAAAGGT	0.398000														216			53		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34775646	34775646	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34775646G>A	uc002xfb.3	+	7	1005	c.834G>A	c.(832-834)aaG>aaA	p.K278K	EPB41L1_uc002xeu.3_Silent_p.K216K|EPB41L1_uc010zvo.1_Silent_p.K278K|EPB41L1_uc002xev.3_Silent_p.K278K|EPB41L1_uc002xew.3_Silent_p.K181K|EPB41L1_uc002xex.3_Silent_p.K247K|EPB41L1_uc002xey.3_Silent_p.K205K|EPB41L1_uc002xez.3_Silent_p.K216K	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	278	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGAATGCCAAGAAGCTTTCCA	0.537000														35			12		0	0	1	0	0
NUDT21	11051	broad.mit.edu	37	16	56481894	56481894	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:56481894G>A	uc002eja.3	-	1	271	c.124C>T	c.(124-126)Ctt>Ttt	p.L42F		NM_007006	NP_008937	O43809	CPSF5_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 21 (NUDT21), mRNA.	42	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						TAATTGGTAAGAGGGTACCTG	0.393000														38			7		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145114840	145114840	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145114840G>A	uc003zar.3	-	1	178	c.96C>T	c.(94-96)gtC>gtT	p.V32V	OPLAH_uc003zat.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	32							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCAGTTTTAAGACCCGCACGT	0.667000														50			15		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1658192	1658192	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1658192G>A	uc002qxa.3	-	14	1990	c.1926C>T	c.(1924-1926)acC>acT	p.T642T	PXDN_uc002qxb.1_Silent_p.T642T	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	642					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AATGTGTTCGGGTTGAGTTTA	0.468000														46			6		0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47651609	47651609	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:47651609G>A	uc003crq.2	-	25	3108	c.2990C>T	c.(2989-2991)cCt>cTt	p.P997L	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Missense_Mutation_p.P888L	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	997	Pro-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		AGGGTAGGGAGGGGGCTGTTG	0.602000														113			12		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78320047	78320047	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:78320047C>T	uc002jyh.2	+	29	8202	c.8059C>T	c.(8059-8061)Ctc>Ttc	p.L2687F	RNF213_uc021uen.1_Missense_Mutation_p.L2638F	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTTTGTCAGCCTCAGGGACGT	0.537000														77			25		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56416316	56416316	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56416316C>T	uc010ygg.2	-	7	2635	c.2610G>A	c.(2608-2610)gaG>gaA	p.E870E		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	870							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ACTCCAGTCTCTCTAAGGCAC	0.413000														39			21		0	0	1	0	0
MEX3C	51320	broad.mit.edu	37	18	48703761	48703761	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:48703761G>A	uc002lfc.4	-	1	1301	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	Homo sapiens mex-3 homolog C (C. elegans) (MEX3C), mRNA.	314						cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		AATCCTCCCAGGGCAGGCCCA	0.507000														34			4		0	0	1	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145972622	145972622	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:145972622G>A	uc011dbv.2	-	9	1401	c.1138C>T	c.(1138-1140)Cat>Tat	p.H380Y	PPP2R2B_uc010jgm.3_Missense_Mutation_p.H311Y|PPP2R2B_uc003loe.3_Missense_Mutation_p.H322Y|PPP2R2B_uc003log.4_Missense_Mutation_p.H322Y|PPP2R2B_uc003lof.4_Missense_Mutation_p.H322Y|PPP2R2B_uc003loi.4_Missense_Mutation_p.H325Y|PPP2R2B_uc003loh.4_Missense_Mutation_p.H322Y|PPP2R2B_uc003lok.4_Missense_Mutation_p.H311Y|PPP2R2B_uc003loj.4_Missense_Mutation_p.H302Y|PPP2R2B_uc011dbu.2_Missense_Mutation_p.H328Y	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	322					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTAGTCATGAACCTGGAGA	0.393000														117			54		0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99456460	99456460	+	Missense_Mutation	SNP	C	T	T	rs45483397		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:99456460C>T	uc002bul.3	+	7	1827	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y	IGF1R_uc010urq.2_Missense_Mutation_p.H593Y|IGF1R_uc010bon.3_Missense_Mutation_p.H593Y|IGF1R_uc010urr.1_Missense_Mutation_p.H43Y	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	593	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GGAGAACGACCATATCCGTGG	0.552000														137			27		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272640	52272640	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52272640C>T	uc002pxr.3	+	1	774	c.729C>T	c.(727-729)ctC>ctT	p.L243L	FPR2_uc002pxs.4_Silent_p.L243L|FPR2_uc010epf.3_Silent_p.L243L|FPR2_uc021uyp.1_Silent_p.L243L	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	243					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TACGGGTCCTCACTGCTGTGG	0.498000														48			26		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13414658	13414658	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:13414658C>T	uc002mwy.3	-	15	2263	c.2027G>A	c.(2026-2028)gGg>gAg	p.G676E	CACNA1A_uc010dzc.2_Missense_Mutation_p.G202E|CACNA1A_uc010xnd.2_Missense_Mutation_p.G676E|CACNA1A_uc021ups.1_Missense_Mutation_p.G676E|CACNA1A_uc010xne.2_Missense_Mutation_p.G676E|CACNA1A_uc010dze.2_Missense_Mutation_p.G676E|CACNA1A_uc021upt.1_Missense_Mutation_p.G677E	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	677					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGACTTGATCCCGTCGTACAT	0.557000														74			121		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19047005	19047005	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19047005G>A	uc002dfp.2	+	6	995	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	TMC7_uc010vao.1_Missense_Mutation_p.E289K|TMC7_uc002dfq.3_Missense_Mutation_p.E289K|TMC7_uc010vap.2_Missense_Mutation_p.E179K	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	289						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CAGGTCGGTGGAAGGATTCAA	0.438000														83			16		0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53086630	53086630	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53086630C>T	uc001saw.3	-	5	1144	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	KRT77_uc009zmi.3_Missense_Mutation_p.G130E	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	372	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CAGGTCGTCTCCATGTCTCCC	0.587000														55			16		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17122442	17122442	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17122442G>A	uc002nfb.3	-	3	566	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	131						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCGTCTGGATGAATACAGAAG	0.657000														113			44		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36848065	36848065	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36848065G>A	uc002xhy.1	-	10	2795	c.2523C>T	c.(2521-2523)gtC>gtT	p.V841V	KIAA1755_uc002xhv.1_5'Flank|KIAA1755_uc002xhw.1_5'Flank|KIAA1755_uc002xhx.1_Silent_p.V119V	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	841										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCCCAGGCGGACACGGAGCT	0.622000														95			27		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504556	70504556	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:70504556G>A	uc001dep.3	+	18	2965	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K	LRRC7_uc009wbg.3_Missense_Mutation_p.E263K|LRRC7_uc001deq.3_Missense_Mutation_p.E220K	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	979						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						AGGAAGCCACGAACGACCGGA	0.453000														70			21		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739639	15739639	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15739639C>T	uc002nbi.3	+	12	1444	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	CYP4F8_uc010xoj.2_Silent_p.F273F	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	461					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TTATTCCTTTCTCGGCGGGGC	0.597000														85			28		0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111154973	111154973	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:111154973C>T	uc001plc.3	+	2	327	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	60										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		AGCCCTACTTCCCCCAGGAGC	0.662000														87			45		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389047	20389047	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20389047C>T	uc010tkw.2	+	0	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F94L(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCATATCTTTCAGTGGCTGCA	0.423000														212			106		0	0	1	0	0
ANO10	55129	broad.mit.edu	37	3	43596891	43596891	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:43596891G>A	uc003cmv.3	-	9	1718	c.1547C>T	c.(1546-1548)cCa>cTa	p.P516L	ANO10_uc011azs.2_Missense_Mutation_p.P516L|ANO10_uc003cmw.3_Missense_Mutation_p.P450L|ANO10_uc010hil.3_Missense_Mutation_p.P326L|ANO10_uc011azt.2_Missense_Mutation_p.P405L	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA.	516					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						AGCTGCTAATGGGTAAACACA	0.383000														83			24		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45127468	45127468	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:45127468C>T	uc003com.3	-	8	2308	c.2173G>A	c.(2173-2175)Ggg>Agg	p.G725R		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	725						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCCTTTCGCCCTTTCTGAAAC	0.488000														290			26		0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50139825	50139825	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:50139825G>A	uc002xwd.3	-	1	1175	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	NFATC2_uc002xwc.3_Missense_Mutation_p.P319S|NFATC2_uc010zyv.2_Missense_Mutation_p.P100S|NFATC2_uc010zyw.2_Missense_Mutation_p.P100S|NFATC2_uc002xwe.3_Missense_Mutation_p.P299S|NFATC2_uc010zyx.2_Missense_Mutation_p.P299S|NFATC2_uc010zyy.2_Missense_Mutation_p.P100S|NFATC2_uc010zyz.2_Missense_Mutation_p.P100S	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	319					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ATCTTGGGGGGGATCCCACAA	0.687000														30			16		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29012409	29012409	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29012409G>A	uc001usb.3	-	3	747	c.462C>T	c.(460-462)ctC>ctT	p.L154L	FLT1_uc010aar.1_Silent_p.L154L|FLT1_uc001usc.3_Silent_p.L154L|FLT1_uc010tdp.1_Silent_p.L154L	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	154	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGGGAATGACGAGCTCCCTTC	0.388000														20			41		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131519878	131519878	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:131519878C>T	uc021voy.1	+	0	233	c.233C>T	c.(232-234)cCc>cTc	p.P78L	FAM123C_uc002trw.2_Missense_Mutation_p.P78L|FAM123C_uc010fmv.2_Missense_Mutation_p.P78L|FAM123C_uc010fms.1_Missense_Mutation_p.P78L|FAM123C_uc010fmt.1_Missense_Mutation_p.P78L|FAM123C_uc010fmu.1_Missense_Mutation_p.P78L	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	78								p.G77R(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		AAAGGGGGACCCGCAGCCCTC	0.652000														10			7		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43771241	43771241	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:43771241G>A	uc010skx.2	-	31	4922	c.4922C>T	c.(4921-4923)cCt>cTt	p.P1641L		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1641	TSP type-1 14.					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)		CTGAGAGGAAGGCACCACAGG	0.408000														35			5		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31424182	31424183	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31424182_31424183CC>TT	uc010cap.1	+	14	1783_1784	c.1734_1735CC>TT	c.(1732-1737)tccccc>tcTTcc	p.P579S	ITGAD_uc002ebv.1_Missense_Mutation_p.P578S	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	578					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCCAGCTCTCCCCCAGGCTGCA	0.599000														85			47		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559433	20559433	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20559433C>T	uc002dhj.4	-	8	1259	c.1049G>A	c.(1048-1050)aGg>aAg	p.R350K	ACSM2B_uc002dhk.4_Missense_Mutation_p.R350K|ACSM2B_uc010bwf.1_Missense_Mutation_p.R350K	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	350					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGTCTGGGCCCTCCAGTTCTC	0.512000														205			45		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604454	140604454	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140604454C>T	uc003ljb.3	+	0	1377	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	459	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.607000														223			80		0	0	1	0	0
AQP12A	375318	broad.mit.edu	37	2	241631526	241631526	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241631526G>A	uc002vzu.3	+	1	228	c.159G>A	c.(157-159)ggG>ggA	p.G53G	AQP12A_uc002vzv.3_Intron	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN	Homo sapiens aquaporin 12A (AQP12A), mRNA.	53						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CCTGGGCTGGGGACTTTGGGC	0.697000														27			6		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60773266	60773266	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:60773266G>A	uc002sae.1	-	1	453	c.225C>T	c.(223-225)ctC>ctT	p.L75L	BCL11A_uc002sab.3_Silent_p.L75L|BCL11A_uc002sac.3_Silent_p.L75L|BCL11A_uc010ypi.2_5'UTR|BCL11A_uc010ypj.2_Silent_p.L75L|BCL11A_uc002saf.1_Silent_p.L75L|BCL11A_uc010fcg.3_Silent_p.L75L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	75	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTTCTAAGCAGAGGCTGCCAT	0.498000			T	IGH@	B-CLL									88			11		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106829885	106829885	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106829885G>A	uc021ser.1	-	518		c.15018C>T			abParts_uc001ysx.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GCTGCACCTGGGACAGGACCC	0.562000														44			20		0	0	1	0	0
HPGDS	27306	broad.mit.edu	37	4	95220653	95220653	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:95220653C>T	uc003hte.1	-	5	669	c.578G>A	c.(577-579)cGa>cAa	p.R193Q		NM_014485	NP_055300	O60760	HPGDS_HUMAN	Homo sapiens hematopoietic prostaglandin D synthase (HPGDS), mRNA.	193	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	TTGGGGCCTTCGTTTTATCCA	0.478000														57			35		0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230462	147230462	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:147230462G>A	uc021ovl.1	-	0	885	c.885C>T	c.(883-885)aaC>aaT	p.N295N	GJA5_uc001eps.1_Silent_p.N295N|GJA5_uc001ept.1_Silent_p.N295N	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	295					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CGGTGACCAGGTTGTCTGTGT	0.532000														133			31		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50339780	50339780	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:50339780C>T	uc004dpe.2	-	8	4423	c.4397G>A	c.(4396-4398)cGa>cAa	p.R1466Q	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1466	ASD2.				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)					CTCCAGCTCTCGCTGTTCAAT	0.502000														17			21		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13720097	13720097	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:13720097C>T	uc001rbt.2	-	11	2639	c.2460G>A	c.(2458-2460)ggG>ggA	p.G820G		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	820					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTAGAAGACCCCTGCCATGT	0.512000														74			20		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23886741	23886742	+	Silent	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23886741_23886742GG>AA	uc001wjx.3	-	30	4429_4430	c.4323_4324CC>TT	c.(4321-4326)gccctg>gcTTtg	p.1441_1442AL>AL		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1441					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCTTGTCCAGGGCTGCAGCAG	0.609000														121			42		0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46717501	46717501	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:46717501G>A	uc002eef.4	-	1	120	c.21C>T	c.(19-21)tcC>tcT	p.S7S	VPS35_uc002eee.3_5'UTR	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	7					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CATCCTGAGGGGACTGCTGTG	0.433000														28			5		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16235856	16235856	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16235856C>T	uc001axk.1	+	3	1126	c.922C>T	c.(922-924)Cga>Tga	p.R308*	SPEN_uc010obp.1_Nonsense_Mutation_p.R267*	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	308	Ser-rich.				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)		TTCTCCAGCTCGATCAGTTCA	0.443000														232			19		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67039548	67039548	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:67039548G>A	uc003xvv.3	+	0	271	c.45G>A	c.(43-45)caG>caA	p.Q15Q	TRIM55_uc003xvu.3_Silent_p.Q15Q|TRIM55_uc003xvw.3_Silent_p.Q15Q|TRIM55_uc003xvx.3_Silent_p.Q15Q	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	15						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AAGAGCAGCAGACCATGGATA	0.502000														103			26		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240341321	240341321	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240341321C>T	uc010pye.2	+	2	2108	c.1883C>T	c.(1882-1884)cCa>cTa	p.P628L	FMN2_uc010pyd.2_Missense_Mutation_p.P628L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	628					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATGGGGCCACCATCCAAACCT	0.493000														60			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640348	179640348	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179640348G>A	uc021vsy.1	-	27	6468	c.6243C>T	c.(6241-6243)ttC>ttT	p.F2081F	TTN_uc021vsz.1_Silent_p.F2035F|TTN_uc021vta.1_Silent_p.F2035F|TTN_uc021vtb.1_Silent_p.F2035F|TTN_uc002unb.2_Silent_p.F2081F|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2081	Ig-like 10.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F2035L(3)|p.F2081L(2)		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)			GGATTCTTTCGAAGATTTTTG	0.453000														73			29		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128492726	128492726	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128492726G>A	uc003vnz.4	+	35	6133	c.5924G>A	c.(5923-5925)aGc>aAc	p.S1975N	FLNC_uc003voa.4_Missense_Mutation_p.S1942N	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1975					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGTGATCTGAGCCAGCTGACC	0.647000														60			37		0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19018322	19018322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:19018322C>T	uc001bay.3	+	4	1259	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	PAX7_uc001baz.3_Missense_Mutation_p.R219W|PAX7_uc010oct.2_Missense_Mutation_p.R221W	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	221					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GCGACGCAGTCGGACCACATT	0.637000			T	FOXO1A	alveolar rhabdomyosarcoma									18			7		0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12820790	12820790	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12820790C>T	uc001auh.3	+	3	707	c.491C>T	c.(490-492)tCa>tTa	p.S164L		NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA.	164										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACTTATACTTCATCCTACCCC	0.567000														86			34		0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50401220	50401220	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:50401220G>A	uc002xwh.4	-	3	2847	c.2746C>T	c.(2746-2748)Cac>Tac	p.H916Y	SALL4_uc010gii.3_Missense_Mutation_p.H479Y|SALL4_uc002xwi.4_Missense_Mutation_p.H139Y	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	916					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCATGTAGTGAACCTATGGG	0.468000														64			19		0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102665589	102665589	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:102665589C>T	uc003vaq.2	-	5	843	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	FBXL13_uc010liq.1_5'UTR|FBXL13_uc010lir.1_Missense_Mutation_p.R139Q|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.R139Q|FBXL13_uc003vav.2_Non-coding_Transcript	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	139										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						AGAAGAACTTCGTTCAGGAAA	0.318000														44			7		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183312	13183312	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:13183312C>T	uc010obg.2	-	1	804	c.561G>A	c.(559-561)ttG>ttA	p.L187L		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	187						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TTATCTGGGTCAACTCCTGCT	0.438000														737			63		0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40900930	40900930	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40900930C>T	uc002onr.3	-	6	3598	c.3329G>A	c.(3328-3330)gGg>gAg	p.G1110E	PRX_uc002onq.3_Missense_Mutation_p.G971E|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1110	Glu-rich (acidic).				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)			CTCTGCCCTCCCTTCCTCCTG	0.667000														62			22		0	0	1	0	0
RNF186	54546	broad.mit.edu	37	1	20141519	20141519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:20141519G>A	uc001bcr.3	-	0	253	c.76C>T	c.(76-78)Cct>Tct	p.P26S		NM_019062	NP_061935	Q9NXI6	RN186_HUMAN	Homo sapiens ring finger protein 186 (RNF186), mRNA.	26						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCCAGCAGGGGCCACAGCG	0.652000														68			36		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13418631	13418631	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:13418631C>T	uc002mwy.3	-	14	2187	c.1951G>A	c.(1951-1953)Gat>Aat	p.D651N	CACNA1A_uc010dzc.2_Missense_Mutation_p.D177N|CACNA1A_uc010xnd.2_Missense_Mutation_p.D651N|CACNA1A_uc021ups.1_Missense_Mutation_p.D651N|CACNA1A_uc010xne.2_Missense_Mutation_p.D651N|CACNA1A_uc010dze.2_Missense_Mutation_p.D651N|CACNA1A_uc021upt.1_Missense_Mutation_p.D652N	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	652					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGAAAAGTATCGAAGTTGGTG	0.557000														84			22		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140773898	140773898	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140773898C>T	uc003lkd.2	+	0	2416	c.1518C>T	c.(1516-1518)tcC>tcT	p.S506S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.S506S|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	508	Cadherin 5.				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)			CGTATATCTCCATCAACTCTG	0.592000														83			8		0	0	1	0	0
AARD	441376	broad.mit.edu	37	8	117954928	117954928	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:117954928G>A	uc003yof.3	+	1	475	c.456G>A	c.(454-456)gcG>gcA	p.A152A		NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN	Homo sapiens chromosome 8 open reading frame 85 (C8orf85), mRNA.	152																	ATGATGCTGCGAATCCGGAAT	0.502000														67			19		0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46107906	46107906	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46107906G>A	uc003oxy.3	+	1	845	c.586G>A	c.(586-588)Gga>Aga	p.G196R		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	196						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CCACAAATACGGACCTGAAGA	0.383000														89			43		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	828709	828709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:828709G>A	uc002cjz.1	-	3	1013	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	71					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CTGGTCCCGGGGCAGCTGGCT	0.692000														5			3		0	0	1	0	0
NR0B2	8431	broad.mit.edu	37	1	27238410	27238410	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27238410C>T	uc001bnf.3	-	1	836	c.700G>A	c.(700-702)Gac>Aac	p.D234N	BC016143_uc021ojq.1_Intron	NM_021969	NP_068804	Q15466	NR0B2_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA.	234					cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		AAGAAGAGGTCCCCAAGCAGG	0.597000														130			34		0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169535587	169535588	+	Missense_Mutation	DNP	TC	CT	CT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:169535587_169535588TC>CT	uc003mai.4	+	1	1154_1155	c.1109_1110TC>CT	c.(1108-1110)ctc>cCT	p.L370P	FOXI1_uc003maj.4_Missense_Mutation_p.L275P	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	370					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA 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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTGGTGTCCTCTACCCCAGGG	0.574000									Pendred syndrome					86			35		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47278192	47278193	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47278192_47278193GG>AA	uc001cqn.4	+	3	476_477	c.392_393GG>AA	c.(391-393)ggg>gAA	p.G131E	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Missense_Mutation_p.G131E|CYP4B1_uc009vym.3_Missense_Mutation_p.G116E|CYP4B1_uc010omk.2_5'UTR|CYP4B1_uc010oml.1_5'UTR	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	131					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.G131V(2)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GTTCTTGAGGGGCCCAAGTGGT	0.589000														25			11		0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12760990	12760990	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12760990G>A	uc002mub.2	-	16	2169	c.2093C>T	c.(2092-2094)tCc>tTc	p.S698F	MAN2B1_uc010dyv.1_Missense_Mutation_p.S697F	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	698					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	p.S698S(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AACCACCTGGGAACACCAAGC	0.627000														134			14		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389216	48389216	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48389216G>A	uc001jez.3	-	0	1776	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	554	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACTGCATAAGGAAGGCGAACT	0.672000														49			27		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543050	28543050	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28543050C>T	uc003nlo.3	-	2	2050	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	478	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTCGGATATCCTCAGTTTGT	0.428000														79			36		0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24442461	24442461	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:24442461G>A	uc002kwa.3	-	1	195	c.132C>T	c.(130-132)gcC>gcT	p.A44A	CHST9-AS1_uc002kwb.2_5'Flank|CHST9-AS1_uc010xbm.2_5'Flank|AQP4_uc002kvz.3_Silent_p.A22A	NM_001650	NP_001641	P55087	AQP4_HUMAN	Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA.	44					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AAATAAGCATGGCCAGAAATT	0.488000														186			83		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40412180	40412180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40412180G>A	uc002omp.4	-	6	3456	c.3448C>T	c.(3448-3450)Ccg>Tcg	p.P1150S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1150	Cys-rich.|TIL 2.					extracellular region	protein binding	p.P1150P(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGGACAGCGGGCAGCCGTAG	0.622000														56			15		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111158873	111158873	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:111158873C>T	uc001vqx.3	+	45	4803	c.4514C>T	c.(4513-4515)cCa>cTa	p.P1505L		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1505	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCATGTGCCCAGTGGGCATG	0.652000														27			4		0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381657	156381657	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156381657C>T	uc003lwh.2	-	1	226	c.169G>A	c.(169-171)Gac>Aac	p.D57N	TIMD4_uc010jii.2_Missense_Mutation_p.D57N	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	57	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGCACTGGTCTTTCCCCCAG	0.527000														63			31		0	0	1	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954432	10954432	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10954432G>A	uc001qyv.3	-	0	795	c.738C>T	c.(736-738)gcC>gcT	p.A246A		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	Homo sapiens taste receptor, type 2, member 7 (TAS2R7), mRNA.	246					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						ACAAATAGTAGGCAATAAAGA	0.493000														56			14		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564328	176564328	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176564328G>A	uc001gkz.3	+	2	2752	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M	PAPPA2_uc001gky.1_Missense_Mutation_p.V530M|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	530	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTACCAGGTGGTGAACATCTG	0.527000														39			6		0	0	1	0	0
GJB2	2706	broad.mit.edu	37	13	20763336	20763336	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:20763336C>T	uc001umy.3	-	1	600	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	GJB2_uc021rha.1_Missense_Mutation_p.E129K	NM_004004	NP_003995	P29033	CXB2_HUMAN	Homo sapiens gap junction protein, beta 2, 26kDa (GJB2), mRNA.	129			E -> K (in DFNB1A).		cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	ER-Golgi intermediate compartment|connexon complex|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		AGGGAGCCTTCGATGCGGACC	0.507000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			20		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020752	5020752	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5020752C>T	uc010qyu.2	+	0	540	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCACGCCTTCTGTTTGCACC	0.473000														116			21		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513660	99513660	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:99513660G>A	uc003dti.1	+	2	1046	c.918G>A	c.(916-918)ggG>ggA	p.G306G	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Silent_p.G305G|COL8A1_uc003dth.1_Silent_p.G305G	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	305	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGGTACCGGGGGTTCAAGGAC	0.642000														30			16		0	0	1	0	0
NUP210P1	255330	broad.mit.edu	37	3	126386152	126386152	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:126386152C>T	uc003eje.1	+	3	604	c.360C>T	c.(358-360)acC>acT	p.T120T						Homo sapiens nucleoporin 210kDa pseudogene 1 (NUP210P1), non-coding RNA.																		GGTCTGTCACCAAGCGGGACA	0.602000														28			13		0	0	1	0	0
POLD2	5425	broad.mit.edu	37	7	44156455	44156455	+	Silent	SNP	G	A	A	rs142289447	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44156455G>A	uc010kxz.3	-	6	1391	c.741C>T	c.(739-741)ctC>ctT	p.L247L	POLD2_uc010kya.3_Silent_p.L247L|POLD2_uc003tkf.4_Silent_p.L247L	NM_006230	NP_006221	P49005	DPOD2_HUMAN	Homo sapiens polymerase (DNA directed), delta 2, regulatory subunit 50kDa (POLD2), transcript variant 2, mRNA.	247					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|base-excision repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						TGTGGCTGAGGAGGTTGCCAG	0.637000														48			18		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24209511	24209511	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24209511G>A	uc003xdy.3	+	20	2273	c.2190G>A	c.(2188-2190)atG>atA	p.M730I	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.M417I	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	730					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGAGTCAGATGAAGCCCCATG	0.383000														76			30		0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665616	20665616	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20665616C>T	uc010tlb.2	+	0	122	c.122C>T	c.(121-123)cCc>cTc	p.P41L		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTCAACAGCCCCAGCAACTCC	0.473000														47			8		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47559743	47559743	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47559743C>T	uc003gxk.1	+	11	2051	c.1887C>T	c.(1885-1887)ttC>ttT	p.F629F	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	629					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AAAGTCTTTTCCAGAGATGGT	0.448000														51			14		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21690356	21690356	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21690356G>A	uc002djh.3	+	3	122	c.121_splice	c.e3-1	p.E41_splice	LOC23117_uc021tel.1_Intron	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	41					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TTGCCTTTTAGGAAGAAATAA	0.383000														200			24		0	0	1	0	0
CCDC64B	146439	broad.mit.edu	37	16	3080783	3080783	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3080783C>T	uc002ctf.4	-	2	574	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	CCDC64B_uc002cte.4_5'UTR|CCDC64B_uc010bta.1_Silent_p.G76G	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN	Homo sapiens coiled-coil domain containing 64B (CCDC64B), mRNA.	177										breast(1)|endometrium(2)|large_intestine(1)	4						GCGTCCAGTTCCCTCTGAAGT	0.642000														12			4		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55202068	55202068	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:55202068C>A	uc003jql.3	+	8	1396	c.1204C>A	c.(1204-1206)Ctt>Att	p.L402I	IL31RA_uc003jqk.3_Missense_Mutation_p.L402I|IL31RA_uc011cqj.2_Missense_Mutation_p.L260I|IL31RA_uc003jqm.3_Missense_Mutation_p.L383I|IL31RA_uc003jqn.3_Missense_Mutation_p.L402I|IL31RA_uc010iwa.1_Missense_Mutation_p.L370I|IL31RA_uc021xyq.1_Missense_Mutation_p.L383I|IL31RA_uc003jqo.3_Missense_Mutation_p.L260I	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	370	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)				GCCCACCACCCTTTCCTGGGA	0.537000														46			19		2.70639e-06	2.71136e-06	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3227866	3227866	+	Missense_Mutation	SNP	C	T	T	rs149129110		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:3227866C>T	uc004crg.4	-	6	8535	c.8378G>A	c.(8377-8379)gGa>gAa	p.G2793E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2793	Ig-like C2-type 12.					extracellular region				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)				GGTCAGTGATCCCTGGGGGTG	0.502000														14			25		0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042352	75042352	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:75042352G>A	uc002ayr.1	+	1	337	c.273G>A	c.(271-273)ctG>ctA	p.L91L		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	91					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	TGAGCCGCCTGGACACCATCC	0.652000														85			14		0	0	1	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202914163	202914163	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:202914163G>A	uc001gyq.4	-	4	832	c.565C>T	c.(565-567)Ctc>Ttc	p.L189F	ADIPOR1_uc010pqd.2_Missense_Mutation_p.L113F|ADIPOR1_uc001gyr.4_Intron|ADIPOR1_uc001gys.4_Missense_Mutation_p.L189F	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA.	189					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GTGTGAAAGAGCCAGGAGAAG	0.448000														158			13		0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151376574	151376575	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151376574_151376575CC>TT	uc010ntk.1	-	6	916_917	c.676_677GG>AA	c.(676-678)gga>AAa	p.G226K		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	226					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			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTGTTCTTTCCGAGAGTCCAA	0.446000														35			56		0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67938308	67938308	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:67938308G>A	uc004dxb.3	+	5	1766	c.1552G>A	c.(1552-1554)Gga>Aga	p.G518R	STARD8_uc004dxa.3_Missense_Mutation_p.G438R|STARD8_uc004dxc.4_Missense_Mutation_p.G438R	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	438					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TGTGGAAGAAGGACACTCCAT	0.642000														8			16		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18892399	18892399	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:18892399C>T	uc003zne.4	+	25	4808	c.4656C>T	c.(4654-4656)acC>acT	p.T1552T	ADAMTSL1_uc003znf.4_Silent_p.T253T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1552	TSP type-1 8.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGATGGTGACCTCCTGGTCTG	0.612000														10			6		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141081603	141081603	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141081603C>T	uc002tvj.1	-	80	13345	c.12373G>A	c.(12373-12375)Gaa>Aaa	p.E4125K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4125					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATATAATCTTCAAAGATATCG	0.289000										TSP Lung(27;0.18)				111			38		0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43579536	43579536	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43579536G>A	uc002ovr.3	-	2	851	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	227	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region		p.R227C(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGGTCACTGCGGCTGGCACTC	0.527000														447			39		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34663181	34663181	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34663181G>A	uc001bxt.3	+	1	1514	c.676G>A	c.(676-678)Ggc>Agc	p.G226S	C1orf94_uc001bxs.4_Missense_Mutation_p.G36S	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	36							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGAGGACAGGGGCCGCATCCT	0.542000														57			21		0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100376662	100376662	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:100376662C>T	uc001ygr.3	+	12	1449	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	EML1_uc010tww.2_Silent_p.I429I|EML1_uc001ygq.3_Silent_p.I460I|EML1_uc001ygs.3_Silent_p.I441I	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	441						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GTGGCAACATCTTAGTATGGG	0.358000														60			23		0	0	1	0	0
WNT6	7475	broad.mit.edu	37	2	219736279	219736279	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219736279C>T	uc002vjc.1	+	2	589	c.374C>T	c.(373-375)tCt>tTt	p.S125F		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 6 (WNT6), mRNA.	125					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGCCTGTTCTATGGGCGAG	0.741000														21			9		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183087	13183087	+	Silent	SNP	C	T	T	rs144171787		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:13183087C>T	uc010obg.2	-	1	1029	c.786G>A	c.(784-786)caG>caA	p.Q262Q		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	262						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										GGTTGTCCCCCTGATCTTCAT	0.468000														101			15		0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42815746	42815746	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:42815746C>T	uc010goq.3	+	8	1307	c.961C>T	c.(961-963)Ccc>Tcc	p.P321S	MX1_uc002yzh.3_Missense_Mutation_p.P321S|MX1_uc002yzi.3_Missense_Mutation_p.P321S	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	321					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GGCCACGGTTCCCTGCCTGGC	0.507000														135			40		0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147561322	147561322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:147561322C>T	uc003ikv.3	+	1	840	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	198					MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCACCTGAGTCCCGGGCTGGC	0.711000														10			4		0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3753941	3753941	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3753941G>A	uc001aky.2	-	8	1393	c.1034C>T	c.(1033-1035)cCt>cTt	p.P345L	CEP104_uc010nzm.1_Non-coding_Transcript|CEP104_uc001akz.3_Missense_Mutation_p.P345L	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	345						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						ATATGATGAAGGCTTTTCCTG	0.448000														42			18		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38886150	38886150	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38886150G>A	uc003jln.2	+	6	1251	c.849G>A	c.(847-849)ggG>ggA	p.G283G	OSMR_uc003jlm.2_Silent_p.G283G	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	283					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GATTTTCTGGGGAAAAGAAAC	0.333000														43			22		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50683829	50683829	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:50683829G>A	uc002lfe.2	+	7	1981	c.1365G>A	c.(1363-1365)gcG>gcA	p.A455A	DCC_uc010xdr.1_Silent_p.A303A|DCC_uc010dpf.2_Silent_p.A110A	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	455	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGCAGAAGCGAAAGGGAACA	0.502000														97			36		0	0	1	0	0
ENTPD2	954	broad.mit.edu	37	9	139945765	139945765	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139945765G>T	uc004ckw.2	-	3	498	c.444C>A	c.(442-444)acC>acA	p.T148T	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Silent_p.T148T	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	148						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGGGGTACTGGGTCAGTGTGT	0.582000														60			24		3.73988e-18	3.75935e-18	1	1	0
SLC4A1AP	22950	broad.mit.edu	37	2	27907940	27907940	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27907940C>T	uc002rlk.4	+	9	2194	c.1912C>T	c.(1912-1914)Cta>Tta	p.L638L		NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.	638						cytoplasm|nucleus	double-stranded RNA binding|protein binding	p.T637A(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CCCTCCAACTCTAATGAGAAT	0.408000														103			17		0	0	1	0	0
SNAI1	6615	broad.mit.edu	37	20	48600619	48600619	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:48600619C>T	uc002xuz.3	+	1	425	c.341C>T	c.(340-342)tCc>tTc	p.S114F		NM_005985	NP_005976	O95863	SNAI1_HUMAN	Homo sapiens snail homolog 1 (Drosophila) (SNAI1), mRNA.	114					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TCGTCCTTCTCCTCTACTTCA	0.632000														154			13		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046640	42046641	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:42046640_42046641GG>AA	uc001cgz.4	-	3	5041_5042	c.3828_3829CC>TT	c.(3826-3831)tccccc>tcTTcc	p.P1277S	HIVEP3_uc001cha.4_Missense_Mutation_p.P1277S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1277					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCTGTGCTGGGGGAGAGGCCAG	0.614000														49			5		0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139346559	139346559	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:139346559C>T	uc003etj.3	-	0	48	c.8G>A	c.(7-9)aGc>aAc	p.S3N	NMNAT3_uc010hul.3_Missense_Mutation_p.S3N|NMNAT3_uc003etk.3_Intron|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	3					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						AGGTATTCGGCTCTTCATCTT	0.522000														15			3		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430867	43430867	+	Splice_Site	SNP	C	T	T	rs145405049		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43430867C>T	uc002ovl.4	-	5	809	c.707_splice	c.e5-1	p.P236_splice	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Splice_Site_p.P115_splice	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	237				LNLLP -> IIVPV (in Ref. 3).	female pregnancy	extracellular region							Prostate(69;0.00682)				TGGGCAGCTTCGCTGTGTGAA	0.473000														282			59		0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981621	70981621	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:70981621G>A	uc003xym.3	-	1	677	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCAGGTAACAGAGAAGCATCC	0.562000														52			8		0	0	1	0	0
ARRDC4	91947	broad.mit.edu	37	15	98512567	98512567	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:98512567C>T	uc010bom.3	+	4	999	c.840C>T	c.(838-840)tcC>tcT	p.S280S	ARRDC4_uc002bui.4_Silent_p.S193S	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA.	280					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TTACTCCATCCATCCTGGATT	0.428000														59			60		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131908343	131908343	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:131908343G>A	uc003vra.4	-	8	2269	c.2040C>T	c.(2038-2040)gtC>gtT	p.V680V		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	680	PSI 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATGGGTGCAGACATGCCGGT	0.587000														22			8		0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39792036	39792036	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:39792036C>T	uc002xjp.1	+	8	929	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	PLCG1_uc002xjo.1_Missense_Mutation_p.R270C|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.3_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	270					T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGCTGTTGATCGCCTCCAGGT	0.602000														56			22		0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665659	20665659	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20665659C>T	uc010tlb.2	+	0	165	c.165C>T	c.(163-165)ttC>ttT	p.F55F		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCCTGGGCTTCCCTTGCCCCA	0.512000														55			19		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	107914328	107914329	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:107914328_107914329GG>AA	uc001tmk.1	+	1	1721_1722	c.1200_1201GG>AA	c.(1198-1203)ggggaa>ggAAaa	p.E401K	BTBD11_uc009zut.1_Missense_Mutation_p.E401K|BTBD11_uc001tmj.3_Missense_Mutation_p.E401K	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	401						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACAAGCCAGGGGAACTGCCCAT	0.550000														126			16		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110857886	110857886	+	Splice_Site	SNP	C	T	T	rs111267529		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:110857886C>T	uc001vqw.4	-	16	981	c.859_splice	c.e16-1	p.G287_splice		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	287	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CGGGTTTGCCCTGTAGAATAA	0.483000														175			41		0	0	1	0	0
FAM40A	85369	broad.mit.edu	37	1	110596312	110596312	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110596312C>T	uc001dza.1	+	20	2311	c.2292C>T	c.(2290-2292)ttC>ttT	p.F764F	FAM40A_uc001dyz.1_Silent_p.F669F|FAM40A_uc009wfp.1_Silent_p.F588F	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	Homo sapiens family with sequence similarity 40, member A (FAM40A), mRNA.	764						nucleus	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)	23		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		CTTGGGACTTCCAGGCAGAGG	0.582000											OREG0013647	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			46		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25572670	25572670	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:25572670G>A	uc002kwg.2	-	8	1752	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	CDH2_uc010xbn.1_Silent_p.F400F	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	431	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCTGGATGGCGAACCGTCCAG	0.527000														84			31		0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348996	30348996	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:30348996C>T	uc002hgu.3	+	0	842	c.831C>T	c.(829-831)tcC>tcT	p.S277S	LRRC37B_uc010wbx.2_Silent_p.S195S|LRRC37B_uc010csu.3_Silent_p.S277S	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	277						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ACATCCAGTCCTCTTCACTCC	0.552000														85			91		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408483	10408483	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10408483C>T	uc002gmo.3	-	20	2526	c.2432G>A	c.(2431-2433)aGa>aAa	p.R811K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	811	IQ.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTAATACCTTCTTTCCACCAT	0.418000														71			26		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7295530	7295530	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7295530C>T	uc001qss.3	+	9	2180	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	CLSTN3_uc001qsr.3_Missense_Mutation_p.R536C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	536					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GCGCTCAGGTCGCCTGGAGAG	0.587000														45			17		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135561028	135561028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:135561028C>T	uc003lbn.2	-	9	2499	c.2277G>A	c.(2275-2277)caG>caA	p.Q759Q	TRPC7_uc010jef.2_Silent_p.Q695Q|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.Q310Q|TRPC7_uc010jeh.2_Silent_p.Q698Q|TRPC7_uc010jei.2_Silent_p.Q643Q	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	759					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCATGCCAGCCTGGTAGCGAG	0.453000														18			10		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48389692	48389692	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48389692C>T	uc001rqu.3	-	8	801	c.620G>A	c.(619-621)gGa>gAa	p.G207E	COL2A1_uc001rqv.3_Missense_Mutation_p.G138E	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	207	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCCTCGAGGTCCCATGGGGCC	0.542000														62			31		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149477052	149477052	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149477052C>T	uc010lpk.3	+	10	1229	c.1229C>T	c.(1228-1230)tCc>tTc	p.S410F	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	410					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCAGGTTTCCCCTGCTGAG	0.582000														8			11		0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67219123	67219123	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67219123G>A	uc001olm.3	-	0	1078	c.1073C>T	c.(1072-1074)cCt>cTt	p.P358L	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	358						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GTTCACCTGAGGCTGGGCCAC	0.627000														38			22		0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41839448	41839448	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:41839448G>A	uc010lxb.3	-	4	1278	c.734C>T	c.(733-735)tCc>tTc	p.S245F	KAT6A_uc010lxc.3_Missense_Mutation_p.S245F|KAT6A_uc003xon.4_Missense_Mutation_p.S245F|KAT6A_uc010lxd.3_Missense_Mutation_p.S245F	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	245					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TAGTTCAGGGGAAAACTTTAA	0.413000														24			10		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	107914285	107914285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:107914285G>A	uc001tmk.1	+	1	1678	c.1157G>A	c.(1156-1158)aGc>aAc	p.S386N	BTBD11_uc009zut.1_Missense_Mutation_p.S386N|BTBD11_uc001tmj.3_Missense_Mutation_p.S386N	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	386						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTACCAGACAGCCTGAATCTT	0.527000														125			30		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106693	55106693	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55106693G>A	uc002qgh.1	+	4	669	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.E163K	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	163	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGGAGAAGATGAACACCCACA	0.587000														145			56		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881631	26881631	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:26881631C>T	uc003jgs.1	-	11	2153	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K	CDH9_uc011cnv.1_Missense_Mutation_p.E255K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	662					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D661Y(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCGCCGCCTTCATCGTTGTAG	0.438000														129			72		0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23731354	23731354	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:23731354G>A	uc002wtp.3	-	0	221	c.150C>T	c.(148-150)ttC>ttT	p.F50F		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	50						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CGCTGATGGCGAAGTGAAGGG	0.572000														76			11		0	0	1	0	0
C19orf55	148137	broad.mit.edu	37	19	36255969	36255969	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36255969C>T	uc021usz.1	+	6	734	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	221	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCCTCAGCCCCAGCGATGC	0.627000														213			56		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52571623	52571623	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:52571623G>T	uc002lfs.3	-	11	1146	c.974C>A	c.(973-975)tCc>tAc	p.S325Y	CCDC68_uc002lft.3_Missense_Mutation_p.S325Y	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	325										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TAAATAAGGGGAAACACCTTC	0.378000														58			15		1.02788e-11	1.03177e-11	1	1	0
IL33	90865	broad.mit.edu	37	9	6254512	6254512	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:6254512G>A	uc003zjt.3	+	6	649	c.571G>A	c.(571-573)Gac>Aac	p.D191N	IL33_uc011lmg.2_Missense_Mutation_p.D149N|IL33_uc011lmh.2_Missense_Mutation_p.D65N|IL33_uc022bdf.1_Missense_Mutation_p.D149N	NM_033439	NP_254274	O95760	IL33_HUMAN	Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.	191					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		TCCTACAAAAGACTTCTGGTT	0.328000														41			6		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37251039	37251039	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:37251039C>T	uc022abv.1	-	12	1748	c.1038G>A	c.(1036-1038)gaG>gaA	p.E346E	ELMO1_uc011kbc.2_Silent_p.E250E|ELMO1_uc003tfk.2_Silent_p.E346E|ELMO1_uc010kxg.2_Silent_p.E346E	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	346	ELMO.				Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACTTGCGTTTCTCCATGCTGC	0.488000														63			21		0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962660	41962660	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:41962660C>T	uc004aca.4	-	2		c.849G>A								Homo sapiens keratinocyte growth factor-like protein 2 (KGFLP2), non-coding RNA.																		ATTTCCCCTCCGTTGTTTGTC	0.363000														47			5		0	0	1	0	0
HOXA5	3202	broad.mit.edu	37	7	27182802	27182802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:27182802C>T	uc003syn.2	-	0	486	c.425G>A	c.(424-426)gGg>gAg	p.G142E	HOXA-AS3_uc003syr.2_Intron	NM_019102	NP_061975	P20719	HXA5_HUMAN	Homo sapiens homeobox A5 (HOXA5), mRNA.	142					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CGTGCCAACCCCCTCTCTGCT	0.736000														60			24		0	0	1	0	0
SEPW1	6415	broad.mit.edu	37	19	48284381	48284381	+	Missense_Mutation	SNP	C	T	T	rs11551813		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:48284381C>T	uc021uwp.1	+	3	326	c.125C>T	c.(124-126)cCc>cTc	p.P42L	SEPW1_uc002pho.1_5'Flank	NM_003009	NP_003000	P63302	SELW_HUMAN	Homo sapiens selenoprotein W, 1 (SEPW1), mRNA.	42					cell redox homeostasis	cytoplasm	selenium binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		all cancers(93;0.000291)|OV - Ovarian serous cystadenocarcinoma(262;0.000305)|Epithelial(262;0.0146)|GBM - Glioblastoma multiforme(486;0.0273)		GAGGGAACTCCCCAGGCCACC	0.572000														227			39		0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133654618	133654618	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:133654618C>T	uc003eqa.4	-	13	2088	c.1814_splice	c.e13+1	p.R605_splice		NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	605					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GGGCCCTCACCTGTCTCGGAG	0.597000														35			19		0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37146532	37146532	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:37146532C>T	uc002xiw.3	+	8	1563	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	RALGAPB_uc010zvz.1_Missense_Mutation_p.R436W|RALGAPB_uc002xix.3_Missense_Mutation_p.R436W|RALGAPB_uc002xiy.1_Missense_Mutation_p.R436W|RALGAPB_uc002xiz.3_Missense_Mutation_p.R214W|RALGAPB_uc002xja.1_Missense_Mutation_p.R163W	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	436					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity	p.R436R(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GCCTGCCCCTCGGAGACCAAA	0.468000														75			41		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66944318	66944318	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:66944318G>A	uc002eql.3	-	14	2206	c.2012C>T	c.(2011-2013)cCc>cTc	p.P671L	CDH16_uc010cdy.3_Missense_Mutation_p.P649L|CDH16_uc021tjx.1_Intron|CDH16_uc002eqm.3_Missense_Mutation_p.P574L	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	671	Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTATTGGGAGGGCACAGGGGC	0.632000														81			28		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64756126	64756126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:64756126C>T	uc003jtp.3	-	3	1316	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	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.	168					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)		TTTAAAGGTTCGATAAAATAC	0.313000														128			22		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186006591	186006591	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:186006591G>A	uc003fqa.3	-	5	989	c.452C>T	c.(451-453)tCt>tTt	p.S151F	DGKG_uc003fqb.3_Missense_Mutation_p.S151F|DGKG_uc003fqc.3_Missense_Mutation_p.S151F|DGKG_uc011brx.2_Missense_Mutation_p.S151F	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	151	Poly-Ser.				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)	CGAGCTTGAAGACCGAGGGAC	0.552000														264			110		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793123	21793124	+	Missense_Mutation	DNP	AC	CA	CA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21793123_21793124AC>CA	uc001wag.3	+	13	2109_2110	c.2109_2110AC>CA	c.(2107-2112)atacac>atCAac	p.H704N	RPGRIP1_uc001wah.3_Missense_Mutation_p.H346N|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.H169N|RPGRIP1_uc001wak.3_Missense_Mutation_p.H179N|RPGRIP1_uc010aim.3_Missense_Mutation_p.H87N|RPGRIP1_uc001wal.3_Missense_Mutation_p.H63N|RPGRIP1_uc001wam.3_Missense_Mutation_p.H21N	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	704					response to stimulus|visual perception	cilium		p.I703I(1)|p.I319I(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGCTTGACATACACCAGGCCAT	0.530000														128			50		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857960	9857960	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:9857960G>A	uc010uym.2	-	13	3751	c.3441C>T	c.(3439-3441)ttC>ttT	p.F1147F	GRIN2A_uc002czo.4_Silent_p.F1147F|GRIN2A_uc010uyn.2_Silent_p.F990F|GRIN2A_uc002czr.4_Silent_p.F1147F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1147					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGGGTCCGGGAAGTCCACGT	0.527000														112			32		0	0	1	0	0
CLRN3	119467	broad.mit.edu	37	10	129682033	129682033	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:129682033G>A	uc001lka.1	-	1	499	c.336C>T	c.(334-336)ttC>ttT	p.F112F	CLRN3_uc001ljz.1_Silent_p.F44F	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	Homo sapiens clarin 3 (CLRN3), mRNA.	112						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				TGCTGTTGTAGAAGGTAAACC	0.532000														90			44		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105421084	105421084	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105421084C>T	uc010axc.1	-	6	824	c.704G>A	c.(703-705)gGa>gAa	p.G235E	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.G135E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	235						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCCCATCTCCTTCCAGAGT	0.537000														24			14		0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1963716	1963716	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:1963716C>T	uc010gaj.3	-	1	257	c.15G>A	c.(13-15)ggG>ggA	p.G5G	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Silent_p.G5G|PDYN_uc021vzt.1_Silent_p.G5G|PDYN_uc021vzu.1_Silent_p.G5G|PDYN_uc002wfv.3_Silent_p.G5G	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	5					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						CCAGGACCAGCCCCTGCCAGG	0.567000														42			8		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186541233	186541233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:186541233C>T	uc003iyg.3	-	13	2950	c.2918G>A	c.(2917-2919)gGa>gAa	p.G973E	SORBS2_uc003iyh.3_Missense_Mutation_p.G583E|SORBS2_uc011ckw.2_Missense_Mutation_p.G420E|SORBS2_uc003iyi.3_Missense_Mutation_p.G490E|SORBS2_uc011ckx.2_Missense_Mutation_p.G425E|SORBS2_uc003iyk.3_Missense_Mutation_p.G403E|SORBS2_uc003iym.3_Missense_Mutation_p.G959E|SORBS2_uc003iyl.3_Missense_Mutation_p.G859E|SORBS2_uc003iyn.1_Missense_Mutation_p.G450E|SORBS2_uc011cku.2_Missense_Mutation_p.G251E|SORBS2_uc011ckv.2_Missense_Mutation_p.G763E|SORBS2_uc003iyd.3_Missense_Mutation_p.G558E|SORBS2_uc003iye.3_Missense_Mutation_p.G432E|SORBS2_uc003iya.3_Missense_Mutation_p.G379E|SORBS2_uc003iyb.3_Missense_Mutation_p.G332E|SORBS2_uc003iyc.3_Missense_Mutation_p.G312E|SORBS2_uc003iyf.3_Missense_Mutation_p.G395E|SORBS2_uc003iyo.1_Missense_Mutation_p.G308E	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	859	SH3 2.					Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TTCTGGAGTTCCTCTTCTTTC	0.438000														232			94		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583248	82583248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82583248C>T	uc003uhx.2	-	4	7310	c.7021G>A	c.(7021-7023)Gat>Aat	p.D2341N	PCLO_uc003uhv.2_Missense_Mutation_p.D2341N|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2272	Poly-Pro.|Pro-rich.				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						GGTGGGTGATCAAACACGGTT	0.423000														100			38		0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	769447	769447	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:769447C>T	uc010krz.1	+	1	763	c.743C>T	c.(742-744)tCc>tTc	p.S248F	PRKAR1B_uc021zyj.1_5'Flank|PRKAR1B_uc021zyk.1_5'Flank|PRKAR1B_uc003siw.2_5'Flank|HEATR2_uc003siz.2_Missense_Mutation_p.S116F	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	248							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GACGTGCTTTCCCATTTTGCT	0.572000														37			18		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482341	142482341	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142482341G>A	uc011ksq.2	+	4	804	c.721G>A	c.(721-723)Gac>Aac	p.D241N	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CTGGATTAAGGACACCATAGC	0.502000														106			28		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39678528	39678528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39678528C>T	uc003xnj.3	-	5	581	c.506G>A	c.(505-507)aGc>aAc	p.S169N	ADAM2_uc003xnk.3_Missense_Mutation_p.S169N|ADAM2_uc011lck.2_Missense_Mutation_p.S169N|ADAM2_uc003xnl.3_Missense_Mutation_p.S169N	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	169					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)		TACCTCTACGCTTTGTAATTT	0.294000														75			31		0	0	1	0	0
PPP1R1A	5502	broad.mit.edu	37	12	54976578	54976578	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54976578G>A	uc001sgg.2	-	4	355	c.184_splice	c.e4-1	p.S62_splice		NM_006741	NP_006732	Q13522	PPR1A_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1A (PPP1R1A), mRNA.	62					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						TGCCAAAGTGGACTGTGAAGG	0.597000														43			25		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580655	7580655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7580655G>A	uc003mxp.1	+	22	4511	c.4232G>A	c.(4231-4233)aGg>aAg	p.R1411K	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1411	Central fibrous rod domain.				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)		GAAATAAAGAGGCTGAAGAAC	0.498000														52			32		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64981565	64981565	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:64981565G>A	uc002eoi.3	-	12	2766	c.2332C>T	c.(2332-2334)Cgt>Tgt	p.R778C	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_3'UTR|CDH11_uc010vin.2_Missense_Mutation_p.R652C	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	778					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTCTTAAAACGAGGTCCCCAG	0.458000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				140			18		0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93637034	93637034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:93637034G>A	uc004aqz.3	+	8	1289	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	SYK_uc004ara.3_Missense_Mutation_p.E339K|SYK_uc004arb.3_Missense_Mutation_p.E339K|SYK_uc004arc.3_Missense_Mutation_p.E362K|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	362	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CAGGCCCAAGGAGGTTTACCT	0.527000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									210			45		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25839905	25839905	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:25839905G>A	uc001isj.3	+	6	1465	c.1405_splice	c.e6-1	p.V469_splice		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	469						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CATCCCACAGGTTGTTATTTT	0.408000														85			28		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54308037	54308037	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54308037C>T	uc021smr.1	+	0	2937	c.2937C>T	c.(2935-2937)gcC>gcT	p.A979A	UNC13C_uc021sms.1_Silent_p.A979A	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	979					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)		CTTTAAGGGCCTATAAAAAGC	0.383000														11			4		0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	633625	633625	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:633625C>T	uc002cho.3	+	9	2412	c.2274C>T	c.(2272-2274)gtC>gtT	p.V758V	PIGQ_uc010bqw.3_3'UTR|PIGQ_uc002chn.3_3'UTR|PIGQ_uc010uui.2_3'UTR|PIGQ_uc002chp.3_Silent_p.V328V|PIGQ_uc010uuj.2_Missense_Mutation_p.R54Q	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	758					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTGGAGAGGTCGCTTTGTGAA	0.647000														52			24		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39089647	39089647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39089647G>A	uc003xmt.4	+	14	1872	c.1627G>A	c.(1627-1629)Gga>Aga	p.G543R	ADAM32_uc011lch.2_Missense_Mutation_p.G444R|ADAM32_uc003xmu.4_Missense_Mutation_p.G437R|ADAM32_uc003xmv.3_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	543					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGTGTTCTGTGGATGGAGGTA	0.338000														73			15		0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68910518	68910518	+	Silent	SNP	G	A	A	rs62642583		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:68910518G>A	uc001dei.1	-	3	348	c.294C>T	c.(292-294)atC>atT	p.I98I		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	98					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CTGTTATGACGATCCTTTTCT	0.423000														53			23		0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	994600	994600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:994600C>T	uc021qss.1	+	18	6053	c.5410C>T	c.(5410-5412)Ctc>Ttc	p.L1804F	WNK1_uc001qio.4_Missense_Mutation_p.L1544F|WNK1_uc021qst.1_Missense_Mutation_p.L1796F|WNK1_uc001qip.4_Missense_Mutation_p.L1297F|WNK1_uc001qir.4_Missense_Mutation_p.L717F	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1544					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.L1544I(1)|p.L1804I(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGCTTTCTCCCTCTCTGCACC	0.478000														395			101		0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29595317	29595317	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29595317G>A	uc003nmt.4	-	5	939	c.603C>T	c.(601-603)agC>agT	p.S201S	GABBR1_uc003nmp.4_Silent_p.S84S|GABBR1_uc003nms.4_Silent_p.S84S|GABBR1_uc003nmu.4_Silent_p.S139S|GABBR1_uc011dlr.2_Silent_p.S24S|GABBR1_uc011dls.1_Silent_p.S201S	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	201					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TGTCCCTGCGGCTATTCACGT	0.677000														11			8		0	0	1	0	0
C1orf114	57821	broad.mit.edu	37	1	169390881	169390881	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169390881G>A	uc001gga.1	-	2	956	c.788C>T	c.(787-789)tCt>tTt	p.S263F	C1orf114_uc001gfz.1_Missense_Mutation_p.S263F|C1orf114_uc009wvq.1_Missense_Mutation_p.S263F|C1orf114_uc001ggb.3_Missense_Mutation_p.S263F|C1orf114_uc001ggc.1_Missense_Mutation_p.S263F	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	263										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					GCCACTGACAGAGGAGTTGGA	0.458000														198			27		0	0	1	0	0
C1orf187	374946	broad.mit.edu	37	1	11766499	11766499	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11766499C>T	uc001asr.1	+	1	324	c.184C>T	c.(184-186)Ccg>Tcg	p.P62S		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	Homo sapiens chromosome 1 open reading frame 187 (C1orf187), mRNA.	62					Wnt receptor signaling pathway|axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway	extracellular region				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(2)	15	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		CCGGCGGGGCCCGGGCAAGAA	0.721000														15			9		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105168911	105168911	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:105168911G>A	uc004emd.3	+	18	3503	c.3200G>A	c.(3199-3201)cGa>cAa	p.R1067Q	NRK_uc010npc.1_Missense_Mutation_p.R735Q	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1067							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAGTCGTTCGAACCAGTGAA	0.493000										HNSCC(51;0.14)				18			36		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938959	2938959	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:2938959G>A	uc001ajz.3	+	0	914	c.709G>A	c.(709-711)Gag>Aag	p.E237K		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	237						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GAGGCCGGAGGAGGTCCTGAG	0.652000														60			18		0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101865215	101865215	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:101865215C>T	uc002bxa.2	-	17	2528	c.2214G>A	c.(2212-2214)ggG>ggA	p.G738G	PCSK6_uc010bpd.3_Silent_p.G535G|PCSK6_uc002bwy.3_Silent_p.G738G|PCSK6_uc010bpe.3_Silent_p.G722G|PCSK6_uc002bxb.2_Silent_p.G725G	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	739	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGCTGTGTCCCCAAAGTAGC	0.657000														23			26		0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12832322	12832322	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:12832322G>A	uc002gnr.4	+	6	868	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	ARHGAP44_uc010vvk.2_Missense_Mutation_p.E181K|ARHGAP44_uc010vvl.2_Missense_Mutation_p.E181K|ARHGAP44_uc002gns.4_Intron|ARHGAP44_uc010vvm.2_Missense_Mutation_p.E181K|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	181	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TGCCCTCAGGGAAGAAATGGA	0.552000														14			10		0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182597411	182597411	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:182597411C>T	uc003flb.3	+	19	2637	c.2380C>T	c.(2380-2382)Cgt>Tgt	p.R794C	ATP11B_uc003flc.3_Missense_Mutation_p.R378C|ATP11B_uc011bqm.1_Missense_Mutation_p.R98C|ATP11B_uc010hxf.1_5'UTR	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	794					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATTATGCTGTCGTATGGCTCC	0.358000														104			17		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17051295	17051295	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:17051295C>T	uc011awc.2	+	2	529	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PLCL2_uc010het.1_Missense_Mutation_p.R27C|PLCL2_uc011awd.2_Missense_Mutation_p.R27C	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	153	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAAAAAGGTTCGCTCCAACTC	0.418000														66			21		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41582036	41582036	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:41582036C>T	uc003xok.3	-	6	733	c.649G>A	c.(649-651)Gag>Aag	p.E217K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.E217K|ANK1_uc003xoj.3_Missense_Mutation_p.E217K|ANK1_uc003xol.3_Missense_Mutation_p.E217K|ANK1_uc003xom.3_Missense_Mutation_p.E250K	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	217	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTGAGGTTCTCGTAGTGAGCC	0.567000														5			3		0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226923820	226923820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:226923820G>A	uc010pvo.2	-	1	1680	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F	ITPKB_uc001hqh.3_Missense_Mutation_p.S447F	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	447							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.R447P(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CAGCGTTGGGGACCCTCCCTC	0.706000														70			27		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535791	69535791	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69535791C>T	uc021xow.1	-	0	704	c.546G>A	c.(544-546)gaG>gaA	p.E182E		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	182					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CACCATTCTTCTCAAATGTGT	0.398000														214			86		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46299162	46299162	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46299162C>T	uc002pdm.3	-	5	2290	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K	RSPH6A_uc002pdl.3_Missense_Mutation_p.E443K	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	707	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcctcgccctcctcc	0.577000														86			55		0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935259	151935259	+	Missense_Mutation	SNP	G	A	A	rs35981027		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151935259G>A	uc022chl.1	-	0	908	c.908C>T	c.(907-909)cCc>cTc	p.P303L	MAGEA3_uc004fgp.3_Missense_Mutation_p.P303L	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	303	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTCATGCAGGGGTGGGTAGGA	0.577000														128			21		0	0	1	0	0
BIRC2	329	broad.mit.edu	37	11	102220766	102220766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102220766C>T	uc001pgy.3	+	1	1580	c.181C>T	c.(181-183)Cct>Tct	p.P61S	BIRC2_uc010ruq.2_Missense_Mutation_p.P12S|BIRC2_uc010rur.2_Missense_Mutation_p.P61S	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	Homo sapiens baculoviral IAP repeat containing 2 (BIRC2), mRNA.	61					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		CGCCGGGGTGCCTGTCTCAGA	0.428000														124			26		0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85446507	85446507	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:85446507C>T	uc003pkl.1	-	7	1720	c.1720G>A	c.(1720-1722)Gga>Aga	p.G574R	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	574					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G574G(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGGTGCACTCCTTCCACAGGG	0.517000														26			22		0	0	1	0	0
ZNF788	388507	broad.mit.edu	37	19	12223856	12223856	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12223856G>A	uc002mtd.3	+	2	2131	c.1494G>A	c.(1492-1494)ggG>ggA	p.G498G						Homo sapiens zinc finger family member 788 (ZNF788), non-coding RNA.											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						CTCACATTGGGGAGAAACCCT	0.418000														34			5		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121957514	121957514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:121957514C>T	uc003idq.1	-	3	2139	c.1612G>A	c.(1612-1614)Ggc>Agc	p.G538S		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	538	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TAAGATTTGCCAGGCTGAAGA	0.403000														116			49		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974126	35974126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:35974126C>T	uc004ddj.3	+	7	1289	c.1223C>T	c.(1222-1224)cCt>cTt	p.P408L	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	408										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ACAGGACTTCCTGTTTTACTA	0.373000														61			35		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13764672	13764672	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:13764672G>A	uc001rbt.2	-	7	1946	c.1767C>T	c.(1765-1767)ctC>ctT	p.L589L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	589					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGCCATCAGCGAGGCACCTGT	0.483000														92			19		0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184075040	184075040	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:184075040G>A	uc003foi.3	-	8	1037	c.913C>T	c.(913-915)Ctc>Ttc	p.L305F	CLCN2_uc003foh.3_5'Flank|CLCN2_uc010hya.2_Missense_Mutation_p.L305F|CLCN2_uc011brl.2_Missense_Mutation_p.L305F|CLCN2_uc011brm.2_Missense_Mutation_p.L261F|CLCN2_uc011brn.1_Missense_Mutation_p.L305F	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	305						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTTTTGAAGAGGGCTGTAATA	0.612000														59			27		0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99060038	99060038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:99060038C>T	uc001tfz.3	+	8	1842	c.1265C>T	c.(1264-1266)tCt>tTt	p.S422F	APAF1_uc001tfy.3_Missense_Mutation_p.S411F|APAF1_uc001tga.3_Missense_Mutation_p.S411F|APAF1_uc001tgb.3_Missense_Mutation_p.S422F|APAF1_uc001tgc.3_Intron	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	422					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GTAAATAAGTCTCTTTTATTC	0.353000														96			40		0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45050878	45050878	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45050878C>T	uc001zuf.2	+	4	1534	c.639C>T	c.(637-639)ttC>ttT	p.F213F	TRIM69_uc001zug.1_Silent_p.F213F|TRIM69_uc001zuh.1_Silent_p.F54F|TRIM69_uc001zui.1_Silent_p.F9F|TRIM69_uc010bdy.1_Silent_p.F9F	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	213					apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TGCATCAGTTCCTGCACAGCA	0.458000														51			20		0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079453	31079453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31079453C>T	uc003nsk.1	-	1	683	c.683G>A	c.(682-684)gGa>gAa	p.G228E		NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	228	Gly-rich.									endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GGGCCTCGTTCCCCAACCAGT	0.592000														65			8		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57423014	57423014	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57423014G>A	uc001smw.4	-	26	3147	c.2907C>T	c.(2905-2907)ttC>ttT	p.F969F	MYO1A_uc010sqz.2_Silent_p.F807F|MYO1A_uc009zpd.3_Silent_p.F969F	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	969					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGACCAGCAGGAAGTCCCCCT	0.512000														68			33		0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25365205	25365205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:25365205C>T	uc003xep.1	+	14	3500	c.3023C>T	c.(3022-3024)tCt>tTt	p.S1008F	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.S993F|CDCA2_uc003xer.1_Missense_Mutation_p.S671F	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	1008					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GGAGAGAGCTCTCTGACTGCC	0.433000														90			33		0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29194912	29194912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:29194912G>A	uc003xhm.3	-	3	1288	c.816C>T	c.(814-816)tgC>tgT	p.C272C	DUSP4_uc003xhl.3_Silent_p.C181C	NM_001394	NP_001385	Q13115	DUS4_HUMAN	Homo sapiens dual specificity phosphatase 4 (DUSP4), transcript variant 1, mRNA.	272	Tyrosine-protein phosphatase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|endoderm formation|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CGCGCCCACGGCAGTCCTTCA	0.667000														74			21		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131849943	131849943	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:131849943C>T	uc003vra.4	-	22	4532	c.4303G>A	c.(4303-4305)Gag>Aag	p.E1435K		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1435						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGCATCTTCTCAGCCACTGAC	0.527000														56			30		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91795728	91795728	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:91795728C>T	uc002bqv.3	+	4	1653	c.762C>T	c.(760-762)gcC>gcT	p.A254A	SV2B_uc002bqt.3_Silent_p.A254A|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.A103A	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	254					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CTGCCATGGCCTGGAGCATCA	0.542000														59			13		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69758135	69758135	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:69758135G>A	uc010kak.3	+	12	2442	c.2166G>A	c.(2164-2166)atG>atA	p.M722I	BAI3_uc003pev.4_Missense_Mutation_p.M722I	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	722					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P721A(2)|p.M722I(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACTTTCCAATGAAAGGACGGA	0.368000														62			36		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21215530	21215530	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21215530G>A	uc010bwn.1	-	8	992	c.910C>T	c.(910-912)Cct>Tct	p.P304S	ZP2_uc002dii.2_Missense_Mutation_p.P265S|ZP2_uc010bwo.3_Missense_Mutation_p.P304S	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	265					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)		CAGGTCACAGGATCTAGAAGG	0.468000														75			21		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98528268	98528268	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:98528268C>T	uc003upp.3	+	24	3615	c.3406C>T	c.(3406-3408)Ccc>Tcc	p.P1136S	TRRAP_uc011kis.2_Missense_Mutation_p.P1136S|TRRAP_uc003upr.3_Missense_Mutation_p.P828S	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1136					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGCCAGCTGCCCCTGTTTTC	0.483000														210			97		0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117884974	117884974	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:117884974G>A	uc001lcj.3	-	5	1226	c.528C>T	c.(526-528)acC>acT	p.T176T	GFRA1_uc001lci.3_Silent_p.T171T|GFRA1_uc009xyr.3_Silent_p.T171T	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	176					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	p.S176fs*64(1)		endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGGTGCACGGGGTGATGTACG	0.587000														40			4		0	0	1	0	0
TAS2R20	259295	broad.mit.edu	37	12	11150314	11150314	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:11150314G>A	uc001qzm.2	-	0	161	c.161C>T	c.(160-162)tCc>tTc	p.S54F	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176889	NP_795370	P59543	T2R20_HUMAN	Homo sapiens taste receptor, type 2, member 20 (TAS2R20), mRNA.	54					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						ACCAACTCTGGAGACTGCCAG	0.348000														68			34		0	0	1	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20470032	20470032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:20470032G>A	uc009vpp.1	+	2	361	c.263G>A	c.(262-264)gGt>gAt	p.G88D		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA.	45					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	p.G88S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GTGGGCTACGGTTGCTACTGT	0.637000														73			16		0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201257	71201257	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71201257G>A	uc003hff.3	+	0	587	c.501G>A	c.(499-501)aaG>aaA	p.K167K	CABS1_uc021xoz.1_Silent_p.K167K	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	167						flagellum	calcium ion binding	p.K167K(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCACACTAAAGGACAGCAGTG	0.433000														49			16		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156875149	156875149	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156875149G>A	uc001fqj.1	+	3	356	c.240G>A	c.(238-240)gtG>gtA	p.V80V	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.	80	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)					GTCAGGTGGTGAAGACGGACC	0.657000														38			8		0	0	1	0	0
FBLIM1	54751	broad.mit.edu	37	1	16091602	16091602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16091602C>T	uc001axd.1	+	3	567	c.124C>T	c.(124-126)Ccc>Tcc	p.P42S	FBLIM1_uc001axe.1_Missense_Mutation_p.P42S|FBLIM1_uc001axg.1_Missense_Mutation_p.P42S|FBLIM1_uc001axh.1_Missense_Mutation_p.P42S|FBLIM1_uc001axi.1_Missense_Mutation_p.P42S	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	42	Filamin-binding.|Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	p.P42H(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)		GCGTGGCCGCCCCTGGGAGGC	0.706000														51			25		0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123215752	123215752	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:123215752G>A	uc004bkf.3	-	20	2956	c.2775C>T	c.(2773-2775)ctC>ctT	p.L925L	CDK5RAP2_uc004bke.3_Silent_p.L210L|CDK5RAP2_uc004bkg.3_Silent_p.L925L|CDK5RAP2_uc011lxw.2_Silent_p.L190L|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Silent_p.L190L|CDK5RAP2_uc011lya.2_Silent_p.L190L|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.3_Silent_p.L692L	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	925					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TAATACCAGGGAGGGAAAGGA	0.453000														90			36		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952916	54952916	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:54952916C>T	uc003dhl.3	-	2	742	c.608G>A	c.(607-609)gGa>gAa	p.G203E	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	203	LRRCT.					integral to membrane		p.G202W(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GTCTGTTAGTCCCCCTTTAAA	0.453000														38			5		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234072440	234072440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234072440C>T	uc010zmo.2	+	10	1394	c.1241C>T	c.(1240-1242)cCc>cTc	p.P414L	INPP5D_uc010zmp.2_Missense_Mutation_p.P413L	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	443					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)		GACTACATCCCCCATGACATT	0.557000														138			31		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35857148	35857148	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35857148C>T	uc003jjs.3	+	0	158	c.69C>T	c.(67-69)ggC>ggT	p.G23G	IL7R_uc011coo.2_Silent_p.G23G|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	23					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GAGAAAGTGGCTATGCTCAAA	0.383000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							166			80		0	0	1	0	0
TMC6	11322	broad.mit.edu	37	17	76118722	76118722	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76118722G>A	uc002juj.1	-	8	1317	c.1191C>T	c.(1189-1191)tcC>tcT	p.S397S	TMC6_uc002jui.1_Silent_p.S36S|TMC6_uc010dhf.1_Silent_p.S230S|TMC6_uc002juk.2_Silent_p.S397S|TMC6_uc010dhg.1_Silent_p.S397S|TMC6_uc002jul.1_Silent_p.S397S|TMC6_uc002jum.4_Silent_p.S188S|TMC6_uc002jun.4_Silent_p.S397S|TMC6_uc002juo.2_Silent_p.S170S	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 2, mRNA.	397						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCTGGAGGCGGGAGGCCCGCT	0.662000														18			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069180	9069180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9069180G>A	uc002mkp.3	-	2	18470	c.18266C>T	c.(18265-18267)tCa>tTa	p.S6089L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6091	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						CTCTGTAGTTGAGTTCATCAC	0.488000														30			15		0	0	1	0	0
HOXC4	3221	broad.mit.edu	37	12	54448806	54448806	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54448806C>T	uc001seu.3	+	3	1292	c.612C>T	c.(610-612)ttC>ttT	p.F204F	HOXC4_uc001sex.3_Silent_p.F204F	NM_014620	NP_705897	P09017	HXC4_HUMAN	Homo sapiens homeobox C4 (HOXC4), transcript variant 1, mRNA.	204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						AAATCTGGTTCCAAAACCGTC	0.567000														25			15		0	0	1	0	0
SGPP2	130367	broad.mit.edu	37	2	223423135	223423135	+	Missense_Mutation	SNP	G	A	A	rs141548793	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:223423135G>A	uc010zlo.2	+	4	718	c.718G>A	c.(718-720)Gac>Aac	p.D240N	SGPP2_uc010zlp.2_Missense_Mutation_p.D112N	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.	240					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		GACCTTCATCGACTGCCTGGA	0.537000														131			48		0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	708645	708645	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:708645G>A	uc002cii.1	+	22	2941	c.2887G>A	c.(2887-2889)Ggc>Agc	p.G963S	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.G490S|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Missense_Mutation_p.G137S|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	963										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCCAGCCCAGGCCCCCAGGT	0.697000														24			9		0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59224523	59224523	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59224523C>T	uc010rku.2	+	0	90	c.90C>T	c.(88-90)gtC>gtT	p.V30V		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGTTTGTGGTCTTCTTTGCTG	0.463000														120			41		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72344498	72344498	+	Missense_Mutation	SNP	C	T	T	rs77006793	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:72344498C>T	uc002llw.2	+	0	1576	c.1523C>T	c.(1522-1524)cCt>cTt	p.P508L	ZNF407_uc010xfc.2_Missense_Mutation_p.P508L|ZNF407_uc010dqu.2_Missense_Mutation_p.P508L|ZNF407_uc002llu.2_Missense_Mutation_p.P507L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGTGCCCGTCCTCCGGACTCC	0.572000														95			37		0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289598	98289599	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:98289598_98289599CC>TT	uc003yhy.3	-	0	578_579	c.474_475GG>AA	c.(472-477)aggggg>agAAgg	p.G159R		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	159					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					ACCTGAGGCCCCCTCCCCGCGG	0.644000														112			48		0	0	1	0	0
CD3D	915	broad.mit.edu	37	11	118211092	118211092	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118211092C>T	uc001pss.1	-	1	409	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	CD3D_uc001pst.1_Missense_Mutation_p.R91Q|CD3D_uc021qrf.1_Intron	NM_000732	NP_000723	P04234	CD3D_HUMAN	Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA.	91					T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GCACGTACTTCGATAATGAAC	0.463000														55			14		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77762534	77762534	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:77762534C>T	uc003yau.2	+	8	4287	c.3900C>T	c.(3898-3900)gcC>gcT	p.A1300A	ZFHX4_uc003yaw.1_Silent_p.A1255A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1255						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)			CAGCAGCTGCCTCTGAGAAAT	0.478000										HNSCC(33;0.089)				14			10		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129185811	129185811	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:129185811C>T	uc003eml.3	+	8	1001	c.795C>T	c.(793-795)atC>atT	p.I265I	IFT122_uc003emm.3_Silent_p.I214I|IFT122_uc003emn.3_Intron|IFT122_uc003emo.3_Intron|IFT122_uc003emp.3_Silent_p.I64I|IFT122_uc010htc.3_Intron|IFT122_uc011bky.2_Intron|IFT122_uc011bla.2_Intron|IFT122_uc003emr.3_Intron|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Intron	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	214					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						TTCAGGAAATCCCTTCCACTC	0.483000														103			28		0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188956533	188956533	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:188956533G>A	uc003frv.2	+	8	1541	c.314G>A	c.(313-315)tGg>tAg	p.W105*	TPRG1_uc003frw.2_Nonsense_Mutation_p.W105*	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	105										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		ATAGACCACTGGAACAATGAG	0.413000														91			45		0	0	1	0	0
TAF1A	9015	broad.mit.edu	37	1	222737456	222737456	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:222737456C>T	uc009xdz.2	-	7	1115	c.906G>A	c.(904-906)caG>caA	p.Q302Q	TAF1A_uc009xdy.1_5'UTR|TAF1A_uc001hni.2_Silent_p.Q188Q|TAF1A_uc001hnj.3_Silent_p.Q302Q	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	302					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		ATGGTACAATCTGATACAAAA	0.279000														79			29		0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114053792	114053792	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:114053792C>T	uc001kzr.1	+	5	644	c.644C>T	c.(643-645)cCc>cTc	p.P215L		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	Homo sapiens tectorin beta (TECTB), mRNA.	215	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TTCATGTATCCCTTGCAGTGG	0.478000														40			11		0	0	1	0	0
FUT4	2526	broad.mit.edu	37	11	94277910	94277911	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:94277910_94277911CC>TT	uc001pez.3	+	0	894_895	c.611_612CC>TT	c.(610-612)gcc>gTT	p.A204V	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.2_5'Flank	NM_002033	NP_002024	P22083	FUT4_HUMAN	Homo sapiens fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) (FUT4), mRNA.	204					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGCGATAGCGCCCCGAGGCCGC	0.743000														8			3		0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46062951	46062951	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46062951G>A	uc003cpe.3	-	2	713	c.489C>T	c.(487-489)ctC>ctT	p.L163L	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Silent_p.L163L|XCR1_uc021wwx.1_Silent_p.L163L	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	163					G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response	integral to plasma membrane	chemokine receptor activity	p.I162T(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGATGGTGTCGAGGATGGAGG	0.602000														19			10		0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42168793	42168793	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42168793C>T	uc002xkn.1	+	12	1314	c.1183C>T	c.(1183-1185)Ctc>Ttc	p.L395F	L3MBTL1_uc010zwh.2_Missense_Mutation_p.L704F|L3MBTL1_uc002xkm.3_Missense_Mutation_p.L636F|L3MBTL1_uc010ggl.3_Missense_Mutation_p.L641F|L3MBTL1_uc002xkl.3_Missense_Mutation_p.L636F|L3MBTL1_uc002xko.3_Missense_Mutation_p.L288F|L3MBTL1_uc002xkp.3_Missense_Mutation_p.L24F|SGK2_uc002xkq.1_5'UTR	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	636					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			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CTTTCCAGCCCTCACGCCCGA	0.612000														49			12		0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96104083	96104083	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:96104083C>T	uc003hto.3	-	13	2769	c.2416G>A	c.(2416-2418)Ggg>Agg	p.G806R		NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	806					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAGATCTGCCCTTCTCCTTCC	0.522000														79			31		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158609717	158609717	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158609717G>A	uc001fst.1	-	33	5017	c.4818C>T	c.(4816-4818)gcC>gcT	p.A1606A		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1606					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTGACGACTGGCCTCATTGA	0.473000														116			42		0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230841825	230841825	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:230841825C>T	uc001hty.4	-	2	1486	c.978G>A	c.(976-978)caG>caA	p.Q326Q	AGT_uc009xff.3_Silent_p.Q298Q	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	326					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	AGAAGTTGTCCTGGATGTCAC	0.592000														101			26		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7619939	7619939	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7619939C>T	uc010xjq.2	+	23	3065	c.2825C>T	c.(2824-2826)tCg>tTg	p.S942L	PNPLA6_uc002mgq.2_Missense_Mutation_p.S894L|PNPLA6_uc010xjp.2_Missense_Mutation_p.S867L|PNPLA6_uc002mgr.2_Missense_Mutation_p.S894L|PNPLA6_uc002mgs.3_Missense_Mutation_p.S932L	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	933					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CGCCTCTTTTCGCGCCGCAGC	0.731000														8			6		0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099443	133099443	+	Silent	SNP	G	A	A	rs138205990	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:133099443G>A	uc003epi.3	+	3	1158	c.888G>A	c.(886-888)ggG>ggA	p.G296G	TMEM108_uc003eph.3_Silent_p.G296G|TMEM108_uc003epj.1_Silent_p.G296G|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	296						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCCAAGGAGGGACACCAGATG	0.662000														42			17		0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50679123	50679123	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50679123G>A	uc001jhs.4	-	16	3122	c.2968C>T	c.(2968-2970)Cca>Tca	p.P990S	ERCC6_uc009xod.3_Missense_Mutation_p.P150S|ERCC6_uc010qgr.2_Missense_Mutation_p.P360S|ERCC6_uc001jhr.4_Missense_Mutation_p.P358S	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	990	Helicase C-terminal.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding	p.D989Y(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTTTGTTTTGGGTCTTTTAGC	0.348000								Direct reversal of damage;Nucleotide excision repair (NER)						119			24		0	0	1	0	0
P2RY12	64805	broad.mit.edu	37	3	151056190	151056190	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151056190G>A	uc003eyw.1	-	1	660	c.444C>T	c.(442-444)atC>atT	p.I148I	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Silent_p.I148I|P2RY12_uc021xga.1_Silent_p.I148I	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 12 (P2RY12), transcript variant 2, mRNA.	148					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TGAATGCCCAGATGACAACAG	0.438000														84			31		0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032327	30032327	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:30032327C>T	uc021qfi.1	-	0	1899	c.1899G>A	c.(1897-1899)ggG>ggA	p.G633G	KCNA4_uc001msk.3_Silent_p.G633G	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	633						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.K632N(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CACTGTCATCCCCCTTTCCCT	0.478000														135			31		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76744460	76744460	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:76744460G>A	uc003pik.1	-	2	476	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	116					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCAGGGATGCGATCCAGAAAG	0.502000														59			12		0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120889255	120889255	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:120889255C>T	uc002tmg.3	+	17	1754	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	EPB41L5_uc010fll.3_Silent_p.S521S|EPB41L5_uc010flm.3_Silent_p.S325S	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	521						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CTTTGCTGTCCCCTCGATCCA	0.413000														71			20		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169412861	169412861	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:169412861C>T	uc003maf.3	+	28	3008	c.2928C>T	c.(2926-2928)ttC>ttT	p.F976F	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.F468F	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	976	Interaction with CRKL.				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			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)			TCATCATGTTCAAGGACCTCA	0.468000														140			50		0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59962312	59962312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:59962312G>A	uc002izn.3	-	15	2139	c.2063C>T	c.(2062-2064)cCt>cTt	p.P688L	INTS2_uc002izm.3_Missense_Mutation_p.P680L	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	688					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GAATTTGATAGGAATCTGATC	0.333000														24			3		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56196429	56196429	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:56196429C>T	uc002lhj.4	-	5	5609	c.5395G>A	c.(5395-5397)Gaa>Aaa	p.E1799K	ALPK2_uc002lhk.1_Missense_Mutation_p.E1130K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1799	Ig-like 2.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCAGAGTGTTCAGGGAACATC	0.368000														108			16		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64595811	64595811	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:64595811C>T	uc003jtp.3	-	10	2184	c.1370_splice	c.e10+1	p.D457_splice	ADAMTS6_uc003jto.3_Splice_Site|ADAMTS6_uc003jtq.3_Splice_Site|ADAMTS6_uc003jtr.1_Splice_Site_p.D78_splice	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	457	Peptidase M12B.				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)		AGATTACTTACTCTAGAAAGC	0.413000														57			23		0	0	1	0	0
H2BFM	286436	broad.mit.edu	37	X	103294923	103294923	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:103294923G>A	uc004els.2	+	0	408	c.380G>A	c.(379-381)gGg>gAg	p.G127E		NM_001164416	NP_001157888			Homo sapiens H2B histone family, member M (H2BFM), mRNA.											endometrium(1)|lung(1)|ovary(1)	3						CTGCTGCCGGGGAAGATGGGC	0.647000														3			3		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566491	45566491	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:45566491C>T	uc010dnv.3	-	2	1490	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	ZBTB7C_uc002ldb.3_Missense_Mutation_p.D330N|ZBTB7C_uc010dnu.3_Missense_Mutation_p.D339N|ZBTB7C_uc010dnw.3_Missense_Mutation_p.D330N|ZBTB7C_uc010dnx.1_Missense_Mutation_p.D330N|ZBTB7C_uc010dny.1_Missense_Mutation_p.D330N|ZBTB7C_uc010dnz.1_Missense_Mutation_p.D352N|ZBTB7C_uc010doi.1_Missense_Mutation_p.D330N|ZBTB7C_uc010doj.1_Missense_Mutation_p.D339N|ZBTB7C_uc010dok.1_Missense_Mutation_p.D379N|ZBTB7C_uc010dol.1_Missense_Mutation_p.D339N|ZBTB7C_uc010doa.1_Missense_Mutation_p.D352N|ZBTB7C_uc010dob.1_Missense_Mutation_p.D330N|ZBTB7C_uc010doc.1_Missense_Mutation_p.D339N|ZBTB7C_uc010dod.1_Missense_Mutation_p.D352N|ZBTB7C_uc010doe.1_Missense_Mutation_p.D330N|ZBTB7C_uc010dof.1_Missense_Mutation_p.D330N|ZBTB7C_uc010dog.1_Missense_Mutation_p.D330N|ZBTB7C_uc010doh.1_Missense_Mutation_p.D339N|ZBTB7C_uc010dom.1_Missense_Mutation_p.D339N|ZBTB7C_uc010don.1_Missense_Mutation_p.D338N|ZBTB7C_uc010dop.1_Missense_Mutation_p.D330N|ZBTB7C_uc010doq.1_Missense_Mutation_p.D339N|ZBTB7C_uc010dor.1_Missense_Mutation_p.D352N|ZBTB7C_uc010dos.1_Missense_Mutation_p.D330N|ZBTB7C_uc010dot.1_Missense_Mutation_p.D330N|ZBTB7C_uc010doo.1_Missense_Mutation_p.D330N|ZBTB7C_uc010dou.1_Missense_Mutation_p.D339N	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	330						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCACCGTAGTCGTTCTCCGCC	0.637000														66			33		0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50048801	50048801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:50048801G>A	uc002xwd.3	-	8	2745	c.2525C>T	c.(2524-2526)aCc>aTc	p.T842I	NFATC2_uc002xwc.3_Missense_Mutation_p.T842I|NFATC2_uc010zyv.2_Missense_Mutation_p.T623I|NFATC2_uc010zyw.2_Missense_Mutation_p.T623I|NFATC2_uc002xwe.3_Missense_Mutation_p.T822I|NFATC2_uc010zyx.2_Missense_Mutation_p.T822I|NFATC2_uc010zyy.2_Missense_Mutation_p.T623I|NFATC2_uc010zyz.2_Missense_Mutation_p.T623I	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	842					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCCAGGTCTGGTGGTGCCTGG	0.617000														74			10		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94700010	94700010	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94700010C>T	uc001ycs.1	+	5	691	c.537C>T	c.(535-537)tcC>tcT	p.S179S		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	179						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CACTTGTTTCCAAGGCACAAC	0.328000														108			33		0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130479928	130479928	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130479928G>A	uc004brq.1	+	3	370	c.303G>A	c.(301-303)cgG>cgA	p.R101R	PTRH1_uc004brm.3_5'Flank|PTRH1_uc004bro.3_5'Flank|PTRH1_uc010mxm.3_5'Flank|PTRH1_uc011mah.2_Intron|TTC16_uc011mai.1_Intron|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_5'Flank	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	101							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						ATGCCTTACGGGCTGAGGCCT	0.627000														41			24		0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20434538	20434538	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:20434538C>T	uc003suu.3	+	7	1781	c.1076C>T	c.(1075-1077)cCa>cTa	p.P359L	ITGB8_uc011jyh.2_Missense_Mutation_p.P224L|ITGB8_uc003sut.3_Missense_Mutation_p.P359L	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	359	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CCCCTCTTGCCAGGCACCATT	0.328000														63			8		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529546	57529546	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:57529546G>A	uc011kdi.1	+	3	1491	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATTCATACTGGAGAGAAACCC	0.358000														10			8		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932427	83932427	+	Missense_Mutation	SNP	C	T	T	rs149687703		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83932427C>T	uc002bjt.1	-	3	1664	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	BNC1_uc010uos.1_Missense_Mutation_p.E514K	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	526					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AATGGCATTTCGTTTGAAATG	0.488000														124			35		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232581315	232581315	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:232581315G>A	uc001hvg.3	-	8	3471	c.3313C>T	c.(3313-3315)Cga>Tga	p.R1105*	SIPA1L2_uc001hvf.3_Nonsense_Mutation_p.R179*	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1105					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAGGTGCTTCGAGGAATGGCA	0.637000														54			16		0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36271373	36271373	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:36271373C>T	uc011cow.2	-	1	625	c.132G>A	c.(130-132)aaG>aaA	p.K44K	RANBP3L_uc003jkh.3_Silent_p.K44K	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	44					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TTTGTTCTCCCTTTTCAAAAA	0.303000														69			10		0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49866927	49866927	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49866927G>A	uc003cxs.1	-	13	1357	c.1251C>T	c.(1249-1251)ttC>ttT	p.F417F	TRAIP_uc010hla.1_Silent_p.F318F	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	417	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAGCCCATCGAAGCCTGTCC	0.562000														50			20		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1255475	1255475	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1255475G>T	uc003jcb.1	-	13	3142	c.3084C>A	c.(3082-3084)aaC>aaA	p.N1028K	TERT_uc003jbz.1_Missense_Mutation_p.N224K|TERT_uc003jcc.1_Missense_Mutation_p.N965K|TERT_uc003jca.1_Missense_Mutation_p.N1016K|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Non-coding_Transcript|TERT_uc021xwa.1_Missense_Mutation_p.P91T|TERT_uc021xwb.1_Missense_Mutation_p.N180K	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	1028	CTE.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AAAATGTGGGGTTCTTCCAAA	0.557000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					48			8		1.06961e-07	1.07237e-07	1	1	0
ROCK1P1	727758	broad.mit.edu	37	18	118427	118427	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:118427C>T	uc002kke.3	+	3		c.861C>T								Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 (ROCK1P1), non-coding RNA.																		TTCGTGCTTCCCCTTGAACGC	0.388000														241			23		0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17507464	17507464	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:17507464G>A	uc003wxv.3	-	12	3866	c.3392C>T	c.(3391-3393)cCt>cTt	p.P1131L	MTUS1_uc003wxt.3_Missense_Mutation_p.P378L|MTUS1_uc011kyg.2_Missense_Mutation_p.P276L|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.P1077L|MTUS1_uc003wxs.3_Missense_Mutation_p.P297L	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	1131						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CATGATCTGAGGATTTTTCTG	0.353000														84			34		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1162237	1162237	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1162237C>T	uc021qbr.1	+	14	1793	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	573	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGATGACTTCCGGACCCTCA	0.637000														17			8		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101488063	101488063	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:101488063G>A	uc010svm.1	+	17	2303	c.1731G>A	c.(1729-1731)acG>acA	p.T577T	ANO4_uc001thw.2_Silent_p.T542T|ANO4_uc001thx.2_Silent_p.T577T|ANO4_uc001thy.2_Silent_p.T97T	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	577						chloride channel complex	chloride channel activity	p.I576I(1)		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						TGCTTCTGACGAATTTAGGTG	0.328000										HNSCC(74;0.22)				56			26		0	0	1	0	0
SFPQ	6421	broad.mit.edu	37	1	35652632	35652632	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:35652632G>A	uc001bys.3	-	8	2049	c.1956C>T	c.(1954-1956)acC>acT	p.T652T		NM_005066	NP_005057	P23246	SFPQ_HUMAN	Homo sapiens splicing factor proline/glutamine-rich (SFPQ), mRNA.	652					DNA recombination|DNA repair|alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|nucleotide binding|protein binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				AACCACTCATGGTTGCTGGTG	0.453000			T	TFE3	papillary renal cell									67			39		0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168725844	168725844	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:168725844G>A	uc021vsc.1	+	0	295	c.295G>A	c.(295-297)Gag>Aag	p.E99K	B3GALT1_uc002udz.1_Missense_Mutation_p.E99K	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	99					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						GGCAATCAGAGAGACGTGGGG	0.463000														79			24		0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159092037	159092037	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:159092037G>C	uc003ipq.4	-	1	898	c.491C>G	c.(490-492)cCt>cGt	p.P164R	AK096792_uc003ipu.1_5'Flank|FAM198B_uc003ipp.4_Missense_Mutation_p.P164R|FAM198B_uc003ipr.4_Missense_Mutation_p.P164R|FAM198B_uc003ips.3_Missense_Mutation_p.P164R|AK126266_uc003ipt.1_Non-coding_Transcript	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	164						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						AGCGTACCCAGGTGCTACAGC	0.632000											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			21		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61498026	61498026	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61498026C>T	uc002jal.4	+	24	4706	c.4683C>T	c.(4681-4683)ccC>ccT	p.P1561P	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Silent_p.P672P	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1561							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTGGTTCACCCGTGCGCTATC	0.582000														29			10		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180891	65180891	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:65180891G>A	uc002lke.1	-	1	2209	c.985C>T	c.(985-987)Ctt>Ttt	p.L329F	LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Missense_Mutation_p.L329F	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	319						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CCAGGTAAAAGGGTGGCATAA	0.383000														123			15		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25664416	25664416	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:25664416G>A	uc003grr.3	+	2	283	c.202G>A	c.(202-204)Gac>Aac	p.D68N	SLC34A2_uc003grs.3_Missense_Mutation_p.D67N|SLC34A2_uc010iev.3_Missense_Mutation_p.D67N	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	68					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.D68G(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGAGGTGGATGACCCCTGGAA	0.522000			T	ROS1	NSCLC									79			31		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94048819	94048819	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94048819G>A	uc003ung.1	+	33	2506	c.2035G>A	c.(2035-2037)Ggt>Agt	p.G679S	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	679			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)	GGGTGCTCCTGGTGCTGTAGG	0.453000										HNSCC(75;0.22)				56			23		0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67694215	67694215	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67694215G>A	uc002etq.4	-	0	504	c.167C>T	c.(166-168)cCa>cTa	p.P56L	ACD_uc002etp.4_Missense_Mutation_p.P56L|ACD_uc002etr.4_Missense_Mutation_p.P56L|ACD_uc010vjt.1_Missense_Mutation_p.P46L|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	56					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTCCTTCGCTGGGCGGGGCCG	0.741000														32			5		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31593601	31593601	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31593601C>T	uc003nvb.4	+	7	1041	c.792C>T	c.(790-792)ccC>ccT	p.P264P	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Silent_p.P264P|PRRC2A_uc003nve.3_3'UTR	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	264	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCCCTCCGCCCTATGGACCCC	0.577000														74			16		0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258362	56258362	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56258362G>A	uc001nix.1	-	0	485	c.485C>T	c.(484-486)aCc>aTc	p.T162I	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TAGGTTGTAGGTCCACATGGT	0.507000														103			32		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75265490	75265490	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75265490C>T	uc001xqj.4	+	4	3614	c.3490C>T	c.(3490-3492)Cgt>Tgt	p.R1164C	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	969	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.R969C(1)|p.R1164C(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGATTTTGGTCGTGATAGAGG	0.542000														55			8		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240635690	240635690	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240635690G>A	uc010pye.2	+	17	5316	c.5091G>A	c.(5089-5091)gaG>gaA	p.E1697E	FMN2_uc010pyd.2_Silent_p.E1693E|FMN2_uc010pyg.2_Silent_p.E289E|FMN2_uc001hyr.3_Non-coding_Transcript	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1693	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGCCGAAGAGGTGTGTAGAC	0.333000														74			27		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557911	210557911	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:210557911C>T	uc002vde.1	+	6	1265	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	MAP2_uc002vdc.1_Silent_p.P339P|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.P335P	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	339					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAACATCGCCCTTTGCCCCTG	0.438000														81			30		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87040428	87040429	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:87040428_87040429GA>AT	uc009wcs.3	+	9	1717_1718	c.1673_1674GA>AT	c.(1672-1674)gga>gAT	p.G558D	CLCA4_uc009wct.3_Missense_Mutation_p.G321D|CLCA4_uc009wcu.3_Missense_Mutation_p.G378D	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	558						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			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)		AGTATTCCAGGAACTGCAAAGG	0.381000														63			12		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117791663	117791663	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117791663C>T	uc004bjj.4	-	24	6557	c.6145G>A	c.(6145-6147)Gac>Aac	p.D2049N	TNC_uc010mvf.3_Missense_Mutation_p.D1776N|TNC_uc022bmj.1_Missense_Mutation_p.D1686N	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	2049	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCTCTGCGGTCCCCAAATCCA	0.468000														88			25		0	0	1	0	0
CA13	377677	broad.mit.edu	37	8	86163062	86163062	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:86163062C>T	uc003ydg.2	+	1	473	c.131C>T	c.(130-132)tCc>tTc	p.S44F	CA13_uc003ydf.1_Non-coding_Transcript	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	Homo sapiens carbonic anhydrase XIII (CA13), mRNA.	44					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						TATGACTCTTCCCTCCGACCA	0.398000														140			66		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123593738	123593738	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:123593738C>T	uc003vle.3	+	2	553	c.114C>T	c.(112-114)ttC>ttT	p.F38F	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Silent_p.F38F|SPAM1_uc022aks.1_Silent_p.F38F|SPAM1_uc003vlf.4_Silent_p.F38F|SPAM1_uc010lku.3_Silent_p.F38F	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	38					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	p.N37T(1)		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)	CTCTGAATTTCAGAGCACCTC	0.413000														58			6		0	0	1	0	0
TNFRSF9	3604	broad.mit.edu	37	1	8000004	8000004	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:8000004G>A	uc001aot.3	-	2	312	c.51C>T	c.(49-51)aaC>aaT	p.N17N		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	17					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCTCAAAGTTGAGGACCA	0.443000														41			18		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43495431	43495431	+	Missense_Mutation	SNP	C	T	T	rs150037117	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43495431C>T	uc001zrb.4	-	10	2051	c.1751G>A	c.(1750-1752)cGa>cAa	p.R584Q	EPB42_uc001zqz.4_Missense_Mutation_p.R221Q|EPB42_uc001zra.4_Missense_Mutation_p.R554Q|EPB42_uc010udm.2_Missense_Mutation_p.R476Q	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	554					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GGGTGGGTTTCGCTCAAAATT	0.478000														79			24		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325627	79325627	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:79325627G>A	uc010mpk.3	-	7	1687	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	PRUNE2_uc022bih.1_Silent_p.F343F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	521					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.F521L(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGTTGGGGAAGAAGTCATCTG	0.512000														21			9		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48802271	48802271	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:48802271G>A	uc001zwx.2	-	13	2079	c.1684C>T	c.(1684-1686)Cat>Tat	p.H562Y		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	562	EGF-like 8; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGTGTAACATGAAAGCCCGCA	0.408000														66			25		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196964899	196964899	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:196964899G>A	uc001gts.4	+	4	788	c.660G>A	c.(658-660)aaG>aaA	p.K220K		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	220	Sushi 4.				complement activation, alternative pathway	extracellular region		p.K220N(2)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTGAAGTTAAGGAGATAAGAA	0.338000														63			24		0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150878191	150878191	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150878191G>A	uc003wjm.1	-	2	1200	c.939C>T	c.(937-939)ctC>ctT	p.L313L	ASB10_uc003wjl.1_Silent_p.L313L|ASB10_uc003wjn.1_Silent_p.L298L	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	313					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACAGGACAGGAGCAGCTCCA	0.672000														30			4		0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78398979	78398979	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:78398979G>A	uc001dic.4	+	9	1363	c.1066G>A	c.(1066-1068)Gac>Aac	p.D356N	NEXN_uc001dia.3_Missense_Mutation_p.D342N|NEXN_uc009wcb.1_Missense_Mutation_p.D278N|NEXN_uc001dib.4_Missense_Mutation_p.D292N|NEXN_uc001did.1_Missense_Mutation_p.D266N|NEXN_uc001dif.1_Missense_Mutation_p.D248N|NEXN_uc001dig.4_5'UTR	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	356	Glu-rich.				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)		AGTAGATGATGACTCCCCAGA	0.299000														35			4		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97082867	97082867	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:97082867G>A	uc004aup.1	-	4	1012	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	331	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				TCCTTGCTGGGAAGGTACACT	0.687000														13			6		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280766	152280766	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152280766G>A	uc001ezu.1	-	2	6632	c.6596C>T	c.(6595-6597)tCa>tTa	p.S2199L		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2199	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCATCTCCTGATTGTTCCTT	0.542000									Ichthyosis					395			174		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768049	57768050	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:57768049_57768050CC>TT	uc002yan.3	+	0	1975_1976	c.1975_1976CC>TT	c.(1975-1977)cct>TTt	p.P659F		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	659						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTGGGCTTTCCTCTGCAGAAA	0.579000														62			20		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325151	152325151	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152325151C>T	uc001ezw.4	-	2	5184	c.5111G>A	c.(5110-5112)aGa>aAa	p.R1704K	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1704							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)			GTGGGCATGTCTAGTGGTATC	0.493000														389			116		0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248085211	248085211	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248085211G>A	uc010pzc.2	+	0	892	c.892G>A	c.(892-894)Gcc>Acc	p.A298T		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G297R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTGAAGGGAGCCCTGACAAG	0.453000														129			51		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71485759	71485759	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:71485759C>T	uc001xmo.2	+	11	3476	c.3030C>T	c.(3028-3030)gtC>gtT	p.V1010V	PCNX_uc010are.1_Silent_p.V899V|PCNX_uc010arf.1_5'UTR	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1010						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGTTAGCTGTCATCCTGGCTA	0.398000														130			49		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172834990	172834990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:172834990C>T	uc003fin.4	-	1	716	c.532G>A	c.(532-534)Gta>Ata	p.V178I		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	178					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTTAAGGCTACCTGAAGCCAT	0.438000														162			19		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040194	107040194	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:107040194C>T	uc010ywi.1	-	19	4286	c.4229G>A	c.(4228-4230)aGa>aAa	p.R1410K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1410	RanBD1 2.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGGAGTTATTCTGTGATTGGC	0.373000														280			113		0	0	1	0	0
FGF3	2248	broad.mit.edu	37	11	69625426	69625426	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:69625426C>T	uc001oph.3	-	2	858	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_005247	NP_005238	P11487	FGF3_HUMAN	Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.	123					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	p.H122Q(1)|p.H122N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			TAGCCCAGCTCGTGGATCCGC	0.647000														69			20		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32035662	32035662	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32035662G>A	uc003nzl.2	-	17	6522	c.6320C>T	c.(6319-6321)tCc>tTc	p.S2107F		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2179	Fibronectin type-III 13.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGAGTCAGGGGAGGATCCTGT	0.682000														57			36		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137928454	137928454	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:137928454G>A	uc002tva.1	+	5	1576	c.1576G>A	c.(1576-1578)Gga>Aga	p.G526R	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G416R	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.G526R(1)|p.G557R(1)		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)		CCCTGATCATGGAAAATGTGG	0.522000														31			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599285	179599285	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179599285C>T	uc021vsy.1	-	48	11759	c.11534G>A	c.(11533-11535)gGa>gAa	p.G3845E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G506E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4772							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)			AGCATTTGTTCCTCTCACTAT	0.363000														134			30		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130841476	130841476	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:130841476C>T	uc001uik.3	+	12	1689	c.1418C>T	c.(1417-1419)cCa>cTa	p.P473L	PIWIL1_uc001uij.2_Missense_Mutation_p.P473L	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	473					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GATTACAATCCACAATTTGCA	0.368000														33			35		0	0	1	0	0
ENTPD2	954	broad.mit.edu	37	9	139944953	139944953	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139944953G>A	uc004ckw.2	-	5	866	c.812C>T	c.(811-813)tCc>tTc	p.S271F	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Missense_Mutation_p.S271F	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	271						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CACTTGGGTGGAAAAGCCCCT	0.642000											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			11		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21098223	21098223	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21098223G>A	uc010vbe.2	-	18	2824	c.2824C>T	c.(2824-2826)Ccc>Tcc	p.P942S		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	942	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGAGGATGGGAATGTACTGC	0.512000														208			51		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82834003	82834003	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:82834003G>A	uc003kii.3	+	7	5537	c.5181G>A	c.(5179-5181)gaG>gaA	p.E1727E	VCAN_uc003kij.3_Silent_p.E740E|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.E391E	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1727	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAAGGAAGGAGGAGGAGGGAA	0.403000														93			37		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027567	37027567	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:37027567C>T	uc004ddl.2	+	0	1136	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	362										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCAGAGACTCGCGTATCTCC	0.647000														59			39		0	0	1	0	0
RG9MTD2	93587	broad.mit.edu	37	4	100472066	100472066	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:100472066G>A	uc003huy.3	-	6	1040	c.727C>T	c.(727-729)Cga>Tga	p.R243*	RG9MTD2_uc003huz.4_Nonsense_Mutation_p.R243*|RG9MTD2_uc003hva.4_Nonsense_Mutation_p.R243*	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA.	243							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2)	19				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		AAAACTTTTCGACTATTCATC	0.348000														27			10		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96702058	96702058	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96702058G>A	uc001kka.4	+	2	466	c.441G>A	c.(439-441)gaG>gaA	p.E147E	CYP2C9_uc009xut.3_Silent_p.E147E|CYP2C9_uc001kjz.3_Silent_p.E147E	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	147					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GTGTTCAAGAGGAAGCCCGCT	0.502000														150			29		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22132409	22132409	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:22132409G>A	uc010vbq.2	+	12	1333	c.1237G>A	c.(1237-1239)Gtc>Atc	p.V413I	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.V400I	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	413						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GTGGCTTAAGGTCAATGGTCT	0.512000														76			10		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085016	17085016	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17085016G>C	uc010ock.2	-	10	1459	c.1459C>G	c.(1459-1461)Cgc>Ggc	p.R487G	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.R61G					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CCAGCCACGCGCAGCTTGGAA	0.602000														116			10		0	0	1	0	0
MPP4	58538	broad.mit.edu	37	2	202552063	202552063	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:202552063G>A	uc002uyk.4	-	4	519	c.311C>T	c.(310-312)tCc>tTc	p.S104F	MPP4_uc010ftj.3_Missense_Mutation_p.S104F|MPP4_uc010zhq.2_Missense_Mutation_p.S104F|MPP4_uc010zht.2_Intron|MPP4_uc010zhr.2_Missense_Mutation_p.S104F|MPP4_uc010zhs.2_Missense_Mutation_p.S104F|MPP4_uc002uyj.4_Missense_Mutation_p.S104F|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.S104F|MPP4_uc002uym.1_Missense_Mutation_p.S117F|MPP4_uc002uyn.3_Missense_Mutation_p.S104F	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	104	L27 2.					cytoplasm	protein binding			kidney(1)|lung(11)	12						GATCTCAGGGGAAGTAGGGGT	0.413000														9			3		0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73681055	73681055	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:73681055G>A	uc001ouo.3	+	7	1598	c.847G>A	c.(847-849)Gac>Aac	p.D283N		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	283					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					ATTGCCGGAGGACCCCACTAA	0.552000														144			67		0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598022	62598022	+	Missense_Mutation	SNP	G	A	A	rs140764494	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62598022G>A	uc002yhl.1	-	4	560	c.506C>T	c.(505-507)cCt>cTt	p.P169L		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTTGGAGGCAGGCAGGGGTCG	0.622000														79			22		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499567	104499567	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104499567C>T	uc004bbp.2	-	0	1296	c.695G>A	c.(694-696)aGt>aAt	p.S232N	GRIN3A_uc004bbq.1_Missense_Mutation_p.S232N	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	232					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding	p.E231E(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TCTCACCTGACTCTCCCGTGG	0.602000														34			13		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558038	140558038	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140558038G>A	uc011dai.2	+	0	668	c.423G>A	c.(421-423)gtG>gtA	p.V141V	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	141	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATGTTGGTGAAAGTATCAG	0.413000														105			33		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72941367	72941367	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:72941367G>A	uc001xna.4	+	9	1176	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	RGS6_uc021rvv.1_Missense_Mutation_p.R183Q|RGS6_uc010ttn.2_Missense_Mutation_p.R218Q|RGS6_uc021rvw.1_Missense_Mutation_p.R218Q|RGS6_uc021rvx.1_Missense_Mutation_p.R218Q|RGS6_uc021rvy.1_Missense_Mutation_p.R218Q|RGS6_uc021rvz.1_Missense_Mutation_p.R218Q|RGS6_uc001xmy.4_Missense_Mutation_p.R218Q|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.R218Q|RGS6_uc021rwa.1_Missense_Mutation_p.R218Q|RGS6_uc021rwb.1_Missense_Mutation_p.R218Q|RGS6_uc010ttp.1_Missense_Mutation_p.R149Q|RGS6_uc021rwc.1_Missense_Mutation_p.R79Q	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	218					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ATGGATATCCGAAAATGTCGA	0.363000														51			26		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102376371	102376371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:102376371C>T	uc003pqp.4	+	12	2242	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L	GRIK2_uc010kcw.3_Missense_Mutation_p.S650L|GRIK2_uc003pqo.4_Missense_Mutation_p.S650L|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	650					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	p.S650S(1)		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)	ATCATTTCTTCGTATACTGCT	0.448000														31			29		0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100443816	100443816	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:100443816G>A	uc003huw.3	+	2	649	c.287G>A	c.(286-288)gGa>gAa	p.G96E	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	96										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CCTGTAAGAGGAATGTCGCCA	0.507000														85			24		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50959019	50959019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50959019G>A	uc009xog.3	-	5	877	c.843C>T	c.(841-843)ttC>ttT	p.F281F	OGDHL_uc001jie.3_Silent_p.F254F|OGDHL_uc010qgt.2_Silent_p.F197F|OGDHL_uc010qgu.2_Silent_p.F45F|OGDHL_uc009xoh.2_Silent_p.F45F	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	254					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.I281L(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TCCGGGCCAGGAAGTCTTCAA	0.567000														10			4		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124380660	124380660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124380660G>A	uc001lgk.1	+	40	5091	c.4985G>A	c.(4984-4986)gGa>gAa	p.G1662E	DMBT1_uc001lgl.1_Missense_Mutation_p.G1652E|DMBT1_uc001lgm.1_Missense_Mutation_p.G1034E|DMBT1_uc021qaf.1_Missense_Mutation_p.G1662E|DMBT1_uc021qag.1_Missense_Mutation_p.G1652E|DMBT1_uc021qah.1_Missense_Mutation_p.G1034E|DMBT1_uc009xzz.1_Missense_Mutation_p.G1662E|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.G365E|DMBT1_uc009yac.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1662	SRCR 13.				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.W1661C(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)				GGCTCCTGGGGAACCGTGTGT	0.592000														324			117		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3673312	3673312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3673312G>A	uc002wja.3	-	14	3886	c.3886C>T	c.(3886-3888)Cac>Tac	p.H1296Y	SIGLEC1_uc002wiz.4_Missense_Mutation_p.H1296Y|SIGLEC1_uc002wjb.1_5'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1296	Ig-like C2-type 13.				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						CGACCGTTGTGGTACCAAGTA	0.647000														36			14		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70961825	70961825	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:70961825G>A	uc003pfg.4	-	27	2029	c.1870C>T	c.(1870-1872)Cct>Tct	p.P624S	COL9A1_uc003pfe.4_Missense_Mutation_p.P197S|COL9A1_uc003pff.4_Missense_Mutation_p.P381S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	624	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ATACTCACAGGAAGCCCCTGG	0.483000														110			56		0	0	1	0	0
ENO1	2023	broad.mit.edu	37	1	8924024	8924025	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:8924024_8924025GG>AT	uc001apj.2	-	8	1514_1515	c.992_993CC>AT	c.(991-993)gcc>gAT	p.A331D	ENO1_uc001api.2_Missense_Mutation_p.A238D|ENO1_uc009vml.2_Missense_Mutation_p.A331D	NM_001428	NP_001188412	P06733	ENOA_HUMAN	Homo sapiens enolase 1, (alpha) (ENO1), transcript variant 1, mRNA.	331					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TCTCGTTCACGGCCTTGGCGAT	0.564000														212			79		0	0	1	0	0
SPTLC2	9517	broad.mit.edu	37	14	78021720	78021720	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:78021720G>A	uc001xub.3	-	7	1287	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S		NM_004863	NP_004854	O15270	SPTC2_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 2 (SPTLC2), mRNA.	367						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.P367P(1)		kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACATCCTCGGGATCCAGGCCA	0.512000														139			77		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300147	18300147	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:18300147G>A	uc002zng.4	-	25	5633	c.5280C>T	c.(5278-5280)tgC>tgT	p.C1760C	MICAL3_uc011agl.2_Silent_p.C1676C|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1760						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGGTGCTGGGGCAGGACTTGT	0.637000														17			15		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173517593	173517593	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:173517593C>T	uc001giz.2	-	11	1819	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	SLC9C2_uc009wwe.2_Missense_Mutation_p.E24K|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	466					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AAAATTTTTTCTGTTTTAAAT	0.348000														60			22		0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72338444	72338444	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:72338444C>T	uc010iic.3	+	13	1777	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C	SLC4A4_uc003hfy.3_Missense_Mutation_p.R554C|SLC4A4_uc010iib.3_Missense_Mutation_p.R554C|SLC4A4_uc003hfz.3_Missense_Mutation_p.R554C|SLC4A4_uc003hgc.4_Missense_Mutation_p.R510C|SLC4A4_uc010iid.3_Intron|SLC4A4_uc003hga.2_Missense_Mutation_p.R432C|SLC4A4_uc003hgb.3_Missense_Mutation_p.R510C	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	554			R -> H (in pRTA-OA; mistargeting and altered function).			basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTTGGAGTTTCGCCTTTGGAT	0.408000														223			94		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097768	167097768	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167097768G>A	uc001geb.1	+	4	3416	c.3400G>A	c.(3400-3402)Gat>Aat	p.D1134N		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	1134					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAAATGGACGATGAAGCCAT	0.522000														40			16		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127340602	127340602	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:127340602C>T	uc003ejp.3	+	15	2758	c.2701C>T	c.(2701-2703)Ctg>Ttg	p.L901L	MCM2_uc011bkm.2_Silent_p.L771L|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Silent_p.L854L	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	901					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GAAAATGATCCTGCAGCAGTT	0.493000														49			18		0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14577496	14577496	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:14577496C>T	uc001rbw.3	+	1	805	c.647C>T	c.(646-648)cCt>cTt	p.P216L	ATF7IP_uc010shs.1_Missense_Mutation_p.P216L|ATF7IP_uc001rbu.3_Missense_Mutation_p.P216L|ATF7IP_uc001rbv.1_Missense_Mutation_p.P216L|ATF7IP_uc001rbx.3_Missense_Mutation_p.P216L|ATF7IP_uc010sht.1_Missense_Mutation_p.P216L|ATF7IP_uc001rby.4_Missense_Mutation_p.P216L|ATF7IP_uc001rbz.1_Missense_Mutation_p.P216L|ATF7IP_uc001rca.3_Missense_Mutation_p.P216L|ATF7IP_uc001rcb.3_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	216					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GAACCGGTCCCTGTTGAACCC	0.522000														115			39		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110831287	110831287	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:110831287C>T	uc001vqw.4	-	30	2563	c.2441G>A	c.(2440-2442)gGa>gAa	p.G814E		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	814	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCCGGTGGTCCCTGTCCTCC	0.587000														13			8		0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24590594	24590594	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24590594C>T	uc001wlv.3	+	12	1547	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S	DCAF11_uc001wlw.3_Missense_Mutation_p.P423S|DCAF11_uc001wlz.3_Missense_Mutation_p.P323S|DCAF11_uc001wly.3_Missense_Mutation_p.P379S|DCAF11_uc010tny.2_Missense_Mutation_p.P290S|DCAF11_uc001wmc.3_Missense_Mutation_p.P323S|DCAF11_uc001wmb.4_Missense_Mutation_p.P397S|DCAF11_uc001wma.4_Missense_Mutation_p.P423S	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	423						CUL4 RING ubiquitin ligase complex	protein binding										GCTGAAGCTCCCAGGGGACAG	0.572000														110			43		0	0	1	0	0
IL28B	282617	broad.mit.edu	37	19	39735067	39735067	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39735067C>T	uc010xut.2	-	1	250	c.248G>A	c.(247-249)aGg>aAg	p.R83K	IL28B_uc010xuu.2_Missense_Mutation_p.R83K	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA.	83					response to virus	extracellular space	cytokine activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTGCAGCTGCCTCAGGTCCCA	0.632000														25			4		0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865039	118865039	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:118865039G>A	uc003ecb.1	+	0	43	c.3G>A	c.(1-3)atG>atA	p.M1I	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.M1I	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	1										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GGCAGGAAATGGAAGAGCCTC	0.617000														24			5		0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133811053	133811053	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133811053C>T	uc003ytt.3	+	4	701	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	PHF20L1_uc003ytr.3_Missense_Mutation_p.R126C|PHF20L1_uc010mdv.3_Missense_Mutation_p.R126C|PHF20L1_uc003yts.3_Missense_Mutation_p.R126C|PHF20L1_uc011lja.2_Missense_Mutation_p.R126C|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	126	Tudor 2.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGGAGTAATTCGTTGTTTAAA	0.373000														22			8		0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38345344	38345344	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:38345344C>T	uc010qev.2	+	3	2414	c.2310C>T	c.(2308-2310)ctC>ctT	p.L770L	ZNF33A_uc001izg.3_Silent_p.L764L|ZNF33A_uc001izh.3_Silent_p.L763L|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Silent_p.L764L	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	763						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGTCAAATCTCATTGTACATC	0.383000														90			30		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98744738	98744738	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:98744738C>T	uc002syo.3	+	5	1003	c.739C>T	c.(739-741)Cct>Tct	p.P247S	VWA3B_uc010yvh.2_Missense_Mutation_p.P97S|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Missense_Mutation_p.P247S|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	247										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGGGGATGTTCCTGAAGAATC	0.498000														108			47		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37451769	37451769	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:37451769G>A	uc021ppc.1	+	16	1926	c.1827G>A	c.(1825-1827)ttG>ttA	p.L609L	ANKRD30A_uc001iza.1_Silent_p.L609L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	665						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.T608T(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACAAACATTGAGAGCAGGTA	0.328000														72			35		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196619103	196619103	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196619103C>T	uc002utj.4	-	62	11823	c.11722G>A	c.(11722-11724)Gaa>Aaa	p.E3908K	DNAH7_uc002uti.4_Missense_Mutation_p.E391K	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3908					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCATCACTTCATAGTCAAAC	0.463000														80			11		0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74622450	74622451	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74622450_74622451CC>TT	uc002jsh.3	-	5	1509_1510	c.1335_1336GG>AA	c.(1333-1338)ctggaa>ctAAaa	p.E446K	ST6GALNAC1_uc002jsi.3_Missense_Mutation_p.E314K|ST6GALNAC1_uc002jsj.3_Intron	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA.	446					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CGGGTGCCTTCCAGGAAGTGCA	0.559000														54			22		0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159259	39159259	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:39159259C>T	uc003oon.3	-	4	1271	c.907G>A	c.(907-909)Gac>Aac	p.D303N		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	303					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.D303Y(2)|p.D303N(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TTGATGAGGTCGTTGTAGGTC	0.627000														190			60		0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57118354	57118354	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57118354C>T	uc001nju.3	+	7	1008	c.824C>T	c.(823-825)tCc>tTc	p.S275F		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	275					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.S275Y(2)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						AGCAGCGTGTCCCCAGGCTAC	0.552000														74			17		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43679421	43679421	+	Missense_Mutation	SNP	G	A	A	rs150587441	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43679421G>A	uc002ovu.3	-	3	1041	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.R304C	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	304	Ig-like C2-type 2.				female pregnancy	extracellular region		p.R304C(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GCTGAGTTACGAACAGAGCAA	0.443000														262			106		0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71044053	71044053	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71044053C>T	uc002shf.3	-	3	537	c.460G>A	c.(460-462)Gga>Aga	p.G154R	CLEC4F_uc010yqv.1_Missense_Mutation_p.G154R	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	154					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTTAGAACTCCTTTTACCATC	0.478000														91			19		0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207564458	207564458	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:207564458C>T	uc002vbr.1	-	6	829	c.712G>A	c.(712-714)Gga>Aga	p.G238R		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	238						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TACCTGAGTCCCGTGATTGGG	0.527000														42			4		0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371562	55371562	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55371562C>T	uc010rii.2	-	0	313	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AGACTTGTGTCATGCACTCAT	0.413000														101			53		0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	357510	357510	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:357510C>T	uc002kkm.3	-	2	286	c.71G>A	c.(70-72)gGa>gAa	p.G24E		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	24					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				ACATTGTGTTCCTTCCTGAAT	0.303000														59			17		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076249	9076250	+	Silent	DNP	GA	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9076249_9076250GA>AT	uc002mkp.3	-	2	11400_11401	c.11196_11197TC>AT	c.(11194-11199)tctctg>tcATtg	p.3732_3733SL>SL		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3733	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L3733Q(1)|p.S3732T(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						AGAGTGGACAGAGAATCAAACA	0.500000														84			17		0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4736418	4736418	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4736418G>A	uc001qnb.4	-	3	1894	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	550					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CAGCTTCAACGAAGCTCCGTG	0.532000														40			17		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70257751	70257751	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:70257751G>A	uc001dep.3	+	1	245	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	LRRC7_uc001deo.1_Missense_Mutation_p.R110Q|LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	72						centrosome|focal adhesion|nucleolus	protein binding	p.R72G(1)		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						CAAGCTCTACGAAAACTAAGT	0.294000														78			26		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108124224	108124224	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108124224C>T	uc003dxa.1	-	33	4814	c.4757G>A	c.(4756-4758)aGa>aAa	p.R1586K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1586						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						TGAAAGCTTTCTTTCAAGTTC	0.328000														26			22		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62195402	62195402	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62195402G>A	uc002yfm.2	-	8	5665	c.4773C>T	c.(4771-4773)ccC>ccT	p.P1591P	PRIC285_uc002yfl.1_Silent_p.P1022P	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1591					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GCGTGTCGGGGGGACTGCCCC	0.687000														10			4		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21042517	21042517	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21042517C>T	uc010vbe.2	-	36	5289	c.5289G>A	c.(5287-5289)gtG>gtA	p.V1763V		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1763	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTCGTGGCTCACTTGGTCAA	0.522000														67			21		0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799376	45799376	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:45799376G>A	uc001jcc.1	-	3	804	c.495C>T	c.(493-495)gcC>gcT	p.A165A	OR13A1_uc001jcd.1_Silent_p.A161A|OR13A1_uc021ppq.1_Silent_p.A165A	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GCAGCCACACGGCTGTGGCCA	0.597000														54			14		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70928354	70928354	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:70928354G>A	uc002ezr.3	-	54	9394	c.9243C>T	c.(9241-9243)ttC>ttT	p.F3081F		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3082										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)				CCAGTTACCTGAACGCGATCT	0.522000														46			12		0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5241338	5241338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:5241338C>T	uc002gbm.4	+	4	777	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	RABEP1_uc010clc.1_Missense_Mutation_p.R185W|RABEP1_uc010cld.1_Missense_Mutation_p.R142W|RABEP1_uc010vsw.1_Missense_Mutation_p.R142W|RABEP1_uc002gbl.4_Missense_Mutation_p.R185W|RABEP1_uc002gbk.2_Missense_Mutation_p.R185W	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	185					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TGAGAAACTTCGGTCCGTTGT	0.398000														63			48		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848916	73848916	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:73848916G>A	uc003xzb.3	+	2	1914	c.1326G>A	c.(1324-1326)cgG>cgA	p.R442R		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	442					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)			CTCTTGAGCGGGCCAAAAGGA	0.453000														83			26		0	0	1	0	0
ACTL7A	10881	broad.mit.edu	37	9	111624631	111624631	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:111624631G>A	uc004bdj.1	+	0	29	c.29G>A	c.(28-30)gGg>gAg	p.G10E		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	Homo sapiens actin-like 7A (ACTL7A), mRNA.	10						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCAATCATGGGGGATGGGCCC	0.597000														63			22		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233085	21233085	+	Missense_Mutation	SNP	G	A	A	rs141641980		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21233085G>A	uc002red.3	-	25	6783	c.6655C>T	c.(6655-6657)Cgt>Tgt	p.R2219C		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2219					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAATTTACACGGATATGATAG	0.254000														49			12		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382697	22382697	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22382697C>T	uc001yuc.1	+	6	1206	c.225C>T	c.(223-225)ttC>ttT	p.F75F	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.F75F	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTACTCCTTCATTGTGGCTC	0.478000														233			56		0	0	1	0	0
SLC16A13	201232	broad.mit.edu	37	17	6941598	6941598	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:6941598C>T	uc002geh.3	+	2	779	c.471C>T	c.(469-471)ccC>ccT	p.P157P		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	157						integral to membrane|plasma membrane	symporter activity	p.A156S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CATTTGCCCCCTTTTTCCAGT	0.652000														30			30		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21227219	21227219	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21227219G>A	uc002red.3	-	27	12137	c.12009C>T	c.(12007-12009)tcC>tcT	p.S4003S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4003					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTACGGCTGGGGAGGCTGCTG	0.502000														88			17		0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33093395	33093395	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:33093395G>A	uc011axk.1	-	8	1155	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A	GLB1_uc003cfh.1_Silent_p.A268A|GLB1_uc003cfi.1_Silent_p.A298A|GLB1_uc003cfj.1_Silent_p.A167A	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	298			K -> N (in GM1G1).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	p.K346T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TCGCCCCACGGGCAAGTATAT	0.512000														65			21		0	0	1	0	0
GPR52	9293	broad.mit.edu	37	1	174417609	174417609	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:174417609C>T	uc010pmu.1	-	0		c.726G>A			RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron|GPR52_uc001gka.1_Silent_p.I120I			Q9Y2T5	GPR52_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022628 3' read GPR52 mRNA.							integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TTGGATATATCATCTCAGTTC	0.428000														195			84		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071818	17071818	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17071818C>T	uc002zlp.1	-	0	1883	c.1623G>A	c.(1621-1623)aaG>aaA	p.K541K		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	541					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTGGGTGTTTCTTTGTCTTCT	0.443000														145			36		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128482972	128482973	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128482972_128482973GG>AA	uc003vnz.4	+	15	2723_2724	c.2514_2515GG>AA	c.(2512-2517)gcgggc>gcAAgc	p.G839S	FLNC_uc003voa.4_Missense_Mutation_p.G839S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	839					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACCAGGGGCGGGCCGCTACAC	0.594000														47			5		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100169943	100169943	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:100169943C>T	uc001pga.3	+	19	2939	c.2435C>T	c.(2434-2436)gCt>gTt	p.A812V	CNTN5_uc001pfz.3_Missense_Mutation_p.A812V|CNTN5_uc021qpb.1_Missense_Mutation_p.A812V|CNTN5_uc021qpc.1_Missense_Mutation_p.A738V|CNTN5_uc010ruk.2_Missense_Mutation_p.A83V	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	812	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TATATTGTGGCTTTCAGACCC	0.378000														31			12		0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100730827	100730827	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100730827C>T	uc003uxq.3	+	2	465	c.234C>T	c.(232-234)ttC>ttT	p.F78F	TRIM56_uc003uxr.3_Silent_p.F78F|TRIM56_uc022aiw.1_Silent_p.F78F	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	78					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAACTTCTTCGTCAATGGGC	0.692000														78			45		0	0	1	0	0
C15orf43	145645	broad.mit.edu	37	15	45249110	45249110	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45249110G>A	uc001zuk.3	+	1	95	c.81G>A	c.(79-81)acG>acA	p.T27T		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.	27										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		AAGGGGGAACGATCAGTGACC	0.587000														70			9		0	0	1	0	0
NENF	29937	broad.mit.edu	37	1	212619322	212619322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:212619322C>T	uc001hjd.3	+	3	550	c.493C>T	c.(493-495)Cat>Tat	p.H165Y	NENF_uc010ptf.2_Non-coding_Transcript	NM_013349	NP_037481	Q9UMX5	NENF_HUMAN	Homo sapiens neudesin neurotrophic factor (NENF), transcript variant 1, mRNA.	165						extracellular space	heme binding			endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		AGACCAGCCCCATTTTGACAT	0.522000														73			18		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95748146	95748146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:95748146G>A	uc003kls.2	-	6	997	c.758C>T	c.(757-759)tCa>tTa	p.S253L	PCSK1_uc010jbi.2_Missense_Mutation_p.S14L|PCSK1_uc021ybq.1_Missense_Mutation_p.S206L	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	253	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAATCCAATTGAACTGGCCTC	0.468000														56			20		0	0	1	0	0
LOC643201	643201	broad.mit.edu	37	5	175572124	175572124	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:175572124C>T	uc003mdn.3	-	24		c.3654G>A								Homo sapiens centrosomal protein 192kDa pseudogene (LOC643201), non-coding RNA.																		AGGTTTACTTCCTGAAGAATG	0.413000														27			5		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793010	65793010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65793010C>T	uc001ogt.3	-	0	979	c.841G>A	c.(841-843)Gac>Aac	p.D281N		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	281	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						tggggatggtcgccatggtgg	0.577000														11			3		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90503636	90503636	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90503636C>T	uc004app.4	+	3	4269	c.4234C>T	c.(4234-4236)Cca>Tca	p.P1412S		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1412						integral to membrane											GCCTGTGTCCCCAGCTGGTCC	0.627000														38			18		0	0	1	0	0
RXRG	6258	broad.mit.edu	37	1	165378827	165378827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:165378827G>A	uc001gda.3	-	6	1476	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	RXRG_uc021pea.1_Silent_p.A215A	NM_006917	NP_008848	P48443	RXRG_HUMAN	Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA.	338	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CAGCACTGTGGGCACTGCTCC	0.522000														29			13		0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36766013	36766013	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:36766013G>A	uc003omr.1	-	5	400	c.333C>T	c.(331-333)ttC>ttT	p.F111F	CPNE5_uc003oms.1_Silent_p.F73F	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	111	C2 1.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCTGGCCCAGGAAATCCTGCA	0.602000														20			8		0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164506928	164506928	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:164506928C>T	uc003iqs.2	-	5	578	c.396G>A	c.(394-396)atG>atA	p.M132I	MARCH1_uc003iqr.2_Missense_Mutation_p.M115I	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	132					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	p.T131T(2)		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)				GCTTGGTCTCCATTATGAAGT	0.483000														80			35		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100645220	100645220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:100645220C>T	uc003dun.3	-	1	291	c.206G>A	c.(205-207)gGa>gAa	p.G69E	ABI3BP_uc003duo.2_Missense_Mutation_p.G62E|ABI3BP_uc003dup.4_Missense_Mutation_p.G62E	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	69						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCTGCCATATCCCAGGAGAAG	0.473000														70			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8976750	8976750	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8976750G>A	uc002mkp.3	-	72	42520	c.42316C>T	c.(42316-42318)Ctt>Ttt	p.L14106F	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.L906F|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14137	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						AGGTGCTGAAGGACCCCCTCG	0.552000														33			11		0	0	1	0	0
IFNA10	3446	broad.mit.edu	37	9	21206699	21206699	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21206699G>A	uc003zoq.1	-	0	444	c.398C>T	c.(397-399)cCc>cTc	p.P133L	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	133					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		ATTCATCAGGGGAGTCTCTTC	0.463000														153			53		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50367249	50367249	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:50367249C>T	uc003tow.4	+	2	211	c.56C>T	c.(55-57)cCt>cTt	p.P19L	IKZF1_uc022acq.1_Missense_Mutation_p.P19L|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Missense_Mutation_p.P19L|IKZF1_uc022acu.1_Missense_Mutation_p.P19L|IKZF1_uc003tox.4_Missense_Mutation_p.P19L|IKZF1_uc022acv.1_Missense_Mutation_p.P19L|IKZF1_uc022acw.1_Missense_Mutation_p.P19L|IKZF1_uc022acx.1_Missense_Mutation_p.P19L|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Missense_Mutation_p.P19L|IKZF1_uc003toy.4_Missense_Mutation_p.P19L|IKZF1_uc003toz.4_5'UTR|IKZF1_uc010kyx.3_5'UTR|IKZF1_uc003tov.1_Missense_Mutation_p.P19L	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	19					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(33)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAAAGCCCCCCTGTAAGCGAT	0.597000			"""D,T"""	BCL6	"""ALL, DLBCL"""									18			5		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42635205	42635205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42635205G>A	uc010ggo.3	+	2	224	c.184G>A	c.(184-186)Gag>Aag	p.E62K	TOX2_uc002xle.4_Missense_Mutation_p.E20K|TOX2_uc010ggp.3_Missense_Mutation_p.E20K|TOX2_uc002xlf.4_Missense_Mutation_p.E71K|Metazoa_SRP_uc021wdz.1_5'Flank	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CGGCCAGAGCGAGAACAACGA	0.547000														102			39		0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48565282	48565282	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:48565282G>A	uc010xzd.2	-	13	1597	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	PLA2G4C_uc002phw.3_Silent_p.F345F|PLA2G4C_uc010elr.3_Silent_p.F410F|PLA2G4C_uc002phx.3_Silent_p.F410F	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	410	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CACTGAAGTCGAAGGAGAGGA	0.622000														104			49		0	0	1	0	0
TTC35	9694	broad.mit.edu	37	8	109498750	109498750	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:109498750C>T	uc003ymw.1	+	10	852	c.817C>T	c.(817-819)Cga>Tga	p.R273*		NM_014673	NP_055488	Q15006	TTC35_HUMAN	Homo sapiens tetratricopeptide repeat domain 35 (TTC35), mRNA.	273						endoplasmic reticulum|nucleus	binding	p.R273*(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)			GTTTGCAGGTCGAAGTAAGAA	0.333000														36			14		0	0	1	0	0
GPN3	51184	broad.mit.edu	37	12	110895370	110895370	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:110895370A>G	uc021rdu.1	-	3	597	c.512T>C	c.(511-513)tTc>tCc	p.F171S	GPN3_uc001tqr.3_Missense_Mutation_p.F132S|GPN3_uc001tqs.3_Missense_Mutation_p.F142S	NM_001164372	NP_001157844	Q9UHW5	GPN3_HUMAN	Homo sapiens GPN-loop GTPase 3 (GPN3), transcript variant 2, mRNA.	132						protein complex	GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						ACAGACTCGGAACTCCCACTG	0.393000														43			20		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108380691	108380691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:108380691C>T	uc001pkk.3	-	5	5654	c.5543G>A	c.(5542-5544)aGa>aAa	p.R1848K	EXPH5_uc010rvz.2_Missense_Mutation_p.R1692K|EXPH5_uc010rvy.2_Missense_Mutation_p.R1660K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1848					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGATCTGAATCTTCGACTGTA	0.458000														41			22		0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3628883	3628883	+	Missense_Mutation	SNP	C	T	T	rs150287837		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3628883C>T	uc002fwp.3	+	0	1687	c.1654C>T	c.(1654-1656)Cgc>Tgc	p.R552C	ITGAE_uc002fwo.4_Intron|ITGAE_uc002fwn.4_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	Homo sapiens germ cell associated 2 (haspin) (GSG2), mRNA.	552	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										AGTGTGCAACCGCACAGAAGG	0.478000														34			33		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227895176	227895176	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:227895176C>T	uc021vxr.1	-	39	4057	c.3956G>A	c.(3955-3957)gGa>gAa	p.G1319E	COL4A4_uc021vxs.1_Missense_Mutation_p.G1319E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1319	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCCATCTTTTCCATCACATCC	0.522000														118			35		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8657649	8657649	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8657649C>T	uc002mkj.1	-	12	1859	c.1585G>A	c.(1585-1587)Ggg>Agg	p.G529R	ADAMTS10_uc002mki.1_5'Flank|ADAMTS10_uc002mkk.1_Missense_Mutation_p.G161R	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	529	Disintegrin.				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						GCGCTCACCCCCTTGTCGATG	0.682000														14			3		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999223	27999223	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:27999223C>T	uc004dbx.1	-	0	344	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	77	Glu-rich.									NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TCGACGTCTTCACTTGAACTT	0.488000														39			40		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27803388	27803388	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27803388G>A	uc002rkz.4	+	0	4000	c.3949G>A	c.(3949-3951)Gaa>Aaa	p.E1317K	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1317										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCCTTCTAGGGAATTAGCAGC	0.398000														64			13		0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65811104	65811104	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65811104G>A	uc001ogv.3	-	1	330	c.170C>T	c.(169-171)tCg>tTg	p.S57L	GAL3ST3_uc001ogw.3_Missense_Mutation_p.S57L	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	57					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GCGCGGCGGCGAGTTCCGCAG	0.652000														33			12		0	0	1	0	0
ANKRD5	63926	broad.mit.edu	37	20	10032366	10032366	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:10032366C>T	uc002wno.3	+	7	2092	c.1699C>T	c.(1699-1701)Cat>Tat	p.H567Y	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.H567Y|ANKRD5_uc010gbz.3_Missense_Mutation_p.H378Y	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	567							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						TTTTGCATGCCATGCAGGCCA	0.368000														68			18		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10554890	10554890	+	Silent	SNP	G	A	A	rs148322984		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10554890G>A	uc002gmq.2	-	4	532	c.444C>T	c.(442-444)cgC>cgT	p.R148R		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	148	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGGCCTCCTGGCGCTTTTTGC	0.577000														113			95		0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179728597	179728597	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:179728597G>A	uc003mlw.1	-	18	2114	c.2016C>T	c.(2014-2016)ccC>ccT	p.P672P		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	672	SIS 2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	p.P672S(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCAGATTTCTGGGGAAGTCAA	0.453000														81			22		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150553935	150553935	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150553935G>A	uc003why.1	+	2	4595	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	ABP1_uc003whz.1_Missense_Mutation_p.R126Q|ABP1_uc003wia.1_Missense_Mutation_p.R126Q	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	126					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	TGCTACATGCGAGCACTGTCC	0.637000														84			36		0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46177384	46177384	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46177384C>T	uc002pcu.1	+	5	536	c.437C>T	c.(436-438)tCc>tTc	p.S146F	GIPR_uc002pct.1_Missense_Mutation_p.S146F|GIPR_uc010xxp.1_Missense_Mutation_p.S110F|GIPR_uc010xxq.1_Non-coding_Transcript|MIR642A_uc021uvx.1_5'Flank	NM_000164	NP_000155	P48546	GIPR_HUMAN	Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA.	146					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GTCGGCTACTCCCTGTCTCTC	0.592000														178			64		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20966148	20966148	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20966148G>A	uc010vbe.2	-	54	11058	c.11058C>T	c.(11056-11058)aaC>aaT	p.N3686N	DNAH3_uc010vbd.2_Silent_p.N1121N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3686	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGGGGCCGAAGTTTCTTCTCT	0.488000														127			34		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058065	53058065	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53058065C>T	uc010epq.1	+	4	2073	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACACAGCTTTCACGTGGAATT	0.408000														72			15		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150907031	150907031	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:150907031G>A	uc004fey.1	+	1	300	c.76G>A	c.(76-78)Gcc>Acc	p.A26T		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	26					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)					TGCCATCAAGGCCAATGGCAA	0.502000														33			43		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56183149	56183149	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:56183149G>A	uc021wzo.1	-	3	1301	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	ERC2_uc003dhr.1_Silent_p.I387I	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	387						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCAATGAAGCGATTTTTGTGT	0.333000														28			5		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158589027	158589027	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158589027C>T	uc001fst.1	-	44	6714	c.6515G>A	c.(6514-6516)tGg>tAg	p.W2172*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2172					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.W2172C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCCAGGATCCATTGAAGGAA	0.483000														133			63		0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974679	64974679	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:64974679G>A	uc001jmn.3	-	7	1548	c.1248C>T	c.(1246-1248)ccC>ccT	p.P416P	JMJD1C_uc001jml.3_Silent_p.P197P|JMJD1C_uc001jmm.3_Silent_p.P128P|JMJD1C_uc010qiq.2_Silent_p.P234P|JMJD1C_uc009xpi.3_Silent_p.P234P|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Silent_p.P128P	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	416					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CATTATTATGGGGTTTTCCTT	0.348000														57			18		0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14157366	14157367	+	Missense_Mutation	DNP	GG	AA	AA	rs140727303		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:14157366_14157367GG>AA	uc002mxx.3	+	7	1500_1501	c.1077_1078GG>AA	c.(1075-1080)ggggac>ggAAac	p.D360N		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	360	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CTCGAGATGGGGACCCCCTGGA	0.644000														100			31		0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711301	20711301	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20711301G>A	uc010tld.2	+	0	351	c.351G>A	c.(349-351)ctG>ctA	p.L117L		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TCTTTTCACTGGGAACAACTG	0.463000														95			21		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38995970	38995970	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38995970G>A	uc002oit.3	+	52	8462	c.8332G>A	c.(8332-8334)Gga>Aga	p.G2778R	RYR1_uc002oiu.3_Missense_Mutation_p.G2778R|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2778	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGGTCCTATGGAGAGAACAT	0.602000														20			12		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50208317	50208317	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50208317C>T	uc010eng.3	+	8	1141	c.825C>T	c.(823-825)gcC>gcT	p.A275A	CPT1C_uc002ppl.4_Silent_p.A241A|CPT1C_uc002ppi.3_Silent_p.A192A|CPT1C_uc002ppk.3_Silent_p.A264A|CPT1C_uc010enh.3_Silent_p.A275A|CPT1C_uc002ppj.3_Silent_p.A275A|CPT1C_uc010ybc.1_Silent_p.A113A|CPT1C_uc010eni.1_5'Flank	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	275					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTGGGAATGCCGTCCATGCCC	0.647000														63			34		0	0	1	0	0
SF3A1	10291	broad.mit.edu	37	22	30742459	30742459	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:30742459G>A	uc003ahl.3	-	2	367	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	SF3A1_uc021wnt.1_Missense_Mutation_p.P79S	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	79					nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TTGAACTTGGGGTTGTTGATC	0.517000														115			38		0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127796962	127796962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:127796962C>T	uc003qbd.3	-	5	3074	c.2209G>A	c.(2209-2211)Gac>Aac	p.D737N	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	737						integral to membrane											GAGGCCAGGTCGTAGCGCTGC	0.677000														50			54		0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53520004	53520004	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:53520004C>T	uc003pcb.4	-	1	208	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GGGCTATCTTCTACGATTATA	0.418000														47			21		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445091	150445091	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:150445091C>T	uc009wlr.3	+	10	3868	c.3667C>T	c.(3667-3669)Cat>Tat	p.H1223Y	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Missense_Mutation_p.H1197Y	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1223	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCCTAAGGATCATGGTGGTAT	0.572000														101			36		0	0	1	0	0
PKD1P1	339044	broad.mit.edu	37	16	16415110	16415110	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:16415110C>T	uc002der.3	+	0		c.602C>T								Homo sapiens polycystic kidney disease 1 (autosomal dominant) pseudogene 1 (PKD1P1), non-coding RNA.																		GTAGCACTGCCGTGGCTCGGT	0.652000														13			7		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45725690	45725690	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:45725690C>T	uc003tne.4	+	12	2221	c.2203C>T	c.(2203-2205)Ctg>Ttg	p.L735L		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	735					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GCTCTGCTGCCTGGTGGGCAC	0.617000														47			27		0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111769563	111769563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:111769563G>A	uc010hqb.2	+	6	928	c.758G>A	c.(757-759)gGg>gAg	p.G253E	TMPRSS7_uc011bhr.1_Missense_Mutation_p.G108E	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	379	CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGCTTTGAAGGGAAAATTTCA	0.403000														213			79		0	0	1	0	0
MRPL9	65005	broad.mit.edu	37	1	151734888	151734888	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151734888G>A	uc001eyv.3	-	2	484	c.399C>T	c.(397-399)tcC>tcT	p.S133S	MRPL9_uc009wmz.3_Non-coding_Transcript|MRPL9_uc010pdk.1_Silent_p.S133S|MRPL9_uc009wna.1_3'UTR|OAZ3_uc010pdl.2_5'Flank	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	Homo sapiens mitochondrial ribosomal protein L9 (MRPL9), nuclear gene encoding mitochondrial protein, mRNA.	133					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGTTTTCAGGGGATGCATATA	0.468000														147			19		0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135078869	135078869	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:135078869G>A	uc003vsv.2	-	9	1759	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	CNOT4_uc011kpy.2_Silent_p.F476F|CNOT4_uc011kpz.2_Silent_p.F473F|CNOT4_uc003vst.3_Silent_p.F476F|CNOT4_uc003vss.3_Silent_p.F473F|CNOT4_uc003vsu.2_Silent_p.F473F	NM_001190848	NP_001177777	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA.	476					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GAAATTGAGGGAACCTCTGGG	0.507000														90			40		0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24823824	24823824	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:24823824C>T	uc001upd.2	+	4	2441	c.1863C>T	c.(1861-1863)gaC>gaT	p.D621D	SPATA13_uc001upe.3_Intron|SPATA13_uc021rhg.1_Silent_p.D621D|SPATA13_uc001upg.2_5'UTR|SPATA13_uc010tcy.1_5'Flank|SPATA13_uc010tcz.2_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	0	C-terminal tail.				cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGACGAGGACCCCCAGGCAA	0.607000														136			37		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120584894	120584894	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:120584894G>A	uc001txo.3	-	37	4922	c.4909C>T	c.(4909-4911)Cag>Tag	p.Q1637*		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1637					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAATAATCTGGGCTGCCATC	0.552000														30			4		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26093564	26093564	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:26093564G>A	uc002gzu.3	-	18	2482	c.2218C>T	c.(2218-2220)Cgg>Tgg	p.R740W		NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	740	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGATTCTGCCGAGATTTGAGC	0.478000														101			29		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94519722	94519722	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:94519722C>T	uc004arj.2	-	2	494	c.295G>A	c.(295-297)Gat>Aat	p.D99N	ROR2_uc004ari.1_5'UTR|ROR2_uc004ark.3_Missense_Mutation_p.D99N	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	99	Ig-like C2-type.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACCGGGGCATCATTCTTTAGC	0.562000														105			35		0	0	1	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177553	89177553	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:89177553C>T	uc022bzr.1	+	0	469	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	TGIF2LX_uc004efe.3_Silent_p.L157L	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	157						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TGTACAAAGCCTGCCCCTGTG	0.612000														29			9		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120512162	120512162	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:120512162G>A	uc001eik.3	-	5	1377	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	NOTCH2_uc001eil.3_Silent_p.F360F|NOTCH2_uc021osy.1_Silent_p.F321F|NOTCH2_uc001eim.4_Silent_p.F277F	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	360	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACATGCAAGAGAAGGAGGCCA	0.562000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					37			4		0	0	1	0	0
PARPBP	55010	broad.mit.edu	37	12	102569432	102569432	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:102569432C>T	uc010swa.2	+	7	1336	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	PARPBP_uc001tjf.3_Silent_p.I331I|PARPBP_uc001tjg.3_Silent_p.I250I|PARPBP_uc001tjh.3_Silent_p.I250I|PARPBP_uc010swb.2_Intron|PARPBP_uc009zuc.3_Intron|PARPBP_uc001tjj.3_Silent_p.I46I|PARPBP_uc001tjk.3_Intron|PARPBP_uc009zud.3_Intron	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	Homo sapiens PARP1 binding protein (PARPBP), mRNA.	331					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						CCACTGACATCAGTCCTGCTC	0.318000														41			18		0	0	1	0	0
SETD7	80854	broad.mit.edu	37	4	140439176	140439176	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:140439176G>A	uc003ihw.3	-	6	1069	c.783C>T	c.(781-783)gcC>gcT	p.A261A		NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN	Homo sapiens SET domain containing (lysine methyltransferase) 7 (SETD7), mRNA.	261	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					TCCCATTAAGGGCCCAGTCCC	0.488000														33			8		0	0	1	0	0
PQLC1	80148	broad.mit.edu	37	18	77679198	77679198	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:77679198G>A	uc002lnl.2	-	4	766	c.594C>T	c.(592-594)tcC>tcT	p.S198S	PQLC1_uc010dre.2_Silent_p.S115S|PQLC1_uc002lnk.2_Silent_p.S180S|PQLC1_uc010xfm.1_Intron	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	Homo sapiens PQ loop repeat containing 1 (PQLC1), transcript variant 1, mRNA.	198	PQ-loop 2.					integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		TGCCCTCCGTGGACTGGTGGC	0.612000														39			12		0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45322706	45322706	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45322706A>G	uc002ozu.3	+	11	1621	c.1577A>G	c.(1576-1578)aAc>aGc	p.N526S	BCAM_uc002ozt.1_Missense_Mutation_p.N526S	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	526	Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GAAGCCTCCAACCCCCACGGG	0.647000														71			28		0	0	1	0	0
GPR27	2850	broad.mit.edu	37	3	71803825	71803825	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:71803825C>T	uc011bge.2	+	0	625	c.625C>T	c.(625-627)Cac>Tac	p.H209Y	EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_5'UTR	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA.	209						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CTTCTTCATCCACGACCGCCG	0.761000														6			6		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508190	37508190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:37508190G>A	uc021ppc.1	+	33	3481	c.3382G>A	c.(3382-3384)Gaa>Aaa	p.E1128K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E1128K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1184						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAAATTGAAGGAAAAACAAGA	0.368000														146			10		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80752498	80752498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:80752498G>A	uc001szd.3	+	49	6148	c.6142G>A	c.(6142-6144)Gat>Aat	p.D2048N	OTOGL_uc021rba.1_Missense_Mutation_p.D67N|OTOGL_uc009zsg.2_5'UTR	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTGTGCAGAAGATATGAATCT	0.313000														44			10		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42457418	42457418	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:42457418G>A	uc003gwr.2	-	28	2945	c.2713C>T	c.(2713-2715)Cct>Tct	p.P905S	ATP8A1_uc003gwq.2_Missense_Mutation_p.P131S|ATP8A1_uc003gws.2_Missense_Mutation_p.P890S	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	905					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AGAGTTAAAGGAGGCATTGCT	0.398000														92			31		0	0	1	0	0
TREML1	340205	broad.mit.edu	37	6	41121769	41121769	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:41121769G>A	uc011duc.2	-	1	147	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L	TREML1_uc003opx.3_Silent_p.L35L|TREML1_uc011dud.2_Intron	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 1 (TREML1), mRNA.	35	Ig-like V-type.				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACTGCACCAGAATGGAGCTT	0.617000														31			11		0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32376538	32376538	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:32376538C>T	uc001utt.3	+	17	2332	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	RXFP2_uc010aba.3_Missense_Mutation_p.S730F	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	754						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AAACCAGTTTCCTAGCAATCA	0.403000														204			88		0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092811	151092811	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151092811G>A	uc022cgv.1	+	0	675	c.675G>A	c.(673-675)gaG>gaA	p.E225E	MAGEA4_uc004fez.3_Silent_p.E225E|MAGEA4_uc004ffa.3_Silent_p.E225E|MAGEA4_uc004ffb.3_Silent_p.E225E|MAGEA4_uc022cgu.1_Silent_p.E253E|MAGEA4_uc004ffc.3_Silent_p.E225E|MAGEA4_uc004ffd.3_Silent_p.E225E	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	225	MAGE.						protein binding	p.E225K(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGGGAGGAGCTGGGTGTGA	0.537000														53			56		0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127898505	127898505	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:127898505G>A	uc003qbh.3	+	0	187	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	59						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		GGTATACCTTGAGAGAATGGG	0.438000														63			55		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57865164	57865164	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57865164C>T	uc001snx.3	+	11	2735	c.2641C>T	c.(2641-2643)Ctg>Ttg	p.L881L	GLI1_uc021qzi.1_Silent_p.L840L|GLI1_uc009zpq.3_Silent_p.L753L	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	881					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CAGGCCTTGCCTGGACTTTGA	0.552000														132			17		0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46122066	46122066	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:46122066G>A	uc001jcp.4	-	6	1447	c.1205C>T	c.(1204-1206)gCt>gTt	p.A402V	ZFAND4_uc001jcl.4_5'UTR|ZFAND4_uc001jcm.4_Missense_Mutation_p.A402V|ZFAND4_uc009xmu.3_Missense_Mutation_p.A328V|ZFAND4_uc001jcn.4_Missense_Mutation_p.A328V|ZFAND4_uc001jco.4_Intron	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	402							zinc ion binding										TGCAAATGAAGCCAGTGAGCC	0.433000														103			45		0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9795569	9795569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:9795569G>A	uc001aqh.3	-	12	2598	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F	CLSTN1_uc001aqi.3_Silent_p.F603F|CLSTN1_uc010oag.2_Silent_p.F594F|CLSTN1_uc001aqf.3_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	613					homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGGGCGTGGGGAACTGCCGGG	0.507000														155			44		0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39436236	39436236	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:39436236G>A	uc003gua.3	+	1	1329	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	KLB_uc011byj.2_Missense_Mutation_p.R411Q	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	411	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.P410S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AACAACCCTCGAATCTTGATT	0.428000														111			41		0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103568561	103568562	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:103568561_103568562CT>TC	uc001ymk.3	+	1	577_578	c.501_502CT>TC	c.(499-504)accttt>acTCtt	p.F168L		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	168										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CCTCGCGCACCTTTGAGCAGGA	0.658000														8			5		0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27187241	27187241	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:27187241C>T	uc003syo.2	-	0	153	c.128G>A	c.(127-129)gGg>gAg	p.G43E	HOXA-AS3_uc003syr.2_Intron|HOXA-AS3_uc003syp.2_Intron|HOXA6_uc003syq.1_Intron	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	43						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						ACTCGACGCCCCGTACGAGGC	0.657000														41			19		0	0	1	0	0
TRAF1	7185	broad.mit.edu	37	9	123667431	123667431	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:123667431C>T	uc004bku.2	-	7	1690	c.1118G>A	c.(1117-1119)aGg>aAg	p.R373K	TRAF1_uc011lyg.2_Missense_Mutation_p.R251K|TRAF1_uc010mvl.2_Missense_Mutation_p.R373K	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	373	MATH.				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						ACTCTGGGGCCTCTGGAAGGA	0.587000														24			13		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46989702	46989702	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46989702C>T	uc003oyt.3	-	5	743	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	GPR110_uc011dwl.2_5'UTR|GPR110_uc003oyu.1_Missense_Mutation_p.E182K	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	182	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ACTTGAATTTCAATTCCATTT	0.294000														69			30		0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	280753	280753	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:280753C>T	uc010qvs.2	+	3	1019	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	NLRP6_uc010qvt.2_Missense_Mutation_p.S340F	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	340	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGCCTGTGTTCCCCGCAGTGC	0.687000														41			23		0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124195392	124195392	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:124195392C>T	uc003ypv.3	+	1	2310	c.296C>T	c.(295-297)tCc>tTc	p.S99F	FAM83A_uc003ypw.3_Missense_Mutation_p.S99F|U3_uc022bai.1_5'Flank|FAM83A_uc003ypx.3_Missense_Mutation_p.S99F|FAM83A_uc003ypy.3_Missense_Mutation_p.S99F|FAM83A_uc003ypz.3_Missense_Mutation_p.S99F	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	99										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GACTCCAGCTCCCTACAGTCC	0.662000														103			11		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21750215	21750215	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:21750215G>A	uc003svc.3	+	41	6780	c.6749G>A	c.(6748-6750)cGa>cAa	p.R2250Q		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2250	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCCATTCTACGAGAACAAGCA	0.343000									Kartagener syndrome					37			9		0	0	1	0	0
KIAA1383	54627	broad.mit.edu	37	1	232941806	232941806	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:232941806G>A	uc001hvh.2	+	0	1169	c.1037G>A	c.(1036-1038)gGa>gAa	p.G346E		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	204										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				ACAGGAGGAGGAGCGGAGGTC	0.632000														39			15		0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88534406	88534406	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:88534406A>T	uc003hqu.3	+	3	1188	c.1068A>T	c.(1066-1068)gaA>gaT	p.E356D		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	356					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AACGCGTAGAAAATAGAATCA	0.413000														44			19		0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102900631	102900631	+	Missense_Mutation	SNP	C	T	T	rs150165045		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:102900631C>T	uc001ylw.2	+	8	1703	c.1477C>T	c.(1477-1479)Cct>Tct	p.P493S	TECPR2_uc010awl.3_Missense_Mutation_p.P493S|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	493							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CTCCGAATTTCCTGGGGACAG	0.507000														68			26		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743045	26743045	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:26743045C>T	uc001mra.2	-	0	530	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.4_Missense_Mutation_p.E73K	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	73					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.E73V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CGGTAGACTTCAGAAGGGGTC	0.512000														59			23		0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239016599	239016599	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:239016599G>A	uc002vxq.4	+	3	950	c.840G>A	c.(838-840)gaG>gaA	p.E280E	ESPNL_uc010fyw.3_Silent_p.E20E	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	280										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ACGCAGCAGAGAACGGGCAGA	0.642000														32			9		0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35293219	35293219	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:35293219C>A	uc011kas.2	-	0	493	c.13G>T	c.(13-15)Gcg>Tcg	p.A5S		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	5						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TTGGGGGACGCCGTGAACTCC	0.647000														56			20		0.00047179	0.000472322	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133540263	133540263	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:133540263G>A	uc002ttp.3	-	13	4495	c.4121C>T	c.(4120-4122)cCa>cTa	p.P1374L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1374							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTCAGACTTTGGAGGGATCCT	0.617000														50			24		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153133547	153133547	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:153133547G>A	uc004fjb.3	-	13	1842	c.1734C>T	c.(1732-1734)atC>atT	p.I578I	L1CAM_uc004fjc.3_Silent_p.I578I|L1CAM_uc010nuo.3_Silent_p.I573I	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	578	Ig-like C2-type 6.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGCTGTGGATGACCAGGC	0.597000														33			7		0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94935499	94935499	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:94935499C>T	uc011lgn.2	+	1	1438	c.1389C>T	c.(1387-1389)caC>caT	p.H463H	PDP1_uc003ygf.3_Silent_p.H429H|PDP1_uc003yge.3_Silent_p.H404H|PDP1_uc010max.3_Silent_p.H429H|PDP1_uc011lgm.2_Silent_p.H404H|PDP1_uc022ayg.1_Silent_p.H404H	NM_001161778	NP_001155250	Q9P0J1	PDP1_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	404					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TAACTTACCACCGATTAAGGC	0.458000														107			35		0	0	1	0	0
FAM183B	340286	broad.mit.edu	37	7	38725614	38725614	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:38725614G>A	uc011kbd.2	-	1	979	c.683C>T	c.(682-684)cCc>cTc	p.P228L						Homo sapiens family with sequence similarity 183, member B (FAM183B), non-coding RNA.											endometrium(1)|lung(7)	8						ATAGCCTTGGGGCTGCTCCGT	0.607000														48			4		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178409938	178409938	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178409938G>A	uc003mjr.3	-	8	2588	c.2409C>T	c.(2407-2409)ttC>ttT	p.F803F	GRM6_uc003mjq.3_Silent_p.F206F	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	803					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CAGTGCCAAAGAAGATGGGCA	0.562000														58			34		0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413483	124413483	+	Missense_Mutation	SNP	C	T	T	rs140680123		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124413483C>T	uc010sam.2	-	0	68	c.68G>A	c.(67-69)cGg>cAg	p.R23Q		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R23W(2)|p.R23R(1)		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)		GAGGGGGATCCGCAGTCCCGG	0.547000														135			12		0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587770	36587770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:36587770G>A	uc003aox.3	-	5	631	c.406C>T	c.(406-408)Cac>Tac	p.H136Y	APOL4_uc003aow.3_Missense_Mutation_p.H133Y|APOL4_uc010gww.3_5'UTR	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant b, mRNA.	137					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						CAGCCTCTGTGGACCTTTTCA	0.483000														74			12		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	36943516	36943516	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:36943516G>A	uc002rpl.3	+	1	305	c.3G>A	c.(1-3)atG>atA	p.M1I	VIT_uc002rpk.3_Missense_Mutation_p.M1I|VIT_uc010ynf.2_5'UTR|VIT_uc002rpm.3_Missense_Mutation_p.M1I|VIT_uc010ezv.3_Missense_Mutation_p.M1I|VIT_uc010ezw.3_Missense_Mutation_p.M1I	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	1						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGATATTTATGAGGACTGTTG	0.383000														65			20		0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64643413	64643413	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:64643413C>T	uc001dbj.2	+	8	2088	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F		NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	563	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity	p.E562D(1)		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						TCCATGAGTTCCTCATCATGA	0.488000														70			22		0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52682524	52682524	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:52682524G>A	uc001vge.3	-	7	624	c.484C>T	c.(484-486)Cga>Tga	p.R162*		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	162	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.R219*(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ATACAAGTTCGAGCAAGTTCC	0.333000														65			33		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49446130	49446130	+	Silent	SNP	C	T	T	rs149962060		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:49446130C>T	uc001jgi.3	-	7	1156	c.825G>A	c.(823-825)gcG>gcA	p.A275A	FRMPD2_uc001jgh.3_Silent_p.A244A|FRMPD2_uc001jgj.3_Silent_p.A244A	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	275					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.A275A(2)		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)		GCCTCCGGCCCGCCTGCTGGT	0.577000														61			20		0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78379618	78379618	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:78379618G>A	uc003kft.3	+	6	1008	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	BHMT2_uc011cth.2_Missense_Mutation_p.E253K	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA.	317					methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	ACCAGCTTCAGAAAAACACGG	0.478000														29			18		0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85478726	85478726	+	Missense_Mutation	SNP	G	A	A	rs147369428	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:85478726G>A	uc002blg.3	+	14	1760	c.1558G>A	c.(1558-1560)Ggc>Agc	p.G520S	SLC28A1_uc010bnb.3_Missense_Mutation_p.G520S|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.G520S|SLC28A1_uc010upg.1_Missense_Mutation_p.G520S	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	520					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGTGGGTCGGCGACAGGAA	0.622000														212			24		0	0	1	0	0
WWTR1	25937	broad.mit.edu	37	3	149290715	149290715	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:149290715G>A	uc003exf.3	-	2	844	c.504C>T	c.(502-504)ctC>ctT	p.L168L	WWTR1_uc003exe.3_Silent_p.L168L|WWTR1_uc021xfm.1_Silent_p.L168L|WWTR1_uc003exh.3_Silent_p.L168L	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA.	168					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CGGCAGGGTGGAGGTTCATAT	0.418000			T	CAMTA1	epitheliod hemangioendothelioma									82			39		0	0	1	0	0
KCNIP4	80333	broad.mit.edu	37	4	20734318	20734318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:20734318C>T	uc021xmt.1	-	6	748	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	KCNIP4_uc003gqe.2_Missense_Mutation_p.E193K|KCNIP4_uc003gqf.1_Missense_Mutation_p.E189K|KCNIP4_uc003gqg.1_Missense_Mutation_p.E148K|KCNIP4_uc003gqh.1_Missense_Mutation_p.E185K|KCNIP4_uc003gqi.1_Missense_Mutation_p.E148K|KCNIP4_uc021xmu.1_Missense_Mutation_p.E176K|PACRGL_uc003gpu.3_Intron|KCNIP4_uc021xms.1_Missense_Mutation_p.E173K	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.	210	EF-hand 4.					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)				AAAAATGTTTCAACGTGTTGT	0.363000														47			24		0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5541334	5541334	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:5541334G>A	uc003soo.2	-	2	660	c.566C>T	c.(565-567)cCc>cTc	p.P189L	FBXL18_uc003son.4_Missense_Mutation_p.P189L	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	189									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GGTGCAGCAGGGCACCACGCC	0.662000														15			3		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257668	158257668	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:158257668T>A	uc003ipm.4	+	10	2072	c.1613T>A	c.(1612-1614)tTt>tAt	p.F538Y	GRIA2_uc011cit.2_Missense_Mutation_p.F491Y|GRIA2_uc003ipl.4_Missense_Mutation_p.F538Y|GRIA2_uc003ipk.4_Missense_Mutation_p.F491Y|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	538					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GTGTTTTCCTTTCTTGATCCT	0.448000														232			86		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236191	42236191	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:42236191G>A	uc003ose.2	-	4	1701	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*	TRERF1_uc011duq.1_Nonsense_Mutation_p.Q380*|TRERF1_uc003osb.2_Nonsense_Mutation_p.Q219*|TRERF1_uc003osc.2_Nonsense_Mutation_p.Q219*|TRERF1_uc003osd.2_Nonsense_Mutation_p.Q380*	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	380	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGGGCTCCTGGTAGTAGTAC	0.597000														105			28		0	0	1	0	0
NDUFB7	4713	broad.mit.edu	37	19	14682756	14682756	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:14682756G>A	uc002mzg.3	-	0	134	c.57C>T	c.(55-57)ccC>ccT	p.P19P		NM_004146	NP_004137	P17568	NDUB7_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa (NDUFB7), nuclear gene encoding mitochondrial protein, mRNA.	19					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8					NADH(DB00157)	GCATCTGCAGGGGGTCGGGCT	0.716000														15			4		0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68737434	68737434	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:68737434C>T	uc003jwq.3	+	6	1704	c.1630C>T	c.(1630-1632)Caa>Taa	p.Q544*	MARVELD2_uc010ixf.3_Nonsense_Mutation_p.Q532*|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	544					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		GCAAAGAATTCAAGAATATGA	0.249000														50			16		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44669131	44669131	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44669131G>A	uc010zxl.1	+	6	877	c.801G>A	c.(799-801)gtG>gtA	p.V267V	SLC12A5_uc002xra.2_Silent_p.V244V|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.V244V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	267					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGGCCACTGTGGTGTTTGTGG	0.537000														44			23		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175463	143175463	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143175463G>A	uc003wdc.1	+	0	498	c.498G>A	c.(496-498)ggG>ggA	p.G166G	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	166					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					AATTTTCTGGGAACATGACCT	0.383000														49			17		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85775660	85775660	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:85775660C>T	uc003dql.3	+	0	29	c.29C>T	c.(28-30)tCc>tTc	p.S10F	CADM2_uc003dqj.3_Intron|CADM2_uc003dqk.3_Intron|CADM2_uc003dqm.2_Intron|CADM2_uc021xay.1_Intron|CADM2_uc021xaz.1_Intron|CADM2_uc021xba.1_Intron	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	0					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TGCAACCTTTCCTTGGTACCA	0.348000														144			50		0	0	1	0	0
PNPLA5	150379	broad.mit.edu	37	22	44280179	44280179	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:44280179G>A	uc003beg.3	-	6	1129	c.996C>T	c.(994-996)ttC>ttT	p.F332F	PNPLA5_uc003beh.3_Silent_p.F218F|PNPLA5_uc021wqw.1_Silent_p.F332F|PNPLA5_uc021wqx.1_Silent_p.F218F|PNPLA5_uc011aqc.2_Silent_p.F192F	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.	332					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CCGAGTGCCAGAAGCGGGCCC	0.617000											OREG0026622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		113			10		0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8006979	8006979	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:8006979C>T	uc010qbd.2	+	2	1506	c.1506C>T	c.(1504-1506)ccC>ccT	p.P502P		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	502					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTCCCACTCCCGAACCTCTCC	0.443000														108			46		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34554765	34554765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34554765G>A	uc001bxm.1	-	1	394	c.217C>T	c.(217-219)Ccc>Tcc	p.P73S	CSMD2_uc001bxn.1_Missense_Mutation_p.P33S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	33	CUB 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCCCATTGGGACCGTGCAGT	0.532000														31			14		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830851	13830851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13830851C>T	uc003jfd.2	-	35	5958	c.5916G>A	c.(5914-5916)atG>atA	p.M1972I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1972	AAA 1 (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)					CCCCCATGCTCATTCCCAGAG	0.512000									Kartagener syndrome					74			32		0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8118269	8118269	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:8118269G>A	uc001mga.3	+	5	752	c.603G>A	c.(601-603)gaG>gaA	p.E201E	TUB_uc010rbk.2_Silent_p.E207E|TUB_uc001mfy.3_Silent_p.E256E	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	201	Asp/Glu-rich.				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGGATGAGGAGGATGAGGAGG	0.542000														74			18		0	0	1	0	0
TEX33	339669	broad.mit.edu	37	22	37397962	37397962	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37397962C>T	uc003aqf.3	-	2	551	c.405G>A	c.(403-405)acG>acA	p.T135T	TEX33_uc003aqe.3_Silent_p.T50T	NM_001163857	NP_848647	O43247	EAN57_HUMAN	Homo sapiens chromosome 22 open reading frame 33 (C22orf33), transcript variant 1, mRNA.	135																	CCTTCTGGTTCGTGGGCGTGC	0.622000														25			4		0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3679789	3679789	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3679789G>A	uc001akv.2	+	6	1153	c.1072G>A	c.(1072-1074)Ggt>Agt	p.G358S		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	358	Glu-rich.									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)		TGCCTGGGGAGGTGTGAGCCA	0.672000														5			5		0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14650966	14650966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:14650966C>T	uc001rbw.3	+	14	3930	c.3772C>T	c.(3772-3774)Cct>Tct	p.P1258S	ATF7IP_uc001rbx.3_Missense_Mutation_p.P1257S|ATF7IP_uc001rby.4_Missense_Mutation_p.P1258S|ATF7IP_uc001rca.3_Missense_Mutation_p.P1258S	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	1258	Fibronectin type-III.|Interaction with MBD1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTTCTGTGATCCTCAGTCAAC	0.408000														288			52		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45821719	45821719	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45821719C>T	uc010gpt.1	+	15	2577	c.2477C>T	c.(2476-2478)tCc>tTc	p.S826F	TRPM2_uc002zet.1_Missense_Mutation_p.S826F|TRPM2_uc002zeu.1_Missense_Mutation_p.S826F|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.S826F|TRPM2_uc002zex.1_Missense_Mutation_p.S612F|TRPM2_uc002zey.1_Missense_Mutation_p.S339F	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	826						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCTGTGCCCTCCTGGTGCGAG	0.632000														255			113		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56417688	56417688	+	Missense_Mutation	SNP	G	A	A	rs112177059		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:56417688G>A	uc003pcy.4	-	41	8141	c.8033C>T	c.(8032-8034)tCg>tTg	p.S2678L		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5090					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity	p.S5092L(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGATCCCAGCGAATCATGGAT	0.418000														217			39		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881311	228881311	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228881311G>A	uc002vpq.2	-	6	4306	c.4259C>T	c.(4258-4260)tCa>tTa	p.S1420L	SPHKAP_uc002vpp.2_Missense_Mutation_p.S1420L|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1420L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1420						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGAGCAAAGTGATCGCCTTTT	0.458000														106			52		0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25824819	25824819	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:25824819C>T	uc001bkk.3	+	10	2059	c.1857C>T	c.(1855-1857)gcC>gcT	p.A619A	TMEM57_uc009vru.3_Silent_p.A392A|TMEM57_uc009vrv.3_Silent_p.A261A	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	619						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		p.A619A(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTCATGGCCGTCATGCCCA	0.502000														93			38		0	0	1	0	0
C9orf129	445577	broad.mit.edu	37	9	96097715	96097715	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:96097715G>A	uc010mre.3	-	2	670	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001098808	NP_001092278	Q5T035	CI129_HUMAN	Homo sapiens chromosome 9 open reading frame 129 (C9orf129), mRNA.	102										endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						AAGAGCCAGGGAAGTAGGCGG	0.627000														36			12		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146350703	146350703	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:146350703C>T	uc010khw.1	+	1	520	c.50C>T	c.(49-51)tCc>tTc	p.S17F	GRM1_uc010khu.1_Missense_Mutation_p.S17F|GRM1_uc010khv.1_Missense_Mutation_p.S17F|GRM1_uc003qll.2_Missense_Mutation_p.S17F|GRM1_uc011edz.1_Missense_Mutation_p.S17F|GRM1_uc011eea.1_Missense_Mutation_p.S17F	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	17					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTGGAGGTGTCCCTTCTCCCC	0.602000														114			99		0	0	1	0	0
FAM78B	149297	broad.mit.edu	37	1	166135291	166135292	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:166135291_166135292GG>AA	uc021pef.1	-	0	667_668	c.194_195CC>TT	c.(193-195)acc>aTT	p.T65I	FAM78B_uc010plc.2_Non-coding_Transcript|FAM78B_uc021pee.1_Missense_Mutation_p.P44F	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	Homo sapiens family with sequence similarity 78, member B (FAM78B), mRNA.	65										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CCACCACCCAGGTCTCGTGGCG	0.649000														24			13		0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133175158	133175158	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:133175158G>A	uc002ttl.3	+	0	1012	c.543G>A	c.(541-543)gtG>gtA	p.V181V		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	181						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	p.V181V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCCCCTGGTGAACGTGCCCA	0.617000														62			19		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79092829	79092829	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:79092829C>T	uc002bej.4	-	1	372	c.161G>A	c.(160-162)gGg>gAg	p.G54E	ADAMTS7_uc010und.1_Missense_Mutation_p.G54E|ADAMTS7_uc002bek.1_Missense_Mutation_p.G54E	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	54					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GAAGGAGCCCCCCGCGTCGAC	0.672000														12			6		0	0	1	0	0
P2RX7	5027	broad.mit.edu	37	12	121593886	121593887	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:121593886_121593887AC>TT	uc001tzm.3	+	2	451_452	c.299_300AC>TT	c.(298-300)aac>aTT	p.N100I	P2RX7_uc001tzn.3_Missense_Mutation_p.N10I|P2RX7_uc001tzo.3_Non-coding_Transcript|P2RX7_uc001tzp.3_5'UTR|P2RX7_uc001tzq.3_5'UTR	NM_002562	NP_002553	A8K2Z0	A8K2Z0_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA.	100						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCACAGGGGAACTCTTTCTTCG	0.470000														95			39		0	0	1	0	0
ANO8	57719	broad.mit.edu	37	19	17442179	17442179	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17442179G>A	uc002ngf.2	-	5	787	c.628C>T	c.(628-630)Cct>Tct	p.P210S	ANO8_uc010eap.2_Non-coding_Transcript	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	210						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TCGTGGACAGGGAACACCTGC	0.637000														75			17		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20668326	20668326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:20668326G>A	uc010kuh.3	+	3	361	c.124G>A	c.(124-126)Gga>Aga	p.G42R		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	695	ABC transporter 1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.R41*(1)		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						CTTTGCTGATGGACTGGACAT	0.463000														36			7		0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118867030	118867030	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:118867030G>A	uc003ecb.1	+	1	1442	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.E468K	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	468										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ATTTCAGGATGAATTTTCAGA	0.363000														123			45		0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98288972	98288972	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:98288972C>T	uc003yhy.3	-	0	1205	c.1101G>A	c.(1099-1101)gaG>gaA	p.E367E		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	367					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CGTTGATTATCTCCACAATCT	0.463000														207			57		0	0	1	0	0
FABP2	2169	broad.mit.edu	37	4	120240735	120240735	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:120240735C>T	uc003icw.3	-	2	363	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K		NM_000134	NP_000125	P12104	FABPI_HUMAN	Homo sapiens fatty acid binding protein 2, intestinal (FABP2), mRNA.	102							fatty acid binding	p.E102K(2)|p.N101N(1)		breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						GTATTCAGTTCGTTTCCATTG	0.308000														53			23		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30926323	30926323	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:30926323G>A	uc010xbr.1	-	7	652	c.510C>T	c.(508-510)gcC>gcT	p.A170A	C18orf34_uc002kxn.2_Silent_p.A170A|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Silent_p.A170A|C18orf34_uc002kxp.3_Silent_p.A170A	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	170										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						TGAGACGAATGGCCTCTGAGA	0.338000														91			34		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582174	82582174	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82582174G>A	uc003uhx.2	-	4	8384	c.8095C>T	c.(8095-8097)Cct>Tct	p.P2699S	PCLO_uc003uhv.2_Missense_Mutation_p.P2699S|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2630					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						GGCTCTGGAGGAATTGTTATG	0.403000														44			17		0	0	1	0	0
CLEC2L	154790	broad.mit.edu	37	7	139225185	139225185	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:139225185C>T	uc010lnd.3	+	2	384	c.384C>T	c.(382-384)tgC>tgT	p.C128C		NM_001080511	NP_001073980	P0C7M8	CLC2L_HUMAN	Homo sapiens C-type lectin domain family 2, member L (CLEC2L), mRNA.	128	C-type lectin.					integral to membrane	sugar binding			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					GGCAGTACTGCCACACCCACG	0.622000														6			10		0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613922	14613922	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:14613922C>T	uc001rbw.3	+	8	2810	c.2652C>T	c.(2650-2652)gcC>gcT	p.A884A	ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.3_Silent_p.A884A|ATF7IP_uc001rbv.1_Silent_p.A883A|ATF7IP_uc001rbx.3_Silent_p.A883A|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.4_Silent_p.A884A|ATF7IP_uc001rca.3_Silent_p.A884A	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	884					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTGTACAAGCCACAAGGACTT	0.458000														32			7		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18554486	18554486	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:18554486G>A	uc001bau.2	+	1	548	c.165G>A	c.(163-165)cgG>cgA	p.R55R		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	55	Ig-like 1.					extracellular region		p.R55W(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GGCGCATGCGGGAGATCGTGT	0.582000														66			35		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21552453	21552454	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:21552453_21552454GG>AA	uc003cce.3	-	3	746_747	c.338_339CC>TT	c.(337-339)gcc>gTT	p.A113V	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	113						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TATTTTTCATGGCTTCCAGTGC	0.465000														77			29		0	0	1	0	0
KHSRP	8570	broad.mit.edu	37	19	6421694	6421694	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6421694G>A	uc002mer.4	-	2	462	c.352C>T	c.(352-354)Ccg>Tcg	p.P118S		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA.	118	Gly-rich.				RNA splicing, via transesterification reactions|mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TTGCTCTCCGGTTGATCTGGG	0.582000														109			32		0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43668391	43668391	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43668391C>T	uc001zro.3	+	1	414	c.174C>T	c.(172-174)ttC>ttT	p.F58F	TUBGCP4_uc001zrn.3_Silent_p.F58F|TUBGCP4_uc010bdh.3_5'Flank	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	58					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	p.F58L(2)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TCACTGAGTTCATTGAACAGT	0.542000											OREG0023088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		89			43		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38950520	38950520	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38950520C>T	uc021wvy.1	-	8	1466	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	423					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGCTGGGCTTCCTGAAACATC	0.512000														174			60		0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242151616	242151616	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242151616G>A	uc002wax.2	+	15	1934	c.1831G>A	c.(1831-1833)Ggc>Agc	p.G611S		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	611						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTTCTTCAAGGGCAGGTTGGT	0.582000														60			20		0	0	1	0	0
ZNF558	148156	broad.mit.edu	37	19	8931968	8931968	+	Silent	SNP	G	A	A	rs143685735	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8931968G>A	uc002mkn.1	-	2	365	c.135C>T	c.(133-135)ttC>ttT	p.F45F	ZNF558_uc010xkh.1_5'UTR|ZNF558_uc010dwg.1_Silent_p.F45F	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CCACATCCTCGAAGGTTACCA	0.587000														97			53		0	0	1	0	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086676	46086676	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46086676G>A	uc002zfu.3	-	0	169	c.128C>T	c.(127-129)tCc>tTc	p.S43F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	Homo sapiens keratin associated protein 12-2 (KRTAP12-2), mRNA.	43	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						CACACACACGGAGGACTGGCA	0.657000														45			15		0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129321287	129321287	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:129321287C>T	uc001qfc.4	+	3	880	c.830C>T	c.(829-831)cCa>cTa	p.P277L		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	277										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GAACCCCCACCATTAAGCTAA	0.542000														65			25		0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44843419	44843419	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:44843419C>T	uc003cnx.4	+	12	1611	c.1462C>T	c.(1462-1464)Cgt>Tgt	p.R488C	KIF15_uc010hiq.3_Missense_Mutation_p.R391C|KIF15_uc003cny.1_Missense_Mutation_p.R123C	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	488					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GGAGCAGGATCGTTTGCTCTC	0.378000														34			13		0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53679563	53679563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:53679563G>A	uc002ehp.3	-	16	2721	c.2657C>T	c.(2656-2658)tCg>tTg	p.S886L	RPGRIP1L_uc002eho.4_Missense_Mutation_p.S886L|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.S886L|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.S886L|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.S886L	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	886					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATGTGCCAACGAAATCAGAGG	0.328000														40			15		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110478892	110478892	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110478892C>T	uc003yne.3	+	49	8603	c.8499C>T	c.(8497-8499)ttC>ttT	p.F2833F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2833					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S2832N(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)			GCATTGGGTTCCCTGGATCAG	0.478000										HNSCC(38;0.096)				15			6		0	0	1	0	0
APOBEC1	339	broad.mit.edu	37	12	7805044	7805044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7805044C>T	uc001qtb.3	-	2	466	c.432G>A	c.(430-432)atG>atA	p.M144I	APOBEC1_uc001qtc.3_Missense_Mutation_p.M99I	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	144					DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	RNA binding|cytidine deaminase activity|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTGATGCTCTCATAATCTGAA	0.418000														54			12		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49812809	49812809	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:49812809C>T	uc001jgu.3	-	1	331	c.34_splice	c.e1+1	p.A12_splice	ARHGAP22_uc001jgt.3_Splice_Site_p.A12_splice|ARHGAP22_uc010qgl.2_Splice_Site_p.A12_splice|ARHGAP22_uc010qgm.2_Intron|ARHGAP22_uc001jgv.3_Intron	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	12					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGACTTACCCCTCCTGGCCT	0.612000														77			19		0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214178524	214178524	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:214178524C>T	uc001hkh.3	+	2	2014	c.1742C>T	c.(1741-1743)tCa>tTa	p.S581L		NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	581					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAAGGATTGTCACCCAATCAC	0.463000														64			24		0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71690162	71690162	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:71690162C>T	uc001jql.3	+	28	2040	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C	COL13A1_uc021prz.1_Missense_Mutation_p.R480C|COL13A1_uc021psa.1_Missense_Mutation_p.R445C|COL13A1_uc021psb.1_Missense_Mutation_p.R451C|COL13A1_uc001jqk.2_Missense_Mutation_p.R480C|COL13A1_uc021psc.1_Missense_Mutation_p.R483C|COL13A1_uc021psd.1_Missense_Mutation_p.R480C|COL13A1_uc010qjf.2_Missense_Mutation_p.R445C|COL13A1_uc021pse.1_Missense_Mutation_p.R451C|COL13A1_uc021psf.1_Missense_Mutation_p.R502C|COL13A1_uc021psg.1_Missense_Mutation_p.R480C|COL13A1_uc021psh.1_Missense_Mutation_p.R483C	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	502	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AAAGGGACCTCGCGGTAAACC	0.537000														25			11		0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44626787	44626787	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:44626787G>A	uc021xnx.1	-	4	528	c.511C>T	c.(511-513)Cag>Tag	p.Q171*		NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA.	171						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						TAACCAAACTGAACTTTTCCT	0.468000														15			6		0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70818641	70818641	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:70818641C>T	uc003kbp.1	+	23	5515	c.5252C>T	c.(5251-5253)tCc>tTc	p.S1751F	BDP1_uc003kbo.3_Missense_Mutation_p.S1751F|BDP1_uc003kbq.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1751					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGTGTAGGTTCCAAAGAGTCT	0.378000														74			26		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50217819	50217819	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:50217819G>A	uc002xwg.1	-	27	3075	c.3075C>T	c.(3073-3075)ctC>ctT	p.L1025L	ATP9A_uc010gih.1_Silent_p.L889L|ATP9A_uc002xwf.1_Silent_p.L197L	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	1025					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CATAGAGGGGGAGGCAGCTGA	0.567000														35			18		0	0	1	0	0
SEC1	653677	broad.mit.edu	37	19	49183691	49183691	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49183691G>A	uc010xzv.2	+	4	838	c.711G>A	c.(709-711)ccG>ccA	p.P237P	SEC1_uc002pka.3_Silent_p.P197P|SEC1_uc010xzw.2_Silent_p.P154P|SEC1_uc010ema.3_Silent_p.P143P					Homo sapiens secretory blood group 1 (SEC1), non-coding RNA.																		GCCACATCCCGGGGCGCTGTG	0.657000														31			18		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28436193	28436193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:28436193G>A	uc001zbj.3	-	54	8673	c.8567C>T	c.(8566-8568)tCc>tTc	p.S2856F	HERC2_uc001zbk.1_Missense_Mutation_p.S391F	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2856	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTTATTCAGGGAATTTCCACC	0.368000														45			11		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37774261	37774261	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:37774261G>A	uc003chd.3	+	18	2179	c.2126G>A	c.(2125-2127)gGa>gAa	p.G709E		NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	709					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TGCAGCGTGGGATTTCCTTTC	0.562000														17			3		0	0	1	0	0
PNPLA5	150379	broad.mit.edu	37	22	44277460	44277460	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:44277460C>T	uc003beg.3	-	7	1310	c.1177G>A	c.(1177-1179)Gcc>Acc	p.A393T	PNPLA5_uc003beh.3_Missense_Mutation_p.A279T|PNPLA5_uc021wqw.1_Missense_Mutation_p.A393T|PNPLA5_uc021wqx.1_Missense_Mutation_p.A279T|PNPLA5_uc011aqc.2_Missense_Mutation_p.A253T	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.	393					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGGAGCTGGGCCTTGGTCCTG	0.662000														8			3		0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139548	3139548	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3139548C>T	uc002ctv.1	-	4	1810	c.1722G>A	c.(1720-1722)acG>acA	p.T574T	ZSCAN10_uc002cty.1_Silent_p.T235T|ZSCAN10_uc002ctw.1_Silent_p.T492T|ZSCAN10_uc002ctx.1_Silent_p.T502T	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	574					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GCTTCTCGCCCGTGTGGCTGC	0.711000														10			3		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198713186	198713186	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:198713186C>T	uc001gur.1	+	25	2875	c.2695C>T	c.(2695-2697)Cag>Tag	p.Q899*	PTPRC_uc001gut.1_Nonsense_Mutation_p.Q738*	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	899	Tyrosine-protein phosphatase 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATTGTAGGCCCAGTACATCTT	0.328000														41			10		0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154687474	154687474	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154687474C>T	uc021pah.1	-	6	2066	c.1752G>A	c.(1750-1752)aaG>aaA	p.K584K	KCNN3_uc001ffo.3_Silent_p.K264K|KCNN3_uc001ffp.3_Silent_p.K569K	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	574	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CTGCAGCATTCTTGATCTAAG	0.393000														99			29		0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146807044	146807044	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:146807044G>A	uc003ikn.3	-	3	1581	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	ZNF827_uc003ikm.3_Silent_p.S511S|ZNF827_uc010iox.3_Silent_p.S161S	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CCCCTCCCTGGCTAGTCCTCT	0.602000														54			22		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155724215	155724215	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155724215G>A	uc001flz.2	-	27	5679	c.5582C>T	c.(5581-5583)tCc>tTc	p.S1861F	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Intron|GON4L_uc001fly.1_Missense_Mutation_p.S1861F|GON4L_uc009wrh.1_Missense_Mutation_p.S1861F|GON4L_uc001fma.1_Missense_Mutation_p.S1861F|GON4L_uc001fmb.4_Missense_Mutation_p.S1057F	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1861					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTTCAGCTTGGAATCTGGACC	0.542000														178			21		0	0	1	0	0
OOEP	441161	broad.mit.edu	37	6	74079371	74079371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:74079371G>A	uc003pgu.4	-	0	145	c.145C>T	c.(145-147)Cct>Tct	p.P49S	OOEP_uc003pgv.4_Intron	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	Homo sapiens oocyte expressed protein homolog (dog) (OOEP), mRNA.	49	KH; atypical.					cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						AACACCAAAGGGTCTCTCAGT	0.612000														103			14		0	0	1	0	0
CIRH1A	84916	broad.mit.edu	37	16	69184802	69184802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:69184802C>T	uc002ews.4	+	7	1093	c.997C>T	c.(997-999)Ccc>Tcc	p.P333S	CIRH1A_uc002ewr.2_Missense_Mutation_p.P333S|CIRH1A_uc002ewt.4_Missense_Mutation_p.P250S|CIRH1A_uc010cfi.3_Missense_Mutation_p.P250S|CIRH1A_uc010cfj.1_Missense_Mutation_p.P152S	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.	333						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		AATCACCTTTCCCCACGTAAG	0.542000														61			18		0	0	1	0	0
C2orf51	200523	broad.mit.edu	37	2	88828854	88828854	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:88828854C>T	uc002stb.2	+	3	547	c.405C>T	c.(403-405)ctC>ctT	p.L135L		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	Homo sapiens chromosome 2 open reading frame 51 (C2orf51), mRNA.	135						nucleus				large_intestine(2)|lung(11)|prostate(1)|skin(1)	15						TTCCGTGCCTCGTGGATCCCA	0.572000														62			29		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21992264	21992265	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21992264_21992265CC>TT	uc001wbe.3	-	1	1879_1880	c.1597_1598GG>AA	c.(1597-1599)ggc>AAc	p.G533N	SALL2_uc010tly.2_Missense_Mutation_p.G531N|SALL2_uc010tlz.1_Missense_Mutation_p.G396N|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.G398N|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	533							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GATGGCTGAGCCCTCACTCCCT	0.520000														66			7		0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53340208	53340208	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:53340208C>T	uc002ehb.3	+	30	6843	c.6679C>T	c.(6679-6681)Cag>Tag	p.Q2227*	CHD9_uc002egy.3_Nonsense_Mutation_p.Q2227*|CHD9_uc002ehc.3_Nonsense_Mutation_p.Q2228*|CHD9_uc002ehf.3_Nonsense_Mutation_p.Q1341*|CHD9_uc002ehg.2_Nonsense_Mutation_p.Q1342*|CHD9_uc010cbw.3_Nonsense_Mutation_p.Q293*	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2227					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAGCACTACCCAGGATGAGAC	0.398000														48			25		0	0	1	0	0
KLF14	136259	broad.mit.edu	37	7	130418345	130418345	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:130418345C>T	uc003vqk.2	-	0	544	c.516G>A	c.(514-516)ggG>ggA	p.G172G		NM_138693	NP_619638	Q8TD94	KLF14_HUMAN	Homo sapiens Kruppel-like factor 14 (KLF14), mRNA.	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					CGGGGCCTGCCCCTAGGGCCC	0.741000														13			3		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167020477	167020477	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:167020477C>T	uc003irh.2	+	19	3352	c.2705C>T	c.(2704-2706)tCa>tTa	p.S902L	TLL1_uc011cjn.2_Missense_Mutation_p.S925L|TLL1_uc011cjo.2_Missense_Mutation_p.S726L	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	902	CUB 5.				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)		GATCTGTACTCACATGCTCAG	0.443000														145			70		0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7254553	7254553	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7254553G>A	uc001qsn.3	-	2	524	c.431C>T	c.(430-432)tCc>tTc	p.S144F	C1RL_uc009zft.3_Missense_Mutation_p.S144F|C1RL_uc001qso.2_Missense_Mutation_p.S144F	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	144	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTTCTCCGAGGAAGGCTGTGT	0.622000														108			37		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102712909	102712909	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102712909C>T	uc001phj.1	-	3	666	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	201					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GTCCATTGTTCATCATCATCA	0.393000														60			29		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76900491	76900491	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:76900491C>T	uc001oyb.2	+	27	3878	c.3606C>T	c.(3604-3606)ttC>ttT	p.F1202F	MYO7A_uc010rsm.1_Silent_p.F1191F|MYO7A_uc001oyc.2_Silent_p.F1202F|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.F413F	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1202	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						TGGGCTGTTTCGCCCCCTCCG	0.607000														79			32		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129070689	129070689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:129070689G>A	uc003kvb.1	+	21	3359	c.3359G>A	c.(3358-3360)gGa>gAa	p.G1120E	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.	1120	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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)		AAGATCACAGGAAGACATGGA	0.388000														77			25		0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976080	4976080	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4976080C>T	uc010qyt.2	-	0	864	c.864G>A	c.(862-864)atG>atA	p.M288I		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	288			M -> T (in dbSNP:rs2442426).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)		CAATTGGTTTCATCAGCGGAG	0.418000														64			38		0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151597688	151597688	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151597688G>A	uc003ezf.2	+	1	113	c.8G>A	c.(7-9)gGg>gAg	p.G3E		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	3						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GACATGCTGGGGATCATGGTA	0.343000														67			16		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294911	5294911	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:5294911G>A	uc010zqw.2	-	0	113	c.105C>T	c.(103-105)ctC>ctT	p.L35L	PROKR2_uc010zqx.2_Silent_p.L35L|PROKR2_uc010zqy.2_Silent_p.L35L|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	35						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CATCCATAGGGAGGTCATAAT	0.517000										HNSCC(71;0.22)				91			16		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135441522	135441522	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:135441522G>A	uc004ezu.1	+	10	7343	c.7052G>A	c.(7051-7053)aGt>aAt	p.S2351N	GPR112_uc010nsb.1_Missense_Mutation_p.S2146N|GPR112_uc010nsc.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2351					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.K2350R(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAAATCAAAAGTAAAATACAT	0.338000														41			73		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275978	152275978	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152275978C>T	uc001ezu.1	-	2	11420	c.11384G>A	c.(11383-11385)gGa>gAa	p.G3795E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3795	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G3795*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCAGACCTTCCCTGGGATGT	0.577000									Ichthyosis					490			195		0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477672	88477672	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:88477672G>A	uc021rxh.1	+	0	481	c.481G>A	c.(481-483)Gat>Aat	p.D161N	GPR65_uc001xvv.3_Missense_Mutation_p.D161N	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	161					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	p.D161N(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TGAATATTGCGATGCCGAAAA	0.393000														146			42		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834534	101834534	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:101834534G>A	uc003knn.3	-	0	187	c.15C>T	c.(13-15)gtC>gtT	p.V5V	SLCO6A1_uc003kno.3_Silent_p.V5V|SLCO6A1_uc003knp.3_Silent_p.V5V|SLCO6A1_uc003knq.3_Silent_p.V5V	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	5						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGTGCCGGGCGACGCCTACGA	0.706000														193			29		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152521994	152521994	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152521994C>T	uc021vrb.1	-	39	5120	c.5091G>A	c.(5089-5091)gaG>gaA	p.E1697E	NEB_uc002txu.3_Silent_p.E1697E|NEB_uc021vrc.1_Silent_p.E1697E|NEB_uc010fnx.3_Silent_p.E1697E|NEB_uc021vrd.1_Silent_p.E1697E	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1697					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTCCAGGGACTCTATGGGCA	0.448000														14			7		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79983001	79983001	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:79983001C>T	uc004akr.3	+	61	8762	c.8502C>T	c.(8500-8502)ttC>ttT	p.F2834F	VPS13A_uc004akp.4_Silent_p.F2834F|VPS13A_uc004akq.4_Silent_p.F2834F|VPS13A_uc004aks.3_Silent_p.F2795F	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2834					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACTATCAGTTCCATACAACAT	0.328000														29			6		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520004	131520004	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:131520004C>T	uc021voy.1	+	0	359	c.359C>T	c.(358-360)tCc>tTc	p.S120F	FAM123C_uc002trw.2_Missense_Mutation_p.S120F|FAM123C_uc010fmv.2_Missense_Mutation_p.S120F|FAM123C_uc010fms.1_Missense_Mutation_p.S120F|FAM123C_uc010fmt.1_Missense_Mutation_p.S120F|FAM123C_uc010fmu.1_Missense_Mutation_p.S120F	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	120										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		TTCCCGGGCTCCCCGGGCAGC	0.642000														23			12		0	0	1	0	0
CST9	128822	broad.mit.edu	37	20	23584308	23584308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:23584308C>T	uc002wtl.3	-	1	428	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_001008693	NP_001008693	Q5W186	CST9_HUMAN	Homo sapiens cystatin 9 (testatin) (CST9), mRNA.	107						extracellular region	cysteine-type endopeptidase inhibitor activity	p.F106L(1)		central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					ATGTCATCTTCAAATTTCCTA	0.473000														221			15		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305292	54305292	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54305292G>A	uc021smr.1	+	0	192	c.192G>A	c.(190-192)aaG>aaA	p.K64K	UNC13C_uc021sms.1_Silent_p.K64K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	64					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)		GCACTGTAAAGAAGATTGCAA	0.423000														56			12		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117243663	117243663	+	Missense_Mutation	SNP	C	T	T	rs121909034	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:117243663C>T	uc003vjd.3	+	16	2867	c.2735C>T	c.(2734-2736)tCg>tTg	p.S912L	CFTR_uc011knq.2_Missense_Mutation_p.S318L	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	912	ABC transmembrane type-1 2.		S -> L.		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AGCACCAGTTCGTATTATGTG	0.418000									Cystic Fibrosis					109			9		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17488851	17488851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17488851C>T	uc002zlw.3	-	0	262	c.154G>A	c.(154-156)Gag>Aag	p.E52K	GAB4_uc010gqs.1_Missense_Mutation_p.E52K	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	52	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AGCTTCTTCTCGGGGGGCGAC	0.687000														14			6		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337321	19337321	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19337321G>A	uc002nlz.3	+	6	1198	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N	NCAN_uc010ecc.1_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	367					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ACAACATGGAGACCTAGAGAC	0.577000														91			13		0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974783	49974783	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:49974783C>T	uc010rhz.2	+	0	841	c.809C>T	c.(808-810)gCt>gTt	p.A270V		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AAAGCAGTTGCTGTATTCTAC	0.378000														91			26		0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76980019	76980019	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:76980019C>T	uc001oyf.3	-	7	825	c.574G>A	c.(574-576)Gag>Aag	p.E192K		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	192					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CCCAAATTCTCCTTCTCCTGA	0.453000														126			42		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588113	204588113	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204588113C>T	uc021phy.1	-	0	1008	c.1008G>A	c.(1006-1008)caG>caA	p.Q336Q	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Silent_p.Q336Q|LRRN2_uc001hbf.1_Silent_p.Q336Q|LRRN2_uc009xbf.1_Silent_p.Q336Q|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	336					cell adhesion	integral to membrane	receptor activity	p.Q336K(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGGTCTCCATCTGGGGCAGGT	0.612000														26			6		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10645331	10645331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:10645331C>T	uc010rcc.1	-	9	1827	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	MRVI1_uc010rcb.1_Missense_Mutation_p.E473K|MRVI1_uc001miw.2_Missense_Mutation_p.E472K|MRVI1_uc001mix.3_Missense_Mutation_p.E166K|MRVI1_uc001miz.2_Missense_Mutation_p.E390K|MRVI1_uc010rcd.1_Missense_Mutation_p.E275K|MRVI1_uc009ygd.1_Missense_Mutation_p.E166K|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	454					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTACCTTTTTCCTGCTCAGCT	0.468000														72			19		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22191364	22191364	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22191364G>A	uc009vqd.3	-	35	4641	c.4601C>T	c.(4600-4602)cCg>cTg	p.P1534L	HSPG2_uc001bfj.3_Missense_Mutation_p.P1533L	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1533	Laminin EGF-like 9; second part.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTAGCCTGGCGGGCAGCGGCA	0.687000														22			4		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381070	147381070	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:147381070G>A	uc021ovm.1	+	0	988	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	GJA8_uc001epu.2_Missense_Mutation_p.E330K	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	330					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGGGGCACAAGAAGTGGAGGG	0.617000														17			3		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306412	54306412	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54306412G>A	uc021smr.1	+	0	1312	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	UNC13C_uc021sms.1_Missense_Mutation_p.E438K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	438					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)		GTCTACTCCAGAGCCAAAAAT	0.408000														71			39		0	0	1	0	0
ZNF358	140467	broad.mit.edu	37	19	7584262	7584262	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7584262C>T	uc002mgn.2	+	1	304	c.134C>T	c.(133-135)cCt>cTt	p.P45L	ZNF358_uc021unu.1_Missense_Mutation_p.P45L	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	45					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GACCCAGAGCCTGATCCTGAA	0.582000														73			36		0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71576875	71576875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71576875C>T	uc002shx.3	+	1	1114	c.791C>T	c.(790-792)cCt>cTt	p.P264L	ZNF638_uc010fec.2_Missense_Mutation_p.P370L|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.P264L|ZNF638_uc002shz.3_Missense_Mutation_p.P264L|ZNF638_uc002shy.3_Missense_Mutation_p.P264L|ZNF638_uc002sia.3_Missense_Mutation_p.P264L|ZNF638_uc002sib.1_Missense_Mutation_p.P264L	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	264					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTATGTTTCCTGTTGAAGAC	0.428000														147			58		0	0	1	0	0
AK124970	0	broad.mit.edu	37	1	224190263	224190263	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:224190263C>T	uc001hog.1	+	0		c.655C>T								Homo sapiens cDNA FLJ42980 fis, clone BRTHA2006735.																		AGGTGGTGTTCAGTTGCTGCT	0.378000														117			35		0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90427414	90427414	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:90427414C>T	uc001kfg.2	+	2	308	c.194C>T	c.(193-195)cCt>cTt	p.P65L	LIPF_uc009xtk.3_Missense_Mutation_p.P65L|LIPF_uc001kfh.2_Missense_Mutation_p.P75L|LIPF_uc010qmt.2_Missense_Mutation_p.P75L|LIPF_uc010qmu.2_Missense_Mutation_p.P65L	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	65					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		AATAGAATTCCTTATGGGAAG	0.353000														133			26		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179441006	179441006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179441006C>T	uc021vsy.1	-	274	62374	c.62149G>A	c.(62149-62151)Gag>Aag	p.E20717K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E14412K|TTN_uc021vta.1_Missense_Mutation_p.E14345K|TTN_uc021vtb.1_Missense_Mutation_p.E14220K|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21644	Fibronectin type-III 50.						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)			ATCCAGGCCTCGTCTCCTACT	0.443000														42			25		0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141295889	141295889	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:141295889C>T	uc010huq.1	+	14	1531	c.1531C>T	c.(1531-1533)Cgt>Tgt	p.R511C	RASA2_uc003etz.1_Missense_Mutation_p.R511C|RASA2_uc003eua.1_Missense_Mutation_p.R511C|RASA2_uc011bnc.1_Missense_Mutation_p.R103C	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	511	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding	p.L510I(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TGTATTTCTTCGTTTCTTTGC	0.358000														136			53		0	0	1	0	0
TST	7263	broad.mit.edu	37	22	37407121	37407121	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37407121G>A	uc003aqg.3	-	1	1536	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	TST_uc003aqh.3_Missense_Mutation_p.R281C	NM_003312	NP_003303	Q16762	THTR_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese) (TST), nuclear gene encoding mitochondrial protein, mRNA.	281	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GGGGCCCGGCGAAACCACTCG	0.642000														93			46		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156747679	156747679	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156747679C>T	uc021ygm.1	+	14	1675	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	CYFIP2_uc011ddn.2_Nonsense_Mutation_p.R488*|CYFIP2_uc011ddo.2_Nonsense_Mutation_p.R318*|CYFIP2_uc021ygn.1_Nonsense_Mutation_p.R513*|CYFIP2_uc021ygo.1_Nonsense_Mutation_p.R513*|CYFIP2_uc003lwt.3_Nonsense_Mutation_p.R392*|CYFIP2_uc011ddp.2_Nonsense_Mutation_p.R248*	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	514					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGGCAATTCGAAAGACCAT	0.532000														46			24		0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058019	56058019	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56058019G>A	uc010rje.2	-	0	520	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AAAAAGTGACGAACTACATTT	0.438000														77			30		0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995648	57995648	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57995648G>A	uc010rkd.2	-	0	743	c.700C>T	c.(700-702)Cgt>Tgt	p.R234C		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TCGGCAGAACGGATGCTCAGG	0.627000														47			20		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45132974	45132974	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:45132974G>A	uc003com.3	-	6	1819	c.1684C>T	c.(1684-1686)Ccc>Tcc	p.P562S		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	562						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCCCAGTTGGGGGTCCTCAGG	0.572000														15			6		0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207196053	207196053	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207196053C>T	uc001hfd.2	-	3	1315	c.1056G>A	c.(1054-1056)gaG>gaA	p.E352E	C1orf116_uc009xcb.1_Silent_p.E106E|C1orf116_uc021pii.1_Silent_p.E106E	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	352						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GCCCCAGCTTCTCTAGAGCTT	0.572000														89			13		0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52714601	52714601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52714601C>T	uc002pyp.3	+	3	654	c.359C>T	c.(358-360)tCg>tTg	p.S120L	PPP2R1A_uc010ydk.2_Missense_Mutation_p.S65L|PPP2R1A_uc010epm.1_Missense_Mutation_p.S160L|PPP2R1A_uc002pyq.3_5'UTR	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	120	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.S120L(2)|p.S120S(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CACGAGCACTCGCCCTCTGAC	0.662000			Mis		clear cell ovarian carcinoma									89			10		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51984482	51984482	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51984482G>A	uc002abh.3	+	6	1220	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	SCG3_uc010ufz.2_Missense_Mutation_p.E41K	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	273				EEL -> RDF (in Ref. 1; AAD44483).	platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		CAACTTTGAGGAACTCCAATA	0.383000														89			53		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47344548	47344548	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:47344548G>A	uc003tnw.3	-	20	3062	c.2704C>T	c.(2704-2706)Ccc>Tcc	p.P902S	TNS3_uc022acn.1_Missense_Mutation_p.P459S	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	902						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGTCCGATGGGGCTCTCTGAC	0.597000														38			14		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140423	56140423	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:56140423G>A	uc002xyn.4	+	9	1595	c.1432G>A	c.(1432-1434)Gac>Aac	p.D478N	PCK1_uc010zzm.2_Missense_Mutation_p.D161N	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	478					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CATCATGCATGACCCCTTTGC	0.502000														80			35		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6697558	6697558	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6697558C>T	uc002mfm.3	-	20	2655	c.2593G>A	c.(2593-2595)Gaa>Aaa	p.E865K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	865					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGGAGTAGTTCCACCCTCACC	0.612000														37			9		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120568516	120568516	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:120568516G>A	uc001txo.3	-	55	7618	c.7605C>T	c.(7603-7605)ctC>ctT	p.L2535L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2535					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGTCTCATGAGAAAGCCCA	0.607000														66			6		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553072	140553072	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140553072C>T	uc003lit.3	+	0	830	c.656C>T	c.(655-657)tCt>tTt	p.S219F		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	219	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G218S(1)|p.G218C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGGCGGCTCTCCTCCAAGA	0.547000														68			20		0	0	1	0	0
MYL9	10398	broad.mit.edu	37	20	35177519	35177519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:35177519C>T	uc002xfl.1	+	3	480	c.386C>T	c.(385-387)aCc>aTc	p.T129I	BC039668_uc002xfk.3_Intron|MYL9_uc002xfm.1_Missense_Mutation_p.T75I	NM_006097	NP_006088	P24844	MYL9_HUMAN	Homo sapiens myosin, light chain 9, regulatory (MYL9), transcript variant 1, mRNA.	129	EF-hand 2.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CTGCTCACCACCATGGGTGAC	0.582000														60			23		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76732370	76732370	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:76732370C>T	uc001jwn.1	+	6	1527	c.1034C>T	c.(1033-1035)cCg>cTg	p.P345L	KAT6B_uc001jwm.1_Missense_Mutation_p.P345L|KAT6B_uc001jwo.1_Missense_Mutation_p.P345L|KAT6B_uc001jwp.1_Missense_Mutation_p.P345L	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	345					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										ATTGGACGACCGAAAAATAAA	0.338000														158			53		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27672907	27672907	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27672907C>A	uc002rku.3	-	35	4059	c.4008G>T	c.(4006-4008)ctG>ctT	p.L1336L	IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1336					cilium assembly	cilium	binding	p.V1335I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GTCCTACAGCCAGAACGACTT	0.473000														55			18		3.41278e-10	3.42473e-10	1	1	0
TSPEAR	54084	broad.mit.edu	37	21	45947202	45947202	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45947202G>A	uc002zfe.1	-	6	1188	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A	TSPEAR_uc010gpv.1_Silent_p.A306A	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	374					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AATGCCTCCAGGCCTGTGCTT	0.562000														96			16		0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142681068	142681068	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:142681068A>G	uc003evg.3	-	0	1111	c.1111T>C	c.(1111-1113)Tcc>Ccc	p.S371P	PAQR9_uc003evf.1_Non-coding_Transcript	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	Homo sapiens progestin and adipoQ receptor family member IX (PAQR9), mRNA.	371						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CAGAATTCGGAGCTGTTTAGG	0.537000														126			39		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122809232	122809232	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:122809232C>T	uc003vkm.3	-	3	548	c.523G>A	c.(523-525)Gga>Aga	p.G175R	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	175						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTGGTTGATCCGTTGAAGTAA	0.473000														45			14		0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25585324	25585324	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:25585324G>A	uc001zaq.3	-	12	3175	c.2415C>T	c.(2413-2415)ttC>ttT	p.F805F	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Silent_p.F782F|UBE3A_uc001zas.3_Silent_p.F802F|UBE3A_uc001zat.3_Silent_p.F782F	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	805	HECT.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TAAACTGCAAGAAGAGTCTTT	0.393000														98			24		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81568677	81568677	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81568677G>A	uc001szl.1	+	7	1300	c.1209G>A	c.(1207-1209)caG>caA	p.Q403Q	ACSS3_uc001szm.1_Silent_p.Q402Q|ACSS3_uc001szn.1_Silent_p.Q85Q	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	403						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TCCGTCAACAGGACCCTGGGG	0.493000														59			13		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940784	22940784	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22940784G>A	uc021urt.1	-	3	2082	c.1927C>T	c.(1927-1929)Cat>Tat	p.H643Y		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTCCAGTATGAATTATCTCA	0.363000														68			21		0	0	1	0	0
IFITM5	387733	broad.mit.edu	37	11	298534	298534	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:298534G>A	uc001low.1	-	1	402	c.366C>T	c.(364-366)ttC>ttT	p.F122F		NM_001025295	NP_001020466	A6NNB3	IFM5_HUMAN	Homo sapiens interferon induced transmembrane protein 5 (IFITM5), mRNA.	122					multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane				lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACTTGGTGCTGAAGAAGGCGG	0.672000														23			13		0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161044144	161044144	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161044144C>T	uc001fxo.2	-	5	1319	c.1020G>A	c.(1018-1020)ggG>ggA	p.G340G	PVRL4_uc010pjy.1_Silent_p.G19G|PVRL4_uc010pjz.1_Silent_p.G74G	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	340					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCACCTGCTTCCCAGAGTCTT	0.612000														57			28		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102045066	102045066	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:102045066A>C	uc001tii.3	+	13	1486	c.1346A>C	c.(1345-1347)gAa>gCa	p.E449A	MYBPC1_uc001tif.2_Missense_Mutation_p.E462A|MYBPC1_uc001tig.3_Missense_Mutation_p.E474A|MYBPC1_uc010svr.2_Missense_Mutation_p.E449A|MYBPC1_uc010svs.2_Missense_Mutation_p.E449A|MYBPC1_uc001tij.3_Missense_Mutation_p.E449A|MYBPC1_uc010svt.2_Missense_Mutation_p.E437A|MYBPC1_uc010svu.2_Missense_Mutation_p.E430A|MYBPC1_uc001tik.3_Missense_Mutation_p.E423A|MYBPC1_uc001tih.3_Missense_Mutation_p.E474A|MYBPC1_uc010svq.2_Missense_Mutation_p.E436A	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	449	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CTTGGAAAAGAAATCTGCCTG	0.418000														121			36		0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6635479	6635479	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6635479C>T	uc001qoo.2	+	19	2554	c.2508C>T	c.(2506-2508)ccC>ccT	p.P836P	NCAPD2_uc009zen.1_Silent_p.P708P|NCAPD2_uc010sfd.1_Silent_p.P791P	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	836					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GTCACCCCCCCTTCCGGCTGC	0.567000														73			34		0	0	1	0	0
WBP11	51729	broad.mit.edu	37	12	14942001	14942001	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:14942001G>A	uc001rci.3	-	10	1537	c.1376C>T	c.(1375-1377)cCt>cTt	p.P459L		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	459	Pro-rich.				RNA splicing|mRNA processing|rRNA processing	cytoplasm	WW domain binding|single-stranded DNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TGGTCCTGGAGGTAAAAGTCG	0.597000														25			7		0	0	1	0	0
CLDN3	1365	broad.mit.edu	37	7	73184326	73184326	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:73184326C>T	uc003tzg.4	-	0	275	c.54G>A	c.(52-54)ctG>ctA	p.L18L		NM_001306	NP_001297	O15551	CLD3_HUMAN	Homo sapiens claudin 3 (CLDN3), mRNA.	18					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				CGATGGTGCCCAGCCAGCCCA	0.692000														18			10		0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105412371	105412371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:105412371G>A	uc003dwc.3	-	12	2343	c.2021C>T	c.(2020-2022)cCt>cTt	p.P674L	CBLB_uc011bhi.2_Missense_Mutation_p.P696L|CBLB_uc003dwd.2_Missense_Mutation_p.P674L|CBLB_uc003dwe.2_Missense_Mutation_p.P674L	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	674	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AACTGGAGGAGGAGGAGAAAG	0.413000			Mis S		AML									32			20		0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221755	5221755	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5221755C>T	uc010qyz.2	-	0	176	c.176G>A	c.(175-177)tGg>tAg	p.W59*		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W59*(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTCAGTCCATATCACATG	0.532000														77			27		0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127767930	127767930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:127767930G>A	uc011ebs.2	-	4	1870	c.1534C>T	c.(1534-1536)Ccc>Tcc	p.P512S	KIAA0408_uc003qbc.3_Missense_Mutation_p.P512S|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_Intron|KIAA0408_uc003qbb.3_Missense_Mutation_p.P395S	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	512							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTCTTGGTGGGATTATCAGGC	0.473000														43			6		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422971	26422971	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26422971C>T	uc003abz.1	+	42	7281	c.7031C>T	c.(7030-7032)tCg>tTg	p.S2344L	MYO18B_uc003aca.1_Missense_Mutation_p.S2225L|MYO18B_uc010guy.1_Missense_Mutation_p.S2226L|MYO18B_uc010guz.1_Missense_Mutation_p.S2224L|MYO18B_uc011aka.1_Missense_Mutation_p.S1498L|MYO18B_uc011akb.1_Missense_Mutation_p.S1857L|MYO18B_uc010gva.1_Missense_Mutation_p.S327L|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2344				KS -> LT (in Ref. 5).		nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						CCCGAAAAGTCGAAAACCCAA	0.557000														91			22		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10576035	10576035	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:10576035G>A	uc002czw.3	+	10	2137	c.1978G>A	c.(1978-1980)Gat>Aat	p.D660N	ATF7IP2_uc010uyp.2_Missense_Mutation_p.D204N|ATF7IP2_uc002czu.3_Missense_Mutation_p.D660N|ATF7IP2_uc002czv.3_3'UTR|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	660	Fibronectin type-III.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						CCAATCAAAAGATATTTTTGG	0.328000														93			16		0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58285269	58285269	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:58285269C>T	uc002aex.3	-	5	831	c.558G>A	c.(556-558)tgG>tgA	p.W186*	ALDH1A2_uc010ugv.2_Nonsense_Mutation_p.W165*|ALDH1A2_uc002aey.3_Nonsense_Mutation_p.W186*|ALDH1A2_uc010ugw.2_Nonsense_Mutation_p.W157*|ALDH1A2_uc002aew.3_Nonsense_Mutation_p.W90*	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	186					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GGGGGAAGTTCCACTGAAAGG	0.418000														56			15		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20492183	20492183	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20492183G>A	uc010bwe.3	+	12	1688	c.1449G>A	c.(1447-1449)atG>atA	p.M483I	ACSM2A_uc010vax.1_Missense_Mutation_p.M404I|ACSM2A_uc002dhf.4_Missense_Mutation_p.M483I|ACSM2A_uc002dhg.4_Missense_Mutation_p.M483I|ACSM2A_uc010vay.2_Missense_Mutation_p.M404I|ACSM2A_uc002dhh.4_Missense_Mutation_p.M113I	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	483					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ATGCACTGATGGAGCACCCTG	0.567000														53			27		0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78353570	78353570	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:78353570C>T	uc001xui.3	+	4	659	c.560C>T	c.(559-561)tCg>tTg	p.S187L	ADCK1_uc010tvo.1_Intron|ADCK1_uc001xuj.3_Missense_Mutation_p.S119L|ADCK1_uc001xuk.1_Missense_Mutation_p.S61L	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	194	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GCTCAGAGCTCGAAGGACATT	0.617000														75			25		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39228062	39228062	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:39228062C>T	uc003cjk.2	-	1	3104	c.2875G>A	c.(2875-2877)Gag>Aag	p.E959K	XIRP1_uc003cji.3_Missense_Mutation_p.E959K|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.E959K	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	959							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)		TGGGCCCCCTCGCTGGCTGGC	0.657000														58			21		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16882980	16882980	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:16882980G>A	uc001ioo.3	-	60	9782	c.9730C>T	c.(9730-9732)Cct>Tct	p.P3244S		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3244	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGATAAAAGGAGCAGGTACT	0.388000														70			25		0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27493257	27493257	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:27493257G>A	uc002hdt.1	-	1	860	c.702C>T	c.(700-702)tcC>tcT	p.S234S	MYO18A_uc010csa.1_Silent_p.S234S|MYO18A_uc002hdu.1_Silent_p.S234S	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	234	PDZ.				DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGCGCCGCAGGGAGAAGCCAA	0.701000														44			30		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13399748	13399748	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:13399748G>A	uc003bxv.1	-	15	2385	c.2302C>T	c.(2302-2304)Ccg>Tcg	p.P768S	NUP210_uc003bxx.3_Missense_Mutation_p.P440S	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	768					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGCAGCAGCGGACAGGACATG	0.667000														88			20		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47041164	47041164	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:47041164C>T	uc003cqp.3	+	25	3927	c.3748C>T	c.(3748-3750)Ctc>Ttc	p.L1250F	NBEAL2_uc010hjm.2_Intron|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1250	Leu-rich.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACAGCTGTCCCTCCAGGCTGA	0.607000														39			10		0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105048321	105048321	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105048321G>T	uc001kws.3	+	2	1444	c.1395G>T	c.(1393-1395)caG>caT	p.Q465H		NM_032727	NP_116116	Q16352	AINX_HUMAN	Homo sapiens internexin neuronal intermediate filament protein, alpha (INA), mRNA.	465	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AAACCTCCCAGATAGGGGAAA	0.403000														76			6		0.0215528	0.0215558	1	1	0
PREX2	80243	broad.mit.edu	37	8	68968189	68968190	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:68968189_68968190CC>TT	uc003xxv.1	+	9	1245_1246	c.1218_1219CC>TT	c.(1216-1221)ttccct>ttTTct	p.P407S	PREX2_uc003xxu.1_Missense_Mutation_p.P407S|PREX2_uc011lez.1_Missense_Mutation_p.P342S	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	407	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.P407H(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGACTACGTTCCCTAAATGCTT	0.396000														86			29		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91779837	91779837	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:91779837G>A	uc010aty.3	-	14	2477	c.2323C>T	c.(2323-2325)Ctg>Ttg	p.L775L		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	775					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGCTCTCCAGGCTCTGCTGC	0.662000														21			12		0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40853713	40853713	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:40853713C>T	uc002law.3	-	1	1050	c.681G>A	c.(679-681)ggG>ggA	p.G227G	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Silent_p.G209G	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	227	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.G227W(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGTAGGGTATCCCATAGAATG	0.398000														105			33		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50195622	50195622	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50195622C>T	uc010eng.3	+	2	429	c.113C>T	c.(112-114)tCc>tTc	p.S38F	CPT1C_uc002ppl.4_Missense_Mutation_p.S38F|CPT1C_uc002ppi.3_5'UTR|CPT1C_uc002ppk.3_Missense_Mutation_p.S38F|CPT1C_uc010enh.3_Missense_Mutation_p.S38F|CPT1C_uc002ppj.3_Missense_Mutation_p.S38F|CPT1C_uc010ybc.1_5'UTR	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	38					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGCCTGCGCTCCTGGAAAAGG	0.617000														28			15		0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43279991	43279991	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:43279991C>T	uc001jaj.3	+	1	507	c.149C>T	c.(148-150)gCt>gTt	p.A50V		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	50					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTCAGTCTGCTGTGCGGATG	0.468000														123			33		0	0	1	0	0
CD276	80381	broad.mit.edu	37	15	73996519	73996519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:73996519C>T	uc002avv.1	+	5	1309	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	CD276_uc010bjd.1_Missense_Mutation_p.P213S|CD276_uc002avu.1_Missense_Mutation_p.P359S|CD276_uc002avw.1_Missense_Mutation_p.P141S|CD276_uc010ulb.1_Missense_Mutation_p.P305S	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	359					T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						ACCTCCAGCTCCCTACTCGAA	0.637000														22			6		0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39542544	39542544	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:39542544C>T	uc002lap.3	+	2	406	c.348C>T	c.(346-348)ccC>ccT	p.P116P	PIK3C3_uc010xcl.2_Silent_p.P53P|PIK3C3_uc002lao.3_Silent_p.P116P	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 3 (PIK3C3), mRNA.	116					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TGTATGGTCCCGGAAAAGCAG	0.483000										TSP Lung(28;0.18)				83			22		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50735323	50735323	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50735323C>T	uc010enu.1	+	9	1157	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	MYH14_uc002prq.1_Silent_p.I370I|MYH14_uc002prr.1_Silent_p.I362I	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	362	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ACGAGGAAATCATCTGTGAGT	0.627000														28			14		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55481539	55481539	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55481539G>A	uc021vbq.1	+	1	267	c.156G>A	c.(154-156)ggG>ggA	p.G52G	NLRP2_uc010yfp.2_Intron|NLRP2_uc002qij.3_Silent_p.G52G|NLRP2_uc010esp.3_Silent_p.G52G|NLRP2_uc010esn.3_Silent_p.G52G|NLRP2_uc010eso.3_Silent_p.G52G	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	52	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGGCTGATGGGAAGCAACTGG	0.527000														63			16		0	0	1	0	0
GRAMD4	23151	broad.mit.edu	37	22	47022730	47022730	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:47022730G>A	uc003bhx.3	+	0	83	c.34G>A	c.(34-36)Ggt>Agt	p.G12S		NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	12					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)		CAGGTTCAGAGGTCACAAGAG	0.562000														65			14		0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	171871371	171871371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:171871371C>T	uc002ugo.2	-	13	1859	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	TLK1_uc002ugn.2_Missense_Mutation_p.D442N|TLK1_uc002ugp.2_Missense_Mutation_p.D394N|TLK1_uc002ugq.2_Non-coding_Transcript|TLK1_uc010zdn.1_Missense_Mutation_p.D346N	NM_001136554	NP_036422	Q9UKI8	TLK1_HUMAN	Homo sapiens tousled-like kinase 1 (TLK1), transcript variant 2, mRNA.	442	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGTGAATTATCTTCATTGTTT	0.368000														89			29		0	0	1	0	0
C9orf135	138255	broad.mit.edu	37	9	72471531	72471531	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:72471531G>A	uc004ahl.3	+	2	387	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	C9orf135_uc011lrw.2_5'UTR|C9orf135_uc010moq.3_5'UTR|C9orf135_uc011lrx.2_Non-coding_Transcript|C9orf135_uc010mop.3_Missense_Mutation_p.E108K	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	Homo sapiens chromosome 9 open reading frame 135 (C9orf135), mRNA.	108						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						AGAATGGGTTGAAATGAAGAG	0.338000														58			24		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32272248	32272248	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:32272248C>T	uc011alu.2	+	36	4004	c.3802C>T	c.(3802-3804)Cga>Tga	p.R1268*	DEPDC5_uc011als.2_Nonsense_Mutation_p.R1168*|DEPDC5_uc003als.3_Nonsense_Mutation_p.R1237*|DEPDC5_uc011alv.2_Intron|DEPDC5_uc003alt.3_Nonsense_Mutation_p.R1259*|DEPDC5_uc003alv.3_Intron|DEPDC5_uc003alu.3_Nonsense_Mutation_p.R686*|DEPDC5_uc003alw.3_Nonsense_Mutation_p.R535*|DEPDC5_uc011alx.2_Nonsense_Mutation_p.R85*|DEPDC5_uc010gwk.3_Nonsense_Mutation_p.R263*|DEPDC5_uc011aly.2_Nonsense_Mutation_p.R85*	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1237					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGAGCCCGACCGAGGTTAGAG	0.532000														90			45		0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486458	125486458	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125486458C>T	uc004bmu.1	+	0	190	c.190C>T	c.(190-192)Ctc>Ttc	p.L64F		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GTACTTTTTTCTCAGCAACTT	0.453000														74			27		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124095744	124095744	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124095744T>G	uc010saf.2	+	0	347	c.347T>G	c.(346-348)tTc>tGc	p.F116C		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	116						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CAGCTTTACTTCTTCCTCATT	0.448000														158			31		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139884519	139884519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:139884519C>T	uc003lfs.2	+	15	3272	c.3118C>T	c.(3118-3120)Cct>Tct	p.P1040S	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.P1059S|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.P1040S|ANKHD1-EIF4EBP3_uc003lft.1_Missense_Mutation_p.P251S|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.P520S|ANKHD1-EIF4EBP3_uc003lfv.1_Missense_Mutation_p.P117S	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1040						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGATGCCTCCTGTGTATCC	0.413000														97			36		0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41277899	41277899	+	Missense_Mutation	SNP	C	T	T	rs73885709		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:41277899C>T	uc003azh.3	+	2	408	c.307C>T	c.(307-309)Cct>Tct	p.P103S	XPNPEP3_uc011aox.2_Missense_Mutation_p.P103S|XPNPEP3_uc003azi.3_Missense_Mutation_p.P24S|XPNPEP3_uc011aoy.1_Non-coding_Transcript|XPNPEP3_uc010gyh.1_Non-coding_Transcript	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	103					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GCTCTCCAACCCTACATACTA	0.463000														96			45		0	0	1	0	0
FAM109A	144717	broad.mit.edu	37	12	111801115	111801115	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:111801115G>A	uc001tsc.3	-	1	221	c.186C>T	c.(184-186)ttC>ttT	p.F62F	FAM109A_uc021rdy.1_Silent_p.F52F|FAM109A_uc001tsd.4_Silent_p.F39F|FAM109A_uc009zvu.3_Silent_p.F39F|FAM109A_uc021rdz.1_Silent_p.F39F	NM_144671	NP_653272	Q8N4B1	SESQ1_HUMAN	Homo sapiens family with sequence similarity 109, member A (FAM109A), transcript variant 2, mRNA.	39	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			breast(1)|endometrium(1)|lung(1)|ovary(1)	4						CGCGCAGCACGAACCAGCGCC	0.662000														34			7		0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608595	4608595	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4608595G>A	uc010qyh.2	+	0	575	c.553G>A	c.(553-555)Gcc>Acc	p.A185T		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCTATCATAGCCATAACTCC	0.493000														87			37		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28499611	28499611	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28499611C>T	uc003nll.2	+	2	300	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	GPX5_uc003nlm.2_Intron|GPX5_uc003nln.2_Intron	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	100					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	GTTGGGCTTTCCCTGCAACCA	0.468000														227			63		0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100131594	100131594	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:100131594C>T	uc003huo.2	-	3	422	c.328G>A	c.(328-330)Ggc>Agc	p.G110S	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_5'UTR|ADH6_uc003hup.4_Missense_Mutation_p.G110S|ADH6_uc010ile.3_Missense_Mutation_p.G110S	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	110					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CAAAAATTGCCCTCAGAATTC	0.303000														91			32		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129712754	129712754	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:129712754G>A	uc021zfb.1	+	35	5295	c.5190G>A	c.(5188-5190)agG>agA	p.R1730R	LAMA2_uc003qbn.3_Silent_p.R1730R|LAMA2_uc003qbo.3_Silent_p.R1730R	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1730	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AACTGAGGAGGAAAAATCTAG	0.353000														41			34		0	0	1	0	0
KDELC1	79070	broad.mit.edu	37	13	103443710	103443710	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:103443710G>A	uc001vpq.4	-	4	1127	c.743C>T	c.(742-744)tCa>tTa	p.S248L	KDELC1_uc001vpr.4_Missense_Mutation_p.S29L	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 1 (KDELC1), mRNA.	248						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATGGATGTTTGAATTGGATTT	0.428000														261			140		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101480449	101480449	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:101480449G>A	uc010svm.1	+	16	2120	c.1548G>A	c.(1546-1548)gtG>gtA	p.V516V	ANO4_uc001thw.2_Silent_p.V481V|ANO4_uc001thx.2_Silent_p.V516V|ANO4_uc001thy.2_Silent_p.V36V	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	516						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						TCTGCGTGGTGATTGCTGCCG	0.502000										HNSCC(74;0.22)				203			90		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73056942	73056942	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:73056942T>C	uc001sxa.3	+	18	3072	c.3042T>C	c.(3040-3042)ctT>ctC	p.L1014L		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	1014					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.E1013Q(1)		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						AAGACGAGCTTTTCCAATGGT	0.393000														31			16		0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213014	9213014	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9213014C>T	uc010xkk.2	-	0	969	c.969G>A	c.(967-969)agG>agA	p.R323R		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CTATGAACTTCCTCAAGGTTC	0.443000														60			19		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791924	95791924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95791924C>T	uc001kjk.3	+	1	1755	c.1121C>T	c.(1120-1122)cCt>cTt	p.P374L	PLCE1_uc010qnx.2_Missense_Mutation_p.P374L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	374					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCCTTACTGCCTTGTGGGAGA	0.483000														66			20		0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101718571	101718571	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:101718571G>A	uc021sxt.1	-	2	1907	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	CHSY1_uc010usd.2_Silent_p.F205F	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	477					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGATTTTGCTGAAAGTCTGCT	0.488000														33			40		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734558	92734558	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92734558G>A	uc003umf.3	-	2	1123	c.853C>T	c.(853-855)Cga>Tga	p.R285*	SAMD9_uc003umg.3_Nonsense_Mutation_p.R285*|SAMD9_uc022ahg.1_Nonsense_Mutation_p.R285*	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	285						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)			CTTGGCTCTCGAATGCACTTC	0.373000														92			36		0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25671151	25671151	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25671151G>A	uc001upy.3	+	0	876	c.815G>A	c.(814-816)cGg>cAg	p.R272Q		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	272					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.R272Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGTGGAACGGCAGACGGAA	0.398000														136			49		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77290690	77290690	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77290690G>A	uc003hkb.4	-	9	1389	c.1236C>T	c.(1234-1236)atC>atT	p.I412I		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	412										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GGTCAATGGTGATGCTGTTGC	0.557000														84			6		0	0	1	0	0
AK296148	0	broad.mit.edu	37	17	18333049	18333049	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:18333049G>A	uc010vxz.2	+	3		c.871G>A								Homo sapiens cDNA FLJ61294 complete cds, highly similar to Keratin, type I cytoskeletal 17.																		GTGGAGATGGGCGCTGCCCCA	0.582000														17			21		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165984197	165984197	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:165984197C>T	uc002ucx.3	-	17	3829	c.3337G>A	c.(3337-3339)Gaa>Aaa	p.E1113K	SCN3A_uc002ucy.3_Missense_Mutation_p.E1064K|SCN3A_uc002ucz.3_Missense_Mutation_p.E1064K|SCN3A_uc002uda.1_Missense_Mutation_p.E933K|SCN3A_uc002udb.1_Missense_Mutation_p.E933K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1113						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTTAAGTTTTCAAAGTCAGAC	0.358000														78			38		0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37353567	37353567	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:37353567G>A	uc002xjc.3	+	0	463	c.200G>A	c.(199-201)gGa>gAa	p.G67E		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	67					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AAAGCCGAGGGAGAGCCCTGC	0.677000														42			5		0	0	1	0	0
KIAA0146	23514	broad.mit.edu	37	8	48309146	48309146	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:48309146C>T	uc003xqd.3	+	5	798	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	KIAA0146_uc011lcz.2_Intron|KIAA0146_uc011lda.2_Intron|KIAA0146_uc011ldb.2_Missense_Mutation_p.P246S|KIAA0146_uc010lxs.3_5'UTR|KIAA0146_uc011ldc.2_Missense_Mutation_p.P176S|KIAA0146_uc011ldd.2_Missense_Mutation_p.P186S|KIAA0146_uc003xqe.3_Intron|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	246										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				AGCTAAGTTTCCCAGGACTCC	0.353000														181			80		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34810239	34810239	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34810239C>T	uc010gfq.3	+	10	3217	c.2854C>T	c.(2854-2856)Cct>Tct	p.P952S	EPB41L1_uc002xeu.3_Missense_Mutation_p.P752S|EPB41L1_uc002xev.3_Missense_Mutation_p.P853S|EPB41L1_uc002xew.3_Missense_Mutation_p.P745S|EPB41L1_uc002xex.3_Missense_Mutation_p.P674S|EPB41L1_uc002xey.3_Missense_Mutation_p.P604S|EPB41L1_uc002xez.3_Missense_Mutation_p.P752S|EPB41L1_uc002xfb.3_Missense_Mutation_p.P854S	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	854					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ACTGCAGCATCCTGATATGCT	0.522000														178			15		0	0	1	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20474889	20474889	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:20474889C>T	uc009vpp.1	+	4	729	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA.	168					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	p.P210P(1)|p.P211P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCCCGCCCCTCCCTAGAGCCT	0.657000														48			9		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33293903	33293903	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:33293903C>T	uc001wrq.3	+	12	7054	c.6884C>T	c.(6883-6885)cCc>cTc	p.P2295L		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	2295					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GCATTGCATCCCAGCCCCAAA	0.433000														86			31		0	0	1	0	0
SEPT5	5413	broad.mit.edu	37	22	19709226	19709226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:19709226C>T	uc002zpv.2	+	8	906	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	SEPT5_uc002zpw.1_Missense_Mutation_p.R270W|SEPT5_uc002zpx.1_Non-coding_Transcript|GP1BB_uc002zpz.2_5'UTR	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	Homo sapiens septin 5 (SEPT5), transcript variant 1, mRNA.	261					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GCAGCGGGTCCGGGGCCGACT	0.677000														65			42		0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137665307	137665307	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:137665307G>A	uc003lcs.1	-	2	658	c.458C>T	c.(457-459)tCg>tTg	p.S153L	CDC25C_uc003lcp.1_Missense_Mutation_p.S75L|CDC25C_uc003lcq.1_Intron|CDC25C_uc003lcr.1_Missense_Mutation_p.S75L|CDC25C_uc011cyp.1_Missense_Mutation_p.S92L|CDC25C_uc010jet.1_Missense_Mutation_p.S75L|CDC25C_uc003lct.1_Missense_Mutation_p.S75L|CDC25C_uc003lcu.1_Intron	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	75					DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCTAAGATTCGAAAGATCGAG	0.423000														124			51		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921362	24921362	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24921362C>T	uc001ywo.3	+	0	822	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	116					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)		CCGTAAGGATCCCTCCTCCCA	0.657000														57			28		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36122870	36122870	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:36122870C>T	uc003gsq.2	-	22	4163	c.3825G>A	c.(3823-3825)acG>acA	p.T1275T		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1275	Rho-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						TTTGTCCCTTCGTTTGAAACA	0.338000														87			7		0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14601461	14601461	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:14601461G>A	uc003jfj.3	+	4	370	c.257_splice	c.e4-1	p.R86_splice		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA.	86										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TTGGTCCAGGGAACCTCAGTG	0.398000														77			27		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	30054406	30054406	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:30054406G>A	uc001usl.4	+	7	3392	c.3334G>A	c.(3334-3336)Gag>Aag	p.E1112K	MTUS2_uc001usm.4_Missense_Mutation_p.E81K|MTUS2_uc010aau.3_5'UTR|BC027486_uc001usn.3_Intron	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	1102	Localization to the growing distal tip of microtubules.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGAGCTGGAGGAGCGGCTGCA	0.632000														3			3		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198126	20198126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:20198126C>T	uc003sus.4	-	4	2167	c.1858G>A	c.(1858-1860)Gag>Aag	p.E620K	MACC1_uc010kug.3_Missense_Mutation_p.E620K	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	620					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ATTACTTGCTCCTTTGAAATC	0.358000														163			54		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140308563	140308563	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140308563C>T	uc003lih.2	+	0	2262	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.L696L	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	720					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)			CTTTTTATTTCTGGGGTGCTT	0.478000														146			49		0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387882	46387882	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46387882G>A	uc002pds.1	-	0	1495	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 1 (IRF2BP1), mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGGCTCGGGGGATGCCTTGCG	0.746000														29			5		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646362	57646362	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57646362C>T	uc002qnz.1	-	4	1729	c.1343G>A	c.(1342-1344)gGa>gAa	p.G448E		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCAGAACATCCATAAGGTTT	0.408000														165			51		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545019	82545019	+	Silent	SNP	G	A	A	rs76835434	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82545019G>A	uc003uhx.2	-	6	12572	c.12283C>T	c.(12283-12285)Cta>Tta	p.L4095L	PCLO_uc003uhv.2_Silent_p.L4095L|PCLO_uc010lec.3_Silent_p.L1060L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4026					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						AAAGGTGCTAGGAAATCTGTC	0.448000														20			7		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31816148	31816148	+	Missense_Mutation	SNP	G	A	A	rs143438972	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:31816148G>A	uc001ivs.4	+	8	3394	c.3331G>A	c.(3331-3333)Gag>Aag	p.E1111K	ZEB1_uc001ivr.4_Missense_Mutation_p.E893K|ZEB1_uc010qef.2_Missense_Mutation_p.E893K|ZEB1_uc001ivu.4_Missense_Mutation_p.E1112K|ZEB1_uc010qeh.2_Missense_Mutation_p.E1044K|ZEB1_uc001ivv.4_Missense_Mutation_p.E1091K|ZEB1_uc001ivt.4_Missense_Mutation_p.E893K|ZEB1_uc009xlo.2_Missense_Mutation_p.E1094K|ZEB1_uc009xlp.3_Missense_Mutation_p.E1095K	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	1111	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAAGTAGGCGAGAGTAGTGA	0.378000														19			10		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62029974	62029974	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:62029974G>A	uc001jky.3	-	4	766	c.428C>T	c.(427-429)cCa>cTa	p.P143L	ANK3_uc010qih.2_Missense_Mutation_p.P126L|ANK3_uc001jkz.4_Missense_Mutation_p.P137L|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	143					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						CATATACAATGGCGTGAAACC	0.403000														36			12		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141457966	141457967	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141457966_141457967GA>AT	uc002tvj.1	-	40	7623_7624	c.6651_6652TC>AT	c.(6649-6654)aatcca>aaATca	p.2217_2218NP>KS		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2217					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAATAACGTGGATTCTCATATG	0.337000										TSP Lung(27;0.18)				131			20		0	0	1	0	0
ASB14	142686	broad.mit.edu	37	3	57312513	57312513	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:57312513C>T	uc021wzs.1	-	6	1394	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L	ASB14_uc003dip.1_Silent_p.L156L|ASB14_uc003diq.3_Silent_p.L277L	NM_001142733	NP_001136205	A6NK59	ASB14_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 14 (ASB14), transcript variant 1, mRNA.	441					intracellular signal transduction					central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		ACCCATAGTTCAGCAGCATCC	0.438000														118			38		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249931	140249931	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140249931G>A	uc003lia.2	+	0	2101	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	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_uc011dae.2_Missense_Mutation_p.E415K	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), 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)			CCTGGACCGCGAGAACGTGTG	0.627000														180			67		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21899156	21899156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21899156G>A	uc001war.2	-	0	712	c.647C>T	c.(646-648)tCc>tTc	p.S216F	CHD8_uc001was.2_Intron|Metazoa_SRP_uc021row.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	216					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGAGACAATGGAAACACCTGG	0.567000														32			7		0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169533134	169533134	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:169533134C>T	uc003mai.4	+	0	218	c.173C>T	c.(172-174)aCc>aTc	p.T58I	FOXI1_uc003maj.4_Missense_Mutation_p.T58I	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	58	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA 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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TATGGGGCCACCCCCAACCCC	0.682000									Pendred syndrome					19			9		0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701978	143701978	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143701978G>A	uc003wdt.1	+	0	889	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K296fs*1(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					AGAGGTCAAGGAAGCTCTGAA	0.433000														59			6		0	0	1	0	0
SLC1A1	6505	broad.mit.edu	37	9	4544603	4544603	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:4544603A>G	uc003zij.2	+	1	381	c.128A>G	c.(127-129)aAc>aGc	p.N43S		NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	43					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	GAACACAGCAACCTCTCAACT	0.388000														118			23		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78784639	78784639	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:78784639G>A	uc004akc.2	+	12	2177	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	PCSK5_uc004ajy.2_Missense_Mutation_p.E547K|PCSK5_uc004ajz.3_Missense_Mutation_p.E547K|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	547	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCACTCCATGGAAGGATTCAA	0.413000														100			27		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150723772	150723772	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:150723772C>T	uc003lty.3	-	1	351	c.221G>A	c.(220-222)gGa>gAa	p.G74E	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.G74E|SLC36A2_uc011dct.1_Missense_Mutation_p.G74E	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	74					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGGGGTAGTCCCAGGATCCC	0.552000														58			6		0	0	1	0	0
ACADSB	36	broad.mit.edu	37	10	124802595	124802595	+	Missense_Mutation	SNP	C	T	T	rs138063747		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124802595C>T	uc001lhb.3	+	5	832	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C	ACADSB_uc010qub.2_Missense_Mutation_p.R137C	NM_001609	NP_001600	P45954	ACDSB_HUMAN	Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	239					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CTTAGTAGATCGTGATACTCC	0.398000														110			45		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130286178	130286178	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:130286178G>A	uc001qgg.4	-	3	1502	c.1144C>T	c.(1144-1146)Ctc>Ttc	p.L382F		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	382	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGCCCGAAGAGCCGTGTGCAG	0.672000														6			3		0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207103749	207103749	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207103749C>T	uc001hez.3	-	10	2393	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K	PIGR_uc009xbz.3_Missense_Mutation_p.E737K	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	737						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCGGCTTCCTCCTTGGATGAC	0.627000														34			8		0	0	1	0	0
MFSD12	126321	broad.mit.edu	37	19	3557246	3557246	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3557246G>A	uc002lxw.3	-	0	326	c.156C>T	c.(154-156)gcC>gcT	p.A52A	MFSD12_uc002lxx.3_Silent_p.A52A|MFSD12_uc002lxy.3_Silent_p.A52A|MFSD12_uc002lxz.3_Silent_p.A52A	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	52					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GGGAGCTGTAGGCGCGCACCG	0.711000														14			8		0	0	1	0	0
GTPBP10	85865	broad.mit.edu	37	7	90007497	90007497	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:90007497C>T	uc003ukm.2	+	7	826	c.749C>T	c.(748-750)gCt>gTt	p.A250V	GTPBP10_uc003ukn.2_Missense_Mutation_p.A171V|GTPBP10_uc003uko.2_Missense_Mutation_p.A60V	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	Homo sapiens GTP-binding protein 10 (putative) (GTPBP10), transcript variant 2, mRNA.	250					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						TACAGGACAGCTTTTGAAACC	0.323000														34			19		0	0	1	0	0
ATG4A	115201	broad.mit.edu	37	X	107393513	107393513	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:107393513C>T	uc004enr.3	+	9	1104	c.946C>T	c.(946-948)Cct>Tct	p.P316S	ATG4A_uc004ens.3_Missense_Mutation_p.P232S|ATG4A_uc011msl.2_Missense_Mutation_p.P170S|ATG4A_uc010npi.3_Non-coding_Transcript|ATG4A_uc004ent.3_Missense_Mutation_p.P254S|COL4A6_uc011msm.1_Intron	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog A (S. cerevisiae) (ATG4A), transcript variant 1, mRNA.	316					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						AAACCTGGATCCTTCAGTTGC	0.488000														104			22		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75107041	75107041	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75107041C>T	uc001dgg.3	-	4	637	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	140										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						GAATGTCCTTCATCAACCAGA	0.423000														104			22		0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32751281	32751281	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32751281C>T	uc001bux.3	+	12	1632	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	LCK_uc001buy.3_Silent_p.F498F|LCK_uc001buz.3_Silent_p.F528F|LCK_uc001bva.3_Silent_p.F505F	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	498	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	AGGACTTCTTCACGGCCACAG	0.612000			T	TRB@	T-ALL									20			9		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110819735	110819735	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:110819735G>A	uc003kpf.3	+	10	1228	c.993G>A	c.(991-993)aaG>aaA	p.K331K	CAMK4_uc010jbv.3_Silent_p.K134K|CAMK4_uc003kpg.3_Silent_p.K22K	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	331	Calmodulin-binding (Potential).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CAGCGGTGAAGGCTGTGGTGG	0.557000														35			15		0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147685156	147685156	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:147685156C>T	uc003qlz.3	+	24	3110	c.2935C>T	c.(2935-2937)Ctg>Ttg	p.L979L	STXBP5_uc010khz.2_Silent_p.L943L|STXBP5_uc003qly.3_Silent_p.L634L	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	979					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TTTAAGACCTCTGTTGGATGT	0.358000														107			74		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22163861	22163861	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:22163861C>T	uc010vbq.2	+	30	3407	c.3311C>T	c.(3310-3312)gCt>gTt	p.A1104V	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc002dkg.4_Missense_Mutation_p.A182V|VWA3A_uc010bxe.1_Missense_Mutation_p.A206V	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	1104	VWFA 2.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGAAAGCTGGCTTCCTTCACC	0.567000														14			7		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53678703	53678703	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53678703G>A	uc010eqm.1	-	2	237	c.137C>T	c.(136-138)tCc>tTc	p.S46F		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CTCACCCAGGGAGACCAGGTT	0.483000														145			56		0	0	1	0	0
NPIP	9284	broad.mit.edu	37	16	15026547	15026547	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:15026547C>T	uc002dcx.4	+	6		c.1195C>T						Q9UND3	NPIP_HUMAN	Homo sapiens nuclear pore complex interacting protein (NPIP), mRNA.						mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore											GATCGCCACCCCGCACAGCCT	0.632000														110			14		0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40815211	40815211	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:40815211G>A	uc003ayv.1	-	8	1438	c.1231C>T	c.(1231-1233)Cca>Tca	p.P411S	MKL1_uc010gyf.1_Missense_Mutation_p.P361S|MKL1_uc003ayw.1_Missense_Mutation_p.P411S|MKL1_uc010gye.1_Missense_Mutation_p.P411S	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	411					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CGGGCCGCTGGGAAGGCTACC	0.677000			T	RBM15	acute megakaryocytic leukemia									9			3		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51053096	51053097	+	Missense_Mutation	DNP	GG	AA	AA	rs78088324		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:51053096_51053097GG>AA	uc002lfe.2	+	27	4837_4838	c.4221_4222GG>AA	c.(4219-4224)gaggag>gaAAag	p.E1408K	DCC_uc010dpf.2_Missense_Mutation_p.E1041K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1408					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAGTGTCTGAGGAGAGCCACAA	0.480000														89			8		0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106066502	106066502	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106066502T>C	uc001yrw.1	-	4	1242	c.1230A>G	c.(1228-1230)gaA>gaG	p.E410E	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Silent_p.E357E|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_Non-coding_Transcript					RecName: Full=Ig epsilon chain C region;																		TCTGCTCCCATTCGGCCCTGG	0.627000														121			7		0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110439146	110439146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:110439146G>A	uc010npv.1	+	12	1322	c.1295G>A	c.(1294-1296)gGg>gAg	p.G432E	PAK3_uc010npt.1_Missense_Mutation_p.G396E|PAK3_uc010npu.1_Missense_Mutation_p.G396E|PAK3_uc004eoy.1_Missense_Mutation_p.G151E|PAK3_uc004eoz.2_Missense_Mutation_p.G396E|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.G417E|PAK3_uc004epa.2_Missense_Mutation_p.G411E	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	411	Protein kinase.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ATTCTTCTCGGGATGGATGGC	0.358000										TSP Lung(19;0.15)				49			70		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106917009	106917009	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106917009G>A	uc001kyi.1	+	9	1823	c.1596G>A	c.(1594-1596)gtG>gtA	p.V532V		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	532						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTCCGGATGTGGACCTGAGAG	0.562000														57			5		0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79128395	79128395	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:79128395G>A	uc001dip.4	+	7	1244	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K		NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	Homo sapiens interferon-induced protein 44 (IFI44), mRNA.	374					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						GCAGCTAGAGGAAGTCCAAAG	0.343000														87			10		0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21720271	21720271	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:21720271G>A	uc002nqd.1	+	3	1553	c.1416G>A	c.(1414-1416)agG>agA	p.R472R	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CTAGCCATAGGAGAATTCATA	0.383000														89			23		0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16411782	16411782	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:16411782C>T	uc003cay.3	-	5	1113	c.831G>A	c.(829-831)atG>atA	p.M277I	RFTN1_uc010hes.3_Missense_Mutation_p.M241I	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	277						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TGAAGATCTCCATTTCTGTTG	0.458000														193			79		0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12211262	12211262	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:12211262G>A	uc003bwm.3	+	12	1316	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	SYN2_uc003bwl.1_Missense_Mutation_p.M384I|SYN2_uc003bwn.3_Missense_Mutation_p.M62I	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	388					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						ACCAGGTCATGGACTGTAGCA	0.512000														38			14		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38830220	38830220	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38830220G>A	uc021yzh.1	+	43	6405	c.6296G>A	c.(6295-6297)gGa>gAa	p.G2099E	DNAH8_uc003ooe.2_Missense_Mutation_p.G1882E	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAGGCCTAGGAAGGATTTTC	0.348000														91			40		0	0	1	0	0
STOML1	9399	broad.mit.edu	37	15	74281509	74281509	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74281509G>A	uc002awe.3	-	2	401	c.330C>T	c.(328-330)ttC>ttT	p.F110F	STOML1_uc002awf.3_Silent_p.F110F|STOML1_uc010bje.3_Silent_p.F110F|STOML1_uc010uld.2_Silent_p.F68F|STOML1_uc002awh.3_Intron|STOML1_uc002awg.3_Intron	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	Homo sapiens stomatin (EPB72)-like 1 (STOML1), mRNA.	110						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						AGGAGTCAATGAAGGGCAAGA	0.597000														57			25		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457608	45457608	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:45457608C>T	uc001rol.3	-	0		c.1587G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		GTCACTGGTTCTGGATTGGGC	0.502000														59			18		0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119025518	119025518	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:119025518C>T	uc001pvs.3	+	5	915	c.579C>T	c.(577-579)tgC>tgT	p.C193C	ABCG4_uc009zar.3_Silent_p.C193C	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	193	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	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)		TGATGTCGTGCTCCCACACGA	0.642000														140			45		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70501234	70501234	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:70501234G>A	uc003xyg.2	+	6	1153	c.592G>A	c.(592-594)Gag>Aag	p.E198K	SULF1_uc010lza.1_Missense_Mutation_p.E198K|SULF1_uc003xyd.2_Missense_Mutation_p.E198K|SULF1_uc003xye.2_Missense_Mutation_p.E198K|SULF1_uc003xyf.2_Missense_Mutation_p.E198K	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	198					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	p.E198K(2)		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)			AATCACTAACGAGAGCATTAA	0.428000														73			18		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47593172	47593172	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47593172G>A	uc003gxk.1	+	22	4219	c.4055G>A	c.(4054-4056)gGg>gAg	p.G1352E	ATP10D_uc003gxl.1_Missense_Mutation_p.G600E	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1352					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AAGTGGAGAGGGGCTGGAAAG	0.473000														91			24		0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16475435	16475435	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:16475435G>A	uc003cay.3	-	2	537	c.255C>T	c.(253-255)ttC>ttT	p.F85F	RFTN1_uc010hes.3_Silent_p.F49F	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	85						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TGGGCTGCACGAAGGGGTGCA	0.642000														164			36		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121381702	121381702	+	Silent	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:121381702A>C	uc003yox.3	+	46	5554	c.5289A>C	c.(5287-5289)tcA>tcC	p.S1763S	COL14A1_uc003yoz.3_Silent_p.S728S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1763	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCCCTCATCATGTTCTGCCT	0.532000														80			23		0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4705767	4705767	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4705767G>A	uc009zeh.1	+	7	819	c.777G>A	c.(775-777)caG>caA	p.Q259Q	DYRK4_uc001qmx.3_Silent_p.Q144Q|DYRK4_uc001qmy.2_Silent_p.Q144Q|DYRK4_uc021qtq.1_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	144	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTCACCAGCAGGCCCTGATGG	0.522000														24			17		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150948210	150948210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:150948210G>A	uc003lue.4	-	0	296	c.283C>T	c.(283-285)Cta>Tta	p.L95L	FAT2_uc010jhx.1_Silent_p.L95L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	95	Cadherin 1.				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)			CTTATTCTTAGGAAGCAGAAG	0.512000														322			41		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027662	37027662	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:37027662G>A	uc004ddl.2	+	0	1231	c.1179G>A	c.(1177-1179)gaG>gaA	p.E393E		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	393								p.P392A(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCGCCCAGAGACCCCCAAGA	0.607000														34			41		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155222375	155222375	+	Missense_Mutation	SNP	C	T	T	rs149590749	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:155222375C>T	uc021xge.1	-	11	1914	c.1637G>A	c.(1636-1638)cGa>cAa	p.R546Q	PLCH1_uc021xgd.1_Missense_Mutation_p.R546Q|PLCH1_uc021xgf.1_Missense_Mutation_p.R528Q	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	546					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATGAGGGATCGTCCATGTGA	0.313000														68			23		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757193	56757193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56757193G>A	uc010rjp.2	+	0	805	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E269K(2)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TAATTCCCAGGAAAATATGAA	0.353000														59			30		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958002	121958002	+	Missense_Mutation	SNP	G	A	A	rs143734180	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:121958002G>A	uc003idq.1	-	3	1651	c.1124C>T	c.(1123-1125)aCc>aTc	p.T375I		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	375										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AATAAAGAAGGTGACTTTTTG	0.418000														119			44		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684591	100684591	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100684591G>A	uc003uxp.1	+	2	9947	c.9894G>A	c.(9892-9894)acG>acA	p.T3298T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3298	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTTCTGAAACGAGCACCCTTT	0.507000														514			252		0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88926235	88926235	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:88926235G>A	uc001tav.3	-	2	370	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	KITLG_uc001taw.3_Missense_Mutation_p.P59S|KITLG_uc009zso.1_Non-coding_Transcript	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	59					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	p.P59P(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TCCATCCCGGGGACATATTTG	0.328000									Testicular Cancer, Familial Clustering of					116			39		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26176114	26176114	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26176114G>A	uc003abz.1	+	8	2410	c.2160G>A	c.(2158-2160)gtG>gtA	p.V720V	MYO18B_uc003aca.1_Silent_p.V601V|MYO18B_uc010guy.1_Silent_p.V601V|MYO18B_uc010guz.1_Silent_p.V601V|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Silent_p.V233V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	720	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						TCTCCATGGTGATGTCGCTGG	0.642000														17			6		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6091063	6091063	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:6091063G>A	uc002wmr.3	-	4	1417	c.628C>T	c.(628-630)Cct>Tct	p.P210S	FERMT1_uc010gbt.3_Intron|FERMT1_uc002wms.3_Missense_Mutation_p.P210S|FERMT1_uc002wmt.3_5'Flank	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	210	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TCCGTCAAAGGGCTGTCACTG	0.498000														81			43		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179604914	179604914	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179604914C>T	uc010pnp.2	+	8	1930	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	TDRD5_uc021pfm.1_Missense_Mutation_p.S471F|TDRD5_uc001gnf.2_Missense_Mutation_p.S471F|TDRD5_uc021pfn.1_Missense_Mutation_p.S471F|TDRD5_uc001gnh.2_Missense_Mutation_p.S26F	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	471					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GACACCAGTTCCCTCATAGGG	0.453000														70			21		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10223741	10223741	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10223741C>T	uc002gmk.1	-	24	3274	c.3184G>A	c.(3184-3186)Gat>Aat	p.D1062N	MYH13_uc010vve.1_Intron	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1062					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATTTTCAGATCTCCTTCCAGC	0.423000														7			7		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107710318	107710318	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107710318G>A	uc010ljo.1	-	17	2221	c.2137C>T	c.(2137-2139)Ccc>Tcc	p.P713S	LAMB4_uc003vey.2_Missense_Mutation_p.P713S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	713	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTGATTTGGGGAATAAGGCCA	0.358000														69			28		0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182763211	182763211	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:182763211C>T	uc003fle.3	-	9	1210	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	MCCC1_uc010hxi.3_Non-coding_Transcript|MCCC1_uc011bqo.2_Non-coding_Transcript|MCCC1_uc003flf.3_Nonsense_Mutation_p.W241*|MCCC1_uc003flg.3_Nonsense_Mutation_p.W249*|MCCC1_uc011bqp.1_Nonsense_Mutation_p.W311*|MCCC1_uc011bqq.1_Nonsense_Mutation_p.W249*	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	358	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TCTAAGCTGCCACTCCACCAA	0.458000														82			27		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65489842	65489842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65489842G>A	uc002aon.2	-	8	2963	c.2782C>T	c.(2782-2784)Ccc>Tcc	p.P928S		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	928					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.P928T(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCGTTGAAGGGGACTGTGTTG	0.522000														154			25		0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23965900	23965900	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:23965900C>T	uc002wts.3	-	5	764	c.631G>A	c.(631-633)Gca>Aca	p.A211T	GGTLC1_uc002wtu.3_Missense_Mutation_p.A211T	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	211							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GAGGCAGCTGCCCAGCCACCA	0.592000														76			27		0	0	1	0	0
OCM2	4951	broad.mit.edu	37	7	97617821	97617821	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:97617821G>A	uc003upc.3	-	1	101	c.101C>T	c.(100-102)tCa>tTa	p.S34L		NM_006188	NP_006179	P0CE71	OCM2_HUMAN	Homo sapiens oncomodulin 2 (OCM2), mRNA.	34							calcium ion binding			lung(4)	4						GGAGAGGCCTGACGTCTGGAA	0.463000														205			90		0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109797285	109797285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:109797285G>A	uc003ymy.1	-	1	148	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Missense_Mutation_p.L15F	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	15					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GCATCACAGAGGTCTGCCTGG	0.547000														53			14		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41062004	41062005	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41062004_41062005GG>AA	uc002ony.3	+	24	5185_5186	c.5099_5100GG>AA	c.(5098-5100)cgg>cAA	p.R1700Q	SPTBN4_uc002onx.3_Missense_Mutation_p.R1700Q|SPTBN4_uc002onz.3_Missense_Mutation_p.R1700Q|SPTBN4_uc010egx.3_Missense_Mutation_p.R443Q|SPTBN4_uc002ooa.3_Missense_Mutation_p.R376Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1700					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGATCAGCCGGCGGCAGTCTC	0.663000														23			4		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451427	55451427	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55451427C>T	uc002qih.4	-	3	836	c.760G>A	c.(760-762)Ggc>Agc	p.G254S	NLRP7_uc010esk.3_Missense_Mutation_p.G254S|NLRP7_uc002qig.4_Missense_Mutation_p.G254S|NLRP7_uc002qii.4_Missense_Mutation_p.G254S|NLRP7_uc010esl.3_Missense_Mutation_p.G282S	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	254	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCATCAAGGCCATCGACCACG	0.562000														106			43		0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23299893	23299893	+	RNA	SNP	G	A	A	rs35384974		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:23299893G>A	uc002nrb.1	+	0		c.117G>A								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TCTGCACGTAGAAGCCCAGCC	0.612000														53			26		0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40027429	40027429	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:40027429G>A	uc001cdl.2	-	14	2822	c.1924C>T	c.(1924-1926)Cat>Tat	p.H642Y	PPIEL_uc001cdk.3_5'Flank|PABPC4_uc010oiv.1_Missense_Mutation_p.H626Y|PABPC4_uc001cdm.2_Missense_Mutation_p.H613Y	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	626					RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTGGCATGATGAGCCTGTAGA	0.502000														59			19		0	0	1	0	0
E2F1	1869	broad.mit.edu	37	20	32264549	32264549	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:32264549G>A	uc002wzu.4	-	6	1443	c.1303C>T	c.(1303-1305)Ctg>Ttg	p.L435L	NECAB3_uc002wzm.4_5'Flank|NECAB3_uc002wzn.4_5'Flank|NECAB3_uc002wzo.4_5'Flank	NM_005225	NP_005216	Q01094	E2F1_HUMAN	Homo sapiens E2F transcription factor 1 (E2F1), mRNA.	435	Transactivation.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|apoptosis|cell proliferation|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	Rb-E2F complex|mitochondrion	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						CAGAAATCCAGGGGGGTGAGG	0.642000														14			3		0	0	1	0	0
DGAT2	84649	broad.mit.edu	37	11	75508211	75508211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:75508211C>T	uc001oxa.3	+	5	902	c.643C>T	c.(643-645)Cct>Tct	p.P215S	DGAT2_uc001oxb.3_Missense_Mutation_p.P172S	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA.	215					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					AGGTATCTGCCCTGTCAGCCG	0.542000														101			47		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15299893	15299893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15299893C>T	uc002nan.3	-	7	1361	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	NOTCH3_uc002nao.1_Missense_Mutation_p.E429K	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	429	EGF-like 10; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACATCGGTCTCACAGCGAGGT	0.642000														59			25		0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207307839	207307839	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207307839G>A	uc001hfo.3	+	8	1369	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	392	Sushi 6.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TATTTCTATGGAGATGAGATT	0.423000														133			43		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2659715	2659715	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2659715G>A	uc009zdy.1	+	3	374	c.362G>A	c.(361-363)gGa>gAa	p.G121E	CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Intron|CACNA1C_uc001qkj.2_Intron|CACNA1C_uc001qkk.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Intron|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc009zdu.1_Intron|CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc001qkv.1_Intron			Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 14, mRNA.	494					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCCAGTAAGGGAAGCAGAAGT	0.532000														22			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9000453	9000453	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9000453G>A	uc002mkp.3	-	53	40735	c.40531C>T	c.(40531-40533)Ctt>Ttt	p.L13511F	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.L328F|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13513	SEA 10.				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						AGACCCTGAAGGACTCTCTCC	0.488000														75			21		0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168621	142168621	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142168621T>A	uc011kry.1	-	1	268	c.102A>T	c.(100-102)agA>agT	p.R34S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|TRBV5-4_uc022anj.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		CTTGCTGTCCTCTCGTTTTGA	0.547000														84			20		0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100847882	100847882	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:100847882C>T	uc010avx.3	+	1	714	c.621C>T	c.(619-621)gcC>gcT	p.A207A	WDR25_uc001yhn.3_Silent_p.A207A|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_5'Flank|WDR25_uc021sbq.1_Silent_p.A199A	NM_001161476	NP_078791	Q64LD2	WDR25_HUMAN	Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA.	207										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CAGGGCGTGCCCCAGCCCCTC	0.547000														100			40		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046780	73046780	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73046780C>T	uc004ebn.2	+	0		c.34741C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CCAACTCAGGCCTTCGGTCCA	0.493000														23			27		0	0	1	0	0
IFNA21	3452	broad.mit.edu	37	9	21166595	21166595	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21166595G>A	uc003zom.2	-	0	65	c.17C>T	c.(16-18)tCt>tTt	p.S6F		NM_002175	NP_002166	P01568	IFN21_HUMAN	Homo sapiens interferon, alpha 21 (IFNA21), mRNA.	6					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CATCAGTAAAGAAAAGGACAG	0.498000														65			25		0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60506800	60506800	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:60506800G>A	uc001czs.2	-	3	454	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	116							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCTTGACTGGGAATCTTAACA	0.458000														23			14		0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664531	5664531	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5664531G>A	uc001mbh.3	+	7	1216	c.1059G>A	c.(1057-1059)gtG>gtA	p.V353V	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Silent_p.V707V|TRIM6-TRIM34_uc001mbi.3_Silent_p.V353V|TRIM6-TRIM34_uc009yer.3_Intron	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	707						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		ACTGGGAAGTGGACGTGTCCA	0.418000														51			18		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132201188	132201188	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:132201188C>T	uc002tst.2	-	0	1280	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		TGGAGGGCTTCGCTGGGGCCC	0.572000														24			15		0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409764	69409764	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:69409764C>T	uc002sfg.3	+	15	1681	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	442					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	p.S442S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CGGCCTTCTTCCCCCCGGAAG	0.423000									Familial Infantile Hemangioma					83			27		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034117	52034117	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52034117C>T	uc002pwy.3	-	2	732	c.524G>A	c.(523-525)gGg>gAg	p.G175E	SIGLEC6_uc002pwz.3_Missense_Mutation_p.G175E|SIGLEC6_uc010ydb.2_Missense_Mutation_p.G139E|SIGLEC6_uc010ydc.2_Missense_Mutation_p.G175E|SIGLEC6_uc002pxa.3_Missense_Mutation_p.G175E|SIGLEC6_uc010eoz.2_Missense_Mutation_p.G164E|SIGLEC6_uc010epa.2_Missense_Mutation_p.G164E|SIGLEC6_uc010epb.2_Missense_Mutation_p.G128E	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	175	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGGGGGCGTCCCCTGCTCACA	0.667000														101			41		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831698	61831698	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61831698C>T	uc001jky.3	-	36	9279	c.8941G>A	c.(8941-8943)Gaa>Aaa	p.E2981K	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.	2981					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						GCCGACTGTTCACAAAAACCA	0.438000														61			28		0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186389428	186389428	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:186389428C>T	uc003fqq.3	+	3	431	c.408C>T	c.(406-408)gcC>gcT	p.A136A		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	136	Cystatin 1.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CAGCACTGGCCAATACCAAAG	0.433000														70			40		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16138400	16138400	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:16138400C>T	uc010bvi.3	+	7	1078	c.903C>T	c.(901-903)atC>atT	p.I301I	ABCC1_uc010bvj.3_Silent_p.I301I|ABCC1_uc010bvk.3_Silent_p.I301I|ABCC1_uc010bvl.3_Silent_p.I301I|ABCC1_uc010bvm.3_Silent_p.I301I|ABCC1_uc002del.4_Silent_p.I185I|ABCC1_uc010bvn.3_Silent_p.I164I	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	301					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGGCTTTGATCGTCAAGTCCC	0.532000														62			24		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043470	20043470	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20043470G>A	uc002dgu.1	-	1	811	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	GPR139_uc010vaw.1_Missense_Mutation_p.R124C	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	217						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CCACGGAGACGAAAATTGCTC	0.507000														70			21		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140744773	140744773	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140744773C>T	uc003lju.2	+	0	876	c.876C>T	c.(874-876)ttC>ttT	p.F292F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.F292F	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	293	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)			CGGAGACTTTCCAACTTGATT	0.463000														36			12		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44803639	44803639	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44803639C>T	uc002xrm.2	-	10	2392	c.1993G>A	c.(1993-1995)Gac>Aac	p.D665N	CDH22_uc010ghk.1_Missense_Mutation_p.D665N	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	665					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ATGACGTTGTCCCGCATGTCT	0.627000														46			15		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578102	9578102	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9578102C>T	uc002mlp.1	-	9	1731	c.1521G>A	c.(1519-1521)ttG>ttA	p.L507L	ZNF560_uc010dwr.1_Silent_p.L401L	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGTGAGTTCTCAAATGAGCAA	0.408000														102			43		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10140504	10140504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10140504C>T	uc003buw.3	+	42	4364	c.4286C>T	c.(4285-4287)tCt>tTt	p.S1429F	FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc010hcw.1_Intron|C3orf24_uc003buz.3_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	1429					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ACTGAGGTATCTCTACAAAAC	0.448000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					68			32		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101813497	101813497	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:101813497G>A	uc003knn.3	-	2	857	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Silent_p.L229L|SLCO6A1_uc003knq.3_Intron	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	229						integral to membrane|plasma membrane	transporter activity	p.L229Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAGAAAGACAGGTATTTTGAT	0.363000														160			39		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544344	82544344	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82544344C>T	uc003uhx.2	-	6	13247	c.12958G>A	c.(12958-12960)Gag>Aag	p.E4320K	PCLO_uc003uhv.2_Missense_Mutation_p.E4320K|PCLO_uc010lec.3_Missense_Mutation_p.E1285K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4251					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						GCTTCAGCCTCTTGAGCTTTC	0.443000														28			14		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196659107	196659107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196659107C>T	uc002utj.4	-	56	10772	c.10671G>A	c.(10669-10671)atG>atA	p.M3557I	DNAH7_uc002uti.4_Missense_Mutation_p.M40I	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3557	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGATCGGGTCCATGAGGTATG	0.458000														109			45		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96944880	96944880	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:96944880G>A	uc001yfn.2	+	14	1678	c.1634G>A	c.(1633-1635)gGg>gAg	p.G545E		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	545					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)		ATCGTGGCGGGGACCCACTAC	0.502000														75			27		0	0	1	0	0
PODXL2	50512	broad.mit.edu	37	3	127358154	127358154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:127358154C>T	uc003ejq.2	+	1	161	c.137C>T	c.(136-138)tCc>tTc	p.S46F		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	Homo sapiens podocalyxin-like 2 (PODXL2), mRNA.	46					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						ACCTCCACCTCCCTGCTAGAC	0.642000														54			18		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110833706	110833706	+	Missense_Mutation	SNP	G	A	A	rs150129180	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:110833706G>A	uc001vqw.4	-	28	2248	c.2126C>T	c.(2125-2127)cCa>cTa	p.P709L		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	709	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGTCCCCGGTGGCCCCATGTC	0.507000														22			11		0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57270922	57270922	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:57270922G>A	uc001xcq.3	-	3	531	c.257C>T	c.(256-258)cCc>cTc	p.P86L	OTX2_uc001xcp.3_Missense_Mutation_p.P78L|OTX2_uc021rtm.1_Intron|OTX2_uc010aou.3_Missense_Mutation_p.P78L	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	78					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CCTCGACTCGGGCAAGTTGAT	0.567000														58			12		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79025987	79025987	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:79025987G>A	uc003kgc.3	+	1	1471	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	467						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAAGGGCAGAACCAGTCTC	0.512000														116			38		0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52569430	52569430	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52569430G>A	uc010ydh.1	-	6	2165	c.1705C>T	c.(1705-1707)Ctc>Ttc	p.L569F	ZNF841_uc002pyl.1_Missense_Mutation_p.L453F	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TTACAATGGAGAGGTTTCTCT	0.403000														68			19		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111850537	111850537	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:111850537G>A	uc010yxk.1	+	16	1760	c.1536G>A	c.(1534-1536)agG>agA	p.R512R	ACOXL_uc021vmm.1_Silent_p.R365R|ACOXL_uc021vmn.1_Silent_p.R335R	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	542				C -> R (in Ref. 4; BAA91970).	fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CGAGGATCAGGAATCAGGTAA	0.458000														54			26		0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142405204	142405204	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:142405204C>T	uc010huv.3	+	8	1126	c.967C>T	c.(967-969)Ctt>Ttt	p.L323F	PLS1_uc003euz.3_Missense_Mutation_p.L323F|PLS1_uc003eva.3_Missense_Mutation_p.L323F	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	323	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TGCCATTGACCTTTCAGGAAT	0.348000														118			28		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719243	140719243	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140719243G>A	uc003ljk.2	+	0	890	c.705G>A	c.(703-705)gcG>gcA	p.A235A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.A235A	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	235	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A235A(2)		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)			TCCTGGATGCGAACGACAATG	0.592000														82			28		0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79629664	79629664	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:79629664C>A	uc003ybd.3	+	8	1016	c.914C>A	c.(913-915)aCt>aAt	p.T305N		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	Homo sapiens family with sequence similarity 164, member A (FAM164A), mRNA.	305																	GAGTGTGGGACTAAATACCCT	0.388000														131			58		2.60599e-31	2.62188e-31	1	1	0
TTN	7273	broad.mit.edu	37	2	179594268	179594268	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179594268C>T	uc021vsy.1	-	60	15108	c.14883G>A	c.(14881-14883)ctG>ctA	p.L4961L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L1622L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5888	Ig-like 30.						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)			CCACAGGCTTCAGCTCTCTGA	0.463000														98			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181539	140181539	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140181539G>A	uc003lhf.2	+	0	757	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.E253K	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	268	Cadherin 2.				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)			CAGATTACTCGAAAATGCACC	0.443000														53			24		0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95496819	95496819	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:95496819C>T	uc003hti.3	+	4	495	c.344C>T	c.(343-345)tCc>tTc	p.S115F	PDLIM5_uc003htf.3_Intron|PDLIM5_uc003htg.3_Intron|PDLIM5_uc011cdx.1_Intron|PDLIM5_uc003htj.3_Intron|PDLIM5_uc003htk.3_Intron|PDLIM5_uc011cdy.2_5'UTR|PDLIM5_uc003hth.3_Intron	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	115					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CCTGCTGTGTCCAAAGTCACT	0.428000														139			52		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81706230	81706230	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81706230C>T	uc001kbh.3	-	1	229	c.186G>A	c.(184-186)gaG>gaA	p.E62E		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	62	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GGTCCCCCTTCTCGCCCCGAG	0.602000														47			24		0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145894735	145894735	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:145894735C>T	uc003lod.1	-	0	942	c.942G>A	c.(940-942)agG>agA	p.R314R		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	314						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAAGCCTTCCCTGAACTCTT	0.468000														45			10		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119954500	119954500	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:119954500G>A	uc001txe.3	+	7	1421	c.956G>A	c.(955-957)aGa>aAa	p.R319K	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	319										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGGATGCAAAGAAAAGCACCC	0.448000														40			12		0	0	1	0	0
C11orf92	399948	broad.mit.edu	37	11	111166744	111166744	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:111166744C>T	uc001pld.3	-	1		c.2869G>A			C11orf92_uc001ple.3_Non-coding_Transcript					Homo sapiens chromosome 11 open reading frame 92 (C11orf92), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(1)	3						AAAGATCCTCCCTTACTTCCA	0.458000														22			9		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233397849	233397849	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233397849G>A	uc001hvl.2	-	2	657	c.422C>T	c.(421-423)cCc>cTc	p.P141L	PCNXL2_uc009xfu.3_5'Flank|PCNXL2_uc009xfv.1_5'Flank	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	141						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)				GCAGCGGAGGGGAGGCGTGGA	0.488000														163			16		0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70514339	70514339	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:70514339C>T	uc001vip.3	-	3	1641	c.847G>A	c.(847-849)Gag>Aag	p.E283K	KLHL1_uc010thm.2_Missense_Mutation_p.E222K	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	283					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGAAGGTTCTCAATGGTGTCC	0.393000														27			13		0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7966949	7966949	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7966949C>T	uc010sgh.2	-	9	1592	c.1571G>A	c.(1570-1572)aGc>aAc	p.S524N	SLC2A14_uc001qtk.3_Missense_Mutation_p.S509N|SLC2A14_uc001qtl.3_Missense_Mutation_p.S486N|SLC2A14_uc001qtm.3_Missense_Mutation_p.S486N|SLC2A14_uc010sgg.2_Missense_Mutation_p.S400N|SLC2A14_uc001qtn.3_Missense_Mutation_p.S509N|SLC2A14_uc001qto.3_Missense_Mutation_p.S144N	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	509					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AGGCTCGATGCTGTTCATCCC	0.577000														276			31		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409179	105409179	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105409179C>T	uc010axc.1	-	6	12729	c.12609G>A	c.(12607-12609)gaG>gaA	p.E4203E	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.E4103E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4203						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCAGGGGGCCCTCCGGGAGTT	0.652000														190			81		0	0	1	0	0
LCP2	3937	broad.mit.edu	37	5	169720347	169720347	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:169720347C>T	uc003man.1	-	1	315	c.108G>A	c.(106-108)gtG>gtA	p.V36V	LCP2_uc011det.1_5'UTR	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA.	36	SAM.				T cell receptor signaling pathway|immune response|platelet activation|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGTACTTCTTCACTGCCTTCT	0.522000														15			10		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166658	19166658	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:19166658G>A	uc001bba.1	-	5	1956	c.1955C>T	c.(1954-1956)tCt>tTt	p.S652F		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	652					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GATCTGGAAAGAACGCACGGC	0.617000														114			55		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3658762	3658762	+	Silent	SNP	C	T	T	rs146442815		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:3658762C>T	uc003smx.3	+	1	488	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	117	Ig-like C2-type 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACAGATCCACCTGGAAGGGAA	0.473000														24			12		0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86392931	86392931	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:86392931G>A	uc003ydk.2	+	6	876	c.696G>A	c.(694-696)ggG>ggA	p.G232G	CA2_uc022axe.1_Non-coding_Transcript	NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	232					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	ACTTCAATGGGGAGGGTGAAC	0.393000														45			23		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70303932	70303932	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:70303932G>A	uc001dep.3	+	4	529	c.499G>A	c.(499-501)Gag>Aag	p.E167K	LRRC7_uc001deo.1_Missense_Mutation_p.E205K|LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	167						centrosome|focal adhesion|nucleolus	protein binding	p.L166L(1)		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						GCGGATCTTGGAGTTAAGAGA	0.289000														45			8		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10602129	10602129	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:10602129C>T	uc010rcc.1	-	19	2754	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Missense_Mutation_p.E782K|MRVI1_uc001miw.2_Missense_Mutation_p.E781K|MRVI1_uc001mix.3_Missense_Mutation_p.E475K|MRVI1_uc001miz.2_Missense_Mutation_p.E699K|MRVI1_uc010rcd.1_Missense_Mutation_p.E584K|MRVI1_uc009ygd.1_Missense_Mutation_p.E475K	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	763	Glu-rich.				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTTAGACCTTCTTGGAATCTG	0.498000														107			14		0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118351390	118351390	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:118351390G>C	uc001lco.1	+	2	175	c.157G>C	c.(157-159)Ggc>Cgc	p.G53R	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.G53R|PNLIPRP1_uc001lcn.3_Missense_Mutation_p.G53R|PNLIPRP1_uc009xys.1_Non-coding_Transcript	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	53					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TGAGAAGATCGGCACCCGCTT	0.532000														156			19		0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136537829	136537829	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136537829C>T	uc002tur.3	+	11	1573	c.1262C>T	c.(1261-1263)cCa>cTa	p.P421L	UBXN4_uc002tus.3_Missense_Mutation_p.P187L|UBXN4_uc002tut.3_Missense_Mutation_p.P57L	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	Homo sapiens UBX domain protein 4 (UBXN4), mRNA.	421					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	p.P421S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GTGCTTTATCCATTCCTTGCC	0.438000														121			45		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155250772	155250772	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155250772C>T	uc003inw.2	-	10	2456	c.2456G>A	c.(2455-2457)cGa>cAa	p.R819Q	DCHS2_uc003inx.2_Missense_Mutation_p.R1274Q	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	819	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGTGGCGTTTCGTGGTGGGGA	0.542000														41			22		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180727	142180727	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142180727C>T	uc011krz.2	-	1	181	c.132G>A	c.(130-132)caG>caA	p.Q44Q	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Silent_p.Q44Q|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GGTTCATATCCTGGGCACACT	0.512000														465			29		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236212147	236212147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:236212147C>T	uc001hxo.3	-	1	470	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	NID1_uc009xgd.3_Missense_Mutation_p.R123Q	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	123	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TAAGTCTTCTCGATAATAAAC	0.567000														66			22		0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2049525	2049525	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2049525G>A	uc002cof.1	-	10	2040	c.2025C>T	c.(2023-2025)ccC>ccT	p.P675P	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_Silent_p.P39P	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	675	Pro-rich.					intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGGGTGGGCAGGGGCCGCCGA	0.751000														13			4		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141128297	141128297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141128297C>T	uc002tvj.1	-	70	11962	c.10990G>A	c.(10990-10992)Gaa>Aaa	p.E3664K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3664	LDL-receptor class A 29.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTTCTCTTCATCACTGCCA	0.393000										TSP Lung(27;0.18)				229			111		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559734	140559734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140559734C>T	uc011dai.2	+	0	2364	c.2119C>T	c.(2119-2121)Ctc>Ttc	p.L707F	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	707					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCTCGGTGCTCCTGTTCGT	0.672000														200			46		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40033909	40033909	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:40033909G>A	uc002xka.1	-	36	7650	c.7472C>T	c.(7471-7473)cCc>cTc	p.P2491L	CHD6_uc002xjz.1_Missense_Mutation_p.P28L	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2491					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCCGGTGAGGGGGATGCCTGG	0.562000														91			8		0	0	1	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285506	248285506	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248285506C>T	uc001idy.1	+	0	69	c.69C>T	c.(67-69)tcC>tcT	p.S23S						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		GCAGCAAGTCCATTTCTATGG	0.488000														298			95		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96781867	96781867	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:96781867G>T	uc001yfi.3	-	21	3780	c.3415C>A	c.(3415-3417)Cgc>Agc	p.R1139S		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1139										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAGTGTGGGCGGGTTGAGCTG	0.428000														43			8		3.09899e-07	3.10599e-07	1	1	0
COX4I1	1327	broad.mit.edu	37	16	85840354	85840354	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:85840354C>T	uc002fje.3	+	4	571	c.384C>T	c.(382-384)ccC>ccT	p.P128P	COX4I1_uc002fjf.3_3'UTR	NM_001861	NP_001852	P13073	COX41_HUMAN	Homo sapiens cytochrome c oxidase subunit IV isoform 1 (COX4I1), nuclear gene encoding mitochondrial protein, mRNA.	128					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				TGTACGGCCCCCTCCCGCAAA	0.542000														64			22		0	0	1	0	0
CBLN4	140689	broad.mit.edu	37	20	54579090	54579090	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:54579090C>T	uc002xxa.3	-	0	923	c.138G>A	c.(136-138)tcG>tcA	p.S46S		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	46						cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TGGCCGGGTTCGAGTCGCACA	0.687000														46			10		0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51122405	51122405	+	Silent	SNP	C	T	T	rs61745502	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51122405C>T	uc001rwv.3	+	29	3741	c.3585C>T	c.(3583-3585)atC>atT	p.I1195I	DIP2B_uc009zlt.3_Silent_p.I625I	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	1195						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTCGGCAGATCGCCATCTGCC	0.527000														61			7		0	0	1	0	0
ERP27	121506	broad.mit.edu	37	12	15090925	15090925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:15090925G>A	uc001rco.3	-	1	177	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA.	52	Thioredoxin.		F -> L (in dbSNP:rs35030722).			endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TGGCAGCAATGAATTCCATGG	0.522000														154			12		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53007517	53007517	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53007517G>A	uc001sas.3	-	4	974	c.939C>T	c.(937-939)atC>atT	p.I313I		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	313	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTTCCGGGCGATCTCCTCAT	0.597000														82			33		0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21469372	21469372	+	Nonsense_Mutation	SNP	C	T	T	rs1042848		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:21469372C>T	uc003sva.3	+	2	770	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	SP4_uc003svb.3_5'UTR	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	197			Q -> K (in dbSNP:rs1042848).		regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GGGTCAAATTCAGCTCATTTC	0.408000														89			39		0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116758449	116758449	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:116758449C>T	uc011ebg.2	+	5	2974	c.2875C>T	c.(2875-2877)Ctc>Ttc	p.L959F	DSE_uc003pws.3_Missense_Mutation_p.L940F|DSE_uc003pwt.3_Missense_Mutation_p.L940F|DSE_uc003pwu.3_Missense_Mutation_p.L607F	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	940					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TGCAGTTCTTCTCATAGATAG	0.388000														56			18		0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681681	55681681	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55681681G>A	uc010rir.2	-	0	378	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGGGGTTGATGATGGCCTTGT	0.458000														49			29		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138208520	138208520	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:138208520T>C	uc002tva.1	+	13	2972	c.2972T>C	c.(2971-2973)aTt>aCt	p.I991T	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGAGTGAGAATTCGATCCAAA	0.403000														16			8		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415927	86415927	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:86415927C>T	uc003uid.3	+	2	1918	c.819C>T	c.(817-819)gtC>gtT	p.V273V	GRM3_uc010lef.3_Silent_p.V271V|GRM3_uc010leg.3_Silent_p.V145V|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	273					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)	GCGTCGTGGTCCTCTTCATGC	0.672000														74			8		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83610752	83610752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:83610752G>A	uc003uhz.3	-	13	1852	c.1537C>T	c.(1537-1539)Cct>Tct	p.P513S		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	513	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CGGTGTAAAGGGAGCTGGGCA	0.463000														50			6		0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100235830	100235830	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:100235830C>T	uc004axj.3	+	10	2226	c.2001C>T	c.(1999-2001)ctC>ctT	p.L667L	TDRD7_uc011lux.2_Silent_p.L593L|TDRD7_uc010msp.1_5'UTR|TDRD7_uc011luy.2_Silent_p.L16L	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	667					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATGGGACACTCTACTGCCAGG	0.438000														183			13		0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48220020	48220020	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:48220020G>A	uc002phj.4	+	1	401	c.151G>A	c.(151-153)Gag>Aag	p.E51K	EHD2_uc010xyu.2_Intron	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	51					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GCCGGCCCTGGAGGACGCAGA	0.662000														25			11		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3721927	3721927	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:3721927G>A	uc001lyh.3	-	23	4076	c.3655C>T	c.(3655-3657)Ctc>Ttc	p.L1219F	NUP98_uc001lyi.3_Missense_Mutation_p.L1219F|NUP98_uc001lyg.3_Missense_Mutation_p.L184F	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1236					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GGGACAATGAGAGGACACAGT	0.423000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									57			14		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52177838	52177838	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:52177838G>A	uc003jou.3	+	6	1172	c.758G>A	c.(757-759)gGa>gAa	p.G253E	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	253	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ACAGCTCTTGGAATAGACACA	0.378000														27			5		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466553	56466553	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56466553G>A	uc002qmh.3	+	2	1200	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	NLRP8_uc010etg.3_Missense_Mutation_p.D377N	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	377	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGAGGAGGGAGACCAAGTCTT	0.478000														103			27		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537337	5537337	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5537337G>A	uc001maz.4	-	0	620	c.335C>T	c.(334-336)tCc>tTc	p.S112F	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	112										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GTCCCGGAAGGAATGGGCTAG	0.537000														70			19		0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24874210	24874210	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:24874210C>T	uc003sxf.3	-	14	2046	c.1641G>A	c.(1639-1641)gtG>gtA	p.V547V	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Silent_p.V511V|OSBPL3_uc003sxh.3_Silent_p.V516V|OSBPL3_uc003sxi.3_Silent_p.V480V|OSBPL3_uc003sxj.1_Silent_p.V276V|OSBPL3_uc003sxk.1_Silent_p.V245V	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	547					lipid transport		lipid binding|protein binding	p.P546P(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CGTTCAGCTCCACCGGCATGG	0.637000														56			26		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1653404	1653404	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1653404G>A	uc002qxa.3	-	16	2212	c.2148C>T	c.(2146-2148)ctC>ctT	p.L716L		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	716					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.N715K(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGTTTGCGATGAGGTTCAGGT	0.582000														86			10		0	0	1	0	0
ZNF625	90589	broad.mit.edu	37	19	12256752	12256753	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12256752_12256753CC>TT	uc010dyo.2	-	3	651_652	c.478_479GG>AA	c.(478-480)ggg>AAg	p.G160K	ZNF20_uc002mtg.2_Intron|ZNF625_uc010dyn.2_Non-coding_Transcript|ZNF625_uc002mth.3_Missense_Mutation_p.G94K|ZNF625_uc021upn.1_Missense_Mutation_p.G94K	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	Homo sapiens zinc finger protein 625 (ZNF625), transcript variant 1, mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						ATAAGGTTTCCCCCCAGTGTGA	0.426000														146			19		0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53823694	53823694	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53823694G>A	uc001scx.2	+	8	1300	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q	AMHR2_uc009zmy.2_Missense_Mutation_p.R407Q|AMHR2_uc021qyg.1_Intron	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	407	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	p.R407*(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCCCTCCGACGAGCTGATATT	0.582000														52			19		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533858	92533858	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92533858G>A	uc001pdj.4	+	8	7696	c.7679G>A	c.(7678-7680)cGg>cAg	p.R2560Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2560	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGCTAGACCGGGAAAACCCT	0.473000										TCGA Ovarian(4;0.039)				27			11		0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151894528	151894528	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:151894528G>A	uc003qol.3	+	5	1083	c.994G>A	c.(994-996)Gcc>Acc	p.A332T		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	332																	GAAAATCGCAGCCCTCCTTAG	0.502000														33			26		0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100433464	100433464	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:100433464G>A	uc001tgq.3	-	19	4414	c.4185C>T	c.(4183-4185)gtC>gtT	p.V1395V	UHRF1BP1L_uc001tgp.3_Silent_p.V1045V	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	1395										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGGCTTGCGTGACACTGCGTT	0.458000														55			17		0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4577868	4577868	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:4577868G>A	uc002fyi.4	-	12	1745	c.1519C>T	c.(1519-1521)Ccg>Tcg	p.P507S	PELP1_uc010vsf.2_Missense_Mutation_p.P360S	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	507					transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TGGCTTGGCGGGGCCATAGCT	0.642000														26			7		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451527	38451527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38451527C>T	uc003jlc.2	+	19	3024	c.2678C>T	c.(2677-2679)tCc>tTc	p.S893F	EGFLAM_uc003jlb.2_Missense_Mutation_p.S885F|EGFLAM_uc003jle.2_Missense_Mutation_p.S651F|EGFLAM_uc003jlf.2_Missense_Mutation_p.S251F|EGFLAM_uc003jlg.2_Missense_Mutation_p.S28F	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	893	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GACTTCATTTCCTTGGGCCTT	0.517000														102			37		0	0	1	0	0
IFNG	3458	broad.mit.edu	37	12	68552030	68552030	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:68552030G>A	uc001stw.1	-	1	250	c.124C>T	c.(124-126)Cat>Tat	p.H42Y		NM_000619	NP_000610	P01579	IFNG_HUMAN	Homo sapiens interferon, gamma (IFNG), mRNA.	42					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	ACATCTGAATGACCTGCATTC	0.313000														27			12		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133053934	133053935	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133053934_133053935GG>AA	uc003ytg.2	-	2	133_134	c.133_134CC>TT	c.(133-135)ccc>TTc	p.P45F	OC90_uc011lix.1_Missense_Mutation_p.P61F	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	61					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGTGAAGTGGGGGCCCAGGCAA	0.584000														17			9		0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113138932	113138932	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:113138932G>A	uc003ead.2	-	4	569	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	WDR52_uc003eae.2_Silent_p.L168L	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	168										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTCAAATTCAGAAAGATCAGT	0.428000														41			10		0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31852266	31852266	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31852266G>A	uc003nxz.1	-	20	2684	c.2674C>T	c.(2674-2676)Ccc>Tcc	p.P892S	EHMT2_uc003nxx.1_Missense_Mutation_p.P90S|EHMT2_uc003nxy.1_Missense_Mutation_p.P690S|EHMT2_uc011don.1_Missense_Mutation_p.P915S|EHMT2_uc003nya.1_Missense_Mutation_p.P858S	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	892					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GAGCGCTCGGGAGTCAGGTCC	0.602000														109			42		0	0	1	0	0
SPINK4	27290	broad.mit.edu	37	9	33246683	33246683	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:33246683G>A	uc003zsh.3	+	2	183	c.172G>A	c.(172-174)Ggg>Agg	p.G58R		NM_014471	NP_055286	O60575	ISK4_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 4 (SPINK4), mRNA.	58	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity	p.D57H(1)		lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			CGGCACTGATGGGCTCACATA	0.567000														52			23		0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5434069	5434069	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:5434069G>A	uc002kmt.1	-	6	743	c.657C>T	c.(655-657)ccC>ccT	p.P219P	EPB41L3_uc010wzh.1_Silent_p.P219P|EPB41L3_uc002kmu.1_Silent_p.P219P|EPB41L3_uc010dkq.1_Silent_p.P110P|EPB41L3_uc010dks.1_Silent_p.P241P|EPB41L3_uc002kmv.1_Silent_p.P110P	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	219	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CAAAGGAGCAGGGCAGCCTTC	0.527000														94			23		0	0	1	0	0
SOLH	6650	broad.mit.edu	37	16	598008	598008	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:598008C>T	uc002chi.3	+	3	1533	c.1170C>T	c.(1168-1170)agC>agT	p.S390S	SOLH_uc002chh.1_Silent_p.S390S	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	390					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				ACAAGCCCAGCCCCTGCGGCA	0.746000														8			3		0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37398589	37398589	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:37398589G>A	uc002rpu.3	-	5	676	c.655C>T	c.(655-657)Ctt>Ttt	p.L219F	SULT6B1_uc010yni.2_Non-coding_Transcript	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA.	257						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TTGCGGAAAAGGAATGGGCCG	0.463000														115			41		0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155154119	155154119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:155154119C>T	uc003qqa.3	+	20	3638	c.3406C>T	c.(3406-3408)Cct>Tct	p.P1136S	TIAM2_uc003qqb.3_5'UTR|SCAF8_uc011efj.2_Missense_Mutation_p.P1202S|SCAF8_uc011efk.2_Missense_Mutation_p.P1181S|SCAF8_uc003qpz.3_Missense_Mutation_p.P1136S|SCAF8_uc010kji.3_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA.	1136	Arg-rich.				RNA splicing|mRNA processing	nuclear matrix|spliceosomal complex	RNA binding|RNA polymerase core enzyme binding|nucleotide binding	p.G1135D(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TAGAAGTGGTCCTTGGAACCG	0.458000														52			28		0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24681389	24681389	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:24681389G>T	uc003swx.3	+	3	471	c.172G>T	c.(172-174)Gaa>Taa	p.E58*	MPP6_uc003swy.3_Nonsense_Mutation_p.E58*	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	58	L27 2.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CAATAACTTGGAATTAGTCAA	0.338000														79			32		2.08457e-15	2.09431e-15	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30935936	30935937	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:30935936_30935937GG>AA	uc002nsu.1	+	1	1605_1606	c.1467_1468GG>AA	c.(1465-1470)ctggga>ctAAga	p.G490R	ZNF536_uc010edd.1_Missense_Mutation_p.G490R	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L489L(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACTCCCTCCTGGGATGCCTCAA	0.658000														54			26		0	0	1	0	0
FAM86B1	85002	broad.mit.edu	37	8	12044027	12044027	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:12044027C>T	uc010lse.3	-	4	519	c.474G>A	c.(472-474)cgG>cgA	p.R158R	LOC100506990_uc011kxp.1_Intron|FAM86B1_uc003wvf.4_Intron|FAM86B1_uc010lsd.3_Intron|FAM86B1_uc003wvh.4_Intron|FAM86B1_uc003wvi.4_Intron|FAM86B1_uc010lsf.3_Intron|FAM86B1_uc010lsg.3_Intron|FAM86B1_uc003wvl.4_Intron|FAM86B1_uc011kxq.2_Intron	NM_001083537	NP_001077006	Q8N7N1	F86B1_HUMAN	Homo sapiens family with sequence similarity 86, member B1 (FAM86B1), transcript variant 1, mRNA.	158										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		GCTCGAGGACCCGGCTGTGAG	0.612000														44			12		0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234460143	234460143	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234460143G>A	uc010zmr.2	-	5	752	c.752C>T	c.(751-753)cCt>cTt	p.P251L	USP40_uc010zmt.1_5'Flank|USP40_uc010zmu.1_Missense_Mutation_p.P239L	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	239					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAGAAAAGGAGGCAGCTTACG	0.318000														12			4		0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	609451	609451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:609451C>T	uc001lqe.3	+	13	4126	c.3995C>T	c.(3994-3996)tCg>tTg	p.S1332L	PHRF1_uc010qwc.2_Missense_Mutation_p.S1331L|PHRF1_uc010qwd.2_Missense_Mutation_p.S1330L|PHRF1_uc010qwe.2_Missense_Mutation_p.S1328L|PHRF1_uc009ybz.1_Missense_Mutation_p.S1122L|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	1332							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAAGACCCTTCGCAGCCCCCA	0.672000														26			6		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120032	103120032	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103120032C>T	uc002tbz.4	+	2	1303	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	282					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						TGTTTGGCATCGTTTTTGGAT	0.398000														51			21		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7675818	7675818	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7675818G>A	uc002mgu.4	+	10	1231	c.1130_splice	c.e10+1	p.S377_splice	CAMSAP3_uc002mgv.4_Splice_Site_p.S350_splice	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	350					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCGGCAGTAGGTACGCTCCCC	0.642000														77			23		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52539139	52539139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:52539139G>A	uc001vfw.2	-	4	1895	c.1738C>T	c.(1738-1740)Cac>Tac	p.H580Y	ATP7B_uc001vfy.2_Missense_Mutation_p.H469Y|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.H580Y|ATP7B_uc010tgt.1_Missense_Mutation_p.H580Y|ATP7B_uc010tgu.1_Missense_Mutation_p.H580Y|ATP7B_uc010tgv.1_Missense_Mutation_p.H580Y|ATP7B_uc010tgw.1_Intron	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	580	HMA 6.				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	p.H580N(2)		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)		TCTATGTTGTGGACACAGGAC	0.517000									Wilson disease					60			32		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38568232	38568232	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:38568232A>T	uc002yvz.3	+	41	5579	c.5474A>T	c.(5473-5475)aAg>aTg	p.K1825M	TTC3_uc002ywa.3_Missense_Mutation_p.K1825M|TTC3_uc002ywb.3_Missense_Mutation_p.K1825M|TTC3_uc010gnf.3_Missense_Mutation_p.K1590M|TTC3_uc002ywc.3_Missense_Mutation_p.K1515M	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1825					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GCTGATCGGAAGCAGCCTGTT	0.572000														30			19		0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46326989	46326989	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46326989G>A	uc002zgd.2	-	2	213	c.169C>T	c.(169-171)Cct>Tct	p.P57S	ITGB2_uc002zgf.3_Missense_Mutation_p.P57S|ITGB2_uc011afl.1_5'UTR|ITGB2_uc010gpw.2_Missense_Mutation_p.P57S|ITGB2_uc002zgg.2_Missense_Mutation_p.P57S	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	57					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	ATGGAGTCAGGATCCCCCGGC	0.652000														42			15		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117686752	117686752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:117686752G>A	uc003pxp.1	-	18	3164	c.2965C>T	c.(2965-2967)Cat>Tat	p.H989Y	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	989	Fibronectin type-III 4.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACCTTAGAATGAGCACTAAAT	0.423000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									42			24		0	0	1	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323870	44323870	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:44323870C>T	uc002zcm.3	+	2	814	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	NDUFV3_uc002zcn.3_Intron	NM_021075	NP_066553	P56181	NDUV3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa (NDUFV3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	20					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	AACCACAATGCCCAGATCTCA	0.398000														179			20		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96024216	96024216	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:96024216C>T	uc004ati.1	+	11	3187	c.3187C>T	c.(3187-3189)Cct>Tct	p.P1063S	WNK2_uc011lud.1_Missense_Mutation_p.P1063S|WNK2_uc004atj.3_Missense_Mutation_p.P1063S|WNK2_uc004atk.3_Missense_Mutation_p.P700S	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1063					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCCTGCCGCCCCTGAGCTCCT	0.682000														23			6		0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220791985	220791985	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:220791985G>A	uc009xdw.3	+	8	1394	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	MARK1_uc001hmn.4_Missense_Mutation_p.R266Q|MARK1_uc010pun.2_Missense_Mutation_p.R266Q|MARK1_uc001hmm.4_Missense_Mutation_p.R244Q	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	266	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AAGGAACTGCGAGAGCGAGTT	0.338000														100			33		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941460	22941460	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22941460T>C	uc021urt.1	-	3	1406	c.1251A>G	c.(1249-1251)gtA>gtG	p.V417V		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.P417P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CAGTATGAATTACCTTATGTA	0.358000														63			19		0	0	1	0	0
TMEM8C	389827	broad.mit.edu	37	9	136380695	136380695	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:136380695G>A	uc011mdk.2	-	3	536	c.434C>T	c.(433-435)cCa>cTa	p.P145L		NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN	Homo sapiens transmembrane protein 8C (TMEM8C), mRNA.	145						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GCTCTTGTCTGGGTACAGGCC	0.597000														48			30		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086447	92086447	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92086447C>T	uc001pdj.4	+	0	1186	c.1169C>T	c.(1168-1170)cCt>cTt	p.P390L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	390	Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAATTTTCCCCTCCTGGTGTC	0.398000										TCGA Ovarian(4;0.039)				19			11		0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8196618	8196618	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8196618C>T	uc001qtu.3	+	4	1634	c.549C>T	c.(547-549)gcC>gcT	p.A183A	FOXJ2_uc001qtt.1_Silent_p.A183A	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	183					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GTGGAGAAGCCTCACTGCCTC	0.547000														88			31		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897633	175897633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:175897633G>A	uc003iuc.3	+	4	1627	c.957G>A	c.(955-957)atG>atA	p.M319I	ADAM29_uc003iud.3_Missense_Mutation_p.M319I|ADAM29_uc010irr.3_Missense_Mutation_p.M319I|ADAM29_uc011cki.2_Missense_Mutation_p.M319I|ADAM29_uc021xuo.1_Missense_Mutation_p.M319I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	319	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTACTTTCATGAACAAAACTT	0.403000														178			67		0	0	1	0	0
PPARD	5467	broad.mit.edu	37	6	35392492	35392492	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:35392492C>T	uc003okn.3	+	7	1419	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	PPARD_uc003okl.3_Silent_p.F338F|PPARD_uc011dtb.2_Silent_p.F299F|PPARD_uc011dtc.2_Silent_p.F240F|PPARD_uc003okm.3_Silent_p.F338F	NM_001171818	NP_006229	Q03181	PPARD_HUMAN	Homo sapiens peroxisome proliferator-activated receptor delta (PPARD), transcript variant 3, mRNA.	338	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CTGTCAAGTTCAACGCCCTGG	0.547000														38			28		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34006106	34006106	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:34006106G>A	uc011kap.2	+	4	709	c.335G>A	c.(334-336)gGa>gAa	p.G112E		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	112	VWFC 2.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACCTATGAAGGAAATACCTAT	0.438000														48			13		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95603935	95603935	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:95603935C>T	uc001tdp.4	-	1	1349	c.1125G>A	c.(1123-1125)gtG>gtA	p.V375V	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	375					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCATTTTATCCACCTGTTCCT	0.353000														70			27		0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110754499	110754499	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110754499C>T	uc009wfr.3	+	0	1164	c.378C>T	c.(376-378)ttC>ttT	p.F126F	KCNC4_uc001dzf.3_Silent_p.F126F|KCNC4_uc001dzh.3_Silent_p.F126F|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Silent_p.F126F	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	126					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCCGCTCTTCGAAGAGGAGC	0.657000														57			6		0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7712089	7712089	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7712089C>T	uc010xjr.2	+	16	1572	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	STXBP2_uc002mha.4_Silent_p.F498F|STXBP2_uc002mhb.4_Silent_p.F495F|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_3'UTR	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	498					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGGCCCTTCGTATCCGACC	0.736000														54			20		0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422039	1422039	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1422039G>A	uc003jck.3	-	4	870	c.744C>T	c.(742-744)atC>atT	p.I248I		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	248					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGAGCAGCACGATGACCAGCA	0.647000														90			26		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146148	31146148	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:31146148G>A	uc003tca.2	+	15	1546	c.1257G>A	c.(1255-1257)aaG>aaA	p.K419K	ADCYAP1R1_uc003tcg.3_Silent_p.K447K|ADCYAP1R1_uc003tce.2_Silent_p.K446K|ADCYAP1R1_uc003tcb.2_Silent_p.K398K|ADCYAP1R1_uc003tcc.2_Silent_p.K447K	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	419					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GAAGCTGGAAGGTGAACCGTT	0.592000														49			25		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105404490	105404490	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105404490G>A	uc010axc.1	-	6	17418	c.17298C>T	c.(17296-17298)tcC>tcT	p.S5766S	AHNAK2_uc021sen.1_Silent_p.S1163S|AHNAK2_uc021seo.1_Silent_p.S764S|AHNAK2_uc001ypx.2_Silent_p.S5666S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5766						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTCTTGCCGCGGATGTCACCA	0.542000														38			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179575520	179575520	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179575520C>T	uc021vsy.1	-	94	24797	c.24572G>A	c.(24571-24573)aGa>aAa	p.R8191K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R4852K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9118	Ig-like 64.						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)			TCGTATTTCTCTGCTGTCTTT	0.507000														70			20		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64527540	64527540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:64527540C>T	uc003dmg.3	-	32	5203	c.5171G>A	c.(5170-5172)cGa>cAa	p.R1724Q	ADAMTS9_uc011bfo.2_Missense_Mutation_p.R1696Q|ADAMTS9_uc011bfp.1_Missense_Mutation_p.R635Q	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1724	TSP type-1 15.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GCAGGTTTTTCGTTCTTCTGG	0.438000														128			36		0	0	1	0	0
LRRC20	55222	broad.mit.edu	37	10	72061139	72061139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72061139G>A	uc001jqx.1	-	4	748	c.526C>T	c.(526-528)Ccg>Tcg	p.P176S	LRRC20_uc001jqy.1_Missense_Mutation_p.P120S|LRRC20_uc001jqz.1_Missense_Mutation_p.P126S	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN	Homo sapiens leucine rich repeat containing 20 (LRRC20), transcript variant 1, mRNA.	176										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						GCGCCTTCCGGAGACATGAGC	0.647000														59			24		0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88039932	88039932	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:88039932G>A	uc003dqr.2	+	1	191	c.33G>A	c.(31-33)ttG>ttA	p.L11L	HTR1F_uc021xbd.1_Silent_p.L11L	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	11					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	p.L11L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	ATCAAAACTTGACCTCAGAGG	0.373000														120			36		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76382154	76382154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:76382154C>T	uc021rkq.1	+	9	2070	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Missense_Mutation_p.P346S|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Missense_Mutation_p.P252S	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	631						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AATATTAGTTCCTTCATATCG	0.448000														65			7		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432226	140432226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140432226C>T	uc003lik.1	+	0	1248	c.1171C>T	c.(1171-1173)Ccc>Tcc	p.P391S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	391	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAAGACCTTCCCTTTGTAAT	0.473000														77			41		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108006601	108006601	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:108006601G>A	uc001tmk.1	+	5	2375	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	BTBD11_uc009zut.1_Silent_p.A618A|BTBD11_uc001tmj.3_Silent_p.A618A|BTBD11_uc001tml.1_Silent_p.A155A	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	618						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGGACGAGGCGATGGTTCAGA	0.602000														22			7		0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20161138	20161138	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:20161138C>T	uc003cbq.3	+	7	1645	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	400					N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AATTCAACCTCATCTTCCCTT	0.502000														68			35		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54759173	54759173	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54759173C>T	uc010yer.1	-	4	1012	c.901G>A	c.(901-903)Gac>Aac	p.D301N	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.D310N|LILRB5_uc002qez.3_Missense_Mutation_p.D210N|LILRB5_uc002qex.3_Missense_Mutation_p.D310N|LILRB5_uc002qfa.1_Missense_Mutation_p.D200N|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	310	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCAGGGGGTCGCTGGGGGCC	0.667000														42			22		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141135801	141135801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141135801G>A	uc002tvj.1	-	67	11558	c.10586C>T	c.(10585-10587)tCt>tTt	p.S3529F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3529	LDL-receptor class A 26.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAACCTTGAAGAAACACAGTC	0.408000										TSP Lung(27;0.18)				40			17		0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109695723	109695723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:109695723G>A	uc004eor.2	+	2	2124	c.1878G>A	c.(1876-1878)acG>acA	p.T626T	RGAG1_uc011msr.1_Silent_p.T626T	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	626										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCTCAGGAACGATGTTCACGG	0.502000														23			40		0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25201908	25201908	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:25201908C>T	uc002wuj.2	+	10	1164	c.984C>T	c.(982-984)ccC>ccT	p.P328P	ENTPD6_uc010zsy.1_Silent_p.P328P|ENTPD6_uc010gdj.1_Silent_p.P300P|ENTPD6_uc002wum.2_Silent_p.P311P|ENTPD6_uc010zta.1_Silent_p.P328P|ENTPD6_uc002wuk.2_Silent_p.P327P|ENTPD6_uc002wul.2_Silent_p.P327P|ENTPD6_uc010ztb.1_Silent_p.P300P|ENTPD6_uc010ztc.1_Silent_p.P300P|ENTPD6_uc002wuo.2_Silent_p.P80P|ENTPD6_uc010zsz.1_Silent_p.P110P|ENTPD6_uc010ztd.1_Intron|ENTPD6_uc010gdl.1_5'Flank|ENTPD6_uc010gdk.1_5'Flank	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	328						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GCTTGTCTCCCAGTTTCAAAG	0.512000														60			11		0	0	1	0	0
ASF1B	55723	broad.mit.edu	37	19	14247214	14247214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:14247214G>A	uc002mye.3	-	0	227	c.55C>T	c.(55-57)Cac>Tac	p.H19Y	LOC100507373_uc002myf.3_5'Flank	NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN	Homo sapiens ASF1 anti-silencing function 1 homolog B (S. cerevisiae) (ASF1B), mRNA.	19	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						AAGGGGCTGTGGAAAGGGCTC	0.716000														43			13		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908370	103908370	+	Missense_Mutation	SNP	G	A	A	rs145758335		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:103908370G>A	uc001phr.2	+	0	1063	c.820G>A	c.(820-822)Gag>Aag	p.E274K	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	274					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGCTTGTGCCGAGCGATGTAA	0.517000														104			40		0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39597070	39597070	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39597070C>T	uc002hwq.1	-	0	527	c.104G>A	c.(103-105)gGg>gAg	p.G35E		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	35	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GGCCTCTGCCCCAGGCTGGCA	0.617000														39			18		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096686	167096686	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167096686G>A	uc001geb.1	+	4	2334	c.2318G>A	c.(2317-2319)gGa>gAa	p.G773E		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	773					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ATGCTTAGTGGACACAGCAGC	0.577000														84			15		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233393	21233393	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21233393C>T	uc002red.3	-	25	6475	c.6347G>A	c.(6346-6348)gGa>gAa	p.G2116E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2116	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGGAGTTTTCCCAGGGCTGC	0.383000														44			17		0	0	1	0	0
CASP10	843	broad.mit.edu	37	2	202072836	202072836	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:202072836C>T	uc002uxj.1	+	7	1270	c.852C>T	c.(850-852)ggC>ggT	p.G284G	CASP10_uc010zhn.1_Non-coding_Transcript|CASP10_uc010ftb.2_Missense_Mutation_p.P254S|CASP10_uc010fta.1_Intron|CASP10_uc002uxk.1_Silent_p.G241G|CASP10_uc002uxl.2_Silent_p.G284G|CASP10_uc002uxm.2_Silent_p.G241G	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	284					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						ACCACAGAGGCCTCTGTGTCA	0.433000														56			26		0	0	1	0	0
UBC	7316	broad.mit.edu	37	17	21731166	21731166	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:21731166C>T	uc002gyy.3	+	1	593	c.468C>T	c.(466-468)ttC>ttT	p.F156F				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	308	Ubiquitin-like 3.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGCAGATCTTCGTGAAGACCC	0.537000														34			28		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990683	15990683	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15990683G>A	uc002nbs.1	-	9	1190	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	CYP4F2_uc010xot.1_Silent_p.F231F	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	380					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACATGGTCAGGAAGGGCAAAT	0.577000														129			59		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74823635	74823635	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:74823635G>A	uc021rwl.1	+	0	149	c.149G>A	c.(148-150)gGc>gAc	p.G50D	VRTN_uc001xpw.4_Missense_Mutation_p.G50D	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	50					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						CGGGAGGGAGGCCCTGGCCTC	0.637000														100			10		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41961632	41961632	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:41961632G>A	uc010skn.2	+	8	1523	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E	PDZRN4_uc001rmq.4_Silent_p.E247E|PDZRN4_uc009zjz.3_Silent_p.E245E|PDZRN4_uc001rmr.3_Silent_p.E132E	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	505							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCTTAGAGGAGTTAAACTTGG	0.398000														77			17		0	0	1	0	0
LIN9	286826	broad.mit.edu	37	1	226496869	226496869	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:226496869G>A	uc001hqa.2	-	0	330	c.20C>T	c.(19-21)cCt>cTt	p.P7L	LIN9_uc001hqb.2_Missense_Mutation_p.P7L|LIN9_uc001hqc.3_Intron|LIN9_uc009xel.1_Missense_Mutation_p.P7L	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	0	Sufficient for interaction with RB1.				DNA replication|cell cycle	nucleoplasm		p.Q6H(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)		CTTTTTCAAAGGCTGCCCGCC	0.672000														42			22		0	0	1	0	0
PRG3	10394	broad.mit.edu	37	11	57146261	57146261	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57146261C>T	uc001njv.2	-	3	510	c.400G>A	c.(400-402)Ggc>Agc	p.G134S		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	Homo sapiens proteoglycan 3 (PRG3), mRNA.	134	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	p.G133*(1)|p.G134G(1)		large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						ACAAGGTTGCCTCCGTAGCAT	0.488000														230			20		0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35010173	35010173	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35010173C>T	uc003jjf.3	-	11	1513	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	AGXT2_uc003jje.1_Missense_Mutation_p.E77K|AGXT2_uc011com.2_Missense_Mutation_p.E349K	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	424					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ATTTCAAATTCATCCCGCAGC	0.438000														100			49		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073721	9073721	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9073721C>T	uc002mkp.3	-	2	13929	c.13725G>A	c.(13723-13725)ggG>ggA	p.G4575G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4577	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						CAAGAGCGTCCCCCATGCTGG	0.532000														45			15		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17482038	17482038	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17482038G>A	uc001mnc.3	-	5	1134	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P	ABCC8_uc010rcy.1_Silent_p.P335P	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	336	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGCCTACCTTGGGCTGGAAGA	0.582000														109			42		0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996538	143996538	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:143996538C>T	uc003yxk.1	-	2	522	c.519G>A	c.(517-519)aaG>aaA	p.K173K		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	173			K -> R (in dbSNP:rs4539).		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			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)	GCACCTTCTTCTTCAGGGCCT	0.627000									Familial Hyperaldosteronism type I					19			3		0	0	1	0	0
CASP10	843	broad.mit.edu	37	2	202060586	202060586	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:202060586C>T	uc002uxj.1	+	4	1017	c.599C>T	c.(598-600)cCt>cTt	p.P200L	CASP10_uc002uxi.1_Missense_Mutation_p.P200L|CASP10_uc010zhn.1_Non-coding_Transcript|CASP10_uc010ftb.2_Missense_Mutation_p.P200L|CASP10_uc010fta.1_Missense_Mutation_p.P200L|CASP10_uc002uxk.1_Missense_Mutation_p.P200L|CASP10_uc002uxl.2_Missense_Mutation_p.P200L|CASP10_uc002uxm.2_Missense_Mutation_p.P200L	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	200					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTGACACCTCCTGTAGACAAG	0.443000														166			72		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288831	107288831	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107288831G>A	uc011lvn.2	-	0	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGTAGAGGATGAACATATAGG	0.408000														109			21		0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100190865	100190865	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:100190865C>T	uc004axj.3	+	1	343	c.118C>T	c.(118-120)Ccc>Tcc	p.P40S	TDRD7_uc011lux.2_Intron	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	40	Lotus/OST-HTH 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AGACTGGATCCCCTTCAAACA	0.483000														61			17		0	0	1	0	0
AX747550	0	broad.mit.edu	37	5	115298196	115298196	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:115298196G>A	uc003krn.1	-	0	785	c.121C>T	c.(121-123)Cct>Tct	p.P41S	AQPEP_uc003kro.3_5'UTR|AQPEP_uc003krp.3_Non-coding_Transcript					Homo sapiens cDNA FLJ35126 fis, clone PLACE6008285.																		CTTCCAGGAGGAAGAGGCACG	0.632000														9			3		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28378638	28378638	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:28378638C>T	uc001iua.1	-	13	1489	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.R362Q|MPP7_uc009xla.2_Missense_Mutation_p.R362Q|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	362					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	p.R361Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						ATTAGTTTGTCGCCGATACGG	0.388000														215			73		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300136	18300136	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:18300136G>A	uc002zng.4	-	25	5644	c.5291C>T	c.(5290-5292)cCc>cTc	p.P1764L	MICAL3_uc011agl.2_Missense_Mutation_p.P1680L|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1764						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCCGCTGGAGGGGGTGCTGGG	0.652000														21			7		0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627428	43627428	+	Missense_Mutation	SNP	G	A	A	rs11261835	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:43627428G>A	uc011lrb.2	-	3	1288	c.1259C>T	c.(1258-1260)cCc>cTc	p.P420L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	420						integral to membrane		p.P420L(2)		breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						GTGCAGAGAGGGGAGGCCCCA	0.498000														183			10		0	0	1	0	0
TFPI	7035	broad.mit.edu	37	2	188332533	188332533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:188332533C>T	uc002upy.3	-	6	1050	c.755G>A	c.(754-756)gGa>gAa	p.G252E		NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	252	BPTI/Kunitz inhibitor 3.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	GTTTTCATTTCCCCCACATCC	0.393000														118			41		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543236	28543236	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28543236C>T	uc003nlo.3	-	2	1864	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	416	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGTGCAACTTCCGTAGGCCTT	0.388000														62			21		0	0	1	0	0
T-Cell_Receptor_V-alpha_region	0	broad.mit.edu	37	14	22409569	22409569	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22409569G>A	uc021rpl.1	+	1	102	c.59G>A	c.(58-60)gGa>gAa	p.G20E	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc001wck.3_Missense_Mutation_p.G20E					SubName: Full=V-alpha 22; Flags: Precursor; Fragment;																		AGAACCCGTGGAAATTCAGTG	0.448000														9			4		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48119606	48119606	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:48119606G>A	uc002efc.1	-	26	4072	c.3726C>T	c.(3724-3726)ctC>ctT	p.L1242L	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	1242	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATTTTTCTGGGAGTTTCATTA	0.408000														129			28		0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8073809	8073809	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:8073809G>T	uc001aoz.3	-	3	1099	c.850C>A	c.(850-852)Ccc>Acc	p.P284T	ERRFI1_uc001apa.1_Missense_Mutation_p.P209T	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.	284					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		ACTCTGGGGGGAACCTCAGGT	0.483000														106			49		2.81731e-22	2.83318e-22	1	1	0
TCHH	7062	broad.mit.edu	37	1	152080427	152080427	+	Missense_Mutation	SNP	G	A	A	rs71585886		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152080427G>A	uc009wne.1	-	2	5538	c.5266C>T	c.(5266-5268)Cgt>Tgt	p.R1756C	TCHH_uc001ezp.2_Missense_Mutation_p.R1756C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1756	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTTCCGGACGGAGCTGCTCT	0.592000														118			16		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031795	79031795	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:79031795G>A	uc003kgc.3	+	1	7279	c.7207G>A	c.(7207-7209)Gaa>Aaa	p.E2403K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2403						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TATCACAAAGGAATCAGAGAA	0.348000														48			16		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50756563	50756563	+	Silent	SNP	G	A	A	rs75934273		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:50756563G>A	uc002egm.1	+	7	2850	c.2745G>A	c.(2743-2745)ggG>ggA	p.G915G	NOD2_uc010cbl.1_Silent_p.G665G|NOD2_uc010cbm.1_Silent_p.G665G|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_Non-coding_Transcript|NOD2_uc010cbq.1_Silent_p.G53G|NOD2_uc010cbr.1_Non-coding_Transcript|NOD2_uc010vgq.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	915					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GTGACGAGGGGGCCCAGGCCC	0.517000														349			164		0	0	1	0	0
GATA6	2627	broad.mit.edu	37	18	19751212	19751212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:19751212C>T	uc002ktt.1	+	1	372	c.107C>T	c.(106-108)cCt>cTt	p.P36L	GATA6_uc002ktu.1_Missense_Mutation_p.P36L	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	36					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			TCCACGCCGCCTTCCCCCATC	0.736000														23			15		0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59962333	59962333	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:59962333G>A	uc002izn.3	-	15	2118	c.2042C>T	c.(2041-2043)tCt>tTt	p.S681F	INTS2_uc002izm.3_Missense_Mutation_p.S673F	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	681					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CATTAAAGAAGAAGAATATGA	0.353000														18			7		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934525	30934525	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:30934525C>T	uc002nsu.1	+	1	194	c.56C>T	c.(55-57)cCc>cTc	p.P19L	ZNF536_uc010edd.1_Missense_Mutation_p.P19L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAAGCTGAGCCCCACCTGAGT	0.622000														122			52		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8146261	8146261	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8146261C>T	uc002mjf.3	-	56	7334	c.7317G>A	c.(7315-7317)gaG>gaA	p.E2439E	FBN3_uc002mje.3_Silent_p.E278E	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2439	EGF-like 39; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCCTGCCATCCTCCTCCAGCA	0.582000														29			11		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95790940	95790940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95790940G>A	uc001kjk.3	+	1	771	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	PLCE1_uc010qnx.2_Missense_Mutation_p.R46Q	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	46					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACTGTCAGACGAAGTGGGGAG	0.433000														97			34		0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053475	11053475	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:11053475C>T	uc002rax.3	+	0	1413	c.923C>T	c.(922-924)tCg>tTg	p.S308L		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	308						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CGCCACTCCTCGGGCCTGCAG	0.637000														23			6		0	0	1	0	0
SLC27A4	10999	broad.mit.edu	37	9	131107735	131107735	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131107735C>T	uc004but.3	+	2	748	c.463C>T	c.(463-465)Ctc>Ttc	p.L155F	SLC27A4_uc004buu.3_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	155					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GGAGGCAGCCCTCATCAACAC	0.647000														18			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594940	179594940	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179594940C>T	uc021vsy.1	-	58	14680	c.14455G>A	c.(14455-14457)Gat>Aat	p.D4819N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1480N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5746	Ig-like 28.						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)			GAGGTGTCATCCTTCCAAACT	0.468000														25			18		0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919888	142919888	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142919888G>A	uc011ksx.2	+	0	717	c.717G>A	c.(715-717)atG>atA	p.M239I		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	239					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					ACCCCAGCATGAAGGCTCACA	0.498000														141			45		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65245923	65245923	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:65245923G>A	uc001xht.3	-	20	4566	c.4515C>T	c.(4513-4515)gaC>gaT	p.D1505D	SPTB_uc001xhr.3_Silent_p.D1505D|SPTB_uc001xhs.3_Silent_p.D1505D|SPTB_uc001xhu.3_Silent_p.D1505D|SPTB_uc010aqi.3_Silent_p.D166D	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1505					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TAGTGCCATAGTCGGCTGACT	0.582000														32			11		0	0	1	0	0
REEP3	221035	broad.mit.edu	37	10	65379551	65379552	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:65379551_65379552CC>TT	uc001jmt.3	+	6	885_886	c.702_703CC>TT	c.(700-705)ggccgc>ggTTgc	p.R235C		NM_001001330	NP_001001330	Q6NUK4	REEP3_HUMAN	Homo sapiens receptor accessory protein 3 (REEP3), mRNA.	235						integral to membrane		p.R235R(1)		endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCACCAAAGGCCGCAAAGAGGT	0.401000														13			4		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55220936	55220936	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55220936G>A	uc002qgs.1	+	0		c.1336G>A			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		TTTGATTGAGGAAGGAGAAAA	0.572000														21			7		0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95847020	95847020	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:95847020C>T	uc002suf.3	+	4	909	c.447C>T	c.(445-447)tcC>tcT	p.S149S	ZNF2_uc002sug.3_Silent_p.S107S|ZNF2_uc010yue.2_Silent_p.S111S|ZNF2_uc010fhs.3_Silent_p.S69S	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		GTAAGAAATCCCTCTCCCGGG	0.522000														78			26		0	0	1	0	0
IGFBP2	3485	broad.mit.edu	37	2	217525496	217525496	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:217525496C>T	uc021vwn.1	+	1	779	c.659C>T	c.(658-660)cCa>cTa	p.P220L	IGFBP2_uc010zju.2_Missense_Mutation_p.P220L	NM_000597	NP_000588	P18065	IBP2_HUMAN	Homo sapiens insulin-like growth factor binding protein 2, 36kDa (IGFBP2), mRNA.	220					positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		AAGCTGCGACCACCCCCTGCC	0.627000														10			5		0	0	1	0	0
CHAF1B	8208	broad.mit.edu	37	21	37788600	37788600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:37788600C>T	uc002yvj.3	+	13	1754	c.1616C>T	c.(1615-1617)cCc>cTc	p.P539L		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	Homo sapiens chromatin assembly factor 1, subunit B (p60) (CHAF1B), mRNA.	539					DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CAGGGCAGTCCCCCAGAGCTA	0.517000														30			10		0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131744851	131744851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131744851C>T	uc004bws.1	+	15	1562	c.1540C>T	c.(1540-1542)Cct>Tct	p.P514S	NUP188_uc004bwu.3_5'Flank	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	514					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCTTCGCATACCTCAAGGCAC	0.428000														80			26		0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48419014	48419014	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:48419014C>T	uc011mmb.1	+	5	1816	c.1730C>T	c.(1729-1731)cCc>cTc	p.P577L	TBC1D25_uc004dka.1_Missense_Mutation_p.P573L|TBC1D25_uc011mly.1_Missense_Mutation_p.P515L|TBC1D25_uc004dkb.1_Missense_Mutation_p.P319L|TBC1D25_uc011mlz.1_Missense_Mutation_p.P319L|TBC1D25_uc011mma.1_Missense_Mutation_p.P319L|TBC1D25_uc004dkc.1_Missense_Mutation_p.P319L|TBC1D25_uc011mmd.1_Missense_Mutation_p.P319L|TBC1D25_uc011mmc.1_Missense_Mutation_p.P319L	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	573						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GAGGCCTCTCCCACTGGTGAT	0.577000														53			41		0	0	1	0	0
ZNF774	342132	broad.mit.edu	37	15	90897947	90897947	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90897947C>T	uc002bpk.4	+	1	241	c.55C>T	c.(55-57)Cct>Tct	p.P19S		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	Homo sapiens zinc finger protein 774 (ZNF774), mRNA.	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTTAGAGAATCCTCTCCAGGA	0.438000														26			12		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16351295	16351295	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16351295C>T	uc001axu.3	+	3	347	c.267C>T	c.(265-267)caC>caT	p.H89H	CLCNKA_uc001axt.3_Intron|CLCNKA_uc010obw.2_Intron|CLCNKA_uc001axv.3_Silent_p.H89H	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	89					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)	GGGACAGCCACCTGCTCCGGT	0.622000														52			21		0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962504	165962504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:165962504C>T	uc003iqy.1	+	2	1450	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	TRIM60_uc010iqx.1_Missense_Mutation_p.S427F|TRIM60_uc021xty.1_Missense_Mutation_p.S427F	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	427	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GGTGATCTTTCCTTTTATAAT	0.378000														81			36		0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	629880	629880	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:629880G>A	uc003mtd.3	-	3	511	c.377C>T	c.(376-378)cCc>cTc	p.P126L	EXOC2_uc003mte.3_Missense_Mutation_p.P126L|EXOC2_uc011dho.2_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	126					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TAAGGACAAGGGCGGAATTCC	0.408000														91			26		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541538	55541538	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55541538G>A	uc010ril.2	+	0	625	c.625G>A	c.(625-627)Gag>Aag	p.E209K		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CATATTCAATGAGGTGAGCAG	0.393000														143			31		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60758262	60758262	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:60758262G>A	uc002jad.3	+	16	2977	c.2575G>A	c.(2575-2577)Gag>Aag	p.E859K	MRC2_uc002jae.3_5'UTR|MRC2_uc002jaf.3_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	859	C-type lectin 5.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GTTCCAGGCCGAGCTGACCTC	0.642000														28			12		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520981	131520981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:131520981G>A	uc021voy.1	+	0	1336	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	FAM123C_uc002trw.2_Missense_Mutation_p.E446K|FAM123C_uc010fmv.2_Missense_Mutation_p.E446K|FAM123C_uc010fms.1_Missense_Mutation_p.E446K|FAM123C_uc010fmt.1_Missense_Mutation_p.E446K|FAM123C_uc010fmu.1_Missense_Mutation_p.E446K	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	446										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GTGCGTGTCTGAGAGTCTGTC	0.662000														48			21		0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10397994	10397994	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10397994C>T	uc002mnr.2	+	0	352	c.306C>T	c.(304-306)ctC>ctT	p.L102L	ICAM4_uc002mns.2_Silent_p.L102L|ICAM4_uc002mnt.2_Silent_p.L102L|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	102	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			ACCAGCTGCTCGACGTGAGGG	0.662000														19			11		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94204131	94204131	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:94204131C>T	uc003kkx.2	-	16	2343	c.2343G>A	c.(2341-2343)atG>atA	p.M781I	MCTP1_uc003kkv.2_Missense_Mutation_p.M560I|MCTP1_uc003kkw.2_Missense_Mutation_p.M514I|MCTP1_uc003kkz.2_Missense_Mutation_p.M442I|MCTP1_uc003kku.2_Missense_Mutation_p.M297I	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	781					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CACAACGTTTCATTCTGATAA	0.358000														30			8		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2820382	2820382	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2820382C>T	uc002crk.3	+	12	8600	c.8051C>T	c.(8050-8052)tCc>tTc	p.S2684F		NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2684	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						CCAATAGACTCCCTCAGGGAC	0.652000														13			3		0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2610032	2610032	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:2610032C>T	uc001lwn.3	+	9	1449	c.1341C>T	c.(1339-1341)ccC>ccT	p.P447P	KCNQ1_uc009ydp.1_Silent_p.P231P|KCNQ1_uc001lwo.3_Silent_p.P320P	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	447					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CGTGCGACCCCCCAGAAGAGC	0.552000														31			9		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55142285	55142285	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55142285G>A	uc003pcl.3	+	4	1185	c.870G>A	c.(868-870)gcG>gcA	p.A290A	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	290					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)			GCGCTGTGGCGGCTGAAATAA	0.498000														51			16		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2967436	2967436	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:2967436G>A	uc003bpc.3	+	12	1670	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	CNTN4_uc003bpb.1_Missense_Mutation_p.G116E|CNTN4_uc021wsg.1_Missense_Mutation_p.G444E|CNTN4_uc003bpd.1_Missense_Mutation_p.G444E|CNTN4_uc003bpe.3_Missense_Mutation_p.G116E|CNTN4_uc003bpf.3_Missense_Mutation_p.G116E	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	444	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.P444S(1)|p.P444T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGGAAGAAAGGAAGGGATATA	0.338000														113			27		0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120809247	120809247	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:120809247G>A	uc003you.3	-	7	1344	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	358					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCTAGATATGAAACAACCAA	0.383000														63			21		0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159171	152159171	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:152159171G>A	uc022chn.1	-	0	972	c.972C>T	c.(970-972)ctC>ctT	p.L324L	PNMA5_uc010ntx.3_Silent_p.L324L|PNMA5_uc010ntw.3_Silent_p.L324L|PNMA5_uc004fgy.4_Silent_p.L324L|PNMA5_uc022chm.1_Silent_p.L324L	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	324					apoptosis			p.L324L(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CATCTCGAATGAGCTTCATTA	0.562000														26			23		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52250020	52250020	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52250020G>A	uc021uyn.1	-	2	374	c.228C>T	c.(226-228)tcC>tcT	p.S76S	FPR1_uc002pxq.3_Silent_p.S76S|FPR1_uc021uyo.1_Silent_p.S76S	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	76					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)	ATGGCAAAGTGGAGGTGAAAC	0.522000														60			34		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71218869	71218869	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71218869C>T	uc002ezr.3	-	2	311	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Missense_Mutation_p.E54K|HYDIN_uc010vmc.2_Missense_Mutation_p.E71K|HYDIN_uc010vmd.2_Missense_Mutation_p.E81K|HYDIN_uc002ezw.4_Missense_Mutation_p.E71K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	54								p.E54K(3)		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)				AGGGACATTTCCTTCAGGAAC	0.408000														70			20		0	0	1	0	0
C19orf29	58509	broad.mit.edu	37	19	3623996	3623996	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3623996G>A	uc002lyh.3	-	1	385	c.332C>T	c.(331-333)cCt>cTt	p.P111L	C19orf29_uc010dtn.3_5'Flank|C19orf29_uc002lyi.4_Missense_Mutation_p.P111L|C19orf29_uc010dto.3_Non-coding_Transcript	NM_001080543	NP_067054	Q8WUQ7	CS029_HUMAN	Homo sapiens chromosome 19 open reading frame 29 (C19orf29), transcript variant 1, mRNA.	111						catalytic step 2 spliceosome	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(2)	15		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGGAGCTAGGAGACCACGA	0.701000														15			6		0	0	1	0	0
NMNAT2	23057	broad.mit.edu	37	1	183230174	183230174	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:183230174T>C	uc001gqc.2	-	9	1016	c.784A>G	c.(784-786)Aac>Gac	p.N262D	NMNAT2_uc009wye.2_Non-coding_Transcript|NMNAT2_uc001gqb.2_Missense_Mutation_p.N257D	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 2 (NMNAT2), transcript variant 1, mRNA.	262					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						atgggatggttgatgtcatcc	0.458000														94			41		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40947690	40947690	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:40947690G>A	uc002ibj.3	+	15	3138	c.3070G>A	c.(3070-3072)Gaa>Aaa	p.E1024K	WNK4_uc010wgx.2_Missense_Mutation_p.E688K|CCDC56_uc010wgz.1_3'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	1024					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCATCCAAGGAACCGGCTGA	0.547000														29			29		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10108085	10108085	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10108085G>A	uc002mmq.1	-	10	1311	c.1225C>T	c.(1225-1227)Ccc>Tcc	p.P409S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	409	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.P409P(1)		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)			GGGGGGCCGGGAGGGCCTGAG	0.602000														7			9		0	0	1	0	0
SLC25A42	284439	broad.mit.edu	37	19	19217149	19217149	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19217149C>T	uc002nlf.2	+	5	608	c.452C>T	c.(451-453)cCc>cTc	p.P151L	SLC25A42_uc010xqn.1_Missense_Mutation_p.P203L	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.	151					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CTGACCTACCCCCTGGACCTG	0.657000														53			19		0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124404283	124404283	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:124404283G>A	uc003vli.3	-	0	1399	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	250						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGGTAGAAGGGGTTCTTCAGT	0.622000														47			16		0	0	1	0	0
PRSS8	5652	broad.mit.edu	37	16	31144657	31144657	+	Silent	SNP	G	A	A	rs143732587	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31144657G>A	uc002ebc.4	-	2	488	c.156C>T	c.(154-156)gtC>gtT	p.V52V	PRSS8_uc010vfe.2_Silent_p.V52V	NM_002773	NP_002764	Q16651	PRSS8_HUMAN	Homo sapiens protease, serine, 8 (PRSS8), mRNA.	52	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						ACTGACCGGCGACTGCACTGC	0.637000														48			6		0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55705875	55705875	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:55705875C>T	uc021tio.1	+	2	483	c.432C>T	c.(430-432)atC>atT	p.I144I	SLC6A2_uc002eif.3_Silent_p.I144I|SLC6A2_uc002eig.3_Silent_p.I144I|SLC6A2_uc002eii.3_Silent_p.I39I	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	144					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCATCCTGATCGCCCTGTACG	0.607000														37			15		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77378026	77378026	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77378026C>T	uc004ajl.1	-	25	3799	c.3561G>A	c.(3559-3561)ctG>ctA	p.L1187L	TRPM6_uc004ajk.1_Silent_p.L1182L|TRPM6_uc022bib.1_Silent_p.L1182L|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.L143L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1187					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCATTTCTTTCAGCTGGAAGT	0.463000														45			9		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111430622	111430622	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:111430622G>A	uc003vfy.3	-	31	3583	c.3314C>T	c.(3313-3315)cCc>cTc	p.P1105L	DOCK4_uc011kmm.2_5'Flank|DOCK4_uc003vfw.3_Missense_Mutation_p.P510L|DOCK4_uc003vfx.3_Missense_Mutation_p.P1069L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1069	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTCTAGGAAGGGGCCAATCAG	0.403000														37			4		0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67431935	67431935	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67431935C>T	uc001omr.3	-	7	1244	c.805G>A	c.(805-807)Gag>Aag	p.E269K	ALDH3B2_uc001oms.3_Missense_Mutation_p.E269K|ALDH3B2_uc009ysa.1_Missense_Mutation_p.E269K	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	269					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	p.D268D(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TTGATGGCCTCGTCCACGCTC	0.652000														89			46		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52812419	52812419	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52812419C>T	uc003dfs.3	+	2	232	c.202C>T	c.(202-204)Cac>Tac	p.H68Y	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_5'Flank|ITIH1_uc021wzg.1_5'Flank|ITIH1_uc021wzh.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	68	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TCGCTTCGCCCACTATGTTGT	0.522000														98			48		0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49776046	49776046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:49776046C>T	uc001vcm.3	+	23	3403	c.3098C>T	c.(3097-3099)cCc>cTc	p.P1033L	FNDC3A_uc001vcn.3_Missense_Mutation_p.P1033L|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Missense_Mutation_p.P977L	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	1033	Fibronectin type-III 8.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GGGGAAGGTCCCCTCTCCCAA	0.353000														83			27		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90433300	90433300	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:90433300G>A	uc003pnn.1	-	38	5825	c.5709C>T	c.(5707-5709)ttC>ttT	p.F1903F		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1903					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TACTGGCAATGAACTCCATGT	0.333000														30			12		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43075811	43075811	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43075811G>A	uc001zqo.2	-	10	1442	c.1003C>T	c.(1003-1005)Cct>Tct	p.P335S	TTBK2_uc010bcy.2_Missense_Mutation_p.P266S|TTBK2_uc001zqp.3_Missense_Mutation_p.P335S	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	335					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AAGTCTCCAGGGATGGGAGTA	0.373000														191			83		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72063173	72063173	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:72063173G>A	uc021rkj.1	-	6	2107	c.1684C>T	c.(1684-1686)Cct>Tct	p.P562S	DACH1_uc021rkk.1_Missense_Mutation_p.P414S|DACH1_uc021rkl.1_Missense_Mutation_p.P360S	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	612					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGTCCATCAGGAAACAGAAAA	0.463000														165			47		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28877480	28877480	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:28877480C>T	uc001usb.3	-	29	4126	c.3841G>A	c.(3841-3843)Gag>Aag	p.E1281K	FLT1_uc010aap.2_Missense_Mutation_p.E286K|FLT1_uc010aaq.2_Missense_Mutation_p.E406K|FLT1_uc001usa.3_Missense_Mutation_p.E499K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1281					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGCCCCGACTCCTTACTTTTA	0.443000														39			18		0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20376776	20376776	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20376776G>A	uc002dhc.1	-	8	1426	c.1203C>T	c.(1201-1203)gtC>gtT	p.V401V		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	401	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.V401I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTTTGTCAAAGACGACTACGT	0.438000														140			16		0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76372279	76372279	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:76372279G>A	uc001oxq.4	-	2	601	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	LRRC32_uc001oxr.4_Silent_p.L120L|LRRC32_uc010rsf.2_Silent_p.L120L	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	120						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGGGGGCCCAGGCCACCAGCA	0.692000														41			16		0	0	1	0	0
ACADSB	36	broad.mit.edu	37	10	124793927	124793927	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124793927C>T	uc001lhb.3	+	1	215	c.98C>T	c.(97-99)tCa>tTa	p.S33L	ACADSB_uc010qub.2_5'UTR	NM_001609	NP_001600	P45954	ACDSB_HUMAN	Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	33					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CCTCATGTCTCAAAATCTTCC	0.363000														103			8		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54849620	54849621	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:54849620_54849621CC>TT	uc002rxu.3	+	8	1309_1310	c.1060_1061CC>TT	c.(1060-1062)ccc>TTc	p.P354F	SPTBN1_uc002rxv.1_Missense_Mutation_p.P354F|SPTBN1_uc002rxx.3_Missense_Mutation_p.P341F	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	354					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGAGAAACCACCCAAGTAAGAT	0.411000														110			8		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530609	140530609	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140530609C>T	uc003lir.3	+	0	771	c.771C>T	c.(769-771)ggC>ggT	p.G257G		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	257	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCCCTCGGCTCTCTGGTTA	0.507000														43			15		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71095058	71095058	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:71095058C>T	uc001swi.2	-	6	1467	c.1053G>A	c.(1051-1053)ggG>ggA	p.G351G	PTPRR_uc001swh.2_Silent_p.G106G|PTPRR_uc009zrs.3_Silent_p.G145G|PTPRR_uc010stq.2_Silent_p.G239G|PTPRR_uc010str.1_Silent_p.G200G	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	351					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GTTCAATGTTCCCCAAGCTAC	0.438000														80			20		0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35242163	35242163	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:35242163C>T	uc011kas.2	-	7	1703	c.1223G>A	c.(1222-1224)gGg>gAg	p.G408E		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	408						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GGGGCCACTCCCTTGCATGGA	0.552000														29			7		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956201	18956201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:18956201C>T	uc001mpg.3	-	0	349	c.131G>A	c.(130-132)gGa>gAa	p.G44E		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	44					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AACTGCGTTTCCTGTCAGCCC	0.567000														160			67		0	0	1	0	0
DNAJA3	9093	broad.mit.edu	37	16	4491432	4491432	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:4491432C>T	uc002cwk.3	+	3	563	c.486C>T	c.(484-486)ttC>ttT	p.F162F	DNAJA3_uc002cwl.3_Silent_p.F162F|DNAJA3_uc010uxk.2_Intron	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3 (DNAJA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	162					activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|NF-kappaB binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						CTGCAGGCTTCGATCCTGGGG	0.577000														51			5		0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15262451	15262451	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:15262451C>T	uc001rcs.3	-	4	333	c.193_splice	c.e4-1	p.E65_splice	RERG_uc001rct.3_Splice_Site_p.E65_splice|RERG_uc010shu.2_Splice_Site_p.E46_splice	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	65					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						ATGGTATCTTCCTGTTGGCAA	0.443000														299			78		0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31498855	31498855	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31498855C>T	uc002ecf.4	+	6	679	c.660C>T	c.(658-660)ttC>ttT	p.F220F	SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	220					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CGGCAGCCTTCCACGAGGTGG	0.667000														87			28		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45461956	45461956	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:45461956C>T	uc003jok.3	-	2	1028	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	335						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACAACCATTTCATTTAAAGAC	0.398000														33			15		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879171	3879171	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:3879171C>T	uc002kmf.3	-	3	1425	c.898G>A	c.(898-900)Gac>Aac	p.D300N	DLGAP1_uc010wyz.2_Missense_Mutation_p.D300N|DLGAP1_uc002kmk.2_Missense_Mutation_p.D300N|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	300					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ATGGCCTGGTCCATGTTCACC	0.592000														54			15		0	0	1	0	0
PFKFB2	5208	broad.mit.edu	37	1	207228079	207228079	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207228079C>T	uc001hfg.3	+	1	126	c.17C>T	c.(16-18)tCc>tTc	p.S6F	PFKFB2_uc010psc.2_5'UTR|YOD1_uc001hff.1_5'Flank|PFKFB2_uc001hfh.3_Missense_Mutation_p.S6F|PFKFB2_uc009xcc.3_5'UTR	NM_006212	NP_006203	O60825	F262_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 (PFKFB2), transcript variant 1, mRNA.	6	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GGGGCATCTTCCTCAGAACAG	0.423000														20			13		0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42289183	42289183	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:42289183C>T	uc003bbi.3	+	11	2440	c.2271C>T	c.(2269-2271)tcC>tcT	p.S757S	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	757					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TTCCTGACTCCCTGCGCTGGC	0.602000														100			27		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141794427	141794427	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141794427G>A	uc003vwy.3	+	38	4680	c.4626G>A	c.(4624-4626)atG>atA	p.M1542I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1542	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)	CAGGCATGATGGAGTTCAGCC	0.552000														69			27		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998538	27998538	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:27998538G>A	uc004dbx.1	-	0	1029	c.914C>T	c.(913-915)tCa>tTa	p.S305L		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	305										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ATCTTCACCTGAAGTGAGGAA	0.483000														25			21		0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32954042	32954042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:32954042C>T	uc002hif.3	+	2	1022	c.694C>T	c.(694-696)Ccc>Tcc	p.P232S		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	232						integral to membrane		p.S231W(1)|p.P232L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CTCCTCCTCGCCCTCCAGCCC	0.597000														49			13		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22134064	22134064	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22134064C>T	uc010tmd.2	+	0	768	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CATGTATCTTCATCTATACTC	0.507000														46			20		0	0	1	0	0
FAM48B2	170067	broad.mit.edu	37	X	24329698	24329698	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:24329698C>T	uc011mjw.2	-	0	1735	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA.	579										breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1)	23						ACTGGGCCCTCCACGTTGGTG	0.662000														3			7		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832614	61832614	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61832614C>T	uc001jky.3	-	36	8363	c.8025G>A	c.(8023-8025)aaG>aaA	p.K2675K	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.	2675					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						AGAGAACCATCTTCTCTGGGC	0.557000														79			25		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98764462	98764462	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98764462G>A	uc001kmw.2	-	32	3950	c.3698C>T	c.(3697-3699)tCt>tTt	p.S1233F		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1233	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GTAGATGGCAGAGCTGGGGTA	0.597000														56			17		0	0	1	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411228	32411228	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32411228C>T	uc003obh.3	+	2	704	c.595C>T	c.(595-597)Ctt>Ttt	p.L199F	HLA-DRA_uc003obi.3_Missense_Mutation_p.L174F	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	199	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GGATGAGCCTCTTCTCAAGCA	0.493000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of					90			21		0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74328067	74328067	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74328067C>T	uc002skb.4	+	8	3747	c.3747C>T	c.(3745-3747)ccC>ccT	p.P1249P		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1249							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCCCTCCCCCTTTGCCCAGA	0.622000														9			5		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402193	89402193	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89402193C>T	uc010upo.1	+	11	6751	c.6377C>T	c.(6376-6378)tCc>tTc	p.S2126F	ACAN_uc010upp.1_Missense_Mutation_p.S2126F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2126					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)			GATTCTGGGTCCCCTGATCTG	0.552000														105			29		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38357230	38357230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:38357230C>T	uc010abx.3	-	1	476	c.241G>A	c.(241-243)Gag>Aag	p.E81K	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.E81K|TRPC4_uc001uws.3_Missense_Mutation_p.E81K|TRPC4_uc010tey.2_Missense_Mutation_p.E81K|TRPC4_uc010abw.3_Missense_Mutation_p.E81K|TRPC4_uc010aby.3_Missense_Mutation_p.E81K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	81					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		tccaagttctcattttcaatt	0.373000														71			33		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15793285	15793285	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15793285G>A	uc002nbl.3	+	5	731	c.612G>A	c.(610-612)caG>caA	p.Q204Q		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ACAGTCTACAGAAATGCATCT	0.532000														146			39		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98155765	98155766	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98155765_98155766CC>TT	uc001kml.2	-	11	1637_1638	c.1396_1397GG>AA	c.(1396-1398)gga>AAa	p.G466K	TLL2_uc009xvf.2_Missense_Mutation_p.G444K	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	466	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.G465W(1)|p.G465R(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTTCATGTCTCCCCCGCAGGTA	0.540000											OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		79			30		0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104239109	104239109	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104239109G>A	uc004bbm.3	-	1	588	c.266C>T	c.(265-267)tCa>tTa	p.S89L	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Missense_Mutation_p.S89L	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	89						integral to membrane		p.S89L(1)									AATGGGCACTGAGCCATTGGC	0.577000														24			17		0	0	1	0	0
APOA5	116519	broad.mit.edu	37	11	116661629	116661629	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:116661629G>A	uc009yzg.3	-	1	826	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Missense_Mutation_p.R106C|APOA5_uc009yzf.3_Missense_Mutation_p.R106C			Q6Q788	APOA5_HUMAN	Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.	106					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GGCTGGAGGCGAGCCTTCACC	0.642000														79			29		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134993876	134993876	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:134993876C>T	uc004ezh.3	+	17	2452	c.2285C>T	c.(2284-2286)tCt>tTt	p.S762F	SAGE1_uc010nry.1_Missense_Mutation_p.S731F|SAGE1_uc011mvv.2_Missense_Mutation_p.S386F	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	762										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GCATTGGATTCTTTCTCTCAC	0.423000														96			61		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834355	101834355	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:101834355C>T	uc003knn.3	-	0	366	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	SLCO6A1_uc003kno.3_Missense_Mutation_p.R65Q|SLCO6A1_uc003knp.3_Missense_Mutation_p.R65Q|SLCO6A1_uc003knq.3_Missense_Mutation_p.R65Q	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	65						integral to membrane|plasma membrane	transporter activity	p.R65Q(4)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTTCCTTTTTCGGAAACCGCC	0.542000														215			80		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210856647	210856647	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:210856647C>T	uc001hib.2	-	10	3116	c.2946G>A	c.(2944-2946)gaG>gaA	p.E982E	KCNH1_uc001hic.2_Silent_p.E955E	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	982					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AAATGTCTCTCTCTGATTCTG	0.463000														241			16		0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155486959	155486959	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155486959G>A	uc003ioa.4	+	2	154	c.115_splice	c.e2-1	p.G39_splice	FGB_uc010ipu.1_Non-coding_Transcript|FGB_uc010ipv.3_Splice_Site_p.G39_splice	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	39			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ATTCCTTGTAGGGTTTCTTCA	0.463000														29			12		0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139264822	139264822	+	Missense_Mutation	SNP	C	T	T	rs143263677		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139264822C>T	uc022bpp.1	-	5	1041	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	CARD9_uc004chg.3_Missense_Mutation_p.R292Q|CARD9_uc022bpo.1_Missense_Mutation_p.R292Q|CARD9_uc011mdx.1_Missense_Mutation_p.R188Q	NM_052814	NP_434701	Q9H257	CARD9_HUMAN	Homo sapiens caspase recruitment domain family, member 9 (CARD9), transcript variant 2, mRNA.	292					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CTGGTGGTCCCGCAGCGCCTG	0.682000														4			8		0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53086249	53086249	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53086249C>T	uc010ydn.2	+	4	1198	c.1135C>T	c.(1135-1137)Ctt>Ttt	p.L379F	ZNF701_uc002pzs.2_Missense_Mutation_p.L313F|ZNF701_uc021uyw.1_Missense_Mutation_p.L379F	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ACAATCAAACCTTGCACGTCA	0.388000														92			36		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40717020	40717020	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:40717020C>T	uc001rmg.4	+	37	5689	c.5568C>T	c.(5566-5568)gcC>gcT	p.A1856A	LRRK2_uc009zjw.3_Silent_p.A694A|LRRK2_uc001rmi.3_Silent_p.A689A	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1856					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTCAGATTGCCCCTGACTTGA	0.338000														69			25		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108129689	108129689	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108129689C>T	uc003dxa.1	-	31	4353	c.4296G>A	c.(4294-4296)caG>caA	p.Q1432Q		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1432						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						CCAGCTGCAGCTGGTGCCTGG	0.622000														41			17		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369377	56369377	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56369377C>T	uc002qmd.4	+	2	1040	c.618C>T	c.(616-618)tcC>tcT	p.S206S	NLRP4_uc002qmf.3_Silent_p.S131S|NLRP4_uc010etf.3_Silent_p.S37S	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	206	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACTTGATTTCCAGAGAGTGGC	0.532000														137			12		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267772	71267772	+	Silent	SNP	G	A	A	rs147891121	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:71267772G>A	uc001xmm.3	-	1	432	c.432C>T	c.(430-432)ctC>ctT	p.L144L	MAP3K9_uc001xml.3_Silent_p.L144L	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	144	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTTCCAAGGTGAGCTCCGCAA	0.438000														63			24		0	0	1	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6932137	6932137	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrY:6932137C>T	uc004frb.3	+	7	1051	c.404C>T	c.(403-405)cCa>cTa	p.P135L	TBL1Y_uc004frc.3_Missense_Mutation_p.P135L|TBL1Y_uc004frd.3_Missense_Mutation_p.P135L|TBL1Y_uc011nap.2_5'UTR	NM_033284	NP_599021	Q9BQ87	TBL1Y_HUMAN	Homo sapiens transducin (beta)-like 1, Y-linked (TBL1Y), transcript variant 1, mRNA.	135					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						CAAAATCCTCCAAAGAACCGA	0.547000														14			23		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58240849	58240849	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:58240849G>A	uc001vhq.1	+	2	3571	c.2679G>A	c.(2677-2679)ggG>ggA	p.G893G	PCDH17_uc010aec.1_Silent_p.G892G|PCDH17_uc001vhr.1_5'UTR	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	893					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GTGGGCACGGGGACAGTGATC	0.448000														71			15		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16199342	16199342	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16199342C>T	uc001axk.1	+	1	319	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	SPEN_uc010obp.1_5'Flank	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	39	RRM 1.				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)		CAAAATTCTTCCCAAGAGGGG	0.398000														65			27		0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323644	29323644	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29323644G>A	uc011dlo.2	-	0	411	c.329C>T	c.(328-330)tCa>tTa	p.S110L		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGACACTCTGATCCTACAAA	0.403000														68			28		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898880	37898880	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:37898880G>A	uc002hsr.3	+	2	492	c.217G>A	c.(217-219)Gag>Aag	p.E73K	GRB7_uc002hss.3_Missense_Mutation_p.E73K|GRB7_uc021twu.1_Missense_Mutation_p.E96K|GRB7_uc010cwc.3_Missense_Mutation_p.E73K|GRB7_uc002hst.3_Missense_Mutation_p.E73K	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	73					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCCCTTCCCTGAGCTCTGCAG	0.637000														96			33		0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060702	16060702	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16060702G>A	uc010xov.2	+	0	885	c.885G>A	c.(883-885)agG>agA	p.R295R		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TCAGCCTAAGGAACAAGGAGC	0.438000														104			69		0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53069372	53069372	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53069372C>T	uc001sau.1	-	8	1599	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R	KRT1_uc001sav.1_Missense_Mutation_p.G514R	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	514	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ctgccacctccacTGATGGTG	0.607000														42			17		0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156834179	156834179	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156834179G>A	uc001fqh.1	+	1	302	c.246G>A	c.(244-246)ctG>ctA	p.L82L	NTRK1_uc001fqf.1_Silent_p.L52L|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.L82L|NTRK1_uc009wsk.1_Silent_p.L82L	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	82					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)	TGCAGCATCTGGAGCTCCGTG	0.617000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				36			14		0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4306242	4306242	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4306242C>T	uc002lzy.2	+	2	312	c.159C>T	c.(157-159)tcC>tcT	p.S53S	FSD1_uc010xie.2_Silent_p.S40S|FSD1_uc010xif.2_Missense_Mutation_p.P37S	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	53					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)		AGTTCCAGTCCCTCTTCTCCC	0.587000														152			11		0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74133578	74133578	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74133578C>T	uc002jqx.3	-	2	1477	c.1122G>A	c.(1120-1122)gaG>gaA	p.E374E		NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	374					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CCAGGAAGGTCTCATCGAAGT	0.682000														3			4		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220480833	220480833	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220480833C>T	uc002vml.3	+	24	3261	c.3218C>T	c.(3217-3219)gCc>gTc	p.A1073V		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	1073					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCTGCTTGCCTGGATCCGG	0.622000														24			5		0	0	1	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36468525	36468525	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36468525C>T	uc021wdj.1	+	11	1326	c.1235C>T	c.(1234-1236)gCt>gTt	p.A412V	CTNNBL1_uc002xhh.3_Missense_Mutation_p.A225V|CTNNBL1_uc002xhi.3_Non-coding_Transcript|CTNNBL1_uc002xhj.3_Missense_Mutation_p.A160V	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	412					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCGATCCTGGCTTCCCTCCTG	0.493000														47			18		0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19350783	19350783	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:19350783C>T	uc003znq.3	+	18	3626	c.3546C>T	c.(3544-3546)atC>atT	p.I1182I	DENND4C_uc011lnc.2_Silent_p.I512I|DENND4C_uc011lnd.2_Silent_p.I470I|DENND4C_uc003znr.3_Silent_p.I470I|DENND4C_uc003zns.3_Silent_p.I364I|DENND4C_uc003znt.3_Silent_p.I364I	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	1182						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACACAAGTATCTCAGGGTTGG	0.433000														83			18		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6912853	6912853	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6912853C>T	uc010rau.2	-	0	879	c.879G>A	c.(877-879)aaG>aaA	p.K293K		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K293K(2)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTTCACATCCTTGTTTCTCA	0.458000														62			23		0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11150690	11150690	+	Missense_Mutation	SNP	G	A	A	rs146582265	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11150690G>A	uc001asa.3	-	5	729	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	EXOSC10_uc001asb.3_Missense_Mutation_p.R227C|EXOSC10_uc009vmy.1_Missense_Mutation_p.R227C	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	227					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TCCTCAGGACGATCCTGTGGG	0.517000														32			14		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674333	4674333	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4674333G>A	uc021qcq.1	+	0	577	c.577G>A	c.(577-579)Gat>Aat	p.D193N	OR51E1_uc001lzi.4_Missense_Mutation_p.D193N	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D192Y(2)		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)		GCTGGCCTGTGATGATATCCG	0.498000														125			73		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128477589	128477589	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128477589C>T	uc003vnz.4	+	3	1046	c.837C>T	c.(835-837)atC>atT	p.I279I	FLNC_uc003voa.4_Silent_p.I279I	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	279					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGAAAGCCATCGCCTATGGGC	0.597000														75			23		0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117504152	117504152	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:117504152C>T	uc001egv.1	+	4	1638	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	501	Ig-like C2-type 4.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTTCAATTTCCGGATCCAAAG	0.483000														91			35		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79399020	79399020	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:79399020G>A	uc003hlb.2	+	54	8343	c.7903G>A	c.(7903-7905)Gat>Aat	p.D2635N		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2630	Calx-beta 1.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTCATCAACGATGATGACGT	0.483000														17			9		0	0	1	0	0
TMEM155	132332	broad.mit.edu	37	4	122682721	122682721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:122682721G>A	uc003idx.1	-	4	743	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C		NM_152399	NP_689612	Q4W5P6	TM155_HUMAN	Homo sapiens transmembrane protein 155 (TMEM155), mRNA.	62						extracellular region				breast(1)|lung(5)	6						CCCTGCAAGCGAACCAAAAAC	0.378000														59			21		0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52714852	52714852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52714852C>T	uc001saf.2	-	0	331	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	90	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGAGGCTCTCGTTGACCGAC	0.667000														108			32		0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124206289	124206289	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:124206289G>A	uc003ypv.3	+	3	2688	c.674G>A	c.(673-675)gGa>gAa	p.G225E	FAM83A_uc003ypw.3_Missense_Mutation_p.G225E|FAM83A_uc003ypx.3_Missense_Mutation_p.G225E|FAM83A_uc003ypy.3_Missense_Mutation_p.G169E|FAM83A_uc003ypz.3_Missense_Mutation_p.G225E	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	225										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTGTGGAAGGAGAGATATAC	0.463000														48			7		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690654	33690654	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:33690654C>T	uc002hjg.4	-	1	420	c.173G>A	c.(172-174)gGa>gAa	p.G58E	SLFN11_uc010ctr.3_Missense_Mutation_p.G58E|SLFN11_uc010ctp.3_Missense_Mutation_p.G58E|SLFN11_uc010ctq.3_Missense_Mutation_p.G58E|SLFN11_uc002hjh.4_Missense_Mutation_p.G58E	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	58						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AATCACTCCTCCTCCTGAGTT	0.448000														116			60		0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20045433	20045433	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:20045433A>G	uc002non.3	+	3	1845	c.1669A>G	c.(1669-1671)Ata>Gta	p.I557V		NM_031218	NP_112495	P35789	ZNF93_HUMAN	Homo sapiens zinc finger protein 93 (ZNF93), mRNA.	557						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TACACATAAGATACTTCATAC	0.358000														46			23		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318309	48318309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48318309G>A	uc003toq.2	+	17	7542	c.7518G>A	c.(7516-7518)ttG>ttA	p.L2506L	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2506					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCATGCTGTTGAATGACAGTG	0.428000														243			27		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585473	82585473	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82585473C>T	uc003uhx.2	-	4	5085	c.4796G>A	c.(4795-4797)gGa>gAa	p.G1599E	PCLO_uc003uhv.2_Missense_Mutation_p.G1599E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1530					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						TTTGCCTTTTCCCTTTGTTTC	0.428000														172			51		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33585816	33585816	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:33585816G>A	uc021vft.1	+	26	4176	c.4153G>A	c.(4153-4155)Gaa>Aaa	p.E1385K	LTBP1_uc002rou.3_Missense_Mutation_p.E1059K|LTBP1_uc002rov.3_Missense_Mutation_p.E1006K|LTBP1_uc010ymz.2_Missense_Mutation_p.E1017K|LTBP1_uc010yna.2_Missense_Mutation_p.E964K|LTBP1_uc010ynb.2_Missense_Mutation_p.E283K	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1385	TB 3.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGATAACTGCGAAATCTTCCC	0.498000														74			5		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126771152	126771152	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:126771152C>T	uc003kuh.4	+	16	2437	c.2075C>T	c.(2074-2076)cCc>cTc	p.P692L	MEGF10_uc003kui.4_Missense_Mutation_p.P692L	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	692	EGF-like 12.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CAGTGTTACCCCGGTTGGATT	0.418000														52			8		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45430210	45430210	+	Missense_Mutation	SNP	G	A	A	rs138913762		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45430210G>A	uc001zus.1	+	10	1457	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	DUOX1_uc001zut.1_Missense_Mutation_p.E371K|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	371	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGGAGCCGTGAGGTCCGAGC	0.537000														62			14		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1272354	1272354	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1272354G>A	uc003jcb.1	-	6	2386	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F	TERT_uc003jbz.1_Intron|TERT_uc003jcc.1_Silent_p.F776F|TERT_uc003jca.1_Silent_p.F764F|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	776	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGTGAGCCACGAACTGTCGCA	0.657000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					16			6		0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180335746	180335746	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:180335746G>A	uc003mmp.3	+	1	444	c.210G>A	c.(208-210)ggG>ggA	p.G70G	BTNL8_uc003mmq.3_Silent_p.G70G|BTNL8_uc010jll.3_Silent_p.G70G|BTNL8_uc011dhg.2_Intron|BTNL8_uc010jlm.3_Intron|BTNL8_uc011dhh.2_5'Flank	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	70	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGGGACGGGAAGGACCAGC	0.532000														116			65		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141473	63141473	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63141473G>A	uc001nww.3	+	3	1037	c.769G>A	c.(769-771)Gac>Aac	p.D257N	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.	257					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TGCCATTCGAGACTGGCATAT	0.458000														39			8		0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156838606	156838606	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:156838606C>T	uc003ipf.1	+	9	1020	c.956C>T	c.(955-957)tCa>tTa	p.S319L		NM_005651	NP_005642	P48775	T23O_HUMAN	Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA.	319					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	GACATAGATTCACTGATGACC	0.433000														83			21		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121973125	121973125	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121973125G>A	uc003eew.4	+	1	527	c.89G>A	c.(88-90)gGg>gAg	p.G30E	CASR_uc003eev.4_Missense_Mutation_p.G30E	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	30					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)	CAAAAGAAGGGGGACATTATC	0.517000														135			44		0	0	1	0	0
METTL1	4234	broad.mit.edu	37	12	58163367	58163367	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:58163367G>A	uc010ssd.2	-	3	602	c.554C>T	c.(553-555)gCc>gTc	p.A185V	CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.3_Silent_p.C123C	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	Homo sapiens methyltransferase like 1 (METTL1), transcript variant 1, mRNA.	185						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			TAGCACGTAGGCATATTCTGC	0.527000														96			42		0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180383269	180383269	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:180383269G>A	uc002unn.4	-	4	1097	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	ZNF385B_uc002unj.3_Missense_Mutation_p.R63C|ZNF385B_uc002unl.3_Missense_Mutation_p.R62C|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Missense_Mutation_p.R89C	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	165						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GAGTTAAAGCGAAGCTGACAG	0.353000														100			41		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072763	17072763	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17072763C>T	uc002zlp.1	-	0	938	c.678G>A	c.(676-678)ggG>ggA	p.G226G		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	226					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CACAGAGCTTCCCAGATATTG	0.607000														97			12		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119036026	119036026	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:119036026C>T	uc003ibx.3	+	3	1538	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	NDST3_uc011cgf.1_Intron	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	379	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.P379P(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTGGTGGTTTCCTCACATGTG	0.443000														72			23		0	0	1	0	0
CBX8	57332	broad.mit.edu	37	17	77769234	77769234	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:77769234G>A	uc002jxd.2	-	4	488	c.370C>T	c.(370-372)Ctt>Ttt	p.L124F		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	Homo sapiens chromobox homolog 8 (CBX8), mRNA.	124					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ATGTTTCGAAGGCCCTCCCGG	0.682000														10			8		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2944669	2944669	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2944669C>T	uc022aqr.1	-	48	7814	c.7424G>A	c.(7423-7425)cGa>cAa	p.R2475Q	CSMD1_uc011kwj.2_Missense_Mutation_p.R1805Q|CSMD1_uc010lrg.3_Missense_Mutation_p.R544Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2476	Sushi 14.					integral to membrane		p.R2204P(1)|p.R2204Q(1)|p.R2475P(1)|p.R2475Q(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTGGGTTTCGTCTACAGGT	0.507000														42			12		0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150498668	150498668	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150498668C>T	uc003whx.1	+	1	108	c.30C>T	c.(28-30)gcC>gcT	p.A10A	TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176B_uc003whw.4_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	10						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGAGATGGCCCCGGAGGCCC	0.607000														47			21		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275789	130275789	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:130275789G>A	uc001qgg.4	-	8	2692	c.2334C>T	c.(2332-2334)agC>agT	p.S778S	ADAMTS8_uc001qgf.3_Silent_p.S259S	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	778	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AGGGCCGGAAGCTCTGCAGGC	0.582000														123			74		0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68597661	68597661	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:68597661C>T	uc010cff.3	+	4	1263	c.971C>T	c.(970-972)tCc>tTc	p.S324F	ZFP90_uc002ewb.3_Missense_Mutation_p.P130S|ZFP90_uc002ewc.3_Missense_Mutation_p.P130S|ZFP90_uc002ewd.3_Missense_Mutation_p.S324F|ZFP90_uc002ewe.3_Missense_Mutation_p.S324F	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	324					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CGCAGCTCCTCCCTTGTTCAA	0.502000														52			23		0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29189342	29189342	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:29189342C>T	uc001brf.1	+	2	908	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_000911	NP_000902	P41143	OPRD_HUMAN	Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA.	222					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	TCTTCGCCTTCGTGGTGCCCA	0.647000														39			21		0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434304	72434304	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:72434304C>T	uc004ebi.3	-	0	407	c.25G>A	c.(25-27)Gag>Aag	p.E9K		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	9					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCTGACAGCTCCTTGCGGTTC	0.547000														32			25		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669876	24669876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:24669876G>A	uc001iru.4	+	2	836	c.433G>A	c.(433-435)Gct>Act	p.A145T	KIAA1217_uc001irs.3_Missense_Mutation_p.A65T|KIAA1217_uc001irt.4_Missense_Mutation_p.A145T|KIAA1217_uc010qcy.2_Missense_Mutation_p.A145T|KIAA1217_uc010qcz.2_Missense_Mutation_p.A145T|KIAA1217_uc001irv.1_5'UTR|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	145			A -> G (in dbSNP:rs17506606).		embryonic skeletal system development	cytoplasm		p.A145T(2)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGAGACGTCCGCTGATTCTTT	0.542000														80			21		0	0	1	0	0
PRAMEF8	391002	broad.mit.edu	37	1	12979755	12979755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12979755C>T	uc001aup.3	+	3	1030	c.947C>T	c.(946-948)cCg>cTg	p.P316L		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	316												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTGGTGCCCGAGCATCCGT	0.572000														101			49		0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987410	61987410	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:61987410G>A	uc001vid.4	-	1	1186	c.822C>T	c.(820-822)gtC>gtT	p.V274V	PCDH20_uc010thj.2_Silent_p.V274V	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	247	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L273I(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)		AAGCACCCATGACAATTAGGT	0.527000														40			27		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130383928	130383928	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130383928G>A	uc010htl.3	+	34	6615	c.6584G>A	c.(6583-6585)cGa>cAa	p.R2195Q	COL6A6_uc003eni.4_Missense_Mutation_p.R294Q	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	2195	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGCCCCCACGACCATTCCGA	0.403000														24			11		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21631159	21631159	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:21631159C>T	uc003svc.3	+	13	2662	c.2631C>T	c.(2629-2631)atC>atT	p.I877I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	877	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACAAGTTAATCCAAGGAGATG	0.443000									Kartagener syndrome					74			35		0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142749482	142749482	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142749482C>T	uc011ksv.2	+	0	45	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCTTGGGCTTCTCCTCCTTTG	0.512000														129			49		0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127668746	127668746	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:127668746C>T	uc003vmk.3	-	1	2085	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Missense_Mutation_p.E650K	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	650						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		ATTTGAGTTTCCTGTACCTTG	0.438000														89			35		0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171520495	171520495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:171520495G>A	uc003mbo.1	-	8	1775	c.1475C>T	c.(1474-1476)aCc>aTc	p.T492I		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	492							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTCTCAGAGGTGCAGAGGCT	0.597000														147			51		0	0	1	0	0
SLC2A11	66035	broad.mit.edu	37	22	24226117	24226117	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:24226117C>T	uc011ajc.1	+	8	1552	c.1062C>T	c.(1060-1062)ccC>ccT	p.P354P	SLC2A11_uc002zyl.1_3'UTR|SLC2A11_uc002zym.4_Intron|SLC2A11_uc002zyn.4_Intron|SLC2A11_uc002zyo.4_Intron|SLC2A11_uc002zyp.4_Intron			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	356						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CCACCTCACCCCCGCCCCGTC	0.647000														81			15		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115963932	115963932	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115963932G>A	uc001lbg.1	+	8	1235	c.1082G>A	c.(1081-1083)aGa>aAa	p.R361K	TDRD1_uc001lbf.3_Missense_Mutation_p.R352K|TDRD1_uc001lbh.1_Missense_Mutation_p.R352K|TDRD1_uc001lbi.1_Missense_Mutation_p.R352K|TDRD1_uc010qsc.2_Intron|TDRD1_uc001lbj.3_Missense_Mutation_p.R70K	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	361	Tudor 1.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CCATTAAACAGAATTTACCAC	0.353000														62			18		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940459	144940459	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144940459G>A	uc003zaa.1	-	0	6976	c.6963C>T	c.(6961-6963)ctC>ctT	p.L2321L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2321						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCCTGGAAGAGGGAGATCT	0.706000														335			17		0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174868913	174868913	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:174868913G>A	uc003mcz.3	-	1	2135	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	DRD1_uc021yia.1_Missense_Mutation_p.S397F	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	397					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GTCCTCAGAGGAGCCCACAGC	0.542000														74			6		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140774727	140774727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140774727G>A	uc003lkd.2	+	0	3245	c.2347G>A	c.(2347-2349)Gag>Aag	p.E783K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.E783K|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc011daw.2_5'Flank|PCDHGC5_uc003lkf.2_5'Flank	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	793					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)			CATCAGTCAGGAGGGCTGTGA	0.473000														120			27		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566094	136566094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136566094C>T	uc002tuu.1	-	7	3834	c.3823G>A	c.(3823-3825)Gga>Aga	p.G1275R		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1275	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCCCCACTCCGTTTTCGGTG	0.502000														169			75		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130793	52130793	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52130793G>A	uc002pxe.3	-	5	1343	c.1204C>T	c.(1204-1206)Ctc>Ttc	p.L402F		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	402					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCGGAGCTGAGCCCCCCGTGG	0.632000														81			17		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102500749	102500749	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:102500749C>T	uc001yks.2	+	55	10878	c.10714C>T	c.(10714-10716)Ctt>Ttt	p.L3572F		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3572	AAA 5 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCTGATGACCTTTGCACAGA	0.502000														75			17		0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747555	68747555	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:68747555G>A	uc010rqf.2	-	0	901	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	301						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCTCCTCGCGAAGCGCCTGT	0.677000														65			35		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27190614	27190614	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:27190614G>A	uc011lno.2	+	8	1728	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E	TEK_uc003zqi.4_Missense_Mutation_p.G472E|TEK_uc011lnp.2_Missense_Mutation_p.G325E|TEK_uc003zqj.1_Missense_Mutation_p.G406E	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	472	Ig-like C2-type 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CCTTACTTTGGGGATGGACCA	0.423000														133			43		0	0	1	0	0
GZMA	3001	broad.mit.edu	37	5	54403991	54403991	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:54403991C>T	uc003jpm.3	+	3	433	c.396C>T	c.(394-396)atC>atT	p.I132I		NM_006144	NP_006135	P12544	GRAA_HUMAN	Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.	132	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ATGTGACTATCCTTCATCTAC	0.373000														43			9		0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61290624	61290624	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:61290624C>T	uc001nrv.3	-	7	1082	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	SYT7_uc009ynr.3_Missense_Mutation_p.E419K	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	344	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTCAGCTTCTCCGTGGGGATA	0.547000														94			30		0	0	1	0	0
CCDC70	83446	broad.mit.edu	37	13	52439538	52439538	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:52439538G>A	uc010tgr.1	-	0		c.682C>T			CCDC70_uc001vfu.4_Silent_p.L8L|CCDC70_uc021rjv.1_Silent_p.L8L			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CATTCCGGCTGATAAGGAAGA	0.572000														58			30		0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95540633	95540633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:95540633G>A	uc002stw.1	+	3	919	c.826G>A	c.(826-828)Gac>Aac	p.D276N	LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	276					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CATCCTTCGCGACACCTCCGA	0.687000														15			3		0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247694907	247694907	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247694907G>A	uc021pmb.1	-	0	907	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.R303W	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			ACCATGTGCCGGAGGGCGCTC	0.517000														52			21		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22063225	22063225	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:22063225G>A	uc001rfh.3	-	7	1206	c.1186C>T	c.(1186-1188)Ctt>Ttt	p.L396F	ABCC9_uc001rfi.1_Missense_Mutation_p.L396F	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	396	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAGAGCCTAAGGATTTTATTA	0.328000														73			40		0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56207630	56207630	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:56207630G>A	uc002adj.3	-	0	1700	c.1400C>T	c.(1399-1401)tCc>tTc	p.S467F	NEDD4_uc002adl.3_Intron|NEDD4_uc002adi.3_Missense_Mutation_p.S467F|NEDD4_uc010ugj.2_Missense_Mutation_p.S467F|NEDD4_uc010bfm.3_Missense_Mutation_p.S467F|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	467					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GGATAGACAGGAAATATTTGG	0.358000														121			42		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222294837	222294837	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:222294837G>A	uc002vmq.3	-	14	2573	c.2531C>T	c.(2530-2532)cCc>cTc	p.P844L	EPHA4_uc002vmr.2_Missense_Mutation_p.P844L|EPHA4_uc010zlm.1_Missense_Mutation_p.P785L	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	844	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)		CATTGGAGGGGGTAACCGATA	0.522000														81			28		0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160851014	160851014	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160851014G>A	uc001fxc.3	-	4	610	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	165	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCTCAGCAGGGAGCTGTTTCT	0.567000														90			48		0	0	1	0	0
METTL8	79828	broad.mit.edu	37	2	172195966	172195966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:172195966G>A	uc010zdo.2	-	3	475	c.334C>T	c.(334-336)Cct>Tct	p.P112S	METTL8_uc002ugu.4_Missense_Mutation_p.P112S|METTL8_uc002ugt.4_Missense_Mutation_p.P112S|METTL8_uc002ugs.4_Missense_Mutation_p.P62S|METTL8_uc010zdp.2_Missense_Mutation_p.P67S	NM_024770	NP_079046	B3KW44	B3KW44_HUMAN	Homo sapiens methyltransferase like 8 (METTL8), mRNA.	112							methyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						AGAATTTCAGGAAATTCCCTC	0.358000														101			47		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474453	140474453	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140474453C>T	uc003lil.3	+	0	217	c.79C>T	c.(79-81)Cag>Tag	p.Q27*	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	27					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCATAGCTCAGGCTAGTTG	0.522000														58			27		0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583582	10583582	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10583582G>A	uc011kwz.2	-	5	1022	c.989C>T	c.(988-990)cCc>cTc	p.P330L	SOX7_uc003wtf.3_Missense_Mutation_p.P278L	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	278	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AGGAGATGGGGGACAGCCGGG	0.677000														27			16		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51201152	51201152	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51201152G>A	uc002psx.1	-	11	1828	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	603	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGTCAGAGGGGAACCAGCCAA	0.552000														32			20		0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86954766	86954766	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:86954766G>A	uc001dlt.3	+	7	1530	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	CLCA1_uc001dls.1_Missense_Mutation_p.E363K	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	424	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GTGCTTTAACGAGGTCAAACA	0.468000														71			16		0	0	1	0	0
PRR23A	729627	broad.mit.edu	37	3	138724463	138724463	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:138724463G>A	uc011bms.2	-	0	648	c.648C>T	c.(646-648)ttC>ttT	p.F216F		NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN	Homo sapiens proline rich 23A (PRR23A), mRNA.	216	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						ATTCCGGGTCGAAGAAGGGGC	0.662000														10			5		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131831414	131831414	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:131831414C>T	uc003vra.4	-	27	5139	c.4910G>A	c.(4909-4911)cGg>cAg	p.R1637Q	PLXNA4_uc003vqz.4_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1637						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATAGGTGTCCGTGAGCGGAG	0.602000														180			62		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18624986	18624986	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:18624986C>T	uc003sui.3	+	1	146	c.105C>T	c.(103-105)ccC>ccT	p.P35P	HDAC9_uc003sue.3_Silent_p.P35P|HDAC9_uc011jyd.2_Silent_p.P35P|HDAC9_uc003suh.3_Silent_p.P35P|HDAC9_uc003suj.3_Silent_p.P35P|HDAC9_uc011jya.2_Silent_p.P77P|HDAC9_uc003sua.1_Silent_p.P54P|HDAC9_uc003sud.2_Silent_p.P35P|HDAC9_uc011jyc.2_Silent_p.P35P|HDAC9_uc011jyb.2_Silent_p.P35P|HDAC9_uc003suf.2_Silent_p.P63P|HDAC9_uc010kud.2_Silent_p.P35P|HDAC9_uc011jye.2_Silent_p.P4P|HDAC9_uc011jyf.2_Silent_p.P4P	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	35					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.P35P(4)|p.P77P(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGATGATGCCCGTGGTGGACC	0.483000														150			20		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18524229	18524229	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:18524229C>T	uc001rdt.3	+	11	1857	c.1741C>T	c.(1741-1743)Cca>Tca	p.P581S	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.P622S|PIK3C2G_uc010sic.2_Missense_Mutation_p.P400S	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	581					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GACTTGTCTTCCACTGTTTCC	0.358000														32			9		0	0	1	0	0
TTC1	7265	broad.mit.edu	37	5	159492045	159492045	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:159492045C>T	uc003lxu.3	+	7	902	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_003314	NP_003305	Q99614	TTC1_HUMAN	Homo sapiens tetratricopeptide repeat domain 1 (TTC1), mRNA.	284					protein folding		unfolded protein binding	p.F284L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		CCATCAATTTCGTTCAAAATC	0.423000														72			11		0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182195	100182195	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:100182195C>T	uc001ygo.3	+	7	742	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	CYP46A1_uc001ygp.3_Missense_Mutation_p.R95C	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	248					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGAGAGCATTCGCTTCCTGCG	0.607000														59			34		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390946	197390946	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197390946C>T	uc001gtz.3	+	5	2197	c.1988C>T	c.(1987-1989)tCa>tTa	p.S663L	CRB1_uc010poz.2_Missense_Mutation_p.S594L|CRB1_uc009wza.3_Missense_Mutation_p.S551L|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.S663L|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.S144L|CRB1_uc001gub.1_Missense_Mutation_p.S312L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	663	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCTGGCTCATCATTAAATGTC	0.443000														162			17		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91347554	91347554	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:91347554G>A	uc001tbj.3	-	0	1400	c.966C>T	c.(964-966)gtC>gtT	p.V322V		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	322	Glu-rich.									NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						cagcctcttcgacctcttctt	0.557000														31			9		0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46672983	46672983	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46672983C>T	uc010jzf.3	-	10	1365	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R	PLA2G7_uc021zae.1_Missense_Mutation_p.G366R	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	366					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AGCATGTGTCCAATTATTTTG	0.333000														64			9		0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123302375	123302375	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:123302375C>T	uc003vky.2	+	1	892	c.735C>T	c.(733-735)ttC>ttT	p.F245F		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	245						cytoskeleton	actin binding|tropomyosin binding										TGAAGACGTTCAGTCTGGCCA	0.498000														47			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084263	9084263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9084263C>T	uc002mkp.3	-	0	7756	c.7552G>A	c.(7552-7554)Ggc>Agc	p.G2518S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2518	Ser-rich.|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						TTGAGAAAGCCCATGGCAGGT	0.512000														33			13		0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105207212	105207212	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105207212C>T	uc001ypd.3	+	6	695	c.621C>T	c.(619-621)ttC>ttT	p.F207F	ADSSL1_uc001ype.3_Silent_p.F250F|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA.	207					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	AGTCGATGTTCCCCACCCTGG	0.602000														294			17		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153652206	153652206	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153652206C>T	uc001fcs.4	+	0	1043	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	NPR1_uc010pdz.2_5'Flank	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	208					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CATGCGGGTCCGCGACCGCCT	0.657000														18			4		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026768	79026768	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:79026768C>T	uc003kgc.3	+	1	2252	c.2180C>T	c.(2179-2181)tCt>tTt	p.S727F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	727						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAGGTGTTTCTGAGTACATG	0.453000														60			30		0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5153839	5153839	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:5153839C>T	uc001qni.3	+	0	755	c.526C>T	c.(526-528)Ctc>Ttc	p.L176F		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	176						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CGACGGTATCCTCTACTACTA	0.652000														73			8		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32187941	32187941	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32187941G>A	uc003obb.3	-	6	1419	c.1280C>T	c.(1279-1281)cCc>cTc	p.P427L	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.P427L	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	427	EGF-like 10.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGGCAGGTGGGCCCCGAATA	0.612000														39			15		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48729211	48729211	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:48729211G>A	uc001zwx.2	-	52	6838	c.6443C>T	c.(6442-6444)tCc>tTc	p.S2148F	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2148	EGF-like 36; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCAGCGATAGGAACCATCTGT	0.358000														71			25		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134125848	134125848	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:134125848G>A	uc003ytw.3	+	44	7795	c.7754_splice	c.e44+1	p.R2585_splice	TG_uc010mdw.3_Splice_Site_p.R1344_splice|TG_uc011ljb.2_Splice_Site_p.R954_splice|TG_uc011ljc.2_Splice_Site_p.R718_splice	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2585					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGCCACCCGGTAAGCTAAGC	0.532000														16			7		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121383391	121383391	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:121383391C>T	uc003yox.3	+	48	5577	c.5312_splice	c.e48-1	p.A1771_splice		NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1771	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCCTCTTTAGCTCCCCATCCA	0.517000														211			18		0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102589725	102589725	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:102589725G>A	uc010mbu.3	+	6	1311	c.981G>A	c.(979-981)gcG>gcA	p.A327A		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	327						cytoplasm|nucleus	DNA binding	p.A327P(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AGCATACGGCGAAGCAGAGGG	0.498000														40			5		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20651245	20651245	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:20651245G>A	uc001ytg.3	-	16	2412	c.1703C>T	c.(1702-1704)tCt>tTt	p.S568F	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.S568F|HERC2P3_uc010tyy.2_Missense_Mutation_p.S568F					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AACTGTGGCAGAAGCACCTTG	0.502000														44			18		0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45877960	45877960	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:45877960G>A	uc001jce.3	+	1	279	c.180G>A	c.(178-180)gaG>gaA	p.E60E	ALOX5_uc009xmt.3_Silent_p.E60E|ALOX5_uc010qfg.2_Silent_p.E60E|ALOX5_uc021ppr.1_Silent_p.E60E	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	60	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CTGTGGACGAGGAACTGGGCG	0.542000														48			18		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475273	140475273	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140475273C>T	uc003lil.3	+	0	1037	c.899C>T	c.(898-900)tCg>tTg	p.S300L	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	300	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S300*(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTGCAAAATCGGGAGAACTG	0.413000														73			38		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35774065	35774065	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35774065G>A	uc003jjo.3	+	27	4131	c.4020G>A	c.(4018-4020)agG>agA	p.R1340R	SPEF2_uc003jjp.1_Silent_p.R826R|SPEF2_uc003jjr.3_5'UTR	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1340					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAATCAAAAGGAAAAATGAAC	0.388000														68			9		0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53853075	53853075	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53853075C>T	uc001sdl.4	+	5	613	c.263C>T	c.(262-264)aCc>aTc	p.T88I	PCBP2_uc001sde.4_Missense_Mutation_p.T88I|PCBP2_uc001sdi.4_Missense_Mutation_p.T88I|PCBP2_uc001sdd.4_Missense_Mutation_p.T88I|PCBP2_uc001sdf.4_Missense_Mutation_p.T88I|PCBP2_uc001sdc.4_Missense_Mutation_p.T88I|PCBP2_uc001sdb.4_Missense_Mutation_p.T88I|PCBP2_uc010soh.1_Missense_Mutation_p.T88I|PCBP2_uc001sdg.1_Non-coding_Transcript	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA.	88					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						AGCTCTATGACCAATAGCACA	0.483000														98			31		0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076221	87076221	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:87076221C>T	uc011lfy.2	-	1	825	c.825G>A	c.(823-825)ctG>ctA	p.L275L		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	275	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			ATTTGCCTTTCAGAATCTTCC	0.403000														42			10		0	0	1	0	0
GTPBP3	84705	broad.mit.edu	37	19	17450006	17450006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17450006C>T	uc002ngg.4	+	4	930	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	GTPBP3_uc010xpo.2_Missense_Mutation_p.R269C|GTPBP3_uc010ear.2_Non-coding_Transcript|GTPBP3_uc010eas.3_Missense_Mutation_p.R247C|GTPBP3_uc002ngh.4_Missense_Mutation_p.R247C	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	247					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GCAGAGGCTCCGCTCAGGGGT	0.662000														30			19		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128362828	128362828	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:128362828G>A	uc003kuy.3	+	7	1654	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	SLC27A6_uc003kuz.3_Missense_Mutation_p.E420K	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	420					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TCTTGCAGGAGAACCTGGACT	0.383000														84			37		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124385898	124385898	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124385898C>T	uc003ehg.3	+	46	6695	c.6568C>T	c.(6568-6570)Ccc>Tcc	p.P2190S	KALRN_uc003ehi.3_Missense_Mutation_p.P531S|KALRN_uc003ehk.3_Missense_Mutation_p.P493S|KALRN_uc011bjz.2_Missense_Mutation_p.P282S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2189	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGACAATGATCCCTGCAAGTT	0.433000														74			29		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065757	35065757	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35065757C>T	uc003jjm.3	-	9	1862	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.D334N|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	435					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCACACACATCAGTAATATTG	0.483000														173			27		0	0	1	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122007186	122007186	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:122007186C>T	uc002tmx.3	-	2	345	c.252G>A	c.(250-252)aaG>aaA	p.K84K	TFCP2L1_uc010flr.3_Silent_p.K84K	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	84					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					AGTCTCCCAGCTTCCGATTCT	0.458000														75			30		0	0	1	0	0
ZNF890P	645700	broad.mit.edu	37	7	5167360	5167360	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:5167360G>A	uc003snu.1	-	1	135	c.24C>T	c.(22-24)ttC>ttT	p.F8F	ZNF890P_uc010ksu.1_Intron|ZNF890P_uc011jwf.1_Silent_p.F8F					Homo sapiens zinc finger protein 890, pseudogene (ZNF890P), non-coding RNA.																		CCACGTCCCCGAATGACAGTG	0.557000														16			4		0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59189495	59189495	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59189495C>T	uc010rkt.2	-	0	932	c.932G>A	c.(931-933)gGg>gAg	p.G311E		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P310H(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GTGAGAAATCCCGGGGTCCCT	0.413000														113			48		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113283333	113283333	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113283333C>T	uc001pnz.3	-	5	1404	c.1083G>A	c.(1081-1083)agG>agA	p.R361R	DRD2_uc010rwv.2_Silent_p.R360R|DRD2_uc001poa.4_Silent_p.R361R|DRD2_uc001pob.4_Silent_p.R332R	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	361	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GGGAGAGCTTCCTACGGCTCA	0.567000														56			25		0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1808290	1808290	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:1808290C>T	uc003wpr.3	+	3	599	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F	ARHGEF10_uc003wpq.1_Missense_Mutation_p.L165F|ARHGEF10_uc003wps.3_Missense_Mutation_p.L141F|ARHGEF10_uc003wpt.3_Missense_Mutation_p.L55F|ARHGEF10_uc010lrd.2_Missense_Mutation_p.L55F|ARHGEF10_uc003wpu.3_Missense_Mutation_p.L55F	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	165					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CAACCTGCCCCTCCTGCTGCC	0.662000														51			27		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102956585	102956585	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:102956585G>A	uc002tbu.1	+	3	571	c.300G>A	c.(298-300)gcG>gcA	p.A100A	IL1RL1_uc010ywa.2_5'UTR|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Silent_p.A100A	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	100	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTGGATATGCGAATGTCACCA	0.299000														30			7		0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153072226	153072226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:153072226C>T	uc004fja.1	-	3	725	c.475G>A	c.(475-477)Gag>Aag	p.E159K	PDZD4_uc004fiy.1_Missense_Mutation_p.E78K|PDZD4_uc004fiz.1_Missense_Mutation_p.E153K|PDZD4_uc004fix.2_Missense_Mutation_p.E57K|PDZD4_uc011mze.1_Missense_Mutation_p.E44K|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	153	PDZ.					cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGTCCTCCTCGTCGTCCGTG	0.632000														48			7		0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133734298	133734298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133734298G>A	uc003ytn.3	-	6	912	c.683C>T	c.(682-684)tCt>tTt	p.S228F	TMEM71_uc003ytm.2_Missense_Mutation_p.S68F|TMEM71_uc003yto.3_Missense_Mutation_p.S184F	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	Homo sapiens transmembrane protein 71 (TMEM71), transcript variant 1, mRNA.	247						integral to membrane		p.S228Y(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGCACATGCAGAAATGATTAA	0.348000														118			21		0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632848	143632848	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143632848G>A	uc011ktv.2	+	0	523	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CAAGTTTATTGATCACATATC	0.498000														72			31		0	0	1	0	0
DIABLO	56616	broad.mit.edu	37	12	122702927	122702927	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:122702927G>A	uc010tab.2	-	3	1006	c.201C>T	c.(199-201)tcC>tcT	p.S67S	DIABLO_uc010taa.2_Silent_p.S14S|DIABLO_uc010tac.2_Intron|DIABLO_uc010tad.2_Intron|VPS33A_uc001ucc.3_Non-coding_Transcript	NM_019887	NP_063940	Q9NR28	DBLOH_HUMAN	Homo sapiens diablo, IAP-binding mitochondrial protein (DIABLO), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	67				Missing (in Ref. 2; BAB71568).	activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CACTACTAAGGGAATGAGGCT	0.398000														82			13		0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132197785	132197785	+	Silent	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:132197785A>C	uc003kxz.1	-	1	1113	c.861T>G	c.(859-861)ccT>ccG	p.P287P	GDF9_uc011cxj.1_Silent_p.P199P	NM_005260	NP_005251	O60383	GDF9_HUMAN	Homo sapiens growth differentiation factor 9 (GDF9), mRNA.	287					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCCTGGGAAGGCCTCCTTT	0.512000														49			21		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228402555	228402555	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228402555C>T	uc009xez.1	+	4	1628	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S	OBSCN_uc001hsn.3_Silent_p.S528S|AK056556_uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	528	Fibronectin type-III 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGAGAGTTCCGTGATTCTCA	0.592000														19			10		0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894517	123894517	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123894517C>T	uc010sad.2	+	0	798	c.798C>T	c.(796-798)gtC>gtT	p.V266V		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCAGGGACGTCGTGGATGGAG	0.512000														127			59		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577687	92577687	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92577687G>A	uc001pdj.4	+	17	11171	c.11154G>A	c.(11152-11154)ctG>ctA	p.L3718L	FAT3_uc001pdi.4_Silent_p.L158L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3718					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGCCTACCTGATCCAGAAGC	0.547000										TCGA Ovarian(4;0.039)				21			3		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81914540	81914540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:81914540C>T	uc002fgt.3	+	7	852	c.674C>T	c.(673-675)tCg>tTg	p.S225L	PLCG2_uc010chg.1_Missense_Mutation_p.S225L	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	225					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AAAAAGGATTCGTCCGTGTTC	0.507000														94			24		0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200008813	200008813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:200008813C>T	uc001gvb.3	+	1	298	c.92C>T	c.(91-93)tCc>tTc	p.S31F	NR5A2_uc001gvc.3_Intron|NR5A2_uc009wzh.3_5'UTR|NR5A2_uc010pph.2_5'Flank|NR5A2_uc009wzg.1_Non-coding_Transcript	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	31					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CGACACGGATCCCCCATCCCC	0.647000														113			30		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30026560	30026560	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:30026560G>A	uc001zcr.3	-	11	1909	c.1434C>T	c.(1432-1434)atC>atT	p.I478I	TJP1_uc010azl.3_Silent_p.I466I|TJP1_uc001zcq.3_Silent_p.I482I|TJP1_uc001zcs.3_Silent_p.I478I	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	478	PDZ 3.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTTCTCTTATGATATTTGTAA	0.363000														77			29		0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122805572	122805572	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:122805572C>T	uc001pym.3	+	4	1720	c.1423C>T	c.(1423-1425)Caa>Taa	p.Q475*		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	475										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACACAAAGACCAAGAAGAGAA	0.398000														138			49		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121008394	121008394	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121008394G>A	uc010rzo.2	+	9	3206	c.3206G>A	c.(3205-3207)aGg>aAg	p.R1069K		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1069					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAGACAACAGGGTCCACTGC	0.572000														46			9		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79028721	79028721	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:79028721C>T	uc003kgc.3	+	1	4205	c.4133C>T	c.(4132-4134)tCt>tTt	p.S1378F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1378						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACAGATTCATCTCTTATCACT	0.393000														30			16		0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49898437	49898437	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49898437C>T	uc003cxt.1	-	6	770	c.577G>A	c.(577-579)Ggc>Agc	p.G193S	CAMKV_uc011bcy.1_Missense_Mutation_p.G118S|CAMKV_uc003cxv.1_Intron|CAMKV_uc003cxw.1_Missense_Mutation_p.G25S|CAMKV_uc003cxx.1_Missense_Mutation_p.G25S|CAMKV_uc003cxu.2_Missense_Mutation_p.G193S|CAMKV_uc011bcz.1_Missense_Mutation_p.G156S|CAMKV_uc011bda.1_Missense_Mutation_p.G150S|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	193	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGCTGCCGGCCTACCACCTCT	0.572000														34			16		0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521143	39521143	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39521143G>A	uc002hwl.3	-	5	1030	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	329	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				AGGTCACTGCGGATCTCCGCC	0.627000														62			52		0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52902752	52902752	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:52902752G>A	uc003pbh.2	-	3	631	c.141C>T	c.(139-141)aaC>aaT	p.N47N	ICK_uc003pbi.2_Silent_p.N47N|ICK_uc003pbj.3_Silent_p.N47N	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	47	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					CCTCCCGAAGGTTCATGCATT	0.299000														47			22		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130281490	130281490	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:130281490C>T	uc001qgg.4	-	5	1930	c.1572G>A	c.(1570-1572)gtG>gtA	p.V524V	ADAMTS8_uc001qgf.3_Silent_p.V5V	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	524	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTCCATCTGCCACGGGCTGCA	0.582000														47			16		0	0	1	0	0
CNTFR	1271	broad.mit.edu	37	9	34557641	34557641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:34557641G>A	uc003zup.2	-	5	781	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	CNTFR_uc003zuq.2_Missense_Mutation_p.R163C|CNTFR_uc022bgg.1_Missense_Mutation_p.R163C	NM_147164	NP_671693	P26992	CNTFR_HUMAN	Homo sapiens ciliary neurotrophic factor receptor (CNTFR), transcript variant 1, mRNA.	163	Fibronectin type-III 1.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		ATGTGGCAGCGGTTCTTGAGG	0.537000														62			24		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071953	9071953	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9071953G>A	uc002mkp.3	-	2	15697	c.15493C>T	c.(15493-15495)Cct>Tct	p.P5165S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5167	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						GATGTGGAAGGAGCTGGATCT	0.488000														195			57		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427031	135427031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:135427031C>T	uc004ezu.1	+	5	1457	c.1166C>T	c.(1165-1167)tCa>tTa	p.S389L	GPR112_uc010nsb.1_Missense_Mutation_p.S184L|GPR112_uc010nsc.1_Missense_Mutation_p.S156L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	389					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTACAACTTCAGCAATTAAA	0.368000														29			48		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208804	58208804	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:58208804C>T	uc001vhq.1	+	0	3016	c.2124C>T	c.(2122-2124)ctC>ctT	p.L708L	PCDH17_uc010aec.1_Silent_p.L708L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	708					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGCTGCCGCTCATCGTGACTC	0.592000														58			23		0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111156379	111156379	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:111156379G>A	uc001plc.3	+	4	457	c.310_splice	c.e4-1	p.R104_splice		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	104										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		TCTCCTCAGAGGGACTCATGG	0.587000														69			9		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175048623	175048623	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175048623C>T	uc001gkl.1	+	2	677	c.564C>T	c.(562-564)tgC>tgT	p.C188C	TNN_uc010pmx.1_Silent_p.C188C	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	188	EGF-like 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCTGCCTGTGCCATGAGCCCT	0.746000														8			5		0	0	1	0	0
GDF6	392255	broad.mit.edu	37	8	97157007	97157007	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:97157007C>T	uc003yhp.3	-	1	1252	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	Homo sapiens growth differentiation factor 6 (GDF6), mRNA.	384					BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CGCATACACCCTCGCAGTGAT	0.637000														24			18		0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132047130	132047130	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:132047130G>A	uc010htp.2	+	1	230	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	ACPP_uc003eon.3_Missense_Mutation_p.R47Q|ACPP_uc003eop.4_Missense_Mutation_p.R47Q	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	47						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CATGGAGACCGAAGTCCCATT	0.433000														52			20		0	0	1	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715359	99715359	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:99715359G>A	uc011cuw.1	-	3		c.551C>T								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		GTGCGCAGCAGGGACTCATGG	0.597000														2			3		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92797198	92797198	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:92797198G>A	uc010tif.2	+	6	1883	c.1517G>A	c.(1516-1518)gGa>gAa	p.G506E		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	506						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GGTTGCGGGGGATCAGGAAGT	0.433000														66			47		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151729515	151729515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:151729515G>A	uc010ipj.3	-	31	5585	c.5341C>T	c.(5341-5343)Cca>Tca	p.P1781S	LRBA_uc003ilt.4_Missense_Mutation_p.P440S|LRBA_uc003ilu.4_Missense_Mutation_p.P1781S	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1781						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCAACTGTTGGAACTGAGGGC	0.294000														69			33		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55377838	55377838	+	Missense_Mutation	SNP	G	A	A	rs138770759	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55377838G>A	uc002qhl.4	+	7	1182	c.1119G>A	c.(1117-1119)atG>atA	p.M373I	KIR3DL2_uc002qho.4_Missense_Mutation_p.M373I|KIR3DL2_uc010esh.3_Missense_Mutation_p.M356I			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	373					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTGCTGTAATGGACCAAGAGC	0.552000														120			42		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113276350	113276350	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113276350G>A	uc010mtz.3	-	3	1338	c.1001C>T	c.(1000-1002)cCa>cTa	p.P334L	SVEP1_uc010mua.1_Missense_Mutation_p.P334L|SVEP1_uc004beu.2_Missense_Mutation_p.P334L|SVEP1_uc004bev.3_Missense_Mutation_p.P78L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	334					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GATTCCTCCTGGTGAGCCTTC	0.512000														9			7		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247597449	247597450	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247597449_247597450CC>TT	uc001icr.3	+	6	2510_2511	c.2372_2373CC>TT	c.(2371-2373)tcc>tTT	p.S791F	NLRP3_uc001ics.3_Missense_Mutation_p.S791F|NLRP3_uc001icu.3_Missense_Mutation_p.S791F|NLRP3_uc001icw.3_Missense_Mutation_p.S734F|NLRP3_uc001icv.3_Missense_Mutation_p.S734F|NLRP3_uc010pyw.2_Intron	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	791					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTCGACATCTCCTTGGTCCTCA	0.569000														99			41		0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119996563	119996563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:119996563G>A	uc001pwz.3	-	3	1293	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L	TRIM29_uc010rzi.2_Missense_Mutation_p.P129L|TRIM29_uc010rzj.2_Missense_Mutation_p.P123L|TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	390					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CAGGGGTGGGGGGAGAGAGTA	0.537000														63			25		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511109	169511109	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169511109G>A	uc001ggg.1	-	12	3364	c.3219C>T	c.(3217-3219)tcC>tcT	p.S1073S		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1073	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATGTTTCATTGGATTTATGAA	0.423000														266			77		0	0	1	0	0
IL12A	3592	broad.mit.edu	37	3	159708044	159708044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:159708044C>T	uc003fcx.3	+	1	430	c.209C>T	c.(208-210)cCa>cTa	p.P70L	AK097161_uc003fcw.1_Intron	NM_000882	NP_000873	P29459	IL12A_HUMAN	Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) (IL12A), mRNA.	36					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NK T cell activation|positive regulation of T cell mediated cytotoxicity|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of smooth muscle cell apoptosis|positive regulation of tyrosine phosphorylation of Stat4 protein|response to UV-B|response to lipopolysaccharide|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGAATGTTCCCATGCCTTCAC	0.602000														60			17		0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179545793	179545793	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:179545793G>A	uc003mlq.3	-	7	1278	c.981C>T	c.(979-981)atC>atT	p.I327I	RASGEF1C_uc003mlr.3_Silent_p.I327I|RASGEF1C_uc003mlp.4_Silent_p.I176I	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	327	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTACCTCGAGGATGAAAAACT	0.607000														119			8		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219903697	219903697	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219903697G>A	uc002vjl.1	-	2	158	c.74C>T	c.(73-75)tCt>tTt	p.S25F	CCDC108_uc010zkp.1_Intron|CCDC108_uc010zkq.1_Intron|CCDC108_uc002vjn.3_Intron	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	25						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGAAAGAAGAGGCAAATGA	0.408000														77			35		0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1116178	1116178	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1116178C>T	uc001acy.2	+	7	844	c.693C>T	c.(691-693)acC>acT	p.T231T	AK128833_uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Silent_p.T231T|TTLL10_uc001acz.2_Silent_p.T158T	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	231	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGCTCAGCACCCTTCGGGGAC	0.692000														15			8		0	0	1	0	0
LOC126536	126536	broad.mit.edu	37	19	16131429	16131429	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16131429G>A	uc002nbw.2	+	2		c.260G>A			LOC126536_uc002nca.3_5'Flank|LOC126536_uc010xow.2_5'Flank|LOC126536_uc002ncb.1_5'Flank					Homo sapiens uncharacterized LOC126536 (LOC126536), non-coding RNA.																		CAGTGCCCTGGAAGTGAAGGT	0.622000														28			13		0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49167855	49167855	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49167855G>A	uc002pkb.3	-	2	897	c.801C>T	c.(799-801)ttC>ttT	p.F267F	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|NTN5_uc002pkc.3_Silent_p.F267F	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	Homo sapiens netrin 5 (NTN5), mRNA.	267	Laminin EGF-like 2.					extracellular region		p.F267L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCCTGCGGCTGAAGATAGGCT	0.682000														39			9		0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84733647	84733647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:84733647G>A	uc021pvc.1	+	6	1415	c.1388G>A	c.(1387-1389)gGa>gAa	p.G463E	NRG3_uc010qlz.1_Missense_Mutation_p.G462E|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.G463E|NRG3_uc001kcp.2_Missense_Mutation_p.G242E|NRG3_uc001kcq.2_Missense_Mutation_p.G113E|NRG3_uc021pvd.1_Missense_Mutation_p.G242E|NRG3_uc021pve.1_Missense_Mutation_p.G267E|NRG3_uc021pvf.1_Missense_Mutation_p.G113E|NRG3_uc021pvg.1_Missense_Mutation_p.G267E|NRG3_uc021pvh.1_Missense_Mutation_p.G51E|NRG3_uc021pvi.1_Missense_Mutation_p.G293E|NRG3_uc021pvk.1_5'UTR|NRG3_uc001kcr.2_Missense_Mutation_p.G113E|NRG3_uc021pvl.1_Missense_Mutation_p.G113E	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	463					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCTGACAGAGGAAGCCAGTCT	0.527000														59			5		0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39755817	39755817	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:39755817G>A	uc010gnw.3	-	11	1264	c.969C>T	c.(967-969)ttC>ttT	p.F323F	ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Silent_p.F316F|ERG_uc011aek.2_Silent_p.F224F|ERG_uc010gnv.3_Silent_p.F200F|ERG_uc010gnx.3_Silent_p.F299F|ERG_uc011ael.2_Silent_p.F323F|ERG_uc002yxb.3_Silent_p.F299F	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	323					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				GCTCCAGGAGGAACTGCCAAA	0.587000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									61			16		0	0	1	0	0
GPBP1	65056	broad.mit.edu	37	5	56527007	56527007	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:56527007C>T	uc003jrk.4	+	3	348	c.291C>T	c.(289-291)taC>taT	p.Y97Y	GPBP1_uc003jrh.4_Silent_p.Y90Y|GPBP1_uc003jri.4_5'UTR|GPBP1_uc003jrj.4_Silent_p.Y97Y|GPBP1_uc021xyv.1_5'UTR	NM_001127236	NP_001190175	Q86WP2	GPBP1_HUMAN	Homo sapiens GC-rich promoter binding protein 1 (GPBP1), transcript variant 2, mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GAGGTGGATACCATGGTGGAA	0.398000														86			6		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192248	125192248	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:125192248C>T	uc010flu.3	+	4	1081	c.717C>T	c.(715-717)gcC>gcT	p.A239A	CNTNAP5_uc002tno.3_Silent_p.A239A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	239	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGAGGCTCGCCCTACACCTCA	0.537000														15			4		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28968350	28968350	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28968350G>A	uc002kwr.2	+	3	372	c.237G>A	c.(235-237)tcG>tcA	p.S79S	DSG4_uc002kwq.2_Silent_p.S79S	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	79	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACTGCGAATCGAACCAGAAGA	0.413000														57			21		0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91169121	91169122	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:91169121_91169122CC>TT	uc002bpp.3	+	9	969_970	c.863_864CC>TT	c.(862-864)gcc>gTT	p.A288V	CRTC3_uc002bpo.3_Missense_Mutation_p.A288V	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	288					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CCCCTGCCAGCCTCCCTGGACA	0.540000			T	MAML2	salivary gland mucoepidermoid									531			71		0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150715859	150715859	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150715859G>A	uc011kvc.2	-	5	1642	c.1566C>T	c.(1564-1566)ccC>ccT	p.P522P	ATG9B_uc003wig.4_Intron	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	522					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGTGCGCAGGGGCGCGGGGG	0.741000														6			3		0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524815	26524815	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26524815C>T	uc010oez.2	+	5	717	c.717C>T	c.(715-717)ttC>ttT	p.F239F	CATSPER4_uc010oey.1_Silent_p.F61F|CATSPER4_uc009vsf.3_Intron	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	239					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGTGCATTCGTGCCCAAGC	0.512000														311			132		0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4242186	4242186	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:4242186C>T	uc002cvz.4	-	5	1403	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	923	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	p.E464K(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TTTGGTGTTTCGCTACACCCT	0.557000														114			64		0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242814477	242814477	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242814477G>A	uc010fzu.1	+	1	793	c.770G>A	c.(769-771)gGg>gAg	p.G257E		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	257						integral to membrane											GCCATGCCTGGGGGCAAAGGC	0.667000														39			19		0	0	1	0	0
SNHG11	128439	broad.mit.edu	37	20	37077835	37077835	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:37077835C>T	uc002xip.2	+	0		c.1110C>T			SNHG11_uc002xiq.1_Intron|SNHG11_uc002xir.1_Intron|SNHG11_uc002xis.1_Intron|SNHG11_uc002xit.1_Intron|SNHG11_uc002xiu.1_Intron					Homo sapiens small nucleolar RNA, H/ACA box 39 (SNORA39), small nucleolar RNA.																		CCAATATTTTCCGATTGTTTT	0.418000														51			10		0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59271314	59271314	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:59271314C>T	uc001sqr.3	-	14	2650	c.2404G>A	c.(2404-2406)Gat>Aat	p.D802N	LRIG3_uc009zqh.3_Missense_Mutation_p.D742N|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	802						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CATCCGTCATCGTCTAACGAT	0.572000			T	ROS1	NSCLC									40			21		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1258188	1258188	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1258188G>A	uc001lta.3	+	24	3150	c.3091G>A	c.(3091-3093)Gac>Aac	p.D1031N	MUC5B_uc009yct.2_Missense_Mutation_p.D1031N	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1031	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAACTTCGACGACAATGCCAT	0.672000														7			3		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	819602	819602	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:819602G>A	uc002cjz.1	-	15	2988	c.2988C>T	c.(2986-2988)ccC>ccT	p.P996P	MIR662_uc021tac.1_5'Flank	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	645					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CCATCGCCAGGGGCAGGTACC	0.652000														22			10		0	0	1	0	0
ENDOV	284131	broad.mit.edu	37	17	78399335	78399335	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:78399335C>T	uc021ueo.1	+	6	657	c.629C>T	c.(628-630)tCc>tTc	p.S210F	ENDOV_uc002jyk.3_Missense_Mutation_p.S165F|ENDOV_uc002jyl.2_Missense_Mutation_p.S165F|ENDOV_uc021uep.1_Non-coding_Transcript|ENDOV_uc021ueq.1_Non-coding_Transcript|ENDOV_uc021uer.1_Non-coding_Transcript|ENDOV_uc021ues.1_Non-coding_Transcript	NM_173627	NP_775898	Q8N8Q3	ENDOV_HUMAN	Homo sapiens endonuclease V (ENDOV), transcript variant 1, mRNA.	210					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						CTCTACATCTCCGTGGGCCAC	0.692000								Direct reversal of damage						6			5		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131878824	131878824	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:131878824G>A	uc003vra.4	-	13	3082	c.2853C>T	c.(2851-2853)ttC>ttT	p.F951F		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	951	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GACTCACCATGAAGTAATAGA	0.592000														51			14		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42221651	42221651	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42221651C>T	uc002orl.3	+	5	1358	c.1237_splice	c.e5+1	p.Y413_splice	CEACAM5_uc002orj.1_Splice_Site_p.Y412_splice	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	413	Ig-like 4.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGAATGTCCTCTGTGAGTATC	0.512000														154			66		0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14355033	14355033	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:14355033T>C	uc010uza.2	+	16	3187	c.3032T>C	c.(3031-3033)cTg>cCg	p.L1011P	MKL2_uc002dcg.3_Missense_Mutation_p.L961P|MKL2_uc002dcj.3_Missense_Mutation_p.L256P	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	1000					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCCTTCTCTCTGATCGAGGAC	0.488000														62			7		0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7950069	7950069	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7950069G>A	uc010rbh.2	-	0	141	c.141C>T	c.(139-141)gtC>gtT	p.V47V		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGAGACGATGACTATAATAA	0.463000														98			41		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79029900	79029900	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:79029900C>T	uc003kgc.3	+	1	5384	c.5312C>T	c.(5311-5313)cCa>cTa	p.P1771L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1771						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAATAGGCCCATTACCACCA	0.408000														70			31		0	0	1	0	0
LMF1	64788	broad.mit.edu	37	16	961030	961030	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:961030G>A	uc021tae.1	-	3	568	c.564C>T	c.(562-564)tgC>tgT	p.C188C	LMF1_uc010uuu.2_5'UTR|LMF1_uc021tad.1_Silent_p.C19C|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_5'UTR|LMF1_uc010uuv.1_Non-coding_Transcript	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA.	188						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				TCCACAGAGGGCACAGGAAGA	0.557000														27			12		0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51133251	51133251	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51133251C>T	uc002pst.3	-	2	1486	c.852G>A	c.(850-852)cgG>cgA	p.R284R	SYT3_uc002psv.3_Silent_p.R284R|SYT3_uc010ycd.2_Silent_p.R284R	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	284						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCCCACCGCTCCGCCGGCCAC	0.662000														69			26		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78799654	78799654	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:78799654G>A	uc004akc.2	+	16	2801	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K	PCSK5_uc004ajz.3_Missense_Mutation_p.E755K|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Missense_Mutation_p.E29K	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	755	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TAACTGTACAGAATGTAGGGA	0.338000														23			22		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762808	130762808	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:130762808G>A	uc003qcb.3	+	1	3619	c.1241G>A	c.(1240-1242)cGg>cAg	p.R414Q	TMEM200A_uc003qca.3_Missense_Mutation_p.R414Q|TMEM200A_uc010kfh.3_Missense_Mutation_p.R414Q|TMEM200A_uc010kfi.3_Missense_Mutation_p.R414Q|TMEM200A_uc021zfg.1_Missense_Mutation_p.R414Q	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	414						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)		GCAGAACAACGGAAACATCCA	0.483000														33			27		0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201687649	201687649	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201687649C>T	uc021phi.1	+	2	1339	c.992C>T	c.(991-993)cCc>cTc	p.P331L	NAV1_uc001gwu.3_Missense_Mutation_p.P331L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	331					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGTGACGCGCCCTCTGTGGGT	0.697000														26			13		0	0	1	0	0
SLPI	6590	broad.mit.edu	37	20	43881651	43881651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43881651G>A	uc002xnm.1	-	2	408	c.386C>T	c.(385-387)cCt>cTt	p.P129L		NM_003064	NP_003055	P03973	SLPI_HUMAN	Homo sapiens secretory leukocyte peptidase inhibitor (SLPI), mRNA.	129	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				ACCTTTCACAGGGGAAACGCA	0.567000														88			29		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57553764	57553764	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57553764C>T	uc001snd.3	+	11	2421	c.1955C>T	c.(1954-1956)gCt>gTt	p.A652V		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	652					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACCCCAGGGCTATTGTGGTG	0.562000														41			12		0	0	1	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	521377	521377	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:521377C>T	uc002chf.3	+	2	1230	c.891C>T	c.(889-891)ttC>ttT	p.F297F		NM_014700	NP_055515	O75154	RFIP3_HUMAN	Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA.	297					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				TCGATGACTTCGTCACCTATG	0.602000														9			6		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51379771	51379771	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:51379771G>A	uc001wyu.3	-	12	1723	c.1596C>T	c.(1594-1596)ctC>ctT	p.L532L	PYGL_uc010tqq.2_Silent_p.L498L	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	532					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	p.L532F(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CGAGTTCCCGGAGGAAGACAT	0.478000														43			19		0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43576027	43576027	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43576027C>T	uc002ovr.3	-	3	961	c.789G>A	c.(787-789)gcG>gcA	p.A263A	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	263	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.A263A(2)|p.A263V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGTTAGAGTTCGCGAAGCAAG	0.443000														256			116		0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66811188	66811188	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66811188G>A	uc009yrl.3	+	4	931	c.701G>A	c.(700-702)aGc>aAc	p.S234N	SYT12_uc001oju.3_Missense_Mutation_p.S234N	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	234	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GAGGAGAAGAGCCTGCGGTTT	0.557000														70			36		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140207969	140207969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140207969G>A	uc003lho.2	+	0	320	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.R98Q|PCDHAC2_uc011dab.2_Missense_Mutation_p.R98Q	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	113	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R98Q(2)		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)			CTGTGCGGGCGGAGCGCGGAG	0.587000														303			93		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78032751	78032751	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:78032751C>T	uc010dht.3	+	8	1443	c.1412C>T	c.(1411-1413)aCc>aTc	p.T471I	CCDC40_uc010wub.2_Intron|CCDC40_uc021uem.1_Missense_Mutation_p.T471I|CCDC40_uc002jxm.4_Missense_Mutation_p.T254I	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	471					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTGAGGACACCCGGATTTTA	0.567000														68			28		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275274	71275274	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71275274C>T	uc003hfi.3	+	2	403	c.229C>T	c.(229-231)Cga>Tga	p.R77*		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	77	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTCTTTCTCTCGATTTAGCCA	0.458000														204			76		0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67941580	67941580	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:67941580C>T	uc004dxb.3	+	9	2665	c.2451C>T	c.(2449-2451)ccC>ccT	p.P817P	STARD8_uc004dxa.3_Silent_p.P737P|STARD8_uc004dxc.4_Silent_p.P737P	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	737	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						AGGATAGCCCCTCTCCCAGGT	0.577000														16			17		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10973801	10973801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:10973801C>T	uc003jfa.1	-	21	3587	c.3442G>A	c.(3442-3444)Gag>Aag	p.E1148K	CTNND2_uc010itt.2_Missense_Mutation_p.E1057K|CTNND2_uc011cmy.1_Missense_Mutation_p.E811K|CTNND2_uc011cmz.1_Missense_Mutation_p.E715K|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.E740K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1148					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTGCTGGGCTCCTGTGGGACT	0.537000														49			22		0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331609	85331609	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:85331609G>A	uc001dkl.2	-	0	234	c.195C>T	c.(193-195)ttC>ttT	p.F65F	LPAR3_uc009wcj.1_Silent_p.F65F	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	65					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						ACAGGTAGTAGAAGGGGAAAT	0.393000														129			26		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74976528	74976528	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:74976528G>A	uc001xqa.3	-	20	3573	c.3186C>T	c.(3184-3186)ccC>ccT	p.P1062P		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1062	Cys-rich.|EGF-like 9; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGAGGCCTGTGGGGCATGAGG	0.592000														145			12		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41010033	41010033	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41010033G>A	uc002ony.3	+	11	1745	c.1659G>A	c.(1657-1659)gaG>gaA	p.E553E	SPTBN4_uc002onx.3_Silent_p.E553E|SPTBN4_uc002onz.3_Silent_p.E553E	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	553					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGATGGAGGAGATGCAGGTGC	0.622000														39			7		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117221501	117221501	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:117221501G>A	uc001lcg.3	+	21	3759	c.3373G>A	c.(3373-3375)Gat>Aat	p.D1125N	ATRNL1_uc010qsm.2_Missense_Mutation_p.D254N|ATRNL1_uc010qsn.2_Intron	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1125						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACAGGAAGATGATCGCCACCA	0.323000														72			11		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14772190	14772190	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:14772190C>T	uc001rcd.3	-	23	2967	c.2830G>A	c.(2830-2832)Gga>Aga	p.G944R		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	944	Guanylate cyclase.				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						ACCGTATCTCCAAATAGACAA	0.478000														69			27		0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	371314	371314	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:371314G>A	uc002lol.3	-	5	687	c.644C>T	c.(643-645)cCt>cTt	p.P215L	THEG_uc002lom.3_Missense_Mutation_p.P191L	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	215					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.P215P(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGGCCAGACAGGAGTCGTCCT	0.597000														138			69		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50976922	50976922	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:50976922G>A	uc002lfe.2	+	22	3898	c.3282G>A	c.(3280-3282)aaG>aaA	p.K1094K	DCC_uc010dpf.2_Silent_p.K729K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1094					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCCTCAGAAGAACAGCAACC	0.532000														56			28		0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	40068723	40068723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40068723C>T	uc001zki.3	-	1	221	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	1										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTATAATATCCATTGAAATCC	0.338000														78			30		0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110051073	110051073	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110051073G>A	uc021org.1	-	0	462	c.462C>T	c.(460-462)ttC>ttT	p.F154F	AMIGO1_uc001dxx.4_Silent_p.F154F	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	154					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CCATGTCATCGAAGGCGCACC	0.537000														109			36		0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178936259	178936259	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:178936259G>A	uc002ulq.3	-	0	1224	c.906C>T	c.(904-906)gcC>gcT	p.A302A	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	302	GAF 1.				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)			CTACCTGGTAGGCATCAGGAA	0.512000									Primary Pigmented Nodular Adrenocortical Disease, Familial					141			10		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453654	84453654	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:84453654G>A	uc001vlk.3	-	0	2875	c.1989C>T	c.(1987-1989)tcC>tcT	p.S663S		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	663						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CTGTCTGTAGGGAATTAATCT	0.557000														34			5		0	0	1	0	0
CXCR5	643	broad.mit.edu	37	11	118764380	118764380	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118764380G>A	uc001pue.4	+	1	303	c.127G>A	c.(127-129)Ggg>Agg	p.G43R	CXCR5_uc001puf.3_5'UTR	NM_001716	NP_116743	P32302	CXCR5_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 5 (CXCR5), transcript variant 1, mRNA.	43					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TGCCACAGAGGGGCCCCTCAT	0.597000														102			30		0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225702509	225702509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:225702509G>A	uc001hpc.1	-	6	1460	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	ENAH_uc021pju.1_Missense_Mutation_p.P286L|ENAH_uc001hpd.1_Missense_Mutation_p.P336L|ENAH_uc001hpb.1_5'UTR	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	336	Pro-rich.				T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		aggtggagggggccctggggg	0.672000														14			7		0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118351283	118351283	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:118351283G>A	uc001lco.1	+	3	68	c.50_splice	c.e3-1	p.G17_splice	PNLIPRP1_uc001lcp.2_Splice_Site_p.G17_splice|PNLIPRP1_uc001lcn.3_Splice_Site_p.G17_splice|PNLIPRP1_uc009xys.1_Splice_Site	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	17					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TTCTCTGTAGGAAAAGAAGTT	0.537000														109			41		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565267	58565267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58565267G>A	uc002qrc.1	+	5	1322	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	359					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGCCCCCGGGAGTCCGTCCC	0.657000														33			17		0	0	1	0	0
CST5	1473	broad.mit.edu	37	20	23860381	23860381	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:23860381G>A	uc002wtr.1	-	1	1	c.-66_splice	c.e1-1			NM_001900	NP_001891	P28325	CYTD_HUMAN	Homo sapiens cystatin D (CST5), mRNA.							extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						GCTGAGGCAGGAAGCCCAGGC	0.602000														15			4		0	0	1	0	0
MSRB3	253827	broad.mit.edu	37	12	65847522	65847522	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:65847522C>T	uc001ssn.3	+	4	454	c.328C>T	c.(328-330)Cac>Tac	p.H110Y	MSRB3_uc009zqp.3_Missense_Mutation_p.H103Y|MSRB3_uc001ssm.3_Missense_Mutation_p.H103Y|MSRB3_uc021qzy.1_Missense_Mutation_p.H103Y	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript variant 1, mRNA.	110					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GCCTTCATTCCACGATGTGAT	0.448000														58			27		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124345682	124345682	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124345682G>A	uc001uft.4	+	37	6544	c.6519G>A	c.(6517-6519)agG>agA	p.R2173R		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2173	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACATCTTCAGGGAAATCAACA	0.453000														20			12		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48772186	48772186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:48772186G>A	uc003xqi.3	-	46	6247	c.6190C>T	c.(6190-6192)Cgt>Tgt	p.R2064C	PRKDC_uc003xqj.3_Missense_Mutation_p.R2064C	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2065					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTCCGAAAACGACCAGTGGCA	0.458000								Non-homologous end-joining						166			54		0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124489364	124489364	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124489364G>A	uc001qah.3	+	3	712	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	Homo sapiens pannexin 3 (PANX3), mRNA.	238					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	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;0.0219)		CTTCTTCCAGGAAGAATTCAG	0.498000														36			15		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103149037	103149037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103149037G>A	uc002tbz.4	+	11	2744	c.2287G>A	c.(2287-2289)Gag>Aag	p.E763K		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	763					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						GTCTGGAGGGGAGAGTGAGGG	0.552000														31			11		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55377319	55377319	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55377319C>T	uc002qhl.4	+	6	1123	c.1060C>T	c.(1060-1062)Ctc>Ttc	p.L354F	KIR3DL2_uc002qho.4_Missense_Mutation_p.L354F|KIR3DL2_uc010esh.3_Missense_Mutation_p.L337F			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	354					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		cctcttcatcctcctcctctt	0.493000														58			24		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53908220	53908220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:53908220C>T	uc002acj.2	-	14	2225	c.2183G>A	c.(2182-2184)aGa>aAa	p.R728K	WDR72_uc010bfi.1_Missense_Mutation_p.R728K	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	728								p.L727M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTTACTTTTTCTCAGTGTCAG	0.468000														80			26		0	0	1	0	0
MESP1	55897	broad.mit.edu	37	15	90293986	90293986	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90293986G>A	uc002bol.3	-	0	555	c.477C>T	c.(475-477)tcC>tcT	p.S159S		NM_018670	NP_061140	Q9BRJ9	MESP1_HUMAN	Homo sapiens mesoderm posterior 1 homolog (mouse) (MESP1), mRNA.	159					Notch signaling pathway|cardiac atrium formation|cardiac cell fate determination|cardiac vascular smooth muscle cell differentiation|cardiac ventricle formation|cardioblast anterior-lateral migration|cardioblast migration to the midline involved in heart field formation|endothelial cell differentiation|gastrulation|growth involved in heart morphogenesis|heart looping|lateral mesoderm development|negative regulation of endodermal cell fate specification|negative regulation of mesodermal cell fate specification|negative regulation of transcription, DNA-dependent|neurogenesis|positive regulation of Notch signaling pathway|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|positive regulation of hepatocyte differentiation|positive regulation of striated muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|secondary heart field specification|sinoatrial node cell differentiation|sinus venosus morphogenesis		sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|kidney(1)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			AGCCCCGAGGGGACCCCGCGT	0.736000														12			4		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124360020	124360020	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124360020C>T	uc001uft.4	+	45	7852	c.7827C>T	c.(7825-7827)atC>atT	p.I2609I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2609	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATTCCTCCATCCTGAAAGGCC	0.438000														84			28		0	0	1	0	0
TCRAV5.1a	0	broad.mit.edu	37	14	22237033	22237033	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22237033G>A	uc001wbt.1	+	2	117	c.110_splice	c.e2-1	p.W37_splice	TRA_uc021rpa.1_Intron|TCRAV5.1a_uc021rpd.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 6, partial cds, clone: un 84-2.																		TTCTGCCTAGGGGTGAAGAGC	0.473000														16			6		0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27684701	27684701	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27684701G>A	uc001bny.1	-	20	3135	c.2886C>T	c.(2884-2886)tgC>tgT	p.C962C	MAP3K6_uc009vsw.1_Silent_p.C954C|MAP3K6_uc001bnz.1_Silent_p.C485C	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	962					activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CATAACTGAGGCAGCGCTTCG	0.607000											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			21		0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17838113	17838113	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17838113C>T	uc002nhe.1	+	4	1929	c.1920C>T	c.(1918-1920)tcC>tcT	p.S640S	MAP1S_uc010eaz.2_Silent_p.S253S|MAP1S_uc010xpv.1_Silent_p.S614S	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	640	Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	DNA binding|actin filament binding|beta-tubulin binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCACACCCTCCCCTGAGTCCC	0.726000														8			5		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46746655	46746655	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:46746655G>A	uc002eei.4	-	9	2135	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	MYLK3_uc010vge.2_Silent_p.F332F	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	673	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.F673F(1)|p.F752F(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CAGGAGTGCCGAAGTTCACCT	0.547000														45			15		0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034458	58034458	+	Silent	SNP	G	A	A	rs146836599		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:58034458G>A	uc001nmq.1	-	0	1275	c.873C>T	c.(871-873)gcC>gcT	p.A291A		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CTCTCCCTACGGCCCCTTTCA	0.517000														82			34		0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43893738	43893738	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43893738G>A	uc001zsf.3	-	23	4635	c.4557C>T	c.(4555-4557)ccC>ccT	p.P1519P	STRC_uc010bdl.3_Silent_p.P746P|STRC_uc001zse.3_Silent_p.P37P	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1519					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ATCCCCGGGGGGGACCCCACA	0.527000														60			21		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1459935	1459935	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1459935G>A	uc002qwr.3	+	6	786	c.700G>A	c.(700-702)Gga>Aga	p.G234R	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.G234R|TPO_uc002qwx.3_Missense_Mutation_p.G234R|TPO_uc002qwu.3_Missense_Mutation_p.G234R|TPO_uc010yio.2_Missense_Mutation_p.G234R|TPO_uc010yip.2_Missense_Mutation_p.G234R	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	234					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GATGGCATGGGGACAATACAT	0.522000														28			11		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62026817	62026817	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62026817C>T	uc002jds.1	-	14	3002	c.2925G>A	c.(2923-2925)gaG>gaA	p.E975E		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	975					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCTCAGGGTCCTCCTCGGGGG	0.642000														9			8		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509082	71509082	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71509082G>A	uc011caw.1	+	8	2220	c.1939G>A	c.(1939-1941)Gag>Aag	p.E647K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	647					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGACCAGAAGGAGATAGTCCC	0.443000														119			49		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592720	38592720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38592720C>T	uc021wvo.1	-	26	5195	c.5143G>A	c.(5143-5145)Ggc>Agc	p.G1715S	SCN5A_uc021wvk.1_Missense_Mutation_p.G1682S|SCN5A_uc021wvl.1_Missense_Mutation_p.G1661S|SCN5A_uc021wvm.1_Missense_Mutation_p.G1697S|SCN5A_uc021wvn.1_Missense_Mutation_p.G1714S|SCN5A_uc021wvp.1_Missense_Mutation_p.G1715S|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.G1527S|SCN5A_uc021wvi.1_Missense_Mutation_p.G1581S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1715					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTGAGGAGGCCATCCCAGCCG	0.642000														108			38		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6933226	6933226	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6933226C>T	uc001qqw.1	+	1	697	c.162C>T	c.(160-162)ttC>ttT	p.F54F	GPR162_uc010sfn.1_Silent_p.F54F|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	Homo sapiens G protein-coupled receptor 162 (GPR162), transcript variant A-2, mRNA.	54						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						TGCTCTGCTTCCTAGCGGGCA	0.612000														38			6		0	0	1	0	0
GSX2	170825	broad.mit.edu	37	4	54966673	54966673	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:54966673G>A	uc010igp.1	+	0	426	c.162G>A	c.(160-162)aaG>aaA	p.K54K	PDGFRA_uc003haa.3_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	Homo sapiens GS homeobox 2 (GSX2), mRNA.	54						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CGTCCCGCAAGAGCGGCGCGT	0.716000														20			12		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31154973	31154973	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:31154973G>A	uc002rns.3	-	10	1674	c.1034C>T	c.(1033-1035)cCc>cTc	p.P345L	GALNT14_uc002rnq.3_Missense_Mutation_p.P320L|GALNT14_uc010ymr.2_Missense_Mutation_p.P305L|GALNT14_uc002rnr.3_Missense_Mutation_p.P340L|GALNT14_uc010ezo.2_Missense_Mutation_p.P307L|GALNT14_uc010ezp.1_3'UTR	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	340						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GAAAACGTAGGGGTGCTTCTT	0.602000														71			31		0	0	1	0	0
CASQ2	845	broad.mit.edu	37	1	116311118	116311118	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:116311118G>A	uc001efx.4	-	0	309	c.45C>T	c.(43-45)tcC>tcT	p.S15S	CASQ2_uc010owu.2_Silent_p.S15S	NM_001232	NP_001223	O14958	CASQ2_HUMAN	Homo sapiens calsequestrin 2 (cardiac muscle) (CASQ2), nuclear gene encoding mitochondrial protein, mRNA.	15					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCCTGCAAGAGGACAGAAAAT	0.418000														37			18		0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118516191	118516191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118516191C>T	uc001ptr.2	+	16	3592	c.3239C>T	c.(3238-3240)cCc>cTc	p.P1080L	PHLDB1_uc001pts.3_Missense_Mutation_p.P1080L|PHLDB1_uc001ptt.3_Missense_Mutation_p.P1033L|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Missense_Mutation_p.P895L|PHLDB1_uc001ptw.2_Missense_Mutation_p.P435L|PHLDB1_uc009zai.2_Missense_Mutation_p.P116L|PHLDB1_uc001ptx.2_Missense_Mutation_p.P116L|PHLDB1_uc010ryi.1_Missense_Mutation_p.P223L	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	1080										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCAGCGGGCCCCTCGGGCTTC	0.672000														98			25		0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118866123	118866123	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:118866123T>C	uc003ecb.1	+	0	1127	c.1087T>C	c.(1087-1089)Tat>Cat	p.Y363H	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.Y363H	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	363										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GCTGTCTTACTATGAAACACG	0.448000														46			16		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119934769	119934770	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:119934769_119934770GG>AA	uc001ehr.1	+	5	940_941	c.808_809GG>AA	c.(808-810)ggg>AAg	p.G270K	HAO2_uc001ehq.1_Missense_Mutation_p.G270K	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	270	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TGCTGTAAAGGGGAAAATTGAA	0.490000														64			15		0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77134191	77134191	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:77134191G>A	uc002bby.3	-	3	336	c.277C>T	c.(277-279)Cct>Tct	p.P93S	SCAPER_uc002bbx.3_5'UTR|SCAPER_uc002bbz.1_5'UTR|SCAPER_uc002bca.1_5'UTR|SCAPER_uc002bcb.1_Missense_Mutation_p.P93S|SCAPER_uc002bcc.1_Missense_Mutation_p.P93S	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	92						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATTTTCCGAGGGTGCCTTGTT	0.388000														132			10		0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155253804	155253804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155253804C>T	uc001fjz.1	+	2	756	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	HCN3_uc010pfz.1_5'UTR	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	250						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGCTGTGGTTCGCATCTTCAA	0.572000														88			31		0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15262433	15262433	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:15262433C>T	uc001rcs.3	-	3	351	c.211G>A	c.(211-213)Gag>Aag	p.E71K	RERG_uc001rct.3_Missense_Mutation_p.E71K|RERG_uc010shu.2_Missense_Mutation_p.E52K	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	71					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding	p.E71D(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						ATGTGCCCCTCCCTCTGAATG	0.463000														371			84		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88476372	88476372	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:88476372C>T	uc002bme.2	-	15	2066	c.1760G>A	c.(1759-1761)aGg>aAg	p.R587K	NTRK3_uc002bmh.2_Missense_Mutation_p.R579K|NTRK3_uc002bmf.2_Missense_Mutation_p.R587K|NTRK3_uc021sua.1_Missense_Mutation_p.R579K|NTRK3_uc010upl.1_Missense_Mutation_p.R489K|NTRK3_uc010bnh.1_Missense_Mutation_p.R579K	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	587	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTCGGCCTCCCTCTGGAAATC	0.552000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				90			6		0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110295781	110295781	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110295781G>A	uc001dyr.2	-	12	1383	c.1158C>T	c.(1156-1158)ccC>ccT	p.P386P	EPS8L3_uc001dys.2_Silent_p.P386P|EPS8L3_uc001dyq.2_Silent_p.P387P|EPS8L3_uc009wfm.2_Silent_p.P353P|EPS8L3_uc009wfn.2_Silent_p.P361P|EPS8L3_uc009wfo.2_Silent_p.P333P	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	386						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTGAGAATGTGGGTTGGTAGG	0.572000														87			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179567368	179567368	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179567368C>T	uc021vsy.1	-	103	26739	c.26514G>A	c.(26512-26514)aaG>aaA	p.K8838K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K5499K|TTN_uc010fre.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9765	Ig-like 71.						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)			TCTGTATGCGCTTTGTAAACT	0.393000														51			16		0	0	1	0	0
ADRA2A	150	broad.mit.edu	37	10	112838991	112838991	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:112838991G>A	uc001kzo.3	+	0	2202	c.1237G>A	c.(1237-1239)Gcc>Acc	p.A413T		NM_000681	NP_000672	P08913	ADA2A_HUMAN	Homo sapiens adrenergic, alpha-2A-, receptor (ADRA2A), mRNA.	398					Rho protein signal transduction|actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CACGCTCACGGCCGTCGGGTG	0.582000														108			40		0	0	1	0	0
DKFZp666K117	0	broad.mit.edu	37	13	32526950	32526950	+	RNA	SNP	C	T	T	rs151166105	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:32526950C>T	uc001utu.2	+	3		c.708C>T			DKFZp666K117_uc010tdv.2_Intron|DKFZp666K117_uc001utv.3_Non-coding_Transcript					Homo sapiens eukaryotic translation elongation factor 1 delta pseudogene 3 (EEF1DP3), non-coding RNA.																		ACAGCGAGCTCGTCGTCCGGA	0.637000														20			8		0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27744833	27744833	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27744833G>A	uc001bof.2	-	3	581	c.356C>T	c.(355-357)cCt>cTt	p.P119L	WASF2_uc010ofl.2_Missense_Mutation_p.P119L	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	Homo sapiens WAS protein family, member 2 (WASF2), transcript variant 1, mRNA.	119					G-protein signaling, coupled to cAMP nucleotide second messenger|actin cytoskeleton organization	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TTCTAAGACAGGCACTGGGAG	0.458000														91			33		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42298192	42298192	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42298192G>A	uc021sjp.1	-	3	521	c.521C>T	c.(520-522)cCg>cTg	p.P174L		NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	156					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		ACCCACCTGCGGGTTGAGTGG	0.522000														47			11		0	0	1	0	0
PANX2	56666	broad.mit.edu	37	22	50615914	50615914	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50615914C>T	uc003bjn.4	+	1	773	c.773C>T	c.(772-774)aCc>aTc	p.T258I	PANX2_uc003bjp.4_Missense_Mutation_p.T124I|PANX2_uc003bjo.4_Missense_Mutation_p.T258I	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	258					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		AACGAGTTCACCTGCGCGCTG	0.692000														9			4		0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49167284	49167284	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49167284G>A	uc003cwe.3	-	9	1692	c.1393C>T	c.(1393-1395)Ctg>Ttg	p.L465L	LAMB2_uc003cwf.1_Silent_p.L465L	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	465	Laminin EGF-like 3.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGGCAGCCCAGACGGTCACTG	0.572000														119			30		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30350440	30350440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:30350440C>T	uc002kxm.1	-	1	503	c.115G>A	c.(115-117)Gcc>Acc	p.A39T		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	39	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGGCCCTGGGCCGTCAGGGTC	0.652000														60			8		0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	721583	721583	+	Silent	SNP	C	T	T	rs144181589		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:721583C>T	uc001lqt.3	+	9	1034	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	EPS8L2_uc010qwj.1_Silent_p.L279L|EPS8L2_uc001lqu.3_Silent_p.L263L|EPS8L2_uc010qwk.2_Silent_p.L279L|EPS8L2_uc001lqv.3_Silent_p.L218L|EPS8L2_uc001lqw.3_5'UTR|EPS8L2_uc001lqx.3_5'Flank|EPS8L2_uc001lqy.3_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	263						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAACTGCGCCCTGGACGACAT	0.627000														20			13		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196716443	196716443	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:196716443G>A	uc001gtj.4	+	21	3936	c.3696G>A	c.(3694-3696)taG>taA	p.*1232*	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAAAAAGATAGAATCAATCAT	0.338000														56			20		0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380251	56380251	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56380251G>A	uc001nja.1	-	0	728	c.728C>T	c.(727-729)tCc>tTc	p.S243F	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G242C(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TGTCAGGTGGGAAGCACACGT	0.448000														99			43		0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130492962	130492962	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130492962G>A	uc004brq.1	+	13	1967	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	TTC16_uc011mai.1_Missense_Mutation_p.E621K|TTC16_uc004brr.1_Silent_p.R454R|TTC16_uc010mxn.1_Missense_Mutation_p.E230K	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	634							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TATCTGCCAGGAATACAGGAG	0.587000														37			7		0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66254783	66254783	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66254783C>T	uc001oig.1	+	4	605	c.543C>T	c.(541-543)gcC>gcT	p.A181A	DPP3_uc001oif.1_Silent_p.A181A|DPP3_uc010rpe.1_Silent_p.A170A	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	181					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TGGAAGATGCCAAATTGGCCC	0.542000														62			20		0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042757	75042757	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:75042757C>T	uc002ayr.1	+	1	742	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	226					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	p.F226F(4)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CTCATGAGTTCGTGGAGACTG	0.572000														252			38		0	0	1	0	0
SHBG	6462	broad.mit.edu	37	17	7534655	7534655	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7534655C>T	uc002gie.2	+	3	569	c.531C>T	c.(529-531)ttC>ttT	p.F177F	SHBG_uc010cmu.2_Silent_p.F119F|SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Silent_p.F119F|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Silent_p.F119F|SHBG_uc010cmz.2_Silent_p.F119F|SHBG_uc010cmv.2_Intron|SHBG_uc010cmw.2_Intron|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Silent_p.F119F|SHBG_uc002gid.3_Silent_p.F119F|SHBG_uc010cnd.2_Intron|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Silent_p.F177F|SHBG_uc010vuf.1_Silent_p.F177F|SHBG_uc010cnb.2_Silent_p.F177F|SHBG_uc010cnc.2_Intron	NM_001040	NP_001031	P04278	SHBG_HUMAN	Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA.	177	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GGCTGCTCTTCCCCGCTTCCA	0.612000														15			8		0	0	1	0	0
MDFI	4188	broad.mit.edu	37	6	41617481	41617481	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:41617481G>A	uc003oqq.4	+	3	591	c.384G>A	c.(382-384)cgG>cgA	p.R128R	MDFI_uc010jxn.3_Silent_p.R128R	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	128					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			AGGCCCACCGGAAGTTGCAGA	0.647000														141			68		0	0	1	0	0
TXNDC15	79770	broad.mit.edu	37	5	134229308	134229308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:134229308C>T	uc003lac.1	+	2	1376	c.718C>T	c.(718-720)Ctt>Ttt	p.L240F	TXNDC15_uc010jdy.1_Non-coding_Transcript	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	Homo sapiens thioredoxin domain containing 15 (TXNDC15), mRNA.	240	Thioredoxin.				cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTTCCAGCTCTTCACTTTTT	0.522000														141			48		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20432301	20432301	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:20432301G>A	uc001iqg.1	+	4	1256	c.619G>A	c.(619-621)Gat>Aat	p.D207N	PLXDC2_uc001iqh.1_Missense_Mutation_p.D158N|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	207						integral to membrane		p.F206F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GGCAAATTTCGATCCCAGTGT	0.353000														104			46		0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636695	73636695	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:73636695C>T	uc001vje.3	+	1	1282	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	KLF5_uc001vjd.3_Nonsense_Mutation_p.Q229*	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Homo sapiens Kruppel-like factor 5 (intestinal) (KLF5), mRNA.	320					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AGAGATGCTCCAGAATTTAAC	0.473000														140			36		0	0	1	0	0
DMRT2	10655	broad.mit.edu	37	9	1057157	1057157	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:1057157G>A	uc003zha.3	+	3	1770	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	DMRT2_uc003zhb.4_3'UTR|DMRT2_uc003zgy.4_Missense_Mutation_p.D368N|DMRT2_uc011llt.2_3'UTR|DMRT2_uc022bcw.1_3'UTR|DMRT2_uc011llv.2_Missense_Mutation_p.D524N	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA.	524					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		ATGTGCAAAAGACCTTTTTGT	0.393000														91			11		0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48699373	48699373	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:48699373G>A	uc001crn.2	+	9	1207	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G	SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Silent_p.G360G|SLC5A9_uc010omt.1_Silent_p.G374G|SLC5A9_uc001crp.2_Silent_p.G27G|SLC5A9_uc010omu.1_Silent_p.G27G	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	360						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GAATCTGTGGGGCCCGAGTGG	0.562000														31			6		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124392769	124392769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124392769C>T	uc001lgk.1	+	48	6179	c.6073C>T	c.(6073-6075)Ccc>Tcc	p.P2025S	DMBT1_uc001lgl.1_Missense_Mutation_p.P2015S|DMBT1_uc001lgm.1_Missense_Mutation_p.P1397S|DMBT1_uc021qaf.1_Missense_Mutation_p.P2025S|DMBT1_uc021qag.1_Missense_Mutation_p.P2015S|DMBT1_uc021qah.1_Missense_Mutation_p.P1397S|DMBT1_uc009xzz.1_Missense_Mutation_p.P2024S|DMBT1_uc010qtx.1_Missense_Mutation_p.P745S|DMBT1_uc009yab.1_Missense_Mutation_p.P728S|DMBT1_uc009yac.1_Missense_Mutation_p.P319S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2025	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCCATTCTATCCCGGGAACTA	0.507000														93			32		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183710474	183710474	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:183710474G>A	uc003ivd.1	+	23	5608	c.5533G>A	c.(5533-5535)Gga>Aga	p.G1845R		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1845					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGATTATGACGGACAGGGGAG	0.478000														22			10		0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241808421	241808421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241808421G>A	uc002waa.4	+	0	260	c.139G>A	c.(139-141)Ggg>Agg	p.G47R	AGXT_uc010zoi.1_Missense_Mutation_p.G47R	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	47					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GCAGATGATCGGGTCCATGAG	0.642000														73			36		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182558	140182558	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140182558G>A	uc003lhf.2	+	0	1776	c.1776G>A	c.(1774-1776)gcG>gcA	p.A592A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.A592A	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	605					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)			ACGTGGTAGCGAAGGTGCGCG	0.687000														93			30		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6166483	6166483	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6166483G>A	uc001amb.2	-	39	5940	c.5829C>T	c.(5827-5829)aaC>aaT	p.N1943N	CHD5_uc001alz.2_Intron|CHD5_uc001ama.2_Intron	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1943					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGGCATCTGGTTGTAGTTGA	0.672000														7			5		0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52699504	52699504	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52699504G>A	uc010snq.2	+	6	1091	c.958G>A	c.(958-960)Gag>Aag	p.E320K	KRT86_uc009zmg.3_Missense_Mutation_p.E320K|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.E320K	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	320	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCGCACCAAGGAGGAGATCAA	0.597000														87			8		0	0	1	0	0
CD8A	925	broad.mit.edu	37	2	87013055	87013055	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:87013055C>T	uc002srt.3	-	5	1585	c.696G>A	c.(694-696)gcG>gcA	p.A232A	RMND5A_uc002srs.4_Intron|CD8A_uc002srv.3_Silent_p.A232A|CD8A_uc010ytn.2_Silent_p.A273A|CD8A_uc002sru.3_Silent_p.A195A	NM_001768	NP_001759	P01732	CD8A_HUMAN	Homo sapiens CD8a molecule (CD8A), transcript variant 1, mRNA.	232					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						AGACGTATCTCGCCGAAAGGC	0.507000														168			60		0	0	1	0	0
WDR77	79084	broad.mit.edu	37	1	111983920	111983920	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111983920G>A	uc001ebb.3	-	9	1000	c.961C>T	c.(961-963)Cag>Tag	p.Q321*	WDR77_uc010owe.2_Nonsense_Mutation_p.Q257*|WDR77_uc021orq.1_Intron	NM_024102	NP_077007	Q9BQA1	MEP50_HUMAN	Homo sapiens WD repeat domain 77 (WDR77), mRNA.	321				LTTVGWDHQVVHHVVPTEPLPAPGPASVTE -> DLQVLLS RLDLRQKASPP (in Ref. 7; AAH09411).	ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGGACGACCTGATGGTCCCAG	0.527000														81			39		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74003537	74003537	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74003537C>T	uc010wss.1	-	21	6043	c.5815G>A	c.(5815-5817)Gtg>Atg	p.V1939M	EVPL_uc002jqi.2_Missense_Mutation_p.V1917M|EVPL_uc010wst.1_Missense_Mutation_p.V1387M	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1917	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCCTCGCCCACCGAGAGCCTC	0.662000														61			9		0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131191022	131191022	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:131191022C>T	uc003vqw.4	-	6	1566	c.1308G>A	c.(1306-1308)aaG>aaA	p.K436K	PODXL_uc003vqx.4_Silent_p.K404K	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	436					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CGCTTACCTCCTTTAGTTCAT	0.607000														116			50		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431856	140431856	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140431856G>A	uc003lik.1	+	0	878	c.801G>A	c.(799-801)gtG>gtA	p.V267V		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	267	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACTGCCGTGGACCTAGACG	0.517000														38			9		0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688681	55688681	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55688681G>A	uc010sph.2	-	0	336	c.336C>T	c.(334-336)ctC>ctT	p.L112L		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L112F(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGGCAGCCAGGAGGTAAAACT	0.393000														57			31		0	0	1	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129853969	129853969	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:129853969C>T	uc004bqr.1	-	3	1762	c.1262G>A	c.(1261-1263)aGa>aAa	p.R421K	RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Missense_Mutation_p.R119K	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.	421	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						ATCATGATCTCTGTCCAGGGT	0.552000														239			75		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802752	27802752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27802752G>A	uc002rkz.4	+	0	3364	c.3313G>A	c.(3313-3315)Gat>Aat	p.D1105N		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1105								p.P1104P(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AATACCCCCCGATGTGCCTCC	0.453000														103			24		0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48190922	48190922	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48190922G>A	uc010slo.2	-	6	776	c.581C>T	c.(580-582)tCt>tTt	p.S194F	HDAC7_uc001rqj.4_Missense_Mutation_p.S194F|HDAC7_uc001rqk.4_Missense_Mutation_p.S177F|HDAC7_uc009zkv.1_Missense_Mutation_p.S155F	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	155	Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding	p.S155F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GTTGGGCTCAGAGACTGCAGG	0.592000														87			40		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129278591	129278591	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:129278591C>T	uc003emx.2	-	31	5269	c.5169G>A	c.(5167-5169)aaG>aaA	p.K1723K	PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Silent_p.K391K	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1723					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TCAGAATGGCCTTGAACAGGT	0.612000														127			28		0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26672638	26672638	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26672638C>T	uc001bmd.4	-	1	661	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 4.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		ACTCGGTATTCCTCGAGGCTC	0.627000														16			3		0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33390817	33390817	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:33390817G>A	uc002nty.3	-	15	1910	c.1821C>T	c.(1819-1821)aaC>aaT	p.N607N	CEP89_uc002ntx.3_Silent_p.N360N|CEP89_uc010edg.3_Non-coding_Transcript	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.	607						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GGCCAACAAGGTTTGCCAGGT	0.428000														100			36		0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021916	5021916	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:5021916G>A	uc001qnh.3	+	1	2477	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	KCNA1_uc021qts.1_Missense_Mutation_p.E458K	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	458					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATGGAGATCGAAGAGGATAT	0.463000														139			68		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26725472	26725472	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:26725472C>T	uc001mra.2	-	4	861	c.548G>A	c.(547-549)tGg>tAg	p.W183*	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Nonsense_Mutation_p.W183*	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	183					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGCATCTGTCCACACCACTGC	0.433000														141			43		0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9047337	9047337	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:9047337G>A	uc001mhi.2	-	19	2670	c.2595C>T	c.(2593-2595)acC>acT	p.T865T	SCUBE2_uc021qdk.1_Silent_p.T341T|SCUBE2_uc001mhj.2_Silent_p.T701T	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	893	CUB.					extracellular region	calcium ion binding	p.Y865C(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TTGACCTGGAGGTGAAGGCGA	0.512000														135			48		0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9756994	9756994	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:9756994C>T	uc021wst.1	+	11	885	c.714C>T	c.(712-714)ttC>ttT	p.F238F	CPNE9_uc003bsd.3_Silent_p.F237F	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	238	C2 2.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TTGGTGAGTTCACCACCAGCT	0.567000														71			14		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97045391	97045391	+	Nonsense_Mutation	SNP	G	A	A	rs78760556		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:97045391G>A	uc021rcc.1	+	2	251	c.173G>A	c.(172-174)tGg>tAg	p.W58*				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	58										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GGTGGCTATTGGACTCTGCTT	0.383000														73			49		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152737732	152737732	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:152737732G>A	uc021zhb.1	-	38	6063	c.5840C>T	c.(5839-5841)tCc>tTc	p.S1947F	SYNE1_uc003qot.4_Missense_Mutation_p.S1954F|SYNE1_uc003qou.4_Missense_Mutation_p.S1947F|SYNE1_uc010kjb.1_Missense_Mutation_p.S1930F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1947					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCTCTGCAGGAAGTCCTTTG	0.502000										HNSCC(10;0.0054)				67			37		0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13910382	13910382	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:13910382C>T	uc001avd.3	+	0	131	c.82C>T	c.(82-84)Ctc>Ttc	p.L28F	PDPN_uc001avc.3_Missense_Mutation_p.L28F|PDPN_uc009vob.3_5'Flank|PDPN_uc009voc.3_5'Flank|PDPN_uc001ave.3_5'Flank|PDPN_uc001avf.3_5'Flank	NM_006474	NP_001006625	Q86YL7	PDPN_HUMAN	Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.	0					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GGCACCCTCCCTCTCCGGGGC	0.647000														43			22		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118375399	118375399	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118375399C>T	uc001pta.3	+	26	8806	c.8783C>T	c.(8782-8784)cCa>cTa	p.P2928L	MLL_uc001ptb.3_Missense_Mutation_p.P2931L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2928					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTAGAGCTACCATCTGATCTG	0.498000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									129			49		0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113234340	113234340	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:113234340C>T	uc001eck.3	+	5	1160	c.890C>T	c.(889-891)cCt>cTt	p.P297L	MOV10_uc001ecl.2_Missense_Mutation_p.P297L|MOV10_uc001ecn.3_Missense_Mutation_p.P297L|MOV10_uc001ecm.3_Missense_Mutation_p.P237L|MOV10_uc009wgj.1_Missense_Mutation_p.P237L	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	297					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TACTACCCACCTCCCCGCCTC	0.542000														96			33		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52942420	52942420	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52942420G>A	uc002pzk.3	+	3	1813	c.1746G>A	c.(1744-1746)agG>agA	p.R582R	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.R569R	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CGCGACATAGGAATATTCATA	0.443000														17			9		0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839269	15839269	+	Missense_Mutation	SNP	G	A	A	rs142766169	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15839269G>A	uc002nbm.2	+	0	436	c.416G>A	c.(415-417)cGg>cAg	p.R139Q		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R139W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					ATGAGCCCACGGGGCTGCGCC	0.632000														63			25		0	0	1	0	0
ZFP28	140612	broad.mit.edu	37	19	57065579	57065579	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57065579C>T	uc002qnj.3	+	7	1496	c.1425C>T	c.(1423-1425)ccC>ccT	p.P475P	BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GCAAGAAGCCCTATGAGTGCA	0.463000														64			22		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8196452	8196452	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8196452G>A	uc002mjf.3	-	13	1993	c.1976C>T	c.(1975-1977)cCt>cTt	p.P659L		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	659	TB 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTCTTTGGCAGGACAAAGCTG	0.642000														102			12		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170964567	170964567	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:170964567C>T	uc010plz.2	+	12	1386	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	C1orf129_uc001ghg.3_Missense_Mutation_p.S411F|C1orf129_uc009wvy.3_Missense_Mutation_p.S218F	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	411							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCTCTTGGTTCCTACAGGAAA	0.478000														108			41		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842169	5842169	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5842169C>T	uc010qzp.2	+	0	604	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTTATGGTCTGATGGTTGC	0.468000														227			78		0	0	1	0	0
IFNA17	3451	broad.mit.edu	37	9	21227932	21227932	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21227932G>A	uc003zos.1	-	0	290	c.241C>T	c.(241-243)Cat>Tat	p.H81Y	IFNA14_uc003zoo.1_Intron	NM_021268	NP_067091	P01571	IFN17_HUMAN	Homo sapiens interferon, alpha 17 (IFNA17), mRNA.	81					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATCATCTCATGGAGGACAGAG	0.488000														111			51		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41525800	41525800	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:41525800G>A	uc003xok.3	-	38	5463	c.5379C>T	c.(5377-5379)ttC>ttT	p.F1793F	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.F947F|ANK1_uc003xoi.3_Silent_p.F1793F|ANK1_uc003xoj.3_Silent_p.F1793F|ANK1_uc003xol.3_Silent_p.F1631F|ANK1_uc003xom.3_Silent_p.F1834F|ANK1_uc003xof.3_5'Flank|ANK1_uc011lcl.2_5'Flank|ANK1_uc003xod.3_5'Flank|ANK1_uc003xoc.3_5'Flank	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1793	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCACTTGGGTGAAGGTGTTCT	0.652000														49			33		0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143633044	143633044	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143633044C>A	uc011ktv.2	+	0	719	c.719C>A	c.(718-720)aCg>aAg	p.T240K		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GCCTTCCACACGTGTGCCTCT	0.522000														86			21		7.45023e-12	7.47973e-12	1	1	0
GRHL1	29841	broad.mit.edu	37	2	10132199	10132199	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:10132199C>T	uc002raa.3	+	10	1557	c.1386C>T	c.(1384-1386)ccC>ccT	p.P462P	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Silent_p.P273P|GRHL1_uc010yjb.2_Silent_p.P311P	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	462					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TTTTCAAACCCTTCATTGATC	0.448000														28			30		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089883	9089883	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9089883C>T	uc002mkp.3	-	0	2136	c.1932G>A	c.(1930-1932)acG>acA	p.T644T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	644	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						GGACACCGTTCGTGGCCAGAG	0.567000														94			34		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926806	1926806	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1926806C>T	uc002qxe.3	-	9	1562	c.735G>A	c.(733-735)cgG>cgA	p.R245R	MYT1L_uc002qxd.3_Silent_p.R245R|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	245					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R245R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACTCACTTTTCCGACCCAGGT	0.458000														113			42		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907435	12907435	+	Silent	SNP	C	T	T	rs2076062		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12907435C>T	uc010obf.2	-	1	934	c.708G>A	c.(706-708)gtG>gtA	p.V236V	LOC649330_uc009vno.2_Silent_p.V236V	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	236							nucleic acid binding|nucleotide binding										ACTCCATCTTCACATGAGTCT	0.478000														257			15		0	0	1	0	0
CTSL2	1515	broad.mit.edu	37	9	99798917	99798917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:99798917G>A	uc010msi.3	-	4	716	c.509C>T	c.(508-510)tCg>tTg	p.S170L	CTSL2_uc004awt.3_Missense_Mutation_p.S170L|CTSL2_uc004awu.3_Missense_Mutation_p.S115L|CTSL2_uc010msj.2_Missense_Mutation_p.S115L|CTSL2_uc010msk.3_Missense_Mutation_p.S115L	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	170						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				TTGAGGACGCGAACAGTCCAC	0.527000														77			24		0	0	1	0	0
DDX11L10	100287029	broad.mit.edu	37	16	62996	62996	+	RNA	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:62996A>G	uc010bqm.2	+	2		c.558A>G								Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 10 (DDX11L10), non-coding RNA.																		TGTTGGCCTGAATCTGAGCCC	0.567000														5			2		0	0	1	0	0
TTC38	55020	broad.mit.edu	37	22	46669961	46669961	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:46669961C>T	uc003bhi.3	+	3	436	c.360C>T	c.(358-360)gcC>gcT	p.A120A	TTC38_uc011aqx.2_Silent_p.A120A	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	Homo sapiens tetratricopeptide repeat domain 38 (TTC38), mRNA.	120							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						AGACATTTGCCAATGGGTGAG	0.622000														37			18		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424752	125424752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125424752G>A	uc022bmz.1	+	0	758	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CTGTTTTATGGAAGCATTAGC	0.423000														166			55		0	0	1	0	0
BDKRB1	623	broad.mit.edu	37	14	96730546	96730546	+	Missense_Mutation	SNP	G	A	A	rs145002930		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:96730546G>A	uc021sbj.1	+	0	527	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	BDKRB1_uc001yfh.3_Missense_Mutation_p.R176Q	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	176					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TTCCTGCTGCGATCCATCCAA	0.612000														84			36		0	0	1	0	0
EDDM3B	64184	broad.mit.edu	37	14	21238679	21238679	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21238679G>A	uc021ron.1	+	0	370	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	EDDM3B_uc001vyd.3_Missense_Mutation_p.E124K	NM_022360	NP_071755	P56851	EP3B_HUMAN	Homo sapiens epididymal protein 3B (EDDM3B), mRNA.	124					spermatid development	extracellular region				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CAACTACATTGAATTCCATTG	0.413000														93			12		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158607824	158607824	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158607824C>T	uc001fst.1	-	36	5388	c.5189_splice	c.e36+1	p.E1730_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1730					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGCACATACTCTATCCAGGAT	0.403000														111			35		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901282	51901282	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:51901282G>A	uc002iua.2	+	0	1044	c.888G>A	c.(886-888)atG>atA	p.M296I	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	296	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCAAGGGCATGGCCACCTGCT	0.552000														74			26		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65239505	65239505	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:65239505G>A	uc001xht.3	-	24	5397	c.5346C>T	c.(5344-5346)ctC>ctT	p.L1782L	SPTB_uc001xhr.3_Silent_p.L1782L|SPTB_uc001xhs.3_Silent_p.L1782L|SPTB_uc001xhu.3_Silent_p.L1782L|SPTB_uc010aqi.3_Silent_p.L443L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1782					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGAGCTCCAGGAGGTCTGCCC	0.627000														39			26		0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101835746	101835746	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:101835746G>A	uc001kql.2	-	1	602	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	114	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.R113H(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TGAGCTGGACGATGCGCTGGT	0.612000														66			24		0	0	1	0	0
LPAR5	57121	broad.mit.edu	37	12	6729468	6729468	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6729468C>T	uc009zer.2	-	1	1228	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	LPAR5_uc001qps.2_Missense_Mutation_p.R316Q|LPAR5_uc010sff.1_Missense_Mutation_p.R316Q|LPAR5_uc021qub.1_Missense_Mutation_p.R316Q	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN	Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.	316						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						GGTCCTGGCCCGGTGCGGAGT	0.721000														9			4		0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90604284	90604284	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:90604284C>T	uc011eaa.2	+	0	97	c.97C>T	c.(97-99)Cga>Tga	p.R33*		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	33					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTTCATCTTCCGAATGCTGGT	0.507000														58			54		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756137	71756137	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:71756137G>A	uc003kce.1	-	1	1373	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTCGCACTCGGAGCAGTTGTA	0.602000														47			13		0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4909091	4909091	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:4909091C>T	uc002cyb.3	+	4	837	c.498C>T	c.(496-498)acC>acT	p.T166T	UBN1_uc010uxw.2_Silent_p.T166T|UBN1_uc002cyc.3_Silent_p.T166T	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	166	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ACTCGGGAACCCTGCAGTTTA	0.388000														105			13		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7697666	7697666	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7697666C>T	uc002giu.1	+	47	7678	c.7664C>T	c.(7663-7665)aCc>aTc	p.T2555I		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2555	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.M2554I(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCAACATGACCTTCCCCACA	0.602000														27			21		0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102825195	102825195	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102825195C>T	uc001phl.3	-	2	532	c.503G>A	c.(502-504)gGa>gAa	p.G168E		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	168					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		ACCCTTAATTCCAAAAGAGAT	0.303000														36			12		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370509	38370509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38370509G>A	uc003jlc.2	+	5	1003	c.657G>A	c.(655-657)atG>atA	p.M219I	EGFLAM_uc003jlb.2_Missense_Mutation_p.M219I	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	219	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGAGGGCAATGAATTCCCATG	0.562000														43			8		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34064165	34064165	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34064165G>A	uc001zhi.3	+	62	8931	c.8861G>A	c.(8860-8862)cGa>cAa	p.R2954Q	RYR3_uc010bar.3_Missense_Mutation_p.R2954Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2954					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTGGGTTACGAGCATTCTTT	0.443000														20			7		0	0	1	0	0
HOXA5	3202	broad.mit.edu	37	7	27183048	27183048	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:27183048C>T	uc003syn.2	-	0	240	c.179G>A	c.(178-180)gGc>gAc	p.G60D	HOXA-AS3_uc003syr.2_Intron	NM_019102	NP_061975	P20719	HXA5_HUMAN	Homo sapiens homeobox A5 (HOXA5), mRNA.	60					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S59S(1)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GTGGCCGGAGCCCGAGCGGCC	0.697000														41			15		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38357818	38357818	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38357818G>A	uc003cib.2	+	8	1609	c.1536G>A	c.(1534-1536)gcG>gcA	p.A512A	SLC22A14_uc010hhc.1_Silent_p.A512A|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	512			A -> V (in dbSNP:rs2070492).			integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTTTCAGGGCGACAGGTCTGG	0.612000														59			17		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127648455	127648455	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:127648455C>T	uc003kuu.3	-	36	5189	c.4750G>A	c.(4750-4752)Gga>Aga	p.G1584R		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1584	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCTCGAGGTCCAAACTTCAGG	0.537000														326			30		0	0	1	0	0
TCRVA15	0	broad.mit.edu	37	14	22204515	22204515	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22204515G>A	uc001wbp.2	+	0	64	c.15G>A	c.(13-15)gcG>gcA	p.A5A	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Silent_p.A5A|TCRVA15_uc021rpc.1_5'Flank					SubName: Full=Tcell alpha chain; Flags: Fragment;																		GGCAAGTGGCGAGAGTGATCG	0.522000														11			5		0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130007814	130007814	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:130007814G>A	uc010lmd.1	+	12	1726	c.1106G>A	c.(1105-1107)aGc>aAc	p.S369N	CPA5_uc003vps.2_Missense_Mutation_p.S369N|CPA5_uc003vpt.2_Intron|CPA5_uc010lme.1_Missense_Mutation_p.S369N|CPA5_uc003vpu.1_Missense_Mutation_p.S369N|AK097910_uc003vpv.1_Non-coding_Transcript	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	369					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					ATTTTTGGCAGCATCAGCACC	0.572000														53			20		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140186830	140186830	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140186830C>T	uc003lhi.2	+	0	159	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.L20F|PCDHAC2_uc011daa.2_Missense_Mutation_p.L20F	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	34					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)			CTTACTTCTTCTCCTCGCAGC	0.567000														125			53		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440502	40440502	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:40440502G>A	uc003gvc.2	-	3	1119	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	RBM47_uc003gvd.2_Missense_Mutation_p.R137C|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.R99C|RBM47_uc003gvg.1_Missense_Mutation_p.R137C	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	137	RRM 1.					nucleus	RNA binding|nucleotide binding	p.R137C(4)|p.I136I(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGGCCCGGGCGGATCTCGTAG	0.622000														42			26		0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71329576	71329576	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:71329576G>A	uc010ukf.2	+	14	2083	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	LRRC49_uc002asu.3_Missense_Mutation_p.E578K|LRRC49_uc002asx.3_Missense_Mutation_p.E544K|LRRC49_uc002asw.3_Missense_Mutation_p.E588K|LRRC49_uc002asy.3_Missense_Mutation_p.E294K|LRRC49_uc002asz.3_Missense_Mutation_p.E560K	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	588						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TATTATCAACGAAGAAAATAA	0.313000														171			50		0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17311449	17311449	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17311449C>T	uc010eak.3	+	26	4525	c.4373_splice	c.e26-1	p.A1458_splice	MYO9B_uc002nfi.3_Splice_Site_p.A1458_splice|MYO9B_uc002nfj.1_Splice_Site_p.A1458_splice|MYO9B_uc002nfl.1_Splice_Site_p.A7_splice	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1458	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCCCCTCAGCCCCCTCCGGAC	0.612000														15			8		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67092929	67092929	+	Missense_Mutation	SNP	G	A	A	rs138992705	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:67092929G>A	uc002jhw.1	-	23	3309	c.3134C>T	c.(3133-3135)tCc>tTc	p.S1045F		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1045					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CCATAGCTGGGACTTAGCATT	0.323000														52			6		0	0	1	0	0
BC039356	0	broad.mit.edu	37	1	227618340	227618340	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:227618340G>A	uc001hqv.3	+	3		c.1575G>A								Homo sapiens cDNA clone IMAGE:5270051.																		GCTGTGGGTCGAAGATATGCT	0.502000														51			15		0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75431059	75431059	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:75431059C>T	uc010rru.2	+	1	114	c.114C>T	c.(112-114)ttC>ttT	p.F38F	MOGAT2_uc001oww.1_Silent_p.F38F|MOGAT2_uc010rrv.2_5'UTR	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	38					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CTGTGGGCTTCATAGCCCTCC	0.597000														177			80		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690487	33690487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:33690487G>A	uc002hjg.4	-	1	587	c.340C>T	c.(340-342)Cct>Tct	p.P114S	SLFN11_uc010ctr.3_Missense_Mutation_p.P114S|SLFN11_uc010ctp.3_Missense_Mutation_p.P114S|SLFN11_uc010ctq.3_Missense_Mutation_p.P114S|SLFN11_uc002hjh.4_Missense_Mutation_p.P114S	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	114						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCAGGGAAAGGGCCACTGCTC	0.458000														56			11		0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411015	5411015	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5411015G>A	uc010qzc.2	+	0	409	c.387G>A	c.(385-387)atG>atA	p.M129I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	129						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTCCTCATGATGTCCTTTG	0.488000														234			75		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935629	94935629	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94935629G>A	uc001ydf.3	-	1	764	c.603C>T	c.(601-603)acC>acT	p.T201T	SERPINA9_uc001yde.3_Silent_p.T101T|SERPINA9_uc010avc.3_Silent_p.T52T|SERPINA9_uc001ydg.3_Silent_p.T165T|SERPINA9_uc001ydh.1_Silent_p.T201T|SERPINA9_uc001ydi.1_Silent_p.T165T	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.	183					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)		CCTTCCCTTGGGTCTTCTTTT	0.453000														174			58		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73040873	73040873	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73040873G>A	uc004ebn.2	+	0		c.28834G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		AACTGTGAAAGGAAGGCTTTT	0.373000														20			10		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41743987	41743987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41743987C>T	uc010ehj.3	+	6	1112	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	AXL_uc010ehi.1_Missense_Mutation_p.R308C|AXL_uc010ehk.3_Missense_Mutation_p.R308C	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	308	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TTATCACATCCGCGTGGCATG	0.647000														151			51		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50611760	50611760	+	Silent	SNP	C	T	T	rs74987565	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:50611760C>T	uc003tpg.4	-	1	225	c.24G>A	c.(22-24)agG>agA	p.R8R	DDC_uc022ade.1_Silent_p.R8R|DDC_uc003tpf.4_Silent_p.R8R|DDC_uc022adb.1_Silent_p.R8R|DDC_uc022adc.1_Silent_p.R8R|DDC_uc022add.1_Silent_p.R8R|DDC_uc022adf.1_Silent_p.R8R	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	8					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CCTTCCCTCTCCTTCGGAATT	0.522000														154			58		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071765	9071765	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9071765G>A	uc002mkp.3	-	2	15885	c.15681C>T	c.(15679-15681)gtC>gtT	p.V5227V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5229	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						TAGAAGAGTTGACCCCTGTAC	0.498000														128			19		0	0	1	0	0
GLYR1	84656	broad.mit.edu	37	16	4881996	4881996	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:4881996G>A	uc002cxx.4	-	4	558	c.521C>T	c.(520-522)cCc>cTc	p.P174L	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Missense_Mutation_p.P105L|GLYR1_uc002cya.2_Missense_Mutation_p.P174L|GLYR1_uc010uxv.1_Intron	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	174					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						ATCCTTTGGGGGCCGACCCCG	0.498000														47			19		0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122536928	122536928	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:122536928G>A	uc004etq.4	+	7	1456	c.1164G>A	c.(1162-1164)atG>atA	p.M388I	GRIA3_uc004etr.4_Missense_Mutation_p.M388I|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.M372I	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	388					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TGTATGAAATGAAAGTCAGTG	0.348000														57			60		0	0	1	0	0
HERC2P4	440362	broad.mit.edu	37	16	32163513	32163513	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:32163513G>A	uc002ecx.3	-	1		c.258C>T								Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA.																		CCTTCGGGGTGATGCCAGTCA	0.547000														72			18		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75983031	75983031	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:75983031G>A	uc002baw.3	-	2	468	c.375C>T	c.(373-375)gtC>gtT	p.V125V		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	125	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAAACCCATCGACTGACAACG	0.627000														101			39		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046766	175046766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175046766C>T	uc001gkl.1	+	1	325	c.212C>T	c.(211-213)tCg>tTg	p.S71L	TNN_uc010pmx.1_Missense_Mutation_p.S71L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	71					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GATGGGGCTTCGCTCTTGGCC	0.587000														31			11		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160952867	160952867	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:160952867C>T	uc003qtl.3	-	39	6137	c.6017G>A	c.(6016-6018)gGa>gAa	p.G2006E		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4514	Kringle 18.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.G2006R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGAAGTGACTCCTTGTAAAAT	0.463000														45			33		0	0	1	0	0
S100Z	170591	broad.mit.edu	37	5	76173582	76173582	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:76173582C>T	uc003kep.1	+	3	555	c.225C>T	c.(223-225)ttC>ttT	p.F75F	S100Z_uc003keq.4_Silent_p.F75F	NM_130772	NP_570128	Q8WXG8	S100Z_HUMAN	Homo sapiens S100 calcium binding protein Z (S100Z), mRNA.	75	EF-hand 2.						calcium ion binding			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		TTAATGAATTCGTGGTCATGG	0.378000														75			7		0	0	1	0	0
TCEB3	6924	broad.mit.edu	37	1	24082811	24082811	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24082811C>T	uc001bho.3	+	8	2158	c.2098C>T	c.(2098-2100)Cgt>Tgt	p.R700C		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	700	Activation domain (By similarity).				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CAAGCCACCTCGTGACGTCCG	0.498000														8			3		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94514490	94514490	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94514490C>T	uc001dqh.3	-	17	2781	c.2677G>A	c.(2677-2679)Gcc>Acc	p.A893T	ABCA4_uc010otn.1_Missense_Mutation_p.A819T	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	893					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)		TTTTCCAGGGCTCTTTCTTCT	0.532000														79			17		0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102849529	102849529	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:102849529G>A	uc002tbs.3	+	9	1368	c.1242G>A	c.(1240-1242)gaG>gaA	p.E414E	IL1RL2_uc002tbt.3_Silent_p.E296E	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	414	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AGGTGTTGGAGAGACAATGTG	0.448000														73			39		0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72473587	72473587	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72473587C>T	uc002jkv.3	+	3	867	c.546C>T	c.(544-546)ctC>ctT	p.L182L	CD300A_uc002jkw.3_Silent_p.L69L|CD300A_uc010dfr.3_Silent_p.L69L|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	182					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TCCCGCTGCTCCTCTCCCTGC	0.493000														43			16		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197184344	197184344	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:197184344C>T	uc002utm.1	-	8	1453	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	HECW2_uc002utl.1_Missense_Mutation_p.E68K	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	424					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.I423V(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCATTGTGTTCGATAGCATCT	0.512000														45			22		0	0	1	0	0
PBLD	64081	broad.mit.edu	37	10	70051922	70051922	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:70051922G>A	uc001jns.1	-	4	560	c.357C>T	c.(355-357)atC>atT	p.I119I	PBLD_uc001jnr.1_Silent_p.I86I|PBLD_uc001jnt.1_Silent_p.I119I|PBLD_uc001jnu.1_Silent_p.I119I|PBLD_uc001jnv.1_Silent_p.I86I	NM_022129	NP_071412	P30039	PBLD_HUMAN	Homo sapiens phenazine biosynthesis-like protein domain containing (PBLD), transcript variant 1, mRNA.	119					biosynthetic process		isomerase activity	p.I119I(3)		endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGTCCAGGACGATGCCATCCT	0.468000														44			21		0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4534035	4534035	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4534035C>T	uc002mas.3	-	1	105	c.52G>A	c.(52-54)Gac>Aac	p.D18N	PLIN5_uc002mat.1_Missense_Mutation_p.D18N	NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	18						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						ACCTGCTGGTCCTGCTCCCAC	0.612000														8			5		0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275106	29275106	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29275106C>T	uc011dln.2	+	0	640	c.640C>T	c.(640-642)Ctc>Ttc	p.L214F		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V213V(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CTCCATTGTGCTCTCCTACAT	0.468000														136			64		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113510953	113510953	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:113510953G>A	uc003iau.3	-	10	3265	c.3054C>T	c.(3052-3054)ttC>ttT	p.F1018F	C4orf21_uc003iav.3_5'Flank|C4orf21_uc003iaw.3_Silent_p.F1018F	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	1018										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATTCTACCATGAAGTCTTCAT	0.383000														85			27		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122504	12122504	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:12122504C>T	uc003nac.3	+	3	2655	c.2476C>T	c.(2476-2478)Ctg>Ttg	p.L826L	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	826					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGTGTTTCTTCTGTCTGTACC	0.418000														133			64		0	0	1	0	0
KCTD14	65987	broad.mit.edu	37	11	77727683	77727683	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:77727683C>T	uc001oyw.4	-	1	749	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	NDUFC2-KCTD14_uc021qnr.1_3'UTR|NDUFC2-KCTD14_uc021qns.1_3'UTR|NDUFC2-KCTD14_uc021qnt.1_3'UTR	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA.	242						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E242K(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AAATGGAATTCGTTTCTTTTG	0.448000														44			21		0	0	1	0	0
SOX9	6662	broad.mit.edu	37	17	70120479	70120479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:70120479G>A	uc002jiw.3	+	2	1853	c.1481G>A	c.(1480-1482)aGc>aAc	p.S494N		NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	494					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CAGACCCACAGCCCCCAGCAC	0.607000														95			10		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11666769	11666769	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11666769C>T	uc002gne.3	+	35	7076	c.7008C>T	c.(7006-7008)atC>atT	p.I2336I	DNAH9_uc010coo.3_Silent_p.I1630I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2336					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2336I(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTAAGAAGATCATTCCCATCC	0.498000														78			41		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188426	7188426	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7188426C>T	uc010sfy.2	-	8	1353	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	510	Sushi 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	CTTTGCGCTTCGTGTTCCTTG	0.612000														56			12		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108216912	108216912	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108216912G>A	uc003dxa.1	-	6	722	c.665C>T	c.(664-666)tCc>tTc	p.S222F		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	222	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						CTTTTTCCTGGATTCAATCAT	0.433000														164			25		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38692558	38692558	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38692558C>T	uc002ohk.3	+	19	5550	c.5041C>T	c.(5041-5043)Ccg>Tcg	p.P1681S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1681					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCCGGACATCCCGCCTGCACA	0.657000														46			16		0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47350726	47350726	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:47350726G>A	uc010gqb.3	+	12	1086	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	PCBP3_uc002zhp.2_Intron|PCBP3_uc002zhq.2_Missense_Mutation_p.E275K|PCBP3_uc002zhs.2_Missense_Mutation_p.E249K|PCBP3_uc002zht.2_Missense_Mutation_p.E265K	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	275					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		acactcctccgaagaagctca	0.522000														42			14		0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177690298	177690298	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:177690298C>T	uc021yiz.1	-	8	908	c.550G>A	c.(550-552)Ggg>Agg	p.G184R	COL23A1_uc021yiy.1_5'UTR|COL23A1_uc010jkt.2_Silent_p.L31L	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	184	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCCGGAGGCCCAGCAGCTCCA	0.672000														21			9		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183675643	183675643	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:183675643C>T	uc003ivd.1	+	20	4198	c.4123C>T	c.(4123-4125)Cgc>Tgc	p.R1375C	ODZ3_uc003ive.1_Missense_Mutation_p.R788C	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1375					signal transduction	integral to membrane		p.R1375C(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TCGTCAAGTTCGCATTGCTGC	0.493000														22			6		0	0	1	0	0
CD28	940	broad.mit.edu	37	2	204591684	204591684	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:204591684G>A	uc002vah.4	+	1	603	c.381G>A	c.(379-381)aaG>aaA	p.K127K	CD28_uc010zio.2_Intron|CD28_uc010ftx.3_Intron|CD28_uc002vaj.4_Non-coding_Transcript|CD28_uc002vag.1_Non-coding_Transcript	NM_006139	NP_006130	P10747	CD28_HUMAN	Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA.	127	Ig-like V-type.				T cell costimulation|cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	SH3/SH2 adaptor activity|coreceptor activity|protease binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						ACAATGAGAAGAGCAATGGAA	0.373000														72			15		0	0	1	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679361	37679361	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:37679361G>A	uc001uwm.1	-	0	441	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	11					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.E10K(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CTCCCACAACGAGTTCGGCTT	0.592000														92			41		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086625	100086625	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100086625C>T	uc003uvd.1	+	3	1440	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	NYAP1_uc003uve.1_Silent_p.S209S	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	427	Pro-rich.																TCCCCAACTCCCACAGCATGA	0.746000														7			7		0	0	1	0	0
EXD2	55218	broad.mit.edu	37	14	69702850	69702850	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:69702850C>T	uc001xky.3	+	6	1383	c.1137C>T	c.(1135-1137)taC>taT	p.Y379Y	EXD2_uc001xkt.3_Silent_p.Y254Y|EXD2_uc001xkv.3_Silent_p.Y379Y|EXD2_uc001xkw.3_Silent_p.Y254Y|EXD2_uc001xku.3_Silent_p.Y124Y|EXD2_uc001xkx.3_Silent_p.Y254Y|EXD2_uc010aqt.3_Silent_p.Y379Y|EXD2_uc010tte.2_Silent_p.Y379Y	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	254					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CTCAGTGGTACCTGGACAAAG	0.468000														137			9		0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120349057	120349057	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:120349057C>T	uc001pxl.2	+	36	4060	c.3725C>T	c.(3724-3726)cCt>cTt	p.P1242L	ARHGEF12_uc009zat.3_Missense_Mutation_p.P1223L|ARHGEF12_uc009zau.1_Missense_Mutation_p.P1139L	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	1242					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TCACACCTGCCTGTCTCAGAA	0.398000			T	MLL	AML									73			35		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99640962	99640962	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:99640962G>A	uc001yga.3	-	3	2478	c.2211C>T	c.(2209-2211)ttC>ttT	p.F737F	BCL11B_uc001ygb.3_Silent_p.F666F	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	737						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ACGACGTGGCGAAGGGCGACT	0.706000			T	TLX3	T-ALL									11			9		0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134188628	134188628	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:134188628C>T	uc009zdf.3	+	18	2243	c.1883C>T	c.(1882-1884)cCa>cTa	p.P628L	GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	628					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TGGCTTCATCCAGAAGACAAT	0.408000														16			4		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104099448	104099448	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:104099448C>T	uc001tjw.3	+	36	4125	c.3939C>T	c.(3937-3939)ttC>ttT	p.F1313F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1313					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTCCTATTTCATGGGAAGAC	0.403000														46			14		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792974	131792975	+	Silent	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:131792974_131792975GG>AA	uc003ytd.4	-	17	3673_3674	c.3417_3418CC>TT	c.(3415-3420)atcctg>atTTtg	p.1139_1140IL>IL	ADCY8_uc010mds.3_Silent_p.1008_1009IL>IL	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1139					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGTCCTTCAGGATGAGATAGG	0.500000										HNSCC(32;0.087)				99			56		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43400359	43400359	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43400359C>T	uc003ouy.1	+	2	856	c.641C>T	c.(640-642)gCt>gTt	p.A214V	ABCC10_uc003ouz.1_Missense_Mutation_p.A171V	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	214						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCTGAGGTGGCTGAAGATGGG	0.637000														100			41		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116930318	116930318	+	Silent	SNP	C	T	T	rs148339655		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116930318C>T	uc011lxl.2	+	2	483	c.483C>T	c.(481-483)ctC>ctT	p.L161L	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Silent_p.L11L	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	161	Laminin G-like.|TSP N-terminal.				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						ACCTGGCCCTCGAGCTCCGAG	0.701000														37			14		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10452333	10452333	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10452333G>A	uc003bvt.3	-	2	805	c.366C>T	c.(364-366)tcC>tcT	p.S122S	ATP2B2_uc003bvv.3_Silent_p.S122S|ATP2B2_uc003bvw.3_Silent_p.S122S|ATP2B2_uc010hdp.2_Silent_p.S122S|ATP2B2_uc010hdo.3_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	122					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGTGGTAGAAGGACAGCCCCA	0.642000														215			74		0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39888301	39888301	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39888301C>T	uc002hxm.1	-	3	796	c.784G>A	c.(784-786)Gag>Aag	p.E262K	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.E262K|HAP1_uc002hxo.1_Missense_Mutation_p.E270K|HAP1_uc002hxp.1_Missense_Mutation_p.E262K	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	262	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			tcctcatcctcctcATCAGAA	0.512000														19			12		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361945	9361945	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9361945C>T	uc002mlb.1	+	0	226	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T75T(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CCTCCACACCCCCATGTACTT	0.577000														76			21		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9014622	9014622	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9014622C>T	uc002mkp.3	-	30	38557	c.38353G>A	c.(38353-38355)Gag>Aag	p.E12785K	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12787	SEA 5.			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						TATAGCTGCTCCCTGTCCACT	0.572000														113			32		0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132399036	132399036	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:132399036C>T	uc010sck.2	-	2	495	c.445G>A	c.(445-447)Gag>Aag	p.E149K	OPCML_uc001qgu.3_Missense_Mutation_p.E142K|OPCML_uc001qgs.3_Missense_Mutation_p.E149K|OPCML_uc001qgt.3_Missense_Mutation_p.E149K|OPCML_uc010scl.2_Missense_Mutation_p.E108K	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	149	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CTGCTTCCCTCATTCACAGTG	0.463000														60			23		0	0	1	0	0
FCHSD1	89848	broad.mit.edu	37	5	141029033	141029033	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:141029033G>A	uc003llk.3	-	4	355	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	FCHSD1_uc010jgg.3_5'Flank|FCHSD1_uc003llj.3_Non-coding_Transcript	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA.	102									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGACGCCTGGAGTCGGGTT	0.637000														119			72		0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954940	30954940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30954940G>A	uc003nsh.2	+	1	1239	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.A314T	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	330	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGCCAGCACAGCCACCAACTC	0.622000														335			26		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70007795	70007795	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70007795G>A	uc001opj.3	+	17	2153	c.1848G>A	c.(1846-1848)gtG>gtA	p.V616V	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Silent_p.V558V|ANO1_uc010rqk.2_Silent_p.V325V	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	616					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TGAAGTTTGTGAATTCCTACA	0.532000														139			44		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42680109	42680109	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42680109C>T	uc010ggo.3	+	3	615	c.575C>T	c.(574-576)tCa>tTa	p.S192L	TOX2_uc002xle.4_Missense_Mutation_p.S150L|TOX2_uc010ggp.3_Missense_Mutation_p.S150L|TOX2_uc002xlf.4_Missense_Mutation_p.S201L|TOX2_uc010zwk.2_Missense_Mutation_p.S70L	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCTCCCCATCACCGCCGGGG	0.637000														24			7		0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78212139	78212139	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:78212139C>T	uc010bky.2	-	9	800	c.36G>A	c.(34-36)aaG>aaA	p.K12K						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		TCTTCTCTTCCTTTAATGTTC	0.552000														364			57		0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705633	101705633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:101705633G>A	uc021oqt.1	+	0	1093	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	S1PR1_uc001dud.2_Missense_Mutation_p.E365K|S1PR1_uc009weg.2_Missense_Mutation_p.E365K	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	365					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CCAGAAAGACGAAGGGGACAA	0.547000														81			30		0	0	1	0	0
E2F1	1869	broad.mit.edu	37	20	32264687	32264687	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:32264687C>T	uc002wzu.4	-	6	1305	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	NECAB3_uc002wzm.4_5'Flank|NECAB3_uc002wzn.4_5'Flank|NECAB3_uc002wzo.4_5'Flank	NM_005225	NP_005216	Q01094	E2F1_HUMAN	Homo sapiens E2F transcription factor 1 (E2F1), mRNA.	389	Transactivation.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|apoptosis|cell proliferation|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	Rb-E2F complex|mitochondrion	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						GAGAAGTCCTCCCGCACATGC	0.687000														6			3		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155203411	155203411	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:155203411C>T	uc021xge.1	-	21	3009	c.2732G>A	c.(2731-2733)cGa>cAa	p.R911Q	PLCH1_uc021xgd.1_Missense_Mutation_p.R911Q|PLCH1_uc021xgf.1_Missense_Mutation_p.R873Q	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	911					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCAATGGATCGCTTCCGTAC	0.458000														64			17		0	0	1	0	0
WLS	79971	broad.mit.edu	37	1	68619310	68619310	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:68619310G>A	uc001dee.3	-	4	989	c.687C>T	c.(685-687)acC>acT	p.T229T	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Silent_p.T231T|WLS_uc001deg.2_Silent_p.T140T|WLS_uc009wbf.1_Silent_p.T186T|WLS_uc021oor.1_Silent_p.T186T	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.	231	Interacts with Wnt proteins (By similarity).				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						ACCACACCTTGGTGAAGCCTC	0.463000														49			19		0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23020050	23020050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:23020050G>A	uc004daj.3	+	0	1973	c.1876G>A	c.(1876-1878)Gag>Aag	p.E626K		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	626						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AAGACGCAAGGAGTTTTATTT	0.363000														13			15		0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5247968	5247968	+	Missense_Mutation	SNP	G	A	A	rs33930476		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5247968G>A	uc001mae.1	-	1	204	c.154C>T	c.(154-156)Cct>Tct	p.P52S	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	52			P -> R (in Willamette; O(2) affinity up; unstable).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	p.P52L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	ACAGCATCAGGAGTGGACAGA	0.537000									Sickle Cell Trait					115			37		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414114	105414114	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105414114C>T	uc010axc.1	-	6	7794	c.7674G>A	c.(7672-7674)gaG>gaA	p.E2558E	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.E2458E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2558						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCGGCTCCCTCCGGCACAG	0.627000														198			93		0	0	1	0	0
AZU1	566	broad.mit.edu	37	19	828354	828354	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:828354C>T	uc002lpz.1	+	1	199	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001700	NP_001691	P20160	CAP7_HUMAN	Homo sapiens azurocidin 1 (AZU1), mRNA.	61	Hydrophobic.|Peptidase S1.|Possesses antibiotic activity.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ATGCCCGCTTCGTGATGACCG	0.672000														82			17		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42485934	42485934	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42485934G>A	uc002osh.3	-	9	1396	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	ATP1A3_uc010xwf.2_Silent_p.I425I|ATP1A3_uc010xwg.2_Silent_p.I384I|ATP1A3_uc002osg.3_Silent_p.I414I|ATP1A3_uc010xwh.2_Silent_p.I427I			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	414					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGAGCCCAGCGATGTGAGACA	0.622000														52			20		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4854665	4854665	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4854665C>T	uc001qne.1	+	4	1023	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	311						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TGACAACATTCGTTTTGACAC	0.498000														39			25		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8971824	8971824	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8971824C>T	uc002mkp.3	-	78	42972	c.42768_splice	c.e78-1	p.T14256_splice	MUC16_uc010dwi.3_Splice_Site|MUC16_uc010dwj.3_Splice_Site_p.T1056_splice|MUC16_uc021uog.1_Splice_Site	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14319	SEA 15.			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						CGGAGTCCATCCTAGGGACAG	0.507000														9			5		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439638	150439638	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150439638C>T	uc022apw.1	+	5	1163	c.1023C>T	c.(1021-1023)gtC>gtT	p.V341V	GIMAP1-GIMAP5_uc003whr.2_Silent_p.V137V	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		TGAAAGAGGTCTTTGGGACAG	0.582000														100			34		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68995622	68995622	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:68995622G>A	uc003xxv.1	+	18	2054	c.2027_splice	c.e18+1	p.E676_splice	PREX2_uc003xxu.1_Splice_Site_p.E676_splice|PREX2_uc011lez.1_Splice_Site_p.E611_splice	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	676					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAAGCCAAGAGAGTAAGTTGT	0.318000														56			19		0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95676990	95676990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:95676990C>T	uc003ygq.4	+	6	893	c.710C>T	c.(709-711)tCa>tTa	p.S237L	ESRP1_uc003ygr.4_Missense_Mutation_p.S237L|ESRP1_uc003ygs.4_Missense_Mutation_p.S237L|ESRP1_uc003ygt.4_Missense_Mutation_p.S237L|ESRP1_uc003ygu.4_Missense_Mutation_p.S237L|ESRP1_uc003ygv.3_Missense_Mutation_p.S77L|ESRP1_uc003ygw.3_Missense_Mutation_p.S77L	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	237	RRM 1.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	p.S237*(3)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGGCAGTCTTCAGATCAAGAT	0.373000														65			19		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56081758	56081758	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56081758C>T	uc001shh.3	-	23	3412	c.3192G>A	c.(3190-3192)tgG>tgA	p.W1064*	ITGA7_uc001shg.3_Nonsense_Mutation_p.W1060*|ITGA7_uc010sps.2_Nonsense_Mutation_p.W967*|ITGA7_uc001shf.3_Nonsense_Mutation_p.W38*|ITGA7_uc009znw.3_Nonsense_Mutation_p.W307*|ITGA7_uc009znx.3_Nonsense_Mutation_p.W941*	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	1104					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCTCACCTTCCACAGGAGCA	0.592000														151			49		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117306422	117306422	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:117306422C>T	uc001prh.1	-	26	4996	c.4994G>A	c.(4993-4995)gGg>gAg	p.G1665E		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1605					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)		CAGTGCCACCCCCAGTGTGGC	0.577000														61			31		0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116960640	116960640	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:116960640A>T	uc003viz.3	-	1	591	c.291T>A	c.(289-291)ttT>ttA	p.F97L	WNT2_uc003vja.3_Missense_Mutation_p.W23R	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	97					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGACCCTGCCAAAAAGGCTGT	0.577000														17			5		0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50679518	50679518	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:50679518G>A	uc003jor.3	+	0	561	c.13G>A	c.(13-15)Gga>Aga	p.G5R		NM_002202	NP_002193	P61371	ISL1_HUMAN	Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA.	5					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GGGAGACATGGGAGATCCACC	0.522000														54			20		0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109762861	109762861	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:109762861G>A	uc021xqo.1	-	29	1702	c.1646C>T	c.(1645-1647)cCt>cTt	p.P549L	COL25A1_uc003hze.1_Missense_Mutation_p.P549L|COL25A1_uc021xqp.1_Missense_Mutation_p.P549L|COL25A1_uc003hzg.3_Missense_Mutation_p.P549L|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.P307L	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	549						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTTTGGTCCAGGAAGTCCATG	0.363000														36			20		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46888190	46888191	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46888190_46888191CC>TT	uc002zhi.3	+	1	702_703	c.681_682CC>TT	c.(679-684)ctcctt>ctTTtt	p.L228F	COL18A1_uc002zhg.3_Missense_Mutation_p.L48F	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	463					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGCTGCAGCTCCTTGGGGACCC	0.673000														71			29		0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48628106	48628106	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48628106C>T	uc002ird.3	+	10	1352	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L	SPATA20_uc002irc.3_Missense_Mutation_p.P55L|SPATA20_uc002ire.3_Missense_Mutation_p.P344L|SPATA20_uc002irf.3_Missense_Mutation_p.P388L|SPATA20_uc010wmv.1_3'UTR|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	388					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GCAGACTCGCCCCCAGAGCGG	0.672000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		103			41		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45402903	45402903	+	Silent	SNP	G	A	A	rs144183694	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45402903G>A	uc001zun.3	-	7	1091	c.888C>T	c.(886-888)atC>atT	p.I296I	DUOX2_uc010bea.3_Silent_p.I296I	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	296	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CATACACAGCGATGTTCTGAG	0.607000														35			13		0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137284808	137284808	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:137284808G>A	uc003lbz.2	-	16	2464	c.1930C>T	c.(1930-1932)Cca>Tca	p.P644S	FAM13B_uc003lcb.2_Missense_Mutation_p.P548S|FAM13B_uc003lca.2_Missense_Mutation_p.P644S	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	644					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AAGCTTTTTGGAAGTGTGTTA	0.383000														119			54		0	0	1	0	0
FNDC5	252995	broad.mit.edu	37	1	33333418	33333418	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:33333418C>T	uc001bwg.3	-	3	425	c.210G>A	c.(208-210)ggG>ggA	p.G70G	FNDC5_uc021okv.1_Silent_p.G70G|FNDC5_uc001bwf.2_Silent_p.G70G	NM_001171941	NP_001165412	Q8NAU1	FNDC5_HUMAN	Homo sapiens fibronectin type III domain containing 5 (FNDC5), transcript variant 1, mRNA.	129	Fibronectin type-III.					integral to membrane|peroxisomal membrane		p.G70E(1)		breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTTGGTTCCTCCCCATCTCTT	0.567000														57			15		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45134824	45134824	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:45134824G>A	uc003com.3	-	5	1707	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	524	CUB.					extracellular region|integral to membrane|plasma membrane		p.S523R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CCTCTTGTTGGAAGCTGGGGG	0.547000														74			32		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47489498	47489498	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47489498C>T	uc001cqt.3	+	0	259	c.9C>T	c.(7-9)ttC>ttT	p.F3F	CYP4X1_uc001cqr.3_Intron|CYP4X1_uc001cqs.3_Intron	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	3						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CCATGGAATTCTCCTGGCTGG	0.697000														68			16		0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96967012	96967012	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96967012C>T	uc001kke.3	+	3	576	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	C10orf129_uc009xuu.1_Missense_Mutation_p.R61C	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	151					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CAAGAAAATTCGCTATCAATT	0.458000														74			19		0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39793585	39793585	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:39793585C>T	uc002xjp.1	+	12	1351	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	PLCG1_uc002xjo.1_Silent_p.I410I|PLCG1_uc010zwe.1_Silent_p.I36I|PLCG1_uc010ggf.3_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	410	PI-PLC X-box.				T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				ACCCAGTCATCCTGTCCATTG	0.547000														48			27		0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36351438	36351438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36351438C>T	uc002ocb.4	+	6	1009	c.797C>T	c.(796-798)tCt>tTt	p.S266F	KIRREL2_uc002obz.4_Missense_Mutation_p.S266F|KIRREL2_uc002oca.4_Missense_Mutation_p.S216F|KIRREL2_uc002ocd.4_Missense_Mutation_p.S263F	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	266	Ig-like C2-type 3.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAAGGGGGCTCTCCGGTGCTC	0.642000														69			20		0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177142399	177142399	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:177142399C>T	uc003iuq.2	-	4	691	c.577G>A	c.(577-579)Gat>Aat	p.D193N	ASB5_uc003iup.2_Missense_Mutation_p.D140N	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	193					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TGGTCAACATCTATGCCCCAG	0.443000														108			11		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303874	151303874	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151303874C>T	uc022cgz.1	-	0	219	c.219G>A	c.(217-219)gaG>gaA	p.E73E	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.E73E|MAGEA10_uc004ffm.2_Silent_p.E73E|MAGEA10_uc004ffl.3_Silent_p.E73E	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	73								p.E73D(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAGAAACCTCCTCTGGGG	0.532000														47			55		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407199	38407199	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38407199C>T	uc003jlc.2	+	7	1444	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	EGFLAM_uc003jlb.2_Silent_p.G366G|EGFLAM_uc003jle.2_Silent_p.G132G|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	366	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCTGGGGGGGCTCGCGATGCC	0.537000														50			22		0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133805017	133805017	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:133805017C>T	uc004bzz.3	-	1	734	c.489G>A	c.(487-489)aaG>aaA	p.K163K	FIBCD1_uc011mcc.2_Silent_p.K163K|FIBCD1_uc011mcd.1_Silent_p.K171K	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	163					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TGCCATGCCCCTTCCGCAGCC	0.701000														25			5		0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57868667	57868667	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57868667C>T	uc001sod.3	-	15	2105	c.1912G>A	c.(1912-1914)Gat>Aat	p.D638N	ARHGAP9_uc001sny.3_Non-coding_Transcript|ARHGAP9_uc001snz.3_Missense_Mutation_p.D364N|ARHGAP9_uc001soa.3_Missense_Mutation_p.D237N|ARHGAP9_uc001sob.3_Missense_Mutation_p.D548N|ARHGAP9_uc001soc.3_Missense_Mutation_p.D548N|ARHGAP9_uc001soe.1_Missense_Mutation_p.D627N	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	567	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCTCTTTTATCCACAGCAGCA	0.532000														65			16		0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764073	110764073	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:110764073G>A	uc003vft.4	+	3	2291	c.1245G>A	c.(1243-1245)atG>atA	p.M415I	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.M415I|LRRN3_uc003vfs.4_Missense_Mutation_p.M415I|LRRN3_uc022akc.1_Missense_Mutation_p.M415I	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	415	LRRCT.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCAGGGACATGATGGAAATTT	0.443000														88			27		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215802311	215802311	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:215802311G>A	uc002vew.3	-	50	7685	c.7465C>T	c.(7465-7467)Cac>Tac	p.H2489Y	ABCA12_uc002vev.3_Missense_Mutation_p.H2171Y|ABCA12_uc010zjn.2_Missense_Mutation_p.H1416Y	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2489	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCTTCAAGTGAACTTTGACA	0.368000														64			21		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002628	122002628	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122002628G>A	uc003eew.4	+	6	2295	c.1857G>A	c.(1855-1857)acG>acA	p.T619T	CASR_uc003eev.4_Silent_p.T609T	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	609					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)	TGTCGTGGACGGAGCCCTTTG	0.527000														56			14		0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20045034	20045034	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:20045034C>T	uc002non.3	+	3	1446	c.1270C>T	c.(1270-1272)Ccc>Tcc	p.P424S		NM_031218	NP_112495	P35789	ZNF93_HUMAN	Homo sapiens zinc finger protein 93 (ZNF93), mRNA.	424						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TGGAGAGAAACCCTACAAATG	0.408000														88			21		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65263284	65263284	+	Silent	SNP	G	A	A	rs150377252		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:65263284G>A	uc001xht.3	-	9	1383	c.1332C>T	c.(1330-1332)ctC>ctT	p.L444L	SPTB_uc001xhr.3_Silent_p.L444L|SPTB_uc001xhs.3_Silent_p.L444L|SPTB_uc001xhu.3_Silent_p.L444L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	444					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.R443H(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTGGGCCACGAGGCGCTGGT	0.587000														76			14		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553026	140553026	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140553026G>A	uc003lit.3	+	0	784	c.610G>A	c.(610-612)Gag>Aag	p.E204K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	204	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATCGGGAAGAGATACCAGA	0.507000														88			9		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88583166	88583166	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:88583166C>T	uc001pcq.3	-	1	1019	c.819G>A	c.(817-819)gtG>gtA	p.V273V	GRM5_uc009yvm.3_Silent_p.V273V	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	273					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AGCAGGCCACCACCCGGGCCT	0.552000														62			28		0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19752564	19752564	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:19752564C>T	uc002zqa.1	+	5	897	c.768C>T	c.(766-768)gcC>gcT	p.A256A	TBX1_uc002zqb.3_Silent_p.A256A|TBX1_uc002zqc.3_Silent_p.A256A	NM_080647	NP_542378	O43435	TBX1_HUMAN	Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA.	256					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A256V(1)		breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				AGAAATATGCCGAGGAGAACT	0.542000														102			39		0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155488849	155488849	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155488849C>T	uc003ioa.4	+	3	634	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	FGB_uc010ipv.3_Missense_Mutation_p.R140C	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	199					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R199C(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TCGTGTGCTTCGTTCAATCCT	0.393000														111			52		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168175434	168175434	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:168175434C>T	uc010jjg.3	-	19	2563	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	SLIT3_uc003mab.3_Missense_Mutation_p.E715K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	715					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTACTCTCCTCGTTGCCTGTG	0.632000														49			8		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2377216	2377216	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:2377216C>T	uc002wfy.1	+	3	550	c.489C>T	c.(487-489)atC>atT	p.I163I	TGM6_uc010gal.1_Silent_p.I163I	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	163					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACAGCGGCATCATCTTCCGAG	0.617000														51			17		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809042	18809042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:18809042C>T	uc001bax.3	+	0	1619	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C	KLHDC7A_uc009vpg.3_Missense_Mutation_p.R305C	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	523						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCGCTGGCTCGCATGCCCCC	0.672000														100			38		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7682521	7682521	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7682521G>A	uc002mgu.4	+	17	3600	c.3499G>A	c.(3499-3501)Gaa>Aaa	p.E1167K	CAMSAP3_uc002mgv.4_Missense_Mutation_p.E1140K|CAMSAP3_uc002mgw.3_Missense_Mutation_p.E270K	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	1140	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CAAGGTGAACGAACCGCAGAA	0.597000														35			11		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3174736	3174736	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:3174736C>T	uc021xkv.1	+	30	4189	c.4044C>T	c.(4042-4044)tcC>tcT	p.S1348S		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1348					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTGGCTCCTCCAGTGTGAGGC	0.587000														80			31		0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4356353	4356353	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:4356353G>A	uc002fxt.3	+	7	1010	c.966G>A	c.(964-966)ggG>ggA	p.G322G	SPNS3_uc002fxu.3_Silent_p.G195G	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	322					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GCGTCATTGGGGTCATCTTGG	0.587000														58			36		0	0	1	0	0
NFX1	4799	broad.mit.edu	37	9	33294597	33294597	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:33294597C>T	uc003zsr.3	+	1	358	c.205C>T	c.(205-207)Cat>Tat	p.H69Y	NFX1_uc011lnw.2_Missense_Mutation_p.H69Y|NFX1_uc003zso.3_Missense_Mutation_p.H69Y|NFX1_uc003zsp.2_Missense_Mutation_p.H69Y|NFX1_uc010mjr.2_Missense_Mutation_p.H69Y|NFX1_uc003zsq.3_Missense_Mutation_p.H69Y	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	69					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CTCTGCTGTTCATCAGCATAG	0.458000														154			45		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21031193	21031193	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:21031193C>T	uc001bdr.4	-	4	988	c.870G>A	c.(868-870)tcG>tcA	p.S290S	KIF17_uc001bds.4_Silent_p.S290S	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	290					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCGTCAGCTTCGAGTCACGGT	0.617000														67			26		0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30602580	30602580	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:30602580G>A	uc001iva.4	-	8	1770	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	MTPAP_uc001ivb.4_Silent_p.F699F	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.	569					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TGGTTTTTGTGAAATTTTCTG	0.363000														132			55		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32037544	32037544	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32037544G>A	uc003nzl.2	-	14	5575	c.5373C>T	c.(5371-5373)tcC>tcT	p.S1791S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1873	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGAGGCCCACGGAGTTCTGGG	0.617000														24			6		0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862124	25862124	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:25862124G>A	uc003nfk.4	-	3	547	c.437C>T	c.(436-438)tCt>tTt	p.S146F	SLC17A3_uc003nfi.4_Intron|SLC17A3_uc011djz.1_Missense_Mutation_p.S146F|SLC17A3_uc011dka.1_Intron	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	290					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TGCAAACAAAGAAATGCCAAC	0.483000														15			6		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1437219	1437219	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1437219G>A	uc002qwr.3	+	3	275	c.189G>A	c.(187-189)aaG>aaA	p.K63K	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Silent_p.K63K|TPO_uc002qww.3_Silent_p.K63K|TPO_uc002qwx.3_Silent_p.K63K|TPO_uc002qwu.3_Silent_p.K63K|TPO_uc010yio.2_Silent_p.K63K|TPO_uc010yip.2_Silent_p.K63K	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	63					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GAAACCTCAAGAAAAGAGGAA	0.363000														65			32		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6175052	6175052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:6175052G>A	uc003mwv.3	-	11	1631	c.1508C>T	c.(1507-1509)gCt>gTt	p.A503V	F13A1_uc011dib.2_Missense_Mutation_p.A440V	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	503					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGGCTTTTTAGCTCCGTACAT	0.463000														54			16		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148258	34148258	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:34148258G>A	uc004ddg.3	-	0	2190	c.2138C>T	c.(2137-2139)cCt>cTt	p.P713L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	713								p.P713T(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTCAATCAAAGGTTCATCACT	0.423000														37			53		0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81304583	81304583	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:81304583G>A	uc001xux.2	-	9	1060	c.889C>T	c.(889-891)Caa>Taa	p.Q297*	CEP128_uc010asz.2_5'Flank|CEP128_uc001xuz.2_Nonsense_Mutation_p.Q297*|CEP128_uc001xuy.1_Nonsense_Mutation_p.Q155*	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	297						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CCTTCTGATTGATTCAATAAC	0.333000														100			12		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75019754	75019754	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75019754T>A	uc001xqa.3	-	4	1420	c.1033A>T	c.(1033-1035)Acg>Tcg	p.T345S		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	345					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ATTTTCTCCGTGAGGTTCAGC	0.582000														30			6		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47894564	47894564	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:47894564G>A	uc003tny.2	-	29	4809	c.4775C>T	c.(4774-4776)tCc>tTc	p.S1592F		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1592					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGGGTTTTCGGAAAGCTCAGT	0.388000														94			32		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73821098	73821098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:73821098G>A	uc011dyh.2	+	6	1444	c.1097G>A	c.(1096-1098)aGa>aAa	p.R366K	KCNQ5_uc003pgj.4_Missense_Mutation_p.R366K|KCNQ5_uc011dyi.2_Missense_Mutation_p.R366K|KCNQ5_uc010kat.3_Missense_Mutation_p.R366K|KCNQ5_uc003pgk.3_Missense_Mutation_p.R366K|KCNQ5_uc011dyj.2_Missense_Mutation_p.R366K|KCNQ5_uc011dyk.2_Missense_Mutation_p.R125K	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	366					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTTGAGAAAAGAAGGAACCCA	0.398000														86			51		0	0	1	0	0
ANKRD22	118932	broad.mit.edu	37	10	90588376	90588376	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:90588376G>A	uc001kfj.4	-	2	629	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA.	87										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		GATAATCAATGAAGGTAAATT	0.323000														120			50		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51497470	51497470	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:51497470C>T	uc003pah.1	-	64	11834	c.11558G>A	c.(11557-11559)aGg>aAg	p.R3853K		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3853					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTCTCCTTCCTAGTCACAGG	0.478000														81			24		0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71389609	71389609	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71389609C>T	uc003hfk.1	+	3	252	c.163C>T	c.(163-165)Cca>Tca	p.P55S	AMTN_uc010ihy.1_Missense_Mutation_p.P54S	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Homo sapiens amelotin (AMTN), mRNA.	55					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			AAGTCTGATACCATTAACACA	0.388000														108			52		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215831647	215831647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:215831647G>A	uc002vew.3	-	38	6029	c.5809C>T	c.(5809-5811)Ctt>Ttt	p.L1937F	ABCA12_uc002vev.3_Missense_Mutation_p.L1619F|ABCA12_uc010zjn.2_Missense_Mutation_p.L864F	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1937					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.S1936S(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAAGCTGGAAGGGAGTGATAG	0.383000														62			32		0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54107574	54107574	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54107574G>A	uc001sef.3	-	12	1846	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	CALCOCO1_uc001see.3_Nonsense_Mutation_p.R69*|CALCOCO1_uc010som.2_Nonsense_Mutation_p.R483*|CALCOCO1_uc010son.2_Nonsense_Mutation_p.R445*|CALCOCO1_uc009znd.3_Nonsense_Mutation_p.R568*|CALCOCO1_uc001seg.3_Nonsense_Mutation_p.R393*|CALCOCO1_uc001seh.2_Nonsense_Mutation_p.R568*	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	568	C-terminal AD (CTNNB1 binding site) (By similarity).				Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.P567R(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GAAGCCTCTCGAGGCCCAGCA	0.607000														119			10		0	0	1	0	0
C1orf114	57821	broad.mit.edu	37	1	169394081	169394081	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169394081C>T	uc001gga.1	-	1	253	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	C1orf114_uc001gfz.1_Missense_Mutation_p.E29K|C1orf114_uc009wvq.1_Missense_Mutation_p.E29K|C1orf114_uc001ggb.3_Missense_Mutation_p.E29K|C1orf114_uc001ggc.1_Missense_Mutation_p.E29K	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	29										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TTTTCATTTTCATTAATTAAC	0.299000														84			19		0	0	1	0	0
SIT1	27240	broad.mit.edu	37	9	35650207	35650207	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35650207C>T	uc003zxe.1	-	3	428	c.331G>A	c.(331-333)Gat>Aat	p.D111N	SIT1_uc022bgl.1_Missense_Mutation_p.D32N	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	Homo sapiens signaling threshold regulating transmembrane adaptor 1 (SIT1), mRNA.	111					regulation of T cell activation|signal transduction	integral to plasma membrane	SH2 domain binding|kinase binding			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGAGTTGGATCCTGCTGGTCT	0.617000														45			21		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596346	24596346	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:24596346C>T	uc011djo.2	-	2	1056	c.556G>A	c.(556-558)Ggc>Agc	p.G186S	KIAA0319_uc011djp.2_Missense_Mutation_p.G141S|KIAA0319_uc003neh.1_Missense_Mutation_p.G186S|KIAA0319_uc011djq.1_Missense_Mutation_p.G177S|KIAA0319_uc011djr.1_Missense_Mutation_p.G186S	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	186					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GGCAGTAGGCCCCAGTCCGTG	0.617000														35			17		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74276190	74276190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74276190G>A	uc002jrd.1	-	11	4354	c.4174C>T	c.(4174-4176)Cgg>Tgg	p.R1392W	QRICH2_uc010dgw.1_Missense_Mutation_p.R236W	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1392							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GATTTCCACCGATCCTCCAGC	0.672000														76			25		0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137727218	137727218	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:137727218C>T	uc003lcy.1	+	7	2097	c.1897C>T	c.(1897-1899)Cct>Tct	p.P633S	KDM3B_uc010jew.1_Missense_Mutation_p.P289S|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	633					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	p.E632Q(1)		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						CCGAGAAGAGCCTTCTAATCC	0.493000														194			36		0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154471640	154471640	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154471640G>A	uc001ffb.3	-	1	690	c.666C>T	c.(664-666)gtC>gtT	p.V222V	SHE_uc001ffc.3_Non-coding_Transcript	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	222										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CGTTCTCTCCGACTCTCTCTG	0.433000														74			30		0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57004472	57004472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57004472C>T	uc001njo.3	-	0	456	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	3						integral to plasma membrane	G-protein coupled receptor activity	p.E2K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TCACCACCTTCCTCCATGCTG	0.562000														38			21		0	0	1	0	0
POTED	317754	broad.mit.edu	37	GL000213.1	138805	138805	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000213.1:138805G>A	uc011mfl.1	-	0	531	c.483C>T	c.(481-483)ctC>ctT	p.L161L		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	161						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CAGTGTCCCTGAGCATGACGA	0.577000														27			31		0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7245290	7245290	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7245290C>T	uc002ggd.2	+	2	341	c.135C>T	c.(133-135)ctC>ctT	p.L45L		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	45	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GCACTGGTCTCCTGGAAAGTG	0.612000														51			30		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141359167	141359167	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141359167C>T	uc002tvj.1	-	41	7813	c.6841G>A	c.(6841-6843)Gat>Aat	p.D2281N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2281					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.W2280S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACAGTGTATCCCAGGCTCTG	0.453000										TSP Lung(27;0.18)				32			11		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39134430	39134430	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:39134430G>A	uc003jls.3	-	7	1764	c.1697C>T	c.(1696-1698)gCt>gTt	p.A566V	FYB_uc003jlt.3_Missense_Mutation_p.A566V|FYB_uc003jlu.3_Missense_Mutation_p.A566V|FYB_uc011cpl.2_Missense_Mutation_p.A576V	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	566	SH3.				NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			AATCTCTACAGCAGTTGTTTT	0.323000														40			14		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176314308	176314308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176314308C>T	uc003mfa.3	-	11	1723	c.1631G>A	c.(1630-1632)gGg>gAg	p.G544E	HK3_uc003mez.3_Missense_Mutation_p.G100E	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	544	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTCGTGCCCCCGAGGTCCAG	0.647000														39			18		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114277763	114277763	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:114277763C>T	uc003ibe.4	+	37	8089	c.7989C>T	c.(7987-7989)tcC>tcT	p.S2663S	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.S2678S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2630					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.S2663Y(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGTCTTCCTCCTCAGAAAGTG	0.478000														69			21		0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32500794	32500794	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:32500794C>T	uc003amc.3	+	13	1937	c.1687C>T	c.(1687-1689)Ctg>Ttg	p.L563L	SLC5A1_uc011alz.2_Silent_p.L436L	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	563					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GTGTTGGAGCCTGCGCAACAG	0.498000														57			11		0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56524877	56524877	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56524877C>T	uc001sjr.3	+	3	739	c.621C>T	c.(619-621)atC>atT	p.I207I	ESYT1_uc001sjq.3_Silent_p.I207I	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	207						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AAGAGCAGATCCTGCTGGACT	0.517000														51			5		0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37007241	37007241	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:37007241C>T	uc001uvr.4	+	1	530	c.180C>T	c.(178-180)gcC>gcT	p.A60A	CCNA1_uc010teo.2_Silent_p.A16A|CCNA1_uc010abq.3_Silent_p.A16A|CCNA1_uc010abp.3_Silent_p.A16A|CCNA1_uc001uvs.4_Silent_p.A59A|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	60					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CTACAGTGGCCCGAGGTCCCG	0.587000														85			13		0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153217341	153217341	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:153217341G>A	uc004fjp.3	-	19	5739	c.5211C>T	c.(5209-5211)gcC>gcT	p.A1737A		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	1737					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACCGTGCCGGCCAGCTCAT	0.657000														7			22		0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9199886	9199886	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:9199886G>A	uc001mhl.3	-	7	1956	c.1699C>T	c.(1699-1701)Ccc>Tcc	p.P567S	DENND5A_uc010rbw.2_Missense_Mutation_p.P567S|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	567	dDENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCAGGTAGGGCTCAGGCTGA	0.453000														27			11		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20620505	20620505	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:20620505G>A	uc003gpr.1	+	36	4667	c.4463G>A	c.(4462-4464)gGa>gAa	p.G1488E	SLIT2_uc003gps.1_Missense_Mutation_p.G1480E	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1488	CTCK.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGGTGTGCAGGAGGGCAGTGC	0.532000														33			20		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5744379	5744379	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:5744379G>A	uc001qnm.2	-	16	1827	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	590						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGATGACCACGAGGTTGATGA	0.532000														18			5		0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63974589	63974589	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:63974589G>A	uc001srp.1	-	18	1934	c.1753C>T	c.(1753-1755)Cgt>Tgt	p.R585C	DPY19L2_uc010sso.1_Missense_Mutation_p.R32C	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	585					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TTCTCAAAACGAACTCTGCGA	0.358000														59			13		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24880576	24880576	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24880576G>A	uc001wpf.4	+	5	2880	c.2562G>A	c.(2560-2562)acG>acA	p.T854T		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	854					DNA integration	integral to membrane	DNA binding	p.T854M(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACTTTCTGACGAAGCTACACT	0.552000											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		185			95		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256102	240256102	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240256102G>A	uc010pye.2	+	0	918	c.693G>A	c.(691-693)gaG>gaA	p.E231E	FMN2_uc010pyd.2_Silent_p.E231E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	231					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCGCCGAGGAGCCTGCAGCGC	0.736000														14			5		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115350393	115350393	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115350393C>T	uc001lal.3	-	39	5064	c.4900G>A	c.(4900-4902)Gac>Aac	p.D1634N	NRAP_uc009xyb.3_Missense_Mutation_p.D387N|NRAP_uc001laj.3_Missense_Mutation_p.D1634N|NRAP_uc001lak.3_Missense_Mutation_p.D1599N	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1634						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGCTCCGGGTCGCAGGTGGGC	0.667000														52			15		0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96312912	96312912	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:96312912C>T	uc004atw.3	+	11	2238	c.2213C>T	c.(2212-2214)gCc>gTc	p.A738V	FAM120A_uc004aty.3_Missense_Mutation_p.A519V|FAM120A_uc004atz.3_Missense_Mutation_p.A387V|FAM120A_uc010mrg.3_Missense_Mutation_p.A51V	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	738						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGCTAGATGCCTTCCTGGCT	0.557000														39			18		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111078149	111078149	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:111078149G>A	uc004epl.1	-	7	2815	c.1896_splice	c.e7+1	p.A632_splice	TRPC5_uc004epm.1_Splice_Site_p.A632_splice	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	632					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCTACTCACGGCAATAAGCT	0.443000														43			77		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80782861	80782861	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:80782861C>T	uc010ysh.2	+	10	1589	c.1584C>T	c.(1582-1584)ctC>ctT	p.L528L	CTNNA2_uc010yse.2_Silent_p.L528L|CTNNA2_uc010ysf.2_Silent_p.L528L|CTNNA2_uc010ysg.2_Silent_p.L528L|CTNNA2_uc010ysi.2_Silent_p.L160L	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	528					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGATAGCCCTCCAAGAGGGCG	0.483000														84			29		0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554830	40554830	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:40554830G>A	uc003xnr.3	-	3	429	c.283C>T	c.(283-285)Caa>Taa	p.Q95*	ZMAT4_uc003xns.3_Nonsense_Mutation_p.Q95*	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	95						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			ATTTTGCCTTGATAATGGGAA	0.517000														123			43		0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100123421	100123421	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:100123421C>T	uc010avs.3	+	2	1052	c.987C>T	c.(985-987)ttC>ttT	p.F329F	HHIPL1_uc001ygl.1_Silent_p.F329F	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	329					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCTACATCTTCACTGGAGATG	0.507000														357			147		0	0	1	0	0
NUBP2	10101	broad.mit.edu	37	16	1838710	1838710	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1838710C>T	uc002cmw.4	+	6	900	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	NUBP2_uc002cmx.4_Missense_Mutation_p.P130S	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	Homo sapiens nucleotide binding protein 2 (NUBP2), mRNA.	271						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						CGCGTGCCTCCCCTGACTAAG	0.662000														23			5		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197411416	197411416	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197411416G>A	uc001gtz.3	+	10	4208	c.3999G>A	c.(3997-3999)gaG>gaA	p.E1333E	CRB1_uc010poz.2_Silent_p.E1309E|CRB1_uc009wza.3_Silent_p.E1221E|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.E797E|CRB1_uc010ppd.2_Silent_p.E814E|CRB1_uc001gub.1_3'UTR	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1333	EGF-like 19; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGCGCTGCGAGGTGGACGTAA	0.488000														221			63		0	0	1	0	0
ZNF141	7700	broad.mit.edu	37	4	367194	367194	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:367194C>T	uc003gaa.2	+	3	1145	c.968C>T	c.(967-969)tCc>tTc	p.S323F	ZNF141_uc003gab.3_Intron	NM_003441	NP_003432	Q15928	ZN141_HUMAN	Homo sapiens zinc finger protein 141 (ZNF141), mRNA.	323					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TTTAATAGGTCCACAACCCTT	0.378000														101			36		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841548	8841548	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8841548C>T	uc010xkg.2	+	0	158	c.158C>T	c.(157-159)tCc>tTc	p.S53F		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTGTGGACTCCCGGCTCCAT	0.547000														114			44		0	0	1	0	0
TMPPE	643853	broad.mit.edu	37	3	33134930	33134930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:33134930G>A	uc003cfk.2	-	1	970	c.758C>T	c.(757-759)tCg>tTg	p.S253L	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.S116L|TMPPE_uc021wux.1_Missense_Mutation_p.S253L	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN	Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.	253						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						CCGCAGGACCGAGGCTTCTGA	0.547000														97			24		0	0	1	0	0
C14orf102	55051	broad.mit.edu	37	14	90770546	90770546	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:90770546G>A	uc001xyi.2	-	4	971	c.738C>T	c.(736-738)ccC>ccT	p.P246P	C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.2_Silent_p.P15P	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	246							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		GCTCAGATGAGGGAGGTTCAG	0.448000														119			43		0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149853837	149853837	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:149853837G>A	uc010zbu.2	+	17	2478	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twt.3_Missense_Mutation_p.D247N|KIF5C_uc002twu.1_5'Flank	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	695					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GCGGTTGCAGGATGCTGAAGA	0.423000														31			10		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21221496	21221496	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21221496C>T	uc010bwn.1	-	2	368	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	ZP2_uc002dii.2_Missense_Mutation_p.E57K|ZP2_uc010bwo.3_Missense_Mutation_p.E96K	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	57					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)		ATTTCCCTTTCATCGCAAGTG	0.478000														78			25		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16878368	16878368	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:16878368G>A	uc001ioo.3	-	62	10098	c.10046C>T	c.(10045-10047)tCa>tTa	p.S3349L		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3349	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGAAATCTTGAATTTCCGTG	0.378000														83			28		0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17941319	17941319	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17941319G>A	uc002nhn.4	-	21	3189	c.3089C>T	c.(3088-3090)cCc>cTc	p.P1030L	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.P1030L	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	1030	Protein kinase 2.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CACGGCCGAGGGGCTGCAGCT	0.617000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									17			7		0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37005709	37005709	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:37005709G>A	uc002oee.2	-	3	1354	c.432C>T	c.(430-432)gcC>gcT	p.A144A	ZNF260_uc010eey.2_Silent_p.A144A|ZNF260_uc002oef.2_Silent_p.A144A|ZNF260_uc002oed.2_Silent_p.A144A|ZNF260_uc021uti.1_Silent_p.A144A	NM_001012756	NP_001159510	Q3ZCT1	ZN260_HUMAN	Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA.	144					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TGCCGTTAAAGGCTTTGCCAC	0.393000														166			75		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10071223	10071223	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10071223C>T	uc002mmq.1	-	66	5188	c.5102G>A	c.(5101-5103)gGa>gAa	p.G1701E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1701	Fibrillar collagen NC1.				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)			CTTCGTCTGTCCTTTCCGGAG	0.577000														103			40		0	0	1	0	0
LINC00477	144360	broad.mit.edu	37	12	24736816	24736816	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:24736816G>A	uc001rgb.1	-	0		c.287C>T								Homo sapiens long intergenic non-protein coding RNA 477 (LINC00477), non-coding RNA.																		CCTAGGAAACGAAGTAAAAAG	0.527000														65			8		0	0	1	0	0
SPINK13	153218	broad.mit.edu	37	5	147661689	147661689	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:147661689C>T	uc003lpc.3	+	3	334	c.131C>T	c.(130-132)cCa>cTa	p.P44L	AK054753_uc003lpb.1_Intron|SPINK13_uc010jgt.3_Non-coding_Transcript	NM_001040129	NP_001035218	Q1W4C9	ISK13_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 13 (putative) (SPINK13), mRNA.	44	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						ATGTATATCCCACTGGACCCT	0.438000														111			36		0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18152433	18152433	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:18152433G>A	uc001bat.3	+	2	736	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	174						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CAAGACGCTGGAGTTCGCCGG	0.617000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			5		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26915838	26915838	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:26915838C>T	uc003jgs.1	-	2	592	c.423G>A	c.(421-423)ccG>ccA	p.P141P	CDH9_uc010iug.3_Silent_p.P141P	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	141	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTCCGATTCCGGTTCCACCT	0.398000														186			68		0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141370273	141370273	+	Silent	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:141370273A>C	uc003yvh.2	-	8	1680	c.1665T>G	c.(1663-1665)gcT>gcG	p.A555A	TRAPPC9_uc003yvj.2_Silent_p.A457A|TRAPPC9_uc003yvi.1_Silent_p.A448A	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	457					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TCTGGACCGCAGCCCAGCCTC	0.512000														36			22		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175471	57175471	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57175471C>T	uc010ygn.2	-	1	1323	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.									p.D388N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TTGCCGCAGTCGTGGCAGGGG	0.701000														14			12		0	0	1	0	0
GOLGA7	51125	broad.mit.edu	37	8	41355058	41355058	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:41355058C>T	uc003xnu.3	+	2	220	c.142C>T	c.(142-144)Cga>Tga	p.R48*	GOLGA7_uc022auf.1_Nonsense_Mutation_p.R48*|GOLGA7_uc003xnw.3_Nonsense_Mutation_p.R48*	NM_016099	NP_057183	Q7Z5G4	GOGA7_HUMAN	Homo sapiens golgin A7 (GOLGA7), transcript variant 1, mRNA.	48						Golgi membrane				breast(1)|large_intestine(1)	2	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			AGAAACAGTTCGAACTCTAAA	0.348000														137			76		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547288	43547288	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43547288G>A	uc002zag.1	+	17	3850	c.3850G>A	c.(3850-3852)Gag>Aag	p.E1284K	UMODL1_uc002zad.1_Missense_Mutation_p.E1084K|UMODL1_uc002zae.1_Missense_Mutation_p.E1212K|UMODL1_uc002zaf.1_Missense_Mutation_p.E1156K|UMODL1_uc002zal.1_Missense_Mutation_p.E106K|UMODL1_uc010gpa.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1156						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGTCCTGACGGAGTGCTGGGC	0.567000														64			31		0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10251308	10251308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10251308C>T	uc003bve.1	+	3	536	c.460C>T	c.(460-462)Ctc>Ttc	p.L154F		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	154					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|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GCCGGCCTTTCTCCAGCCTCC	0.602000														232			116		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31322961	31322961	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:31322961G>A	uc003jhe.2	+	11	2279	c.1919G>A	c.(1918-1920)cGa>cAa	p.R640Q		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	640					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.R640Q(2)|p.R640*(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGGCGGCAGCGAAAAAAAGAG	0.453000														63			30		0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27302010	27302010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27302010C>T	uc002rii.4	+	0	576	c.77C>T	c.(76-78)cCt>cTt	p.P26L	EMILIN1_uc010eyq.2_Missense_Mutation_p.P26L	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	26					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTACCCTCCTCGAGGTTTC	0.716000														25			12		0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47384223	47384223	+	Missense_Mutation	SNP	C	T	T	rs71737295		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:47384223C>T	uc003crd.3	+	8	1367	c.1241C>T	c.(1240-1242)aCc>aTc	p.T414I	KLHL18_uc011bav.2_Missense_Mutation_p.T302I	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	414										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ACAGTGGTGACCTCGATGAGC	0.507000														48			18		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762775	176762775	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176762775G>A	uc001gkz.3	+	19	6264	c.5100G>A	c.(5098-5100)ctG>ctA	p.L1700L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1700	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.T1699N(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGACACTCTGGAGCACTGGA	0.473000														66			24		0	0	1	0	0
LDLRAP1	26119	broad.mit.edu	37	1	25891695	25891695	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:25891695C>T	uc001bkl.4	+	7	893	c.779C>T	c.(778-780)tCg>tTg	p.S260L	LDLRAP1_uc009vrw.3_Non-coding_Transcript|LDLRAP1_uc009vrx.3_Missense_Mutation_p.S90L	NM_015627	NP_056442	Q5SW96	ARH_HUMAN	Homo sapiens low density lipoprotein receptor adaptor protein 1 (LDLRAP1), mRNA.	260	AP-2 complex binding.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCGTTTTCGAGGTAATGC	0.562000														127			55		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103091352	103091352	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:103091352C>T	uc001phn.1	+	57	9091	c.8947_splice	c.e57-1	p.P2983_splice	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Splice_Site_p.P2983_splice	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2983	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)		TCTCTTTTAGCCTTTAGTCAA	0.303000														91			38		0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71853601	71853601	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:71853601G>A	uc001jqm.3	+	5	1047	c.588_splice	c.e5+1	p.K196_splice		NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	196	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						TGGGACAGAAGGTAACAAAGA	0.418000														33			11		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128498536	128498536	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128498536G>A	uc003vnz.4	+	47	8346	c.8137G>A	c.(8137-8139)Gaa>Aaa	p.E2713K	FLNC_uc003voa.4_Missense_Mutation_p.E2680K	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2713	Interaction with INPPL1.|Self-association site, tail (By similarity).				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGGGGTGACGAAAGTGTCCC	0.542000														33			20		0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45728116	45728116	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45728116C>T	uc002pay.1	-	5	501	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	154										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GCAGATGCTTCCCGGGCCGGC	0.652000														17			7		0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75408412	75408412	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:75408412G>A	uc001jut.4	-	3	1150	c.998C>T	c.(997-999)tCc>tTc	p.S333F	SYNPO2L_uc001jus.4_Missense_Mutation_p.S109F	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	333						cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GTCCAGCTCGGACTCACTCGT	0.627000														63			16		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139889761	139889761	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:139889761C>T	uc003lfs.2	+	21	4253	c.4099C>T	c.(4099-4101)Cgc>Tgc	p.R1367C	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.R1386C|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.R1367C|ANKHD1-EIF4EBP3_uc003lft.1_Missense_Mutation_p.R578C|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.R847C|ANKHD1-EIF4EBP3_uc003lfv.1_Missense_Mutation_p.R444C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.R106C|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.R5C	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1367						cytoplasm|nucleus	RNA binding	p.R1367H(1)		breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCAGCATTTCGCAAGGTAAT	0.388000														55			28		0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75115153	75115153	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:75115153C>T	uc002snd.3	+	15	4269	c.2343C>T	c.(2341-2343)atC>atT	p.I781I		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	781	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CAAGGGGCATCTTTGAAACCA	0.512000														130			53		0	0	1	0	0
TSPAN9	10867	broad.mit.edu	37	12	3387589	3387589	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:3387589C>T	uc001qlp.3	+	3	249	c.66C>T	c.(64-66)ctC>ctT	p.L22L	TSPAN9_uc021qtd.1_Silent_p.L22L	NM_006675	NP_006666	O75954	TSN9_HUMAN	Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.	22						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			CTTTCCAGCTCTGTGGCTGTG	0.602000														116			42		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61463546	61463546	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61463546G>A	uc002ljl.3	+	4	479	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	SERPINB7_uc002ljm.3_Missense_Mutation_p.R128Q|SERPINB7_uc010xet.2_Missense_Mutation_p.R111Q|SERPINB7_uc010dqg.3_Missense_Mutation_p.R128Q	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	128					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AAAGTGGAGCGAGTTGACTTT	0.328000														62			11		0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113588899	113588899	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113588899C>T	uc002tii.1	-	5	654	c.567G>A	c.(565-567)ttG>ttA	p.L189L	IL1B_uc002tih.1_Silent_p.L158L	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	189					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	p.V188M(1)		breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TATCATCTTTCAACACGCAGG	0.468000														166			69		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22134094	22134094	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22134094C>T	uc010tmd.2	+	0	798	c.798C>T	c.(796-798)tcC>tcT	p.S266S		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CCAGCTTCTCCATTGACAAGG	0.507000														54			15		0	0	1	0	0
HTATIP2	10553	broad.mit.edu	37	11	20404709	20404709	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:20404709C>T	uc009yia.1	+	5	753	c.687C>T	c.(685-687)gcC>gcT	p.A229A	HTATIP2_uc009yib.1_Silent_p.A229A|HTATIP2_uc001mpx.2_Silent_p.A263A|HTATIP2_uc001mpz.2_Silent_p.A229A	NM_006410	NP_006401	Q9BUP3	HTAI2_HUMAN	Homo sapiens HIV-1 Tat interactive protein 2, 30kDa (HTATIP2), transcript variant 2, mRNA.	229					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity			large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AGAACAAGGCCATCCATGACC	0.493000														25			7		0	0	1	0	0
ACOT7	11332	broad.mit.edu	37	1	6445578	6445578	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6445578G>A	uc001ams.3	-	0	306	c.149C>T	c.(148-150)cCc>cTc	p.P50L	ACOT7_uc001amt.3_Intron|ACOT7_uc001amu.3_Intron	NM_181864	NP_863654	O00154	BACH_HUMAN	Homo sapiens acyl-CoA thioesterase 7 (ACOT7), transcript variant hBACHb, mRNA.	50						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GGCTCCACAGGGTGGGAGATC	0.652000														156			47		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593759	179593759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179593759C>T	uc021vsy.1	-	61	15499	c.15274G>A	c.(15274-15276)Gat>Aat	p.D5092N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1753N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6019	Ig-like 31.						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)			TAGACATTATCATCTTCATCA	0.408000														21			6		0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27781201	27781201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:27781201C>T	uc002dow.3	+	20	4019	c.3995C>T	c.(3994-3996)tCc>tTc	p.S1332F		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	1332										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTCCACGTCTCCCTGGATGGC	0.567000														136			68		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113547238	113547238	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113547238C>T	uc022blv.1	+	11	1662	c.1528C>T	c.(1528-1530)Ctt>Ttt	p.L510F	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.L421F|MUSK_uc022blu.1_Missense_Mutation_p.L411F	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	510					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ATTTGTGCTTCTTACCATAAC	0.373000														123			40		0	0	1	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340392	29340392	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29340392C>T	uc002kxa.2	-	0	452	c.233G>A	c.(232-234)cGa>cAa	p.R78Q		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.	78					transport	integral to membrane|mitochondrial inner membrane											ATACAAATTTCGAAATCCATC	0.463000														85			43		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72299375	72299376	+	Missense_Mutation	DNP	CC	TT	TT	rs144093353		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72299375_72299376CC>TT	uc001jrd.4	+	14	2046_2047	c.1765_1766CC>TT	c.(1765-1767)ccc>TTc	p.P589F	KIAA1274_uc001jre.4_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	589										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						AAGCGAGCCTCCCCCAGGCAAG	0.653000														51			18		0	0	1	0	0
TSHB	7252	broad.mit.edu	37	1	115576077	115576077	+	Missense_Mutation	SNP	G	A	A	rs121918669		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:115576077G>A	uc001efs.1	+	1	162	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K		NM_000549	NP_000540	P01222	TSHB_HUMAN	Homo sapiens thyroid stimulating hormone, beta (TSHB), mRNA.	32					G-protein coupled receptor protein signaling pathway|anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity	p.E32K(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|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)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		AATGCACATCGAAAGGAGAGA	0.423000														139			42		0	0	1	0	0
NPIPL2	440348	broad.mit.edu	37	16	74425514	74425514	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:74425514C>A	uc010vmt.1	+	5	686	c.685C>A	c.(685-687)Ctt>Att	p.L229I				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	290										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						TCTTGCTCCTCTTCCACCCTC	0.502000														311			21		2.65835e-16	2.67086e-16	1	1	0
OR10Z1	128368	broad.mit.edu	37	1	158577148	158577148	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158577148G>A	uc010pio.2	+	0	920	c.920G>A	c.(919-921)gGg>gAg	p.G307E		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GCTTTCAGAGGGAGATTGCTG	0.468000														157			60		0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11577595	11577595	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11577595G>A	uc002mry.1	-	1	437	c.57C>T	c.(55-57)ggC>ggT	p.G19G	ELAVL3_uc002mrx.1_Silent_p.G19G	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	19					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCAgggccgggccggccgggc	0.652000														29			9		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126226912	126226912	+	Silent	SNP	C	T	T	rs139167502	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:126226912C>T	uc010hsi.2	-	4	492	c.438G>A	c.(436-438)tcG>tcA	p.S146S	UROC1_uc003eiz.2_Silent_p.S146S	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	146					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CTGTCATCTTCGACAAGTAGA	0.587000														134			21		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560363	44560363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:44560363C>T	uc002lcr.1	-	0	1626	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	425					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTAGCCGAATCCCAGGACTCA	0.547000														98			41		0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628876	71628876	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:71628876C>T	uc004agy.3	-	0	164	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	45	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	p.F44F(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CTGAGCCGTTCGAACTGATCC	0.602000														55			13		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933664	62933664	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62933664G>A	uc001nwr.1	-	6	1137	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_3'UTR	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	379					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TCTGCAACAGGAAAACATTGT	0.478000														64			25		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39019006	39019006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39019006C>T	uc002oit.3	+	73	11015	c.10885C>T	c.(10885-10887)Cgg>Tgg	p.R3629W	RYR1_uc002oiu.3_Missense_Mutation_p.R3624W|RYR1_uc002oiv.1_Missense_Mutation_p.R544W|RYR1_uc010xuf.1_Missense_Mutation_p.R549W	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3629					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R3629W(2)|p.R3628C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAAACAGCGCCGGCGGGCAGT	0.612000														75			21		0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75852018	75852018	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:75852018C>T	uc001oxc.3	+	14	1902	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	UVRAG_uc010rrw.2_Missense_Mutation_p.S453F|UVRAG_uc001oxd.3_Missense_Mutation_p.S182F|UVRAG_uc010rrx.2_Missense_Mutation_p.S182F|UVRAG_uc010rry.2_Missense_Mutation_p.S110F	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	554					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TTGGATACCTCCTTGGACTTC	0.502000														53			16		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38723748	38723748	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38723748G>A	uc021yzh.1	+	10	1517	c.1408_splice	c.e10-1	p.V470_splice	DNAH8_uc003ooe.2_Splice_Site_p.V253_splice	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCAATGTTAGGTTTCCATGGC	0.303000														52			23		0	0	1	0	0
ARHGEF38	54848	broad.mit.edu	37	4	106534592	106534592	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:106534592C>T	uc003hxv.2	+	2	582	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	ARHGEF38_uc003hxu.3_Nonsense_Mutation_p.Q146*	NM_001242729	NP_001229658	Q9NXL2	ARH38_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 38 (ARHGEF38), transcript variant 1, mRNA.	146	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						GTCCGTGCATCAGATATCAGC	0.438000														157			12		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913201	6913201	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6913201G>A	uc010rau.2	-	0	531	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTCACAAAAGAAATGAGCAA	0.493000														54			9		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639174	7639174	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7639174G>A	uc001qsz.3	-	9	2507	c.2379C>T	c.(2377-2379)tcC>tcT	p.S793S	CD163_uc001qta.3_Silent_p.S793S|CD163_uc009zfw.2_Silent_p.S826S	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	793	SRCR 7.				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						GCCAAATGCGGGATTCTTTTC	0.507000														170			67		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30740710	30740710	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30740710C>T	uc002dze.1	+	26	6329	c.5944C>T	c.(5944-5946)Cct>Tct	p.P1982S	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P1777S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1982					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)			TGTCATGCCTCCTGTGGAGGC	0.567000														32			14		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120148155	120148155	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:120148155G>A	uc001txj.2	-	38	5028	c.4972C>T	c.(4972-4974)Ctg>Ttg	p.L1658L	CIT_uc001txh.2_Silent_p.L1135L|CIT_uc001txi.2_Silent_p.L1616L	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1616	CNH.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AAGACATTCAGGGCGTAGAGC	0.498000														66			44		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100680532	100680532	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100680532C>T	uc003uxp.1	+	2	5888	c.5835C>T	c.(5833-5835)acC>acT	p.T1945T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1945	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T1945N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAATCAACACCCTTTCAACAA	0.502000														375			146		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33015577	33015577	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:33015577C>T	uc001wrq.3	+	3	1888	c.1718C>T	c.(1717-1719)tCc>tTc	p.S573F	AKAP6_uc010aml.3_Missense_Mutation_p.S570F	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	573					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCAGAAACATCCAGTTCACCA	0.443000														93			37		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84527518	84527518	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:84527518G>A	uc002bjz.4	+	8	952	c.728_splice	c.e8-1	p.R243_splice	ADAMTSL3_uc002bjy.1_Splice_Site_p.R243_splice|ADAMTSL3_uc010bmt.1_Splice_Site_p.R243_splice	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	243						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTTTCCCAGGAGAAGAAAAT	0.398000														117			21		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021043	132021043	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:132021043G>A	uc002tsn.2	+	14	2067	c.2015G>A	c.(2014-2016)aGa>aAa	p.R672K	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.R272K|POTEE_uc002tsl.2_Missense_Mutation_p.R254K|POTEE_uc010fmy.1_Missense_Mutation_p.R136K	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	672							ATP binding										AGCCAGCTAAGAGAAAAGAAA	0.363000														45			6		0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108032498	108032498	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:108032498G>A	uc001pjz.4	-	16	3417	c.3315C>T	c.(3313-3315)tcC>tcT	p.S1105S	NPAT_uc010rvv.2_Silent_p.S161S	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	1105					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GTTTTAAGGTGGAGGACACAT	0.433000														66			26		0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74401595	74401596	+	Splice_Site	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74401595_74401596GG>AA	uc002jrm.4	-	2	542	c.477_splice	c.e2+1	p.T159_splice	UBE2O_uc002jrn.4_Splice_Site_p.T159_splice	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	159							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CAGGACTCACGGTGGATCGCAT	0.604000														10			4		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120989131	120989131	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:120989131G>A	uc010rzo.2	+	5	907	c.907G>A	c.(907-909)Gag>Aag	p.E303K		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	303	VWFC.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.E303K(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TAGCCCCTACGAGGTGTGCGA	0.537000														67			27		0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444075	5444075	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5444075C>T	uc010qzd.2	+	0	735	c.645C>T	c.(643-645)ctC>ctT	p.L215L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L214V(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCTCTGCTCATTGTGATCT	0.493000														151			46		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39046462	39046462	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:39046462C>T	uc003thb.2	+	1	156	c.13C>T	c.(13-15)Ctt>Ttt	p.L5F	POU6F2_uc022acb.1_Missense_Mutation_p.L5F|AK023033_uc003tha.1_Intron	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	5					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GAGTGCTCTTCTTCAGGTATT	0.348000														104			15		0	0	1	0	0
TREML1	340205	broad.mit.edu	37	6	41117391	41117391	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:41117391G>A	uc011duc.2	-	5	931	c.887C>T	c.(886-888)tCg>tTg	p.S296L	TREML1_uc003opx.3_3'UTR|TREML1_uc011dud.2_Missense_Mutation_p.S185L	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 1 (TREML1), mRNA.	296					calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGCCCACACGAGGTCCCTCC	0.547000														77			29		0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60785797	60785798	+	Missense_Mutation	DNP	CC	TT	TT	rs111507268	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60785797_60785798CC>TT	uc001nqq.3	+	11	2099_2100	c.1874_1875CC>TT	c.(1873-1875)tcc>tTT	p.S625F	CD6_uc001nqp.3_Missense_Mutation_p.S624F|CD6_uc001nqs.3_Intron|CD6_uc001nqr.3_Intron|CD6_uc001nqt.3_Intron	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	625					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AGCACCTCATCCGGGGAGTGGT	0.624000														19			8		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27517295	27517296	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:27517295_27517296GG>TA	uc002dov.2	-	9	1734_1735	c.1694_1695CC>TA	c.(1693-1695)tcc>tTA	p.S565L	GTF3C1_uc002dou.3_Missense_Mutation_p.S565L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	565						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGGAGACAAAGGACACGTTGGG	0.589000														82			50		0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82880378	82880378	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:82880378C>T	uc001ozx.4	+	7	3346	c.3001C>T	c.(3001-3003)Caa>Taa	p.Q1001*	PCF11_uc010rsu.1_Nonsense_Mutation_p.Q1132*	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	1001	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCCTTTAGTCCAACAAGGAGG	0.507000														42			16		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82467539	82467539	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82467539C>T	uc003uhx.2	-	14	14506	c.14217G>A	c.(14215-14217)ggG>ggA	p.G4739G	PCLO_uc003uhv.2_Silent_p.G4739G|PCLO_uc003uht.1_Silent_p.G190G|PCLO_uc003uhu.1_Silent_p.G169G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4610	Ser-rich.				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						CTTACCCTCTCCCTGGAAGAA	0.328000														18			8		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974824	20974824	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20974824G>A	uc010vbe.2	-	52	10382	c.10382C>T	c.(10381-10383)cCt>cTt	p.P3461L	DNAH3_uc010vbd.2_Missense_Mutation_p.P896L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3461					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCAAGACCCAGGGAGTTGCTC	0.532000														53			9		0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3486894	3486894	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3486894C>T	uc002cvd.3	-	3	989	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	Homo sapiens zinc finger protein 597 (ZNF597), mRNA.	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TTAGTAGATTCGTAGGTGTTT	0.433000														138			30		0	0	1	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74698746	74698746	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:74698746G>A	uc004ecg.3	-	2	716	c.238C>T	c.(238-240)Cca>Tca	p.P80S	ZDHHC15_uc004ech.3_Missense_Mutation_p.P71S|ZDHHC15_uc011mqo.1_Non-coding_Transcript|ZDHHC15_uc004eci.2_Missense_Mutation_p.P71S	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	Homo sapiens zinc finger, DHHC-type containing 15 (ZDHHC15), transcript variant 1, mRNA.	80						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						GGCTGCTGTGGGAGTGTAAAG	0.348000														9			13		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18393374	18393374	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:18393374G>A	uc003wza.3	-	15	3126	c.3023C>T	c.(3022-3024)tCg>tTg	p.S1008L	PSD3_uc003wyx.4_Missense_Mutation_p.S337L|PSD3_uc003wyy.3_Missense_Mutation_p.S474L|PSD3_uc003wyz.3_Missense_Mutation_p.S309L	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	1009					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACTCGAGTGCGACTTCTTCAG	0.498000														66			29		0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72926672	72926672	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72926672G>A	uc010wrp.2	+	5	1034	c.942G>A	c.(940-942)gtG>gtA	p.V314V		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	314						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGTTCAAGTGAGCGGGGACG	0.602000														37			7		0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15115135	15115135	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15115135G>A	uc001int.2	+	8	1118	c.864G>A	c.(862-864)ggG>ggA	p.G288G	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Silent_p.G235G	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	235					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.G288R(1)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						AGCTTCCAGGGGGTCACTTTT	0.343000														43			20		0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30885930	30885930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:30885930G>A	uc003cep.2	-	6	727	c.680C>T	c.(679-681)tCt>tTt	p.S227F	GADL1_uc003ceq.1_Missense_Mutation_p.S227F	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	227					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	CCCAAGAAAAGAGGCTGCCTT	0.433000														152			52		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033554	95033554	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:95033554G>A	uc010avd.3	+	2	1282	c.1008G>A	c.(1006-1008)atG>atA	p.M336I	SERPINA4_uc001ydk.3_Missense_Mutation_p.M299I|SERPINA4_uc001ydl.3_Missense_Mutation_p.M299I	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	299					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.R335M(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		AGATGCTAATGAGGTGGAACA	0.438000														53			18		0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43259160	43259160	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43259160G>A	uc002ouo.2	-	3	1066	c.968C>T	c.(967-969)cCa>cTa	p.P323L	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.P323L|PSG8_uc010ein.3_Missense_Mutation_p.P201L|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	323	Ig-like C2-type 2.					extracellular region		p.Y322D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CAGGGTGACTGGGTAACTGCG	0.478000														244			43		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189689737	189689737	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:189689737C>T	uc011bsk.2	-	11	2147	c.1759G>A	c.(1759-1761)Gat>Aat	p.D587N	LEPREL1_uc003fsg.3_Missense_Mutation_p.D406N	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	587	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	p.L586F(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCCTCTGGATCCAACAAACAG	0.453000														34			14		0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89735049	89735049	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:89735049C>T	uc001dnc.3	-	3	727	c.190_splice	c.e3+1	p.G64_splice	GBP5_uc001dnd.3_Splice_Site_p.G64_splice|GBP5_uc001dne.1_Splice_Site_p.G64_splice	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	64						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TACCACTCACCCTTGTTCTTC	0.507000														113			49		0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96315551	96315551	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:96315551C>T	uc003kmv.1	+	1	1243	c.729C>T	c.(727-729)atC>atT	p.I243I	LNPEP_uc003kmw.1_Silent_p.I229I	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	243					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		ATGGACAGATCGCCATTGTTG	0.408000														78			5		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108013806	108013806	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:108013806C>T	uc001tmk.1	+	10	3017	c.2496C>T	c.(2494-2496)atC>atT	p.I832I	BTBD11_uc009zut.1_Silent_p.I713I|BTBD11_uc001tmj.3_Silent_p.I832I|BTBD11_uc001tml.1_Silent_p.I369I	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	832						integral to membrane	DNA binding	p.R831Q(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTTTGCGGATCGCCTTCCAGC	0.607000														30			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083067	9083067	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9083067G>A	uc002mkp.3	-	0	8952	c.8748C>T	c.(8746-8748)acC>acT	p.T2916T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2917	Ser-rich.|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						AGTCTGGAATGGTGTTCAGGG	0.483000														45			17		0	0	1	0	0
INO80C	125476	broad.mit.edu	37	18	33060487	33060487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:33060487G>A	uc010dmt.3	-	3	422	c.305C>T	c.(304-306)cCc>cTc	p.P102L	INO80C_uc002kyw.1_Missense_Mutation_p.P66L|INO80C_uc002kyx.4_Missense_Mutation_p.P11L|INO80C_uc002kyy.4_Missense_Mutation_p.P66L	NM_001098817	NP_001092287	Q6PI98	IN80C_HUMAN	Homo sapiens INO80 complex subunit C (INO80C), transcript variant 1, mRNA.	66					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						AAACTCAGAGGGCACCATTTT	0.408000														152			17		0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25936266	25936266	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:25936266C>T	uc010crg.3	+	16	2233	c.1788C>T	c.(1786-1788)ctC>ctT	p.L596L	KSR1_uc002gzm.3_Silent_p.L376L|KSR1_uc002gzn.3_5'Flank	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	732					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E595*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACAAAGATCTCAAATCTAAGA	0.532000														20			25		0	0	1	0	0
LALBA	3906	broad.mit.edu	37	12	48963801	48963801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48963801C>T	uc001rrt.3	-	0	29	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_002289	NP_002280	P00709	LALBA_HUMAN	Homo sapiens lactalbumin, alpha- (LALBA), mRNA.	1					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						CAAAGAACCTCATTTTGGCTA	0.483000														81			41		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229949	87229949	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:87229949G>A	uc003ydq.1	-	2	1027	c.929C>T	c.(928-930)tCa>tTa	p.S310L	SLC7A13_uc003ydr.1_Missense_Mutation_p.S301L	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	310						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TGGTCTCGATGATTTAAATAT	0.383000														153			52		0	0	1	0	0
BDKRB1	623	broad.mit.edu	37	14	96730073	96730073	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:96730073C>T	uc021sbj.1	+	0	54	c.54C>T	c.(52-54)ctC>ctT	p.L18L	BDKRB1_uc001yfh.3_Silent_p.L18L	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	18					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		AGAGCCAGCTCTTCCCTCAAA	0.517000														21			12		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4732836	4732836	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:4732836G>A	uc003bqc.3	+	30	4142	c.3792G>A	c.(3790-3792)gaG>gaA	p.E1264E	ITPR1_uc021wsi.1_Silent_p.E1270E|ITPR1_uc021wsj.1_Silent_p.E1255E|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1279					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGATCCTGGAGGCAGTAACCA	0.443000														22			3		0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750032	142750032	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142750032C>T	uc011ksv.2	+	0	595	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CTGGGACTTTCTGATGGCCTT	0.532000														153			72		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282402	152282402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152282402C>T	uc001ezu.1	-	2	4996	c.4960G>A	c.(4960-4962)Ggc>Agc	p.G1654S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1654	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACGAGTGCCTGATTGTCTG	0.562000									Ichthyosis					398			145		0	0	1	0	0
C18orf26	284254	broad.mit.edu	37	18	52262300	52262300	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:52262300C>T	uc002lfq.1	+	1	312	c.266C>T	c.(265-267)tCa>tTa	p.S89L		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	89						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		CTTGCACATTCAAGATGTCTA	0.448000														69			55		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906709	129906709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:129906709G>A	uc001lke.3	-	12	3590	c.3395C>T	c.(3394-3396)cCa>cTa	p.P1132L	MKI67_uc001lkf.3_Missense_Mutation_p.P772L|MKI67_uc009yav.1_Missense_Mutation_p.P707L|MKI67_uc009yaw.1_Missense_Mutation_p.P282L	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1132	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)				TTCTGGTGGTGGAGATTTGCA	0.463000														395			158		0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54872709	54872709	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54872709G>A	uc002qfk.1	-	2	488	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L	LAIR1_uc002qfl.1_Silent_p.L60L|LAIR1_uc002qfm.1_Silent_p.L59L|LAIR1_uc002qfn.1_Silent_p.L59L|LAIR1_uc010yex.2_Silent_p.L53L|LAIR1_uc002qfo.3_Silent_p.L42L	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	60	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCCCTCTCCAGGCGGAATGTT	0.562000														150			64		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77677753	77677753	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77677753C>T	uc011cbx.2	+	7	5814	c.4861C>T	c.(4861-4863)Cac>Tac	p.H1621Y	SHROOM3_uc003hkg.3_Missense_Mutation_p.H1399Y	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1621					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CATGAGCGTTCACGCCCAACT	0.537000														66			34		0	0	1	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172582164	172582164	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:172582164C>T	uc002uha.1	+	7	713	c.548C>T	c.(547-549)cCa>cTa	p.P183L	DYNC1I2_uc002uhb.1_Missense_Mutation_p.P157L|DYNC1I2_uc010zds.1_Missense_Mutation_p.P175L|DYNC1I2_uc002uhc.3_Missense_Mutation_p.P157L|DYNC1I2_uc002uhd.1_Missense_Mutation_p.P177L|DYNC1I2_uc002uhe.1_Missense_Mutation_p.P183L|DYNC1I2_uc002uhf.1_Missense_Mutation_p.P157L|DYNC1I2_uc010zdt.1_Missense_Mutation_p.P175L|DYNC1I2_uc002uhg.1_Missense_Mutation_p.P98L|DYNC1I2_uc010zdu.1_5'Flank	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 2 (DYNC1I2), mRNA.	183					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			GCTCCTAAACCACCTATTGAA	0.254000														18			7		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43936053	43936053	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:43936053G>A	uc003bdy.2	-	27	4147	c.3833C>T	c.(3832-3834)cCc>cTc	p.P1278L	EFCAB6_uc003bdz.2_Missense_Mutation_p.P1126L|EFCAB6_uc010gzi.2_Missense_Mutation_p.P1126L	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTCCTGAGTGGGCAATGAGAG	0.612000														72			6		0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116037787	116037787	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:116037787C>T	uc001lbl.1	+	6	1002	c.681C>T	c.(679-681)atC>atT	p.I227I	VWA2_uc001lbk.1_Silent_p.I227I|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	227						extracellular region				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)		GCTCGGCCATCTGCTCCAGCG	0.647000														35			4		0	0	1	0	0
GNL1	2794	broad.mit.edu	37	6	30521163	30521163	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30521163G>A	uc003nqh.3	-	5	2163	c.772C>T	c.(772-774)Cct>Tct	p.P258S	GNL1_uc011dmi.2_Missense_Mutation_p.P120S|GNL1_uc011dmj.2_Missense_Mutation_p.P256S|GNL1_uc011dmk.2_Intron	NM_005275	NP_005266	P36915	GNL1_HUMAN	Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA.	258					T cell mediated immunity|response to DNA damage stimulus|signal transduction	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGGTCCCGAGGAAAAGAGGTG	0.572000														166			52		0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648104	130648104	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:130648104C>T	uc001uii.3	+	0	1101	c.617C>T	c.(616-618)tCg>tTg	p.S206L	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	206					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		AAGAGCGCGTCGTGCGCGCCG	0.726000														22			4		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671263	39671263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:39671263C>T	uc021wjc.1	+	0	80	c.80C>T	c.(79-81)cCc>cTc	p.P27L	KCNJ15_uc002ywv.3_Missense_Mutation_p.P27L|KCNJ15_uc002yww.3_Missense_Mutation_p.P27L|KCNJ15_uc002ywx.3_Missense_Mutation_p.P27L	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	27					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GCCAACAGACCCCGCGTCATG	0.552000														50			26		0	0	1	0	0
WFDC3	140686	broad.mit.edu	37	20	44416581	44416581	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44416581G>A	uc002xpf.1	-	3	336	c.252C>T	c.(250-252)tcC>tcT	p.S84S	WFDC3_uc002xpj.1_Non-coding_Transcript|WFDC3_uc002xph.1_Non-coding_Transcript|WFDC3_uc010ghh.1_Non-coding_Transcript	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN	Homo sapiens WAP four-disulfide core domain 3 (WFDC3), mRNA.	84	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity	p.S84>?(2)		endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				TTTTCAAACAGGATTGTTTCC	0.463000														64			26		0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2790449	2790449	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:2790449C>T	uc002lwj.3	+	1	202	c.47C>T	c.(46-48)tCt>tTt	p.S16F		NM_003249	NP_003240	P52888	THOP1_HUMAN	Homo sapiens thimet oligopeptidase 1 (THOP1), mRNA.	16					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		GACGCAGCATCTCCGTGCTCT	0.602000														80			39		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106899194	106899194	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106899194C>T	uc001kyi.1	+	7	1479	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	418						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CGTGTCTTATCGAAGAGAGGC	0.502000														106			48		0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150868515	150868515	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:150868515C>T	uc022cgt.1	+	2	104	c.55C>T	c.(55-57)Cgt>Tgt	p.R19C	PRRG3_uc004few.2_Missense_Mutation_p.R19C	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	19						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ACGATTCCCTCGTGCCAATGA	0.582000														17			27		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287712	16287712	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:16287712C>T	uc010gqp.2	-	0	226	c.174G>A	c.(172-174)agG>agA	p.R58R	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	58								p.L57L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCATCTTGCTCCTGAGTGTCT	0.607000														368			65		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167674678	167674678	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:167674678C>T	uc010jjd.3	+	26	6707	c.6707C>T	c.(6706-6708)cCc>cTc	p.P2236L	ODZ2_uc003lzr.4_Missense_Mutation_p.P2006L|ODZ2_uc003lzt.4_Missense_Mutation_p.P1609L|ODZ2_uc010jje.3_Missense_Mutation_p.P1500L	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.P2236P(1)		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)		CGCCTCATGCCCTTGCGCTAT	0.557000														35			12		0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127915924	127915924	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:127915924G>A	uc010mwv.3	-	6	889	c.668C>T	c.(667-669)cCt>cTt	p.P223L	PPP6C_uc004bpg.4_Missense_Mutation_p.P186L|PPP6C_uc010mww.3_Missense_Mutation_p.P164L|PPP6C_uc011lzr.2_Missense_Mutation_p.P39L	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	186					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TCCTTTATGAGGAATTTCCTG	0.433000														58			5		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140779449	140779449	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140779449C>T	uc003lkf.2	+	0	1755	c.1755C>T	c.(1753-1755)acC>acT	p.T585T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.T585T	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	590	Cadherin 6.				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)			ACCTGGTGACCAAGGTAGTGG	0.682000														49			12		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81201555	81201555	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:81201555G>A	uc002bfw.1	+	12	1965	c.1705G>A	c.(1705-1707)Gga>Aga	p.G569R	KIAA1199_uc010unn.1_Missense_Mutation_p.G569R	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	569										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGACGAAAGGGGAGGTTATGA	0.552000														77			23		0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55044969	55044969	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55044969C>T	uc010yfa.1	+	2		c.195C>T			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GACAAGTTCTCCCTGTCAGCC	0.552000														74			7		0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44640909	44640909	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44640909G>A	uc002xqz.3	+	6	1150	c.1131G>A	c.(1129-1131)tcG>tcA	p.S377S		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	377	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CTACCACCTCGAACTTTGACA	0.657000														94			39		0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3628755	3628755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3628755C>T	uc002fwp.3	+	0	1559	c.1526C>T	c.(1525-1527)gCc>gTc	p.A509V	ITGAE_uc002fwo.4_Intron|ITGAE_uc002fwn.4_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	Homo sapiens germ cell associated 2 (haspin) (GSG2), mRNA.	509	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										ACACCCGTAGCCATAAAAATC	0.443000														33			32		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237993860	237993860	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:237993860G>A	uc001hyl.1	+	102	14806	c.14686G>A	c.(14686-14688)Gat>Aat	p.D4896N	RYR2_uc010pyb.1_Intron	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4896					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)			GATAGGCAATGATTACTTCGA	0.423000														147			18		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229772297	229772297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:229772297C>T	uc001hts.1	+	3	2073	c.1937C>T	c.(1936-1938)tCg>tTg	p.S646L	URB2_uc009xfd.1_Missense_Mutation_p.S646L	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	646						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AACCTCCCTTCGTTGCTCCCA	0.478000														255			79		0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44127496	44127496	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44127496C>T	uc002oxc.1	-	8	1202	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	Homo sapiens cell adhesion molecule 4 (CADM4), mRNA.	385					cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				ATGAAGAATTCCTCTTTCCTC	0.577000														105			44		0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99124001	99124001	+	Silent	SNP	C	T	T	rs148650223		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99124001C>T	uc003uqv.3	+	5	1462	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	ZKSCAN5_uc010lfx.3_Silent_p.I446I|ZKSCAN5_uc003uqw.3_Silent_p.I446I|ZKSCAN5_uc003uqx.3_Silent_p.I373I|ZKSCAN5_uc003uqy.3_Silent_p.I182I	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	446					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CGCATCTGATCGAACACCTAA	0.507000														232			91		0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43298724	43298724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:43298724G>A	uc003jnr.4	-	2	551	c.344C>T	c.(343-345)tCt>tTt	p.S115F	HMGCS1_uc003jnq.4_Missense_Mutation_p.S115F	NM_001098272	NP_002121	Q01581	HMCS1_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) (HMGCS1), transcript variant 1, mRNA.	115					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TGTATTCCCAGACTCTTCAAA	0.438000														104			42		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53227577	53227577	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53227577G>A	uc001sbb.3	-	0	501	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	156	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTTGTCGATGAAGGAGGCGA	0.607000														234			32		0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154139092	154139092	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:154139092T>A	uc003faa.3	-	2	1459	c.1359A>T	c.(1357-1359)aaA>aaT	p.K453N		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	453						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGATTTCTACTTTTATAGCAT	0.398000														203			53		0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2608837	2608837	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:2608837C>T	uc001lwn.3	+	8	1274	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	KCNQ1_uc009ydp.1_Missense_Mutation_p.S173F|KCNQ1_uc001lwo.3_Missense_Mutation_p.S262F	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	389					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	AACCCCGACTCCTCCACCTGG	0.642000														99			46		0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109740600	109740600	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:109740600G>A	uc021orb.1	+	17	2524	c.2303_splice	c.e17-1	p.G768_splice	KIAA1324_uc009wex.2_Splice_Site_p.G718_splice|KIAA1324_uc010ovg.2_Splice_Site_p.G666_splice|KIAA1324_uc009wey.3_Splice_Site_p.G681_splice|KIAA1324_uc001dwr.3_Splice_Site_p.G418_splice|KIAA1324_uc001dws.1_Intron|KIAA1324_uc009wez.1_Intron	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	768					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TAATTTGGCAGGGGTGACAAC	0.453000														63			26		0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676399	123676399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123676399G>A	uc010rzz.2	-	0	659	c.659C>T	c.(658-660)tCt>tTt	p.S220F		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I219L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CAGGATGGTAGAAATTATGTA	0.488000														28			12		0	0	1	0	0
MFSD2B	388931	broad.mit.edu	37	2	24245745	24245745	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:24245745G>A	uc002reo.2	+	9	1046	c.1032G>A	c.(1030-1032)ggG>ggA	p.G344G		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	344					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						AGCGCTTTGGGAAGAAGACGT	0.632000														18			4		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125856770	125856770	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:125856770G>A	uc003eim.1	-	9	1300	c.1110C>T	c.(1108-1110)ggC>ggT	p.G370G	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.G269G|ALDH1L1_uc003eio.3_Silent_p.G72G|ALDH1L1_uc010hsf.1_Silent_p.G396G	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	370	Acyl carrier.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.G370A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTAACTCCAGGCCATCACACA	0.567000														60			20		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22265871	22265871	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22265871C>T	uc010air.1	+	1	286	c.154C>T	c.(154-156)Ctc>Ttc	p.L52F	TRA_uc021rpa.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: SEB 172.																		AACTGTTAATCTCTTCTGGTA	0.493000														118			11		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74276934	74276934	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74276934C>T	uc002jrd.1	-	8	4046	c.3866G>A	c.(3865-3867)cGg>cAg	p.R1289Q	QRICH2_uc010dgw.1_Missense_Mutation_p.R133Q	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1289							protein binding	p.R1289Q(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTGTTTCTGCCGATGGTCCTC	0.622000														62			22		0	0	1	0	0
FAM86EP	348926	broad.mit.edu	37	4	3949503	3949503	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:3949503G>A	uc011bvu.2	-	4		c.832C>T			FAM86EP_uc003ghn.3_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member E, pseudogene (FAM86EP), non-coding RNA.																		GGACGGCAGAGAGCTGACAGA	0.607000														36			4		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394265	164394265	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:164394265C>T	uc003iqp.4	-	0	783	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	208						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAAAGGCTTCACAGCAATTC	0.517000														88			19		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600269	29600269	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29600269G>A	uc001usl.4	+	0	1522	c.1464G>A	c.(1462-1464)gaG>gaA	p.E488E		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	478						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTGTTGGAGAGAACAAGACGG	0.527000														52			17		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312324	48312324	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48312324C>T	uc003toq.2	+	16	3085	c.3061C>T	c.(3061-3063)Ctt>Ttt	p.L1021F	ABCA13_uc010kyr.2_Missense_Mutation_p.L524F|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1021					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCAGAGGTTCTTGGGGGAAT	0.343000														18			9		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163999	150163999	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150163999C>T	uc003whj.3	+	1	543	c.213C>T	c.(211-213)tcC>tcT	p.S71S		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	71						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)		ACCTTTTCTCCTCAATAGCTT	0.502000														140			68		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208835	58208835	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:58208835C>T	uc001vhq.1	+	0	3047	c.2155C>T	c.(2155-2157)Ctc>Ttc	p.L719F	PCDH17_uc010aec.1_Missense_Mutation_p.L719F	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	719					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTCCATCATCCTCCTAGCGGC	0.607000														68			19		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166152571	166152571	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166152571G>A	uc002udc.3	+	1	528	c.238G>A	c.(238-240)Gat>Aat	p.D80N	SCN2A_uc002udd.3_Missense_Mutation_p.D80N|SCN2A_uc002ude.3_Missense_Mutation_p.D80N	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	80					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCCCCTGGAGGATCTGGACCC	0.448000														64			14		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272394	52272394	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52272394C>T	uc002pxr.3	+	1	528	c.483C>T	c.(481-483)ttC>ttT	p.F161F	FPR2_uc002pxs.4_Silent_p.F161F|FPR2_uc010epf.3_Silent_p.F161F|FPR2_uc021uyp.1_Silent_p.F161F	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	161					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGCCAGTTTTCCTCTTTTTGA	0.517000														86			46		0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91404608	91404608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:91404608G>A	uc001dnw.3	-	2	2586	c.2303C>T	c.(2302-2304)tCa>tTa	p.S768L	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.S768L	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	768					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGAATTTAATGAACTAGCTTC	0.328000														78			49		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34164539	34164539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34164539C>T	uc001bxm.1	-	23	3916	c.3739G>A	c.(3739-3741)Gaa>Aaa	p.E1247K	CSMD2_uc001bxn.1_Missense_Mutation_p.E1207K|CSMD2_uc001bxo.1_Missense_Mutation_p.E120K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1207	Sushi 7.					integral to membrane|plasma membrane	protein binding	p.G1246S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTGATGAGTTCAAAGCCTGGT	0.512000														39			4		0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108127887	108127887	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:108127887C>T	uc004bcn.3	+	10	1598	c.1377C>T	c.(1375-1377)atC>atT	p.I459I	SLC44A1_uc004bco.1_Silent_p.I251I	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA.	459						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	CGCGAATGATCCTTATGTATA	0.408000														100			31		0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36623931	36623931	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:36623931G>A	uc002rpd.3	+	2	571	c.505_splice	c.e2+1	p.E169_splice		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	169					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGAATTGAAGGTAAGCATTAA	0.373000														96			22		0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33702229	33702229	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:33702229G>A	uc002num.2	-	6	1065	c.918C>T	c.(916-918)ttC>ttT	p.F306F	SLC7A10_uc002nul.2_Missense_Mutation_p.R45W	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	306					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GCTTCTCCCCGAAGGTCTGGG	0.622000														47			9		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74540379	74540379	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:74540379C>T	uc001dfy.4	-	5	1155	c.963G>A	c.(961-963)atG>atA	p.M321I	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	321										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTTGATTTCATGCCTAGAT	0.224000														13			8		0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50827018	50827018	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50827018G>A	uc002pru.1	-	1	1487	c.1192C>T	c.(1192-1194)Ctc>Ttc	p.L398F	KCNC3_uc002prt.1_Missense_Mutation_p.L34F	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	398					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		AGGCCCGAGAGGCCCACCTCG	0.597000														37			25		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965518	35965518	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35965518C>T	uc003jjv.2	-	3	1006	c.813G>A	c.(811-813)ttG>ttA	p.L271L	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.L271L|UGT3A1_uc011cor.2_Silent_p.L237L|UGT3A1_uc003jjy.2_Silent_p.L217L	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	271						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTTTTCCATCAAGCCTCCAA	0.448000														124			8		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398393	89398393	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89398393G>A	uc010upo.1	+	11	2951	c.2577G>A	c.(2575-2577)gaG>gaA	p.E859E	ACAN_uc010upp.1_Silent_p.E859E|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	859					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)			GCTCTGGGGAGGAATCTGGGG	0.607000														47			10		0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25141452	25141452	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:25141452G>A	uc010ykm.2	-	0	604	c.405C>T	c.(403-405)acC>acT	p.T135T	ADCY3_uc002rfs.4_Silent_p.T135T	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	135					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCACTCTGCGGGTGACCCGGT	0.627000														92			7		0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108499402	108499402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:108499402C>T	uc003psg.3	+	4	1354	c.599C>T	c.(598-600)gCt>gTt	p.A200V		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA.	200	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		ATCAAGTGGGCTAAGAGTGTG	0.527000														32			21		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476262	120476262	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:120476262C>T	uc004bjz.3	+	2	2147	c.1856C>T	c.(1855-1857)cCt>cTt	p.P619L	TLR4_uc004bkb.3_Missense_Mutation_p.P419L|TLR4_uc004bka.3_Missense_Mutation_p.P579L	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	619	LRRCT.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CAGGGCATGCCTGTGCTGAGT	0.468000														30			8		0	0	1	0	0
PRIMA1	145270	broad.mit.edu	37	14	94203587	94203587	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94203587C>T	uc001ybw.1	-	4	401	c.359_splice	c.e4+1	p.R120_splice	PRIMA1_uc001ybx.1_Splice_Site	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN	Homo sapiens proline rich membrane anchor 1 (PRIMA1), mRNA.	120					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GAGCACTCACCTTTTTATGGC	0.493000														42			16		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193002904	193002904	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:193002904C>T	uc011bsq.2	-	27	3024	c.3024_splice	c.e27-1	p.S1008_splice		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	1008					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGAAAACACTCACTACAAAAG	0.318000														54			15		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6511792	6511792	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6511792G>A	uc001amy.3	+	8	2213	c.2045G>A	c.(2044-2046)gGg>gAg	p.G682E	ESPN_uc001amz.3_Missense_Mutation_p.G116E	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	682	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGGCATCGGGCAGCCGGCC	0.682000														18			7		0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84237342	84237342	+	Silent	SNP	C	T	T	rs146975595		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:84237342C>T	uc002bjw.3	+	3	444	c.249C>T	c.(247-249)acC>acT	p.T83T	SH3GL3_uc010uot.1_Silent_p.T83T|SH3GL3_uc002bjx.3_Silent_p.T14T|SH3GL3_uc002bju.3_Silent_p.T91T|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	83	BAR.|Required for dimerization upon membrane association (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.S83L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AGGTGAAGACCACAGGATACC	0.468000														125			28		0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624553	123624553	+	Missense_Mutation	SNP	C	T	T	rs140203672	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123624553C>T	uc010rzy.2	-	0	674	c.674G>A	c.(673-675)cGa>cAa	p.R225Q		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAAGGAATTCGTAGGATTGC	0.473000														76			38		0	0	1	0	0
CIZ1	25792	broad.mit.edu	37	9	130952661	130952661	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130952661G>A	uc011mas.2	-	2	488	c.323C>T	c.(322-324)tCc>tTc	p.S108F	CIZ1_uc004btr.3_Missense_Mutation_p.S78F|CIZ1_uc004bts.3_Missense_Mutation_p.S78F|CIZ1_uc011maq.2_Missense_Mutation_p.S78F|CIZ1_uc004btu.3_Missense_Mutation_p.S78F|CIZ1_uc004btt.3_Missense_Mutation_p.S78F|CIZ1_uc011mar.2_Intron|CIZ1_uc004btw.3_Missense_Mutation_p.S78F|CIZ1_uc004btv.3_Missense_Mutation_p.S78F|CIZ1_uc004btx.2_Missense_Mutation_p.S78F	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.	78						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GTTGAGGAGGGAGGCTGAGTT	0.577000														20			8		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49687651	49687651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:49687651G>A	uc001jgu.3	-	3	776	c.479C>T	c.(478-480)cCt>cTt	p.P160L	ARHGAP22_uc001jgs.3_Intron|ARHGAP22_uc001jgt.3_Intron|ARHGAP22_uc010qgl.2_Intron|ARHGAP22_uc010qgm.2_Intron|ARHGAP22_uc001jgv.3_Intron|BC043540_uc001jgw.3_5'Flank	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	151	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGTTCTAGAGGGTGGGCATG	0.637000														19			8		0	0	1	0	0
TWSG1	57045	broad.mit.edu	37	18	9396289	9396289	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:9396289C>T	uc002knz.3	+	3	426	c.235C>T	c.(235-237)Cct>Tct	p.P79S	TWSG1_uc002koa.3_Missense_Mutation_p.P4S	NM_020648	NP_065699	Q9GZX9	TWSG1_HUMAN	Homo sapiens twisted gastrulation homolog 1 (Drosophila) (TWSG1), mRNA.	79										breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						TATGTGTAATCCTCGAAATTA	0.418000														53			16		0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49407996	49407996	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:49407996C>T	uc002efr.3	+	0	189	c.146C>T	c.(145-147)cCc>cTc	p.P49L		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	49										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AAACAAGCTCCCGAGGTGGGT	0.507000														62			18		0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30365431	30365431	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30365431C>T	uc002wwp.1	+	8	1570	c.872C>T	c.(871-873)cCt>cTt	p.P291L	TPX2_uc010gdv.1_Missense_Mutation_p.P291L	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	291					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CGAAAGCATCCTTCATCTCCT	0.363000														67			36		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791484	95791484	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95791484G>A	uc001kjk.3	+	1	1315	c.681G>A	c.(679-681)aaG>aaA	p.K227K	PLCE1_uc010qnx.2_Silent_p.K227K	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	227					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGAAGCAAAAGAAAAACTATG	0.388000														57			15		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21744103	21744103	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:21744103G>A	uc003svc.3	+	38	6377	c.6346G>A	c.(6346-6348)Gac>Aac	p.D2116N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2116					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGTGACTGACGACATCCCAGT	0.453000									Kartagener syndrome					19			11		0	0	1	0	0
POTEB	339010	broad.mit.edu	37	15	21051166	21051166	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:21051166G>A	uc010tzg.1	-	10	1661	c.1294C>T	c.(1294-1296)Cac>Tac	p.H432Y	POTEB_uc010tzf.1_Non-coding_Transcript	NM_207355	NP_997238	Q6S5H4	POTEB_HUMAN	Homo sapiens POTE ankyrin domain family, member B (POTEB), mRNA.	469										endometrium(2)|kidney(8)|lung(4)	14						GCTTACCTGTGATACTCTTCA	0.368000														65			5		0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107380046	107380046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107380046C>T	uc011lvr.2	-	0	440	c.440G>A	c.(439-441)gGg>gAg	p.G147E		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G147G(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						AAACCAGGACCCAACAGCCAT	0.453000														91			51		0	0	1	0	0
CSTF1	1477	broad.mit.edu	37	20	54978716	54978716	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:54978716C>T	uc002xxl.1	+	5	1429	c.1229C>T	c.(1228-1230)cCc>cTc	p.P410L	CSTF1_uc002xxm.1_Missense_Mutation_p.P410L|CSTF1_uc002xxn.1_Missense_Mutation_p.P410L	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.	410					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			CCCACCAACCCCGGGTTCATG	0.577000														98			30		0	0	1	0	0
FIGF	2277	broad.mit.edu	37	X	15376196	15376196	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:15376196G>A	uc004cwt.2	-	2	888	c.421C>T	c.(421-423)Cga>Tga	p.R141*	FIGF_uc022bth.1_Non-coding_Transcript	NM_004469	NP_004460	O43915	VEGFD_HUMAN	Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.	141					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					CCACCACATCGGAACACGTTC	0.517000														70			76		0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17280797	17280797	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17280797C>T	uc001azt.2	+	21	3335	c.3266C>T	c.(3265-3267)tCc>tTc	p.S1089F	CROCC_uc009voz.1_Missense_Mutation_p.S688F|CROCC_uc001azu.2_Missense_Mutation_p.S392F	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	1089					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCCACCATCTCCCTGGAGATG	0.627000														97			37		0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392827	178392827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178392827G>A	uc003mjo.2	+	4	1723	c.1422G>A	c.(1420-1422)gaG>gaA	p.E474E	ZNF454_uc010jkz.2_Silent_p.E474E|ZNF454_uc021yjc.1_Silent_p.E474E	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C473S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AAATCTGTGAGAAAGCCTTTA	0.383000														84			48		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48414342	48414342	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48414342G>A	uc001jfa.1	-	1	686	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	176					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTTCCATCCAGAACATCATAA	0.522000														43			16		0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85525463	85525463	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:85525463C>T	uc011ccv.2	+	1	683	c.185C>T	c.(184-186)cCa>cTa	p.P62L		NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	62					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CCGGAAATTCCACCATCCTCA	0.343000														76			38		0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205038639	205038639	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205038639G>A	uc001hbr.3	+	16	2415	c.2146G>A	c.(2146-2148)Gga>Aga	p.G716R	CNTN2_uc001hbq.1_Missense_Mutation_p.G607R|CNTN2_uc001hbs.3_Missense_Mutation_p.G504R	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	716	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGCACCCTCAGGACTCAGCGG	0.597000														31			10		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215928826	215928826	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:215928826G>A	uc002vew.3	-	2	500	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	94					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCTTTCCTACGAAGCAGATCT	0.433000														139			45		0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205273195	205273195	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205273195C>T	uc001hce.3	-	6	1397	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	424					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGAGGGTCCTCCTGTACCCCT	0.627000														82			27		0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41476499	41476499	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:41476499G>A	uc010ucv.2	-	11	1621	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L	EXD1_uc001znj.3_Missense_Mutation_p.P190L|EXD1_uc001znk.3_Missense_Mutation_p.P392L	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	392					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TAGATGTTGAGGATTTGTAGC	0.393000														205			19		0	0	1	0	0
SNX8	29886	broad.mit.edu	37	7	2302930	2302930	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:2302930G>A	uc003slw.3	-	6	893	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	Homo sapiens sorting nexin 8 (SNX8), mRNA.	284					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GCCTGCTTCAGGGACCCCCAC	0.617000														34			9		0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56712110	56712110	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56712110G>A	uc001skx.3	-	24	3862	c.3485C>T	c.(3484-3486)tCt>tTt	p.S1162F	CNPY2_uc001sku.2_5'Flank|CNPY2_uc001skv.3_5'Flank|PAN2_uc001skw.3_Missense_Mutation_p.S310F|PAN2_uc001sky.3_Missense_Mutation_p.S1158F|PAN2_uc001skz.3_Missense_Mutation_p.S1161F	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	1162					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTTGTGGAAAGACTCAGGCTC	0.512000														132			33		0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97058463	97058463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:97058463G>A	uc003pos.2	+	5	936	c.520G>A	c.(520-522)Ggg>Agg	p.G174R	FHL5_uc003pot.2_Missense_Mutation_p.G174R	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	174	LIM zinc-binding 3.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AACTTCAGGTGGGATAACATT	0.413000														103			64		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10534239	10534239	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:10534239C>T	uc002czw.3	+	4	1273	c.1114C>T	c.(1114-1116)Caa>Taa	p.Q372*	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Nonsense_Mutation_p.Q372*|ATF7IP2_uc002czv.3_Nonsense_Mutation_p.Q372*|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AGCAAAACTTCAAAGACGTAT	0.299000														32			4		0	0	1	0	0
IL18BP	10068	broad.mit.edu	37	11	71711488	71711488	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:71711488C>T	uc001orh.2	+	1	1042	c.120C>T	c.(118-120)gcC>gcT	p.A40A	IL18BP_uc001orf.1_Silent_p.A40A|IL18BP_uc021qmv.1_Silent_p.A40A|IL18BP_uc001ore.1_Silent_p.A40A|IL18BP_uc001org.1_Silent_p.A40A|IL18BP_uc001ori.2_Silent_p.A40A|IL18BP_uc009ysv.1_Silent_p.A40A	NM_005699	NP_005690	O95998	I18BP_HUMAN	Homo sapiens interleukin 18 binding protein (IL18BP), transcript variant C, mRNA.	40					T-helper 1 type immune response	extracellular region	interleukin-18 binding|receptor antagonist activity	p.A40A(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CCACAGCTGCCACTGCCTCAG	0.607000														101			35		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116889168	116889168	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:116889168G>A	uc001lcg.3	+	4	1086	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	ATRNL1_uc001lce.3_Non-coding_Transcript|ATRNL1_uc001lcf.3_Missense_Mutation_p.E234K	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	234	EGF-like 2.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGTATATTGTGAATGTGATAA	0.383000														93			13		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960961	51960961	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51960961C>T	uc002pwt.3	-	1	554	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	163	Ig-like C2-type 1.				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)		TCTAGGGTCCCTAGGATGAGG	0.602000														71			29		0	0	1	0	0
APOC4	346	broad.mit.edu	37	19	45448094	45448094	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45448094G>A	uc002pah.3	+	1		c.205G>A				NM_001646		P55056	APOC4_HUMAN	Homo sapiens apolipoprotein C-IV (APOC4), mRNA.						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		GCAGGATGAAGGAGCTGCTGG	0.622000														6			10		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15661511	15661511	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:15661511C>T	uc001rcv.2	+	6	1744	c.1274C>T	c.(1273-1275)tCa>tTa	p.S425L	PTPRO_uc001rcw.2_Missense_Mutation_p.S425L|PTPRO_uc001rcu.2_Missense_Mutation_p.S425L	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	425						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCAGGTCCTTCAGGAGAGTGG	0.458000														24			4		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982196	7982196	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7982196C>T	uc001mfv.1	-	1	980	c.963G>A	c.(961-963)gcG>gcA	p.A321A		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	321	NACHT.						ATP binding	p.A321A(2)|p.R320M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAAGTACCTCGCCCTCTCCT	0.512000														93			40		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170062006	170062006	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170062006G>A	uc002ues.3	-	40	7911	c.7698C>T	c.(7696-7698)taC>taT	p.Y2566Y		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2566					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATCCACCCAGTAGAGAAGGT	0.483000														95			20		0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17886947	17886947	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17886947C>T	uc002nhg.3	+	15	1438	c.1159C>T	c.(1159-1161)Ctc>Ttc	p.L387F	FCHO1_uc010ebb.2_Missense_Mutation_p.L387F|FCHO1_uc002nhh.2_Missense_Mutation_p.L387F|FCHO1_uc010xpw.1_Missense_Mutation_p.L337F	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	387										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CGCGGGCAGCCTCATCCTTCC	0.672000														142			10		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123428651	123428651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:123428651G>A	uc003ego.3	-	13	2176	c.1894C>T	c.(1894-1896)Ctc>Ttc	p.L632F	MYLK_uc011bjw.2_Missense_Mutation_p.L632F|MYLK_uc003egp.3_Missense_Mutation_p.L563F|MYLK_uc003egq.3_Missense_Mutation_p.L632F|MYLK_uc003egr.3_Missense_Mutation_p.L563F|MYLK_uc003egs.3_Missense_Mutation_p.L456F	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	632	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATGACTTTGAGATCAGAGAGG	0.512000														360			78		0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114680293	114680293	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:114680293G>A	uc021osa.1	-	2	973	c.895C>T	c.(895-897)Cac>Tac	p.H299Y	SYT6_uc021orz.1_Missense_Mutation_p.H214Y|SYT6_uc001eev.3_Missense_Mutation_p.H214Y	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	299	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGGGAAGTGGAAGTTCTCA	0.557000														57			28		0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46627726	46627726	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:46627726G>A	uc002inn.3	-	1	1666	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	HOXB3_uc010wlm.2_Silent_p.I349I|HOXB3_uc010dbf.3_Silent_p.I422I|HOXB3_uc010dbg.3_Silent_p.I422I|HOXB3_uc002ino.3_Silent_p.I422I|HOXB3_uc010wlk.2_Silent_p.I290I|HOXB3_uc010wll.2_Silent_p.I349I	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	422					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GCGCTTCTTGGATTCTACCCT	0.617000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			13		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45444226	45444226	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45444226G>A	uc001zus.1	+	24	3515	c.3169G>A	c.(3169-3171)Ggg>Agg	p.G1057R	DUOX1_uc001zut.1_Missense_Mutation_p.G1057R|DUOX1_uc010bee.1_Missense_Mutation_p.G437R|DUOX1_uc001zuu.3_Missense_Mutation_p.G199R	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	1057	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CATCGCTGGGGGGCTTTTCCT	0.602000														29			9		0	0	1	0	0
CPEB3	22849	broad.mit.edu	37	10	93902868	93902868	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:93902868G>A	uc001khw.2	-	5	1575	c.1371C>T	c.(1369-1371)atC>atT	p.I457I	CPEB3_uc001khu.2_Silent_p.I466I|CPEB3_uc001khv.2_Silent_p.I443I|CPEB3_uc010qnn.2_Silent_p.I443I	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	457	RRM 1.						RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				AGCTGGCAGTGATCTCATCTA	0.358000														35			14		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124988220	124988220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:124988220C>T	uc003yqw.3	+	8	972	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	256	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGAAGGGTTGCCCAAAATGAA	0.498000														176			47		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835304	38835304	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38835304G>A	uc003ciq.3	-	0	198	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	66					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCTCACCATAGAACTTGGGCA	0.542000														120			52		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80633209	80633209	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:80633209G>A	uc001szd.3	+	9	1021	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTGTGTTAATGATCTTTGCAA	0.353000														73			23		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6096664	6096664	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:6096664G>A	uc002wmr.3	-	2	968	c.179C>T	c.(178-180)gCt>gTt	p.A60V	FERMT1_uc010gbt.3_5'UTR|FERMT1_uc002wms.3_Missense_Mutation_p.A60V	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	60					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CCACCAAAGAGCAAAGTCTGA	0.493000														37			15		0	0	1	0	0
NANOS3	342977	broad.mit.edu	37	19	13988354	13988354	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:13988354G>A	uc002mxj.4	+	0	292	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	Homo sapiens nanos homolog 3 (Drosophila) (NANOS3), mRNA.	79					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	p.E98K(2)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GCTGAAGGACGAGGCTGGCAG	0.662000														36			10		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525760	176525760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176525760G>A	uc001gkz.3	+	1	1466	c.302G>A	c.(301-303)gGa>gAa	p.G101E	PAPPA2_uc001gky.1_Missense_Mutation_p.G101E|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	101					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G101E(3)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GACACTGAAGGAAATGCTGTG	0.567000														159			70		0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129641745	129641745	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:129641745C>T	uc022bnn.1	+	0	55	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	ZBTB34_uc004bqm.4_Silent_p.L19L	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CAGCACCGTTCTGAGCCAGCT	0.507000														97			30		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208798	140208798	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140208798G>A	uc003lho.2	+	0	1149	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Silent_p.V374V|PCDHAC2_uc011dab.2_Silent_p.V374V	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	389	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)			TAATTAGCGTGAACGACCTCG	0.498000														160			60		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75886311	75886311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:75886311C>T	uc003kek.3	+	7	941	c.719C>T	c.(718-720)cCa>cTa	p.P240L		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	240					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CTAAGAAACCCAAATGCGGTT	0.378000														57			38		0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30503006	30503006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:30503006C>T	uc002hgw.3	+	4	487	c.248C>T	c.(247-249)gCc>gTc	p.A83V	RHOT1_uc002hgy.3_Missense_Mutation_p.A83V|RHOT1_uc002hgz.3_Missense_Mutation_p.A83V|RHOT1_uc002hha.3_5'UTR|RHOT1_uc010csv.3_Non-coding_Transcript|RHOT1_uc002hgx.3_5'UTR|RHOT1_uc010wby.2_Missense_Mutation_p.A83V|RHOT1_uc002hhb.3_Missense_Mutation_p.A62V|RHOT1_uc002hgv.3_Missense_Mutation_p.A83V	NM_001033568	NP_001028740	Q8IXI2	MIRO1_HUMAN	Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA.	83	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				ATAGTGTATGCCGTTAACAAC	0.308000														25			7		0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55368262	55368262	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55368262G>A	uc010spd.1	-	1	218	c.85C>T	c.(85-87)Cta>Tta	p.L29L	TESPA1_uc001sgl.3_5'Flank|TESPA1_uc001sgm.3_5'Flank|TESPA1_uc010spb.1_5'Flank|TESPA1_uc010spc.1_5'Flank|TESPA1_uc001sgn.3_Silent_p.L29L	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	29																	TCCTCTTCTAGGACCTGGGTC	0.612000														11			6		0	0	1	0	0
SETMAR	6419	broad.mit.edu	37	3	4354988	4354988	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:4354988C>T	uc011asp.2	+	1	630	c.563C>T	c.(562-564)tCc>tTc	p.S188F	SUMF1_uc003bps.2_Intron|SETMAR_uc003bpw.4_Missense_Mutation_p.S175F|SETMAR_uc011asq.2_Intron|SETMAR_uc003bpy.4_Intron|SETMAR_uc011asr.2_Intron|SETMAR_uc010hbx.3_5'UTR	NM_006515	NP_006506	Q53H47	SETMR_HUMAN	Homo sapiens SET domain and mariner transposase fusion gene (SETMAR), transcript variant 1, mRNA.	175	Histone-lysine N-methyltransferase.|SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		CAAACAAAATCCGACTCCAAT	0.363000								Chromatin Structure						71			26		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71744131	71744131	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71744131C>T	uc010fen.3	+	9	1105	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C	DYSF_uc010fei.3_Missense_Mutation_p.R321C|DYSF_uc010feh.3_Missense_Mutation_p.R290C|DYSF_uc002sig.4_Missense_Mutation_p.R290C|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R321C|DYSF_uc010fee.3_Missense_Mutation_p.R290C|DYSF_uc010fef.3_Missense_Mutation_p.R321C|DYSF_uc002sie.3_Missense_Mutation_p.R290C|DYSF_uc010feo.3_Missense_Mutation_p.R322C|DYSF_uc010fej.3_Missense_Mutation_p.R291C|DYSF_uc010fel.3_Missense_Mutation_p.R291C|DYSF_uc010fem.3_Missense_Mutation_p.R291C|DYSF_uc002sif.3_Missense_Mutation_p.R291C|DYSF_uc010fek.3_Missense_Mutation_p.R322C	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	290						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGTAGACTCTCGTTCTCTCAG	0.498000														102			29		0	0	1	0	0
SEPT5	5413	broad.mit.edu	37	22	19707966	19707966	+	Silent	SNP	C	T	T	rs148378941		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:19707966C>T	uc002zpv.2	+	5	611	c.486C>T	c.(484-486)ccC>ccT	p.P162P	SEPT5_uc002zpw.1_Silent_p.P171P|SEPT5_uc002zpx.1_Non-coding_Transcript|GP1BB_uc002zpz.2_5'UTR	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	Homo sapiens septin 5 (SEPT5), transcript variant 1, mRNA.	162					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TCATCTCCCCCTTCGGGCATG	0.597000														59			22		0	0	1	0	0
SENP8	123228	broad.mit.edu	37	15	72432292	72432292	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72432292C>T	uc021spq.1	+	1	661	c.328C>T	c.(328-330)Caa>Taa	p.Q110*	SENP8_uc021spr.1_Nonsense_Mutation_p.Q110*|SENP8_uc021sps.1_Nonsense_Mutation_p.Q110*|SENP8_uc021spt.1_Nonsense_Mutation_p.Q110*|SENP8_uc002atp.3_Nonsense_Mutation_p.Q110*|SENP8_uc021spu.1_Nonsense_Mutation_p.Q110*	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN	Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.	110	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						GGTCTACCTCCAAGATAAAAA	0.443000														99			23		0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800537	21800537	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:21800537C>T	uc002zur.4	+	2	1583	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	HIC2_uc002zus.4_Silent_p.F451F	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	451					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CCAAGGGCTTCCCCAGCTCTG	0.622000														96			47		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243414	56243414	+	Missense_Mutation	SNP	G	A	A	rs143466064		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56243414G>A	uc002qly.3	-	1	1811	c.1783C>T	c.(1783-1785)Cgc>Tgc	p.R595C		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	595						cytoplasm	ATP binding	p.R595H(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ACACACATGCGAAGTGTCGTT	0.393000														63			15		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	410451	410451	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:410451G>A	uc001ifp.3	-	19	2430	c.2340C>T	c.(2338-2340)ttC>ttT	p.F780F	DIP2C_uc009xhi.1_Silent_p.F166F|DIP2C_uc010pzz.1_Silent_p.F101F	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	780						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGGGACCCACGAACCCCAGCA	0.617000														65			19		0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123200699	123200699	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:123200699C>T	uc001ucy.4	-	0	741	c.586G>A	c.(586-588)Gag>Aag	p.E196K	HCAR1_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	196						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	AGGAAGAACTCCAGGAGGAAC	0.532000														78			22		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176696688	176696688	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176696688C>T	uc003mfr.4	+	15	5527	c.5389C>T	c.(5389-5391)Ctc>Ttc	p.L1797F	NSD1_uc003mft.4_Missense_Mutation_p.L1528F|NSD1_uc003mfs.1_Missense_Mutation_p.L1694F|NSD1_uc011dfx.2_Missense_Mutation_p.L1445F	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1797	PWWP 2.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTTCCCAGTCCTCTTTTTTGG	0.498000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				78			28		0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118969929	118969929	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:118969929C>T	uc003ksm.2	+	2	696	c.486C>T	c.(484-486)acC>acT	p.T162T	FAM170A_uc003ksl.2_Silent_p.T162T|FAM170A_uc003ksn.3_Silent_p.T162T|FAM170A_uc003kso.3_Silent_p.T115T	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	162						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						AAGAAGTGACCCTTTCTGAGG	0.517000														98			34		0	0	1	0	0
OLR1	4973	broad.mit.edu	37	12	10312586	10312586	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10312586G>A	uc001qxo.1	-	5	829	c.715C>T	c.(715-717)Cct>Tct	p.P239S	OLR1_uc010sgz.1_3'UTR|OLR1_uc021qvb.1_3'UTR|OLR1_uc010sha.1_3'UTR	NM_002543	NP_002534	P78380	OLR1_HUMAN	Homo sapiens oxidized low density lipoprotein (lectin-like) receptor 1 (OLR1), transcript variant 1, mRNA.	239	C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GTACCTGAAGGGTATGTCTGG	0.428000														135			35		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55939046	55939046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55939046C>T	uc003pcs.3	-	19	2181	c.1949G>A	c.(1948-1950)gGa>gAa	p.G650E	COL21A1_uc010jzz.3_Missense_Mutation_p.G35E|COL21A1_uc011dxg.2_Missense_Mutation_p.G35E|COL21A1_uc011dxh.2_Missense_Mutation_p.G35E|COL21A1_uc003pcr.3_Missense_Mutation_p.E8K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	650	Collagen-like 3.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCCGGTGTTCCAGGCTGGCC	0.323000														105			34		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73905021	73905021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:73905021G>A	uc011dyh.2	+	14	3087	c.2740G>A	c.(2740-2742)Gaa>Aaa	p.E914K	KCNQ5_uc011dyi.2_Missense_Mutation_p.E905K|KCNQ5_uc010kat.3_Missense_Mutation_p.E886K|KCNQ5_uc003pgk.3_Missense_Mutation_p.E895K|KCNQ5_uc011dyj.2_Missense_Mutation_p.E785K|KCNQ5_uc011dyk.2_Missense_Mutation_p.E645K	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	895					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GCCTGCCAGGGAAGCTGCCTT	0.507000														140			11		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933065	43933065	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43933065C>T	uc002xnn.2	-	2	633	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	MATN4_uc002xnp.2_Missense_Mutation_p.R149Q|MATN4_uc002xno.2_Missense_Mutation_p.R149Q|MATN4_uc010zwr.1_Missense_Mutation_p.R97Q|MATN4_uc002xnr.1_Missense_Mutation_p.R149Q|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	149	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GTCCTGGGGCCGCCCGTCTGT	0.721000														12			3		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616397	92616397	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92616397G>A	uc001pdj.4	+	22	12792	c.12775G>A	c.(12775-12777)Gag>Aag	p.E4259K	FAT3_uc001pdi.4_Missense_Mutation_p.E699K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4259					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.E4259K(2)|p.E834K(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTGGGAGGCGAGCACCAGGA	0.682000										TCGA Ovarian(4;0.039)				161			50		0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51330320	51330320	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51330320C>T	uc002ptl.3	-	2	326	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	KLK15_uc002ptm.3_Missense_Mutation_p.E99K|KLK15_uc002ptn.3_Missense_Mutation_p.E99K|KLK15_uc002pto.3_Missense_Mutation_p.E98K|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.E98K|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	99	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.Y98Y(2)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CTGCGCGCTTCGTAGCGCGGG	0.667000														73			21		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33998705	33998705	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:33998705C>T	uc001bxm.1	-	63	10293	c.10116G>A	c.(10114-10116)gaG>gaA	p.E3372E	CSMD2_uc001bxn.1_Silent_p.E3228E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3228						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGTGCGGTGCTCGGAGCCAC	0.662000														22			17		0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138745818	138745818	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:138745818G>T	uc003vun.3	-	8	2448	c.2060C>A	c.(2059-2061)cCt>cAt	p.P687H	ZC3HAV1_uc003vuo.3_Missense_Mutation_p.P148H|ZC3HAV1_uc003vup.3_Missense_Mutation_p.P687H	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	687					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATACCACTGAGGCACAAATGT	0.433000														172			19		1.96292e-10	1.96986e-10	1	1	0
SHROOM1	134549	broad.mit.edu	37	5	132158506	132158506	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:132158506G>A	uc003kxx.3	-	9	3346	c.2541C>T	c.(2539-2541)ttC>ttT	p.F847F	SHROOM1_uc003kxy.2_Silent_p.F842F	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	847					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAGAAGAGGGAAGGGCGGCT	0.607000														17			8		0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170244629	170244629	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:170244629C>T	uc003fgz.2	-	1	413	c.97G>A	c.(97-99)Gag>Aag	p.E33K	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	33						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGCATGGACTCCACTGGTTTG	0.592000														29			4		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678234	100678234	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100678234C>T	uc003uxp.1	+	2	3590	c.3537C>T	c.(3535-3537)acC>acT	p.T1179T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1179	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGCTAACACCCTTTCAACAA	0.522000														479			110		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118343602	118343602	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118343602C>T	uc001pta.3	+	2	1751	c.1728C>T	c.(1726-1728)tcC>tcT	p.S576S	MLL_uc001ptb.3_Silent_p.S576S|MLL_uc001psz.1_Silent_p.S609S|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	576					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AGCCAGCCTCCAGTATCTCTG	0.532000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									84			38		0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77984429	77984429	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:77984429G>A	uc002jxj.3	-	2	425	c.309C>T	c.(307-309)tcC>tcT	p.S103S		NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.	103						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TGCGAACGGGGGAGCTCTCGG	0.701000														21			6		0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113704124	113704124	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113704124G>A	uc011lwo.2	-	1	375	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	LPAR1_uc004bfa.3_Missense_Mutation_p.R124C|LPAR1_uc011lwm.2_Missense_Mutation_p.R125C|LPAR1_uc004bfc.3_Missense_Mutation_p.R124C|LPAR1_uc011lwn.2_Missense_Mutation_p.R106C|LPAR1_uc004bfb.3_Missense_Mutation_p.R124C|LPAR1_uc010mub.3_Missense_Mutation_p.R124C	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	124					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		p.R124H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AGGCCCTGACGAAGGAGCCAT	0.527000														109			36		0	0	1	0	0
FOXC2	2303	broad.mit.edu	37	16	86601587	86601587	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:86601587G>A	uc002fjq.3	+	0	731	c.646G>A	c.(646-648)Gag>Aag	p.E216K		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA.	216					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA 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 factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GATCAAGAGCGAGGCGGCGTC	0.756000									Late-onset Hereditary Lymphedema					12			8		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102316	168102316	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:168102316G>A	uc002udx.3	+	8	4503	c.4414G>A	c.(4414-4416)Gaa>Aaa	p.E1472K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E1297K|XIRP2_uc010fpq.3_Missense_Mutation_p.E1250K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1297					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTAGAATATGAAAATATCAA	0.378000														85			31		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468962	56468962	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:56468962G>A	uc021wzo.1	-	0	214	c.74C>T	c.(73-75)cCt>cTt	p.P25L	ERC2_uc003dhr.1_Missense_Mutation_p.P25L	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	25						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCCCAAACGAGGAGACCTTGG	0.488000														52			19		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107858195	107858195	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:107858195G>A	uc022ccg.1	+	29	2652	c.2450G>A	c.(2449-2451)gGa>gAa	p.G817E	COL4A5_uc004enz.1_Missense_Mutation_p.G817E|COL4A5_uc004eob.1_Missense_Mutation_p.G425E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	817	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGGCTGCCAGGAATAGGTGTT	0.438000									Alport syndrome with Diffuse Leiomyomatosis					14			24		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1444083	1444083	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:1444083G>A	uc003boz.3	+	21	3166	c.2899G>A	c.(2899-2901)Gaa>Aaa	p.E967K	CNTN6_uc011asj.2_Missense_Mutation_p.E895K|CNTN6_uc003bpa.3_Missense_Mutation_p.E967K	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	967	Fibronectin type-III 4.				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)		GGTTCCATTTGAAGAAGACTA	0.368000														73			16		0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86049712	86049712	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:86049712C>T	uc003ycw.3	+	14	2551	c.2343C>T	c.(2341-2343)gcC>gcT	p.A781A	LRRCC1_uc022awx.1_Silent_p.A688A|LRRCC1_uc010maa.2_Silent_p.A482A|LRRCC1_uc003ycy.3_Silent_p.A761A	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	781					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CTTCTCTAGCCCAAAATCGTG	0.318000														74			18		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4153809	4153809	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:4153809G>A	uc003smx.3	+	24	3865	c.3726G>A	c.(3724-3726)ctG>ctA	p.L1242L	SDK1_uc010kso.3_Silent_p.L518L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1242	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCGAGGAGCTGGAGGAGTGGA	0.632000														32			13		0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247151348	247151348	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247151348G>A	uc009xgu.3	-	3	654	c.469C>T	c.(469-471)Caa>Taa	p.Q157*	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	157					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTATTGCATTGAAAGTTTTTG	0.358000														226			52		0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35025869	35025869	+	Splice_Site	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35025869T>C	uc003jjf.3	-	9	1206	c.963_splice	c.e9+1	p.E321_splice	AGXT2_uc003jje.1_Splice_Site|AGXT2_uc011com.2_Splice_Site_p.E321_splice	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	321					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.E321G(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GCCACTTACTTCATCTGCAAT	0.512000														45			15		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419851	130419851	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:130419851G>A	uc004ewe.4	-	3	552	c.269C>T	c.(268-270)tCa>tTa	p.S90L	IGSF1_uc004ewd.3_Missense_Mutation_p.S90L|IGSF1_uc022cdv.1_Missense_Mutation_p.S81L|IGSF1_uc004ewf.2_Missense_Mutation_p.S70L|IGSF1_uc022cdw.1_Missense_Mutation_p.S90L|IGSF1_uc004ewg.3_Missense_Mutation_p.S90L	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	90	Ig-like C2-type 1.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TATAAGGAATGAAACTTGGAA	0.512000														52			55		0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41032495	41032495	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41032495C>T	uc021wjj.1	+	0	9	c.9C>T	c.(7-9)ttC>ttT	p.F3F	B3GALT5_uc002yyb.1_Silent_p.F3F|B3GALT5_uc002yye.2_Silent_p.F3F|B3GALT5_uc002yyi.1_Silent_p.F3F|B3GALT5_uc002yyj.1_Silent_p.F3F|B3GALT5_uc002yyk.1_Silent_p.F3F|B3GALT5_uc002yyl.1_Silent_p.F3F|B3GALT5_uc002yym.1_Silent_p.F3F	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA.	3					protein glycosylation	Golgi membrane|endoplasmic reticulum|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				AGATGGCTTTCCCGAAGATGA	0.423000														154			34		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209165796	209165796	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:209165796C>T	uc002vcz.3	+	8	1344	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	PIKFYVE_uc010fun.1_Nonsense_Mutation_p.R77*|PIKFYVE_uc002vcy.1_Nonsense_Mutation_p.R396*|PIKFYVE_uc002vcw.3_Nonsense_Mutation_p.R396*|PIKFYVE_uc002vcv.3_Nonsense_Mutation_p.R299*|PIKFYVE_uc002vcx.3_Nonsense_Mutation_p.R310*	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	396	DEP.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.R396*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CTGGCTAATCCGAAATGGGCA	0.388000														63			15		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200514	155200514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:155200514C>T	uc021xge.1	-	22	3602	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.E1071K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1109					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTACCCTTTTCCTTGATTTTC	0.468000														100			53		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8609249	8609249	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8609249C>T	uc002mkg.3	-	13	1594	c.1456G>A	c.(1456-1458)Gct>Act	p.A486T		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	486	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTCCCCACAGCCGCCTGCAGC	0.672000														28			13		0	0	1	0	0
CSRP3	8048	broad.mit.edu	37	11	19207763	19207763	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:19207763C>T	uc001mpk.2	-	4	531	c.414_splice	c.e4+1	p.K138_splice		NM_003476	NP_003467	P50461	CSRP3_HUMAN	Homo sapiens cysteine and glycine-rich protein 3 (cardiac LIM protein) (CSRP3), transcript variant 1, mRNA.	138	LIM zinc-binding 2.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						AAGGTCTTACCTTGCCACCTC	0.498000														83			21		0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71942074	71942074	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:71942074C>T	uc001osf.3	+	11	1485	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	INPPL1_uc001osg.3_Silent_p.F204F	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	446					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CATCCTGGTTCACATCGAAGG	0.587000														155			40		0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43171060	43171060	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:43171060G>A	uc003xpz.1	+	6	974	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	POTEA_uc003xqa.1_Missense_Mutation_p.E265K	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	311										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GACATCAGAGGAAGAGCCACA	0.284000														53			17		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86200608	86200608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:86200608G>A	uc001dlj.3	-	58	4897	c.4822C>T	c.(4822-4824)Cat>Tat	p.H1608Y	COL24A1_uc001dli.3_Missense_Mutation_p.H723Y|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.H908Y|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1608	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTCAGTAAATGAAGGAAGTTC	0.428000														75			10		0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137230282	137230282	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:137230282C>T	uc003lby.3	+	3	564	c.508C>T	c.(508-510)Ctt>Ttt	p.L170F	PKD2L2_uc010jep.1_Missense_Mutation_p.L110F|PKD2L2_uc003lbw.1_Missense_Mutation_p.L170F|PKD2L2_uc003lbx.3_Missense_Mutation_p.L170F	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	170						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TAATTTTGGCCTTCAAATTAA	0.333000														33			15		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11728976	11728976	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:11728976G>A	uc002rbk.1	+	9	1564	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	GREB1_uc002rbn.1_Missense_Mutation_p.E422K|GREB1_uc002rbo.1_Missense_Mutation_p.E56K	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	422						integral to membrane		p.E422K(3)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACGGGCATACGAGCAGTACGG	0.587000														88			43		0	0	1	0	0
PABPC1P2	728773	broad.mit.edu	37	2	147345718	147345718	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:147345718G>A	uc002twf.4	+	0	1094	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K						Homo sapiens poly(A) binding protein, cytoplasmic 1 pseudogene 2 (PABPC1P2), non-coding RNA.																		TGTAAGCTTTGAAAGGCATGA	0.408000														16			5		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95947900	95947900	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:95947900G>A	uc002suk.3	+	13	1787	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K	PROM2_uc002suh.2_Missense_Mutation_p.E552K|PROM2_uc002sui.3_Missense_Mutation_p.E552K|PROM2_uc002suj.3_Missense_Mutation_p.E206K|PROM2_uc002sul.3_Missense_Mutation_p.E78K|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	552						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCAGTGCAAGGAAGGGGCAGC	0.612000														24			9		0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102626047	102626047	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:102626047C>T	uc002tbm.3	+	2	320	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	IL1R2_uc002tbn.3_Missense_Mutation_p.R31C|IL1R2_uc002tbo.1_Missense_Mutation_p.R31C	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	31	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	p.F30I(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CTGCCGGTTTCGTGGGAGGCA	0.612000														143			53		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873207	55873207	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55873207C>T	uc010riy.2	+	0	689	c.689C>T	c.(688-690)tCc>tTc	p.S230F		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AAAATTAATTCCACTTCAGGA	0.373000										HNSCC(53;0.14)				91			41		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29044228	29044228	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29044228C>T	uc002kws.3	+	8	1263	c.1154C>T	c.(1153-1155)cCt>cTt	p.P385L		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	385					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCATTCCGTCCTGCTTCCAAG	0.393000														70			20		0	0	1	0	0
TMEM156	80008	broad.mit.edu	37	4	39000451	39000451	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:39000451G>A	uc003gto.3	-	1	275	c.167C>T	c.(166-168)tCt>tTt	p.S56F	TMEM156_uc010ifj.3_Missense_Mutation_p.S56F	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	56						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AGTCACAAAAGAAAAATTTAA	0.353000														32			17		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51864298	51864298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51864298C>T	uc001rys.1	+	12	1825	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	SLC4A8_uc010sni.2_Silent_p.F496F|SLC4A8_uc001rym.3_Silent_p.F496F|SLC4A8_uc001ryn.3_Silent_p.F496F|SLC4A8_uc001ryo.2_Silent_p.F496F|SLC4A8_uc010snj.2_Silent_p.F576F|SLC4A8_uc001ryq.4_Silent_p.F549F|SLC4A8_uc001ryr.3_Silent_p.F549F|SLC4A8_uc010snk.2_Silent_p.F496F	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	549					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGATTTTGTTCAAATTCTGCA	0.418000														129			30		0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47260154	47260154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:47260154C>T	uc001vbk.3	+	4	1036	c.800C>T	c.(799-801)cCt>cTt	p.P267L	LRCH1_uc010acp.2_Missense_Mutation_p.P267L|LRCH1_uc001vbj.3_Missense_Mutation_p.P267L|LRCH1_uc001vbl.4_Missense_Mutation_p.P267L	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	267										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GAGAATAACCCTCTGCAGTCT	0.473000														55			18		0	0	1	0	0
PILRB	29990	broad.mit.edu	37	7	99956641	99956641	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99956641C>T	uc022aim.1	+	6	1465	c.393C>T	c.(391-393)acC>acT	p.T131T	PILRB_uc003uum.1_Non-coding_Transcript|PILRB_uc003uun.3_Silent_p.T131T	NM_178238	NP_839956	Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 3, mRNA.	131	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCTGGACACCCGGAGATCAG	0.592000														70			39		0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56989552	56989552	+	Splice_Site	SNP	C	T	T	rs1802023		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:56989552C>T	uc001cyj.2	-	4	1144	c.576_splice	c.e4-1	p.R192_splice		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	192					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						AGAAGGACTTCCTGCAAGAGC	0.502000														22			10		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110809020	110809020	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:110809020C>T	uc003kpf.3	+	7	872	c.637C>T	c.(637-639)Ctt>Ttt	p.L213F	CAMK4_uc010jbv.3_Missense_Mutation_p.L16F	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	213	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACCTGAAATTCTTAGAGGTTG	0.318000														131			34		0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154492783	154492783	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154492783G>A	uc009wow.3	+	4	983	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	TDRD10_uc001ffd.3_Missense_Mutation_p.E49K|TDRD10_uc001ffe.3_5'Flank	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	49	RRM.						RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTTGTAGGAGGAAATTCTGTA	0.423000														43			20		0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55419267	55419267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55419267G>A	uc001nhs.1	+	0	888	c.888G>A	c.(886-888)atG>atA	p.M296I		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	296					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)				AGAATGCAATGAAGAAACTGT	0.358000														214			78		0	0	1	0	0
C3orf25	90288	broad.mit.edu	37	3	129127538	129127538	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:129127538T>C	uc003emg.3	-	5	1362	c.1199A>G	c.(1198-1200)aAg>aGg	p.K400R		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						CTTACAGAGCTTCCAGCATTG	0.572000														10			5		0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55564480	55564480	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:55564480C>T	uc010igr.3	+	2	455	c.368C>T	c.(367-369)tCc>tTc	p.S123F	KIT_uc010igs.3_Missense_Mutation_p.S123F	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	123	Ig-like C2-type 2.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.S123F(2)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTTGACCGCTCCTTGTATGGG	0.473000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					19			10		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106757818	106757818	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106757818C>T	uc021ser.1	-	749		c.19560G>A								Parts of antibodies, mostly variable regions.																		CCAGGGCCTTCCCTGGGGGCT	0.537000														58			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179629027	179629027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179629027G>A	uc021vsy.1	-	42	10216	c.9991C>T	c.(9991-9993)Cca>Tca	p.P3331S	TTN_uc021vsz.1_Missense_Mutation_p.P3285S|TTN_uc021vta.1_Missense_Mutation_p.P3285S|TTN_uc021vtb.1_Missense_Mutation_p.P3285S|TTN_uc002umz.1_5'UTR|TTN_uc002unb.2_Missense_Mutation_p.P3331S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3331							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)			ACAACTTCTGGAACTAAAGAA	0.448000														31			14		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54450144	54450144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:54450144G>A	uc002iun.1	+	5	783	c.748G>A	c.(748-750)Gct>Act	p.A250T		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	250										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCAGCTGAAAGCTTGGGAGTG	0.498000														118			42		0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95680230	95680230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:95680230C>T	uc003ygq.4	+	9	1168	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	ESRP1_uc003ygr.4_Missense_Mutation_p.R329C|ESRP1_uc003ygs.4_Missense_Mutation_p.R329C|ESRP1_uc003ygt.4_Missense_Mutation_p.R329C|ESRP1_uc003ygu.4_Missense_Mutation_p.R329C|ESRP1_uc003ygv.3_Missense_Mutation_p.R169C|ESRP1_uc003ygw.3_Missense_Mutation_p.R169C	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	329	RRM 2.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	p.V328L(1)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AGTCATTGTCCGCATGCGGGG	0.483000														49			14		0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154317530	154317530	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154317530C>T	uc001fex.3	+	21	2469	c.2469C>T	c.(2467-2469)acC>acT	p.T823T		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	809					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCCGGGTGACCCCCTTGCAGA	0.552000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		123			49		0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112358111	112358111	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:112358111C>T	uc003dzf.3	-	1	860	c.642G>A	c.(640-642)ctG>ctA	p.L214L	CCDC80_uc011bhv.2_Silent_p.L214L|CCDC80_uc003dzg.3_Silent_p.L214L|CCDC80_uc003dzh.1_Silent_p.L214L	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	214										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGCTAGGGTCCAGGGGCTGCT	0.582000														136			19		0	0	1	0	0
SEPT8	23176	broad.mit.edu	37	5	132100089	132100089	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:132100089G>A	uc003kxr.2	-	2	412	c.174C>T	c.(172-174)tcC>tcT	p.S58S	SEPT8_uc003kxs.1_Silent_p.S58S|SEPT8_uc003kxu.2_Silent_p.S58S|SEPT8_uc011cxi.1_Silent_p.S58S|SEPT8_uc003kxv.2_Silent_p.S58S|SEPT8_uc003kxt.2_5'UTR	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	Homo sapiens septin 8 (SEPT8), transcript variant 1, mRNA.	58					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATCAGTGTGGATTTGCCAA	0.587000														34			11		0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197703506	197703506	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:197703506G>A	uc010iar.3	+	4	491	c.469G>A	c.(469-471)Gat>Aat	p.D157N	LMLN_uc003fyt.3_Missense_Mutation_p.D105N|LMLN_uc011buo.2_Missense_Mutation_p.D157N|LMLN_uc010ias.3_Missense_Mutation_p.D105N|LMLN_uc003fyu.3_5'UTR	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.	157					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GAAGGAAAACGATCCTCACAG	0.438000														98			86		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34002668	34002668	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34002668G>A	uc001bxm.1	-	61	10010	c.9833C>T	c.(9832-9834)cCt>cTt	p.P3278L	CSMD2_uc001bxn.1_Missense_Mutation_p.P3134L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3134						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGCACACCAGGGTCCGCACA	0.517000														52			29		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71510360	71510360	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71510360C>T	uc011caw.1	+	8	3498	c.3217C>T	c.(3217-3219)Cca>Tca	p.P1073S		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	1073					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CACCGGAACTCCATCTAGCGA	0.433000														95			21		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848257	73848257	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:73848257G>A	uc003xzb.3	+	2	1255	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	223					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)			GGAAACGGACGAATTTGGACA	0.478000														113			54		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13678033	13678033	+	Silent	SNP	C	T	T	rs17854691		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:13678033C>T	uc011avc.2	+	16	3685	c.3303C>T	c.(3301-3303)ttC>ttT	p.F1101F	FBLN2_uc011auz.2_Silent_p.F1080F|FBLN2_uc011avb.2_Silent_p.F1054F|FBLN2_uc011ava.2_Silent_p.F1101F	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	1054	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.F520F(1)|p.F1101F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCCTGCGCTTCGAGTGTCCTC	0.592000														19			8		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12343664	12343664	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12343664C>T	uc001atv.3	+	20	5646	c.5505C>T	c.(5503-5505)atC>atT	p.I1835I	VPS13D_uc001atw.3_Silent_p.I1835I|VPS13D_uc001atx.3_Silent_p.I1023I	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1835					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTTTTGGAATCGGCTCCACTG	0.483000														149			45		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085504	9085504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9085504C>T	uc002mkp.3	-	0	6515	c.6311G>A	c.(6310-6312)aGa>aAa	p.R2104K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2104	Ser-rich.|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						TTCTGGATTTCTTTGCTTAGC	0.502000														152			50		0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962931	94962931	+	Silent	SNP	G	A	A	rs34365882	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94962931G>A	uc001ydj.3	-	3	1480	c.684C>T	c.(682-684)ttC>ttT	p.F228F		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	228					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TCTCCAGAAAGAAATCTTCCT	0.413000														90			45		0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41797462	41797462	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:41797462C>T	uc001zoa.3	-	14	2047	c.1869G>A	c.(1867-1869)ctG>ctA	p.L623L	LTK_uc001zob.3_Silent_p.L562L|LTK_uc010ucx.1_Silent_p.L493L|LTK_uc010bcg.2_Silent_p.L321L	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	623	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGTCCTGGGCCAGTTGCAGCA	0.602000										TSP Lung(18;0.14)				39			18		0	0	1	0	0
KISS1	3814	broad.mit.edu	37	1	204159666	204159666	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204159666G>A	uc001har.3	-	2	517	c.363C>T	c.(361-363)ttC>ttT	p.F121F		NM_002256	NP_002247	Q15726	KISS1_HUMAN	Homo sapiens KiSS-1 metastasis-suppressor (KISS1), mRNA.	121	Essential for receptor binding and receptor activation.				cytoskeleton organization	extracellular region	protein binding			large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		CCCGCTTGCCGAAGCGCAGGC	0.692000														8			9		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35833903	35833903	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:35833903G>A	uc011axy.2	+	17	2277	c.2065G>A	c.(2065-2067)Gga>Aga	p.G689R	ARPP21_uc003cga.3_Missense_Mutation_p.G669R|ARPP21_uc003cgb.3_Missense_Mutation_p.G688R|ARPP21_uc003cgf.3_Missense_Mutation_p.G524R|ARPP21_uc003cgg.3_Missense_Mutation_p.G211R	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	688	Gln-rich.					cytoplasm	nucleic acid binding	p.F689F(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TGGTCAACAGGGATTCCAAGG	0.468000														184			72		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38941495	38941495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38941495G>A	uc021wvy.1	-	12	2111	c.1912C>T	c.(1912-1914)Cgc>Tgc	p.R638C		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	638					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGCCTCGGCGAAAGTAGTGG	0.423000														51			14		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48613161	48613161	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48613161G>A	uc003ctz.2	-	71	5878	c.5877C>T	c.(5875-5877)atC>atT	p.I1959I		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1959	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGTCTCCACGATCTCCCGCA	0.682000														65			29		0	0	1	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021459	46021459	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46021459C>T	uc002zfn.4	+	1	948	c.923C>T	c.(922-924)tCc>tTc	p.S308F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	313	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCCTCCTCCTCCGTGTCCCTC	0.692000														118			10		0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44477310	44477310	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44477310G>A	uc001cll.3	-	1	364	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.3_Intron|SLC6A9_uc009vxd.3_Intron|SLC6A9_uc010okn.2_Intron|SLC6A9_uc010oko.2_Intron|SLC6A9_uc001cln.3_Intron|SLC6A9_uc010okp.1_Intron	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	58						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CAGACTTTGAGGACAGACTCT	0.617000														53			21		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	91937	91937	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000209.1:91937G>A	uc002quk.1	+	5	705	c.650_splice	c.e5-1	p.G217_splice	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	217							receptor activity										TGTGTTCTAGGAAACTCTTCA	0.453000														188			62		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215866333	215866333	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:215866333C>T	uc002vew.3	-	20	3032	c.2812G>A	c.(2812-2814)Gaa>Aaa	p.E938K	ABCA12_uc002vev.3_Missense_Mutation_p.E620K|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	938					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.E938K(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCTCCATTTCATCTATGGTT	0.388000														159			58		0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917308	48917308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48917308C>T	uc002isv.4	+	1	1353	c.659C>T	c.(658-660)tCg>tTg	p.S220L	WFIKKN2_uc010dbu.3_Missense_Mutation_p.S127L	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	220	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GTGCACCAGTCGGTCACCATG	0.637000														48			14		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89939773	89939773	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89939773G>A	uc003kju.3	+	13	2803	c.2707G>A	c.(2707-2709)Gaa>Aaa	p.E903K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	903					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATGATAAATGAAAGCAAAGG	0.294000														20			6		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156512	155156512	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155156512C>T	uc003inw.2	-	24	7927	c.7927G>A	c.(7927-7929)Gaa>Aaa	p.E2643K		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2643					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTTTCTCCTTCCACAGAACAG	0.468000														88			21		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599756	29599756	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29599756G>A	uc001usl.4	+	0	1009	c.951G>A	c.(949-951)gaG>gaA	p.E317E		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	307						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAAAGGGAGAGGCCAAGCTGG	0.502000														28			17		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76471470	76471470	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76471470C>T	uc010dhp.2	-	53	8526	c.8401G>A	c.(8401-8403)Ggg>Agg	p.G2801R	DNAH17_uc002jvs.3_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCGCCCACCCCCACCAGCAGG	0.612000														81			25		0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350251	134350251	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:134350251C>T	uc003qem.1	-	1	883	c.712G>A	c.(712-714)Gga>Aga	p.G238R		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	238						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	p.L237I(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		CTTAACCTTCCAAGAACCTTG	0.443000														42			33		0	0	1	0	0
PCDHB18	54660	broad.mit.edu	37	5	140615524	140615524	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140615524C>T	uc003ljc.1	+	0	1587	c.1239C>T	c.(1237-1239)ccC>ccT	p.P413P						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						ACAACAGCCCCGCCCTGCACA	0.637000														275			87		0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49165917	49165917	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49165917G>A	uc003cwe.3	-	14	2291	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	LAMB2_uc003cwf.1_Silent_p.I664I	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	664	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGTCCCTTGGATGCGATCAT	0.612000														36			10		0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71797676	71797676	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:71797676G>A	uc002llf.2	-	3	630	c.550C>T	c.(550-552)Cca>Tca	p.P184S	FBXO15_uc002lle.2_Missense_Mutation_p.P108S	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	108										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GTCTTAACTGGAAGGCCTGTG	0.433000														59			20		0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72473661	72473661	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72473661G>A	uc002jkv.3	+	3	941	c.620G>A	c.(619-621)tGg>tAg	p.W207*	CD300A_uc002jkw.3_Nonsense_Mutation_p.W94*|CD300A_uc010dfr.3_Nonsense_Mutation_p.W94*|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	207					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TTTCAGAAATGGATCAAAGGT	0.597000														35			6		0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60242078	60242078	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:60242078C>T	uc002lip.4	+	12	2764	c.2764C>T	c.(2764-2766)Ccc>Tcc	p.P922S	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Missense_Mutation_p.P392S	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	922					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ACCAGGCTCTCCCCTTGCTGC	0.617000														49			24		0	0	1	0	0
SPAG7	9552	broad.mit.edu	37	17	4864138	4864138	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:4864138G>A	uc002gae.3	-	1	129	c.96C>T	c.(94-96)gcC>gcT	p.A32A	SPAG7_uc002gaf.3_Silent_p.A32A	NM_004890	NP_004881	O75391	SPAG7_HUMAN	Homo sapiens sperm associated antigen 7 (SPAG7), mRNA.	32						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TCTTCAGGCGGGCGGCCTGTT	0.502000														62			26		0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256380	63256380	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:63256380G>A	uc011cqt.2	-	0	1167	c.1167C>T	c.(1165-1167)ggC>ggT	p.G389G		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	389					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGTTGGAGTAGCCCAGCCAAT	0.507000														234			60		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28649015	28649015	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28649015C>T	uc002kwl.4	-	14	2807	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K	DSC2_uc002kwk.4_Missense_Mutation_p.E785K	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	785					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTCACCATTTCGATGGTCTCC	0.582000														60			14		0	0	1	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737853	62737853	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62737853G>A	uc011abt.2	-	0	332	c.332C>T	c.(331-333)cCc>cTc	p.P111L		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	111						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CTCCCCGAAGGGCCAGTACTG	0.607000														33			16		0	0	1	0	0
TMEM30A	55754	broad.mit.edu	37	6	75994289	75994289	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:75994289G>A	uc003phw.2	-	0	344	c.66C>T	c.(64-66)acC>acT	p.T22T	TMEM30A_uc003phx.2_Silent_p.T22T|LOC100506804_uc010kbd.2_5'Flank	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN	Homo sapiens transmembrane protein 30A (TMEM30A), transcript variant 1, mRNA.	22						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGTCTTCGCGGTGCCCCCCG	0.617000														139			21		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035837	36035837	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:36035837C>T	uc003jjz.2	-	6	1667	c.1535G>A	c.(1534-1536)tGg>tAg	p.W512*	UGT3A2_uc011cos.2_Nonsense_Mutation_p.W478*|UGT3A2_uc011cot.2_Nonsense_Mutation_p.W210*	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	512						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACGCAGCCACCAGACAGCCAT	0.587000														53			14		0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999049	143999049	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:143999049G>A	uc003yxk.1	-	0	211	c.208C>T	c.(208-210)Cag>Tag	p.Q70*		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	70					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			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)	TGGAAGGTCTGGTGCATCTCC	0.637000									Familial Hyperaldosteronism type I					62			29		0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24845205	24845205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24845205G>A	uc001wpc.3	+	7	2275	c.1954G>A	c.(1954-1956)Gag>Aag	p.E652K	NFATC4_uc010alr.3_Missense_Mutation_p.E715K|NFATC4_uc010tok.2_Missense_Mutation_p.E715K|NFATC4_uc010tol.2_Missense_Mutation_p.E715K|NFATC4_uc010too.2_Missense_Mutation_p.E665K|NFATC4_uc010tom.2_Missense_Mutation_p.E665K|NFATC4_uc010ton.2_Missense_Mutation_p.E665K|NFATC4_uc010toq.2_Missense_Mutation_p.E684K|NFATC4_uc010alt.3_Missense_Mutation_p.E684K|NFATC4_uc010top.2_Missense_Mutation_p.E684K|NFATC4_uc010tor.2_Missense_Mutation_p.E652K|NFATC4_uc010tos.2_Missense_Mutation_p.E582K|NFATC4_uc010tot.2_Missense_Mutation_p.E640K|NFATC4_uc010tou.2_Missense_Mutation_p.E582K|NFATC4_uc010tov.2_Missense_Mutation_p.E640K|NFATC4_uc010tow.2_Missense_Mutation_p.E582K|NFATC4_uc010alv.3_Missense_Mutation_p.E640K|NFATC4_uc010tox.2_Missense_Mutation_p.E582K|NFATC4_uc001wpd.3_Missense_Mutation_p.E187K|NFATC4_uc010toy.2_Missense_Mutation_p.E187K|NFATC4_uc010toz.2_Missense_Mutation_p.E187K|NFATC4_uc010tpa.2_5'UTR|NFATC4_uc010tpb.2_5'UTR	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	652	IPT/TIG.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GACTGTCCCCGAGTACAGCAA	0.577000														221			24		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34684295	34684295	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34684295C>T	uc001bxt.3	+	6	2568	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	C1orf94_uc001bxs.4_Missense_Mutation_p.S387L	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	387							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGGTTCGGCTCGACATCCGGA	0.448000														85			22		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233507881	233507881	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233507881G>A	uc001hvt.4	+	5	1911	c.1650G>A	c.(1648-1650)atG>atA	p.M550I	KIAA1804_uc001hvs.1_Missense_Mutation_p.M550I	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	550					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GCCCCACAATGATGCCCCGAC	0.557000														80			31		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108297011	108297011	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:108297011C>T	uc003ymn.3	-	6	1572	c.1104G>A	c.(1102-1104)caG>caA	p.Q368Q	ANGPT1_uc011lhv.2_Silent_p.Q168Q|ANGPT1_uc003ymo.3_Silent_p.Q367Q|ANGPT1_uc003ymp.4_Silent_p.Q167Q	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	368	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGTACTGCCTCTGACTGGTAA	0.403000														53			16		0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75403345	75403345	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:75403345C>T	uc004aiz.1	+	13	1515	c.975C>T	c.(973-975)atC>atT	p.I325I	TMC1_uc010moz.1_Silent_p.I283I|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Silent_p.I179I|TMC1_uc010mpa.1_Silent_p.I179I	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	325					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ACTACCTGATCGGCAATCCTG	0.398000														55			21		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272052	52272052	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52272052G>A	uc002pxr.3	+	1	186	c.141G>A	c.(139-141)gtG>gtA	p.V47V	FPR2_uc002pxs.4_Silent_p.V47V|FPR2_uc010epf.3_Silent_p.V47V|FPR2_uc021uyp.1_Silent_p.V47V	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	47					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						ATGGGCTTGTGATCTGGGTGG	0.557000														84			27		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81702588	81702588	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81702588G>A	uc001kbh.3	-	2	290	c.247C>T	c.(247-249)Cca>Tca	p.P83S		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	83	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GGCCCAACTGGGCCAGCTTGT	0.577000														87			41		0	0	1	0	0
POP4	10775	broad.mit.edu	37	19	30106194	30106194	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:30106194C>T	uc002nsf.2	+	6	626	c.570C>T	c.(568-570)ggC>ggT	p.G190G	POP4_uc002nsg.2_Silent_p.G109G	NM_006627	NP_006618	O95707	RPP29_HUMAN	Homo sapiens processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) (POP4), transcript variant 1, mRNA.	190					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	RNA binding|identical protein binding|ribonuclease P activity			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			AAACCGATGGCTTTATTTCCT	0.383000														49			23		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967979	4967979	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4967979G>A	uc010qys.2	-	0	352	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	118					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)		GACATGATCAGGAGGACTGAG	0.443000														288			48		0	0	1	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36488689	36488689	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36488689C>T	uc021wdj.1	+	14	1637	c.1546C>T	c.(1546-1548)Cac>Tac	p.H516Y	CTNNBL1_uc002xhh.3_Missense_Mutation_p.H329Y|CTNNBL1_uc002xhi.3_Non-coding_Transcript|CTNNBL1_uc002xhj.3_Missense_Mutation_p.H264Y	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	516					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CCAGAGGGTTCACCAGATCCT	0.428000														129			62		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72943463	72943464	+	Missense_Mutation	DNP	GG	AA	AA	rs113286281		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72943463_72943464GG>AA	uc010wrr.2	+	5	1513_1514	c.1513_1514GG>AA	c.(1513-1515)ggc>AAc	p.G505N	OTOP3_uc010wrq.2_Missense_Mutation_p.G487N	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	505						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GCTGGGCCAGGGCCTGCAGCGG	0.644000														42			17		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158587369	158587369	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158587369G>A	uc001fst.1	-	46	6757	c.6558C>T	c.(6556-6558)ctC>ctT	p.L2186L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2186					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGTTTCTTTGAGCAATGATC	0.343000														39			18		0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52306893	52306893	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52306893G>A	uc001rzj.3	+	2	355	c.72G>A	c.(70-72)gtG>gtA	p.V24V	ACVRL1_uc021qxz.1_Silent_p.V24V|ACVRL1_uc001rzk.3_Silent_p.V24V|ACVRL1_uc010snm.2_Intron	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	24					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GAGACCCTGTGAAGCCGTCTC	0.657000														9			7		0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375997	93375997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:93375997G>A	uc022bjs.1	-	0	113	c.113C>T	c.(112-114)cCg>cTg	p.P38L	DIRAS2_uc004aqx.1_Missense_Mutation_p.P38L	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	38					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.P38Q(2)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTCCACCGTCGGGATGTAGCT	0.577000														161			28		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466841	50466841	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:50466841G>A	uc001vdk.2	+	0	2297	c.2115G>A	c.(2113-2115)gtG>gtA	p.V705V						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		TGTTTCCAGTGGATACGAGGG	0.522000														248			85		0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24573359	24573359	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:24573359C>T	uc002dmh.3	+	9	2206	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	RBBP6_uc010vcb.1_Missense_Mutation_p.S256F|RBBP6_uc002dmi.3_Missense_Mutation_p.S389F|RBBP6_uc010bxr.3_Missense_Mutation_p.S389F|RBBP6_uc002dmk.3_Missense_Mutation_p.S256F	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	389					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TCATTAACTTCTAATCAGTCT	0.438000														144			8		0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785174	1785174	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:1785174C>T	uc002ltw.3	-	26	3750	c.3516G>A	c.(3514-3516)acG>acA	p.T1172T	ATP8B3_uc002ltv.3_Silent_p.T1135T|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1172					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)		ACGGGAAGGTCGTGGGGGATA	0.617000														7			4		0	0	1	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75388145	75388145	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75388145G>A	uc010tux.2	-	1	628	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc021rwp.1_Missense_Mutation_p.R34C|RPS6KL1_uc001xqy.1_Missense_Mutation_p.R34C	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA.	34						ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		ACCCTGTTGCGAATCTGCTCC	0.627000														136			14		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447371	226447371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:226447371C>T	uc002voe.2	+	3	1413	c.1238C>T	c.(1237-1239)tCg>tTg	p.S413L	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.S183L	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	413	Pro-rich.																CTCTCCTCGTCGCCCCCACCC	0.682000														15			5		0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55578978	55578978	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55578978C>T	uc001nhw.1	+	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				TGGCTGAGTTCATTCTCCTTG	0.423000														196			71		0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73280619	73280619	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:73280619C>T	uc003hgk.2	-	3	611	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	192					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTTTTTCTTCCTCCATCTGT	0.388000														85			36		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108682331	108682331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108682331C>T	uc003dxl.3	-	26	2816	c.2729G>A	c.(2728-2730)aGa>aAa	p.R910K	MORC1_uc011bhn.2_Missense_Mutation_p.R889K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	910					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGAGATTTTTCTTTTATTTTC	0.328000														144			34		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151970819	151970819	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:151970819G>A	uc003wla.3	-	6	1202	c.983C>T	c.(982-984)cCa>cTa	p.P328L		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	328					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AATGTGTTCTGGACAAAGCAG	0.378000			N		medulloblastoma									381			18		0	0	1	0	0
FAIM3	9214	broad.mit.edu	37	1	207085271	207085271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207085271C>T	uc001hey.3	-	3	693	c.514G>A	c.(514-516)Gtc>Atc	p.V172I	FAIM3_uc010prz.2_Missense_Mutation_p.V60I|FAIM3_uc021pif.1_Missense_Mutation_p.V172I|FAIM3_uc010psa.2_Missense_Mutation_p.V81I	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA.	172					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					ACTGGAGGGACCTTGCCCCTT	0.542000											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067484	9067484	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9067484G>A	uc002mkp.3	-	2	20166	c.19962C>T	c.(19960-19962)tcC>tcT	p.S6654S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6656	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.F6653L(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						CATGAGCCAGGGAGAATGTTG	0.502000														71			33		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61568368	61568368	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61568368C>T	uc002jau.2	+	17	2729	c.2695C>T	c.(2695-2697)Cct>Tct	p.P899S	ACE_uc010wpj.2_Missense_Mutation_p.P325S|ACE_uc010ddv.2_Missense_Mutation_p.P126S|ACE_uc002jav.2_Missense_Mutation_p.P325S|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.P145S	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	899	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)	GGTGCCCTTCCCTTCAGCCCC	0.617000														127			42		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202777349	202777349	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:202777349G>A	uc009xag.3	-	0	201	c.85C>T	c.(85-87)Cca>Tca	p.P29S	KDM5B_uc001gyf.3_Missense_Mutation_p.P29S|KDM5B_uc001gyg.1_5'Flank	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	29					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CACTCGGGTGGAGGCAGGAAC	0.706000														42			22		0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164467888	164467888	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:164467888G>A	uc002uck.1	-	2	765	c.454C>T	c.(454-456)Cct>Tct	p.P152S		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	152						nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.P152A(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GCTACCCCAGGAGAGCTTCCT	0.512000														104			14		0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12774193	12774193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12774193G>A	uc002mub.2	-	5	923	c.847C>T	c.(847-849)Cgc>Tgc	p.R283C	MAN2B1_uc010dyv.1_Missense_Mutation_p.R283C	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	283					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCGGGGCTGCGAGGGTCCTCC	0.567000														73			35		0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256409	63256409	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:63256409G>A	uc011cqt.2	-	0	1138	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	380					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCGCCCAACAGGGTGGGCATG	0.527000														206			69		0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40123361	40123361	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:40123361T>A	uc003guy.4	+	8	3968	c.3630T>A	c.(3628-3630)acT>acA	p.T1210T	N4BP2_uc010ifq.3_Silent_p.T1130T|N4BP2_uc010ifr.3_Silent_p.T1130T	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	1210						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	p.V1209I(1)		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						GAGCTGTCACTCCTGAAAACC	0.423000														73			40		0	0	1	0	0
TMEM74B	55321	broad.mit.edu	37	20	1162148	1162148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:1162148C>T	uc002weq.1	-	1	787	c.115G>A	c.(115-117)Ggt>Agt	p.G39S	TMEM74B_uc010gaa.1_Missense_Mutation_p.G39S	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	Homo sapiens transmembrane protein 74B (TMEM74B), mRNA.	39						integral to membrane	protein binding										GCTTGGGGACCATTGCTCAGT	0.602000														53			4		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6083359	6083359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:6083359G>A	uc010idb.1	-	5	1564	c.1078C>T	c.(1078-1080)Ctc>Ttc	p.L360F	JAKMIP1_uc010idc.1_Missense_Mutation_p.L195F|JAKMIP1_uc010idd.1_Missense_Mutation_p.L360F|JAKMIP1_uc003giu.4_Missense_Mutation_p.L360F|JAKMIP1_uc011bwc.2_Missense_Mutation_p.L195F|JAKMIP1_uc003giv.4_Missense_Mutation_p.L360F|JAKMIP1_uc010ide.3_Missense_Mutation_p.L360F	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	360	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.L360I(3)|p.L360L(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCCGCGTGAGGTTCTTGATT	0.532000														80			26		0	0	1	0	0
MFAP5	8076	broad.mit.edu	37	12	8802109	8802109	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8802109C>T	uc001qut.1	-	8	610	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	MFAP5_uc001qus.2_Missense_Mutation_p.E123K|MFAP5_uc009zge.1_Missense_Mutation_p.E108K	NM_003480	NP_003471	Q13361	MFAP5_HUMAN	Homo sapiens microfibrillar associated protein 5 (MFAP5), mRNA.	133						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					TTCATAGCTTCGTGTTCCTTA	0.433000														42			19		0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52993438	52993438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:52993438C>T	uc003pbp.3	-	5	1086	c.877G>A	c.(877-879)Gat>Aat	p.D293N		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	293						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GCTTGTAGATCGCCATGATCA	0.473000														73			9		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64664000	64664000	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64664000G>A	uc001obx.3	-	38	5476	c.5361C>T	c.(5359-5361)gcC>gcT	p.A1787A	ATG2A_uc001obw.3_Silent_p.A552A	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1787							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGCCAAAGGAGGCAGCCCCTC	0.637000											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		29			14		0	0	1	0	0
MOGAT1	116255	broad.mit.edu	37	2	223559950	223559950	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:223559950G>A	uc010fws.1	+	4	844	c.796G>A	c.(796-798)Gga>Aga	p.G266R	MOGAT1_uc010fwt.1_Missense_Mutation_p.G226R	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA.	266					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		TCATGCCAGGGGAGTTTTTCA	0.388000														27			5		0	0	1	0	0
SPNS2	124976	broad.mit.edu	37	17	4437103	4437103	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:4437103G>A	uc002fxx.2	+	8	1513	c.1299G>A	c.(1297-1299)gaG>gaA	p.E433E	SPNS2_uc002fxy.2_5'Flank	NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	Homo sapiens spinster homolog 2 (Drosophila) (SPNS2), mRNA.	433					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TCGTCGGGGAGACGCTGCTGT	0.592000														46			8		0	0	1	0	0
EIF5AL1	143244	broad.mit.edu	37	10	81272747	81272747	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81272747C>T	uc009xrx.3	+	0	391	c.342C>T	c.(340-342)ctC>ctT	p.L114L	AK302451_uc010qls.1_5'Flank	NM_001099692	NP_001093162	Q6IS14	IF5AL_HUMAN	Homo sapiens eukaryotic translation initiation factor 5A-like 1 (EIF5AL1), mRNA.	114					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			ACCTTCGTCTCCCTGAGGGAG	0.547000														137			25		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114267166	114267166	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:114267166G>A	uc003ibe.4	+	34	4459	c.4359G>A	c.(4357-4359)ccG>ccA	p.P1453P	ANK2_uc003ibd.4_Silent_p.P1444P|ANK2_uc003ibf.4_Silent_p.P1453P|ANK2_uc011cgc.2_Silent_p.P629P|ANK2_uc003ibg.4_Silent_p.P448P|ANK2_uc003ibh.4_Silent_p.P127P|ANK2_uc011cgb.1_Silent_p.P1468P	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1420					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.P1453P(4)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCACTTTGCCGATTTATACAA	0.393000														99			14		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102711167	102711167	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102711167G>A	uc001phj.1	-	4	848	c.783C>T	c.(781-783)tcC>tcT	p.S261S		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	261					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CACCATAGAGGGACTGAATGC	0.418000														67			35		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45929264	45929264	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45929264G>A	uc002zfe.1	-	9	1638	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F	TSPEAR_uc010gpv.1_Silent_p.F456F	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	524					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CTGCAGCACCGAACGTCTAGG	0.622000														30			8		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399472	40399472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:40399472C>T	uc003oph.1	-	1	1846	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	461	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGTACCTCATCGTCAGAGCAG	0.592000														50			21		0	0	1	0	0
SUSD1	64420	broad.mit.edu	37	9	114874094	114874094	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:114874094G>A	uc010mui.3	-	7	1052	c.1011C>T	c.(1009-1011)gaC>gaT	p.D337D	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Silent_p.D337D|SUSD1_uc010muj.3_Silent_p.D337D			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	337						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ATTCCATAGGGTCCAACCGTT	0.507000														48			22		0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28305321	28305321	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:28305321G>A	uc002ymg.3	-	4	2461	c.1732C>T	c.(1732-1734)Cag>Tag	p.Q578*		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	578	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGAGAACACTGGCCCCAGGAT	0.483000														30			9		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12725998	12725998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12725998C>T	uc001auf.3	+	3	476	c.476C>T	c.(475-477)tCc>tTc	p.S159F		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	159						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GACCACCATTCCCCTGCCCTT	0.527000														86			24		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117299059	117299059	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:117299059G>A	uc001prh.1	-	32	6329	c.6327C>T	c.(6325-6327)tcC>tcT	p.S2109S		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	2049					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)		CCAGGGTGTAGGATTTGGAGT	0.627000														70			25		0	0	1	0	0
WNT5A	7474	broad.mit.edu	37	3	55504230	55504230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:55504230C>T	uc003dhn.3	-	4	1351	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	WNT5A_uc003dhm.3_Missense_Mutation_p.D330N|WNT5A_uc010hmw.3_Missense_Mutation_p.D330N|WNT5A_uc010hmx.3_Missense_Mutation_p.D256N	NM_003392	NP_003383	P41221	WNT5A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5A (WNT5A), transcript variant 1, mRNA.	345					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of BMP signaling pathway|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell chemotaxis|positive regulation of angiogenesis|positive regulation of cGMP metabolic process|positive regulation of cartilage development|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TTGAACTGGTCGTAGCCACGG	0.617000														81			25		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181764142	181764142	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181764142C>T	uc009wxt.3	+	45	6365	c.6170C>T	c.(6169-6171)tCc>tTc	p.S2057F	CACNA1E_uc001gow.3_Missense_Mutation_p.S2014F|CACNA1E_uc009wxs.3_Missense_Mutation_p.S1995F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2057					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						TACCACTCCTCCTTGCGGCTG	0.542000														41			10		0	0	1	0	0
C8orf31	286122	broad.mit.edu	37	8	144126224	144126224	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144126224G>A	uc003yxp.1	+	3	697	c.345G>A	c.(343-345)gaG>gaA	p.E115E	C8orf31_uc003yxq.1_Non-coding_Transcript|C8orf31_uc003yxr.1_Non-coding_Transcript	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN	Homo sapiens chromosome 8 open reading frame 31 (C8orf31), mRNA.	115										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGAGCTGGGAGAGAGGGCAAG	0.622000														14			9		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138683650	138683650	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:138683650G>A	uc011mdq.2	+	29	3584	c.3510G>A	c.(3508-3510)atG>atA	p.M1170I	KCNT1_uc011mdr.2_Missense_Mutation_p.M1018I|KCNT1_uc010nbf.3_Missense_Mutation_p.M1146I	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	1170						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAGACGAGATGAACGACCACC	0.647000														103			30		0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201358367	201358367	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201358367G>A	uc001gwm.3	-	1	338	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	LAD1_uc009wzu.1_Missense_Mutation_p.R57C	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	35	Poly-Arg.					basement membrane	structural molecule activity	p.R35L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CTCAGGTTGCGGTGCCGCCGC	0.657000														44			19		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25965265	25965266	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:25965265_25965266GG>AA	uc002rgs.2	-	11	4161_4162	c.3940_3941CC>TT	c.(3940-3942)ccg>TTg	p.P1314L	ASXL2_uc002rgt.1_Missense_Mutation_p.P797L	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	1314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATACAACTTCGGGGTTTGCAGG	0.554000														9			6		0	0	1	0	0
MKNK1	8569	broad.mit.edu	37	1	47042299	47042299	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47042299G>A	uc001cqb.3	-	4	506	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	MKNK1_uc010omd.2_Silent_p.V17V|MKNK1_uc001cqc.3_Missense_Mutation_p.R88W|MKNK1_uc009vyi.3_Missense_Mutation_p.R88W|MKNK1_uc010ome.2_Silent_p.V17V|MKNK1_uc009vyj.3_Missense_Mutation_p.R33W|MKNK1_uc001cqd.2_Missense_Mutation_p.R76W|MKNK1_uc010omf.1_Missense_Mutation_p.R88W	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 1 (MKNK1), transcript variant 1, mRNA.	88	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					ACCCTACTCCGACTGTGCCCT	0.522000														103			36		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48753420	48753420	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48753420G>A	uc002isl.3	+	21	3116	c.3036G>A	c.(3034-3036)ctG>ctA	p.L1012L	ABCC3_uc002isn.3_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1012	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCCTGAGGCTGGGCGTCTATG	0.557000														48			5		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174326	150174326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150174326G>A	uc003whj.3	+	4	1786	c.1456G>A	c.(1456-1458)Gga>Aga	p.G486R		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	486						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.G486R(2)		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)		GACATGGGACGGACAGGAGGT	0.597000														37			24		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141740591	141740591	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141740591C>T	uc003vwy.3	+	20	2497	c.2443C>T	c.(2443-2445)Ctt>Ttt	p.L815F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	815	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGACTTCACCTTCGAGGAGG	0.478000														38			16		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33920725	33920725	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:33920725C>T	uc001zhi.3	+	20	2698	c.2628C>T	c.(2626-2628)atC>atT	p.I876I	RYR3_uc010bar.3_Silent_p.I876I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	876	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAAAACATCCATGAGCTTT	0.443000														67			17		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801491	185801491	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:185801491C>T	uc002uph.3	+	3	1962	c.1368C>T	c.(1366-1368)agC>agT	p.S456S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	456						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTTCCTATAGCTGTAATCCTC	0.353000														108			40		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13659684	13659684	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:13659684G>A	uc011avc.2	+	5	2220	c.1838G>A	c.(1837-1839)gGa>gAa	p.G613E	FBLN2_uc011auz.2_Missense_Mutation_p.G639E|FBLN2_uc011avb.2_Missense_Mutation_p.G613E|FBLN2_uc011ava.2_Missense_Mutation_p.G613E	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	613	EGF-like 1; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTCCTCCCGGGAGAGCTGTGC	0.632000														103			20		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086445	92086445	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92086445C>T	uc001pdj.4	+	0	1184	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	389	Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGAATTTTCCCCTCCTGGTG	0.403000										TCGA Ovarian(4;0.039)				20			11		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304276	10304276	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10304276C>T	uc002gmm.2	-	26	3350	c.3255_splice	c.e26-1	p.K1085_splice	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1085					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAAATTCTTTCCTTTAGACAG	0.333000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					30			20		0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157689119	157689119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:157689119C>T	uc003iph.2	-	4	1218	c.727G>A	c.(727-729)Gag>Aag	p.E243K	PDGFC_uc003ipi.2_Missense_Mutation_p.E80K|PDGFC_uc011cis.2_Missense_Mutation_p.E80K|PDGFC_uc011cir.2_Missense_Mutation_p.E87K	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	243					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CTTACCTCCTCTGTTAGAAGG	0.393000														146			67		0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141952311	141952311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141952311C>T	uc003vxb.3	-	3	877	c.557G>A	c.(556-558)gGa>gAa	p.G186E	PRSS58_uc003vxc.4_Missense_Mutation_p.G186E	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	186	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CTGCCTCCTTCCTGGCACAAT	0.423000														119			58		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454371	84454371	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:84454371G>A	uc001vlk.3	-	0	2158	c.1272C>T	c.(1270-1272)gaC>gaT	p.D424D		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	424						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCCACCTGAGGTCCAAAAGGT	0.468000														260			28		0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141694698	141694698	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:141694698G>A	uc010jgi.1	-	2	286	c.45C>T	c.(43-45)tcC>tcT	p.S15S	SPRY4_uc003lml.2_5'UTR|SPRY4_uc021yet.1_5'Flank	NM_030964	NP_001120968	Q9C004	SPY4_HUMAN	Homo sapiens sprouty homolog 4 (Drosophila) (SPRY4), transcript variant 1, mRNA.	0					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACTGTACGGAGAAACAGG	0.612000									Testicular Cancer, Familial Clustering of					21			6		0	0	1	0	0
SMAD6	4091	broad.mit.edu	37	15	67073660	67073660	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:67073660C>T	uc002aqf.3	+	3	2201	c.1278C>T	c.(1276-1278)gtC>gtT	p.V426V	SMAD6_uc010bhx.3_Non-coding_Transcript|SMAD6_uc002aqg.3_Silent_p.V165V	NM_005585	NP_005576	O43541	SMAD6_HUMAN	Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1, mRNA.	426	MH2.				BMP signaling pathway|immune response|negative regulation of BMP signaling pathway|negative regulation of SMAD protein complex assembly|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	I-SMAD binding|R-SMAD binding|co-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						GCGCCCTGGTCGTGCGCAAGG	0.731000														37			10		0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819535	17819535	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:17819535C>T	uc022btm.1	-	0	596	c.596G>A	c.(595-597)gGg>gAg	p.G199E	RAI2_uc004cyf.3_Missense_Mutation_p.G199E|RAI2_uc004cyg.3_Missense_Mutation_p.G199E|RAI2_uc011miy.2_Missense_Mutation_p.G149E|RAI2_uc022btl.1_Missense_Mutation_p.G199E|RAI2_uc004cyh.4_Missense_Mutation_p.G199E|RAI2_uc010nfa.3_Missense_Mutation_p.G199E	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	199					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGGTGGGGGCCCGAGAGTGCC	0.647000														20			18		0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68398989	68398989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:68398989C>T	uc002ewa.3	-	3	1752	c.1330G>A	c.(1330-1332)Gtg>Atg	p.V444M	SMPD3_uc010cfe.3_Missense_Mutation_p.V444M|SMPD3_uc010vlh.2_Missense_Mutation_p.V444M	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	444					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GTGCTTCCCACCTGCACCTGG	0.617000														35			12		0	0	1	0	0
LACC1	144811	broad.mit.edu	37	13	44464388	44464388	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:44464388C>T	uc010acg.3	+	5	1757	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G	LACC1_uc001uzf.4_Silent_p.G424G	NM_001128303	NP_694950	Q8IV20	CM031_HUMAN	Homo sapiens laccase (multicopper oxidoreductase) domain containing 1 (LACC1), transcript variant 1, mRNA.	424																	CACAGATTGGCTTCATATCAA	0.438000														64			20		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19758545	19758545	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19758545G>A	uc002nnh.4	-	19	2684	c.2656C>T	c.(2656-2658)Cct>Tct	p.P886S	ATP13A1_uc002nne.3_Missense_Mutation_p.P26S|ATP13A1_uc002nnf.4_Missense_Mutation_p.P254S|ATP13A1_uc002nng.3_Missense_Mutation_p.P768S	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	886					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						ACCCGCTCAGGGGCATTGGCC	0.682000														6			4		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144856938	144856938	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:144856938G>A	uc021ouh.1	-	39	6849	c.6547C>T	c.(6547-6549)Cac>Tac	p.H2183Y	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_Missense_Mutation_p.H2183Y|PDE4DIP_uc001elx.4_Missense_Mutation_p.H2077Y|PDE4DIP_uc001elv.4_Missense_Mutation_p.H1190Y	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2183					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)		TCATCAATGTGGCCAATGACA	0.517000			T	PDGFRB	MPD									66			8		0	0	1	0	0
PABPC1P2	728773	broad.mit.edu	37	2	147345601	147345601	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:147345601G>C	uc002twf.4	+	0	977	c.61G>C	c.(61-63)Gaa>Caa	p.E21Q						Homo sapiens poly(A) binding protein, cytoplasmic 1 pseudogene 2 (PABPC1P2), non-coding RNA.																		GTCTCCTAAAGAACAAGAAGC	0.423000														7			2		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171168627	171168627	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171168627G>A	uc001ghk.1	+	5	744	c.627_splice	c.e5+1	p.Q209_splice	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	209					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGCTGCTCAGGTGTGATGCT	0.498000														97			16		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127323759	127323759	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:127323759G>A	uc003ejp.3	+	3	490	c.433G>A	c.(433-435)Gag>Aag	p.E145K	MCM2_uc011bkm.2_Missense_Mutation_p.E15K|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Missense_Mutation_p.E29K	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	145	Interaction with MYST2 (By similarity).				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GGAGGACGAGGAGCGCCCTGC	0.647000														20			12		0	0	1	0	0
C1QTNF5	114902	broad.mit.edu	37	11	119216557	119216557	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:119216557G>A	uc010rzg.1	-	3	513	c.353C>T	c.(352-354)aCc>aTc	p.T118I	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	118	Poly-Thr.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ggtggtgatggtgggggtggt	0.657000														61			27		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755960	140755960	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140755960C>T	uc003ljy.2	+	0	2310	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Silent_p.F770F	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	779					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)			ATCTGATTTTCCCCCAGCCCA	0.517000														120			32		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56247040	56247040	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:56247040G>A	uc002lhj.4	-	3	1182	c.968C>T	c.(967-969)tCa>tTa	p.S323L		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	323							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTCATCATCTGAAAACTCCTC	0.458000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		204			24		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64390363	64390363	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64390363G>A	uc021qkw.1	-	20	4497	c.4035C>T	c.(4033-4035)tcC>tcT	p.S1345S	NRXN2_uc021qkx.1_Silent_p.S1275S|NRXN2_uc001oas.3_Silent_p.S1275S|NRXN2_uc001oao.3_5'UTR|NRXN2_uc001oap.3_Silent_p.S299S|NRXN2_uc001oaq.3_Silent_p.S1012S	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1345	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding	p.S1345S(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGAGCAGCACGGACGGCCCCT	0.672000														16			10		0	0	1	0	0
SNX14	57231	broad.mit.edu	37	6	86277262	86277262	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:86277262G>A	uc003pkr.3	-	4	644	c.451C>T	c.(451-453)Ccg>Tcg	p.P151S	SNX14_uc003pkp.3_Missense_Mutation_p.P14S|SNX14_uc003pkq.3_5'UTR|SNX14_uc011dzg.2_Missense_Mutation_p.P99S|SNX14_uc003pks.3_Intron|SNX14_uc003pkt.3_Missense_Mutation_p.P151S	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	151	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CTGTACCACGGATAAACAAAG	0.274000														60			21		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908361	164908361	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:164908361C>A	uc003fej.4	-	1	702	c.258G>T	c.(256-258)agG>agT	p.R86S	SLITRK3_uc003fek.3_Missense_Mutation_p.R86S|SLITRK3_uc021xgy.1_Missense_Mutation_p.R86S	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	86						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCATAGAATTCCTCTGCAGAT	0.348000										HNSCC(40;0.11)				68			33		4.02929e-09	4.04253e-09	1	1	0
OR8D1	283159	broad.mit.edu	37	11	124180569	124180569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124180569G>A	uc010sag.2	-	0	94	c.94C>T	c.(94-96)Ctg>Ttg	p.L32L		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	32					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)		TAGATTCCCAGGAACAGGAGG	0.483000														137			18		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182358140	182358140	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:182358140C>T	uc002unu.3	+	10	2005	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F		NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	414					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CGTCAACCTTCTCACAGGTAA	0.368000														83			33		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80366371	80366371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:80366371G>A	uc003kha.2	+	3	654	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.E30K	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	202					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCAAGAAGACGAAGATCCAGA	0.428000														80			35		0	0	1	0	0
C1orf187	374946	broad.mit.edu	37	1	11766354	11766354	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11766354C>T	uc001asr.1	+	1	179	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	Homo sapiens chromosome 1 open reading frame 187 (C1orf187), mRNA.	13					Wnt receptor signaling pathway|axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway	extracellular region				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(2)	15	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		CCATGCTGTTCCTCGTCCTCC	0.652000														22			10		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415765	19415765	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19415765C>T	uc010tcj.1	-	0		c.30345G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTGGGTTAATCTGTCAGCAGC	0.343000														58			18		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33577900	33577900	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33577900G>A	uc002xbi.2	+	20	2294	c.1977G>A	c.(1975-1977)caG>caA	p.Q659Q	MIR499A_uc021wcg.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	617	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity	p.Q659H(2)|p.Q659K(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGAAGTCACAGAATAGGCTCC	0.547000														103			55		0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197890485	197890486	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197890485_197890486GG>AA	uc001guk.1	+	2	866_867	c.429_430GG>AA	c.(427-432)tcggag>tcAAag	p.E144K	LHX9_uc001gui.1_Missense_Mutation_p.E135K	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	144	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.E144*(2)|p.E135*(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TTTCCGCCTCGGAGATGGTCAT	0.574000														64			24		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060664	9060664	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9060664C>T	uc002mkp.3	-	2	26986	c.26782G>A	c.(26782-26784)Gag>Aag	p.E8928K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8930	Ser-rich.|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						GCCTCTGTCTCCATGGTGGCT	0.488000														184			63		0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24669185	24669185	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24669185G>A	uc021oiw.1	+	10	1437	c.1207_splice	c.e10-1	p.G403_splice	GRHL3_uc001bix.3_Splice_Site_p.G403_splice|GRHL3_uc021oix.1_Splice_Site_p.G357_splice|GRHL3_uc001biy.3_Splice_Site_p.G408_splice|GRHL3_uc001biz.3_Splice_Site_p.G310_splice	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	403					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCCCTGCAGGGAGCTGAGAGG	0.587000														112			39		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057917	63057917	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63057917C>T	uc009yor.3	+	0	488	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.P42S	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	94						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTTGTCCATCCCCAGTGGCA	0.488000														112			57		0	0	1	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107019899	107019899	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:107019899C>T	uc003prj.3	-	8	1640	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	RTN4IP1_uc010kdd.3_3'UTR|RTN4IP1_uc003prk.3_Missense_Mutation_p.R288Q	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	Homo sapiens reticulon 4 interacting protein 1 (RTN4IP1), nuclear gene encoding mitochondrial protein, mRNA.	388						mitochondrion	oxidoreductase activity|zinc ion binding	p.A387T(1)		breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		AGTCTTTCCTCGTGCGTGTCC	0.383000														34			22		0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42754799	42754799	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42754799C>T	uc003cly.4	-	13	1812	c.1728G>A	c.(1726-1728)gaG>gaA	p.E576E		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	576										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TGCTGTTGCTCTCCTCCACCC	0.612000														117			12		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169484792	169484792	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169484792C>T	uc001ggg.1	-	23	6563	c.6418G>A	c.(6418-6420)Ggc>Agc	p.G2140S		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	2140	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GACTTGCAGCCCTGTGTTATA	0.398000														126			46		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50964978	50964978	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50964978G>A	uc009xog.3	-	1	334	c.300C>T	c.(298-300)ttC>ttT	p.F100F	OGDHL_uc001jie.3_Silent_p.F73F|OGDHL_uc010qgt.2_Intron|OGDHL_uc010qgu.2_Intron|OGDHL_uc009xoh.2_5'UTR	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	73					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CTTCCCTGAAGAAGCTGTCCC	0.612000														61			17		0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40030920	40030920	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:40030920G>A	uc001cdl.2	-	7	2001	c.1103C>T	c.(1102-1104)gCc>gTc	p.A368V	PABPC4_uc010oiv.1_Missense_Mutation_p.A368V|PABPC4_uc001cdm.2_Missense_Mutation_p.A368V	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	368	RRM 4.				RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTTCCTCTGGGCCAGGGCAAC	0.498000														50			5		0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67402484	67402484	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67402484G>A	uc001omp.3	-	1	346	c.258C>T	c.(256-258)atC>atT	p.I86I		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	86					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						CCTTGGTGACGATCATCTCAG	0.647000														30			14		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20150048	20150048	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:20150048C>T	uc002wru.3	+	12	1443	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	C20orf26_uc010zse.2_Silent_p.F423F|C20orf26_uc010zsf.1_Silent_p.F443F	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	443										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)		TGGTCCCTTTCAACACCTGCA	0.473000														92			31		0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1240646	1240646	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1240646G>A	uc003jby.2	+	7	969	c.846_splice	c.e7-1	p.R282_splice		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	282					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.R282R(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTGTGCCCAGGAATGACTGCC	0.587000														36			21		0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39755530	39755530	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:39755530G>A	uc010gnw.3	-	11	1551	c.1256C>T	c.(1255-1257)cCc>cTc	p.P419L	ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Missense_Mutation_p.P412L|ERG_uc011aek.2_Missense_Mutation_p.P320L|ERG_uc010gnv.3_Missense_Mutation_p.P296L|ERG_uc010gnx.3_Missense_Mutation_p.P395L|ERG_uc011ael.2_Missense_Mutation_p.P419L|ERG_uc002yxb.3_Missense_Mutation_p.P395L	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	419					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				GAGGTCTGAGGGGTACTTGTA	0.607000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									80			24		0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121652342	121652342	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:121652342C>T	uc001leu.2	+	0	258	c.48C>T	c.(46-48)tcC>tcT	p.S16S	SEC23IP_uc010qtc.2_5'UTR	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	16	Interaction with SEC23A.				Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CCTCCACTTCCTCATCGGGCA	0.627000														32			8		0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31608171	31608171	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31608171T>G	uc002wyj.3	+	11	1312	c.1118T>G	c.(1117-1119)gTg>gGg	p.V373G		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	373						extracellular region	lipid binding										GTGTCCAAGGTGAAGCTTCAG	0.612000														61			17		0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13695737	13695737	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:13695737G>A	uc002woj.3	-	13	2448	c.2340C>T	c.(2338-2340)ttC>ttT	p.F780F		NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	780	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTGTTTTCTTGAAATTGGGAT	0.388000														106			42		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662562	662562	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:662562C>T	uc001qii.1	+	13	1473	c.1473C>T	c.(1471-1473)tcC>tcT	p.S491S	B4GALNT3_uc001qij.1_Silent_p.S394S|B4GALNT3_uc001qik.1_Silent_p.S40S	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	491						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCCCTTCTCCAAGCGGAACT	0.642000														91			9		0	0	1	0	0
ATL1	51062	broad.mit.edu	37	14	51054653	51054653	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:51054653G>A	uc021rsw.1	+	1	380	c.139G>A	c.(139-141)Gag>Aag	p.E47K	ATL1_uc001wyd.4_Missense_Mutation_p.E47K|ATL1_uc001wyf.4_Missense_Mutation_p.E47K|ATL1_uc001wye.4_Missense_Mutation_p.E47K|ATL1_uc021rsx.1_Missense_Mutation_p.E47K	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	47					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CCATTCCTTTGAGTTAGATGA	0.438000														139			57		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33473940	33473940	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:33473940C>T	uc003zsz.3	-	1	1	c.-100_splice	c.e1-1		NOL6_uc003zta.3_Splice_Site|NOL6_uc010mjv.3_Splice_Site|NOL6_uc011lob.2_Splice_Site|NOL6_uc003ztb.1_Splice_Site	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.						rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGCCCAAGTCCAGCCCACCCC	0.577000														11			6		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7242035	7242035	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7242035G>A	uc010sfy.2	-	4	681	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	C1R_uc010sfz.1_Silent_p.L222L|C1R_uc021quh.1_Silent_p.L97L|C1R_uc010sga.1_Silent_p.L174L	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	208	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	GGGTACTCCAGGCTGGAGATG	0.632000														15			23		0	0	1	0	0
LIM2	3982	broad.mit.edu	37	19	51890686	51890686	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51890686G>A	uc002pwl.2	-	1	56	c.12C>T	c.(10-12)ttC>ttT	p.F4F	LIM2_uc002pwm.2_Silent_p.F4F	NM_030657	NP_085915	P55344	LMIP_HUMAN	Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA.	4					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CACCACCCATGAAGCTGTACA	0.607000														45			20		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398676	89398676	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89398676C>T	uc010upo.1	+	11	3234	c.2860C>T	c.(2860-2862)Ctc>Ttc	p.L954F	ACAN_uc010upp.1_Missense_Mutation_p.L954F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	954					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)			AGTTGGGGATCTCAGTGGACT	0.557000														108			75		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56094424	56094424	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:56094424C>T	uc010giw.1	-	3	875	c.764G>A	c.(763-765)gGa>gAa	p.G255E	CTCFL_uc010gix.1_Missense_Mutation_p.G255E|CTCFL_uc002xym.2_Missense_Mutation_p.G255E|CTCFL_uc010gjb.1_Missense_Mutation_p.G255E|CTCFL_uc010gja.1_Missense_Mutation_p.G255E|CTCFL_uc010gjc.1_Missense_Mutation_p.G255E|CTCFL_uc010gjd.1_Missense_Mutation_p.G255E|CTCFL_uc010gje.3_Missense_Mutation_p.G255E|CTCFL_uc010gjg.3_5'UTR|CTCFL_uc010gjf.3_Missense_Mutation_p.G50E|CTCFL_uc010gjh.2_Missense_Mutation_p.G255E|CTCFL_uc010gji.2_Missense_Mutation_p.G50E|CTCFL_uc010gjj.2_Missense_Mutation_p.G255E|CTCFL_uc021wfe.1_Missense_Mutation_p.G255E|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_5'UTR|CTCFL_uc010gjk.1_Missense_Mutation_p.G255E|CTCFL_uc010gjl.1_Missense_Mutation_p.G255E	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	255					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GTGGAAGGTTCCTTTTGCTCC	0.378000														137			63		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169697037	169697037	+	Silent	SNP	C	T	T	rs144324234	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169697037C>T	uc001ggm.4	-	8	1468	c.1311G>A	c.(1309-1311)ccG>ccA	p.P437P	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	437	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CCAAACCCTTCGGGGGCTGGT	0.488000														90			29		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94711930	94711930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94711930G>A	uc001ycs.1	+	12	1505	c.1351G>A	c.(1351-1353)Gat>Aat	p.D451N		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	451						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AAAGGTACTAGATGCTCTTAT	0.308000														66			23		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100385647	100385647	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100385647C>T	uc003uwj.3	+	38	7278	c.7113C>T	c.(7111-7113)ctC>ctT	p.L2371L	ZAN_uc003uwk.3_Silent_p.L2371L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.L422L	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2372	VWFD 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGCCCCTCCTCGTGGAAGGAC	0.557000														52			19		0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661548	36661548	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:36661548G>A	uc003ape.3	+	6	988	c.714G>A	c.(712-714)ggG>ggA	p.G238G	APOL1_uc011amn.1_Silent_p.G99G|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Silent_p.G99G|APOL1_uc003apf.3_Silent_p.G222G|APOL1_uc011amp.2_Silent_p.G222G|APOL1_uc011amq.2_Silent_p.G204G|APOL1_uc010gwx.3_Silent_p.G99G	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	222					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTTTGACCGGGATTACCAGCA	0.557000														99			24		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169183279	169183279	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169183279C>T	uc003irp.3	-	24	3437	c.3145_splice	c.e24-1	p.E1049_splice		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1049							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)		GGGCACAGTTCCTTGAAAACA	0.308000														43			18		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13870920	13870920	+	Silent	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13870920T>G	uc003jfd.2	-	23	3832	c.3790A>C	c.(3790-3792)Agg>Cgg	p.R1264R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1264	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I1263V(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCTCCTCCCTTATTTCTTTC	0.328000									Kartagener syndrome					57			16		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678659	100678659	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100678659C>T	uc003uxp.1	+	2	4015	c.3962C>T	c.(3961-3963)cCt>cTt	p.P1321L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1321	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTCCTACACCTGCTGAAGGT	0.473000														445			111		0	0	1	0	0
LOC338651	338651	broad.mit.edu	37	11	1619373	1619373	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1619373C>T	uc009ycx.1	+	1	1224	c.473C>T	c.(472-474)cCc>cTc	p.P158L	MOB2_uc001ltq.2_Intron|LOC338651_uc001ltt.1_Non-coding_Transcript|KRTAP5-2_uc001ltv.3_Silent_p.G36G					Homo sapiens uncharacterized LOC338651 (LOC338651), non-coding RNA.																		AGCCACAGCCCCCACGGCCGG	0.687000														71			33		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1427378	1427378	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:1427378G>A	uc003boz.3	+	19	2868	c.2601G>A	c.(2599-2601)acG>acA	p.T867T	CNTN6_uc011asj.2_Silent_p.T795T|CNTN6_uc003bpa.3_Silent_p.T867T	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	867	Fibronectin type-III 3.				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)		AAAACATCACGGGGCTGAAAG	0.428000														128			50		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883384	228883384	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228883384C>T	uc002vpq.2	-	6	2233	c.2186G>A	c.(2185-2187)cGg>cAg	p.R729Q	SPHKAP_uc002vpp.2_Missense_Mutation_p.R729Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.R729Q	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	729						cytoplasm	protein binding	p.R729W(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCACCAAGCCGTACAATATG	0.453000														123			39		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6180466	6180466	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6180466G>A	uc001qnn.1	-	9	1403	c.1153C>T	c.(1153-1155)Cca>Tca	p.P385S	VWF_uc010set.1_Missense_Mutation_p.P385S	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	385					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CGCCTACCTGGACATTCTTCA	0.542000														35			16		0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203025996	203025996	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203025996C>T	uc009xaj.3	+	23	2700	c.2700C>T	c.(2698-2700)atC>atT	p.I900I	PPFIA4_uc010pqf.2_Silent_p.I482I|PPFIA4_uc001gyz.3_Silent_p.I269I|PPFIA4_uc001gza.3_Silent_p.I269I|PPFIA4_uc001gzb.1_5'UTR			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	269					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GCAAGGGCATCAAGTCGTCCA	0.617000														35			12		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58155425	58155425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58155425C>T	uc003djj.2	+	44	7691	c.7526C>T	c.(7525-7527)tCc>tTc	p.S2509F	FLNB_uc010hne.2_Missense_Mutation_p.S2540F|FLNB_uc003djk.2_Missense_Mutation_p.S2498F|FLNB_uc010hnf.2_Missense_Mutation_p.S2485F|FLNB_uc003djl.2_Missense_Mutation_p.S2329F|FLNB_uc003djm.2_Missense_Mutation_p.S2316F|BC041347_uc003djn.3_Intron	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2509	Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail (By similarity).				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCAAGGCATCCTCGGACGCC	0.582000														89			40		0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55610167	55610167	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55610167G>A	uc002qix.3	-	5	952	c.936C>T	c.(934-936)gcC>gcT	p.A312A	PPP1R12C_uc010yfs.2_Silent_p.A238A|PPP1R12C_uc002qiy.3_Silent_p.A312A	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	312						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCTGTTTCCGGGCCAGTTCCT	0.637000														51			19		0	0	1	0	0
PDK2	5164	broad.mit.edu	37	17	48182768	48182768	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48182768C>T	uc002iqc.3	+	2	455	c.294C>T	c.(292-294)ttC>ttT	p.F98F	PDK2_uc002iqb.3_Silent_p.F34F|PDK2_uc021tzw.1_Silent_p.F98F|PDK2_uc021tzx.1_Silent_p.F34F	NM_002611	NP_001186828	Q15119	PDK2_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 2 (PDK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	98					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						TCATGGAGTTCCTGGACAAGG	0.637000									Autosomal Dominant Polycystic Kidney Disease					23			10		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108010940	108010940	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:108010940C>T	uc001tmk.1	+	7	2597	c.2076C>T	c.(2074-2076)ctC>ctT	p.L692L	BTBD11_uc009zut.1_Silent_p.L692L|BTBD11_uc001tmj.3_Silent_p.L692L|BTBD11_uc001tml.1_Silent_p.L229L	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	692						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAACACCCCTCCAGCTGGCAG	0.587000														106			17		0	0	1	0	0
C18orf25	147339	broad.mit.edu	37	18	43796275	43796276	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:43796275_43796276CC>TT	uc002lbw.3	+	1	808_809	c.429_430CC>TT	c.(427-432)tcccga>tcTTga	p.R144*	C18orf25_uc002lbx.3_Nonsense_Mutation_p.R144*	NM_145055	NP_659492	Q96B23	CR025_HUMAN	Homo sapiens chromosome 18 open reading frame 25 (C18orf25), transcript variant 1, mRNA.	144										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						CTAGGCGGTCCCGATCTGAAAG	0.535000														100			7		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117072882	117072882	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117072882C>T	uc011lxl.2	+	60	5490	c.5490C>T	c.(5488-5490)ccC>ccT	p.P1830P	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_Silent_p.P145P	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1830	Fibrillar collagen NC1.				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						CCCAAGACCCCCAACAGCTGC	0.557000														77			10		0	0	1	0	0
EMID2	136227	broad.mit.edu	37	7	101183219	101183219	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:101183219G>A	uc010lhy.1	+	4	679	c.487G>A	c.(487-489)Gac>Aac	p.D163N	EMID2_uc003uyo.1_Missense_Mutation_p.D165N	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	Homo sapiens EMI domain containing 2 (EMID2), mRNA.	165						collagen				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	18	Lung NSC(181;0.215)					CCCGGACAACGACCTGCCAGC	0.632000														43			12		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32259443	32259443	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32259443C>T	uc001bts.1	-	11	2497	c.2439G>A	c.(2437-2439)ggG>ggA	p.G813G	SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btu.3_Silent_p.G813G|SPOCD1_uc001btv.3_Silent_p.G306G|SPOCD1_uc021oks.1_Silent_p.G118G	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	813					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGATATTGTCCCCGCAGCTCT	0.577000														185			55		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870051	4870051	+	Missense_Mutation	SNP	G	A	A	rs139421041		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4870051G>A	uc010qyo.2	-	0	388	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R130W(2)|p.R130R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCAGTGCCCGATCAATGGAC	0.522000														99			45		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929987	121929987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:121929987C>T	uc004bkc.2	-	7	2117	c.1661G>A	c.(1660-1662)aGc>aAc	p.S554N		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	554					cell cycle arrest|cell death	cytoplasm	protein binding			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						GTCCAGGCTGCTGTTGCGCAT	0.567000														34			10		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066136	23066136	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:23066136C>T	uc002wsv.3	-	0	842	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	232					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTCTGAGTCTCGTCCTTGTCA	0.597000														129			47		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2376115	2376115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2376115G>A	uc002cpy.1	-	4	927	c.215C>T	c.(214-216)cCt>cTt	p.P72L	ABCA3_uc010bsk.1_Missense_Mutation_p.P72L|ABCA3_uc010bsl.1_Missense_Mutation_p.P72L|ABCA3_uc002cpz.1_Missense_Mutation_p.P72L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	72					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TCCTGGCGGAGGGAAGGTGAA	0.577000														50			10		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38949934	38949934	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38949934G>A	uc002oit.3	+	18	2446	c.2316G>A	c.(2314-2316)ctG>ctA	p.L772L	RYR1_uc002oiu.3_Silent_p.L772L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	772	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTTCAACCTGGACGGGCTCT	0.602000														46			14		0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17462538	17462538	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:17462538G>A	uc002wpm.3	+	11	2094	c.1740G>A	c.(1738-1740)caG>caA	p.Q580Q	PCSK2_uc002wpl.3_Silent_p.Q561Q|PCSK2_uc010zrm.2_Silent_p.Q545Q|PCSK2_uc002wpn.3_Silent_p.Q234Q	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	580					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCGCCCCGCAGAAGGGGGTGC	0.617000														28			9		0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26484791	26484791	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:26484791C>T	uc003gse.1	-	3	894	c.741G>A	c.(739-741)aaG>aaA	p.K247K		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	247					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TAGCAGACTTCTTCTGGCTAG	0.373000														140			53		0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76780412	76780412	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:76780412G>A	uc001sye.1	-	12	1861	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	OSBPL8_uc001syf.1_Missense_Mutation_p.R419C|OSBPL8_uc001syg.1_Missense_Mutation_p.R419C|OSBPL8_uc001syh.1_Missense_Mutation_p.R436C	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	Homo sapiens oxysterol binding protein-like 8 (OSBPL8), transcript variant 1, mRNA.	461					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTCTTCAAACGGAAATAAGGA	0.274000														121			13		0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7329010	7329010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7329010G>A	uc002ggw.3	+	0	76	c.3G>A	c.(1-3)atG>atA	p.M1I	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	1						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCCCCTCCATGGAAAACCAGC	0.607000														62			7		0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991299	21991299	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:21991299C>T	uc002nqj.3	-	3	1670	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	ZNF43_uc002nql.3_Missense_Mutation_p.E508K|ZNF43_uc002nqm.3_Missense_Mutation_p.E508K|ZNF43_uc010ecv.3_Missense_Mutation_p.E508K|ZNF43_uc002nqk.3_Missense_Mutation_p.E444K	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTGCCACATTCTTCACATTTG	0.373000														107			23		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131519662	131519662	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:131519662G>A	uc021voy.1	+	0	17	c.17G>A	c.(16-18)gGa>gAa	p.G6E	FAM123C_uc002trw.2_Missense_Mutation_p.G6E|FAM123C_uc010fmv.2_Missense_Mutation_p.G6E|FAM123C_uc010fms.1_Missense_Mutation_p.G6E|FAM123C_uc010fmt.1_Missense_Mutation_p.G6E|FAM123C_uc010fmu.1_Missense_Mutation_p.G6E	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	6										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CTGAAGAGAGGAAAGACCTTC	0.622000														16			3		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117639386	117639386	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:117639386C>T	uc003pxp.1	-	36	6169	c.5970G>A	c.(5968-5970)gaG>gaA	p.E1990E	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Silent_p.E316E	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1990	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATTCAATCTTCTCCTGGTCTG	0.393000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									29			24		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72351061	72351061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72351061C>T	uc002jkm.4	+	18	2985	c.2847C>T	c.(2845-2847)ctC>ctT	p.L949L		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	949					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AAGTCAAACTCCCTCCAAGCC	0.612000														7			3		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117825450	117825450	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117825450C>T	uc004bjj.4	-	12	4191	c.3779G>A	c.(3778-3780)gGa>gAa	p.G1260E	TNC_uc010mvf.3_Missense_Mutation_p.G1260E|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1260	Fibronectin type-III 8.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGTGAGGTTTCCCATATCTGG	0.493000														33			14		0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34018827	34018827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:34018827G>A	uc002yqh.2	-	23	3240	c.3240C>T	c.(3238-3240)tcC>tcT	p.S1080S	SYNJ1_uc011ads.1_Silent_p.S1036S|SYNJ1_uc002yqf.2_Silent_p.S1041S|SYNJ1_uc002yqg.2_Silent_p.S1036S|SYNJ1_uc002yqi.2_Silent_p.S1080S	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1041	Pro-rich.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AAGAGCTGGGGGAAGTACCAA	0.522000														106			6		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96447569	96447569	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96447569C>T	uc001kjv.4	+	1	537	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	CYP2C19_uc001kjw.4_Silent_p.L71L|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.2_5'Flank	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	71					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.L71L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GTATTTTGGCCTGAAGCCCAT	0.418000														249			29		0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549183	158549183	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158549183G>A	uc010pin.2	-	0	507	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F169F(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GAGAGATAAAGAAGCCTGCAG	0.468000														35			17		0	0	1	0	0
SOST	50964	broad.mit.edu	37	17	41836020	41836020	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:41836020C>T	uc002iec.1	-	0	137	c.90G>A	c.(88-90)aaG>aaA	p.K30K		NM_025237	NP_079513	Q9BQB4	SOST_HUMAN	Homo sapiens sclerostin (SOST), mRNA.	30					Wnt receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly		heparin binding|protein binding			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		TGGCATCATTCTTGAACGCCT	0.622000														36			34		0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121613	50121613	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50121613C>T	uc001jhd.3	-	0	668	c.588G>A	c.(586-588)gaG>gaA	p.E196E	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.E196E	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	196						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CATACAAGTTCTCCAGCCTCC	0.493000														83			35		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3740659	3740659	+	Missense_Mutation	SNP	C	T	T	rs144286949		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3740659C>T	uc010xhv.2	+	12	1840	c.1840C>T	c.(1840-1842)Cgt>Tgt	p.R614C	TJP3_uc010xhs.2_Missense_Mutation_p.R581C|TJP3_uc010xht.2_Missense_Mutation_p.R545C|TJP3_uc010xhu.2_Missense_Mutation_p.R590C|TJP3_uc010xhw.2_Missense_Mutation_p.R600C	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	595	Guanylate kinase-like.					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)		GCGGGGTCTTCGTCGAGGAGC	0.692000														18			12		0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202593359	202593359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:202593359G>A	uc002uyo.3	-	14	3073	c.2717C>T	c.(2716-2718)tCc>tTc	p.S906F	ALS2_uc002uyp.4_Missense_Mutation_p.S906F|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	906	PH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CTTCCTCAAGGAATCCTGGAA	0.383000														54			24		0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177632728	177632728	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:177632728C>T	uc003ius.1	-	3	1059	c.629G>A	c.(628-630)cGa>cAa	p.R210Q		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	210					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		AGACATGCATCGGCAGGAAGT	0.393000														130			10		0	0	1	0	0
ZNF645	158506	broad.mit.edu	37	X	22292286	22292286	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:22292286G>A	uc004dai.2	+	0	1257	c.1178G>A	c.(1177-1179)tGg>tAg	p.W393*		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	Homo sapiens zinc finger protein 645 (ZNF645), mRNA.	393						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGGCCTGCATGGAAACGACTG	0.448000														39			25		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3730080	3730080	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3730080C>T	uc010xhv.2	+	2	270	c.270C>T	c.(268-270)tcC>tcT	p.S90S	TJP3_uc010xhs.2_Silent_p.S71S|TJP3_uc010xht.2_Silent_p.S35S|TJP3_uc010xhu.2_Silent_p.S80S|TJP3_uc010xhw.2_Silent_p.S90S	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	71	PDZ 1.					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)		ATGCCACCTCCGCGTTTGCCA	0.597000														100			34		0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130319507	130319507	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:130319507C>T	uc010scd.2	+	0	639	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	213					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCAAGCGTTTCGTGTCTATCC	0.667000														6			7		0	0	1	0	0
CCT3	7203	broad.mit.edu	37	1	156294849	156294849	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156294849G>A	uc001fol.2	-	5	567	c.336C>T	c.(334-336)ttC>ttT	p.F112F	CCT3_uc010phj.2_Silent_p.F66F|CCT3_uc010phk.2_Silent_p.F66F|CCT3_uc001fon.2_Silent_p.F74F|CCT3_uc010phl.2_Silent_p.F66F	NM_005998	NP_005989	P49368	TCPG_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 3 (gamma) (CCT3), transcript variant 1, mRNA.	112					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GCTGCTCCAGGAAGTGCTCAG	0.428000														69			15		0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77419463	77419463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:77419463G>A	uc001sym.4	-	11	2676	c.2440C>T	c.(2440-2442)Cct>Tct	p.P814S	E2F7_uc009zse.3_Intron	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	Homo sapiens E2F transcription factor 7 (E2F7), mRNA.	814					cell cycle	transcription factor complex	DNA binding|identical protein binding	p.P814S(3)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TGAAGCTGAGGGTCTGCAGAA	0.537000														61			37		0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81095509	81095509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:81095509C>T	uc002fgc.4	-	3	704	c.445G>A	c.(445-447)Gac>Aac	p.D149N	C16orf46_uc010chf.3_Missense_Mutation_p.D149N|C16orf46_uc010vno.2_5'UTR	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	149								p.D149G(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						AAGCAGATGTCGCTAATTGCC	0.557000														229			55		0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101816796	101816796	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:101816796C>T	uc001kql.2	-	5	1245	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	329	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.R328L(1)|p.R328W(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ATTAGGGCTTCCCGATTACCC	0.463000														252			82		0	0	1	0	0
RNF125	54941	broad.mit.edu	37	18	29645969	29645969	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29645969C>T	uc002kxf.1	+	4	991	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_017831	NP_060301	Q96EQ8	RN125_HUMAN	Homo sapiens ring finger protein 125 (RNF125), mRNA.	203					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						ATGATGATTTCATAGTAAGTA	0.328000														82			34		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74640336	74640336	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74640336G>A	uc002axt.2	-	1	485	c.330C>T	c.(328-330)ctC>ctT	p.L110L	CYP11A1_uc002axs.2_5'UTR|CYP11A1_uc010bjm.1_Intron|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.3_Silent_p.L110L	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	110					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CGGACTTAAAGAGAAGGGCCA	0.577000														66			14		0	0	1	0	0
ZNF549	256051	broad.mit.edu	37	19	58049491	58049491	+	Silent	SNP	C	T	T	rs138206012		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58049491C>T	uc002qpb.2	+	3	1368	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S	ZNF549_uc002qpa.2_Silent_p.S360S	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTATTCATTCCTATGACCGCA	0.443000														59			24		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61028342	61028342	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61028342C>T	uc010qif.1	-	7	1045	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	FAM13C_uc010qid.2_Missense_Mutation_p.E222K|FAM13C_uc001jkn.3_Missense_Mutation_p.E305K|FAM13C_uc001jko.3_Missense_Mutation_p.E305K|FAM13C_uc010qie.2_Missense_Mutation_p.E222K|FAM13C_uc001jkp.3_Missense_Mutation_p.E222K	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	305										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCAAATTTTTCTTCAAATTTC	0.493000														55			19		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99640764	99640764	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:99640764C>T	uc001yga.3	-	3	2676	c.2409G>A	c.(2407-2409)aaG>aaA	p.K803K	BCL11B_uc001ygb.3_Silent_p.K732K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	803						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TCTTGAACACCTTGCCGCAGT	0.711000			T	TLX3	T-ALL									19			4		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55272965	55272965	+	Silent	SNP	C	T	T	rs143770509		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55272965C>T	uc003tqk.3	+	27	3534	c.3288C>T	c.(3286-3288)tcC>tcT	p.S1096S	EGFR_uc022adn.1_Silent_p.S1051S|EGFR_uc011kco.2_Silent_p.S1043S	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	1096					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TAAACCAGTCCGTTCCCAAAA	0.527000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				43			11		0	0	1	0	0
UBR3	130507	broad.mit.edu	37	2	170897468	170897468	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170897468T>C	uc010zdi.2	+	31	4633	c.4633T>C	c.(4633-4635)Tta>Cta	p.L1545L	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_Silent_p.L366L|UBR3_uc002uft.4_Silent_p.L402L|UBR3_uc010zdj.2_Silent_p.L236L|UBR3_uc002ufu.4_Silent_p.L51L	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1545					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CATCCAGATCTTAATGATGCC	0.328000														75			8		0	0	1	0	0
VWA1	64856	broad.mit.edu	37	1	1374575	1374575	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1374575C>T	uc001afs.3	+	2	972	c.746C>T	c.(745-747)cCc>cTc	p.P249L	VWA1_uc001afr.3_3'UTR	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	Homo sapiens von Willebrand factor A domain containing 1 (VWA1), transcript variant 1, mRNA.	249	Fibronectin type-III 1.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAGCTGGTGCCCAGCGCCCAG	0.701000														25			3		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983591	97983591	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:97983591G>A	uc003dsi.1	+	0	463	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TATGACCAATGAACTATGCAT	0.363000														103			44		0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72360181	72360181	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:72360181G>A	uc002sih.1	-	4	1117	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C	CYP26B1_uc010yra.1_Missense_Mutation_p.R356C|CYP26B1_uc010yrb.1_Missense_Mutation_p.R298C	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	373					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						AGCACAGTGCGGTAGCCGCCG	0.682000														54			21		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137642657	137642657	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:137642657G>A	uc004cfe.3	+	12	1973	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	531	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G530G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGTGGCGGCGATGCGGGCTC	0.637000														46			10		0	0	1	0	0
TRIM72	493829	broad.mit.edu	37	16	31232216	31232216	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31232216G>A	uc002ebn.2	+	5	1002	c.718_splice	c.e5-1	p.K240_splice		NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.	240					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						TCTCTCTCCAGAAATACTGCC	0.542000														103			36		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78071109	78071109	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:78071109C>T	uc010dht.3	+	18	3118	c.3087C>T	c.(3085-3087)tcC>tcT	p.S1029S	CCDC40_uc002jxm.4_Silent_p.S812S|CCDC40_uc002jxn.4_Silent_p.S425S	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	1029					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGAGCAGCTCCCTCCTAGAGA	0.562000														84			15		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35832673	35832673	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35832673C>T	uc010edt.3	+	8	1924	c.1840C>T	c.(1840-1842)Ctg>Ttg	p.L614L	CD22_uc010edu.3_Silent_p.L526L|CD22_uc010edv.3_Silent_p.L614L|CD22_uc002nzb.4_Silent_p.L437L|CD22_uc010xst.2_Silent_p.L442L|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	614	Ig-like C2-type 6.				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)	GAGTGCAACCCTGACCTGTGA	0.617000														46			14		0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225702558	225702558	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:225702558G>A	uc001hpc.1	-	6	1411	c.958C>T	c.(958-960)Cca>Tca	p.P320S	ENAH_uc021pju.1_Missense_Mutation_p.P270S|ENAH_uc001hpd.1_Missense_Mutation_p.P320S|ENAH_uc001hpb.1_5'UTR	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	320	Pro-rich.				T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		ggccctggtgggagtggtgga	0.592000														36			13		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906452	13906452	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:13906452G>A	uc001rbt.2	-	2	988	c.809C>T	c.(808-810)cCt>cTt	p.P270L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	270					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAACTCCGCAGGCACTGTGTC	0.547000														61			14		0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062985	194062985	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:194062985G>A	uc003fts.3	-	1	537	c.447C>T	c.(445-447)tcC>tcT	p.S149S	CPN2_uc021xix.1_Silent_p.S149S	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	149					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCAGGTGGAGGGACTCCAGGG	0.627000														30			15		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49219042	49219042	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:49219042G>A	uc010zyt.2	-	12	1477	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.S405F|FAM65C_uc002xvn.1_Missense_Mutation_p.S405F	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	405										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						AGAGCTGAAGGAGTCCATCTC	0.637000														67			20		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	169995191	169995191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169995191C>T	uc002ues.3	-	74	13627	c.13414G>A	c.(13414-13416)Gaa>Aaa	p.E4472K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4472					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTCCCATTTTCAGAGGGCTTG	0.418000														68			12		0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36117063	36117063	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:36117063C>T	uc003zyv.3	+	16	2228	c.2142C>T	c.(2140-2142)ctC>ctT	p.L714L	RECK_uc003zyw.3_Silent_p.L586L|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	714	Kazal-like 2.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CAAGACAGCTCGCGTGTGACC	0.458000														64			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179575593	179575593	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179575593C>T	uc021vsy.1	-	94	24724	c.24499G>A	c.(24499-24501)Gga>Aga	p.G8167R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4828R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9094	Ig-like 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S8166I(1)		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)			GCACTTTCTCCCACCACAGCA	0.512000														63			16		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21157616	21157616	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:21157616C>T	uc001iqi.3	-	6	1058	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	221					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTAGAAGCTTCCACGGCATGT	0.343000														198			21		0	0	1	0	0
KIAA1430	57587	broad.mit.edu	37	4	186111405	186111405	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:186111405C>T	uc003ixf.4	-	1	1093	c.946G>A	c.(946-948)Gag>Aag	p.E316K	KIAA1430_uc003ixg.3_Missense_Mutation_p.E316K	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	Homo sapiens KIAA1430 (KIAA1430), mRNA.	316								p.H315L(1)		endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		ACATCAGGCTCATGTTTTTCT	0.348000														27			8		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213314	21213314	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21213314C>T	uc010bwn.1	-	11	1517	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	ZP2_uc002dii.2_Missense_Mutation_p.E440K	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	440	ZP.				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)		GCATGTATTTCGTTTTCATAG	0.393000														113			32		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74007901	74007901	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74007901G>A	uc010wss.1	-	19	2814	c.2586C>T	c.(2584-2586)gcC>gcT	p.A862A	EVPL_uc002jqi.2_Silent_p.A840A|EVPL_uc010wst.1_Silent_p.A310A	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	840	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GTCTCTTGGGGGCTGACACTG	0.622000														30			12		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50249977	50249977	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50249977C>T	uc002ppm.3	-	5	753	c.742G>A	c.(742-744)Gag>Aag	p.E248K		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	248							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		tcctgcttctcctccggctcc	0.697000														15			7		0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58115674	58115674	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58115674C>T	uc002qpk.2	+	1	280	c.60C>T	c.(58-60)gcC>gcT	p.A20A	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_5'Flank	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGGATGTGGCCATTTACTTCT	0.507000														178			17		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12313759	12313759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:12313759C>T	uc001mkg.1	+	1	335	c.44C>T	c.(43-45)tCa>tTa	p.S15L		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	15	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcttccttcatcgtcttcc	0.488000														45			15		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77885578	77885578	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:77885578G>A	uc003ugx.3	-	9	1983	c.1729C>T	c.(1729-1731)Cag>Tag	p.Q577*	MAGI2_uc003ugy.3_Nonsense_Mutation_p.Q577*|MAGI2_uc010ldx.1_Nonsense_Mutation_p.Q186*|MAGI2_uc010ldy.1_Nonsense_Mutation_p.Q186*|MAGI2_uc011kgr.1_Nonsense_Mutation_p.Q409*|MAGI2_uc011kgs.1_Nonsense_Mutation_p.Q414*	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	577						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCGTCTAGCTGACCATCAGTT	0.488000														41			16		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28233854	28233854	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:28233854G>A	uc009xky.3	-	10	1522	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	ARMC4_uc010qds.2_5'UTR|ARMC4_uc010qdt.2_Missense_Mutation_p.S167L|ARMC4_uc001itz.3_Missense_Mutation_p.S475L|ARMC4_uc010qdu.1_Missense_Mutation_p.S167L	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	475							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATCCCTCATTGAACACAACGC	0.448000														82			42		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152366	133152366	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133152366C>T	uc003ytj.3	-	10	1750	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	KCNQ3_uc003yti.3_Missense_Mutation_p.E389K|KCNQ3_uc010mdt.3_Missense_Mutation_p.E509K	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	509					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATCATGTCTTCGATGGGGAAG	0.627000														57			17		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27167664	27167664	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27167664C>T	uc002rhu.4	+	11	1739	c.1581C>T	c.(1579-1581)gaC>gaT	p.D527D	DPYSL5_uc002rhv.4_Silent_p.D527D|DPYSL5_uc021vev.1_Silent_p.D527D	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	527					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATGAGGGACCTTCACGAAT	0.622000														69			28		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167240254	167240254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:167240254C>T	uc003fev.1	-	11	1871	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	WDR49_uc003feu.1_Missense_Mutation_p.E348K|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	523										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGGCAGTTTTCAATATGCCAG	0.313000														57			17		0	0	1	0	0
FTSJD1	55783	broad.mit.edu	37	16	71317926	71317926	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71317926G>A	uc021tkr.1	-	0	1898	c.1898C>T	c.(1897-1899)tCa>tTa	p.S633L	FTSJD1_uc010cga.3_Missense_Mutation_p.S633L|FTSJD1_uc002ezy.4_Missense_Mutation_p.S633L|FTSJD1_uc002ezz.4_Missense_Mutation_p.S633L	NM_018348	NP_060818	Q8IYT2	FTSJ1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA.	633						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCCCGCAATGAATGTAGAAG	0.403000														94			9		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49688217	49688217	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49688217C>T	uc003cxe.4	+	3	1805	c.1691C>T	c.(1690-1692)cCt>cTt	p.P564L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	564					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTGGGCCAGCCTTCAGGCCCC	0.687000														208			28		0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735154	55735154	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55735154C>T	uc010rit.2	-	0	786	c.786G>A	c.(784-786)ggG>ggA	p.G262G		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAATCAGTTTCCCCATCCTTT	0.373000														44			15		0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107491536	107491536	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:107491536C>T	uc010hpr.3	+	10	1295	c.968C>T	c.(967-969)tCc>tTc	p.S323F	BBX_uc003dwk.4_Missense_Mutation_p.S323F|BBX_uc003dwl.4_Intron|BBX_uc010hps.1_Missense_Mutation_p.S344F|BBX_uc003dwm.4_Missense_Mutation_p.S323F|BBX_uc003dwo.4_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GCAAAAGAATCCGATGGTGGA	0.348000														78			14		0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29555752	29555752	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29555752C>T	uc003nmr.1	+	0	70	c.31C>T	c.(31-33)Ctc>Ttc	p.L11F	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	11					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						ACCGGGCTTCCTCCTTCTGGG	0.512000														150			58		0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81095106	81095106	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:81095106G>A	uc002fgc.4	-	3	1107	c.848C>T	c.(847-849)tCc>tTc	p.S283F	C16orf46_uc010chf.3_Missense_Mutation_p.S283F|C16orf46_uc010vno.2_Missense_Mutation_p.S10F	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	283										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GGCCGCTGGGGAAGGGGAGGA	0.577000														186			44		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10971322	10971322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:10971322C>T	uc002yip.1	-	4	403	c.35G>A	c.(34-36)gGa>gAa	p.G12E	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.G12E|TPTE_uc002yir.1_Missense_Mutation_p.G12E|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	12					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.A11V(1)|p.A11A(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)		AATGATGACTCCCGCCAGGTC	0.453000														62			10		0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776016	5776016	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5776016C>T	uc001mbu.3	+	0	94	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TTCATTTATTCTGAATGGAGT	0.413000														59			27		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57864435	57864435	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57864435A>G	uc001snx.3	+	11	2006	c.1912A>G	c.(1912-1914)Agg>Ggg	p.R638G	GLI1_uc021qzi.1_Missense_Mutation_p.R597G|GLI1_uc009zpq.3_Missense_Mutation_p.R510G	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	638					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.R637Q(2)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGTCACCCGGAGGGCCAGTGA	0.622000														46			18		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196852768	196852768	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196852768G>A	uc002utj.4	-	12	1640	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	513	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GATTTTCTGCGAGGAAGTTAT	0.348000														41			25		0	0	1	0	0
TMEM40	55287	broad.mit.edu	37	3	12780058	12780058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:12780058C>T	uc011auv.1	-	5	600	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	TMEM40_uc003bxg.1_Missense_Mutation_p.E129K|TMEM40_uc003bxh.1_Missense_Mutation_p.E99K	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	Homo sapiens transmembrane protein 40 (TMEM40), mRNA.	129						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TCACCTGATTCCCCAGAGGGT	0.547000														102			36		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123908902	123908902	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123908902C>T	uc001pzq.1	-	0	807	c.807G>A	c.(805-807)ggG>ggA	p.G269G		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CGGCCACAACCCCATGCAAGG	0.512000														64			29		0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230224	56230224	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56230224G>A	uc010rjj.2	-	0	654	c.654C>T	c.(652-654)ctC>ctT	p.L218L	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CTACTACAATGAGAGTGTAGG	0.488000														24			6		0	0	1	0	0
TTC24	164118	broad.mit.edu	37	1	156554962	156554962	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156554962G>A	uc021pbf.1	+	7	1431	c.1395G>A	c.(1393-1395)caG>caA	p.Q465Q		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	Homo sapiens tetratricopeptide repeat domain 24 (TTC24), mRNA.	465							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGGCCACCAGAAGAAAAAAG	0.577000														29			20		0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101606801	101606801	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:101606801G>A	uc001kqf.2	+	29	4369	c.4230G>A	c.(4228-4230)ttG>ttA	p.L1410L		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	1410	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGAAGGCCTTGGAGCTGGCTC	0.517000														183			63		0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64882811	64882811	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64882811G>A	uc001ocv.3	+	5	1578	c.981G>A	c.(979-981)ggG>ggA	p.G327G	TM7SF2_uc001oct.3_Silent_p.G306G|TM7SF2_uc010rny.2_Silent_p.G190G|TM7SF2_uc001ocu.3_Intron|BC104003_uc009yqb.1_5'Flank	NM_003273	NP_003264	O76062	ERG24_HUMAN	Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA.	306					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTTCCGTGGGGCGAATTCCC	0.572000														115			46		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853810	122853810	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:122853810C>T	uc003ieg.2	-	1	677	c.603G>A	c.(601-603)gcG>gcA	p.A201A	TRPC3_uc010inr.2_Silent_p.A128A|TRPC3_uc003ief.2_Silent_p.A128A|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	116					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTTGCTGGCCGCGAAGCCAG	0.637000														35			7		0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39245969	39245969	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:39245969C>T	uc003gtv.3	+	21	2677	c.2523C>T	c.(2521-2523)gtC>gtT	p.V841V	WDR19_uc011byi.2_Silent_p.V681V|WDR19_uc003gtw.1_Silent_p.V438V	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	841					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CCAGCAGGGTCCTTAAAAGAG	0.428000														71			30		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50552915	50552915	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50552915C>T	uc003bjj.3	+	6	1073	c.990C>T	c.(988-990)ccC>ccT	p.P330P	MOV10L1_uc003bjk.4_Silent_p.P330P|MOV10L1_uc011arp.2_Silent_p.P310P|MOV10L1_uc011arq.1_Silent_p.P91P|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	330					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGATGTGCCCCGTGGTATCTT	0.383000														78			20		0	0	1	0	0
ACTR1A	10121	broad.mit.edu	37	10	104241922	104241922	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104241922G>A	uc001kvv.3	-	7	869	c.761C>T	c.(760-762)tCc>tTc	p.S254F	ACTR1A_uc010qqn.2_Missense_Mutation_p.S180F|ACTR1A_uc010qqo.2_Missense_Mutation_p.S207F	NM_005736	NP_005727	P61163	ACTZ_HUMAN	Homo sapiens ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) (ACTR1A), mRNA.	254					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCGGAATCGGGAAGGACCAAT	0.582000														114			35		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37000603	37000603	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:37000603C>T	uc003jkl.4	+	11	3932	c.3433C>T	c.(3433-3435)Cgt>Tgt	p.R1145C	NIPBL_uc003jkk.4_Missense_Mutation_p.R1145C	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1145					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGTGGTGGTCGTTATCGAAA	0.463000														110			18		0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013235	73013235	+	Silent	SNP	C	T	T	rs145038184	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:73013235C>T	uc003hgg.2	+	3	1373	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	NPFFR2_uc010iig.2_Silent_p.F207F|NPFFR2_uc003hgi.2_Silent_p.F326F|NPFFR2_uc003hgh.2_Silent_p.F323F	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	425					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GGCTGGCATTCGGCAACAGCA	0.463000														100			43		0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754787	167754787	+	Missense_Mutation	SNP	G	A	A	rs140708449		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:167754787G>A	uc003qvs.1	+	2	1487	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	467					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AATGTACAACGAGGATGACTC	0.498000														50			33		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38186485	38186485	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:38186485C>T	uc009vvi.3	-	11	2264	c.2178G>A	c.(2176-2178)atG>atA	p.M726I	EPHA10_uc001cbt.3_5'Flank|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	726	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCCATGGCTCATGTACTCGG	0.572000														49			30		0	0	1	0	0
SDC4	6385	broad.mit.edu	37	20	43956011	43956011	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43956011G>A	uc002xnu.3	-	4	530	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L	SDC4_uc010zws.2_Silent_p.L92L	NM_002999	NP_002990	P31431	SDC4_HUMAN	Homo sapiens syndecan 4 (SDC4), mRNA.	164						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				AGTAGGATCAGGAAGACGGCA	0.532000			T	ROS1	NSCLC									58			14		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114277055	114277055	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:114277055C>T	uc003ibe.4	+	37	7381	c.7281C>T	c.(7279-7281)gaC>gaT	p.D2427D	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.D2442D	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2394					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGCTGATGACTCATTAGCAG	0.502000														48			24		0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73721613	73721613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:73721613G>A	uc010ttx.2	+	12	1677	c.1514G>A	c.(1513-1515)cGg>cAg	p.R505Q	PAPLN_uc001xnw.4_Missense_Mutation_p.R478Q|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.R505Q	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	505	TSP type-1 5.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	p.R478Q(1)|p.R505Q(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TCGGGCACTCGGAGGCGACAG	0.657000														46			11		0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3834911	3834911	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3834911C>T	uc002lyw.2	-	1	136	c.124G>A	c.(124-126)Gac>Aac	p.D42N	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	42						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		ACGGCAGGGTCCATCCCAGGA	0.667000														9			6		0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38557331	38557331	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:38557331G>A	uc002huq.3	-	20	2594	c.2435C>T	c.(2434-2436)tCt>tTt	p.S812F	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	812					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TCGAGCCAAAGAGCTAAAGAA	0.308000														18			22		0	0	1	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74695422	74695422	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:74695422G>A	uc001jtf.1	-	3	608	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	PLA2G12B_uc009xqt.1_Nonsense_Mutation_p.Q91*|PLA2G12B_uc010qjz.1_Nonsense_Mutation_p.Q180*	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	Homo sapiens phospholipase A2, group XIIB (PLA2G12B), mRNA.	181					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					GCTGCCCGCTGACTATTCATA	0.507000														70			34		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40367775	40367775	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40367775G>A	uc002omp.4	-	28	13193	c.13185C>T	c.(13183-13185)ttC>ttT	p.F4395F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4395	TIL 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACTTAACACGAAACCCGCGT	0.657000														24			25		0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711559	20711559	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20711559C>T	uc010tld.2	+	0	609	c.609C>T	c.(607-609)ccC>ccT	p.P203P		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CCCCAGCTCCCATAACTGAAT	0.423000														185			80		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28647982	28647982	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28647982C>T	uc002kwl.4	-	15	3159	c.2705G>A	c.(2704-2706)tGa>tAa	p.*902*	DSC2_uc002kwk.4_3'UTR	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	0					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AGAACACACTCATCTCTTCAT	0.373000														47			9		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25264389	25264389	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25264389G>A	uc003abg.2	+	10	1198	c.1041G>A	c.(1039-1041)caG>caA	p.Q347Q	SGSM1_uc010guu.1_Silent_p.Q347Q|SGSM1_uc003abh.2_Silent_p.Q347Q|SGSM1_uc003abj.2_Silent_p.Q347Q|SGSM1_uc003abi.1_Silent_p.Q322Q	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	347	Required for interaction with RAP family members.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACGGGATCCAGAGGCCGCCCT	0.642000														53			24		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126132589	126132589	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:126132589C>T	uc004bnx.1	+	6	1349	c.1257C>T	c.(1255-1257)gtC>gtT	p.V419V	CRB2_uc004bnw.1_Silent_p.V419V	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	419	EGF-like 9.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AGTCTGGGGTCCACAGTTACG	0.622000														41			8		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699764	48699765	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48699764_48699765GG>AA	uc003cuf.1	-	2	513_514	c.513_514CC>TT	c.(511-516)ccccct>ccTTct	p.P172S	CELSR3_uc003cul.3_Missense_Mutation_p.P102S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	102					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCTGCTCAGGGGGCCCTCGAC	0.658000														160			65		0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32151349	32151349	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32151349G>A	uc001btk.1	-	28	2272	c.1907C>T	c.(1906-1908)cCa>cTa	p.P636L	COL16A1_uc001btj.1_Missense_Mutation_p.P465L|COL16A1_uc001btl.4_Missense_Mutation_p.P636L	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	636	Nonhelical region 7 (NC7).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGACAGGGCTGGGCACGGCTC	0.637000														201			50		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296383	29296383	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29296383C>T	uc002rmt.2	-	0	745	c.745G>A	c.(745-747)Gag>Aag	p.E249K		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	249					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GCCAGATCCTCCCTGACTTCC	0.552000														65			27		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210595030	210595031	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:210595030_210595031CC>AT	uc002vde.1	+	14	5641_5642	c.5393_5394CC>AT	c.(5392-5394)tcc>tAT	p.S1798Y	MAP2_uc002vdd.1_Missense_Mutation_p.S530Y|MAP2_uc002vdf.1_Missense_Mutation_p.S473Y|MAP2_uc002vdg.1_Missense_Mutation_p.S442Y|MAP2_uc002vdh.1_Missense_Mutation_p.S499Y|MAP2_uc002vdi.1_Missense_Mutation_p.S1794Y	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1798					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGCAATGTCTCCTCGTCTGGAA	0.545000														49			11		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207751310	207751310	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207751310C>T	uc001hfy.3	+	20	3488	c.3348C>T	c.(3346-3348)acC>acT	p.T1116T	CR1_uc009xcl.1_Silent_p.T666T|CR1_uc001hfx.3_Silent_p.T1566T|CR1_uc021pij.1_Silent_p.T1116T	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1116	Sushi 17.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TATACTGCACCAGCAATGACG	0.493000														119			53		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41694356	41694356	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:41694356C>T	uc003gvz.4	+	30	4750	c.4333C>T	c.(4333-4335)Cga>Tga	p.R1445*	LIMCH1_uc003gwe.4_Nonsense_Mutation_p.R958*|LIMCH1_uc003gvu.4_Nonsense_Mutation_p.R1061*|LIMCH1_uc003gvv.4_Nonsense_Mutation_p.R1035*|LIMCH1_uc003gvw.4_Nonsense_Mutation_p.R1034*|LIMCH1_uc003gvx.4_Nonsense_Mutation_p.R1047*|LIMCH1_uc003gvy.4_Nonsense_Mutation_p.R863*|LIMCH1_uc003gwa.4_Nonsense_Mutation_p.R875*|LIMCH1_uc011byu.2_Nonsense_Mutation_p.R894*|LIMCH1_uc003gwc.4_Nonsense_Mutation_p.R880*|LIMCH1_uc003gwd.4_Nonsense_Mutation_p.R868*|LIMCH1_uc011byv.2_Nonsense_Mutation_p.R811*|LIMCH1_uc011byw.2_Nonsense_Mutation_p.R334*|LIMCH1_uc010ifv.3_5'Flank	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	1061					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TGTTAGGATTCGAAATGGTCT	0.428000														68			13		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50752301	50752301	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50752301C>T	uc010enu.1	+	12	1434	c.1387C>T	c.(1387-1389)Ctg>Ttg	p.L463L	MYH14_uc002prq.1_Silent_p.L463L|MYH14_uc002prr.1_Silent_p.L455L	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	455	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTTCCGCTGGCTGGTTCTGCG	0.667000														18			6		0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151916	158151916	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158151916C>T	uc001frr.3	+	3	922	c.423C>T	c.(421-423)atC>atT	p.I141I	CD1D_uc009wsr.1_Silent_p.I141I|CD1D_uc009wss.3_Silent_p.I141I|CD1D_uc009wst.1_Silent_p.I37I	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	141					T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GAAAAGATATCCTGAGTTTCC	0.517000														185			109		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155533	22155533	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22155533T>C	uc021urr.1	-	3	2452	c.2303A>G	c.(2302-2304)aAg>aGg	p.K768R	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)				ATGAATTTTCTTATGATAACT	0.353000														59			16		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77476765	77476765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77476765G>A	uc011cbx.2	+	1	1125	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	58	PDZ.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAAGCAGGTCGAAGAAGGGGG	0.602000														44			14		0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89304376	89304376	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:89304376C>T	uc011cdi.2	+	1	386	c.203C>T	c.(202-204)cCa>cTa	p.P68L	HERC6_uc003hrp.1_Non-coding_Transcript|HERC6_uc011cdj.2_Missense_Mutation_p.P68L|HERC6_uc011cdk.2_Non-coding_Transcript|HERC6_uc011cdl.2_Non-coding_Transcript	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	Homo sapiens hect domain and RLD 6 (HERC6), transcript variant 1, mRNA.	68					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CCCAAAGAACCAATTCAGGCA	0.453000														13			3		0	0	1	0	0
DSCR4	10281	broad.mit.edu	37	21	39492501	39492501	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:39492501C>T	uc002ywp.3	-	2	234	c.129_splice	c.e2-1	p.R43_splice	DSCR8_uc002ywt.4_5'Flank|DSCR8_uc010gnp.3_5'Flank|DSCR8_uc010gnq.3_5'Flank|DSCR8_uc010gnr.3_5'Flank|DSCR8_uc010gns.3_5'Flank	NM_005867	NP_005858	P56555	DSCR4_HUMAN	Homo sapiens Down syndrome critical region gene 4 (DSCR4), mRNA.	43										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						attttttcttctctaggaaaa	0.413000														44			24		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158259858	158259858	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158259858C>T	uc001fru.3	+	0	296	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	2					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.M1L(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AAATGACATGCTGTTTCTGCA	0.438000														79			27		0	0	1	0	0
ATP8B5P	158381	broad.mit.edu	37	9	35449850	35449850	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35449850G>A	uc010mko.3	+	10		c.1260G>A			ATP8B5P_uc010mkp.3_Non-coding_Transcript|ATP8B5P_uc010mkn.2_Non-coding_Transcript|ATP8B5P_uc003zwu.2_Intron					Homo sapiens ATPase, class I, type 8B, member 5, pseudogene (ATP8B5P), transcript variant 2, non-coding RNA.																		ATGCTATAAAGAACATCTTCA	0.423000														34			10		0	0	1	0	0
SLC24A6	80024	broad.mit.edu	37	12	113754419	113754419	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113754419G>A	uc001tvc.3	-	9	1115	c.905C>T	c.(904-906)gCt>gTt	p.A302V	SLC24A6_uc001tuz.3_Missense_Mutation_p.A7V|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Missense_Mutation_p.A40V	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	302					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CAGGATCTGAGCCGTGGTCTC	0.577000														273			32		0	0	1	0	0
RASSF4	83937	broad.mit.edu	37	10	45484823	45484823	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:45484823G>A	uc001jbp.3	+	6	2275	c.726_splice	c.e6+1	p.R242_splice	RASSF4_uc001jbo.3_Splice_Site_p.R211_splice|RASSF4_uc009xmn.3_Splice_Site_p.R141_splice|RASSF4_uc001jbq.3_Splice_Site_p.R108_splice|RASSF4_uc001jbt.3_Splice_Site_p.R168_splice			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	211	Ras-associating.				cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACAAATTTAGGGTAAGCCTGG	0.577000														21			10		0	0	1	0	0
SF3A3	10946	broad.mit.edu	37	1	38435103	38435103	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:38435103G>A	uc001cci.3	-	13	1328	c.1204C>T	c.(1204-1206)Cta>Tta	p.L402L	SF3A3_uc010oik.2_Silent_p.L349L	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	Homo sapiens splicing factor 3a, subunit 3, 60kDa (SF3A3), mRNA.	402					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)				TTGATATTTAGGCCATGAAGC	0.398000														96			11		0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343086	130343086	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:130343086C>T	uc010scd.2	+	7	2223	c.2223C>T	c.(2221-2223)ttC>ttT	p.F741F		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	741	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		ACGGGCATTTCGTGGTGTCGG	0.637000														56			31		0	0	1	0	0
FCN3	8547	broad.mit.edu	37	1	27700886	27700886	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27700886G>A	uc001boa.3	-	1	154	c.148C>T	c.(148-150)Cca>Tca	p.P50S	FCN3_uc001bob.3_Missense_Mutation_p.P50S	NM_003665	NP_003656	O75636	FCN3_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen) (FCN3), transcript variant 1, mRNA.	50	Collagen-like.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGACTTCCTGGAGCTCCGGGA	0.617000														52			12		0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4855936	4855936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:4855936G>A	uc003snj.1	-	7	2062	c.1889C>T	c.(1888-1890)cCc>cTc	p.P630L	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_Missense_Mutation_p.P135L|RADIL_uc011jwc.1_Missense_Mutation_p.P390L|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	630	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGCCACCTCGGGGTGCACCTG	0.667000														14			7		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782829	54782829	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54782829G>A	uc002qfb.3	-	5	1059	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.R265C|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.R265C|LILRB2_uc010yet.2_Missense_Mutation_p.R149C|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	265	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGAGCTGGCGAAGGTCACGT	0.642000														85			16		0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156276982	156276982	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:156276982C>T	uc003ios.3	-	8	1440	c.1176G>A	c.(1174-1176)tcG>tcA	p.S392S	MAP9_uc011cin.2_Silent_p.S367S|MAP9_uc010iqa.1_Intron|MAP9_uc003iot.1_Silent_p.S391S	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	392					cell division|mitosis	cytoplasm|microtubule|spindle		p.S392*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AGGTAGTTGTCGATGGAGTTC	0.348000														50			8		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121228689	121228689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:121228689G>A	uc003yox.3	+	13	1962	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	COL14A1_uc003yoy.3_Missense_Mutation_p.R244Q|COL14A1_uc010mde.1_Missense_Mutation_p.R244Q	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	566	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATGGTTATCGAATTGTATAT	0.403000														91			37		0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16385458	16385458	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:16385458C>T	uc002wpg.2	-	17	1943	c.1784_splice	c.e17+1	p.G595_splice	KIF16B_uc010gch.2_Splice_Site_p.G595_splice|KIF16B_uc010gci.2_Splice_Site_p.G595_splice|KIF16B_uc010gcj.2_Splice_Site_p.G595_splice	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	595					Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GTTCACTCACCCGGGGTTATA	0.478000														29			10		0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69719813	69719813	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:69719813C>T	uc004dyi.2	+	15	2406	c.2059C>T	c.(2059-2061)Cag>Tag	p.Q687*	DLG3_uc004dyj.2_Nonsense_Mutation_p.Q382*|DLG3_uc011mpn.2_Nonsense_Mutation_p.Q236*	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	687	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GAAAGATATTCAGGACAACAA	0.488000														14			9		0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55183954	55183954	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:55183954C>T	uc010wnl.2	+	2	1411	c.1129C>T	c.(1129-1131)Cag>Tag	p.Q377*	AKAP1_uc002iux.3_Nonsense_Mutation_p.Q377*|AKAP1_uc021uak.1_Nonsense_Mutation_p.Q377*|AKAP1_uc010dcm.3_Nonsense_Mutation_p.Q377*|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	377					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TCGTGTGTGTCAGGCCAGTCA	0.577000														94			16		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846092	123846092	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:123846092G>A	uc001lfv.3	+	3	4437	c.4077G>A	c.(4075-4077)ggG>ggA	p.G1359G	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.G1359G|TACC2_uc010qtv.2_Silent_p.G1359G	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1359						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)				AGGCCAGTGGGGAGGGCATGG	0.622000														35			18		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3632689	3632689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3632689G>A	uc002cvp.2	-	14	5786	c.5159C>T	c.(5158-5160)tCc>tTc	p.S1720F		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1720	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.|Poly-Ser.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTCACAGGAGGAAGAACTGAA	0.592000								Direct reversal of damage						25			4		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702044	181702044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181702044C>T	uc009wxt.3	+	19	3017	c.2822C>T	c.(2821-2823)tCt>tTt	p.S941F	CACNA1E_uc001gow.3_Missense_Mutation_p.S941F|CACNA1E_uc009wxs.3_Missense_Mutation_p.S922F|CACNA1E_uc001gox.1_Missense_Mutation_p.S167F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	941					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						CGGAGCAGGTCTGCCAGCCAG	0.632000														91			38		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248437012	248437012	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248437012G>A	uc010pzi.2	-	0	105	c.105C>T	c.(103-105)acC>acT	p.T35T		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			CAAACAGGGAGGTCAAAACGA	0.488000														77			32		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671718	125671718	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:125671718G>A	uc010flu.3	+	23	4141	c.3777G>A	c.(3775-3777)atG>atA	p.M1259I	CNTNAP5_uc002tno.3_Missense_Mutation_p.M1258I	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1258					cell adhesion|signal transduction	integral to membrane	receptor binding	p.M1258I(2)|p.T1259T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCGGCATCATGACCCGGTTCC	0.453000														123			60		0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65417935	65417935	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65417935G>A	uc001ofb.2	+	14	3134	c.2967G>A	c.(2965-2967)caG>caA	p.Q989Q	SIPA1_uc010rom.1_Silent_p.Q887Q|SIPA1_uc001ofd.2_Silent_p.Q989Q	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	989					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GGAAGCTGCAGGAGGACCTGC	0.632000														53			15		0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16086016	16086016	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:16086016C>T	uc002rci.3	+	2	1492	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	MYCN_uc010yjr.2_Missense_Mutation_p.R398W	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	398	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CAACGACCTTCGGTCCAGCTT	0.567000			A		neuroblastoma									114			48		0	0	1	0	0
CDA	978	broad.mit.edu	37	1	20915648	20915649	+	Missense_Mutation	DNP	CC	TT	TT	rs140821931		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:20915648_20915649CC>TT	uc001bdk.3	+	0	205_206	c.26_27CC>TT	c.(25-27)acc>aTT	p.T9I	CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	NM_001785	NP_001776	P32320	CDD_HUMAN	Homo sapiens cytidine deaminase (CDA), mRNA.	9					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	CCTGCCTGCACCCTGAAGCCTG	0.658000														74			13		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38983185	38983185	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38983185C>T	uc002oit.3	+	37	6313	c.6183C>T	c.(6181-6183)agC>agT	p.S2061S	RYR1_uc002oiu.3_Silent_p.S2061S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2061	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTGGGCAGCCGCCTCATGA	0.542000														81			9		0	0	1	0	0
CABP2	51475	broad.mit.edu	37	11	67288529	67288529	+	Missense_Mutation	SNP	C	T	T	rs140767804	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67288529C>T	uc001ome.1	-	3	452	c.364G>A	c.(364-366)Gag>Aag	p.E122K	CABP2_uc001omc.1_Missense_Mutation_p.E116K			Q9NPB3	CABP2_HUMAN	Homo sapiens calcium binding protein 2 (CABP2), mRNA.	116	EF-hand 2.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.I122V(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						AGCTCCATCTCGGTGGGCATG	0.627000														89			44		0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34051053	34051053	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:34051053G>A	uc002yqh.2	-	11	1529	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F	SYNJ1_uc011ads.1_Missense_Mutation_p.S474F|SYNJ1_uc002yqf.2_Missense_Mutation_p.S471F|SYNJ1_uc002yqg.2_Missense_Mutation_p.S474F|SYNJ1_uc002yqi.2_Missense_Mutation_p.S510F	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	471	Catalytic (Potential).						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTCTTGCTTGGAGCTGTCAAA	0.408000														94			21		0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17250265	17250265	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:17250265G>A	uc011aby.1	+	24	3377	c.3160G>A	c.(3160-3162)Gat>Aat	p.D1054N	USP25_uc002yjz.1_Missense_Mutation_p.D1016N|USP25_uc010gla.1_Missense_Mutation_p.D379N|USP25_uc002yjy.1_Missense_Mutation_p.D984N	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	984					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AGCTGTAGAAGATATGAGAAA	0.363000														59			13		0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59406585	59406585	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59406585G>A	uc001noe.4	-	17	2370	c.2227C>T	c.(2227-2229)Cta>Tta	p.L743L		NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	743	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						AGGGACACTAGGTTTGTAGGT	0.488000														48			13		0	0	1	0	0
CSN2	1447	broad.mit.edu	37	4	70823435	70823435	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:70823435G>A	uc003hes.4	-	4	245	c.232C>T	c.(232-234)Cca>Tca	p.P78S	CSN2_uc003het.4_Missense_Mutation_p.P77S	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	78					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						ATGTTTTGTGGAAGAAAACCA	0.468000														111			29		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060446	54060446	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:54060446C>T	uc001cvr.1	-	2	697	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	44					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GAGCTGGGTTCGCTGCCCAGA	0.726000														16			3		0	0	1	0	0
CT47A6	728062	broad.mit.edu	37	X	120094389	120094389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:120094389C>T	uc004eth.3	-	0	949	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	CT47A6_uc004eti.3_Intron	NM_001080141	NP_775842	Q5JQC4	CT47A_HUMAN	Homo sapiens cancer/testis antigen family 47, member A6 (CT47A6), mRNA.	232										large_intestine(1)|lung(4)	5						GTGGCTGGTTCCTCTGCGTCT	0.682000														2			249		0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71103627	71103627	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:71103627C>T	uc001jpl.4	+	1	209	c.108C>T	c.(106-108)ctC>ctT	p.L36L	HK1_uc009xqc.1_Missense_Mutation_p.S100L|HK1_uc001jpg.4_Silent_p.L24L|HK1_uc001jph.4_Silent_p.L40L|HK1_uc001jpi.4_Silent_p.L40L|HK1_uc001jpj.4_Silent_p.L71L|HK1_uc001jpk.4_Silent_p.L35L|HK1_uc009xqd.3_5'UTR	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	36	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.S36S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						ATGAAACTCTCATAGATATCA	0.502000														141			58		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8500768	8500768	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:8500768C>T	uc003zkk.3	-	23	2857	c.2114G>A	c.(2113-2115)cGa>cAa	p.R705Q	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	705	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCATTGGTTCGAATCAACAC	0.473000										TSP Lung(15;0.13)				64			41		0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12826135	12826135	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12826135G>A	uc002mup.3	-	5	1308	c.846C>T	c.(844-846)tcC>tcT	p.S282S	TNPO2_uc002muq.3_Silent_p.S190S|TNPO2_uc002muo.3_Silent_p.S190S|TNPO2_uc002mur.3_Silent_p.S190S	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	190					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGATGGCGTGGGACCTGGCGG	0.662000														25			12		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133795854	133795854	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:133795854G>A	uc001qgx.4	-	13	2045	c.1814C>T	c.(1813-1815)cCt>cTt	p.P605L	IGSF9B_uc001qgy.1_Missense_Mutation_p.P447L	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	605						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGTTGTAATAGGGAATGCTGC	0.647000														5			3		0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389325	1389325	+	Silent	SNP	C	T	T	rs71299249		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:1389325C>T	uc003gdf.2	+	0	3986	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	342					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	p.P341P(1)		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)			GAGTGCCCGCCTGCTCACACG	0.667000														345			31		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1415401	1415401	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:1415401C>T	uc003boz.3	+	14	2167	c.1900C>T	c.(1900-1902)Cag>Tag	p.Q634*	CNTN6_uc011asj.2_Nonsense_Mutation_p.Q562*|CNTN6_uc003bpa.3_Nonsense_Mutation_p.Q634*	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	634	Fibronectin type-III 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)		ATTTACTATTCAGACTCGGAC	0.398000														86			39		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480413	140480413	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140480413C>T	uc003lio.3	+	0	180	c.180C>T	c.(178-180)gcC>gcT	p.A60A	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	60	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAACTGGCCGCGAGGGGGG	0.507000														79			35		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113694393	113694393	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113694393C>T	uc001poh.3	-	11	1250	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q	USP28_uc001pog.3_Missense_Mutation_p.R114Q|USP28_uc010rwy.2_Missense_Mutation_p.R281Q|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.R406Q	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	406					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCTCTTATTTCGAATAAGCTC	0.318000														67			17		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370850	240370850	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240370850C>T	uc010pye.2	+	5	2975	c.2750C>T	c.(2749-2751)cCt>cTt	p.P917L	FMN2_uc010pyd.2_Missense_Mutation_p.P913L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	913	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCCTCCCCCTCCTCTTCCC	0.662000														85			42		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52602104	52602104	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:52602104C>T	uc002lfs.3	-	6	719	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	CCDC68_uc002lft.3_Missense_Mutation_p.E183K	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	183										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		CTGTGTTTTTCTTCAAGTTTT	0.358000														46			25		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33648129	33648129	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33648129C>T	uc021ywr.1	+	31	4472	c.4248C>T	c.(4246-4248)ttC>ttT	p.F1416F		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1416					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ATGTGAACTTCGTGAACCACT	0.602000														38			14		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57189311	57189311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57189311C>T	uc001cym.4	-	16	2330	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	642										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTGTTCTTTTCTAAGTTTTGC	0.313000														38			14		0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140109069	140109069	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140109069C>T	uc004clx.3	+	6	881	c.770C>T	c.(769-771)gCc>gTc	p.A257V	NDOR1_uc004clw.3_Missense_Mutation_p.A257V|NDOR1_uc011mes.2_Missense_Mutation_p.A257V|NDOR1_uc004cly.3_Missense_Mutation_p.A223V	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	257	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AACTCGGCTGCCCATGTCCAG	0.662000														39			11		0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156277015	156277015	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:156277015C>T	uc003ios.3	-	8	1407	c.1143G>A	c.(1141-1143)ttG>ttA	p.L381L	MAP9_uc011cin.2_Silent_p.L356L|MAP9_uc010iqa.1_Intron|MAP9_uc003iot.1_Silent_p.L380L	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	381					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TAGATTTCTTCAAAAACTCAG	0.343000														30			14		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90535853	90535853	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90535853C>T	uc010mqi.3	+	3	1060	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L	FAM75C1_uc004apq.4_Missense_Mutation_p.S327L	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CCCTTTATTTCATCCACACCC	0.567000														251			68		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160826660	160826660	+	Splice_Site	SNP	G	A	A	rs113304621	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:160826660G>A	uc002ube.2	-	18	2872	c.2660_splice	c.e18+1	p.R887_splice	PLA2R1_uc010zcp.2_Splice_Site_p.R887_splice|PLA2R1_uc002ubf.3_Splice_Site_p.R887_splice	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	887	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.R887C(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGTTCATACCGAAATTCATCA	0.318000														66			27		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31645925	31645925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:31645925G>A	uc004dda.1	-	54	8326	c.8082C>T	c.(8080-8082)ttC>ttT	p.F2694F	DMD_uc004dcr.1_Silent_p.F234F|DMD_uc004dcs.1_Silent_p.F234F|DMD_uc004dct.1_Silent_p.F234F|DMD_uc004dcu.1_Silent_p.F234F|DMD_uc004dcv.1_Silent_p.F234F|DMD_uc004dcw.2_Silent_p.F1350F|DMD_uc004dcx.2_Silent_p.F1353F|DMD_uc004dcz.2_Silent_p.F2571F|DMD_uc004dcy.1_Silent_p.F2690F|DMD_uc004ddb.1_Silent_p.F2686F	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2694					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)				GGTCCAGGGGGAACTGTTGCA	0.453000														11			10		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117307098	117307098	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:117307098C>T	uc003vjd.3	+	26	4511	c.4379C>T	c.(4378-4380)tCt>tTt	p.S1460F	CFTR_uc011knq.2_Missense_Mutation_p.S866F	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1460					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAGTGCAAGTCTAAGCCCCAG	0.512000									Cystic Fibrosis					49			13		0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54343015	54343015	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:54343015T>C	uc003hag.4	-	8	2053	c.1797A>G	c.(1795-1797)gaA>gaG	p.E599E	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Silent_p.E503E|LNX1_uc003hah.4_Non-coding_Transcript	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	599						cytoplasm	zinc ion binding			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)			TGCTGCAGTCTTCCTGGGGCT	0.537000														130			12		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76433779	76433779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76433779C>T	uc010dhp.2	-	73	12102	c.11977G>A	c.(11977-11979)Gag>Aag	p.E3993K	DNAH17_uc002jvq.3_Missense_Mutation_p.E278K|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.E3988Q(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTGGGGGGCTCGTTGGTGATC	0.657000														29			17		0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10934538	10934538	+	Missense_Mutation	SNP	C	T	T	rs121909095		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10934538C>T	uc002mpt.2	+	16	2046	c.1856C>T	c.(1855-1857)tCg>tTg	p.S619L	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Missense_Mutation_p.S619L|DNM2_uc010dxl.2_Missense_Mutation_p.S619L|DNM2_uc002mpu.2_Missense_Mutation_p.S615L|DNM2_uc002mpv.2_Missense_Mutation_p.S615L|DNM2_uc002mpw.3_Missense_Mutation_p.S348L|DNM2_uc002mpx.1_5'UTR	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	619	PH.		S -> L (in ADCNM; severe).|S -> W (in ADCNM; severe).		G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TGGAAGGCCTCGTTCCTCCGA	0.677000			"""F, N, Splice, Mis, O"""		ETP ALL									60			23		0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100179450	100179450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100179450G>A	uc003uvj.3	-	3	601	c.548C>T	c.(547-549)tCc>tTc	p.S183F	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	183					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCCCGCAGGGAAGAGAGGCC	0.587000														66			18		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124399574	124399574	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124399574G>A	uc001lgk.1	+	51	6680	c.6574G>A	c.(6574-6576)Gac>Aac	p.D2192N	DMBT1_uc001lgl.1_Missense_Mutation_p.D2182N|DMBT1_uc001lgm.1_Missense_Mutation_p.D1564N|DMBT1_uc021qaf.1_Missense_Mutation_p.D2192N|DMBT1_uc021qag.1_Missense_Mutation_p.D2182N|DMBT1_uc021qah.1_Missense_Mutation_p.D1564N|DMBT1_uc009xzz.1_Missense_Mutation_p.D2191N|DMBT1_uc010qtx.1_Missense_Mutation_p.D912N|DMBT1_uc009yab.1_Missense_Mutation_p.D895N|DMBT1_uc009yac.1_Missense_Mutation_p.D486N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2192	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGACACCATCGACTATTCCAA	0.517000														40			19		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2800046	2800046	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2800046G>A	uc022aqr.1	-	68	10873	c.10483C>T	c.(10483-10485)Cct>Tct	p.P3495S	CSMD1_uc011kwj.2_Missense_Mutation_p.P2810S|CSMD1_uc010lrg.3_Missense_Mutation_p.P1387S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3496						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCAAAGAAAGGAACCAGAATG	0.418000														14			5		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41525904	41525904	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:41525904C>T	uc003xok.3	-	38	5359	c.5275G>A	c.(5275-5277)Gag>Aag	p.E1759K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.E913K|ANK1_uc003xoi.3_Missense_Mutation_p.E1759K|ANK1_uc003xoj.3_Missense_Mutation_p.E1759K|ANK1_uc003xol.3_Missense_Mutation_p.E1597K|ANK1_uc003xom.3_Missense_Mutation_p.E1800K	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1759	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CACGTGTGCTCACTTACAGAC	0.592000														57			25		0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34038258	34038258	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:34038258G>A	uc002yqh.2	-	16	2257	c.2257C>T	c.(2257-2259)Cct>Tct	p.P753S	SYNJ1_uc011ads.1_Missense_Mutation_p.P709S|SYNJ1_uc002yqf.2_Missense_Mutation_p.P714S|SYNJ1_uc002yqg.2_Missense_Mutation_p.P709S|SYNJ1_uc002yqi.2_Missense_Mutation_p.P753S	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	714	Catalytic (Potential).						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTTACCATAGGAAAACTCAAT	0.348000														44			14		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19745391	19745391	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19745391G>A	uc002nnd.3	-	17	2126	c.2009C>T	c.(2008-2010)tCg>tTg	p.S670L	GMIP_uc010xrb.2_Missense_Mutation_p.S644L|GMIP_uc010xrc.2_Missense_Mutation_p.S641L	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	670	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGTCTTCAGCGAGCGGATAAC	0.602000														138			78		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26462936	26462936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:26462936G>A	uc001isn.2	+	29	4103	c.3743G>A	c.(3742-3744)aGg>aAg	p.R1248K	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1248					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACAGAGGAGAGGAATTGTGAA	0.438000														70			17		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23885428	23885428	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23885428C>T	uc001wjx.3	-	33	4844	c.4738G>A	c.(4738-4740)Gac>Aac	p.D1580N		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1580					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATCTCCTCGTCCTTCTCTGCC	0.642000														183			70		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072128	9072128	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9072128G>A	uc002mkp.3	-	2	15522	c.15318C>T	c.(15316-15318)gcC>gcT	p.A5106A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5108	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						CTTTAGAAGTGGCCAGTATCT	0.428000														96			45		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94487106	94487106	+	Missense_Mutation	SNP	G	A	A	rs56099091	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:94487106G>A	uc004arj.2	-	8	1869	c.1670C>T	c.(1669-1671)tCg>tTg	p.S557L	ROR2_uc004ari.1_Missense_Mutation_p.S417L	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	557	Protein kinase.		S -> L (in dbSNP:rs56099091).		negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity	p.S557L(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTCGCCGTGCGAACAGTAGCT	0.652000														47			9		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766837	77766837	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:77766837C>T	uc003yau.2	+	9	8067	c.7680C>T	c.(7678-7680)ccC>ccT	p.P2560P	ZFHX4_uc003yaw.1_Silent_p.P2515P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2515						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)			CTCAAATGCCCCCTCAGGCCA	0.498000										HNSCC(33;0.089)				63			17		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72344257	72344257	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:72344257C>T	uc002llw.2	+	0	1335	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	ZNF407_uc010xfc.2_Missense_Mutation_p.R428C|ZNF407_uc010dqu.2_Missense_Mutation_p.R428C|ZNF407_uc002llu.2_Missense_Mutation_p.R427C	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TAATAGCTTTCGTCGACGAAG	0.423000														81			15		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113169566	113169566	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113169566C>T	uc010mtz.3	-	37	8651	c.8314G>A	c.(8314-8316)Gcc>Acc	p.A2772T	SVEP1_uc010mty.3_Missense_Mutation_p.A698T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2772	Sushi 22.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATGAAATGGCTTCACAGCGT	0.463000														86			38		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101413856	101413856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:101413856G>A	uc010svm.1	+	8	1351	c.779G>A	c.(778-780)aGa>aAa	p.R260K	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.R225K|ANO4_uc001thx.2_Missense_Mutation_p.R260K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	260						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						AATGCCACAAGAAGTAGAATC	0.308000										HNSCC(74;0.22)				55			27		0	0	1	0	0
CSNK1E	1454	broad.mit.edu	37	22	38699191	38699191	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38699191G>A	uc003avj.3	-	2	400	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	CSNK1E_uc003avk.3_Missense_Mutation_p.P47S|CSNK1E_uc003avm.2_Missense_Mutation_p.P47S|CSNK1E_uc010gxm.2_Non-coding_Transcript	NM_152221	NP_689407	P49674	KC1E_HUMAN	Homo sapiens casein kinase 1, epsilon (CSNK1E), transcript variant 1, mRNA.	47	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					TGCAGCTGGGGGTGCTTTGTC	0.667000														13			7		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206610475	206610476	+	Missense_Mutation	DNP	CG	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:206610475_206610476CG>TA	uc002vaw.3	+	9	2438_2439	c.1647_1648CG>TA	c.(1645-1650)ttcgaa>ttTAaa	p.E550K	NRP2_uc002vau.3_Missense_Mutation_p.E550K|NRP2_uc002vav.3_Missense_Mutation_p.E550K|NRP2_uc002vax.3_Missense_Mutation_p.E550K|NRP2_uc002vay.3_Missense_Mutation_p.E550K	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	550	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.F549F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGCAGCTGTTCGAAGGGAACAT	0.609000														28			12		0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73044544	73044544	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73044544G>A	uc001jro.3	+	2	823	c.372G>A	c.(370-372)gaG>gaA	p.E124E	UNC5B_uc001jrp.3_Silent_p.E124E	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	124	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TTGGGCTGGAGGATTACTGGT	0.682000														72			37		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94884136	94884136	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:94884136G>A	uc002btj.3	+	5	1017	c.952G>A	c.(952-954)Ggt>Agt	p.G318S	MCTP2_uc010urg.1_Missense_Mutation_p.G318S|MCTP2_uc002bti.2_Missense_Mutation_p.G318S|MCTP2_uc010boj.3_Missense_Mutation_p.G47S|MCTP2_uc010bok.3_Missense_Mutation_p.G318S|MCTP2_uc002btg.4_Missense_Mutation_p.G318S|MCTP2_uc002bth.4_Missense_Mutation_p.G318S	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	318					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGTAAAACAGGGTGATTTCAA	0.373000														71			14		0	0	1	0	0
KIAA0240	23506	broad.mit.edu	37	6	42797233	42797233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:42797233C>T	uc003osn.1	+	5	1313	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y	KIAA0240_uc003osm.1_Missense_Mutation_p.H388Y|KIAA0240_uc011duw.1_Missense_Mutation_p.H388Y|KIAA0240_uc003oso.1_Missense_Mutation_p.H388Y|KIAA0240_uc003osp.1_Missense_Mutation_p.H388Y	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	388										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			TATTGTTATTCATTCCCCCAT	0.488000														287			63		0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64644097	64644097	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:64644097C>T	uc001dbj.2	+	8	2772	c.2373C>T	c.(2371-2373)ttC>ttT	p.F791F		NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	791	Pro-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity	p.M790I(1)		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						ATTACATGTTCCCGAGCCAGG	0.507000														96			26		0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14711407	14711407	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:14711407C>T	uc003jfm.4	-	11	1709	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	460					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GACTCATTCTCCATCTTCTTT	0.532000														163			10		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3633209	3633209	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3633209G>A	uc002cvp.2	-	13	5669	c.5042C>T	c.(5041-5043)tCg>tTg	p.S1681L		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1681	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTTGGTGGGCGACCTGCTTGG	0.602000								Direct reversal of damage						59			37		0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469404	72469404	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:72469404G>A	uc010izc.3	+	0	382	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	112						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		CCCGGACTCGGAACAGACACC	0.517000														77			37		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411707	23411707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:23411707G>A	uc004dal.4	+	2	2080	c.2072G>A	c.(2071-2073)cGa>cAa	p.R691Q		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	691					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TACATGGATCGATATGCCTCC	0.488000														21			33		0	0	1	0	0
AGTRAP	57085	broad.mit.edu	37	1	11808498	11808498	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11808498C>T	uc001asv.3	+	3	319	c.195C>T	c.(193-195)atC>atT	p.I65I	AGTRAP_uc001asu.3_Missense_Mutation_p.L98F|AGTRAP_uc001ast.3_Missense_Mutation_p.L98F|AGTRAP_uc001asw.3_Silent_p.I65I|AGTRAP_uc001asx.3_Missense_Mutation_p.L54F	NM_020350	NP_065083	Q6RW13	ATRAP_HUMAN	Homo sapiens angiotensin II receptor-associated protein (AGTRAP), transcript variant 1, mRNA.	65						Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCACCATCTTCCTGGACA	0.627000														57			21		0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110168355	110168355	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110168355C>T	uc009wfh.1	+	3	998	c.456C>T	c.(454-456)ccC>ccT	p.P152P	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Silent_p.P71P|AMPD2_uc001dyc.1_Silent_p.P152P|AMPD2_uc010ovr.1_Silent_p.P77P|AMPD2_uc010ovs.1_Silent_p.P34P|AMPD2_uc001dyd.1_Silent_p.P33P	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	152					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGGAGAGCCCCATTGAACAGC	0.642000														71			20		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113418951	113418951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:113418951G>A	uc003ynu.3	-	34	5770	c.5611C>T	c.(5611-5613)Cct>Tct	p.P1871S	CSMD3_uc003yns.3_Missense_Mutation_p.P1073S|CSMD3_uc003ynt.3_Missense_Mutation_p.P1831S|CSMD3_uc011lhx.2_Missense_Mutation_p.P1767S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1871						integral to membrane|plasma membrane				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						CTTGTTCTAGGAACAGCTGTG	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				56			41		0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76342274	76342274	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:76342274C>T	uc003ket.3	+	5	1355	c.973C>T	c.(973-975)Cat>Tat	p.H325Y		NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	325					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)		AATAGGCATTCATCACAAAAA	0.358000														215			17		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87045909	87045909	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:87045909C>T	uc009wcs.3	+	13	2685	c.2641C>T	c.(2641-2643)Cct>Tct	p.P881S	CLCA4_uc009wct.3_Missense_Mutation_p.P644S|CLCA4_uc009wcu.3_Missense_Mutation_p.P701S	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	881						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			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)		tacacctactcctactcctac	0.348000														48			14		0	0	1	0	0
PON2	5445	broad.mit.edu	37	7	95035513	95035513	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:95035513G>A	uc003unv.3	-	7	945	c.824C>T	c.(823-825)tCc>tTc	p.S275F	PON2_uc003unu.3_Missense_Mutation_p.S263F|PON2_uc010lfk.3_Non-coding_Transcript|PON2_uc003unw.3_Missense_Mutation_p.S188F	NM_000305	NP_000296	Q15165	PON2_HUMAN	Homo sapiens paraoxonase 2 (PON2), transcript variant 1, mRNA.	275					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GTCCCCCGAGGAAGGATCAAT	0.403000														138			48		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57257988	57257988	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57257988G>A	uc001cym.4	-	1	904	c.498C>T	c.(496-498)gcC>gcT	p.A166A	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Silent_p.A166A	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	166								p.A166S(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCAGATGGATGGCCTTACTTC	0.483000														85			50		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94049587	94049587	+	Missense_Mutation	SNP	C	T	T	rs139199272		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94049587C>T	uc003ung.1	+	34	2593	c.2122C>T	c.(2122-2124)Cgg>Tgg	p.R708W	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	708			Missing (in OI2A).|R -> Q (in Marfan syndrome).		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	p.P707P(1)	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)	tgctggtcctCGGGGAAGCCC	0.448000										HNSCC(75;0.22)				91			27		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28667647	28667647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28667647C>T	uc002kwl.4	-	5	1214	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	DSC2_uc002kwk.4_Missense_Mutation_p.E254K	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	254	Cadherin 2.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTGCAATTTTCAAAAATTGTA	0.333000														78			39		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943768	144943768	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144943768G>A	uc003zaa.1	-	0	3667	c.3654C>T	c.(3652-3654)acC>acT	p.T1218T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1218						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCTCAAGGGTCTCCTGGG	0.716000														5			7		0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079198	57079198	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:57079198A>G	uc003xsq.4	-	2	1558	c.1107T>C	c.(1105-1107)tcT>tcC	p.S369S	PLAG1_uc003xsr.4_Silent_p.S369S|PLAG1_uc010lyi.3_Silent_p.S369S|PLAG1_uc010lyj.3_Silent_p.S287S|PLAG1_uc022aur.1_Silent_p.S287S	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	369	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P368S(1)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CTTGGGATGAAGAGGGCACGC	0.453000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									119			47		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7122765	7122765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7122765G>A	uc002mgd.1	-	18	3498	c.3389C>T	c.(3388-3390)cCc>cTc	p.P1130L	INSR_uc002mge.1_Missense_Mutation_p.P1118L	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1130	Protein kinase.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGGGTAGGGGGAGGGCGGCC	0.582000														48			23		0	0	1	0	0
TBCEL	219899	broad.mit.edu	37	11	120925967	120925967	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:120925967C>T	uc001pxo.3	+	4	867	c.662C>T	c.(661-663)tCa>tTa	p.S221L	TBCEL_uc009zay.3_Missense_Mutation_p.S221L|TBCEL_uc001pxp.3_Missense_Mutation_p.S77L|TBCEL_uc001pxq.3_Intron	NM_152715	NP_689928	Q5QJ74	TBCEL_HUMAN	Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA.	221						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		CCTGATGATTCATTGGCCAGG	0.433000														48			25		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62452064	62452064	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:62452064C>T	uc003dll.2	-	24	3862	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K	CADPS_uc003dlj.1_Missense_Mutation_p.E123K|CADPS_uc003dlk.1_Missense_Mutation_p.E616K|CADPS_uc003dlm.2_Missense_Mutation_p.E1129K|CADPS_uc003dln.2_Missense_Mutation_p.E1089K|CADPS_uc021wzv.1_Missense_Mutation_p.E1159K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1168					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCAATTAGTTCGTCTATTTTT	0.363000														18			12		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84537277	84537277	+	Missense_Mutation	SNP	C	T	T	rs142898680	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:84537277C>T	uc004eer.2	-	15	1842	c.1696G>A	c.(1696-1698)Gaa>Aaa	p.E566K	POF1B_uc004ees.3_Missense_Mutation_p.E566K	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	566							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GGTATATATTCGTAGTCATCA	0.373000														17			17		0	0	1	0	0
AGAP8	728404	broad.mit.edu	37	10	51225257	51225257	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:51225257C>T	uc001jij.3	-	6	1851	c.1725G>A	c.(1723-1725)gaG>gaA	p.E575E	PARG_uc001jih.3_Intron|PARG_uc009xoj.3_Intron|PARG_uc001jif.3_Intron|PARG_uc001jig.3_Intron|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Intron|PARG_uc010qgx.2_Intron|AGAP8_uc009xom.3_Silent_p.E490E|AGAP8_uc001jik.3_Silent_p.E559E|AGAP8_uc010qgy.2_Silent_p.E598E|AGAP8_uc021pqg.1_Silent_p.E575E|DQ588224_uc001jil.1_5'Flank	NM_001077686	NP_001071154	Q5SRD3	AGAP8_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 (AGAP8), mRNA.	575					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						TCTGCAGGTCCTCATCAGCGG	0.632000														117			7		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239169470	239169470	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:239169470G>A	uc002vyc.3	-	13	1779	c.1542_splice	c.e13+1	p.A514_splice	PER2_uc010znv.1_Splice_Site_p.A514_splice	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	514					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GAGACGTACGGCTCTCCTCCG	0.567000														342			128		0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	16026826	16026826	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:16026826C>T	uc003goo.2	-	4	831	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	PROM1_uc003gor.2_Missense_Mutation_p.E207K|PROM1_uc003gos.2_Missense_Mutation_p.E198K|PROM1_uc003got.2_Missense_Mutation_p.E207K|PROM1_uc003gou.2_Missense_Mutation_p.E198K|PROM1_uc003gop.2_Missense_Mutation_p.E198K|PROM1_uc003goq.3_Missense_Mutation_p.E198K|PROM1_uc010iec.1_Missense_Mutation_p.E85K	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	207					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TCTGGAGTTTCATTCAAGAGA	0.398000														113			52		0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17943349	17943349	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17943349G>A	uc002nhn.4	-	18	2759	c.2659C>T	c.(2659-2661)Cgt>Tgt	p.R887C	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.R887C	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	887	Protein kinase 2.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R887C(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CTGACACCACGATACTTGACA	0.547000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									108			21		0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34789448	34789448	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:34789448C>T	uc003oju.4	+	1	297	c.63C>T	c.(61-63)tcC>tcT	p.S21S	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	21										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGAATCTTTCCCCAGACAAAA	0.443000														60			5		0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046493	17046493	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17046493G>A	uc001azn.1	-	0	160	c.46C>T	c.(46-48)Ccc>Tcc	p.P16S						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CTCAGGGAGGGGAAGTCTCCT	0.632000														153			13		0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54610467	54610467	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:54610467C>T	uc022adk.1	+	0	449	c.44C>T	c.(43-45)tCc>tTc	p.S15F	VSTM2A_uc010kzf.3_Missense_Mutation_p.S15F	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	15						extracellular region		p.S15S(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GTTTTCTTTTCCGTTTTATAT	0.413000														101			48		0	0	1	0	0
CD79A	973	broad.mit.edu	37	19	42383213	42383213	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42383213C>T	uc002orv.3	+	1	418	c.233C>T	c.(232-234)cCt>cTt	p.P78L	CD79A_uc002oru.3_Missense_Mutation_p.P78L	NM_001783	NP_001774	P11912	CD79A_HUMAN	Homo sapiens CD79a molecule, immunoglobulin-associated alpha (CD79A), transcript variant 1, mRNA.	78	Ig-like C2-type.				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						ACGTGGCCCCCTGAGTTCTTG	0.617000			"""O, S"""		DLBCL									77			29		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060837	9060837	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9060837G>A	uc002mkp.3	-	2	26813	c.26609C>T	c.(26608-26610)tCc>tTc	p.S8870F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8872	Ser-rich.|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						AGATGGTGTGGAATAAAGTGG	0.502000														83			38		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861734	52861734	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:52861734G>A	uc003gzi.3	-	3	1461	c.1454C>T	c.(1453-1455)tCg>tTg	p.S485L		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	485						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGGGCTCTGCGAACTGCCAGG	0.557000														82			33		0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86468627	86468627	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:86468627G>A	uc004ana.3	-	14	3418	c.3274C>T	c.(3274-3276)Cgt>Tgt	p.R1092C	KIF27_uc010mpw.3_Missense_Mutation_p.R1026C|KIF27_uc010mpx.3_Missense_Mutation_p.R995C	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	1092					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GCTTCACCACGAGAGAGGTTA	0.398000														90			37		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502563	140502563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140502563G>A	uc003lip.1	+	0	983	c.983G>A	c.(982-984)gGa>gAa	p.G328E		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	328	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCTTTCTGGAAAAGGCACT	0.418000														211			95		0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59878805	59878805	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:59878805G>A	uc002izk.2	-	7	1255	c.949C>T	c.(949-951)Cat>Tat	p.H317Y		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	317	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTAATTTTATGAACTCCATGA	0.368000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						165			21		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119927487	119927487	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:119927487C>T	uc001ehr.1	+	3	504	c.372C>T	c.(370-372)ctC>ctT	p.L124L	HAO2_uc001ehq.1_Silent_p.L124L	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	124	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CCGAAGGCCTCCGATGGTTCC	0.488000														126			15		0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10428434	10428434	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10428434G>A	uc002moa.3	-	11	2136	c.2056C>T	c.(2056-2058)Ccg>Tcg	p.P686S	FDX1L_uc002mnx.1_5'Flank|FDX1L_uc002mny.1_5'Flank|RAVER1_uc021uou.1_5'Flank|RAVER1_uc002mnz.3_Missense_Mutation_p.P54S	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	513						cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GACCCCAGCGGGGAAGAGCCG	0.692000														14			4		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47274755	47274755	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:47274755C>T	uc002xtw.1	-	16	1916	c.1893G>A	c.(1891-1893)caG>caA	p.Q631Q	PREX1_uc002xtv.1_5'Flank	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	631	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGTCCTCCTCCTGGGGCAGGA	0.672000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		276			32		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823763	38823763	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38823763G>A	uc003avs.1	-	1	472	c.375C>T	c.(373-375)ttC>ttT	p.F125F	KCNJ4_uc003avt.1_Silent_p.F125F|KCNJ4_uc021wpp.1_Silent_p.F125F	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	125					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity	p.A124V(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CCGAGAACAGGAAGGCACCCA	0.697000														99			30		0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1961512	1961512	+	Missense_Mutation	SNP	C	T	T	rs79386457	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1961512C>T	uc001aip.2	+	8	1245	c.1150C>T	c.(1150-1152)Ccg>Tcg	p.P384S		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	384						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.P384L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCGCCGCGTCCCGGGGAACCT	0.687000														38			14		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84456240	84456240	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84456240C>T	uc010chj.3	+	8	869	c.780C>T	c.(778-780)gtC>gtT	p.V260V	ATP2C2_uc002fhx.3_Silent_p.V260V|ATP2C2_uc002fhy.3_Silent_p.V277V|ATP2C2_uc002fhz.3_Silent_p.V109V	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	260					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.G259R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CACAGGGGGTCGTGATTGGAA	0.567000														245			47		0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390532	8390532	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:8390532C>T	uc001apb.3	+	3	979	c.979C>T	c.(979-981)Ccg>Tcg	p.P327S	SLC45A1_uc001apc.3_Missense_Mutation_p.P25S	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	327					carbohydrate transport	integral to membrane	symporter activity	p.P327P(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGACAGCCTCCCGTCGCACAC	0.711000														42			10		0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528889	20528889	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20528889C>T	uc001vwn.1	+	0	686	c.686C>T	c.(685-687)tCa>tTa	p.S229L		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K228Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CCAAAAAAATCATCACATGGG	0.438000														133			49		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713148	70713148	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70713148C>T	uc010ttg.2	-	0	1371	c.720G>A	c.(718-720)ggG>ggA	p.G240G						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		CCACACCATTCCCACAGCGCT	0.468000														88			31		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110977	81110977	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81110977G>A	uc001szg.2	+	0	270	c.135G>A	c.(133-135)gaG>gaA	p.E45E		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	45					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.E45*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ACAAAGCAGAGCTGCAGGGCT	0.622000														24			18		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634644	122634644	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122634644C>T	uc003efz.1	-	12	2086	c.1782G>A	c.(1780-1782)tgG>tgA	p.W594*	SEMA5B_uc011bju.1_Nonsense_Mutation_p.W536*|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Nonsense_Mutation_p.W594*|SEMA5B_uc010hro.1_Nonsense_Mutation_p.W536*	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	594					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGTTCTGGGTCCAGAGGCTCA	0.607000														64			15		0	0	1	0	0
HAPLN4	404037	broad.mit.edu	37	19	19369408	19369408	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19369408C>T	uc002nmb.3	-	3	851	c.741G>A	c.(739-741)ggG>ggA	p.G247G	HAPLN4_uc002nmc.3_Silent_p.G247G	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 4 (HAPLN4), mRNA.	247	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			TGCGCAGGCCCCCGTTGGCAT	0.697000														51			5		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367233	234367233	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:234367233G>A	uc001hvy.1	+	2	499	c.354G>A	c.(352-354)ggG>ggA	p.G118G	SLC35F3_uc001hwa.1_Silent_p.G49G	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	49					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AGGCCGGCGGGAGAGCGAGTC	0.746000														37			23		0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14437579	14437579	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:14437579G>A	uc002yja.4	+	8		c.2249G>A								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		CTGTGggccaggcgccatggc	0.478000														39			8		0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1064220	1064220	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1064220G>A	uc003jbu.3	-	18	2651	c.2585C>T	c.(2584-2586)cCc>cTc	p.P862L	MIR4635_uc021xvy.1_5'Flank	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	862					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CAGCAGGAAGGGCAGCAGCAT	0.692000														24			10		0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47041196	47041196	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:47041196C>T	uc004dhi.3	+	14	2048	c.1819C>T	c.(1819-1821)Cct>Tct	p.P607S	RBM10_uc004dhf.3_Missense_Mutation_p.P542S|RBM10_uc004dhh.3_Missense_Mutation_p.P541S|RBM10_uc010nhq.3_Missense_Mutation_p.P465S|RBM10_uc004dhg.3_Missense_Mutation_p.P464S	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	542	Tyr-rich.				RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCTCCAGAGCCCTACCCATCC	0.602000														23			3		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131666102	131666102	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:131666102C>T	uc021qav.1	-	8	888	c.787G>A	c.(787-789)Gac>Aac	p.D263N	EBF3_uc001lki.2_Missense_Mutation_p.D277N	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	286	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AAGAAGTTGTCGCCAATTATG	0.567000														38			34		0	0	1	0	0
SRRM3	222183	broad.mit.edu	37	7	75894779	75894779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:75894779C>T	uc010ldi.2	+	9	1032	c.823C>T	c.(823-825)Ccc>Tcc	p.P275S	SRRM3_uc011kgi.2_5'UTR	NM_001110199	NP_001103669			Homo sapiens serine/arginine repetitive matrix 3 (SRRM3), mRNA.											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						TTCCAGATCTCCCAGCAGGTA	0.632000														41			15		0	0	1	0	0
HSD17B13	345275	broad.mit.edu	37	4	88235022	88235022	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:88235022G>A	uc003hqo.2	-	4	711	c.648C>T	c.(646-648)ctC>ctT	p.L216L	HSD17B13_uc010ikk.2_Silent_p.L180L	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.	216						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		AAACTGGGCAGAGACATGAGG	0.408000														48			26		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134173	91134173	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:91134173C>T	uc004efk.2	+	1	3779	c.2934C>T	c.(2932-2934)atC>atT	p.I978I	PCDH11X_uc004efl.2_Silent_p.I978I|PCDH11X_uc010nmv.2_Silent_p.I978I|PCDH11X_uc004efm.2_Silent_p.I978I|PCDH11X_uc004efn.2_Silent_p.I978I|PCDH11X_uc004efo.2_Silent_p.I978I|PCDH11X_uc004efh.2_Silent_p.I978I|PCDH11X_uc004efj.1_Silent_p.I978I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	978					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.I978V(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTGACTCTATCTCCAAGTGTT	0.517000														62			88		0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62253103	62253103	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:62253103A>G	uc003dlb.3	+	17	3394	c.2675A>G	c.(2674-2676)aAg>aGg	p.K892R	PTPRG_uc003dlc.3_Missense_Mutation_p.K863R|PTPRG_uc011bfi.2_Missense_Mutation_p.K138R|LOC100506994_uc003dld.4_Intron|LOC100506994_uc010hnp.3_Intron|LOC100506994_uc003dle.4_Intron|LOC100506994_uc010hno.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	892	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGTAGGGTGAAGTTAAGACCT	0.333000														111			42		0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127561577	127561577	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:127561577A>G	uc004bov.3	+	3	589	c.476A>G	c.(475-477)aAc>aGc	p.N159S	OLFML2A_uc010mwr.1_Missense_Mutation_p.N123S|OLFML2A_uc004bow.3_5'Flank	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	159										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						ATCAAGGCCAACCTGAGCCGG	0.582000														56			15		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9382181	9382181	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9382181G>A	uc021wam.1	+	16	1570	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	PLCB4_uc010gbw.1_Missense_Mutation_p.E519K|PLCB4_uc010gbx.3_Missense_Mutation_p.E519K|PLCB4_uc021wal.1_Missense_Mutation_p.E519K|PLCB4_uc002wnh.3_Missense_Mutation_p.E366K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	519					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.N518H(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTTGGAAATGAACTTTCTGC	0.458000														30			18		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222307703	222307703	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:222307703G>A	uc002vmq.3	-	10	1962	c.1920C>T	c.(1918-1920)ctC>ctT	p.L640L	EPHA4_uc002vmr.2_Silent_p.L640L|EPHA4_uc010zlm.1_Silent_p.L581L	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	640	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)		CAGGCACTTTGAGACGCCCAC	0.443000														104			42		0	0	1	0	0
TNNT1	7138	broad.mit.edu	37	19	55652277	55652277	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55652277C>T	uc002qjb.4	-	8	450	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	TNNT1_uc002qjc.4_Missense_Mutation_p.E121K|TNNT1_uc002qje.4_Missense_Mutation_p.E110K|TNNT1_uc002qjd.4_Missense_Mutation_p.E110K|TNNT1_uc002qjf.2_Missense_Mutation_p.E117K	NM_003283	NP_003274	P13805	TNNT1_HUMAN	Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.	121					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CGTTCGCGTTCCTTCTCAGTT	0.562000														65			22		0	0	1	0	0
DJ439558	0	broad.mit.edu	37	10	66585344	66585344	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:66585344G>A	uc021prl.1	-	1		c.26_splice	c.e1+1		ANXA2P3_uc009xpm.1_Non-coding_Transcript					Annexin II and uses thereof.																		TACTATTTACGAAATCCTGTG	0.488000														13			7		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3508653	3508653	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:3508653C>T	uc002kmf.3	-	10	3013	c.2486G>A	c.(2485-2487)gGa>gAa	p.G829E	DLGAP1_uc010wyz.2_Missense_Mutation_p.G829E|DLGAP1_uc010dkn.3_Missense_Mutation_p.G537E|DLGAP1_uc002kme.2_Missense_Mutation_p.G527E|DLGAP1_uc010wyw.2_Missense_Mutation_p.G535E|DLGAP1_uc010wyx.2_Missense_Mutation_p.G551E|DLGAP1_uc010wyy.2_Missense_Mutation_p.G513E|DLGAP1_uc002kmg.3_Missense_Mutation_p.G527E	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	829					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TCGGATTTTTCCTAGAACTGG	0.413000														23			12		0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4199453	4199453	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:4199453G>A	uc003ghp.1	-	4	1138	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	370					biomineral tissue development	extracellular space|integral to membrane		p.R370Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTGTAAATCCGGATTCCAGCC	0.582000														68			31		0	0	1	0	0
CLIC6	54102	broad.mit.edu	37	21	36081686	36081686	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:36081686G>A	uc010gmt.1	+	5	1803	c.1803G>A	c.(1801-1803)agG>agA	p.R601R	CLIC6_uc002yuf.1_Silent_p.R583R	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA.	601	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	p.S601T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						AGGCCCTGAGGAAGCTGGATA	0.453000														75			28		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47514289	47514289	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47514289G>A	uc001cqt.3	+	9	1510	c.1260G>A	c.(1258-1260)tgG>tgA	p.W420*	CYP4X1_uc001cqr.3_Nonsense_Mutation_p.W419*|CYP4X1_uc001cqs.3_Nonsense_Mutation_p.W355*	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	420						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CTGCTGTCTGGAAAAACCCAA	0.418000														171			63		0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450355	158450355	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158450355C>T	uc010pik.2	+	0	688	c.688C>T	c.(688-690)Ccc>Tcc	p.P230S	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ACTTGTGGTTCCCTTTCTGTT	0.438000														140			35		0	0	1	0	0
CASP9	842	broad.mit.edu	37	1	15844812	15844812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:15844812G>A	uc001awn.3	-	1	456	c.211C>T	c.(211-213)Cct>Tct	p.P71S	CASP9_uc001awm.2_Missense_Mutation_p.P71S|CASP9_uc001awo.3_Missense_Mutation_p.P71S|CASP9_uc001awp.3_5'UTR|CASP9_uc009voi.3_5'UTR|CASP9_uc010obm.2_5'UTR	NM_001229	NP_127463	P55211	CASP9_HUMAN	Homo sapiens caspase 9, apoptosis-related cysteine peptidase (CASP9), transcript variant alpha, mRNA.	71	CARD.				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		ATGAACAAAGGAAGAGCCTGA	0.547000														70			25		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70355236	70355236	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:70355236G>A	uc003hek.4	-	2	970	c.923C>T	c.(922-924)tCt>tTt	p.S308F	UGT2B4_uc011cap.2_Missense_Mutation_p.S172F|UGT2B4_uc003hel.4_Missense_Mutation_p.S308F	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	308					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CGACCCCAGAGAAAACACCAC	0.393000														209			83		0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124664732	124664732	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:124664732G>A	uc003yqs.1	-	0	459	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	145	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CGCAGCTTAAGATTTCTGAGA	0.582000														51			20		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281792	152281792	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152281792C>T	uc001ezu.1	-	2	5606	c.5570G>A	c.(5569-5571)gGg>gAg	p.G1857E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1857	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1857G(1)|p.R1856H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGACTGCCCACGGGAGAC	0.542000									Ichthyosis					478			164		0	0	1	0	0
C15orf48	84419	broad.mit.edu	37	15	45724270	45724270	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45724270C>T	uc001zvg.3	+	4	241	c.123_splice	c.e4-1	p.I41_splice	C15orf48_uc001zvh.3_Splice_Site_p.I41_splice|C15orf48_uc021skp.1_5'Flank	NM_197955	NP_922946	Q9C002	NMES1_HUMAN	Homo sapiens chromosome 15 open reading frame 48 (C15orf48), transcript variant 1, mRNA.	41						nucleus				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		TTAATTTTAGCCTTGATCGAA	0.318000														36			8		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149490673	149490673	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149490673G>A	uc010lpk.3	+	39	6038	c.6038G>A	c.(6037-6039)gGg>gAg	p.G2013E		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2016	VWFC 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTGGTGGAGGGGACGGGAGAA	0.642000														29			16		0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46501502	46501502	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:46501502C>T	uc001cov.3	+	28	5444	c.5161C>T	c.(5161-5163)Ccc>Tcc	p.P1721S	MAST2_uc001cow.3_Missense_Mutation_p.P1720S|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	1721					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)					TTATGAGGATCCCAGCCAGGG	0.577000														68			5		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106349795	106349795	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106349795C>T	uc021ser.1	-	3932		c.58690G>A								Parts of antibodies, mostly variable regions.																		GCCTGGCACCCCCTGACAATA	0.642000														62			17		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856145	12856145	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12856145G>A	uc001auj.2	+	3	1528	c.1425G>A	c.(1423-1425)taG>taA	p.*475*		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	0										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGCTGCTAGGGAAGGCGTG	0.517000														137			17		0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2752230	2752230	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:2752230G>A	uc003smr.1	+	6	1576	c.1215G>A	c.(1213-1215)aaG>aaA	p.K405K	AMZ1_uc003sms.1_3'UTR|AMZ1_uc011jwa.1_Silent_p.K154K	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	405							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGGCCATCAAGGAGCATGAAC	0.687000														13			6		0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41957532	41957532	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:41957532G>A	uc003ckv.4	-	7	941	c.740C>T	c.(739-741)cCt>cTt	p.P247L	ULK4_uc003ckw.2_Missense_Mutation_p.P247L|ULK4_uc003ckx.1_Missense_Mutation_p.P247L	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	247	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGAAGCTTTAGGACGAGAAGA	0.274000														76			29		0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2940692	2940692	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:2940692G>A	uc002klo.3	-	4	848	c.609C>T	c.(607-609)tcC>tcT	p.S203S		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	203					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTTCTTTCAAGGAAGCATTTG	0.413000														38			14		0	0	1	0	0
NHLH2	4808	broad.mit.edu	37	1	116380921	116380921	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:116380921C>T	uc021osf.1	-	0	73	c.73G>A	c.(73-75)Ggc>Agc	p.G25S	NHLH2_uc009wgz.3_Missense_Mutation_p.G25S|NHLH2_uc001efy.3_Missense_Mutation_p.G25S	NM_005599	NP_005590	Q02577	HEN2_HUMAN	Homo sapiens nescient helix loop helix 2 (NHLH2), transcript variant 1, mRNA.	25					cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCCGTGCCGCCCAGGGACTCC	0.677000														20			7		0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233273254	233273254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233273254C>T	uc002vss.4	+	6	880	c.827C>T	c.(826-828)tCc>tTc	p.S276F		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	276					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CTGCAGGCTTCCCTGGACCCG	0.652000														98			35		0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71602144	71602144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71602144G>A	uc002fap.2	-	11	1367	c.1268C>T	c.(1267-1269)cCc>cTc	p.P423L		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	423					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CATCACCTCGGGGACTGTGAT	0.522000														48			9		0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108367771	108367771	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108367771A>T	uc003dxd.3	+	16	2391	c.1969A>T	c.(1969-1971)Agt>Tgt	p.S657C	DZIP3_uc003dxf.1_Missense_Mutation_p.S657C|DZIP3_uc011bhm.2_Missense_Mutation_p.S108C|DZIP3_uc003dxg.1_Missense_Mutation_p.S380C	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	657					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CTAGGTTAAGAGTAAACAAAG	0.264000														21			4		0	0	1	0	0
KDM5D	8284	broad.mit.edu	37	Y	21878326	21878326	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrY:21878326G>C	uc004fug.3	-	14	2158	c.1870C>G	c.(1870-1872)Cgc>Ggc	p.R624G	KDM5D_uc011naz.2_Missense_Mutation_p.R655G|KDM5D_uc010nwy.3_Missense_Mutation_p.R567G|KDM5D_uc011nba.1_Missense_Mutation_p.R624G|KDM5D_uc004fuf.3_5'Flank	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN	Homo sapiens lysine (K)-specific demethylase 5D (KDM5D), transcript variant 2, mRNA.	624	JmjC.				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	CGGAGCCGGCGGTAGTGTTCA	0.527000														14			25		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422713	26422713	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26422713G>A	uc003abz.1	+	42	7023	c.6773G>A	c.(6772-6774)cGg>cAg	p.R2258Q	MYO18B_uc003aca.1_Missense_Mutation_p.R2139Q|MYO18B_uc010guy.1_Missense_Mutation_p.R2140Q|MYO18B_uc010guz.1_Missense_Mutation_p.R2138Q|MYO18B_uc011aka.1_Missense_Mutation_p.R1412Q|MYO18B_uc011akb.1_Missense_Mutation_p.R1771Q|MYO18B_uc010gva.1_Missense_Mutation_p.R241Q|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2258						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						GAAGGGCTCCGGAGGAAGAGA	0.627000														17			12		0	0	1	0	0
KRT8	3856	broad.mit.edu	37	12	53295761	53295761	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53295761G>A	uc009zmk.1	-	2	524	c.504C>T	c.(502-504)ttC>ttT	p.F168F	KRT8_uc001sbd.2_Silent_p.F140F|KRT8_uc009zml.1_Silent_p.F140F|KRT8_uc009zmm.1_Silent_p.F140F	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	140	Coil 1B.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTAGCTCTCGAACATGTTGT	0.572000														63			16		0	0	1	0	0
RNF217	154214	broad.mit.edu	37	6	125397960	125397960	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:125397960C>T	uc003pzr.3	+	3	1268	c.734C>T	c.(733-735)cCa>cTa	p.P245L	RNF217_uc003pzs.3_Missense_Mutation_p.P188L|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	188					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CGCTACCTCCCAGAGAGACCT	0.438000														88			49		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70964210	70964210	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:70964210G>A	uc003pfg.4	-	24	1847	c.1688C>T	c.(1687-1689)cCt>cTt	p.P563L	COL9A1_uc003pfe.4_Missense_Mutation_p.P136L|COL9A1_uc003pff.4_Missense_Mutation_p.P320L	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	563	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ATCACCAGGAGGCCCAGGTTT	0.388000														70			8		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128335798	128335798	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:128335798G>A	uc002top.3	+	8	993	c.940G>A	c.(940-942)Gag>Aag	p.E314K		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	314	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTCCGACTCCGAGAGCTGGGA	0.607000														32			10		0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084466	248084466	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248084466G>A	uc010pzc.2	+	0	147	c.147G>A	c.(145-147)tgG>tgA	p.W49*		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	49			W -> R (in dbSNP:rs11204564).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H48H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGATTCACTGGGACCACCGGC	0.527000														98			23		0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583669	145583669	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145583669C>T	uc003zcc.2	+	2	681	c.517C>T	c.(517-519)Ccg>Tcg	p.P173S	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Missense_Mutation_p.P173S|SLC52A2_uc010mfy.2_Missense_Mutation_p.P173S|SLC52A2_uc011llc.2_Missense_Mutation_p.P85S|SLC52A2_uc003zcd.2_Missense_Mutation_p.P173S	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	173						integral to plasma membrane	receptor activity|riboflavin transporter activity										CCTCGAGTGCCCGCCAGCCCC	0.667000														100			21		0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31743882	31743882	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:31743882G>A	uc021wuu.1	-	6	1885	c.1214C>T	c.(1213-1215)tCa>tTa	p.S405L	OSBPL10_uc003ceu.1_Missense_Mutation_p.S162L|OSBPL10_uc011axf.2_Missense_Mutation_p.S341L	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	405					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTTGAGTTGTGAAATGAGATG	0.428000														58			13		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46801068	46801068	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46801068G>A	uc011dwh.1	+	9	1494	c.1486G>A	c.(1486-1488)Ggg>Agg	p.G496R	MEP1A_uc010jzh.1_Missense_Mutation_p.G468R|MEP1A_uc011dwg.1_Missense_Mutation_p.G190R|MEP1A_uc011dwi.1_Missense_Mutation_p.G368R	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	468	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ATATGGTTTTGGGGTAACTTT	0.493000														77			31		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32256892	32256892	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32256892C>T	uc001bts.1	-	16	3021	c.2963_splice	c.e16-1	p.G988_splice	SPOCD1_uc001btr.1_3'UTR|SPOCD1_uc001btu.3_Intron|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	988					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGCCCAAAGGCCTGCGGGGAA	0.582000														24			6		0	0	1	0	0
DOC2A	8448	broad.mit.edu	37	16	30018572	30018572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30018572C>T	uc002dvn.3	-	5	767	c.576G>A	c.(574-576)ggG>ggA	p.G192G	BOLA2_uc010bzb.1_Intron|DOC2A_uc010vef.2_Non-coding_Transcript|DOC2A_uc002dvo.3_Silent_p.G192G|DOC2A_uc002dvp.3_Silent_p.G192G|DOC2A_uc002dvq.3_Silent_p.G192G	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	Homo sapiens double C2-like domains, alpha (DOC2A), mRNA.	192	C2 1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						CGCGGATCTCCCCAATAAACT	0.622000														62			32		0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91371958	91371958	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:91371958C>T	uc001tbk.3	-	2	340	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K		NM_004950	NP_004941	Q99645	EPYC_HUMAN	Homo sapiens epiphycan (EPYC), mRNA.	83	Poly-Glu.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.E83K(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TCCTCCTCTTCCTCTTCCTGG	0.507000											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		102			37		0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121774626	121774626	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:121774626G>A	uc003idn.3	-	2	497	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	PRDM5_uc003ido.3_Missense_Mutation_p.R83C|PRDM5_uc010ine.3_Missense_Mutation_p.R83C|PRDM5_uc010inf.3_Missense_Mutation_p.R83C|PRDM5_uc003idp.1_Missense_Mutation_p.R83C	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	83	SET.				histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAACGAAGCGAAGCCAGTTG	0.468000														426			36		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833351	24833351	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:24833351C>T	uc001iru.4	+	18	5555	c.5152C>T	c.(5152-5154)Ccg>Tcg	p.P1718S	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.P1401S|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.P554S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1718					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTTGCTAGTTCCGGATGAAGG	0.512000														41			25		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749831	51749832	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:51749831_51749832CC>AT	uc010hlv.3	+	3	2281_2282	c.2042_2043CC>AT	c.(2041-2043)gcc>gAT	p.A681D	GRM2_uc003dbo.4_Missense_Mutation_p.A63D|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	681					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TCACAGGTGGCCATCTGCCTGG	0.673000														40			9		0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100754	8100754	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:8100754C>T	uc001ijz.3	+	2	1285	c.728C>T	c.(727-729)tCc>tTc	p.S243F	GATA3_uc001ika.3_Missense_Mutation_p.S243F	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	243					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CTGGGCGGCTCCCCCACCGGC	0.672000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""							44			20		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71839936	71839936	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71839936G>A	uc010fen.3	+	39	4528	c.4387_splice	c.e39+1	p.D1463_splice	DYSF_uc010fei.3_Splice_Site_p.D1462_splice|DYSF_uc010feh.3_Splice_Site_p.D1431_splice|DYSF_uc002sig.4_Splice_Site_p.D1431_splice|DYSF_uc010yqx.2_Splice_Site|DYSF_uc010feg.3_Splice_Site_p.D1476_splice|DYSF_uc010fee.3_Splice_Site_p.D1445_splice|DYSF_uc010fef.3_Splice_Site_p.D1462_splice|DYSF_uc002sie.3_Splice_Site_p.D1445_splice|DYSF_uc010feo.3_Splice_Site_p.D1477_splice|DYSF_uc010fej.3_Splice_Site_p.D1432_splice|DYSF_uc010fel.3_Splice_Site_p.D1432_splice|DYSF_uc010fem.3_Splice_Site_p.D1446_splice|DYSF_uc002sif.3_Splice_Site_p.D1446_splice|DYSF_uc010fek.3_Splice_Site_p.D1463_splice|DYSF_uc010yqy.2_Splice_Site_p.D326_splice|DYSF_uc010yqz.2_Splice_Site_p.D185_splice	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1445						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGGTGGCCCAGGTAGGGGAAG	0.632000														28			7		0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110980464	110980464	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110980464C>T	uc003ynr.4	-	2	2160	c.1356G>A	c.(1354-1356)aaG>aaA	p.K452K	KCNV1_uc010mcw.3_Silent_p.K452K	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	452						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGGTAAGCTTCTTTAGGGCTT	0.448000														54			20		0	0	1	0	0
TESC	54997	broad.mit.edu	37	12	117494630	117494630	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117494630G>A	uc001twh.3	-	2	354	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	TESC_uc001twi.3_Non-coding_Transcript|TESC_uc021rem.1_Intron	NM_017899	NP_060369	Q96BS2	TESC_HUMAN	Homo sapiens tescalcin (TESC), transcript variant 1, mRNA.	64					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		AAGAAGGCACGAACAATTTTG	0.507000														32			57		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659540	176659540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176659540C>T	uc001gkz.3	+	4	3569	c.2405C>T	c.(2404-2406)cCg>cTg	p.P802L	PAPPA2_uc001gky.1_Missense_Mutation_p.P802L|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	802					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAGGGGCTCCGTTCACCAAC	0.567000														103			12		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120135468	120135468	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:120135468G>A	uc001txj.2	-	45	5934	c.5878C>T	c.(5878-5880)Cgc>Tgc	p.R1960C	CIT_uc001txh.2_Missense_Mutation_p.R1437C|CIT_uc001txi.2_Missense_Mutation_p.R1918C	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1918					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGTTACCTGCGGGAGGTGGAC	0.527000														132			32		0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991461	39991461	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:39991461C>T	uc002xjy.1	-	3	972	c.748G>A	c.(748-750)Gag>Aag	p.E250K		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	250						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTTAGGATCTCGTCTAAGGGA	0.602000														55			18		0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24775279	24775279	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24775279G>A	uc003xed.4	+	2	1944	c.1911G>A	c.(1909-1911)gaG>gaA	p.E637E	NEFM_uc011lac.1_Intron|NEFM_uc010lue.3_Silent_p.E261E	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	637	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton	p.E636K(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CAGTGGAAGAGAAAGGCAAGT	0.507000														115			34		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87029421	87029421	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:87029421C>T	uc009wcs.3	+	3	570	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	CLCA4_uc009wct.3_Intron|CLCA4_uc009wcu.3_Intron	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	176						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			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)		GCCTTTCTACCGTGCTAAGTC	0.398000														75			27		0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026425	182026425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:182026425C>T	uc001goz.3	-	1	929	c.721G>A	c.(721-723)Gag>Aag	p.E241K	ZNF648_uc021pfu.1_Missense_Mutation_p.E241K	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TCTCCGCCCTCGCGCCGGCCC	0.731000														11			4		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46825952	46825952	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46825952G>A	uc003oyo.3	-	16	3977	c.3688C>T	c.(3688-3690)Ctc>Ttc	p.L1230F	GPR116_uc011dwj.1_Missense_Mutation_p.L785F|GPR116_uc011dwk.1_Missense_Mutation_p.L659F|GPR116_uc003oyp.3_Missense_Mutation_p.L1088F|GPR116_uc003oyq.3_Missense_Mutation_p.L1230F|GPR116_uc010jzi.1_Missense_Mutation_p.L902F	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1230					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCCCAAGTGAGGCCCAAGAGT	0.507000														97			41		0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220097337	220097337	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220097337C>T	uc002vkg.3	+	4	664	c.490C>T	c.(490-492)Cga>Tga	p.R164*	ATG9A_uc002vke.1_5'Flank|ATG9A_uc002vkf.1_5'Flank|ANKZF1_uc010zkv.1_Nonsense_Mutation_p.R108*|ANKZF1_uc010zkw.1_5'UTR|ANKZF1_uc002vkh.3_5'UTR|ANKZF1_uc002vki.3_Nonsense_Mutation_p.R164*|ANKZF1_uc002vkj.1_Nonsense_Mutation_p.R152*	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA.	164						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTACCCTCATCGAGTTCTTTT	0.537000														90			35		0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23926680	23926680	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:23926680C>T	uc002nrk.4	-	3	1814	c.1672G>A	c.(1672-1674)Gga>Aga	p.G558R	ZNF681_uc002nrl.4_Missense_Mutation_p.G489R|ZNF681_uc002nrj.4_Missense_Mutation_p.G489R	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GGTTTCTCTCCAGTATGAATT	0.398000														107			9		0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84363153	84363153	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:84363153C>T	uc004een.3	-	0	822	c.822G>A	c.(820-822)atG>atA	p.M274I		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	87	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GGTTCATGTCCATTTGGTTCA	0.448000														52			19		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141093193	141093193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141093193G>A	uc002tvj.1	-	77	13079	c.12107C>T	c.(12106-12108)cCt>cTt	p.P4036L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4036					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.P4036S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCTCTTTTAGGATTTACTGC	0.378000										TSP Lung(27;0.18)				94			36		0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101180539	101180539	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:101180539G>A	uc001kpr.3	-	1	350	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	GOT1_uc009xwi.2_Missense_Mutation_p.P48S	NM_002079	NP_002070	P17174	AATC_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA.	48					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AAAACCCAGGGATGGCAGTCA	0.473000														117			28		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51957554	51957554	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51957554C>T	uc002pwt.3	-	5	1231	c.1164G>A	c.(1162-1164)agG>agA	p.R388R	SIGLEC8_uc010yda.2_Silent_p.R279R|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Silent_p.R295R	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	388			R -> G (in dbSNP:rs3829659).		cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.R388G(1)		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)		CCGATTTCTTCCTGCAGGACC	0.587000														83			32		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105920842	105920842	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105920842C>T	uc001kxw.3	-	26	3609	c.3493G>A	c.(3493-3495)Gag>Aag	p.E1165K	WDR96_uc009xxq.3_Missense_Mutation_p.E473K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1165										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACTTTTTTCTCATAATCTTTG	0.333000														33			12		0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150316934	150316934	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:150316934C>T	uc001eum.4	+	11	1713	c.1551C>T	c.(1549-1551)gcC>gcT	p.A517A	PRPF3_uc009wlp.2_Non-coding_Transcript|PRPF3_uc010pca.2_Silent_p.A476A|PRPF3_uc010pcb.2_Silent_p.A468A|PRPF3_uc009wlq.1_Non-coding_Transcript	NM_004698	NP_004689	O43395	PRPF3_HUMAN	Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.	517					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CCAACGCTGCCCGAAAACTCA	0.468000														133			7		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226093	39226093	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:39226093A>G	uc003cjk.2	-	1	5073	c.4844T>C	c.(4843-4845)gTt>gCt	p.V1615A	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.V298A|XIRP1_uc021wvz.1_Missense_Mutation_p.V1615A	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1615							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)		GTGGCATTCAACCTTGGCTTG	0.572000														134			48		0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74863238	74863238	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:74863238C>T	uc004air.3	+	13	1554	c.1345C>T	c.(1345-1347)Ccg>Tcg	p.P449S	GDA_uc011lse.2_Missense_Mutation_p.P375S|GDA_uc004aiq.3_Missense_Mutation_p.P449S|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.P375S|GDA_uc004ais.3_Missense_Mutation_p.P371S	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	449					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.P449Q(1)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GCAGGTGGTTCCGTTTTCCAG	0.448000														97			24		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79429947	79429947	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:79429947C>T	uc003hlb.2	+	62	10007	c.9567C>T	c.(9565-9567)tcC>tcT	p.S3189S	FRAS1_uc003hlc.1_Silent_p.S191S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3184					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCAAGAAATCCCCCTCCCCAG	0.547000														21			9		0	0	1	0	0
TRA2B	6434	broad.mit.edu	37	3	185638963	185638963	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:185638963G>A	uc003fpv.3	-	5	927	c.651C>T	c.(649-651)cgC>cgT	p.R217R	TRA2B_uc003fpt.3_Non-coding_Transcript|TRA2B_uc003fpu.3_Non-coding_Transcript|TRA2B_uc010hym.3_Silent_p.R117R	NM_004593	NP_001230808	P62995	TRA2B_HUMAN	Homo sapiens transformer 2 beta homolog (Drosophila) (TRA2B), transcript variant 1, mRNA.	217	Linker.				nuclear mRNA splicing, via spliceosome	nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						AATCCCGACGGCGAGAGCTGC	0.418000														72			25		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122001064	122001064	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122001064G>A	uc003eew.4	+	5	2181	c.1743G>A	c.(1741-1743)ggG>ggA	p.G581G	CASR_uc003eev.4_Silent_p.G571G	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	571					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)	GTCCTGATGGGGAGTATAGTG	0.597000														67			31		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167184964	167184964	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:167184964C>T	uc003fes.1	-	2	458	c.387G>A	c.(385-387)gtG>gtA	p.V129V	SERPINI2_uc003fer.1_Silent_p.V119V|SERPINI2_uc003fet.1_Silent_p.V119V	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	119					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.E129E(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACTGTTCTTTCACAGTGAATC	0.368000														75			33		0	0	1	0	0
GPCPD1	56261	broad.mit.edu	37	20	5528378	5528378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:5528378G>A	uc002wme.4	-	19	2161	c.1948C>T	c.(1948-1950)Ccc>Tcc	p.P650S	GPCPD1_uc002wmd.4_Missense_Mutation_p.P469S	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	Homo sapiens glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) (GPCPD1), mRNA.	650					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						AAAGATGAGGGAACAAAGCGG	0.458000														132			66		0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51452325	51452325	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51452325C>T	uc002pue.3	-	4	600	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	KLK5_uc002puf.3_Missense_Mutation_p.E128K|KLK5_uc002pug.3_Missense_Mutation_p.E128K	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	128	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TGCCCAGATTCATAAACTGGT	0.542000														109			38		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237604620	237604620	+	Splice_Site	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:237604620A>G	uc001hyl.1	+	13	1126	c.1006_splice	c.e13-1	p.E336_splice		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	336	MIR 4.				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)			TCCCCTTAGGAAAAATTGGAT	0.358000														55			24		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688164	60688164	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:60688164G>A	uc002sae.1	-	3	2111	c.1883C>T	c.(1882-1884)tCg>tTg	p.S628L	BCL11A_uc002sab.3_Missense_Mutation_p.S628L|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.S297L|BCL11A_uc010ypj.2_Missense_Mutation_p.S594L|BCL11A_uc002sad.1_Missense_Mutation_p.S476L|BCL11A_uc002saf.1_Missense_Mutation_p.S594L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	628					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGGGCTCAGCGAGCTGGGGCT	0.662000			T	IGH@	B-CLL									35			18		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43788217	43788217	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:43788217G>A	uc001uza.4	-	16	2141	c.1841C>T	c.(1840-1842)cCa>cTa	p.P614L	ENOX1_uc001uzc.4_Missense_Mutation_p.P614L|ENOX1_uc001uzb.4_Missense_Mutation_p.P614L	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	614					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GAACATGCGTGGCAGCCTCAT	0.428000														111			13		0	0	1	0	0
OR4F15	390649	broad.mit.edu	37	15	102358832	102358832	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:102358832C>T	uc010uts.2	+	0	443	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTAGCCACTTCCTCTATCATT	0.403000														261			82		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872882	55872882	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55872882C>T	uc010riy.2	+	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(2)|p.R122R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GGCCCATGATCGCTATGCAGC	0.458000										HNSCC(53;0.14)				256			67		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650958	94650958	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94650958G>A	uc001dqj.4	-	16	2229	c.1860C>T	c.(1858-1860)tcC>tcT	p.S620S	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Silent_p.S186S	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	620					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATTTCGTGGGGGATCTCAATT	0.398000														82			37		0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39696876	39696876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:39696876G>A	uc001rly.3	-	35	5042	c.4622C>T	c.(4621-4623)cCt>cTt	p.P1541L	KIF21A_uc001rlv.3_Missense_Mutation_p.P486L|KIF21A_uc001rlw.3_Missense_Mutation_p.P811L|KIF21A_uc001rlx.3_Missense_Mutation_p.P1528L|KIF21A_uc001rlz.3_Missense_Mutation_p.P1488L|KIF21A_uc010skl.2_Missense_Mutation_p.P1504L|KIF21A_uc001rlt.3_Missense_Mutation_p.P161L|KIF21A_uc001rlu.3_Missense_Mutation_p.P161L	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	1541					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATCATAATGAGGGGGTTCAAA	0.388000														119			10		0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48921756	48921756	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48921756G>A	uc010slu.2	+	1	950	c.950G>A	c.(949-951)tGg>tAg	p.W317*		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CAGGCCAGATGGAAGAGACCA	0.577000														50			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590249	179590249	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179590249C>T	uc021vsy.1	-	67	17175	c.16950G>A	c.(16948-16950)gtG>gtA	p.V5650V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V2311V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6577	Ig-like 37.						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)			TTTCTCTAATCACTTCTTCCT	0.438000														59			24		0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22311705	22311705	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22311705G>A	uc002zvs.3	-	17	2805	c.2370C>T	c.(2368-2370)ctC>ctT	p.L790L	TOP3B_uc010gtm.2_3'UTR|TOP3B_uc002zvt.4_Silent_p.L790L|TOP3B_uc010gtl.3_Silent_p.L790L	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	790					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CATCGCCCGGGAGTGGGGACT	0.642000														21			4		0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105484080	105484080	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105484080C>T	uc010qqu.1	-	2	203	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	SH3PXD2A_uc001kxj.1_Missense_Mutation_p.E116K	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	116	PX.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGGAAGACTTCGTCACACTGT	0.552000														27			14		0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224134	248224134	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248224134G>A	uc001idx.1	+	0	151	c.151G>A	c.(151-153)Gac>Aac	p.D51N	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CATCTTCTTGGACACCCATCT	0.413000														416			159		0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75157303	75157303	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:75157303A>T	uc003yae.3	-	3	1406	c.1366T>A	c.(1366-1368)Tat>Aat	p.Y456N	JPH1_uc003yaf.3_Missense_Mutation_p.Y456N|JPH1_uc003yag.1_Missense_Mutation_p.Y320N	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	456					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)			CCTTTGCGATAAAAATGAGGA	0.483000														116			15		0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27135420	27135420	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:27135420G>A	uc003sye.3	-	0	206	c.112C>T	c.(112-114)Cag>Tag	p.Q38*	HOXA1_uc003syd.3_Nonsense_Mutation_p.Q38*|HOXA1_uc022aao.1_Nonsense_Mutation_p.Q38*|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	38						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCGCACGACTGGAAAGTTGTA	0.617000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		109			46		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170037998	170037998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170037998C>T	uc002ues.3	-	51	10342	c.10129G>A	c.(10129-10131)Gat>Aat	p.D3377N		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3377					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAGAGTAGATCATTGGTGTAA	0.418000														78			22		0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133942568	133942568	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:133942568C>T	uc004caa.1	+	13	2667	c.2569C>T	c.(2569-2571)Cct>Tct	p.P857S		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	857	Laminin EGF-like 8.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CGCCCTGGCCCCTCGACCCGC	0.647000														48			46		0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	16021923	16021923	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:16021923G>A	uc002wou.3	+	16	1495	c.1231_splice	c.e16+1	p.V411_splice	MACROD2_uc002wot.3_Splice_Site_p.A411_splice|MACROD2_uc002woz.3_Splice_Site_p.V176_splice|MACROD2_uc002wpb.3_Splice_Site_p.A176_splice|MACROD2_uc002wpd.3_Splice_Site_p.V62_splice	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	411										breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGGTCCTGATGGTAAGGTTCT	0.443000														26			18		0	0	1	0	0
AQP6	363	broad.mit.edu	37	12	50366976	50366977	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:50366976_50366977GG>AA	uc001rvr.1	+	0	713_714	c.20_21GG>AA	c.(19-21)ggg>gAA	p.G7E	AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_Non-coding_Transcript	NM_001652	NP_001643	Q13520	AQP6_HUMAN	Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA.	7					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GTGGAGCCAGGGGGACGTGGCT	0.594000														43			8		0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235949554	235949554	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:235949554C>T	uc002vvp.3	+	3	534	c.141C>T	c.(139-141)ctC>ctT	p.L47L	SH3BP4_uc010fym.3_Silent_p.L47L|SH3BP4_uc002vvq.3_Silent_p.L47L	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	47					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GTGCCTTGCTCGTAGACAACC	0.542000														97			41		0	0	1	0	0
KCNE1	3753	broad.mit.edu	37	21	35821901	35821901	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:35821901G>A	uc021wit.1	-	0	32	c.32C>T	c.(31-33)cCc>cTc	p.P11L	KCNE1_uc010gmp.3_Missense_Mutation_p.P11L|KCNE1_uc002ytz.3_Missense_Mutation_p.P11L|KCNE1_uc010gmq.3_Missense_Mutation_p.P11L|KCNE1_uc010gmr.3_Missense_Mutation_p.P11L|KCNE1_uc010gms.3_Missense_Mutation_p.P11L|KCNE1_uc002yua.3_Non-coding_Transcript	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA.	11					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	GGTCAGAAAGGGCGTCACCGC	0.587000														39			13		0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62632583	62632583	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62632583C>T	uc002yho.3	+	8	1345	c.1177C>T	c.(1177-1179)Ctt>Ttt	p.L393F	PRPF6_uc002yhp.3_Missense_Mutation_p.L393F	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	393					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	p.V392V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GAAGCGGGTTCTTCGGAAAGG	0.587000														39			23		0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137570244	137570244	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:137570244G>A	uc003vtw.3	-	8	1444	c.1048C>T	c.(1048-1050)Ctc>Ttc	p.L350F	CREB3L2_uc003vtx.2_Missense_Mutation_p.L350F|CREB3L2_uc003vtv.3_Missense_Mutation_p.L287F	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	350	Leucine-zipper.				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TGCTGAAGGAGAGTCCTGCCA	0.532000			T	FUS	fibromyxoid sarcoma									63			25		0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114377567	114377567	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:114377567C>T	uc001eds.3	-	13	1989	c.1859G>A	c.(1858-1860)tGg>tAg	p.W620*	PTPN22_uc021orx.1_Nonsense_Mutation_p.W620*|PTPN22_uc009wgq.3_Nonsense_Mutation_p.W565*|PTPN22_uc021ory.1_Nonsense_Mutation_p.W596*|PTPN22_uc010owo.2_Nonsense_Mutation_p.W376*|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Nonsense_Mutation_p.W620*|PTPN22_uc009wgs.2_Nonsense_Mutation_p.W493*|PTPN22_uc001edu.2_Nonsense_Mutation_p.W620*	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	620			R -> W (confers susceptibility to systemic lupus erythematosus and type 1 diabetes mellitus; affects CSK kinase binding; dbSNP:rs2476601).		T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCAGGTGTCCATACAGGAAG	0.383000														193			13		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25890627	25890627	+	Silent	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:25890627A>T	uc003xes.2	-	5	790	c.525T>A	c.(523-525)acT>acA	p.T175T	DOCK5_uc003xek.3_Intron|EBF2_uc003xet.2_Silent_p.T175T	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	175					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GGTCCGATGGAGTCTCATTTC	0.388000														119			7		0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166408691	166408691	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:166408691G>A	uc003irg.4	+	5	1352	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	359					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GACCTACTGGGAGGATAACAA	0.443000														56			18		0	0	1	0	0
TTC23	64927	broad.mit.edu	37	15	99759112	99759112	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:99759112G>A	uc002bur.3	-	5	977	c.446C>T	c.(445-447)tCc>tTc	p.S149F	TTC23_uc002bus.3_Missense_Mutation_p.S149F|TTC23_uc002but.3_Missense_Mutation_p.S149F|TTC23_uc002buu.3_Missense_Mutation_p.S149F|TTC23_uc002buv.3_Missense_Mutation_p.S149F|TTC23_uc002bux.3_Missense_Mutation_p.S149F|TTC23_uc002buw.3_Missense_Mutation_p.S149F|TTC23_uc010boq.3_Non-coding_Transcript|TTC23_uc002buy.3_Missense_Mutation_p.S149F|TTC23_uc010bor.3_Missense_Mutation_p.S149F|TTC23_uc002buz.2_Missense_Mutation_p.S149F	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	149							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CTTTTGAAGGGAGAGTAAAGC	0.393000														105			79		0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103061833	103061833	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:103061833C>T	uc003vbz.3	-	2	391	c.129G>A	c.(127-129)gcG>gcA	p.A43A	SLC26A5_uc003vbt.2_Silent_p.A43A|SLC26A5_uc003vbu.2_Silent_p.A43A|SLC26A5_uc003vbv.2_Silent_p.A43A|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Silent_p.A43A	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	43					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.I42I(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TCAGCTTATCCGCAATGGAAT	0.433000														49			10		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74659801	74659801	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74659801G>A	uc002axt.2	-	0	281	c.126C>T	c.(124-126)acC>acT	p.T42T	CYP11A1_uc002axs.2_5'Flank|CYP11A1_uc010bjm.1_5'Flank|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.3_Silent_p.T42T	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	42					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GAGGACTGCGGGTGGAGATGC	0.622000														57			52		0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150768843	150768843	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150768843C>T	uc022apz.1	+	14	3299	c.2259C>T	c.(2257-2259)gtC>gtT	p.V753V	SLC4A2_uc003wit.4_Silent_p.V753V|SLC4A2_uc011kve.2_Silent_p.V744V|SLC4A2_uc003wiu.4_Silent_p.V739V	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	753	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGCGTGGTCTTCTGCCTGC	0.622000														106			41		0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52775175	52775175	+	Silent	SNP	C	T	T	rs114877532	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52775175C>T	uc001sah.1	-	4	1095	c.1047G>A	c.(1045-1047)cgG>cgA	p.R349R		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	349	Coil 2.|Rod.					keratin filament	structural constituent of epidermis	p.R349Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCATCAGCCCGGCTGCGCC	0.577000														193			38		0	0	1	0	0
TRAF2	7186	broad.mit.edu	37	9	139815662	139815663	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139815662_139815663CC>TT	uc004cjv.3	+	8	1190_1191	c.1133_1134CC>TT	c.(1132-1134)tcc>tTT	p.S378F	TRAF2_uc010nbu.3_Missense_Mutation_p.S378F|TRAF2_uc011mek.2_Missense_Mutation_p.S367F|TRAF2_uc010nbw.3_Missense_Mutation_p.S353F	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	Homo sapiens TNF receptor-associated factor 2 (TRAF2), mRNA.	378	MATH.				activation of NF-kappaB-inducing kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|protein K63-linked ubiquitination|protein autoubiquitination|protein homotrimerization|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GCCATCTTCTCCCCAGGTGTGG	0.599000														41			16		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	825636	825636	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:825636C>T	uc002cjz.1	-	4	1125	c.1125G>A	c.(1123-1125)ggG>ggA	p.G375G		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	103					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TCGGGTCATCCCCACGGCCAC	0.716000														13			17		0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211158482	211158482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:211158482C>T	uc002vec.3	-	4	650	c.521G>A	c.(520-522)gGt>gAt	p.G174D	MYL1_uc002veb.3_Missense_Mutation_p.G130D	NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	174	EF-hand 3.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GTCTTCTTGACCTGCCATCAG	0.428000														216			51		0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55081805	55081805	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55081805C>T	uc001cxn.3	-	2	435	c.303G>A	c.(301-303)ggG>ggA	p.G101G	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	101						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTGCCGAGCCCTTCTACAT	0.512000														75			10		0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50324451	50324451	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:50324451C>T	uc002egd.1	+	1	523	c.255C>T	c.(253-255)gtC>gtT	p.V85V	ADCY7_uc002egb.1_Silent_p.V85V|ADCY7_uc002egc.2_Silent_p.V85V	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	85					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGATGTACGTCGAGTGTCTCC	0.642000														52			29		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356729	42356729	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:42356729G>A	uc001wvm.3	+	2	2099	c.901G>A	c.(901-903)Gga>Aga	p.G301R	LRFN5_uc010ana.3_Missense_Mutation_p.G301R	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	301	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGTCCTGGAGGGACAAAGGGC	0.468000										HNSCC(30;0.082)				97			41		0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74365888	74365888	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:74365888C>T	uc003hhb.3	+	11	1621	c.1590C>T	c.(1588-1590)acC>acT	p.T530T		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	530	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTTATTTACCTTTCACGCAG	0.393000														60			7		0	0	1	0	0
CPLX3	594855	broad.mit.edu	37	15	75122494	75122494	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:75122494C>T	uc002ayu.1	+	2	1504	c.276C>T	c.(274-276)atC>atT	p.I92I		NM_001030005	NP_001025176	Q8WVH0	CPLX3_HUMAN	Homo sapiens complexin 3 (CPLX3), mRNA.	92						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						AGAGCCAGATCCAGATGGCAG	0.612000														66			17		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40231823	40231823	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:40231823G>A	uc003cka.3	+	9	1669	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.E512K|MYRIP_uc010hhw.3_Missense_Mutation_p.E423K|MYRIP_uc011ayz.2_Missense_Mutation_p.E325K|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	512	Actin-binding.|Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GGACAGCAGCGAGCCGGAGGA	0.647000														73			34		0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959603	45959603	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45959603G>A	uc002zfh.1	-	0	476	c.431C>T	c.(430-432)cCt>cTt	p.P144L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	144	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCAGCAAACAGGCACACAGCA	0.582000														144			40		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173542416	173542416	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:173542416G>A	uc001giz.2	-	8	1374	c.951C>T	c.(949-951)ttC>ttT	p.F317F	SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	317					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CAATGCCAAAGAAAGCATATA	0.284000														41			22		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103427792	103427792	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:103427792C>T	uc001dum.3	-	39	3408	c.3090G>A	c.(3088-3090)ggG>ggA	p.G1030G	COL11A1_uc001duk.3_Silent_p.G214G|COL11A1_uc001dul.3_Silent_p.G1018G|COL11A1_uc001dun.3_Silent_p.G979G|COL11A1_uc009weh.3_Silent_p.G902G	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1018	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)		GTCCATCTTTCCCTGAGATAC	0.383000														77			41		0	0	1	0	0
MPV17L2	84769	broad.mit.edu	37	19	18304780	18304780	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18304780C>T	uc010ebj.3	+	0	721	c.102C>T	c.(100-102)gtC>gtT	p.V34V	MPV17L2_uc002nid.3_Silent_p.V98V			Q567V2	M17L2_HUMAN	Homo sapiens MPV17 mitochondrial membrane protein-like 2 (MPV17L2), nuclear gene encoding mitochondrial protein, mRNA.	98						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						TCCCAAATGTCCTCAAGAAGG	0.577000														30			21		0	0	1	0	0
MB	4151	broad.mit.edu	37	22	36007060	36007060	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:36007060C>T	uc003anz.3	-	1	269	c.189G>A	c.(187-189)aaG>aaA	p.K63K	MB_uc003aoa.3_Silent_p.K63K|MB_uc003aob.3_Silent_p.K63K	NM_005368	NP_976312	P02144	MYG_HUMAN	Homo sapiens myoglobin (MB), transcript variant 1, mRNA.	63							heme binding|oxygen transporter activity			lung(1)	1						CACCATGCTTCTTTAAGTCCT	0.547000														91			18		0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154744764	154744764	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154744764G>A	uc021pah.1	-	2	1449	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	KCNN3_uc001ffo.3_Missense_Mutation_p.P74S|KCNN3_uc001ffp.3_Missense_Mutation_p.P379S|KCNN3_uc009wox.1_Missense_Mutation_p.P379S	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	384						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TACTCGCCAGGAATGGGGTGG	0.597000														30			8		0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37690748	37690748	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37690748C>T	uc003arf.3	+	2	266	c.150C>T	c.(148-150)ttC>ttT	p.F50F	CYTH4_uc003ard.4_Silent_p.F50F|CYTH4_uc003are.2_Silent_p.F50F|CYTH4_uc011amw.2_5'UTR	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	50					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TCGACTGCTTCGAGAGTGCGG	0.592000														73			35		0	0	1	0	0
CEPT1	10390	broad.mit.edu	37	1	111724867	111724867	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111724867C>T	uc001eah.1	+	5	981	c.773C>T	c.(772-774)aCc>aTc	p.T258I	CEPT1_uc001eai.1_Missense_Mutation_p.T258I|CEPT1_uc001eaj.1_Missense_Mutation_p.T258I	NM_001007794	NP_006081	Q9Y6K0	CEPT1_HUMAN	Homo sapiens choline/ethanolamine phosphotransferase 1 (CEPT1), transcript variant 2, mRNA.	258						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GTAGCAGGGACCATATTTTCC	0.338000														48			17		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129149928	129149928	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:129149928C>T	uc022cdu.1	+	2	3224	c.3180C>T	c.(3178-3180)ttC>ttT	p.F1060F	BCORL1_uc010nrd.1_Silent_p.F962F	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1060					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ATGTGGTCTTCAATTTAGCCA	0.617000														14			22		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21965021	21965021	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21965021G>A	uc001rfh.3	-	33	4193	c.4173C>T	c.(4171-4173)atC>atT	p.I1391I	ABCC9_uc001rfi.1_Silent_p.I1391I	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1391	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCTGCAGAATGATTGAAAGTC	0.383000														112			11		0	0	1	0	0
LYZL4	131375	broad.mit.edu	37	3	42445550	42445550	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42445550C>T	uc003cle.3	-	3	608	c.359G>A	c.(358-360)gGg>gAg	p.G120E		NM_144634	NP_653235	Q96KX0	LYZL4_HUMAN	Homo sapiens lysozyme-like 4 (LYZL4), mRNA.	120					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.G120V(2)		central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TGCTCCCATCCCTTCTTTTCC	0.383000														47			17		0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27948152	27948152	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27948152C>T	uc001boj.3	-	2	492	c.346G>A	c.(346-348)Gag>Aag	p.E116K	FGR_uc001bok.3_Missense_Mutation_p.E116K|FGR_uc001bol.3_Missense_Mutation_p.E116K|FGR_uc001bom.3_Missense_Mutation_p.E116K	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	116	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GACCGAGCCTCCCACCAGTCA	0.592000														70			27		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113388767	113388767	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113388767C>T	uc001tug.3	+	6	1731	c.1644C>T	c.(1642-1644)gcC>gcT	p.A548A		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	548	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGCTGCCTGCCTTCGATGCTG	0.597000														45			6		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57383352	57383352	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57383352C>T	uc001cyo.2	+	10	1850	c.1718C>T	c.(1717-1719)tCg>tTg	p.S573L		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	573	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.S573S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGAGGGGCCTCGTGTCCAGGG	0.582000														55			21		0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382208	41382208	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41382208C>T	uc003jmm.1	-	1	634	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	178	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AAACTAACTTCCTGGGCAAAA	0.448000														180			17		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28409123	28409123	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:28409123C>T	uc001iua.1	-	12	1291	c.887_splice	c.e12+1	p.R296_splice	MPP7_uc009xkz.1_Splice_Site|MPP7_uc001iub.1_Splice_Site_p.R296_splice|MPP7_uc009xla.2_Splice_Site_p.R296_splice|MPP7_uc010qdv.1_Splice_Site	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	296	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AGCAGCTCACCTTTCCTGGAA	0.443000														65			15		0	0	1	0	0
SHROOM1	134549	broad.mit.edu	37	5	132161206	132161206	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:132161206G>A	uc003kxx.3	-	3	1432	c.627C>T	c.(625-627)gcC>gcT	p.A209A	SHROOM1_uc003kxy.2_Silent_p.A209A	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	209	ASD1.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCCCGGCCGGCAGTTCCTG	0.771000														5			6		0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130911970	130911970	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:130911970G>A	uc002tqq.2	-	15	2805	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	SMPD4_uc002tqo.2_Silent_p.F84F|SMPD4_uc002tqp.2_Silent_p.F291F|SMPD4_uc010yzy.2_Silent_p.F301F|SMPD4_uc010yzz.2_Silent_p.F216F|SMPD4_uc002tqs.2_Silent_p.F420F|SMPD4_uc002tqr.2_Silent_p.F523F|SMPD4_uc010zaa.2_Silent_p.F410F|SMPD4_uc010zab.2_Silent_p.F450F|SMPD4_uc002tqt.2_Silent_p.F401F|SMPD4_uc010zac.2_Silent_p.F293F|SMPD4_uc010zad.2_Silent_p.F188F	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	513					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AGGGTGACAGGAAGCTCCCAG	0.607000														11			6		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763148	92763148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92763148C>T	uc003umh.1	-	4	3353	c.2137G>A	c.(2137-2139)Gac>Aac	p.D713N	SAMD9L_uc003umj.1_Missense_Mutation_p.D713N|SAMD9L_uc003umi.1_Missense_Mutation_p.D713N|SAMD9L_uc010lfb.1_Missense_Mutation_p.D713N|SAMD9L_uc003umk.1_Missense_Mutation_p.D713N|SAMD9L_uc010lfc.1_Missense_Mutation_p.D713N|SAMD9L_uc010lfd.1_Missense_Mutation_p.D713N|SAMD9L_uc022ahh.1_Missense_Mutation_p.D713N	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	713										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCATAACTGTCCCTTTTAACA	0.343000														72			43		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102036332	102036332	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:102036332G>A	uc001tii.3	+	8	866	c.726G>A	c.(724-726)aaG>aaA	p.K242K	MYBPC1_uc001tif.2_Silent_p.K255K|MYBPC1_uc001tig.3_Silent_p.K267K|MYBPC1_uc010svr.2_Silent_p.K242K|MYBPC1_uc010svs.2_Silent_p.K242K|MYBPC1_uc001tij.3_Silent_p.K242K|MYBPC1_uc010svt.2_Silent_p.K230K|MYBPC1_uc010svu.2_Silent_p.K223K|MYBPC1_uc001tik.3_Silent_p.K216K|MYBPC1_uc001tih.3_Silent_p.K267K|MYBPC1_uc010svq.2_Silent_p.K229K	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	242					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AGCGACTCAAGCGCATGCGCA	0.617000														16			7		0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110447439	110447439	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:110447439C>T	uc003hzk.3	+	16	2904	c.2849C>T	c.(2848-2850)tCc>tTc	p.S950F	SEC24B_uc003hzl.3_Missense_Mutation_p.S915F|SEC24B_uc011cfp.2_Missense_Mutation_p.S980F|SEC24B_uc011cfq.2_Missense_Mutation_p.S949F|SEC24B_uc011cfr.2_Missense_Mutation_p.S914F	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	950					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GATTTGTTATCCCTTGCCAAC	0.348000														88			39		0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154562857	154562857	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154562857G>A	uc001ffh.3	-	6	2541	c.2299C>T	c.(2299-2301)Cgc>Tgc	p.R767C	ADAR_uc021pag.1_Missense_Mutation_p.R472C|ADAR_uc001ffj.3_Missense_Mutation_p.R748C|ADAR_uc001ffi.3_Missense_Mutation_p.R767C|ADAR_uc001ffk.3_Missense_Mutation_p.R472C	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	767	DRBM 3.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	p.R767L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GGGAACCAGCGACCCCCAACT	0.522000														74			27		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431416	140431416	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140431416G>A	uc003lik.1	+	0	438	c.361G>A	c.(361-363)Gtc>Atc	p.V121I		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	121	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGGCCGAGGTCAGGGTATT	0.517000														57			18		0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945863	55945863	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55945863C>T	uc010spp.2	+	0	853	c.853C>T	c.(853-855)Ccc>Tcc	p.P285S		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CTTACTGAATCCCTTCATATA	0.348000														64			22		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10906962	10906962	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:10906962C>T	uc002yip.1	-	23	1967	c.1599G>A	c.(1597-1599)gtG>gtA	p.V533V	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.V515V|TPTE_uc002yir.1_Silent_p.V495V|TPTE_uc010gkv.1_Silent_p.V395V	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	533	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D533N(1)|p.S532S(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)		AAAGTATCTCCACGGCAAAAT	0.353000														82			7		0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74477528	74477528	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:74477528G>A	uc003hhd.1	-	1	204	c.81C>T	c.(79-81)ctC>ctT	p.L27L	RASSF6_uc003hhc.1_5'UTR|RASSF6_uc010iik.1_5'UTR|RASSF6_uc010iil.1_Intron	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	27					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CCTCCTTTTTGAGATGGTCTG	0.333000														103			45		0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88813623	88813623	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:88813623C>T	uc010iko.1	+	1	567	c.567C>T	c.(565-567)ggC>ggT	p.G189G						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		AGTTCATAGGCTATCCCATCA	0.418000														82			31		0	0	1	0	0
CLDN10	9071	broad.mit.edu	37	13	96205054	96205054	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:96205054C>T	uc001vmh.2	+	0	108	c.47C>T	c.(46-48)tCa>tTa	p.S16L	CLDN10_uc001vmg.2_Intron|CLDN10_uc010tii.1_Intron	NM_006984	NP_008915	P78369	CLD10_HUMAN	Homo sapiens claudin 10 (CLDN10), transcript variant b, mRNA.	16					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GTCTCCATCTCAGGCTGGGTA	0.652000														33			12		0	0	1	0	0
C1orf216	127703	broad.mit.edu	37	1	36181917	36181917	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:36181917G>A	uc001bzh.1	-	1	494	c.6C>T	c.(4-6)ttC>ttT	p.F2F	C1orf216_uc021oli.1_Silent_p.F2F	NM_152374	NP_689587	Q8TAB5	CA216_HUMAN	Homo sapiens chromosome 1 open reading frame 216 (C1orf216), mRNA.	2										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GCTGGATGGCGAACATCTAGC	0.582000											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			8		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34109088	34109088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34109088C>T	uc001zhi.3	+	74	10598	c.10528C>T	c.(10528-10530)Cat>Tat	p.H3510Y	RYR3_uc010bar.3_Missense_Mutation_p.H3505Y	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3510					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTCTTCCTCCATGGCTATCA	0.463000														17			7		0	0	1	0	0
TMEM74B	55321	broad.mit.edu	37	20	1162161	1162161	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:1162161C>A	uc002weq.1	-	1	774	c.102G>T	c.(100-102)aaG>aaT	p.K34N	TMEM74B_uc010gaa.1_Missense_Mutation_p.K34N	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	Homo sapiens transmembrane protein 74B (TMEM74B), mRNA.	34						integral to membrane	protein binding										TGCTCAGTGTCTTCAGTTCCA	0.587000														52			4		0.00024832	0.000248618	1	1	0
CAD	790	broad.mit.edu	37	2	27465619	27465619	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27465619C>T	uc002rji.3	+	40	6516	c.6354C>T	c.(6352-6354)ttC>ttT	p.F2118F	CAD_uc010eyw.3_Silent_p.F2055F	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	2118	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGCGGGCCTTCGTGGCCTCCC	0.657000														45			24		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51914542	51914542	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51914542C>T	uc002pwo.3	-	10	2127	c.1905G>A	c.(1903-1905)aaG>aaA	p.K635K	SIGLEC10_uc002pwp.3_Silent_p.K577K|SIGLEC10_uc021uyl.1_Silent_p.K457K|SIGLEC10_uc002pwq.3_Silent_p.K482K|SIGLEC10_uc010ycz.2_Silent_p.K492K|SIGLEC10_uc002pws.2_Silent_p.K392K|SIGLEC10_uc002pwr.3_Silent_p.K540K|SIGLEC10_uc010ycy.2_Silent_p.K450K|SIGLEC10_uc010eow.3_Silent_p.K352K	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	635					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TTTTCTGGTTCTTCTTTGATT	0.532000														133			51		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16272764	16272764	+	Missense_Mutation	SNP	C	T	T	rs57794451	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:16272764C>T	uc002den.4	-	17	2343	c.2306G>A	c.(2305-2307)aGa>aAa	p.R769K	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	769	ABC transporter 1.				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)		AGCTGCCTTTCTGTATACAGC	0.602000														48			17		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156742096	156742096	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156742096C>T	uc021ygm.1	+	12	1485	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	CYFIP2_uc011ddn.2_Silent_p.F424F|CYFIP2_uc011ddo.2_Silent_p.F254F|CYFIP2_uc021ygn.1_Silent_p.F449F|CYFIP2_uc021ygo.1_Silent_p.F449F|CYFIP2_uc003lwt.3_Silent_p.F328F|CYFIP2_uc011ddp.2_Silent_p.F184F	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	450					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATTTGCCTTCGTTGAGGTAG	0.527000														21			8		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72955525	72955525	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:72955525C>T	uc003pga.3	+	10	2166	c.2089C>T	c.(2089-2091)Ccc>Tcc	p.P697S	RIMS1_uc011dyb.2_Missense_Mutation_p.P323S|RIMS1_uc003pgc.3_Missense_Mutation_p.P323S|RIMS1_uc010kaq.3_Missense_Mutation_p.P171S|RIMS1_uc011dyc.2_Missense_Mutation_p.P171S|RIMS1_uc010kar.3_Missense_Mutation_p.P90S|RIMS1_uc011dyd.2_Missense_Mutation_p.P156S|RIMS1_uc003pgb.4_Missense_Mutation_p.P323S|RIMS1_uc010kas.1_Missense_Mutation_p.P156S	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	697					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TAGTGACATTCCCCGGATTCC	0.393000														45			22		0	0	1	0	0
DTNB	1838	broad.mit.edu	37	2	25678335	25678335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:25678335G>A	uc002rgh.3	-	10	1358	c.1108C>T	c.(1108-1110)Cac>Tac	p.H370Y	DTNB_uc002rgg.3_Intron|DTNB_uc010yko.2_Missense_Mutation_p.H313Y|DTNB_uc002rgi.3_Missense_Mutation_p.H370Y|DTNB_uc002rgj.3_Missense_Mutation_p.H370Y|DTNB_uc002rgk.3_Intron|DTNB_uc002rgl.3_Intron|DTNB_uc002rgq.3_Missense_Mutation_p.H370Y|DTNB_uc002rgn.3_Missense_Mutation_p.H166Y|DTNB_uc010ykp.2_Missense_Mutation_p.H166Y|DTNB_uc002rgr.1_Missense_Mutation_p.H359Y|DTNB_uc010ykq.1_Missense_Mutation_p.H223Y	NM_021907	NP_068707	O60941	DTNB_HUMAN	Homo sapiens dystrobrevin, beta (DTNB), transcript variant 1, mRNA.	370						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGCCAAGTGACTGGGTATA	0.527000														11			6		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15831419	15831419	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:15831419C>T	uc002ddx.3	-	25	3308	c.3201G>A	c.(3199-3201)ctG>ctA	p.L1067L	MYH11_uc002ddv.3_Silent_p.L1067L|MYH11_uc002ddw.3_Silent_p.L1060L|MYH11_uc002ddy.3_Silent_p.L1060L|MYH11_uc010bvg.3_Silent_p.L892L	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1060					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.D1066N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CATCACCCTCCAGCTTCCGTT	0.587000			T	CBFB	AML									75			22		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604082	54604082	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:54604082C>T	uc003dhf.3	+	7	887	c.839C>T	c.(838-840)tCa>tTa	p.S280L	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.S186L|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.S14L	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	280	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CAAACAGTCTCATCCATTTTG	0.448000														117			54		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323399	79323399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:79323399G>A	uc010mpk.3	-	7	3915	c.3791C>T	c.(3790-3792)tCc>tTc	p.S1264F	PRUNE2_uc022bih.1_Missense_Mutation_p.S1086F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1264					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGCATCTGGGGAATGAGTGTC	0.478000														29			16		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118596651	118596651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:118596651G>A	uc001ehk.2	-	19	2856	c.2788C>T	c.(2788-2790)Cct>Tct	p.P930S	SPAG17_uc021oss.1_Missense_Mutation_p.P80S	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	930						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AAAATGAAAGGAATCTTTTCC	0.313000														36			6		0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3783164	3783164	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3783164C>T	uc002lyt.3	-	6	1036	c.636G>A	c.(634-636)cgG>cgA	p.R212R	MATK_uc002lyv.3_Silent_p.R213R|MATK_uc002lyu.3_Silent_p.R171R|MATK_uc010dtq.3_Silent_p.R212R	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	212					cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCGTGTTTCCGCTTTGGTC	0.652000														80			19		0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954498	12954498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12954498G>A	uc001auo.3	-	2	858	c.785C>T	c.(784-786)cCa>cTa	p.P262L		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	262										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGAGGAATGGAGAGTCCAA	0.473000														286			23		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65456139	65456139	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:65456139C>T	uc003dmn.3	-	4	1304	c.778G>A	c.(778-780)Gag>Aag	p.E260K	MAGI1_uc003dmm.3_Missense_Mutation_p.E260K|MAGI1_uc003dmo.3_Missense_Mutation_p.E260K|MAGI1_uc003dmp.3_Missense_Mutation_p.E260K|MAGI1_uc010hny.2_Missense_Mutation_p.E145K|MAGI1_uc021xac.1_Missense_Mutation_p.E261K|MAGI1_uc003dmr.3_Missense_Mutation_p.E261K	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	260	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AGAGTGTGCTCCTCTTGTTCA	0.458000														81			14		0	0	1	0	0
GNA15	2769	broad.mit.edu	37	19	3151807	3151807	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3151807C>T	uc002lxf.2	+	3	846	c.588C>T	c.(586-588)tgC>tgT	p.C196C		NM_002068	NP_002059	P30679	GNA15_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA.	196					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		ACGAGTACTGCTTCTCCGTGC	0.647000														110			9		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38537884	38537884	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:38537884C>T	uc002yvz.3	+	32	3473	c.3368C>T	c.(3367-3369)cCc>cTc	p.P1123L	TTC3_uc011aee.1_Missense_Mutation_p.P813L|TTC3_uc002ywa.3_Missense_Mutation_p.P1123L|TTC3_uc002ywb.3_Missense_Mutation_p.P1123L|TTC3_uc010gnf.3_Missense_Mutation_p.P888L|TTC3_uc002ywc.3_Missense_Mutation_p.P813L|TTC3_uc002ywd.1_Missense_Mutation_p.P187L	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1123					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GAACATGGTCCCTTGGACATG	0.338000														170			79		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10387188	10387188	+	Silent	SNP	G	A	A	rs111706887		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10387188G>A	uc003bvt.3	-	17	3022	c.2583C>T	c.(2581-2583)atC>atT	p.I861I	ATP2B2_uc003bvv.3_Silent_p.I816I|ATP2B2_uc003bvw.3_Silent_p.I816I|ATP2B2_uc010hdo.3_Silent_p.I566I	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	861					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTGCCTTGACGATGCTGCTGA	0.577000														60			27		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35823538	35823538	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35823538G>A	uc010edt.3	+	2	207	c.123G>A	c.(121-123)tgG>tgA	p.W41*	CD22_uc010edu.3_Nonsense_Mutation_p.W41*|CD22_uc010edv.3_Nonsense_Mutation_p.W41*|CD22_uc002nzb.4_Nonsense_Mutation_p.W41*|CD22_uc010xst.2_5'UTR	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	41	Ig-like V-type.				cell adhesion		protein binding|sugar binding	p.W41*(2)|p.V40V(1)		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)	CCTGCGTCTGGATCCCCTGCA	0.502000														81			30		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768165	117768165	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117768165C>T	uc001twn.2	-	1	1421	c.710G>A	c.(709-711)gGa>gAa	p.G237E	NOS1_uc001twm.2_Missense_Mutation_p.G237E	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	237	PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CACCTGGATTCCCATATCTTT	0.557000														81			23		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119115959	119115959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:119115959C>T	uc004bjn.3	+	16	4615	c.4234C>T	c.(4234-4236)Cct>Tct	p.P1412S	PAPPA_uc011lxq.2_Missense_Mutation_p.P787S	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1412	Sushi 3.				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						AGCTTGTGTTCCTGTGACCTG	0.507000														76			44		0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46326873	46326873	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46326873C>T	uc002zgd.2	-	2	329	c.285G>A	c.(283-285)caG>caA	p.Q95Q	ITGB2_uc002zgf.3_Silent_p.Q95Q|ITGB2_uc011afl.1_Silent_p.Q17Q|ITGB2_uc010gpw.2_Silent_p.Q95Q|ITGB2_uc002zgg.2_Silent_p.Q95Q	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	95					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	ACAGCTGCTTCTGGCCCCCAT	0.617000														69			28		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69329379	69329379	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:69329379G>A	uc002ars.2	+	7	1241	c.1200G>A	c.(1198-1200)tgG>tgA	p.W400*	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Nonsense_Mutation_p.W354*|NOX5_uc002arp.2_Nonsense_Mutation_p.W382*|NOX5_uc010bid.2_Nonsense_Mutation_p.W365*|NOX5_uc010bie.2_Nonsense_Mutation_p.W200*|NOX5_uc002arr.2_Nonsense_Mutation_p.W372*|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	400	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGTTCTATTGGACTCACCTGT	0.557000														151			112		0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74328431	74328431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74328431G>A	uc010wtb.1	-	3	288	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	PRPSAP1_uc010wta.1_Missense_Mutation_p.P126S	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	97					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GGGAAGTAGGGGATGACCCCA	0.517000														108			44		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27444208	27444208	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27444208C>T	uc002rji.3	+	2	507	c.345C>T	c.(343-345)ggC>ggT	p.G115G	CAD_uc010eyw.3_Silent_p.G115G	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	115	GATase (Glutamine amidotransferase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCATCCCTGGCTTGCAAGGTA	0.567000														19			10		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179736188	179736188	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179736188C>T	uc002une.2	-	13	2289	c.2171G>A	c.(2170-2172)cGa>cAa	p.R724Q	CCDC141_uc002unf.1_Missense_Mutation_p.R203Q	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	149							protein binding	p.P723H(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCATTTTTGTCGTAGATCTAA	0.393000														157			74		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113933979	113933979	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:113933979G>A	uc003ynu.3	-	10	1668	c.1509_splice	c.e10-1	p.S503_splice	CSMD3_uc003ynt.3_Splice_Site_p.S463_splice|CSMD3_uc011lhx.2_Splice_Site_p.S399_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	503	Sushi 2.					integral to membrane|plasma membrane				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						GTTGATCCAAGGCTAAAGTTA	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				57			19		0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	362409	362409	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:362409C>T	uc002lol.3	-	7	974	c.931G>A	c.(931-933)Gac>Aac	p.D311N	THEG_uc002lom.3_Missense_Mutation_p.D287N	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	311					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ACGCACTTGTCCGACTGAGCT	0.592000														83			38		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179571376	179571376	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179571376C>T	uc021vsy.1	-	98	25718	c.25493G>A	c.(25492-25494)gGa>gAa	p.G8498E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G5159E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9425	Ig-like 67.						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)			AACACGACCTCCTTGGTTCAG	0.443000														131			64		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220353814	220353814	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220353814G>A	uc010fwg.3	+	34	8188	c.8188G>A	c.(8188-8190)Gac>Aac	p.D2730N		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2730	Fibronectin type-III 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGGCATCCCCGACTGTTACTA	0.632000														71			43		0	0	1	0	0
ZNF326	284695	broad.mit.edu	37	1	90493234	90493234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:90493234C>T	uc001dnq.2	+	11	1862	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S	ZNF326_uc009wda.1_Missense_Mutation_p.P486S|ZNF326_uc001dnr.2_Missense_Mutation_p.P369S	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	Homo sapiens zinc finger protein 326 (ZNF326), transcript variant 1, mRNA.	575	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TGCTGACTTCCCTGTTGAGCA	0.398000														51			26		0	0	1	0	0
C8orf86	389649	broad.mit.edu	37	8	38370085	38370085	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:38370085G>A	uc003xlx.1	-	2	517	c.492C>T	c.(490-492)ctC>ctT	p.L164L		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	Homo sapiens chromosome 8 open reading frame 86 (C8orf86), mRNA.	164										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						gaggactgcggaggcttgaga	0.537000														76			7		0	0	1	0	0
TMEM65	157378	broad.mit.edu	37	8	125332403	125332403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:125332403G>A	uc010mdl.3	-	5	1087	c.545C>T	c.(544-546)tCc>tTc	p.S182F		NM_194291	NP_919267	Q6PI78	TMM65_HUMAN	Homo sapiens transmembrane protein 65 (TMEM65), mRNA.	182						integral to membrane				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCCTAACCTGGAAGCCAATGC	0.368000														65			47		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675553	62675554	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62675553_62675554GG>AA	uc021ooc.1	+	4	1542_1543	c.1107_1108GG>AA	c.(1105-1110)gaggag>gaAAag	p.E370K	L1TD1_uc001dae.4_Missense_Mutation_p.E370K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	370	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CTAAGCCAGAGGAGATGAAAAA	0.436000														139			30		0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70787583	70787583	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:70787583C>T	uc004eaa.2	+	19	3061	c.2823C>T	c.(2821-2823)acC>acT	p.T941T	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Silent_p.T931T|OGT_uc004eac.3_Silent_p.T802T|OGT_uc004ead.3_Silent_p.T560T	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	941					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GGGCAGGGACCCCCATGGTGA	0.507000														10			13		0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683229	140683229	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140683229G>A	uc003ljf.3	-	0	384	c.204C>T	c.(202-204)ggC>ggT	p.G68G		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	68					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TAAGTGCCGGGCCGGTGCCCT	0.577000														90			29		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368424	86368424	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:86368424C>T	uc001vll.1	-	1	2679	c.2220G>A	c.(2218-2220)acG>acA	p.T740T	SLITRK6_uc021rla.1_Silent_p.T740T	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	740						integral to membrane		p.T740K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTGATTGGTTCGTGGTTTTGT	0.368000														302			85		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107791	55107791	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55107791C>T	uc002qgh.1	+	6	1278	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	LILRA1_uc010yfg.1_Missense_Mutation_p.P364S|LILRA1_uc010yfh.2_Missense_Mutation_p.P366S	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	366	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGCTGATGCCCCCCTCCGTCT	0.592000														110			51		0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55077389	55077389	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55077389G>A	uc001cxn.3	-	5	962	c.830C>T	c.(829-831)tCg>tTg	p.S277L	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	277						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CATGGGGTCCGAGGCAGCCTG	0.592000														98			29		0	0	1	0	0
PIP5K1P1	206426	broad.mit.edu	37	6	7987514	7987514	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7987514G>A	uc003mxx.4	+	0	1180	c.745G>A	c.(745-747)Ggc>Agc	p.G249S	TXNDC5_uc003mxw.3_Intron					Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 (PIP5K1P1), non-coding RNA.																		TGACCTCAAAGGCTCAACCTA	0.438000														66			10		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833793	61833794	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61833793_61833794GG>AA	uc001jky.3	-	36	7183_7184	c.6845_6846CC>TT	c.(6844-6846)tcc>tTT	p.S2282F	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.	2282					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						GATCCCGCCCGGACTGAAAGGC	0.495000														189			14		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825865	146825865	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:146825865C>T	uc003weu.2	+	6	1536	c.1020C>T	c.(1018-1020)atC>atT	p.I340I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	340	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGAAAGCATCAACTACAATG	0.403000										HNSCC(39;0.1)				143			48		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31341692	31341692	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31341692G>A	uc002ebr.3	+	26	3225	c.3127G>A	c.(3127-3129)Gaa>Aaa	p.E1043K	ITGAM_uc002ebq.3_Missense_Mutation_p.E1042K|ITGAM_uc010can.3_Missense_Mutation_p.E448K	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	1042					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.F1043L(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CATCCAGGAAGAATTCAATGC	0.582000														69			27		0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14479246	14479246	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:14479246G>A	uc010xai.2	-	2		c.318C>T								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		ACAGGAGCACGAAGCGCAGCA	0.612000														21			9		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068633	103068633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103068633G>A	uc002tbx.3	+	11	2276	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	IL18RAP_uc010fiz.3_Missense_Mutation_p.E456K	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	598					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CCAGCCTAAGGAATGGTGAAA	0.517000														77			40		0	0	1	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77310494	77310494	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:77310494G>A	uc002bcf.2	+	1	492	c.42G>A	c.(40-42)agG>agA	p.R14R	PSTPIP1_uc010bkt.1_Non-coding_Transcript|PSTPIP1_uc010umo.1_5'UTR|PSTPIP1_uc010bku.1_Silent_p.R5R|PSTPIP1_uc010bkv.1_Non-coding_Transcript|PSTPIP1_uc010bkw.1_Silent_p.R14R	NM_003978	NP_003969	O43586	PPIP1_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1), mRNA.	14	FCH.				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CACAGTGCAGGGACTTCACAG	0.607000														6			3		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012875	29012875	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29012875G>A	uc003nlw.2	-	0	78	c.78C>T	c.(76-78)atC>atT	p.I26I	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTCCTGACAGGATCATCTCCA	0.403000														110			44		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170062088	170062088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170062088C>T	uc002ues.3	-	40	7829	c.7616G>A	c.(7615-7617)gGa>gAa	p.G2539E		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2539					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCGGAAGTTTCCTCCCAATGT	0.493000														95			32		0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84070370	84070370	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84070370G>A	uc002fhg.1	-	1	325	c.325C>T	c.(325-327)Ctc>Ttc	p.L109F		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	109					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGTTGAGGAGGAAGCAGGCC	0.632000														37			10		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50959005	50959005	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50959005C>T	uc009xog.3	-	5	891	c.857G>A	c.(856-858)tGg>tAg	p.W286*	OGDHL_uc001jie.3_Nonsense_Mutation_p.W259*|OGDHL_uc010qgt.2_Nonsense_Mutation_p.W202*|OGDHL_uc010qgu.2_Nonsense_Mutation_p.W50*|OGDHL_uc009xoh.2_Nonsense_Mutation_p.W50*	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	259					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CTCTGAGGACCATTTCCGGGC	0.562000														17			5		0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573671	136573671	+	Silent	SNP	G	A	A	rs142918857	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:136573671G>A	uc003erf.4	+	1	583	c.369G>A	c.(367-369)agG>agA	p.R123R	SLC35G2_uc003erg.4_Silent_p.R123R|SLC35G2_uc010hub.3_Silent_p.R123R|SLC35G2_uc021xem.1_Silent_p.R123R	NM_001097600	NP_079522	Q8TBE7	TMM22_HUMAN	Homo sapiens transmembrane protein 22 (TMEM22), transcript variant 3, mRNA.	123	DUF6 1.					Golgi apparatus|integral to membrane											TTATCACTAGGCTTGTTTCTG	0.393000														184			63		0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	55990881	55990881	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55990881C>T	uc003tra.2	+	4	921	c.114C>T	c.(112-114)gcC>gcT	p.A38A	ZNF713_uc003trc.1_Silent_p.A25A	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGGATGTGGCCGTGGACTTCA	0.517000														58			34		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781494	128781494	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:128781494G>A	uc001qet.3	+	1	640	c.326G>A	c.(325-327)tGg>tAg	p.W109*	KCNJ5_uc009zck.3_Nonsense_Mutation_p.W109*|KCNJ5_uc001qew.3_Nonsense_Mutation_p.W109*	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	109					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TTCATTTGGTGGCTCATTGCT	0.527000														71			32		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116931269	116931269	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116931269C>T	uc011lxl.2	+	2	1434	c.1434C>T	c.(1432-1434)acC>acT	p.T478T	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Silent_p.T328T	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	478	Pro-rich.				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						GCACCAGCACCCACAAACCTC	0.562000														206			48		0	0	1	0	0
GALNT7	51809	broad.mit.edu	37	4	174169415	174169415	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:174169415C>T	uc003isz.4	+	1	494	c.411C>T	c.(409-411)ccC>ccT	p.P137P		NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.	137					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		ACTTTGAACCCAAAGAACCTG	0.483000														95			34		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130789654	130789654	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:130789654G>A	uc003ysr.3	-	1	1062	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	60						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CATTGAGGGAGAATTCAACTG	0.423000														52			22		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196918671	196918671	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:196918671G>A	uc001gtq.1	+	1	222	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	49	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TCCTACAGGGGAAGTTTTCTA	0.363000														58			27		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228153893	228153893	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228153893G>A	uc002vom.2	+	34	3071	c.2909G>A	c.(2908-2910)gGa>gAa	p.G970E	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	970	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGTGAGAAAGGAAACAGAGGC	0.483000														35			11		0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154461646	154461646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154461646C>T	uc001ffb.3	-	2	929	c.905G>A	c.(904-906)aGg>aAg	p.R302K	SHE_uc001ffc.3_Non-coding_Transcript	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	302										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCCCTCTGCCCTGGGCCCCCC	0.647000														55			23		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119966478	119966478	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:119966478C>T	uc001txe.3	+	11	1753	c.1288C>T	c.(1288-1290)Caa>Taa	p.Q430*	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	430										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CTCAAATTTTCAAAAGGACAT	0.398000														112			52		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397710	111397710	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:111397710G>A	uc003iab.4	+	0	482	c.140G>A	c.(139-141)gGg>gAg	p.G47E		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	47					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GACTCCAGCGGGGACGGCGGG	0.632000														131			46		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67066476	67066476	+	Silent	SNP	G	A	A	rs147341587		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:67066476G>A	uc003xvv.3	+	8	1657	c.1431G>A	c.(1429-1431)tcG>tcA	p.S477S	TRIM55_uc003xvu.3_Silent_p.S477S|TRIM55_uc003xvw.3_Intron|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	477						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CTGAGGATTCGAATGTACGGA	0.567000														42			29		0	0	1	0	0
CYTH1	9267	broad.mit.edu	37	17	76705812	76705812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76705812G>A	uc021ueg.1	-	1	96	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	CYTH1_uc002jvw.3_Missense_Mutation_p.P9S|CYTH1_uc010wtw.1_5'UTR|CYTH1_uc010wtx.1_5'UTR	NM_004762	NP_004753	Q15438	CYH1_HUMAN	Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA.	9					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AGGTCACTGGGAACTACAAAA	0.468000														71			23		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1248754	1248754	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1248754C>T	uc002cks.3	+	5	1031	c.783C>T	c.(781-783)ttC>ttT	p.F261F	CACNA1H_uc002ckt.3_Silent_p.F261F	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	261					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)	ACCGCTGCTTCCTGGACAGTG	0.632000														22			5		0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15561637	15561637	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:15561637C>T	uc002yjm.3	-	1	223	c.213G>A	c.(211-213)agG>agA	p.R71R	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Silent_p.R50R|LIPI_uc021whh.1_Silent_p.R50R|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Silent_p.R50R|LIPI_uc021whe.1_Silent_p.R50R|LIPI_uc021whf.1_Silent_p.R50R	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	50					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTAGGTTGTTCCTTGTATACA	0.353000														101			28		0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	102378965	102378965	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:102378965C>T	uc001vpf.2	-	3	715	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	FGF14_uc001vpe.2_Missense_Mutation_p.E202K	NM_175929	NP_787125	Q92915	FGF14_HUMAN	Homo sapiens fibroblast growth factor 14 (FGF14), transcript variant 2, mRNA.	202					JNK cascade|cell death|cell-cell signaling|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TACTCACCTTCCAATGGCTTG	0.358000														121			12		0	0	1	0	0
KATNAL1	84056	broad.mit.edu	37	13	30854256	30854256	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:30854256T>A	uc001uss.3	-	2	368	c.267A>T	c.(265-267)caA>caT	p.Q89H	KATNAL1_uc001ust.3_Missense_Mutation_p.Q89H	NM_001014380	NP_115492	Q9BW62	KATL1_HUMAN	Homo sapiens katanin p60 subunit A-like 1 (KATNAL1), transcript variant 2, mRNA.	89						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		ATGGTTCATCTTGACAGGACA	0.393000														33			15		0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73179425	73179425	+	Missense_Mutation	SNP	G	A	A	rs150168072		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:73179425G>A	uc003hgk.2	-	11	1751	c.1714C>T	c.(1714-1716)Cgt>Tgt	p.R572C	ADAMTS3_uc003hgl.3_5'Flank	NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	572	TSP type-1 1.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTCTGAAACGAACACCAGTT	0.393000														43			13		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23892849	23892849	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23892849G>A	uc001wjx.3	-	23	3112	c.3006C>T	c.(3004-3006)gcC>gcT	p.A1002A		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1002					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A1002T(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTGTTGGTGGGCCTCTTGCA	0.537000														169			64		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681286	100681286	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100681286G>A	uc003uxp.1	+	2	6642	c.6589G>A	c.(6589-6591)Gaa>Aaa	p.E2197K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2197	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T2196T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAATTCTACTGAAGCCCGTTC	0.498000														508			205		0	0	1	0	0
RNASE10	338879	broad.mit.edu	37	14	20979118	20979118	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20979118G>A	uc001vxp.2	+	1	976	c.572G>A	c.(571-573)gGg>gAg	p.G191E	RNASE10_uc010tlj.2_Missense_Mutation_p.G163E	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Homo sapiens ribonuclease, RNase A family, 10 (non-active) (RNASE10), mRNA.	163						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		GAGCTCAAGGGGGGAAAATGT	0.473000														48			20		0	0	1	0	0
ALG9	79796	broad.mit.edu	37	11	111708198	111708198	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:111708198G>A	uc010rwn.2	-	10	1405	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	ALG9_uc001ply.3_Missense_Mutation_p.P311S|ALG9_uc001plz.3_Missense_Mutation_p.P318S|ALG9_uc021qql.1_Missense_Mutation_p.P311S|ALG9_uc021qqm.1_Missense_Mutation_p.P318S|ALG9_uc010rwo.2_Missense_Mutation_p.P310S|ALG9_uc009yyh.1_Missense_Mutation_p.P377S	NM_001077692	NP_001071160	Q9H6U8	ALG9_HUMAN	Homo sapiens asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) (ALG9), transcript variant 4, mRNA.	482					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	p.R436L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		TACTTGTCAGGAAGAAGGAAG	0.408000														52			24		0	0	1	0	0
ZNF619	285267	broad.mit.edu	37	3	40529675	40529675	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:40529675C>T	uc011azb.2	+	5	2101	c.1794C>T	c.(1792-1794)ctC>ctT	p.L598L	ZNF619_uc011aza.2_Silent_p.L500L|ZNF619_uc011azc.2_Silent_p.L558L|ZNF619_uc011azd.2_Silent_p.L514L|ZNF619_uc003ckj.3_Silent_p.L542L|ZNF619_uc021wwh.1_Silent_p.L549L	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA.	598					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TTCAGGATCTCGCTTTTCCTG	0.498000														78			98		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55145665	55145665	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55145665C>T	uc010ooe.1	+	12	2652	c.2328C>T	c.(2326-2328)tcC>tcT	p.S776S	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Silent_p.S344S|HEATR8_uc010ood.1_Silent_p.S294S|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Intron|HEATR8_uc001cxr.1_Intron|HEATR8_uc010oog.1_Silent_p.S776S|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_5'Flank	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	776						integral to membrane	binding	p.S776F(1)		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						TGGCTAGCTCCTTCATGACCG	0.607000														209			41		0	0	1	0	0
WNT8B	7479	broad.mit.edu	37	10	102240871	102240871	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:102240871G>A	uc001krb.3	+	3	472	c.358G>A	c.(358-360)Ggg>Agg	p.G120R		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8B (WNT8B), mRNA.	120					Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CTCCCGCAACGGGCAACTGGG	0.488000														53			30		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130290201	130290201	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130290201G>A	uc010htl.3	+	5	2972	c.2941G>A	c.(2941-2943)Gat>Aat	p.D981N		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	981	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AATATTTTCAGATGTGACAGC	0.433000														28			13		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167625888	167625888	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:167625888C>T	uc010jjd.3	+	15	2904	c.2904C>T	c.(2902-2904)tcC>tcT	p.S968S	ODZ2_uc003lzr.4_Silent_p.S745S|ODZ2_uc003lzt.4_Silent_p.S341S|ODZ2_uc010jje.3_Silent_p.S239S	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)		GAGGTGCTTCCTTGACTCTAC	0.547000														98			23		0	0	1	0	0
SIX2	10736	broad.mit.edu	37	2	45233467	45233467	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:45233467G>A	uc002ruo.3	-	1	1011	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L		NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	Homo sapiens SIX homeobox 2 (SIX2), mRNA.	240						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGGGACGGCAGCCCAGGGGGC	0.701000														79			27		0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4536769	4536769	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:4536769G>A	uc002fyh.3	-	8	1213	c.1188C>T	c.(1186-1188)acC>acT	p.T396T	ALOX15_uc010vsd.2_Silent_p.T357T|ALOX15_uc010vse.2_Silent_p.T418T	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	396	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	TAATTTCCAGGGTGTATCGCA	0.517000														27			32		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60754776	60754776	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:60754776C>T	uc002jad.3	+	11	2383	c.1981C>T	c.(1981-1983)Ccc>Tcc	p.P661S	MRC2_uc010ddq.1_Non-coding_Transcript	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	661					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGGGCCAGATCCCACGCCCAG	0.672000														18			7		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57732829	57732829	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:57732829G>A	uc002emi.3	+	2	360	c.271G>A	c.(271-273)Gag>Aag	p.E91K	CCDC135_uc002emj.3_Missense_Mutation_p.E91K|CCDC135_uc002emk.3_Missense_Mutation_p.E91K	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	91						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CACACCCAAGGAGGAACACCT	0.572000														166			51		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60695126	60695126	+	Missense_Mutation	SNP	G	A	A	rs144704995	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60695126G>A	uc001nqi.3	+	2	522	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	TMEM132A_uc001nqj.3_Missense_Mutation_p.R110Q|TMEM132A_uc001nqk.3_Missense_Mutation_p.R123Q|TMEM132A_uc001nql.1_Missense_Mutation_p.R123Q	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	110						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GTCCCCCCTCGAGTCACTGAG	0.602000														168			78		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	69281668	69281668	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:69281668G>A	uc009xpn.1	-	4	634	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	CTNNA3_uc001jmw.2_Nonsense_Mutation_p.Q171*|CTNNA3_uc001jmx.4_Nonsense_Mutation_p.Q171*|CTNNA3_uc009xpo.1_Nonsense_Mutation_p.Q31*|CTNNA3_uc001jna.2_Nonsense_Mutation_p.Q183*	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	171					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TAGGTTTTCTGGAGGTCAGAT	0.408000														88			36		0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641484	36641484	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36641484G>A	uc002xhl.3	-	2	944	c.735C>T	c.(733-735)ttC>ttT	p.F245F	TTI1_uc002xhm.3_Silent_p.F245F	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	245							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CAGCCATAATGAAGCTCACTG	0.433000														168			72		0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77984380	77984380	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:77984380G>A	uc001dhn.3	+	10	1616	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	AK5_uc001dho.3_Missense_Mutation_p.D401N	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	427					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ATTGATCAGAGACATTATGGA	0.468000														48			13		0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185310027	185310027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:185310027G>A	uc003iwf.4	-	8	1135	c.935C>T	c.(934-936)cCc>cTc	p.P312L		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	312					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GGAAGAAAGGGGGAGGTCTTG	0.587000														72			36		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80655837	80655837	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:80655837C>T	uc001szd.3	+	17	1957	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGTTCATGTCCCAGTGGTGGA	0.403000														62			47		0	0	1	0	0
C19orf75	284369	broad.mit.edu	37	19	51768752	51768752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51768752G>A	uc002pwb.1	+	2	534	c.153G>A	c.(151-153)atG>atA	p.M51I	C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	51						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						TGGATGGCATGGATGGCAGCC	0.572000														56			32		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153026646	153026646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:153026646C>T	uc011dcy.2	+	2	436	c.409C>T	c.(409-411)Cct>Tct	p.P137S	GRIA1_uc003lva.4_Missense_Mutation_p.P127S|GRIA1_uc003luy.4_Missense_Mutation_p.P127S|GRIA1_uc003luz.4_Missense_Mutation_p.P32S|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Missense_Mutation_p.P58S|GRIA1_uc011dcz.2_Missense_Mutation_p.P137S|GRIA1_uc010jia.1_Missense_Mutation_p.P107S	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	127					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCAGCTGCGCCCTGAACTGCA	0.512000														139			20		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168180991	168180991	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:168180991G>A	uc010jjg.3	-	16	2127	c.1707C>T	c.(1705-1707)atC>atT	p.I569I	SLIT3_uc003mab.3_Silent_p.I569I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	569					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACCTCCTTGATCTTATTGT	0.547000														11			8		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55110701	55110701	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55110701G>A	uc002qgh.1	+	8	1444	c.1262_splice	c.e8-1	p.G421_splice	LILRA1_uc010yfh.2_Splice_Site_p.G421_splice	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	421					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGATTCTCAGGAGCAGCTGAG	0.448000														47			15		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15063777	15063777	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15063777C>T	uc002naa.1	-	7	1469	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	SLC1A6_uc010dzu.1_Missense_Mutation_p.E410K|SLC1A6_uc010xod.1_Missense_Mutation_p.E424K	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	488					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GTGATGTCTTCCGTGGGCAAG	0.602000														116			52		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73485203	73485203	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73485203G>A	uc001jrx.4	+	28	3889	c.3499G>A	c.(3499-3501)Gag>Aag	p.E1167K	CDH23_uc001jrz.3_Missense_Mutation_p.E1167K|C10orf105_uc001jsb.2_Intron|CDH23_uc001jsc.1_Intron	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1169	Cadherin 11.				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						CCTGGACCGGGAGCGGAACTC	0.657000														32			10		0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63445416	63445416	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:63445416G>A	uc011mou.2	-	9	1330	c.1240C>T	c.(1240-1242)Ctc>Ttc	p.L414F	MTMR8_uc004dvq.2_Missense_Mutation_p.L30F|MTMR8_uc004dvr.2_Missense_Mutation_p.L39F	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	0	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GCTTGATTGAGAGCCTGCTTC	0.517000														15			4		0	0	1	0	0
CLDN14	23562	broad.mit.edu	37	21	37833570	37833570	+	Missense_Mutation	SNP	C	T	T	rs146755542	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:37833570C>T	uc021wja.1	-	0	424	c.424G>A	c.(424-426)Gac>Aac	p.D142N	CLDN14_uc002yvn.1_Missense_Mutation_p.D142N|CLDN14_uc002yvo.1_Missense_Mutation_p.D142N|CLDN14_uc002yvk.1_Missense_Mutation_p.D142N|CLDN14_uc002yvl.1_Missense_Mutation_p.D142N|CLDN14_uc002yvm.1_Missense_Mutation_p.D142N	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	142					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TGCACCACGTCGTTGGTGGTC	0.627000														83			27		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111409813	111409813	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:111409813G>A	uc003iab.4	+	1	1103	c.761G>A	c.(760-762)gGa>gAa	p.G254E		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	254					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AAAGAATACGGAGCACTTTCA	0.383000														36			62		0	0	1	0	0
CMPK2	129607	broad.mit.edu	37	2	6991667	6991667	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:6991667C>T	uc002qyo.3	-	3	1249	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E	CMPK2_uc002qyn.1_Non-coding_Transcript|CMPK2_uc010yis.1_Intron|CMPK2_uc010ewv.3_Silent_p.E380E	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN	Homo sapiens cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial (CMPK2), nuclear gene encoding mitochondrial protein, mRNA.	380					dTDP biosynthetic process	mitochondrion	ATP binding|UMP kinase activity|cytidylate kinase activity|thymidylate kinase activity			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCAACCTCTCCTCAGGACTCA	0.587000														78			23		0	0	1	0	0
CLPP	8192	broad.mit.edu	37	19	6364601	6364601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6364601C>T	uc002mem.1	+	3	629	c.506C>T	c.(505-507)tCg>tTg	p.S169L		NM_006012	NP_006003	Q16740	CLPP_HUMAN	Homo sapiens ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli) (CLPP), nuclear gene encoding mitochondrial protein, mRNA.	169					proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|ovary(2)	6						ATGCGCCACTCGCTCCCCAAC	0.657000														36			23		0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413062	124413062	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124413062C>T	uc010sam.2	-	0	489	c.489G>A	c.(487-489)atG>atA	p.M163I		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	163					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)		AGGTCAGGTTCATTATGCTTC	0.502000														81			33		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53040680	53040680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53040680G>A	uc001sat.3	-	6	1346	c.1313C>T	c.(1312-1314)gCc>gTc	p.A438V		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	438	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTTGTTCCTGGCATCCTTGAG	0.567000														96			45		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141902	133141902	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133141902C>T	uc003ytj.3	-	14	2451	c.2226G>A	c.(2224-2226)gtG>gtA	p.V742V	KCNQ3_uc003yti.3_Silent_p.V622V|KCNQ3_uc010mdt.3_Silent_p.V730V	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	742					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGGGCCTCTCCACATACGTTG	0.592000														27			17		0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90784905	90784905	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90784905C>T	uc002bpc.3	+	3	944	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GDPGP1_uc021suh.1_Silent_p.F255F	NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	Homo sapiens chromosome 15 open reading frame 58 (C15orf58), mRNA.	255					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										CTCCTGGCTTCCTCTTTTACA	0.577000														72			12		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14756399	14756399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14756399G>A	uc003zlm.3	-	29	6196	c.5380C>T	c.(5380-5382)Cca>Tca	p.P1794S	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.P330S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1794	Calx-beta.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGTTTAGATGGAATCACGGTG	0.333000														10			5		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15580660	15580660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15580660G>A	uc002nbg.3	-	3	1557	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	PGLYRP2_uc002nbf.4_Missense_Mutation_p.S475F	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	475					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GAAGCCCCGGGAGTTGTGGCC	0.706000														11			4		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109688977	109688977	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:109688977G>A	uc004bcz.3	+	2	3073	c.2784G>A	c.(2782-2784)cgG>cgA	p.R928R	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.R776R|ZNF462_uc004bda.3_Silent_p.R776R	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	928					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACCGGTGTCGGTTTTGTTCAT	0.473000														140			12		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887578	25887578	+	Missense_Mutation	SNP	C	T	T	rs151132862		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:25887578C>T	uc001isj.3	+	10	3083	c.3023C>T	c.(3022-3024)cCt>cTt	p.P1008L	GPR158_uc001isk.3_Missense_Mutation_p.P383L	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1008						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAGGTGTGTCCTTGGGAGGTT	0.478000														56			33		0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100330	8100330	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:8100330G>A	uc001ijz.3	+	2	861	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	GATA3_uc001ika.3_Missense_Mutation_p.A102T	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	102				A -> V (in Ref. 2; CAA38877).	T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CGGCGGCAAAGCCCTGGGCAG	0.687000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""							119			29		0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41796986	41796986	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:41796986G>A	uc001zoa.3	-	16	2283	c.2105C>T	c.(2104-2106)tCc>tTc	p.S702F	LTK_uc001zob.3_Missense_Mutation_p.S641F|LTK_uc010ucx.1_Missense_Mutation_p.S572F|LTK_uc010bcg.2_Missense_Mutation_p.S400F	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	702	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		ATCTGTCTTGGATGTGAAGAT	0.607000										TSP Lung(18;0.14)				56			20		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153190713	153190713	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:153190713C>T	uc011dcy.2	+	15	2706	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F	GRIA1_uc003lva.4_Silent_p.F883F|GRIA1_uc003luy.4_Silent_p.F883F|GRIA1_uc003luz.4_Silent_p.F788F|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.F803F|GRIA1_uc011dcx.2_Silent_p.F814F|GRIA1_uc011dcz.2_Silent_p.F893F	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	883					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.M893I(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCCATGACTTCCCCAAGTCCA	0.607000														32			39		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454619	84454619	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:84454619G>A	uc001vlk.3	-	0	1910	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	342	LRRNT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGCCCCCAGGGCAGGGTAAA	0.537000														103			8		0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187627274	187627274	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:187627274C>T	uc002ups.3	+	7	2317	c.2205C>T	c.(2203-2205)atC>atT	p.I735I	FAM171B_uc002upr.1_Silent_p.I702I|FAM171B_uc002upt.3_Silent_p.I204I	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	735						integral to membrane	DNA binding	p.I735F(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGCCCAAGATCCTTTACTTAG	0.488000														97			33		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110901982	110901982	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:110901982G>A	uc003hzy.4	+	15	2674	c.2222_splice	c.e15-1	p.G741_splice	EGF_uc011cfu.2_Splice_Site_p.G699_splice|EGF_uc011cfv.2_Splice_Site_p.G741_splice|EGF_uc010imk.3_5'UTR	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	741	EGF-like 5.				DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TCTCTACTAGGAGCAGATCCC	0.408000														88			29		0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6953543	6953543	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6953543C>T	uc001mey.3	+	2	628	c.40C>T	c.(40-42)Cga>Tga	p.R14*	ZNF215_uc010raw.2_Nonsense_Mutation_p.R14*|ZNF215_uc010rax.2_5'UTR|ZNF215_uc001mez.1_Nonsense_Mutation_p.R14*	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	14					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CTCAAAACCTCGAAACCTGTC	0.468000														73			33		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034580	52034580	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52034580C>T	uc002pwy.3	-	1	469	c.261G>A	c.(259-261)gaG>gaA	p.E87E	SIGLEC6_uc002pwz.3_Silent_p.E87E|SIGLEC6_uc010ydb.2_Silent_p.E51E|SIGLEC6_uc010ydc.2_Silent_p.E87E|SIGLEC6_uc002pxa.3_Silent_p.E87E|SIGLEC6_uc010eoz.2_Silent_p.E87E|SIGLEC6_uc010epa.2_Silent_p.E76E|SIGLEC6_uc010epb.2_Silent_p.E40E	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	87	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CCCGGGTCTCCTCCTGCACTT	0.572000														100			36		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29527590	29527590	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:29527590C>T	uc002hgg.3	+	8	1422	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*	NF1_uc002hge.2_Nonsense_Mutation_p.Q347*|NF1_uc002hgf.2_Nonsense_Mutation_p.Q347*|NF1_uc002hgh.3_Nonsense_Mutation_p.Q347*|NF1_uc010csn.2_Nonsense_Mutation_p.Q207*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	347					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCTACTTGTTCAGTCCATGGT	0.348000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				62			42		0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447742	10447742	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:10447742G>A	uc003gmn.3	-	2	698	c.211C>T	c.(211-213)Ctt>Ttt	p.L71F	ZNF518B_uc021xme.1_Missense_Mutation_p.L71F	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAATCTTGAAGAGAGATCTTG	0.463000														151			53		0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107097124	107097124	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:107097124G>A	uc003dwi.1	+	0	937	c.690G>A	c.(688-690)agG>agA	p.R230R		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	230										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATGCATCAAGGAGCTTTGAAA	0.368000														122			54		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180036981	180036981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:180036981G>A	uc003mlz.4	-	27	3810	c.3731C>T	c.(3730-3732)gCt>gTt	p.A1244V	FLT4_uc003mma.4_Missense_Mutation_p.A1244V	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1244					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.A1244V(3)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACGGGTCTCAGCCCCTCTGGC	0.572000														130			47		0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43319621	43319621	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:43319621G>A	uc010dnk.3	+	8	1330	c.1108G>A	c.(1108-1110)Ggc>Agc	p.G370S	SLC14A1_uc002lbi.4_Missense_Mutation_p.G182S|SLC14A1_uc010xcn.2_Missense_Mutation_p.G314S|SLC14A1_uc002lbf.4_Missense_Mutation_p.G314S|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Missense_Mutation_p.G209S|SLC14A1_uc002lbh.4_Missense_Mutation_p.G206S|SLC14A1_uc002lbj.4_Missense_Mutation_p.G370S|SLC14A1_uc002lbk.4_Missense_Mutation_p.G314S|SLC14A1_uc021ujg.1_Silent_p.L264L	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	314						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCTGGCTCTTGGCTGTGGTGA	0.537000														64			23		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157648592	157648592	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157648592C>T	uc001fqz.4	-	14	2405	c.2113G>A	c.(2113-2115)Ggg>Agg	p.G705R	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.G431R|FCRL3_uc001frb.3_Missense_Mutation_p.G705R|FCRL3_uc001frc.1_Missense_Mutation_p.G705R	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	705						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTAGCCTCCCCTGCAGAGTCG	0.468000														46			18		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202704705	202704705	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:202704705G>A	uc009xag.3	-	22	3499	c.3383C>T	c.(3382-3384)cCt>cTt	p.P1128L	KDM5B_uc001gyf.3_Missense_Mutation_p.P1092L|KDM5B_uc001gyg.1_Missense_Mutation_p.P934L	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1092					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATCACATCGAGGACACAGCAC	0.388000														49			29		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135980	156135980	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:156135980G>A	uc003ioq.3	+	1	1378	c.889G>A	c.(889-891)Gtc>Atc	p.V297I	NPY2R_uc003ior.3_Missense_Mutation_p.V297I|NPY2R_uc021xtm.1_Missense_Mutation_p.V297I	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	297					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGACAGCCAGGTCCTGGACCT	0.522000														55			13		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56297165	56297165	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56297165C>T	uc010ygf.2	-	11	3639	c.2928G>A	c.(2926-2928)ttG>ttA	p.L976L	NLRP11_uc002qlz.3_Silent_p.L823L|NLRP11_uc002qmb.3_Silent_p.L877L|NLRP11_uc002qmc.3_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	976							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACAGAAAGATCAAACTGGGTT	0.423000														82			32		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046410	9046410	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9046410C>T	uc002mkp.3	-	4	35425	c.35221G>A	c.(35221-35223)Gag>Aag	p.E11741K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11743	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						GTCACCATCTCTGGTGCACCA	0.488000														95			35		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424299	56424299	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56424299G>A	uc010ygg.2	-	4	909	c.884C>T	c.(883-885)cCc>cTc	p.P295L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	295	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTCTTCAATGGGGGCATCAAA	0.398000														66			26		0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801459	9801459	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9801459C>T	uc021uop.1	-	5	1366	c.720G>A	c.(718-720)gtG>gtA	p.V240V	ZNF812_uc010xkx.2_Silent_p.V136V	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TATGAATTTTCACATGTGCAG	0.333000														57			27		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81532943	81532943	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81532943G>A	uc001szl.1	+	3	770	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	ACSS3_uc001szm.1_Missense_Mutation_p.E226K	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	227						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ATTTGGCATTGAACCTGGAAG	0.338000														64			22		0	0	1	0	0
C5orf28	64417	broad.mit.edu	37	5	43446355	43446355	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:43446355G>A	uc003jny.3	-	2	760	c.617C>T	c.(616-618)tCt>tTt	p.S206F	C5orf28_uc003jnv.4_Missense_Mutation_p.S206F|C5orf28_uc003jnx.3_Missense_Mutation_p.S206F	NM_022483	NP_071928	Q0VDI3	CE028_HUMAN	Homo sapiens chromosome 5 open reading frame 28 (C5orf28), mRNA.	206						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					ATGTTTTGAAGACATCATTTG	0.368000														68			12		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81769583	81769583	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81769583G>A	uc001szo.2	-	9	1284	c.1123C>T	c.(1123-1125)Ctg>Ttg	p.L375L	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Silent_p.L301L|PPFIA2_uc021rbh.1_Silent_p.L276L|PPFIA2_uc021rbi.1_Silent_p.L375L|PPFIA2_uc021rbj.1_Silent_p.L375L|PPFIA2_uc021rbk.1_Silent_p.L357L|PPFIA2_uc021rbl.1_Silent_p.L375L|PPFIA2_uc010sue.2_Silent_p.L275L	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	301										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACCTGCCGCAGGATAGCTTCT	0.398000														27			11		0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193361862	193361862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:193361862C>T	uc003ftg.3	+	15	1810	c.1576C>T	c.(1576-1578)Ctg>Ttg	p.L526L	OPA1_uc003fth.3_Silent_p.L490L|OPA1_uc003fti.3_Silent_p.L508L|OPA1_uc003ftj.3_Silent_p.L489L|OPA1_uc003ftk.3_Silent_p.L472L|OPA1_uc003ftl.3_Silent_p.L453L|OPA1_uc003ftm.3_Silent_p.L471L|OPA1_uc003ftn.3_Silent_p.L435L	NM_130837	NP_570850	O60313	OPA1_HUMAN	Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA.	471					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CAAAGTAGACCTGGCAGAGAA	0.433000														44			32		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841843	94841843	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:94841843G>A	uc002btj.3	+	0	414	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	MCTP2_uc010urg.1_Missense_Mutation_p.E117K|MCTP2_uc002bti.2_Missense_Mutation_p.E117K|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.E117K|MCTP2_uc002btg.4_Missense_Mutation_p.E117K|MCTP2_uc002bth.4_Missense_Mutation_p.E117K	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	117					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CCATGTGGTGGAAACAGACTC	0.532000														203			36		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588821	179588821	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179588821C>T	uc021vsy.1	-	69	17658	c.17433G>A	c.(17431-17433)ggG>ggA	p.G5811G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G2472G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6738	Ig-like 39.						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)			CACCTAACACCCCACCAGTAT	0.433000														30			7		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15729966	15729966	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15729966T>A	uc001ioc.1	-	2	415	c.415A>T	c.(415-417)Aca>Tca	p.T139S	ITGA8_uc010qcb.1_Missense_Mutation_p.T139S	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	139					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCTTTCACTGTTGCTCCAAAC	0.423000														126			20		0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3823288	3823288	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3823288C>T	uc002lyw.2	-	7	1339	c.1327G>A	c.(1327-1329)Ggc>Agc	p.G443S	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	443						intracellular	nucleic acid binding|zinc ion binding	p.A442P(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCAGAGCAGCCCGCGGGAGCT	0.627000														128			45		0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032589	55032589	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55032589G>A	uc010rid.2	+	1	344	c.258G>A	c.(256-258)ttG>ttA	p.L86L		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	70						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ACATTCGATTGAAGAAGATGG	0.438000														26			29		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47882633	47882633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:47882633G>A	uc003tny.2	-	33	5406	c.5372C>T	c.(5371-5373)tCc>tTc	p.S1791F		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1791					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCCCGGCAGGGAAGCTTCTTG	0.473000														43			7		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414247	22414247	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22414247C>T	uc001yuf.3	+	0	786	c.546C>T	c.(544-546)ttC>ttT	p.F182F	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		CGTGCCCCTTCAGGGCTTTCC	0.453000														104			40		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54791248	54791248	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54791248G>A	uc001sga.3	-	28	3035	c.2967C>T	c.(2965-2967)acC>acT	p.T989T		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	989					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CTTCTGCCTTGGTCCATTGCA	0.522000														41			12		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32724803	32724803	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:32724803C>T	uc010ezu.3	+	45	8792	c.8658C>T	c.(8656-8658)tcC>tcT	p.S2886S		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2886					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAGATAGCTCCGTGGGTGCTC	0.438000														199			68		0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11891923	11891923	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11891923C>T	uc010dyj.3	+	3	1478	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	ZNF441_uc002msn.4_Silent_p.F384F	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAAAAGCCTTCATTTGTTGCA	0.368000														49			22		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54902260	54902260	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54902260C>T	uc001sgc.4	+	4	530	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.R101W	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	151					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity	p.D150Y(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GATTGAAGATCGGCGGATACT	0.423000														155			99		0	0	1	0	0
CHGA	1113	broad.mit.edu	37	14	93390581	93390581	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:93390581G>A	uc001ybc.4	+	1	344	c.84G>A	c.(82-84)ggG>ggA	p.G28G	CHGA_uc001ybd.4_Silent_p.G28G	NM_001275	NP_001266	P10645	CMGA_HUMAN	Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA.	28					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		TGAATAAAGGGGATACCGAGG	0.562000														19			9		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135206752	135206752	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135206752G>T	uc004cbk.3	-	7	1105	c.922C>A	c.(922-924)Ctt>Att	p.L308I	SETX_uc004cbj.3_5'Flank|SETX_uc010mzt.3_5'Flank	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	308					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GGATCCATAAGTTGACCCCAG	0.433000														62			16		4.14922e-12	4.16609e-12	1	1	0
ATP6V0A4	50617	broad.mit.edu	37	7	138418941	138418941	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:138418941G>A	uc003vuf.3	-	14	1869	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L	ATP6V0A4_uc003vug.3_Missense_Mutation_p.S544L|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.S544L	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	544					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAGGATCACCGACATCTTCAT	0.428000														68			31		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103907979	103907979	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:103907979C>T	uc001phr.2	+	0	672	c.429C>T	c.(427-429)ccC>ccT	p.P143P	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	143					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGGGCAGCCCCGCCCTGATCC	0.672000														42			19		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933284	44933284	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44933284C>T	uc002oze.1	-	5	2106	c.1672G>A	c.(1672-1674)Gac>Aac	p.D558N	ZNF229_uc010ejk.1_Missense_Mutation_p.D212N|ZNF229_uc010ejl.1_Missense_Mutation_p.D552N	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ATGTGGAGGTCGGAGCTCCGG	0.542000														80			33		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739539	55739539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55739539C>T	uc003pcq.3	-	0	837	c.125G>A	c.(124-126)aGa>aAa	p.R42K	BMP5_uc011dxf.2_Missense_Mutation_p.R42K	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	42					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTTCCGTAGTCTTCTATAAAT	0.453000														173			62		0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205273430	205273430	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205273430C>T	uc001hce.3	-	6	1162	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	345					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGGCCCCATTCTCCAGGAGGG	0.667000														27			20		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70922888	70922888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:70922888C>T	uc021vjc.1	-	5	785	c.520G>A	c.(520-522)Gga>Aga	p.G174R	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.G174R|ADD2_uc002sgz.3_Missense_Mutation_p.G174R|ADD2_uc010fdt.2_Missense_Mutation_p.G174R|ADD2_uc002shc.2_Missense_Mutation_p.G174R|ADD2_uc010fdu.2_Missense_Mutation_p.G190R	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	174					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.G174R(3)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CAAGAAACTCCCTTAGGGCTG	0.517000														31			8		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7011416	7011416	+	Silent	SNP	C	T	T	rs148253534		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:7011416C>T	uc002knm.3	-	24	3664	c.3570G>A	c.(3568-3570)acG>acA	p.T1190T	LAMA1_uc010wzj.2_Silent_p.T666T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1190	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCCCTCGGTCGTGCCCCTCA	0.597000														8			4		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13381426	13381426	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:13381426G>A	uc003bxv.1	-	24	3482	c.3399C>T	c.(3397-3399)atC>atT	p.I1133I		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1133					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGCCGTTCCCGATGGCGAGGC	0.622000														157			44		0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175304647	175304647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:175304647C>T	uc002uit.3	-	15	2682	c.2291G>A	c.(2290-2292)cGa>cAa	p.R764Q	GPR155_uc002uiu.3_Missense_Mutation_p.R764Q|GPR155_uc002uiv.3_Missense_Mutation_p.R764Q|GPR155_uc010fqs.3_Missense_Mutation_p.R736Q	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	764	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GACAATGTTTCGGATACAGAG	0.333000														88			28		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113287617	113287617	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113287617G>A	uc001pnz.3	-	2	821	c.500C>T	c.(499-501)tCc>tTc	p.S167F	DRD2_uc010rwv.2_Missense_Mutation_p.S166F|DRD2_uc001poa.4_Missense_Mutation_p.S167F|DRD2_uc001pob.4_Missense_Mutation_p.S167F|DRD2_uc009yyr.1_Missense_Mutation_p.S167F	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	167					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GAGTGGGCAGGAGATGGTGAA	0.592000														33			8		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6078444	6078444	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6078444G>A	uc001qnn.1	-	44	7912	c.7662C>T	c.(7660-7662)gtC>gtT	p.V2554V	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2554					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGCAGACAGGGACCTCCAGCT	0.617000														39			10		0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11504573	11504574	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:11504573_11504574GG>AA	uc001iks.1	-	13	2447_2448	c.2404_2405CC>TT	c.(2404-2406)ccc>TTc	p.P802F	USP6NL_uc001ikt.3_Missense_Mutation_p.P785F	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	785						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						ATATCTCACGGGACTATCTACA	0.535000														164			56		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50546780	50546780	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:50546780C>T	uc001zxz.3	-	4	865	c.523G>A	c.(523-525)Gat>Aat	p.D175N	HDC_uc001zxy.3_5'Flank|HDC_uc010uff.2_Missense_Mutation_p.D175N|HDC_uc010bet.2_Missense_Mutation_p.D96N|HDC_uc010beu.2_Missense_Mutation_p.D175N	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	175					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TCATCAGCATCGGGCTCAGAC	0.547000														50			26		0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4924939	4924939	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrY:4924939G>A	uc004fqo.3	+	0	809	c.75G>A	c.(73-75)cgG>cgA	p.R25R	PCDH11Y_uc010nwg.1_Silent_p.R14R|PCDH11Y_uc004fql.1_Silent_p.R14R|PCDH11Y_uc004fqm.1_Silent_p.R14R|PCDH11Y_uc004fqn.1_Silent_p.R25R	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	25					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTGTTGTGCGGGTTAATACAA	0.428000														35			28		0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44624560	44624560	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:44624560G>A	uc021xnx.1	-	5	731	c.714C>T	c.(712-714)atC>atT	p.I238I		NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA.	238						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ACCAGCCAATGATGACCAGGG	0.453000														37			13		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885322	24885322	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24885322G>A	uc001wpf.4	+	8	4685	c.4367G>A	c.(4366-4368)tGg>tAg	p.W1456*		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1456					DNA integration	integral to membrane	DNA binding	p.W1455S(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGGCAGTGGTGGAGTTTGCCA	0.602000														40			25		0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25610314	25610314	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:25610314C>T	uc011djw.2	+	35	4252	c.3884C>T	c.(3883-3885)gCc>gTc	p.A1295V	LRRC16A_uc010jpy.3_Missense_Mutation_p.A1289V	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	1295					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CCGAAAGTTGCCCTTCTTCCA	0.478000														151			55		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47532724	47532724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:47532724G>A	uc002zia.1	+	3	803	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	COL6A2_uc002zhz.1_Missense_Mutation_p.E241K|COL6A2_uc002zhy.1_Missense_Mutation_p.E241K	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	241	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCAGAAACACGAAGCCTACGG	0.642000														71			13		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938364	2938364	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:2938364C>T	uc001ajz.3	+	0	319	c.114C>T	c.(112-114)atC>atT	p.I38I		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	38						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TCAGCTCCATCGTGGGGCACC	0.597000														38			15		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086479	100086479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100086479G>A	uc003uvd.1	+	3	1294	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	NYAP1_uc003uve.1_Missense_Mutation_p.E161K	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	379	Pro-rich.																GCCTGCACGGGAGCGGGAGAC	0.701000														50			24		0	0	1	0	0
KRT8P41	283102	broad.mit.edu	37	11	9116993	9116993	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:9116993G>A	uc010rbv.1	+	0		c.1084G>A								Homo sapiens keratin 8 pseudogene 41 (KRT8P41), non-coding RNA.																		GGCTCAGACTGAGGGCCTCAA	0.552000														11			5		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228525050	228525050	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228525050C>T	uc009xez.1	+	65	16810	c.16766C>T	c.(16765-16767)tCc>tTc	p.S5589F	OBSCN_uc001hsn.3_Missense_Mutation_p.S5589F|OBSCN_uc001hsr.1_Missense_Mutation_p.S217F	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5589					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGAGTCTTCCTCAGAGTCA	0.647000														15			4		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49381496	49381496	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:49381496G>A	uc002rww.3	-	0	171	c.61C>T	c.(61-63)Cgg>Tgg	p.R21W	FSHR_uc010fbn.3_Missense_Mutation_p.R21W|FSHR_uc002rwx.3_Missense_Mutation_p.R21W|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	21	LRRNT.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGACAGATCCGATGATGACAT	0.493000									Gonadal Dysgenesis, 46 XX					36			18		0	0	1	0	0
SCAMP3	10067	broad.mit.edu	37	1	155227093	155227093	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155227093G>T	uc001fjs.3	-	6	996	c.762C>A	c.(760-762)atC>atA	p.I254I	FAM189B_uc001fjm.3_5'Flank|FAM189B_uc001fjn.3_5'Flank|FAM189B_uc001fjo.3_5'Flank|FAM189B_uc001fjp.3_5'Flank|FAM189B_uc001fjq.1_5'Flank|SCAMP3_uc001fjt.3_Silent_p.I228I	NM_005698	NP_005689	O14828	SCAM3_HUMAN	Homo sapiens secretory carrier membrane protein 3 (SCAMP3), transcript variant 1, mRNA.	254					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCAACCTGGGATACCAATGG	0.463000														23			8		1.76689e-08	1.77207e-08	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84582010	84582010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:84582010G>A	uc002bjz.4	+	15	2091	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E623K	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	623	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGCCTCCTGGAAGCATGTGA	0.612000														50			18		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756116	10756116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10756116G>A	uc003wtk.1	-	2	1299	c.1272C>T	c.(1270-1272)atC>atT	p.I424I		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	424						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AAATGTACACGATCCCTACCA	0.493000														22			12		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84474551	84474551	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84474551G>A	uc010chj.3	+	13	1387	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E	ATP2C2_uc002fhx.3_Missense_Mutation_p.G433E|ATP2C2_uc002fhy.3_Missense_Mutation_p.G450E|ATP2C2_uc002fhz.3_Missense_Mutation_p.G282E	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	433					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTCTCAGTGGGAAAGTTAGTG	0.493000														16			7		0	0	1	0	0
PRDM12	59335	broad.mit.edu	37	9	133540058	133540058	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:133540058C>T	uc004bzt.1	+	0	78	c.18C>T	c.(16-18)ctC>ctT	p.L6L		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GCTCCGTGCTCCCGGCTGAGG	0.746000														11			8		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137928403	137928403	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:137928403C>T	uc002tva.1	+	5	1525	c.1525C>T	c.(1525-1527)Cca>Tca	p.P509S	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.P399S	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)		TTGTGAGGATCCAATGTGCTA	0.512000														48			18		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284619	152284619	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152284619C>T	uc001ezu.1	-	2	2779	c.2743G>A	c.(2743-2745)Gaa>Aaa	p.E915K	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	915	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAGCTTCATGGTGACGT	0.567000									Ichthyosis					405			160		0	0	1	0	0
RNF182	221687	broad.mit.edu	37	6	13977612	13977612	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:13977612C>T	uc021ylw.1	+	2	755	c.262C>T	c.(262-264)Ctt>Ttt	p.L88F	RNF182_uc021ylx.1_Missense_Mutation_p.L88F|RNF182_uc003nbe.3_Missense_Mutation_p.L88F|RNF182_uc003nbf.3_Missense_Mutation_p.L88F|RNF182_uc003nbg.3_Missense_Mutation_p.L88F|RNF182_uc021yly.1_Missense_Mutation_p.L88F	NM_001165034	NP_689950	Q8N6D2	RN182_HUMAN	Homo sapiens ring finger protein 182 (RNF182), transcript variant 4, mRNA.	88						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			CAACAACATCCTTGTAAACTT	0.542000														89			36		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176476	140176476	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140176476C>T	uc003lhd.2	+	0	2033	c.1927C>T	c.(1927-1929)Cct>Tct	p.P643S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.P643S|PCDHAC2_uc011czy.2_Missense_Mutation_p.P643S	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	654	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)			GGCTGACTCCCCTCGACACCG	0.637000														66			29		0	0	1	0	0
OR2L1P	26247	broad.mit.edu	37	1	248153922	248153922	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248153922C>T	uc001idv.1	+	0	354	c.110C>T	c.(109-111)gCc>gTc	p.A37V	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						ACATCAATGGCCTATGATCGT	0.458000														123			41		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94376979	94376979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:94376979C>T	uc011cdt.2	+	10	1970	c.1712C>T	c.(1711-1713)gCt>gTt	p.A571V	GRID2_uc011cdu.2_Missense_Mutation_p.A476V	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	571					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TCTCTATGGGCTTGCATTGCT	0.478000														104			48		0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155491738	155491738	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155491738A>G	uc003ioa.4	+	7	1451	c.1412A>G	c.(1411-1413)aAg>aGg	p.K471R	FGB_uc010ipv.3_Missense_Mutation_p.K412R	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	471	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ATGAATTGGAAGGGGTCATGG	0.473000														52			15		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65178594	65178594	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:65178594C>T	uc002lke.1	-	1	4506	c.3282G>A	c.(3280-3282)ttG>ttA	p.L1094L	DSEL_uc021ulg.1_Silent_p.L1094L	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	1084						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ATTCTTTCCTCAATGGTTCAT	0.368000														50			6		0	0	1	0	0
NFKBID	84807	broad.mit.edu	37	19	36387009	36387009	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36387009G>A	uc002oci.1	-	8	1053	c.479C>T	c.(478-480)gCc>gTc	p.A160V	NFKBID_uc002och.1_5'UTR	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta (NFKBID), mRNA.	160					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						GGCCAGGATGGCCGTGTGGAG	0.642000														106			10		0	0	1	0	0
SACM1L	22908	broad.mit.edu	37	3	45773594	45773594	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:45773594C>T	uc003cos.2	+	12	1255	c.1051C>T	c.(1051-1053)Cga>Tga	p.R351*	SACM1L_uc011bag.1_Nonsense_Mutation_p.R248*|SACM1L_uc011bah.1_Nonsense_Mutation_p.R285*|SACM1L_uc003cot.2_5'Flank	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	Homo sapiens SAC1 suppressor of actin mutations 1-like (yeast) (SACM1L), mRNA.	351	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GAGATGGGATCGACTAAGTAT	0.338000														133			47		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179620142	179620142	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179620142C>T	uc010pnp.2	+	11	2459	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	TDRD5_uc021pfm.1_Silent_p.F647F|TDRD5_uc001gnf.2_Silent_p.F647F|TDRD5_uc021pfn.1_Silent_p.F647F|TDRD5_uc001gnh.2_Silent_p.F202F	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	647					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATGTCTATTTCCATCATGTCT	0.383000														123			50		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435305	18435305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:18435305C>T	uc001rdt.3	+	1	406	c.290C>T	c.(289-291)tCc>tTc	p.S97F	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.S97F|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	97					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CGTGAACTCTCCTGGCATCAA	0.423000														115			30		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5047039	5047039	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:5047039G>A	uc002cye.2	+	7	1144	c.964G>A	c.(964-966)Gac>Aac	p.D322N		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	322	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCATTACCAGGACATAGGTGC	0.532000														18			5		0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124810354	124810354	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124810354G>A	uc003ehw.4	-	11	2007	c.1937C>T	c.(1936-1938)aCc>aTc	p.T646I	SLC12A8_uc003ehv.4_Missense_Mutation_p.T617I|SLC12A8_uc003eht.4_Missense_Mutation_p.T418I|SLC12A8_uc010hry.3_Intron	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	617					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GTTAACCAGGGTATACACCCA	0.488000														52			21		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124371784	124371784	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124371784G>A	uc001uft.4	+	50	8590	c.8565G>A	c.(8563-8565)gcG>gcA	p.A2855A		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2855	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAACAAAGCGATGATCTTTC	0.542000														26			15		0	0	1	0	0
ZNF133	7692	broad.mit.edu	37	20	18295752	18295752	+	Missense_Mutation	SNP	C	T	T	rs140722849		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:18295752C>T	uc010zrv.1	+	4	469	c.266C>T	c.(265-267)cCt>cTt	p.P89L	ZNF133_uc010gcq.2_Missense_Mutation_p.P86L|ZNF133_uc010zrw.1_Missense_Mutation_p.P23L|ZNF133_uc010gcr.2_Missense_Mutation_p.P86L|ZNF133_uc010zrx.1_5'UTR|ZNF133_uc002wql.4_Missense_Mutation_p.P85L|ZNF133_uc010gcs.3_Missense_Mutation_p.P85L|ZNF133_uc010zry.2_5'UTR|ZNF133_uc002wqm.2_Missense_Mutation_p.P86L	NM_003434	NP_003425	P52736	ZN133_HUMAN	Homo sapiens zinc finger protein 133 (ZNF133), transcript variant 1, mRNA.	86						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						CCTTTCTGCCCTCCGGGTTTC	0.527000														115			28		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141734499	141734499	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141734499G>A	uc003vwy.3	+	15	1871	c.1817G>A	c.(1816-1818)aGa>aAa	p.R606K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	606	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R606T(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTAATAAGAGAAGCTTCATT	0.502000														32			9		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	70986992	70986992	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:70986992C>T	uc001jpf.4	+	1	226	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	31					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ACATGCGGCTCTCCGATGACA	0.617000														112			16		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119770441	119770441	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:119770441G>A	uc004bjt.2	-	5	1469	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	ASTN2_uc022bml.1_Silent_p.S156S|ASTN2_uc022bmm.1_Silent_p.S156S	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	507						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCACCCATGGGGAGGTGGCAT	0.572000														50			28		0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5529693	5529693	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:5529693G>A	uc003soo.2	-	4	2245	c.2151C>T	c.(2149-2151)gtC>gtT	p.V717V	FBXL18_uc003son.4_Intron	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	717									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TTATTCCTGAGACAGCCAGCG	0.493000														8			5		0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48471989	48471989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:48471989C>T	uc002xuv.1	+	7	794	c.584C>T	c.(583-585)tCc>tTc	p.S195F	SLC9A8_uc010zym.1_5'UTR|SLC9A8_uc010zyj.1_Missense_Mutation_p.S211F|SLC9A8_uc010zyk.1_Silent_p.L183L|SLC9A8_uc010zyl.1_Silent_p.L155L|SLC9A8_uc010gib.1_Silent_p.L149L	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 8 (SLC9A8), mRNA.	195						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GCGTTTGGCTCCCTAATATCT	0.438000														138			47		0	0	1	0	0
ADRA2A	150	broad.mit.edu	37	10	112838180	112838180	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:112838180C>A	uc001kzo.3	+	0	1391	c.426C>A	c.(424-426)atC>atA	p.I142I		NM_000681	NP_000672	P08913	ADA2A_HUMAN	Homo sapiens adrenergic, alpha-2A-, receptor (ADRA2A), mRNA.	127					Rho protein signal transduction|actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	TGTGCGCCATCAGCCTGGACC	0.602000														37			11		1.61879e-10	1.62457e-10	1	1	0
ZNF532	55205	broad.mit.edu	37	18	56606836	56606836	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:56606836C>T	uc010xeg.2	+	4	2885	c.2688C>T	c.(2686-2688)atC>atT	p.I896I	ZNF532_uc002lhp.3_Silent_p.I894I|ZNF532_uc002lho.3_Silent_p.I896I|ZNF532_uc002lhr.3_Silent_p.I894I|ZNF532_uc002lhs.3_Silent_p.I894I	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	896					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ATCCTGGCATCAAGATAGGAG	0.423000														117			10		0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145039905	145039905	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:145039905C>T	uc003ijo.4	-	4	349	c.233_splice	c.e4-1	p.G78_splice	GYPA_uc003ijn.2_Splice_Site_p.G78_splice|GYPA_uc011cia.2_Splice_Site|GYPA_uc011cib.2_Splice_Site_p.G45_splice|GYPA_uc003ijp.4_Splice_Site_p.G46_splice|GYPA_uc010ioq.3_Intron|GYPA_uc010ior.3_Splice_Site_p.G13_splice|GYPA_uc010ios.1_Intron	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	78			G -> R (in ERIK antigen; dbSNP:rs1800582).		interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TACCCTTTCTCCTATAAAGCA	0.318000														74			26		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119926576	119926576	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:119926576C>T	uc001txe.3	+	4	927	c.462C>T	c.(460-462)ttC>ttT	p.F154F	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	154										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGCCCCTCTTCCGCCAGCTCT	0.517000														55			23		0	0	1	0	0
CLASRP	11129	broad.mit.edu	37	19	45572499	45572499	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45572499C>T	uc002pak.3	+	17	1965	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	CLASRP_uc002pal.3_Non-coding_Transcript|CLASRP_uc010xxh.2_Missense_Mutation_p.R561C|CLASRP_uc002pam.3_Missense_Mutation_p.R604C	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	Homo sapiens CLK4-associating serine/arginine rich protein (CLASRP), mRNA.	623	Arg-rich.				RNA splicing|mRNA processing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCGCAAGATCCGCATGAAGTA	0.667000														48			11		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7621969	7621969	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:7621969G>A	uc021pmv.1	-	8	1273	c.1167C>T	c.(1165-1167)gcC>gcT	p.A389A	ITIH5_uc021pmu.1_Silent_p.A175A|ITIH5_uc001ijr.2_Silent_p.A389A	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	389	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.V388V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGCCACTGTGGGCCACGTACT	0.602000														30			8		0	0	1	0	0
REM2	161253	broad.mit.edu	37	14	23353973	23353973	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23353973G>A	uc001whf.1	+	1	259	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	REM2_uc010tnd.1_Missense_Mutation_p.R57Q	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP binding 2 (REM2), mRNA.	65					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		GCCCCCAGACGAAGAGGCAGT	0.577000														42			24		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52571156	52571156	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:52571156G>A	uc010bff.3	-	3	525	c.363C>T	c.(361-363)atC>atT	p.I121I	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_Silent_p.I84I|MIR1266_uc021smp.1_5'Flank	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	121	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AGGCGTGGATGATGGCATCTC	0.493000														79			40		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332825	70332825	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70332825C>T	uc001oqc.3	-	20	3487	c.3375G>A	c.(3373-3375)gcG>gcA	p.A1125A	SHANK2_uc010rqn.2_Silent_p.A601A|SHANK2_uc001opz.3_Silent_p.A596A|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	812					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding	p.A596A(1)|p.A1192A(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGCCGCTGCTCGCGGAGGGCA	0.706000														64			19		0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58491601	58491601	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:58491601G>A	uc002yaz.3	-	6	592	c.453C>T	c.(451-453)ttC>ttT	p.F151F	SYCP2_uc010gju.1_Silent_p.F52F	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	151					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TGCGAGGTACGAAACTTTCCA	0.294000														77			7		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382613	22382613	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22382613C>T	uc001yuc.1	+	6	1122	c.141C>T	c.(139-141)ttC>ttT	p.F47F	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.F47F	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCATTATTTTCACCATAAGGT	0.458000														231			78		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73235205	73235205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:73235205G>A	uc004aid.3	-	14	2124	c.1880C>T	c.(1879-1881)cCt>cTt	p.P627L	TRPM3_uc004ahu.3_Missense_Mutation_p.P457L|TRPM3_uc004ahv.3_Missense_Mutation_p.P429L|TRPM3_uc004ahw.3_Missense_Mutation_p.P499L|TRPM3_uc004ahx.3_Missense_Mutation_p.P486L|TRPM3_uc004ahy.3_Missense_Mutation_p.P489L|TRPM3_uc004ahz.3_Missense_Mutation_p.P476L|TRPM3_uc004aia.3_Missense_Mutation_p.P474L|TRPM3_uc004aib.3_Missense_Mutation_p.P464L|TRPM3_uc004aic.3_Missense_Mutation_p.P627L	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	652						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTTGATCTCAGGATCATCCAA	0.498000														157			48		0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65632592	65632592	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65632592C>T	uc001ofv.4	+	12	1730	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	MUS81_uc001ofx.4_Silent_p.F16F	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.	459					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		TCAGTGACTTCAACGCAGGAG	0.597000								Homologous recombination						190			86		0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46946124	46946124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:46946124C>T	uc010acl.3	-	2	1092	c.487G>A	c.(487-489)Gac>Aac	p.D163N	KIAA0226L_uc001vbf.4_Missense_Mutation_p.D96N|KIAA0226L_uc010tfz.2_Intron|KIAA0226L_uc010acn.3_Intron|KIAA0226L_uc010acm.3_Missense_Mutation_p.D28N|KIAA0226L_uc001vbe.4_Missense_Mutation_p.D163N|KIAA0226L_uc001vbh.4_Missense_Mutation_p.D163N|KIAA0226L_uc001vbi.4_Intron|KIAA0226L_uc010aco.1_Missense_Mutation_p.D163N	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	163										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AAAGCACTGTCAGTCTCAGGA	0.517000														32			9		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28971146	28971146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28971146G>A	uc002kwr.2	+	6	925	c.790G>A	c.(790-792)Gat>Aat	p.D264N	DSG4_uc002kwq.2_Missense_Mutation_p.D264N	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	264	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGACGTCAACGATAATTTCCC	0.388000														72			29		0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39382856	39382857	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:39382856_39382857GG>AA	uc003jlx.3	-	9	1735_1736	c.1204_1205CC>TT	c.(1204-1206)cct>TTt	p.P402F	DAB2_uc003jlw.3_Missense_Mutation_p.P381F	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	402					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TCCTTTGGGAGGGCTTCCCACA	0.505000														89			30		0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110760036	110760036	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:110760036G>A	uc003puf.3	-	4	1265	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	SLC22A16_uc003pue.3_Missense_Mutation_p.P381S	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	400					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GTGTAGGCGGGAATTTCCACT	0.542000														28			23		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79032165	79032165	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:79032165G>A	uc003kgc.3	+	1	7649	c.7577G>A	c.(7576-7578)aGa>aAa	p.R2526K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2526						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TACAATGAAAGACCCAAAATC	0.378000														33			15		0	0	1	0	0
ZNF839	55778	broad.mit.edu	37	14	102802155	102802155	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:102802155C>T	uc010awk.1	+	4	1646	c.1639C>T	c.(1639-1641)Ctg>Ttg	p.L547L	ZNF839_uc001ylo.2_Silent_p.L431L|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Silent_p.L431L|ZNF839_uc001ylr.2_Silent_p.L356L|ZNF839_uc001yls.2_Silent_p.L46L|ZNF839_uc001ylt.2_Silent_p.L21L	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	Homo sapiens zinc finger protein 839 (ZNF839), mRNA.	431						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CCAGGAGACCCTGGAAATAAA	0.413000														40			20		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123725021	123725021	+	Missense_Mutation	SNP	G	A	A	rs138933092		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:123725021G>A	uc004bkv.3	-	35	4462	c.4432C>T	c.(4432-4434)Cgg>Tgg	p.R1478W		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1478					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	p.R1478W(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCAAATATCCGGAATCGTACA	0.373000														136			9		0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114061871	114061871	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:114061871C>T	uc001kzr.1	+	8	920	c.920C>T	c.(919-921)tCc>tTc	p.S307F		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	Homo sapiens tectorin beta (TECTB), mRNA.	307						anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		AGGGGATTTTCCAGTCTCTAT	0.403000														112			49		0	0	1	0	0
KLHDC1	122773	broad.mit.edu	37	14	50210498	50210498	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:50210498C>T	uc001www.3	+	11	1099	c.1009C>T	c.(1009-1011)Caa>Taa	p.Q337*	NEMF_uc010anj.1_Intron|KLHDC1_uc010tqg.2_Nonsense_Mutation_p.Q292*|KLHDC1_uc010tqh.2_Nonsense_Mutation_p.Q252*	NM_172193	NP_751943	Q8N7A1	KLDC1_HUMAN	Homo sapiens kelch domain containing 1 (KLHDC1), mRNA.	337						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					ATTGATCTTTCAAACACAGCC	0.259000														46			15		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44913862	44913862	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:44913862C>T	uc010skz.1	-	19	2601	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	NELL2_uc001rof.3_Missense_Mutation_p.E775K|NELL2_uc001rog.2_Missense_Mutation_p.E776K|NELL2_uc001roh.2_Missense_Mutation_p.E776K|NELL2_uc009zkd.2_Missense_Mutation_p.E728K|NELL2_uc010sla.1_Missense_Mutation_p.E799K	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	776					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)		ACATTCATTTCGTCCAGGCAA	0.498000														60			15		0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122551490	122551490	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:122551490G>A	uc004etq.4	+	10	2030	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	GRIA3_uc004etr.4_Missense_Mutation_p.E580K|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.E564K	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	580					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CAGTCCTTATGAATGGCACTT	0.418000														149			41		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57859574	57859574	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57859574C>T	uc001snx.3	+	6	722	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	GLI1_uc021qzi.1_Missense_Mutation_p.P169S|GLI1_uc009zpq.3_Missense_Mutation_p.P82S	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	210			P -> A (in a breast cancer sample; somatic mutation).		epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.P210A(2)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GCCCTAGGATCCCCTGTTGGG	0.557000														89			32		0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61249308	61249308	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:61249308C>T	uc001nru.2	+	1	159	c.27C>T	c.(25-27)gtC>gtT	p.V9V	PPP1R32_uc009ynq.2_Silent_p.V9V	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 32 (PPP1R32), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	9																	CCCTGGGGGTCGTCTCCCCTT	0.637000														30			5		0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107314668	107314668	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107314668G>A	uc003vep.3	+	4	699	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	Mir_548_uc022ajy.1_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	159					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GGCCCCCGACGAACACTTTCT	0.433000									Pendred syndrome					110			41		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250254	140250254	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140250254G>A	uc003lia.2	+	0	2424	c.1566G>A	c.(1564-1566)ttG>ttA	p.L522L	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_uc011dae.2_Silent_p.L522L	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	537	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGCCGTTGGACCACGAGG	0.682000														149			55		0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	769422	769423	+	Missense_Mutation	DNP	GG	AA	AA	rs142141660		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:769422_769423GG>AA	uc010krz.1	+	1	738_739	c.718_719GG>AA	c.(718-720)ggg>AAg	p.G240K	PRKAR1B_uc021zyj.1_5'Flank|PRKAR1B_uc021zyk.1_5'Flank|PRKAR1B_uc003siw.2_5'Flank|HEATR2_uc003siz.2_Missense_Mutation_p.G108K	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	240							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TTTTGGCAACGGGAAGTCCGTG	0.574000														41			18		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47379867	47379867	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:47379867C>T	uc002leb.2	-	30	4461	c.4173G>A	c.(4171-4173)gtG>gtA	p.V1391V	MYO5B_uc002lea.2_Silent_p.V506V	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1391					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CGCCGAATTCCACCTGGGCCT	0.567000														70			35		0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42090779	42090779	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42090779C>T	uc002ore.4	+	3	876	c.780C>T	c.(778-780)ctC>ctT	p.L260L	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Silent_p.L259L	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	260						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GTTTCCTGCTCCTCCGAAAAA	0.537000														12			6		0	0	1	0	0
HPCAL4	51440	broad.mit.edu	37	1	40149780	40149780	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:40149780G>A	uc001cdr.3	-	2	327	c.207C>T	c.(205-207)ttC>ttT	p.F69F	HPCAL4_uc010oix.2_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	Homo sapiens hippocalcin like 4 (HPCAL4), mRNA.	69	EF-hand 2.				central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGAAGGTGCGGAAAGCGTGCT	0.677000														43			20		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168244307	168244307	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:168244307G>A	uc010jjg.3	-	7	1211	c.791C>T	c.(790-792)cCa>cTa	p.P264L	SLIT3_uc003mab.3_Missense_Mutation_p.P264L|SLIT3_uc010jji.2_Missense_Mutation_p.P264L|SLIT3_uc003mac.1_Missense_Mutation_p.P61L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	264	LRRCT 1.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCTCACCTGGGCACACGTA	0.572000														41			19		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922597	24922597	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24922597C>T	uc001ywo.3	+	0	2057	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	528	Pro-rich.				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)		CCTCCTCTTTCCTTCCTGACT	0.532000														213			81		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885902	24885902	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24885902C>T	uc001wpf.4	+	8	5265	c.4947C>T	c.(4945-4947)ttC>ttT	p.F1649F		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1649	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGGAGGCATTCCCCCTGAAGC	0.602000														49			12		0	0	1	0	0
PIGV	55650	broad.mit.edu	37	1	27124182	27124182	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27124182C>T	uc001bmz.3	+	3	1692	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	PIGV_uc001bna.3_Silent_p.S443S|PIGV_uc010ofg.2_Silent_p.S208S	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA.	443					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		CAGAGGACTCCCCACCAGGAC	0.478000														65			12		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151835975	151835975	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:151835975G>A	uc003wla.3	-	57	14768	c.14549C>T	c.(14548-14550)tCg>tTg	p.S4850L	MLL3_uc003wkz.3_Missense_Mutation_p.S3964L|MLL3_uc003wkx.3_Missense_Mutation_p.S1008L|MLL3_uc003wky.3_Missense_Mutation_p.S2410L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4850	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AGGTGCACACGAATGGTTGAT	0.398000			N		medulloblastoma									118			32		0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10514928	10514928	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:10514928G>A	uc001min.1	+	6	1344	c.999G>A	c.(997-999)atG>atA	p.M333I	AMPD3_uc010rbz.1_Missense_Mutation_p.M165I|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.M324I|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.M331I|AMPD3_uc009yfy.2_Missense_Mutation_p.M324I	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	324					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CCGCCTGCATGAACCAAAAGC	0.597000														142			41		0	0	1	0	0
GZMH	2999	broad.mit.edu	37	14	25076911	25076911	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:25076911C>T	uc001wpr.1	-	2	291	c.246G>A	c.(244-246)caG>caA	p.Q82Q	GZMH_uc010aly.1_Silent_p.Q82Q|GZMH_uc010alz.1_Intron	NM_033423	NP_219491	P20718	GRAH_HUMAN	Homo sapiens granzyme H (cathepsin G-like 2, protein h-CCPX) (GZMH), mRNA.	82	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	p.E81*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		GGGTCCGCTCCTGTTCCTTGA	0.542000														151			56		0	0	1	0	0
NOLC1	9221	broad.mit.edu	37	10	103912198	103912198	+	Missense_Mutation	SNP	C	T	T	rs145813353		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:103912198C>T	uc001kup.2	+	0	266	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	NOLC1_uc001kuo.2_Missense_Mutation_p.P11S|NOLC1_uc001kuq.2_Missense_Mutation_p.P11S|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	11	LisH.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CCGCGTGGTTCCCAGCGACCT	0.622000														114			14		0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6924124	6924124	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6924124G>A	uc001qqv.2	+	4	831	c.573G>A	c.(571-573)aaG>aaA	p.K191K	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Silent_p.K136K|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	191	Ig-like C2-type 1.		K -> E (in dbSNP:rs28917504).		T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AGAACCAGAAGAAGGTGGAGT	0.577000														31			6		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126412156	126412156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126412156G>A	uc003ifj.4	+	16	14179	c.14179G>A	c.(14179-14181)Gat>Aat	p.D4727N	FAT4_uc011cgp.2_Missense_Mutation_p.D2968N|FAT4_uc003ifi.1_Missense_Mutation_p.D2204N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4727					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCTATAAGGGATGGTAATAC	0.493000														91			35		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7773905	7773905	+	Silent	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:7773905A>T	uc001ijs.3	+	12	1755	c.1593A>T	c.(1591-1593)ggA>ggT	p.G531G		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	531					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A530T(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGGTGGCAGGAAAATTTGACC	0.433000														92			47		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129419523	129419523	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:129419523C>T	uc021zfb.1	+	3	707	c.602C>T	c.(601-603)tCa>tTa	p.S201L	LAMA2_uc003qbn.3_Missense_Mutation_p.S201L|LAMA2_uc003qbo.3_Missense_Mutation_p.S201L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	201	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATCTGCACTTCATTTTACTCC	0.433000														46			38		0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14339441	14339441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:14339441C>T	uc010uza.2	+	10	1291	c.1136C>T	c.(1135-1137)cCt>cTt	p.P379L	MKL2_uc002dcg.3_Missense_Mutation_p.P379L|MKL2_uc002dcj.3_5'Flank	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	368					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AATGCCACACCTAACACACCA	0.378000														118			30		0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67686146	67686146	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67686146C>T	uc002etn.3	+	26	2841	c.2721C>T	c.(2719-2721)gcC>gcT	p.A907A	RLTPR_uc010cel.1_Silent_p.A900A|RLTPR_uc010vjr.2_Silent_p.A871A|RLTPR_uc010vjs.1_5'Flank	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	907	Pro-rich.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGCCCCCTGCCCTACCAGCAC	0.567000														113			23		0	0	1	0	0
C3orf18	51161	broad.mit.edu	37	3	50602982	50602982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:50602982G>A	uc003dar.3	-	2	730	c.149C>T	c.(148-150)cCt>cTt	p.P50L	C3orf18_uc010hlo.3_Missense_Mutation_p.P50L|C3orf18_uc003das.3_Missense_Mutation_p.P50L|C3orf18_uc011bdr.2_Intron|C3orf18_uc010hlp.3_Intron|C3orf18_uc003dat.3_Missense_Mutation_p.P50L	NM_016210	NP_057294	Q9UK00	CC018_HUMAN	Homo sapiens chromosome 3 open reading frame 18 (C3orf18), transcript variant 1, mRNA.	50						integral to membrane				lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		AGCTGCATCAGGGATTCTGGT	0.607000														38			15		0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21911671	21911671	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:21911671G>A	uc002gza.2	+	1		c.2399G>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		GCCAACCAAAGTCAAAGAAGA	0.453000														0			2		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96239829	96239829	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:96239829C>T	uc001vmk.3	-	19	3034	c.2182G>A	c.(2182-2184)Gaa>Aaa	p.E728K	DZIP1_uc001vmj.3_Missense_Mutation_p.E204K|DZIP1_uc001vml.3_Missense_Mutation_p.E709K	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	728					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCCTCGATTTCGCTTCCCTCG	0.547000														98			39		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575371	136575371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136575371G>A	uc002tuu.1	-	5	1258	c.1247C>T	c.(1246-1248)cCc>cTc	p.P416L		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	416	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTGTTCAGGGGCCTGCGTGG	0.652000														85			46		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5222750	5222750	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:5222750G>A	uc002mbv.3	-	17	3287	c.3053C>T	c.(3052-3054)cCt>cTt	p.P1018L	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.2_Intron|PTPRS_uc002mbw.3_Missense_Mutation_p.P996L|PTPRS_uc002mbx.3_Intron|PTPRS_uc002mby.3_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1018	Fibronectin type-III 7.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GAAGGGGCCAGGGCCCCGGCG	0.746000														29			8		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193166058	193166058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:193166058C>T	uc003ftd.3	-	17	2197	c.2089G>A	c.(2089-2091)Gaa>Aaa	p.E697K	ATP13A4_uc003fte.1_Missense_Mutation_p.E697K|ATP13A4_uc011bsr.1_Missense_Mutation_p.E168K|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	697					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTTGTCTCTTCCTTCAATCGA	0.388000														45			33		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7324365	7324365	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7324365C>T	uc001mfe.3	+	1	478	c.241C>T	c.(241-243)Ccg>Tcg	p.P81S	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	81						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTGCTGGGTTCCGTGGCGAGA	0.542000														86			41		0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636582	73636582	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:73636582C>T	uc001vje.3	+	1	1169	c.845C>T	c.(844-846)cCc>cTc	p.P282L	KLF5_uc001vjd.3_Missense_Mutation_p.P191L	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Homo sapiens Kruppel-like factor 5 (intestinal) (KLF5), mRNA.	282					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.M281fs*43(1)|p.M281I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CAGGGCATGCCCCCTTGCACA	0.507000														74			45		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347138	89347138	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89347138G>A	uc002fmx.1	-	8	6273	c.5812C>T	c.(5812-5814)Ccc>Tcc	p.P1938S	ANKRD11_uc002fmy.1_Missense_Mutation_p.P1938S|ANKRD11_uc002fnc.1_Missense_Mutation_p.P1938S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P1895S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1938	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGCTGAAGGGACCCTCGTCC	0.697000														47			20		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43109528	43109528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43109528C>T	uc011dve.1	+	10	1807	c.1765C>T	c.(1765-1767)Cgt>Tgt	p.R589C	PTK7_uc003oub.1_Missense_Mutation_p.R581C|PTK7_uc003ouc.1_Missense_Mutation_p.R581C|PTK7_uc003oud.1_Missense_Mutation_p.R541C|PTK7_uc003oue.1_Missense_Mutation_p.R451C|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	581	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGGCCAGATTCGTGCCCATGT	0.657000														111			38		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21157582	21157582	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:21157582G>A	uc002zsz.4	-	12	1575	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	PI4KA_uc010gsq.2_Silent_p.F524F	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	438					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCACCACCGGGAACCTCTCGC	0.587000														67			27		0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132693826	132693826	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:132693826G>A	uc003qdf.3	-	3	683	c.584C>T	c.(583-585)cCc>cTc	p.P195L	MOXD1_uc003qde.3_Missense_Mutation_p.P127L	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	195					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GTTTGGGATGGGGACCTGTCT	0.373000														40			30		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072095	17072095	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17072095G>A	uc002zlp.1	-	0	1606	c.1346C>T	c.(1345-1347)cCt>cTt	p.P449L		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	449					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAAAGTTTTAGGAAGATACTT	0.498000														116			35		0	0	1	0	0
CCDC116	164592	broad.mit.edu	37	22	21989023	21989023	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:21989023C>T	uc002zve.3	+	3	764	c.671C>T	c.(670-672)tCg>tTg	p.S224L	CCDC116_uc011aih.1_Missense_Mutation_p.S224L	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	224										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CTGTGGGATTCGCTGGGTAGC	0.597000														227			93		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106539304	106539304	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106539304C>T	uc021ser.1	-	2082		c.37842G>A								Parts of antibodies, mostly variable regions.																		ATCCAGAAGCCTTGCAGGAGA	0.562000														40			75		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143049018	143049018	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143049018G>A	uc003wcr.1	+	22	3014	c.2927G>A	c.(2926-2928)cGa>cAa	p.R976Q	CLCN1_uc011ktc.1_Missense_Mutation_p.R588Q	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	976					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCCAGCCTGCGATCCACAGAC	0.617000														94			26		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181732596	181732596	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181732596C>T	uc009wxt.3	+	33	4939	c.4744C>T	c.(4744-4746)Cgc>Tgc	p.R1582C	CACNA1E_uc001gow.3_Missense_Mutation_p.R1582C|CACNA1E_uc009wxs.3_Missense_Mutation_p.R1563C|CACNA1E_uc001gox.1_Missense_Mutation_p.R808C	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1582					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						CCGAGCTGCCCGCCTCATAAA	0.468000														44			26		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397755	111397755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:111397755C>T	uc003iab.4	+	0	527	c.185C>T	c.(184-186)tCt>tTt	p.S62F		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	62					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CACCTGCCTTCTTCCACGGCC	0.637000														89			19		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219888004	219888004	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219888004C>T	uc002vjl.1	-	15	2829	c.2745G>A	c.(2743-2745)tgG>tgA	p.W915*		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	915	MSP.					integral to membrane	structural molecule activity	p.E914K(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGAGACCCTCCACTCGAACT	0.632000														20			5		0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32198639	32198639	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32198639G>A	uc001btn.3	-	25	3912	c.3558C>T	c.(3556-3558)ctC>ctT	p.L1186L	BAI2_uc010ogn.2_Silent_p.L156L|BAI2_uc010ogo.2_Silent_p.L795L|BAI2_uc010ogp.2_Silent_p.L1119L|BAI2_uc010ogq.2_Silent_p.L1153L|BAI2_uc001bto.3_Silent_p.L1186L|BAI2_uc001btp.1_Silent_p.L180L	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	1186					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGACAGCAAAGAGGGCCTGGA	0.647000														6			5		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21251345	21251345	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21251345G>A	uc002red.3	-	12	1811	c.1683C>T	c.(1681-1683)gcC>gcT	p.A561A		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	561	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACATAAGATAGGCAGCCAGTC	0.443000														130			23		0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183014925	183014925	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183014925G>A	uc003fli.1	-	11	1426	c.1336C>T	c.(1336-1338)Ctc>Ttc	p.L446F	MCF2L2_uc003flj.1_Missense_Mutation_p.L446F|MCF2L2_uc011bqr.1_Intron|BC013229_uc003fln.1_Non-coding_Transcript|BC040935_uc003flo.3_5'Flank	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	446					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.L446I(2)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GAAGCCAAGAGGTAGATTCCT	0.532000														64			12		0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3119116	3119116	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3119116G>A	uc002ctq.3	+	5	560	c.465G>A	c.(463-465)atG>atA	p.M155I	IL32_uc002ctn.3_Missense_Mutation_p.M109I|IL32_uc002ctk.3_Intron|IL32_uc002cto.3_Missense_Mutation_p.M155I|IL32_uc010uwp.2_Missense_Mutation_p.M89I|IL32_uc010btb.3_Missense_Mutation_p.M99I|IL32_uc002ctl.3_Missense_Mutation_p.M109I|IL32_uc002ctm.3_Missense_Mutation_p.M109I|IL32_uc002ctp.3_Missense_Mutation_p.M89I|IL32_uc002ctr.3_Missense_Mutation_p.M89I|IL32_uc002ctt.3_Missense_Mutation_p.M109I|IL32_uc010uwr.2_Missense_Mutation_p.M69I|IL32_uc002ctu.3_Missense_Mutation_p.M100I|IL32_uc021tbc.1_Intron	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	155					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						ACAAGGTCATGAGATGGTTCC	0.607000														21			8		0	0	1	0	0
PIGU	128869	broad.mit.edu	37	20	33162998	33162998	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33162998G>A	uc002xas.3	-	10	1304	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	PIGU_uc010zul.2_Silent_p.L368L|PIGU_uc002xat.3_Silent_p.L348L	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class U (PIGU), mRNA.	368					C-terminal protein lipidation|attachment of GPI anchor to protein|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						GGACAGGGAAGAGCAGGGAAC	0.493000														66			8		0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118310689	118310689	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:118310689C>T	uc001lcm.3	+	4	447	c.404C>T	c.(403-405)tCg>tTg	p.S135L		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	135					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	ACACAAGCCTCGCAGAACATC	0.463000														30			7		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567206	45567206	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:45567206G>A	uc010dnv.3	-	2	775	c.339C>T	c.(337-339)ttC>ttT	p.F113F	ZBTB7C_uc002ldb.3_Silent_p.F91F|ZBTB7C_uc010dnu.3_Silent_p.F100F|ZBTB7C_uc010dnw.3_Silent_p.F91F|ZBTB7C_uc010dnx.1_Silent_p.F91F|ZBTB7C_uc010dny.1_Silent_p.F91F|ZBTB7C_uc010dnz.1_Silent_p.F113F|ZBTB7C_uc010doi.1_Silent_p.F91F|ZBTB7C_uc010doj.1_Silent_p.F100F|ZBTB7C_uc010dok.1_Silent_p.F140F|ZBTB7C_uc010dol.1_Silent_p.F100F|ZBTB7C_uc010doa.1_Silent_p.F113F|ZBTB7C_uc010dob.1_Silent_p.F91F|ZBTB7C_uc010doc.1_Silent_p.F100F|ZBTB7C_uc010dod.1_Silent_p.F113F|ZBTB7C_uc010doe.1_Silent_p.F91F|ZBTB7C_uc010dof.1_Silent_p.F91F|ZBTB7C_uc010dog.1_Silent_p.F91F|ZBTB7C_uc010doh.1_Silent_p.F100F|ZBTB7C_uc010dom.1_Silent_p.F100F|ZBTB7C_uc010don.1_Silent_p.F99F|ZBTB7C_uc010dop.1_Silent_p.F91F|ZBTB7C_uc010doq.1_Silent_p.F100F|ZBTB7C_uc010dor.1_Silent_p.F113F|ZBTB7C_uc010dos.1_Silent_p.F91F|ZBTB7C_uc010dot.1_Silent_p.F91F|ZBTB7C_uc010doo.1_Silent_p.F91F|ZBTB7C_uc010dou.1_Silent_p.F100F	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	91						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGTGTAGGCGAACTCCAGGA	0.572000														49			22		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699252	43699252	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43699252G>A	uc002ovy.3	-	3	985	c.883C>T	c.(883-885)Ctc>Ttc	p.L295F	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.L202F	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	295	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region		p.K294K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGTAGAATGAGGATCCTGTTT	0.478000														320			27		0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71396858	71396858	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71396858C>T	uc003hfk.1	+	7	549	c.460C>T	c.(460-462)Cca>Tca	p.P154S	AMTN_uc010ihy.1_Missense_Mutation_p.P153S	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Homo sapiens amelotin (AMTN), mRNA.	154					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TGGAAGCCTTCCAGCAGGAGG	0.592000														43			22		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813462	106813462	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:106813462C>T	uc003ymd.3	+	7	1175	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	ZFPM2_uc011lhs.2_Silent_p.L115L	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	384					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACCAGGAGCTCCATGTCCCTA	0.507000														141			25		0	0	1	0	0
STMN3	50861	broad.mit.edu	37	20	62275220	62275220	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62275220G>A	uc002yfr.1	-	2	262	c.180C>T	c.(178-180)tcC>tcT	p.S60S	STMN3_uc021wgd.1_Non-coding_Transcript	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	Homo sapiens stathmin-like 3 (STMN3), mRNA.	60					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of Rac GTPase activity|regulation of cytoskeleton organization	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			GGTCAGAAGGGGACTTGAGGA	0.617000														100			41		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57537224	57537224	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57537224C>T	uc009vzx.1	-	5	849	c.529G>A	c.(529-531)Gat>Aat	p.D177N	DAB1_uc001cyt.1_Missense_Mutation_p.D177N|DAB1_uc001cyq.1_Missense_Mutation_p.D177N|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Missense_Mutation_p.D177N|DAB1_uc001cys.1_Missense_Mutation_p.D177N	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	177	PID.				cell differentiation|nervous system development			p.D177Y(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CACTGCTTATCCTTTTGTGCC	0.393000														61			27		0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16466515	16466515	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:16466515G>A	uc021trd.1	-	4	1278	c.660C>T	c.(658-660)ccC>ccT	p.P220P	ZNF287_uc002gqi.2_Silent_p.P220P	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	213	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTTCCAATATGGGAATCACAG	0.368000														58			14		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86114835	86114835	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:86114835C>T	uc003dql.3	+	8	1150	c.1150C>T	c.(1150-1152)Ctg>Ttg	p.L384L	CADM2_uc003dqj.3_Silent_p.L382L|CADM2_uc003dqk.3_Silent_p.L351L|CADM2_uc003dqm.2_Silent_p.L274L|CADM2_uc021xay.1_Silent_p.L234L|CADM2_uc021xaz.1_Silent_p.L234L|CADM2_uc021xba.1_Silent_p.L274L	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	382					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.T383M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATTTGTCACGCTGTGTTCTAT	0.423000														64			12		0	0	1	0	0
COG6	57511	broad.mit.edu	37	13	40239278	40239278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:40239278C>T	uc001uxh.2	+	3	515	c.415C>T	c.(415-417)Ctt>Ttt	p.L139F	COG6_uc001uxi.2_Missense_Mutation_p.L87F|COG6_uc010acb.2_Missense_Mutation_p.L139F	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.	139					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		AACCACTAAGCTTCAATCTGA	0.259000														71			27		0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27844028	27844028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27844028C>T	uc002rla.3	+	13	1491	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	ZNF512_uc010ylw.2_Silent_p.F439F|ZNF512_uc002rlb.3_Silent_p.F389F|ZNF512_uc010ylx.2_Silent_p.F389F|ZNF512_uc002rlc.3_Silent_p.F389F|ZNF512_uc010ylv.2_Silent_p.F389F|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_Silent_p.F361F	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	Homo sapiens zinc finger protein 512 (ZNF512), mRNA.	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F468F(4)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AGGACTGGTTCGTTGTAAACC	0.418000														74			22		0	0	1	0	0
UBE3D	90025	broad.mit.edu	37	6	83728787	83728787	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:83728787G>A	uc003pjp.2	-	7	1023	c.915C>T	c.(913-915)ttC>ttT	p.F305F	UBE3D_uc011dyx.1_Non-coding_Transcript|UBE3D_uc003pjq.3_Silent_p.F95F	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2C binding protein (UBE2CBP), mRNA.	305						cytoplasm	ligase activity										CCAACAAGGGGAATTTTTTGA	0.378000														38			29		0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53885197	53885197	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53885197C>T	uc010eqn.3	+	3	1450	c.1257C>T	c.(1255-1257)acC>acT	p.T419T	ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.2_Intron					Homo sapiens zinc finger protein 525 (ZNF525), non-coding RNA.											endometrium(3)|kidney(3)|lung(3)	9						TATCCCTTACCTGCCATTGTA	0.378000														39			21		0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45805827	45805827	+	Silent	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45805827C>G	uc002pbb.2	+	16	2449	c.2118C>G	c.(2116-2118)ccC>ccG	p.P706P	MARK4_uc002pba.2_3'UTR	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	706	KA1.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGGGCGGGCCCGAGCCCCTGT	0.741000														7			5		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170096247	170096247	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170096247G>A	uc002ues.3	-	25	4297	c.4084C>T	c.(4084-4086)Cac>Tac	p.H1362Y		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1362	EGF-like 5.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACACACTCGTGAGTACAACCA	0.383000														69			26		0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6977581	6977581	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6977581G>A	uc001mey.3	+	6	1961	c.1373G>A	c.(1372-1374)gGa>gAa	p.G458E	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Missense_Mutation_p.G220E|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	458					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CTCCATTTTGGAAACAATTTC	0.393000														70			19		0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16339859	16339859	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:16339859G>A	uc021whl.1	-	0	655	c.655C>T	c.(655-657)Cct>Tct	p.P219S	NRIP1_uc002yjx.2_Missense_Mutation_p.P219S	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	219	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ACATGATGAGGAGACTCTGCA	0.403000														111			32		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233986949	233986949	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233986949G>A	uc010zmo.2	+	2	484	c.331G>A	c.(331-333)Gac>Aac	p.D111N	INPP5D_uc010zmp.2_Missense_Mutation_p.D111N	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	111					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)		CACAGGCGACGACCCTGAGGA	0.567000														29			13		0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132522	59132522	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59132522G>A	uc010rks.2	+	0	591	c.591G>A	c.(589-591)caG>caA	p.Q197Q		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TCTTTGTACAGGTCATGACTG	0.408000														113			55		0	0	1	0	0
RHOH	399	broad.mit.edu	37	4	40245409	40245409	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:40245409G>A	uc003guz.2	+	2	1127	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	RHOH_uc021xnp.1_Missense_Mutation_p.E135K	NM_004310	NP_004301	Q15669	RHOH_HUMAN	Homo sapiens ras homolog gene family, member H (RHOH), mRNA.	135					T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CAATGCCATGGAAGGGAAGAA	0.612000														46			20		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142605697	142605697	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142605697C>T	uc003wby.1	-	14	2437	c.2173G>A	c.(2173-2175)Gag>Aag	p.E725K		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	725	Involved in Ca(2+)-dependent inactivation (By similarity).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.E724*(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TGGTAGACCTCCTCTCCATCC	0.557000														69			27		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45945569	45945569	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45945569C>T	uc002zfe.1	-	7	1369	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	TSPEAR_uc010gpv.1_Missense_Mutation_p.E367K	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	435					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGGAAGTGCTCCCCATCCACC	0.592000														128			53		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294157	25294158	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25294157_25294158GG>AA	uc003abg.2	+	19	2563_2564	c.2406_2407GG>AA	c.(2404-2409)acggtg>acAAtg	p.V803M	SGSM1_uc010guu.1_Missense_Mutation_p.V748M|SGSM1_uc003abh.2_Missense_Mutation_p.V742M|SGSM1_uc003abj.2_Missense_Mutation_p.V687M|SGSM1_uc003abi.1_Missense_Mutation_p.V723M	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	803	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACACCCCCACGGTGCTGCGACC	0.629000														66			13		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324243	161324243	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:161324243G>A	uc010jiw.3	+	10	1654	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	GABRA1_uc010jix.3_Missense_Mutation_p.E396K|GABRA1_uc010jiy.3_Missense_Mutation_p.E396K|GABRA1_uc003lyx.4_Missense_Mutation_p.E396K|GABRA1_uc010jiz.3_Missense_Mutation_p.E396K|GABRA1_uc010jja.3_Missense_Mutation_p.E396K|GABRA1_uc010jjb.3_Missense_Mutation_p.E396K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	396					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TGCAACCATAGAACCTAAAGA	0.478000														136			25		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1270929	1270929	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1270929G>A	uc001lta.3	+	30	12878	c.12819G>A	c.(12817-12819)ccG>ccA	p.P4273P		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4273	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTCCACCCCGGGAACAGCTC	0.637000														154			24		0	0	1	0	0
DSCR4	10281	broad.mit.edu	37	21	39427006	39427006	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:39427006G>A	uc002ywp.3	-	2	405	c.300C>T	c.(298-300)ctC>ctT	p.L100L		NM_005867	NP_005858	P56555	DSCR4_HUMAN	Homo sapiens Down syndrome critical region gene 4 (DSCR4), mRNA.	100										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						ATTTCTTGTGGAGCCCATGGA	0.463000														88			36		0	0	1	0	0
RPSA	3921	broad.mit.edu	37	19	24010549	24010549	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:24010549G>A	uc002nrn.3	+	3	1009	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	196					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	p.E196Q(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ACACCCATGGGAGGTCATGCC	0.522000														27			10		0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153724787	153724787	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153724787C>T	uc009wom.3	+	8	983	c.762C>T	c.(760-762)ctC>ctT	p.L254L	INTS3_uc001fct.3_Silent_p.L254L|INTS3_uc001fcu.3_5'UTR|INTS3_uc001fcv.3_Silent_p.L48L|INTS3_uc010peb.2_Silent_p.L48L|INTS3_uc001fcw.3_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	255					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTCGGGATCTCGTAAGACTAC	0.428000														269			89		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30091926	30091926	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:30091926G>A	uc010dmc.3	+	0		c.301G>A								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		AACAGCTCATGATGGTTTGAG	0.448000														55			20		0	0	1	0	0
AQP12B	653437	broad.mit.edu	37	2	241622226	241622226	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241622226A>T	uc010fzj.3	-	0	92	c.29T>A	c.(28-30)tTc>tAc	p.F10Y	AQP12B_uc002vzt.3_Intron	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN	Homo sapiens aquaporin 12B (AQP12B), mRNA.	10						integral to membrane	transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGCAAAGAAGAAGGAGAGGGA	0.667000														75			29		0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166418738	166418738	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:166418738G>A	uc003irg.4	+	8	1684	c.1407G>A	c.(1405-1407)atG>atA	p.M469I		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	469					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTGGAAAATGATGTCAGAAA	0.289000														56			24		0	0	1	0	0
TMCO1	54499	broad.mit.edu	37	1	165697266	165697266	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:165697266G>A	uc001gdj.4	-	6	708	c.561C>T	c.(559-561)ttC>ttT	p.F187F	TMCO1_uc001gdk.4_Silent_p.F175F|TMCO1_uc001gdn.4_Non-coding_Transcript	NM_019026	NP_061899	Q9UM00	TMCO1_HUMAN	Homo sapiens transmembrane and coiled-coil domains 1 (TMCO1), transcript variant 1, mRNA.	187						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					GAGTTCAAGAGAACTTCCCAG	0.473000														90			28		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151085969	151085969	+	Silent	SNP	G	A	A	rs146195573		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151085969G>A	uc003eyp.3	+	22	3504	c.3375G>A	c.(3373-3375)gcG>gcA	p.A1125A	MED12L_uc011bnz.2_Silent_p.A985A|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Silent_p.A288A	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1125					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.G1124G(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCCTGGGGCGAGAATGACAT	0.517000														54			9		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150714977	150714977	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:150714977C>T	uc003lty.3	-	5	787	c.657G>A	c.(655-657)cgG>cgA	p.R219R	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Silent_p.R21R|SLC36A2_uc010jhv.2_Silent_p.R219R	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	219					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTGAGGTTCCGGATGAGGA	0.537000														80			14		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134980913	134980913	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:134980913C>T	uc001llz.1	+	1	132	c.131C>T	c.(130-132)tCc>tTc	p.S44F	KNDC1_uc001lma.1_5'UTR	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	44	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GACATCCTCTCCCTGCGGGAC	0.711000														4			3		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086691	100086691	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100086691C>T	uc003uvd.1	+	3	1506	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	NYAP1_uc003uve.1_Silent_p.L231L	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	449	Pro-rich.																ccgccTTGCTCCCCGGCCCCC	0.721000														6			3		0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95480899	95480899	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:95480899G>A	uc004asp.1	-	4	2085	c.2028C>T	c.(2026-2028)atC>atT	p.I676I	BICD2_uc004aso.1_Silent_p.I676I	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	676	Interacts with RAB6A (By similarity).				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCAGCTTGAGGATCTCCTCCA	0.642000														183			22		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119727714	119727715	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:119727714_119727715GG>AA	uc002tln.1	+	2	356_357	c.224_225GG>AA	c.(223-225)cgg>cAA	p.R75Q	MARCO_uc010yyf.1_5'UTR	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	75					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						GCGCGGCTCCGGGTCCTGGAGA	0.564000														75			19		0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544406	53544406	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:53544406G>A	uc001cuv.3	+	7	1536	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E	PODN_uc010onr.2_Silent_p.E437E|PODN_uc010ons.2_Silent_p.E314E|PODN_uc001cuw.3_Silent_p.E437E	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	408					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCTGGAGGAGCTCAACCTCA	0.657000														118			49		0	0	1	0	0
LOC441455	441455	broad.mit.edu	37	9	99488111	99488111	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:99488111C>T	uc011luo.1	+	0		c.9C>T								Homo sapiens makorin ring finger protein 1 pseudogene (LOC441455), non-coding RNA.																		tggtcaCCACCCCATCCCCAG	0.522000														6			3		0	0	1	0	0
CLNK	116449	broad.mit.edu	37	4	10599661	10599661	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:10599661C>T	uc003gmo.4	-	2	161	c.24G>A	c.(22-24)aaG>aaA	p.K8K	CLNK_uc003gmp.3_5'UTR	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.	8					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						CTTTAGTTGTCTTTCTATTGC	0.338000														12			7		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20488720	20488720	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20488720G>A	uc010bwe.3	+	9	1367	c.1128G>A	c.(1126-1128)atG>atA	p.M376I	ACSM2A_uc010vax.1_Missense_Mutation_p.M297I|ACSM2A_uc002dhf.4_Missense_Mutation_p.M376I|ACSM2A_uc002dhg.4_Missense_Mutation_p.M376I|ACSM2A_uc010vay.2_Missense_Mutation_p.M297I|ACSM2A_uc002dhh.4_Missense_Mutation_p.M6I	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	376					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCAAGACAATGAAAATCAAAC	0.443000														75			27		0	0	1	0	0
ZBTB32	27033	broad.mit.edu	37	19	36207515	36207515	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36207515C>T	uc002oay.3	+	5	1535	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F	ZBTB32_uc002oaz.3_Non-coding_Transcript|MLL2_uc021usu.1_5'Flank|MLL2_uc021usv.1_5'Flank	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	Homo sapiens zinc finger and BTB domain containing 32 (ZBTB32), mRNA.	442					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCCTGGCCTCCATGCAGGCG	0.711000											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		69			31		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825147	74825147	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:74825147G>A	uc021rwl.1	+	0	1661	c.1661G>A	c.(1660-1662)gGc>gAc	p.G554D	VRTN_uc001xpw.4_Missense_Mutation_p.G554D	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	554					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						TGGCCCAGAGGCCTGTCCAAA	0.627000														100			37		0	0	1	0	0
TUBA4A	7277	broad.mit.edu	37	2	220116411	220116411	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220116411C>T	uc002vkt.1	-	2	309	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	TUBA4A_uc010zkz.1_Missense_Mutation_p.R69Q|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.	84					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGAGCTGTCGGTATGGGCC	0.542000														39			27		0	0	1	0	0
KIAA1383	54627	broad.mit.edu	37	1	232941087	232941087	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:232941087C>T	uc001hvh.2	+	0	450	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	0										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				TTCCGCAAATCTCGCGAGATA	0.602000														56			15		0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36122898	36122898	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:36122898C>T	uc003zyv.3	+	20	2858	c.2772C>T	c.(2770-2772)gtC>gtT	p.V924V	RECK_uc003zyw.3_Silent_p.V796V|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	924						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CGTCCCATGTCCCTCTCTCTG	0.557000														126			35		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904976	73904976	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:73904976G>T	uc011dyh.2	+	14	3042	c.2695G>T	c.(2695-2697)Gag>Tag	p.E899*	KCNQ5_uc011dyi.2_Nonsense_Mutation_p.E890*|KCNQ5_uc010kat.3_Nonsense_Mutation_p.E871*|KCNQ5_uc003pgk.3_Nonsense_Mutation_p.E880*|KCNQ5_uc011dyj.2_Nonsense_Mutation_p.E770*|KCNQ5_uc011dyk.2_Nonsense_Mutation_p.E630*	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	880					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GGGTCCCGAAGAGACAGAGAC	0.507000														132			8		0.000274275	0.000274594	1	1	0
HRNR	388697	broad.mit.edu	37	1	152188066	152188066	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152188066G>A	uc001ezt.1	-	2	6115	c.6039C>T	c.(6037-6039)tcC>tcT	p.S2013S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2013					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGGTAGAGGAATGACCTG	0.557000														563			42		0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31008470	31008470	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:31008470G>A	uc003tbx.3	+	1	127	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	GHRHR_uc003tby.3_5'Flank|GHRHR_uc003tbz.3_5'Flank	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	27					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CATGCACCCAGAATGTGACTT	0.547000														48			12		0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8612237	8612237	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8612237G>A	uc001qum.1	+	2	283	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA.	56					defense response to fungus|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine secretion	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					AAGGCTGTCTGAACTACACTC	0.363000														148			20		0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14156999	14156999	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:14156999G>A	uc001mle.3	+	6	975	c.707G>A	c.(706-708)gGa>gAa	p.G236E		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	237	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		ATCATCGGAGGATCCCACTCC	0.507000														66			20		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124045738	124045738	+	Silent	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124045738G>C	uc001lgc.1	+	4	611	c.360G>C	c.(358-360)ctG>ctC	p.L120L	BTBD16_uc001lgd.1_Silent_p.L119L	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	120										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CACACCCCCTGAGGGAGCTGG	0.602000														96			35		0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159462467	159462467	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:159462467C>T	uc003qrz.3	-	5	728	c.396G>A	c.(394-396)aaG>aaA	p.K132K	TAGAP_uc011eft.2_Silent_p.K69K|TAGAP_uc003qsa.3_5'UTR|TAGAP_uc003qsb.3_Silent_p.K132K	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	132	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCTTCAGCTCCTTACGGGCTT	0.522000														48			24		0	0	1	0	0
HAT1	8520	broad.mit.edu	37	2	172803273	172803273	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:172803273C>T	uc002uhi.3	+	2	234	c.158C>T	c.(157-159)cCt>cTt	p.P53L	HAT1_uc010fqi.2_5'UTR|HAT1_uc002uhj.3_Intron	NM_003642	NP_003633	O14929	HAT1_HUMAN	Homo sapiens histone acetyltransferase 1 (HAT1), transcript variant 1, mRNA.	53					DNA packaging|chromatin silencing at telomere	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			ACTTTCTTTCCTGAGTATACC	0.279000														99			29		0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92606763	92606763	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:92606763C>T	uc001doo.3	+	6	1192	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	BTBD8_uc010otc.2_Intron	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA.	309						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TAATTTCTTTCAGAAGGTAAT	0.299000														56			26		0	0	1	0	0
DYDC2	84332	broad.mit.edu	37	10	82122265	82122265	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:82122265G>A	uc001kca.1	+	2	446	c.66G>A	c.(64-66)gcG>gcA	p.A22A	DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Silent_p.A22A	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Homo sapiens DPY30 domain containing 2 (DYDC2), mRNA.	22							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			CAGAGGTGGCGAAGGTTCGGC	0.488000														52			24		0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66204690	66204690	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:66204690G>A	uc011dxu.1	-	3	1152	c.614C>T	c.(613-615)cCa>cTa	p.P205L	EYS_uc003peq.3_Missense_Mutation_p.P205L|EYS_uc003per.1_Missense_Mutation_p.P205L|EYS_uc021zbn.1_Missense_Mutation_p.P205L|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	205	EGF-like 1.				response to stimulus|visual perception	extracellular region	calcium ion binding	p.P204H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCCAGAAAATGGAGGCTGGCA	0.393000														45			16		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47514787	47514787	+	Missense_Mutation	SNP	G	A	A	rs149671949		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47514787G>A	uc003gxk.1	+	1	394	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	ATP10D_uc003gxj.3_Missense_Mutation_p.R77Q	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	77					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AATCGAATACGAACAACAAAG	0.388000														47			23		0	0	1	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75167517	75167517	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:75167517C>T	uc011cbk.2	+	7	1062	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	MTHFD2L_uc003hhu.3_Non-coding_Transcript|BC016361_uc003hhv.1_Intron	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA.	287					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			CTAAAAAAATCATTTACTAGA	0.363000														41			11		0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821945	206821945	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:206821945C>T	uc001hej.3	+	2	1570	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Missense_Mutation_p.R448C	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	468	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TGTGGGGGGTCGCTCACGTAG	0.522000														188			71		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29562632	29562632	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:29562632G>T	uc002hgg.3	+	27	4095	c.3712G>T	c.(3712-3714)Gaa>Taa	p.E1238*	NF1_uc002hgh.3_Nonsense_Mutation_p.E1238*|NF1_uc010csn.2_Nonsense_Mutation_p.E1098*|NF1_uc002hgi.1_Nonsense_Mutation_p.E271*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1238	Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.E1238E(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCTCAGGATGAACTAGCTCG	0.378000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				131			84		4.02937e-33	4.05436e-33	1	1	0
EPHA8	2046	broad.mit.edu	37	1	22927862	22927862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22927862C>T	uc001bfx.1	+	15	2924	c.2799C>T	c.(2797-2799)ctC>ctT	p.L933L		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	933	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTGGGGGCCTCACCGTGGGGG	0.677000														63			15		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39880407	39880407	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:39880407G>C	uc001zkh.3	+	8	1638	c.1459G>C	c.(1459-1461)Gac>Cac	p.D487H	THBS1_uc010bbi.3_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	487	TSP type-1 2.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTGCAAGAAAGACGCCTGCCC	0.612000														44			22		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7242285	7242285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7242285G>A	uc010sfy.2	-	3	528	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	C1R_uc010sfz.1_Missense_Mutation_p.P171S|C1R_uc021quh.1_Missense_Mutation_p.P46S|C1R_uc010sga.1_Missense_Mutation_p.P123S	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	157	EGF-like; calcium-binding (Potential).				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	TGGGGCTGGGGATCCTCCTCC	0.562000														40			23		0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	724744	724744	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:724744C>T	uc001lqt.3	+	15	1722	c.1475C>T	c.(1474-1476)gCc>gTc	p.A492V	EPS8L2_uc001lqu.3_Missense_Mutation_p.A492V|EPS8L2_uc010qwk.2_Missense_Mutation_p.A508V|EPS8L2_uc001lqv.3_Missense_Mutation_p.A447V|EPS8L2_uc001lqw.3_Missense_Mutation_p.A104V|EPS8L2_uc001lqx.3_Missense_Mutation_p.A104V|EPS8L2_uc001lqy.3_5'UTR	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	492	SH3.					cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAACACCAGCCATGGCCAAG	0.617000														41			20		0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123516367	123516367	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123516367C>T	uc001pza.1	-	2	554	c.147G>A	c.(145-147)atG>atA	p.M49I	SCN3B_uc001pzb.1_Missense_Mutation_p.M49I	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	49	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		CCTCTCTCTTCATGCAGGAGA	0.577000														133			27		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51205785	51205785	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51205785C>T	uc002psx.1	-	10	1705	c.1686G>A	c.(1684-1686)gtG>gtA	p.V562V		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	562	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGTAGGACTTCACAGCCATGA	0.697000														23			3		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114276620	114276620	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:114276620C>T	uc003ibe.4	+	37	6946	c.6846C>T	c.(6844-6846)acC>acT	p.T2282T	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.T2297T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2249					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCCCACGACCAAAGACATTA	0.483000														39			12		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20636224	20636224	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:20636224G>A	uc001mqd.3	+	6	1259	c.986_splice	c.e6-1	p.D329_splice	SLC6A5_uc009yic.3_Splice_Site_p.D94_splice	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	329					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTCCTAAACAGATTCCTGTGT	0.393000														105			38		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160793318	160793318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160793318C>T	uc001fwu.3	+	7	1612	c.1562C>T	c.(1561-1563)cCc>cTc	p.P521L	LY9_uc001fwv.3_Missense_Mutation_p.P507L|LY9_uc001fww.3_Missense_Mutation_p.P431L|LY9_uc001fwy.1_Missense_Mutation_p.P319L|LY9_uc001fwz.3_Missense_Mutation_p.P159L	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	521					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGGACACTCCCCTCAGGCCT	0.557000														37			19		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21216837	21216837	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21216837C>T	uc003zor.1	-	0	474	c.468G>A	c.(466-468)ggG>ggA	p.G156G	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	156					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGTATTTCTTCCCCATCAGAT	0.438000														403			44		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113388725	113388725	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113388725C>T	uc001tug.3	+	6	1689	c.1602C>T	c.(1600-1602)tcC>tcT	p.S534S		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	534	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AGCTGGTGTCCACAGCCCTGA	0.612000														40			21		0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63529378	63529378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:63529378G>A	uc011kdm.2	+	1	292	c.113G>A	c.(112-114)gGa>gAa	p.G38E		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	38	KRAB.				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						GAGAACTACGGAAACCTGTTC	0.388000														34			8		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952570	54952570	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:54952570G>A	uc003dhl.3	-	2	1088	c.954C>T	c.(952-954)gcC>gcT	p.A318A	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	318						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CATGGTACTGGGCTGTGATTG	0.517000														147			80		0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10291178	10291178	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10291178C>T	uc011atr.2	+	1	875	c.294C>T	c.(292-294)tcC>tcT	p.S98S	TATDN2_uc003bvg.2_Silent_p.S98S|TATDN2_uc003bvf.3_Silent_p.S98S|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	98						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGGCCGCCTCCAAAGGCTGCC	0.612000														174			60		0	0	1	0	0
C3orf25	90288	broad.mit.edu	37	3	129123158	129123158	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:129123158C>T	uc003emg.3	-	6	1501	c.1338G>A	c.(1336-1338)aaG>aaA	p.K446K		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						GAGAAAAGACCTTCCAGTCAG	0.572000														87			38		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61778406	61778406	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:61778406C>T	uc003xue.3	+	37	9400	c.8908C>T	c.(8908-8910)Ctc>Ttc	p.L2970F	CHD7_uc022aux.1_Missense_Mutation_p.L921F	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2970					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGAGTCCTCCCTCTTAGAAGA	0.488000														16			8		0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89052351	89052351	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:89052351C>T	uc003hrg.3	-	4	886	c.393G>A	c.(391-393)atG>atA	p.M131I	ABCG2_uc003hrh.3_Missense_Mutation_p.M131I|ABCG2_uc003hrf.3_Missense_Mutation_p.M1I	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	131	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TCAGAGTGCCCATCACAACAT	0.378000														111			23		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153585856	153585856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:153585856G>A	uc004fkk.2	-	28	5140	c.4891C>T	c.(4891-4893)Ccg>Tcg	p.P1631S	FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Missense_Mutation_p.P1631S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1631					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGCGGTACGGGGAGAAGGGG	0.652000														12			14		0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48266805	48266805	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:48266805C>T	uc001ngs.1	+	0	150	c.150C>T	c.(148-150)ccC>ccT	p.P50P		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P50P(2)|p.P50T(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TTGGTTCCCCCATGTACTTCT	0.488000														51			31		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328402	3328402	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3328402C>T	uc001akf.3	+	8	1723	c.1641C>T	c.(1639-1641)ctC>ctT	p.L547L	PRDM16_uc001ake.3_Silent_p.L547L|PRDM16_uc009vlh.3_Silent_p.L248L|PRDM16_uc001akc.3_Silent_p.L547L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	547	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACGCCAAGCTCCCCAGTCCCC	0.682000			T	EVI1	"""MDS, AML"""									105			47		0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543331	182543331	+	Missense_Mutation	SNP	G	A	A	rs147793698	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:182543331G>A	uc021vto.1	-	0	257	c.257C>T	c.(256-258)cCc>cTc	p.P86L	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.P86L|NEUROD1_uc021vtn.1_Missense_Mutation_p.P86L	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	86					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTTCTTTTTGGGGCCGCGTCT	0.562000														35			7		0	0	1	0	0
KLRD1	3824	broad.mit.edu	37	12	10464155	10464155	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10464155C>T	uc009zhi.3	+	3	516	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	KLRD1_uc001qxw.4_Missense_Mutation_p.R86W|KLRD1_uc001qxx.4_Missense_Mutation_p.R86W|KLRD1_uc001qxy.4_Missense_Mutation_p.R55W|KLRD1_uc009zhh.3_Missense_Mutation_p.R65W|KLRD1_uc001qxz.4_Missense_Mutation_p.R86W			Q13241	KLRD1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily D, member 1 (KLRD1), transcript variant 1, mRNA.	86	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						GAACGAAAGTCGGCATCTCTG	0.438000														82			19		0	0	1	0	0
ALOX5AP	241	broad.mit.edu	37	13	31318223	31318223	+	Missense_Mutation	SNP	G	A	A	rs146973182		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:31318223G>A	uc010tdr.2	+	2	516	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	ALOX5AP_uc001utf.2_Missense_Mutation_p.E33K	NM_001204406	NP_001191335	P20292	AL5AP_HUMAN	Homo sapiens arachidonate 5-lipoxygenase-activating protein (ALOX5AP), transcript variant 2, mRNA.	33					cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		AGTGGAGCACGAAAGCAGGAC	0.498000														56			7		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102645	22102645	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22102645G>A	uc010tmc.2	-	0	354	c.354C>T	c.(352-354)ttC>ttT	p.F118F		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGGTGTAGAGGAAGCACTGGG	0.502000														22			10		0	0	1	0	0
CCDC50	152137	broad.mit.edu	37	3	191107287	191107287	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:191107287C>T	uc003fsv.3	+	10	1915	c.1325C>T	c.(1324-1326)cCa>cTa	p.P442L	CCDC50_uc003fsw.3_Missense_Mutation_p.P266L	NM_178335	NP_848018	Q8IVM0	CCD50_HUMAN	Homo sapiens coiled-coil domain containing 50 (CCDC50), transcript variant 2, mRNA.	266						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		CCTTTTAGGCCACCACCACCT	0.418000														148			65		0	0	1	0	0
KRBA2	124751	broad.mit.edu	37	17	8272584	8272584	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:8272584G>A	uc002glf.1	-	1	1353	c.1347C>T	c.(1345-1347)agC>agT	p.S449S	KRBA2_uc002glg.1_Silent_p.S366S	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	Homo sapiens KRAB-A domain containing 2 (KRBA2), mRNA.	449					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TGATCCAAAGGCTATTTTCTA	0.468000														84			56		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14812856	14812856	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14812856G>A	uc003zlm.3	-	16	3663	c.2847C>T	c.(2845-2847)ttC>ttT	p.F949F	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	949					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTCTCTGAGAGAACTGATCCA	0.498000														172			25		0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799148	133799149	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:133799148_133799149CC>TT	uc004bzz.3	-	3	1076_1077	c.831_832GG>AA	c.(829-834)acggac>acAAac	p.D278N	FIBCD1_uc011mcc.2_Missense_Mutation_p.D278N	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	278	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CCGCCGCCGTCCGTGCGCATGT	0.673000														25			8		0	0	1	0	0
TRIM7	81786	broad.mit.edu	37	5	180625718	180625718	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:180625718G>T	uc003mmz.1	-	4	1027	c.960C>A	c.(958-960)gtC>gtA	p.V320V	TRIM7_uc003mmv.1_Silent_p.V138V|TRIM7_uc003mmw.1_Silent_p.V112V|TRIM7_uc003mmy.1_Silent_p.V112V|TRIM7_uc003mmx.1_Silent_p.V112V	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	320						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TCCCTTTTAAGACAAAGGTCT	0.537000														53			12		6.72482e-11	6.74907e-11	1	1	0
GTF3C6	112495	broad.mit.edu	37	6	111283616	111283616	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:111283616A>T	uc003pum.3	+	4	479	c.269A>T	c.(268-270)aAa>aTa	p.K90I		NM_138408	NP_612417	Q969F1	TF3C6_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 6, alpha 35kDa (GTF3C6), mRNA.	90						transcription factor TFIIIC complex	DNA binding|protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		GGCAATAATAAAACAGTGCTA	0.348000														16			12		0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115829395	115829395	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:115829395G>A	uc021osd.1	-	0	22	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	NGF_uc001efu.1_Silent_p.L8L	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	8					Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GCTGTGATCAGAGTGTAGAAC	0.478000														80			34		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175048543	175048543	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175048543G>A	uc001gkl.1	+	2	597	c.484G>A	c.(484-486)Gag>Aag	p.E162K	TNN_uc010pmx.1_Missense_Mutation_p.E162K	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	162					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAGGGCAGGGAGGGCCCCGC	0.711000														7			15		0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123267179	123267179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:123267179C>T	uc003vku.1	+	8	1005	c.713C>T	c.(712-714)gCt>gTt	p.A238V	ASB15_uc003vkv.1_Missense_Mutation_p.A238V|ASB15_uc003vkw.1_Missense_Mutation_p.A238V	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	238					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GATGTGCTTGCTTTGGCGGAT	0.507000														107			20		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172766859	172766859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:172766859C>T	uc003fin.4	-	2	822	c.638G>A	c.(637-639)gGa>gAa	p.G213E		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	213					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AAATGGTTCTCCCAGAACTGC	0.348000														38			12		0	0	1	0	0
CLDN6	9074	broad.mit.edu	37	16	3065728	3065728	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3065728G>A	uc021tbb.1	-	0	295	c.295C>T	c.(295-297)Ctt>Ttt	p.L99F	CLDN6_uc002csu.4_Missense_Mutation_p.L99F	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	99					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GCCCCAGCAAGGTAGACCAGC	0.612000														45			16		0	0	1	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238552	71238552	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:71238552C>T	uc001oqq.1	+	0	240	c.206C>T	c.(205-207)tCc>tTc	p.S69F		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	Homo sapiens keratin associated protein 5-7 (KRTAP5-7), mRNA.	69	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GGCTGTGGCTCCTGTGGGGGC	0.652000														254			57		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40710658	40710658	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:40710658C>T	uc002xkg.3	-	30	4321	c.4137_splice	c.e30-1	p.L1379_splice	PTPRT_uc010ggj.3_Splice_Site_p.L1398_splice|PTPRT_uc010ggi.3_Splice_Site_p.L582_splice	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1379	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCCCCCATTTCTAAACACAGA	0.498000														75			20		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84607827	84607827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:84607827G>A	uc004amn.3	+	3	2489	c.2442G>A	c.(2440-2442)ggG>ggA	p.G814G		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	814						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						ATCTGTCAGGGAATGACTCAG	0.453000														42			24		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71891540	71891540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71891540C>T	uc010fen.3	+	45	5287	c.5146C>T	c.(5146-5148)Cgc>Tgc	p.R1716C	DYSF_uc010fei.3_Missense_Mutation_p.R1694C|DYSF_uc010feh.3_Missense_Mutation_p.R1684C|DYSF_uc002sig.4_Missense_Mutation_p.R1663C|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R1708C|DYSF_uc010fee.3_Missense_Mutation_p.R1698C|DYSF_uc010fef.3_Missense_Mutation_p.R1715C|DYSF_uc002sie.3_Missense_Mutation_p.R1677C|DYSF_uc010feo.3_Missense_Mutation_p.R1709C|DYSF_uc010fej.3_Missense_Mutation_p.R1685C|DYSF_uc010fel.3_Missense_Mutation_p.R1664C|DYSF_uc010fem.3_Missense_Mutation_p.R1699C|DYSF_uc002sif.3_Missense_Mutation_p.R1678C|DYSF_uc010fek.3_Missense_Mutation_p.R1695C|DYSF_uc010yqy.2_Missense_Mutation_p.R558C|DYSF_uc010yqz.2_Missense_Mutation_p.R438C	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1677						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTTTGGGGCTCGCTGTGGACT	0.552000														45			22		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65264525	65264525	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:65264525G>A	uc001xht.3	-	8	1155	c.1104C>T	c.(1102-1104)acC>acT	p.T368T	SPTB_uc001xhr.3_Silent_p.T368T|SPTB_uc001xhs.3_Silent_p.T368T|SPTB_uc001xhu.3_Silent_p.T368T	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	368					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGGACTGGATGGTAAAAAGTA	0.428000														129			14		0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57313798	57313798	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57313798G>A	uc021qjh.1	+	4	1168	c.1166G>A	c.(1165-1167)cGa>cAa	p.R389Q		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	389										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GAGTGGTGCCGAGCCATGACA	0.622000														16			5		0	0	1	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800531	74800531	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:74800531G>A	uc010rro.2	-	0	228	c.228C>T	c.(226-228)atC>atT	p.I76I		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	76					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						TGGTGAAAAGGATGTCCAAGG	0.527000														43			16		0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890739	55890739	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55890739G>A	uc001nii.1	+	0	891	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ACAGAGAAGTGAAAAATGCTC	0.363000														126			63		0	0	1	0	0
PCDHB17	54661	broad.mit.edu	37	5	140536603	140536603	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140536603G>A	uc003lis.3	+	0	1024	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N						Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA.																		GGATATAAACGACAACGCACC	0.448000														6			4		0	0	1	0	0
CYB561D1	284613	broad.mit.edu	37	1	110038505	110038505	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110038505C>T	uc010ovo.2	+	2	441	c.380C>T	c.(379-381)gCt>gTt	p.A127V	CYB561D1_uc010ovl.2_Missense_Mutation_p.A48V|CYB561D1_uc010ovm.2_Missense_Mutation_p.A47V|CYB561D1_uc001dxu.3_3'UTR|CYB561D1_uc001dxw.3_3'UTR|CYB561D1_uc010ovn.2_Missense_Mutation_p.A105V|CYB561D1_uc009wfd.3_Missense_Mutation_p.A54V|CYB561D1_uc010ovp.2_Missense_Mutation_p.A39V	NM_001134400	NP_001127872	Q8N8Q1	C56D1_HUMAN	Homo sapiens cytochrome b-561 domain containing 1 (CYB561D1), transcript variant 1, mRNA.	105	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CTCTGTGCAGCTCTGGGCCTG	0.612000														131			57		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11718434	11718434	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:11718434C>T	uc002rbk.1	+	5	949	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	GREB1_uc002rbl.3_Missense_Mutation_p.R217W|GREB1_uc002rbm.3_Missense_Mutation_p.R107W|GREB1_uc002rbn.1_Missense_Mutation_p.R217W	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	217						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GTTTAGAAGCCGGCAGATCCC	0.577000														131			79		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166221716	166221716	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166221716G>A	uc002udc.3	+	17	3753	c.3463G>A	c.(3463-3465)Gaa>Aaa	p.E1155K	SCN2A_uc002udd.3_Missense_Mutation_p.E1155K|SCN2A_uc002ude.3_Missense_Mutation_p.E1155K	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1155					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CGCCGAGGGAGAACAGCCTGA	0.413000														77			23		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149477866	149477866	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149477866G>A	uc010lpk.3	+	13	1638	c.1638_splice	c.e13-1	p.C546_splice	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	546					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGTGCCCACAGCGTGTGCAGG	0.657000														10			5		0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887209	47887209	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:47887209G>A	uc002xui.3	-	2	1387	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	380							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAGGTCTGACGAAATCTTCTC	0.468000														83			40		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31302378	31302378	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:31302378C>T	uc003jhe.2	+	5	1332	c.972C>T	c.(970-972)acC>acT	p.T324T	CDH6_uc003jhd.2_Silent_p.T324T	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	324	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACCAGGAAACCCAGGAAGGGA	0.463000														50			18		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76427474	76427474	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:76427474G>A	uc021rkq.1	+	27	4946	c.4611G>A	c.(4609-4611)ccG>ccA	p.P1537P	LMO7_uc010thv.2_Silent_p.P1255P|LMO7_uc001vjv.3_Silent_p.P1304P|LMO7_uc010thw.2_Silent_p.P1181P	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1589						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CCCCCACCCCGAGAAGCCATT	0.577000														72			17		0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121107018	121107018	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:121107018C>T	uc002tmn.2	+	1	838	c.792C>T	c.(790-792)ttC>ttT	p.F264F		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	264					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TGCCGGTGTTCGTGGACCCAG	0.667000														91			37		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514953	233514953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233514953C>T	uc001hvt.4	+	8	2462	c.2201C>T	c.(2200-2202)gCt>gTt	p.A734V	KIAA1804_uc001hvu.4_Missense_Mutation_p.A180V	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	734					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GCATCGGTGGCTCTGGGACTG	0.527000														70			25		0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89256747	89256747	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89256747C>T	uc002fmt.3	+	7	1152	c.1075C>T	c.(1075-1077)Cag>Tag	p.Q359*		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	359	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TGAGCGGGGCCAGGCCAAGGT	0.647000														20			9		0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045526	142045526	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142045526C>T	uc003vxp.4	+	1	163	c.54C>T	c.(52-54)ccC>ccT	p.P18P	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CCGCAGTCCCCATGGAAACGG	0.478000														150			45		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701045	192701045	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:192701045G>A	uc002utb.3	-	1	1237	c.882C>T	c.(880-882)ccC>ccT	p.P294P		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	294						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CGAAAGTGAGGGGAGAAACCT	0.473000														180			61		0	0	1	0	0
FBXO9	26268	broad.mit.edu	37	6	52962573	52962573	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:52962573C>T	uc021zas.1	+	11	1340	c.1289C>T	c.(1288-1290)cCc>cTc	p.P430L	FBXO9_uc021zao.1_Missense_Mutation_p.P310L|FBXO9_uc021zap.1_Missense_Mutation_p.P310L|FBXO9_uc021zaq.1_Missense_Mutation_p.P420L|FBXO9_uc021zar.1_Missense_Mutation_p.P310L	NM_012347	NP_036479	Q9UK97	FBX9_HUMAN	Homo sapiens F-box protein 9 (FBXO9), transcript variant 1, mRNA.	430						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					ATGTACACCCCCTTGTTCTTC	0.403000														26			7		0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112357	248112357	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248112357C>T	uc001idt.1	+	0	198	c.198C>T	c.(196-198)tcC>tcT	p.S66S	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTCAGCTCTCCCTCATTGACC	0.438000														391			129		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57963926	57963926	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57963926A>T	uc001sor.1	+	11	1482	c.1274A>T	c.(1273-1275)tAt>tTt	p.Y425F	KIF5A_uc010srr.1_Missense_Mutation_p.Y336F	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	425					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CGCCGTCTCTATAAGCAGCTT	0.572000														16			7		0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182497	100182497	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:100182497G>A	uc001ygo.3	+	8	868	c.868G>A	c.(868-870)Gag>Aag	p.E290K	CYP46A1_uc001ygp.3_Missense_Mutation_p.E137K	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	290					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	p.D289N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CCAGGACGACGAGGGTCTGCT	0.522000														89			21		0	0	1	0	0
MYCL1	4610	broad.mit.edu	37	1	40363568	40363568	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:40363568C>T	uc001cer.2	-	2	788	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	MYCL1_uc001ces.2_Missense_Mutation_p.V191M	NM_001033082	NP_001028253	P12524	MYCL1_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian) (MYCL1), transcript variant 2, mRNA.	191						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			liver(1)|lung(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCTGCTCGCACCGTGATGGTG	0.502000			A		small cell lung									91			22		0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179544834	179544834	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179544834C>T	uc001gmq.4	-	0	251	c.166G>A	c.(166-168)Gag>Aag	p.E56K	NPHS2_uc009wxi.3_Missense_Mutation_p.E56K	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	56					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GCTCGGGGCTCCCCCGGGGTC	0.771000														8			8		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134896090	134896090	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:134896090G>A	uc001llw.3	+	5	1176	c.1176G>A	c.(1174-1176)agG>agA	p.R392R				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ACTTGGGGAGGGGAGGCCTTT	0.587000														26			6		0	0	1	0	0
ST7L	54879	broad.mit.edu	37	1	113084621	113084621	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:113084621G>A	uc001ecd.3	-	13	1886	c.1581C>T	c.(1579-1581)gcC>gcT	p.A527A	ST7L_uc009wgh.3_Non-coding_Transcript|ST7L_uc001ecc.3_Silent_p.A344A|ST7L_uc010owg.2_Silent_p.A462A|ST7L_uc010owh.2_Silent_p.A321A|ST7L_uc001ecf.3_Silent_p.A510A|ST7L_uc001ece.3_Silent_p.A496A|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_Silent_p.A462A|ST7L_uc001ech.3_Silent_p.A510A|ST7L_uc001eci.3_Silent_p.A527A|ST7L_uc009wgi.1_Non-coding_Transcript	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA.	527					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTGAGAATGGCTATCATTG	0.378000														69			22		0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43473424	43473424	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:43473424G>A	uc002iix.3	-	14	1737	c.1288C>T	c.(1288-1290)Ctg>Ttg	p.L430L	ARHGAP27_uc010dak.3_Silent_p.L403L	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA.	771	WW 3.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					AAGAGCTTCAGGGCTCCGGTG	0.632000														38			6		0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71499399	71499399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:71499399G>A	uc003xyo.2	-	6	843	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	TRAM1_uc011lfc.2_Missense_Mutation_p.R164C	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Homo sapiens translocation associated membrane protein 1 (TRAM1), mRNA.	195	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			ACAAGCTGACGAGGAATATCT	0.398000														54			20		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234621899	234621899	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234621899G>A	uc002vuw.3	+	0	262	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Missense_Mutation_p.E88K	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	87					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GACCCAGGACGAATTTGATCG	0.428000														113			53		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562977	145562977	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:145562977G>A	uc001eob.1	+	9	2773	c.2665G>A	c.(2665-2667)Gcc>Acc	p.A889T	ANKRD35_uc010oyx.1_Missense_Mutation_p.A732T	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	889										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGCTCAGGCAGCCGAACAAGA	0.647000														38			15		0	0	1	0	0
TNNT1	7138	broad.mit.edu	37	19	55652271	55652271	+	Missense_Mutation	SNP	C	T	T	rs150477069		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55652271C>T	uc002qjb.4	-	8	456	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	TNNT1_uc002qjc.4_Missense_Mutation_p.E123K|TNNT1_uc002qje.4_Missense_Mutation_p.E112K|TNNT1_uc002qjd.4_Missense_Mutation_p.E112K|TNNT1_uc002qjf.2_Missense_Mutation_p.E119K	NM_003283	NP_003274	P13805	TNNT1_HUMAN	Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.	123					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GCCTGACGTTCGCGTTCCTTC	0.552000														50			39		0	0	1	0	0
FFAR2	2867	broad.mit.edu	37	19	35940700	35940700	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35940700C>T	uc002nzg.2	+	1	164	c.84C>T	c.(82-84)gcC>gcT	p.A28A	FFAR2_uc010eea.3_Silent_p.A28A	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	28						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCTCCTGGCCCTGCGGGCCT	0.632000														79			14		0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12856867	12856867	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:12856867G>A	uc003bxk.2	+	7	1283	c.1234G>A	c.(1234-1236)Gga>Aga	p.G412R	CAND2_uc003bxj.2_Missense_Mutation_p.G319R	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	412					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCCCCGAAGGGATGGCTGGA	0.612000														62			23		0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77951244	77951244	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:77951244G>A	uc001xtz.3	-	1	234	c.160C>T	c.(160-162)Cct>Tct	p.P54S	ISM2_uc001xua.3_Missense_Mutation_p.P54S|ISM2_uc001xty.3_5'UTR	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	54						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						AGAGGCCTAGGATCTGGGGAG	0.607000														73			7		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940669	113940669	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113940669G>A	uc002tjc.3	+	1	819	c.636G>A	c.(634-636)ggG>ggA	p.G212G	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.G211G|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	212					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.G212V(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGACTCAGGGGAAGACAGCA	0.637000														35			8		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110448612	110448612	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110448612C>T	uc003yne.3	+	29	3655	c.3551C>T	c.(3550-3552)tCa>tTa	p.S1184L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1184	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S1186L(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)			AATGAAAATTCAAAGGTATTA	0.348000										HNSCC(38;0.096)				51			21		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15065098	15065098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15065098G>A	uc002naa.1	-	6	1220	c.1213C>T	c.(1213-1215)Ctg>Ttg	p.L405L	SLC1A6_uc010dzu.1_Silent_p.L327L|SLC1A6_uc010xod.1_Silent_p.L341L	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	405					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TCCACACCCAGGCCCTCCTCC	0.687000														60			33		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61559014	61559014	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61559014G>A	uc002jau.2	+	6	1067	c.1033G>A	c.(1033-1035)Ggg>Agg	p.G345R	ACE_uc010wpi.2_Missense_Mutation_p.G345R|ACE_uc010ddu.2_Missense_Mutation_p.G162R	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	345	Peptidase M2 1.				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)	GTTCTGGGAAGGGTCGATGCT	0.622000														50			34		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46312191	46312191	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:46312191G>A	uc011bzc.1	-	5	806	c.394_splice	c.e5+1	p.Y132_splice	GABRA2_uc003gxc.3_Splice_Site_p.Y187_splice|GABRA2_uc010igc.2_Splice_Site_p.Y187_splice|GABRA2_uc003gxe.3_Splice_Site_p.Y187_splice			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	187					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTACTTACAGCTGCCAAATT	0.393000														93			7		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124117644	124117644	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124117644G>A	uc003ehg.3	+	12	2393	c.2266G>A	c.(2266-2268)Gag>Aag	p.E756K	KALRN_uc010hrv.1_Missense_Mutation_p.E756K|KALRN_uc003ehf.1_Missense_Mutation_p.E756K|KALRN_uc011bjy.1_Missense_Mutation_p.E756K|KALRN_uc003ehh.1_Missense_Mutation_p.E102K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	756					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCAGATGGAGGAGCTGTTCCA	0.582000														86			33		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55284800	55284800	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55284800C>T	uc010erz.1	+	2	124	c.86C>T	c.(85-87)cCt>cTt	p.P29L	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.P29L	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	29					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CACAGAAAACCTTCCCTCCTG	0.507000														121			13		0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245220	46245220	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46245220C>T	uc003cph.1	-	1	656	c.585G>A	c.(583-585)tgG>tgA	p.W195*	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Nonsense_Mutation_p.W195*	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	195					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAAACAGCTTCCACTCTCGTA	0.468000														73			36		0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121434128	121434128	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:121434128C>T	uc001tzg.3	+	4	1042	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.P340L|HNF1A_uc001tzf.3_Missense_Mutation_p.P340L|HNF1A_uc010szn.2_Missense_Mutation_p.P340L|HNF1A_uc021rfa.1_Missense_Mutation_p.P340L|HNF1A_uc021rfb.1_Missense_Mutation_p.P212L|HNF1A_uc021rfc.1_Intron	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	340					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCGGCGGTCCCTTAGTGACA	0.617000									Hepatic Adenoma, Familial Clustering of					114			43		0	0	1	0	0
CIDEA	1149	broad.mit.edu	37	18	12277269	12277269	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:12277269G>A	uc002kqt.4	+	4	725	c.660G>A	c.(658-660)taG>taA	p.*220*	CIDEA_uc002kqu.4_Silent_p.*254*|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	0					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						CGTGTGGATAGGGATGCAGGC	0.527000														29			25		0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22974279	22974279	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:22974279C>T	uc003xcy.3	+	4	823	c.515C>T	c.(514-516)cCg>cTg	p.P172L	TNFRSF10C_uc011kzr.2_Non-coding_Transcript	NM_003841	NP_003832	O14798	TR10C_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA.	172					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		AACACCAGCCCGGGGACTCCT	0.562000														143			14		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154625688	154625688	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:154625688C>T	uc003inq.3	+	2	1848	c.1629C>T	c.(1627-1629)tcC>tcT	p.S543S	TLR2_uc003inr.3_Silent_p.S543S|TLR2_uc003ins.3_Silent_p.S543S|TLR2_uc021xtl.1_Silent_p.S543S	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	543					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				AATTCCTCTCCTTCACTCAGG	0.473000														37			22		0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974674	49974674	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:49974674G>A	uc010rhz.2	+	0	732	c.700G>A	c.(700-702)Gcc>Acc	p.A234T		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AAGGCACGAAGCCCTCTCTAC	0.468000														72			57		0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171911	68171911	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:68171911C>T	uc010dfg.3	+	1	1132	c.731C>T	c.(730-732)cCt>cTt	p.P244L	KCNJ2_uc002jir.3_Missense_Mutation_p.P244L|KCNJ2_uc021ucj.1_Missense_Mutation_p.P244L	NM_000891	NP_000882	P63252	IRK2_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 2 (KCNJ2), mRNA.	244					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GAGTATATCCCTCTGGATCAA	0.443000														70			24		0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634324	180634324	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:180634324G>A	uc002unn.4	-	2	763	c.159C>T	c.(157-159)tcC>tcT	p.S53S		NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	53						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			ATTTGCCGTTGGAATGCACCT	0.562000														65			19		0	0	1	0	0
LAPTM4B	55353	broad.mit.edu	37	8	98837319	98837319	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:98837319C>T	uc003yia.3	+	5	970	c.814C>T	c.(814-816)Cga>Tga	p.R272*	LAPTM4B_uc010mbg.3_Intron	NM_018407	NP_060877	Q86VI4	LAP4B_HUMAN	Homo sapiens lysosomal protein transmembrane 4 beta (LAPTM4B), mRNA.	325					transport	endomembrane system|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			GAACTGCTACCGATACATCAA	0.403000														88			9		0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169663986	169663986	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:169663986C>T	uc011bpp.2	-	1		c.3817G>A								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		CATACAAAGCCCTCGGCATGC	0.498000														110			9		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10435073	10435073	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10435073C>T	uc010coi.3	-	21	2702	c.2574G>A	c.(2572-2574)atG>atA	p.M858I	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.M858I|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	858					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATTCTTCCTTCATGGTGGCCA	0.423000														51			39		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64483905	64483905	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:64483905C>T	uc003jtp.3	-	21	3662	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	950	TSP type-1 3.				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)		GGCTCTTTTTCGACAGGCCGG	0.507000														135			52		0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58148147	58148147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:58148147C>T	uc002iyk.1	-	5	738	c.721G>A	c.(721-723)Ggt>Agt	p.G241S	HEATR6_uc010wos.1_Missense_Mutation_p.G73S	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	241							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GACTGTATACCTTTTAATGCA	0.403000														65			25		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921522	24921522	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24921522G>A	uc001ywo.3	+	0	982	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	170					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)		GGTGCAGATCGAAGGGGAGGA	0.617000														33			15		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677847	3677847	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3677847G>A	uc002wja.3	-	8	2265	c.2265C>T	c.(2263-2265)ccC>ccT	p.P755P	SIGLEC1_uc002wiz.4_Silent_p.P755P	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	755	Ig-like C2-type 7.				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						CGGTCTCCAGGGGACCCTGGG	0.632000														58			24		0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4944978	4944978	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4944978G>A	uc010qyr.2	-	0	592	c.592C>T	c.(592-594)Cac>Tac	p.H198Y		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATAGATGTGATTGACAATG	0.532000														94			7		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594271	123594271	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:123594271G>A	uc003vle.3	+	2	1086	c.647G>A	c.(646-648)tGg>tAg	p.W216*	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Nonsense_Mutation_p.W216*|SPAM1_uc022aks.1_Nonsense_Mutation_p.W216*|SPAM1_uc003vlf.4_Nonsense_Mutation_p.W216*|SPAM1_uc010lku.3_Nonsense_Mutation_p.W216*	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	216					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	p.W216C(1)		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)	AATCACTTGTGGGGTTATTAT	0.373000														104			34		0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121356074	121356074	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121356074C>T	uc003eeh.4	-	6	609	c.484G>A	c.(484-486)Ggg>Agg	p.G162R	HCLS1_uc011bjj.2_Intron|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	162					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	p.Y161Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TTCTCCACCCCGTACCGGCCA	0.557000														100			32		0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55907804	55907804	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:55907804C>T	uc021tir.1	-	2	452	c.306G>A	c.(304-306)acG>acA	p.T102T	CES5A_uc002eip.2_Silent_p.T73T|CES5A_uc002eio.2_Silent_p.T73T|CES5A_uc002eiq.2_5'UTR|CES5A_uc002eir.2_5'UTR	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	73						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GCTGCGGGTTCGTAAATCGCA	0.592000														14			8		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42474456	42474456	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42474456G>A	uc002osh.3	-	17	2577	c.2423C>T	c.(2422-2424)cCt>cTt	p.P808L	ATP1A3_uc010xwf.2_Missense_Mutation_p.P819L|ATP1A3_uc010xwg.2_Missense_Mutation_p.P778L|ATP1A3_uc002osg.3_Missense_Mutation_p.P808L|ATP1A3_uc010xwh.2_Missense_Mutation_p.P821L			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	808					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGAGATGGCAGGGACCTAGGC	0.632000														36			15		0	0	1	0	0
NF1P2	440225	broad.mit.edu	37	15	22143278	22143278	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22143278C>T	uc010tzs.1	-	3		c.309_splice	c.e3-1		abParts_uc001yuj.2_Intron					Homo sapiens neurofibromin 1 pseudogene 2 (NF1P2), non-coding RNA.																		GCCAGTTCATCCTGAGAACAA	0.383000														56			7		0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205498689	205498689	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205498689C>T	uc001hcr.3	+	12	1571	c.1309C>T	c.(1309-1311)Ctg>Ttg	p.L437L	CDK18_uc001hcp.3_Silent_p.L407L|CDK18_uc001hcq.3_Silent_p.L407L|CDK18_uc010prj.2_Silent_p.L318L|CDK18_uc001hcs.3_Silent_p.L318L|CDK18_uc009xbm.1_Silent_p.L332L	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	405							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CAGCCTGCTCCTGGTGAGTGT	0.667000														44			12		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10713796	10713796	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:10713796G>A	uc001aro.3	-	10	2638	c.2318C>T	c.(2317-2319)tCg>tTg	p.S773L	CASZ1_uc001arp.1_Missense_Mutation_p.S773L|CASZ1_uc009vmx.2_Missense_Mutation_p.S797L	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	773					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CAGCAGCCCCGAGATCTTGCT	0.701000														39			19		0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961116	1961116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:1961116G>A	uc010gaj.3	-	2	860	c.618C>T	c.(616-618)cgC>cgT	p.R206R	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Silent_p.R206R|PDYN_uc021vzt.1_Silent_p.R206R|PDYN_uc021vzu.1_Silent_p.R206R|PDYN_uc002wfv.3_Silent_p.R206R	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	206					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.R206H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCCCCCATAGCGTTTGTACA	0.592000														138			53		0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7509157	7509157	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7509157C>T	uc002mgi.3	+	3	1117	c.864C>T	c.(862-864)gcC>gcT	p.A288A	ARHGEF18_uc010xjm.1_Silent_p.A130A|ARHGEF18_uc002mgh.3_Silent_p.A130A|ARHGEF18_uc002mgj.1_5'Flank	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	288	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				ACTCCAGGGCCCTGCAGGAGG	0.617000														51			19		0	0	1	0	0
GREM1	26585	broad.mit.edu	37	15	33023078	33023078	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:33023078G>A	uc001zhe.2	+	1	346	c.187G>A	c.(187-189)Ggg>Agg	p.G63R	GREM1_uc010uby.2_Intron|GREM1_uc001zhd.2_Intron|GREM1_uc021sio.1_Missense_Mutation_p.G63R	NM_013372	NP_037504	O60565	GREM1_HUMAN	Homo sapiens gremlin 1 (GREM1), transcript variant 1, mRNA.	63					negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity	p.Q62H(1)		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)		GCGGGGCCAAGGGCGGGGCAC	0.662000														49			11		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487353	63487353	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63487353C>T	uc001nxq.3	+	2	1566	c.1379C>T	c.(1378-1380)tCt>tTt	p.S460F	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Missense_Mutation_p.S348F|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.S441F|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	460					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAATGTGACTCTTTGGGTTCT	0.448000														89			37		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168265363	168265363	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:168265363C>T	uc021zik.1	+	1	431	c.112C>T	c.(112-114)Cga>Tga	p.R38*	MLLT4_uc003qwb.1_Nonsense_Mutation_p.R80*|MLLT4_uc003qwc.2_Nonsense_Mutation_p.R80*|MLLT4_uc021zij.1_Nonsense_Mutation_p.R80*|MLLT4_uc021zil.1_Non-coding_Transcript	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	80					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GGAGAAATTTCGACCTGATAT	0.453000			T	MLL	AL									114			100		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23896011	23896011	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23896011G>A	uc001wjx.3	-	17	2125	c.2019C>T	c.(2017-2019)atC>atT	p.I673I		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	673	Actin-binding.|Myosin head-like.			CII -> LYH (in Ref. 2; CAA37068).	adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATTAGGGATGATACAACGTA	0.493000														52			19		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66190265	66190265	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66190265G>A	uc001ohx.1	+	3	727	c.551G>A	c.(550-552)gGa>gAa	p.G184E	NPAS4_uc010rpc.1_Missense_Mutation_p.E11K	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	184					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						TACTGGGCAGGAAATCCCGTG	0.622000														92			41		0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086338	56086338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56086338C>T	uc010rjf.2	+	0	556	c.556C>T	c.(556-558)Cct>Tct	p.P186S		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CCCTTTGTTACCTTTGCTTTG	0.328000														98			7		0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113588364	113588364	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:113588364C>T	uc003eaq.4	+	2	261	c.185C>T	c.(184-186)tCc>tTc	p.S62F	GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc011bim.1_Non-coding_Transcript	NM_017577	NP_001165576	Q8IYS0	GRM1C_HUMAN	Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA.	62						integral to membrane		p.S61G(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ATTTCAAGTTCCACCTATAAA	0.303000														88			34		0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2900696	2900696	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:2900696G>A	uc003mug.3	-	1	271	c.150C>T	c.(148-150)acC>acT	p.T50T	AY927512_uc003mue.3_Intron|SERPINB9_uc003muh.3_Silent_p.T50T	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	50					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TCTGGGTTGCGGTGTTTCCCT	0.582000														130			67		0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89733119	89733119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:89733119C>T	uc001dnc.3	-	4	946	c.409G>A	c.(409-411)Ggt>Agt	p.G137S	GBP5_uc001dnd.3_Missense_Mutation_p.G137S|GBP5_uc001dne.1_Missense_Mutation_p.G137S	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	137						plasma membrane	GTP binding|GTPase activity	p.G137A(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TCGATAGCACCCTGATCAATT	0.453000														45			19		0	0	1	0	0
MBL1P	8512	broad.mit.edu	37	10	81680793	81680793	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81680793G>A	uc021puw.1	+	3		c.636G>A			MBL1P_uc001kbg.1_Non-coding_Transcript					Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) pseudogene (LOC100288974), non-coding RNA.																		CAGGACCTAGGGGCCAAAAAG	0.602000														10			6		0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80203349	80203349	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:80203349C>T	uc003piy.3	-	4	1451	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	LCA5_uc003pix.3_Missense_Mutation_p.R280Q	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	280					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GTGATATAGTCGCTGTACCTC	0.308000														27			19		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073116	17073116	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17073116C>T	uc002zlp.1	-	0	585	c.325G>A	c.(325-327)Gtt>Att	p.V109I		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	109					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.V108M(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTCAGCAGAACCACGAAGGCT	0.657000														64			19		0	0	1	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420413	69420413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:69420413G>A	uc004afn.3	+	12	1415	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K		NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A4 (ANKRD20A4), mRNA.	435										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GAAGCTGAAGGAAGAGCATGA	0.358000														192			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348807	140348807	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140348807C>T	uc003lii.3	+	0	3061	c.2456C>T	c.(2455-2457)cCt>cTt	p.P819L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.P819L	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	819					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)			GGACCAGGGCCTTCGGGAGCC	0.522000														57			15		0	0	1	0	0
APOL6	80830	broad.mit.edu	37	22	36055574	36055574	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:36055574G>A	uc003aoe.3	+	2	1257	c.963G>A	c.(961-963)agG>agA	p.R321R	APOL6_uc003aod.3_Non-coding_Transcript	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	Homo sapiens apolipoprotein L, 6 (APOL6), mRNA.	321					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						AGGAGTTAAGGGAGCATGTGT	0.507000														58			10		0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169108548	169108548	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169108548T>G	uc003irm.3	+	11	1102	c.938T>G	c.(937-939)cTg>cGg	p.L313R	ANXA10_uc003irn.3_Missense_Mutation_p.L185R	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	313							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AAGAAAGCACTGCTTGCCATC	0.338000														57			17		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29587275	29587275	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:29587275A>T	uc001bru.3	+	6	1133	c.1004A>T	c.(1003-1005)cAc>cTc	p.H335L	PTPRU_uc009vtq.3_Missense_Mutation_p.H335L|PTPRU_uc009vtr.3_Missense_Mutation_p.H335L|PTPRU_uc001brw.3_Missense_Mutation_p.H335L	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	335	Fibronectin type-III 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCTGAGGTGCACGCCGTCAGC	0.642000														44			24		0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118986957	118986957	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118986957C>T	uc001pvn.3	+	13	2474	c.2115C>T	c.(2113-2115)ccC>ccT	p.P705P	C2CD2L_uc001pvo.3_Silent_p.P704P	NM_014807	NP_055622	O14523	C2C2L_HUMAN	Homo sapiens C2CD2-like (C2CD2L), mRNA.	704						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						ACCCCAGCCCCCAGCTCTGAG	0.597000														50			14		0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123285917	123285917	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:123285917C>T	uc001udc.3	+	8	1386	c.1224C>T	c.(1222-1224)aaC>aaT	p.N408N	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Silent_p.N169N|CCDC62_uc021rfn.1_Silent_p.N223N	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	408						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AGAAACACAACCTCCCTTGGT	0.413000														40			9		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36130328	36130328	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:36130328G>A	uc003gsq.2	-	20	3805	c.3467C>T	c.(3466-3468)cCt>cTt	p.P1156L		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1156	Rho-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						TATATGCAAAGGATCACCATT	0.328000														55			16		0	0	1	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671667	112671667	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:112671667G>A	uc003pvx.1	+	2	1069	c.757G>A	c.(757-759)Ggg>Agg	p.G253R	RFPL4B_uc021zdy.1_Missense_Mutation_p.G253R	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	Homo sapiens ret finger protein-like 4B (RFPL4B), mRNA.	253	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CTTGGGAGAAGGGGAGAGTGG	0.448000														44			18		0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51696586	51696586	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51696586G>A	uc002aba.3	+	9	1460	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	GLDN_uc002abb.3_Missense_Mutation_p.E307K	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	431	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AGCTGTAGATGAAAAGGGCCT	0.418000														153			60		0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43716295	43716295	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43716295C>T	uc011aev.2	+	14	1937	c.1863C>T	c.(1861-1863)atC>atT	p.I621I	ABCG1_uc002zam.3_Silent_p.I576I|ABCG1_uc002zan.3_Silent_p.I600I|ABCG1_uc002zao.3_Silent_p.I595I|ABCG1_uc002zap.3_Silent_p.I598I|ABCG1_uc002zaq.3_Silent_p.I610I|ABCG1_uc002zar.3_Silent_p.I609I|AL355711_uc002zau.3_5'Flank	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	610	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	AAGGGGTCATCCTCTCCATCT	0.592000														55			24		0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28598868	28598868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:28598868C>T	uc001bps.3	+	3	824	c.428C>T	c.(427-429)cCt>cTt	p.P143L		NM_031459	NP_113647	P58004	SESN2_HUMAN	Homo sapiens sestrin 2 (SESN2), mRNA.	143					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGTGACCCTGAGTGGCTG	0.622000														128			21		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9018484	9018484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9018484G>A	uc002mkp.3	-	23	37894	c.37690C>T	c.(37690-37692)Cct>Tct	p.P12564S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12566	SEA 4.				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						CTGGAGCCAGGGCGATGCATG	0.542000														151			49		0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927463	55927463	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55927463C>T	uc010rja.2	-	0	331	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATGAAAAATTCACTGATAATG	0.418000														117			12		0	0	1	0	0
SYNGR3	9143	broad.mit.edu	37	16	2042728	2042728	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2042728G>A	uc002cod.3	+	2	587	c.429G>A	c.(427-429)ggG>ggA	p.G143G	TCRBV20S1_uc021tak.1_Intron	NM_004209	NP_004200	O43761	SNG3_HUMAN	Homo sapiens synaptogyrin 3 (SYNGR3), mRNA.	143	MARVEL.				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle				endometrium(1)|lung(2)	3						CGCAGGCGGGGGACGCGGCGC	0.716000														7			7		0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682678	140682678	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140682678G>A	uc003ljf.3	-	0	935	c.755C>T	c.(754-756)aCc>aTc	p.T252I		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	252					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	ACTTAAGAGGGTACCAATAAA	0.428000														48			17		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176992706	176992706	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176992706C>T	uc001glc.3	-	7	1483	c.1271_splice	c.e7-1	p.G424_splice	ASTN1_uc001glb.1_Splice_Site_p.G424_splice|ASTN1_uc001gld.1_Splice_Site_p.G424_splice|ASTN1_uc009wwx.1_Splice_Site_p.G424_splice|ASTN1_uc001gle.4_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	424					cell migration|neuron cell-cell adhesion	integral to membrane		p.G424G(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGAAGCGGCTCCCTGCAGGGT	0.552000														26			5		0	0	1	0	0
HOXB13	10481	broad.mit.edu	37	17	46805705	46805705	+	Missense_Mutation	SNP	C	T	T	rs138213197	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:46805705C>T	uc002ioa.3	-	0	407	c.251G>A	c.(250-252)gGa>gAa	p.G84E		NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	84					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GTACCCGCCTCCAAAGTAACC	0.687000														70			12		0	0	1	0	0
LRRC14	9684	broad.mit.edu	37	8	145745326	145745326	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145745326C>A	uc003zdk.2	+	1	391	c.217C>A	c.(217-219)Cgt>Agt	p.R73S	RECQL4_uc003zdj.3_5'Flank|LRRC14_uc003zdl.2_Missense_Mutation_p.R73S	NM_014665	NP_055480	Q15048	LRC14_HUMAN	Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.	73										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCACTGCAGCCGTGCCCTCCT	0.627000														68			16		2.35188e-11	2.36061e-11	1	1	0
SLC28A1	9154	broad.mit.edu	37	15	85486685	85486685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:85486685G>A	uc002blg.3	+	15	1793	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	SLC28A1_uc010bnb.3_Missense_Mutation_p.E531K|SLC28A1_uc010upe.2_Missense_Mutation_p.E365K|SLC28A1_uc010upf.1_Missense_Mutation_p.E531K|SLC28A1_uc010upg.1_Intron	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	531					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGTCAGAGCTGAAGTCCTCAC	0.537000														68			16		0	0	1	0	0
TCRBV12S3	0	broad.mit.edu	37	7	142206950	142206950	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142206950C>T	uc003vyj.2	-	0	58	c.11G>A	c.(10-12)aGg>aAg	p.R4K	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GAAGAAGAGCCTGGTGCCCAT	0.552000														39			13		0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6670901	6670901	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6670901G>A	uc021qtw.1	-	10	1304	c.1124C>T	c.(1123-1125)gCc>gTc	p.A375V	NOP2_uc009zeq.2_Missense_Mutation_p.A91V|NOP2_uc021qtx.1_Missense_Mutation_p.A375V	NM_001033714	NP_006161	P46087	NOP2_HUMAN	Homo sapiens NOP2 nucleolar protein homolog (yeast) (NOP2), transcript variant 2, mRNA.	379					positive regulation of cell proliferation|rRNA processing	nucleolus	RNA binding|S-adenosylmethionine-dependent methyltransferase activity|protein binding			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GGGTGCCAAGGCCATGACGGG	0.607000														22			4		0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077314	19077314	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:19077314G>A	uc001mph.3	-	1	724	c.636C>T	c.(634-636)ggC>ggT	p.G212G	MRGPRX2_uc021qer.1_Silent_p.G212G	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	212					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GACCCCTGGAGCCACAGAGGA	0.547000														43			26		0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150714259	150714259	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150714259C>T	uc011kvc.2	-	8	2229	c.2153G>A	c.(2152-2154)tGg>tAg	p.W718*	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	718					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		p.W718C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGGGGCGCCAGAGTGGATG	0.652000														18			9		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54661819	54661819	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:54661819C>T	uc003dhf.3	+	9	1017	c.969C>T	c.(967-969)ttC>ttT	p.F323F	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.F229F|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.F57F	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	323	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTCAGCACTTCAGGGAGCATC	0.418000														14			8		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36156555	36156555	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:36156555G>A	uc004ddk.1	+	9	1420	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	412						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						TACTCTTTATGAAATTGACTT	0.289000														14			27		0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29837733	29837733	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:29837733G>A	uc003afn.3	+	1	785	c.576G>A	c.(574-576)tgG>tgA	p.W192*	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	192	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GCACAGAATGGGACCTGGGAG	0.567000														129			44		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17012086	17012086	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17012086G>A	uc002nfb.3	-	35	4880	c.4848C>T	c.(4846-4848)tcC>tcT	p.S1616S	CPAMD8_uc002nfd.1_Silent_p.S81S	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1569						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGCCATATTGGAAGACCCTG	0.637000														21			4		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106431439	106431439	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:106431439C>T	uc003ymd.3	+	1	131	c.108C>T	c.(106-108)tcC>tcT	p.S36S		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	36					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACATCATCTCCAAAGGAGACT	0.408000														58			12		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48736816	48736816	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:48736816C>T	uc001zwx.2	-	48	6354	c.5959G>A	c.(5959-5961)Ggt>Agt	p.G1987S	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1987	EGF-like 34; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGACAGGTACCTGGTGCACAT	0.423000														125			33		0	0	1	0	0
FBLIM1	54751	broad.mit.edu	37	1	16097048	16097048	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16097048G>A	uc001axd.1	+	6	1129	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	FBLIM1_uc001axe.1_Missense_Mutation_p.R229Q|FBLIM1_uc001axg.1_Missense_Mutation_p.R229Q|FBLIM1_uc001axh.1_Missense_Mutation_p.R132Q|FBLIM1_uc001axi.1_Missense_Mutation_p.R132Q	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	229	LIM zinc-binding 1.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			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)		AAGGATGGGCGACCCCTCTGC	0.607000														39			16		0	0	1	0	0
CDR2	1039	broad.mit.edu	37	16	22358533	22358533	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:22358533G>A	uc002dkn.3	-	4	1426	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F		NM_001802	NP_001793	Q01850	CDR2_HUMAN	Homo sapiens cerebellar degeneration-related protein 2, 62kDa (CDR2), mRNA.	373						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		GTGTGACAGGGAGTCCTGTTC	0.592000														79			15		0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154960590	154960590	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154960590C>T	uc001fgf.2	+	1	783	c.382C>T	c.(382-384)Cag>Tag	p.Q128*	FLAD1_uc001fgc.3_Nonsense_Mutation_p.Q29*|FLAD1_uc001fgd.2_Nonsense_Mutation_p.Q128*|FLAD1_uc001fge.2_Nonsense_Mutation_p.Q31*|FLAD1_uc001fgg.2_Nonsense_Mutation_p.Q31*|FLAD1_uc021paj.1_Nonsense_Mutation_p.Q29*|FLAD1_uc001fgh.1_5'UTR	NM_025207	NP_958800	Q8NFF5	FAD1_HUMAN	Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA.	128	Molybdenum cofactor biosynthesis protein- like.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGACACACTCAGGACACCAA	0.562000														148			46		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20258009	20258009	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:20258009G>A	uc002wru.3	+	21	2817	c.2703G>A	c.(2701-2703)gcG>gcA	p.A901A	C20orf26_uc010zse.2_Silent_p.A881A|C20orf26_uc002wrw.3_Non-coding_Transcript	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	901										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)		ACCGGGATGCGATCCTGGCCC	0.632000														106			35		0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24730968	24730968	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24730968G>A	uc001wod.3	-	2	565	c.441C>T	c.(439-441)ttC>ttT	p.F147F	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	147					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GGAGCATATGGAAAGGCTGCC	0.592000														127			13		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96916161	96916161	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:96916161C>T	uc001yfn.2	+	8	937	c.893C>T	c.(892-894)cCt>cTt	p.P298L		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	298					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)		AATACTGGCCCTGGGAAAATC	0.353000														36			17		0	0	1	0	0
BABAM1	29086	broad.mit.edu	37	19	17382414	17382414	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17382414C>T	uc002nfu.3	+	2	412	c.294C>T	c.(292-294)tgC>tgT	p.C98C	BABAM1_uc010xpl.1_Silent_p.C98C|BABAM1_uc002nfv.3_Silent_p.C98C|BABAM1_uc010ean.2_Intron|BABAM1_uc002nfw.3_Silent_p.C98C	NM_014173	NP_054892	Q9NWV8	BABA1_HUMAN	Homo sapiens BRISC and BRCA1 A complex member 1 (BABAM1), transcript variant 2, mRNA.	98	VWFA-like.				G2/M transition DNA damage checkpoint|chromatin modification|double-strand break repair|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						AGATTATCTGCCTGGACCTGT	0.547000														21			9		0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102309921	102309921	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:102309921C>T	uc003knt.3	+	13	1637	c.1264C>T	c.(1264-1266)Ctg>Ttg	p.L422L	PAM_uc003knw.3_Silent_p.L422L|PAM_uc003kns.3_Intron|PAM_uc003knu.3_Silent_p.L422L|PAM_uc011cuz.2_Silent_p.L325L|PAM_uc003knv.3_Silent_p.L422L|PAM_uc003knx.1_Intron|PAM_uc003kny.1_Non-coding_Transcript	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	422	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	AGAGTCAGACCTGGTAGCTGA	0.423000														73			17		0	0	1	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814920	54814920	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:54814920C>T	uc002lgm.3	+	0	628	c.377C>T	c.(376-378)cCa>cTa	p.P126L						Homo sapiens biorientation of chromosomes in cell division 1 pseudogene (BOD1P), non-coding RNA.																		GTGGTGGATCCAAAACTAAAC	0.502000														50			20		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94931643	94931643	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94931643G>A	uc003uns.3	-	7	880	c.783C>T	c.(781-783)tcC>tcT	p.S261S	PON1_uc011kih.2_Silent_p.S261S	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	261					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TAAAGTCAAGGGACTTAAAAG	0.378000														54			6		0	0	1	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74714293	74714293	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:74714293C>T	uc001jtf.1	-	0	218	c.151G>A	c.(151-153)Gat>Aat	p.D51N	PLA2G12B_uc009xqt.1_5'UTR|PLA2G12B_uc010qjz.1_Missense_Mutation_p.D51N	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	Homo sapiens phospholipase A2, group XIIB (PLA2G12B), mRNA.	51					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					AGAAAAGAATCGAAGTAGCTA	0.537000														179			71		0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162740180	162740180	+	Missense_Mutation	SNP	C	T	T	rs140710321	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:162740180C>T	uc001gcf.3	+	12	1847	c.1382C>T	c.(1381-1383)tCa>tTa	p.S461L	DDR2_uc001gcg.3_Missense_Mutation_p.S461L	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	461					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CGCTCCTCATCACCTAGTGAA	0.498000														117			55		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74332987	74332987	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:74332987G>A	uc011lsa.1	-	12	2816	c.2276C>T	c.(2275-2277)cCt>cTt	p.P759L	TMEM2_uc010mos.2_Missense_Mutation_p.P696L|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	759						integral to membrane		p.R758*(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATCCTGATGAGGTCGAAATCT	0.348000														103			13		0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55523928	55523928	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55523928C>T	uc010spe.2	+	0	376	c.376C>T	c.(376-378)Ctc>Ttc	p.L126F		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGTGGCCCAGCTCTTTCTCTT	0.468000														152			18		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53694273	53694273	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:53694273G>A	uc003dgv.4	+	4	900	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	CACNA1D_uc003dgu.4_Missense_Mutation_p.R246Q|CACNA1D_uc003dgy.4_Missense_Mutation_p.R246Q	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	246					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R246*(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CGAGTGTTGCGACCACTTCGA	0.478000														76			15		0	0	1	0	0
C11orf2	738	broad.mit.edu	37	11	64876880	64876880	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64876880C>T	uc001ocr.1	+	5	1612	c.1572C>T	c.(1570-1572)ctC>ctT	p.L524L	TM7SF2_uc001oct.3_5'Flank|TM7SF2_uc010rny.2_5'Flank|TM7SF2_uc001ocu.3_5'Flank|TM7SF2_uc001ocv.3_5'Flank|C11orf2_uc001ocs.1_Silent_p.L400L	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	524					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						CTGCCCTGCTCCTGCTGCTCT	0.612000														72			8		0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183605973	183605973	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:183605973C>T	uc002uow.1	+	12	1496	c.1081C>T	c.(1081-1083)Cgt>Tgt	p.R361C	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.R315C|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	361					ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	p.R361H(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTTAAGGATCGTTTGGCTCA	0.318000														46			6		0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90276307	90276307	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90276307C>T	uc002boj.3	+	12	1502	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	WDR93_uc010bnr.3_Intron|WDR93_uc010upz.2_Silent_p.F184F	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	467					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TAAAATATTTCTCGGTCCACA	0.483000														207			15		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94944769	94944769	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94944769G>A	uc003uns.3	-	3	332	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	PON1_uc011kih.2_Missense_Mutation_p.P79S	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	79					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GGACTGTTGGGGTTGAAGCTC	0.393000														71			16		0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207110583	207110583	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207110583G>A	uc001hez.3	-	3	1086	c.902C>T	c.(901-903)cCc>cTc	p.P301L	PIGR_uc009xbz.3_Missense_Mutation_p.P301L	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	301	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTGTCCTGGGGGTTGAGCAG	0.587000														50			27		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930315	46930315	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:46930315C>T	uc003gxg.3	-	8	2575	c.1592G>A	c.(1591-1593)gGg>gAg	p.G531E	GABRA4_uc021xnz.1_Missense_Mutation_p.G512E|GABRA4_uc021xoa.1_Missense_Mutation_p.G461E	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	531					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	p.G531V(2)|p.F530S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTTAAATGCCCCAAATGTGAC	0.388000														100			23		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768532	117768532	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117768532C>T	uc001twn.2	-	1	1054	c.343G>A	c.(343-345)Ggg>Agg	p.G115R	NOS1_uc001twm.2_Missense_Mutation_p.G115R	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	115	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTGGGGGTCCCATCACCTGTA	0.632000														38			22		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71747982	71747982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71747982G>A	uc010fen.3	+	11	1238	c.1097G>A	c.(1096-1098)aGa>aAa	p.R366K	DYSF_uc010fei.3_Missense_Mutation_p.R365K|DYSF_uc010feh.3_Missense_Mutation_p.R334K|DYSF_uc002sig.4_Missense_Mutation_p.R334K|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R365K|DYSF_uc010fee.3_Missense_Mutation_p.R334K|DYSF_uc010fef.3_Missense_Mutation_p.R365K|DYSF_uc002sie.3_Missense_Mutation_p.R334K|DYSF_uc010feo.3_Missense_Mutation_p.R366K|DYSF_uc010fej.3_Missense_Mutation_p.R335K|DYSF_uc010fel.3_Missense_Mutation_p.R335K|DYSF_uc010fem.3_Missense_Mutation_p.R335K|DYSF_uc002sif.3_Missense_Mutation_p.R335K|DYSF_uc010fek.3_Missense_Mutation_p.R366K	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	334	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCTGGGGCCAGAGGCTACCTG	0.572000														92			27		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236908011	236908011	+	Silent	SNP	C	T	T	rs34785693	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:236908011C>T	uc001hyf.2	+	11	1545	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	ACTN2_uc001hyg.2_Silent_p.F239F|ACTN2_uc009xgi.1_Silent_p.F447F|ACTN2_uc010pxu.1_Silent_p.F136F	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	447					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACGAGGCGTTCGAGAGCGACC	0.637000														21			40		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807483	20807483	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:20807483T>A	uc002npb.1	-	3	1350	c.1200A>T	c.(1198-1200)gaA>gaT	p.E400D	ZNF626_uc002npc.1_Missense_Mutation_p.E324D	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGCCACATTCTTCACATTTGT	0.398000														116			8		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156816391	156816391	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156816391G>A	uc010pht.2	-	7	2029	c.1730C>T	c.(1729-1731)gCc>gTc	p.A577V	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	577	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TAGCGTGATGGCCCGCACAAA	0.612000														38			18		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141012408	141012408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:141012408G>A	uc004cog.3	+	41	5927	c.5782G>A	c.(5782-5784)Gag>Aag	p.E1928K	CACNA1B_uc022bqn.1_Missense_Mutation_p.E1928K|CACNA1B_uc004coi.3_Missense_Mutation_p.E1142K	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1930					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ACAAAACCAAGAGAGTGGCAT	0.567000														22			4		0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17488005	17488005	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17488005G>A	uc002ngk.1	-	0	133	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	31						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGAGGGAGACGAAGAGGAAGA	0.607000														75			31		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685641	100685641	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100685641C>T	uc003uxp.1	+	2	10997	c.10944C>T	c.(10942-10944)acC>acT	p.T3648T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3648	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CATCGGTGACCATTTCTGAGG	0.488000														187			75		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158607975	158607975	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158607975G>A	uc001fst.1	-	35	5236	c.5037C>T	c.(5035-5037)ttC>ttT	p.F1679F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1679					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GATCAACGTTGAAAGTCCCGC	0.423000														35			22		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66937361	66937361	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:66937361C>T	uc004dwu.2	+	4	3330	c.2215C>T	c.(2215-2217)Cag>Tag	p.Q739*	AR_uc022byk.1_Intron|AR_uc004dwv.2_Nonsense_Mutation_p.Q207*	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	738	Interaction with MYST2.|Ligand-binding.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GGCTGTCATTCAGTACTCCTG	0.542000									Androgen Insensitivity Syndrome					13			17		0	0	1	0	0
FAM48B2	170067	broad.mit.edu	37	X	24330498	24330498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:24330498G>A	uc011mjw.2	-	0	935	c.935C>T	c.(934-936)gCt>gTt	p.A312V		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA.	312										breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1)	23						ATACCCTTTAGCAAGTTTCTC	0.532000														51			75		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78328593	78328593	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:78328593C>T	uc003kfs.3	-	8	1440	c.1434G>A	c.(1432-1434)ctG>ctA	p.L478L	DMGDH_uc011cte.1_Silent_p.L328L|DMGDH_uc011ctf.1_Silent_p.L277L|DMGDH_uc011ctg.1_Silent_p.L98L	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	478					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACTTAGACTCCAGCCTTTGAT	0.493000														191			35		0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25023490	25023491	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25023490_25023491CC>TT	uc003aan.1	+	11	1599_1600	c.1112_1113CC>TT	c.(1111-1113)ccc>cTT	p.P371L	GGT1_uc003aas.1_Missense_Mutation_p.P371L|GGT1_uc003aat.1_Missense_Mutation_p.P371L|GGT1_uc003aau.2_Missense_Mutation_p.P371L|GGT1_uc003aav.2_Missense_Mutation_p.P371L|GGT1_uc003aaw.2_Missense_Mutation_p.P371L|GGT1_uc003aax.2_Missense_Mutation_p.P371L|GGT1_uc003aay.1_Missense_Mutation_p.P27L	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	371					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	p.P371P(2)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TACTACAAGCCCGAGTTCTACA	0.619000														25			17		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32065162	32065163	+	Nonsense_Mutation	DNP	AC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32065162_32065163AC>TT	uc003nzl.2	-	2	669_670	c.467_468GT>AA	c.(466-468)tgt>tAA	p.C156*		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	156	EGF-like 1; incomplete.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTCACAGGAACAGGTGCAGCG	0.619000														39			12		0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18765443	18765443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:18765443C>T	uc010exr.3	-	4	920	c.808G>A	c.(808-810)Gag>Aag	p.E270K	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.E328K|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.E268K|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.E328K|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.E311K|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.E345K|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.E330K|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.E268K|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.E120K	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	328	Poly-Gln.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										CCCTCTTGCTCGTAGATTTTC	0.552000														149			52		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209807885	209807885	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:209807885G>A	uc001hhg.3	-	4	861	c.471C>T	c.(469-471)ttC>ttT	p.F157F	LAMB3_uc009xco.3_Silent_p.F157F|LAMB3_uc001hhh.3_Silent_p.F157F|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Intron	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	157	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGACCCGAGGGAAGGTGGAGG	0.637000														64			27		0	0	1	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20781668	20781668	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20781668G>A	uc021rnp.1	-	5	1201	c.590C>T	c.(589-591)cCa>cTa	p.P197L	CCNB1IP1_uc001vwv.3_Missense_Mutation_p.P197L|CCNB1IP1_uc001vwx.3_Missense_Mutation_p.P197L|CCNB1IP1_uc001vwy.3_Missense_Mutation_p.P197L|CCNB1IP1_uc001vwz.3_Missense_Mutation_p.P197L	NM_182852	NP_878272	Q9NPC3	CIP1_HUMAN	Homo sapiens cyclin B1 interacting protein 1, E3 ubiquitin protein ligase (CCNB1IP1), transcript variant 4, mRNA.	197						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		AATCATGGATGGTTCAAGGGT	0.418000			T	HMGA2	leiomyoma									115			27		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134980930	134980930	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:134980930C>T	uc001llz.1	+	1	149	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F	KNDC1_uc001lma.1_5'UTR	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	50	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGACCGCGGCCTCAGCGAGCA	0.711000														10			4		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144944640	144944640	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144944640C>T	uc003zaa.1	-	0	2795	c.2782G>A	c.(2782-2784)Ggc>Agc	p.G928S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	928						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTCCCAGGCCGCACAGGTAC	0.682000														28			7		0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14746012	14746012	+	Silent	SNP	C	T	T	rs147231935		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:14746012C>T	uc003jfm.4	-	6	1213	c.882G>A	c.(880-882)acG>acA	p.T294T		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	294					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CACGGATTTCCGTCAACCAGC	0.522000														57			15		0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149129188	149129189	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149129188_149129189GG>AA	uc003wfv.3	-	5	2337_2338	c.2174_2175CC>TT	c.(2173-2175)ccc>cTT	p.P725L		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	725					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCTCGCACTCGGGGCACTTGAA	0.673000														109			25		0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043528	56043528	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56043528C>T	uc001nio.1	+	0	414	c.414C>T	c.(412-414)atC>atT	p.I138I		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ATGTAGCCATCTACAACCCTC	0.428000														184			97		0	0	1	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766568	27766568	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:27766568T>A	uc011mjy.2	+	0	1643	c.1556T>A	c.(1555-1557)cTt>cAt	p.L519H		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATAAACTGTCTTGAACCCCAC	0.507000														3			11		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14747004	14747004	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14747004C>T	uc003zlm.3	-	34	6871	c.6055G>A	c.(6055-6057)Gga>Aga	p.G2019R	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.G555R	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	2019					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGGAAGAGTCCCTTTAATTCC	0.468000														23			6		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25789932	25789932	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:25789932C>T	uc003gru.4	-	12	2283	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	SEL1L3_uc003grv.3_Missense_Mutation_p.E118K	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	711						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATTGCTGCTTCGGGATTCTTG	0.463000														115			40		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455093	84455093	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:84455093G>A	uc001vlk.3	-	0	1436	c.550C>T	c.(550-552)Ctc>Ttc	p.L184F		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	184						integral to membrane		p.D183E(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTACCCCGGAGGTCGAGGTGG	0.532000														70			33		0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86959980	86959980	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:86959980G>A	uc001dlt.3	+	10	2051	c.1791G>A	c.(1789-1791)acG>acA	p.T597T	CLCA1_uc001dls.1_Silent_p.T536T	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	597					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTTCCAAAACGAACAAGGACA	0.517000														43			12		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6087174	6087174	+	Silent	SNP	C	T	T	rs61753516		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:6087174C>T	uc010idb.1	-	3	1293	c.807G>A	c.(805-807)ggG>ggA	p.G269G	JAKMIP1_uc010idc.1_Silent_p.G104G|JAKMIP1_uc010idd.1_Silent_p.G269G|JAKMIP1_uc003giu.4_Silent_p.G269G|JAKMIP1_uc011bwc.2_Silent_p.G104G|JAKMIP1_uc003giv.4_Silent_p.G269G|JAKMIP1_uc010ide.3_Silent_p.G269G	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	269	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.G269R(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCACCATGTCCCCGATCCCGG	0.607000														41			11		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48628970	48628970	+	Silent	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48628970C>G	uc003ctz.2	-	11	1564	c.1563G>C	c.(1561-1563)ggG>ggC	p.G521G		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	521	Fibronectin type-III 4.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCACCCGCTGCCCGGGCAGCT	0.662000														120			16		0	0	1	0	0
C10orf27	219793	broad.mit.edu	37	10	72538330	72538330	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72538330C>T	uc010qjm.1	-	5	880	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	C10orf27_uc001jrj.1_Missense_Mutation_p.E164K|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Missense_Mutation_p.E163K|C10orf27_uc009xqi.1_Intron|C10orf27_uc010qjo.1_Missense_Mutation_p.E152K|C10orf27_uc009xqj.1_3'UTR|C10orf27_uc010qjp.1_3'UTR	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	164					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						TTCTTCAGTTCATCCTCCTTG	0.557000														160			71		0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587196	36587196	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:36587196C>T	uc003aox.3	-	5	1205	c.980G>A	c.(979-981)aGg>aAg	p.R327K	APOL4_uc003aow.3_Missense_Mutation_p.R324K|APOL4_uc010gww.3_Missense_Mutation_p.R170K	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant b, mRNA.	328					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						AGCCCACTGCCTCAGCGACTC	0.537000														19			6		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25684929	25684929	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:25684929G>A	uc001isj.3	+	2	1158	c.1098G>A	c.(1096-1098)gtG>gtA	p.V366V		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	366						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCTTACCAGTGAACAACTTTC	0.358000														37			13		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22315315	22315315	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22315315G>A	uc001wbz.1	+	1	478	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Non-coding_Transcript|TCRA_uc010ait.1_Missense_Mutation_p.E66K					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: un 132.																		TTTTGAGGCTGAATTTAAGAA	0.502000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		141			61		0	0	1	0	0
CALB2	794	broad.mit.edu	37	16	71423699	71423699	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71423699C>T	uc002faa.4	+	10	827	c.747C>T	c.(745-747)tcC>tcT	p.S249S	CALB2_uc010vme.2_Non-coding_Transcript|CALB2_uc002fac.4_3'UTR	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	249	EF-hand 6.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GCGTCATGTCCTTGGCAGAGG	0.562000														201			39		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22788875	22788875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22788875C>T	uc001wdr.2	+	1	140	c.88C>T	c.(88-90)Cct>Tct	p.P30S	TCRA_uc001wbw.2_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_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 41, partial cds, clone: SEB 69.																		GGAGCAGAGTCCTCAGAACCT	0.418000														14			12		0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241468740	241468740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241468740G>A	uc010fzd.1	-	4	792	c.667C>T	c.(667-669)Ctc>Ttc	p.L223F	ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Missense_Mutation_p.L134F|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	134							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCTTCTGAGAGGCTGATCCTG	0.542000														46			16		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8486138	8486138	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:8486138G>A	uc003zkk.3	-	27	3422	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	893	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V892A(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGAGAGCCTGAAGACGTATG	0.463000										TSP Lung(15;0.13)				34			27		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92150276	92150276	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:92150276C>T	uc001xzs.1	-	10	1016	c.876G>A	c.(874-876)gtG>gtA	p.V292V		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	292					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GTTTTCCTTTCACATAGTCAA	0.259000														86			31		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386727	56386727	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56386727G>A	uc002ivx.4	-	21	4777	c.3906C>T	c.(3904-3906)ccC>ccT	p.P1302P	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Silent_p.P1242P|BZRAP1_uc010wnt.2_Silent_p.P1302P	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1302						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTCACAAAAGGGGTCGGGCT	0.587000														39			16		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	38997699	38997699	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:38997699C>T	uc011aej.1	-	3	1087	c.1034G>A	c.(1033-1035)gGg>gAg	p.G345E	KCNJ6_uc002ywo.2_Missense_Mutation_p.G345E	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	345					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TTCGTAGAACCCGTCCTCCAG	0.557000														88			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179443794	179443794	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179443794C>T	uc021vsy.1	-	268	60484	c.60259G>A	c.(60259-60261)Gaa>Aaa	p.E20087K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E13782K|TTN_uc021vta.1_Missense_Mutation_p.E13715K|TTN_uc021vtb.1_Missense_Mutation_p.E13590K|AX746670_uc002umv.1_Missense_Mutation_p.S7L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21014	Fibronectin type-III 45.						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)			GCTGTGACTTCATCAAATTTG	0.453000														36			25		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45725748	45725748	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:45725748G>A	uc002xsm.3	+	8	1203	c.829G>A	c.(829-831)Gag>Aag	p.E277K	EYA2_uc010ghp.3_Missense_Mutation_p.E277K|EYA2_uc002xsq.3_Missense_Mutation_p.E277K	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	277					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GGACTTGGATGAGACAATAAT	0.403000														183			60		0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100354555	100354555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:100354555C>T	uc003duc.3	+	4	750	c.482C>T	c.(481-483)tCt>tTt	p.S161F	GPR128_uc011bhc.2_5'UTR	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	161					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S161F(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AATAACATTTCTTCTGAAGTC	0.368000														88			18		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627445	38627445	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38627445G>A	uc021wvo.1	-	14	2576	c.2524C>T	c.(2524-2526)Ctg>Ttg	p.L842L	SCN5A_uc021wvk.1_Silent_p.L842L|SCN5A_uc021wvl.1_Silent_p.L842L|SCN5A_uc021wvm.1_Silent_p.L842L|SCN5A_uc021wvn.1_Silent_p.L842L|SCN5A_uc021wvp.1_Silent_p.L842L|SCN5A_uc021wvq.1_Silent_p.L842L|SCN5A_uc021wvr.1_Silent_p.L842L|SCN5A_uc021wvs.1_Silent_p.L842L|SCN5A_uc021wvt.1_Silent_p.L842L|SCN5A_uc021wvu.1_Silent_p.L842L|SCN5A_uc021wvv.1_Silent_p.L842L|SCN5A_uc021wvj.1_Silent_p.L708L|SCN5A_uc021wvi.1_Silent_p.L708L|SCN5A_uc021wvw.1_Silent_p.L453L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	842					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ACCAGTGTCAGGTTCCCCAGT	0.572000														63			30		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130162345	130162345	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130162345G>A	uc010htj.1	+	35	7007	c.6513G>A	c.(6511-6513)ccG>ccA	p.P2171P	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Silent_p.P210P|COL6A5_uc010htk.1_Silent_p.P210P	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2171	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ACCCACCACCGATGCTTGAGG	0.373000														52			22		0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2853194	2853194	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:2853194C>T	uc002lwo.3	+	3	1269	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	ZNF555_uc002lwn.4_Silent_p.F376F	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		GGAAGACCTTCATTTATCCCC	0.463000														42			11		0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079799	70079799	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:70079799C>T	uc003heh.3	-	0	651	c.642G>A	c.(640-642)atG>atA	p.M214I	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	214					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						GCACATAGATCATATTTTTTA	0.343000														57			23		0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191300967	191300967	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:191300967C>T	uc002urz.2	+	2	536	c.212C>T	c.(211-213)tCc>tTc	p.S71F		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	71					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CTTCTAATTTCCAAGGTCTTT	0.398000														98			39		0	0	1	0	0
TIPRL	261726	broad.mit.edu	37	1	168153170	168153170	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:168153170C>T	uc001gfg.3	+	1	280	c.135C>T	c.(133-135)ctC>ctT	p.L45L	TIPRL_uc001gff.3_Silent_p.L45L	NM_152902	NP_690866	O75663	TIPRL_HUMAN	Homo sapiens TIP41, TOR signaling pathway regulator-like (S. cerevisiae) (TIPRL), transcript variant 1, mRNA.	45					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					TGCCATCTCTCCCTGAAATGA	0.388000														98			40		0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111166	55111166	+	Silent	SNP	C	T	T	rs144421988	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55111166C>T	uc010rie.2	+	0	490	c.490C>T	c.(490-492)Cta>Tta	p.L164L		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TCTGTACAGTCTACCAATCTG	0.443000														145			31		0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577134	158577134	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158577134G>A	uc010pio.2	+	0	906	c.906G>A	c.(904-906)agG>agA	p.R302R		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CAGCTCTGAGGAATGCTTTCA	0.458000														191			72		0	0	1	0	0
MSMB	4477	broad.mit.edu	37	10	51556768	51556768	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:51556768G>A	uc001jiq.3	+	2	159	c.127G>A	c.(127-129)Gga>Aga	p.G43R	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|MSMB_uc001jir.3_Intron	NM_002443	NP_002434	P08118	MSMB_HUMAN	Homo sapiens microseminoprotein, beta- (MSMB), transcript variant PSP94, mRNA.	43						extracellular space|nucleus				lung(4)|ovary(2)|prostate(1)	7						GGATCTCAAAGGAAACAAACA	0.428000														48			19		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35247748	35247748	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:35247748G>A	uc002yta.1	+	33	4532	c.4264G>A	c.(4264-4266)Gaa>Aaa	p.E1422K	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.E1417K|ITSN1_uc002ytj.2_Intron|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc010gmn.1_Non-coding_Transcript|ITSN1_uc002ytk.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1422	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|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CCAGGTGAACGAAGGGGTGCG	0.607000														93			37		0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1732664	1732664	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:1732664C>T	uc003gdo.3	+	4	1591	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V	TACC3_uc010ibz.3_Missense_Mutation_p.A479V|TACC3_uc003gdp.3_Missense_Mutation_p.A119V	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	479						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAGTTGGCAGCCGAGACCCCA	0.632000														53			6		0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303045	53303045	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53303045G>A	uc002qad.3	-	3	2210	c.2053C>T	c.(2053-2055)Cat>Tat	p.H685Y	ZNF28_uc002qac.3_Missense_Mutation_p.H631Y|ZNF28_uc010eqe.3_Missense_Mutation_p.H631Y|ZNF28_uc021uza.1_Missense_Mutation_p.H632Y	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	685					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TCTCCAGTATGAACTCTCTGA	0.408000														184			53		0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59937222	59937222	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:59937222G>A	uc002izk.2	-	2	446	c.140C>T	c.(139-141)cCc>cTc	p.P47L		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	47	Helicase ATP-binding.		P -> A (in BC; early onset; loss of ATPase and helicase activities; dbSNP:rs28903098).		DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACTTCCTGTGGGACTCTCCAA	0.353000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						98			18		0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155720128	155720128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155720128G>A	uc003ioo.3	+	3	987	c.814G>A	c.(814-816)Gat>Aat	p.D272N	RBM46_uc011cim.1_Missense_Mutation_p.D272N|RBM46_uc003iop.1_Missense_Mutation_p.D272N	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	272	RRM 3.						RNA binding|nucleotide binding	p.D272Y(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GAAACTTAGAGATTATGCTTT	0.353000														50			18		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106976817	106976817	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106976817G>A	uc001kyi.1	+	18	2898	c.2671G>A	c.(2671-2673)Gtg>Atg	p.V891M	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	891	PKD.					integral to membrane	neuropeptide receptor activity	p.Q890H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GATCTTCCAGGTGACAGCCTA	0.532000														54			27		0	0	1	0	0
ALDH7A1	501	broad.mit.edu	37	5	125919701	125919701	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:125919701G>A	uc003ktx.3	-	3	508	c.316C>T	c.(316-318)Cct>Tct	p.P106S	ALDH7A1_uc011cxa.2_Missense_Mutation_p.P133S	NM_001201377	NP_001188306	P49419	AL7A1_HUMAN	Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA.	106					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	TTTGGAGCAGGAATCTAAGAA	0.348000														50			29		0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95263154	95263154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:95263154C>T	uc011lty.2	-	8	1973	c.1786G>A	c.(1786-1788)Gat>Aat	p.D596N	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.D574N|ECM2_uc004asg.3_Missense_Mutation_p.D574N|ECM2_uc010mqz.2_Missense_Mutation_p.D18N	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	596					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCCATGCCATCATCAGCAAGT	0.443000														94			25		0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142513531	142513531	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:142513531G>A	uc011dbj.2	+	19	1734	c.1699_splice	c.e19-1	p.I567_splice	ARHGAP26_uc003lmt.3_Splice_Site_p.I567_splice|ARHGAP26_uc003lmw.3_Splice_Site_p.I567_splice	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	567	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCGTTTGCAGATATTTAACA	0.517000														193			88		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101892274	101892274	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:101892274C>T	uc003uys.4	+	23	4630	c.4503C>T	c.(4501-4503)cgC>cgT	p.R1501R	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.R1490R	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1490					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCATCCACCGCCTGGAGAAGG	0.706000														14			5		0	0	1	0	0
TBC1D21	161514	broad.mit.edu	37	15	74177154	74177154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74177154C>T	uc002avz.3	+	4	483	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S	TBC1D21_uc010ulc.2_Missense_Mutation_p.P98S	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	134	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						TGACAAAGATCCCCTGGGCAA	0.522000														40			16		0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120366	47120366	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:47120366G>A	uc001wwg.3	-	0	663	c.574C>T	c.(574-576)Cct>Tct	p.P192S		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	192					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CAACCATCAGGGATGAGGCAC	0.517000														83			41		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39228121	39228121	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:39228121C>T	uc003cjk.2	-	1	3045	c.2816G>A	c.(2815-2817)aGt>aAt	p.S939N	XIRP1_uc003cji.3_Missense_Mutation_p.S939N|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.S939N	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	939							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)		GTGCAGGCCACTCAGGTCTCC	0.632000														61			19		0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456292	5456292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:5456292C>T	uc002mca.4	+	0	867	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	264						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		TACCCTGGCCCTGGTCGTATC	0.677000														71			27		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368336	18368336	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18368336G>A	uc010ebn.2	-	3	3974	c.3758C>T	c.(3757-3759)cCt>cTt	p.P1253L	PDE4C_uc002nil.4_5'Flank|PDE4C_uc021uql.1_5'Flank|KIAA1683_uc002nin.2_Missense_Mutation_p.P1066L|KIAA1683_uc010xqe.1_Missense_Mutation_p.P1020L|KIAA1683_uc010xqf.1_Non-coding_Transcript	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	0						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACAGGTGCGAGGGCTGGAGCC	0.687000														14			5		0	0	1	0	0
ZNF286B	729288	broad.mit.edu	37	17	18565296	18565296	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:18565296G>A	uc010vyd.1	-	4	1774	c.1523C>T	c.(1522-1524)tCa>tTa	p.S508L		NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN	Homo sapiens zinc finger protein 286B (ZNF286B), mRNA.	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						GATGAGAGATGAACTGCACTT	0.363000														27			18		0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128856489	128856489	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:128856489G>A	uc009zcp.3	-	12	1331	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	ARHGAP32_uc009zcq.2_Missense_Mutation_p.S404F|ARHGAP32_uc009zco.3_5'UTR|ARHGAP32_uc001qez.3_Missense_Mutation_p.S95F|ARHGAP32_uc001qfb.3_Missense_Mutation_p.S229F	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	444	Rho-GAP.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTTACATAGGGAACCCACAGA	0.468000														87			23		0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55894164	55894164	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:55894164G>C	uc002rzf.2	-	12	1191	c.1138C>G	c.(1138-1140)Ctt>Gtt	p.L380V		NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	Homo sapiens polyribonucleotide nucleotidyltransferase 1 (PNPT1), mRNA.	380					RNA processing|mRNA catabolic process	plasma membrane	3'-5'-exoribonuclease activity|RNA binding|polyribonucleotide nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GATCCATGAAGGGTTTTAAAC	0.308000														39			16		0	0	1	0	0
TUBA1B	10376	broad.mit.edu	37	12	49523142	49523142	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49523142G>A	uc001rtm.3	-	2	479	c.258C>T	c.(256-258)ctC>ctT	p.L86L	TUBA1B_uc021qxn.1_5'Flank|TUBA1B_uc001rtl.3_Silent_p.L51L	NM_006082	NP_006073	P68363	TBA1B_HUMAN	Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA.	86					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						CAGGGTGGAAGAGCTGGCGGT	0.557000														106			51		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386285	56386285	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56386285C>T	uc002ivx.4	-	21	5219	c.4348G>A	c.(4348-4350)Ggt>Agt	p.G1450S	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.G1390S|BZRAP1_uc010wnt.2_Missense_Mutation_p.G1450S	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1450						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGAGGCCACCCCTCTCCCGT	0.697000														45			23		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18889628	18889628	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:18889628C>T	uc003zne.4	+	24	4677	c.4525C>T	c.(4525-4527)Cag>Tag	p.Q1509*	ADAMTSL1_uc003znf.4_Nonsense_Mutation_p.Q210*	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1509						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCGGGGGGTTCAGCAGCCCCG	0.607000														31			5		0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28304412	28304412	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:28304412G>A	uc002ymg.3	-	5	2689	c.1960C>T	c.(1960-1962)Ccc>Tcc	p.P654S		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	654	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCATATTTGGGAACCCATTCC	0.448000														24			46		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49444380	49444380	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49444380G>A	uc001rta.4	-	10	2991	c.2991C>T	c.(2989-2991)ccC>ccT	p.P997P		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	997	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGATCATAGGGGGGACAGGCT	0.617000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				31			10		0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31952984	31952984	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31952984C>T	uc003ale.3	+	6	994	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	SFI1_uc003ald.1_Missense_Mutation_p.R177C|SFI1_uc003alf.3_Missense_Mutation_p.R201C|SFI1_uc003alg.3_Missense_Mutation_p.R119C|SFI1_uc011alp.2_Missense_Mutation_p.R119C|SFI1_uc011alq.2_Missense_Mutation_p.R177C|SFI1_uc003alh.3_Intron	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	201					G2/M transition of mitotic cell cycle	centriole|cytosol		p.R201H(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CGTGGTTGTTCGTAGGACCAA	0.468000														57			20		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299274	58299274	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:58299274G>T	uc001vhq.1	+	3	4218	c.3326G>T	c.(3325-3327)cGg>cTg	p.R1109L	PCDH17_uc010aec.1_Missense_Mutation_p.R1108L|PCDH17_uc001vhr.1_Missense_Mutation_p.R198L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1109					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R1109R(1)|p.R1109W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGAGCCAGCCGGGATTCCAGT	0.517000														171			45		3.54561e-26	3.56659e-26	1	1	0
OR10J5	127385	broad.mit.edu	37	1	159504872	159504872	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159504872G>A	uc010piw.2	-	0	926	c.926C>T	c.(925-927)tCt>tTt	p.S309F		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AATCCATTAAGAAATATTTCT	0.388000														36			16		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233297093	233297093	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233297093C>T	uc001hvl.2	-	17	3525	c.3290G>A	c.(3289-3291)tGg>tAg	p.W1097*	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.	1097						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)				GATGAGATCCCATTTTAAGAC	0.473000														23			5		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21249714	21249714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21249714G>A	uc002red.3	-	14	2318	c.2190C>T	c.(2188-2190)gtC>gtT	p.V730V		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	730			V -> I (in dbSNP:rs12691202).		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGACCTTAGAGACACCATCAG	0.413000														96			33		0	0	1	0	0
ZNF384	171017	broad.mit.edu	37	12	6781694	6781694	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6781694G>A	uc010sfh.2	-	7	1186	c.916C>T	c.(916-918)Cac>Tac	p.H306Y	ZNF384_uc001qqa.3_Intron|ZNF384_uc001qqd.3_Intron	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	Homo sapiens zinc finger protein 384 (ZNF384), transcript variant 7, mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						ATCTTGGAGTGGATCCTGCCG	0.607000			T	"""EWSR1, TAF15 """	ALL									31			14		0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41482155	41482155	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:41482155C>T	uc010ucv.2	-	10	1308	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	EXD1_uc001znj.3_Missense_Mutation_p.D86N|EXD1_uc001znk.3_Missense_Mutation_p.D288N	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	288					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	p.G346W(1)		large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CCAAGCCGGTCTGCAGACCCT	0.527000														69			26		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111061284	111061284	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111061284C>T	uc001dzt.1	-	0	514	c.126G>A	c.(124-126)ggG>ggA	p.G42G		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	42						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGGAGCTGCCCCCAGGCCGGC	0.557000														37			18		0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847480	7847480	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7847480G>A	uc010rbg.2	-	0	40	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AACCCCAAAAGAGTAAACTCT	0.343000														59			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	23265006	23265006	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:23265006C>T	uc021wml.1	+	445		c.18475C>T								Parts of antibodies, mostly variable regions.																		CAGTGGAAGTCCCACAGAAGC	0.612000														66			12		0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40774191	40774191	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:40774191G>A	uc004abs.2	-	4	1236	c.1084C>T	c.(1084-1086)Ctc>Ttc	p.L362F	ZNF658_uc010mmm.2_Missense_Mutation_p.L362F|ZNF658_uc010mmn.1_Missense_Mutation_p.L362F	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCTGGTAGAGGGCATCTGTA	0.363000														195			89		0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17434544	17434544	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:17434544C>T	uc002wpm.3	+	8	1397	c.1043C>T	c.(1042-1044)tCt>tTt	p.S348F	PCSK2_uc002wpl.3_Missense_Mutation_p.S329F|PCSK2_uc010zrm.2_Missense_Mutation_p.S313F	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	348	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGAGCTGCTCTTCCACCTTG	0.597000														70			25		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58118620	58118620	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58118620G>A	uc003djj.2	+	25	4641	c.4476G>A	c.(4474-4476)atG>atA	p.M1492I	FLNB_uc010hne.2_Missense_Mutation_p.M1523I|FLNB_uc003djk.2_Missense_Mutation_p.M1492I|FLNB_uc010hnf.2_Missense_Mutation_p.M1492I|FLNB_uc003djl.2_Missense_Mutation_p.M1323I|FLNB_uc003djm.2_Missense_Mutation_p.M1323I	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1492	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GACCTTACATGGTCTCAGTTA	0.512000														27			13		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140735371	140735371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140735371C>T	uc003ljq.2	+	0	604	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.R202C	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	202	Cadherin 2.				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)			CGCTCTAGATCGCGAGGAAGA	0.557000														16			11		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216496929	216496929	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:216496929G>A	uc001hku.1	-	7	1824	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	USH2A_uc001hkv.3_Silent_p.F479F	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	479	Laminin N-terminal.		F -> S.		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.F479F(2)		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)		TGGCTTTTACGAACTCTTGAA	0.408000										HNSCC(13;0.011)				172			16		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2298005	2298005	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:2298005C>T	uc002wfx.4	+	6	954	c.857C>T	c.(856-858)tCt>tTt	p.S286F		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	286					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	p.S286F(2)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCGCTGCGGTCTTTGGGGATT	0.582000														74			46		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190250839	190250839	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:190250839C>T	uc001gse.1	-	2	510	c.278G>A	c.(277-279)aGa>aAa	p.R93K	FAM5C_uc010pot.1_Intron	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	93						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)					GAAATTTCTTCTCTCAACTGC	0.398000														91			20		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79326248	79326248	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:79326248C>T	uc010mpk.3	-	7	1066	c.942G>A	c.(940-942)caG>caA	p.Q314Q	PRUNE2_uc022bih.1_Silent_p.Q136Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	314					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGCAAGGGTTCTGACACTCTT	0.488000														13			10		0	0	1	0	0
SCARF2	91179	broad.mit.edu	37	22	20780149	20780149	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:20780149G>A	uc002zsj.2	-	10	2234	c.2129C>T	c.(2128-2130)tCg>tTg	p.S710L	SCARF2_uc002zsk.2_Missense_Mutation_p.S705L	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA.	705	Pro-rich.				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGTATGCGCCGATTTGTCGCT	0.766000														13			9		0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109865299	109865299	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:109865299G>A	uc010sxn.1	+	17	1809	c.1809G>A	c.(1807-1809)agG>agA	p.R603R		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TCCTCATAAGGCATCAGATCA	0.463000														177			69		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34773187	34773187	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34773187G>A	uc002xfb.3	+	6	886	c.715G>A	c.(715-717)Gag>Aag	p.E239K	EPB41L1_uc002xeu.3_Missense_Mutation_p.E177K|EPB41L1_uc010zvo.1_Missense_Mutation_p.E239K|EPB41L1_uc002xev.3_Missense_Mutation_p.E239K|EPB41L1_uc002xew.3_Missense_Mutation_p.E142K|EPB41L1_uc002xex.3_Missense_Mutation_p.E208K|EPB41L1_uc002xey.3_Intron|EPB41L1_uc002xez.3_Missense_Mutation_p.E177K	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	239	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	p.S238S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CTATGTCAGCGAGCTCCGCTT	0.587000														46			17		0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43627933	43627933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:43627933C>T	uc004dfz.4	-	13	1554	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N	MAOB_uc011mkx.2_Missense_Mutation_p.G411E|MAOB_uc011mky.2_Missense_Mutation_p.D444N	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	460					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	CAGATTTCATCCTCTGGAATC	0.398000														18			23		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47210392	47210392	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:47210392G>A	uc002ion.2	+	0	64	c.5G>A	c.(4-6)gGg>gAg	p.G2E	B4GALNT2_uc010wlt.1_Intron|B4GALNT2_uc010wlu.1_Intron	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	2					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCAGGAATGGGGAGCGCTGGC	0.647000														17			8		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72050250	72050250	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72050250G>A	uc002atb.1	+	13	2504	c.2425G>A	c.(2425-2427)Gag>Aag	p.E809K	THSD4_uc002ate.2_Missense_Mutation_p.E449K|THSD4_uc002atg.1_Missense_Mutation_p.E12K	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	809	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTGCTCAGCGGAGTGTGGGGC	0.612000														74			20		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7806009	7806009	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:7806009C>T	uc001aoi.3	+	17	4682	c.4475C>T	c.(4474-4476)gCc>gTc	p.A1492V	CAMTA1_uc001aok.4_Missense_Mutation_p.A535V|CAMTA1_uc001aoj.3_Missense_Mutation_p.A448V|CAMTA1_uc009vmf.3_Missense_Mutation_p.A82V	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTTCCCTCCGCCGCGGATTGG	0.488000			T	WWTR1	epitheliod hemangioendothelioma									124			27		0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104075163	104075163	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104075163C>T	uc004bbb.3	+	5	1119	c.720C>T	c.(718-720)ttC>ttT	p.F240F	LPPR1_uc011lvi.2_Silent_p.F216F|LPPR1_uc004bbc.3_Silent_p.F240F|LPPR1_uc010mtc.3_Silent_p.F224F	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	240						integral to membrane	catalytic activity										GCACAGCCTTCCTGACAGGCC	0.547000														111			28		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41100936	41100936	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:41100936C>T	uc002xkg.3	-	7	1604	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	PTPRT_uc010ggj.3_Missense_Mutation_p.E474K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	474	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCAGCTCCTCGCTCTCCATT	0.587000														96			14		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79842818	79842818	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:79842818C>T	uc001sys.3	+	11	1854	c.1183C>T	c.(1183-1185)Ctg>Ttg	p.L395L	SYT1_uc001syt.3_Silent_p.L395L|SYT1_uc001syu.3_Silent_p.L392L|SYT1_uc001syv.3_Silent_p.L395L	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	395					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GTCAGACATGCTGGCCAACCC	0.547000														39			17		0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45540982	45540982	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45540982C>T	uc021uvq.1	+	11	1805	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F	RELB_uc021uvp.1_Silent_p.F555F|CLASRP_uc002pak.3_5'Flank|CLASRP_uc002pal.3_5'Flank|CLASRP_uc010xxh.2_5'Flank|CLASRP_uc002pam.3_5'Flank|CLASRP_uc002pan.1_5'Flank	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	558						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCAACATGTTCCCCAATCATT	0.697000														27			5		0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131750420	131750420	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131750420C>T	uc004bws.1	+	23	2510	c.2488C>T	c.(2488-2490)Cct>Tct	p.P830S	NUP188_uc004bwu.3_Missense_Mutation_p.P173S	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	830					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCTGAAACCTCCTTCTAATGT	0.498000														188			54		0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59210841	59210841	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59210841G>A	uc001nnx.1	+	0	200	c.200G>A	c.(199-201)aGc>aAc	p.S67N		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S67I(2)|p.S67R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTCTTCCTAAGCAACTTATCT	0.483000														150			56		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50599869	50599869	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50599869G>A	uc003bjj.3	+	26	3710	c.3627G>A	c.(3625-3627)gaG>gaA	p.E1209E	MOV10L1_uc003bjk.4_Silent_p.E1163E|MOV10L1_uc011arp.2_Missense_Mutation_p.A1159T|MOV10L1_uc003bjl.3_Silent_p.E336E	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1209					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGCATCAGGAGCCCAGCTGAT	0.627000														12			3		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69935090	69935090	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:69935090G>A	uc001jnm.4	+	12	2760	c.2575G>A	c.(2575-2577)Gga>Aga	p.G859R	MYPN_uc001jnn.4_Missense_Mutation_p.G584R|MYPN_uc001jno.4_Missense_Mutation_p.G859R|MYPN_uc009xpt.3_Missense_Mutation_p.G859R|MYPN_uc010qit.2_Missense_Mutation_p.G565R|MYPN_uc010qiu.2_Intron	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	859						nucleus|sarcomere	actin binding	p.G859R(2)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCCATCCCAGGGATTAGCGAA	0.423000														35			21		0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154284151	154284151	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:154284151G>A	uc003lvx.3	-	17	2631	c.2548C>T	c.(2548-2550)Ccc>Tcc	p.P850S	GEMIN5_uc011ddk.1_Missense_Mutation_p.P849S	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	850					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTACTCAGGGGAAGCAAGGAA	0.403000														81			34		0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152737379	152737379	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152737379C>T	uc002tya.3	-	3	393	c.325G>A	c.(325-327)Gag>Aag	p.E109K	CACNB4_uc002txy.3_Missense_Mutation_p.E75K|CACNB4_uc002txz.3_Missense_Mutation_p.E91K|CACNB4_uc010fnz.3_Missense_Mutation_p.E109K|CACNB4_uc021vre.1_Missense_Mutation_p.E75K|CACNB4_uc002tyb.2_Missense_Mutation_p.E75K	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	109					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	GGCACATCCTCGTCCAGGGCG	0.473000														26			13		0	0	1	0	0
RBMX2	51634	broad.mit.edu	37	X	129546525	129546525	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:129546525C>T	uc004evt.3	+	5	736	c.672C>T	c.(670-672)ctC>ctT	p.L224L		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	Homo sapiens RNA binding motif protein, X-linked 2 (RBMX2), mRNA.	224	Lys-rich.						RNA binding|nucleotide binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						GGCAGAAGCTCCCCAAATCCA	0.557000														14			37		0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17208398	17208398	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:17208398G>A	uc010hev.3	-	22	2285	c.2021C>T	c.(2020-2022)tCc>tTc	p.S674F	TBC1D5_uc010heu.3_Missense_Mutation_p.S239F|TBC1D5_uc003cbf.3_Missense_Mutation_p.S652F|TBC1D5_uc003cbe.3_Missense_Mutation_p.S652F	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	652						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AAAACGCAGGGAACCTTTTAG	0.448000														37			18		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111184	7111184	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7111184C>T	uc001mfc.2	+	0	1020	c.833C>T	c.(832-834)tCc>tTc	p.S278F		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	278	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCAGAGGCTCCCATCGAGAG	0.657000														42			23		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295045	29295045	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29295045C>T	uc002rmt.2	-	0	2083	c.2083G>A	c.(2083-2085)Gaa>Aaa	p.E695K		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	695					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTGCCTTGTTCGTCCTCAGGA	0.537000														103			25		0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131753	82131753	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:82131753G>A	uc002fgv.3	+	4	1048	c.876G>A	c.(874-876)caG>caA	p.Q292Q		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	292					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	CTGAGGTACAGGAAGACTACG	0.537000														79			25		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45708297	45708297	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45708297G>A	uc002zei.2	+	4	735	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	AIRE_uc010gpq.2_5'Flank|AIRE_uc002zej.2_5'Flank|AIRE_uc010gpr.2_5'Flank	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	203	SAND.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CCGGGAGCCCGAGGGGCCGTG	0.632000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					59			33		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115349528	115349528	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115349528G>A	uc001lal.3	-	40	5149	c.4985C>T	c.(4984-4986)aCc>aTc	p.T1662I	NRAP_uc009xyb.3_Missense_Mutation_p.T415I|NRAP_uc001laj.3_Missense_Mutation_p.T1662I|NRAP_uc001lak.3_Missense_Mutation_p.T1627I	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1662						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AACACCTCTGGTCAGGTTCAA	0.542000														94			28		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115947732	115947732	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115947732C>T	uc001lbg.1	+	1	295	c.142C>T	c.(142-144)Cct>Tct	p.P48S	TDRD1_uc001lbf.3_Missense_Mutation_p.P39S|TDRD1_uc001lbh.1_Missense_Mutation_p.P39S|TDRD1_uc001lbi.1_Missense_Mutation_p.P39S	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	48					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGGAACACTTCCTAACCACCC	0.373000														114			34		0	0	1	0	0
RNASEH2B	79621	broad.mit.edu	37	13	51522143	51522143	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:51522143C>A	uc001vfa.4	+	7	1036	c.637C>A	c.(637-639)Cat>Aat	p.H213N	RNASEH2B_uc001vfb.4_Missense_Mutation_p.H213N	NM_024570	NP_078846	Q5TBB1	RNH2B_HUMAN	Homo sapiens ribonuclease H2, subunit B (RNASEH2B), transcript variant 1, mRNA.	213					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		TCGTTATGCCCATGGTCTGAT	0.308000														173			43		4.00472e-15	4.02328e-15	1	1	0
UNC79	57578	broad.mit.edu	37	14	94088532	94088532	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94088532G>A	uc001ybv.1	+	27	4571	c.4488G>A	c.(4486-4488)acG>acA	p.T1496T	UNC79_uc001ybs.1_Silent_p.T1474T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1651						integral to membrane		p.T1495T(1)		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						AAGAGGAGACGATGAACCAAG	0.552000														91			35		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189868140	189868140	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189868140C>T	uc002uqj.1	+	36	2674	c.2557C>T	c.(2557-2559)Cct>Tct	p.P853S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	853	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CATATAGGGTCCTCCTGGTCC	0.383000														43			14		0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39998532	39998532	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39998532C>T	uc002olx.2	+	7	1794	c.1736C>T	c.(1735-1737)gCt>gTt	p.A579V	DLL3_uc002olw.2_Missense_Mutation_p.A579V	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA.	579					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTCATATCTGCTCCTTCCATC	0.547000														58			17		0	0	1	0	0
POMC	5443	broad.mit.edu	37	2	25384191	25384191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:25384191C>T	uc002rfy.1	-	3	826	c.563G>A	c.(562-564)gGa>gAa	p.G188E	POMC_uc002rfz.1_Missense_Mutation_p.G188E|POMC_uc002rga.1_Missense_Mutation_p.G188E	NM_001035256	NP_001030333	P01189	COLI_HUMAN	Homo sapiens proopiomelanocortin (POMC), transcript variant 1, mRNA.	188					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GGGGCCATCTCCCTCCCGGAG	0.706000														8			6		0	0	1	0	0
HV303528	0	broad.mit.edu	37	10	90762815	90762815	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:90762815C>T	uc021pvy.1	-	1		c.1_splice	c.e1-1		FAS_uc010qna.2_Non-coding_Transcript|FAS_uc001kfr.3_Silent_p.S20S|FAS_uc001kft.3_Silent_p.S20S|FAS_uc010qnb.2_Non-coding_Transcript|FAS_uc001kfs.3_Silent_p.S20S|FAS_uc010qnc.2_Non-coding_Transcript|FAS_uc010qnd.2_Non-coding_Transcript|FAS_uc010qne.2_Non-coding_Transcript|FAS_uc001kfw.3_Silent_p.S20S|FAS_uc009xtp.3_Non-coding_Transcript					JP 2009535045-A/352: Short interfering ribonucleic acid (siRNA) for oral administration.																		GATTATCGTCCAAAAGTGTTA	0.398000														66			24		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20618815	20618815	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:20618815G>A	uc003gpr.1	+	34	4334	c.4130G>A	c.(4129-4131)gGa>gAa	p.G1377E	SLIT2_uc003gps.1_Missense_Mutation_p.G1369E	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1377					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCTTGCCTTGGAAATAAGTAA	0.567000														59			9		0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225688361	225688361	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:225688361G>A	uc010fwz.1	-	27	3279	c.3040C>T	c.(3040-3042)Ccc>Tcc	p.P1014S	DOCK10_uc002vob.2_Missense_Mutation_p.P1008S	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1014							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGAGGCCGGGGAAGCTAAGGA	0.368000														76			26		0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101178079	101178079	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:101178079T>A	uc003yjh.2	+	2	264	c.178T>A	c.(178-180)Ttt>Att	p.F60I	SPAG1_uc003yjg.1_Missense_Mutation_p.F60I|SPAG1_uc003yji.2_Missense_Mutation_p.F60I	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	60					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ACTTACAGAATTTTGTGAAAA	0.398000														69			20		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81664975	81664975	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:81664975G>A	uc021ssk.1	-	1	193	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	TMC3_uc021ssj.1_Missense_Mutation_p.R65C|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.R65C	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	65						integral to membrane		p.R65H(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGTCTGCAGCGAATGTTTGCC	0.463000														135			35		0	0	1	0	0
GGT8P	645367	broad.mit.edu	37	2	91968524	91968524	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:91968524C>T	uc010fho.1	+	1		c.855C>T								Homo sapiens gamma-glutamyltransferase 8 pseudogene (GGT8P), non-coding RNA.																		CTCGCCTCTTCCAGCCCAGCA	0.677000														24			17		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48428946	48428946	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48428946G>A	uc001jfb.3	-	1	1368	c.940C>T	c.(940-942)Cac>Tac	p.H314Y	GDF10_uc009xnp.3_Missense_Mutation_p.H313Y|GDF10_uc009xnq.2_Missense_Mutation_p.H314Y	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	314					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.A313S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TGCTGTGCGTGGGCGCGCGGC	0.716000														14			9		0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55794837	55794837	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55794837C>T	uc010spl.2	+	0	525	c.525C>T	c.(523-525)ttC>ttT	p.F175F		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTGACCATTTCATCTGTGATT	0.438000														276			79		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83591047	83591047	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:83591047C>T	uc003uhz.3	-	16	2271	c.1956G>A	c.(1954-1956)gtG>gtA	p.V652V		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	652	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACCCATGTTCCACCGCATGGC	0.438000														82			28		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130284070	130284070	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130284070C>T	uc010htl.3	+	2	925	c.894C>T	c.(892-894)aaC>aaT	p.N298N		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	298	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATATACAGAACCTTTCTCCCC	0.478000														84			19		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125083791	125083792	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:125083791_125083792GG>AA	uc003yqw.3	+	30	4217_4218	c.4011_4012GG>AA	c.(4009-4014)gaggac>gaAAac	p.D1338N	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1338						integral to membrane		p.E1337Q(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTAGCTCTGAGGACAGCGGGCA	0.510000														39			16		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139629193	139629193	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:139629193C>T	uc003yvd.3	-	53	4281	c.3834G>A	c.(3832-3834)aaG>aaA	p.K1278K	COL22A1_uc011ljo.2_Silent_p.K558K	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1278	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGTGTGTCCCTTGAAGCCCT	0.587000										HNSCC(7;0.00092)				69			15		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39442854	39442854	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39442854G>A	uc003xni.3	+	1	170	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	ADAM18_uc003xnh.3_Missense_Mutation_p.E39K|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.E39K	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	39					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AAATGACAGTGAAGTTTCAGA	0.313000														49			25		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159170684	159170684	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159170684G>A	uc001ftl.2	+	8	1348	c.1169G>A	c.(1168-1170)gGg>gAg	p.G390E	CADM3_uc001ftk.2_Missense_Mutation_p.G424E|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	390					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)					CAGTCAGGAGGGGACGACAAG	0.612000														91			17		0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35813759	35813759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:35813759C>T	uc003anu.4	+	12	1707	c.1613C>T	c.(1612-1614)aCt>aTt	p.T538I	MCM5_uc003anv.4_Missense_Mutation_p.T495I|MCM5_uc003anw.1_Missense_Mutation_p.T322I	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	538					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CATGTCATCACTCTGCACGTG	0.577000														106			51		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111979231	111979231	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:111979231G>A	uc004bdz.1	-	15	1899	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	535						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAGTTTGGGGACCTCAGAGG	0.582000														165			44		0	0	1	0	0
EDN1	1906	broad.mit.edu	37	6	12294197	12294197	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:12294197G>A	uc003nae.4	+	2	591	c.257G>A	c.(256-258)gGa>gAa	p.G86E	EDN1_uc003nad.3_Missense_Mutation_p.G86E|EDN1_uc003naf.4_Missense_Mutation_p.G85E	NM_001955	NP_001946	P05305	EDN1_HUMAN	Homo sapiens endothelin 1 (EDN1), transcript variant 1, mRNA.	86					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of JUN kinase activity|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TATGGACTTGGAAGCCCTAGG	0.408000														55			14		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124989729	124989729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:124989729C>T	uc003yqw.3	+	9	1149	c.943C>T	c.(943-945)Cct>Tct	p.P315S		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	315	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGAAATGTTCCCTCCCTTGTG	0.498000														83			33		0	0	1	0	0
Mir_422	0	broad.mit.edu	37	15	64163163	64163163	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:64163163G>A	uc021sov.1	-	0		c.56C>T								Rfam model RF01030 hit found at contig region AC015914.8/92261-92350																		gggacagagagcccatctgca	0.547000														143			8		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739263	55739263	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55739263G>A	uc003pcq.3	-	0	1113	c.401C>T	c.(400-402)cCt>cTt	p.P134L	BMP5_uc011dxf.2_Missense_Mutation_p.P134L	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	134					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GGTGGTCAGAGGAGTCGTCCG	0.512000														92			24		0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46181175	46181175	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46181175C>T	uc002pcu.1	+	10	1035	c.936C>T	c.(934-936)ctC>ctT	p.L312L	GIPR_uc002pct.1_Silent_p.L312L|GIPR_uc010xxp.1_Silent_p.L276L|GIPR_uc010xxq.1_Non-coding_Transcript|MIR642B_uc021uvy.1_5'Flank	NM_000164	NP_000155	P48546	GIPR_HUMAN	Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA.	312					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TTAATTTCCTCATTTTTATCC	0.567000														81			22		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442096	103442096	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:103442096G>A	uc001ymi.1	-	10	1664	c.1432C>T	c.(1432-1434)Ctc>Ttc	p.L478F		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	478					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GAATTGCTGAGGGCCCGAGAT	0.517000														222			14		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2026901	2026901	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2026901G>A	uc003wpx.4	+	11	1487	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	450	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTTTTTGAAGGAAGGTCTTAC	0.507000														200			99		0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44951664	44951664	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:44951664G>A	uc003coc.4	+	10	1483	c.1410G>A	c.(1408-1410)gaG>gaA	p.E470E		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	470					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTGTAAAAGAGAACTTTCTTC	0.478000														68			34		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602718	96602719	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96602718_96602719CC>TT	uc010qnz.2	+	6	1086_1087	c.1086_1087CC>TT	c.(1084-1089)atcccc>atTTcc	p.P363S	CYP2C19_uc010qny.2_Missense_Mutation_p.P341S	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	363					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TCGACCTCATCCCCACCAGCCT	0.535000														139			44		0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88249327	88249327	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:88249327C>T	uc003ydy.2	+	5	806	c.758C>T	c.(757-759)tCa>tTa	p.S253L		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	253										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TACCTACCTTCATATGACTCA	0.383000														40			19		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100508335	100508335	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:100508335C>T	uc003dun.3	-	23	2077	c.1992G>A	c.(1990-1992)gtG>gtA	p.V664V	ABI3BP_uc003duj.3_Silent_p.V219V|ABI3BP_uc003duk.3_Silent_p.V348V|ABI3BP_uc003dul.3_Silent_p.V469V|ABI3BP_uc011bhd.2_Silent_p.V618V|ABI3BP_uc003dum.3_Silent_p.V50V	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	664	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTCTGGGCCTCACAGTAGTAT	0.423000														6			4		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37724314	37724314	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:37724314G>A	uc004aag.1	+	6	653	c.609G>A	c.(607-609)gtG>gtA	p.V203V	FRMPD1_uc004aah.1_Silent_p.V203V|FRMPD1_uc011lqm.2_Silent_p.V25V|FRMPD1_uc011lqn.2_Silent_p.V72V	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	203	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACACAACCGTGAAGGTATTAA	0.463000														44			7		0	0	1	0	0
IFNA22P	3453	broad.mit.edu	37	9	21278221	21278221	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21278221G>A	uc003zou.1	-	0		c.342C>T								Homo sapiens interferon, alpha 22, pseudogene (IFNA22P), non-coding RNA.																		ATTCCTCAGGGGAGTCTCTTC	0.458000														192			20		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7691433	7691433	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7691433C>T	uc002giu.1	+	42	6785	c.6771C>T	c.(6769-6771)ttC>ttT	p.F2257F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2257	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AACGCATGTTCGAAAAGCTCA	0.542000														27			10		0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322321	5322321	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5322321G>A	uc010qza.2	-	0	856	c.856C>T	c.(856-858)Cct>Tct	p.P286S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAATGATAGGATTCACGAAT	0.428000														69			13		0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095248	145095248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145095248C>T	uc011lkw.2	+	1	752	c.650C>T	c.(649-651)cCc>cTc	p.P217L	SPATC1_uc011lkx.2_Missense_Mutation_p.P217L	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	217										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGCCAACCCCATGAGCAAC	0.682000														62			14		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534248	92534248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92534248C>T	uc001pdj.4	+	8	8086	c.8069C>T	c.(8068-8070)tCc>tTc	p.S2690F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2690	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTAAAGCACTCCCTCATTCCT	0.448000										TCGA Ovarian(4;0.039)				35			14		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11302032	11302032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:11302032G>A	uc010hdr.3	+	1	1651	c.1309G>A	c.(1309-1311)Gtc>Atc	p.V437I	HRH1_uc010hds.3_Missense_Mutation_p.V437I|HRH1_uc010hdt.3_Missense_Mutation_p.V437I|HRH1_uc003bwb.4_Missense_Mutation_p.V437I|HRH1_uc021wtb.1_Missense_Mutation_p.V437I	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	437					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CTTCTTCATGGTCATTGCCTT	0.488000														240			79		0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397806	125397806	+	Missense_Mutation	SNP	G	A	A	rs143365567		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:125397806G>A	uc001ugs.4	-	1	970	c.512C>T	c.(511-513)cCc>cTc	p.P171L	UBC_uc001ugr.3_5'Flank|UBC_uc001ugt.3_Missense_Mutation_p.P171L|UBC_uc001ugu.1_Missense_Mutation_p.P171L|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.P171L|UBC_uc001ugw.3_Missense_Mutation_p.P19L	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	171	Ubiquitin-like 3.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGTGTCACTGGGCTCCACCTC	0.517000														198			24		0	0	1	0	0
S1PR3	1903	broad.mit.edu	37	9	91617111	91617111	+	Silent	SNP	C	T	T	rs138808274		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:91617111C>T	uc022bjm.1	+	0	996	c.996C>T	c.(994-996)ctC>ctT	p.L332L	S1PR3_uc004aqe.3_Silent_p.L332L	NM_005226	NP_005217	Q99500	S1PR3_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA.	332					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						AGCCTGCGCTCGACCCAAGCA	0.632000														44			12		0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103550824	103550824	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:103550824G>A	uc001ktv.2	-	13	2726	c.2283C>T	c.(2281-2283)tcC>tcT	p.S761S	MGEA5_uc001ktu.2_Non-coding_Transcript|MGEA5_uc010qqe.1_Silent_p.S708S|MGEA5_uc009xws.2_Silent_p.S694S	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	761	Histone acetyltransferase activity (By similarity).|Required for histone H4 binding (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)		CCAGGCTGAGGGAAAGCAGCC	0.423000														73			37		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121008491	121008491	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121008491C>T	uc010rzo.2	+	9	3303	c.3303C>T	c.(3301-3303)atC>atT	p.I1101I		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1101	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTCCTGCATCGTCTCAGGCT	0.587000														30			20		0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45817476	45817476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:45817476G>A	uc011bai.2	-	3	483	c.359C>T	c.(358-360)cCc>cTc	p.P120L	SLC6A20_uc011baj.2_Missense_Mutation_p.P120L	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	120					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCACGGCAGGGGATCCTGTGG	0.582000														60			33		0	0	1	0	0
BOLL	66037	broad.mit.edu	37	2	198593232	198593232	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:198593232C>T	uc002uuu.1	-	11	1358	c.979G>A	c.(979-981)Gat>Aat	p.D327N	BC021693_uc002uup.3_Intron|BOLL_uc002uur.2_3'UTR|BOLL_uc002uus.2_3'UTR|BOLL_uc002uut.2_3'UTR|BOLL_uc010zha.1_3'UTR	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA.	46					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	RNA binding|nucleotide binding|protein binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ACGCAAGGATCATTGGACAAG	0.423000														47			19		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78594328	78594328	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:78594328C>T	uc001syp.3	+	37	6964	c.6791C>T	c.(6790-6792)tCt>tTt	p.S2264F	NAV3_uc001syo.3_Missense_Mutation_p.S2242F|NAV3_uc010sub.2_Missense_Mutation_p.S1721F|NAV3_uc009zsf.3_Missense_Mutation_p.S1073F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2264						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						TGGAACTATTCTTTAGTACCT	0.338000										HNSCC(70;0.22)				69			36		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19752827	19752827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19752827G>A	uc002nnd.3	-	2	255	c.138C>T	c.(136-138)ctC>ctT	p.L46L	GMIP_uc010xrb.2_Silent_p.L46L|GMIP_uc010xrc.2_Silent_p.L46L	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	46					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGTCTTCTGAGAGTAGAGGGT	0.582000														25			10		0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67354558	67354558	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67354558G>A	uc002esu.2	-	1	285	c.234C>T	c.(232-234)tcC>tcT	p.S78S	KCTD19_uc002est.2_5'UTR|KCTD19_uc010vjj.1_5'UTR	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	78						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCACAACTGGAGAAGGAGA	0.478000														101			9		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13701487	13701487	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13701487C>T	uc003jfd.2	-	76	13439	c.13397G>A	c.(13396-13398)aGc>aAc	p.S4466N	DNAH5_uc003jfc.2_Missense_Mutation_p.S634N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4466					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)					GGTAAACTGGCTGTTTCTTTC	0.393000									Kartagener syndrome					115			18		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18691869	18691869	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:18691869C>T	uc001bau.2	+	5	1076	c.693C>T	c.(691-693)ctC>ctT	p.L231L	IGSF21_uc001bav.2_Silent_p.L52L	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	231						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CACTGTCCCTCCTGGACGCCG	0.652000														111			40		0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26204076	26204076	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:26204076G>A	uc002rgu.2	-	0	1368	c.711C>T	c.(709-711)atC>atT	p.I237I	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Silent_p.I237I	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	237	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCCACTCGGATGTGGTCCT	0.627000														47			27		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063593	9063593	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9063593C>T	uc002mkp.3	-	2	24057	c.23853G>A	c.(23851-23853)agG>agA	p.R7951R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7953	Ser-rich.|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						CAGGACCCCTCCTCATAAGAG	0.463000														63			7		0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20107104	20107104	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:20107104G>A	uc001bcn.3	-	3	390	c.148C>T	c.(148-150)Ctg>Ttg	p.L50L	TMCO4_uc001bco.1_Silent_p.L50L|TMCO4_uc001bcp.1_Silent_p.L50L|TMCO4_uc009vpn.1_Silent_p.L50L|TMCO4_uc001bcq.1_Silent_p.L50L	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	50						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AACTGGGACAGGGAGATGCCA	0.592000														37			11		0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478466	14478466	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:14478466C>T	uc010xai.2	-	2		c.1098G>A								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		TCGTATTTTTCTTCTCTGCGC	0.438000														7			6		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90119263	90119263	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:90119263C>T	uc003kju.3	+	75	16314	c.16218C>T	c.(16216-16218)gtC>gtT	p.V5406V	GPR98_uc003kjt.3_Silent_p.V3112V|GPR98_uc003kjw.3_Silent_p.V1067V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5406					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGTCAAGGTCTTTTGGCGAG	0.463000														59			24		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62329911	62329911	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62329911G>A	uc001dab.3	+	20	2554	c.2440_splice	c.e20-1	p.G814_splice	INADL_uc009waf.1_Splice_Site_p.G814_splice|INADL_uc001daa.2_Splice_Site_p.G814_splice|INADL_uc001dad.3_Splice_Site_p.G511_splice|INADL_uc001dac.3_Splice_Site	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	814					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TATTTATAGGGATTTAGAGAT	0.358000														71			11		0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40312406	40312406	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:40312406C>T	uc002hzb.2	-	15	3039	c.2706G>A	c.(2704-2706)cgG>cgA	p.R902R		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	902					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCATGATGTGCCGCAGCTCCC	0.592000														34			16		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219294035	219294035	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219294035G>A	uc002vib.3	+	5	617	c.595G>A	c.(595-597)Gac>Aac	p.D199N	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.D199N|VIL1_uc002vic.1_Missense_Mutation_p.D199N	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	199	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.R198*(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGATCCGAGACCAGGAGCG	0.617000														76			34		0	0	1	0	0
C9orf43	257169	broad.mit.edu	37	9	116175776	116175776	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116175776G>A	uc004bhp.3	+	1	449	c.3G>A	c.(1-3)atG>atA	p.M1I	POLE3_uc011lxg.1_5'Flank|POLE3_uc004bhn.2_5'Flank|C9orf43_uc004bho.4_Missense_Mutation_p.M1I	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	Homo sapiens chromosome 9 open reading frame 43 (C9orf43), mRNA.	1										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TTCTAGCTATGGACTTGCCAG	0.498000														27			17		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53809900	53809900	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:53809900G>A	uc002acj.2	-	19	3347	c.3305C>T	c.(3304-3306)tCt>tTt	p.S1102F	WDR72_uc010bfh.1_Non-coding_Transcript	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	1102										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTCCATTTAAGACACCTTGCA	0.368000														99			37		0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122287651	122287651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122287651C>T	uc003efk.3	+	2	804	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	DTX3L_uc010hrj.3_Intron|DTX3L_uc021xdb.1_Missense_Mutation_p.P75S	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA.	239					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		TTTTGAAGTTCCCTTGCCTTA	0.398000														56			22		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14852240	14852240	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:14852240C>T	uc010dlo.2	+	35	4120	c.3940C>T	c.(3940-3942)Cga>Tga	p.R1314*	ANKRD30B_uc021uhy.1_Nonsense_Mutation_p.R1314*|ANKRD30B_uc010xal.1_Nonsense_Mutation_p.R456*	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1399										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAGGTGGCTTCGACAGCAATT	0.348000														4			3		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814408	106814408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:106814408G>A	uc003ymd.3	+	7	2121	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	ZFPM2_uc011lhs.2_Missense_Mutation_p.E431K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	700					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGCCGGCACGAAACATACAT	0.488000														27			13		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048907	143048907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143048907C>T	uc003wcr.1	+	22	2903	c.2816C>T	c.(2815-2817)cCt>cTt	p.P939L	CLCN1_uc011ktc.1_Missense_Mutation_p.P551L	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	939					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCAGAGCCCCCTCTCTCCCTG	0.647000														48			25		0	0	1	0	0
CPLX3	594855	broad.mit.edu	37	15	75122542	75122542	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:75122542G>A	uc002ayu.1	+	2	1552	c.324G>A	c.(322-324)atG>atA	p.M108I		NM_001030005	NP_001025176	Q8WVH0	CPLX3_HUMAN	Homo sapiens complexin 3 (CPLX3), mRNA.	108						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						TGGCCAAGATGATCGAGGAGG	0.622000														95			19		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588852	140588852	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140588852G>A	uc003liz.3	+	0	562	c.373G>A	c.(373-375)Gat>Aat	p.D125N	PCDHB12_uc011dak.2_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	125	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGTCAGGGATATAAATGA	0.443000														143			61		0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58330267	58330267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:58330267G>A	uc002yau.3	+	3	856	c.389G>A	c.(388-390)gGa>gAa	p.G130E	PHACTR3_uc002yat.3_Missense_Mutation_p.G127E|PHACTR3_uc010zzw.2_Missense_Mutation_p.G89E|PHACTR3_uc002yav.3_Missense_Mutation_p.G89E|PHACTR3_uc002yaw.3_Missense_Mutation_p.G89E|PHACTR3_uc002yax.3_Missense_Mutation_p.G89E	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	130						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AACCCCGATGGAGGACCCCGA	0.577000														49			16		0	0	1	0	0
IGFL2	147920	broad.mit.edu	37	19	46663672	46663672	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46663672C>T	uc002peb.3	+	3	344	c.53_splice	c.e3-1	p.A18_splice	IGFL2_uc010xxv.2_Splice_Site_p.A7_splice	NM_001002915	NP_001002915	Q6UWQ7	IGFL2_HUMAN	Homo sapiens IGF-like family member 2 (IGFL2), transcript variant 1, mRNA.	7						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TCTCTCCCAGCTCCTGCTTAT	0.542000														18			5		0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176982006	176982006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:176982006C>T	uc002ukj.3	+	0	515	c.445C>T	c.(445-447)Cct>Tct	p.P149S		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	149						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GGTTCCCGTCCCTGGATATTT	0.537000														167			62		0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116937852	116937852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:116937852C>T	uc001ege.3	+	12	2120	c.1781C>T	c.(1780-1782)cCt>cTt	p.P594L	ATP1A1_uc010owv.1_Missense_Mutation_p.P563L|ATP1A1_uc010oww.2_Missense_Mutation_p.P594L|ATP1A1_uc010owx.2_Missense_Mutation_p.P563L|ATP1A1OS_uc009whb.2_Intron	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	594					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	ATGATTGACCCTCCACGGGCG	0.522000														130			16		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29005439	29005439	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29005439C>T	uc001usb.3	-	6	1107	c.822G>A	c.(820-822)aaG>aaA	p.K274K	FLT1_uc010aar.1_Silent_p.K274K|FLT1_uc001usc.3_Silent_p.K274K|FLT1_uc010tdp.1_Silent_p.K274K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	274	Ig-like C2-type 3.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CGGAAGCTCTCTTATTTTTCT	0.338000														41			21		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314322	54314322	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54314322C>T	uc002qcj.4	-	2	811	c.591G>A	c.(589-591)gaG>gaA	p.E197E	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.E197E|NLRP12_uc002qci.4_Silent_p.E197E|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.E197E	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	197					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAAAGAGGGTCTCTATCTTGA	0.637000														112			7		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61424021	61424021	+	Missense_Mutation	SNP	C	T	T	rs145829924		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61424021C>T	uc010qig.1	-	3	849	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	134					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CCTCGGCGATCGTCAAAATAC	0.393000														53			27		0	0	1	0	0
PRPF31	26121	broad.mit.edu	37	19	54627968	54627968	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54627968C>T	uc002qdh.2	+	7	1184	c.788C>T	c.(787-789)tCg>tTg	p.S263L	PRPF31_uc010yek.1_Missense_Mutation_p.S263L|PRPF31_uc021vbi.1_Missense_Mutation_p.S263L	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	263	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP|nuclear speck	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCGGGCTTCTCGTCTACCTCA	0.672000														56			40		0	0	1	0	0
EVX2	344191	broad.mit.edu	37	2	176948363	176948363	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:176948363G>A	uc010zeu.2	-	0	328	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	48						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GGGCTTAGGCGAGCCGGGTGC	0.607000														53			12		0	0	1	0	0
COPS7B	64708	broad.mit.edu	37	2	232672238	232672238	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:232672238C>T	uc002vsh.1	+	7	834	c.731C>T	c.(730-732)cCt>cTt	p.P244L	COPS7B_uc010fxy.1_Silent_p.S192S|COPS7B_uc002vsg.1_Silent_p.S226S|COPS7B_uc002vsi.1_Silent_p.S119S|COPS7B_uc002vsj.1_Non-coding_Transcript|COPS7B_uc002vsk.1_Silent_p.S119S			Q9H9Q2	CSN7B_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) (COPS7B), mRNA.	0					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCGCATCCTCCTCGGCTCAGG	0.547000														37			13		0	0	1	0	0
AGMAT	79814	broad.mit.edu	37	1	15905504	15905504	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:15905504C>T	uc001awv.2	-	3	713	c.570G>A	c.(568-570)acG>acA	p.T190T	DNAJC16_uc001awu.3_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.	190					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTGTCGGTCGTGTCCGTGT	0.642000														46			15		0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12090106	12090106	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12090106C>T	uc001ato.2	+	7	1260	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA.	289										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CGCTGTCGATCCTGGAGCCCC	0.682000														52			18		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178585872	178585872	+	Silent	SNP	G	A	A	rs149253571		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178585872G>A	uc003mjw.3	-	5	1086	c.984C>T	c.(982-984)agC>agT	p.S328S	ADAMTS2_uc011dgm.2_Silent_p.S328S	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	328	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCTCGATGAGGCTCATGGACT	0.612000														26			8		0	0	1	0	0
DDX54	79039	broad.mit.edu	37	12	113603608	113603608	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113603608G>A	uc001tuq.4	-	13	1673	c.1645_splice	c.e13+1	p.S549_splice	DDX54_uc001tup.3_Splice_Site_p.S549_splice	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	549					RNA processing|estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|estrogen receptor binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGGACTCACTGAAGAGGGGGT	0.642000														29			10		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183721183	183721183	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:183721183C>T	uc003ivd.1	+	26	7854	c.7779C>T	c.(7777-7779)ttC>ttT	p.F2593F		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2593					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CGCGCAGGTTCGCGGACGTGG	0.692000														6			8		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141052202	141052202	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:141052202G>A	uc003llm.3	-	8	1380	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	ARAP3_uc011dbe.2_Silent_p.I96I|ARAP3_uc003lln.3_Silent_p.I356I|ARAP3_uc003llo.1_Silent_p.I434I	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	434	PH 2.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CGATGAAGCAGATCCCGATGC	0.642000														31			19		0	0	1	0	0
PHYHIP	9796	broad.mit.edu	37	8	22079094	22079094	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:22079094G>A	uc003xbk.4	-	5	1459	c.765C>T	c.(763-765)ccC>ccT	p.P255P	PHYHIP_uc003xbj.4_Silent_p.P255P	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.	255										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TGTCCAGGAGGGGCAGGCGGT	0.622000														40			14		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140782717	140782717	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140782717C>T	uc003lkh.2	+	0	198	c.198C>T	c.(196-198)atC>atT	p.I66I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.I66I	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	66	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L66S(1)		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)			GAGTCCGCATCGTCTCTAGAG	0.612000														86			40		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189068185	189068185	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:189068185G>A	uc003izm.1	+	5	1181	c.1066G>A	c.(1066-1068)Ggc>Agc	p.G356S	TRIML1_uc003izn.1_Missense_Mutation_p.G80S	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	356	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GTGGGAAGTGGGCATCTGCAA	0.517000														68			16		0	0	1	0	0
LGALS13	29124	broad.mit.edu	37	19	40097942	40097942	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40097942G>A	uc002omb.3	+	3	423	c.383G>A	c.(382-384)aGa>aAa	p.R128K		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.	128	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CAAGTGTCGAGAGATATCTCC	0.463000														97			10		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072451	17072451	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17072451C>T	uc002zlp.1	-	0	1250	c.990G>A	c.(988-990)ttG>ttA	p.L330L		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	330					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAGGTGTGTCCAACACCTCAC	0.567000														146			48		0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899773	156899773	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156899773C>T	uc003lwx.4	+	5	1322	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Silent_p.F383F	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	402						integral to membrane	receptor activity	p.F340L(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TGGGCGTGTTCATGCTGCATG	0.547000														39			15		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22927561	22927561	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22927561G>A	uc001bfx.1	+	14	2834	c.2709G>A	c.(2707-2709)agG>agA	p.R903R		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	903						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGAGTCTCAGGGCCACCGCCA	0.637000														45			25		0	0	1	0	0
C10orf107	219621	broad.mit.edu	37	10	63519931	63519931	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:63519931G>A	uc010qik.2	+	4	708	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_173554	NP_775825	Q8IVU9	CJ107_HUMAN	Homo sapiens chromosome 10 open reading frame 107 (C10orf107), mRNA.	135								p.T134A(1)		breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					ATTGGATACGGAAATGAAGGT	0.383000														70			18		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	25474	25474	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000209.1:25474G>A	uc002qts.2	+	2	220	c.191G>A	c.(190-192)gGg>gAg	p.G64E	KIR2DL2_uc002qtt.2_Missense_Mutation_p.G64E	NM_014219	NP_055034	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 (KIR2DL2), mRNA.	64	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										CACAGAGAAGGGAAGTTTAAG	0.527000														67			83		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74452007	74452007	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74452007C>T	uc002sko.1	-	23	3256	c.3254G>A	c.(3253-3255)aGg>aAg	p.R1085K	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.R1069K|SLC4A5_uc010ffc.1_Missense_Mutation_p.R988K|SLC4A5_uc002skp.1_Missense_Mutation_p.R967K|SLC4A5_uc002sks.1_Missense_Mutation_p.G977R	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	1085						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTTTCTCTTCCTCTTCTTGTC	0.502000														151			50		0	0	1	0	0
BC039356	0	broad.mit.edu	37	1	227618464	227618464	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:227618464C>T	uc001hqv.3	+	3		c.1699C>T								Homo sapiens cDNA clone IMAGE:5270051.																		AGTACAAGATCCCGGACTGGT	0.488000														18			7		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31523087	31523087	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:31523087G>A	uc010dmi.3	-	8	1782	c.1484C>T	c.(1483-1485)tCa>tTa	p.S495L	NOL4_uc010xbs.2_Missense_Mutation_p.S210L|NOL4_uc002kxr.4_Missense_Mutation_p.S267L|NOL4_uc010xbt.2_Missense_Mutation_p.S421L|NOL4_uc010dmh.3_Missense_Mutation_p.S357L|NOL4_uc010xbu.2_Missense_Mutation_p.S431L|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Missense_Mutation_p.S180L	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	495						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						CTCACAAGCTGAAGCCAAGAT	0.423000														81			20		0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66975410	66975410	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:66975410C>T	uc002eqr.3	+	7	2108	c.1108_splice	c.e7-1	p.P370_splice	CES2_uc002eqq.3_Splice_Site_p.P370_splice|CES2_uc002eqs.3_Splice_Site_p.P213_splice	NM_003869	NP_003860	O00748	EST2_HUMAN	Homo sapiens carboxylesterase 2 (CES2), transcript variant 1, mRNA.	306					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		TCCCCTCAGCCTTTCAAGATG	0.572000														49			22		0	0	1	0	0
B3GNT2	10678	broad.mit.edu	37	2	62449618	62449618	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:62449618C>T	uc021vii.1	+	0	263	c.263C>T	c.(262-264)tCc>tTc	p.S88F	B3GNT2_uc002sbs.3_Missense_Mutation_p.S88F	NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 (B3GNT2), mRNA.	88						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GGCAGGCTCTCCAATATAAGC	0.547000														404			163		0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282579	69282579	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:69282579G>A	uc004dxu.1	+	0	239	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	69										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GTTCCAAGACGACAGTAGCAT	0.547000														8			12		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104641701	104641701	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:104641701G>A	uc001yos.4	+	11	2576	c.2576G>A	c.(2575-2577)gGa>gAa	p.G859E		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	859					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGTCCCTCAGGAGGTCCAGGT	0.711000														18			9		0	0	1	0	0
IL15RA	3601	broad.mit.edu	37	10	6008124	6008124	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:6008124G>A	uc021pmo.1	-	2	539	c.525C>T	c.(523-525)ccC>ccT	p.P175P	IL15RA_uc010qau.2_Silent_p.P89P|IL15RA_uc021pmp.1_Intron|IL15RA_uc001iiv.3_Silent_p.P89P|IL15RA_uc001iiw.3_Silent_p.P53P|IL15RA_uc001iiy.3_Intron	NM_001243539	NP_001230468	Q13261	I15RA_HUMAN	Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA.	89					cell proliferation	Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						ATTTGAGACTGGGGGTTGTCC	0.572000														36			8		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113376321	113376321	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:113376321G>A	uc003eam.3	-	6	4619	c.4208C>T	c.(4207-4209)cCa>cTa	p.P1403L	KIAA2018_uc003eal.3_Missense_Mutation_p.P1347L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1403					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GTTACTAGGTGGAAATAATCG	0.463000														58			16		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135757541	135757541	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:135757541G>A	uc002tue.1	-	3	311	c.280C>T	c.(280-282)Caa>Taa	p.Q94*	YSK4_uc010fne.1_Nonsense_Mutation_p.Q66*|YSK4_uc002tuf.1_Nonsense_Mutation_p.Q94*|YSK4_uc010fnc.1_Nonsense_Mutation_p.Q94*|YSK4_uc010fnd.1_Intron|YSK4_uc010zbg.1_Nonsense_Mutation_p.Q94*|YSK4_uc002tui.4_Nonsense_Mutation_p.Q111*	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	94							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTCATTTCTTGGGGAGGACTG	0.363000														104			9		0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18893760	18893760	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18893760C>T	uc002nke.3	-	18	2275	c.2239G>A	c.(2239-2241)Gag>Aag	p.E747K	COMP_uc002nkd.3_Missense_Mutation_p.E714K|COMP_uc010xqj.2_Missense_Mutation_p.E694K	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	747	Mediates cell survival and induction of the IAP family of survival proteins.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCATAGTCCTCTGGGATGGTG	0.697000														83			19		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49168441	49168441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:49168441C>T	uc001ngy.3	-	18	2381	c.2120G>A	c.(2119-2121)gGa>gAa	p.G707E	FOLH1_uc001ngx.3_Missense_Mutation_p.E107K|FOLH1_uc009yly.3_Missense_Mutation_p.G692E|FOLH1_uc009ylz.3_Missense_Mutation_p.G661E|FOLH1_uc001ngz.3_Missense_Mutation_p.G676E|FOLH1_uc009yma.3_Missense_Mutation_p.G399E	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	707					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATCATAAATTCCTGGGAATGA	0.443000														62			44		0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44013158	44013158	+	Missense_Mutation	SNP	C	T	T	rs144036424		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:44013158C>T	uc002lcb.1	+	1	118	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	RNF165_uc002lby.1_5'UTR|RNF165_uc010dnn.1_Intron	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	23							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		TCCAGGTGCCCCCTTTCAAAG	0.677000														22			13		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135561040	135561040	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:135561040C>T	uc003lbn.2	-	9	2487	c.2265G>A	c.(2263-2265)aaG>aaA	p.K755K	TRPC7_uc010jef.2_Silent_p.K691K|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.K306K|TRPC7_uc010jeh.2_Silent_p.K694K|TRPC7_uc010jei.2_Silent_p.K639K	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	755					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTAGCGAGTCTTCTGGATAA	0.453000														18			4		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20422911	20422911	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20422911C>T	uc002dhe.3	+	1	252	c.105C>T	c.(103-105)atC>atT	p.I35I	ACSM5_uc002dhd.1_Silent_p.I35I	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	35					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTCAGAAGATCGTGGCCACCT	0.582000														37			15		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86340354	86340354	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:86340354C>T	uc001dlj.3	-	34	3191	c.3116G>A	c.(3115-3117)gGa>gAa	p.G1039E	COL24A1_uc001dli.3_Missense_Mutation_p.G175E|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.G339E|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1039	Collagen-like 9.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTCCCCAGTTCCTCCAACACT	0.438000														34			14		0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42989105	42989105	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:42989105C>T	uc021tyh.1	-	4	907	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	GFAP_uc002ihq.3_Missense_Mutation_p.E281K|GFAP_uc002ihr.3_Missense_Mutation_p.E281K|GFAP_uc010wjg.2_Non-coding_Transcript	NM_001242376	NP_001229305	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA.	281	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TCGTTGGCTTCGTGCTTGGCC	0.682000														29			19		0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45637408	45637408	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:45637408C>T	uc003coq.3	+	0	1086	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	Homo sapiens LIM domains containing 1 (LIMD1), mRNA.	346					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		TCTTACCTTTCCAGTTCTGCC	0.612000														73			16		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304075	10304075	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10304075C>T	uc002gmm.2	-	26	3462	c.3367G>A	c.(3367-3369)Gaa>Aaa	p.E1123K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1123					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCGATTTCTTCCCCCAGCTCC	0.522000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					29			34		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	409209	409209	+	Silent	SNP	G	A	A	rs140563600		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:409209G>A	uc001ifp.3	-	20	2610	c.2520C>T	c.(2518-2520)atC>atT	p.I840I	DIP2C_uc009xhi.1_Silent_p.I226I|DIP2C_uc010pzz.1_Silent_p.I161I	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	840						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCACGATCACGATCCTCTCGT	0.647000														42			18		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76712680	76712680	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:76712680C>T	uc003pik.1	-	11	1376	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	416					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGCTGGGGTTCAACAGGAGGA	0.428000														46			5		0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53096708	53096708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53096708G>A	uc001saw.3	-	0	540	c.511C>T	c.(511-513)Ctc>Ttc	p.L171F	KRT77_uc009zmi.3_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	171	Coil 1A.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ttgttgttgagaaccataatc	0.512000														131			45		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62543093	62543093	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:62543093G>A	uc003dll.2	-	9	2100	c.1740C>T	c.(1738-1740)acC>acT	p.T580T	CADPS_uc003dlk.1_Silent_p.T84T|CADPS_uc003dlm.2_Silent_p.T580T|CADPS_uc003dln.2_Silent_p.T580T|CADPS_uc021wzv.1_Silent_p.T580T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	580	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCTGGGGGTCGGTGTAATCCA	0.517000														133			29		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668568	176668568	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176668568G>A	uc001gkz.3	+	7	4243	c.3079G>A	c.(3079-3081)Gag>Aag	p.E1027K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1027					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.D1026G(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACCTTTGATGAGAGGATAGA	0.562000														95			59		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038703	75038703	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75038703C>T	uc001dgg.3	-	13	2910	c.2691G>A	c.(2689-2691)caG>caA	p.Q897Q		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	897	Glu-rich.									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						TCTCTAAACCCTGTTCCCCTT	0.512000														265			85		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108076874	108076874	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108076874G>A	uc003dwz.3	+	5	1283	c.869G>A	c.(868-870)tGg>tAg	p.W290*	HHLA2_uc011bhl.2_Nonsense_Mutation_p.W226*|HHLA2_uc010hpu.3_Nonsense_Mutation_p.W290*|HHLA2_uc003dwy.4_Nonsense_Mutation_p.W290*	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	290	Ig-like V-type 2.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CGATTCTCATGGAACAAAGAG	0.373000														149			63		0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127668815	127668815	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:127668815G>A	uc009yan.3	+	1	203	c.99G>A	c.(97-99)aaG>aaA	p.K33K	FANK1_uc010quk.1_Silent_p.K27K|FANK1_uc001ljh.4_Silent_p.K33K|FANK1_uc001lji.3_Silent_p.K27K	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	33	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				ATCTGGAAAAGAAAGCCAAAC	0.438000														44			32		0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32782259	32782259	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32782259C>T	uc011dqf.1	-	13	2424	c.2302G>A	c.(2302-2304)Ggg>Agg	p.G768R	TAP2_uc003oca.3_Missense_Mutation_p.G161R|TAP2_uc011dqg.1_Missense_Mutation_p.G161R	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										TCCTCCTGCCCATTCAGGAAC	0.532000														164			66		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837370	12837370	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12837370C>T	uc001aui.3	+	2	1107	c.1080C>T	c.(1078-1080)atC>atT	p.I360I		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	360										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGTGGGATCGTGGATTCCC	0.617000														138			50		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4968027	4968027	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4968027G>A	uc010qys.2	-	0	304	c.304C>T	c.(304-306)Cag>Tag	p.Q102*		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	102					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)		AAGAATTCCTGGGCAAAGCAG	0.448000														140			59		0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57135874	57135874	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57135874C>T	uc001nju.3	+	9	1150	c.966C>T	c.(964-966)atC>atT	p.I322I		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	322					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						TCCCCACCATCATCAGCTCTG	0.622000														162			43		0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228679	57228679	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:57228679C>T	uc010lyk.1	-	1	866	c.228G>A	c.(226-228)ggG>ggA	p.G76G	SDR16C5_uc003xsy.1_Silent_p.G76G|SDR16C5_uc010lyl.1_Silent_p.G76G	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	76					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	p.E75K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TTTCCTCATTCCCCTCCTTAT	0.522000														112			17		0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155264273	155264273	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155264273C>T	uc001fkb.4	-	6	1004	c.965_splice	c.e6+1	p.R322_splice	PKLR_uc001fka.4_Splice_Site_p.R291_splice	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	322					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CAAGCCTCACCTCTTCACGCC	0.577000														60			27		0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63221455	63221455	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:63221455C>T	uc002jfe.3	+	17	1946	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	RGS9_uc010dem.3_Silent_p.S578S|RGS9_uc002jfd.3_Silent_p.S578S|RGS9_uc002jfg.3_Silent_p.S352S	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	581					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TGGCTCTGTCCTTCAGCAGGT	0.682000														156			34		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40677882	40677882	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:40677882C>T	uc001rmg.4	+	18	2568	c.2447C>T	c.(2446-2448)tCt>tTt	p.S816F	LRRK2_uc001rmh.1_Missense_Mutation_p.S438F	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	816					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTTGAACCTTCTTGGCTTGGT	0.368000														97			10		0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122774735	122774735	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:122774735G>A	uc001pym.3	+	2	744	c.447G>A	c.(445-447)gaG>gaA	p.E149E	C11orf63_uc001pyl.1_Silent_p.E149E	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	149								p.P148S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CGTTGCCGGAGTCCACGGACA	0.522000														140			55		0	0	1	0	0
EXOSC2	23404	broad.mit.edu	37	9	133576301	133576301	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:133576301G>A	uc004bzu.2	+	5	495	c.474G>A	c.(472-474)acG>acA	p.T158T	EXOSC2_uc011mbz.1_Intron|EXOSC2_uc011mca.1_Intron	NM_014285	NP_055100	Q13868	EXOS2_HUMAN	Homo sapiens exosome component 2 (EXOSC2), mRNA.	158	S1 motif.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|positive regulation of cell growth|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|7S RNA binding|protein binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		CTTTGCACACGAGGAGCCTGA	0.502000											OREG0019548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			23		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64397937	64397937	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64397937G>A	uc021qkw.1	-	18	4156	c.3694C>T	c.(3694-3696)Cga>Tga	p.R1232*	NRXN2_uc021qkx.1_Nonsense_Mutation_p.R1192*|NRXN2_uc001oas.3_Nonsense_Mutation_p.R1192*|NRXN2_uc001oap.3_Nonsense_Mutation_p.R186*|NRXN2_uc001oaq.3_Nonsense_Mutation_p.R899*	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1232	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCGCCGCTTCGAGTGAAGCGC	0.672000														84			27		0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149678054	149678054	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149678054C>T	uc003lrv.2	-	1	1022	c.433G>A	c.(433-435)Gtg>Atg	p.V145M		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	145						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTTGCCCACCATATGGGTG	0.612000														37			16		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41318367	41318367	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:41318367C>T	uc001rmm.1	+	5	522	c.409C>T	c.(409-411)Cct>Tct	p.P137S	CNTN1_uc009zjy.2_Missense_Mutation_p.P137S|CNTN1_uc001rmn.1_Missense_Mutation_p.P126S|CNTN1_uc001rmo.3_Missense_Mutation_p.P137S	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	137	Ig-like C2-type 2.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGATCTTGATCCTTTCCCACC	0.388000														20			9		0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91692774	91692774	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:91692774C>T	uc004aqf.2	-	2	897	c.590G>A	c.(589-591)gGa>gAa	p.G197E		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	197	PID.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CTTGAAGGCTCCCTTCGCACC	0.483000														80			27		0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	56996002	56996002	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:56996002C>T	uc002eki.2	+	0	168	c.111C>T	c.(109-111)ctC>ctT	p.L37L	CETP_uc002ekj.2_Silent_p.L37L	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	37					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						AGCCTGCCCTCCTGGTGTGTA	0.622000														43			12		0	0	1	0	0
FEZ2	9637	broad.mit.edu	37	2	36810533	36810533	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:36810533G>A	uc002rpg.2	-	2	502	c.455C>T	c.(454-456)tCc>tTc	p.S152F	FEZ2_uc002rpf.2_5'UTR|FEZ2_uc002rph.2_Missense_Mutation_p.S152F|FEZ2_uc002rpj.2_Missense_Mutation_p.S152F	NM_001042548	NP_001036013	Q9UHY8	FEZ2_HUMAN	Homo sapiens fasciculation and elongation protein zeta 2 (zygin II) (FEZ2), transcript variant 2, mRNA.	152					axon guidance|signal transduction		protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				ATTAACACAGGAGACGATGAT	0.443000														77			29		0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7812358	7812358	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7812358G>A	uc002mht.2	-	0	107	c.40C>T	c.(40-42)Ctc>Ttc	p.L14F	CD209_uc010xju.1_Missense_Mutation_p.L14F|CD209_uc010dvp.2_5'UTR|CD209_uc002mhr.2_5'UTR|CD209_uc002mhs.2_5'UTR|CD209_uc002mhu.2_Missense_Mutation_p.L14F|CD209_uc010dvq.2_Missense_Mutation_p.L14F|CD209_uc002mhq.2_5'UTR|CD209_uc002mhv.2_Missense_Mutation_p.L14F|CD209_uc002mhx.2_Missense_Mutation_p.L14F|CD209_uc002mhw.2_Missense_Mutation_p.L14F|CD209_uc010dvr.2_Missense_Mutation_p.L14F	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	14					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCACCCAGGAGGCCCAGCTGC	0.612000														221			96		0	0	1	0	0
PPP6R1	22870	broad.mit.edu	37	19	55757032	55757032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55757032G>A	uc002qjv.3	-	1	511	c.428C>T	c.(427-429)gCc>gTc	p.A143V	PPP6R1_uc002qjw.4_Missense_Mutation_p.A81V	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 1 (PPP6R1), mRNA.	81	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						AATCTCGCAGGCCACACTGGG	0.667000														22			8		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48597980	48597980	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:48597980G>A	uc003gyh.1	-	13	1678	c.1073C>T	c.(1072-1074)tCt>tTt	p.S358F	FRYL_uc003gyk.3_Missense_Mutation_p.S358F	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.S358C(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTATACAAAGATTCCAGTGC	0.284000														31			8		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35187478	35187478	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:35187478C>T	uc003teq.1	-	7	1112	c.5G>A	c.(4-6)tGg>tAg	p.W2*	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		AGGTGGTGTCCACATCACACG	0.363000														33			8		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640680	104640681	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:104640680_104640681GA>AT	uc003hxe.1	-	0	293_294	c.152_153TC>AT	c.(151-153)ctc>cAT	p.L51H		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	51						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGGAGGAGGAGAGGTTGCCAGC	0.698000														42			26		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179576907	179576907	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179576907G>A	uc021vsy.1	-	92	24143	c.23918C>T	c.(23917-23919)tCt>tTt	p.S7973F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4634F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8900	Ig-like 62.						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)			ATCTCCAACAGACACCTTAAC	0.463000														54			24		0	0	1	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23262319	23262319	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:23262319G>A	uc001yvh.1	+	11	1475	c.933G>A	c.(931-933)aaG>aaA	p.K311K	DQ578838_uc021sfn.1_5'Flank|DQ588973_uc001yvl.3_5'Flank|DQ595055_uc001yvm.3_5'Flank|JA429730_uc021sfp.1_5'Flank					Homo sapiens golgin A8 family, member I, pseudogene (GOLGA8IP), non-coding RNA.											endometrium(1)|lung(2)|prostate(1)	4						AGCAAGTAAAGGAGCTACAGG	0.577000														36			10		0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128855915	128855915	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:128855915G>A	uc009zcp.3	-	13	1467	c.1467C>T	c.(1465-1467)ctC>ctT	p.L489L	ARHGAP32_uc009zcq.2_Silent_p.L449L|ARHGAP32_uc009zco.3_5'UTR|ARHGAP32_uc001qez.3_Silent_p.L140L|ARHGAP32_uc001qfb.3_Silent_p.L274L	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	489	Rho-GAP.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTGGTGGGGGGAGCTGCTGGA	0.438000														35			8		0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150029801	150029801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:150029801C>T	uc003lsn.3	+	2	3070	c.2696C>T	c.(2695-2697)tCt>tTt	p.S899F	SYNPO_uc021yfu.1_Missense_Mutation_p.S899F|SYNPO_uc003lso.4_Missense_Mutation_p.S655F|SYNPO_uc003lsp.3_Missense_Mutation_p.S655F|SYNPO_uc021yfv.1_Missense_Mutation_p.S655F	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	899	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGGCGTGGTCTCCCCGAGCC	0.667000														124			37		0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31139024	31139024	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:31139024G>A	uc010qdz.2	-	6	745	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	ZNF438_uc001ivn.3_Nonsense_Mutation_p.Q55*|ZNF438_uc010qdy.2_Nonsense_Mutation_p.Q94*|ZNF438_uc001ivo.4_Intron|ZNF438_uc009xlg.3_Nonsense_Mutation_p.Q104*|ZNF438_uc001ivp.4_Nonsense_Mutation_p.Q94*|ZNF438_uc010qea.2_Nonsense_Mutation_p.Q104*|ZNF438_uc010qeb.2_Nonsense_Mutation_p.Q104*|ZNF438_uc010qec.1_Intron	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q104R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TGAATTGGCTGAGCTGAGGCA	0.488000														127			32		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841610	5841610	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5841610C>T	uc010qzp.2	+	0	45	c.45C>T	c.(43-45)atC>atT	p.I15I	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F14C(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTCTTTATCTTGAATGGCG	0.507000														73			13		0	0	1	0	0
TNFSF15	9966	broad.mit.edu	37	9	117554722	117554722	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117554722C>T	uc004bjh.3	-	2	382	c.266G>A	c.(265-267)aGa>aAa	p.R89K	TNFSF15_uc004bjg.3_Missense_Mutation_p.R30K	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	89					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TCCGTCTGCTCTAAGAGGTGC	0.488000														50			14		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961518	73961518	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73961518G>A	uc004eby.3	-	2	3491	c.2874C>T	c.(2872-2874)ctC>ctT	p.L958L		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	958					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	p.Q957H(1)		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						CATCAGATGGGAGTTGGGTAT	0.423000														105			13		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379722	145379722	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:145379722G>A	uc003lnt.3	+	2	718	c.480G>A	c.(478-480)gaG>gaA	p.E160E	SH3RF2_uc011dbl.1_Silent_p.E160E	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	160	SH3 1.						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)			AGCTTGATGAGAATTGGTACC	0.557000														57			21		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398297	89398297	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89398297G>A	uc010upo.1	+	11	2855	c.2481G>A	c.(2479-2481)aaG>aaA	p.K827K	ACAN_uc010upp.1_Silent_p.K827K|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	827					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)			TCCCCTCCAAGGAGCCATCCC	0.622000														16			6		0	0	1	0	0
NR1D2	9975	broad.mit.edu	37	3	24003559	24003559	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:24003559C>T	uc003ccs.2	+	4	928	c.609C>T	c.(607-609)ttC>ttT	p.F203F	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_Silent_p.F128F	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	203					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						ACAGCCAGTTCAGTGGTCACT	0.458000														33			16		0	0	1	0	0
CD63	967	broad.mit.edu	37	12	56121019	56121019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56121019G>A	uc001shn.3	-	2	356	c.171C>T	c.(169-171)atC>atT	p.I57I	CD63_uc009znz.3_Silent_p.I34I|CD63_uc001sho.3_Silent_p.I57I	NM_001780	NP_001771	P08962	CD63_HUMAN	Homo sapiens CD63 molecule (CD63), transcript variant 1, mRNA.	57					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CCACTGCGATGATGACCACTG	0.592000														132			34		0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57871033	57871033	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57871033C>T	uc001sod.3	-	7	1182	c.989G>A	c.(988-990)gGg>gAg	p.G330E	ARHGAP9_uc001sny.3_5'Flank|ARHGAP9_uc001snz.3_Missense_Mutation_p.G75E|ARHGAP9_uc001soa.3_5'UTR|ARHGAP9_uc001sob.3_Missense_Mutation_p.G259E|ARHGAP9_uc001soc.3_Missense_Mutation_p.G259E|ARHGAP9_uc001soe.1_Missense_Mutation_p.G338E|ARHGAP9_uc010sro.1_Missense_Mutation_p.G259E	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	259	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGTCTGTGTCCCCTCCATGGA	0.542000														50			8		0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64517912	64517912	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64517912C>T	uc001oax.4	-	16	2930	c.2113G>A	c.(2113-2115)Gga>Aga	p.G705R	PYGM_uc001oay.4_Missense_Mutation_p.G617R	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	705					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TTTTCCTCTCCCGCCTCTTCT	0.557000														231			16		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142641786	142641786	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142641786G>A	uc003wcb.3	-	11	1567	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	453					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TTTCTGAGGCGAGTGATGAGG	0.607000														52			4		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86258507	86258507	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:86258507G>A	uc002sqs.3	-	29	4903	c.4524C>T	c.(4522-4524)atC>atT	p.I1508I	POLR1A_uc010ytb.2_Silent_p.I874I	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	1508					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TGAACGGGTGGATCTCACGCA	0.677000														155			62		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106917020	106917020	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106917020G>A	uc001kyi.1	+	9	1834	c.1607G>A	c.(1606-1608)gGa>gAa	p.G536E		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	536						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GACCTGAGAGGAAGCCCAGTG	0.567000														43			8		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155098568	155098568	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:155098568G>A	uc002tyt.4	+	2	441	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	GALNT13_uc002tyr.4_Missense_Mutation_p.E113K|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	113						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CTACCCTGATGAACTTCCAAA	0.333000														41			24		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15053097	15053097	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15053097C>T	uc010xoc.2	+	0	797	c.797C>T	c.(796-798)cCt>cTt	p.P266L		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GTTACACCACCTTCTAGGACA	0.537000														112			49		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984946	140984946	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140984946C>T	uc011mwp.2	+	6	1402	c.1402C>T	c.(1402-1404)Ctc>Ttc	p.L468F	MAGEC3_uc004fbs.3_Missense_Mutation_p.L170F|MAGEC3_uc010nsj.3_Missense_Mutation_p.L170F|MAGEC3_uc022cfh.1_Missense_Mutation_p.L170F	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	468	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTTTCTTCTCCTCAAATA	0.463000														23			33		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66190294	66190294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66190294C>T	uc001ohx.1	+	3	756	c.580C>T	c.(580-582)Cct>Tct	p.P194S	NPAS4_uc010rpc.1_Silent_p.P20P	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	194					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						TTTCTGTGCCCCTCTGGAGCC	0.622000														107			20		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90816375	90816375	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:90816375C>T	uc003hst.3	+	0	324	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S	MMRN1_uc010iku.3_Intron	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	85					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.P85P(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AACACTGCCTCCCTCAGAAAC	0.478000														47			20		0	0	1	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67174477	67174477	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67174477C>T	uc001ola.3	+	7	857	c.828C>T	c.(826-828)ttC>ttT	p.F276F	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_Intron|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	276	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGGATGCCTTCCTCAGTGAGG	0.662000														120			48		0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154207104	154207104	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154207104C>T	uc001fep.4	+	4	484	c.317C>T	c.(316-318)tCa>tTa	p.S106L	UBAP2L_uc009wot.3_Missense_Mutation_p.S106L|UBAP2L_uc010pek.2_Missense_Mutation_p.S105L|UBAP2L_uc010pel.2_Missense_Mutation_p.S105L|UBAP2L_uc021pad.1_Missense_Mutation_p.S105L|UBAP2L_uc010pem.1_Missense_Mutation_p.S105L|UBAP2L_uc010pen.2_Missense_Mutation_p.S9L	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	106					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGGGAGTCTCAGGCCAGAAG	0.502000														51			14		0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150883947	150883947	+	Missense_Mutation	SNP	C	T	T	rs104886490	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150883947C>T	uc003wjm.1	-	0	532	c.271G>A	c.(271-273)Gac>Aac	p.D91N	ASB10_uc003wjl.1_Missense_Mutation_p.D91N|ASB10_uc003wjn.1_Intron	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	91					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCTCTGGGTCGCTGGTATCA	0.637000														27			7		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121643197	121643197	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121643197G>A	uc003eep.2	+	12	1156	c.1003_splice	c.e12-1	p.G335_splice	SLC15A2_uc011bjn.1_Splice_Site_p.G304_splice	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	335					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AAATGTTTCAGGGGTTTTTTG	0.363000														157			56		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76919504	76919504	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:76919504C>T	uc001oyb.2	+	42	6158	c.5886C>T	c.(5884-5886)ttC>ttT	p.F1962F	MYO7A_uc001oyc.2_Silent_p.F1924F|MYO7A_uc001oye.2_Non-coding_Transcript	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1962	FERM 2.		Missing (in USH1B).		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						ATGACTTCTTCTTTGACTTTG	0.527000														13			3		0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242814637	242814637	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242814637C>T	uc010fzu.1	+	1	953	c.930C>T	c.(928-930)tcC>tcT	p.S310S		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	310						integral to membrane											GCCCCATCTCCCTCAACAATG	0.662000														61			25		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34888154	34888154	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:34888154C>A	uc003teh.1	+	7	1032	c.904C>A	c.(904-906)Ctt>Att	p.L302I	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.L302I|NPSR1_uc010kwt.1_Missense_Mutation_p.L149I|NPSR1_uc010kwu.1_Missense_Mutation_p.L92I|NPSR1_uc010kwv.1_Missense_Mutation_p.L236I|NPSR1_uc003tei.1_Missense_Mutation_p.L302I|NPSR1_uc010kww.1_Missense_Mutation_p.L291I|NPSR1_uc011kar.1_Missense_Mutation_p.L236I	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	302						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TTTCAACCTCCTTCCAGACAC	0.493000														283			23		2.21704e-12	2.22629e-12	1	1	0
FMN2	56776	broad.mit.edu	37	1	240370636	240370636	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240370636G>A	uc010pye.2	+	5	2761	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K	FMN2_uc010pyd.2_Missense_Mutation_p.E842K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	842	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.E985K(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AACCAGCCACGAACACTCTGT	0.557000														90			27		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740549	37740549	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:37740549C>T	uc004aag.1	+	14	2068	c.2024C>T	c.(2023-2025)tCc>tTc	p.S675F	FRMPD1_uc004aah.1_Missense_Mutation_p.S675F|FRMPD1_uc011lqm.2_Missense_Mutation_p.S497F|FRMPD1_uc011lqn.2_Missense_Mutation_p.S544F	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	675						cytoskeleton|cytosol|plasma membrane		p.S675S(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACAGAGTTTTCCGAGAGTGCT	0.582000														37			6		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848305	215848305	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:215848305G>A	uc001hku.1	-	62	13335	c.12948C>T	c.(12946-12948)ttC>ttT	p.F4316F		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4316	Fibronectin type-III 28.				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)		CAGTGTAATTGAAAGTCACAG	0.448000										HNSCC(13;0.011)				125			59		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95159188	95159188	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95159188G>A	uc001kin.3	-	12	1305	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	MYOF_uc001kio.3_Silent_p.L394L|MYOF_uc001kip.4_Silent_p.L394L|MYOF_uc009xuf.2_Silent_p.L376L	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	394	C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGGATCCACGAGATTTTTCT	0.348000														36			19		0	0	1	0	0
C12orf76	400073	broad.mit.edu	37	12	110495058	110495058	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:110495058G>A	uc001tqd.1	-	3	600	c.235C>T	c.(235-237)Cct>Tct	p.P79S	C12orf76_uc001tqe.1_Non-coding_Transcript|C12orf76_uc010sxx.1_Non-coding_Transcript|C12orf76_uc001tqf.1_Intron	NM_207435	NP_997318	Q8N812	CL076_HUMAN	Homo sapiens chromosome 12 open reading frame 76 (C12orf76), mRNA.	79										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						AGCTCTGCAGGGAGGATGTGC	0.502000														34			16		0	0	1	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74367329	74367329	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74367329G>A	uc002axa.1	-	10	902	c.861C>T	c.(859-861)tcC>tcT	p.S287S	DQ596164_uc021sqd.1_5'Flank	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA.	287										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GGGGCGCCAGGGATGGGGGCT	0.552000														108			29		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754602	76754602	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:76754602G>A	uc002lmt.3	+	1	2611	c.2611G>A	c.(2611-2613)Gag>Aag	p.E871K	SALL3_uc010dra.3_Missense_Mutation_p.E478K	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	871					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGGGTCCGGGGAGAGTGACCG	0.677000														63			15		0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	78458947	78458947	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:78458947C>T	uc002ffk.3	+	6	1135	c.786C>T	c.(784-786)tcC>tcT	p.S262S	WWOX_uc002ffl.3_Intron|WWOX_uc010che.3_Intron|WWOX_uc010vnk.2_Silent_p.S149S	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	Homo sapiens WW domain containing oxidoreductase (WWOX), transcript variant 1, mRNA.	262	Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).				Wnt receptor signaling pathway|apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CCTCAGAGTCCCATCGGTGGG	0.463000														100			26		0	0	1	0	0
HIATL1	84641	broad.mit.edu	37	9	97209106	97209106	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:97209106C>T	uc004aur.3	+	7	999	c.730_splice	c.e7-1	p.S244_splice	HIATL1_uc011luh.2_Splice_Site_p.S179_splice	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	Homo sapiens hippocampus abundant transcript-like 1 (HIATL1), mRNA.	244					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TATTCTCAGTCGTTGAAGAAA	0.353000														68			15		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35740337	35740337	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35740337G>A	uc003jjo.3	+	22	3409	c.3298G>A	c.(3298-3300)Gaa>Aaa	p.E1100K	SPEF2_uc003jjp.1_Missense_Mutation_p.E586K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1100					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGATGATGAGGAAACAAAGGC	0.453000														121			56		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23898557	23898557	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23898557C>T	uc001wjx.3	-	13	1245	c.1139_splice	c.e13-1	p.E380_splice		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	380	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTGTCAGCCTCTGGAAGGAAA	0.557000														50			26		0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13729486	13729486	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:13729486T>C	uc001mld.3	+	3	560	c.405T>C	c.(403-405)ctT>ctC	p.L135L	FAR1_uc009ygp.3_Silent_p.L135L	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	Homo sapiens fatty acyl CoA reductase 1 (FAR1), mRNA.	135					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CGCGACAGCTTATTCTCCTTG	0.353000														53			22		0	0	1	0	0
C11orf71	54494	broad.mit.edu	37	11	114270917	114270917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:114270917G>A	uc001pot.1	-	0	223	c.137C>T	c.(136-138)cCt>cTt	p.P46L	C11orf71_uc001pou.4_Missense_Mutation_p.P46L|RBM7_uc001pov.3_5'Flank|RBM7_uc001pox.3_5'Flank|RBM7_uc001pow.3_5'Flank	NM_019021	NP_061894	Q6IPW1	CK071_HUMAN	Homo sapiens chromosome 11 open reading frame 71 (C11orf71), mRNA.	46										large_intestine(3)|lung(1)	4		all_cancers(61;1.15e-11)|all_epithelial(67;5.3e-06)|all_hematologic(158;0.000303)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.6e-06)|Epithelial(105;4.31e-05)|all cancers(92;0.00036)		AATCGCTTCAGGCCTGGAAAC	0.662000														24			8		0	0	1	0	0
LOC647264	0	broad.mit.edu	37	13	64321066	64321066	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:64321066G>A	uc010thk.1	+	0		c.107G>A								Homo sapiens hypothetical LOC647264, mRNA (cDNA clone MGC:189721 IMAGE:9057045), complete cds.																		ctgtggctatggctgtggcta	0.557000														29			11		0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77907015	77907015	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:77907015C>T	uc002bct.1	-	1	1286	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	LINGO1_uc002bcu.1_Missense_Mutation_p.D406N	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 1 (LINGO1), mRNA.	412	Ig-like C2-type.|LRRCT.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						AGTAGCACATCAGGGAAGTCC	0.652000														32			4		0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56436015	56436015	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56436015G>A	uc002iwf.3	-	7	3078	c.1122C>T	c.(1120-1122)ccC>ccT	p.P374P	RNF43_uc010wnv.2_Silent_p.P333P|RNF43_uc002iwh.4_Silent_p.P374P|RNF43_uc002iwg.4_Silent_p.P374P|RNF43_uc010dcw.3_Silent_p.P247P	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	374						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGGCAGGAAGGGACCAGGTC	0.687000														3			4		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156882382	156882382	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156882382C>T	uc001fqj.1	+	16	2293	c.2177C>T	c.(2176-2178)cCc>cTc	p.P726L	PEAR1_uc001fqk.1_Missense_Mutation_p.P351L	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	726						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)					TGTGTATGTCCCCCAGGGCAC	0.602000														55			21		0	0	1	0	0
NXPH4	11247	broad.mit.edu	37	12	57619434	57619434	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57619434C>T	uc010srf.2	+	1	1006	c.831C>T	c.(829-831)atC>atT	p.I277I	NXPH4_uc009zpj.3_Silent_p.I83I	NM_007224	NP_009155	O95158	NXPH4_HUMAN	Homo sapiens neurexophilin 4 (NXPH4), mRNA.	277	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TCAAAGTCATCTGTATCTTCG	0.572000														68			16		0	0	1	0	0
CALB1	793	broad.mit.edu	37	8	91075654	91075654	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:91075654C>T	uc003yel.1	-	6	668	c.486G>A	c.(484-486)ctG>ctA	p.L162L	CALB1_uc011lge.1_Silent_p.L105L	NM_004929	NP_004920	P05937	CALB1_HUMAN	Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.	162	EF-hand 4.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CAGTTAATTCCAGCTTCCCAT	0.313000														51			12		0	0	1	0	0
TREH	11181	broad.mit.edu	37	11	118529660	118529660	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118529660C>T	uc001pty.1	-	12	1544	c.1499G>A	c.(1498-1500)cGa>cAa	p.R500Q	TREH_uc009zaj.1_Missense_Mutation_p.R469Q|TREH_uc001ptz.1_Missense_Mutation_p.R377Q	NM_007180	NP_009111	O43280	TREA_HUMAN	Homo sapiens trehalase (brush-border membrane glycoprotein) (TREH), mRNA.	500					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	p.R500P(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		AAAATTGGTTCGGATCCAATT	0.587000														139			67		0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25312259	25312259	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:25312259C>T	uc001isi.4	+	2	436	c.107C>T	c.(106-108)aCc>aTc	p.T36I	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Missense_Mutation_p.T36I	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	36					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	CTTTCAAGAACCTTTGCACTT	0.388000														99			36		0	0	1	0	0
DBT	1629	broad.mit.edu	37	1	100672014	100672014	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:100672014G>A	uc001dta.3	-	8	1229	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	DBT_uc010oug.2_Missense_Mutation_p.S218F	NM_001918	NP_001909	P11182	ODB2_HUMAN	Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.	399					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TCCAATGTTGGAAAGAGTAAA	0.373000														159			55		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28725631	28725631	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28725631G>A	uc002kwn.3	-	6	1144	c.882C>T	c.(880-882)ttC>ttT	p.F294F	DSC1_uc002kwm.3_Silent_p.F294F	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	294	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GGTGTATGGAGAAATGCTTTG	0.393000														153			15		0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108565964	108565964	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108565964G>A	uc003dxi.1	+	3	346	c.202G>A	c.(202-204)Gat>Aat	p.D68N	TRAT1_uc010hpx.1_Missense_Mutation_p.D31N	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	68					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TAACTTAGATGATATGATTTC	0.259000														80			17		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538849	55538849	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55538849C>T	uc003xsd.1	+	3	2555	c.2407C>T	c.(2407-2409)Cct>Tct	p.P803S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	803					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAAAGTGTTTCCTCACAATGA	0.299000														43			20		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51382663	51382663	+	Silent	SNP	G	A	A	rs151022264		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:51382663G>A	uc001wyu.3	-	9	1246	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	PYGL_uc010tqq.2_Silent_p.F339F|PYGL_uc010anz.1_Silent_p.F179F	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	373					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TGGTGTAGGCGAAGGTCTTCT	0.592000														60			11		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28586965	28586965	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28586965G>A	uc002kwj.4	-	11	1951	c.1796C>T	c.(1795-1797)cCt>cTt	p.P599L	DSC3_uc002kwi.4_Missense_Mutation_p.P599L	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	599	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.P599P(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AGGTTCATCAGGATCAACAGC	0.368000														45			28		0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67691229	67691229	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:67691229C>T	uc001stn.2	+	4	971	c.534C>T	c.(532-534)acC>acT	p.T178T	CAND1_uc001sto.2_5'Flank	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	178					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CAATTCTGACCTGTCTACTTC	0.393000														176			74		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306200	54306200	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54306200G>A	uc021smr.1	+	0	1100	c.1100G>A	c.(1099-1101)aGa>aAa	p.R367K	UNC13C_uc021sms.1_Missense_Mutation_p.R367K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	367					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R367*(1)		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)		GGACACCAGAGAGACTGCCCA	0.383000														66			5		0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713033	32713033	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32713033G>A	uc003obx.3	+	1	238	c.180G>A	c.(178-180)gtG>gtA	p.V60V		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	60	Alpha-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGTTCTATGTGGACCTGGAGA	0.483000														170			48		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1081113	1081113	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1081113A>G	uc001lsx.1	+	10	1436	c.1409A>G	c.(1408-1410)gAg>gGg	p.E470G		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	470	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGCTCAACGAGCTGCAGGTG	0.667000														45			8		0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101656712	101656712	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:101656712G>A	uc010fiv.3	-	5	1094	c.963C>T	c.(961-963)ttC>ttT	p.F321F	TBC1D8_uc010yvw.2_Silent_p.F336F|TBC1D8_uc002tau.4_Silent_p.F78F	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	321	GRAM 2.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TGTCAGAGGCGAACATCCGCC	0.582000														47			22		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196689128	196689128	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196689128C>T	uc002utj.4	-	48	9243	c.9142G>A	c.(9142-9144)Gaa>Aaa	p.E3048K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3048	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L3047S(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGAAGAGGTTCCAAAATAGGA	0.353000														119			30		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50724778	50724778	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:50724778G>A	uc021vhh.1	-	12	3493	c.2572C>T	c.(2572-2574)Ctt>Ttt	p.L858F	NRXN1_uc002rxb.4_Missense_Mutation_p.L530F|NRXN1_uc021vhg.1_Missense_Mutation_p.L898F|NRXN1_uc021vhi.1_Missense_Mutation_p.L894F|NRXN1_uc021vhj.1_Missense_Mutation_p.L854F|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	858	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACAGAAGAAAGATACCGTCGT	0.408000														58			22		0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71531781	71531781	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:71531781C>T	uc009zrt.1	-	4	558	c.396G>A	c.(394-396)ggG>ggA	p.G132G	TSPAN8_uc001swk.1_Silent_p.G132G|TSPAN8_uc001swj.1_Silent_p.G132G	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	132					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TTTCACTTTCCCCTGTGGCGC	0.353000														114			33		0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35478537	35478537	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:35478537C>T	uc003anj.3	+	1	1207	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R86C(4)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCGGAGGGTTCGTACCACCTT	0.557000														101			35		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38516844	38516844	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:38516844C>T	uc002yvz.3	+	20	1897	c.1792C>T	c.(1792-1794)Cac>Tac	p.H598Y	TTC3_uc011aee.1_Missense_Mutation_p.H288Y|TTC3_uc002ywa.3_Missense_Mutation_p.H598Y|TTC3_uc002ywb.3_Missense_Mutation_p.H598Y|TTC3_uc010gnf.3_Missense_Mutation_p.H363Y|TTC3_uc002ywc.3_Missense_Mutation_p.H288Y|TTC3_uc011aed.1_Missense_Mutation_p.H288Y|TTC3_uc010gne.1_Missense_Mutation_p.H598Y	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	598					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGCTCTCAATCACTTTGAGAA	0.348000														143			11		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909381	123909381	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123909381C>T	uc001pzq.1	-	0	328	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E110*(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGGAAACACTCGGTGCTCCCC	0.552000														81			53		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807307	143807307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143807307C>T	uc011ktz.2	+	0	632	c.632C>T	c.(631-633)tCc>tTc	p.S211F		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GGGCCTCTTTCCTTGATTCTG	0.527000														169			61		0	0	1	0	0
OGFRL1	79627	broad.mit.edu	37	6	72006513	72006513	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:72006513C>T	uc003pfx.1	+	5	848	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	Homo sapiens opioid growth factor receptor-like 1 (OGFRL1), mRNA.	229						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						ATTTCAGCATCTGAATGAGTA	0.408000														64			6		0	0	1	0	0
LOC442132	442132	broad.mit.edu	37	5	7304345	7304345	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:7304345C>T	uc003jdy.2	-	3		c.366_splice	c.e3+1							Homo sapiens golgin A6 family-like 1 pseudogene (LOC442132), non-coding RNA.																		ATCATGTTACCTCTTTCAGCT	0.557000														13			7		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33144259	33144259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33144259G>A	uc003ocx.1	-	26	2348	c.2120C>T	c.(2119-2121)cCc>cTc	p.P707L	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P621L|COL11A2_uc003ocz.1_Missense_Mutation_p.P600L	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	707	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGGTCCAGAGGGACCCTGGAA	0.547000														23			10		0	0	1	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111626048	111626048	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:111626048G>A	uc001plw.1	-	5	898	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	PPP2R1B_uc010rwi.1_Missense_Mutation_p.R208C|PPP2R1B_uc001plx.1_Missense_Mutation_p.R272C|PPP2R1B_uc010rwk.1_Missense_Mutation_p.R272C|PPP2R1B_uc010rwl.1_Missense_Mutation_p.R145C|PPP2R1B_uc010rwj.1_Missense_Mutation_p.R111C	NM_181699	NP_859050	P30154	2AAB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA.	272							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		ACCATATAGCGAACGCGCCAA	0.408000														103			37		0	0	1	0	0
GIT1	28964	broad.mit.edu	37	17	27909760	27909760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:27909760G>A	uc002heg.2	-	3	575	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S	GIT1_uc002hef.2_Missense_Mutation_p.P121S|GIT1_uc010wbg.1_Missense_Mutation_p.P121S	NM_001085454	NP_001078923	Q9Y2X7	GIT1_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 1 (GIT1), transcript variant 1, mRNA.	121	Arf-GAP.			P -> S (in Ref. 1; AAD28046).	regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TCCCGGCAGGGAAGCTTGTGC	0.587000														21			15		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057962	9057962	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9057962G>A	uc002mkp.3	-	2	29688	c.29484C>T	c.(29482-29484)tcC>tcT	p.S9828S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9830	Ser-rich.|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						CTAGGACAGAGGAATGAGATT	0.458000														67			26		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096346	51096346	+	Missense_Mutation	SNP	G	A	A	rs138592316		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:51096346G>A	uc003tps.3	-	10	2803	c.2618C>T	c.(2617-2619)cCc>cTc	p.P873L	COBL_uc003tpr.4_Missense_Mutation_p.P816L|COBL_uc011kcl.2_Missense_Mutation_p.P816L|COBL_uc003tpp.4_Missense_Mutation_p.P602L|COBL_uc003tpq.4_Missense_Mutation_p.P757L|COBL_uc003tpo.4_Missense_Mutation_p.P358L	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	816										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTTCTGCTGGGGCGATATTGG	0.657000														52			11		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23238964	23238964	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:23238964G>A	uc009vqj.1	+	14	2869	c.2724G>A	c.(2722-2724)acG>acA	p.T908T	EPHB2_uc001bge.3_Silent_p.T909T|EPHB2_uc001bgf.3_Silent_p.T908T|EPHB2_uc010odu.2_Silent_p.T850T	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	908					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TGGACCGCACGATCCCCGACT	0.617000														80			23		0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183756207	183756207	+	Silent	SNP	C	T	T	rs139778852		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183756207C>T	uc011bqv.2	+	6	930	c.930C>T	c.(928-930)ttC>ttT	p.F310F	HTR3D_uc003fmj.3_Silent_p.F135F|HTR3D_uc011bqu.2_Silent_p.F260F|HTR3D_uc010hxp.3_Silent_p.F89F	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.	310						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTGTCTACTTCGCCCTGTGCC	0.587000														77			29		0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1801497	1801497	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:1801497G>A	uc003gdr.3	+	3	659	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	FGFR3_uc003gdu.2_Missense_Mutation_p.E135K|FGFR3_uc003gds.3_Missense_Mutation_p.E135K|FGFR3_uc003gdq.3_Missense_Mutation_p.E135K|FGFR3_uc010icb.1_5'Flank|FGFR3_uc003gdt.1_5'Flank	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	135					JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGGAGATGACGAAGACGGGGA	0.682000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					42			5		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52946055	52946055	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:52946055G>A	uc003gzl.3	+	8	1603	c.1325G>A	c.(1324-1326)gGa>gAa	p.G442E	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.G410E|SPATA18_uc003gzk.1_Missense_Mutation_p.G442E	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	442					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ATTGCATATGGAGCAGATGGA	0.418000														160			53		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854106	12854106	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12854106G>A	uc001auj.2	+	2	433	c.330G>A	c.(328-330)gaG>gaA	p.E110E		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	110								p.E110*(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTTGACGAGAATTTCTGGG	0.542000														594			124		0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628328	173628328	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:173628328C>T	uc001gja.1	-	1	291	c.230G>A	c.(229-231)gGg>gAg	p.G77E	ANKRD45_uc001gjb.4_Missense_Mutation_p.G77E	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	93										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CAAATTTCTCCCAACGATGTC	0.443000														110			42		0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47337533	47337533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:47337533C>T	uc010gqb.3	+	10	970	c.707C>T	c.(706-708)cCt>cTt	p.P236L	PCBP3_uc002zhp.2_Missense_Mutation_p.P236L|PCBP3_uc010gqc.2_Silent_p.P302P|PCBP3_uc002zhq.2_Missense_Mutation_p.P236L|PCBP3_uc002zhs.2_Missense_Mutation_p.P211L|PCBP3_uc002zht.2_Missense_Mutation_p.P227L	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	236					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TATGCCATCCCTCACCCGGAT	0.527000														77			36		0	0	1	0	0
TST	7263	broad.mit.edu	37	22	37407092	37407092	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37407092G>A	uc003aqg.3	-	1	1565	c.870C>T	c.(868-870)tcC>tcT	p.S290S	TST_uc003aqh.3_Silent_p.S290S	NM_003312	NP_003303	Q16762	THTR_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese) (TST), nuclear gene encoding mitochondrial protein, mRNA.	290					cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						ACTTTCCCTGGGACACACGGC	0.602000														103			32		0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79165041	79165041	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:79165041G>A	uc002jzp.1	-	21	2926	c.2726C>T	c.(2725-2727)gCc>gTc	p.A909V	AZI1_uc002jzm.1_Missense_Mutation_p.A341V|AZI1_uc002jzn.1_Missense_Mutation_p.A906V|AZI1_uc002jzo.1_Missense_Mutation_p.A870V|AZI1_uc010wum.1_Missense_Mutation_p.A873V|AZI1_uc002jzq.3_Missense_Mutation_p.A57V	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	909					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGCCATGTCGGCCTCCAGCCG	0.652000														100			37		0	0	1	0	0
MSX2	4488	broad.mit.edu	37	5	174156247	174156247	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:174156247C>T	uc003mcy.3	+	1	553	c.465C>T	c.(463-465)ctC>ctT	p.L155L		NM_002449	NP_002440	P35548	MSX2_HUMAN	Homo sapiens msh homeobox 2 (MSX2), mRNA.	155					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCCAGCTCCTCGCCCTGGAGC	0.552000														45			18		0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154516910	154516910	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154516910C>T	uc009wow.3	+	9	1552	c.714C>T	c.(712-714)ccC>ccT	p.P238P	TDRD10_uc001ffd.3_Silent_p.P238P|TDRD10_uc001ffe.3_Silent_p.P159P	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	238	Tudor.						RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCAGCAGCCCTACCTGGAGG	0.637000														11			4		0	0	1	0	0
DDX41	51428	broad.mit.edu	37	5	176939611	176939611	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176939611G>A	uc003mho.3	-	13	1456	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	DOK3_uc003mhi.4_5'Flank|DOK3_uc003mhj.4_5'Flank|DOK3_uc003mhk.3_5'Flank|DDX41_uc003mhn.3_Missense_Mutation_p.R348W|DDX41_uc003mhp.3_Missense_Mutation_p.R348W	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	479	Helicase C-terminal.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TTGCCCTCCCGGAATGCCTCG	0.597000														77			5		0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134183896	134183896	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:134183896G>A	uc009zdf.3	+	16	2001	c.1641G>A	c.(1639-1641)ctG>ctA	p.L547L	GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	547					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCTATTCCCTGGAGATGAAAA	0.483000														20			4		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760565	92760565	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92760565C>T	uc003umh.1	-	4	5936	c.4720G>A	c.(4720-4722)Gaa>Aaa	p.E1574K	SAMD9L_uc003umj.1_Missense_Mutation_p.E1574K|SAMD9L_uc003umi.1_Missense_Mutation_p.E1574K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E1574K|SAMD9L_uc003umk.1_Missense_Mutation_p.E1574K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E1574K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E1574K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E1574K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1574										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAGGGCCTTCAATGGAAAAT	0.323000														51			21		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210977336	210977336	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:210977336G>A	uc001hib.2	-	7	1805	c.1635C>T	c.(1633-1635)tcC>tcT	p.S545S	KCNH1_uc001hic.2_Silent_p.S518S	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	545					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTCTGGACATGGACCAAGTGG	0.483000														113			39		0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207620226	207620226	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:207620226G>A	uc002vbs.3	-	4	472	c.417C>T	c.(415-417)gcC>gcT	p.A139A	MDH1B_uc010ziw.2_Intron|MDH1B_uc002vbt.3_Intron|MDH1B_uc010fui.3_Silent_p.A139A|MDH1B_uc021vvm.1_Silent_p.A41A	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	139					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAGGAGCAGAGGCACTGATAA	0.398000														70			22		0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40557273	40557273	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:40557273G>A	uc002hzo.3	-	1	828	c.605C>T	c.(604-606)tCg>tTg	p.S202L	PTRF_uc010wgi.2_Missense_Mutation_p.S184L	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	Homo sapiens polymerase I and transcript release factor (PTRF), mRNA.	202					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CTCGTCCGACGAAAGCTCCAG	0.667000														109			83		0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84784977	84784977	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:84784977G>A	uc010fgb.3	+	10	1858	c.1721G>A	c.(1720-1722)gGa>gAa	p.G574E	DNAH6_uc002soo.3_Missense_Mutation_p.G153E|DNAH6_uc002sop.3_Missense_Mutation_p.G153E	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	574	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AAACTTGAAGGAAAAACCTGT	0.358000														148			23		0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3119355	3119355	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3119355G>A	uc002ctq.3	+	5	799	c.704G>A	c.(703-705)tGa>tAa	p.*235*	IL32_uc002ctn.3_Silent_p.*189*|IL32_uc002ctk.3_Silent_p.*132*|IL32_uc002cto.3_Silent_p.*235*|IL32_uc010uwp.2_Silent_p.*169*|IL32_uc010btb.3_Silent_p.*179*|IL32_uc002ctl.3_Silent_p.*189*|IL32_uc002ctm.3_Silent_p.*189*|IL32_uc002ctp.3_Silent_p.*169*|IL32_uc002ctr.3_Silent_p.*169*|IL32_uc002ctt.3_Silent_p.*189*|IL32_uc010uwr.2_Silent_p.*149*|IL32_uc002ctu.3_Silent_p.*180*|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	0					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						TCCTCAAAATGAAGATACTGA	0.617000														186			20		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61570930	61570930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61570930G>A	uc002jau.2	+	19	3080	c.3046G>A	c.(3046-3048)Gag>Aag	p.E1016K	ACE_uc010wpj.2_Missense_Mutation_p.E442K|ACE_uc010ddv.2_Missense_Mutation_p.E243K|ACE_uc002jav.2_Missense_Mutation_p.E442K|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.E262K	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1016	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)	CGGCTTCCATGAGGCCATTGG	0.592000														74			10		0	0	1	0	0
SMTNL2	342527	broad.mit.edu	37	17	4500472	4500472	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:4500472G>A	uc002fyf.1	+	6	1180	c.1113G>A	c.(1111-1113)gtG>gtA	p.V371V	SMTNL2_uc002fye.2_Silent_p.V227V	NM_001114974	NP_940903	Q2TAL5	SMTL2_HUMAN	Homo sapiens smoothelin-like 2 (SMTNL2), transcript variant 1, mRNA.	371	CH.									breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		TGCAGCACGTGGACCTGCAGA	0.612000														26			19		0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60375621	60375621	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:60375621G>A	uc001czq.3	-	4	701	c.696C>T	c.(694-696)gtC>gtT	p.V232V		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	232					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TCCATGGAAAGACATTGTAGA	0.358000														31			13		0	0	1	0	0
CCRL2	9034	broad.mit.edu	37	3	46450311	46450311	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46450311C>T	uc010hjg.3	+	1	890	c.777C>T	c.(775-777)ttC>ttT	p.F259F	CCRL2_uc003cpp.4_Silent_p.F247F|CCRL2_uc010hjf.3_Silent_p.F247F|CCRL2_uc021wxc.1_Silent_p.F247F	NM_001130910	NP_003956	O00421	CCRL2_HUMAN	Homo sapiens chemokine (C-C motif) receptor-like 2 (CCRL2), transcript variant 2, mRNA.	247					chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TGGTAGTCTTCCTTCTGATGT	0.403000														384			144		0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47282381	47282381	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:47282381C>T	uc010hjp.3	-	17	2438	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	KIF9_uc003cqx.3_Missense_Mutation_p.E612K|KIF9_uc003cqy.3_Missense_Mutation_p.E547K|KIF9_uc011bat.1_Non-coding_Transcript|FLJ39534_uc003cqw.2_Intron	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	612					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGTGTGGTCTCGCTGGCCCTT	0.458000														90			41		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19480431	19480431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:19480431G>A	uc001bbi.3	-	44	6465	c.6461C>T	c.(6460-6462)tCc>tTc	p.S2154F	UBR4_uc001bbk.1_5'Flank|UBR4_uc001bbl.1_Missense_Mutation_p.S91F|UBR4_uc001bbm.1_Missense_Mutation_p.S1366F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2154					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCCACCATTGGAACTGCAGAC	0.493000														79			34		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179643967	179643967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179643967G>A	uc021vsy.1	-	22	4177	c.3952C>T	c.(3952-3954)Cca>Tca	p.P1318S	TTN_uc021vsz.1_Missense_Mutation_p.P1272S|TTN_uc021vta.1_Missense_Mutation_p.P1272S|TTN_uc021vtb.1_Missense_Mutation_p.P1272S|TTN_uc002unb.2_Missense_Mutation_p.P1318S|AK123298_uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1318	Ig-like 5.						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)			TTTGGTAATGGATATCCAGAC	0.303000														48			20		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529548	57529548	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:57529548G>T	uc011kdi.1	+	3	1493	c.1381G>T	c.(1381-1383)Gag>Tag	p.E461*		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TCATACTGGAGAGAAACCCTA	0.358000														10			7		2.0095e-06	2.01326e-06	1	1	0
LRP2	4036	broad.mit.edu	37	2	170103479	170103479	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170103479G>A	uc002ues.3	-	20	3139	c.2926C>T	c.(2926-2928)Caa>Taa	p.Q976*	LRP2_uc010zdf.1_Nonsense_Mutation_p.Q839*	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	976	EGF-like 4.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGCGTGGGTTGATTACAGGCG	0.502000														34			8		0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406335	55406335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55406335G>A	uc010rij.2	+	0	502	c.502G>A	c.(502-504)Ggc>Agc	p.G168S		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G168V(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ACCATTTTGTGGCCCAAATGA	0.388000														66			29		0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128873892	128873892	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:128873892C>T	uc002tps.3	+	7	1025	c.847C>T	c.(847-849)Cag>Tag	p.Q283*	UGGT1_uc010fme.1_Nonsense_Mutation_p.Q158*|UGGT1_uc002tpr.3_Nonsense_Mutation_p.Q259*	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	283					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGATGAGGTTCAGGGGTTCCT	0.353000														69			25		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540351	169540351	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:169540351G>A	uc003fgb.3	+	0	642	c.642G>A	c.(640-642)caG>caA	p.Q214Q		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	214										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CGGGGCTGCAGAAGTTCTATA	0.532000														93			44		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080136	57080136	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57080136G>A	uc001njr.3	-	3	2338	c.2026C>T	c.(2026-2028)Cca>Tca	p.P676S	TNKS1BP1_uc001njs.3_Missense_Mutation_p.P676S|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.P127S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	676	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCAGGGCCTGGAGGCTCGGGG	0.662000														46			20		0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42821107	42821107	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42821107G>A	uc002otk.1	+	10	944	c.892G>A	c.(892-894)Gag>Aag	p.E298K		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	298						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GCTCATCTACGAGGCGGAAGT	0.657000														29			11		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39549961	39549961	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:39549961G>A	uc010oir.2	+	1	250	c.58G>A	c.(58-60)Gat>Aat	p.D20N	MACF1_uc021ols.1_Missense_Mutation_p.R24Q|MACF1_uc001cdc.2_Missense_Mutation_p.R24Q|MACF1_uc021olt.1_Missense_Mutation_p.R24Q			Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	0	Actin-binding.				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGGAGTGAGCGATCTTACAGG	0.627000														59			24		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117685228	117685228	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117685228G>A	uc001twn.2	-	18	3561	c.2850C>T	c.(2848-2850)atC>atT	p.I950I	NOS1_uc021ren.1_Silent_p.I580I|NOS1_uc021reo.1_Silent_p.I580I|NOS1_uc001twm.2_Silent_p.I916I	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	916					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCATCTTCAGGATCCTCTCCC	0.557000														85			40		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802863	185802863	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:185802863C>T	uc002uph.3	+	3	3334	c.2740C>T	c.(2740-2742)Ccc>Tcc	p.P914S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	914						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTCCAATGATCCCACCACATC	0.398000														75			22		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165861	151165861	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151165861G>A	uc011bod.2	-	3	1908	c.1908C>T	c.(1906-1908)acC>acT	p.T636T		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	636	Ig-like C2-type 2.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTCTTTCGGGGTGACCTGTA	0.418000														95			31		0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207429762	207429762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:207429762C>T	uc002vbq.3	+	13	1587	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	455	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGCACAGAATCCTGGGGTGGC	0.363000														101			34		0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6374257	6374257	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:6374257C>T	uc003gja.3	-	4	642	c.618G>A	c.(616-618)agG>agA	p.R206R	PPP2R2C_uc003gjb.3_Silent_p.R189R|PPP2R2C_uc003gjc.3_Silent_p.R206R|PPP2R2C_uc011bwd.2_Silent_p.R199R|PPP2R2C_uc011bwe.2_Silent_p.R199R|PPP2R2C_uc003gjd.1_Silent_p.R294R	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	206					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TACTGAAGCTCCTGTCGGTGA	0.577000														57			27		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22182404	22182404	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22182404G>A	uc009vqd.3	-	45	5619	c.5579_splice	c.e45-1	p.A1860_splice	HSPG2_uc001bfj.3_Splice_Site_p.A1859_splice	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1859	Ig-like C2-type 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGGTGCCCGAGGCTGACAAGG	0.632000														33			15		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554463	20554463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20554463G>A	uc002dhj.4	-	11	1613	c.1403C>T	c.(1402-1404)tCc>tTc	p.S468F	ACSM2B_uc002dhk.4_Missense_Mutation_p.S468F|ACSM2B_uc010bwf.1_Missense_Mutation_p.S468F	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	468					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCACCCGCTGGAGTTAATGAT	0.512000														385			68		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142565412	142565412	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142565412C>T	uc011kst.2	+	11	2584	c.1797C>T	c.(1795-1797)tcC>tcT	p.S599S	EPHB6_uc011ksu.2_Silent_p.S599S|EPHB6_uc003wbs.3_Silent_p.S307S|EPHB6_uc003wbt.3_Silent_p.S73S|EPHB6_uc003wbu.3_Silent_p.S307S|EPHB6_uc003wbv.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	599						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGATCGGCTCCATCCTGGGGG	0.657000														14			8		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48567670	48567670	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:48567670G>A	uc003gyh.1	-	28	3813	c.3208C>T	c.(3208-3210)Cgt>Tgt	p.R1070C	FRYL_uc003gyk.3_Missense_Mutation_p.R1070C|FRYL_uc003gyi.1_5'Flank	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1070					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGACTGTGACGAAGGCTCTGT	0.353000														44			14		0	0	1	0	0
LHFPL1	340596	broad.mit.edu	37	X	111914257	111914257	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:111914257C>T	uc004epp.3	-	0	504	c.431G>A	c.(430-432)gGa>gAa	p.G144E	LHFPL1_uc004epq.3_Missense_Mutation_p.G121E|LHFPL1_uc010nqa.3_Intron|LHFPL1_uc010nqb.3_Missense_Mutation_p.G121E	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 1 (LHFPL1), mRNA.	121						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTGCGCTGCTCCCATGCAACG	0.577000														14			26		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31332892	31332892	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31332892G>A	uc002ebr.3	+	15	2047	c.1949G>A	c.(1948-1950)gGa>gAa	p.G650E	ITGAM_uc002ebq.3_Missense_Mutation_p.G649E|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.3_Missense_Mutation_p.G55E|ITGAM_uc002ebs.1_Missense_Mutation_p.G55E	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	649					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.G649R(2)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AAGGAAGCCGGAGAGGTCAGA	0.512000														122			51		0	0	1	0	0
MDK	4192	broad.mit.edu	37	11	46403895	46403895	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:46403895G>A	uc001nco.3	+	2	350	c.128G>A	c.(127-129)gGg>gAg	p.G43E	MDK_uc009ykz.1_Missense_Mutation_p.G43E|MDK_uc001ncp.3_Missense_Mutation_p.G43E|MDK_uc009yla.3_Intron|MDK_uc009ylb.3_Splice_Site_p.G43_splice|MDK_uc001ncq.3_Missense_Mutation_p.G43E	NM_001012334	NP_002382	P21741	MK_HUMAN	Homo sapiens midkine (neurite growth-promoting factor 2) (MDK), transcript variant 1, mRNA.	43					adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction	extracellular region	growth factor activity|heparin binding			lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		TGGGCCTGGGGGCCCTGCACC	0.692000														13			5		0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	211018911	211018911	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:211018911G>A	uc002vds.3	-	1	604	c.396C>T	c.(394-396)ttC>ttT	p.F132F	KANSL1L_uc002vdt.3_Silent_p.F132F|KANSL1L_uc002vdw.3_Silent_p.F132F|KANSL1L_uc002vdy.1_Silent_p.F132F|KANSL1L_uc002vdv.3_Silent_p.F132F|KANSL1L_uc002vdx.1_Silent_p.F132F	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	Homo sapiens chromosome 2 open reading frame 67 (C2orf67), mRNA.	132																	CCTTTTTGATGAACTCTTCAG	0.368000														85			35		0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16528293	16528293	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16528293G>A	uc001ayc.1	-	13	2267	c.2130C>T	c.(2128-2130)gtC>gtT	p.V710V	ARHGEF19_uc009voo.1_Silent_p.V63V	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	710					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCACTGATGACCTCCTTGT	0.592000														29			7		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4277346	4277346	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:4277346C>T	uc003smx.3	+	41	6199	c.6060C>T	c.(6058-6060)atC>atT	p.I2020I	SDK1_uc010kso.3_Silent_p.I1276I|SDK1_uc003smy.3_Silent_p.I507I|SDK1_uc003smz.3_Silent_p.I80I	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	2020					cell adhesion	integral to membrane		p.L2019L(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCAGCCTGATCGTCATCCTGC	0.567000														85			27		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23897778	23897778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23897778C>T	uc001wjx.3	-	14	1615	c.1509G>A	c.(1507-1509)aaG>aaA	p.K503K		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	503	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGATGCCCTCCTTCTTGTACT	0.512000														112			33		0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24164462	24164462	+	Silent	SNP	G	A	A	rs144206187	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:24164462G>A	uc003ccz.4	-	11	1819	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A	THRB_uc010hfe.3_Silent_p.A433A|THRB_uc003ccy.4_Silent_p.A433A|THRB_uc003ccx.4_Silent_p.A433A	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	433	Interaction with NR2F6.|Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGCATGGCAGGCTCCTATCA	0.498000														133			63		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38968367	38968367	+	Silent	SNP	G	A	A	rs113831421		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38968367G>A	uc002oit.3	+	29	4441	c.4311G>A	c.(4309-4311)agG>agA	p.R1437R	RYR1_uc002oiu.3_Silent_p.R1437R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1437	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACTCCGTGAGGGTCTTTGCTG	0.597000														45			11		0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35700223	35700224	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35700223_35700224GG>AA	uc003zxt.2	-	48	6978_6979	c.6624_6625CC>TT	c.(6622-6627)agccgc>agTTgc	p.R2209C		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	2209					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)			ATAGCACGGCGGCTCAGATTGG	0.535000														79			9		0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189733	124189733	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124189733C>T	uc010sah.2	-	0	361	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		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;0.0525)		ACATAACGGTCATATTCCATG	0.408000														51			24		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317934	31317934	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:31317934G>A	uc003jhe.2	+	10	2145	c.1785G>A	c.(1783-1785)ggG>ggA	p.G595G	CDH6_uc003jhd.2_Silent_p.G595G	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	595	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACCACCACGGGAACATGCAAT	0.572000														42			23		0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12595318	12595318	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:12595318G>A	uc001ilo.3	+	1	422	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	CAMK1D_uc001iln.3_Missense_Mutation_p.E63K	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	63	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GAAGGGCAAGGAAAGCAGCAT	0.542000														76			32		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285203	223285203	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:223285203G>A	uc021pjl.1	-	0	1171	c.1171C>T	c.(1171-1173)Ctc>Ttc	p.L391F	TLR5_uc001hnv.2_Missense_Mutation_p.L391F|TLR5_uc001hnw.2_Missense_Mutation_p.L391F	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	391					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TTGTCTCGGAGATCCAAGGTC	0.373000														109			8		0	0	1	0	0
MFGE8	4240	broad.mit.edu	37	15	89442993	89442993	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89442993G>A	uc002bng.4	-	6	1033	c.920C>T	c.(919-921)gCc>gTc	p.A307V	MFGE8_uc002bnf.4_Missense_Mutation_p.A195V|MFGE8_uc002bnh.4_Intron|MFGE8_uc010bnn.3_Missense_Mutation_p.A299V|MFGE8_uc010upq.2_Missense_Mutation_p.A263V	NM_005928	NP_005919	Q08431	MFGM_HUMAN	Homo sapiens milk fat globule-EGF factor 8 protein (MFGE8), transcript variant 1, mRNA.	307	F5/8 type C 2.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					AAAGTTACGGGCCCCCTGGGT	0.547000														41			28		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656462	46656462	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:46656462C>T	uc003bhh.3	-	0	2758	c.2758G>A	c.(2758-2760)Gat>Aat	p.D920N		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	920					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTTTCCTGATCATTTAACCAA	0.438000														159			69		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847485	123847485	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123847485C>T	uc001pzm.1	-	0	914	c.914G>A	c.(913-915)cGg>cAg	p.R305Q		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTCCTTGTTCCGCAAAGTGTA	0.532000														89			54		0	0	1	0	0
SP7	121340	broad.mit.edu	37	12	53723042	53723042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53723042C>T	uc001sct.3	-	1	291	c.184G>A	c.(184-186)Gat>Aat	p.D62N	SP7_uc001scv.3_Missense_Mutation_p.D62N|SP7_uc001scu.3_Missense_Mutation_p.D44N	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GGATAAGCATCCCCCATGGTT	0.552000														139			44		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124351406	124351406	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124351406G>A	uc003ehg.3	+	34	5443	c.5316G>A	c.(5314-5316)acG>acA	p.T1772T	KALRN_uc003ehi.3_Silent_p.T145T|KALRN_uc003ehk.3_Silent_p.T75T|KALRN_uc003ehj.2_Silent_p.T75T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1772					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGTGGCTGACGAGTCCTGTGC	0.577000														87			18		0	0	1	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31813035	31813035	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:31813035G>A	uc002yod.3	+	0	390	c.390G>A	c.(388-390)agG>agA	p.R130R		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA.	130						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TTTCATCCAGGAATTTCCAGG	0.453000														119			44		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60904229	60904229	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:60904229G>A	uc002ycq.3	-	32	4267	c.4200C>T	c.(4198-4200)ttC>ttT	p.F1400F	LAMA5_uc021wfw.1_Silent_p.F1400F	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1400	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTGGCTGATGAAGTCATAGG	0.632000														71			26		0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850684	71850684	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:71850684C>T	uc001ory.1	+	4	723	c.673C>T	c.(673-675)Ccc>Tcc	p.P225S	FOLR3_uc001orx.1_Missense_Mutation_p.P182S			P41439	FOLR3_HUMAN	Homo sapiens folate receptor 3 (gamma) (FOLR3), mRNA.	181					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GTCCTACTTCCCCACTCCAGC	0.592000														83			18		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103377716	103377716	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:103377716C>T	uc001dum.3	-	54	4440	c.4122_splice	c.e54+1	p.R1374_splice	COL11A1_uc001duk.3_Splice_Site_p.R558_splice|COL11A1_uc001dul.3_Splice_Site_p.R1362_splice|COL11A1_uc001dun.3_Splice_Site_p.R1323_splice|COL11A1_uc009weh.3_Splice_Site_p.R1246_splice	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1362	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)		GAAACTTACTCGTTTTCCAGG	0.363000														23			8		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782276	62782276	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62782276G>A	uc009yon.3	-	1	276	c.155C>T	c.(154-156)cCc>cTc	p.P52L	SLC22A8_uc009yom.3_Intron|SLC22A8_uc001nwo.3_Missense_Mutation_p.P52L|SLC22A8_uc010rmm.2_Intron|SLC22A8_uc001nwp.2_Missense_Mutation_p.P52L	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	52					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GGCATTGTGGGGCGGGCGACA	0.627000														161			97		0	0	1	0	0
SPDYE4	388333	broad.mit.edu	37	17	8656701	8656701	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:8656701G>A	uc010cnz.1	-	4	769	c.592C>T	c.(592-594)Cga>Tga	p.R198*		NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN	Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.	198										breast(1)|endometrium(2)|kidney(1)	4						AGCTGGTATCGAAGCTTATGG	0.587000														7			3		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562712	145562712	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:145562712G>A	uc001eob.1	+	9	2508	c.2400G>A	c.(2398-2400)atG>atA	p.M800I	ANKRD35_uc010oyx.1_Missense_Mutation_p.M643I	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	800										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGCCACGATGAGCGGGAAGA	0.637000														25			9		0	0	1	0	0
ZNF80	7634	broad.mit.edu	37	3	113955468	113955468	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:113955468G>A	uc010hqo.3	-	0	958	c.454C>T	c.(454-456)Cgt>Tgt	p.R152C	ZNF80_uc003ebf.3_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	Homo sapiens zinc finger protein 80 (ZNF80), mRNA.	152						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H151N(1)|p.H151Q(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TGGGTCACACGATGCTGGATG	0.488000														84			25		0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31441270	31441270	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:31441270G>A	uc001bsi.1	-	10	1689	c.1576C>T	c.(1576-1578)Ccc>Tcc	p.P526S	PUM1_uc001bsf.1_Missense_Mutation_p.P192S|PUM1_uc001bsh.1_Missense_Mutation_p.P526S|PUM1_uc001bsj.1_Missense_Mutation_p.P527S|PUM1_uc010oga.1_Missense_Mutation_p.P430S|PUM1_uc001bsk.1_Missense_Mutation_p.P562S|PUM1_uc010ogb.1_Missense_Mutation_p.P467S|SNORD85_uc001bsl.1_5'Flank	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	526	Ala-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GCCACAAGGGGATCCGTTTGC	0.532000														60			22		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12343258	12343258	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12343258T>A	uc001atv.3	+	20	5240	c.5099T>A	c.(5098-5100)tTa>tAa	p.L1700*	VPS13D_uc001atw.3_Nonsense_Mutation_p.L1700*|VPS13D_uc001atx.3_Nonsense_Mutation_p.L888*	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1700					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCATCTAGTTTAGCACAAAAA	0.468000														113			54		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98819884	98819884	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98819884G>A	uc001kmw.2	-	9	1225	c.973C>T	c.(973-975)Cct>Tct	p.P325S	SLIT1_uc009xvh.1_Missense_Mutation_p.P325S	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	325					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCTCCAGGAGGGATGGACTTG	0.622000														75			30		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8212211	8212211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8212211C>T	uc002mjf.3	-	0	171	c.154G>A	c.(154-156)Ggc>Agc	p.G52S		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	52						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGCAAGATGCCTGGGCTGCCC	0.692000														10			4		0	0	1	0	0
SNX14	57231	broad.mit.edu	37	6	86252923	86252923	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:86252923G>A	uc003pkr.3	-	13	1559	c.1366C>T	c.(1366-1368)Cct>Tct	p.P456S	SNX14_uc003pkp.3_Missense_Mutation_p.P319S|SNX14_uc003pkq.3_Missense_Mutation_p.P71S|SNX14_uc011dzg.2_Missense_Mutation_p.P404S|SNX14_uc003pks.3_Missense_Mutation_p.P412S|SNX14_uc003pkt.3_Missense_Mutation_p.P456S	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	456	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CAGAACATAGGAGTAAATACA	0.323000														109			21		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238287447	238287447	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:238287447C>T	uc002vwl.2	-	5	2614	c.2329G>A	c.(2329-2331)Gga>Aga	p.G777R	COL6A3_uc002vwo.2_Missense_Mutation_p.G571R|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Missense_Mutation_p.G571R|COL6A3_uc002vwr.3_Missense_Mutation_p.G370R|COL6A3_uc010znk.1_Intron	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	777	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGGCTAGCTCCCACACAAAAA	0.552000														28			8		0	0	1	0	0
AK302514	0	broad.mit.edu	37	6	66013269	66013269	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:66013269G>A	uc011dxv.2	+	1	1546	c.855G>A	c.(853-855)ggG>ggA	p.G285G	EYS_uc011dxu.1_Intron					SubName: Full=cDNA FLJ60373, highly similar to Zinc finger CCCH domain-containing protein11A;																		AGACACTGGGGAAACGAAAAT	0.478000														31			22		0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112042662	112042662	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:112042662G>A	uc001ebh.4	-	1	1634	c.867C>T	c.(865-867)ttC>ttT	p.F289F	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Intron	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	289					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AGGTTTCCTTGAACTTCTTTA	0.443000														40			20		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155450443	155450443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:155450443C>T	uc003qqb.3	+	5	1359	c.86C>T	c.(85-87)tCc>tTc	p.S29F	TIAM2_uc003qqe.3_Missense_Mutation_p.S29F	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	29					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	p.C28G(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ATTCCTTGCTCCCTGAAAATA	0.448000														52			18		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23886856	23886857	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23886856_23886857GG>AA	uc001wjx.3	-	30	4314_4315	c.4208_4209CC>TT	c.(4207-4209)gcc>gTT	p.A1403V		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1403					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAGCCTCCACGGCCTCCTCAGC	0.609000														53			33		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132534831	132534831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:132534831C>T	uc003kyn.1	-	15	2703	c.2485G>A	c.(2485-2487)Ggt>Agt	p.G829S	FSTL4_uc003kym.1_Missense_Mutation_p.G478S	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	829						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCTTTATACCTGACACCTCA	0.592000														43			11		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38753876	38753876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38753876G>A	uc003ciq.3	-	21	3865	c.3865C>T	c.(3865-3867)Ctc>Ttc	p.L1289F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1289					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAGAAGATGAGGCAGACGAGG	0.537000														122			32		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807896	18807896	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:18807896C>T	uc001bax.3	+	0	473	c.421C>T	c.(421-423)Ccc>Tcc	p.P141S	KLHDC7A_uc009vpg.3_5'UTR	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	141			P -> R (in dbSNP:rs2992755).			integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTTGCTGCCCCAGCCAGGA	0.642000														47			20		0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110418764	110418764	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:110418764C>T	uc001tps.2	-	6	876	c.711G>A	c.(709-711)agG>agA	p.R237R	GIT2_uc001tpq.2_Silent_p.R237R|GIT2_uc001tpv.2_Silent_p.R237R|GIT2_uc001tpu.2_Silent_p.R237R|GIT2_uc001tpt.2_Silent_p.R237R|GIT2_uc010sxu.1_Silent_p.R175R|GIT2_uc001tpw.3_Silent_p.R237R|GIT2_uc010sxv.1_Silent_p.R237R	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	237					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CACCTGGTTTCCTGCCACAGA	0.488000														254			70		0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142542441	142542441	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:142542441C>T	uc003evd.3	-	6	1189	c.882G>A	c.(880-882)gtG>gtA	p.V294V		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	294						extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GACACAAGGCCACGGTGGGTT	0.358000														73			32		0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38230307	38230307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38230307C>T	uc002ohe.3	-	4	1153	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	ZNF573_uc010efs.2_Missense_Mutation_p.E275K|ZNF573_uc002ohd.3_Missense_Mutation_p.E360K|ZNF573_uc002ohf.3_Missense_Mutation_p.E304K|ZNF573_uc002ohg.3_Missense_Mutation_p.E274K|ZNF573_uc021utv.1_Missense_Mutation_p.E274K	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTCTTACACTCCTTACATTCA	0.378000														94			23		0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437581	125437581	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125437581C>T	uc011lzb.2	+	0	173	c.173C>T	c.(172-174)cCt>cTt	p.P58L		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						CTTCAAAACCCTATGTATTTT	0.413000														184			44		0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31206141	31206141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:31206141C>T	uc001zff.3	+	4	1949	c.1658C>T	c.(1657-1659)tCg>tTg	p.S553L	FAN1_uc001zfe.3_Missense_Mutation_p.S158L	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	553					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	p.S553L(2)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CTACTGTTTTCGTTGACCGAC	0.502000								Direct reversal of damage						73			14		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2290852	2290852	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:2290852G>A	uc002wfx.4	+	2	307	c.210G>A	c.(208-210)acG>acA	p.T70T		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	70					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CGGCCATGACGAAGGCTGTGT	0.532000														149			32		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333020	70333020	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70333020G>A	uc001oqc.3	-	20	3292	c.3180C>T	c.(3178-3180)ttC>ttT	p.F1060F	SHANK2_uc010rqn.2_Silent_p.F536F|SHANK2_uc001opz.3_Silent_p.F531F|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	747					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCTCCTCGGGGAACATGGAGG	0.667000														45			14		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715998	13715998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:13715998C>T	uc001rbt.2	-	12	4353	c.4174G>A	c.(4174-4176)Ggg>Agg	p.G1392R		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1392					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGTCGTCCCCAAAAGTGGGG	0.622000														30			13		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4432134	4432135	+	Silent	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4432134_4432135CC>TT	uc002mal.3	+	11	2233_2234	c.2133_2134CC>TT	c.(2131-2136)ttcctg>ttTTtg	p.711_712FL>FL		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	711	Binds to p60.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCTGCTTCCTGGAGACCCT	0.658000								Chromatin Structure						46			14		0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71041035	71041035	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:71041035G>A	uc003xyn.1	-	16	3667	c.3505C>T	c.(3505-3507)Cgt>Tgt	p.R1169C	NCOA2_uc011lfb.1_Missense_Mutation_p.R257C	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	1169					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGCTGCATACGGAGTGTGGCA	0.552000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									34			17		0	0	1	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315572	73315572	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:73315572G>A	uc002siu.4	-	2	1415	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	RAB11FIP5_uc002sit.4_Missense_Mutation_p.R314C	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	392					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTGTTGCTACGACTGCCTCTG	0.637000														74			21		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371007	240371007	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240371007C>T	uc010pye.2	+	5	3132	c.2907C>T	c.(2905-2907)ccC>ccT	p.P969P	FMN2_uc010pyd.2_Silent_p.P965P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	965	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGGCATACCCCTTCCTCCCC	0.701000														80			26		0	0	1	0	0
PMEPA1	56937	broad.mit.edu	37	20	56234689	56234689	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:56234689G>A	uc002xyq.3	-	1	567	c.174C>T	c.(172-174)atC>atT	p.I58I	PMEPA1_uc002xyr.3_Silent_p.I8I|PMEPA1_uc002xys.3_Silent_p.I23I|PMEPA1_uc002xyt.3_Silent_p.I8I	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	58					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GCAGGCACGTGatcaccacca	0.577000														12			3		0	0	1	0	0
CD3E	916	broad.mit.edu	37	11	118183534	118183534	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118183534G>A	uc001psq.4	+	5	561	c.305G>A	c.(304-306)gGa>gAa	p.G102E	CD3E_uc010rya.2_Missense_Mutation_p.G102E	NM_000733	NP_000724	P07766	CD3E_HUMAN	Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	102	Ig-like.				G-protein coupled receptor protein signaling pathway|T cell costimulation|T cell receptor signaling pathway|signal complex assembly|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	SH3 domain binding|T cell receptor binding|protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	TACCCCAGAGGAAGCAAACCA	0.458000														109			14		0	0	1	0	0
NUMBL	9253	broad.mit.edu	37	19	41186939	41186939	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41186939G>A	uc002oon.3	-	5	591	c.423C>T	c.(421-423)atC>atT	p.I141I	NUMBL_uc010xvq.2_Silent_p.I100I|NUMBL_uc010xvr.2_Silent_p.I100I|NUMBL_uc002ooo.3_Silent_p.I141I	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	141	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			AGACCTTTTCGATGGTCTGGT	0.537000														121			60		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25675929	25675929	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:25675929C>T	uc003grr.3	+	10	1309	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	SLC34A2_uc003grs.3_Missense_Mutation_p.P409S|SLC34A2_uc010iev.3_Missense_Mutation_p.P409S	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	410					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTTCCCCTTTCCCTTTGCATG	0.597000			T	ROS1	NSCLC									34			18		0	0	1	0	0
SCP2	6342	broad.mit.edu	37	1	53413751	53413751	+	Splice_Site	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:53413751T>C	uc001cur.2	+	3	367	c.199_splice	c.e3+1	p.G67_splice	SCP2_uc010ono.2_Splice_Site|SCP2_uc010onp.2_Intron|SCP2_uc009vzi.2_Splice_Site_p.G67_splice|SCP2_uc001cus.2_Splice_Site|SCP2_uc001cuq.2_Splice_Site_p.G67_splice	NM_002979	NP_001180546	P22307	NLTP_HUMAN	Homo sapiens sterol carrier protein 2 (SCP2), transcript variant 1, mRNA.	67					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GCTATGTTTTTGGTATGTATT	0.353000														139			37		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163996	150163996	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150163996C>T	uc003whj.3	+	1	540	c.210C>T	c.(208-210)ttC>ttT	p.F70F		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	70						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.L69I(1)		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)		CTGACCTTTTCTCCTCAATAG	0.493000														137			69		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166229797	166229797	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166229797C>T	uc002udc.3	+	20	4202	c.3912C>T	c.(3910-3912)tcC>tcT	p.S1304S	SCN2A_uc002udd.3_Silent_p.S1304S|SCN2A_uc002ude.3_Silent_p.S1304S	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1304					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1304S(3)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCATCAAATCCCTCAGAACAC	0.408000														125			29		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35827133	35827133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35827133G>A	uc010edt.3	+	3	691	c.607G>A	c.(607-609)Gag>Aag	p.E203K	CD22_uc010edu.3_Missense_Mutation_p.E203K|CD22_uc010edv.3_Missense_Mutation_p.E203K|CD22_uc002nzb.4_Missense_Mutation_p.E203K|CD22_uc010xst.2_Missense_Mutation_p.E31K|CD22_uc010edx.3_5'Flank	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	203	Ig-like C2-type 1.		E -> K.		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)	CACCCGGAGCGAGCTCAAGTT	0.557000														64			30		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19725294	19725294	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:19725294C>T	uc002ykw.3	-	9	1128	c.1097G>A	c.(1096-1098)tGg>tAg	p.W366*		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	366	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AATCCTTTCCCATTCATTATC	0.348000														152			40		0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55370910	55370910	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55370910C>T	uc003xsb.4	+	0	416	c.212C>T	c.(211-213)cCg>cTg	p.P71L		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	71					Wnt receptor signaling pathway|angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.P71Q(2)		endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			ATCCGGCGGCCGATGAACGCT	0.677000														27			16		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142480013	142480013	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142480013G>A	uc011ksq.2	+	1	228	c.145G>A	c.(145-147)Ggt>Agt	p.G49S	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CCACTTCTGCGGTGGCTCCCT	0.562000														218			18		0	0	1	0	0
PLGLA	285189	broad.mit.edu	37	2	107002817	107002817	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:107002817G>A	uc002tdp.3	+	0		c.49G>A								Homo sapiens plasminogen-like A (PLGLA), non-coding RNA.																		CTGGGGGCAGGAAGCAGAGAA	0.483000														231			96		0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3006496	3006496	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3006496C>T	uc010dth.3	-	14	1688	c.1425G>A	c.(1423-1425)acG>acA	p.T475T	TLE2_uc010xhb.2_Silent_p.T141T|TLE2_uc002lww.3_Silent_p.T474T|TLE2_uc010xhc.2_Silent_p.T352T|TLE2_uc010dti.3_Silent_p.T488T|TLE2_uc010xhd.1_Silent_p.T382T	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	474					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity	p.G475G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		CCTTGCCGCCCGTGTACACAT	0.716000														17			5		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72176258	72176258	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:72176258G>A	uc001xms.3	+	14	4509	c.4148G>A	c.(4147-4149)gGc>gAc	p.G1383D	SIPA1L1_uc001xmt.3_Missense_Mutation_p.G1362D|SIPA1L1_uc001xmu.3_Missense_Mutation_p.G1362D|SIPA1L1_uc001xmv.3_Missense_Mutation_p.G1383D|SIPA1L1_uc010ttm.2_Missense_Mutation_p.G837D	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1383	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAGAGCCACGGCCTGGACCGG	0.562000														42			20		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450713	41450713	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41450713G>A	uc002yyq.1	-	25	5064	c.4612C>T	c.(4612-4614)Ctg>Ttg	p.L1538L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1538	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCTTCCTGCAGGTCATACAGG	0.577000														37			14		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113163237	113163237	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113163237G>A	uc010mtz.3	-	39	10056	c.9719C>T	c.(9718-9720)tCt>tTt	p.S3240F	SVEP1_uc010mty.3_Missense_Mutation_p.S1166F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3240	Sushi 31.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTTCCCACAAGAAACTGGACT	0.388000														40			13		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20482391	20482391	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:20482391C>T	uc003gpr.1	+	5	724	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	SLIT2_uc003gps.1_Missense_Mutation_p.L174F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	174					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATTCAGGGCTCTCCGGGACCT	0.448000														111			27		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29997796	29997796	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:29997796C>T	uc010bzm.2	+	14	2259	c.2224C>T	c.(2224-2226)Cag>Tag	p.Q742*	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Nonsense_Mutation_p.Q735*|TAOK2_uc021tgf.1_Nonsense_Mutation_p.Q735*|TAOK2_uc002dva.2_Nonsense_Mutation_p.Q735*|TAOK2_uc002dvc.2_Nonsense_Mutation_p.Q735*|TAOK2_uc002dvd.2_Nonsense_Mutation_p.Q562*	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	735					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCATGCGGCCCAGGTTCGCCA	0.672000														127			39		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424057	56424057	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56424057C>T	uc010ygg.2	-	4	1151	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	376	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CATGGATTCACTAATGAGGCC	0.423000														94			45		0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159273855	159273855	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159273855G>A	uc001ftq.3	+	3	311	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	72	Ig-like 1.					integral to plasma membrane		p.E72Q(2)		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)	CAGCCTTTCAGAAGAGACAAA	0.363000														94			39		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19433006	19433006	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19433006G>A	uc010tcj.1	-	0		c.13104C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		CACAGTTCATGGAAAATGCTT	0.363000														68			20		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158389857	158389857	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158389857G>A	uc010pii.2	-	0	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CTGGCTTGAGGAGTAGTTGGA	0.398000														74			25		0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14889987	14889987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrY:14889987C>T	uc004fst.1	+	19	3619	c.2674C>T	c.(2674-2676)Cgg>Tgg	p.R892W	USP9Y_uc010nwu.1_Non-coding_Transcript	NM_004654	NP_004645	O00507	USP9Y_HUMAN	Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA.	892					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCTTATAGTTCGGTTTCCAAA	0.343000														18			15		0	0	1	0	0
LAPTM5	7805	broad.mit.edu	37	1	31206707	31206707	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:31206707C>T	uc001bsc.2	-	7	848	c.757G>A	c.(757-759)Ggc>Agc	p.G253S		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	Homo sapiens lysosomal protein transmembrane 5 (LAPTM5), mRNA.	253	Pro-rich.				transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGCTGGGCCCCCCTCTGGG	0.602000														29			10		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230365	7230365	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7230365A>C	uc003mxb.3	+	9	2525	c.2033A>C	c.(2032-2034)tAc>tCc	p.Y678S	RREB1_uc021yky.1_Missense_Mutation_p.Y678S|RREB1_uc003mxc.3_Missense_Mutation_p.Y678S|RREB1_uc010jnx.3_Missense_Mutation_p.Y678S|RREB1_uc021ykz.1_Missense_Mutation_p.Y678S|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	678					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.D677V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ATCTGCGACTACATCGCCGCC	0.622000														60			8		0	0	1	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159584018	159584018	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:159584018C>T	uc003fcq.2	+	5	1235	c.1054C>T	c.(1054-1056)Cca>Tca	p.P352S	IQCJ-SCHIP1_uc003fcr.2_Missense_Mutation_p.P325S|IQCJ-SCHIP1_uc003fcs.2_Missense_Mutation_p.P276S|IQCJ-SCHIP1_uc003fct.2_Missense_Mutation_p.P263S|IQCJ-SCHIP1_uc021xgm.1_Missense_Mutation_p.P44S|IQCJ-SCHIP1_uc010hvz.1_Missense_Mutation_p.P236S|IQCJ-SCHIP1_uc003fcu.2_Missense_Mutation_p.P33S	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	276						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						TGATGATGGCCCAGGAATTTA	0.398000														165			59		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71003055	71003055	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:71003055G>A	uc001swb.4	-	1	149	c.119C>T	c.(118-120)tCt>tTt	p.S40F	PTPRB_uc010sto.2_Missense_Mutation_p.S40F|PTPRB_uc010stp.2_Missense_Mutation_p.S40F|PTPRB_uc001swc.4_Missense_Mutation_p.S258F|PTPRB_uc001swa.4_Missense_Mutation_p.S258F|PTPRB_uc001swd.4_Missense_Mutation_p.S257F|PTPRB_uc009zrr.2_Missense_Mutation_p.S137F|PTPRB_uc001swe.3_Missense_Mutation_p.S258F	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	40	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GATAGACACAGAATGGCTGGA	0.527000														47			12		0	0	1	0	0
C6orf70	55780	broad.mit.edu	37	6	170154030	170154030	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:170154030T>A	uc003qxg.1	+	1	110	c.77T>A	c.(76-78)tTt>tAt	p.F26Y	TCTE3_uc003qxe.1_5'Flank|TCTE3_uc003qxf.3_5'Flank|C6orf70_uc011ehb.1_Intron|C6orf70_uc003qxh.1_Missense_Mutation_p.F26Y|C6orf70_uc010kky.1_5'UTR	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	26						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		AATCTTGGGTTTCAACTCAGA	0.353000														20			10		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848186	215848186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:215848186G>A	uc001hku.1	-	62	13454	c.13067C>T	c.(13066-13068)cCa>cTa	p.P4356L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4356	Fibronectin type-III 29.				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)		GACTTCTGATGGAGCAGCCTC	0.498000										HNSCC(13;0.011)				82			15		0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890592	229890592	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:229890592G>A	uc002vpr.4	-	2	547	c.509C>T	c.(508-510)aCc>aTc	p.T170I	PID1_uc002vps.4_Missense_Mutation_p.T168I|PID1_uc002vpt.4_Missense_Mutation_p.T137I|PID1_uc002vpu.4_Missense_Mutation_p.T88I	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	170	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GTGGTCGGCGGTGCAGTAGGC	0.587000														84			39		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79387439	79387439	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:79387439C>T	uc003hlb.2	+	49	7547	c.7107C>T	c.(7105-7107)ttC>ttT	p.F2369F		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2368					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGCAGCATTTCCACCTCACCT	0.557000														74			22		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15726098	15726098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15726098G>A	uc001ioc.1	-	3	473	c.473C>T	c.(472-474)aCt>aTt	p.T158I	ITGA8_uc010qcb.1_Missense_Mutation_p.T158I	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	158					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CGGTTTAAGAGTTCTCCAGTG	0.408000														69			5		0	0	1	0	0
CXCR7	57007	broad.mit.edu	37	2	237489685	237489685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:237489685G>A	uc021vys.1	+	0	577	c.577G>A	c.(577-579)Gag>Aag	p.E193K	CXCR7_uc010fyq.3_Missense_Mutation_p.E193K|CXCR7_uc002vwd.3_Missense_Mutation_p.E193K	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	193					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.E193K(1)		central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		GTCCAACAATGAGACCTACTG	0.592000														116			33		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577409	92577409	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92577409C>T	uc001pdj.4	+	17	10893	c.10876C>T	c.(10876-10878)Cgc>Tgc	p.R3626C	FAT3_uc001pdi.4_Missense_Mutation_p.R66C	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3626	Cadherin 33.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGTGATGGTCGCTTCCAGGT	0.502000										TCGA Ovarian(4;0.039)				155			81		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71209547	71209547	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71209547G>A	uc002ezr.3	-	4	630	c.479C>T	c.(478-480)tCc>tTc	p.S160F	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Missense_Mutation_p.S160F|HYDIN_uc010vmc.2_Missense_Mutation_p.S177F|HYDIN_uc010vmd.2_Missense_Mutation_p.S187F|HYDIN_uc002ezw.4_Missense_Mutation_p.S177F	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	160										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)				TCGGAATATGGAAGGCACTCC	0.433000														94			20		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62327271	62327271	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62327271G>A	uc001dab.3	+	18	2485	c.2371G>A	c.(2371-2373)Gaa>Aaa	p.E791K	INADL_uc009waf.1_Missense_Mutation_p.E791K|INADL_uc001daa.2_Missense_Mutation_p.E791K|INADL_uc001dad.3_Missense_Mutation_p.E488K|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	791					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAGCAGTAATGAAGACAAGAC	0.274000														133			57		0	0	1	0	0
SUCLG2	8801	broad.mit.edu	37	3	67570915	67570915	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:67570915G>A	uc021xae.1	-	4	589	c.561C>T	c.(559-561)ctC>ctT	p.L187L	SUCLG2_uc010hob.3_Silent_p.L68L|SUCLG2_uc003dna.4_Silent_p.L187L	NM_001177599	NP_001171070	Q96I99	SUCB2_HUMAN	Homo sapiens succinate-CoA ligase, GDP-forming, beta subunit (SUCLG2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	187	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CCTTAAAAATGAGCTCCGGGT	0.498000														94			44		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922226	37922226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:37922226C>T	uc002hsu.3	-	7	1409	c.1347G>A	c.(1345-1347)atG>atA	p.M449I	IKZF3_uc002htd.3_Missense_Mutation_p.M415I|IKZF3_uc010cwd.3_Missense_Mutation_p.M306I|IKZF3_uc002hsv.3_Missense_Mutation_p.M376I|IKZF3_uc010cwe.3_Missense_Mutation_p.M315I|IKZF3_uc010cwf.3_Missense_Mutation_p.M267I|IKZF3_uc010cwg.3_Missense_Mutation_p.M228I|IKZF3_uc002hsw.3_Missense_Mutation_p.M410I|IKZF3_uc002hsx.3_Missense_Mutation_p.M393I|IKZF3_uc002hsy.3_Missense_Mutation_p.M410I|IKZF3_uc002hsz.3_Missense_Mutation_p.M354I|IKZF3_uc002hta.3_Missense_Mutation_p.M371I|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.M362I|IKZF3_uc002htc.3_Missense_Mutation_p.M202I|IKZF3_uc010wel.2_Missense_Mutation_p.M202I	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	449					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GATACACATCCATCACCTCCC	0.557000														66			57		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7700763	7700763	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7700763C>T	uc002giu.1	+	50	8009	c.7995C>T	c.(7993-7995)ttC>ttT	p.F2665F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2665					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGAAGCCTTCATGGGCATCA	0.552000														77			69		0	0	1	0	0
CIDEA	1149	broad.mit.edu	37	18	12274239	12274239	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:12274239G>A	uc002kqt.4	+	3	543	c.478G>A	c.(478-480)Gac>Aac	p.D160N	CIDEA_uc002kqu.4_Missense_Mutation_p.D194N|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	160					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	p.D194N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						CGTGTCCTACGACATCCGGTG	0.587000														67			26		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21866051	21866051	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21866051C>G	uc001war.2	-	25	5047	c.4982G>C	c.(4981-4983)gGc>gCc	p.G1661A	CHD8_uc001was.2_Missense_Mutation_p.G1382A|SNORD8_uc001wau.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1661					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATCTGGTCGGCCAGCCTTTTC	0.393000														22			5		0	0	1	0	0
ZNF74	7625	broad.mit.edu	37	22	20760771	20760771	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:20760771C>T	uc010gsm.3	+	5	1660	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F	ZNF74_uc002zsg.3_Missense_Mutation_p.S412F|ZNF74_uc002zsh.3_Missense_Mutation_p.S483F|ZNF74_uc002zsi.3_Missense_Mutation_p.S412F|ZNF74_uc010gsn.3_Missense_Mutation_p.S412F	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.	483					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCTTCAGCTCCCACGCCTAC	0.637000														90			28		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3084090	3084090	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:3084090G>A	uc003bpc.3	+	20	2834	c.2495G>A	c.(2494-2496)cGa>cAa	p.R832Q	CNTN4_uc003bpb.1_Missense_Mutation_p.R503Q|CNTN4_uc021wsg.1_Missense_Mutation_p.R832Q|CNTN4_uc003bpe.3_Missense_Mutation_p.R504Q|CNTN4_uc003bpf.3_Missense_Mutation_p.R503Q|CNTN4_uc003bpg.3_Missense_Mutation_p.R88Q	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	832	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AATAGAGGACGAATACAAGGT	0.463000														36			19		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47607787	47607787	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47607787C>T	uc001cqv.1	+	3	441	c.390C>T	c.(388-390)ggC>ggT	p.G130G	CYP4A22_uc009vyo.3_Silent_p.G130G|CYP4A22_uc009vyp.3_Silent_p.G130G	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	130			G -> S (in allele CYP4A22*4, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs2056900).			endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	p.Y129*(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAGGGTACGGCTTGCTCCTGT	0.537000														40			30		0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66638892	66638892	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66638892G>A	uc001ojn.1	-	3	430	c.381C>T	c.(379-381)ttC>ttT	p.F127F	PC_uc001ojo.1_Silent_p.F127F|PC_uc001ojp.1_Silent_p.F127F	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	127	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	p.F127F(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGGCCTGGGCGAAGTCCGCTC	0.632000														192			23		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234458964	234458964	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:234458964G>A	uc001hvy.1	+	7	1593	c.1448G>A	c.(1447-1449)aGa>aAa	p.R483K	SLC35F3_uc001hwa.1_Missense_Mutation_p.R414K	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	414					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AAGAACAGAAGAGCCCGCCCT	0.577000											OREG0014330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		46			10		0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57670611	57670611	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57670611G>A	uc002qoa.1	-	2	261	c.216C>T	c.(214-216)ttC>ttT	p.F72F		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	72						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		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;0.0123)		GTCTTTTCTGGAATCCGTGCC	0.418000														95			29		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228559458	228559458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228559458C>T	uc009xez.1	+	93	21023	c.20979C>T	c.(20977-20979)gcC>gcT	p.A6993A	OBSCN_uc001hsr.1_Silent_p.A1622A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6993	Pro-rich.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCGGGGGGGCCCCTATCAGGG	0.692000														46			8		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958050	121958050	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:121958050C>T	uc003idq.1	-	3	1603	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	359										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AAACTTTGCTCCCTTCCTTTT	0.423000														99			43		0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65293661	65293661	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65293661T>C	uc001oea.1	+	3	519	c.442T>C	c.(442-444)Ttc>Ctc	p.F148L	SCYL1_uc009yqk.3_Missense_Mutation_p.F148L|SCYL1_uc001oeb.1_Missense_Mutation_p.F148L|SCYL1_uc001oec.1_Missense_Mutation_p.F148L	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	148	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GGCCGCCGTGTTCGTGGACCG	0.637000														43			19		0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63852307	63852307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:63852307C>T	uc001jlt.2	+	9	3541	c.3085C>T	c.(3085-3087)Cgg>Tgg	p.R1029W	ARID5B_uc001jlu.2_Missense_Mutation_p.R786W	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	1029					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	p.R1029W(2)		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)					GAAAAAGGCCCGGGCAGTGTC	0.597000														112			29		0	0	1	0	0
TEX10	54881	broad.mit.edu	37	9	103090189	103090189	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:103090189G>A	uc004bas.3	-	7	1896	c.1681C>T	c.(1681-1683)Cat>Tat	p.H561Y	TEX10_uc011lvf.2_Missense_Mutation_p.H400Y|TEX10_uc011lvg.2_Missense_Mutation_p.H564Y	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	561						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GAGCCAAGATGAGCAAGTTGC	0.403000														38			19		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952815	54952815	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:54952815G>A	uc003dhl.3	-	2	843	c.709C>T	c.(709-711)Cct>Tct	p.P237S	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	237						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ACTGGATCAGGAGCAGGAAGA	0.597000														21			11		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113520119	113520119	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:113520119G>A	uc010ljy.1	-	3	1059	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	343					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGGATCTGTTGAAAATGTATT	0.353000														142			50		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64748576	64748576	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:64748576G>A	uc003jtp.3	-	4	1615	c.801C>T	c.(799-801)ggC>ggT	p.G267G	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.	267	Peptidase M12B.				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)		TGTCTTTGCGGCCATGGTAGC	0.378000														111			39		0	0	1	0	0
C10orf96	374355	broad.mit.edu	37	10	118084563	118084563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:118084563G>A	uc001lck.3	+	1	291	c.40G>A	c.(40-42)Gag>Aag	p.E14K		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA.	14										kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)	18		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)		CATCTTCACCGAGCATCAGGC	0.522000														70			21		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72345521	72345521	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:72345521C>T	uc002llw.2	+	0	2599	c.2546C>T	c.(2545-2547)tCa>tTa	p.S849L	ZNF407_uc010xfc.2_Missense_Mutation_p.S849L|ZNF407_uc010dqu.2_Missense_Mutation_p.S849L|ZNF407_uc002llu.2_Missense_Mutation_p.S848L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	849					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGTAACATCTCACGGACGTGT	0.438000														74			18		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240493995	240493995	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240493995G>A	uc010pye.2	+	11	4767	c.4542G>A	c.(4540-4542)caG>caA	p.Q1514Q	FMN2_uc010pyd.2_Silent_p.Q1510Q|FMN2_uc010pyf.1_Silent_p.Q156Q|FMN2_uc010pyg.2_Silent_p.Q106Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1510	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCGAGGACAGGCAGATGGCT	0.423000														101			19		0	0	1	0	0
CDKL4	344387	broad.mit.edu	37	2	39406354	39406354	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:39406354C>T	uc010fal.2	-	7	901	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	CDKL4_uc002rrm.3_Missense_Mutation_p.E301K	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	Homo sapiens cyclin-dependent kinase-like 4 (CDKL4), mRNA.	301						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TTTCTTCCTTCATTACGTGCT	0.378000														141			36		0	0	1	0	0
FIZ1	84922	broad.mit.edu	37	19	56109072	56109072	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56109072G>A	uc002qli.4	-	1	250	c.160C>T	c.(160-162)Ccg>Tcg	p.P54S	FIZ1_uc002qlj.4_Missense_Mutation_p.P54S|ZNF524_uc002qlk.1_5'Flank	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	Homo sapiens FLT3-interacting zinc finger 1 (FIZ1), mRNA.	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCGCAGCGCGGACATGCGTGG	0.657000														99			12		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808219	8808219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8808219C>T	uc002mkl.2	-	0	954	c.833G>A	c.(832-834)cGg>cAg	p.R278Q		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	278						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						CTTCAGAGTCCGCTTGTACTC	0.627000														46			15		0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85424379	85424379	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:85424379G>A	uc001dkm.3	-	2	485	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	82						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		AAACCAAAACGAACAAGCTAA	0.333000														47			14		0	0	1	0	0
PDHA1	5160	broad.mit.edu	37	X	19377730	19377730	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:19377730C>T	uc004czg.4	+	10	1277	c.1132C>T	c.(1132-1134)Cgt>Tgt	p.R378C	PDHA1_uc004czh.4_Missense_Mutation_p.R416C|PDHA1_uc011mjc.2_Missense_Mutation_p.R385C|PDHA1_uc011mjd.2_Missense_Mutation_p.R347C|PDHA1_uc010nfl.3_Missense_Mutation_p.R169C	NM_000284	NP_000275	P08559	ODPA_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	378			R -> H (in X-LS; PDHE1 deficiency).		glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	p.R378C(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	TTTTGAAGTTCGTGGTGCCAA	0.527000														23			32		0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173915704	173915704	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:173915704G>A	uc010pmt.2	-	15	2958	c.2871C>T	c.(2869-2871)ccC>ccT	p.P957P	RC3H1_uc001gju.4_Silent_p.P957P|RC3H1_uc010pms.2_Silent_p.P957P|RC3H1_uc001gjv.3_Silent_p.P957P	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	957					cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CAGATGGAAGGGGTTTTCCAT	0.413000														94			20		0	0	1	0	0
PPP1CA	5499	broad.mit.edu	37	11	67166500	67166500	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67166500C>T	uc001okw.1	-	4	781	c.658G>A	c.(658-660)Gac>Aac	p.D220N	PPP1CA_uc001oku.1_Missense_Mutation_p.D231N|PPP1CA_uc001okv.1_Missense_Mutation_p.D176N|PPP1CA_uc001okx.1_Missense_Mutation_p.D308N	NM_002708	NP_002699	P62136	PP1A_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, alpha isozyme (PPP1CA), transcript variant 1, mRNA.	220					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|cytosol|nucleolus	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			ACGCCACGGTCGTTCTCGCCC	0.627000														86			23		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860848	16860848	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16860848C>T	uc002neu.4	+	5	1817	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	NWD1_uc002net.4_Silent_p.I330I|NWD1_uc002nev.4_Silent_p.I259I|NWD1_uc021uqg.1_Silent_p.I330I	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	465	NACHT.						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						TGCACCTCATCCTCTCAGCTT	0.642000														124			8		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23803443	23803443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:23803443C>T	uc003gqs.3	-	11	2323	c.2203G>A	c.(2203-2205)Gga>Aga	p.G735R	PPARGC1A_uc003gqt.3_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	735	RRM.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AAAGTGTATCCATTTTCAAGA	0.408000														49			4		0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40494791	40494791	+	Splice_Site	SNP	C	T	T	rs138332995		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40494791C>T	uc001zkx.4	+	14	1841	c.1629_splice	c.e14-1	p.S543_splice	BUB1B_uc010ucl.1_Splice_Site_p.S411_splice	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	543					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTTTTCCAGTCCTCCTGCAGA	0.378000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome					154			32		0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776168	38776168	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:38776168C>T	uc003gtj.3	-	3	1682	c.1044G>A	c.(1042-1044)acG>acA	p.T348T	TLR10_uc021xnk.1_Silent_p.T334T|TLR10_uc003gti.3_Silent_p.T348T|TLR10_uc021xnl.1_Silent_p.T348T|TLR10_uc003gtk.3_Silent_p.T348T|TLR10_uc021xnm.1_Silent_p.T348T	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	348					MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity	p.T348T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATTGGAATTTCGTAGGATAAT	0.328000														113			38		0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9512533	9512533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:9512533C>T	uc003brt.3	+	18	3550	c.3115C>T	c.(3115-3117)Cgt>Tgt	p.R1039C	SETD5_uc003bru.3_Missense_Mutation_p.R941C|SETD5_uc003brv.3_Missense_Mutation_p.R928C|SETD5_uc010hck.3_Missense_Mutation_p.R521C|SETD5_uc003brx.3_Missense_Mutation_p.R708C	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	1039										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGACCTCTCTCGTGGATCCTT	0.478000														11			8		0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134890719	134890719	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:134890719G>A	uc003vsp.2	-	4	748	c.686C>T	c.(685-687)cCt>cTt	p.P229L	WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_5'UTR	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	229										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GGAGACATAAGGAGGCAATTT	0.522000														161			55		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994216	140994216	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140994216G>A	uc004fbt.3	+	3	1350	c.1026G>A	c.(1024-1026)atG>atA	p.M342I	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.M1I	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	342				MT -> VS (in Ref. 2; AAC24227).			protein binding	p.P341S(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)					AGATTCCTATGACCTCCTCCT	0.463000										HNSCC(15;0.026)				94			115		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43243836	43243836	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:43243836C>T	uc002lbe.3	+	10	2254	c.1438C>T	c.(1438-1440)Cac>Tac	p.H480Y	SLC14A2_uc010dnj.3_Missense_Mutation_p.H480Y	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	480						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.H480H(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGTGTATTTCACATCGAGTG	0.582000														26			11		0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1734100	1734100	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:1734100C>T	uc004cqd.3	+	1	224	c.8C>T	c.(7-9)tCc>tTc	p.S3F	ASMT_uc010ncy.3_Missense_Mutation_p.S3F|ASMT_uc004cqe.3_Missense_Mutation_p.S3F	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	3					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAGATGGGATCCTCAGAGGAC	0.592000														10			5		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207669644	207669644	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207669644C>T	uc001hfy.3	+	0	172	c.32C>T	c.(31-33)cCt>cTt	p.P11L	CR1_uc009xcl.1_Missense_Mutation_p.P11L|CR1_uc001hfx.3_Missense_Mutation_p.P11L|CR1_uc021pij.1_Missense_Mutation_p.P11L|CR1_uc010psg.1_Missense_Mutation_p.P11L|CR1_uc009xcj.1_Missense_Mutation_p.P11L|CR1_uc009xck.1_Missense_Mutation_p.P11L	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	11					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGCCCGGAGCCTGTCGGGCCG	0.617000														53			13		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784638	82784638	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82784638G>A	uc003uhx.2	-	1	1608	c.1319C>T	c.(1318-1320)cCa>cTa	p.P440L	PCLO_uc003uhv.2_Missense_Mutation_p.P440L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	391	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				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						CTGCTGAACTGGAGTCTTTGT	0.577000														114			22		0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231775413	231775414	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:231775413_231775414GG>AA	uc021vxz.1	-	0	264_265	c.264_265CC>TT	c.(262-267)tccccc>tcTTcc	p.P89S	GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Missense_Mutation_p.P89S|GPR55_uc010fxs.1_Missense_Mutation_p.P89S	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA.	89					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GACGGGAAGGGGGACTGTACCT	0.554000														56			24		0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100454649	100454649	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100454649C>T	uc003uwp.3	+	4	750	c.608C>T	c.(607-609)tCc>tTc	p.S203F	SLC12A9_uc003uwo.1_Missense_Mutation_p.S114F|SLC12A9_uc003uwq.3_Missense_Mutation_p.S114F|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'UTR|SLC12A9_uc003uws.3_5'UTR|SLC12A9_uc003uwt.3_5'UTR|SLC12A9_uc003uwv.3_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	203						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTCTCTGGCTCCCTGGCCTCT	0.652000														97			37		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	122075601	122075601	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:122075601G>A	uc004bkc.2	-	1	489	c.33C>T	c.(31-33)ttC>ttT	p.F11F	DBC1_uc004bkd.2_Silent_p.F11F	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	11					cell cycle arrest|cell death	cytoplasm	protein binding			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						ATATAAACAGGAAGTAGAGGA	0.473000														54			15		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26089961	26089961	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:26089961G>A	uc002gzu.3	-	21	2927	c.2663C>T	c.(2662-2664)tCc>tTc	p.S888F		NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	888	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CACCCGCAGGGACGGGAACTC	0.572000														7			5		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62903542	62903542	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:62903542C>T	uc010ihh.3	+	20	3654	c.3481C>T	c.(3481-3483)Cga>Tga	p.R1161*	LPHN3_uc003hcq.4_Nonsense_Mutation_p.R1161*|LPHN3_uc003hct.3_Nonsense_Mutation_p.R545*	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	1139					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATCTGGTTCTCGAACTCCTGG	0.428000														72			30		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196682553	196682553	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196682553C>T	uc002utj.4	-	50	9393	c.9292_splice	c.e50-1	p.V3098_splice		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3098	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATAATGTTACCTATAAATGA	0.338000														22			4		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394039	154394039	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:154394039C>T	uc010jih.1	+	0	780	c.620C>T	c.(619-621)tCc>tTc	p.S207F		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	207	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTATGAACTCCCAGTCGTCC	0.468000														146			17		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60696259	60696259	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60696259C>T	uc001nqi.3	+	3	886	c.693C>T	c.(691-693)gcC>gcT	p.A231A	TMEM132A_uc001nqj.3_Silent_p.A231A|TMEM132A_uc001nqk.3_Silent_p.A244A|TMEM132A_uc001nql.1_Silent_p.A244A	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	231						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGGAGCAGGCCCTCCCAGTGG	0.701000														20			12		0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121189921	121189921	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:121189921C>T	uc001led.3	+	6	801	c.568C>T	c.(568-570)Cga>Tga	p.R190*	GRK5_uc009xzh.3_Nonsense_Mutation_p.R85*|GRK5_uc010qta.1_Nonsense_Mutation_p.R85*	NM_005308	NP_005299	P34947	GRK5_HUMAN	Homo sapiens G protein-coupled receptor kinase 5 (GRK5), mRNA.	190	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CAGGCAGTATCGAGTGCTAGG	0.458000														108			49		0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981484	70981484	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:70981484G>A	uc003xym.3	-	1	814	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CGTACAGAACGAAGTGCAGGT	0.602000														64			27		0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33894000	33894000	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:33894000C>T	uc003cfx.3	+	12	1817	c.1662C>T	c.(1660-1662)tcC>tcT	p.S554S	PDCD6IP_uc003cfy.3_Silent_p.S559S|PDCD6IP_uc011axw.2_Silent_p.S335S	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	Homo sapiens programmed cell death 6 interacting protein (PDCD6IP), transcript variant 1, mRNA.	554	Interaction with EIAV p9.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCTTAAAATCCTTATTGTCAA	0.303000														45			5		0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159484	39159484	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:39159484C>T	uc003oon.3	-	4	1046	c.682G>A	c.(682-684)Gag>Aag	p.E228K		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	228					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						ATCCAGAGCTCCACGAAGTAG	0.577000														57			98		0	0	1	0	0
CSF2	1437	broad.mit.edu	37	5	131411475	131411475	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:131411475G>A	uc003kwf.3	+	3	397	c.365G>A	c.(364-366)aGt>aAt	p.S122N		NM_000758	NP_000749	P04141	CSF2_HUMAN	Homo sapiens colony stimulating factor 2 (granulocyte-macrophage) (CSF2), mRNA.	122					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	ACCTTTGAAAGTTTCAAAGAG	0.483000														196			21		0	0	1	0	0
CLRN1	7401	broad.mit.edu	37	3	150659371	150659371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:150659371G>A	uc021xfs.1	-	1	722	c.431C>T	c.(430-432)tCa>tTa	p.S144L	CLRN1-AS1_uc011bny.1_Intron|CLRN1_uc021xfq.1_Non-coding_Transcript|CLRN1_uc021xfr.1_5'UTR|CLRN1_uc003eyj.3_Missense_Mutation_p.S68L|CLRN1_uc003eyk.1_Missense_Mutation_p.S144L|CLRN1_uc021xft.1_Non-coding_Transcript	NM_001195794	NP_001182723	P58418	CLRN1_HUMAN	Homo sapiens clarin 1 (CLRN1), transcript variant 5, mRNA.	144					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTACTTACCTGAAATGAAGCT	0.363000														57			16		0	0	1	0	0
VWA1	64856	broad.mit.edu	37	1	1374645	1374645	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1374645C>T	uc001afs.3	+	2	1042	c.816C>T	c.(814-816)ggC>ggT	p.G272G	VWA1_uc001afr.3_3'UTR	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	Homo sapiens von Willebrand factor A domain containing 1 (VWA1), transcript variant 1, mRNA.	272	Fibronectin type-III 1.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCTGGGCCGGCCTCGACCCGG	0.706000														18			5		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40980844	40980844	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:40980844C>T	uc002xkg.3	-	9	1826	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	PTPRT_uc010ggj.3_Missense_Mutation_p.E548K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	548	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGTGGGTTTCATTCCGGAGC	0.572000														104			10		0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10428436	10428436	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10428436G>A	uc002moa.3	-	11	2134	c.2054C>T	c.(2053-2055)tCc>tTc	p.S685F	FDX1L_uc002mnx.1_5'Flank|FDX1L_uc002mny.1_5'Flank|RAVER1_uc021uou.1_5'Flank|RAVER1_uc002mnz.3_Missense_Mutation_p.S53F	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	512						cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCCCAGCGGGGAAGAGCCGAT	0.697000														14			4		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864581	131864581	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:131864581C>T	uc003vra.4	-	19	3968	c.3739G>A	c.(3739-3741)Ggc>Agc	p.G1247S		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1247						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ATGAGGAGGCCGCCAGCCACT	0.617000														17			11		0	0	1	0	0
CTSC	1075	broad.mit.edu	37	11	88027354	88027354	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:88027354A>G	uc001pck.4	-	6	1313	c.1212T>C	c.(1210-1212)aaT>aaC	p.N404N	CTSC_uc001pcl.4_Silent_p.N256N	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	404					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAACAGCATGATTAGTCAGCT	0.488000														57			16		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012653	189012653	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:189012653G>A	uc011cle.1	-	7	1485	c.1263C>T	c.(1261-1263)tcC>tcT	p.S421S	TRIML2_uc003izj.1_Silent_p.S174S|TRIML2_uc003izk.1_Silent_p.S154S|TRIML2_uc003izl.2_Silent_p.S346S	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	346							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)		AGGCGCAATGGGAGAAATTGT	0.478000														105			51		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10243554	10243554	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10243554C>T	uc002gmk.1	-	18	2059	c.1969_splice	c.e18-1	p.E657_splice		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	657	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTAAATTTTCCTGGGACATA	0.433000														18			16		0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47703861	47703861	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:47703861G>A	uc003crq.2	-	19	2239	c.2121C>T	c.(2119-2121)gaC>gaT	p.D707D	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Silent_p.D598D	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	707					chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CCACGCGAGGGTCCACCACAG	0.478000														59			17		0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113783888	113783888	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:113783888G>A	uc001vsx.3	+	1	250	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Missense_Mutation_p.E65K	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	65	Gla.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCTCATACGAAGAGGCCCG	0.572000														91			31		0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141449223	141449223	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:141449223G>A	uc003yvh.2	-	2	967	c.952C>T	c.(952-954)Cag>Tag	p.Q318*	TRAPPC9_uc003yvj.2_Nonsense_Mutation_p.Q220*|TRAPPC9_uc003yvi.1_Nonsense_Mutation_p.Q220*	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	220					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGGGAGTCCTGCAGCATCCCT	0.512000														107			22		0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43006217	43006217	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:43006217G>A	uc010wji.2	-	11	1830	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	KIF18B_uc002iht.3_Missense_Mutation_p.P577S|KIF18B_uc010wjh.2_Missense_Mutation_p.P565S	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				TGAGCCAGAGGTGCCCCCCTG	0.582000														11			8		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149503946	149503946	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149503946C>T	uc010lpk.3	+	59	8761	c.8761C>T	c.(8761-8763)Ccc>Tcc	p.P2921S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2924					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTCTGCGCCCCCGGCTGCAC	0.662000														12			5		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38530995	38530995	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38530995C>T	uc003auy.1	-	6	1030	c.894_splice	c.e6+1	p.E298_splice	PLA2G6_uc003auz.1_Splice_Site_p.E298_splice|PLA2G6_uc003ava.1_Splice_Site_p.E298_splice|PLA2G6_uc003avb.2_Splice_Site_p.E298_splice|PLA2G6_uc010gxk.1_Splice_Site|PLA2G6_uc011ano.1_Splice_Site_p.E263_splice	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	298					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	ATCCACTCACCTCTGCGTTCT	0.662000														40			11		0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7845399	7845399	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7845399C>T	uc003mxu.4	+	1	869	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	231					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.R231H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GTTCTCCCCTCGTCAGCGACA	0.468000														105			33		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2411249	2411249	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:2411249C>T	uc001aji.1	+	2	622	c.348C>T	c.(346-348)ttC>ttT	p.F116F	PLCH2_uc010nyz.2_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	116	Necessary for plasma membrane localization (By similarity).|PH.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			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)		ACGGCAGCTTCGACCCCAACT	0.677000														11			5		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871891	51871891	+	Missense_Mutation	SNP	G	A	A	rs141129077		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:51871891G>A	uc002xwo.3	+	1	2781	c.1894G>A	c.(1894-1896)Gat>Aat	p.D632N	TSHZ2_uc021wex.1_Missense_Mutation_p.D629N	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	632					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAGTGAGGGCGATTCTTTCCG	0.512000														75			21		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143018840	143018840	+	Missense_Mutation	SNP	C	T	T	rs143506735		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143018840C>T	uc003wcr.1	+	4	682	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Missense_Mutation_p.R47C	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	199					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GACAATACTTCGTGGGGTTGT	0.507000														58			21		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407933	105407933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105407933C>T	uc010axc.1	-	6	13975	c.13855G>A	c.(13855-13857)Gag>Aag	p.E4619K	AHNAK2_uc021sen.1_Missense_Mutation_p.E16K|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.E4519K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4619						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTACATCCTCGTGGGCCAGG	0.547000														98			40		0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409824	56409824	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56409824C>T	uc001njb.1	-	0	92	c.92G>A	c.(91-93)gGa>gAa	p.G31E	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AAAGAGGACTCCTTGTAGATC	0.413000														95			9		0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73676009	73676009	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:73676009G>A	uc001ouo.3	+	3	1172	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	141					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CCCCCAAGTCGAACGGGATCT	0.527000											OREG0021218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			24		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47545985	47545985	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:47545985C>A	uc002zia.1	+	25	2338	c.2256C>A	c.(2254-2256)gtC>gtA	p.V752V	COL6A2_uc002zhz.1_Silent_p.V752V|COL6A2_uc002zhy.1_Silent_p.V752V|COL6A2_uc010gqe.2_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	752	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACCGCGACGTCACAGTGACGG	0.627000														153			57		9.59449e-18	9.64375e-18	1	1	0
HTR1A	3350	broad.mit.edu	37	5	63256493	63256494	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:63256493_63256494CC>TT	uc011cqt.2	-	0	1053_1054	c.1053_1054GG>AA	c.(1051-1056)atgggc>atAAgc	p.351_352MG>IS		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	351					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ATGAAGGTGCCCATGATGATGC	0.594000														156			21		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201485454	201485454	+	Missense_Mutation	SNP	G	A	A	rs148848561		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:201485454G>A	uc002uvx.3	+	16	1887	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	AOX1_uc010zhf.2_Missense_Mutation_p.E152K|AOX1_uc010fsu.3_Intron	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	596					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGCCACGGGGGAGGCCATCTA	0.458000														45			17		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7621800	7621800	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:7621800G>A	uc021pmv.1	-	8	1442	c.1336C>T	c.(1336-1338)Ctg>Ttg	p.L446L	ITIH5_uc021pmu.1_Silent_p.L232L|ITIH5_uc001ijr.2_Silent_p.L446L	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	446	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.L446L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTCTCCAGCAGCCTGAAGTCC	0.617000														58			21		0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698666	111698666	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:111698666C>T	uc022cct.1	+	0	710	c.710C>T	c.(709-711)tCc>tTc	p.S237F	ZCCHC16_uc004epo.1_Missense_Mutation_p.S237F	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	237							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTGTTGGCTTCCTTGATCCAA	0.532000														78			94		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94134256	94134256	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:94134256T>G	uc001pet.2	-	0	330	c.158A>C	c.(157-159)cAg>cCg	p.Q53P		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	53						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CACAAAGTTCTGCCAGTCGGA	0.612000														61			13		0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173942648	173942648	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:173942648G>A	uc003isv.3	+	11	2246	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	504	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.?(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TGGATGGAGAGAAGATATTCG	0.478000														121			27		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29104780	29104781	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29104780_29104781GG>AA	uc002kwu.4	+	7	1131_1132	c.943_944GG>AA	c.(943-945)gga>AAa	p.G315K		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	315	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATTTGCATCAGGAAATGAAGGA	0.371000														79			12		0	0	1	0	0
HBBP1	3044	broad.mit.edu	37	11	5264417	5264417	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5264417G>A	uc001mag.3	-	1	285	c.69C>T	c.(67-69)ctC>ctT	p.L23L						Homo sapiens hemoglobin, beta pseudogene 1 (HBBP1), non-coding RNA.																		GGTCATCCGTGAGCATAACAG	0.498000														27			7		0	0	1	0	0
BSPRY	54836	broad.mit.edu	37	9	116132056	116132056	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116132056C>T	uc004bhg.4	+	5	891	c.843C>T	c.(841-843)ttC>ttT	p.F281F	BSPRY_uc010muw.3_3'UTR	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.	281	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CCACCTCCTTCCAGAATGGGC	0.597000														45			22		0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148809282	148809282	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:148809282G>A	uc003wfj.3	-	2	384	c.251C>T	c.(250-252)cCt>cTt	p.P84L		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	84					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.P84H(2)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ATCAGTAGGAGGGCTAGTTGT	0.378000														201			16		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12979590	12979590	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12979590G>A	uc002mvm.3	+	20	2828	c.2700G>A	c.(2698-2700)aaG>aaA	p.K900K		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	900					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CAGTAGAGAAGAGGCCTTCTC	0.592000														147			9		0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53580495	53580495	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:53580495C>T	uc021onn.1	-	2	534	c.366G>A	c.(364-366)aaG>aaA	p.K122K	SLC1A7_uc021onm.1_Intron|SLC1A7_uc001cuy.3_Silent_p.K122K|SLC1A7_uc021ono.1_Non-coding_Transcript|SLC1A7_uc001cuz.4_Silent_p.K122K|AX748428_uc001cva.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	122						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CCGTGGTCTCCTTCTGGGCCG	0.612000														31			11		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75051124	75051124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:75051124C>T	uc009xrc.3	-	19	2430	c.2309G>A	c.(2308-2310)cGg>cAg	p.R770Q	TTC18_uc001jty.3_Missense_Mutation_p.R770Q|TTC18_uc001jtv.4_5'UTR|TTC18_uc001jtw.4_5'UTR|TTC18_uc001jtx.3_Missense_Mutation_p.R151Q	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	770							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTGAAGCATCCGTGCCTGAAG	0.423000														112			57		0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88695234	88695234	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:88695234C>T	uc010voz.2	+	16	2810	c.2610C>T	c.(2608-2610)gcC>gcT	p.A870A	ZC3H18_uc002fky.3_Silent_p.A846A|ZC3H18_uc010chw.3_Non-coding_Transcript|ZC3H18_uc002fkz.3_Silent_p.A116A	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	846						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CTCCTCCAGCCAAGCGGCCCA	0.642000														111			31		0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36370284	36370284	+	Missense_Mutation	SNP	G	A	A	rs147200750		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36370284G>A	uc002oce.3	+	16	2032	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	APLP1_uc010xsz.2_Missense_Mutation_p.E593K|APLP1_uc002ocf.3_Missense_Mutation_p.E633K|APLP1_uc002ocg.3_Missense_Mutation_p.E536K|APLP1_uc010xta.2_Missense_Mutation_p.E626K	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	632					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGCTCCGCGAACTGCAGCG	0.672000														96			30		0	0	1	0	0
NTF3	4908	broad.mit.edu	37	12	5603793	5603793	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:5603793G>A	uc001qnl.4	+	0	496	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	NTF3_uc001qnk.4_Missense_Mutation_p.R151Q	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	138					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.R138Q(2)|p.R138W(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CGGCGGAAACGGTACGCGGAG	0.602000														66			33		0	0	1	0	0
FAM163A	148753	broad.mit.edu	37	1	179782989	179782989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179782989C>T	uc009wxj.3	+	5	628	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	FAM163A_uc001gnj.3_Missense_Mutation_p.P57S|FAM163A_uc009wxk.3_Missense_Mutation_p.P57S	NM_173509	NP_775780	Q96GL9	F163A_HUMAN	Homo sapiens family with sequence similarity 163, member A (FAM163A), mRNA.	57						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						TCCCACGCATCCCAGAGGCCC	0.662000														60			23		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33411949	33411949	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:33411949G>A	uc021vft.1	+	5	1251	c.1228G>A	c.(1228-1230)Ggt>Agt	p.G410S	LTBP1_uc002rou.3_Missense_Mutation_p.G84S|LTBP1_uc002rov.3_Missense_Mutation_p.G84S|LTBP1_uc010ymz.2_Missense_Mutation_p.G84S|LTBP1_uc010yna.2_Missense_Mutation_p.G84S	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	410	EGF-like 2.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.G410C(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ATGTATGAATGGTGGCCAGTG	0.433000														45			20		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092833	30092833	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:30092833G>A	uc010dmc.3	+	0		c.1208G>A								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		GGAGGGACGGGAAGTAGAGGA	0.423000														84			14		0	0	1	0	0
PTENP1	11191	broad.mit.edu	37	9	33676025	33676025	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:33676025C>T	uc003zth.4	-	0	1394	c.523G>A	c.(523-525)Gga>Aga	p.G175R						Homo sapiens phosphatase and tensin homolog pseudogene 1 (PTENP1), non-coding RNA.																		TTGCAAGTTCCGCCACTGAAC	0.418000														118			38		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85711043	85711043	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:85711043C>T	uc003hpd.3	-	21	3913	c.3505G>A	c.(3505-3507)Gag>Aag	p.E1169K		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1169						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATGAGGACTCTTCACTAAAA	0.388000														53			18		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3777936	3777936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3777936G>A	uc002cvv.3	-	30	7316	c.7112C>T	c.(7111-7113)cCt>cTt	p.P2371L	CREBBP_uc002cvw.3_Missense_Mutation_p.P2333L	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	2371					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGTGGCGAAGGCTGGGGCTG	0.642000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							90			10		0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579437	35579437	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:35579437C>T	uc001bym.3	+	9	2152	c.2006C>T	c.(2005-2007)tCa>tTa	p.S669L	ZMYM1_uc001byn.3_Missense_Mutation_p.S669L|ZMYM1_uc010ohu.2_Missense_Mutation_p.S650L|ZMYM1_uc001byo.3_Missense_Mutation_p.S309L|ZMYM1_uc009vut.3_Missense_Mutation_p.S594L	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	669						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCACAAAAATCATCAAAGGCT	0.368000														51			21		0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44146425	44146425	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44146425C>T	uc003tkb.3	+	1	839	c.534C>T	c.(532-534)acC>acT	p.T178T		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	178	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCTCAGAAACCCTGGAGTGGC	0.667000														21			8		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925084	54925084	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54925084G>A	uc001sgc.4	+	22	2626	c.2547G>A	c.(2545-2547)atG>atA	p.M849I	NCKAP1L_uc010sox.2_Missense_Mutation_p.M391I|NCKAP1L_uc010soy.2_Missense_Mutation_p.M799I	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	849					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCTATGGCATGAAGTTCCTGA	0.507000														221			18		0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616431	248616431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248616431G>A	uc001iek.1	+	0	333	c.333G>A	c.(331-333)ggG>ggA	p.G111G		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G110E(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			TGATTGGAGGGGAATTCTTCC	0.542000														244			45		0	0	1	0	0
PHYHIP	9796	broad.mit.edu	37	8	22078966	22078966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:22078966G>A	uc003xbk.4	-	5	1587	c.893C>T	c.(892-894)aCc>aTc	p.T298I	PHYHIP_uc003xbj.4_Missense_Mutation_p.T298I	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.	298										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		CTCCCCCAGGGTGCCCAGGGA	0.627000														100			29		0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158747383	158747383	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:158747383C>T	uc003lxr.1	-	4	670	c.628G>A	c.(628-630)Gtc>Atc	p.V210I		NM_002187	NP_002178	P29460	IL12B_HUMAN	Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.	210					T-helper 1 type immune response|T-helper cell differentiation|cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCACCATGACCTCAATGGGC	0.502000														136			11		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688457	60688457	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:60688457C>T	uc002sae.1	-	3	1818	c.1590G>A	c.(1588-1590)cgG>cgA	p.R530R	BCL11A_uc002sab.3_Silent_p.R530R|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Silent_p.R199R|BCL11A_uc010ypj.2_Silent_p.R496R|BCL11A_uc002sad.1_Silent_p.R378R|BCL11A_uc002saf.1_Silent_p.R496R	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	530					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGACCGCGCCCCGCGAGCTGT	0.697000			T	IGH@	B-CLL									12			6		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634495	156634495	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:156634495G>A	uc003iov.3	+	7	1868	c.1332G>A	c.(1330-1332)gaG>gaA	p.E444E	GUCY1A3_uc010iqc.2_Silent_p.E444E|GUCY1A3_uc010iqd.3_Silent_p.E443E|GUCY1A3_uc003iow.3_Silent_p.E444E|GUCY1A3_uc003iox.3_Silent_p.E444E|GUCY1A3_uc010iqe.3_Silent_p.E209E|GUCY1A3_uc003ioy.3_Silent_p.E444E|GUCY1A3_uc003ioz.3_Silent_p.E209E|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Silent_p.E444E	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	444					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.L443R(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AAGCCCTGGAGGAGGAGAAGA	0.527000														75			26		0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84118695	84118695	+	Silent	SNP	G	A	A	rs141095084	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84118695G>A	uc002fhi.3	-	9	1681	c.1179C>T	c.(1177-1179)acC>acT	p.T393T		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	393	Serine protease.				cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAGCACCATAGGTGACAATGT	0.567000											OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			7		0	0	1	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984913	41984913	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:41984913C>T	uc003gwk.2	+	0	1201	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA.	368										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GCGTGGCCTTCGCTTCTCGGC	0.607000														50			33		0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89531723	89531723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:89531723C>T	uc001pdb.3	-	7	1263	c.934G>A	c.(934-936)Gga>Aga	p.G312R		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	312	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGGTCACATCCAATACACATG	0.373000														59			18		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96875242	96875242	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:96875242G>A	uc001yfn.2	+	3	506	c.462G>A	c.(460-462)acG>acA	p.T154T		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	154					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity	p.S153L(1)		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)		TACTGTCGACGGTGATGACTT	0.473000														69			17		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13870878	13870878	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13870878C>T	uc003jfd.2	-	23	3874	c.3832G>A	c.(3832-3834)Gag>Aag	p.E1278K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1278	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I1277T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAGTTACCTCAATAGGTCCT	0.373000									Kartagener syndrome					54			12		0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161519511	161519511	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161519511G>A	uc001gar.3	-	0	308	c.124C>T	c.(124-126)Ctc>Ttc	p.L42F	FCGR3A_uc001gas.3_Missense_Mutation_p.L42F|FCGR3A_uc001gat.4_Missense_Mutation_p.L6F|FCGR3A_uc009wuh.3_Missense_Mutation_p.L6F|FCGR3A_uc009wui.3_Missense_Mutation_p.L6F	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	6	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		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)	GCAGTTGGGAGGAGCAGCTGC	0.532000														49			17		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70946574	70946574	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70946574C>T	uc001swb.4	-	18	4746	c.4716G>A	c.(4714-4716)aaG>aaA	p.K1572K	PTPRB_uc010sto.2_Silent_p.K1482K|PTPRB_uc010stp.2_Silent_p.K1482K|PTPRB_uc001swc.4_Silent_p.K1790K|PTPRB_uc001swa.4_Silent_p.K1702K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1572					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAGTGTGTGGCTTCAGTGGTC	0.453000														47			13		0	0	1	0	0
GPR22	2845	broad.mit.edu	37	7	107115577	107115577	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107115577G>A	uc003vef.3	+	2	2418	c.1072G>A	c.(1072-1074)Gga>Aga	p.G358R	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron|GPR22_uc022ajv.1_Missense_Mutation_p.G358R	NM_005295	NP_005286	Q99680	GPR22_HUMAN	Homo sapiens G protein-coupled receptor 22 (GPR22), mRNA.	358						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						CATGGCTTATGGAACAACTAT	0.313000														92			40		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47560241	47560241	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47560241G>A	uc003gxk.1	+	11	2549	c.2385G>A	c.(2383-2385)acG>acA	p.T795T	ATP10D_uc003gxl.1_Silent_p.T43T	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	795					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGGTGTATACGAAAGGCGCTG	0.418000														107			41		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733510	152733510	+	Silent	SNP	G	A	A	rs138516775		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152733510G>A	uc001fal.1	+	1	1504	c.1446G>A	c.(1444-1446)ccG>ccA	p.P482P	KPRP_uc021ozf.1_Silent_p.P482P	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	482	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCCCTGCCGGCGCCCTGCC	0.657000														95			41		0	0	1	0	0
CIB3	117286	broad.mit.edu	37	19	16275561	16275561	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16275561C>T	uc002nds.3	-	4	510	c.510G>A	c.(508-510)caG>caA	p.Q170Q	CIB3_uc010eae.3_Silent_p.Q109Q|CIB3_uc010eaf.3_Non-coding_Transcript|CIB3_uc010eag.3_Silent_p.Q121Q	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	170	EF-hand 3.						calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						GGATCATGTTCTGGAAATCTT	0.587000														53			10		0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973592	29973592	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:29973592G>A	uc004dby.2	+	10	2254	c.1746G>A	c.(1744-1746)ggG>ggA	p.G582G		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	582	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGCCTTTTGGGGAGCTGCAGA	0.512000														13			12		0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151599232	151599232	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151599232C>T	uc003ezf.2	+	2	1006	c.901C>T	c.(901-903)Cac>Tac	p.H301Y		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	301						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TTTGGGAGATCACTTCAGGGA	0.433000														108			46		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569441	179569441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179569441C>T	uc021vsy.1	-	101	26251	c.26026G>A	c.(26026-26028)Gaa>Aaa	p.E8676K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5337K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9603	Ig-like 69.						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)			ATGTCAATTTCAAAGACAGCA	0.328000														15			10		0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782660	134782660	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:134782660C>T	uc003lav.3	-	0	379	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	47						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAAAGTTCTCTGGTGGAGCT	0.612000														19			4		0	0	1	0	0
SPINLW1-WFDC6	100526773	broad.mit.edu	37	20	44174367	44174367	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44174367C>T	uc010zxc.2	-	1	203	c.134G>A	c.(133-135)aGg>aAg	p.R45K	SPINLW1-WFDC6_uc002xou.3_Missense_Mutation_p.R45K|SPINLW1-WFDC6_uc002xov.2_Missense_Mutation_p.R45K	NM_001198986	NP_001185915	A6PVD6	A6PVD6_HUMAN	Homo sapiens SPINLW1-WFDC6 readthrough (SPINLW1-WFDC6), mRNA.	45						extracellular region	serine-type endopeptidase inhibitor activity										ACACACATCCCTTTCTTGGAA	0.433000														133			71		0	0	1	0	0
EDDM3A	10876	broad.mit.edu	37	14	21216087	21216087	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21216087G>A	uc021rom.1	+	0	348	c.348G>A	c.(346-348)gaG>gaA	p.E116E	EDDM3A_uc001vyc.3_Silent_p.E116E	NM_006683	NP_006674	Q14507	EP3A_HUMAN	Homo sapiens epididymal protein 3A (EDDM3A), mRNA.	116					sperm displacement	extracellular space		p.E116K(1)		breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GGTACACAGAGAGCAGAAGCT	0.443000														63			20		0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115394878	115394878	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:115394878G>A	uc003ebr.2	+	2	831	c.157G>A	c.(157-159)Gac>Aac	p.D53N	GAP43_uc003ebq.2_Missense_Mutation_p.D17N	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	17	IQ.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AAATGATGACGACCAAAAGAT	0.373000														68			37		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47031040	47031040	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:47031040C>T	uc003cqp.3	+	5	692	c.513C>T	c.(511-513)ttC>ttT	p.F171F	NBEAL2_uc003cqq.1_Silent_p.F164F	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	171							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AATACAAGTTCCCTCCTGCTG	0.622000														12			5		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176022630	176022630	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176022630G>A	uc021yie.1	+	31	4164	c.3890G>A	c.(3889-3891)gGg>gAg	p.G1297E	CDHR2_uc003mem.2_Missense_Mutation_p.G1297E|CDHR2_uc003men.1_Missense_Mutation_p.G1297E	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1297					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.G1297E(2)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CAGCTGGAGGGGCCATCCTAC	0.642000														104			45		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16975983	16975983	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16975983C>T	uc010och.2	+	10		c.2005C>T			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.																		GCTGTGTGGGCCCTCAGGCTC	0.602000														40			12		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769160	247769160	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247769160G>A	uc010pyz.2	+	0	273	c.273G>A	c.(271-273)acG>acA	p.T91T		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T91A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CAAAGAAGACGATCACTTACG	0.463000														359			36		0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69972933	69972933	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69972933G>A	uc003heg.4	+	3	1089	c.1043G>A	c.(1042-1044)gGt>gAt	p.G348D	UGT2B7_uc010ihq.3_Missense_Mutation_p.G348D	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	348					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATACCTTAGGTCTCAATACT	0.358000														117			30		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651583	84651583	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:84651583G>A	uc002bjz.4	+	20	3427	c.3203G>A	c.(3202-3204)gGa>gAa	p.G1068E	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G1068E	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1068						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.A1067A(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AATTCTGCAGGAAGCACCAAC	0.428000														101			27		0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225365136	225365136	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:225365136G>A	uc010fwy.1	-	10	1625	c.1572C>T	c.(1570-1572)gcC>gcT	p.A524A	CUL3_uc010zls.1_Silent_p.A452A|CUL3_uc002vny.2_Silent_p.A518A	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	518					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACTTTGGTGTGGCTGACTGAG	0.428000														121			52		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107674717	107674717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107674717C>T	uc010ljo.1	-	30	4838	c.4754G>A	c.(4753-4755)cGg>cAg	p.R1585Q	LAMB4_uc003vey.2_Missense_Mutation_p.R1585Q|LAMB4_uc010ljp.1_Missense_Mutation_p.R554Q	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1585	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGAGTTTGCCCGTCCTTGAGT	0.338000														132			55		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527500	23527500	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:23527500G>A	uc003jgo.3	+	10	2485	c.2303G>A	c.(2302-2304)aGg>aAg	p.R768K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	768					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						AGACACCAGAGGACACACACA	0.582000										HNSCC(3;0.000094)				197			26		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9117527	9117527	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:9117527G>A	uc001apo.3	-	2	565	c.273C>T	c.(271-273)ccC>ccT	p.P91P	SLC2A5_uc010nzz.2_Intron|SLC2A5_uc010oaa.2_Silent_p.P47P|SLC2A5_uc010oac.2_Silent_p.P91P|SLC2A5_uc001app.4_Silent_p.P91P|SLC2A5_uc021ofv.1_Non-coding_Transcript	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	91					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TATTCACCAAGGGGCCGACCA	0.473000														33			19		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398129	23398129	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:23398129G>A	uc004dal.4	+	1	781	c.773G>A	c.(772-774)aGg>aAg	p.R258K	PTCHD1_uc010nfu.2_Missense_Mutation_p.R258K	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	258					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TCCTCACTGAGGGAAGATTTC	0.517000														46			84		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133051060	133051061	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133051060_133051061TC>AT	uc003ytg.2	-	5	556_557	c.556_557GA>AT	c.(556-558)gac>ATc	p.D186I	OC90_uc011lix.1_Missense_Mutation_p.D202I	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	202	Phospholipase A2-like 1.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TGTTGTCAAGTCTTCCTTGATG	0.520000														21			8		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509611	71509611	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71509611G>A	uc011caw.1	+	8	2749	c.2468G>A	c.(2467-2469)tGg>tAg	p.W823*		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	823					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCCAATATGGCATGAAGGT	0.438000														64			20		0	0	1	0	0
VASH2	79805	broad.mit.edu	37	1	213147345	213147345	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:213147345G>A	uc001hjy.3	+	5	1132	c.928G>A	c.(928-930)Gga>Aga	p.G310R	VASH2_uc001hjv.2_Non-coding_Transcript|VASH2_uc001hjx.3_Missense_Mutation_p.G245R|VASH2_uc010ptn.2_Missense_Mutation_p.G206R|VASH2_uc001hjw.3_Missense_Mutation_p.G266R	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN	Homo sapiens vasohibin 2 (VASH2), transcript variant 3, mRNA.	310					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		GAGAAGCCGGGGAAAATCCCT	0.572000														60			13		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136584084	136584084	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:136584084C>T	uc004cep.4	-	6	1130	c.996G>A	c.(994-996)gaG>gaA	p.E332E	SARDH_uc004ceo.3_Silent_p.E332E|SARDH_uc011mdo.2_Silent_p.E164E|SARDH_uc011mdn.2_Silent_p.E332E	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	332					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGGGGTTGGCCTCATAGCCAC	0.572000														49			25		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62288674	62288674	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62288674G>A	uc001ntl.3	-	4	13515	c.13215C>T	c.(13213-13215)gtC>gtT	p.V4405V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4405					nervous system development	nucleus	protein binding	p.V4405V(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGCAGAGAGACATCCACAT	0.468000														225			95		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028546	37028546	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:37028546C>T	uc004ddl.2	+	0	2115	c.2063C>T	c.(2062-2064)tCt>tTt	p.S688F		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	688										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACTCGCGTATCTCATCTCCGC	0.657000														28			30		0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3638665	3638665	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3638665C>T	uc001akp.3	+	4	620	c.510C>T	c.(508-510)ccC>ccT	p.P170P	TP73_uc021ofb.1_Silent_p.P170P|TP73_uc021ofc.1_Silent_p.P170P|TP73_uc021ofd.1_Silent_p.P170P|TP73_uc021ofe.1_Silent_p.P170P|TP73_uc021off.1_Silent_p.P170P|TP73_uc010nzj.2_Silent_p.P121P|TP73_uc021ofg.1_Silent_p.P121P|TP73_uc021ofh.1_Silent_p.P121P|TP73_uc021ofi.1_Silent_p.P121P|TP73_uc001akr.3_Silent_p.P121P|TP73_uc009vlk.2_Silent_p.P121P|TP73_uc001aks.3_Silent_p.P121P|TP73_uc010nzk.2_Silent_p.P99P	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	170	DNA-binding (Potential).|Poly-Pro.				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|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CCCCGCCACCCCCAGGCACCG	0.617000														79			24		0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139983393	139983393	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139983393C>T	uc004cld.2	+	2	436	c.401C>T	c.(400-402)cCc>cTc	p.P134L	MAN1B1_uc004clc.2_Missense_Mutation_p.P35L|MAN1B1_uc011meo.1_Missense_Mutation_p.P35L|MAN1B1_uc011mep.2_Missense_Mutation_p.P134L|MAN1B1_uc010ncc.2_Non-coding_Transcript|LOC100289341_uc004clb.3_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA.	134					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GCAAATCCACCCGTCTTACCA	0.473000														101			35		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47680242	47680242	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:47680242G>A	uc003oyz.1	+	5	621	c.621G>A	c.(619-621)gtG>gtA	p.V207V	GPR115_uc003oza.1_Silent_p.V150V|GPR115_uc003ozb.1_Silent_p.V150V|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	150					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CTGACATGGTGAAATCATCAG	0.373000														106			35		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423262	107423262	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:107423262C>T	uc002tdq.3	-	5	1581	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	ST6GAL2_uc002tdr.3_Missense_Mutation_p.E488K	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	488					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AGGAGCTTCTCATAGAGTAGT	0.617000														65			24		0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154306661	154306661	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154306661C>T	uc001fex.3	+	9	767	c.767C>T	c.(766-768)cCt>cTt	p.P256L	ATP8B2_uc001few.3_Missense_Mutation_p.P223L|ATP8B2_uc001fey.1_Missense_Mutation_p.P242L	NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	242					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AATAAGTTCCCTCTGAGCAAC	0.517000														327			30		0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147062951	147062951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:147062951G>A	uc004fcm.3	+	0	103	c.29G>A	c.(28-30)gGg>gAg	p.G10E		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	10						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGCGAAGGGGAGGAATAGG	0.597000														37			17		0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206869967	206869967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:206869967G>A	uc002vaz.4	-	10	2614	c.2209C>T	c.(2209-2211)Cgt>Tgt	p.R737C		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	737					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GTAGCAGAACGGAGCAGGTTC	0.522000														48			15		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95480886	95480886	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:95480886C>T	uc010fhq.2	-	1	1494	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	ANKRD20A2_uc010fhp.3_Non-coding_Transcript	NM_001012421	NP_001012421	Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA.	788										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TGATCACATTCATTCATTAGC	0.323000														116			40		0	0	1	0	0
OGN	4969	broad.mit.edu	37	9	95148533	95148533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:95148533C>T	uc011ltx.2	-	5	830	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|OGN_uc004asa.3_Missense_Mutation_p.E226K|OGN_uc004asb.3_Missense_Mutation_p.E226K	NM_033014	NP_148935	P20774	MIME_HUMAN	Homo sapiens osteoglycin (OGN), transcript variant 1, mRNA.	226						extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						GGCACGGATTCCAGGGCATTA	0.378000														75			25		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38991718	38991718	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38991718C>T	uc021wvy.1	-	0	335	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	46					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGGGGTACTTCTCCTGTCTGG	0.527000														143			85		0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81251698	81251698	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:81251698G>A	uc001xux.2	-	13	1923	c.1752C>T	c.(1750-1752)tcC>tcT	p.S584S	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	584						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TGGTATCCAGGGAATTCTTAA	0.438000														106			34		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686297	100686297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100686297C>T	uc003uxp.1	+	2	11653	c.11600C>T	c.(11599-11601)tCa>tTa	p.S3867L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3867						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATACGTATTTCAATTACCAGT	0.478000														92			51		0	0	1	0	0
C18orf26	284254	broad.mit.edu	37	18	52262188	52262188	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:52262188G>A	uc002lfq.1	+	1	200	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	52						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		ACATCCAAATGACCAAGAGGC	0.433000														71			37		0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587388	36587388	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:36587388C>T	uc003aox.3	-	5	1013	c.788G>A	c.(787-789)tGg>tAg	p.W263*	APOL4_uc003aow.3_Nonsense_Mutation_p.W260*|APOL4_uc010gww.3_Nonsense_Mutation_p.W106*	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant b, mRNA.	264					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						TACATATCGCCAAGCAATCAA	0.478000														43			19		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101845424	101845424	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:101845424C>T	uc003uys.4	+	17	3007	c.2880C>T	c.(2878-2880)acC>acT	p.T960T	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.T949T	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	949					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCGAGCTCACCCGGCAGGTTA	0.597000														139			12		0	0	1	0	0
IL36G	56300	broad.mit.edu	37	2	113736882	113736882	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113736882G>A	uc002tio.1	+	2	209	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	IL36G_uc010fkr.1_Intron	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	Homo sapiens interleukin 36, gamma (IL36G), mRNA.	47					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GCAGTTCCACGAAGTGACAGT	0.493000														45			11		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765989	77765989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:77765989C>T	uc003yau.2	+	9	7219	c.6832C>T	c.(6832-6834)Cgt>Tgt	p.R2278C	ZFHX4_uc003yaw.1_Missense_Mutation_p.R2233C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2233						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D2277Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAGAATGCTCGTCAGAAAGC	0.388000										HNSCC(33;0.089)				27			7		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196659300	196659300	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:196659300C>T	uc001gtj.4	+	8	1507	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S	CFH_uc021pgt.1_5'UTR|CFH_uc001gti.4_Missense_Mutation_p.P423S|CFH_uc009wyw.3_Missense_Mutation_p.P398S|CFH_uc009wyx.3_Missense_Mutation_p.P359S	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	423	Sushi 7.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTACGCTCTTCCAAAAGCGCA	0.418000														44			26		0	0	1	0	0
SOX11	6664	broad.mit.edu	37	2	5832928	5832928	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:5832928A>G	uc002qyj.3	+	0	130	c.75A>G	c.(73-75)gaA>gaG	p.E25E		NM_003108	NP_003099	P35716	SOX11_HUMAN	Homo sapiens SRY (sex determining region Y)-box 11 (SOX11), mRNA.	25					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|enhancer sequence-specific DNA binding|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGGAGGGCGAATTCATGGCTT	0.657000														22			5		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140780114	140780114	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140780114C>T	uc011daw.2	+	0	2420	c.2420C>T	c.(2419-2421)tCt>tTt	p.S807F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_5'Flank|PCDHGC5_uc003lkh.2_5'Flank	NM_032099	NP_115270	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 2, mRNA.	171					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)			TATGTCTATTCTTTTTCATTA	0.398000														58			24		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039742	248039742	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248039742C>T	uc001ido.3	+	5	1460	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	471						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AATTGGGCATCCAGGGATCAT	0.463000														53			19		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38753835	38753835	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38753835G>A	uc003ciq.3	-	21	3906	c.3906C>T	c.(3904-3906)ctC>ctT	p.L1302L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1302					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCCCTGCGAAGAGGTTCACAC	0.493000														154			30		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182392093	182392093	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:182392093G>A	uc002unu.3	+	21	3172	c.2409G>A	c.(2407-2409)gaG>gaA	p.E803E	ITGA4_uc010frj.1_Silent_p.E285E|ITGA4_uc002unv.3_Silent_p.E48E	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	803					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GCATGGTGGAGAAAATGAACT	0.328000														62			23		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92543146	92543146	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92543146C>T	uc001pdj.4	+	11	9402	c.9385C>T	c.(9385-9387)Cct>Tct	p.P3129S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3129	Cadherin 28.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGATAACCCCCCTGTGTTTTC	0.542000										TCGA Ovarian(4;0.039)				57			24		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11204731	11204731	+	Missense_Mutation	SNP	G	A	A	rs17848545	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11204731G>A	uc001asd.3	-	33	4967	c.4846C>T	c.(4846-4848)Cgc>Tgc	p.R1616C		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1616	FAT.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.R1616H(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAGATCTGGCGGATGATCTCT	0.582000														52			20		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128957988	128957988	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:128957988G>A	uc003kvb.1	+	9	1699	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	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.	567	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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)		CACTGCTGATGAACAATGCCA	0.463000														60			20		0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80567198	80567198	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:80567198C>T	uc022awk.1	+	3	763	c.381C>T	c.(379-381)ttC>ttT	p.F127F	STMN2_uc003ybj.3_Silent_p.F127F|STMN2_uc010lzp.3_Non-coding_Transcript	NM_001199214	NP_001186143	Q93045	STMN2_HUMAN	Homo sapiens stathmin-like 2 (STMN2), transcript variant 1, mRNA.	127					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			ACAACAACTTCAGCAAGATGG	0.478000														43			20		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990425	47990425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:47990425C>T	uc002xur.1	-	1	1838	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	KCNB1_uc002xus.1_Missense_Mutation_p.E558K	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	558					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCAAGTTCTTCCTTTGGTTTG	0.493000														154			45		0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38353019	38353019	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:38353019C>T	uc001izi.1	+	5	569	c.391C>T	c.(391-393)Cct>Tct	p.P131S				Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 1, mRNA.	58						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CTCCCAGGCCCCTGAGATGCT	0.512000														95			44		0	0	1	0	0
ING4	51147	broad.mit.edu	37	12	6761495	6761495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6761495G>A	uc001qpw.4	-	5	631	c.590C>T	c.(589-591)aCc>aTc	p.T197I	ING4_uc001qpy.4_Missense_Mutation_p.T193I|ING4_uc001qpx.4_Missense_Mutation_p.T194I|ING4_uc009zes.3_Intron|ING4_uc009zet.3_Missense_Mutation_p.T173I|ING4_uc009zeu.3_Intron|ING4_uc009zev.3_Non-coding_Transcript|ING4_uc001qpv.4_Missense_Mutation_p.T196I	NM_001127582	NP_001121054	Q9UNL4	ING4_HUMAN	Homo sapiens inhibitor of growth family, member 4 (ING4), transcript variant 9, mRNA.	197					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|apoptosis|cell cycle arrest|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						AAGGCAATAGGTGGGTTCGTT	0.522000														99			35		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263334	39263334	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:39263334C>T	uc001uwv.3	+	0	2162	c.1853C>T	c.(1852-1854)cCc>cTc	p.P618L		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	618					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACTCACCCTCCCCATGAGAAG	0.522000														78			5		0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119256682	119256682	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:119256682C>T	uc003ica.2	-	2	813	c.766G>A	c.(766-768)Ggt>Agt	p.G256S		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	256	SRCR 1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CACACCCCACCCTGCCAGATG	0.423000														95			37		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617473	77617473	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:77617473G>A	uc003yau.2	+	1	1537	c.1150G>A	c.(1150-1152)Gga>Aga	p.G384R	ZFHX4_uc003yat.1_Missense_Mutation_p.G384R|ZFHX4_uc003yaw.1_Missense_Mutation_p.G384R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	384						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)			CTTCTTAAAAGGAAGCGCGAG	0.517000										HNSCC(33;0.089)				53			15		0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102737049	102737049	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102737049T>C	uc001phk.3	-	7	1136	c.1039A>G	c.(1039-1041)Aaa>Gaa	p.K347E		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	348	Hemopexin-like 2.				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GAATTACCTTTAAAAAGAAAA	0.318000														8			2		0	0	1	0	0
IGF1	3479	broad.mit.edu	37	12	102869433	102869434	+	Missense_Mutation	DNP	CC	TT	TT	rs147960415	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:102869433_102869434CC>TT	uc001tjp.4	-	1	426_427	c.207_208GG>AA	c.(205-210)aggggc>agAAgc	p.G70S	IGF1_uc001tjn.2_Missense_Mutation_p.G54S|IGF1_uc001tjm.2_Missense_Mutation_p.G70S|IGF1_uc001tjo.2_Missense_Mutation_p.G70S	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	70	B.				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						AAATAAAAGCCCCTGTCTCCAC	0.550000														61			15		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203676168	203676168	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203676168C>T	uc001gzw.3	+	8	2028	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	ATP2B4_uc001gzv.3_Silent_p.I377I|ATP2B4_uc009xaq.3_Silent_p.I377I	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	377					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CGGTTTTCATCCTGATTCTAT	0.468000														32			10		0	0	1	0	0
FAM3D	131177	broad.mit.edu	37	3	58639429	58639429	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58639429C>T	uc003dkq.3	-	2	390	c.93G>A	c.(91-93)atG>atA	p.M31I		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	Homo sapiens family with sequence similarity 3, member D (FAM3D), mRNA.	31					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		GGATGGTTTTCATGCTGAAGC	0.577000														146			59		0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74662525	74662525	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:74662525G>A	uc002fda.3	-	10	1892	c.1794C>T	c.(1792-1794)gcC>gcT	p.A598A	RFWD3_uc010vmx.2_Silent_p.A118A|RFWD3_uc010cgq.3_Silent_p.A598A	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	Homo sapiens ring finger and WD repeat domain 3 (RFWD3), mRNA.	598					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						ATGCAGCTGAGGCAGCTCTGG	0.517000														152			56		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31323334	31323334	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:31323334G>A	uc021sia.1	-	21	3344	c.3030C>T	c.(3028-3030)gtC>gtT	p.V1010V	TRPM1_uc010azy.3_Silent_p.V878V|TRPM1_uc001zfl.3_Intron|TRPM1_uc021shz.1_Silent_p.V993V|TRPM1_uc001zfm.3_Silent_p.V971V	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	971					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCAGCATGATGACCACAAAGT	0.493000														78			34		0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558247	159558247	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159558247G>A	uc001ftv.3	+	1	517	c.421G>A	c.(421-423)Ggt>Agt	p.G141S		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	141	Pentaxin.		G -> S (in a breast cancer sample; somatic mutation).		acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.G141S(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TCTGCGACAGGGTTACTTTGT	0.517000														50			10		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43038186	43038186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43038186G>A	uc001zqo.2	-	14	3981	c.3542C>T	c.(3541-3543)tCg>tTg	p.S1181L	TTBK2_uc010bcy.2_Missense_Mutation_p.S1112L|DQ586540_uc001zqn.2_5'Flank	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	1181	Ser-rich.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		ATGTGGGGACGAACTCCTCTG	0.592000														69			26		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3424212	3424212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:3424212C>T	uc003ggw.3	+	10	3852	c.2948C>T	c.(2947-2949)tCc>tTc	p.S983F	RGS12_uc003ggv.3_Missense_Mutation_p.S983F|RGS12_uc003ggy.1_Missense_Mutation_p.S381F|RGS12_uc003ggz.3_Missense_Mutation_p.S335F|RGS12_uc010icu.1_Missense_Mutation_p.S182F|RGS12_uc011bvs.2_Missense_Mutation_p.S325F|RGS12_uc003gha.3_Missense_Mutation_p.S325F|RGS12_uc010icv.3_Missense_Mutation_p.S182F|RGS12_uc003ghb.2_Missense_Mutation_p.S182F	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	983	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCGGGCTTCTCCATCAAAGAC	0.632000														41			14		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20801637	20801637	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:20801637G>A	uc001reh.2	+	12	2621	c.2581G>A	c.(2581-2583)Gat>Aat	p.D861N	PDE3A_uc021qwa.1_Missense_Mutation_p.D539N	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	861	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.N860N(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GCTATATAACGATCGTTCAGT	0.368000														107			39		0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121774680	121774681	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:121774680_121774681CC>TT	uc003idn.3	-	2	442_443	c.192_193GG>AA	c.(190-195)aaggga>aaAAga	p.G65R	PRDM5_uc003ido.3_Missense_Mutation_p.G65R|PRDM5_uc010ine.3_Missense_Mutation_p.G65R|PRDM5_uc010inf.3_Missense_Mutation_p.G65R|PRDM5_uc003idp.1_Missense_Mutation_p.G65R	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	65	SET.				histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.G65*(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AAAACTTCTCCCTTACTCCCAC	0.450000														337			28		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120802039	120802039	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:120802039G>A	uc001ldu.3	-	18	3139	c.2993C>T	c.(2992-2994)cCc>cTc	p.P998L	EIF3A_uc010qsu.2_Missense_Mutation_p.P964L|EIF3A_uc009xzg.1_Missense_Mutation_p.P37L	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	998	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AATTCGTCTGGGAGGCCTGTC	0.572000														208			19		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507303	74507303	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:74507303C>T	uc001dfy.4	-	6	1504	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	438								p.E438K(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTTACTTTTTCTTTATGGTAT	0.343000														107			47		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61564393	61564393	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	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														79			37		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144857686	144857686	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:144857686G>A	uc021ouh.1	-	38	6670	c.6368C>T	c.(6367-6369)tCc>tTc	p.S2123F	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_Missense_Mutation_p.S2123F|PDE4DIP_uc001elx.4_Missense_Mutation_p.S2017F|PDE4DIP_uc001elv.4_Missense_Mutation_p.S1130F	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2123					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)		CAGAGCTGGGGAATTCATACC	0.522000			T	PDGFRB	MPD									199			46		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915876	48915876	+	Missense_Mutation	SNP	C	T	T	rs121912529		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:48915876C>T	uc002rwu.4	-	10	1130	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	354			E -> K (in LHR; Leydig cell hypoplasia type 1).		male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ATAATATCTTCACAGGGATTA	0.443000														135			25		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154072474	154072474	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154072474C>T	uc001fdw.3	-	14	2037	c.1965_splice	c.e14+1	p.K655_splice	NUP210L_uc009woq.3_Splice_Site|NUP210L_uc010peh.2_Splice_Site_p.K655_splice	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	655						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AATATCTTACCTTTAGGGGTT	0.408000														188			78		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954982	70954982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:70954982G>A	uc002ezr.3	-	45	7445	c.7294C>T	c.(7294-7296)Cct>Tct	p.P2432S		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2433										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)				TGGACAAGAGGAAGCCCATGC	0.458000														126			31		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29998372	29998372	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:29998372C>T	uc010bzm.2	+	14	2835	c.2800C>T	c.(2800-2802)Cct>Tct	p.P934S	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.P814S|TAOK2_uc002dva.2_Missense_Mutation_p.P927S|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.P754S	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	927					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCCCGACATCCCTCCTGAACC	0.647000														218			51		0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71707097	71707098	+	Splice_Site	DNP	GG	AC	AC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:71707097_71707098GG>AC	uc001jql.3	+	37	2561	c.2025_splice	c.e37+1	p.R675_splice	COL13A1_uc021prz.1_Splice_Site_p.R626_splice|COL13A1_uc021psa.1_Splice_Site_p.R603_splice|COL13A1_uc021psb.1_Splice_Site_p.R597_splice|COL13A1_uc001jqk.2_Splice_Site_p.R653_splice|COL13A1_uc021psc.1_Splice_Site_p.R644_splice|COL13A1_uc021psd.1_Splice_Site_p.R626_splice|COL13A1_uc010qjf.2_Splice_Site_p.R603_splice|COL13A1_uc021pse.1_Splice_Site_p.R597_splice|COL13A1_uc021psf.1_Splice_Site_p.R675_splice|COL13A1_uc021psg.1_Splice_Site_p.R653_splice|COL13A1_uc021psh.1_Splice_Site_p.R644_splice	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	675	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AAGGGAAACCGGGTGAGTCTGA	0.510000														44			10		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2818707	2818707	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2818707C>T	uc022aqr.1	-	61	10048	c.9658G>A	c.(9658-9660)Ggt>Agt	p.G3220S	CSMD1_uc011kwj.2_Missense_Mutation_p.G2550S|CSMD1_uc010lrg.3_Missense_Mutation_p.G1112S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3221	Sushi 27.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTGGCGTACCAGGGTCTGGG	0.353000														28			8		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167051693	167051693	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:167051693C>T	uc011bpc.2	-	9	946	c.609G>A	c.(607-609)gaG>gaA	p.E203E	ZBBX_uc003feq.3_Silent_p.E174E|ZBBX_uc003fep.3_Silent_p.E203E	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	203						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATTATTCTCCTCTTTGGGTT	0.328000														57			19		0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157557700	157557700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157557700C>T	uc001fqw.3	-	3	653	c.517G>A	c.(517-519)Gag>Aag	p.E173K	FCRL4_uc010phy.2_Intron	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	173	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ACATCATTCTCGTCTCCATAT	0.318000														18			13		0	0	1	0	0
TESC	54997	broad.mit.edu	37	12	117479781	117479781	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117479781C>T	uc001twh.3	-	6	702	c.538G>A	c.(538-540)Gag>Aag	p.E180K	TESC_uc001twi.3_Non-coding_Transcript|TESC_uc021rem.1_Missense_Mutation_p.E153K	NM_017899	NP_060369	Q96BS2	TESC_HUMAN	Homo sapiens tescalcin (TESC), transcript variant 1, mRNA.	180					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		GTGATCCCCTCGTACACCTGA	0.667000														8			4		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23901876	23901876	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23901876G>A	uc001wjx.3	-	4	580	c.474C>T	c.(472-474)tcC>tcT	p.S158S		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	158	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGGCGTTGTCGGAGATGGAGA	0.607000														141			76		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123498383	123498383	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:123498383G>A	uc001uej.1	-	2	484	c.285C>T	c.(283-285)acC>acT	p.T95T	PITPNM2_uc001uek.1_Silent_p.T95T|PITPNM2_uc009zxu.1_Silent_p.T95T	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	95					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		ACCTGGTTCGGGTGTAGGGGT	0.602000														23			5		0	0	1	0	0
LIF	3976	broad.mit.edu	37	22	30639682	30639682	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:30639682C>T	uc003agz.2	-	2	679	c.567G>A	c.(565-567)ggG>ggA	p.G189G	LIF_uc011aks.1_3'UTR|MGC20647_uc003aha.3_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	Homo sapiens leukemia inhibitory factor (cholinergic differentiation factor) (LIF), mRNA.	189					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GCTTATACTTCCCCAGGAGTT	0.567000														105			47		0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6435711	6435711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6435711G>A	uc001qnr.3	+	13	1790	c.1642G>A	c.(1642-1644)Gag>Aag	p.E548K	PLEKHG6_uc010sew.2_Missense_Mutation_p.E548K|PLEKHG6_uc010sex.2_Missense_Mutation_p.E516K	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	548					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GCCTTCCCTGGAGGGCTCTCA	0.607000														30			8		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14809496	14809496	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:14809496C>T	uc001rcd.3	-	11	1557	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	474					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						AAGATATTTTCAGGAGGAATG	0.358000														107			34		0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17918740	17918740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17918740G>A	uc002nhl.1	+	1	271	c.124G>A	c.(124-126)Gcg>Acg	p.A42T	B3GNT3_uc010ebd.1_Missense_Mutation_p.A42T|B3GNT3_uc010ebe.1_Missense_Mutation_p.A42T	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	42					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCAGCCACCGGCGATCCCCGA	0.677000														51			4		0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139370186	139370186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139370186G>A	uc004chx.3	-	2	2191	c.1882C>T	c.(1882-1884)Cgc>Tgc	p.R628C	SEC16A_uc004chv.4_Missense_Mutation_p.R255C|SEC16A_uc004chw.3_Missense_Mutation_p.R628C|SEC16A_uc010nbn.3_Missense_Mutation_p.R628C|SEC16A_uc010nbo.1_Missense_Mutation_p.R628C	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	450					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)		ACGTTGGCGCGATCTGCCTCA	0.537000														9			3		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1902109	1902109	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1902109C>T	uc001aim.1	-	9	1191	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E	KIAA1751_uc009vkz.1_Silent_p.E345E	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	345										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TCTTCTGGGCCTCCAGCTCCT	0.667000														18			4		0	0	1	0	0
C9orf117	286207	broad.mit.edu	37	9	130473762	130473762	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130473762G>A	uc004brn.1	+	3	882	c.842G>A	c.(841-843)aGa>aAa	p.R281K	PTRH1_uc004brm.3_Intron|C9orf117_uc010mxl.1_Non-coding_Transcript	NM_001012502	NP_001012520	Q5JU67	CI117_HUMAN	Homo sapiens chromosome 9 open reading frame 117 (C9orf117), mRNA.	281										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGGCACAAAAGAGGCCACCAG	0.607000														62			13		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823648	38823648	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38823648C>T	uc003avs.1	-	1	587	c.490G>A	c.(490-492)Gac>Aac	p.D164N	KCNJ4_uc003avt.1_Missense_Mutation_p.D164N|KCNJ4_uc021wpp.1_Missense_Mutation_p.D164N	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	164		Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium (By similarity).			synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity	p.D164E(1)|p.I163I(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ATGAAGGAGTCGATGACGCAG	0.627000														75			6		0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52699043	52699043	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52699043C>T	uc010snq.2	+	5	888	c.755C>T	c.(754-756)tCc>tTc	p.S252F	KRT86_uc009zmg.3_Missense_Mutation_p.S252F|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.S252F	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	252	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GTTCTCCAGTCCCACATCTCA	0.552000														130			21		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176003124	176003124	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176003124G>A	uc021yie.1	+	11	1406	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	CDHR2_uc003mem.2_Missense_Mutation_p.E378K|CDHR2_uc003men.1_Missense_Mutation_p.E378K	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	378	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTACGTGGACGAGCATGCCTC	0.627000														66			18		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858068	9858068	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:9858068G>A	uc010uym.2	-	13	3643	c.3333C>T	c.(3331-3333)agC>agT	p.S1111S	GRIN2A_uc002czo.4_Silent_p.S1111S|GRIN2A_uc010uyn.2_Silent_p.S954S|GRIN2A_uc002czr.4_Silent_p.S1111S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1111					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1111R(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCTAGGGGAGCTTGATTTGG	0.483000														103			47		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77691833	77691833	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77691833G>A	uc011cbx.2	+	9	6357	c.5404G>A	c.(5404-5406)Ggg>Agg	p.G1802R	SHROOM3_uc003hkg.3_Missense_Mutation_p.G1580R	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1802	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGAGGCGAAGGGGAGCCTGCT	0.552000														82			26		0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242042065	242042065	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:242042065C>T	uc021plj.1	+	10	1843	c.1529C>T	c.(1528-1530)tCa>tTa	p.S510L	EXO1_uc001hzh.3_Missense_Mutation_p.S510L|EXO1_uc009xgq.3_Missense_Mutation_p.S509L|EXO1_uc021plk.1_Missense_Mutation_p.S510L	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	510					meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TTTTGCAGTTCAGATTCTACT	0.343000								Editing and processing nucleases						31			12		0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103249038	103249038	+	Silent	SNP	C	T	T	rs62508587		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:103249038C>T	uc001tjq.1	-	5	1055	c.582G>A	c.(580-582)ctG>ctA	p.L194L	PAH_uc010swc.1_Silent_p.L194L	NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	194			L -> P (in PKU).|Missing (in PKU).		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)	ACAAGGACTTCAGAGTCTTGA	0.438000														57			12		0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23927219	23927219	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:23927219G>A	uc002nrk.4	-	3	1275	c.1133C>T	c.(1132-1134)tCc>tTc	p.S378F	ZNF681_uc002nrl.4_Missense_Mutation_p.S309F|ZNF681_uc002nrj.4_Missense_Mutation_p.S309F	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGGTGTGAGGACTGCCTAAA	0.408000														92			35		0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17317979	17317979	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17317979C>T	uc010eak.3	+	34	5702	c.5550C>T	c.(5548-5550)ttC>ttT	p.F1850F	MYO9B_uc002nfi.3_Silent_p.F1850F|MYO9B_uc002nfj.1_Silent_p.F1850F|MYO9B_uc002nfm.1_Silent_p.F10F	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1850	Rho-GAP.|Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCATTATCTTCGCACCCTGCC	0.647000														4			5		0	0	1	0	0
FAH	2184	broad.mit.edu	37	15	80460615	80460615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:80460615C>T	uc002bfm.2	+	6	727	c.563C>T	c.(562-564)cCc>cTc	p.P188L	FAH_uc002bfn.2_Missense_Mutation_p.P118L	NM_000137	NP_000128	P16930	FAAA_HUMAN	Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA.	188					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	p.P188P(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTAAGCCTCCCGTATATGGT	0.493000									Tyrosinemia, type 1					142			18		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17104307	17104307	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17104307G>A	uc002nfb.3	-	11	1358	c.1326C>T	c.(1324-1326)acC>acT	p.T442T		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	395						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAACTTCACTGGTGTAGATGT	0.577000														46			12		0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945091	4945091	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4945091G>A	uc010qyr.2	-	0	479	c.479C>T	c.(478-480)cCc>cTc	p.P160L		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAATGGCAAGGGGAGGATGAG	0.542000														46			19		0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	123989367	123989367	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123989367C>T	uc001pzu.3	+	5	806	c.597C>T	c.(595-597)tgC>tgT	p.C199C	VWA5A_uc001pzr.3_Silent_p.C199C|VWA5A_uc001pzs.3_Silent_p.C199C|VWA5A_uc010sae.2_Silent_p.C215C|VWA5A_uc001pzt.3_Silent_p.C199C	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	199										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						AATCCAACTGCCCCTTGAGTC	0.498000														53			12		0	0	1	0	0
LMAN1	3998	broad.mit.edu	37	18	57013217	57013217	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:57013217G>A	uc002lhz.3	-	7	921	c.889C>T	c.(889-891)Caa>Taa	p.Q297*		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	297					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	AATTCTTGTTGAAAGTGCTCA	0.418000														131			18		0	0	1	0	0
PAOX	196743	broad.mit.edu	37	10	135197711	135197711	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:135197711C>T	uc001lmv.3	+	3	1196	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A	PAOX_uc001lmx.3_Silent_p.A372A|PAOX_uc001lmy.3_Intron|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Intron|PAOX_uc001lnc.3_Intron|PAOX_uc001lmw.3_Intron	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.	510					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TCCTGCCTGCCTTTGCGTACG	0.587000														95			39		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159548022	159548022	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:159548022C>T	uc003ipz.3	+	9	1069	c.806C>T	c.(805-807)tCc>tTc	p.S269F	RXFP1_uc010iqj.2_Missense_Mutation_p.S98F|RXFP1_uc010iqk.3_Missense_Mutation_p.S137F|RXFP1_uc011cja.2_Intron|RXFP1_uc010iqo.3_Missense_Mutation_p.S269F|RXFP1_uc011cjb.2_Missense_Mutation_p.S215F|RXFP1_uc011cjc.2_Missense_Mutation_p.S188F|RXFP1_uc011cjd.2_Missense_Mutation_p.S188F|RXFP1_uc010iql.3_Intron|RXFP1_uc011cje.2_Missense_Mutation_p.S296F|RXFP1_uc010iqm.3_Missense_Mutation_p.S236F|RXFP1_uc011cjf.2_Missense_Mutation_p.S139F|RXFP1_uc010iqn.3_Missense_Mutation_p.S215F	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	269						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.S269F(4)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ACTTTTATTTCCTGCAGTAAT	0.269000														38			10		0	0	1	0	0
MDH2	4191	broad.mit.edu	37	7	75689783	75689783	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:75689783C>T	uc003ueo.3	+	4	608	c.522C>T	c.(520-522)atC>atT	p.I174I	MDH2_uc011kgh.2_Intron|MDH2_uc003uep.3_Silent_p.I67I	NM_005918	NP_005909	P40926	MDHM_HUMAN	Homo sapiens malate dehydrogenase 2, NAD (mitochondrial) (MDH2), nuclear gene encoding mitochondrial protein, mRNA.	174					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	L-malate dehydrogenase activity|binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	CCCTGGACATCGTCAGAGCCA	0.522000														41			23		0	0	1	0	0
HTR3E	285242	broad.mit.edu	37	3	183822058	183822058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183822058C>T	uc010hxr.3	+	1	562	c.368C>T	c.(367-369)cCa>cTa	p.P123L	HTR3E_uc010hxq.3_Missense_Mutation_p.P123L|HTR3E_uc003fml.4_Missense_Mutation_p.P108L|HTR3E_uc003fmm.3_Missense_Mutation_p.P138L|HTR3E_uc003fmn.3_Missense_Mutation_p.P123L	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	123						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.E123D(1)|p.E123K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTGTGGCTCCCAGACATTTTC	0.517000														20			8		0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770152	112770152	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:112770152C>T	uc003kqm.2	-	0	577	c.385G>A	c.(385-387)Gac>Aac	p.D129N	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	129	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		ACGTCCAGGTCGTGGCAGTAC	0.562000														55			10		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490231	65490231	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65490231C>T	uc002aon.2	-	8	2574	c.2393G>A	c.(2392-2394)aGt>aAt	p.S798N		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	798					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGTGATGACACTGTCAAAGCG	0.587000														135			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179441363	179441363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179441363C>T	uc021vsy.1	-	273	62129	c.61904G>A	c.(61903-61905)gGa>gAa	p.G20635E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G14330E|TTN_uc021vta.1_Missense_Mutation_p.G14263E|TTN_uc021vtb.1_Missense_Mutation_p.G14138E|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21562							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E20635E(1)		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)			TTCTTGCAGTCCTGTTACTTT	0.443000														217			87		0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123200717	123200717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:123200717C>T	uc001ucy.4	-	0	723	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	HCAR1_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	190						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	AACATAGCTTCGTGCCACCGG	0.537000														74			22		0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605450	5605450	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrY:5605450C>T	uc004fqo.3	+	4	4224	c.3490C>T	c.(3490-3492)Cta>Tta	p.L1164L	PCDH11Y_uc022ciy.1_5'Flank	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1164					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGCCTCTGCTCTATGCCACAG	0.552000														19			37		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103067330	103067330	+	Silent	SNP	C	T	T	rs140183707	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103067330C>T	uc002tbx.3	+	10	1717	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	IL18RAP_uc010fiz.3_Silent_p.F269F	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	411	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.F411F(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTGATGCTTTCGTATCCTATG	0.343000														78			36		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111090596	111090596	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:111090596G>A	uc004epl.1	-	5	2365	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	TRPC5_uc004epm.1_Silent_p.F482F	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	482					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGATATTGCGAAGAGTGCTT	0.483000														24			18		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94718186	94718186	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94718186C>T	uc001ycs.1	+	15	1972	c.1818C>T	c.(1816-1818)ttC>ttT	p.F606F		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	606						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GTAAATATTTCTTTCTACCTG	0.289000														53			24		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108214637	108214637	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108214637G>A	uc003dxa.1	-	7	818	c.761C>T	c.(760-762)tCc>tTc	p.S254F		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	254	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						AAAACGAGAGGAGTTGTCATT	0.338000														26			7		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152496920	152496921	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152496920_152496921GG>AA	uc021vrb.1	-	58	8662_8663	c.8633_8634CC>TT	c.(8632-8634)ccc>cTT	p.P2878L	NEB_uc002txu.3_Missense_Mutation_p.P2878L|NEB_uc021vrc.1_Missense_Mutation_p.P2878L|NEB_uc010fnx.3_Missense_Mutation_p.P2878L|NEB_uc021vrd.1_Missense_Mutation_p.P2878L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2878					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGCTCTGGTCGGGCAGGCATGT	0.545000														220			70		0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85260961	85260961	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:85260961G>A	uc001szv.3	-	9	2000	c.1507C>T	c.(1507-1509)Ctt>Ttt	p.L503F	SLC6A15_uc010sul.2_Missense_Mutation_p.L396F|BC045559_uc001szx.3_5'Flank	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	503					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AATGCCAGAAGACAACAGATA	0.303000														63			25		0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16852153	16852153	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:16852153G>A	uc002gqs.1	-	2	357	c.344C>T	c.(343-345)cCa>cTa	p.P115L	TNFRSF13B_uc010vwt.1_Non-coding_Transcript|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.P69L	NM_012452	NP_036584	O14836	TR13B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA.	115					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						GAGCTCTGGTGGAAGGTTCAC	0.527000									IgA Deficiency, Selective					84			71		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34778553	34778553	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34778553C>T	uc002xfb.3	+	10	1305	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S	EPB41L1_uc002xeu.3_Silent_p.S316S|EPB41L1_uc010zvo.1_Silent_p.S378S|EPB41L1_uc002xev.3_Silent_p.S378S|EPB41L1_uc002xew.3_Silent_p.S281S|EPB41L1_uc002xex.3_Silent_p.S347S|EPB41L1_uc002xey.3_Silent_p.S305S|EPB41L1_uc002xez.3_Silent_p.S316S	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	378	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGCTGGTGTCCCCTGAGCCCC	0.632000														44			18		0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36714350	36714350	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:36714350G>A	uc003apg.3	-	10	1360	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	MYH9_uc003aph.1_Missense_Mutation_p.L241F	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	377	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ATACCCAAGAGATGGGACACC	0.473000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					228			100		0	0	1	0	0
JA660597	0	broad.mit.edu	37	16	33965525	33965525	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:33965525C>T	uc021thn.1	+	0		c.18C>T								Sequence 663 from Patent WO2010139812.																		ATCGACACTTCGAACGCAATT	0.572000														33			9		0	0	1	0	0
TM4SF20	79853	broad.mit.edu	37	2	228235632	228235632	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228235632C>T	uc002vpb.2	-	2	287	c.249_splice	c.e2+1	p.G83_splice		NM_024795	NP_079071	Q53R12	T4S20_HUMAN	Homo sapiens transmembrane 4 L six family member 20 (TM4SF20), mRNA.	83						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CATACTTACTCCAGTTCTGTT	0.448000														369			151		0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139858	178139858	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178139858G>A	uc003mjj.3	-	4	1219	c.1021C>T	c.(1021-1023)Ctt>Ttt	p.L341F		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	341					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CATCCAGAAAGGGATGTGCTG	0.403000														89			47		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36166615	36166615	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:36166615C>T	uc003gsq.2	-	10	2432	c.2094G>A	c.(2092-2094)agG>agA	p.R698R	ARAP2_uc003gsr.1_Silent_p.R698R	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	698	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						CTGCACAGCTCCTGTTGGATT	0.428000														73			17		0	0	1	0	0
SHISA3	152573	broad.mit.edu	37	4	42403225	42403225	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:42403225C>T	uc003gwp.3	+	1	692	c.474C>T	c.(472-474)ccC>ccT	p.P158P		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	Homo sapiens shisa homolog 3 (Xenopus laevis) (SHISA3), mRNA.	158					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CCAGGGCACCCTCCCGGCAGT	0.667000														162			64		0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30526555	30526555	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:30526555C>T	uc002hgw.3	+	12	1325	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	RHOT1_uc002hgy.3_Silent_p.F362F|RHOT1_uc002hgz.3_Silent_p.F362F|RHOT1_uc002hha.3_Silent_p.F235F|RHOT1_uc010csv.3_Non-coding_Transcript|RHOT1_uc002hgx.3_Silent_p.F235F|RHOT1_uc010wby.2_Silent_p.F362F|RHOT1_uc002hhb.3_Silent_p.F341F|RHOT1_uc002hgv.3_Silent_p.F362F	NM_001033568	NP_001028740	Q8IXI2	MIRO1_HUMAN	Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA.	362					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				ACCAGGGATTCCTTTCCCAGT	0.378000														42			29		0	0	1	0	0
SLC25A15	10166	broad.mit.edu	37	13	41379284	41379284	+	Silent	SNP	C	T	T	rs35434090	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:41379284C>T	uc001uxn.3	+	3	667	c.345C>T	c.(343-345)ttC>ttT	p.F115F	LOC100616668_uc021riq.1_Intron|LOC100616668_uc001uxp.2_Intron|SLC25A15_uc010tfb.2_Silent_p.F21F|LOC100616668_uc001uxo.2_Non-coding_Transcript	NM_014252	NP_055067	Q9Y619	ORNT1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 (SLC25A15), nuclear gene encoding mitochondrial protein, mRNA.	115					cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	CCGGTTCCTTCGCCTCTGCCT	0.547000														103			10		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167170	140167170	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140167170C>T	uc003lhb.2	+	0	1295	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	PCDHAC2_uc003lha.2_Missense_Mutation_p.S432L|PCDHAC2_uc003lgz.3_Missense_Mutation_p.S432L	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	446	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)			GACGGGGGCTCGCCTTCGCTG	0.632000														151			55		0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126051160	126051160	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:126051160G>A	uc003yrt.3	-	24	3325	c.2996C>T	c.(2995-2997)tCa>tTa	p.S999L	KIAA0196_uc011lir.2_Missense_Mutation_p.S851L	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	999					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GTAAGGAAGTGAAGGGTCCTG	0.403000														133			24		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61602272	61602272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61602272C>T	uc010xev.2	+	7	1080	c.990C>T	c.(988-990)aaC>aaT	p.N330N	SERPINB2_uc010xew.2_Silent_p.N330N	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	348					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)	CAGCAAGAAACCTATTTTTGT	0.413000														55			30		0	0	1	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332737	71332737	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:71332737G>A	uc001jpp.3	-	1	309	c.63C>T	c.(61-63)ttC>ttT	p.F21F	NEUROG3_uc021pry.1_Silent_p.F21F	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN	Homo sapiens neurogenin 3 (NEUROG3), mRNA.	21					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						AGGCTCTGGGGAAGGACCGCT	0.677000														62			22		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565276	58565276	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58565276C>T	uc002qrc.1	+	5	1331	c.1084C>T	c.(1084-1086)Cca>Tca	p.P362S		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	362					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V361I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGAGTCCGTCCCACCCAGGGA	0.662000														29			16		0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149356757	149356757	+	Missense_Mutation	SNP	G	A	A	rs72645628	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:149356757G>A	uc003ilj.4	-	1	1619	c.1256C>T	c.(1255-1257)tCg>tTg	p.S419L	NR3C2_uc003ilk.4_Missense_Mutation_p.S419L|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	419	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TGAAGAATCCGAATTTATTTT	0.393000														107			24		0	0	1	0	0
HOMEZ	57594	broad.mit.edu	37	14	23746205	23746205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23746205G>A	uc001wja.2	-	1	380	c.232C>T	c.(232-234)Ccc>Tcc	p.P78S	HOMEZ_uc001wjb.2_Missense_Mutation_p.P80S	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	Homo sapiens homeobox and leucine zipper encoding (HOMEZ), mRNA.	78						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CTGGGATAGGGAAAGTAGCTG	0.537000														126			9		0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122958467	122958467	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:122958467G>A	uc001ucn.3	-	13	1857	c.1701C>T	c.(1699-1701)gtC>gtT	p.V567V	ZCCHC8_uc001ucl.3_Silent_p.V178V|ZCCHC8_uc001ucm.3_Silent_p.V329V|ZCCHC8_uc009zxp.3_Silent_p.V329V|ZCCHC8_uc009zxq.3_Silent_p.V329V	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	Homo sapiens zinc finger, CCHC domain containing 8 (ZCCHC8), mRNA.	567						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTCCCTCCGGGACAGGGAGGT	0.507000														265			97		0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23542422	23542422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:23542422G>A	uc002nre.3	-	3	3472	c.3359C>T	c.(3358-3360)gCt>gTt	p.A1120V	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.A1088V	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	1120						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTTAGTAAGAGCTGAGGACTC	0.398000														93			15		0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6291949	6291949	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6291949C>T	uc001mcp.3	+	3	982	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	CCKBR_uc001mcq.3_Missense_Mutation_p.R171C|CCKBR_uc001mcr.3_Missense_Mutation_p.R243C|CCKBR_uc001mcs.3_Missense_Mutation_p.R243C|CCKBR_uc001mct.1_5'Flank	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	243					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTTATCTCTCGCGAGCTCTA	0.597000														67			38		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86790910	86790910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:86790910G>A	uc002blz.1	+	5	477	c.397G>A	c.(397-399)Ggc>Agc	p.G133S		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	133					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						AGAGTCGAACGGCCGCAGAGC	0.562000														16			3		0	0	1	0	0
LOC286238	286238	broad.mit.edu	37	9	91262450	91262450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:91262450G>A	uc010mql.1	-	1	326	c.193C>T	c.(193-195)Cat>Tat	p.H65Y		NM_001100111	NP_001093581			Homo sapiens uncharacterized LOC286238 (LOC286238), mRNA.																		TATACATAATGAGTTATCATC	0.433000														101			34		0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113803741	113803741	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113803741G>A	uc001pok.3	+	5	760	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	HTR3B_uc001pol.3_Missense_Mutation_p.E197K	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	208					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CAGTGAGTGGGAACTTCTATC	0.473000														57			7		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108872050	108872051	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:108872050_108872051CC>TT	uc010ywo.2	+	3	422_423	c.422_423CC>TT	c.(421-423)ccc>cTT	p.P141L		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	141						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GCCAGAAATCCCAAGGATTGCC	0.421000														114			50		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66436970	66436970	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:66436970C>T	uc002eom.4	+	11	2409	c.2253C>T	c.(2251-2253)tcC>tcT	p.S751S		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	751	Ser-rich.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCGACTCATCCGACTCTGACG	0.622000														26			9		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70541868	70541868	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:70541868C>T	uc001dep.3	+	21	4255	c.4225C>T	c.(4225-4227)Cag>Tag	p.Q1409*	LRRC7_uc009wbg.3_Nonsense_Mutation_p.Q693*|LRRC7_uc001deq.3_Nonsense_Mutation_p.Q603*	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1409						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						CCAGCAATTTCAGTCACCATT	0.522000														60			30		0	0	1	0	0
C11orf35	256329	broad.mit.edu	37	11	556039	556039	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:556039G>A	uc001lpx.3	-	10	1397	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	AX748330_uc001lpy.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	445										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCGCGGATGGAGAGGAGGGG	0.776000														17			8		0	0	1	0	0
C1orf201	90529	broad.mit.edu	37	1	24706163	24706163	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24706163G>A	uc001bjc.3	-	4	609	c.442C>T	c.(442-444)Cct>Tct	p.P148S	C1orf201_uc001bjb.3_Missense_Mutation_p.P56S|C1orf201_uc001bja.3_Missense_Mutation_p.P101S|C1orf201_uc001bjd.3_Missense_Mutation_p.P148S|C1orf201_uc001bjf.3_Missense_Mutation_p.P16S	NM_001199013	NP_001185942	Q5TH74	CA201_HUMAN	Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA.	148										breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	15		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)		TTTGGTGCAGGAGTTTCAAAC	0.383000														172			29		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53012211	53012211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53012211C>T	uc001sas.3	-	0	133	c.98G>A	c.(97-99)cGa>cAa	p.R33Q		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	33	Gly-rich.|Head.					keratin filament	structural molecule activity	p.R33*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCCCCTGCTCGGTAGGAGGA	0.637000														111			39		0	0	1	0	0
TCP10	6953	broad.mit.edu	37	6	167796357	167796357	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:167796357T>A	uc003qvv.1	-	1	217	c.5A>T	c.(4-6)gAg>gTg	p.E2V	TCP10_uc003qvu.3_Missense_Mutation_p.E2V|TCP10_uc003qvw.3_Intron	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	29						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		AGGTGTCTTCTCCATGGCAGC	0.667000														10			5		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431664	140431664	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140431664G>A	uc003lik.1	+	0	686	c.609G>A	c.(607-609)gaG>gaA	p.E203E		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	203	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACCGAGAGGAGCAGCCTG	0.582000														32			5		0	0	1	0	0
GET4	51608	broad.mit.edu	37	7	927046	927046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:927046C>T	uc003sjl.1	+	3	448	c.356C>T	c.(355-357)tCt>tTt	p.S119F	GET4_uc003sjj.1_Non-coding_Transcript	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN	Homo sapiens golgi to ER traffic protein 4 homolog (S. cerevisiae) (GET4), mRNA.	119					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding			breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GACCCCAACTCTCCTGAGCGC	0.622000														95			37		0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205589256	205589256	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205589256G>A	uc001hcy.2	-	2	2168	c.918C>T	c.(916-918)gtC>gtT	p.V306V	SLC45A3_uc021pid.1_Non-coding_Transcript|SLC45A3_uc001hcz.3_Silent_p.V306V	NM_001973	NP_001964	Q96JT2	S45A3_HUMAN	Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA.	0					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TTTCTAGCAAGACTGAATCCT	0.458000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									123			48		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59166625	59166625	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:59166625C>T	uc010dps.1	+	1	605	c.453C>T	c.(451-453)ttC>ttT	p.F151F	CDH20_uc002lif.2_Silent_p.F145F	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	151	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E150Q(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AGTCAGAGTTCATCATCAAAA	0.537000														33			9		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34052145	34052145	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34052145C>T	uc001bxm.1	-	45	7187	c.7010G>A	c.(7009-7011)gGa>gAa	p.G2337E	CSMD2_uc001bxn.1_Missense_Mutation_p.G2339E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2339	Sushi 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGGTAGGTTCCAAGTTTGCA	0.488000														67			17		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90249396	90249396	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:90249396C>T	uc010yts.2	+	40		c.5231_splice	c.e40+1							Parts of antibodies, mostly variable regions.																		TAGTACCCCTCCCACAGTGTT	0.522000														166			58		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43321774	43321774	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43321774G>A	uc002yzw.3	-	11	1759	c.1517C>T	c.(1516-1518)tCg>tTg	p.S506L	C2CD2_uc002yzs.3_5'UTR|C2CD2_uc002yzt.3_Missense_Mutation_p.S122L|C2CD2_uc002yzu.3_Missense_Mutation_p.S338L|C2CD2_uc002yzv.3_Missense_Mutation_p.S351L|C2CD2_uc002yzx.1_Missense_Mutation_p.S351L	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	506						cytosol|extracellular region|nucleus		p.S506L(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CTTCCGTGGCGACTTGAGTTT	0.498000														75			21		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414032	22414032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22414032G>A	uc001yuf.3	+	0	571	c.331G>A	c.(331-333)Gac>Aac	p.D111N	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		GGCTTGCACCGACATGTTTGT	0.507000														92			33		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167279836	167279836	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:167279836C>T	uc002udu.2	-	17	3090	c.2960G>A	c.(2959-2961)tGg>tAg	p.W987*	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	987					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATATGCCATCCATTTTAGAAG	0.318000														51			23		0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76368516	76368516	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:76368516C>T	uc001xrx.3	+	30	4047	c.3772C>T	c.(3772-3774)Ctc>Ttc	p.L1258F	TTLL5_uc001xsa.3_Missense_Mutation_p.L332F	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	1258					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GCTGAATGGACTCCAGAGCAG	0.572000														88			19		0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14577226	14577226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:14577226C>T	uc001rbw.3	+	1	535	c.377C>T	c.(376-378)cCt>cTt	p.P126L	ATF7IP_uc010shs.1_Missense_Mutation_p.P126L|ATF7IP_uc001rbu.3_Missense_Mutation_p.P126L|ATF7IP_uc001rbv.1_Missense_Mutation_p.P126L|ATF7IP_uc001rbx.3_Missense_Mutation_p.P126L|ATF7IP_uc010sht.1_Missense_Mutation_p.P126L|ATF7IP_uc001rby.4_Missense_Mutation_p.P126L|ATF7IP_uc001rbz.1_Missense_Mutation_p.P126L|ATF7IP_uc001rca.3_Missense_Mutation_p.P126L|ATF7IP_uc001rcb.3_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	126					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TCTAAACTGCCTGCTGAACCA	0.473000														65			12		0	0	1	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428286	128428286	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:128428286G>A	uc003ysf.3	+	0	430	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|POU5F1B_uc011liu.1_Non-coding_Transcript	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN	Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA.	59						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						TGAGGTGTGGGGGATTCCCCC	0.667000														26			6		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39019623	39019623	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39019623G>A	uc002oit.3	+	75	11197	c.11067G>A	c.(11065-11067)gaG>gaA	p.E3689E	RYR1_uc002oiu.3_Silent_p.E3684E|RYR1_uc002oiv.1_Silent_p.E604E|RYR1_uc010xuf.1_Silent_p.E609E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3689					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	aggaggaagaggtggaagaga	0.612000														11			7		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120845	94120845	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:94120845C>T	uc003poe.3	-	2	447	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	EPHA7_uc003pof.3_Missense_Mutation_p.R69Q|EPHA7_uc011eac.2_Missense_Mutation_p.R69Q|EPHA7_uc003pog.4_Missense_Mutation_p.R69Q	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	69						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R69Q(2)|p.R69*(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTGGTATGTTCGTATCGGGGT	0.393000														61			35		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10647978	10647978	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:10647978G>A	uc010rcc.1	-	8	1289	c.903C>T	c.(901-903)acC>acT	p.T301T	MRVI1_uc010rcb.1_Silent_p.T293T|MRVI1_uc001miw.2_Silent_p.T292T|MRVI1_uc001mix.3_5'UTR|MRVI1_uc001miz.2_Silent_p.T210T|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	274					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTTTGGGTGTGGTCTCGGGGT	0.567000														25			5		0	0	1	0	0
MOS	4342	broad.mit.edu	37	8	57025542	57025542	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:57025542G>A	uc011leb.2	-	0	1000	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F		NM_005372	NP_005363	P00540	MOS_HUMAN	Homo sapiens v-mos Moloney murine sarcoma viral oncogene homolog (MOS), mRNA.	334	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			TCCACCAAAAGCAGCCGCGCG	0.567000														32			8		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265290	39265290	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:39265290C>T	uc001uwv.3	+	0	4118	c.3809C>T	c.(3808-3810)tCc>tTc	p.S1270F		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1270					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CATGATGACTCCGAGACCCAG	0.428000														250			110		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75977862	75977862	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:75977862G>A	uc002baw.3	-	3	4063	c.3970C>T	c.(3970-3972)Cgc>Tgc	p.R1324C		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1324	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCCTCAGGGCGGGAGTGCAGG	0.682000														17			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179648970	179648970	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179648970C>T	uc021vsy.1	-	15	2827	c.2602G>A	c.(2602-2604)Gag>Aag	p.E868K	TTN_uc021vsz.1_Missense_Mutation_p.E822K|TTN_uc021vta.1_Missense_Mutation_p.E822K|TTN_uc021vtb.1_Missense_Mutation_p.E822K|TTN_uc002unb.2_Missense_Mutation_p.E868K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	868							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)			ACTCTAGTCTCACTGGGCTTC	0.502000														59			30		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62547779	62547779	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:62547779G>A	uc001xfu.1	+	3	1418	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	407	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CGAACATACAGAGAGGGCCCA	0.592000														26			8		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325912	57325912	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57325912G>A	uc002qnu.2	-	6	4249	c.3898C>T	c.(3898-3900)Cac>Tac	p.H1300Y	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H1271Y|PEG3_uc002qnv.2_Missense_Mutation_p.H1300Y|PEG3_uc002qnw.2_Missense_Mutation_p.H1176Y|PEG3_uc002qnx.2_Missense_Mutation_p.H1174Y|PEG3_uc010etr.2_Missense_Mutation_p.H1300Y	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1300					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACAGTTACGTGATCTGCAAGT	0.458000														69			21		0	0	1	0	0
TMEM194A	23306	broad.mit.edu	37	12	57453726	57453726	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57453726G>A	uc001smy.3	-	8	1317	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F	TMEM194A_uc001smx.3_Missense_Mutation_p.S351F|TMEM194A_uc010sra.2_Missense_Mutation_p.S165F	NM_001130963	NP_001124435	O14524	T194A_HUMAN	Homo sapiens transmembrane protein 194A (TMEM194A), transcript variant 1, mRNA.	424						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCCTCAGAGGATGCTTCCTC	0.473000														36			19		0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31805774	31805774	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:31805774C>T	uc002rnw.1	-	1	265	c.194G>A	c.(193-195)gGg>gAg	p.G65E		NM_000348	NP_000339	P31213	S5A2_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2), mRNA.	66					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GGCGAGGATCCCCGCGGGCAC	0.667000														17			5		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28272835	28272835	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:28272835C>T	uc009xky.3	-	5	854	c.756G>A	c.(754-756)gtG>gtA	p.V252V	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Silent_p.V252V|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	252							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CGTGAGGTTTCACCAGCACAT	0.393000														57			27		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367196	107367196	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107367196G>A	uc011lvq.2	-	0	713	c.713C>T	c.(712-714)tCc>tTc	p.S238F		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ACAGGTAGAGGAAGCTTTGCT	0.398000														85			6		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111097299	111097299	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:111097299G>A	uc004epl.1	-	3	1855	c.936C>T	c.(934-936)gcC>gcT	p.A312A	TRPC5_uc004epm.1_Silent_p.A312A	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	312					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACCACAGGGTGGCAAGCAACT	0.488000														5			9		0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982295	57982295	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57982295C>T	uc010rkc.2	+	0	79	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGAATTCATTCTCCTGGGATT	0.413000														125			53		0	0	1	0	0
MRPL44	65080	broad.mit.edu	37	2	224824624	224824624	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:224824624C>T	uc002vnr.4	+	1	622	c.553C>T	c.(553-555)Cca>Tca	p.P185S		NM_022915	NP_075066	Q9H9J2	RM44_HUMAN	Homo sapiens mitochondrial ribosomal protein L44 (MRPL44), nuclear gene encoding mitochondrial protein, mRNA.	185	RNase III.				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGAAGAATTCCCAGTGCCCCC	0.483000														101			45		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79341864	79341864	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:79341864C>T	uc002beq.3	-	3	973	c.598G>A	c.(598-600)Gac>Aac	p.D200N	RASGRF1_uc002bep.3_Missense_Mutation_p.D200N|RASGRF1_uc010blm.1_Missense_Mutation_p.D122N|RASGRF1_uc002ber.4_Missense_Mutation_p.D200N	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	200					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATGTCGCTGTCTTCATCGTTG	0.547000														65			15		0	0	1	0	0
MFSD12	126321	broad.mit.edu	37	19	3547939	3547939	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3547939C>T	uc002lxw.3	-	3	914	c.744G>A	c.(742-744)gaG>gaA	p.E248E	MFSD12_uc002lxx.3_Silent_p.E248E|MFSD12_uc002lxy.3_Silent_p.E239E|MFSD12_uc002lxz.3_Silent_p.E248E	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	248					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CGCCTGGCTCCTCCGCATGCG	0.697000														17			7		0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21548335	21548335	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:21548335C>T	uc001bek.2	-	18	2116	c.2041_splice	c.e18-1	p.A681_splice	ECE1_uc001bem.2_Splice_Site_p.A665_splice|ECE1_uc001bej.2_Splice_Site_p.A669_splice|ECE1_uc001bei.2_Splice_Site_p.A678_splice|ECE1_uc010odl.1_Intron	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	681					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TTCTGGTAAGCCTGGGAGGAG	0.597000														100			54		0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150916563	150916563	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:150916563C>T	uc003eyq.4	-	2	851	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|GPR171_uc021xfy.1_Missense_Mutation_p.R204Q	NM_013308	NP_037440	O14626	GP171_HUMAN	Homo sapiens G protein-coupled receptor 171 (GPR171), mRNA.	204						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTAGAGCTGTCGAATTACAAG	0.328000														45			19		0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105386875	105386875	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105386875G>A	uc010qqu.1	-	5	501	c.434C>T	c.(433-435)tCc>tTc	p.S145F	SH3PXD2A_uc010qqr.2_Missense_Mutation_p.S92F|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.S65F|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.S107F|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.S65F|SH3PXD2A_uc001kxj.1_Missense_Mutation_p.S230F	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	230					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GTTGATGTCGGAGTCATCCCG	0.607000														83			28		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14960278	14960278	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:14960278G>A	uc003bzc.3	+	12	3617	c.3507G>A	c.(3505-3507)atG>atA	p.M1169I	FGD5_uc011avk.2_Missense_Mutation_p.M1169I|FGD5_uc003bzd.3_Missense_Mutation_p.M247I	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	1169	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCCCTGTGATGGAGAAAGTGC	0.597000														54			20		0	0	1	0	0
FAIM2	23017	broad.mit.edu	37	12	50295082	50295082	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:50295082C>T	uc001rvj.2	-	1	227	c.42G>A	c.(40-42)ggG>ggA	p.G14G	FAIM2_uc001rvi.2_5'UTR	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA.	14					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						GCCCCTCGGTCCCAGGGGCCT	0.607000														60			15		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114277759	114277759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:114277759C>T	uc003ibe.4	+	37	8085	c.7985C>T	c.(7984-7986)tCc>tTc	p.S2662F	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S2677F	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2629					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGGTGTCTTCCTCCTCAGAA	0.478000														68			22		0	0	1	0	0
PHF2P1	266695	broad.mit.edu	37	13	19625500	19625500	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19625500G>A	uc001umb.1	-	7		c.3023C>T								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		GGTGGGACAGGAAGGTGGTGA	0.562000														15			5		0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810695	7810695	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7810695G>A	uc002mht.2	-	3	524	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.L129L|CD209_uc002mhr.2_Silent_p.L129L|CD209_uc002mhs.2_Silent_p.L129L|CD209_uc002mhu.2_Silent_p.L153L|CD209_uc010dvq.2_Silent_p.L153L|CD209_uc002mhq.2_Silent_p.L153L|CD209_uc002mhv.2_Silent_p.L129L|CD209_uc002mhx.2_Silent_p.L109L|CD209_uc002mhw.2_Silent_p.L109L|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	153	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.W152R(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCAGCCTTCAGCCAGGTCAGC	0.562000														178			76		0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201287786	201287786	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201287786G>A	uc001gwd.3	+	5	1346	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	PKP1_uc001gwe.3_Silent_p.E365E|PKP1_uc009wzm.3_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	365					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						AGCTGAAGGAGGAACTCATTG	0.597000														46			13		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108872124	108872124	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:108872124G>A	uc010ywo.2	+	3	496	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	166						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GAACTTAGAGGAATTTTATGA	0.428000														94			7		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2437145	2437145	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:2437145C>T	uc010qxl.2	-	7	1128	c.1119G>A	c.(1117-1119)gtG>gtA	p.V373V	TRPM5_uc001lwm.4_Silent_p.V373V|TRPM5_uc009ydn.3_Silent_p.V375V	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	373						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCTTCCACTCCACGTCCCCAT	0.652000														8			3		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69434189	69434189	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69434189C>T	uc021xov.1	-	0	57	c.14G>A	c.(13-15)tGg>tAg	p.W5*		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	5					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GACTGACATCCATTTCAGAGA	0.408000														329			86		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100373312	100373312	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100373312C>T	uc003uwj.3	+	33	6211	c.6046C>T	c.(6046-6048)Ctc>Ttc	p.L2016F	ZAN_uc003uwk.3_Missense_Mutation_p.L2016F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.L104F	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2017	VWFD 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGGTCACCCTCCCCGCCAT	0.567000														59			16		0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33768033	33768033	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:33768033C>T	uc002hjk.1	-	3	2605	c.2275G>A	c.(2275-2277)Ggg>Agg	p.G759R	SLFN13_uc010wch.1_Missense_Mutation_p.G759R|SLFN13_uc002hjl.2_Missense_Mutation_p.G759R|SLFN13_uc002hjm.2_Missense_Mutation_p.G428R|SLFN13_uc010ctt.2_Missense_Mutation_p.G441R	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	759						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCCAGATACCCATGGGGGATA	0.388000														64			41		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699279	60699279	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60699279G>A	uc001nqi.3	+	5	1331	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	TMEM132A_uc001nqj.3_Missense_Mutation_p.E379K|TMEM132A_uc001nqk.3_Missense_Mutation_p.E392K|TMEM132A_uc001nql.1_Missense_Mutation_p.E392K	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	379						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCAGGCCCCTGAAGCAGAGAA	0.592000														101			48		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81236166	81236166	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:81236166G>A	uc002fgh.1	-	5	1082	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	PKD1L2_uc002fgj.3_Missense_Mutation_p.P361L	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	361					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGGCAGAGAGGGCCGGCTCC	0.567000														88			12		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802809	185802809	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:185802809G>A	uc002uph.3	+	3	3280	c.2686G>A	c.(2686-2688)Gag>Aag	p.E896K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	896						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGGTGAAACTGAGCATTTAGA	0.403000														95			28		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230008	21230008	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21230008C>T	uc002red.3	-	25	9860	c.9732G>A	c.(9730-9732)agG>agA	p.R3244R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3244					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTGAAAGGTCCTGGGGAGCT	0.393000														49			15		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417474	150417474	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150417474G>A	uc003whq.3	+	2	522	c.382G>A	c.(382-384)Gac>Aac	p.D128N	GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.D128N	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		CACCGCCCAGGACCAGCAGGC	0.647000														53			7		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140724405	140724405	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140724405C>T	uc003ljm.2	+	0	805	c.805C>T	c.(805-807)Cct>Tct	p.P269S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.P269S	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	269	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)			TGCCACTGACCCTGACGAGGG	0.473000														44			9		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43413570	43413570	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43413570C>T	uc003ouy.1	+	14	3479	c.3264C>T	c.(3262-3264)tcC>tcT	p.S1088S	ABCC10_uc003ouz.1_Silent_p.S1060S|ABCC10_uc010jyo.1_Silent_p.S194S	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1088	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ACAGGGCCTCCTCACGGGAGC	0.667000														59			22		0	0	1	0	0
GLIPR1L1	256710	broad.mit.edu	37	12	75728596	75728596	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:75728596G>A	uc001sxo.3	+	0	134	c.88G>A	c.(88-90)Gac>Aac	p.D30N	CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.3_Missense_Mutation_p.D30N	NM_152779	NP_689992	Q6UWM5	GPRL1_HUMAN	Homo sapiens GLI pathogenesis-related 1 like 1 (GLIPR1L1), mRNA.	30						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						ATCCATCACTGACCCACACTT	0.463000											OREG0021998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			36		0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12006381	12006381	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:12006381C>T	uc001qzz.3	+	3	623	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F		NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	117	PNT.					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CTATGAACTCCTTCAGCATAT	0.443000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""									113			45		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76063292	76063292	+	Missense_Mutation	SNP	C	T	T	rs149762228		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:76063292C>T	uc010kbe.3	-	4	1131	c.601G>A	c.(601-603)Gac>Aac	p.D201N	FILIP1_uc003phy.1_Missense_Mutation_p.D198N|FILIP1_uc003phz.3_Missense_Mutation_p.D99N|FILIP1_uc003pia.3_Missense_Mutation_p.D198N	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	198										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTGAAGTCGTCGCTCTTGTTC	0.532000														162			13		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168289904	168289904	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:168289904C>T	uc021zik.1	+	6	1103	c.784C>T	c.(784-786)Cct>Tct	p.P262S	MLLT4_uc003qwb.1_Missense_Mutation_p.P302S|MLLT4_uc003qwc.2_Missense_Mutation_p.P303S|MLLT4_uc021zij.1_Missense_Mutation_p.P302S|MLLT4_uc003qwf.3_Missense_Mutation_p.P3S|MLLT4_uc021zim.1_5'Flank	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	303	Ras-associating 2.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GGTTATGCTTCCTCCTGGAGC	0.333000			T	MLL	AL									55			44		0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150656705	150656705	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150656705G>A	uc003wic.3	-	2	828	c.427C>T	c.(427-429)Cat>Tat	p.H143Y	KCNH2_uc011kux.2_Missense_Mutation_p.H47Y|KCNH2_uc003wie.3_Missense_Mutation_p.H143Y	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	143	PAC.				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TTGGTGTCATGAGCCGGGGAC	0.592000														65			25		0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59910953	59910953	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:59910953C>T	uc002age.3	+	2	965	c.516C>T	c.(514-516)ttC>ttT	p.F172F	GCNT3_uc002agd.3_Silent_p.F172F|GCNT3_uc021smz.1_Silent_p.F172F	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	172					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGAAACTTTCAAAGAGGCGG	0.463000														121			27		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9916206	9916206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:9916206G>A	uc010uym.2	-	10	2393	c.2083C>T	c.(2083-2085)Cgg>Tgg	p.R695W	GRIN2A_uc002czo.4_Missense_Mutation_p.R695W|GRIN2A_uc010uyn.2_Missense_Mutation_p.R538W|GRIN2A_uc002czr.4_Missense_Mutation_p.R695W	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	695					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAGTTATTCCGAATGTTTCTC	0.458000														75			28		0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108549612	108549612	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108549612G>A	uc003dxi.1	+	1	247	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	TRAT1_uc010hpx.1_Intron	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	35					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.E35K(2)|p.V34V(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CCACTATGTGGAAAAGCAACG	0.428000														86			46		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33246090	33246090	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:33246090C>T	uc021vft.1	+	2	703	c.680C>T	c.(679-681)tCg>tTg	p.S227L		NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	227					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGGACACCTCGTCACCAGTC	0.552000														215			78		0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378278	31378278	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:31378278G>A	uc003tch.3	-	1	958	c.605C>T	c.(604-606)tCa>tTa	p.S202L	NEUROD6_uc022abi.1_Missense_Mutation_p.S202L	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	202					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AGAGTAGGGTGACCTTGTGTG	0.557000														79			19		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21119923	21119923	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:21119923G>A	uc002kum.4	-	17	2921	c.2647C>T	c.(2647-2649)Ctg>Ttg	p.L883L	NPC1_uc010xaz.2_Silent_p.L616L|NPC1_uc010xba.1_Silent_p.L728L	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	883					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCCGCATGCAGGTACTGACTG	0.483000														73			22		0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18765360	18765360	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:18765360G>A	uc010exr.3	-	4	1003	c.891C>T	c.(889-891)ttC>ttT	p.F297F	NT5C1B-RDH14_uc002rcy.3_Silent_p.F355F|NT5C1B-RDH14_uc010yju.2_Silent_p.F295F|NT5C1B-RDH14_uc002rcz.3_Silent_p.F355F|NT5C1B-RDH14_uc010yjw.2_Silent_p.F338F|NT5C1B-RDH14_uc010yjv.2_Silent_p.F372F|NT5C1B-RDH14_uc010exs.3_Silent_p.F357F|NT5C1B-RDH14_uc002rda.3_Silent_p.F295F|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Silent_p.F147F	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	355				S -> W (in Ref. 1; AAK39108).	purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										ATACCTTGACGAAGCGGAACG	0.572000														119			31		0	0	1	0	0
C11orf2	738	broad.mit.edu	37	11	64876153	64876153	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64876153C>T	uc001ocr.1	+	4	1250	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	C11orf2_uc001ocs.1_Missense_Mutation_p.R280C	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	404					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						ACGAGTGGCCCGCGAGCGCCT	0.751000														6			6		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381126	147381126	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:147381126G>A	uc021ovm.1	+	0	1044	c.1044G>A	c.(1042-1044)gaG>gaA	p.E348E	GJA8_uc001epu.2_Silent_p.E348E	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	348					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AGGTGGGAGAGAAGAAGGAGG	0.637000														10			3		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439619	145439619	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:145439619C>T	uc003lnt.3	+	8	1984	c.1746C>T	c.(1744-1746)ctC>ctT	p.L582L	SH3RF2_uc011dbl.1_Silent_p.L582L|SH3RF2_uc011dbm.1_Silent_p.L67L|SH3RF2_uc003lnu.3_Silent_p.L73L|SH3RF2_uc011dbn.1_Silent_p.L73L|SH3RF2_uc011dbo.2_Silent_p.L39L	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	582							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)			AGCCCGCCCTCACGTGCATCA	0.622000														70			19		0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30982993	30982993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30982993C>T	uc002ead.1	+	12	3997	c.3311C>T	c.(3310-3312)cCa>cTa	p.P1104L		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1104	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCAGGCTCCCCAGTCACACCC	0.657000														39			14		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113405329	113405329	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113405329G>A	uc001tug.3	+	12	2883	c.2796G>A	c.(2794-2796)cgG>cgA	p.R932R		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	932	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AGCTACAACGGGACTTCATCA	0.572000														21			8		0	0	1	0	0
TEPP	374739	broad.mit.edu	37	16	58019364	58019364	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:58019364C>T	uc002emv.4	+	5	784	c.747C>T	c.(745-747)ccC>ccT	p.P249P	TEPP_uc002emw.4_Intron	NM_199046	NP_950247	Q6URK8	TEPP_HUMAN	Homo sapiens testis, prostate and placenta expressed (TEPP), transcript variant 1, mRNA.	229						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						CACCGCGCCCCTATCCCTGCT	0.672000														35			19		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160708785	160708785	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:160708785G>A	uc002ubb.4	-	20	2884	c.2810C>T	c.(2809-2811)tCg>tTg	p.S937L	LY75-CD302_uc010fos.3_Missense_Mutation_p.S937L|LY75-CD302_uc002ubc.4_Missense_Mutation_p.S937L	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	937					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TTTCTCTAACGAAGAAACATT	0.373000														84			23		0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74874255	74874255	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:74874255G>A	uc001xpx.2	-	3	948	c.700C>T	c.(700-702)Cag>Tag	p.Q234*		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA.	234					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						TGACCGTTCTGGGACATGTAA	0.642000														77			30		0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158669833	158669833	+	Missense_Mutation	SNP	G	A	A	rs150220329		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158669833G>A	uc001fsu.1	-	0	610	c.610C>T	c.(610-612)Cat>Tat	p.H204Y		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TCCACTGCATGAATGACATCC	0.488000														95			34		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71887770	71887770	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71887770C>T	uc010fen.3	+	44	5133	c.4992C>T	c.(4990-4992)ccC>ccT	p.P1664P	DYSF_uc010fei.3_Silent_p.P1642P|DYSF_uc010feh.3_Silent_p.P1632P|DYSF_uc002sig.4_Silent_p.P1611P|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.P1656P|DYSF_uc010fee.3_Silent_p.P1646P|DYSF_uc010fef.3_Silent_p.P1663P|DYSF_uc002sie.3_Silent_p.P1625P|DYSF_uc010feo.3_Silent_p.P1657P|DYSF_uc010fej.3_Silent_p.P1633P|DYSF_uc010fel.3_Silent_p.P1612P|DYSF_uc010fem.3_Silent_p.P1647P|DYSF_uc002sif.3_Silent_p.P1626P|DYSF_uc010fek.3_Silent_p.P1643P|DYSF_uc010yqy.2_Silent_p.P506P|DYSF_uc010yqz.2_Silent_p.P386P	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1625						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGCTGGAGCCCGTATTTGGAA	0.507000														37			16		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2898716	2898716	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:2898716C>T	uc010ckd.3	+	12	1090	c.1000C>T	c.(1000-1002)Cac>Tac	p.H334Y	RAP1GAP2_uc010cke.3_Missense_Mutation_p.H319Y	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	334	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						GATCATGTTTCACGTTTCCAC	0.587000														55			62		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73636011	73636011	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:73636011G>A	uc002avp.3	-	1	1918	c.924C>T	c.(922-924)atC>atT	p.I308I		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	308					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGACCAAGTCGATGAGGAAGA	0.488000														58			10		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31320253	31320253	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:31320253C>T	uc010dmg.1	+	10	2940	c.2885C>T	c.(2884-2886)tCa>tTa	p.S962L	ASXL3_uc002kxq.2_Missense_Mutation_p.S669L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	962					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCAGAGATATCAAAGAGAAAA	0.423000														11			6		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149508081	149508081	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149508081C>T	uc010lpk.3	+	65	9466	c.9466C>T	c.(9466-9468)Cgt>Tgt	p.R3156C		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3159					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACTGTGGTTCGTCCATGTGA	0.602000														49			6		0	0	1	0	0
RPL13A	23521	broad.mit.edu	37	19	49993505	49993505	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49993505C>T	uc002pny.3	+	2	127	c.105C>T	c.(103-105)gtC>gtT	p.V35V	RPL13A_uc002pnz.3_5'UTR|SNORD33_uc010emz.1_5'Flank|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	Homo sapiens ribosomal protein L13a (RPL13A), mRNA.	35					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		AGGTGGTGGTCGTACGCTGTG	0.577000														39			18		0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141619083	141619083	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141619083G>A	uc003vwu.1	+	0	408	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ACATCATTATGAACAGACACA	0.458000														157			77		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47682233	47682233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47682233C>T	uc003gxm.3	-	7	1150	c.1057G>A	c.(1057-1059)Ggg>Agg	p.G353R	CORIN_uc011bzf.2_Missense_Mutation_p.G214R|CORIN_uc011bzg.2_Missense_Mutation_p.G286R|CORIN_uc011bzh.1_Intron|CORIN_uc011bzi.1_Intron|CORIN_uc003gxn.4_3'UTR	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	353	LDL-receptor class A 3.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.D352N(1)|p.D352H(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ATGCAGCGCCCGTCCCCGCAG	0.532000														36			11		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43771281	43771281	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:43771281G>A	uc010skx.2	-	31	4882	c.4882C>T	c.(4882-4884)Cga>Tga	p.R1628*		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1628	TSP type-1 14.					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)		GGCCGAAGTCGATGGAGCTTA	0.408000														32			8		0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19947154	19947154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:19947154C>T	uc003cbl.4	-	5	1572	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q	EFHB_uc003cbm.3_Missense_Mutation_p.R329Q	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	459					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TGCCATGGCTCGTCCATCATT	0.383000														87			33		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98378568	98378568	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:98378568G>A	uc002syh.4	-	35	5048	c.4819C>T	c.(4819-4821)Ccc>Tcc	p.P1607S	TMEM131_uc002syg.3_5'Flank	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1607						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GCAGCTGGGGGAGACGGGGAA	0.557000														36			17		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113756	59113756	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:59113756C>T	uc001xdw.3	+	3	2579	c.2415C>T	c.(2413-2415)ccC>ccT	p.P805P	DACT1_uc010trv.2_Silent_p.P524P|DACT1_uc001xdx.3_Silent_p.P768P|DACT1_uc010trw.2_Silent_p.P524P	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	805					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						ACAACCACCCCGCAAAAACCT	0.502000														99			30		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004718	248004718	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248004718G>A	uc001idn.1	-	0	481	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L161P(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAAATCATCAGGGAAGGCAGA	0.557000														90			31		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480282	140480282	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140480282C>T	uc003lio.3	+	0	49	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	BC016751_uc003lin.3_Non-coding_Transcript	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	17					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTCTTGCTTCTCTTTGTTTT	0.502000														68			8		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34312544	34312544	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34312544C>T	uc001bxm.1	-	5	1151	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	CSMD2_uc001bxn.1_Missense_Mutation_p.R285Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	285						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAAGTGCAGTCGCAGCCAGTT	0.612000														47			21		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599818	136599818	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:136599818C>T	uc003qgx.1	-	3	454	c.201G>A	c.(199-201)atG>atA	p.M67I	BCLAF1_uc003qgy.1_Missense_Mutation_p.M65I|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.M65I|BCLAF1_uc003qgw.1_Missense_Mutation_p.M67I	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	67					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAGGTCGTCTCATTCCTCTAT	0.428000														87			9		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423464	56423464	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56423464G>A	uc010ygg.2	-	4	1744	c.1719C>T	c.(1717-1719)gtC>gtT	p.V573V		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	573							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGTCAAGCAAGACGTGTTGCA	0.418000														109			40		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178416016	178416016	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178416016C>T	uc003mjr.3	-	5	1453	c.1274G>A	c.(1273-1275)gGg>gAg	p.G425E	GRM6_uc010jla.1_Missense_Mutation_p.G8E|GRM6_uc003mjs.1_Missense_Mutation_p.G45E	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	425					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCCTGTGTGCCCAGGGCAGAG	0.627000														29			6		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93029461	93029461	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:93029461C>T	uc022axs.1	-	2	583	c.396G>A	c.(394-396)ccG>ccA	p.P132P	RUNX1T1_uc003yfc.2_Silent_p.P46P|RUNX1T1_uc010mam.3_Silent_p.P46P|RUNX1T1_uc003yfe.2_Silent_p.P36P|RUNX1T1_uc003yfd.3_Silent_p.P73P|RUNX1T1_uc022axo.1_Silent_p.P73P|RUNX1T1_uc010mao.3_Silent_p.P46P|RUNX1T1_uc011lgi.2_Silent_p.P84P|RUNX1T1_uc022axp.1_Silent_p.P73P|RUNX1T1_uc022axq.1_Silent_p.P73P|RUNX1T1_uc022axr.1_Silent_p.P73P|RUNX1T1_uc022axt.1_Silent_p.P73P|RUNX1T1_uc022axu.1_Silent_p.P53P|RUNX1T1_uc022axv.1_Silent_p.P73P|RUNX1T1_uc003yfb.2_Silent_p.P36P|RUNX1T1_uc003yff.1_Silent_p.P36P|RUNX1T1_uc003yfg.2_Silent_p.P36P	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	73	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TACACGTTGTCGGTGTAAATG	0.388000														84			17		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885060	29885060	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:29885060G>A	uc003afo.3	+	3	1502	c.1431G>A	c.(1429-1431)gaG>gaA	p.E477E	KIAA0845_uc003afp.3_5'Flank	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	477	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						aggagaaagaggccaaagagg	0.507000														20			13		0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	66878844	66878844	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:66878844C>T	uc001vik.3	-	4	4349	c.3657G>A	c.(3655-3657)ctG>ctA	p.L1219L	PCDH9_uc010aei.3_Non-coding_Transcript|PCDH9_uc001vil.3_Silent_p.L1185L|PCDH9_uc010thl.2_Silent_p.L1177L	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	1219					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATAAGACTTCAGATTTGCCA	0.438000														65			20		0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151542595	151542595	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151542595G>A	uc003eze.3	+	3	666	c.576G>A	c.(574-576)ggG>ggA	p.G192G		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	192					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTGCAGGAGGGAATTTAGCTG	0.338000														51			13		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27150156	27150156	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27150156G>A	uc002rhu.4	+	3	614	c.456G>A	c.(454-456)aaG>aaA	p.K152K	DPYSL5_uc002rhv.4_Silent_p.K152K|DPYSL5_uc021vev.1_Silent_p.K152K	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	152					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGGGAGAAGGGTGTCAACT	0.537000														21			7		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54517740	54517740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:54517740G>A	uc002iun.1	+	7	1007	c.972G>A	c.(970-972)atG>atA	p.M324I		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	324	Fibronectin type-III.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AAATCATCATGGATAATCTGC	0.448000														58			19		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20466293	20466293	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:20466293C>T	uc001iqg.1	+	8	1653	c.1016C>T	c.(1015-1017)tCt>tTt	p.S339F	PLXDC2_uc001iqh.1_Missense_Mutation_p.S290F|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	339	PSI.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CCCTGTGTATCTTCTCAGATT	0.348000														133			47		0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32415222	32415222	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:32415222G>A	uc003jhr.1	-	4	716	c.636C>T	c.(634-636)gcC>gcT	p.A212A	ZFR_uc010iun.1_Silent_p.A212A	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	212	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CTGGTTTTATGGCTGTCACTT	0.498000														55			21		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85399759	85399759	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:85399759G>A	uc002ble.3	+	5	2563	c.2396G>A	c.(2395-2397)aGa>aAa	p.R799K		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	799					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)			GAGGATGGGAGAACATCTGCT	0.517000														76			47		0	0	1	0	0
TDP2	51567	broad.mit.edu	37	6	24667042	24667042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:24667042C>T	uc003nej.3	-	0	74	c.49G>A	c.(49-51)Gag>Aag	p.E17K	TDP2_uc010jpu.1_Missense_Mutation_p.E17K|ACOT13_uc010jpv.3_5'Flank|ACOT13_uc003nek.3_5'Flank	NM_016614	NP_057698	O95551	TYDP2_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.	17					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						GGCTCGCCCTCTTCCTCCGCC	0.647000								Direct reversal of damage						242			106		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171384	150171384	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150171384G>A	uc003whj.3	+	3	1297	c.967G>A	c.(967-969)Ggc>Agc	p.G323S		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	323						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)		CATCTGTACAGGCCCCCATGC	0.428000														72			30		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675093	3675093	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3675093G>A	uc002wja.3	-	11	3031	c.3031C>T	c.(3031-3033)Cct>Tct	p.P1011S	SIGLEC1_uc002wiz.4_Missense_Mutation_p.P1011S|SIGLEC1_uc002wjb.1_5'Flank	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1011	Ig-like C2-type 10.				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						TGGGCCGGAGGGTCACTGTCC	0.672000														18			6		0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990672	990672	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:990672C>T	uc003zgw.1	+	1	1124	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	362					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGCCCCCTTTCCCCCAGCCAC	0.587000														58			11		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72926360	72926360	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:72926360G>A	uc001xna.4	+	5	886	c.363G>A	c.(361-363)tcG>tcA	p.S121S	RGS6_uc021rvv.1_Silent_p.S86S|RGS6_uc010ttn.2_Silent_p.S121S|RGS6_uc021rvw.1_Silent_p.S121S|RGS6_uc021rvx.1_Silent_p.S121S|RGS6_uc021rvy.1_Silent_p.S121S|RGS6_uc021rvz.1_Silent_p.S121S|RGS6_uc001xmy.4_Silent_p.S121S|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Silent_p.S121S|RGS6_uc021rwa.1_Silent_p.S121S|RGS6_uc021rwb.1_Silent_p.S121S|RGS6_uc010ttp.1_Silent_p.S52S|RGS6_uc010arg.3_Non-coding_Transcript	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	121					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TCTGGCCTTCGAACTGCTGGG	0.572000														68			19		0	0	1	0	0
AMZ2	51321	broad.mit.edu	37	17	66251903	66251903	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:66251903C>T	uc002jgt.1	+	6	958	c.813C>T	c.(811-813)ctC>ctT	p.L271L	AMZ2_uc002jgs.1_Silent_p.L271L|AMZ2_uc002jgr.1_Silent_p.L271L|AMZ2_uc002jgu.1_Silent_p.L271L|AMZ2_uc002jgv.1_Silent_p.L271L|AMZ2_uc002jgw.1_Silent_p.L213L|AMZ2_uc002jgy.1_Silent_p.L271L	NM_001033570	NP_057711	Q86W34	AMZ2_HUMAN	Homo sapiens archaelysin family metallopeptidase 2 (AMZ2), transcript variant 3, mRNA.	271							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTGCATGCCTCATGCAAGGCT	0.498000														84			42		0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52556597	52556597	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:52556597G>A	uc002lfr.3	+	5	853	c.610G>A	c.(610-612)Gga>Aga	p.G204R		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	204					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		TGGAAATTCTGGAAACTTGGA	0.398000														62			25		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495414	20495414	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:20495414G>A	uc001ytf.1	+	4		c.617G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TGAGGAAAATGAATCCACAGC	0.393000														71			14		0	0	1	0	0
KIF5B	3799	broad.mit.edu	37	10	32320161	32320161	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:32320161A>G	uc001iwe.4	-	13	1891	c.1421T>C	c.(1420-1422)cTg>cCg	p.L474P		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	474					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				AAGGCGATTCAGCTCAGCTTG	0.373000			T	"""RET, ALK"""	NSCLC									50			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069754	9069754	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9069754G>A	uc002mkp.3	-	2	17896	c.17692C>T	c.(17692-17694)Cca>Tca	p.P5898S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5900	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						TCTGAGTGTGGAAATCTCTGA	0.517000														92			26		0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193390	28193390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:28193390C>T	uc003adj.3	-	0	4097	c.3142G>A	c.(3142-3144)Gag>Aag	p.E1048K		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	1048							binding	p.E1048K(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GTGCTCACCTCGTCCGAGGCG	0.627000			T	ETV6	"""AML, meningioma"""									98			7		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696708	153696708	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:153696708C>T	uc004flm.3	+	22	4199	c.4026C>T	c.(4024-4026)ttC>ttT	p.F1342F		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1342					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCGCGCGTTCGTGCTTACCT	0.697000														10			14		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81648681	81648681	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81648681G>A	uc001szl.1	+	15	2132	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	ACSS3_uc001szm.1_Missense_Mutation_p.E680K|ACSS3_uc001szn.1_Missense_Mutation_p.E363K	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	681						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CCACGTAGAAGAAATGCTGAA	0.308000														89			27		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183816	13183816	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:13183816G>A	uc010obg.2	-	1	300	c.57C>T	c.(55-57)ttC>ttT	p.F19F		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	19						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										GATTCCCAATGAACACACGGG	0.458000														88			26		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88300558	88300558	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:88300558G>A	uc001pcq.3	-	6	2493	c.2293C>T	c.(2293-2295)Cca>Tca	p.P765S	GRM5_uc009yvm.3_Missense_Mutation_p.P765S	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	765					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AAGTTAGCTGGAACATTTCTG	0.438000														137			52		0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113303252	113303252	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113303252G>A	uc010syl.2	+	5	626	c.264G>A	c.(262-264)aaG>aaA	p.K88K	RPH3A_uc001ttz.3_Silent_p.K88K|RPH3A_uc001tty.3_Silent_p.K84K|RPH3A_uc009zwe.1_Silent_p.K84K|RPH3A_uc010sym.2_Silent_p.K39K|RPH3A_uc001tua.3_5'Flank	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	88	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ACATGAGGAAGAACGTGGCTG	0.537000														107			7		0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	121002954	121002954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:121002954C>T	uc001typ.4	+	10	2228	c.1745C>T	c.(1744-1746)cCt>cTt	p.P582L	RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Missense_Mutation_p.P493L	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	582					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTTTGCAACCTCCTGTGGTC	0.478000														128			16		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88853872	88853872	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:88853872G>A	uc010kbz.3	-	1	1252	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	CNR1_uc011dzr.2_Silent_p.L374L|CNR1_uc011dzs.2_Silent_p.L374L|CNR1_uc003pmq.4_Silent_p.L374L|CNR1_uc011dzt.2_Silent_p.L374L|CNR1_uc010kca.3_Silent_p.L341L|CNR1_uc021zco.1_Silent_p.L374L	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	374					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CCGTCTTAATGAGCTTGTTCA	0.512000														52			31		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603012	111603012	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:111603012G>A	uc010hqa.3	+	1	499	c.88G>A	c.(88-90)Gat>Aat	p.D30N	PHLDB2_uc003dyc.3_Missense_Mutation_p.D57N|PHLDB2_uc003dyd.3_Missense_Mutation_p.D30N|PHLDB2_uc003dyg.3_Missense_Mutation_p.D30N|PHLDB2_uc003dyh.3_Missense_Mutation_p.D30N|PHLDB2_uc003dye.4_Missense_Mutation_p.D30N|PHLDB2_uc003dyf.4_Missense_Mutation_p.D30N	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	30						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGTTGAGAACGATTCCCAAAA	0.418000														154			68		0	0	1	0	0
OCM	654231	broad.mit.edu	37	7	5925699	5925699	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:5925699C>T	uc003spe.4	+	3	401	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_001097622	NP_001091091	P0CE72	ONCO_HUMAN	Homo sapiens oncomodulin (OCM), mRNA.	103	EF-hand 2.						calcium ion binding			endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		TTCTAGAATTCCAGGAAATGG	0.493000														52			23		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52813459	52813459	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52813459G>A	uc003dfs.3	+	4	452	c.422G>A	c.(421-423)aGa>aAa	p.R141K	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_5'UTR|ITIH1_uc021wzg.1_5'Flank|ITIH1_uc021wzh.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	141	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GCCTCGGGGAGAACTATGGAG	0.507000														31			18		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507732	155507732	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155507732C>T	uc003iod.1	-	4	907	c.849G>A	c.(847-849)acG>acA	p.T283T	FGA_uc003ioe.1_Silent_p.T283T|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	283					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.T283M(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TGGGGCTTTCCGTCTCTGATC	0.542000														133			53		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813411	24813411	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:24813411G>A	uc001iru.4	+	12	3019	c.2616G>A	c.(2614-2616)gcG>gcA	p.A872A	KIAA1217_uc001irs.3_Silent_p.A792A|KIAA1217_uc001irt.4_Silent_p.A837A|KIAA1217_uc010qcy.2_Silent_p.A837A|KIAA1217_uc010qcz.2_Silent_p.A837A|KIAA1217_uc001irv.1_Silent_p.A687A|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Silent_p.A555A|KIAA1217_uc001irz.3_Silent_p.A555A|KIAA1217_uc001irx.3_Silent_p.A555A|KIAA1217_uc001iry.3_Silent_p.A555A	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	872					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTGGCGATGCGAAGTCGGAAG	0.642000														48			18		0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23344336	23344336	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23344336C>T	uc001whd.3	+	3	841	c.288C>T	c.(286-288)tcC>tcT	p.S96S	LRP10_uc001whe.3_5'UTR	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	96	CUB 1.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CACTGATCTCCCTGTGTGAGG	0.622000														49			13		0	0	1	0	0
BEST4	266675	broad.mit.edu	37	1	45250845	45250845	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:45250845C>T	uc001cmm.3	-	5	896	c.847G>A	c.(847-849)Gac>Aac	p.D283N		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	Homo sapiens bestrophin 4 (BEST4), mRNA.	283						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					ATGTCCGGGTCTCCCAGGGCT	0.627000														80			18		0	0	1	0	0
ANO8	57719	broad.mit.edu	37	19	17435792	17435792	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17435792G>A	uc002ngf.2	-	16	3224	c.3065C>T	c.(3064-3066)cCt>cTt	p.P1022L	ANO8_uc010eap.2_Non-coding_Transcript	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	1022						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GAGGAAGGCAGGCAGGCGGGT	0.672000														140			59		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71395335	71395335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:71395335G>A	uc010dfm.3	-	21	3065	c.3065C>T	c.(3064-3066)tCc>tTc	p.S1022F	SDK2_uc002jjt.4_Missense_Mutation_p.S181F|SDK2_uc010dfn.2_Missense_Mutation_p.S701F	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1022	Fibronectin type-III 5.				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						GCGGGAGATGGAGGTTTTCCC	0.637000														24			15		0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77457903	77457903	+	Missense_Mutation	SNP	G	A	A	rs138457062	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:77457903G>A	uc002lnh.2	+	3	683	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	CTDP1_uc002lni.2_Missense_Mutation_p.R179Q|CTDP1_uc010drd.2_Missense_Mutation_p.R179Q|CTDP1_uc021ult.1_Missense_Mutation_p.R60Q	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	179	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CGACTGCACCGAAACCGGAAG	0.473000														42			20		0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156834207	156834207	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156834207G>A	uc001fqh.1	+	1	330	c.274G>A	c.(274-276)Gag>Aag	p.E92K	NTRK1_uc001fqf.1_Missense_Mutation_p.E62K|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Missense_Mutation_p.E92K|NTRK1_uc009wsk.1_Missense_Mutation_p.E92K	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	92					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	p.E92fs*2(1)		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)	GGGCCTGGGGGAGCTGAGAAA	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				29			12		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62036634	62036634	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62036634G>A	uc002jds.1	-	11	2087	c.2010C>T	c.(2008-2010)tcC>tcT	p.S670S		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	670					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCAGACGGAAGGAGCGTAGCA	0.597000														49			17		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48413716	48413716	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48413716G>A	uc001jfa.1	-	1	1312	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	384					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCTTTGTGGGGAACTTGAGAT	0.577000														39			6		0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27348760	27348760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:27348760G>A	uc003xfu.3	+	0	116	c.35G>A	c.(34-36)gGg>gAg	p.G12E	EPHX2_uc010lut.1_Missense_Mutation_p.G12E|EPHX2_uc010luv.3_5'UTR|EPHX2_uc003xfv.3_5'UTR|EPHX2_uc010luw.3_5'UTR	NM_001979	NP_001970	P34913	HYES_HUMAN	Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	12	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	Golgi apparatus|cytosol|focal adhesion|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GACCTTGACGGGGTGCTGGCG	0.741000														8			5		0	0	1	0	0
POU2AF1	5450	broad.mit.edu	37	11	111229584	111229584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:111229584C>T	uc001plg.4	-	1	331	c.76G>A	c.(76-78)Gag>Aag	p.E26K		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	26					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		TTCACTGGCTCCTTCACACGG	0.632000			T	BCL6	NHL									33			10		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424653	56424653	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56424653C>T	uc010ygg.2	-	4	555	c.530G>A	c.(529-531)aGa>aAa	p.R177K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	177							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTATTTTCTTCTGTGGTCTAG	0.413000														108			52		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344390	56344390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56344390C>T	uc001niz.1	-	0	808	c.808G>A	c.(808-810)Gag>Aag	p.E270K	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ATTTTGGACTCCTCTACAGAC	0.423000														192			64		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657294	72657294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:72657294C>T	uc003txs.1	-	12	2618	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		caggagttttctctccatcgc	0.448000														82			45		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237374332	237374332	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:237374332C>T	uc002vwb.2	-	5	797	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	IQCA1_uc002vvz.1_Missense_Mutation_p.E248K|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.E248K	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	248							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GCACTGACTTCATTAAAGAGA	0.418000														18			4		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48286021	48286021	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:48286021C>T	uc010rht.2	+	0	609	c.609C>T	c.(607-609)tcC>tcT	p.S203S		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						ATGGCGGCTCCATCTCCGTAG	0.547000														32			19		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186437989	186437989	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:186437989G>A	uc011bsa.2	+	1	525	c.291G>A	c.(289-291)aaG>aaA	p.K97K	KNG1_uc003fqr.3_Silent_p.K97K|KNG1_uc021xil.1_Silent_p.K97K	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	97	Cystatin 1.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	p.Y96*(1)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GTGAGTACAAGGATGCTGCAA	0.453000														36			23		0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50220340	50220340	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:50220340G>A	uc003cyj.3	+	9	1105	c.907G>A	c.(907-909)Gat>Aat	p.D303N	SEMA3F_uc003cyk.3_Missense_Mutation_p.D272N	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	303	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CCCCCAGAACGATGACGGTGG	0.617000														21			5		0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962425	165962425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:165962425C>T	uc003iqy.1	+	2	1371	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S	TRIM60_uc010iqx.1_Missense_Mutation_p.P401S|TRIM60_uc021xty.1_Missense_Mutation_p.P401S	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	401	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TGCGTCAGGTCCTAAGACAAC	0.428000														111			62		0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14150715	14150715	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:14150715G>A	uc002mxx.3	+	3	950	c.527G>A	c.(526-528)tGg>tAg	p.W176*		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	176	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GAGGCGGCCTGGACCCTGGTG	0.587000														86			47		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40231732	40231732	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:40231732G>A	uc003cka.3	+	9	1578	c.1443G>A	c.(1441-1443)agG>agA	p.R481R	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Silent_p.R481R|MYRIP_uc010hhw.3_Silent_p.R392R|MYRIP_uc011ayz.2_Silent_p.R294R|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	481	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGGCCCCCAGGAACCCTGCAG	0.632000														87			27		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19955098	19955098	+	Silent	SNP	C	T	T	rs113762718		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:19955098C>T	uc010rdm.2	+	7	1738	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	NAV2_uc001mpp.3_Silent_p.F372F|NAV2_uc001mpr.4_Silent_p.F436F|NAV2_uc021qew.1_Silent_p.F436F	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	459						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGCCCAGCTTCGAAGAGAGCG	0.612000														75			33		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78433820	78433820	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:78433820G>A	uc001ozl.4	-	23	4156	c.3693C>T	c.(3691-3693)gcC>gcT	p.A1231A		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1231					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GGGCCACTGGGGCCAGGAGCT	0.577000														90			11		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7708370	7708370	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7708370C>T	uc002giu.1	+	58	9292	c.9278C>T	c.(9277-9279)cCc>cTc	p.P3093L	DNAH2_uc010cnm.1_Intron	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3093	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGGCACTGCCCGCCCTGGAA	0.587000														48			45		0	0	1	0	0
OAT	4942	broad.mit.edu	37	10	126092381	126092381	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:126092381A>G	uc001lhp.3	-	5	890	c.757T>C	c.(757-759)Tgc>Cgc	p.C253R	OAT_uc001lhr.3_Missense_Mutation_p.C115R|OAT_uc001lhq.3_Non-coding_Transcript	NM_000274	NP_001165285	P04181	OAT_HUMAN	Homo sapiens ornithine aminotransferase (OAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	253					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	TGCCTGGTGCAGAGCTCTCGC	0.517000											OREG0020605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			15		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36893798	36893798	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36893798G>A	uc003cgj.3	-	12	4704	c.4456C>T	c.(4456-4458)Cag>Tag	p.Q1486*		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1486					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAATAGAACTGAAGTAAATCC	0.418000														17			4		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90008191	90008191	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:90008191C>T	uc003kju.3	+	41	9226	c.9130C>T	c.(9130-9132)Cag>Tag	p.Q3044*	GPR98_uc003kjt.3_Nonsense_Mutation_p.Q750*|GPR98_uc003kjv.3_Nonsense_Mutation_p.Q644*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3044	Calx-beta 21.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGAAAAATTTCAGCTGATTTT	0.343000														12			4		0	0	1	0	0
ORM1	5004	broad.mit.edu	37	9	117094122	117094122	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117094122G>A	uc011lxo.2	+	4	564	c.453G>A	c.(451-453)acG>acA	p.T151T	ORM1_uc004bil.3_Silent_p.T151T	NM_000607	NP_000598	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 1 (ORM1), mRNA.	151					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	AGCCAGAGACGACCAAGGAGC	0.607000														32			13		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169141143	169141144	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:169141143_169141144GG>AA	uc003maf.3	+	17	1851_1852	c.1771_1772GG>AA	c.(1771-1773)ggg>AAg	p.G591K	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.G83K|DOCK2_uc010jjl.1_Missense_Mutation_p.G109K	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	591	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			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)			CAGTGTTGGGGGGCTTTCTGTC	0.545000														49			22		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106552875	106552875	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:106552875C>T	uc003prd.2	+	4	1074	c.840C>T	c.(838-840)ctC>ctT	p.L280L	PRDM1_uc003pre.3_Silent_p.L146L	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	280					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AAAAGGACCTCGATGACTTTA	0.507000			"""D, N, Mis, F, S"""		DLBCL									199			44		0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236535	33236535	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:33236535G>A	uc001bvu.1	+	5	1799	c.1755G>A	c.(1753-1755)tcG>tcA	p.S585S	KIAA1522_uc010ohm.1_Silent_p.S537S|KIAA1522_uc001bvv.2_Silent_p.S526S|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	526	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GTGGATACTCGAGCCAAAGTG	0.662000														32			20		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41581076	41581076	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:41581076C>T	uc003xok.3	-	7	871	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.A263T|ANK1_uc003xoj.3_Missense_Mutation_p.A263T|ANK1_uc003xol.3_Missense_Mutation_p.A263T|ANK1_uc003xom.3_Missense_Mutation_p.A296T	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	263	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.G262*(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTATCTGGGCTCCCCGATCC	0.652000														100			22		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77347614	77347614	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77347614G>A	uc004ajl.1	-	36	6053	c.5815C>T	c.(5815-5817)Cct>Tct	p.P1939S	TRPM6_uc004ajk.1_Missense_Mutation_p.P1934S|TRPM6_uc022bib.1_Missense_Mutation_p.P1934S|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.P890S|TRPM6_uc010mpd.1_Missense_Mutation_p.P772S|TRPM6_uc010mpe.1_Missense_Mutation_p.P486S|TRPM6_uc004ajj.1_Missense_Mutation_p.P895S	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1939	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTGACTTCAGGTTTTATAACA	0.254000														36			8		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607562	42607562	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:42607562G>A	uc003bcj.1	-	0	3884	c.3750C>T	c.(3748-3750)ccC>ccT	p.P1250P	TCF20_uc003bck.1_Silent_p.P1250P	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCATGATTAAGGGGTTTTGAG	0.463000														96			6		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157085	22157085	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22157085G>A	uc021urr.1	-	3	900	c.751C>T	c.(751-753)Cat>Tat	p.H251Y	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)				TCTCCAGTATGAATTACCTTA	0.353000														47			24		0	0	1	0	0
ZNF559	84527	broad.mit.edu	37	19	9449179	9449179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9449179C>T	uc002mle.4	+	2	553	c.146C>T	c.(145-147)tCt>tTt	p.S49F	ZNF559_uc002mld.3_Missense_Mutation_p.S49F|ZNF559_uc021uoj.1_Intron|ZNF559_uc010xkn.2_Intron|ZNF559_uc021uok.1_5'UTR|ZNF559_uc021uol.1_5'UTR|ZNF559_uc010dwk.2_Missense_Mutation_p.S13F|ZNF559_uc002mlf.3_5'UTR|ZNF559_uc010dwl.2_Missense_Mutation_p.S49F|ZNF559_uc002mlh.2_Non-coding_Transcript|ZNF559_uc021uom.1_5'UTR|ZNF177_uc002mli.3_5'UTR|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GATCATCTTTCTCAAGATGTT	0.388000														40			24		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1437209	1437209	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1437209G>A	uc002qwr.3	+	4	266	c.180_splice	c.e4-1	p.R60_splice	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Splice_Site_p.R60_splice|TPO_uc002qww.3_Splice_Site_p.R60_splice|TPO_uc002qwx.3_Splice_Site_p.R60_splice|TPO_uc002qwu.3_Splice_Site_p.R60_splice|TPO_uc010yio.2_Splice_Site_p.R60_splice|TPO_uc010yip.2_Splice_Site_p.R60_splice	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	60					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ATGTGCCATAGAAACCTCAAG	0.363000														79			10		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38858489	38858489	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38858489G>A	uc021yzh.1	+	57	8644	c.8535G>A	c.(8533-8535)atG>atA	p.M2845I	DNAH8_uc003ooe.2_Missense_Mutation_p.M2628I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATGTGAGATGATTGTGAATT	0.358000														97			43		0	0	1	0	0
KIAA0317	9870	broad.mit.edu	37	14	75136681	75136681	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75136681G>A	uc001xqb.3	-	13	2262	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	KIAA0317_uc010tut.1_Missense_Mutation_p.A425V	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	586	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		TATGATTTGGGCCAGGAAAGA	0.542000														87			32		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240286576	240286576	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240286576C>T	uc010pye.2	+	1	1938	c.1713C>T	c.(1711-1713)ctC>ctT	p.L571L	FMN2_uc010pyd.2_Silent_p.L571L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	571					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGGGTCTTCTCCTTCCTTTTA	0.507000														85			30		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7677065	7677065	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7677065G>A	uc002mgu.4	+	12	1868	c.1767G>A	c.(1765-1767)gtG>gtA	p.V589V	CAMSAP3_uc002mgv.4_Silent_p.V562V|CAMSAP3_uc002mgw.3_5'Flank	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	562					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						ACTCCGAGGTGAAAATGACCA	0.672000														13			7		0	0	1	0	0
HLF	3131	broad.mit.edu	37	17	53398087	53398087	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:53398087C>T	uc002iug.1	+	3	1260	c.735C>T	c.(733-735)gcC>gcT	p.A245A	HLF_uc010dce.1_Silent_p.A160A|HLF_uc002iuh.2_Silent_p.A160A|HLF_uc010wni.1_Silent_p.A192A	NM_002126	NP_002117	Q16534	HLF_HUMAN	Homo sapiens hepatic leukemia factor (HLF), mRNA.	245					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						CCCGCGACGCCCGGAGGCTGA	0.567000			T	TCF3	ALL									42			11		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71871187	71871187	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71871187C>T	uc010fen.3	+	41	4761	c.4620C>T	c.(4618-4620)acC>acT	p.T1540T	DYSF_uc010fei.3_Silent_p.T1518T|DYSF_uc010feh.3_Silent_p.T1508T|DYSF_uc002sig.4_Silent_p.T1487T|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.T1532T|DYSF_uc010fee.3_Silent_p.T1522T|DYSF_uc010fef.3_Silent_p.T1539T|DYSF_uc002sie.3_Silent_p.T1501T|DYSF_uc010feo.3_Silent_p.T1533T|DYSF_uc010fej.3_Silent_p.T1509T|DYSF_uc010fel.3_Silent_p.T1488T|DYSF_uc010fem.3_Silent_p.T1523T|DYSF_uc002sif.3_Silent_p.T1502T|DYSF_uc010fek.3_Silent_p.T1519T|DYSF_uc010yqy.2_Silent_p.T382T|DYSF_uc010yqz.2_Silent_p.T262T	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1501						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATTTTGACACCCTGAAGGTAA	0.507000														14			4		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19747261	19747261	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:19747261C>T	uc003jgd.3	-	3	847	c.313G>A	c.(313-315)Gat>Aat	p.D105N	CDH18_uc011cnm.2_Missense_Mutation_p.D105N|CDH18_uc003jgc.3_Missense_Mutation_p.D105N|CDH18_uc021xwu.1_Missense_Mutation_p.D105N	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	105	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D104_D105>EY(3)|p.D105Y(3)|p.D104E(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCCGTGGTATCGTCAATGATA	0.438000														86			28		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57910260	57910260	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:57910260C>T	uc002aei.3	+	2	323	c.192C>T	c.(190-192)acC>acT	p.T64T	GCOM1_uc002aej.3_Silent_p.T64T|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Silent_p.T64T|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Silent_p.T64T	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	64					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GAGAACCTACCAGGAAACTTC	0.433000														83			20		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949941	198949941	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:198949941G>A	uc010fsp.3	+	1	2098	c.1700G>A	c.(1699-1701)aGg>aAg	p.R567K	PLCL1_uc002uuv.4_Missense_Mutation_p.R488K	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	567	Interaction with GABA A beta subunit (By similarity).				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.C566S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATGTCTCGAAGGATGTCGGTA	0.393000														92			28		0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30255248	30255248	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:30255248C>T	uc001msl.3	+	2	360	c.291C>T	c.(289-291)gcC>gcT	p.A97A	FSHB_uc001msm.3_Silent_p.A97A|FSHB_uc001msn.3_Silent_p.A97A	NM_000510	NP_001018090	P01225	FSHB_HUMAN	Homo sapiens follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 1, mRNA.	97					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	ACCCAGTGGCCACCCAGTGTC	0.498000														36			17		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004702	52004702	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52004702G>A	uc002pwx.1	-	0	342	c.286C>T	c.(286-288)Ctt>Ttt	p.L96F	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	96	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding	p.L96P(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGGTCCCCAAGGAGGTGGAAT	0.542000														161			39		0	0	1	0	0
KLK2	3817	broad.mit.edu	37	19	51379750	51379750	+	Missense_Mutation	SNP	C	T	T	rs147080743		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51379750C>T	uc002ptv.3	+	2	270	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	KLK2_uc010eog.3_5'UTR|KLK2_uc010yck.2_Missense_Mutation_p.R77W|KLK2_uc002ptt.3_Non-coding_Transcript|KLK2_uc010ycl.2_Missense_Mutation_p.R60W|KLK2_uc010ycm.2_5'UTR|KLK2_uc002ptu.3_Missense_Mutation_p.R77W	NM_005551	NP_005542	P20151	KLK2_HUMAN	Homo sapiens kallikrein-related peptidase 2 (KLK2), transcript variant 1, mRNA.	77	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CTGGCTGGGTCGGCACAACCT	0.567000			T	ETV4	prostate									41			16		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124390561	124390562	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124390561_124390562GG>AA	uc001lgk.1	+	45	5829_5830	c.5723_5724GG>AA	c.(5722-5724)ggg>gAA	p.G1908E	DMBT1_uc001lgl.1_Missense_Mutation_p.G1898E|DMBT1_uc001lgm.1_Missense_Mutation_p.G1280E|DMBT1_uc021qaf.1_Missense_Mutation_p.G1908E|DMBT1_uc021qag.1_Missense_Mutation_p.G1898E|DMBT1_uc021qah.1_Missense_Mutation_p.G1280E|DMBT1_uc009xzz.1_Missense_Mutation_p.G1908E|DMBT1_uc010qtx.1_Missense_Mutation_p.G628E|DMBT1_uc009yab.1_Missense_Mutation_p.G611E|DMBT1_uc009yac.1_Missense_Mutation_p.G202E	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1908	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGCACCTGGGGGACAGTTTGTG	0.480000														39			17		0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32089063	32089063	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32089063G>A	uc003nzn.3	-	5	574	c.541C>T	c.(541-543)Ctc>Ttc	p.L181F	ATF6B_uc003nzo.3_Missense_Mutation_p.L178F|ATF6B_uc003nzp.1_5'Flank|ATF6B_uc011dpg.2_Missense_Mutation_p.L115F|ATF6B_uc011dph.2_Missense_Mutation_p.L181F	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	181					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCGGCTGAGAGCAGGGAGGCC	0.537000														22			5		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	123987692	123987692	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:123987692G>A	uc003ehg.3	+	4	680	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	KALRN_uc010hrv.1_Missense_Mutation_p.E185K|KALRN_uc003ehf.1_Missense_Mutation_p.E185K|KALRN_uc011bjy.1_Missense_Mutation_p.E185K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	185					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTGGATCGAACTGCGGCT	0.602000														48			18		0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75107456	75107456	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:75107456C>T	uc002snd.3	+	9	3256	c.1330C>T	c.(1330-1332)Cgc>Tgc	p.R444C		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	444	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.L443L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CCGCTTCCTCCGCTCCGAGGA	0.617000														228			113		0	0	1	0	0
C6orf221	154288	broad.mit.edu	37	6	74073372	74073372	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:74073372C>T	uc003pgt.4	+	2	496	c.443C>T	c.(442-444)tCg>tTg	p.S148L		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	148										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						ACGCAGCGTTCGGTGGAGGTC	0.677000														31			28		0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200635747	200635747	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:200635747G>A	uc009wzk.3	-	1	365	c.122C>T	c.(121-123)cCc>cTc	p.P41L	DDX59_uc010ppl.1_Missense_Mutation_p.P41L	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA.	41						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AGCATCAACGGGAACATCTCT	0.468000														139			50		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702757	27702757	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:27702757G>A	uc001itu.2	-	0	541	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	141					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCGCCAGCAGGAAGATCCAGG	0.662000														78			30		0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46916050	46916050	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46916050C>T	uc002pep.3	-	0	870	c.18G>A	c.(16-18)gaG>gaA	p.E6E		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	6						plasma membrane		p.E6*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		agtcgacgtcctccccgatct	0.602000														46			8		0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46754528	46754528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46754528C>T	uc003cqe.1	-	4	1266	c.784G>A	c.(784-786)Gag>Aag	p.E262K	PRSS50_uc021wxe.1_Missense_Mutation_p.E262K|PRSS50_uc003cqf.2_Missense_Mutation_p.E176K	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	262	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACTTCCTTCTCCTGAATGGTC	0.532000														189			81		0	0	1	0	0
BC070322	0	broad.mit.edu	37	9	69634669	69634669	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:69634669G>A	uc004afu.3	-	2		c.402C>T								Homo sapiens aquaporin 7 pseudogene 2, mRNA (cDNA clone IMAGE:30406582).																		GATGCGGGGGGGGCAGGTCCC	0.572000														191			12		0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130982538	130982538	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130982538G>A	uc022bob.1	+	5	854	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	DNM1_uc022bnx.1_Missense_Mutation_p.R256Q|DNM1_uc022bny.1_Missense_Mutation_p.R256Q|DNM1_uc022bnz.1_Missense_Mutation_p.R256Q|DNM1_uc022boa.1_Missense_Mutation_p.R256Q	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	256					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	p.R256L(3)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GCTGCTGAACGAAAGTTCTTC	0.547000														100			61		0	0	1	0	0
REPIN1	29803	broad.mit.edu	37	7	150069245	150069245	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150069245C>T	uc022apt.1	-	0	789	c.421G>A	c.(421-423)Ggg>Agg	p.G141R	REPIN1_uc003whd.2_Silent_p.P294P|REPIN1_uc010lpq.1_Silent_p.P305P|REPIN1_uc010lpr.1_Silent_p.P362P|REPIN1_uc003whc.2_Silent_p.P305P|REPIN1_uc003whe.2_Silent_p.P305P			Q9BWE0	REPI1_HUMAN	Homo sapiens mRNA; cDNA DKFZp762K135 (from clone DKFZp762K135).	0					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GGCACAAACCCAACCTGCTGT	0.672000														16			11		0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30510853	30510853	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30510853G>A	uc010gdx.1	+	7	914	c.661G>A	c.(661-663)Gga>Aga	p.G221R	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Missense_Mutation_p.G108R|TTLL9_uc010ztp.1_Non-coding_Transcript|TTLL9_uc010ztq.1_Non-coding_Transcript	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	221	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	p.I220M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTACCTGATAGGAGGTGAGAT	0.483000														73			27		0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48255634	48255634	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:48255634G>A	uc002lev.3	+	5	2174	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	MAPK4_uc010xdm.2_Missense_Mutation_p.D181N|MAPK4_uc010doz.3_3'UTR	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	392					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		ACTGGCTGAGGACGTGCAGGT	0.701000														26			8		0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445462	87445462	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:87445462G>A	uc002fjz.1	-	11	2481	c.2454C>T	c.(2452-2454)tcC>tcT	p.S818S	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Silent_p.S594S	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	818					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGGTGAACACGGACGGACCGG	0.652000														11			3		0	0	1	0	0
SPC25	57405	broad.mit.edu	37	2	169730139	169730139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169730139G>A	uc002uel.3	-	5	637	c.506C>T	c.(505-507)cCa>cTa	p.P169L		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.	169	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						AAACATAAATGGGCTCTCAGG	0.338000														153			29		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018713	62018713	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62018713G>A	uc002jds.1	-	23	5006	c.4929C>T	c.(4927-4929)ttC>ttT	p.F1643F		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1643					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGTGTCCACGAAGTCTGAGA	0.567000														62			19		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179732796	179732796	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179732796G>A	uc002une.2	-	15	2649	c.2531C>T	c.(2530-2532)gCc>gTc	p.A844V	CCDC141_uc002unf.1_Missense_Mutation_p.A323V	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	269	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TAAGGAAAGGGCCAGTCTGTG	0.522000														72			16		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876232	35876232	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35876232G>A	uc003jjs.3	+	7	1113	c.1024G>A	c.(1024-1026)Ggg>Agg	p.G342R	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	342					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GAGGCTTGGAGGGGATGTGCA	0.488000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							41			17		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7828164	7828164	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7828164C>T	uc010dvt.3	+	0	130	c.12C>T	c.(10-12)tcC>tcT	p.S4S	CLEC4M_uc010xjv.1_Silent_p.S4S|CLEC4M_uc002mhy.2_Silent_p.S4S|CLEC4M_uc002mih.3_Silent_p.S4S|CLEC4M_uc010xjw.2_Silent_p.S4S|CLEC4M_uc010dvs.3_Silent_p.S4S|CLEC4M_uc010xjx.2_Silent_p.S4S|CLEC4M_uc002mhz.3_Silent_p.S4S|CLEC4M_uc002mic.3_Silent_p.S4S|CLEC4M_uc002mia.3_Silent_p.S4S	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	4					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TGAGTGACTCCAAGGAACCAA	0.547000														47			70		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9021059	9021059	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9021059C>T	uc002mkp.3	-	18	37468	c.37264G>A	c.(37264-37266)Ggt>Agt	p.G12422S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12424	SEA 3.				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						CTCACCAGACCCTGCAGGACC	0.547000														129			29		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11532847	11532847	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11532847G>A	uc002gne.3	+	6	1532	c.1464G>A	c.(1462-1464)gaG>gaA	p.E488E		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	488	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AATTTCAAGAGATGTACAGGC	0.557000														47			33		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123519851	123519851	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:123519851G>A	uc010nqy.3	-	28	5816	c.5752C>T	c.(5752-5754)Ctg>Ttg	p.L1918L	ODZ1_uc011muj.2_Silent_p.L1917L|ODZ1_uc004euj.3_Silent_p.L1911L	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1911					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						ACTGAGAGCAGACAATCTGGT	0.498000														18			24		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73434899	73434899	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73434899G>A	uc001jrx.4	+	13	1864	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	CDH23_uc001jry.3_Missense_Mutation_p.E492K|CDH23_uc001jrz.3_Missense_Mutation_p.E492K	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	494	Cadherin 5.				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						CACCTTTGGGGAAGTCAGCTA	0.572000														34			10		0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151115019	151115019	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151115019G>A	uc001ewv.3	-	2	415	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S	SEMA6C_uc001ewu.3_Missense_Mutation_p.P27S|SEMA6C_uc001eww.3_Missense_Mutation_p.P27S|SEMA6C_uc009wml.2_Intron	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	27						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGTCCTGGGGAAAGGCGGCC	0.607000														22			16		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072864	17072864	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17072864C>T	uc002zlp.1	-	0	837	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	193					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCGTCTAGTTCCTTGATAGCC	0.612000														72			27		0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241405670	241405670	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241405670T>A	uc002vyw.4	+	8	1861	c.1640T>A	c.(1639-1641)tTc>tAc	p.F547Y		NM_002081	NP_002072	P35052	GPC1_HUMAN	Homo sapiens glypican 1 (GPC1), mRNA.	547					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CTCCTCCTCTTCCTGGCCCTT	0.632000														59			5		0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126916055	126916055	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:126916055G>A	uc003eji.1	+	1	767	c.527G>A	c.(526-528)gGa>gAa	p.G176E						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCATCCAGAGGAGCTCCCTAC	0.647000														47			24		0	0	1	0	0
C9	735	broad.mit.edu	37	5	39331902	39331902	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:39331902C>T	uc003jlv.4	-	4	580	c.491G>A	c.(490-492)gGg>gAg	p.G164E		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	164	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		p.G164W(1)		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)			GGGATCCATCCCTAAAATGTT	0.458000														165			12		0	0	1	0	0
GPD1	2819	broad.mit.edu	37	12	50501529	50501529	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:50501529C>T	uc001rvz.3	+	5	825	c.792C>T	c.(790-792)acC>acT	p.T264T	GPD1_uc001rwa.3_Silent_p.T241T	NM_005276	NP_005267	P21695	GPDA_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA.	264					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	TGATCACTACCTGCTATGGAG	0.592000														171			17		0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53236939	53236939	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:53236939C>T	uc001cuj.3	+	2	639	c.444C>T	c.(442-444)ctC>ctT	p.L148L	ZYG11B_uc009vzg.3_Non-coding_Transcript|ZYG11B_uc010onj.2_Silent_p.L139L	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	148							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CATTAACTCTCTCCCTCGAGG	0.473000														78			10		0	0	1	0	0
METTL4	64863	broad.mit.edu	37	18	2566965	2566965	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:2566965C>T	uc002klh.4	-	1	1031	c.251G>A	c.(250-252)cGa>cAa	p.R84Q		NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	Homo sapiens methyltransferase like 4 (METTL4), mRNA.	84					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AACAAATTTTCGTGTGAACAT	0.393000														96			31		0	0	1	0	0
CD300LB	124599	broad.mit.edu	37	17	72522000	72522001	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72522000_72522001GT>AA	uc002jkx.2	-	1	380_381	c.367_368AC>TT	c.(367-369)acg>TTg	p.T123L	CD300LB_uc010wqz.1_Missense_Mutation_p.T123L	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA.	86						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CACAGTGAACGTGCGGTCTTTC	0.525000														134			65		0	0	1	0	0
NDUFV1	4723	broad.mit.edu	37	11	67379625	67379625	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67379625C>T	uc001omj.2	+	8	1350	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	NDUFV1_uc010rpv.1_Silent_p.F298F|NDUFV1_uc001omk.4_Silent_p.F390F|NDUFV1_uc001oml.2_Silent_p.F392F|NDUFV1_uc010rpw.1_Silent_p.F108F	NM_007103	NP_009034	P49821	NDUV1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	399					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	TGGCACGTTTCGTGAGGGGGG	0.622000														102			49		0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102269264	102269264	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:102269264G>A	uc001krc.1	-	3	310	c.208C>T	c.(208-210)Cac>Tac	p.H70Y	SEC31B_uc010qpo.1_Missense_Mutation_p.H70Y|SEC31B_uc001krd.1_Intron|SEC31B_uc001krf.1_Intron|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'Flank|SEC31B_uc010qpp.1_Missense_Mutation_p.H70Y|SEC31B_uc009xwn.1_Missense_Mutation_p.H70Y|SEC31B_uc009xwo.1_Missense_Mutation_p.H70Y|SEC31B_uc010qpq.1_Intron|SEC31B_uc010qpr.1_Intron	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	70					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACCAGCTTGTGAAACCTATAA	0.502000											OREG0020441	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			9		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42185719	42185719	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:42185719G>A	uc001uyj.3	-	38	4940	c.4870C>T	c.(4870-4872)Cag>Tag	p.Q1624*		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1624						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GACCTCTGCTGGAATGCTCTC	0.512000														109			31		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874347	36874348	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36874347_36874348GG>AA	uc003cgj.3	-	20	6842_6843	c.6594_6595CC>TT	c.(6592-6597)ttccct>ttTTct	p.P2199S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2199					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAGATTTTAGGGAATACTTTTT	0.401000														43			18		0	0	1	0	0
POLR1C	9533	broad.mit.edu	37	6	43484866	43484866	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43484866G>A	uc003ovn.3	+	0	90	c.19G>A	c.(19-21)Gtg>Atg	p.V7M	YIPF3_uc003ovl.2_5'Flank|YIPF3_uc011dvk.2_5'Flank|POLR1C_uc003ovo.2_Missense_Mutation_p.V7M	NM_203290	NP_976035	O15160	RPAC1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide C, 30kDa (POLR1C), mRNA.	7					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TTCTCAGGCGGTGGAGGAAAT	0.612000														98			30		0	0	1	0	0
SEH1L	81929	broad.mit.edu	37	18	12982560	12982560	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:12982560C>T	uc002krq.3	+	6	943	c.805C>T	c.(805-807)Cat>Tat	p.H269Y	SEH1L_uc002krr.3_Missense_Mutation_p.H269Y	NM_001013437	NP_001013455	Q96EE3	SEH1_HUMAN	Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA.	269					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GTTTGAAATCCATATAGTGGC	0.383000														114			11		0	0	1	0	0
TNFSF11	8600	broad.mit.edu	37	13	43181040	43181040	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:43181040C>T	uc001uyu.2	+	4	1089	c.940C>T	c.(940-942)Cga>Tga	p.R314*	TNFSF11_uc001uyt.2_Nonsense_Mutation_p.R241*	NM_003701	NP_143026	O14788	TNF11_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.	314					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell activation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of osteoclast differentiation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TTTTAAAGTTCGAGATATAGA	0.408000														74			31		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32636195	32636195	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:32636195C>T	uc001mtv.3	-	15	1713	c.1669G>A	c.(1669-1671)Gga>Aga	p.G557R		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	557										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ACATCTAATCCTCTGGTTCTT	0.294000														30			11		0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120363267	120363267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:120363267G>A	uc003edw.3	-	9	1133	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C	HGD_uc003edv.3_Missense_Mutation_p.R84C	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	225			R -> H (in AKU).		L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	p.P224S(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AAGAAATCACGAGGATTGGCC	0.443000														66			25		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78380231	78380231	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:78380231C>T	uc001ozl.4	-	31	7622	c.7159G>A	c.(7159-7161)Gag>Aag	p.E2387K	ODZ4_uc001ozk.4_Missense_Mutation_p.E612K	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2387					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						ATGTAGATCTCCCCATAGGCT	0.483000														32			4		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78853912	78853912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:78853912G>A	uc004akc.2	+	22	3442	c.2904G>A	c.(2902-2904)gaG>gaA	p.E968E		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	664					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.E968E(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ACCAGGGAGAGTGTGGAGATA	0.527000														12			8		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62676119	62676119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62676119C>T	uc021ooc.1	+	4	2108	c.1673C>T	c.(1672-1674)cCc>cTc	p.P558L	L1TD1_uc001dae.4_Missense_Mutation_p.P558L	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	558										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TTGGCCTCTCCCTCAAAGTCA	0.438000														70			29		0	0	1	0	0
HSF2BP	11077	broad.mit.edu	37	21	44949807	44949807	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:44949807G>A	uc002zdi.3	-	8	1164	c.832C>T	c.(832-834)Ctt>Ttt	p.L278F	HSF2BP_uc011aey.2_Missense_Mutation_p.L203F	NM_007031	NP_008962	O75031	HSF2B_HUMAN	Homo sapiens heat shock transcription factor 2 binding protein (HSF2BP), mRNA.	278					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GACTGGACAAGCCTCAGTACA	0.458000														49			24		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89999523	89999523	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89999523C>T	uc003kju.3	+	34	8293	c.8197C>T	c.(8197-8199)Cga>Tga	p.R2733*	GPR98_uc003kjt.3_Nonsense_Mutation_p.R439*|GPR98_uc003kjv.3_Nonsense_Mutation_p.R333*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2733					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTCCCTGGTCGAGGAAATGT	0.318000														21			9		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103143635	103143635	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:103143635G>A	uc022ajr.1	-	51	8477	c.8317C>T	c.(8317-8319)Caa>Taa	p.Q2773*	RELN_uc022ajq.1_Nonsense_Mutation_p.Q2773*|RELN_uc010liz.3_Nonsense_Mutation_p.Q2773*	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2773					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)		ACATGAATTTGATTCTGGGCA	0.383000														91			9		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55684615	55684615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55684615C>T	uc003pcq.3	-	1	1233	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	BMP5_uc011dxf.2_Missense_Mutation_p.R174Q	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	174					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTAATGCCTTCGCTGGTGAGA	0.378000														63			22		0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462037	5462037	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5462037C>T	uc010qze.2	-	0	747	c.708G>A	c.(706-708)cgG>cgA	p.R236R	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCCTTGAGCCGCTGTTCCT	0.478000														32			13		0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563993	8563993	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8563993G>A	uc002mkd.3	-	1	762	c.699C>T	c.(697-699)gtC>gtT	p.V233V		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	281	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GGAGGCCACCGACCTGAGGCT	0.632000														32			13		0	0	1	0	0
PTF1A	256297	broad.mit.edu	37	10	23482809	23482809	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:23482809G>A	uc001irp.3	+	1	961	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	Homo sapiens pancreas specific transcription factor, 1a (PTF1A), mRNA.	321					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CATAGAAAACGAACCACCATT	0.398000														132			38		0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52884373	52884373	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52884373C>T	uc001sam.3	-	4	1266	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	353	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TACCAGGACTCAGCCTCAGCC	0.577000														174			91		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179407830	179407830	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179407830C>T	uc021vsy.1	-	295	89391	c.89166G>A	c.(89164-89166)gaG>gaA	p.E29722E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.E23417E|TTN_uc021vta.1_Silent_p.E23350E|TTN_uc021vtb.1_Silent_p.E23225E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30649	Fibronectin type-III 116.						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)			CTGTGACAGTCTCTCTTGGTT	0.368000														207			95		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13397765	13397765	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:13397765G>T	uc002mwy.3	-	19	3341	c.3105C>A	c.(3103-3105)tcC>tcA	p.S1035S	CACNA1A_uc010dzc.2_Silent_p.S561S|CACNA1A_uc010xnd.2_Silent_p.S1038S|CACNA1A_uc021ups.1_Silent_p.S1035S|CACNA1A_uc010xne.2_Silent_p.S1038S|CACNA1A_uc010dze.2_Silent_p.S1035S|CACNA1A_uc021upt.1_Silent_p.S1036S	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1036					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CAGGGACCCCGGAGCCCTGGT	0.537000														16			18		2.94398e-08	2.95241e-08	1	1	0
RPH3A	22895	broad.mit.edu	37	12	113285537	113285537	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113285537G>A	uc010syl.2	+	4	482	c.120G>A	c.(118-120)caG>caA	p.Q40Q	RPH3A_uc001ttz.3_Silent_p.Q40Q|RPH3A_uc001tty.3_Silent_p.Q36Q|RPH3A_uc009zwe.1_Silent_p.Q36Q|RPH3A_uc010sym.2_Intron	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	40					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCGGTGGTCAGCCTGACAGGC	0.532000														78			39		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112648	148112648	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:148112648G>A	uc003weu.2	+	23	4452	c.3936G>A	c.(3934-3936)atG>atA	p.M1312I	CNTNAP2_uc003wev.2_Missense_Mutation_p.M89I	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1312					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCGCCATCATGAACAACGACC	0.542000										HNSCC(39;0.1)				81			14		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137623485	137623485	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:137623485G>A	uc004cfe.3	+	7	1690	c.1308G>A	c.(1306-1308)gcG>gcA	p.A436A		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	436	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.A436A(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAATGCCGGCGAACCAGGATA	0.637000														97			14		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10089654	10089654	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10089654C>T	uc002mmq.1	-	39	2963	c.2877G>A	c.(2875-2877)ggG>ggA	p.G959G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	959	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)			GTCCCAGTTCCCCCTACAGGA	0.622000														16			3		0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24918476	24918476	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:24918476G>A	uc002dmu.3	+	11	1476	c.1245G>A	c.(1243-1245)aaG>aaA	p.K415K	SLC5A11_uc002dms.3_Silent_p.K351K|SLC5A11_uc010vcd.2_Silent_p.K380K|SLC5A11_uc002dmt.3_Silent_p.K259K|SLC5A11_uc010vce.2_Silent_p.K345K|SLC5A11_uc010bxt.3_Silent_p.K351K|SLC5A11_uc002dmv.3_Silent_p.K38K	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	415					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CATCTGAGAAGGAGCTCATGA	0.602000														125			25		0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52472065	52472066	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52472065_52472066GG>AA	uc003dea.1	-	13	1659_1660	c.1659_1660CC>TT	c.(1657-1662)agcctt>agTTtt	p.L554F		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	554					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CGCTTGCCAAGGCTGGGGCGGT	0.668000														32			9		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153661465	153661466	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153661465_153661466CC>TT	uc001fcs.4	+	15	2875_2876	c.2454_2455CC>TT	c.(2452-2457)tcccgc>tcTTgc	p.R819C	NPR1_uc010pdz.2_Missense_Mutation_p.R565C|NPR1_uc010pea.2_Missense_Mutation_p.R297C	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	819					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ACCTGCTGTCCCGCATGGAGCA	0.629000														154			39		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136562369	136562369	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136562369C>T	uc002tuu.1	-	9	4443	c.4432G>A	c.(4432-4434)Gat>Aat	p.D1478N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1478	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCAGTGTATCGATGAGCCTC	0.587000														34			13		0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65145865	65145865	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:65145865C>T	uc003hcv.3	-	11	1126	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	TECRL_uc010ihi.3_Non-coding_Transcript	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	339					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCTTATGTTTCTTTTGTGCCC	0.254000														37			13		0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107380208	107380208	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107380208G>A	uc011lvr.2	-	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						GCCAGAAAAGGAAATGGTCTT	0.502000														120			32		0	0	1	0	0
RPUSD3	285367	broad.mit.edu	37	3	9882454	9882454	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:9882454G>A	uc011atk.2	-	4	447	c.443C>T	c.(442-444)cCc>cTc	p.P148L	TTLL3_uc003btc.2_Intron|RPUSD3_uc011atl.2_Missense_Mutation_p.P133L|RPUSD3_uc011atm.1_Missense_Mutation_p.P140L|RPUSD3_uc003btn.2_3'UTR	NM_173659	NP_775930	Q6P087	RUSD3_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 3 (RPUSD3), transcript variant 1, mRNA.	148					pseudouridine synthesis		RNA binding|pseudouridine synthase activity			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					AGCTGTCTGGGGACAGCTGGA	0.527000														30			8		0	0	1	0	0
BZW2	28969	broad.mit.edu	37	7	16714053	16714053	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:16714053C>T	uc003stj.2	+	2	237	c.75C>T	c.(73-75)ttC>ttT	p.F25F	BZW2_uc011jxx.1_5'UTR|BZW2_uc003stl.2_Silent_p.F25F|BZW2_uc003stm.2_5'UTR|BZW2_uc003stn.1_Silent_p.F25F|BZW2_uc003sto.1_5'UTR	NM_014038	NP_054757	Q9Y6E2	BZW2_HUMAN	Homo sapiens basic leucine zipper and W2 domains 2 (BZW2), transcript variant 2, mRNA.	25					RNA metabolic process|cell differentiation|nervous system development		protein binding	p.F25F(2)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AAGAGAAATTCGAACCCACAG	0.333000														102			37		0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29735010	29735010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:29735010G>A	uc003afj.3	-	15	2319	c.2132C>T	c.(2131-2133)aCc>aTc	p.T711I	AP1B1_uc003afl.3_Missense_Mutation_p.T704I|AP1B1_uc003afi.3_Missense_Mutation_p.T704I|AP1B1_uc011ako.2_Missense_Mutation_p.T264I	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	711	Pro-rich (stalk region).				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCCTGACAGGGTGCCCACGCC	0.557000														145			64		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170549	207170549	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:207170549G>A	uc002vbp.2	+	4	1547	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	433							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTTTCCAAGGAAGTACGTAC	0.353000														66			29		0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26514727	26514727	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26514727G>A	uc001bln.4	+	16	1536	c.1478G>A	c.(1477-1479)tGg>tAg	p.W493*	CNKSR1_uc001blm.4_Nonsense_Mutation_p.W486*|CNKSR1_uc009vsd.3_Nonsense_Mutation_p.W228*|CNKSR1_uc009vse.3_Nonsense_Mutation_p.W228*|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.	493	PH.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	p.W486*(1)		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)		CTCCATAGGTGGGTGCGTCAT	0.572000														34			24		0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1421334	1421334	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:1421334G>A	uc009xhq.3	-	1	448	c.122C>T	c.(121-123)aCc>aTc	p.T41I		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	41					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)		AGCGAGGAAGGTTGACAATAT	0.433000														49			20		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2138110	2138110	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2138110C>T	uc002con.3	+	39	5236	c.5130C>T	c.(5128-5130)ttC>ttT	p.F1710F	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.F1687F|TSC2_uc002coo.3_Silent_p.F1643F|TSC2_uc010uvv.2_Silent_p.F1607F|TSC2_uc010uvw.2_Silent_p.F1595F|TSC2_uc002cop.3_Silent_p.F1466F|TSC2_uc002coq.3_Silent_p.F485F	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1710	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ACCTGCCCTTCGTGGCCCGCC	0.652000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					96			18		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57406576	57406576	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57406576C>T	uc001cyp.3	-	8	1411	c.1344G>A	c.(1342-1344)ctG>ctA	p.L448L	C8B_uc010oon.2_Silent_p.L386L|C8B_uc010ooo.2_Silent_p.L396L	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	448	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACTCCTGCATCAGGTCCGCCG	0.572000														71			22		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959797	157959797	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:157959797G>A	uc003wno.3	-	5	857	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	PTPRN2_uc003wnp.3_Missense_Mutation_p.L229F|PTPRN2_uc003wnq.3_Missense_Mutation_p.L246F|PTPRN2_uc003wnr.3_Missense_Mutation_p.L208F|PTPRN2_uc011kwa.2_Missense_Mutation_p.L269F	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	246						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TAGGCACTGAGGGCCGCCATC	0.667000														29			5		0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169533045	169533045	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:169533045G>A	uc003mai.4	+	0	129	c.84G>A	c.(82-84)atG>atA	p.M28I	FOXI1_uc003maj.4_Missense_Mutation_p.M28I	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	28	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA 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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCCGAGATGAACCTCTACT	0.697000									Pendred syndrome					45			16		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105167206	105167206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:105167206G>A	uc004emd.3	+	17	3010	c.2707G>A	c.(2707-2709)Gat>Aat	p.D903N	NRK_uc010npc.1_Missense_Mutation_p.D571N	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	903							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTTCCGGAATGATTGGTTAAC	0.428000										HNSCC(51;0.14)				24			24		0	0	1	0	0
WAS	7454	broad.mit.edu	37	X	48542353	48542353	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:48542353G>A	uc004dkm.4	+	0	168	c.111G>A	c.(109-111)gaG>gaA	p.E37E		NM_000377	NP_000368	P42768	WASP_HUMAN	Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.	37					T cell receptor signaling pathway|blood coagulation|defense response|epidermis development|immune response	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	p.F36Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				GACTCTTTGAGATGCTTGGAC	0.622000			"""Mis, N, F, S"""			lymphoma								26			38		0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43299342	43299342	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43299342G>A	uc001zqq.3	-	29	3416	c.3350C>T	c.(3349-3351)tCg>tTg	p.S1117L		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1117					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GACACAGGCCGATAATACCAT	0.423000														120			40		0	0	1	0	0
CMTM5	116173	broad.mit.edu	37	14	23846556	23846557	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23846556_23846557CC>TT	uc010akm.3	+	0	540_541	c.96_97CC>TT	c.(94-99)tcccac>tcTTac	p.H33Y	CMTM5_uc010akn.3_Missense_Mutation_p.H33Y|CMTM5_uc001wju.3_Missense_Mutation_p.H33Y|CMTM5_uc010ako.3_Non-coding_Transcript|CMTM5_uc001wjs.3_Missense_Mutation_p.H33Y|CMTM5_uc001wjt.3_Missense_Mutation_p.H33Y	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 5 (CMTM5), transcript variant 1, mRNA.	33	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		TCCTCACCTCCCACAAGGGCAT	0.649000														67			17		0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62855787	62855787	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62855787G>A	uc002jey.2	-	10	5093	c.4477C>T	c.(4477-4479)Ctc>Ttc	p.L1493F	LRRC37A3_uc010wqg.1_Missense_Mutation_p.L611F|LRRC37A3_uc002jex.1_Missense_Mutation_p.L470F|LRRC37A3_uc010wqf.1_Missense_Mutation_p.L531F|LRRC37A3_uc010dek.1_Missense_Mutation_p.L499F|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1493						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGAGCAATGAGCCTTCTCACA	0.517000														366			103		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060798	111060798	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111060798G>A	uc001dzt.1	-	0	1000	c.612C>T	c.(610-612)ctC>ctT	p.L204L		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	204						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		ACTCAAAGAGGAGCCAGAACT	0.557000														56			20		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141894	29141894	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29141894C>T	uc011dlm.2	+	0	584	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H160D(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GCACTTCATTCCTCCTTTACT	0.463000														203			92		0	0	1	0	0
NDUFS3	4722	broad.mit.edu	37	11	47605951	47605951	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:47605951C>T	uc001nga.2	+	6	795	c.713C>T	c.(712-714)cCc>cTc	p.P238L	NDUFS3_uc001nft.3_Missense_Mutation_p.P217L|FAM180B_uc001ngb.2_5'Flank	NM_004551	NP_004542	O75489	NDUS3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) (NDUFS3), nuclear gene encoding mitochondrial protein, mRNA.	238					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|electron carrier activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	CTGAACAGCCCCTGGGAGGCT	0.557000														113			47		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574438	28574438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:28574438C>T	uc003xgz.1	+	2	1455	c.862C>T	c.(862-864)Ctc>Ttc	p.L288F		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	288						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		ACAGAACCTTCTCTATAACGT	0.522000														43			8		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179414114	179414114	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179414114G>A	uc001gmo.3	+	15	1960	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	AXDND1_uc001gmn.2_Missense_Mutation_p.E313K|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Missense_Mutation_p.E483K	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	525										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GATCCTGAATGAGAAAAAAGA	0.383000														81			27		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671462	39671462	+	Silent	SNP	G	A	A	rs145343844		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:39671462G>A	uc021wjc.1	+	0	279	c.279G>A	c.(277-279)ggG>ggA	p.G93G	KCNJ15_uc002ywv.3_Silent_p.G93G|KCNJ15_uc002yww.3_Silent_p.G93G|KCNJ15_uc002ywx.3_Silent_p.G93G	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	93					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TTATTCATGGGGACTTAGAAC	0.478000														106			49		0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349316	36349316	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36349316C>T	uc002ocb.4	+	2	430	c.218C>T	c.(217-219)tCc>tTc	p.S73F	KIRREL2_uc002obz.4_Missense_Mutation_p.S73F|KIRREL2_uc002oca.4_Missense_Mutation_p.S23F|KIRREL2_uc002ocd.4_Missense_Mutation_p.S70F	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	73	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGGTGGTCCCGGTACTGG	0.557000														56			25		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188904	32188904	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32188904G>A	uc003obb.3	-	3	789	c.650C>T	c.(649-651)tCc>tTc	p.S217F	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.S217F	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	217	EGF-like 5; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCACTGGAAGGAGCCCAGGGT	0.657000														31			22		0	0	1	0	0
B3GALT4	8705	broad.mit.edu	37	6	33246057	33246057	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33246057C>T	uc003odr.3	+	0	1141	c.861C>T	c.(859-861)ctC>ctT	p.L287L		NM_003782	NP_003773	O96024	B3GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 (B3GALT4), mRNA.	287					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|ganglioside galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CACCCCTTCTCCCATTAGAGG	0.627000														57			25		0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27321123	27321123	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:27321123G>A	uc010lur.3	-	5	1446	c.837C>T	c.(835-837)atC>atT	p.I279I	CHRNA2_uc011lal.2_Silent_p.I264I|CHRNA2_uc010lus.3_Silent_p.I81I	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	279			I -> N (in ENFL4; markedly increases receptor sensitivity to acetylcholine).			cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	TGAGGCAGGAGATGAGCAGGC	0.607000														44			16		0	0	1	0	0
KCND1	3750	broad.mit.edu	37	X	48826306	48826306	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:48826306G>A	uc004dlx.1	-	0	1946	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	125						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						ACTAGCTCGGGAACCAGGCCG	0.622000														8			12		0	0	1	0	0
CDK8	1024	broad.mit.edu	37	13	26974631	26974631	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:26974631C>T	uc001uqr.1	+	9	998	c.975C>T	c.(973-975)acC>acT	p.T325T	CDK8_uc001uqs.1_Silent_p.T325T|CDK8_uc001uqt.1_Silent_p.T152T	NM_001260	NP_001251	P49336	CDK8_HUMAN	Homo sapiens cyclin-dependent kinase 8 (CDK8), mRNA.	325	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AGCGAATTACCTCAGAACAGG	0.423000														204			17		0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33695869	33695869	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33695869C>T	uc010jvf.2	-	3	944	c.408G>A	c.(406-408)aaG>aaA	p.K136K	IP6K3_uc003ofb.2_Silent_p.K136K	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	136					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						CTCACCTCTCCTTGGGTGAGC	0.652000														27			11		0	0	1	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39388084	39388084	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:39388084C>T	uc003awo.1	+	6	1118	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	APOBEC3B_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.P330L|APOBEC3B_uc003awq.1_Non-coding_Transcript	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B (APOBEC3B), mRNA.	355					negative regulation of transposition		RNA binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CAGGGATGTCCCTTCCAGCCC	0.617000														41			17		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997368	115997368	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:115997368C>T	uc003ibu.3	-	1	1504	c.825G>A	c.(823-825)ttG>ttA	p.L275L	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	275	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GCCAAAAGTTCAAGTTGTTGC	0.453000														148			56		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3256994	3256994	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:3256994G>A	uc022aqr.1	-	15	2714	c.2324C>T	c.(2323-2325)cCa>cTa	p.P775L	CSMD1_uc011kwj.2_Missense_Mutation_p.P168L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	776	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATAATATCCTGGCCATCCAGG	0.388000														52			19		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187685	57187685	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:57187685G>A	uc010kzo.3	-	4	1708	c.1437C>T	c.(1435-1437)acC>acT	p.T479T		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T479N(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTTGCATAAGGGTTGAGGAGC	0.403000														101			11		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105174832	105174832	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105174832C>T	uc001kwy.1	+	11	1529	c.1442C>T	c.(1441-1443)cCt>cTt	p.P481L		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	481	S1 motif 5.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGCCTGGTACCTCCCATGCAC	0.537000														44			22		0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120005392	120005392	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:120005392G>A	uc002tlp.3	+	3	787	c.630G>A	c.(628-630)ccG>ccA	p.P210P	STEAP3_uc002tlq.3_Silent_p.P220P|STEAP3_uc002tlr.3_Silent_p.P210P|STEAP3_uc010fle.3_Silent_p.P210P	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	210					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	p.P210P(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCCTCCTCCCGGCCTGGAAGG	0.657000														53			16		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14022123	14022123	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:14022123C>T	uc003wwq.3	-	4	1173	c.513G>A	c.(511-513)gaG>gaA	p.E171E	SGCZ_uc010lss.3_Silent_p.E124E	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	158					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CAATGGTAATCTCATCTTCAT	0.423000														74			12		0	0	1	0	0
SSBP2	23635	broad.mit.edu	37	5	80769541	80769541	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:80769541C>T	uc003khp.3	-	7	759	c.548G>A	c.(547-549)gGa>gAa	p.G183E	SSBP2_uc003khn.3_Missense_Mutation_p.G57E|SSBP2_uc011ctr.2_Missense_Mutation_p.G153E|SSBP2_uc003kho.3_Missense_Mutation_p.G183E|SSBP2_uc011ctp.2_Missense_Mutation_p.G163E|SSBP2_uc011ctq.2_Missense_Mutation_p.G153E	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	183	Gly-rich.|Pro-rich.			MTPPRGMVPLGP -> NDSSKRNGCLRTTVLTPGLSL (in Ref. 2; AAD27781).	regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		GGGCACCATTCCTCTTGGAGG	0.403000														45			19		0	0	1	0	0
CXCL5	6374	broad.mit.edu	37	4	74863807	74863807	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:74863807G>A	uc003hhk.3	-	2	366	c.248C>T	c.(247-249)tCc>tTc	p.S83F		NM_002994	NP_002985	P42830	CXCL5_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 5 (CXCL5), mRNA.	83					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GTTCTTCAGGGAGGCTCTGAA	0.453000														93			29		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815653	158815653	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158815653G>A	uc001fsz.1	+	4	1047	c.847G>A	c.(847-849)Gca>Aca	p.A283T		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	283	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AATAAAGGAAGCATCATCTGT	0.343000														65			30		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123848369	123848369	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123848369C>T	uc001pzm.1	-	0	30	c.30G>A	c.(28-30)atG>atA	p.M10I		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTGTCATGGTCATCTTCTCAC	0.468000														81			44		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241987827	241987827	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241987827G>A	uc002wah.1	+	8	1369	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	457	EGF-like 5.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGAGTGCCCCGAAGGCTTCAT	0.667000														20			4		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723158	58723158	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:58723158G>A	uc001nnh.2	+	6	710	c.660G>A	c.(658-660)ggG>ggA	p.G220G	GLYATL1_uc001nnf.3_Silent_p.G189G|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Silent_p.G189G|GLYATL1_uc001nnj.2_Silent_p.G189G	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	189						mitochondrion	glycine N-acyltransferase activity	p.R219Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GGAAGCGAGGGAAGAATGAGA	0.498000														72			16		0	0	1	0	0
SLC18A1	6570	broad.mit.edu	37	8	20035989	20035989	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:20035989G>A	uc011kyq.2	-	4	975	c.504C>T	c.(502-504)atC>atT	p.I168I	SLC18A1_uc003wzm.3_Silent_p.I168I|SLC18A1_uc011kyr.2_Silent_p.I168I|SLC18A1_uc003wzn.3_Silent_p.I168I|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	168					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CAAACATGGGGATATGATATC	0.348000														20			6		0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42122113	42122113	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:42122113C>T	uc003gwn.3	-	4	1925	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	BEND4_uc003gwm.3_Intron|BEND4_uc011byy.1_Missense_Mutation_p.E449K	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	449	BEN.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GGGCGTCTTTCGGGACCTGTC	0.498000														22			11		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50367257	50367257	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:50367257G>A	uc003tow.4	+	2	219	c.64G>A	c.(64-66)Gat>Aat	p.D22N	IKZF1_uc022acq.1_Missense_Mutation_p.D22N|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Missense_Mutation_p.D22N|IKZF1_uc022acu.1_Missense_Mutation_p.D22N|IKZF1_uc003tox.4_Missense_Mutation_p.D22N|IKZF1_uc022acv.1_Missense_Mutation_p.D22N|IKZF1_uc022acw.1_Missense_Mutation_p.D22N|IKZF1_uc022acx.1_Missense_Mutation_p.D22N|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Missense_Mutation_p.D22N|IKZF1_uc003toy.4_Missense_Mutation_p.D22N|IKZF1_uc003toz.4_5'UTR|IKZF1_uc010kyx.3_5'UTR|IKZF1_uc003tov.1_Missense_Mutation_p.D22N	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	22					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(33)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCCTGTAAGCGATACTCCAGA	0.587000			"""D,T"""	BCL6	"""ALL, DLBCL"""									18			7		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408205	29408205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29408205G>A	uc011dlp.2	+	0	490	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	138			R -> W (in dbSNP:rs17177646).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGAGCCACCGGGTGTGTCTA	0.637000														51			23		0	0	1	0	0
PF4	5196	broad.mit.edu	37	4	74846987	74846987	+	Silent	SNP	C	T	T	rs4694		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:74846987C>T	uc003hhi.2	-	2	285	c.240G>A	c.(238-240)agG>agA	p.R80R		NM_002619	NP_002610	P02776	PLF4_HUMAN	Homo sapiens platelet factor 4 (PF4), mRNA.	80					cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of MHC class II biosynthetic process|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	AGCAAATTTTCCTTCCATTCT	0.458000														55			20		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66905896	66905896	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:66905896G>A	uc004dwu.2	+	2	2928	c.1813G>A	c.(1813-1815)Gat>Aat	p.D605N	AR_uc011mpd.2_Missense_Mutation_p.D605N|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Missense_Mutation_p.D605N|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_Missense_Mutation_p.D605N|AR_uc004dwv.2_Missense_Mutation_p.D73N	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	604	Interaction with HIPK3 (By similarity).				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TTGCACTATTGATAAATTCCG	0.413000									Androgen Insensitivity Syndrome					16			29		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167659342	167659342	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167659342G>A	uc001gem.3	+	3	442	c.255G>A	c.(253-255)ctG>ctA	p.L85L	RCSD1_uc010pli.2_Silent_p.L55L	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	85								p.L85L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GCTCGCCTCTGATTGAGAAGC	0.423000														81			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179539769	179539769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179539769C>T	uc021vsy.1	-	144	30931	c.30706G>A	c.(30706-30708)Gaa>Aaa	p.E10236K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6897K|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11163	Glu-rich.|Pro-rich.						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)			TATCTACCTTCAACTGGTAGA	0.333000														27			12		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39613254	39613254	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39613254G>A	uc003xnj.3	-	15	1865	c.1790C>T	c.(1789-1791)tCa>tTa	p.S597L	ADAM2_uc003xnk.3_Missense_Mutation_p.S578L|ADAM2_uc011lck.2_Intron|ADAM2_uc003xnl.3_Missense_Mutation_p.S441L	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	597	Cys-rich.				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)		TACCTTATTTGAACCACAAGA	0.398000														28			12		0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44797655	44797655	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44797655C>T	uc003tlr.3	+	5	884	c.761C>T	c.(760-762)cCt>cTt	p.P254L	ZMIZ2_uc003tlq.3_Missense_Mutation_p.P222L|ZMIZ2_uc003tls.3_Missense_Mutation_p.P254L|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	254	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TATCCTGGGCCTCCCCAGGCC	0.632000														95			36		0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219679167	219679167	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219679167C>T	uc002viz.4	+	6	1683	c.1249C>T	c.(1249-1251)Ctc>Ttc	p.L417F		NM_000784	NP_000775	Q02318	CP27A_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily A, polypeptide 1 (CYP27A1), nuclear gene encoding mitochondrial protein, mRNA.	417					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TGATGGCTTCCTCTTCCCCAA	0.522000														94			40		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18524140	18524140	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:18524140C>T	uc001rdt.3	+	11	1768	c.1652C>T	c.(1651-1653)tCa>tTa	p.S551L	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.S592L|PIK3C2G_uc010sic.2_Missense_Mutation_p.S370L	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	551					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GAAATAAAGTCACTTCCAAGG	0.368000														18			8		0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	101031041	101031041	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:101031041G>A	uc002bwa.3	-	5	873	c.302C>T	c.(301-303)tCc>tTc	p.S101F	CERS3_uc002bvz.3_Missense_Mutation_p.S90F|CERS3_uc002bwb.3_Missense_Mutation_p.S90F	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	90						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TTGCCTTGTGGAATGTTTGAA	0.338000														65			13		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20582410	20582410	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:20582410C>T	uc002wrz.3	-	15	2262	c.2119G>A	c.(2119-2121)Gaa>Aaa	p.E707K	RALGAPA2_uc002wry.3_Missense_Mutation_p.E322K|RALGAPA2_uc010zsg.2_Missense_Mutation_p.E108K	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	707					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CGCATCGGTTCGGTCACATCT	0.478000														47			17		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39149936	39149936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:39149936G>A	uc004abi.3	-	9	1755	c.1516C>T	c.(1516-1518)Ccc>Tcc	p.P506S	CNTNAP3_uc004abj.3_Missense_Mutation_p.P506S|CNTNAP3_uc011lqr.2_Intron|CNTNAP3_uc004abk.1_Missense_Mutation_p.P506S|CNTNAP3_uc011lqs.1_Intron	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	506	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCTCCCAGGGGGCTTTTACAT	0.493000														48			15		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552609	1552609	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:1552609C>T	uc010gai.3	-	2	607	c.508G>A	c.(508-510)Gag>Aag	p.E170K	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	170	Ig-like C1-type 1.				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						CCATGGGACTCGCAGGTGAAG	0.567000														112			34		0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63085637	63085637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:63085637C>T	uc002sby.3	+	7	1213	c.731C>T	c.(730-732)tCc>tTc	p.S244F	EHBP1_uc010fcp.3_Intron|EHBP1_uc002sbx.2_Intron|EHBP1_uc002sbz.3_Intron|EHBP1_uc002scb.3_Intron	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	244						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCAGCCAGTTCCTCTGAAGGT	0.408000														56			12		0	0	1	0	0
C17orf57	124989	broad.mit.edu	37	17	45412651	45412651	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:45412651C>T	uc002iln.3	+	4	551	c.120C>T	c.(118-120)atC>atT	p.I40I	ITGB3_uc010wkr.1_Non-coding_Transcript|C17orf57_uc002ilm.3_Silent_p.I40I|C17orf57_uc002ill.1_5'UTR|C17orf57_uc010daz.1_Silent_p.I40I	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	40							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						AGAAATACATCAAGTTTTCTA	0.318000														67			45		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132445295	132445295	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:132445295C>T	uc001ujn.3	+	1	283	c.131C>T	c.(130-132)cCc>cTc	p.P44L	EP400_uc021rgq.1_Missense_Mutation_p.P44L|EP400_uc001ujm.3_Missense_Mutation_p.P44L|EP400_uc001ujj.2_Missense_Mutation_p.P44L|EP400_uc001ujk.3_Missense_Mutation_p.P44L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	44					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCTTCGCTCCCTCAGCAAGC	0.652000														30			24		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345226	33345226	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33345226G>A	uc002xav.3	-	7	3896	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F	NCOA6_uc002xaw.3_Missense_Mutation_p.S442F|NCOA6_uc021wcd.1_Missense_Mutation_p.S442F|NCOA6_uc021wce.1_Missense_Mutation_p.S442F|NCOA6_uc021wcf.1_Missense_Mutation_p.S442F|NCOA6_uc010gew.1_Missense_Mutation_p.S399F	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	442	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CGTTGGGGAGGATGCAGGGGA	0.602000														79			31		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80045076	80045076	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:80045076G>A	uc002kdu.3	-	20	3394	c.3277C>T	c.(3277-3279)Cac>Tac	p.H1093Y	FASN_uc002kdw.1_Missense_Mutation_p.H309Y	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1093					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCGGAGATGTGGACGCCTCCG	0.667000														17			4		0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973335	29973335	+	Nonsense_Mutation	SNP	C	T	T	rs144365564	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:29973335C>T	uc004dby.2	+	10	1997	c.1489C>T	c.(1489-1491)Cga>Tga	p.R497*		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	497	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AACCAGACTTCGAAATATGCT	0.443000														43			38		0	0	1	0	0
WDR45L	56270	broad.mit.edu	37	17	80579640	80579641	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:80579640_80579641GG>AA	uc002kfq.3	-	5	657_658	c.462_463CC>TT	c.(460-465)tccctc>tcTTtc	p.L155F	WDR45L_uc002kfr.3_Non-coding_Transcript	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	Homo sapiens WDR45-like (WDR45L), mRNA.	155					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	12	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)			AAGGCCAGGAGGGAGTTGTTAC	0.569000														35			11		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196646781	196646781	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:196646781G>A	uc001gtj.4	+	4	843	c.603G>A	c.(601-603)gaG>gaA	p.E201E	CFH_uc001gti.4_Silent_p.E201E|CFH_uc009wyw.3_Silent_p.E201E|CFH_uc009wyx.3_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	201	Sushi 3.				complement activation, alternative pathway	extracellular space		p.E201K(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGAGTAAAGAGAAACCAAAGT	0.328000														144			30		0	0	1	0	0
MYEOV	26579	broad.mit.edu	37	11	69063588	69063588	+	Missense_Mutation	SNP	C	T	T	rs138762742	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:69063588C>T	uc001oov.3	+	2	1121	c.671C>T	c.(670-672)tCg>tTg	p.S224L	MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Missense_Mutation_p.S224L|MYEOV_uc001oow.3_Missense_Mutation_p.S166L	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA.	224										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		CTGGCAGAATCGAGCTGCCCT	0.637000														47			31		0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31475943	31475943	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31475943C>T	uc010vfn.2	+	5	2008	c.1884C>T	c.(1882-1884)tcC>tcT	p.S628S	ARMC5_uc010vfo.2_Silent_p.S565S|ARMC5_uc002ecc.3_Silent_p.S533S|ARMC5_uc002eca.4_Silent_p.S533S|ARMC5_uc002ecb.2_Silent_p.S533S|ARMC5_uc010vfp.2_Silent_p.S341S	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	533							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGCGCTTTTCCCAGGCCCCTG	0.731000														11			8		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139151280	139151280	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:139151280C>T	uc003yuy.3	-	17	4021	c.3850G>A	c.(3850-3852)Gat>Aat	p.D1284N	FAM135B_uc003yux.3_Missense_Mutation_p.D1185N|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1284										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)			TCAGCATTATCCCTGAAGGTC	0.423000										HNSCC(54;0.14)				72			27		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233270846	233270846	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233270846G>A	uc001hvl.2	-	20	3985	c.3750C>T	c.(3748-3750)ttC>ttT	p.F1250F	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.	1250						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)				AGATGACAGTGAAGCTCAAGT	0.393000														58			32		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20491956	20491956	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20491956G>A	uc010bwe.3	+	11	1582	c.1343G>A	c.(1342-1344)gGa>gAa	p.G448E	ACSM2A_uc010vax.1_Missense_Mutation_p.G369E|ACSM2A_uc002dhf.4_Missense_Mutation_p.G448E|ACSM2A_uc002dhg.4_Missense_Mutation_p.G448E|ACSM2A_uc010vay.2_Missense_Mutation_p.G369E|ACSM2A_uc002dhh.4_Missense_Mutation_p.G78E	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	448					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.R447R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGAGACCGGGGAATCAAAGAT	0.488000														88			10		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226608	23226608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23226608G>A	uc002dlm.1	+	12	1907	c.1768G>A	c.(1768-1770)Ggc>Agc	p.G590S		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	590					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TAGCCCACAGGGCCAGGACAA	0.597000														105			35		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102071146	102071146	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:102071146A>T	uc001tii.3	+	25	3202	c.3062A>T	c.(3061-3063)aAa>aTa	p.K1021I	MYBPC1_uc001tig.3_Missense_Mutation_p.K1028I|MYBPC1_uc010svr.2_Missense_Mutation_p.K1003I|MYBPC1_uc010svs.2_Missense_Mutation_p.K1021I|MYBPC1_uc001tij.3_Missense_Mutation_p.K1003I|MYBPC1_uc010svt.2_Missense_Mutation_p.K991I|MYBPC1_uc010svu.2_Missense_Mutation_p.K984I|MYBPC1_uc001tik.3_Missense_Mutation_p.K977I|MYBPC1_uc001tih.3_Missense_Mutation_p.K1028I|MYBPC1_uc010svq.2_Missense_Mutation_p.K990I|MYBPC1_uc001til.3_Missense_Mutation_p.K46I	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	1021	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACCATGACTAAAGAGAGTGCA	0.458000														30			14		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7287995	7287996	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7287995_7287996GG>AA	uc001qss.3	+	2	1030_1031	c.492_493GG>AA	c.(490-495)gcggct>gcAAct	p.A165T	CLSTN3_uc001qsr.3_Missense_Mutation_p.A153T	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	153	Cadherin 2.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGTATCGTGCGGCTGTGACAGA	0.564000														56			25		0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232393203	232393203	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:232393203G>A	uc002vry.4	-	1	639	c.529C>T	c.(529-531)Cat>Tat	p.H177Y		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	177					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGGCGCACATGGGCCCGCGTC	0.682000														45			21		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440305	40440305	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:40440305C>T	uc003gvc.2	-	3	1316	c.606G>A	c.(604-606)gaG>gaA	p.E202E	RBM47_uc003gvd.2_Silent_p.E202E|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.E164E|RBM47_uc003gvg.1_Silent_p.E202E	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	202	RRM 2.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGCGGTGGCTCTCGTACTCCA	0.662000														64			17		0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19253875	19253875	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:19253875G>A	uc001mpm.3	-	6	1494	c.972C>T	c.(970-972)agC>agT	p.S324S	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Silent_p.S324S	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	324					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TAAGATCCAGGCTACTCAGAA	0.363000														131			56		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48753410	48753410	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48753410C>T	uc002isl.3	+	21	3106	c.3026C>T	c.(3025-3027)tCc>tTc	p.S1009F	ABCC3_uc002isn.3_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1009	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AACAACACTTCCCTGAGGCTG	0.547000														34			21		0	0	1	0	0
ANP32C	23520	broad.mit.edu	37	4	165118669	165118669	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:165118669C>T	uc011cjk.2	-	0	195	c.195G>A	c.(193-195)ttG>ttA	p.L65L	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	65										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		CAAGCTTTCTCAACTTTAACT	0.413000														183			20		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176708876	176708876	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176708876C>T	uc001gkz.3	+	12	5077	c.3913C>T	c.(3913-3915)Cgt>Tgt	p.R1305C	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1305					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GACCGATGTCCGTGGAAGCAA	0.493000														59			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106631450	106631450	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106631450C>T	uc021ser.1	-	1557		c.30529G>A								Parts of antibodies, mostly variable regions.																		AGAAGAGGATCCCCCAGGTAC	0.552000														51			20		0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63668267	63668267	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63668267C>T	uc001nxw.3	+	9	1483	c.904C>T	c.(904-906)Cga>Tga	p.R302*	MARK2_uc001nxv.4_Nonsense_Mutation_p.R302*|MARK2_uc001nxx.3_Nonsense_Mutation_p.R302*|MARK2_uc001nxy.3_Nonsense_Mutation_p.R302*|MARK2_uc001nxz.4_Nonsense_Mutation_p.R269*|MARK2_uc009yoy.3_Nonsense_Mutation_p.R269*	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	302	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S301F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CATGAAAGATCGATGGATGAA	0.562000														275			24		0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74658705	74658705	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:74658705G>A	uc001jte.1	+	1	563	c.345G>A	c.(343-345)tgG>tgA	p.W115*	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	115						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GCTGTCTCTGGAACACCACGG	0.587000														51			19		0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450542	158450542	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158450542G>A	uc010pik.2	+	0	875	c.875G>A	c.(874-876)aGg>aAg	p.R292K	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AACAAAGACAGGCTGGTGACG	0.458000														61			19		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151891543	151891543	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:151891543C>T	uc003wla.3	-	28	4708	c.4489G>A	c.(4489-4491)Gac>Aac	p.D1497N	MLL3_uc003wkz.3_Missense_Mutation_p.D558N	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1497					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACCATTTTGTCTAGTTCAGGA	0.373000			N		medulloblastoma									117			13		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36330466	36330466	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36330466G>A	uc002oby.3	-	20	3015	c.2859C>T	c.(2857-2859)acC>acT	p.T953T	NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	953	Fibronectin type-III.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGGAGTGTGGGGTCAGACTCA	0.557000														98			21		0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60184221	60184221	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60184221G>A	uc001npj.3	+	4	2345	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	MS4A14_uc001npi.3_Missense_Mutation_p.E482K|MS4A14_uc001npn.3_Missense_Mutation_p.E332K|MS4A14_uc001npk.3_Missense_Mutation_p.E577K|MS4A14_uc001npl.3_Missense_Mutation_p.E332K|MS4A14_uc001npm.3_Missense_Mutation_p.E332K	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	594	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GACTGATAAGGAGCAAAACTC	0.463000														33			14		0	0	1	0	0
CNPPD1	27013	broad.mit.edu	37	2	220037701	220037701	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220037701G>A	uc002vju.4	-	7	992	c.840C>T	c.(838-840)ccC>ccT	p.P280P	NHEJ1_uc002vjq.4_5'Flank|SLC23A3_uc010zkr.2_5'Flank|SLC23A3_uc010zks.2_5'Flank|SLC23A3_uc010fwb.3_5'Flank|CNPPD1_uc002vjv.3_Silent_p.P280P	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA.	280					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						AAGGTATGCAGGGCTCCAGGA	0.612000														136			11		0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21967278	21967278	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21967278G>A	uc001wbc.3	-	9	1614	c.1522C>T	c.(1522-1524)Cgt>Tgt	p.R508C	TOX4_uc001waz.3_3'UTR|TOX4_uc010tlu.2_3'UTR|TOX4_uc010tlv.2_3'UTR|METTL3_uc001wbb.3_Missense_Mutation_p.R353C	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	Homo sapiens methyltransferase like 3 (METTL3), mRNA.	508					gene expression	nuclear speck	RNA binding|mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CTGGTGGAACGAACCTAGGAA	0.373000														39			24		0	0	1	0	0
PCDHB18	54660	broad.mit.edu	37	5	140616020	140616020	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140616020G>A	uc003ljc.1	+	0	2083	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCTGCTGAGCGAGCGCGACGC	0.711000														89			35		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796941	69796941	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69796941C>T	uc003hef.2	-	3	1047	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	339						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGGTTTTTTTCCTTTGTACCT	0.358000														51			24		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111398053	111398054	+	Missense_Mutation	DNP	CG	TA	TA	rs146450390		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:111398053_111398054CG>TA	uc003iab.4	+	0	825_826	c.483_484CG>TA	c.(481-486)ttcgag>ttTAag	p.E162K		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	162					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.F161F(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GGAGGTGTTTCGAGTACAAAAA	0.629000														143			54		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52945956	52945956	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:52945956C>T	uc003gzl.3	+	8	1504	c.1226C>T	c.(1225-1227)cCt>cTt	p.P409L	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.P377L|SPATA18_uc003gzk.1_Missense_Mutation_p.P409L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	409					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCATTCCCTCCTGTCGTTGAC	0.438000														218			90		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129039953	129039953	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:129039953G>A	uc003kvb.1	+	20	3163	c.3163G>A	c.(3163-3165)Ggc>Agc	p.G1055S	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.	1055	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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)		GTGTGGCAAAGGCATACGTCA	0.423000														128			53		0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42162048	42162048	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42162048C>T	uc002xkn.1	+	5	641	c.510C>T	c.(508-510)acC>acT	p.T170T	L3MBTL1_uc010zwh.2_Silent_p.T479T|L3MBTL1_uc002xkm.3_Silent_p.T411T|L3MBTL1_uc010ggl.3_Silent_p.T411T|L3MBTL1_uc002xkl.3_Silent_p.T411T|L3MBTL1_uc002xko.3_Silent_p.T63T	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	411					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			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						AGCCCCTCACCCCTCCACAAG	0.592000														62			14		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91809811	91809811	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:91809811G>A	uc002bqv.3	+	8	1900	c.1009_splice	c.e8-1	p.V337_splice	SV2B_uc002bqt.3_Splice_Site_p.V337_splice|SV2B_uc002bqu.4_Splice_Site|SV2B_uc010uqv.2_Splice_Site_p.V186_splice	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	337					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTACTTTTCAGGTTTCCAACA	0.373000														69			18		0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73535261	73535261	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:73535261C>T	uc003uaa.2	+	14	1877	c.1663C>T	c.(1663-1665)Cgc>Tgc	p.R555C	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Missense_Mutation_p.R521C	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	555	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	p.R555H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CTACCTGCCCCGCACCATGGA	0.647000														130			74		0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230687	147230687	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:147230687G>A	uc021ovl.1	-	0	660	c.660C>T	c.(658-660)ctC>ctT	p.L220L	GJA5_uc001eps.1_Silent_p.L220L|GJA5_uc001ept.1_Silent_p.L220L	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	220					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CCAGGCTAAGGAGGAGGGACA	0.562000														24			19		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2717815	2717815	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2717815C>T	uc009zdu.1	+	27	3868	c.3555C>T	c.(3553-3555)gtC>gtT	p.V1185V	CACNA1C_uc001qkc.2_Silent_p.V1165V|CACNA1C_uc001qjz.2_Silent_p.V1165V|CACNA1C_uc001qkd.2_Silent_p.V1165V|CACNA1C_uc001qke.2_Silent_p.V1165V|CACNA1C_uc001qkf.2_Silent_p.V1165V|CACNA1C_uc009zdw.1_Silent_p.V1165V|CACNA1C_uc001qkg.2_Silent_p.V1165V|CACNA1C_uc001qkh.2_Silent_p.V1165V|CACNA1C_uc001qkl.2_Silent_p.V1185V|CACNA1C_uc001qkj.2_Silent_p.V1165V|CACNA1C_uc001qkk.2_Silent_p.V1165V|CACNA1C_uc001qkn.2_Silent_p.V1165V|CACNA1C_uc001qkm.2_Silent_p.V1165V|CACNA1C_uc001qko.2_Silent_p.V1185V|CACNA1C_uc001qkp.2_Silent_p.V1165V|CACNA1C_uc001qkq.2_Silent_p.V1165V|CACNA1C_uc001qku.2_Silent_p.V1165V|CACNA1C_uc001qkr.2_Silent_p.V1165V|CACNA1C_uc001qks.2_Silent_p.V1165V|CACNA1C_uc001qkt.2_Silent_p.V1165V|CACNA1C_uc009zdv.1_Silent_p.V1162V|CACNA1C_uc001qkb.2_Silent_p.V1165V|CACNA1C_uc001qka.1_Silent_p.V700V|CACNA1C_uc001qki.1_Silent_p.V901V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1185	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	tgggcttcgtcatcgtcaccT	0.532000														37			12		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887076	3887076	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:3887076C>T	uc003bpt.4	+	1	1512	c.751C>T	c.(751-753)Ctg>Ttg	p.L251L	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.L251L	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	251						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TGATAACAAACTGGTTAAAGT	0.403000														142			53		0	0	1	0	0
LOC644172	644172	broad.mit.edu	37	17	43679239	43679239	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:43679239G>A	uc010wjw.1	-	0	510	c.426C>T	c.(424-426)tcC>tcT	p.S142S						Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 pseudogene (LOC644172), non-coding RNA.																		GGCTGTTGGTGGAGGTGCCTC	0.647000														48			7		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181752865	181752865	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181752865C>T	uc009wxt.3	+	39	5610	c.5415C>T	c.(5413-5415)ttC>ttT	p.F1805F	CACNA1E_uc001gow.3_Silent_p.F1805F|CACNA1E_uc009wxs.3_Silent_p.F1786F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1805					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						CGGTCCACTTCACCTCCACAC	0.443000														50			15		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10315987	10315987	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10315987G>A	uc002gmm.2	-	12	1301	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	402	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TAGGGTAGCAGAGGGCTTTGA	0.502000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					142			96		0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170688895	170688895	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:170688895G>A	uc001ghf.3	+	1	317	c.270G>A	c.(268-270)aaG>aaA	p.K90K	PRRX1_uc001ghe.3_Silent_p.K90K	NM_022716	NP_073207	P54821	PRRX1_HUMAN	Homo sapiens paired related homeobox 1 (PRRX1), transcript variant pmx-1b, mRNA.	90						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAGAAAAAAAGAAGAGAAAGC	0.433000														27			6		0	0	1	0	0
DERL1	79139	broad.mit.edu	37	8	124034951	124034951	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:124034951T>A	uc003ypl.2	-	4	712	c.426A>T	c.(424-426)gtA>gtT	p.V142V	DERL1_uc003ypm.2_Silent_p.V142V|DERL1_uc011lif.1_Intron|DERL1_uc003ypn.2_Silent_p.V142V	NM_024295	NP_077271	Q9BUN8	DERL1_HUMAN	Homo sapiens Der1-like domain family, member 1 (DERL1), transcript variant 1, mRNA.	142					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ACCAAAATGATACAATCATGT	0.418000											OREG0018957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		156			28		0	0	1	0	0
KCNE1L	23630	broad.mit.edu	37	X	108867989	108867989	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:108867989G>A	uc004eoh.3	-	0	405	c.261C>T	c.(259-261)ctC>ctT	p.L87L		NM_012282	NP_036414	Q9UJ90	KCE1L_HUMAN	Homo sapiens KCNE1-like (KCNE1L), mRNA.	87					regulation of heart contraction	voltage-gated potassium channel complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						TGGCCTCGACGAGCTTACGGG	0.687000														20			4		0	0	1	0	0
FERMT2	10979	broad.mit.edu	37	14	53347812	53347812	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:53347812T>C	uc001xac.3	-	5	983	c.797A>G	c.(796-798)gAa>gGa	p.E266G	FERMT2_uc001xad.3_Missense_Mutation_p.E266G|FERMT2_uc001xae.3_Missense_Mutation_p.E266G|FERMT2_uc001xaf.3_Missense_Mutation_p.E266G	NM_001134999	NP_001128471	Q96AC1	FERM2_HUMAN	Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA.	266	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					GGCCTCATTTTCCTTCACATC	0.368000														62			18		0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186761062	186761062	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:186761062G>A	uc003frb.3	+	3	1204	c.571G>A	c.(571-573)Gga>Aga	p.G191R	ST6GAL1_uc003frc.3_Intron|ST6GAL1_uc003frd.3_Missense_Mutation_p.G191R	NM_173216	NP_775323	P15907	SIAT1_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.	191					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.A190A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GTCGTCAGCGGGATCTCTGAA	0.522000														141			26		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43552318	43552318	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43552318G>A	uc001zrd.2	-	2	376	c.368C>T	c.(367-369)tCc>tTc	p.S123F	TGM5_uc001zre.2_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	123					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.D122N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CCCCTGGAAGGAGTCGATGTG	0.627000														107			22		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8188819	8188819	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8188819C>T	uc002mjf.3	-	21	2822	c.2805G>A	c.(2803-2805)cgG>cgA	p.R935R		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	935	TB 5.		R -> L.			proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGACGTCCATCCGGTACTTGC	0.647000														33			13		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937598	21937598	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:21937598G>A	uc010tzj.1	-	0		c.3142C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		ATAATGGGAGGGGCAGTCTCT	0.498000														114			10		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142500312	142500312	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:142500312C>T	uc003ywi.2	-	4	683	c.602G>A	c.(601-603)tGg>tAg	p.W201*	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	201							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CACCACCCGCCACGAGTGCCT	0.652000														32			8		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57399026	57399026	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57399026C>T	uc001cyp.3	-	9	1601	c.1534G>A	c.(1534-1536)Gga>Aga	p.G512R	C8B_uc010oon.2_Missense_Mutation_p.G450R|C8B_uc010ooo.2_Missense_Mutation_p.G460R	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	512	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACAGGGACTCCATTTCCTTGG	0.547000														64			33		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533829	31533829	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31533829C>T	uc003aka.3	-	3	1062	c.933G>A	c.(931-933)ggG>ggA	p.G311G		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	311					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GATGTGGTGGCCCCTTCCGAA	0.652000														139			61		0	0	1	0	0
NDUFA9	4704	broad.mit.edu	37	12	4796131	4796131	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4796131C>T	uc001qnc.3	+	10	1020	c.991C>T	c.(991-993)Cac>Tac	p.H331Y	NDUFA9_uc010ses.2_Missense_Mutation_p.H112Y	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA.	331					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	GAAATTGCCTCACCTGCCTGG	0.502000														33			15		0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7661052	7661052	+	Silent	SNP	T	G	G	rs56030009		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7661052T>G	uc001mfj.4	+	14	1714	c.1326T>G	c.(1324-1326)ccT>ccG	p.P442P	PPFIBP2_uc010rbb.1_Silent_p.P365P|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Silent_p.P365P|PPFIBP2_uc010rbd.1_Silent_p.P284P|PPFIBP2_uc010rbe.2_Silent_p.P330P|PPFIBP2_uc001mfl.4_Silent_p.P299P|PPFIBP2_uc009yfj.1_Silent_p.P86P	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	442					DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding	p.P442S(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCAAATCTCCTCCCACCATCT	0.597000														136			40		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120690526	120690526	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:120690526C>T	uc001pxn.2	+	5	695	c.408C>T	c.(406-408)acC>acT	p.T136T	GRIK4_uc009zav.1_Silent_p.T136T|GRIK4_uc009zaw.1_Silent_p.T136T|GRIK4_uc009zax.1_Silent_p.T136T	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	136					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GATTCACAACCCTGAACCTCC	0.557000														279			104		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38616851	38616851	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38616851G>A	uc021wvo.1	-	18	3655	c.3603C>T	c.(3601-3603)atC>atT	p.I1201I	SCN5A_uc021wvk.1_Silent_p.I1200I|SCN5A_uc021wvl.1_Silent_p.I1147I|SCN5A_uc021wvm.1_Silent_p.I1201I|SCN5A_uc021wvn.1_Silent_p.I1200I|SCN5A_uc021wvp.1_Silent_p.I1201I|SCN5A_uc021wvq.1_Silent_p.I1200I|SCN5A_uc021wvr.1_Silent_p.I1201I|SCN5A_uc021wvs.1_Silent_p.I1201I|SCN5A_uc021wvt.1_Silent_p.I1200I|SCN5A_uc021wvu.1_Silent_p.I1147I|SCN5A_uc021wvv.1_Silent_p.I1201I|SCN5A_uc021wvj.1_Silent_p.I1013I|SCN5A_uc021wvi.1_Silent_p.I1067I|SCN5A_uc021wvw.1_Silent_p.I811I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1201					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGTGCTCCACGATGTGGTAGC	0.617000														16			9		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4433534	4433534	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4433534C>T	uc002mal.3	+	12	2771	c.2671C>T	c.(2671-2673)Cag>Tag	p.Q891*		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	891	Binds to p60.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACGACGGCCAGGTGAGGTG	0.552000								Chromatin Structure						33			14		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50610686	50610686	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:50610686G>A	uc001csb.2	+	1	335	c.67G>A	c.(67-69)Gga>Aga	p.G23R	ELAVL4_uc001cry.3_Missense_Mutation_p.G26R|ELAVL4_uc001crz.3_Missense_Mutation_p.G23R|ELAVL4_uc001csa.3_Missense_Mutation_p.G40R|ELAVL4_uc001csc.3_Missense_Mutation_p.G23R|ELAVL4_uc009vyu.3_Missense_Mutation_p.G28R|ELAVL4_uc010omz.2_Missense_Mutation_p.G28R	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	23					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TACAAGCAATGGACCCTCCAG	0.418000														54			7		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39454590	39454590	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:39454590C>T	uc001uwv.3	+	23	9485	c.9176C>T	c.(9175-9177)cCc>cTc	p.P3059L		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	3059					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGGAGCACACCCTCACTGGCA	0.537000														92			15		0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94849449	94849449	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94849449C>T	uc001ycy.4	-	3	680	c.126G>A	c.(124-126)caG>caA	p.Q42Q	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Silent_p.Q42Q|SERPINA1_uc010auy.3_Silent_p.Q42Q|SERPINA1_uc001ycz.4_Silent_p.Q42Q|SERPINA1_uc010auz.3_Silent_p.Q42Q|SERPINA1_uc010ava.3_Silent_p.Q42Q|SERPINA1_uc001ydb.4_Silent_p.Q42Q|SERPINA1_uc010avb.3_Silent_p.Q42Q|SERPINA1_uc001ydc.4_Silent_p.Q42Q|SERPINA1_uc010auw.3_Silent_p.Q42Q|SERPINA1_uc010aux.3_Silent_p.Q42Q|SERPINA1_uc001yda.1_Silent_p.Q42Q	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	42					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TTGGGTGATCCTGATCATGGT	0.577000														65			14		0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160857870	160857870	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:160857870C>T	uc003qti.3	+	5	1061	c.1034C>T	c.(1033-1035)cCc>cTc	p.P345L	SLC22A3_uc011efx.2_Intron	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	345						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GTGAGAACTCCCCAAATGAGG	0.343000														25			26		0	0	1	0	0
C19orf52	90580	broad.mit.edu	37	19	11040106	11040106	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11040106C>T	uc002mqd.2	+	1	586	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	YIPF2_uc002mqb.3_5'Flank|YIPF2_uc002mqc.3_5'Flank	NM_138358	NP_612367	Q9BSF4	CS052_HUMAN	Homo sapiens chromosome 19 open reading frame 52 (C19orf52), mRNA.	171										prostate(1)	1						CTTCGTGGGTCGCTGGTGGGT	0.701000														21			16		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62288742	62288742	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62288742G>A	uc001ntl.3	-	4	13447	c.13147C>T	c.(13147-13149)Ccc>Tcc	p.P4383S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4383					nervous system development	nucleus	protein binding	p.A4382T(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAGATTTTGGGGGCCTTGATG	0.483000														231			89		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7242219	7242219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7242219C>T	uc010sfy.2	-	3	594	c.535G>A	c.(535-537)Ggc>Agc	p.G179S	C1R_uc010sfz.1_Missense_Mutation_p.G193S|C1R_uc021quh.1_Missense_Mutation_p.G68S|C1R_uc010sga.1_Missense_Mutation_p.G145S	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	179	EGF-like; calcium-binding (Potential).				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	AGCTCATAGCCTGGACGGCAG	0.602000														93			23		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204953175	204953175	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204953175G>A	uc010prc.2	+	20	2721	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	NFASC_uc001hbj.3_Intron|NFASC_uc010pra.2_Missense_Mutation_p.E827K|NFASC_uc001hbi.3_Missense_Mutation_p.E827K|NFASC_uc010prb.2_Missense_Mutation_p.E842K|NFASC_uc001hbk.1_Missense_Mutation_p.E637K|NFASC_uc001hbl.2_Intron|NFASC_uc001hbm.2_5'Flank			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	831	Ig-like C2-type 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCGCCCACTGAAGTTAAAGT	0.557000														46			7		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164732947	164732947	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:164732947G>A	uc003fei.3	-	32	4026	c.3963C>T	c.(3961-3963)gtC>gtT	p.V1321V		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1321	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTGGCCATTTGACAAAGACAT	0.303000										HNSCC(35;0.089)				61			18		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32630909	32630909	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:32630909G>A	uc003zrg.1	-	0	4759	c.4669C>T	c.(4669-4671)Cca>Tca	p.P1557S	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.	1557	Bromo 2.				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)		TAATAATCTGGAACAAACTTC	0.388000														69			32		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51852422	51852422	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51852422G>A	uc001rys.1	+	6	1021	c.843G>A	c.(841-843)gtG>gtA	p.V281V	SLC4A8_uc010sni.2_Silent_p.V228V|SLC4A8_uc001rym.3_Silent_p.V228V|SLC4A8_uc001ryn.3_Silent_p.V228V|SLC4A8_uc001ryo.2_Silent_p.V228V|SLC4A8_uc001ryp.1_Silent_p.V228V|SLC4A8_uc010snj.2_Silent_p.V308V|SLC4A8_uc001ryq.4_Silent_p.V281V|SLC4A8_uc001ryr.3_Silent_p.V281V|SLC4A8_uc010snk.2_Silent_p.V228V	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	281					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ATAGTCCTGTGGATTTAAGCA	0.408000														81			15		0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22390168	22390168	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:22390168G>A	uc003gqm.1	-	18	3391	c.3126C>T	c.(3124-3126)ttC>ttT	p.F1042F	GPR125_uc010ieo.1_Silent_p.F898F|GPR125_uc003gql.1_Silent_p.F169F	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	1042					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GGTGGACCACGAAGAACGCAC	0.473000														32			50		0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27143469	27143469	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:27143469G>A	uc010sjl.2	-	5	1020	c.782C>T	c.(781-783)cCg>cTg	p.P261L		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	261						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATTTAGAAACGGGTCCCAAAC	0.483000														92			25		0	0	1	0	0
ERVFRD-1	405754	broad.mit.edu	37	6	11104936	11104936	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:11104936C>T	uc003mzt.3	-	1	1090	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	C6orf228_uc011dio.2_Intron|ERVFRD-1_uc021ylp.1_Missense_Mutation_p.R203Q	NM_207582	NP_997465	P60508	EFRD1_HUMAN	Homo sapiens endogenous retrovirus group FRD, member 1 (ERVFRD-1), mRNA.	203						integral to membrane|plasma membrane|virion		p.R203Q(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						CCAGAAGTTTCGAGTACTGCA	0.463000														126			55		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120491725	120491725	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:120491725G>A	uc001eik.3	-	15	2801	c.2504C>T	c.(2503-2505)gCt>gTt	p.A835V	NOTCH2_uc001eil.3_Missense_Mutation_p.A835V	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	835	EGF-like 22.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAACAGGGAGCCAATACTGT	0.413000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		95			44		0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16740758	16740758	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:16740758C>T	uc010exm.2	-	8	955	c.807G>A	c.(805-807)gtG>gtA	p.V269V	FAM49A_uc002rck.2_Silent_p.V269V	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	269						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			AGAAAGCTCCCACAGGGTGGA	0.468000														111			28		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79428193	79428193	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:79428193C>T	uc002kaf.2	+	24	6318	c.6318C>T	c.(6316-6318)ttC>ttT	p.F2106F	BAHCC1_uc002kae.2_Silent_p.F1398F	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	2168							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			ACGCGCCCTTCGTCGGGGGGA	0.721000														12			4		0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54147547	54147547	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:54147547C>T	uc003xrh.1	-	1	757	c.382G>A	c.(382-384)Gat>Aat	p.D128N	OPRK1_uc022aup.1_Missense_Mutation_p.D8N|OPRK1_uc003xri.1_Missense_Mutation_p.D128N|OPRK1_uc010lyc.1_Missense_Mutation_p.D39N	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	128					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CACAGCACATCCCCAAAAGGC	0.438000														77			42		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	424297	424297	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:424297G>A	uc003bot.3	+	17	2761	c.2119G>A	c.(2119-2121)Gaa>Aaa	p.E707K	CHL1_uc003bou.3_Missense_Mutation_p.E691K|CHL1_uc003bow.2_Missense_Mutation_p.E691K|CHL1_uc011asi.2_Missense_Mutation_p.E707K|BC065754_uc003box.1_Non-coding_Transcript	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	691					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGCCGTGAACGAAGTAGGGAG	0.463000														45			28		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71003108	71003108	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:71003108C>T	uc001swb.4	-	1	96	c.66G>A	c.(64-66)gcG>gcA	p.A22A	PTPRB_uc010sto.2_Silent_p.A22A|PTPRB_uc010stp.2_Silent_p.A22A|PTPRB_uc001swc.4_Silent_p.A240A|PTPRB_uc001swa.4_Silent_p.A240A|PTPRB_uc001swd.4_Silent_p.A239A|PTPRB_uc009zrr.2_Silent_p.A119A|PTPRB_uc001swe.3_Silent_p.A240A	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	22					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCTCTGGCTCCGCCAGTCCAG	0.522000														56			5		0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256436	69256436	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:69256436G>A	uc021rve.1	-	2	1132	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	ZFP36L1_uc001xki.2_Silent_p.F277F|ZFP36L1_uc001xkh.2_Silent_p.F277F	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	277					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCCGGAAGAGGAAGGTGGTCG	0.632000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		95			32		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67713779	67713779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:67713779C>T	uc002aqo.2	+	15	2466	c.2369C>T	c.(2368-2370)cCt>cTt	p.P790L	IQCH_uc002aqp.2_Missense_Mutation_p.P451L|IQCH_uc002aqq.2_Missense_Mutation_p.P447L|LOC100506686_uc002aqr.2_Non-coding_Transcript|LOC100506686_uc021spf.1_Non-coding_Transcript	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	790										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ACCACCGTGCCTCAGACCTCA	0.507000														92			18		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1254125	1254125	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1254125C>T	uc002cks.3	+	9	2366	c.2118C>T	c.(2116-2118)gcC>gcT	p.A706A	CACNA1H_uc002ckt.3_Silent_p.A706A	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	706					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)	GCACCCGTGCCCTGGAGGACC	0.672000														14			4		0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21743221	21743221	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:21743221G>A	uc002kve.3	-	27	2992	c.2775C>T	c.(2773-2775)ccC>ccT	p.P925P	OSBPL1A_uc002kvd.3_Silent_p.P412P|OSBPL1A_uc010xbc.2_Silent_p.P543P	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	925					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTCCATTGTAGGGATTAGGAC	0.408000														65			25		0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10383139	10383139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10383139G>A	uc003wta.3	+	0	84	c.44G>A	c.(43-45)gGa>gAa	p.G15E	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.G15E	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	15					proteolysis	integral to membrane	serine-type endopeptidase activity	p.T14T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CTGGTCACGGGAACTCAGCTC	0.677000														45			20		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100087130	100087130	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100087130G>A	uc003uvd.1	+	3	1945	c.1786G>A	c.(1786-1788)Gat>Aat	p.D596N	NYAP1_uc003uve.1_Missense_Mutation_p.D378N	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	596																	GCAAGGGACCGATGGGGGTGC	0.637000														60			31		0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32954811	32954811	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:32954811C>T	uc002ntg.3	+	13	1680	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	DPY19L3_uc002nth.2_Silent_p.F494F|DPY19L3_uc002nti.2_Non-coding_Transcript	NM_001172774	NP_997208	Q6ZPD9	D19L3_HUMAN	Homo sapiens dpy-19-like 3 (C. elegans) (DPY19L3), transcript variant 2, mRNA.	494						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TGTGTGTGTTCGCATCATTCG	0.443000														196			84		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41545673	41545673	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:41545673C>T	uc003xok.3	-	35	4342	c.4258_splice	c.e35+1	p.E1420_splice	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Splice_Site_p.E736_splice|ANK1_uc003xoi.3_Splice_Site_p.E1420_splice|ANK1_uc003xoj.3_Splice_Site_p.E1420_splice|ANK1_uc003xol.3_Splice_Site_p.E1420_splice|ANK1_uc003xom.3_Splice_Site_p.E1461_splice	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1420	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCCCACTCACCTGCCCAGCT	0.498000														183			54		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	98006768	98006768	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98006768C>T	uc001kls.4	-	1	263	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	BLNK_uc001kme.4_5'UTR|BLNK_uc001klt.4_5'UTR|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_5'UTR|BLNK_uc001klv.4_Missense_Mutation_p.E29K|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Missense_Mutation_p.E29K|BLNK_uc001kly.4_Missense_Mutation_p.E29K|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.E29K|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_5'UTR|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	29					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		ATTCCACCTTCATTGTTTTTA	0.259000														81			25		0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1686834	1686834	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1686834G>A	uc001aic.3	-	6	889	c.667C>T	c.(667-669)Caa>Taa	p.Q223*	NADK_uc001aid.4_Nonsense_Mutation_p.Q223*|NADK_uc001aie.3_Nonsense_Mutation_p.Q368*|NADK_uc010nyv.2_Nonsense_Mutation_p.Q191*|NADK_uc009vkx.1_Nonsense_Mutation_p.Q101*	NM_023018	NP_075394	O95544	NADK_HUMAN	Homo sapiens NAD kinase (NADK), transcript variant 1, mRNA.	223					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TGAGTAACTTGGGACTGAAAG	0.577000														260			19		0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150488671	150488671	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150488671G>A	uc022apx.1	-	5	887	c.761C>T	c.(760-762)tCa>tTa	p.S254L	TMEM176B_uc003whu.4_Missense_Mutation_p.S254L|TMEM176B_uc003whv.4_Missense_Mutation_p.S217L|TMEM176B_uc003whw.4_Missense_Mutation_p.S254L	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	254					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGGGCACTGAATTCTCCCC	0.532000														62			19		0	0	1	0	0
RIMS4	140730	broad.mit.edu	37	20	43385610	43385610	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43385610G>A	uc010ggu.3	-	4	590	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	RIMS4_uc002xms.3_Missense_Mutation_p.R174C	NM_001205317	NP_001192246	Q9H426	RIMS4_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 4 (RIMS4), transcript variant 1, mRNA.	174	C2.				exocytosis|neurotransmitter transport	cell junction|synapse		p.R174C(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				AGCGACTTGCGAGCGACTTTG	0.567000														282			122		0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75290181	75290181	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:75290181G>A	uc001juo.3	-	11	1565	c.1548C>T	c.(1546-1548)atC>atT	p.I516I	USP54_uc001juk.3_5'UTR|USP54_uc001jul.3_5'UTR|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Silent_p.I516I|U6_uc021ptn.1_5'Flank|USP54_uc010qkl.1_Silent_p.I516I	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	516					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GTCTGTTATGGATCATATTGC	0.502000														65			17		0	0	1	0	0
NECAB2	54550	broad.mit.edu	37	16	84024221	84024221	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84024221G>A	uc002fhd.3	+	5	599	c.582G>A	c.(580-582)caG>caA	p.Q194Q	NECAB2_uc002fhe.3_Silent_p.Q111Q	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN	Homo sapiens N-terminal EF-hand calcium binding protein 2 (NECAB2), mRNA.	194					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding	p.Q194Q(2)		endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						TCGAGGAACAGACCAGCCAGC	0.627000														42			20		0	0	1	0	0
P2RY12	64805	broad.mit.edu	37	3	151056222	151056222	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151056222G>A	uc003eyw.1	-	1	628	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Missense_Mutation_p.L138F|P2RY12_uc021xga.1_Missense_Mutation_p.L138F	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 12 (P2RY12), transcript variant 2, mRNA.	138					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	GCCCCCAAGAGATTTTTGGGG	0.423000														81			34		0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48565299	48565299	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:48565299G>A	uc010xzd.2	-	13	1580	c.1243C>T	c.(1243-1245)Cac>Tac	p.H415Y	PLA2G4C_uc002phw.3_Missense_Mutation_p.H340Y|PLA2G4C_uc010elr.3_Missense_Mutation_p.H405Y|PLA2G4C_uc002phx.3_Missense_Mutation_p.H405Y	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	405	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AGGATGAGGTGAACCTCCCGC	0.612000														103			34		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27692272	27692272	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:27692272C>T	uc001itu.2	-	2	1344	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	409	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CATTTTGTTTCGTATGCAGTC	0.443000														54			35		0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624387	123624387	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123624387G>A	uc010rzy.2	-	0	840	c.840C>T	c.(838-840)acC>acT	p.T280T		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCAGAAGGGGGGTGAGGATAG	0.443000														99			37		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10443963	10443963	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10443963C>T	uc010coi.3	-	10	1084	c.956G>A	c.(955-957)gGg>gAg	p.G319E	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.G319E|MYH2_uc010coj.3_Missense_Mutation_p.G319E	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	319	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G319W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACTGATCTCCCCTTGACTGAC	0.383000														28			8		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31355448	31355448	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:31355448G>A	uc021sia.1	-	6	1203	c.889C>T	c.(889-891)Cct>Tct	p.P297S	TRPM1_uc010azy.3_Missense_Mutation_p.P171S|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.P280S|TRPM1_uc001zfm.3_Missense_Mutation_p.P258S	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	258					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACCACGTTAGGGCCCCCCTCC	0.612000														108			41		0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145806329	145806329	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145806329G>A	uc003zds.1	-	3	968	c.413C>T	c.(412-414)tCc>tTc	p.S138F	ARHGAP39_uc011llk.1_Missense_Mutation_p.S138F|ARHGAP39_uc003zdt.1_Missense_Mutation_p.S138F	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	138					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CTCCAGGGAGGAGCTGGTGCT	0.716000														18			4		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733541	152733541	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152733541G>A	uc001fal.1	+	1	1535	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	KPRP_uc021ozf.1_Missense_Mutation_p.E493K	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	493	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCTGCAGGGAGACTTGGCG	0.652000														74			35		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17749924	17749924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17749924C>T	uc021uqk.1	-	24	3088	c.3046G>A	c.(3046-3048)Gaa>Aaa	p.E1016K		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1017					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTGTACAGTTCATGGCAGTTA	0.542000														20			4		0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52842628	52842628	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52842628C>T	uc003dfv.2	+	21	2640	c.2604C>T	c.(2602-2604)ttC>ttT	p.F868F	ITIH3_uc011bek.1_Silent_p.F676F	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	868					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TCTGCTGGTTCGTCCACAACA	0.532000														34			10		0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145894431	145894431	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:145894431C>T	uc003lod.1	-	0	1246	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	416						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTAACACCTTCCCCTGTCTCT	0.403000														16			6		0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74831805	74831805	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:74831805G>A	uc021ptk.1	-	2	339	c.307C>T	c.(307-309)Ctt>Ttt	p.L103F	P4HA1_uc010qka.2_Missense_Mutation_p.L103F|P4HA1_uc001jth.3_Missense_Mutation_p.L103F|P4HA1_uc001jtg.3_Missense_Mutation_p.L103F|P4HA1_uc010qkb.2_Missense_Mutation_p.L103F|P4HA1_uc021ptj.1_Missense_Mutation_p.L103F	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	103						endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATATCCTTAAGGACCAGATTC	0.363000														206			63		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907685	12907685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12907685G>A	uc010obf.2	-	1	684	c.458C>T	c.(457-459)tCa>tTa	p.S153L	LOC649330_uc009vno.2_Missense_Mutation_p.S153L	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	153							nucleic acid binding|nucleotide binding										GCCCCTTCGTGAGGTGTTTCC	0.498000														395			66		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24388527	24388527	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24388527C>T	uc001bin.4	-	32	4006	c.3843G>A	c.(3841-3843)ctG>ctA	p.L1281L	MYOM3_uc001bil.4_Silent_p.L174L|MYOM3_uc001bim.4_Silent_p.L938L	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1281										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTTGGGGTCCAGGATGTGAA	0.522000														188			57		0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119029946	119029946	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:119029946G>A	uc001ldd.2	+	14	1575	c.1412G>A	c.(1411-1413)cGa>cAa	p.R471Q	SLC18A2_uc009xyy.2_Missense_Mutation_p.R268Q	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	471					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TTTTTTCTTCGAAGTCCACCT	0.393000														109			18		0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184003362	184003362	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:184003362C>T	uc003fni.4	+	9	1637	c.1599C>T	c.(1597-1599)acC>acT	p.T533T	ECE2_uc011brh.1_Silent_p.T386T|ECE2_uc003fnl.4_Silent_p.T461T|ECE2_uc003fnm.4_Silent_p.T415T|ECE2_uc003fnk.4_Silent_p.T386T|ECE2_uc011bri.1_Silent_p.T448T|ECE2_uc010hxv.3_Silent_p.T177T	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	533	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.A533T(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCTGGAGACCCTCTATGGCA	0.512000														79			10		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038904	17038904	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17038904C>T	uc002nfb.3	-	24	3458	c.3426G>A	c.(3424-3426)gtG>gtA	p.V1142V		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1095						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCTCTCGTCCACCTCCATCT	0.642000														62			24		0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145641171	145641171	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:145641171C>T	uc003lnz.4	+	12	2158	c.1992C>T	c.(1990-1992)aaC>aaT	p.N664N	RBM27_uc003lny.2_Silent_p.N609N	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	664	RRM.				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)			TTCTAAACAACCGATTCATTC	0.468000														142			52		0	0	1	0	0
CD200R1L	344807	broad.mit.edu	37	3	112545989	112545989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:112545989C>T	uc003dzi.1	-	3	756	c.530G>A	c.(529-531)gGa>gAa	p.G177E	CD200R1L_uc010hqf.1_Missense_Mutation_p.G156E|CD200R1L_uc011bhw.1_Missense_Mutation_p.G156E	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	177	Ig-like C2-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						AAGAATAGATCCCTCTGGGAT	0.507000														35			13		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1558805	1558805	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:1558805G>A	uc002fte.3	-	36	5940	c.5826C>T	c.(5824-5826)gcC>gcT	p.A1942A		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1942	Involved in interaction with pre-mRNA 5' splice site.					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCACATGTAGGGCACGCAGAA	0.498000														57			41		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50278458	50278458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:50278458C>T	uc002lfe.2	+	1	742	c.126C>T	c.(124-126)ttC>ttT	p.F42F	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	42	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACTGCGCTTCCTCTCAGAAC	0.483000														44			15		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117681082	117681082	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:117681082C>T	uc003pxp.1	-	22	3737	c.3538G>A	c.(3538-3540)Gca>Aca	p.A1180T	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1180					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACTCTTTCTGCTGAAAACGTC	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									52			41		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572881	38572881	+	Missense_Mutation	SNP	C	T	T	rs147366609		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38572881C>T	uc002ohk.3	+	2	1185	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	226					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAACGAGTTCCGCAGCGAGCA	0.706000														70			21		0	0	1	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814709	54814709	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:54814709C>T	uc002lgm.3	+	0	417	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C						Homo sapiens biorientation of chromosomes in cell division 1 pseudogene (BOD1P), non-coding RNA.																		TGACAGCTTCCGCCGGGACTG	0.592000														9			4		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206480313	206480313	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:206480313C>T	uc002var.2	+	22	3601	c.3394C>T	c.(3394-3396)Ctc>Ttc	p.L1132F	PARD3B_uc002vao.2_Missense_Mutation_p.L1031F|PARD3B_uc002vap.2_Missense_Mutation_p.L1070F|PARD3B_uc002vaq.2_Missense_Mutation_p.L1063F	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	1132					cell cycle|cell division	endomembrane system|tight junction		p.Q1132_D1133>HY(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCCCACAGAGCTCAGGGTGGC	0.617000														106			30		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907474	12907474	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12907474C>T	uc010obf.2	-	1	895	c.669G>A	c.(667-669)gaG>gaA	p.E223E	LOC649330_uc009vno.2_Silent_p.E223E	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	223							nucleic acid binding|nucleotide binding										TACTGCTCTGCTCCTCTTCTG	0.463000														180			62		0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446940	169446940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169446940G>A	uc001gge.4	-	1	464	c.260C>T	c.(259-261)cCt>cTt	p.P87L	SLC19A2_uc001ggf.4_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA.	87					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					AAGGAACACAGGAAACAGTAG	0.403000														21			10		0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100950384	100950384	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:100950384C>T	uc010avx.3	+	3	1117	c.1024C>T	c.(1024-1026)Cat>Tat	p.H342Y	WDR25_uc001yhn.3_Missense_Mutation_p.H342Y|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_Missense_Mutation_p.H85Y	NM_001161476	NP_078791	Q64LD2	WDR25_HUMAN	Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA.	342										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CTTGAAATTCCATCCAAAAGA	0.398000														127			46		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605745	171605745	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171605745G>A	uc001ghu.3	-	2	857	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	MYOC_uc010pmk.2_Missense_Mutation_p.P221S	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	279	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGGGTGTAGGGGTAGGTGGGC	0.537000														62			46		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526574	23526574	+	Silent	SNP	G	A	A	rs112001060		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:23526574G>A	uc003jgo.3	+	10	1559	c.1377G>A	c.(1375-1377)agG>agA	p.R459R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	459					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R459S(2)|p.E458*(2)		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						TCAAAGAAAGGTCCAAACTCT	0.468000										HNSCC(3;0.000094)				28			10		0	0	1	0	0
AARS	16	broad.mit.edu	37	16	70298899	70298899	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:70298899G>A	uc002eyn.1	-	10	1564	c.1454C>T	c.(1453-1455)cCa>cTa	p.P485L	AARS_uc010vlu.1_Missense_Mutation_p.P315L	NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	485					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	ATTGTACTTTGGGGAATCATC	0.517000														37			22		0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159384	152159384	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:152159384C>T	uc022chn.1	-	0	759	c.759G>A	c.(757-759)ccG>ccA	p.P253P	PNMA5_uc010ntx.3_Silent_p.P253P|PNMA5_uc010ntw.3_Silent_p.P253P|PNMA5_uc004fgy.4_Silent_p.P253P|PNMA5_uc022chm.1_Silent_p.P253P	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	253					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCAATCTTCGGAGAGGTCT	0.522000														26			45		0	0	1	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87151852	87151852	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:87151852G>A	uc003ydp.1	+	2	538	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	157					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CATTCTGATCGAAACGCCATT	0.418000														74			30		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149046	34149046	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:34149046C>T	uc004ddg.3	-	0	1402	c.1350G>A	c.(1348-1350)aaG>aaA	p.K450K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	450										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCTTAGTTTTCTTCACCCGGG	0.552000														20			26		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690308	99690308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:99690308C>T	uc001pga.3	+	3	593	c.89C>T	c.(88-90)tCa>tTa	p.S30L	CNTN5_uc009ywv.2_Missense_Mutation_p.S30L|CNTN5_uc001pfz.3_Missense_Mutation_p.S30L|CNTN5_uc021qpb.1_Missense_Mutation_p.S30L|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	30					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTCTCCACTTCATATGCTGCT	0.338000														145			16		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8928844	8928844	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:8928844G>A	uc002qzc.2	-	14	1902	c.1720C>T	c.(1720-1722)Ctc>Ttc	p.L574F	KIDINS220_uc010yiv.1_Missense_Mutation_p.L340F|KIDINS220_uc002qzd.2_Missense_Mutation_p.L532F|KIDINS220_uc010yiw.1_Missense_Mutation_p.L575F	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	574	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATTTAAGGAGGAGTTCCAAA	0.428000														98			35		0	0	1	0	0
SDAD1	55153	broad.mit.edu	37	4	76879000	76879000	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:76879000G>A	uc003hje.4	-	18	1697	c.1578_splice	c.e18+1	p.I526_splice	SDAD1_uc003hjf.4_Splice_Site_p.I429_splice|SDAD1_uc011cbr.2_Splice_Site_p.I489_splice	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	526					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCAGACTTACGATTTCTTGCT	0.423000														127			58		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98369528	98369528	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98369528G>A	uc001kmq.3	-	13	2239	c.2111C>T	c.(2110-2112)cCc>cTc	p.P704L	PIK3AP1_uc001kmo.3_Missense_Mutation_p.P303L|PIK3AP1_uc001kmp.3_Missense_Mutation_p.P526L	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	704						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)		CGTCCTAGGGGGAATGACACT	0.577000														255			111		0	0	1	0	0
SPO11	23626	broad.mit.edu	37	20	55908293	55908293	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:55908293A>C	uc002xye.3	+	2	388	c.295A>C	c.(295-297)Aag>Cag	p.K99Q	SPO11_uc002xyf.3_Missense_Mutation_p.K61Q	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	Homo sapiens SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae) (SPO11), transcript variant 1, mRNA.	99					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			CACCACCAGAAAGATCAAAAG	0.308000								Editing and processing nucleases						68			8		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128491627	128491627	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128491627C>T	uc003vnz.4	+	34	5996	c.5787C>T	c.(5785-5787)atC>atT	p.I1929I	FLNC_uc003voa.4_Silent_p.I1896I	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1929					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACAGCATCATCGTGCGCTTCG	0.587000														76			30		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63885483	63885483	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63885483G>A	uc021qks.1	+	0	1744	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.E582K	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	554					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CCAGGCTGGCGAGCTGCTGAC	0.627000														52			4		0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15374430	15374430	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:15374430C>T	uc003nbj.3	+	1	372	c.128C>T	c.(127-129)tCc>tTc	p.S43F	JARID2_uc011diu.1_5'UTR|JARID2_uc011div.2_5'UTR	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	43					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TTCAAGAATTCCCAGAAGAGG	0.443000														131			65		0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241535813	241535813	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241535813C>T	uc002vzk.2	+	7	1552	c.1356C>T	c.(1354-1356)gaC>gaT	p.D452D	CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Intron|CAPN10_uc002vzn.2_Silent_p.D324D|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	452	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		ATGCATACGACCGGGAGGTCC	0.652000														86			13		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133895173	133895173	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133895173C>T	uc003ytw.3	+	7	1045	c.1004C>T	c.(1003-1005)cCc>cTc	p.P335L		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	335	Thyroglobulin type-1 4.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACGGAAGGGCCCTGCTGGTGT	0.607000														32			19		0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119911838	119911838	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:119911838T>A	uc011bjf.2	-	3	802	c.422A>T	c.(421-423)aAg>aTg	p.K141M	GPR156_uc011bjg.2_Missense_Mutation_p.K141M	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	141						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TCGCCAGCTCTTTCCCAGAAT	0.512000														84			20		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107360936	107360936	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107360936C>T	uc011lvp.2	-	0	759	c.759G>A	c.(757-759)ggG>ggA	p.G253G		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GGAAGATGGTCCCACAGAATG	0.428000														85			22		0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219483369	219483369	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219483369G>A	uc021vwx.1	+	3	588	c.249G>A	c.(247-249)gaG>gaA	p.E83E	PLCD4_uc021vww.1_Non-coding_Transcript|PLCD4_uc002vik.1_5'Flank|PLCD4_uc010zkk.1_5'Flank	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	83	PH.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCCTGGCAGAGGAGCTCCCCC	0.557000														38			18		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133704	22133704	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22133704G>A	uc010tmd.2	+	0	408	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CCAATGTGATGAACATGAGAG	0.483000														126			69		0	0	1	0	0
NDRG1	10397	broad.mit.edu	37	8	134261013	134261013	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:134261013G>A	uc003yuh.2	-	11	1285	c.699_splice	c.e11-1	p.S233_splice	NDRG1_uc003yuf.1_Splice_Site_p.S44_splice|NDRG1_uc003yug.2_Splice_Site_p.S233_splice|NDRG1_uc010mee.2_Splice_Site_p.S152_splice|NDRG1_uc010mef.2_Splice_Site_p.S167_splice|NDRG1_uc011ljh.1_Splice_Site_p.S61_splice|NDRG1_uc011lji.1_Intron	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.	233					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AGGTCGCGCCGGCTGCAGGAA	0.607000			T	ERG	prostate									100			11		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519613	113519613	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:113519613C>T	uc010ljy.1	-	3	1565	c.1534G>A	c.(1534-1536)Ggc>Agc	p.G512S		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	512					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTACCATTGCCATAATAATCT	0.323000														34			10		0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919144	12919144	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12919144C>T	uc001aum.1	+	1	367	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	94										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGAAGGATCGCCCCAGGTG	0.552000														308			95		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067485	190067485	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:190067485G>A	uc001gse.1	-	7	2196	c.1964C>T	c.(1963-1965)tCc>tTc	p.S655F	FAM5C_uc010pot.1_Missense_Mutation_p.S553F	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	655						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)					CAGGTTCCGGGAAGGGTCAAT	0.443000														131			42		0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36634028	36634028	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:36634028G>A	uc022abu.1	-	11	1256	c.855C>T	c.(853-855)ttC>ttT	p.F285F	AOAH_uc003tfh.4_Silent_p.F285F|AOAH_uc011kba.2_Silent_p.F253F	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	285					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GTAGATTGATGAAAGAGTTCT	0.413000														42			25		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233393906	233393906	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233393906C>T	uc001hvl.2	-	4	1937	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R	PCNXL2_uc009xfu.3_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.	568						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)				GGCATTTGTCCTTCCTTAGCC	0.423000														54			14		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501994	140501994	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140501994C>T	uc003lip.1	+	0	414	c.414C>T	c.(412-414)ctC>ctT	p.L138L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	138	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGAAGTGCTCTTGAAAATAC	0.408000														86			30		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519690	113519690	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:113519690C>T	uc010ljy.1	-	3	1488	c.1457G>A	c.(1456-1458)cGa>cAa	p.R486Q		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	486					glycogen metabolic process	integral to membrane		p.R486Q(4)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAAATCTCTTCGTAAACATCC	0.363000														52			11		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573729	38573729	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38573729C>T	uc002ohk.3	+	2	2033	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	508					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGATTACTTCGTGGGCAAAG	0.622000														30			22		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126136884	126136884	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:126136884G>A	uc004bnx.1	+	10	3508	c.3416G>A	c.(3415-3417)aGc>aAc	p.S1139N		NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	1139	EGF-like 14.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AAGGAGTGCAGCCTGAATGTC	0.662000														56			5		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216420478	216420478	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:216420478C>T	uc001hku.1	-	12	2645	c.2258G>A	c.(2257-2259)gGc>gAc	p.G753D	USH2A_uc001hkv.3_Missense_Mutation_p.G753D	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	753	Laminin EGF-like 5.				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)		GTTCACTGAGCCATGGAGGTT	0.428000										HNSCC(13;0.011)				145			13		0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129205174	129205174	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:129205174G>A	uc004evd.4	-	6	1035	c.650C>T	c.(649-651)gCt>gTt	p.A217V	ELF4_uc004eve.4_Missense_Mutation_p.A217V	NM_001421	NP_001412	Q99607	ELF4_HUMAN	Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA.	217					NK T cell proliferation|natural killer cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TTGCAGAAGAGCCAGGAGGAA	0.597000			T	ERG	AML									27			45		0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27473142	27473142	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:27473142G>A	uc011aww.2	-	6	1018	c.797C>T	c.(796-798)tCc>tTc	p.S266F	SLC4A7_uc011awx.2_Missense_Mutation_p.S253F|SLC4A7_uc021wun.1_Intron|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.S249F|SLC4A7_uc011awz.2_Intron|SLC4A7_uc011axa.2_Intron|SLC4A7_uc011axb.2_Missense_Mutation_p.S253F|SLC4A7_uc021wul.1_Intron|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Intron|SLC4A7_uc021wum.1_Intron|SLC4A7_uc003cdu.4_Intron|SLC4A7_uc010hfm.2_Intron|SLC4A7_uc003cdv.3_Missense_Mutation_p.S257F|SLC4A7_uc003cdw.3_Intron	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	257						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						AGAGTGGCGGGAGGCTGAAAG	0.398000														74			23		0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66478830	66478830	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:66478830C>T	uc003juy.2	-	2	1989	c.1841G>A	c.(1840-1842)aGg>aAg	p.R614K		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	614	LRRCT.				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CTTAACTCCCCTTAGAGATGG	0.413000														79			37		0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230492691	230492691	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:230492691G>A	uc010pwb.2	-	1	525	c.501C>T	c.(499-501)ctC>ctT	p.L167L		NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	Homo sapiens piggyBac transposable element derived 5 (PGBD5), mRNA.	167						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GCAGGGAGTCGAGGAAGGGCT	0.612000														67			20		0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41135376	41135376	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41135376C>T	uc002ooh.1	+	33	4793	c.4793C>T	c.(4792-4794)tCc>tTc	p.S1598F	LTBP4_uc002oog.1_Missense_Mutation_p.S1561F|LTBP4_uc002ooi.1_Missense_Mutation_p.S1531F|LTBP4_uc002ooj.1_Missense_Mutation_p.S472F|LTBP4_uc002ool.1_Missense_Mutation_p.S611F|LTBP4_uc010xvp.1_Missense_Mutation_p.S359F	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1599	EGF-like 16.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACGGATGGCTCCTTCCGCTGC	0.701000														45			23		0	0	1	0	0
ZNF200	7752	broad.mit.edu	37	16	3274282	3274282	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3274282G>A	uc002cuj.2	-	4	1430	c.798C>T	c.(796-798)taC>taT	p.Y266Y	ZNF200_uc002cum.3_Silent_p.Y265Y|ZNF200_uc002cuk.2_Silent_p.Y266Y|ZNF200_uc010bti.2_Silent_p.Y265Y|ZNF200_uc002cui.2_Silent_p.Y265Y|ZNF200_uc002cul.3_Silent_p.Y265Y	NM_003454	NP_932354	P98182	ZN200_HUMAN	Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA.	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						GGGAAATGAGGTAAGAACTTT	0.408000														49			30		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232551301	232551301	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:232551301G>A	uc001hvg.3	-	16	4859	c.4701C>T	c.(4699-4701)ctC>ctT	p.L1567L	SIPA1L2_uc001hvf.3_Silent_p.L641L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1567					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGTGTCCGGGAGGGGCATCA	0.542000														123			39		0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29390737	29390737	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:29390737C>T	uc001zck.3	+	7	1500	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	APBA2_uc010azj.2_Silent_p.F420F|APBA2_uc010uat.2_Silent_p.F420F|APBA2_uc001zcl.3_Silent_p.F420F|APBA2_uc001zcm.1_Silent_p.F124F	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	432	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGGACCTCTTCATTTCCACCC	0.443000														62			19		0	0	1	0	0
BTBD3	22903	broad.mit.edu	37	20	11903963	11903963	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:11903963C>T	uc002wnz.3	+	3	1577	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	BTBD3_uc002wny.3_Silent_p.F345F|BTBD3_uc002woa.3_Silent_p.F345F|BTBD3_uc010zrf.2_Silent_p.F255F|BTBD3_uc010zrg.2_Silent_p.F255F|BTBD3_uc010zrh.2_Silent_p.F255F	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	406										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AAAGAGTGTTCATTGCTGGCT	0.522000														55			23		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131521621	131521621	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:131521621G>A	uc021voy.1	+	0	1976	c.1976G>A	c.(1975-1977)aGg>aAg	p.R659K	FAM123C_uc002trw.2_Missense_Mutation_p.R659K|FAM123C_uc010fmv.2_Missense_Mutation_p.R659K|FAM123C_uc010fms.1_Missense_Mutation_p.R659K|FAM123C_uc010fmt.1_Missense_Mutation_p.R659K|FAM123C_uc010fmu.1_Missense_Mutation_p.R659K	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	659										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGCCCCTGGAGGCCAGGTCAC	0.632000														13			5		0	0	1	0	0
BATF	10538	broad.mit.edu	37	14	76013005	76013005	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:76013005C>G	uc001xrr.3	+	2	611	c.369C>G	c.(367-369)ttC>ttG	p.F123L		NM_006399	NP_006390	Q16520	BATF_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like (BATF), mRNA.	123						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		CCCCGCGCTTCCAGCCCTGAG	0.697000														14			6		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275666	130275666	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:130275666G>T	uc001qgg.4	-	8	2815	c.2457C>A	c.(2455-2457)agC>agA	p.S819R	ADAMTS8_uc001qgf.3_Missense_Mutation_p.S300R	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	819	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTCTCTCTTTGCTGCTCTGCA	0.577000														191			63		7.55815e-43	7.60611e-43	1	1	0
PCNXL2	80003	broad.mit.edu	37	1	233150519	233150519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233150519G>A	uc001hvl.2	-	27	5079	c.4844C>T	c.(4843-4845)tCa>tTa	p.S1615L	PCNXL2_uc001hvk.1_Missense_Mutation_p.S267L|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1615						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)				CAGGGTCGTTGAAGGCTGAAA	0.502000														51			16		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33628011	33628011	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:33628011C>T	uc001uus.3	+	1	935	c.927C>T	c.(925-927)acC>acT	p.T309T	KL_uc001uur.1_Silent_p.T2T	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	309	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GAAGAATGACCGACCACAGCA	0.463000														183			56		0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124248484	124248484	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124248484C>T	uc001lgj.2	+	1	667	c.539C>T	c.(538-540)gCc>gTc	p.A180V		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	180					proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				GAGAAGATCGCCCCTGCCGTG	0.448000														108			37		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98545880	98545880	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:98545880C>T	uc003upp.3	+	32	4773	c.4564C>T	c.(4564-4566)Cat>Tat	p.H1522Y	TRRAP_uc011kis.2_Missense_Mutation_p.H1504Y|TRRAP_uc003upr.3_Missense_Mutation_p.H1221Y	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1522					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAACCTTTTTCATCTGATCCC	0.438000														74			38		0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170159870	170159870	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:170159870G>A	uc003mas.3	+	6	1064	c.535G>A	c.(535-537)Gag>Aag	p.E179K	KCNIP1_uc003map.3_Missense_Mutation_p.E177K|KCNIP1_uc003mat.3_Missense_Mutation_p.E168K|KCNIP1_uc010jjp.3_Missense_Mutation_p.E140K|KCNIP1_uc010jjq.3_Missense_Mutation_p.E193K	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	179					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTGCTCAAAGAGGACACTCC	0.498000														59			21		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791659	95791659	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95791659G>A	uc001kjk.3	+	1	1490	c.856G>A	c.(856-858)Gac>Aac	p.D286N	PLCE1_uc010qnx.2_Missense_Mutation_p.D286N	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	286					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTGTAGGAAAGACTTTACTGA	0.378000														128			32		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78369603	78369603	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:78369603G>A	uc001ozl.4	-	33	8273	c.7810C>T	c.(7810-7812)Cta>Tta	p.L2604L	ODZ4_uc001ozk.4_Silent_p.L829L	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2604					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AGGTTCTCTAGGTAGTGGGCA	0.542000														28			12		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105161027	105161027	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:105161027C>T	uc003yls.3	+	22	3580	c.3339C>T	c.(3337-3339)atC>atT	p.I1113I	RIMS2_uc003ylp.3_Intron|RIMS2_uc003ylw.2_Silent_p.I1102I|RIMS2_uc003ylq.3_Intron|RIMS2_uc003ylr.3_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	541					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)			TGGTAGCTATCGTTGGTCTGT	0.483000										HNSCC(12;0.0054)				56			25		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95422344	95422344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95422344G>A	uc001kiu.4	+	19	2449	c.2311G>A	c.(2311-2313)Gaa>Aaa	p.E771K		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	771					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CAAAAGAGATGAATTACCTAA	0.279000														57			15		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136597593	136597593	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:136597593G>A	uc004cep.4	-	2	596	c.462C>T	c.(460-462)ttC>ttT	p.F154F	SARDH_uc004ceo.3_Silent_p.F154F|SARDH_uc011mdo.2_5'UTR|SARDH_uc011mdn.2_Silent_p.F154F	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	154					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGGACGCGATGAAGAGGCCCC	0.672000														129			66		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141609344	141609344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141609344G>A	uc002tvj.1	-	27	5560	c.4588C>T	c.(4588-4590)Cct>Tct	p.P1530S	LRP1B_uc010fnl.1_Missense_Mutation_p.P712S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1530					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCTGCACAAGGATTGGGAGCT	0.453000										TSP Lung(27;0.18)				100			35		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24873522	24873522	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:24873522G>A	uc001isb.2	-	25	6183	c.5696C>T	c.(5695-5697)tCt>tTt	p.S1899F	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1898					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGTGCTGGAAGAACTGCCTGT	0.493000														107			47		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54778665	54778665	+	Missense_Mutation	SNP	G	A	A	rs150493192	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54778665G>A	uc002qfb.3	-	13	1935	c.1669C>T	c.(1669-1671)Ccc>Tcc	p.P557S	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_3'UTR|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.P556S|LILRB2_uc010yet.2_Missense_Mutation_p.P441S	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	557					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACATCCTGGGGGGCTTCAGAT	0.637000														67			29		0	0	1	0	0
LIN9	286826	broad.mit.edu	37	1	226453307	226453307	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:226453307G>A	uc001hqa.2	-	9	1323	c.1013C>T	c.(1012-1014)cCg>cTg	p.P338L	LIN9_uc001hqb.2_Missense_Mutation_p.P303L|LIN9_uc001hqc.3_Missense_Mutation_p.P270L|LIN9_uc009xel.1_Missense_Mutation_p.P303L	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	322					DNA replication|cell cycle	nucleoplasm				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)		ACTTCTCCACGGCGACTGTCC	0.318000														50			16		0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156283289	156283289	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:156283289G>A	uc003ios.3	-	5	977	c.713C>T	c.(712-714)tCa>tTa	p.S238L	MAP9_uc011cin.2_Missense_Mutation_p.S237L|MAP9_uc010iqa.1_Non-coding_Transcript|MAP9_uc003iot.1_Missense_Mutation_p.S237L	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	238					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TGTTAAGCATGAATCCTGTTT	0.318000														59			26		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16918926	16918926	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16918926G>A	uc002neu.4	+	17	4688	c.4266G>A	c.(4264-4266)tgG>tgA	p.W1422*	NWD1_uc002net.4_Nonsense_Mutation_p.W1287*|NWD1_uc002nev.4_Nonsense_Mutation_p.W1216*|NWD1_uc021uqg.1_Nonsense_Mutation_p.W1287*	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1422							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						CACGCAAGTGGAAATTCGAGA	0.567000														51			23		0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114380799	114380799	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:114380799G>A	uc001eds.3	-	12	1353	c.1223C>T	c.(1222-1224)cCt>cTt	p.P408L	PTPN22_uc021orx.1_Missense_Mutation_p.P408L|PTPN22_uc009wgq.3_Missense_Mutation_p.P353L|PTPN22_uc021ory.1_Missense_Mutation_p.P384L|PTPN22_uc010owo.2_Missense_Mutation_p.P164L|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.P408L|PTPN22_uc009wgs.2_Missense_Mutation_p.P281L|PTPN22_uc001edu.2_Missense_Mutation_p.P408L	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	408					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCTGAAGAGGCTCCCCAAC	0.378000														99			6		0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73964105	73964105	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:73964105C>T	uc003hgp.3	-	25	4823	c.4706G>A	c.(4705-4707)aGg>aAg	p.R1569K	ANKRD17_uc003hgo.3_Missense_Mutation_p.R1456K|ANKRD17_uc003hgq.3_Missense_Mutation_p.R1318K|ANKRD17_uc003hgr.3_Missense_Mutation_p.R1568K	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1569					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTGTTTTTCCTCTTTGAACT	0.373000														106			43		0	0	1	0	0
immunoglobulin_heavy_chain	0	broad.mit.edu	37	14	107034953	107034953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:107034953C>T	uc001ysz.3	-	1	156	c.127G>A	c.(127-129)Ggt>Agt	p.G43S	abParts_uc021ser.1_Non-coding_Transcript					Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene.																		TATCCAGAACCCTTACAGGAG	0.567000														30			10		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924844	188924844	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:188924844C>T	uc003izh.1	+	3	1291	c.883C>T	c.(883-885)Cac>Tac	p.H295Y	ZFP42_uc003izi.1_Missense_Mutation_p.H295Y|ZFP42_uc021xvm.1_Missense_Mutation_p.H295Y	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	295					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CCTGAAAGCCCACATCCTAAC	0.463000														42			10		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94652133	94652133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94652133G>A	uc001dqj.4	-	15	2071	c.1702C>T	c.(1702-1704)Cca>Tca	p.P568S	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.P134S	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	568					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GGTGTTCGTGGAAGTTTTCGA	0.373000														138			68		0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36431004	36431004	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36431004C>T	uc002oco.3	+	1	1129	c.677C>T	c.(676-678)tCc>tTc	p.S226F		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.	226					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCACTCTTCTCCCGCCTGCCC	0.701000														130			50		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345121	20345121	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20345121G>A	uc001vwh.1	+	0	695	c.695G>A	c.(694-696)gGa>gAa	p.G232E		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G232R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTCCAGAGGATCATCTAAG	0.383000														142			56		0	0	1	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940217	67940217	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:67940217G>A	uc001xjk.3	-	2	834	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.L142F	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	142						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TCGAAGCGGAGGCGGAGGGTG	0.657000														41			16		0	0	1	0	0
SFTPA1	653509	broad.mit.edu	37	10	81372178	81372178	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81372178G>A	uc009xry.3	+	3	410	c.328G>A	c.(328-330)Ggc>Agc	p.G110S	SFTPA1_uc001kap.3_Missense_Mutation_p.G95S|SFTPA1_uc001kar.3_Missense_Mutation_p.G95S|SFTPA1_uc001kaq.3_Missense_Mutation_p.G95S|SFTPA1_uc001kao.3_Missense_Mutation_p.G61S|SFTPA1_uc021puu.1_Missense_Mutation_p.G46S|SFTPA1_uc010qlt.2_Missense_Mutation_p.G36S|SFTPA1_uc009xrz.3_Intron	NM_001093770	NP_005402	Q8IWL2	SFTA1_HUMAN	Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA.	95					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TGGCGAGAGGGGCCCTCCAGG	0.612000														72			103		0	0	1	0	0
C10orf62	414157	broad.mit.edu	37	10	99350007	99350007	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:99350007C>T	uc001koa.3	+	0	558	c.353C>T	c.(352-354)tCc>tTc	p.S118F	PI4K2A_uc001knx.2_Intron|PI4K2A_uc001kny.3_Intron|PI4K2A_uc001knz.3_Intron|PI4K2A_uc010qoy.1_Intron	NM_001009997	NP_001009997	Q5T681	CJ062_HUMAN	Homo sapiens chromosome 10 open reading frame 62 (C10orf62), mRNA.	118							protein binding			endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		AAAGCCCCATCCACTGATGAG	0.627000														48			26		0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160850442	160850442	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160850442G>A	uc001fxc.3	-	5	737	c.621C>T	c.(619-621)atC>atT	p.I207I		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	207	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGACCACAGGGATCACCGGGC	0.443000														164			72		0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205042351	205042351	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205042351C>T	uc001hbr.3	+	21	3269	c.3000C>T	c.(2998-3000)atC>atT	p.I1000I	CNTN2_uc001hbs.3_Silent_p.I788I	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	1000	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGTCCACATCGTGAGGAATG	0.567000														64			22		0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41298734	41298734	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:41298734T>G	uc001cgh.2	+	10	1644	c.1562T>G	c.(1561-1563)cTc>cGc	p.L521R	KCNQ4_uc001cgi.2_Missense_Mutation_p.L467R	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	521					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CAGTGTGAGCTCACGGTGGAC	0.602000														65			14		0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785747	12785747	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12785747C>T	uc009vnn.1	+	3	1070	c.837C>T	c.(835-837)ctC>ctT	p.L279L	AADACL3_uc001aug.1_Silent_p.L209L	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	279							hydrolase activity	p.K278M(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCTCAGCTCCCGGAAACCT	0.522000														89			58		0	0	1	0	0
CENPH	64946	broad.mit.edu	37	5	68492933	68492933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:68492933C>T	uc003jvp.3	+	4	455	c.368C>T	c.(367-369)tCt>tTt	p.S123F	CENPH_uc010ixc.3_Intron	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN	Homo sapiens centromere protein H (CENPH), mRNA.	123					CenH3-containing nucleosome assembly at centromere|cell division|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		AGCAGACAGTCTAGGTATGAT	0.328000														55			14		0	0	1	0	0
PHF16	9767	broad.mit.edu	37	X	46913813	46913813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:46913813C>T	uc004dgx.3	+	8	1277	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	PHF16_uc004dgy.3_Missense_Mutation_p.S409F	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	409					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GAGTTCTATTCCTTGGTACGA	0.532000														21			23		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236898958	236898958	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:236898958G>A	uc001hyf.2	+	7	925	c.721G>A	c.(721-723)Gat>Aat	p.D241N	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Intron|ACTN2_uc010pxu.1_Intron	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	241	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCCTAAACCCGATGAAAGAGC	0.537000														64			21		0	0	1	0	0
CLDN23	137075	broad.mit.edu	37	8	8560001	8560001	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:8560001G>A	uc003wsi.3	+	0	336	c.93G>A	c.(91-93)cgG>cgA	p.R31R		NM_194284	NP_919260	Q96B33	CLD23_HUMAN	Homo sapiens claudin 23 (CLDN23), mRNA.	31					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CCGGCTGGCGGCTGGTGAAGG	0.706000														11			5		0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46237647	46237648	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:46237647_46237648CC>TT	uc002rut.3	+	9	1625_1626	c.1428_1429CC>TT	c.(1426-1431)ttccag>ttTTag	p.Q477*		NM_005400	NP_005391	Q02156	KPCE_HUMAN	Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.	477	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	p.F476L(2)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			ACTGCTGCTTCCAGACCAAGGT	0.470000														67			10		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123615708	123615708	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:123615708C>T	uc010nqy.3	-	21	3887	c.3823G>A	c.(3823-3825)Gag>Aag	p.E1275K	ODZ1_uc011muj.2_Missense_Mutation_p.E1274K|ODZ1_uc004euj.3_Missense_Mutation_p.E1268K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1268					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TCTTTCGTCTCCACAAGAGAT	0.458000														72			20		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76395539	76395539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:76395539C>T	uc021rkq.1	+	13	2769	c.2434C>T	c.(2434-2436)Cct>Tct	p.P812S	LMO7_uc010thv.2_Missense_Mutation_p.P530S|LMO7_uc001vjt.1_Missense_Mutation_p.P478S|LMO7_uc001vjv.3_Missense_Mutation_p.P579S|LMO7_uc010thw.2_Missense_Mutation_p.P429S|LMO7_uc001vjw.1_Missense_Mutation_p.P485S	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	864						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AATTCAGCTTCCTTCTCAAAG	0.443000														128			8		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141752740	141752740	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141752740C>T	uc003vwy.3	+	25	3169	c.3115C>T	c.(3115-3117)Cgc>Tgc	p.R1039C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1039					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)	GAACCCCCTTCGCCTGGATGT	0.458000														57			11		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52554926	52554926	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52554926G>A	uc003dej.3	+	54	5887	c.5813G>A	c.(5812-5814)aGg>aAg	p.R1938K	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1938					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.R1938R(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTTTGGGGTAGGCCCCAAGGC	0.642000														72			16		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50052708	50052708	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:50052708C>T	uc004dox.4	+	5	1837	c.1539C>T	c.(1537-1539)acC>acT	p.T513T	CCNB3_uc004doy.3_Silent_p.T513T|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	513					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TACAGACCACCTCTGGAGAAA	0.428000														27			7		0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23019033	23019033	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:23019033C>T	uc004daj.3	+	0	956	c.859C>T	c.(859-861)Caa>Taa	p.Q287*		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	287	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TCTTGATTCTCAACCAATATC	0.418000														31			36		0	0	1	0	0
PLK1S1	55857	broad.mit.edu	37	20	21143493	21143493	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:21143493C>T	uc002wsb.3	+	5	1178	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	PLK1S1_uc010zsh.2_Missense_Mutation_p.H246Y|PLK1S1_uc010zsi.2_Missense_Mutation_p.H216Y|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Non-coding_Transcript|PLK1S1_uc002wsd.3_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	349					spindle organization	centrosome	protein kinase binding										ACTTGCAGATCATCTTGCTCA	0.443000														24			10		0	0	1	0	0
C17orf57	124989	broad.mit.edu	37	17	45451937	45451937	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:45451937C>T	uc002iln.3	+	11	1408	c.977C>T	c.(976-978)tCt>tTt	p.S326F	C17orf57_uc002ilm.3_Missense_Mutation_p.S230F|C17orf57_uc002ill.1_Missense_Mutation_p.S82F|C17orf57_uc010daz.1_Missense_Mutation_p.S278F	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	326							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						AATAGTTTGTCTTCCAAACTC	0.303000														42			29		0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898307	30898307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30898307C>T	uc002wxq.3	+	1	907	c.727C>T	c.(727-729)Ctt>Ttt	p.L243F	KIF3B_uc010ztv.2_Missense_Mutation_p.L243F|KIF3B_uc010ztw.2_Missense_Mutation_p.L243F	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	243	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAAATTGAACCTTGTAGATCT	0.512000														42			23		0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626490	49626490	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:49626490G>A	uc002xwa.4	-	1	681	c.386C>T	c.(385-387)aCc>aTc	p.T129I	KCNG1_uc002xwb.3_Missense_Mutation_p.T129I	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	129						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCGCAGGAAGGTCAGGATAGT	0.632000														61			23		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241710444	241710444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241710444G>A	uc010fzk.3	-	14	1532	c.1285C>T	c.(1285-1287)Ctc>Ttc	p.L429F	KIF1A_uc002vzy.3_Missense_Mutation_p.L420F|KIF1A_uc002vzz.2_Missense_Mutation_p.L429F	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	420					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGCTCGTGGAGGCTGGACACG	0.642000														54			30		0	0	1	0	0
RARRES3	5920	broad.mit.edu	37	11	63313703	63313703	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63313703G>A	uc001nxf.4	+	3	538	c.470G>A	c.(469-471)aGa>aAa	p.R157K		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 3 (RARRES3), mRNA.	157					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GCGATTAGGAGATACCAAAAA	0.532000														152			59		0	0	1	0	0
LOC643733	643733	broad.mit.edu	37	11	104774135	104774135	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:104774135C>T	uc021qpn.1	-	3		c.491G>A			LOC643733_uc021qpo.1_Non-coding_Transcript|LOC643733_uc001phz.3_Non-coding_Transcript					Homo sapiens caspase 4, apoptosis-related cysteine peptidase pseudogene (LOC643733), transcript variant 1, non-coding RNA.																		ATCACACTTTCATTTATTTCA	0.388000														23			8		0	0	1	0	0
FAM133A	286499	broad.mit.edu	37	X	92964696	92964696	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:92964696G>A	uc022bzw.1	+	2	715	c.278G>A	c.(277-279)aGa>aAa	p.R93K	FAM133A_uc022bzu.1_Missense_Mutation_p.R93K|FAM133A_uc004efr.2_Missense_Mutation_p.R93K|FAM133A_uc022bzv.1_Missense_Mutation_p.R93K|FAM133A_uc022bzx.1_Missense_Mutation_p.R93K	NM_001171111	NP_775969	Q8N9E0	F133A_HUMAN	Homo sapiens family with sequence similarity 133, member A (FAM133A), transcript variant 4, mRNA.	93	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						aaaagagaaagaaagaaaaag	0.318000														9			11		0	0	1	0	0
FATE1	89885	broad.mit.edu	37	X	150891136	150891136	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:150891136G>A	uc004fex.3	+	4	541	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.	153						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CGCCCTGGAGGAACAGGGCGC	0.642000														23			38		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433101	140433101	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140433101A>G	uc003lik.1	+	0	2123	c.2046A>G	c.(2044-2046)agA>agG	p.R682R		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	682					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCATTCTAGAAAGGTAAATC	0.438000														195			59		0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158617438	158617438	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:158617438G>T	uc002tzn.3	-	8	1648	c.1218C>A	c.(1216-1218)gcC>gcA	p.A406A	ACVR1_uc002tzm.3_Silent_p.A406A|ACVR1_uc010fog.2_Silent_p.A406A	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN	Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	406	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	ATP binding|SMAD binding|activin binding|follistatin binding|metal ion binding|protein homodimerization activity|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CAAGTCCAAAGGCCCAAATAT	0.458000														75			5		1.024e-07	1.02671e-07	1	1	0
CYLC1	1538	broad.mit.edu	37	X	83129493	83129493	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:83129493G>A	uc004eei.1	+	3	1798	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	CYLC1_uc004eeh.1_Missense_Mutation_p.E592K	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	593					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGAAAAAGGGGAAAAAGCAAG	0.423000														21			26		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9100123	9100123	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:9100123C>T	uc001apo.3	-	6	989	c.697_splice	c.e6+1	p.A233_splice	SLC2A5_uc010nzy.2_Splice_Site_p.A174_splice|SLC2A5_uc010nzz.2_Splice_Site_p.A118_splice|SLC2A5_uc010oaa.2_Splice_Site_p.A189_splice	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	233					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTCGTTACCTTTCTTGGCG	0.687000														26			8		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874910	80874910	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:80874910C>T	uc010ysh.2	+	17	2780	c.2775C>T	c.(2773-2775)ttC>ttT	p.F925F	CTNNA2_uc010yse.2_Silent_p.F877F|CTNNA2_uc010ysf.2_Silent_p.F877F|CTNNA2_uc010ysg.2_Silent_p.F832F|CTNNA2_uc010ysi.2_Silent_p.F509F|CTNNA2_uc010ysj.2_Silent_p.F206F	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	925					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTGAAGAATTCCAGACACGAG	0.458000														189			49		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171264339	171264339	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:171264339C>T	uc002ufy.3	+	21	2778	c.2635C>T	c.(2635-2637)Cct>Tct	p.P879S	MYO3B_uc002ufv.3_Missense_Mutation_p.P866S|MYO3B_uc010fqb.1_Missense_Mutation_p.P879S|MYO3B_uc002ufz.3_Missense_Mutation_p.P879S|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	879	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTTCTCAATCCCTCTGACCAA	0.463000														148			57		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166961934	166961934	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:166961934G>A	uc001gdy.1	+	3	408	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	MAEL_uc021peh.1_Missense_Mutation_p.G57S|MAEL_uc001gdz.1_Missense_Mutation_p.G82S|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	113					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TCTCCTTGGAGGCATTTTTTA	0.353000														47			21		0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51100335	51100335	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51100335C>T	uc001rwv.3	+	20	2577	c.2421C>T	c.(2419-2421)ttC>ttT	p.F807F	DIP2B_uc009zlt.3_Silent_p.F237F	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	807						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GTTTGGTGTTCGTGGTTGGGA	0.363000														95			38		0	0	1	0	0
ANKRD20A3	441425	broad.mit.edu	37	9	67938622	67938622	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:67938622G>A	uc004aeu.3	+	5	869	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	ANKRD20A3_uc010mnn.3_Missense_Mutation_p.E253K	NM_001012419	NP_115626	Q5VUR7	A20A3_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A3 (ANKRD20A3), mRNA.	253																	ACAAATTTTGGAACATAAAAA	0.244000														27			5		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50857597	50857597	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50857597G>A	uc001jhz.2	+	9	1579	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	CHAT_uc001jhv.1_Missense_Mutation_p.E358K|CHAT_uc001jhx.1_Missense_Mutation_p.E358K|CHAT_uc001jhy.1_Missense_Mutation_p.E358K|CHAT_uc001jia.2_Missense_Mutation_p.E394K|CHAT_uc010qgs.1_Missense_Mutation_p.E358K	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	476					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CTCCGTCAGCGAGCTCCCCGC	0.617000														68			16		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54792313	54792313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:54792313G>A	uc003pck.3	+	3	733	c.617G>A	c.(616-618)cGa>cAa	p.R206Q		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	206								p.R206*(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TAGAATATTCGAGTGCGAACA	0.303000														86			16		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110819517	110819517	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:110819517G>A	uc001vqw.4	-	43	4059	c.3937C>T	c.(3937-3939)Cca>Tca	p.P1313S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1313	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGAAATCCTGGAACTCCTGGA	0.527000														160			54		0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10689791	10689791	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:10689791G>A	uc002kos.2	-	44	7194	c.7020C>T	c.(7018-7020)ctC>ctT	p.L2340L	PIEZO2_uc002koq.3_Silent_p.L195L	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2340						integral to membrane	ion channel activity										AAAAGGGCACGAGGCGAAACC	0.562000														53			16		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814675	106814675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:106814675G>A	uc003ymd.3	+	7	2388	c.2365G>A	c.(2365-2367)Gat>Aat	p.D789N	ZFPM2_uc011lhs.2_Missense_Mutation_p.D520N	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	789					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCAAGATGTGATATCTTTCC	0.438000														26			12		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125109512	125109512	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:125109512G>A	uc003yqw.3	+	36	4902	c.4696_splice	c.e36-1	p.G1566_splice	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1566						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTTAACAAGGGCCGCCTGCA	0.453000														113			10		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74003240	74003240	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74003240C>T	uc010wss.1	-	21	6340	c.6112G>A	c.(6112-6114)Gag>Aag	p.E2038K	EVPL_uc002jqi.2_Missense_Mutation_p.E2016K|EVPL_uc010wst.1_Missense_Mutation_p.E1486K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	2016					keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGGTACCCCTCCAGTGCCGCT	0.692000														49			26		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141597566	141597566	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141597566G>A	uc002tvj.1	-	30	6175	c.5203C>T	c.(5203-5205)Cca>Tca	p.P1735S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1735					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTACCAACTGGCTCCTTCTGA	0.328000										TSP Lung(27;0.18)				28			6		0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53421577	53421577	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53421577C>T	uc001sbh.4	+	6	885	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	EIF4B_uc009zmp.1_Non-coding_Transcript|EIF4B_uc010snu.2_Missense_Mutation_p.R227C|EIF4B_uc010snv.2_Missense_Mutation_p.R188C	NM_001417	NP_001408	P23588	IF4B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.	227	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	p.R227C(2)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GTATCGAGATCGTTATGATTC	0.483000														133			22		0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130319437	130319437	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:130319437C>T	uc010scd.2	+	0	569	c.569C>T	c.(568-570)cCt>cTt	p.P190L		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	190					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P190S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCCCTGGACCCTTACAAGCCG	0.726000														5			5		0	0	1	0	0
WFDC8	90199	broad.mit.edu	37	20	44184463	44184463	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44184463C>T	uc002xow.3	-	3	401	c.322G>A	c.(322-324)Gca>Aca	p.A108T	WFDC8_uc002xox.3_Missense_Mutation_p.A108T	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	108	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CAGCGCTGTGCCTCATGATTA	0.463000														76			26		0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145642042	145642042	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145642042C>T	uc003zcq.3	-	0	232	c.132G>A	c.(130-132)ctG>ctA	p.L44L	SLC39A4_uc003zco.3_5'Flank|SLC39A4_uc003zcp.3_5'Flank	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	44						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			ACAGGCCGCCCAGAGCCTCTT	0.677000														17			5		0	0	1	0	0
PYROXD1	79912	broad.mit.edu	37	12	21614955	21614955	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21614955C>T	uc001rew.3	+	8	1021	c.894C>T	c.(892-894)gtC>gtT	p.V298V	PYROXD1_uc009ziq.3_Silent_p.V39V	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 1 (PYROXD1), mRNA.	298							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						TGTGGCCTGTCTATGTGGAAT	0.368000														48			27		0	0	1	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202446936	202446936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:202446936G>A	uc002uyf.3	-	4	573	c.521C>T	c.(520-522)cCc>cTc	p.P174L	ALS2CR11_uc002uye.3_Missense_Mutation_p.P174L|ALS2CR11_uc010fti.3_Missense_Mutation_p.P174L|ALS2CR11_uc021vvc.1_Missense_Mutation_p.P174L	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	174										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						ATAACGTCTGGGAACCTCAAT	0.289000														78			24		0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55069580	55069580	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55069580C>T	uc001cxm.2	+	10	1298	c.1122C>T	c.(1120-1122)ccC>ccT	p.P374P	ACOT11_uc001cxj.2_Silent_p.P252P|ACOT11_uc001cxl.2_Silent_p.P374P	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	374					fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CAGAGGTGCCCCTCTCCGTCC	0.577000														76			33		0	0	1	0	0
TMEM133	83935	broad.mit.edu	37	11	100863262	100863262	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:100863262C>T	uc001pgf.3	+	0	452	c.223C>T	c.(223-225)Cct>Tct	p.P75S		NM_032021	NP_114410	Q9H2Q1	TM133_HUMAN	Homo sapiens transmembrane protein 133 (TMEM133), mRNA.	75						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		CATTCTGTGTCCTGCCTGTCT	0.378000														186			41		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111239	7111239	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7111239G>A	uc001mfc.2	+	0	1075	c.888G>A	c.(886-888)cgG>cgA	p.R296R		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	296	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding	p.G295G(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCCCAGGACGGGGGACACCGC	0.662000														29			13		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54914569	54914569	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54914569G>A	uc021smr.1	+	28	6145	c.6145G>A	c.(6145-6147)Gac>Aac	p.D2049N	UNC13C_uc021sms.1_Missense_Mutation_p.D2051N|UNC13C_uc002acm.3_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2051	C2 2.				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)		TGTTCATGTGGACATCACTGC	0.443000														65			32		0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778336	31778337	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31778336_31778337CC>TT	uc003nxh.3	-	1	1596_1597	c.1413_1414GG>AA	c.(1411-1416)agggga>agAAga	p.G472R	HSPA1L_uc010jte.3_Missense_Mutation_p.G472R|HSPA1L_uc021yuz.1_Missense_Mutation_p.G472R	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	472					response to unfolded protein		ATP binding	p.R471R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGAGGAACTCCCCTGGGTGCTG	0.554000														103			44		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230456299	230456299	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:230456299C>T	uc002vpv.3	-	1	729	c.582G>A	c.(580-582)gtG>gtA	p.V194V		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	194					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TTCTCACCTCCACTTGATCCC	0.428000														38			14		0	0	1	0	0
PPT1	5538	broad.mit.edu	37	1	40555169	40555170	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:40555169_40555170GG>AA	uc001cfb.2	-	4	680_681	c.448_449CC>TT	c.(448-450)cct>TTt	p.P150F	PPT1_uc010ojf.1_Missense_Mutation_p.P100F|PPT1_uc010ojg.1_Missense_Mutation_p.P47F|PPT1_uc009vwa.2_Non-coding_Transcript	NM_000310	NP_000301	P50897	PPT1_HUMAN	Homo sapiens palmitoyl-protein thioesterase 1 (PPT1), transcript variant 1, mRNA.	150					DNA fragmentation involved in apoptotic nuclear change|brain development|cofactor metabolic process|cofactor transport|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	Golgi apparatus|axon|cytosol|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity	p.P150H(2)		endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGGCATCGAGGGAGTCCAAAA	0.441000														68			18		0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104184165	104184165	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104184165C>T	uc004bbk.2	-	8	1103	c.1021G>A	c.(1021-1023)Gga>Aga	p.G341R		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	341					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ACATACTGTCCTTTGGCCGCC	0.542000														52			8		0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82644813	82644813	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:82644813C>T	uc001ozt.3	+	5	2677	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F	C11orf82_uc010rsr.2_Silent_p.F510F|C11orf82_uc010rss.2_Silent_p.F510F|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	811					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TAAGGATTTTCCCTGAAAATG	0.368000														32			14		0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	50097645	50097645	+	Missense_Mutation	SNP	C	T	T	rs148913753		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:50097645C>T	uc003tou.3	-	3	497	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	ZPBP_uc010kyw.3_Missense_Mutation_p.E142K	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	143					binding of sperm to zona pellucida	extracellular region		p.L142L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GGTTTATATTCGAGGAAACAT	0.328000														63			19		0	0	1	0	0
TPSB2	64499	broad.mit.edu	37	16	1279235	1279235	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1279235C>T	uc002cky.3	-	4	478	c.455G>A	c.(454-456)gGg>gAg	p.G152E	TPSB2_uc010brk.1_Non-coding_Transcript|TPSB2_uc002ckx.3_5'UTR	NM_024164	NP_077078	P20231	TRYB2_HUMAN	Homo sapiens tryptase beta 2 (gene/pseudogene) (TPSB2), mRNA.	152	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				GCACGGCATCCCCGGGGGGGA	0.682000														9			6		0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52476875	52476875	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52476875G>A	uc003dea.1	-	1	164	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	55	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity	p.S55C(2)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GAGGTTCAGGGAGCCCTGGGG	0.622000														9			5		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107430068	107430068	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107430068G>A	uc003ver.2	-	5	847	c.636C>T	c.(634-636)ggC>ggT	p.G212G	SLC26A3_uc003ves.2_Silent_p.G177G	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	212					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CAGTAGTGAAGCCACTGATGA	0.423000														37			7		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	17990868	17990868	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17990868G>A	uc010gqw.1	+	6	768	c.768G>A	c.(766-768)aaG>aaA	p.K256K	CECR2_uc010gqv.1_Silent_p.K135K|CECR2_uc002zml.2_Silent_p.K135K|CECR2_uc002zmm.1_Intron	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	298					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGCGCACAAAGGCAGAGTTGC	0.493000														174			14		0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29782870	29782870	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29782870G>A	uc002kxj.4	+	5	312	c.265G>A	c.(265-267)Gga>Aga	p.G89R		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	89	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GAATGCTAAGGGAGTTATCCT	0.363000														19			5		0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479590	4479590	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4479590C>T	uc001qmq.1	-	2	821	c.675G>A	c.(673-675)ggG>ggA	p.G225G		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	225					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CCCTGACCACCCCTAATGGGT	0.697000														43			14		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118574371	118574371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:118574371C>T	uc001ehk.2	-	24	3621	c.3553G>A	c.(3553-3555)Gaa>Aaa	p.E1185K		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1185						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTGGGTTTTTCTTTGCCTTTT	0.383000														126			29		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55782888	55782888	+	Missense_Mutation	SNP	G	A	A	rs34553661		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	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)				47			18		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995378	140995378	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140995378C>T	uc004fbt.3	+	3	2512	c.2188C>T	c.(2188-2190)Cct>Tct	p.P730S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P389S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	730							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)					TCCTCAGTTTCCTCCTCAGGG	0.547000										HNSCC(15;0.026)				71			65		0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66136562	66136562	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66136562G>A	uc001oht.3	-	3	613	c.384C>T	c.(382-384)tcC>tcT	p.S128S	SLC29A2_uc009yrf.3_Silent_p.S8S|SLC29A2_uc001ohu.3_Silent_p.S128S|SLC29A2_uc001ohv.3_Silent_p.S128S|AX747485_uc001ohw.1_Non-coding_Transcript	NM_001532	NP_001523	Q14542	S29A2_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 2 (SLC29A2), mRNA.	128					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						CCATGGTGATGGAGAAGAAGG	0.607000														5			3		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	157999191	157999191	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:157999191G>A	uc003ipj.2	+	1	217	c.15G>A	c.(13-15)ttG>ttA	p.L5L	GLRB_uc021xtp.1_Silent_p.L5L|GLRB_uc021xtq.1_Silent_p.L5L	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	5					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	AGTTTTTATTGACAACTGCCT	0.313000														43			7		0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134158754	134158754	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:134158754G>A	uc009zdf.3	+	6	1059	c.699G>A	c.(697-699)aaG>aaA	p.K233K	GLB1L3_uc010scs.2_Silent_p.K233K|GLB1L3_uc010sct.2_Silent_p.K85K	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	233					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CATTCAATAAGGATAAAACAT	0.498000														24			3		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149878254	149878254	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:149878254C>T	uc001etg.3	-	10	2324	c.1833G>A	c.(1831-1833)ggG>ggA	p.G611G	SV2A_uc009wlk.3_Silent_p.G63G|SV2A_uc001eth.2_Silent_p.G611G	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	611				G -> R (in Ref. 3; BAC11645).	neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ACACGATATTCCCAGGAAGCA	0.577000														75			17		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539929	94539929	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94539929G>A	uc003unp.3	+	1	786	c.504G>A	c.(502-504)ggG>ggA	p.G168G	PPP1R9A_uc010lfj.3_Silent_p.G168G|PPP1R9A_uc011kif.2_Silent_p.G168G|PPP1R9A_uc003unq.3_Silent_p.G168G|PPP1R9A_uc011kig.2_Silent_p.G168G	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	168						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)			AAGCTGGAGGGAGTGAACCTC	0.493000										HNSCC(28;0.073)				55			35		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10420095	10420095	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10420095C>T	uc003bvt.3	-	10	1482	c.1043_splice	c.e10-1	p.A348_splice	ATP2B2_uc003bvv.3_Splice_Site_p.A303_splice|ATP2B2_uc003bvw.3_Splice_Site_p.A303_splice|ATP2B2_uc010hdo.3_Splice_Site_p.A53_splice	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	348					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGTTGTTTGGCTGCAGGGGGC	0.632000														65			25		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89391132	89391132	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:89391132C>T	uc003dqy.3	+	4	1423	c.1198C>T	c.(1198-1200)Ctg>Ttg	p.L400L	EPHA3_uc003dqx.1_Silent_p.L400L|EPHA3_uc021xbf.1_Silent_p.L400L	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	400	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GACAGACCTTCTGGCACATAC	0.507000										TSP Lung(6;0.00050)				54			26		0	0	1	0	0
C16orf71	146562	broad.mit.edu	37	16	4787833	4787833	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:4787833C>T	uc002cxn.3	+	2	624	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	54										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGTTCATCTTCCAGCGAAACC	0.597000														66			27		0	0	1	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38413338	38413338	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:38413338G>A	uc004aba.3	-	2	606	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_001007563	NP_001007564	Q8WX77	IBPL1_HUMAN	Homo sapiens insulin-like growth factor binding protein-like 1 (IGFBPL1), mRNA.	195	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		GTGCCCTCAGGGGACTTCGTG	0.577000														56			12		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128845	6128845	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6128845G>A	uc001qnn.1	-	27	3989	c.3739C>T	c.(3739-3741)Ccc>Tcc	p.P1247S	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1247					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCATCTGTGGGAGGCACCACC	0.567000														24			13		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39039051	39039051	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39039051C>T	uc002oit.3	+	88	12403	c.12273C>T	c.(12271-12273)gaC>gaT	p.D4091D	RYR1_uc002oiu.3_Silent_p.D4086D|RYR1_uc002oiv.1_Silent_p.D1000D	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4091					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCAAGAAGGACTTCCAGAAGG	0.572000														69			40		0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4855892	4855892	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:4855892C>T	uc003snj.1	-	7	2106	c.1933G>A	c.(1933-1935)Ggg>Agg	p.G645R	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_Missense_Mutation_p.G150R|RADIL_uc011jwc.1_Missense_Mutation_p.G405R|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	645	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGCAGTGTCCCGGAGAAGAAG	0.657000														39			9		0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14722227	14722227	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14722227G>A	uc003zlj.3	-	0	489	c.444C>T	c.(442-444)gtC>gtT	p.V148V		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	148					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TGGGCAAGATGACCCCCTGAG	0.493000														79			9		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356895	42356895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:42356895C>T	uc001wvm.3	+	2	2265	c.1067C>T	c.(1066-1068)aCc>aTc	p.T356I	LRFN5_uc010ana.3_Missense_Mutation_p.T356I	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	356	Ig-like.					integral to membrane		p.F355L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGTGCTTTTACCTGCATTGCT	0.393000										HNSCC(30;0.082)				91			43		0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88478074	88478074	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:88478074G>A	uc021rxh.1	+	0	883	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	GPR65_uc001xvv.3_Missense_Mutation_p.E295K	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	295					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTTTGTAACCGAAACAGGAAG	0.353000														55			10		0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95847290	95847290	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:95847290C>T	uc002suf.3	+	4	1179	c.717C>T	c.(715-717)ttC>ttT	p.F239F	ZNF2_uc002sug.3_Silent_p.F197F|ZNF2_uc010yue.2_Silent_p.F201F|ZNF2_uc010fhs.3_Silent_p.F159F	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CAAAAGCCTTCTTTGACCGTT	0.522000														131			16		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66914311	66914311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:66914311C>T	uc002jhq.3	-	15	2264	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	ABCA8_uc002jhp.3_Missense_Mutation_p.E602K|ABCA8_uc010wqq.2_Missense_Mutation_p.E642K|ABCA8_uc010wqr.2_Missense_Mutation_p.E581K|ABCA8_uc002jhr.3_Missense_Mutation_p.E642K	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	602	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A642V(1)|p.A642A(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCAGTTGGTTCATCCAACAGG	0.403000														60			9		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527037	23527037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:23527037G>A	uc003jgo.3	+	10	2022	c.1840G>A	c.(1840-1842)Ggg>Agg	p.G614R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	614					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.G614W(2)		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						CAGGGAGTGTGGGCGGGGCTT	0.622000										HNSCC(3;0.000094)				73			12		0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	160025566	160025566	+	Missense_Mutation	SNP	G	A	A	rs140972476		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:160025566G>A	uc021xgr.1	-	8	1007	c.961C>T	c.(961-963)Cgt>Tgt	p.R321C	IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Missense_Mutation_p.R184C|IFT80_uc021xgq.1_Missense_Mutation_p.R319C|IFT80_uc003fde.2_Missense_Mutation_p.R184C|IFT80_uc003fdd.2_Missense_Mutation_p.R4C	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	321						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGAACATTACGAACCTAAACA	0.289000														30			8		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110477348	110477348	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:110477348G>A	uc001pkz.1	-	9	1186	c.901C>T	c.(901-903)Cga>Tga	p.R301*	ARHGAP20_uc001pky.1_Nonsense_Mutation_p.R278*|ARHGAP20_uc009yyb.1_Nonsense_Mutation_p.R265*|ARHGAP20_uc001pla.1_Nonsense_Mutation_p.R265*	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	301					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGCATCTCTCGGGGGAGCTGT	0.542000														200			94		0	0	1	0	0
H2BFM	286436	broad.mit.edu	37	X	103294884	103294884	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:103294884C>T	uc004els.2	+	0	369	c.341C>T	c.(340-342)tCc>tTc	p.S114F		NM_001164416	NP_001157888			Homo sapiens H2B histone family, member M (H2BFM), mRNA.											endometrium(1)|lung(1)|ovary(1)	3						ACCATCACCTCCCGGGACATC	0.617000														5			5		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519885	69519885	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69519885G>A	uc021xow.1	-	4	1341	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	395					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GCAAACAAGGGAATGCCCACC	0.463000														254			27		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10083645	10083645	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10083645G>A	uc002mmq.1	-	50	3810	c.3724C>T	c.(3724-3726)Ccc>Tcc	p.P1242S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1242	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)			TTGCCTGGGGGTCCAGCAGCT	0.612000														25			5		0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11289038	11289038	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11289038G>A	uc002mqm.3	-	3	1606	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	KANK2_uc021upe.1_Silent_p.F501F|KANK2_uc002mqo.4_Silent_p.F501F|KANK2_uc002mqp.1_Silent_p.F310F	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	501										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGACCCCCACGAACTGGAGGC	0.647000														16			13		0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060402	144060402	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:144060402G>A	uc003wel.3	+	1	758	c.640G>A	c.(640-642)Gag>Aag	p.E214K	ARHGEF5_uc003wek.3_Missense_Mutation_p.E214K	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	214					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCCACCTGAGGAGCTGCAGGA	0.557000														218			46		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824431	74824431	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:74824431C>T	uc021rwl.1	+	0	945	c.945C>T	c.(943-945)tcC>tcT	p.S315S	VRTN_uc001xpw.4_Silent_p.S315S	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	315					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						CCCGCTTCTCCGCCAAGCACT	0.632000														75			25		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23803392	23803392	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:23803392C>T	uc003gqs.3	-	11	2374	c.2254G>A	c.(2254-2256)Gga>Aga	p.G752R	PPARGC1A_uc003gqt.3_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	752	RRM.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGCTTGCGTCCACAAAAGTAC	0.398000														49			8		0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162270444	162270444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:162270444G>A	uc001gbv.2	+	3	679	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	NOS1AP_uc010pkr.1_Missense_Mutation_p.E93K|NOS1AP_uc001gbw.2_Missense_Mutation_p.E93K|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	98	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GCAGAAAAAGGAATGGACGTG	0.478000														97			32		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143049029	143049029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143049029G>A	uc003wcr.1	+	22	3025	c.2938G>A	c.(2938-2940)Gag>Aag	p.E980K	CLCN1_uc011ktc.1_Missense_Mutation_p.E592K	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	980					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATCCACAGACGAGGAGGATGA	0.622000														96			27		0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31091248	31091248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31091248C>T	uc003aiy.1	+	0	456	c.352C>T	c.(352-354)Ccc>Tcc	p.P118S	OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Missense_Mutation_p.P118S|OSBP2_uc011alb.1_Missense_Mutation_p.P118S|OSBP2_uc003aiz.1_Missense_Mutation_p.P118S	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	118					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGGGGCTGGGCCCTTCACTAA	0.687000														49			27		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70938397	70938397	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70938397C>T	uc001swb.4	-	19	4810	c.4780G>A	c.(4780-4782)Gaa>Aaa	p.E1594K	PTPRB_uc010sto.2_Missense_Mutation_p.E1504K|PTPRB_uc010stp.2_Missense_Mutation_p.E1504K|PTPRB_uc001swc.4_Missense_Mutation_p.E1812K|PTPRB_uc001swa.4_Missense_Mutation_p.E1724K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1594					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTTGTGAATTCCTTCAGGTCC	0.363000														46			12		0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17446091	17446091	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:17446091C>T	uc002wpm.3	+	10	1677	c.1323C>T	c.(1321-1323)ctC>ctT	p.L441L	PCSK2_uc002wpl.3_Silent_p.L422L|PCSK2_uc010zrm.2_Silent_p.L406L|PCSK2_uc002wpn.3_Silent_p.L95L	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	441					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTAATCACCTCTTTGGCTACG	0.557000														40			16		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50235567	50235567	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:50235567C>T	uc002xwg.1	-	19	2131	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K	ATP9A_uc010gih.1_Missense_Mutation_p.E575K|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	711					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGGTGAGCCTCCCCGCGGTTG	0.592000														36			13		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149481113	149481113	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149481113G>A	uc010lpk.3	+	17	2595	c.2595G>A	c.(2593-2595)ggG>ggA	p.G865G	SSPO_uc010lpl.1_Silent_p.G200G	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	865	TIL 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTCCTCTGGGGCTGCTGTGGG	0.642000														16			6		0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20149272	20149272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:20149272C>T	uc002gwq.3	+	7	2495	c.2385C>T	c.(2383-2385)gtC>gtT	p.V795V	SPECC1_uc002gws.3_Silent_p.V795V|SPECC1_uc002gwv.3_Silent_p.V714V|SPECC1_uc010vzf.2_Silent_p.V135V	NM_001243439	NP_001230368	Q5M775	CYTSB_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA.	795						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CCTCTGAGGTCGATGCTGCTG	0.502000														38			22		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108076871	108076871	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108076871C>T	uc003dwz.3	+	5	1280	c.866C>T	c.(865-867)tCa>tTa	p.S289L	HHLA2_uc011bhl.2_Missense_Mutation_p.S225L|HHLA2_uc010hpu.3_Missense_Mutation_p.S289L|HHLA2_uc003dwy.4_Missense_Mutation_p.S289L	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	289	Ig-like V-type 2.					integral to membrane		p.F288L(1)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCCCGATTCTCATGGAACAAA	0.373000														166			44		0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172479429	172479429	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:172479429G>A	uc003fii.2	+	6	759	c.621G>A	c.(619-621)atG>atA	p.M207I	ECT2_uc010hwv.1_Missense_Mutation_p.M238I|ECT2_uc003fih.2_Missense_Mutation_p.M206I|ECT2_uc003fij.1_Missense_Mutation_p.M207I|ECT2_uc003fik.1_Missense_Mutation_p.M207I|ECT2_uc003fil.1_Missense_Mutation_p.M238I	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	207	BRCT 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CTCCAATTATGAAGCCAGAAT	0.323000														93			38		0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36348040	36348040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36348040C>T	uc002ocb.4	+	0	231	c.19C>T	c.(19-21)Ccc>Tcc	p.P7S	KIRREL2_uc002obz.4_Missense_Mutation_p.P7S|KIRREL2_uc002oca.4_Missense_Mutation_p.P7S|KIRREL2_uc002ocd.4_Missense_Mutation_p.P4S	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	7					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GATGCGGGTCCCCGCCCTCCT	0.632000														47			20		0	0	1	0	0
RASSF4	83937	broad.mit.edu	37	10	45479473	45479473	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:45479473G>A	uc001jbp.3	+	3	1927	c.378G>A	c.(376-378)aaG>aaA	p.K126K	RASSF4_uc001jbo.3_Silent_p.K95K|RASSF4_uc009xmn.3_Silent_p.K25K|RASSF4_uc001jbq.3_Intron|RASSF4_uc001jbt.3_Silent_p.K52K			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	95					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTTTCAGAAAGGAGCCATCGC	0.602000														7			3		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72346877	72346877	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:72346877C>T	uc002llw.2	+	0	3955	c.3902C>T	c.(3901-3903)cCc>cTc	p.P1301L	ZNF407_uc010xfc.2_Missense_Mutation_p.P1301L|ZNF407_uc010dqu.2_Missense_Mutation_p.P1301L|ZNF407_uc002llu.2_Missense_Mutation_p.P1300L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAAGAAGATCCCGTTCTGGGG	0.448000														32			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140174612	140174612	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140174612C>T	uc003lhd.2	+	0	169	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.L21L|PCDHAC2_uc011czy.2_Silent_p.L21L	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	34					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)			TTCTGCTCCTCGCAGCCTGGG	0.622000														74			28		0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70713498	70713498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:70713498G>A	uc003heo.3	-	5	622	c.509C>T	c.(508-510)tCc>tTc	p.S170F		NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	170					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TTTATACCAGGAACCATAAGG	0.368000														83			25		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21489199	21489199	+	Silent	SNP	C	T	T	rs142459106		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:21489199C>T	uc002kuq.3	+	54	7184	c.7098C>T	c.(7096-7098)atC>atT	p.I2366I	LAMA3_uc002kur.3_Silent_p.I2310I|LAMA3_uc002kus.4_Silent_p.I757I|LAMA3_uc002kut.4_Silent_p.I701I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2366	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGGAAACATCTCTGACAACA	0.458000														86			28		0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229738200	229738200	+	Silent	SNP	G	A	A	rs143676179		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:229738200G>A	uc001htq.3	-	3	880	c.714C>T	c.(712-714)gcC>gcT	p.A238A	TAF5L_uc001htr.3_Silent_p.A238A	NM_014409	NP_055224	O75529	TAF5L_HUMAN	Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA.	238					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				AGACCTCTAGGGCAGCCTCGT	0.552000														109			11		0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83948952	83948952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:83948952C>T	uc002fgz.3	+	4	1360	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F		NM_012213	NP_036345	O95822	DCMC_HUMAN	Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA.	447					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						ATCACCGGCTCCTGCGGCCTG	0.627000														61			26		0	0	1	0	0
SLC17A9	63910	broad.mit.edu	37	20	61588800	61588800	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61588800G>A	uc002yea.4	+	2	449	c.265G>A	c.(265-267)Ggt>Agt	p.G89S	SLC17A9_uc002ydz.4_Missense_Mutation_p.G83S|SLC17A9_uc011aap.1_Missense_Mutation_p.G109S	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	89					exocytosis|transmembrane transport	integral to membrane	transporter activity	p.G89G(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CAGGATTGGGGGTGAGAAGGT	0.642000														55			25		0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447414	24447415	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24447414_24447415GG>AA	uc001biq.2	-	6	1808_1809	c.1605_1606CC>TT	c.(1603-1608)tccctt>tcTTtt	p.L536F	IL22RA1_uc010oeg.1_Missense_Mutation_p.L468F|IL22RA1_uc009vrb.2_Missense_Mutation_p.L400F|IL22RA1_uc010oeh.2_3'UTR	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	536						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GGACACACAAGGGACTCCAGCA	0.614000														77			6		0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	7012458	7012458	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:7012458C>T	uc011bwg.2	+	10	1676	c.1597C>T	c.(1597-1599)Ctt>Ttt	p.L533F	TBC1D14_uc003gjs.4_Missense_Mutation_p.L533F|TBC1D14_uc010idh.3_Missense_Mutation_p.L253F|TBC1D14_uc011bwh.2_Missense_Mutation_p.L180F|TBC1D14_uc003gju.4_Missense_Mutation_p.L24F	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	533	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CTTTTCTAACCTTCTGAATAA	0.458000														123			47		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299276	58299276	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:58299276G>A	uc001vhq.1	+	3	4220	c.3328G>A	c.(3328-3330)Gat>Aat	p.D1110N	PCDH17_uc010aec.1_Missense_Mutation_p.D1109N|PCDH17_uc001vhr.1_Missense_Mutation_p.D199N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1110					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R1109R(1)|p.R1109W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGCCAGCCGGGATTCCAGTGA	0.517000														168			53		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53664532	53664532	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53664532C>T	uc001sck.2	+	4	1410	c.1319C>T	c.(1318-1320)gCc>gTc	p.A440V	ESPL1_uc001scj.2_Missense_Mutation_p.A115V	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	440					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATGCTGGAGGCCTTAGAGGGC	0.552000														76			33		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103352543	103352543	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:103352543C>T	uc001dum.3	-	62	5032	c.4714G>A	c.(4714-4716)Ggc>Agc	p.G1572S	COL11A1_uc001duk.3_Missense_Mutation_p.G756S|COL11A1_uc001dul.3_Missense_Mutation_p.G1560S|COL11A1_uc001dun.3_Missense_Mutation_p.G1521S|COL11A1_uc009weh.3_Missense_Mutation_p.G1444S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1560					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	p.G1572C(2)|p.G1560C(1)		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)		GCTTGCATGCCTTCAGTATGT	0.393000														127			48		0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606482	55606482	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55606482G>A	uc010rio.2	+	0	255	c.255G>A	c.(253-255)gtG>gtA	p.V85V		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGATGCTGGTGAACCTGGTTG	0.393000														240			107		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41203238	41203238	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41203238C>T	uc003jmk.2	-	1	305	c.95G>A	c.(94-96)tGg>tAg	p.W32*	C6_uc003jml.1_Nonsense_Mutation_p.W32*	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	32	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				GCAGCTGGTCCACTGAGTCCA	0.507000														244			22		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12969363	12969363	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12969363G>A	uc002mvm.3	+	11	1304	c.1176G>A	c.(1174-1176)cgG>cgA	p.R392R	MAST1_uc021upp.1_Silent_p.R216R	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	392	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACCTGGTGCGGCACCGCGACA	0.657000														57			21		0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19592859	19592859	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19592859G>A	uc002dgn.2	+	6	838	c.523G>A	c.(523-525)Gag>Aag	p.E175K	C16orf62_uc002dgo.2_Missense_Mutation_p.E264K|C16orf62_uc002dgp.2_5'UTR|C16orf62_uc010vas.2_Non-coding_Transcript|C16orf62_uc002dgm.2_Missense_Mutation_p.E264K	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	175						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTCCCAAAAGGAGCTGTTGAA	0.493000														157			39		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110826298	110826298	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:110826298C>T	uc001vqw.4	-	39	3576	c.3454G>A	c.(3454-3456)Gag>Aag	p.E1152K		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1152	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGCCTGGCTCCCCTTTCTGG	0.587000														43			15		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123987394	123987394	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:123987394G>A	uc001lfv.3	+	13	8127	c.7767G>A	c.(7765-7767)gcG>gcA	p.A2589A	TACC2_uc001lfw.3_Silent_p.A735A|TACC2_uc009xzx.3_Silent_p.A2544A|TACC2_uc010qtv.2_Silent_p.A2593A|TACC2_uc001lfx.3_Silent_p.A293A|TACC2_uc001lfy.3_Silent_p.A289A|TACC2_uc001lfz.3_Silent_p.A667A|TACC2_uc001lga.3_Silent_p.A667A|TACC2_uc009xzy.3_Silent_p.A679A|TACC2_uc001lgb.3_Silent_p.A624A	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2589						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)				ACACTGCTGCGAAAAACCAGC	0.522000														101			52		0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27081176	27081176	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:27081176C>T	uc001rhk.4	-	4	1083	c.546G>A	c.(544-546)acG>acA	p.T182T	ASUN_uc010sjk.2_Silent_p.T81T	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.	182					cell division|mitosis|regulation of mitotic cell cycle		protein binding										GTTCATGAATCGTTTCCTGGA	0.294000														84			11		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740790	110740790	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110740790C>T	uc009wfq.3	+	11	2369	c.1908C>T	c.(1906-1908)ttC>ttT	p.F636F		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	636					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTGTGGTGTTCGTCCTGCGGC	0.607000														30			12		0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46148504	46148504	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:46148504A>G	uc001jcp.4	-	2	430	c.188T>C	c.(187-189)aTt>aCt	p.I63T	ZFAND4_uc001jcm.4_Missense_Mutation_p.I63T|ZFAND4_uc009xmu.3_5'UTR|ZFAND4_uc001jcn.4_5'UTR|ZFAND4_uc001jco.4_Missense_Mutation_p.I63T|ZFAND4_uc001jcq.2_Non-coding_Transcript|ZFAND4_uc001jcr.2_Missense_Mutation_p.I63T	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	63	Ubiquitin-like.						zinc ion binding										ACAGATGGGAATACCTTAAGG	0.303000														71			22		0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15567435	15567435	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15567435G>A	uc002nbe.2	-	9	1540	c.1454C>T	c.(1453-1455)aCt>aTt	p.T485I	RASAL3_uc002nbd.3_5'Flank	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	485	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CAGCTCCGCAGTGCCCAGGTC	0.607000														17			7		0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44289073	44289073	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:44289073G>A	uc001myb.3	-	2	981	c.877C>T	c.(877-879)Ctc>Ttc	p.L293F		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	Homo sapiens ALX homeobox 4 (ALX4), mRNA.	293					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CGGGTGAGGAGGGGCAGCTCA	0.622000														18			20		0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187086556	187086556	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187086556C>T	uc003iyt.4	+	10	1681	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	FAM149A_uc011cla.1_Missense_Mutation_p.P368S|FAM149A_uc010isl.3_Missense_Mutation_p.P368S|FAM149A_uc011clb.2_Missense_Mutation_p.P368S	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	659										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GAGCAGGTTCCCCCCGCTAGT	0.537000														60			19		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189923576	189923576	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189923576C>T	uc002uqk.3	-	32	2405	c.2130_splice	c.e32+1	p.R710_splice	COL5A2_uc010frx.3_Splice_Site_p.R286_splice	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	710					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.R710I(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AATACTTACTCTAGGTCCTAA	0.343000														35			10		0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42263150	42263150	+	Missense_Mutation	SNP	C	T	T	rs150623766		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:42263150C>T	uc003bbi.3	+	1	573	c.404C>T	c.(403-405)cCc>cTc	p.P135L	bK250D10.C22.8_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	135	Gln-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						cagccccgcccccagccccag	0.597000														71			38		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152083782	152083782	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152083782C>T	uc009wne.1	-	2	2183	c.1911G>A	c.(1909-1911)gaG>gaA	p.E637E	TCHH_uc001ezp.2_Silent_p.E637E	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	637	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTGCTCCTCGCTCTTCA	0.677000														142			20		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106692191	106692191	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106692191C>T	uc021ser.1	-	1154		c.24895G>A								Parts of antibodies, mostly variable regions.																		GCTAAGGCTCCTCTCTCAGAG	0.527000														71			23		0	0	1	0	0
CXCR7	57007	broad.mit.edu	37	2	237489255	237489255	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:237489255C>T	uc021vys.1	+	0	147	c.147C>T	c.(145-147)ttC>ttT	p.F49F	CXCR7_uc010fyq.3_Silent_p.F49F|CXCR7_uc002vwd.3_Silent_p.F49F	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	49					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		CGCTCTCCTTCATTTACATTT	0.527000														20			8		0	0	1	0	0
RANBP10	57610	broad.mit.edu	37	16	67763633	67763634	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67763633_67763634GG>AA	uc002eud.3	-	8	1212_1213	c.1096_1097CC>TT	c.(1096-1098)ccc>TTc	p.P366F	RANBP10_uc010ceo.3_Missense_Mutation_p.P137F|RANBP10_uc010vju.2_Missense_Mutation_p.P310F|RANBP10_uc010vjv.2_Missense_Mutation_p.P249F|RANBP10_uc010vjw.1_Missense_Mutation_p.P27F	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	366	Ser-rich.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ACTGAGGCTGGGGGAGCCAGGG	0.609000														71			22		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56459573	56459573	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56459573C>T	uc002qmh.3	+	0	376	c.305C>T	c.(304-306)tCg>tTg	p.S102L	NLRP8_uc010etg.3_Missense_Mutation_p.S102L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	102	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GATGTGACTTCGAACATCTTT	0.507000														41			23		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88583873	88583873	+	Missense_Mutation	SNP	G	A	A	rs149603030		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:88583873G>A	uc003hqv.3	+	5	1047	c.943G>A	c.(943-945)Ggt>Agt	p.G315S	DMP1_uc003hqw.3_Missense_Mutation_p.G299S	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	315					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.G315S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AGACAGCAAGGGTGACTCTCA	0.512000														80			6		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15600105	15600105	+	Missense_Mutation	SNP	C	T	T	rs138187704		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15600105C>T	uc001ioc.1	-	25	2734	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	ITGA8_uc010qcb.1_Missense_Mutation_p.E897K	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	912					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTGTGGAATTCGACCACATGT	0.498000														101			33		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34506728	34506728	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:34506728C>T	uc003zum.3	+	12	1360	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	389					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCATGTGTCTCGACATCCACG	0.577000									Kartagener syndrome					47			27		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072407	9072407	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9072407C>T	uc002mkp.3	-	2	15243	c.15039G>A	c.(15037-15039)ttG>ttA	p.L5013L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5015	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						TGGTCACATCCAATTGTGAAA	0.483000														58			21		0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919003	21919003	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21919003C>T	uc001rff.3	-	2	1267	c.929G>A	c.(928-930)cGa>cAa	p.R310Q		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	310						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)	GTAGGAGGTTCGTGCTTGTGT	0.483000														76			21		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5282896	5282896	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:5282896G>A	uc010zqw.2	-	1	953	c.945C>T	c.(943-945)ttC>ttT	p.F315F	PROKR2_uc010zqx.2_Silent_p.F315F|PROKR2_uc010zqy.2_Silent_p.F315F	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	315						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CGACCACGTAGAAGGCAGTGA	0.517000										HNSCC(71;0.22)				132			15		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412231	51412231	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:51412231G>A	uc001nhi.2	-	0	218	c.165C>T	c.(163-165)tcC>tcT	p.S55S		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	55				GSP -> CSA (in Ref. 1; BAC05754).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AATACATTGGGGAACCCAAGG	0.403000														55			18		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142162089	142162089	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142162089C>T	uc011krx.2	-	1	201	c.186G>A	c.(184-186)ctG>ctA	p.L62L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc022ani.1_Non-coding_Transcript|BV13S6J2.1_uc011krw.2_Silent_p.L62L					SubName: Full=BV13S6J2.1 protein; Flags: Fragment;																		AAATCAGCTTCAGCCCCATGC	0.478000														197			83		0	0	1	0	0
ACTR3C	653857	broad.mit.edu	37	7	149983537	149983537	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149983537G>A	uc003wgu.2	-	4	580	c.390C>T	c.(388-390)atC>atT	p.I130I	ACTR3C_uc022aps.1_Silent_p.I130I	NM_001164459	NP_001157931	Q9C0K3	ARP3C_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog C (yeast) (ACTR3C), transcript variant 2, mRNA.	130					regulation of actin filament polymerization	cytoskeleton	ATP binding|actin binding										TGATCGCATTGATACCCGTGT	0.413000														209			15		0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8700810	8700810	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:8700810C>T	uc002glp.2	-	0	1858	c.1629G>A	c.(1627-1629)cgG>cgA	p.R543R		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	543						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GGGGCAGCCTCCGCTGTATGG	0.602000														22			31		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75108735	75108735	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75108735C>T	uc001dgg.3	-	3	510	c.291G>A	c.(289-291)agG>agA	p.R97R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	97										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						TTCGCTCCTTCCTAGCTAAGG	0.318000														77			27		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937566	21937566	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:21937566C>T	uc010tzj.1	-	0		c.3174G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		AAATTGATTTCATATGATCCG	0.473000														122			23		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30938508	30938508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:30938508C>T	uc009yjk.1	-	13	1774	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.E228K	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	200	Doublecortin 2.				intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						TGTGAAGTTTCCTGCCAGGCA	0.418000														52			21		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871842	51871842	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:51871842G>A	uc002xwo.3	+	1	2732	c.1845G>A	c.(1843-1845)ggG>ggA	p.G615G	TSHZ2_uc021wex.1_Silent_p.G612G	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	615					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGGAGTGTGGGAAAGAAAGTC	0.507000														114			9		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124756397	124756397	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124756397G>A	uc001qbg.3	-	15	2897	c.2757C>T	c.(2755-2757)ttC>ttT	p.F919F	ROBO4_uc010sas.2_Silent_p.F774F|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.3_Silent_p.F477F	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	919					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCTCTAGACCGAAACCAAAGC	0.572000														54			29		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6087196	6087196	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:6087196C>T	uc010idb.1	-	3	1271	c.785G>A	c.(784-786)aGa>aAa	p.R262K	JAKMIP1_uc010idc.1_Missense_Mutation_p.R97K|JAKMIP1_uc010idd.1_Missense_Mutation_p.R262K|JAKMIP1_uc003giu.4_Missense_Mutation_p.R262K|JAKMIP1_uc011bwc.2_Missense_Mutation_p.R97K|JAKMIP1_uc003giv.4_Missense_Mutation_p.R262K|JAKMIP1_uc010ide.3_Missense_Mutation_p.R262K	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	262	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGGGAGCTCTCTCTTTGGACT	0.627000														62			19		0	0	1	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45695524	45695524	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45695524C>T	uc001zve.3	+	0	1006	c.897C>T	c.(895-897)ctC>ctT	p.L299L	BC039389_uc001zvd.3_5'Flank|SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	299						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GACCCAGCCTCCTCTTCCTGG	0.726000														13			5		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13735322	13735322	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13735322G>A	uc003jfd.2	-	67	11721	c.11679C>T	c.(11677-11679)ttC>ttT	p.F3893F	DNAH5_uc003jfc.2_Silent_p.F61F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3893					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)					AGGTGAACAGGAATTTGTGCT	0.433000									Kartagener syndrome					67			30		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	70992650	70992650	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:70992650C>T	uc001jpf.4	+	2	490	c.357C>T	c.(355-357)atC>atT	p.I119I	HKDC1_uc010qje.2_5'Flank	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	119					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ATGAAATCATCCGCGGGAACG	0.587000														134			39		0	0	1	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600303	3600303	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3600303G>A	uc002lyg.2	-	1	717	c.330C>T	c.(328-330)gtC>gtT	p.V110V	TBXA2R_uc021umv.1_Silent_p.V110V	NM_001060	NP_001051	P21731	TA2R_HUMAN	Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA.	110					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AGATCATGACGACGCCCATGA	0.692000														37			19		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18869133	18869133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:18869133G>A	uc003sui.3	+	17	2469	c.2428G>A	c.(2428-2430)Gac>Aac	p.D810N	HDAC9_uc003sue.3_Missense_Mutation_p.D807N|HDAC9_uc011jyd.2_Missense_Mutation_p.D807N|HDAC9_uc003suh.3_Missense_Mutation_p.D807N|HDAC9_uc003suj.3_Missense_Mutation_p.D766N|HDAC9_uc003suk.3_Missense_Mutation_p.D55N	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	807	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATACTTGAGAGACCAACTAAA	0.378000														48			26		0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184632794	184632794	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:184632794C>T	uc021xik.1	+	25	2303	c.2215C>T	c.(2215-2217)Ccc>Tcc	p.P739S	VPS8_uc003fpb.1_Missense_Mutation_p.P737S|VPS8_uc010hyd.1_Missense_Mutation_p.P647S|VPS8_uc010hye.1_Missense_Mutation_p.P166S	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	739							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TCGTGCCTATCCCCTTGGTGA	0.428000														73			22		0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64668681	64668681	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:64668681G>A	uc021qzu.1	-	11	1584	c.1584_splice	c.e11+1	p.I528_splice	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Splice_Site_p.I368_splice|C12orf56_uc001srz.3_Splice_Site_p.I10_splice|C12orf56_uc001sry.3_Splice_Site_p.I110_splice	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	531										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)		AGATACTTACGATGGGAGGAC	0.373000														61			24		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208684	23208684	+	Missense_Mutation	SNP	C	T	T	rs141248272		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23208684C>T	uc002dlm.1	+	5	1152	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	338					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity	p.P338L(2)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GATGAGTATCCCTTCGTCGAA	0.468000														56			12		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79433634	79433634	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:79433634G>A	uc001xun.3	+	9	2233	c.1742G>A	c.(1741-1743)tGg>tAg	p.W581*	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Nonsense_Mutation_p.W706*	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	173					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GACAACCAGTGGCACAATGTC	0.448000														88			7		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155646	151155646	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151155646G>A	uc011bod.2	-	5	6703	c.6703C>T	c.(6703-6705)Cca>Tca	p.P2235S	IGSF10_uc011bob.2_Missense_Mutation_p.P262S|IGSF10_uc011boc.2_Missense_Mutation_p.P214S	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2235	Ig-like C2-type 9.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGATTAATGGAGGTTTAGAG	0.433000														108			44		0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7076403	7076403	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7076403C>T	uc002mga.3	+	4	617	c.132C>T	c.(130-132)acC>acT	p.T44T	ZNF557_uc002mgb.3_Silent_p.T37T|ZNF557_uc002mgc.3_Silent_p.T44T	NM_024341	NP_077317	Q8N988	ZN557_HUMAN	Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA.	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GCTTGGTGACCTTTGAGGATG	0.582000														111			45		0	0	1	0	0
CD3D	915	broad.mit.edu	37	11	118211307	118211307	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118211307C>T	uc001pss.1	-	2	193	c.56_splice	c.e2-1	p.V19_splice	CD3D_uc001pst.1_Splice_Site_p.V19_splice|CD3D_uc021qrf.1_Intron	NM_000732	NP_000723	P04234	CD3D_HUMAN	Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA.	19					T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TGAAGGGGCTCACTAAAGGGG	0.463000														23			8		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7571715	7571715	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7571715G>A	uc003mxp.1	+	13	2080	c.1801G>A	c.(1801-1803)Gga>Aga	p.G601R	DSP_uc003mxq.1_Missense_Mutation_p.G601R|DSP_uc021yle.1_Missense_Mutation_p.G601R	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	601	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)		AGAGATGTTTGGAGATGATGA	0.483000														216			28		0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38187400	38187400	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:38187400G>A	uc003xli.3	-	5	1595	c.1077C>T	c.(1075-1077)ccC>ccT	p.P359P	WHSC1L1_uc011lbm.2_Silent_p.P359P|WHSC1L1_uc010lwe.3_Silent_p.P359P|WHSC1L1_uc003xlj.3_Silent_p.P359P	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	359					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TCTGAGGTCGGGGTTTCCGAA	0.363000			T	NUP98	AML									74			21		0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128455945	128455945	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128455945C>T	uc003vnv.2	+	15	3739	c.3323C>T	c.(3322-3324)cCc>cTc	p.P1108L	CCDC136_uc003vnu.2_Intron|CCDC136_uc003vnx.2_Missense_Mutation_p.P924L|CCDC136_uc010llq.2_Missense_Mutation_p.P477L|CCDC136_uc003vny.2_Intron	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	1108	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTTGAAAGTCCCGAAGAAAAT	0.493000														27			7		0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6477676	6477676	+	Missense_Mutation	SNP	G	A	A	rs138597075		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6477676G>A	uc001mdh.3	-	6	1676	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	TRIM3_uc001mdi.3_Missense_Mutation_p.S427F|TRIM3_uc010raj.2_Missense_Mutation_p.S308F|TRIM3_uc009yfd.3_Missense_Mutation_p.S427F|TRIM3_uc010rak.1_Missense_Mutation_p.S427F|TRIM3_uc001mdj.2_Missense_Mutation_p.S308F	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	427					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCGTCCGGGGAAGGTGGCAG	0.697000														21			13		0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8583216	8583216	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:8583216C>T	uc003glk.3	+	0	1000	c.507C>T	c.(505-507)ttC>ttT	p.F169F	GPR78_uc021xlj.1_Intron|CPZ_uc003gll.3_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	169					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						GTCCGCGCTTCGCAGCCTTCA	0.697000														8			4		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41585335	41585335	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:41585335C>T	uc010skn.2	+	1	732	c.724C>T	c.(724-726)Cga>Tga	p.R242*		NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	242	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TATAGGAGGTCGACCAAATCA	0.303000														34			14		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18657714	18657714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:18657714G>A	uc003zne.4	+	7	1064	c.912G>A	c.(910-912)acG>acA	p.T304T	ADAMTSL1_uc003znb.3_Silent_p.T304T|ADAMTSL1_uc003znc.4_Silent_p.T304T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	304						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAGGGAGACGGATTTCTTTC	0.463000														36			7		0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99459391	99459391	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99459391G>A	uc003ury.1	+	10	1285	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V	CYP3A43_uc003urx.1_Silent_p.V394V|CYP3A43_uc003urz.1_Silent_p.V394V|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Silent_p.V284V|CYP3A43_uc003usb.1_Silent_p.V254V	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	394			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GGTTAGCAGTGATGGTTCCAA	0.458000														82			40		0	0	1	0	0
IGJ	3512	broad.mit.edu	37	4	71532205	71532205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71532205C>T	uc010ihz.3	-	0	144	c.3G>A	c.(1-3)atG>atA	p.M1I	IGJ_uc003hfn.4_Missense_Mutation_p.M1I	NM_144646	NP_653247	P01591	IGJ_HUMAN	Homo sapiens immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides (IGJ), mRNA.	1					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			AATGGTTCTTCATCTTGACTT	0.388000														47			25		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29056049	29056049	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29056049C>T	uc002kws.3	+	15	2935	c.2826C>T	c.(2824-2826)tcC>tcT	p.S942S	DSG3_uc002kwt.3_Silent_p.S224S	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	942					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.S942F(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTCTGGTTCCCTCGTGCAAC	0.507000														106			31		0	0	1	0	0
PROP1	5626	broad.mit.edu	37	5	177421114	177421114	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:177421114C>T	uc003mif.1	-	1	644	c.335G>A	c.(334-336)cGa>cAa	p.R112Q		NM_006261	NP_006252	O75360	PROP1_HUMAN	Homo sapiens PROP paired-like homeobox 1 (PROP1), mRNA.	112					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCTGGATTCGGGCCTCACT	0.527000														102			37		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158074137	158074137	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:158074137C>T	uc003ipj.2	+	8	1374	c.1172C>T	c.(1171-1173)aCt>aTt	p.T391I	GLRB_uc021xtp.1_Intron|GLRB_uc021xtq.1_Missense_Mutation_p.T391I	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	391					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GGAACAGGGACTCCTGTTCAT	0.408000														39			19		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5754219	5754219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:5754219C>T	uc002mda.3	+	12	1302	c.1241C>T	c.(1240-1242)tCg>tTg	p.S414L	CATSPERD_uc010duj.1_Missense_Mutation_p.S72L	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	414						integral to membrane											TTGACTGCTTCGTTGATACCC	0.453000														138			64		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118456684	118456684	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:118456684C>T	uc010jcl.1	+	8	1133	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	DMXL1_uc003ksd.2_Missense_Mutation_p.R318C|DMXL1_uc021ycw.1_Missense_Mutation_p.R145C|DMXL1_uc003ksc.1_Missense_Mutation_p.R318C	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	318										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAGACATTTTCGTAGAGGTCG	0.398000														141			12		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251824	25251824	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:25251824C>T	uc002dod.4	-	6	2624	c.2217G>A	c.(2215-2217)caG>caA	p.Q739Q	ZKSCAN2_uc010vcl.2_Silent_p.Q535Q	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	739					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)		CAAAAGGCCTCTGATGCACAA	0.488000														77			23		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35923043	35923043	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:35923043C>T	uc003olm.3	-	16	2229	c.2118G>A	c.(2116-2118)agG>agA	p.R706R	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Silent_p.R288R|SLC26A8_uc003oll.3_Silent_p.R601R|SLC26A8_uc003oln.3_Silent_p.R706R	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	706	Interaction with RACGAP1.|STAS.				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						TGAGTGATCTCCTCCCCTGGC	0.517000														55			29		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31535929	31535929	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31535929C>T	uc003aka.3	-	0	541	c.412G>A	c.(412-414)Gga>Aga	p.G138R		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	138					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCAGGGACTCCACTCTGCCCT	0.617000														47			10		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55377343	55377343	+	Missense_Mutation	SNP	C	T	T	rs138402445		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55377343C>T	uc002qhl.4	+	6	1147	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	KIR3DL2_uc002qho.4_Missense_Mutation_p.R362C|KIR3DL2_uc010esh.3_Missense_Mutation_p.R345C			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	362					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		tctcctTTATCGCTGGTGCTC	0.532000														43			13		0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166896371	166896371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:166896371C>T	uc001gdx.2	-	6	983	c.927G>A	c.(925-927)atG>atA	p.M309I		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	309						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ACAGGACCTTCATGGAGTCTC	0.463000														107			62		0	0	1	0	0
AURKC	6795	broad.mit.edu	37	19	57746631	57746631	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57746631C>T	uc002qoe.3	+	6	965	c.776C>T	c.(775-777)cCa>cTa	p.P259L	AURKC_uc002qoc.3_Missense_Mutation_p.P240L|AURKC_uc002qod.3_Missense_Mutation_p.P225L|AURKC_uc010etv.3_Missense_Mutation_p.P256L	NM_001015878	NP_003151	Q9UQB9	AURKC_HUMAN	Homo sapiens aurora kinase C (AURKC), transcript variant 1, mRNA.	259	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		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;0.0122)		GTGAGGTTTCCACTATCAATG	0.517000														36			17		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046902	175046902	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175046902G>A	uc001gkl.1	+	1	461	c.348G>A	c.(346-348)gaG>gaA	p.E116E	TNN_uc010pmx.1_Silent_p.E116E	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	116					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.E116D(2)|p.E116K(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAAGCTGGAGGAAGAGATGG	0.552000														37			12		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70049347	70049347	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:70049347C>T	uc010kak.3	+	24	3686	c.3410C>T	c.(3409-3411)tCa>tTa	p.S1137L	BAI3_uc003pev.4_Missense_Mutation_p.S1137L|BAI3_uc011dxx.2_Missense_Mutation_p.S343L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1137					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTGTTTGATTCATTGCAAGGC	0.443000														118			69		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42231188	42231188	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:42231188G>A	uc003ose.2	-	7	2317	c.1754C>T	c.(1753-1755)cCc>cTc	p.P585L	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.P585L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	585	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GACAGACACGGGCATGACCAT	0.692000														70			21		0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796874	62796874	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62796874G>A	uc002jew.4	-	5	1077	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	PLEKHM1P_uc002jev.3_Non-coding_Transcript|PLEKHM1P_uc010wqe.1_Missense_Mutation_p.R56C					Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene (PLEKHM1P), non-coding RNA.																		GACTCACAGCGAAGCAGGGAG	0.627000														25			10		0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10781819	10781819	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:10781819G>T	uc001mja.3	+	5	841	c.692G>T	c.(691-693)tGc>tTc	p.C231F		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	231					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AATTCCAAATGCGTGGGAGCA	0.438000														87			36		1.67305e-13	1.68045e-13	1	1	0
SPERT	220082	broad.mit.edu	37	13	46287520	46287520	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:46287520G>A	uc001van.1	+	2	440	c.360G>A	c.(358-360)cgG>cgA	p.R120R	SPERT_uc001vao.2_Silent_p.R84R	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	120						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		ACCCGCCGCGGGTGCAGCTCA	0.627000														82			33		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44974300	44974301	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:44974300_44974301GG>AA	uc001wvn.3	-	0	2199_2200	c.1890_1891CC>TT	c.(1888-1893)gccccc>gcTTcc	p.P631S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	631	Ala-rich.					cilium		p.A630T(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ACTTCAGCGGGGGCCTCCTCAG	0.639000														27			5		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98146820	98146820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98146820G>A	uc001kml.2	-	13	1983	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	581	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ATCTGGCCAGGAACACTCATC	0.597000														54			21		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138163315	138163315	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:138163315C>T	uc002tva.1	+	11	2540	c.2540C>T	c.(2539-2541)tCc>tTc	p.S847F	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.S737F	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)		ACTGCTTGGTCCAAGTTTACG	0.502000														22			8		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64984868	64984868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:64984868C>T	uc002eoi.3	-	11	2130	c.1696G>A	c.(1696-1698)Gac>Aac	p.D566N	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Missense_Mutation_p.D566N|CDH11_uc010vin.2_Missense_Mutation_p.D440N	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	566	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGGTACAAGTCCTGCTTCTGC	0.602000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				38			8		0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117929	20117929	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:20117929C>T	uc002noq.3	-	3	505	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	ZNF682_uc002noo.3_Missense_Mutation_p.E96K|ZNF682_uc002nop.3_Missense_Mutation_p.E96K|ZNF682_uc010eck.3_Missense_Mutation_p.E52K	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTATAAATTTCTTTTTGATCC	0.328000														55			25		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5238990	5238990	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:5238990G>A	uc002mbv.3	-	12	2023	c.1789C>T	c.(1789-1791)Cgc>Tgc	p.R597C	PTPRS_uc002mbu.1_Missense_Mutation_p.R584C|PTPRS_uc010xin.2_Missense_Mutation_p.R584C|PTPRS_uc002mbw.3_Missense_Mutation_p.R584C|PTPRS_uc002mbx.3_Missense_Mutation_p.R588C|PTPRS_uc002mby.3_Missense_Mutation_p.R584C	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	597	Fibronectin type-III 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGCGGCGAGCGGGCCGCCAGG	0.711000														61			19		0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91449187	91449187	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:91449187C>T	uc010bnz.2	+	4	763	c.648C>T	c.(646-648)gtC>gtT	p.V216V	MAN2A2_uc010boa.3_Silent_p.V258V|MAN2A2_uc002bqc.3_Silent_p.V216V|MAN2A2_uc010uql.2_5'Flank|MAN2A2_uc010uqm.2_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	216					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGGCAGAGGTCTCCTTCTTCG	0.577000														40			17		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990342	63990342	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:63990342C>T	uc003peh.3	-	3	1148	c.1114G>A	c.(1114-1116)Gac>Aac	p.D372N	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	372					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TCTTTCCTGTCCTTGGAATAA	0.478000														149			52		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115371995	115371995	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115371995C>T	uc001lal.3	-	29	3660	c.3496G>A	c.(3496-3498)Gag>Aag	p.E1166K	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Missense_Mutation_p.E1166K|NRAP_uc001lak.3_Missense_Mutation_p.E1131K	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1166						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTCCTTACCTCACTCTGCAAT	0.542000														61			25		0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703443	55703443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55703443C>T	uc010ris.2	-	0	434	c.434G>A	c.(433-435)cGg>cAg	p.R145Q		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R145W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GACAATCAACCGCATACAGAT	0.428000														71			29		0	0	1	0	0
C20orf111	51526	broad.mit.edu	37	20	42825913	42825913	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42825913G>A	uc002xlk.3	-	3	910	c.658C>T	c.(658-660)Ctg>Ttg	p.L220L		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	Homo sapiens chromosome 20 open reading frame 111 (C20orf111), mRNA.	220										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	14		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			ACACTCTGCAGGCCTGAAAAG	0.522000														80			11		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51974734	51974734	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51974734G>A	uc002abh.3	+	1	506	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	SCG3_uc010ufz.2_Intron	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	35					platelet activation|platelet degranulation	extracellular region|stored secretory granule		p.E35K(2)		breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ACATAATAGAGAATTAAGTGC	0.239000														53			4		0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15666539	15666539	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:15666539G>A	uc003stc.3	-	1	803	c.522C>T	c.(520-522)tcC>tcT	p.S174S		NM_005924	NP_005915	P50222	MEOX2_HUMAN	Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA.	174					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTCCTTCCTGGGAGTCTGAAA	0.363000														72			27		0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11068332	11068332	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:11068332C>T	uc003sry.2	+	6	1794	c.1342C>T	c.(1342-1344)Cgc>Tgc	p.R448C	PHF14_uc011jxi.2_Missense_Mutation_p.R163C|PHF14_uc011jxj.2_Missense_Mutation_p.R163C	NM_014660	NP_055475	O94880	PHF14_HUMAN	Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA.	448							zinc ion binding	p.R448C(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGAAGACCCTCGCTTTGCTAG	0.433000														35			18		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764008	82764008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82764008C>T	uc003uhx.2	-	2	3147	c.2858G>A	c.(2857-2859)gGa>gAa	p.G953E	PCLO_uc003uhv.2_Missense_Mutation_p.G953E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	899	Pro-rich.				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						TGAATGAGGTCCAGGTTGGCC	0.522000														26			11		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305718	54305718	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54305718C>T	uc021smr.1	+	0	618	c.618C>T	c.(616-618)tcC>tcT	p.S206S	UNC13C_uc021sms.1_Silent_p.S206S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	206					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)		TGAAAAAATCCTGGGGAATAA	0.438000														112			39		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183721410	183721410	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:183721410G>A	uc003ivd.1	+	26	8081	c.8006G>A	c.(8005-8007)gGg>gAg	p.G2669E		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2669					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGCTACGACGGGTACTACGTA	0.692000														15			3		0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40191557	40191557	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:40191557C>T	uc002yxf.3	+	8	1402	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	ETS2_uc002yxg.3_Silent_p.F314F	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	314					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TCGAGAGCTTCGAAGATGACT	0.547000														34			14		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038129	75038129	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75038129C>T	uc001dgg.3	-	13	3484	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1089	Glu-rich.									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						AAAGCATCTTCATCCTTGAGT	0.433000														184			74		0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40754416	40754416	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40754416C>T	uc001zlu.2	+	2	1809	c.1738C>T	c.(1738-1740)Cct>Tct	p.P580S	BAHD1_uc001zlt.2_Missense_Mutation_p.P579S|BAHD1_uc010bbp.1_Missense_Mutation_p.P579S|BAHD1_uc001zlv.2_Missense_Mutation_p.P580S	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	580	Arg-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCGCCCACGCCCTCGCCGCCG	0.647000														109			49		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149500802	149500802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149500802C>T	uc003lro.3	-	16	2897	c.2428G>A	c.(2428-2430)Gtg>Atg	p.V810M	PDGFRB_uc010jhd.3_Missense_Mutation_p.V649M	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	810	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCATTGGCCACCTGGTAGCTG	0.597000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									49			16		0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67815433	67815433	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67815433C>T	uc001one.3	+	12	1677	c.1548C>T	c.(1546-1548)atC>atT	p.I516I	TCIRG1_uc001ong.3_Silent_p.I300I|TCIRG1_uc021qmm.1_Silent_p.I67I|TCIRG1_uc009ysd.3_5'Flank	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	516					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	p.I516I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CCTTTGGCATCGATCCTGTGA	0.647000														34			16		0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237400	29237400	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:29237400C>T	uc001wqe.3	+	0	1114	c.915C>T	c.(913-915)tcC>tcT	p.S305S		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	305				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GCGCCGGCTCCCTCTACTGGC	0.701000														131			41		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320147	56320147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56320147C>T	uc010ygf.2	-	4	2540	c.1829G>A	c.(1828-1830)aGg>aAg	p.R610K	NLRP11_uc002qlz.3_Missense_Mutation_p.R511K|NLRP11_uc002qmb.3_Missense_Mutation_p.R511K|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	610							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGCAGTTGGCCTTATAAGTGG	0.408000														102			37		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1906950	1906950	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1906950G>A	uc002qxe.3	-	13	2761	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L	MYT1L_uc002qxd.3_Missense_Mutation_p.S643L|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	645					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTATTCAAACGAGGTCTTGGA	0.483000														59			27		0	0	1	0	0
KLK9	284366	broad.mit.edu	37	19	51507037	51507037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51507037G>A	uc002pux.1	-	3	613	c.526C>T	c.(526-528)Cac>Tac	p.H176Y	KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Missense_Mutation_p.H147Y|KLK8_uc002puq.1_5'Flank|KLK8_uc002pur.1_5'Flank|KLK8_uc002pus.1_5'Flank|KLK8_uc002put.1_5'Flank|KLK8_uc002puu.1_5'Flank|KLK8_uc002puv.1_Non-coding_Transcript	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA.	176	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		TATGCCCAGTGACAGAGTTTG	0.567000														44			28		0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47650116	47650116	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:47650116C>T	uc010jzj.1	+	5	1822	c.1821C>T	c.(1819-1821)ttC>ttT	p.F607F	GPR111_uc003oyy.3_Silent_p.F539F	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	607					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TCCTGGCCTTCGTGATCCCAG	0.537000														36			12		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106118213	106118213	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106118213G>A	uc001kyh.3	+	1	258	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	42										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATTTCGGATTGAATATGAGAG	0.388000														53			16		0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152737408	152737408	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152737408G>T	uc002tya.3	-	3	364	c.296C>A	c.(295-297)aCa>aAa	p.T99K	CACNB4_uc002txy.3_Missense_Mutation_p.T65K|CACNB4_uc002txz.3_Missense_Mutation_p.T81K|CACNB4_uc010fnz.3_Missense_Mutation_p.T99K|CACNB4_uc021vre.1_Missense_Mutation_p.T65K|CACNB4_uc002tyb.2_Missense_Mutation_p.T65K	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	99					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	GCTCACATTTGTCTTCACGGC	0.448000														31			14		4.7546e-09	4.77006e-09	1	1	0
TDRKH	11022	broad.mit.edu	37	1	151751698	151751698	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151751698G>A	uc009wnb.1	-	4	624	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Missense_Mutation_p.R144C|TDRKH_uc001ezc.4_Intron|TDRKH_uc001eza.4_Missense_Mutation_p.R148C|TDRKH_uc001ezd.4_Missense_Mutation_p.R148C|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	148	KH 2.						RNA binding	p.R148C(2)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGATAGAACGAATTGTCTCG	0.398000														75			23		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49427388	49427388	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49427388G>A	uc001rta.4	-	38	11100	c.11100C>T	c.(11098-11100)ttC>ttT	p.F3700F		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3700	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.Q3699*(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGTTGCCAGGGAAGAAGCCCC	0.582000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				99			28		0	0	1	0	0
RNF186	54546	broad.mit.edu	37	1	20140998	20140998	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:20140998G>A	uc001bcr.3	-	0	774	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_019062	NP_061935	Q9NXI6	RN186_HUMAN	Homo sapiens ring finger protein 186 (RNF186), mRNA.	199						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTGCTGGGGAGACAGCAGA	0.592000														44			9		0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191874651	191874651	+	Missense_Mutation	SNP	G	A	A	rs11549696		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:191874651G>A	uc010fse.2	-	1	511	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S	STAT1_uc021vue.1_5'UTR|STAT1_uc002usj.2_Missense_Mutation_p.P27S|STAT1_uc002usk.2_Missense_Mutation_p.P27S|STAT1_uc002usl.2_Missense_Mutation_p.P29S|STAT1_uc010fsf.1_5'UTR	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	27					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ATTTCCATGGGAAAACTGTCA	0.408000														186			10		0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10228227	10228227	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:10228227C>T	uc021ogc.1	+	24	4073	c.3385C>T	c.(3385-3387)Cag>Tag	p.Q1129*	UBE4B_uc001aqs.4_Nonsense_Mutation_p.Q1078*|UBE4B_uc001aqr.4_Nonsense_Mutation_p.Q949*|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Nonsense_Mutation_p.Q533*|UBE4B_uc001aqu.3_5'Flank	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	1078					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TCAGCTTGCTCAGGATGAGCG	0.587000														37			12		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117250683	117250683	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:117250683C>T	uc003vjd.3	+	18	3231	c.3099C>T	c.(3097-3099)ttC>ttT	p.F1033F	CFTR_uc011knq.2_Silent_p.F439F	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1033	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.F1033V(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GAGCATATTTCCTCCAAACCT	0.388000									Cystic Fibrosis					65			6		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48734526	48734526	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48734526C>T	uc002isl.3	+	3	548	c.468C>T	c.(466-468)atC>atT	p.I156I	ABCC3_uc002isk.4_Silent_p.I156I	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	156					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCTCCAAGATCCTTTTAGCCA	0.567000														118			47		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299207	58299207	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:58299207G>A	uc001vhq.1	+	3	4151	c.3259G>A	c.(3259-3261)Gac>Aac	p.D1087N	PCDH17_uc010aec.1_Missense_Mutation_p.D1086N|PCDH17_uc001vhr.1_Missense_Mutation_p.D176N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1087					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCAACCAAGAGACCCTCCCTT	0.532000														102			38		0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92353616	92353616	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:92353616G>A	uc010aue.3	-	7	1256	c.783C>T	c.(781-783)acC>acT	p.T261T	FBLN5_uc010aud.3_Silent_p.T225T|FBLN5_uc001xzx.4_Silent_p.T220T	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	220	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGTTGACGCAGGTTTGCACGC	0.522000														97			49		0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39959963	39959963	+	Silent	SNP	C	T	T	rs147765614		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39959963C>T	uc002olo.4	+	15	1478	c.1299C>T	c.(1297-1299)ctC>ctT	p.L433L	SUPT5H_uc002olp.4_Silent_p.L433L|SUPT5H_uc002olq.4_Silent_p.L429L|SUPT5H_uc002oln.4_Silent_p.L433L|SUPT5H_uc002olr.4_Silent_p.L433L|SUPT5H_uc002ols.1_Silent_p.L56L|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	433	KOW 2.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGGTGAGCTCATCAACCTGC	0.612000														23			9		0	0	1	0	0
TTLL11	158135	broad.mit.edu	37	9	124752002	124752002	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:124752002G>A	uc011lyl.2	-	3	1199	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	TTLL11_uc004blr.3_Non-coding_Transcript|TTLL11_uc011lym.1_Silent_p.I14I|TTLL11_uc004blt.1_Silent_p.I337I|TTLL11_uc004blu.1_3'UTR	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA.	337	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	p.I337I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CAGGTTTCACGATAAAAGTGG	0.532000														172			44		0	0	1	0	0
C20orf94	128710	broad.mit.edu	37	20	10579331	10579331	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:10579331T>A	uc010zre.2	+	4	427	c.247T>A	c.(247-249)Ttt>Att	p.F83I		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	83							protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						AGGTTATGGCTTTCAAATCAC	0.453000														58			8		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19444786	19444786	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19444786C>T	uc010tcj.1	-	0		c.1324G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ATTAACTGGCCTTTTAACATA	0.313000														87			22		0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18603886	18603886	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:18603886C>T	uc002dfg.3	+	8	1053	c.853C>T	c.(853-855)Ccc>Tcc	p.P285S	ABCC6P1_uc010vam.2_Missense_Mutation_p.P228S					Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 1 (ABCC6P1), non-coding RNA.																		TATTGGTGATCCCAAGCCTCC	0.562000														19			13		0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813251	248813251	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248813251C>T	uc010pzo.2	-	0	935	c.935G>A	c.(934-936)gGa>gAa	p.G312E		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTTACCTTTCCTGAGGACAC	0.428000														60			23		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64633642	64633642	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:64633642C>T	uc003dmg.3	-	10	1716	c.1684G>A	c.(1684-1686)Gat>Aat	p.D562N	ADAMTS9_uc011bfo.2_Missense_Mutation_p.D534N|ADAMTS9_uc003dmh.1_Missense_Mutation_p.D391N|ADAMTS9_uc003dmk.1_Missense_Mutation_p.D562N	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	562	Disintegrin.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCCGTCCCATCGGCCCAGGGT	0.522000														117			30		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027359	55027359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:55027359G>A	uc002lgn.3	+	3	1351	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	332					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CAACACAAGGGAAGATCTTCC	0.463000														57			19		0	0	1	0	0
NR1I2	8856	broad.mit.edu	37	3	119535955	119535955	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:119535955C>T	uc003edj.3	+	8	3040	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	NR1I2_uc003edi.3_Missense_Mutation_p.R364C|NR1I2_uc003edk.3_Missense_Mutation_p.R440C|NR1I2_uc003edl.3_Missense_Mutation_p.R289C	NM_003889	NP_003880	O75469	NR1I2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 2 (NR1I2), transcript variant 1, mRNA.	401	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CACCGAGCTCCGCAGCATCAA	0.582000														64			37		0	0	1	0	0
CRYBA2	1412	broad.mit.edu	37	2	219856910	219856910	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219856910C>T	uc002vjj.1	-	2	252	c.217G>A	c.(217-219)Gga>Aga	p.G73R	CRYBA2_uc002vjk.1_Missense_Mutation_p.G73R	NM_057094	NP_476435	P53672	CRBA2_HUMAN	Homo sapiens crystallin, beta A2 (CRYBA2), transcript variant 3, mRNA.	73	Beta/gamma crystallin 'Greek key' 2.						structural constituent of eye lens			endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGATAGTCTCCCTTCTCCAGA	0.617000														38			18		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969396	140969396	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140969396G>A	uc011mwp.2	+	3	723	c.723G>A	c.(721-723)ctG>ctA	p.L241L		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	241	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCATTTCCCTGACAGAAGTGG	0.483000														65			78		0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74429805	74429805	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:74429805G>A	uc001ovh.3	-	1	408	c.155C>T	c.(154-156)cCa>cTa	p.P52L	CHRDL2_uc001ovg.3_5'UTR|CHRDL2_uc001ovi.3_Missense_Mutation_p.P52L|CHRDL2_uc001ovk.1_Missense_Mutation_p.P52L	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	52	VWFC 1.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CAGGCCTTGTGGCTCCAAGTA	0.577000														25			8		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187524930	187524930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187524930G>A	uc003izf.3	-	18	10938	c.10750C>T	c.(10750-10752)Cct>Tct	p.P3584S		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3584	Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCCATCTGAGGGTCGAGACTG	0.483000										HNSCC(5;0.00058)				26			8		0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112043097	112043097	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:112043097G>A	uc001ebh.4	-	1	1199	c.432C>T	c.(430-432)acC>acT	p.T144T	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Intron	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	144					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CAAACATGGGGGTCAATCCCA	0.488000														112			45		0	0	1	0	0
SH3BGR	6450	broad.mit.edu	37	21	40834415	40834415	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:40834415C>T	uc002yya.3	+	1	403	c.349C>T	c.(349-351)Cct>Tct	p.P117S	SH3BGR_uc002yxz.3_Missense_Mutation_p.P6S	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	117					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		AGAGAATGTTCCTGGAGAGAA	0.418000														50			23		0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58035215	58035215	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:58035215G>A	uc001nmq.1	-	0	518	c.116C>T	c.(115-117)tCc>tTc	p.S39F		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S39S(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				TGTGTGAATGGACACCACAAT	0.488000														60			22		0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71833266	71833266	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:71833266C>T	uc004ahe.3	+	3	651	c.333C>T	c.(331-333)gtC>gtT	p.V111V	TJP2_uc011lrs.2_Silent_p.V88V|TJP2_uc004ahb.1_Silent_p.V88V|TJP2_uc011lrt.1_Silent_p.V88V|TJP2_uc004ahd.3_Silent_p.V111V|TJP2_uc004ahf.3_Silent_p.V111V|TJP2_uc011lru.2_Silent_p.V115V|TJP2_uc011lrv.2_Silent_p.V142V	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	111	PDZ 1.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GTGGGAAGGTCGCTGCTATTG	0.433000														46			25		0	0	1	0	0
SCGB2B2	284402	broad.mit.edu	37	19	35085210	35085210	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35085210G>A	uc002nvn.3	-	1	138	c.116C>T	c.(115-117)tCc>tTc	p.S39F		NM_001025591	NP_001020762	Q4G0G5	SCGBL_HUMAN	Homo sapiens secretoglobin, family 2B, member 2 (SCGB2B2), mRNA.	39						extracellular region	binding										GAGGTCTTGGGACACATCAAA	0.507000														104			23		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45108503	45108503	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:45108503C>T	uc010skz.1	-	10	1291	c.1166G>A	c.(1165-1167)cGa>cAa	p.R389Q	NELL2_uc001rof.3_Missense_Mutation_p.R338Q|NELL2_uc001rog.2_Missense_Mutation_p.R339Q|NELL2_uc001roh.2_Missense_Mutation_p.R339Q|NELL2_uc009zkd.2_Missense_Mutation_p.R338Q|NELL2_uc010sla.1_Missense_Mutation_p.R362Q|NELL2_uc001roi.1_Missense_Mutation_p.R339Q|NELL2_uc010slb.1_Missense_Mutation_p.R338Q|NELL2_uc001roj.2_Missense_Mutation_p.R339Q	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	339	VWFC 2.				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)		AAAGTAGGTTCGTCCTTGAAA	0.348000														59			19		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47561043	47561043	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47561043G>A	uc003gxk.1	+	12	2702	c.2538G>A	c.(2536-2538)aaG>aaA	p.K846K	ATP10D_uc003gxl.1_Silent_p.K94K	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	846					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GTATAGCAAAGAAGGTGAGAC	0.428000														86			17		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70974966	70974966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70974966C>T	uc001swb.4	-	7	1804	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K	PTPRB_uc010sto.2_Missense_Mutation_p.E592K|PTPRB_uc010stp.2_Missense_Mutation_p.E502K|PTPRB_uc001swc.4_Missense_Mutation_p.E810K|PTPRB_uc001swa.4_Missense_Mutation_p.E810K|PTPRB_uc001swd.4_Missense_Mutation_p.E809K|PTPRB_uc009zrr.2_Missense_Mutation_p.E689K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	592	Fibronectin type-III 7.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACCACATTTTCATGGATCAGT	0.463000														137			42		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16315656	16315656	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:16315656G>A	uc002den.4	-	1	106	c.69C>T	c.(67-69)gcC>gcT	p.A23A	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Silent_p.A23A|ABCC6_uc002deo.4_Silent_p.A23A	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	23					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)		GCAGGCTGGTGGCGGCAGGTT	0.612000														18			12		0	0	1	0	0
E2F3	1871	broad.mit.edu	37	6	20490515	20490515	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:20490515C>T	uc003nda.2	+	6	1579	c.1252C>T	c.(1252-1254)Cta>Tta	p.L418L	E2F3_uc021ymj.1_Silent_p.L287L	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	418	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.N417D(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TCCTTCCAACCTAGAAGGACC	0.527000														79			28		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424692	125424692	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125424692G>A	uc022bmz.1	+	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G283A(1)		breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCAGCTGCTGGAAAGCGTAAA	0.428000														160			77		0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17721594	17721594	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17721594G>A	uc001bak.1	+	12	1485	c.1485G>A	c.(1483-1485)gaG>gaA	p.E495E		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	487	Poly-Leu.				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ACAAGAATGAGGGCAAAAAGG	0.512000														90			34		0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109182393	109182393	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:109182393G>A	uc001tnm.3	-	14	2608	c.2521C>T	c.(2521-2523)Cct>Tct	p.P841S	SSH1_uc001tnl.3_Missense_Mutation_p.P529S	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	841					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGGAGGGAGGTGCTGGGTCT	0.657000														35			24		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38904723	38904723	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38904723C>A	uc021wvy.1	-	23	4218	c.4019G>T	c.(4018-4020)gGa>gTa	p.G1340V	SCN11A_uc003cis.1_Missense_Mutation_p.G5V	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1340					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTTTTTGGATCCTAATTTTTT	0.348000														47			18		1.67942e-08	1.6844e-08	1	1	0
GCN1L1	10985	broad.mit.edu	37	12	120598020	120598020	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:120598020G>A	uc001txo.3	-	22	2489	c.2476C>T	c.(2476-2478)Ctg>Ttg	p.L826L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	826					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGCTGGTCAGCTGCACCTCC	0.582000														81			25		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599939	29599939	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29599939C>T	uc001usl.4	+	0	1192	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	368						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACAGTGACCTCCACCACCTTG	0.572000														31			9		0	0	1	0	0
LOC440518	440518	broad.mit.edu	37	19	22785631	22785631	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22785631G>A	uc002nqu.4	+	8		c.1638G>A								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		CAGCGCTGAAGGAGCAGCACC	0.667000														17			10		0	0	1	0	0
ANKRD5	63926	broad.mit.edu	37	20	10033879	10033879	+	Missense_Mutation	SNP	C	T	T	rs150596900		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:10033879C>T	uc002wno.3	+	8	2383	c.1990C>T	c.(1990-1992)Cct>Tct	p.P664S	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.P664S|ANKRD5_uc010gbz.3_Missense_Mutation_p.P475S	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	664							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						AGGCAAGACACCTCCTATACT	0.348000														113			21		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104176567	104176568	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104176567_104176568GG>AT	uc001kvg.1	-	1	755_756	c.228_229CC>AT	c.(226-231)ccccgt>ccATgt	p.R77C	PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.R77C|PSD_uc001kvi.1_Missense_Mutation_p.R77C|FBXL15_uc001kvj.1_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	77	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGAGCAACACGGGGTGAGGGGG	0.673000														68			32		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87069667	87069667	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87069667C>T	uc003uiv.1	-	12	1484	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	ABCB4_uc003uiw.1_Missense_Mutation_p.E470K|ABCB4_uc003uix.1_Missense_Mutation_p.E470K	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	470	ABC transporter 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCAATGATTTCCCTCAGATAG	0.358000														50			28		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51217155	51217155	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51217155C>T	uc002psx.1	-	4	711	c.692G>A	c.(691-693)cGa>cAa	p.R231Q		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	231					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCACAGGGTTCGAATCACCTC	0.647000														39			17		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8654132	8654132	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8654132C>T	uc002mkj.1	-	17	2426	c.2152G>A	c.(2152-2154)Ggg>Agg	p.G718R	ADAMTS10_uc002mki.1_Missense_Mutation_p.G205R|ADAMTS10_uc002mkk.1_Missense_Mutation_p.G350R	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	718	Spacer.				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						TCACCGGCCCCAGGTGAGGCT	0.637000														54			18		0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1775232	1775232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1775232G>A	uc001luc.2	-	6	1097	c.964C>T	c.(964-966)Cag>Tag	p.Q322*	MOB2_uc001ltq.2_Intron	NM_001909	NP_001900	P07339	CATD_HUMAN	Homo sapiens cathepsin D (CTSD), mRNA.	322					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCTCGCCCTGAATCAGCGGC	0.692000														10			9		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146805352	146805352	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:146805352G>A	uc003weu.2	+	4	1180	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	222	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.E222Q(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTCTGAAAGTGAAGGAGTAAT	0.398000										HNSCC(39;0.1)				34			23		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408708	10408708	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10408708G>A	uc002gmo.3	-	19	2389	c.2295C>T	c.(2293-2295)acC>acT	p.T765T	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	765	Actin-binding (By similarity).|Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATATTACCTTGGTGTGACCAA	0.408000														81			44		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179562850	179562850	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179562850G>A	uc010pnp.2	+	2	1006	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	TDRD5_uc021pfm.1_Missense_Mutation_p.R163Q|TDRD5_uc001gnf.2_Missense_Mutation_p.R163Q|TDRD5_uc021pfn.1_Missense_Mutation_p.R163Q	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	163	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGATTTGGACGATCATTCCAA	0.408000														123			8		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029625	13029625	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:13029625C>T	uc002wod.1	+	1	439	c.150C>T	c.(148-150)ctC>ctT	p.L50L	SPTLC3_uc002woc.3_Silent_p.L50L	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	50					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	ATGATAAGCTCATTGTTGAAT	0.358000														182			62		0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105763016	105763016	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105763016C>T	uc001kxo.1	+	8	2114	c.2080C>T	c.(2080-2082)Cct>Tct	p.P694S	SLK_uc001kxp.1_Missense_Mutation_p.P694S	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	694					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TAAAAAAGAGCCTGAAGTTAC	0.368000														95			30		0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69352210	69352210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:69352210G>A	uc001xkl.3	-	11	1627	c.1317C>T	c.(1315-1317)gcC>gcT	p.A439A	ACTN1_uc001xkk.3_Silent_p.A35A|ACTN1_uc010ttb.2_Silent_p.A374A|ACTN1_uc001xkm.3_Silent_p.A439A|ACTN1_uc001xkn.3_Silent_p.A439A|ACTN1_uc010ttc.2_Silent_p.A24A|ACTN1_uc001xko.1_Silent_p.A374A|ACTN1_uc010ttd.1_Silent_p.A418A	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	439	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CACTCTCGAAGGCCTCATGCT	0.617000														40			12		0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22348106	22348106	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:22348106G>A	uc003svg.3	-	4	386	c.73C>T	c.(73-75)Caa>Taa	p.Q25*		NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	0					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TAAGTATCTTGAAAGTATAGA	0.294000														8			5		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2040308	2040308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2040308C>T	uc003wpx.4	+	15	2101	c.1963C>T	c.(1963-1965)Ctc>Ttc	p.L655F	MYOM2_uc011kwi.2_Missense_Mutation_p.L80F	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	655	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGGAACCAACCTCTGGGAGCC	0.612000														77			11		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38925448	38925448	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38925448G>A	uc003jln.2	+	14	2589	c.2187G>A	c.(2185-2187)acG>acA	p.T729T	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	729	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTACGTTCACGAAGGTCACGA	0.433000														114			11		0	0	1	0	0
GNA14	9630	broad.mit.edu	37	9	80144023	80144023	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:80144023C>T	uc004aku.3	-	1	794	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_004297	NP_004288	O95837	GNA14_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 14 (GNA14), mRNA.	91					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						CTTAGCGTGTCCATCGCTCTG	0.478000														185			39		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102959618	102959618	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:102959618G>A	uc002tbu.1	+	6	1076	c.805G>A	c.(805-807)Gag>Aag	p.E269K	IL1RL1_uc010ywa.2_Missense_Mutation_p.E152K|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.E269K	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	269	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AATTCAACAAGAGGAAGGGCA	0.418000														132			30		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233353658	233353659	+	Missense_Mutation	DNP	GC	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233353658_233353659GC>AA	uc001hvl.2	-	11	2912_2913	c.2677_2678GC>TT	c.(2677-2679)gcc>TTc	p.A893F	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript|PCNXL2_uc001hvq.1_Missense_Mutation_p.A192F	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	893						integral to membrane		p.P892P(1)		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)				TATTGGTGAGGCGGGGTCAGGC	0.436000														34			5		0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962195	165962195	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:165962195G>A	uc003iqy.1	+	2	1141	c.971G>A	c.(970-972)cGa>cAa	p.R324Q	TRIM60_uc010iqx.1_Missense_Mutation_p.R324Q|TRIM60_uc021xty.1_Missense_Mutation_p.R324Q	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	324	B30.2/SPRY.					intracellular	zinc ion binding	p.R324Q(2)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AGAAAAAAACGAAACATTTGT	0.418000														109			25		0	0	1	0	0
ANKRD26P3	100101938	broad.mit.edu	37	13	19868687	19868687	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19868687C>T	uc010tck.2	-	12		c.1941G>A								Homo sapiens ankyrin repeat domain 26 pseudogene 3 (ANKRD26P3), non-coding RNA.																		CCTGAGAATTCCTTTTCCTTC	0.363000														13			5		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316938	30316938	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:30316938C>T	uc009xle.2	-	2	2276	c.2139G>A	c.(2137-2139)ccG>ccA	p.P713P	KIAA1462_uc001iux.3_Silent_p.P713P|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.P575P	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	713								p.P713R(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGCACGACTCGGCCCTCCCA	0.572000														45			19		0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155258222	155258222	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155258222C>T	uc001fjz.1	+	7	2301	c.2293C>T	c.(2293-2295)Ccc>Tcc	p.P765S	HCN3_uc010pfz.1_Missense_Mutation_p.P460S	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	765	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCAGCCACACCCCGGGGTCT	0.587000														95			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584835	179584835	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179584835G>A	uc021vsy.1	-	77	20027	c.19802C>T	c.(19801-19803)tCa>tTa	p.S6601L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3262L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7528	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V6601A(1)		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)			ATCAATGAATGAAATCCTGGT	0.428000														86			10		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10615137	10615137	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:10615137G>A	uc010rcc.1	-	16	2463	c.2077C>T	c.(2077-2079)Cgc>Tgc	p.R693C	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Missense_Mutation_p.R685C|MRVI1_uc001miw.2_Missense_Mutation_p.R684C|MRVI1_uc001mix.3_Missense_Mutation_p.R378C|MRVI1_uc001miz.2_Missense_Mutation_p.R602C|MRVI1_uc010rcd.1_Missense_Mutation_p.R487C|MRVI1_uc009ygd.1_Missense_Mutation_p.R378C|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	666					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		ACCCTCCGGCGAGGCATATTC	0.512000														40			13		0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7714547	7714547	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:7714547G>A	uc003gkb.4	+	14	1956	c.1956G>A	c.(1954-1956)gaG>gaA	p.E652E	SORCS2_uc011bwi.2_Silent_p.E480E	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	652						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GCGGCGAGGAGGACTACAGCT	0.637000														22			11		0	0	1	0	0
AK308867	0	broad.mit.edu	37	16	70267406	70267406	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:70267406G>A	uc010cfp.1	-	4		c.449C>T								Homo sapiens cDNA, FLJ98908.																		TGCACTAGTTGAACACGGCAA	0.378000														13			12		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541199	55541199	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55541199C>T	uc003xsd.1	+	3	4905	c.4757C>T	c.(4756-4758)cCa>cTa	p.P1586L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1586					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATCAAAAGTCCAGTGACTTCT	0.403000														55			42		0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47717316	47717316	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47717316G>A	uc001crd.1	-	16	3514	c.3359C>T	c.(3358-3360)aCc>aTc	p.T1120I	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.T1073I|STIL_uc010omo.1_Missense_Mutation_p.T1102I|STIL_uc001crc.1_Missense_Mutation_p.T1119I|STIL_uc001cre.1_Missense_Mutation_p.T1119I	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	1119					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)				ATATTTTTTGGTTGCAAATGA	0.373000														169			71		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179665278	179665278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179665278C>T	uc021vsy.1	-	3	652	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	TTN_uc021vsz.1_Missense_Mutation_p.E143K|TTN_uc021vta.1_Missense_Mutation_p.E143K|TTN_uc021vtb.1_Missense_Mutation_p.E143K|TTN_uc002unb.2_Missense_Mutation_p.E143K|TTN_uc002und.3_Missense_Mutation_p.E143K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	143	Ig-like 2.						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)			CTCTGGATTTCGGCTCCATCC	0.502000														109			44		0	0	1	0	0
NXF2	56001	broad.mit.edu	37	X	101620165	101620165	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:101620165G>A	uc022cav.1	-	19	2262	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	NXF2_uc004eiz.4_Silent_p.F339F|NXF2_uc004ejb.4_Silent_p.F427F|NXF2_uc004eiy.4_Silent_p.F427F	NM_001099686	NP_001093156	Q9GZY0	NXF2_HUMAN	Homo sapiens nuclear RNA export factor 2B (NXF2B), mRNA.	427	NTF2.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding			endometrium(2)|lung(2)	4						CCTTGGGGTCGAAGGGAATAG	0.572000														56			19		0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155148391	155148391	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155148391G>A	uc001fhs.1	+	2	436	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	KRTCAP2_uc001fho.3_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc010pez.1_Missense_Mutation_p.R105Q|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.R118Q|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_5'UTR|TRIM46_uc001fhu.1_Missense_Mutation_p.R95Q|TRIM46_uc009wpg.1_Missense_Mutation_p.R105Q|TRIM46_uc009wpf.2_3'UTR|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	118						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGGAGGAAGCGAGGTGCTTTG	0.582000														192			90		0	0	1	0	0
FAM189A2	9413	broad.mit.edu	37	9	72000820	72000820	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:72000820C>T	uc010mon.1	+	8	917	c.813C>T	c.(811-813)acC>acT	p.T271T	FAM189A2_uc004ahg.2_Silent_p.T271T|FAM189A2_uc010moo.1_Silent_p.T106T	NM_001127608	NP_004807	Q15884	F1892_HUMAN	Homo sapiens family with sequence similarity 189, member A2 (FAM189A2), transcript variant 2, mRNA.	271						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCTTGAGGACCAGGTCGAAGA	0.547000														33			10		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19339087	19339087	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19339087C>T	uc002nlz.3	+	7	2757	c.2658C>T	c.(2656-2658)gcC>gcT	p.A886A	NCAN_uc010ecc.1_Silent_p.A450A	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	886					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GAGTTCCAGCCATGTCTACAC	0.602000														98			32		0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47583854	47583854	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:47583854C>T	uc002ioz.4	+	2	527	c.402C>T	c.(400-402)ctC>ctT	p.L134L		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	134					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCTCGGGCCTCGTGTTCTCCT	0.692000														20			9		0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7811414	7811414	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:7811414G>A	uc011bwk.1	-	8	1254	c.981C>T	c.(979-981)atC>atT	p.I327I	AFAP1_uc003gkg.1_Silent_p.I327I	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	327						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CCAGACTGATGATCTTGGTGA	0.498000														40			22		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175334383	175334383	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175334383G>A	uc001gkp.1	-	9	2431	c.2350C>T	c.(2350-2352)Cat>Tat	p.H784Y	TNR_uc009wwu.1_Missense_Mutation_p.H784Y	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	784	Fibronectin type-III 6.				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)					GAGGTCACATGAGAAAAGTGC	0.507000														32			16		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531185	140531185	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140531185C>T	uc003lir.3	+	0	1347	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	449	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCGCCTTCACCCAAACCT	0.582000														176			72		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7670265	7670265	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7670265C>T	uc002mgu.4	+	1	403	c.302C>T	c.(301-303)cCc>cTc	p.P101L	CAMSAP3_uc002mgv.4_Missense_Mutation_p.P101L	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	101					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCCCCCAACCCCTCTGCACTG	0.682000														129			25		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102711298	102711298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102711298G>A	uc001phj.1	-	4	717	c.652C>T	c.(652-654)Cat>Tat	p.H218Y		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	218					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CCAATTTCATGAGCAGCAACG	0.423000														80			33		0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52880906	52880906	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:52880906G>A	uc003pbh.2	-	8	1296	c.806C>T	c.(805-807)cCc>cTc	p.P269L	ICK_uc003pbi.2_Missense_Mutation_p.P269L|ICK_uc003pbj.3_Missense_Mutation_p.P269L	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	269	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TCGTTTCTTGGGATCCCACTG	0.408000														79			38		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21470000	21470000	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:21470000C>T	uc002kuq.3	+	41	5415	c.5329C>T	c.(5329-5331)Ccc>Tcc	p.P1777S	LAMA3_uc002kur.3_Missense_Mutation_p.P1777S|LAMA3_uc002kus.4_Missense_Mutation_p.P168S|LAMA3_uc002kut.4_Missense_Mutation_p.P168S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1777	Domain III A.|Laminin EGF-like 14.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTCGGGAATCCCCAGAAATT	0.493000														120			35		0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33597733	33597733	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:33597733C>T	uc002nug.1	+	9	1527	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	405						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AACGCCTGACCCAGGGACACA	0.522000														69			13		0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182841908	182841908	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:182841908G>A	uc003flh.4	-	5	1436	c.1212C>T	c.(1210-1212)atC>atT	p.I404I		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	404					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			ACCTTAGGCGGATTTTATAGA	0.453000														147			50		0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110466201	110466201	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110466201G>A	uc001dyu.2	+	5	1371	c.958G>A	c.(958-960)Ggg>Agg	p.G320R	CSF1_uc001dyt.2_Missense_Mutation_p.G320R|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Missense_Mutation_p.G320R|CSF1_uc021orj.1_Intron	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	320					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGTACCCCAAGGGACAGAGCT	0.587000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			39		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53839063	53839063	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:53839063G>A	uc003dgv.4	+	44	5802	c.5639G>A	c.(5638-5640)aGg>aAg	p.R1880K	CACNA1D_uc003dgu.4_Missense_Mutation_p.R1900K|CACNA1D_uc003dgy.4_Missense_Mutation_p.R1856K|CACNA1D_uc003dgw.4_Missense_Mutation_p.R1547K|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1880					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GACTCTGAGAGGCCCCGAGGC	0.537000														113			23		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69000035	69000035	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:69000035G>T	uc003xxv.1	+	18	2131	c.2104G>T	c.(2104-2106)Gta>Tta	p.V702L	PREX2_uc003xxu.1_Missense_Mutation_p.V702L|PREX2_uc011lez.1_Missense_Mutation_p.V637L	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	702	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGTGCATGCTGTAGGAAGAGG	0.453000														142			37		1.47244e-24	1.48105e-24	1	1	0
LRMP	4033	broad.mit.edu	37	12	25257389	25257389	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:25257389G>A	uc001rgh.3	+	18	2235	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	LRMP_uc010sja.2_Missense_Mutation_p.E381K|LRMP_uc010sjc.2_Missense_Mutation_p.E381K|LRMP_uc001rgi.3_Intron|LRMP_uc010sjb.2_Missense_Mutation_p.E328K|LRMP_uc010sjd.2_Missense_Mutation_p.E328K	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	437					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)					AGAAAAATGTGAACTAAAGTA	0.403000														41			7		0	0	1	0	0
AK024141	0	broad.mit.edu	37	14	73079283	73079283	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:73079283G>A	uc010arh.1	-	0		c.521C>T								Homo sapiens cDNA FLJ14079 fis, clone HEMBB1002134, weakly similar to ZINC-FINGER PROTEIN NEURO-D4.																		ACGGCAGAGGGAAGGGAGGAA	0.517000														123			43		0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27360233	27360233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27360233C>T	uc002rjb.2	-	2	1545	c.965G>A	c.(964-966)gGg>gAg	p.G322E	PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|C2orf53_uc021vfb.1_Missense_Mutation_p.G322E	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	322										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCTGAGGCCCTGCTTCCTT	0.672000														69			22		0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25812187	25812187	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:25812187C>T	uc001bkk.3	+	7	1599	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V	TMEM57_uc009vru.3_Missense_Mutation_p.A239V|TMEM57_uc009vrv.3_Missense_Mutation_p.A108V	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	466						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCAGGAAGCCCGAAGTTTT	0.428000														119			28		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77359766	77359766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:77359766C>T	uc002ffc.4	-	12	2448	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	ADAMTS18_uc010chc.1_Missense_Mutation_p.E265K|ADAMTS18_uc002ffe.1_Missense_Mutation_p.E373K	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	677	Cys-rich.				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						AAATTACCTTCCACTTTTGTA	0.373000														53			10		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126219690	126219690	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:126219690C>T	uc010hsi.2	-	11	1227	c.1173G>A	c.(1171-1173)acG>acA	p.T391T	UROC1_uc003eiz.2_Silent_p.T331T	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	331					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ACTCCCCCGTCGTGTCCAATT	0.647000														47			12		0	0	1	0	0
MLNR	2862	broad.mit.edu	37	13	49796481	49796481	+	Missense_Mutation	SNP	G	A	A	rs141878008		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:49796481G>A	uc010tgj.2	+	1	1207	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K		NM_001507	NP_001498	O43193	MTLR_HUMAN	Homo sapiens motilin receptor (MLNR), mRNA.	403					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GGGCTACACCGAGACAAGCGC	0.572000														20			4		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130765006	130765006	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:130765006G>A	uc003ysr.3	-	6	1664	c.782C>T	c.(781-783)tCa>tTa	p.S261L		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	261						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						ggtatgaaatgatggtagcaa	0.433000														80			7		0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117152902	117152902	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:117152902C>T	uc001pqt.3	+	10	1673	c.1628C>T	c.(1627-1629)tCt>tTt	p.S543F	RNF214_uc001pqu.3_Missense_Mutation_p.S543F|RNF214_uc010rxf.2_Missense_Mutation_p.S388F	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	543	Pro-rich.						zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GTTAAGGCTTCTGCTGAAACT	0.592000														201			28		0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135392938	135392938	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:135392938C>T	uc003vtb.3	-	2	978	c.289G>A	c.(289-291)Gct>Act	p.A97T	SLC13A4_uc003vta.3_Missense_Mutation_p.A97T	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	97						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TCCACGGCAGCCGCCACGCAG	0.612000														207			37		0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38877095	38877095	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38877095C>T	uc002oij.1	-	2	942	c.807G>A	c.(805-807)ggG>ggA	p.G269G	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.G186G	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Homo sapiens gametogenetin (GGN), mRNA.	269	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCCGCCGCCCCCCAGCGAAG	0.652000														44			17		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169525903	169525903	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169525903G>A	uc001ggg.1	-	5	1078	c.933C>T	c.(931-933)ctC>ctT	p.L311L	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	311	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTTTTGGGGTGAGAGAAGATA	0.478000														62			6		0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420567	11420567	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:11420567C>T	uc001qzs.3	-	2	654	c.616G>A	c.(616-618)Gga>Aga	p.G206R	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	206	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGGGTGGTCCTTCTGGCTTT	0.632000														400			30		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57347305	57347305	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57347305G>A	uc001cyo.2	+	4	784	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	218	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GTACCACTTTGAAGTAAGTCT	0.473000														85			36		0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156667159	156667159	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156667159C>T	uc003lwo.1	+	9	1021	c.939C>T	c.(937-939)ttC>ttT	p.F313F		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	313	SH2.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTATGTGTTCGATTCCATCC	0.458000			T	SYK	peripheral T-cell lymphoma									81			19		0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36995279	36995279	+	Silent	SNP	G	A	A	rs147433704		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:36995279G>A	uc010jwp.1	+	14	1851	c.1680G>A	c.(1678-1680)aaG>aaA	p.K560K	FGD2_uc003ong.2_Silent_p.K282K|FGD2_uc011dtv.1_Silent_p.K188K|FGD2_uc003onj.1_Silent_p.K137K	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	560	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGTGGGGCAAGAGCGGCCCCC	0.637000														133			27		0	0	1	0	0
SETD4	54093	broad.mit.edu	37	21	37412927	37412927	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:37412927G>A	uc002yuw.2	-	7	2383	c.1010C>T	c.(1009-1011)cCa>cTa	p.P337L	SETD4_uc021wiy.1_Missense_Mutation_p.P337L|SETD4_uc002yuu.3_Non-coding_Transcript|SETD4_uc002yux.2_Missense_Mutation_p.P313L	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	Homo sapiens SET domain containing 4 (SETD4), transcript variant 1, mRNA.	337				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).						autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CCTCCAAGATGGTCCATCCCA	0.383000														181			64		0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57496103	57496103	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57496103G>A	uc009zpg.3	-	12	1631	c.1629C>T	c.(1627-1629)caC>caT	p.H543H	STAT6_uc009zpe.3_Silent_p.H494H|STAT6_uc001sna.3_Silent_p.H494H|STAT6_uc009zpf.3_Silent_p.H494H|STAT6_uc010srb.2_Silent_p.H384H|STAT6_uc010src.2_Silent_p.H384H|STAT6_uc010srd.2_Silent_p.H384H	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	494	SH2.				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						ACACAGAACGGTGCTGGAAGG	0.597000														126			54		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45242109	45242109	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:45242109G>A	uc002xsf.2	-	1	407	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	SLC13A3_uc010ghn.2_Nonsense_Mutation_p.Q92*|SLC13A3_uc010zxx.2_Nonsense_Mutation_p.Q25*|SLC13A3_uc010zxw.2_Nonsense_Mutation_p.Q123*|SLC13A3_uc002xsg.2_Nonsense_Mutation_p.Q76*|SLC13A3_uc010gho.2_Nonsense_Mutation_p.Q76*|SLC13A3_uc002xsi.4_Nonsense_Mutation_p.Q76*	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	123						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CTGGCCGGCTGGACTCCAACA	0.562000														49			19		0	0	1	0	0
SECTM1	6398	broad.mit.edu	37	17	80282490	80282490	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:80282490C>T	uc002keo.3	-	2	769	c.371G>A	c.(370-372)aGa>aAa	p.R124K		NM_003004	NP_002995	Q8WVN6	SCTM1_HUMAN	Homo sapiens secreted and transmembrane 1 (SECTM1), mRNA.	124					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|extracellular space|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			TCTGTTATTTCTCTGGTGTCC	0.642000														54			20		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18729423	18729423	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:18729423C>T	uc003wza.3	-	2	1054	c.951G>A	c.(949-951)caG>caA	p.Q317Q		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	317					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTATAGGATGCTGGGTCTCTC	0.502000														136			52		0	0	1	0	0
DDAH1	23576	broad.mit.edu	37	1	85817238	85817238	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:85817238G>A	uc001dlb.3	-	2	589	c.428C>T	c.(427-429)tCc>tTc	p.S143F	DDAH1_uc001dlc.3_Missense_Mutation_p.S40F|LOC646626_uc001dla.2_Intron|DDAH1_uc010osb.2_Missense_Mutation_p.S43F|DDAH1_uc009wco.3_Missense_Mutation_p.S40F	NM_012137	NP_001127917	O94760	DDAH1_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 1 (DDAH1), transcript variant 1, mRNA.	143					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TGTCCTTTTGGAAAGGCCCAC	0.363000														105			12		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018525	161018525	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161018525C>T	uc001fxl.3	-	11	2632	c.2286G>A	c.(2284-2286)caG>caA	p.Q762Q	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Silent_p.Q608Q|ARHGAP30_uc009wtx.3_Silent_p.Q435Q	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	762	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CAGCTTCTACCTGGGCTTCCT	0.488000														304			38		0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21546459	21546459	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:21546459C>T	uc001bek.2	-	18	2377	c.2302G>A	c.(2302-2304)Gaa>Aaa	p.E768K	ECE1_uc001bem.2_Missense_Mutation_p.E752K|ECE1_uc001bej.2_Missense_Mutation_p.E756K|ECE1_uc001bei.2_Missense_Mutation_p.E765K|ECE1_uc010odl.1_Missense_Mutation_p.E736K	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	768					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TACCAGACTTCGCACTTGTGA	0.617000														54			23		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542092	55542092	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55542092G>A	uc003xsd.1	+	3	5798	c.5650G>A	c.(5650-5652)Gat>Aat	p.D1884N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1884					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTCTCTGATGATGCTATTAA	0.408000														80			30		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325516	150325516	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150325516C>T	uc022apv.1	-	2	860	c.380G>A	c.(379-381)gGa>gAa	p.G127E	GIMAP6_uc003whn.3_Missense_Mutation_p.G57E|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	57							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GATGCTGTTTCCTGTTGCACT	0.542000														356			132		0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202245709	202245709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:202245709G>A	uc002uyb.4	-	15	2748	c.2302C>T	c.(2302-2304)Cct>Tct	p.P768S		NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	768				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AGGGATTTAGGGAGAGGCTGG	0.512000														169			16		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153652232	153652232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153652232C>T	uc001fcs.4	+	0	1069	c.648C>T	c.(646-648)gaC>gaT	p.D216D	NPR1_uc010pdz.2_5'Flank	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	216					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TTACGGTGGACCACCTGGAGT	0.652000														10			4		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232120	117232120	+	Silent	SNP	C	T	T	rs121908777		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:117232120C>T	uc003vjd.3	+	13	2031	c.1899C>T	c.(1897-1899)ctC>ctT	p.L633L	CFTR_uc011knq.2_Silent_p.L39L	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	633	ABC transporter 1.		L -> P (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTCAGAACTCCAAAATCTAC	0.348000									Cystic Fibrosis					93			40		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55873040	55873040	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55873040G>A	uc003tqz.2	-	8	1147	c.1030C>T	c.(1030-1032)Caa>Taa	p.Q344*		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	344					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCTGACATTGATCATAGAAC	0.348000														28			12		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25457027	25457027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:25457027G>A	uc002wux.1	-	16	2974	c.2900C>T	c.(2899-2901)tCg>tTg	p.S967L	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	967					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	p.S967L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCCCCTGCACGAAGCGGCCGG	0.687000														56			10		0	0	1	0	0
SRSF5	6430	broad.mit.edu	37	14	70238135	70238135	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70238135C>T	uc001xll.3	+	8	2227	c.776C>T	c.(775-777)tCc>tTc	p.S259F	SRSF5_uc001xlo.3_Missense_Mutation_p.S259F|SRSF5_uc001xlp.3_Missense_Mutation_p.S259F	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	Homo sapiens serine/arginine-rich splicing factor 5 (SRSF5), transcript variant 2, mRNA.	259	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding|protein binding			large_intestine(1)|liver(1)	2						CGCCAGAGGTCCCGGTCCCGA	0.463000														151			60		0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187153312	187153312	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187153312C>A	uc003iyy.3	+	2	161	c.90C>A	c.(88-90)ttC>ttA	p.F30L	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_5'UTR	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	30	Apple 1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.F30C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AAAACGCCTTCTTCAGAGGTG	0.383000														117			50		3.28156e-27	3.30109e-27	1	1	0
GON4L	54856	broad.mit.edu	37	1	155774872	155774872	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155774872G>A	uc001flz.2	-	10	1610	c.1513C>T	c.(1513-1515)Ccc>Tcc	p.P505S	GON4L_uc001fly.1_Missense_Mutation_p.P505S|GON4L_uc009wrh.1_Missense_Mutation_p.P505S|GON4L_uc001fma.1_Missense_Mutation_p.P505S|GON4L_uc001fmc.3_Missense_Mutation_p.P505S|GON4L_uc001fmd.4_Missense_Mutation_p.P505S|GON4L_uc009wri.3_Missense_Mutation_p.P91S|GON4L_uc009wrj.2_Missense_Mutation_p.P20S|GON4L_uc001fme.3_Missense_Mutation_p.P333S|GON4L_uc001fmf.3_Missense_Mutation_p.P199S	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	505					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGGCCCAGGGGAACATCTTTC	0.498000														101			41		0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67694195	67694195	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67694195G>A	uc002etq.4	-	0	524	c.187C>T	c.(187-189)Ccg>Tcg	p.P63S	ACD_uc002etp.4_Missense_Mutation_p.P63S|ACD_uc002etr.4_Missense_Mutation_p.P63S|ACD_uc010vjt.1_Missense_Mutation_p.P53S|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	63					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.L62F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCTTTCCTCGGAAGAGGAAGC	0.741000														35			5		0	0	1	0	0
ABO	28	broad.mit.edu	37	9	136131706	136131706	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:136131706C>T	uc004cda.1	-	7	434	c.409G>A	c.(409-411)Gag>Aag	p.E137K	ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_5'UTR|ABO_uc010nag.1_5'UTR	NM_020469	NP_065202	P16442	BGAT_HUMAN	Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.	138					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AAGTGCTTCTCCGCCGTCTCC	0.692000														66			24		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234094533	234094533	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234094533G>A	uc010zmo.2	+	19	2386	c.2233G>A	c.(2233-2235)Ggg>Agg	p.G745R	INPP5D_uc010zmp.2_Missense_Mutation_p.G744R	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	774					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)		AGGAAGTGAGGGGGAGCTGGT	0.458000														23			7		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70555477	70555477	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:70555477G>A	uc001dep.3	+	22	4436	c.4406G>A	c.(4405-4407)gGa>gAa	p.G1469E	LRRC7_uc009wbg.3_Missense_Mutation_p.G753E|LRRC7_uc001deq.3_Missense_Mutation_p.G663E	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1469	PDZ.					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						AGTGGACAAGGAAATCCATTC	0.303000														77			23		0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15826515	15826515	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:15826515G>A	uc003gol.1	+	2	482	c.375G>A	c.(373-375)tgG>tgA	p.W125*	CD38_uc021xmk.1_Intron	NM_001775	NP_001766	P28907	CD38_HUMAN	Homo sapiens CD38 molecule (CD38), mRNA.	125					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	NAD+ nucleosidase activity|binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TTCTTCTTTGGAGCAGAATAA	0.388000														86			19		0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60183867	60183867	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60183867G>A	uc001npj.3	+	4	1991	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	MS4A14_uc001npi.3_Missense_Mutation_p.E364K|MS4A14_uc001npn.3_Missense_Mutation_p.E214K|MS4A14_uc001npk.3_Missense_Mutation_p.E459K|MS4A14_uc001npl.3_Missense_Mutation_p.E214K|MS4A14_uc001npm.3_Missense_Mutation_p.E214K	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	476	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ATCTGAGGAGGAACTCCATAG	0.383000														98			12		0	0	1	0	0
OR1L6	392390	broad.mit.edu	37	9	125512489	125512489	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125512489C>T	uc022bna.1	+	0	363	c.363C>T	c.(361-363)atC>atT	p.I121I		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						CTATGGCCATCGACCGGCTGG	0.527000														143			20		0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42739045	42739045	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42739045G>A	uc003clw.3	-	7	967	c.820C>T	c.(820-822)Ccc>Tcc	p.P274S	HHATL_uc003clx.3_Missense_Mutation_p.P274S	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	274					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		AGGTCGCTGGGGATAGTGAGG	0.612000														89			43		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22089606	22089606	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:22089606C>T	uc001rfh.3	-	0	23	c.3G>A	c.(1-3)atG>atA	p.M1I	ABCC9_uc001rfi.1_Missense_Mutation_p.M1I|ABCC9_uc001rfk.3_Missense_Mutation_p.M1I|ABCC9_uc001rfl.1_Missense_Mutation_p.M1I	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATGAAAGGCTCATTTCTTCTT	0.333000														58			23		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48528861	48528861	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48528861C>T	uc003toq.2	+	47	13235	c.13211C>T	c.(13210-13212)tCc>tTc	p.S4404F	ABCA13_uc010kys.1_Missense_Mutation_p.S1479F|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.S134F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4404					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGTTTTCATTCCCTACCTTCC	0.378000														21			10		0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143563058	143563058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:143563058C>T	uc003ywm.3	+	9	2299	c.2116C>T	c.(2116-2118)Cct>Tct	p.P706S		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	706					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGCCCCACCCCTGGGGACGT	0.607000														14			4		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947903	237947903	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:237947903C>T	uc001hyl.1	+	89	13011	c.12891C>T	c.(12889-12891)ttC>ttT	p.F4297F	RYR2_uc010pya.2_Silent_p.F712F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4297					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	p.V4296M(1)		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)			TCTTGCACTTCGTGGCCAGCG	0.463000														39			16		0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	314141	314141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:314141C>T	uc002cgf.3	+	10	1510	c.1315C>T	c.(1315-1317)Ctc>Ttc	p.L439F	LUC7L_uc021szo.1_Intron|ITFG3_uc002cgg.2_Missense_Mutation_p.L439F|ITFG3_uc010uud.1_Non-coding_Transcript|ITFG3_uc002cgh.3_Missense_Mutation_p.L439F	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	439						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CTTCTGGGGCCTCCACGAGCT	0.701000														19			4		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39672164	39672164	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:39672164C>T	uc021wjc.1	+	0	981	c.981C>T	c.(979-981)ttC>ttT	p.F327F	KCNJ15_uc002ywv.3_Silent_p.F327F|KCNJ15_uc002yww.3_Silent_p.F327F|KCNJ15_uc002ywx.3_Silent_p.F327F	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	327					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	p.D326Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TGGCTGATTTCAGTCAGTTTG	0.443000														69			25		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9333638	9333638	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:9333638G>A	uc001qvl.3	-	14	1809	c.1780C>T	c.(1780-1782)Cgt>Tgt	p.R594C	PZP_uc009zgl.3_Missense_Mutation_p.R463C	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCCACAGCACGAAGGGCACAG	0.587000														35			12		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027077	37027077	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:37027077C>T	uc004ddl.2	+	0	646	c.594C>T	c.(592-594)ctC>ctT	p.L198L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	198										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGTCCTGTCTCCCCCCGGAGC	0.642000														15			21		0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746540	158746540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158746540C>T	uc010pir.2	-	0	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTAATGATTTCCTTGTTACGA	0.408000														174			42		0	0	1	0	0
BTNL2	56244	broad.mit.edu	37	6	32370911	32370911	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32370911G>A	uc003obg.1	-	2	510	c.510C>T	c.(508-510)ttC>ttT	p.F170F	BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	170	Ig-like V-type 2.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GGGGCTCTGGGAACCAGCCCC	0.592000														29			6		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8591700	8591700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8591700C>T	uc002mkg.3	-	22	2732	c.2594G>A	c.(2593-2595)aGg>aAg	p.R865K		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	865						unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGGCAGGGGCCTCCGCGTCGC	0.672000														19			7		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10885926	10885926	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10885926G>A	uc003bvz.3	+	4	685	c.651G>A	c.(649-651)ggG>ggA	p.G217G		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	217					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.G217R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TCTCTGACGGGATCGAGCACA	0.587000														41			19		0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148855070	148855070	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:148855070C>T	uc003qme.1	+	14	2373	c.1898C>T	c.(1897-1899)cCc>cTc	p.P633L	SASH1_uc011eeb.1_Missense_Mutation_p.P394L|SASH1_uc003qmf.1_Missense_Mutation_p.P43L	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	633	SAM 1.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGACGACCACCCCAGCCCAAG	0.527000														43			12		0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70982076	70982076	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:70982076C>T	uc003xym.3	-	1	222	c.20G>A	c.(19-21)aGt>aAt	p.S7N		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CACGGCCTCACTTGGCCGGGG	0.687000														8			3		0	0	1	0	0
ZMYND12	84217	broad.mit.edu	37	1	42901011	42901011	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:42901011G>A	uc001chj.3	-	5	1033	c.763C>T	c.(763-765)Ctc>Ttc	p.L255F	ZMYND12_uc010ojt.2_Missense_Mutation_p.L145F	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN	Homo sapiens zinc finger, MYND-type containing 12 (ZMYND12), transcript variant 1, mRNA.	255						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCTGTGAGAGGACTTGATAG	0.473000														193			71		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43680245	43680245	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43680245C>T	uc002ovu.3	-	2	617	c.486G>A	c.(484-486)aaG>aaA	p.K162K	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.K162K	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	162	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CTAAGACATCCTTATTCTCCC	0.493000														262			92		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884842	23884842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23884842G>A	uc001wjx.3	-	34	5259	c.5153C>T	c.(5152-5154)tCc>tTc	p.S1718F		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1718					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTCACCTGGGAATGCAGCAG	0.597000														54			23		0	0	1	0	0
TM6SF1	53346	broad.mit.edu	37	15	83793490	83793490	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83793490C>T	uc002bjp.3	+	6	779	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	TM6SF1_uc010bmq.3_Missense_Mutation_p.L224F|TM6SF1_uc002bjq.3_Intron|TM6SF1_uc010bmr.3_Intron|TM6SF1_uc002bjr.3_Missense_Mutation_p.L76F	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA.	224						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GGTTGTGTGTCTCCTCCTGGC	0.398000														221			33		0	0	1	0	0
TCEAL2	140597	broad.mit.edu	37	X	101381827	101381827	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:101381827G>A	uc022car.1	+	0	25	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	TCEAL2_uc004eip.3_Missense_Mutation_p.E9K	NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 2 (TCEAL2), mRNA.	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						CAATGAAAATGAAGGAATGCC	0.463000														18			25		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1996226	1996226	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:1996226C>T	uc021qsx.1	-	6	1022	c.791G>A	c.(790-792)tGg>tAg	p.W264*	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	264						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.W264*(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ATCAGGTGTCCATTTTATACC	0.517000														11			3		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27728588	27728588	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27728588G>A	uc002rky.3	+	9	820	c.754G>A	c.(754-756)Gag>Aag	p.E252K	GCKR_uc010ezd.3_Missense_Mutation_p.E252K|GCKR_uc010ylu.2_Missense_Mutation_p.E62K	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	252	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TCTTCAGCCCGAGGGTCTCAG	0.542000														69			30		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52522226	52522226	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52522226C>T	uc003ded.4	+	15	2852	c.2718C>T	c.(2716-2718)atC>atT	p.I906I	NISCH_uc003dee.4_Silent_p.I395I|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	906					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCGCCGCCATCCCCTACTGGC	0.642000														68			21		0	0	1	0	0
CALB2	794	broad.mit.edu	37	16	71411594	71411594	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71411594G>A	uc002faa.4	+	3	366	c.286G>A	c.(286-288)Gag>Aag	p.E96K	CALB2_uc010vme.2_Non-coding_Transcript|CALB2_uc002fac.4_Missense_Mutation_p.E96K	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	96	EF-hand 2.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GCCAACCGAAGAGAACTTCCT	0.552000														71			21		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198585	20198585	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:20198585G>A	uc003sus.4	-	4	1708	c.1399C>T	c.(1399-1401)Cat>Tat	p.H467Y	MACC1_uc010kug.3_Missense_Mutation_p.H467Y	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	467					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AATTGTTGATGAACTACTTCA	0.358000														58			21		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36340552	36340552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36340552C>T	uc002oby.3	-	5	768	c.612G>A	c.(610-612)gtG>gtA	p.V204V		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	204	Ig-like C2-type 2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCGGGGTGTCACCCTGGGAT	0.552000														64			19		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5770965	5770965	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:5770965G>A	uc002mda.3	+	18	1706	c.1645G>A	c.(1645-1647)Gac>Aac	p.D549N	CATSPERD_uc010duj.1_Missense_Mutation_p.D207N	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	549						integral to membrane											GGAATTCTACGACCCCGGCTT	0.547000														72			30		0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839611	27839611	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:27839611G>A	uc022bud.1	+	0	188	c.188G>A	c.(187-189)gGa>gAa	p.G63E	MAGEB10_uc004dbw.3_Missense_Mutation_p.G63E	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	63								p.H62N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AATCCCCATGGACTTCGGGAA	0.498000														8			6		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480586	10480586	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10480586C>T	uc003wtc.3	-	1	355	c.126G>A	c.(124-126)ggG>ggA	p.G42G		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	42					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)		ACCGTGGATCCCCTCGCTTGA	0.652000														61			30		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79267429	79267429	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:79267429C>T	uc010mpk.3	-	10	8651	c.8527G>A	c.(8527-8529)Gaa>Aaa	p.E2843K	PRUNE2_uc011lsk.2_Missense_Mutation_p.E92K|PRUNE2_uc011lsl.2_Missense_Mutation_p.E107K|PRUNE2_uc011lsm.2_Missense_Mutation_p.E107K|PRUNE2_uc004akj.4_Missense_Mutation_p.E296K|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Missense_Mutation_p.E296K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2843					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAATCTGCTTCATCGGGGGTA	0.393000														220			56		0	0	1	0	0
ARHGDIG	398	broad.mit.edu	37	16	332780	332780	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:332780G>A	uc002cgm.1	+	5	719	c.644G>A	c.(643-645)tGg>tAg	p.W215*	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgn.1_5'UTR|PDIA2_uc002cgo.1_5'UTR|PDIA2_uc010bqt.1_5'UTR	NM_001176	NP_001167	Q99819	GDIR3_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) gamma (ARHGDIG), mRNA.	215					Rho protein signal transduction|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCCTGGGAGTGGGGTCTCTGC	0.652000											OREG0003697	type=REGULATORY REGION|Gene=PDIA2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		10			4		0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72857095	72857095	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:72857095G>A	uc003tyc.3	-	17	4406	c.4054C>T	c.(4054-4056)Ctc>Ttc	p.L1352F	BAZ1B_uc022afu.1_5'Flank	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	1352					ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ATCTTGTGGAGGATCTCTTCA	0.532000														58			21		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141215150	141215150	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141215150C>T	uc002tvj.1	-	60	10668	c.9696G>A	c.(9694-9696)ggG>ggA	p.G3232G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3232					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTTGGTTTTCCCATCAGTCC	0.428000										TSP Lung(27;0.18)				144			57		0	0	1	0	0
FBXW9	84261	broad.mit.edu	37	19	12802014	12802014	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12802014G>A	uc010dyx.2	-	4	819	c.819C>T	c.(817-819)acC>acT	p.T273T	FBXW9_uc010xmp.2_Non-coding_Transcript|FBXW9_uc002mum.1_Silent_p.T283T	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA.	283							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TCTTGTCATAGGTGCCAGTCA	0.607000														112			39		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43547729	43547729	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:43547729G>A	uc003tid.1	+	23	4471	c.3866_splice	c.e23+1	p.G1289_splice	HECW1_uc011kbi.1_Splice_Site_p.G1255_splice	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1289	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGGAGAGGAGGGGTGAGGCAC	0.532000														46			6		0	0	1	0	0
ANKRD29	147463	broad.mit.edu	37	18	21209887	21209887	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:21209887G>A	uc002kun.3	-	5	613	c.458C>T	c.(457-459)gCc>gTc	p.A153V	ANKRD29_uc002kuo.3_Missense_Mutation_p.A153V	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN	Homo sapiens ankyrin repeat domain 29 (ANKRD29), mRNA.	153										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACCACCTTGGGCAGCTAGGAA	0.438000														40			4		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47432804	47432804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:47432804C>T	uc002leb.2	-	18	2687	c.2399G>A	c.(2398-2400)gGa>gAa	p.G800E		NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	800	IQ 2.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.R799W(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGCCAGGTGTCCCCGGCAGTA	0.582000														48			8		0	0	1	0	0
GBE1	2632	broad.mit.edu	37	3	81699006	81699006	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:81699006G>A	uc021xav.1	-	3	778	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C	GBE1_uc021xax.1_Missense_Mutation_p.R125C	NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	166					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TCACCTTCACGAACCACATAC	0.333000									Glycogen Storage Disease, type IV					45			14		0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24930354	24930354	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:24930354C>T	uc002rfk.3	+	10	2274	c.2015C>T	c.(2014-2016)tCa>tTa	p.S672L	NCOA1_uc010eye.3_Missense_Mutation_p.S672L|NCOA1_uc002rfi.3_Missense_Mutation_p.S521L|NCOA1_uc002rfj.3_Missense_Mutation_p.S672L|NCOA1_uc002rfl.3_Missense_Mutation_p.S672L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	672	Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTAACTCTTCAGGAGGTTCT	0.488000			T	PAX3	alveolar rhadomyosarcoma									89			31		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1092130	1092130	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1092130G>A	uc001lsx.1	+	29	3976	c.3949G>A	c.(3949-3951)Ggc>Agc	p.G1317S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1317						inner mucus layer|outer mucus layer	protein binding	p.S1317I(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCCAGCAGTGGCAGCGACGA	0.592000														21			9		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48736725	48736725	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48736725G>A	uc002isl.3	+	6	882	c.802G>A	c.(802-804)Gca>Aca	p.A268T	ABCC3_uc002isk.4_Missense_Mutation_p.A268T	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	268					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AAAGCAGACGGCACGGTGAGG	0.622000														69			21		0	0	1	0	0
SUSD3	203328	broad.mit.edu	37	9	95847007	95847007	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:95847007C>T	uc004atb.3	+	4	782	c.746C>T	c.(745-747)cCc>cTc	p.P249L	SUSD3_uc004atc.3_Missense_Mutation_p.P236L	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN	Homo sapiens sushi domain containing 3 (SUSD3), mRNA.	249						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						CCACAACAGCCCGCAGCATAT	0.647000														80			26		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52540748	52540749	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52540748_52540749GG>AA	uc003dej.3	+	17	1945_1946	c.1871_1872GG>AA	c.(1870-1872)agg>aAA	p.R624K	STAB1_uc003dei.1_Missense_Mutation_p.R624K	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	624	FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCGCTGCAGAGGGTAGACGTGA	0.693000														22			5		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377921	77377921	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77377921C>T	uc004ajl.1	-	25	3904	c.3666G>A	c.(3664-3666)ctG>ctA	p.L1222L	TRPM6_uc004ajk.1_Silent_p.L1217L|TRPM6_uc022bib.1_Silent_p.L1217L|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.L178L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1222					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAAGGACTTTCAGGGTATCCA	0.473000														80			24		0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66083207	66083207	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66083207G>A	uc001ohm.1	-	0	1309	c.1292C>T	c.(1291-1293)cCc>cTc	p.P431L		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	431	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	ACTGAGCGGGGGTGGCCAGGT	0.657000														93			58		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48381938	48381938	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48381938C>T	uc001jez.3	-	3	3825	c.3711G>A	c.(3709-3711)gtG>gtA	p.V1237V		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	1237					lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGCTCCGCTTCACCCTCAGCT	0.647000														20			4		0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67223077	67223077	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67223077T>C	uc002erx.1	-	2	294	c.53A>G	c.(52-54)gAg>gGg	p.E18G	EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_5'UTR|EXOC3L1_uc010vje.1_Missense_Mutation_p.E18G|EXOC3L1_uc002ery.1_Missense_Mutation_p.E23G|E2F4_uc002erz.3_5'Flank	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA.	18	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTCTGGCCACTCAGGTCCTGG	0.597000														8			8		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11758700	11758700	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:11758700G>A	uc002rbk.1	+	21	3999	c.3699G>A	c.(3697-3699)gtG>gtA	p.V1233V	GREB1_uc002rbp.1_Silent_p.V231V	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1233						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCTCATCCGTGGCGCCCGCTG	0.672000														22			7		0	0	1	0	0
IGFBP4	3487	broad.mit.edu	37	17	38609376	38609376	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:38609376G>A	uc002hus.3	+	1	801	c.489G>A	c.(487-489)cgG>cgA	p.R163R		NM_001552	NP_001543	P22692	IBP4_HUMAN	Homo sapiens insulin-like growth factor binding protein 4 (IGFBP4), mRNA.	163					DNA metabolic process|signal transduction|skeletal system development					NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGGCGCCCCGGGAGGATGCCC	0.617000														16			16		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74542148	74542148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74542148C>T	uc002sko.1	-	0	5	c.3G>A	c.(1-3)atG>atA	p.M1I	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.M1I|SLC4A5_uc010ffc.1_Missense_Mutation_p.M1I|SLC4A5_uc002skp.1_Missense_Mutation_p.M1I|SLC4A5_uc002sks.1_Missense_Mutation_p.M1I	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	1						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCTTCACCTTCATGACTATAA	0.428000														156			66		0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118307871	118307871	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:118307871G>A	uc001lcm.3	+	4	245	c.202_splice	c.e4-1	p.E68_splice		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	68					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGTCTAAACAGGAAGTTGCCG	0.388000														112			43		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	156195	156195	+	Missense_Mutation	SNP	G	A	A	rs138938524		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156195G>A	uc003jak.2	+	7	1200	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	384					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.E384K(2)|p.E384*(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGAAGTCGCCGAGTTAATTGA	0.582000														75			13		0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183209732	183209732	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183209732C>T	uc003flr.3	-	6	1907	c.1849G>A	c.(1849-1851)Gga>Aga	p.G617R	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_Non-coding_Transcript	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	617										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GACACTGCTCCGGGCACGATC	0.662000														54			13		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6750866	6750866	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:6750866G>A	uc002wmu.1	+	1	878	c.93G>A	c.(91-93)agG>agA	p.R31R		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	31					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	TGGGCCGCAGGAAGTTCGCGG	0.692000														8			6		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41004453	41004453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41004453C>T	uc003jmj.4	-	36	4679	c.4189G>A	c.(4189-4191)Gaa>Aaa	p.E1397K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E952K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1397							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						CTTACATCTTCAAAGAAGGTC	0.458000														96			50		0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10242054	10242054	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10242054G>A	uc003bve.1	+	3	354	c.278_splice	c.e3-1	p.W93_splice		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	93	Death.				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|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TGTTTTCAGGGAAACCGGCTC	0.478000														145			42		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640458	104640458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:104640458C>T	uc003hxe.1	-	0	516	c.375G>A	c.(373-375)gtG>gtA	p.V125V		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	125						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AAGCCAGGTTCACAAGGAAGT	0.537000														57			19		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50534736	50534736	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:50534736G>A	uc001zxz.3	-	11	2052	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	HDC_uc001zxy.3_Silent_p.F313F|HDC_uc010uff.2_Silent_p.F537F	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	570					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.F570L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ACAAGTAACTGAACAGGAAGG	0.537000														152			53		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120430	94120430	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:94120430G>A	uc003poe.3	-	2	862	c.621C>T	c.(619-621)tcC>tcT	p.S207S	EPHA7_uc003pof.3_Silent_p.S207S|EPHA7_uc011eac.2_Silent_p.S207S|EPHA7_uc003pog.4_Silent_p.S207S	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	207	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.W206L(1)|p.S207F(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TCTCAATAATGGACCAGCACT	0.438000														55			5		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113166771	113166771	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113166771G>A	uc010mtz.3	-	38	9839	c.9502C>T	c.(9502-9504)Cgc>Tgc	p.R3168C	SVEP1_uc010mty.3_Missense_Mutation_p.R1094C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3168	Sushi 29.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGGAACCAGCGACCATCTTTC	0.413000														203			111		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171494075	171494075	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171494075C>T	uc010pmg.2	+	9	1431	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S	PRRC2C_uc001ghr.1_Missense_Mutation_p.P391S	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	389							protein C-terminus binding										AGCAAAAGTTCCCTATGGGAA	0.373000														30			8		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141116507	141116507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141116507G>A	uc002tvj.1	-	72	12112	c.11140C>T	c.(11140-11142)Ctt>Ttt	p.L3714F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3714	LDL-receptor class A 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L3714I(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATGGACAAAGAAATTTGACT	0.368000										TSP Lung(27;0.18)				84			35		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698394	17698394	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:17698394C>T	uc002rcl.1	-	0	1313	c.1289G>A	c.(1288-1290)tGg>tAg	p.W430*	RAD51AP2_uc010exn.1_Nonsense_Mutation_p.W421*	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	430										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TAGCCAATTCCATTTTTCTTC	0.289000														21			10		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540842	55540842	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55540842C>T	uc003xsd.1	+	3	4548	c.4400C>T	c.(4399-4401)tCt>tTt	p.S1467F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1467					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E1466*(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAATTGGAATCTTTTGAAGAA	0.378000														70			14		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34004285	34004285	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:34004285C>T	uc003oir.4	-	7	1965	c.1602G>A	c.(1600-1602)aaG>aaA	p.K534K	GRM4_uc011dsn.2_Silent_p.K487K|GRM4_uc010jvh.3_Silent_p.K534K|GRM4_uc010jvi.3_Silent_p.K226K|GRM4_uc003oio.3_Silent_p.K226K|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.K394K|GRM4_uc003oiq.3_Silent_p.K401K|GRM4_uc011dsm.2_Silent_p.K365K	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	534					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AAGGCATGCCCTTCACTGTCT	0.642000														47			18		0	0	1	0	0
TMEM150B	284417	broad.mit.edu	37	19	55824350	55824350	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55824350G>A	uc010esw.1	-	7	752	c.579C>T	c.(577-579)ttC>ttT	p.F193F	TMEM150B_uc010yfu.1_Silent_p.F193F|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	Homo sapiens transmembrane protein 150B (TMEM150B), mRNA.	193						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						CGAAGAGCGCGAACAGCAGCA	0.682000														34			11		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33998741	33998741	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:33998741G>A	uc001bxm.1	-	63	10257	c.10080C>T	c.(10078-10080)tcC>tcT	p.S3360S	CSMD2_uc001bxn.1_Silent_p.S3216S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3216						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTCCTGGCAGGAGTAGATGA	0.652000														27			11		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61828635	61828635	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61828635C>T	uc001jky.3	-	36	12342	c.12004G>A	c.(12004-12006)Gga>Aga	p.G4002R	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.	4002					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						CCACTAATTCCCTTAAAATAT	0.433000														146			65		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7572486	7572486	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:7572486G>A	uc003src.1	-	1	138	c.21C>T	c.(19-21)gtC>gtT	p.V7V	COL28A1_uc011jxe.1_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	7					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGAGATAGAAGACAAAATATC	0.348000														94			46		0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202457675	202457675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:202457675C>T	uc001gya.2	+	13	2015	c.1865C>T	c.(1864-1866)cCt>cTt	p.P622L	PPP1R12B_uc001gyb.1_5'UTR|PPP1R12B_uc001gyc.1_5'UTR	NM_002481	NP_002472	O60237	MYPT2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.	622					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TATCTGACTCCTGTACGGGAT	0.428000														21			4		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74082501	74082501	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:74082501G>A	uc021ulp.1	-	6	3732	c.3414C>T	c.(3412-3414)tcC>tcT	p.S1138S	ZNF516_uc002lmd.3_Intron	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	1138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGGCGTCTGCGGAGGTGGTAT	0.527000														16			6		0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4923295	4923295	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:4923295G>A	uc002gan.2	+	18	2028	c.1671G>A	c.(1669-1671)gtG>gtA	p.V557V		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	557	FHA.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						ATTCAGTGGTGGTCACTCTGG	0.527000														5			8		0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158472759	158472759	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:158472759G>A	uc011kwe.1	-	10	1184	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*	NCAPG2_uc010lqu.1_Nonsense_Mutation_p.R139*|NCAPG2_uc003wnx.1_Nonsense_Mutation_p.R347*|NCAPG2_uc003wnv.1_Nonsense_Mutation_p.R347*|NCAPG2_uc003wnw.1_Non-coding_Transcript	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	347					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GCATTTGATCGAACTTCAGAG	0.363000														114			14		0	0	1	0	0
CDK3	1018	broad.mit.edu	37	17	73998208	73998208	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73998208C>T	uc002jqg.4	+	5	2136	c.384C>T	c.(382-384)ccC>ccT	p.P128P	CDK3_uc010dgt.3_Silent_p.P100P	NM_001258	NP_001249	Q00526	CDK3_HUMAN	Homo sapiens cyclin-dependent kinase 3 (CDK3), mRNA.	100	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						CAGAGCTCCCCCTGCACCTCA	0.597000														56			20		0	0	1	0	0
FBXO2	26232	broad.mit.edu	37	1	11710068	11710068	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11710068G>A	uc009vna.3	-	2	946	c.455C>T	c.(454-456)cCt>cTt	p.P152L	FBXO2_uc001asj.3_Missense_Mutation_p.P152L|FBXO2_uc009vnb.1_Non-coding_Transcript	NM_012168	NP_036300	Q9UK22	FBX2_HUMAN	Homo sapiens F-box protein 2 (FBXO2), mRNA.	152	FBA.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|glycoprotein catabolic process	SCF ubiquitin ligase complex|cytosol|endoplasmic reticulum|membrane|microsome	sugar binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-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)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGTCTCCAGGCAGCTCCTC	0.612000														196			14		0	0	1	0	0
FBXO31	79791	broad.mit.edu	37	16	87377322	87377322	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:87377322G>A	uc002fjw.3	-	3	583	c.539C>T	c.(538-540)cCc>cTc	p.P180L	FBXO31_uc010vot.2_Missense_Mutation_p.P8L|FBXO31_uc002fjv.3_Missense_Mutation_p.P72L	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	Homo sapiens F-box protein 31 (FBXO31), mRNA.	180					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint	SCF ubiquitin ligase complex	cyclin binding	p.R179W(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		ATCGACGTGGGGGTCATGGGG	0.592000														62			10		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24187498	24187498	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24187498G>A	uc003xdy.3	+	11	1056	c.973_splice	c.e11-1	p.D325_splice	ADAM28_uc003xdx.3_Splice_Site_p.D325_splice|ADAM28_uc011kzz.2_Splice_Site_p.D92_splice|ADAM28_uc011laa.2_Splice_Site|ADAM28_uc010lua.3_Splice_Site_p.D12_splice	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	325	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATACCTTTAGGACCACAGCGA	0.408000														100			25		0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5867495	5867495	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:5867495C>T	uc002mdo.4	-	1	413	c.242G>A	c.(241-243)tGg>tAg	p.W81*	FUT5_uc010duo.3_Nonsense_Mutation_p.W81*|FUT5_uc021uno.1_Nonsense_Mutation_p.W81*	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	81					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						AGGCCACGTCCACAGCAGGAT	0.652000														59			17		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51759245	51759245	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51759245C>T	uc001ryk.2	-	3	1008	c.783G>A	c.(781-783)caG>caA	p.Q261Q	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Silent_p.Q261Q	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	261	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCACCTCCGCCTGTGCCACGC	0.672000														52			22		0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26672632	26672633	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26672632_26672633GG>AA	uc001bmd.4	-	1	666_667	c.516_517CC>TT	c.(514-519)taccga>taTTga	p.R173*		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 4.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CGTGTCACTCGGTATTCCTCGA	0.639000														14			3		0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113370	18113370	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:18113370C>T	uc021veh.1	+	0	1095	c.1095C>T	c.(1093-1095)acC>acT	p.T365T	KCNS3_uc002rcv.3_Silent_p.T365T|KCNS3_uc002rcw.3_Silent_p.T365T	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	365	Segment H5 (pore-forming) (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGTGGGCCACCATCAGCATGA	0.557000														69			29		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2573002	2573002	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:2573002C>T	uc002wgf.1	+	7	896	c.881C>T	c.(880-882)cCt>cTt	p.P294L	TMC2_uc002wgg.1_Missense_Mutation_p.P278L|TMC2_uc010zpw.1_Missense_Mutation_p.P126L|TMC2_uc010zpx.1_Missense_Mutation_p.P125L	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	294						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAGACAGTGCCTCGGGCTGAG	0.438000														142			17		0	0	1	0	0
THEM5	284486	broad.mit.edu	37	1	151820663	151820663	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151820663G>A	uc021oyw.1	-	3	702	c.570C>T	c.(568-570)ttC>ttT	p.F190F		NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	Homo sapiens thioesterase superfamily member 5 (THEM5), mRNA.	190							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTTACTTTTTGAACCTGATGT	0.562000														106			37		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182444	140182444	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140182444C>T	uc003lhf.2	+	0	1662	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.F554F	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	568	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.F554F(2)		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)			TGCAGGTGTTCGTGCTGGACG	0.687000														156			19		0	0	1	0	0
LIPJ	142910	broad.mit.edu	37	10	90356112	90356112	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:90356112C>T	uc001kff.3	+	6	829	c.515C>T	c.(514-516)tCc>tTc	p.S172F		NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN	Homo sapiens lipase, family member J (LIPJ), mRNA.	172					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		CCAGTTTTTTCCACAAAGTAC	0.254000														37			15		0	0	1	0	0
FAM55A	120400	broad.mit.edu	37	11	114393141	114393141	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:114393141C>T	uc001ppa.3	-	5	1184	c.767G>A	c.(766-768)tGg>tAg	p.W256*	FAM55A_uc010rxd.2_Nonsense_Mutation_p.W105*	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.	398						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		ATGTTTTTTCCATTGAATCTG	0.373000														83			37		0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94146881	94146881	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94146881C>T	uc003uni.4	+	1	370	c.143C>T	c.(142-144)tCg>tTg	p.S48L	CASD1_uc003unh.2_Missense_Mutation_p.S48L|CASD1_uc003unj.4_Missense_Mutation_p.S48L	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	48						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GGCAATGATTCGTGTGAATAC	0.338000														73			20		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183053786	183053786	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:183053786C>T	uc002uos.3	-	12	1258	c.1174_splice	c.e12-1	p.G392_splice	PDE1A_uc010zfp.1_Splice_Site_p.G288_splice|PDE1A_uc002uoq.1_Splice_Site_p.G392_splice|PDE1A_uc010zfq.1_Splice_Site_p.G392_splice|PDE1A_uc002uor.3_Splice_Site_p.G376_splice|PDE1A_uc002uou.3_Splice_Site_p.G358_splice	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	392	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.G392E(2)|p.G392V(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTCTTTATCTCCCTGGAGAAA	0.393000														101			41		0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39538306	39538306	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39538306C>T	uc002hwm.3	-	0	331	c.319G>A	c.(319-321)Gac>Aac	p.D107N		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	107	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GCCAGGCGGTCGTTCAGGAAC	0.612000														109			17		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209803966	209803966	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:209803966A>T	uc001hhg.3	-	7	1327	c.937T>A	c.(937-939)Tgc>Agc	p.C313S	LAMB3_uc009xco.3_Missense_Mutation_p.C313S|LAMB3_uc001hhh.3_Missense_Mutation_p.C313S|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Missense_Mutation_p.C249S	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	313	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTACTTTGGCATTCATGGGCG	0.617000														64			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179635143	179635143	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179635143C>T	uc021vsy.1	-	34	8601	c.8376G>A	c.(8374-8376)gtG>gtA	p.V2792V	TTN_uc021vsz.1_Silent_p.V2746V|TTN_uc021vta.1_Silent_p.V2746V|TTN_uc021vtb.1_Silent_p.V2746V|TTN_uc002unb.2_Silent_p.V2792V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2792							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)			ACTTACTCTCCACGTGCAGTC	0.438000														77			23		0	0	1	0	0
CSNK1D	1453	broad.mit.edu	37	17	80209291	80209291	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:80209291G>A	uc002kej.3	-	5	1186	c.849C>T	c.(847-849)tcC>tcT	p.S283S	CSNK1D_uc002kei.3_Silent_p.S283S|CSNK1D_uc010wvj.2_Silent_p.S80S|CSNK1D_uc010dil.3_Non-coding_Transcript|CSNK1D_uc002keh.3_Silent_p.S148S|CSNK1D_uc010dim.1_Silent_p.S80S	NM_001893	NP_001884	P48730	KC1D_HUMAN	Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA.	283					DNA repair|G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|circadian regulation of gene expression|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CGTAGTCATAGGAGAAGCCCT	0.532000														40			12		0	0	1	0	0
C20orf96	140680	broad.mit.edu	37	20	257964	257964	+	Missense_Mutation	SNP	T	C	C	rs144025240		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:257964T>C	uc002wde.2	-	6	794	c.626A>G	c.(625-627)aAc>aGc	p.N209S	C20orf96_uc021vzl.1_Missense_Mutation_p.N208S|C20orf96_uc010zpi.2_Missense_Mutation_p.N156S|C20orf96_uc010zpj.1_Missense_Mutation_p.N174S|C20orf96_uc010zpk.2_Missense_Mutation_p.N147S	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	Homo sapiens chromosome 20 open reading frame 96 (C20orf96), transcript variant 1, mRNA.	209										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCTCAGGAAGTTCACTTCCTC	0.537000														209			90		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39062705	39062705	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39062705C>T	uc002oit.3	+	94	13923	c.13793C>T	c.(13792-13794)gCt>gTt	p.A4598V	RYR1_uc002oiu.3_Missense_Mutation_p.A4593V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4598					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCTCAGCTGCTGGGGATGTG	0.602000														71			35		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800631	27800631	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27800631C>T	uc002rkz.4	+	0	1243	c.1192C>T	c.(1192-1194)Caa>Taa	p.Q398*		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	398										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTTAGGACATCAAGTCCCAGA	0.438000														71			37		0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89660999	89660999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:89660999C>T	uc001dnb.3	-	2	460	c.344G>A	c.(343-345)gGc>gAc	p.G115D		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	115						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		ATCGCCCAGGCCCTCGGTGTC	0.512000														81			32		0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570398	22570398	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:22570398C>T	uc003nds.3	+	0	721	c.594C>T	c.(592-594)ctC>ctT	p.L198L		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA.	198	Glu-rich.			L -> P (in Ref. 1; BAB71292).						kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					GTCCGTTCCTCGTGGCGGTGG	0.746000														6			3		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655306	46655306	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:46655306C>T	uc003bhh.3	-	0	3914	c.3914G>A	c.(3913-3915)cGa>cAa	p.R1305Q		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1305	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCTAGGCGATCGACCCTCGTT	0.453000														105			16		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13882840	13882840	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13882840G>A	uc003jfd.2	-	20	3301	c.3259C>T	c.(3259-3261)Caa>Taa	p.Q1087*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1087	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)					CATTTACCTTGAAGTTCATTT	0.303000									Kartagener syndrome					46			6		0	0	1	0	0
C2orf42	54980	broad.mit.edu	37	2	70387902	70387902	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:70387902G>A	uc002sgh.3	-	8	1699	c.1371C>T	c.(1369-1371)acC>acT	p.T457T		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	457										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TAAAGCTACGGGTGATTTCCA	0.403000														45			17		0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46950876	46950876	+	Missense_Mutation	SNP	G	A	A	rs56138890		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46950876G>A	uc002zhl.2	-	3	1112	c.959C>T	c.(958-960)aCg>aTg	p.T320M	SLC19A1_uc010gpy.1_Missense_Mutation_p.T320M|SLC19A1_uc011aft.2_Missense_Mutation_p.T280M|SLC19A1_uc002zhm.2_Missense_Mutation_p.T320M|SLC19A1_uc010gpz.2_Missense_Mutation_p.T199M	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	320					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GGCGAAGGACGTGATGGCGCC	0.701000														14			5		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906819	13906819	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:13906819G>A	uc001rbt.2	-	2	621	c.442C>T	c.(442-444)Cca>Tca	p.P148S		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	148					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCAATTGATGGGCCAAACTGG	0.398000														45			5		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159170712	159170712	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159170712G>A	uc001ftl.2	+	8	1376	c.1197G>A	c.(1195-1197)taG>taA	p.*399*	CADM3_uc001ftk.2_Silent_p.*433*|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	0					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)					ATTTCATCTAGAGGCGCCTGC	0.642000														63			7		0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75203197	75203197	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:75203197G>A	uc003uds.2	-	7	659	c.614C>T	c.(613-615)tCc>tTc	p.S205F	HIP1_uc011kfz.2_Missense_Mutation_p.S205F	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	205					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CATGTCCAGGGAGTTGAATAC	0.572000			T	PDGFRB	CMML									30			14		0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19516253	19516253	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:19516253C>T	uc003zoa.2	-	9	2037	c.1884G>A	c.(1882-1884)atG>atA	p.M628I	SLC24A2_uc003zob.2_Missense_Mutation_p.M611I	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	628					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GGATTTTGTTCATTCGCCACT	0.502000														88			60		0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40277264	40277264	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:40277264G>A	uc022acd.1	+	6	560	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	C7orf10_uc003thn.2_Missense_Mutation_p.R179Q|C7orf10_uc003tho.2_Missense_Mutation_p.R179Q	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	179							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ATTTCTCAGCGAGCTGGTTAT	0.433000														55			26		0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45204610	45204610	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:45204610T>G	uc001myo.3	+	4	773	c.524T>G	c.(523-525)aTc>aGc	p.I175S		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	175	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AAGGGCCACATCTTCGGCCCC	0.597000											OREG0020926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			8		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31463235	31463235	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:31463235G>A	uc010dmi.3	-	9	1994	c.1696C>T	c.(1696-1698)Cta>Tta	p.L566L	NOL4_uc010xbs.2_Silent_p.L281L|NOL4_uc002kxr.4_Silent_p.L338L|NOL4_uc010xbt.2_Silent_p.L492L|NOL4_uc010dmh.3_Silent_p.L428L|NOL4_uc010xbu.2_Silent_p.L502L|NOL4_uc002kxt.4_Silent_p.L464L	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	566						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						TTCAGATTTAGCAGACCCCCT	0.393000														194			80		0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230746	56230746	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56230746G>A	uc010rjj.2	-	0	132	c.132C>T	c.(130-132)atC>atT	p.I44I	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TAATCAAAATGATCATACCAA	0.473000														47			16		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93982115	93982115	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:93982115C>T	uc003poe.3	-	5	1591	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	EPHA7_uc003pof.3_Missense_Mutation_p.M450I|EPHA7_uc011eac.2_Missense_Mutation_p.M450I	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	450	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTCTCTCCTTCATTACTCCAC	0.438000														56			57		0	0	1	0	0
C1orf114	57821	broad.mit.edu	37	1	169388371	169388371	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169388371C>T	uc001gga.1	-	3	1263	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	C1orf114_uc001gfz.1_Silent_p.E365E|C1orf114_uc009wvq.1_Silent_p.E365E|C1orf114_uc001ggb.3_Silent_p.E365E	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	365										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TTTTTTCTTTCTCTTCTTCTA	0.323000														58			5		0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239751	21239751	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21239751G>A	uc010mis.3	-	0	228	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S	IFNA14_uc003zoo.1_Non-coding_Transcript	NM_002172	NP_002163	P01570	IFN14_HUMAN	Homo sapiens interferon, alpha 14 (IFNA14), mRNA.	62					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCCTCCTGGGGAAATTCAAAG	0.468000														106			67		0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50154532	50154532	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50154532C>T	uc002poq.3	+	6	1010	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	296					RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GAGCATCAGCCGCATCTCGGA	0.642000														23			14		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433089	104433089	+	Silent	SNP	G	A	A	rs143230604	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104433089G>A	uc004bbp.2	-	2	2206	c.1605C>T	c.(1603-1605)ggC>ggT	p.G535G	GRIN3A_uc004bbq.1_Silent_p.G535G	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	535					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CAGGGCACAAGCCTTCATCAT	0.473000														55			34		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70064186	70064186	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:70064186C>T	uc010kak.3	+	25	3797	c.3521C>T	c.(3520-3522)tCg>tTg	p.S1174L	BAI3_uc003pev.4_Missense_Mutation_p.S1174L|BAI3_uc011dxx.2_Missense_Mutation_p.S380L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1174	Poly-Ser.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1174S(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCAGATTCTTCGAGTTCGTTT	0.393000														68			61		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20337703	20337703	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20337703G>A	uc002dgv.3	-	1	134	c.51C>T	c.(49-51)gcC>gcT	p.A17A	GP2_uc002dgw.3_Silent_p.A17A|GP2_uc002dgx.3_Silent_p.A17A|GP2_uc002dgy.3_Silent_p.A17A	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	17						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGAGACCAAGGCCAGCCACA	0.532000														46			18		0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910131	35910131	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35910131C>T	uc003jjt.1	-	3	457	c.362G>A	c.(361-363)aGa>aAa	p.R121K	CAPSL_uc003jju.1_Missense_Mutation_p.R121K	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	121	EF-hand 3.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GTCTAACTTTCTAAAAGCTTG	0.378000														96			29		0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159166008	159166008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:159166008C>T	uc002tzq.3	-	8	1361	c.1047G>A	c.(1045-1047)atG>atA	p.M349I	CCDC148_uc002tzr.3_Missense_Mutation_p.M197I|CCDC148_uc010foh.3_Missense_Mutation_p.M62I|CCDC148_uc010fok.2_Missense_Mutation_p.M263I|CCDC148_uc010foi.2_Missense_Mutation_p.M296I|CCDC148_uc010foj.2_Missense_Mutation_p.M197I	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	349										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ACATGCTCTCCATTTCATGTG	0.403000														77			9		0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2842728	2842728	+	Silent	SNP	C	T	T	rs141872607		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:2842728C>T	uc002whe.3	+	10	1071	c.1023C>T	c.(1021-1023)gcC>gcT	p.A341A	PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Intron|VPS16_uc002whg.3_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	341					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome		p.A341A(2)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TCAAAATTGCCTCAATGGCCC	0.597000														18			13		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103654	53103654	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:53103654G>A	uc003tpz.3	+	0	306	c.290G>A	c.(289-291)tGg>tAg	p.W97*		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	97								p.G96G(1)|p.G96D(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCCGAGGGCTGGAGGCGCCCT	0.711000														22			14		0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131924381	131924381	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:131924381C>T	uc003kxi.3	+	7	1455	c.1054C>T	c.(1054-1056)Cgt>Tgt	p.R352C	RAD50_uc003kxh.3_Missense_Mutation_p.R213C	NM_005732	NP_005723	Q92878	RAD50_HUMAN	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.	352					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTAAAAGGTCGTCTACAGCT	0.368000								Homologous recombination						25			33		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815131	106815131	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:106815131G>A	uc003ymd.3	+	7	2844	c.2821G>A	c.(2821-2823)Ggc>Agc	p.G941S	ZFPM2_uc011lhs.2_Missense_Mutation_p.G672S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	941					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AACCCTGCAAGGCTTGAAGGT	0.408000														28			10		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90249169	90249169	+	RNA	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:90249169C>A	uc010yts.2	+	39		c.5004C>A								Parts of antibodies, mostly variable regions.																		GACAGAGTCACCATCACTTGC	0.473000														188			45		4.75955e-12	4.77857e-12	1	1	0
BRCA2	675	broad.mit.edu	37	13	32907432	32907432	+	Missense_Mutation	SNP	C	T	T	rs80358469		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:32907432C>T	uc001uub.1	+	9	2044	c.1817C>T	c.(1816-1818)cCg>cTg	p.P606L	BRCA2_uc001uua.1_Missense_Mutation_p.P483L	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	606					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding	p.I605fs*11(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAAAATACCGAAAGACCAA	0.318000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				57			18		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059419	248059419	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248059419C>T	uc010pzb.2	+	0	531	c.531C>T	c.(529-531)ttC>ttT	p.F177F	OR2W3_uc001idp.1_Silent_p.F177F	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGACCACTTCCTGCGTGAGA	0.647000														94			18		0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461804	11461804	+	Missense_Mutation	SNP	C	T	T	rs150367358	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:11461804C>T	uc001qzf.1	-	2	147	c.113G>A	c.(112-114)gGa>gAa	p.G38E	PRB4_uc001qzt.3_Missense_Mutation_p.G38E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	38	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			LISGKPEGR -> IIPPKPPG (in Ref. 5; AA sequence).		extracellular region		p.E37E(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGGGCGTCGTCCTTCTGGCTT	0.537000										HNSCC(22;0.051)				279			31		0	0	1	0	0
LCN9	392399	broad.mit.edu	37	9	138555222	138555222	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:138555222G>A	uc004cgk.1	+	0	55	c.55G>A	c.(55-57)Gat>Aat	p.D19N		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	Homo sapiens lipocalin 9 (LCN9), mRNA.	19						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		CCAGGAGTTCGATCCCCACAC	0.627000														56			14		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113208245	113208245	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113208245G>A	uc010mtz.3	-	25	4672	c.4335C>T	c.(4333-4335)ctC>ctT	p.L1445L	SVEP1_uc010mua.1_Silent_p.L1445L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1445	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.M1444L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAGAGATGGGAGCATGCCAT	0.438000														45			13		0	0	1	0	0
CYTL1	54360	broad.mit.edu	37	4	5021056	5021056	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:5021056G>A	uc003gig.3	-	0	142	c.117C>T	c.(115-117)acC>acT	p.T39T		NM_018659	NP_061129	Q9NRR1	CYTL1_HUMAN	Homo sapiens cytokine-like 1 (CYTL1), mRNA.	39					signal transduction	extracellular space|soluble fraction	receptor binding			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TGAAGTCGCGGGTGATCTCCT	0.692000														14			6		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123145750	123145750	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:123145750C>T	uc003ieh.3	+	20	2756	c.2711C>T	c.(2710-2712)cCt>cTt	p.P904L	KIAA1109_uc003iei.1_Missense_Mutation_p.P657L|KIAA1109_uc010ins.1_Missense_Mutation_p.P247L|KIAA1109_uc003iej.1_Missense_Mutation_p.P289L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	904					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.P904P(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GAAGGTCTTCCTTTGGGAAGC	0.493000														48			20		0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118753046	118753046	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:118753046G>A	uc002tlj.3	-	5	663	c.495C>T	c.(493-495)gcC>gcT	p.A165A	CCDC93_uc010fld.2_Silent_p.A221A	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	165										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTGTCTTGATGGCCTTTTCTT	0.433000														99			37		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78571017	78571017	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:78571017C>T	uc001syp.3	+	26	5394	c.5221C>T	c.(5221-5223)Ccg>Tcg	p.P1741S	NAV3_uc001syo.3_Missense_Mutation_p.P1741S|NAV3_uc010sub.2_Missense_Mutation_p.P1220S|NAV3_uc009zsf.3_Missense_Mutation_p.P572S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1741						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						TTCATCCCTTCCGGCATCCCC	0.473000										HNSCC(70;0.22)				129			48		0	0	1	0	0
CTSL2	1515	broad.mit.edu	37	9	99800315	99800315	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:99800315G>A	uc010msi.3	-	1	218	c.11C>T	c.(10-12)tCg>tTg	p.S4L	CTSL2_uc004awt.3_Missense_Mutation_p.S4L|CTSL2_uc004awu.3_5'UTR|CTSL2_uc010msj.2_5'UTR|CTSL2_uc010msk.3_5'UTR	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	4						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				CAGGACGAGCGAAAGATTCAT	0.413000														64			23		0	0	1	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37964342	37964343	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37964342_37964343CC>TT	uc003asz.4	+	2	1094_1095	c.691_692CC>TT	c.(691-693)ccc>TTc	p.P231F		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	231	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding	p.P231P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CGCTGCAAACCCCCCAGCCCCT	0.668000														33			12		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82836319	82836319	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:82836319C>T	uc003kii.3	+	7	7853	c.7497C>T	c.(7495-7497)tcC>tcT	p.S2499S	VCAN_uc003kij.3_Silent_p.S1512S|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.S1163S	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2499	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACAAAAGCTCCCCTGATCCAA	0.463000														76			12		0	0	1	0	0
GBP1P1	400759	broad.mit.edu	37	1	89889957	89889957	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:89889957G>A	uc009wcy.1	+	4		c.698G>A								Homo sapiens guanylate binding protein 1, interferon-inducible pseudogene 1 (GBP1P1), non-coding RNA.																		GATGGAGAGCGACAGGGTCCA	0.443000														354			99		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982370	61982370	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61982370C>T	uc002yes.2	-	4	571	c.393G>A	c.(391-393)ggG>ggA	p.G131G	CHRNA4_uc002yet.1_5'UTR|CHRNA4_uc010gke.1_Silent_p.G60G|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	131					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CCGCGAAGTCCCCGTCAGCAC	0.652000														35			6		0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832841	113832841	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113832841G>A	uc002tiu.3	+	4	434	c.359G>A	c.(358-360)tGg>tAg	p.W120*	IL1F10_uc002tiv.3_Nonsense_Mutation_p.W120*|IL1F10_uc002tiw.3_Nonsense_Mutation_p.W112*	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	120						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						TGGCCTGGCTGGTTCCTGTGT	0.592000														147			37		0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69622482	69622482	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:69622482A>T	uc004dyg.3	+	22	2699	c.2556A>T	c.(2554-2556)caA>caT	p.Q852H	KIF4A_uc010nkw.3_Missense_Mutation_p.Q852H	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	852	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GACCAAAACAACGCTGGGAGA	0.468000														17			14		0	0	1	0	0
SP3	6670	broad.mit.edu	37	2	174783444	174783444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:174783444G>A	uc002uig.3	-	4	2240	c.1709C>T	c.(1708-1710)aCc>aTc	p.T570I	SP3_uc002uie.3_Missense_Mutation_p.T502I|SP3_uc002uif.3_Missense_Mutation_p.T517I|SP3_uc010zel.2_Missense_Mutation_p.T567I	NM_003111	NP_003102	Q02447	SP3_HUMAN	Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.	570	Repressor domain.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TAGGTCATTGGTATTCAAGGT	0.428000														113			44		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91755509	91755509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:91755509G>A	uc010aty.3	-	24	4535	c.4381C>T	c.(4381-4383)Ccc>Tcc	p.P1461S		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1461					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCCAGTGCGGGGGTGTCGGGG	0.697000														54			29		0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161049422	161049422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161049422G>A	uc001fxo.2	-	1	696	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	133	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGCCGGCGGGGAAGGTGCTG	0.701000														18			11		0	0	1	0	0
GRTP1	79774	broad.mit.edu	37	13	114009781	114009781	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:114009781C>T	uc010tkc.2	-	2	294	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	GRTP1_uc001vtn.3_Missense_Mutation_p.R66Q|GRTP1_uc010tkb.2_5'UTR|GRTP1_uc010agv.1_Non-coding_Transcript	NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	Homo sapiens growth hormone regulated TBC protein 1 (GRTP1), mRNA.	66						intracellular	Rab GTPase activator activity	p.R66W(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GACCCCTTTCCGGACATAGCG	0.657000														25			3		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121957874	121957874	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:121957874G>A	uc003idq.1	-	3	1779	c.1252C>T	c.(1252-1254)Ctc>Ttc	p.L418F		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	418										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGTCGAACGAGGTATTTAGCT	0.423000														160			66		0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170573	90170573	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:90170573G>A	uc003hsm.1	-	1	1208	c.689C>T	c.(688-690)tCt>tTt	p.S230F	GPRIN3_uc021xqb.1_Missense_Mutation_p.S230F	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	230										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CCTCATTTCAGAGTCACAGAT	0.547000														52			22		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73615396	73615396	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:73615396C>T	uc002avp.3	-	7	4032	c.3038G>A	c.(3037-3039)gGg>gAg	p.G1013E		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	1013	Pro-rich.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGGGGAAGCCCCCCCAGAGGC	0.711000														9			5		0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801565	9801565	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9801565G>A	uc021uop.1	-	5	1260	c.614C>T	c.(613-615)tCc>tTc	p.S205F	ZNF812_uc010xkx.2_Missense_Mutation_p.S101F	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TAGGTGTGAGGAATGAGTGAT	0.368000														19			12		0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9799447	9799447	+	Silent	SNP	C	T	T	rs141116659		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:9799447C>T	uc003bst.3	-	10	1181	c.996G>A	c.(994-996)gcG>gcA	p.A332A	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_Silent_p.A106A|AX748417_uc003bsv.1_5'Flank	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	332					cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CCCCATGGCTCGCCGTCTGCC	0.652000														72			25		0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131600089	131600089	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131600089G>A	uc004bwh.3	-	5	627	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S	CCBL1_uc004bwg.3_Non-coding_Transcript|CCBL1_uc010myn.3_Missense_Mutation_p.P148S|CCBL1_uc004bwj.3_Missense_Mutation_p.P98S|CCBL1_uc004bwi.3_Non-coding_Transcript|CCBL1_uc011mbl.2_Missense_Mutation_p.P242S	NM_004059	NP_004050	Q16773	KAT1_HUMAN	Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA.	148					L-phenylalanine catabolic process|kynurenine metabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding	p.P148L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	TTCTGGATGGGACCCTGCAAG	0.582000														61			5		0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112648052	112648052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:112648052G>A	uc003dzj.1	-	3	738	c.505C>T	c.(505-507)Cac>Tac	p.H169Y	CD200R1_uc003dzk.1_Missense_Mutation_p.H146Y|CD200R1_uc011bhx.1_Missense_Mutation_p.H124Y|CD200R1_uc003dzl.1_Missense_Mutation_p.H169Y|CD200R1_uc003dzm.1_Missense_Mutation_p.H146Y	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.	146	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						ACTTGGAGGTGATATCCACGA	0.418000														107			20		0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124007847	124007847	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124007847C>T	uc001pzu.3	+	14	1960	c.1751C>T	c.(1750-1752)tCc>tTc	p.S584F	VWA5A_uc001pzt.3_Missense_Mutation_p.S584F	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	584										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GTCATAAGCTCCTTCACAGCT	0.502000														60			17		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202404	56202404	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:56202404G>A	uc002lhj.4	-	4	5229	c.5015C>T	c.(5014-5016)cCa>cTa	p.P1672L	ALPK2_uc002lhk.1_Missense_Mutation_p.P1003L	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1672							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTTTGACATGGATCCTGCAG	0.532000														111			21		0	0	1	0	0
DGCR6L	85359	broad.mit.edu	37	22	20302783	20302783	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:20302783G>A	uc010gsc.3	-	3	706	c.589C>T	c.(589-591)Cct>Tct	p.P197S	DGCR6L_uc002zrx.3_Intron|DGCR6L_uc010gsb.3_Intron			Q9BY27	DGC6L_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 6-like (DGCR6L), mRNA.	0						nucleus				endometrium(1)|kidney(1)|lung(2)|stomach(1)	5	Colorectal(54;0.0993)					GGCTCCCCAGGGACCAGCAGT	0.622000														8			3		0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801997	67801997	+	Silent	SNP	G	A	A	rs138108492	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:67801997G>A	uc001vik.3	-	1	1268	c.576C>T	c.(574-576)atC>atT	p.I192I	PCDH9_uc001vil.3_Silent_p.I192I|PCDH9_uc010thl.2_Silent_p.I192I|PCDH9_uc001vin.3_Silent_p.I192I	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	192	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GAGTTTCCACGATATCCAGTC	0.428000														166			53		0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171700565	171700565	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:171700565G>A	uc002ugi.3	+	6	1071	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K		NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	217					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.Y216*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTTTACATATGAAATTGCACC	0.358000														59			18		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110439377	110439377	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110439377C>T	uc003yne.3	+	24	3096	c.2992C>T	c.(2992-2994)Ctt>Ttt	p.L998F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	998					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			AAAGCAGAATCTTCTACAGGT	0.473000										HNSCC(38;0.096)				20			12		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43984301	43984301	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:43984301G>A	uc010yny.2	+	25	3922	c.3839G>A	c.(3838-3840)gGg>gAg	p.G1280E		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	1280	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACTCCAGCAGGGCATGTTACC	0.343000														89			36		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94224659	94224659	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:94224659G>A	uc003kkx.2	-	11	1858	c.1858C>T	c.(1858-1860)Cac>Tac	p.H620Y	MCTP1_uc003kkv.2_Missense_Mutation_p.H399Y|MCTP1_uc003kkw.2_Missense_Mutation_p.H353Y|MCTP1_uc003kkz.2_Missense_Mutation_p.H281Y|MCTP1_uc003kku.2_Missense_Mutation_p.H136Y	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	620	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.H620Q(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTCAGGTTGTGAAATATCCTC	0.433000														75			37		0	0	1	0	0
FADS6	283985	broad.mit.edu	37	17	72878706	72878706	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72878706G>A	uc002jmd.1	-	2	504	c.492C>T	c.(490-492)ttC>ttT	p.F164F	FADS6_uc010wrn.1_Missense_Mutation_p.S81F	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.	170					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					AAGGAGCAAGGAACATGTAGA	0.612000														16			6		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19753537	19753537	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19753537C>T	uc009zzj.3	-	1	275	c.170G>A	c.(169-171)gGa>gAa	p.G57E		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	57					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTTGCCAGCTCCAGTCTCACT	0.562000														108			29		0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4544371	4544371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4544371C>T	uc010dud.2	-	16	2171	c.1909G>A	c.(1909-1911)Gag>Aag	p.E637K	SEMA6B_uc010xih.1_Intron	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	637					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGATGGCCTCCTTGTCCTTG	0.776000														9			6		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128643385	128643385	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:128643385C>T	uc003qbk.3	-	2	661	c.294G>A	c.(292-294)atG>atA	p.M98I	PTPRK_uc010kfc.3_Missense_Mutation_p.M98I|PTPRK_uc003qbj.3_Missense_Mutation_p.M98I|PTPRK_uc011ebu.2_Missense_Mutation_p.M98I|PTPRK_uc003qbl.1_Intron|PTPRK_uc011ebv.1_Missense_Mutation_p.M98I|PTPRK_uc003qbm.4_Missense_Mutation_p.M27I	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	98	MAM.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CGTTCTCCTTCATTGTAGGCA	0.388000														73			75		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179432393	179432393	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179432393C>T	uc021vsy.1	-	274	70987	c.70762G>A	c.(70762-70764)Gat>Aat	p.D23588N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D17283N|TTN_uc021vta.1_Missense_Mutation_p.D17216N|TTN_uc021vtb.1_Missense_Mutation_p.D17091N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24515	Fibronectin type-III 71.						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)			TATCTTTGATCTTCAGTAAGA	0.398000														50			20		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26219491	26219491	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26219491G>A	uc003abz.1	+	12	2791	c.2541G>A	c.(2539-2541)atG>atA	p.M847I	MYO18B_uc003aca.1_Missense_Mutation_p.M728I|MYO18B_uc010guy.1_Missense_Mutation_p.M728I|MYO18B_uc010guz.1_Missense_Mutation_p.M728I|MYO18B_uc011aka.1_Missense_Mutation_p.M1I|MYO18B_uc011akb.1_Missense_Mutation_p.M360I	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	847	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						AGCAGTTCATGAGGTTTGAGT	0.577000														52			22		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24884069	24884069	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:24884069G>A	uc001isb.2	-	19	4250	c.3763C>T	c.(3763-3765)Cgt>Tgt	p.R1255C	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1254	Rho-GAP.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTTTTCAGACGATCTAGAGGA	0.303000														49			19		0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108313328	108313328	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:108313328C>T	uc001dvk.1	-	5	632	c.578G>A	c.(577-579)cGa>cAa	p.R193Q	VAV3_uc010ouw.1_Missense_Mutation_p.R193Q|VAV3_uc001dvl.1_Missense_Mutation_p.R17Q|VAV3_uc010oux.1_Missense_Mutation_p.R193Q	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	193	DH.				B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding	p.R193Q(4)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ACAACAACTTCGTATATCATT	0.299000														132			30		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	650775	650775	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:650775G>A	uc003gap.3	+	8	1273	c.1220G>A	c.(1219-1221)gGg>gAg	p.G407E	PDE6B_uc003gao.4_Missense_Mutation_p.G407E|PDE6B_uc011buy.2_Missense_Mutation_p.G128E|BC020343_uc003gaq.1_5'Flank	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	407	GAF 2.				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						AGGAAAGACGGGAAGCCCTTT	0.587000														51			26		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234549	21234550	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21234549_21234550CC>TT	uc002red.3	-	25	5318_5319	c.5190_5191GG>AA	c.(5188-5193)aaggtc>aaAAtc	p.V1731I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1731					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTTGACTGACCTTGAAGTTGA	0.446000														274			75		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42128555	42128555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:42128555C>T	uc003baz.1	+	10	1304	c.1279C>T	c.(1279-1281)Cct>Tct	p.P427S	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc003bay.3_Missense_Mutation_p.P427S|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	427							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGTTAGCAGCCCTGTGCTGGA	0.547000														37			27		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48250140	48250140	+	Missense_Mutation	SNP	G	A	A	rs61739612	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:48250140G>A	uc002eff.1	-	5	1186	c.836C>T	c.(835-837)cCc>cTc	p.P279L	ABCC11_uc002efg.1_Missense_Mutation_p.P279L|ABCC11_uc002efh.1_Missense_Mutation_p.P279L|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Missense_Mutation_p.P279L	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	279	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CAGTACTAGGGGTCCATAGCA	0.483000														143			39		0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89650480	89650480	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89650480C>T	uc002fnp.3	+	5	832	c.702C>T	c.(700-702)ctC>ctT	p.L234L	CPNE7_uc002fnq.3_Silent_p.L159L	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	234					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		ACGTGGAGCTCTCCTTCCGGG	0.687000														44			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049518	9049518	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9049518C>T	uc002mkp.3	-	4	32317	c.32113G>A	c.(32113-32115)Gaa>Aaa	p.E10705K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10707	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						GCATCTGATTCATGATGAGAA	0.473000														255			16		0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49411662	49411662	+	Silent	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:49411662G>C	uc002efr.3	+	1	214	c.171G>C	c.(169-171)gtG>gtC	p.V57V		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	57										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						CCAAAGTGGTGACAGTCCTTA	0.552000														12			7		0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765837	171765837	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:171765837G>A	uc003mbr.3	-	12	2443	c.2272C>T	c.(2272-2274)Cca>Tca	p.P758S		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	758	Pro-rich.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGCGGGGTGGGACCACAGGT	0.617000														50			14		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370417	126370417	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126370417G>A	uc003ifj.4	+	8	8246	c.8246G>A	c.(8245-8247)gGg>gAg	p.G2749E	FAT4_uc011cgp.2_Missense_Mutation_p.G1047E|FAT4_uc003ifi.1_Missense_Mutation_p.G227E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2749	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCAGACAAAGGGTCCCCGTCT	0.373000														99			44		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56138689	56138689	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:56138689G>A	uc002xyn.4	+	5	1030	c.867G>A	c.(865-867)ggG>ggA	p.G289G	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	289					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.G289W(2)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GCGCCTGCGGGAAGACCAACC	0.547000														84			47		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51413243	51413243	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:51413243C>T	uc011bds.2	+	50	5500	c.5477C>T	c.(5476-5478)cCc>cTc	p.P1826L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1826						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGCAGTGATCCCAATCTGTCT	0.532000														92			38		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117665278	117665278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117665278C>T	uc001twn.2	-	23	4387	c.3676G>A	c.(3676-3678)Gaa>Aaa	p.E1226K	NOS1_uc021ren.1_Missense_Mutation_p.E856K|NOS1_uc021reo.1_Missense_Mutation_p.E856K|NOS1_uc001twm.2_Missense_Mutation_p.E1192K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1192	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGGTGCACTTCATCAGGGTAC	0.622000														37			17		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164733803	164733803	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:164733803G>A	uc003fei.3	-	31	3888	c.3825C>T	c.(3823-3825)ttC>ttT	p.F1275F		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1275	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GAAGGTCCTGGAATGCTTCAC	0.373000										HNSCC(35;0.089)				146			61		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57602219	57602219	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57602219T>C	uc009vzx.1	-	3	623	c.303A>G	c.(301-303)acA>acG	p.T101T	DAB1_uc001cyt.1_Silent_p.T101T|DAB1_uc001cyq.1_Silent_p.T101T|DAB1_uc001cyr.1_Silent_p.T101T|DAB1_uc009vzw.1_Silent_p.T101T|DAB1_uc001cys.1_Silent_p.T101T	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	101	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TACTTACCCCTGTCTTCTCAT	0.408000														53			8		0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583561	10583561	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10583561G>A	uc011kwz.2	-	5	1043	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	SOX7_uc003wtf.3_Missense_Mutation_p.S285F	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	285	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.S285F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGTGGCCGGGGAGTAATAGGC	0.667000														29			15		0	0	1	0	0
CCM2	83605	broad.mit.edu	37	7	45108060	45108060	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:45108060C>T	uc003tms.3	+	4	625	c.554C>T	c.(553-555)tCc>tTc	p.S185F	CCM2_uc003tmn.3_Non-coding_Transcript|CCM2_uc003tmo.3_Missense_Mutation_p.S164F|CCM2_uc003tmp.3_Missense_Mutation_p.S106F|CCM2_uc003tmr.3_Intron|CCM2_uc011kcb.2_Missense_Mutation_p.S127F|CCM2_uc011kcc.2_Intron	NM_001029835	NP_001025006	Q9BSQ5	CCM2_HUMAN	Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 1, mRNA.	164	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCAGGGATCTCCCCCAGCCAG	0.612000														63			33		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44555716	44555716	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44555716C>T	uc003tlb.3	-	17	3737	c.3681G>A	c.(3679-3681)agG>agA	p.R1227R	NPC1L1_uc011kbw.2_Silent_p.R1154R|NPC1L1_uc003tlc.3_Silent_p.R1200R|NPC1L1_uc003tla.3_Intron	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1227					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)	CCTCTTTGGCCCTCTCCAGCC	0.627000														11			6		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123019002	123019002	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:123019002G>A	uc003egh.2	-	14	2865	c.2865C>T	c.(2863-2865)ttC>ttT	p.F955F	ADCY5_uc021xdd.1_Silent_p.F605F|ADCY5_uc003egg.2_Silent_p.F588F|ADCY5_uc003egi.1_Silent_p.F514F	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	955					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGGCGTTGTCGAAGAGCGTGA	0.617000														52			14		0	0	1	0	0
ALDH1A3	220	broad.mit.edu	37	15	101436147	101436147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:101436147C>T	uc002bwn.4	+	6	780	c.676C>T	c.(676-678)Cct>Tct	p.P226S	ALDH1A3_uc010bpb.3_Missense_Mutation_p.P119S|BC073817_uc002bwo.1_Non-coding_Transcript	NM_000693	NP_000684	P47895	AL1A3_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A3 (ALDH1A3), mRNA.	226					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	GGCCGGGTTCCCTCCAGGAGT	0.557000														32			10		0	0	1	0	0
ARRDC4	91947	broad.mit.edu	37	15	98514412	98514412	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:98514412C>T	uc010bom.3	+	7	1411	c.1252C>T	c.(1252-1254)Ctc>Ttc	p.L418F	ARRDC4_uc002bui.4_Missense_Mutation_p.L331F	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA.	418					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TTCCTTCATTCTCTGAACGTA	0.398000														177			12		0	0	1	0	0
SLC35B3	51000	broad.mit.edu	37	6	8422706	8422706	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:8422706G>A	uc011did.2	-	4	948	c.571C>T	c.(571-573)Caa>Taa	p.Q191*	SLC35B3_uc003myc.3_Intron|SLC35B3_uc003myd.3_Non-coding_Transcript|SLC35B3_uc010joe.3_Nonsense_Mutation_p.Q191*|SLC35B3_uc003myb.3_Nonsense_Mutation_p.Q191*	NM_001142540	NP_057032	Q9H1N7	S35B3_HUMAN	Homo sapiens solute carrier family 35, member B3 (SLC35B3), transcript variant 2, mRNA.	191					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					ACTATACCTTGAATAAAAACT	0.333000														54			12		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69885391	69885391	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69885391C>T	uc011cao.1	-	2	703	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	UGT2B10_uc011can.1_Intron			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	237					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CCTAAAACTTCACTGTAAAAG	0.338000														38			10		0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118196347	118196347	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:118196347C>T	uc001lcl.4	+	1	275	c.174C>T	c.(172-174)ctC>ctT	p.L58L		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	58					lipid catabolic process	extracellular region	triglyceride lipase activity	p.L57L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GTTTCCTGCTCTACACTATAC	0.408000														159			17		0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69669638	69669638	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:69669638G>A	uc004dyi.2	+	3	979	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	U4_uc022byp.1_5'Flank|DLG3_uc004dyj.2_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	211	PDZ 1.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CCTGTGGTGCGATTGGTGGTG	0.642000														10			3		0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	6925673	6925673	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:6925673C>T	uc011bwg.2	+	1	636	c.557C>T	c.(556-558)tCc>tTc	p.S186F	TBC1D14_uc003gjs.4_Missense_Mutation_p.S186F	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	186						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						ACGAGCAGCTCCAGTGCCATT	0.552000														28			11		0	0	1	0	0
RASL10B	91608	broad.mit.edu	37	17	34068188	34068188	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:34068188C>T	uc002hju.3	+	3	842	c.476C>T	c.(475-477)tCg>tTg	p.S159L		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	Homo sapiens RAS-like, family 10, member B (RASL10B), mRNA.	159	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.C158C(1)		breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTGGAATGCTCGGCCAAGTAC	0.647000														26			17		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6051600	6051600	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:6051600C>T	uc010idb.1	-	15	2395	c.1909_splice	c.e15-1	p.D637_splice	JAKMIP1_uc010idc.1_Splice_Site_p.D452_splice|JAKMIP1_uc010idd.1_Intron	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	410					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATTCACATCCTGGAAGAGAT	0.443000														21			9		0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9959119	9959119	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:9959119C>T	uc003bua.3	+	0	338	c.120C>T	c.(118-120)ccC>ccT	p.P40P	CIDEC_uc003bto.3_Intron|IL17RC_uc010hcr.3_Intron|IL17RC_uc011ato.2_Intron|IL17RC_uc010hcs.3_Intron|IL17RC_uc003btz.3_Intron|IL17RC_uc011atp.2_Intron|IL17RC_uc003bud.3_Intron|IL17RC_uc010hct.3_Intron|IL17RC_uc010hcu.3_Intron|IL17RC_uc003bub.3_Intron|IL17RC_uc010hcv.3_Intron|IL17RC_uc003buc.3_Intron|IL17RC_uc011atq.2_Intron	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	40						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTCTGGAACCCTGGGGAGACG	0.607000														55			17		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803521	185803521	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:185803521C>T	uc002uph.3	+	3	3992	c.3398C>T	c.(3397-3399)tCc>tTc	p.S1133F		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	1133						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGTTTCTTTCCCAAATCCCA	0.542000														79			37		0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139264207	139264207	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139264207C>T	uc022bpp.1	-	6	1238	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	CARD9_uc004chg.3_Missense_Mutation_p.D358N|CARD9_uc022bpo.1_Missense_Mutation_p.D358N|CARD9_uc011mdx.1_Missense_Mutation_p.D254N	NM_052814	NP_434701	Q9H257	CARD9_HUMAN	Homo sapiens caspase recruitment domain family, member 9 (CARD9), transcript variant 2, mRNA.	358					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	p.R357Q(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CCCACCTGGTCCCGCTCAATG	0.612000														5			4		0	0	1	0	0
RXRG	6258	broad.mit.edu	37	1	165386283	165386283	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:165386283C>T	uc001gda.3	-	3	1079	c.617G>A	c.(616-618)aGg>aAg	p.R206K	RXRG_uc021pea.1_Missense_Mutation_p.R83K	NM_006917	NP_008848	P48443	RXRG_HUMAN	Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA.	206	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CTCACCTTCCCTCTTCATGCC	0.512000														59			14		0	0	1	0	0
TRIM4	89122	broad.mit.edu	37	7	99506319	99506319	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99506319C>T	uc003usd.3	-	3	883	c.684G>A	c.(682-684)acG>acA	p.T228T	TRIM4_uc003use.3_Silent_p.T202T|TRIM4_uc011kjc.2_Silent_p.T58T|TRIM4_uc003usf.3_Silent_p.T202T	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	228					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GCTTCTTCTTCGTCTCTTCTT	0.448000														115			37		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325003	150325004	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150325003_150325004CC>TT	uc022apv.1	-	2	1372_1373	c.892_893GG>AA	c.(892-894)gga>AAa	p.G298K	GIMAP6_uc003whn.3_Missense_Mutation_p.G228K|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	228							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTAATAATCTCCTTCGTTTTCC	0.515000														175			71		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15073099	15073099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15073099C>T	uc002naa.1	-	4	657	c.650G>A	c.(649-651)gGg>gAg	p.G217E	SLC1A6_uc010dzu.1_Missense_Mutation_p.G217E|SLC1A6_uc010xod.1_Missense_Mutation_p.G153E|SLC1A6_uc002nab.3_Missense_Mutation_p.G217E|SLC1A6_uc002nac.3_Missense_Mutation_p.G217E	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	217					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CGGCTCAGACCCGTTCTCTGT	0.552000														142			15		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106653437	106653437	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106653437C>T	uc021ser.1	-	1433		c.28782G>A								Parts of antibodies, mostly variable regions.																		ACAGGAAGTTCCTGGAATTGT	0.522000														177			37		0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56334725	56334725	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56334725C>T	uc001sij.3	+	12	1326	c.1062C>T	c.(1060-1062)acC>acT	p.T354T	DGKA_uc001sih.1_Silent_p.T242T|DGKA_uc001sii.1_Silent_p.T212T|DGKA_uc009zod.1_Silent_p.T273T|DGKA_uc001sik.3_Silent_p.T354T|DGKA_uc001sil.3_Silent_p.T354T|DGKA_uc001sim.3_Silent_p.T354T|DGKA_uc001sin.3_Silent_p.T354T|DGKA_uc009zof.3_5'UTR|DGKA_uc001sio.3_Silent_p.T96T	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	354					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)	GCCAGAAGACCATGGATGATT	0.493000											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			10		0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120502576	120502576	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:120502576C>T	uc001txl.1	+	3	827	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	CCDC64_uc001txk.2_Missense_Mutation_p.R268C|CCDC64_uc009zwv.1_Non-coding_Transcript|CCDC64_uc010sze.1_Missense_Mutation_p.R12C	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA.	268					Golgi to secretory granule transport|neuron projection development	centrosome	Rab GTPase binding|dynactin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGGAGCATCGTCTCAGCGC	0.567000														138			19		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87045156	87045156	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:87045156C>T	uc009wcs.3	+	12	2286	c.2242C>T	c.(2242-2244)Ccc>Tcc	p.P748S	CLCA4_uc009wct.3_Missense_Mutation_p.P511S|CLCA4_uc009wcu.3_Missense_Mutation_p.P568S	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	748						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			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)		CCCAAGCCTTCCCTTGCCTGA	0.468000														134			67		0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139113660	139113660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139113660G>A	uc010nbi.2	-	5	841	c.803C>T	c.(802-804)tCg>tTg	p.S268L		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.	268					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CAATCCATGCGACCCATTTGG	0.557000														58			27		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940519	113940519	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113940519G>A	uc002tjc.3	+	1	669	c.486G>A	c.(484-486)caG>caA	p.Q162Q	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.Q161Q|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	162					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCATCCTGCAGGCCCAGATGT	0.617000														84			6		0	0	1	0	0
IFNA21	3452	broad.mit.edu	37	9	21166096	21166096	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21166096C>T	uc003zom.2	-	0	564	c.516G>A	c.(514-516)atG>atA	p.M172I		NM_002175	NP_002166	P01568	IFN21_HUMAN	Homo sapiens interferon, alpha 21 (IFNA21), mRNA.	172					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAAGGATCTCATGATTTCTG	0.383000														314			33		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952418	119952418	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:119952418G>A	uc010inb.3	+	3	2684	c.2488G>A	c.(2488-2490)Gga>Aga	p.G830R	SYNPO2_uc010ina.3_Missense_Mutation_p.G830R|SYNPO2_uc003icm.4_Missense_Mutation_p.G830R|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.G758R|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	830						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCCTTCAAAGGACCACAAGC	0.532000														51			21		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832666	24832666	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:24832666G>A	uc001iru.4	+	18	4870	c.4467G>A	c.(4465-4467)ggG>ggA	p.G1489G	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Silent_p.G1172G|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Silent_p.G325G	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1489					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						aggaaaatggggaTTCTGTAG	0.433000														32			12		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43247047	43247047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:43247047G>A	uc002lbe.3	+	12	2521	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	SLC14A2_uc010dnj.3_Missense_Mutation_p.E569K	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	569						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGAGTGTGGAGAGGGACTTAA	0.507000														37			5		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065427	35065427	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35065427C>T	uc003jjm.3	-	9	2192	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.E444K|PRLR_uc021xxl.1_3'UTR	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	545					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTGGCATACTCCTTATTGTTC	0.478000														75			19		0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31541393	31541393	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31541393C>T	uc011dnu.1	+	3	754	c.541C>T	c.(541-543)Cta>Tta	p.L181L	LTA_uc003nue.1_Silent_p.L181L|LTA_uc003nuf.3_Intron|LTA_uc003nuh.3_Intron|LTA_uc003nug.3_Missense_Mutation_p.A90V|LTA_uc010jsr.3_Non-coding_Transcript|TNF_uc003nui.3_5'Flank|TNF_uc003nuj.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	181					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	GGGAGACCAGCTATCCACCCA	0.557000														222			64		0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19136660	19136660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19136660G>A	uc002nkz.1	-	2	559	c.539C>T	c.(538-540)cCc>cTc	p.P180L	SUGP2_uc002nkx.2_Missense_Mutation_p.P166L|SUGP2_uc002nla.1_Missense_Mutation_p.P166L|SUGP2_uc002nlb.2_Missense_Mutation_p.P166L|SUGP2_uc010xqk.1_Intron	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	166					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AACTGCAGAGGGACCAAAACT	0.502000														70			37		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81969801	81969801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:81969801C>T	uc002fgt.3	+	26	3048	c.2870C>T	c.(2869-2871)tCc>tTc	p.S957F		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	957	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GAAATCCGCTCCTTTGTGGAG	0.483000														56			6		0	0	1	0	0
C9orf152	401546	broad.mit.edu	37	9	112963360	112963360	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:112963360G>A	uc011lwk.2	-	1	1142	c.588C>T	c.(586-588)ttC>ttT	p.F196F	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	196										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ATTGAGTGCTGAATTTTAAGC	0.502000														85			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179501491	179501491	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179501491C>T	uc021vsy.1	-	173	33484	c.33259G>A	c.(33259-33261)Gaa>Aaa	p.E11087K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E4782K|TTN_uc021vta.1_Missense_Mutation_p.E4715K|TTN_uc021vtb.1_Missense_Mutation_p.E4590K|TTN_uc010fre.1_Missense_Mutation_p.E948K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12014	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E4590K(1)|p.E4782K(1)|p.E11087K(1)		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)			TTTCTCCTTTCGGCTTCTATT	0.433000														54			17		0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15858288	15858288	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:15858288G>A	uc002yju.1	-	7	1149	c.1067C>T	c.(1066-1068)tCt>tTt	p.S356F	SAMSN1_uc010gky.1_Missense_Mutation_p.S188F|SAMSN1_uc002yjv.1_Missense_Mutation_p.S424F	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	356					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CAGATTTTCAGACTCCAGATC	0.393000														140			30		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699041	17699041	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:17699041C>T	uc002grm.3	+	2	3248	c.2779C>T	c.(2779-2781)Ctg>Ttg	p.L927L	RAI1_uc002grn.1_Silent_p.L927L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	927						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GTCCGTCATCCTGCTGGGCCC	0.632000														29			13		0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56511246	56511246	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56511246C>T	uc010rjo.2	-	0	42	c.42G>A	c.(40-42)gtG>gtA	p.V14V		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CTTCCATGTCCACGGAGGTGA	0.408000														94			32		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220166353	220166353	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220166353C>T	uc002vkz.3	-	6	1324	c.1083G>A	c.(1081-1083)ctG>ctA	p.L361L	PTPRN_uc010zlc.2_Silent_p.L271L|PTPRN_uc002vla.3_Silent_p.L361L	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	361					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCAGCAGGGTCAGGAGTGTGG	0.637000														78			36		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141459834	141459834	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141459834G>A	uc002tvj.1	-	38	7150	c.6178C>T	c.(6178-6180)Cgc>Tgc	p.R2060C		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2060					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGTCTGTGCGAGCATCACAC	0.373000										TSP Lung(27;0.18)				166			13		0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3673354	3673354	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3673354G>A	uc001akv.2	+	3	692	c.611G>A	c.(610-612)aGa>aAa	p.R204K		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	204								p.R204I(2)		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)		CGGAAGAGGAGAAAATCCCAG	0.547000														73			21		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105990440	105990440	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105990440G>A	uc001kxw.3	-	1	343	c.227C>T	c.(226-228)cCc>cTc	p.P76L	WDR96_uc001kxx.4_Missense_Mutation_p.P76L|WDR96_uc001kxy.1_Missense_Mutation_p.P76L|WDR96_uc001kxz.3_Missense_Mutation_p.P76L	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	76										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AACTTCACAGGGGATGTTAGT	0.393000														100			32		0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37289169	37289169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:37289169G>A	uc002rpp.1	-	10	1705	c.1609C>T	c.(1609-1611)Ctt>Ttt	p.L537F		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	537							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GTTCGTAAAAGATCTTCAGCA	0.343000														59			24		0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43258539	43258539	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43258539G>A	uc002ouo.2	-	4	1287	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.R397C|PSG8_uc010ein.3_Missense_Mutation_p.R275C|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	397	Ig-like C2-type 3.					extracellular region		p.R397C(4)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GCTGAGTTACGAACAGAGCAA	0.448000														655			39		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10358358	10358358	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10358358C>T	uc002gmn.3	-	20	2446	c.2335G>A	c.(2335-2337)Gaa>Aaa	p.E779K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	779	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E778K(1)		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						TCTCGCATTTCCTCTAGAGTT	0.418000														41			28		0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43918417	43918417	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:43918417G>A	uc003tiw.3	-	5	702	c.645C>T	c.(643-645)ctC>ctT	p.L215L	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Silent_p.L172L|URGCP_uc003tiv.3_Silent_p.L140L|URGCP_uc003tix.3_Silent_p.L206L|URGCP_uc003tiy.3_Silent_p.L172L|URGCP_uc003tiz.3_Silent_p.L172L|URGCP_uc011kbj.2_Silent_p.L172L	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	215					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGGCAACACGAGTGGGAGTG	0.562000														29			11		0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171406482	171406482	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:171406482G>A	uc003fhs.3	-	13	1870	c.1523C>T	c.(1522-1524)tCt>tTt	p.S508F	PLD1_uc003fht.3_Missense_Mutation_p.S508F	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	508	Catalytic.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GGAACCCAGAGACGGTCCTGA	0.453000														82			9		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138000129	138000129	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:138000129G>A	uc002tva.1	+	8	2160	c.2160G>A	c.(2158-2160)agG>agA	p.R720R	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.R610R	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)		CCTGCCCAAGGATGTGCCAAG	0.478000														42			21		0	0	1	0	0
ALX3	257	broad.mit.edu	37	1	110612973	110612973	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110612973C>T	uc001dzb.3	-	0	350	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_006492	NP_006483	O95076	ALX3_HUMAN	Homo sapiens ALX homeobox 3 (ALX3), mRNA.	88						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCGGGGCCCTCGTAGAAGTGG	0.731000														19			4		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70461399	70461399	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:70461399C>T	uc002lkw.3	-	5	876	c.592G>A	c.(592-594)Gag>Aag	p.E198K	NETO1_uc002lky.2_Missense_Mutation_p.E198K	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	198	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.S197S(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCAACAGCCTCGCTAGCAGTA	0.458000														143			18		0	0	1	0	0
ASGR2	433	broad.mit.edu	37	17	7012127	7012127	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7012127G>A	uc002gep.3	-	2	472	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	ASGR2_uc002gen.1_Silent_p.L50L|ASGR2_uc002geo.2_Silent_p.L69L|ASGR2_uc002geq.3_Silent_p.L50L|ASGR2_uc002ger.3_Silent_p.L69L|ASGR2_uc010clw.2_Silent_p.L50L|ASGR2_uc010vtl.1_Non-coding_Transcript	NM_001181	NP_550434	P07307	ASGR2_HUMAN	Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA.	69					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	ACCAGCAGCAGGATGTTGAAG	0.632000														19			21		0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207135708	207135708	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207135708C>T	uc001hfa.4	-	4	1002	c.502G>A	c.(502-504)Gac>Aac	p.D168N	FCAMR_uc001hfb.3_Missense_Mutation_p.D168N|FCAMR_uc009xca.2_Missense_Mutation_p.D168N|FCAMR_uc021pig.1_Missense_Mutation_p.D83N	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	123	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						GCCACACGGTCACGATAGCGA	0.572000														51			24		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90016011	90016011	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:90016011G>A	uc003kju.3	+	43	9690	c.9594G>A	c.(9592-9594)ggG>ggA	p.G3198G	GPR98_uc003kjt.3_Silent_p.G904G|GPR98_uc003kjv.3_Silent_p.G798G	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3198					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCCCTTTGGGGCTATTCAGTA	0.368000														19			17		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688288	60688288	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:60688288C>T	uc002sae.1	-	3	1987	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	BCL11A_uc002sab.3_Missense_Mutation_p.E587K|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.E256K|BCL11A_uc010ypj.2_Missense_Mutation_p.E553K|BCL11A_uc002sad.1_Missense_Mutation_p.E435K|BCL11A_uc002saf.1_Missense_Mutation_p.E553K	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	587					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ACCGAGTCTTCGTCGCAAGTG	0.672000			T	IGH@	B-CLL									26			15		0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380062	56380062	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56380062C>A	uc001nja.1	-	0	917	c.917G>T	c.(916-918)aGg>aTg	p.R306M	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	306					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						GGATTTTCCCCTAATCATTTG	0.373000														195			29		2.14196e-07	2.14717e-07	1	1	0
VIPR1	7433	broad.mit.edu	37	3	42567411	42567411	+	Missense_Mutation	SNP	G	A	A	rs35925925		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42567411G>A	uc003clf.2	+	3	449	c.325G>A	c.(325-327)Ggc>Agc	p.G109S	VIPR1_uc021wwl.1_Missense_Mutation_p.G68S|VIPR1_uc011azn.2_Missense_Mutation_p.G82S|VIPR1_uc011azl.1_Missense_Mutation_p.G62S|VIPR1_uc011azm.1_5'UTR	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	109					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CACCGACGAAGGCTGGACGCA	0.642000														11			4		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105451060	105451060	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:105451060G>A	uc022cca.1	+	0	1635	c.1635G>A	c.(1633-1635)atG>atA	p.M545I	MUM1L1_uc004emg.2_Missense_Mutation_p.M545I|MUM1L1_uc004emf.2_Missense_Mutation_p.M545I	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	545										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGACCGGATGAAGGCTGCTC	0.468000														9			9		0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	313576	313576	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:313576G>A	uc002lok.1	-	7	732	c.723C>T	c.(721-723)ttC>ttT	p.F241F		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	241	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)		CCCTGTACAGGAACTCCTCCA	0.632000														124			48		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534203	92534203	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92534203C>T	uc001pdj.4	+	8	8041	c.8024C>T	c.(8023-8025)tCg>tTg	p.S2675L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2675	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAGTGCTTTCGTTCTTTGTC	0.483000										TCGA Ovarian(4;0.039)				32			15		0	0	1	0	0
INTS4L1	285905	broad.mit.edu	37	7	64639846	64639846	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:64639846C>T	uc003ttw.3	+	4		c.729C>T								Homo sapiens integrator complex subunit 4-like 1 (INTS4L1), non-coding RNA.																		CCGAGAAGATCAGCTTGACAC	0.453000														64			18		0	0	1	0	0
IL5	3567	broad.mit.edu	37	5	131877530	131877530	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:131877530C>T	uc003kxe.1	-	3	422	c.378G>A	c.(376-378)atG>atA	p.M126I		NM_000879	NP_000870	P05113	IL5_HUMAN	Homo sapiens interleukin 5 (colony-stimulating factor, eosinophil) (IL5), mRNA.	126					immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	ACTCGGTGTTCATTACACCAA	0.393000														76			20		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70871758	70871758	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:70871758G>A	uc002ezr.3	-	76	13225	c.13074C>T	c.(13072-13074)ctC>ctT	p.L4358L	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4359										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)				AGTTCACCTCGAGGTGAGTGG	0.453000														46			24		0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151123529	151123530	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151123529_151123530GG>AA	uc004ffi.3	-	8	1218_1219	c.1164_1165CC>TT	c.(1162-1167)gcccgt>gcTTgt	p.R389C	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	389					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCACGGGTACGGGCATGGGCAC	0.545000														6			3		0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106066665	106066665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106066665G>A	uc001yrw.1	-	4	1079	c.1067C>T	c.(1066-1068)aCc>aTc	p.T356I	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.T303I|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		GCAGGCGAGGGTGCGCTTGTC	0.697000														15			9		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21721262	21721262	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:21721262C>T	uc003svc.3	+	30	5473	c.5442C>T	c.(5440-5442)gcC>gcT	p.A1814A		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1814	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATGTCCATGCCAGAGACGTGG	0.388000									Kartagener syndrome					78			28		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585536	7585536	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7585536G>A	uc003mxp.1	+	23	8320	c.8041G>A	c.(8041-8043)Gac>Aac	p.D2681N	DSP_uc003mxq.1_Missense_Mutation_p.D2082N|DSP_uc021yle.1_Missense_Mutation_p.D2238N	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2681	Globular 2.				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)		GGGTGTGATTGACCAAGACAT	0.567000														154			59		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102508054	102508054	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:102508054C>T	uc001yks.2	+	64	12249	c.12085C>T	c.(12085-12087)Cac>Tac	p.H4029Y		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	4029	AAA 6 (By similarity).		H -> Q (in dbSNP:rs10129889).		G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGACCTGACCCACATTGTGGG	0.597000														89			10		0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867615	6867615	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6867615G>A	uc001met.1	+	0	702	c.702G>A	c.(700-702)ggG>ggA	p.G234G		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGCTAAAGGGAAGCATAAAG	0.453000														188			69		0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7807996	7807996	+	Missense_Mutation	SNP	C	T	T	rs11465393	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7807996C>T	uc002mht.2	-	6	1211	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T	CD209_uc010xju.1_Missense_Mutation_p.A221T|CD209_uc010dvp.2_3'UTR|CD209_uc002mhr.2_Missense_Mutation_p.A358T|CD209_uc002mhs.2_Missense_Mutation_p.A312T|CD209_uc002mhu.2_Missense_Mutation_p.A290T|CD209_uc010dvq.2_Missense_Mutation_p.A376T|CD209_uc002mhq.2_Missense_Mutation_p.A382T|CD209_uc002mhv.2_Missense_Mutation_p.A358T|CD209_uc002mhx.2_Missense_Mutation_p.A338T|CD209_uc002mhw.2_Missense_Mutation_p.A246T|CD209_uc010dvr.2_Missense_Mutation_p.A146T	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	382			A -> S (in dbSNP:rs11465393).		cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.A382T(3)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GAGCAGGAGGCTGCGGACTTT	0.522000														165			74		0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62655996	62655996	+	Missense_Mutation	SNP	C	T	T	rs138529750		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62655996C>T	uc001nwd.3	+	11	1982	c.1724C>T	c.(1723-1725)tCg>tTg	p.S575L	SLC3A2_uc001nwc.3_Missense_Mutation_p.S576L|SLC3A2_uc001nwf.3_Missense_Mutation_p.S513L|SLC3A2_uc001nwg.3_Missense_Mutation_p.S474L	NM_002394	NP_001013269	P08195	4F2_HUMAN	Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.	575					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.F575F(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GTGGGCCTCTCGGCTGGACTG	0.642000														153			67		0	0	1	0	0
CSH2	1443	broad.mit.edu	37	17	61949961	61949961	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61949961C>T	uc002jch.3	-	3	547	c.432G>A	c.(430-432)gaG>gaA	p.E144E	CSH2_uc002jci.3_Silent_p.E144E|CSH2_uc002jcg.3_Intron	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	144					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						GGATGCCTTCCTCTAGGTCCT	0.602000														101			28		0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27840247	27840247	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:27840247G>A	uc022bud.1	+	0	824	c.824G>A	c.(823-825)tGg>tAg	p.W275*	MAGEB10_uc004dbw.3_Nonsense_Mutation_p.W275*	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	275	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CAATTCCTATGGGGCCCAAGA	0.468000														14			22		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30495438	30495438	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30495438G>A	uc002dyi.4	+	8	1036	c.860G>A	c.(859-861)gGa>gAa	p.G287E	ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Missense_Mutation_p.G204E|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	287	VWFA.				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TCACAGATTGGAAAGCATTTT	0.483000														170			20		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093412	30093412	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:30093412C>T	uc010dmc.3	+	0		c.1787C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		AGCTCCCTTGCTGAACCCTGA	0.527000														120			12		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113388681	113388681	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113388681C>T	uc001tug.3	+	6	1645	c.1558C>T	c.(1558-1560)Cct>Tct	p.P520S		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	520	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCTTCAGTTTCCTGAGCAGAA	0.617000														52			18		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122833219	122833219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:122833219C>T	uc003ieg.2	-	4	1445	c.1371G>A	c.(1369-1371)atG>atA	p.M457I	TRPC3_uc010inr.2_Missense_Mutation_p.M329I|TRPC3_uc003ief.2_Missense_Mutation_p.M384I|TRPC3_uc011cgl.1_Missense_Mutation_p.M121I	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	372					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.W457L(1)|p.W457R(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTACAAACTTCATAAAAGGGC	0.443000														43			21		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166170230	166170230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166170230C>T	uc002udc.3	+	8	1425	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	SCN2A_uc002udd.3_Missense_Mutation_p.R379C|SCN2A_uc002ude.3_Missense_Mutation_p.R379C	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	379					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R379C(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTCCTTATTTCGTCTCATGAC	0.413000														99			27		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20565115	20565115	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20565115C>T	uc002dhj.4	-	5	934	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	ACSM2B_uc002dhk.4_Missense_Mutation_p.A242T|ACSM2B_uc010bwf.1_Missense_Mutation_p.A242T	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	242					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCCATCTTGGCCTTGAGGCCC	0.517000														92			45		0	0	1	0	0
CDX1	1044	broad.mit.edu	37	5	149546471	149546471	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149546471C>T	uc003lrq.3	+	0	128	c.32C>T	c.(31-33)tCg>tTg	p.S11L		NM_001804	NP_001795	P47902	CDX1_HUMAN	Homo sapiens caudal type homeobox 1 (CDX1), mRNA.	11						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACAAGGATTCGCCCGTGTAC	0.776000														11			4		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150840204	150840204	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:150840204C>T	uc004fev.4	+	12	1722	c.1390C>T	c.(1390-1392)Ctc>Ttc	p.L464F		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	464						nucleus	signal transducer activity	p.L464V(6)|p.L464F(3)|p.S463F(1)		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)					ATCCAACTCTCTCAAAAACAC	0.463000														27			28		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71008381	71008381	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:71008381C>T	uc001jpf.4	+	9	1600	c.1467C>T	c.(1465-1467)gcC>gcT	p.A489A	HKDC1_uc010qje.2_Silent_p.A352A	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	489					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ACGTGCAGGCCAAGATGCGGG	0.667000														33			10		0	0	1	0	0
SLC16A11	162515	broad.mit.edu	37	17	6945458	6945458	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:6945458G>A	uc002gei.1	-	2	1381	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V		NM_153357	NP_699188	Q8NCK7	MOT11_HUMAN	Homo sapiens solute carrier family 16, member 11 (monocarboxylic acid transporter 11) (SLC16A11), mRNA.	348						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						CAGCCCATAGGCCACAGCCGC	0.716000														5			7		0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95290159	95290159	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:95290159C>T	uc001dqv.4	+	2	353	c.246C>T	c.(244-246)gcC>gcT	p.A82A	SLC44A3_uc001dqx.4_Silent_p.A82A|SLC44A3_uc010otq.2_Silent_p.A46A|SLC44A3_uc010otr.2_Silent_p.A46A|SLC44A3_uc001dqw.4_Silent_p.A34A|SLC44A3_uc010ots.2_Silent_p.A34A|SLC44A3_uc009wds.3_5'UTR|SLC44A3_uc010ott.2_Silent_p.A34A|SLC44A3_uc010otu.1_5'Flank	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	82						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TGGAAGGGGCCCCTCTTTCAG	0.488000														124			19		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14534953	14534953	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:14534953C>T	uc010dln.3	-	3	1318	c.864G>A	c.(862-864)gtG>gtA	p.V288V	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	288										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTAAAAATTTCACCACTTGCT	0.299000														127			12		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884549	228884549	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228884549G>A	uc002vpq.2	-	6	1068	c.1021C>T	c.(1021-1023)Cca>Tca	p.P341S	SPHKAP_uc002vpp.2_Missense_Mutation_p.P341S|SPHKAP_uc010zlx.1_Missense_Mutation_p.P341S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	341						cytoplasm	protein binding	p.P341T(3)|p.P341K(3)|p.P341Q(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCATCTTTTGGAATATACAGT	0.423000														130			58		0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290506	132290506	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:132290506C>T	uc002tta.3	+	5	998	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S	CCDC74A_uc002ttb.3_Missense_Mutation_p.P250S|CCDC74A_uc021vpq.1_Silent_p.F251F|CCDC74A_uc021vpr.1_Missense_Mutation_p.P313S	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	316										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGCTAGCTTTCCCAGGTGAGT	0.647000														65			26		0	0	1	0	0
RAB17	64284	broad.mit.edu	37	2	238494746	238494746	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:238494746G>A	uc002vwz.2	-	1	715	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C	RAB17_uc002vxb.2_Non-coding_Transcript	NM_022449	NP_071894	Q9H0T7	RAB17_HUMAN	Homo sapiens RAB17, member RAS oncogene family (RAB17), transcript variant 1, mRNA.	18					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		TTGAACACACGGGGCTGGCTG	0.592000														61			33		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332873	70332873	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70332873G>A	uc001oqc.3	-	20	3439	c.3327C>T	c.(3325-3327)tcC>tcT	p.S1109S	SHANK2_uc010rqn.2_Silent_p.S585S|SHANK2_uc001opz.3_Silent_p.S580S|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	796					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTTTGGACGTGGAATTCAGCG	0.697000														82			10		0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38967280	38967280	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38967280G>A	uc003jlo.2	-	13	1223	c.1201C>T	c.(1201-1203)Cgt>Tgt	p.R401C	RICTOR_uc003jlp.2_Missense_Mutation_p.R401C|RICTOR_uc010ivf.2_Missense_Mutation_p.R116C	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	401					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AGTCCATTACGAATAAATGCA	0.343000														202			85		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186671899	186671899	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:186671899G>A	uc002upl.3	+	16	18133	c.18133G>A	c.(18133-18135)Gaa>Aaa	p.E6045K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGTGATAAATGAAATTTTCCA	0.318000														123			46		0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28618127	28618127	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:28618127G>A	uc002dqn.3	-	8	1414	c.822C>T	c.(820-822)agC>agT	p.S274S	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Silent_p.S183S|SULT1A1_uc002dqi.3_Silent_p.S183S|SULT1A1_uc002dqk.3_Silent_p.S183S|SULT1A1_uc002dql.3_Silent_p.S183S|SULT1A1_uc002dqm.3_Silent_p.S105S|SULT1A1_uc002dqp.3_Silent_p.S183S	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	183					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GGTGGGTGCGGCTCAGCTCCC	0.597000														155			14		0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116757239	116757239	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:116757239C>T	uc011ebg.2	+	5	1764	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	DSE_uc003pws.3_Silent_p.F536F|DSE_uc003pwt.3_Silent_p.F536F|DSE_uc003pwu.3_Silent_p.F203F	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	536					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GGGTGGTTTTCATCCGAGGAG	0.493000														26			18		0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68011711	68011711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:68011711G>A	uc002evc.4	-	5	947	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C	DPEP3_uc010cex.3_Missense_Mutation_p.R285C	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.	260					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		ATGCCCAGGCGGTTCAACTCC	0.498000														23			18		0	0	1	0	0
HEPN1	641654	broad.mit.edu	37	11	124789726	124789726	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124789726G>A	uc001qbj.1	+	0	581	c.80G>A	c.(79-81)gGa>gAa	p.G27E	HEPACAM_uc009zbj.3_3'UTR|HEPACAM_uc001qbk.3_3'UTR	NM_001037558	NP_001032647	Q6WQI6	HEPN1_HUMAN	Homo sapiens hepatocellular carcinoma, down-regulated 1 (HEPN1), mRNA.	27						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		GGGATGCAAGGACCCTTGGAG	0.507000														68			5		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2622120	2622120	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2622120G>A	uc009zdu.1	+	8	1673	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	CACNA1C_uc001qkc.2_Missense_Mutation_p.E454K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E454K|CACNA1C_uc001qke.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E454K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E454K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkj.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkk.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkm.2_Missense_Mutation_p.E454K|CACNA1C_uc001qko.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E454K|CACNA1C_uc001qku.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E454K|CACNA1C_uc001qks.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E454K|CACNA1C_uc009zdv.1_Missense_Mutation_p.E451K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E454K|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Missense_Mutation_p.E190K|CACNA1C_uc009zdy.1_Missense_Mutation_p.E79K|CACNA1C_uc001qkv.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	454					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GAATGAGGACGAAGGCATGGA	0.552000														7			5		0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52967192	52967192	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52967192G>A	uc001sap.1	-	0	418	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	124	Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		ACGTTGAGGGGGGCCAAGAGG	0.592000														122			21		0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68835021	68835021	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:68835021T>C	uc001oos.2	+	7	893	c.777T>C	c.(775-777)ccT>ccC	p.P259P	TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Silent_p.P174P|TPCN2_uc010rqg.1_Silent_p.P259P|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	259					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGAACCTGCCTGAGTCTCTGA	0.652000														78			28		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100523597	100523597	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:100523597C>T	uc003yiv.3	+	28	4676	c.4565C>T	c.(4564-4566)aCc>aTc	p.T1522I	VPS13B_uc003yiw.3_Missense_Mutation_p.T1497I|VPS13B_uc003yix.1_Missense_Mutation_p.T992I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1522					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)			CTACCAAAGACCCAAAAAGAG	0.358000														48			15		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94574247	94574247	+	Nonsense_Mutation	SNP	G	A	A	rs61748531		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94574247G>A	uc001dqh.3	-	3	432	c.328C>T	c.(328-330)Caa>Taa	p.Q110*	ABCA4_uc010otn.1_Nonsense_Mutation_p.Q110*	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	110					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)		AGGAGTTCTTGAAAATCTCGA	0.418000														46			24		0	0	1	0	0
ZNF596	169270	broad.mit.edu	37	8	192971	192971	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:192971C>T	uc003wot.3	+	2	385	c.97C>T	c.(97-99)Caa>Taa	p.Q33*	ZNF596_uc003wou.3_5'UTR|ZNF596_uc003wov.3_Nonsense_Mutation_p.Q33*|ZNF596_uc003wow.3_Nonsense_Mutation_p.Q33*	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	Homo sapiens zinc finger protein 596 (ZNF596), transcript variant 3, mRNA.	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		AAAGCTGTTTCAAGATGTGAT	0.393000														46			31		0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282609	59282609	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59282609C>T	uc010rkv.2	+	0	224	c.224C>T	c.(223-225)tCc>tTc	p.S75F		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TGCTTTTCCTCCATCACAGCT	0.458000														187			17		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12316366	12316366	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:12316366C>T	uc001mkg.1	+	2	1679	c.1388C>T	c.(1387-1389)cCt>cTt	p.P463L		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	463	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.P462P(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctcctcct	0.577000														14			13		0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183211937	183211938	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183211937_183211938CC>TT	uc003flr.3	-	4	1337_1338	c.1279_1280GG>AA	c.(1279-1281)gga>AAa	p.G427K	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_Non-coding_Transcript	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	427								p.G427*(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTCAAAGCCTCCGATCACATAG	0.455000														139			41		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347522	140347522	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140347522G>A	uc003lii.3	+	0	1776	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.D391N	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	391	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)			CAGTGTCAATGACCAAGACTC	0.552000														69			30		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94083536	94083536	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94083536C>T	uc001ybv.1	+	25	3728	c.3645C>T	c.(3643-3645)tgC>tgT	p.C1215C	UNC79_uc001ybs.1_Silent_p.C1193C	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1370						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						TCAAATACTGCTCTTGTCCTC	0.453000														102			40		0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23517687	23517687	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23517687G>A	uc001wil.3	-	13	2221	c.1961_splice	c.e13-1	p.A654_splice	CDH24_uc010akf.3_Splice_Site_p.A616_splice	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	654					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GCACCACCAGGGCTGCGCGAG	0.647000														91			29		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143049044	143049044	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143049044G>A	uc003wcr.1	+	22	3040	c.2953G>A	c.(2953-2955)Gaa>Aaa	p.E985K	CLCN1_uc011ktc.1_Missense_Mutation_p.E597K	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	985					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGATGAGGATGAACTGATCCT	0.617000														92			27		0	0	1	0	0
TMEM56	148534	broad.mit.edu	37	1	95657146	95657146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:95657146G>A	uc021oqe.1	+	6	890	c.514G>A	c.(514-516)Gct>Act	p.A172T	TMEM56_uc001drd.4_Intron|AK090700_uc001dre.1_Intron|TMEM56_uc001drb.3_Missense_Mutation_p.A172T	NM_001199679	NP_001186608	Q96MV1	TMM56_HUMAN	Homo sapiens transmembrane protein 56 (TMEM56), transcript variant 1, mRNA.	172	TLC.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		GTTTTCTAAAGCTATCGTTAT	0.368000														123			51		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111616007	111616007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:111616007G>A	uc003kpv.1	-	2	492	c.218C>T	c.(217-219)cCt>cTt	p.P73L	EPB41L4A_uc003kpw.1_Missense_Mutation_p.P73L	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	73	FERM.					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)		GGTTTTTGCAGGATCCAGCCA	0.333000														228			42		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103124631	103124631	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103124631G>A	uc002tbz.4	+	4	1749	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	431					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						GGTGTTCGAGGAGCTGGAAGT	0.398000														91			30		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24528509	24528509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24528509C>T	uc001wlj.2	+	20	1814	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	553										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGCAGACTCCCGGCTGAAGCT	0.657000														31			16		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73834126	73834126	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:73834126G>A	uc001ouu.2	-	7	1499	c.1272C>T	c.(1270-1272)tcC>tcT	p.S424S	C2CD3_uc001ouv.2_Silent_p.S424S	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	424						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CAGGAGATGGGGAATCTGGAG	0.428000														53			18		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158637664	158637664	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158637664C>T	uc001fst.1	-	14	2221	c.2022G>A	c.(2020-2022)gaG>gaA	p.E674E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	674					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTTTGTAGCCTCCAGCAACT	0.423000														51			20		0	0	1	0	0
CCDC90A	63933	broad.mit.edu	37	6	13807255	13807255	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:13807255G>A	uc003nbc.2	-	1	568	c.437C>T	c.(436-438)tCc>tTc	p.S146F	CCDC90A_uc010jpf.3_Non-coding_Transcript	NM_001031713	NP_001026883	Q96AQ8	CC90A_HUMAN	Homo sapiens coiled-coil domain containing 90A (CCDC90A), mRNA.	146						integral to membrane|mitochondrion				cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6	Breast(50;0.0027)|Ovarian(93;0.0964)	all_hematologic(90;0.117)				CAGCTGCAGGGATCCAGCAGA	0.473000														65			40		0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219538350	219538350	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219538350C>T	uc002viu.3	+	2	366	c.87C>T	c.(85-87)gtC>gtT	p.V29V	STK36_uc002viv.3_Silent_p.V29V|RNF25_uc002vit.3_5'Flank|RNF25_uc010fvw.3_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	29	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		ACTGACAGGTCGTGGCCCTGA	0.458000														45			9		0	0	1	0	0
TRIL	9865	broad.mit.edu	37	7	28997319	28997319	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:28997319C>T	uc003szt.3	-	2	708	c.341G>A	c.(340-342)gGg>gAg	p.G114E	DQ601810_uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	Homo sapiens TLR4 interactor with leucine-rich repeats (TRIL), mRNA.	115					inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										GAGGTTGTTCCCCAGGTACAG	0.657000														11			4		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75596679	75596679	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:75596679C>T	uc003kei.1	+	10	1896	c.1762C>T	c.(1762-1764)Ctg>Ttg	p.L588L		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	588					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGTCAACTTTCTGGGGACATT	0.413000														184			40		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28273189	28273189	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:28273189C>T	uc009xky.3	-	4	704	c.606G>A	c.(604-606)aaG>aaA	p.K202K	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Silent_p.K202K|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	202							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTATATCCTTCTTCACCGTCA	0.338000														119			54		0	0	1	0	0
FCER2	2208	broad.mit.edu	37	19	7761754	7761754	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7761754C>T	uc002mhn.3	-	7	643	c.426G>A	c.(424-426)cgG>cgA	p.R142R	FCER2_uc021unx.1_Silent_p.R141R|FCER2_uc002mhm.2_Silent_p.R142R|FCER2_uc010xjt.2_Silent_p.R64R|FCER2_uc010dvo.2_Silent_p.R142R	NM_001220500	NP_001207429	P06734	FCER2_HUMAN	Homo sapiens Fc fragment of IgE, low affinity II, receptor for (CD23) (FCER2), transcript variant 3, mRNA.	142					positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						TCACCTCCTCCCGGAGTCTTT	0.587000														9			4		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325407	47325407	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47325407G>A	uc001cqo.1	-	8		c.1161C>T								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		GCGTAGAGGCGGAGGCATTCC	0.493000														87			20		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104031893	104031893	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:104031893G>A	uc001tjw.3	+	7	995	c.809G>A	c.(808-810)gGg>gAg	p.G270E		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	270	EGF-like 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGCTACCGTGGGGATGGCCAA	0.502000														83			28		0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283671	40283671	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:40283671C>T	uc003ayg.3	-	1	333	c.82G>A	c.(82-84)Gac>Aac	p.D28N		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	28	ENTH.							p.D28N(2)|p.D28Y(2)|p.N27N(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CCCCAAGGGTCGTTAGAAGTT	0.393000														100			51		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81675169	81675169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81675169C>T	uc001szo.2	-	26	3240	c.3079G>A	c.(3079-3081)Gaa>Aaa	p.E1027K	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E926K|PPFIA2_uc021rbh.1_Missense_Mutation_p.E922K|PPFIA2_uc021rbi.1_Missense_Mutation_p.E1021K|PPFIA2_uc021rbj.1_Missense_Mutation_p.E1006K|PPFIA2_uc021rbk.1_Missense_Mutation_p.E1012K|PPFIA2_uc021rbl.1_Missense_Mutation_p.E1027K|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.E563K|PPFIA2_uc021rbf.1_Missense_Mutation_p.E213K	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	926								p.E1027K(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGAAGCCATTCATTTCCAATC	0.393000														81			29		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189705318	189705318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:189705318C>T	uc011bsk.2	-	4	1484	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	LEPREL1_uc003fsg.3_Missense_Mutation_p.E185K	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	366					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGTCTCACCTCTCTGGCCTCA	0.418000														30			18		0	0	1	0	0
FAM110C	642273	broad.mit.edu	37	2	45946	45946	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:45946C>T	uc010yim.2	-	0	643	c.440G>A	c.(439-441)gGg>gAg	p.G147E		NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN	Homo sapiens family with sequence similarity 110, member C (FAM110C), mRNA.	147						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CTCCGGGTTCCCGGCCTTGCC	0.756000														9			7		0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31585462	31585462	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31585462C>T	uc002wyi.3	-	5	465	c.372G>A	c.(370-372)tcG>tcA	p.S124S		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	124					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CTTTCATTTTCGATGGTAAGT	0.473000														39			22		0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38910780	38910780	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38910780G>T	uc021uub.1	-	4	714	c.500C>A	c.(499-501)tCt>tAt	p.S167Y	RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Missense_Mutation_p.S167Y|RASGRP4_uc021uua.1_Missense_Mutation_p.S167Y|RASGRP4_uc021uuc.1_Missense_Mutation_p.S167Y|RASGRP4_uc021uud.1_Missense_Mutation_p.S167Y|RASGRP4_uc021uue.1_Missense_Mutation_p.S167Y|RASGRP4_uc021uuf.1_Missense_Mutation_p.S167Y	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	167	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGTCAGAAGAGTCTCCCAG	0.597000														35			5		0.00198382	0.00198522	1	1	0
GLB1	2720	broad.mit.edu	37	3	33114106	33114106	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:33114106G>A	uc011axk.1	-	2	436	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	GLB1_uc003cfh.1_Missense_Mutation_p.R29C|GLB1_uc003cfi.1_Missense_Mutation_p.R59C|GLB1_uc003cfj.1_Missense_Mutation_p.R59C	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	59					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CGGGGCACACGGGAGTAGTGA	0.542000														69			19		0	0	1	0	0
RAC2	5880	broad.mit.edu	37	22	37627425	37627425	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37627425G>A	uc003arc.3	-	4	411	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_002872	NP_002863	P15153	RAC2_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) (RAC2), mRNA.	98					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCACTTCTGGGAACCACTGGG	0.627000														51			21		0	0	1	0	0
FOXR1	283150	broad.mit.edu	37	11	118849510	118849510	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118849510G>A	uc001pui.3	+	1	305	c.80G>A	c.(79-81)cGa>cAa	p.R27Q	FOXR1_uc001puj.3_Non-coding_Transcript|FOXR1_uc001puk.3_5'UTR	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	Homo sapiens forkhead box R1 (FOXR1), mRNA.	27					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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	p.R27Q(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TATAAACTCCGAATTGTTAAG	0.448000														132			46		0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31931244	31931244	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31931244C>T	uc003nyn.1	+	13	1847	c.1458C>T	c.(1456-1458)ccC>ccT	p.P486P	SKIV2L_uc011dou.1_Silent_p.P328P|SKIV2L_uc011dov.1_Silent_p.P293P	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	486						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCCCCGTGCCCCTGGAGCACT	0.562000														62			18		0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354563	42354563	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42354563C>T	uc010xwe.2	+	6	1022	c.939C>T	c.(937-939)ttC>ttT	p.F313F	DMRTC2_uc002orr.1_Silent_p.F190F|DMRTC2_uc002ors.3_Intron	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	275	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						AGCGGGGGTTCCCAGTCTGCT	0.617000														79			24		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518778	113518778	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:113518778C>T	uc010ljy.1	-	3	2400	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	790					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TACTGTATCTCGTTGACAAAG	0.398000														63			19		0	0	1	0	0
EHF	26298	broad.mit.edu	37	11	34668007	34668007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:34668007G>A	uc021qfu.1	+	2	311	c.185G>A	c.(184-186)gGc>gAc	p.G62D	EHF_uc001mvr.2_Missense_Mutation_p.G40D|EHF_uc009yke.2_Missense_Mutation_p.G40D|EHF_uc009ykf.2_Missense_Mutation_p.G43D	NM_001206616	NP_001193545	Q9NZC4	EHF_HUMAN	Homo sapiens ets homologous factor (EHF), transcript variant 1, mRNA.	40	PNT.				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			TTTTTTGGAGGCCAGTGGCAT	0.527000														65			55		0	0	1	0	0
PDLIM3	27295	broad.mit.edu	37	4	186429496	186429496	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:186429496G>A	uc003ixw.4	-	4	743	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	PDLIM3_uc003ixx.4_Intron|PDLIM3_uc010isi.3_Intron	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	Homo sapiens PDZ and LIM domain 3 (PDLIM3), transcript variant 1, mRNA.	207						sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		ACCTGACCCTGGAGTGTTTCC	0.418000														96			40		0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115439700	115439700	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:115439700G>A	uc003ebr.2	+	3	1470	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	GAP43_uc003ebq.2_Missense_Mutation_p.E230K	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	230					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		TAAAGAAGAGGAACCTGAGGC	0.507000														314			20		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118598527	118598527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:118598527C>T	uc001ehk.2	-	18	2619	c.2551G>A	c.(2551-2553)Gaa>Aaa	p.E851K	SPAG17_uc021oss.1_Intron	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	851						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCAACAAGTTCCAAATAATTC	0.318000														63			28		0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203144855	203144855	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203144855G>A	uc001gzh.1	-	0	88	c.29C>T	c.(28-30)cCt>cTt	p.P10L		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	Homo sapiens myosin binding protein H (MYBPH), mRNA.	10					cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		ACTGCAGGCAGGGCCCTCGGA	0.627000														86			39		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	54025254	54025254	+	Silent	SNP	C	T	T	rs148643501	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54025254C>T	uc002acj.2	-	1	135	c.93G>A	c.(91-93)acG>acA	p.T31T	WDR72_uc010bfi.1_Silent_p.T31T	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	31										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CAGTCACAATCGTTCGCTGGT	0.512000														110			40		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	344305	344305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:344305C>T	uc001qic.2	-	6	872	c.782G>A	c.(781-783)gGa>gAa	p.G261E	SLC6A13_uc009zdj.2_Missense_Mutation_p.G261E|SLC6A13_uc010sdl.2_Missense_Mutation_p.G169E|SLC6A13_uc010sdm.1_Missense_Mutation_p.G142E	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	261					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AAACTGAATTCCTTGGGCTGC	0.557000														69			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073656	9073656	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9073656G>A	uc002mkp.3	-	2	13994	c.13790C>T	c.(13789-13791)tCc>tTc	p.S4597F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4599	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						AGTCAGGGAGGATGTTGGCTC	0.512000														36			19		0	0	1	0	0
RHBDD1	84236	broad.mit.edu	37	2	227731973	227731973	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:227731973C>T	uc021vxo.1	+	4	1029	c.505C>T	c.(505-507)Cct>Tct	p.P169S	RHBDD1_uc002voi.3_Missense_Mutation_p.P169S|RHBDD1_uc010fxc.3_Missense_Mutation_p.P169S	NM_001167608	NP_115652	Q8TEB9	RHBD1_HUMAN	Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript variant 2, mRNA.	169						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTTGGGCTTTCCTGTACCGAA	0.393000														203			65		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56490890	56490890	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56490890G>A	uc002qmh.3	+	8	3078	c.3007G>A	c.(3007-3009)Gag>Aag	p.E1003K	NLRP8_uc010etg.3_Missense_Mutation_p.E984K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	1003						cytoplasm	ATP binding	p.C1002C(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GACCTTGTGCGAGGCCTTCTC	0.478000														106			42		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6661841	6661841	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6661841C>T	uc001mem.1	-	1	1405	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	335	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R335R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACCATCTCGTGCTTGCAC	0.587000														80			50		0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9296535	9296535	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9296535C>T	uc002mkz.1	+	0	266	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	26					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F26L(2)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TACAGCCGTTCATATTTGGGC	0.493000														54			29		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127686617	127686617	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:127686617C>T	uc003kuu.3	-	20	3194	c.2755G>A	c.(2755-2757)Gaa>Aaa	p.E919K	FBN2_uc003kuv.2_Missense_Mutation_p.E886K	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	919	TB 4.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.S918Y(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCACAGCATTCAGATTTCAGA	0.552000														80			28		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21063133	21063133	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21063133G>A	uc010vbe.2	-	28	4096	c.4096C>T	c.(4096-4098)Caa>Taa	p.Q1366*		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1366	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAGATCCATTGGAAATCATTC	0.527000														91			43		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916742	42916742	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42916742C>T	uc003cmh.3	-	0	892	c.567G>A	c.(565-567)acG>acA	p.T189T	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	189					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)		CCTTGTCCTTCGTGTAGCCGA	0.522000														80			17		0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	527691	527691	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:527691C>T	uc003gak.4	+	11	2792	c.2656C>T	c.(2656-2658)Ctg>Ttg	p.L886L	PIGG_uc003gaj.4_Silent_p.L878L|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Silent_p.L753L|PIGG_uc003gal.4_Silent_p.L797L	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	886					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						AGCCGTGCTCCTGACAGCGTT	0.592000														49			28		0	0	1	0	0
TNNI2	7136	broad.mit.edu	37	11	1862727	1862727	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1862727C>T	uc021qbv.1	+	6	517	c.495C>T	c.(493-495)atC>atT	p.I165I	TNNI2_uc021qbt.1_Silent_p.I144I|TNNI2_uc021qbu.1_Silent_p.I144I|TNNI2_uc010qxe.1_Silent_p.I165I	NM_003282	NP_003273	P48788	TNNI2_HUMAN	Homo sapiens troponin I type 2 (skeletal, fast) (TNNI2), transcript variant 1, mRNA.	165					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAAGAACATCGAGGAGAAGT	0.642000														53			19		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167162335	167162335	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:167162335C>T	uc010fpl.3	-	4	904	c.563G>A	c.(562-564)tGg>tAg	p.W188*	SCN9A_uc002udr.1_Nonsense_Mutation_p.W59*|SCN9A_uc002uds.1_Nonsense_Mutation_p.W59*|SCN9A_uc002udt.1_Nonsense_Mutation_p.W59*	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	188						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGCCAGTTCCACGGGTCACG	0.373000														62			20		0	0	1	0	0
KRT27	342574	broad.mit.edu	37	17	38935980	38935980	+	Missense_Mutation	SNP	C	A	A	rs76225348	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:38935980C>A	uc002hvg.3	-	3	859	c.818G>T	c.(817-819)aGg>aTg	p.R273M		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	273	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CTCCGCGTCCCTGCGGTTCTG	0.642000														20			11		2.27111e-07	2.2764e-07	1	1	0
WDR75	84128	broad.mit.edu	37	2	190327291	190327291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:190327291C>T	uc002uql.1	+	8	920	c.860C>T	c.(859-861)cCg>cTg	p.P287L	WDR75_uc002uqm.1_Missense_Mutation_p.P223L|WDR75_uc002uqn.1_Missense_Mutation_p.P65L	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	287						nucleolus		p.P287Q(4)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			GAGTTTCTCCCGCGTTTAGGA	0.428000														115			50		0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63277357	63277357	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63277357C>T	uc001nxc.2	+	3	890	c.549C>T	c.(547-549)ttC>ttT	p.F183F	LGALS12_uc001nxa.2_Silent_p.F182F|LGALS12_uc001nxb.2_Silent_p.F182F|LGALS12_uc001nxd.2_Silent_p.F121F|LGALS12_uc001nxe.2_Silent_p.F121F|LGALS12_uc009yot.2_Silent_p.F142F	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	182	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CTGTTGGATTCCTGAACATCA	0.557000														24			5		0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125591686	125591686	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:125591686C>T	uc001uhc.3	+	7	993	c.787C>T	c.(787-789)Ctt>Ttt	p.L263F	AACS_uc009zyg.2_Non-coding_Transcript|AACS_uc001uhd.3_Missense_Mutation_p.L263F|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	263					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GGATGACTTTCTTGCCACCGG	0.607000														60			25		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324972	152324972	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152324972G>A	uc001ezw.4	-	2	5363	c.5290C>T	c.(5290-5292)Cat>Tat	p.H1764Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1764							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)			TGTCTCTCATGAACTATGGAT	0.507000														254			93		0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89658656	89658656	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:89658656C>T	uc001dnb.3	-	4	717	c.601G>A	c.(601-603)Gag>Aag	p.E201K		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	201						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AACTTTAGCTCCAGGGTAAAA	0.493000														94			32		0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1428303	1428303	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:1428303G>A	uc010nct.2	+	13	1456	c.1134G>A	c.(1132-1134)tgG>tgA	p.W378*	CRLF2_uc022brt.1_Intron|CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_Nonsense_Mutation_p.W378*|CSF2RA_uc004cpo.2_Nonsense_Mutation_p.W378*|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Nonsense_Mutation_p.W245*|CSF2RA_uc004cpp.2_Missense_Mutation_p.G319R|CSF2RA_uc010ncv.2_Nonsense_Mutation_p.W412*|CSF2RA_uc004cpr.2_3'UTR	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	378						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGATCATCTGGGAGGAATTCA	0.512000														76			39		0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650927	90650927	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:90650927C>T	uc001xye.1	+	1	1249	c.807C>T	c.(805-807)gtC>gtT	p.V269V		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	269						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TCATGGGTGTCTGCTGCATCT	0.532000														88			36		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180280	124180280	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124180280C>T	uc010sag.2	-	0	383	c.383G>A	c.(382-384)aGc>aAc	p.S128N		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	128					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)		AAGCAGTGGGCTACAGATGGC	0.498000														26			6		0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701557	143701558	+	Silent	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143701557_143701558CC>TT	uc003wdt.1	+	0	468_469	c.468_469CC>TT	c.(466-471)tccctg>tcTTtg	p.156_157SL>SL		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TTGGCATCTCCCTGGCGAAGAT	0.535000														46			27		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33895342	33895342	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:33895342C>T	uc001zhi.3	+	17	2011	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	RYR3_uc010bar.3_Silent_p.F647F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	647	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAACATCTTCCTGGGAGTCG	0.522000														109			22		0	0	1	0	0
ANKRD2	26287	broad.mit.edu	37	10	99343372	99343372	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:99343372G>A	uc001knw.3	+	8	1182	c.973G>A	c.(973-975)Gct>Act	p.A325T	PI4K2A_uc001knx.2_5'Flank|PI4K2A_uc001kny.3_5'Flank|PI4K2A_uc001knz.3_5'Flank|PI4K2A_uc010qoy.1_5'Flank|ANKRD2_uc009xvu.3_Missense_Mutation_p.A292T	NM_020349	NP_065082	Q9GZV1	ANKR2_HUMAN	Homo sapiens ankyrin repeat domain 2 (stretch responsive muscle) (ANKRD2), transcript variant 1, mRNA.	325					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GCTCTGGCAGGCTGATACCCG	0.647000														14			8		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140494159	140494159	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:140494159G>A	uc003vwc.4	-	7	1150	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	363					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		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)	GAGCTGATGAGGATCGGTCTC	0.408000		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					93			33		0	0	1	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309848	22309848	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22309848G>A	uc001wbx.2	+	1	333	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 232.																		CAGTGGTAATGAAGATGGAAG	0.463000														99			31		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903178	6903178	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:6903178C>T	uc003bqm.2	+	0	377	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Nonsense_Mutation_p.Q35*|GRM7_uc003bql.2_Nonsense_Mutation_p.Q35*	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	35					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGCGCGCGGCCAGGAGATGTA	0.701000														4			3		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597061	136597061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:136597061C>T	uc003qgx.1	-	4	1855	c.1602G>A	c.(1600-1602)agG>agA	p.R534R	BCLAF1_uc003qgy.1_Silent_p.R532R|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.R532R|BCLAF1_uc003qgw.1_Silent_p.R361R	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	534					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R534S(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCATTTTGATCCTAAGTGGGC	0.433000														264			45		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80615938	80615938	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:80615938C>T	uc001szd.3	+	5	381	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTGAAACATTCGATGGCATCT	0.413000														75			24		0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52699168	52699168	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52699168G>A	uc010snq.2	+	5	1013	c.880G>A	c.(880-882)Gag>Aag	p.E294K	KRT86_uc009zmg.3_Missense_Mutation_p.E294K|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.E294K	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	294	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCTGAGGCCGAGTCCTGGTA	0.537000														85			25		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229372	140229372	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140229372G>A	uc003lhu.2	+	0	2016	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D	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_uc003lht.1_Missense_Mutation_p.G431D	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	445	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)			CGGGACGGGGGCTCGCCTTCA	0.632000														87			14		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104511098	104511098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:104511098G>A	uc003hxe.1	-	4	1280	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	380						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATCATAGCTGGAAACTTTGAT	0.453000														69			19		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36122792	36122792	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:36122792G>A	uc004ddk.1	+	7	1215	c.1029G>A	c.(1027-1029)tgG>tgA	p.W343*		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	343						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						ATGTGATATGGAAAAACTGTC	0.328000														34			7		0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51693482	51693482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51693482C>T	uc001ryg.3	-	5	477	c.425G>A	c.(424-426)cGg>cAg	p.R142Q	BIN2_uc009zlz.3_Missense_Mutation_p.R110Q|BIN2_uc001ryh.3_Missense_Mutation_p.R18Q|BIN2_uc010sng.2_Missense_Mutation_p.R116Q	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	142	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TTTCCGACCCCGCTTGGCAAT	0.498000														88			55		0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185165676	185165676	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:185165676C>T	uc010hyf.3	+	5	1242	c.951C>T	c.(949-951)gtC>gtT	p.V317V	MAP3K13_uc011brt.2_Silent_p.V110V|MAP3K13_uc003fph.4_Silent_p.V85V|MAP3K13_uc011bru.2_Silent_p.V173V|MAP3K13_uc003fpi.3_Silent_p.V317V|MAP3K13_uc010hyg.3_Silent_p.V7V	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	317	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding	p.V317F(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CTGGCACGGTCGCATGGATGG	0.448000														43			6		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	20998675	20998675	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:20998675C>T	uc001bdr.4	-	11	2596	c.2478G>A	c.(2476-2478)gaG>gaA	p.E826E	KIF17_uc001bdp.4_Silent_p.E104E|KIF17_uc009vpx.3_Silent_p.E196E|KIF17_uc001bds.4_Silent_p.E826E	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	826					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGATCTCCACCTCTGCTGCCC	0.557000														27			9		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8176871	8176871	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8176871G>A	uc002mjf.3	-	29	3968	c.3951C>T	c.(3949-3951)ttC>ttT	p.F1317F		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1317	EGF-like 19; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTGACATTCGAAGCCATCCC	0.637000														60			35		0	0	1	0	0
TM4SF18	116441	broad.mit.edu	37	3	149040164	149040164	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:149040164C>T	uc021xfl.1	-	3	560	c.470G>A	c.(469-471)tGg>tAg	p.W157*	TM4SF18_uc003exa.3_Nonsense_Mutation_p.W157*	NM_001184723	NP_620141	Q96CE8	T4S18_HUMAN	Homo sapiens transmembrane 4 L six family member 18 (TM4SF18), transcript variant 2, mRNA.	157						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AATGATGTTCCACTCCACAAC	0.443000														82			8		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168112721	168112721	+	Missense_Mutation	SNP	C	T	T	rs143177032		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:168112721C>T	uc010jjg.3	-	30	3967	c.3547G>A	c.(3547-3549)Gtc>Atc	p.V1183I	SLIT3_uc003mab.3_Missense_Mutation_p.V1176I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1176	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGGGTCGGACCTTGGCGGAG	0.607000														65			26		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77286782	77286782	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77286782C>T	uc004aji.3	+	8	1271	c.1222C>T	c.(1222-1224)Cag>Tag	p.Q408*	RORB_uc004ajh.3_Nonsense_Mutation_p.Q397*	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	408	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACATGTGATTCAGAAGAATCA	0.443000														42			20		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940775	22940775	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22940775C>T	uc021urt.1	-	3	2091	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.E646*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAGGGTTTCTCTCCAGTATGA	0.368000														65			24		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756197	10756197	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10756197C>T	uc003wtk.1	-	2	1218	c.1191G>A	c.(1189-1191)atG>atA	p.M397I		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	397						integral to membrane		p.M397I(2)|p.M397V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TCCAGAAGGCCATGGCGCACC	0.512000														60			7		0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241569435	241569435	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241569435C>T	uc010fzi.2	+	5	1031	c.159C>T	c.(157-159)ggC>ggT	p.G53G	GPR35_uc010fzh.2_Silent_p.G53G|GPR35_uc021vze.1_Silent_p.G22G|GPR35_uc002vzs.2_Silent_p.G22G	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	22						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TCAAGCTGGGCTTCTACGCCT	0.647000														65			31		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149482623	149482623	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149482623G>A	uc010lpk.3	+	21	3039	c.3039G>A	c.(3037-3039)cgG>cgA	p.R1013R	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1013	VWFD 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCAGTGGGCGGTGCCAGGCAT	0.672000														8			4		0	0	1	0	0
PMPCA	23203	broad.mit.edu	37	9	139313499	139313499	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139313499C>T	uc004chl.3	+	10	1209	c.1204C>T	c.(1204-1206)Cga>Tga	p.R402*	PMPCA_uc011mdz.2_Nonsense_Mutation_p.R271*|PMPCA_uc010nbl.3_Nonsense_Mutation_p.R302*|PMPCA_uc004chm.1_Nonsense_Mutation_p.R152*|PMPCA_uc004chn.1_5'UTR	NM_015160	NP_055975	Q10713	MPPA_HUMAN	Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA.	402					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TTCGCAGGTTCGAGAAATGGT	0.567000														96			18		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20585969	20585969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:20585969G>A	uc002wrz.3	-	14	2031	c.1888C>T	c.(1888-1890)Ctc>Ttc	p.L630F	RALGAPA2_uc002wry.3_Missense_Mutation_p.L245F|RALGAPA2_uc010zsg.2_Missense_Mutation_p.L31F	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	630					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CATTCCGTGAGGGAGGACAGC	0.483000														42			12		0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163027502	163027502	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:163027502G>A	uc002ucd.3	-	25	2478	c.2270C>T	c.(2269-2271)tCt>tTt	p.S757F	FAP_uc010fpc.3_Missense_Mutation_p.S306F|FAP_uc010zct.2_Missense_Mutation_p.S732F	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	757					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GTCTGACAAAGAGAAACACTG	0.413000														149			15		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95602890	95602890	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:95602890C>A	uc001tdp.4	-	1	2394	c.2170G>T	c.(2170-2172)Gac>Tac	p.D724Y	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	724					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AGCATTTGGTCATCCAAAGAC	0.463000														107			19		4.63292e-17	4.65588e-17	1	1	0
PGLYRP3	114771	broad.mit.edu	37	1	153274984	153274984	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153274984G>A	uc001fbn.1	-	4	682	c.629C>T	c.(628-630)gCt>gTt	p.A210V		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	210					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTTGTGCCAGCGGTGTGGAT	0.488000														86			45		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56235370	56235370	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56235370G>A	uc002qly.3	-	3	2163	c.2135C>T	c.(2134-2136)cCa>cTa	p.P712L		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	712						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTTGCACATTGGATGTTTCAG	0.478000														68			47		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2367709	2367709	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2367709G>A	uc002cpy.1	-	8	1642	c.930C>T	c.(928-930)ctC>ctT	p.L310L	ABCA3_uc010bsk.1_Silent_p.L310L|ABCA3_uc010bsl.1_Silent_p.L310L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	310					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GGAAGAACAAGAGGAACCAGG	0.627000														69			6		0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48419867	48419867	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48419867C>T	uc003csr.3	+	5	652	c.466C>T	c.(466-468)Cct>Tct	p.P156S	FBXW12_uc010hjv.3_Missense_Mutation_p.P137S|FBXW12_uc003css.3_Intron|FBXW12_uc010hjw.3_Intron|Metazoa_SRP_uc021wxm.1_5'Flank	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	156										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGTAACCCTCCCTCAGATGCA	0.507000														56			6		0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114202624	114202624	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:114202624C>T	uc001vtu.4	+	11	2138	c.1777C>T	c.(1777-1779)Ctg>Ttg	p.L593L		NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	Homo sapiens transmembrane and coiled-coil domains 3 (TMCO3), mRNA.	593						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GCAGTTTCTCCTGGCGGCGCT	0.557000														64			18		0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78335025	78335025	+	Nonsense_Mutation	SNP	C	T	T	rs142633526		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:78335025C>T	uc010thy.1	+	5	1028	c.985C>T	c.(985-987)Cga>Tga	p.R329*	SLAIN1_uc001vkk.2_Nonsense_Mutation_p.R252*|SLAIN1_uc010thz.1_Nonsense_Mutation_p.R207*|SLAIN1_uc001vkl.1_Nonsense_Mutation_p.R208*|SLAIN1_uc010aex.1_Nonsense_Mutation_p.R94*|SLAIN1_uc010aey.1_Nonsense_Mutation_p.R94*|SLAIN1_uc001vkm.2_Nonsense_Mutation_p.R208*	NM_001040153	NP_653196	Q8ND83	SLAI1_HUMAN	Homo sapiens SLAIN motif family, member 1 (SLAIN1), transcript variant 1, mRNA.	471								p.R252*(1)|p.P329H(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AGTGTCTATCCGACAGCCTCT	0.478000														109			37		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3424448	3424448	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3424448G>A	uc001akl.3	-	13	1927	c.1700C>T	c.(1699-1701)tCc>tTc	p.S567F	MEGF6_uc001akk.3_Missense_Mutation_p.S462F	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	567	EGF-like 10.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		ACAGCTGCAGGAGAAGCTGCA	0.602000														54			21		0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133805038	133805038	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:133805038C>T	uc004bzz.3	-	1	713	c.468G>A	c.(466-468)acG>acA	p.T156T	FIBCD1_uc011mcc.2_Silent_p.T156T|FIBCD1_uc011mcd.1_Silent_p.T164T	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	156					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CCATGCACTCCGTCTGCAGCT	0.721000														21			8		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38765020	38765020	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38765020C>T	uc003ciq.3	-	17	3253	c.3253G>A	c.(3253-3255)Gag>Aag	p.E1085K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1085					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTGCTGCCCTCAGAGGAGCTT	0.597000														13			4		0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47193357	47193357	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:47193357C>T	uc003bib.3	+	3	643	c.477C>T	c.(475-477)gcC>gcT	p.A159A	TBC1D22A_uc010haf.3_Silent_p.A129A|TBC1D22A_uc003bie.3_Intron|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Silent_p.A112A	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	159						intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CCAGCGATGCCGCCCCTCTGC	0.632000											OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		128			39		0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55614869	55614869	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55614869C>T	uc010spf.2	+	0	61	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TACAAACAACCCCGAGATGCA	0.373000														233			33		0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85799849	85799849	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:85799849G>A	uc003yct.4	+	7	869	c.735G>A	c.(733-735)aaG>aaA	p.K245K	RALYL_uc003ycq.4_Silent_p.K232K|RALYL_uc003ycr.4_Silent_p.K232K|RALYL_uc003ycs.4_Silent_p.K232K|RALYL_uc010lzy.3_Silent_p.K221K|RALYL_uc003ycu.4_Silent_p.K159K	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	232							RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						AAGCTCAGAAGAAGCAATTGG	0.483000														67			5		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152394450	152394450	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152394450C>T	uc021vrb.1	-	110	15964	c.15935G>A	c.(15934-15936)tGg>tAg	p.W5312*	NEB_uc002txr.3_Nonsense_Mutation_p.W1778*|NEB_uc002txu.3_Nonsense_Mutation_p.W7013*|NEB_uc021vrc.1_Nonsense_Mutation_p.W7013*|NEB_uc010fnx.3_Nonsense_Mutation_p.W5300*|NEB_uc021vrd.1_Nonsense_Mutation_p.W5312*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5312					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATGGACCTCCAGATACCCAA	0.393000														38			12		0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104230440	104230440	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104230440C>T	uc001kvt.3	+	4	489	c.270C>T	c.(268-270)tcC>tcT	p.S90S	TMEM180_uc001kvs.3_Intron|TMEM180_uc010qql.2_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.3_Silent_p.S90S	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	Homo sapiens transmembrane protein 180 (TMEM180), mRNA.	90						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCGGGCTCTCCTCAAGGGCTG	0.697000														135			32		0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46656397	46656397	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46656397C>T	uc003oyj.3	+	0	786	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	TDRD6_uc010jze.3_Missense_Mutation_p.R178C	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	178					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	p.R178C(2)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCTGCTCCATCGCCTGGTCCT	0.682000														75			22		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53766094	53766094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:53766094C>T	uc003dgv.4	+	17	2621	c.2458C>T	c.(2458-2460)Cct>Tct	p.P820S	CACNA1D_uc003dgu.4_Missense_Mutation_p.P840S|CACNA1D_uc003dgy.4_Missense_Mutation_p.P820S|CACNA1D_uc003dgw.4_Missense_Mutation_p.P487S|CACNA1D_uc003dgx.1_5'UTR	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	820					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCCCTATCCGCCTTGCGATGT	0.537000														68			7		0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786502	19786502	+	Silent	SNP	C	T	T	rs144667976		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:19786502C>T	uc003zoa.2	-	0	516	c.363G>A	c.(361-363)ccG>ccA	p.P121P	SLC24A2_uc003zob.2_Silent_p.P121P	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	121					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AGATGTCTTTCGGGTAGTCTC	0.428000														92			9		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55493984	55493984	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55493984G>A	uc021vbq.1	+	5	1029	c.918G>A	c.(916-918)ggG>ggA	p.G306G	NLRP2_uc010yfp.2_Silent_p.G283G|NLRP2_uc002qij.3_Silent_p.G306G|NLRP2_uc010esp.3_Silent_p.G284G|NLRP2_uc010esn.3_Silent_p.G282G|NLRP2_uc010eso.3_Silent_p.G303G	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	306	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACATCTGCGGGGACTGGGAGA	0.612000														53			25		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701746	103701746	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:103701746G>A	uc001vpy.4	-	4	1409	c.812C>T	c.(811-813)tCc>tTc	p.S271F		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	271					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AACGATGGTGGAACATAGCTG	0.463000														72			23		0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81050844	81050844	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81050844C>T	uc001kaf.2	+	9	1241	c.669C>T	c.(667-669)ttC>ttT	p.F223F	ZMIZ1_uc001kag.2_Silent_p.F99F|ZMIZ1_uc001kah.1_Silent_p.F99F	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	223					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGCAGCAGTTCTCAGCCAAGG	0.662000														67			39		0	0	1	0	0
C16orf92	146378	broad.mit.edu	37	16	30035190	30035190	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30035190C>T	uc002dvr.2	+	1	214	c.207C>T	c.(205-207)atC>atT	p.I69I	BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvs.2_Silent_p.I91I	NM_001109659	NP_001103129	Q96LL3	CP092_HUMAN	Homo sapiens chromosome 16 open reading frame 92 (C16orf92), transcript variant 1, mRNA.	91						integral to membrane				breast(3)|lung(3)	6						AGAAACCCATCGTGTTCATTA	0.557000														43			5		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57257945	57257945	+	Missense_Mutation	SNP	C	T	T	rs147103664		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57257945C>T	uc001cym.4	-	1	947	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.E181K	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	181								p.E181K(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTCCTGGGTTCCTCTGGAGTA	0.488000														126			10		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130934774	130934774	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:130934774C>T	uc001uil.2	-	5	717	c.501G>A	c.(499-501)ggG>ggA	p.G167G	RIMBP2_uc001uim.3_Silent_p.G75G	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	167	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGTGGACCTTCCCCGAGTATC	0.562000														25			4		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50290710	50290710	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:50290710G>A	uc002xwg.1	-	10	1019	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	ATP9A_uc010gih.1_Missense_Mutation_p.S204F|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	340					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GATGATGTTGGAAAACAAGAG	0.512000														60			15		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74274418	74274418	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:74274418C>T	uc003hgs.4	+	3	451	c.378C>T	c.(376-378)ttC>ttT	p.F126F	ALB_uc011cbe.2_Intron|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Silent_p.F16F	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	126	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.C125R(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	ATGAATGCTTCTTGCAACACA	0.423000														36			20		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8185497	8185497	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:8185497G>A	uc003wsh.4	-	3	2795	c.2795C>T	c.(2794-2796)aCc>aTc	p.T932I		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	932							ATP binding|non-membrane spanning protein tyrosine kinase activity										CTGAAGCTGGGTGCTCCCGGT	0.657000														47			11		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5363817	5363817	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5363817C>T	uc001map.1	-	1	939	c.939_splice	c.e1+1	p.*313_splice	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.*313*	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTGGAGATCAGGTTCCAAT	0.383000														71			7		0	0	1	0	0
CIB3	117286	broad.mit.edu	37	19	16280507	16280507	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16280507G>A	uc002nds.3	-	2	132	c.132C>T	c.(130-132)ctC>ctT	p.L44L	CIB3_uc010eae.3_5'UTR|CIB3_uc010eaf.3_Intron|CIB3_uc010eag.3_Intron	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	44							calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						TGGTATAGTCGAGGGGCACGA	0.587000														35			6		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77662426	77662426	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77662426G>A	uc011cbx.2	+	4	4053	c.3100G>A	c.(3100-3102)Gag>Aag	p.E1034K	SHROOM3_uc011cbz.1_Missense_Mutation_p.E858K|SHROOM3_uc003hkf.1_Missense_Mutation_p.E909K|SHROOM3_uc003hkg.3_Missense_Mutation_p.E812K	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1034					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GATCGTGGAGGAGGCCGAACC	0.692000														36			7		0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74087233	74087233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74087233G>A	uc002jqs.3	-	6	987	c.892C>T	c.(892-894)Cct>Tct	p.P298S	EXOC7_uc010dgv.2_Missense_Mutation_p.P245S|EXOC7_uc010wsv.2_Missense_Mutation_p.P257S|EXOC7_uc010wsw.2_Missense_Mutation_p.P298S|EXOC7_uc002jqq.3_Missense_Mutation_p.P298S|EXOC7_uc010wsx.2_Intron|EXOC7_uc002jqr.3_Intron	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	298					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CCTTCCAGAGGAATGAGGTTA	0.577000														178			50		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018929	62018929	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62018929G>A	uc002jds.1	-	23	4790	c.4713C>T	c.(4711-4713)ccC>ccT	p.P1571P		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1571					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGCCGATGGAGGGGTTGCCGC	0.577000														51			5		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7231040	7231040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7231040C>T	uc003mxb.3	+	9	3200	c.2708C>T	c.(2707-2709)tCg>tTg	p.S903L	RREB1_uc021yky.1_Missense_Mutation_p.S903L|RREB1_uc003mxc.3_Missense_Mutation_p.S903L|RREB1_uc010jnx.3_Missense_Mutation_p.S903L|RREB1_uc021ykz.1_Missense_Mutation_p.S903L|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	903					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGGACTTCTCGCAGAAGGGC	0.597000														79			33		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39230877	39230877	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:39230877C>T	uc003cjk.2	-	1	289	c.60G>A	c.(58-60)gaG>gaA	p.E20E	XIRP1_uc003cji.3_Silent_p.E20E|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.E20E	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	20	Interaction with VASP.						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)		GGGGCAGGTCCTCTGCAGTTG	0.617000														35			20		0	0	1	0	0
TTC9C	283237	broad.mit.edu	37	11	62502996	62502996	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62502996C>T	uc001nux.3	+	2	1032	c.780C>T	c.(778-780)gcC>gcT	p.A260A	TTC9C_uc001nuy.3_Silent_p.A127A	NM_173810	NP_776171	Q8N5M4	TTC9C_HUMAN	Homo sapiens tetratricopeptide repeat domain 9C (TTC9C), mRNA.	127							binding			breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						ATGACCAGGCCCGCCACTACC	0.512000														23			15		0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26158069	26158069	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:26158069C>T	uc022bub.1	+	0	967	c.967C>T	c.(967-969)Cat>Tat	p.H323Y	MAGEB18_uc004dbq.2_Missense_Mutation_p.H323Y	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	323							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGCCAGGGCTCATACTGCTGC	0.502000														9			7		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94032059	94032059	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:94032059G>A	uc011cdt.2	+	3	948	c.690G>A	c.(688-690)gcG>gcA	p.A230A	GRID2_uc010ikx.3_Silent_p.A230A|GRID2_uc011cdu.2_Silent_p.A135A|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	230					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTAGGCGAGCGATCCTTGTTA	0.383000														100			24		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141044607	141044607	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:141044607C>T	uc003llm.3	-	18	2760	c.2682G>A	c.(2680-2682)tgG>tgA	p.W894*	ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Nonsense_Mutation_p.W556*|ARAP3_uc003lln.3_Nonsense_Mutation_p.W796*	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	894					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	p.W894*(2)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGGCTGCGTTCCATGCCGTGA	0.652000											OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			12		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898852	37898852	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:37898852C>T	uc002hsr.3	+	2	464	c.189C>T	c.(187-189)tcC>tcT	p.S63S	GRB7_uc002hss.3_Silent_p.S63S|GRB7_uc021twu.1_Silent_p.S86S|GRB7_uc010cwc.3_Silent_p.S63S|GRB7_uc002hst.3_Silent_p.S63S	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	63					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTGCCACCTCCCTCCCCTCTA	0.627000														90			63		0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154917523	154917523	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154917523G>A	uc001ffr.3	-	10	2232	c.2173C>T	c.(2173-2175)Cac>Tac	p.H725Y	PBXIP1_uc001ffs.3_Missense_Mutation_p.H696Y|PBXIP1_uc010pep.2_Missense_Mutation_p.H570Y	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	725	His-rich.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	p.H725R(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGTGGTGGTGGCTATGGCTG	0.642000														47			20		0	0	1	0	0
IL23A	51561	broad.mit.edu	37	12	56733246	56733246	+	Missense_Mutation	SNP	G	A	A	rs150940553		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56733246G>A	uc001sla.3	+	1	365	c.199G>A	c.(199-201)Gat>Aat	p.D67N		NM_016584	NP_057668	Q9NPF7	IL23A_HUMAN	Homo sapiens interleukin 23, alpha subunit p19 (IL23A), mRNA.	67					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity	p.N66S(1)		kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						GACTACAAATGATGTTCCCCA	0.493000														58			15		0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50884459	50884459	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:50884459G>A	uc001zyt.4	-	25	4255	c.3973C>T	c.(3973-3975)Ccc>Tcc	p.P1325S	TRPM7_uc010bew.2_Missense_Mutation_p.P1325S	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	1325					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTACACTGGGGATCTTTGTCA	0.378000														86			39		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004305	74004305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74004305C>T	uc010wss.1	-	21	5275	c.5047G>A	c.(5047-5049)Gac>Aac	p.D1683N	EVPL_uc002jqi.2_Missense_Mutation_p.D1661N|EVPL_uc010wst.1_Missense_Mutation_p.D1131N	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1661	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCGTGGAGGTCCCGGAGCGTC	0.672000														63			25		0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31337958	31337958	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31337958G>A	uc003aje.1	-	8	1796	c.432C>T	c.(430-432)ctC>ctT	p.L144L		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	206							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CATTATCCATGAGTTTGAGAT	0.498000														125			61		0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40946922	40946922	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:40946922G>A	uc003gvn.3	-	6	1634	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	APBB2_uc010ifu.3_5'UTR|APBB2_uc003gvl.3_Missense_Mutation_p.S334L|APBB2_uc003gvm.3_Missense_Mutation_p.S334L|APBB2_uc011byt.1_Missense_Mutation_p.S317L	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	334					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AGAACTAAGTGACCCTTTCCT	0.493000														87			20		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13692204	13692204	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13692204C>T	uc003jfd.2	-	78	13806	c.13764G>A	c.(13762-13764)aaG>aaA	p.K4588K	DNAH5_uc003jfc.2_Silent_p.K756K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4588					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)					GAACTGGCTTCTTATAGATGG	0.478000									Kartagener syndrome					73			29		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48813009	48813009	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:48813009G>A	uc001zwx.2	-	9	1389	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	332					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TATCCTGGGCGAACATCTGAG	0.517000														53			22		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69978115	69978115	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:69978115C>T	uc001opj.3	+	10	1493	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Silent_p.A368A|ANO1_uc010rqk.2_Silent_p.A131A	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	396					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CAGCCTGCGCCACGGCCCGCG	0.582000														11			8		0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358659	72358659	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72358659G>A	uc009xqg.3	-	2	979	c.818C>T	c.(817-819)tCt>tTt	p.S273F	PRF1_uc001jrf.4_Missense_Mutation_p.S273F	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	273	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCTTCGGCAGAGATGCTGCC	0.622000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					86			24		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52131211	52131211	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52131211G>A	uc002pxe.3	-	4	1012	c.873C>T	c.(871-873)acC>acT	p.T291T		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	291	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGGAGATGGGGGTGGCGTTCA	0.642000														112			43		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22453567	22453567	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22453567C>T	uc021wml.1	+	6		c.688C>T								Parts of antibodies, mostly variable regions.																		CACGGGGGCCCAGGCAGATGA	0.488000														103			32		0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817742	77817742	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77817742C>T	uc003hki.3	-	0	1261	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	421																	TGCAGCCCCTCTTCAGAAGCC	0.607000														154			9		0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9489635	9489635	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:9489635C>T	uc003brt.3	+	14	2483	c.2048C>T	c.(2047-2049)tCa>tTa	p.S683L	SETD5_uc003brs.1_Missense_Mutation_p.S664L|SETD5_uc003bru.3_Missense_Mutation_p.S585L|SETD5_uc003brv.3_Missense_Mutation_p.S572L|SETD5_uc010hck.3_Missense_Mutation_p.S165L|SETD5_uc003brx.3_Missense_Mutation_p.S352L	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	683										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACTGTGGTGTCAATTACTGGA	0.453000														20			10		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31810843	31810843	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:31810843G>A	uc001ivs.4	+	6	2643	c.2580G>A	c.(2578-2580)gtG>gtA	p.V860V	ZEB1_uc001ivr.4_Silent_p.V642V|ZEB1_uc010qef.2_Silent_p.V642V|ZEB1_uc009xlj.1_Silent_p.V786V|ZEB1_uc010qeg.1_Silent_p.V719V|ZEB1_uc009xlk.1_Silent_p.V642V|ZEB1_uc001ivu.4_Silent_p.V861V|ZEB1_uc010qeh.2_Silent_p.V793V|ZEB1_uc001ivv.4_Silent_p.V840V|ZEB1_uc001ivt.4_Silent_p.V642V|ZEB1_uc009xlo.2_Silent_p.V843V|ZEB1_uc009xlp.3_Silent_p.V844V	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	860					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CCTTGAAAGTGATCCAGCCAA	0.418000														53			23		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121693987	121693987	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:121693987C>T	uc003vjy.3	+	25	6671	c.6276C>T	c.(6274-6276)ttC>ttT	p.F2092F	PTPRZ1_uc011knt.2_Silent_p.F1232F|PTPRZ1_uc003vjz.3_Silent_p.F1225F	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	2092	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GCAATGAATTCATCATTACCC	0.413000														154			63		0	0	1	0	0
SS18	6760	broad.mit.edu	37	18	23615043	23615043	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:23615043G>A	uc002kvm.3	-	8	1100	c.1022C>T	c.(1021-1023)cCa>cTa	p.P341L	SS18_uc002kvn.3_Missense_Mutation_p.P310L|SS18_uc010xbf.2_Missense_Mutation_p.P259L|SS18_uc010xbg.2_Missense_Mutation_p.P258L|SS18_uc010xbh.2_Missense_Mutation_p.P258L|SS18_uc010xbi.2_Missense_Mutation_p.P318L|SS18_uc010dlz.1_Missense_Mutation_p.P289L	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA.	341	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TCCCTGTTGTGGAGGTGGTCC	0.473000			T	"""SSX1,  SSX2"""	synovial sarcoma									104			13		0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50826512	50826513	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50826512_50826513GG>AA	uc002pru.1	-	1	1992_1993	c.1697_1698CC>TT	c.(1696-1698)ccc>cTT	p.P566L	KCNC3_uc002prt.1_Missense_Mutation_p.P202L	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	566					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CCGGTTGCGGGGGCCGGGGGAT	0.653000														12			9		0	0	1	0	0
DHRS2	10202	broad.mit.edu	37	14	24108096	24108096	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24108096G>C	uc001wkt.4	+	1	470	c.23G>C	c.(22-24)gGc>gCc	p.G8A	DHRS2_uc010aku.1_Missense_Mutation_p.G8A|DHRS2_uc001wku.4_Missense_Mutation_p.G8A|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	0					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GTTGCCCGGGGCTACCAGGGC	0.557000														86			38		0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67803171	67803171	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:67803171C>T	uc003xwz.4	+	9	1316	c.1145C>T	c.(1144-1146)aCt>aTt	p.T382I	MCMDC2_uc011lev.2_Missense_Mutation_p.T382I|MCMDC2_uc011lew.2_Missense_Mutation_p.T313I|MCMDC2_uc011lex.2_Missense_Mutation_p.T140I|MCMDC2_uc003xwy.4_Missense_Mutation_p.T382I	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA.	382					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						ATTTTTCCCACTCTATCCAGG	0.408000														108			34		0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41508052	41508052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:41508052G>A	uc001uxs.3	-	8	1742	c.1369C>T	c.(1369-1371)Cca>Tca	p.P457S	ELF1_uc010tfc.2_Missense_Mutation_p.P433S|ELF1_uc010acd.3_Missense_Mutation_p.P350S	NM_172373	NP_758961	P32519	ELF1_HUMAN	Homo sapiens E74-like factor 1 (ets domain transcription factor) (ELF1), transcript variant 1, mRNA.	457					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CCTGCTGATGGATCTGTGCTG	0.443000														271			26		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184298852	184298852	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:184298852G>A	uc003foz.3	+	13	3068	c.2631G>A	c.(2629-2631)cgG>cgA	p.R877R		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	877	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCTGGGTGCGGGACCGGAACC	0.602000														86			28		0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98189039	98189039	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:98189039C>T	uc003dsm.3	+	0	619	c.619C>T	c.(619-621)Caa>Taa	p.Q207*		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGGTTCAGTTCAAGTCTTTAC	0.343000														148			53		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79461839	79461839	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:79461839C>T	uc003hlb.2	+	73	12040	c.11600C>T	c.(11599-11601)tCc>tTc	p.S3867F		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3862					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTTGATGATTCCCTCATCTAT	0.552000														25			8		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13663341	13663341	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:13663341G>A	uc011avc.2	+	8	2604	c.2222G>A	c.(2221-2223)gGa>gAa	p.G741E	FBLN2_uc011auz.2_Intron|FBLN2_uc011avb.2_Intron|FBLN2_uc011ava.2_Missense_Mutation_p.G741E	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	741	EGF-like 3; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AACACCCTGGGATCCTTCTAC	0.587000														42			17		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40585181	40585181	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40585181C>T	uc001zld.3	-	20	2573	c.2272G>A	c.(2272-2274)Gaa>Aaa	p.E758K	PLCB2_uc001zlc.3_5'Flank|PLCB2_uc010bbo.3_Missense_Mutation_p.E754K|PLCB2_uc010ucm.2_Missense_Mutation_p.E758K	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	758	C2.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TTGTTGCCTTCCTCCATCACA	0.562000														80			24		0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139416468	139416468	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:139416468G>A	uc003vvf.4	-	1	637	c.366C>T	c.(364-366)ctC>ctT	p.L122L	HIPK2_uc003vvd.4_Silent_p.L122L	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	122	Transcriptional corepression (By similarity).				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AGGTATCAAGGAGGCTCACAG	0.552000														26			12		0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327124	52327124	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52327124C>T	uc002pxt.1	+	1	307	c.123C>T	c.(121-123)gtC>gtT	p.V41V	FPR3_uc021uyq.1_Silent_p.V41V	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	41					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TCTTCGGGGTCCTGGGCAATG	0.547000														77			27		0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26273425	26273425	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:26273425G>A	uc001uqk.3	+	24	2468	c.2326G>A	c.(2326-2328)Gaa>Aaa	p.E776K	ATP8A2_uc010tdi.2_Missense_Mutation_p.E736K|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.E326K	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	736					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCTCTCCTTCGAAGTCCGGAG	0.542000														46			8		0	0	1	0	0
CHEK1	1111	broad.mit.edu	37	11	125513759	125513759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:125513759C>T	uc009zbo.3	+	8	1784	c.887C>T	c.(886-888)tCc>tTc	p.S296F	CHEK1_uc010sbi.2_Missense_Mutation_p.S296F|CHEK1_uc010sbh.2_Missense_Mutation_p.S312F|CHEK1_uc001qcf.4_Missense_Mutation_p.S296F|CHEK1_uc009zbp.3_Missense_Mutation_p.S296F|CHEK1_uc001qcg.4_Missense_Mutation_p.S296F	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.	296					DNA repair|DNA replication|cellular response to mechanical stimulus|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		CACATTCAATCCAATTTGGAC	0.383000								Other conserved DNA damage response genes						54			17		0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978476	10978476	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10978476G>A	uc001qyy.1	-	0	393	c.393C>T	c.(391-393)ttC>ttT	p.F131F		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	131					sensory perception of taste	integral to membrane	taste receptor activity	p.P130L(1)		breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATACTATCATGAAGGGAAGAA	0.348000														45			22		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113953812	113953812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113953812G>A	uc002tjc.3	+	11	2497	c.2314G>A	c.(2314-2316)Gat>Aat	p.D772N	PSD4_uc002tjd.3_Missense_Mutation_p.D393N|PSD4_uc002tje.3_Missense_Mutation_p.D743N|PSD4_uc002tjf.3_Missense_Mutation_p.D393N|PSD4_uc002tjg.3_5'Flank|PSD4_uc010yxs.2_5'Flank|PSD4_uc002tjh.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	772					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGGCTCAGGATCCCACAGT	0.567000														45			16		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316036	30316036	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:30316036G>A	uc009xle.2	-	2	3178	c.3041C>T	c.(3040-3042)cCa>cTa	p.P1014L	KIAA1462_uc001iux.3_Missense_Mutation_p.P1014L|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.P876L	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1014										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CGCTTCACTTGGTTTCACAGA	0.567000														119			58		0	0	1	0	0
OBP2A	29991	broad.mit.edu	37	9	138438674	138438674	+	Silent	SNP	G	A	A	rs142617413	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:138438674G>A	uc004cgc.3	+	1	165	c.123G>A	c.(121-123)ccG>ccA	p.P41P	OBP2A_uc004cgb.3_Silent_p.P41P|OBP2A_uc010nau.3_Non-coding_Transcript|OBP2A_uc010nav.3_Intron			Q9NY56	OBP2A_HUMAN	Homo sapiens odorant binding protein 2A (OBP2A), mRNA.	41					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		AGGACTTTCCGGAGGACAGGA	0.602000														19			9		0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42145908	42145908	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:42145908C>T	uc003gwn.3	-	2	1171	c.591G>A	c.(589-591)atG>atA	p.M197I	BEND4_uc003gwm.3_Missense_Mutation_p.M197I|BEND4_uc011byy.1_Missense_Mutation_p.M197I	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	197										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CGCAAGAAATCATGGACTGAG	0.478000														17			6		0	0	1	0	0
SPRY1	10252	broad.mit.edu	37	4	124322981	124322981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:124322981G>A	uc003ifa.3	+	1	422	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	SPRY1_uc003ifb.3_Missense_Mutation_p.E79K|SPRY1_uc021xro.1_Missense_Mutation_p.E79K	NM_199327	NP_955359	O43609	SPY1_HUMAN	Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA.	79					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AAGGACTCATGAAATCATACC	0.478000														96			37		0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18668094	18668094	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:18668094C>T	uc002gul.3	+	6	1792	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	FBXW10_uc002guj.3_Silent_p.F491F|FBXW10_uc002guk.3_Silent_p.F491F|FBXW10_uc010cqh.2_Silent_p.F491F	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	491										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CACGAATCTTCGGTGGTCACC	0.493000														32			27		0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69171531	69171531	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:69171531C>T	uc003dns.2	-	0	216	c.7G>A	c.(7-9)Gag>Aag	p.E3K	LMOD3_uc003dnt.2_Missense_Mutation_p.E3K	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.	3						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CTGCTGTGCTCTGACATTATT	0.333000														21			11		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76440770	76440770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76440770G>A	uc010dhp.2	-	70	11569	c.11444C>T	c.(11443-11445)cCc>cTc	p.P3815L	DNAH17_uc002jvq.3_Missense_Mutation_p.P100L|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.P3810L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCACTCCTTGGGGAAGATCTC	0.567000														31			9		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181726163	181726163	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181726163C>T	uc009wxt.3	+	29	4425	c.4230C>T	c.(4228-4230)ttC>ttT	p.F1410F	CACNA1E_uc001gow.3_Silent_p.F1410F|CACNA1E_uc009wxs.3_Silent_p.F1391F|CACNA1E_uc001gox.1_Silent_p.F636F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1410					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						TTGTGGTCTTCCCCTTCTTCT	0.488000														94			46		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581370	7581370	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7581370G>A	uc003mxp.1	+	22	5226	c.4947G>A	c.(4945-4947)agG>agA	p.R1649R	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1649	Central fibrous rod domain.				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)		AAAAGCAGAGGACCCAGGAAG	0.572000														73			35		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884217	228884217	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228884217G>A	uc002vpq.2	-	6	1400	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	SPHKAP_uc002vpp.2_Silent_p.V451V|SPHKAP_uc010zlx.1_Silent_p.V451V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	451						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGAACAACGACGATTTTGG	0.507000														78			27		0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169049298	169049298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169049298G>A	uc003irm.3	+	1	246	c.82G>A	c.(82-84)Gga>Aga	p.G28R		NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	28							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AATGCTAGGAGGAGCACTCCA	0.368000														54			5		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390319	197390319	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197390319G>A	uc001gtz.3	+	5	1570	c.1361G>A	c.(1360-1362)gGa>gAa	p.G454E	CRB1_uc010poz.2_Missense_Mutation_p.G385E|CRB1_uc009wza.3_Missense_Mutation_p.G342E|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.G454E|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.G103E	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	454	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTAAATAATGGAACATGCATC	0.468000														102			37		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10555862	10555862	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10555862C>T	uc002gmq.2	-	3	311	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	75	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TACACATCCTCTGGTTTGACC	0.463000														51			34		0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11658696	11658696	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11658696G>A	uc002msc.1	+	4	639	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	CNN1_uc010xmb.1_Missense_Mutation_p.E109K|CNN1_uc010xmc.1_Missense_Mutation_p.E109K	NM_001299	NP_001290	P51911	CNN1_HUMAN	Homo sapiens calponin 1, basic, smooth muscle (CNN1), mRNA.	159					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GAAGCTAAGAGAAGGGCGGAA	0.582000														27			20		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45459065	45459065	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:45459065C>T	uc001rol.3	-	0		c.130G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TCGTTTCCTTCCTTGAGAATC	0.468000														27			14		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62286062	62286063	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62286062_62286063GG>AA	uc001ntl.3	-	4	16126_16127	c.15826_15827CC>TT	c.(15826-15828)ccc>TTc	p.P5276F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5276					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGAAACATCGGGCCCTTCGAGC	0.535000														69			20		0	0	1	0	0
HOXA9	3205	broad.mit.edu	37	7	27204563	27204563	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:27204563C>T	uc003syt.3	-	0	587	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	HOXA9_uc022aar.1_Non-coding_Transcript	NM_152739	NP_689952	P31269	HXA9_HUMAN	Homo sapiens homeobox A9 (HOXA9), mRNA.	172							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						AAGGCGCCTTCGCTGGGTTGT	0.552000			T	"""NUP98, MSI2"""	AML*									57			18		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117996324	117996324	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117996324G>A	uc001two.2	-	7	1348	c.1293C>T	c.(1291-1293)atC>atT	p.I431I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	460					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCGGTGGATGATCAGAAGAT	0.507000														61			9		0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96555182	96555182	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:96555182G>A	uc001vmt.3	-	20	2598	c.2428C>T	c.(2428-2430)Ctt>Ttt	p.L810F		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	810					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AGTTGCCCAAGAAAGCTTCTC	0.318000														124			13		0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79748963	79748963	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:79748963C>T	uc002bew.1	+	1	549	c.474C>T	c.(472-474)tgC>tgT	p.C158C	KIAA1024_uc010unk.1_Silent_p.C158C	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	158						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CGTCCAAGTGCCGGAAGATGG	0.567000														71			21		0	0	1	0	0
SLC30A1	7779	broad.mit.edu	37	1	211749497	211749497	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:211749497G>A	uc001hio.1	-	1	902	c.757C>T	c.(757-759)Ctt>Ttt	p.L253F		NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 1 (SLC30A1), mRNA.	253					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	T-tubule|integral to membrane	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		GCATCTCCAAGGACATGCAGA	0.413000														77			25		0	0	1	0	0
MAP2K5	5607	broad.mit.edu	37	15	67995676	67995676	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:67995676C>T	uc002aqu.3	+	16	1626	c.973_splice	c.e16-1	p.P325_splice	MAP2K5_uc002aqv.3_Splice_Site_p.P325_splice|MAP2K5_uc010ujw.2_Splice_Site_p.P289_splice|MAP2K5_uc002aqx.3_Splice_Site_p.P135_splice	NM_145160	NP_660143	Q13163	MP2K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 5 (MAP2K5), transcript variant 1, mRNA.	325	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TTCTTGCAGCCTGAAAGGATT	0.463000														85			35		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187953	140187953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140187953C>T	uc003lhi.2	+	0	1282	c.1181C>T	c.(1180-1182)cCc>cTc	p.P394L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.P394L|PCDHAC2_uc011daa.2_Missense_Mutation_p.P394L	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	409	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)			TCCCACGTCCCCTTCAAGCTG	0.592000														173			19		0	0	1	0	0
GRINA	2907	broad.mit.edu	37	8	145065532	145065532	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145065532C>T	uc003zan.1	+	1	307	c.141C>T	c.(139-141)ttC>ttT	p.F47F	GRINA_uc003zao.1_Silent_p.F47F|GRINA_uc003zap.1_Silent_p.F47F	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	47	Pro-rich.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCCCCCTTTCCAGCCCTCCC	0.706000														19			3		0	0	1	0	0
STARD4	134429	broad.mit.edu	37	5	110835662	110835662	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:110835662C>T	uc003kph.1	-	5	624	c.540G>A	c.(538-540)atG>atA	p.M180I	STARD4_uc010jbw.1_Missense_Mutation_p.M82I|STARD4_uc010jbx.1_Missense_Mutation_p.M82I|STARD4_uc003kpi.1_Non-coding_Transcript	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.	180	START.				lipid transport		lipid binding	p.G179G(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		ACTGAGGAATCATCCCACGCA	0.413000														97			50		0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241494457	241494457	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241494457G>A	uc010fzd.1	-	2	287	c.162C>T	c.(160-162)gcC>gcT	p.A54A	ANKMY1_uc002vzb.1_Silent_p.A54A|ANKMY1_uc002vzc.1_Silent_p.A54A|ANKMY1_uc002vyz.1_5'UTR|ANKMY1_uc002vza.1_Silent_p.A54A|ANKMY1_uc002vzd.1_Silent_p.A54A|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_5'UTR|ANKMY1_uc002vzf.3_5'UTR	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	0							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CCTTCTCAGGGGCTGCTGAAA	0.602000														77			56		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237405806	237405806	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:237405806G>A	uc002vwb.2	-	2	391	c.357_splice	c.e2+1	p.P119_splice	IQCA1_uc002vvz.1_Splice_Site_p.P112_splice|IQCA1_uc002vwa.1_Splice_Site|IQCA1_uc010zni.1_Splice_Site_p.P112_splice	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	112							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GAGTGCTTACGGGGGCCAGCT	0.448000														7			10		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516156	140516156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140516156G>A	uc003liq.3	+	0	1357	c.1140G>A	c.(1138-1140)atG>atA	p.M380I		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	380	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGTAGGATGATTTGCTCCA	0.488000														78			32		0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834443	61834443	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61834443G>A	uc002yeh.3	-	3	1143	c.849C>T	c.(847-849)gcC>gcT	p.A283A	YTHDF1_uc011aaq.2_Silent_p.A233A	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	283	Gln/Pro-rich.			AP -> PH (in Ref. 5; CAD39029).						NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GGGGGACTGGGGCCTTCGGCA	0.652000														100			36		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129338	83129338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:83129338C>T	uc004eei.1	+	3	1643	c.1622C>T	c.(1621-1623)tCa>tTa	p.S541L	CYLC1_uc004eeh.1_Missense_Mutation_p.S540L	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	541	8 X approximate tandem repeats.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATCAAAGGTTCAGATACTGAA	0.373000														13			20		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554523	20554523	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20554523C>T	uc002dhj.4	-	11	1553	c.1343G>A	c.(1342-1344)gGa>gAa	p.G448E	ACSM2B_uc002dhk.4_Missense_Mutation_p.G448E|ACSM2B_uc010bwf.1_Missense_Mutation_p.G448E	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	448					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.R447R(1)|p.R447W(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATCTTTGATTCCCCGGTCTCC	0.488000														309			15		0	0	1	0	0
SCGN	10590	broad.mit.edu	37	6	25701497	25701497	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:25701497G>A	uc003nfb.3	+	10	968	c.765G>A	c.(763-765)gtG>gtA	p.V255V	SCGN_uc010jpz.3_Silent_p.V146V	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	255	EF-hand 6.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACTGCGACGTGAACAAGGATG	0.488000														94			27		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247920864	247920864	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247920864G>A	uc010pza.2	-	0	845	c.845C>T	c.(844-846)gCt>gTt	p.A282V		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A282P(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAGCATCGGAGCCACCATTGA	0.473000														113			61		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167164253	167164253	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:167164253C>T	uc003fes.1	-	7	1169	c.1098G>A	c.(1096-1098)gtG>gtA	p.V366V	SERPINI2_uc003fer.1_Silent_p.V356V|SERPINI2_uc003fet.1_Silent_p.V356V	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	356					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GACTCATGATCACAGGGATGT	0.318000														106			24		0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55065577	55065578	+	RNA	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55065577_55065578CC>TT	uc021qjb.1	-	0		c.131_132GG>AA			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		CATGTTGTCTCCTTGCATTTAG	0.490000														30			13		0	0	1	0	0
NPEPPS	9520	broad.mit.edu	37	17	45664637	45664637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:45664637C>T	uc002ilr.4	+	8	1245	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	NPEPPS_uc010wkt.2_Missense_Mutation_p.S337L|NPEPPS_uc010wku.2_Missense_Mutation_p.S305L|NPEPPS_uc010wkv.2_5'UTR	NM_006310	NP_006301	P55786	PSA_HUMAN	Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA.	341					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TCCTGTTCTTCATCCCGCCAG	0.353000														13			3		0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74357718	74357718	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:74357718G>A	uc003hhb.3	+	7	1004	c.973G>A	c.(973-975)Gat>Aat	p.D325N		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	325	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAGACCAAAGGATTTATCTCT	0.378000														92			36		0	0	1	0	0
HEXIM2	124790	broad.mit.edu	37	17	43246863	43246863	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:43246863G>A	uc002iik.1	-	1		c.1357C>T			HEXIM2_uc002iih.1_Missense_Mutation_p.R183Q|HEXIM2_uc010daf.1_Missense_Mutation_p.R205Q|HEXIM2_uc002iii.1_Missense_Mutation_p.R183Q|HEXIM2_uc002iij.1_Missense_Mutation_p.R183Q			Q96MH2	HEXI2_HUMAN	Homo sapiens cDNA FLJ39466 fis, clone PROST2012353.						negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						GGGCGGGGCCGAGCGCACGGT	0.652000														9			9		0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155234488	155234488	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155234488G>A	uc001fjy.3	-	8	1301	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	SCAMP3_uc001fjs.3_5'Flank|SCAMP3_uc001fjt.3_5'Flank|CLK2_uc001fjw.3_Silent_p.H336H|CLK2_uc001fjx.3_Silent_p.H109H|CLK2_uc009wqm.3_Silent_p.H337H	NM_003993	NP_003984	P49760	CLK2_HUMAN	Homo sapiens CDC-like kinase 2 (CLK2), mRNA.	337	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E336K(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTGCTATGGTGCTCATGGT	0.547000								Other conserved DNA damage response genes						73			28		0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210577852	210577852	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:210577852C>T	uc010psr.2	+	4	621	c.516C>T	c.(514-516)ttC>ttT	p.F172F	HHAT_uc009xcx.3_Silent_p.F171F|HHAT_uc010psq.2_Intron|HHAT_uc009xcy.3_Silent_p.F106F|HHAT_uc010pss.2_Silent_p.F126F|HHAT_uc010pst.2_Silent_p.F108F|HHAT_uc001hhz.4_Silent_p.F171F|HHAT_uc021pip.1_Silent_p.F171F|HHAT_uc010psu.2_Silent_p.F106F	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	171					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGCTGCAGTTCACGCTGACCG	0.542000														46			28		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111096	81111096	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81111096G>A	uc001szg.2	+	0	389	c.254G>A	c.(253-255)cGg>cAg	p.R85Q		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	85					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.R85W(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ATGGATCGGCGGAAGGCAGCC	0.627000														32			15		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51382068	51382068	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:51382068G>A	uc001wyu.3	-	10	1516	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	PYGL_uc010tqq.2_Silent_p.I429I	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	463					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	p.I463I(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TAGTCTTCACGATGTCTGAGT	0.473000														200			17		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103191703	103191703	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:103191703G>A	uc022ajr.1	-	40	6273	c.6113C>T	c.(6112-6114)cCa>cTa	p.P2038L	RELN_uc022ajq.1_Missense_Mutation_p.P2038L|RELN_uc010liz.3_Missense_Mutation_p.P2038L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2038					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)		CAGTCTCACTGGATCCGCGGA	0.502000														48			18		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027304	37027304	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:37027304C>T	uc004ddl.2	+	0	873	c.821C>T	c.(820-822)cCt>cTt	p.P274L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	274										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TACCTGGAGCCTCCTGGGACT	0.607000														16			47		0	0	1	0	0
AGK	55750	broad.mit.edu	37	7	141336797	141336797	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141336797C>T	uc003vwi.2	+	10	877	c.706C>T	c.(706-708)Cac>Tac	p.H236Y	AGK_uc011krg.1_Non-coding_Transcript	NM_018238	NP_060708	Q53H12	AGK_HUMAN	Homo sapiens acylglycerol kinase (AGK), nuclear gene encoding mitochondrial protein, mRNA.	236					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	ATP binding|NAD+ kinase activity|acylglycerol kinase activity|diacylglycerol kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CAAAGCAGCCCACTTTTTCAG	0.313000														50			10		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10209890	10209890	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10209890C>T	uc002gmk.1	-	36	5442	c.5352G>A	c.(5350-5352)gaG>gaA	p.E1784E		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1784					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTTCATCCGCTCCAGGTGGG	0.577000														64			50		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7696348	7696348	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7696348G>A	uc002giu.1	+	46	7408	c.7394G>A	c.(7393-7395)cGa>cAa	p.R2465Q		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2465	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTTGAGAAGCGAACCAAGGGT	0.512000														56			36		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126676290	126676290	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:126676290C>A	uc003kuh.4	+	4	649	c.287C>A	c.(286-288)cCt>cAt	p.P96H	MEGF10_uc010jdc.1_Missense_Mutation_p.P96H|MEGF10_uc010jdd.1_Missense_Mutation_p.P96H|MEGF10_uc003kui.4_Missense_Mutation_p.P96H	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	96	EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CAGTGTTGTCCTGGATTTTAT	0.428000														73			36		1.57019e-19	1.57859e-19	1	1	0
CEACAM20	125931	broad.mit.edu	37	19	45015121	45015121	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45015121G>A	uc010ejn.1	-	11	1720	c.1704C>T	c.(1702-1704)tcC>tcT	p.S568S	CEACAM20_uc010ejo.1_Silent_p.S556S|CEACAM20_uc010ejp.1_Silent_p.S475S|CEACAM20_uc010ejq.1_Silent_p.S463S	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	568						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TTGGCACAGTGGAGACCAATC	0.493000														41			15		0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27571983	27571983	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:27571983C>T	uc001zbg.2	+	3	552	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	GABRG3_uc001zbf.3_Nonsense_Mutation_p.Q100*	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	100					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.A99S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ATTTTTTGCTCAGACCTGGAC	0.388000														92			46		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124757009	124757009	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124757009G>A	uc001qbg.3	-	14	2439	c.2299C>T	c.(2299-2301)Ctc>Ttc	p.L767F	ROBO4_uc010sas.2_Missense_Mutation_p.L622F|ROBO4_uc001qbh.2_Missense_Mutation_p.L657F|ROBO4_uc001qbi.3_Missense_Mutation_p.L325F	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	767	Pro/Ser-rich.				angiogenesis|cell differentiation	integral to membrane	receptor activity	p.S766S(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGGCCAGAGAGGGAAGAGGCC	0.672000														47			11		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10222127	10222127	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10222127C>T	uc002gmk.1	-	26	3808	c.3718G>A	c.(3718-3720)Gag>Aag	p.E1240K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1240					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.E1240K(3)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GAGAGAGCCTCGATGTTGCTG	0.567000														46			44		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19194885	19194885	+	Missense_Mutation	SNP	G	A	A	rs149672382		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19194885G>A	uc002dfw.3	+	4	698	c.367G>A	c.(367-369)Gat>Aat	p.D123N	SYT17_uc002dfx.3_Missense_Mutation_p.D62N|SYT17_uc002dfy.3_Missense_Mutation_p.D119N	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	123						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TCCACTCATCGATATTAAACC	0.527000														130			15		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475911	140475911	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140475911G>A	uc003lil.3	+	0	1675	c.1537G>A	c.(1537-1539)Ggc>Agc	p.G513S	PCDHB2_uc003lim.1_Missense_Mutation_p.G174S	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	513	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCGGACAACGGCCACCTGTT	0.701000														171			58		0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131515789	131515789	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131515789A>G	uc004bwa.1	-	3	833	c.400T>C	c.(400-402)Ttg>Ctg	p.L134L		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	Homo sapiens zer-1 homolog (C. elegans) (ZER1), mRNA.	134					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						AAGAGGCTCAAGGACACCAGG	0.567000														46			8		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333310	70333310	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70333310G>A	uc001oqc.3	-	20	3002	c.2890C>T	c.(2890-2892)Cct>Tct	p.P964S	SHANK2_uc010rqn.2_Missense_Mutation_p.P440S|SHANK2_uc001opz.3_Missense_Mutation_p.P435S|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	651					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTCGGGATAGGGATGGAGCAC	0.662000														125			51		0	0	1	0	0
HLF	3131	broad.mit.edu	37	17	53342917	53342917	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:53342917C>T	uc002iug.1	+	0	597	c.72C>T	c.(70-72)tcC>tcT	p.S24S	HLF_uc010dce.1_5'Flank|HLF_uc002iuh.2_5'Flank|HLF_uc010wni.1_5'Flank	NM_002126	NP_002117	Q16534	HLF_HUMAN	Homo sapiens hepatic leukemia factor (HLF), mRNA.	24					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						TGCTCAGGTCCCTGCTGGAGA	0.642000			T	TCF3	ALL									30			4		0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5961342	5961342	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:5961342G>A	uc003git.2	-	6		c.1889C>T						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TGGACACCAAGGACAGAGGGA	0.527000														33			8		0	0	1	0	0
CERS1	10715	broad.mit.edu	37	19	19004363	19004363	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19004363G>A	uc002nki.1	-	1	343	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F	CERS1_uc002nkj.3_Missense_Mutation_p.L91F|CERS1_uc010ebx.3_5'UTR	NM_021267	NP_067090	P27544	CERS1_HUMAN	Homo sapiens ceramide synthase 1 (CERS1), transcript variant 1, mRNA.	91					ceramide biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity			endometrium(3)|lung(2)	5						CTGGGCTGGAGGCAGCACCGC	0.632000														10			5		0	0	1	0	0
TMEM120B	144404	broad.mit.edu	37	12	122209422	122209422	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:122209422C>T	uc001ubc.4	+	7	790	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	TMEM120B_uc009zxh.3_Missense_Mutation_p.R216C	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	Homo sapiens transmembrane protein 120B (TMEM120B), mRNA.	216						integral to membrane		p.R216C(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TCAGAAGTTTCGCAACCAGTT	0.488000														88			29		0	0	1	0	0
C2CD4A	145741	broad.mit.edu	37	15	62359880	62359880	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:62359880C>T	uc002ahf.4	+	1	209	c.68C>T	c.(67-69)cCg>cTg	p.P23L	C2CD4A_uc021snl.1_Missense_Mutation_p.P23L	NM_207322	NP_997205	Q8NCU7	C2C4A_HUMAN	Homo sapiens C2 calcium-dependent domain containing 4A (C2CD4A), mRNA.	23						nucleus											TGGCTTCTCCCGGGTCGGGCC	0.667000														25			22		0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57828873	57828873	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57828873C>T	uc001snv.1	+	0	331	c.204C>T	c.(202-204)tcC>tcT	p.S68S		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	68					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GCCCTGTGTCCAGAGCTGCTT	0.572000														69			11		0	0	1	0	0
ABCD1	215	broad.mit.edu	37	X	152991603	152991603	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:152991603C>T	uc004fif.2	+	0	1281	c.882C>T	c.(880-882)gcC>gcT	p.A294A	BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.	294	ABC transmembrane type-1.		A -> T (in X-ALD; AMN-type).		fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGATCGCCTTCTATGGGG	0.706000														1			2		0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33495271	33495271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:33495271C>T	uc002hja.3	+	9	1440	c.1343C>T	c.(1342-1344)gCc>gTc	p.A448V	UNC45B_uc002hjb.3_Missense_Mutation_p.A448V|UNC45B_uc002hjc.3_Missense_Mutation_p.A448V|UNC45B_uc010cto.3_Missense_Mutation_p.A448V	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	448					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CTCATCCATGCCTCCACGAAG	0.557000														18			22		0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201351789	201351789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201351789C>T	uc001gwm.3	-	7	1700	c.1465G>A	c.(1465-1467)Gac>Aac	p.D489N		NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	489						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						ACCTGGGGGTCCTGATCTCCA	0.542000														13			9		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537901	55537901	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55537901G>A	uc003xsd.1	+	3	1607	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	487					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.S486I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCATATAGTGAAGAAAGGGA	0.363000														67			28		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66067164	66067164	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:66067164C>T	uc001dci.3	+	8	1473	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S	LEPR_uc001dcg.3_Missense_Mutation_p.P362S|LEPR_uc001dch.3_Missense_Mutation_p.P362S|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.P362S|LEPR_uc001dcj.3_Missense_Mutation_p.P362S|LEPR_uc001dck.3_Missense_Mutation_p.P362S	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	362	Ig-like.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAAGATTGTTCCCTCAAAAGA	0.348000														79			10		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255362	51255362	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:51255362G>A	uc021vhh.1	-	0	971	c.50C>T	c.(49-51)tCg>tTg	p.S17L	NRXN1_uc021vhg.1_Missense_Mutation_p.S17L|NRXN1_uc021vhi.1_Missense_Mutation_p.S17L|NRXN1_uc021vhj.1_Missense_Mutation_p.S17L|NRXN1_uc021vhk.1_Missense_Mutation_p.S17L	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	17					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAGCAGCAGCGAGAGGCACAG	0.716000														8			3		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3511995	3511995	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3511995C>T	uc001akl.3	-	2	510	c.283G>A	c.(283-285)Ggc>Agc	p.G95S		NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	95	EMI.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TGCCTGTAGCCCATGTAGTAG	0.612000														77			8		0	0	1	0	0
AZGP1P1	646282	broad.mit.edu	37	7	99580912	99580912	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99580912G>A	uc003usi.2	+	1	233	c.222G>A	c.(220-222)tgG>tgA	p.W74*	AZGP1P1_uc022aie.1_Nonsense_Mutation_p.W74*					Homo sapiens alpha-2-glycoprotein 1, zinc-binding pseudogene 1 (AZGP1P1), non-coding RNA.																		TGGGACCATGGAGACATGCGG	0.542000														24			15		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86591475	86591475	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:86591475C>T	uc001dlj.3	-	2	619	c.544G>A	c.(544-546)Gga>Aga	p.G182R	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.G182R	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	182	Laminin G-like.|TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TATTTCTTTCCACACTCAACA	0.343000														36			6		0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55184358	55184358	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:55184358C>T	uc010wnl.2	+	2	1815	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	AKAP1_uc002iux.3_Silent_p.F511F|AKAP1_uc021uak.1_Silent_p.F511F|AKAP1_uc010dcm.3_Silent_p.F511F|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	511					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CAGATTCTTTCAGCACTTCAG	0.567000														185			68		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736281	12736281	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:12736281G>A	uc004cuz.2	+	15	3842	c.3336G>A	c.(3334-3336)ggG>ggA	p.G1112G	FRMPD4_uc011mij.2_Silent_p.G1104G	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1112					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						CAGCAACAGGGAAAACCTTTC	0.507000														40			72		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603011	138603011	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:138603011G>A	uc011kql.2	-	1	1410	c.1361C>T	c.(1360-1362)aCc>aTc	p.T454I	KIAA1549_uc011kqj.2_Missense_Mutation_p.T454I	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	454						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTCCAGCACGGTCATGCACAG	0.522000			O	BRAF	pilocytic astrocytoma									58			26		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140769170	140769170	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140769170C>T	uc003lkc.2	+	0	1719	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	576	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F573F(1)		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)			CTGCGCTCTTCGATATGGTGC	0.647000														57			5		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29012450	29012450	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29012450C>T	uc001usb.3	-	3	706	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	FLT1_uc010aar.1_Missense_Mutation_p.E141K|FLT1_uc001usc.3_Missense_Mutation_p.E141K|FLT1_uc010tdp.1_Missense_Mutation_p.E141K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	141					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TCGGGGATTTCACTGTACATC	0.373000														42			15		0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95552654	95552654	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95552654G>A	uc001kjc.4	+	5	994	c.658G>A	c.(658-660)Gat>Aat	p.D220N	LGI1_uc021pwk.1_Missense_Mutation_p.D220N|LGI1_uc010qnv.2_Missense_Mutation_p.D172N|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	220	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GAAGGATTTTGATTGCATCAT	0.388000														99			42		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65789296	65789296	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65789296G>A	uc001ogt.3	-	2	1622	c.1484C>T	c.(1483-1485)gCc>gTc	p.A495V		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	495					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTTGAGCAGGGCTTCCACCAC	0.572000														103			14		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	122075625	122075625	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:122075625C>T	uc004bkc.2	-	1	465	c.9G>A	c.(7-9)tgG>tgA	p.W3*	DBC1_uc004bkd.2_Nonsense_Mutation_p.W3*	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	3					cell cycle arrest|cell death	cytoplasm	protein binding			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						CAACAAACCTCCAGTTCATGC	0.463000														41			10		0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169940013	169940013	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169940013C>T	uc010zdc.2	+	2	780	c.668C>T	c.(667-669)tCc>tTc	p.S223F	DHRS9_uc002uep.3_Missense_Mutation_p.S163F|DHRS9_uc002ueq.3_Missense_Mutation_p.S163F|DHRS9_uc010zdd.2_Missense_Mutation_p.S163F|DHRS9_uc010zde.2_Missense_Mutation_p.S163F	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	163					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ATTAATGTCTCCAGTGTTGGA	0.418000														90			31		0	0	1	0	0
WIPF1	7456	broad.mit.edu	37	2	175436545	175436545	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:175436545C>T	uc002uiz.3	-	4	1088	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.E330K|WIPF1_uc010fqt.1_Missense_Mutation_p.E330K|WIPF1_uc002ujc.1_Missense_Mutation_p.E330K|WIPF1_uc002ujb.2_Missense_Mutation_p.E330K|WIPF1_uc010zep.1_Missense_Mutation_p.E330K	NM_003387	NP_003378	O43516	WIPF1_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.	330	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.D329D(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CTTGGGGTTTCGTCATTGCCG	0.677000														58			5		0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80374441	80374441	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:80374441G>A	uc011kgw.2	-	17	2158	c.2079C>T	c.(2077-2079)tcC>tcT	p.S693S	SEMA3C_uc003uhj.3_Silent_p.S675S	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	675					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGGTCCATGGGGACCATTTGT	0.463000														75			36		0	0	1	0	0
TBCB	1155	broad.mit.edu	37	19	36616633	36616633	+	Silent	SNP	C	T	T	rs146159771		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36616633C>T	uc002odg.1	+	5	1259	c.684C>T	c.(682-684)gtC>gtT	p.V228V		NM_001281	NP_001272	Q99426	TBCB_HUMAN	Homo sapiens tubulin folding cofactor B (TBCB), mRNA.	228					'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCCAGCAGTCGTGACGGTGG	0.572000														224			97		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20620576	20620576	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:20620576T>C	uc003gpr.1	+	36	4738	c.4534T>C	c.(4534-4536)Ttt>Ctt	p.F1512L	SLIT2_uc003gps.1_Missense_Mutation_p.F1504L	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1512	CTCK.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGGCTCCTCCTTTGTGGACGA	0.547000														32			22		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62125259	62125259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62125259G>A	uc002jdz.2	-	18	2601	c.2488C>T	c.(2488-2490)Ccg>Tcg	p.P830S		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	830	Protein kinase.		P -> L (in an ovarian serous carcinoma sample; somatic mutation).		activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.P830L(1)		central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CAGAAGAACGGGTGTTTGAGC	0.438000														50			17		0	0	1	0	0
ALDH1A3	220	broad.mit.edu	37	15	101434167	101434167	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:101434167C>T	uc002bwn.4	+	5	650	c.546C>T	c.(544-546)ttC>ttT	p.F182F	ALDH1A3_uc010bpb.3_Intron|BC073817_uc002bwo.1_Non-coding_Transcript	NM_000693	NP_000684	P47895	AL1A3_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A3 (ALDH1A3), mRNA.	182					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	AGTGGAACTTCCCCCTGCTGA	0.597000														188			32		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15815444	15815444	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:15815444C>T	uc002ddx.3	-	32	4541	c.4434G>A	c.(4432-4434)agG>agA	p.R1478R	MYH11_uc002ddv.3_Silent_p.R1478R|MYH11_uc002ddw.3_Silent_p.R1471R|MYH11_uc002ddy.3_Silent_p.R1471R|MYH11_uc010bvg.3_Silent_p.R1303R|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Silent_p.R177R|NDE1_uc002ddz.1_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1471					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CAGCTCTGTCCCTCTCATCCG	0.557000			T	CBFB	AML									70			12		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37262241	37262241	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:37262241C>T	uc022abv.1	-	9	1469	c.759G>A	c.(757-759)aaG>aaA	p.K253K	ELMO1_uc011kbc.2_Silent_p.K157K|ELMO1_uc003tfk.2_Silent_p.K253K|ELMO1_uc010kxg.2_Silent_p.K253K	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	253					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CATCAGGAGCCTTCAGGAAAA	0.418000														82			30		0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89521887	89521887	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:89521887C>T	uc001dmx.2	-	7	1400	c.1180G>A	c.(1180-1182)Gac>Aac	p.D394N		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	394					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TTACAAAAGTCATCCCGCTTT	0.393000														140			45		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41515243	41515243	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41515243C>T	uc002opr.1	+	4	772	c.765C>T	c.(763-765)acC>acT	p.T255T	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	255					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ACCGTGAAACCCTGGACCCCA	0.542000														93			42		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188055	140188055	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140188055G>A	uc003lhi.2	+	0	1384	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.R428Q|PCDHAC2_uc011daa.2_Missense_Mutation_p.R428Q	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	442	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)			GTGACCGCGCGAGACGGGGGC	0.617000														154			45		0	0	1	0	0
HOXB9	3219	broad.mit.edu	37	17	46700315	46700315	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:46700315G>A	uc002inx.3	-	1	904	c.700C>T	c.(700-702)Cag>Tag	p.Q234*		NM_024017	NP_076922	P17482	HXB9_HUMAN	Homo sapiens homeobox B9 (HOXB9), mRNA.	234					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						CGCCGGTTCTGAAACCAGATT	0.463000														93			8		0	0	1	0	0
NSDHL	50814	broad.mit.edu	37	X	152034497	152034497	+	Silent	SNP	C	T	T	rs147293409	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:152034497C>T	uc004fgt.1	+	6	939	c.678C>T	c.(676-678)ttC>ttT	p.F226F	NSDHL_uc004fgs.1_Silent_p.F226F	NM_001129765	NP_057006	Q15738	NSDHL_HUMAN	Homo sapiens NAD(P) dependent steroid dehydrogenase-like (NSDHL), transcript variant 2, mRNA.	226					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|binding|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	p.F226F(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	AGATGAAGTTCGTGATTGGGT	0.572000														38			47		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21355829	21355829	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:21355829C>T	uc002kuq.3	+	9	1433	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	LAMA3_uc010dlv.2_Silent_p.F449F|LAMA3_uc002kur.3_Silent_p.F449F	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	449	Domain V.|Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCAAATTTCCACGGAGACA	0.493000														79			27		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400656	89400656	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89400656C>T	uc010upo.1	+	11	5214	c.4840C>T	c.(4840-4842)Cta>Tta	p.L1614L	ACAN_uc010upp.1_Silent_p.L1614L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1614					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)			TTCTGGAACTCTAGGAAGTGG	0.547000														177			45		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167129313	167129313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:167129313G>A	uc010fpl.3	-	16	3255	c.2914C>T	c.(2914-2916)Cct>Tct	p.P972S	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	983						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTTGCATCAGGGTCTTCTTCA	0.373000														30			13		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156814893	156814893	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156814893G>A	uc010pht.2	-	11	2711	c.2412C>T	c.(2410-2412)ttC>ttT	p.F804F	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	804					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCGCAAAGACGAAGGTGGCGG	0.632000														1			3		0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327635	16327635	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:16327635G>A	uc003nbt.3	-	7	1878	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	ATXN1_uc010jpi.3_Missense_Mutation_p.R303W|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	303					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association	p.R303W(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GTGGCCTCCCGAGGGACAAAG	0.662000														43			25		0	0	1	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047788	46047788	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46047788C>T	uc002zfp.4	+	0	749	c.700C>T	c.(700-702)Ctc>Ttc	p.L234F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	234	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TGTGTCCCTCCTCTGCCGCCC	0.687000														209			32		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167675204	167675204	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:167675204C>T	uc010jjd.3	+	26	7233	c.7233C>T	c.(7231-7233)acC>acT	p.T2411T	ODZ2_uc003lzr.4_Silent_p.T2181T|ODZ2_uc003lzt.4_Silent_p.T1784T|ODZ2_uc010jje.3_Silent_p.T1675T	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)		ACCCCCTGACCAAGCTGGTCC	0.547000														83			21		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704332	68704332	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:68704332C>T	uc001ook.1	+	12	2486	c.2384C>T	c.(2383-2385)cCc>cTc	p.P795L	IGHMBP2_uc001ool.1_Missense_Mutation_p.P419L|IGHMBP2_uc001oom.1_Missense_Mutation_p.P373L	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	795	Gln/Pro-rich.				DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCCTGGGACCCCCAGCAGGG	0.706000														24			12		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46713053	46713053	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46713053C>T	uc003cqa.2	-	24	2899	c.2706G>A	c.(2704-2706)gaG>gaA	p.E902E	ALS2CL_uc003cpx.2_Silent_p.E249E|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Silent_p.E417E|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.E902E	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	902	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TCAGGTGGATCTCGGCTCCCA	0.612000														67			15		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111964046	111964046	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111964046G>A	uc001eba.3	-	7	811	c.755C>T	c.(754-756)cCc>cTc	p.P252L	OVGP1_uc001eaz.3_Missense_Mutation_p.P214L|OVGP1_uc010owb.2_Intron	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	252					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CTTCTCTGAGGGTGCCCCAAG	0.527000														92			27		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801106	185801106	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:185801106C>T	uc002uph.3	+	3	1577	c.983C>T	c.(982-984)tCa>tTa	p.S328L		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	328						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGTCAAAATTCAGTCCCATTA	0.323000														45			17		0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191187	6191187	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6191187G>A	uc010qzy.2	-	0	370	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCACAAAGCGATCAAAGGCC	0.498000														56			26		0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987664	61987664	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61987664G>A	uc002jda.1	-	3	391	c.329C>T	c.(328-330)tCc>tTc	p.S110F	CSHL1_uc002jcz.1_Missense_Mutation_p.S87F|CSHL1_uc002jdb.1_Missense_Mutation_p.S16F|CSHL1_uc002jdc.1_Missense_Mutation_p.S27F|CSHL1_uc002jdd.1_Missense_Mutation_p.S48F|CSHL1_uc021ubn.1_3'UTR	NM_022579	NP_001309	Q14406	CSHL_HUMAN	Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA.	110						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GAGCAGCAGGGAGATGTGGAG	0.627000														38			17		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63149732	63149733	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63149732_63149733CC>TT	uc001nww.3	+	5	1324_1325	c.1056_1057CC>TT	c.(1054-1059)tccctc>tcTTtc	p.L353F	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.	353					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAGGATCTCCCTCCTGTCCTT	0.401000														108			42		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65181297	65181297	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:65181297A>C	uc002lke.1	-	1	1803	c.579T>G	c.(577-579)ttT>ttG	p.F193L	LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Missense_Mutation_p.F193L	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	183						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGTTATATAAAAAGTCAAAGG	0.403000														51			28		0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788508	42788508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42788508C>T	uc002xli.1	-	1	1792	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	307					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGGAGCGTTCGCTCACGCCG	0.677000														49			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841872	13841872	+	Missense_Mutation	SNP	G	A	A	rs142155986	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13841872G>A	uc003jfd.2	-	32	5455	c.5413C>T	c.(5413-5415)Cgc>Tgc	p.R1805C		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1805	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)					GCTGCCTGGCGAATCACAAGA	0.408000									Kartagener syndrome					92			37		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581550	7581550	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7581550C>T	uc003mxp.1	+	22	5406	c.5127C>T	c.(5125-5127)ctC>ctT	p.L1709L	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1709	Central fibrous rod domain.				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)		TGCAGTCTCTCACAGAGAACC	0.463000														125			18		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31793040	31793040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:31793040C>T	uc003tcm.2	-	17	2549	c.2088G>A	c.(2086-2088)atG>atA	p.M696I	PDE1C_uc003tcn.1_Missense_Mutation_p.M696I|PDE1C_uc003tco.2_Missense_Mutation_p.M756I	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	696					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GAATCTTTTTCATTTTGATCC	0.468000														284			102		0	0	1	0	0
INTS12	57117	broad.mit.edu	37	4	106621017	106621017	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:106621017G>A	uc003hxw.3	-	2	404	c.146C>T	c.(145-147)cCa>cTa	p.P49L	INTS12_uc010ilr.3_Missense_Mutation_p.P49L	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA.	49					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		CTTTTGAGATGGACGGTAACT	0.388000														226			27		0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76426617	76426617	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:76426617C>T	uc002bbq.3	+	1	168	c.13C>T	c.(13-15)Cca>Tca	p.P5S	C15orf27_uc010bkp.3_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	5						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GGCTGTGGCTCCATCTTTCAA	0.463000														64			62		0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9943555	9943555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:9943555C>T	uc003gmc.3	-	5	857	c.796G>A	c.(796-798)Gag>Aag	p.E266K	SLC2A9_uc003gmd.3_Missense_Mutation_p.E237K	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	266					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GCTCTTGCCTCGTTGTGCTTC	0.582000														28			16		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10998243	10998243	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:10998243C>T	uc002yis.1	-	10		c.2010G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		TTTTTGACACCATCTGTTCCT	0.378000														191			13		0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87636987	87636987	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:87636987G>A	uc002fkd.3	+	0	489	c.235G>A	c.(235-237)Ggg>Agg	p.G79R	JPH3_uc010vou.1_Intron	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	79	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GGAGAGCAAGGGGAAGTGGGT	0.682000														7			9		0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39409223	39409223	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:39409223C>T	uc003gua.3	+	0	751	c.654C>T	c.(652-654)ttC>ttT	p.F218F	KLB_uc011byj.2_Silent_p.F218F	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	218	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						TAGATATCTTCAATGACTATG	0.393000														107			41		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929783	121929783	+	Missense_Mutation	SNP	C	T	T	rs145920249		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:121929783C>T	uc004bkc.2	-	7	2321	c.1865G>A	c.(1864-1866)cGg>cAg	p.R622Q		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	622					cell cycle arrest|cell death	cytoplasm	protein binding	p.R622R(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						TAGCCGAGTCCGACTACGTAG	0.532000														103			62		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74536434	74536434	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74536434G>A	uc002axo.3	+	1	524	c.130G>A	c.(130-132)Gct>Act	p.A44T		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	247							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCTCCATGGGGCTACCAACCT	0.617000														101			19		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54783815	54783815	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54783815C>T	uc002qfb.3	-	3	452	c.186G>A	c.(184-186)agG>agA	p.R62R	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.R62R|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.R62R|LILRB2_uc010yet.2_Splice_Site|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	62	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATTTTTTCTCCCTATATAGAC	0.552000														183			30		0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25279504	25279504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:25279504C>T	uc001isg.1	-	3	647	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	ENKUR_uc001ish.1_Missense_Mutation_p.R99Q	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	Homo sapiens enkurin, TRPC channel interacting protein (ENKUR), mRNA.	161						cilium|flagellum	SH3 domain binding|calmodulin binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TTCCTCGTTTCGCTTACATAT	0.358000														59			12		0	0	1	0	0
RNF157	114804	broad.mit.edu	37	17	74151734	74151734	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74151734G>A	uc002jqz.3	-	14	1676	c.1607C>T	c.(1606-1608)tCt>tTt	p.S536F	RNF157_uc002jra.3_Missense_Mutation_p.S536F|DQ570973_uc002jrb.1_Non-coding_Transcript	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	536	Ser-rich.						zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GTAGGAGCCAGACATGGAGGA	0.617000														29			8		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480344	140480344	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140480344G>A	uc003lio.3	+	0	111	c.111G>A	c.(109-111)gaG>gaA	p.E37E	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	37	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTGGCTGAGGAAAAAGAGA	0.512000														59			7		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100700	168100700	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:168100700G>A	uc002udx.3	+	8	2887	c.2798G>A	c.(2797-2799)cGa>cAa	p.R933Q	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R758Q|XIRP2_uc010fpq.3_Missense_Mutation_p.R711Q|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	758					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGTACACACGAACAGTGAAA	0.333000														51			25		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60757792	60757792	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:60757792G>A	uc002jad.3	+	15	2853	c.2451G>A	c.(2449-2451)cgG>cgA	p.R817R	MRC2_uc002jae.3_5'Flank|MRC2_uc002jaf.3_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	817					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGGACGTGCGGGAGCCCGACG	0.652000														134			46		0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105353206	105353206	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105353206C>T	uc001yps.3	+	10	2726	c.2420C>T	c.(2419-2421)cCc>cTc	p.P807L	KIAA0284_uc010axb.3_Missense_Mutation_p.P807L|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	877						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GCCAGTGGTCCCCCAGCGCCC	0.677000														47			15		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21208825	21208825	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21208825C>T	uc010bwn.1	-	18	2386	c.2304G>A	c.(2302-2304)gaG>gaA	p.E768E	ZP2_uc002dii.2_Silent_p.E738E	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	738					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)		CAGTCCTTTTCTCGTACAGGT	0.453000														77			11		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437709	120437709	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:120437709G>A	uc001eij.3	-	0	1439	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	417	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ACTCCTCTGTGGAACCACAGT	0.438000														155			50		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892662	166892662	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166892662G>A	uc002udo.4	-	17	3552	c.3325C>T	c.(3325-3327)Ccc>Tcc	p.P1109S	SCN1A_uc010fpk.3_Missense_Mutation_p.P1081S|SCN1A_uc021vsb.1_Missense_Mutation_p.P1098S	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1109						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTAAGACTGGGGTTGTTTATG	0.358000														114			56		0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	944731	944731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:944731C>T	uc003sjo.4	-	4	660	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	ADAP1_uc003sjm.4_5'UTR|ADAP1_uc011jvs.2_Missense_Mutation_p.R61Q|ADAP1_uc003sjn.4_Missense_Mutation_p.R84Q|ADAP1_uc010ksc.3_Missense_Mutation_p.R84Q	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	156	PH 1.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						AGCACCCTCTCGTTCTGTCAG	0.602000														54			32		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698458	169698458	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169698458G>A	uc001ggm.4	-	6	1116	c.959C>T	c.(958-960)tCc>tTc	p.S320F	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	320	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	p.H319Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TCCAGCAGGGGAATGGCTGCA	0.522000														37			10		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214889	140214889	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140214889T>C	uc003lhq.2	+	0	921	c.921T>C	c.(919-921)caT>caC	p.H307H	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_uc011dac.2_Silent_p.H307H	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	322	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATAGGACATATGGATTTTG	0.448000														27			16		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751996	247751996	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247751996C>T	uc010pyy.2	+	0	335	c.335C>T	c.(334-336)tCc>tTc	p.S112F		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCCCTGGGATCCACTGAGTGC	0.522000														129			50		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13563773	13563773	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:13563773G>A	uc002mwy.3	-	2	692	c.456C>T	c.(454-456)atC>atT	p.I152I	CACNA1A_uc010xnd.2_Silent_p.I152I|CACNA1A_uc021ups.1_Silent_p.I152I|CACNA1A_uc010xne.2_Silent_p.I152I|CACNA1A_uc010dze.2_Silent_p.I152I|CACNA1A_uc021upt.1_Silent_p.I152I	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	152					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CAAGGGCAATGATTTTAATTC	0.498000														139			57		0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7770734	7770734	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:7770734G>A	uc011bwk.1	-	17	2527	c.2254_splice	c.e17-1	p.S752_splice	AFAP1_uc003gkg.1_Splice_Site_p.S668_splice|AFAP1-AS1_uc003gkd.4_Intron	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	668						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GAACACTGGAGACTTAACGGA	0.547000														121			36		0	0	1	0	0
BPIFA1	51297	broad.mit.edu	37	20	31825928	31825928	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31825928C>T	uc002wyt.4	+	2	298	c.228C>T	c.(226-228)atC>atT	p.I76I	BPIFA1_uc002wyu.4_Silent_p.I76I|BPIFA1_uc002wyv.3_Silent_p.I76I	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA.	76					innate immune response	extracellular region	lipid binding										TCCTGGACATCCTGAAGCCTG	0.562000														75			28		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854285	12854285	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12854285G>A	uc001auj.2	+	2	612	c.509G>A	c.(508-510)tGg>tAg	p.W170*		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	170								p.W170L(3)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTTCCAGTGGGTTTACCAA	0.433000														495			45		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158074052	158074052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:158074052G>A	uc003ipj.2	+	8	1289	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	GLRB_uc021xtp.1_Intron|GLRB_uc021xtq.1_Missense_Mutation_p.E363K	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	363					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GGTTGAAGCTGAAAAAGCCAG	0.448000														51			15		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39023355	39023355	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39023355G>A	uc002oit.3	+	77	11368	c.11238G>A	c.(11236-11238)gaG>gaA	p.E3746E	RYR1_uc002oiu.3_Silent_p.E3741E|RYR1_uc002oiv.1_Silent_p.E661E|RYR1_uc010xuf.1_Silent_p.E666E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3746					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AAGCTGAAGAGGAGGTTGAGG	0.597000														44			19		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71977544	71977544	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:71977544C>T	uc001swl.3	+	17	1802	c.1754C>T	c.(1753-1755)tCc>tTc	p.S585F	LGR5_uc001swm.3_Missense_Mutation_p.S561F|LGR5_uc021rar.1_Missense_Mutation_p.S513F|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	585						integral to plasma membrane	protein-hormone receptor activity	p.R584K(2)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTTTTCAGATCCCCTCTGTAC	0.502000														117			36		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48669750	48669750	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48669750G>A	uc003cuf.1	-	40	10728	c.10728C>T	c.(10726-10728)atC>atT	p.I3576I	CELSR3_uc003cug.3_Silent_p.I150I|CELSR3_uc011bbp.2_Intron|CELSR3_uc010hke.3_Silent_p.I22I|CELSR3_uc003cuk.3_Intron|CELSR3_uc003cuh.3_Silent_p.I171I|CELSR3_uc003cui.3_Silent_p.I171I|CELSR3_uc003cuj.3_Silent_p.I171I	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGTCTCATTGATCATGGAGT	0.592000														27			26		0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43865643	43865643	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43865643C>T	uc002owi.3	+	8	1032	c.990C>T	c.(988-990)ccC>ccT	p.P330P	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	331	UPAR/Ly6 2.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GTGTGCAGCCCCTTGGAACCT	0.602000														69			9		0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	131781525	131781525	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:131781525G>A	uc010sci.2	+	1	481	c.150G>A	c.(148-150)ggG>ggA	p.G50G	NTM_uc001qgm.3_Silent_p.G50G|NTM_uc010sch.2_Silent_p.G41G|NTM_uc010scj.2_Silent_p.G9G|NTM_uc001qgo.3_Silent_p.G50G|NTM_uc001qgq.3_Silent_p.G50G|NTM_uc001qgp.3_Silent_p.G50G	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	50	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TCCGGCAGGGGGAGAGCGCCA	0.612000											OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		89			32		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18333104	18333104	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18333104C>T	uc010xqc.2	-	1	752	c.272G>A	c.(271-273)gGg>gAg	p.G91E	PDE4C_uc002nik.4_Missense_Mutation_p.G91E|PDE4C_uc002nil.4_Missense_Mutation_p.G91E|PDE4C_uc002nig.4_5'Flank|PDE4C_uc002nih.4_5'Flank|PDE4C_uc010ebk.3_5'UTR|PDE4C_uc002nii.4_Missense_Mutation_p.G59E|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_5'Flank|PDE4C_uc002nim.1_Missense_Mutation_p.G91E	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	91					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGCCCTCCTCCCACACGAGAG	0.637000														65			6		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114305109	114305109	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:114305109G>A	uc004bff.2	+	5	2118	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	632					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TCATTCAGGAGAAAAACCCTA	0.373000														58			13		0	0	1	0	0
MSI2	124540	broad.mit.edu	37	17	55704618	55704618	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:55704618C>T	uc002iuz.1	+	9	854	c.681C>T	c.(679-681)ggC>ggT	p.G227G	MSI2_uc010wnm.1_Silent_p.G205G|MSI2_uc002iva.3_Silent_p.G223G	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	Homo sapiens musashi homolog 2 (Drosophila) (MSI2), transcript variant 1, mRNA.	227						cytoplasm	RNA binding|nucleotide binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		CGACCTATGGCCGTGGCTACC	0.537000			T	HOXA9	CML									116			42		0	0	1	0	0
SET	6418	broad.mit.edu	37	9	131456259	131456259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131456259G>A	uc004bvt.4	+	6	1028	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	SET_uc022bol.1_Missense_Mutation_p.E241K|SET_uc004bvu.4_Missense_Mutation_p.E250K|SET_uc011mbj.2_Missense_Mutation_p.E239K	NM_001122821	NP_001116293	Q01105	SET_HUMAN	Homo sapiens SET nuclear oncogene (SET), transcript variant 1, mRNA.	263	Asp/Glu-rich (highly acidic).				DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		agatattgacgaagaagggga	0.383000			T	NUP214	AML									21			8		0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18769701	18769701	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:18769701C>T	uc010gri.1	-	0		c.144G>A			GGT3P_uc011ago.1_Non-coding_Transcript|GGT3P_uc011agp.1_Non-coding_Transcript|GGT3P_uc002zob.1_Non-coding_Transcript					Homo sapiens gamma-glutamyltransferase 3 pseudogene (GGT3P), non-coding RNA.																		TCCAGGACTGCCGCCAAGCCC	0.682000														94			16		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306918	54306918	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54306918G>A	uc021smr.1	+	0	1818	c.1818G>A	c.(1816-1818)ttG>ttA	p.L606L	UNC13C_uc021sms.1_Silent_p.L606L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	606					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)		ACCAGCATTTGAATGGAGGTG	0.502000														99			16		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96031005	96031005	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:96031005C>T	uc004ati.1	+	17	4010	c.4010C>T	c.(4009-4011)tCc>tTc	p.S1337F	WNK2_uc011lud.1_Missense_Mutation_p.S1337F|WNK2_uc004atj.3_Missense_Mutation_p.S1337F|WNK2_uc004atk.3_Missense_Mutation_p.S974F	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1337					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCTCTAAGCTCCCTGCCGCCA	0.627000														32			8		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47842882	47842882	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:47842882G>A	uc003tny.2	-	52	7922	c.7888C>T	c.(7888-7890)Cct>Tct	p.P2630S	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2630					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGAATGCCAGGAAGATAGACG	0.498000														46			32		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634323	32634323	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:32634323C>T	uc003zrg.1	-	0	1345	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	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.	419					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)		AGGAAGTTTTCGTCAGCCAGA	0.443000														246			65		0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33433180	33433180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33433180G>A	uc002xay.3	-	14	1983	c.1940C>T	c.(1939-1941)gCt>gTt	p.A647V	GGT7_uc010gex.3_Non-coding_Transcript	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA.	647					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GTCCTTAACAGCGATGATGAA	0.577000														43			21		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466838	56466838	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56466838G>A	uc002qmh.3	+	2	1485	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	NLRP8_uc010etg.3_Missense_Mutation_p.E472K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	472	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTTAGGTAAAGAAGATCTTGA	0.498000														110			42		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31915571	31915571	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31915571C>T	uc003nyj.4	+	4	989	c.711C>T	c.(709-711)tcC>tcT	p.S237S	CFB_uc011dor.2_Silent_p.S739S|CFB_uc003nyi.2_Silent_p.S237S	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	237					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCCTGTCTTCCCTGACAGAGA	0.547000														184			87		0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102241367	102241367	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:102241367G>A	uc002bxm.3	-	9	1297	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	TARSL2_uc002bxl.3_5'UTR|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	414					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCAAATCGTGGAAAAAGAAAA	0.323000														51			46		0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18170872	18170872	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18170872C>T	uc002nhx.1	-	16	1986	c.1935G>A	c.(1933-1935)gtG>gtA	p.V645V	IL12RB1_uc002nhw.1_Silent_p.V605V|IL12RB1_uc010xqb.1_Silent_p.V605V	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	605					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCTGGAAGTCCACTGGGTTGA	0.592000														18			3		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73046169	73046169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:73046169G>A	uc001sxa.3	+	15	2638	c.2608G>A	c.(2608-2610)Gaa>Aaa	p.E870K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	870					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						GGATGTCTGGGAATTCATATG	0.378000														84			28		0	0	1	0	0
GBE1	2632	broad.mit.edu	37	3	81698074	81698074	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:81698074G>A	uc021xav.1	-	4	906	c.624C>T	c.(622-624)tcC>tcT	p.S208S	GBE1_uc021xax.1_Silent_p.S167S	NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	208					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TTCCTTCATGGGAAGAAATTC	0.318000									Glycogen Storage Disease, type IV					18			9		0	0	1	0	0
RNF186	54546	broad.mit.edu	37	1	20141139	20141139	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:20141139G>A	uc001bcr.3	-	0	633	c.456C>T	c.(454-456)gcC>gcT	p.A152A		NM_019062	NP_061935	Q9NXI6	RN186_HUMAN	Homo sapiens ring finger protein 186 (RNF186), mRNA.	152						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGCGCCGGGCTGCCACGT	0.607000														141			28		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932157	83932157	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83932157C>G	uc002bjt.1	-	3	1934	c.1846G>C	c.(1846-1848)Gag>Cag	p.E616Q	BNC1_uc010uos.1_Missense_Mutation_p.E604Q	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	616					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CCACTGGACTCAATTACTGAT	0.542000														122			7		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57286838	57286838	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57286838G>A	uc002qnr.2	-	10	1184	c.802C>T	c.(802-804)Cct>Tct	p.P268S	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Missense_Mutation_p.P64S|PEG3_uc010ygq.1_Missense_Mutation_p.P64S|PEG3_uc010etp.2_Missense_Mutation_p.P268S|PEG3_uc010ygs.1_Missense_Mutation_p.P268S|PEG3_uc002qnq.2_Missense_Mutation_p.P268S	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	419					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATTGTTATAGGAGTCAAAAGT	0.443000														92			29		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72993646	72993646	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:72993646G>A	uc002fck.3	-	1	1072	c.399C>T	c.(397-399)atC>atT	p.I133I	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	133					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGGTAGACGATCTCCCCGG	0.711000														47			17		0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62178649	62178649	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62178649G>A	uc002yfi.1	-	0	209	c.168C>T	c.(166-168)ttC>ttT	p.F56F		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	56	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGAGCGCAAGGAAGAGCTGAG	0.701000														20			6		0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27949645	27949645	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27949645C>T	uc001boj.3	-	1	383	c.237G>A	c.(235-237)gtG>gtA	p.V79V	FGR_uc001bok.3_Silent_p.V79V|FGR_uc001bol.3_Silent_p.V79V|FGR_uc001bom.3_Silent_p.V79V	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	79	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGAACAGGGTCACCCCAATCC	0.562000														24			10		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887508	9887508	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:9887508C>T	uc002koi.4	+	1	1481	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	TXNDC2_uc002koh.4_Silent_p.I277I|TXNDC2_uc021ugx.1_Silent_p.I277I	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	344	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGGGTGACATCCCCAAGTCCC	0.577000														133			68		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335524	20335524	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20335524G>A	uc002dgv.3	-	2	232	c.149C>T	c.(148-150)gCt>gTt	p.A50V	GP2_uc002dgw.3_Missense_Mutation_p.A50V|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	50						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGTGCCAGGAGCTCCGCAGTC	0.547000														57			12		0	0	1	0	0
NOXRED1	122945	broad.mit.edu	37	14	77861022	77861022	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:77861022G>A	uc001xtr.3	-	5	1199	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S		NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	Homo sapiens NADP-dependent oxidoreductase domain containing 1 (NOXRED1), mRNA.	344					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CTTTGGTTAGGGAGATGCCAA	0.443000														58			30		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092458	30092458	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:30092458C>T	uc010dmc.3	+	0		c.833C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		GATGTATGGCCGTAAAGTGGG	0.532000														103			53		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52942981	52942981	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:52942981C>T	uc002lga.3	-	10	1024	c.964G>A	c.(964-966)Ggc>Agc	p.G322S	TCF4_uc021ukg.1_Missense_Mutation_p.G60S|TCF4_uc021ukh.1_Missense_Mutation_p.G60S|TCF4_uc002lfw.4_Missense_Mutation_p.G60S|TCF4_uc010xdu.1_Missense_Mutation_p.G90S|TCF4_uc010xdv.1_Missense_Mutation_p.G90S|TCF4_uc021uki.1_Missense_Mutation_p.G149S|TCF4_uc002lfx.2_Missense_Mutation_p.G149S|TCF4_uc010xdw.1_Missense_Mutation_p.G90S|TCF4_uc002lfy.2_Missense_Mutation_p.G178S|TCF4_uc010xdx.1_Missense_Mutation_p.G196S|TCF4_uc021ukj.1_Missense_Mutation_p.G160S|TCF4_uc021ukk.1_Missense_Mutation_p.G160S|TCF4_uc021ukl.1_Missense_Mutation_p.G218S|TCF4_uc002lfz.2_Missense_Mutation_p.G220S|TCF4_uc010dph.1_Missense_Mutation_p.G220S|TCF4_uc010dpi.3_Missense_Mutation_p.G226S|TCF4_uc010xdy.1_Missense_Mutation_p.G196S|TCF4_uc002lgc.4_Missense_Mutation_p.G141S|TCF4_uc021ukm.1_Missense_Mutation_p.M104I	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	220					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CTGTGATGGCCATCTGTAAAG	0.463000														157			24		0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200143213	200143213	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:200143213C>T	uc001gvb.3	+	7	1707	c.1501C>T	c.(1501-1503)Ctt>Ttt	p.L501F	NR5A2_uc001gvc.3_Missense_Mutation_p.L455F|NR5A2_uc009wzh.3_Missense_Mutation_p.L461F|NR5A2_uc010pph.2_Missense_Mutation_p.L429F	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	501					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					ACAGCTACTTCTTCGACTACC	0.498000														30			16		0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064729	78064729	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:78064729C>T	uc002ffh.4	+	2	666	c.585C>T	c.(583-585)atC>atT	p.I195I	CLEC3A_uc021tlr.1_Silent_p.I143I	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	195					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						AGTTCACCATCCCTCAATAGG	0.423000														42			5		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30316198	30316198	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:30316198G>A	uc002ymr.2	-	22	4162	c.4149C>T	c.(4147-4149)tcC>tcT	p.S1383S		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	1337							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CATTCTGAAAGGATGTTTCAG	0.358000														112			43		0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21840062	21840063	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21840062_21840063GG>AA	uc001wao.2	-	2	639_640	c.300_301CC>TT	c.(298-303)gcccct>gcTTct	p.P101S		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	101					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GTGATGGCAGGGGCTCCATTAG	0.381000														60			16		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701687	56701687	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56701687G>A	uc010ygh.2	-	3	997	c.997C>T	c.(997-999)Cat>Tat	p.H333Y		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	333					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCTGGGGAATGAACTGGATTG	0.547000														104			37		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322440	55322440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55322440C>T	uc010rig.2	+	0	658	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTTCCAGCTTCCCTTTTGTGG	0.478000										HNSCC(20;0.049)				49			10		0	0	1	0	0
GALNT7	51809	broad.mit.edu	37	4	174169386	174169386	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:174169386C>T	uc003isz.4	+	1	465	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C		NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.	128					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TCCTGTGCTTCGCCCAGGGAT	0.512000														61			32		0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69652691	69652691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:69652691C>T	uc001sut.4	+	5	1126	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L	CPSF6_uc001suu.4_Missense_Mutation_p.P376L|CPSF6_uc010stk.2_5'UTR	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	339	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ACACTAGCTCCTCCTCCGCAT	0.627000														172			41		0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	488989	488989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:488989C>T	uc003mtd.3	-	26	2805	c.2671G>A	c.(2671-2673)Gca>Aca	p.A891T	EXOC2_uc003mte.3_Missense_Mutation_p.A891T|EXOC2_uc011dho.2_Missense_Mutation_p.A486T	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	891					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTTTTATCTGCTCCACTGGAA	0.428000														174			76		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30350522	30350522	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:30350522G>A	uc002kxm.1	-	1	421	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	11						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GGCTGGGGTCGAAGGTGGAGG	0.642000														62			16		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124402857	124402857	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124402857C>T	uc001lgk.1	+	52	7291	c.7185C>T	c.(7183-7185)gtC>gtT	p.V2395V	DMBT1_uc001lgl.1_Silent_p.V2385V|DMBT1_uc001lgm.1_Silent_p.V1767V|DMBT1_uc021qaf.1_Silent_p.V2395V|DMBT1_uc021qag.1_Silent_p.V2385V|DMBT1_uc021qah.1_Silent_p.V1767V|DMBT1_uc009xzz.1_Silent_p.V2394V|DMBT1_uc010qtx.1_Silent_p.V1115V|DMBT1_uc009yab.1_Silent_p.V1098V|DMBT1_uc009yac.1_Silent_p.V689V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2395					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.V2395V(4)|p.V2524V(2)		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)				AGGTGGACGTCGTCCTGGGTC	0.647000														48			9		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6947245	6947245	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:6947245G>A	uc002knm.3	-	60	8855	c.8761C>T	c.(8761-8763)Cga>Tga	p.R2921*	LAMA1_uc002knk.3_Nonsense_Mutation_p.R251*|LAMA1_uc002knl.3_Nonsense_Mutation_p.R374*|LAMA1_uc010wzj.2_Nonsense_Mutation_p.R2397*	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2921	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGGAGGTTCGAAACTCCAGT	0.562000														57			23		0	0	1	0	0
VN1R10P	387316	broad.mit.edu	37	6	27293490	27293490	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:27293490G>A	uc010jqt.3	+	0	951	c.429G>A	c.(427-429)ttG>ttA	p.L143L		NM_032030	NP_114419			SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b;																		CTTTGATATTGATTAATTATG	0.328000														44			13		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35131484	35131484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:35131484G>A	uc003teq.1	-	19	2209	c.1102C>T	c.(1102-1104)Cca>Tca	p.P368S	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TCGTAAAGTGGATGATTCACA	0.418000														63			23		0	0	1	0	0
LCE3D	84648	broad.mit.edu	37	1	152552347	152552347	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152552347G>A	uc021oza.1	-	0	66	c.66C>T	c.(64-66)ccC>ccT	p.P22P	LCE3D_uc001fab.3_Silent_p.P22P	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	Homo sapiens late cornified envelope 3D (LCE3D), mRNA.	22					keratinization			p.C21F(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GGCTCTTTGGGGGACACTTGG	0.607000														151			24		0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681174	3681174	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:3681174G>A	uc001lye.1	+	2	526	c.425G>A	c.(424-426)cGg>cAg	p.R142Q	ART1_uc009yeb.1_Missense_Mutation_p.R142Q	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	142					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GGCCGCTCCCGGGCCCACTAC	0.667000														49			26		0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123301256	123301256	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:123301256C>T	uc003ieo.3	+	2	264	c.32C>T	c.(31-33)tCg>tTg	p.S11L	ADAD1_uc003iep.3_Missense_Mutation_p.S11L|ADAD1_uc003ieq.3_5'UTR	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	11					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTCAGAGTTCGCAGGTCCCC	0.433000														43			16		0	0	1	0	0
AMELX	265	broad.mit.edu	37	X	11316365	11316365	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:11316365C>T	uc004cus.3	+	4	222	c.154C>T	c.(154-156)Cct>Tct	p.P52S	ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.3_Missense_Mutation_p.P38S|AMELX_uc004cuu.3_Missense_Mutation_p.P22S	NM_182680	NP_872621	Q99217	AMELX_HUMAN	Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA.	38					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						GGTGCTTACCCCTTTGAAGTG	0.353000														117			68		0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101906464	101906464	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:101906464C>T	uc002bxa.2	-	13	2106	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	PCSK6_uc010bpd.3_Missense_Mutation_p.E395K|PCSK6_uc002bwy.3_Missense_Mutation_p.E598K|PCSK6_uc010bpe.3_Missense_Mutation_p.E595K|PCSK6_uc002bxb.2_Missense_Mutation_p.E598K|PCSK6_uc002bxc.1_Missense_Mutation_p.E598K|PCSK6_uc002bxd.1_Missense_Mutation_p.E598K|PCSK6_uc002bxe.3_Missense_Mutation_p.E598K	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	599	Homo B/P.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACTGCCCTTCAGCCTTTTCT	0.502000														26			26		0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138978066	138978066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:138978066C>T	uc011kqr.2	+	15	3758	c.3758C>T	c.(3757-3759)cCt>cTt	p.P1253L		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	1253										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AATGTGACTCCTTTTGGGATG	0.488000														89			46		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32172034	32172034	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32172034C>T	uc003obb.3	-	18	3137	c.2998G>A	c.(2998-3000)Ggg>Agg	p.G1000R	NOTCH4_uc003oba.3_5'Flank|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1000	EGF-like 25.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGCGTAGCCCCACAAAGCCT	0.592000														47			20		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848668	73848668	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:73848668G>A	uc003xzb.3	+	2	1666	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	360					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)			TGAGAAGGATGAAGATGCTAC	0.438000														182			40		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41585482	41585482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:41585482C>T	uc003xok.3	-	3	355	c.271G>A	c.(271-273)Gat>Aat	p.D91N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.D91N|ANK1_uc003xoj.3_Missense_Mutation_p.D91N|ANK1_uc003xol.3_Missense_Mutation_p.D91N|ANK1_uc003xom.3_Missense_Mutation_p.D124N	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	91	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACCACCTCATCCTGCCCGGCT	0.602000														65			13		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160114891	160114891	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:160114891C>T	uc003lym.1	-	4	1038	c.191G>A	c.(190-192)aGg>aAg	p.R64K	ATP10B_uc003lyp.2_Missense_Mutation_p.R64K|ATP10B_uc011deg.1_Missense_Mutation_p.R108K|ATP10B_uc003lyo.2_5'Flank	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	64					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	p.R64R(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGTATCTCCTGGAGACCTC	0.498000														210			14		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38758068	38758068	+	Missense_Mutation	SNP	G	A	A	rs145862170		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38758068G>A	uc021yzh.1	+	19	2777	c.2668G>A	c.(2668-2670)Gaa>Aaa	p.E890K	DNAH8_uc003ooe.2_Missense_Mutation_p.E673K	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTCTAGGTGGAATCTGTGTT	0.353000														139			19		0	0	1	0	0
APCDD1L	164284	broad.mit.edu	37	20	57035978	57035978	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:57035978C>T	uc010zzp.1	-	4	1731	c.1407G>A	c.(1405-1407)gaG>gaA	p.E469E	APCDD1L_uc002xze.1_Silent_p.E458E	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA.	458						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			AGTCGGGGGCCTCCCCATGAC	0.627000														74			28		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120172084	120172084	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:120172084G>A	uc001txj.2	-	25	3291	c.3235C>T	c.(3235-3237)Cta>Tta	p.L1079L	CIT_uc001txh.2_Silent_p.L571L|CIT_uc001txi.2_Silent_p.L1037L	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1037					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTTTTTCTAGCAGCTCATCG	0.542000														74			23		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661734	77661734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77661734C>T	uc011cbx.2	+	4	3361	c.2408C>T	c.(2407-2409)tCt>tTt	p.S803F	SHROOM3_uc011cbz.1_Missense_Mutation_p.S627F|SHROOM3_uc003hkf.1_Missense_Mutation_p.S678F|SHROOM3_uc003hkg.3_Missense_Mutation_p.S581F	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	803					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GTGGGCGGCTCTGGTTTTGGC	0.552000														65			21		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19426164	19426164	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19426164C>T	uc010tcj.1	-	0		c.19946G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GCCAACCATTCATGCAGTGTT	0.388000														111			40		0	0	1	0	0
WDR92	116143	broad.mit.edu	37	2	68358422	68358422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:68358422G>A	uc002see.1	-	7	1103	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	WDR92_uc002sed.1_Non-coding_Transcript	NM_138458	NP_612467	Q96MX6	WDR92_HUMAN	Homo sapiens WD repeat domain 92 (WDR92), mRNA.	341					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						TTGGTCAAATGAACTACAGAC	0.463000														154			44		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6184597	6184597	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6184597C>T	uc001qnn.1	-	6	1028	c.778G>A	c.(778-780)Ggg>Agg	p.G260R	VWF_uc010set.1_Missense_Mutation_p.G260R	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	260					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CACTCCAGCCCCCCAGCACAC	0.642000														52			8		0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101276378	101276378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:101276378G>A	uc003yjj.1	-	7	1669	c.1352C>T	c.(1351-1353)cCa>cTa	p.P451L	RNF19A_uc003yjk.1_Missense_Mutation_p.P451L	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	451					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			AAGAGAAATTGGAACTACGCC	0.363000														31			29		0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156128253	156128253	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156128253C>T	uc001fnl.3	+	4	617	c.438C>T	c.(436-438)gcC>gcT	p.A146A	SEMA4A_uc009wrq.3_Silent_p.A146A|SEMA4A_uc001fnm.3_Silent_p.A146A|SEMA4A_uc001fnn.3_Intron|SEMA4A_uc001fno.3_Silent_p.A146A	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	146	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GCACCTTCGCCTTCAGCCCTG	0.522000														197			18		0	0	1	0	0
SPTLC1	10558	broad.mit.edu	37	9	94809925	94809925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:94809925G>A	uc011ltv.1	-	9	992	c.954C>T	c.(952-954)tgC>tgT	p.C318C	SPTLC1_uc004arl.1_Silent_p.C318C			O15269	SPTC1_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 1 (SPTLC1), transcript variant 1, mRNA.	318						SPOTS complex|integral to membrane	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACCTGCCACAGCAGAAACCTC	0.393000														32			7		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827087	96827087	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96827087C>T	uc001kkb.3	-	2	454	c.359G>A	c.(358-360)tGg>tAg	p.W120*	CYP2C8_uc010qoa.2_Nonsense_Mutation_p.W50*|CYP2C8_uc010qoc.2_Nonsense_Mutation_p.W18*|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Nonsense_Mutation_p.W34*|CYP2C8_uc021pwl.1_Nonsense_Mutation_p.W50*|CYP2C8_uc010qod.1_Nonsense_Mutation_p.W34*	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	120					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GATCTCCTTCCATCTCTTTCC	0.488000														77			45		0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104032288	104032288	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104032288G>A	uc004bbb.3	+	2	589	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	LPPR1_uc011lvi.2_Missense_Mutation_p.E40K|LPPR1_uc004bbc.3_Missense_Mutation_p.E64K|LPPR1_uc010mtc.3_Missense_Mutation_p.E48K	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	64						integral to membrane	catalytic activity										AGGGACAGAGGAAGAAAGCTT	0.463000														50			4		0	0	1	0	0
TCRVA15	0	broad.mit.edu	37	14	22217766	22217766	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22217766C>T	uc010aiq.1	+	1	196	c.117C>T	c.(115-117)tcC>tcT	p.S39S	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Silent_p.S35S					Homo sapiens mRNA for T cell receptor alpha variable 5, partial cds, clone: SEB 96.																		GAGACAGCTCCGTTATAAACT	0.463000														35			11		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121976229	121976229	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121976229C>T	uc003eew.4	+	2	925	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S	CASR_uc003eev.4_Missense_Mutation_p.P163S	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	163					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	p.P163S(2)		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)	CTTCTACATTCCCCAGGTACT	0.567000														69			17		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178416282	178416282	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178416282G>A	uc003mjr.3	-	4	1316	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S	GRM6_uc010jla.1_5'UTR|GRM6_uc003mjs.1_5'UTR	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	379					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ATTTGCGGGTGGAATCGTCTG	0.612000														36			21		0	0	1	0	0
SF3B4	10262	broad.mit.edu	37	1	149899118	149899118	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:149899118G>A	uc001etk.2	-	1	596	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	SF3B4_uc009wll.1_Nonsense_Mutation_p.Q35*	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	Homo sapiens splicing factor 3b, subunit 4, 49kDa (SF3B4), mRNA.	35	RRM 1.					U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGTCCAGCCTGGAGAAACAGT	0.562000														83			15		0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69699102	69699102	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:69699102C>T	uc004dyi.2	+	9	1855	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	DLG3_uc004dyj.2_Missense_Mutation_p.S166F|DLG3_uc011mpn.2_Missense_Mutation_p.S20F	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	503	SH3.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GAAAAGAGGTCCTTGTATGTC	0.493000														29			40		0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17539536	17539536	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:17539536C>T	uc003ncb.3	+	7	916	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.L199F|CAP2_uc011djb.2_Missense_Mutation_p.L161F|CAP2_uc011djc.2_Missense_Mutation_p.L113F|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	225					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GTTTTCTGTCCTCTCCTCTGG	0.552000														180			34		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11384820	11384820	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:11384820C>T	uc003jfa.1	-	6	1279	c.1134G>A	c.(1132-1134)gaG>gaA	p.E378E	CTNND2_uc010itt.2_Silent_p.E287E|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	378					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGCATACAGCTCCTGCGAGT	0.692000														12			7		0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70978497	70978497	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:70978497C>T	uc003xym.3	-	4	1358	c.1156G>A	c.(1156-1158)Ggg>Agg	p.G386R		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GGCTGCTTCCCCGGCTCTGTG	0.537000														73			8		0	0	1	0	0
NR6A1	2649	broad.mit.edu	37	9	127300526	127300526	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:127300526G>A	uc004bor.1	-	5	847	c.669C>T	c.(667-669)taC>taT	p.Y223Y	NR6A1_uc004boq.1_Silent_p.Y218Y|NR6A1_uc010mwq.1_Silent_p.Y219Y	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA.	223	Sufficient for interaction with UIMC1 (By similarity).				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GTATATATTGGTAATGTGGAG	0.493000														66			23		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168176541	168176541	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:168176541C>T	uc010jjg.3	-	18	2493	c.2073G>A	c.(2071-2073)caG>caA	p.Q691Q	SLIT3_uc003mab.3_Silent_p.Q691Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	691	LRRCT 3.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAATGGCTTCTGGCACCTAG	0.572000														81			38		0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96059665	96059665	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:96059665C>T	uc001tei.3	-	8	2120	c.1671G>A	c.(1669-1671)ctG>ctA	p.L557L	NTN4_uc009ztf.3_Silent_p.L534L|NTN4_uc009ztg.3_Silent_p.L520L	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	557	NTR.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GGAAAATCTTCAGTTTGGTAG	0.363000														70			19		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20850797	20850797	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20850797G>A	uc001vxe.3	-	27	4165	c.4125C>T	c.(4123-4125)ttC>ttT	p.F1375F	TEP1_uc010ahk.3_Silent_p.F718F|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.F1267F|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1375	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CATACAGCGTGAAGAGCCTCA	0.552000														70			29		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3101050	3101050	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:3101050C>T	uc021xkv.1	+	2	542	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	133					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGAACTTTTTCTGCTGTGCAG	0.438000														88			9		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106774297	106774297	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106774297G>A	uc021ser.1	-	682		c.18548C>T								Parts of antibodies, mostly variable regions.																		AGCCTTGCAGGAAACCTTCAA	0.542000														36			20		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908168	103908168	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:103908168G>A	uc001phr.2	+	0	861	c.618G>A	c.(616-618)ctG>ctA	p.L206L	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	206					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCGACCCACTGGATCGGGAAG	0.507000														91			21		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31066223	31066223	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:31066223G>A	uc002yno.1	-	1	742	c.278C>T	c.(277-279)tCg>tTg	p.S93L	GRIK1_uc002ynn.3_Missense_Mutation_p.S93L|GRIK1_uc011acs.2_Missense_Mutation_p.S93L|GRIK1_uc011act.2_Intron|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.3_Missense_Mutation_p.S93L	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	93					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	ACCTCTCCGCGAGGCTTCAAA	0.423000														100			46		0	0	1	0	0
GEMIN7	79760	broad.mit.edu	37	19	45593555	45593555	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45593555C>T	uc002pap.1	+	2	334	c.183C>T	c.(181-183)gcC>gcT	p.A61A	PPP1R37_uc021uvs.1_5'Flank|GEMIN7_uc002paq.1_Silent_p.A61A|GEMIN7_uc002par.1_Silent_p.A61A|GEMIN7_uc021uvr.1_Silent_p.A61A	NM_001007270	NP_078983	Q9H840	GEMI7_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 7 (GEMIN7), transcript variant 3, mRNA.	61					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		CACGAGCCGCCCTTCGGGAGC	0.627000														44			8		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45459056	45459056	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:45459056C>T	uc001rol.3	-	0		c.139G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		AATTGGAGTTCGTTTCCTTCC	0.443000														26			13		0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61291930	61291930	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:61291930C>T	uc001nrv.3	-	5	749	c.697G>A	c.(697-699)Gac>Aac	p.D233N	SYT7_uc009ynr.3_Missense_Mutation_p.D308N	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	233	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCAATGGGGTCGTTGCGGCTG	0.547000														47			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640263	179640263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179640263C>T	uc021vsy.1	-	27	6553	c.6328G>A	c.(6328-6330)Gaa>Aaa	p.E2110K	TTN_uc021vsz.1_Missense_Mutation_p.E2064K|TTN_uc021vta.1_Missense_Mutation_p.E2064K|TTN_uc021vtb.1_Missense_Mutation_p.E2064K|TTN_uc002unb.2_Missense_Mutation_p.E2110K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2110	Ig-like 10.						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)			TTGTACCATTCACATTCGGGG	0.483000														58			6		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683361	100683361	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100683361C>T	uc003uxp.1	+	2	8717	c.8664C>T	c.(8662-8664)acC>acT	p.T2888T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2888	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T2888T(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGCTAGCACCCTTTCAACAA	0.483000														478			171		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79343150	79343150	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:79343150C>T	uc003hlb.2	+	33	5114	c.4674C>T	c.(4672-4674)ttC>ttT	p.F1558F	FRAS1_uc003hkw.3_Silent_p.F1558F|FRAS1_uc010ijj.2_Intron	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1557					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTTCTCGTTCGCTGGTAATG	0.567000														124			51		0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57883740	57883740	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57883740C>T	uc001sog.3	+	4	630	c.476C>T	c.(475-477)cCc>cTc	p.P159L	ARHGAP9_uc001sod.3_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Intron|MARS_uc010srq.1_Intron	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	159	GST C-terminal.				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGCAAGATCCCGCCTACCTC	0.473000														171			48		0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127570141	127570141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:127570141C>T	uc004bov.3	+	6	1363	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V	OLFML2A_uc004bow.3_Missense_Mutation_p.A203V	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	417	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CACGAGGGAGCCTGGATGAAG	0.612000														38			19		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008108	41008108	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41008108G>A	uc002ony.3	+	8	1057	c.971G>A	c.(970-972)tGg>tAg	p.W324*	SPTBN4_uc002onx.3_Nonsense_Mutation_p.W324*|SPTBN4_uc002onz.3_Nonsense_Mutation_p.W324*	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	324					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGCTGGCCTGGATCCACCGC	0.582000														76			30		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160100331	160100331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160100331C>T	uc001fvc.3	+	12	1903	c.1771C>T	c.(1771-1773)Cct>Tct	p.P591S	ATP1A2_uc001fvb.2_Missense_Mutation_p.P591S|ATP1A2_uc001fvd.3_Missense_Mutation_p.P327S|ATP1A2_uc009wtg.1_Missense_Mutation_p.P279S	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	591					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TATGATTGACCCTCCCCGGGC	0.577000														75			26		0	0	1	0	0
TMEM107	84314	broad.mit.edu	37	17	8079185	8079185	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:8079185G>A	uc002gkh.4	-	2	274	c.164C>T	c.(163-165)cCt>cTt	p.P55L	TMEM107_uc002gkg.4_Intron|TMEM107_uc002gki.4_Missense_Mutation_p.P55L|TMEM107_uc002gkj.4_Intron|TMEM107_uc002gkk.2_Intron	NM_032354	NP_115730	Q6UX40	TM107_HUMAN	Homo sapiens transmembrane protein 107 (TMEM107), transcript variant 1, mRNA.	51						integral to membrane				large_intestine(1)|lung(4)|ovary(1)	6						CCTGCAGAGAGGAAGTGGACT	0.602000														48			45		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88583472	88583472	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:88583472G>A	uc003hqv.3	+	5	646	c.542G>A	c.(541-543)gGt>gAt	p.G181D	DMP1_uc003hqw.3_Missense_Mutation_p.G165D	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	181					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CCTGAGGGAGGTGACTCCACT	0.587000														34			13		0	0	1	0	0
VSX2	338917	broad.mit.edu	37	14	74711967	74711968	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:74711967_74711968GG>AA	uc001xpq.3	+	2	645_646	c.555_556GG>AA	c.(553-558)acggag>acAAag	p.E186K		NM_182894	NP_878314	P58304	VSX2_HUMAN	Homo sapiens visual system homeobox 2 (VSX2), mRNA.	186					multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		CCATGAAAACGGAGCTGCCGGA	0.579000														55			15		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123036904	123036904	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:123036904G>A	uc003egh.2	-	10	2317	c.2317C>T	c.(2317-2319)Ctc>Ttc	p.L773F	ADCY5_uc021xdd.1_Missense_Mutation_p.L423F|ADCY5_uc003egg.2_Missense_Mutation_p.L406F|ADCY5_uc003egi.1_Missense_Mutation_p.L332F	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	773					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CAGATGAAGAGGAAGACGAGC	0.597000														83			7		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21641177	21641177	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:21641177A>T	uc003svc.3	+	17	3620	c.3589A>T	c.(3589-3591)Atc>Ttc	p.I1197F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1197	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAAGAAACGATCACCCTCTT	0.418000									Kartagener syndrome					19			9		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1251138	1251138	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1251138G>A	uc002qwq.3	+	11	1057	c.928G>A	c.(928-930)Gct>Act	p.A310T	SNTG2_uc010ewi.3_Missense_Mutation_p.A183T	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	310	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ACTCCAAGGAGCTGACTCCTC	0.498000														34			13		0	0	1	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6521818	6521818	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6521818G>A	uc001anh.3	-	9	1045	c.957C>T	c.(955-957)ccC>ccT	p.P319P	TNFRSF25_uc001ana.3_Silent_p.P127P|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_Silent_p.P83P|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Silent_p.P310P|TNFRSF25_uc001anf.3_Silent_p.P273P|TNFRSF25_uc001ang.3_Silent_p.P265P	NM_148965	NP_683866	Q93038	TNR25_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.	310					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GCGCAGCAGCGGGGCCTGGGG	0.716000														1			3		0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798992	212798992	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:212798992C>T	uc010pth.1	-	0		c.1122G>A			FAM71A_uc001hjk.3_Missense_Mutation_p.S258F			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CTCAATGCATCCATCCCCAAA	0.552000														125			53		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36273299	36273299	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36273299C>T	uc002obs.2	+	12	1254	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	ARHGAP33_uc002obr.2_Silent_p.I370I|ARHGAP33_uc002obt.2_Silent_p.I234I|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	370	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GTGAGAGGATCCCGGAGCTGT	0.612000														84			24		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64556357	64556357	+	Silent	SNP	C	T	T	rs111652000		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:64556357C>T	uc001xgl.3	+	58	11966	c.11736C>T	c.(11734-11736)atC>atT	p.I3912I	SYNE2_uc001xgm.3_Silent_p.I3912I|SYNE2_uc021ruh.1_Silent_p.I3945I|SYNE2_uc010apy.3_Silent_p.I297I|SYNE2_uc010apx.1_Silent_p.I304I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3912					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCAAAACTATCCTATTATCAA	0.279000														57			27		0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092491	151092491	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151092491C>T	uc022cgv.1	+	0	355	c.355C>T	c.(355-357)Cat>Tat	p.H119Y	MAGEA4_uc004fez.3_Missense_Mutation_p.H119Y|MAGEA4_uc004ffa.3_Missense_Mutation_p.H119Y|MAGEA4_uc004ffb.3_Missense_Mutation_p.H119Y|MAGEA4_uc022cgu.1_Missense_Mutation_p.H147Y|MAGEA4_uc004ffc.3_Missense_Mutation_p.H119Y|MAGEA4_uc004ffd.3_Missense_Mutation_p.H119Y	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	119	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTTGGCTCATTTTCTGCT	0.517000														36			39		0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954428	12954428	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12954428C>T	uc001auo.3	-	2	928	c.855G>A	c.(853-855)gaG>gaA	p.E285E		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	285										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGCAGGTGCTCCAGGTGCT	0.443000														106			15		0	0	1	0	0
FXYD5	53827	broad.mit.edu	37	19	35660507	35660507	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35660507C>T	uc002nyg.2	+	8	614	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	FXYD5_uc021usk.1_Missense_Mutation_p.R176C|FXYD5_uc002nyh.2_Missense_Mutation_p.R176C|FXYD5_uc021usl.1_Missense_Mutation_p.R176C|FXYD5_uc002nyi.2_Missense_Mutation_p.R113C|FXYD5_uc002nyj.1_Non-coding_Transcript	NM_014164	NP_659003	Q96DB9	FXYD5_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 5 (FXYD5), transcript variant 2, mRNA.	176			R -> H (in dbSNP:rs12110).		microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ATGCCGGAATCGTTGCAGGTG	0.562000														25			12		0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144359486	144359486	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:144359486C>T	uc003ijd.3	+	3	1287	c.928C>T	c.(928-930)Cct>Tct	p.P310S	GAB1_uc003ije.3_Missense_Mutation_p.P310S|GAB1_uc011chq.2_Missense_Mutation_p.P207S	NM_207123	NP_997006	Q13480	GAB1_HUMAN	Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA.	310					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TTATGACATTCCTCCAACACC	0.413000														84			31		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23236971	23236971	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:23236971C>T	uc009vqj.1	+	13	2744	c.2599C>T	c.(2599-2601)Cgc>Tgc	p.R867C	EPHB2_uc001bge.3_Missense_Mutation_p.R868C|EPHB2_uc001bgf.3_Missense_Mutation_p.R867C|EPHB2_uc010odu.2_Missense_Mutation_p.R809C	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	867	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCAGAAGGACCGCAACCACCG	0.587000														68			28		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179383	55179383	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55179383C>T	uc002qgp.3	+	11	1622	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	LILRB4_uc002qgq.3_Silent_p.L419L|LILRB4_uc010ert.3_Silent_p.L461L|LILRB4_uc010eru.3_Silent_p.L450L	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.	420						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)		GCTTTACCCTCAGACAGAAGG	0.627000														120			28		0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131670757	131670757	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131670757C>T	uc004bwl.4	+	2	1568	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	LRRC8A_uc010myp.3_Silent_p.I438I|LRRC8A_uc010myq.3_Silent_p.I438I	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	438					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TCAGTGGCATCCCTGACACTG	0.612000														26			9		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460299	107460299	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:107460299G>A	uc002tdq.3	-	1	254	c.135C>T	c.(133-135)ttC>ttT	p.F45F	ST6GAL2_uc002tdr.3_Silent_p.F45F|ST6GAL2_uc002tds.3_Silent_p.F45F	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	45					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGGTCTCCAGGAAGGAGAGGG	0.632000														47			4		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331666	70331666	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70331666G>A	uc001oqc.3	-	20	4646	c.4534C>T	c.(4534-4536)Ccc>Tcc	p.P1512S	SHANK2_uc010rqn.2_Missense_Mutation_p.P988S|SHANK2_uc001opz.3_Missense_Mutation_p.P983S|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1199					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			gcgggcggggggATAACAAAG	0.572000														102			77		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94983447	94983448	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:94983447_94983448CC>TT	uc002btj.3	+	16	2193_2194	c.2128_2129CC>TT	c.(2128-2130)ccc>TTc	p.P710F	MCTP2_uc010boj.3_Missense_Mutation_p.P439F|MCTP2_uc010bok.3_Intron|MCTP2_uc002btl.3_Missense_Mutation_p.P298F	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	710					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATATATGATCCCCTTGGCATTG	0.416000														355			47		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524919	10524919	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:10524919C>T	uc002czw.3	+	1	601	c.442C>T	c.(442-444)Cag>Tag	p.Q148*	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Nonsense_Mutation_p.Q148*|ATF7IP2_uc002czv.3_Nonsense_Mutation_p.Q148*|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TTCTGAGCATCAGACAAATGT	0.448000														127			23		0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113999622	113999622	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113999622G>A	uc010yxt.2	-	5	730	c.564C>T	c.(562-564)atC>atT	p.I188I	PAX8_uc010yxu.2_Silent_p.I188I|PAX8_uc002tjm.3_Silent_p.I188I|PAX8_uc002tjn.3_Silent_p.I188I|PAX8_uc010fku.1_Silent_p.I188I|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	188					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CAGGCTGAGCGATGCCCAGGA	0.617000			T	PPARG	follicular thyroid		Thyroid dysgenesis							19			9		0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100488880	100488880	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100488880C>T	uc003uxd.3	-	2	1789	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N	UFSP1_uc003uxc.4_5'Flank|ACHE_uc003uxe.3_Missense_Mutation_p.D545N|ACHE_uc003uxf.3_Missense_Mutation_p.D545N|ACHE_uc003uxg.3_Missense_Mutation_p.D545N|ACHE_uc003uxh.3_Missense_Mutation_p.D457N|ACHE_uc003uxi.3_Missense_Mutation_p.D545N	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	545					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GGCCGCAGGTCCAGACTAACG	0.687000														33			18		0	0	1	0	0
UBL4B	164153	broad.mit.edu	37	1	110655414	110655414	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110655414G>A	uc001dzc.3	+	0	353	c.258G>A	c.(256-258)caG>caA	p.Q86Q		NM_203412	NP_981957	Q8N7F7	UBL4B_HUMAN	Homo sapiens ubiquitin-like 4B (UBL4B), mRNA.	86						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		ACCAGCCGCAGACCCAGCCCC	0.582000														110			21		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531165	92531165	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92531165C>T	uc001pdj.4	+	8	5003	c.4986C>T	c.(4984-4986)acC>acT	p.T1662T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1662	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTCCGTCACCATGTCTGACA	0.448000										TCGA Ovarian(4;0.039)				58			33		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149502526	149502526	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149502526C>T	uc010lpk.3	+	56	8330	c.8330C>T	c.(8329-8331)tCc>tTc	p.S2777F		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2780	TSP type-1 7.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGGACTTCCTGGTCCTCC	0.667000														42			27		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38968413	38968413	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38968413G>A	uc021wvy.1	-	3	697	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	166					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAATCCCAGTGAAGACACACC	0.353000														127			11		0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113352931	113352931	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:113352931C>T	uc003ian.4	+	10	2455	c.2228C>T	c.(2227-2229)gCc>gTc	p.A743V	ALPK1_uc003iap.4_Missense_Mutation_p.A743V|ALPK1_uc011cfx.2_Missense_Mutation_p.A665V|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.A571V	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	743							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AAAGAAGAAGCCTTTGAAATA	0.468000														71			27		0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686769	54686769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54686769C>T	uc009znk.3	-	1	1021	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	NFE2_uc001sfq.3_Missense_Mutation_p.E171K|NFE2_uc001sfr.4_Missense_Mutation_p.E171K|NFE2_uc009znl.3_Missense_Mutation_p.E171K	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	171	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TCTACATATTCGCTGCGCCGC	0.562000														104			16		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19656465	19656465	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19656465G>A	uc002nmw.4	+	7	3214	c.3129G>A	c.(3127-3129)ccG>ccA	p.P1043P	CILP2_uc002nmv.4_Silent_p.P1037P	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	1037						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACCCCCCACCGGTGCCCGCGG	0.667000														16			5		0	0	1	0	0
PDIK1L	149420	broad.mit.edu	37	1	26440953	26440953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26440953C>T	uc010oew.2	+	1	427	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C	PDIK1L_uc001blj.4_Missense_Mutation_p.R52C|PDIK1L_uc009vsb.3_Missense_Mutation_p.R52C	NM_001243532	NP_001230461	Q8N165	PDK1L_HUMAN	Homo sapiens PDLIM1 interacting kinase 1 like (PDIK1L), transcript variant 2, mRNA.	52	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		ACTAGCCCTTCGTGAGTTCTG	0.458000														34			10		0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762076	23762076	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:23762076C>T	uc003zpu.3	-	1	432	c.157G>A	c.(157-159)Gag>Aag	p.E53K	ELAVL2_uc003zps.3_Missense_Mutation_p.E53K|ELAVL2_uc003zpt.3_Missense_Mutation_p.E53K|ELAVL2_uc003zpv.3_Missense_Mutation_p.E53K|ELAVL2_uc003zpw.3_Missense_Mutation_p.E53K	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	53	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TTTAGTTCCTCCTGTGTCATG	0.398000														112			19		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106478263	106478263	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106478263C>T	uc021ser.1	-	2451		c.42810G>A								Parts of antibodies, mostly variable regions.																		GCCCAATCCACTCCAGTCCCT	0.577000														59			13		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29122786	29122786	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29122786G>A	uc002kwu.4	+	13	2493	c.2305G>A	c.(2305-2307)Gaa>Aaa	p.E769K	LOC100652770_uc002kwv.4_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	769					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGCACTGAACGAAGAATTCTT	0.478000														72			23		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018542	62018542	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62018542G>A	uc002jds.1	-	23	5177	c.5100C>T	c.(5098-5100)acC>acT	p.T1700T		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1700					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T1700T(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCTCCTCCATGGTCTGCTTGA	0.587000														66			22		0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33234287	33234287	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:33234287C>T	uc001bvu.1	+	3	541	c.497C>T	c.(496-498)tCc>tTc	p.S166F	KIAA1522_uc010ohm.1_Missense_Mutation_p.S118F|KIAA1522_uc001bvv.2_Missense_Mutation_p.S107F|KIAA1522_uc010ohn.1_Missense_Mutation_p.S107F	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	107										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GACAACATCTCCTTCTGCAGT	0.562000														55			13		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20999045	20999045	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20999045C>T	uc010vbe.2	-	45	6852	c.6852G>A	c.(6850-6852)ggG>ggA	p.G2284G	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2284	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAGCAGGACCCCTTGAATCA	0.453000														46			12		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238049074	238049074	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:238049074C>T	uc001hym.3	-	6	1239	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	318	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)			ATCTGAAGTTCCAGAGTGAGG	0.502000														48			8		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43804268	43804268	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:43804268G>A	uc002rsw.4	-	9	1282	c.930C>T	c.(928-930)ctC>ctT	p.L310L	THADA_uc002rsx.4_Silent_p.L310L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_5'Flank|THADA_uc002rsz.3_Silent_p.L20L|THADA_uc002rta.2_Silent_p.L20L|THADA_uc002rtb.1_Silent_p.L310L|THADA_uc002rtc.4_Silent_p.L310L|THADA_uc002rtd.3_Silent_p.L310L	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	310							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCCCCTGACAGAGGAATAAGA	0.542000											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			6		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14533190	14533190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:14533190G>A	uc010dln.3	-	4	1379	c.925C>T	c.(925-927)Ctc>Ttc	p.L309F	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	309										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCAAGTATGAGGGCAGTTCTA	0.343000														97			28		0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183888410	183888410	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183888410C>T	uc003fms.3	+	14	2158	c.2018C>T	c.(2017-2019)cCc>cTc	p.P673L	DVL3_uc011bqw.2_Missense_Mutation_p.P656L|DVL3_uc003fmt.3_Missense_Mutation_p.P344L|DVL3_uc003fmu.3_Missense_Mutation_p.P505L	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	673					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCCCCGCCGCCCGCGGCCATG	0.726000														20			15		0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153279643	153279643	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153279643G>A	uc001fbn.1	-	1	209	c.156C>T	c.(154-156)ctC>ctT	p.L52L		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	52					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCATCCCTGGGAGCTGGTCTG	0.632000														8			6		0	0	1	0	0
SPATA4	132851	broad.mit.edu	37	4	177114160	177114160	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:177114160C>T	uc003iuo.1	-	2	525	c.416G>A	c.(415-417)gGa>gAa	p.G139E		NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN	Homo sapiens spermatogenesis associated 4 (SPATA4), mRNA.	139					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TTCAGGCACTCCAGCTTTACA	0.284000														38			17		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67124879	67124879	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:67124879G>A	uc002jhw.1	-	7	1175	c.1000C>T	c.(1000-1002)Ctc>Ttc	p.L334F		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	334					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGGGTAAGGAGAAACACAACC	0.408000														117			25		0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78432425	78432425	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:78432425G>A	uc001dii.3	-	6	515	c.426C>T	c.(424-426)ggC>ggT	p.G142G	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Silent_p.G163G	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	142	KH 1.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTTCTGGAAGGCCACCACTGT	0.323000			"""F, N"""		oligodendroglioma									43			20		0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17757553	17757553	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17757553G>A	uc009yhc.1	+	0	59	c.4G>A	c.(4-6)Ggc>Agc	p.G2S	KCNC1_uc001mnk.4_Missense_Mutation_p.G2S	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	2						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CGCCGCGATGGGCCAAGGGGA	0.761000														8			7		0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45557701	45557701	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:45557701C>T	uc003cop.1	+	16	2162	c.1977C>T	c.(1975-1977)atC>atT	p.I659I	LARS2_uc010hit.1_Silent_p.I616I	NM_015340	NP_056155	Q15031	SYLM_HUMAN	Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA.	659					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGTATGGGATCGACACGATTC	0.483000														99			42		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76464930	76464930	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76464930C>T	uc010dhp.2	-	54	8672	c.8547G>A	c.(8545-8547)gtG>gtA	p.V2849V	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAACGTTCTTCACGGCAGCCT	0.542000														49			20		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52496389	52496389	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:52496389C>T	uc001wzo.3	-	9	2511	c.2277G>A	c.(2275-2277)ccG>ccA	p.P759P	NID2_uc010tqs.2_Silent_p.P759P|NID2_uc010tqt.1_Silent_p.P759P|NID2_uc001wzp.3_Silent_p.P759P	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	759	EGF-like 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AAGGATTCCCCGGAGTGGGGT	0.517000														40			8		0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5655066	5655066	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5655066G>A	uc001mbh.3	+	2	613	c.456G>A	c.(454-456)aaG>aaA	p.K152K	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Silent_p.K506K|TRIM6-TRIM34_uc001mbi.3_Silent_p.K152K|TRIM6-TRIM34_uc001mbj.3_Silent_p.K152K	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	506						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AGAGGCTGAAGAAGGAAGAGG	0.453000														53			9		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54901636	54901636	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54901636G>A	uc001sgc.4	+	4	386	c.307_splice	c.e4-1	p.D103_splice	NCKAP1L_uc010sox.2_Splice_Site|NCKAP1L_uc010soy.2_Splice_Site_p.D53_splice	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	103					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCCACCCCCAGGATCATGTAT	0.413000														163			51		0	0	1	0	0
PSMD9	5715	broad.mit.edu	37	12	122353804	122353804	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:122353804C>T	uc001ubl.3	+	4	715	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	WDR66_uc009zxk.3_5'Flank|PSMD9_uc009zxj.3_Non-coding_Transcript|WDR66_uc021rfh.1_5'Flank	NM_002813	NP_002804	O00233	PSMD9_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 (PSMD9), mRNA.	200					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GGAAAAACACCAGCTTAGACT	0.468000														27			4		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559123	140559123	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140559123C>T	uc011dai.2	+	0	1753	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	503	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCGCCTCCCTGGTCTCC	0.667000														314			59		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75831063	75831063	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:75831063G>A	uc021zbv.1	-	42	7076	c.7041C>T	c.(7039-7041)ttC>ttT	p.F2347F	COL12A1_uc021zbw.1_Silent_p.F1183F|COL12A1_uc003phs.3_Silent_p.F2347F|COL12A1_uc003pht.3_Silent_p.F1183F	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2347	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCACAGTATTGAAGATGAATT	0.438000														78			12		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8621299	8621299	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:8621299C>T	uc003glm.3	+	10	2088	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.F627F|CPZ_uc003gln.3_Silent_p.F501F	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	638					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGTCCTACTTCACATCGCTGA	0.701000														33			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9014585	9014585	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9014585C>T	uc002mkp.3	-	30	38594	c.38390G>A	c.(38389-38391)gGc>gAc	p.G12797D	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12799	SEA 5.			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						CTCTTTGATGCCATTGGTCAG	0.557000														181			47		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167645876	167645876	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:167645876C>T	uc010jjd.3	+	22	4953	c.4953C>T	c.(4951-4953)acC>acT	p.T1651T	ODZ2_uc003lzr.4_Silent_p.T1421T|ODZ2_uc003lzt.4_Silent_p.T1024T|ODZ2_uc010jje.3_Silent_p.T915T	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)		TCACCCTCACCGTGGGCACCA	0.552000														141			29		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74013916	74013916	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74013916C>T	uc010wss.1	-	13	1908	c.1680G>A	c.(1678-1680)ctG>ctA	p.L560L	EVPL_uc002jqi.2_Silent_p.L538L|EVPL_uc010wst.1_Silent_p.L8L	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	538	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTATCTGTCCCAGGTCTCCAT	0.672000														53			21		0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84257443	84257443	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:84257443G>A	uc002bjw.3	+	7	953	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	SH3GL3_uc010uot.1_Missense_Mutation_p.R253Q|SH3GL3_uc002bjx.3_Missense_Mutation_p.R184Q|SH3GL3_uc002bju.3_Missense_Mutation_p.R261Q|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	253	Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GTCCCCAGACGAGAATACAAG	0.458000														79			14		0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751374	26751374	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:26751374C>T	uc003cdp.3	+	1	800	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	LRRC3B_uc003cdq.3_Silent_p.L71L|LRRC3B_uc021wuj.1_Silent_p.L71L	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	71						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CTTACTGTATCTGGACTCCAA	0.403000														49			16		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404228	197404228	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197404228G>A	uc001gtz.3	+	8	3444	c.3235G>A	c.(3235-3237)Gat>Aat	p.D1079N	CRB1_uc010poz.2_Missense_Mutation_p.D1055N|CRB1_uc009wza.3_Missense_Mutation_p.D967N|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.D560N|CRB1_uc001gub.1_Missense_Mutation_p.D728N	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1079	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGATAATACAGATATTTATGT	0.418000														109			19		0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58189862	58189862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:58189862C>T	uc010rkg.2	-	0	925	c.873G>A	c.(871-873)agG>agA	p.R291R		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTTCTCTGTTCCTCAGGCTGT	0.418000														62			32		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060477	54060477	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:54060477G>A	uc001cvr.1	-	2	666	c.99C>T	c.(97-99)acC>acT	p.T33T		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	33					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AAGGCGCAGGGGTGGCGAGGC	0.721000														21			3		0	0	1	0	0
IL28RA	163702	broad.mit.edu	37	1	24483700	24483700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24483700C>T	uc001bis.3	-	6	1510	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N	IL28RA_uc001bir.3_Missense_Mutation_p.D466N|IL28RA_uc001bit.3_3'UTR|IL28RA_uc001biu.3_Missense_Mutation_p.D411N	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.	495					cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4)	16		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		CTGCCCGCATCGCTGTCCTCA	0.627000														57			11		0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031521	56031521	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56031521C>T	uc010spq.2	+	0	846	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						ACACAGTCATCACACCCATGC	0.582000														69			17		0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127768553	127768553	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:127768553C>T	uc011ebs.2	-	4	1247	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	KIAA0408_uc003qbc.3_Missense_Mutation_p.R304Q|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_5'Flank|KIAA0408_uc003qbb.3_Missense_Mutation_p.R187Q	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	304							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CCTTTTACTTCGACCCTCATG	0.433000														40			53		0	0	1	0	0
LOC100288778	100288778	broad.mit.edu	37	12	90925	90925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:90925C>T	uc010scy.2	+	9	1346	c.791C>T	c.(790-792)tCc>tTc	p.S264F	LOC100288778_uc010scz.2_Non-coding_Transcript|LOC100288778_uc010sdd.2_3'UTR|LOC100288778_uc010sde.2_Missense_Mutation_p.S264F|LOC100288778_uc010sdf.2_Missense_Mutation_p.S264F|LOC100288778_uc010sdg.2_Missense_Mutation_p.S264F|LOC100288778_uc010sdh.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 1 pseudogene (LOC100288778), non-coding RNA.																		GACTGGGAATCCTAGGGGGCT	0.647000														31			9		0	0	1	0	0
abParts	0	broad.mit.edu	37	15	22473075	22473075	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22473075C>T	uc001yuj.2	-	6		c.253G>A								Parts of antibodies, mostly variable regions.																		CCAATCCACTCCAGCCCCTTC	0.572000														233			26		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64447723	64447723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:64447723G>A	uc003jtp.3	-	24	4108	c.3294C>T	c.(3292-3294)ttC>ttT	p.F1098F	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	1098	PLAC.				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)		TGCAGAACTTGAACTTCAGCA	0.443000														114			19		0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103866850	103866850	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:103866850G>A	uc001phq.3	-	2	825	c.453C>T	c.(451-453)ttC>ttT	p.F151F	PDGFD_uc001php.3_Silent_p.F145F	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	151	CUB.				positive regulation of cell division	Golgi membrane|endoplasmic reticulum lumen|extracellular region	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CATCGGACTTGAATGTGATTT	0.368000														121			8		0	0	1	0	0
THAP4	51078	broad.mit.edu	37	2	242573389	242573389	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242573389G>A	uc002wbt.3	-	1	476	c.183C>T	c.(181-183)acC>acT	p.T61T		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	61							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		AGCTGTCTTTGGTGAAATGCT	0.512000														133			65		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42482862	42482862	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42482862G>A	uc002osh.3	-	11	1680	c.1526C>T	c.(1525-1527)tCc>tTc	p.S509F	ATP1A3_uc010xwf.2_Missense_Mutation_p.S520F|ATP1A3_uc010xwg.2_Missense_Mutation_p.S479F|ATP1A3_uc002osg.3_Missense_Mutation_p.S509F|ATP1A3_uc010xwh.2_Missense_Mutation_p.S522F			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	509					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CAGGATGGTGGAGCAGCGGTC	0.627000														86			43		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128342354	128342354	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:128342354G>A	uc002top.3	+	14	1608	c.1555_splice	c.e14-1	p.G519_splice		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	519	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TTCTTCCAGGGGACAGATCTC	0.567000														65			31		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416200	86416200	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:86416200G>A	uc003uid.3	+	2	2191	c.1092G>A	c.(1090-1092)caG>caA	p.Q364Q	GRM3_uc010lef.3_Silent_p.Q362Q|GRM3_uc010leg.3_Silent_p.Q236Q|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	364					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)	GCAGCCTCCAGAACAAACGCA	0.567000														43			20		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	166958637	166958637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:166958637C>T	uc011bpc.2	-	21	2801	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	ZBBX_uc003feq.3_Missense_Mutation_p.E754K|ZBBX_uc003fep.3_Missense_Mutation_p.E783K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	783						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AGAAAATCTTCCTCCTCCTCA	0.368000														81			38		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171055856	171055856	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:171055856G>A	uc002ufy.3	+	1	284	c.141G>A	c.(139-141)aaG>aaA	p.K47K	MYO3B_uc002ufv.3_Silent_p.K34K|MYO3B_uc010fqb.1_Silent_p.K47K|MYO3B_uc002ufz.3_Silent_p.K47K|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Silent_p.K34K	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	47	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity	p.K47fs*16(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TAACTAACAAGAGAGATGGGA	0.418000														48			9		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101868335	101868335	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:101868335G>A	uc001pgm.3	+	10	3585	c.3315G>A	c.(3313-3315)aaG>aaA	p.K1105K	KIAA1377_uc001pgn.3_Silent_p.K1061K|KIAA1377_uc010run.2_Silent_p.K906K	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	1105							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TCCAGGAGAAGAGAGAAGATA	0.428000														78			7		0	0	1	0	0
CD48	962	broad.mit.edu	37	1	160648910	160648910	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160648910C>T	uc001fwn.3	-	3	696	c.664G>A	c.(664-666)Gga>Aga	p.G222R		NM_001778	NP_001769	P09326	CD48_HUMAN	Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.	222					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CATTCTACTCCAAAGGACCGG	0.453000														48			17		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60069930	60069930	+	Splice_Site	SNP	C	T	T	rs11559108		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:60069930C>T	uc001xen.1	-	7	2438	c.2229_splice	c.e7+1	p.Q743_splice	RTN1_uc001xem.1_Splice_Site_p.Q323_splice|RTN1_uc001xek.2_Splice_Site_p.Q175_splice|RTN1_uc010apl.2_Splice_Site_p.Q160_splice	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	743	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.Q743H(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TAGAACTTACCTGGTGCTTAA	0.318000														42			20		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432511	140432511	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140432511C>T	uc003lik.1	+	0	1533	c.1456C>T	c.(1456-1458)Caa>Taa	p.Q486*		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	486	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGAATGCCCAAATAACATA	0.423000														55			13		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47921602	47921602	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:47921602G>A	uc003tny.2	-	19	3381	c.3347C>T	c.(3346-3348)cCc>cTc	p.P1116L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1116	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGACAGGGAGGGGTCCACCAG	0.567000														62			23		0	0	1	0	0
RNASE3	6037	broad.mit.edu	37	14	21359902	21359902	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21359902G>A	uc021roq.1	+	0	57	c.57G>A	c.(55-57)atG>atA	p.M19I	RNASE3_uc001vyj.3_Missense_Mutation_p.M19I	NM_002935	NP_002926	P12724	ECP_HUMAN	Homo sapiens ribonuclease, RNase A family, 3 (RNASE3), mRNA.	19					RNA catabolic process|defense response to bacterium	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TGGGGCTTATGGGTGTGGAGG	0.512000														149			66		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121061450	121061450	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121061450C>T	uc010rzo.2	+	22	6403	c.6403C>T	c.(6403-6405)Ctt>Ttt	p.L2135F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	2135					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.L2135delL(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGTCTGGACGCTTCTTCTCAT	0.383000														32			15		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82034431	82034431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:82034431G>A	uc002fgu.3	-	1	161	c.33C>T	c.(31-33)gtC>gtT	p.V11V		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	11					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CTGTAATGAGGACACTTTCCT	0.378000														54			15		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78380676	78380676	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:78380676C>T	uc001ozl.4	-	31	7177	c.6714G>A	c.(6712-6714)cgG>cgA	p.R2238R	ODZ4_uc001ozk.4_Silent_p.R463R	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2238					signal transduction	integral to membrane		p.R2238L(1)		breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GGATGTCATACCGTAGTGGTG	0.557000														109			62		0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	422388	422388	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:422388G>A	uc002loq.4	-	10	1378	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S		NM_012435	NP_036567	P98077	SHC2_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 2 (SHC2), mRNA.	460	CH1.				Ras protein signal transduction|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TCCTCCAAGGGAAGAGGGGCT	0.687000														10			6		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77671544	77671544	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:77671544C>T	uc011bgk.2	+	23	4376	c.3733C>T	c.(3733-3735)Cct>Tct	p.P1245S	ROBO2_uc021xat.1_Missense_Mutation_p.P1257S|ROBO2_uc003dpy.4_Missense_Mutation_p.P1241S|ROBO2_uc003dpz.3_Missense_Mutation_p.P1245S|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1241					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGACCAGACTCCTGGATCCAG	0.448000														43			19		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50329519	50329519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:50329519C>T	uc002xwg.1	-	3	422	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	ATP9A_uc010gih.1_Missense_Mutation_p.R126Q	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	141					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGCTGTGAGCCGGCTGTAGAC	0.637000											OREG0026044	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			6		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57372396	57372396	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57372396G>A	uc001cyo.2	+	7	1285	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	385	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CATTCAATATGAAGACAAAAT	0.388000														124			73		0	0	1	0	0
CYP21A2	1589	broad.mit.edu	37	6	32008204	32008204	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32008204G>A	uc003nze.2	+	7	1068	c.961G>A	c.(961-963)Gag>Aag	p.E321K	CYP21A2_uc003nzf.2_Missense_Mutation_p.E291K	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	320					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						ACTGCAGGAGGAGCTAGACCA	0.662000														38			13		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160016608	160016608	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:160016608C>T	uc003lym.1	-	23	4588	c.3741G>A	c.(3739-3741)atG>atA	p.M1247I	ATP10B_uc010jit.1_Missense_Mutation_p.M497I	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	1247					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(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCATGTCTTCATTTCCATTG	0.443000														52			7		0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109411018	109411018	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:109411018C>T	uc002ten.1	+	4	477	c.417C>T	c.(415-417)acC>acT	p.T139T	CCDC138_uc002teo.1_Silent_p.T139T|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.	139										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CTAATACGACCTCATCGAGAC	0.388000														75			29		0	0	1	0	0
LOC389705	389705	broad.mit.edu	37	9	15001633	15001633	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:15001633G>A	uc010mid.1	+	3		c.412_splice	c.e3-1		AK127963_uc003zln.1_Intron					Homo sapiens chromosome 4 open reading frame 27 pseudogene (LOC389705), non-coding RNA.																		CTCAAACAGGGATTCTCCTGA	0.318000														68			39		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124050683	124050683	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124050683C>T	uc001lgc.1	+	6	815	c.564C>T	c.(562-564)atC>atT	p.I188I	BTBD16_uc001lgd.1_Silent_p.I187I	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	188	BTB.									breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCGCCCACATCCTCCAGTTCA	0.577000														86			32		0	0	1	0	0
PODXL2	50512	broad.mit.edu	37	3	127379289	127379290	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:127379289_127379290CC>TT	uc003ejq.2	+	2	442_443	c.418_419CC>TT	c.(418-420)cca>TTa	p.P140L		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	Homo sapiens podocalyxin-like 2 (PODXL2), mRNA.	140					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						TCAAGAGCTGCCAAACCTCCCC	0.500000														64			13		0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39717177	39717177	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:39717177C>T	uc001wux.3	+	3	1593	c.1399C>T	c.(1399-1401)Cct>Tct	p.P467S	MIA2_uc010amy.2_Missense_Mutation_p.P398S	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	467						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TTTTGACAACCCTTGGAACTT	0.323000														83			40		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106121808	106121808	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106121808G>A	uc001kyh.3	+	2	453	c.319G>A	c.(319-321)Gac>Aac	p.D107N		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	107										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAAGATGGTGGACTCAGCCTA	0.458000														49			17		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33466326	33466326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:33466326G>A	uc003zsz.3	-	16	2290	c.2189C>T	c.(2188-2190)gCc>gTc	p.A730V	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Missense_Mutation_p.A727V|NOL6_uc011lob.2_Missense_Mutation_p.A678V|NOL6_uc003ztb.1_Missense_Mutation_p.A730V	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	730					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CTCCACGTAGGCCGGACAGGG	0.612000											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		97			27		0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36459857	36459857	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:36459857G>A	uc003tff.3	+	10	2153	c.1949G>A	c.(1948-1950)aGa>aAa	p.R650K	ANLN_uc011kaz.2_Missense_Mutation_p.R562K|ANLN_uc003tfg.3_Missense_Mutation_p.R613K|ANLN_uc010kxe.3_Missense_Mutation_p.R612K	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	650	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	p.Q649R(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AAATTCCAAAGAACTCGTGTC	0.433000														82			27		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52619652	52619652	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:52619652C>T	uc001jjj.3	-	2	237	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	A1CF_uc010qho.2_5'UTR|A1CF_uc010qhn.2_5'UTR|A1CF_uc009xov.3_Missense_Mutation_p.E17K|A1CF_uc001jji.3_Missense_Mutation_p.E17K|A1CF_uc001jjh.3_5'UTR|A1CF_uc001jjk.1_Missense_Mutation_p.E17K	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	17					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E17D(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AGGGCTGCTTCCTTCTGAGTG	0.483000														54			36		0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1389508	1389508	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1389508C>T	uc002clk.2	+	4	575	c.417C>T	c.(415-417)ctC>ctT	p.L139L	BAIAP3_uc010uuz.2_Silent_p.L104L|BAIAP3_uc010uva.2_Intron|BAIAP3_uc021tag.1_Intron|BAIAP3_uc002clj.3_Silent_p.L121L|BAIAP3_uc010uvb.2_Silent_p.L156L|BAIAP3_uc010uvc.1_Silent_p.L104L	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	139					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGGAGATGCTCTACGAGGAGG	0.682000														13			7		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038981	75038981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75038981G>A	uc001dgg.3	-	13	2632	c.2413C>T	c.(2413-2415)Cat>Tat	p.H805Y		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	805	Glu-rich.									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						GGAGCCTCATGAACAGCTCCT	0.537000														123			47		0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123264747	123264747	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:123264747C>T	uc003vku.1	+	7	868	c.576C>T	c.(574-576)atC>atT	p.I192I	ASB15_uc003vkv.1_Silent_p.I192I|ASB15_uc003vkw.1_Silent_p.I192I	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	192					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAAAAGATATCGTAGCTCTGC	0.517000											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		84			23		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75740713	75740713	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75740713C>T	uc010oqz.1	-	4	373	c.307G>A	c.(307-309)Gac>Aac	p.D103N	SLC44A5_uc001dgt.2_Missense_Mutation_p.D64N|SLC44A5_uc001dgs.2_Missense_Mutation_p.D22N|SLC44A5_uc001dgr.2_Missense_Mutation_p.D22N|SLC44A5_uc001dgu.3_Missense_Mutation_p.D64N|SLC44A5_uc010ora.2_Missense_Mutation_p.D58N|SLC44A5_uc010orb.2_Intron	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	64						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.P103S(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CTTCTGGGGTCCCCATGTACC	0.493000														27			5		0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89524656	89524656	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:89524656C>T	uc001dmx.2	-	4	719	c.499G>A	c.(499-501)Gat>Aat	p.D167N		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	167					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TCAGCTGAATCCTCAACCTCA	0.453000														74			40		0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	6023659	6023659	+	Missense_Mutation	SNP	C	T	T	rs148765035		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:6023659C>T	uc010cli.3	+	8	1785	c.1406C>T	c.(1405-1407)tCg>tTg	p.S469L	WSCD1_uc002gcn.3_Missense_Mutation_p.S469L|WSCD1_uc002gco.3_Missense_Mutation_p.S469L|WSCD1_uc010clj.3_Missense_Mutation_p.S160L	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	469						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						AGCTACGCCTCGTGGTGGTCC	0.672000														80			55		0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46704372	46704372	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:46704372C>T	uc011aqy.2	+	3	506	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GTSE1_uc011aqz.2_5'UTR	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	79					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GGGAGAAGTTCGTGGAGGTGT	0.567000														151			55		0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121304974	121304974	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121304974C>T	uc003eef.3	+	4	570	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	159						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GCCCACCTCCCCCAGAACATC	0.493000														85			52		0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237944	56237944	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56237944G>A	uc010rjk.2	-	0	71	c.30C>T	c.(28-30)ttC>ttT	p.F10F	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CCAAAAGAATGAACTCTGTCA	0.363000														67			18		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161292786	161292786	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:161292786C>T	uc010jiw.3	+	4	715	c.247C>T	c.(247-249)Cat>Tat	p.H83Y	GABRA1_uc010jix.3_Missense_Mutation_p.H83Y|GABRA1_uc010jiy.3_Missense_Mutation_p.H83Y|GABRA1_uc003lyx.4_Missense_Mutation_p.H83Y|GABRA1_uc010jiz.3_Missense_Mutation_p.H83Y|GABRA1_uc010jja.3_Missense_Mutation_p.H83Y|GABRA1_uc010jjb.3_Missense_Mutation_p.H83Y	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	83					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CGTTTCAGACCATGATATGGT	0.388000														136			52		0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37453613	37453613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:37453613G>A	uc001uvw.3	-	1	557	c.214C>T	c.(214-216)Ccc>Tcc	p.P72S	SMAD9_uc001uvx.3_Missense_Mutation_p.P72S|SMAD9_uc010tep.2_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	72	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGGGAGCGGGGAATCGTGACG	0.627000														64			14		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857389	9857389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:9857389C>T	uc010uym.2	-	13	4322	c.4012G>A	c.(4012-4014)Ggg>Agg	p.G1338R	GRIN2A_uc002czo.4_Missense_Mutation_p.G1338R|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1338					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTTTTTTTCCCCGAGAGTTTG	0.547000														83			17		0	0	1	0	0
NOMO2	283820	broad.mit.edu	37	16	18544465	18544465	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:18544465G>A	uc002dfe.3	-	11	1329	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	NOMO2_uc002dff.3_Silent_p.F419F|NOMO2_uc010bvx.3_Silent_p.F252F	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	Homo sapiens NODAL modulator 2 (NOMO2), transcript variant 1, mRNA.	419						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CGGTGTCCGGGAAGCGAATGA	0.453000														154			35		0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033272	41033272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41033272C>T	uc021wjj.1	+	0	786	c.786C>T	c.(784-786)tcC>tcT	p.S262S	B3GALT5_uc002yyb.1_Silent_p.S262S|B3GALT5_uc002yye.2_Silent_p.S262S|B3GALT5_uc002yyi.1_Silent_p.S262S|B3GALT5_uc002yyj.1_Silent_p.S262S|B3GALT5_uc002yyk.1_Silent_p.S262S|B3GALT5_uc002yyl.1_Silent_p.S262S|B3GALT5_uc002yym.1_Silent_p.S262S	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA.	262					protein glycosylation	Golgi membrane|endoplasmic reticulum|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				AGCTCCACTCCCAGCCGACCT	0.532000														96			58		0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113233182	113233182	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113233182C>T	uc001pnv.3	+	18	1797	c.1692C>T	c.(1690-1692)gcC>gcT	p.A564A	TTC12_uc001pnu.3_Silent_p.A558A|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Silent_p.A408A	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	558							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TTGAGGAGGCCTTGCGAGCAG	0.418000														70			33		0	0	1	0	0
IL13	3596	broad.mit.edu	37	5	131995954	131995954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:131995954C>T	uc003kxj.1	+	3	435	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C		NM_002188	NP_002179	P35225	IL13_HUMAN	Homo sapiens interleukin 13 (IL13), mRNA.	141					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAACTTTTTCGCGAGGGACA	0.418000														60			18		0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	78458888	78458888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:78458888C>T	uc002ffk.3	+	6	1076	c.727C>T	c.(727-729)Ctc>Ttc	p.L243F	WWOX_uc002ffl.3_Intron|WWOX_uc010che.3_Intron|WWOX_uc010vnk.2_Missense_Mutation_p.L130F	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	Homo sapiens WW domain containing oxidoreductase (WWOX), transcript variant 1, mRNA.	243	Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).				Wnt receptor signaling pathway|apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TGTCCAGCTCCTCCAGGATGT	0.517000														159			53		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566086	5566086	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5566086G>A	uc010qzh.2	-	0	668	c.668C>T	c.(667-669)gCt>gTt	p.A223V	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTAGGAAACAGCAATGAGAAT	0.507000														41			21		0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89653510	89653510	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89653510C>T	uc002fnp.3	+	11	1282	c.1152_splice	c.e11+1	p.T384_splice	CPNE7_uc002fnq.3_Splice_Site_p.T309_splice	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	384	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TCCACTTCACCGTGAGTCCAT	0.721000														2			4		0	0	1	0	0
TMEM184A	202915	broad.mit.edu	37	7	1587388	1587388	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:1587388C>T	uc003skv.4	-	7	1319	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E	TMEM184A_uc003skt.4_Silent_p.E313E|TMEM184A_uc021zyr.1_Silent_p.E139E	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	334						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTGGTGAATTCTCCTTCTTCT	0.637000														22			6		0	0	1	0	0
QPRT	23475	broad.mit.edu	37	16	29706093	29706093	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:29706093C>T	uc002dto.3	+	1	200	c.122C>T	c.(121-123)cCc>cTc	p.P41L	BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.2_Intron	NM_014298	NP_055113	Q15274	NADC_HUMAN	Homo sapiens quinolinate phosphoribosyltransferase (QPRT), mRNA.	41					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	GGGGCAGGCCCCTCGCAGGCG	0.652000														73			19		0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715464	92715464	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92715464G>A	uc001pdk.1	+	1	1178	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	359					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.Q358E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GCAGCACCAGGCAGATGCTCT	0.592000														42			20		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50895042	50895042	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50895042G>A	uc003blh.3	-	29	4160	c.3965C>T	c.(3964-3966)tCc>tTc	p.S1322F	SBF1_uc003ble.3_5'Flank|SBF1_uc011arx.2_Missense_Mutation_p.S960F	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1296	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AGCTAGCCGGGAGCCCACATC	0.677000														16			6		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12978676	12978676	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12978676C>T	uc002mvm.3	+	19	2579	c.2451C>T	c.(2449-2451)gcC>gcT	p.A817A		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	817					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGGATGAGGCCCGGCTGCGCA	0.731000														18			3		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197298127	197298127	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:197298127C>T	uc002utm.1	-	1	204	c.21G>A	c.(19-21)gaG>gaA	p.E7E		NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	7					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AAAGCAGGTGCTCCCGGGCTG	0.522000														53			21		0	0	1	0	0
GPT2	84706	broad.mit.edu	37	16	46943652	46943652	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:46943652C>T	uc002eel.3	+	5	727	c.633C>T	c.(631-633)atC>atT	p.I211I	GPT2_uc002eem.3_Silent_p.I111I	NM_133443	NP_001135938	Q8TD30	ALAT2_HUMAN	Homo sapiens glutamic pyruvate transaminase (alanine aminotransferase) 2 (GPT2), transcript variant 1, mRNA.	211					2-oxoglutarate metabolic process|L-alanine metabolic process|cellular amino acid biosynthetic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.I211I(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTGTGATGATCCCCATCCCAC	0.537000														73			23		0	0	1	0	0
POLR1E	64425	broad.mit.edu	37	9	37486584	37486584	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:37486584C>T	uc003zzz.1	+	0	435	c.147C>T	c.(145-147)ttC>ttT	p.F49F	POLR1E_uc011lqj.1_Intron|POLR1E_uc003zzy.1_Intron|POLR1E_uc011lqk.1_Intron	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN	Homo sapiens polymerase (RNA) I polypeptide E, 53kDa (POLR1E), mRNA.	49					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		ACCCGAGCTTCCTTGCCATCC	0.582000														11			11		0	0	1	0	0
FAM55A	120400	broad.mit.edu	37	11	114392968	114392968	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:114392968C>T	uc001ppa.3	-	5	1357	c.940G>A	c.(940-942)Ggt>Agt	p.G314S	FAM55A_uc010rxd.2_Missense_Mutation_p.G163S	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.	456						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		TTTTGAACACCGATGGCCCTG	0.438000														142			13		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19634720	19634720	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:19634720C>T	uc002wrl.3	+	6	824	c.627C>T	c.(625-627)tcC>tcT	p.S209S		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	209						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGCTCTTTCCTCCTGGTGCC	0.507000														78			11		0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172504301	172504301	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:172504301C>T	uc003fii.2	+	16	1889	c.1751C>T	c.(1750-1752)gCt>gTt	p.A584V	ECT2_uc010hwv.1_Missense_Mutation_p.A615V|ECT2_uc003fih.2_Missense_Mutation_p.A583V|ECT2_uc003fij.1_Missense_Mutation_p.A584V|ECT2_uc003fik.1_Missense_Mutation_p.A584V|ECT2_uc003fil.1_Missense_Mutation_p.A615V	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	584	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAGCATACAGCTGATGAAAAT	0.318000														38			9		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115973129	115973129	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115973129G>A	uc001lbg.1	+	14	2009	c.1856G>A	c.(1855-1857)tGg>tAg	p.W619*	TDRD1_uc001lbf.3_Nonsense_Mutation_p.W553*|TDRD1_uc001lbh.1_Nonsense_Mutation_p.W610*|TDRD1_uc001lbi.1_Nonsense_Mutation_p.W610*|TDRD1_uc010qsc.2_Nonsense_Mutation_p.W223*|TDRD1_uc001lbj.3_Nonsense_Mutation_p.W328*	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	619					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTAGGAATTTGGACTCCAGAA	0.358000														93			19		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72992610	72992610	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:72992610C>T	uc002fck.3	-	1	2108	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	479	Poly-Glu.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				tcctcctcctcttcttcctcc	0.592000														50			10		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183104895	183104896	+	Missense_Mutation	DNP	CC	TT	TT	rs145482728		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:183104895_183104896CC>TT	uc002uos.3	-	3	423_424	c.339_340GG>AA	c.(337-342)gaggaa>gaAAaa	p.E114K	PDE1A_uc010zfp.1_Missense_Mutation_p.E10K|PDE1A_uc002uoq.1_Missense_Mutation_p.E114K|PDE1A_uc010zfq.1_Missense_Mutation_p.E114K|PDE1A_uc002uor.3_Missense_Mutation_p.E98K|PDE1A_uc002uou.3_Missense_Mutation_p.E80K	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	114					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E114K(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTTGGTTTTTCCTCAGGTTTCT	0.416000														111			31		0	0	1	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021535	46021535	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46021535C>T	uc002zfn.4	+	1	1024	c.999C>T	c.(997-999)tcC>tcT	p.S333S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	338	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCCCCACCTCCTCCTGCCAGG	0.716000														69			22		0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113270348	113270348	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113270348C>T	uc001pny.3	+	7	1751	c.1657C>T	c.(1657-1659)Cct>Tct	p.P553S		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	553							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TGGAGCGGTCCCTGATGCCCT	0.597000														8			6		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76454647	76454647	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76454647C>T	uc010dhp.2	-	62	10102	c.9977_splice	c.e62+1	p.R3326_splice	DNAH17_uc002jvs.3_Splice_Site	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGCTGATACCTGTTCGCCAG	0.562000														76			41		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34851459	34851459	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:34851459G>A	uc003teh.1	+	3	590	c.462G>A	c.(460-462)atG>atA	p.M154I	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.M154I|NPSR1_uc010kwt.1_Missense_Mutation_p.M1I|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Missense_Mutation_p.M154I|NPSR1_uc010kww.1_Missense_Mutation_p.M143I|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	154						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TCTACCCCATGAAGTTCCTTC	0.458000														113			44		0	0	1	0	0
CYS1	192668	broad.mit.edu	37	2	10199021	10199021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:10199021C>T	uc002rag.2	-	2	624	c.436G>A	c.(436-438)Gag>Aag	p.E146K		NM_001037160	NP_001032237	Q717R9	CYS1_HUMAN	Homo sapiens cystin 1 (CYS1), mRNA.	146						cilium axoneme				large_intestine(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.166)|OV - Ovarian serous cystadenocarcinoma(76;0.227)		ATCAGCCCCTCTTCCGAGTGG	0.677000														5			8		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189455532	189455532	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:189455532C>T	uc003fry.2	+	1	155	c.66C>T	c.(64-66)ttC>ttT	p.F22F	TP63_uc003frx.2_Silent_p.F22F|TP63_uc003frz.2_Silent_p.F22F|TP63_uc010hzc.1_Silent_p.F22F	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	22	Transcription activation.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTTTAAGTTTCGTAGAAACCC	0.348000										HNSCC(45;0.13)				96			27		0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123901221	123901221	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123901221C>T	uc001pzp.1	+	0	892	c.892C>T	c.(892-894)Ctg>Ttg	p.L298L		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAAGAAAGCTCTGTTGAAGCT	0.448000														78			39		0	0	1	0	0
ADRA2B	151	broad.mit.edu	37	2	96780804	96780804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:96780804C>T	uc021vlh.1	-	0	1085	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	365				QL -> HV (in Ref. 1 and 2).	activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GCGCTTCTCCCGGGTCAGCTG	0.657000														32			6		0	0	1	0	0
LYSMD1	388695	broad.mit.edu	37	1	151134286	151134286	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151134286G>A	uc001ewy.3	-	1	1107	c.471C>T	c.(469-471)ttC>ttT	p.F157F	SCNM1_uc021oyk.1_Intron|LYSMD1_uc010pcr.2_Silent_p.F109F	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 1 (LYSMD1), transcript variant 1, mRNA.	157					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTTCTTAAGGAAATCAGAGG	0.507000														106			60		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305645	54305645	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54305645G>A	uc021smr.1	+	0	545	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	UNC13C_uc021sms.1_Missense_Mutation_p.R182Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	182					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R182Q(1)		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)		GGAGCTTTACGAAAACTGAGA	0.458000														98			39		0	0	1	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41621801	41621801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:41621801C>T	uc003azo.3	+	11	1414	c.1360C>T	c.(1360-1362)Ctc>Ttc	p.L454F	L3MBTL2_uc010gyi.1_Missense_Mutation_p.L363F|L3MBTL2_uc003azn.3_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA.	454					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCCCCAGGTTCTCCTGGATGG	0.592000														44			16		0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116073768	116073768	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:116073768C>T	uc001lbn.3	-	6	955	c.654G>A	c.(652-654)gtG>gtA	p.V218V	AFAP1L2_uc001lbo.3_Silent_p.V218V|AFAP1L2_uc010qse.2_Silent_p.V271V|AFAP1L2_uc001lbp.3_Silent_p.V246V|AFAP1L2_uc001lbr.1_Silent_p.V218V	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	218	PH 1.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CCAGTAGGTTCACGTCCAGCT	0.552000														57			18		0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148916196	148916196	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:148916196C>T	uc003ewy.4	-	8	1924	c.1671G>A	c.(1669-1671)atG>atA	p.M557I	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.M338I|CP_uc003ewz.3_Missense_Mutation_p.M557I|CP_uc010hvf.1_Missense_Mutation_p.M283I	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	557	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TGCATATTTTCATTGGCCCAA	0.378000														77			31		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63517664	63517664	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63517664C>T	uc001nxq.3	+	3	2919	c.2732C>T	c.(2731-2733)cCa>cTa	p.P911L	RTN3_uc001nxp.3_Missense_Mutation_p.P115L|RTN3_uc009yov.3_Missense_Mutation_p.P799L|RTN3_uc010rmt.2_Non-coding_Transcript|RTN3_uc010rmu.2_Missense_Mutation_p.P115L|RTN3_uc001nxm.3_Missense_Mutation_p.P134L|RTN3_uc001nxn.3_Missense_Mutation_p.P892L|RTN3_uc001nxo.3_Missense_Mutation_p.P115L	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	911	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GAAGGCCATCCATTCAAGTGA	0.428000														17			7		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383057	22383057	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22383057G>A	uc001yuc.1	+	6	1566	c.585G>A	c.(583-585)gtG>gtA	p.V195V	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.V195V	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTTTGTGGTGGAGCTTCTAA	0.527000														66			15		0	0	1	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827047	43827047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43827047G>A	uc001zrw.3	-	30	4331	c.4127C>T	c.(4126-4128)cCt>cTt	p.P1376L	PPIP5K1_uc021sjw.1_Missense_Mutation_p.P1351L|PPIP5K1_uc001zrx.2_Missense_Mutation_p.P1349L|PPIP5K1_uc001zry.4_Missense_Mutation_p.P1351L|PPIP5K1_uc021sjx.1_Missense_Mutation_p.P305L	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA.	1376					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						GACCTCCTCAGGGATCTCTTC	0.547000														97			49		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198665886	198665886	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:198665886C>T	uc001gur.1	+	3	320	c.140C>T	c.(139-141)cCc>cTc	p.P47L	PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Intron|PTPRC_uc009wzf.1_Intron|PTPRC_uc021pgy.1_Missense_Mutation_p.P49L|PTPRC_uc010ppg.1_Intron|PTPRC_uc001guu.1_Missense_Mutation_p.P90L|PTPRC_uc001guv.1_Intron|PTPRC_uc001guw.1_Intron	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	47					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCAAGTGACCCCTTACCTACT	0.418000														135			23		0	0	1	0	0
HIATL1	84641	broad.mit.edu	37	9	97218585	97218585	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:97218585C>T	uc004aur.3	+	9	1361	c.1092C>T	c.(1090-1092)gcC>gcT	p.A364A	HIATL1_uc011luh.2_Intron	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	Homo sapiens hippocampus abundant transcript-like 1 (HIATL1), mRNA.	364					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				CAATCAGTGCCCTCGTCTCTC	0.582000														64			21		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916519	42916520	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42916519_42916520CC>TT	uc003cmh.3	-	0	1114_1115	c.789_790GG>AA	c.(787-792)agggag>agAAag	p.E264K	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	264					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	p.E264K(2)		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)		ACCCCCTGCTCCCTCAGAAACT	0.579000														19			8		0	0	1	0	0
BDKRB1	623	broad.mit.edu	37	14	96731038	96731038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:96731038C>T	uc021sbj.1	+	0	1019	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	BDKRB1_uc001yfh.3_Missense_Mutation_p.S340L	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	340					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CCAATATCTTCATCCCATAGG	0.388000														162			65		0	0	1	0	0
L32131	0	broad.mit.edu	37	17	58511106	58511106	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:58511106G>A	uc002iyr.1	-	0		c.2252C>T								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		GCATTCCACAGCACCACTGTT	0.398000														43			13		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422620	26422620	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26422620C>T	uc003abz.1	+	42	6930	c.6680C>T	c.(6679-6681)cCc>cTc	p.P2227L	MYO18B_uc003aca.1_Missense_Mutation_p.P2108L|MYO18B_uc010guy.1_Missense_Mutation_p.P2109L|MYO18B_uc010guz.1_Missense_Mutation_p.P2107L|MYO18B_uc011aka.1_Missense_Mutation_p.P1381L|MYO18B_uc011akb.1_Missense_Mutation_p.P1740L|MYO18B_uc010gva.1_Missense_Mutation_p.P210L|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2227						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						GCTTCCTCTCCCCTGGCTTCT	0.577000														45			12		0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238722307	238722307	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:238722307G>A	uc002vxi.4	+	1	190	c.58G>A	c.(58-60)Gga>Aga	p.G20R		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	19							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CCACAGTAATGGAGGCAACCT	0.423000														47			16		0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54867965	54867965	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54867965C>T	uc002qfk.1	-	7	936	c.626_splice	c.e7+1	p.R209_splice	LAIR1_uc002qfl.1_Splice_Site_p.R192_splice|LAIR1_uc002qfm.1_Splice_Site_p.R208_splice|LAIR1_uc002qfn.1_Splice_Site_p.R191_splice|LAIR1_uc010yex.2_Splice_Site_p.R202_splice|LAIR1_uc002qfo.3_Splice_Site_p.R191_splice	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	209						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GGGGCCTCACCTCTGCTGTGG	0.592000														107			13		0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47358979	47358979	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:47358979G>A	uc021qis.1	-	24	2620	c.2565C>T	c.(2563-2565)tcC>tcT	p.S855S	MYBPC3_uc021qir.1_Silent_p.S507S|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	854	Fibronectin type-III 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGCTGGGCCTGGACATGCCGA	0.622000														33			20		0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987444	22987444	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22987444C>T	uc001bgd.3	+	2	459	c.327C>T	c.(325-327)ccC>ccT	p.P109P		NM_000491	NP_000482	P02746	C1QB_HUMAN	Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA.	109	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		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;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	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)	CCCCAGGCCCCAAAGGTGAAT	0.632000														65			20		0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17422640	17422640	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:17422640G>A	uc011kye.2	+	11	2130	c.2082G>A	c.(2080-2082)aaG>aaA	p.K694K	SLC7A2_uc011kyc.2_Silent_p.K654K|SLC7A2_uc011kyd.2_Silent_p.K693K	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	654					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TCCATGAAAAGACAAGTGAAT	0.433000														26			13		0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200213792	200213792	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:200213792C>T	uc002uuy.2	-	6	1622	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	SATB2_uc010fsq.2_Missense_Mutation_p.E151K|SATB2_uc002uva.2_Missense_Mutation_p.E269K|SATB2_uc002uuz.2_Missense_Mutation_p.E269K|SATB2_uc002uvb.1_Missense_Mutation_p.E12K	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	269						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGAGACTGTTCGTTGGTTTTC	0.498000														63			30		0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206653844	206653844	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:206653844C>T	uc001hdz.2	+	12	1973	c.1395C>T	c.(1393-1395)ctC>ctT	p.L465L	IKBKE_uc001hea.2_Silent_p.L380L|IKBKE_uc009xbv.2_Silent_p.L465L	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	465					DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GGACATCCCTCCTCTACCTCA	0.612000														21			9		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45399639	45399639	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45399639C>T	uc001zun.3	-	13	1800	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	DUOX2_uc010bea.3_Missense_Mutation_p.E533K	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	533	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CGGATGTCTTCAATCTCCTTC	0.552000														102			42		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110831353	110831353	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:110831353G>A	uc001vqw.4	-	30	2497	c.2375C>T	c.(2374-2376)tCc>tTc	p.S792F		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	792	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.G791V(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGACCCCACGGAGCCTGGCAA	0.607000														11			3		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140596022	140596022	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140596022C>T	uc003lja.1	+	0	2514	c.2327C>T	c.(2326-2328)cCc>cTc	p.P776L		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	776					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.P776H(2)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTTCCCTCCCCAGTGCCCT	0.468000														118			55		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17228372	17228372	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:17228372C>T	uc002dfa.3	-	8	2070	c.1985G>A	c.(1984-1986)cGg>cAg	p.R662Q		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	662					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGTCTCGGCCCGTCGAAGACC	0.612000														89			7		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815175	82815175	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:82815175G>A	uc003kii.3	+	6	1406	c.1050G>A	c.(1048-1050)gaG>gaA	p.E350E	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.E350E|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	350	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TAGCTAAAGAGGCTACAACCA	0.373000														80			35		0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151711762	151711762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:151711762C>T	uc003wkp.3	+	7	1330	c.1060C>T	c.(1060-1062)Ccc>Tcc	p.P354S	GALNTL5_uc010lqf.3_Missense_Mutation_p.P243S|GALNTL5_uc003wkq.3_Missense_Mutation_p.P105S|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	354	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CTTTATAATCCCCTGCTCTCG	0.398000														96			34		0	0	1	0	0
NDUFB4	4710	broad.mit.edu	37	3	120319969	120319969	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:120319969C>T	uc003edu.3	+	1	271	c.192C>T	c.(190-192)gcC>gcT	p.A64A	NDUFB4_uc003edt.3_Silent_p.A64A	NM_004547	NP_004538	O95168	NDUB4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa (NDUFB4), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	64					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	AAAATCCTGCCTTGCTTCGTT	0.393000														141			44		0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54281334	54281334	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:54281334G>A	uc003jpk.3	-	0	81	c.12C>T	c.(10-12)gtC>gtT	p.V4V	ESM1_uc010ivt.3_Silent_p.V4V	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Homo sapiens endothelial cell-specific molecule 1 (ESM1), transcript variant 1, mRNA.	4					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TCAGCAGCAAGACGCTCTTCA	0.597000														59			10		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66426077	66426077	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:66426077C>T	uc002eom.4	+	6	1164	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	CDH5_uc002eon.1_Silent_p.I336I	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	336	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ACAGCTTCATCGTCGAGGCCA	0.542000														186			52		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121647268	121647268	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121647268G>A	uc003eep.2	+	15	1360	c.1207_splice	c.e15-1	p.E403_splice	SLC15A2_uc011bjn.1_Splice_Site_p.E372_splice	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	403					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTGCTCTAAGGAAATGGCCCC	0.463000														163			49		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166976277	166976277	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:166976277G>A	uc003irh.2	+	12	2221	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	TLL1_uc011cjn.2_Missense_Mutation_p.G548E|TLL1_uc011cjo.2_Missense_Mutation_p.G349E	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	525	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)		GTTAGAGATGGAACCAGTGAA	0.338000														83			30		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318381	48318381	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48318381G>A	uc003toq.2	+	17	7614	c.7590G>A	c.(7588-7590)aaG>aaA	p.K2530K	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2530					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCTGGTCAAGAAAGTTTCGG	0.413000														158			69		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635089	33635089	+	Missense_Mutation	SNP	G	A	A	rs150287359		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:33635089G>A	uc001uus.3	+	3	1881	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	625	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.S624S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CATGGCCAGCGAGCTTGTCCG	0.627000														85			13		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87195420	87195420	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87195420G>A	uc003uiz.2	-	7	1161	c.668C>T	c.(667-669)cCt>cTt	p.P223L	ABCB1_uc011khc.2_Missense_Mutation_p.P159L	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	223	ABC transmembrane type-1 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)	TCCAAGAACAGGACTGATGGC	0.463000														57			22		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353848	77353848	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:77353848C>T	uc002ffc.4	-	15	2849	c.2430G>A	c.(2428-2430)ggG>ggA	p.G810G	ADAMTS18_uc010chc.1_Silent_p.G398G|ADAMTS18_uc002ffe.1_Silent_p.G506G	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	810	Spacer.				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						AGGGGAACTCCCCAGGCCAGT	0.577000														65			26		0	0	1	0	0
PHF5A	84844	broad.mit.edu	37	22	41864706	41864707	+	Splice_Site	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:41864706_41864707CC>TT	uc003bab.3	-	1	1	c.-50_splice	c.e1-1		ACO2_uc003bac.3_5'Flank	NM_032758	NP_116147	Q7RTV0	PHF5A_HUMAN	Homo sapiens PHD finger protein 5A (PHF5A), mRNA.						nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	U12-type spliceosomal complex|U2 snRNP|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TTCCGTCCGACCTTTAACCCCC	0.540000														24			19		0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113703756	113703756	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113703756G>A	uc011lwo.2	-	1	743	c.741C>T	c.(739-741)ccC>ccT	p.P247P	LPAR1_uc004bfa.3_Silent_p.P246P|LPAR1_uc011lwm.2_Silent_p.P247P|LPAR1_uc004bfc.3_Silent_p.P246P|LPAR1_uc011lwn.2_Silent_p.P228P|LPAR1_uc004bfb.3_Silent_p.P246P|LPAR1_uc010mub.3_Silent_p.P246P	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	246					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GATTCCGCCGGGGTCCAGAAC	0.453000														55			23		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30681077	30681077	+	Silent	SNP	G	A	A	rs144222920	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30681077G>A	uc003nrg.4	-	4	1082	c.642C>T	c.(640-642)ttC>ttT	p.F214F	MDC1_uc003nrf.4_5'UTR|MDC1_uc011dmp.1_Silent_p.F86F|MDC1_uc003nrh.1_Silent_p.F86F|MDC1_uc003nri.2_Silent_p.F214F	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	214	Interaction with the MRN complex.|Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGTTCAAATTGAAGGCAAAAG	0.527000								Other conserved DNA damage response genes						99			18		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800953	185800953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:185800953C>T	uc002uph.3	+	3	1424	c.830C>T	c.(829-831)tCt>tTt	p.S277F		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	277						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAAACTAACTCTTTTCATCCA	0.368000														93			20		0	0	1	0	0
STK4	6789	broad.mit.edu	37	20	43610472	43610472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43610472C>T	uc002xnb.3	+	3	338	c.248C>T	c.(247-249)cCt>cTt	p.P83L	STK4_uc010ggx.3_Missense_Mutation_p.P83L|STK4_uc010ggy.3_Missense_Mutation_p.P83L|STK4_uc010ggw.1_Missense_Mutation_p.P83L	NM_006282	NP_006273	Q13043	STK4_HUMAN	Homo sapiens serine/threonine kinase 4 (STK4), mRNA.	83	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				CTCTCTAGCCCTCATGTAGTC	0.343000														53			16		0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612740	20612740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20612740G>A	uc010tla.2	+	0	846	c.846G>A	c.(844-846)atG>atA	p.M282I		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TTCCTTTGATGAACCCTGTTA	0.413000														163			70		0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64973550	64973550	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:64973550G>A	uc001jmn.3	-	7	2677	c.2377C>T	c.(2377-2379)Cct>Tct	p.P793S	JMJD1C_uc001jml.3_Missense_Mutation_p.P574S|JMJD1C_uc001jmm.3_Missense_Mutation_p.P505S|JMJD1C_uc010qiq.2_Missense_Mutation_p.P611S|JMJD1C_uc009xpi.3_Missense_Mutation_p.P611S|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Missense_Mutation_p.P505S	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	793					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGTAAATGAGGGTGATGAACA	0.507000														30			15		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19404516	19404516	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:19404516G>A	uc001bbi.3	-	103	15282	c.15278C>T	c.(15277-15279)tCc>tTc	p.S5093F	UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.3_5'UTR|UBR4_uc010ocv.2_Missense_Mutation_p.S616F|UBR4_uc009vph.3_Missense_Mutation_p.S727F|UBR4_uc010ocw.2_Missense_Mutation_p.S757F|UBR4_uc001bbg.3_Missense_Mutation_p.S804F|UBR4_uc001bbh.3_Missense_Mutation_p.S802F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	5093					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAAGAGAAGGGAAGAACGGTA	0.473000														29			13		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47506910	47506911	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:47506910_47506911GG>AA	uc002leb.2	-	8	1247_1248	c.959_960CC>TT	c.(958-960)tcc>tTT	p.S320F	MYO5B_uc021ukb.1_Missense_Mutation_p.S319F	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	320	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCATCTGATGGGACTCTTTCAC	0.391000														52			9		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	163581	163581	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:163581C>T	uc003jak.2	+	10	2376	c.2326C>T	c.(2326-2328)Ccc>Tcc	p.P776S		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	776					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGCCAGGAGCCCCCCGGTCAC	0.652000														34			15		0	0	1	0	0
SUCLA2	8803	broad.mit.edu	37	13	48571090	48571090	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:48571090G>A	uc001vbs.3	-	1	216	c.159C>T	c.(157-159)ctC>ctT	p.L53L	SUCLA2_uc010tgb.2_5'UTR|SUCLA2_uc010tgc.2_5'UTR|SUCLA2_uc010tgd.2_5'UTR	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	Homo sapiens succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2), nuclear gene encoding mitochondrial protein, mRNA.	53					succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	CATGTAGTGAGAGATTCCTTT	0.403000														59			29		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36129141	36129141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:36129141C>T	uc021rid.1	+	43	7358	c.6824C>T	c.(6823-6825)aCt>aTt	p.T2275I	NBEA_uc021ric.1_Missense_Mutation_p.T2272I|NBEA_uc010abi.3_Missense_Mutation_p.T931I|NBEA_uc010tee.1_Missense_Mutation_p.T68I|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.T68I|NBEA_uc010teg.1_Missense_Mutation_p.T68I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2275	BEACH.					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)		TCATTGGCCACTCCTCGACAG	0.328000														21			11		0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143633133	143633133	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143633133C>T	uc011ktv.2	+	0	808	c.808C>T	c.(808-810)Caa>Taa	p.Q270*		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CTCAGTCCTTCAAGAGAAGCT	0.507000														96			41		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17599924	17599924	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17599924C>T	uc001bai.3	+	9	1177	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	379					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGCAGGATTTCCCTTACAAAA	0.617000														34			21		0	0	1	0	0
Y00482	0	broad.mit.edu	37	7	38388866	38388866	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:38388866G>A	uc022aca.1	-	1	623	c.444C>T	c.(442-444)ttC>ttT	p.F148F	LOC100506776_uc003tgp.2_Intron					SubName: Full=T-cell gamma protein; Flags: Fragment;																		TTGGTGACAGGAAATGAGAGG	0.512000														6			4		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949917	56949917	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56949917C>T	uc001njl.2	+	0	697	c.550C>T	c.(550-552)Cac>Tac	p.H184Y		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	154						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGGGCTAGTCCACATCGACCT	0.607000														34			16		0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169417815	169417815	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169417815G>A	uc002uec.1	+	2	514	c.390G>A	c.(388-390)acG>acA	p.T130T	CERS6_uc002ueb.1_Silent_p.T130T	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	130	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GCACGCTGACGAGGTTCTGTG	0.463000														112			39		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48595010	48595010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48595010G>A	uc010wmr.2	+	3	710	c.548G>A	c.(547-549)gGg>gAg	p.G183E	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	146					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CACATCTTGGGGAGTCTCCAG	0.512000														40			27		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51890209	51890209	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:51890209C>T	uc003pah.1	-	31	4675	c.4399G>A	c.(4399-4401)Ggg>Agg	p.G1467R	PKHD1_uc003pai.3_Missense_Mutation_p.G1467R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1467	IPT/TIG 9.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGGTTAGCCCATTGACCAGG	0.537000														33			18		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144944740	144944740	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144944740C>T	uc003zaa.1	-	0	2695	c.2682G>A	c.(2680-2682)gaG>gaA	p.E894E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	894						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGATACCGGCCTCCAGGAGCT	0.662000														16			5		0	0	1	0	0
VOPP1	81552	broad.mit.edu	37	7	55565347	55565347	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55565347G>A	uc003tqs.3	-	2	333	c.150C>T	c.(148-150)tgC>tgT	p.C50C	VOPP1_uc003tqq.3_Silent_p.C41C|VOPP1_uc010kzh.3_Silent_p.C47C|VOPP1_uc010kzi.3_Silent_p.C33C|VOPP1_uc011kcr.2_5'UTR	NM_030796	NP_110423	Q96AW1	VOPP1_HUMAN	Homo sapiens vesicular, overexpressed in cancer, prosurvival protein 1 (VOPP1), mRNA.	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						CCCGCACACAGCACCTGGAGC	0.637000														75			17		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8235575	8235575	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:8235575C>T	uc003wsh.4	-	1	344	c.344G>A	c.(343-345)cGa>cAa	p.R115Q		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	115							ATP binding|non-membrane spanning protein tyrosine kinase activity										GCCAGGGGCTCGTCTCCAGAT	0.547000														83			30		0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187023	123187024	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:123187023_123187024GG>AA	uc001ucx.1	-	0	881_882	c.807_808CC>TT	c.(805-810)taccgc>taTTgc	p.R270C	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	270					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	TCCACCGAGCGGTACACTTCAC	0.550000														42			6		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4835838	4835838	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4835838C>T	uc001qne.1	+	1	444	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	118						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCAAATGAAACTCTTCCCACA	0.507000														26			11		0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33318442	33318442	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:33318442C>T	uc002yph.3	+	3	1065	c.705C>T	c.(703-705)ctC>ctT	p.L235L		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	235	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CTGAACTGCTCGCCAGGAAGA	0.542000														84			7		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85715876	85715876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:85715876G>A	uc003hpd.3	-	20	3691	c.3283C>T	c.(3283-3285)Cct>Tct	p.P1095S		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1095						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAGGGAGGAGGGAAGAATCTT	0.343000														41			16		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225438	21225438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21225438C>T	uc002red.3	-	28	12984	c.12856G>A	c.(12856-12858)Gcc>Acc	p.A4286T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4286					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GACTGAATGGCTTTAAATACC	0.348000														114			45		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157509152	157509152	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157509152G>A	uc009wsm.3	-	6	1284	c.1126C>T	c.(1126-1128)Ccc>Tcc	p.P376S	FCRL5_uc001fqu.3_Missense_Mutation_p.P376S|FCRL5_uc010phv.1_Missense_Mutation_p.P376S|FCRL5_uc010phw.1_Missense_Mutation_p.P291S|FCRL5_uc001fqv.1_Missense_Mutation_p.P376S|FCRL5_uc010phx.2_Missense_Mutation_p.P127S	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	376						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGAGACACGGGAACTGAGAGA	0.458000														43			13		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83362658	83362658	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:83362658G>A	uc004eej.2	-	12	1120	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S	RPS6KA6_uc011mqt.2_Missense_Mutation_p.P362S|RPS6KA6_uc011mqu.2_Missense_Mutation_p.P259S	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	362	AGC-kinase C-terminal.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GTAAATTCAGGATCAAAACAA	0.303000														18			11		0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16760838	16760838	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:16760838C>T	uc003goz.3	-	1	494	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	LDB2_uc003gpa.3_Missense_Mutation_p.E60K|LDB2_uc011bxh.2_Missense_Mutation_p.E60K|LDB2_uc003gpb.3_Missense_Mutation_p.E60K|LDB2_uc010iee.3_Missense_Mutation_p.E60K	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	60							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GCGTCATCTTCAAAAAATTCA	0.378000														74			28		0	0	1	0	0
CXCL10	3627	broad.mit.edu	37	4	76943088	76943088	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:76943088G>A	uc003hjl.4	-	3	397	c.292C>T	c.(292-294)Cct>Tct	p.P98S	ART3_uc003hji.3_Intron|ART3_uc003hjj.3_Intron|ART3_uc003hjk.3_Intron	NM_001565	NP_001556	P02778	CXL10_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 10 (CXCL10), mRNA.	98					blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGGTTTTAAGGAGATCTTTTA	0.453000														128			50		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26739344	26739344	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:26739344C>T	uc002rhk.3	-	4	578	c.451G>A	c.(451-453)Gga>Aga	p.G151R	OTOF_uc010ylb.1_Non-coding_Transcript	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	151					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGCAGTCCATCCGTCTCT	0.632000														123			29		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607138	42607138	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:42607138G>A	uc003bcj.1	-	0	4308	c.4174C>T	c.(4174-4176)Cct>Tct	p.P1392S	TCF20_uc003bck.1_Missense_Mutation_p.P1392S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCTTCAGGAGGACCACTCTTC	0.507000														110			19		0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45410212	45410212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:45410212C>T	uc001rok.1	-	3	1049	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R292T(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GGAGAATTCTCCCTCCATCTT	0.498000														77			34		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29008201	29008201	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29008201G>A	uc001usb.3	-	4	955	c.670C>T	c.(670-672)Cga>Tga	p.R224*	FLT1_uc010aar.1_Nonsense_Mutation_p.R224*|FLT1_uc001usc.3_Nonsense_Mutation_p.R224*|FLT1_uc010tdp.1_Nonsense_Mutation_p.R224*	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	224					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTACTTTGTCGATGTGTGAGA	0.353000														77			24		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75078455	75078455	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75078455G>A	uc001dgg.3	-	8	1258	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.P141S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	347								p.P347H(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						AGACTGAAGGGGAAACCATGA	0.413000														44			20		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114290845	114290845	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:114290845G>A	uc003ynu.3	-	2	649	c.490C>T	c.(490-492)Cat>Tat	p.H164Y	CSMD3_uc003ynt.3_Missense_Mutation_p.H124Y|CSMD3_uc011lhx.2_Missense_Mutation_p.H164Y|CSMD3_uc010mcx.1_Missense_Mutation_p.H164Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	164	CUB 1.					integral to membrane|plasma membrane				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						TTAAATCCATGAGCACTAACT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				74			21		0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76928970	76928970	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:76928970C>T	uc001xsr.3	+	4	851	c.480C>T	c.(478-480)ttC>ttT	p.F160F	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Silent_p.F160F	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	160						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCTGCCGCTTCATGAAATGCC	0.582000														113			52		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10235458	10235458	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10235458G>A	uc002gmk.1	-	19	2346	c.2256C>T	c.(2254-2256)tcC>tcT	p.S752S		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	752	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCACATCGATGGAGTTGAGGA	0.547000														38			29		0	0	1	0	0
SH3BP2	6452	broad.mit.edu	37	4	2829023	2829023	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:2829023C>T	uc003gfi.4	+	5	615	c.495C>T	c.(493-495)tcC>tcT	p.S165S	SH3BP2_uc011bvp.2_Silent_p.S193S|SH3BP2_uc003gfj.4_Silent_p.S222S|SH3BP2_uc003gfk.4_Silent_p.S165S|SH3BP2_uc003gfl.4_Silent_p.S98S|SH3BP2_uc003gfm.4_Silent_p.S140S	NM_001122681	NP_003014	P78314	3BP2_HUMAN	Homo sapiens SH3-domain binding protein 2 (SH3BP2), transcript variant 2, mRNA.	165					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TCAGCCTTTCCCCGTACCCCA	0.627000									Cherubism					58			23		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158627485	158627485	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158627485C>T	uc001fst.1	-	19	2787	c.2588_splice	c.e19-1	p.G863_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	863					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAAAGTGTCCTATGGAGTAA	0.413000														88			31		0	0	1	0	0
OSR2	116039	broad.mit.edu	37	8	99961684	99961684	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:99961684G>A	uc011lgx.2	+	2	1288	c.867G>A	c.(865-867)acG>acA	p.T289T	OSR2_uc010mbn.2_Silent_p.T168T|OSR2_uc003yir.3_Silent_p.T168T|OSR2_uc003yiq.3_Silent_p.T168T	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	Homo sapiens odd-skipped related 2 (Drosophila) (OSR2), transcript variant 1, mRNA.	168					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CCTCCAAAACGAAAAAAGAGT	0.522000														232			73		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102470966	102470966	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:102470966C>T	uc001yks.2	+	23	5159	c.4995C>T	c.(4993-4995)atC>atT	p.I1665I		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1665	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGAGCATCATCCTGAACGAGG	0.378000														54			25		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6697719	6697719	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6697719C>T	uc002mfm.3	-	19	2589	c.2527G>A	c.(2527-2529)Gag>Aag	p.E843K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	843					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.N842N(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCACCTGCTCGTTTCGAACA	0.587000														30			41		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14939133	14939133	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:14939133C>T	uc003bzc.3	+	4	2976	c.2866C>T	c.(2866-2868)Cat>Tat	p.H956Y	FGD5_uc011avk.2_Missense_Mutation_p.H956Y|FGD5_uc003bzd.3_Missense_Mutation_p.H34Y	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	956	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.D955D(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCACGACCTTCATCAAGGCAT	0.587000														12			3		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075737	145075737	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:145075737G>A	uc001elo.3	-	0	450	c.126C>T	c.(124-126)tcC>tcT	p.S42S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001emh.3_Silent_p.S42S|PDE4DIP_uc001emk.3_Non-coding_Transcript	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 3, mRNA.	716					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.R41L(1)		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)		TCTGCCGTGGGGACTGAGGGG	0.736000			T	PDGFRB	MPD									109			12		0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95056388	95056388	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:95056388G>A	uc001ydm.2	+	3	840	c.630G>A	c.(628-630)gaG>gaA	p.E210E	SERPINA5_uc010ave.2_Silent_p.E210E|SERPINA3_uc001ydo.4_5'Flank	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	210					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.W209L(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTAAGTGGGAGACAAGCTTCA	0.433000														21			15		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109817360	109817360	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:109817360C>T	uc010agk.2	+	32	5898	c.5276C>T	c.(5275-5277)tCa>tTa	p.S1759L	MYO16_uc001vqt.1_Missense_Mutation_p.S1737L	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1737					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTATCTAATTCACTATCTAGT	0.348000														32			14		0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89671018	89671018	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:89671018C>T	uc003hse.1	-	15	2191	c.1983G>A	c.(1981-1983)gaG>gaA	p.E661E	FAM13A_uc003hsa.1_Silent_p.E132E|FAM13A_uc003hsb.1_Silent_p.E335E|FAM13A_uc003hsd.1_Silent_p.E335E|FAM13A_uc003hsc.1_Silent_p.E321E|FAM13A_uc011cdq.1_Silent_p.E307E|FAM13A_uc003hsf.1_Silent_p.E247E|FAM13A_uc003hsg.1_Silent_p.E132E|FAM13A_uc010ikr.1_Silent_p.E157E	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	661					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GTGTCAGGTCCTCTTGCTCAT	0.502000														55			23		0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777308	123777309	+	Missense_Mutation	DNP	CC	TT	TT	rs79929702		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123777308_123777309CC>TT	uc010saa.2	+	0	170_171	c.170_171CC>TT	c.(169-171)acc>aTT	p.T57I		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CAACTTCATACCCCCATGTACT	0.401000														147			42		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155448522	155448522	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155448522G>A	uc009wqq.3	-	2	4619	c.4139C>T	c.(4138-4140)cCa>cTa	p.P1380L	ASH1L_uc001fkt.3_Missense_Mutation_p.P1380L|ASH1L_uc009wqr.1_Missense_Mutation_p.P1380L	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1380	Pro-rich.				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)			ACCATAAGATGGATAGAATCC	0.453000														52			23		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44553214	44553214	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44553214C>T	uc003tlb.3	-	19	3968	c.3912G>A	c.(3910-3912)caG>caA	p.Q1304Q	NPC1L1_uc011kbw.2_Silent_p.Q1231Q|NPC1L1_uc003tlc.3_Silent_p.Q1277Q|NPC1L1_uc003tla.3_3'UTR	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1304					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)	CAGCCCGCTTCTGCTCCAGTG	0.597000														54			29		0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45537767	45537767	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45537767C>T	uc021uvq.1	+	10	1466	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	RELB_uc021uvp.1_Silent_p.F442F	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	445						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TGGACCACTTCCTGCCCAACC	0.622000														11			5		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11070974	11070974	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:11070974G>A	uc010hdq.3	+	11	1670	c.1259G>A	c.(1258-1260)aGa>aAa	p.R420K		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	420					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.R419H(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CGCAACCGCAGAGAGCTCTTC	0.567000														28			9		0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72005678	72005678	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:72005678G>A	uc001osj.3	-	13	1686	c.1636C>T	c.(1636-1638)Cgc>Tgc	p.R546C	CLPB_uc010rqx.2_Missense_Mutation_p.R501C|CLPB_uc010rqy.2_Missense_Mutation_p.R487C|CLPB_uc001osk.3_Missense_Mutation_p.R516C|CLPB_uc010rqz.2_Missense_Mutation_p.R345C|CLPB_uc001osi.3_Missense_Mutation_p.R154C	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	546					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						AGGATAGGGCGAATCACATTC	0.468000														120			48		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703632	4703632	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4703632G>A	uc001lzk.2	-	1	554	c.310C>T	c.(310-312)Cat>Tat	p.H104Y	OR51E2_uc021qcr.1_Missense_Mutation_p.H104Y	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAGAGGGCATGAATAAAGAAC	0.517000														46			17		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857927	9857927	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:9857927G>A	uc010uym.2	-	13	3784	c.3474C>T	c.(3472-3474)ttC>ttT	p.F1158F	GRIN2A_uc002czo.4_Silent_p.F1158F|GRIN2A_uc010uyn.2_Silent_p.F1001F|GRIN2A_uc002czr.4_Silent_p.F1158F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1158					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCCCTTGCGGAAGTTTTCAC	0.527000														155			13		0	0	1	0	0
CECR5	27440	broad.mit.edu	37	22	17630511	17630511	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17630511G>A	uc002zmf.3	-	1	279	c.251C>T	c.(250-252)cCc>cTc	p.P84L	CECR5_uc002zmh.3_Missense_Mutation_p.P54L	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 5 (CECR5), transcript variant 2, mRNA.	84							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				AAAAACCACGGGCACCCGCAG	0.587000														121			63		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72326435	72326435	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72326435G>A	uc001jrd.4	+	19	2798	c.2517G>A	c.(2515-2517)cgG>cgA	p.R839R	KIAA1274_uc001jre.4_Silent_p.R130R	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	839										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						TGCGCTACCGGTGGCAGGAGC	0.677000														19			3		0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27943722	27943722	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27943722C>T	uc001boj.3	-	3	660	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	FGR_uc001boi.3_5'Flank|FGR_uc001bok.3_Missense_Mutation_p.E172K|FGR_uc001bol.3_Missense_Mutation_p.E172K|FGR_uc001bom.3_Missense_Mutation_p.E172K	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	172	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.R171W(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTCTCGCTTTCCCGAATGAGA	0.592000														61			30		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45712900	45712900	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45712900G>A	uc002zei.2	+	9	1247	c.1120G>A	c.(1120-1122)Gga>Aga	p.G374R	AIRE_uc010gpq.2_Non-coding_Transcript|AIRE_uc002zej.2_Missense_Mutation_p.G177R|AIRE_uc010gpr.2_Missense_Mutation_p.G177R	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	374					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		TAGGTCGGCGGGAGAGGAGGT	0.682000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					65			10		0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18257561	18257561	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:18257561G>A	uc022asl.1	+	0	48	c.48G>A	c.(46-48)agG>agA	p.R16R	NAT2_uc003wyw.1_Silent_p.R16R	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	16					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		AGAACTCTAGGAACAAATTGG	0.378000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					150			68		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187542685	187542685	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187542685G>A	uc003izf.3	-	9	5243	c.5055C>T	c.(5053-5055)ttC>ttT	p.F1685F		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1685	Cadherin 15.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCATCCCAACGAAACTCCCAA	0.388000										HNSCC(5;0.00058)				76			24		0	0	1	0	0
RBMY2FP	159162	broad.mit.edu	37	Y	24460745	24460745	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrY:24460745G>A	uc004fvc.3	+	3	435	c.319G>A	c.(319-321)Gga>Aga	p.G107R	RBMY1F_uc004fvd.3_Intron|RBMY1F_uc011nbh.2_Intron					Homo sapiens RNA binding motif protein, Y-linked, family 2, member F pseudogene (RBMY2FP), non-coding RNA.																		AAGCCCTTCAGGATGTCTGAG	0.448000														9			8		0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114292282	114292282	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:114292282G>A	uc003vhb.3	+	8	1493	c.1119G>A	c.(1117-1119)ttG>ttA	p.L373L	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.L398L|FOXP2_uc003vha.3_Silent_p.L281L|FOXP2_uc011kmv.2_Silent_p.L372L|FOXP2_uc011kmu.2_Silent_p.L390L|FOXP2_uc010ljz.2_Silent_p.L281L|FOXP2_uc003vhc.3_Silent_p.L398L|FOXP2_uc003vhd.3_Silent_p.L373L|MIR3666_uc022ake.1_5'Flank	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	373					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AACACGCATTGGATGACCGAA	0.408000														59			11		0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36982475	36982475	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:36982475G>A	uc010jwp.1	+	6	1048	c.877G>A	c.(877-879)Gag>Aag	p.E293K	FGD2_uc003ong.2_Missense_Mutation_p.E15K|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Missense_Mutation_p.E99K	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	293					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGCCATCACTGAGATGGTAAG	0.607000														29			15		0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95847143	95847143	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:95847143C>T	uc002suf.3	+	4	1032	c.570C>T	c.(568-570)acC>acT	p.T190T	ZNF2_uc002sug.3_Silent_p.T148T|ZNF2_uc010yue.2_Silent_p.T152T|ZNF2_uc010fhs.3_Silent_p.T110T	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CATCCCTCACCCGCCATCAGA	0.572000														94			22		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4702675	4702675	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:4702675C>T	uc003bqc.3	+	12	1460	c.1110C>T	c.(1108-1110)aaC>aaT	p.N370N	ITPR1_uc021wsi.1_Silent_p.N385N|ITPR1_uc021wsj.1_Silent_p.N370N|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	385	MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTGTTAGGAACTCTTATGTTC	0.368000														32			10		0	0	1	0	0
API5	8539	broad.mit.edu	37	11	43342980	43342980	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:43342980C>T	uc010rfh.1	+	3	518	c.345C>T	c.(343-345)aaC>aaT	p.N115N	API5_uc001mxf.2_Silent_p.N115N|API5_uc010rfg.1_Silent_p.N104N|API5_uc010rfi.1_Silent_p.N61N|API5_uc021qgi.1_Silent_p.N115N|API5_uc001mxg.3_5'UTR	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA.	115					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CAGAATTTAACCTAGTGAACA	0.303000														45			19		0	0	1	0	0
VWC2	375567	broad.mit.edu	37	7	49951662	49951662	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:49951662C>T	uc003tot.1	+	3	1415	c.859C>T	c.(859-861)Cct>Tct	p.P287S		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	Homo sapiens von Willebrand factor C domain containing 2 (VWC2), mRNA.	287					negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CGCGGTGATCCCTGCTGGCAG	0.423000														72			11		0	0	1	0	0
PEX5	5830	broad.mit.edu	37	12	7351705	7351705	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7351705C>T	uc009zfu.2	+	6	1127	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	PEX5_uc001qsw.3_Missense_Mutation_p.R183C|PEX5_uc010sgc.2_Missense_Mutation_p.R198C|PEX5_uc001qsu.3_Missense_Mutation_p.R183C|PEX5_uc010sgd.2_Missense_Mutation_p.R204C|PEX5_uc001qsv.3_Missense_Mutation_p.R183C	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	183					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						AGCCACCGATCGCTGGTGAGT	0.532000														10			5		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325546	31325546	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:31325546C>T	uc010dmg.1	+	11	5789	c.5734C>T	c.(5734-5736)Cat>Tat	p.H1912Y	ASXL3_uc002kxq.2_Missense_Mutation_p.H1619Y	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1912					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAACCTATTTCATGTTGACAA	0.527000														133			30		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167814888	167814888	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167814888G>A	uc001ger.3	-	20	3218	c.2920C>T	c.(2920-2922)Ccc>Tcc	p.P974S	ADCY10_uc010plj.2_Missense_Mutation_p.P821S|ADCY10_uc009wvk.3_Missense_Mutation_p.P882S|ADCY10_uc009wvl.3_Missense_Mutation_p.P973S	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	974					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TGATGATAGGGAATGAAGTCC	0.448000														68			33		0	0	1	0	0
SCARB1	949	broad.mit.edu	37	12	125270724	125270724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:125270724G>A	uc001ugp.3	-	10	1833	c.1580C>T	c.(1579-1581)tCt>tTt	p.S527F	SCARB1_uc001ugm.4_Intron|SCARB1_uc001ugn.4_Intron|SCARB1_uc010tbd.2_Intron|SCARB1_uc001ugo.4_Missense_Mutation_p.S527F	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	527					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GCATGCAAAAGACGCAAGCGT	0.642000														9			8		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780705	88780705	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:88780705G>A	uc001pcq.3	-	0	536	c.336C>T	c.(334-336)ttC>ttT	p.F112F	GRM5_uc009yvm.3_Silent_p.F112F|GRM5_uc009yvn.2_Silent_p.F112F	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	112					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.F112L(3)|p.E111A(1)|p.E111V(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AATCTCTTATGAACTCAATGC	0.527000														36			28		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438751	179438751	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179438751C>T	uc021vsy.1	-	274	64629	c.64404G>A	c.(64402-64404)aaG>aaA	p.K21468K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K15163K|TTN_uc021vta.1_Silent_p.K15096K|TTN_uc021vtb.1_Silent_p.K14971K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22395	Fibronectin type-III 55.						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)			TAACCGTGTCCTTAAATTTAA	0.463000														29			19		0	0	1	0	0
FER	2241	broad.mit.edu	37	5	108523217	108523217	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:108523217C>T	uc003kop.1	+	19	2794	c.2410C>T	c.(2410-2412)Cgc>Tgc	p.R804C	FER_uc011cvg.1_Missense_Mutation_p.R629C	NM_005246	NP_005237	P16591	FER_HUMAN	Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA.	804	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		ACCTGAAAATCGCCCTAAGTT	0.453000														64			24		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6184141	6184141	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6184141C>T	uc001amb.2	-	30	4677	c.4566G>A	c.(4564-4566)ggG>ggA	p.G1522G	CHD5_uc001alz.2_Silent_p.G379G|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1522					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCTGTACTTCCCGTTGACAT	0.632000														21			8		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6712357	6712357	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6712357C>T	uc002mfm.3	-	10	1242	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	394					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.G393G(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACAGTGTCCTCGCCCTGGACT	0.617000														48			21		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179561820	179561820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179561820G>A	uc010pnp.2	+	1	588	c.70G>A	c.(70-72)Gat>Aat	p.D24N	TDRD5_uc021pfm.1_Missense_Mutation_p.D24N|TDRD5_uc001gnf.2_Missense_Mutation_p.D24N|TDRD5_uc021pfn.1_Missense_Mutation_p.D24N|DQ578586_uc010pno.2_5'Flank	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	24	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTCCACCAAAGATGGTTTGAG	0.483000														146			16		0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671526	45671526	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:45671526G>A	uc021qgn.1	-	0	948	c.948C>T	c.(946-948)atC>atT	p.I316I	CHST1_uc001mys.2_Silent_p.I316I	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	316					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	p.E315K(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGAACCCGTAGATCTCCTCGG	0.642000														51			31		0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70418945	70418945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70418945G>A	uc001xlt.2	+	1	472	c.190G>A	c.(190-192)Gag>Aag	p.E64K	SMOC1_uc001xls.2_Missense_Mutation_p.E64K	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	64	Kazal-like.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CAGGTCCTACGAGTCCATGTG	0.577000														108			41		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208200648	208200648	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:208200648C>T	uc001hgz.3	-	31	6383	c.5625G>A	c.(5623-5625)cgG>cgA	p.R1875R	PLXNA2_uc001hgy.3_Silent_p.R145R	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1875					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCCGCTGCCGCCGTGCCTGCT	0.547000														85			29		0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6471258	6471258	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6471258G>A	uc001qnw.3	-	2	1275	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	SCNN1A_uc001qnv.3_5'UTR|SCNN1A_uc001qnx.3_Silent_p.F278F|SCNN1A_uc010sfb.2_Silent_p.F301F	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	278					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	AGGCGAAGATGAAGTTGCCCA	0.622000														65			5		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35753829	35753829	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35753829G>A	uc003jjo.3	+	23	3545	c.3434G>A	c.(3433-3435)gGa>gAa	p.G1145E	SPEF2_uc003jjp.1_Missense_Mutation_p.G631E	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1145					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GACACTCTTGGAATGACAATG	0.512000														155			30		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111141854	111141854	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:111141854C>T	uc001vqx.3	+	35	3560	c.3271_splice	c.e35+1	p.G1091_splice		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1091	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.F1090F(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTGGTGATTTCGGTGAGTGTT	0.507000														72			23		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106610738	106610738	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106610738G>A	uc021ser.1	-	1668		c.31922C>T								Parts of antibodies, mostly variable regions.																		TTTTAAAATAGCAGCAAGGAA	0.448000														158			43		0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729504	41729504	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:41729504G>A	uc003thq.3	-	1	1260	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	INHBA_uc003thr.3_Missense_Mutation_p.P342L	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	342					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.A341T(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ATAGCCAGAGGGAGCAATGAT	0.537000										TSP Lung(11;0.080)				103			30		0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46945084	46945084	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46945084G>A	uc003cqm.3	+	15	1923	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	PTH1R_uc021wxg.1_Missense_Mutation_p.E574K	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	574						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						CCTGGACGAGGAGGCCTCTGG	0.652000														120			57		0	0	1	0	0
LOC283547	283547	broad.mit.edu	37	14	39304870	39304870	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:39304870G>A	uc010amw.2	-	0		c.3539C>T			LOC283547_uc021rsj.1_Non-coding_Transcript|LOC283547_uc001wun.3_Non-coding_Transcript|LOC283547_uc001wuo.3_Non-coding_Transcript					Homo sapiens uncharacterized LOC283547 (LOC283547), non-coding RNA.																		TAATGGAGGTGGATCTTTAAG	0.488000														21			11		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15917200	15917200	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:15917200G>A	uc002ddx.3	-	2	521	c.414C>T	c.(412-414)atC>atT	p.I138I	MYH11_uc002ddv.3_Silent_p.I138I|MYH11_uc002ddw.3_Silent_p.I138I|MYH11_uc002ddy.3_Silent_p.I138I|MYH11_uc010bvg.3_5'UTR|MYH11_uc002deb.3_Silent_p.I138I	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	138	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACATGTCGACGATCTTCTCCG	0.552000			T	CBFB	AML									62			28		0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56742819	56742819	+	Missense_Mutation	SNP	G	A	A	rs149351309		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56742819G>A	uc001slc.3	-	16	1668	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S	STAT2_uc001slb.3_Missense_Mutation_p.P31S|STAT2_uc001sld.3_Missense_Mutation_p.P485S|STAT2_uc010sqn.2_3'UTR	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	489					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GGGGCCTTGGGGGGGTTGGAG	0.602000														52			18		0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25216031	25216031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:25216031C>T	uc011awl.2	+	0	209	c.143C>T	c.(142-144)cCg>cTg	p.P48L		NM_016152	NP_057236	P10826	RARB_HUMAN	Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA.	48	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CATGGACATCCGCCTCCGAGT	0.557000														68			23		0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46407393	46407393	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:46407393C>T	uc001nct.1	-	0	715	c.715G>A	c.(715-717)Gcc>Acc	p.A239T		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	239					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	AGCGTCTTGGCTTTCTTCTCC	0.642000														5			5		0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109284406	109284406	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:109284406G>A	uc001dvx.3	+	11	2182	c.2182G>A	c.(2182-2184)Ggg>Agg	p.G728R	FNDC7_uc010ova.2_Missense_Mutation_p.G485R	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	729						extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GATTTATAGAGGGAAGAGAAA	0.348000														44			13		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996416	140996416	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140996416C>T	uc004fbt.3	+	3	3550	c.3226C>T	c.(3226-3228)Cat>Tat	p.H1076Y	MAGEC1_uc010nsl.2_Missense_Mutation_p.H143Y|MAGEC1_uc022cfi.1_Missense_Mutation_p.H735Y	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1076	MAGE.						protein binding	p.H1076Y(2)		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)					TCCAAGAGCTCATTCAGAAGT	0.458000										HNSCC(15;0.026)				129			24		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101491710	101491710	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:101491710G>A	uc010svm.1	+	20	2565	c.1993G>A	c.(1993-1995)Gaa>Aaa	p.E665K	ANO4_uc001thw.2_Missense_Mutation_p.E630K|ANO4_uc001thx.2_Missense_Mutation_p.E665K|ANO4_uc001thy.2_Missense_Mutation_p.E185K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	665						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						taatttcatggaacttggcta	0.413000										HNSCC(74;0.22)				104			46		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251424	25251424	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:25251424G>A	uc002dod.4	-	6	3024	c.2617C>T	c.(2617-2619)Cat>Tat	p.H873Y	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.H669Y	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	873					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)		GCGCTGAAATGAGAACTGTTG	0.453000														49			25		0	0	1	0	0
AVPR1A	552	broad.mit.edu	37	12	63541245	63541245	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:63541245C>T	uc001sro.1	-	1	3125	c.1151G>A	c.(1150-1152)aGa>aAa	p.R384K		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	384					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	AAAAGTCTGTCTTCTGCTCAT	0.403000														117			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8999551	8999551	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8999551C>T	uc002mkp.3	-	55	40828	c.40624G>A	c.(40624-40626)Ggg>Agg	p.G13542R	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.G359R|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13544	SEA 10.			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						GTGGCTGCCCCATCCTTCTTG	0.602000														60			27		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105947179	105947179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105947179C>T	uc001kxw.3	-	13	1875	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	WDR96_uc009xxq.3_5'Flank|WDR96_uc001kxx.4_Missense_Mutation_p.E588K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	587										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGAGCGTGCTCCAACTCATAC	0.403000														55			29		0	0	1	0	0
HORMAD1	84072	broad.mit.edu	37	1	150672595	150672595	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:150672595C>T	uc001evk.2	-	13	1215	c.1097G>A	c.(1096-1098)gGg>gAg	p.G366E	GOLPH3L_uc001evj.2_5'Flank|GOLPH3L_uc010pci.1_5'Flank|HORMAD1_uc001evl.2_Missense_Mutation_p.G359E|HORMAD1_uc001evm.2_Missense_Mutation_p.G286E	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	Homo sapiens HORMA domain containing 1 (HORMAD1), transcript variant 1, mRNA.	366					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TACTATTCTCCCAGATTCATG	0.289000														39			8		0	0	1	0	0
YAE1D1	57002	broad.mit.edu	37	7	39610212	39610212	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:39610212C>T	uc003thc.4	+	1	252	c.237C>T	c.(235-237)ctC>ctT	p.L79L		NM_020192	NP_064577	Q9NRH1	CG036_HUMAN	Homo sapiens Yae1 domain containing 1 (YAE1D1), mRNA.	79																	ATGGACGACTCCGAGGAACAT	0.348000														89			26		0	0	1	0	0
C19orf6	91304	broad.mit.edu	37	19	1010531	1010531	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:1010531G>A	uc002lqr.1	-	10	1827	c.1681C>T	c.(1681-1683)Ctc>Ttc	p.L561F	FLJ00277_uc002lqp.1_5'Flank|C19orf6_uc021ume.1_Missense_Mutation_p.L120F|C19orf6_uc002lqs.1_3'UTR	NM_001033026	NP_001028198	Q4ZIN3	MBRL_HUMAN	Homo sapiens chromosome 19 open reading frame 6 (C19orf6), transcript variant 1, mRNA.	561						cytoplasm|integral to membrane				breast(1)|cervix(1)|endometrium(3)|lung(2)|ovary(1)|pancreas(2)|skin(1)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTCCAGGAGGGAGGCGCTC	0.701000														1			2		0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55614818	55614818	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55614818G>A	uc010spf.2	+	0	10	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TATGATCTGTGAAAATCACAC	0.313000														168			28		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14775943	14775943	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14775943G>A	uc003zlm.3	-	25	5517	c.4701C>T	c.(4699-4701)ttC>ttT	p.F1567F	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_5'Flank|FREM1_uc003zll.3_Silent_p.F103F	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1567					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCTGCTGGGTGAAATTGTGTT	0.557000														122			13		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84537235	84537235	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:84537235C>T	uc004eer.2	-	15	1884	c.1738G>A	c.(1738-1740)Gag>Aag	p.E580K	POF1B_uc004ees.3_Missense_Mutation_p.E580K	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	580							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TCTGTTTTCTCAATCACAATA	0.368000														14			16		0	0	1	0	0
TMEM5	10329	broad.mit.edu	37	12	64202844	64202844	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:64202844G>A	uc001srq.1	+	5	1408	c.1304G>A	c.(1303-1305)aGc>aAc	p.S435N	TMEM5_uc001srs.1_Missense_Mutation_p.S175N	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	Homo sapiens transmembrane protein 5 (TMEM5), mRNA.	435						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		ATTTTAGAAAGCTCATTTTTA	0.249000														34			8		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87170679	87170679	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87170679G>A	uc003uiz.2	-	18	2806	c.2313C>T	c.(2311-2313)ttC>ttT	p.F771F	ABCB1_uc011khc.2_Silent_p.F707F	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	771	ABC transmembrane type-1 2.				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)	TTACCTGAAGGAAAAATGTAA	0.299000														42			19		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149867	153149867	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:153149867C>T	uc011dcy.2	+	12	2219	c.2192C>T	c.(2191-2193)aCc>aTc	p.T731I	GRIA1_uc003lva.4_Missense_Mutation_p.T721I|GRIA1_uc003luy.4_Missense_Mutation_p.T721I|GRIA1_uc003luz.4_Missense_Mutation_p.T626I|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.T641I|GRIA1_uc011dcx.2_Missense_Mutation_p.T652I|GRIA1_uc011dcz.2_Missense_Mutation_p.T731I	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	721					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTGGAGTCCACCATGAATGAG	0.502000														47			15		0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44415468	44415468	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44415468C>T	uc001ckx.3	+	1	1259	c.464C>T	c.(463-465)tCa>tTa	p.S155L		NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	155					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GCTGAGGACTCACCAGTGGAT	0.617000														24			6		0	0	1	0	0
MEGF9	1955	broad.mit.edu	37	9	123476144	123476144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:123476144G>A	uc004bkj.2	-	0	622	c.469C>T	c.(469-471)Ccg>Tcg	p.P157S	MEGF9_uc022bms.1_Missense_Mutation_p.P165S|MEGF9_uc004bkk.4_Missense_Mutation_p.P157S	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	Homo sapiens multiple EGF-like-domains 9 (MEGF9), mRNA.	165	Pro-rich.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						GTGGGCGCCGGTACGGTGGTC	0.726000														26			15		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94052354	94052354	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94052354G>A	uc003ung.1	+	39	2960	c.2489G>A	c.(2488-2490)cGa>cAa	p.R830Q	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	830			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	p.G829V(1)	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)	CCAGTTGGCCGAACTGGAGAA	0.562000										HNSCC(75;0.22)				92			40		0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40669560	40669560	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:40669560C>T	uc011aor.2	+	6	3308	c.3097C>T	c.(3097-3099)Cac>Tac	p.H1033Y	TNRC6B_uc003aym.3_Missense_Mutation_p.H286Y|TNRC6B_uc003ayn.4_Missense_Mutation_p.H980Y|TNRC6B_uc003ayo.3_Missense_Mutation_p.H837Y	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1033					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						TGCTTCCTCCCACAACTCAGC	0.552000														4			4		0	0	1	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091012	11091013	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:11091012_11091013GG>AA	uc010shi.2	-	0	794_795	c.794_795CC>TT	c.(793-795)tcc>tTT	p.S265F	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Non-coding_Transcript	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	Homo sapiens taste receptor, type 2, member 14 (TAS2R14), mRNA.	265					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CCATCACCTGGGAAAGAATAAT	0.421000														124			11		0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202185	248202185	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248202185C>T	uc001idw.3	+	0	712	c.616C>T	c.(616-618)Ctt>Ttt	p.L206F	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CACCATCTTTCTTGTGCTTCC	0.478000														255			28		0	0	1	0	0
NUMBL	9253	broad.mit.edu	37	19	41188694	41188694	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41188694G>A	uc002oon.3	-	4	506	c.338C>T	c.(337-339)tCc>tTc	p.S113F	NUMBL_uc010xvq.2_Missense_Mutation_p.S72F|NUMBL_uc010xvr.2_Missense_Mutation_p.S72F|NUMBL_uc002ooo.3_Missense_Mutation_p.S113F	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	113	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	p.S113S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			AGACTTCACGGACTTTCGGCC	0.652000														60			19		0	0	1	0	0
LGI4	163175	broad.mit.edu	37	19	35622914	35622914	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35622914G>A	uc002nxx.2	-	3	941	c.347C>T	c.(346-348)tCt>tTt	p.S116F	LGI4_uc002nxy.1_5'UTR|LGI4_uc002nxz.1_5'UTR|LGI4_uc002nya.3_Missense_Mutation_p.S116F	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 4 (LGI4), mRNA.	116						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGCATTCTTAGAGATGGAGCC	0.607000														9			5		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150840933	150840933	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:150840933G>A	uc004fev.4	+	13	2048	c.1716G>A	c.(1714-1716)ctG>ctA	p.L572L		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	572						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)					agcagccactgaagcaTAATG	0.522000														27			7		0	0	1	0	0
PGF	5228	broad.mit.edu	37	14	75416173	75416173	+	Missense_Mutation	SNP	C	T	T	rs143175863		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75416173C>T	uc010ase.2	-	2	724	c.202G>A	c.(202-204)Gag>Aag	p.E68K	PGF_uc001xqz.3_Missense_Mutation_p.E68K|PGF_uc001xrb.3_Missense_Mutation_p.E68K|PGF_uc010asf.2_Silent_p.A53A	NM_001207012	NP_001193941	P49763	PLGF_HUMAN	Homo sapiens placental growth factor (PGF), transcript variant 2, mRNA.	68					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)		TGCTCCACCTCGCTGGGGTAC	0.652000														20			7		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104341555	104341555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104341555C>T	uc004bbp.2	-	6	3455	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	GRIN3A_uc004bbo.2_Missense_Mutation_p.E27K|GRIN3A_uc004bbq.1_Missense_Mutation_p.E952K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	952	PPP2CB binding site (By similarity).				response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ACTATGTGCTCACCAATGGTG	0.478000														44			8		0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	520865	520865	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:520865C>T	uc003gak.4	+	9	2243	c.2107C>T	c.(2107-2109)Ctc>Ttc	p.L703F	PIGG_uc003gaj.4_Missense_Mutation_p.L695F|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Missense_Mutation_p.L570F|PIGG_uc003gal.4_Missense_Mutation_p.L614F	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	703					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CCTGGCTGCCCTCTCCCTCCT	0.572000														35			14		0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	93879776	93879776	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:93879776G>A	uc001vlt.3	+	0	699	c.67G>A	c.(67-69)Gcg>Acg	p.A23T	GPC6_uc010tig.1_Missense_Mutation_p.A23T	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	23						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CCCCGCCGGGGCGGATGTGAA	0.627000											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		53			18		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221646	59221646	+	Silent	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:59221646C>G	uc010dps.1	+	10	2276	c.2124C>G	c.(2122-2124)ctC>ctG	p.L708L	CDH20_uc002lif.2_Silent_p.L702L	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	708					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)				TCGAGAGCCTCTCCCGCTACG	0.687000														51			14		0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59189838	59189838	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59189838C>T	uc010rkt.2	-	0	589	c.589G>A	c.(589-591)Gag>Aag	p.E197K		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GTCACCACCTCGCTGGTGAAG	0.478000														46			32		0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798094	55798094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55798094C>T	uc010riw.2	+	0	200	c.200C>T	c.(199-201)tCt>tTt	p.S67F		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AGCAACTTATCTTTCTTAGAC	0.343000														53			25		0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88967948	88967948	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:88967948C>T	uc002fmm.2	-	1	557	c.268G>A	c.(268-270)Ggg>Agg	p.G90R	CBFA2T3_uc002fml.2_Missense_Mutation_p.G29R|CBFA2T3_uc010cif.1_Missense_Mutation_p.G29R|CBFA2T3_uc002fmn.2_Missense_Mutation_p.G90R	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	90	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGTGTGGCCCCCTGGGATGCG	0.687000			T	RUNX1	AML									32			11		0	0	1	0	0
GFPT1	2673	broad.mit.edu	37	2	69556865	69556865	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:69556865G>A	uc002sfi.2	-	15	1731	c.1548C>T	c.(1546-1548)tcC>tcT	p.S516S	GFPT1_uc002sfh.3_Silent_p.S498S	NM_001244710	NP_001231639	Q06210	GFPT1_HUMAN	Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.	516	SIS 1.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TTTCTTGCATGGAGATCCGAT	0.418000														90			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594547	179594547	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179594547C>T	uc021vsy.1	-	59	14926	c.14701G>A	c.(14701-14703)Gaa>Aaa	p.E4901K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1562K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5828	Ig-like 29.						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)			GCTGTTATTTCATTCCCGTCT	0.428000														53			35		0	0	1	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105379	60105379	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60105379C>T	uc001npd.3	+	1	327	c.313C>T	c.(313-315)Cct>Tct	p.P105S		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	105						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TTATCATTCACCTTACACCAT	0.408000														92			30		0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978303	10978303	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10978303G>A	uc001qyy.1	-	0	566	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	189					sensory perception of taste	integral to membrane	taste receptor activity	p.S189S(1)		breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGTAATTAGGGATAGTGTAAA	0.358000														64			32		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717552	13717552	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:13717552C>T	uc001rbt.2	-	12	2799	c.2620G>A	c.(2620-2622)Ggg>Agg	p.G874R		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	874					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATCGCCACCCCATGGATGCAG	0.527000														114			37		0	0	1	0	0
UBE2E2	7325	broad.mit.edu	37	3	23541152	23541152	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:23541152C>T	uc003ccg.2	+	3	461	c.281C>T	c.(280-282)cCc>cTc	p.P94L	UBE2E2_uc010hfc.2_Intron|MIR548AC_uc021wtz.1_Intron	NM_152653	NP_689866	Q96LR5	UB2E2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2E 2 (UBE2E2), mRNA.	94					ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						ATATTGGGACCCCCAGGATCT	0.398000														73			16		0	0	1	0	0
PKM2	5315	broad.mit.edu	37	15	72509755	72509755	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72509755G>A	uc002aty.2	-	2	525	c.241C>T	c.(241-243)Cat>Tat	p.H81Y	PKM2_uc010bit.1_Missense_Mutation_p.H86Y|PKM2_uc010uki.2_Missense_Mutation_p.H155Y|PKM2_uc002atx.2_Missense_Mutation_p.H81Y|PKM2_uc002atw.2_Missense_Mutation_p.H81Y|PKM2_uc010ukj.2_Intron|PKM2_uc010ukk.2_Intron|PKM2_uc002atv.2_Missense_Mutation_p.H116Y|PKM2_uc010biu.1_Missense_Mutation_p.H102Y	NM_002654	NP_002645	P14618	KPYM_HUMAN	Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 1, mRNA.	81					glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1)	13					Pyruvic acid(DB00119)	CTCACCTCATGAGTTCCATGA	0.507000														76			34		0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891895	5891895	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:5891895G>A	uc002kmx.1	-	0	209	c.168C>T	c.(166-168)gcC>gcT	p.A56A		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	56						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TCCCACAGAGGGCGATGAGCC	0.622000														30			9		0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124404084	124404085	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:124404084_124404085GG>AA	uc003vli.3	-	0	1597_1598	c.946_947CC>TT	c.(946-948)ccg>TTg	p.P316L		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	316						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GATGACCAGCGGAAGGCAGAAG	0.535000														134			63		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26165032	26165032	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26165032G>A	uc003abz.1	+	3	1399	c.1149G>A	c.(1147-1149)ggG>ggA	p.G383G	MYO18B_uc003aca.1_Silent_p.G264G|MYO18B_uc010guy.1_Silent_p.G264G|MYO18B_uc010guz.1_Silent_p.G264G|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	383						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						GCACGACTGGGAAGGCAGGTG	0.582000														20			11		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79458278	79458278	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:79458278G>A	uc003hlb.2	+	71	11662	c.11222G>A	c.(11221-11223)gGg>gAg	p.G3741E		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3736					cell communication	integral to membrane|plasma membrane	metal ion binding	p.P3740H(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GATCCCACGGGGACAATCTAC	0.423000														54			33		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14781671	14781671	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:14781671C>T	uc001rcd.3	-	20	2295	c.2158_splice	c.e20-1	p.V720_splice		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	720	Protein kinase.				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						AGTAGGTACACCTGGAAGAAA	0.363000														72			14		0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48519169	48519169	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:48519169C>T	uc002pht.3	+	3	406	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	76	Fibronectin type-II 2.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GCTGTATCTTCCCTTTCATCT	0.458000														49			19		0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86389422	86389422	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:86389422C>T	uc003ydk.2	+	5	761	c.581C>T	c.(580-582)cCa>cTa	p.P194L	CA2_uc022axe.1_5'Flank	NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	194					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TGGACCTACCCAGGCTCACTG	0.512000														240			32		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43614358	43614358	+	Silent	SNP	G	A	A	rs142184960		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:43614358G>A	uc003bdt.2	-	14	1921	c.1794C>T	c.(1792-1794)gtC>gtT	p.V598V		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	598					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CAGTGCCTGAGACCTGGACAT	0.647000														102			75		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65623883	65623883	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65623883C>T	uc002aos.2	-	7	1515	c.1263G>A	c.(1261-1263)gaG>gaA	p.E421E	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	421										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CGGGGAGCCCCTCAGCCCACA	0.617000														29			9		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49176534	49176534	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49176534G>A	uc001rsh.4	-	0	1344	c.684C>T	c.(682-684)ctC>ctT	p.L228L	ADCY6_uc001rsi.4_Silent_p.L228L|ADCY6_uc001rsj.4_Silent_p.L228L	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	228					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGTCTGCTGCGAGAGCGCCCC	0.667000														11			3		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42880695	42880695	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42880695C>T	uc002otl.4	+	40	8740	c.8105C>T	c.(8104-8106)aCt>aTt	p.T2702I	MEGF8_uc002otm.4_Missense_Mutation_p.T2310I|MEGF8_uc002otn.4_Missense_Mutation_p.T363I	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2769						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)				GGGCCCATCACTCTCGAGCCC	0.721000														5			3		0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54872769	54872769	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54872769G>A	uc002qfk.1	-	2	428	c.118C>T	c.(118-120)Ccc>Tcc	p.P40S	LAIR1_uc002qfl.1_Missense_Mutation_p.P40S|LAIR1_uc002qfm.1_Missense_Mutation_p.P39S|LAIR1_uc002qfn.1_Missense_Mutation_p.P39S|LAIR1_uc010yex.2_Missense_Mutation_p.P33S|LAIR1_uc002qfo.3_Missense_Mutation_p.P22S	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	40	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CTCCCCAGGGGGATCACGGTG	0.577000														151			54		0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241725561	241725561	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:241725561C>T	uc009xgp.3	+	6	855	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	KMO_uc001hyy.3_Missense_Mutation_p.R222C|KMO_uc009xgo.2_Missense_Mutation_p.R222C	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	182					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GAAGAAACCTCGCTTTGATTA	0.438000														120			30		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40438554	40438554	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:40438554G>A	uc003gvc.2	-	4	1944	c.1234C>T	c.(1234-1236)Cat>Tat	p.H412Y	RBM47_uc003gvd.2_Intron|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.H374Y	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	412						nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TTCCCTTCATGATATCGGCTA	0.522000														238			19		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121384953	121384953	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121384953G>A	uc001pxx.3	+	7	1263	c.1134G>A	c.(1132-1134)gaG>gaA	p.E378E		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	378					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGAGGCAGAGGGGCTGAAGT	0.522000														92			6		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200894	132200894	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:132200894C>T	uc002tst.2	-	0	1574	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		TACAGCTGCTCCACCAGGCCG	0.627000														15			5		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39085814	39085814	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:39085814G>A	uc002rrf.3	-	5	1675	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Nonsense_Mutation_p.R526*	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	526							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.F525F(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TGTTTCATTCGGAACTGCTTG	0.413000														198			86		0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55672734	55672734	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55672734G>A	uc002qjl.1	-	6	922	c.920C>T	c.(919-921)gCc>gTc	p.A307V	DNAAF3_uc002qjh.1_Missense_Mutation_p.A54V|DNAAF3_uc002qji.1_Missense_Mutation_p.A239V|DNAAF3_uc002qjj.1_Missense_Mutation_p.A286V|DNAAF3_uc002qjk.1_Missense_Mutation_p.A185V	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA.	239																	GAGTTCAAAGGCGACGCCTGT	0.667000														15			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9009703	9009703	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9009703G>A	uc002mkp.3	-	38	39227	c.39023C>T	c.(39022-39024)cCt>cTt	p.P13008L	MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13010					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						CACCAGGAGAGGAACAGCTGC	0.453000														111			37		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12336400	12336400	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12336400C>T	uc001atv.3	+	18	2896	c.2755C>T	c.(2755-2757)Ccc>Tcc	p.P919S	VPS13D_uc001atw.3_Missense_Mutation_p.P919S|VPS13D_uc001atx.3_Missense_Mutation_p.P107S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	919					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAAGATTTTTCCCCAGGAGGA	0.438000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		42			14		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8136997	8136997	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8136997C>T	uc002mjf.3	-	61	8040	c.8023G>A	c.(8023-8025)Gaa>Aaa	p.E2675K	FBN3_uc002mje.3_Missense_Mutation_p.E471K	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2675						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.E2675G(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATCTTGCATTCGTAGCAGGCT	0.662000														147			63		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159912807	159912807	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159912807G>A	uc001fur.2	-	2	391	c.193C>T	c.(193-195)Ccc>Tcc	p.P65S	IGSF9_uc001fuq.2_Missense_Mutation_p.P65S	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	65	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGAAGATGGGAAGCAGGAAT	0.612000														51			13		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113075045	113075045	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113075045C>T	uc021qqp.1	+	2	531	c.159C>T	c.(157-159)ttC>ttT	p.F53F	NCAM1_uc001pno.3_5'UTR|NCAM1_uc001pnp.3_Silent_p.F53F|NCAM1_uc021qqo.1_Silent_p.F53F|NCAM1_uc001pnq.3_Silent_p.F53F|NCAM1_uc001pnr.3_Silent_p.F53F	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	55	Ig-like C2-type 1.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCTCCTGGTTCTCCCCCAATG	0.468000														25			8		0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148932900	148932900	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:148932900G>A	uc010pbc.1	+	1		c.215G>A			LOC645166_uc010pbd.1_Non-coding_Transcript|LOC645166_uc009wkw.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		TCAGTCTGCGGCCAAGACTCC	0.612000														146			8		0	0	1	0	0
CAMK2G	818	broad.mit.edu	37	10	75576685	75576685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:75576685G>A	uc001jvv.2	-	18	1640	c.1510C>T	c.(1510-1512)Ccc>Tcc	p.P504S	CAMK2G_uc001jvs.2_Intron|CAMK2G_uc001jvm.2_Intron|CAMK2G_uc001jvo.2_Intron|CAMK2G_uc001jvp.2_Intron|CAMK2G_uc001jvq.2_Intron|CAMK2G_uc001jvr.2_Intron|CAMK2G_uc001jvt.2_Intron|CAMK2G_uc009xrp.1_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II gamma (CAMK2G), transcript variant 1, mRNA.	0					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					TCAAATAAGGGAAAAGTGGGC	0.542000														43			17		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134126	233134126	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233134126C>A	uc001hvl.2	-	31	5897	c.5662G>T	c.(5662-5664)Gga>Tga	p.G1888*	PCNXL2_uc001hvk.1_Nonsense_Mutation_p.G540*|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1888						integral to membrane		p.G1888R(2)		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)				GCCCCTCCTCCGTCCACGTCT	0.617000														47			8		7.48243e-07	7.49854e-07	1	1	0
SLC8A2	6543	broad.mit.edu	37	19	47941126	47941126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47941126C>T	uc010ele.3	-	5	2006	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K	SLC8A2_uc002pgx.3_Missense_Mutation_p.E664K|SLC8A2_uc010xyq.2_Missense_Mutation_p.E420K|SLC8A2_uc010xyr.2_Missense_Mutation_p.E127K			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	664					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TATGACTCCTCGATGATGACC	0.577000														92			45		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107744	55107744	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55107744G>A	uc002qgh.1	+	6	1231	c.1049G>A	c.(1048-1050)gGg>gAg	p.G350E	LILRA1_uc010yfg.1_Missense_Mutation_p.G348E|LILRA1_uc010yfh.2_Missense_Mutation_p.G350E	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	350	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CAGTCATGGGGGCCGTTCCAC	0.582000														86			41		0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58563491	58563491	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:58563491G>A	uc010tro.2	-	5	2352	c.2154C>T	c.(2152-2154)acC>acT	p.T718T	C14orf37_uc001xdc.3_Silent_p.T680T|C14orf37_uc001xdd.3_Silent_p.T680T	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	680						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GCACCTGGTAGGTAGCTCCCT	0.527000														34			19		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73490351	73490351	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73490351C>T	uc001jrx.4	+	29	4089	c.3699C>T	c.(3697-3699)gaC>gaT	p.D1233D	CDH23_uc001jrz.3_Silent_p.D1233D|C10orf105_uc001jsb.2_Intron|CDH23_uc001jsc.1_Silent_p.D43D	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1235	Cadherin 12.				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						AAGCCACAGACCGAGACTCTG	0.617000														43			9		0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784909	30784909	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30784909G>A	uc002wxn.2	-	2	1054	c.837C>T	c.(835-837)gcC>gcT	p.A279A		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	279						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGTCCCGAGAGGCCATGCACA	0.592000														51			19		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403730	47403730	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47403730C>T	uc001cqp.4	-	1	326	c.275G>A	c.(274-276)gGa>gAa	p.G92E	CYP4A11_uc001cqq.2_Missense_Mutation_p.G92E|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	92					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AACTTTGCCTCCCCATAGCCA	0.512000														107			34		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142120058	142120058	+	Missense_Mutation	SNP	C	T	T	rs141013676	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142120058C>T	uc022anf.1	-	1	153	c.124G>A	c.(124-126)Gat>Aat	p.D42N	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		AGAGTTACATCCTGTCCCCTC	0.468000														56			7		0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21563423	21563423	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:21563423G>A	uc009zzs.3	-	3	861	c.496C>T	c.(496-498)Cca>Tca	p.P166S	LATS2_uc001unr.4_Missense_Mutation_p.P166S	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	166					G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGCGTCACTGGGGTTGGCATG	0.607000														47			22		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28764623	28764623	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:28764623C>T	uc002rmb.2	+	12	868	c.824C>T	c.(823-825)tCc>tTc	p.S275F	PLB1_uc010ezj.2_Missense_Mutation_p.S286F	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	275	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAGCAGGAGTCCTTCACCGTG	0.592000														38			18		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198687314	198687314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:198687314C>T	uc001gur.1	+	13	1716	c.1536C>T	c.(1534-1536)ccC>ccT	p.P512P	PTPRC_uc001gut.1_Silent_p.P351P|PTPRC_uc009wzf.1_Silent_p.P400P|PTPRC_uc021pgy.1_Silent_p.P466P|PTPRC_uc010ppg.1_Silent_p.P448P	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	512	Fibronectin type-III 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GTAATGGCCCCCATGAACGTT	0.428000														55			19		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78322274	78322274	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:78322274C>T	uc003kfs.3	-	12	2169	c.2163G>A	c.(2161-2163)gaG>gaA	p.E721E	DMGDH_uc011cte.1_Silent_p.E571E|DMGDH_uc011ctf.1_Silent_p.E520E|DMGDH_uc011ctg.1_Silent_p.E341E	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	721					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TGAAGGCTTTCTCCAGGCGTA	0.423000														142			65		0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206224524	206224524	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:206224524C>T	uc001hds.2	+	0	242	c.84C>T	c.(82-84)ggC>ggT	p.G28G		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	28					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCTGGCTGGGCCGGGATGAGG	0.672000														257			88		0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113348734	113348734	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:113348734C>T	uc003ian.4	+	8	935	c.708C>T	c.(706-708)tcC>tcT	p.S236S	ALPK1_uc003iap.4_Silent_p.S236S|ALPK1_uc011cfx.2_Silent_p.S158S|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Silent_p.S64S	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	236							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGGGCCTCTCCACGTCGCTAG	0.383000														69			6		0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183777966	183777966	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183777966G>A	uc003fmk.3	+	8	1204	c.1170G>A	c.(1168-1170)ggG>ggA	p.G390G		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	390						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGTTAGCAGGGAAGAAGCTGG	0.607000														36			13		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270770	1270770	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1270770C>T	uc002cks.3	+	34	7086	c.6838C>T	c.(6838-6840)Cct>Tct	p.P2280S	CACNA1H_uc002ckt.3_Missense_Mutation_p.P2274S|CACNA1H_uc002cku.3_Missense_Mutation_p.P975S|CACNA1H_uc010brj.3_Missense_Mutation_p.P991S|CACNA1H_uc002ckv.3_Missense_Mutation_p.P969S	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2280					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)	CAGTGGAGACCCTTTCTTGGA	0.652000														62			23		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524985	112524985	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:112524985C>T	uc001ebu.1	-	1	844	c.364G>A	c.(364-366)Ggc>Agc	p.G122S	KCND3_uc001ebv.1_Missense_Mutation_p.G122S	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	122						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGGAGGATGCCGTAGAAGGCC	0.617000														71			10		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158581078	158581078	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158581078G>A	uc001fst.1	-	51	7435	c.7236C>T	c.(7234-7236)ttC>ttT	p.F2412F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2412				GRSHLSGYDYVGFTNSYFGN -> VEAISLAMTTLASPIPT LATNKQLLVDRRKS (in Ref. 1; AAA60577/ AAA60994).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGGAATTGGTGAAGCCAACGT	0.483000														45			15		0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216737577	216737577	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:216737577C>T	uc001hkw.2	-	4	1019	c.846G>A	c.(844-846)tgG>tgA	p.W282*	ESRRG_uc009xdp.1_Nonsense_Mutation_p.W259*|ESRRG_uc001hky.1_Nonsense_Mutation_p.W259*|ESRRG_uc001hkz.2_Nonsense_Mutation_p.W220*|ESRRG_uc010puc.2_Nonsense_Mutation_p.W259*|ESRRG_uc001hla.2_Nonsense_Mutation_p.W259*|ESRRG_uc001hlb.2_Nonsense_Mutation_p.W259*|ESRRG_uc010pud.2_Nonsense_Mutation_p.W97*|ESRRG_uc021pja.1_Nonsense_Mutation_p.W31*|ESRRG_uc001hlc.1_Nonsense_Mutation_p.W259*|ESRRG_uc001hld.1_Nonsense_Mutation_p.W259*|ESRRG_uc001hkx.2_Nonsense_Mutation_p.W294*|ESRRG_uc009xdo.2_Nonsense_Mutation_p.W259*|ESRRG_uc001hle.2_Nonsense_Mutation_p.W259*|ESRRG_uc021piz.1_Nonsense_Mutation_p.W259*	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	282					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TATGCTTCGCCCATCCAATGA	0.423000														60			28		0	0	1	0	0
NSMCE4A	54780	broad.mit.edu	37	10	123730536	123730536	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:123730536G>A	uc001lfs.3	-	2	482	c.419C>T	c.(418-420)gCt>gTt	p.A140V	NSMCE4A_uc009xzv.3_Missense_Mutation_p.A140V|NSMCE4A_uc010qtu.1_5'UTR|NSMCE4A_uc001lfu.2_Missense_Mutation_p.A140V	NM_017615	NP_060085	Q9NXX6	NSE4A_HUMAN	Homo sapiens non-SMC element 4 homolog A (S. cerevisiae) (NSMCE4A), transcript variant 1, mRNA.	140										breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				CAAATCTGAAGCCAAAACAAG	0.393000														42			17		0	0	1	0	0
NNMT	4837	broad.mit.edu	37	11	114167333	114167333	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:114167333G>A	uc001por.1	+	2	319	c.55G>A	c.(55-57)Gat>Aat	p.D19N	NNMT_uc001pos.1_Missense_Mutation_p.D19N	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	19					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TAACCCTCGGGATTACCTAGA	0.428000														74			33		0	0	1	0	0
GABARAPL3	23766	broad.mit.edu	37	15	90892024	90892024	+	RNA	SNP	C	T	T	rs148461842	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90892024C>T	uc010uqf.2	-	0		c.656G>A								Homo sapiens GABA(A) receptors associated protein like 3, pseudogene (GABARAPL3), non-coding RNA.																		ACACACACACCCCTCCCCTAC	0.517000														21			16		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111551725	111551725	+	Missense_Mutation	SNP	G	A	A	rs150003283	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:111551725G>A	uc010yxk.1	+	4	543	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	107					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GATCCAGACCGAAGCCACCTT	0.537000														62			14		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576899	28576899	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28576899C>T	uc002kwj.4	-	14	2506	c.2351G>A	c.(2350-2352)gGa>gAa	p.G784E	DSC3_uc002kwi.4_Missense_Mutation_p.G784E	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	784					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.G784E(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTGGTTTCCTCCTTTCATCAT	0.498000														47			21		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582833	120582833	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:120582833G>A	uc001txo.3	-	39	5062	c.5049C>T	c.(5047-5049)gcC>gcT	p.A1683A		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1683				A -> V (in Ref. 7; AAC51648).	regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTTCACCATGGCCCCAAGGG	0.577000														77			27		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19195292	19195292	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19195292G>A	uc002dfw.3	+	4	1105	c.774G>A	c.(772-774)gaG>gaA	p.E258E	SYT17_uc002dfx.3_Silent_p.E197E|SYT17_uc002dfy.3_Silent_p.E254E	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	258	C2 1.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TGTTTGAGGAGCGCTACACCT	0.572000														137			19		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10415830	10415830	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10415830C>T	uc002gmo.3	-	11	1136	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	348	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GACACTCTTTCATCTGAAGTA	0.428000														72			23		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130308020	130308020	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130308020G>A	uc010htl.3	+	10	4243	c.4212G>A	c.(4210-4212)ggG>ggA	p.G1404G	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1404	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GACCACCAGGGAAAAGGGTGA	0.433000														26			9		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39109233	39109233	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:39109233C>T	uc004abi.3	-	14	2528	c.2289G>A	c.(2287-2289)caG>caA	p.Q763Q	CNTNAP3_uc004abj.3_Silent_p.Q762Q|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.Q763Q	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	763	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCATCACAATCTGAGTGACTG	0.463000														27			17		0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130465869	130465869	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:130465869C>T	uc003qbw.3	-	11	1687	c.1359G>A	c.(1357-1359)agG>agA	p.R453R	SAMD3_uc003qbx.3_Silent_p.R453R	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	453										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TGAGCCTCTCCCTTTCTAAAT	0.443000														29			24		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4835915	4835915	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4835915C>T	uc001qne.1	+	1	521	c.429C>T	c.(427-429)ctC>ctT	p.L143L		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	143						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCCAGGACCTCTTCCGGAAGT	0.557000														57			13		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494093	55494093	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55494093G>A	uc021vbq.1	+	5	1138	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	NLRP2_uc010yfp.2_Missense_Mutation_p.D320N|NLRP2_uc002qij.3_Missense_Mutation_p.D343N|NLRP2_uc010esp.3_Missense_Mutation_p.D321N|NLRP2_uc010esn.3_Missense_Mutation_p.D319N|NLRP2_uc010eso.3_Missense_Mutation_p.D340N	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	343	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGCCCTGAGGGACCTCCGGAT	0.627000														15			13		0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64824920	64824920	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64824920C>T	uc001ocn.3	-	3	542	c.526G>A	c.(526-528)Gag>Aag	p.E176K	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	176					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GTCTGTAGCTCCTTAAAGTCT	0.607000														49			22		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318780	30318780	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:30318780G>A	uc009xle.2	-	2	434	c.297C>T	c.(295-297)ccC>ccT	p.P99P	KIAA1462_uc001iux.3_Silent_p.P99P|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	99										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ATGCTGAGGGGGGTTGATTAC	0.512000														33			6		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94898020	94898020	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94898020G>A	uc003unp.3	+	12	3039	c.2757_splice	c.e12+1	p.K919_splice	PPP1R9A_uc010lfj.3_Splice_Site_p.K941_splice|PPP1R9A_uc011kif.2_Splice_Site_p.K919_splice|PPP1R9A_uc003unq.3_Splice_Site_p.K919_splice|PPP1R9A_uc011kig.2_Splice_Site_p.K919_splice|PPP1R9A_uc003unr.3_Splice_Site	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	919	Interacts with TGN38 (By similarity).					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)			AGAGAGAAAGGTGAGCACCCT	0.443000										HNSCC(28;0.073)				50			15		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189587118	189587118	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:189587118C>T	uc003fry.2	+	8	1224	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	TP63_uc003frx.2_Missense_Mutation_p.R379C|TP63_uc003frz.2_Missense_Mutation_p.R379C|TP63_uc010hzc.1_Missense_Mutation_p.R379C|TP63_uc003fsa.2_Missense_Mutation_p.R285C|TP63_uc003fsb.2_Missense_Mutation_p.R285C|TP63_uc003fsc.2_Missense_Mutation_p.R285C|TP63_uc003fsd.2_Missense_Mutation_p.R285C|TP63_uc021xir.1_Missense_Mutation_p.R285C|TP63_uc010hzd.1_Missense_Mutation_p.R200C|TP63_uc003fse.1_Missense_Mutation_p.R256C	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	379	Interaction with HIPK2.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R379C(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCAGCGTTTCGTCAGAACAC	0.363000										HNSCC(45;0.13)				53			13		0	0	1	0	0
C11orf42	160298	broad.mit.edu	37	11	6231270	6231270	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6231270G>A	uc001mcj.3	+	1	311	c.263G>A	c.(262-264)gGa>gAa	p.G88E		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	Homo sapiens chromosome 11 open reading frame 42 (C11orf42), mRNA.	88										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCAGGCAGGATCTGAGGGT	0.632000														38			20		0	0	1	0	0
KLC4	89953	broad.mit.edu	37	6	43034198	43034198	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43034198G>A	uc003otw.1	+	4	1099	c.780G>A	c.(778-780)gaG>gaA	p.E260E	KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otu.3_Silent_p.E242E|KLC4_uc003otv.1_Silent_p.E242E|KLC4_uc011dvd.1_Silent_p.E165E|KLC4_uc003otx.1_Silent_p.E242E|KLC4_uc003oty.1_Silent_p.E242E|KLC4_uc003otz.1_Silent_p.E242E	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	242						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AGGACCTGGAGCGCACATCAG	0.592000														70			18		0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49049243	49049243	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49049243C>T	uc003cvj.2	+	1	504	c.366C>T	c.(364-366)ctC>ctT	p.L122L	WDR6_uc011bbx.1_Intron|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Silent_p.L66L|WDR6_uc011bbz.1_Silent_p.L41L	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	92					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GCAAGGGACTCCGAGTTGTGA	0.557000														155			60		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64591999	64591999	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64591999G>A	uc001obs.4	-	36	4602	c.4602C>T	c.(4600-4602)gtC>gtT	p.V1534V		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1534					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						GCCGTTCTGAGACCTGCAGGA	0.577000														56			9		0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2740325	2740325	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:2740325C>T	uc003smr.1	+	1	601	c.240C>T	c.(238-240)ttC>ttT	p.F80F	AMZ1_uc003sms.1_Silent_p.F80F|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	80							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		TCCAGACCTTCCACGCCTCCC	0.667000														90			35		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123599975	123599975	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:123599975C>T	uc003vle.3	+	4	1921	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	SPAM1_uc011koa.1_Silent_p.F150F|SPAM1_uc003vld.3_Silent_p.F494F|SPAM1_uc022aks.1_Silent_p.F494F|SPAM1_uc003vlf.4_Silent_p.F494F|SPAM1_uc010lku.3_Silent_p.F494F	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	494					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)	CCACAATGTTCATTGTTAGTA	0.368000														76			30		0	0	1	0	0
DAND5	199699	broad.mit.edu	37	19	13084208	13084208	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:13084208C>T	uc002mwc.1	+	1	481	c.330C>T	c.(328-330)ttC>ttT	p.F110F	DAND5_uc010dyz.1_3'UTR	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	Homo sapiens DAN domain family, member 5 (DAND5), mRNA.	110	CTCK.					extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			CCCAGGTGTTCTCCCGGCCCG	0.622000														81			19		0	0	1	0	0
LYPD3	27076	broad.mit.edu	37	19	43965559	43965559	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43965559G>A	uc002owl.1	-	4	1093	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	LYPD3_uc002owm.3_3'UTR	NM_014400	NP_055215	O95274	LYPD3_HUMAN	Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA.	329						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				CCAGCTGTGGGAGCCACACAG	0.602000														29			12		0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155757553	155757553	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:155757553G>A	uc003qqm.3	-	7	901	c.798_splice	c.e7+1	p.S266_splice		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	266	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CATTCTTACCGAGGGTTCCTT	0.438000														65			32		0	0	1	0	0
WDR18	57418	broad.mit.edu	37	19	990989	990989	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:990989C>T	uc002lqm.1	+	4	761	c.735C>T	c.(733-735)ttC>ttT	p.F245F		NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	Homo sapiens WD repeat domain 18 (WDR18), mRNA.	245										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		TCGACCTCTTCACCTGGGTGA	0.652000														34			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222682	140222682	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140222682G>A	uc003lhs.2	+	0	1776	c.1776G>A	c.(1774-1776)gcG>gcA	p.A592A	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_uc003lhr.1_Silent_p.A592A	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	605					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)			ACGTGGTAGCGAAGGTGCGCG	0.697000														24			24		0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129664305	129664305	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:129664305G>A	uc003vpi.3	-	6	845	c.818C>T	c.(817-819)tCg>tTg	p.S273L	ZC3HC1_uc010lma.3_Missense_Mutation_p.S160L	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	273					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					CATACATTGCGAACATGTTAT	0.468000														33			17		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626169	142626169	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142626169G>A	uc003wby.1	-	4	798	c.534C>T	c.(532-534)atC>atT	p.I178I	TRPV5_uc003wbz.3_Silent_p.I178I	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	178					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCAGCCGCACGATCTCCTCGC	0.617000														31			10		0	0	1	0	0
RNMT	8731	broad.mit.edu	37	18	13746268	13746268	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:13746268G>C	uc002ksk.1	+	7	1256	c.1189G>C	c.(1189-1191)Gaa>Caa	p.E397Q	RNMT_uc002ksl.1_Missense_Mutation_p.E397Q|RNMT_uc002ksm.1_Missense_Mutation_p.E397Q|RNMT_uc010dlk.2_Missense_Mutation_p.E397Q|RNMT_uc010xae.1_Non-coding_Transcript	NM_003799	NP_003790	O43148	MCES_HUMAN	Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA.	397					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	RNA binding|mRNA (guanine-N7-)-methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AACATTTCTGGAATTCTACGA	0.308000														84			32		0	0	1	0	0
CTRC	11330	broad.mit.edu	37	1	15766993	15766993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:15766993C>T	uc001awi.1	+	2	160	c.137C>T	c.(136-138)tCc>tTc	p.S46F	CTRC_uc001awj.1_Missense_Mutation_p.S46F	NM_007272	NP_009203	Q99895	CTRC_HUMAN	Homo sapiens chymotrypsin C (caldecrin) (CTRC), mRNA.	46	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		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)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCAGATCTCCCTCCAGTAC	0.617000														21			16		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725545	140725545	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140725545C>T	uc003ljm.2	+	0	1945	c.1945C>T	c.(1945-1947)Cac>Tac	p.H649Y	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.H649Y	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	651	Cadherin 6.				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)			CGTCCAGGACCACGGCCAGCC	0.711000														112			26		0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120192591	120192591	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:120192591C>T	uc003ics.4	+	14	2642	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	USP53_uc003icr.4_Nonsense_Mutation_p.R526*|USP53_uc003icu.4_Nonsense_Mutation_p.R149*|USP53_uc003ict.3_Nonsense_Mutation_p.R149*	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	526					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACCTCAGAGTCGAGCTTCTGC	0.398000														71			31		0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15410457	15410457	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:15410457C>T	uc003nbj.3	+	2	428	c.184C>T	c.(184-186)Ctc>Ttc	p.L62F	JARID2_uc011diu.1_5'UTR|JARID2_uc011div.2_5'UTR|JARID2_uc011diw.1_Missense_Mutation_p.L24F	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	62					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACCTGTAGGGCTCCTTGGTAA	0.463000														82			33		0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6790008	6790008	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6790008G>A	uc001meq.1	-	0	181	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCAAGCAGGAGGTACATGGGC	0.522000														161			11		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784504	82784504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82784504C>T	uc003uhx.2	-	1	1742	c.1453G>A	c.(1453-1455)Ggc>Agc	p.G485S	PCLO_uc003uhv.2_Missense_Mutation_p.G485S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	435	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				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						TTTGCTGGGCCAGGCTGTTGA	0.607000														106			40		0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1079932	1079932	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:1079932G>A	uc002lqz.1	+	12	1749	c.1518G>A	c.(1516-1518)acG>acA	p.T506T	HMHA1_uc010xgd.1_Silent_p.T522T|HMHA1_uc010xge.1_Silent_p.T346T|HMHA1_uc002lra.1_Silent_p.T346T|HMHA1_uc002lrb.1_Silent_p.T389T|HMHA1_uc002lrc.1_Silent_p.T141T	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	506					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CGCAGGCCACGATCTCCTACT	0.677000														115			59		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41009435	41009435	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41009435C>T	uc003jmj.4	-	31	3857	c.3367G>A	c.(3367-3369)Gac>Aac	p.D1123N	HEATR7B2_uc003jmi.4_Missense_Mutation_p.D678N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1123							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						TCCAGTTTGTCTATTAAGGCT	0.507000														78			29		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55968569	55968569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:55968569G>A	uc003has.3	-	13	2396	c.2094C>T	c.(2092-2094)atC>atT	p.I698I	KDR_uc003hat.1_Silent_p.I698I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	698	Ig-like C2-type 7.				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			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)	TAAACCACATGATCTGTGGAG	0.458000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				85			51		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36069802	36069802	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:36069802G>A	uc003gsq.2	-	32	5180	c.4842C>T	c.(4840-4842)caC>caT	p.H1614H	ARAP2_uc003gso.3_Intron	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1614					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						GCTCCAGGCAGTGGGCCACCA	0.522000														135			27		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671766	125671766	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:125671766G>A	uc010flu.3	+	23	4189	c.3825G>A	c.(3823-3825)atG>atA	p.M1275I	CNTNAP5_uc002tno.3_Missense_Mutation_p.M1274I	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1274					cell adhesion|signal transduction	integral to membrane	receptor binding	p.K1275T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CGAGCCAGATGAAGGAGAAGG	0.443000														86			38		0	0	1	0	0
TMEM151A	256472	broad.mit.edu	37	11	66062685	66062685	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66062685C>T	uc001ohl.3	+	1	1080	c.968C>T	c.(967-969)tCg>tTg	p.S323L		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	Homo sapiens transmembrane protein 151A (TMEM151A), mRNA.	323						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						GGCGCCAGCTcgcccccgccg	0.716000														11			5		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94731275	94731275	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94731275G>A	uc001ycs.1	+	19	2342	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	730						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TAAAATGTTTGAAAAGAAACG	0.313000														127			40		0	0	1	0	0
LCE2D	353141	broad.mit.edu	37	1	152636718	152636718	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152636718C>T	uc021ozb.1	+	0	137	c.137C>T	c.(136-138)tCc>tTc	p.S46F	LCE2D_uc001fag.3_Missense_Mutation_p.S46F	NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	Homo sapiens late cornified envelope 2D (LCE2D), mRNA.	46	Cys-rich.				keratinization			p.S45C(1)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGTCTCTTCCTGCTGTGGT	0.632000														190			79		0	0	1	0	0
TM4SF4	7104	broad.mit.edu	37	3	149205458	149205458	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:149205458C>T	uc003exd.2	+	2	614	c.317C>T	c.(316-318)tCg>tTg	p.S106L		NM_004617	NP_004608	P48230	T4S4_HUMAN	Homo sapiens transmembrane 4 L six family member 4 (TM4SF4), mRNA.	106						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCTGGATACTCGTTTATCATC	0.502000														76			7		0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49918253	49918253	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49918253G>A	uc002pnm.2	+	17	1579	c.1374_splice	c.e17+1	p.T458_splice	CCDC155_uc010emx.2_Splice_Site_p.T429_splice	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.	458						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GCCAGGTCACGGTAGGCAGTC	0.592000														17			11		0	0	1	0	0
NMU	10874	broad.mit.edu	37	4	56471487	56471487	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:56471487G>A	uc003hbc.3	-	6	496	c.390C>T	c.(388-390)ctC>ctT	p.L130L	NMU_uc003hbd.1_Intron|NMU_uc010igv.1_Non-coding_Transcript|NMU_uc010igw.1_Silent_p.L45L|NMU_uc010igx.1_Intron	NM_006681	NP_006672	P48645	NMU_HUMAN	Homo sapiens neuromedin U (NMU), mRNA.	130					neuropeptide signaling pathway	extracellular region		p.Q129*(1)		lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		GGTGAGGAACGAGCTGCAGCA	0.502000														83			29		0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443930	5443930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5443930G>A	uc010qzd.2	+	0	590	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R167*(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTACTCAAGCGACTGCCTTTC	0.517000														226			106		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33140081	33140081	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33140081G>A	uc003ocx.1	-	39	3201	c.2973C>T	c.(2971-2973)ggC>ggT	p.G991G	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.G905G|COL11A2_uc003ocz.1_Silent_p.G884G	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	991	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGCCTGGGAGGCCTCTCTCTC	0.632000														7			3		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189868721	189868721	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189868721C>T	uc002uqj.1	+	38	2792	c.2675C>T	c.(2674-2676)cCc>cTc	p.P892L		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	892	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AACCCAGGACCCCCAGGTCCC	0.428000														25			4		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147016541	147016541	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:147016541G>A	uc010jgo.1	-	9	1749	c.1601C>T	c.(1600-1602)gCt>gTt	p.A534V	JAKMIP2_uc003loq.1_Missense_Mutation_p.A534V|JAKMIP2_uc011dbx.1_Missense_Mutation_p.A492V|JAKMIP2_uc003lor.1_Missense_Mutation_p.A534V|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	534						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTTTCTGAGCCAGAGTCGC	0.502000														254			27		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247607993	247607993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247607993C>T	uc001icr.3	+	9	3019	c.2881C>T	c.(2881-2883)Ctt>Ttt	p.L961F	NLRP3_uc001ics.3_Missense_Mutation_p.L904F|NLRP3_uc001icu.3_Missense_Mutation_p.L961F|NLRP3_uc001icw.3_Missense_Mutation_p.L904F|NLRP3_uc001icv.3_Missense_Mutation_p.L847F|NLRP3_uc010pyw.2_Missense_Mutation_p.L939F	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	961					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.D960N(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTGCTGGGATCTTTCCACACT	0.527000														49			22		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197189708	197189708	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:197189708C>T	uc002utm.1	-	5	920	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	HECW2_uc002utl.1_5'UTR	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	246	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCTTACCTCTCGGTGCCAAAT	0.512000														102			48		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172737294	172737294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:172737294C>T	uc003fin.4	-	3	1014	c.830G>A	c.(829-831)aGg>aAg	p.R277K		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	277					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTCTGAATACCTCTCCAGACA	0.348000														163			37		0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242755720	242755720	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242755720C>T	uc002wcp.2	+	1	572	c.78C>T	c.(76-78)ttC>ttT	p.F26F	NEU4_uc010fzr.3_Silent_p.F13F|NEU4_uc002wcm.3_Silent_p.F13F|NEU4_uc002wco.2_Silent_p.F13F|NEU4_uc002wcn.2_Silent_p.F25F	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	13						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CAGTGCTCTTCGAGCGGGAGA	0.697000														41			9		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27147881	27147881	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27147881C>A	uc002rhu.4	+	2	546	c.388C>A	c.(388-390)Ctc>Atc	p.L130I	DPYSL5_uc002rhv.4_Missense_Mutation_p.L130I|DPYSL5_uc021vev.1_Missense_Mutation_p.L130I	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	130					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATTACGCCCTCCACGTGGG	0.607000														33			13		0.000151284	0.000151477	1	1	0
FGA	2243	broad.mit.edu	37	4	155507766	155507766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155507766C>T	uc003iod.1	-	4	873	c.815G>A	c.(814-816)gGa>gAa	p.G272E	FGA_uc003ioe.1_Missense_Mutation_p.G272E|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	272					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGTGGAGCCTCCTCGAGTAAT	0.537000														121			63		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53241751	53241751	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53241751C>T	uc001sbc.1	-	1	603	c.539G>A	c.(538-540)cGa>cAa	p.R180Q		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	180	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity	p.R180L(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CAGAGCCCCTCGTTCTCCCTG	0.607000														58			8		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416107	86416107	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:86416107C>T	uc003uid.3	+	2	2098	c.999C>T	c.(997-999)ttC>ttT	p.F333F	GRM3_uc010lef.3_Silent_p.F331F|GRM3_uc010leg.3_Silent_p.F205F|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	333					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)	TCCGCCAGTTCGACCGCTACT	0.627000														25			17		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52536041	52536041	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52536041G>A	uc003dej.3	+	3	425	c.351G>A	c.(349-351)gaG>gaA	p.E117E	STAB1_uc003dei.1_Silent_p.E117E	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	117	EGF-like 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGGCGCTGAGACCCCATGCA	0.637000														43			14		0	0	1	0	0
IL2RA	3559	broad.mit.edu	37	10	6061852	6061852	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:6061852G>A	uc001iiz.2	-	4	855	c.636C>T	c.(634-636)tcC>tcT	p.S212S	IL2RA_uc009xih.2_Silent_p.S140S|IL2RA_uc001ija.1_Intron	NM_000417	NP_000408	P01589	IL2RA_HUMAN	Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	212					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TGACGAGGCAGGAAGTCTCAC	0.577000														86			35		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256171	15256171	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15256171C>T	uc001iob.3	-	7	1423	c.1416G>A	c.(1414-1416)atG>atA	p.M472I		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	472						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTTCTCTTTCCATAGATTTTC	0.468000														65			31		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880804	142880804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142880804C>T	uc011ksw.2	+	0	293	c.293C>T	c.(292-294)tCa>tTa	p.S98L		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	98					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.S98*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					ACCATCAGCTCAACCTCCCTA	0.388000														116			46		0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32955532	32955532	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:32955532C>T	uc001mty.3	+	3	2608	c.2341C>T	c.(2341-2343)Cat>Tat	p.H781Y	QSER1_uc001mtz.1_Missense_Mutation_p.H542Y|QSER1_uc001mua.3_Missense_Mutation_p.H286Y	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	781	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CAATGGTGATCATTCTCAGCA	0.403000														108			33		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322672	55322672	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55322672T>C	uc010rig.2	+	0	890	c.890T>C	c.(889-891)aTt>aCt	p.I297T		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H296Y(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GGATCTCACATTGCTGTTGTG	0.433000										HNSCC(20;0.049)				151			46		0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85327597	85327598	+	Missense_Mutation	DNP	CC	TT	TT	rs148220929		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:85327597_85327598CC>TT	uc002bld.3	+	3	2027_2028	c.1691_1692CC>TT	c.(1690-1692)ccc>cTT	p.P564L	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	564					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N563T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCTCCAACCCCGTGCCCCTCT	0.594000														186			52		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321402	52321402	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:52321402G>A	uc003xqu.4	-	16	2883	c.2782C>T	c.(2782-2784)Ccc>Tcc	p.P928S	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	928					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.P127S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTTCCGGAGGGAGGCCAAGGA	0.647000														15			9		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86249817	86249817	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:86249817G>A	uc001dlj.3	-	49	4275	c.4200C>T	c.(4198-4200)ttC>ttT	p.F1400F	COL24A1_uc001dli.3_Silent_p.F536F|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Silent_p.F700F|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1400	Collagen-like 16.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGAATCCTTGGAAACCTGTCA	0.358000														76			28		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140201489	140201489	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140201489C>T	uc003lhl.2	+	0	129	c.129C>T	c.(127-129)ttC>ttT	p.F43F	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_uc003lhk.1_Silent_p.F43F|PCDHAC2_uc003lhj.1_Silent_p.F43F	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	57	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGAACCTTCGTTGGCCGCA	0.667000														127			28		0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279445	73279445	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:73279445C>T	uc003tzk.2	+	1	231	c.195C>T	c.(193-195)ccC>ccT	p.P65P	WBSCR28_uc003tzl.2_5'UTR	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	65						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				CCCACCTACCCCTGGGAGCTG	0.632000														185			43		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7720897	7720897	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7720897C>T	uc002giu.1	+	64	10053	c.10039C>T	c.(10039-10041)Cct>Tct	p.P3347S	DNAH2_uc010cnm.1_Missense_Mutation_p.P285S	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3347					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCTTCAGGTTCCTTGCTCCCC	0.537000														63			70		0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026917	182026917	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:182026917C>T	uc001goz.3	-	1	437	c.229G>A	c.(229-231)Gag>Aag	p.E77K	ZNF648_uc021pfu.1_Missense_Mutation_p.E77K	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E77D(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TTCTCTTCCTCTTTGCCCAGT	0.557000														53			19		0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288811	125288811	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125288811G>A	uc004bmn.1	-	0	762	c.762C>T	c.(760-762)ttC>ttT	p.F254F		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F254F(2)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGTAGGCACTGAAGAGGGTCC	0.542000														40			25		0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28619626	28619626	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:28619626C>T	uc002dqn.3	-	6	1223	c.631G>A	c.(631-633)Gat>Aat	p.D211N	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.D120N|SULT1A1_uc002dqi.3_Missense_Mutation_p.D120N|SULT1A1_uc002dqk.3_Missense_Mutation_p.D120N|SULT1A1_uc002dql.3_Missense_Mutation_p.D120N|SULT1A1_uc002dqm.3_Intron|SULT1A1_uc002dqp.3_Missense_Mutation_p.D120N	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	120					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						ACCTTCTGATCCAACAGAGTC	0.577000														110			28		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2959084	2959084	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:2959084C>T	uc003smv.3	-	17	2766	c.2432G>A	c.(2431-2433)aGg>aAg	p.R811K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	811					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)		CCACTCGTGCCTGTCCTGGTA	0.607000			Mis		DLBCL									48			27		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364016	22364016	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22364016G>A	uc002nqs.1	-	2	821	c.503C>T	c.(502-504)tCc>tTc	p.S168F		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	168					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)				ACATTTGTAGGAATTCTCTCT	0.338000														82			37		0	0	1	0	0
MLL5	55904	broad.mit.edu	37	7	104703895	104703895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:104703895C>T	uc003vcm.3	+	4	818	c.284C>T	c.(283-285)cCt>cTt	p.P95L	MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Missense_Mutation_p.P95L|MLL5_uc003vcl.3_Missense_Mutation_p.P95L|MLL5_uc010ljc.3_Missense_Mutation_p.P95L	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	95					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						TTTACCACTCCTAATTTTGAT	0.438000														101			37		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22134151	22134151	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22134151C>T	uc010tmd.2	+	0	855	c.855C>T	c.(853-855)ttC>ttT	p.F285F		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TGAATCCCTTCATTTACACCT	0.453000														71			16		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76395319	76395319	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:76395319C>T	uc021rkq.1	+	13	2549	c.2214C>T	c.(2212-2214)tcC>tcT	p.S738S	LMO7_uc010thv.2_Silent_p.S456S|LMO7_uc001vjt.1_Silent_p.S404S|LMO7_uc001vjv.3_Silent_p.S505S|LMO7_uc010thw.2_Silent_p.S355S|LMO7_uc001vjw.1_Silent_p.S411S	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	790						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TAAGGGAATCCCAAAATCAAA	0.453000														31			12		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65623988	65623988	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65623988G>A	uc002aos.2	-	7	1410	c.1158C>T	c.(1156-1158)acC>acT	p.T386T	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	386	Ig-like C2-type 4.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCCAGAAATGGTCAGTGTGC	0.547000														20			11		0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9408050	9408050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9408050G>A	uc002mlc.1	-	3	392	c.392C>T	c.(391-393)tCc>tTc	p.S131F		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	Homo sapiens zinc finger protein 699 (ZNF699), mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S131F(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGAGAACCAGGAATCATTCCT	0.363000														45			34		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36872942	36872942	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36872942G>A	uc003cgj.3	-	20	8248	c.8000C>T	c.(7999-8001)tCc>tTc	p.S2667F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2667					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGCTTTTGGGAAAGAATGGT	0.542000														14			4		0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187172781	187172781	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187172781C>T	uc003iyy.3	+	8	1080	c.1009C>T	c.(1009-1011)Cca>Tca	p.P337S	KLKB1_uc011clc.2_Missense_Mutation_p.P135S|KLKB1_uc011cld.2_Missense_Mutation_p.P299S	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	337	Apple 4.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTCTTTACTCCCAGAAGACTG	0.363000														80			27		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34123547	34123547	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34123547G>A	uc001bxm.1	-	27	4624	c.4447_splice	c.e27+1	p.A1483_splice	CSMD2_uc001bxn.1_Splice_Site_p.A1443_splice|CSMD2_uc001bxo.1_Splice_Site_p.A356_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1443	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTTTGTACCGATGCATGTTG	0.587000														83			27		0	0	1	0	0
TMEM133	83935	broad.mit.edu	37	11	100863137	100863138	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:100863137_100863138CC>TT	uc001pgf.3	+	0	327_328	c.98_99CC>TT	c.(97-99)ccc>cTT	p.P33L		NM_032021	NP_114410	Q9H2Q1	TM133_HUMAN	Homo sapiens transmembrane protein 133 (TMEM133), mRNA.	33						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		GTTACTTTCCCCTTGACTAAAG	0.426000														99			32		0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51771684	51771684	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:51771684C>T	uc001csl.3	-	6	766	c.661G>A	c.(661-663)Gga>Aga	p.G221R	TTC39A_uc001csk.3_Missense_Mutation_p.G186R|TTC39A_uc010ond.2_Missense_Mutation_p.G158R|TTC39A_uc010one.2_Missense_Mutation_p.G185R|TTC39A_uc010onf.2_Missense_Mutation_p.G189R|TTC39A_uc001csn.3_Missense_Mutation_p.G220R|TTC39A_uc001cso.1_Missense_Mutation_p.G217R|TTC39A_uc009vyy.1_Missense_Mutation_p.G158R	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	221							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TTCACTCCTCCTTCAAAGTGC	0.562000														78			34		0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916067	149916067	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:149916067G>A	uc001etn.3	-	11	2577	c.2221C>T	c.(2221-2223)Ccc>Tcc	p.P741S		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	741					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TCCTGGTGGGGGTAGGGTCGC	0.637000														40			24		0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124528957	124528957	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:124528957C>T	uc004bln.3	+	8	1630	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C	DAB2IP_uc004blo.3_Missense_Mutation_p.R425C|DAB2IP_uc004blp.3_5'Flank	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	549	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCGCACTGCCCGCACCCTCAC	0.627000														184			25		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74015056	74015056	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74015056C>T	uc010wss.1	-	10	1451	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	EVPL_uc002jqi.2_Missense_Mutation_p.R408Q|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	408	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGGTTTCTTCGCTGTGGCAG	0.682000														13			4		0	0	1	0	0
MFSD7	84179	broad.mit.edu	37	4	680390	680390	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:680390G>A	uc003gay.3	-	1	282	c.225C>T	c.(223-225)taC>taT	p.Y75Y	MFSD7_uc003gaw.3_5'Flank|MFSD7_uc003gax.3_Silent_p.Y75Y|MFSD7_uc003gaz.3_Silent_p.Y53Y	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.	75					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						ATACCACGAGGTAGACCAGTG	0.627000														79			24		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123989933	123989933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:123989933C>T	uc001lfv.3	+	15	8465	c.8105C>T	c.(8104-8106)tCc>tTc	p.S2702F	TACC2_uc001lfw.3_Missense_Mutation_p.S848F|TACC2_uc009xzx.3_Intron|TACC2_uc010qtv.2_Intron|TACC2_uc001lfx.3_Intron|TACC2_uc001lfy.3_Intron|TACC2_uc001lfz.3_Missense_Mutation_p.S780F|TACC2_uc001lga.3_Intron|TACC2_uc009xzy.3_Intron|TACC2_uc001lgb.3_Intron	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2702						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)				GCTTTGGCTTCCCGCAGCCAC	0.592000														66			32		0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205197795	205197796	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205197795_205197796CC>TT	uc021pia.1	+	0	758_759	c.103_104CC>TT	c.(103-105)cct>TTt	p.P35F	TMCC2_uc010prf.2_5'Flank	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	35						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGACCTCCGGCCTGGGGAGACC	0.673000														27			17		0	0	1	0	0
ATP8B5P	158381	broad.mit.edu	37	9	35449604	35449604	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35449604C>T	uc010mko.3	+	10		c.1014C>T			ATP8B5P_uc010mkp.3_Non-coding_Transcript|ATP8B5P_uc010mkn.2_Intron|ATP8B5P_uc003zwu.2_Intron					Homo sapiens ATPase, class I, type 8B, member 5, pseudogene (ATP8B5P), transcript variant 2, non-coding RNA.																		AGACATACTTCCCTTCCTTTC	0.353000														7			3		0	0	1	0	0
SPSB1	80176	broad.mit.edu	37	1	9416153	9416153	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:9416153A>G	uc010oae.2	+	1	542	c.203A>G	c.(202-204)aAg>aGg	p.K68R	SPSB1_uc001apv.3_Missense_Mutation_p.K68R	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA.	68	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GTCTTTGTGAAGGAGGACGAC	0.577000														165			51		0	0	1	0	0
TMEM82	388595	broad.mit.edu	37	1	16069654	16069654	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16069654C>T	uc001axc.3	+	2	439	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	Homo sapiens transmembrane protein 82 (TMEM82), mRNA.	101	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGAGTTCTCCCTCCGGGCCGT	0.711000														26			13		0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800647	21800647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:21800647C>T	uc002zur.4	+	2	1693	c.1463C>T	c.(1462-1464)gCc>gTc	p.A488V	HIC2_uc002zus.4_Missense_Mutation_p.A488V	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	488					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GAGGAGGAGGCCGAGGACCTG	0.642000														43			11		0	0	1	0	0
TEX19	400629	broad.mit.edu	37	17	80320289	80320289	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:80320289G>A	uc002keq.3	+	1	573	c.263G>A	c.(262-264)gGa>gAa	p.G88E	TEX19_uc021ufp.1_Missense_Mutation_p.G88E	NM_207459	NP_997342	Q8NA77	TEX19_HUMAN	Homo sapiens testis expressed 19 (TEX19), mRNA.	88						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						CAGAGCCCAGGACAGCCTGTG	0.647000														58			13		0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62126323	62126323	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62126323C>T	uc002yfe.1	-	3	622	c.456G>A	c.(454-456)gtG>gtA	p.V152V		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	152						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CCATTTTGTTCACGCCCACGA	0.607000														96			13		0	0	1	0	0
MPZL2	10205	broad.mit.edu	37	11	118133292	118133292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118133292C>T	uc001psn.3	-	2	680	c.297G>A	c.(295-297)ggG>ggA	p.G99G	MPZL2_uc001pso.3_Silent_p.G99G	NM_005797	NP_658911	O60487	MPZL2_HUMAN	Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA.	99	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GCTCAGGATTCCCATCCCAAG	0.517000														59			5		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126079218	126079218	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:126079218G>A	uc003vlr.2	-	9	2993	c.2682C>T	c.(2680-2682)tcC>tcT	p.S894S	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_3'UTR|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	894					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S894F(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCTTGGTAGAGGAAGCTGTTA	0.289000										HNSCC(24;0.065)				122			55		0	0	1	0	0
RHOXF1	158800	broad.mit.edu	37	X	119249615	119249615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:119249615C>T	uc004esk.1	-	0	233	c.158G>A	c.(157-159)gGt>gAt	p.G53D	AK123976_uc004esi.1_Intron	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Homo sapiens Rhox homeobox family, member 1 (RHOXF1), mRNA.	53					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GTGGTTCACACCGCCCTCAGG	0.642000														30			42		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19411897	19411897	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19411897C>T	uc010tcj.1	-	0		c.34213G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		gagatcccaccactgcactcc	0.507000														29			16		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41758873	41758873	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41758873G>A	uc010ehj.3	+	16	2116	c.1926_splice	c.e16+1	p.V642_splice	AXL_uc010ehk.3_Splice_Site_p.V633_splice	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	642	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CCAGCCAGTGGTAAGGGGCGT	0.517000														65			16		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107221	14107221	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:14107221C>T	uc001avi.3	+	7	3787	c.2931C>T	c.(2929-2931)ccC>ccT	p.P977P	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Silent_p.P977P|PRDM2_uc021ogk.1_Silent_p.P740P|PRDM2_uc001avk.3_Silent_p.P776P|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	977	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CACCCTGTCCCCCGGTATTAA	0.607000														179			18		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92600089	92600089	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92600089C>T	uc001pdj.4	+	20	11858	c.11841C>T	c.(11839-11841)ttC>ttT	p.F3947F	FAT3_uc001pdi.4_Silent_p.F387F	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3947	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCTCTACTTCCAGACGCTGA	0.632000										TCGA Ovarian(4;0.039)				27			6		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993545	140993545	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140993545C>T	uc004fbt.3	+	3	679	c.355C>T	c.(355-357)Cct>Tct	p.P119S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	119							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)					TCAGAGCCCTCCTGAGGGTGA	0.522000										HNSCC(15;0.026)				57			40		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73678921	73678921	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:73678921C>T	uc002sje.1	+	7	5375	c.5264C>T	c.(5263-5265)tCc>tTc	p.S1755F	ALMS1_uc002sjf.1_Missense_Mutation_p.S1713F|ALMS1_uc002sjg.3_Missense_Mutation_p.S1143F|ALMS1_uc002sjh.1_Missense_Mutation_p.S1143F	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1755	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACTGTAACTTCCTCTTTCTAT	0.433000														138			14		0	0	1	0	0
SNX8	29886	broad.mit.edu	37	7	2297376	2297376	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:2297376G>A	uc003slw.3	-	7	1021	c.978C>T	c.(976-978)tcC>tcT	p.S326S		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	Homo sapiens sorting nexin 8 (SNX8), mRNA.	326					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		TCACCTTATAGGACTGCAGCA	0.567000														273			67		0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11918493	11918493	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11918493C>T	uc001atj.3	-	1	268	c.166G>A	c.(166-168)Gag>Aag	p.E56K		NM_002521	NP_002512	P16860	ANFB_HUMAN	Homo sapiens natriuretic peptide B (NPPB), mRNA.	56					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	ACCTGCAGCTCCGACAGTTTG	0.657000														31			17		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067218	190067218	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:190067218G>A	uc001gse.1	-	7	2463	c.2231C>T	c.(2230-2232)tCt>tTt	p.S744F	FAM5C_uc010pot.1_Missense_Mutation_p.S642F	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	744						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)					CTGCAGAGCAGATTGGATCCT	0.428000														109			47		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921209	24921209	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24921209C>T	uc001ywo.3	+	0	669	c.195C>T	c.(193-195)ttC>ttT	p.F65F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	65					cell differentiation|multicellular organismal development|spermatogenesis			p.F65F(2)		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)		CCAGCATCTTCGTCGCCCCTA	0.721000														35			11		0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14001207	14001207	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:14001207G>A	uc002mxl.1	-	5	521	c.462C>T	c.(460-462)ccC>ccT	p.P154P	C19orf57_uc002mxk.1_Silent_p.P36P	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	154					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCTCCTGGAGGGGGACCCCCA	0.682000														48			22		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034098	52034098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52034098G>A	uc002pwy.3	-	2	751	c.543C>T	c.(541-543)tcC>tcT	p.S181S	SIGLEC6_uc002pwz.3_Silent_p.S181S|SIGLEC6_uc010ydb.2_Silent_p.S145S|SIGLEC6_uc010ydc.2_Silent_p.S181S|SIGLEC6_uc002pxa.3_Silent_p.S181S|SIGLEC6_uc010eoz.2_Silent_p.S170S|SIGLEC6_uc010epa.2_Silent_p.S170S|SIGLEC6_uc010epb.2_Silent_p.S134S	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	181	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CTGACATCCAGGAGAAGATGG	0.652000														100			34		0	0	1	0	0
NEUROG1	4762	broad.mit.edu	37	5	134870797	134870797	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:134870797G>A	uc003lax.3	-	0	843	c.584C>T	c.(583-585)cCg>cTg	p.P195L		NM_006161	NP_006152	Q92886	NGN1_HUMAN	Homo sapiens neurogenin 1 (NEUROG1), mRNA.	195					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCAGAGAGCGGGGAGGCGGC	0.716000														40			6		0	0	1	0	0
KPTN	11133	broad.mit.edu	37	19	47986450	47986450	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47986450G>A	uc002pgy.3	-	3	521	c.417C>T	c.(415-417)ctC>ctT	p.L139L	KPTN_uc010xys.2_Non-coding_Transcript|LOC100505681_uc021uwo.1_5'Flank	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	Homo sapiens kaptin (actin binding protein) (KPTN), mRNA.	139					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		GAGTGAACTGGAGCTCCAGGT	0.612000														177			81		0	0	1	0	0
OR11H1	81061	broad.mit.edu	37	22	16449127	16449127	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:16449127G>A	uc011agd.2	-	0	678	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 1 (OR11H1), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		TAATAAAGAGGAAGTTACCAA	0.433000														119			56		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45387767	45387767	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45387767C>T	uc001zun.3	-	30	4310	c.4107G>A	c.(4105-4107)gaG>gaA	p.E1369E	DUOX2_uc010bea.3_Silent_p.E1369E	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1369	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCTGATGGCCCTCTCCAAACG	0.562000														60			23		0	0	1	0	0
PLOD2	5352	broad.mit.edu	37	3	145806495	145806495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:145806495G>A	uc003evr.1	-	8	1389	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	PLOD2_uc003evq.1_5'Flank|PLOD2_uc011bnm.1_Missense_Mutation_p.H240Y|PLOD2_uc003evs.1_Missense_Mutation_p.H295Y	NM_182943	NP_891988	O00469	PLOD2_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA.	295					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	ACGTTTGGATGGACCTTTGTT	0.308000														52			9		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102337514	102337514	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:102337514G>A	uc003pqp.4	+	11	1818	c.1525_splice	c.e11-1	p.K509_splice	GRIK2_uc003pqn.3_Splice_Site_p.K509_splice|GRIK2_uc010kcw.3_Splice_Site_p.K509_splice|GRIK2_uc003pqo.4_Splice_Site_p.K509_splice|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	509					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)	TCTGTCTACAGAAAGCTGACC	0.318000														43			9		0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61387373	61387373	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61387373C>T	uc002ljk.4	+	6	770	c.599C>T	c.(598-600)cCt>cTt	p.P200L	SERPINB11_uc010xes.2_Missense_Mutation_p.P26L|SERPINB11_uc010dqd.3_Missense_Mutation_p.P87L|SERPINB11_uc002ljj.4_Missense_Mutation_p.P87L|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	201					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTTAAAAGTCCTTTTCAGCTA	0.328000														49			4		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412344	51412344	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:51412344C>T	uc001nhi.2	-	0	105	c.52G>A	c.(52-54)Gat>Aat	p.D18N		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACACCAGGATCCTGAGAAAAG	0.428000														38			16		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17228395	17228395	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:17228395G>A	uc002dfa.3	-	8	2047	c.1962C>T	c.(1960-1962)tcC>tcT	p.S654S		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	654					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGCGGGCAAAGGAGTGGTACA	0.622000														72			25		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388705	48388705	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48388705C>T	uc001jez.3	-	0	2287	c.2173G>A	c.(2173-2175)Gag>Aag	p.E725K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	725	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TAGGTGAGCTCCTCTGGAGAG	0.617000														34			23		0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094342	46094342	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46094342C>T	uc002pcm.3	-	1	1728	c.783G>A	c.(781-783)gaG>gaA	p.E261E	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.E261E	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	261						integral to plasma membrane	G-protein coupled receptor activity	p.E261*(3)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		AGACGCGCTCCTCGAAGCCGC	0.637000														57			8		0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58314292	58314292	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:58314292C>T	uc002enf.3	-	6	1419	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	PRSS54_uc002eng.3_Missense_Mutation_p.E342K|PRSS54_uc010vie.2_Missense_Mutation_p.E243K|CCDC113_uc002ene.3_3'UTR|CCDC113_uc010vid.2_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	342					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGCCTGATTCCTTTACATCC	0.473000														70			24		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	166958581	166958581	+	Nonstop_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:166958581T>A	uc011bpc.2	-	21	2857	c.2520A>T	c.(2518-2520)taA>taT	p.*840Y	ZBBX_uc003feq.3_Nonstop_Mutation_p.*772Y|ZBBX_uc003fep.3_Nonstop_Mutation_p.*801Y	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	0						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CAAATAATCTTTAAGTACTCT	0.388000														90			34		0	0	1	0	0
UBE2MP1	606551	broad.mit.edu	37	16	34404409	34404409	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:34404409C>T	uc002edv.1	-	0		c.354G>A								Homo sapiens ubiquitin-conjugating enzyme E2M pseudogene 1 (UBE2MP1), non-coding RNA.																		TTGTAGAAGCCCTCATCAGGA	0.502000														60			23		0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70260694	70260694	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70260694C>T	uc001opv.4	+	5	544	c.338C>T	c.(337-339)tCg>tTg	p.S113L	CTTN_uc001opu.3_Missense_Mutation_p.S113L|CTTN_uc001opw.4_Missense_Mutation_p.S113L	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	113						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AAGCACTGCTCGCAGGTGGAC	0.552000														97			28		0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116836979	116836979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:116836979C>T	uc003pwy.3	+	1	809	c.757C>T	c.(757-759)Cct>Tct	p.P253S	BET3L_uc011ebh.2_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA.	253						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		GAGGCCAGATCCTTTTCCCAT	0.478000														38			38		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147498554	147498554	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:147498554G>A	uc003lox.2	+	23	2319	c.2246G>A	c.(2245-2247)aGa>aAa	p.R749K	SPINK5_uc010jgs.1_Missense_Mutation_p.R721K|SPINK5_uc010jgr.2_Missense_Mutation_p.R730K|SPINK5_uc003low.2_Missense_Mutation_p.R749K|SPINK5_uc003loy.2_Missense_Mutation_p.R749K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	749	Kazal-like 11.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGGGAAAGAGAAGCAGAG	0.403000														100			11		0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46868965	46868965	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:46868965C>T	uc021tzm.1	-	9	1034	c.999_splice	c.e9-1	p.R333_splice	TTLL6_uc002iob.3_Splice_Site_p.R26_splice|TTLL6_uc010dbi.3_Splice_Site|TTLL6_uc002ioc.3_Splice_Site_p.R86_splice|TTLL6_uc002iod.3_Splice_Site_p.R180_splice	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	285	TTL.					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGGAGAGCTTCCTGGAAGGGA	0.562000											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			19		0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156757929	156757929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:156757929G>A	uc003ipe.1	-	7	1194	c.1147C>T	c.(1147-1149)Ccg>Tcg	p.P383S		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	383						integral to membrane|plasma membrane											ATAGTGGCCGGGTATTCTATT	0.363000														97			43		0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168073894	168073894	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:168073894G>A	uc010pln.2	-	2	789	c.255C>T	c.(253-255)ttC>ttT	p.F85F	GPR161_uc001gfb.3_Intron|GPR161_uc001gfc.3_Silent_p.F65F|GPR161_uc010pll.2_Intron|GPR161_uc010plm.2_Intron|GPR161_uc009wvo.3_Silent_p.F82F|GPR161_uc001gfd.3_Silent_p.F65F|GPR161_uc001gfe.1_Silent_p.F65F	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	65					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F65F(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GGCTGAAGACGAACTTGTTGC	0.517000														84			47		0	0	1	0	0
HEXA	3073	broad.mit.edu	37	15	72638913	72638914	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72638913_72638914GG>AA	uc002aun.4	-	10	1491_1492	c.1284_1285CC>TT	c.(1282-1287)ggccct>ggTTct	p.P429S	BC034424_uc002aug.3_Non-coding_Transcript|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Missense_Mutation_p.P440S|HEXA_uc010bix.3_Missense_Mutation_p.P429S|HEXA_uc010biy.2_Missense_Mutation_p.P292S|HEXA_uc010uko.1_Missense_Mutation_p.P255S	NM_000520	NP_000511	P06865	HEXA_HUMAN	Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.	429					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						TTCCAGTCAGGGCCATAGGATA	0.535000														206			111		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115335717	115335717	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115335717C>T	uc001lai.4	+	3	388	c.285C>T	c.(283-285)ttC>ttT	p.F95F	HABP2_uc021pyr.1_Silent_p.F69F|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Missense_Mutation_p.S84L	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	95	EGF-like 1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		GGAGCACCTTCACATGCAGCT	0.527000														145			39		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102212	168102212	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:168102212G>A	uc002udx.3	+	8	4399	c.4310G>A	c.(4309-4311)cGa>cAa	p.R1437Q	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R1262Q|XIRP2_uc010fpq.3_Missense_Mutation_p.R1215Q|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1262					actin cytoskeleton organization	cell junction	actin binding	p.R1437*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACTATATACGAACAGTAAGT	0.338000														53			13		0	0	1	0	0
TSKU	25987	broad.mit.edu	37	11	76507492	76507492	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:76507492C>T	uc021qno.1	+	0	832	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	TSKU_uc001oxt.3_Silent_p.L278L	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	278						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GTTTTCAGGCCTGAGCTCCCT	0.672000														59			18		0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39974733	39974733	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39974733G>A	uc002hxv.2	+	3	1006	c.681G>A	c.(679-681)agG>agA	p.R227R	FKBP10_uc002hxw.1_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	227	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GAGAGAGAAGGAAGATTATCA	0.557000														18			9		0	0	1	0	0
ADRA2C	152	broad.mit.edu	37	4	3769561	3769561	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:3769561G>A	uc003ghm.3	+	0	1266	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K		NM_000683	NP_000674	P18825	ADA2C_HUMAN	Homo sapiens adrenergic, alpha-2C-, receptor (ADRA2C), mRNA.	410					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CATCTGCCGCGAGGCCTGCCA	0.592000														26			18		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51839476	51839476	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51839476G>A	uc010ufy.2	-	6	922	c.697C>T	c.(697-699)Cga>Tga	p.R233*	DMXL2_uc002abf.3_Nonsense_Mutation_p.R233*|DMXL2_uc010bfa.3_Nonsense_Mutation_p.R233*	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	233						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.R233Q(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTCACAGCTCGGGGATGTGCC	0.383000														82			28		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171584	150171584	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150171584C>T	uc003whj.3	+	3	1497	c.1167C>T	c.(1165-1167)atC>atT	p.I389I		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	389						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)		ATGGTCTCATCCAGAAGTGTA	0.428000														173			42		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32624481	32624481	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:32624481C>T	uc002yow.1	-	5	1460	c.988G>A	c.(988-990)Gag>Aag	p.E330K	TIAM1_uc011adk.1_Missense_Mutation_p.E330K|TIAM1_uc011adl.1_Missense_Mutation_p.E330K|TIAM1_uc002yox.1_5'UTR	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	330					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCTGCAAACTCACTGCCCTCG	0.572000														233			74		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263426	140263426	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140263426C>T	uc003lif.2	+	0	1573	c.1573C>T	c.(1573-1575)Cac>Tac	p.H525Y	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.H525Y|PCDHAC2_uc003lid.3_Missense_Mutation_p.H525Y	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	539	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGTTGGACCACGAGGAGCT	0.682000														193			18		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38924684	38924684	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38924684G>A	uc003jln.2	+	13	2433	c.2031G>A	c.(2029-2031)aaG>aaA	p.K677K	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	677	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GATTTGAAAAGGCAGTTCTTT	0.363000														115			43		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631951	32631951	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:32631951G>A	uc003zrg.1	-	0	3717	c.3627C>T	c.(3625-3627)gtC>gtT	p.V1209V	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.	1209					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)		AGGCATCAATGACAGCTGGTT	0.428000														96			61		0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42082636	42082636	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42082636C>T	uc002ore.4	+	0	106	c.10C>T	c.(10-12)Ccc>Tcc	p.P4S	CEACAM21_uc002orc.1_Intron|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Missense_Mutation_p.P4S	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	4						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CATGGGGCCCCCCTCAGCTTG	0.622000														43			10		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9402046	9402046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9402046C>T	uc021wam.1	+	22	2236	c.2221C>T	c.(2221-2223)Cgc>Tgc	p.R741C	PLCB4_uc010gbw.1_Missense_Mutation_p.R741C|PLCB4_uc010gbx.3_Missense_Mutation_p.R753C|PLCB4_uc021wal.1_Missense_Mutation_p.R741C|PLCB4_uc002wnh.3_Missense_Mutation_p.R588C	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	741	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTCCGAACTCGCATGGTTAT	0.388000														72			28		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56089407	56089407	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56089407C>A	uc001shh.3	-	13	2134	c.1914G>T	c.(1912-1914)aaG>aaT	p.K638N	ITGA7_uc001shg.3_Missense_Mutation_p.K634N|ITGA7_uc010sps.2_Missense_Mutation_p.K541N|ITGA7_uc009znw.3_5'UTR|ITGA7_uc009znx.3_Missense_Mutation_p.K515N	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	678					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CACAGCCTTGCTTCAGGAAGT	0.572000														57			20		1.10923e-09	1.11296e-09	1	1	0
RAB3B	5865	broad.mit.edu	37	1	52442595	52442595	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:52442595G>A	uc001cth.3	-	1	408	c.195C>T	c.(193-195)taC>taT	p.Y65Y		NM_002867	NP_002858	P20337	RAB3B_HUMAN	Homo sapiens RAB3B, member RAS oncogene family (RAB3B), mRNA.	65					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						TCTCGTGACGGTAGACTGTCT	0.562000														59			26		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48741088	48741088	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:48741088G>A	uc001zwx.2	-	45	5943	c.5548C>T	c.(5548-5550)Cgt>Tgt	p.R1850C	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1850	EGF-like 31; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CATTCATTACGATCTGTAAAT	0.348000														36			17		0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	132952778	132952778	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:132952778C>T	uc003yte.3	+	1	247	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	15						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTTGCGTCCTCGCTACAAACG	0.408000														13			13		0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031756	32031756	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:32031756G>A	uc011axg.2	+	1	1734	c.1185G>A	c.(1183-1185)ggG>ggA	p.G395G	ZNF860_uc021wuv.1_Silent_p.G395G	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G395G(3)		endometrium(3)|lung(4)|ovary(1)	8						ATGGTATAGGGAAACTTTATA	0.373000														78			18		0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7727852	7727852	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7727852G>A	uc003mxu.4	+	1	842	c.664_splice	c.e1+1	p.V222_splice		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	222					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TGTGAACCTGGGTAAGGATTT	0.647000														25			7		0	0	1	0	0
AK300121	0	broad.mit.edu	37	12	52648068	52648068	+	Silent	SNP	C	T	T	rs141667919	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52648068C>T	uc010snr.1	-	3	564	c.216G>A	c.(214-216)agG>agA	p.R72R	KRT86_uc010snq.2_Intron					SubName: Full=cDNA FLJ60029, highly similar to Keratin, type II cuticular Hb3;																		CATATAGCCGCCTCAGGAAGT	0.547000														41			16		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634419	70634419	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70634419A>G	uc001xly.3	-	1	1475	c.721T>C	c.(721-723)Ttt>Ctt	p.F241L	SLC8A3_uc001xlw.3_Missense_Mutation_p.F241L|SLC8A3_uc001xlx.3_Missense_Mutation_p.F241L|SLC8A3_uc001xlz.3_Missense_Mutation_p.F241L|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	241					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CACACTGGAAAGAAGAAGAGA	0.483000														42			18		0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19642357	19642357	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:19642357C>T	uc002gwk.3	-	6	1782	c.1519G>A	c.(1519-1521)Gat>Aat	p.D507N	ALDH3A1_uc010cqu.3_Missense_Mutation_p.D390N|ALDH3A1_uc010vzd.2_Missense_Mutation_p.D390N|ALDH3A1_uc002gwj.3_Missense_Mutation_p.D390N|ALDH3A1_uc010cqv.3_Missense_Mutation_p.D389N|ALDH3A1_uc002gwl.1_Missense_Mutation_p.D317N			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	390					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	ACGATGACATCGTTGGCCGCC	0.632000														13			18		0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72840925	72840925	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:72840925G>A	uc004ahm.2	+	13	2655	c.2038G>A	c.(2038-2040)Gac>Aac	p.D680N	MAMDC2_uc004ahn.2_Non-coding_Transcript|LOC100507299_uc004ahq.1_Intron|LOC100507299_uc022bhz.1_Intron	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	680						endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						ATATTCTGAGGACTTAAATGA	0.274000														68			14		0	0	1	0	0
AK300387	0	broad.mit.edu	37	16	32192678	32192678	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:32192678G>A	uc010vfv.1	-	4		c.668C>T								Homo sapiens cDNA FLJ60890 complete cds, moderately similar to HECT domain and RCC1-like domain-containing protein 2.																		GGCGTTCCGTGAACATCCCTG	0.542000														10			8		0	0	1	0	0
HOXA13	3209	broad.mit.edu	37	7	27238925	27238925	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:27238925G>A	uc003szb.1	-	0	801	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F	HOTTIP_uc022aau.1_5'Flank	NM_000522	NP_000513	P31271	HXA13_HUMAN	Homo sapiens homeobox A13 (HOXA13), mRNA.	258					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GGGCCCCCGAGGCCCGGCACC	0.657000			T	NUP98	AML									31			13		0	0	1	0	0
S100A8	6279	broad.mit.edu	37	1	153362973	153362973	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153362973G>A	uc001fbs.3	-	1	209	c.39C>T	c.(37-39)atC>atT	p.I13I		NM_002964	NP_002955	P05109	S10A8_HUMAN	Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.	13	EF-hand 1.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	p.I12I(1)		breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTAGACGTCGATGATAGAGT	0.498000														146			68		0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168066361	168066361	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:168066361G>A	uc010pln.2	-	3	1078	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S	GPR161_uc001gfb.3_Missense_Mutation_p.P30S|GPR161_uc001gfc.3_Missense_Mutation_p.P162S|GPR161_uc010pll.2_Missense_Mutation_p.P72S|GPR161_uc010plm.2_Missense_Mutation_p.P48S|GPR161_uc009wvo.3_Missense_Mutation_p.P179S|GPR161_uc001gfd.3_Missense_Mutation_p.P162S|GPR161_uc001gfe.1_Missense_Mutation_p.P162S	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	162					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCAAACAGGGGTGGCAGGCAG	0.572000														54			26		0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90254384	90254384	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90254384C>T	uc004apc.3	+	4	677	c.539C>T	c.(538-540)aCt>aTt	p.T180I	DAPK1_uc004ape.3_Missense_Mutation_p.T180I|DAPK1_uc004apd.3_Missense_Mutation_p.T180I|DAPK1_uc011ltg.2_Missense_Mutation_p.T180I|DAPK1_uc011lth.2_5'UTR	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	180	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ATATTTGGGACTCCAGAGTTT	0.398000									Chronic Lymphocytic Leukemia, Familial Clustering of					101			26		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6483972	6483972	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:6483972C>T	uc001iji.1	-	14	1902	c.1818G>A	c.(1816-1818)ctG>ctA	p.L606L	PRKCQ_uc001ijj.2_Silent_p.L573L|PRKCQ_uc009xim.2_Intron|PRKCQ_uc009xin.2_Silent_p.L537L|PRKCQ_uc010qax.2_Silent_p.L448L	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	573	Protein kinase.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ACTGACCAATCAGCATTTCAT	0.517000														67			29		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21309123	21309123	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:21309123G>A	uc001iqk.3	-	2	526	c.172C>T	c.(172-174)Ccg>Tcg	p.P58S	NEBL_uc021pnu.1_Missense_Mutation_p.P58S	NM_213569	NP_998734	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 2, mRNA.	720				RYKEEFKK -> VIKKSLKS (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GACTGCTTCGGGTAGTGTCTG	0.413000														104			8		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51729288	51729288	+	Silent	SNP	C	T	T	rs141510568	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51729288C>T	uc002pwa.2	+	2	688	c.648C>T	c.(646-648)ttC>ttT	p.F216F	CD33_uc010eos.1_Silent_p.F216F|CD33_uc010eot.1_Silent_p.F89F|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	216	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AGGTGAAGTTCGCTGGAGCTG	0.627000														37			16		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88764104	88764104	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:88764104C>T	uc001kee.2	+	9	1241	c.37C>T	c.(37-39)Cat>Tat	p.H13Y	AGAP11_uc001kef.3_Non-coding_Transcript	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	13					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GATACATCATCATATCACGGA	0.373000														235			100		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84605985	84605985	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:84605985C>T	uc004amn.3	+	3	647	c.600C>T	c.(598-600)ctC>ctT	p.L200L		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	200	Pro-rich.					integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CCTTAATTCTCTCACCTGACC	0.552000														75			44		0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584424	1584424	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:1584424C>T	uc022brv.1	-	0	1028	c.1028G>A	c.(1027-1029)gGg>gAg	p.G343E	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.G343E	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	343						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCCTCCATCCCTTCAGGGTG	0.711000			T	CRLF2	"""B-ALL, Downs associated ALL"""									81			33		0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35556516	35556516	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35556516C>T	uc002nxq.2	+	11	1226	c.981C>T	c.(979-981)ttC>ttT	p.F327F	HPN_uc002nxr.2_Silent_p.F327F|HPN_uc010xsh.1_Silent_p.F296F|HPN_uc002nxt.1_Silent_p.F211F|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	327	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GCGCTGACTTCTATGGAAACC	0.602000														70			38		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424593	56424593	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56424593C>T	uc010ygg.2	-	4	615	c.590G>A	c.(589-591)tGg>tAg	p.W197*		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	197							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTCTTTAGGCCAACTGATGTT	0.488000														168			12		0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455657	187455657	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187455657G>A	uc003izd.1	-	1	257	c.239C>T	c.(238-240)cCg>cTg	p.P80L		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	80					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	CAACGGGTACGGATAAATGGC	0.502000														49			21		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8420714	8420714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:8420714G>A	uc001ape.3	-	18	3663	c.2853C>T	c.(2851-2853)ctC>ctT	p.L951L	RERE_uc001apf.3_Silent_p.L951L|RERE_uc010nzx.1_Silent_p.L683L|RERE_uc001apd.3_Silent_p.L397L	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	951	Pro-rich.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGGGCCCCGAGAGGTGGGGAG	0.692000														51			18		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139189308	139189308	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:139189308G>A	uc003leu.1	+	1	488	c.283G>A	c.(283-285)Gag>Aag	p.E95K		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	95					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)			AGATTCAGCGGAGTCCAGGCC	0.612000														109			34		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135766	156135766	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:156135766G>A	uc003ioq.3	+	1	1164	c.675G>A	c.(673-675)ttG>ttA	p.L225L	NPY2R_uc003ior.3_Silent_p.L225L|NPY2R_uc021xtm.1_Silent_p.L225L	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	225					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CTTCCTTGTTGATCTTGTATG	0.443000														114			29		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109672146	109672146	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:109672146C>T	uc010agk.2	+	22	3305	c.2683C>T	c.(2683-2685)Ctc>Ttc	p.L895F	MYO16_uc001vqt.1_Missense_Mutation_p.L873F|MYO16_uc001vqu.1_Missense_Mutation_p.L673F|MYO16_uc010tjh.1_Missense_Mutation_p.L385F	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	873	Myosin head-like 2.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACTACAAAGTCTCCTAGAATC	0.423000														49			11		0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35381118	35381118	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35381118C>T	uc003zwr.3	+	17	2442	c.2150C>T	c.(2149-2151)gCc>gTc	p.A717V	UNC13B_uc003zwq.3_Missense_Mutation_p.A717V	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	717					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GACAAATCAGCCGTCTCAGGG	0.488000														34			6		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76868005	76868005	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:76868005G>A	uc001oyb.2	+	6	962	c.690G>A	c.(688-690)gcG>gcA	p.A230A	MYO7A_uc010rsl.2_Silent_p.A230A|MYO7A_uc010rsm.1_Silent_p.A219A|MYO7A_uc001oyc.2_Silent_p.A230A	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	230	Myosin head-like.				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						TCGAGGGCGCGAAGATTGAGC	0.582000														57			25		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119914839	119914839	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:119914839C>T	uc003vjj.1	+	0	1118	c.153C>T	c.(151-153)cgC>cgT	p.R51R		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	51					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.R51S(1)		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)					GTGGCACCCGCTTCCAGACGT	0.572000														291			17		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10081488	10081488	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10081488C>T	uc003buw.3	+	8	732	c.654C>T	c.(652-654)atC>atT	p.I218I	FANCD2_uc003bux.1_Silent_p.I218I|FANCD2_uc003buy.1_Silent_p.I218I|FANCD2_uc003buv.3_Silent_p.I218I	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	218	Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TACCTGAGATCCTAGGGGATT	0.512000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					81			18		0	0	1	0	0
PABPC1	26986	broad.mit.edu	37	8	101718929	101718929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:101718929G>A	uc003yjs.1	-	10	2056	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	PABPC1_uc011lhc.1_Missense_Mutation_p.R486C|PABPC1_uc011lhd.1_Missense_Mutation_p.R473C|PABPC1_uc003yjt.1_Missense_Mutation_p.R515C|PABPC1_uc003yju.2_Intron	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	518					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TGAGGATTGCGAACTCCTGCA	0.453000														74			36		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288840	107288840	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107288840G>A	uc011lvn.2	-	0	651	c.651C>T	c.(649-651)tcC>tcT	p.S217S		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGAACATATAGGAGAAAAAAA	0.408000														112			10		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144769802	144769802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:144769802C>T	uc003qkt.3	+	15	2061	c.1969C>T	c.(1969-1971)Cgt>Tgt	p.R657C	UTRN_uc010khq.1_Missense_Mutation_p.R657C	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	657	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.R657C(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGAGACTGTTCGTGTAAGAGA	0.423000														113			18		0	0	1	0	0
AK300387	0	broad.mit.edu	37	16	32190846	32190846	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:32190846G>A	uc010vfv.1	-	6		c.978C>T								Homo sapiens cDNA FLJ60890 complete cds, moderately similar to HECT domain and RCC1-like domain-containing protein 2.																		GGTACCTCAGGAAACTCTCAC	0.458000														32			6		0	0	1	0	0
BC043541	0	broad.mit.edu	37	1	43352829	43352829	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:43352829G>A	uc001cij.1	+	3		c.731G>A								Homo sapiens cDNA clone IMAGE:5170739.																		CCGCGTGGAGGAGCGGCGAGA	0.592000														16			10		0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6439002	6439002	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6439002G>A	uc001qnu.3	-	8	1302	c.999C>T	c.(997-999)ccC>ccT	p.P333P	TNFRSF1A_uc001qnt.3_Silent_p.P225P|TNFRSF1A_uc010sey.2_Silent_p.P101P|TNFRSF1A_uc010sez.2_Silent_p.P225P|TNFRSF1A_uc009zek.3_Silent_p.P290P	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	333					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GGTTGGGGATGGGGTCGGAGG	0.667000														6			5		0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185851	127185851	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:127185851G>A	uc004eum.3	-	0	532	c.335C>T	c.(334-336)tCt>tTt	p.S112F		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	112						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGGATTCAAAGAGGGCTCGGT	0.483000														98			133		0	0	1	0	0
RHO	6010	broad.mit.edu	37	3	129249780	129249780	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:129249780G>A	uc003emt.3	+	1	518	c.423G>A	c.(421-423)aaG>aaA	p.K141K		NM_000539	NP_000530	P08100	OPSD_HUMAN	Homo sapiens rhodopsin (RHO), mRNA.	141					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TGGTGTGTAAGCCCATGAGCA	0.637000														166			47		0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104912255	104912255	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:104912255G>A	uc001pip.1	-	2	493	c.466C>T	c.(466-468)Ctt>Ttt	p.L156F	CASP1_uc021qpt.1_Intron|CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc001pio.1_3'UTR	NM_001017534	NP_001017534	P29466	CASP1_HUMAN	Homo sapiens caspase recruitment domain family, member 16 (CARD16), transcript variant 1, mRNA.	0					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TTGGTTCTAAGAAAAAGCCAC	0.383000														88			46		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22663071	22663071	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22663071C>T	uc021wml.1	+	30		c.2429C>T			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GCCTGATTTTCGGATAGCTGC	0.303000														22			5		0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157740417	157740417	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157740417C>T	uc001fre.2	-	2	151	c.92G>A	c.(91-93)gGa>gAa	p.G31E	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.G31E|FCRL2_uc009wsp.2_Missense_Mutation_p.G31E|FCRL2_uc010pia.1_Missense_Mutation_p.G31E	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	31	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GATGCTGTCTCCTTCGAAGAC	0.453000														52			6		0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44488448	44488448	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:44488448G>A	uc003cnf.2	-	7	3063	c.2715C>T	c.(2713-2715)ttC>ttT	p.F905F	ZNF445_uc011azv.1_Silent_p.F893F|ZNF445_uc011azw.1_Silent_p.F905F	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	905					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GTCTCCCAATGAACTCTTTCC	0.483000														92			40		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124848315	124848315	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124848315G>A	uc021rga.1	-	20	2955	c.2838C>T	c.(2836-2838)acC>acT	p.T946T	NCOR2_uc021rgb.1_Silent_p.T929T|NCOR2_uc010tbb.2_Silent_p.T946T|NCOR2_uc010tbc.2_Silent_p.T928T|NCOR2_uc021rgc.1_Silent_p.T928T|NCOR2_uc010tba.2_Silent_p.T946T|NCOR2_uc001ugj.1_Silent_p.T946T	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	946					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGCCAGTCGGGGTGAGGAGGC	0.716000														56			30		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100226899	100226899	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:100226899C>T	uc001pga.3	+	24	3755	c.3251C>T	c.(3250-3252)tCg>tTg	p.S1084L	CNTN5_uc021qpb.1_Missense_Mutation_p.S1084L|CNTN5_uc021qpc.1_Missense_Mutation_p.S1010L|CNTN5_uc010ruk.2_Missense_Mutation_p.S355L	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	1084					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCCACATCTTCGTCATCAGTC	0.418000														20			6		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207643161	207643161	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207643161G>A	uc001hfw.3	+	5	1058	c.939G>A	c.(937-939)gtG>gtA	p.V313V	CR2_uc001hfv.3_Silent_p.V313V|CR2_uc009xch.3_Silent_p.V313V|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	313	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGGAAGGAGTGAACTTCATCC	0.483000														58			26		0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56557593	56557593	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56557593G>A	uc002iwi.1	-	1	710	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	196						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTATCTCGACGAAATGACCGG	0.433000														68			35		0	0	1	0	0
RPUSD4	84881	broad.mit.edu	37	11	126074205	126074205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:126074205C>T	uc001qde.3	-	5	869	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	RPUSD4_uc010sbl.2_Missense_Mutation_p.R79Q|RPUSD4_uc009zbz.3_Missense_Mutation_p.R241Q	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 4 (RPUSD4), transcript variant 1, mRNA.	272					pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity	p.R272*(1)		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)		CAAGTGAACTCGAAGCTGATG	0.413000														65			15		0	0	1	0	0
HMGB3P1	128872	broad.mit.edu	37	20	33421398	33421398	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33421398C>T	uc002xax.3	-	0		c.868G>A								Homo sapiens high mobility group box 3 pseudogene 1 (HMGB3P1), non-coding RNA.																		tccttctcttcctccccatct	0.393000														11			3		0	0	1	0	0
PDK2	5164	broad.mit.edu	37	17	48174904	48174904	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48174904C>T	uc002iqc.3	+	1	397	c.236C>T	c.(235-237)cCc>cTc	p.P79L	PDK2_uc002iqb.3_Missense_Mutation_p.P15L|PDK2_uc021tzw.1_Missense_Mutation_p.P79L|PDK2_uc021tzx.1_Missense_Mutation_p.P15L	NM_002611	NP_001186828	Q15119	PDK2_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 2 (PDK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	79					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CTGAGCACACCCTCCGTGCAG	0.612000									Autosomal Dominant Polycystic Kidney Disease					37			9		0	0	1	0	0
CNNM3	26505	broad.mit.edu	37	2	97494389	97494389	+	Nonsense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:97494389T>G	uc002swy.3	+	5	1896	c.1872T>G	c.(1870-1872)taT>taG	p.Y624*	CNNM3_uc002swz.3_Nonsense_Mutation_p.Y576*	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	Homo sapiens cyclin M3 (CNNM3), transcript variant 1, mRNA.	624					ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						CATCTGCGTATTGTCCCGACT	0.592000														35			23		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189586385	189586385	+	Nonsense_Mutation	SNP	C	T	T	rs113993966		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:189586385C>T	uc003fry.2	+	7	1098	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	TP63_uc003frx.2_Nonsense_Mutation_p.R337*|TP63_uc003frz.2_Nonsense_Mutation_p.R337*|TP63_uc010hzc.1_Nonsense_Mutation_p.R337*|TP63_uc003fsa.2_Nonsense_Mutation_p.R243*|TP63_uc003fsb.2_Nonsense_Mutation_p.R243*|TP63_uc003fsc.2_Nonsense_Mutation_p.R243*|TP63_uc003fsd.2_Nonsense_Mutation_p.R243*|TP63_uc021xir.1_Nonsense_Mutation_p.R243*|TP63_uc010hzd.1_Nonsense_Mutation_p.R158*|TP63_uc003fse.1_Nonsense_Mutation_p.R218*	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	337			R -> Q (in ADULT syndrome; confers novel transcription activation capacity on isoform 6).		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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R337L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGTCCTGGGCCGACGCTGCTT	0.478000										HNSCC(45;0.13)				68			17		0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46658501	46658501	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46658501C>T	uc003oyj.3	+	0	2890	c.2636C>T	c.(2635-2637)gCt>gTt	p.A879V	TDRD6_uc010jze.3_Missense_Mutation_p.A879V	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	879					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAGGCACAGGCTTTTAGGTGC	0.328000														131			42		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002441	98002441	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:98002441G>A	uc003dsj.1	+	0	710	c.710G>A	c.(709-711)aGa>aAa	p.R237K		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AAGTCTGTTAGAGGCGTAAGG	0.393000														67			22		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488152	24488152	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:24488152C>T	uc003jgr.2	-	11	2493	c.1987G>A	c.(1987-1989)Gga>Aga	p.G663R	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	663					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G663*(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)		TCCTCCTCTCCACCACCCTCA	0.453000										HNSCC(23;0.051)				95			34		0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70260710	70260710	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70260710C>T	uc001opv.4	+	5	560	c.354C>T	c.(352-354)gtC>gtT	p.V118V	CTTN_uc001opu.3_Silent_p.V118V|CTTN_uc001opw.4_Silent_p.V118V	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	118						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGGACTCGGTCCGTGGCTTCG	0.562000														103			22		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196398761	196398761	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:196398761G>A	uc001gtd.1	-	8	825	c.765C>T	c.(763-765)tcC>tcT	p.S255S	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Silent_p.S255S|KCNT2_uc001gtf.1_Silent_p.S255S|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Silent_p.S255S|KCNT2_uc009wyv.1_Silent_p.S230S	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	255						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAAAAAGCTTGGAGGACCATG	0.403000														67			27		0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338165	122338165	+	Missense_Mutation	SNP	G	A	A	rs113296018	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:122338165G>A	uc003vkj.1	-	0	1044	c.808C>T	c.(808-810)Cgt>Tgt	p.R270C	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	270						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	p.V269I(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GTCAGAATACGAACTATGTCA	0.388000														104			41		0	0	1	0	0
SRSF2	6427	broad.mit.edu	37	17	74733199	74733199	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74733199G>A	uc002jsy.4	-	0	295	c.44C>T	c.(43-45)tCc>tTc	p.S15F	SRSF2_uc010wtg.2_Missense_Mutation_p.S15F|SRSF2_uc002jsv.3_Missense_Mutation_p.S15F|SRSF2_uc002jsw.2_5'Flank|MFSD11_uc002jsz.1_Intron|MFSD11_uc002jta.2_Intron|MIR636_uc021udo.1_5'Flank|MFSD11_uc002jtd.4_5'Flank|MFSD11_uc002jtb.3_5'Flank|MFSD11_uc002jtc.3_5'Flank|MFSD11_uc002jte.3_5'Flank|MFSD11_uc010dhb.3_5'Flank|MFSD11_uc010dha.3_5'Flank	NM_001195427	NP_001182356	Q01130	SRSF2_HUMAN	Homo sapiens serine/arginine-rich splicing factor 2 (SRSF2), transcript variant 2, mRNA.	15	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding|protein binding|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CACCTTGAGGGAGGTCATACC	0.687000			Mis		"""MDS, CLL"""									7			3		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905119	55905119	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55905119G>A	uc010riz.2	-	0	76	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGGAAGAGGGGAATCTGGAGC	0.493000														132			41		0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47685725	47685725	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47685725C>T	uc001cqx.2	-	3	1240	c.663G>A	c.(661-663)aaG>aaA	p.K221K	TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Silent_p.K221K	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	221	Helix-loop-helix motif.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TGCTGAGCTTCTTGTCCGGGG	0.597000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									68			13		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61777953	61777953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:61777953C>T	uc003xue.3	+	37	8947	c.8455C>T	c.(8455-8457)Cct>Tct	p.P2819S	CHD7_uc022aux.1_Missense_Mutation_p.P770S	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2819					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTTGAATAACCCTCTGTCAGC	0.547000														18			4		0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209950791	209950792	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:209950791_209950792GG>AA	uc001hho.3	+	11	1568_1569	c.1148_1149GG>AA	c.(1147-1149)ggg>gAA	p.G383E	TRAF3IP3_uc001hhm.2_Intron|TRAF3IP3_uc001hhn.3_Missense_Mutation_p.G363E|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.G383E	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	383						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TGCCTGCAAGGGGACAGAGACC	0.520000														48			14		0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60377841	60377841	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:60377841C>T	uc001czq.3	-	2	521	c.516G>A	c.(514-516)gaG>gaA	p.E172E		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	172					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					CACCGTTCTCCTCTTTTATTG	0.458000														31			18		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108776277	108776277	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108776277C>T	uc003dxl.3	-	12	1175	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	MORC1_uc011bhn.2_Missense_Mutation_p.R363Q	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	363					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.R363Q(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGCTTGGCTTCGGTTTTCTAC	0.338000														102			22		0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30418653	30418653	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30418653G>A	uc002wwq.2	+	8	1358	c.1256G>A	c.(1255-1257)gGg>gAg	p.G419E	MYLK2_uc002wws.2_Missense_Mutation_p.G36E|MYLK2_uc010gdw.1_5'Flank	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	419	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)			AACACCACCGGGCATTTGGTG	0.627000														215			83		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212777	62212777	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:62212777G>A	uc003xuh.3	+	1	715	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	CLVS1_uc003xug.2_Missense_Mutation_p.E131K|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	131	CRAL-TRIO.				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						CGGGGTGCTGGAAAACCGAGA	0.463000														36			19		0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36642158	36642158	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36642158G>A	uc002xhl.3	-	2	270	c.61C>T	c.(61-63)Ctc>Ttc	p.L21F	TTI1_uc002xhm.3_Missense_Mutation_p.L21F	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	21							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GTCTTTGTGAGCTGAACACAG	0.507000														161			24		0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456549	5456549	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:5456549C>T	uc002mca.4	+	0	1124	c.1047C>T	c.(1045-1047)ccC>ccT	p.P349P		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	349						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCTCCTGCCCCGTGTGCAAAC	0.642000														119			13		0	0	1	0	0
CLNK	116449	broad.mit.edu	37	4	10669536	10669536	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:10669536C>T	uc003gmo.4	-	2	96	c.-41_splice	c.e2-1			NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.						immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TCAATTCAGCCTGTGGAAACA	0.478000														18			4		0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101060585	101060585	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:101060585G>A	uc003dut.3	-	14	2256	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F	SENP7_uc003duu.3_Silent_p.F650F|SENP7_uc003duv.3_Silent_p.F682F|SENP7_uc003duw.3_Silent_p.F649F|SENP7_uc003dux.3_Silent_p.F551F	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	715					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCTTCTGCAGGAAGGTGTAAG	0.438000														48			18		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149499582	149499582	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149499582G>A	uc003lro.3	-	18	3160	c.2691C>T	c.(2689-2691)ttC>ttT	p.F897F	PDGFRB_uc010jhd.3_Silent_p.F736F	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	897	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TACCCAAGGTGAAGATCTCCC	0.582000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									75			12		0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81319226	81319226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:81319226C>T	uc002fgn.1	+	8	1507	c.1289C>T	c.(1288-1290)cCa>cTa	p.P430L	BCMO1_uc010vnp.1_Missense_Mutation_p.P361L	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	430					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CAGTGGAGTCCAATCCCAACC	0.438000														61			8		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51172764	51172764	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:51172764G>A	uc021tif.1	-	1	3400	c.3078C>T	c.(3076-3078)ctC>ctT	p.L1026L	SALL1_uc021tid.1_Silent_p.L1026L|SALL1_uc021tie.1_Silent_p.L1123L|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1123					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCAGAGCAGGGAGCAGAACTG	0.567000														51			13		0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141334096	141334096	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:141334096G>A	uc011chi.2	-	2	355	c.137C>T	c.(136-138)tCc>tTc	p.S46F	CLGN_uc003iii.3_Missense_Mutation_p.S46F	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	46					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TACCTCTGAGGAAAGTTCACT	0.318000														41			17		0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145584116	145584116	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145584116C>T	uc003zcc.2	+	2	1128	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Missense_Mutation_p.P322S|SLC52A2_uc010mfy.2_Missense_Mutation_p.P322S|SLC52A2_uc011llc.2_Missense_Mutation_p.P234S|SLC52A2_uc003zcd.2_Missense_Mutation_p.P322S	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	322						integral to plasma membrane	receptor activity|riboflavin transporter activity										TGCTGCCAATCCCCTGGCCTG	0.662000														81			47		0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117666496	117666496	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117666496G>A	uc004bji.2	-	3	712	c.420C>T	c.(418-420)ttC>ttT	p.F140F	TNFSF8_uc022bmi.1_Intron	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	140					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GGCAAATGATGAAGTACAAAC	0.413000														101			66		0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134497252	134497253	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:134497252_134497253GG>AA	uc022bos.1	-	10	1997_1998	c.1838_1839CC>TT	c.(1837-1839)tcc>tTT	p.S613F	RAPGEF1_uc022bot.1_Missense_Mutation_p.S595F|RAPGEF1_uc010mzm.3_Non-coding_Transcript|RAPGEF1_uc022bou.1_Missense_Mutation_p.S600F|RAPGEF1_uc022bov.1_Missense_Mutation_p.S600F|RAPGEF1_uc010mzr.1_Missense_Mutation_p.S41F|RAPGEF1_uc010mzq.1_Missense_Mutation_p.S41F|RAPGEF1_uc010mzs.1_Missense_Mutation_p.S41F|RAPGEF1_uc010mzl.1_Missense_Mutation_p.S41F|RAPGEF1_uc010mzo.1_Missense_Mutation_p.S41F|RAPGEF1_uc010mzp.1_Missense_Mutation_p.S41F	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	595					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCCCACTGAAGGAGTCGCTGAA	0.609000														15			6		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18331127	18331127	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18331127G>A	uc010xqc.2	-	6	1191	c.711C>T	c.(709-711)ttC>ttT	p.F237F	PDE4C_uc002nik.4_Silent_p.F237F|PDE4C_uc002nil.4_Silent_p.F237F|PDE4C_uc002nig.4_Silent_p.F7F|PDE4C_uc002nih.4_Silent_p.F7F|PDE4C_uc010ebk.3_Silent_p.F131F|PDE4C_uc002nii.4_Silent_p.F205F|PDE4C_uc002nif.4_Silent_p.F6F|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_Non-coding_Transcript	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	237					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGATCCGCTTGAACTGGGGCG	0.622000														101			39		0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74100324	74100324	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:74100324C>T	uc003kdm.3	-	7	949	c.906G>A	c.(904-906)caG>caA	p.Q302Q	FAM169A_uc010izm.3_Silent_p.Q242Q|FAM169A_uc003kdl.3_Silent_p.Q120Q	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA.	302										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						CTACAGTTAGCTGCATCTCAC	0.323000														79			28		0	0	1	0	0
ALKBH5	54890	broad.mit.edu	37	17	18087711	18087711	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:18087711C>T	uc010cpw.3	+	0	845	c.154C>T	c.(154-156)Cct>Tct	p.P52S	BC038464_uc002gsn.2_Splice_Site	NM_017758	NP_060228	Q6P6C2	ALKB5_HUMAN	Homo sapiens alkB, alkylation repair homolog 5 (E. coli) (ALKBH5), mRNA.	52						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					cgAACCTTACCCTGTGTCCGG	0.711000														4			3		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711257	155711257	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:155711257G>A	uc002tyv.1	+	2	1133	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	313					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TGTCAAGCTCGAACATCATAT	0.358000														80			30		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269485	150269485	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150269485G>A	uc003whl.3	+	2	409	c.327G>A	c.(325-327)ctG>ctA	p.L109L	GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Silent_p.L123L	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	109							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCATTCTTCTGACCTCCCCAG	0.507000														77			21		0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153751848	153751848	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153751848C>T	uc001fcz.3	+	8	1980	c.1915C>T	c.(1915-1917)Cta>Tta	p.L639L	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	639					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AATGGCAGCCCTAGTTCTGCG	0.627000														80			31		0	0	1	0	0
SRP14	6727	broad.mit.edu	37	15	40328545	40328545	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40328545C>T	uc001zkq.2	-	4	472	c.400G>A	c.(400-402)Gca>Aca	p.A134T	SRP14_uc001zkr.2_3'UTR|LOC100131089_uc021sjc.1_5'Flank|LOC100131089_uc021sjd.1_5'Flank|LOC100131089_uc021sje.1_5'Flank|LOC100131089_uc001zks.2_5'Flank	NM_003134	NP_003125	P37108	SRP14_HUMAN	Homo sapiens signal recognition particle 14kDa (homologous Alu RNA binding protein) (SRP14), mRNA.	134	Ala/Thr-rich.				SRP-dependent cotranslational protein targeting to membrane|negative regulation of translational elongation|response to drug	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		TACTGtgctgctgttgctgct	0.488000														67			18		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50213610	50213610	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50213610G>A	uc010eng.3	+	14	1916	c.1600G>A	c.(1600-1602)Gcc>Acc	p.A534T	CPT1C_uc002ppl.4_Missense_Mutation_p.A500T|CPT1C_uc002ppi.3_Missense_Mutation_p.A451T|CPT1C_uc002ppk.3_Missense_Mutation_p.A523T|CPT1C_uc010enh.3_Missense_Mutation_p.A534T|CPT1C_uc002ppj.3_Missense_Mutation_p.A534T|CPT1C_uc010ybc.1_Missense_Mutation_p.A405T|CPT1C_uc010eni.1_Missense_Mutation_p.A191T	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	534					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCTGAGGGGAGCCAAGATCTT	0.527000														115			10		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896748	175896749	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:175896748_175896749CC>TT	uc003iuc.3	+	4	742_743	c.72_73CC>TT	c.(70-75)cacccc>caTTcc	p.P25S	ADAM29_uc003iud.3_Missense_Mutation_p.P25S|ADAM29_uc010irr.3_Missense_Mutation_p.P25S|ADAM29_uc011cki.2_Missense_Mutation_p.P25S|ADAM29_uc021xuo.1_Missense_Mutation_p.P25S	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	25					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGGATGAGCACCCCCAATATCA	0.510000														56			19		0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095669	145095669	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145095669C>T	uc011lkw.2	+	2	1069	c.967C>T	c.(967-969)Ccc>Tcc	p.P323S	SPATC1_uc011lkx.2_Missense_Mutation_p.P323S	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	323										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			tgcatctgtccccacctcccc	0.662000														18			6		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105152872	105152872	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:105152872C>T	uc004emd.3	+	12	1542	c.1239C>T	c.(1237-1239)gcC>gcT	p.A413A	NRK_uc010npc.1_Silent_p.A81A	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	413	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGGGAGCAGCCAGGGTATTCA	0.587000										HNSCC(51;0.14)				14			16		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37725431	37725431	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:37725431C>T	uc003chd.3	+	17	2045	c.1992C>T	c.(1990-1992)ctC>ctT	p.L664L		NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	664					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TCTCCAACCTCGGAGATGATG	0.458000														31			20		0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	45079881	45079881	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:45079881T>C	uc001clv.1	+	2	1030	c.670T>C	c.(670-672)Tgc>Cgc	p.C224R	RNF220_uc001clw.1_Missense_Mutation_p.C224R|RNF220_uc010okx.1_5'UTR|RNF220_uc010oky.1_5'UTR	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	224					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GGCCCCAATTTGCCCCATCTG	0.587000														94			33		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75978949	75978949	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:75978949G>A	uc003kek.3	+	28	3892	c.3670G>A	c.(3670-3672)Gaa>Aaa	p.E1224K	IQGAP2_uc011csv.2_Missense_Mutation_p.E720K|IQGAP2_uc003kel.3_Missense_Mutation_p.E720K|IQGAP2_uc010izw.1_5'UTR	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1224					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GCTCCTGTTGGAACACCAGGA	0.398000														70			27		0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7647019	7647019	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7647019C>T	uc001mfj.4	+	7	1111	c.723C>T	c.(721-723)gcC>gcT	p.A241A	PPFIBP2_uc010rbb.1_Silent_p.A164A|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Silent_p.A164A|PPFIBP2_uc010rbd.1_Silent_p.A83A|PPFIBP2_uc010rbe.2_Silent_p.A129A|PPFIBP2_uc001mfl.4_Silent_p.A98A	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	241					DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CTGAAGTCGCCCAGCTGCAAG	0.562000														48			20		0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342314	60342314	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:60342314G>A	uc010woz.2	-	13		c.1815C>T								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						ACGAGGAGGCGAAGCTTGCTT	0.468000														98			42		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39066565	39066565	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39066565C>T	uc002oit.3	+	96	14266	c.14136C>T	c.(14134-14136)ttC>ttT	p.F4712F	RYR1_uc002oiu.3_Silent_p.F4707F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4712					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAGGTCTTTCCCTAGCAACT	0.557000														70			28		0	0	1	0	0
EFHA2	286097	broad.mit.edu	37	8	16921710	16921710	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:16921710G>A	uc003wxd.2	+	1	541	c.499G>A	c.(499-501)Gat>Aat	p.D167N		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	Homo sapiens EF-hand domain family, member A2 (EFHA2), mRNA.	167						integral to membrane	calcium ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(4)	23				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		GACTCCGTATGATTTTATTTT	0.348000														91			16		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21035984	21035984	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21035984C>T	uc010vbe.2	-	38	5580	c.5580G>A	c.(5578-5580)tgG>tgA	p.W1860*		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1860	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAGGGGCTTCCAGCCTAGTT	0.532000														47			4		0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84256408	84256408	+	Silent	SNP	C	T	T	rs113623603		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84256408C>T	uc010voc.2	-	2	1096	c.975G>A	c.(973-975)ggG>ggA	p.G325G		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	325			G -> R (in dbSNP:rs7196482).			voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GGTAGGAGCTCCCGCTCGGCC	0.672000														16			4		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20482500	20482500	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20482500C>T	uc010bwe.3	+	5	941	c.702C>T	c.(700-702)tcC>tcT	p.S234S	ACSM2A_uc010bwd.1_Intron|ACSM2A_uc010vax.1_Silent_p.S155S|ACSM2A_uc002dhf.4_Silent_p.S234S|ACSM2A_uc002dhg.4_Silent_p.S234S|ACSM2A_uc010vay.2_Silent_p.S155S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	234					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CAGAACATTCCTACTCGAGCC	0.498000														79			15		0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79165002	79165002	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:79165002G>A	uc002jzp.1	-	21	2965	c.2765C>T	c.(2764-2766)gCc>gTc	p.A922V	AZI1_uc002jzm.1_Missense_Mutation_p.A354V|AZI1_uc002jzn.1_Missense_Mutation_p.A919V|AZI1_uc002jzo.1_Missense_Mutation_p.A883V|AZI1_uc010wum.1_Missense_Mutation_p.A886V|AZI1_uc002jzq.3_Missense_Mutation_p.A70V	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	922					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCGGCTCTCGGCAGCCTTCTC	0.647000														77			36		0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56922570	56922570	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:56922570G>A	uc003xsk.4	+	12	1722	c.1440G>A	c.(1438-1440)tgG>tgA	p.W480*	LYN_uc003xsl.4_Nonsense_Mutation_p.W459*	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	480	Protein kinase.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			AAATGTGCTGGAAAGAAAAGG	0.512000														86			11		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531962	42531962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:42531962C>T	uc010dni.3	+	3	2953	c.2657C>T	c.(2656-2658)tCa>tTa	p.S886L		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	886						nucleus	DNA binding	p.K885M(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAGAAGAGCTCAGAATCCCGA	0.582000									Schinzel-Giedion syndrome					33			7		0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56934979	56934979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56934979C>T	uc010ygl.1	+	4	1117	c.952C>T	c.(952-954)Cat>Tat	p.H318Y	ZNF583_uc002qnc.2_Missense_Mutation_p.H318Y|ZNF583_uc010ygm.1_Missense_Mutation_p.H318Y	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TCAGAGAGTTCATACTGGAGA	0.413000														133			18		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424037	125424037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125424037C>T	uc022bmz.1	+	0	43	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						ATTCATCCTCCTTGGACTCTC	0.448000														69			25		0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102668758	102668758	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102668758C>T	uc001phi.2	-	0	209	c.66G>A	c.(64-66)gcG>gcA	p.A22A	LOC100288077_uc001phh.1_Non-coding_Transcript|MMP1_uc010ruv.1_Intron	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	22					blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TTTCTAGAGTCGCTGGGAAGC	0.443000														27			16		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901844	51901844	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:51901844G>A	uc002iua.2	+	0	1606	c.1450G>A	c.(1450-1452)Gct>Act	p.A484T	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	484					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATGTATTCTGGCTTTGGGTCA	0.507000														37			8		0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35477696	35477696	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:35477696C>T	uc003okv.4	-	5	521	c.509G>A	c.(508-510)gGa>gAa	p.G170E	TULP1_uc003okw.4_Missense_Mutation_p.G117E|TULP1_uc021yyx.1_Missense_Mutation_p.G170E|TULP1_uc021yyy.1_Missense_Mutation_p.G170E	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	170					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GTCAGGGCTTCCCAGGTCTCC	0.567000														106			39		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169812155	169812155	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169812155G>A	uc011cjx.2	+	10	2258	c.2047G>A	c.(2047-2049)Gac>Aac	p.D683N	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Missense_Mutation_p.D683N|PALLD_uc003irv.3_Missense_Mutation_p.D301N|PALLD_uc003irw.3_Missense_Mutation_p.D196N	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	907	Interaction with ARGBP2, SPIN90 and SRC.|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGTTATTCAAGACCTGGAACG	0.463000									Pancreatic Cancer, Familial Clustering of					58			27		0	0	1	0	0
TRAF3	7187	broad.mit.edu	37	14	103371731	103371731	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:103371731C>T	uc001ymc.2	+	11	1670	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	TRAF3_uc001ymd.2_Silent_p.S439S|TRAF3_uc001yme.2_Silent_p.S414S|TRAF3_uc010txy.2_Silent_p.S356S	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	Homo sapiens TNF receptor-associated factor 3 (TRAF3), transcript variant 1, mRNA.	439	MATH.				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGACCCTGTCCCTTTACAGCC	0.577000														58			35		0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101390172	101390172	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:101390172G>A	uc003dve.4	-	2	810	c.580C>T	c.(580-582)Cca>Tca	p.P194S	ZBTB11_uc003dvf.2_3'UTR	NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CAATGTTTTGGAGAAGAACGT	0.368000														151			50		0	0	1	0	0
BNIPL	149428	broad.mit.edu	37	1	151015480	151015480	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151015480G>A	uc001ewl.2	+	4	655	c.482G>A	c.(481-483)aGg>aAg	p.R161K	BNIPL_uc009wmi.2_Missense_Mutation_p.R79K|BNIPL_uc009wmj.2_Non-coding_Transcript	NM_138278	NP_001153114	Q7Z465	BNIPL_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kD interacting protein like (BNIPL), transcript variant 1, mRNA.	161					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	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)			ACAGCTGAAAGGCTGGGCCGA	0.552000														105			55		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255182	140255182	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140255182G>A	uc003lic.2	+	0	252	c.125G>A	c.(124-126)gGc>gAc	p.G42D	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.G42D	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	55					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)			GCCAAACACGGCACCTTCGTG	0.677000														95			29		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55719575	55719575	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:55719575C>T	uc010qhy.1	-	23	3449	c.3054G>A	c.(3052-3054)gaG>gaA	p.E1018E	PCDH15_uc010qhq.2_Silent_p.E1018E|PCDH15_uc010qhr.2_Silent_p.E1013E|PCDH15_uc021pqv.1_Silent_p.E1013E|PCDH15_uc021pqw.1_Silent_p.E1025E|PCDH15_uc010qht.2_Silent_p.E1020E|PCDH15_uc021pqx.1_Silent_p.E1013E|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.E1013E|PCDH15_uc021pqz.1_Silent_p.E991E|PCDH15_uc010qhv.1_Silent_p.E1013E|PCDH15_uc010qhw.1_Silent_p.E976E|PCDH15_uc010qhx.1_Silent_p.E942E|PCDH15_uc010qhz.1_Silent_p.E1013E|PCDH15_uc010qia.1_Silent_p.E991E|PCDH15_uc001jju.1_Silent_p.E1013E|PCDH15_uc010qib.1_Silent_p.E991E	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1013	Cadherin 9.				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)				ACATCACAGGCTCCCCATCAT	0.398000										HNSCC(58;0.16)				55			24		0	0	1	0	0
MARCH8	220972	broad.mit.edu	37	10	45953750	45953750	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:45953750G>A	uc001jci.1	-	6	1052	c.813C>T	c.(811-813)tcC>tcT	p.S271S	MARCH8_uc001jch.2_Silent_p.S553S|MARCH8_uc001jcj.1_Silent_p.S271S|MARCH8_uc001jck.1_Silent_p.S271S|DL492557_uc001jcf.3_5'Flank|MARCH8_uc001jcg.1_Silent_p.S140S	NM_001002266	NP_659458	Q5T0T0	MARH8_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 8 (MARCH8), transcript variant 7, mRNA.	271						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						AGTTTGTGTCGGAATGACAGA	0.393000														98			10		0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9324872	9324872	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9324872G>A	uc002mla.2	-	0	676	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G213E(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGGAGAAGAGGATCCCAGCTA	0.527000														76			25		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161007493	161007493	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:161007493G>A	uc003qtl.3	-	25	4237	c.4117C>T	c.(4117-4119)Cct>Tct	p.P1373S		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3881	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCTTCAGAAGGAAGCTCTGTG	0.478000														45			36		0	0	1	0	0
POU5F1P4	645682	broad.mit.edu	37	1	155403337	155403337	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155403337G>A	uc010pgc.1	-	0		c.137C>T			ASH1L_uc001fkt.3_Intron|ASH1L_uc009wqq.3_Intron|POU5F1P4_uc010pgd.2_Silent_p.V115V					Homo sapiens partial mRNA for POU class 5 homeobox 1 pseudogene 4, clone BM-TAKA-09_AS.																		CTGGTGCCGTGAAACTGGAGA	0.582000														17			4		0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203915	5203915	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:5203915C>T	uc009xhz.2	-	2		c.365G>A								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CCAATTCTGCCCGAAAGAAAG	0.393000														26			10		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182347137	182347137	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:182347137G>A	uc002unu.3	+	7	1654	c.891G>A	c.(889-891)atG>atA	p.M297I	ITGA4_uc010zfl.1_Missense_Mutation_p.M297I	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	297					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TACATGAAATGAAAGGTAAAA	0.313000														74			26		0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66082657	66082657	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66082657G>A	uc001ohm.1	-	0	1859	c.1842C>T	c.(1840-1842)ccC>ccT	p.P614P		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	614	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GGAGGGCTGCGGGCTGGGTGG	0.622000														67			45		0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10569274	10569274	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10569274G>A	uc001qyi.1	-	4	624	c.579C>T	c.(577-579)ttC>ttT	p.F193F	KLRC2_uc001qyf.3_Silent_p.F193F|KLRC2_uc021qvc.1_Silent_p.F193F|KLRC2_uc001qyh.3_Silent_p.F193F|KLRC2_uc021qvd.1_Silent_p.F193F	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	192	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ACTCATGTTTGAAAGCCAAAC	0.318000														77			16		0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34241738	34241738	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34241738G>A	uc021wcr.1	-	0	1507	c.1507C>T	c.(1507-1509)Cat>Tat	p.H503Y	CPNE1_uc010zvj.2_5'UTR|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.H503Y|RBM12_uc002xds.3_Missense_Mutation_p.H503Y|RBM12_uc002xdr.3_Missense_Mutation_p.H503Y|RBM12_uc021wcq.1_Missense_Mutation_p.H503Y	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	503	RRM 2.					nucleus	RNA binding|nucleotide binding|protein binding	p.H503N(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GTAATTGGATGAACTTGAATA	0.398000														180			60		0	0	1	0	0
SOLH	6650	broad.mit.edu	37	16	601380	601380	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:601380C>T	uc002chi.3	+	7	2508	c.2145C>T	c.(2143-2145)ccC>ccT	p.P715P	SOLH_uc002chj.3_5'Flank	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	715	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				GCCTGCGCCCCCGGCATGCCT	0.677000														41			20		0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123600430	123600430	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123600430G>A	uc001pzd.1	-	4	906	c.506C>T	c.(505-507)tCg>tTg	p.S169L	ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.S169L|ZNF202_uc001pzf.1_Missense_Mutation_p.S169L	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	169					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CTCGGGGGTCGAGCTTTGCAC	0.597000														36			7		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31876800	31876800	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:31876800G>A	uc003tcm.2	-	10	1658	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	PDE1C_uc003tcn.1_Silent_p.F399F|PDE1C_uc003tco.2_Silent_p.F459F|PDE1C_uc003tcr.3_Silent_p.F399F|PDE1C_uc003tcs.3_Silent_p.F399F	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	399	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GTACCTGTCTGAAGAACTCCT	0.428000														68			32		0	0	1	0	0
PAEP	5047	broad.mit.edu	37	9	138454150	138454150	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:138454150C>T	uc004cge.1	+	1	151	c.107C>T	c.(106-108)aCc>aTc	p.T36I	PAEP_uc010naw.1_Intron|PAEP_uc010nay.3_Missense_Mutation_p.T36I|PAEP_uc010naz.3_Non-coding_Transcript|PAEP_uc010nba.1_Missense_Mutation_p.T36I|PAEP_uc004cgd.1_Missense_Mutation_p.T36I|PAEP_uc011mdp.1_Intron|PAEP_uc004cgg.1_Missense_Mutation_p.T36I|PAEP_uc004cgf.1_Missense_Mutation_p.T36I	NM_001018049	NP_002562	P09466	PAEP_HUMAN	Homo sapiens progestagen-associated endometrial protein (PAEP), transcript variant 1, mRNA.	36				GTW -> VTA (in Ref. 9; AA sequence).|T -> K (in Ref. 7; AA sequence).	multicellular organismal development	extracellular region	binding|transporter activity	p.G35E(1)		cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		TTGGCAGGGACCTGGCACTCC	0.652000														39			5		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25341421	25341421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25341421G>A	uc001upr.3	+	1	183	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	RNF17_uc010tdd.1_5'UTR|RNF17_uc010tde.2_Missense_Mutation_p.E48K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_5'UTR|RNF17_uc001upq.1_Missense_Mutation_p.E48K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	48					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)		TCACCATTGTGAACTTCAATG	0.358000														72			23		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124377772	124377772	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124377772G>A	uc001lgk.1	+	37	4850	c.4744G>A	c.(4744-4746)Gag>Aag	p.E1582K	DMBT1_uc001lgl.1_Missense_Mutation_p.E1572K|DMBT1_uc001lgm.1_Missense_Mutation_p.E954K|DMBT1_uc021qaf.1_Missense_Mutation_p.E1582K|DMBT1_uc021qag.1_Missense_Mutation_p.E1572K|DMBT1_uc021qah.1_Missense_Mutation_p.E954K|DMBT1_uc009xzz.1_Missense_Mutation_p.E1582K|DMBT1_uc010qtx.1_Missense_Mutation_p.E433K|DMBT1_uc009yab.1_Missense_Mutation_p.E285K|DMBT1_uc009yac.1_5'Flank	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1582	SRCR 12.				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.H1581Q(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)				CTCAGGACACGAGTCTTACCT	0.597000														159			59		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50946288	50946288	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50946288C>T	uc009xog.3	-	16	2455	c.2421G>A	c.(2419-2421)gcG>gcA	p.A807A	OGDHL_uc001jie.3_Silent_p.A780A|OGDHL_uc010qgt.2_Silent_p.A723A|OGDHL_uc010qgu.2_Silent_p.A571A	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	780					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.A780A(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTTCGGGCCTCGCTGACGAGT	0.617000														42			13		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208940	140208940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140208940G>A	uc003lho.2	+	0	1291	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.E422K|PCDHAC2_uc011dab.2_Missense_Mutation_p.E422K	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	436	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)			GTCGGCCTATGAGTTGGTGGT	0.617000														214			73		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402436	89402436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89402436C>T	uc010upo.1	+	11	6994	c.6620C>T	c.(6619-6621)tCg>tTg	p.S2207L	ACAN_uc010upp.1_Missense_Mutation_p.S2207L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2207					cell adhesion		hyaluronic acid binding|sugar binding	p.E2207K(1)		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)			GGTCACACCTCGCAGCTGGGC	0.592000														51			40		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420360	55420360	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55420360G>A	uc001sgp.4	+	1	515	c.137G>A	c.(136-138)aGc>aAc	p.S46N	NEUROD4_uc021qyr.1_Missense_Mutation_p.S46N	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	46					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						ATGCTCAGCAGCTTAACTGAA	0.468000														43			18		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897906	175897906	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:175897906G>A	uc003iuc.3	+	4	1900	c.1230G>A	c.(1228-1230)gaG>gaA	p.E410E	ADAM29_uc003iud.3_Silent_p.E410E|ADAM29_uc010irr.3_Silent_p.E410E|ADAM29_uc011cki.2_Silent_p.E410E|ADAM29_uc021xuo.1_Silent_p.E410E	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	410	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAGGAGAAGAGTGTGACTGTG	0.428000														107			32		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772291	4772291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:4772291C>T	uc001alm.1	+	1	742	c.361C>T	c.(361-363)Cca>Tca	p.P121S	AJAP1_uc001aln.3_Missense_Mutation_p.P121S	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	121					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GGCCAAGCCCCCAGCTGCTGC	0.726000														9			5		0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3212029	3212029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3212029G>A	uc010zqe.2	-	7	1149	c.1024C>T	c.(1024-1026)Ccg>Tcg	p.P342S	SLC4A11_uc002wig.3_Missense_Mutation_p.P315S|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.P299S	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	315					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TTCGTTCTCGGCGCCACTGGA	0.662000														53			25		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579081	44579081	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44579081G>A	uc003tlb.3	-	1	971	c.915C>T	c.(913-915)ttC>ttT	p.F305F	NPC1L1_uc011kbw.2_Silent_p.F305F|NPC1L1_uc003tlc.3_Silent_p.F305F|NPC1L1_uc003tld.3_Silent_p.F305F	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	305					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)	GGGCCACACGGAATCCCACAA	0.602000														74			39		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306010	54306010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54306010G>A	uc021smr.1	+	0	910	c.910G>A	c.(910-912)Gac>Aac	p.D304N	UNC13C_uc021sms.1_Missense_Mutation_p.D304N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	304					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)		GGAAACTAGAGACATCCATGA	0.428000														141			42		0	0	1	0	0
MOS	4342	broad.mit.edu	37	8	57026495	57026495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:57026495G>A	uc011leb.2	-	0	47	c.47C>T	c.(46-48)tCc>tTc	p.S16F		NM_005372	NP_005363	P00540	MOS_HUMAN	Homo sapiens v-mos Moloney murine sarcoma viral oncogene homolog (MOS), mRNA.	16							ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CACCGATGGGGAAAACTCGCT	0.692000														31			11		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6649939	6649939	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6649939C>T	uc001mem.1	-	12	5685	c.5284G>A	c.(5284-5286)Gag>Aag	p.E1762K		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1762	Cadherin 17.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGCCCTCAGGCACCTCC	0.572000														93			7		0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128595285	128595285	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:128595285C>T	uc003ifk.2	+	5	1201	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	366										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TTAGTTCATCCCTCCTTTTAA	0.303000														46			11		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107218706	107218706	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:107218706G>A	uc021ser.1	-	12		c.1057C>T								Parts of antibodies, mostly variable regions.																		CCGTGTCCTCGGCTCTCAGAC	0.552000														295			129		0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35033608	35033608	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35033608C>T	uc003jjf.3	-	5	875	c.632G>A	c.(631-633)gGg>gAg	p.G211E	AGXT2_uc011com.2_Missense_Mutation_p.G211E|AGXT2_uc011con.2_Missense_Mutation_p.G119E|Mir_548_uc021xxj.1_5'Flank	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	211					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CTTGTAGGTCCCTACGTTTGT	0.483000														56			18		0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	420556	420556	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:420556C>T	uc003zgf.2	+	30	4108	c.3996C>T	c.(3994-3996)ttC>ttT	p.F1332F	DOCK8_uc022bcu.1_Silent_p.F1264F|DOCK8_uc010mgv.3_Silent_p.F1232F|DOCK8_uc010mgu.3_Silent_p.F634F|DOCK8_uc003zgk.2_Silent_p.F790F	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1332	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.K1331K(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATCTACTTTTCATCTGTGTGT	0.418000														76			42		0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2546846	2546846	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2546846C>T	uc002cql.3	+	1	837	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	TBC1D24_uc002cqk.3_Silent_p.L233L|TBC1D24_uc002cqm.3_Silent_p.L233L|TBC1D24_uc010bsm.3_5'Flank	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	233	Rab-GAP TBC.				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TGACGTCTTCCTGGTGGAGGG	0.642000														51			12		0	0	1	0	0
CDK19	23097	broad.mit.edu	37	6	110942510	110942510	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:110942510G>A	uc003puh.1	-	11	1247	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S	CDK19_uc003pui.1_Missense_Mutation_p.P332S|CDK19_uc011eax.1_Missense_Mutation_p.P268S	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	392	Gln-rich.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GCCTGTGGAGGGGCTGCTGCC	0.632000														84			61		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103155868	103155868	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:103155868G>A	uc022ajr.1	-	49	8043	c.7883C>T	c.(7882-7884)cCt>cTt	p.P2628L	RELN_uc022ajq.1_Missense_Mutation_p.P2628L|RELN_uc010liz.3_Missense_Mutation_p.P2628L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2628					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)		AGCATCAGGAGGGAGAAGGAT	0.478000														36			15		0	0	1	0	0
PPP1R17	10842	broad.mit.edu	37	7	31735138	31735138	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:31735138G>A	uc003tcl.3	+	2	464	c.138G>A	c.(136-138)aaG>aaA	p.K46K	PPP1R17_uc011kaf.2_Intron	NM_006658	NP_006649	O96001	GSUB_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 17 (PPP1R17), transcript variant 1, mRNA.	46					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											AGCCTAGAAAGGGAAAAAATG	0.388000														98			31		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65220510	65220510	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:65220510C>T	uc001xhr.3	-	32	6397	c.6346_splice	c.e32-1	p.G2116_splice	SPTB_uc001xhs.3_Splice_Site_p.G2116_splice|SPTB_uc010aqi.3_Splice_Site_p.G777_splice	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 1, mRNA.	0					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCTTCTTCCCCCTGCTCAGG	0.597000														63			20		0	0	1	0	0
SDR9C7	121214	broad.mit.edu	37	12	57324024	57324024	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57324024G>A	uc010sqw.2	-	1	690	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7), mRNA.	182						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TGCTGTCAGAGAAGGCCTCAA	0.552000														101			37		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117310547	117310547	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:117310547C>T	uc001prh.1	-	21	4150	c.4148G>A	c.(4147-4149)tGg>tAg	p.W1383*		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1323	Fibronectin type-III 5.				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)		GTCCTTGGTCCACTTCACAGC	0.567000														186			45		0	0	1	0	0
SH2D1B	117157	broad.mit.edu	37	1	162368759	162368760	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:162368759_162368760GG>AA	uc001gbz.1	-	2	438_439	c.316_317CC>TT	c.(316-318)ccc>TTc	p.P106F	SH2D1B_uc001gca.1_Intron	NM_053282	NP_444512	O14796	SH21B_HUMAN	Homo sapiens SH2 domain containing 1B (SH2D1B), mRNA.	106								p.S105N(1)		kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCTCAAGCTGGGGCTGGTTCTC	0.406000														73			34		0	0	1	0	0
TMEM156	80008	broad.mit.edu	37	4	39000465	39000465	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:39000465G>A	uc003gto.3	-	1	261	c.153C>T	c.(151-153)tcC>tcT	p.S51S	TMEM156_uc010ifj.3_Silent_p.S51S	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	51						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AATTTAAGGAGGAGAGTGAAT	0.333000														36			19		0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133670172	133670172	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:133670172G>A	uc003eqa.4	-	5	1015	c.741C>T	c.(739-741)gtC>gtT	p.V247V	SLCO2A1_uc011blv.2_Intron|SLCO2A1_uc010htw.1_Silent_p.V79V	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	247					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GGTCACCCGGGACCAAGTTAA	0.483000														62			29		0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35473605	35473605	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:35473605C>T	uc003okv.4	-	10	1037	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	TULP1_uc003okw.4_Missense_Mutation_p.R289Q|TULP1_uc021yyx.1_Missense_Mutation_p.R342Q|TULP1_uc021yyy.1_Missense_Mutation_p.R341Q	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	342					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTCCGTTTTCGTTTCCTGCC	0.567000														52			27		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77471795	77471795	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:77471795G>A	uc021sqy.1	-	4	3050	c.2474C>T	c.(2473-2475)cCt>cTt	p.P825L	PEAK1_uc002bcn.2_Missense_Mutation_p.P825L|PEAK1_uc021sqz.1_Missense_Mutation_p.P223L	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	825	Pro-rich.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										CTCACCACTAGGCTGAGATGT	0.502000														129			36		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2436207	2436207	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:2436207G>A	uc010qxl.2	-	9	1559	c.1550C>T	c.(1549-1551)cCc>cTc	p.P517L	TRPM5_uc001lwm.4_Missense_Mutation_p.P517L|TRPM5_uc009ydn.3_Missense_Mutation_p.P519L	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	517						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTCCCGCCAGGGGTTCTCGCT	0.706000														21			7		0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70543268	70543268	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:70543268G>A	uc002ezc.3	-	6	879	c.868C>T	c.(868-870)Cac>Tac	p.H290Y	COG4_uc002ezd.3_Missense_Mutation_p.H290Y|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	286					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	p.T289T(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				ATTGGCTGGTGGGTCTCCACA	0.473000														60			18		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15383628	15383628	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15383628G>A	uc002nar.3	-	1	505	c.283C>T	c.(283-285)Cct>Tct	p.P95S	BRD4_uc002nas.3_Missense_Mutation_p.P95S|BRD4_uc002nat.3_Missense_Mutation_p.P95S|BRD4_uc002nau.4_Missense_Mutation_p.P95S	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	95	Bromo 1.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTACTCACAGGGAGGTTCAGC	0.592000			T	C15orf55	lethal midline carcinoma of young people									24			6		0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205896725	205896725	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205896725G>A	uc001hdp.3	-	9	1224	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	SLC26A9_uc001hdo.3_Silent_p.I38I|SLC26A9_uc001hdq.3_Silent_p.I370I	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	370						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)			AGCCGAGAGCGATCATCTCCT	0.552000														30			10		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7645572	7645572	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:7645572G>A	uc002cys.2	+	7	1478	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	RBFOX1_uc010buf.1_Missense_Mutation_p.E164K|RBFOX1_uc002cyr.1_Missense_Mutation_p.E163K|RBFOX1_uc002cyt.2_Missense_Mutation_p.E164K|RBFOX1_uc010uxz.1_Missense_Mutation_p.E207K|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Missense_Mutation_p.E164K|RBFOX1_uc010uyb.1_Missense_Mutation_p.E164K|RBFOX1_uc002cyw.2_Missense_Mutation_p.E184K|RBFOX1_uc002cyy.2_Missense_Mutation_p.E184K|RBFOX1_uc002cyx.2_Missense_Mutation_p.E184K|RBFOX1_uc010uyc.1_Missense_Mutation_p.E184K	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	164	RRM.				RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGTAACTTTCGAAAATAGTGC	0.453000														91			41		0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	705079	705079	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:705079C>T	uc002cii.1	+	13	1542	c.1488C>T	c.(1486-1488)gtC>gtT	p.V496V	WDR90_uc002cig.1_Silent_p.V496V|WDR90_uc002cih.1_Silent_p.V497V|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_5'UTR|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	496										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCGAGGTGGTCGTTCTGGCAA	0.652000														70			13		0	0	1	0	0
OR56A5	390084	broad.mit.edu	37	11	5989080	5989080	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5989080G>A	uc010qzu.2	-	0	645	c.645C>T	c.(643-645)atC>atT	p.I215I		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	215						integral to membrane|plasma membrane	olfactory receptor activity										GAACAATAAGGATGAGGTCAG	0.433000														7			4		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21901519	21901519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:21901519G>A	uc003svc.3	+	69	11303	c.11272G>A	c.(11272-11274)Gaa>Aaa	p.E3758K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3758					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGACAAGGTGGAAGACATGCA	0.502000									Kartagener syndrome					74			16		0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54416286	54416286	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:54416286C>T	uc003jpo.2	-	9	1485	c.1308G>A	c.(1306-1308)ggG>ggA	p.G436G	CDC20B_uc003jpn.2_Silent_p.G436G|CDC20B_uc010ivu.2_Intron	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	436										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GGATGCTCTTCCCAGCATTTA	0.453000														109			49		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64607671	64607671	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64607671G>A	uc001obs.4	-	4	502	c.502C>T	c.(502-504)Ccg>Tcg	p.P168S		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	168	Protein kinase.		P -> L (in dbSNP:rs34454471).		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						AGCTCGGGCGGGAGACGGTCC	0.642000														38			15		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352575	168352575	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:168352575C>T	uc021zik.1	+	28	4716	c.4397C>T	c.(4396-4398)tCg>tTg	p.S1466L	MLLT4_uc003qwb.1_Missense_Mutation_p.S1491L|MLLT4_uc003qwc.2_Missense_Mutation_p.S1507L|MLLT4_uc021zij.1_Missense_Mutation_p.S1490L|MLLT4_uc021zim.1_Missense_Mutation_p.S1053L|MLLT4_uc003qwg.1_Missense_Mutation_p.S816L	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1507					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GAGCTTTCCTCGGGGGACAGT	0.592000			T	MLL	AL									35			16		0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94394620	94394620	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94394620G>A	uc001ybz.2	+	2	500	c.175G>A	c.(175-177)Ggc>Agc	p.G59S	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_5'UTR|FAM181A_uc021saz.1_5'UTR|FAM181A_uc010aus.2_5'UTR|FAM181A_uc001yca.2_5'UTR	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	59										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CTCGTGCAGTGGCCCCCTGGT	0.607000														56			26		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33941323	33941323	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:33941323C>T	uc001zhi.3	+	30	4099	c.4029C>T	c.(4027-4029)gtC>gtT	p.V1343V	RYR3_uc010bar.3_Silent_p.V1343V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1343	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATCCTGTGTCTGGGTCGGAT	0.542000														121			47		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160106098	160106098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160106098G>A	uc001fvc.3	+	17	2633	c.2501G>A	c.(2500-2502)cGa>cAa	p.R834Q	ATP1A2_uc001fvb.2_Missense_Mutation_p.R834Q|ATP1A2_uc001fvd.3_Missense_Mutation_p.R570Q	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	834					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGGCAGCCACGAAACTCCCAG	0.597000														70			37		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33030907	33030907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:33030907C>T	uc001rlj.4	-	2	1022	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	PKP2_uc001rlk.4_Missense_Mutation_p.E303K|PKP2_uc010skj.2_Missense_Mutation_p.E303K	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	303					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGCCCAGCTTCCCTCAGCGTG	0.667000														53			5		0	0	1	0	0
SHQ1	55164	broad.mit.edu	37	3	72842128	72842128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:72842128G>A	uc003dpf.3	-	9	1227	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S	SHQ1_uc010hod.3_Missense_Mutation_p.P285S	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	Homo sapiens SHQ1 homolog (S. cerevisiae) (SHQ1), mRNA.	374					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		ATGTACGCTGGGTCATTTTCC	0.308000														89			9		0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8862729	8862729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:8862729C>T	uc002czc.4	+	10	881	c.715C>T	c.(715-717)Cct>Tct	p.P239S	ABAT_uc002czd.4_Missense_Mutation_p.P239S|ABAT_uc010buh.3_Missense_Mutation_p.P181S|ABAT_uc010bui.3_Missense_Mutation_p.P239S	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	239					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GATCGACATCCCTTCCTTTGA	0.527000														300			32		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12353605	12353605	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12353605C>T	uc001atv.3	+	23	6018	c.5877C>T	c.(5875-5877)ctC>ctT	p.L1959L	VPS13D_uc001atw.3_Silent_p.L1959L|VPS13D_uc001atx.3_Silent_p.L1147L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1959					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACCCTCTGCTCCGGAGAGAAC	0.483000														53			10		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173552675	173552676	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:173552675_173552676CC>TT	uc001giz.2	-	5	1032_1033	c.609_610GG>AA	c.(607-612)cggggc>cgAAgc	p.G204S	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	204					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATTCTGTTGCCCCGAAAATTTC	0.277000														81			28		0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145770733	145770733	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145770733G>A	uc003zds.1	-	6	2976	c.2421C>T	c.(2419-2421)ctC>ctT	p.L807L	ARHGAP39_uc011llk.1_Silent_p.L807L|ARHGAP39_uc003zdt.1_Silent_p.L807L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	807	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						AGATGGCCATGAGCTCCCAGC	0.637000														45			9		0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179076997	179076997	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179076997G>A	uc001gmj.4	-	11	3692	c.3405C>T	c.(3403-3405)gcC>gcT	p.A1135A	ABL2_uc010pnf.2_Silent_p.A1032A|ABL2_uc010png.2_Silent_p.A1011A|ABL2_uc010pnh.2_Silent_p.A1114A|ABL2_uc001gmg.4_Silent_p.A1017A|ABL2_uc001gmi.4_Silent_p.A1120A|ABL2_uc010pne.2_Silent_p.A996A	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	1135	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCTCTCGGAAGGCAAATTTGT	0.537000			T	ETV6	AML									44			29		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101759873	101759873	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:101759873G>A	uc001vox.1	-	21	2733	c.2544C>T	c.(2542-2544)aaC>aaT	p.N848N		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	848						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCCGGCAAAAGTTTCTGAACC	0.502000														93			18		0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123484269	123484269	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123484269C>T	uc001pyw.2	+	15	2051	c.1722C>T	c.(1720-1722)ccC>ccT	p.P574P	GRAMD1B_uc001pyx.2_Silent_p.P567P|GRAMD1B_uc010rzw.2_Silent_p.P527P|GRAMD1B_uc010rzx.1_Silent_p.P527P|GRAMD1B_uc001pyy.2_Silent_p.P258P	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	567						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GGAAGCGTCCCCATGCCCACC	0.577000														33			16		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142572875	142572875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142572875C>T	uc003wbx.2	-	8	1394	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	TRPV6_uc003wbw.1_Missense_Mutation_p.E175K|TRPV6_uc010lou.1_Missense_Mutation_p.E260K	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	389					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTCACCAGCTCCCCGACCAGC	0.562000														99			19		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31918627	31918627	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:31918627G>A	uc003tcm.2	-	3	868	c.407C>T	c.(406-408)gCt>gTt	p.A136V	PDE1C_uc003tcn.1_Missense_Mutation_p.A136V|PDE1C_uc003tco.2_Missense_Mutation_p.A196V|PDE1C_uc003tcr.3_Missense_Mutation_p.A136V|PDE1C_uc003tcs.3_Missense_Mutation_p.A136V	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	136					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AAATATCCCAGCCTGCACTGC	0.507000														134			25		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220312757	220312757	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220312757G>A	uc010fwg.3	+	3	877	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	293	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACTGGCCAGCGAAGCCCCACG	0.706000														27			8		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631747	122631747	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122631747G>A	uc003efz.1	-	17	2972	c.2668C>T	c.(2668-2670)Ctg>Ttg	p.L890L	SEMA5B_uc011bju.1_Silent_p.L832L|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.L890L|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	890	TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		ACGCAGGGCAGGCCCCCGTTG	0.687000														76			42		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744553	37744553	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:37744553C>T	uc004aag.1	+	15	2568	c.2524C>T	c.(2524-2526)Cta>Tta	p.L842L	FRMPD1_uc004aah.1_Silent_p.L842L	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	842						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AAGGTCTTTCCTACAGACCGA	0.557000														52			28		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149494363	149494363	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149494363C>T	uc010lpk.3	+	45	6825	c.6825C>T	c.(6823-6825)ttC>ttT	p.F2275F		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2278					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCCCAGATTCCATTCCACAG	0.652000														67			13		0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	87080462	87080462	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:87080462C>T	uc003hps.3	-	3	911	c.225G>A	c.(223-225)caG>caA	p.Q75Q	MAPK10_uc010ikg.3_Silent_p.Q37Q|MAPK10_uc003hpr.3_Silent_p.Q37Q|MAPK10_uc003hpt.3_Silent_p.Q75Q|MAPK10_uc003hpu.3_Silent_p.Q75Q|MAPK10_uc003hpv.3_5'UTR|MAPK10_uc010ikh.1_Non-coding_Transcript|BC038746_uc003hpw.3_Intron	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	75	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding 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|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	p.Q75H(1)		breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		AAACTATGCCCTGAGCCCCAG	0.448000														119			36		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49699234	49699234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:49699234C>T	uc003jom.3	-	5	904	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	EMB_uc010ivq.3_Missense_Mutation_p.E13K|EMB_uc003jol.3_Missense_Mutation_p.E150K|EMB_uc011cpy.2_Missense_Mutation_p.E169K	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	219	Ig-like V-type 2.					integral to membrane		p.E219K(2)		breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				AGCTTTGTTTCGTTAGCATAT	0.378000														65			10		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48349722	48349722	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48349722G>A	uc003toq.2	+	23	9524	c.9500G>A	c.(9499-9501)cGa>cAa	p.R3167Q	ABCA13_uc010kys.1_Missense_Mutation_p.R241Q|ABCA13_uc003tos.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3167					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGGATGTGCGAGCTTTCATT	0.512000														197			86		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115487056	115487056	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:115487056G>A	uc001efr.3	+	23	2232	c.2023G>A	c.(2023-2025)Gaa>Aaa	p.E675K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E675K|SYCP1_uc009wgw.3_Missense_Mutation_p.E675K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	675					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)		AAAGATATCAGAAGAAAATCT	0.274000														60			16		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53839141	53839141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:53839141C>T	uc003dgv.4	+	44	5880	c.5717C>T	c.(5716-5718)cCa>cTa	p.P1906L	CACNA1D_uc003dgu.4_Missense_Mutation_p.P1926L|CACNA1D_uc003dgy.4_Missense_Mutation_p.P1882L|CACNA1D_uc003dgw.4_Missense_Mutation_p.P1573L|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1906					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CGGAGATCTCCAAGGAGACGC	0.572000														84			46		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254947	51254947	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:51254947G>A	uc021vhh.1	-	0	1386	c.465C>T	c.(463-465)gtC>gtT	p.V155V	NRXN1_uc021vhg.1_Silent_p.V155V|NRXN1_uc021vhi.1_Silent_p.V155V|NRXN1_uc021vhj.1_Silent_p.V155V|NRXN1_uc021vhk.1_Silent_p.V155V	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	155	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.K155K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCAGCCCCCCGACGAAAAGGC	0.662000														24			10		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8152010	8152010	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8152010G>A	uc002mjf.3	-	52	6722	c.6705C>T	c.(6703-6705)gtC>gtT	p.V2235V	FBN3_uc002mje.3_Silent_p.V74V	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2235	EGF-like 36; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGGGGGACAGACGCACGCGA	0.627000														59			15		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8193951	8193951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8193951G>A	uc002mjf.3	-	16	2274	c.2257C>T	c.(2257-2259)Ccc>Tcc	p.P753S		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	753	EGF-like 9; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGAAGCCGGGGGGGCAGGAG	0.602000														67			25		0	0	1	0	0
DCN	1634	broad.mit.edu	37	12	91539941	91539941	+	Missense_Mutation	SNP	G	A	A	rs138244851		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:91539941G>A	uc001tbt.3	-	7	1228	c.974C>T	c.(973-975)tCg>tTg	p.S325L	DCN_uc001tbo.3_Missense_Mutation_p.S216L|DCN_uc001tbp.3_Missense_Mutation_p.S178L|DCN_uc001tbq.3_Missense_Mutation_p.S138L|DCN_uc001tbr.3_3'UTR|DCN_uc001tbu.3_Missense_Mutation_p.S325L	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	325					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ACTCACACCCGAATAAGAAGC	0.463000														89			46		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150828306	150828306	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:150828306C>T	uc004fev.4	+	9	1171	c.839C>T	c.(838-840)cCa>cTa	p.P280L		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	280						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)					CCTGAATCTCCAGGTAGGTAC	0.373000														44			31		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24181469	24181469	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24181469G>A	uc003xdy.3	+	8	926	c.843G>A	c.(841-843)ggG>ggA	p.G281G	ADAM28_uc003xdx.3_Silent_p.G281G|ADAM28_uc011kzz.2_Silent_p.G48G|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_5'Flank	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	281	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AATGGAGGGGGAGTGTTCTCT	0.398000														72			32		0	0	1	0	0
AZGP1	563	broad.mit.edu	37	7	99564686	99564686	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99564686G>A	uc003ush.3	-	3	929	c.837C>T	c.(835-837)tcC>tcT	p.S279S		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	279	Ig-like C1-type.				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)					GCACGTGGCAGGAGTAGGGGG	0.622000														106			35		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33464952	33464952	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:33464952G>A	uc003zsz.3	-	20	2805	c.2704C>T	c.(2704-2706)Cga>Tga	p.R902*	NOL6_uc003zsy.3_5'UTR|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Nonsense_Mutation_p.R899*|NOL6_uc011lob.2_Nonsense_Mutation_p.R850*|NOL6_uc003ztb.1_Nonsense_Mutation_p.R902*	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	902					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AAAAGGAATCGAAGGAAGCCA	0.502000														59			23		0	0	1	0	0
LOC401127	401127	broad.mit.edu	37	4	39482951	39482951	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:39482951G>A	uc011byn.2	+	0		c.1077G>A								Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA.																		AACTTCAGACGAAAGAGATTG	0.438000														62			17		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64461881	64461881	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:64461881C>T	uc001xgl.3	+	22	3131	c.2901C>T	c.(2899-2901)atC>atT	p.I967I	SYNE2_uc001xgm.3_Silent_p.I967I|SYNE2_uc021ruh.1_Silent_p.I967I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	967					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAAACTTATCCGTAGAGGAA	0.294000														46			11		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401535	77401535	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:77401535G>A	uc002ffc.4	-	3	1000	c.581C>T	c.(580-582)cCt>cTt	p.P194L	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.	194					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						GTGACCCGCAGGGGAGCTGTA	0.507000														58			30		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74044075	74044075	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74044075G>A	uc002sjr.1	+	2	2846	c.2725G>A	c.(2725-2727)Gaa>Aaa	p.E909K		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	909										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CATTGAAAGGGAAAGAGATAT	0.423000														16			5		0	0	1	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253688	32253688	+	Silent	SNP	G	A	A	rs143748718		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:32253688G>A	uc002yov.3	-	0	187	c.156C>T	c.(154-156)ctC>ctT	p.L52L		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	Homo sapiens keratin associated protein 11-1 (KRTAP11-1), mRNA.	52						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGTGGTCCAGGAGCCAAGAGC	0.572000														53			16		0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122292683	122292683	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:122292683C>T	uc001ubj.3	-	6	380	c.340G>A	c.(340-342)Ggc>Agc	p.G114S	HPD_uc001ubk.3_Missense_Mutation_p.G75S	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	114					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	p.R113L(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	ATTTTGGCGCCCCGTTCCCGT	0.602000														112			15		0	0	1	0	0
C6orf201	404220	broad.mit.edu	37	6	4087912	4087912	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:4087912C>T	uc003mwa.4	+	1	805	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L	FAM217A_uc010jnq.1_5'Flank|FAM217A_uc003mvy.3_5'Flank|C6orf201_uc003mvz.4_Intron|C6orf201_uc011dhw.1_Silent_p.L13L|C6orf201_uc003mwb.4_Non-coding_Transcript	NM_001085401	NP_001078870	Q7Z4U5	CF201_HUMAN	Homo sapiens chromosome 6 open reading frame 201 (C6orf201), mRNA.	13										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TCCGAATCACCTGATGGAGAC	0.488000														279			127		0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44415559	44415559	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44415559C>T	uc001ckx.3	+	1	1350	c.555C>T	c.(553-555)taC>taT	p.Y185Y		NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	185					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TACCCCAGTACCGCAAAGGCC	0.647000														16			6		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73545474	73545474	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73545474G>A	uc001jrx.4	+	41	6180	c.5790G>A	c.(5788-5790)gaG>gaA	p.E1930E		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1933	Cadherin 18.		D -> N (in USH1D).		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						ACAACCCGGAGAATCCACGCA	0.612000														16			5		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422810	26422810	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26422810G>A	uc003abz.1	+	42	7120	c.6870G>A	c.(6868-6870)agG>agA	p.R2290R	MYO18B_uc003aca.1_Silent_p.R2171R|MYO18B_uc010guy.1_Silent_p.R2172R|MYO18B_uc010guz.1_Silent_p.R2170R|MYO18B_uc011aka.1_Silent_p.R1444R|MYO18B_uc011akb.1_Silent_p.R1803R|MYO18B_uc010gva.1_Silent_p.R273R|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2290						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.L2290L(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						CCACACTAAGGAGGGGCAGGG	0.637000														20			4		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14834375	14834375	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:14834375G>A	uc001rcd.3	-	4	785	c.648C>T	c.(646-648)ttC>ttT	p.F216F	GUCY2C_uc009zhz.2_Silent_p.F216F	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	216					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						GTTCGTGGGAGAAATAGGAAA	0.418000														64			14		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63477198	63477198	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:63477198C>T	uc002lkb.3	+	2	895	c.469C>T	c.(469-471)Cca>Tca	p.P157S	CDH7_uc002ljz.3_Missense_Mutation_p.P157S|CDH7_uc002lka.3_Missense_Mutation_p.P157S	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	157	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTTGGATGGCCCATACACGGC	0.463000														133			57		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179603649	179603649	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179603649C>T	uc010pnp.2	+	7	1702	c.1184C>T	c.(1183-1185)tCa>tTa	p.S395L	TDRD5_uc021pfm.1_Missense_Mutation_p.S395L|TDRD5_uc001gnf.2_Missense_Mutation_p.S395L|TDRD5_uc021pfn.1_Missense_Mutation_p.S395L|TDRD5_uc001gnh.2_5'UTR	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	395					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CCTAGAAATTCATTGTCTACT	0.388000														116			46		0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21396000	21396000	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:21396000G>A	uc001unq.4	-	8	1052	c.1016C>T	c.(1015-1017)tCt>tTt	p.S339F		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	339					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CACAGCTTCAGAATCTTCTAT	0.338000														45			17		0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799175	45799175	+	Silent	SNP	G	A	A	rs146049499		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:45799175G>A	uc001jcc.1	-	3	1005	c.696C>T	c.(694-696)acC>acT	p.T232T	OR13A1_uc001jcd.1_Silent_p.T228T|OR13A1_uc021ppq.1_Silent_p.T232T	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGGACGCGATGGTCATCAGGA	0.572000														82			26		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38860616	38860616	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38860616C>T	uc002oih.4	+	26	3112	c.3025C>T	c.(3025-3027)Ctc>Ttc	p.L1009F	CATSPERG_uc002oig.4_Missense_Mutation_p.L969F|CATSPERG_uc002oif.4_Missense_Mutation_p.L649F|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	1009					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TTGCAGGTGGCTCTGTCTGGA	0.512000														154			68		0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147122011	147122011	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:147122011G>A	uc001epr.2	-	7	1376	c.912C>T	c.(910-912)ttC>ttT	p.F304F	ACP6_uc009wjj.1_3'UTR	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	304					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					GGATGTGGAGGAATGGGCCTA	0.522000														45			23		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44685808	44685809	+	Splice_Site	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44685808_44685809GG>AA	uc010zxl.1	+	25	3271	c.3195_splice	c.e25-1	p.L1065_splice	SLC12A5_uc002xrb.2_Splice_Site_p.L1042_splice	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	1065					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCTGCCGCAGGAACCAGTCCA	0.629000														61			10		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1367606	1367606	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:1367606T>G	uc003boz.3	+	8	1321	c.1054T>G	c.(1054-1056)Tta>Gta	p.L352V	CNTN6_uc011asj.2_Missense_Mutation_p.L280V|CNTN6_uc003bpa.3_Missense_Mutation_p.L352V	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	352	Ig-like C2-type 4.				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)		GTATACATGGTTAAAAAATGG	0.363000														58			34		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120474838	120474838	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:120474838C>T	uc004bjz.3	+	2	723	c.432C>T	c.(430-432)ttC>ttT	p.F144F	TLR4_uc004bkb.3_5'UTR|TLR4_uc004bka.3_Silent_p.F104F	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	144					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TAGAGAACTTCCCCATTGGAC	0.408000														74			30		0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77456024	77456024	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:77456024C>T	uc002lnh.2	+	2	593	c.446C>T	c.(445-447)aCc>aTc	p.T149I	CTDP1_uc002lni.2_Missense_Mutation_p.T149I|CTDP1_uc010drd.2_Missense_Mutation_p.T149I|CTDP1_uc021ult.1_Missense_Mutation_p.T30I	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	149					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TCCACGGCGACCGTGTCCATG	0.622000														27			10		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197066061	197066061	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:197066061G>A	uc002utm.1	-	28	4842	c.4659C>T	c.(4657-4659)tcC>tcT	p.S1553S	HECW2_uc002utl.1_Silent_p.S1197S	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1553	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CATAAAGCATGGAAAAGGATG	0.453000														83			34		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447461	226447461	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:226447461G>A	uc002voe.2	+	3	1503	c.1328G>A	c.(1327-1329)gGg>gAg	p.G443E	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.G213E	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	443	Pro-rich.																GTCAGCATGGGGAGGTCCCTG	0.632000														44			25		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40357655	40357655	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40357655C>T	uc002omp.4	-	33	15666	c.15658G>A	c.(15658-15660)Gag>Aag	p.E5220K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5220						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCTTGACCTCACATACACGG	0.637000														53			23		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141803210	141803210	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141803210C>T	uc003vwy.3	+	46	5521	c.5467C>T	c.(5467-5469)Ccc>Tcc	p.P1823S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1823					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)	GGTCATAACACCCTCCTTCAA	0.493000														22			9		0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52822481	52822481	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52822481C>T	uc001saj.2	-	5	1104	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	361	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TTTGGTGTTTCGAAGGTCATC	0.527000														79			12		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349741	100349741	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100349741C>T	uc003uwj.3	+	13	2178	c.2013C>T	c.(2011-2013)tcC>tcT	p.S671S	ZAN_uc003uwk.3_Silent_p.S671S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	671	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACCACCTCCATGGAAGAGC	0.522000														69			25		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467317	74467317	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74467317G>A	uc002axg.1	+	1	400	c.118G>A	c.(118-120)Gac>Aac	p.D40N	ISLR_uc002axh.1_Missense_Mutation_p.D40N|ISLR_uc021sqf.1_Missense_Mutation_p.D40N	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	40	LRRNT.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGCCTACCGCGACCTAGAATC	0.652000														102			29		0	0	1	0	0
OXTR	5021	broad.mit.edu	37	3	8794753	8794753	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:8794753C>T	uc003brc.3	-	3	1702	c.1080G>A	c.(1078-1080)acG>acA	p.T360T		NM_000916	NP_000907	P30559	OXYR_HUMAN	Homo sapiens oxytocin receptor (OXTR), mRNA.	360					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	TGCTGGCACTCGTCTCTCCCA	0.622000														50			29		0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088523	57088523	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57088523C>T	uc002qnl.4	+	5	1402	c.726C>T	c.(724-726)acC>acT	p.T242T	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AAATCTCAACCCTTACTCTTC	0.373000														67			21		0	0	1	0	0
C14orf49	161176	broad.mit.edu	37	14	95921884	95921884	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:95921884G>A	uc001yei.4	-	4	982	c.967C>T	c.(967-969)Ctg>Ttg	p.L323L	C14orf49_uc010avi.3_Silent_p.L323L|C14orf49_uc001yej.1_Silent_p.L323L	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	323					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		AGGCCCCGCAGCCGCTCCTCC	0.622000														114			41		0	0	1	0	0
BEX1	55859	broad.mit.edu	37	X	102318005	102318005	+	Missense_Mutation	SNP	C	T	T	rs1045082		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:102318005C>T	uc022cbj.1	-	0	198	c.198G>A	c.(196-198)atG>atA	p.M66I	BEX1_uc004ejt.1_Missense_Mutation_p.M66I	NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN	Homo sapiens brain expressed, X-linked 1 (BEX1), mRNA.	66			M -> I (in dbSNP:rs1045082).		cell differentiation|nervous system development	cytoplasm|nucleus				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						GCCTATGCATCATATCCCATC	0.517000														62			117		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588011	204588011	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204588011G>A	uc021phy.1	-	0	1110	c.1110C>T	c.(1108-1110)ccC>ccT	p.P370P	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Silent_p.P370P|LRRN2_uc001hbf.1_Silent_p.P370P|LRRN2_uc009xbf.1_Silent_p.P370P|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	370	LRRCT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CACAGCGGATGGGGTTGCCGT	0.637000														69			25		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21840889	21840889	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:21840889G>T	uc003svc.3	+	62	10213	c.10182G>T	c.(10180-10182)gaG>gaT	p.E3394D		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3394	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGAACTTGAGGCAAGTTAAA	0.358000									Kartagener syndrome					25			3		0.150653	0.150659	1	1	0
WDR35	57539	broad.mit.edu	37	2	20169345	20169345	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:20169345G>A	uc002rdi.3	-	8	1012	c.904C>T	c.(904-906)Cct>Tct	p.P302S	WDR35_uc002rdj.3_Missense_Mutation_p.P302S|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_5'UTR	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	302										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTTCCAGGAACTTTCAAA	0.338000														50			26		0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8752443	8752443	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:8752443G>A	uc001mgt.3	-	2	580	c.394C>T	c.(394-396)Ctc>Ttc	p.L132F	ST5_uc009yfr.3_Intron|ST5_uc001mgu.3_Intron|ST5_uc001mgv.3_Missense_Mutation_p.L132F|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Missense_Mutation_p.L132F	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	132					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GCAAGGGGGAGGCAGGCAGCG	0.667000														75			16		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588598	247588598	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247588598C>T	uc001icr.3	+	4	1991	c.1853C>T	c.(1852-1854)gCt>gTt	p.A618V	NLRP3_uc001ics.3_Missense_Mutation_p.A618V|NLRP3_uc001icu.3_Missense_Mutation_p.A618V|NLRP3_uc001icw.3_Missense_Mutation_p.A618V|NLRP3_uc001icv.3_Missense_Mutation_p.A618V|NLRP3_uc010pyw.2_Missense_Mutation_p.A616V|NLRP3_uc001ict.1_Missense_Mutation_p.A616V	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	618					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.A618V(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAAGCCAAAGCTAAAAAGCTG	0.483000														51			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086960	9086960	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9086960C>T	uc002mkp.3	-	0	5059	c.4855G>A	c.(4855-4857)Gag>Aag	p.E1619K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1619	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						GGGCCAGTCTCAATCTCTCTG	0.512000														143			56		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35829246	35829247	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35829246_35829247CC>TT	uc010edt.3	+	5	1245_1246	c.1161_1162CC>TT	c.(1159-1164)ctcccc>ctTTcc	p.P388S	CD22_uc010edu.3_Intron|CD22_uc010edv.3_Missense_Mutation_p.P388S|CD22_uc002nzb.4_Intron|CD22_uc010xst.2_Missense_Mutation_p.P216S|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	388	Ig-like C2-type 3.				cell adhesion		protein binding|sugar binding	p.P388P(1)		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)	CAAAGATCCTCCCCTGGCACGC	0.530000														80			29		0	0	1	0	0
GLTPD1	80772	broad.mit.edu	37	1	1262938	1262938	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1262938C>T	uc001aeo.3	+	2	855	c.440C>T	c.(439-441)gCc>gTc	p.A147V	CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001ael.2_5'Flank|CPSF3L_uc001aen.1_5'Flank	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN	Homo sapiens glycolipid transfer protein domain containing 1 (GLTPD1), mRNA.	147						cytoplasm	glycolipid binding|glycolipid transporter activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCTCGCTGGCCGCCTACCAC	0.721000														10			3		0	0	1	0	0
JHDM1D	80853	broad.mit.edu	37	7	139801824	139801824	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:139801824G>A	uc003vvm.3	-	11	1569	c.1565C>T	c.(1564-1566)cCt>cTt	p.P522L	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	522					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TAGGTTAGAAGGAGTTCGGAC	0.433000														165			38		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899584	133899584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133899584C>T	uc003ytw.3	+	8	2008	c.1967C>T	c.(1966-1968)cCa>cTa	p.P656L		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	656	Thyroglobulin type-1 5.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGTGGACAGCCAAGGTGCCCC	0.547000														47			17		0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141675040	141675040	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:141675040G>A	uc003yvu.3	-	30	3232	c.2922C>T	c.(2920-2922)ctC>ctT	p.L974L	PTK2_uc011ljp.2_Silent_p.L282L|PTK2_uc003yvo.3_Silent_p.L602L|PTK2_uc011ljq.2_Silent_p.L672L|PTK2_uc003yvp.3_Silent_p.L642L|PTK2_uc003yvq.3_Silent_p.L479L|PTK2_uc003yvr.3_Silent_p.L917L|PTK2_uc003yvs.3_Silent_p.L928L|PTK2_uc011ljr.2_Silent_p.L987L|PTK2_uc003yvt.3_Silent_p.L996L|PTK2_uc003yvv.3_Silent_p.L877L	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	974	Interaction with RGNEF (By similarity).|Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGGCTGGTAGGAGGGGAATGG	0.542000														23			11		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849490	54849490	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54849490G>A	uc002qfj.3	-	3	429	c.372C>T	c.(370-372)acC>acT	p.T124T	LILRA4_uc002qfi.3_Silent_p.T58T	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	124	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTGCGGACAGGGTGGGTCTGC	0.572000														46			13		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554157	140554157	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140554157G>A	uc003lit.3	+	0	1915	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	581	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGGCGGCCGAGCCGGGCTA	0.711000														119			37		0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3147762	3147762	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:3147762G>A	uc001lxk.2	-	2	318	c.160C>T	c.(160-162)Ccg>Tcg	p.P54S	OSBPL5_uc010qxq.1_Missense_Mutation_p.P6S|OSBPL5_uc009ydw.2_Missense_Mutation_p.P54S|OSBPL5_uc001lxl.2_Missense_Mutation_p.P54S|OSBPL5_uc009ydx.3_Missense_Mutation_p.P78S|OSBPL5_uc001lxm.1_Non-coding_Transcript	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	54					Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGCAGCGACGGGCCGTTGGGC	0.657000														23			9		0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187479	123187479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:123187479G>A	uc001ucx.1	-	0	426	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	118					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	ACCACCGTGAGGAAGATGATG	0.562000														79			21		0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37580070	37580070	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:37580070G>A	uc002hrv.4	-	11	1068	c.856C>T	c.(856-858)Cct>Tct	p.P286S	MED1_uc010wee.2_Missense_Mutation_p.P114S|MED1_uc002hru.2_Missense_Mutation_p.P286S	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	286	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GAGAAGGAAGGGGTCCTTCAA	0.403000										HNSCC(31;0.082)				29			28		0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57367553	57367553	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57367553G>A	uc001nkp.1	+	2	444	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	SERPING1_uc010rju.1_Missense_Mutation_p.E33K|SERPING1_uc010rjv.1_Missense_Mutation_p.E90K|SERPING1_uc001nkr.1_Missense_Mutation_p.E85K|SERPING1_uc001nks.1_Intron	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	85	7 X 4 AA tandem repeats of [QE]-P-T-[TQ].		Missing (in HAE; type 2).		blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						taccactgatgaacccaccac	0.527000														27			6		0	0	1	0	0
PI3	5266	broad.mit.edu	37	20	43803611	43803611	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43803611G>A	uc002xng.3	+	0	72	c.48G>A	c.(46-48)ggG>ggA	p.G16G		NM_002638	NP_002629	P19957	ELAF_HUMAN	Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA.	16					copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TCATCGCTGGGACGCTGGTTC	0.577000														57			20		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113421178	113421178	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:113421178G>A	uc003ynu.3	-	32	5638	c.5479C>T	c.(5479-5481)Ctg>Ttg	p.L1827L	CSMD3_uc003yns.3_Intron|CSMD3_uc003ynt.3_Silent_p.L1787L|CSMD3_uc011lhx.2_Silent_p.L1723L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1827	CUB 10.					integral to membrane|plasma membrane				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						GAAGATAACAGAGAAGATTGC	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				130			37		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145109485	145109485	+	Missense_Mutation	SNP	C	T	T	rs149290437	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145109485C>T	uc003zar.3	-	18	2747	c.2665G>A	c.(2665-2667)Ggg>Agg	p.G889R	OPLAH_uc003zas.1_Missense_Mutation_p.G163E	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	889							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	AAGACGCCCCCCTGGACAAGT	0.647000														17			6		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13770902	13770902	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13770902G>A	uc003jfd.2	-	55	9603	c.9561C>T	c.(9559-9561)ttC>ttT	p.F3187F	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3187	Stalk (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)					CTCCATATATGAACTTATAGC	0.458000									Kartagener syndrome					61			28		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	38997691	38997691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:38997691C>T	uc011aej.1	-	3	1095	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	KCNJ6_uc002ywo.2_Missense_Mutation_p.E348K	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	348					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TAGTCAACTTCGTAGAACCCG	0.567000														77			20		0	0	1	0	0
BDH1	622	broad.mit.edu	37	3	197239115	197239115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:197239115G>A	uc003fxr.3	-	7	1085	c.683C>T	c.(682-684)cCc>cTc	p.P228L	BDH1_uc003fxs.3_Missense_Mutation_p.P228L|BDH1_uc003fxu.3_Missense_Mutation_p.P228L	NM_203314	NP_976060	Q02338	BDH_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	228					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	CACGCCCAGGGGGTACATCTC	0.622000														25			19		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327273	152327273	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152327273A>T	uc001ezw.4	-	2	3062	c.2989T>A	c.(2989-2991)Tct>Act	p.S997T	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	997	Ser-rich.						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)			CCATAATTAGACTGACTTGAT	0.488000														390			160		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83711968	83711968	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:83711968C>T	uc010vns.2	+	10	1845	c.1581C>T	c.(1579-1581)gaC>gaT	p.D527D	CDH13_uc002fgx.3_Silent_p.D480D|CDH13_uc010vnt.2_Silent_p.D226D|CDH13_uc010vnu.2_Silent_p.D441D	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	480	Cadherin 4.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TCTACCCAGACCCCATGATGG	0.612000														55			9		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71978050	71978050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:71978050G>A	uc001swl.3	+	17	2308	c.2260G>A	c.(2260-2262)Gga>Aga	p.G754R	LGR5_uc001swm.3_Missense_Mutation_p.G730R|LGR5_uc021rar.1_Missense_Mutation_p.G682R|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	754						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTTGGACAAGGGAGACCTGGA	0.483000														129			19		0	0	1	0	0
CLASRP	11129	broad.mit.edu	37	19	45563679	45563679	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45563679C>T	uc002pak.3	+	8	841	c.743C>T	c.(742-744)gCc>gTc	p.A248V	CLASRP_uc002pal.3_Non-coding_Transcript|CLASRP_uc010xxh.2_Missense_Mutation_p.A186V|CLASRP_uc002pam.3_Missense_Mutation_p.A248V|CLASRP_uc002pan.1_Non-coding_Transcript	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	Homo sapiens CLK4-associating serine/arginine rich protein (CLASRP), mRNA.	248					RNA splicing|mRNA processing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GAGGCAGAGGCCATCAAGCAT	0.592000														65			22		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23237025	23237025	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:23237025C>T	uc009vqj.1	+	13	2798	c.2653C>T	c.(2653-2655)Cgc>Tgc	p.R885C	EPHB2_uc001bge.3_Missense_Mutation_p.R886C|EPHB2_uc001bgf.3_Missense_Mutation_p.R885C|EPHB2_uc010odu.2_Missense_Mutation_p.R827C	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	885					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAAGATGATCCGCAATCCCAA	0.637000														51			12		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254708	51254708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:51254708G>A	uc021vhh.1	-	0	1625	c.704C>T	c.(703-705)tCc>tTc	p.S235F	NRXN1_uc021vhg.1_Missense_Mutation_p.S235F|NRXN1_uc021vhi.1_Missense_Mutation_p.S235F|NRXN1_uc021vhj.1_Missense_Mutation_p.S235F|NRXN1_uc021vhk.1_Missense_Mutation_p.S235F	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	235	EGF-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTCCACCACGGAGCACACACC	0.726000														19			15		0	0	1	0	0
P2RX5	5026	broad.mit.edu	37	17	3595085	3595085	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3595085C>T	uc002fwi.3	-	1	540	c.141G>A	c.(139-141)tgG>tgA	p.W47*	P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Nonsense_Mutation_p.W11*|P2RX5_uc002fwk.3_Nonsense_Mutation_p.W47*|P2RX5_uc002fwj.3_Nonsense_Mutation_p.W47*|P2RX5_uc002fwl.3_Nonsense_Mutation_p.W47*|P2RX5_uc002fwm.2_Nonsense_Mutation_p.W47*	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.	47					nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.W47L(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						TCAGGAACACCCATCTGTGGG	0.597000														77			30		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6174985	6174985	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:6174985C>T	uc003mwv.3	-	11	1698	c.1575G>A	c.(1573-1575)gtG>gtA	p.V525V	F13A1_uc011dib.2_Silent_p.V462V	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	525					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CAGCATTTTCCACTTCAAAGT	0.478000														42			24		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177247750	177247750	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:177247750C>T	uc001glf.3	+	6	1376	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	FAM5B_uc010pna.1_Missense_Mutation_p.S105F|FAM5B_uc001glg.3_Missense_Mutation_p.S250F	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	355						extracellular region				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						TTCCTGAACTCCACAGCTATC	0.562000														236			71		0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084349	248084349	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248084349C>T	uc010pzc.2	+	0	30	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTCTTATTTCATTCTCCTAG	0.413000														84			31		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	95485	95485	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000209.1:95485C>T	uc002quk.1	+	7	926	c.871C>T	c.(871-873)Caa>Taa	p.Q291*	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_5'Flank	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	291							receptor activity										CTCTGATGATCAAGACCCTCA	0.498000														222			81		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764208	92764208	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92764208C>T	uc003umh.1	-	4	2293	c.1077G>A	c.(1075-1077)cgG>cgA	p.R359R	SAMD9L_uc003umj.1_Silent_p.R359R|SAMD9L_uc003umi.1_Silent_p.R359R|SAMD9L_uc010lfb.1_Silent_p.R359R|SAMD9L_uc003umk.1_Silent_p.R359R|SAMD9L_uc010lfc.1_Silent_p.R359R|SAMD9L_uc010lfd.1_Silent_p.R359R|SAMD9L_uc022ahh.1_Silent_p.R359R	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	359								p.R359L(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AATCTACATCCCGTTGCTTGG	0.368000														211			33		0	0	1	0	0
PRPF4	9128	broad.mit.edu	37	9	116053831	116053831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116053831C>T	uc004bgx.3	+	13	1570	c.1460C>T	c.(1459-1461)aCt>aTt	p.T487I	PRPF4_uc004bgy.3_Missense_Mutation_p.T486I	NM_004697	NP_004688	O43172	PRP4_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.	487						Cajal body|U4/U6 snRNP|nuclear speck|spliceosomal complex	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						CCGCTGAAGACTCTGGCTGGC	0.522000														103			10		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52539740	52539740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:52539740G>A	uc010bff.3	-	14	1958	c.1796C>T	c.(1795-1797)cCt>cTt	p.P599L	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	599	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGAACCAAAAGGAGAAGGAGG	0.438000														79			30		0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134179613	134179613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:134179613G>A	uc009zdf.3	+	10	1415	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E	GLB1L3_uc010scu.1_Missense_Mutation_p.G53E|GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	352					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TTCATGAACGGGGCCACATAT	0.483000														18			6		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519127	113519127	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:113519127C>T	uc010ljy.1	-	3	2051	c.2020G>A	c.(2020-2022)Gag>Aag	p.E674K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	674					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTGATATGCTCTGTTATGTTT	0.373000														272			58		0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52775247	52775247	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52775247G>A	uc001sah.1	-	4	1023	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	325	Linker 12.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGGTCACGGCTGTTGTCCA	0.557000														162			85		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467747	10467747	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10467747C>T	uc003wtc.3	-	3	4090	c.3861G>A	c.(3859-3861)tcG>tcA	p.S1287S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1287					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)		GCTCCAGGTTCGAGCTCGCCC	0.522000														174			21		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32137827	32137827	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:32137827C>T	uc001rks.3	+	3	4352	c.3938C>T	c.(3937-3939)tCt>tTt	p.S1313F		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1313										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			ATGACAGCATCTTATGAACAA	0.348000														77			16		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39821156	39821156	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39821156G>A	uc010lwy.1	+	2	410	c.168G>A	c.(166-168)tgG>tgA	p.W56*	IDO2_uc003xno.1_Non-coding_Transcript	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	43					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						ATAGGCCTTGGATGGAAATTG	0.398000														16			6		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70672748	70672748	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:70672748G>A	uc003pfc.1	+	10	1129	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	COL19A1_uc010kam.2_Missense_Mutation_p.E234K	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	338	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CAGCAAAGGAGAAACTGGTGA	0.284000														42			17		0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158974352	158974353	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:158974352_158974353CC>TT	uc002tzo.3	+	5	547_548	c.527_528CC>TT	c.(526-528)ccc>cTT	p.P176L	UPP2_uc002tzp.3_Missense_Mutation_p.P119L	NM_001135098	NP_775491	O95045	UPP2_HUMAN	Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.	119					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	p.Q175E(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						ATGGGCATCCCCTCCATTTCTA	0.411000														102			12		0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76829014	76829014	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:76829014C>T	uc003ugb.3	-	0	137	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	33					signal transduction	fibrinogen complex	receptor binding	p.D32N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TTTGCTCTTTCATCTTTAATT	0.488000														109			20		0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978659	10978659	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10978659G>A	uc001qyy.1	-	0	210	c.210C>T	c.(208-210)ttC>ttT	p.F70F		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	70					sensory perception of taste	integral to membrane	taste receptor activity	p.I69V(1)		breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TATTTGGAGAGAATATCTGTA	0.333000														44			18		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54844923	54844923	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54844923G>A	uc002qfj.3	-	7	1477	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S	LILRA4_uc002qfi.3_Missense_Mutation_p.P408S	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	474						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CACCTTGGGGGGCTTCTCTGG	0.547000														71			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056224	9056224	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9056224C>T	uc002mkp.3	-	2	31426	c.31222G>A	c.(31222-31224)Gga>Aga	p.G10408R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10410	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						GTCACTGTTCCCAGCTCAACG	0.478000														202			45		0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22039149	22039149	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22039149C>T	uc010gtj.1	+	9	777	c.661C>T	c.(661-663)Ctg>Ttg	p.L221L	PPIL2_uc002zvh.4_Silent_p.L221L|PPIL2_uc002zvi.4_Silent_p.L221L|PPIL2_uc002zvg.4_Silent_p.L221L|PPIL2_uc011aij.2_Silent_p.L200L|PPIL2_uc002zvk.4_5'Flank	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	221					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GGACGAGATTCTGGCAGCCAC	0.562000														39			24		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41004579	41004579	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41004579G>A	uc003jmj.4	-	36	4553	c.4063C>T	c.(4063-4065)Cac>Tac	p.H1355Y	HEATR7B2_uc003jmi.4_Missense_Mutation_p.H910Y	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1355							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						CGAGCTAGGTGATACAGGCCT	0.403000														64			28		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177249815	177249815	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:177249815C>T	uc001glf.3	+	7	1815	c.1503C>T	c.(1501-1503)aaC>aaT	p.N501N	FAM5B_uc001glg.3_Silent_p.N396N	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	501						extracellular region				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						CCCTGGAAAACTTTCTTGGGC	0.577000														73			15		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680491	128680491	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:128680491G>A	uc010sbu.2	+	8	1310	c.967G>A	c.(967-969)Gag>Aag	p.E323K	FLI1_uc010sbt.2_Missense_Mutation_p.E130K|FLI1_uc010sbv.2_Missense_Mutation_p.E290K|FLI1_uc009zci.3_Missense_Mutation_p.E257K	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	323				E -> Q (in Ref. 4; AAB23637 and 5; AAA58479/AAA58480).	hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G322G(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GCGCTGGGGCGAGCGGAAAAG	0.552000			T	EWSR1	Ewing sarcoma									28			12		0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150731895	150731895	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150731895C>T	uc003wil.4	+	5	888	c.795C>T	c.(793-795)tcC>tcT	p.S265S	ABCB8_uc003wii.2_Silent_p.S285S|ABCB8_uc010lpw.1_Silent_p.S67S|ABCB8_uc010lpx.3_Silent_p.S248S|ABCB8_uc011kvd.2_Silent_p.S160S|ABCB8_uc003wim.4_Silent_p.S43S|ABCB8_uc003wik.4_Silent_p.S248S	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA.	265	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.S248S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTAAGTCATCCTTCAAGCTTG	0.572000														44			10		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55935584	55935584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55935584C>T	uc003pcs.3	-	20	2210	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K	COL21A1_uc010jzz.3_Missense_Mutation_p.E45K|COL21A1_uc011dxg.2_Missense_Mutation_p.E45K|COL21A1_uc011dxh.2_Missense_Mutation_p.E45K|COL21A1_uc003pcr.3_Silent_p.V17V	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	660					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATTCCAGGTTCACCTTTGCTT	0.328000														24			7		0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22926370	22926370	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:22926370C>T	uc003xcu.2	-	0	331	c.38G>A	c.(37-39)gGg>gAg	p.G13E	LOC286059_uc003xcw.1_Intron|TNFRSF10B_uc011kzq.1_5'UTR|TNFRSF10B_uc003xcv.2_5'UTR|TNFRSF10B_uc003xct.2_Missense_Mutation_p.G13E	NM_003842	NP_003833	O14763	TR10B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10b (TNFRSF10B), transcript variant 1, mRNA.	13					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	TRAIL binding|caspase activator activity|receptor activity			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TTTCCGGGCCCCCGAAGCGGC	0.677000														33			23		0	0	1	0	0
SLC25A32	81034	broad.mit.edu	37	8	104412716	104412716	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:104412716G>A	uc003yll.3	-	6	1174	c.871C>T	c.(871-873)Cca>Tca	p.P291S	SLC25A32_uc011lhr.2_Missense_Mutation_p.P159S	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	Homo sapiens solute carrier family 25, member 32 (SLC25A32), nuclear gene encoding mitochondrial protein, mRNA.	291					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	CAGCAGGCTGGAGTCACTCTA	0.368000														140			13		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163241435	163241435	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:163241435C>T	uc002uch.2	-	12	2954	c.2725G>A	c.(2725-2727)Gat>Aat	p.D909N		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	909					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCTTCAGGATCATTTGTACTG	0.338000														70			36		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81172151	81172151	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:81172151C>T	uc002bfw.1	+	3	596	c.336C>T	c.(334-336)gcC>gcT	p.A112A	KIAA1199_uc010unn.1_Silent_p.A112A	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	112	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGGGAGTGCCCTCTGCCCTT	0.517000														92			10		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51921498	51921498	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:51921498C>T	uc003pah.1	-	17	1967	c.1691G>A	c.(1690-1692)cGa>cAa	p.R564Q	PKHD1_uc003pai.3_Missense_Mutation_p.R564Q	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	564					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GACAGCACCTCGTTCAAATCC	0.408000														91			39		0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158669801	158669801	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158669801G>A	uc001fsu.1	-	0	642	c.642C>T	c.(640-642)ctC>ctT	p.L214L		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ACATGAAGATGAGCATCACAG	0.493000														80			46		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64484025	64484025	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:64484025C>T	uc003jtp.3	-	21	3542	c.2728G>A	c.(2728-2730)Gaa>Aaa	p.E910K	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	910	TSP type-1 3.				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)		TTGCTGCATTCCAACCAATCC	0.498000														135			37		0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17550869	17550869	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17550869C>T	uc001bah.1	+	3	446	c.354C>T	c.(352-354)tcC>tcT	p.S118S		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	118					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CAGATATTTCCCTTGAGGTTG	0.592000														23			11		0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51943380	51943380	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:51943380G>A	uc001vfk.3	-	15	2785	c.2171C>T	c.(2170-2172)tCa>tTa	p.S724L	INTS6_uc001vfi.3_Missense_Mutation_p.S408L|INTS6_uc001vfj.3_Missense_Mutation_p.S711L|INTS6_uc001vfl.3_Missense_Mutation_p.S546L	NM_012141	NP_001035026	Q9UL03	INT6_HUMAN	Homo sapiens integrator complex subunit 6 (INTS6), transcript variant 1, mRNA.	724					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	p.S724L(2)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AATGTCTGATGAAAGTTGGTC	0.388000														64			9		0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57290234	57290234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:57290234C>T	uc002ixi.3	+	2	2092	c.2050C>T	c.(2050-2052)Cct>Tct	p.P684S		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	684					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AGAAAAAGAACCTCAAACCCA	0.468000														186			56		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13845085	13845085	+	Missense_Mutation	SNP	C	T	T	rs146830682		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13845085C>T	uc003jfd.2	-	31	5174	c.5132G>A	c.(5131-5133)cGa>cAa	p.R1711Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1711	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1711Q(2)		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)					AAAGCACAGTCGTTTTTTCTC	0.453000									Kartagener syndrome					52			9		0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583659	145583659	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145583659C>T	uc003zcc.2	+	2	671	c.507C>T	c.(505-507)cgC>cgT	p.R169R	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Silent_p.R169R|SLC52A2_uc010mfy.2_Silent_p.R169R|SLC52A2_uc011llc.2_Silent_p.R81R|SLC52A2_uc003zcd.2_Silent_p.R169R	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	169						integral to plasma membrane	receptor activity|riboflavin transporter activity										GTGTGGGCCGCCTCGAGTGCC	0.667000														110			27		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600079	29600079	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29600079C>T	uc001usl.4	+	0	1332	c.1274C>T	c.(1273-1275)tCa>tTa	p.S425L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	415						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGCAAAATTTCACCATGTGCA	0.507000														23			14		0	0	1	0	0
FA2H	79152	broad.mit.edu	37	16	74750319	74750319	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:74750319G>A	uc002fde.2	-	5	1041	c.965C>T	c.(964-966)tCg>tTg	p.S322L	FA2H_uc002fdd.2_Missense_Mutation_p.S95L|FA2H_uc010vmy.2_Non-coding_Transcript	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	322					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CTTGTGCGGCGAGCCAAAGTG	0.602000														33			23		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457833	45457833	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:45457833G>A	uc001rol.3	-	0		c.1362C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		GCTTTGTTTAGGCGAAAGGTC	0.458000														130			38		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90500527	90500527	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90500527G>A	uc004app.4	+	3	1160	c.1125G>A	c.(1123-1125)atG>atA	p.M375I	FAM75E1_uc004apo.1_Missense_Mutation_p.M187I	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	375						integral to membrane											GAGCACTGATGAAGATGTGGC	0.562000														55			40		0	0	1	0	0
PRSS22	64063	broad.mit.edu	37	16	2903927	2903927	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2903927C>T	uc002cry.1	-	4	722	c.656G>A	c.(655-657)gGa>gAa	p.G219E		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	219	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						AGTGATGGGTCCCTGTCCTGC	0.637000														48			20		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207758014	207758014	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207758014C>T	uc001hfy.3	+	24	4113	c.3973C>T	c.(3973-3975)Cca>Tca	p.P1325S	CR1_uc009xcl.1_Missense_Mutation_p.P875S|CR1_uc001hfx.3_Missense_Mutation_p.P1775S|CR1_uc021pij.1_Missense_Mutation_p.P1325S	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1325	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCAAATCCTCCAGCTATCCT	0.388000														117			31		0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111887485	111887485	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:111887485G>A	uc001pml.3	+	18	2121	c.1824G>A	c.(1822-1824)cgG>cgA	p.R608R	DIXDC1_uc001pmm.3_Silent_p.R397R|DIXDC1_uc001pmn.3_Silent_p.R315R|DIXDC1_uc010rwq.2_Silent_p.R274R	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1, mRNA.	609	DIX.				Wnt receptor signaling pathway|multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TCACTGACCGGTCACTTACGC	0.438000														8			6		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921236	24921236	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24921236C>T	uc001ywo.3	+	0	696	c.222C>T	c.(220-222)ctC>ctT	p.L74L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	74					cell differentiation|multicellular organismal development|spermatogenesis			p.P73N(1)		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)		CGTGTCCTCTCCCTCGGGCTG	0.711000														38			15		0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95518576	95518576	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95518576C>T	uc001kjc.4	+	1	611	c.275C>T	c.(274-276)tCg>tTg	p.S92L	LGI1_uc021pwk.1_Missense_Mutation_p.S92L|LGI1_uc010qnv.2_Missense_Mutation_p.S92L|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	92					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TTCACGCCATCGCTGCAGCTC	0.313000														52			30		0	0	1	0	0
C9orf139	401563	broad.mit.edu	37	9	139929438	139929438	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139929438G>A	uc004ckp.1	+	2	2019	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	Homo sapiens chromosome 9 open reading frame 139 (C9orf139), mRNA.	169										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGAAAGAAAAGGGCATGAGTC	0.622000														114			13		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390061	48390061	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48390061C>T	uc001jez.3	-	0	931	c.817G>A	c.(817-819)Gag>Aag	p.E273K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	273	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AAGTCAGACTCGCCTATCCTC	0.677000														25			10		0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15565261	15565261	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15565261G>A	uc002nbe.2	-	12	2157	c.2071C>T	c.(2071-2073)Ccc>Tcc	p.P691S	RASAL3_uc002nbd.3_Missense_Mutation_p.P31S	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	691					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TAACCACTGGGGGCAGCATCC	0.557000											OREG0025322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			17		0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108998338	108998338	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:108998338G>A	uc002tea.1	+	1	663	c.290G>A	c.(289-291)gGa>gAa	p.G97E	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Missense_Mutation_p.G97E	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	97					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CCATCCTTAGGATCTGGTGAG	0.373000														76			18		0	0	1	0	0
RSAD2	91543	broad.mit.edu	37	2	7018127	7018127	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:7018127C>T	uc002qyp.1	+	0	332	c.196C>T	c.(196-198)Cct>Tct	p.P66S		NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 2 (RSAD2), mRNA.	66					defense response to virus	Golgi apparatus|endoplasmic reticulum membrane	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GGAAGAGGACCCTCCTCTGCC	0.552000														57			23		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196737056	196737056	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196737056G>A	uc002utj.4	-	39	6652	c.6551C>T	c.(6550-6552)tCc>tTc	p.S2184F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2184	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.F2183F(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATGACACGGGAGAAATCACG	0.388000														165			13		0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26581740	26581740	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26581740C>T	uc001bls.1	+	3	418	c.287C>T	c.(286-288)cCt>cTt	p.P96L	CEP85_uc001blr.3_Missense_Mutation_p.P96L|CEP85_uc010ofa.1_Missense_Mutation_p.P45L	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	Homo sapiens centrosomal protein 85kDa (CEP85), mRNA.	96						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CATGTGATGCCTTCTACTTTA	0.498000														282			124		0	0	1	0	0
RBM39	9584	broad.mit.edu	37	20	34312576	34312576	+	Silent	SNP	G	A	A	rs151187023		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34312576G>A	uc002xeb.3	-	7	1012	c.603C>T	c.(601-603)ttC>ttT	p.F201F	RBM39_uc002xdz.3_Silent_p.F177F|RBM39_uc010gfn.3_Silent_p.F44F|RBM39_uc002xef.3_Silent_p.F44F|RBM39_uc010zvn.2_Silent_p.F44F|RBM39_uc002xec.3_Silent_p.F201F|RBM39_uc010zvm.2_Silent_p.F179F|RBM39_uc002xeg.3_Silent_p.F179F|RBM39_uc002xed.3_5'UTR|RBM39_uc002xee.3_Silent_p.F44F	NM_184234	NP_909122	Q14498	RBM39_HUMAN	Homo sapiens RNA binding motif protein 39 (RBM39), transcript variant 1, mRNA.	201	RRM 1.				RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nuclear speck	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TAACATCGACGAACTCCACAT	0.413000														83			42		0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13936915	13936915	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:13936915C>T	uc001avd.3	+	2	512	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	PDPN_uc001avc.3_Missense_Mutation_p.R155C|PDPN_uc009vob.3_Missense_Mutation_p.R37C|PDPN_uc009voc.3_Missense_Mutation_p.R37C|PDPN_uc001ave.3_Missense_Mutation_p.R37C|PDPN_uc001avf.3_Missense_Mutation_p.R37C	NM_006474	NP_001006625	Q86YL7	PDPN_HUMAN	Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.	79					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		AACAGGCATTCGCATCGAGGA	0.478000														93			36		0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109293228	109293228	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:109293228C>T	uc001tnr.4	+	9	1560	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	DAO_uc001tnq.4_Missense_Mutation_p.R231C|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	297					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						AGAACAGCTTCGCACTGGACC	0.498000														29			15		0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86198601	86198601	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:86198601G>A	uc001taf.1	-	1	1526	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	396					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGAGTAAAGGGAGGAATCTC	0.428000														122			17		0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27220706	27220706	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:27220706G>A	uc003nja.3	+	8	1143	c.1128G>A	c.(1126-1128)caG>caA	p.Q376Q	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Silent_p.Q119Q|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_Silent_p.Q153Q|PRSS16_uc010jqr.1_Silent_p.Q127Q|PRSS16_uc003njd.3_Intron	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	376					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGTTGTATCAGACATGTACCG	0.502000														125			58		0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9009324	9009324	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:9009324G>A	uc001apm.3	+	1	106	c.82G>A	c.(82-84)Ggg>Agg	p.G28R	CA6_uc021ofu.1_Non-coding_Transcript|CA6_uc009vmn.3_Intron	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	28					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCTTAGAAGGGGCACTGGA	0.642000														32			7		0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917519	48917519	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48917519G>A	uc002isv.4	+	1	1564	c.870G>A	c.(868-870)cgG>cgA	p.R290R	WFIKKN2_uc010dbu.3_Silent_p.R197R	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	290	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCACGGCCCGGAACGTGGCTG	0.622000														56			19		0	0	1	0	0
DYDC2	84332	broad.mit.edu	37	10	82126582	82126582	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:82126582C>T	uc001kca.1	+	4	789	c.409C>T	c.(409-411)Cct>Tct	p.P137S	DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Missense_Mutation_p.P137S	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Homo sapiens DPY30 domain containing 2 (DYDC2), mRNA.	137							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			TCAACAGGTTCCTCCTTCAGA	0.473000														126			52		0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56822682	56822682	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56822682G>A	uc001slf.2	-	10	1457	c.1289C>T	c.(1288-1290)gCc>gTc	p.A430V	TIMELESS_uc001slg.2_Missense_Mutation_p.A429V	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	430					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.A429D(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TGCCCAGGAGGCAGCTTCCTT	0.522000														44			29		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711077	140711077	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140711077G>A	uc003lji.2	+	0	826	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	PCDHGC5_uc011dan.2_Missense_Mutation_p.E276K	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	276	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)			AGCCAATGGGGAAGTAACGTA	0.438000														51			19		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120150415	120150415	+	Silent	SNP	G	A	A	rs147828404		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:120150415G>A	uc001txj.2	-	35	4721	c.4665C>T	c.(4663-4665)ctC>ctT	p.L1555L	CIT_uc001txh.2_Silent_p.L1032L|CIT_uc001txi.2_Silent_p.L1513L	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1513	PH.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGTATTTGCGAGTTCGGAAG	0.607000														73			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179413153	179413153	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179413153C>T	uc021vsy.1	-	287	85721	c.85496G>A	c.(85495-85497)aGt>aAt	p.S28499N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S22194N|TTN_uc021vta.1_Missense_Mutation_p.S22127N|TTN_uc021vtb.1_Missense_Mutation_p.S22002N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29426	Ig-like 132.						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)			GCATTTTTCACTGATAACCTG	0.483000														215			56		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114277282	114277283	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:114277282_114277283CC>TT	uc003ibe.4	+	37	7608_7609	c.7508_7509CC>TT	c.(7507-7509)gcc>gTT	p.A2503V	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.A2518V	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2470					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACGGAAGTGGCCTCTGTGCGGT	0.535000														108			24		0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75192536	75192536	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:75192536G>A	uc003uds.2	-	9	880	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L	HIP1_uc011kfz.2_Silent_p.L279L	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	279					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAGTACTGCAGGTTGCTGGAG	0.582000			T	PDGFRB	CMML									72			9		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142099585	142099585	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142099585G>A	uc003vyz.1	-	1	217	c.217C>T	c.(217-219)Caa>Taa	p.Q73*	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Nonsense_Mutation_p.Q73*					SubName: Full=Uncharacterized protein;																		TTGTCTAGTTGAGCTTCATTC	0.527000														61			17		0	0	1	0	0
IFT57	55081	broad.mit.edu	37	3	107937477	107937477	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:107937477A>G	uc021xcc.1	-	2	545	c.492T>C	c.(490-492)ccT>ccC	p.P164P	IFT57_uc003dwx.4_Silent_p.P133P	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas) (IFT57), mRNA.	133					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)			TTAATTTTGAAGGAGGAAAAT	0.328000														40			11		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36230669	36230669	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:36230669G>A	uc003gsq.2	-	1	778	c.440C>T	c.(439-441)tCt>tTt	p.S147F	ARAP2_uc003gsr.1_Missense_Mutation_p.S147F	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	147					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						TTTAGGAGGAGACAGCTTATC	0.413000														62			26		0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70281924	70281924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:70281924C>T	uc001vip.3	-	9	2814	c.2020G>A	c.(2020-2022)Gat>Aat	p.D674N	KLHL1_uc010thm.2_Missense_Mutation_p.D613N	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	674					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTTTTGGGATCATATCTAAAA	0.368000														51			13		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28539966	28539966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28539966C>T	uc003nlo.3	-	3	4318	c.3700G>A	c.(3700-3702)Gaa>Aaa	p.E1234K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1234					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.D1233V(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttcaatccttcgtcggtagcc	0.328000														50			19		0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56057844	56057844	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56057844C>T	uc010rje.2	-	0	695	c.695G>A	c.(694-696)gGa>gAa	p.G232E		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G232G(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTTCTGCTTTCCTGAAGTGGA	0.383000														100			48		0	0	1	0	0
AMY2A	279	broad.mit.edu	37	1	104160591	104160591	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:104160591G>A	uc001dut.3	+	1	248	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	AMY2A_uc010ouq.1_Missense_Mutation_p.E62K	NM_000699	NP_000690	P04746	AMYP_HUMAN	Homo sapiens amylase, alpha 2A (pancreatic) (AMY2A), mRNA.	62					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	TCCACCAAATGAAAATGTTGC	0.328000														170			39		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124437990	124437990	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124437990C>T	uc003ehg.3	+	59	8761	c.8634C>T	c.(8632-8634)tcC>tcT	p.S2878S	KALRN_uc003ehk.3_Silent_p.S1181S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2877	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTGGGGTCTCCCCCTTCTTGG	0.527000														35			21		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46967040	46967040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:46967040C>T	uc003gxg.3	-	7	2064	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	GABRA4_uc021xnz.1_Missense_Mutation_p.E342K|GABRA4_uc021xoa.1_Missense_Mutation_p.E291K	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	361					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			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCGGGAACTTCCTGAGGGGGC	0.443000														62			34		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60696263	60696263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60696263C>T	uc001nqi.3	+	3	890	c.697C>T	c.(697-699)Cca>Tca	p.P233S	TMEM132A_uc001nqj.3_Missense_Mutation_p.P233S|TMEM132A_uc001nqk.3_Missense_Mutation_p.P246S|TMEM132A_uc001nql.1_Missense_Mutation_p.P246S	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	233						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCAGGCCCTCCCAGTGGGGGG	0.701000														22			11		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219299355	219299356	+	Missense_Mutation	DNP	GG	AA	AA	rs143261714	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219299355_219299356GG>AA	uc002vib.3	+	12	1629_1630	c.1607_1608GG>AA	c.(1606-1608)cgg>cAA	p.R536Q	VIL1_uc010zke.2_Missense_Mutation_p.R225Q|VIL1_uc002via.3_Missense_Mutation_p.R536Q	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	536	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCCCAGCGCGGGCCAATTTCC	0.564000														90			31		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143104761	143104761	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143104761C>T	uc003wcz.3	-	1	180	c.93G>A	c.(91-93)atG>atA	p.M31I	LOC285965_uc003wda.3_5'Flank	NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	31						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TGCTTGTGTCCATCAGAGTAA	0.562000														192			77		0	0	1	0	0
DOC2A	8448	broad.mit.edu	37	16	30020383	30020383	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30020383G>A	uc002dvn.3	-	4	652	c.461C>T	c.(460-462)cCc>cTc	p.P154L	BOLA2_uc010bzb.1_Intron|DOC2A_uc010vef.2_Non-coding_Transcript|DOC2A_uc002dvo.3_Missense_Mutation_p.P154L|DOC2A_uc002dvp.3_Missense_Mutation_p.P154L|DOC2A_uc002dvq.3_Missense_Mutation_p.P154L	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	Homo sapiens double C2-like domains, alpha (DOC2A), mRNA.	154	C2 1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						ATTCCACACGGGATTCAGTGT	0.567000														51			8		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160977153	160977153	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:160977153C>T	uc003qtl.3	-	30	4997	c.4877G>A	c.(4876-4878)gGc>gAc	p.G1626D		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4134	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGAGAATGTGCCTCGATAACT	0.483000														149			27		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105803263	105803263	+	Silent	SNP	G	A	A	rs148868816		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105803263G>A	uc001kxr.3	-	34	2680	c.2511C>T	c.(2509-2511)gcC>gcT	p.A837A		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	837	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACTGACCTGGGGCACCTGGAG	0.557000														29			14		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23810624	23810624	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:23810624G>A	uc003sws.4	+	14	1781	c.1714_splice	c.e14-1	p.D572_splice	STK31_uc003swt.4_Splice_Site_p.D549_splice|STK31_uc011jze.2_Splice_Site_p.D572_splice|STK31_uc010kuq.3_Splice_Site_p.D549_splice	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	572							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTCATTTAGGATCAAGGTGA	0.338000														88			41		0	0	1	0	0
TMEM45B	120224	broad.mit.edu	37	11	129722454	129722454	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:129722454C>T	uc001qfe.1	+	1	138	c.77C>T	c.(76-78)cCg>cTg	p.P26L	TMEM45B_uc001qff.1_Missense_Mutation_p.P26L	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	Homo sapiens transmembrane protein 45B (TMEM45B), mRNA.	26						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GTGAAGTACCCGCTGAAGTAC	0.493000														105			13		0	0	1	0	0
AP5B1	91056	broad.mit.edu	37	11	65545600	65545600	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65545600G>A	uc001ofo.4	-	0	2223	c.2193C>T	c.(2191-2193)tcC>tcT	p.S731S		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	Homo sapiens adaptor protein 5 (DKFZp761E198), mRNA.	731							protein binding			lung(1)	1						CTGGCAGGCAGGAATCCCAGA	0.632000														88			38		0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15547702	15547702	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15547702G>A	uc002nbb.4	-	2	658	c.444C>T	c.(442-444)ttC>ttT	p.F148F		NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	984						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GGGAGGTCAGGAAGCTGCCAG	0.682000														29			7		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189875434	189875434	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189875434C>T	uc002uqj.1	+	49	4189	c.4072C>T	c.(4072-4074)Cga>Tga	p.R1358*		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1358	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGCATTCCTTCGACTTCTCTC	0.428000														115			26		0	0	1	0	0
MIR31HG	554202	broad.mit.edu	37	9	21455665	21455665	+	RNA	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21455665C>A	uc003zpe.2	-	3		c.750G>T								Homo sapiens MIR31 host gene (non-protein coding) (MIR31HG), non-coding RNA.																		ACTTCAGATTCCCCCAGGAGA	0.502000														14			10		7.48243e-07	7.49854e-07	1	1	0
COL4A2	1284	broad.mit.edu	37	13	111156291	111156291	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:111156291C>T	uc001vqx.3	+	43	4525	c.4236C>T	c.(4234-4236)ccC>ccT	p.P1412P		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1412	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCGAGGCCCCCCTGGGGCAC	0.736000														55			5		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38704876	38704876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38704876G>A	uc021yzh.1	+	5	905	c.796G>A	c.(796-798)Gga>Aga	p.G266R	DNAH8_uc003ooe.2_Missense_Mutation_p.G49R	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCGTCGAAAGGACTCTTAAA	0.398000														92			31		0	0	1	0	0
CCDC113	29070	broad.mit.edu	37	16	58312481	58312481	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:58312481C>T	uc002ene.3	+	7	1066	c.987C>T	c.(985-987)atC>atT	p.I329I	CCDC113_uc010vid.2_Silent_p.I275I	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA.	329						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GGGAGAAGATCTTAAATGCGG	0.572000														45			19		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17010355	17010355	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17010355G>A	uc002nfb.3	-	36	4952	c.4920C>T	c.(4918-4920)ctC>ctT	p.L1640L	CPAMD8_uc010xpj.1_5'Flank|CPAMD8_uc002nfd.1_Silent_p.L105L	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1593						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCTTGTCAAGGAGCAGCTGCA	0.577000														42			15		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7416873	7416873	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7416873C>T	uc002ghf.4	+	28	5676	c.5290C>T	c.(5290-5292)Ccg>Tcg	p.P1764S		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1764	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CAGCTACAGCCCGACATCACC	0.542000														205			121		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117968808	117968808	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117968808C>T	uc001two.2	-	11	1708	c.1653G>A	c.(1651-1653)ccG>ccA	p.P551P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	580					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTCCGGCACCGGCACCACAT	0.552000														119			48		0	0	1	0	0
CGA	1081	broad.mit.edu	37	6	87796037	87796037	+	Silent	SNP	C	T	T	rs142907318		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:87796037C>T	uc003plj.2	-	2	346	c.204G>A	c.(202-204)aaG>aaA	p.K68K	CGA_uc021zci.1_Silent_p.K99K	NM_000735	NP_000726	P01215	GLHA_HUMAN	Homo sapiens glycoprotein hormones, alpha polypeptide (CGA), transcript variant 2, mRNA.	68					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		ACATCGTCTTCTTGGACCTTA	0.493000														126			51		0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59323895	59323895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:59323895C>T	uc002afv.3	+	1	1153	c.874C>T	c.(874-876)Ccc>Tcc	p.P292S	RNF111_uc002afs.3_Missense_Mutation_p.P292S|RNF111_uc002aft.3_Missense_Mutation_p.P292S|RNF111_uc002afu.3_Missense_Mutation_p.P292S|RNF111_uc002afw.3_Missense_Mutation_p.P292S	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	292	Interaction with AXIN1.|Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TCCAGCTGTTCCCTCAGGTAA	0.368000														92			37		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13700828	13700828	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13700828C>T	uc003jfd.2	-	77	13686	c.13644G>A	c.(13642-13644)agG>agA	p.R4548R	DNAH5_uc003jfc.2_Silent_p.R716R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4548					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)					GTTTCATGTTCCTCTTGTCCC	0.423000									Kartagener syndrome					186			84		0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81599243	81599243	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:81599243C>T	uc003uhr.1	-	27	2518	c.2262G>A	c.(2260-2262)agG>agA	p.R754R	CACNA2D1_uc011kgy.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	766						voltage-gated calcium channel complex	metal ion binding	p.R754T(1)		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)	TATCTAGGCTCCTTTTATAGA	0.338000														81			21		0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170068224	170068224	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:170068224G>A	uc003qwx.3	-	4	1034	c.514C>T	c.(514-516)Cca>Tca	p.P172S	WDR27_uc021zio.1_Missense_Mutation_p.P172S|WDR27_uc003qwy.3_Intron|WDR27_uc011egw.1_Intron	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN	Homo sapiens WD repeat domain 27 (WDR27), transcript variant 1, mRNA.	152										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GTCGGTGGTGGGACTTTGTGG	0.517000														29			22		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234873392	234873392	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234873392C>T	uc002vvh.3	+	13	1910	c.1870C>T	c.(1870-1872)Cgg>Tgg	p.R624W	TRPM8_uc010fyj.3_Missense_Mutation_p.R312W	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	624						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GTACGAGACCCGGGCTGTTGG	0.582000														72			20		0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3129117	3129117	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3129117G>A	uc021vzx.1	-	0	600	c.600C>T	c.(598-600)ctC>ctT	p.L200L	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Silent_p.L200L	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	200					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GGGTATCAAAGAGCTGTATCT	0.463000														109			27		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164584	139164584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:139164584C>T	uc003yuy.3	-	12	2305	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	FAM135B_uc003yux.3_Missense_Mutation_p.E613K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E274K|FAM135B_uc003yvb.3_Missense_Mutation_p.E274K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	712										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)			TGCAAGACTTCCCGATCACTG	0.552000										HNSCC(54;0.14)				27			9		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54922002	54922002	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:54922002C>T	uc003dhf.3	+	23	2121	c.2073C>T	c.(2071-2073)atC>atT	p.I691I	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.I597I|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	691						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AAGAATTGATCCAAGAAGTCC	0.532000														62			40		0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44250212	44250212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:44250212C>T	uc003oxi.2	-	3	1087	c.931G>A	c.(931-933)Gag>Aag	p.E311K	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	311										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAGTCCAGCTCCTCGAGGACT	0.567000														96			8		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657680	46657680	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:46657680C>T	uc003bhh.3	-	0	1540	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	514	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCATTCCTTCCTGTTACAGTT	0.388000														217			89		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48269424	48269424	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48269424C>T	uc003toq.2	+	6	659	c.635C>T	c.(634-636)tCc>tTc	p.S212F	ABCA13_uc003top.2_3'UTR|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	212					transport	integral to membrane	ATP binding|ATPase activity	p.V211V(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGTTCTAGTTCCTTAATATCC	0.388000														185			76		0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758568	5758568	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5758568G>A	uc001mbt.2	+	0	891	c.822G>A	c.(820-822)gaG>gaA	p.E274E	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		ATCTGACAGAGATGAAGGCTA	0.433000														348			83		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130286970	130286970	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130286970G>A	uc010htl.3	+	4	1954	c.1923G>A	c.(1921-1923)atG>atA	p.M641I		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	641	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCAGCAAAATGAAAACATTTA	0.413000														79			47		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201182696	201182696	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201182696G>A	uc001gwc.3	+	11	8805	c.8675G>A	c.(8674-8676)aGt>aAt	p.S2892N	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						GCTACCCGGAGTTCCACATCC	0.572000														68			22		0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33235498	33235498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:33235498G>A	uc001bvu.1	+	5	762	c.718G>A	c.(718-720)Gag>Aag	p.E240K	KIAA1522_uc010ohm.1_Missense_Mutation_p.E192K|KIAA1522_uc001bvv.2_Missense_Mutation_p.E181K|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	181										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GAATGAGCGTGAGGCACCAGG	0.701000														25			8		0	0	1	0	0
CSTF2T	23283	broad.mit.edu	37	10	53459007	53459007	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:53459007T>A	uc001jjp.3	-	0	349	c.303A>T	c.(301-303)ttA>ttT	p.L101F	PRKG1_uc001jjm.3_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.3_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant (CSTF2T), mRNA.	101					mRNA processing	nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CAAGGCTCTTTAACTCCTCCT	0.552000														143			67		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169586315	169586315	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169586315C>T	uc001ggi.4	-	2	497	c.432G>A	c.(430-432)aaG>aaA	p.K144K	SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Silent_p.K144K	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	144	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CATCATTCCACTTGCCAGGGG	0.453000														145			49		0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48716111	48716111	+	Silent	SNP	G	A	A	rs34283811		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48716111G>A	uc003cun.3	-	11	1945	c.1851C>T	c.(1849-1851)ttC>ttT	p.F617F	NCKIPSD_uc003cum.3_Silent_p.F610F	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	617					NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGTCCTGCAGGAACTTGAGGA	0.572000														93			49		0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157805786	157805787	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157805786_157805787CC>TT	uc001frk.4	-	2	357_358	c.214_215GG>AA	c.(214-216)gga>AAa	p.G72K		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	72	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACTAGGGGTTCCGCTGGCAGCT	0.545000														249			28		0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31878790	31878790	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31878790C>T	uc002wyw.1	+	4	554	c.393C>T	c.(391-393)ttC>ttT	p.F131F	BPIFB1_uc010gej.1_Silent_p.F131F	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	131						extracellular space	lipid binding										TCGTGGAGTTCCACATGACGA	0.647000														33			7		0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68688074	68688074	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:68688074C>T	uc003hdq.3	-	9	1303	c.1238G>A	c.(1237-1239)aGg>aAg	p.R413K	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc003hdp.3_Missense_Mutation_p.R194K|TMPRSS11D_uc011caj.2_Missense_Mutation_p.R296K	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	413	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGTTTGTTGCCTAATCCAGTC	0.463000														214			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049948	9049948	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9049948G>A	uc002mkp.3	-	4	31887	c.31683C>T	c.(31681-31683)ttC>ttT	p.F10561F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10563	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						ATTCTCTATTGAAAACAGATG	0.483000														116			50		0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142435638	142435638	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:142435638C>T	uc011dbj.2	+	15	1454	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	ARHGAP26_uc003lmt.3_Silent_p.F473F|ARHGAP26_uc003lmw.3_Silent_p.F473F	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	473	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGAAGTTTCATCAAAGCAG	0.343000														135			12		0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91657096	91657096	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:91657096G>A	uc004aqf.2	-	9	1512	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	402	CH1.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GATGTCCGAGGACCCTGCAAC	0.547000														114			26		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29416472	29416472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29416472C>T	uc002rmy.3	-	28	5433	c.4481G>A	c.(4480-4482)gGa>gAa	p.G1494E	ALK_uc010ymo.2_Missense_Mutation_p.G426E	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1494					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTTTCTGGATCCGTGGACCTT	0.527000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					129			32		0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104190698	104190698	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:104190698G>A	uc010swe.1	-	5	768	c.727C>T	c.(727-729)Cct>Tct	p.P243S		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	243							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						AGATGCACAGGCTCATAGTCG	0.468000														134			26		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22157999	22157999	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22157999G>A	uc009vqd.3	-	82	11452	c.11412C>T	c.(11410-11412)gaC>gaT	p.D3804D	HSPG2_uc001bfi.3_5'Flank|HSPG2_uc001bfj.3_Silent_p.D3803D	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3803	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGGCACCATAGTCAGGATAGC	0.627000														66			14		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3087637	3087637	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:3087637G>A	uc022aqr.1	-	26	4660	c.4270C>T	c.(4270-4272)Caa>Taa	p.Q1424*	CSMD1_uc011kwj.2_Nonsense_Mutation_p.Q817*|CSMD1_uc003wqe.3_Nonsense_Mutation_p.Q581*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1425	Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTTGTCCTTGGAGCTGATAG	0.502000														31			12		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129279547	129279547	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:129279547C>T	uc003emx.2	-	29	5113	c.5013G>A	c.(5011-5013)gaG>gaA	p.E1671E	PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Silent_p.E339E	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1671					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGAAATACTTCTCTGTGTCCA	0.512000														65			26		0	0	1	0	0
LAX1	54900	broad.mit.edu	37	1	203743176	203743176	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203743176G>A	uc001haa.3	+	4	974	c.564G>A	c.(562-564)gaG>gaA	p.E188E	LAX1_uc010pql.2_Silent_p.E172E|LAX1_uc001hab.3_Silent_p.E112E	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	Homo sapiens lymphocyte transmembrane adaptor 1 (LAX1), transcript variant 1, mRNA.	188					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	SH2 domain binding|protein kinase binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTTCTTCAGAGGATTCGCATG	0.493000														79			36		0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210001478	210001478	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:210001478C>T	uc001hhr.2	+	0	167	c.70C>T	c.(70-72)Ctt>Ttt	p.L24F	DIEXF_uc009xcu.2_5'UTR	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA.	24					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GAAGAAACATCTTCGAGATTT	0.547000											OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			36		0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74104714	74104714	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:74104714G>A	uc003pgw.3	+	0	430	c.86G>A	c.(85-87)aGg>aAg	p.R29K	OOEP_uc003pgv.4_5'UTR|DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	29						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.R29S(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GCGCCAGAGAGGAGGCCGGCG	0.642000														84			13		0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29080233	29080233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29080233G>A	uc011dll.2	+	0	566	c.566G>A	c.(565-567)cGa>cAa	p.R189Q		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L188V(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GCACTTCTGCGATTATCGTGT	0.448000														72			24		0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676172	123676172	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123676172C>T	uc010rzz.2	-	0	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CTCAACACTTCCTGTACCTTC	0.408000														124			38		0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53702957	53702957	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53702957G>A	uc001scr.4	-	8	1082	c.919C>T	c.(919-921)Cct>Tct	p.P307S	AAAS_uc001scs.4_Missense_Mutation_p.P274S	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	307					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						ACAGCTGAAGGAGTGGTAGCC	0.582000														159			76		0	0	1	0	0
RBM14	10432	broad.mit.edu	37	11	66392364	66392364	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66392364C>T	uc001oit.3	+	1	1156	c.1017C>T	c.(1015-1017)gcC>gcT	p.A339A	RBM14_uc009yri.3_Intron|RBM14_uc009yrh.3_Intron|RBM14_uc009yrj.3_Intron|RBM14_uc009yrk.3_Intron|RBM14_uc021qmb.1_Intron|RBM14_uc021qmc.1_Splice_Site	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 14 (RBM14), transcript variant 1, mRNA.	339	Ala-rich.|TRBP-interacting domain.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	RNA binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCTCCCTTGCCTCCTATGGTA	0.612000														90			36		0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24581994	24581994	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:24581994C>T	uc002zzn.1	+	8	1394	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	450	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						CCTCCGCCTTCGGAGACCCAC	0.652000														24			12		0	0	1	0	0
TOB2	10766	broad.mit.edu	37	22	41833288	41833288	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:41833288G>A	uc003azz.1	-	1	769	c.62C>T	c.(61-63)cCc>cTc	p.P21L	TOB2_uc021wqf.1_Missense_Mutation_p.P21L	NM_016272	NP_057356	Q14106	TOB2_HUMAN	Homo sapiens transducer of ERBB2, 2 (TOB2), mRNA.	21					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CCGGCGCCGGGGCAGCTTGTT	0.537000														53			34		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98144361	98144361	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98144361C>T	uc001kml.2	-	15	2418	c.2177G>A	c.(2176-2178)aGg>aAg	p.R726K		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	726	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GAAGTGGGCCCTGAAGCCGCG	0.627000														102			43		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64606904	64606904	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:64606904C>T	uc003dmg.3	-	18	2731	c.2699G>A	c.(2698-2700)cGa>cAa	p.R900Q	ADAMTS9_uc011bfo.2_Missense_Mutation_p.R872Q|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R729Q|ADAMTS9_uc003dmk.1_Missense_Mutation_p.R900Q	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	900	TSP type-1 2.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R900*(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AACAAGTTTTCGTTTCCGTTC	0.423000														26			12		0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21327590	21327590	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21327590C>T	uc001req.4	+	3	410	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	102					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TCGGTTGTTTCATTATGGGAA	0.343000														70			14		0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25769328	25769328	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:25769328C>T	uc003nfe.3	+	2	326	c.207C>T	c.(205-207)gcC>gcT	p.A69A	SLC17A4_uc011djx.2_Silent_p.A69A|SLC17A4_uc003nff.1_Silent_p.A6A|SLC17A4_uc003nfg.3_Silent_p.A6A	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	69					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACAACACAGCCCCACCTAGCC	0.468000														80			27		0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119623257	119623257	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:119623257C>T	uc003pym.1	-	3	1154	c.712G>A	c.(712-714)Gga>Aga	p.G238R	MAN1A1_uc010kei.2_Missense_Mutation_p.G261R	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	238					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ATAGTTGCTCCTTTGATGTTA	0.289000														15			7		0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88723893	88723893	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:88723893G>A	uc002flg.1	-	3	361	c.354C>T	c.(352-354)ttC>ttT	p.F118F	MVD_uc002flf.1_5'Flank	NM_002461	NP_002452	P53602	MVD1_HUMAN	Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA.	118					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|Hsp70 protein binding|diphosphomevalonate decarboxylase activity|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CAGCCGTGGGGAAGTTGTTCA	0.701000														13			6		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924276	70924276	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70924276G>A	uc021rvq.1	+	0	60	c.60G>A	c.(58-60)ggG>ggA	p.G20G	ADAM21_uc001xmd.3_Silent_p.G20G	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	20					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCTGGCTTGGGGTATTTTTGT	0.537000														106			47		0	0	1	0	0
TSPAN32	10077	broad.mit.edu	37	11	2335756	2335756	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:2335756G>A	uc001lvy.1	+	5	635	c.498G>A	c.(496-498)ggG>ggA	p.G166G	TSPAN32_uc001lvx.1_Missense_Mutation_p.E210K|TSPAN32_uc009ydk.1_Silent_p.G176G|TSPAN32_uc010qxk.2_Silent_p.G201G|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Silent_p.G136G|TSPAN32_uc001lwb.1_Silent_p.G136G|TSPAN32_uc001lwc.1_Silent_p.G111G|TSPAN32_uc001lwd.1_5'Flank	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	Homo sapiens tetraspanin 32 (TSPAN32), mRNA.	166					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GCCGTCTGGGGAGCACAGAGG	0.642000														13			9		0	0	1	0	0
GLT25D2	23127	broad.mit.edu	37	1	183913377	183913377	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:183913377C>T	uc001gqr.3	-	9	1722	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	GLT25D2_uc010poj.1_Missense_Mutation_p.M450I|GLT25D2_uc001gqp.3_Missense_Mutation_p.M58I|GLT25D2_uc001gqq.3_Missense_Mutation_p.M187I|GLT25D2_uc001gqs.3_Missense_Mutation_p.M330I	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	450					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						CCATCAGCTTCATCAGCTTCT	0.453000														85			27		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27681043	27681043	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27681043G>A	uc002rku.3	-	26	2976	c.2925C>T	c.(2923-2925)atC>atT	p.I975I		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	975					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GGGCCTGAGTGATGTATAGCA	0.552000														121			11		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344463	56344463	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56344463C>T	uc001niz.1	-	0	735	c.735G>A	c.(733-735)ctG>ctA	p.L245L	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TGACTATTGTCAGGTGGGAAG	0.428000														137			13		0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469290	72469290	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:72469290C>T	uc010izc.3	+	0	268	c.220C>T	c.(220-222)Ctt>Ttt	p.L74F		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	74						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GACCCAGCTCCTTGGGCCCGT	0.512000														105			11		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23203759	23203759	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23203759G>A	uc002dlm.1	+	3	844	c.705G>A	c.(703-705)atG>atA	p.M235I		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	235					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TACACTACATGAACATCATGG	0.488000														91			11		0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102607113	102607113	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:102607113C>T	uc022bky.1	+	6	2238	c.1470C>T	c.(1468-1470)gtC>gtT	p.V490V	NR4A3_uc004baf.1_Silent_p.V479V	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	479	Ligand-binding (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AGCTGTTTGTCCTCAGACTTT	0.393000			T	EWSR1	extraskeletal myxoid chondrosarcoma									36			16		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34014926	34014926	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34014926G>A	uc001zhi.3	+	43	6700	c.6630G>A	c.(6628-6630)gtG>gtA	p.V2210V	RYR3_uc010bar.3_Silent_p.V2210V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2210	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGAGAGTGTGGAAGAAAACG	0.542000														104			40		0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13214675	13214675	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:13214675C>T	uc001ima.3	+	4	633	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	MCM10_uc001imb.3_Nonsense_Mutation_p.Q168*|MCM10_uc001imc.3_Nonsense_Mutation_p.Q168*	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	169					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TCAGAGAATTCAGGAGTCAAC	0.468000														108			8		0	0	1	0	0
CACNG1	786	broad.mit.edu	37	17	65040977	65040977	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:65040977G>A	uc002jfu.3	+	0	326	c.201G>A	c.(199-201)aaG>aaA	p.K67K		NM_000727	NP_000718	Q06432	CCG1_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 1 (CACNG1), mRNA.	67					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	ACGACAGCAAGACCTGCGGGC	0.652000														26			10		0	0	1	0	0
IL1RN	3557	broad.mit.edu	37	2	113890408	113890408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113890408G>A	uc002tjb.3	+	3	558	c.494G>A	c.(493-495)gGc>gAc	p.G165D	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Missense_Mutation_p.G168D|IL1RN_uc002tiy.3_Missense_Mutation_p.G131D|IL1RN_uc002tja.3_Missense_Mutation_p.G147D	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	165					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	CCTGACGAAGGCGTCATGGTC	0.587000									Lichen Sclerosis et Atrophicus, Familial Clustering of					113			24		0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67314090	67314090	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67314090C>T	uc010cef.3	+	1	442	c.143C>T	c.(142-144)cCt>cTt	p.P48L	PLEKHG4_uc002eso.4_Missense_Mutation_p.P48L|PLEKHG4_uc002esp.4_5'UTR|PLEKHG4_uc002esq.4_Missense_Mutation_p.P48L|PLEKHG4_uc002esr.1_Intron|PLEKHG4_uc002ess.4_Missense_Mutation_p.P48L|PLEKHG4_uc010ceg.3_Missense_Mutation_p.P48L	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	48					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GACCCAGGTCCTCCAAGACCA	0.602000														61			8		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124743205	124743205	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124743205G>A	uc001qbc.3	+	10	1706	c.1537_splice	c.e10-1	p.E513_splice		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	513	Ig-like C2-type 5.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTCTCTTCCAGGAGATGGACA	0.552000														10			9		0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35551632	35551633	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35551632_35551633GG>AA	uc002nxq.2	+	9	967_968	c.722_723GG>AA	c.(721-723)ggg>gAA	p.G241E	HPN_uc002nxr.2_Missense_Mutation_p.G241E|HPN_uc010xsh.1_Missense_Mutation_p.G210E|HPN_uc002nxt.1_Missense_Mutation_p.G125E|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	241	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GTCTACCACGGGGGCTATCTTC	0.644000														75			25		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103142759	103142759	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103142759G>A	uc002tbz.4	+	10	2449	c.1992G>A	c.(1990-1992)ggG>ggA	p.G664G		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	664					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.G664W(1)		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						ACCCCTACGGGAATCCTCAGT	0.502000														92			38		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072414	9072414	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9072414G>A	uc002mkp.3	-	2	15236	c.15032C>T	c.(15031-15033)tCa>tTa	p.S5011L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5013	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						ATCCAATTGTGAAAATCCATG	0.483000														71			9		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203691724	203691724	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203691724C>G	uc001gzw.3	+	17	3828	c.2931C>G	c.(2929-2931)aaC>aaG	p.N977K	ATP2B4_uc001gzv.3_Missense_Mutation_p.N977K|ATP2B4_uc009xaq.3_Missense_Mutation_p.N977K|ATP2B4_uc001gzx.3_Missense_Mutation_p.N8K|ATP2B4_uc009xar.3_Missense_Mutation_p.N8K	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	977					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGAAATCAACTCCCGAAAGA	0.463000														90			22		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128477498	128477498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:128477498G>A	uc002tpg.2	-	15	2300	c.2101C>T	c.(2101-2103)Cct>Tct	p.P701S		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	701	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGACCTTGAGGACCAGAACTA	0.642000														81			15		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725888	140725888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140725888C>T	uc003ljm.2	+	0	2288	c.2288C>T	c.(2287-2289)tCg>tTg	p.S763L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.S763L	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	768					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)			ACTGCGGACTCGCGGAAGAGC	0.612000														206			39		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411082	126411082	+	Missense_Mutation	SNP	A	T	T	rs139260545	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126411082A>T	uc003ifj.4	+	16	13105	c.13105A>T	c.(13105-13107)Atg>Ttg	p.M4369L	FAT4_uc011cgp.2_Missense_Mutation_p.M2610L|FAT4_uc003ifi.1_Missense_Mutation_p.M1846L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4369	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATTGCTTCTATGTGGTATGG	0.438000														172			65		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067464	9067464	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9067464C>T	uc002mkp.3	-	2	20186	c.19982G>A	c.(19981-19983)gGa>gAa	p.G6661E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6663	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						GGTGCTGGTTCCCTTCAGCCC	0.512000														63			27		0	0	1	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047502	46047502	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46047502G>A	uc002zfp.4	+	0	463	c.414G>A	c.(412-414)ccG>ccA	p.P138P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	138	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						cctgccagccggcctgctgtg	0.612000														251			35		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124756633	124756633	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124756633C>T	uc001qbg.3	-	15	2661	c.2521G>A	c.(2521-2523)Gac>Aac	p.D841N	ROBO4_uc010sas.2_Missense_Mutation_p.D696N|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.3_Missense_Mutation_p.D399N	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	841					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTGCCCATGTCCGTGAACTCT	0.652000														41			13		0	0	1	0	0
RAB4B	53916	broad.mit.edu	37	19	41292841	41292841	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41292841C>T	uc002opd.2	+	6	772	c.615C>T	c.(613-615)gcC>gcT	p.A205A	RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002ope.2_Non-coding_Transcript|EGLN2_uc010ehd.3_5'UTR|RAB4B_uc002opf.2_Silent_p.A231A	NM_016154	NP_057238	P61018	RAB4B_HUMAN	Homo sapiens RAB4B, member RAS oncogene family (RAB4B), mRNA.	205					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity	p.A240A(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GTGCCCAGGCCGTGGCCCCTC	0.682000														52			5		0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68686806	68686806	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:68686806G>A	uc001jmz.1	+	1	682	c.132G>A	c.(130-132)atG>atA	p.M44I	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Missense_Mutation_p.M44I	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	44	LRRNT.					integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AAGGCAAAATGGTATATTGTG	0.443000														53			24		0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233898898	233898898	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233898898G>A	uc010zmn.2	+	1	274	c.274G>A	c.(274-276)Gac>Aac	p.D92N		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	92							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CCCCTTGTATGACGCGCAGAC	0.617000														95			56		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77662013	77662013	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77662013G>A	uc011cbx.2	+	4	3640	c.2687G>A	c.(2686-2688)aGc>aAc	p.S896N	SHROOM3_uc011cbz.1_Missense_Mutation_p.S720N|SHROOM3_uc003hkf.1_Missense_Mutation_p.S771N|SHROOM3_uc003hkg.3_Missense_Mutation_p.S674N	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	896					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAGCTCTCCAGCGAGCCAGAG	0.711000														19			10		0	0	1	0	0
JDP2	122953	broad.mit.edu	37	14	75928233	75928233	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75928233G>A	uc001xrq.3	+	3	532	c.339_splice	c.e3+1	p.R113_splice	JDP2_uc010asj.3_Splice_Site_p.R102_splice|JDP2_uc010tvb.2_Splice_Site_p.R102_splice|JDP2_uc010tvc.2_Splice_Site_p.R102_splice	NM_001135049	NP_569736	Q8WYK2	JDP2_HUMAN	Homo sapiens Jun dimerization protein 2 (JDP2), transcript variant 4, mRNA.	102	Leucine-zipper.					nucleus	sequence-specific DNA binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)		TTCTGCAGCGGGTGAGCTGAC	0.582000														12			3		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135205499	135205499	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135205499G>A	uc004cbk.3	-	9	1669	c.1486C>T	c.(1486-1488)Cct>Tct	p.P496S	SETX_uc004cbj.3_Missense_Mutation_p.P115S|SETX_uc010mzt.3_Missense_Mutation_p.P115S	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	496					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCAGTGGTAGGAAGCTTGGCA	0.428000														91			19		0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28328886	28328886	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:28328886G>A	uc002dpd.3	+	1	963	c.174G>A	c.(172-174)gaG>gaA	p.E58E		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	58	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						TAGTCCGGGAGCTGGGCAAAG	0.627000											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		55			13		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58711073	58711073	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:58711073G>A	uc001nnh.2	+	1	132	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	GLYATL1_uc001nnf.3_5'UTR|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_5'UTR|GLYATL1_uc001nnj.2_5'UTR	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	0						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	agcgcgaagtgaacacggaag	0.453000														39			9		0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79498730	79498730	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:79498730G>A	uc011ctj.2	-	1	327	c.170C>T	c.(169-171)aCc>aTc	p.T57I	SERINC5_uc003kgj.3_Missense_Mutation_p.T57I|SERINC5_uc003kgm.3_Missense_Mutation_p.T57I|SERINC5_uc003kgk.3_Missense_Mutation_p.T57I|SERINC5_uc003kgl.3_Non-coding_Transcript	NM_001174072	NP_001167543	Q86VE9	SERC5_HUMAN	Homo sapiens serine incorporator 5 (SERINC5), transcript variant 1, mRNA.	57					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane		p.T56T(1)		endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GTGAGCCACGGTTGTTGACAT	0.502000														24			10		0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172634851	172634851	+	Missense_Mutation	SNP	C	T	T	rs80358236		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:172634851C>T	uc001gis.3	+	3	698	c.541C>T	c.(541-543)Ctt>Ttt	p.L181F	FASLG_uc001git.3_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	181					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GAAGGGTGGCCTTGTGATCAA	0.458000														95			14		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130187704	130187704	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130187704C>T	uc010htj.1	+	37	7350	c.6856C>T	c.(6856-6858)Caa>Taa	p.Q2286*	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Nonsense_Mutation_p.Q325*|COL6A5_uc010htk.1_Nonsense_Mutation_p.Q325*	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2286	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGTCTCTCTTCAAGAATATTA	0.363000														23			10		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1023983	1023983	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1023983C>T	uc001lsw.2	-	24	3397	c.3346G>A	c.(3346-3348)Ggt>Agt	p.G1116S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1116					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGCACACACCCTTGTCCAGA	0.682000														27			12		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207640181	207640181	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207640181C>T	uc001hfw.3	+	1	488	c.369C>T	c.(367-369)tcC>tcT	p.S123S	CR2_uc001hfv.3_Silent_p.S123S|CR2_uc009xch.3_Silent_p.S123S	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	123	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CCAACTTCTCCATGAACGGAA	0.458000														77			36		0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41148164	41148164	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:41148164G>A	uc001zna.3	+	8	1444	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	SPINT1_uc001znb.3_Missense_Mutation_p.E398K|SPINT1_uc001znc.3_Missense_Mutation_p.E398K|SPINT1_uc010ucs.2_Missense_Mutation_p.E405K	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	414	BPTI/Kunitz inhibitor 2.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CCCCTTCAGCGAACACTGCGC	0.577000														72			113		0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54159224	54159224	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:54159224G>A	uc004dsz.4	-	8	2046	c.1963C>T	c.(1963-1965)Cgg>Tgg	p.R655W	FAM120C_uc011moh.2_Missense_Mutation_p.R655W	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	655										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						CGAGCTGACCGGAATAAGAGA	0.488000														13			9		0	0	1	0	0
BBS2	583	broad.mit.edu	37	16	56519580	56519580	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:56519580G>A	uc002ejd.2	-	15	2215	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C		NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Homo sapiens Bardet-Biedl syndrome 2 (BBS2), mRNA.	661					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TTGTTACAGCGAATTTTATAT	0.378000									Bardet-Biedl syndrome					209			24		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957659	111957659	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111957659G>A	uc001eba.3	-	10	1520	c.1464C>T	c.(1462-1464)acC>acT	p.T488T	OVGP1_uc001eaz.3_Silent_p.T450T|OVGP1_uc010owb.2_Silent_p.T136T	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	488					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TCTCTCCAGGGGTCATGGACT	0.532000														75			17		0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44569769	44569769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44569769C>T	uc002xqs.3	+	6	910	c.596C>T	c.(595-597)cCc>cTc	p.P199L		NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	Homo sapiens PDX1 C-terminal inhibiting factor 1 (PCIF1), mRNA.	199						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CCCCCGCATCCCGAAGTGGAA	0.622000														45			18		0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96795611	96795611	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:96795611G>A	uc010yui.2	-	7	826	c.826C>T	c.(826-828)Ctc>Ttc	p.L276F		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	276					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TAGAGTTTGAGGACCCGGGTG	0.647000														70			9		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907650	12907650	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12907650C>T	uc010obf.2	-	1	719	c.493G>A	c.(493-495)Gga>Aga	p.G165R	LOC649330_uc009vno.2_Missense_Mutation_p.G165R	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	165							nucleic acid binding|nucleotide binding										CCCCGCTTTCCACTCTTAGAA	0.488000														478			92		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4673781	4673781	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4673781G>A	uc021qcq.1	+	0	25	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	OR51E1_uc001lzi.4_Missense_Mutation_p.E9K	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	8			S -> N (in dbSNP:rs17224476).		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)		CAATGGCAATGAATCCAGTGC	0.488000														116			44		0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65083039	65083039	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:65083039G>A	uc010wqk.2	-	31	5590	c.5403C>T	c.(5401-5403)tcC>tcT	p.S1801S	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Silent_p.S1800S	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGACTCCGGGGATGAAAAGT	0.468000														112			52		0	0	1	0	0
SPOPL	339745	broad.mit.edu	37	2	139326544	139326544	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:139326544C>T	uc002tvh.3	+	10	1473	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	Homo sapiens speckle-type POZ protein-like (SPOPL), mRNA.	358						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GGGTGGAAGTCCATGATTCAG	0.408000														267			102		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317894	31317894	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:31317894G>A	uc003jhe.2	+	10	2105	c.1745G>A	c.(1744-1746)gGg>gAg	p.G582E	CDH6_uc003jhd.2_Missense_Mutation_p.G582E	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	582	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGCAGCACTGGGACAGTGACT	0.542000														49			22		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129198739	129198739	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:129198739C>T	uc003eml.3	+	13	1821	c.1615C>T	c.(1615-1617)Ctc>Ttc	p.L539F	IFT122_uc003emm.3_Missense_Mutation_p.L488F|IFT122_uc003emn.3_Missense_Mutation_p.L429F|IFT122_uc003emo.3_Missense_Mutation_p.L377F|IFT122_uc003emp.3_Missense_Mutation_p.L338F|IFT122_uc010htc.3_Missense_Mutation_p.L480F|IFT122_uc011bky.2_Missense_Mutation_p.L279F|IFT122_uc011bla.2_Missense_Mutation_p.L279F|IFT122_uc003emr.3_Missense_Mutation_p.L279F|IFT122_uc011bkx.1_Missense_Mutation_p.L328F|IFT122_uc011bkz.1_Non-coding_Transcript|IFT122_uc010htd.1_5'Flank	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	488					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						AAGAGAAGGCCTCTTAGTGGG	0.562000														60			27		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28909943	28909943	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28909943C>T	uc002kwp.3	+	4	673	c.461C>T	c.(460-462)cCt>cTt	p.P154L		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	154	Cadherin 1.				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)			AATGACAACCCTCCAGTGTTT	0.433000														98			23		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31590856	31590856	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:31590856C>T	uc002rnv.1	-	19	2247	c.2168G>A	c.(2167-2169)gGg>gAg	p.G723E		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	723					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTCGGAAAACCCCTTCTTTAG	0.448000														159			48		0	0	1	0	0
CALML6	163688	broad.mit.edu	37	1	1848629	1848629	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1848629G>A	uc001aih.1	+	5	997	c.543G>A	c.(541-543)caG>caA	p.Q181Q		NM_138705	NP_619650	Q8TD86	CALL6_HUMAN	Homo sapiens calmodulin-like 6 (CALML6), mRNA.	181						cytoplasm|nucleus	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		AGCTGATCCAGTAGGTGCAGC	0.667000														8			3		0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15234791	15234791	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:15234791G>A	uc002gon.3	-	2	299	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.	38					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TTGGAGTGGGGAAAGCGGTCC	0.537000														33			18		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102477166	102477166	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:102477166C>T	uc001yks.2	+	31	6659	c.6495C>T	c.(6493-6495)ttC>ttT	p.F2165F		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2165					G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGGACGTGTTCCCTGGAGTCC	0.532000														107			25		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466660	10466660	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10466660C>T	uc003wtc.3	-	3	5177	c.4948G>A	c.(4948-4950)Gag>Aag	p.E1650K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1650					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)		CCCTCCGCCTCCTCGCCCAGC	0.677000														49			15		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67132350	67132350	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:67132350C>T	uc002jhw.1	-	3	518	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	ABCA6_uc002jhy.3_Missense_Mutation_p.E113K	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	115					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGAAGTATTTCGTCCATGTGT	0.323000														11			4		0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31473487	31473487	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31473487C>T	uc003ntn.4	+	1	280	c.164C>T	c.(163-165)cCc>cTc	p.P55L	MICB_uc011dnm.2_Missense_Mutation_p.P23L|MICB_uc021yuq.1_Missense_Mutation_p.P23L|MICB_uc003nto.4_Missense_Mutation_p.P55L	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	55					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	MHC class I protein complex|integral to plasma membrane	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GATGGTCAGCCCTTCCTGCGC	0.582000														69			30		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23809268	23809268	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:23809268C>T	uc003sws.4	+	12	1673	c.1606C>T	c.(1606-1608)Cta>Tta	p.L536L	STK31_uc003swt.4_Silent_p.L513L|STK31_uc011jze.2_Silent_p.L536L|STK31_uc010kuq.3_Silent_p.L513L	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	536							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGTTTTTGACCTATCTGTGGA	0.363000														184			10		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6203924	6203924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6203924C>T	uc001amb.2	-	12	2113	c.2002G>A	c.(2002-2004)Gac>Aac	p.D668N	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	668					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.R667G(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCTTGTCGTCCCTCAGCTTC	0.642000														82			37		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10077009	10077009	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10077009G>A	uc002mmq.1	-	63	4849	c.4763C>T	c.(4762-4764)cCc>cTc	p.P1588L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1588	Fibrillar collagen NC1.				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)			CTTCTTGTCGGGATAGAGGCA	0.592000														43			20		0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17415876	17415876	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:17415876C>T	uc011kye.2	+	7	1436	c.1388C>T	c.(1387-1389)tCt>tTt	p.S463F	SLC7A2_uc011kyc.2_Missense_Mutation_p.S423F|SLC7A2_uc011kyd.2_Missense_Mutation_p.S462F	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	423					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATGGCCTACTCTCTGGTGGCA	0.532000														69			6		0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26537451	26537451	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:26537451C>T	uc002rhe.4	-	6	963	c.963G>A	c.(961-963)tgG>tgA	p.W321*	GPR113_uc010yky.1_Nonsense_Mutation_p.W252*|GPR113_uc002rhb.1_Intron|GPR113_uc010eyk.1_Nonsense_Mutation_p.W122*|GPR113_uc002rhc.1_Intron|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	321					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATACAGGTTCCACTTGAAGC	0.602000														38			14		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284211	159284211	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159284211G>A	uc010piu.2	-	0	239	c.239C>T	c.(238-240)cCc>cTc	p.P80L		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P80P(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAGCATATGGGGAATGATGGC	0.493000														79			34		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58084602	58084602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58084602C>T	uc003djj.2	+	7	1477	c.1312C>T	c.(1312-1314)Cct>Tct	p.P438S	FLNB_uc010hne.2_Missense_Mutation_p.P438S|FLNB_uc003djk.2_Missense_Mutation_p.P438S|FLNB_uc010hnf.2_Missense_Mutation_p.P438S|FLNB_uc003djl.2_Missense_Mutation_p.P269S|FLNB_uc003djm.2_Missense_Mutation_p.P269S	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	438					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGACACTATTCCTAAGAGTCC	0.552000														94			25		0	0	1	0	0
R3HDML	140902	broad.mit.edu	37	20	42969866	42969866	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42969866G>A	uc002xls.1	+	1	464	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	Homo sapiens R3H domain containing-like (R3HDML), mRNA.	98						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CAGGGCTGCCGAAGCCTGGGC	0.587000														49			21		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75993946	75993946	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:75993946G>A	uc003kek.3	+	32	4563	c.4341G>A	c.(4339-4341)aaG>aaA	p.K1447K	IQGAP2_uc011csv.2_Silent_p.K943K|IQGAP2_uc003kel.3_Silent_p.K943K|IQGAP2_uc010izw.1_Silent_p.K148K	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1447					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CCTACATAAAGACTTGTTTAG	0.328000														37			15		0	0	1	0	0
LRRC19	64922	broad.mit.edu	37	9	26999654	26999654	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:26999654G>A	uc003zqh.3	-	1	150	c.39C>T	c.(37-39)ctC>ctT	p.L13L	IFT74_uc010mja.3_Intron|IFT74_uc010mjb.3_Intron|IFT74_uc003zqf.4_Intron|IFT74_uc003zqg.4_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	Homo sapiens leucine rich repeat containing 19 (LRRC19), mRNA.	13						integral to membrane		p.P12L(1)		breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		ATATCATGGAGAGGGGCCAAA	0.303000														27			20		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78340139	78340139	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:78340139C>T	uc003kfs.3	-	5	988	c.982G>A	c.(982-984)Gga>Aga	p.G328R	DMGDH_uc011cte.1_Missense_Mutation_p.G178R|DMGDH_uc011ctf.1_Missense_Mutation_p.G127R|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	328					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GGAGGAACTCCATTGGTGACC	0.458000														89			41		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12341345	12341345	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:12341345C>T	uc001mkg.1	+	3	1820	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	510					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CCCCAGCTTTCCTTGCAGTTA	0.517000														98			42		0	0	1	0	0
ACTA1	58	broad.mit.edu	37	1	229568553	229568554	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:229568553_229568554GG>AA	uc001htm.3	-	2	308_309	c.203_204CC>TT	c.(202-204)acc>aTT	p.T68I		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	68			T -> I (in NEM3).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GGTACTTCAGGGTCAGGATACC	0.584000														82			31		0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4554475	4554475	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4554475G>A	uc010dud.2	-	8	958	c.696C>T	c.(694-696)gtC>gtT	p.V232V	SEMA6B_uc010xih.1_Silent_p.V232V	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	232	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCGCATGGACAAAGTAAG	0.547000														30			11		0	0	1	0	0
CDA	978	broad.mit.edu	37	1	20915772	20915772	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:20915772C>T	uc001bdk.3	+	0	329	c.150C>T	c.(148-150)ttC>ttT	p.F50F	CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	NM_001785	NP_001776	P32320	CDD_HUMAN	Homo sapiens cytidine deaminase (CDA), mRNA.	50					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GGAGAATCTTCAAAGGTAAAG	0.622000														36			12		0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10261701	10261701	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:10261701C>T	uc003jeq.3	+	7	1194	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	CCT5_uc011cmq.2_Silent_p.I188I|CCT5_uc011cmr.2_Silent_p.I286I|CCT5_uc011cms.2_Silent_p.I303I|CCT5_uc011cmt.2_Silent_p.I248I	NM_012073	NP_036205	P48643	TCPE_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.	341					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GAGGGCGGATCGTCCCCAGGT	0.502000														296			95		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160141071	160141071	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160141071C>T	uc001fve.4	+	10	2001	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Nonsense_Mutation_p.Q11*	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	508					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.S507F(1)|p.S507S(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGACAGCTCCCAGACCCACGT	0.517000														117			42		0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178942511	178942511	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:178942511C>T	uc003fjk.3	+	15	2475	c.2318C>T	c.(2317-2319)tCc>tTc	p.S773F		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	773					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CGAATTATGTCCTCTGCAAAA	0.328000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				95			31		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68707096	68707096	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:68707096C>T	uc001ook.1	+	14	2981	c.2879C>T	c.(2878-2880)tCc>tTc	p.S960F	IGHMBP2_uc001ool.1_Missense_Mutation_p.S584F	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	960					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding	p.S960F(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAGAACGGATCCCTGGACCCA	0.657000														30			5		0	0	1	0	0
PTTG1	9232	broad.mit.edu	37	5	159851296	159851296	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:159851296C>T	uc003lyk.3	+	2	434	c.329C>T	c.(328-330)gCc>gTc	p.A110V	PTTG1_uc003lyj.3_Missense_Mutation_p.A110V	NM_004219	NP_004210	O95997	PTTG1_HUMAN	Homo sapiens pituitary tumor-transforming 1 (PTTG1), mRNA.	110					DNA repair|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	SH3 domain binding|cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		TCAGATGATGCCTATCCAGAA	0.378000														139			9		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91347850	91347850	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:91347850C>T	uc001tbj.3	-	0	1104	c.670G>A	c.(670-672)Gag>Aag	p.E224K		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	224										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						GGGGAGGCCTCGCCGCTCACC	0.622000														170			47		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11199665	11199665	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11199665G>A	uc001asd.3	-	34	5044	c.4923C>T	c.(4921-4923)tcC>tcT	p.S1641S		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1641	FAT.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TGACCACAAGGGACCGCACCA	0.502000														154			60		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113169985	113169985	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113169985C>T	uc010mtz.3	-	37	8232	c.7895G>A	c.(7894-7896)gGa>gAa	p.G2632E	SVEP1_uc010mty.3_Missense_Mutation_p.G558E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2632					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTCAAAATATCCCTGGTCATC	0.438000														213			53		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058960	152058960	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152058960G>A	uc001ezo.1	-	2	1263	c.1198C>T	c.(1198-1200)Cat>Tat	p.H400Y		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	400							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)			GCTGTTCCATGGGCCTCAGGA	0.473000														160			68		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678098	25678098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:25678098G>A	uc003grr.3	+	12	1881	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	SLC34A2_uc003grs.3_Silent_p.L599L|SLC34A2_uc010iev.3_Silent_p.L599L	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	600					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGCGCTCGCTGAAGCCCTGGG	0.642000			T	ROS1	NSCLC									95			30		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29040886	29040886	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29040886G>A	uc002kws.3	+	6	884	c.775G>A	c.(775-777)Gat>Aat	p.D259N		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	259	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAAAGTGAAAGATGTCAACGA	0.353000														40			20		0	0	1	0	0
GP9	2815	broad.mit.edu	37	3	128780787	128780787	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:128780787G>A	uc003elm.2	+	2	392	c.205G>A	c.(205-207)Gga>Aga	p.G69R	GP9_uc021xdn.1_Missense_Mutation_p.G69R	NM_000174	NP_000165	P14770	GPIX_HUMAN	Homo sapiens glycoprotein IX (platelet) (GP9), mRNA.	69					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CGTGCCCCCGGGAGCCTTTGA	0.682000														40			16		0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178358763	178358763	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178358763G>A	uc003mjn.1	+	4	958	c.449G>A	c.(448-450)aGa>aAa	p.R150K	ZFP2_uc010jky.2_Missense_Mutation_p.R150K|ZFP2_uc010jkx.1_Missense_Mutation_p.R150K|ZFP2_uc021yjb.1_Missense_Mutation_p.R150K	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Homo sapiens zinc finger protein 2 homolog (mouse) (ZFP2), mRNA.	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R150I(4)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTACATCAAAGAATTCATACT	0.413000														57			26		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12576177	12576177	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12576177C>T	uc002mtv.4	-	3	720	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	ZNF709_uc002mtw.4_Missense_Mutation_p.E155K|ZNF709_uc002mtx.4_Missense_Mutation_p.E187K	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TGAGTTCTTTCATGTATTTGA	0.403000														98			36		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47379846	47379846	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:47379846T>A	uc002leb.2	-	30	4482	c.4194A>T	c.(4192-4194)gaA>gaT	p.E1398D	MYO5B_uc002lea.2_Missense_Mutation_p.E513D	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1398					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCCGGGATATTTCCTGCTGAA	0.567000														67			20		0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46914895	46914895	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46914895C>T	uc002pep.3	-	0	2025	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	391						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CCTCCGCCCTCTGATTATCTG	0.587000														190			39		0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70778438	70778438	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:70778438G>A	uc002ezm.3	-	12	1674	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S	VAC14_uc010cfw.3_Silent_p.S238S|VAC14_uc002ezn.3_Silent_p.S37S|VAC14_uc010cfx.1_5'UTR	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	472					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GGCCTGCGGGGGAGGAAGCGA	0.672000														54			10		0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35108046	35108046	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35108046G>A	uc003zwl.3	-	2	551	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S	FAM214B_uc003zwm.3_Missense_Mutation_p.P76S|FAM214B_uc003zwn.3_Intron|FAM214B_uc003zwo.3_Missense_Mutation_p.P76S|FAM214B_uc003zwp.1_Missense_Mutation_p.P76S|FAM214B_uc010mkk.1_Intron|FAM214B_uc022bgj.1_Missense_Mutation_p.P76S	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA.	76						nucleus											AGCTCCCGGGGACCCTCAGTG	0.637000														32			11		0	0	1	0	0
PGAP3	93210	broad.mit.edu	37	17	37844115	37844115	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:37844115G>A	uc002hsj.3	-	0	196	c.153C>T	c.(151-153)tcC>tcT	p.S51S	ERBB2_uc010cwa.3_5'Flank|ERBB2_uc002hsm.3_5'Flank|PGAP3_uc010wej.2_Silent_p.S51S|PGAP3_uc002hsk.3_Silent_p.S51S|PGAP3_uc010cvz.3_Silent_p.S51S|ERBB2_uc002hsl.3_5'Flank	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA.	51					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						TTGGCTGGCGGGAGCGGAAGT	0.652000														6			4		0	0	1	0	0
RMI1	80010	broad.mit.edu	37	9	86617114	86617114	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:86617114C>T	uc022bjb.1	+	0	1213	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y	RMI1_uc004anq.4_Missense_Mutation_p.H405Y|RMI1_uc004anr.4_Missense_Mutation_p.H405Y|RMI1_uc004anp.4_Missense_Mutation_p.H405Y|RMI1_uc004ans.4_Missense_Mutation_p.H405Y	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN	Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) (RMI1), mRNA.	405					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TTTTTCAGTTCATTGTAATGT	0.313000														67			45		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72509681	72509681	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72509681G>A	uc001jrg.3	+	15	2376	c.2376G>A	c.(2374-2376)gtG>gtA	p.V792V	ADAMTS14_uc001jrh.3_Silent_p.V789V	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	789	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGGATGCGGTGGAGGATGCCA	0.642000														57			12		0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446685	10446685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:10446685G>A	uc003gmn.3	-	2	1755	c.1268C>T	c.(1267-1269)cCt>cTt	p.P423L	ZNF518B_uc021xme.1_Missense_Mutation_p.P423L	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTGAACTGAAGGTTGAAAACT	0.343000														129			57		0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103339570	103339570	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:103339570G>A	uc001ktg.1	-	7	2134	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_Silent_p.F129F|POLL_uc001kte.1_Silent_p.F148F|POLL_uc001kth.1_Silent_p.F181F|POLL_uc001ktj.2_Silent_p.F456F|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Silent_p.F364F|POLL_uc001kti.2_Silent_p.F456F|POLL_uc001ktl.3_Silent_p.F368F|POLL_uc001ktm.3_Silent_p.F456F|POLL_uc010qqc.2_Silent_p.F148F|POLL_uc010qqa.2_Silent_p.F195F	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	456					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CATCTGTGAGGAACCCTGGCC	0.652000								DNA polymerases (catalytic subunits)						42			7		0	0	1	0	0
EPSTI1	94240	broad.mit.edu	37	13	43463358	43463358	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:43463358C>T	uc001uyw.1	-	11	1045	c.969G>A	c.(967-969)tcG>tcA	p.S323S	EPSTI1_uc001uyx.1_Intron	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 1, mRNA.	0								p.S323L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TTAGGTGCCTCGAAAAAACTA	0.294000														42			21		0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156289882	156289882	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:156289882C>T	uc003ios.3	-	4	828	c.564G>A	c.(562-564)atG>atA	p.M188I	MAP9_uc011cin.2_Missense_Mutation_p.M187I|MAP9_uc010iqa.1_Non-coding_Transcript|MAP9_uc003iot.1_Missense_Mutation_p.M187I|MAP9_uc010iqb.2_Missense_Mutation_p.M115I	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	188					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CCTTCTCCTCCATGTGACTTT	0.413000														101			12		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108070663	108070663	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108070663G>A	uc003dwz.3	+	2	417	c.3G>A	c.(1-3)atG>atA	p.M1I	HHLA2_uc011bhl.2_Missense_Mutation_p.E25K|HHLA2_uc010hpu.3_Missense_Mutation_p.M1I|HHLA2_uc003dwy.4_Missense_Mutation_p.M1I	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	1						integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CACAAGACATGAAGGCACAGA	0.358000														23			17		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57115230	57115230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:57115230C>T	uc002lib.3	-	6	830	c.760G>A	c.(760-762)Ggc>Agc	p.G254S	CCBE1_uc010dpq.3_Silent_p.G29G|CCBE1_uc002lia.3_Missense_Mutation_p.G107S	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	254	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GGGCCCTGGCCCCCAGGCAGG	0.582000														90			39		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15582830	15582830	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15582830C>T	uc002nbg.3	-	2	1347	c.1214G>A	c.(1213-1215)gGa>gAa	p.G405E	PGLYRP2_uc002nbf.4_Missense_Mutation_p.G405E	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	405					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GTACAAGAATCCCAGCGGCAG	0.672000														38			13		0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57869041	57869041	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57869041C>T	uc010etw.3	+	3	2333	c.1945C>T	c.(1945-1947)Ctc>Ttc	p.L649F	ZNF304_uc010ygw.2_Missense_Mutation_p.L602F|ZNF304_uc010etx.3_Missense_Mutation_p.L560F	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CAACTCTGGCCTCATTCTGCA	0.478000														68			32		0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358893	72358893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72358893C>T	uc009xqg.3	-	2	745	c.584G>A	c.(583-585)aGg>aAg	p.R195K	PRF1_uc001jrf.4_Missense_Mutation_p.R195K	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	195	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCCGAGGGCCCTCTTGAAGTC	0.612000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					41			7		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043735	20043735	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20043735G>A	uc002dgu.1	-	1	546	c.384C>T	c.(382-384)atC>atT	p.I128I	GPR139_uc010vaw.1_Silent_p.I35I	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	128						integral to membrane|plasma membrane		p.I128N(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGCAGACAGCGATATACCTGT	0.507000														72			23		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039405	248039405	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248039405G>A	uc001ido.3	+	5	1123	c.1075G>A	c.(1075-1077)Ggt>Agt	p.G359S	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	359	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGCAGAGTGGGGTTTAGGGGT	0.562000														66			30		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2979523	2979523	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:2979523C>T	uc003smv.3	-	5	1058	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	242					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	p.Q242P(3)		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)		AGCTTACATTCCTCCTCCATC	0.478000			Mis		DLBCL									124			32		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94884139	94884139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:94884139G>A	uc002btj.3	+	5	1020	c.955G>A	c.(955-957)Gat>Aat	p.D319N	MCTP2_uc010urg.1_Missense_Mutation_p.D319N|MCTP2_uc002bti.2_Missense_Mutation_p.D319N|MCTP2_uc010boj.3_Missense_Mutation_p.D48N|MCTP2_uc010bok.3_Missense_Mutation_p.D319N|MCTP2_uc002btg.4_Missense_Mutation_p.D319N|MCTP2_uc002bth.4_Missense_Mutation_p.D319N	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	319					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAAACAGGGTGATTTCAAGAG	0.373000														67			14		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54420801	54420801	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:54420801G>A	uc003dhf.3	+	4	429	c.381_splice	c.e4+1	p.Q127_splice	CACNA2D3_uc011beu.1_Splice_Site|CACNA2D3_uc003dhg.1_Splice_Site_p.Q33_splice|CACNA2D3_uc003dhh.1_Splice_Site|CACNA2D3_uc010hmv.1_Splice_Site	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	127						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CAGACTTACAGGTAACTGATT	0.383000														15			5		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6511995	6511995	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6511995C>T	uc001amy.3	+	9	2332	c.2164C>T	c.(2164-2166)Ccc>Tcc	p.P722S	ESPN_uc001amz.3_Missense_Mutation_p.P156S	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	722	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding	p.P722S(2)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		AAGCTTGGTTCCCGTGCCGCC	0.672000														15			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594659	179594659	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179594659G>A	uc021vsy.1	-	59	14814	c.14589C>T	c.(14587-14589)ttC>ttT	p.F4863F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F1524F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5790	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G4862R(1)		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)			GCTTCTTAATGAATTGAGGAG	0.428000														25			10		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57815731	57815731	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:57815731G>A	uc010bfw.3	+	11	2953	c.2760G>A	c.(2758-2760)gaG>gaA	p.E920E	CGNL1_uc002aeg.3_Silent_p.E920E	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	920						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGTTGTCTGAGAAGCTCAAAG	0.512000														29			15		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004825	74004825	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74004825C>T	uc010wss.1	-	21	4755	c.4527G>A	c.(4525-4527)caG>caA	p.Q1509Q	EVPL_uc002jqi.2_Silent_p.Q1487Q|EVPL_uc010wst.1_Silent_p.Q957Q	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1487	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGTCTTCTCCTGGTCCAGGT	0.572000														120			62		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23391470	23391470	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23391470G>A	uc002dln.3	+	11	1698	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	508					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TCGCACCATTGAAGAATCAGC	0.542000														81			19		0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44639787	44639787	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44639787C>T	uc002xqz.3	+	4	674	c.655C>T	c.(655-657)Cca>Tca	p.P219S		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	219					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TGCAGTGGTTCCAACTCGGTT	0.632000														281			115		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32014099	32014099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32014099C>T	uc003nzl.2	-	30	10655	c.10453G>A	c.(10453-10455)Gac>Aac	p.D3485N	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3532					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCTGCCCGTCCGTGTCCCTG	0.632000														35			10		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60348221	60348221	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:60348221C>T	uc002ybn.2	+	3	647	c.559C>T	c.(559-561)Ccg>Tcg	p.P187S	CDH4_uc002ybr.2_Missense_Mutation_p.P150S|CDH4_uc002ybp.2_Missense_Mutation_p.P113S	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	187	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding	p.P187L(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGGGCCCTTCCCGCAGCAGCT	0.701000														4			5		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30963129	30963129	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:30963129C>T	uc003tbv.2	+	3	805	c.695C>T	c.(694-696)gCc>gTc	p.A232V	FAM188B_uc011kac.1_Missense_Mutation_p.A292V|FAM188B_uc010kwf.1_Missense_Mutation_p.A149V|FAM188B_uc010kwh.1_Missense_Mutation_p.A181V|FAM188B_uc022abh.1_Missense_Mutation_p.A117V	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCATCCTGGCCCCACGCAGC	0.597000														28			19		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555795	125555795	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:125555795G>A	uc010flu.3	+	18	3479	c.3115G>A	c.(3115-3117)Gaa>Aaa	p.E1039K	CNTNAP5_uc002tno.3_Missense_Mutation_p.E1038K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1038	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCCATCCAAGGAAAACATTGC	0.438000														35			20		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13922221	13922221	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13922221C>T	uc003jfd.2	-	4	697	c.655G>A	c.(655-657)Gag>Aag	p.E219K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	219	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)					CTCACCTTCTCCTTCAGACTC	0.488000									Kartagener syndrome					25			11		0	0	1	0	0
PMVK	10654	broad.mit.edu	37	1	154897656	154897656	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154897656G>A	uc001ffq.3	-	4	851	c.528C>T	c.(526-528)cgC>cgT	p.R176R		NM_006556	NP_006547	Q15126	PMVK_HUMAN	Homo sapiens phosphomevalonate kinase (PMVK), mRNA.	176					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTCCTCCAGGCGCTGTTCAA	0.547000														236			54		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389662	20389662	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20389662G>A	uc010tkw.2	+	0	897	c.897G>A	c.(895-897)agG>agA	p.R299R		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCCGTAAGGAAAATTGTGA	0.383000														111			46		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136562429	136562429	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136562429G>A	uc002tuu.1	-	9	4383	c.4372C>T	c.(4372-4374)Cct>Tct	p.P1458S		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1458	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTTCCATCAGGGAGGATGCGA	0.562000														37			20		0	0	1	0	0
FAM50B	26240	broad.mit.edu	37	6	3850651	3850651	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:3850651G>A	uc003mvu.3	+	1	718	c.606G>A	c.(604-606)cgG>cgA	p.R202R	FAM50B_uc021ykt.1_Silent_p.R202R	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.	202						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GCACGGTGCGGGTGCGCAAGG	0.672000														54			36		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14583423	14583423	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:14583423C>T	uc021wtn.1	-	0	166	c.166G>A	c.(166-168)Gag>Aag	p.E56K	GRIP2_uc003byv.1_5'Flank	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	0	PDZ 1.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGGAGAGGCTCGCCATGAAGA	0.557000														12			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585896	179585896	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179585896G>A	uc021vsy.1	-	75	19343	c.19118C>T	c.(19117-19119)tCa>tTa	p.S6373L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3034L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7300	Ig-like 45.						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)			TGCAACTTTTGAAGCTTCTAA	0.348000														35			15		0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38230404	38230404	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:38230404C>T	uc001zjw.3	+	4	463	c.361C>T	c.(361-363)Cca>Tca	p.P121S	TMCO5A_uc001zjv.1_Missense_Mutation_p.P121S|TMCO5A_uc010bbc.1_Missense_Mutation_p.P121S	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	121						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						ACAAAGCAGTCCAGATGGAGC	0.333000														9			6		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101715887	101715887	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:101715887G>A	uc001kqj.2	-	3	1436	c.1344C>T	c.(1342-1344)ccC>ccT	p.P448P	DNMBP-AS1_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	448					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)		TTGCTTCTAGGGGAAGAAGGT	0.502000														146			38		0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670166	95670166	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:95670166G>A	uc001yef.2	-	8	1636	c.1520C>T	c.(1519-1521)tCc>tTc	p.S507F		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	507						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		ACCATTACAGGAAGAAGACTG	0.468000														44			15		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52944946	52944946	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:52944946C>T	uc003gzl.3	+	7	1344	c.1066C>T	c.(1066-1068)Cat>Tat	p.H356Y	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.H324Y|SPATA18_uc003gzk.1_Missense_Mutation_p.H356Y	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	356					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.I355T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CTTCAAGATCCATGTGAGAAA	0.383000														120			27		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952828	119952828	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:119952828G>A	uc010inb.3	+	3	3094	c.2898G>A	c.(2896-2898)aaG>aaA	p.K966K	SYNPO2_uc010ina.3_Silent_p.K966K|SYNPO2_uc003icm.4_Silent_p.K966K|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Silent_p.K894K|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	966						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATGTCATGAAGCACCAACCGT	0.498000														58			19		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751918	140751918	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140751918C>T	uc003ljw.2	+	0	1957	c.1957C>T	c.(1957-1959)Cct>Tct	p.P653S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.P653S|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	655	Cadherin 6.				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)			AGGACAGCAGCCTCTTTCAGC	0.647000														64			25		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3351177	3351177	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:3351177C>T	uc022aqr.1	-	10	1806	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	473	CUB 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCCCACCTTCCCAGCATCAC	0.507000														8			12		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45281205	45281206	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45281205_45281206CC>TT	uc002ozs.3	+	0	80_81	c.17_18CC>TT	c.(16-18)gcc>gTT	p.A6V	CBLC_uc010ejt.3_Missense_Mutation_p.A6V	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	6					cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CTGGCGGTGGCCCCGTGGGGGC	0.713000			M		AML									15			9		0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96971644	96971644	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96971644G>A	uc001kke.3	+	5	890	c.765G>A	c.(763-765)atG>atA	p.M255I	C10orf129_uc009xuu.1_Missense_Mutation_p.M165I	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	255					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GACGGTGGATGGATCTCCAGC	0.483000														42			12		0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25627729	25627729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25627729C>T	uc003abp.1	+	5	656	c.608C>T	c.(607-609)cCc>cTc	p.P203L		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	203	C-terminal arm.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GCCTTCCACCCCTCCAACTAG	0.622000														66			24		0	0	1	0	0
DHRS13	147015	broad.mit.edu	37	17	27225649	27225649	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:27225649G>A	uc002hde.4	-	4	1071	c.944C>T	c.(943-945)cCt>cTt	p.P315L	FLOT2_uc002hdc.3_5'Flank|DHRS13_uc002hdd.4_Missense_Mutation_p.P265L|DHRS13_uc010wba.2_Missense_Mutation_p.P234L|AX795351_uc002hdf.3_Non-coding_Transcript	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 13 (DHRS13), mRNA.	315						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			ATCCTCCCCAGGCCCAAGCCC	0.627000														9			8		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36259149	36259149	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:36259149C>T	uc010jwf.2	+	1	258	c.258C>T	c.(256-258)ttC>ttT	p.F86F	PNPLA1_uc010jwe.1_5'UTR|PNPLA1_uc003olw.1_5'UTR	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	86	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AGAAATCCTTCCTGGGGCCCT	0.592000														51			19		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29608128	29608128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29608128G>A	uc001usl.4	+	1	2400	c.2342G>A	c.(2341-2343)gGa>gAa	p.G781E		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	771	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCCCAGCTAGGATTGGGTGCA	0.507000														50			18		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175105061	175105061	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175105061G>A	uc001gkl.1	+	15	3524	c.3411G>A	c.(3409-3411)atG>atA	p.M1137I		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1137	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGGACCCCATGAAGGAGTTCT	0.542000														73			32		0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60230367	60230367	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:60230367C>T	uc002lip.4	+	8	1676	c.1676C>T	c.(1675-1677)tCg>tTg	p.S559L	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Missense_Mutation_p.S29L	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	559					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TGTGTGACCTCGGCTGACCAG	0.428000														76			23		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123515039	123515039	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:123515039C>T	uc010nqy.3	-	31	7610	c.7546G>A	c.(7546-7548)Gga>Aga	p.G2516R	ODZ1_uc011muj.2_Missense_Mutation_p.G2515R|ODZ1_uc004euj.3_Missense_Mutation_p.G2509R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2509					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TGCTTCCCTCCTTCAAGGCAC	0.453000														50			74		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109779736	109779736	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:109779736C>T	uc010agk.2	+	30	4511	c.3889C>T	c.(3889-3891)Cct>Tct	p.P1297S	MYO16_uc001vqt.1_Missense_Mutation_p.P1275S|MYO16_uc010tjh.1_Missense_Mutation_p.P787S	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1275					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity	p.P1297P(2)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CATCTGGTCTCCTTCGCTGCA	0.642000														18			9		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40037088	40037088	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:40037088G>A	uc003ayc.3	+	5	957	c.957G>A	c.(955-957)tgG>tgA	p.W319*	CACNA1I_uc003ayd.3_Nonsense_Mutation_p.W319*|CACNA1I_uc003aye.3_Nonsense_Mutation_p.W234*|CACNA1I_uc003ayf.3_Nonsense_Mutation_p.W234*	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	319					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GTGTCAACTGGAACCGTTACT	0.587000														64			21		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43757787	43757787	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43757787C>T	uc002owd.4	-	5	1354	c.1255G>A	c.(1255-1257)Gga>Aga	p.G419R	PSG9_uc002owe.4_Missense_Mutation_p.G326R|PSG9_uc010xwm.2_Missense_Mutation_p.G326R|PSG9_uc002owf.4_Missense_Mutation_p.G233R	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	419					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				gtcaggtctccatggcaggga	0.453000														105			7		0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17895037	17895037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17895037G>A	uc002nhg.3	+	24	2498	c.2219G>A	c.(2218-2220)cGa>cAa	p.R740Q	FCHO1_uc010ebb.2_Missense_Mutation_p.R740Q|FCHO1_uc002nhh.2_Missense_Mutation_p.R740Q|FCHO1_uc010xpw.1_Missense_Mutation_p.R690Q	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	740										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GTGCTGCTGCGATACCAGGTG	0.657000											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		8			3		0	0	1	0	0
NR2C1	7181	broad.mit.edu	37	12	95419008	95419008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:95419008C>T	uc001tdm.4	-	12	1811	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K		NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	519					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TCTATCTGTTCCATGTTTTCT	0.343000														32			10		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95069791	95069791	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95069791G>A	uc001kin.3	-	52	6256	c.6133C>T	c.(6133-6135)Ctc>Ttc	p.L2045F	MYOF_uc001kio.3_Missense_Mutation_p.L2032F|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	2045					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAAGAGTAGAGGAGCACGGCC	0.562000														33			19		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234113017	234113017	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234113017C>T	uc010zmo.2	+	24	3287	c.3134C>T	c.(3133-3135)cCc>cTc	p.P1045L	INPP5D_uc010zmp.2_Missense_Mutation_p.P1044L	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1074	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)		GGCGAGGGGCCCGGCAAGCAG	0.706000														37			10		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816422	156816422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156816422G>A	uc021ygm.1	+	28	3568	c.3430G>A	c.(3430-3432)Gag>Aag	p.E1144K	CYFIP2_uc011ddn.2_Missense_Mutation_p.E1119K|CYFIP2_uc011ddo.2_Missense_Mutation_p.E949K|CYFIP2_uc021ygn.1_Missense_Mutation_p.E1144K|CYFIP2_uc021ygo.1_Missense_Mutation_p.E1144K|CYFIP2_uc003lwt.3_Missense_Mutation_p.E1048K|CYFIP2_uc011ddp.2_Missense_Mutation_p.E879K	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	1170					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGAACCAACGAGTTCACAGC	0.597000														16			5		0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36116684	36116684	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:36116684G>A	uc003jkb.1	-	10	1729	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	438						integral to membrane		p.C437R(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGATGGAAAGGAAGCAGGCAA	0.338000														70			10		0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	420538	420538	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:420538G>A	uc003gae.3	-	4	903	c.368C>T	c.(367-369)gCt>gTt	p.A123V	ABCA11P_uc003gac.2_Missense_Mutation_p.A72V|ABCA11P_uc003gad.2_Non-coding_Transcript|ABCA11P_uc011buv.2_3'UTR|ABCA11P_uc010ibd.2_Missense_Mutation_p.A123V					Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene (ABCA11P), non-coding RNA.																		TTGTTGAAAAGCAACTTTCTT	0.393000														29			16		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23808660	23808660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:23808660G>A	uc003sws.4	+	11	1530	c.1463G>A	c.(1462-1464)gGa>gAa	p.G488E	STK31_uc003swt.4_Missense_Mutation_p.G465E|STK31_uc011jze.2_Missense_Mutation_p.G488E|STK31_uc010kuq.3_Missense_Mutation_p.G465E	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	488							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCCAAAGAAGGAGCAAATTCT	0.358000														120			41		0	0	1	0	0
SLC46A3	283537	broad.mit.edu	37	13	29284944	29284944	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29284944G>A	uc001usj.3	-	3	1639	c.1097C>T	c.(1096-1098)tCt>tTt	p.S366F	SLC46A3_uc001usg.3_Missense_Mutation_p.S291F|SLC46A3_uc001usi.3_Missense_Mutation_p.S366F|SLC46A3_uc001ush.3_Missense_Mutation_p.S366F|SLC46A3_uc001usk.3_3'UTR	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	366					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CCGTAGAACAGAGAATGGCAC	0.388000														88			32		0	0	1	0	0
CLDN8	9073	broad.mit.edu	37	21	31587956	31587956	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:31587956C>T	uc002ynu.2	-	0	514	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_199328	NP_955360	P56748	CLD8_HUMAN	Homo sapiens claudin 8 (CLDN8), mRNA.	96					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.M96V(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						GGATGGCCATCATGAAAGCCA	0.522000														49			17		0	0	1	0	0
NIM1	167359	broad.mit.edu	37	5	43280253	43280253	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:43280253G>A	uc003jno.3	+	3	1614	c.733G>A	c.(733-735)Gag>Aag	p.E245K		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA.	245	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										CTTCCGGGACGAGCACTACAT	0.527000														79			34		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64669638	64669638	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64669638G>A	uc001obx.3	-	28	4030	c.3915C>T	c.(3913-3915)ctC>ctT	p.L1305L	ATG2A_uc001obw.3_Silent_p.L70L	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1305							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ACGCCTGAGGGAGGTGGCCAC	0.647000														47			22		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9066649	9066649	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:9066649C>T	uc003jek.2	-	16	2895	c.2183G>A	c.(2182-2184)cGa>cAa	p.R728Q		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	728	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTATCGGAATCGTTGCTCATA	0.547000														115			53		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27455079	27455079	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27455079C>T	uc002rji.3	+	16	2794	c.2632C>T	c.(2632-2634)Ctt>Ttt	p.L878F	CAD_uc010eyw.3_Missense_Mutation_p.L815F	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	878	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACAGATTGCCCTTGCAGTTCT	0.567000														79			22		0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158745790	158745790	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:158745790G>A	uc003lxr.1	-	5	851	c.809C>T	c.(808-810)tCc>tTc	p.S270F		NM_002187	NP_002178	P29460	IL12B_HUMAN	Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.	270	Fibronectin type-III.				T-helper 1 type immune response|T-helper cell differentiation|cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAATGTCAGGGAGAAGTAGGA	0.507000														62			26		0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8610536	8610536	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8610536G>A	uc001qum.1	+	1	191	c.74G>A	c.(73-75)gGg>gAg	p.G25E		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA.	25					defense response to fungus|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine secretion	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					TCTGTGGCTGGGATTTCCATT	0.493000														51			24		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63149660	63149660	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63149660G>A	uc001nww.3	+	5	1252	c.984G>A	c.(982-984)ctG>ctA	p.L328L	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.	328					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAAAGAACTGGAGGCAGCAC	0.408000														131			64		0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183498122	183498122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:183498122C>T	uc001gqg.3	+	6	902	c.652C>T	c.(652-654)Cct>Tct	p.P218S	SMG7_uc010pob.2_Missense_Mutation_p.P247S|SMG7_uc021pga.1_Missense_Mutation_p.P176S|SMG7_uc001gqf.3_Missense_Mutation_p.P218S|SMG7_uc001gqh.3_Missense_Mutation_p.P218S|SMG7_uc010poc.2_Missense_Mutation_p.P176S	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	218					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TGTGAAGTTCCCTTTCCCAGC	0.418000														104			37		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202124	39202124	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:39202124G>A	uc003jls.3	-	0	1006	c.939C>T	c.(937-939)ttC>ttT	p.F313F	FYB_uc003jlt.3_Silent_p.F313F|FYB_uc003jlu.3_Silent_p.F313F|FYB_uc011cpl.2_Silent_p.F323F	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	313					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GGGCCTTAGGGAACCTGGCAG	0.498000														67			27		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313882	54313882	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54313882G>A	uc002qcj.4	-	2	1251	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.P344L|NLRP12_uc002qci.4_Missense_Mutation_p.P344L|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.P344L	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	344	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.R343R(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAAAGCCGTGGGCCGTGTGGT	0.547000														118			48		0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29695762	29695762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:29695762C>T	uc003aet.3	+	15	2180	c.1852C>T	c.(1852-1854)Cct>Tct	p.P618S	EWSR1_uc003aev.3_Missense_Mutation_p.P623S|EWSR1_uc003aex.3_Missense_Mutation_p.P617S|EWSR1_uc003aew.3_Missense_Mutation_p.P562S|EWSR1_uc003aey.3_Missense_Mutation_p.P413S|EWSR1_uc003aez.3_Missense_Mutation_p.P279S	NM_005243	NP_005234	Q01844	EWS_HUMAN	Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA.	618	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	RNA binding|calmodulin binding|nucleotide binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACGAGGTGGCCCTGGGGGGCC	0.597000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""									8			7		0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87744939	87744939	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:87744939C>T	uc003hqd.2	-	5	1184	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	346						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TCATTCACCTCCAAGAAGGCA	0.498000														74			33		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051383	96051383	+	Silent	SNP	C	T	T	rs143402775		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:96051383C>T	uc004ati.1	+	19	4458	c.4458C>T	c.(4456-4458)ctC>ctT	p.L1486L	WNK2_uc011lud.1_Silent_p.L1449L|WNK2_uc004atj.3_Silent_p.L1449L|WNK2_uc004atk.3_Silent_p.L1086L|WNK2_uc004atl.1_Silent_p.L44L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1486					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGCAGCCCCTCGTGGTGGGCC	0.677000														5			3		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101818765	101818765	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:101818765C>T	uc001pgm.3	+	3	668	c.398C>T	c.(397-399)tCc>tTc	p.S133F	KIAA1377_uc001pgn.3_Missense_Mutation_p.S89F|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	133							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TCTTTAGTTTCCCGAAAACCA	0.333000														66			9		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71139691	71139691	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:71139691G>A	uc001swi.2	-	5	1328	c.914C>T	c.(913-915)cCt>cTt	p.P305L	PTPRR_uc001swh.2_Missense_Mutation_p.P60L|PTPRR_uc009zrs.3_Missense_Mutation_p.P99L|PTPRR_uc010stq.2_Missense_Mutation_p.P193L|PTPRR_uc010str.1_Missense_Mutation_p.P154L	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	305					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCGGCCTTGAGGGTCCACGAC	0.532000														37			24		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48677180	48677180	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48677180C>T	uc002irk.1	+	16	4022	c.3650C>T	c.(3649-3651)cCc>cTc	p.P1217L	CACNA1G_uc002iri.1_Missense_Mutation_p.P1217L|CACNA1G_uc002irj.1_Missense_Mutation_p.P1194L|CACNA1G_uc002irl.1_Missense_Mutation_p.P1194L|CACNA1G_uc002irm.1_Missense_Mutation_p.P1194L|CACNA1G_uc002irn.1_Missense_Mutation_p.P1194L|CACNA1G_uc002iro.1_Missense_Mutation_p.P1194L|CACNA1G_uc002irp.1_Missense_Mutation_p.P1217L|CACNA1G_uc002irq.1_Missense_Mutation_p.P1194L|CACNA1G_uc002irr.1_Missense_Mutation_p.P1217L|CACNA1G_uc002irs.1_Missense_Mutation_p.P1217L|CACNA1G_uc002irt.1_Missense_Mutation_p.P1217L|CACNA1G_uc002iru.1_Missense_Mutation_p.P1194L|CACNA1G_uc002irv.1_Missense_Mutation_p.P1217L|CACNA1G_uc002irw.1_Missense_Mutation_p.P1194L|CACNA1G_uc002irx.1_Missense_Mutation_p.P1130L|CACNA1G_uc002iry.1_Missense_Mutation_p.P1130L|CACNA1G_uc002isg.1_Missense_Mutation_p.P1130L|CACNA1G_uc002ish.1_Missense_Mutation_p.P1130L|CACNA1G_uc002isi.1_Missense_Mutation_p.P1107L|CACNA1G_uc002irz.1_Missense_Mutation_p.P1130L|CACNA1G_uc002isa.1_Missense_Mutation_p.P1130L|CACNA1G_uc002isd.1_Missense_Mutation_p.P1130L|CACNA1G_uc002isb.1_Missense_Mutation_p.P1130L|CACNA1G_uc002isc.1_Missense_Mutation_p.P1130L|CACNA1G_uc002ise.1_Missense_Mutation_p.P1130L|CACNA1G_uc002isf.1_Missense_Mutation_p.P1130L|CACNA1G_uc002isj.3_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1217					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGATGACCCCCCACTGGAT	0.667000														33			5		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872121	213872121	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:213872121G>A	uc002vem.3	-	7	1713	c.1544C>T	c.(1543-1545)tCa>tTa	p.S515L	IKZF2_uc010fuu.3_Missense_Mutation_p.S370L|IKZF2_uc002vej.3_Missense_Mutation_p.S462L|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.S441L|IKZF2_uc002vel.3_Missense_Mutation_p.S436L|IKZF2_uc010fuw.3_Missense_Mutation_p.S289L|IKZF2_uc010fux.3_Missense_Mutation_p.S289L|IKZF2_uc010fuy.3_Missense_Mutation_p.S443L|IKZF2_uc002ven.3_Missense_Mutation_p.S489L|IKZF2_uc002vei.3_Missense_Mutation_p.S293L	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AATGTGTGATGAAAACTCATA	0.483000														105			25		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130408766	130408766	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:130408766G>A	uc004ewe.4	-	17	3856	c.3573C>T	c.(3571-3573)ccC>ccT	p.P1191P	IGSF1_uc004ewd.3_Silent_p.P1186P|IGSF1_uc022cdv.1_Silent_p.P1177P|IGSF1_uc004ewf.2_Silent_p.P1166P	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1186	Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CACCTGGCAGGGGTCCTCGGC	0.502000														57			88		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439343	150439343	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150439343G>A	uc022apw.1	+	5	868	c.728G>A	c.(727-729)gGg>gAg	p.G243E	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.G39E	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		ACAGGCTGCGGGAAAAGTGCC	0.507000														73			31		0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132199880	132199880	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:132199880G>A	uc003kxz.1	-	0	598	c.346C>T	c.(346-348)Ctc>Ttc	p.L116F	GDF9_uc011cxj.1_Missense_Mutation_p.L28F|UQCRQ_uc003kya.1_5'Flank	NM_005260	NP_005251	O60383	GDF9_HUMAN	Homo sapiens growth differentiation factor 9 (GDF9), mRNA.	116					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.R115W(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGGTGAAGAGCCGAACAGTG	0.483000														107			28		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124193559	124193559	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124193559G>A	uc003ehg.3	+	25	4202	c.4075G>A	c.(4075-4077)Gga>Aga	p.G1359R	KALRN_uc010hrv.1_Missense_Mutation_p.G1350R|KALRN_uc003ehf.1_Missense_Mutation_p.G1359R|KALRN_uc011bjy.1_Missense_Mutation_p.G1350R|KALRN_uc003ehh.1_Missense_Mutation_p.G705R	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1359	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G1359G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGAGGATGTGGGACACTGCTT	0.517000														53			18		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316279	30316279	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:30316279C>T	uc009xle.2	-	2	2935	c.2798G>A	c.(2797-2799)gGc>gAc	p.G933D	KIAA1462_uc001iux.3_Missense_Mutation_p.G933D|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.G795D	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	933										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCGAAAGCGGCCCGGGGATGG	0.607000														72			10		0	0	1	0	0
AADAT	51166	broad.mit.edu	37	4	170990371	170990371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:170990371G>A	uc003isr.3	-	6	1073	c.731C>T	c.(730-732)cCa>cTa	p.P244L	AADAT_uc003iss.3_Missense_Mutation_p.P244L|AADAT_uc003ist.3_Missense_Mutation_p.P248L	NM_016228	NP_872603	Q8N5Z0	AADAT_HUMAN	Homo sapiens aminoadipate aminotransferase (AADAT), transcript variant 1, mRNA.	244					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AAGAAATGTTGGTACCCTGAA	0.388000														36			23		0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120007815	120007815	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:120007815C>T	uc011muc.2	-	1	1090	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	279										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TCTTTCTCTTCCTCGCCTGCA	0.458000														149			210		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108012092	108012092	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:108012092G>A	uc001tmk.1	+	9	2910	c.2389G>A	c.(2389-2391)Gag>Aag	p.E797K	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Missense_Mutation_p.E797K|BTBD11_uc001tml.1_Missense_Mutation_p.E334K	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	797						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGCCCTGAGGGAGGCCATGTA	0.627000														34			11		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29917838	29917838	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29917838G>A	uc002rmy.3	-	2	1782	c.830C>T	c.(829-831)tCc>tTc	p.S277F		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	277	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CAGTGGAGGGGAATACTCCAG	0.567000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					79			30		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228155603	228155603	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228155603G>A	uc002vom.2	+	37	3372	c.3210_splice	c.e37+1	p.T1070_splice	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1070	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGGACCAACGGTATATAGGCC	0.478000														21			5		0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39883676	39883676	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:39883676C>T	uc003axv.4	+	1	563	c.324C>T	c.(322-324)ttC>ttT	p.F108F	MGAT3_uc010gxy.3_Silent_p.F108F	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	108					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCGAGTATTTCGTGCGCACCA	0.706000														21			7		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157494322	157494322	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157494322G>A	uc009wsm.3	-	9	2144	c.1986C>T	c.(1984-1986)acC>acT	p.T662T	FCRL5_uc001fqu.3_Silent_p.T662T|FCRL5_uc010phv.1_Silent_p.T662T|FCRL5_uc010phw.1_Silent_p.T577T	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	662	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGCCCTGAAGGTGAGGATGG	0.507000														38			22		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30724604	30724604	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30724604C>T	uc002dze.1	+	14	2591	c.2206C>T	c.(2206-2208)Cgt>Tgt	p.R736C	SRCAP_uc021tgn.1_Missense_Mutation_p.R736C|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.R593C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	736	Helicase ATP-binding.				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)			CCAGGCCTTCCGTCGCAAGAA	0.522000														82			25		0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200819244	200819244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:200819244C>T	uc001gvl.3	+	11	3650	c.3380C>T	c.(3379-3381)tCc>tTc	p.S1127F	CAMSAP2_uc001gvk.3_Missense_Mutation_p.S1116F|CAMSAP2_uc001gvm.3_Missense_Mutation_p.S1100F	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	1127						cytoplasm|microtubule	protein binding										ATTGAAGTTTCCCTCTCAGAT	0.413000														115			63		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87966146	87966146	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:87966146G>A	uc001kdl.1	-	2	596	c.495C>T	c.(493-495)ttC>ttT	p.F165F	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	165						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGAACATGACGAACTTCTGCC	0.617000										Multiple Myeloma(13;0.14)				58			6		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052360	44052360	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:44052360G>A	uc001jaw.4	-	1	1821	c.1168C>T	c.(1168-1170)Ctt>Ttt	p.L390F	ZNF239_uc001jax.4_Missense_Mutation_p.L390F|ZNF239_uc009xmj.3_Missense_Mutation_p.L390F|ZNF239_uc009xmk.3_Missense_Mutation_p.L390F|ZNF239_uc021pph.1_Missense_Mutation_p.L390F	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGGATGCGAAGATCCGAGCTC	0.527000														78			8		0	0	1	0	0
MYL10	93408	broad.mit.edu	37	7	101256771	101256771	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:101256771C>T	uc003uyr.3	-	7	843	c.665G>A	c.(664-666)gGt>gAt	p.G222D		NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN	Homo sapiens myosin, light chain 10, regulatory (MYL10), mRNA.	222	EF-hand 3.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CTTCTCTTCACCGTGAGTGAT	0.547000														91			14		0	0	1	0	0
CLLU1OS	574016	broad.mit.edu	37	12	92814813	92814813	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:92814813C>T	uc001tcb.1	-	2	281	c.279G>A	c.(277-279)ggG>ggA	p.G93G	CLLU1_uc001tcc.2_5'Flank|CLLU1_uc001tcd.2_5'Flank|CLLU1_uc001tce.1_5'Flank|CLLU1_uc001tcf.2_5'Flank	NM_001025232	NP_001020403	Q5K130	CLU1O_HUMAN	Homo sapiens chronic lymphocytic leukemia up-regulated 1 opposite strand (CLLU1OS), mRNA.	93								p.D92N(1)		large_intestine(1)|lung(7)	8						CTTCCTTCTTCCCATCATCAT	0.428000														347			79		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55202097	55202097	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:55202097G>A	uc003jql.3	+	8	1425	c.1233G>A	c.(1231-1233)acG>acA	p.T411T	IL31RA_uc003jqk.3_Silent_p.T411T|IL31RA_uc011cqj.2_Silent_p.T269T|IL31RA_uc003jqm.3_Silent_p.T392T|IL31RA_uc003jqn.3_Silent_p.T411T|IL31RA_uc010iwa.1_Silent_p.T379T|IL31RA_uc021xyq.1_Silent_p.T392T|IL31RA_uc003jqo.3_Silent_p.T269T	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	379	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)				CTCAGGCCACGAACTGGACGA	0.498000														38			19		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79375891	79375891	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:79375891G>A	uc021yaw.1	+	19	2866	c.2675G>A	c.(2674-2676)gGc>gAc	p.G892D	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	892	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CCCCAGGTGGGCTACATCAGG	0.557000														18			3		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256729	140256729	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140256729G>A	uc003lic.2	+	0	1799	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	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.E558K	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	572	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAGAACGACAA	0.701000														153			66		0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164272255	164272255	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:164272255G>A	uc003iqn.3	+	3	1012	c.830G>A	c.(829-831)tGg>tAg	p.W277*	NPY5R_uc021xtw.1_Nonsense_Mutation_p.W277*	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	277					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AGCCATAAATGGAGTTATTCA	0.398000														79			28		0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52940209	52940209	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52940209C>T	uc001sao.3	-	6	1256	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	396	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCCTCCAGCTCGTCCAGCTTG	0.632000														57			19		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105174066	105174066	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105174066C>T	uc001kwy.1	+	10	1437	c.1350C>T	c.(1348-1350)atC>atT	p.I450I		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	450					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ATCATGACATCGAACCTGGGG	0.443000														37			18		0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68777148	68777148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:68777148C>T	uc003hdr.1	-	9	1299	c.1178G>A	c.(1177-1179)gGa>gAa	p.G393E	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.G390E	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	393	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ACAGTTATCTCCCCAGCTTAC	0.388000														102			31		0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47583819	47583819	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:47583819G>A	uc002ioz.4	+	2	492	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	123					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					TGGGCGCTGCGAGGCGTGCCG	0.697000														16			11		0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96827036	96827036	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:96827036C>T	uc004auf.2	+	1	355	c.15C>T	c.(13-15)gtC>gtT	p.V5V	PTPDC1_uc004aug.2_Silent_p.V5V	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 2, mRNA.	5							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CTGCAGGAGTCTTGCCTCAGA	0.368000														47			20		0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151400505	151400505	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151400505G>A	uc001eyd.2	-	6	1187	c.872C>T	c.(871-873)cCc>cTc	p.P291L	POGZ_uc021oyq.1_Missense_Mutation_p.P238L|POGZ_uc010pdb.2_Intron|POGZ_uc010pdc.2_Intron|POGZ_uc009wmv.2_Missense_Mutation_p.P196L|POGZ_uc001eyf.2_Missense_Mutation_p.P238L|POGZ_uc010pdd.2_Intron|POGZ_uc001eyg.2_Missense_Mutation_p.P291L	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	291					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGGTGGAGAGGGGAAGGAGGG	0.517000														82			21		0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985516	108985517	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:108985516_108985517CC>TT	uc001tng.3	-	1	806_807	c.643_644GG>AA	c.(643-645)ggg>AAg	p.G215K	TMEM119_uc021rdl.1_Missense_Mutation_p.G215K	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	215						integral to membrane		p.E214K(1)		large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						TTCCTGGTCCCCCTCCTGGCTG	0.688000														63			25		0	0	1	0	0
USP41	373856	broad.mit.edu	37	22	20729881	20729881	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:20729881G>A	uc011ahq.1	-	1	143	c.77C>T	c.(76-78)cCt>cTt	p.P26L	USP41_uc011ahp.1_5'Flank					RecName: Full=Putative ubiquitin carboxyl-terminal hydrolase 41;          EC=3.4.19.12; AltName: Full=Deubiquitinating enzyme 41; AltName: Full=Ubiquitin thiolesterase 41; AltName: Full=Ubiquitin-specific-processing protease 41;											endometrium(1)|kidney(1)|lung(2)|skin(1)	5						CATCTGGAAAGGGACGCTTCT	0.577000														19			5		0	0	1	0	0
ALDH9A1	223	broad.mit.edu	37	1	165652225	165652225	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:165652225G>A	uc001gdh.1	-	2	555	c.450C>T	c.(448-450)tcC>tcT	p.S150S	ALDH9A1_uc010pky.1_Silent_p.S56S|ALDH9A1_uc010pkz.1_Silent_p.S140S|ALDH9A1_uc010pla.1_Silent_p.S56S	NM_000696	NP_000687	P49189	AL9A1_HUMAN	Homo sapiens aldehyde dehydrogenase 9 family, member A1 (ALDH9A1), mRNA.	126				C -> Q (in Ref. 7; AA sequence).	carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	TACCAGCCATGGATGCAGCCA	0.502000														50			28		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785346	111785346	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:111785346G>A	uc001tsa.2	+	21	3832	c.3678G>A	c.(3676-3678)gaG>gaA	p.E1226E		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1226						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGCGCCGGGAGATGTTGGTGG	0.652000														128			36		0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169677869	169677869	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169677869C>T	uc010pls.2	-	0	129	c.20G>A	c.(19-21)aGa>aAa	p.R7K	C1orf112_uc001ggj.3_Intron|SELL_uc001ggk.3_Missense_Mutation_p.R67K|SELL_uc001ggl.2_Missense_Mutation_p.R67K	NM_000655	NP_000646	P14151	LYAM1_HUMAN	Homo sapiens selectin L (SELL), transcript variant 1, mRNA.	54					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					GCAGAATCTTCTAGCCCTTTG	0.438000														15			9		0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44151644	44151644	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44151644C>T	uc003tkb.3	+	15	2337	c.2032C>T	c.(2032-2034)Cag>Tag	p.Q678*	AEBP1_uc003tkc.4_Nonsense_Mutation_p.Q253*|AEBP1_uc003tkd.3_5'UTR	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	678	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GGTGGCAGCGCAGATGGTGGG	0.657000														28			16		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58551905	58551905	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58551905C>T	uc002qrc.1	+	3	705	c.458C>T	c.(457-459)cCa>cTa	p.P153L		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	153					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E152A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CAGAAAGAACCATCGCAGGTG	0.622000														115			29		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35832298	35832298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35832298C>T	uc010edt.3	+	7	1644	c.1560C>T	c.(1558-1560)caC>caT	p.H520H	CD22_uc010edu.3_Silent_p.H432H|CD22_uc010edv.3_Silent_p.H520H|CD22_uc002nzb.4_Silent_p.H343H|CD22_uc010xst.2_Silent_p.H348H|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	520	Ig-like C2-type 5.				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)	CCGAGATTCACTCTGGAAACT	0.552000														43			29		0	0	1	0	0
GPX3	2878	broad.mit.edu	37	5	150407532	150407532	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:150407532G>A	uc021yga.1	+	4	739	c.522G>A	c.(520-522)atG>atA	p.M174I		NM_002084	NP_002075	P22352	GPX3_HUMAN	Homo sapiens glutathione peroxidase 3 (plasma) (GPX3), mRNA.	174					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	GGGAACCCATGAAGGTTCACG	0.567000														60			19		0	0	1	0	0
PYGO1	26108	broad.mit.edu	37	15	55838477	55838477	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:55838477G>A	uc002adf.1	-	2	1004	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L	PYGO1_uc010bfl.1_Missense_Mutation_p.S335L	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.	335					Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GTCAGAAGACGAATGGCCATG	0.473000														213			96		0	0	1	0	0
C1orf200	644997	broad.mit.edu	37	1	9714487	9714487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:9714487G>A	uc001aqc.4	-	0	158	c.8C>T	c.(7-9)tCc>tTc	p.S3F	PIK3CD_uc001aqa.2_Intron|PIK3CD_uc001aqb.4_Intron					Homo sapiens chromosome 1 open reading frame 200 (C1orf200), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)		GGCAGACTGGGAGGGCATCAG	0.577000														50			23		0	0	1	0	0
TMEM61	199964	broad.mit.edu	37	1	55457675	55457675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55457675G>A	uc001cyd.3	+	2	806	c.532G>A	c.(532-534)Gag>Aag	p.E178K		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	Homo sapiens transmembrane protein 61 (TMEM61), mRNA.	178						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						ACCCAGCTATGAGAGCATCAG	0.622000														131			17		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829395	61829395	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61829395C>T	uc001jky.3	-	36	11582	c.11244G>A	c.(11242-11244)gtG>gtA	p.V3748V	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.	3748					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						AACTGGTCATCACCGCTTCTA	0.418000														156			60		0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76027102	76027102	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:76027102G>A	uc003ufb.3	-	5	949	c.601C>T	c.(601-603)Cga>Tga	p.R201*	ZP3_uc003ufc.4_5'UTR	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	201	SRCR 2.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						ATCTCCACTCGGCCCTGACAC	0.711000														14			4		0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89100768	89100768	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:89100768G>A	uc010fhg.3	+	12		c.1208G>A			ANKRD36BP2_uc010fhh.3_Non-coding_Transcript|ANKRD36BP2_uc010fhi.1_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 36B pseudogene 2 (ANKRD36BP2), non-coding RNA.																		TAAATGAATTGAATCATTTGA	0.333000														49			22		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28993086	28993086	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28993086C>T	uc002kwr.2	+	14	2843	c.2708C>T	c.(2707-2709)aCt>aTt	p.T903I	DSG4_uc002kwq.2_Missense_Mutation_p.T884I	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	884					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCAGGATTGACTCCCTCAGAA	0.428000														119			53		0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30794044	30794044	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30794044G>A	uc002dzs.1	-	2	1813	c.1605C>T	c.(1603-1605)atC>atT	p.I535I		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CCCTCTCATGGATCACCCGGT	0.697000														16			7		0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7723765	7723765	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7723765G>A	uc010rbf.2	-	3	402	c.402C>T	c.(400-402)tcC>tcT	p.S134S		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		GTTTCTTGGTGGAGAAATGTG	0.418000														19			16		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152382267	152382267	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152382267C>T	uc001ezx.2	-	2	1365	c.1291G>A	c.(1291-1293)Gga>Aga	p.G431R		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	431					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTGTCTCCCTGCCCTTCT	0.592000														70			34		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475258	140475258	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140475258G>A	uc003lil.3	+	0	1022	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	295	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAACGTTTCGATTAAGTGCA	0.428000														103			10		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43766210	43766210	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43766210G>A	uc002owd.4	-	2	610	c.511C>T	c.(511-513)Cct>Tct	p.P171S	PSG9_uc002owe.4_Missense_Mutation_p.P171S|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.P171S	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	171	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGAGTCTCAGGATCACAGATT	0.532000														275			111		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55198609	55198609	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55198609G>A	uc003pcm.1	+	2	269	c.183G>A	c.(181-183)agG>agA	p.R61R		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	61						integral to membrane	receptor activity	p.R61K(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCAAGATGAGGAATTCATCAT	0.358000														143			56		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28660122	28660122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28660122C>T	uc002kwl.4	-	9	1914	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E	DSC2_uc002kwk.4_Missense_Mutation_p.G487E	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	487	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GCTTGTTGTTCCCACTTCTGC	0.383000														97			46		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111470890	111470890	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:111470890G>A	uc003iab.4	+	16	2691	c.2349G>A	c.(2347-2349)agG>agA	p.R783R		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	783					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TAAATCTCAGGCTTCTGGTGT	0.388000														104			18		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718224	42718224	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:42718224G>A	uc021xxv.1	+	9	1103	c.966_splice	c.e9+1	p.K322_splice	GHR_uc003jmt.3_Splice_Site_p.K315_splice|GHR_uc003jmu.3_Splice_Site_p.K315_splice|GHR_uc003jmv.2_Splice_Site_p.K315_splice|GHR_uc021xxw.1_Splice_Site_p.K315_splice|GHR_uc021xxx.1_Splice_Site_p.K315_splice|GHR_uc021xxy.1_Splice_Site_p.K315_splice|GHR_uc021xxz.1_Splice_Site_p.K315_splice|GHR_uc021xya.1_Splice_Site_p.K315_splice|GHR_uc021xyb.1_Splice_Site|GHR_uc021xyc.1_Intron|GHR_uc011cpq.2_Splice_Site_p.K128_splice|GHR_uc021xyd.1_Splice_Site_p.K293_splice	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	315					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCTCCTCAAGGTAACTAATAA	0.328000														66			29		0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233274432	233274432	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233274432C>T	uc002vss.4	+	10	1502	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	483					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TCATGGCCTTCGCCGCCTGCC	0.751000														25			14		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175299218	175299218	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175299218C>T	uc001gkp.1	-	18	3866	c.3785G>A	c.(3784-3786)gGc>gAc	p.G1262D	TNR_uc009wwu.1_Missense_Mutation_p.G1262D	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1262	Fibrinogen C-terminal.				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)					ACCCGCAGTGCCGTTGTAGCT	0.592000														52			21		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158323823	158323823	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158323823G>A	uc001fse.3	+	0	338	c.45G>A	c.(43-45)ggG>ggA	p.G15G	CD1E_uc010pid.2_Intron|CD1E_uc010pie.2_Silent_p.G15G|CD1E_uc001fsh.3_Silent_p.G15G|CD1E_uc001fry.3_Silent_p.G15G|CD1E_uc001fsf.3_Silent_p.G15G|CD1E_uc001fsg.3_Silent_p.G15G|CD1E_uc009wsv.3_Silent_p.G15G|CD1E_uc001fsj.3_Silent_p.G15G|CD1E_uc001fsk.3_Silent_p.G15G|CD1E_uc001fsa.3_Silent_p.G15G|CD1E_uc001fsd.3_Silent_p.G15G|CD1E_uc001frz.3_Silent_p.G15G|CD1E_uc010pig.2_Silent_p.G15G|CD1E_uc001fsc.3_Silent_p.G15G|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	15			G -> E (in dbSNP:rs3180089).		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)					GCTGTCCTGGGGAAAATACAG	0.542000														59			6		0	0	1	0	0
SCN4B	6330	broad.mit.edu	37	11	118007795	118007795	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118007795C>T	uc001pse.3	-	4	876	c.634G>A	c.(634-636)Gag>Aag	p.E212K	SCN4B_uc010rxu.2_Missense_Mutation_p.E102K|SCN4B_uc010rxv.2_Missense_Mutation_p.E78K	NM_174934	NP_001135821	Q8IWT1	SCN4B_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, beta (SCN4B), transcript variant 1, mRNA.	212						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T211T(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		AAGCCGTTCTCCGTGTTGTCA	0.577000														32			9		0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987554	61987555	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61987554_61987555CC>TT	uc002jda.1	-	3	500_501	c.438_439GG>AA	c.(436-441)aaggac>aaAAac	p.D147N	CSHL1_uc002jcz.1_Missense_Mutation_p.D124N|CSHL1_uc002jdb.1_Missense_Mutation_p.D53N|CSHL1_uc002jdc.1_Missense_Mutation_p.D64N|CSHL1_uc002jdd.1_Missense_Mutation_p.D85N|CSHL1_uc021ubn.1_3'UTR	NM_022579	NP_001309	Q14406	CSHL_HUMAN	Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA.	147						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TCCTCTAGGTCCTTTAGGAGGT	0.589000														79			7		0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67053896	67053896	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:67053896G>A	uc003dmy.3	+	2	558	c.505G>A	c.(505-507)Gat>Aat	p.D169N	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	169	BACK.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GGAACTCGGAGATCGATCAAA	0.383000														79			20		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15646284	15646284	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15646284C>T	uc001ioc.1	-	19	2041	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	ITGA8_uc010qcb.1_Missense_Mutation_p.E666K	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	681					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.G680V(1)|p.G680G(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TATGCTCCTTCCCCTTCATTT	0.358000														60			29		0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703819	55703819	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55703819G>A	uc010ris.2	-	0	58	c.58C>T	c.(58-60)Cca>Tca	p.P20S		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGGCGAGTTGGAAAACCTAAT	0.373000														53			16		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98996696	98996696	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:98996696G>A	uc010fij.3	+	3	427	c.286G>A	c.(286-288)Gac>Aac	p.D96N	CNGA3_uc002syt.3_Missense_Mutation_p.D92N|CNGA3_uc002syu.3_Missense_Mutation_p.D92N			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	92					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCACCACCAGGACCAGGGACC	0.592000														96			32		0	0	1	0	0
UQCRHL	440567	broad.mit.edu	37	1	16133972	16133972	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16133972G>A	uc009vol.1	-	0	223	c.173C>T	c.(172-174)tCc>tTc	p.S58F		NM_001089591	NP_001083060			Homo sapiens ubiquinol-cytochrome c reductase hinge protein-like (UQCRHL), mRNA.																		TGATCGAGAGGATACATGCTC	0.478000														160			68		0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142001208	142001208	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142001208C>T	uc011kro.1	+	1	345	c.300C>T	c.(298-300)tcC>tcT	p.S100S	TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		AGATCCGGTCCACAAAGCTGG	0.453000														26			6		0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58920793	58920793	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:58920793C>T	uc010rkp.2	+	4	1879	c.1652C>T	c.(1651-1653)tCa>tTa	p.S551L	FAM111A_uc010rkq.2_Missense_Mutation_p.S551L|FAM111A_uc010rkr.2_Missense_Mutation_p.S551L|FAM111A_uc001nno.3_Missense_Mutation_p.S551L|FAM111A_uc001nnp.3_Missense_Mutation_p.S551L|FAM111A_uc001nnq.3_Missense_Mutation_p.S551L	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	551					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TCAAAAGGTTCATTGGTGGCC	0.428000														131			59		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139636053	139636053	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:139636053G>A	uc011kqv.2	+	4	635	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	TBXAS1_uc003vvh.3_Missense_Mutation_p.E134K|TBXAS1_uc010lne.3_Missense_Mutation_p.E66K|TBXAS1_uc011kqu.2_Missense_Mutation_p.E85K|TBXAS1_uc003vvi.3_Missense_Mutation_p.E134K|TBXAS1_uc011kqw.2_Missense_Mutation_p.E114K|TBXAS1_uc003vvj.3_Missense_Mutation_p.E134K	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	133					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CAAAAGATGGGAAGAGGTCAG	0.498000														180			78		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234452365	234452365	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:234452365C>T	uc001hvy.1	+	4	991	c.846C>T	c.(844-846)ctC>ctT	p.L282L	SLC35F3_uc001hwa.1_Silent_p.L213L	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	213					transport	integral to membrane		p.L282I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CCGCCATCCTCGCCATCGCTG	0.577000														370			148		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961968	34961968	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:34961968G>A	uc004ddi.2	+	0	1056	c.1020G>A	c.(1018-1020)cgG>cgA	p.R340R		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	340										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ACACTCATCGGGTGTCCAGTT	0.587000														15			32		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80044325	80044325	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:80044325G>A	uc002kdu.3	-	21	3654	c.3537C>T	c.(3535-3537)ccC>ccT	p.P1179P	FASN_uc002kdw.1_Silent_p.P395P	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1179					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	ACAACAGCCGGGGCAGTTCCT	0.677000														31			17		0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88418324	88418324	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:88418324C>T	uc010qmk.1	+	4	768	c.541C>T	c.(541-543)Ctg>Ttg	p.L181L	OPN4_uc001kdp.3_Silent_p.L181L|OPN4_uc001kdq.3_Silent_p.L170L|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	170					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GGACCGCTACCTGGTAATCAC	0.612000														69			13		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73045805	73045805	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:73045805C>T	uc010izf.3	+	2	353	c.177C>T	c.(175-177)gtC>gtT	p.V59V	RGNEF_uc011csq.2_Silent_p.V59V|RGNEF_uc003kcy.1_Silent_p.V59V|RGNEF_uc021yam.1_Silent_p.V59V	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	59					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		AGTCCAGCGTCCCAGGTGAGG	0.483000														81			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077764	9077764	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9077764G>A	uc002mkp.3	-	2	9886	c.9682C>T	c.(9682-9684)Cct>Tct	p.P3228S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3229	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						GTCTTCCAAGGAGAATTTCTC	0.522000														139			41		0	0	1	0	0
MS4A6A	64231	broad.mit.edu	37	11	59949119	59949119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59949119C>T	uc010rla.2	-	2	639	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	MS4A6A_uc001noq.3_Missense_Mutation_p.E28K|MS4A6A_uc009ymv.3_Missense_Mutation_p.E28K|MS4A6A_uc001not.3_Missense_Mutation_p.E28K|MS4A6A_uc010rlb.2_Missense_Mutation_p.E28K	NM_001247999	NP_001234928	Q9H2W1	M4A6A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA.	28						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGGTGGGTTCGGGTTTCTCT	0.463000														127			57		0	0	1	0	0
LIMS1	3987	broad.mit.edu	37	2	109276190	109276190	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:109276190C>T	uc002teg.3	+	1	255	c.126C>T	c.(124-126)ttC>ttT	p.F42F	LIMS1_uc002tel.3_Silent_p.F54F|LIMS1_uc002teh.3_Silent_p.F42F|LIMS1_uc002tei.3_Silent_p.F46F|LIMS1_uc002tej.3_Silent_p.F79F|LIMS1_uc002tek.4_Silent_p.F104F	NM_004987	NP_004978	P48059	LIMS1_HUMAN	Homo sapiens LIM and senescent cell antigen-like domains 1 (LIMS1), transcript variant 2, mRNA.	42	LIM zinc-binding 1.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						CTCAGTGCTTCCAGCAGTTCC	0.577000														98			19		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234915531	234915531	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234915531G>A	uc002vvh.3	+	22	3205	c.3165G>A	c.(3163-3165)tgG>tgA	p.W1055*	TRPM8_uc010fyj.3_Nonsense_Mutation_p.W633*|TRPM8_uc010fyk.3_Non-coding_Transcript	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	1055						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTCTGGCATGGGAGGGTGTCA	0.398000														30			13		0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226549171	226549171	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:226549171G>A	uc001hqd.4	-	22	3206	c.3035C>T	c.(3034-3036)tCc>tTc	p.S1012F		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	1012	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTACCACAGGGAGGTCTTAAA	0.478000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						38			5		0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61553906	61553906	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:61553906G>A	uc010oos.2	+	2	330	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	NFIA_uc001czy.3_Missense_Mutation_p.R30Q|NFIA_uc001czw.3_Missense_Mutation_p.R38Q|NFIA_uc001czv.3_Missense_Mutation_p.R38Q	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	38					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GCCCGAAAACGAAAATACTTC	0.438000														172			33		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75679468	75679468	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75679468G>A	uc010oqz.1	-	20	2067	c.2001C>T	c.(1999-2001)gcC>gcT	p.A667A	SLC44A5_uc001dgt.2_Silent_p.A628A|SLC44A5_uc001dgs.2_Silent_p.A586A|SLC44A5_uc001dgr.2_Silent_p.A586A|SLC44A5_uc001dgu.3_Silent_p.A628A|SLC44A5_uc010ora.2_Silent_p.A622A|SLC44A5_uc010orb.2_Silent_p.A498A	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	628						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGAATAGGAAGGCCAGAACAC	0.368000														92			40		0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3659212	3659212	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:3659212C>T	uc001qmf.3	+	2	739	c.372C>T	c.(370-372)atC>atT	p.I124I	PRMT8_uc009zed.3_Silent_p.I115I|PRMT8_uc009zee.1_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	124					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GTACTGGGATCCTTTCCATGT	0.572000														91			49		0	0	1	0	0
MYADM	91663	broad.mit.edu	37	19	54377181	54377181	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54377181C>T	uc002qcm.3	+	2	546	c.398C>T	c.(397-399)tCg>tTg	p.S133L	MYADM_uc002qcl.3_Missense_Mutation_p.S133L|MYADM_uc002qcn.3_Missense_Mutation_p.S133L|MYADM_uc002qco.3_Missense_Mutation_p.S133L|MYADM_uc002qcp.3_Missense_Mutation_p.S133L|MYADM_uc021vbb.1_Missense_Mutation_p.S133L	NM_138373	NP_612382	Q96S97	MYADM_HUMAN	Homo sapiens myeloid-associated differentiation marker (MYADM), transcript variant 2, mRNA.	133	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		CACGGCCGTTCGCGGGACCAC	0.652000														101			34		0	0	1	0	0
RCBTB1	55213	broad.mit.edu	37	13	50115837	50115837	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:50115837G>A	uc001vde.1	-	10	1560	c.1299C>T	c.(1297-1299)gtC>gtT	p.V433V		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	433	BTB 1.				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GCGGCAGGTCGACTGTGTCTG	0.458000														50			30		0	0	1	0	0
PCDHB17	54661	broad.mit.edu	37	5	140537091	140537091	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140537091C>T	uc003lis.3	+	0	1512	c.1512C>T	c.(1510-1512)gtC>gtT	p.V504V						Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA.																		CCTCCCTGGTCTCCATCAACA	0.652000														197			58		0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33027990	33027990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33027990C>T	uc010geu.1	+	9	1025	c.833C>T	c.(832-834)tCt>tTt	p.S278F	ITCH_uc002xak.2_Missense_Mutation_p.S237F|ITCH_uc010zuj.1_Missense_Mutation_p.S127F	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.	278					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TCTGCCACTTCTGAAAGTGAT	0.358000														60			10		0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26112152	26112152	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:26112152C>T	uc001uqk.3	+	6	676	c.534C>T	c.(532-534)gtC>gtT	p.V178V	ATP8A2_uc010tdi.2_Silent_p.V138V|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Silent_p.V138V	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	138					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTGTGAAGGTCGTCAATGGGC	0.448000														55			17		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30703584	30703584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:30703584C>T	uc003xil.3	-	0	2950	c.2950G>A	c.(2950-2952)Gaa>Aaa	p.E984K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	984										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAAGATGCTTCATCACTTAGG	0.348000														141			37		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45404008	45404008	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45404008C>T	uc001zun.3	-	4	674	c.471G>A	c.(469-471)tgG>tgA	p.W157*	DUOX2_uc010bea.3_Nonsense_Mutation_p.W157*|DUOXA2_uc001zuo.3_5'Flank|DUOXA2_uc010beb.3_5'Flank	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	157	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCTCGGGGTCCCAGCGGCTCC	0.726000														13			5		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6062203	6062203	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:6062203C>T	uc010idb.1	-	10	2078	c.1592G>A	c.(1591-1593)aGg>aAg	p.R531K	JAKMIP1_uc010idc.1_Missense_Mutation_p.R346K|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Missense_Mutation_p.R531K|JAKMIP1_uc011bwc.2_Missense_Mutation_p.R366K|JAKMIP1_uc003giv.4_Missense_Mutation_p.R531K|JAKMIP1_uc010ide.3_Missense_Mutation_p.R531K	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	531	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGCCTGACACCTCAGCAGATC	0.527000														129			37		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43816702	43816702	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43816702C>T	uc001zrt.3	+	3	3498	c.3031C>T	c.(3031-3033)Cat>Tat	p.H1011Y		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1011						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CACACCCTTTCATCAGTCCCC	0.572000														74			32		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066477	73066477	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73066477G>A	uc004ebm.1	-	0		c.6112C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GGTCTTATGGGGTGGGCACTT	0.468000														17			31		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594181	179594181	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179594181C>T	uc021vsy.1	-	60	15195	c.14970G>A	c.(14968-14970)aaG>aaA	p.K4990K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K1651K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5917	Ig-like 30.						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)			CCCTGTTATTCTTCAGCCAAG	0.453000														85			50		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537744	55537744	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55537744C>T	uc003xsd.1	+	3	1450	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	434					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACACAGATATCATCCAGGGAA	0.448000														78			32		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400505	40400505	+	Silent	SNP	C	T	T	rs141680440	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:40400505C>T	uc003oph.1	-	1	813	c.348G>A	c.(346-348)ggG>ggA	p.G116G		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	116						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGTGTCCTCCCCAAGGCTTG	0.587000														31			18		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109704794	109704794	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:109704794G>A	uc010agk.2	+	24	3641	c.3019G>A	c.(3019-3021)Gaa>Aaa	p.E1007K	MYO16_uc001vqt.1_Missense_Mutation_p.E985K|MYO16_uc001vqu.1_Missense_Mutation_p.E785K|MYO16_uc010tjh.1_Missense_Mutation_p.E497K	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	985	Myosin head-like 2.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AATTATTGGAGAAAACAAGAA	0.313000														69			27		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196709907	196709907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:196709907C>T	uc001gtj.4	+	17	3181	c.2941C>T	c.(2941-2943)Cct>Tct	p.P981S	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	981	Sushi 16.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATGGTCTCACCCTCCATCATG	0.343000														66			18		0	0	1	0	0
LPAR5	57121	broad.mit.edu	37	12	6730183	6730183	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6730183G>A	uc009zer.2	-	1	513	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	LPAR5_uc001qps.2_Missense_Mutation_p.R78C|LPAR5_uc010sff.1_Missense_Mutation_p.R78C|LPAR5_uc021qub.1_Missense_Mutation_p.R78C	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN	Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.	78						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						TAGGAGAGACGAACGGGCAGC	0.632000														20			8		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248005088	248005088	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248005088C>T	uc001idn.1	-	0	111	c.111G>A	c.(109-111)ctG>ctA	p.L37L		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L37L(4)|p.L37Q(1)|p.C36Y(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTATAATGGTCAGGCAGTAGA	0.493000														36			11		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52942138	52942138	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52942138C>T	uc002pzk.3	+	3	1531	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.F475F	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GCAAGGTCTTCAGTCAGAATT	0.418000														19			9		0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131702715	131702715	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131702715C>T	uc004bwo.2	+	9	1458	c.525C>T	c.(523-525)atC>atT	p.I175I	NUP188_uc004bwn.2_Missense_Mutation_p.S168L|NUP188_uc004bwm.2_Non-coding_Transcript|NUP188_uc004bwp.2_Silent_p.I154I|NUP188_uc004bwq.1_5'Flank	NM_001100876	NP_001094346	Q5SRE5	NU188_HUMAN	Homo sapiens phytanoyl-CoA dioxygenase domain containing 1 (PHYHD1), transcript variant 1, mRNA.	0					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCGTGTGGATCGCAGTGGAGG	0.647000														77			23		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7531715	7531715	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7531715G>A	uc010sge.2	-	8	2286	c.2260C>T	c.(2260-2262)Cat>Tat	p.H754Y	CD163L1_uc001qsy.3_Missense_Mutation_p.H744Y	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	744	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCTGTGAAATGAGGCTCTCTG	0.478000														121			29		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999077	46999077	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:46999077G>A	uc001jec.3	+	2	332	c.197G>A	c.(196-198)gGg>gAg	p.G66E	GPRIN2_uc021ppt.1_Missense_Mutation_p.G66E	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	66										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GAGGAAGAGGGGAACCCGCCT	0.692000														80			11		0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125289062	125289062	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125289062C>T	uc004bmn.1	-	0	511	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGAGCAATTTCCCCAGTCACA	0.502000														35			9		0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27419836	27419836	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:27419836G>A	uc003njj.3	-	4	2313	c.1502C>T	c.(1501-1503)cCc>cTc	p.P501L	ZNF184_uc010jqv.3_Missense_Mutation_p.P501L|ZNF184_uc003nji.3_Missense_Mutation_p.P501L	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K500E(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GCATTCAAAGGGCTTTTCTCT	0.388000														81			19		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34663471	34663471	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34663471C>T	uc001bxt.3	+	1	1804	c.966C>T	c.(964-966)tcC>tcT	p.S322S	C1orf94_uc001bxs.4_Silent_p.S132S	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	132							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGATCTGTTCCAAGCCCAAGG	0.612000														35			18		0	0	1	0	0
NKAIN3	286183	broad.mit.edu	37	8	63659578	63659578	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:63659578C>T	uc010lyq.1	+	3	493	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA.	121						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				AGTGCTGCCTCCCTCAGCCCA	0.517000														23			13		0	0	1	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32503507	32503507	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32503507G>T	uc001bub.3	+	5	1083	c.977G>T	c.(976-978)gGt>gTt	p.G326V	KHDRBS1_uc001bua.1_Missense_Mutation_p.G287V|KHDRBS1_uc001buc.1_Non-coding_Transcript	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 1 (KHDRBS1), mRNA.	326	Arg/Gly-rich.				G2/M transition of mitotic cell cycle|cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ATCACCAGAGGTGCCACTGTG	0.577000														143			66		7.59065e-32	7.63719e-32	1	1	0
CAP2	10486	broad.mit.edu	37	6	17507491	17507491	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:17507491A>T	uc003ncb.3	+	4	635	c.392A>T	c.(391-393)aAt>aTt	p.N131I	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.N105I|CAP2_uc011djb.2_Missense_Mutation_p.N131I|CAP2_uc011djc.2_Intron|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	131					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AACATGTTTAATCATCTTTCG	0.488000														68			35		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43322566	43322566	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43322566G>A	uc003oux.3	-	3	2584	c.2506C>T	c.(2506-2508)Cgt>Tgt	p.R836C	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	836					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGGATCACACGAAGATTGGGA	0.527000														101			11		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95380460	95380460	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95380460C>T	uc001kiu.4	+	1	690	c.552C>T	c.(550-552)atC>atT	p.I184I		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	184	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.P183Q(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CAACCCCGATCGTGGTGGGCA	0.443000														84			33		0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78376586	78376586	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:78376586G>A	uc003kft.3	+	3	394	c.335G>A	c.(334-336)gGg>gAg	p.G112E	BHMT2_uc011cth.2_Intron	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA.	112	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GTAGCAGGGGGGATCTGCCAG	0.453000														97			35		0	0	1	0	0
SWI5	375757	broad.mit.edu	37	9	131038524	131038524	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131038524C>T	uc004bup.3	+	0	100	c.100C>T	c.(100-102)Cct>Tct	p.P34S	GOLGA2_uc011maw.2_5'Flank|GOLGA2_uc010mxw.3_5'Flank|GOLGA2_uc004bul.1_5'Flank|SWI5_uc010mxx.1_Missense_Mutation_p.P34S	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	Homo sapiens SWI5 recombination repair homolog (yeast) (SWI5), mRNA.	34					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										GGCCGGCTTTCCTTGGGTGCG	0.682000														15			12		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121420796	121420796	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121420796G>A	uc001pxx.3	+	15	2309	c.2180_splice	c.e15+1	p.G727_splice		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	727					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GAGAACGAGAGGGTATGTATC	0.502000														57			25		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665972	19665972	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:19665972G>A	uc002wrl.3	+	11	1488	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	431						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						cgaggatgatgatgaagGACC	0.512000														62			31		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415962	105415962	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105415962C>T	uc010axc.1	-	6	5946	c.5826G>A	c.(5824-5826)gtG>gtA	p.V1942V	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.V1842V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1942						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGGGGGCTGTCACTTCCGCCT	0.612000														250			102		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372580	126372580	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126372580G>A	uc003ifj.4	+	8	10409	c.10409G>A	c.(10408-10410)cGa>cAa	p.R3470Q	FAT4_uc011cgp.2_Missense_Mutation_p.R1768Q|FAT4_uc003ifi.1_Missense_Mutation_p.R948Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3470	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAATTAGATCGAGAAACCCTT	0.443000														118			52		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167823624	167823624	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167823624C>T	uc001ger.3	-	17	2573	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K	ADCY10_uc010plj.2_Missense_Mutation_p.E606K|ADCY10_uc009wvk.3_Missense_Mutation_p.E667K|ADCY10_uc009wvl.3_Missense_Mutation_p.E758K	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	759					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTTGTCTTTTCCTCAGACTCC	0.438000														121			39		0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56108789	56108789	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:56108789G>A	uc002rzi.3	-	5	1099	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	EFEMP1_uc002rzj.3_Nonsense_Mutation_p.Q200*|EFEMP1_uc010ypc.2_Nonsense_Mutation_p.Q142*	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	200	EGF-like 2; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGAGGGCACTGACATGCAAAG	0.517000														83			21		0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76957805	76957805	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:76957805C>T	uc001xsr.3	+	7	1174	c.803C>T	c.(802-804)tCc>tTc	p.S268F	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.S268F	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TCAAGCCTCTCCCTGGGGGAC	0.647000														10			3		0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444290	20444290	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20444290C>T	uc010tkx.2	+	0	613	c.613C>T	c.(613-615)Ctt>Ttt	p.L205F		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTCTGTGACCTTCCTCTAGT	0.418000														191			85		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875795	247875795	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247875795C>T	uc001idj.1	-	0	263	c.263G>A	c.(262-264)aGa>aAa	p.R88K		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGTCTGACTTCTCCCCAGTAG	0.478000														79			33		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240637445	240637445	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240637445G>A	uc010pye.2	+	18	5397	c.5172G>A	c.(5170-5172)atG>atA	p.M1724I	FMN2_uc010pyd.2_Missense_Mutation_p.M1720I|FMN2_uc010pyg.2_Missense_Mutation_p.M316I|FMN2_uc001hyr.3_Non-coding_Transcript	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1720					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGATAAGCATGAAAACTTGAA	0.338000														32			7		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221357	161221357	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:161221357C>T	uc011bpb.2	+	3	1061	c.1061C>T	c.(1060-1062)cCt>cTt	p.P354L		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	354	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AAGCCATTTCCTCCTCCTAAC	0.498000														30			15		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848098	215848098	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:215848098C>T	uc001hku.1	-	62	13542	c.13155G>A	c.(13153-13155)aaG>aaA	p.K4385K		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4385	Fibronectin type-III 29.				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)		ATTTAGTAATCTTTCCATTTT	0.478000										HNSCC(13;0.011)				71			7		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139719887	139719887	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:139719887C>T	uc011kqv.2	+	13	1966	c.1731C>T	c.(1729-1731)atC>atT	p.I577I	TBXAS1_uc003vvh.3_Silent_p.I531I|TBXAS1_uc010lne.3_Silent_p.I463I|TBXAS1_uc003vvi.3_Silent_p.I531I|TBXAS1_uc011kqw.2_Silent_p.I511I|TBXAS1_uc003vvj.3_3'UTR	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	530					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					ATATCAAGATCGTATCCCGCT	0.428000														47			19		0	0	1	0	0
HOXD9	3235	broad.mit.edu	37	2	176988257	176988257	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:176988257C>T	uc010zex.2	+	0	845	c.761C>T	c.(760-762)tCg>tTg	p.S254L		NM_014213	NP_055028	P28356	HXD9_HUMAN	Homo sapiens homeobox D9 (HOXD9), mRNA.	254						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CCAGGCTGTTCGCTGAAGGAG	0.627000														14			13		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14567016	14567016	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:14567016G>A	uc021wtn.1	-	3	476	c.476C>T	c.(475-477)aCt>aTt	p.T159I	GRIP2_uc003byu.1_Silent_p.D64D|GRIP2_uc003byv.1_Missense_Mutation_p.T62I	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	62	PDZ 2.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						ACCTGAGATAGTCAGGCCCAG	0.617000														59			27		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825080	74825080	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:74825080C>T	uc021rwl.1	+	0	1594	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C	VRTN_uc001xpw.4_Missense_Mutation_p.R532C	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	532					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						CTTCCGCCTCCGCTACCCCAG	0.647000														148			52		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23379202	23379202	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23379202C>T	uc002dln.3	+	4	978	c.802C>T	c.(802-804)Cac>Tac	p.H268Y		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	268					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CTTCTACCCTCACTATGGCAA	0.527000														132			35		0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72903596	72903596	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:72903596G>A	uc003tyc.3	-	5	1171	c.819C>T	c.(817-819)gtC>gtT	p.V273V		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	273	Mediates the tyrosine-protein kinase activity.				ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	p.V273V(2)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CATCTTCTACGACCCAAGGTG	0.423000														105			24		0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40913356	40913356	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40913356C>T	uc010bbs.1	+	10	1133	c.972C>T	c.(970-972)tcC>tcT	p.S324S	CASC5_uc010ucq.1_Silent_p.S148S|CASC5_uc001zme.3_Silent_p.S298S|CASC5_uc010bbt.1_Silent_p.S298S	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	324	Interaction with BUB1 and BUB1B.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTCCCACATCCAGTGAGACCA	0.363000														64			19		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284752	52284753	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52284752_52284753CC>TT	uc001rzd.3	+	4	1200_1201	c.1022_1023CC>TT	c.(1021-1023)tcc>tTT	p.S341F	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.S216F|ANKRD33_uc001rze.3_Missense_Mutation_p.S237F|ANKRD33_uc001rzg.4_Missense_Mutation_p.S143F|ANKRD33_uc001rzi.4_Missense_Mutation_p.S216F	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	216								p.S341S(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CGAAGCAAGTCCGTGCCAGAGC	0.658000														27			10		0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6741093	6741093	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6741093G>A	uc001aof.2	-	1	183	c.77C>T	c.(76-78)tCt>tTt	p.S26F	DNAJC11_uc001aog.2_Missense_Mutation_p.S26F|DNAJC11_uc010nzu.1_5'UTR	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	26	J.				protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTTCAGAAGAGGCCTAAAG	0.453000														90			10		0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108278674	108278674	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108278674G>A	uc003dxb.4	-	15	2212	c.1943C>T	c.(1942-1944)gCt>gTt	p.A648V		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	648						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGGGCTAGAGCTTTTGTTTC	0.358000														46			15		0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005533	118005533	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:118005533C>T	uc003ibv.4	-	0	1204	c.1017G>A	c.(1015-1017)tcG>tcA	p.S339S		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	339					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TAGAAGATCTCGACCGTTTCT	0.403000														169			81		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14543004	14543004	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:14543004C>T	uc010dln.3	-	0	596	c.142G>A	c.(142-144)Gac>Aac	p.D48N	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	48										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCGTCGTGGTCTCCAGAAGTG	0.587000														299			58		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36036043	36036043	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:36036043G>A	uc003jjz.2	-	6	1461	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	UGT3A2_uc011cos.2_Silent_p.I409I|UGT3A2_uc011cot.2_Silent_p.I141I	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	443						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGGAGCGCAGGATGACACTGG	0.577000														38			11		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488233	24488233	+	Silent	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:24488233T>G	uc003jgr.2	-	11	2412	c.1906A>C	c.(1906-1908)Aga>Cga	p.R636R	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	636					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		TTTCGCTGTCTTTTCAGAGCT	0.393000										HNSCC(23;0.051)				55			24		0	0	1	0	0
C1orf109	54955	broad.mit.edu	37	1	38155359	38155359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:38155359G>A	uc010oig.2	-	1	488	c.383C>T	c.(382-384)gCc>gTc	p.A128V	C1orf109_uc001cbo.3_Missense_Mutation_p.A127V|C1orf109_uc001cbp.3_Missense_Mutation_p.A65V|C1orf109_uc001cbq.1_Missense_Mutation_p.A65V|CDCA8_uc001cbr.3_5'Flank|CDCA8_uc001cbs.3_5'Flank	NM_017850	NP_060320	Q9NX04	CA109_HUMAN	Homo sapiens chromosome 1 open reading frame 109 (C1orf109), mRNA.	65										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				ATCTGGGAAGGCCCGAAGCGC	0.622000														81			41		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38954452	38954452	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38954452G>A	uc002oit.3	+	21	2878	c.2748G>A	c.(2746-2748)gaG>gaA	p.E916E	RYR1_uc002oiu.3_Silent_p.E916E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	916	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAGAGCCTGAGAGGAACTACA	0.622000														95			38		0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22202047	22202047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:22202047G>A	uc003svg.3	-	12	1250	c.937C>T	c.(937-939)Cct>Tct	p.P313S	RAPGEF5_uc011jyl.1_5'UTR	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	163					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCATCTTCAGGTAACCAGTCT	0.348000														59			20		0	0	1	0	0
PEX26	55670	broad.mit.edu	37	22	18562684	18562684	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:18562684C>T	uc002znp.4	+	2	484	c.275C>T	c.(274-276)gCc>gTc	p.A92V	PEX26_uc002znt.3_Missense_Mutation_p.A92V|PEX26_uc002znq.4_Missense_Mutation_p.A92V|Em:AC008101.5_uc002zns.3_5'Flank	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN	Homo sapiens peroxisomal biogenesis factor 26 (PEX26), transcript variant 1, mRNA.	92					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGGATCCAGGCCCTGGCAGAA	0.522000														107			34		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27151188	27151188	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27151188G>A	uc002rhu.4	+	4	824	c.666G>A	c.(664-666)gaG>gaA	p.E222E	DPYSL5_uc002rhv.4_Silent_p.E222E|DPYSL5_uc021vev.1_Silent_p.E222E	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	222					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGTCCAGAGGAGGTGAGAA	0.478000														32			8		0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2718585	2718585	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:2718585G>A	uc003zho.2	+	0	1060	c.846G>A	c.(844-846)gtG>gtA	p.V282V		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	282						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TCAACACCGTGGAGGAGATGC	0.672000														16			3		0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626345	49626345	+	Silent	SNP	C	T	T	rs140916173		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:49626345C>T	uc002xwa.4	-	1	826	c.531G>A	c.(529-531)gcG>gcA	p.A177A	KCNG1_uc002xwb.3_Silent_p.A177A	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	177						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A177V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCACCATCTCCGCGAACTCCT	0.701000														94			22		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99898318	99898318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:99898318C>T	uc001tge.2	-	9	1791	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	ANKS1B_uc001tgf.2_Missense_Mutation_p.M38I|ANKS1B_uc009ztt.1_Missense_Mutation_p.M424I	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	458						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CAGCTGTGTCCATGAGATCAC	0.393000														28			22		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896915	48896915	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:48896915G>A	uc002rwp.2	+	8	3259	c.3145G>A	c.(3145-3147)Gaa>Aaa	p.E1049K	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.E1049K|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.E1002K|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.E345K|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.E311K	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	1002					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGATATTGGTGAAATAATTCA	0.338000														137			58		0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48134543	48134543	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48134543C>T	uc001rpz.4	-	20	2663	c.2113G>A	c.(2113-2115)Gag>Aag	p.E705K	AL831948_uc001rpv.3_Non-coding_Transcript|RAPGEF3_uc001rpw.3_5'UTR|RAPGEF3_uc001rpx.3_Missense_Mutation_p.E120K|RAPGEF3_uc010sln.2_Missense_Mutation_p.E178K|RAPGEF3_uc001rpy.3_Intron|RAPGEF3_uc009zkp.3_Missense_Mutation_p.E663K|RAPGEF3_uc009zkq.3_Missense_Mutation_p.E663K	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	663					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ATGAAGCGCTCCAGGTTGGCG	0.657000														57			18		0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579461	55579461	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55579461G>A	uc001nhw.1	+	0	519	c.519G>A	c.(517-519)gtG>gtA	p.V173V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				GATCTAATGTGATTAACCACT	0.453000														223			80		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168108280	168108280	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:168108280G>A	uc002udx.3	+	8	10467	c.10378G>A	c.(10378-10380)Gat>Aat	p.D3460N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D3285N|XIRP2_uc010fpq.3_Missense_Mutation_p.D3238N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3285					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACCTATGAGGATGTCATTGC	0.398000														44			16		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229235	21229235	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21229235C>T	uc002red.3	-	25	10633	c.10505G>A	c.(10504-10506)gGt>gAt	p.G3502D		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3502	Heparin-binding.				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.G3502C(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)	AAGAACCGAACCCTTGACATC	0.468000														101			47		0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48160882	48160882	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:48160882C>T	uc002xut.3	-	3	535	c.481G>A	c.(481-483)Gag>Aag	p.E161K	PTGIS_uc010zyi.2_Missense_Mutation_p.E22K	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	161					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	AGACCCATCTCGTGCCAGCCA	0.597000														89			25		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18391067	18391067	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:18391067G>A	uc003cbh.3	-	10	3622	c.1887C>T	c.(1885-1887)ccC>ccT	p.P629P	SATB1_uc003cbi.3_Silent_p.P661P|SATB1_uc003cbj.3_Silent_p.P629P	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	629					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						AGGCCACCGTGGGTTGCCGTG	0.607000														44			20		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10769819	10769819	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:10769819C>T	uc002czz.1	-	4	1155	c.1083G>A	c.(1081-1083)gcG>gcA	p.A361A		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	361					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGCTCACCTTCGCCAGCTGCG	0.592000														81			9		0	0	1	0	0
GSTA3	2940	broad.mit.edu	37	6	52761661	52761661	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:52761661C>T	uc003pbb.3	-	6	691	c.612G>A	c.(610-612)agG>agA	p.R204R	GSTA3_uc010jzq.3_Silent_p.R148R	NM_000847	NP_000838	Q16772	GSTA3_HUMAN	Homo sapiens glutathione S-transferase alpha 3 (GSTA3), mRNA.	204	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	CGGGAGGCTTCCTTGGGCTGC	0.473000														111			29		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404312	197404312	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197404312C>T	uc001gtz.3	+	8	3528	c.3319C>T	c.(3319-3321)Ctc>Ttc	p.L1107F	CRB1_uc010poz.2_Missense_Mutation_p.L1083F|CRB1_uc009wza.3_Missense_Mutation_p.L995F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.L588F|CRB1_uc001gub.1_Missense_Mutation_p.L756F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1107	Laminin G-like 3.		L -> P (in LCA8).|L -> R (in LCA8).		cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGGCATTTATCTCTCTTACTT	0.368000														97			28		0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13538855	13538855	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:13538855G>A	uc001imm.2	-	3	623	c.326C>T	c.(325-327)tCa>tTa	p.S109L	BEND7_uc001imo.4_Missense_Mutation_p.S122L	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	161							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						ACAGCAGTTTGATCCAGCTGA	0.378000														54			21		0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159499093	159499093	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:159499093C>T	uc002tzv.3	+	10	2051	c.1791C>T	c.(1789-1791)ctC>ctT	p.L597L	PKP4_uc002tzt.1_Silent_p.L449L|PKP4_uc002tzu.3_Silent_p.L597L|PKP4_uc002tzw.3_Silent_p.L597L|PKP4_uc002tzx.3_Silent_p.L254L|PKP4_uc002tzy.1_Silent_p.L255L|PKP4_uc002tzz.1_Silent_p.L595L|PKP4_uc002uaa.3_Silent_p.L449L	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	597					cell adhesion	desmosome	protein binding	p.L597F(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTCGAAACCTCGTTTTTGGCA	0.433000										HNSCC(62;0.18)				106			25		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106924104	106924104	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106924104C>T	uc001kyi.1	+	11	2003	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	592						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTGGTGTGTTCATCTCCTCCG	0.438000														49			24		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98039469	98039469	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:98039469C>T	uc001drv.3	-	10	1323	c.1186G>A	c.(1186-1188)Gtt>Att	p.V396I		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	396					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTTACTATAACCTTCCGTGGG	0.388000														74			24		0	0	1	0	0
ZNF579	163033	broad.mit.edu	37	19	56090169	56090169	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56090169G>A	uc002qlh.3	-	1	890	c.837C>T	c.(835-837)ttC>ttT	p.F279F	ZNF579_uc021vby.1_Silent_p.F279F	NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	Homo sapiens zinc finger protein 579 (ZNF579), mRNA.	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		AGGGCCTGGCGAAGGCCTTGA	0.721000														27			10		0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144408461	144408461	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144408461G>A	uc003yxz.3	-	3	433	c.414C>T	c.(412-414)ttC>ttT	p.F138F	TOP1MT_uc011lkd.2_Silent_p.F40F|TOP1MT_uc011lke.2_Silent_p.F40F|TOP1MT_uc011lkf.2_5'Flank|TOP1MT_uc010mfd.1_5'UTR	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	138					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GGATCTCCGTGAAGTCACACT	0.557000														103			62		0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27528597	27528597	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:27528597G>A	uc003xga.1	+	5	1691	c.1550G>A	c.(1549-1551)gGg>gAg	p.G517E	SCARA3_uc003xgb.1_Intron	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	517					UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GGCCCTCGAGGGTTCCCAGGC	0.687000														20			5		0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30864450	30864450	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30864450C>T	uc003nrv.3	+	11	1719	c.1677C>T	c.(1675-1677)ccC>ccT	p.P559P	DDR1_uc010jse.3_Silent_p.P522P|DDR1_uc003nrq.3_Silent_p.P522P|DDR1_uc003nrr.3_Silent_p.P559P|DDR1_uc003nrs.3_Silent_p.P559P|DDR1_uc003nrt.3_Silent_p.P522P|DDR1_uc011dms.2_Silent_p.P540P|DDR1_uc003nru.3_Silent_p.P522P|DDR1_uc003nry.2_Intron|DDR1_uc003nrx.2_Intron|DDR1_uc003nrw.1_Intron	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	559	Gly/Pro-rich.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGCTTCTGCCCCCACCTCCCC	0.632000														68			34		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106963149	106963149	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106963149C>T	uc021ser.1	-	268		c.10581G>A								Parts of antibodies, mostly variable regions.																		AAGGTGTATCCGGAAGCCTTG	0.572000														101			53		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48797262	48797262	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:48797262G>A	uc001zwx.2	-	15	2315	c.1920C>T	c.(1918-1920)ttC>ttT	p.F640F		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	640	EGF-like 10; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCAGTCCAGGGAAGCATTCAC	0.502000														132			50		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49000670	49000670	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49000670C>T	uc002pjk.3	-	11	3743	c.3743G>A	c.(3742-3744)gGg>gAg	p.G1248E		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTCGCTGTTCCCCTGAGGGGG	0.652000														50			22		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40935959	40935959	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:40935959C>T	uc002ibj.3	+	2	864	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	WNK4_uc010wgx.2_5'UTR|WNK4_uc002ibk.1_Silent_p.L38L|WNK4_uc010wgy.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	266	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCCAGGTACCTGAGGCGGTT	0.672000														18			5		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62330131	62330131	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62330131G>A	uc001dab.3	+	19	2775	c.2661G>A	c.(2659-2661)gaG>gaA	p.E887E	INADL_uc009waf.1_Silent_p.E887E|INADL_uc001daa.2_Silent_p.E887E|INADL_uc001dad.3_Silent_p.E584E|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	887					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CATCCATGGAGTTGTATCCCT	0.418000														89			29		0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	50008373	50008373	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:50008373G>A	uc002itv.4	-	3	1010	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	CA10_uc002itw.4_Missense_Mutation_p.R86C|CA10_uc002itx.4_Missense_Mutation_p.R86C|CA10_uc002ity.4_Missense_Mutation_p.R86C|CA10_uc002itz.2_Missense_Mutation_p.R86C	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	86					brain development			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GTGTTGATGCGAAGAGGTGTC	0.502000														203			68		0	0	1	0	0
PION	54103	broad.mit.edu	37	7	77006657	77006657	+	Silent	SNP	G	A	A	rs138204887	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:77006657G>A	uc003ugf.3	-	8	706	c.627C>T	c.(625-627)ttC>ttT	p.F209F	PION_uc003ugg.1_5'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	209					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGCCCAAACGAAATCCTCAG	0.303000														244			31		0	0	1	0	0
KRT19P2	160313	broad.mit.edu	37	12	95228202	95228202	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:95228202G>A	uc001tdk.2	+	0		c.29G>A								Homo sapiens keratin 19 pseudogene 2 (KRT19P2), non-coding RNA.																		CAGGACCATCGAGGACCTGCG	0.552000														41			12		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025627	16025627	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16025627G>A	uc002nbu.2	-	9	1230	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	CYP4F11_uc010eab.1_Silent_p.I398I|CYP4F11_uc002nbt.2_Silent_p.I398I	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	398					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AACATCGGGAGATGACCGGGA	0.627000														126			21		0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72399970	72399970	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:72399970C>T	uc010iic.3	+	17	2424	c.2307C>T	c.(2305-2307)ttC>ttT	p.F769F	SLC4A4_uc003hfy.3_Silent_p.F769F|SLC4A4_uc010iib.3_Silent_p.F769F|SLC4A4_uc003hfz.3_Silent_p.F769F|SLC4A4_uc003hgc.4_Silent_p.F725F|SLC4A4_uc010iid.3_5'UTR	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	769	Interaction with CA4.					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.F725F(2)|p.F769F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GAGGTTGGTTCGTTCCACCGT	0.423000														47			19		0	0	1	0	0
HOXB13	10481	broad.mit.edu	37	17	46805604	46805604	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:46805604C>T	uc002ioa.3	-	0	508	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	118					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GGGTACTCTTCCCCGGCCGTG	0.652000														99			51		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573509	140573509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140573509G>A	uc003lix.3	+	0	1558	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	462	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.R461C(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGTCCGCGAGAACAACAG	0.627000														185			65		0	0	1	0	0
RARRES3	5920	broad.mit.edu	37	11	63313725	63313725	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63313725C>T	uc001nxf.4	+	3	560	c.492C>T	c.(490-492)gcC>gcT	p.A164A		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 3 (RARRES3), mRNA.	164					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						AAGCGACAGCCTGAAGCAGCC	0.547000														100			44		0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52439273	52439273	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52439273G>A	uc003ddx.3	-	10	1084	c.969C>T	c.(967-969)gcC>gcT	p.A323A	BAP1_uc003ddw.3_5'Flank|BAP1_uc010hmg.3_5'Flank|BAP1_uc010hmh.3_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	323					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.A323fs*71(2)|p.P324fs*7(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TGTGGGATGGGGCTTGTGCGC	0.592000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""								136			59		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581366	140581366	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140581366C>T	uc003liy.3	+	0	2019	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	673					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)			ACCTGCCGCTCCCTGAGGCGG	0.682000														144			41		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6167147	6167147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6167147C>T	uc001qnn.1	-	13	1847	c.1597G>A	c.(1597-1599)Gac>Aac	p.D533N	VWF_uc010set.1_Missense_Mutation_p.D533N	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	533	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	p.D533D(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGAAGTCGTCGCCCTGGTTG	0.662000														86			34		0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233323688	233323688	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233323688G>A	uc002vst.4	+	10	1496	c.1419G>A	c.(1417-1419)gaG>gaA	p.E473E	ALPI_uc002vsu.4_Silent_p.E384E	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	473					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GTGTGCAGGAGCAGAGCTTCG	0.711000														14			6		0	0	1	0	0
SPATA22	84690	broad.mit.edu	37	17	3346535	3346535	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3346535G>A	uc002fvm.3	-	7	1071	c.833C>T	c.(832-834)cCa>cTa	p.P278L	SPATA22_uc010vrg.2_Missense_Mutation_p.P262L|SPATA22_uc010vrf.2_Intron|SPATA22_uc002fvo.3_Missense_Mutation_p.P278L|SPATA22_uc002fvn.3_Missense_Mutation_p.P278L|SPATA22_uc002fvp.3_Missense_Mutation_p.P278L|SPATA22_uc010ckf.3_Missense_Mutation_p.P235L	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	Homo sapiens spermatogenesis associated 22 (SPATA22), transcript variant 2, mRNA.	278										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						CGAATAATATGGGCCAGGTGT	0.353000														25			14		0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79629673	79629673	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:79629673C>T	uc003ybd.3	+	8	1025	c.923C>T	c.(922-924)cCt>cTt	p.P308L		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	Homo sapiens family with sequence similarity 164, member A (FAM164A), mRNA.	308																	ACTAAATACCCTGTAGAATGG	0.368000														132			59		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142231686	142231686	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:142231686G>A	uc003ywd.1	-	1	575	c.267C>T	c.(265-267)ggC>ggT	p.G89G	SLC45A4_uc003ywc.1_Silent_p.G89G|SLC45A4_uc010meq.1_Silent_p.G87G	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	140					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGATGGCAGAGCCGTTAAGGA	0.607000														65			20		0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34400213	34400213	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:34400213G>A	uc010qej.2	-	24	4285	c.3955C>T	c.(3955-3957)Ccc>Tcc	p.P1319S	PARD3_uc010qep.2_Missense_Mutation_p.P1229S|PARD3_uc010qeq.2_Missense_Mutation_p.P1207S|PARD3_uc010qek.2_Missense_Mutation_p.P1316S|PARD3_uc010qel.2_Missense_Mutation_p.P1282S|PARD3_uc010qem.2_Missense_Mutation_p.P1303S|PARD3_uc010qen.2_Missense_Mutation_p.P1273S|PARD3_uc010qeo.2_Missense_Mutation_p.P1236S	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	1319					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.D1318E(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCGTAACTGGGGTCCTGGACT	0.597000														61			15		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240871	3240871	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:3240871G>A	uc004crg.4	-	4	3012	c.2855C>T	c.(2854-2856)tCa>tTa	p.S952L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	952						extracellular region		p.S951L(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)				GGGCTCTGGTGACGATCCAAC	0.507000														28			17		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73474369	73474369	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:73474369G>A	uc003tzw.3	+	22	1677	c.1586G>A	c.(1585-1587)gGa>gAa	p.G529E	ELN_uc003tzn.3_Missense_Mutation_p.G523E|ELN_uc003tzy.3_Missense_Mutation_p.G499E|ELN_uc003tzz.3_Missense_Mutation_p.G442E|ELN_uc003tzo.3_Missense_Mutation_p.G490E|ELN_uc003tzp.3_Missense_Mutation_p.G434E|ELN_uc003tzq.3_Missense_Mutation_p.G387E|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Missense_Mutation_p.G504E|ELN_uc003tzt.3_Missense_Mutation_p.G528E|ELN_uc003tzu.3_Missense_Mutation_p.G509E|ELN_uc003tzv.3_Missense_Mutation_p.G494E|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G513E|ELN_uc011kff.2_Missense_Mutation_p.G523E	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	552	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGCCCTGGTGGAGTTGCAGGT	0.642000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							113			10		0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434244	72434244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:72434244C>T	uc004ebi.3	-	0	467	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	29					nucleosome assembly	chromatin assembly complex		p.G28R(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCCAGATGTTCCCCGAGCCCT	0.562000														21			26		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121503	38121503	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38121503C>T	uc003atr.3	+	6	3211	c.2940C>T	c.(2938-2940)tcC>tcT	p.S980S	TRIOBP_uc003atu.3_Silent_p.S808S|TRIOBP_uc003atq.1_Silent_p.S980S|TRIOBP_uc003ats.1_Silent_p.S808S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	980					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCTCTTCCTCCCATAACCCAG	0.642000														232			82		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111195390	111195390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:111195390C>T	uc004epl.1	-	1	1178	c.259G>A	c.(259-261)Gag>Aag	p.E87K	TRPC5_uc004epm.1_Missense_Mutation_p.E87K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	87					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCAGTAGCTCCATGATCTCC	0.537000														28			72		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41038970	41038970	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41038970C>T	uc003jmj.4	-	20	2572	c.2082G>A	c.(2080-2082)aaG>aaA	p.K694K	HEATR7B2_uc003jmi.4_Silent_p.K249K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	694							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						TGGTCAGGCTCTTTTTCCCAG	0.433000														66			24		0	0	1	0	0
C17orf28	283987	broad.mit.edu	37	17	72952047	72952047	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72952047G>A	uc002jmj.4	-	12	1625	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	C17orf28_uc002jmi.3_5'Flank|C17orf28_uc010wrs.2_Silent_p.S291S	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	492						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					TGAGGTAGGGGGACACTGTAA	0.617000														102			7		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21186092	21186092	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:21186092C>T	uc001iqi.3	-	0	440	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	15					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						atcttttcttcttcagtttca	0.333000														25			8		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121414362	121414362	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121414362C>T	uc001pxx.3	+	12	1920	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	597					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.V596I(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCACTGTCTTCACCATCTTTG	0.512000														106			47		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108138014	108138014	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:108138014C>T	uc001pkb.1	+	16	2968	c.2583C>T	c.(2581-2583)taC>taT	p.Y861Y	ATM_uc009yxr.1_Silent_p.Y861Y|ATM_uc009yxs.1_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	861					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTAACGATTACCCTGATAGTA	0.368000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				66			22		0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44108899	44108899	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:44108899G>A	uc002ikc.3	-	14	3732	c.3261C>T	c.(3259-3261)ccC>ccT	p.P1087P	KANSL1_uc002ikd.3_Silent_p.P1087P|KANSL1_uc010dav.3_Silent_p.P1086P|KANSL1_uc010wkb.2_Silent_p.P418P|KANSL1_uc010wkc.2_Silent_p.P355P	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	1087						MLL1 complex	protein binding										GACTCTTGAGGGGGACAATGG	0.617000														19			9		0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142779665	142779665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:142779665G>A	uc003lnd.3	-	1	1734	c.740C>T	c.(739-741)cCt>cTt	p.P247L	NR3C1_uc003lmy.3_Missense_Mutation_p.P247L|NR3C1_uc003lmz.3_5'UTR|NR3C1_uc003lna.3_Missense_Mutation_p.P247L|NR3C1_uc003lnb.3_Missense_Mutation_p.P247L|NR3C1_uc011dbk.2_Intron|NR3C1_uc003lnf.3_Missense_Mutation_p.P247L|NR3C1_uc003lne.3_Missense_Mutation_p.P247L|NR3C1_uc003lnc.3_Missense_Mutation_p.P247L|NR3C1_uc021yfa.1_Missense_Mutation_p.P247L|NR3C1_uc021yfb.1_Missense_Mutation_p.P247L|NR3C1_uc003lng.2_Missense_Mutation_p.P247L|NR3C1_uc003lni.2_Missense_Mutation_p.P247L	NM_001018077	NP_001191193	P04150	GCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA.	247	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TAAAATGAGAGGCTTGCAGTC	0.423000														137			59		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18788653	18788653	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:18788653G>A	uc003sui.3	+	12	1976	c.1935G>A	c.(1933-1935)ctG>ctA	p.L645L	HDAC9_uc003sue.3_Silent_p.L642L|HDAC9_uc011jyd.2_Silent_p.L642L|HDAC9_uc003suh.3_Silent_p.L642L|HDAC9_uc003suj.3_Silent_p.L601L|HDAC9_uc003sua.1_Silent_p.L620L|HDAC9_uc010kue.1_Silent_p.L297L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	642	Histone deacetylase.			HQCV -> KPNS (in Ref. 8; AAF04254).	B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTTGATGCTGAAACACCAGT	0.438000														22			11		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33154504	33154504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33154504C>T	uc003ocx.1	-	4	926	c.698G>A	c.(697-699)aGg>aAg	p.R233K	COL11A2_uc003ocy.1_Missense_Mutation_p.R233K|COL11A2_uc003ocz.1_Missense_Mutation_p.R233K|COL11A2_uc003oda.3_Missense_Mutation_p.R233K	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	233	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGTCTTTCCCTCTGGCCCCC	0.562000														102			48		0	0	1	0	0
IL26	55801	broad.mit.edu	37	12	68619245	68619245	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:68619245C>T	uc001stx.1	-	1	242	c.207G>A	c.(205-207)aaG>aaA	p.K69K		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Homo sapiens interleukin 26 (IL26), mRNA.	69					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of cytokine secretion|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTTTTGTTTTCTTTTTTAATA	0.279000														36			9		0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14284333	14284333	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:14284333G>A	uc001mle.3	+	15	2337	c.2069G>A	c.(2068-2070)cGa>cAa	p.R690Q		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	691	TSP type-1 5.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	p.R690*(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CACGTGATTCGAACCCGGATG	0.537000														27			4		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210970944	210970944	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:210970944G>A	uc001hib.2	-	8	1991	c.1821C>T	c.(1819-1821)ctC>ctT	p.L607L	KCNH1_uc001hic.2_Silent_p.L580L	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	607					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CATGGTAGATGAGGTCCCCTG	0.602000														77			43		0	0	1	0	0
AK302879	0	broad.mit.edu	37	15	76073015	76073015	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:76073015G>A	uc010umm.1	+	4	404	c.327G>A	c.(325-327)atG>atA	p.M109I	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		AAGCACAGATGGAGCAGTTAG	0.473000														123			16		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7563999	7563999	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7563999G>A	uc003mxp.1	+	5	1036	c.757G>A	c.(757-759)Gag>Aag	p.E253K	DSP_uc003mxq.1_Missense_Mutation_p.E253K|DSP_uc021yle.1_Missense_Mutation_p.E253K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	253	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		CCAGTTGGAGGAGGAGTATGA	0.398000														73			25		0	0	1	0	0
SLC39A1	27173	broad.mit.edu	37	1	153932928	153932929	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153932928_153932929GG>AA	uc001fdl.3	-	4	1086_1087	c.620_621CC>TT	c.(619-621)gcc>gTT	p.A207V	CRTC2_uc021pab.1_5'Flank|SLC39A1_uc001fdi.3_Missense_Mutation_p.A207V|SLC39A1_uc001fdj.3_Missense_Mutation_p.A207V|SLC39A1_uc001fdk.3_Missense_Mutation_p.A207V|SLC39A1_uc010pee.2_Missense_Mutation_p.A105V	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA.	207						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		ACAGCTCCATGGCCCGAGCCCG	0.663000														35			16		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705246	30705246	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:30705246C>T	uc003xil.3	-	0	1288	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	430										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GACACTGGTTCATTTTCATTT	0.338000														157			43		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75276414	75276414	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75276414C>T	uc001xqj.4	+	6	4977	c.4853C>T	c.(4852-4854)cCc>cTc	p.P1618L	YLPM1_uc001xql.4_Non-coding_Transcript|YLPM1_uc001xqm.1_Missense_Mutation_p.P101L	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCTTCCATTCCCCCTCCTGGC	0.483000														55			11		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71135091	71135091	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:71135091G>A	uc003tvy.3	+	7	1401	c.1401G>A	c.(1399-1401)ggG>ggA	p.G467G	WBSCR17_uc003tvz.3_Silent_p.G166G	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	467	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TTGCTTACGGGGAGGTAATTC	0.418000														179			75		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72023549	72023549	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72023549G>A	uc002atb.1	+	8	1702	c.1623G>A	c.(1621-1623)agG>agA	p.R541R	THSD4_uc002atd.1_3'UTR|THSD4_uc010ukg.1_Silent_p.R181R|THSD4_uc002ate.2_Silent_p.R181R	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	541						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CACCCCACAGGAGACCAGGTA	0.557000											OREG0023247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		76			20		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154860085	154860085	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:154860085G>A	uc010hvr.1	+	11	1365	c.1154G>A	c.(1153-1155)cGa>cAa	p.R385Q	MME_uc003fab.1_Missense_Mutation_p.R385Q|MME_uc003fac.1_Missense_Mutation_p.R385Q|MME_uc003fad.1_Missense_Mutation_p.R385Q|MME_uc003fae.1_Missense_Mutation_p.R385Q	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	385					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R385Q(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AGCCTCAGCCGAACCTACAAG	0.383000														108			11		0	0	1	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283670	151283670	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151283670C>T	uc004ffj.3	-	2	515	c.343G>A	c.(343-345)Gac>Aac	p.D115N	MAGEA5_uc022cgy.1_Missense_Mutation_p.D115N	NM_021049	NP_066387	P43359	MAGA5_HUMAN	Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.	115	MAGE.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Acute lymphoblastic leukemia(192;6.56e-05)					TGAATCAAGTCAGCCACCTTC	0.502000														66			10		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184103898	184103898	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:184103898C>T	uc003fov.3	+	14	2129	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F	CHRD_uc003fow.3_Missense_Mutation_p.S258F|CHRD_uc003fox.3_Missense_Mutation_p.S628F|CHRD_uc003foy.3_Missense_Mutation_p.S258F|CHRD_uc010hyc.3_Missense_Mutation_p.S218F|CHRD_uc011brr.2_Missense_Mutation_p.S258F	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	628	CHRD 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCATGGCCTCCCTGATGATC	0.622000														76			29		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21120193	21120193	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:21120193C>T	uc001iqi.3	-	15	2000	c.1603G>A	c.(1603-1605)Gga>Aga	p.G535R	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	535					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACTTGCATTCCTTTCCCTTTA	0.368000														74			6		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440697	40440697	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:40440697C>T	uc003gvc.2	-	3	924	c.214G>A	c.(214-216)Gag>Aag	p.E72K	RBM47_uc003gvd.2_Missense_Mutation_p.E72K|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.E34K|RBM47_uc003gvg.1_Missense_Mutation_p.E72K	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	72	RRM 1.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ACGAAGACCTCGCAGCCACGC	0.692000														30			11		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7528297	7528297	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7528297G>A	uc010sge.2	-	10	2742	c.2716_splice	c.e10+1	p.R906_splice	CD163L1_uc001qsy.3_Splice_Site_p.R896_splice	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	896	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAATCTCACGGGAACAGACAA	0.463000														67			22		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104174892	104174892	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104174892G>A	uc001kvg.1	-	3	1379	c.852C>T	c.(850-852)tcC>tcT	p.S284S	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Silent_p.S284S	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	284					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGTCTGTCTCGGAGTACTTGG	0.662000														45			16		0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184175043	184175043	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:184175043C>T	uc010irx.3	+	8	1269	c.1087C>T	c.(1087-1089)Cca>Tca	p.P363S	WWC2_uc003ivk.4_Missense_Mutation_p.P158S|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.P45S	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	363										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GTTCGTCACCCCACAGAAACG	0.483000														24			4		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43778950	43778950	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:43778950G>A	uc002rsw.4	-	18	3277	c.2925C>T	c.(2923-2925)ctC>ctT	p.L975L	THADA_uc010far.3_Silent_p.L244L|THADA_uc002rsx.4_Silent_p.L975L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Silent_p.L684L|THADA_uc010fat.1_Silent_p.L122L|THADA_uc002rta.2_Silent_p.L685L	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	975							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CCATTGGGATGAGGCCTTCAG	0.468000														57			12		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102480727	102480727	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102480727C>T	uc001phc.3	-	3	571	c.558G>A	c.(556-558)cgG>cgA	p.R186R		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	186					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CTAGAGTCCCCCGAGGCCCAT	0.493000														45			17		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21795948	21795948	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21795948G>A	uc001wag.3	+	16	2877	c.2877G>A	c.(2875-2877)aaG>aaA	p.K959K	RPGRIP1_uc001wah.3_Silent_p.K601K|RPGRIP1_uc001wai.3_Silent_p.K285K|RPGRIP1_uc001wak.3_Silent_p.K434K|RPGRIP1_uc010aim.3_Silent_p.K342K|RPGRIP1_uc001wal.3_Silent_p.K318K|RPGRIP1_uc001wam.3_Silent_p.K276K	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	959	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AAGAGGAAAAGGCTTCATTTC	0.463000														26			4		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97051876	97051876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:97051876G>A	uc021rcc.1	+	3	670	c.592G>A	c.(592-594)Gtt>Att	p.V198I				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	198										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GTTCAATACAGTTTCACAGTA	0.294000														52			17		0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15843464	15843464	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:15843464C>T	uc002wou.3	+	8	984	c.720C>T	c.(718-720)ttC>ttT	p.F240F	MACROD2_uc002wot.3_Silent_p.F240F|MACROD2_uc002woz.3_Silent_p.F5F|MACROD2_uc002wpb.3_Silent_p.F5F	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	240	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ATGAGTTTTTCTCCGTAGGTG	0.363000														33			9		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135003268	135003268	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:135003268C>T	uc001llz.1	+	8	1527	c.1526C>T	c.(1525-1527)tCg>tTg	p.S509L	KNDC1_uc001lma.1_Missense_Mutation_p.S444L	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	509	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCCTATGACTCGTTCTTTCTG	0.642000														32			14		0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64084892	64084892	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:64084892G>A	uc003dmf.3	-	7	2956	c.2370C>T	c.(2368-2370)ttC>ttT	p.F790F		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	790						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTTCTCCTAGGAAATAGCCCT	0.567000														64			22		0	0	1	0	0
NTF3	4908	broad.mit.edu	37	12	5603770	5603770	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:5603770G>A	uc001qnl.4	+	0	473	c.390G>A	c.(388-390)gcG>gcA	p.A130A	NTF3_uc001qnk.4_Silent_p.A143A	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	130					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CCGTGGTGGCGAACAGAACAT	0.602000														82			20		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121996	38121996	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38121996G>A	uc003atr.3	+	6	3704	c.3433G>A	c.(3433-3435)Gag>Aag	p.E1145K	TRIOBP_uc003atu.3_Missense_Mutation_p.E973K|TRIOBP_uc003atq.1_Missense_Mutation_p.E1145K|TRIOBP_uc003ats.1_Missense_Mutation_p.E973K	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1145					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGCCAGCACAGAGAGCCTTGT	0.642000														128			45		0	0	1	0	0
CTAG2	30848	broad.mit.edu	37	X	153880692	153880692	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:153880692C>T	uc004fmi.2	-	1	547	c.483G>A	c.(481-483)gaG>gaA	p.E161E	CTAG2_uc004fmh.2_Intron	NM_020994	NP_066274	O75638	CTAG2_HUMAN	Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.	161						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTTCTGCCCCTCCGGGGAGG	0.627000														48			49		0	0	1	0	0
FAM55D	54827	broad.mit.edu	37	11	114451014	114451014	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:114451014G>A	uc001ppc.3	-	4	1120	c.939C>T	c.(937-939)tcC>tcT	p.S313S	FAM55D_uc001ppd.3_Silent_p.S29S	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	313						extracellular region		p.T312S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TGGGGATTGTGGATGTCATTC	0.413000														94			29		0	0	1	0	0
TNNI2	7136	broad.mit.edu	37	11	1862398	1862398	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1862398G>A	uc021qbv.1	+	5	436	c.414G>A	c.(412-414)agG>agA	p.R138R	TNNI2_uc021qbt.1_Silent_p.R117R|TNNI2_uc021qbu.1_Silent_p.R117R|TNNI2_uc010qxe.1_Silent_p.R138R	NM_003282	NP_003273	P48788	TNNI2_HUMAN	Homo sapiens troponin I type 2 (skeletal, fast) (TNNI2), transcript variant 1, mRNA.	138					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGACCTGAGGGCCAACCTGA	0.647000														29			19		0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	97006991	97006991	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:97006991G>A	uc001kkh.3	-	4	775	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	222					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CAGACTCCAGGATTTCCTGCA	0.453000														94			49		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57290806	57290806	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57290806G>A	uc002qnr.2	-	9	1063	c.681C>T	c.(679-681)cgC>cgT	p.R227R	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Silent_p.R23R|PEG3_uc010ygq.1_Silent_p.R23R|PEG3_uc010etp.2_Silent_p.R227R|PEG3_uc010ygs.1_Silent_p.R227R|PEG3_uc002qnq.2_Silent_p.R227R	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	384					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTCTTCCAGGCGTGAGATAA	0.507000														97			32		0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3834887	3834887	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3834887G>A	uc002lyw.2	-	1	160	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	50						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GCAGCTGGGGGAAAGGCCGGG	0.697000														14			8		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92470044	92470044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:92470044C>T	uc001dol.4	+	17	2880	c.2462C>T	c.(2461-2463)tCc>tTc	p.S821F	BRDT_uc010osz.2_Missense_Mutation_p.S825F|BRDT_uc001dok.4_Missense_Mutation_p.S821F|BRDT_uc009wdf.3_Missense_Mutation_p.S748F|BRDT_uc010otb.2_Missense_Mutation_p.S775F|BRDT_uc010ota.2_Missense_Mutation_p.S775F|BRDT_uc001dom.4_Missense_Mutation_p.S821F	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.S821S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTAATGAAATCCTCAGATGAG	0.358000														104			43		0	0	1	0	0
LYZL2	119180	broad.mit.edu	37	10	30918621	30918621	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:30918621G>C	uc001ivk.3	-	0	27	c.14C>G	c.(13-15)cCc>cGc	p.P5R		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	Homo sapiens lysozyme-like 2 (LYZL2), mRNA.	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				GCAGCTCAGGGGAGCGTCCTG	0.502000														44			8		0	0	1	0	0
TEX26	122046	broad.mit.edu	37	13	31531050	31531050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:31531050G>A	uc001uti.3	+	3	372	c.353G>A	c.(352-354)gGg>gAg	p.G118E		NM_152325	NP_689538	Q8N6G2	CM026_HUMAN	Homo sapiens chromosome 13 open reading frame 26 (C13orf26), mRNA.	118																	CAACAAACGGGGACACTAAAG	0.388000														85			27		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183521816	183521816	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183521816C>T	uc003fly.2	+	26	3819	c.3624C>T	c.(3622-3624)atC>atT	p.I1208I	AX746590_uc003fma.1_3'UTR	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	1208					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TACAAGAAATCCTGGAGAAGA	0.443000														92			56		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307866	46307866	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46307866C>T	uc002pdm.3	-	2	1468	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	RSPH6A_uc002pdl.3_Missense_Mutation_p.E169K	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	433						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						AGGCCCGGCTCGTTGCACACA	0.617000														55			20		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31864577	31864577	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:31864577G>A	uc003tcm.2	-	12	1771	c.1310C>T	c.(1309-1311)cCc>cTc	p.P437L	PDE1C_uc003tcn.1_Missense_Mutation_p.P437L|PDE1C_uc003tco.2_Missense_Mutation_p.P497L|PDE1C_uc003tcr.3_Missense_Mutation_p.P437L|PDE1C_uc003tcs.3_Missense_Mutation_p.P437L	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	437	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGTGAAGGTGGGTTCCACGAT	0.458000														113			13		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141128790	141128790	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141128790C>T	uc002tvj.1	-	69	11805	c.10833G>A	c.(10831-10833)ttG>ttA	p.L3611L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3611	LDL-receptor class A 28.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTACATTTCAAAGATGCTG	0.303000										TSP Lung(27;0.18)				33			15		0	0	1	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67201482	67201482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67201482C>T	uc001old.3	+	10	1005	c.923C>T	c.(922-924)cCc>cTc	p.P308L	RPS6KB2_uc021qmi.1_Missense_Mutation_p.P31L	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 2 (RPS6KB2), mRNA.	308	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AAACGGAATCCCAGCCAGCGG	0.642000														53			7		0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092793	151092793	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151092793G>A	uc022cgv.1	+	0	657	c.657G>A	c.(655-657)gaG>gaA	p.E219E	MAGEA4_uc004fez.3_Silent_p.E219E|MAGEA4_uc004ffa.3_Silent_p.E219E|MAGEA4_uc004ffb.3_Silent_p.E219E|MAGEA4_uc022cgu.1_Silent_p.E247E|MAGEA4_uc004ffc.3_Silent_p.E219E|MAGEA4_uc004ffd.3_Silent_p.E219E	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	219	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCGCCTCTGAGGAGGAAATCT	0.552000														53			57		0	0	1	0	0
C4orf33	132321	broad.mit.edu	37	4	130023819	130023819	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:130023819C>T	uc003igu.4	+	1	418	c.54C>T	c.(52-54)ccC>ccT	p.P18P	C4orf33_uc010ioc.1_Silent_p.P18P|C4orf33_uc010iod.3_Silent_p.P18P	NM_173487	NP_775758	Q8N1A6	CD033_HUMAN	Homo sapiens chromosome 4 open reading frame 33 (C4orf33), transcript variant 1, mRNA.	18										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						AGCATGAGCCCGTATTTATCA	0.403000														78			27		0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19317917	19317917	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:19317917C>T	uc010vyw.2	+	8	1183	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Missense_Mutation_p.R201C	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	318							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CCTCTTAGTTCGTGACTCATC	0.597000														26			19		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161214670	161214670	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:161214670C>T	uc011bpb.2	+	0	75	c.75C>T	c.(73-75)acC>acT	p.T25T		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	25						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TAGCAAAGACCACACCACATA	0.393000														14			7		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11631189	11631189	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11631189G>A	uc002gne.3	+	27	5832	c.5764G>A	c.(5764-5766)Gat>Aat	p.D1922N	DNAH9_uc010coo.3_Missense_Mutation_p.D1216N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1922	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGCTGCTTTGATGAGTTTAA	0.488000														23			21		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579609	140579609	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140579609G>A	uc003liy.3	+	0	262	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	88	Cadherin 1.				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)			GCTCTTAAGTGAAACACTAGA	0.493000														96			49		0	0	1	0	0
FAHD2B	151313	broad.mit.edu	37	2	97757237	97757237	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:97757237G>A	uc002sxm.3	-	1	358	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 2B (FAHD2B), mRNA.	69							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						CCTGCTCTAGGAACTGCGTCA	0.607000														55			17		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271920	22271920	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22271920G>A	uc010ecx.3	+	3	1537	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E	ZNF257_uc010ecy.3_Silent_p.E424E	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATACTGGAGAGAAACCCTACA	0.393000														55			24		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597494	136597494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:136597494C>T	uc003qgx.1	-	4	1422	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	BCLAF1_uc003qgy.1_Missense_Mutation_p.G388E|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.G388E|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	390					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTTTTGTTTTCCAGACTCTTT	0.423000														560			56		0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77910348	77910348	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:77910348C>T	uc002ffg.1	+	4	901	c.804C>T	c.(802-804)ccC>ccT	p.P268P		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	268							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						TTCTCAAACCCCTGGGAACCT	0.473000														109			23		0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9864374	9864374	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:9864374C>T	uc004csu.1	+	3	2516	c.2426C>T	c.(2425-2427)cCc>cTc	p.P809L		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	809					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)				AAACCTGTTCCCCAGAGGCCT	0.602000														13			31		0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53205055	53205055	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:53205055C>T	uc002xwy.3	+	2	428	c.208C>T	c.(208-210)Cga>Tga	p.R70*		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	70	PH.						insulin receptor binding	p.R70G(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GAACGTAGCTCGATTGCCAAA	0.408000														133			59		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78547308	78547309	+	Missense_Mutation	DNP	AG	CA	CA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:78547308_78547309AG>CA	uc004akc.2	+	1	744_745	c.206_207AG>CA	c.(205-207)aag>aCA	p.K69T	PCSK5_uc004ajy.2_Missense_Mutation_p.K69T|PCSK5_uc004ajz.3_Missense_Mutation_p.K69T|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	69					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGGGCCCTGAAGGACTACTACC	0.406000														45			22		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58111395	58111395	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58111395C>T	uc003djj.2	+	22	4151	c.3986C>T	c.(3985-3987)tCt>tTt	p.S1329F	FLNB_uc010hne.2_Missense_Mutation_p.S1329F|FLNB_uc003djk.2_Missense_Mutation_p.S1329F|FLNB_uc010hnf.2_Missense_Mutation_p.S1329F|FLNB_uc003djl.2_Missense_Mutation_p.S1160F|FLNB_uc003djm.2_Missense_Mutation_p.S1160F	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1329	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.S1329Y(3)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGCCAGCCATCTAGGGTGCAA	0.517000														90			29		0	0	1	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975941	32975941	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32975941C>T	uc003ocr.3	-	1	256	c.180G>A	c.(178-180)gtG>gtA	p.V60V	HLA-DOA_uc010juj.3_Silent_p.V30V|HLA-DOA_uc010jui.3_Silent_p.V60V	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	60	Alpha-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TCTTCAGGTCCACAGAGAACA	0.602000														48			19		0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	11905494	11905494	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:11905494C>T	uc001qzz.3	+	1	418	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	48	PNT.					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				AAGACTCGATCCGCCTGCCTG	0.622000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""									56			22		0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8218758	8218758	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:8218758G>A	uc002glc.3	+	6	1442	c.1287G>A	c.(1285-1287)gaG>gaA	p.E429E	ARHGEF15_uc002gld.3_Silent_p.E429E|ARHGEF15_uc010vuw.2_Silent_p.E318E	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	429	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TGACGTCCGAGGCTTCCTACC	0.622000														106			52		0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143560784	143560784	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:143560784C>T	uc003ywm.3	+	6	1845	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	554	TSP type-1 5.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGCCCTTCTTCGGGGGAGCAG	0.706000														10			7		0	0	1	0	0
NFAM1	150372	broad.mit.edu	37	22	42807450	42807450	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:42807450G>A	uc003bcn.4	-	1	452	c.414C>T	c.(412-414)tcC>tcT	p.S138S		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	Homo sapiens NFAT activating protein with ITAM motif 1 (NFAM1), mRNA.	138	Ig-like V-type.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						CTCTCACCGTGGAGTGTGGCC	0.597000														20			17		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72049908	72049908	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:72049908C>T	uc021rkj.1	-	8	2373	c.1950G>A	c.(1948-1950)acG>acA	p.T650T	DACH1_uc021rkk.1_Silent_p.T502T|DACH1_uc021rkl.1_Silent_p.T448T	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	700	DACHbox-C.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.T650M(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CACGCCGTTTCGTCTCAAACT	0.388000														196			84		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872836	55872836	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55872836C>T	uc010riy.2	+	0	318	c.318C>T	c.(316-318)ttC>ttT	p.F106F		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTTTTGCCTTCTTGGGTACTG	0.448000										HNSCC(53;0.14)				370			146		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786202	112786202	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:112786202G>A	uc002thk.1	+	18	2883	c.2761G>A	c.(2761-2763)Gac>Aac	p.D921N	MERTK_uc002thl.1_Missense_Mutation_p.D745N	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	921					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AGAAGTTCATGACAGCAAACC	0.537000														113			43		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32366635	32366635	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:32366635G>A	uc004dda.1	-	37	5580	c.5336C>T	c.(5335-5337)cCt>cTt	p.P1779L	DMD_uc004dcw.2_Missense_Mutation_p.P435L|DMD_uc004dcx.2_Missense_Mutation_p.P438L|DMD_uc004dcz.2_Missense_Mutation_p.P1656L|DMD_uc004dcy.1_Missense_Mutation_p.P1775L|DMD_uc004ddb.1_Missense_Mutation_p.P1771L|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1779	Interaction with SYNM (By similarity).				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)				TTCCTTCAAAGGAATGGAGGC	0.343000														9			14		0	0	1	0	0
CASQ2	845	broad.mit.edu	37	1	116311050	116311050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:116311050G>A	uc001efx.4	-	0	377	c.113C>T	c.(112-114)tCc>tTc	p.S38F	CASQ2_uc010owu.2_Missense_Mutation_p.S38F	NM_001232	NP_001223	O14958	CASQ2_HUMAN	Homo sapiens calsequestrin 2 (cardiac muscle) (CASQ2), nuclear gene encoding mitochondrial protein, mRNA.	38					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTTCTTCTCGGAAAGACTTAC	0.438000														61			92		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113679831	113679831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113679831C>T	uc001poh.3	-	16	2151	c.2118G>A	c.(2116-2118)atG>atA	p.M706I	USP28_uc001pog.3_Missense_Mutation_p.M414I|USP28_uc010rwy.2_Missense_Mutation_p.M581I|USP28_uc001poi.3_Missense_Mutation_p.M61I	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	706					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TGGAGGACTCCATTTGAGGGA	0.463000														223			92		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802259	185802259	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:185802259G>A	uc002uph.3	+	3	2730	c.2136G>A	c.(2134-2136)ggG>ggA	p.G712G		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	712						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TACATTCTGGGAAACATAATT	0.308000														71			26		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152557374	152557374	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:152557374C>T	uc021zhb.1	-	107	20487	c.20264G>A	c.(20263-20265)cGa>cAa	p.R6755Q	SYNE1_uc003qos.4_Missense_Mutation_p.R1279Q|SYNE1_uc003qot.4_Missense_Mutation_p.R6684Q|SYNE1_uc003qou.4_Missense_Mutation_p.R6755Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6755					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATCAGAAGTCGTTTCCCATC	0.338000										HNSCC(10;0.0054)				32			30		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76891507	76891507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:76891507G>A	uc001oyb.2	+	21	2946	c.2674G>A	c.(2674-2676)Gag>Aag	p.E892K	MYO7A_uc010rsl.2_Missense_Mutation_p.E892K|MYO7A_uc010rsm.1_Missense_Mutation_p.E881K|MYO7A_uc001oyc.2_Missense_Mutation_p.E892K|MYO7A_uc001oyd.3_Missense_Mutation_p.E232K|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.E103K	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	892					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						GGCCAAGGAGGAGGCCGAGCG	0.612000														22			6		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72338847	72338847	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72338847G>A	uc002jkm.4	+	3	448	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	KIF19_uc002jkj.2_Missense_Mutation_p.G104S|KIF19_uc002jkk.2_Missense_Mutation_p.G104S|KIF19_uc002jkl.2_Missense_Mutation_p.G104S	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	104	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTTTGCCTATGGCCCCACAGG	0.592000														55			25		0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170406	58170406	+	Silent	SNP	C	T	T	rs141530938		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:58170406C>T	uc010rkf.2	-	0	477	c.477G>A	c.(475-477)ggG>ggA	p.G159G		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G159G(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAAATGTGTCCCCAGTGTGGA	0.453000														134			26		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187672	140187672	+	Silent	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140187672A>C	uc003lhi.2	+	0	1001	c.900A>C	c.(898-900)ggA>ggC	p.G300G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.G300G|PCDHAC2_uc011daa.2_Silent_p.G300G	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	315	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATTACTGGACAAATTATTG	0.353000														128			29		0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118779085	118779085	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118779085G>A	uc001pug.3	-	1	1271	c.306C>T	c.(304-306)ccC>ccT	p.P102P	BCL9L_uc009zal.3_Silent_p.P97P|MIR4492_uc021qrh.1_5'Flank	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	102					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGCTGAAAGGGGGCACCCCTG	0.637000														79			32		0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133119161	133119161	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:133119161C>T	uc003epn.1	+	0	372	c.234C>T	c.(232-234)ctC>ctT	p.L78L		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	78	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GCCGGGCCCTCGGCATCAGCA	0.647000														71			19		0	0	1	0	0
ABCF2	10061	broad.mit.edu	37	7	150915701	150915701	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150915701G>A	uc003wjo.1	-	9	1284	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	ABCF2_uc003wjp.3_Silent_p.I391I	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	391						ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGTGGAGGGATCTTGCCAC	0.478000														67			10		0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24805461	24805461	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24805461G>A	uc001wpb.3	-	9	1687	c.1477C>T	c.(1477-1479)Cca>Tca	p.P493S	ADCY4_uc001wow.3_5'Flank|ADCY4_uc010toh.2_5'Flank|ADCY4_uc001wox.3_5'Flank|ADCY4_uc001woy.3_5'Flank|ADCY4_uc001woz.4_5'Flank|RIPK3_uc001wpa.3_Missense_Mutation_p.P293S|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_Missense_Mutation_p.P272S	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	493					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GAACCTACTGGTGGGGGGTGC	0.547000														92			9		0	0	1	0	0
YPEL4	219539	broad.mit.edu	37	11	57413472	57413472	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57413472C>T	uc001nkv.4	-	4	810	c.366G>A	c.(364-366)aaG>aaA	p.K122K	AK096335_uc001nkt.1_Intron|YPEL4_uc009ymk.3_Non-coding_Transcript	NM_145008	NP_659445	Q96NS1	YPEL4_HUMAN	Homo sapiens yippee-like 4 (Drosophila) (YPEL4), mRNA.	122						nucleolus				lung(2)|skin(1)	3						AGCCGTTGTCCTTCACCATGT	0.547000														68			35		0	0	1	0	0
MYOZ3	91977	broad.mit.edu	37	5	150051192	150051192	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:150051192G>A	uc003lss.2	+	3	837	c.250G>A	c.(250-252)Gga>Aga	p.G84R	MYOZ3_uc003lsr.2_Missense_Mutation_p.G84R	NM_001122853	NP_588612	Q8TDC0	MYOZ3_HUMAN	Homo sapiens myozenin 3 (MYOZ3), transcript variant 1, mRNA.	84	Binding to FLNC.					sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGGTGACTGGAACAGCGGA	0.682000														121			13		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111744784	111744784	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:111744784G>T	uc001tsa.2	+	10	1072	c.918G>T	c.(916-918)aaG>aaT	p.K306N		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	306						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K306K(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGGCCTCCAAGGACAGGGAGA	0.642000														77			31		1.61788e-16	1.62555e-16	1	1	0
TTC36	143941	broad.mit.edu	37	11	118399470	118399470	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118399470C>T	uc001ptg.1	+	1	271	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	TTC36_uc010ryb.1_Non-coding_Transcript|TTC36_uc010ryc.1_Missense_Mutation_p.R32C|TMEM25_uc010ryd.1_5'Flank|TMEM25_uc001ptk.4_5'Flank|TMEM25_uc010ryf.2_5'Flank|TMEM25_uc010rye.2_5'Flank|TMEM25_uc009zad.3_5'Flank|TMEM25_uc001pth.3_5'Flank|TMEM25_uc001pti.3_5'Flank|TMEM25_uc001ptl.2_5'Flank|TMEM25_uc001ptm.2_5'Flank	NM_001080441	NP_001073910	A6NLP5	TTC36_HUMAN	Homo sapiens tetratricopeptide repeat domain 36 (TTC36), mRNA.	91							binding			lung(2)	2						CTACAACAACCGTGCCCAGGC	0.637000														31			22		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50094243	50094243	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:50094243C>T	uc004dox.4	+	11	4262	c.3964C>T	c.(3964-3966)Ccc>Tcc	p.P1322S	CCNB3_uc004doy.3_Missense_Mutation_p.P1322S|CCNB3_uc004doz.3_Missense_Mutation_p.P218S|CCNB3_uc010njq.3_Missense_Mutation_p.P214S|CCNB3_uc004dpa.3_Missense_Mutation_p.P161S	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1322					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CTTCCAGGTTCCCTTCCTGGA	0.458000														37			62		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519159	113519159	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:113519159C>T	uc010ljy.1	-	3	2019	c.1988G>A	c.(1987-1989)gGa>gAa	p.G663E		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	663					glycogen metabolic process	integral to membrane		p.G663G(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTTGATTTTCCCTGACTTTC	0.363000														164			61		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8601239	8601239	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8601239C>T	uc002mkg.3	-	18	2078	c.1940G>A	c.(1939-1941)gGg>gAg	p.G647E		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	647	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GCGTTCGTCCCCACGCCACCG	0.652000														86			7		0	0	1	0	0
TAAR2	9287	broad.mit.edu	37	6	132938624	132938624	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:132938624G>A	uc003qdl.1	-	1	721	c.721C>T	c.(721-723)Cat>Tat	p.H241Y	TAAR2_uc010kfr.1_Missense_Mutation_p.H196Y	NM_001033080	NP_055441	Q9P1P5	TAAR2_HUMAN	Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA.	241						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		TTGATGGCATGAGCATGTTTT	0.383000														47			33		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61568741	61568741	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61568741C>T	uc002jau.2	+	19	2946	c.2912_splice	c.e19+1	p.R971_splice	ACE_uc010wpj.2_Splice_Site_p.R397_splice|ACE_uc010ddv.2_Splice_Site_p.R198_splice|ACE_uc002jav.2_Splice_Site_p.R397_splice|ACE_uc002jaw.2_Splice_Site|ACE_uc010wpk.2_Splice_Site_p.R217_splice	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	971	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)	CAAGGACTTCCGGTACATCCA	0.607000														57			36		0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145770958	145770958	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145770958G>A	uc003zds.1	-	6	2751	c.2196C>T	c.(2194-2196)atC>atT	p.I732I	ARHGAP39_uc011llk.1_Silent_p.I732I|ARHGAP39_uc003zdt.1_Silent_p.I732I	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	732	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGCTTGTCACGATCATGGGCT	0.612000														41			13		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766107	13766107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13766107C>T	uc003jfd.2	-	58	10121	c.10079G>A	c.(10078-10080)gGg>gAg	p.G3360E	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3360	Stalk (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)					TAAAAAGTTCCCTGCAGTCAT	0.428000									Kartagener syndrome					142			23		0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11971966	11971966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:11971966C>T	uc001mjs.3	+	23	4283	c.3520C>T	c.(3520-3522)Cat>Tat	p.H1174Y	USP47_uc001mjr.3_Missense_Mutation_p.H1106Y|USP47_uc009ygi.3_5'UTR	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	Homo sapiens ubiquitin specific peptidase 47 (USP47), mRNA.	1194					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	WD40-repeat domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTTGGATTATCATATTTATGA	0.323000														106			39		0	0	1	0	0
NR0B1	190	broad.mit.edu	37	X	30327363	30327363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:30327363C>T	uc004dcf.4	-	0	133	c.118G>A	c.(118-120)Ggc>Agc	p.G40S		NM_000475	NP_000466	P51843	NR0B1_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 1 (NR0B1), mRNA.	40	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|RNA binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CACGAACAGCCCCAGCACTGA	0.657000														7			4		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18075548	18075548	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:18075548C>T	uc021trm.1	+	62	10513	c.10294C>T	c.(10294-10296)Cct>Tct	p.P3432S	MYO15A_uc021trl.1_Missense_Mutation_p.P3430S|MYO15A_uc010vxi.2_Missense_Mutation_p.P696S|MYO15A_uc010vxk.1_Missense_Mutation_p.P125S|MYO15A_uc010vxl.1_Missense_Mutation_p.P421S|MYO15A_uc002gsl.3_Missense_Mutation_p.P422L|MYO15A_uc010vxm.2_Silent_p.P255P|MYO15A_uc010cpv.3_Non-coding_Transcript	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	3432	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGTGCCAGCCCCTTGCATCCT	0.587000														37			27		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703603	4703603	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4703603G>A	uc001lzk.2	-	1	583	c.339C>T	c.(337-339)atC>atT	p.I113I	OR51E2_uc021qcr.1_Silent_p.I113I	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGCCAGCAGGATGGTGGATT	0.517000														45			15		0	0	1	0	0
ERO1L	30001	broad.mit.edu	37	14	53149110	53149110	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:53149110G>A	uc001wzv.3	-	2	471	c.251C>T	c.(250-252)cCg>cTg	p.P84L		NM_014584	NP_055399	Q96HE7	ERO1A_HUMAN	Homo sapiens ERO1-like (S. cerevisiae) (ERO1L), mRNA.	84					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					GAAAGGACACGGCCTCTTCAG	0.333000														106			35		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183717885	183717885	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:183717885G>A	uc003ivd.1	+	25	7384	c.7309G>A	c.(7309-7311)Gaa>Aaa	p.E2437K		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2437					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ACCTTCTTACGAACTTGTGAA	0.408000														20			7		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46832728	46832728	+	Missense_Mutation	SNP	C	T	T	rs140829009		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46832728C>T	uc002peh.3	+	11	1736	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	HIF3A_uc002peg.4_Missense_Mutation_p.R569W|HIF3A_uc021uwf.1_Missense_Mutation_p.R513W|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Missense_Mutation_p.R500W|HIF3A_uc002pel.3_Missense_Mutation_p.R567W|HIF3A_uc010xxz.2_Missense_Mutation_p.R518W	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	569	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GGCTGGGGCTCGGAAGAGGTG	0.652000														10			6		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168678418	168678418	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:168678418G>A	uc010jjg.3	-	1	663	c.243C>T	c.(241-243)ttC>ttT	p.F81F	SLIT3_uc003mab.3_Silent_p.F81F|SLIT3_uc010jji.2_Silent_p.F81F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	81					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding	p.D80G(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAGCCCAGCGAAGTCCATCT	0.433000														95			32		0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61386197	61386197	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61386197C>T	uc002ydf.3	+	1	1246	c.875C>T	c.(874-876)cCt>cTt	p.P292L		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	292						Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCATCGAGCCTGGCAGGGTC	0.687000														29			12		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32812098	32812098	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:32812098C>T	uc001utx.3	+	43	6889	c.6393C>T	c.(6391-6393)tcC>tcT	p.S2131S	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCAAAATATCCATGGTGGATG	0.498000														96			22		0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62798036	62798036	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:62798036C>T	uc001src.2	+	21	2902	c.2827C>T	c.(2827-2829)Cct>Tct	p.P943S	USP15_uc001srb.2_Missense_Mutation_p.P914S	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	943					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TGGCTTTTTTCCTCTTGACCG	0.378000														171			42		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884347	228884347	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228884347G>A	uc002vpq.2	-	6	1270	c.1223C>T	c.(1222-1224)tCt>tTt	p.S408F	SPHKAP_uc002vpp.2_Missense_Mutation_p.S408F|SPHKAP_uc010zlx.1_Missense_Mutation_p.S408F	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	408						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGAGATTGAGATAATCTAAT	0.438000														91			26		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17657536	17657537	+	Missense_Mutation	DNP	CC	TT	TT	rs77182432	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17657536_17657537CC>TT	uc001baj.2	+	1	193_194	c.165_166CC>TT	c.(163-168)ggccct>ggTTct	p.P56S	PADI4_uc009vpc.2_Missense_Mutation_p.P56S	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	56					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TTGCCCACGGCCCTCCAGCCAA	0.599000														45			23		0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48457594	48457594	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48457594G>A	uc001rqx.3	-	12	1752	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C	SENP1_uc001rqw.3_Missense_Mutation_p.R436C|SENP1_uc001rqy.3_Missense_Mutation_p.R237C|SENP1_uc001rqz.3_Missense_Mutation_p.R237C|SENP1_uc009zkx.3_Missense_Mutation_p.R436C	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	436					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	SUMO-specific protease activity|endopeptidase activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TTCCCATTACGAAATACATTC	0.383000														37			10		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51025755	51025755	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:51025755G>A	uc002lfe.2	+	26	4602	c.3986G>A	c.(3985-3987)aGa>aAa	p.R1329K	DCC_uc010dpf.2_Missense_Mutation_p.R962K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1329					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCACCAAGCAGAACCATCCCC	0.542000														101			46		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594458	140594458	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140594458G>A	uc003lja.1	+	0	950	c.763G>A	c.(763-765)Gac>Aac	p.D255N		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	255	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATCTCTGAGGACAGTCCGGT	0.498000														223			79		0	0	1	0	0
METTL17	64745	broad.mit.edu	37	14	21464991	21464991	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21464991C>T	uc001vyo.3	+	12	1583	c.1386C>T	c.(1384-1386)acC>acT	p.T462T	METTL17_uc001vym.3_Missense_Mutation_p.P429L|METTL17_uc001vyn.3_Missense_Mutation_p.P438L|SLC39A2_uc001vys.3_5'Flank|SLC39A2_uc001vyr.3_5'Flank	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.	0					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GATCTTTTACCTGTGCTTACT	0.522000														94			39		0	0	1	0	0
SLC25A37	51312	broad.mit.edu	37	8	23429132	23429132	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:23429132C>T	uc003xdo.3	+	3	934	c.781C>T	c.(781-783)Ctt>Ttt	p.L261F	SLC25A37_uc003xdp.3_Non-coding_Transcript|SLC25A37_uc003xdq.3_Non-coding_Transcript|FP15737_uc003xds.3_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	Homo sapiens solute carrier family 25, member 37 (SLC25A37), nuclear gene encoding mitochondrial protein, mRNA.	261					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CTGTAAGACCCTTCTGAACAC	0.677000														22			10		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42379582	42379582	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42379582C>T	uc001zox.3	-	2	266	c.171G>A	c.(169-171)atG>atA	p.M57I		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	57	C2.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TCTTAAACTTCATTCCAGGTG	0.547000														141			56		0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51487060	51487060	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:51487060C>T	uc004dpl.3	+	0	580	c.338C>T	c.(337-339)tCc>tTc	p.S113F		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	113					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GTGGAACCTTCCCGAGAGGAA	0.572000														4			7		0	0	1	0	0
PNPLA8	50640	broad.mit.edu	37	7	108138000	108138000	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:108138000G>A	uc003vff.1	-	6	1787	c.1380C>T	c.(1378-1380)acC>acT	p.T460T	PNPLA8_uc003vfi.1_Silent_p.T360T|PNPLA8_uc003vfh.1_Silent_p.T460T|PNPLA8_uc003vfj.1_Silent_p.T460T|PNPLA8_uc003vfk.1_Silent_p.T360T	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA.	460	Patatin.				fatty acid metabolic process|lipid catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						ATTTTCGTAGGGTCTGGAGAG	0.343000														46			24		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27121488	27121488	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27121488G>A	uc002rhu.4	+	1	279	c.121G>A	c.(121-123)Gag>Aag	p.E41K	DPYSL5_uc002rhv.4_Missense_Mutation_p.E41K|DPYSL5_uc021vev.1_Missense_Mutation_p.E41K	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	41					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGGCCGCGAGCTCATGAT	0.582000														67			23		0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434764	42434764	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42434764G>A	uc001zoz.3	-	18	2383	c.2291C>T	c.(2290-2292)cCc>cTc	p.P764L	PLA2G4F_uc010bcq.3_Missense_Mutation_p.P61L|PLA2G4F_uc001zoy.3_Missense_Mutation_p.P396L|PLA2G4F_uc001zpa.3_Missense_Mutation_p.P515L|PLA2G4F_uc010bcr.3_Missense_Mutation_p.P515L|PLA2G4F_uc010bcs.3_Missense_Mutation_p.P551L	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	764	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	p.P764S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GTTAACCAGGGGGAAGTGCAG	0.632000														50			19		0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24861028	24861028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:24861028C>T	uc001upd.2	+	8	3185	c.2607C>T	c.(2605-2607)gtC>gtT	p.V869V	SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Silent_p.V869V|SPATA13_uc001upg.2_Silent_p.V244V|SPATA13_uc010tcy.1_Silent_p.V190V|SPATA13_uc010tcz.2_Intron|SPATA13_uc010tdb.2_Intron|SPATA13_uc010tda.2_Silent_p.V188V|SPATA13_uc001uph.3_Silent_p.V166V|SPATA13_uc009zzz.2_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	244					cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GGACCAACGTCATCCGGGAGA	0.602000														68			29		0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38319978	38319978	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:38319978A>T	uc010cwt.1	+	6	1325	c.1030A>T	c.(1030-1032)Aag>Tag	p.K344*	CASC3_uc010cws.1_Nonsense_Mutation_p.K344*|CASC3_uc002hue.3_Nonsense_Mutation_p.K344*	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	344					RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						TGAGACTGTTAAGCATGAGAT	0.547000														90			85		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179644778	179644778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179644778C>T	uc021vsy.1	-	21	3903	c.3678G>A	c.(3676-3678)agG>agA	p.R1226R	TTN_uc021vsz.1_Silent_p.R1180R|TTN_uc021vta.1_Silent_p.R1180R|TTN_uc021vtb.1_Silent_p.R1180R|TTN_uc002unb.2_Silent_p.R1226R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1226							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)			CCATTTTCTTCCTAATTAAGG	0.333000														64			36		0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395442	115395442	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:115395442G>A	uc003ebr.2	+	2	1395	c.721G>A	c.(721-723)Gct>Act	p.A241T	GAP43_uc003ebq.2_Missense_Mutation_p.A205T	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	205					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GAGCAGCCAAGCTGAAGAGAA	0.607000														25			9		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27147884	27147884	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27147884C>T	uc002rhu.4	+	2	549	c.391C>T	c.(391-393)Cac>Tac	p.H131Y	DPYSL5_uc002rhv.4_Missense_Mutation_p.H131Y|DPYSL5_uc021vev.1_Missense_Mutation_p.H131Y	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	131					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACGCCCTCCACGTGGGGAT	0.612000														32			12		0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30632987	30632987	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30632987C>A	uc003nqz.3	-	5	1198	c.986G>T	c.(985-987)tGg>tTg	p.W329L	DHX16_uc011dmo.2_Missense_Mutation_p.W269L	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	329					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						CGCCTCCTCCCAGCGCCGCTG	0.617000														23			6		0.0215528	0.0215558	1	1	0
SGCZ	137868	broad.mit.edu	37	8	14022150	14022150	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:14022150C>T	uc003wwq.3	-	4	1146	c.486G>A	c.(484-486)agG>agA	p.R162R	SGCZ_uc010lss.3_Silent_p.R115R	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	149					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		AAAACAGCACCCTGCCATCTT	0.413000														57			27		0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125516860	125516860	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:125516860C>T	uc001lhk.1	-	11	2111	c.1786G>A	c.(1786-1788)Gat>Aat	p.D596N	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	596					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TAGCTGAAATCGTTCAGACCT	0.493000														99			41		0	0	1	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764975	109764975	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:109764975C>T	uc004eos.1	+	0		c.1436C>T								Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																		ATGCAAATTTCATGACCCGTA	0.343000														22			15		0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137816641	137816641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:137816641G>A	uc003erq.3	-	2	913	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	DZIP1L_uc003err.1_Missense_Mutation_p.H184Y	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	184						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						cgctggatgtggccccggaga	0.577000											OREG0015831	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			10		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18378199	18378199	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18378199G>A	uc010ebn.2	-	2	367	c.151C>T	c.(151-153)Cct>Tct	p.P51S	KIAA1683_uc002nin.2_Missense_Mutation_p.P51S|KIAA1683_uc010xqe.1_Missense_Mutation_p.P5S	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	51						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGCTGTGGAGGCGCTTTCTCC	0.667000														107			48		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57611049	57611049	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57611049G>A	uc009vzx.1	-	2	441	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	DAB1_uc001cyt.1_Missense_Mutation_p.R41W|DAB1_uc001cyq.1_Missense_Mutation_p.R41W|DAB1_uc001cyr.1_Missense_Mutation_p.R41W|DAB1_uc009vzw.1_Missense_Mutation_p.R41W|DAB1_uc001cys.1_Missense_Mutation_p.R41W	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	41	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCTTTGTACCGGACCCCTTCA	0.443000														99			36		0	0	1	0	0
HBG1	3047	broad.mit.edu	37	11	5275566	5275566	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5275566C>T	uc001mai.1	-	1	708	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.E91K	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	91					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGCAGTTCACTCAGCTGG	0.507000														130			28		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9017450	9017450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9017450G>A	uc002mkp.3	-	25	38078	c.37874C>T	c.(37873-37875)cCt>cTt	p.P12625L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12627	SEA 4.				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						GTCCACTCCAGGGCTTTTGGG	0.572000														160			11		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92600263	92600263	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92600263C>T	uc001pdj.4	+	20	12032	c.12015C>T	c.(12013-12015)ttC>ttT	p.F4005F	FAT3_uc001pdi.4_Silent_p.F445F	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4005	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCAGCAGCTTCGCGGAGGTGG	0.662000										TCGA Ovarian(4;0.039)				6			3		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924294	188924294	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:188924294C>T	uc003izh.1	+	3	741	c.333C>T	c.(331-333)ttC>ttT	p.F111F	ZFP42_uc003izi.1_Silent_p.F111F|ZFP42_uc021xvm.1_Silent_p.F111F	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	111					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AAAAGGTTTTCGAAGCAAGCT	0.408000														87			35		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999996	46999996	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:46999996G>A	uc001jec.3	+	2	1251	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	GPRIN2_uc021ppt.1_Silent_p.L372L	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	372										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGTCCAGCCTGGAGGAGGTGC	0.672000														111			16		0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42546860	42546860	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42546860C>T	uc002osj.1	-	10	1352	c.1317G>A	c.(1315-1317)ggG>ggA	p.G439G	GRIK5_uc002osi.1_Silent_p.G11G|GRIK5_uc010eib.1_Silent_p.G358G	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	439						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	AGCGTTCGTTCCCCGACAGGG	0.652000														33			16		0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65108835	65108835	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65108835G>A	uc002ant.2	-	11	1870	c.1804C>T	c.(1804-1806)Cgc>Tgc	p.R602C	PIF1_uc002anr.2_Missense_Mutation_p.R150C|PIF1_uc002ans.2_Missense_Mutation_p.R293C|PIF1_uc010uiq.1_Missense_Mutation_p.R602C	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	602	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						GGGTCACAGCGAACCGCCATG	0.657000														174			36		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73142151	73142151	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:73142151C>T	uc010izf.3	+	11	1662	c.1486C>T	c.(1486-1488)Cac>Tac	p.H496Y	RGNEF_uc011csq.2_Missense_Mutation_p.H496Y|RGNEF_uc003kcy.1_Missense_Mutation_p.H496Y|RGNEF_uc021yam.1_Missense_Mutation_p.H496Y|RGNEF_uc011csr.2_Missense_Mutation_p.H183Y	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	496					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TGAGCCATCCCACATCTGTTA	0.483000														44			14		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14859437	14859437	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14859437G>A	uc003zlm.3	-	4	1191	c.375C>T	c.(373-375)gtC>gtT	p.V125V	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	125					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAGGAGATAGACCCACAGGA	0.403000														107			60		0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163117238	163117238	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:163117238G>A	uc001gcn.3	-	4	778	c.440C>T	c.(439-441)tCc>tTc	p.S147F	RGS5_uc021pdu.1_Missense_Mutation_p.S39F|RGS5_uc021pdt.1_Missense_Mutation_p.S151F|RGS5_uc009wvb.3_Missense_Mutation_p.S39F	NM_003617	NP_003608	O15539	RGS5_HUMAN	Homo sapiens regulator of G-protein signaling 5 (RGS5), transcript variant 1, mRNA.	147	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			GCTGCTCAGGGAAGGTTCCAC	0.463000														82			30		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451832	138451832	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:138451832C>T	uc003ihe.4	-	0	1798	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	PCDH18_uc003ihf.4_Missense_Mutation_p.E464K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.E251K|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	471	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATTACAAATTCATATCGGCTT	0.423000														185			66		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313818	54313818	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54313818G>A	uc002qcj.4	-	2	1315	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.F365F|NLRP12_uc002qci.4_Silent_p.F365F|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.F365F	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	365	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTGCCTCAGAGAAGCCCAGGA	0.542000														226			90		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263555	39263555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:39263555C>T	uc001uwv.3	+	0	2383	c.2074C>T	c.(2074-2076)Cgt>Tgt	p.R692C		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	692					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTTTGTGATTCGTATCCATCC	0.562000														104			32		0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72238431	72238431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:72238431G>A	uc002llq.3	+	6	978	c.767G>A	c.(766-768)aGa>aAa	p.R256K	CNDP1_uc002lls.3_Missense_Mutation_p.R59K	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	256					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.C255F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GTGAAATGCAGAGACCAGGAT	0.413000														90			28		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51753026	51753026	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51753026C>T	uc001ryk.2	-	6	1483	c.1258G>A	c.(1258-1260)Ggc>Agc	p.G420S	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.G420S|GALNT6_uc001ryj.1_5'UTR	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	420					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACACTAGTGCCCTTGGGGAAG	0.547000														221			87		0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114641717	114641717	+	Splice_Site	SNP	G	A	A	rs149899868		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:114641717G>A	uc021osa.1	-	5	1442	c.1364_splice	c.e5+1	p.R455_splice	SYT6_uc021orz.1_Splice_Site_p.R370_splice|SYT6_uc001eev.3_Splice_Site_p.R370_splice|SYT6_uc001eeu.3_Splice_Site_p.R15_splice	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	455	C2 2.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTACCTACCGATCATAGTCC	0.512000														92			45		0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846645	47846645	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:47846645G>A	uc011dwm.2	-	2	1969	c.1935C>T	c.(1933-1935)ccC>ccT	p.P645P	PTCHD4_uc011dwn.2_Silent_p.P392P	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	645						integral to membrane	hedgehog receptor activity										AGACAAAGGAGGGGTTGAACA	0.473000														158			34		0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5968191	5968191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:5968191C>T	uc003zjq.4	-	2	2256	c.2040G>A	c.(2038-2040)atG>atA	p.M680I		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	680	Lys-rich.									breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTTTTGCCCTCATTTTAGTTA	0.343000														20			3		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13752396	13752396	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13752396G>A	uc003jfd.2	-	63	10917	c.10875C>T	c.(10873-10875)atC>atT	p.I3625I	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3625	AAA 5 (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)					TTAAAGACGTGATCTAGGAAC	0.423000									Kartagener syndrome					69			23		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170011071	170011071	+	Missense_Mutation	SNP	C	T	T	rs147817392		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170011071C>T	uc002ues.3	-	65	12407	c.12194G>A	c.(12193-12195)cGa>cAa	p.R4065Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4065					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATTATATTTTCGAATTCGGAC	0.378000														93			16		0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131191231	131191231	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:131191231C>T	uc003qch.2	-	14	2261	c.2079G>A	c.(2077-2079)aaG>aaA	p.K693K	EPB41L2_uc003qce.1_Silent_p.K71K|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc010kfl.2_Silent_p.K623K|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc003qci.3_Silent_p.K623K|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Silent_p.K90K	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	693					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTGCCCGCTTCTTCTCCTCCA	0.408000														40			32		0	0	1	0	0
AK302694	0	broad.mit.edu	37	10	30998288	30998288	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:30998288C>T	uc010qdx.1	+	7	1376	c.834C>T	c.(832-834)ttC>ttT	p.F278F						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		CTGGGGATTTCGCAGCCACGG	0.552000														37			16		0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191941038	191941038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:191941038C>T	uc002usm.2	-	3	602	c.287G>A	c.(286-288)gGa>gAa	p.G96E	STAT4_uc002usn.2_Missense_Mutation_p.G96E|STAT4_uc002uso.2_Missense_Mutation_p.G96E|STAT4_uc002usp.4_Missense_Mutation_p.G96E	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	96					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CATTGGATTTCCATGAAATTT	0.333000														93			25		0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134179608	134179608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:134179608G>A	uc009zdf.3	+	10	1410	c.1050G>A	c.(1048-1050)atG>atA	p.M350I	GLB1L3_uc010scu.1_Missense_Mutation_p.M51I|GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	350					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TTGGTTTCATGAACGGGGCCA	0.493000														20			4		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23811825	23811825	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:23811825C>T	uc003sws.4	+	14	1960	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S	STK31_uc003swt.4_Silent_p.S608S|STK31_uc011jze.2_Silent_p.S631S|STK31_uc010kuq.3_Silent_p.S608S	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	631							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ACTTGCTATCCATTAAGAAGA	0.313000														67			26		0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9864270	9864270	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:9864270C>T	uc004csu.1	+	3	2412	c.2322C>T	c.(2320-2322)ctC>ctT	p.L774L		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	774					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)				AGGTGGGCCTCACGAGGGGCT	0.587000														8			15		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19760621	19760621	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19760621T>G	uc002nnh.4	-	17	2492	c.2464A>C	c.(2464-2466)Acc>Ccc	p.T822P	ATP13A1_uc002nne.3_5'UTR|ATP13A1_uc002nnf.4_Missense_Mutation_p.T190P|ATP13A1_uc002nng.3_Missense_Mutation_p.T704P	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	822					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGGGGGTCGGTGGCCTGCAGG	0.692000														33			7		0	0	1	0	0
DPH3	285381	broad.mit.edu	37	3	16306497	16306497	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:16306497G>A	uc003cau.3	-	1	1	c.-112_splice	c.e1-1		DPH3_uc003cat.4_5'Flank|DPH3_uc003cav.3_Splice_Site|OXNAD1_uc010her.2_5'Flank|OXNAD1_uc003caw.3_5'Flank|OXNAD1_uc003cax.3_5'Flank	NM_206831	NP_996662	Q96FX2	DPH3_HUMAN	Homo sapiens DPH3, KTI11 homolog (S. cerevisiae) (DPH3), transcript variant 1, mRNA.						negative regulation of protein secretion|peptidyl-diphthamide biosynthetic process from peptidyl-histidine|positive regulation of binding	cytoplasm|nucleus	metal ion binding|protein binding			large_intestine(2)	2						GCCGGGCAAGGACTAGCCCTT	0.657000														8			4		0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190328438	190328438	+	Missense_Mutation	SNP	G	A	A	rs144965982		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:190328438G>A	uc002uql.1	+	9	1016	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	WDR75_uc002uqm.1_Missense_Mutation_p.R255Q|WDR75_uc002uqn.1_Missense_Mutation_p.R97Q	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	319						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			ATTATTCACCGAAACCTTGAA	0.368000														81			38		0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65107856	65107856	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65107856C>T	uc001odm.3	+	2	166	c.33_splice	c.e2-1	p.L11_splice	DPF2_uc010roe.2_Splice_Site_p.L11_splice	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	11					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TTCCCTGCAGCCTTGGGGAGC	0.557000														232			48		0	0	1	0	0
TCRBV14S1	0	broad.mit.edu	37	7	142423748	142423749	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142423748_142423749GG>AA	uc010lol.1	+	1	437_438	c.404_405GG>AA	c.(403-405)agg>aAA	p.R135K	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron|TCRBV14S1_uc011ksj.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GCAAGAACAAGGAGACTCCTCC	0.550000														21			7		0	0	1	0	0
C20orf151	140893	broad.mit.edu	37	20	60987918	60987918	+	Missense_Mutation	SNP	C	T	T	rs145375194	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:60987918C>T	uc002ycw.2	-	11	1911	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	572										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)			TCATCCAGTTCGTCGGACTCT	0.652000														74			29		0	0	1	0	0
ENTPD2	954	broad.mit.edu	37	9	139944958	139944958	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139944958G>A	uc004ckw.2	-	5	861	c.807C>T	c.(805-807)ggC>ggT	p.G269G	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Silent_p.G269G	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	269						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGGTGGAAAAGCCCCTCGGCC	0.642000											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			9		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7976167	7976167	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7976167G>A	uc002gjy.1	-	14	2289	c.2028C>T	c.(2026-2028)atC>atT	p.I676I		NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	676	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TGCGCTGGCGGATGTCGTGTG	0.602000										Multiple Myeloma(8;0.094)				50			6		0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97373078	97373078	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:97373078G>A	uc002swv.3	-	8	1031	c.995C>T	c.(994-996)tCc>tTc	p.S332F	LMAN2L_uc002swu.3_Missense_Mutation_p.S321F|LMAN2L_uc010yuu.2_Missense_Mutation_p.S185F|LMAN2L_uc010yut.2_Missense_Mutation_p.S187F|LMAN2L_uc010yuv.2_Missense_Mutation_p.S174F|LMAN2L_uc010yuw.2_Missense_Mutation_p.S176F|LMAN2L_uc010yux.2_Missense_Mutation_p.S176F	NM_001142292	NP_001135764	Q9H0V9	LMA2L_HUMAN	Homo sapiens lectin, mannose-binding 2-like (LMAN2L), transcript variant 1, mRNA.	321					ER to Golgi vesicle-mediated transport|protein folding|protein transport	ER to Golgi transport vesicle|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						AAACACCAGGGAGAAAAAGAC	0.522000														35			19		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115168320	115168320	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:115168320C>T	uc001efd.1	-	3	988	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.E96K	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	96										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		TTCTTATTTTCATTCTCACTT	0.343000														98			35		0	0	1	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435182	104435182	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:104435182G>A	uc003kok.3	+	0		c.8G>A								Homo sapiens RAB9B, member RAS oncogene family pseudogene 1 (RAB9BP1), non-coding RNA.																		TTAACGGCAGGAAAATCATCA	0.358000														35			10		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248731	20248731	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20248731G>A	uc010tku.2	+	0	250	c.250G>A	c.(250-252)Gac>Aac	p.D84N		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AATGCTCATAGACTTCTTTGT	0.443000														276			109		0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9674963	9674963	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:9674963C>T	uc010vvb.2	-	5	794	c.781G>A	c.(781-783)Gag>Aag	p.E261K	DHRS7C_uc010cof.3_Missense_Mutation_p.E260K	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	261						extracellular region	binding|oxidoreductase activity	p.E260V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CGCATCACCTCCTCCGCCACC	0.622000														10			11		0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188243719	188243719	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:188243719C>T	uc010frt.3	-	6	831	c.448G>A	c.(448-450)Gga>Aga	p.G150R	CALCRL_uc002upv.4_Missense_Mutation_p.G150R	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	150						integral to plasma membrane		p.G150*(2)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ATAGACAATCCGTGTCCAATT	0.294000														167			18		0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76348532	76348532	+	Splice_Site	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:76348532T>A	uc003ket.3	+	9	1748	c.1366_splice	c.e9-1	p.F456_splice		NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	456	FHA.				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)		CTTTCTAAGTTTCATGCAGAA	0.299000														49			7		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520385	33520385	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:33520385C>T	uc002hjd.2	-	0	1028	c.942G>A	c.(940-942)ggG>ggA	p.G314G		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	314	DUF6 2.					integral to membrane											CCAGCACAACCCCTGCCGCCA	0.562000														74			47		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	394645	394645	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:394645G>A	uc001ifp.3	-	25	3257	c.3167C>T	c.(3166-3168)aCc>aTc	p.T1056I	DIP2C_uc009xhi.1_Missense_Mutation_p.T442I	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1056						nucleus	catalytic activity|transcription factor binding	p.I1055K(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGGACGGACGGTTATTGGCAC	0.547000														163			59		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37725472	37725472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:37725472C>T	uc003chd.3	+	17	2086	c.2033C>T	c.(2032-2034)tCc>tTc	p.S678F		NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	678					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TTCAATGTTTCCCGGGAGCTC	0.473000														38			16		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41542137	41542137	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:41542137G>A	uc003xok.3	-	36	4546	c.4462C>T	c.(4462-4464)Cga>Tga	p.R1488*	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Nonsense_Mutation_p.R804*|ANK1_uc003xoi.3_Nonsense_Mutation_p.R1488*|ANK1_uc003xoj.3_Nonsense_Mutation_p.R1488*|ANK1_uc003xol.3_Nonsense_Mutation_p.R1488*|ANK1_uc003xom.3_Nonsense_Mutation_p.R1529*	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1488	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGGCTCTGTCGGCCGGAACCC	0.592000														40			14		0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76828852	76828852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:76828852C>T	uc003ugb.3	-	0	299	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	87					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TTTACGATTTCCTTGAGGTTT	0.507000														88			31		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187201178	187201178	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187201178C>T	uc003iza.1	+	7	1101	c.768C>T	c.(766-768)ctC>ctT	p.L256L		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	256	Apple 3.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	ATCTTTGTCTCCTTAAAACAT	0.373000														75			29		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70954525	70954525	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70954525C>T	uc001swb.4	-	14	3734	c.3704G>A	c.(3703-3705)gGa>gAa	p.G1235E	PTPRB_uc010sto.2_Missense_Mutation_p.G1145E|PTPRB_uc010stp.2_Missense_Mutation_p.G1145E|PTPRB_uc001swc.4_Missense_Mutation_p.G1453E|PTPRB_uc001swa.4_Missense_Mutation_p.G1365E|PTPRB_uc001swd.4_Missense_Mutation_p.G1452E|PTPRB_uc009zrr.2_Missense_Mutation_p.G1332E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1235	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTACTTCCTTCCAGGAACAAG	0.498000														43			15		0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793021	53793021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53793021G>A	uc002qbk.3	-	0	1855	c.607C>T	c.(607-609)Cct>Tct	p.P203S		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	203					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TGTCCACAAGGAATAAAAACA	0.438000														81			25		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042346	74042346	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74042346G>A	uc002sjr.1	+	2	1117	c.996G>A	c.(994-996)ggG>ggA	p.G332G		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	332										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CTGAGCTTGGGGACATTTCAA	0.438000														37			16		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139839014	139839014	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:139839014G>A	uc003yvd.3	-	5	1303	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	286	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AAACCTTGGGGGAACACATCC	0.522000										HNSCC(7;0.00092)				41			5		0	0	1	0	0
C20orf85	128602	broad.mit.edu	37	20	56735761	56735761	+	Silent	SNP	C	T	T	rs61749694	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:56735761C>T	uc002xyv.3	+	3	335	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	Homo sapiens chromosome 20 open reading frame 85 (C20orf85), mRNA.	99			I -> V (in dbSNP:rs17440813).							kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			AGGGCTTCATCGGCTGGAGAT	0.577000														43			7		0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281892	49281892	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:49281892G>A	uc010acw.1	+	1	1229	c.939G>A	c.(937-939)aaG>aaA	p.K313K	CYSLTR2_uc010acx.1_Silent_p.K313K|CYSLTR2_uc010acy.1_Silent_p.K313K|CYSLTR2_uc010acz.1_Silent_p.K313K|CYSLTR2_uc010ada.1_Silent_p.K313K|CYSLTR2_uc010adb.1_Silent_p.K313K|CYSLTR2_uc010adc.1_Silent_p.K313K|CYSLTR2_uc010add.1_Silent_p.K313K|CYSLTR2_uc001vck.2_Silent_p.K313K|CYSLTR2_uc021rjl.1_Silent_p.K313K	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	313					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	AGAATTTTAAGGACAGACTAA	0.443000														67			34		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107078517	107078517	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:107078517C>T	uc021ser.1	-	135		c.6157G>A								Parts of antibodies, mostly variable regions.																		CAACGACGATCCATCCTATCC	0.522000														106			17		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138578	126138578	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:126138578C>T	uc001uhe.1	+	8	2567	c.2559C>T	c.(2557-2559)ccC>ccT	p.P853P	TMEM132B_uc001uhf.1_Silent_p.P365P	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	853						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)		CCCAGTCTCCCATGGAAGGGA	0.522000														54			12		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280073	152280073	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152280073C>T	uc001ezu.1	-	2	7325	c.7289G>A	c.(7288-7290)cGg>cAg	p.R2430Q		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2430	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R2430W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTCCCGGTCCGTCCATGGGC	0.587000									Ichthyosis					363			95		0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3140824	3140824	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:3140824G>A	uc001lxk.2	-	6	802	c.644C>T	c.(643-645)cCc>cTc	p.P215L	OSBPL5_uc010qxq.1_Missense_Mutation_p.P126L|OSBPL5_uc009ydw.2_Missense_Mutation_p.P147L|OSBPL5_uc001lxl.2_Missense_Mutation_p.P147L|OSBPL5_uc009ydx.3_Missense_Mutation_p.P239L	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	215	PH.				Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GCTGGGCAGGGGCTGTGTGAT	0.642000														58			32		0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24654769	24654769	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24654769G>A	uc001wmv.1	-	12	2195	c.1174C>T	c.(1174-1176)Ctg>Ttg	p.L392L	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_Silent_p.L54L|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Silent_p.L256L|IPO4_uc001wmy.1_Silent_p.L256L|IPO4_uc001wmz.2_Silent_p.L392L	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	392					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AGTGGGGGCAGCAGTCTGGAT	0.552000														57			25		0	0	1	0	0
PTAFR	5724	broad.mit.edu	37	1	28477113	28477113	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:28477113G>A	uc009vte.3	-	2	755	c.420C>T	c.(418-420)gtC>gtT	p.V140V	PTAFR_uc021ojz.1_Silent_p.V140V|PTAFR_uc001bpl.3_Silent_p.V140V|PTAFR_uc001bpm.4_Silent_p.V140V|PTAFR_uc021oka.1_Silent_p.V140V	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	140					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCCAGATGACCAAGGACA	0.577000														86			29		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95604975	95604975	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:95604975G>A	uc001tdp.4	-	1	309	c.85C>T	c.(85-87)Cct>Tct	p.P29S	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	29					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGTGCAATAGGAGGTGGGGCT	0.428000														163			89		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833569	168833569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:168833569G>A	uc011bpj.1	-	7	2494	c.2091C>T	c.(2089-2091)ctC>ctT	p.L697L	MECOM_uc010hwk.1_Silent_p.L532L|MECOM_uc003ffj.3_Silent_p.L574L|MECOM_uc003ffi.3_Silent_p.L509L|MECOM_uc011bpi.1_Silent_p.L510L|MECOM_uc003ffn.3_Silent_p.L509L|MECOM_uc003ffk.2_Silent_p.L509L|MECOM_uc003ffl.2_Silent_p.L669L|MECOM_uc011bpk.1_Silent_p.L509L|MECOM_uc010hwn.2_Silent_p.L697L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAAAAAATGGGAGGGGAAACA	0.418000														85			37		0	0	1	0	0
UNCX	340260	broad.mit.edu	37	7	1275593	1275593	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:1275593C>T	uc011jvw.2	+	2	576	c.576C>T	c.(574-576)atC>atT	p.I192I		NM_001080461	NP_001073930	A6NJT0	UNC4_HUMAN	Homo sapiens UNC homeobox (UNCX), mRNA.	192					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CGGAGGAGATCGCGCGCAAGG	0.652000														17			7		0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136602719	136602719	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:136602719G>A	uc003lbo.3	-	1	403	c.212C>T	c.(211-213)cCc>cTc	p.P71L	SPOCK1_uc003lbp.3_Missense_Mutation_p.P71L	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	71					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCTTGTTGGGATTCCAGTT	0.363000														98			45		0	0	1	0	0
FGFBP1	9982	broad.mit.edu	37	4	15938219	15938219	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:15938219G>A	uc003gom.3	-	2	332	c.37C>T	c.(37-39)Cta>Tta	p.L13L	FGFBP1_uc021xml.1_Silent_p.L13L	NM_005130	NP_005121	Q14512	FGFP1_HUMAN	Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.	13					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						GCAGCCAGTAGGAGGAAGGAG	0.522000														90			16		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102995	22102995	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22102995C>T	uc010tmc.2	-	0	4	c.4G>A	c.(4-6)Gga>Aga	p.G2R		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTGGTCTTTCCCATGTCTTTT	0.438000														92			25		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8174515	8174515	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8174515C>T	uc002mjf.3	-	34	4473	c.4456_splice	c.e34+1	p.D1486_splice		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1486						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATGGACTCACCCACGCAGCCC	0.567000														74			30		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36227703	36227703	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36227703C>T	uc021usv.1	+	30	7272	c.7272C>T	c.(7270-7272)ttC>ttT	p.F2424F	MLL2_uc021usu.1_Silent_p.F1238F	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	0	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AGGATGGGTTCAGCGTTGAGG	0.577000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				67			27		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153660163	153660163	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153660163G>A	uc001fcs.4	+	13	2567	c.2146G>A	c.(2146-2148)Ggc>Agc	p.G716S	NPR1_uc010pdz.2_Missense_Mutation_p.G462S|NPR1_uc010pea.2_Missense_Mutation_p.G194S	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	716	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCCTGTGCGGGGCTCCCAGGC	0.597000														125			43		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76924069	76924069	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:76924069C>T	uc001oyb.2	+	46	6699	c.6427C>T	c.(6427-6429)Ccc>Tcc	p.P2143S	MYO7A_uc001oyc.2_Missense_Mutation_p.P2103S|MYO7A_uc001oye.2_Non-coding_Transcript	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	2143	FERM 2.				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						CCTCATCGATCCCAAAACGAA	0.527000														5			7		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55210706	55210706	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:55210706C>T	uc003jql.3	+	13	1960	c.1768C>T	c.(1768-1770)Ccc>Tcc	p.P590S	IL31RA_uc003jqm.3_Missense_Mutation_p.P571S|IL31RA_uc003jqn.3_Missense_Mutation_p.P590S|IL31RA_uc021xyq.1_Missense_Mutation_p.P571S|IL31RA_uc003jqo.3_Missense_Mutation_p.P448S	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	558					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)				GCCCACCGTTCCCAACCCTGC	0.428000														98			22		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238277716	238277716	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:238277716G>A	uc002vwl.2	-	9	4675	c.4390C>T	c.(4390-4392)Cga>Tga	p.R1464*	COL6A3_uc002vwo.2_Nonsense_Mutation_p.R1258*|COL6A3_uc010znj.1_Nonsense_Mutation_p.R857*	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1464	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R1464*(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGAGTCTTCGAACAATCCTG	0.473000														36			20		0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628411	173628411	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:173628411C>T	uc001gja.1	-	1	208	c.147G>A	c.(145-147)gaG>gaA	p.E49E	ANKRD45_uc001gjb.4_Silent_p.E49E	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	65										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TCTGCAAACCCTCTACATCCC	0.453000														34			20		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88847478	88847478	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:88847478G>A	uc011khi.2	+	1	656	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	40						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GGATTTTGCAGAAAAGAAGTC	0.348000										HNSCC(36;0.09)				70			26		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70946680	70946680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70946680G>A	uc001swb.4	-	18	4640	c.4610C>T	c.(4609-4611)cCt>cTt	p.P1537L	PTPRB_uc010sto.2_Missense_Mutation_p.P1447L|PTPRB_uc010stp.2_Missense_Mutation_p.P1447L|PTPRB_uc001swc.4_Missense_Mutation_p.P1755L|PTPRB_uc001swa.4_Missense_Mutation_p.P1667L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1537	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTTGCTGTTAGGATTTTCGGC	0.468000														93			28		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160113175	160113175	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:160113175G>A	uc003lym.1	-	5	1228	c.381C>T	c.(379-381)ttC>ttT	p.F127F	ATP10B_uc003lyp.2_Silent_p.F127F|ATP10B_uc011deg.1_Silent_p.F171F|ATP10B_uc003lyo.2_5'Flank	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	127					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(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATGATGACGAACAGGACAA	0.423000														35			16		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54905628	54905628	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54905628G>A	uc001sgc.4	+	7	856	c.777G>A	c.(775-777)tgG>tgA	p.W259*	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Nonsense_Mutation_p.W209*	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	259					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGGAGCGCTGGATTATCAGTA	0.413000														98			51		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749298	51749298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:51749298C>T	uc010hlv.3	+	3	1748	c.1509C>T	c.(1507-1509)ccC>ccT	p.P503P	GRM2_uc003dbo.4_5'UTR|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	503					synaptic transmission	integral to plasma membrane		p.E502E(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GCAGTGAGCCCTGCCTCCAGA	0.622000														25			14		0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108970464	108970464	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:108970464C>T	uc003yms.3	-	4	1118	c.460G>A	c.(460-462)Gga>Aga	p.G154R	RSPO2_uc003ymq.3_Missense_Mutation_p.G87R|RSPO2_uc003ymr.3_Missense_Mutation_p.G90R	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	154	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CTACAAGTTCCCCATTCGCTC	0.373000														65			24		0	0	1	0	0
FAM75D5	347127	broad.mit.edu	37	9	84530438	84530438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:84530438C>T	uc011lst.2	+	3	460	c.359C>T	c.(358-360)tCt>tTt	p.S120F						Homo sapiens family with sequence similarity 75, member D5, pseudogene (FAM75D5), non-coding RNA.																		CGACTGCTGTCTTGGGAGTCC	0.532000														41			4		0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63235883	63235883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63235883C>T	uc001nwy.2	-	3	604	c.430G>A	c.(430-432)Gag>Aag	p.E144K	HRASLS5_uc001nwz.2_Missense_Mutation_p.E134K|HRASLS5_uc010rmq.1_Missense_Mutation_p.E144K|HRASLS5_uc009yos.2_Intron	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	144								p.Y143N(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						GCCCAGTGCTCATAGCCAATT	0.408000														111			44		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632771	122632771	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122632771C>T	uc003efz.1	-	14	2370	c.2066G>A	c.(2065-2067)cGa>cAa	p.R689Q	SEMA5B_uc011bju.1_Missense_Mutation_p.R631Q|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.R689Q|SEMA5B_uc010hro.1_Missense_Mutation_p.R631Q|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	689	TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCTGCAACTTCGCTGGCGGAC	0.682000														60			30		0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17986820	17986820	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17986820C>T	uc002nhr.4	+	4	950	c.603C>T	c.(601-603)ggC>ggT	p.G201G		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	201					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGCTAAGTGGCTTCTGGGTTG	0.622000														76			18		0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186862233	186862233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:186862233C>T	uc001gsc.3	+	3	411	c.206C>T	c.(205-207)cCt>cTt	p.P69L	PLA2G4A_uc010pos.2_Missense_Mutation_p.P69L	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	69	C2.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GACATAAACCCTGTGTGGAAT	0.378000														217			68		0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580874	580874	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:580874G>A	uc002kko.1	+	0	506	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	156	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						TGGGGACGGCGAAGTGAACGA	0.537000														22			40		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10788473	10788473	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:10788473G>A	uc002czz.1	-	0	330	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	86					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TATAGCGAGAGAAGAGTGCGG	0.667000														65			31		0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3445789	3445789	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:3445789G>A	uc003ghc.3	+	4	502	c.499G>A	c.(499-501)Ggc>Agc	p.G167S	HGFAC_uc010icw.3_Missense_Mutation_p.G167S	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	167	EGF-like 1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGTGCCTCCGGCCCCTGCCT	0.662000														50			27		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881273	142881273	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142881273G>A	uc011ksw.2	+	0	762	c.762G>A	c.(760-762)atG>atA	p.M254I		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	254					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					ACCCCAGCATGGAGGCTCACA	0.488000														126			38		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429363	57429363	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:57429363G>A	uc002xzw.3	+	0	1328	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AAGAGAGAGCGAGCAGAGAGA	0.642000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				13			6		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158590148	158590148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158590148C>T	uc001fst.1	-	43	6428	c.6229G>A	c.(6229-6231)Gaa>Aaa	p.E2077K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2077					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCCGAATTTCATTCAGGGAG	0.473000														42			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431928	179431928	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179431928G>A	uc021vsy.1	-	274	71452	c.71227C>T	c.(71227-71229)Cca>Tca	p.P23743S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P17438S|TTN_uc021vta.1_Missense_Mutation_p.P17371S|TTN_uc021vtb.1_Missense_Mutation_p.P17246S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24670	Fibronectin type-III 72.						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)			TCTTGAAGTGGTGGAGACCAT	0.448000														158			47		0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25610343	25610343	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:25610343C>T	uc011djw.2	+	35	4281	c.3913C>T	c.(3913-3915)Cct>Tct	p.P1305S	LRRC16A_uc010jpy.3_Missense_Mutation_p.P1299S	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	1305					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GAAAAAAGTTCCTTCAGACAA	0.473000														116			46		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531646	50531646	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50531646G>A	uc021pqb.1	+	0	1056	c.1056G>A	c.(1054-1056)agG>agA	p.R352R	C10orf71_uc021pqa.1_Silent_p.R351R|C10orf71_uc021pqc.1_Silent_p.R352R	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	352										endometrium(1)	1						GGGGGTGCAGGGATCCAGGAG	0.582000														32			16		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5672668	5672668	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:5672668C>T	uc001qnm.2	-	25	2866	c.2794G>A	c.(2794-2796)Gac>Aac	p.D932N		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	937						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTGATCTGGTCGCTGATGTCC	0.527000														63			11		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53420603	53420603	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:53420603C>T	uc001vhi.3	-	0	2173	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	PCDH8_uc001vhj.3_Missense_Mutation_p.E657K	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	657	Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TCGCGCGGCTCCTGCTGCTGC	0.711000														24			13		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50413309	50413309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:50413309G>A	uc003daq.3	-	19	1814	c.1776C>T	c.(1774-1776)atC>atT	p.I592I	CACNA2D2_uc003dap.3_Silent_p.I592I	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	592					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGCTCCGACGGATCTGGAAGG	0.592000														94			9		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20955880	20955880	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20955880G>A	uc010vbe.2	-	57	11449	c.11449C>T	c.(11449-11451)Ctg>Ttg	p.L3817L	DNAH3_uc010vbd.2_Silent_p.L1252L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3817					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCCTCAAACAGCTGGTTGGTT	0.547000														54			24		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70926082	70926082	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70926082G>A	uc021rvq.1	+	0	1866	c.1866G>A	c.(1864-1866)aaG>aaA	p.K622K	ADAM21_uc001xmd.3_Silent_p.K622K	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	622	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCATCCATAAGAAGTGTGTCA	0.453000														90			12		0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	129231625	129231625	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:129231625C>T	uc010qun.2	+	47	5057	c.4993C>T	c.(4993-4995)Cct>Tct	p.P1665S	DOCK1_uc001ljt.3_Missense_Mutation_p.P1644S|DOCK1_uc009yaq.3_Missense_Mutation_p.P639S	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1644					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.D1665Y(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CTCATCCCGCCCTCTGTCTGT	0.612000														91			55		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030026	95030026	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:95030026G>A	uc010avd.3	+	1	592	c.318G>A	c.(316-318)gaG>gaA	p.E106E	SERPINA4_uc001ydk.3_Silent_p.E69E|SERPINA4_uc001ydl.3_Silent_p.E69E	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	69					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCGCTTCGGAGACCCCGGGGA	0.602000														79			35		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504631	70504631	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:70504631G>A	uc001dep.3	+	18	3040	c.3010G>A	c.(3010-3012)Gat>Aat	p.D1004N	LRRC7_uc009wbg.3_Missense_Mutation_p.D288N|LRRC7_uc001deq.3_Missense_Mutation_p.D245N	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1004						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						CCCAATGCTGGATGATGAGAT	0.468000														55			16		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69684658	69684658	+	Missense_Mutation	SNP	C	T	T	rs144426334		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:69684658C>T	uc010kak.3	+	7	1805	c.1529C>T	c.(1528-1530)cCt>cTt	p.P510L	BAI3_uc003pev.4_Missense_Mutation_p.P510L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	510					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A509P(1)|p.P510T(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATTGCAGCACCTTATGAAATA	0.413000														65			7		0	0	1	0	0
TNFSF15	9966	broad.mit.edu	37	9	117553124	117553124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117553124C>T	uc004bjh.3	-	3	480	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	TNFSF15_uc004bjg.3_Missense_Mutation_p.E63K	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	122					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						AGGCCTAGTTCATGTTCCCAG	0.448000														66			21		0	0	1	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940337	67940338	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:67940337_67940338GG>AA	uc001xjk.3	-	2	713_714	c.303_304CC>TT	c.(301-306)tgcccc>tgTTcc	p.P102S	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.P102S	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	102						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TAGTCCCAGGGGCAGGCGTTGA	0.629000														8			4		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57432321	57432321	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57432321G>A	uc001smw.4	-	16	1875	c.1635C>T	c.(1633-1635)tcC>tcT	p.S545S	MYO1A_uc010sqz.2_Silent_p.S383S|MYO1A_uc009zpd.3_Silent_p.S545S	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	545	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CAGGAAACAAGGACCGAAGGA	0.532000														100			26		0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121774677	121774677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:121774677C>T	uc003idn.3	-	2	446	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	PRDM5_uc003ido.3_Missense_Mutation_p.E66K|PRDM5_uc010ine.3_Missense_Mutation_p.E66K|PRDM5_uc010inf.3_Missense_Mutation_p.E66K|PRDM5_uc003idp.1_Missense_Mutation_p.E66K	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	66	SET.				histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.G65*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TACAAAACTTCTCCCTTACTC	0.453000														307			68		0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415108	88415108	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:88415108A>T	uc010ikm.3	-	4	1416	c.844T>A	c.(844-846)Tcg>Acg	p.S282T	SPARCL1_uc011cdc.2_Missense_Mutation_p.S157T|SPARCL1_uc003hqs.4_Missense_Mutation_p.S282T|SPARCL1_uc011cdd.2_Missense_Mutation_p.S157T	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	282					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	p.S282L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTGACGTTCGATGCATTTTCC	0.413000														316			125		0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119025267	119025267	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:119025267G>A	uc001pvs.3	+	4	858	c.522G>A	c.(520-522)caG>caA	p.Q174Q	ABCG4_uc009zar.3_Silent_p.Q174Q	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	174	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	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)		GTGAGAAGCAGGAGGTGAAGA	0.582000														26			9		0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354698	45354698	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:45354698C>T	uc002xsl.3	+	1	1120	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	341						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				AGACAGGCCTCCCTGGAGACT	0.597000														63			20		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71491387	71491387	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:71491387C>T	uc003kbw.4	+	4	2446	c.2205C>T	c.(2203-2205)ctC>ctT	p.L735L	MAP1B_uc010iyw.1_Silent_p.L752L|MAP1B_uc010iyx.1_Silent_p.L609L|MAP1B_uc010iyy.1_Silent_p.L609L	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	735	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TTAAGAAGCTCCCTAAAGACG	0.388000														65			37		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52585170	52585170	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:52585170C>T	uc002lfs.3	-	9	1019	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	CCDC68_uc002lft.3_Missense_Mutation_p.E283K	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	283										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TTAACCTTTTCTCTGAGATTT	0.368000														25			9		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922679	24922679	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24922679C>T	uc001ywo.3	+	0	2139	c.1665C>T	c.(1663-1665)tcC>tcT	p.S555S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	555					cell differentiation|multicellular organismal development|spermatogenesis			p.S555S(2)		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)		CAGTCATTTCCACTGTCACAA	0.488000														139			40		0	0	1	0	0
SLC36A1	206358	broad.mit.edu	37	5	150856304	150856304	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:150856304C>T	uc003luc.3	+	8	1193	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L	SLC36A1_uc003lub.1_Silent_p.L326L|SLC36A1_uc010jhw.1_Silent_p.L326L	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA.	326					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	AACCCTCAACCTGCCCAACTG	0.498000														42			15		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8615558	8615558	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8615558C>T	uc002mkg.3	-	8	930	c.792G>A	c.(790-792)ggG>ggA	p.G264G		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	264	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGGGCGGGATCCCAATAACCT	0.602000														77			24		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220494887	220494888	+	Missense_Mutation	DNP	CC	TT	TT	rs139813777		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220494887_220494888CC>TT	uc002vmo.4	+	5	914_915	c.705_706CC>TT	c.(703-708)ccccgg>ccTTgg	p.R236W	SLC4A3_uc002vmn.2_Missense_Mutation_p.R236W|SLC4A3_uc002vmp.4_Missense_Mutation_p.R209W|SLC4A3_uc010fwm.3_5'UTR|SLC4A3_uc010fwn.1_5'Flank	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	209					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCCAGCCCCCGGGCCCGGGC	0.693000														15			3		0	0	1	0	0
MTX1	4580	broad.mit.edu	37	1	155178747	155178747	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155178747G>A	uc001fjb.3	+	0	258	c.152G>A	c.(151-153)gGg>gAg	p.G51E	THBS3_uc010pfu.2_5'Flank|THBS3_uc001fix.3_5'Flank|THBS3_uc009wqi.3_5'Flank|THBS3_uc001fiy.3_5'Flank|THBS3_uc010pfv.2_5'Flank|THBS3_uc001fja.2_Non-coding_Transcript|THBS3_uc009wqj.1_5'UTR|MTX1_uc001fjc.3_Missense_Mutation_p.G51E	NM_002455	NP_002446	Q13505	MTX1_HUMAN	Homo sapiens metaxin 1 (MTX1), transcript variant 1, mRNA.	51					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCGCCTTCAGGGGTTCGGGGC	0.721000														12			8		0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58701016	58701016	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:58701016C>T	uc002iyt.2	+	1	839	c.607C>T	c.(607-609)Ccg>Tcg	p.P203S	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	203	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TCAGGATGACCCGAAGGATGA	0.507000														92			49		0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31577468	31577468	+	Missense_Mutation	SNP	C	T	T	rs142997193		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31577468C>T	uc002wyi.3	-	8	664	c.571G>A	c.(571-573)Gga>Aga	p.G191R		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	191					spermatogenesis			p.H190Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						ATGTAATCTCCGTGTATCATC	0.488000														57			13		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87656093	87656093	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:87656093C>T	uc003ydx.3	-	9	1112	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	CNGB3_uc010maj.3_Missense_Mutation_p.R217Q	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	355					signal transduction|visual perception	integral to membrane	cGMP binding	p.R355*(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCCAGTTGTTCGAATAACTCT	0.358000														63			30		0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	162683579	162683579	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:162683579G>A	uc021zhu.1	-	3	622	c.531C>T	c.(529-531)gaC>gaT	p.D177D	PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_5'UTR|PARK2_uc010kkd.3_Intron|PARK2_uc003qtx.4_Silent_p.D130D|PARK2_uc021zhs.1_Silent_p.D130D|PARK2_uc021zht.1_Intron|PARK2_uc003qty.4_Silent_p.D130D|PARK2_uc003qtz.4_Intron|PARK2_uc021zhv.1_Silent_p.D51D|PARK2_uc021zhw.1_5'UTR|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Silent_p.D130D|PARK2_uc010kke.1_Silent_p.D130D	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	130					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CTGGTGGTGAGTCCTTCCTGC	0.532000														37			27		0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37916554	37916554	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:37916554G>A	uc003tfn.3	+	11	1311	c.939G>A	c.(937-939)atG>atA	p.M313I		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	313					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TGAAAAGCATGAAATTAGAAA	0.343000														58			16		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732434	37732434	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:37732434G>A	uc003xkm.2	-	2	1277	c.1221C>T	c.(1219-1221)gaC>gaT	p.D407D	RAB11FIP1_uc003xkn.2_Silent_p.D407D|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Silent_p.D255D	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	407					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TTTCCCTGAGGTCCCCACTGA	0.562000														74			25		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6064119	6064119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:6064119C>T	uc010idb.1	-	9	1966	c.1480G>A	c.(1480-1482)Gag>Aag	p.E494K	JAKMIP1_uc010idc.1_Missense_Mutation_p.E309K|JAKMIP1_uc010idd.1_Splice_Site_p.E494_splice|JAKMIP1_uc003giu.4_Missense_Mutation_p.E494K|JAKMIP1_uc011bwc.2_Missense_Mutation_p.E329K|JAKMIP1_uc003giv.4_Missense_Mutation_p.E494K|JAKMIP1_uc010ide.3_Missense_Mutation_p.E494K	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	494	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.R493L(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCTGGTACTCCCGGGTCAGC	0.587000														74			26		0	0	1	0	0
LOC100507433	100507433	broad.mit.edu	37	19	38102515	38102515	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38102515C>T	uc002ogq.3	+	4	701	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	LOC100507433_uc002ogu.3_Missense_Mutation_p.R112C|LOC100507433_uc010efq.3_Missense_Mutation_p.R80C	NM_152606	NP_689819			Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA.									p.R112C(1)									TAAAACTCTTCGTCTGAAAGG	0.333000														194			25		0	0	1	0	0
HOXB13	10481	broad.mit.edu	37	17	46805893	46805893	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:46805893C>T	uc002ioa.3	-	0	219	c.63G>A	c.(61-63)gcG>gcA	p.A21A		NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	21					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GCCCCCCTCCCGCTCCCAGCA	0.657000														16			17		0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39978641	39978641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39978641G>A	uc002hxv.2	+	9	2055	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q	FKBP10_uc002hxw.1_Missense_Mutation_p.R341Q	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	577	EF-hand 2.				protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GACGAGGAGCGGGTCCACGAG	0.617000														8			8		0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2408546	2408546	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:2408546G>A	uc022brx.1	-	0	215	c.215C>T	c.(214-216)cCc>cTc	p.P72L	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.P72L|ZBED1_uc004cqg.2_Missense_Mutation_p.P72L|ZBED1_uc022brw.1_Missense_Mutation_p.P72L	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	72						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAATTCCTCGGGGTGGTTCTT	0.582000														96			30		0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51818291	51818291	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:51818291C>T	uc002lfj.4	+	8	1355	c.1287C>T	c.(1285-1287)acC>acT	p.T429T	POLI_uc010xds.2_Silent_p.T350T|POLI_uc002lfk.4_Silent_p.T326T|POLI_uc010dpg.3_Silent_p.T25T	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	429					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)		TTCACCTTACCCTTCTAAGTG	0.338000								DNA polymerases (catalytic subunits)						70			17		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367863	107367863	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107367863C>T	uc011lvq.2	-	0	46	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCAGAAAGTCCCTTCAGAAAA	0.368000														77			16		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203667416	203667416	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203667416C>T	uc001gzw.3	+	2	1222	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	ATP2B4_uc001gzv.3_Silent_p.L109L|ATP2B4_uc009xaq.3_Silent_p.L109L	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	109					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTTATCATCCTGGAGATTGC	0.483000														104			32		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56300731	56300731	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56300731G>A	uc010ygf.2	-	9	3259	c.2548C>T	c.(2548-2550)Caa>Taa	p.Q850*	NLRP11_uc002qlz.3_Nonsense_Mutation_p.Q697*|NLRP11_uc002qmb.3_Nonsense_Mutation_p.Q751*|NLRP11_uc002qmc.3_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	850							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GCAATATATTGACAGATATCG	0.418000														143			38		0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111861250	111861250	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111861250G>A	uc001eas.3	+	8	1022	c.865G>A	c.(865-867)Ggt>Agt	p.G289S	CHIA_uc001ear.3_Missense_Mutation_p.G181S|CHIA_uc001eaq.3_Missense_Mutation_p.G181S|CHIA_uc009wgc.3_Missense_Mutation_p.G181S|CHIA_uc001eat.3_Missense_Mutation_p.G128S|CHIA_uc001eav.3_Missense_Mutation_p.G128S|CHIA_uc001eau.3_Missense_Mutation_p.G128S|CHIA_uc009wgd.3_Missense_Mutation_p.G128S	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	289					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CTCTGGTGCTGGTCCTGCTGG	0.537000														103			60		0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73677285	73677285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:73677285G>A	uc001ouo.3	+	4	1346	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	199					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CTTTGAGAAGGAAGGGGACCA	0.562000														25			6		0	0	1	0	0
TAB2	23118	broad.mit.edu	37	6	149720247	149720247	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:149720247T>C	uc003qmj.3	+	5	2044	c.1866T>C	c.(1864-1866)caT>caC	p.H622H	TAB2_uc011eec.2_Silent_p.H590H|TAB2_uc010kib.2_Silent_p.H622H|TAB2_uc003qmk.4_Non-coding_Transcript|SUMO4_uc003qml.3_5'Flank	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA.	622					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|heart development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|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	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CAGGACCACATTTTAACCCCA	0.303000														22			15		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103230142	103230142	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:103230142C>T	uc022ajr.1	-	27	4206	c.4046G>A	c.(4045-4047)gGa>gAa	p.G1349E	RELN_uc022ajq.1_Missense_Mutation_p.G1349E|RELN_uc010liz.3_Missense_Mutation_p.G1349E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1349					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	p.G1349E(2)		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)		TCTGGAGTTTCCTTCGCATCC	0.478000														109			39		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269998	150269998	+	Silent	SNP	G	A	A	rs77995447		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150269998G>A	uc003whl.3	+	2	922	c.840G>A	c.(838-840)gaG>gaA	p.E280E	GIMAP4_uc011kuu.2_Silent_p.E141E|GIMAP4_uc011kuv.2_Silent_p.E294E	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	280							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAAATGGAGAAGAAACTAG	0.443000														50			22		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136093	55136093	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55136093C>T	uc010rif.2	+	0	734	c.734C>T	c.(733-735)tCc>tTc	p.S245F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATCCTGCTTTCCTATGGGGTC	0.428000														88			36		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47630061	47630061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:47630061C>T	uc001rpq.3	+	1	1740	c.1215C>T	c.(1213-1215)ccC>ccT	p.P405P	FAM113B_uc001rpn.3_Silent_p.P405P|FAM113B_uc021qxi.1_Silent_p.P405P	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	405	Pro-rich.						hydrolase activity	p.R404C(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					GGTATCGTCCCCGTGGCCCCT	0.592000														41			21		0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158142628	158142628	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:158142628G>A	uc002tzg.3	+	2	1978	c.1723G>A	c.(1723-1725)Gga>Aga	p.G575R	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	575	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CAGGCTGGCAGGAGCACAGAA	0.343000														66			20		0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72740483	72740483	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72740483G>A	uc010wrc.2	+	5	608	c.418G>A	c.(418-420)Gac>Aac	p.D140N	RAB37_uc002jlc.2_Missense_Mutation_p.D128N|RAB37_uc002jld.2_Missense_Mutation_p.D128N|RAB37_uc010dfu.3_Missense_Mutation_p.D128N|RAB37_uc010wrb.2_Missense_Mutation_p.D103N|RAB37_uc002jlk.3_Missense_Mutation_p.D135N|RAB37_uc010wre.2_Missense_Mutation_p.D98N	NM_001163989	NP_001157461	Q96AX2	RAB37_HUMAN	Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 4, mRNA.	135					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						TGCCCAGAGGGACGTGGTGAT	0.612000											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			15		0	0	1	0	0
SHB	6461	broad.mit.edu	37	9	37948651	37948651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:37948651C>T	uc004aax.3	-	4	1895	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	443	SH2.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		AGGGAGTAGTCATGCTTGCTG	0.627000														56			6		0	0	1	0	0
MRAP	56246	broad.mit.edu	37	21	33684189	33684189	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:33684189G>A	uc002ypj.3	+	4	588	c.401G>A	c.(400-402)gGg>gAg	p.G134E	MRAP_uc002ypk.3_Intron|URB1_uc002ypn.2_3'UTR|MRAP_uc011ado.2_Missense_Mutation_p.G75E|MRAP_uc002ypl.3_Missense_Mutation_p.G134E	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein (MRAP), transcript variant 1, mRNA.	134					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			endometrium(1)|large_intestine(2)|lung(3)	6						TTGCCCCTCGGGGGTTTCCAG	0.662000														44			21		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675256	100675256	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100675256C>T	uc003uxp.1	+	2	612	c.559C>T	c.(559-561)Cct>Tct	p.P187S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	187	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TATGAGCACACCTCTGACCAC	0.428000														277			57		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229917	21229917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21229917G>A	uc002red.3	-	25	9951	c.9823C>T	c.(9823-9825)Cca>Tca	p.P3275S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3275					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACTGCTTTTGGGAACACATAG	0.478000														49			16		0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	871741	871741	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:871741G>A	uc001ifs.1	-	10	1236	c.1195C>T	c.(1195-1197)Cct>Tct	p.P399S		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	399							RNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAAGTCAGAGGAGACGCCGCA	0.468000														36			7		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94134036	94134036	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:94134036G>A	uc001pet.2	-	0	550	c.378C>T	c.(376-378)ccC>ccT	p.P126P		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	126						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCAAAGTGAAGGGGGTGTTGA	0.577000														25			12		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108117950	108117950	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108117950G>A	uc003dxa.1	-	34	5018	c.4961C>T	c.(4960-4962)tCc>tTc	p.S1654F		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1654						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						CTGGCCCAGGGATTTGGTTGC	0.468000														61			25		0	0	1	0	0
RP11-165H20.1	149620	broad.mit.edu	37	1	111827633	111827633	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111827633G>A	uc009wgb.3	+	7		c.1706G>A								Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA.																		CAACTTTGGAGGTGCCATGGT	0.488000														6			3		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542468	55542468	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55542468G>A	uc003xsd.1	+	3	6174	c.6026G>A	c.(6025-6027)aGa>aAa	p.R2009K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	2009					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAACAAAAAAGAATTAACTTC	0.294000														81			43		0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62855838	62855838	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62855838G>A	uc002jey.2	-	10	5042	c.4426C>T	c.(4426-4428)Cag>Tag	p.Q1476*	LRRC37A3_uc010wqg.1_Nonsense_Mutation_p.Q594*|LRRC37A3_uc002jex.1_Nonsense_Mutation_p.Q453*|LRRC37A3_uc010wqf.1_Nonsense_Mutation_p.Q514*|LRRC37A3_uc010dek.1_Nonsense_Mutation_p.Q482*|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1476						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGGGTTAGCTGAATTTCAAAC	0.512000														328			119		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55139809	55139809	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:55139809C>T	uc003han.4	+	9	1801	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Silent_p.F384F|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	490	Ig-like C2-type 5.				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			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)	GTGTGACTTTCGCCAAAGTGG	0.532000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				105			6		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72943142	72943142	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72943142G>A	uc010wrr.2	+	5	1192	c.1192G>A	c.(1192-1194)Ggg>Agg	p.G398R	OTOP3_uc010wrq.2_Missense_Mutation_p.G380R	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	398						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGCCATACACGGGCTGGAGGA	0.607000														41			18		0	0	1	0	0
KIF12	113220	broad.mit.edu	37	9	116857374	116857374	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116857374G>A	uc004bif.3	-	7	872	c.634C>T	c.(634-636)Cct>Tct	p.P212S	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	345	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						AGAGTCTCAGGAAGGCACTGG	0.647000														47			10		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47925324	47925324	+	Silent	SNP	C	T	T	rs141356808		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:47925324C>T	uc003tny.2	-	17	3199	c.3165G>A	c.(3163-3165)gaG>gaA	p.E1055E		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1055	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCTGACTTCTCTCAGAGCGGC	0.587000														89			32		0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30433000	30433001	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30433000_30433001GG>AA	uc002wwt.1	-	0	420_421	c.345_346CC>TT	c.(343-348)acccgg>acTTgg	p.R116W		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	116					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA 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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CCTGTCTGCCGGGTGAAGCGGC	0.703000														32			10		0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114293996	114293996	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:114293996G>A	uc003vhb.3	+	9	1572	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.E425K|FOXP2_uc003vha.3_Missense_Mutation_p.E308K|FOXP2_uc011kmv.2_Missense_Mutation_p.E399K|FOXP2_uc011kmu.2_Missense_Mutation_p.E417K|FOXP2_uc010ljz.2_Missense_Mutation_p.E308K|FOXP2_uc003vhc.3_Missense_Mutation_p.E425K|FOXP2_uc003vhd.3_Missense_Mutation_p.E400K	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	400	Leucine-zipper.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TAAAGAACGCGAACGTCTTCA	0.393000														111			43		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48167728	48167728	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:48167728C>T	uc002efc.1	-	6	1344	c.998G>A	c.(997-999)aGa>aAa	p.R333K	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.R333K|ABCC12_uc010vgj.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	333	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CAGTAATTTTCTTTCCCTCCT	0.443000														45			19		0	0	1	0	0
IL36G	56300	broad.mit.edu	37	2	113736250	113736250	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113736250G>A	uc002tio.1	+	1	104	c.35G>A	c.(34-36)gGa>gAa	p.G12E	IL36G_uc010fkr.1_Missense_Mutation_p.G12E	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	Homo sapiens interleukin 36, gamma (IL36G), mRNA.	12					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GATGGTGGAGGAAGGGCCGTC	0.527000														52			23		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155287468	155287468	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155287468G>A	uc003inw.2	-	4	588	c.588C>T	c.(586-588)atC>atT	p.I196I	DCHS2_uc003inx.2_Silent_p.I790I	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	196	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAACATTGATGATCTCGGTGC	0.483000														44			16		0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233704569	233704569	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233704569C>T	uc002vtj.4	+	24	3107	c.2840C>T	c.(2839-2841)tCt>tTt	p.S947F	GIGYF2_uc002vti.4_Missense_Mutation_p.S926F|GIGYF2_uc002vtk.4_Missense_Mutation_p.S926F|GIGYF2_uc002vth.4_Missense_Mutation_p.S920F|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Missense_Mutation_p.S757F|GIGYF2_uc002vtq.4_Missense_Mutation_p.S259F	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	926	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTTCCTTCTTCTTCAACGTGG	0.453000														55			12		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167272581	167272581	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:167272581C>T	uc003fev.1	-	5	961	c.657G>A	c.(655-657)tgG>tgA	p.W219*	WDR49_uc003feu.1_Nonsense_Mutation_p.W44*|WDR49_uc011bpd.1_Nonsense_Mutation_p.W272*|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	219										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CATTGAAGTCCCATATCTTTA	0.318000														97			42		0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42807045	42807045	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:42807045G>A	uc011cps.2	-	3	557	c.459C>T	c.(457-459)gtC>gtT	p.V153V	SEPP1_uc011cpt.2_Silent_p.V123V|SEPP1_uc011cpu.2_Silent_p.V123V|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	123					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						AAAGAGTCCAGACATCTGTTT	0.323000														54			21		0	0	1	0	0
KCNJ11	3767	broad.mit.edu	37	11	17408585	17408585	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17408585C>T	uc001mna.3	-	0	1622	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	KCNJ11_uc001mnb.4_Missense_Mutation_p.D265N	NM_000525	NP_001159762	B4DWI4	B4DWI4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA.	265						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		AGGCTGTGGTCCTCATCAAGC	0.622000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			19		0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10465203	10465203	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10465203G>A	uc002moc.4	-	18	3078	c.2700C>T	c.(2698-2700)atC>atT	p.I900I	TYK2_uc010dxe.3_Silent_p.I715I	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	900	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCAGATCTCGGATCTTTTTCA	0.557000														73			34		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39879654	39879654	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:39879654C>T	uc001zkh.3	+	7	1406	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	THBS1_uc010bbi.3_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	409	TSP type-1 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GCGATAGCCTCAACAACCGAT	0.577000														32			8		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140258001	140258001	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:140258001G>A	uc010lnk.3	-	10	2421	c.1901C>T	c.(1900-1902)tCa>tTa	p.S634L	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.S634L|DENND2A_uc003vvw.3_Missense_Mutation_p.S634L|DENND2A_uc003vvx.3_Missense_Mutation_p.S634L	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	634	UDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TAAGACAAATGAGAATGTTTC	0.473000														47			18		0	0	1	0	0
IL11	3589	broad.mit.edu	37	19	55877404	55877404	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55877404C>T	uc002qks.1	-	4	707	c.571G>A	c.(571-573)Gga>Aga	p.G191R	FAM71E2_uc002qkr.2_5'Flank|FAM71E2_uc002qkq.2_5'Flank|IL11_uc010yfx.1_Missense_Mutation_p.G112R	NM_000641	NP_000632	P20809	IL11_HUMAN	Homo sapiens interleukin 11 (IL11), mRNA.	191					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)	AGCAGCAGTCCCCTCACGGCC	0.647000														11			7		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69640520	69640520	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:69640520C>T	uc010kak.3	+	2	1103	c.827C>T	c.(826-828)cCt>cTt	p.P276L	BAI3_uc003pev.4_Missense_Mutation_p.P276L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	276					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAAAGGGTCCCTCAGGAACAA	0.343000														49			8		0	0	1	0	0
RRP8	23378	broad.mit.edu	37	11	6624662	6624662	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6624662G>A	uc001med.3	-	0	219	c.71C>T	c.(70-72)cCt>cTt	p.P24L	ILK_uc001mee.3_5'Flank|ILK_uc001mef.3_5'Flank|ILK_uc010rap.2_5'Flank|ILK_uc010raq.2_5'Flank|ILK_uc001meh.3_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	Homo sapiens ribosomal RNA processing 8, methyltransferase, homolog (yeast) (RRP8), mRNA.	24					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	S-adenosylmethionine-dependent methyltransferase activity|methylated histone residue binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CGCAGGCGGAGGTCGTGAGAT	0.667000														11			4		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6488466	6488466	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6488466G>A	uc001amy.3	+	1	643	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	159					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GCTTCTCGTCGAGCACTACCC	0.642000														51			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9017436	9017436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9017436C>T	uc002mkp.3	-	25	38092	c.37888G>A	c.(37888-37890)Gag>Aag	p.E12630K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12632	SEA 4.				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						TATAGCTGCTCCCTGTCCACT	0.582000														180			17		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955761	18955761	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:18955761G>A	uc001mpg.3	-	0	789	c.571C>T	c.(571-573)Ctc>Ttc	p.L191F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	191					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GACCCACAGAGAACCACACAT	0.507000														52			21		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18770674	18770674	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:18770674C>T	uc003zne.4	+	16	2444	c.2292C>T	c.(2290-2292)ttC>ttT	p.F764F		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	764						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATGGCAGCTTCCTGGAGCTTC	0.527000														25			6		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101190431	101190431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:101190431G>A	uc001dti.3	+	3	1134	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	VCAM1_uc010ouj.2_Missense_Mutation_p.E243K|VCAM1_uc001dtj.3_Missense_Mutation_p.E305K	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	305	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AAAAGAGGTGGAATTAATTGT	0.373000														62			10		0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39642774	39642774	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39642774G>A	uc002hwt.3	-	6	1258	c.1258C>T	c.(1258-1260)Cct>Tct	p.P420S		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	420	Tail.					intermediate filament	protein binding|structural constituent of epidermis	p.P420R(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GGGACAGAAGGAACTCTAATA	0.597000														9			8		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207651394	207651394	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207651394C>T	uc001hfw.3	+	14	3009	c.2890C>T	c.(2890-2892)Ccc>Tcc	p.P964S	CR2_uc001hfv.3_Missense_Mutation_p.P1023S|CR2_uc009xch.3_Missense_Mutation_p.P902S	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	964	Sushi 15.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATGGAACCCTCCCCTGGCGGT	0.542000														31			5		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26242107	26242107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26242107C>T	uc003abz.1	+	18	3659	c.3409C>T	c.(3409-3411)Cct>Tct	p.P1137S	MYO18B_uc003aca.1_Missense_Mutation_p.P1018S|MYO18B_uc010guy.1_Missense_Mutation_p.P1019S|MYO18B_uc010guz.1_Missense_Mutation_p.P1018S|MYO18B_uc011aka.1_Missense_Mutation_p.P291S|MYO18B_uc011akb.1_Missense_Mutation_p.P650S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1137	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						GGCCAAGCTGCCTCCTGTGTG	0.652000														18			5		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87373167	87373167	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:87373167C>T	uc001kdl.1	-	14	2699	c.2598G>A	c.(2596-2598)aaG>aaA	p.K866K	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Silent_p.K437K	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	866						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGCTGACCTCCTTGGGGGTCT	0.612000										Multiple Myeloma(13;0.14)				23			9		0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24578598	24578598	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:24578598C>T	uc002dmh.3	+	14	2764	c.1724C>T	c.(1723-1725)cCt>cTt	p.P575L	RBBP6_uc010vcb.1_Missense_Mutation_p.P442L|RBBP6_uc002dmi.3_Missense_Mutation_p.P575L|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.P442L	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	575					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		cttcctctccctccgggtgtt	0.577000														179			45		0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74901259	74901259	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74901259C>T	uc002jti.3	+	5	835	c.732C>T	c.(730-732)ttC>ttT	p.F244F	MGAT5B_uc002jth.3_Silent_p.F233F	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	233						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGCAGTTTTCCGAAGCAACC	0.637000														19			9		0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23543378	23543378	+	Missense_Mutation	SNP	T	G	G	rs1821843		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:23543378T>G	uc002nre.3	-	3	2516	c.2403A>C	c.(2401-2403)gaA>gaC	p.E801D	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.E769D	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	801						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGCCACATTCTTCACATTTGT	0.393000														106			27		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106675690	106675690	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106675690G>A	uc001kyi.1	+	3	1022	c.795_splice	c.e3+1	p.K265_splice		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	265						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACAAAAGGAAGGTAAGAGACT	0.453000														63			20		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2614040	2614040	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2614040G>A	uc009zdu.1	+	7	1459	c.1146G>A	c.(1144-1146)tgG>tgA	p.W382*	CACNA1C_uc001qkc.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qjz.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkd.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qke.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkf.2_Nonsense_Mutation_p.W382*|CACNA1C_uc009zdw.1_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkg.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkh.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkl.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkj.2_Intron|CACNA1C_uc001qkk.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Intron|CACNA1C_uc001qko.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkp.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkq.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qku.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkr.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qks.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkt.2_Nonsense_Mutation_p.W382*|CACNA1C_uc009zdv.1_Nonsense_Mutation_p.W379*|CACNA1C_uc001qkb.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc009zdy.1_Intron|CACNA1C_uc001qkv.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	382					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACTGGCCCTGGATCTATTTTG	0.498000														29			8		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505206	37505206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:37505206G>A	uc021ppc.1	+	31	2898	c.2799G>A	c.(2797-2799)atG>atA	p.M933I	ANKRD30A_uc001iza.1_Missense_Mutation_p.M933I	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	989						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAGGAAAAATGGAACAAATGA	0.333000														69			23		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34077940	34077940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34077940G>A	uc001zhi.3	+	65	9416	c.9346G>A	c.(9346-9348)Gac>Aac	p.D3116N	RYR3_uc010bar.3_Missense_Mutation_p.D3116N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3116					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAATCAACGACCTGGCCGA	0.552000														84			29		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28710500	28710500	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28710500C>T	uc002kwn.3	-	15	2924	c.2662G>A	c.(2662-2664)Gca>Aca	p.A888T	DSC1_uc002kwm.3_3'UTR|BC042382_uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	888					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CATGTCTTTGCTAATGTCCTA	0.428000														185			38		0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72540995	72540995	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72540995G>A	uc002jky.1	-	1	514	c.153C>T	c.(151-153)acC>acT	p.T51T		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	51	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						ATTTGTTGAGGGTCCTGTGTT	0.542000														71			40		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111474509	111474509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:111474509C>T	uc003iab.4	+	17	2882	c.2540C>T	c.(2539-2541)aCt>aTt	p.T847I		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	847					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTTATTAAAACTCAGGATGTG	0.368000														132			29		0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88173915	88173915	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:88173915G>A	uc003plv.3	+	12	1939	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	SLC35A1_uc003plx.3_Non-coding_Transcript|C6orf165_uc003plw.3_Missense_Mutation_p.E418K|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	606										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGGAAAGAGCGAAATCACCGA	0.458000														31			17		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128677123	128677123	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:128677123G>A	uc010sbu.2	+	6	1113	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	FLI1_uc010sbt.2_Missense_Mutation_p.R64Q|FLI1_uc010sbv.2_Missense_Mutation_p.R224Q|FLI1_uc009zci.3_Missense_Mutation_p.R191Q	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	257					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ACAGAGCAACGGCCCCAGCCA	0.512000			T	EWSR1	Ewing sarcoma									19			7		0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50155850	50155850	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:50155850C>T	uc003cyg.3	+	24	2584	c.2409C>T	c.(2407-2409)gtC>gtT	p.V803V	RBM5_uc011bdk.2_Silent_p.V631V|RBM5_uc003cyh.3_Silent_p.V260V|AK125500_uc003cyi.1_Intron	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	803	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGATGCTGTCCGGAAAGCCA	0.542000														41			6		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003933	122003933	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122003933G>A	uc003eew.4	+	6	3600	c.3162G>A	c.(3160-3162)gtG>gtA	p.V1054V	CASR_uc003eev.4_Silent_p.V1044V	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	1044					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)	GGCCAGAGGTGGAGGACCCTG	0.547000														92			27		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551777	100551777	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100551777C>T	uc003uxl.1	+	0	1028	c.228C>T	c.(226-228)atC>atT	p.I76I	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;									p.T76T(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGAGCACGATCGTGTCAACAT	0.473000														517			42		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215807923	215807923	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:215807923G>A	uc001hku.1	-	69	15562	c.15175C>T	c.(15175-15177)Ctg>Ttg	p.L5059L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	5059					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)		ATCAGGGACAGAAAAATGGCC	0.438000										HNSCC(13;0.011)				113			7		0	0	1	0	0
FAM53A	152877	broad.mit.edu	37	4	1659150	1659150	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:1659150G>A	uc021xkk.1	-	2	319	c.121C>T	c.(121-123)Cct>Tct	p.P41S	FAM53A_uc010ibw.3_Missense_Mutation_p.P41S|FAM53A_uc021xkl.1_Missense_Mutation_p.P41S	NM_001013622	NP_001167541	Q6NSI3	FA53A_HUMAN	Homo sapiens family with sequence similarity 53, member A (FAM53A), transcript variant 1, mRNA.	41						nucleus		p.P41S(2)		breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			AGCTCCAAAGGGAACAGACGA	0.552000														20			4		0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33603471	33603471	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:33603471C>T	uc002nug.1	+	12	2158	c.1844C>T	c.(1843-1845)cCt>cTt	p.P615L	GPATCH1_uc002nuh.1_5'Flank	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	615						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GAGTGGCACCCTGACAAGCTT	0.413000														58			28		0	0	1	0	0
KRR1	11103	broad.mit.edu	37	12	75897712	75897712	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:75897712G>A	uc001sxt.3	-	6	844	c.803C>T	c.(802-804)cCa>cTa	p.P268L	KRR1_uc009zsc.3_Intron	NM_007043	NP_008974	Q13601	KRR1_HUMAN	Homo sapiens KRR1, small subunit (SSU) processome component, homolog (yeast) (KRR1), mRNA.	268	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TGGTGGGAATGGCGTATATTC	0.343000														204			24		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538718	55538718	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55538718G>A	uc003xsd.1	+	3	2424	c.2276G>A	c.(2275-2277)aGa>aAa	p.R759K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	759					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AATTTCCATAGAAATAAATTA	0.299000														29			9		0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52353881	52353881	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:52353881C>T	uc003joy.3	+	9	1266	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Nonsense_Mutation_p.Q299*|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	375					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AGACAACTTTCAGATGGAAAT	0.363000														69			21		0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121942288	121942288	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:121942288C>T	uc003vkd.3	-	3	1265	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	FEZF1_uc003vkc.3_Silent_p.K347K|LOC154860_uc010lko.2_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	397					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TGAAAGGCTTCTTGTCGTTGT	0.562000														135			50		0	0	1	0	0
TUBG1	7283	broad.mit.edu	37	17	40766576	40766576	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:40766576C>T	uc002ian.3	+	9	1457	c.1059C>T	c.(1057-1059)ccC>ccT	p.P353P		NM_001070	NP_001061	P23258	TBG1_HUMAN	Homo sapiens tubulin, gamma 1 (TUBG1), mRNA.	353					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CGTGGGGCCCCGCCAGCATCC	0.652000														40			40		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61747817	61747817	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:61747817C>T	uc002eog.2	-	9	2537	c.1582G>A	c.(1582-1584)Gga>Aga	p.G528R		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	528	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AAATAATGTCCGTTTTTGGGA	0.378000														35			44		0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723505	48723505	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48723505C>T	uc001rrm.3	+	0	743	c.431C>T	c.(430-432)cCc>cTc	p.P144L		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	144	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						ACGCGCGCTCCCTGGAGGACC	0.721000														12			5		0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49657924	49657924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49657924C>T	uc002pmv.3	-	0	758	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	191	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		tcttcTCCTTCATCATCTTCC	0.567000														54			29		0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25718530	25718530	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:25718530C>T	uc001bkf.3	-	3	675	c.589G>A	c.(589-591)Gat>Aat	p.D197N	RHCE_uc001bkg.3_Missense_Mutation_p.D197N|RHCE_uc001bkh.3_Intron|RHCE_uc001bki.3_Intron|RHCE_uc001bkj.3_Missense_Mutation_p.D181N	NM_020485	NP_065231	P18577	RHCE_HUMAN	Homo sapiens Rh blood group, CcEe antigens (RHCE), transcript variant 1, mRNA.	197						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		TGATCATTATCCTCCGTTCCC	0.537000														104			39		0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724711	49724711	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49724711C>T	uc009zlh.3	+	12	2250	c.2083C>T	c.(2083-2085)Cca>Tca	p.P695S	TROAP_uc001rtx.4_Missense_Mutation_p.P695S	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	695					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TTTGAGACCCCCAGCAGGCCA	0.607000														163			44		0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045373	142045373	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142045373G>A	uc003vxp.4	+	0	120	c.11G>A	c.(10-12)aGg>aAg	p.R4K	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ATGGGCTGCAGGCTGCTCTGC	0.567000														163			20		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43250649	43250649	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43250649C>T	uc003ouq.1	+	13	2450	c.2171C>T	c.(2170-2172)cCt>cTt	p.P724L	TTBK1_uc021yzs.1_Missense_Mutation_p.P12L	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	724						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCACTGGCTCCTGTTCAGCCT	0.587000														40			28		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46771680	46771680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:46771680G>A	uc002eei.4	-	2	1060	c.944C>T	c.(943-945)cCt>cTt	p.P315L	MYLK3_uc010vge.2_Intron|MYLK3_uc002eej.1_5'UTR	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	315					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CAGCCCTGGAGGCCCTGGGCA	0.657000														51			30		0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114058095	114058095	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:114058095G>A	uc003ebi.3	-	4	2163	c.1983C>T	c.(1981-1983)tcC>tcT	p.S661S	ZBTB20_uc003ebj.3_Silent_p.S588S|ZBTB20_uc010hqp.3_Silent_p.S588S|ZBTB20_uc003ebk.3_Silent_p.S588S|ZBTB20_uc003ebl.3_Silent_p.S588S|ZBTB20_uc003ebm.3_Silent_p.S588S|ZBTB20_uc003ebn.3_Silent_p.S588S	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGCACTCGTAGGACTTCTCTC	0.577000														201			19		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211523399	211523399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:211523399G>A	uc010fur.3	+	31	3843	c.3761G>A	c.(3760-3762)gGa>gAa	p.G1254E	CPS1_uc002vee.4_Missense_Mutation_p.G1248E|CPS1_uc010fus.3_Missense_Mutation_p.G797E	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1248	ATP-grasp 2.			I -> N (in Ref. 1; BAA14328).	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			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)		CTTGTCAAAGGAAATGATGTC	0.433000														62			7		0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51330994	51330994	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51330994C>T	uc002ptl.3	-	1	152	c.121G>A	c.(121-123)Gag>Aag	p.E41K	KLK15_uc002ptm.3_Missense_Mutation_p.E41K|KLK15_uc002ptn.3_Missense_Mutation_p.E41K|KLK15_uc002pto.3_Missense_Mutation_p.E40K|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.E40K|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	41	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CGTCCACGCTCGTAGAGAGCC	0.607000														31			17		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7565753	7565753	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7565753C>T	uc003mxp.1	+	7	1218	c.939_splice	c.e7+1	p.S313_splice	DSP_uc003mxq.1_Splice_Site_p.S313_splice|DSP_uc021yle.1_Splice_Site_p.S313_splice	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	313	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		AGGCCTTCTCCGTAAGTTCAC	0.517000														45			15		0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215440421	215440421	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:215440421G>A	uc002vet.2	+	3	676	c.546G>A	c.(544-546)acG>acA	p.T182T	VWC2L_uc010zjl.1_Missense_Mutation_p.R139Q	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	182						extracellular region		p.T182M(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						CAGGAACGACGATAATTCCAG	0.463000														146			33		0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8196821	8196821	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:8196821C>T	uc003sro.4	-	7	865	c.729G>A	c.(727-729)gaG>gaA	p.E243E	ICA1_uc010ktr.3_Silent_p.E243E|ICA1_uc003srm.3_Silent_p.E243E|ICA1_uc003srn.4_Silent_p.E169E|ICA1_uc003srq.3_Silent_p.E243E|ICA1_uc003srr.3_Silent_p.E242E|ICA1_uc010kts.3_Intron|ICA1_uc003srs.1_Silent_p.E243E	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	243	AH.				neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GAGAAGTTTTCTCCCAAAAAT	0.418000														65			29		0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153174589	153174589	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:153174589G>A	uc004fjk.2	-	20	2600	c.2542C>T	c.(2542-2544)Ccc>Tcc	p.P848S	ARHGAP4_uc011mzf.2_Missense_Mutation_p.P825S|ARHGAP4_uc004fjl.2_Missense_Mutation_p.P888S|ARHGAP4_uc010nup.2_Non-coding_Transcript	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	848					Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTCCAGAGGGTCCCATGGCC	0.642000														9			19		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33895456	33895456	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:33895456C>T	uc001zhi.3	+	17	2125	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	RYR3_uc010bar.3_Silent_p.A685A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	685	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.W684L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGGCTGGGCCTCTTCTTCAG	0.567000														183			61		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48461033	48461033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48461033G>A	uc003csw.2	-	10	2932	c.2662C>T	c.(2662-2664)Ccg>Tcg	p.P888S	PLXNB1_uc003csu.2_Missense_Mutation_p.P705S|PLXNB1_uc003csx.2_Missense_Mutation_p.P888S|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	888					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	p.L887P(1)|p.P888Q(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGCTGGACGGGAGGATGAGG	0.672000														31			11		0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76828970	76828970	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:76828970C>T	uc003ugb.3	-	0	181	c.141G>A	c.(139-141)ggG>ggA	p.G47G	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	47					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CTTCGCATTTCCCTCTGCTTT	0.493000														121			41		0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55339669	55339669	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55339669G>A	uc010rih.2	+	0	66	c.66G>A	c.(64-66)aaG>aaA	p.K22K		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTTTTTGGAAGAAAATAGTGT	0.398000														139			18		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178562985	178562985	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178562985C>T	uc003mjw.3	-	12	2112	c.2010G>A	c.(2008-2010)atG>atA	p.M670I		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	670	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCATGCGCTTCATGGACACCA	0.647000														106			8		0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24909430	24909430	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:24909430G>A	uc002dmu.3	+	10	1237	c.1006_splice	c.e10+1	p.D336_splice	SLC5A11_uc002dms.3_Splice_Site_p.D272_splice|SLC5A11_uc010vcd.2_Splice_Site_p.D301_splice|SLC5A11_uc002dmt.3_Splice_Site_p.R203_splice|SLC5A11_uc010vce.2_Splice_Site_p.D266_splice|SLC5A11_uc010bxt.3_Splice_Site_p.D272_splice	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	336					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CCTCTTCCCAGGTGAGAACAC	0.493000														65			6		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112786	59112786	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:59112786C>T	uc001xdw.3	+	3	1609	c.1445C>T	c.(1444-1446)tCa>tTa	p.S482L	DACT1_uc010trv.2_Missense_Mutation_p.S201L|DACT1_uc001xdx.3_Missense_Mutation_p.S445L|DACT1_uc010trw.2_Missense_Mutation_p.S201L	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	482					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCTCAGCTCTCAGGGGCCTCT	0.567000														106			42		0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142741799	142741799	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:142741799C>T	uc003evh.1	+	11	1222	c.1123C>T	c.(1123-1125)Ccc>Tcc	p.P375S	U2SURP_uc003evi.1_5'UTR|U2SURP_uc011bnj.1_Missense_Mutation_p.P375S|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.P374S|U2SURP_uc003evl.1_5'Flank	NM_001080415	NP_001073884	O15042	SR140_HUMAN	Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.	375	Pro-rich.				RNA processing	nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ACATACGCTTCCCCCACCTCC	0.433000														24			4		0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35556465	35556465	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35556465G>A	uc002nxq.2	+	11	1175	c.930G>A	c.(928-930)caG>caA	p.Q310Q	HPN_uc002nxr.2_Silent_p.Q310Q|HPN_uc010xsh.1_Silent_p.Q279Q|HPN_uc002nxt.1_Silent_p.Q194Q|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	310	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GGGTACTCCAGGAGGCTCGAG	0.612000														29			17		0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6309836	6309836	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6309836G>A	uc002mel.2	-	3	438	c.360C>T	c.(358-360)ttC>ttT	p.F120F		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	120						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CCAGGCGGATGAACTGGGACC	0.617000														38			15		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19758335	19758335	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19758335G>A	uc002nnh.4	-	20	2824	c.2796C>T	c.(2794-2796)gaC>gaT	p.D932D	ATP13A1_uc002nne.3_Silent_p.D72D|ATP13A1_uc002nnf.4_Silent_p.D300D|ATP13A1_uc002nng.3_Silent_p.D814D	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	932					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGCTCAGGCGGTCCTGCAGGG	0.637000														20			10		0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25043589	25043589	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:25043589C>T	uc001wpq.3	-	3	493	c.456G>A	c.(454-456)atG>atA	p.M152I		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	152	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TTCCCCTCCTCATGCTGACCC	0.617000														106			40		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140735501	140735502	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140735501_140735502CC>TT	uc003ljq.2	+	0	734_735	c.734_735CC>TT	c.(733-735)ccc>cTT	p.P245L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.P245L	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	245	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)			TTCACTCAGCCCGAGTACCACG	0.535000														26			15		0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159571	18159571	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:18159571C>T	uc021qek.1	+	0	822	c.822C>T	c.(820-822)ttC>ttT	p.F274F	MRGPRX3_uc001mnu.3_Silent_p.F274F	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	274						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F274Y(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTTACTTCTTCGTGGGCTCCT	0.512000														105			48		0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48343035	48343035	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:48343035C>T	uc002phq.4	+	3	915	c.711C>T	c.(709-711)ctC>ctT	p.L237L		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	237					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TTAGCCCCCTCTCTGGCCCCT	0.652000														250			23		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103569	53103569	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:53103569G>A	uc003tpz.3	+	0	221	c.205G>A	c.(205-207)Ggg>Agg	p.G69R		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	69								p.W68R(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTTCCAGTGGGGGCGCCCGGT	0.706000														64			6		0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584330	30584330	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30584330C>T	uc002wxe.3	+	2	984	c.810C>T	c.(808-810)ctC>ctT	p.L270L		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	270						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCGCCTCCCTCGTGTCTCTGG	0.711000														16			7		0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109271289	109271289	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:109271289G>A	uc001dvx.3	+	7	1405	c.1405G>A	c.(1405-1407)Gat>Aat	p.D469N	FNDC7_uc010ova.2_Missense_Mutation_p.D236N	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	470	Fibronectin type-III 6.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TGTTTCAAGGGATGCATTCTC	0.418000														53			20		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125872343	125872343	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:125872343G>A	uc003eim.1	-	6	992	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.R167W|ALDH1L1_uc003eio.3_5'UTR|ALDH1L1_uc010hsf.1_Missense_Mutation_p.R294W|ALDH1L1_uc003eip.1_Missense_Mutation_p.R175W|ALDH1L1_uc011bkj.1_Missense_Mutation_p.R93W	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	268					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACCCCTGGCCGATGGGCTCCT	0.542000														71			31		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760906	15760906	+	Silent	SNP	C	T	T	rs28371480	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15760906C>T	uc010xok.2	+	6	881	c.831C>T	c.(829-831)acC>acT	p.T277T	CYP4F3_uc010xol.2_Silent_p.T277T|CYP4F3_uc002nbj.3_Silent_p.T277T|CYP4F3_uc010xom.2_Silent_p.T128T|CYP4F3_uc002nbk.3_Silent_p.T277T|CYP4F3_uc010xon.2_5'UTR	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	277					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.R276H(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GGCGCCGCACCCTCCCTAGCC	0.582000														134			20		0	0	1	0	0
NRSN1	140767	broad.mit.edu	37	6	24134672	24134672	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:24134672C>T	uc010jpq.1	+	2	354	c.117C>T	c.(115-117)gcC>gcT	p.A39A		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	Homo sapiens neurensin 1 (NRSN1), mRNA.	39					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						ACTGTACAGCCTCAATTTGGG	0.507000														51			28		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299405	58299405	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:58299405G>A	uc001vhq.1	+	3	4349	c.3457G>A	c.(3457-3459)Gac>Aac	p.D1153N	PCDH17_uc010aec.1_Missense_Mutation_p.D1152N|PCDH17_uc001vhr.1_Missense_Mutation_p.D242N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1153					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCGGGGAAACGACCCTGTGGC	0.448000														119			38		0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125315672	125315672	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125315672C>T	uc011lyx.2	+	0	224	c.224C>T	c.(223-225)cCc>cTc	p.P75L		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTCCATACTCCCATGTACTTC	0.507000														203			29		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110489536	110489536	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110489536C>T	uc003yne.3	+	52	9104	c.9000C>T	c.(8998-9000)ttC>ttT	p.F3000F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3000					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TTATTAATTTCCAAGCTTACT	0.423000										HNSCC(38;0.096)				55			16		0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55432786	55432786	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55432786C>T	uc010rik.2	+	0	144	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TAACTATTATCACAAGTCAGA	0.408000														219			23		0	0	1	0	0
MAB21L3	126868	broad.mit.edu	37	1	116670241	116670241	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:116670241C>T	uc001egc.1	+	4	901	c.636C>T	c.(634-636)tcC>tcT	p.S212S		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.	212										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						GCTGGCCTTCCCAAGAGAGAG	0.587000														25			9		0	0	1	0	0
PRR23A	729627	broad.mit.edu	37	3	138724491	138724491	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:138724491G>A	uc011bms.2	-	0	620	c.620C>T	c.(619-621)tCa>tTa	p.S207L		NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN	Homo sapiens proline rich 23A (PRR23A), mRNA.	207	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						GTGTCCCTCTGAACTGGGGTT	0.652000														14			5		0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87329760	87329760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87329760G>A	uc003ujb.3	+	3	724	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	ABCB1_uc003uiz.2_Intron|ABCB1_uc003uja.2_Intron|ABCB1_uc010lei.2_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.E88K|RUNDC3B_uc011khe.2_Missense_Mutation_p.E88K|RUNDC3B_uc003ujc.3_Missense_Mutation_p.E88K|RUNDC3B_uc003ujd.3_Missense_Mutation_p.E10K	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	105	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					GTTTGGTTATGAAAGTCCTCG	0.343000														35			12		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533801	31533801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31533801G>A	uc003aka.3	-	3	1090	c.961C>T	c.(961-963)Ccc>Tcc	p.P321S		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	321					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	p.P321H(1)		large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GCTTTGCTGGGGCGCTTGGAC	0.652000														162			69		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169697034	169697034	+	Silent	SNP	C	T	T	rs147467969	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169697034C>T	uc001ggm.4	-	8	1471	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	438	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TCACCAAACCCTTCGGGGGCT	0.488000														92			28		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6527210	6527210	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:6527210C>T	uc001iji.1	-	8	1105	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	PRKCQ_uc001ijj.2_Missense_Mutation_p.E308K|PRKCQ_uc009xim.2_Missense_Mutation_p.E308K|PRKCQ_uc009xin.2_Missense_Mutation_p.E272K|PRKCQ_uc010qax.2_Missense_Mutation_p.E183K	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	308					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						AAGATCTGTTCAGTATCTCTT	0.507000														145			36		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566641	5566641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5566641G>A	uc010qzh.2	-	0	113	c.113C>T	c.(112-114)cCc>cTc	p.P38L	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATACAGAAGGGAATTCCAAT	0.458000														58			29		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107706335	107706335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107706335G>A	uc010ljo.1	-	20	2792	c.2708C>T	c.(2707-2709)tCt>tTt	p.S903F	LAMB4_uc003vey.2_Missense_Mutation_p.S903F|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	903	Laminin EGF-like 8.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGTCCTGAAGAAGGATTTCC	0.433000														118			8		0	0	1	0	0
ZNF34	80778	broad.mit.edu	37	8	145999601	145999601	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145999601G>A	uc003zdy.4	-	5	835	c.733C>T	c.(733-735)Cct>Tct	p.P245S	ZNF34_uc010mgb.3_Missense_Mutation_p.P142S|ZNF34_uc003zdx.4_Missense_Mutation_p.P224S	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	Homo sapiens zinc finger protein 34 (ZNF34), mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		TTCCCAGTAGGAATTTTCTGA	0.403000														25			12		0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49378993	49378993	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49378993C>T	uc002pky.4	+	2	2057	c.1788C>T	c.(1786-1788)atC>atT	p.I596I		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	596					apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	p.R595H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CACGCCGCATCACCCAGGCCC	0.726000														187			79		0	0	1	0	0
MYOG	4656	broad.mit.edu	37	1	203054621	203054621	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203054621C>T	uc001gzd.3	-	0	757	c.469G>A	c.(469-471)Ggg>Agg	p.G157R		NM_002479	NP_002470	P15173	MYOG_HUMAN	Homo sapiens myogenin (myogenic factor 4) (MYOG), mRNA.	157					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CCACTTACCCCTGGCTGGGGC	0.697000														18			3		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106848899	106848899	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106848899G>A	uc021ser.1	-	470		c.14163C>T								Parts of antibodies, mostly variable regions.																		GGTACTAAAGGTGAATCCAGA	0.507000														29			11		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38802355	38802355	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38802355G>A	uc021yzh.1	+	32	4412	c.4303_splice	c.e32-1	p.E1435_splice	DNAH8_uc003ooe.2_Splice_Site_p.E1218_splice	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCCTTACAGGAAGGACCTAT	0.323000														105			39		0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180348073	180348073	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:180348073G>A	uc002unn.4	-	5	1200	c.596C>T	c.(595-597)cCt>cTt	p.P199L	ZNF385B_uc002unj.3_Missense_Mutation_p.P97L|ZNF385B_uc002unl.3_Missense_Mutation_p.P96L|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Missense_Mutation_p.P123L	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	199						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTCCTTGGAAGGAACCATTTT	0.458000														77			5		0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27529141	27529141	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27529141G>A	uc002rjo.3	+	6	1230	c.927G>A	c.(925-927)atG>atA	p.M309I	TRIM54_uc002rjn.3_Missense_Mutation_p.M351I	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	309	COS.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGAGAGCATGGAGCAATTCA	0.652000														51			17		0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198724	15198724	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15198724C>T	uc010xoe.2	+	0	848	c.848C>T	c.(847-849)cCc>cTc	p.P283L		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I282F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						GTGTTCATCCCCATGCTCAAC	0.562000														73			14		0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68571514	68571514	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:68571514G>A	uc001oog.4	-	4	679	c.509C>T	c.(508-510)tCg>tTg	p.S170L	CPT1A_uc001oof.4_Missense_Mutation_p.S170L|5S_rRNA_uc021qmn.1_5'Flank	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	170					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GCGAGGCAGCGATGTCTGGAA	0.498000														56			25		0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91433170	91433170	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:91433170G>A	uc002bpv.3	+	7	1146	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	FES_uc010uqj.2_Missense_Mutation_p.E285K|FES_uc010uqk.2_Missense_Mutation_p.E325K|FES_uc002bpx.3_Missense_Mutation_p.E343K|FES_uc002bpy.3_Missense_Mutation_p.E285K|FES_uc010bny.3_Missense_Mutation_p.E285K	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	343					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GAATGAAGAGGAGAACACCCA	0.647000														98			25		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114279872	114279872	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:114279872C>T	uc003ibe.4	+	37	10198	c.10098C>T	c.(10096-10098)acC>acT	p.T3366T	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.T3381T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3333					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTAGACACCTCTGTCCAGA	0.458000														128			13		0	0	1	0	0
MSGN1	343930	broad.mit.edu	37	2	17997965	17997965	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:17997965C>T	uc010yjt.2	+	0	180	c.180C>T	c.(178-180)ccC>ccT	p.P60P		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	Homo sapiens mesogenin 1 (MSGN1), mRNA.	60					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTCTTCTCCCTGTCCAGCTG	0.657000														90			8		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13071780	13071780	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:13071780G>A	uc002wod.1	+	4	946	c.657G>A	c.(655-657)ctG>ctA	p.L219L		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	219					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CTAAGTTCCTGAATGTGGAAG	0.428000														137			15		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671604	39671604	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:39671604C>T	uc021wjc.1	+	0	421	c.421C>T	c.(421-423)Cat>Tat	p.H141Y	KCNJ15_uc002ywv.3_Missense_Mutation_p.H141Y|KCNJ15_uc002yww.3_Missense_Mutation_p.H141Y|KCNJ15_uc002ywx.3_Missense_Mutation_p.H141Y	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	141					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GGAATGTCCTCATGCCATCTT	0.502000														86			30		0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15881966	15881966	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15881966G>A	uc010xor.1	-	3	431	c.411C>T	c.(409-411)ctC>ctT	p.L137L	CYP4F24P_uc002nbo.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		CGTCATGGGAGAGGTAATACA	0.557000														72			30		0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891435	6891435	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6891435C>T	uc001meu.1	+	0	450	c.450C>T	c.(448-450)ctC>ctT	p.L150L		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W149L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCACATGGCTCTTCAGTTTTC	0.532000														153			62		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105965741	105965741	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105965741C>T	uc001kxw.3	-	6	1059	c.943G>A	c.(943-945)Ggc>Agc	p.G315S	WDR96_uc001kxx.4_Missense_Mutation_p.G316S|WDR96_uc001kxy.1_Missense_Mutation_p.G316S|WDR96_uc001kxz.3_Missense_Mutation_p.G316S	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	315								p.G315G(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCAGCACGCCCTCCTTCTGA	0.338000														47			12		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57358377	57358377	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:57358377G>A	uc003xsz.2	-	0	217	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L	AX747062_uc003xtb.1_Non-coding_Transcript|PENK_uc003xta.3_Silent_p.L46L|PENK_uc010lym.3_Silent_p.L46L	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	46					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			ACACTCACCAGGAAGTTGATG	0.687000														91			8		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630995	74630995	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74630995G>A	uc002axt.2	-	7	1506	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	CYP11A1_uc002axs.2_Missense_Mutation_p.R293W|CYP11A1_uc010bjm.1_Missense_Mutation_p.R293W|CYP11A1_uc010bjn.1_Non-coding_Transcript	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	451					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	p.R451Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CCCAAGTTCCGGAAGTAGGTG	0.557000														102			85		0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45839446	45839446	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:45839446A>C	uc010zxy.1	-	22	3768	c.3686T>G	c.(3685-3687)cTc>cGc	p.L1229R	ZMYND8_uc010ghq.1_Missense_Mutation_p.S811A|ZMYND8_uc010ghr.1_Missense_Mutation_p.L1104R|ZMYND8_uc002xst.1_Missense_Mutation_p.L1056R|ZMYND8_uc002xsu.1_Missense_Mutation_p.L1075R|ZMYND8_uc002xsv.1_Missense_Mutation_p.L1102R|ZMYND8_uc002xsw.1_Missense_Mutation_p.L908R|ZMYND8_uc002xsx.1_Missense_Mutation_p.L880R|ZMYND8_uc002xsy.1_Missense_Mutation_p.L1131R|ZMYND8_uc002xsz.1_Missense_Mutation_p.L1093R|ZMYND8_uc002xta.1_Missense_Mutation_p.L1174R|ZMYND8_uc002xtb.1_Missense_Mutation_p.L1176R|ZMYND8_uc002xss.2_Missense_Mutation_p.L1174R|ZMYND8_uc010zxz.1_Missense_Mutation_p.L1042R|ZMYND8_uc002xtc.1_Missense_Mutation_p.L1148R|ZMYND8_uc002xtd.1_Missense_Mutation_p.L1123R|ZMYND8_uc002xte.1_Missense_Mutation_p.L1156R|ZMYND8_uc010zya.1_Missense_Mutation_p.L1202R|ZMYND8_uc002xtf.1_Missense_Mutation_p.L1222R|ZMYND8_uc002xsr.1_Missense_Mutation_p.L273R	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	1174							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTTCGGGAGGAGGCTCTTCGT	0.537000														108			21		0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112219820	112219820	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:112219820G>A	uc001tst.3	+	1	309	c.213G>A	c.(211-213)ggG>ggA	p.G71G	ALDH2_uc010syi.2_Silent_p.G71G	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	71					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	TAGCTGAAGGGGACAAGGTGA	0.448000			T	HMGA2	leiomyoma									47			15		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155630087	155630087	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155630087G>A	uc010pgi.2	-	9	2220	c.2028C>T	c.(2026-2028)gcC>gcT	p.A676A	GON4L_uc021paz.1_Silent_p.A518A|GON4L_uc010pgg.2_Silent_p.A423A|GON4L_uc010pgh.2_Silent_p.A527A|GON4L_uc009wqt.3_Silent_p.A507A|GON4L_uc001flh.3_Silent_p.A656A|GON4L_uc001fll.3_Silent_p.A538A|GON4L_uc001flk.3_Silent_p.A527A|GON4L_uc001flm.3_Silent_p.A527A|GON4L_uc009wqu.3_Silent_p.A371A|GON4L_uc009wqv.3_Silent_p.A255A|GON4L_uc009wqw.3_Silent_p.A507A|GON4L_uc001flj.3_Silent_p.A518A|GON4L_uc001fli.3_Silent_p.A538A|GON4L_uc001flo.3_Silent_p.A472A|GON4L_uc001fln.3_Silent_p.A584A|GON4L_uc010pgj.2_3'UTR|GON4L_uc001flp.3_Silent_p.A538A	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	1127					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TACAGCGAAAGGCCCTGGCTC	0.537000														114			55		0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283116	69283116	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:69283116G>A	uc004dxu.1	+	0	776	c.742G>A	c.(742-744)Gag>Aag	p.E248K		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	248	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CATCGGGGAGGAGTACGTCAA	0.657000														16			13		0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153417432	153417432	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:153417432G>A	uc002tye.3	+	5	846	c.479G>A	c.(478-480)aGc>aAc	p.S160N		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	160	GBD/FH3.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding	p.S160S(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						ACTGTGGAGAGCTCGGTGGAC	0.473000														14			6		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31997527	31997527	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31997527C>T	uc011dpd.2	+	28	3912	c.3861C>T	c.(3859-3861)gcC>gcT	p.A1287A	C4B_uc011dpe.2_Silent_p.A1287A	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1287					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										AGGCTGCGGCCTGGCTCACCC	0.667000														96			24		0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98449122	98449122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:98449122C>T	uc003upo.3	-	5	1117	c.928G>A	c.(928-930)Gac>Aac	p.D310N	TMEM130_uc011kiq.2_Missense_Mutation_p.D291N|TMEM130_uc011kir.2_Missense_Mutation_p.D310N|TMEM130_uc003upn.3_Missense_Mutation_p.D208N	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	310						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGCAGTAGTCCCCAGGGTCC	0.592000														42			24		0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9609185	9609185	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:9609185C>T	uc003wss.3	+	18	2904	c.2899C>T	c.(2899-2901)Cct>Tct	p.P967S	TNKS_uc011kww.2_Missense_Mutation_p.P730S|TNKS_uc010lrt.1_Non-coding_Transcript	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	967					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CTGTTTTAAACCTCAGGCTAC	0.488000														247			44		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294370	25294370	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25294370G>A	uc003abg.2	+	19	2776	c.2619G>A	c.(2617-2619)agG>agA	p.R873R	SGSM1_uc010guu.1_Silent_p.R818R|SGSM1_uc003abh.2_Silent_p.R812R|SGSM1_uc003abj.2_Silent_p.R757R|SGSM1_uc003abi.1_Silent_p.R793R	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	873	Rab-GAP TBC.		R -> K (in dbSNP:rs2073201).			Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AGGGCTGGAGGAGCAGCGAGA	0.592000														73			31		0	0	1	0	0
EME1	146956	broad.mit.edu	37	17	48457688	48457688	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48457688A>C	uc002iqs.2	+	7	1444	c.1362A>C	c.(1360-1362)gaA>gaC	p.E454D	EME1_uc010dbp.2_Missense_Mutation_p.E467D|EME1_uc010dbq.2_Non-coding_Transcript|DQ599569_uc010wmk.1_5'Flank	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	Homo sapiens essential meiotic endonuclease 1 homolog 1 (S. pombe) (EME1), transcript variant 2, mRNA.	454					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TCCGAGATGAAACTACCTTCT	0.547000								Direct reversal of damage;Homologous recombination						26			3		0	0	1	0	0
LEMD1	93273	broad.mit.edu	37	1	205350899	205350899	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205350899C>T	uc001hcj.2	-	5	568	c.433G>A	c.(433-435)Gag>Aag	p.E145K	LEMD1_uc001hcl.2_Missense_Mutation_p.E104K|LEMD1_uc001hci.2_Silent_p.S97S|LEMD1_uc001hcm.2_Non-coding_Transcript|LEMD1_uc001hcn.2_Silent_p.S56S|LEMD1_uc001hck.2_Non-coding_Transcript|LOC284576_uc001hch.1_Intron	NM_001199050	NP_001185979	Q68G75	LEMD1_HUMAN	Homo sapiens LEM domain containing 1 (LEMD1), transcript variant 1, mRNA.	145						integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			CTCCAGCTCTCGATAGTCTGG	0.478000														162			69		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	112448	112448	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000209.1:112448G>A	uc002qtt.2	+	7	912	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	KIR2DL2_uc021vdc.1_5'Flank|KIR2DL2_uc021vdd.1_5'Flank|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Missense_Mutation_p.E295K|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Missense_Mutation_p.E295K|KIR2DL2_uc002qum.3_5'Flank	NM_012313	NP_036445	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 (KIR2DS3), mRNA.	294					regulation of immune response	integral to membrane|plasma membrane	receptor activity										GGATTCTGATGAACAGGACCA	0.512000														154			71		0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15885110	15885110	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15885110G>A	uc010xor.1	-	0	65	c.45C>T	c.(43-45)ttC>ttT	p.F15F	CYP4F24P_uc002nbo.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		AGGGCTTCAGGAACCTGATGG	0.577000														83			44		0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39336578	39336578	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39336578G>A	uc021uuh.1	-	2	550	c.539C>T	c.(538-540)tCc>tTc	p.S180F	HNRNPL_uc021uui.1_Missense_Mutation_p.S47F|HNRNPL_uc010xun.2_5'Flank	NM_001533	NP_001005335	P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA.	180					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCCAGGGCGGGAGATCTTCTG	0.542000														109			44		0	0	1	0	0
TPM2	7169	broad.mit.edu	37	9	35685445	35685445	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35685445G>A	uc003zxq.3	-	3	717	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	TPM2_uc003zxs.3_Missense_Mutation_p.R160C|TPM2_uc010mkz.3_Missense_Mutation_p.R160C|TPM2_uc011lpa.2_Missense_Mutation_p.R160C	NM_213674	NP_998839	P07951	TPM2_HUMAN	Homo sapiens tropomyosin 2 (beta) (TPM2), transcript variant 2, mRNA.	160					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	p.R160S(3)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCATATTTGCGGTCTGAATCC	0.542000														120			28		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31750138	31750138	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:31750138G>A	uc001ivs.4	+	1	294	c.231G>A	c.(229-231)ggG>ggA	p.G77G	ZEB1_uc001ivr.4_5'UTR|ZEB1_uc010qef.2_5'UTR|ZEB1_uc009xlh.1_Non-coding_Transcript|ZEB1_uc009xli.1_Non-coding_Transcript|ZEB1_uc009xlj.1_Silent_p.G77G|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivu.4_Silent_p.G77G|ZEB1_uc010qeh.2_Intron|ZEB1_uc001ivv.4_Silent_p.G77G|ZEB1_uc001ivt.4_5'UTR|ZEB1_uc009xll.2_Non-coding_Transcript|ZEB1_uc009xlm.1_Non-coding_Transcript|ZEB1_uc009xln.1_Non-coding_Transcript|ZEB1_uc009xlo.2_Silent_p.G60G|ZEB1_uc009xlp.3_Silent_p.G60G	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	77					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGAGAAGGGAATGCTAAGA	0.388000														39			14		0	0	1	0	0
S1PR3	1903	broad.mit.edu	37	9	91616823	91616823	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:91616823G>A	uc022bjm.1	+	0	708	c.708G>A	c.(706-708)gaG>gaA	p.E236E	S1PR3_uc004aqe.3_Silent_p.E236E	NM_005226	NP_005217	Q99500	S1PR3_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA.	236					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						ACAACTCGGAGCGGTCCATGG	0.577000														51			14		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167060669	167060669	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:167060669G>A	uc010fpl.3	-	25	4878	c.4537C>T	c.(4537-4539)Ctt>Ttt	p.L1513F	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1524						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AGACAGATAAGAACCATGATA	0.328000														48			24		0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60643116	60643116	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60643116G>A	uc001nqd.3	+	11	1924	c.1904G>A	c.(1903-1905)aGc>aAc	p.S635N	ZP1_uc001nqe.3_Missense_Mutation_p.S342N	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	635					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTCTGGGAAAGCAACAGACAG	0.493000														34			14		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46797278	46797278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46797278C>T	uc011dwh.1	+	8	1206	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	MEP1A_uc010jzh.1_Missense_Mutation_p.R372C|MEP1A_uc011dwg.1_Missense_Mutation_p.R94C|MEP1A_uc011dwi.1_Missense_Mutation_p.R272C	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	372	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGGCAATGTTCGCAAGTTGGT	0.488000														136			36		0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65129479	65129479	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:65129479C>T	uc001dbo.1	+	13	2005	c.1900C>T	c.(1900-1902)Ctc>Ttc	p.L634F	CACHD1_uc001dbp.1_Missense_Mutation_p.L389F|CACHD1_uc001dbq.1_Missense_Mutation_p.L389F|CACHD1_uc010opa.1_5'Flank	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	685					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CACCGCCTATCTCAGCGACAA	0.587000														163			34		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488815	20488815	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:20488815C>T	uc001ytf.1	+	1		c.298C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		ATGTGGAACCCCCACCTGCTT	0.428000														132			17		0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91647573	91647573	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:91647573G>A	uc001xyw.2	+	7	1126	c.774G>A	c.(772-774)atG>atA	p.M258I	C14orf159_uc010atv.1_Non-coding_Transcript|C14orf159_uc001xyy.2_Missense_Mutation_p.M258I|C14orf159_uc001xyz.2_Missense_Mutation_p.M129I|C14orf159_uc001xzb.2_Missense_Mutation_p.M253I|C14orf159_uc001xyx.2_Missense_Mutation_p.M241I|C14orf159_uc001xzc.2_Missense_Mutation_p.M253I|C14orf159_uc001xza.2_Missense_Mutation_p.M258I|C14orf159_uc001xyv.2_Missense_Mutation_p.M258I|C14orf159_uc001xze.2_Missense_Mutation_p.M253I	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	253						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GCACAGTTATGACTGACCTGA	0.542000														35			20		0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54031199	54031199	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:54031199C>T	uc001jjm.3	+	10	1446	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	PRKG1_uc001jjo.3_Silent_p.I421I|PRKG1_uc009xow.2_Silent_p.I124I|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	406	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)		AGGAGCACATCCGCTCAGAGA	0.463000														45			13		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981915	7981915	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7981915G>A	uc001mfv.1	-	1	1261	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	415	NACHT.						ATP binding	p.S415F(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCTGCTAGGGAGCACAGACT	0.547000														64			24		0	0	1	0	0
RNF157	114804	broad.mit.edu	37	17	74163761	74163761	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74163761G>A	uc002jqz.3	-	3	483	c.414C>T	c.(412-414)gcC>gcT	p.A138A	RNF157_uc002jra.3_Silent_p.A138A	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	138							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			ACTCTTCCGTGGCCTGGTAAT	0.498000														108			27		0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53930377	53930378	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:53930377_53930378CC>TT	uc001cvq.1	+	2	873_874	c.818_819CC>TT	c.(817-819)ccc>cTT	p.P273L		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	273	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						ccactgccgccCCTTCCACCGC	0.678000														46			27		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21556024	21556024	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:21556024G>A	uc009yid.3	+	16	1987	c.1834G>A	c.(1834-1836)Gat>Aat	p.D612N	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Missense_Mutation_p.D584N|NELL1_uc001mqf.3_Intron|NELL1_uc010rdo.2_Missense_Mutation_p.D527N|NELL1_uc001mqh.3_Silent_p.T193T	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	584	EGF-like 6; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.D584N(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TTTCCATGACGATGGGACCTA	0.532000														76			6		0	0	1	0	0
DPCD	25911	broad.mit.edu	37	10	103348040	103348040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:103348040C>T	uc010qpz.2	+	3	885	c.457C>T	c.(457-459)Cct>Tct	p.P153S	POLL_uc001ktg.1_5'Flank|POLL_uc001kth.1_5'Flank|POLL_uc001ktj.2_5'Flank|POLL_uc010qqb.2_5'Flank|POLL_uc001ktf.3_5'Flank|POLL_uc001kti.2_5'Flank|POLL_uc001ktl.3_5'Flank|POLL_uc001ktm.3_5'Flank|POLL_uc010qqc.2_5'Flank|POLL_uc010qqa.2_5'Flank|POLL_uc010qqd.2_5'Flank|DPCD_uc001ktn.3_5'Flank			Q9BVM2	DPCD_HUMAN	SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ57512;	0							protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						CGGAAGTGACCCTCTGGAACG	0.612000														9			3		0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64275924	64275924	+	Missense_Mutation	SNP	C	T	T	rs145891572	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:64275924C>T	uc002amr.3	-	2	153	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	DAPK2_uc010uim.2_Non-coding_Transcript|DAPK2_uc010bgu.1_Missense_Mutation_p.R31Q	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	41	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		GCTCTTCTCCCGGCACTTCTT	0.597000														59			8		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124397119	124397119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124397119C>T	uc003ehg.3	+	49	7403	c.7276C>T	c.(7276-7278)Cgt>Tgt	p.R2426C	KALRN_uc003ehk.3_Missense_Mutation_p.R729C	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2425					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CACAGGGCCTCGTAAACCCAA	0.498000														100			27		0	0	1	0	0
HS1BP3	64342	broad.mit.edu	37	2	20838369	20838369	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:20838369G>A	uc002rdw.1	-	3	491	c.450C>T	c.(448-450)tcC>tcT	p.S150S	HS1BP3_uc002rdx.3_Silent_p.S150S	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA.	150					cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGGACAGAGGAATCTCTGC	0.567000														43			16		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55139748	55139748	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:55139748C>T	uc003han.4	+	9	1740	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.S364L|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	470	Ig-like C2-type 5.				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.V469A(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)	AACAATGTCTCAAACATCATC	0.502000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				87			23		0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29301113	29301113	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:29301113G>A	uc004dby.2	+	2	649	c.141G>A	c.(139-141)gaG>gaA	p.E47E		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	47	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGGTGGGAGAGCCTGTTCGAA	0.393000														19			27		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121485642	121485642	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121485642G>A	uc001pxx.3	+	40	5611	c.5482G>A	c.(5482-5484)Gat>Aat	p.D1828N	SORL1_uc010rzp.1_Missense_Mutation_p.D674N|SORL1_uc010rzq.1_Missense_Mutation_p.D443N	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1828	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGACTTGGGGGATAGCCCTCT	0.512000														141			12		0	0	1	0	0
CA9	768	broad.mit.edu	37	9	35675537	35675537	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35675537G>A	uc003zxo.4	+	1	448	c.406G>A	c.(406-408)Gat>Aat	p.D136N	C9orf100_uc003zxl.3_Non-coding_Transcript	NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	136	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTATACAGGGGATGACCAGAG	0.547000														47			10		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67109377	67109377	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:67109377G>A	uc002jhw.1	-	14	2202	c.2027C>T	c.(2026-2028)gCt>gTt	p.A676V		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	676	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CAGGATGTCAGCCTCATCCAT	0.483000														55			15		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14769773	14769773	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14769773G>A	uc003zlm.3	-	27	5969	c.5153C>T	c.(5152-5154)aCc>aTc	p.T1718I	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.T254I	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1718					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAATTCCACGGTATCTGAATT	0.353000														12			15		0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155264286	155264286	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155264286C>T	uc001fkb.4	-	5	991	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	PKLR_uc001fka.4_Missense_Mutation_p.E287K	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	318					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TTCACGCCTTCGTGGTTCTCA	0.582000														62			22		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240286601	240286601	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240286601G>A	uc010pye.2	+	1	1963	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	FMN2_uc010pyd.2_Missense_Mutation_p.E580K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	580					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTGCTTCAGGGAACCGTGTAA	0.493000														77			30		0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18156698	18156698	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:18156698G>A	uc002gsr.1	-	8	981	c.930C>T	c.(928-930)ccC>ccT	p.P310P	FLII_uc002gsq.1_Silent_p.P182P|FLII_uc010vxn.1_Silent_p.P279P|FLII_uc010vxo.1_Silent_p.P256P|FLII_uc002gss.1_Silent_p.P310P	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	310	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CAATGCCTGAGGGCAGCCCGT	0.582000														48			7		0	0	1	0	0
MYL10	93408	broad.mit.edu	37	7	101265448	101265448	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:101265448C>T	uc003uyr.3	-	4	560	c.382G>A	c.(382-384)Gcc>Acc	p.A128T		NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN	Homo sapiens myosin, light chain 10, regulatory (MYL10), mRNA.	128						mitochondrion	calcium ion binding	p.E127*(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TTCACCATGGCCTCCAGTTCC	0.602000														54			10		0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120880	46120880	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:46120880G>A	uc001coq.3	-	4	1533	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	Homo sapiens GC-rich promoter binding protein 1-like 1 (GPBP1L1), mRNA.	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					GTTCGTAGGGGACCATTGTTA	0.463000														85			46		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64589690	64589690	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:64589690C>T	uc003dmg.3	-	24	3687	c.3655G>A	c.(3655-3657)Gag>Aag	p.E1219K	ADAMTS9_uc011bfo.2_Missense_Mutation_p.E1191K|ADAMTS9_uc003dmh.1_Missense_Mutation_p.E1048K|ADAMTS9_uc011bfp.1_Missense_Mutation_p.E130K	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1219	TSP type-1 7.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.D1218N(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGGCACTCTCGTCAGCCACA	0.542000														70			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069622	9069622	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9069622G>A	uc002mkp.3	-	2	18028	c.17824C>T	c.(17824-17826)Ctt>Ttt	p.L5942F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5944	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						GCGGAATAAAGAGATGAATGT	0.502000														48			15		0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1046704	1046704	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:1046704C>T	uc001ift.3	+	6	813	c.742C>T	c.(742-744)Cgt>Tgt	p.R248C	GTPBP4_uc010qac.1_Missense_Mutation_p.R39C|GTPBP4_uc010qad.2_Missense_Mutation_p.R132C|GTPBP4_uc010qae.2_Missense_Mutation_p.R201C	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	248					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GGCCCACCTCCGTGCTGCGGT	0.557000														71			38		0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276978	71276978	+	Silent	SNP	C	T	T	rs77786965		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:71276978C>T	uc001oqt.1	+	0	370	c.345C>T	c.(343-345)ggC>ggT	p.G115G		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	115	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGGGCTGTGGCTCCTGTGGGG	0.667000														143			58		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51757907	51757907	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51757907G>A	uc001ryk.2	-	4	1272	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Silent_p.I349I	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	349	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTCCTTACTTGATGGGGTAGG	0.552000														55			32		0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120079232	120079232	+	Missense_Mutation	SNP	C	T	T	rs138061447		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:120079232C>T	uc003icp.4	+	3	515	c.302C>T	c.(301-303)tCg>tTg	p.S101L		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	101							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GAAGGTGGTTCGCAGCAAGCC	0.463000														118			53		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147926752	147926752	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:147926752C>T	uc003weu.2	+	19	3778	c.3262C>T	c.(3262-3264)Cga>Tga	p.R1088*		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1088	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R1088*(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTTACAGATTCGATACAACCT	0.443000										HNSCC(39;0.1)				49			13		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201079390	201079390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201079390C>T	uc001gvv.3	-	1	387	c.160G>A	c.(160-162)Gag>Aag	p.E54K		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	54					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATGATCGTCTCGAAGGGCCTG	0.577000														53			23		0	0	1	0	0
RBM48	84060	broad.mit.edu	37	7	92164170	92164170	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92164170C>T	uc003uma.3	+	3	944	c.903C>T	c.(901-903)aaC>aaT	p.N301N	RBM48_uc003ulz.3_Silent_p.N301N			Q5RL73	CG064_HUMAN	Homo sapiens RNA binding motif protein 48 (RBM48), mRNA.	301							nucleotide binding										TTCAAACAAACCCAACTGGTA	0.413000														40			18		0	0	1	0	0
SHB	6461	broad.mit.edu	37	9	37974775	37974775	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:37974775G>A	uc004aax.3	-	2	1466	c.898C>T	c.(898-900)Cct>Tct	p.P300S		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	300	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GGTTCGTAAGGGGTGTCATAT	0.537000														54			28		0	0	1	0	0
IL22RA2	116379	broad.mit.edu	37	6	137466765	137466765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:137466765G>A	uc003qhl.3	-	6	1089	c.788C>T	c.(787-789)cCa>cTa	p.P263L	IL22RA2_uc003qhn.3_3'UTR|IL22RA2_uc003qhm.3_Missense_Mutation_p.P231L	NM_052962	NP_443194	Q969J5	I22R2_HUMAN	Homo sapiens interleukin 22 receptor, alpha 2 (IL22RA2), transcript variant 1, mRNA.	263	Fibronectin type-III 3.				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		CACAAGTCATGGAATTTCCAC	0.403000														24			21		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30963185	30963185	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:30963185G>A	uc003tbv.2	+	3	861	c.751G>A	c.(751-753)Gag>Aag	p.E251K	FAM188B_uc011kac.1_Missense_Mutation_p.E311K|FAM188B_uc010kwf.1_Missense_Mutation_p.E168K|FAM188B_uc010kwh.1_Missense_Mutation_p.E200K|FAM188B_uc022abh.1_Missense_Mutation_p.E136K	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	135										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGGCCAGGTGGAGGAGTATGA	0.627000														23			8		0	0	1	0	0
CCDC121	79635	broad.mit.edu	37	2	27850325	27850325	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27850325C>T	uc002rld.3	-	1	943	c.828G>A	c.(826-828)aaG>aaA	p.K276K	ZNF512_uc010yly.1_Intron|CCDC121_uc002rle.3_Silent_p.K114K|CCDC121_uc021vfe.1_Silent_p.K114K|GPN1_uc010ezf.3_5'Flank|GPN1_uc010yma.2_5'Flank|GPN1_uc010ymb.2_5'Flank|GPN1_uc010ymd.2_5'Flank|GPN1_uc010ymc.2_5'Flank|GPN1_uc010ezg.1_5'Flank	NM_001142683	NP_078860	Q6ZUS5	CC121_HUMAN	Homo sapiens coiled-coil domain containing 121 (CCDC121), transcript variant 2, mRNA.	114										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					CCTGCTTTTCCTTTAATATAG	0.433000														230			90		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52420785	52420785	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52420785C>T	uc011bef.2	+	55	9180	c.8919C>T	c.(8917-8919)acC>acT	p.T2973T	DNAH1_uc003ddv.3_5'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2973	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCCAGGCACCAAGGTGGATG	0.572000														6			4		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187205268	187205268	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187205268C>T	uc003iza.1	+	10	1491	c.1158C>T	c.(1156-1158)ccC>ccT	p.P386P		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	386					blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AAATCAAGCCCAGGATCGTTG	0.517000														79			29		0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4391133	4391133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:4391133G>A	uc002fxt.3	+	11	1527	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N	SPNS3_uc002fxu.3_Missense_Mutation_p.D368N|AX748345_uc002fxw.1_5'Flank	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	495					lipid transport|transmembrane transport	integral to membrane		p.N494N(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GGACAGCAACGACCTGGAGAG	0.622000														68			59		0	0	1	0	0
DNAJC1	64215	broad.mit.edu	37	10	22048148	22048148	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:22048148G>A	uc001irc.3	-	10	1834	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F		NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA.	516	SANT 2.				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GCGGTCAGAGGATCCCCTTGG	0.542000														185			49		0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410142	159410142	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159410142C>T	uc010piv.2	+	0	631	c.594C>T	c.(592-594)tcC>tcT	p.S198S	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	198					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TGAAGCTCTCCTGCATTGACA	0.438000														146			68		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79385646	79385646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:79385646C>T	uc003hlb.2	+	48	7378	c.6938C>T	c.(6937-6939)cCc>cTc	p.P2313L		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2312					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GATTCGCTGCCCGTCGTACAG	0.532000														79			12		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70933493	70933493	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:70933493C>T	uc021vjc.1	-	2	313	c.48G>A	c.(46-48)caG>caA	p.Q16Q	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.Q16Q|ADD2_uc002sgz.3_Silent_p.Q16Q|ADD2_uc010fdt.2_Silent_p.Q16Q|ADD2_uc002shc.2_Silent_p.Q16Q|ADD2_uc010fdu.2_Silent_p.Q32Q	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	16					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AAGGCTGCCCCTGCGGGGGCG	0.642000														76			30		0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77270191	77270191	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:77270191G>A	uc001xsv.3	-	5	1558	c.1445C>T	c.(1444-1446)cCc>cTc	p.P482L		NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	482										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CAGGGAGCTGGGCCACAGTGG	0.527000														147			60		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75248565	75248565	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75248565C>T	uc001xqj.4	+	3	1943	c.1819C>T	c.(1819-1821)Cca>Tca	p.P607S	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGTTCTTCCCCCACCATCTCT	0.597000														129			71		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47500803	47500803	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:47500803G>A	uc002leb.2	-	9	1527	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	MYO5B_uc021ukb.1_Silent_p.F412F	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	413	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAATCCAGCCGAACAACTGGG	0.592000														66			39		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520248	131520248	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:131520248C>T	uc021voy.1	+	0	603	c.603C>T	c.(601-603)ttC>ttT	p.F201F	FAM123C_uc002trw.2_Silent_p.F201F|FAM123C_uc010fmv.2_Silent_p.F201F|FAM123C_uc010fms.1_Silent_p.F201F|FAM123C_uc010fmt.1_Silent_p.F201F|FAM123C_uc010fmu.1_Silent_p.F201F	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	201										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GCAAAGCCTTCCTCCCCCCGG	0.687000														47			20		0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86008723	86008723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:86008723G>A	uc001kdd.1	+	2	332	c.294G>A	c.(292-294)caG>caA	p.Q98Q	RGR_uc001kdb.1_Missense_Mutation_p.G82R|RGR_uc001kdc.1_Silent_p.Q94Q|RGR_uc001kde.1_Silent_p.Q94Q	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	94					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						ACGGCTTCCAGGGCTTTGTGA	0.632000														56			10		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43325361	43325361	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43325361G>A	uc003oux.3	-	2	769	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	231					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GATCGATGCAGGAAAGTTTCT	0.478000														92			28		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2426252	2426252	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:2426252C>T	uc010qxl.2	-	23	3446	c.3437G>A	c.(3436-3438)gGa>gAa	p.G1146E	TRPM5_uc001lwm.4_Missense_Mutation_p.G1138E|TRPM5_uc009ydn.3_Missense_Mutation_p.G1140E	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	1138						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAGCTGGCTTCCCTCGCCACA	0.662000														26			17		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178416045	178416045	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178416045G>A	uc003mjr.3	-	5	1424	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	GRM6_uc010jla.1_Intron|GRM6_uc003mjs.1_Silent_p.L35L	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	415					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCATGCTGTGGAGGGCGTGGG	0.632000														22			12		0	0	1	0	0
ESAM	90952	broad.mit.edu	37	11	124626255	124626255	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124626255G>A	uc001qav.4	-	3	628	c.455C>T	c.(454-456)cCt>cTt	p.P152L	ESAM_uc010sao.2_Intron|ESAM_uc001qau.4_Missense_Mutation_p.P79L|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Intron	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	152					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	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;0.022)		AGGAGCTGGAGGAACTGGGCA	0.597000														12			3		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141535653	141535653	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:141535653C>T	uc011bnd.2	+	3	1507	c.1423C>T	c.(1423-1425)Cct>Tct	p.P475S		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	475	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.P475H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TGTGCCAGACCCTTCAGTGGT	0.428000														219			49		0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6752834	6752834	+	Silent	SNP	G	A	A	rs148058585		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6752834G>A	uc001qpu.1	-	5	996	c.948C>T	c.(946-948)ctC>ctT	p.L316L	ACRBP_uc010sfg.1_Silent_p.L283L	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	316				L -> F (in Ref. 1; BAB39388).		acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GCAGCTGCAGGAGGCTGCAAG	0.587000														79			23		0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88119601	88119601	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:88119601G>A	uc003plv.3	+	1	167	c.44G>A	c.(43-45)cGa>cAa	p.R15Q	C6orf165_uc003plu.2_Missense_Mutation_p.R15Q|C6orf165_uc003plw.3_5'UTR|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	15										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGTATTATACGAGAAATAGGA	0.318000														89			8		0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203188883	203188883	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203188883G>A	uc001gzn.2	-	7	920	c.824C>T	c.(823-825)tCc>tTc	p.S275F	CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xal.1_Missense_Mutation_p.S66F|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.S266F	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	275					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTCTGATGAGGAGGCCAGTGT	0.602000														60			34		0	0	1	0	0
PPARD	5467	broad.mit.edu	37	6	35387967	35387967	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:35387967C>T	uc003okn.3	+	4	599	c.194C>T	c.(193-195)gCc>gTc	p.A65V	PPARD_uc003okl.3_Missense_Mutation_p.A65V|PPARD_uc011dtb.2_Missense_Mutation_p.A26V|PPARD_uc011dtc.2_Intron|PPARD_uc003okm.3_Missense_Mutation_p.A65V|PPARD_uc010jvv.1_Intron	NM_001171818	NP_006229	Q03181	PPARD_HUMAN	Homo sapiens peroxisome proliferator-activated receptor delta (PPARD), transcript variant 3, mRNA.	65					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TGTGACGGGGCCTCATGCGGC	0.637000														43			19		0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385766	33385766	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:33385766G>A	uc003zst.3	-	6	796	c.624C>T	c.(622-624)atC>atT	p.I208I	AQP7_uc003zsu.1_Silent_p.I151I|AQP7_uc010mjs.2_Silent_p.I116I|AQP7_uc010mjt.2_Silent_p.I116I|AQP7_uc011lny.1_Silent_p.I207I|AQP7_uc003zss.3_Silent_p.I116I|AQP7_uc011lnz.1_Silent_p.I116I|AQP7_uc011loa.1_Missense_Mutation_p.P77S|AQP7_uc011lnx.1_Silent_p.I208I	NM_001170	NP_001161	O14520	AQP7_HUMAN	Homo sapiens aquaporin 7 (AQP7), mRNA.	208					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TGACCACGAGGATGCCTATCA	0.602000														79			30		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20851952	20851952	+	Silent	SNP	G	A	A	rs139781911	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20851952G>A	uc001vxe.3	-	24	3700	c.3660C>T	c.(3658-3660)acC>acT	p.T1220T	TEP1_uc010ahk.3_Silent_p.T570T|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.T1112T|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1220	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CACGCAGATAGGTACAGAGGC	0.592000														13			6		0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987912	50987912	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50987912C>T	uc003bmi.3	+	0	1451	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	Homo sapiens kelch domain containing 7B (KLHDC7B), mRNA.	439										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGCACCTTCCCTGTGGCCC	0.652000														85			28		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121379469	121379469	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:121379469G>A	uc003yox.3	+	45	5402	c.5137G>A	c.(5137-5139)Ggc>Agc	p.G1713S	COL14A1_uc003yoz.3_Missense_Mutation_p.G678S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1713	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGGTCCAAGAGGCCCCCCTGG	0.373000														45			15		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34181935	34181935	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34181935G>A	uc001bxm.1	-	19	3345	c.3168C>T	c.(3166-3168)ttC>ttT	p.F1056F	CSMD2_uc001bxn.1_Silent_p.F1016F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1016	Sushi 6.					integral to membrane|plasma membrane	protein binding	p.G1056G(1)|p.G1056S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AATCAGAGATGAAGCGGACCT	0.542000														67			9		0	0	1	0	0
TTC38	55020	broad.mit.edu	37	22	46685431	46685431	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:46685431C>T	uc003bhi.3	+	11	1291	c.1215C>T	c.(1213-1215)atC>atT	p.I405I	TTC38_uc011aqx.2_Silent_p.I347I	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	Homo sapiens tetratricopeptide repeat domain 38 (TTC38), mRNA.	405							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						GCTACCGGATCGTCCAGCTCG	0.721000														25			8		0	0	1	0	0
VPS45	11311	broad.mit.edu	37	1	150065671	150065671	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:150065671C>T	uc001etp.3	+	12	1993	c.1420C>T	c.(1420-1422)Ctg>Ttg	p.L474L	VPS45_uc010pbp.1_Non-coding_Transcript|VPS45_uc010pbq.2_Silent_p.L438L|VPS45_uc010pbs.2_Silent_p.L369L|VPS45_uc001etq.3_Silent_p.L294L|VPS45_uc009wlm.1_Silent_p.L450L	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA.	474					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	Golgi membrane|endosome membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACATGAAACCCTGGATCATCT	0.373000														89			43		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3265439	3265439	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:3265439A>G	uc022aqr.1	-	13	2443	c.2053T>C	c.(2053-2055)Ttc>Ctc	p.F685L	CSMD1_uc011kwj.2_Missense_Mutation_p.F78L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	686	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGATGTTGAACCCTCTGCCA	0.448000														11			4		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278255	36278255	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36278255C>T	uc002obs.2	+	20	2449	c.2305C>T	c.(2305-2307)Ccc>Tcc	p.P769S	ARHGAP33_uc002obt.2_Missense_Mutation_p.P794S|ARHGAP33_uc002obv.1_Missense_Mutation_p.P518S	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	822					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TTCCCAATCCCCCTTCCACCG	0.701000														53			10		0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51696896	51696896	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51696896C>T	uc001ryg.3	-	2	244	c.192G>A	c.(190-192)ctG>ctA	p.L64L	BIN2_uc009zlz.3_Silent_p.L64L|BIN2_uc001ryh.3_5'UTR|BIN2_uc010sng.2_Silent_p.L38L	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	64	BAR.					cytoplasm	protein binding	p.D63N(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GGAAGTTCTTCAGGTCCTTGT	0.438000														104			22		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115220557	115220557	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:115220557C>T	uc001efe.2	-	8	1345	c.1297G>A	c.(1297-1299)Ggg>Agg	p.G433R	AMPD1_uc001eff.2_Missense_Mutation_p.G429R	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	400					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)	Adenosine monophosphate(DB00131)	AAATATTCCCCATTAATGTAA	0.433000														148			19		0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8808164	8808164	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:8808164G>A	uc002glt.3	-	4	409	c.342C>T	c.(340-342)acC>acT	p.T114T	PIK3R5_uc010vuz.2_Silent_p.T114T|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	114					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GAACAGGCCAGGTCAGGAACC	0.577000														52			13		0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43519322	43519322	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43519322G>A	uc002ovm.1	-	3	1017	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.R182C|PSG11_uc002ovo.1_Missense_Mutation_p.R182C	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	304	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GCTGAGTTACGAGCAGAGCAA	0.458000														120			119		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934998	28934998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28934998C>T	uc002kwp.3	+	14	3051	c.2839C>T	c.(2839-2841)Cac>Tac	p.H947Y	DSG1_uc010xbp.2_Missense_Mutation_p.H306Y	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	947					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	p.H947N(2)		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)			AGCCAATGCCCACAATGTCAT	0.507000														198			79		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57347212	57347212	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57347212G>A	uc001cyo.2	+	4	691	c.559G>A	c.(559-561)Gag>Aag	p.E187K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	187	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGAATGGAGGGAGCTTCGATA	0.453000														122			40		0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50391759	50391759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50391759C>T	uc002pqo.3	+	16	2124	c.1825C>T	c.(1825-1827)Ccg>Tcg	p.P609S	TBC1D17_uc010ybg.2_Missense_Mutation_p.P576S|TBC1D17_uc002pqp.3_Missense_Mutation_p.P260S|TBC1D17_uc002pqr.3_Missense_Mutation_p.P260S|IL4I1_uc002pqt.1_3'UTR|IL4I1_uc021uxy.1_3'UTR|IL4I1_uc002pqu.2_3'UTR|IL4I1_uc010eno.2_3'UTR|IL4I1_uc002pqv.2_3'UTR	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	609	Pro-rich.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CACCGCCTCCCCGCTGCCTCT	0.746000														12			3		0	0	1	0	0
MYL4	4635	broad.mit.edu	37	17	45299116	45299116	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:45299116G>A	uc002ilg.3	+	4	510	c.382G>A	c.(382-384)Gag>Aag	p.E128K	MYL4_uc002ilh.3_Missense_Mutation_p.E128K	NM_001002841	NP_002467	P12829	MYL4_HUMAN	Homo sapiens myosin, light chain 4, alkali; atrial, embryonic (MYL4), transcript variant 1, mRNA.	128					cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CCGCAACAAGGAGCAGGGCAC	0.542000														57			42		0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791056	110791056	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:110791056C>T	uc003hzx.4	+	2	1209	c.1016C>T	c.(1015-1017)tCa>tTa	p.S339L	LRIT3_uc003hzw.4_Missense_Mutation_p.S201L	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	339	Ser-rich.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AGCGCATCATCATATCTTTGG	0.468000														133			56		0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31232685	31232685	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:31232685C>T	uc001utc.2	+	8	2903	c.2471C>T	c.(2470-2472)cCc>cTc	p.P824L	USPL1_uc001utd.2_Missense_Mutation_p.P495L|USPL1_uc001ute.1_Missense_Mutation_p.P495L	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	824					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AAGCCTCCTCCCATCAGTAAG	0.483000														79			30		0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510576	56510576	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56510576G>A	uc010rjo.2	-	0	712	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L237F(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGGATAGCCAGGAGGATGTTG	0.478000														97			10		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300777	103300777	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103300777C>T	uc002tca.3	+	4	1549	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	469						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTGTCATATTCTTTACTGTCT	0.403000														172			62		0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129752087	129752087	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:129752087G>A	uc001qfg.3	-	8	1281	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	NFRKB_uc001qfi.3_Missense_Mutation_p.P362L|NFRKB_uc001qfh.3_Missense_Mutation_p.P385L|NFRKB_uc010sbw.1_Missense_Mutation_p.P374L	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	362					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTCTTCAAGGGGCCTAATGAG	0.438000														32			12		0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60737753	60737753	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:60737753G>A	uc001vht.3	-	0	367	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	DIAPH3_uc001vhw.1_Missense_Mutation_p.P50S|DIAPH3_uc010aed.1_Missense_Mutation_p.P50S|DIAPH3_uc010aee.1_Missense_Mutation_p.P50S	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	50					actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GGCTCCTCGGGGCCACTGGGC	0.711000														52			18		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872865	55872865	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55872865C>T	uc010riy.2	+	0	347	c.347C>T	c.(346-348)tCc>tTc	p.S116F		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TACCTTCTCTCCTCAATGGCC	0.463000										HNSCC(53;0.14)				299			103		0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224437993	224437993	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:224437993G>A	uc001hok.3	-	18	2272	c.2210C>T	c.(2209-2211)cCg>cTg	p.P737L	NVL_uc001hol.3_Missense_Mutation_p.P631L|NVL_uc010pvd.2_Missense_Mutation_p.P646L|NVL_uc010pve.2_Missense_Mutation_p.P548L|NVL_uc010pvf.2_Non-coding_Transcript	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	737						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CAGGCGGCCCGGGCGCAGGAT	0.393000														74			26		0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580498	580498	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:580498G>A	uc002kko.1	+	0	130	c.90G>A	c.(88-90)aaG>aaA	p.K30K		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	30	EF-hand 1.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	p.Q29H(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						AGGATCAGAAGCAAGAAGTTC	0.592000														29			16		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231115757	231115757	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:231115757C>T	uc002vql.3	+	9	1153	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Silent_p.S346S|SP140_uc002vqn.3_Intron|SP140_uc002vqm.3_Silent_p.S320S|SP140_uc010fxl.3_Silent_p.S346S	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	346					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCTCTAGCTCCCTAGCAAGAT	0.478000														43			19		0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15132462	15132462	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15132462G>A	uc002nae.2	+	4	1175	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	359					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CTGATGAGGGGAACTATCCTC	0.582000														65			7		0	0	1	0	0
FBXO22	26263	broad.mit.edu	37	15	76205550	76205550	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:76205550C>T	uc002bbk.3	+	2	391	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	FBXO22_uc002bbj.2_Missense_Mutation_p.R96C|FBXO22_uc002bbl.3_5'UTR	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	96					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	p.R96H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCAGAATGTTCGCATCTTACC	0.383000														110			19		0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44514663	44514663	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44514663C>T	uc002oyb.1	+	4	723	c.472C>T	c.(472-474)Cct>Tct	p.P158S		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	158	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CTTTGATCCTCCTCAGCAGTT	0.438000														133			59		0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62066599	62066599	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:62066599G>A	uc002sbm.4	-	2	1642	c.1540C>T	c.(1540-1542)Ccc>Tcc	p.P514S	FAM161A_uc002sbn.4_Missense_Mutation_p.P324S|FAM161A_uc010ypo.2_Missense_Mutation_p.P514S|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Missense_Mutation_p.P405S	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	514					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTGGGCACGGGAGGGTTGCAG	0.478000														77			28		0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156269026	156269026	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:156269026C>T	uc003ios.3	-	13	2117	c.1853G>A	c.(1852-1854)cGa>cAa	p.R618Q	MAP9_uc011cin.2_Missense_Mutation_p.R593Q	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	618					cell division|mitosis	cytoplasm|microtubule|spindle		p.R618Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CTTCTGTTTTCGTTCAATTCT	0.338000														10			3		0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53097069	53097069	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53097069C>T	uc001saw.3	-	0	179	c.150G>A	c.(148-150)ggG>ggA	p.G50G	KRT77_uc009zmi.3_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	50	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TTCCATGGATCCCATATCCAC	0.547000														42			19		0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69969797	69969797	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:69969797C>T	uc002exu.1	+	18	1973	c.1884C>T	c.(1882-1884)ctC>ctT	p.L628L	WWP2_uc002exv.1_Silent_p.L628L|WWP2_uc010vlm.1_Silent_p.L512L|WWP2_uc010vln.1_Silent_p.L246L|WWP2_uc002exw.1_Silent_p.L189L	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	628	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	p.L628F(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTTCACCCTCCCTTTCTACA	0.532000														164			55		0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4544408	4544408	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4544408G>A	uc010dud.2	-	16	2134	c.1872C>T	c.(1870-1872)ctC>ctT	p.L624L	SEMA6B_uc010xih.1_Intron	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	624					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGCTCACGGAGGCCCACGA	0.731000														20			9		0	0	1	0	0
PHF13	148479	broad.mit.edu	37	1	6681627	6681627	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6681627G>A	uc001aob.4	+	3	1204	c.833G>A	c.(832-834)cGg>cAg	p.R278Q		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	Homo sapiens PHD finger protein 13 (PHF13), mRNA.	278					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		CAAAAGTGCCGGGACTCCAAG	0.577000														61			19		0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36716041	36716041	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:36716041G>A	uc003omr.1	-	14	1042	c.975C>T	c.(973-975)acC>acT	p.T325T	CPNE5_uc003omp.1_Silent_p.T33T|CPNE5_uc010jwn.1_5'UTR|CPNE5_uc003omq.1_5'UTR	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	325										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGTTGATCTGGGTCCTAGAAG	0.582000														117			14		0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48047099	48047099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:48047099C>T	uc004diz.1	-	7	711	c.658G>A	c.(658-660)Gag>Aag	p.E220K	SSX5_uc004dja.1_Missense_Mutation_p.E179K	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TCGCTGATCTCTTCATAAATC	0.483000														122			119		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174964	51174964	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:51174964G>A	uc021tif.1	-	1	1200	c.878C>T	c.(877-879)cCa>cTa	p.P293L	SALL1_uc021tid.1_Missense_Mutation_p.P293L|SALL1_uc021tie.1_Missense_Mutation_p.P390L|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	390					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGGTAGAAGTGGATTAGACGC	0.522000														70			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179591878	179591878	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179591878G>A	uc021vsy.1	-	65	16707	c.16482C>T	c.(16480-16482)ttC>ttT	p.F5494F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F2155F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6421	Ig-like 35.						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)			CCTCACAAATGAAATCTCCAC	0.418000														99			27		0	0	1	0	0
KCNIP2	30819	broad.mit.edu	37	10	103603287	103603287	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:103603287G>A	uc001kuc.3	-	0	391	c.39C>T	c.(37-39)tcC>tcT	p.S13S	KCNIP2_uc009xwv.3_Silent_p.S13S|KCNIP2_uc001kub.3_Silent_p.S13S|KCNIP2_uc001kue.3_Silent_p.S13S|KCNIP2_uc001kud.3_Silent_p.S13S|KCNIP2_uc001kuf.3_Silent_p.S13S|KCNIP2_uc001kua.3_5'UTR|KCNIP2_uc009xwu.3_Silent_p.S13S|KCNIP2_uc010qqi.2_Silent_p.S13S	NM_014591	NP_055406	Q9NS61	KCIP2_HUMAN	Homo sapiens Kv channel interacting protein 2 (KCNIP2), transcript variant 1, mRNA.	13					clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|ER retention sequence binding|calcium ion binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		CCAGGTCTCGGGAATCGGACA	0.726000														12			5		0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6635912	6635912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6635912G>A	uc001mel.1	-	12	1618	c.1557C>T	c.(1555-1557)acC>acT	p.T519T	TAF10_uc001mej.2_5'Flank|TPP1_uc001mek.1_Silent_p.T276T	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	519					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GGCAGCCACGGGTTACCTAGG	0.532000														93			27		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105026744	105026744	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:105026744C>T	uc003yls.3	+	16	2696	c.2455C>T	c.(2455-2457)Cgt>Tgt	p.R819C	RIMS2_uc003ylp.3_Missense_Mutation_p.R1079C|RIMS2_uc003ylw.2_Missense_Mutation_p.R893C|RIMS2_uc003ylq.3_Missense_Mutation_p.R893C|RIMS2_uc003ylr.3_Missense_Mutation_p.R918C	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1141	C2 1.				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)			GTCTCATCCTCGTACTGGGTC	0.418000										HNSCC(12;0.0054)				49			12		0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35255046	35255046	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:35255046G>A	uc001wsk.3	-	13	2336	c.1768C>T	c.(1768-1770)Cgt>Tgt	p.R590C	BAZ1A_uc001wsl.3_Missense_Mutation_p.R558C	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	590					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTGCTCAAACGAAGCTCCATA	0.418000														93			48		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31593296	31593296	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:31593296G>A	uc002rnv.1	-	17	1984	c.1905C>T	c.(1903-1905)ttC>ttT	p.F635F		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	635					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CAGCGGAAATGAAACAAACAA	0.438000														50			10		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541971	133541971	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:133541971G>A	uc002ttp.3	-	13	2787	c.2413C>T	c.(2413-2415)Ccc>Tcc	p.P805S	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	805							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTGCCCCTGGGAGGTATTTTT	0.463000														282			21		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35802490	35802491	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:35802490_35802491GG>AA	uc010zvu.2	-	3	377_378	c.286_287CC>TT	c.(286-288)ccc>TTc	p.P96F	C20orf132_uc002xgm.2_Missense_Mutation_p.P96F|C20orf132_uc002xgn.2_Missense_Mutation_p.P96F	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	16										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				ATAGGCACAGGGGATCACTACT	0.396000														27			8		0	0	1	0	0
MYLIP	29116	broad.mit.edu	37	6	16141939	16141939	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:16141939C>T	uc003nbq.3	+	2	599	c.362C>T	c.(361-363)gCc>gTc	p.A121V	MYLIP_uc003nbr.3_5'UTR	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	121	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GAACTCAGTGCCCTCCTGGCC	0.537000														69			34		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370490	240370490	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240370490G>A	uc010pye.2	+	5	2615	c.2390G>A	c.(2389-2391)cGa>cAa	p.R797Q	FMN2_uc010pyd.2_Missense_Mutation_p.R793Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	793	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCTCCAAGGCGAATATCAGTC	0.577000														78			20		0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55758950	55758950	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55758950C>T	uc010spk.2	+	0	56	c.56C>T	c.(55-57)cCa>cTa	p.P19L		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACAAGTGACCCACAGTGGCAG	0.363000														183			56		0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115422330	115422330	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:115422330C>T	uc011lwx.1	+	4	2391	c.2216C>T	c.(2215-2217)tCc>tTc	p.S739F	KIAA1958_uc004bgf.1_Missense_Mutation_p.S711F	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	711										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGGCTTGGCTCCCACAGCTGC	0.612000														74			27		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934539	30934539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:30934539C>T	uc002nsu.1	+	1	208	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S	ZNF536_uc010edd.1_Missense_Mutation_p.P24S	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTGAGTGGCCCCGTCCTCAA	0.622000														135			45		0	0	1	0	0
STAP2	55620	broad.mit.edu	37	19	4333791	4333791	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4333791C>T	uc002mab.3	-	2	388	c.197G>A	c.(196-198)gGa>gAa	p.G66E	STAP2_uc002mac.3_Missense_Mutation_p.G66E|STAP2_uc021unb.1_Missense_Mutation_p.G66E|STAP2_uc021unc.1_Missense_Mutation_p.G66E|STAP2_uc002mad.3_5'UTR	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	Homo sapiens signal transducing adaptor family member 2 (STAP2), transcript variant 2, mRNA.	66	PH.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAAATGCTCCCAAGTTGAG	0.567000														51			23		0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50653837	50653837	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:50653837C>T	uc011mnw.2	+	0	103	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	18					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TCGTGCTTTTCATGGAACACA	0.493000														14			5		0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8122528	8122528	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:8122528C>T	uc001mga.3	+	10	1520	c.1371C>T	c.(1369-1371)atC>atT	p.I457I	TUB_uc010rbk.2_Silent_p.I463I|TUB_uc001mfy.3_Silent_p.I512I	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	457					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		p.R457H(1)		breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		ACTTCCAGATCATCCATGGCA	0.522000														76			18		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94548945	94548945	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94548945C>T	uc001dqh.3	-	6	925	c.821G>A	c.(820-822)gGa>gAa	p.G274E	ABCA4_uc010otn.1_Missense_Mutation_p.G274E	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	274					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.W273C(1)		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)		TAATATTCCTCCCCAAGATCT	0.353000														339			19		0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73836847	73836847	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73836847G>A	uc002jpp.3	-	7	1059	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	UNC13D_uc010wsk.1_Missense_Mutation_p.R227C|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_Missense_Mutation_p.R24C	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	227					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACGAACCTGCGAAGCCCATGC	0.597000									Familial Hemophagocytic Lymphohistiocytosis					134			40		0	0	1	0	0
SLC35E4	339665	broad.mit.edu	37	22	31032727	31032727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31032727G>A	uc003ais.1	+	0	935	c.290G>A	c.(289-291)gGg>gAg	p.G97E	SLC35E4_uc003ait.3_Missense_Mutation_p.G85E	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA.	97						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						TGCCACCGGGGGGCACGGCGC	0.667000														20			8		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149493792	149493792	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149493792C>T	uc010lpk.3	+	44	6779	c.6779C>T	c.(6778-6780)tCg>tTg	p.S2260L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2263	LDL-receptor class A 8.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGGATGGCTCGGATGAGGAG	0.657000														17			3		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234891	21234891	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21234891C>T	uc002red.3	-	25	4977	c.4849G>A	c.(4849-4851)Gga>Aga	p.G1617R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1617					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTAGTGATCCAGAAAGCAGG	0.423000														49			20		0	0	1	0	0
TBC1D3F	84218	broad.mit.edu	37	17	36375119	36375119	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:36375119G>A	uc010wdn.1	-	0		c.59C>T			LOC440434_uc002hpx.2_Non-coding_Transcript			A6NER0	TBC3F_HUMAN	Homo sapiens aminopeptidase puromycin sensitive pseudogene (LOC440434), non-coding RNA.							intracellular	Rab GTPase activator activity			liver(1)|pancreas(1)	2						GAGTACTAGGGAAAGACAAGG	0.348000														42			6		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41496622	41496622	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:41496622G>A	uc003gvu.4	+	2	221	c.167_splice	c.e2+1	p.E56_splice	LIMCH1_uc003gvt.1_Intron|LIMCH1_uc003gwe.4_Splice_Site_p.E56_splice|LIMCH1_uc003gvv.4_Splice_Site_p.E56_splice|LIMCH1_uc003gvw.4_Splice_Site_p.E56_splice|LIMCH1_uc003gvx.4_Splice_Site_p.E56_splice|LIMCH1_uc003gvy.4_Splice_Site	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	56	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCTCCTCTGCGAGTAAGTATA	0.328000														45			18		0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427263	97427263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:97427263C>T	uc002swx.3	+	0	625	c.527C>T	c.(526-528)cCt>cTt	p.P176L		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	176					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GTGGAGGAGCCTGGGAGGTTC	0.602000														257			110		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233335967	233335967	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233335967G>A	uc001hvl.2	-	13	3142	c.2907C>T	c.(2905-2907)ttC>ttT	p.F969F	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.	969						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)				TGATTTGCGGGAAGAGCCCAA	0.398000														10			9		0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236949460	236949460	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:236949460C>T	uc002vvs.3	+	14	2464	c.1866C>T	c.(1864-1866)tcC>tcT	p.S622S	AGAP1_uc002vvt.3_Silent_p.S569S	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	622	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GCGGGAACTCCCACTGTGTGG	0.627000														56			24		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351410	89351410	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89351410G>A	uc002fmx.1	-	8	2001	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	ANKRD11_uc002fmy.1_Silent_p.L514L|ANKRD11_uc002fnc.1_Silent_p.L514L|ANKRD11_uc002fnb.1_Silent_p.L471L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	514	Ser-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GAGCTGAACAGGGAGGGGTCC	0.652000														47			19		0	0	1	0	0
EIF3F	8665	broad.mit.edu	37	11	8014500	8014500	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:8014500C>T	uc001mfw.3	+	3	1037	c.582C>T	c.(580-582)gcC>gcT	p.A194A	EIF3F_uc010rbj.2_Silent_p.A45A	NM_003754	NP_003745	O00303	EIF3F_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit F (EIF3F), mRNA.	194	MPN.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCGAGAGGCCCCCAACCCCA	0.562000														109			26		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21695445	21695445	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21695445C>T	uc001rfb.3	-	12	1885	c.1630G>A	c.(1630-1632)Gat>Aat	p.D544N		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	544					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCAGTAGGATCAGCCACGTGC	0.507000														38			10		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18770762	18770762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:18770762C>T	uc003zne.4	+	16	2532	c.2380C>T	c.(2380-2382)Ctc>Ttc	p.L794F		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	794	TSP type-1 7.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGAGTGGCTTCTCTCAGACTG	0.483000														17			14		0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790452	4790452	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4790452G>A	uc010qyl.2	-	0	696	c.696C>T	c.(694-696)tcC>tcT	p.S232S		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	232						integral to membrane	olfactory receptor activity	p.A231A(1)		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)		ATTCTTCAGGGGAGGCAATTC	0.458000														108			54		0	0	1	0	0
C19orf45	374877	broad.mit.edu	37	19	7570318	7570318	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7570318G>A	uc002mgm.2	+	4	1032	c.891G>A	c.(889-891)gaG>gaA	p.E297E	C19orf45_uc010xjo.1_5'Flank	NM_198534	NP_940936	Q8NA69	CS045_HUMAN	Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA.	297										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						ATGCCAGGGAGCCAGGTGAGA	0.642000														73			20		0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82319705	82319705	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:82319705C>T	uc004ald.3	+	8	1445	c.596C>T	c.(595-597)tCa>tTa	p.S199L	TLE4_uc004alc.3_Missense_Mutation_p.S206L|TLE4_uc010mpr.3_Missense_Mutation_p.S85L|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Missense_Mutation_p.S174L|TLE4_uc010mps.3_Missense_Mutation_p.S199L|TLE4_uc004alf.3_Missense_Mutation_p.S145L	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						CAGAGCTCTTCAGTATCCCCA	0.403000														166			72		0	0	1	0	0
FSTL1	11167	broad.mit.edu	37	3	120122201	120122201	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:120122201C>T	uc003eds.3	-	8	757	c.582_splice	c.e8-1	p.R194_splice	FSTL1_uc011bjh.2_Splice_Site_p.R159_splice	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	Homo sapiens follistatin-like 1 (FSTL1), mRNA.	194	EF-hand 2.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		CACAGAGTCCCCTGAAACAAA	0.468000														67			5		0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52565264	52565264	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52565264T>G	uc001rzw.3	-	6	1433	c.1382A>C	c.(1381-1383)aAg>aCg	p.K461T	KRT80_uc001rzy.3_3'UTR|KRT80_uc001rzx.3_Missense_Mutation_p.K426T	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	426						keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GCTGCCCTTCTTCTTTCGGGA	0.577000														52			21		0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147795922	147795922	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:147795922C>T	uc003ikx.4	-	7	1073	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	TTC29_uc003ikw.4_Missense_Mutation_p.E249K|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.E249K	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	249							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGTTTGTATTCTTTATTTTCT	0.403000														21			6		0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7014914	7014914	+	Silent	SNP	C	T	T	rs116430099	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7014914C>T	uc001qrt.4	+	1	509	c.117C>T	c.(115-117)ttC>ttT	p.F39F	LRRC23_uc009zfg.2_Intron|LRRC23_uc001qrp.3_Silent_p.F39F|LRRC23_uc001qrq.3_Silent_p.F39F|LRRC23_uc001qrs.3_Missense_Mutation_p.S25F|LRRC23_uc009zfh.3_Silent_p.F39F	NM_001135217	NP_964013	Q53EV4	LRC23_HUMAN	Homo sapiens leucine rich repeat containing 23 (LRRC23), transcript variant 3, mRNA.	39										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						gggaagagTTCCCTGAGGAAG	0.557000														51			20		0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15265021	15265021	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:15265021C>T	uc003bzn.3	+	5	948	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	Homo sapiens calpain 7 (CAPN7), mRNA.	226					proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						ATGTTCCTTTCATGAATGTTG	0.318000														105			29		0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39064597	39064597	+	Silent	SNP	G	A	A	rs138598029	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:39064597G>A	uc001rls.1	-	18	1524	c.1440C>T	c.(1438-1440)gtC>gtT	p.V480V	CPNE8_uc001rlr.1_Silent_p.V139V	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	480	VWFA.							p.M479I(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CATCCAATTCGACCATTGCTT	0.338000														45			17		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291465	33291465	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:33291465G>A	uc001wrq.3	+	12	4616	c.4446G>A	c.(4444-4446)atG>atA	p.M1482I		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1482					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AATTACCAATGATAATGAAAC	0.358000														52			21		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7651534	7651534	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7651534C>T	uc001qsz.3	-	3	836	c.708G>A	c.(706-708)tgG>tgA	p.W236*	CD163_uc001qta.3_Nonsense_Mutation_p.W236*|CD163_uc009zfw.2_Nonsense_Mutation_p.W236*	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	236	SRCR 2.				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						GTTTGCAGTTCCAGAGAGCTG	0.433000														172			55		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61962822	61962822	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61962822C>T	uc001jky.3	-	11	1668	c.1330G>A	c.(1330-1332)Ggg>Agg	p.G444R	ANK3_uc010qih.2_Missense_Mutation_p.G427R|ANK3_uc001jkz.4_Missense_Mutation_p.G438R|ANK3_uc001jlb.1_5'UTR|ANK3_uc001jlc.1_Missense_Mutation_p.G105R	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	444					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						TTTACATGCCCCATGAAGGCA	0.433000														59			16		0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	14925592	14925592	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:14925592C>T	uc001avm.4	+	0	380	c.99C>T	c.(97-99)acC>acT	p.T33T	KAZN_uc009vog.1_Silent_p.T33T	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	33					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TCACGGCCACCAACCGGAGAC	0.731000														40			12		0	0	1	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239242627	239242627	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:239242627G>A	uc002vye.3	+	6	1133	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	TRAF3IP1_uc002vyf.3_Silent_p.K338K	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	Homo sapiens TNF receptor-associated factor 3 interacting protein 1 (TRAF3IP1), transcript variant 1, mRNA.	338	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GAGCTTCCAAGTCATTGACAA	0.299000														29			6		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921586	247921586	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247921586C>T	uc010pza.2	-	0	123	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41W(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGAGCATGTTCCCCAAGGTGG	0.483000														31			10		0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52799986	52799986	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52799986G>A	uc001sai.1	-	0	191	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	26	Head.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GTGACCATCCGGGGCATGACA	0.622000														32			4		0	0	1	0	0
TCRBV20S1	0	broad.mit.edu	37	7	142032418	142032418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142032418C>T	uc011krs.1	+	1	271	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron					Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds.																		ATCGGGGCTTCCCCGTGATCG	0.552000														16			14		0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612962	53612962	+	Silent	SNP	C	T	T	rs148927334		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53612962C>T	uc002qax.3	-	6	829	c.480G>A	c.(478-480)acG>acA	p.T160T	ZNF415_uc010yds.2_Silent_p.T112T|ZNF415_uc010ydt.2_Silent_p.T112T|ZNF415_uc002qau.3_Silent_p.T99T|ZNF415_uc002qav.3_Silent_p.T124T|ZNF415_uc002qaw.3_Silent_p.T112T|ZNF415_uc002qay.3_Silent_p.T99T|ZNF415_uc002qaz.3_Silent_p.T160T|ZNF415_uc002qba.3_5'UTR			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	p.Y160C(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CTTTTGGGGCCGTAGTCACTT	0.383000														106			7		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307109	54307109	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54307109C>T	uc021smr.1	+	0	2009	c.2009C>T	c.(2008-2010)tCa>tTa	p.S670L	UNC13C_uc021sms.1_Missense_Mutation_p.S670L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	670					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)		GGCTTGGATTCATCCACCCAG	0.413000														69			30		0	0	1	0	0
KLHL5	51088	broad.mit.edu	37	4	39083717	39083717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:39083717C>T	uc003gtr.2	+	3	1259	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	KLHL5_uc003gtp.3_Missense_Mutation_p.R280C|KLHL5_uc003gtq.3_Missense_Mutation_p.R139C|KLHL5_uc003gts.3_Missense_Mutation_p.R326C|KLHL5_uc003gtt.3_Missense_Mutation_p.R265C	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	326						cytoplasm|cytoskeleton	actin binding	p.R326C(6)|p.R326G(2)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TCTTGGAATTCGTTCTTTTGC	0.393000														221			72		0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41086272	41086272	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41086272C>T	uc002oob.3	+	6	492	c.443C>T	c.(442-444)cCt>cTt	p.P148L	SHKBP1_uc002ooc.3_Missense_Mutation_p.P148L|SHKBP1_uc010xvl.1_Missense_Mutation_p.P71L|SHKBP1_uc002ooe.3_5'UTR|SHKBP1_uc010xvm.2_5'UTR|SHKBP1_uc010xvn.2_Missense_Mutation_p.P26L	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	148						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTAGTGGGGCCTCAGCAGCTA	0.582000														41			13		0	0	1	0	0
CLP1	10978	broad.mit.edu	37	11	57427291	57427291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57427291C>T	uc001nkw.3	+	1	482	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	CLP1_uc010rjw.2_Missense_Mutation_p.P115S|CLP1_uc009yml.3_Missense_Mutation_p.P115S	NM_006831	NP_006822	Q92989	CLP1_HUMAN	Homo sapiens CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae) (CLP1), transcript variant 1, mRNA.	115					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|tRNA splicing, via endonucleolytic cleavage and ligation|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						AGAGCGAGGTCCCCGAGTGAT	0.552000														42			14		0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64056670	64056670	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64056670C>T	uc010rni.2	+	8	1289	c.1261C>T	c.(1261-1263)Ccc>Tcc	p.P421S	GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_3'UTR|GPR137_uc001nzi.3_3'UTR|GPR137_uc021qkt.1_Missense_Mutation_p.P363S|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.	363						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CAGACGTGATCCCCCTCCCTC	0.647000														76			30		0	0	1	0	0
MOS	4342	broad.mit.edu	37	8	57026446	57026446	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:57026446C>T	uc011leb.2	-	0	96	c.96G>A	c.(94-96)gcG>gcA	p.A32A		NM_005372	NP_005363	P00540	MOS_HUMAN	Homo sapiens v-mos Moloney murine sarcoma viral oncogene homolog (MOS), mRNA.	32							ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GAAGCAGCTTCGCAGGTAGCT	0.701000														22			13		0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1456817	1456817	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:1456817C>T	uc002wfg.2	-	4	1252	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	SIRPB2_uc002wfh.3_Missense_Mutation_p.E244K	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA.	342						integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACCCCTCACTCTTGACCCTTG	0.612000														94			30		0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178565851	178565851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:178565851C>T	uc002ulq.3	-	13	2560	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K	PDE11A_uc002ulp.3_Missense_Mutation_p.E304K|PDE11A_uc002ulr.3_Missense_Mutation_p.E498K|PDE11A_uc002uls.1_Missense_Mutation_p.E390K|PDE11A_uc002ult.1_Missense_Mutation_p.E498K|PDE11A_uc002ulu.1_Missense_Mutation_p.E390K	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	748	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.S747G(1)		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)			GCCTGTACCTCACTTTGAAGG	0.502000									Primary Pigmented Nodular Adrenocortical Disease, Familial					27			7		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842311	5842311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5842311C>T	uc010qzp.2	+	0	746	c.746C>T	c.(745-747)tCc>tTc	p.S249F	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	249			S -> A (in dbSNP:rs8181529).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACATGTGTTCCATTGTGATC	0.428000														117			11		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143921	55143921	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55143921C>T	uc002qgj.3	+	6	1008	c.668C>T	c.(667-669)tCt>tTt	p.S223F	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.S223F|LILRB1_uc002qgk.3_Missense_Mutation_p.S223F|LILRB1_uc002qgm.3_Missense_Mutation_p.S223F|LILRB1_uc010erq.3_Missense_Mutation_p.S223F|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.	223	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			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)		CCAGGTGTTTCTAAGAAGCCA	0.557000										HNSCC(37;0.09)				80			34		0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97604280	97604280	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:97604280G>A	uc010qoj.2	+	4	560	c.497G>A	c.(496-498)aGg>aAg	p.R166K	ENTPD1_uc001kle.1_Missense_Mutation_p.R161K|ENTPD1_uc001kli.4_Missense_Mutation_p.R161K|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Missense_Mutation_p.R46K|ENTPD1_uc010qol.2_Missense_Mutation_p.R46K|ENTPD1_uc001klh.4_Missense_Mutation_p.R154K|ENTPD1_uc010qom.2_Missense_Mutation_p.R154K|ENTPD1_uc010qon.2_Missense_Mutation_p.R16K|ENTPD1_uc009xva.3_Missense_Mutation_p.R16K	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	154					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GTGGTGGAGAGGAGCCTCAGC	0.458000														188			15		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160463	132160463	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:132160463C>T	uc011mvf.2	-	0	1838	c.1786G>A	c.(1786-1788)Gat>Aat	p.D596N	USP26_uc010nrm.1_Missense_Mutation_p.D596N	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	596					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GCCAGGATATCTTTGGATTCC	0.398000														24			31		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903153	5903153	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:5903153G>A	uc002wmg.3	+	3	669	c.363G>A	c.(361-363)gaG>gaA	p.E121E	CHGB_uc010zqz.2_Intron	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	121						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAGACACAGAGAAATGGGCAG	0.627000														22			21		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24436904	24436904	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:24436904C>T	uc003ned.1	-	21	2369	c.2258G>A	c.(2257-2259)gGa>gAa	p.G753E		NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	753						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GCCGTCTTCTCCCCCAATCAG	0.443000														74			28		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109707875	109707875	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:109707875C>T	uc010agk.2	+	26	3889	c.3267C>T	c.(3265-3267)gtC>gtT	p.V1089V	MYO16_uc001vqt.1_Silent_p.V1067V|MYO16_uc001vqu.1_Silent_p.V867V|MYO16_uc010tjh.1_Silent_p.V579V	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1067	Myosin head-like 2.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATATTGGGGTCCTGGAGATGG	0.428000														121			31		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118383	118383	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000205.1:118383G>A	uc002kgk.4	+	0		c.1761G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		ACATCCCAGTGACTGACAACC	0.572000														134			9		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48762084	48762084	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48762084C>T	uc002isl.3	+	28	4208	c.4128C>T	c.(4126-4128)ttC>ttT	p.F1376F	ABCC3_uc002isn.3_Silent_p.F130F	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1376	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCATCCTGTTCTCGGGGACCC	0.602000														90			25		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79351739	79351739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:79351739G>A	uc021yaw.1	+	2	615	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	142	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CGGCTCCCTAGAGCTCTACCT	0.572000														86			29		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22025612	22025612	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:22025612G>A	uc001rfh.3	-	15	2165	c.2145C>T	c.(2143-2145)ctC>ctT	p.L715L	ABCC9_uc001rfi.1_Silent_p.L715L	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	715	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGATGGCAAGGAGAAGAGAGG	0.423000														172			77		0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28127349	28127349	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:28127349G>A	uc001url.4	-	7	2083	c.1774C>T	c.(1774-1776)Ccc>Tcc	p.P592S	LNX2_uc001urm.1_Missense_Mutation_p.P592S	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	592							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CAGTACCTGGGAAGCCCAAGC	0.473000														86			9		0	0	1	0	0
MTAP	4507	broad.mit.edu	37	9	21859377	21859377	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21859377C>T	uc003zph.3	+	6	879	c.766C>T	c.(766-768)Cct>Tct	p.P256S	MTAP_uc003zpi.1_Intron|MTAP_uc010mit.3_Non-coding_Transcript|MTAP_uc011lnk.2_Missense_Mutation_p.P273S|MTAP_uc011lnl.2_Missense_Mutation_p.P189S	NM_002451	NP_002442	Q13126	MTAP_HUMAN	Homo sapiens methylthioadenosine phosphorylase (MTAP), mRNA.	256					nucleoside metabolic process	cytoplasm	S-methyl-5-thioadenosine phosphorylase activity|phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	CACTACCATACCTCAGATAGG	0.458000														47			5		0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129691083	129691083	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:129691083G>A	uc003vpi.3	-	0	151	c.124C>T	c.(124-126)Ccg>Tcg	p.P42S		NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	42					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					CCCTCTTCCGGGGCAATCCCC	0.597000														84			42		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117110	117110	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000205.1:117110C>T	uc002kgk.4	+	0		c.488C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		ACGCAGACTCCTGCGAGTTCC	0.438000														99			8		0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101567960	101567960	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:101567960C>T	uc001kqf.2	+	12	1928	c.1789C>T	c.(1789-1791)Ccc>Tcc	p.P597S		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	597	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GAGCATGCTTCCCATGATGAT	0.483000														161			58		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119729101	119729101	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:119729101G>A	uc002tln.1	+	3	583	c.451G>A	c.(451-453)Ggc>Agc	p.G151S	MARCO_uc010yyf.1_Missense_Mutation_p.G73S	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	151	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.G151G(1)		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						AGGTGAACAAGGCGCCCCAGG	0.582000														88			39		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170965663	170965663	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:170965663C>T	uc010plz.2	+	13	1507	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A	C1orf129_uc001ghg.3_Silent_p.A451A|C1orf129_uc009wvy.3_Silent_p.A258A	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	451							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCCAGGATGCCCTGAGAGTTC	0.418000														86			30		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71511997	71511997	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:71511997C>T	uc001xmo.2	+	19	4461	c.4015C>T	c.(4015-4017)Cga>Tga	p.R1339*	PCNX_uc010are.1_Nonsense_Mutation_p.R1228*|PCNX_uc010arf.1_Nonsense_Mutation_p.R199*	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1339						integral to membrane		p.R1339*(2)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTATGAAGTTCGAAGTAAGTA	0.343000														59			24		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38936375	38936375	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38936375C>T	uc021wvy.1	-	14	2683	c.2484G>A	c.(2482-2484)agG>agA	p.R828R	SCN11A_uc010hhn.1_5'UTR	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	828					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTTTAGTTTTCCTGGCCTCTC	0.468000														58			20		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	140990817	140990817	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:140990817C>T	uc002tvj.1	-	90	14710	c.13738G>A	c.(13738-13740)Gat>Aat	p.D4580N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4580					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCTTTCATCAACACTTCCT	0.318000										TSP Lung(27;0.18)				55			15		0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83224840	83224840	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83224840G>A	uc002bit.3	-	4	956	c.819C>T	c.(817-819)ttC>ttT	p.F273F	CPEB1_uc002bir.3_Silent_p.F138F|CPEB1_uc002bis.3_Silent_p.F138F|CPEB1_uc010uod.2_5'UTR|CPEB1_uc002biq.3_Silent_p.F138F|CPEB1_uc010uoe.2_Silent_p.F216F|CPEB1_uc002biu.3_Silent_p.F240F|CPEB1_uc010uof.2_Silent_p.F138F|CPEB1_uc002biv.3_Silent_p.F213F|CPEB1_uc002bip.3_5'UTR	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	213					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACAGAGACAGGAAGGGCAGAG	0.493000														32			6		0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21548263	21548263	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:21548263G>A	uc001bek.2	-	17	2188	c.2113C>T	c.(2113-2115)Ctc>Ttc	p.L705F	ECE1_uc001bem.2_Missense_Mutation_p.L689F|ECE1_uc001bej.2_Missense_Mutation_p.L693F|ECE1_uc001bei.2_Missense_Mutation_p.L702F|ECE1_uc010odl.1_Intron	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	705					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGGAAGAAGAGCTGGTTATTG	0.532000														231			84		0	0	1	0	0
ZNF74	7625	broad.mit.edu	37	22	20760871	20760871	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:20760871C>T	uc010gsm.3	+	5	1760	c.1548C>T	c.(1546-1548)atC>atT	p.I516I	ZNF74_uc002zsg.3_Silent_p.I445I|ZNF74_uc002zsh.3_Silent_p.I516I|ZNF74_uc002zsi.3_Silent_p.I445I|ZNF74_uc010gsn.3_Silent_p.I445I	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.	516					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGTCCCTCATCGTGCACCAGC	0.592000														98			32		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081132	152081132	+	Missense_Mutation	SNP	C	T	T	rs71585886		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152081132C>T	uc009wne.1	-	2	4833	c.4561G>A	c.(4561-4563)Gaa>Aaa	p.E1521K	TCHH_uc001ezp.2_Missense_Mutation_p.E1521K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1521	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGCTGTTCCTCCTCGAGG	0.607000														128			25		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123019089	123019089	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:123019089C>T	uc003egh.2	-	14	2778	c.2778G>A	c.(2776-2778)caG>caA	p.Q926Q	ADCY5_uc021xdd.1_Silent_p.Q576Q|ADCY5_uc003egg.2_Silent_p.Q559Q|ADCY5_uc003egi.1_Silent_p.Q485Q	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	926					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGCAGCTGATCTGCAGGAACA	0.637000														28			13		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96904252	96904252	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:96904252G>A	uc001yfn.2	+	6	734	c.690_splice	c.e6+1	p.K230_splice		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	230					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)		CATTTTTTAAGGTATGGCTTT	0.398000														64			6		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123695634	123695634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:123695634C>T	uc010nqy.3	-	13	2385	c.2321G>A	c.(2320-2322)cGa>cAa	p.R774Q	ODZ1_uc011muj.2_Missense_Mutation_p.R773Q|ODZ1_uc004euj.3_Missense_Mutation_p.R774Q	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	774	EGF-like 8.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.R776Q(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CAGGGTACATCGTCCATTTCC	0.473000														28			40		0	0	1	0	0
VRK2	7444	broad.mit.edu	37	2	58359011	58359011	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:58359011C>T	uc002rzo.2	+	11	1490	c.745C>T	c.(745-747)Ccc>Tcc	p.P249S	VRK2_uc010fcb.2_Missense_Mutation_p.P249S|VRK2_uc002rzt.3_Missense_Mutation_p.P131S|VRK2_uc002rzs.3_Missense_Mutation_p.P249S|VRK2_uc002rzv.3_Missense_Mutation_p.P249S|VRK2_uc010fcd.3_Missense_Mutation_p.P226S|VRK2_uc002rzu.3_Missense_Mutation_p.P249S|VRK2_uc010fcc.3_Missense_Mutation_p.P131S|VRK2_uc002rzp.3_Missense_Mutation_p.P249S|VRK2_uc010ypg.2_Missense_Mutation_p.P249S|VRK2_uc010yph.1_Missense_Mutation_p.P131S	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	Homo sapiens vaccinia related kinase 2 (VRK2), transcript variant 4, mRNA.	249	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TGGGAAACTTCCCTGGGAACA	0.473000														84			38		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33588480	33588480	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:33588480G>A	uc021vft.1	+	28	4317	c.4294G>A	c.(4294-4296)Gga>Aga	p.G1432R	LTBP1_uc002rou.3_Missense_Mutation_p.G1106R|LTBP1_uc002rov.3_Missense_Mutation_p.G1053R|LTBP1_uc010ymz.2_Missense_Mutation_p.G1064R|LTBP1_uc010yna.2_Missense_Mutation_p.G1011R|LTBP1_uc010ynb.2_Missense_Mutation_p.G330R	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1432	EGF-like 15; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCTACTTTTTGGACAAGAAAT	0.383000														77			22		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626553	142626553	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142626553G>A	uc003wby.1	-	3	721	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	TRPV5_uc003wbz.3_Missense_Mutation_p.R153C	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	153					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.R153L(1)|p.R153H(1)|p.R153R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGACTACGGCGGAAGGCAGTG	0.617000														74			32		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370313	240370313	+	Missense_Mutation	SNP	G	A	A	rs140911005		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240370313G>A	uc010pye.2	+	5	2438	c.2213G>A	c.(2212-2214)cGg>cAg	p.R738Q	FMN2_uc010pyd.2_Missense_Mutation_p.R734Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	734					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGGAAGTACGGCATCATAGG	0.557000														40			10		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394440	164394441	+	Missense_Mutation	DNP	CC	TT	TT	rs147436359		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:164394440_164394441CC>TT	uc003iqp.4	-	0	607_608	c.446_447GG>AA	c.(445-447)cgg>cAA	p.R149Q		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	149						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGCAGAACACCCGGTAGCTGGC	0.530000														86			19		0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145537316	145537316	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:145537316G>A	uc003lnx.1	-	8	1052	c.814C>T	c.(814-816)Ctt>Ttt	p.L272F	LARS_uc011dbq.1_Missense_Mutation_p.L226F|LARS_uc011dbr.1_Missense_Mutation_p.L218F|LARS_uc011dbs.1_Missense_Mutation_p.L245F	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	272	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TATGGCTCAAGCACCTTCAAT	0.348000														64			34		0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109766349	109766349	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:109766349G>A	uc021xqo.1	-	27	1630	c.1574C>T	c.(1573-1575)cCt>cTt	p.P525L	COL25A1_uc003hze.1_Missense_Mutation_p.P525L|COL25A1_uc021xqp.1_Missense_Mutation_p.P525L|COL25A1_uc003hzg.3_Missense_Mutation_p.P525L|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.P283L	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	525						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ACTTACAGAAGGACCCTGTGG	0.453000														184			70		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15996760	15996760	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15996760C>T	uc002nbs.1	-	8	1139	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K	CYP4F2_uc010xot.1_Silent_p.K214K|CYP4F2_uc010xou.1_3'UTR	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	363					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCTCACGGTCCTTCAGAAGTT	0.577000														79			32		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526469	84526469	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:84526469C>T	uc004eeq.3	+	9	2945	c.2059C>T	c.(2059-2061)Cat>Tat	p.H687Y	ZNF711_uc004eep.3_Missense_Mutation_p.H641Y|ZNF711_uc004eeo.3_Missense_Mutation_p.H641Y|ZNF711_uc011mqy.1_Missense_Mutation_p.H240Y	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	641					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TAGTGATATCCATAAGGGTAG	0.388000														14			17		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76735651	76735651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:76735651C>T	uc001jwn.1	+	7	2049	c.1556C>T	c.(1555-1557)cCc>cTc	p.P519L	KAT6B_uc001jwm.1_Intron|KAT6B_uc001jwo.1_Intron|KAT6B_uc001jwp.1_Intron	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	519	Negatively regulates HAT activity.|Ser-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TCTCCCTCTCCCCAGAGTTCT	0.547000														86			35		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834543	101834543	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:101834543G>A	uc003knn.3	-	0	178	c.6C>T	c.(4-6)ttC>ttT	p.F2F	SLCO6A1_uc003kno.3_Silent_p.F2F|SLCO6A1_uc003knp.3_Silent_p.F2F|SLCO6A1_uc003knq.3_Silent_p.F2F	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	2						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CGACGCCTACGAACATGGCTC	0.711000														137			62		0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76232504	76232504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:76232504C>T	uc010ask.2	+	20	2125	c.1850C>T	c.(1849-1851)tCc>tTc	p.S617F	TTLL5_uc001xrx.3_Missense_Mutation_p.S603F|TTLL5_uc001xrz.3_Missense_Mutation_p.S178F|TTLL5_uc001xry.1_Non-coding_Transcript	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	603					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAGGAGGCTTCCCAGGAGGAG	0.403000														39			20		0	0	1	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20873685	20873685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20873685G>A	uc002dhz.3	-	1	317	c.176C>T	c.(175-177)gCc>gTc	p.A59V	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) (DCUN1D3), mRNA.	59					negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of apoptosis|response to UV-C|response to gamma radiation	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GGCAGCCTCGGCCTTCTTGGT	0.597000														159			83		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91709262	91709262	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:91709262C>T	uc003ulg.3	+	30	8040	c.7815C>T	c.(7813-7815)acC>acT	p.T2605T	AKAP9_uc003ulf.3_Silent_p.T2597T|AKAP9_uc003uli.3_Silent_p.T2228T|AKAP9_uc003ulj.3_Silent_p.T375T	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2617	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGCATTAACCTTGAGAATAT	0.289000			T	BRAF	papillary thyroid									80			43		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83931724	83931724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83931724G>A	uc002bjt.1	-	3	2367	c.2279C>T	c.(2278-2280)cCc>cTc	p.P760L	BNC1_uc010uos.1_Missense_Mutation_p.P748L	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	760					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CCTGCGGGAGGGAAAGGTAGC	0.428000														33			20		0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10796537	10796537	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:10796537C>T	uc021ylk.1	-	8	1119	c.837G>A	c.(835-837)ttG>ttA	p.L279L	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Silent_p.L279L|MAK_uc021yll.1_Silent_p.L279L|MAK_uc010jov.2_Non-coding_Transcript|MAK_uc021ylm.1_Non-coding_Transcript	NM_001242957	NP_001229886	P20794	MAK_HUMAN	Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA.	279	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				ATGGGTGTTTCAATGCCTATA	0.373000														63			15		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41900474	41900474	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:41900474C>T	uc010skn.2	+	3	1068	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	PDZRN4_uc001rmq.4_Missense_Mutation_p.P96S|PDZRN4_uc009zjz.3_Missense_Mutation_p.P94S|PDZRN4_uc001rmr.3_5'Flank	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	354							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCCACCTACCCCTCCAGTGCC	0.483000														89			16		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067975	11067975	+	Silent	SNP	C	T	T	rs144261418		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:11067975C>T	uc010hdq.3	+	9	1419	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	336					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TCGCAGGATTCGTCATCTTCT	0.592000														103			35		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113562671	113562671	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113562671C>T	uc022blv.1	+	14	2147	c.2013C>T	c.(2011-2013)tcC>tcT	p.S671S	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Silent_p.S582S|MUSK_uc022blu.1_Silent_p.S572S	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	671	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GCAGCATGTCCCCTCACACCG	0.572000														120			35		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8485972	8485972	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:8485972C>T	uc003zkk.3	-	27	3588	c.2845G>A	c.(2845-2847)Ggc>Agc	p.G949S	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	949	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTGATAATGCCATTTCTCTCT	0.478000										TSP Lung(15;0.13)				91			10		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157514069	157514069	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157514069G>A	uc009wsm.3	-	4	985	c.827C>T	c.(826-828)tCc>tTc	p.S276F	FCRL5_uc001fqu.3_Missense_Mutation_p.S276F|FCRL5_uc010phv.1_Missense_Mutation_p.S276F|FCRL5_uc010phw.1_Missense_Mutation_p.S191F|FCRL5_uc001fqv.1_Missense_Mutation_p.S276F|FCRL5_uc010phx.2_Missense_Mutation_p.S27F	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	276						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTGTATCCAGGATCTCGGGCT	0.507000														155			26		0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72443165	72443165	+	Nonstop_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72443165T>G	uc002jkp.3	+	3	1970	c.1459T>G	c.(1459-1461)Tga>Gga	p.*487G	GPRC5C_uc002jkq.3_3'UTR|GPRC5C_uc002jkr.3_Nonstop_Mutation_p.*454G|GPRC5C_uc002jkt.3_Intron|GPRC5C_uc002jku.3_Intron	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	0						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CGTGTGGGACTGAGTCAGCGG	0.667000														84			30		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522873	23522873	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:23522873C>T	uc003jgo.3	+	7	943	c.761C>T	c.(760-762)cCt>cTt	p.P254L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	254	SET.				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						TCAGGCATCCCTCAGGCTGGG	0.582000										HNSCC(3;0.000094)				57			5		0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207358	58207358	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:58207358G>A	uc010rkh.2	-	0	289	c.267C>T	c.(265-267)ttC>ttT	p.F89F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F89L(2)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TATATAATATGAATTTGTCTC	0.453000														60			24		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11642314	11642314	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11642314G>A	uc002gne.3	+	28	6000	c.5932G>A	c.(5932-5934)Ggc>Agc	p.G1978S	DNAH9_uc010coo.3_Missense_Mutation_p.G1272S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1978	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGCTATGCTGGCCGCACAGA	0.488000														37			11		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74623563	74623563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74623563G>A	uc002axo.3	+	14	2091	c.1697G>A	c.(1696-1698)cGg>cAg	p.R566Q	CCDC33_uc002axp.3_Missense_Mutation_p.R388Q|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Missense_Mutation_p.R159Q|CCDC33_uc002axr.3_Missense_Mutation_p.R159Q	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	769							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AAGATGGAGCGGGTGCTGGAG	0.642000														57			10		0	0	1	0	0
GMCL1	64395	broad.mit.edu	37	2	70096880	70096880	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:70096880C>T	uc002sfu.3	+	11	1455	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F		NM_178439	NP_848526	Q96IK5	GMCL1_HUMAN	Homo sapiens germ cell-less homolog 1 (Drosophila) (GMCL1), mRNA.	416					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GTTTTAACTTCGGCTTCGACC	0.358000														111			22		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33134586	33134586	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33134586C>T	uc003ocx.1	-	58	4477	c.4249G>A	c.(4249-4251)Gga>Aga	p.G1417R	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G1331R|COL11A2_uc003ocz.1_Missense_Mutation_p.G1310R	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1417	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCAATCAGTCCAATGAGACCT	0.607000														39			4		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15600127	15600127	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15600127C>T	uc001ioc.1	-	25	2712	c.2712G>A	c.(2710-2712)agG>agA	p.R904R	ITGA8_uc010qcb.1_Silent_p.R889R	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	904					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CATCCCTCTTCCTGACAAGAT	0.498000														88			30		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140362060	140362060	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140362060C>T	uc003lii.3	+	3	3230	c.2625_splice	c.e3-1	p.S875_splice	PCDHAC2_uc003lha.2_Splice_Site_p.S554_splice|PCDHAC2_uc003lhb.2_Splice_Site_p.S818_splice|PCDHAC2_uc003lhd.2_Splice_Site_p.S816_splice|PCDHAC2_uc003lhf.2_Splice_Site_p.S818_splice|PCDHAC2_uc003lhh.1_Splice_Site_p.S815_splice|PCDHAC2_uc003lhi.2_Splice_Site_p.S815_splice|PCDHAC2_uc003lhl.2_Splice_Site_p.S804_splice|PCDHAC2_uc003lhk.1_Splice_Site_p.S804_splice|PCDHAC2_uc003lho.2_Splice_Site_p.S818_splice|PCDHAC2_uc003lhn.2_Splice_Site_p.S554_splice|PCDHAC2_uc003lhq.2_Splice_Site_p.S805_splice|PCDHAC2_uc003lhs.2_Splice_Site_p.S818_splice|PCDHAC2_uc003lhu.2_Splice_Site_p.S818_splice|PCDHAC2_uc003lhw.2_Splice_Site_p.S553_splice|PCDHAC2_uc003lhx.2_Splice_Site_p.S816_splice|PCDHAC2_uc003lia.2_Splice_Site_p.S817_splice|PCDHAC2_uc003lic.2_Splice_Site_p.S809_splice|PCDHAC2_uc003lif.2_Splice_Site_p.S818_splice|PCDHAC2_uc003lie.1_Splice_Site_p.S818_splice|PCDHAC2_uc003lih.2_Splice_Site_p.S831_splice	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	875	4 X 4 AA repeats of P-X-X-P.				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)			GTTTATTCAGCTCTGTGCACC	0.502000														56			28		0	0	1	0	0
FOXR1	283150	broad.mit.edu	37	11	118850327	118850327	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118850327G>A	uc001pui.3	+	3	785	c.560G>A	c.(559-561)aGa>aAa	p.R187K	FOXR1_uc001puj.3_Non-coding_Transcript|FOXR1_uc001puk.3_Intron	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	Homo sapiens forkhead box R1 (FOXR1), mRNA.	187					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CTGGCATTAAGAAACAGTTCC	0.637000														111			44		0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121997	50121997	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50121997G>A	uc001jhd.3	-	0	284	c.204C>T	c.(202-204)tcC>tcT	p.S68S	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.S68S	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	68						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						ACTTGGAGATGGAGTCAGGGA	0.532000														43			11		0	0	1	0	0
USP38	84640	broad.mit.edu	37	4	144133528	144133528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:144133528C>T	uc003ijb.3	+	7	2089	c.1555C>T	c.(1555-1557)Ccc>Tcc	p.P519S	USP38_uc003ija.4_Missense_Mutation_p.P519S|USP38_uc003ijc.3_Non-coding_Transcript	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.	519					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					ATGGTTTACTCCCAGATCACA	0.378000														93			23		0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89653337	89653337	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:89653337C>T	uc003hse.1	-	21	2867	c.2659G>A	c.(2659-2661)Ggg>Agg	p.G887R	FAM13A_uc011cdp.1_5'UTR|FAM13A_uc003hsa.1_Missense_Mutation_p.G330R|FAM13A_uc003hsb.1_Missense_Mutation_p.G561R|FAM13A_uc003hsd.1_Missense_Mutation_p.G533R|FAM13A_uc003hsc.1_Missense_Mutation_p.G547R|FAM13A_uc011cdq.1_Missense_Mutation_p.G533R|FAM13A_uc003hsf.1_Missense_Mutation_p.G473R|FAM13A_uc003hsg.1_Missense_Mutation_p.G330R	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	887					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TCTTCTGACCCCTCCTCTTCT	0.413000														60			30		0	0	1	0	0
TTYH1	57348	broad.mit.edu	37	19	54946752	54946752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54946752G>A	uc002qfr.3	+	10	1278	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	TTYH1_uc010yey.2_Missense_Mutation_p.R416Q|TTYH1_uc002qfq.3_Missense_Mutation_p.E386K|TTYH1_uc002qft.3_Missense_Mutation_p.E386K	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN	Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA.	386					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GGGCCTGTGCGAAGACGCCCT	0.677000														46			18		0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153546	5153546	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5153546G>A	uc010qyx.2	-	0	327	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAATTGCCTGGAATGAGTGAA	0.453000														47			13		0	0	1	0	0
TMEM198	130612	broad.mit.edu	37	2	220412343	220412343	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220412343G>A	uc002vme.3	+	3	867	c.282G>A	c.(280-282)gcG>gcA	p.A94A	TMEM198_uc002vmf.3_Silent_p.A94A	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	Homo sapiens transmembrane protein 198 (TMEM198), mRNA.	94	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GTGCTGGGGCGAGCGCGGGCA	0.657000														165			93		0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97192238	97192238	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:97192238G>A	uc001kkp.3	-	3	313	c.268C>T	c.(268-270)Cct>Tct	p.P90S	SORBS1_uc001kkn.3_Missense_Mutation_p.P46S|SORBS1_uc001kkm.3_Missense_Mutation_p.P78S|SORBS1_uc001kko.3_Missense_Mutation_p.P90S|SORBS1_uc001kkq.3_Missense_Mutation_p.P90S|SORBS1_uc001kkr.3_Missense_Mutation_p.P58S|SORBS1_uc001kks.3_Missense_Mutation_p.P58S|SORBS1_uc001kkt.3_Non-coding_Transcript|SORBS1_uc001kku.3_Missense_Mutation_p.P90S|SORBS1_uc001kkv.3_Missense_Mutation_p.P58S|SORBS1_uc001kkw.3_Missense_Mutation_p.P90S|SORBS1_uc010qoe.2_Missense_Mutation_p.P58S|SORBS1_uc010qof.1_Missense_Mutation_p.P58S|SORBS1_uc001kkx.1_Missense_Mutation_p.P58S	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	90					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GTTTCCTGAGGGCTCGCAGGG	0.572000														119			26		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101739420	101739420	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:101739420C>T	uc001tia.1	+	36	4850	c.4694C>T	c.(4693-4695)aCt>aTt	p.T1565I		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1565					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTACAACTTACTCATTACCAT	0.358000														87			23		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71103356	71103356	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71103356G>A	uc002ezr.3	-	13	1939	c.1788C>T	c.(1786-1788)ccC>ccT	p.P596P	HYDIN_uc010cfz.2_Silent_p.P341P|HYDIN_uc021tkq.1_Silent_p.P596P|HYDIN_uc010vmc.2_Silent_p.P613P|HYDIN_uc010vmd.2_Silent_p.P623P|HYDIN_uc002ezw.4_Silent_p.P613P	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	596								p.I595N(1)		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)				TGTAAGTCATGGGGATCAAAG	0.443000														38			11		0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20893163	20893163	+	Missense_Mutation	SNP	G	A	A	rs149798560		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:20893163G>A	uc010sii.2	+	12	1949	c.1594G>A	c.(1594-1596)Gga>Aga	p.G532R	SLCO1C1_uc010sij.2_Missense_Mutation_p.G483R|SLCO1C1_uc009zip.3_Missense_Mutation_p.G366R|SLCO1C1_uc001rei.3_Missense_Mutation_p.G532R|SLCO1C1_uc010sik.2_Missense_Mutation_p.G414R	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	532					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TTCTAAATCCGGAAATTCCTC	0.353000														98			27		0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102609857	102609857	+	Silent	SNP	C	T	T	rs145134236	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:102609857C>T	uc022bky.1	+	7	2394	c.1626C>T	c.(1624-1626)atC>atT	p.I542I	NR4A3_uc004baf.1_Silent_p.I531I	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	531					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ACCTTGATATCCAAGCCTTAG	0.483000			T	EWSR1	extraskeletal myxoid chondrosarcoma									79			7		0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27911626	27911626	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27911626C>T	uc002rlk.4	+	11	2545	c.2263C>T	c.(2263-2265)Cca>Tca	p.P755S		NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.	755						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AACACCTGGTCCAGGCAAAGT	0.353000														49			11		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1670063	1670063	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1670063C>T	uc002qxa.3	-	9	1278	c.1214G>A	c.(1213-1215)gGg>gAg	p.G405E	PXDN_uc002qxb.1_Missense_Mutation_p.G405E|PXDN_uc002qxc.1_Missense_Mutation_p.G222E	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	405	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCCGCTGTCCCCCTGTACGAC	0.587000														36			9		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47941136	47941136	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47941136C>T	uc010ele.3	-	5	1996	c.1980G>A	c.(1978-1980)gaG>gaA	p.E660E	SLC8A2_uc002pgx.3_Silent_p.E660E|SLC8A2_uc010xyq.2_Silent_p.E416E|SLC8A2_uc010xyr.2_Silent_p.E123E			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	660					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CGATGATGACCTCCAGCCGGC	0.577000														98			36		0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41077897	41077897	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:41077897G>A	uc003ayz.3	+	1	1502	c.1234G>A	c.(1234-1236)Gct>Act	p.A412T	MCHR1_uc003aza.3_Missense_Mutation_p.A301T|HV452684_uc003azb.1_Non-coding_Transcript	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	412					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CGCTCAGACGGCTGACGAGGA	0.607000														86			11		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54803315	54803315	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54803315G>A	uc002qfd.3	-	3	454	c.362C>T	c.(361-363)gCc>gTc	p.A121V	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Missense_Mutation_p.A121V	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	120	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.Y121Y(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTTGCTGTAGGCTCCTAGGAG	0.602000														158			24		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118624248	118624248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:118624248C>T	uc001ehk.2	-	13	1848	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K	SPAG17_uc021oss.1_5'Flank	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	594						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CGTTCTACTTCATTCCAGCTC	0.458000														102			31		0	0	1	0	0
NFAM1	150372	broad.mit.edu	37	22	42807591	42807591	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:42807591C>T	uc003bcn.4	-	1	311	c.273G>A	c.(271-273)agG>agA	p.R91R		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	Homo sapiens NFAT activating protein with ITAM motif 1 (NFAM1), mRNA.	91	Ig-like V-type.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						TCTTAGGGCTCCTCTGTCCCT	0.547000														86			34		0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73949573	73949573	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73949573G>A	uc002jqe.3	-	6	1264	c.903C>T	c.(901-903)atC>atT	p.I301I	ACOX1_uc010wsq.2_Silent_p.I263I|ACOX1_uc010wsr.2_Silent_p.I233I|ACOX1_uc002jqf.3_Silent_p.I301I	NM_004035	NP_001171968	Q15067	ACOX1_HUMAN	Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA.	301					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						CGCTGTATCGGATGGCAATGG	0.532000														65			22		0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116605158	116605158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:116605158C>T	uc001lcb.3	+	7	1381	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	FAM160B1_uc001lcc.3_Missense_Mutation_p.S349L	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	349										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GAAGATGCTTCAGCATTTCCA	0.358000														68			28		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370507	240370507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240370507G>A	uc010pye.2	+	5	2632	c.2407G>A	c.(2407-2409)Gac>Aac	p.D803N	FMN2_uc010pyd.2_Missense_Mutation_p.D799N	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	799	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGTCCAGCTCGACAGCCATCA	0.572000														74			22		0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8132554	8132554	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:8132554C>T	uc010rbm.1	-	5	939	c.885G>A	c.(883-885)atG>atA	p.M295I	RIC3_uc001mgb.2_Missense_Mutation_p.M105I|RIC3_uc010rbl.1_Missense_Mutation_p.M217I|RIC3_uc001mgd.2_Missense_Mutation_p.M267I|RIC3_uc001mgc.2_Missense_Mutation_p.M266I|RIC3_uc009yfm.2_Missense_Mutation_p.M186I|RIC3_uc001mge.2_Missense_Mutation_p.M85I|RIC3_uc009yfn.2_Missense_Mutation_p.M70I	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	267						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CCTCTTCTATCATTCCCATTC	0.448000														125			33		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240497465	240497465	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240497465G>A	uc010pye.2	+	13	4938	c.4713G>A	c.(4711-4713)caG>caA	p.Q1571Q	FMN2_uc010pyd.2_Silent_p.Q1567Q|FMN2_uc010pyf.1_Silent_p.Q213Q|FMN2_uc010pyg.2_Silent_p.Q163Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1567	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCTTTTTCAGGCCTCACAGA	0.363000														202			79		0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51629059	51629059	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51629059C>T	uc010yct.2	+	1	722	c.627C>T	c.(625-627)acC>acT	p.T209T	SIGLEC9_uc002pvu.3_Silent_p.T209T	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	209	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACCATGGCACCAGCCTCACCT	0.652000														120			11		0	0	1	0	0
SPA17	53340	broad.mit.edu	37	11	124551353	124551353	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124551353G>A	uc001qap.3	+	2	359	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_017425	NP_059121	Q15506	SP17_HUMAN	Homo sapiens sperm autoantigenic protein 17 (SPA17), mRNA.	75					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity	p.E75Q(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	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;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TCATGCATTCGAGGTATGGTC	0.378000														50			30		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101680176	101680176	+	Missense_Mutation	SNP	C	T	T	rs147399996		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:101680176C>T	uc001tia.1	+	4	560	c.404C>T	c.(403-405)tCg>tTg	p.S135L	UTP20_uc009ztz.1_Missense_Mutation_p.S135L	NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	135					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.S135L(2)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACTATCACCTCGATCCTGGAG	0.423000														199			84		0	0	1	0	0
NRIP2	83714	broad.mit.edu	37	12	2936434	2936434	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2936434C>T	uc001qlc.3	-	5	857	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	ITFG2_uc010sec.2_Intron|NRIP2_uc010sed.1_Missense_Mutation_p.R262Q	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	Homo sapiens nuclear receptor interacting protein 2 (NRIP2), mRNA.	262					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGCTTTCAGCCGCAGCACTCC	0.622000														24			12		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157665230	157665230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157665230C>T	uc001fqz.4	-	7	1592	c.1300G>A	c.(1300-1302)Gga>Aga	p.G434R	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.G160R|FCRL3_uc001frb.3_Missense_Mutation_p.G434R|FCRL3_uc001frc.1_Missense_Mutation_p.G434R	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	434	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AAGGAGGCTCCTCCTCCAGAG	0.562000														150			45		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36260883	36260883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:36260883C>T	uc010jwf.2	+	2	484	c.484C>T	c.(484-486)Ccc>Tcc	p.P162S	PNPLA1_uc010jwe.1_Missense_Mutation_p.P67S|PNPLA1_uc003olw.1_Missense_Mutation_p.P67S	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	162	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TGGCCTCATCCCCCCGACTTA	0.652000														71			29		0	0	1	0	0
ADI1	55256	broad.mit.edu	37	2	3504690	3504690	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:3504690G>A	uc002qxp.4	-	2	407	c.315C>T	c.(313-315)ttC>ttT	p.F105F	ADI1_uc010yiq.2_Non-coding_Transcript	NM_018269	NP_060739	Q9BV57	MTND_HUMAN	Homo sapiens acireductone dioxygenase 1 (ADI1), mRNA.	105					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CCCTCACATCGAAGTACCCAC	0.537000														60			14		0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3844784	3844784	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3844784G>A	uc002fwy.2	-	12	1883	c.1710C>T	c.(1708-1710)ccC>ccT	p.P570P	ATP2A3_uc002fwz.2_Silent_p.P570P|ATP2A3_uc002fxa.2_Silent_p.P570P|ATP2A3_uc002fxb.2_Silent_p.P570P|ATP2A3_uc002fxc.2_Silent_p.P570P|ATP2A3_uc002fxd.2_Silent_p.P570P|ATP2A3_uc002fwx.2_Silent_p.P570P	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	570					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.A569T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCTTCCTTGGGGGCGCGTCCC	0.647000														77			28		0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158114750	158114750	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:158114750G>A	uc002tzg.3	+	0	411	c.156G>A	c.(154-156)agG>agA	p.R52R	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	52					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TTGTGAGGAGGGAGCGGATAG	0.483000														147			47		0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73513451	73513451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:73513451C>T	uc003uaa.2	+	4	705	c.491C>T	c.(490-492)aCc>aTc	p.T164I	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Missense_Mutation_p.T130I|LIMK1_uc003uac.1_5'UTR	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	164					Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CACACCGTCACCCTGGTGTCC	0.647000														124			53		0	0	1	0	0
CXCR7	57007	broad.mit.edu	37	2	237489440	237489440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:237489440C>T	uc021vys.1	+	0	332	c.332C>T	c.(331-333)cCc>cTc	p.P111L	CXCR7_uc010fyq.3_Missense_Mutation_p.P111L|CXCR7_uc002vwd.3_Missense_Mutation_p.P111L	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	111					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		AACCAGTGGCCCATGGGCGAG	0.572000														107			29		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385254	41385254	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41385254G>A	uc002yyq.1	-	32	6198	c.5746C>T	c.(5746-5748)Cca>Tca	p.P1916S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1916				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGGTGCCTGGACCACCTCGG	0.522000														43			23		0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90450874	90450874	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:90450874C>T	uc001xxy.3	+	8	1198	c.899C>T	c.(898-900)cCc>cTc	p.P300L	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Missense_Mutation_p.P300L|TDP1_uc010atn.3_Missense_Mutation_p.P300L|TDP1_uc001xya.3_Missense_Mutation_p.P61L|TDP1_uc001xyb.3_Non-coding_Transcript|TDP1_uc001xyd.1_5'Flank	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	300					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGGTTGAGCCCCTTATACCCA	0.393000								Repair of DNA-protein crosslinks						211			50		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369238	22369238	+	Silent	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22369238T>G	uc010tzu.2	+	0	761	c.663T>G	c.(661-663)ctT>ctG	p.L221L	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATGCCTTCCTTCTGGCCTTGT	0.478000														125			52		0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34025289	34025289	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34025289G>A	uc010gfc.1	-	0	661	c.420C>T	c.(418-420)gtC>gtT	p.V140V	GDF5_uc002xck.1_Silent_p.V140V	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	140					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			AGGAGCTGGGGACAGATCCTG	0.647000														84			36		0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32742026	32742026	+	Silent	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32742026T>G	uc001bux.3	+	7	858	c.720T>G	c.(718-720)gtT>gtG	p.V240V	LCK_uc001buy.3_Silent_p.V240V|LCK_uc001buz.3_Silent_p.V240V|LCK_uc010ohc.1_Silent_p.V284V|LCK_uc001bva.3_Intron	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	240	Interaction with PTPRH.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	AGTGGGAGGTTCCCAGGGAGA	0.662000			T	TRB@	T-ALL									37			13		0	0	1	0	0
METTL22	79091	broad.mit.edu	37	16	8736037	8736037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:8736037C>T	uc002cyz.3	+	7	1156	c.880C>T	c.(880-882)Cac>Tac	p.H294Y	METTL22_uc021tcq.1_Non-coding_Transcript	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	Homo sapiens methyltransferase like 22 (METTL22), mRNA.	294							methyltransferase activity			large_intestine(5)|lung(4)	9						CTTGTACGATCACACCACCAT	0.468000														87			10		0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079286	57079286	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:57079286G>A	uc003xsq.4	-	2	1470	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	PLAG1_uc003xsr.4_Missense_Mutation_p.S340L|PLAG1_uc010lyi.3_Missense_Mutation_p.S340L|PLAG1_uc010lyj.3_Missense_Mutation_p.S258L|PLAG1_uc022aur.1_Missense_Mutation_p.S258L	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	340	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			AATTGCATATGAGGTAGAACT	0.418000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									194			21		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10357980	10357980	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10357980C>T	uc002gmn.3	-	21	2694	c.2583G>A	c.(2581-2583)gaG>gaA	p.E861E	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	861					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						CTTTGGTTTTCTCAAATTCTT	0.438000														100			40		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234601708	234601708	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234601708C>T	uc002vuv.4	+	0	197	c.58C>T	c.(58-60)Ctt>Ttt	p.L20F	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Missense_Mutation_p.L20F	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	19					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CTTCTTAGCACTTTGGGGCAT	0.483000														87			24		0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68343463	68343463	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:68343463C>T	uc001onv.3	+	13	1764	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	PPP6R3_uc001onw.3_Silent_p.F499F|PPP6R3_uc001ony.4_Silent_p.F499F|PPP6R3_uc001onx.3_Silent_p.F499F|PPP6R3_uc009ysh.3_Silent_p.F448F|PPP6R3_uc001onu.3_Silent_p.F448F|PPP6R3_uc010rqc.2_Silent_p.F267F|PPP6R3_uc010rqd.2_Silent_p.F211F|PPP6R3_uc001onz.3_5'UTR	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	499					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGGAGACGTTCTGCACAAGCT	0.428000														104			46		0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65319621	65319621	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65319621G>A	uc001oej.3	-	7	1622	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	LTBP3_uc010roi.2_Silent_p.F334F|LTBP3_uc001oei.3_Silent_p.F451F|LTBP3_uc010roj.2_Silent_p.F152F|LTBP3_uc010rok.1_Silent_p.F362F|U7_uc021qll.1_5'Flank	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	451	TB 2.					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						AGATCTCCTTGAACGCAGCTG	0.557000											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		94			34		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772551	4772551	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:4772551C>T	uc001alm.1	+	1	1002	c.621C>T	c.(619-621)tcC>tcT	p.S207S	AJAP1_uc001aln.3_Silent_p.S207S	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	207	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCACGGTCTCCATCCTACAAA	0.637000														21			8		0	0	1	0	0
INS-IGF2	723961	broad.mit.edu	37	11	2170415	2170415	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:2170415G>A	uc001lvm.3	-	2	407	c.348C>T	c.(346-348)tcC>tcT	p.S116S	IGF2_uc001lvh.3_5'UTR|IGF2_uc001lvi.3_Non-coding_Transcript	NM_001042376	NP_001035835	Q1WM24	Q1WM24_HUMAN	Homo sapiens INS-IGF2 readthrough (INS-IGF2), transcript variant 2, mRNA.	116					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		AGAGGACCGGGGAGTCACTGG	0.602000														94			45		0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154271117	154271117	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:154271117G>A	uc003lvx.3	-	25	4029	c.3946C>T	c.(3946-3948)Cag>Tag	p.Q1316*	GEMIN5_uc011ddk.1_Nonsense_Mutation_p.Q1315*	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	1316					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTAACTGCTGGCTTGGCTCA	0.517000														85			56		0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5853187	5853187	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:5853187G>A	uc003gis.3	-	4	919	c.830C>T	c.(829-831)tCc>tTc	p.S277F	CRMP1_uc003giq.3_Missense_Mutation_p.S163F|CRMP1_uc003gir.3_Missense_Mutation_p.S158F	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	163					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GACTTGGAAGGAATTGACGCC	0.438000														156			61		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3322099	3322099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3322099C>T	uc001akf.3	+	7	1155	c.1073C>T	c.(1072-1074)tCg>tTg	p.S358L	PRDM16_uc001ake.3_Missense_Mutation_p.S358L|PRDM16_uc009vlh.3_Missense_Mutation_p.S59L|PRDM16_uc001akc.3_Missense_Mutation_p.S358L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	358					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CACATCCGCTCGCAGCACGTG	0.682000			T	EVI1	"""MDS, AML"""									57			19		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187694567	187694567	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:187694567G>A	uc002upu.1	-	7	1022	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	328					apoptosis		zinc ion binding	p.L328I(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATCAGTTGGAGAGGCAGTGAT	0.393000														133			34		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43205702	43205702	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:43205702G>A	uc002lbe.3	+	2	1021	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	SLC14A2_uc002lbb.3_Missense_Mutation_p.E69K|SLC14A2_uc010dnj.3_Missense_Mutation_p.E69K	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	69						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAAGCTCAATGAAAGGAGTAA	0.498000														46			14		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11000810	11000810	+	Silent	SNP	C	T	T	rs141202424	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:11000810C>T	uc002daj.4	+	10	1597	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	CIITA_uc002dai.4_Silent_p.I487I|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Silent_p.I487I|CIITA_uc002dah.2_Silent_p.I439I|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	487	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCAGCCACATCTTGAAGAGAC	0.622000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									110			51		0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17892613	17892613	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17892613C>T	uc002nhg.3	+	22	2200	c.1921C>T	c.(1921-1923)Cgt>Tgt	p.R641C	FCHO1_uc010ebb.2_Missense_Mutation_p.R641C|FCHO1_uc002nhh.2_Missense_Mutation_p.R641C|FCHO1_uc010xpw.1_Missense_Mutation_p.R591C	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	641										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CGCCTACTTCCGTGGCCACAG	0.637000														64			36		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074292	106074292	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106074292G>A	uc001kyf.3	-	2	1971	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	ITPRIP_uc001kye.3_Silent_p.F506F|ITPRIP_uc001kyg.3_Silent_p.F506F|ITPRIP_uc021pxv.1_Silent_p.F506F	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	506						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCTGCAGGACGAAGGGCCGGA	0.587000														89			24		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28865888	28865888	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:28865888G>A	uc002rmb.2	+	57	4382	c.4338G>A	c.(4336-4338)agG>agA	p.R1446R	PLB1_uc010ezj.2_Silent_p.R1435R|PLB1_uc002rme.2_Silent_p.R411R	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1446					lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTGGCCGGAGGGAAGATCCTC	0.652000														6			6		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100197701	100197701	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100197701C>T	uc011kjz.1	+	8	1436	c.1368C>T	c.(1366-1368)caC>caT	p.H456H	FBXO24_uc003uvm.1_Silent_p.H418H|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Silent_p.H406H|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	418						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCCTCAACCACTCCCTGGTGC	0.692000														13			3		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784500	151784500	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:151784500C>T	uc003luv.2	-	0	341	c.175G>A	c.(175-177)Ggg>Agg	p.G59R		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	59					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CCAATGACCCCCACCACAAAA	0.577000														66			22		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12313762	12313762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:12313762C>T	uc001mkg.1	+	1	338	c.47C>T	c.(46-48)tCg>tTg	p.S16L		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	16	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.S16S(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cttccttcatcgtcttcccat	0.493000														44			15		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113955458	113955458	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113955458G>A	uc002tjc.3	+	13	2775	c.2592G>A	c.(2590-2592)acG>acA	p.T864T	PSD4_uc002tjd.3_Silent_p.T484T|PSD4_uc002tje.3_Silent_p.T834T|PSD4_uc002tjf.3_Silent_p.T485T|PSD4_uc002tjg.3_Silent_p.T30T|PSD4_uc010yxs.2_Silent_p.T94T|PSD4_uc002tjh.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	864	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCTGCGCACGGCTGACTGGC	0.657000														23			11		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143098600	143098600	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143098600G>A	uc003wcz.3	-	2	336	c.249C>T	c.(247-249)tcC>tcT	p.S83S		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	83						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGATCCAATTGGAGCGAAGCC	0.602000														219			61		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136536720	136536721	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:136536720_136536721CC>TT	uc004cep.4	-	17	2396_2397	c.2262_2263GG>AA	c.(2260-2265)gcgggt>gcAAgt	p.G755S	SARDH_uc004ceo.3_Missense_Mutation_p.G755S|SARDH_uc011mdo.2_Missense_Mutation_p.G587S|SARDH_uc011mdn.2_Missense_Mutation_p.G755S|SARDH_uc004cen.3_Missense_Mutation_p.G183S	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	755					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	p.A754T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGCTTGGCACCCGCGGCCATCA	0.663000														14			4		0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41099087	41099087	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41099087G>A	uc002oog.1	+	1	16	c.16_splice	c.e1+1	p.A6_splice		NM_003573	NP_003564	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 2, mRNA.	0					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGACGTAAAAGGTGAGTGCCT	0.428000														49			18		0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93016251	93016251	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:93016251G>A	uc002brc.1	+	1	915	c.443G>A	c.(442-444)gGa>gAa	p.G148E	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	148										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TTCAATTGCGGAAGCATAGAG	0.468000														78			73		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26482151	26482151	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:26482151G>A	uc001isn.2	+	31	4816	c.4456G>A	c.(4456-4458)Gag>Aag	p.E1486K	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1486					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.E1485D(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAAAGGAGAGGAGCCAAAAAT	0.353000														53			19		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53418996	53418997	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:53418996_53418997CC>TT	uc001vhi.3	-	2	3115_3116	c.2911_2912GG>AA	c.(2911-2913)ggg>AAg	p.G971K	PCDH8_uc001vhj.3_Missense_Mutation_p.G874K	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	971					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.G971W(4)|p.G971V(2)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TGCGTTGGGCCCGCTGCAGGAT	0.579000														39			10		0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93499834	93499834	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:93499834C>T	uc002bsp.3	+	15	2530	c.1955C>T	c.(1954-1956)tCc>tTc	p.S652F	CHD2_uc002bso.1_Missense_Mutation_p.S652F	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	652	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTTCAGAATTCCCTCAAAGAG	0.433000														138			47		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957581	49957581	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:49957581C>T	uc004dow.1	-	4	1907	c.1783G>A	c.(1783-1785)Gca>Aca	p.A595T	AKAP4_uc004dou.1_Missense_Mutation_p.A586T|AKAP4_uc004dov.1_Missense_Mutation_p.A212T|AKAP4_uc010njp.1_Missense_Mutation_p.A417T	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	595					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ACTGAAAGTGCTTTGGCACTT	0.468000														33			39		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79434686	79434686	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:79434686G>A	uc001xun.3	+	10	2511	c.2020G>A	c.(2020-2022)Gaa>Aaa	p.E674K	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.E799K	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCGTGGCTGTGAAGGTACAAC	0.517000														47			25		0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45410157	45410157	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:45410157G>A	uc001rok.1	-	3	1104	c.932C>T	c.(931-933)cCc>cTc	p.P311L		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	311						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P310P(1)|p.P311P(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		TGCTTCTGGGGGTGGTGCCCC	0.483000														57			27		0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101608265	101608265	+	Missense_Mutation	SNP	G	A	A	rs137917376		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:101608265G>A	uc004ayz.3	+	8	1465	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.	489	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TTAGTTTTTCGAGTACACGTC	0.478000														36			5		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32486707	32486707	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:32486707C>T	uc004dda.1	-	22	3314	c.3070G>A	c.(3070-3072)Gaa>Aaa	p.E1024K	DMD_uc004dcz.2_Missense_Mutation_p.E901K|DMD_uc004dcy.1_Missense_Mutation_p.E1020K|DMD_uc004ddb.1_Missense_Mutation_p.E1016K|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1024					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)				CCCTCAATTTCTTCAAATTCT	0.428000														11			18		0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184002751	184002751	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:184002751G>A	uc003fni.4	+	9	1398	c.1360_splice	c.e9-1	p.A454_splice	ECE2_uc011brh.1_Splice_Site_p.A307_splice|ECE2_uc003fnl.4_Splice_Site_p.A382_splice|ECE2_uc003fnm.4_Splice_Site_p.A336_splice|ECE2_uc003fnk.4_Splice_Site_p.A307_splice|ECE2_uc011bri.1_Splice_Site_p.A369_splice|ECE2_uc010hxv.3_Splice_Site_p.A98_splice	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	454	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTTCTTTCAGGCTCTGGCGCC	0.547000											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			16		0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52441424	52441424	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52441424C>T	uc003ddx.3	-	5	543	c.428G>A	c.(427-429)aGc>aAc	p.S143N	BAP1_uc010hmh.3_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	143					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCTGGCATGGCTATTATGGGC	0.537000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""								91			31		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56204425	56204425	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:56204425G>A	uc002lhj.4	-	4	3208	c.2994C>T	c.(2992-2994)tgC>tgT	p.C998C	ALPK2_uc002lhk.1_Silent_p.C329C	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	998							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCGCTTGAAAGCACTCATTAT	0.488000														68			46		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427724	119427724	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:119427724G>A	uc001ehl.1	-	7	1437	c.1122C>T	c.(1120-1122)gtC>gtT	p.V374V	TBX15_uc009whj.1_Silent_p.V198V	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	480						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCCTGCATGACATACTGAA	0.567000														28			12		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870387	4870387	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4870387G>A	uc010qyo.2	-	0	52	c.52C>T	c.(52-54)Ccc>Tcc	p.P18S		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGAAGGTGGGGGCCATTGAA	0.507000														77			36		0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108377998	108377998	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:108377998G>A	uc001kyl.3	-	20	3011	c.2829C>T	c.(2827-2829)ttC>ttT	p.F943F	SORCS1_uc021pxw.1_Silent_p.F943F|SORCS1_uc009xxs.3_Silent_p.F943F|SORCS1_uc001kym.3_Silent_p.F943F|SORCS1_uc001kyn.2_Silent_p.F943F|SORCS1_uc001kyo.3_Silent_p.F943F	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	943						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAGTAAATCTGAAGGATATGC	0.458000														64			18		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811000	123811000	+	Missense_Mutation	SNP	G	A	A	rs142766960		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123811000G>A	uc001pzk.1	+	0	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTCATGCTCCGAAGCCACTCA	0.507000														253			68		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062075	9062075	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9062075C>T	uc002mkp.3	-	2	25575	c.25371G>A	c.(25369-25371)agG>agA	p.R8457R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8459	Ser-rich.|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						TGGATGTTCCCCTAGAGGATA	0.512000														156			39		0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116198974	116198974	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:116198974C>T	uc021pyx.1	-	20	2202	c.2103G>A	c.(2101-2103)atG>atA	p.M701I	ABLIM1_uc021pyw.1_Missense_Mutation_p.G699R|ABLIM1_uc021pyy.1_Missense_Mutation_p.M666I|ABLIM1_uc021pyz.1_Missense_Mutation_p.G633R|ABLIM1_uc021pza.1_Missense_Mutation_p.M641I|ABLIM1_uc021pyv.1_Missense_Mutation_p.G369R|ABLIM1_uc021pyu.1_Missense_Mutation_p.M378I	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	701					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTCCTCGGTCCATTCTCATTG	0.473000														55			18		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150932882	150932882	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:150932882G>A	uc003lue.4	-	4	4025	c.4012C>T	c.(4012-4014)Cct>Tct	p.P1338S		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1338	Cadherin 11.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.P1338S(2)		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)			CGGGGCCAAGGGATCCACTCA	0.567000														50			14		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88420241	88420241	+	Silent	SNP	C	T	T	rs67229046		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:88420241C>T	uc002bme.2	-	19	2751	c.2445G>A	c.(2443-2445)ttG>ttA	p.L815L	NTRK3_uc002bmh.2_Silent_p.L793L|NTRK3_uc002bmf.2_Silent_p.L801L|NTRK3_uc021sua.1_Silent_p.L793L	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	815	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTTGATGTTCAACCGCTGCT	0.542000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				85			19		0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747534	68747534	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:68747534C>T	uc010rqf.2	-	0	922	c.922G>A	c.(922-924)Ggt>Agt	p.G308S		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	308						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTCTCCCCACCTTCCAGCTCG	0.672000														66			21		0	0	1	0	0
MIR518A1	574488	broad.mit.edu	37	19	54234287	54234287	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54234287C>T	uc021van.1	+	0		c.28C>T								Homo sapiens microRNA 518a-1 (MIR518A1), microRNA.																		AAAGGGAAGCCCTTTCTGTTG	0.433000														141			48		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111870807	111870807	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:111870807C>T	uc003dyu.3	-	27	3643	c.3421G>A	c.(3421-3423)Gga>Aga	p.G1141R	SLC9C1_uc011bhu.2_Missense_Mutation_p.G404R|SLC9C1_uc010hqc.3_Missense_Mutation_p.G1093R	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	1141					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CTGTGTGCTCCATCCTGGGAT	0.522000														40			26		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136562339	136562339	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136562339G>A	uc002tuu.1	-	9	4473	c.4462C>T	c.(4462-4464)Cag>Tag	p.Q1488*		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1488	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.Q1488Q(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CACCATACCTGGGGCTGGATG	0.547000														33			15		0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169623443	169623443	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:169623443C>T	uc003qwt.3	-	18	3149	c.2901G>A	c.(2899-2901)ttG>ttA	p.L967L		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	967	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CTTTGGGATCCAAGGGGACCA	0.498000														41			20		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561350	9561350	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9561350T>A	uc002wnl.2	-	4	977	c.432A>T	c.(430-432)gaA>gaT	p.E144D	PAK7_uc002wnk.2_Missense_Mutation_p.E144D|PAK7_uc002wnj.2_Missense_Mutation_p.E144D|PAK7_uc010gby.1_Missense_Mutation_p.E144D	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	144	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.E144K(1)|p.T143T(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCCTGTACTTTTCGGTCGTGT	0.512000														153			80		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64526872	64526872	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:64526872C>T	uc003dmg.3	-	35	5452	c.5420G>A	c.(5419-5421)gGg>gAg	p.G1807E	ADAMTS9_uc011bfo.2_Missense_Mutation_p.G1779E|ADAMTS9_uc011bfp.1_Missense_Mutation_p.G718E	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1807	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GCGCCGGCTCCCGTTATAGGG	0.478000														103			46		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152518823	152518823	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152518823C>T	uc021vrb.1	-	43	5825	c.5796G>A	c.(5794-5796)atG>atA	p.M1932I	NEB_uc002txu.3_Missense_Mutation_p.M1932I|NEB_uc021vrc.1_Missense_Mutation_p.M1932I|NEB_uc010fnx.3_Missense_Mutation_p.M1932I|NEB_uc021vrd.1_Missense_Mutation_p.M1932I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1932					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAATGCCCTTCATGAAGTCAG	0.433000														120			16		0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30899683	30899683	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:30899683G>C	uc003aid.2	-	1	211	c.111C>G	c.(109-111)ttC>ttG	p.F37L	SEC14L4_uc011akz.1_Missense_Mutation_p.F37L|SEC14L4_uc003aie.2_Missense_Mutation_p.S6C|SEC14L4_uc003aif.2_5'UTR	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	37						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AGCGCAGGAGGAAGTAGTCAT	0.612000														42			14		0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128454708	128454708	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128454708C>T	uc003vnv.2	+	14	3196	c.2780C>T	c.(2779-2781)aCc>aTc	p.T927I	CCDC136_uc003vnu.2_Intron|CCDC136_uc003vnx.2_Missense_Mutation_p.T743I|CCDC136_uc010llq.2_Missense_Mutation_p.T296I|CCDC136_uc003vny.2_Intron	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	927						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAACTGCAGACCAAGCTGCGG	0.587000														32			12		0	0	1	0	0
SOCS2	8835	broad.mit.edu	37	12	93968856	93968856	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:93968856C>T	uc001tcw.1	+	2	1088	c.498C>T	c.(496-498)ctC>ctT	p.L166L	SOCS2_uc021rbx.1_Silent_p.L166L|SOCS2_uc001tcy.1_Silent_p.L166L|SOCS2_uc001tcz.3_3'UTR	NM_003877	NP_003868	O14508	SOCS2_HUMAN	Homo sapiens suppressor of cytokine signaling 2 (SOCS2), mRNA.	166	SOCS box.				JAK-STAT cascade|anti-apoptosis|growth hormone receptor signaling pathway|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|growth hormone receptor binding|insulin-like growth factor receptor binding|prolactin receptor binding			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						TGCAGCATCTCTGTAGGCTCA	0.478000														47			28		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10080327	10080327	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10080327C>T	uc002mmq.1	-	55	4108	c.4022G>A	c.(4021-4023)aGg>aAg	p.R1341K		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1341	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)			TGGACCCGTCCTCCCTGGGGG	0.682000														17			6		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984115	85984115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:85984115G>A	uc010qmc.2	-	1	874	c.866C>T	c.(865-867)cCc>cTc	p.P289L	LRIT2_uc001kcy.3_Missense_Mutation_p.P289L	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	289	Ig-like.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CATACTCAGGGGATAAGTCCA	0.527000														40			19		0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219254613	219254613	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219254613C>T	uc002vhv.3	+	8	1156	c.816C>T	c.(814-816)gcC>gcT	p.A272A	SLC11A1_uc010fvp.1_Silent_p.A272A|SLC11A1_uc010fvq.1_Silent_p.A205A|SLC11A1_uc010zkc.1_Silent_p.A205A|SLC11A1_uc002vhu.1_Silent_p.A67A|SLC11A1_uc002vhw.3_Silent_p.A154A|SLC11A1_uc010fvr.3_Silent_p.A67A	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	272					L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGACCGGGCCCGCCGAGCAG	0.537000														26			15		0	0	1	0	0
KRT8	3856	broad.mit.edu	37	12	53298740	53298740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53298740G>A	uc009zmk.1	-	1	130	c.110C>T	c.(109-111)tCc>tTc	p.S37F	KRT8_uc001sbd.2_Missense_Mutation_p.S9F|KRT8_uc009zml.1_Missense_Mutation_p.S9F|KRT8_uc009zmm.1_Missense_Mutation_p.S9F	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	9	Head.|Ser-rich.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCTTGTAGGACTTCTGGGT	0.647000														17			10		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190423945	190423945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:190423945G>A	uc001gse.1	-	1	308	c.76C>T	c.(76-78)Cat>Tat	p.H26Y	FAM5C_uc010pot.1_5'UTR	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	26						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)					ACCCAGCAATGAAGACTCAGT	0.522000														45			16		0	0	1	0	0
CBLN4	140689	broad.mit.edu	37	20	54573724	54573724	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:54573724G>A	uc002xxa.3	-	2	1280	c.495C>T	c.(493-495)gtC>gtT	p.V165V		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	165	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			GGTAGAGCAGGACACCATTCG	0.423000														78			44		0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52579321	52579321	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52579321G>A	uc001rzw.3	-	0	213	c.162C>T	c.(160-162)ttC>ttT	p.F54F	KRT80_uc001rzy.3_Silent_p.F117F|KRT80_uc001rzx.3_Silent_p.F117F	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	205	Head.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GGCCCTGCAGGAAGCTCCAGC	0.637000														43			7		0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180846610	180846611	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:180846610_180846611GG>AA	uc010frh.1	-	4	620_621	c.320_321CC>TT	c.(319-321)tcc>tTT	p.S107F	CWC22_uc002unp.2_Missense_Mutation_p.S107F	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	Homo sapiens CWC22 spliceosome-associated protein homolog (S. cerevisiae) (CWC22), mRNA.	107						catalytic step 2 spliceosome	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CCTGAGCAGAGGAACTCTGAGT	0.470000														18			8		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140712539	140712539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140712539C>T	uc003lji.2	+	0	2288	c.2288C>T	c.(2287-2289)tCg>tTg	p.S763L	PCDHGC5_uc011dan.2_Missense_Mutation_p.S763L	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	768					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)			ACTGCGGACTCGCGGAAGAGC	0.592000														188			86		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155483	22155483	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22155483C>T	uc021urr.1	-	3	2502	c.2353G>A	c.(2353-2355)Gct>Act	p.A785T	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)				CGGTTAAAAGCTTTGCCACAT	0.363000														57			22		0	0	1	0	0
AK8	158067	broad.mit.edu	37	9	135698623	135698623	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135698623G>A	uc004cbu.1	-	8	1414	c.858C>T	c.(856-858)gcC>gcT	p.A286A	AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_Silent_p.A82A	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	Homo sapiens adenylate kinase 8 (AK8), mRNA.	286	Adenylate kinase.					cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						GGGCCAGGAGGGCGGCCTGCA	0.627000														104			61		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52509050	52509050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:52509050G>A	uc001vfw.2	-	20	4397	c.4240C>T	c.(4240-4242)Ccc>Tcc	p.P1414S	ATP7B_uc001vfy.2_Missense_Mutation_p.P1303S|ATP7B_uc010adv.2_Missense_Mutation_p.P984S|ATP7B_uc001vfx.2_Missense_Mutation_p.P1207S|ATP7B_uc010tgt.1_Missense_Mutation_p.P1349S|ATP7B_uc010tgu.1_Missense_Mutation_p.P1366S|ATP7B_uc010tgv.1_Missense_Mutation_p.P1336S|ATP7B_uc001vfv.2_Missense_Mutation_p.P686S|ATP7B_uc010tgs.1_Missense_Mutation_p.P625S	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	1414					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)		GTGGCCCTGGGGGAGTCCCGC	0.632000									Wilson disease					52			22		0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36933542	36933542	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:36933542G>A	uc001caw.2	-	13	2329	c.1745C>T	c.(1744-1746)tCc>tTc	p.S582F	CSF3R_uc001cav.2_Missense_Mutation_p.S582F|CSF3R_uc001cax.2_Missense_Mutation_p.S582F	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	582	Fibronectin type-III 5.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AAAGCCACGGGAGGAGGCATT	0.632000														55			10		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219894230	219894230	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219894230G>A	uc002vjl.1	-	10	1629	c.1545C>T	c.(1543-1545)gcC>gcT	p.A515A	CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Silent_p.A504A|CCDC108_uc010zkq.1_Silent_p.A450A	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	515						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTCCCAAAGGCAGGCCTGA	0.602000											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			9		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286549	152286549	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152286549C>T	uc001ezu.1	-	2	849	c.813G>A	c.(811-813)gtG>gtA	p.V271V	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	271	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCTGTTCACTTGAGATG	0.438000									Ichthyosis					309			27		0	0	1	0	0
C10orf128	170371	broad.mit.edu	37	10	50396355	50396355	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50396355C>T	uc010qgo.2	-	0	53	c.27G>A	c.(25-27)agG>agA	p.R9R	C10orf128_uc001jhn.4_Silent_p.R9R|C10orf128_uc001jho.4_Silent_p.R9R			Q5T292	CJ128_HUMAN	Homo sapiens chromosome 10 open reading frame 128 (C10orf128), mRNA.	9						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						GGAAGAGGATCCTCAGCATGC	0.647000														84			26		0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29787322	29787322	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29787322G>A	uc002kxj.4	+	7	702	c.655G>A	c.(655-657)Gga>Aga	p.G219R		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	219	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATTCCAAAATGGAACAGAGCC	0.393000														23			9		0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88702482	88702482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:88702482C>T	uc001kea.3	-	5	2186	c.2059G>A	c.(2059-2061)Gag>Aag	p.E687K	MMRN2_uc010qmn.2_Missense_Mutation_p.E330K|MMRN2_uc009xtb.2_Missense_Mutation_p.E644K	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	687						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GCGGCCTCCTCGCGGCCCGCG	0.771000														2			4		0	0	1	0	0
SLC46A3	283537	broad.mit.edu	37	13	29284912	29284912	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29284912G>A	uc001usj.3	-	3	1671	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	SLC46A3_uc001usg.3_Missense_Mutation_p.R302C|SLC46A3_uc001usi.3_Missense_Mutation_p.R377C|SLC46A3_uc001ush.3_Missense_Mutation_p.R377C|SLC46A3_uc001usk.3_3'UTR	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	377					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		TCAGTCGAACGAACCACTTTT	0.388000														95			31		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066278	73066278	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73066278G>A	uc004ebm.1	-	0		c.6311C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GATCCCAGACGATTATAATCA	0.488000														19			27		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30954258	30954258	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:30954258G>A	uc021vfn.1	-	19	1967	c.1935C>T	c.(1933-1935)ttC>ttT	p.F645F	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Silent_p.F641F	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	645	EF-hand 2.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGAGGTTGCGGAAGGTCTCTA	0.567000														10			8		0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33623339	33623339	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:33623339C>T	uc002nui.3	+	0	342	c.264C>T	c.(262-264)gaC>gaT	p.D88D		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	88										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GCGACCAGGACCCTCTCTCCA	0.652000														74			21		0	0	1	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287358	29287358	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29287358G>A	uc001usj.3	-	2	1061	c.519C>T	c.(517-519)gaC>gaT	p.D173D	SLC46A3_uc001usg.3_Silent_p.D98D|SLC46A3_uc001usi.3_Silent_p.D173D|SLC46A3_uc001ush.3_Silent_p.D173D|SLC46A3_uc001usk.3_Silent_p.D98D	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	173					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CAAGTAGAAAGTCAATGATAG	0.368000														47			27		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79092621	79092621	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:79092621G>A	uc002bej.4	-	1	580	c.369C>T	c.(367-369)gcC>gcT	p.A123A	ADAMTS7_uc010und.1_Silent_p.A123A|ADAMTS7_uc002bek.1_Silent_p.A123A	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	123					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCGGGGTGTGGGCCCGGATGT	0.731000														29			8		0	0	1	0	0
HLA-C	3107	broad.mit.edu	37	6	31322989	31322989	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31322989G>A	uc003nth.2	-	4	961	c.907C>T	c.(907-909)Cag>Tag	p.Q303*	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Nonsense_Mutation_p.Q182*|HLA-C_uc003nti.1_Intron	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	303	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						ACGGTGGACTGGGAAGACGGC	0.602000														55			24		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717183	222717183	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:222717183G>A	uc001hnh.1	-	1	728	c.670C>T	c.(670-672)Cat>Tat	p.H224Y		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	224					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCCCAGCATGGACCATGGAG	0.642000														39			26		0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66816097	66816097	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66816097G>A	uc009yrl.3	+	7	1365	c.1135G>A	c.(1135-1137)Ggc>Agc	p.G379S	SYT12_uc001oju.3_Missense_Mutation_p.G379S	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	379	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CAGCAGCGACGGCCGTGGGGA	0.627000														53			30		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515712	47515712	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47515712G>A	uc001cqt.3	+	11	1646	c.1396G>A	c.(1396-1398)Gta>Ata	p.V466I	CYP4X1_uc001cqr.3_Missense_Mutation_p.V465I|CYP4X1_uc001cqs.3_Missense_Mutation_p.V401I	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	466						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TGAGTTAAAGGTAACCATTGC	0.438000														120			55		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177041212	177041212	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:177041212G>A	uc003iuj.3	+	4	877	c.574G>A	c.(574-576)Ggt>Agt	p.G192S	WDR17_uc003ium.4_Missense_Mutation_p.G168S|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	192										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGTTGTGTTTGGTCATATTGA	0.323000														153			29		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53045554	53045554	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53045554C>T	uc001sat.3	-	0	406	c.373G>A	c.(373-375)Ggt>Agt	p.G125S		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	125	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		cccccaaaacctccaaagcgg	0.617000														29			9		0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112929053	112929053	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:112929053C>A	uc003kqn.3	+	28	4468	c.4266C>A	c.(4264-4266)ccC>ccA	p.P1422P		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	1422							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AACGTCTTCCCTTGGGAGAAA	0.368000														64			24		4.7796e-09	4.79497e-09	1	1	0
UPK3B	80761	broad.mit.edu	37	7	76140314	76140314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:76140314C>T	uc003ufq.3	+	0	570	c.345C>T	c.(343-345)ttC>ttT	p.F115F	UPK3B_uc003ufo.3_Silent_p.F60F|UPK3B_uc010ldk.1_Silent_p.F60F	NM_030570	NP_085047	Q9BT76	UPK3B_HUMAN	Homo sapiens uroplakin 3B (UPK3B), transcript variant 1, mRNA.	115					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GCTGTGTCTTCGATGGGCTTG	0.632000														4			5		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870251	36870251	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36870251G>A	uc002xhy.1	-	2	554	c.282C>T	c.(280-282)ccC>ccT	p.P94P	KIAA1755_uc002xhz.1_Silent_p.P94P	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	94										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GAGGGTTGAGGGGTGCCAAGT	0.572000														74			25		0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201316	24201316	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24201316G>A	uc021oij.1	-	0	792	c.792C>T	c.(790-792)ctC>ctT	p.L264L	CNR2_uc001bif.3_Silent_p.L264L	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	264					G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	TGTGGGCCATGAGGGCCAGCA	0.577000														68			8		0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068408	5068408	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5068408C>T	uc010qyv.2	+	0	653	c.653C>T	c.(652-654)tCg>tTg	p.S218L		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		ATTGGCATCTCGTATGTTTAC	0.453000														162			66		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112029769	112029769	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:112029769G>A	uc004bdz.1	-	3	812	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C	EPB41L4B_uc004bea.3_Missense_Mutation_p.R173C	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	173	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACTCCTCACGAAGGTTGTTT	0.443000														64			37		0	0	1	0	0
AES	166	broad.mit.edu	37	19	3055716	3055716	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3055716G>A	uc002lxb.1	-	4	483	c.444C>T	c.(442-444)atC>atT	p.I148I	AES_uc002lwx.1_3'UTR|AES_uc002lwy.1_Silent_p.I81I|AES_uc002lwz.1_Silent_p.I81I	NM_198969	NP_945320	Q08117	AES_HUMAN	Homo sapiens amino-terminal enhancer of split (AES), transcript variant 1, mRNA.	81	Gly/Pro-rich (GP domain).				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			lung(8)	8		Hepatocellular(1079;0.137)		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)		GCCTTTTGACGATCTCAGCCT	0.662000														88			31		0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47942791	47942791	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47942791C>T	uc003gxu.3	-	8	1001	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.R218Q	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	218					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	p.R218Q(1)|p.R287K(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TGTCCTTGTTCGTACAAACAT	0.294000														57			22		0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57713104	57713104	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:57713104C>T	uc002emh.3	+	4	611	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L	GPR97_uc010vhv.2_Silent_p.L50L|GPR97_uc010cdd.3_Non-coding_Transcript|GPR97_uc010cde.3_5'Flank	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	170					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCGGCTCGGCCTGGGAGATGG	0.627000														63			14		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546350	11546350	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:11546350G>A	uc010shk.1	-	2	697	c.662C>T	c.(661-663)cCa>cTa	p.P221L		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)			TGGTCCTTGTGGCTTTCCTGG	0.612000														314			39		0	0	1	0	0
FTSJD1	55783	broad.mit.edu	37	16	71319397	71319397	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71319397G>T	uc021tkr.1	-	0	427	c.427C>A	c.(427-429)Ctt>Att	p.L143I	FTSJD1_uc010cga.3_Missense_Mutation_p.L143I|FTSJD1_uc002ezy.4_Missense_Mutation_p.L143I|FTSJD1_uc002ezz.4_Missense_Mutation_p.L143I	NM_018348	NP_060818	Q8IYT2	FTSJ1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA.	143						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTTCACAAAGGTGTAGAGAA	0.413000														113			21		7.41877e-09	7.44158e-09	1	1	0
LGR4	55366	broad.mit.edu	37	11	27389935	27389935	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:27389935G>A	uc001mrj.4	-	17	2820	c.2335C>T	c.(2335-2337)Ccc>Tcc	p.P779S	LGR4_uc001mrk.4_Missense_Mutation_p.P755S	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	779						integral to membrane|plasma membrane	protein-hormone receptor activity	p.P779P(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ATTATTTCGGGGCTGATAGAG	0.403000														105			30		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662311	99662311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:99662311C>T	uc010nmz.3	-	0	2961	c.1285G>A	c.(1285-1287)Ggc>Agc	p.G429S	PCDH19_uc004efw.4_Missense_Mutation_p.G429S|PCDH19_uc004efx.4_Missense_Mutation_p.G429S	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	429	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ATGGGCACGCCGCCGTCGCGT	0.552000														69			12		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052376	44052376	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:44052376G>A	uc001jaw.4	-	1	1805	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	ZNF239_uc001jax.4_Silent_p.F384F|ZNF239_uc009xmj.3_Silent_p.F384F|ZNF239_uc009xmk.3_Silent_p.F384F|ZNF239_uc021pph.1_Silent_p.F384F	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	p.G383G(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGCTCTGGCTGAAACCCTTCC	0.527000														68			24		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113275932	113275932	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:113275932G>A	uc003ynu.3	-	60	9957	c.9798C>T	c.(9796-9798)tcC>tcT	p.S3266S	CSMD3_uc003yns.3_Silent_p.S2468S|CSMD3_uc003ynt.3_Silent_p.S3226S|CSMD3_uc011lhx.2_Silent_p.S3097S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3266	Sushi 25.					integral to membrane|plasma membrane				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						CAGCAGGGAAGGATAGCTCAT	0.453000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				48			18		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095473	167095473	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167095473G>A	uc001geb.1	+	4	1121	c.1105G>A	c.(1105-1107)Gga>Aga	p.G369R		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	369					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCCCCAGGATGGAGGTGGCTG	0.632000														6			3		0	0	1	0	0
FAM190A	401145	broad.mit.edu	37	4	91549184	91549184	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:91549184C>T	uc003hsv.4	+	5	2073	c.1733C>T	c.(1732-1734)tCc>tTc	p.S578F	FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.S578F	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	578										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						AGGAATCTTTCCCTGAAATTA	0.408000														48			18		0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21414770	21414770	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:21414770C>T	uc001iqm.3	-	1	501	c.450G>A	c.(448-450)ctG>ctA	p.L150L	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_3'UTR	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	150										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						AAGTCATTTTCAGCACCTTCT	0.393000														163			51		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47398567	47398567	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:47398567C>T	uc002leb.2	-	26	3861	c.3573G>A	c.(3571-3573)ccG>ccA	p.P1191P	MYO5B_uc002lea.2_Silent_p.P332P|Y_RNA_uc021uka.1_5'Flank	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1191					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.P1191P(2)|p.P1191Q(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GATCTGCATTCGGGTCCAAAT	0.507000														468			27		0	0	1	0	0
X06774	0	broad.mit.edu	37	7	38370174	38370174	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:38370174C>T	uc010kxj.1	-	1	260	c.124G>A	c.(124-126)Gat>Aat	p.D42N	X06774_uc010kxk.1_Non-coding_Transcript					Homo sapiens cDNA FLJ77147 complete cds, highly similar to Homo sapiens T cell receptor gamma variable 7, mRNA.																		ACAGGAAGATCACAAGTGATT	0.502000														67			35		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10106264	10106264	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10106264T>A	uc002mmq.1	-	15	1649	c.1563A>T	c.(1561-1563)ggA>ggT	p.G521G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	521	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)			GGCCAGGGGGTCCATGAGGTC	0.507000														37			14		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38937179	38937179	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38937179C>T	uc002oit.3	+	7	829	c.699C>T	c.(697-699)tcC>tcT	p.S233S	RYR1_uc002oiu.3_Silent_p.S233S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	233	MIR 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGACCATTTCCCCTGCTGACA	0.587000														75			26		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580505	140580505	+	Silent	SNP	G	A	A	rs57445845	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140580505G>A	uc003liy.3	+	0	1158	c.1158G>A	c.(1156-1158)ccG>ccA	p.P386P		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	386	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.P386L(1)		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)			GTTCCATTCCGGAAGACCTCC	0.448000														114			32		0	0	1	0	0
IGFL1	374918	broad.mit.edu	37	19	46733686	46733686	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46733686G>A	uc002pee.3	+	2	258	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_198541	NP_940943	Q6UW32	IGFL1_HUMAN	Homo sapiens IGF-like family member 1 (IGFL1), mRNA.	79						extracellular space	protein binding			lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		AGTCTGCTTTGAGCAGTGCTG	0.572000														125			32		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123038613	123038613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:123038613G>A	uc003egh.2	-	9	2164	c.2164C>T	c.(2164-2166)Cgt>Tgt	p.R722C	ADCY5_uc021xdd.1_Missense_Mutation_p.R372C|ADCY5_uc003egg.2_Missense_Mutation_p.R355C|ADCY5_uc003egi.1_Missense_Mutation_p.R281C	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	722					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding	p.R722H(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCAATGGCACGGCCCAGAAAC	0.592000														36			11		0	0	1	0	0
APOA2	336	broad.mit.edu	37	1	161193180	161193180	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161193180G>A	uc001fzc.1	-	1	70	c.12C>T	c.(10-12)ctC>ctT	p.L4L	APOA2_uc001fzb.1_Non-coding_Transcript|TOMM40L_uc010pkk.1_5'Flank|TOMM40L_uc010pkl.1_5'Flank|TOMM40L_uc001fzd.3_5'Flank|TOMM40L_uc009wue.3_5'Flank|TOMM40L_uc009wuf.2_5'Flank|TOMM40L_uc001fze.3_5'Flank	NM_001643	NP_001634	P02652	APOA2_HUMAN	Homo sapiens apolipoprotein A-II (APOA2), mRNA.	4					cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling	chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAGTTGCTGCGAGCAGCTTCA	0.572000														24			7		0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96123893	96123893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:96123893C>T	uc003hto.3	-	11	2478	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N	UNC5C_uc010ilc.2_Missense_Mutation_p.D728N	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	709	Interaction with DCC (By similarity).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTCAGGGCATCCTGGGTGTCA	0.597000														12			10		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152499804	152499804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152499804C>T	uc021vrb.1	-	55	8049	c.8020G>A	c.(8020-8022)Gag>Aag	p.E2674K	NEB_uc002txu.3_Missense_Mutation_p.E2674K|NEB_uc021vrc.1_Missense_Mutation_p.E2674K|NEB_uc010fnx.3_Missense_Mutation_p.E2674K|NEB_uc021vrd.1_Missense_Mutation_p.E2674K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2674					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTCATCCTCGAGAGAACCA	0.408000														77			24		0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548779	158548779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158548779C>T	uc010pin.2	-	0	911	c.911G>A	c.(910-912)aGc>aAc	p.S304N		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ATTCCTCAGGCTGAATATGAT	0.413000														126			60		0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79313613	79313613	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:79313613C>T	uc002sny.2	-	3	313	c.201G>A	c.(199-201)atG>atA	p.M67I	REG1B_uc010ffv.1_Missense_Mutation_p.M67I|REG1B_uc010ffw.3_3'UTR	NM_006507	NP_006498	P48304	REG1B_HUMAN	Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA.	67	C-type lectin.				cell proliferation	extracellular region	sugar binding	p.M67I(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TGCCTGAATTCATGTTCTGGC	0.498000														104			31		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169780186	169780186	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169780186C>T	uc002ueo.1	-	27	4038	c.3912G>A	c.(3910-3912)atG>atA	p.M1304I	ABCB11_uc010zda.1_Missense_Mutation_p.M722I|ABCB11_uc010zdb.1_Missense_Mutation_p.M780I	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1304	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTTTTTGGGCCATCAGTTCTT	0.512000														39			15		0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231249970	231249970	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:231249970G>A	uc010fxm.1	+	8	826	c.735G>A	c.(733-735)tcG>tcA	p.S245S	SP140L_uc010fxo.1_Silent_p.S52S	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	245						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AGCTGGTCTCGAGTGAAAAGA	0.458000														84			12		0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73490866	73490866	+	Silent	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:73490866A>C	uc001xnm.3	-	1	1072	c.351T>G	c.(349-351)ccT>ccG	p.P117P	ZFYVE1_uc010arj.3_Silent_p.P117P	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	Homo sapiens zinc finger, FYVE domain containing 1 (ZFYVE1), transcript variant 1, mRNA.	117						Golgi stack|endoplasmic reticulum|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		ACACAGTAACAGGGTGTCTCC	0.483000														236			94		0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64644340	64644340	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:64644340C>T	uc001dbj.2	+	8	3015	c.2616C>T	c.(2614-2616)ccC>ccT	p.P872P		NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	872	Ser/Thr-rich.				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						CTAGCTTGCCCTCATCAGGAT	0.507000														52			13		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30961728	30961728	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:30961728C>T	uc003tbv.2	+	1	542	c.432C>T	c.(430-432)atC>atT	p.I144I	FAM188B_uc011kac.1_Silent_p.I204I|FAM188B_uc010kwf.1_Silent_p.I61I|FAM188B_uc010kwh.1_Silent_p.I93I|FAM188B_uc022abh.1_Silent_p.I29I	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCGAGATCATCGGGACCCTCC	0.657000														67			16		0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10387029	10387029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10387029G>A	uc003wta.3	+	1	207	c.167G>A	c.(166-168)aGa>aAa	p.R56K	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.R56K|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	56					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TGTGGTGACAGATCTATTTTC	0.532000														124			42		0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116045904	116045904	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:116045904G>A	uc001lbl.1	+	10	1525	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	VWA2_uc001lbk.1_Missense_Mutation_p.D402N|VWA2_uc009xyf.1_Missense_Mutation_p.D98N	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	402	VWFA 2.					extracellular region				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)		GGAGTACCAGGATGTGCCTGA	0.682000														69			19		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017356	93017356	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:93017356C>T	uc022axs.1	-	5	1092	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	RUNX1T1_uc003yfc.2_Missense_Mutation_p.R216Q|RUNX1T1_uc010mam.3_Missense_Mutation_p.R216Q|RUNX1T1_uc003yfe.2_Missense_Mutation_p.R206Q|RUNX1T1_uc003yfd.3_Missense_Mutation_p.R243Q|RUNX1T1_uc022axo.1_Missense_Mutation_p.R243Q|RUNX1T1_uc010mao.3_Missense_Mutation_p.R216Q|RUNX1T1_uc011lgi.2_Missense_Mutation_p.R254Q|RUNX1T1_uc022axp.1_Missense_Mutation_p.R243Q|RUNX1T1_uc022axq.1_Missense_Mutation_p.R243Q|RUNX1T1_uc022axr.1_Missense_Mutation_p.R243Q|RUNX1T1_uc022axt.1_Missense_Mutation_p.R243Q|RUNX1T1_uc022axu.1_Missense_Mutation_p.R223Q|RUNX1T1_uc022axv.1_Missense_Mutation_p.R243Q|RUNX1T1_uc003yfb.2_Missense_Mutation_p.R206Q|RUNX1T1_uc003yff.1_Missense_Mutation_p.R206Q	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	243					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R206Q(1)|p.R254Q(1)|p.R243L(1)|p.R243Q(1)|p.R254L(1)|p.R206L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTCTGGAGTTCGCCTCTTCCC	0.522000														113			21		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685705	248685705	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248685705G>A	uc001ien.1	+	0	758	c.758G>A	c.(757-759)gGg>gAg	p.G253E		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTTTCTATGGGACCATCATA	0.438000														96			14		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564245	140564245	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140564245C>T	uc003liv.3	+	0	3266	c.2111C>T	c.(2110-2112)tCg>tTg	p.S704L	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	704					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTCTTTTCGGTGCTCCTG	0.697000														139			79		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042709	74042709	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74042709C>T	uc002sjr.1	+	2	1480	c.1359C>T	c.(1357-1359)ctC>ctT	p.L453L		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	453										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ATACTTACCTCCCCCCGATCT	0.463000														22			17		0	0	1	0	0
OR6B2	389090	broad.mit.edu	37	2	240969787	240969788	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:240969787_240969788GG>AA	uc010zoc.2	-	0	59_60	c.59_60CC>TT	c.(58-60)gcc>gTT	p.A20V	OR6B2_uc002vyr.3_Missense_Mutation_p.A20V	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GCAGCCCTGGGGCCGTGGGGAG	0.579000														58			6		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124395538	124395538	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124395538G>A	uc001lgk.1	+	49	6299	c.6193G>A	c.(6193-6195)Gaa>Aaa	p.E2065K	DMBT1_uc001lgl.1_Missense_Mutation_p.E2055K|DMBT1_uc001lgm.1_Missense_Mutation_p.E1437K|DMBT1_uc021qaf.1_Missense_Mutation_p.E2065K|DMBT1_uc021qag.1_Missense_Mutation_p.E2055K|DMBT1_uc021qah.1_Missense_Mutation_p.E1437K|DMBT1_uc009xzz.1_Missense_Mutation_p.E2064K|DMBT1_uc010qtx.1_Missense_Mutation_p.E785K|DMBT1_uc009yab.1_Missense_Mutation_p.E768K|DMBT1_uc009yac.1_Missense_Mutation_p.E359K	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2065	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGATTATATTGAAGTTTTCGA	0.507000														52			19		0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1119586	1119586	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:1119586G>A	uc002lrk.4	-	12	1540	c.1302C>T	c.(1300-1302)agC>agT	p.S434S	SBNO2_uc002lrj.4_Silent_p.S377S|SBNO2_uc010dse.3_Silent_p.S427S|SBNO2_uc010dsf.3_Silent_p.S377S	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	434					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		TACCCAAGCGGCTCATGTAGA	0.647000														14			6		0	0	1	0	0
PLIN1	5346	broad.mit.edu	37	15	90214766	90214766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90214766C>T	uc010upx.1	-	3	390	c.280G>A	c.(280-282)Ggc>Agc	p.G94S	PLIN1_uc002boh.2_Missense_Mutation_p.G94S	NM_001145311	NP_002657	O60240	PLIN1_HUMAN	Homo sapiens perilipin 1 (PLIN1), transcript variant 2, mRNA.	94					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						TGGTCCAAGCCTCGGCAGGCC	0.612000														2			7		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124355019	124355019	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124355019C>T	uc001uft.4	+	42	7297	c.7272C>T	c.(7270-7272)ttC>ttT	p.F2424F		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2424	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAGGAAATTCATCAACATCC	0.438000														29			9		0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18897384	18897384	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18897384C>T	uc002nke.3	-	10	1248	c.1212G>A	c.(1210-1212)ggG>ggA	p.G404G	COMP_uc002nkd.3_Silent_p.G371G|COMP_uc010xqj.2_Silent_p.G351G	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	404					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CACAGGCATCCCCTATACCAT	0.582000														54			14		0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179739455	179739455	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:179739455G>A	uc003mlw.1	-	14	1619	c.1521C>T	c.(1519-1521)atC>atT	p.I507I		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	507					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	p.E506D(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AGCCACGGATGATCTCTTGCC	0.433000														76			30		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566511	45566511	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:45566511C>T	uc010dnv.3	-	2	1470	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	ZBTB7C_uc002ldb.3_Missense_Mutation_p.G323E|ZBTB7C_uc010dnu.3_Missense_Mutation_p.G332E|ZBTB7C_uc010dnw.3_Missense_Mutation_p.G323E|ZBTB7C_uc010dnx.1_Missense_Mutation_p.G323E|ZBTB7C_uc010dny.1_Missense_Mutation_p.G323E|ZBTB7C_uc010dnz.1_Missense_Mutation_p.G345E|ZBTB7C_uc010doi.1_Missense_Mutation_p.G323E|ZBTB7C_uc010doj.1_Missense_Mutation_p.G332E|ZBTB7C_uc010dok.1_Missense_Mutation_p.G372E|ZBTB7C_uc010dol.1_Missense_Mutation_p.G332E|ZBTB7C_uc010doa.1_Missense_Mutation_p.G345E|ZBTB7C_uc010dob.1_Missense_Mutation_p.G323E|ZBTB7C_uc010doc.1_Missense_Mutation_p.G332E|ZBTB7C_uc010dod.1_Missense_Mutation_p.G345E|ZBTB7C_uc010doe.1_Missense_Mutation_p.G323E|ZBTB7C_uc010dof.1_Missense_Mutation_p.G323E|ZBTB7C_uc010dog.1_Missense_Mutation_p.G323E|ZBTB7C_uc010doh.1_Missense_Mutation_p.G332E|ZBTB7C_uc010dom.1_Missense_Mutation_p.G332E|ZBTB7C_uc010don.1_Missense_Mutation_p.G331E|ZBTB7C_uc010dop.1_Missense_Mutation_p.G323E|ZBTB7C_uc010doq.1_Missense_Mutation_p.G332E|ZBTB7C_uc010dor.1_Missense_Mutation_p.G345E|ZBTB7C_uc010dos.1_Missense_Mutation_p.G323E|ZBTB7C_uc010dot.1_Missense_Mutation_p.G323E|ZBTB7C_uc010doo.1_Missense_Mutation_p.G323E|ZBTB7C_uc010dou.1_Missense_Mutation_p.G332E	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	323						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CTTGATGGGTCCCAGAGGCCC	0.632000														71			29		0	0	1	0	0
CASP10	843	broad.mit.edu	37	2	202052442	202052442	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:202052442G>A	uc002uxj.1	+	2	779	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	CASP10_uc002uxi.1_Missense_Mutation_p.E121K|CASP10_uc010zhn.1_Intron|CASP10_uc010ftb.2_Missense_Mutation_p.E121K|CASP10_uc010fta.1_Missense_Mutation_p.E121K|CASP10_uc002uxk.1_Missense_Mutation_p.E121K|CASP10_uc002uxl.2_Missense_Mutation_p.E121K|CASP10_uc002uxm.2_Missense_Mutation_p.E121K	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	121	DED 2.				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CCTGCTCTACGAACTGTCAGA	0.403000														95			34		0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100890474	100890474	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:100890474C>T	uc004aym.3	-	9	1265	c.1149G>A	c.(1147-1149)gaG>gaA	p.E383E	CORO2A_uc004ayl.3_Silent_p.E383E|CORO2A_uc004ayk.3_5'Flank	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	383					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CGCTGAGCCACTCCTGGGCCG	0.592000														271			96		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745185	140745185	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140745185C>T	uc003lju.2	+	0	1288	c.1288C>T	c.(1288-1290)Ccg>Tcg	p.P430S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.P430S	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	432	Cadherin 4.				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)			CCATGGAACCCCGCCCCTCTC	0.458000														115			45		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067679	9067679	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9067679G>A	uc002mkp.3	-	2	19971	c.19767C>T	c.(19765-19767)tcC>tcT	p.S6589S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6591	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						CTATGTTTGTGGAAGGATACA	0.453000														111			48		0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165503967	165503968	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:165503967_165503968CC>TT	uc003fem.4	-	2	1809_1810	c.1649_1650GG>AA	c.(1648-1650)tgg>tAA	p.W550*	BCHE_uc003fen.4_Non-coding_Transcript	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	550					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.W550R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AAAATGATGTCCAGAATCGACA	0.351000														67			10		0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10476376	10476376	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10476376G>A	uc002moc.4	-	6	1206	c.828C>T	c.(826-828)ccC>ccT	p.P276P	TYK2_uc010dxe.3_Silent_p.P91P|TYK2_uc002mod.2_Silent_p.P276P	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	276	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.P276P(2)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGTGGCACACGGGCACACGCT	0.677000														22			8		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83348509	83348509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83348509G>A	uc010uoi.2	-	9	1331	c.1154C>T	c.(1153-1155)aCc>aTc	p.T385I	AP3B2_uc010uoh.2_Missense_Mutation_p.T385I|AP3B2_uc010uoj.2_Missense_Mutation_p.T353I|AP3B2_uc010uog.2_Missense_Mutation_p.T21I	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	385					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGTGGGGTCGGTGGACCTGAT	0.577000														48			29		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282107	52282107	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52282107G>A	uc001rzd.3	+	0	315	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	ANKRD33_uc001rzh.4_Missense_Mutation_p.R46Q|ANKRD33_uc001rzf.4_5'UTR|ANKRD33_uc001rze.3_5'UTR|ANKRD33_uc001rzg.4_5'UTR|ANKRD33_uc001rzi.4_5'UTR	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GATACCCTACGAACCCCAAGT	0.592000														44			18		0	0	1	0	0
SMCP	4184	broad.mit.edu	37	1	152856947	152856947	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152856947C>T	uc021ozk.1	+	0	49	c.49C>T	c.(49-51)Caa>Taa	p.Q17*	SMCP_uc001fat.3_Nonsense_Mutation_p.Q17*	NM_030663	NP_109588	P49901	MCSP_HUMAN	Homo sapiens sperm mitochondria-associated cysteine-rich protein (SMCP), nuclear gene encoding mitochondrial protein, mRNA.	17	7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida|sperm motility	mitochondrial membrane				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAAGGCAATCAATGCTGCCC	0.458000														95			16		0	0	1	0	0
C19orf55	148137	broad.mit.edu	37	19	36255778	36255778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36255778C>T	uc021usz.1	+	5	640	c.567C>T	c.(565-567)tcC>tcT	p.S189S		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	189										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAACTCATCCCTGCTGGACC	0.627000														32			8		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70048889	70048889	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70048889G>A	uc001svg.3	-	9	2032	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.S389F|BEST3_uc010stm.2_Missense_Mutation_p.S496F	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	602						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTTTCCCAGGGAAGTGTGGCT	0.498000														37			24		0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38565541	38565541	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38565541C>T	uc003cih.2	+	5	891	c.795C>T	c.(793-795)ttC>ttT	p.F265F	EXOG_uc010hhg.3_Non-coding_Transcript|EXOG_uc010hhf.2_Silent_p.F125F|EXOG_uc003cii.2_Silent_p.F125F|EXOG_uc011ayq.1_Silent_p.F215F|EXOG_uc003cij.2_Silent_p.F125F|EXOG_uc010hhd.2_Silent_p.F125F|EXOG_uc010hhe.2_Silent_p.F125F|EXOG_uc003cik.2_Silent_p.F125F	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	Homo sapiens endo/exonuclease (5'-3'), endonuclease G-like (EXOG), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	265						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TAACTGAATTCCAAGTGAGCC	0.512000														111			24		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7976593	7976593	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7976593C>T	uc002gjy.1	-	13	2060	c.1799G>A	c.(1798-1800)cGg>cAg	p.R600Q		NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	600	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CGGTGGATTCCGCATGGACGC	0.587000										Multiple Myeloma(8;0.094)				129			89		0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49869412	49869412	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49869412G>A	uc003cxs.1	-	10	1080	c.974C>T	c.(973-975)cCc>cTc	p.P325L	TRAIP_uc010hla.1_Missense_Mutation_p.P226L	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	325	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCGGGCTGGGGGAGTATCCAC	0.547000														67			29		0	0	1	0	0
ZDHHC8P1	150244	broad.mit.edu	37	22	23742556	23742556	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:23742556G>A	uc002zxa.4	-	2		c.580C>T			ZDHHC8P1_uc002zxb.4_Non-coding_Transcript|ZDHHC8P1_uc002zwz.4_Non-coding_Transcript					Homo sapiens zinc finger, DHHC-type containing 8 pseudogene 1 (ZDHHC8P1), non-coding RNA.																		AGGGGCTGCAGGGCCACGTAG	0.642000														15			7		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296056	20296056	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20296056T>C	uc010tkv.2	+	0	449	c.449T>C	c.(448-450)cTt>cCt	p.L150P		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTCTGTGGCTTGGGGGTTTT	0.532000														153			73		0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33877622	33877622	+	Silent	SNP	C	G	G	rs143026467		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:33877622C>G	uc003cfx.3	+	7	1076	c.921C>G	c.(919-921)gcC>gcG	p.A307A	PDCD6IP_uc003cfy.3_Silent_p.A312A|PDCD6IP_uc011axw.2_Silent_p.A88A	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	Homo sapiens programmed cell death 6 interacting protein (PDCD6IP), transcript variant 1, mRNA.	307	BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCAATCGTGCCCTTGCTGCAG	0.373000														145			63		0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55065679	55065679	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55065679G>A	uc021qjb.1	-	0		c.30C>T			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		ACTGGGTCTAGGAAGTAGTTC	0.473000														93			49		0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32476018	32476018	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:32476018G>A	uc002roi.3	-	3	1176	c.915C>T	c.(913-915)gcC>gcT	p.A305A	NLRC4_uc021vfq.1_Silent_p.A305A|NLRC4_uc002roj.2_Silent_p.A305A|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	305	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			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)					TGAGAGCCTGGGCGCTGTCTT	0.532000														77			34		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55223733	55223733	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55223733G>A	uc003pcm.1	+	5	835	c.749G>A	c.(748-750)aGa>aAa	p.R250K		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	250						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CGTGTGACTAGAAAGTGCCAT	0.378000														73			31		0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42992800	42992800	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:42992800C>T	uc021tyh.1	-	0	121	c.55G>A	c.(55-57)Gag>Aag	p.E19K	GFAP_uc002ihq.3_Missense_Mutation_p.E19K|GFAP_uc002ihr.3_Missense_Mutation_p.E19K|GFAP_uc010wjg.2_Non-coding_Transcript	NM_001242376	NP_001229305	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA.	19	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ACCATCATCTCCCCTGAGGAG	0.667000														9			6		0	0	1	0	0
SLC30A2	7780	broad.mit.edu	37	1	26365705	26365705	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26365705C>T	uc001blg.1	-	7	1282	c.1065G>A	c.(1063-1065)gaG>gaA	p.E355E	SLC30A2_uc001blh.1_Silent_p.E306E	NM_001004434	NP_001004434	Q9BRI3	ZNT2_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 2 (SLC30A2), transcript variant 1, mRNA.	306					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CCGAGTAGTCCTCGATCTGGA	0.612000														35			4		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219874711	219874711	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219874711C>T	uc002vjl.1	-	26	4489	c.4405G>A	c.(4405-4407)Gag>Aag	p.E1469K		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1469						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAATTTCCTCGTTCTTGGAG	0.532000														48			11		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35756549	35756549	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:35756549C>T	uc021rid.1	+	28	5249	c.4715C>T	c.(4714-4716)tCg>tTg	p.S1572L	NBEA_uc021ric.1_Missense_Mutation_p.S1569L|NBEA_uc010abi.3_Missense_Mutation_p.S260L	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1572						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)		TACTTCATTTCGGTTCTGATG	0.373000														98			29		0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101117834	101117834	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:101117834G>A	uc003dut.3	-	5	659	c.548C>T	c.(547-549)cCa>cTa	p.P183L	SENP7_uc003duu.3_Intron|SENP7_uc003duv.3_Missense_Mutation_p.P150L|SENP7_uc003duw.3_Missense_Mutation_p.P117L|SENP7_uc003dux.3_Intron	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	183					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGTTACAGGTGGGGTCCTTAT	0.403000														75			33		0	0	1	0	0
immunoglobulin_heavy_chain	0	broad.mit.edu	37	14	107034732	107034732	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:107034732C>T	uc001ysz.3	-	1	377	c.348G>A	c.(346-348)gcG>gcA	p.A116A	abParts_uc021ser.1_Non-coding_Transcript					Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene.																		CTGTGTGTCTCGCACAGTAAT	0.597000														160			17		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25416232	25416232	+	Missense_Mutation	SNP	C	T	T	rs140457030		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25416232C>T	uc001upr.3	+	18	2577	c.2536C>T	c.(2536-2538)Cct>Tct	p.P846S	RNF17_uc010tdd.1_Missense_Mutation_p.P705S|RNF17_uc010tde.2_Missense_Mutation_p.P846S|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.P785S|RNF17_uc010aac.3_Missense_Mutation_p.P44S|RNF17_uc010aad.3_5'Flank	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	846					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)		TCTTGGTGCTCCTGAAATGAC	0.343000														64			22		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11218112	11218112	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11218112G>A	uc002mqk.4	+	5	1049	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	LDLR_uc010xlk.2_Missense_Mutation_p.E288K|LDLR_uc010xll.2_Missense_Mutation_p.E247K|LDLR_uc021upc.1_Missense_Mutation_p.E167K|LDLR_uc010xln.2_Missense_Mutation_p.E161K|LDLR_uc010xlo.2_Missense_Mutation_p.E120K|LDLR_uc010xlm.2_Missense_Mutation_p.E141K|LDLR_uc021upd.1_Missense_Mutation_p.E25K	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	288	LDL-receptor class A 7.		E -> K (in FH; German patient).		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.?(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)	TCACAGCGGCGAATGCATCAC	0.562000														52			11		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827110	96827110	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96827110G>A	uc001kkb.3	-	2	431	c.336C>T	c.(334-336)atC>atT	p.I112I	CYP2C8_uc010qoa.2_Silent_p.I42I|CYP2C8_uc010qoc.2_Silent_p.I10I|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Silent_p.I26I|CYP2C8_uc021pwl.1_Silent_p.I42I|CYP2C8_uc010qod.1_Silent_p.I26I	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	112					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TGCTGGAAATGATTCCTAATA	0.488000														51			17		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488296	108488296	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:108488296G>A	uc010ywk.2	+	19	3918	c.3836G>A	c.(3835-3837)aGa>aAa	p.R1279K	RGPD4_uc002tdu.3_Missense_Mutation_p.R466K|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1279					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGCCCTGTGAGAAAAAATCTT	0.393000														338			122		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228309	142228309	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:142228309G>A	uc003ywd.1	-	3	1585	c.1277C>T	c.(1276-1278)aCc>aTc	p.T426I	SLC45A4_uc003ywc.1_Missense_Mutation_p.T426I|SLC45A4_uc010meq.1_Missense_Mutation_p.T424I	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	477					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCTGGAGGTGGTGGCCCCGCT	0.677000														29			6		0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86542418	86542418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:86542418C>T	uc011kha.2	-	13	2019	c.1834G>A	c.(1834-1836)Gaa>Aaa	p.E612K	KIAA1324L_uc003uie.3_Missense_Mutation_p.E445K|KIAA1324L_uc011kgz.2_Missense_Mutation_p.E498K|KIAA1324L_uc003uif.2_Missense_Mutation_p.E364K	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	612						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCCGACTGTTCAGAACCGAGG	0.517000														58			12		0	0	1	0	0
CDC123	8872	broad.mit.edu	37	10	12279228	12279228	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:12279228C>T	uc001ill.3	+	8	935	c.651C>T	c.(649-651)ttC>ttT	p.F217F		NM_006023	NP_006014	O75794	CD123_HUMAN	Homo sapiens cell division cycle 123 homolog (S. cerevisiae) (CDC123), mRNA.	217					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm		p.F217L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						AAGACTTTTTCAAGAAACACA	0.289000														67			28		0	0	1	0	0
ZNF192	7745	broad.mit.edu	37	6	28120072	28120072	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28120072C>T	uc003nkn.1	+	4	869	c.685C>T	c.(685-687)Ctt>Ttt	p.L229F	ZNF192_uc010jqx.1_Missense_Mutation_p.L229F|ZNF192_uc010jqy.1_Missense_Mutation_p.L42F|ZNF192_uc011dkz.1_Missense_Mutation_p.L42F	NM_006298	NP_006289	Q15776	ZN192_HUMAN	Homo sapiens zinc finger protein 192 (ZNF192), mRNA.	229	KRAB.				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGCTGTGTCCCTTATTCGAGA	0.453000														147			36		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32138307	32138307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:32138307C>T	uc001rks.3	+	3	4832	c.4418C>T	c.(4417-4419)cCa>cTa	p.P1473L		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1473										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AAAAACGTGCCATGTGATTCT	0.398000														80			36		0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178879114	178879114	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:178879114C>T	uc002ulq.3	-	1	1304	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	PDE11A_uc002ulr.3_Missense_Mutation_p.R79Q|PDE11A_uc002ult.1_Missense_Mutation_p.R79Q	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	329	GAF 1.				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)			ATCACTGCTTCGGATAGGCAT	0.373000									Primary Pigmented Nodular Adrenocortical Disease, Familial					103			26		0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23318846	23318846	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:23318846G>A	uc002nrb.1	+	3		c.425_splice	c.e3+1							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						AAACCCCCAGGTAGGTGACAG	0.363000														100			30		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282435	52282435	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52282435G>A	uc001rzd.3	+	1	407	c.229G>A	c.(229-231)Gac>Aac	p.D77N	ANKRD33_uc001rzh.4_Missense_Mutation_p.D77N|ANKRD33_uc001rzf.4_5'UTR|ANKRD33_uc001rze.3_5'UTR|ANKRD33_uc001rzg.4_5'UTR|ANKRD33_uc001rzi.4_5'UTR	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GAGACGGCTGGACATGTCTGA	0.597000														80			9		0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1634338	1634338	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1634338G>A	uc002cmb.3	-	10	1601	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	IFT140_uc002clz.3_Silent_p.F64F	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	413										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CTTGCTGGTGGAAGTGTGACG	0.607000														13			6		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561305	44561305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:44561305C>T	uc002lcr.1	-	0	684	c.331G>A	c.(331-333)Ggc>Agc	p.G111S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	111					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCTGGGAAGCCCCAGGCCTTT	0.662000														94			34		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974178	35974178	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:35974178C>T	uc004ddj.3	+	7	1341	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	425										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AACCTTGTTTCATGGGTGAAC	0.363000														59			36		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38951115	38951115	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38951115C>T	uc002oit.3	+	19	2591	c.2461C>T	c.(2461-2463)Cat>Tat	p.H821Y	RYR1_uc002oiu.3_Missense_Mutation_p.H821Y	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	821					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGAGCGACTCCATCTTGAACC	0.647000														120			40		0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11319416	11319416	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11319416G>A	uc002mqs.4	-	38	5075	c.5034C>T	c.(5032-5034)ttC>ttT	p.F1678F	DOCK6_uc002mqr.4_Silent_p.F76F|DOCK6_uc010xlq.2_Silent_p.F1017F	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1678	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCAGCTCAGTGAAGTGCTTCC	0.642000														44			18		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54802530	54802530	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54802530G>A	uc002qfd.3	-	4	1003	c.911C>T	c.(910-912)tCc>tTc	p.S304F	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Missense_Mutation_p.S240F	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	303	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCACTCGGAGGAGAGGTTGTA	0.677000														74			27		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88853988	88853989	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:88853988_88853989GG>AA	uc010kbz.3	-	1	1135_1136	c.1005_1006CC>TT	c.(1003-1008)gcccgc>gcTTgc	p.R336C	CNR1_uc011dzr.2_Missense_Mutation_p.R336C|CNR1_uc011dzs.2_Missense_Mutation_p.R336C|CNR1_uc003pmq.4_Missense_Mutation_p.R336C|CNR1_uc011dzt.2_Missense_Mutation_p.R336C|CNR1_uc010kca.3_Missense_Mutation_p.R303C|CNR1_uc021zco.1_Missense_Mutation_p.R336C	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	336					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.R336H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ATGTCCATGCGGGCTTGGTCTG	0.564000														67			44		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88476386	88476386	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:88476386C>T	uc002bme.2	-	15	2052	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R	NTRK3_uc002bmh.2_Silent_p.R574R|NTRK3_uc002bmf.2_Silent_p.R582R|NTRK3_uc021sua.1_Silent_p.R574R|NTRK3_uc010upl.1_Silent_p.R484R|NTRK3_uc010bnh.1_Silent_p.R574R	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	582	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGAAATCCTTCCGGGCAGCCA	0.567000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				49			51		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134992588	134992588	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:134992588C>T	uc004ezh.3	+	15	2046	c.1879C>T	c.(1879-1881)Cac>Tac	p.H627Y	SAGE1_uc010nry.1_Missense_Mutation_p.H596Y|SAGE1_uc011mvv.2_Missense_Mutation_p.H251Y	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	627										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGCAGTCACTCACAACATCCG	0.483000														51			27		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120369297	120369297	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:120369297G>A	uc002tmb.3	+	13	1544	c.432G>A	c.(430-432)cgG>cgA	p.R144R	PCDP1_uc010yyq.2_Silent_p.R274R	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	430						cilium	calmodulin binding					Colorectal(110;0.196)					GCCATAAACGGGTTGTTCGCA	0.328000														71			13		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22712610	22712610	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22712610C>T	uc021wml.1	+	44		c.5022_splice	c.e44+1							Parts of antibodies, mostly variable regions.																		CTGAGTGGTCCCACAGTGCTC	0.637000														176			19		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73489018	73489018	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73489018C>T	uc010wsa.2	+	14	2143	c.1951C>T	c.(1951-1953)Cct>Tct	p.P651S	KIAA0195_uc002jnz.4_Missense_Mutation_p.P641S|KIAA0195_uc010wsb.2_Missense_Mutation_p.P281S|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	641					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGCTTCACTCCTGGGGCCAA	0.607000														130			47		0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49668450	49668450	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:49668450C>T	uc003ozn.2	-	4	350	c.114G>A	c.(112-114)agG>agA	p.R38R	CRISP2_uc003ozr.2_Silent_p.R38R|CRISP2_uc003ozo.2_Silent_p.R38R|CRISP2_uc003ozm.2_Silent_p.R38R|CRISP2_uc003ozp.2_Silent_p.R38R|CRISP2_uc003ozq.2_Silent_p.R38R|CRISP2_uc003ozl.2_Silent_p.R38R	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	38						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTACAATCTCCCTTTGCACTT	0.363000														88			25		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134621897	134621897	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:134621897G>A	uc021qbc.1	-	58	8278	c.8177_splice	c.e58+1			NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.											breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CACAGAGACTGGCTTTTGTTG	0.557000														182			63		0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67303082	67303082	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:67303082A>T	uc002jif.2	-	4	1790	c.572T>A	c.(571-573)gTt>gAt	p.V191D	ABCA5_uc002jig.2_Missense_Mutation_p.V191D|ABCA5_uc002jih.2_Missense_Mutation_p.V191D|ABCA5_uc010dfe.2_Missense_Mutation_p.V191D	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	191					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CCAAAGAGAAACATTGGTCTT	0.343000														87			41		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145111880	145111880	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145111880C>T	uc003zar.3	-	11	1759	c.1677G>A	c.(1675-1677)gtG>gtA	p.V559V	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	559							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCAGAGCATCCACACACTGCT	0.652000														7			3		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202266700	202266700	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:202266700G>A	uc001gxu.3	+	6	781	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	LGR6_uc001gxv.3_Missense_Mutation_p.E209K|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.E122K|LGR6_uc009xac.1_Non-coding_Transcript	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	261						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CAGACTGCAGGAACTGTAAGC	0.557000														81			30		0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159165961	159165961	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:159165961G>A	uc002tzq.3	-	8	1408	c.1094C>T	c.(1093-1095)gCt>gTt	p.A365V	CCDC148_uc002tzr.3_Missense_Mutation_p.A213V|CCDC148_uc010foh.3_Missense_Mutation_p.A78V|CCDC148_uc010fok.2_Missense_Mutation_p.A279V|CCDC148_uc010foi.2_Missense_Mutation_p.A312V|CCDC148_uc010foj.2_Missense_Mutation_p.A213V	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	365										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTTCAGATCAGCACACAATTC	0.403000														60			25		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6239815	6239815	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:6239815C>T	uc002kmz.4	-	8	769	c.609G>A	c.(607-609)agG>agA	p.R203R	L3MBTL4_uc002kmy.4_Silent_p.R203R|L3MBTL4_uc010dkt.3_Silent_p.R203R	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	203					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				AAGGGTTCTTCCTGTCCACGG	0.463000														68			24		0	0	1	0	0
IL6	3569	broad.mit.edu	37	7	22767223	22767223	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:22767223C>T	uc003svj.4	+	1	296	c.180C>T	c.(178-180)atC>atT	p.I60I	LOC541472_uc010kun.2_Non-coding_Transcript|IL6_uc011jyo.1_Silent_p.I60I|IL6_uc011jyp.1_Intron|IL6_uc011jyq.1_Silent_p.I114I	NM_000600	NP_000591	P05231	IL6_HUMAN	Homo sapiens interleukin 6 (interferon, beta 2) (IL6), mRNA.	60					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of B cell activation|positive regulation of T cell proliferation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	TTCGGTACATCCTCGACGGCA	0.592000														55			23		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394679	164394679	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:164394679C>T	uc003iqp.4	-	0	369	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	70						cytoplasm	metal ion binding|transketolase activity	p.N69K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGAACCGGTCGTTGTCCGGG	0.552000														31			9		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101092443	101092443	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:101092443C>T	uc003yjb.1	-	3	453	c.258G>A	c.(256-258)agG>agA	p.R86R	RGS22_uc003yja.1_5'UTR|RGS22_uc003yjc.1_Silent_p.R86R|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_5'UTR	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	86				Missing (in Ref. 1; AAH92411).	negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCTTTCCTTTCCTTACAACAT	0.338000														74			35		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47432807	47432807	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:47432807C>T	uc002leb.2	-	18	2684	c.2396G>A	c.(2395-2397)cGg>cAg	p.R799Q		NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	799	IQ 2.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.R799W(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAGGTGTCCCCGGCAGTACCT	0.582000														51			7		0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770263	53770263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53770263C>T	uc010ydu.2	-	0	656	c.656G>A	c.(655-657)aGc>aAc	p.S219N		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	219					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GGAGAGATTGCTCCTATCAAT	0.547000										HNSCC(26;0.072)				26			9		0	0	1	0	0
CIB4	130106	broad.mit.edu	37	2	26806663	26806663	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:26806663C>T	uc002rhm.3	-	4	461	c.432G>A	c.(430-432)acG>acA	p.T144T		NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN	Homo sapiens calcium and integrin binding family member 4 (CIB4), mRNA.	144	EF-hand 3.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACGTGGTTCGTGAGGTCCA	0.582000														76			15		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55177268	55177268	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55177268C>T	uc002qgp.3	+	6	1122	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	LILRB4_uc002qgq.3_Silent_p.L254L|LILRB4_uc010ert.3_Silent_p.L295L|LILRB4_uc010eru.3_Silent_p.L283L	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.	254						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)		CGCCCAAGGTCTGAGAAGGCA	0.537000														10			4		0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15234287	15234287	+	Missense_Mutation	SNP	G	A	A	rs34470764		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15234287G>A	uc002nam.3	-	2	357	c.236C>T	c.(235-237)tCc>tTc	p.S79F	ILVBL_uc010dzx.1_Missense_Mutation_p.S79F	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	Homo sapiens ilvB (bacterial acetolactate synthase)-like (ILVBL), mRNA.	79						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CAGCAGCGGGGAAATGTGCCC	0.637000														67			28		0	0	1	0	0
ALG8	79053	broad.mit.edu	37	11	77812146	77812146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:77812146G>A	uc001oza.1	-	12	1510	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	ALG8_uc001oyz.1_3'UTR	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	Homo sapiens asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG8), transcript variant 1, mRNA.	482					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			CACCTTCCAGGAGGTGAAAGG	0.423000														89			28		0	0	1	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356906	104356906	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104356906C>T	uc004bbr.3	-	0	378	c.307G>A	c.(307-309)Gac>Aac	p.D103N	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	100	EF-hand 3.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	TTATCCATGTCGTAAATGCTG	0.532000														114			29		0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54140039	54140039	+	Nonsense_Mutation	SNP	C	T	T	rs150237904		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54140039C>T	uc002qcf.1	+	2	424	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CACGGGTCATCGAGTCCCCTC	0.567000														99			12		0	0	1	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16734078	16734078	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrY:16734078C>T	uc011nas.1	+	1	258	c.79C>T	c.(79-81)Ctg>Ttg	p.L27L	NLGN4Y_uc004fte.2_Intron|NLGN4Y_uc004ftg.2_Silent_p.L27L|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Silent_p.L27L|NLGN4Y_uc004fti.4_Silent_p.L27L	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	27					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CAATGTTCTTCTGTGGATAAC	0.458000														38			16		0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65141095	65141095	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:65141095G>A	uc001dbo.1	+	19	2691	c.2586G>A	c.(2584-2586)acG>acA	p.T862T	CACHD1_uc001dbp.1_Silent_p.T617T|CACHD1_uc001dbq.1_Silent_p.T617T|CACHD1_uc010opa.1_Silent_p.T106T	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	913					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGGATTTGACGAACCTTGTGC	0.468000											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73			26		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204950989	204950989	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204950989G>A	uc010prc.2	+	19	2541	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	NFASC_uc001hbj.3_Missense_Mutation_p.E771K|NFASC_uc010pra.2_Missense_Mutation_p.E767K|NFASC_uc001hbi.3_Missense_Mutation_p.E767K|NFASC_uc010prb.2_Missense_Mutation_p.E782K|NFASC_uc001hbk.1_Missense_Mutation_p.E577K|NFASC_uc001hbl.2_Missense_Mutation_p.E21K			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	771	Ig-like C2-type 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GAGGCGGAGAGAGACTCGAGA	0.622000														53			18		0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58197165	58197165	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:58197165C>T	uc001sqj.2	-	14	1856	c.1827G>A	c.(1825-1827)caG>caA	p.Q609Q	AVIL_uc009zqe.2_Silent_p.Q602Q|AVIL_uc001sqk.1_Silent_p.Q187Q	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	609	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CTAGGATTTCCTGCTGAAGTC	0.438000											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		125			66		0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103345860	103345861	+	Missense_Mutation	DNP	GG	AA	AA	rs61757734	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:103345860_103345861GG>AA	uc001ktg.1	-	1	934_935	c.168_169CC>TT	c.(166-171)gcccgg>gcTTgg	p.R57W	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001ktj.2_Missense_Mutation_p.R57W|POLL_uc010qqb.2_Intron|POLL_uc001ktf.3_Missense_Mutation_p.R57W|POLL_uc001kti.2_Missense_Mutation_p.R57W|POLL_uc001ktl.3_5'UTR|POLL_uc001ktm.3_Missense_Mutation_p.R57W|POLL_uc010qqc.2_5'UTR|POLL_uc010qqa.2_Intron|POLL_uc010qqd.2_5'UTR|DPCD_uc001ktn.3_5'Flank	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	57	BRCT.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGTTCTGCCCGGGCTCGTCCAA	0.535000								DNA polymerases (catalytic subunits)						43			18		0	0	1	0	0
TMEM203	94107	broad.mit.edu	37	9	140099732	140099732	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140099732G>A	uc004clv.3	-	0	359	c.135C>T	c.(133-135)tcC>tcT	p.S45S	NDOR1_uc004clx.3_5'Flank|NDOR1_uc004clw.3_5'Flank|NDOR1_uc011mes.2_5'Flank|NDOR1_uc004cly.3_5'Flank	NM_053045	NP_444273	Q969S6	TM203_HUMAN	Homo sapiens transmembrane protein 203 (TMEM203), mRNA.	45						integral to membrane				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGTTCCACCAGGAGAGGCCCG	0.622000														22			5		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103057146	103057146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:103057146G>A	uc001phn.1	+	41	6953	c.6809G>A	c.(6808-6810)cGa>cAa	p.R2270Q	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.R2270Q	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2270	AAA 3 (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)		GACATGCAACGAGGTCTAGAT	0.408000														51			19		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123494522	123494522	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:123494522G>A	uc001uej.1	-	4	717	c.518C>T	c.(517-519)tCc>tTc	p.S173F	PITPNM2_uc001uek.1_Missense_Mutation_p.S173F|PITPNM2_uc009zxu.1_Missense_Mutation_p.S173F	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	173					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCAGTTCTCGGACAGGGGCCC	0.552000														138			72		0	0	1	0	0
MMP11	4320	broad.mit.edu	37	22	24125674	24125674	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:24125674C>T	uc002zxx.3	+	7	1432	c.1410C>T	c.(1408-1410)ccC>ccT	p.P470P	MMP11_uc002zxy.3_Non-coding_Transcript	NM_005940	NP_005931	P24347	MMP11_HUMAN	Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA.	470	Hemopexin-like 4.				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				AAGGCTTCCCCCGTCTCGTGG	0.607000														76			31		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41900269	41900269	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:41900269G>A	uc010skn.2	+	3	863	c.855G>A	c.(853-855)aaG>aaA	p.K285K	PDZRN4_uc001rmq.4_Silent_p.K27K|PDZRN4_uc009zjz.3_Silent_p.K25K	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	285	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCAATGGGAAGGATCTTTCAA	0.438000														59			11		0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	907761	907761	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:907761G>A	uc001ace.3	+	8	1150	c.1115G>A	c.(1114-1116)gGg>gAg	p.G372E	PLEKHN1_uc001acd.3_Missense_Mutation_p.G320E|PLEKHN1_uc001acf.3_Missense_Mutation_p.G332E	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	372										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CACAGGGAGGGGGCCCCGCCG	0.672000														3			7		0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	484774	484775	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:484774_484775CC>TT	uc003jbe.2	-	4	904_905	c.792_793GG>AA	c.(790-795)gtgggg>gtAAgg	p.G265R	SLC9A3_uc011clx.1_Missense_Mutation_p.G265R	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	265						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AAGACCACCCCCACCAGCGTGC	0.644000														66			29		0	0	1	0	0
SLC25A40	55972	broad.mit.edu	37	7	87487997	87487997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87487997G>A	uc003uje.3	-	2	421	c.46C>T	c.(46-48)Ctt>Ttt	p.L16F		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	Homo sapiens solute carrier family 25, member 40 (SLC25A40), nuclear gene encoding mitochondrial protein, mRNA.	16					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					ATTTGTTGAAGAGGTGTCACT	0.323000														49			18		0	0	1	0	0
ARL6IP5	10550	broad.mit.edu	37	3	69151000	69151000	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:69151000C>T	uc003dnr.3	+	1	296	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S		NM_006407	NP_006398	O75915	PRAF3_HUMAN	Homo sapiens ADP-ribosylation-like factor 6 interacting protein 5 (ARL6IP5), mRNA.	63					L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		GTTTCTGAGTCCCTTCAACAT	0.453000														23			6		0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109190152	109190152	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:109190152C>T	uc003pss.4	+	3	591	c.417C>T	c.(415-417)gcC>gcT	p.A139A	ARMC2_uc011eao.2_5'UTR	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	139							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TCAGGGCTGCCTCCCAGCGGG	0.552000														34			21		0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99441632	99441632	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:99441632C>T	uc003yin.3	+	1	1775	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S	KCNS2_uc022azb.1_Silent_p.S475S	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	475						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TAAATGATTCCCTACGTTAGC	0.493000														55			15		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38766682	38766682	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38766682G>A	uc003ciq.3	-	16	3211	c.3211C>T	c.(3211-3213)Cct>Tct	p.P1071S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1071					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGGACCTGAGGAACAGACTCA	0.607000														42			21		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43909390	43909390	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:43909390C>T	uc001cjk.2	+	60	8661	c.6051C>T	c.(6049-6051)ttC>ttT	p.F2017F	SZT2_uc001cjl.2_5'Flank	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2916						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCTTGGCTTTCCTGCAGCAAT	0.622000														160			57		0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353847	45353847	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:45353847G>A	uc002xsl.3	+	1	269	c.172G>A	c.(172-174)Gct>Act	p.A58T		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	58						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GCTCCTGGGGGCTCTCCTCGC	0.607000														43			15		0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23409421	23409421	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23409421G>A	uc002dlo.3	-	13	2030	c.1833C>T	c.(1831-1833)acC>acT	p.T611T		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	611					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CATCTGTGAGGGTTTCTCCGA	0.532000														37			14		0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117708	46117708	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46117708C>T	uc002zfw.1	+	0	622	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	198	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						CGTGTCCCTCCTCTGCCGCCC	0.701000														179			50		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24529224	24529224	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24529224C>T	uc001wlj.2	+	22	2071	c.1914C>T	c.(1912-1914)tcC>tcT	p.S638S	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	638										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GCGACATCTCCCAAGCCTATC	0.662000														129			32		0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23635600	23635600	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23635600G>A	uc001wiz.3	-	1	1027	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	SLC7A8_uc010akj.3_Missense_Mutation_p.P101S	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	101					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CCAGATTTGGGGATGGTGACC	0.542000														186			87		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175833	140175833	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140175833G>A	uc003lhd.2	+	0	1390	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.R428R|PCDHAC2_uc011czy.2_Silent_p.R428R	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	442	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)			TGACCGCACGGGACGGGGGCT	0.632000														124			70		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15702076	15702076	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:15702076C>T	uc001rcv.2	+	13	2823	c.2353C>T	c.(2353-2355)Cct>Tct	p.P785S	PTPRO_uc001rcw.2_Missense_Mutation_p.P785S|PTPRO_uc001rcx.2_5'UTR|PTPRO_uc001rcy.2_5'UTR|PTPRO_uc001rcz.2_5'UTR|PTPRO_uc001rda.2_5'UTR	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	785	Fibronectin type-III 8.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CAGCCTTCTTCCTGCCACTGC	0.428000														173			80		0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50344655	50344655	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:50344655C>T	uc001rvn.3	+	0	132	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	14					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GGGCTGTGTTCGCAGAGTTCC	0.642000														40			24		0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93065419	93065419	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:93065419C>T	uc003umv.2	-	13	1396	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.E332K|CALCR_uc003umw.2_Missense_Mutation_p.E332K	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	348					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GATTCCGCCTCATGGGTTTCC	0.478000														56			21		0	0	1	0	0
ACTR5	79913	broad.mit.edu	37	20	37400247	37400247	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:37400247C>T	uc002xjd.2	+	8	1637	c.1612C>T	c.(1612-1614)Cgt>Tgt	p.R538C		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA.	538					DNA recombination|UV-damage excision repair|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GTACGGTGCTCGTGACTGGGC	0.507000														73			30		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96081485	96081485	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:96081485C>T	uc011lud.1	+	29	7805	c.7805_splice	c.e29+1		WNK2_uc004atj.3_Intron|WNK2_uc004atk.3_3'UTR|C9orf129_uc010mre.3_Intron	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.						intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CACTTTTGCTCGAAAACAGTG	0.453000														24			12		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482128	37482128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:37482128G>A	uc021ppc.1	+	26	2487	c.2388G>A	c.(2386-2388)atG>atA	p.M796I	ANKRD30A_uc001iza.1_Missense_Mutation_p.M796I	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	852						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCTGCAGAATGAAAGTTTCTA	0.269000														97			44		0	0	1	0	0
NR2F1	7025	broad.mit.edu	37	5	92924027	92924027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:92924027G>A	uc003kkj.3	+	1	2555	c.868G>A	c.(868-870)Gac>Aac	p.D290N	NR2F1_uc021ybj.1_Missense_Mutation_p.D239N|NR2F1_uc021ybk.1_Missense_Mutation_p.D265N	NM_005654	NP_005645	P10589	COT1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA.	290					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CATGTCTGCCGACCGCGTCGT	0.657000														53			14		0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227339	75227339	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:75227339G>A	uc003yae.3	-	1	936	c.896C>T	c.(895-897)tCc>tTc	p.S299F	JPH1_uc003yaf.3_Missense_Mutation_p.S299F|JPH1_uc003yag.1_Missense_Mutation_p.S163F	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	299					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)			CATGCCATTGGAGCGCTCGCT	0.537000														159			26		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34888231	34888231	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:34888231C>T	uc003teh.1	+	7	1109	c.981C>T	c.(979-981)ccC>ccT	p.P327P	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.P327P|NPSR1_uc010kwt.1_Silent_p.P174P|NPSR1_uc010kwu.1_Silent_p.P117P|NPSR1_uc010kwv.1_Silent_p.P261P|NPSR1_uc003tei.1_Silent_p.P327P|NPSR1_uc010kww.1_Silent_p.P316P|NPSR1_uc011kar.1_Silent_p.P261P	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	327						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCATCAACCCCCTCATCTACT	0.502000														152			44		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12704715	12704715	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12704715C>T	uc001auf.3	+	0	150	c.150C>T	c.(148-150)ttC>ttT	p.F50F		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	50						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		ATTGCATATTCCTCTACCTGG	0.507000														174			58		0	0	1	0	0
TAS2R42	353164	broad.mit.edu	37	12	11338854	11338854	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:11338854C>T	uc001qzr.1	-	0	690	c.690G>A	c.(688-690)agG>agA	p.R230R	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	Homo sapiens taste receptor, type 2, member 42 (TAS2R42), mRNA.	230					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			TCATGGCCCTCCTATGGGCCT	0.408000														98			23		0	0	1	0	0
NUP37	79023	broad.mit.edu	37	12	102471194	102471194	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:102471194G>A	uc001tjc.3	-	5	693	c.628C>T	c.(628-630)Cca>Tca	p.P210S	NUP37_uc009zub.1_Missense_Mutation_p.P210S	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN	Homo sapiens nucleoporin 37kDa (NUP37), mRNA.	210					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						GACATTAATGGCACTTGTTCT	0.403000														70			50		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767332	77767332	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:77767332G>A	uc003yau.2	+	9	8562	c.8175G>A	c.(8173-8175)caG>caA	p.Q2725Q	ZFHX4_uc003yaw.1_Silent_p.Q2680Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2680						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)			AAAGCCCACAGAAATACATCT	0.428000										HNSCC(33;0.089)				29			5		0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28537605	28537606	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:28537605_28537606GG>AA	uc002hey.4	-	10	1920_1921	c.1376_1377CC>TT	c.(1375-1377)gcc>gTT	p.A459V	SLC6A4_uc010csg.3_Non-coding_Transcript	NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	459					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCCGGCGCTTGGCCCAGACGTG	0.589000														73			8		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24959159	24959159	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:24959159T>A	uc001isb.2	-	2	718	c.231A>T	c.(229-231)caA>caT	p.Q77H	ARHGAP21_uc009xkl.1_Missense_Mutation_p.Q77H|ARHGAP21_uc001isc.1_Missense_Mutation_p.Q77H|ARHGAP21_uc001isd.1_Missense_Mutation_p.Q77H	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	76	PDZ.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TATATGAAAATTGAATTGCAG	0.398000														49			28		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955839	51955839	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51955839G>A	uc002pwt.3	-	6	1361	c.1294C>T	c.(1294-1296)Ccc>Tcc	p.P432S	SIGLEC8_uc010yda.2_Missense_Mutation_p.P323S|SIGLEC8_uc002pwu.3_Intron|SIGLEC8_uc010eox.2_Missense_Mutation_p.P339S	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	432					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)		ACAGCTGGGGGAGGCTTCTTC	0.592000														42			22		0	0	1	0	0
MRPS24	64951	broad.mit.edu	37	7	43906397	43906397	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:43906397G>A	uc003tit.1	-	3	456	c.405C>T	c.(403-405)ctC>ctT	p.L135L	URGCP_uc022acg.1_3'UTR	NM_032014	NP_114403	Q96EL2	RT24_HUMAN	Homo sapiens mitochondrial ribosomal protein S24 (MRPS24), nuclear gene encoding mitochondrial protein, mRNA.	135					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						TGTAGCCCACGAGGAAGTAGT	0.512000														67			35		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502575	90502575	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90502575G>A	uc004app.4	+	3	3208	c.3173G>A	c.(3172-3174)gGa>gAa	p.G1058E		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1058						integral to membrane											GCAAGTTCGGGAAGTGTTCAG	0.597000														88			16		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183714469	183714469	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:183714469G>A	uc003ivd.1	+	24	6719	c.6644G>A	c.(6643-6645)cGa>cAa	p.R2215Q		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2215					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CTTCTAACTCGAGTTTACAGT	0.483000														51			23		0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89068470	89068470	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:89068470T>G	uc003yeb.4	-	7	1541	c.1259A>C	c.(1258-1260)cAa>cCa	p.Q420P		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	420	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GTAACCAGGTTGAAGAGTTGT	0.363000														67			33		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74018548	74018548	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74018548G>A	uc010wss.1	-	4	780	c.552C>T	c.(550-552)atC>atT	p.I184I	EVPL_uc002jqi.2_Silent_p.I184I|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	184	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	p.N183N(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCTTCTGCAGGATGTTGTGCT	0.682000														29			8		0	0	1	0	0
MSH5	4439	broad.mit.edu	37	6	31728484	31728484	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31728484C>T	uc003nwu.2	+	19	1958	c.1830C>T	c.(1828-1830)ttC>ttT	p.F610F	MSH5_uc003nwx.2_Silent_p.F627F|MSH5_uc003nwv.2_Silent_p.F610F|MSH5_uc003nww.2_Silent_p.F610F|MSH5_uc011dof.1_Silent_p.F309F|MSH5_uc003nwy.1_Silent_p.F284F|SAPCD1_uc003nwz.4_5'UTR	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	610					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						TGATCACATTCATGGCCCTGG	0.557000								Direct reversal of damage;Mismatch excision repair (MMR)						99			44		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509173	228509173	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228509173G>A	uc009xez.1	+	54	14675	c.14631G>A	c.(14629-14631)gtG>gtA	p.V4877V	OBSCN_uc001hsn.3_Silent_p.V4877V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4877	IQ.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCAGCTGTGAAGATCCAGG	0.597000														9			6		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542206	133542206	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:133542206T>A	uc002ttp.3	-	13	2552	c.2178A>T	c.(2176-2178)gcA>gcT	p.A726A	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	726							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TATAGTCTCTTGCAGCAGCTC	0.408000														89			7		0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12483637	12483637	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:12483637G>A	uc001rai.1	-	3	878	c.620C>T	c.(619-621)tCa>tTa	p.S207L	MANSC1_uc010shm.1_Missense_Mutation_p.S141L|MANSC1_uc001raj.1_Missense_Mutation_p.S173L	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	207						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GGAAAATTGTGAACTCTGAGA	0.463000														51			20		0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102250605	102250605	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:102250605G>A	uc001krc.1	-	19	2610	c.2508C>T	c.(2506-2508)acC>acT	p.T836T	SEC31B_uc010qpo.1_Silent_p.T835T|SEC31B_uc001krd.1_Silent_p.T373T|SEC31B_uc001krf.1_Silent_p.T373T|SEC31B_uc001kre.1_Silent_p.T373T	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	836	Pro-rich.				protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ATGACTGAGGGGTGAAAACCC	0.488000														54			10		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26414504	26414504	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:26414504T>A	uc001isn.2	+	18	2441	c.2081T>A	c.(2080-2082)aTt>aAt	p.I694N	MYO3A_uc009xko.1_Missense_Mutation_p.I694N|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	694	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTCAATTGCATTAACAGTTTG	0.348000														139			13		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16001112	16001112	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:16001112C>T	uc010lsu.3	-	7	1106	c.1042G>A	c.(1042-1044)Gga>Aga	p.G348R	MSR1_uc003wwz.3_Missense_Mutation_p.G330R|MSR1_uc003wxa.3_Missense_Mutation_p.G330R|MSR1_uc003wxb.3_Missense_Mutation_p.G330R|MSR1_uc011kxz.2_Missense_Mutation_p.G104R	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	330					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCTTTTGGTCCAGAATTTCCT	0.328000														56			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596678	179596678	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179596678C>T	uc021vsy.1	-	54	13417	c.13192G>A	c.(13192-13194)Gaa>Aaa	p.E4398K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1059K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5325	Ig-like 24.						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)			GGCTTAAATTCCTTGGTAAAA	0.443000														74			10		0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64116835	64116835	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64116835G>A	uc001nzy.3	+	14	2698	c.2649G>A	c.(2647-2649)gaG>gaA	p.E883E	CCDC88B_uc009ypo.2_Silent_p.E880E|CCDC88B_uc001nzz.1_Silent_p.E532E|CCDC88B_uc001oaa.3_Silent_p.E35E	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	883					microtubule cytoskeleton organization	cytoplasm	microtubule binding	p.K882N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCAAGGAGTTGGGGGACC	0.637000														16			7		0	0	1	0	0
C16orf85	400555	broad.mit.edu	37	16	88620309	88620309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:88620309G>A	uc010vox.1	-	1	321	c.321C>T	c.(319-321)gcC>gcT	p.A107A						RecName: Full=Putative uncharacterized protein C16orf85;											kidney(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(80;0.048)		GTTCCTGCAGGGCTGCCGTCT	0.632000														51			6		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160059264	160059264	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:160059264T>A	uc003lym.1	-	12	2339	c.1492A>T	c.(1492-1494)Agc>Tgc	p.S498C	ATP10B_uc003lyn.3_Missense_Mutation_p.S56C	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	498					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(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTTTTGGCTTCTCATAGTT	0.582000														54			7		0	0	1	0	0
KAT8	84148	broad.mit.edu	37	16	31131550	31131550	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31131550C>T	uc002eay.3	+	1	273	c.255C>T	c.(253-255)ggC>ggT	p.G85G	KAT8_uc002eax.3_Silent_p.G85G	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	Homo sapiens K(lysine) acetyltransferase 8 (KAT8), transcript variant 1, mRNA.	85	Chromo.				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										ACCAGGAGGGCCGAGAGGAAT	0.547000														105			41		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451424	38451424	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38451424G>A	uc003jlc.2	+	19	2921	c.2575G>A	c.(2575-2577)Gga>Aga	p.G859R	EGFLAM_uc003jlb.2_Missense_Mutation_p.G851R|EGFLAM_uc003jle.2_Missense_Mutation_p.G617R|EGFLAM_uc003jlf.2_Missense_Mutation_p.G217R|EGFLAM_uc003jlg.2_5'UTR	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	859	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAGGGTGTCAGGATCAAGATC	0.473000														170			46		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113241079	113241079	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:113241079G>A	uc003ynu.3	-	69	11029	c.10870C>T	c.(10870-10872)Cat>Tat	p.H3624Y	CSMD3_uc003yns.3_Missense_Mutation_p.H2826Y|CSMD3_uc003ynt.3_Missense_Mutation_p.H3584Y|CSMD3_uc011lhx.2_Missense_Mutation_p.H3455Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3624						integral to membrane|plasma membrane		p.P3623L(1)		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						TTTGTACCATGAGGTTGATTT	0.279000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				60			29		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106714636	106714636	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106714636C>T	uc021ser.1	-	1006		c.23220G>A								Parts of antibodies, mostly variable regions.																		TACCAAGCCTCCCCCAGACTC	0.567000														105			47		0	0	1	0	0
PLAA	9373	broad.mit.edu	37	9	26928394	26928394	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:26928394G>A	uc003zqd.3	-	2	781	c.356C>T	c.(355-357)tCa>tTa	p.S119L	PLAA_uc003zqe.2_Missense_Mutation_p.S119L	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	Homo sapiens phospholipase A2-activating protein (PLAA), mRNA.	119					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TTTTCCAGATGATAGACTACA	0.358000														48			5		0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505354	159505354	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159505354G>A	uc010piw.2	-	0	444	c.444C>T	c.(442-444)tcC>tcT	p.S148S		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CAATGCCAAAGGACCCACACA	0.502000														72			26		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52425320	52425320	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52425320C>T	uc011bef.2	+	61	10128	c.9867C>T	c.(9865-9867)gcC>gcT	p.A3289A	DNAH1_uc003ddv.3_Silent_p.A147A	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3354	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TAGACCCAGCCCTGGAGCCAG	0.627000														15			6		0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61510285	61510285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:61510285G>A	uc002sbe.3	-	36	5015	c.4993C>T	c.(4993-4995)Cct>Tct	p.P1665S	USP34_uc002sbf.3_5'Flank	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	1665					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTTACCTCAGGAATAAGGAGA	0.343000														69			25		0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34656261	34656261	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34656261G>A	uc001zig.3	-	4	699	c.605C>T	c.(604-606)cCt>cTt	p.P202L	LPCAT4_uc010bav.1_3'UTR	NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.	202					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GGTGCCCTCAGGAAAGAATAG	0.458000														132			51		0	0	1	0	0
CNN3	1266	broad.mit.edu	37	1	95368697	95368697	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:95368697G>A	uc001dqz.4	-	2	512	c.227C>T	c.(226-228)tCc>tTc	p.S76F	CNN3_uc010otv.2_Missense_Mutation_p.S35F|CNN3_uc010otx.2_Missense_Mutation_p.S76F	NM_001839	NP_001830	Q15417	CNN3_HUMAN	Homo sapiens calponin 3, acidic (CNN3), mRNA.	76	CH.				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		GTTCAGTGAGGACTCGTTGAC	0.403000														47			25		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701300	192701300	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:192701300G>A	uc002utb.3	-	1	982	c.627C>T	c.(625-627)ccC>ccT	p.P209P		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	209						caveola|cytosol	phosphatidylserine binding|protein binding	p.P209S(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CCTCATCGTGGGGCAAATCAT	0.522000														101			32		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283061	5283061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:5283061C>T	uc010zqw.2	-	1	788	c.780G>A	c.(778-780)acG>acA	p.T260T	PROKR2_uc010zqx.2_Silent_p.T260T|PROKR2_uc010zqy.2_Silent_p.T260T	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	260						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAATCTGCTCCGTCTGGAACC	0.607000										HNSCC(71;0.22)				55			22		0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10132058	10132058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10132058C>T	uc002mmr.3	+	4	913	c.664C>T	c.(664-666)Cca>Tca	p.P222S		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	222					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCTCTATCTCCCAGCCTCCAG	0.587000														103			33		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904255	73904255	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:73904255C>T	uc011dyh.2	+	14	2321	c.1974C>T	c.(1972-1974)ctC>ctT	p.L658L	KCNQ5_uc011dyi.2_Silent_p.L649L|KCNQ5_uc010kat.3_Silent_p.L630L|KCNQ5_uc003pgk.3_Silent_p.L639L|KCNQ5_uc011dyj.2_Silent_p.L529L|KCNQ5_uc011dyk.2_Silent_p.L389L	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	639					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CCTCAGCCCTCGCTTTGGCTT	0.473000														48			6		0	0	1	0	0
CT47A6	728062	broad.mit.edu	37	X	120094383	120094383	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:120094383C>T	uc004eth.3	-	0	955	c.700G>A	c.(700-702)Gcc>Acc	p.A234T	CT47A6_uc004eti.3_Intron	NM_001080141	NP_775842	Q5JQC4	CT47A_HUMAN	Homo sapiens cancer/testis antigen family 47, member A6 (CT47A6), mRNA.	234										large_intestine(1)|lung(4)	5						TCTTCTGTGGCTGGTTCCTCT	0.687000														2			256		0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13749204	13749204	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:13749204C>T	uc001mld.3	+	10	1514	c.1359C>T	c.(1357-1359)ctC>ctT	p.L453L		NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	Homo sapiens fatty acyl CoA reductase 1 (FAR1), mRNA.	453					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						TGTCTGGCCTCCCTGCAGCCA	0.383000														93			24		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124333366	124333366	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124333366C>T	uc001uft.4	+	32	5710	c.5685C>T	c.(5683-5685)tcC>tcT	p.S1895S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1895	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGTGCTCTCCGTGATCTCCT	0.542000														21			6		0	0	1	0	0
GPN3	51184	broad.mit.edu	37	12	110895368	110895368	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:110895368G>A	uc021rdu.1	-	3	599	c.514C>T	c.(514-516)Cga>Tga	p.R172*	GPN3_uc001tqr.3_Nonsense_Mutation_p.R133*|GPN3_uc001tqs.3_Nonsense_Mutation_p.R143*	NM_001164372	NP_001157844	Q9UHW5	GPN3_HUMAN	Homo sapiens GPN-loop GTPase 3 (GPN3), transcript variant 2, mRNA.	133						protein complex	GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						CCACAGACTCGGAACTCCCAC	0.393000														43			19		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41012157	41012157	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41012157C>T	uc002ony.3	+	12	1766	c.1680C>T	c.(1678-1680)tcC>tcT	p.S560S	SPTBN4_uc002onx.3_Silent_p.S560S|SPTBN4_uc002onz.3_Silent_p.S560S	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	560					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCTGCTGTCCCGGGAGTGTG	0.652000														74			30		0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124731866	124731866	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124731866G>A	uc011bke.2	-	6	2925	c.2857C>T	c.(2857-2859)Ctt>Ttt	p.L953F	HEG1_uc003ehs.4_Missense_Mutation_p.L853F	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	853						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTGGTCATAAGAGGCTGAGAG	0.517000														156			29		0	0	1	0	0
SLC25A10	1468	broad.mit.edu	37	17	79674064	79674064	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:79674064C>T	uc010wut.2	+	3	606	c.474C>T	c.(472-474)ctC>ctT	p.L158L	SLC25A10_uc002kbh.2_Silent_p.L158L	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	GCATCAACCTCGTCCAGGTCT	0.582000														43			20		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57257852	57257852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57257852C>T	uc001cym.4	-	1	1040	c.634G>A	c.(634-636)Gat>Aat	p.D212N	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.D212N	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	212										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AAAGAGGGATCTTCAGAGACG	0.502000														136			57		0	0	1	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17369021	17369021	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:17369021G>A	uc001ipd.3	-	5	627	c.627C>T	c.(625-627)ttC>ttT	p.F209F	ST8SIA6_uc010qce.2_Intron	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (ST8SIA6), mRNA.	209					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ACCTAAAAACGAAGTCGGATT	0.383000														51			30		0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52376092	52376092	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52376092G>A	uc010yde.2	-	6	1542	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Missense_Mutation_p.S325L|ZNF577_uc002pxv.3_Missense_Mutation_p.S377L|ZNF577_uc002pxw.3_Missense_Mutation_p.S318L	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CACCGTCAGTGAATTTATGGC	0.423000														133			39		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40251444	40251444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:40251444G>A	uc003cka.3	+	10	1900	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.E589K|MYRIP_uc010hhw.3_Missense_Mutation_p.E500K|MYRIP_uc011ayz.2_Missense_Mutation_p.E402K|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	589	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CAGGCTGTACGAGTTAGCAAT	0.493000														72			32		0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57272128	57272128	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:57272128C>T	uc003dio.3	+	3	416	c.269C>T	c.(268-270)tCa>tTa	p.S90L	APPL1_uc010hnb.3_Missense_Mutation_p.S90L|APPL1_uc011bey.1_Missense_Mutation_p.S73L	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	90	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CAACAGTTTTCAAAAGTTATA	0.328000														45			19		0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130712923	130712923	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130712923G>A	uc011bli.2	+	20	2436	c.2140G>A	c.(2140-2142)Gat>Aat	p.D714N	ATP2C1_uc011blg.2_Missense_Mutation_p.D714N|ATP2C1_uc011blh.2_Missense_Mutation_p.D675N|ATP2C1_uc003enk.3_Missense_Mutation_p.D664N|ATP2C1_uc003enl.3_Missense_Mutation_p.D680N|ATP2C1_uc003enm.3_Missense_Mutation_p.D680N|ATP2C1_uc003enn.3_Missense_Mutation_p.D664N|ATP2C1_uc003eno.3_Missense_Mutation_p.D680N|ATP2C1_uc003enp.3_Missense_Mutation_p.D680N|ATP2C1_uc003ent.3_Missense_Mutation_p.D680N|ATP2C1_uc003ens.3_Missense_Mutation_p.D680N|ATP2C1_uc003enu.3_Missense_Mutation_p.D358N	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	680					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CCTAGTGGATGATGATTTTCA	0.458000									Hailey-Hailey disease					70			43		0	0	1	0	0
MTA1	9112	broad.mit.edu	37	14	105936526	105936526	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105936526G>A	uc001yqx.3	+	20	2309	c.2122G>A	c.(2122-2124)Gac>Aac	p.D708N	MTA1_uc001yqy.3_3'UTR|MTA1_uc021seq.1_Missense_Mutation_p.D696N|MTA1_uc001yrb.3_Missense_Mutation_p.D473N|CRIP2_uc010tyr.1_5'Flank|CRIP2_uc001yrc.2_5'Flank	NM_004689	NP_004680	Q13330	MTA1_HUMAN	Homo sapiens metastasis associated 1 (MTA1), transcript variant 1, mRNA.	708					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GCCCGTCAACGACGAGCCCAT	0.776000														17			12		0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125396438	125396438	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:125396438G>A	uc001ugs.4	-	1	2338	c.1880C>T	c.(1879-1881)cCc>cTc	p.P627L	UBC_uc001ugr.3_Non-coding_Transcript|UBC_uc001ugt.3_Missense_Mutation_p.P475L|UBC_uc001ugu.1_Missense_Mutation_p.P551L|UBC_uc001ugv.3_Missense_Mutation_p.P95L|UBC_uc021rge.1_Missense_Mutation_p.P627L	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	627	Ubiquitin-like 9.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGTGTCACTGGGCTCCACCTC	0.527000														167			63		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655992	19655992	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19655992C>T	uc002nmw.4	+	7	2741	c.2656C>T	c.(2656-2658)Ccg>Tcg	p.P886S	CILP2_uc002nmv.4_Missense_Mutation_p.P880S	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	880						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCCTGTGTACCCGTGGCGCAG	0.677000														35			19		0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895188	45895188	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45895188G>A	uc002pbn.3	-	7	1842	c.1765C>T	c.(1765-1767)Cca>Tca	p.P589S	PPP1R13L_uc002pbm.3_Missense_Mutation_p.P168S|PPP1R13L_uc002pbo.3_Missense_Mutation_p.P589S	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	589	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GCCGGGGGTGGAATGGGAGCT	0.667000														34			21		0	0	1	0	0
USP45	85015	broad.mit.edu	37	6	99885165	99885165	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:99885165G>A	uc003ppx.2	-	16	2804	c.2271C>T	c.(2269-2271)tcC>tcT	p.S757S	USP45_uc003ppv.2_Non-coding_Transcript|USP45_uc003ppw.2_Silent_p.S437S	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA.	757					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATAATTTCCTGGAGGGTGTTC	0.388000														62			18		0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55523612	55523612	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:55523612C>T	uc002ehz.4	+	6	1367	c.1056C>T	c.(1054-1056)ccC>ccT	p.P352P	MMP2_uc010vhd.2_Silent_p.P276P|MMP2_uc010ccc.3_Silent_p.P302P	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	352	Collagen-binding.|Fibronectin type-II 3.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GTGTCTTCCCCTTCACTTTCC	0.577000														141			60		0	0	1	0	0
IL17REL	400935	broad.mit.edu	37	22	50436142	50436142	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50436142C>T	uc003bje.1	-	11	1081	c.849G>A	c.(847-849)cgG>cgA	p.R283R		NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN	Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA.	283										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CGAAAGGGCACCGCACCCAGG	0.587000														58			15		0	0	1	0	0
TCP10L2	401285	broad.mit.edu	37	6	167591985	167591985	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:167591985G>A	uc010kkp.3	+	4	743	c.612G>A	c.(610-612)agG>agA	p.R204R		NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN	Homo sapiens t-complex 10-like 2 (mouse) (TCP10L2), mRNA.	204										endometrium(1)|kidney(2)|lung(3)	6						CCACTGGAAGGCCGACTCCCG	0.522000														80			18		0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88958337	88958337	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:88958337C>T	uc002fmm.2	-	4	953	c.664G>A	c.(664-666)Gag>Aag	p.E222K	CBFA2T3_uc002fml.2_Missense_Mutation_p.E136K|CBFA2T3_uc010cif.1_Missense_Mutation_p.E161K|CBFA2T3_uc002fmn.2_Missense_Mutation_p.E197K	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	222	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TTGGTGGCCTCCTGAAGCTTG	0.587000			T	RUNX1	AML									30			10		0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101585705	101585705	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:101585705G>T	uc004ayz.3	+	1	539	c.539G>T	c.(538-540)aGa>aTa	p.R180I		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.	180	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R180I(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TACAGTGATAGAGGTGAGTCC	0.537000														54			12		0.00185496	0.00185653	1	1	0
DUSP27	92235	broad.mit.edu	37	1	167097327	167097327	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167097327G>A	uc001geb.1	+	4	2975	c.2959G>A	c.(2959-2961)Gaa>Aaa	p.E987K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	987	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCAGTCAGAGGAACAGGACAC	0.517000														122			8		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39645736	39645736	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39645736G>A	uc003xnj.3	-	8	752	c.677C>T	c.(676-678)tCt>tTt	p.S226F	ADAM2_uc003xnk.3_Missense_Mutation_p.S207F|ADAM2_uc011lck.2_Missense_Mutation_p.S226F|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	226	Peptidase M12B.				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)		CTCCAATGAAGACAGAATAAT	0.259000														66			32		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130187862	130187862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130187862C>T	uc010htj.1	+	37	7508	c.7014C>T	c.(7012-7014)gtC>gtT	p.V2338V	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Silent_p.V377V|COL6A5_uc010htk.1_Silent_p.V377V	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2338	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGGTTGCTGTCCTGAGCTACT	0.428000														30			10		0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73832317	73832317	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73832317G>A	uc002jpp.3	-	15	1790	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	UNC13D_uc010wsk.1_Silent_p.F470F|UNC13D_uc002jpq.1_Silent_p.F120F|UNC13D_uc010dgq.1_Silent_p.F266F	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	470	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTCAGGTGGAACCATTCAG	0.667000									Familial Hemophagocytic Lymphohistiocytosis					11			7		0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42739655	42739655	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42739655G>A	uc003clw.3	-	6	819	c.672C>T	c.(670-672)acC>acT	p.T224T	HHATL_uc003clx.3_Silent_p.T224T	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	224					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		AGCGATCAAAGGTCATGATGG	0.527000														62			33		0	0	1	0	0
ARG2	384	broad.mit.edu	37	14	68117433	68117433	+	Splice_Site	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:68117433G>C	uc001xjs.3	+	8	976	c.860_splice	c.e8-1	p.G287_splice		NM_001172	NP_001163	P78540	ARGI2_HUMAN	Homo sapiens arginase, type II (ARG2), nuclear gene encoding mitochondrial protein, mRNA.	287					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TTCTTCCAGGGTTGCTATCAG	0.488000														64			7		0	0	1	0	0
CKS2	1164	broad.mit.edu	37	9	91931305	91931305	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:91931305T>C	uc004aqh.3	+	2	300	c.205T>C	c.(205-207)Ttt>Ctt	p.F69L	SECISBP2_uc010mqn.1_5'Flank|SECISBP2_uc004aqi.1_5'Flank|SECISBP2_uc010mqo.1_5'Flank|SECISBP2_uc004aqj.1_5'Flank|SECISBP2_uc004aqk.1_5'Flank|SECISBP2_uc011ltk.1_5'Flank|SECISBP2_uc011ltl.1_5'Flank	NM_001827	NP_001818	P33552	CKS2_HUMAN	Homo sapiens CDC28 protein kinase regulatory subunit 2 (CKS2), mRNA.	69					cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization		cyclin-dependent protein kinase regulator activity			kidney(1)|large_intestine(1)	2						TATTCTTCTCTTTAGACGACC	0.289000														17			3		0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7064026	7064026	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7064026G>A	uc001qsb.2	+	3	627	c.385G>A	c.(385-387)Gag>Aag	p.E129K	PTPN6_uc001qsa.1_Missense_Mutation_p.E131K|PTPN6_uc010sfr.1_Missense_Mutation_p.E90K|PTPN6_uc009zfl.1_Missense_Mutation_p.E129K|PTPN6_uc010sfs.1_Missense_Mutation_p.E117K	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	129	SH2 2.				G-protein coupled receptor protein signaling pathway|T cell costimulation|apoptosis|cell junction assembly|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	p.E129K(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GGCCAAGGGCGAGCCCTGGAC	0.637000														64			6		0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207140439	207140439	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207140439C>T	uc001hfa.4	-	2	627	c.127G>A	c.(127-129)Gga>Aga	p.G43R	FCAMR_uc001hfb.3_Missense_Mutation_p.G43R|FCAMR_uc009xca.2_Missense_Mutation_p.G43R|FCAMR_uc021pig.1_5'Flank	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	342						integral to membrane|plasma membrane	receptor activity	p.A42A(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						ATTTTCCATCCCGCCCTCCTG	0.527000														51			5		0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71063012	71063013	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71063012_71063013GG>AA	uc003hfc.3	+	2	132_133	c.115_116GG>AA	c.(115-117)ggt>AAt	p.G39N		NM_017855	NP_060325	A1E959	ODAM_HUMAN	Homo sapiens odontogenic, ameloblast asssociated (ODAM), mRNA.	39					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCTTAATAATGGTCAACTTTTG	0.277000														87			23		0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120103399	120103399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:120103399G>A	uc003yoo.3	+	2	329	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	78	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			AATTAAAGGAGAACTGGGTGA	0.383000														88			9		0	0	1	0	0
WDR69	164781	broad.mit.edu	37	2	228754612	228754612	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228754612G>A	uc002vpn.1	+	2	233	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	WDR69_uc010zlw.1_Missense_Mutation_p.E37K|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	52										breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCAGAAGGCAGAACCTCTACT	0.383000														65			27		0	0	1	0	0
TFE3	7030	broad.mit.edu	37	X	48896732	48896732	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:48896732G>A	uc004dmb.3	-	2	672	c.434C>T	c.(433-435)cCt>cTt	p.P145L	TFE3_uc004dmc.3_Missense_Mutation_p.P40L|TFE3_uc004dme.1_Non-coding_Transcript	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	145					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGCAGGTGCAGGACTGGGGAA	0.682000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""									14			13		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975176	44975176	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:44975176C>T	uc001wvn.3	-	0	1324	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	339	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGAGACTCTTCAGCTGATGGA	0.517000														117			33		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46718188	46718188	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46718188G>A	uc003cqa.2	-	17	2165	c.1972C>T	c.(1972-1974)Ctg>Ttg	p.L658L	ALS2CL_uc003cpx.2_Silent_p.L5L|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Silent_p.L173L|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.L658L	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	658					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGCTCCTCCAGGATGTCTTCC	0.652000														51			26		0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96860798	96860798	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:96860798C>T	uc010mrj.2	+	5	2052	c.1950C>T	c.(1948-1950)gcC>gcT	p.A650A	PTPDC1_uc004auf.2_Silent_p.A596A|PTPDC1_uc004aug.2_Silent_p.A596A|PTPDC1_uc004auh.2_Silent_p.A648A|PTPDC1_uc010mri.2_Silent_p.A648A	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	596							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L649Q(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CGGCCAAAGCCCTAGCAAATT	0.388000														82			43		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101767275	101767275	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:101767275C>T	uc004azb.1	+	8	1502	c.1296C>T	c.(1294-1296)gcC>gcT	p.A432A		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	432	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GTGGTGTGGCCCCCGGGGAGC	0.622000														64			15		0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55714563	55714563	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55714563C>T	uc010spi.2	+	0	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TGTATTTCTTCCTCAGAAATT	0.418000														80			33		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400205	47400205	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47400205G>A	uc001cqp.4	-	6	868	c.817C>T	c.(817-819)Caa>Taa	p.Q273*	CYP4A11_uc001cqq.2_Nonsense_Mutation_p.Q273*|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	273					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TTCTGTAGTTGAGCCTTCCTC	0.532000														93			31		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129284780	129284780	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:129284780G>A	uc003emx.2	-	23	4372	c.4272C>T	c.(4270-4272)atC>atT	p.I1424I	PLXND1_uc011blb.1_Silent_p.I92I|U7_uc021xdx.1_5'Flank	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1424					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGACAAAGACGATGAGGAAGT	0.557000														53			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056563	9056563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9056563G>A	uc002mkp.3	-	2	31087	c.30883C>T	c.(30883-30885)Cca>Tca	p.P10295S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10297	Ser-rich.|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						ATGGCTCGTGGAACTCCAGTG	0.522000														79			21		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703555	60703555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60703555C>T	uc001nqi.3	+	10	2444	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	TMEM132A_uc001nqj.3_Missense_Mutation_p.R750W	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	750	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCCCTGCCGCCGGGGCCGCCA	0.746000														22			4		0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142037485	142037485	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:142037485G>A	uc003eus.3	-	38	4634	c.4567C>T	c.(4567-4569)Cct>Tct	p.P1523S	XRN1_uc010huu.3_Missense_Mutation_p.P990S|XRN1_uc003eut.3_Missense_Mutation_p.P1523S|XRN1_uc003euu.3_Missense_Mutation_p.P1524S	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1523					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ACAGCTGAAGGATAATTTGCA	0.368000														11			5		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7169850	7169850	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7169850C>T	uc001qsj.3	+	5	796	c.77C>T	c.(76-78)cCt>cTt	p.P26L	C1S_uc001qsk.3_Missense_Mutation_p.P26L|C1S_uc001qsl.3_Missense_Mutation_p.P26L|C1S_uc009zfr.3_Intron|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	26	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ATCCTGTCCCCTAACTATCCT	0.473000														83			17		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15734690	15734690	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:15734690G>A	uc001rcv.2	+	22	3680	c.3210G>A	c.(3208-3210)gaG>gaA	p.E1070E	PTPRO_uc001rcw.2_Silent_p.E1042E|PTPRO_uc001rcx.2_Silent_p.E259E|PTPRO_uc001rcy.2_Silent_p.E259E|PTPRO_uc001rcz.2_Silent_p.E231E|PTPRO_uc001rda.2_Silent_p.E231E	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	1070	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGATTTCAGAGGAAGAGCAGG	0.498000														60			28		0	0	1	0	0
DPP7	29952	broad.mit.edu	37	9	140006426	140006426	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140006426G>A	uc004clh.3	-	9	1136	c.1106C>T	c.(1105-1107)cCg>cTg	p.P369L		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA.	369						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GGGCAGGTCCGGGAACATATC	0.667000														40			6		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57180319	57180319	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:57180319C>T	uc003hbk.2	+	7	1042	c.651C>T	c.(649-651)tcC>tcT	p.S217S	KIAA1211_uc010iha.2_Silent_p.S210S|KIAA1211_uc011bzz.1_Silent_p.S127S|KIAA1211_uc003hbm.1_Silent_p.S103S	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	217	Glu-rich.							p.S217F(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGCTGGATTCCGAGGAAGAGA	0.607000														34			10		0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42754805	42754805	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42754805C>T	uc003cly.4	-	13	1806	c.1722G>A	c.(1720-1722)gtG>gtA	p.V574V		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	574										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TGCTCTCCTCCACCCTGGTGA	0.602000														116			11		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78647157	78647157	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:78647157G>A	uc001jxn.3	-	27	3755	c.3578C>T	c.(3577-3579)tCc>tTc	p.S1193F	KCNMA1_uc021ptu.1_Missense_Mutation_p.S1085F|KCNMA1_uc001jxj.2_Missense_Mutation_p.S1139F|KCNMA1_uc001jxk.1_Missense_Mutation_p.S811F|KCNMA1_uc009xrt.1_Missense_Mutation_p.S984F|KCNMA1_uc001jxl.1_Missense_Mutation_p.S818F|KCNMA1_uc001jxo.3_Missense_Mutation_p.S1176F|KCNMA1_uc001jxm.3_Missense_Mutation_p.S1135F|KCNMA1_uc001jxq.3_Missense_Mutation_p.S1165F|BC030624_uc001jxp.3_5'Flank	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1193					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CGACGAGTGGGAGGAATGGGA	0.602000														64			23		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52131192	52131192	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52131192T>A	uc002pxe.3	-	4	1031	c.892A>T	c.(892-894)Atc>Ttc	p.I298F		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	298	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		AGCTCCAAGATCCCGGTATTG	0.597000														103			37		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51758030	51758030	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51758030G>A	uc001ryk.2	-	4	1149	c.924C>T	c.(922-924)ttC>ttT	p.F308F	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Silent_p.F308F	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	308					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CGGGCTTGGCGAACTCAAAAG	0.582000														38			17		0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180432608	180432608	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:180432608C>T	uc003mmr.3	+	7	1321	c.1137C>T	c.(1135-1137)gtC>gtT	p.V379V	BTNL3_uc010jlp.3_Silent_p.V164V	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	379	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGTATTGGGTCCTCAGACTGA	0.502000														57			14		0	0	1	0	0
IL28A	282616	broad.mit.edu	37	19	39759326	39759326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39759326G>A	uc002oku.1	+	1	72	c.20G>A	c.(19-21)gGg>gAg	p.G7E		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	Homo sapiens interleukin 28A (interferon, lambda 2) (IL28A), mRNA.	7					response to virus	extracellular space	cytokine activity			cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GACATGACTGGGGACTGCACG	0.647000														58			5		0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148747925	148747925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:148747925C>T	uc003lqk.2	+	5	1255	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	PCYOX1L_uc003lql.2_Missense_Mutation_p.S381F|PCYOX1L_uc010jgz.2_Missense_Mutation_p.S322F|PCYOX1L_uc003lqm.2_Missense_Mutation_p.S280F|PCYOX1L_uc003lqn.2_Missense_Mutation_p.S308F	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.	398					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	p.S398F(2)		breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGTCCAGTCCCCCAAGCCC	0.597000											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		156			26		0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47200991	47200991	+	Splice_Site	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47200991A>G	uc002pfh.3	-	9	1581	c.1239_splice	c.e9+1	p.L413_splice	PRKD2_uc002pfg.3_Splice_Site_p.L256_splice|PRKD2_uc002pfi.3_Splice_Site_p.L413_splice|PRKD2_uc002pfj.3_Splice_Site_p.L413_splice|PRKD2_uc010xye.2_Splice_Site_p.L413_splice|PRKD2_uc002pfk.3_Splice_Site_p.L256_splice	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	413	PH.				T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		gccACTCACCAGCGTGTCCTT	0.662000														89			37		0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41774231	41774231	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:41774231C>T	uc003ori.3	-	3	713	c.491G>A	c.(490-492)cGg>cAg	p.R164Q		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	164					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGCCTGGCCCCGGGAGCTCTT	0.721000														31			6		0	0	1	0	0
PLA2G2E	30814	broad.mit.edu	37	1	20249114	20249114	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:20249114C>T	uc001bct.1	-	1	233	c.175G>A	c.(175-177)Gac>Aac	p.D59N		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	Homo sapiens phospholipase A2, group IIE (PLA2G2E), mRNA.	59					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCACCAGTCAGTCTGGTCC	0.627000														59			25		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639261	7639261	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7639261C>T	uc001qsz.3	-	9	2420	c.2292G>A	c.(2290-2292)gaG>gaA	p.E764E	CD163_uc001qta.3_Silent_p.E764E|CD163_uc009zfw.2_Silent_p.E797E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	764	SRCR 7.				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						CATTAATGGCCTCTCCACAGC	0.532000														186			60		0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42300634	42300634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42300634C>T	uc002orn.1	+	0	101	c.25C>T	c.(25-27)Cac>Tac	p.H9Y	CEACAM3_uc010eia.1_Missense_Mutation_p.H9Y|CEACAM3_uc002oro.1_Non-coding_Transcript	NM_001815	NP_001806	P40198	CEAM3_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.	9						integral to membrane		p.H9Y(2)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						AGCCTCTCCCCACAGAGAATG	0.602000														43			25		0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	136969778	136969778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:136969778C>T	uc010jek.3	-	11	1842	c.1398G>A	c.(1396-1398)gcG>gcA	p.A466A	KLHL3_uc011cyc.2_Silent_p.A201A|KLHL3_uc003lbr.4_Silent_p.A384A|KLHL3_uc011cyd.2_Intron|KLHL3_uc010jel.1_Silent_p.A201A	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	466						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		ATTCATTGGTCGCTGGGTTGT	0.552000														124			23		0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118314941	118314941	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:118314941C>T	uc001lcm.3	+	7	776	c.733C>T	c.(733-735)Cca>Tca	p.P245S		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	245					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	p.P245A(3)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AGATTTCTTTCCAAATGGAGG	0.388000														117			54		0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39304389	39304389	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:39304389G>A	uc003gty.2	-	16	2451	c.2311C>T	c.(2311-2313)Cgt>Tgt	p.R771C	RFC1_uc003gtx.2_Missense_Mutation_p.R770C	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	771					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTTTGAAAACGAAGATCAAAA	0.318000														59			16		0	0	1	0	0
ZDHHC8P1	150244	broad.mit.edu	37	22	23742538	23742538	+	RNA	SNP	C	T	T	rs743353	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:23742538C>T	uc002zxa.4	-	2		c.598G>A			ZDHHC8P1_uc002zxb.4_Non-coding_Transcript|ZDHHC8P1_uc002zwz.4_Non-coding_Transcript					Homo sapiens zinc finger, DHHC-type containing 8 pseudogene 1 (ZDHHC8P1), non-coding RNA.																		GGCCCACCCTCGGAGCACAGG	0.627000														18			4		0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510452	56510452	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56510452G>A	uc010rjo.2	-	0	836	c.836C>T	c.(835-837)tCc>tTc	p.S279F		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGAGTAGGTGGAACTAGGCCT	0.468000														85			36		0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156619309	156619309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:156619309G>A	uc010lqn.3	-	3	524	c.309C>T	c.(307-309)tcC>tcT	p.S103S	LMBR1_uc003wmw.4_Silent_p.S103S|LMBR1_uc003wmx.4_5'UTR|LMBR1_uc011kvx.2_Silent_p.S82S	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	103						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		CATGAATCAGGGAGCCATTTA	0.323000														8			8		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627270	140627270	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140627270C>T	uc003lje.3	+	0	2124	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	708					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCCTGTTCGTGGCAGTGC	0.677000														265			54		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36330297	36330297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36330297C>T	uc002oby.3	-	21	3107	c.2951G>A	c.(2950-2952)gGg>gAg	p.G984E	NPHS1_uc010eem.1_Non-coding_Transcript	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	984	Fibronectin type-III.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATAGTGGAACCCTGGAGTCCC	0.577000														62			19		0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94878997	94878997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:94878997G>A	uc003klb.3	-	4	422	c.125C>T	c.(124-126)gCc>gTc	p.A42V	TTC37_uc010jbf.2_Intron	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	42							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AAAAACCCAGGCATTATAGTT	0.353000														127			16		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119750854	119750854	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:119750854G>A	uc002tln.1	+	15	1539	c.1407G>A	c.(1405-1407)agG>agA	p.R469R	MARCO_uc010yyf.1_Silent_p.R391R	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	469	SRCR.				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						CCAAAGGAAGGGCCCTGTACA	0.542000														97			27		0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60242139	60242139	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:60242139C>T	uc002lip.4	+	12	2825	c.2825C>T	c.(2824-2826)tCt>tTt	p.S942F	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Missense_Mutation_p.S412F	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	942					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCAGCAACTTCTCCCCAGCCA	0.652000														106			8		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54535276	54535277	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:54535276_54535277CC>TT	uc002iun.1	+	12	1537_1538	c.1502_1503CC>TT	c.(1501-1503)tcc>tTT	p.S501F		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	501										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATACCAATATCCTCATCCTCAT	0.500000														75			35		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044729	56044729	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:56044729G>A	uc003pcs.3	-	2	519	c.287C>T	c.(286-288)tCa>tTa	p.S96L	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.S96L|COL21A1_uc003pcu.1_Missense_Mutation_p.S96L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	96	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATGTTCTCCTGAATCATAGCT	0.448000														36			9		0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143995719	143995719	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:143995719C>A	uc003yxk.1	-	4	918	c.915G>T	c.(913-915)aaG>aaT	p.K305N		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	305					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.I304T(1)|p.I304F(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)	TAGAGTTGGCCTTGATGGCTT	0.587000									Familial Hyperaldosteronism type I					24			17		1.00905e-13	1.01358e-13	1	1	0
VPS8	23355	broad.mit.edu	37	3	184580816	184580816	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:184580816C>T	uc021xik.1	+	14	1444	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	VPS8_uc003fpb.1_Silent_p.F450F|VPS8_uc010hyd.1_Silent_p.F450F	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	452							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GCAGCCATTTCAAATCACTAG	0.408000														121			59		0	0	1	0	0
CD81	975	broad.mit.edu	37	11	2415372	2415372	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:2415372T>G	uc001lwf.1	+	2	462	c.229T>G	c.(229-231)Ttc>Gtc	p.F77V		NM_004356	NP_004347	P60033	CD81_HUMAN	Homo sapiens CD81 molecule (CD81), mRNA.	77					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTTCGTTGGCTTCCTGGGCTG	0.662000														47			18		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125876306	125876306	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:125876306C>T	uc003eim.1	-	3	598	c.408G>A	c.(406-408)tgG>tgA	p.W136*	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.3_5'Flank|ALDH1L1_uc010hsf.1_Nonsense_Mutation_p.W162*|ALDH1L1_uc003eip.1_Nonsense_Mutation_p.W45*|ALDH1L1_uc011bkj.1_5'UTR	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	136	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CATCATCCGCCCAGAAGATGG	0.572000														110			30		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455470	84455470	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:84455470G>A	uc001vlk.3	-	0	1059	c.173C>T	c.(172-174)tCc>tTc	p.S58F		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	58						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTAAAACTGGGAAGTCGGGGC	0.433000														78			17		0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14160012	14160012	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:14160012C>T	uc002mxx.3	+	9	1711	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	430	Fibronectin type-III 3.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						AGATGCCCCTCCAGGGACCCC	0.647000											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			21		0	0	1	0	0
FAM9A	171482	broad.mit.edu	37	X	8763148	8763148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:8763148C>T	uc022bsk.1	-	6	938	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	FAM9A_uc004csg.3_Missense_Mutation_p.E268K	NM_001171186	NP_777611	Q8IZU1	FAM9A_HUMAN	Homo sapiens family with sequence similarity 9, member A (FAM9A), transcript variant 1, mRNA.	268	Glu-rich.					nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				tcttcttcttcttcctcttcc	0.418000														9			11		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90129103	90129103	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90129103C>T	uc002boe.3	+	3	1341	c.1341C>T	c.(1339-1341)tcC>tcT	p.S447S	C15orf42_uc021sug.1_Silent_p.S446S	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	447					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ACACAGCTTCCCTTTTCTCAG	0.478000														140			15		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104081828	104081828	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:104081828G>A	uc003hxb.1	-	20	2330	c.2240C>T	c.(2239-2241)tCa>tTa	p.S747L	CENPE_uc003hxc.1_Missense_Mutation_p.S722L	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	747					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTCAATTCTGAAAGCAAAAT	0.323000														94			13		0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128269	56128269	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56128269C>T	uc010rjh.2	+	0	579	c.547C>T	c.(547-549)Cct>Tct	p.P183S		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGATAATGTTCCTCTGTTAGC	0.338000														54			24		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141108493	141108493	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141108493C>T	uc002tvj.1	-	76	12737	c.11765G>A	c.(11764-11766)aGa>aAa	p.R3922K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3922					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R3922I(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCTGTTATTCTTGAATTATG	0.343000										TSP Lung(27;0.18)				146			15		0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32126220	32126220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32126220C>T	uc001btk.1	-	61	4210	c.3845G>A	c.(3844-3846)gGa>gAa	p.G1282E	COL16A1_uc001btj.1_Missense_Mutation_p.G1080E	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1282	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCCTGGGGTCCCATGGCACC	0.557000														88			25		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75442037	75442037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:75442037G>A	uc001sxg.1	-	3	2220	c.1676C>T	c.(1675-1677)cCc>cTc	p.P559L	KCNC2_uc009zry.3_Missense_Mutation_p.P559L|KCNC2_uc001sxe.3_Missense_Mutation_p.P559L|KCNC2_uc001sxf.3_Intron|KCNC2_uc010stw.1_Intron	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	559					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GCGTCTGATGGGGAGCCTTTC	0.507000														67			49		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018992	161018992	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161018992C>T	uc001fxl.3	-	11	2165	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	ARHGAP30_uc001fxk.3_Missense_Mutation_p.E607K|ARHGAP30_uc001fxm.3_Missense_Mutation_p.E453K|ARHGAP30_uc009wtx.3_Missense_Mutation_p.E280K|ARHGAP30_uc001fxn.1_Missense_Mutation_p.E453K	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	607					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGGAAAACTTCCTCCCCATTT	0.572000														153			68		0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159680709	159680709	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:159680709G>A	uc003lyb.1	-	6	1236	c.984C>T	c.(982-984)ttC>ttT	p.F328F	CCNJL_uc011dee.1_Silent_p.F280F|CCNJL_uc003lyc.1_Non-coding_Transcript	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	328						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGTGGCTGGAACAGCACTT	0.642000														44			16		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2659792	2659792	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2659792G>A	uc009zdy.1	+	3	451	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Intron|CACNA1C_uc001qkj.2_Intron|CACNA1C_uc001qkk.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Intron|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc009zdu.1_Intron|CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc001qkv.1_Intron			Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 14, mRNA.	494					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCCTCTGGAAGAACTGCAAAC	0.577000														19			4		0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205632186	205632186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205632186G>A	uc001hda.1	-	2	1072	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Missense_Mutation_p.R79W|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	245					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AAGCGGGCCCGGCATGGACAG	0.716000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									22			11		0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53911378	53911378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:53911378G>A	uc003dhd.3	-	4	648	c.547C>T	c.(547-549)Cac>Tac	p.H183Y	ACTR8_uc003dhb.3_5'UTR|ACTR8_uc003dhc.3_Missense_Mutation_p.H72Y	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	183					DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	p.I182N(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ATAGGCCAGTGAATATTGTAA	0.423000														61			24		0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118824028	118824028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:118824028C>T	uc003eby.3	-	2	393	c.12G>A	c.(10-12)gtG>gtA	p.V4V	IGSF11_uc003ebz.3_Silent_p.V4V|IGSF11_uc010hqs.3_Silent_p.V4V	NM_152538	NP_689751	Q5DX21	IGS11_HUMAN	Homo sapiens immunoglobulin superfamily, member 11 (IGSF11), transcript variant 1, mRNA.	0					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCAAAAGTTCCACCAGAGACA	0.348000														78			14		0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62398280	62398281	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62398280_62398281GG>AA	uc001nua.3	-	11	1277_1278	c.1244_1245CC>TT	c.(1243-1245)tcc>tTT	p.S415F	GANAB_uc001nub.3_Missense_Mutation_p.S393F|GANAB_uc001nuc.3_Missense_Mutation_p.S296F|GANAB_uc010rma.2_Missense_Mutation_p.S301F|GANAB_uc010rmb.2_Missense_Mutation_p.S279F	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	393					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GGTAGCCGAGGGAGAAGAGTGG	0.579000														22			7		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81719638	81719638	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81719638C>T	uc001szo.2	-	21	2721	c.2560G>A	c.(2560-2562)Gag>Aag	p.E854K	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E780K|PPFIA2_uc021rbh.1_Missense_Mutation_p.E755K|PPFIA2_uc021rbi.1_Missense_Mutation_p.E854K|PPFIA2_uc021rbj.1_Missense_Mutation_p.E854K|PPFIA2_uc021rbk.1_Missense_Mutation_p.E836K|PPFIA2_uc021rbl.1_Missense_Mutation_p.E854K|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.E421K|PPFIA2_uc021rbf.1_Missense_Mutation_p.E71K	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	780										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCTTCAGTCTCCATAAAGCCT	0.423000														36			9		0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144128271	144128271	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:144128271G>A	uc010khi.3	+	12	2121	c.1922_splice	c.e12+1	p.R641_splice	PHACTR2_uc003qjq.4_Splice_Site_p.R630_splice|PHACTR2_uc010khh.3_Splice_Site_p.R550_splice|PHACTR2_uc003qjr.4_Splice_Site_p.R561_splice	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	630							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AGTTTACAAGGTAGGTGACAA	0.313000														27			28		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435691	158435691	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158435691C>T	uc010pij.2	+	0	340	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCACTCCTTCCTGCTGGCAGC	0.527000														176			38		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400019	89400019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89400019G>A	uc010upo.1	+	11	4577	c.4203G>A	c.(4201-4203)gaG>gaA	p.E1401E	ACAN_uc010upp.1_Silent_p.E1401E|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1401					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)			AAGTTCTAGAGACTACTGCCC	0.542000														165			104		0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48477508	48477508	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48477508G>A	uc001rqx.3	-	5	864	c.418C>T	c.(418-420)Cac>Tac	p.H140Y	SENP1_uc001rqw.3_Missense_Mutation_p.H140Y|SENP1_uc001rqy.3_5'UTR|SENP1_uc001rqz.3_5'UTR|SENP1_uc009zkx.3_Missense_Mutation_p.H140Y	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	140	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	SUMO-specific protease activity|endopeptidase activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				ACATGGCAGTGATGGTTTGAC	0.358000														70			32		0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945434	119945434	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:119945434G>A	uc003yon.4	-	1	459	c.136C>T	c.(136-138)Cct>Tct	p.P46S	TNFRSF11B_uc010mdc.1_Non-coding_Transcript	NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	46					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TAGGTACCAGGAGGACATTTG	0.498000														235			57		0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34528852	34528852	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34528852G>A	uc002xek.1	+	16	2890	c.2779G>A	c.(2779-2781)Ggt>Agt	p.G927S		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	927					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GCTGGACAGAGGTGGAGAGGG	0.532000														89			41		0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79939559	79939559	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:79939559G>A	uc004edt.3	-	36	4446	c.4183C>T	c.(4183-4185)Cgc>Tgc	p.R1395C	BRWD3_uc010nmi.2_Intron|BRWD3_uc004edp.3_Missense_Mutation_p.R1224C|BRWD3_uc004edq.3_Missense_Mutation_p.R991C|BRWD3_uc010nmj.2_Missense_Mutation_p.R991C|BRWD3_uc004edr.3_Missense_Mutation_p.R1065C|BRWD3_uc004eds.3_Missense_Mutation_p.R991C|BRWD3_uc004edo.3_Missense_Mutation_p.R991C|BRWD3_uc004edu.3_Missense_Mutation_p.R1065C|BRWD3_uc004edv.3_Missense_Mutation_p.R991C|BRWD3_uc004edw.3_Missense_Mutation_p.R991C|BRWD3_uc004edx.3_Missense_Mutation_p.R991C|BRWD3_uc004edy.3_Missense_Mutation_p.R991C|BRWD3_uc004edz.3_Missense_Mutation_p.R1065C|BRWD3_uc004eea.3_Missense_Mutation_p.R1065C|BRWD3_uc004eeb.3_Missense_Mutation_p.R991C	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1395	Bromo 2.									breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AATATTTGGCGAACATCCTTA	0.348000														42			11		0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72316862	72316862	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:72316862C>T	uc001swu.3	+	17	2029	c.1954C>T	c.(1954-1956)Cct>Tct	p.P652S	TBC1D15_uc001sww.3_Missense_Mutation_p.P406S|TBC1D15_uc010stt.2_Missense_Mutation_p.P643S|TBC1D15_uc001swv.3_Missense_Mutation_p.P635S	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	Homo sapiens TBC1 domain family, member 15 (TBC1D15), transcript variant 1, mRNA.	652							Rab GTPase activator activity|protein binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGTCATGACTCCTTGTCCTAC	0.473000														121			49		0	0	1	0	0
FBXL21	26223	broad.mit.edu	37	5	135277309	135277309	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:135277309C>T	uc021ydv.1	+	7		c.1736C>T			FBXL21_uc003lbc.3_Intron|FBXL21_uc021ydx.1_Non-coding_Transcript	NM_012159		Q9UKT6	FXL21_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA.						rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			large_intestine(5)|lung(4)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACACTGAAGTCTCCAAATACC	0.403000														35			10		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603157	111603157	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:111603157G>A	uc010hqa.3	+	1	644	c.233G>A	c.(232-234)aGt>aAt	p.S78N	PHLDB2_uc003dyc.3_Missense_Mutation_p.S105N|PHLDB2_uc003dyd.3_Missense_Mutation_p.S78N|PHLDB2_uc003dyg.3_Missense_Mutation_p.S78N|PHLDB2_uc003dyh.3_Missense_Mutation_p.S78N|PHLDB2_uc003dye.4_Missense_Mutation_p.S78N|PHLDB2_uc003dyf.4_Missense_Mutation_p.S78N	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	78						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TTGGGAACCAGTGTCAGAAGC	0.453000														258			24		0	0	1	0	0
RSBN1L	222194	broad.mit.edu	37	7	77402549	77402549	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:77402549C>T	uc010ldt.1	+	5	1755	c.1711C>T	c.(1711-1713)Cat>Tat	p.H571Y		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	571						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GACAAGAGCTCATGCAGATCA	0.423000														66			28		0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104136527	104136527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104136527C>T	uc001kux.2	+	31	4549	c.4255C>T	c.(4255-4257)Cgg>Tgg	p.R1419W	GBF1_uc001kuy.2_Missense_Mutation_p.R1419W|GBF1_uc001kuz.2_Missense_Mutation_p.R1420W	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1419					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAAGACTCTCCGGATCTTTGT	0.552000														70			19		0	0	1	0	0
RCC1	1104	broad.mit.edu	37	1	28861653	28861654	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:28861653_28861654CC>TT	uc001bqb.2	+	7	932_933	c.533_534CC>TT	c.(532-534)gcc>gTT	p.A178V	RCC1_uc001bqa.2_Missense_Mutation_p.A178V|RCC1_uc001bqc.2_Missense_Mutation_p.A178V|RCC1_uc001bqe.2_Missense_Mutation_p.A195V|RCC1_uc001bqf.2_Missense_Mutation_p.A209V|RCC1_uc001bqg.2_Missense_Mutation_p.A178V	NM_001269	NP_001260	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA.	178					G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GTAAAGGTGGCCTCAGGTGGGT	0.579000														73			17		0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19470440	19470440	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:19470440G>A	uc002gvx.3	+	13	1294	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	SLC47A1_uc002gvy.1_Missense_Mutation_p.G403E|SLC47A1_uc010vyz.1_Missense_Mutation_p.G380E|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.G208E|SLC47A1_uc010vza.1_Missense_Mutation_p.G115E|SLC47A1_uc010vzb.1_Missense_Mutation_p.G137E|SLC47A1_uc010vzc.1_Missense_Mutation_p.G75E	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	403						integral to membrane|plasma membrane	drug:hydrogen antiporter activity	p.S402G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					AGGGGGAGTGGAAATCAGAAG	0.542000														83			65		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136596793	136596793	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:136596793G>A	uc003qgx.1	-	5	1982	c.1729C>T	c.(1729-1731)Cat>Tat	p.H577Y	BCLAF1_uc003qgy.1_Missense_Mutation_p.H575Y|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.H575Y|BCLAF1_uc003qgw.1_Missense_Mutation_p.H404Y	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	577					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGACAGAATGGACAAGTGTA	0.398000														189			17		0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3655674	3655674	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3655674C>T	uc002wit.3	-	4	420	c.333_splice	c.e4+1	p.T111_splice	ADAM33_uc002wir.1_Splice_Site_p.T111_splice|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Splice_Site_p.T111_splice|ADAM33_uc002wiw.1_Non-coding_Transcript|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Silent_p.T110T|ADAM33_uc010zqg.1_Silent_p.T110T|ADAM33_uc010zqh.1_Splice_Site_p.T111_splice	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	111					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						AGCATCTCACCGTGTGGTTGG	0.622000														34			6		0	0	1	0	0
C1QC	714	broad.mit.edu	37	1	22974025	22974025	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22974025C>T	uc001bgc.4	+	2	590	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S	C1QC_uc001bga.4_Missense_Mutation_p.P163S	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	163	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)	CTGCAAAGTCCCCGGCCTCTA	0.592000														46			14		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77691837	77691837	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77691837G>A	uc011cbx.2	+	9	6361	c.5408G>A	c.(5407-5409)aGc>aAc	p.S1803N	SHROOM3_uc003hkg.3_Missense_Mutation_p.S1581N	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1803	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCGAAGGGGAGCCTGCTCACG	0.547000														88			26		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186669961	186669961	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:186669961G>A	uc002upl.3	+	16	16195	c.16195G>A	c.(16195-16197)Ggc>Agc	p.G5399S	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGATATTATGGGCTTGGCTCT	0.308000														133			58		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44560392	44560392	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44560392C>T	uc003tlb.3	-	13	3164	c.3108G>A	c.(3106-3108)gtG>gtA	p.V1036V	NPC1L1_uc011kbw.2_Silent_p.V990V|NPC1L1_uc003tlc.3_Silent_p.V1036V|NPC1L1_uc003tla.3_Silent_p.V39V	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1036					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)	AAGTCAAGTTCACAGAGGTGC	0.577000														88			24		0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54420804	54420804	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:54420804G>A	uc003jpo.2	-	8	1219	c.1042C>T	c.(1042-1044)Cat>Tat	p.H348Y	CDC20B_uc003jpn.2_Missense_Mutation_p.H348Y|CDC20B_uc010ivu.2_Missense_Mutation_p.H348Y|CDC20B_uc010ivv.2_3'UTR	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	348										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GTTCCAACATGATGCTGGGCT	0.498000														75			35		0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172644360	172644360	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:172644360G>A	uc002uhh.2	-	15	1772	c.1683C>T	c.(1681-1683)atC>atT	p.I561I	SLC25A12_uc010fqh.2_Silent_p.I454I	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	561					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TGAAACAGTCGATGACACCAC	0.577000														58			25		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118165285	118165285	+	Missense_Mutation	SNP	C	T	T	rs148780595		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:118165285C>T	uc003yoh.3	+	2	604	c.374C>T	c.(373-375)tCg>tTg	p.S125L	SLC30A8_uc010mcz.3_Missense_Mutation_p.S76L|SLC30A8_uc003yog.3_Missense_Mutation_p.S76L|SLC30A8_uc011lia.2_Missense_Mutation_p.S76L|SLC30A8_uc022bab.1_Missense_Mutation_p.S76L	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	125					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.S125*(4)		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)			TGGTTGTCATCGAAGCCTCCC	0.527000														36			15		0	0	1	0	0
ZCCHC24	219654	broad.mit.edu	37	10	81192318	81192318	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81192318G>A	uc001kak.3	-	1	630	c.443C>T	c.(442-444)cCc>cTc	p.P148L	ZCCHC24_uc010qlr.2_Silent_p.P88P|ZCCHC24_uc009xrw.3_Non-coding_Transcript	NM_153367	NP_699198	Q8N2G6	ZCH24_HUMAN	Homo sapiens zinc finger, CCHC domain containing 24 (ZCCHC24), mRNA.	148							nucleic acid binding|zinc ion binding	p.C147Y(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						CCTTACCTGGGGGCAGTCCTT	0.652000														37			15		0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26586715	26586715	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:26586715T>A	uc001mqw.3	-	2	1045	c.772A>T	c.(772-774)Aaa>Taa	p.K258*	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Nonsense_Mutation_p.K231*|MUC15_uc001mqy.3_Nonsense_Mutation_p.K258*	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	231						extracellular region|integral to membrane|plasma membrane		p.Y258Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TATTTACCTTTTTGGGGATCT	0.338000														105			23		0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135919191	135919191	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135919191C>T	uc004ccj.4	+	2	787	c.450C>T	c.(448-450)ctC>ctT	p.L150L	GTF3C5_uc010mzz.2_Silent_p.L25L|GTF3C5_uc004cci.4_Silent_p.L150L	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	150						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		ACAAGGTGCTCATGCTCCGGC	0.582000														114			14		0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39721990	39721990	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:39721990G>A	uc001wux.3	+	4	1800	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K		NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	145						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GAGAATTCACGAAGAAGTATA	0.378000														89			27		0	0	1	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67220438	67220438	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:67220438G>A	uc001dcv.3	+	1	228	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	TCTEX1D1_uc009wau.3_Non-coding_Transcript|TCTEX1D1_uc009wav.3_Non-coding_Transcript	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN	Homo sapiens Tctex1 domain containing 1 (TCTEX1D1), mRNA.	33								p.E33K(2)		large_intestine(2)|lung(10)|skin(1)	13						TTGGCGAAAGGAAATTCATGG	0.338000														40			11		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400212	47400212	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47400212C>T	uc001cqp.4	-	6	861	c.810G>A	c.(808-810)agG>agA	p.R270R	CYP4A11_uc001cqq.2_Silent_p.R270R|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	270					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GTTGAGCCTTCCTCAGTTGGA	0.532000														89			29		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805618	54805618	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:54805618C>T	uc003pck.3	+	4	1965	c.1849C>T	c.(1849-1851)Cct>Tct	p.P617S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	617										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTTGCAGGTTCCTGAAAACCA	0.413000														69			20		0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118514600	118514600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118514600C>T	uc001ptr.2	+	14	3313	c.2960C>T	c.(2959-2961)tCt>tTt	p.S987F	PHLDB1_uc001pts.3_Missense_Mutation_p.S987F|PHLDB1_uc001ptt.3_Missense_Mutation_p.S940F|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Missense_Mutation_p.S787F|PHLDB1_uc001ptw.2_Missense_Mutation_p.S342F|PHLDB1_uc009zai.2_Missense_Mutation_p.S23F|PHLDB1_uc001ptx.2_Missense_Mutation_p.S23F|PHLDB1_uc010ryi.1_Missense_Mutation_p.S130F|PHLDB1_uc010ryj.1_Missense_Mutation_p.S125F	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	987										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		tcctctggctcttcctcctcc	0.652000														43			29		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7683931	7683931	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:7683931C>T	uc021pmv.1	-	2	364	c.258G>A	c.(256-258)caG>caA	p.Q86Q	ITIH5_uc001ijr.2_Silent_p.Q86Q	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	86	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GAATCTGCATCTGGAACTCAA	0.483000														84			45		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540430	55540430	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55540430G>A	uc003xsd.1	+	3	4136	c.3988G>A	c.(3988-3990)Gat>Aat	p.D1330N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1330					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGCCCAATTGATGAGACCTA	0.393000														132			34		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33412082	33412082	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:33412082G>A	uc021vft.1	+	5	1384	c.1361G>A	c.(1360-1362)gGg>gAg	p.G454E	LTBP1_uc002rou.3_Missense_Mutation_p.G128E|LTBP1_uc002rov.3_Missense_Mutation_p.G128E|LTBP1_uc010ymz.2_Missense_Mutation_p.G128E|LTBP1_uc010yna.2_Missense_Mutation_p.G128E	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	454					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGGCGTTGGGGACGCATGTC	0.507000														52			15		0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61988009	61988009	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:61988009C>T	uc001vid.4	-	1	587	c.223G>A	c.(223-225)Gga>Aga	p.G75R	PCDH20_uc010thj.2_Missense_Mutation_p.G75R	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	48	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		GCGGGTAGTCCCTCGTTTAGG	0.652000														20			4		0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27151776	27151776	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:27151776G>A	uc003xfl.1	-	2	665	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	TRIM35_uc010lup.1_Missense_Mutation_p.R163C|TRIM35_uc003xfm.1_Non-coding_Transcript	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA.	195					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	p.R195C(2)		breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		AAGAACTCGCGAAGCTTATCA	0.577000														58			14		0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160719701	160719701	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160719701G>A	uc001fwq.3	+	2	482	c.467G>A	c.(466-468)gGg>gAg	p.G156E	SLAMF7_uc010pjn.2_Missense_Mutation_p.G49E|SLAMF7_uc001fws.3_Missense_Mutation_p.G49E|SLAMF7_uc001fwr.3_Missense_Mutation_p.G156E|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Missense_Mutation_p.G49E|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Missense_Mutation_p.G49E	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	156	Ig-like C2-type.				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGGAACATGGGGAAGAGGAT	0.522000														108			41		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43327114	43327114	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43327114G>A	uc002yzw.3	-	9	1547	c.1305C>T	c.(1303-1305)tcC>tcT	p.S435S	C2CD2_uc002yzt.3_Silent_p.S51S|C2CD2_uc002yzu.3_Silent_p.S267S|C2CD2_uc002yzv.3_Silent_p.S280S|C2CD2_uc002yzx.1_Silent_p.S280S	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	435						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						AGCTCAGCGGGGACGCCCTCC	0.582000														59			10		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857667	90857667	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:90857667C>T	uc003hst.3	+	5	2907	c.2836C>T	c.(2836-2838)Cct>Tct	p.P946S	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.P688S	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	946					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGCTACCATCCCTAAGTGGAT	0.363000														60			21		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181680128	181680128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181680128G>A	uc009wxt.3	+	7	1289	c.1094G>A	c.(1093-1095)aGg>aAg	p.R365K	CACNA1E_uc001gow.3_Missense_Mutation_p.R365K|CACNA1E_uc009wxs.3_Missense_Mutation_p.R365K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	365					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R364R(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						GAGAACCGAAGGGCTTTCATG	0.547000														91			28		0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125621339	125621339	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:125621339C>T	uc001uhc.3	+	16	2016	c.1810C>T	c.(1810-1812)Cgt>Tgt	p.R604C	AACS_uc001uhd.3_Intron|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_Missense_Mutation_p.R202C	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	604					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TAAGAGGATCCGTGACGCCAT	0.607000														72			16		0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163122409	163122409	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:163122409G>A	uc001gcn.3	-	3	653	c.315C>T	c.(313-315)tcC>tcT	p.S105S	RGS5_uc021pdu.1_5'UTR|RGS5_uc021pdt.1_Silent_p.S105S|RGS5_uc009wvb.3_5'UTR	NM_003617	NP_003608	O15539	RGS5_HUMAN	Homo sapiens regulator of G-protein signaling 5 (RGS5), transcript variant 1, mRNA.	105	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.S105S(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			TCTTGGCAGGGGACTTGATCT	0.448000														272			72		0	0	1	0	0
CTAG2	30848	broad.mit.edu	37	X	153880896	153880896	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:153880896C>T	uc004fmi.2	-	1	343	c.279G>A	c.(277-279)acG>acA	p.T93T	CTAG2_uc004fmh.2_Silent_p.T93T	NM_020994	NP_066274	O75638	CTAG2_HUMAN	Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.	93						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGAAAGGCATCGTGATGTGCC	0.642000														19			23		0	0	1	0	0
MAPK14	1432	broad.mit.edu	37	6	36040749	36040749	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:36040749C>T	uc003olq.3	+	3	886	c.405C>T	c.(403-405)ctC>ctT	p.L135L	MAPK14_uc011dth.2_Silent_p.L135L|MAPK14_uc003olo.3_Silent_p.L135L|MAPK14_uc003olp.3_Silent_p.L135L|MAPK14_uc003olr.3_Silent_p.L135L|MAPK14_uc011dti.2_Silent_p.L58L	NM_139012	NP_620581	Q16539	MK14_HUMAN	Homo sapiens mitogen-activated protein kinase 14 (MAPK14), transcript variant 2, mRNA.	135	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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|MAP kinase activity|MAP kinase kinase activity|protein binding	p.L135I(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						ACCAAATTCTCCGAGGTCTAA	0.378000														40			15		0	0	1	0	0
TXNRD2	10587	broad.mit.edu	37	22	19865928	19865928	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:19865928G>A	uc021wlj.1	-	14	1341	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Silent_p.F435F|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqq.1_Silent_p.F86F	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	436					cell redox homeostasis|response to oxygen radical	mitochondrion	NADP binding|flavin adenine dinucleotide binding|thioredoxin-disulfide reductase activity	p.E435*(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CAGCCACCGTGAACTCCAGTG	0.562000														170			78		0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32445998	32445998	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:32445998G>A	uc003amc.3	+	1	454	c.204G>A	c.(202-204)tgG>tgA	p.W68*		NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	68					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TGGTGTGGTGGCCGGTAAGTT	0.453000														165			106		0	0	1	0	0
TRAF7	84231	broad.mit.edu	37	16	2222201	2222201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2222201C>T	uc002cow.3	+	7	584	c.485C>T	c.(484-486)cCc>cTc	p.P162L		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA.	162					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						GAGAAGTGTCCCGTGGACAAC	0.652000														22			5		0	0	1	0	0
MARC1	64757	broad.mit.edu	37	1	220971262	220971262	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:220971262C>T	uc001hmt.3	+	3	907	c.659C>T	c.(658-660)tCg>tTg	p.S220L	MARC1_uc001hms.3_Missense_Mutation_p.S220L	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA.	220	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	p.S220W(1)									TCTGAGGCGTCGCTGGCGGAT	0.438000														138			14		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43411806	43411806	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43411806C>T	uc002ovj.1	-	3	1006	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.E143K|PSG4_uc002ovg.1_Missense_Mutation_p.E303K	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	304	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGTCCTGTTTCATTTCTCGTG	0.493000														248			105		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542542	133542542	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:133542542C>T	uc002ttp.3	-	13	2216	c.1842G>A	c.(1840-1842)gtG>gtA	p.V614V	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	614							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCAGGTTCTCCACGGACTTAT	0.483000														44			19		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156955916	156955916	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156955916G>T	uc001fqo.3	-	1	1122	c.82C>A	c.(82-84)Cct>Act	p.P28T	ARHGEF11_uc001fqn.3_Missense_Mutation_p.P28T	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	28					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGTGGGAAGGGGACTTGCGC	0.532000														83			32		3.03874e-20	3.05531e-20	1	1	0
LMX1A	4009	broad.mit.edu	37	1	165175145	165175145	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:165175145C>T	uc001gcz.2	-	7	1138	c.944G>A	c.(943-945)gGt>gAt	p.G315D	LMX1A_uc021pdz.1_Missense_Mutation_p.G315D|LMX1A_uc021pdy.1_Missense_Mutation_p.G66D|LMX1A_uc001gcw.2_Missense_Mutation_p.G33D	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	315						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TGGGGTGAGACCCTGTCGGAA	0.577000														57			28		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126328133	126328133	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126328133G>A	uc003ifj.4	+	2	5406	c.5406G>A	c.(5404-5406)ttG>ttA	p.L1802L	FAT4_uc011cgp.2_Silent_p.L100L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1802	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R1801Q(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGGCGGTTGGACAGGGAAC	0.468000														131			56		0	0	1	0	0
KLK2	3817	broad.mit.edu	37	19	51378008	51378008	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51378008G>A	uc002ptv.3	+	1	119	c.78G>A	c.(76-78)gtG>gtA	p.V26V	KLK2_uc010eog.3_Intron|KLK2_uc010yck.2_Silent_p.V26V|KLK2_uc002ptt.3_Non-coding_Transcript|KLK2_uc010ycl.2_5'UTR|KLK2_uc010ycm.2_Intron|KLK2_uc002ptu.3_Silent_p.V26V	NM_005551	NP_005542	P20151	KLK2_HUMAN	Homo sapiens kallikrein-related peptidase 2 (KLK2), transcript variant 1, mRNA.	26	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CTCGGATTGTGGGAGGCTGGG	0.622000			T	ETV4	prostate									55			13		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371800	126371800	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126371800G>A	uc003ifj.4	+	8	9629	c.9629G>A	c.(9628-9630)gGa>gAa	p.G3210E	FAT4_uc011cgp.2_Missense_Mutation_p.G1508E|FAT4_uc003ifi.1_Missense_Mutation_p.G688E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3210	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCCCAAGTGGAACAACAGTT	0.408000														89			44		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6697782	6697782	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6697782C>T	uc002mfm.3	-	19	2526	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	822					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACTGTGACCTCGAAGGGGTCT	0.562000														40			5		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228474494	228474494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228474494C>T	uc009xez.1	+	34	9342	c.9298C>T	c.(9298-9300)Cgg>Tgg	p.R3100W	OBSCN_uc001hsn.3_Missense_Mutation_p.R3100W|OBSCN_uc001hsq.1_Missense_Mutation_p.R356W	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3100	Ig-like 31.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGTCTTCTCCCGGGAGCTCAC	0.612000														42			20		0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45554637	45554637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:45554637C>T	uc003cop.1	+	15	1956	c.1771C>T	c.(1771-1773)Cat>Tat	p.H591Y	LARS2_uc010hit.1_Missense_Mutation_p.H548Y	NM_015340	NP_056155	Q15031	SYLM_HUMAN	Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA.	591					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	GGAGCCTTTTCATAAGCTGCT	0.512000														154			15		0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161524820	161524820	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:161524820G>A	uc010jjc.3	+	3	862	c.504G>A	c.(502-504)agG>agA	p.R168R	GABRG2_uc003lyy.4_Silent_p.R168R|GABRG2_uc003lyz.4_Silent_p.R168R|GABRG2_uc011dej.2_Silent_p.R73R	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	168					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			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)		CCCCCAACAGGATGCTGAGAA	0.418000														85			34		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69816910	69816910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69816910G>A	uc003hef.2	-	0	600	c.569C>T	c.(568-570)tCc>tTc	p.S190F	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	190						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGTACATAGGAAAGTGGAGC	0.438000														48			21		0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111866190	111866190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:111866190G>A	uc001pml.3	+	16	1885	c.1588G>A	c.(1588-1590)Gat>Aat	p.D530N	DIXDC1_uc001pmm.3_Missense_Mutation_p.D319N|DIXDC1_uc001pmn.3_Missense_Mutation_p.D237N|DIXDC1_uc010rwq.2_Missense_Mutation_p.D196N	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1, mRNA.	531					Wnt receptor signaling pathway|multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CAGTGGCCACGATCCTCAGCA	0.542000														66			28		0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2217047	2217047	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:2217047C>T	uc002lvc.1	+	6	1151	c.384C>T	c.(382-384)tcC>tcT	p.S128S	DOT1L_uc002lvb.4_Silent_p.S834S|AX746733_uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Silent_p.S128S	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	834						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)		GGCCCCTGTCCCCTGGGGCCT	0.677000														42			16		0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18234369	18234369	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:18234369C>T	uc001rdq.3	-	5	568	c.374G>A	c.(373-375)cGa>cAa	p.R125Q		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	125	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						ACAAAGATCTCGTTTGTTGCC	0.408000														83			35		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896999	175896999	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:175896999G>A	uc003iuc.3	+	4	993	c.323G>A	c.(322-324)gGg>gAg	p.G108E	ADAM29_uc003iud.3_Missense_Mutation_p.G108E|ADAM29_uc010irr.3_Missense_Mutation_p.G108E|ADAM29_uc011cki.2_Missense_Mutation_p.G108E|ADAM29_uc021xuo.1_Missense_Mutation_p.G108E	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	108					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TATGTGGAAGGGGACCCAGAA	0.453000														61			12		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86697752	86697752	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:86697752C>T	uc002blz.1	+	2	296	c.216C>T	c.(214-216)ctC>ctT	p.L72L		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	72					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						GCCAGAATCTCCTCCACTGTC	0.507000														22			20		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908686	103908686	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:103908686C>T	uc001phr.2	+	0	1379	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	379					proteolysis		aspartic-type endopeptidase activity	p.E378D(1)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CAAGATGAGTCTTCGGACAAG	0.463000														57			16		0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761311	55761311	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55761311G>A	uc010riv.2	-	0	791	c.791C>T	c.(790-792)tCc>tTc	p.S264F		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S263R(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGAGTAGCTGGAACTAGGTCT	0.498000														81			32		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35778739	35778739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:35778739G>A	uc011axy.2	+	13	1639	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	ARPP21_uc003cga.3_Missense_Mutation_p.R456Q|ARPP21_uc003cgb.3_Missense_Mutation_p.R510Q|ARPP21_uc003cgf.3_Missense_Mutation_p.R311Q|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	510						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAGCCCCTGCGAAGCGCCATG	0.612000														70			68		0	0	1	0	0
MMP11	4320	broad.mit.edu	37	22	24121450	24121450	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:24121450C>T	uc002zxx.3	+	1	207	c.185C>T	c.(184-186)gCc>gTc	p.A62V	MMP11_uc002zxy.3_Non-coding_Transcript	NM_005940	NP_005931	P24347	MMP11_HUMAN	Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA.	62					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				CCGGCACCTGCCCCTGCCACG	0.711000														15			11		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20658726	20658726	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:20658726C>T	uc001mqd.3	+	11	2019	c.1746C>T	c.(1744-1746)acC>acT	p.T582T	SLC6A5_uc009yic.3_Silent_p.T347T	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	582				T -> S (in Ref. 2; AAD27892).	synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGTTTGCCACCATCGAGACCA	0.493000														125			33		0	0	1	0	0
EIF4E1B	253314	broad.mit.edu	37	5	176072431	176072431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176072431G>A	uc010jkf.1	+	7	1112	c.528G>A	c.(526-528)ggG>ggA	p.G176G	TSPAN17_uc003mes.3_5'Flank|TSPAN17_uc003met.3_5'Flank|TSPAN17_uc003meu.3_5'Flank|TSPAN17_uc003mew.3_5'Flank	NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E family member 1B (EIF4E1B), mRNA.	176					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGTATGTGGGGCCGTCGTCA	0.617000														40			14		0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144875014	144875014	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144875014G>A	uc003yzp.1	-	29	4048	c.4041C>T	c.(4039-4041)gcC>gcT	p.A1347A	SCRIB_uc003yzn.1_Silent_p.A56A|SCRIB_uc003yzo.1_Silent_p.A1347A	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	1347	Pro-rich.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTCCGGGGAGGCTGCAGGCC	0.711000														18			10		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114176	147114176	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:147114176G>A	uc011bno.2	-	2	487	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	ZIC4_uc003ewc.2_5'UTR|ZIC4_uc021xff.1_Missense_Mutation_p.P89S|ZIC4_uc003ewd.2_Missense_Mutation_p.P51S|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	51						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GAGGCCTGGGGAGGCTCCTCG	0.687000														25			14		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172001634	172001634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:172001634C>T	uc001gie.3	+	4	858	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	DNM3_uc001gid.4_Missense_Mutation_p.R228C|DNM3_uc009wwb.2_Missense_Mutation_p.R228C|DNM3_uc001gif.3_Missense_Mutation_p.R228C	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	228					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GTTGCCTCTTCGCAGGGGTAA	0.393000														73			26		0	0	1	0	0
MST4	51765	broad.mit.edu	37	X	131206347	131206347	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:131206347C>T	uc004ewk.1	+	8	1285	c.984C>T	c.(982-984)acC>acT	p.T328T	MST4_uc004ewl.1_Silent_p.T251T|MST4_uc011mux.1_Silent_p.T350T|MST4_uc010nrj.1_Silent_p.T328T|MST4_uc004ewm.1_Silent_p.T266T	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	328					cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GCTTTACCACCGTACGAAAGA	0.403000														24			11		0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586117	20586118	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20586117_20586118CC>TT	uc001vwo.1	+	0	552_553	c.552_553CC>TT	c.(550-555)ctcctt>ctTTtt	p.L185F		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCTTGGGTCTCCTTCACTCAGG	0.446000														79			39		0	0	1	0	0
TMPPE	643853	broad.mit.edu	37	3	33134649	33134649	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:33134649G>A	uc003cfk.2	-	1	1251	c.1039C>T	c.(1039-1041)Cat>Tat	p.H347Y	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.H210Y|TMPPE_uc021wux.1_Missense_Mutation_p.H347Y	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN	Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.	347				H -> R (in Ref. 1; BAC87349).		integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						TCCATGCCATGGCCAGAGTAG	0.592000														131			39		0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70991597	70991597	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70991597G>A	uc021rvs.1	-	0	28	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S	ADAM20_uc001xme.3_Missense_Mutation_p.P10S	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	0					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GGGATCTGGGGATCTGTGTCC	0.532000														100			45		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158254056	158254056	+	Missense_Mutation	SNP	G	A	A	rs142538282	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:158254056G>A	uc003ipm.4	+	6	1427	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	GRIA2_uc011cit.2_Missense_Mutation_p.R276Q|GRIA2_uc003ipl.4_Missense_Mutation_p.R323Q|GRIA2_uc003ipk.4_Missense_Mutation_p.R276Q|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	323					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R323R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GAAATCTCCCGAAGGGGGAAT	0.478000														88			18		0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649270	75649270	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:75649270C>T	uc004ecm.2	+	0	1225	c.947C>T	c.(946-948)tCg>tTg	p.S316L		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	316	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GGTGAGGGATCGAGCACCTCC	0.711000														19			4		0	0	1	0	0
C12orf71	728858	broad.mit.edu	37	12	27235271	27235271	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:27235271G>A	uc001rhq.3	-	0	185	c.146C>T	c.(145-147)cCt>cTt	p.P49L		NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN	Homo sapiens chromosome 12 open reading frame 71 (C12orf71), mRNA.	49										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GTGGATGGAAGGACCCTTGGA	0.542000														34			8		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398577	89398577	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89398577G>A	uc010upo.1	+	11	3135	c.2761G>A	c.(2761-2763)Ggg>Agg	p.G921R	ACAN_uc010upp.1_Missense_Mutation_p.G921R|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	921					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)			ACTACCCTCAGGGGATGAAGA	0.587000														33			29		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32689700	32689700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:32689700C>T	uc010ezu.3	+	24	5199	c.5065C>T	c.(5065-5067)Cat>Tat	p.H1689Y		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	1689					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.V1688I(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATTCTTCATTCATCCATCTGA	0.488000														35			12		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277662	140277662	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:140277662C>T	uc003etn.3	+	11	2194	c.2004C>T	c.(2002-2004)ttC>ttT	p.F668F		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	668					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGAGCACCTTCGCCAAAACCG	0.532000										HNSCC(16;0.037)				56			20		0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91628487	91628487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:91628487G>A	uc004aqf.2	-	11	1967	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	554	SH2.			R -> Q (in Ref. 4; AAH26314).	Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TCCTTTGTCCGGATCTATGAA	0.488000														82			5		0	0	1	0	0
SECTM1	6398	broad.mit.edu	37	17	80285043	80285043	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:80285043G>A	uc002keo.3	-	1	472	c.74C>T	c.(73-75)tCc>tTc	p.S25F		NM_003004	NP_002995	Q8WVN6	SCTM1_HUMAN	Homo sapiens secreted and transmembrane 1 (SECTM1), mRNA.	25					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|extracellular space|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			AGCACTCAAGGAGGCAGCCAA	0.667000														16			5		0	0	1	0	0
ABI3	51225	broad.mit.edu	37	17	47295229	47295229	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:47295229G>A	uc002iop.1	+	2	912	c.414G>A	c.(412-414)agG>agA	p.R138R	ABI3_uc002ioq.1_Silent_p.R132R	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	138					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CCTACTGCAGGAGACCCCTCA	0.632000										HNSCC(55;0.14)				117			25		0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99441587	99441587	+	Silent	SNP	G	A	A	rs141454693	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:99441587G>A	uc003yin.3	+	1	1730	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	KCNS2_uc022azb.1_Silent_p.T460T	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	460						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CAAGCCTGACGAACATGAGCA	0.493000														82			40		0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58598337	58598338	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58598337_58598338CC>TT	uc010yht.1	-	4	878_879	c.848_849GG>AA	c.(847-849)ggg>gAA	p.G283E	ZSCAN18_uc002qrj.3_Missense_Mutation_p.G227E|ZSCAN18_uc010yhs.1_Missense_Mutation_p.G92E|ZSCAN18_uc002qrh.2_Missense_Mutation_p.G227E|ZSCAN18_uc002qri.2_Missense_Mutation_p.G227E|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	227					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCCCCACTCCCCCAGGTGCTG	0.644000														48			10		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142658103	142658103	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142658103G>A	uc003wcb.3	-	3	522	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	104					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGGCAAAGCTGAAGAAGTCGG	0.512000														136			35		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118997857	118997858	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:118997857_118997858CC>TT	uc004bjn.3	+	6	3054_3055	c.2673_2674CC>TT	c.(2671-2676)gaccct>gaTTct	p.P892S	PAPPA_uc011lxp.1_Missense_Mutation_p.P587S|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	892					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						TGGTCCGGGACCCTCCTCTCCA	0.505000														91			10		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125131980	125131980	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:125131980C>T	uc003yqw.3	+	40	5729	c.5523C>T	c.(5521-5523)ttC>ttT	p.F1841F	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1841						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			tcgtccttttcatcTACACCT	0.463000														137			34		0	0	1	0	0
NCK2	8440	broad.mit.edu	37	2	106509458	106509458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:106509458C>T	uc002tdg.3	+	4	1245	c.969C>T	c.(967-969)tcC>tcT	p.S323S	NCK2_uc002tdh.3_Missense_Mutation_p.P83S|NCK2_uc002tdi.3_Silent_p.S323S	NM_003581	NP_003572	O43639	NCK2_HUMAN	Homo sapiens NCK adaptor protein 2 (NCK2), transcript variant 1, mRNA.	323	SH2.				T cell activation|axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						TCTCCGTGTCCCTTAAAGCGT	0.567000														73			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179638073	179638073	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179638073G>A	uc021vsy.1	-	32	7843	c.7618C>T	c.(7618-7620)Cgt>Tgt	p.R2540C	TTN_uc021vsz.1_Missense_Mutation_p.R2494C|TTN_uc021vta.1_Missense_Mutation_p.R2494C|TTN_uc021vtb.1_Missense_Mutation_p.R2494C|TTN_uc002unb.2_Missense_Mutation_p.R2540C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2540							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R2494C(3)|p.R2540C(2)		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)			GTAAGGTCACGAAGACCTCTG	0.353000														68			22		0	0	1	0	0
C19orf75	284369	broad.mit.edu	37	19	51770657	51770657	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51770657G>A	uc002pwb.1	+	4	822	c.441G>A	c.(439-441)aaG>aaA	p.K147K	C19orf75_uc010eov.1_Non-coding_Transcript|C19orf75_uc010ycw.1_Silent_p.K53K	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	147						integral to membrane		p.A146A(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						AGCAGGCGAAGAAAGCTGCAG	0.468000														115			58		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030033	95030033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:95030033G>A	uc010avd.3	+	1	599	c.325G>A	c.(325-327)Ggg>Agg	p.G109R	SERPINA4_uc001ydk.3_Missense_Mutation_p.G72R|SERPINA4_uc001ydl.3_Missense_Mutation_p.G72R	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	72					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GGAGACCCCGGGGAAGAACAT	0.607000														74			32		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15290645	15290645	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15290645C>T	uc001iob.3	-	4	754	c.747G>A	c.(745-747)caG>caA	p.Q249Q		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	249						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TACCCAGCTTCTGGTCAAACC	0.557000														72			27		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60902947	60902947	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:60902947G>A	uc002ycq.3	-	35	4839	c.4772C>T	c.(4771-4773)cCc>cTc	p.P1591L	LAMA5_uc021wfw.1_Missense_Mutation_p.P1591L	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1591	Laminin EGF-like 15.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCTGTGAGGGGGTCACACAC	0.662000														45			27		0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2193006	2193006	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:2193006G>A	uc001lvq.3	-	0	30	c.11C>T	c.(10-12)cCc>cTc	p.P4L	TH_uc001lvp.3_Missense_Mutation_p.P4L|TH_uc001lvr.3_Missense_Mutation_p.P4L|TH_uc010qxj.2_Missense_Mutation_p.P4L|TH_uc001lvs.3_Missense_Mutation_p.P4L|TH_uc001lvt.3_Missense_Mutation_p.P4L|MIR4686_uc021qce.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	4					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GGTGGCGTCGGGGGTGGGCAT	0.662000														35			16		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72129198	72129198	+	Splice_Site	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:72129198A>T	uc003xyu.3	-	13	1839	c.1199_splice	c.e13+1	p.S400_splice	EYA1_uc003xyt.4_Splice_Site_p.S367_splice|EYA1_uc003xyr.4_Splice_Site_p.S365_splice|EYA1_uc010lzf.3_Splice_Site_p.S327_splice|EYA1_uc003xys.4_Splice_Site_p.S400_splice|EYA1_uc011lfe.2_Splice_Site_p.S394_splice|EYA1_uc003xyv.3_Splice_Site_p.S278_splice	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	400					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AAGGGTGCTCACCTTAGGTCC	0.358000														80			32		0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100129237	100129237	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:100129237C>T	uc010avs.3	+	5	1592	c.1527C>T	c.(1525-1527)aaC>aaT	p.N509N	HHIPL1_uc001ygl.1_Silent_p.N509N	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	509					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCCAAGAGAACCCAGGGACAG	0.572000														51			8		0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180381713	180381713	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:180381713C>T	uc010hxe.3	-	1	267	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	51					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGAATTAATTCGCTCTTCATA	0.328000														83			30		0	0	1	0	0
DIRC1	116093	broad.mit.edu	37	2	189599363	189599363	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189599363C>T	uc021vtu.1	-	0	285	c.285G>A	c.(283-285)tgG>tgA	p.W95*	DIRC1_uc002uqi.1_Nonsense_Mutation_p.W95*	NM_052952	NP_443184	Q969H9	DIRC1_HUMAN	Homo sapiens disrupted in renal carcinoma 1 (DIRC1), mRNA.	95										large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			TTAATATTTTCCACCCCCTCA	0.373000														153			57		0	0	1	0	0
TM6SF1	53346	broad.mit.edu	37	15	83784673	83784673	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83784673C>T	uc002bjp.3	+	2	382	c.273C>T	c.(271-273)ttC>ttT	p.F91F	TM6SF1_uc010bmq.3_Silent_p.F91F|TM6SF1_uc002bjq.3_Silent_p.F91F|TM6SF1_uc010bmr.3_Non-coding_Transcript	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA.	91						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TTGACGGGTTCATGACACACT	0.433000														67			22		0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862608	5862608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5862608G>A	uc010qzq.2	-	0	520	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R178C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGATGATACGATGTCCACAG	0.478000														107			39		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51792266	51792266	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51792266G>A	uc010ufy.2	-	17	3380	c.3155C>T	c.(3154-3156)cCt>cTt	p.P1052L	DMXL2_uc002abf.3_Missense_Mutation_p.P1052L|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1052						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTCATCAAAGGCCATCTCTT	0.413000														84			25		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655520	46655520	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:46655520C>T	uc003bhh.3	-	0	3700	c.3700G>A	c.(3700-3702)Gtg>Atg	p.V1234M		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1234	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAAATAGTCACCAAGTAGCAT	0.443000														104			52		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114289975	114289975	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:114289975C>T	uc004bff.2	+	1	524	c.300C>T	c.(298-300)ttC>ttT	p.F100F	ZNF483_uc011lwq.2_Silent_p.F100F|ZNF483_uc004bfg.2_Silent_p.F100F|ZNF483_uc010mud.1_Silent_p.F100F	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	100	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TTGAGCAGTTCCTGACCATTT	0.473000														75			33		0	0	1	0	0
STK40	83931	broad.mit.edu	37	1	36823848	36823848	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:36823848G>A	uc001cak.1	-	4	741	c.334C>T	c.(334-336)Ctc>Ttc	p.L112F	STK40_uc001cal.1_Missense_Mutation_p.L117F|STK40_uc001cam.1_Missense_Mutation_p.L112F|STK40_uc001can.1_Missense_Mutation_p.L112F	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	Homo sapiens serine/threonine kinase 40 (STK40), mRNA.	112	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				ACCTGGAAGAGGCCGTGGTGG	0.647000														27			25		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121747721	121747721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:121747721G>A	uc010flp.3	+	12	4261	c.4231G>A	c.(4231-4233)Gaa>Aaa	p.E1411K	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.E1083K|GLI2_uc002tmu.4_Missense_Mutation_p.E1066K	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1411					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GTCCAGTCAGGAAACAGCAGA	0.697000														35			11		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8476354	8476354	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:8476354C>T	uc001mgi.1	-	5	1642	c.723G>A	c.(721-723)ctG>ctA	p.L241L	STK33_uc001mgj.1_Silent_p.L241L|STK33_uc001mgk.1_Silent_p.L241L|STK33_uc010rbn.1_Silent_p.L200L|STK33_uc001mgl.3_Silent_p.L54L|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	241	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTATATTTTCCAGTTTCAGAT	0.259000														52			10		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41423891	41423891	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41423891C>T	uc002yyq.1	-	29	5631	c.5179G>A	c.(5179-5181)Gga>Aga	p.G1727R	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1727					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCACTCGTTCCCGGCCGAGCG	0.478000														178			32		0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413290	124413290	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124413290C>T	uc010sam.2	-	0	261	c.261G>A	c.(259-261)agG>agA	p.R87R		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	87					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)		TGATGTTCTTCCTTGAGACAA	0.433000														81			24		0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156378652	156378652	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156378652G>A	uc003lwh.2	-	2	607	c.550C>T	c.(550-552)Cag>Tag	p.Q184*	TIMD4_uc010jii.2_Nonsense_Mutation_p.Q184*	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	184	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGTCATCTGGAGTGGTGTT	0.552000														125			39		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140789314	140789314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140789314C>T	uc003lkj.2	+	0	1545	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Silent_p.F515F	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	517	Cadherin 5.				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)			GGGTGGTGTTCGCGCAGCGCG	0.667000														23			4		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52211401	52211401	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:52211401C>T	uc003jou.3	+	14	2379	c.1965C>T	c.(1963-1965)ggC>ggT	p.G655G	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Silent_p.G186G	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	655					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.G654G(2)|p.G654V(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CTATTGGGGGCCTTGGTGGTG	0.468000														114			62		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57931719	57931719	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:57931719G>A	uc002aei.3	+	9	1226	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	GCOM1_uc002aej.3_Silent_p.K365K|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Silent_p.K365K|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Silent_p.K365K	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	365					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GCCAGCAGAAGAAAGTCAAGC	0.522000														34			10		0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59373179	59373179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:59373179C>T	uc002afv.3	+	7	2272	c.1993C>T	c.(1993-1995)Ccg>Tcg	p.P665S	RNF111_uc002afs.3_Missense_Mutation_p.P665S|RNF111_uc002aft.3_Missense_Mutation_p.P665S|RNF111_uc002afu.3_Missense_Mutation_p.P664S|RNF111_uc002afw.3_Missense_Mutation_p.P665S|RNF111_uc002afx.3_Missense_Mutation_p.P191S	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	665	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TTCTGCCTGCCCGCATTCTCA	0.438000														161			25		0	0	1	0	0
C9	735	broad.mit.edu	37	5	39331857	39331857	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:39331857C>T	uc003jlv.4	-	4	625	c.536G>A	c.(535-537)gGa>gAa	p.G179E		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	179	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)			GTTACAGAGTCCATTGTAGAA	0.438000														147			48		0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49663596	49663596	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:49663596C>T	uc003ozn.2	-	8	793	c.557G>A	c.(556-558)gGa>gAa	p.G186E	CRISP2_uc003ozr.2_Missense_Mutation_p.G186E|CRISP2_uc003ozo.2_Missense_Mutation_p.G186E|CRISP2_uc003ozm.2_Missense_Mutation_p.G221E|CRISP2_uc003ozp.2_Missense_Mutation_p.G186E|CRISP2_uc003ozq.2_Missense_Mutation_p.G186E|CRISP2_uc003ozl.2_Missense_Mutation_p.G186E	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	186						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ACAAGGTGTTCCTTGTTGGTA	0.338000														61			22		0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89128865	89128865	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:89128865C>T	uc003yeb.4	-	5	1236	c.954G>A	c.(952-954)agG>agA	p.R318R		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	318					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGTCATTTTTCCTTGGGTCAG	0.527000														118			50		0	0	1	0	0
NRL	4901	broad.mit.edu	37	14	24552051	24552052	+	Silent	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24552051_24552052GG>AA	uc001wlo.3	-	1	137_138	c.6_7CC>TT	c.(4-9)gccctg>gcTTtg	p.2_3AL>AL	NRL_uc021rrk.1_5'Flank|NRL_uc001wlp.3_Silent_p.2_3AL>AL|NRL_uc001wlq.3_Silent_p.2_3AL>AL	NM_006177	NP_006168	P54845	NRL_HUMAN	Homo sapiens neural retina leucine zipper (NRL), mRNA.	2					response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		CTGGGGGGCAGGGCCATTCTGG	0.604000														45			11		0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42583205	42583205	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42583205C>A	uc002osk.4	+	1	952	c.717C>A	c.(715-717)ctC>ctA	p.L239L	ZNF574_uc002osm.4_Silent_p.L149L|ZNF574_uc021uva.1_Silent_p.L149L	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				AGACGCACCTCCGGGCCACAC	0.642000														77			47		6.23363e-37	6.27296e-37	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208224719	208224719	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:208224719G>A	uc001hgz.3	-	15	3801	c.3043C>T	c.(3043-3045)Ctt>Ttt	p.L1015F		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1015	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACCGGGCCAAGGCCATTGGAT	0.562000														37			13		0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350174	51350174	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51350174G>A	uc001zyy.3	-	2	883	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	261										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		GGGTGGAGAGGAACTCCACAT	0.517000														61			26		0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77475383	77475383	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:77475383C>T	uc002lnh.2	+	7	2070	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	CTDP1_uc002lni.2_Silent_p.F641F|CTDP1_uc010drd.2_Silent_p.F641F|CTDP1_uc021ult.1_Silent_p.F522F	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	641	BRCT.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCATAATTTTCAGTGGGCTAC	0.597000														13			4		0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233752796	233752796	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233752796C>T	uc002vts.2	-	8	1542	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	NGEF_uc010zmm.1_Missense_Mutation_p.E155K|NGEF_uc010fyg.1_Missense_Mutation_p.E340K	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	432	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TCAGACCTCTCTTCTACCCTC	0.488000														62			29		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1262685	1262685	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1262685G>A	uc001lta.3	+	30	4634	c.4575G>A	c.(4573-4575)ggG>ggA	p.G1525G		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1525	7 X Cys-rich subdomain repeats.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AACTTGGAGGGGACGTTGAGT	0.607000														16			11		0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6606396	6606396	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:6606396C>T	uc002gdj.3	-	4	697	c.609G>A	c.(607-609)agG>agA	p.R203R	SLC13A5_uc010clq.3_Silent_p.R160R|SLC13A5_uc002gdk.3_Silent_p.R186R|SLC13A5_uc010vtf.2_Silent_p.R203R|SLC13A5_uc002gdl.1_Silent_p.R185R	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	203						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CCTTACACAACCTCTTCCGCT	0.627000														52			32		0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10405169	10405169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10405169C>T	uc002mnu.4	+	8	2148	c.2083C>T	c.(2083-2085)Cgc>Tgc	p.R695C	ICAM5_uc002mnv.4_Missense_Mutation_p.R570C	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	695	Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGCCCGGGGTCGCCCTTCCCC	0.677000														27			9		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172007471	172007471	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:172007471C>T	uc001gie.3	+	6	1038	c.862C>T	c.(862-864)Cac>Tac	p.H288Y	DNM3_uc001gid.4_Missense_Mutation_p.H288Y|DNM3_uc009wwb.2_Missense_Mutation_p.H288Y|DNM3_uc001gif.3_Missense_Mutation_p.H288Y	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	288					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACTTACCAACCACATTCGGGA	0.378000														53			17		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65016033	65016033	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:65016033C>T	uc002eoi.3	-	7	1605	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	CDH11_uc010cdn.3_Intron|CDH11_uc002eoj.3_Missense_Mutation_p.E391K|CDH11_uc010vin.2_Missense_Mutation_p.E265K|CDH11_uc002eok.1_Non-coding_Transcript	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	391	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.E391D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCTTGGACTTCGTGGATGTAA	0.502000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				105			17		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473672	19473672	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:19473672G>A	uc003jgd.3	-	12	2570	c.2036C>T	c.(2035-2037)cCt>cTt	p.P679L	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.P679L|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	679					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGCAGCAGAAGGATTCCTCAA	0.507000														97			51		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3790455	3790455	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3790455G>A	uc002cvv.3	-	23	4282	c.4078C>T	c.(4078-4080)Cga>Tga	p.R1360*	CREBBP_uc002cvw.3_Nonsense_Mutation_p.R1322*	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1360	Cys/His-rich.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1360*(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCCACCACTCGGACAAAAACC	0.582000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							65			7		0	0	1	0	0
POC5	134359	broad.mit.edu	37	5	75008689	75008689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:75008689G>A	uc003keh.4	-	1	271	c.74C>T	c.(73-75)tCg>tTg	p.S25L	POC5_uc010izu.3_5'Flank|POC5_uc003keg.4_5'Flank	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN	Homo sapiens POC5 centriolar protein homolog (Chlamydomonas) (POC5), transcript variant 1, mRNA.	25					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTGAAGATTCGAAGAGACAGA	0.323000														19			5		0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43678849	43678849	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:43678849C>T	uc001jan.3	+	7	1823	c.1488C>T	c.(1486-1488)ccC>ccT	p.P496P		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	496					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.P496P(2)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGCTGACCCCCGAGCAGTACC	0.517000														212			22		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139657436	139657436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:139657436C>T	uc011kqv.2	+	8	1068	c.833C>T	c.(832-834)tCa>tTa	p.S278L	TBXAS1_uc003vvh.3_Missense_Mutation_p.S232L|TBXAS1_uc010lne.3_Missense_Mutation_p.S164L|TBXAS1_uc011kqu.2_Missense_Mutation_p.S183L|TBXAS1_uc003vvi.3_Missense_Mutation_p.S232L|TBXAS1_uc011kqw.2_Missense_Mutation_p.S212L|TBXAS1_uc003vvj.3_Missense_Mutation_p.S232L	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	231					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					TTTCAAGTATCATTTCCATCC	0.453000														65			19		0	0	1	0	0
DHRS3	9249	broad.mit.edu	37	1	12677180	12677180	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12677180G>A	uc001auc.3	-	0	641	c.174C>T	c.(172-174)ttC>ttT	p.F58F	DHRS3_uc001aub.3_5'Flank|DHRS3_uc009vnm.3_Silent_p.F58F|DHRS3_uc001aud.4_Silent_p.F58F	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	58					retinol metabolic process|visual perception	integral to membrane	NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CGCGCTCCGCGAACTCGCGGG	0.731000														49			26		0	0	1	0	0
RCC1	1104	broad.mit.edu	37	1	28864346	28864346	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:28864346C>T	uc001bqb.2	+	12	1492	c.1093C>T	c.(1093-1095)Cgt>Tgt	p.R365C	RCC1_uc001bqa.2_Missense_Mutation_p.R365C|RCC1_uc001bqc.2_Missense_Mutation_p.R365C|RCC1_uc001bqe.2_Missense_Mutation_p.R382C|RCC1_uc001bqf.2_Missense_Mutation_p.R396C|RCC1_uc001bqg.2_Missense_Mutation_p.R365C	NM_001269	NP_001260	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA.	365					G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTGCAGGTCGTGTTTTCGC	0.592000														13			10		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78796447	78796447	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:78796447C>T	uc004akc.2	+	15	2675	c.2137C>T	c.(2137-2139)Ctg>Ttg	p.L713L	PCSK5_uc004ajz.3_Silent_p.L713L|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_5'UTR	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	713	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGGATACTTTCTGAATGAAGA	0.478000														79			37		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106124630	106124630	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106124630G>A	uc001kyh.3	+	3	714	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	194										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGAGGAGGCTGAACATGCCAT	0.488000														39			18		0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50253064	50253064	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:50253064C>T	uc003cyn.4	+	5	600	c.459C>T	c.(457-459)atC>atT	p.I153I	SLC38A3_uc011bdl.2_Silent_p.I129I|SLC38A3_uc011bdm.2_Silent_p.I85I	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	154					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	TCCAGAACATCGGAGGTAAGA	0.657000														55			5		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891226	18891226	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:18891226G>A	uc001rdy.3	+	0	182	c.24G>A	c.(22-24)agG>agA	p.R8R	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	8					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TGCTGAGCAGGAAGGACAAGG	0.433000														75			25		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78400326	78400326	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:78400326C>T	uc001syp.3	+	7	1181	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	NAV3_uc001syo.3_Silent_p.S336S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	336						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S336S(2)		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						GCAGCAAGTCCATGAATGTCA	0.562000										HNSCC(70;0.22)				64			29		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9098032	9098032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:9098032G>A	uc001apo.3	-	10	1518	c.1226C>T	c.(1225-1227)cCa>cTa	p.P409L	SLC2A5_uc010nzy.2_Missense_Mutation_p.P350L|SLC2A5_uc010nzz.2_Missense_Mutation_p.P294L|SLC2A5_uc010oaa.2_Missense_Mutation_p.P365L	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	409					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	p.R408R(1)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGGCAGATGGCCGAGAGGA	0.647000														24			10		0	0	1	0	0
MKKS	8195	broad.mit.edu	37	20	10393290	10393290	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:10393290G>A	uc002wnt.1	-	2	1760	c.873C>T	c.(871-873)gtC>gtT	p.V291V	MKKS_uc002wnu.1_Silent_p.V291V|MKKS_uc010zrd.1_Intron	NM_018848	NP_740754	Q9NPJ1	MKKS_HUMAN	Homo sapiens McKusick-Kaufman syndrome (MKKS), transcript variant 1, mRNA.	291	Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TTTGGCACAGGACAAGATCTA	0.438000														80			30		0	0	1	0	0
CRCT1	54544	broad.mit.edu	37	1	152487946	152487946	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152487946C>T	uc021oyy.1	+	0	87	c.87C>T	c.(85-87)ccC>ccT	p.P29P	CRCT1_uc001ezz.3_Silent_p.P29P	NM_019060	NP_061933	Q9UGL9	CRCT1_HUMAN	Homo sapiens cysteine-rich C-terminal 1 (CRCT1), mRNA.	29										lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ccccggcgcccaccccggcgc	0.716000														23			3		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123843062	123843062	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:123843062C>T	uc001lfv.3	+	3	1407	c.1047C>T	c.(1045-1047)ggC>ggT	p.G349G	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.G349G|TACC2_uc010qtv.2_Silent_p.G349G	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	349						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)				TGCCCTGGGGCTTGCCAAGTC	0.627000														65			22		0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113231680	113231680	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:113231680C>T	uc001eck.3	+	2	531	c.261C>T	c.(259-261)ttC>ttT	p.F87F	MOV10_uc001ecl.2_Silent_p.F87F|MOV10_uc001ecn.3_Silent_p.F87F|MOV10_uc001ecm.3_Silent_p.F27F|MOV10_uc009wgj.1_Silent_p.F27F	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	87					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ACGTGCGGTTCCCAGAAAAGA	0.498000														42			20		0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005323	25005324	+	Nonsense_Mutation	DNP	CC	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:25005323_25005324CC>TA	uc003grf.2	-	7	1486_1487	c.1387_1388GG>TA	c.(1387-1389)ggg>TAg	p.G463*		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	463						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GGTCATGGCCCCCCGGGATGGA	0.505000														186			53		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20534356	20534356	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:20534356C>T	uc001iqg.1	+	12	2032	c.1395C>T	c.(1393-1395)ctC>ctT	p.L465L	PLXDC2_uc001iqh.1_Silent_p.L416L|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	465						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TCCTGGTCCTCATTGTAGCCA	0.473000														149			60		0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53547816	53547816	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:53547816G>A	uc001cuv.3	+	9	2137	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K	PODN_uc010onr.2_Missense_Mutation_p.E638K|PODN_uc010ons.2_Missense_Mutation_p.E515K|PODN_uc001cuw.3_Missense_Mutation_p.E638K	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	609					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ggaggaggaggaagaggaAAC	0.522000														19			14		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125015581	125015581	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:125015581G>A	uc003yqw.3	+	12	1900	c.1694G>A	c.(1693-1695)gGg>gAg	p.G565E	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	565						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTGACAGAAGGGAACAGGTAG	0.502000														39			11		0	0	1	0	0
ASAH2B	653308	broad.mit.edu	37	10	52502754	52502754	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:52502754C>T	uc001jjg.3	+	1	135	c.70C>T	c.(70-72)Cta>Tta	p.L24L	ASAH2B_uc010qhm.2_5'UTR	NM_001079516	NP_001072984	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B (ASAH2B), mRNA.	639					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(2)|lung(2)	4						AGAAACCTTGCTAAGGCTATT	0.483000														166			15		0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19319266	19319266	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:19319266C>T	uc010vyw.2	+	13	1905	c.1674C>T	c.(1672-1674)ctC>ctT	p.L558L	RNF112_uc021tsa.1_Non-coding_Transcript	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	558							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGGCCGGGCTCATGGGCCTGG	0.687000														4			8		0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9998483	9998483	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:9998483G>A	uc003gmc.3	-	2	393	c.332C>T	c.(331-333)tCt>tTt	p.S111F	SLC2A9_uc003gmd.3_Missense_Mutation_p.S82F	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	111					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CACAGTCACAGACCAGAGCAA	0.453000														56			35		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135744367	135744367	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:135744367G>A	uc002tue.1	-	6	2106	c.2075C>T	c.(2074-2076)cCa>cTa	p.P692L	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P579L|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.P420L|YSK4_uc002tui.4_Missense_Mutation_p.P709L	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	692							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCTGCCTGATGGAGCCGAACA	0.418000														173			81		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119033623	119033623	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:119033623G>A	uc004bjn.3	+	8	3262	c.2881G>A	c.(2881-2883)Gac>Aac	p.D961N	PAPPA_uc011lxp.1_Missense_Mutation_p.D656N|PAPPA_uc011lxq.2_Missense_Mutation_p.D336N	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	961					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						TGAACAATGCGACGACATGAA	0.448000														122			48		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848510	166848510	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166848510G>A	uc002udo.4	-	27	5502	c.5275C>T	c.(5275-5277)Cca>Tca	p.P1759S	SCN1A_uc010fpk.3_Missense_Mutation_p.P1731S|SCN1A_uc021vsb.1_Missense_Mutation_p.P1748S	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1759						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCAACAGATGGGTTCCCACAG	0.463000														223			87		0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115805519	115805519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:115805519G>A	uc011lwz.1	-	3	1452	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L	ZFP37_uc004bgm.1_Missense_Mutation_p.P460L|ZFP37_uc011lxa.1_Missense_Mutation_p.P461L	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	460						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACATTCAAAGGGTTTCTCACC	0.353000														48			17		0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75900467	75900468	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:75900467_75900468GG>AA	uc001vjl.1	-	9	2245_2246	c.1898_1899CC>TT	c.(1897-1899)tcc>tTT	p.S633F	TBC1D4_uc010aer.2_Missense_Mutation_p.S633F|TBC1D4_uc010aes.2_Missense_Mutation_p.S633F	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	633						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAAACTGCGGGGAGTCGGAATC	0.584000														44			16		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344970	20344970	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20344970C>T	uc001vwh.1	+	0	544	c.544C>T	c.(544-546)Cct>Tct	p.P182S		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGTGACCTTCCTGTGGTGTT	0.423000														315			134		0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64627777	64627777	+	Silent	SNP	G	A	A	rs148805183		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64627777G>A	uc010rnq.1	-	3	623	c.576C>T	c.(574-576)ttC>ttT	p.F192F	EHD1_uc001obu.1_Silent_p.F178F|EHD1_uc001obv.1_Silent_p.F178F	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	178					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CACGCTCCGCGAACCACTCCA	0.587000														34			19		0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36170723	36170723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:36170723G>A	uc003zzb.4	+	0	1335	c.1224G>A	c.(1222-1224)aaG>aaA	p.K408K		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	408					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TGGCAGGAAAGATGAGCATCC	0.547000														68			28		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121384967	121384967	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121384967C>T	uc001pxx.3	+	7	1277	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	383					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTGAAGTTCTCCCTGTCCTTG	0.542000														62			19		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121393311	121393311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121393311C>T	uc001pxx.3	+	9	1550	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	474					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGGGCTGTTCCCTTCATCTG	0.572000														172			52		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639748	179639748	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179639748G>A	uc021vsy.1	-	28	6915	c.6690C>T	c.(6688-6690)ttC>ttT	p.F2230F	TTN_uc021vsz.1_Silent_p.F2184F|TTN_uc021vta.1_Silent_p.F2184F|TTN_uc021vtb.1_Silent_p.F2184F|TTN_uc002unb.2_Silent_p.F2230F|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2230	Ig-like 11.						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)			GTATGGAGAGGAAGTGAACCT	0.388000														74			23		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221279	161221279	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:161221279G>A	uc011bpb.2	+	3	983	c.983G>A	c.(982-984)cGg>cAg	p.R328Q		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	328	Collagen-like 3.					collagen		p.R328W(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AAGGGCTCTCGGGGCTTTAAA	0.572000														16			7		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87730951	87730951	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:87730951G>A	uc003hpz.3	+	45	7593	c.7113G>A	c.(7111-7113)ctG>ctA	p.L2371L	PTPN13_uc003hpy.3_Silent_p.L2376L|PTPN13_uc003hqa.3_Silent_p.L2352L|PTPN13_uc003hqb.3_Silent_p.L2180L	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2371	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTTCTCATCTGAATTTCACTG	0.388000														84			38		0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99182197	99182197	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:99182197C>T	uc002syy.3	+	20	2655	c.2262C>T	c.(2260-2262)tcC>tcT	p.S754S	INPP4A_uc010yvj.1_Silent_p.S715S|INPP4A_uc010yvk.2_Silent_p.S715S|INPP4A_uc002syx.3_Silent_p.S749S|INPP4A_uc010fik.3_Silent_p.S83S	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	754					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CCAGCGCCTCCGCAGACATGC	0.517000														85			7		0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124381320	124381320	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:124381320G>A	uc003yqh.4	-	7	1135	c.1027C>T	c.(1027-1029)Cct>Tct	p.P343S	ATAD2_uc011lii.2_Missense_Mutation_p.P134S|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.P343S	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTACAGTAAGGACTTCTTGGT	0.403000														44			22		0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49511034	49511034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:49511034G>A	uc002xvt.1	-	4	562	c.217C>T	c.(217-219)Cct>Tct	p.P73S	ADNP_uc002xvu.1_Missense_Mutation_p.P73S	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	73						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						CAGCAGAAAGGTTTTGTCCGA	0.393000														70			22		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12639443	12639443	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12639443G>A	uc002mty.3	-	1	281	c.71C>T	c.(70-72)tCc>tTc	p.S24F	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TTTCTTCTGGGAAGGATCCAG	0.463000														124			51		0	0	1	0	0
ZNF696	79943	broad.mit.edu	37	8	144378516	144378516	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144378516C>T	uc003yxy.4	+	2	1080	c.671C>T	c.(670-672)gCc>gTc	p.A224V		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	Homo sapiens zinc finger protein 696 (ZNF696), mRNA.	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGGTCGGACGCCGCCAAGCAC	0.721000														11			4		0	0	1	0	0
SNRPA1	6627	broad.mit.edu	37	15	101833366	101833366	+	Missense_Mutation	SNP	G	A	A	rs138801817	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:101833366G>A	uc002bww.3	-	1	171	c.94C>T	c.(94-96)Ccc>Tcc	p.P32S	SNRPA1_uc002bwx.3_Intron|SNRPA1_uc010bpc.3_Intron	NM_003090	NP_003081	P09661	RU2A_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A' (SNRPA1), mRNA.	32						U2 snRNP|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCAATGACGGGAATTTTATAC	0.348000														39			7		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519592	113519592	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:113519592C>T	uc010ljy.1	-	3	1586	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	519					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATTCTTTGTTCTTCATCATCC	0.333000														31			9		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92088157	92088157	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92088157C>T	uc001pdj.4	+	0	2896	c.2879C>T	c.(2878-2880)aCc>aTc	p.T960I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	960	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.T960S(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGCTTGAGACCCATGATCCA	0.468000										TCGA Ovarian(4;0.039)				76			29		0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92638150	92638150	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:92638150G>T	uc002bqx.2	+	2	887	c.686G>T	c.(685-687)gGg>gTg	p.G229V	SLCO3A1_uc002bqy.2_Missense_Mutation_p.G229V|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.G171V	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	229					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	p.G229W(1)|p.C228C(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CCAGCCTGCGGGTTTATCCTG	0.428000														99			21		7.92952e-12	7.96065e-12	1	1	0
PLIN5	440503	broad.mit.edu	37	19	4525711	4525711	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4525711C>T	uc002mas.3	-	5	707	c.654G>A	c.(652-654)ggG>ggA	p.G218G		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	218						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GCCTCAGTTTCCCCACAGAGT	0.662000														68			34		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169432901	169432901	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169432901G>A	uc011cjx.2	+	1	457	c.246G>A	c.(244-246)aaG>aaA	p.K82K	PALLD_uc003iru.3_Silent_p.K82K	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	82					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTTCCCATAAGGAGACCAAAT	0.483000									Pancreatic Cancer, Familial Clustering of					36			8		0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76029030	76029030	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:76029030G>A	uc003ken.4	+	1	1245	c.980G>A	c.(979-981)gGa>gAa	p.G327E		NM_001992	NP_001983	P25116	PAR1_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor (F2R), mRNA.	327					STAT protein import into nucleus|activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|tyrosine phosphorylation of STAT protein	Golgi apparatus|caveola|extracellular region|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	ATTTGCTTCGGACCCACAAAC	0.512000														101			34		0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798216	148798216	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:148798216G>A	uc004fdq.3	+	4	1225	c.1070G>A	c.(1069-1071)aGg>aAg	p.R357K	MAGEA11_uc004fdr.3_Missense_Mutation_p.R328K	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	357	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GAGCCCAAGAGGCTCCTTACC	0.562000														78			102		0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738756	138738756	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:138738756G>A	uc003esy.1	-	0	1013	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	250	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGTTCCGGGAGCGGCGAGCGC	0.677000														21			9		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197024862	197024862	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197024862G>A	uc001gtt.1	-	7	1381	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	446	Sushi 7.				blood coagulation	extracellular region		p.S446P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AACAGGTGGGGATGACCATTT	0.368000														73			39		0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214794828	214794828	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:214794828C>T	uc002veq.3	+	11	1451	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	SPAG16_uc010fuz.2_Silent_p.S304S|SPAG16_uc002ver.3_Silent_p.S399S|SPAG16_uc010zjk.2_Silent_p.S359S	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	453					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTGTGGCTTCCTCCTCACTGG	0.428000														84			53		0	0	1	0	0
SNX1	6642	broad.mit.edu	37	15	64404804	64404804	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:64404804C>T	uc002amv.3	+	1	322	c.192C>T	c.(190-192)tcC>tcT	p.S64S	SNX1_uc010bgv.3_5'UTR|SNX1_uc010uio.2_Silent_p.S64S|SNX1_uc002amx.3_Silent_p.S64S|SNX1_uc010bgw.3_5'UTR	NM_003099	NP_003090	Q13596	SNX1_HUMAN	Homo sapiens sorting nexin 1 (SNX1), transcript variant 1, mRNA.	64					cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	Golgi apparatus|early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TAACTACATCCCTTCTTCCCA	0.393000														124			8		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20048142	20048142	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:20048142G>A	uc001umd.3	-	6	515	c.304C>T	c.(304-306)Ctt>Ttt	p.L102F	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Missense_Mutation_p.L65F|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	102						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GGAATATAAAGTTTGCTGTCA	0.323000														109			40		0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44449850	44449850	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:44449850G>C	uc003gwu.3	-	0	975	c.691C>G	c.(691-693)Cgt>Ggt	p.R231G		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	231						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CGCGCCACACGCCGGAATTTG	0.711000										HNSCC(17;0.042)				10			5		0	0	1	0	0
HOOK1	51361	broad.mit.edu	37	1	60328519	60328519	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:60328519G>A	uc009wad.3	+	16	1698	c.1596G>A	c.(1594-1596)caG>caA	p.Q532Q	HOOK1_uc001czo.3_Silent_p.Q532Q|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Silent_p.Q490Q	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	532	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AATCTTTACAGGAACAAGGTT	0.368000														94			21		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40689277	40689277	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:40689277C>T	uc001rmg.4	+	22	3048	c.2927C>T	c.(2926-2928)tCt>tTt	p.S976F	LRRK2_uc001rmh.1_Missense_Mutation_p.S598F|LRRK2_uc009zjw.3_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	976					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGCATTTCTTCTCTGGCTTCT	0.338000														61			17		0	0	1	0	0
GJC3	349149	broad.mit.edu	37	7	99526588	99526588	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99526588C>T	uc011kjd.2	-	0	656	c.656G>A	c.(655-657)tGg>tAg	p.W219*		NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN	Homo sapiens gap junction protein, gamma 3, 30.2kDa (GJC3), mRNA.	219						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CCAGGTCCTCCACCATCTCCC	0.458000														53			24		0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54277897	54277898	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:54277897_54277898CC>TT	uc003jpk.3	-	1	447_448	c.378_379GG>AA	c.(376-381)acggga>acAAga	p.G127R	ESM1_uc010ivt.3_Intron	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Homo sapiens endothelial cell-specific molecule 1 (ESM1), transcript variant 1, mRNA.	127					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			AGGCATTTTCCCGTCCCCCTGT	0.495000														109			49		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2714298	2714298	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2714298G>A	uc009zdu.1	+	23	3385	c.3072G>A	c.(3070-3072)agG>agA	p.R1024R	CACNA1C_uc001qkc.2_Silent_p.R1004R|CACNA1C_uc001qjz.2_Silent_p.R1004R|CACNA1C_uc001qkd.2_Silent_p.R1004R|CACNA1C_uc001qke.2_Silent_p.R1004R|CACNA1C_uc001qkf.2_Silent_p.R1004R|CACNA1C_uc009zdw.1_Silent_p.R1004R|CACNA1C_uc001qkg.2_Silent_p.R1004R|CACNA1C_uc001qkh.2_Silent_p.R1004R|CACNA1C_uc001qkl.2_Silent_p.R1024R|CACNA1C_uc001qkj.2_Silent_p.R1004R|CACNA1C_uc001qkk.2_Silent_p.R1004R|CACNA1C_uc001qkn.2_Silent_p.R1004R|CACNA1C_uc001qkm.2_Silent_p.R1004R|CACNA1C_uc001qko.2_Silent_p.R1024R|CACNA1C_uc001qkp.2_Silent_p.R1004R|CACNA1C_uc001qkq.2_Silent_p.R1004R|CACNA1C_uc001qku.2_Silent_p.R1004R|CACNA1C_uc001qkr.2_Silent_p.R1004R|CACNA1C_uc001qks.2_Silent_p.R1004R|CACNA1C_uc001qkt.2_Silent_p.R1004R|CACNA1C_uc009zdv.1_Silent_p.R1001R|CACNA1C_uc001qkb.2_Silent_p.R1004R|CACNA1C_uc001qka.1_Silent_p.R539R|CACNA1C_uc001qki.1_Silent_p.R740R	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1024					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GAGTACTCAGGCCCCTGAGGG	0.592000														50			7		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983180	97983180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:97983180G>A	uc003dsi.1	+	0	52	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGAGGAGATGGAAGAGGAAAA	0.388000														153			73		0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55792097	55792097	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:55792097G>A	uc002rzc.3	-	13	2708	c.2016C>T	c.(2014-2016)ttC>ttT	p.F672F	SMEK2_uc002rzb.3_Silent_p.F587F|SMEK2_uc002rzd.3_Silent_p.F640F|SMEK2_uc002ryz.3_Silent_p.F106F|SMEK2_uc002rza.3_Silent_p.F463F	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	672						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCAATCCTTTGAATGTCTGAA	0.308000														34			13		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72346896	72346896	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72346896G>A	uc002jkm.4	+	11	1577	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q	KIF19_uc002jkj.2_Missense_Mutation_p.R480Q|KIF19_uc002jkk.2_Missense_Mutation_p.R438Q|KIF19_uc002jkl.2_Missense_Mutation_p.R438Q	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	480					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GAGGAGCAGCGAAAGGAGTGC	0.647000														89			27		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74019403	74019403	+	Silent	SNP	G	A	A	rs148972745		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74019403G>A	uc010wss.1	-	3	678	c.450C>T	c.(448-450)gtC>gtT	p.V150V	EVPL_uc002jqi.2_Silent_p.V150V|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	150	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GTGCCCAGTCGACCCTGGGTC	0.607000														90			38		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43067772	43067772	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43067772G>A	uc001zqo.2	-	12	1998	c.1559C>T	c.(1558-1560)tCt>tTt	p.S520F	TTBK2_uc010bcy.2_Missense_Mutation_p.S451F	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	520					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGTGTTGGCAGAAGCAGGCTT	0.502000														90			33		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16892697	16892697	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:16892697G>A	uc010rcu.1	-	3	269	c.254C>T	c.(253-255)cCt>cTt	p.P85L	PLEKHA7_uc001mmo.3_Missense_Mutation_p.P85L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	85	WW 2.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCCCGTCACAGGATGCCTGAA	0.428000														69			16		0	0	1	0	0
ZFP3	124961	broad.mit.edu	37	17	4995352	4995352	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:4995352C>T	uc002gaq.3	+	1	678	c.553C>T	c.(553-555)Cga>Tga	p.R185*	ZFP3_uc021tog.1_Nonsense_Mutation_p.R185*	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA.	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TTCAAGCCTTCGACGGCACCT	0.398000														50			49		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38607954	38607954	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38607954G>A	uc021wvo.1	-	19	3838	c.3786C>T	c.(3784-3786)ggC>ggT	p.G1262G	SCN5A_uc021wvk.1_Silent_p.G1261G|SCN5A_uc021wvl.1_Silent_p.G1208G|SCN5A_uc021wvm.1_Silent_p.G1262G|SCN5A_uc021wvn.1_Silent_p.G1261G|SCN5A_uc021wvp.1_Silent_p.G1262G|SCN5A_uc021wvq.1_Silent_p.G1261G|SCN5A_uc021wvr.1_Silent_p.G1262G|SCN5A_uc021wvs.1_Silent_p.G1262G|SCN5A_uc021wvt.1_Silent_p.G1261G|SCN5A_uc021wvu.1_Silent_p.G1208G|SCN5A_uc021wvv.1_Silent_p.G1262G|SCN5A_uc021wvj.1_Silent_p.G1074G|SCN5A_uc021wvi.1_Silent_p.G1128G|SCN5A_uc021wvw.1_Silent_p.G872G	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1262			G -> S (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ACTTCTTGAAGCCGTAGGCCA	0.532000														138			14		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49445619	49445619	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49445619G>A	uc001rta.4	-	9	1847	c.1847C>T	c.(1846-1848)cCc>cTc	p.P616L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	616	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGGGGAAAGGGGAGACTCCTC	0.602000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				70			17		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506752	37506752	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:37506752G>A	uc021ppc.1	+	32	3144	c.3045G>A	c.(3043-3045)caG>caA	p.Q1015Q	ANKRD30A_uc001iza.1_Silent_p.Q1015Q	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1071						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACTTGAACAGGCTCTCAGAA	0.294000														33			33		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064875	7064875	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7064875C>T	uc001mfb.1	+	3	1941	c.1618C>T	c.(1618-1620)Cga>Tga	p.R540*		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	540					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAATGAAGATCGAGTAAAACA	0.348000														89			31		0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87636167	87636167	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:87636167G>A	uc004aoa.1	+	20	3222	c.2284_splice	c.e20-1	p.V762_splice	NTRK2_uc004anz.1_Splice_Site_p.V778_splice	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	762	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CTCCATCCAGGTGATAGAGTG	0.527000										TSP Lung(25;0.17)				21			4		0	0	1	0	0
ICAM3	3385	broad.mit.edu	37	19	10449579	10449579	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10449579G>A	uc002mob.2	-	1	177	c.122C>T	c.(121-123)cCt>cTt	p.P41L	ICAM3_uc010dxd.1_5'UTR|ICAM3_uc010xlf.1_Intron	NM_002162	NP_002153	P32942	ICAM3_HUMAN	Homo sapiens intercellular adhesion molecule 3 (ICAM3), mRNA.	41					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			AGAGAGCACAGGGTTCTGGGG	0.552000														63			19		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402247	89402247	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89402247C>T	uc010upo.1	+	11	6805	c.6431C>T	c.(6430-6432)tCc>tTc	p.S2144F	ACAN_uc010upp.1_Missense_Mutation_p.S2144F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2144					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)			CTTGAGAGATCCTCTGGCCTA	0.572000														145			28		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755639	10755639	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10755639G>A	uc003wtk.1	-	2	1776	c.1749C>T	c.(1747-1749)ccC>ccT	p.P583P		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	583						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TCTTAATGAGGGGCCCTTCTG	0.512000														39			13		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34640665	34640665	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34640665C>T	uc010ucc.2	+	2	978	c.596C>T	c.(595-597)cCc>cTc	p.P199L	C15orf55_uc010ucd.2_Missense_Mutation_p.P189L|C15orf55_uc001zif.3_Missense_Mutation_p.P171L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	171						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CAACTGGTCCCCATTGTGCCC	0.602000			T	"""BRD3, BRD4"""	lethal midline carcinoma									30			14		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566681	4566681	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4566681C>T	uc010qyf.2	+	0	261	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGAATCTTCTGGTTCGGTG	0.512000														78			23		0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64815823	64815823	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64815823C>T	uc001ocn.3	-	8	1249	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A	NAALADL1_uc010rnw.2_5'UTR|NAALADL1_uc009ypz.3_Non-coding_Transcript	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	411	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CCCCCCAGCTCGCAAACACGA	0.582000														99			9		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74536339	74536339	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74536339C>T	uc002axo.3	+	1	429	c.35C>T	c.(34-36)cCa>cTa	p.P12L		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	215							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACTGAAGACCCAGAGGAGCCC	0.557000														153			20		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9052063	9052063	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:9052063G>A	uc003jek.2	-	19	3479	c.2767C>T	c.(2767-2769)Ctg>Ttg	p.L923L		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	923	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATGGGGAACAGGAGGATGCAC	0.587000														38			14		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890497	139890497	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:139890497C>T	uc003yvd.3	-	2	601	c.154G>A	c.(154-156)Gag>Aag	p.E52K		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	52	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCAAAGTCCTCCTTGCCCACG	0.637000										HNSCC(7;0.00092)				12			5		0	0	1	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652443	234652443	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234652443C>T	uc002vuz.3	-	0	219	c.120G>A	c.(118-120)gaG>gaA	p.E40E	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	40	J.				protein folding		heat shock protein binding|unfolded protein binding										TCTCCGCTTCCTCCTTGTTCT	0.622000														175			82		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34003955	34003955	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:34003955G>A	uc003oir.4	-	7	2295	c.1932C>T	c.(1930-1932)atC>atT	p.I644I	GRM4_uc011dsn.2_Silent_p.I597I|GRM4_uc010jvh.3_Silent_p.I644I|GRM4_uc010jvi.3_Silent_p.I336I|GRM4_uc003oio.3_Silent_p.I336I|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.I504I|GRM4_uc003oiq.3_Silent_p.I511I|GRM4_uc011dsm.2_Silent_p.I475I	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	644					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CGGGCTCAGCGATCATGAGGA	0.602000														38			20		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26885831	26885831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:26885831C>T	uc003jgs.1	-	10	1943	c.1774G>A	c.(1774-1776)Gat>Aat	p.D592N	CDH9_uc011cnv.1_Missense_Mutation_p.D185N	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	592	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D592N(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCTTGATTATCGCAGGCACAC	0.478000														19			9		0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56271342	56271342	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56271342G>A	uc002ivq.3	+	4	602	c.483G>A	c.(481-483)ggG>ggA	p.G161G		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	161					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.G161G(2)|p.G161R(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCTTGCTAGGGGCCTCCAACC	0.667000														40			15		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	408507	408507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:408507G>A	uc001ifp.3	-	21	2807	c.2717C>T	c.(2716-2718)tCt>tTt	p.S906F	DIP2C_uc009xhi.1_Missense_Mutation_p.S292F|DIP2C_uc010pzz.1_Missense_Mutation_p.S227F	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	906						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGGGTGCAGAGAGCCCTCCAG	0.542000														88			16		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37333917	37333917	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37333917G>A	uc003aqa.4	+	13	2284	c.2067G>A	c.(2065-2067)aaG>aaA	p.K689K	CSF2RB_uc003aqc.4_Silent_p.K695K	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	689					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGGACCAAAAGGACAGCCCTG	0.637000														40			5		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6239766	6239766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:6239766C>T	uc002kmz.4	-	8	818	c.658G>A	c.(658-660)Gat>Aat	p.D220N	L3MBTL4_uc002kmy.4_Missense_Mutation_p.D220N|L3MBTL4_uc010dkt.3_Missense_Mutation_p.D220N	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	220					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				AGTAAGCGATCTTCAACAATA	0.403000														110			13		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13735280	13735280	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13735280C>T	uc003jfd.2	-	67	11763	c.11721G>A	c.(11719-11721)agG>agA	p.R3907R	DNAH5_uc003jfc.2_Silent_p.R75R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3907					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)					TGACTCGGTTCCTCTGGATGT	0.438000									Kartagener syndrome					86			8		0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56638911	56638912	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56638911_56638912GG>AA	uc001skm.4	-	21	2557_2558	c.2467_2468CC>TT	c.(2467-2469)ccc>TTc	p.P823F		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	823							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGGAGTGAAGGGGTTTCCTTCC	0.510000														157			10		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21318838	21318838	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:21318838G>A	uc021tss.1	+	2	554	c.184G>A	c.(184-186)Gag>Aag	p.E62K	KCNJ18_uc002gyv.1_Missense_Mutation_p.E62K|KCNJ18_uc021tst.1_Missense_Mutation_p.E62K	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	62						integral to membrane	inward rectifier potassium channel activity										CAACATGGACGAGAAGTCACA	0.592000														41			13		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62586953	62586953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62586953C>T	uc001dab.3	+	37	5105	c.4991C>T	c.(4990-4992)tCc>tTc	p.S1664F	INADL_uc001dac.3_Non-coding_Transcript|INADL_uc009wag.3_Missense_Mutation_p.S448F	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1664					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TCAGATCCTTCCCAGAAAAAT	0.423000														73			28		0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132307179	132307179	+	Missense_Mutation	SNP	C	T	T	rs148167692		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:132307179C>T	uc010sck.2	-	3	651	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	OPCML_uc001qgu.3_Missense_Mutation_p.E194K|OPCML_uc001qgs.3_Missense_Mutation_p.E201K|OPCML_uc001qgt.3_Missense_Mutation_p.E200K|OPCML_uc010scl.2_Missense_Mutation_p.E160K	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	201	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.E201K(4)|p.E201Q(2)|p.E194Q(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GCGCTGCATTCGTACTCCCCG	0.532000														63			11		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101389	168101389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:168101389C>T	uc002udx.3	+	8	3576	c.3487C>T	c.(3487-3489)Cgt>Tgt	p.R1163C	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R988C|XIRP2_uc010fpq.3_Missense_Mutation_p.R941C|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	988					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGGGGATGTTCGTACAGCATG	0.403000														81			17		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47608979	47608979	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47608979G>A	uc001cqv.1	+	4	600	c.549G>A	c.(547-549)ctG>ctA	p.L183L	CYP4A22_uc009vyo.3_Silent_p.L183L|CYP4A22_uc009vyp.3_Silent_p.L183L	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	183						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATTCCCCTCTGGAGGTCTTTC	0.547000														63			25		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39495058	39495059	+	Missense_Mutation	DNP	GT	AC	AC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39495058_39495059GT>AC	uc003xni.3	+	8	718_719	c.663_664GT>AC	c.(661-666)atgttt>atACtt	p.221_222MF>IL	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.197_198MF>IL	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	221	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATTTTTAGATGTTTACCCAGTT	0.292000														35			10		0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63967960	63967960	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:63967960C>T	uc003dlv.3	+	6	1404	c.851C>T	c.(850-852)tCc>tTc	p.S284F	ATXN7_uc003dlw.4_Missense_Mutation_p.S284F|ATXN7_uc021wzy.1_Missense_Mutation_p.S284F|ATXN7_uc011bfn.2_Missense_Mutation_p.S139F	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	284					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		ACTGTGAGTTCCTTAGTCAAG	0.517000														66			9		0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121823712	121823712	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:121823712C>T	uc010mdg.3	-	0	598	c.372G>A	c.(370-372)ggG>ggA	p.G124G	SNTB1_uc003ype.3_Silent_p.G124G	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	124	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGATGCTGATCCCCAGCCCGC	0.637000														31			15		0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109937499	109937499	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:109937499C>T	uc001top.3	+	11	1605	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	UBE3B_uc001toq.3_Silent_p.F334F|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Silent_p.F334F	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	334					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CAGATGGGTTCGTGAGTTTGC	0.557000														36			8		0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9488924	9488924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:9488924C>T	uc003brt.3	+	13	2150	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L	SETD5_uc003brs.1_Missense_Mutation_p.S553L|SETD5_uc003bru.3_Missense_Mutation_p.S474L|SETD5_uc003brv.3_Missense_Mutation_p.S461L|SETD5_uc010hck.3_Missense_Mutation_p.S54L|SETD5_uc003brx.3_Missense_Mutation_p.S241L	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	572										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AACTCTGTTTCAAATGTTACC	0.458000														139			61		0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4833673	4833673	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:4833673C>T	uc002cxq.3	-	5	871	c.607G>A	c.(607-609)Gag>Aag	p.E203K	SEPT12_uc002cxr.3_Missense_Mutation_p.E157K|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	203					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GCCTCTCGCTCCTCCATGGTC	0.687000														46			26		0	0	1	0	0
NT5E	4907	broad.mit.edu	37	6	86181095	86181095	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:86181095G>A	uc003pko.4	+	2	1259	c.703G>A	c.(703-705)Ggt>Agt	p.G235S	NT5E_uc003pkn.3_Missense_Mutation_p.G235S|NT5E_uc010kbr.3_Missense_Mutation_p.G235S	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	235					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	GAAAGTGAGGGGTGTGGACGT	0.423000														48			26		0	0	1	0	0
PI4KAP2	375133	broad.mit.edu	37	22	21841891	21841891	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:21841891G>A	uc002zuv.4	-	2	2611	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C	PI4KAP2_uc002zuw.3_Non-coding_Transcript|PI4KAP2_uc011aid.2_Non-coding_Transcript|PI4KAP2_uc011aie.1_Missense_Mutation_p.R118C|PI4KAP2_uc011aif.1_Intron|PI4KAP2_uc002zux.2_Missense_Mutation_p.R118C					Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 (PI4KAP2), non-coding RNA.											endometrium(3)|urinary_tract(1)	4						ATCTTCTCGCGAAGCACATTG	0.607000														28			9		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14880842	14880842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:14880842G>A	uc003ssz.3	-	0	234	c.47C>T	c.(46-48)tCc>tTc	p.S16F	DGKB_uc011jxt.2_Missense_Mutation_p.S16F|DGKB_uc003sta.3_Missense_Mutation_p.S16F|DGKB_uc011jxu.2_Missense_Mutation_p.S16F|DGKB_uc011jxv.1_Missense_Mutation_p.S16F	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	16					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|protein binding	p.F15C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CTGAAGTTGGGAAAATTCCGA	0.368000														15			6		0	0	1	0	0
ASAH2	56624	broad.mit.edu	37	10	52003004	52003004	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:52003004G>A	uc001jjd.3	-	2	468	c.468C>T	c.(466-468)gtC>gtT	p.V156V	ASAH2_uc009xos.3_Silent_p.V156V	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA.	156					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						TGTCGATGCTGACAAACACTG	0.473000														173			68		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45799080	45799080	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45799080G>A	uc010gpt.1	+	8	1315	c.1215_splice	c.e8+1	p.K405_splice	TRPM2_uc002zet.1_Splice_Site_p.K405_splice|TRPM2_uc002zeu.1_Splice_Site_p.K405_splice|TRPM2_uc021wjr.1_Splice_Site|TRPM2_uc002zew.1_Splice_Site_p.K405_splice|TRPM2_uc002zex.1_Splice_Site_p.K191_splice	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	405						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGACCAAAAAGGTGAGGCTGA	0.557000														51			23		0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22705588	22705588	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:22705588G>A	uc001iri.3	+	10	1668	c.1501G>A	c.(1501-1503)Gtg>Atg	p.V501M	SPAG6_uc010qct.2_Missense_Mutation_p.V476M|SPAG6_uc009xkh.3_3'UTR|SPAG6_uc001irj.3_Missense_Mutation_p.G452D|SPAG6_uc021poe.1_Missense_Mutation_p.V227M	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	501					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TCTGCAGAGGGTGGACAGCTA	0.358000														107			39		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115221019	115221019	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:115221019C>T	uc001efe.2	-	7	1174	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	AMPD1_uc001eff.2_Missense_Mutation_p.E372K	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	343	Substrate binding (By similarity).				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.N376N(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)	Adenosine monophosphate(DB00131)	GCAAAAAGTTCCTTTAGGGTC	0.378000														118			50		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958475	143958475	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:143958475C>T	uc010mey.3	-	4	779	c.772G>A	c.(772-774)Gac>Aac	p.D258N	CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Missense_Mutation_p.D187N|CYP11B1_uc003yxj.3_Missense_Mutation_p.D187N	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	187					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-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)				Mitotane(DB00648)	GGCTGGACGTCCAGGGTCAGG	0.637000									Familial Hyperaldosteronism type I					19			9		0	0	1	0	0
CXCR3	2833	broad.mit.edu	37	X	70836294	70836294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:70836294C>T	uc022bys.1	-	0	1169	c.1169G>A	c.(1168-1170)gGg>gAg	p.G390E	BCYRN1_uc011mpt.1_Intron|CXCR3_uc004eaf.3_Missense_Mutation_p.G343E|CXCR3_uc011mpx.2_Missense_Mutation_p.G390E	NM_001142797	NP_001136269	P49682	CXCR3_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 3 (CXCR3), transcript variant 2, mRNA.	343					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					CCTCTGGAGCCCTCTCTGGTT	0.637000														13			5		0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47228866	47228866	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47228866G>A	uc002pfm.3	-	9	1342	c.1309C>T	c.(1309-1311)Ccc>Tcc	p.P437S	STRN4_uc002pfl.3_Missense_Mutation_p.P430S|STRN4_uc010xyf.2_Non-coding_Transcript|STRN4_uc010xyg.1_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	430						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GTGAACTTGGGGTTCCACGTC	0.602000														39			14		0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78717428	78717428	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:78717428G>A	uc003dqe.2	-	12	1863	c.1655C>T	c.(1654-1656)cCa>cTa	p.P552L	ROBO1_uc003dqc.2_Missense_Mutation_p.P516L|ROBO1_uc003dqd.2_Missense_Mutation_p.P516L|ROBO1_uc003dqb.2_Missense_Mutation_p.P513L|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Missense_Mutation_p.P124L|ROBO1_uc003dqf.1_Missense_Mutation_p.P231L	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	552					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGTAGGTCTTGGAGGCTGAAC	0.388000														114			39		0	0	1	0	0
ATP5F1	515	broad.mit.edu	37	1	111996918	111996918	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111996918C>T	uc009wgf.1	+	3	620	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	ATP5F1_uc001ebc.3_Missense_Mutation_p.R55C	NM_001688	NP_001679	P24539	AT5F1_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 (ATP5F1), nuclear gene encoding mitochondrial protein, mRNA.	55					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding	p.R55C(1)		breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGAAAAGTTCGTTATGGACT	0.438000														97			50		0	0	1	0	0
SF3A1	10291	broad.mit.edu	37	22	30742481	30742481	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:30742481G>A	uc003ahl.3	-	2	345	c.213C>T	c.(211-213)atC>atT	p.I71I	SF3A1_uc021wnt.1_Silent_p.I71I	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	71					nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CGTTCTGTCGGATCCTAGCTT	0.483000														92			44		0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84213612	84213612	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84213612G>A	uc002fhn.3	-	12	1881	c.1639C>T	c.(1639-1641)Cct>Tct	p.P547S	TAF1C_uc010vnz.2_Missense_Mutation_p.P215S|TAF1C_uc002fho.3_Missense_Mutation_p.P70S|TAF1C_uc010voa.2_Missense_Mutation_p.P215S|TAF1C_uc002fhm.3_Missense_Mutation_p.P453S|TAF1C_uc010vnx.2_Missense_Mutation_p.P521S|TAF1C_uc010vny.2_Missense_Mutation_p.P138S	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	547					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TCCAGCAGAGGAAATGCAGGG	0.652000														25			16		0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71036968	71036968	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:71036968G>A	uc003xyn.1	-	19	4211	c.4049C>T	c.(4048-4050)cCc>cTc	p.P1350L	NCOA2_uc011lfb.1_Missense_Mutation_p.P438L	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	1350					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATGTCGGAGGGGGCCTGATA	0.562000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									52			8		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682029	69682029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69682029G>A	uc003hee.3	+	0	317	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	UGT2B10_uc011cam.2_Missense_Mutation_p.E98K	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	98					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.S97P(1)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAGATTGTCAGAAATTCAAAA	0.313000														94			37		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117849481	117849481	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117849481C>T	uc004bjj.4	-	2	941	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	TNC_uc010mvf.3_Missense_Mutation_p.E177K|TNC_uc022bmj.1_Missense_Mutation_p.E177K	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	177	EGF-like 1; incomplete.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.C176C(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGCCAGGTTCGCAGACACAG	0.582000														79			26		0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	858969	858969	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:858969C>T	uc003gbm.4	-	22	3306	c.3107G>A	c.(3106-3108)gGa>gAa	p.G1036E	GAK_uc003gbn.4_Missense_Mutation_p.G957E|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.G889E	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	1036					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGCAGCCCATCCTCCCAGCAG	0.632000														32			24		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660736	77660736	+	Silent	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77660736A>T	uc011cbx.2	+	4	2363	c.1410A>T	c.(1408-1410)gtA>gtT	p.V470V	SHROOM3_uc011cbz.1_Silent_p.V294V|SHROOM3_uc003hkf.1_Silent_p.V345V|SHROOM3_uc003hkg.3_Silent_p.V248V	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	470					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCTACCCGGTACCTTCCCTGG	0.577000														76			29		0	0	1	0	0
CCDC134	79879	broad.mit.edu	37	22	42209433	42209433	+	Missense_Mutation	SNP	C	T	T	rs148694139		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:42209433C>T	uc003bbh.1	+	4	585	c.476C>T	c.(475-477)tCg>tTg	p.S159L	bK250D10.C22.8_uc003bba.1_Intron|CCDC134_uc011apg.1_Intron	NM_024821	NP_079097	Q9H6E4	CC134_HUMAN	Homo sapiens coiled-coil domain containing 134 (CCDC134), mRNA.	159						extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						GGGCCCCACTCGCCCATCCTC	0.587000														43			18		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38798333	38798333	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38798333C>T	uc003ciq.3	-	8	1122	c.1122G>A	c.(1120-1122)atG>atA	p.M374I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	374					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAAAAAAGATCATATAGATTT	0.473000														89			36		0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25150797	25150797	+	Missense_Mutation	SNP	G	A	A	rs142590557		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25150797G>A	uc003abd.1	-	6	1144	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	PIWIL3_uc011ajx.1_Missense_Mutation_p.R134C|PIWIL3_uc010gut.1_Missense_Mutation_p.R243C|PIWIL3_uc011ajy.1_Missense_Mutation_p.R134C	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	243					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	p.R243C(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAATAGTTGCGACCAACTTGT	0.348000														98			32		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106725467	106725467	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106725467C>T	uc021ser.1	-	927		c.22045G>A								Parts of antibodies, mostly variable regions.																		TGTACCAAGCCTCCCCCAGAC	0.562000														221			59		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55294968	55294968	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55294968G>A	uc010erz.1	+	7	964	c.926G>A	c.(925-927)gGa>gAa	p.G309E	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc010yfl.2_5'Flank|KIR3DL2_uc021vbm.1_5'Flank|KIR2DL1_uc010erw.1_Missense_Mutation_p.G284E|KIR2DL1_uc002qgz.1_Missense_Mutation_p.G193E|KIR2DL1_uc002qhb.1_Missense_Mutation_p.G283E	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	283					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.C308C(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GAGTCTGCAGGAAACAGAACA	0.517000														119			45		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91795689	91795689	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:91795689C>T	uc002bqv.3	+	4	1614	c.723C>T	c.(721-723)atC>atT	p.I241I	SV2B_uc002bqt.3_Silent_p.I241I|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.I90I	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	241					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGCTGGGCATCTTCTGGATGA	0.532000														76			29		0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48035011	48035011	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:48035011G>A	uc003gxw.3	+	4	437	c.371_splice	c.e4-1	p.M124_splice		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	124						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						GCTTTCTAGTGGGAGCAGGAG	0.428000														44			12		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33134870	33134870	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33134870C>T	uc003ocx.1	-	57	4435	c.4207G>A	c.(4207-4209)Gat>Aat	p.D1403N	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.D1317N|COL11A2_uc003ocz.1_Missense_Mutation_p.D1296N	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1403	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCTCCAGCATCGCCCCGGAGA	0.612000														68			8		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97082687	97082687	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:97082687G>A	uc004aup.1	-	4	1192	c.1171C>T	c.(1171-1173)Ccc>Tcc	p.P391S		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	391	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				ACTTCAGGGGGGATCTCCTCA	0.662000														70			46		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53883852	53883852	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:53883852G>A	uc003pcf.2	+	0	139	c.26G>A	c.(25-27)aGa>aAa	p.R9K	MLIP_uc003pcg.4_Missense_Mutation_p.R9K	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	9	Interaction with LMNA.					PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CGTGAAAAAAGAAGCTTATTA	0.363000														39			15		0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10231363	10231363	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:10231363C>T	uc021ogc.1	+	25	4342	c.3654C>T	c.(3652-3654)ttC>ttT	p.F1218F	UBE4B_uc001aqs.4_Silent_p.F1167F|UBE4B_uc001aqr.4_Silent_p.F1038F|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.F622F|UBE4B_uc001aqu.3_Silent_p.F48F	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	1167					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GTGCTCGGTTCGCGAAAGCCA	0.478000														115			52		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77973147	77973147	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:77973147C>T	uc003ugx.3	-	8	1610	c.1356G>A	c.(1354-1356)gtG>gtA	p.V452V	MAGI2_uc003ugy.3_Silent_p.V452V|MAGI2_uc010ldx.1_Silent_p.V61V|MAGI2_uc010ldy.1_Silent_p.V61V|MAGI2_uc011kgr.1_Silent_p.V284V|MAGI2_uc011kgs.1_Silent_p.V289V	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	452	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding	p.Q451Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCACACTTTTCACCTGCAGAA	0.438000														61			25		0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237037098	237037099	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:237037098_237037099CC>TT	uc001hyi.4	+	22	2854_2855	c.2431_2432CC>TT	c.(2431-2433)cca>TTa	p.P811L	MTR_uc010pxw.2_Missense_Mutation_p.P404L|MTR_uc010pxx.2_Missense_Mutation_p.P760L|MTR_uc010pxy.2_Missense_Mutation_p.P665L	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	811	B12-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGTCATGACTCCATGTGATAAG	0.376000														85			27		0	0	1	0	0
FAM178A	55719	broad.mit.edu	37	10	102676652	102676652	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:102676652C>T	uc001krs.3	+	2	1052	c.510C>T	c.(508-510)tcC>tcT	p.S170S	FAM178A_uc001krr.1_Silent_p.S170S|FAM178A_uc001krt.4_Silent_p.S170S|FAM178A_uc001kru.1_Silent_p.S106S	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	170																	AACATCGATCCCCAGAGAGAA	0.388000														53			22		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89924433	89924433	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89924433G>A	uc003kju.3	+	7	1389	c.1293G>A	c.(1291-1293)gcG>gcA	p.A431A	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	431					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGTCTCTGCGAATTGGGTGT	0.418000														69			20		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536064	69536064	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69536064C>T	uc021xow.1	-	0	431	c.273G>A	c.(271-273)ctG>ctA	p.L91L		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	91					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CGAGAATTTTCAGAAGAGAAT	0.294000														105			43		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880876	70880876	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:70880876G>A	uc003tvy.3	+	4	590	c.590_splice	c.e4-1	p.E197_splice	WBSCR17_uc003tvz.3_Splice_Site	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	197	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CATTTGCAGAGGAGCTGAAGG	0.483000														34			11		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004631	75004631	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:75004631C>T	uc004ecj.2	-	0	449	c.256G>A	c.(256-258)Gac>Aac	p.D86N		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	86										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCTAGAGGGTCATGGACCCTG	0.547000														24			18		0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75387345	75387345	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:75387345C>T	uc004aiz.1	+	12	1298	c.758C>T	c.(757-759)tCc>tTc	p.S253F	TMC1_uc010moz.1_Missense_Mutation_p.S211F|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.S107F|TMC1_uc010mpa.1_Missense_Mutation_p.S107F	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	253					sensory perception of sound	integral to membrane		p.S253S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GCACAATATTCCGTTCTCTTT	0.383000														260			27		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961846	34961846	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:34961846C>T	uc004ddi.2	+	0	934	c.898C>T	c.(898-900)Cct>Tct	p.P300S		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	300	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCCGGAGCCTCCTGAGACTGG	0.632000														27			48		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761127	92761127	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92761127G>A	uc003umh.1	-	4	5374	c.4158C>T	c.(4156-4158)gcC>gcT	p.A1386A	SAMD9L_uc003umj.1_Silent_p.A1386A|SAMD9L_uc003umi.1_Silent_p.A1386A|SAMD9L_uc010lfb.1_Silent_p.A1386A|SAMD9L_uc003umk.1_Silent_p.A1386A|SAMD9L_uc010lfc.1_Silent_p.A1386A|SAMD9L_uc010lfd.1_Silent_p.A1386A|SAMD9L_uc022ahh.1_Silent_p.A1386A	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1386										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GAATAATGTTGGCCAAAATGG	0.383000														251			17		0	0	1	0	0
TSKU	25987	broad.mit.edu	37	11	76506753	76506753	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:76506753C>T	uc021qno.1	+	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F	TSKU_uc001oxt.3_Silent_p.F31F	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	31	LRRNT.					extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TGGAGACCTTCGGCCTTTTCG	0.672000														61			7		0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33696189	33696190	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:33696189_33696190CC>TT	uc010edh.3	+	4	606_607	c.513_514CC>TT	c.(511-516)ttccgc>ttTTgc	p.R172C	LRP3_uc010xrp.1_Missense_Mutation_p.R46C|LRP3_uc002nuk.4_Missense_Mutation_p.R46C	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	172	LDL-receptor class A 1.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CAGATGAGTTCCGCTGTGACAA	0.663000														10			3		0	0	1	0	0
DEFA4	1669	broad.mit.edu	37	8	6793654	6793654	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:6793654C>T	uc003wqu.1	-	2	233	c.182G>A	c.(181-183)aGg>aAg	p.R61K		NM_001925	NP_001916	P12838	DEF4_HUMAN	Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.	61					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GACCATGCCCCTTGTTGAGCC	0.517000														47			9		0	0	1	0	0
WNT11	7481	broad.mit.edu	37	11	75902850	75902850	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:75902850G>A	uc001oxe.3	-	3	771	c.648C>T	c.(646-648)ggC>ggT	p.G216G	WNT11_uc001oxf.1_Silent_p.G216G	NM_004626	NP_004617	O96014	WNT11_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.	216					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|Ras GTPase activator activity|protein kinase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						TGGAGCAGGAGCCAGACACCC	0.642000														51			18		0	0	1	0	0
ASTE1	28990	broad.mit.edu	37	3	130743962	130743962	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130743962G>A	uc010htm.1	-	2	396	c.189C>T	c.(187-189)ttC>ttT	p.F63F	NEK11_uc003enx.3_5'Flank|NEK11_uc003eny.3_5'Flank|NEK11_uc003eoa.3_5'Flank|NEK11_uc003enz.3_5'Flank|NEK11_uc011blk.2_5'Flank|NEK11_uc011bll.2_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.2_5'Flank|ASTE1_uc003env.1_Silent_p.F63F|ASTE1_uc011blj.1_Non-coding_Transcript	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	Homo sapiens asteroid homolog 1 (Drosophila) (ASTE1), mRNA.	63					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GTGATTCAAAGAATTTTTGTA	0.363000														98			12		0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32459583	32459583	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:32459583C>T	uc010dmn.1	+	18	1982	c.1981C>T	c.(1981-1983)Ccc>Tcc	p.P661S	DTNA_uc002kxw.2_Missense_Mutation_p.P604S|DTNA_uc002kxz.2_Missense_Mutation_p.P608S|DTNA_uc002kxy.2_Missense_Mutation_p.P601S|DTNA_uc010dmj.3_Missense_Mutation_p.P601S|DTNA_uc010xby.1_Missense_Mutation_p.P351S|DTNA_uc002kye.3_Missense_Mutation_p.P309S|DTNA_uc010xca.2_Missense_Mutation_p.P313S|DTNA_uc010xbz.2_Missense_Mutation_p.P370S	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	661					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GGATCTTGTTCCCTCACCAAC	0.448000														49			12		0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37741779	37741779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:37741779C>T	uc002yvi.3	+	14	2189	c.2113C>T	c.(2113-2115)Ctt>Ttt	p.L705F		NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	705					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	PML body|aggresome|intermediate filament cytoskeleton	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CCAGCTACTCCTTGTCACTGA	0.378000														76			25		0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62782792	62782792	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62782792G>A	uc002jew.4	-	9	2288	c.1377C>T	c.(1375-1377)gcC>gcT	p.A459A	PLEKHM1P_uc002jev.3_Non-coding_Transcript					Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene (PLEKHM1P), non-coding RNA.																		CATGCTGGGAGGCAAATTCAA	0.542000														20			5		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28968393	28968393	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28968393C>T	uc002kwr.2	+	3	415	c.280C>T	c.(280-282)Cga>Tga	p.R94*	DSG4_uc002kwq.2_Nonsense_Mutation_p.R94*	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	94	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGGATTGATCGACCACCATA	0.408000														64			16		0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27390186	27390186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:27390186G>A	uc001mrj.4	-	17	2569	c.2084C>T	c.(2083-2085)cCa>cTa	p.P695L	LGR4_uc001mrk.4_Missense_Mutation_p.P671L	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	695						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TGTAGGAAATGGCAAACAAAG	0.428000														84			20		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54803019	54803019	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54803019G>A	uc002qfd.3	-	3	750	c.658C>T	c.(658-660)Cca>Tca	p.P220S	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	219	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCTCACCTGGGACCAGGAGC	0.612000														101			35		0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39602432	39602432	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:39602432G>A	uc001uwy.3	-	4	1174	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	PROSER1_uc001uwz.3_Missense_Mutation_p.R79C	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	101																	TCAATAGGACGAGAATTCTGT	0.338000														24			12		0	0	1	0	0
CDKL2	8999	broad.mit.edu	37	4	76530724	76530724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:76530724G>A	uc011cbp.2	-	4	1162	c.637C>T	c.(637-639)Cat>Tat	p.H213Y	CDKL2_uc003hiq.3_Missense_Mutation_p.H213Y|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	213	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATCATAATATGATATAGCTGA	0.368000														68			5		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41161795	41161795	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41161795C>T	uc003jmk.2	-	10	1668	c.1458_splice	c.e10+1	p.E486_splice	C6_uc003jml.1_Splice_Site_p.E486_splice	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	486	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				TTACTCTTACCTCAAAGTCAA	0.398000														92			25		0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38229537	38229537	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38229537G>A	uc002ohe.3	-	4	1923	c.1854C>T	c.(1852-1854)gcC>gcT	p.A618A	ZNF573_uc010efs.2_Silent_p.A531A|ZNF573_uc002ohd.3_Silent_p.A616A|ZNF573_uc002ohf.3_Silent_p.A560A|ZNF573_uc002ohg.3_Silent_p.A530A|ZNF573_uc021utv.1_Silent_p.A530A	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			CACGACTGAAGGCCTTCCCAC	0.403000														102			22		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6711072	6711072	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6711072C>T	uc002mfm.3	-	11	1467	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	469			E -> D (in dbSNP:rs11569422).		G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TTGAGGGTCTCCCCGGGTCTG	0.602000														199			26		0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64873562	64873562	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:64873562G>A	uc010wqi.2	+	1	349	c.112G>A	c.(112-114)Gag>Aag	p.E38K	CACNG5_uc010wqj.2_Missense_Mutation_p.E38K	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	38					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GTACCTGGAGGAGGGTGTGAT	0.622000														73			22		0	0	1	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246231	145246231	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:145246231G>A	uc003lns.1	-	1	397	c.397C>T	c.(397-399)Cga>Tga	p.R133*		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	133								p.R133*(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						ATTGGGGTTCGAATGATTTTC	0.398000														88			36		0	0	1	0	0
TBPL2	387332	broad.mit.edu	37	14	55903341	55903341	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:55903341G>A	uc001xby.3	-	1	546	c.546C>T	c.(544-546)tcC>tcT	p.S182S		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	182					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TGGGAGTTATGGATGCCAGAG	0.438000														73			42		0	0	1	0	0
OTX1	5013	broad.mit.edu	37	2	63282749	63282749	+	Silent	SNP	C	T	T	rs75832508		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:63282749C>T	uc021vim.1	+	4	639	c.363C>T	c.(361-363)tcC>tcT	p.S121S	OTX1_uc002scd.3_Silent_p.S121S|OTX1_uc010ypt.2_Silent_p.S55S	NM_001199770	NP_001186699	P32242	OTX1_HUMAN	Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA.	121						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GCTCGGGCTCCGAAAGCAGTG	0.672000														79			9		0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247694899	247694899	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247694899C>T	uc021pmb.1	-	0	915	c.915G>A	c.(913-915)atG>atA	p.M305I	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.M305I	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TCTCTAATACCATGTGCCGGA	0.507000														48			18		0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154105	5154105	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:5154105C>T	uc001qni.3	+	0	1021	c.792C>T	c.(790-792)atC>atT	p.I264I		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	264						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TCATCTCCATCATCACCTTCT	0.647000														147			20		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113283288	113283288	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113283288G>A	uc001pnz.3	-	5	1449	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	DRD2_uc010rwv.2_Silent_p.A375A|DRD2_uc001poa.4_Silent_p.A376A|DRD2_uc001pob.4_Silent_p.A347A	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	376					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CGAGAACAATGGCGAGCATCT	0.582000														45			14		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169529932	169529932	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169529932G>A	uc001ggg.1	-	3	591	c.446C>T	c.(445-447)aCc>aTc	p.T149I	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	149	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCATTCATAGGTGTATTCTCG	0.507000														124			33		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1953644	1953644	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:1953644G>A	uc021qsx.1	-	24	2625	c.2394C>T	c.(2392-2394)ttC>ttT	p.F798F	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.F662F|CACNA2D4_uc009zdr.2_Non-coding_Transcript	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	798						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ACCACAGCGGGAAGCGGTCCA	0.612000														24			13		0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27436206	27436206	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27436206G>A	uc001bnm.3	-	2	1502	c.876C>T	c.(874-876)ttC>ttT	p.F292F	SLC9A1_uc010ofk.2_5'UTR|SLC9A1_uc001bnn.2_Silent_p.F292F	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	292					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGAAGCCGAGGAAGATGTCCA	0.612000														105			37		0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207107939	207107939	+	Missense_Mutation	SNP	C	T	T	rs141320420	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207107939C>T	uc001hez.3	-	5	1715	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	PIGR_uc009xbz.3_Missense_Mutation_p.E511K	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	511	Ig-like V-type 5.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTGGGGCCTTCGTCTTGGCTG	0.577000														88			46		0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43026533	43026533	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43026533T>C	uc001zql.3	-	6	1265	c.1148A>G	c.(1147-1149)aAc>aGc	p.N383S	CDAN1_uc001zqk.3_5'UTR|CDAN1_uc010bcx.1_Intron	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	383						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TTTGTCCAGGTTGGAAAGAAC	0.557000														43			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179449180	179449180	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179449180C>T	uc021vsy.1	-	259	57619	c.57394G>A	c.(57394-57396)Gaa>Aaa	p.E19132K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E12827K|TTN_uc021vta.1_Missense_Mutation_p.E12760K|TTN_uc021vtb.1_Missense_Mutation_p.E12635K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20059	Ig-like 108.						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)			CTGTTTCTTTCCTTGCGTTCA	0.443000														65			28		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172163094	172163094	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:172163094G>A	uc003fib.2	-	1	1001	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S	FJ355932_uc021xhj.1_5'Flank	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	320					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TACAGAATGGGGTTGATGGCA	0.502000														103			35		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161119180	161119180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:161119180G>A	uc003lyu.2	+	7	1398	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	GABRA6_uc003lyv.2_Missense_Mutation_p.E125K	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	354					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAAAGCTACTGAACCTTTGGA	0.413000										TCGA Ovarian(5;0.080)				94			29		0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71483628	71483628	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71483628C>T	uc002faf.3	-	5	1114	c.300G>A	c.(298-300)aaG>aaA	p.K100K	ZNF23_uc002fah.3_Silent_p.K100K|ZNF23_uc002fad.3_Silent_p.K42K|ZNF23_uc010vmf.2_Silent_p.K42K|ZNF23_uc002fag.3_Silent_p.K42K|ZNF23_uc002fai.3_Silent_p.K139K	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TGCTCTTCTCCTTCTTTATAT	0.408000														213			60		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18865907	18865907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:18865907C>T	uc021qvx.1	-	5	774	c.583G>A	c.(583-585)Gga>Aga	p.G195R	PLCZ1_uc001rdv.4_Missense_Mutation_p.G91R|PLCZ1_uc001rdw.4_Intron|PLCZ1_uc001rdu.1_5'UTR|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	195	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CAACGGCATCCTTTCACAAGG	0.358000														72			8		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	140990874	140990874	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:140990874C>T	uc002tvj.1	-	90	14653	c.13681G>A	c.(13681-13683)Gta>Ata	p.V4561I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4561					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.P4560L(1)|p.V4561E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTGCATATACCGGATTGGAG	0.323000										TSP Lung(27;0.18)				45			18		0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119736782	119736782	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:119736782G>A	uc003ici.4	-	4	769	c.497C>T	c.(496-498)cCt>cTt	p.P166L	SEC24D_uc003icj.4_Missense_Mutation_p.P166L|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	166	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TTGAGATCCAGGCTGCAAAAT	0.582000														50			18		0	0	1	0	0
C11orf70	85016	broad.mit.edu	37	11	101951951	101951951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:101951951G>A	uc001pgp.3	+	5	647	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	C11orf70_uc001pgq.3_Missense_Mutation_p.R167Q	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	205										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TTTAGTGTTCGAAAGAATCCT	0.299000														59			16		0	0	1	0	0
GLYR1	84656	broad.mit.edu	37	16	4861673	4861673	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:4861673G>A	uc002cxx.4	-	13	1450	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Silent_p.I385I|GLYR1_uc002cya.2_Silent_p.I465I|GLYR1_uc010uxv.1_Silent_p.I390I	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	471					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CCTGATTGAGGATGTCCAAGA	0.542000														35			8		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143961164	143961164	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:143961164C>T	uc010mey.3	-	0	73	c.66G>A	c.(64-66)caG>caA	p.Q22Q	CYP11B1_uc003yxi.3_Silent_p.Q22Q|CYP11B1_uc003yxj.3_Silent_p.Q22Q	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	22					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-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)				Mitotane(DB00648)	TGCCCAGTGCCTGTGCCCTTT	0.642000									Familial Hyperaldosteronism type I					98			48		0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19492780	19492780	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:19492780C>T	uc003cbk.1	+	9	1904	c.1709C>T	c.(1708-1710)tCt>tTt	p.S570F	KCNH8_uc011awe.1_3'UTR|KCNH8_uc010hex.1_Missense_Mutation_p.S31F|KCNH8_uc011awf.1_3'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	570						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATCAAAACCTCTTTCTGTGCT	0.502000														83			39		0	0	1	0	0
NTSR2	23620	broad.mit.edu	37	2	11809800	11809800	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:11809800G>A	uc002rbq.4	-	0	530	c.456C>T	c.(454-456)acC>acT	p.T152T		NM_012344	NP_036476	O95665	NTR2_HUMAN	Homo sapiens neurotensin receptor 2 (NTSR2), mRNA.	152					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CCAGCCACCGGGTCCGGCGTG	0.741000														6			4		0	0	1	0	0
C1orf150	148823	broad.mit.edu	37	1	247737658	247737658	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247737658G>A	uc001idf.3	+	4	529	c.382G>A	c.(382-384)Gat>Aat	p.D128N	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	128										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CCATGAGCATGATTATGAAGT	0.438000														72			32		0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53222763	53222763	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:53222763G>A	uc003dgl.3	+	15	1796	c.1443G>A	c.(1441-1443)ctG>ctA	p.L481L	PRKCD_uc003dgm.3_Silent_p.L481L	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	481	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		ATGTGCTGCTGGACCGGGATG	0.557000														62			44		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42693479	42693479	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42693479G>A	uc010ggo.3	+	5	982	c.942G>A	c.(940-942)cgG>cgA	p.R314R	TOX2_uc002xle.4_Silent_p.R272R|TOX2_uc010ggp.3_Silent_p.R272R|TOX2_uc002xlf.4_Intron|TOX2_uc010zwk.2_Silent_p.R192R	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CAGCCTACCGGGCTAGCCTCG	0.562000														105			31		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417399	150417399	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150417399C>T	uc003whq.3	+	2	447	c.307C>T	c.(307-309)Cac>Tac	p.H103Y	GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.H103Y	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GGAGAGAGGTCACTGCTACCT	0.642000														49			15		0	0	1	0	0
LRRC37A5P	652972	broad.mit.edu	37	9	114371455	114371455	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:114371455C>T	uc022bly.1	-	1		c.651G>A								Homo sapiens chromosome 9 open reading frame 29 (C9orf29), non-coding RNA.																		AGTCCGTCTTCAAGGTCCGGA	0.498000														126			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059450	9059450	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9059450G>A	uc002mkp.3	-	2	28200	c.27996C>T	c.(27994-27996)tcC>tcT	p.S9332S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9334	Ser-rich.|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						GGCCTGGGATGGATGTTCTGC	0.498000														130			37		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1515939	1515939	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:1515939G>A	uc003skn.2	-	37	5405	c.5304C>T	c.(5302-5304)tgC>tgT	p.C1768C		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1768					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)		CCCCACAGCAGCAGCTGAGCA	0.687000														11			4		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211192554	211192554	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:211192554C>T	uc001hib.2	-	5	773	c.603G>A	c.(601-603)gaG>gaA	p.E201E	KCNH1_uc001hic.2_Silent_p.E201E	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	201					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCTTTGGTGCCTCTTGCTTGT	0.433000														72			36		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21120147	21120147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:21120147C>T	uc001iqi.3	-	15	2046	c.1649G>A	c.(1648-1650)aGg>aAg	p.R550K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	550					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCAGATGTCCTCTTGGCTCG	0.388000														74			14		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154860056	154860056	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:154860056C>T	uc010hvr.1	+	11	1336	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	MME_uc003fab.1_Silent_p.F375F|MME_uc003fac.1_Silent_p.F375F|MME_uc003fad.1_Silent_p.F375F|MME_uc003fae.1_Silent_p.F375F	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	375					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.F375C(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CCTGGAGATTCATAATGGATC	0.398000														104			37		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45744123	45744123	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:45744123G>A	uc003tne.4	+	16	2743	c.2725G>A	c.(2725-2727)Gaa>Aaa	p.E909K		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	909					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AAAGCTCATGGAAAAAGACTT	0.502000														82			30		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45312480	45312480	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:45312480G>A	uc003bfn.3	-	3	395	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F	PHF21B_uc011aqk.2_Missense_Mutation_p.L70F|PHF21B_uc003bfm.3_5'UTR|PHF21B_uc011aql.2_Missense_Mutation_p.L82F|PHF21B_uc011aqm.1_Missense_Mutation_p.L70F	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	82							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GCAACGGGGAGGCTGTCTGGA	0.657000														53			32		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140768559	140768559	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140768559C>T	uc003lkc.2	+	0	1108	c.1108C>T	c.(1108-1110)Cgt>Tgt	p.R370C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	375	Cadherin 4.				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)			GCTCAAAGTCCGTGACAAGGA	0.398000														77			20		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123452725	123452725	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:123452725C>T	uc003ego.3	-	9	1400	c.1118G>A	c.(1117-1119)aGg>aAg	p.R373K	MYLK_uc011bjw.2_Missense_Mutation_p.R373K|MYLK_uc003egp.3_Missense_Mutation_p.R373K|MYLK_uc003egq.3_Missense_Mutation_p.R373K|MYLK_uc003egr.3_Missense_Mutation_p.R373K|MYLK_uc003egs.3_Missense_Mutation_p.R197K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	373					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.R373R(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGGAGCTGGCCTCTTCCTCTC	0.612000														103			38		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275491	114275491	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:114275491C>T	uc003ibe.4	+	37	5817	c.5717C>T	c.(5716-5718)cCt>cTt	p.P1906L	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.P1921L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1873	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCTGTTTCGCCTTCAGGCAAA	0.488000														67			22		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701434	192701434	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:192701434C>T	uc002utb.3	-	1	848	c.493G>A	c.(493-495)Gag>Aag	p.E165K		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	165						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GCAGGGATCTCATTTTCCTCC	0.468000														19			16		0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51696508	51696508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51696508C>T	uc001ryg.3	-	3	326	c.274G>A	c.(274-276)Gag>Aag	p.E92K	BIN2_uc009zlz.3_Missense_Mutation_p.E92K|BIN2_uc001ryh.3_5'UTR|BIN2_uc010sng.2_Missense_Mutation_p.E66K	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	92	BAR.					cytoplasm	protein binding	p.E92K(2)|p.S91S(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCGTCCCACTCGCTGCTGTAG	0.473000														182			69		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409647	130409647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:130409647C>T	uc004ewe.4	-	15	3287	c.3004G>A	c.(3004-3006)Gga>Aga	p.G1002R	IGSF1_uc004ewd.3_Missense_Mutation_p.G997R|IGSF1_uc022cdv.1_Missense_Mutation_p.G988R|IGSF1_uc004ewf.2_Missense_Mutation_p.G977R	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	997	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TATCCTACTCCATGGACCGGC	0.517000														31			52		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42295569	42295569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:42295569G>A	uc001uyj.3	-	24	2971	c.2901C>T	c.(2899-2901)gaC>gaT	p.D967D	KIAA0564_uc001uyk.3_Silent_p.D967D	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	967						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TAATCCCTTGGTCAGCCAAAC	0.473000														117			43		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34640458	34640458	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34640458C>T	uc010ucc.2	+	2	771	c.389C>T	c.(388-390)tCt>tTt	p.S130F	C15orf55_uc010ucd.2_Missense_Mutation_p.S120F|C15orf55_uc001zif.3_Missense_Mutation_p.S102F	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	102	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GCTGAGCCCTCTCAAACTCAG	0.577000			T	"""BRD3, BRD4"""	lethal midline carcinoma									66			40		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101375429	101375429	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:101375429G>A	uc001pgk.4	-	1	696	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	TRPC6_uc009ywy.3_Missense_Mutation_p.R91C|TRPC6_uc009ywz.1_Missense_Mutation_p.R91C	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	91					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTTGTGGAGCGATCACTAAAC	0.507000														127			49		0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85327814	85327814	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:85327814C>T	uc002bld.3	+	3	2244	c.1908C>T	c.(1906-1908)gcC>gcT	p.A636A	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	636					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCCGGCACGCCCGTGACCACA	0.597000														84			20		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2542543	2542544	+	Silent	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:2542543_2542544CC>TT	uc002wgf.1	+	3	456_457	c.441_442CC>TT	c.(439-444)tccctg>tcTTtg	p.147_148SL>SL	TMC2_uc002wgg.1_Silent_p.131_132SL>SL|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	147	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTGGGGAGTCCCTGTCCGAGGA	0.609000														65			24		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11007806	11007806	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11007806G>A	uc010oao.2	-	11	2386	c.2386C>T	c.(2386-2388)Ccc>Tcc	p.P796S	C1orf127_uc001ars.2_Missense_Mutation_p.P631S|C1orf127_uc001arr.2_Missense_Mutation_p.P639S	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	647										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GCCAAGGTGGGCTCTGTCAGC	0.632000														17			7		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473345	19473345	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:19473345C>T	uc003jgd.3	-	12	2897	c.2363G>A	c.(2362-2364)aGa>aAa	p.R788K	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.R788K|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	788					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R788G(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTAAGTTGTTCTTTCAGATTC	0.428000														121			44		0	0	1	0	0
SLC39A8	64116	broad.mit.edu	37	4	103188658	103188658	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:103188658G>A	uc003hwb.1	-	6	1751	c.1222C>T	c.(1222-1224)Ctg>Ttg	p.L408L	SLC39A8_uc011ceo.1_Silent_p.L408L|SLC39A8_uc003hwa.1_Silent_p.L341L|SLC39A8_uc003hwc.2_Silent_p.L408L	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	408						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		ATATCTGCCAGAGAAATATAG	0.358000														52			12		0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26090428	26090428	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26090428C>T	uc001bkm.2	+	6	1441	c.1111C>T	c.(1111-1113)Ctc>Ttc	p.L371F	MAN1C1_uc009vry.1_Missense_Mutation_p.L191F	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	371					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CCCCAACTTCCTCAGCCCAGT	0.582000														91			31		0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27685247	27685247	+	Missense_Mutation	SNP	G	A	A	rs146598623		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27685247G>A	uc001bny.1	-	18	2785	c.2536C>T	c.(2536-2538)Cgc>Tgc	p.R846C	MAP3K6_uc009vsw.1_Missense_Mutation_p.R838C|MAP3K6_uc001bnz.1_Missense_Mutation_p.R369C	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	846	Protein kinase.				activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAGGGGGGGCGACCTGTGGCC	0.617000														45			23		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197403884	197403884	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197403884G>A	uc001gtz.3	+	8	3100	c.2891G>A	c.(2890-2892)aGa>aAa	p.R964K	CRB1_uc010poz.2_Missense_Mutation_p.R940K|CRB1_uc009wza.3_Missense_Mutation_p.R852K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.R445K|CRB1_uc001gub.1_Missense_Mutation_p.R613K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	964	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATATTATTCAGAAGCAATGGG	0.323000														87			38		0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627663	43627663	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:43627663C>T	uc011lrb.2	-	3	1053	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	342						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						TCTTTTTCTTCCCAAATGTTG	0.428000														126			29		0	0	1	0	0
IL2	3558	broad.mit.edu	37	4	123374954	123374954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:123374954C>T	uc003ier.3	-	2	317	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_000586	NP_000577	P60568	IL2_HUMAN	Homo sapiens interleukin 2 (IL2), mRNA.	88					T cell differentiation|anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of B cell proliferation|positive regulation of activated T cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		TTTAGCACTTCCTCCAGAGGT	0.368000			T	TNFRSF17	intestinal T-cell lymphoma									112			39		0	0	1	0	0
FBXO4	26272	broad.mit.edu	37	5	41929924	41929924	+	Missense_Mutation	SNP	C	T	T	rs139473757		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41929924C>T	uc003jmq.3	+	2	607	c.551C>T	c.(550-552)cCa>cTa	p.P184L	FBXO4_uc003jmp.3_Missense_Mutation_p.P184L	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	Homo sapiens F-box protein 4 (FBXO4), transcript variant 1, mRNA.	184					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein polyubiquitination|telomere maintenance|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				ATGTTTGGACCAGGTTTGGAA	0.433000														175			65		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103557528	103557528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:103557528C>T	uc022ajr.1	-	1	491	c.331G>A	c.(331-333)Gga>Aga	p.G111R	RELN_uc022ajq.1_Missense_Mutation_p.G111R|RELN_uc010liz.3_Missense_Mutation_p.G111R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	111	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	p.G111R(2)		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)		TTACCAAATCCGAAAGCACTG	0.388000														98			39		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8435173	8435173	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:8435173G>A	uc001mgi.1	-	10	2132	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	STK33_uc001mgj.1_Missense_Mutation_p.P405S|STK33_uc001mgk.1_Missense_Mutation_p.P405S|STK33_uc010rbn.1_Missense_Mutation_p.P364S|STK33_uc001mgl.3_Missense_Mutation_p.P218S	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	405						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		ACACTTTCTGGGTTATTTTTC	0.373000														124			58		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90498113	90498113	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90498113G>A	uc004app.4	+	0	342	c.307G>A	c.(307-309)Gag>Aag	p.E103K	FAM75E1_uc004apo.1_Intron	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	103						integral to membrane											GAGCAGCAGGGAGGTAAGGAG	0.557000														7			4		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72680646	72680646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:72680646C>T	uc001sxa.3	+	1	995	c.965C>T	c.(964-966)tCa>tTa	p.S322L		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	322					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						GATCACTTTTCACAGACCCCT	0.403000														117			41		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505165	37505165	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:37505165G>A	uc021ppc.1	+	31	2857	c.2758G>A	c.(2758-2760)Gaa>Aaa	p.E920K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E920K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	976						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGAGCAAGGGAACTTCAAAA	0.323000														69			21		0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151545614	151545614	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151545614C>T	uc003eze.3	+	4	944	c.854C>T	c.(853-855)tCc>tTc	p.S285F		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	285					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	p.S285S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AATTGGAGTTCCCTGCTCCCT	0.383000														98			40		0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143100923	143100923	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:143100923C>T	uc003evn.3	-	12	1712	c.1503G>A	c.(1501-1503)gaG>gaA	p.E501E		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	501					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AGGAGGGGTCCTCCTTCAGAT	0.443000														237			26		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87683257	87683257	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:87683257C>T	uc003ydx.3	-	3	456	c.408G>A	c.(406-408)gtG>gtA	p.V136V	CNGB3_uc010maj.3_5'UTR	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	136					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GCATTCTTTTCACCAGGTTGT	0.468000														259			80		0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751819	26751819	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:26751819C>T	uc003cdp.3	+	1	1245	c.656C>T	c.(655-657)tCa>tTa	p.S219L	LRRC3B_uc003cdq.3_Missense_Mutation_p.S219L|LRRC3B_uc021wuj.1_Missense_Mutation_p.S219L	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	219						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						ATGGTGATCTCATATGTGGTA	0.468000														30			11		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107923951	107923951	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:107923951C>T	uc022ccg.1	+	44	4187	c.3985C>T	c.(3985-3987)Cct>Tct	p.P1329S	COL4A5_uc004enz.1_Missense_Mutation_p.P1323S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1323	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GAAAGGAGATCCTGGTCTCCC	0.428000									Alport syndrome with Diffuse Leiomyomatosis					13			23		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573667	140573667	+	Silent	SNP	C	T	T	rs17844573		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140573667C>T	uc003lix.3	+	0	1716	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	514	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCTGTTCGCCCTCAGGT	0.701000														316			51		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5041989	5041989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:5041989C>T	uc002cye.2	+	5	805	c.625C>T	c.(625-627)Cgt>Tgt	p.R209C		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	209						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CCACGGGCCCCGTAGCACCCT	0.697000														6			5		0	0	1	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925373	218925373	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:218925373G>A	uc002vgx.3	-	0	641	c.348C>T	c.(346-348)tcC>tcT	p.S116S	RUFY4_uc002vgw.3_Intron					Homo sapiens chemokine (C-X-C motif) receptor 2 pseudogene 1 (CXCR2P1), non-coding RNA.																		AGGAAAATGAGGACAACAGCA	0.547000														75			8		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20782881	20782881	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:20782881C>T	uc001reh.2	+	5	1620	c.1580C>T	c.(1579-1581)tCc>tTc	p.S527F	PDE3A_uc021qwa.1_Missense_Mutation_p.S205F	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	527					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TCGCCCTGCTCCTCACCTCTC	0.453000														104			39		0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42571329	42571329	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:42571329C>T	uc011dur.2	+	4	833	c.535C>T	c.(535-537)Cct>Tct	p.P179S	UBR2_uc003osf.3_Missense_Mutation_p.P179S	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	179					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ctttCAGGATCCTCTTGTTCA	0.303000														19			14		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37271906	37271906	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:37271906C>T	uc001caz.2	-	13	2248	c.2113G>A	c.(2113-2115)Gag>Aag	p.E705K	GRIK3_uc001cba.1_Missense_Mutation_p.E705K	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	705					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.E705D(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CACATCTTCTCGAAGGTGGAG	0.602000														28			7		0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106740156	106740156	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:106740156C>T	uc001tln.3	+	9	1582	c.1408C>T	c.(1408-1410)Cag>Tag	p.Q470*		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.	470										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AGCTGTCATTCAGCAGGAGCT	0.428000														33			10		0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	6	46216600	46216600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46216600C>T	uc003oyc.2	-	2	412	c.259G>A	c.(259-261)Gac>Aac	p.D87N	RCAN2_uc003oyb.2_Missense_Mutation_p.D41N|RCAN2_uc003oyd.2_Missense_Mutation_p.D87N	NM_001251974	NP_001238903	Q14206	RCAN2_HUMAN	Homo sapiens regulator of calcineurin 2 (RCAN2), transcript variant 2, mRNA.	41					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GTCACACAGTCATCATAAGTC	0.418000														61			5		0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101052900	101052900	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:101052900G>A	uc004ays.3	-	18	3252	c.2792C>T	c.(2791-2793)cCa>cTa	p.P931L		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	931					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GAAGGAGGGTGGCACATGTCT	0.692000														8			7		0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49806191	49806191	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:49806191G>A	uc003ozw.2	-	6	660	c.581C>T	c.(580-582)cCa>cTa	p.P194L	CRISP1_uc003ozx.2_Intron|CRISP1_uc021zaj.1_Missense_Mutation_p.P194L	NM_001131	NP_001192149	P54107	CRIS1_HUMAN	Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA.	194					fusion of sperm to egg plasma membrane	extracellular space		p.P194L(2)|p.V193V(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GGCTTCACATGGGACGCCTGT	0.363000														130			9		0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127944915	127944915	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:127944915G>A	uc002tod.2	-	7	1182	c.1051C>T	c.(1051-1053)Cat>Tat	p.H351Y	CYP27C1_uc021vnn.1_Missense_Mutation_p.H351Y	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	351						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GTTTTTGCATGAACAGCATTG	0.453000														71			34		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801863	185801863	+	Silent	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:185801863A>C	uc002uph.3	+	3	2334	c.1740A>C	c.(1738-1740)atA>atC	p.I580I		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	580						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACAACAAAATAAGGTTGAAAG	0.289000														65			24		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115341822	115341822	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115341822C>T	uc001lai.4	+	8	1129	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	HABP2_uc021pyr.1_Silent_p.P316P|HABP2_uc010qrz.1_Intron	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	342	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TCTCCATGCCCCAGGGCCACT	0.642000														32			14		0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301041	110301041	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110301041G>A	uc001dyr.2	-	7	839	c.614C>T	c.(613-615)tCc>tTc	p.S205F	EPS8L3_uc001dys.2_Missense_Mutation_p.S205F|EPS8L3_uc001dyq.2_Missense_Mutation_p.S206F|EPS8L3_uc009wfm.2_Missense_Mutation_p.S172F|EPS8L3_uc009wfn.2_Missense_Mutation_p.S180F|EPS8L3_uc009wfo.2_Missense_Mutation_p.S152F	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	205	Pro-rich.					cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GGGCCTTGGGGATGGTGGGAG	0.597000														185			15		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97082625	97082625	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:97082625C>T	uc004aup.1	-	4	1254	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	411										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				CCCCTGTGTCCCCAGGGTGAG	0.622000														97			11		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122114506	122114506	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:122114506G>A	uc022akp.1	-	11	2337	c.1915C>T	c.(1915-1917)Cat>Tat	p.H639Y	CADPS2_uc003vkg.4_Missense_Mutation_p.H340Y|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Missense_Mutation_p.H640Y|CADPS2_uc022akr.1_Missense_Mutation_p.H643Y	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	643					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGGAAGGCATGATCAAGCTTG	0.393000														46			25		0	0	1	0	0
KIAA0146	23514	broad.mit.edu	37	8	48353039	48353039	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:48353039C>T	uc003xqd.3	+	7	1094	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	KIAA0146_uc011lcz.2_Non-coding_Transcript|KIAA0146_uc011lda.2_Silent_p.F33F|KIAA0146_uc011ldb.2_Silent_p.F344F|KIAA0146_uc010lxs.3_5'UTR|KIAA0146_uc011ldc.2_Silent_p.F274F|KIAA0146_uc011ldd.2_Silent_p.F284F|KIAA0146_uc003xqe.3_5'UTR|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Silent_p.F33F|KIAA0146_uc010lxt.3_Silent_p.F33F	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	344										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				AAGTTCTCTTCACCAAGGAGA	0.587000														56			23		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16992006	16992006	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:16992006G>A	uc001ioo.3	-	33	5126	c.5074C>T	c.(5074-5076)Ctc>Ttc	p.L1692F		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1692	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTACCTCGGAGGGGCGCGTCT	0.463000														18			4		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86814879	86814879	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:86814879G>A	uc002blz.1	+	13	1959	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	AGBL1_uc002bma.1_Missense_Mutation_p.E358K|AGBL1_uc002bmb.1_Missense_Mutation_p.E321K	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	627					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						TTCTGTGAAGGAGGCTCTTCT	0.443000														126			22		0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66258726	66258726	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66258726C>T	uc001oig.1	+	6	732	c.670C>T	c.(670-672)Cct>Tct	p.P224S	DPP3_uc001oif.1_Missense_Mutation_p.P224S|DPP3_uc010rpe.1_Missense_Mutation_p.P213S	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	224					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TTCCCCAGAGCCTTCCCTGGA	0.552000											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		161			13		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57340662	57340662	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57340662G>A	uc001cyo.2	+	2	344	c.212G>A	c.(211-213)gGa>gAa	p.G71E		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	71	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AAGTTTGGGGGAACCATCTGC	0.473000														31			14		0	0	1	0	0
GNG2	54331	broad.mit.edu	37	14	52433336	52433336	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:52433336C>T	uc001wzi.3	+	3	704	c.147C>T	c.(145-147)ccC>ccT	p.P49P	GNG2_uc001wzh.3_Non-coding_Transcript|GNG2_uc010aoc.2_Non-coding_Transcript|GNG2_uc021rte.1_Silent_p.P49P|GNG2_uc001wzj.3_Silent_p.P49P|GNG2_uc001wzk.3_Silent_p.P49P	NM_053064	NP_444292	P59768	GBG2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 2 (GNG2), transcript variant 1, mRNA.	49					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	AGGAAGACCCCCTCCTGACCC	0.522000														136			43		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2401996	2401996	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:2401996G>A	uc010xgx.2	+	3	436	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	TMPRSS9_uc002lvv.1_Missense_Mutation_p.E180K	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	146					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCTTGGCAGAAAGAGACTT	0.443000														211			61		0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55823374	55823374	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55823374C>T	uc002qkf.3	+	20	2450	c.2323C>T	c.(2323-2325)Ccc>Tcc	p.P775S	BRSK1_uc002qkg.3_Missense_Mutation_p.P759S|BRSK1_uc002qkh.3_Missense_Mutation_p.P454S	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	759					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GAGCAGCTCTCCCCGCCGAGG	0.741000														7			5		0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21385560	21385560	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:21385560G>A	uc002zud.3	-	1	610	c.542C>T	c.(541-543)tCt>tTt	p.S181F	SLC7A4_uc002zue.3_Missense_Mutation_p.S181F	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	181				THVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSS -> DPRGFLAGAPPGPLPGLPGCWHHPPWPLPLSPVEPACPP (in Ref. 1; CAA04263).	cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GACAAAGGCAGAGGCCAGGAG	0.597000														28			18		0	0	1	0	0
TTLL13	440307	broad.mit.edu	37	15	90799405	90799405	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90799405G>A	uc002bpd.1	+	5	869	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	TTLL13_uc002bpe.1_Intron	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	194	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GGTCGTCAGCGAAAAGCCCGC	0.557000														135			29		0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281525	125281525	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125281525C>T	uc011lyw.2	+	0	106	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GGGCATGTACCTGATCACGGT	0.572000														167			32		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35619167	35619167	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:35619167G>A	uc021rid.1	+	2	1144	c.610G>A	c.(610-612)Gga>Aga	p.G204R	NBEA_uc021ric.1_Missense_Mutation_p.G204R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	204						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)		CATGCTTCGAGGAGAAAGTGG	0.403000														21			6		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49446098	49446098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:49446098G>A	uc001jgi.3	-	7	1188	c.857C>T	c.(856-858)tCg>tTg	p.S286L	FRMPD2_uc001jgh.3_Missense_Mutation_p.S255L|FRMPD2_uc001jgj.3_Missense_Mutation_p.S255L	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	286					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			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)		GTCTGCTGCCGAGTGCACAGA	0.572000														77			39		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870386	51870386	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:51870386C>T	uc002xwo.3	+	1	1276	c.389C>T	c.(388-390)gCc>gTc	p.A130V	TSHZ2_uc021wex.1_Missense_Mutation_p.A127V	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	130					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A130S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCTGTCTACGCCAACATCCTG	0.527000														50			19		0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203819693	203819693	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203819693C>T	uc001hac.3	+	17	2606	c.1990C>T	c.(1990-1992)Ccc>Tcc	p.P664S	ZC3H11A_uc001had.3_Missense_Mutation_p.P664S|ZC3H11A_uc001hae.3_Missense_Mutation_p.P664S|ZC3H11A_uc001haf.3_Missense_Mutation_p.P664S|ZC3H11A_uc010pqm.2_Missense_Mutation_p.P610S	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	664							nucleic acid binding|protein binding|zinc ion binding	p.P664P(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTGTCATCCCCCAAATTGGC	0.488000														124			38		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136564845	136564845	+	Silent	SNP	C	T	T	rs150640616		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136564845C>T	uc002tuu.1	-	8	4037	c.4026G>A	c.(4024-4026)acG>acA	p.T1342T		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1342	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGGCCTGTTCGTGTTGTTGA	0.522000														79			47		0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48220034	48220034	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:48220034C>T	uc002phj.4	+	1	415	c.165C>T	c.(163-165)ttC>ttT	p.F55F	EHD2_uc010xyu.2_Intron	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	55					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		ACGCAGACTTCGACGGCAAGC	0.677000														25			13		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20522568	20522568	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:20522568G>A	uc001reh.2	+	0	390	c.350G>A	c.(349-351)gGa>gAa	p.G117E		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	117					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGGCCTCGGGGAGGTGCTCCC	0.706000														8			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215333	140215333	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140215333C>T	uc003lhq.2	+	0	1365	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	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_uc011dac.2_Silent_p.F455F	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	469	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.F455L(2)|p.T454S(1)		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)			CCCCGGCGTTCGCGCAGCCCG	0.677000														88			33		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55174518	55174518	+	Splice_Site	SNP	C	T	T	rs141935558		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55174518C>T	uc002qgp.3	+	1	396	c.34_splice	c.e1+1	p.G12_splice	LILRB4_uc002qgo.1_Splice_Site_p.G53_splice|LILRB4_uc002qgq.3_Splice_Site_p.G12_splice|LILRB4_uc010ers.1_Splice_Site|LILRB4_uc010ert.3_Splice_Site_p.G53_splice|LILRB4_uc010eru.3_Splice_Site_p.G53_splice	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.	12						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)		TGCTCTGCCTCGGTGAGATTT	0.577000											OREG0003670	type=REGULATORY REGION|Gene=LILRB4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		73			7		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353831	77353831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:77353831C>T	uc002ffc.4	-	15	2866	c.2447G>A	c.(2446-2448)gGg>gAg	p.G816E	ADAMTS18_uc010chc.1_Missense_Mutation_p.G404E|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G512E	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	816	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A815T(1)		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						AAACGTGGTCCCAGCGAAGGG	0.572000														82			12		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118374328	118374328	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118374328C>T	uc001pta.3	+	26	7735	c.7712C>T	c.(7711-7713)gCc>gTc	p.A2571V	MLL_uc001ptb.3_Missense_Mutation_p.A2574V	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2571					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GGTCCAGTGGCCCAACCAAGC	0.473000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									68			19		0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52858009	52858009	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52858009G>A	uc011bem.2	-	9	1211	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S	ITIH4_uc011bel.2_Missense_Mutation_p.P125S|ITIH4_uc003dfy.3_Missense_Mutation_p.P259S|ITIH4_uc003dfz.3_Missense_Mutation_p.P395S|ITIH4_uc011ben.2_Missense_Mutation_p.P395S	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	395	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATGCTCCTGGGGTTAGTCTCC	0.542000														50			15		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87970614	87970614	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:87970614C>G	uc003plm.4	+	7	7308	c.7267C>G	c.(7267-7269)Ctt>Gtt	p.L2423V		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACACCGAAATCTTCTTATTGT	0.353000														11			7		0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11862215	11862215	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:11862215G>A	uc002dbk.3	-	10	1514	c.1316C>T	c.(1315-1317)aCc>aTc	p.T439I	ZC3H7A_uc002dbj.3_5'Flank|ZC3H7A_uc002dbl.3_Missense_Mutation_p.T439I|ZC3H7A_uc002dbm.2_Missense_Mutation_p.T349I	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	439						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CAATTCATGGGTTCCTTCGAG	0.408000														126			55		0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49042403	49042403	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49042403C>T	uc003cvh.3	+	5	1346	c.997C>T	c.(997-999)Cct>Tct	p.P333S	P4HTM_uc003cvg.3_Missense_Mutation_p.P333S|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	333	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	L-ascorbic acid binding|calcium ion binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GGACAGTGGGCCTGTGTACCC	0.612000														56			25		0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76908153	76908153	+	Missense_Mutation	SNP	C	T	T	rs144226591	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:76908153C>T	uc003uga.3	+	11	1652	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W	CCDC146_uc010ldp.3_Missense_Mutation_p.R223W	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	509										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TGAAATTTATCGGAGGTAAAG	0.303000														31			5		0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	327976	327976	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:327976G>A	uc002lok.1	-	3	266	c.257C>T	c.(256-258)cCc>cTc	p.P86L		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	86					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)		CTCATCAAAGGGCATGTCGTT	0.617000														20			14		0	0	1	0	0
SCN4B	6330	broad.mit.edu	37	11	118015828	118015828	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118015828C>T	uc001pse.3	-	1	420	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	SCN4B_uc010rxu.2_5'UTR|SCN4B_uc010rxv.2_Intron	NM_174934	NP_001135821	Q8IWT1	SCN4B_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, beta (SCN4B), transcript variant 1, mRNA.	60	Ig-like C2-type.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		TCCTCGAAGCCAAAGCAGCTG	0.562000											OREG0021380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		164			59		0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129458122	129458122	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:129458122C>T	uc011maa.2	+	6	931	c.924C>T	c.(922-924)gtC>gtT	p.V308V	LMX1B_uc004bqi.3_Silent_p.V297V|LMX1B_uc004bqj.3_Silent_p.V297V	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	274					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CCCCAGAGGTCCTGTCCAGCC	0.667000									Nail-Patella Syndrome					26			10		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49420128	49420128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:49420128G>A	uc001jgi.3	-	12	1811	c.1480C>T	c.(1480-1482)Cac>Tac	p.H494Y	FRMPD2_uc001jgh.3_Missense_Mutation_p.H462Y|FRMPD2_uc001jgj.3_Missense_Mutation_p.H463Y	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	494	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			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)		TCTTCAACGTGAAAGTATGGC	0.517000														22			12		0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52790732	52790732	+	Missense_Mutation	SNP	C	T	T	rs142616498	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52790732C>T	uc001sai.1	-	5	1118	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	335	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TCCAGGATCTCGTTCTTACGG	0.557000														37			13		0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255709	70255709	+	Silent	SNP	C	T	T	rs149150723		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:70255709C>T	uc003tvw.4	+	18	4242	c.3507C>T	c.(3505-3507)tcC>tcT	p.S1169S	AUTS2_uc003tvx.4_Silent_p.S1145S|AUTS2_uc011keg.2_Silent_p.S621S	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	1169	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGCTCCACTCCGTGCACCCCG	0.701000														56			15		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39871124	39871124	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39871124G>A	uc010lwy.1	+	9	1041	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Missense_Mutation_p.E8K|IDO2_uc003xnp.1_Missense_Mutation_p.E8K	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	254					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GCTGATGTATGAAGGAGTTTC	0.483000														77			18		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35802512	35802512	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35802512C>T	uc003zyd.3	+	10	1723	c.1723C>T	c.(1723-1725)Cag>Tag	p.Q575*	NPR2_uc010mlb.3_Nonsense_Mutation_p.Q575*	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	575	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GAGAGATGTTCAGTTCAACCA	0.413000														61			7		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61843269	61843269	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61843269C>T	uc001jky.3	-	32	4519	c.4181G>A	c.(4180-4182)aGa>aAa	p.R1394K	ANK3_uc001jkw.3_Missense_Mutation_p.R528K|ANK3_uc009xpa.3_Missense_Mutation_p.R528K|ANK3_uc001jkx.3_Missense_Mutation_p.R572K|ANK3_uc010qih.2_Missense_Mutation_p.R1395K|ANK3_uc001jkz.4_Missense_Mutation_p.R1388K|ANK3_uc001jla.1_Missense_Mutation_p.R460K|ANK3_uc001jkv.3_5'Flank|ANK3_uc009xpb.1_5'Flank|ANK3_uc009xpc.1_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1394					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						AAATGGCAGTCTATTTTCTTT	0.303000														72			16		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135745671	135745671	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:135745671C>A	uc002tue.1	-	6	802	c.771G>T	c.(769-771)gaG>gaT	p.E257D	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.E144D|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_5'UTR|YSK4_uc002tui.4_Missense_Mutation_p.E274D	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	257							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATGGGCTGAGCTCATCAGATT	0.453000														90			37		4.92203e-23	4.94992e-23	1	1	0
CSF3R	1441	broad.mit.edu	37	1	36933525	36933525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:36933525G>A	uc001caw.2	-	13	2346	c.1762C>T	c.(1762-1764)Cat>Tat	p.H588Y	CSF3R_uc001cav.2_Missense_Mutation_p.H588Y|CSF3R_uc001cax.2_Missense_Mutation_p.H588Y	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	588	Fibronectin type-III 5.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCCAGGCCATGGAGGACAAAG	0.627000														61			6		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21702955	21702955	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21702955G>A	uc002djh.3	+	7	687	c.686G>A	c.(685-687)aGa>aAa	p.R229K	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.R150K	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	229					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CATTCCCAGAGAGCTCTCTAT	0.488000														51			10		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990484	63990484	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:63990484C>T	uc003peh.3	-	3	1006	c.972G>A	c.(970-972)aaG>aaA	p.K324K	LGSN_uc003pei.3_Missense_Mutation_p.R184K	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	324					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACATGTTTTTCTTCCTATCGA	0.453000														76			12		0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170235640	170235640	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:170235640G>A	uc003mau.3	+	7	914	c.716G>A	c.(715-717)cGg>cAg	p.R239Q	GABRP_uc011dev.2_Missense_Mutation_p.R239Q	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	239						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.R239W(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTGAGCTTCGGAGGAATGTT	0.423000														59			21		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155232579	155232579	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:155232579G>A	uc021xge.1	-	10	1806	c.1529C>T	c.(1528-1530)cCt>cTt	p.P510L	PLCH1_uc021xgd.1_Missense_Mutation_p.P510L|PLCH1_uc021xgf.1_Missense_Mutation_p.P492L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	510					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.A510T(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAAACTATCAGGATCTTCTTT	0.428000														46			13		0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127901570	127901570	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:127901570G>A	uc003qbh.3	+	2	561	c.549G>A	c.(547-549)atG>atA	p.M183I		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	183						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CTGAGACAATGAACAAGTGGA	0.398000														62			32		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179664562	179664562	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179664562C>T	uc021vsy.1	-	4	884	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	TTN_uc021vsz.1_Missense_Mutation_p.R220Q|TTN_uc021vta.1_Missense_Mutation_p.R220Q|TTN_uc021vtb.1_Missense_Mutation_p.R220Q|TTN_uc002unb.2_Missense_Mutation_p.R220Q|TTN_uc002und.3_Missense_Mutation_p.R220Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	220							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R220P(7)|p.R220R(1)		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)			CTTTTCAATTCGGGTTTGTCT	0.403000														47			22		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087887	9087887	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9087887G>A	uc002mkp.3	-	0	4132	c.3928C>T	c.(3928-3930)Cct>Tct	p.P1310S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1310	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						GTCTCTCCAGGAGCTGTCATC	0.507000														65			24		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169523	207169523	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:207169523G>A	uc002vbp.2	+	4	521	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	91	Poly-Glu.						nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGAAGAAGAGGAAGAGGATGA	0.438000														41			9		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674254	4674254	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4674254C>T	uc021qcq.1	+	0	498	c.498C>T	c.(496-498)atC>atT	p.I166I	OR51E1_uc001lzi.4_Silent_p.I166I	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I165M(4)		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)		CTGTCTTCATCAAGCAGCTGC	0.552000														127			41		0	0	1	0	0
MIR155HG	114614	broad.mit.edu	37	21	26946395	26946395	+	RNA	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:26946395T>C	uc002ylm.4	+	2		c.389T>C								Homo sapiens MIR155 host gene (non-protein coding) (MIR155HG), non-coding RNA.																		TGGAACAAATTGCTGCCGTGG	0.398000														16			3		0	0	1	0	0
C16orf90	646174	broad.mit.edu	37	16	3544772	3544772	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3544772C>T	uc002cvi.3	-	1	152	c.152G>A	c.(151-153)gGa>gAa	p.G51E		NM_001080524	NP_001073993	A8MZG2	CP090_HUMAN	Homo sapiens chromosome 16 open reading frame 90 (C16orf90), mRNA.	41										large_intestine(1)	1						GGGCTTGCTTCCCTGGGCACT	0.716000														10			7		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768863	57768863	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:57768863C>T	uc002yan.3	+	0	2789	c.2789C>T	c.(2788-2790)tCt>tTt	p.S930F		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	930						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGAGTGCTCTCTGCCCTGGCA	0.642000														58			27		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57425826	57425826	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57425826C>T	uc001cyp.3	-	1	183	c.116G>A	c.(115-117)gGg>gAg	p.G39E	C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_5'UTR	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	39					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGCATTTGACCCAAAGGAATG	0.428000														94			8		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78073340	78073340	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:78073340C>T	uc010dht.3	+	19	3226	c.3195C>T	c.(3193-3195)atC>atT	p.I1065I	CCDC40_uc002jxm.4_Silent_p.I848I|CCDC40_uc002jxn.4_Silent_p.I461I|GAA_uc002jxp.3_5'Flank|GAA_uc002jxo.3_5'Flank|GAA_uc002jxq.3_5'Flank	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	1065					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TTTCAGAGATCGTGGCCCTGC	0.562000														59			21		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269936	150269936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150269936G>A	uc003whl.3	+	2	860	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	GIMAP4_uc011kuu.2_Missense_Mutation_p.E121K|GIMAP4_uc011kuv.2_Missense_Mutation_p.E274K	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	260							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGAGGAGTATGAAGAGAAAAT	0.468000														45			6		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119124924	119124924	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:119124924C>T	uc004bjn.3	+	17	4782	c.4401C>T	c.(4399-4401)tcC>tcT	p.S1467S	PAPPA_uc011lxq.2_Silent_p.S842S	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1467	Sushi 4.				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						GGAACGGCTCCTTCCATGTCT	0.532000														67			26		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65676400	65676400	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65676400G>A	uc002aou.1	-	19	3910	c.3700C>T	c.(3700-3702)Cct>Tct	p.P1234S	IGDCC4_uc002aot.1_Missense_Mutation_p.P822S	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	1234						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GCTCCTAGAGGGCAGGGGGAT	0.632000														24			7		0	0	1	0	0
CCDC69	26112	broad.mit.edu	37	5	150578630	150578630	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:150578630C>T	uc003ltq.3	-	3	370	c.247G>A	c.(247-249)Gag>Aag	p.E83K	CCDC69_uc010jhu.3_5'UTR|CCDC69_uc011dcq.2_Non-coding_Transcript	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	Homo sapiens coiled-coil domain containing 69 (CCDC69), mRNA.	83										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTCTAGCTCCCTTTCCTTC	0.557000														127			45		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531727	92531727	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92531727C>T	uc001pdj.4	+	8	5565	c.5548C>T	c.(5548-5550)Cat>Tat	p.H1850Y		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1850	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTCCATTTTCATGTGCATGT	0.463000										TCGA Ovarian(4;0.039)				25			8		0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95307561	95307561	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:95307561T>G	uc001dqv.4	+	7	873	c.766T>G	c.(766-768)Tgc>Ggc	p.C256G	SLC44A3_uc001dqx.4_Missense_Mutation_p.C256G|SLC44A3_uc010otq.2_Missense_Mutation_p.C188G|SLC44A3_uc010otr.2_Missense_Mutation_p.C220G|SLC44A3_uc001dqw.4_Missense_Mutation_p.C208G|SLC44A3_uc010ots.2_Missense_Mutation_p.C176G|SLC44A3_uc009wds.3_Missense_Mutation_p.C159G|SLC44A3_uc010ott.2_Missense_Mutation_p.C176G|SLC44A3_uc010otu.1_Non-coding_Transcript	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	256						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TCTAGTTGTCTGCGGTGTTTT	0.483000														235			70		0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27260509	27260509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27260509C>T	uc002ria.4	+	8	1201	c.1091C>T	c.(1090-1092)aCc>aTc	p.T364I	TMEM214_uc002rib.4_Missense_Mutation_p.T319I	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	364						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ACCCTGCATACCTACTTCCCT	0.577000														113			49		0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150721387	150721387	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150721387C>T	uc011kvc.2	-	0	200	c.124G>A	c.(124-126)Gga>Aga	p.G42R	ATG9B_uc003wig.4_5'Flank	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	42	Pro-rich.				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCCAGGTCCCCGGCATGAA	0.672000														9			4		0	0	1	0	0
GSR	2936	broad.mit.edu	37	8	30567359	30567359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:30567359G>A	uc003xih.2	-	2	528	c.394C>T	c.(394-396)Cca>Tca	p.P132S	GSR_uc022ato.1_Missense_Mutation_p.P132S|GSR_uc022atp.1_Missense_Mutation_p.P132S|GSR_uc022atq.1_Missense_Mutation_p.P132S	NM_000637	NP_000628	P00390	GSHR_HUMAN	Homo sapiens glutathione reductase (GSR), transcript variant 1, mRNA.	132					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TCACAACTTGGAAAGCCATAA	0.363000														33			9		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57924639	57924639	+	Missense_Mutation	SNP	C	T	T	rs138018355	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:57924639C>T	uc002aei.3	+	6	817	c.686C>T	c.(685-687)tCg>tTg	p.S229L	GCOM1_uc002aej.3_Missense_Mutation_p.S229L|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.S229L|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.S229L	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	229					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TAGGTGGAATCGTCCCAAGAA	0.517000														113			43		0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138219307	138219307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:138219307C>T	uc003esl.3	-	14	1669	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	CEP70_uc011bmk.2_Missense_Mutation_p.E471K|CEP70_uc011bml.2_Missense_Mutation_p.E473K|CEP70_uc011bmm.2_Missense_Mutation_p.E339K|CEP70_uc003esm.3_Missense_Mutation_p.E491K	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	491					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GTATAAACTTCATTCATTCGG	0.383000														274			74		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6999962	6999962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:6999962C>T	uc002knm.3	-	30	4511	c.4417G>A	c.(4417-4419)Gat>Aat	p.D1473N	LAMA1_uc010wzj.2_Missense_Mutation_p.D949N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1473	Laminin EGF-like 16.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAACGGAAATCGTGGTCCCCT	0.423000														41			19		0	0	1	0	0
C9orf152	401546	broad.mit.edu	37	9	112963672	112963672	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:112963672T>C	uc011lwk.2	-	1	830	c.276A>G	c.(274-276)gaA>gaG	p.E92E	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	92										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AATCTGCCTCTTCCAGGGACA	0.552000														49			10		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111077171	111077171	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:111077171G>A	uc001vqx.3	+	4	560	c.271G>A	c.(271-273)Ggt>Agt	p.G91S		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	91					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGAGACAAGGGTGAAAGGGG	0.637000														64			25		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50546582	50546582	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50546582G>A	uc003bjj.3	+	3	543	c.460G>A	c.(460-462)Gga>Aga	p.G154R	MOV10L1_uc003bjk.4_Missense_Mutation_p.G154R|MOV10L1_uc011arp.2_Missense_Mutation_p.G134R|MOV10L1_uc010han.3_Missense_Mutation_p.G134R	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	154					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding	p.G154R(2)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GCCCTGCAAGGGAGACTGGGT	0.532000														28			11		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122808458	122808458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:122808458C>T	uc003vkm.3	-	5	655	c.630G>A	c.(628-630)ggG>ggA	p.G210G	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	210						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTGAAATTTTCCCTGTATCAT	0.254000														78			16		0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64504407	64504407	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64504407C>T	uc009ypu.3	-	8	1140	c.913G>A	c.(913-915)Ggt>Agt	p.G305S	RASGRP2_uc001oat.3_Missense_Mutation_p.G207S|RASGRP2_uc001oau.3_Missense_Mutation_p.G160S|RASGRP2_uc009ypv.3_Missense_Mutation_p.G305S|RASGRP2_uc009ypw.3_Missense_Mutation_p.G305S	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	305	Ras-GEF.				Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGTGCACACCCAGGATCGGG	0.652000														34			13		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90503081	90503081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90503081G>A	uc004app.4	+	3	3714	c.3679G>A	c.(3679-3681)Gcc>Acc	p.A1227T		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1227						integral to membrane											GACCTCTGAAGCCAGTGGGAG	0.597000														26			4		0	0	1	0	0
GBAS	2631	broad.mit.edu	37	7	56065061	56065061	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:56065061T>G	uc003tre.2	+	8	748	c.715T>G	c.(715-717)Tac>Gac	p.Y239D	GBAS_uc003trf.2_Missense_Mutation_p.Y200D	NM_001483	NP_001474	O75323	NIPS2_HUMAN	Homo sapiens glioblastoma amplified sequence (GBAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	239						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTTTTAAGCTTACAGGGATCT	0.418000														83			32		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995456	140995456	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140995456C>T	uc004fbt.3	+	3	2590	c.2266C>T	c.(2266-2268)Ccc>Tcc	p.P756S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P415S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	756							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)					TTTGAGTCTTCCCCAGAGTTT	0.547000										HNSCC(15;0.026)				101			96		0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61034973	61034973	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:61034973G>A	uc001nra.3	-	15	2205	c.1926C>T	c.(1924-1926)ttC>ttT	p.F642F	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	642	VWFC 5.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCACAGACGGGAAGGTCTCGT	0.597000														76			21		0	0	1	0	0
MFSD2B	388931	broad.mit.edu	37	2	24239784	24239784	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:24239784C>T	uc002reo.2	+	3	431	c.417C>T	c.(415-417)agC>agT	p.S139S	MFSD2B_uc010exz.2_Non-coding_Transcript	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	139					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCTTCACCAGCCTGCGAGGCC	0.662000														81			6		0	0	1	0	0
FBXW4	6468	broad.mit.edu	37	10	103433321	103433321	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:103433321G>A	uc001kto.3	-	2	812	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L		NM_022039	NP_071322	P57775	FBXW4_HUMAN	Homo sapiens F-box and WD repeat domain containing 4 (FBXW4), mRNA.	156					Wnt receptor signaling pathway|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		AAGACTCCCAGAGGCCGACGA	0.512000														166			42		0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32774912	32774912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:32774912G>A	uc003jhv.3	+	3	1603	c.1158G>A	c.(1156-1158)ggG>ggA	p.G386G	NPR3_uc010iuo.3_Silent_p.G170G|NPR3_uc003jhw.2_Silent_p.G170G|NPR3_uc003jhu.3_Silent_p.G386G	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	386					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AGGATGGAGGGAAAATTATAC	0.443000														114			62		0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66204583	66204583	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:66204583C>T	uc011dxu.1	-	3	1259	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	EYS_uc003peq.3_Missense_Mutation_p.E241K|EYS_uc003per.1_Missense_Mutation_p.E241K|EYS_uc021zbn.1_Missense_Mutation_p.E241K|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	241	EGF-like 2.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CAGACACATTCATATGCTTGC	0.299000														9			5		0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52367790	52367790	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:52367790C>T	uc003joy.3	+	17	2401	c.2258C>T	c.(2257-2259)tCt>tTt	p.S753F	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.S677F|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	753					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTTGTCAACTCTTTGGATTTG	0.453000														43			19		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228559601	228559601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228559601C>T	uc009xez.1	+	93	21166	c.21122C>T	c.(21121-21123)tCt>tTt	p.S7041F	OBSCN_uc001hsr.1_Missense_Mutation_p.S1670F	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7041	Pro-rich.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGCAGGGTTCTGCCCCCCAG	0.672000														27			12		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57351663	57351663	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57351663G>A	uc001cyo.2	+	6	1051	c.919G>A	c.(919-921)Gac>Aac	p.D307N		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	307	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGGAAGGATGACATTATGCT	0.403000														66			21		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74631996	74631996	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74631996G>A	uc002axt.2	-	5	1244	c.1089C>T	c.(1087-1089)gcC>gcT	p.A363A	CYP11A1_uc002axs.2_Silent_p.A205A|CYP11A1_uc010bjm.1_Silent_p.A205A|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010bjp.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_Silent_p.A143A	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	363					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TGTCTCCCTGGGCCTGGTGCC	0.612000														35			36		0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58606038	58606038	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:58606038G>A	uc010tro.2	-	2	351	c.153C>T	c.(151-153)ttC>ttT	p.F51F	C14orf37_uc001xdc.3_Silent_p.F13F|C14orf37_uc001xdd.3_Silent_p.F13F|C14orf37_uc001xde.3_Silent_p.F13F	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	13						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GAAGGCTACAGAAAGCCAGAC	0.473000														68			39		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99514193	99514193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:99514193G>A	uc003dti.1	+	2	1579	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G483E|COL8A1_uc003dth.1_Missense_Mutation_p.G483E	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	483	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGACCTAAGGGAGAGCCAGGA	0.627000														9			4		0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486595	125486595	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125486595G>A	uc004bmu.1	+	0	327	c.327G>A	c.(325-327)ggG>ggA	p.G109G		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G109R(2)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGGCATTTGGGAACACTGACA	0.483000														140			9		0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17488061	17488061	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17488061G>A	uc002ngk.1	-	0	77	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	13						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCCCCGCCCGAGCGTAGGAC	0.652000														126			12		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170063345	170063345	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170063345C>T	uc002ues.3	-	38	7098	c.6885G>A	c.(6883-6885)agG>agA	p.R2295R		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2295					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTTCAAATTCCTATCTACCC	0.413000														74			37		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25283504	25283504	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25283504C>T	uc010aaa.3	+	17	2847	c.2514C>T	c.(2512-2514)atC>atT	p.I838I	ATP12A_uc001upp.3_Silent_p.I832I	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	832					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.A838V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CCCTCTAGATCCCCTCCATTG	0.592000														81			16		0	0	1	0	0
FBXO32	114907	broad.mit.edu	37	8	124553147	124553147	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:124553147G>A	uc003yqr.3	-	0	347	c.108C>T	c.(106-108)gaC>gaT	p.D36D	FBXO32_uc010mdk.3_Silent_p.D36D	NM_058229	NP_680482	Q969P5	FBX32_HUMAN	Homo sapiens F-box protein 32 (FBXO32), transcript variant 1, mRNA.	36										autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACCTGCTGAGGTCGCTCACGA	0.687000														25			11		0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131072886	131072886	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:131072886G>A	uc003yta.2	-	27	3359	c.3131C>T	c.(3130-3132)tCc>tTc	p.S1044F	ASAP1_uc003ysz.2_Missense_Mutation_p.S855F|ASAP1_uc011liw.2_Missense_Mutation_p.S1037F	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	1044					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GAGGTCGTTGGAGTCTTCAGA	0.532000														199			26		0	0	1	0	0
TMEM245	23731	broad.mit.edu	37	9	111812952	111812952	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:111812952G>A	uc004bdt.4	-	12	1907	c.1875C>T	c.(1873-1875)atC>atT	p.I625I	TMEM245_uc022bln.1_Silent_p.I177I|TMEM245_uc004bds.4_Non-coding_Transcript	NM_032012	NP_114401	Q9H330	CI005_HUMAN	Homo sapiens chromosome 9 open reading frame 5 (C9orf5), mRNA.	625						integral to membrane											GGCTCATAACGATCCACAGAG	0.458000														37			15		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364688	5364688	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5364688G>A	uc001map.1	-	0	67	c.67C>T	c.(67-69)Cac>Tac	p.H23Y	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.H23Y	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAATCCAGTGATGAGCTTCC	0.433000														43			12		0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76777849	76777849	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:76777849G>A	uc004ecp.4	-	31	7099	c.6867C>T	c.(6865-6867)ttC>ttT	p.F2289F	ATRX_uc004ecq.4_Silent_p.F2251F|ATRX_uc004eco.4_Silent_p.F2074F	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2289					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.R2288R(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)	TTGGTATGTTGAAACGCATGG	0.368000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							27			39		0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54963142	54963142	+	Silent	SNP	C	T	T	rs151025806	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54963142C>T	uc001sgd.2	+	3	795	c.402C>T	c.(400-402)ttC>ttT	p.F134F	PDE1B_uc010soz.2_5'UTR|PDE1B_uc010spa.1_Silent_p.F93F|PDE1B_uc001sge.3_Silent_p.F114F|PDE1B_uc001sgf.3_5'UTR|PDE1B_uc009znq.3_Intron	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	134					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CTGGGATCTTCGTGGAACGGT	0.622000														32			11		0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3638758	3638758	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3638758G>A	uc001akp.3	+	4	713	c.603G>A	c.(601-603)agG>agA	p.R201R	TP73_uc021ofb.1_Silent_p.R201R|TP73_uc021ofc.1_Silent_p.R201R|TP73_uc021ofd.1_Silent_p.R201R|TP73_uc021ofe.1_Silent_p.R201R|TP73_uc021off.1_Silent_p.R201R|TP73_uc010nzj.2_Silent_p.R152R|TP73_uc021ofg.1_Silent_p.R152R|TP73_uc021ofh.1_Silent_p.R152R|TP73_uc021ofi.1_Silent_p.R152R|TP73_uc001akr.3_Silent_p.R152R|TP73_uc009vlk.2_Silent_p.R152R|TP73_uc001aks.3_Silent_p.R152R|TP73_uc010nzk.2_Silent_p.R130R	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	201	DNA-binding (Potential).				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|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		AGCTCGGGAGGGACTTCAACG	0.662000														29			13		0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499314	150499314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150499314C>T	uc003whx.1	+	2	264	c.186C>T	c.(184-186)atC>atT	p.I62I	TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176B_uc003whw.4_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	62						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATGCAGATCGTGCTGGGGA	0.562000														48			17		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20269523	20269523	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:20269523G>A	uc002wru.3	+	22	3181	c.3067G>A	c.(3067-3069)Gag>Aag	p.E1023K	C20orf26_uc002wrw.3_Intron	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	1023								p.T1022T(1)		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)		GCCTGTGACCGAGCCACCAGC	0.483000														44			15		0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155235133	155235133	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:155235133C>T	uc004fnv.1	+	5	949	c.770C>T	c.(769-771)cCc>cTc	p.P257L	IL9R_uc010nvn.2_Missense_Mutation_p.P236L|IL9R_uc004fnu.1_Missense_Mutation_p.P292L	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	257					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTCCAGGCTCCCCAGAGACAA	0.617000														31			9		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149227596	149227596	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:149227596C>T	uc002twm.4	+	8	3081	c.2084C>T	c.(2083-2085)tCa>tTa	p.S695L	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_Missense_Mutation_p.S136L	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	695						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GGTCAGGGTTCATTTCCCATC	0.468000														64			24		0	0	1	0	0
TMEM35	59353	broad.mit.edu	37	X	100349772	100349772	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:100349772C>T	uc004egw.3	+	1	487	c.331C>T	c.(331-333)Cct>Tct	p.P111S		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	Homo sapiens transmembrane protein 35 (TMEM35), mRNA.	111						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane		p.P111L(1)		NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GGTCGGTGATCCTCTCAAACG	0.567000														46			45		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190195323	190195323	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:190195323G>A	uc001gse.1	-	5	1082	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	FAM5C_uc010pot.1_Missense_Mutation_p.P182S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	284						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)					GGAAATTTGGGACCACAGTGA	0.438000														61			20		0	0	1	0	0
AHSP	51327	broad.mit.edu	37	16	31539891	31539891	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31539891G>A	uc002ecj.3	+	2	273	c.188G>A	c.(187-189)cGa>cAa	p.R63Q		NM_016633	NP_057717	Q9NZD4	AHSP_HUMAN	Homo sapiens alpha hemoglobin stabilizing protein (AHSP), mRNA.	63					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						CCCCAAGAGCGAGACAAGGCT	0.547000														41			28		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116429355	116429355	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:116429355G>A	uc001tvw.3	-	16	3459	c.3404C>T	c.(3403-3405)gCc>gTc	p.A1135V		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1135					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CATGTTGCAGGCACAGATGCA	0.483000														60			37		0	0	1	0	0
MTAP	4507	broad.mit.edu	37	9	21854633	21854633	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21854633C>T	uc003zph.3	+	5	567	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	MTAP_uc003zpi.1_Intron|MTAP_uc010mit.3_Non-coding_Transcript|MTAP_uc011lnk.2_Missense_Mutation_p.L169F|MTAP_uc011lnl.2_Missense_Mutation_p.L85F	NM_002451	NP_002442	Q13126	MTAP_HUMAN	Homo sapiens methylthioadenosine phosphorylase (MTAP), mRNA.	152					nucleoside metabolic process	cytoplasm	S-methyl-5-thioadenosine phosphorylase activity|phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	TTTCTAGGTTCTTATAGAGAC	0.443000														91			11		0	0	1	0	0
MRPL21	219927	broad.mit.edu	37	11	68664142	68664142	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:68664142G>A	uc010rqe.1	-	3	262	c.237C>T	c.(235-237)gtC>gtT	p.V79V	MRPL21_uc001ooh.3_5'UTR|MRPL21_uc001ooi.3_Silent_p.V79V	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	Homo sapiens mitochondrial ribosomal protein L21 (MRPL21), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	79					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTTCTTCACGACCTCTGCAG	0.632000														100			27		0	0	1	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160803840	160803840	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:160803840G>A	uc003fdv.3	-	4	1122	c.703C>T	c.(703-705)Cct>Tct	p.P235S	B3GALNT1_uc003fdw.3_Missense_Mutation_p.P235S|B3GALNT1_uc003fdx.3_Missense_Mutation_p.P235S|B3GALNT1_uc003fdy.3_Missense_Mutation_p.P235S|B3GALNT1_uc003fdz.3_Missense_Mutation_p.P235S|B3GALNT1_uc003fea.3_Missense_Mutation_p.P235S|B3GALNT1_uc011bpa.2_Intron|B3GALNT1_uc021xgw.1_Missense_Mutation_p.P235S	NM_033169	NP_149359	O75752	B3GL1_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.	235					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			CAGTATGGAGGGAACACCTTG	0.378000														74			25		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20552473	20552473	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:20552473C>T	uc003gpr.1	+	24	2717	c.2513C>T	c.(2512-2514)tCt>tTt	p.S838F	SLIT2_uc003gps.1_Missense_Mutation_p.S830F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	838					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AATGACATTTCTGTTGTGCCT	0.343000														67			21		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107360822	107360822	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107360822C>T	uc011lvp.2	-	0	873	c.873G>A	c.(871-873)atG>atA	p.M291I		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TTAAAGGATTCATCATGGGAG	0.373000														82			6		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112705119	112705119	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:112705119G>A	uc004bei.2	+	6	842	c.650G>A	c.(649-651)gGa>gAa	p.G217E	PALM2-AKAP2_uc004beg.3_Missense_Mutation_p.G185E|PALM2-AKAP2_uc004beh.4_Missense_Mutation_p.G217E|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	483							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GTGCGCTCAGGAGGCACCGTA	0.468000														44			4		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142188379	142188379	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:142188379C>T	uc003eux.4	-	37	6474	c.6352G>A	c.(6352-6354)Gat>Aat	p.D2118N	ATR_uc003euy.1_Missense_Mutation_p.D4N	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2118	FAT.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTACCCAAATCATTCCTCATT	0.343000								Other conserved DNA damage response genes						83			31		0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44598104	44598104	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44598104G>A	uc002xqw.3	-	2	551	c.428C>T	c.(427-429)cCc>cTc	p.P143L	ZNF335_uc010zxk.2_Intron|ZNF335_uc002xqx.1_Missense_Mutation_p.P111L|ZNF335_uc002xqy.3_5'Flank	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GATGAGGTCGGGCCCGATGGT	0.622000														31			4		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48596379	48596379	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48596379G>A	uc010wmr.2	+	5	988	c.826G>A	c.(826-828)Gag>Aag	p.E276K	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	239					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GCACACCGGGGAGACCTACAG	0.582000														50			19		0	0	1	0	0
CREB3L1	90993	broad.mit.edu	37	11	46342292	46342292	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:46342292C>T	uc021qil.1	+	11	1990	c.1555C>T	c.(1555-1557)Cct>Tct	p.P519S	CREB3L1_uc021qik.1_Missense_Mutation_p.S519F|CREB3L1_uc001ncg.3_Missense_Mutation_p.P153S	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	168					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		ATCAAACTCTCCTAGGCCATG	0.592000			T	FUS	myxofibrosarcoma									13			9		0	0	1	0	0
TNP2	7142	broad.mit.edu	37	16	11361859	11361859	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:11361859G>A	uc002das.3	-	1	452	c.411C>T	c.(409-411)tcC>tcT	p.S137S	RMI2_uc002daq.1_Intron	NM_005425	NP_005416	Q05952	STP2_HUMAN	Homo sapiens transition protein 2 (during histone to protamine replacement) (TNP2), mRNA.	137					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						CTCATTAGTTGGATTTCCATC	0.443000														12			8		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38861371	38861371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38861371C>T	uc002oih.4	+	28	3506	c.3419C>T	c.(3418-3420)tCc>tTc	p.S1140F	CATSPERG_uc002oig.4_Missense_Mutation_p.S1100F|CATSPERG_uc002oif.4_Missense_Mutation_p.S780F|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	1140					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ATGTTCAGCTCCAGGATGACA	0.562000														114			26		0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22945069	22945069	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22945069C>T	uc001yus.3	+	11	1244	c.1140C>T	c.(1138-1140)gcC>gcT	p.A380A	CYFIP1_uc001yut.3_Silent_p.A380A|CYFIP1_uc010aya.1_Silent_p.A408A	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	380					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCCAGGAGGCCCAGAAGACGG	0.701000														5			3		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29432720	29432720	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29432720G>A	uc002rmy.3	-	24	4720	c.3768C>T	c.(3766-3768)ctC>ctT	p.L1256L	ALK_uc010ymo.2_Silent_p.L188L	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1256	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GACAGGTCAAGAGGCAGTTTC	0.507000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					44			16		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233313560	233313560	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233313560C>T	uc001hvl.2	-	16	3496	c.3261G>A	c.(3259-3261)atG>atA	p.M1087I	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.	1087						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)				CTGAATCTTTCATCTTCTTGG	0.463000														33			15		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87645063	87645063	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:87645063C>T	uc003ydx.3	-	10	1285	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	CNGB3_uc010maj.3_Missense_Mutation_p.E275K	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	413					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GTTTGTGGTTCTGGAAGGCCA	0.323000														44			17		0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54570741	54570741	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:54570741G>A	uc003jpx.3	-	14	2645	c.2525C>T	c.(2524-2526)cCt>cTt	p.P842L	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	842							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GATTTTATGAGGATTCATGTA	0.358000														154			54		0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713809	32713809	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32713809G>A	uc003obx.3	+	2	631	c.573G>A	c.(571-573)gtG>gtA	p.V191V		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	191	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTGCAAGGTGGAGCACTGGG	0.473000														216			15		0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	70080744	70080744	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:70080744G>A	uc004dyl.3	-	5	494	c.332C>T	c.(331-333)tCa>tTa	p.S111L	TEX11_uc004dym.3_Missense_Mutation_p.S96L	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	111							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TGAGGCAAATGAGGCTTCACA	0.338000														13			21		0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58275715	58275715	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:58275715G>A	uc002iyo.1	-	26	3626	c.3340C>T	c.(3340-3342)Cgg>Tgg	p.R1114W	USP32_uc002iyn.1_Missense_Mutation_p.R784W	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	1114					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCTTTCTTCCGGGTATGCACA	0.478000														122			50		0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48145556	48145556	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48145556G>A	uc001rpz.4	-	3	880	c.330C>T	c.(328-330)gcC>gcT	p.A110A	RAPGEF3_uc009zkp.3_Silent_p.A68A|RAPGEF3_uc009zkq.3_Silent_p.A68A|RAPGEF3_uc009zkr.2_Intron|RAPGEF3_uc009zks.2_Silent_p.A122A|RAPGEF3_uc001rqb.3_Silent_p.A110A	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	68					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TTGGGCAGGTGGCCAGCAGAT	0.627000														43			12		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17449880	17449880	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17449880G>A	uc001mnc.3	-	13	2122	c.1996C>T	c.(1996-1998)Ctg>Ttg	p.L666L		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	666					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTGGGGACCAGGCTCTGCAGT	0.657000														122			25		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61828486	61828486	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61828486C>T	uc001jky.3	-	36	12491	c.12153G>A	c.(12151-12153)acG>acA	p.T4051T	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.	4051					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						TAGCAGACTTCGTTGTAACCG	0.478000														166			66		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873041	36873041	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36873041G>A	uc003cgj.3	-	20	8149	c.7901C>T	c.(7900-7902)cCt>cTt	p.P2634L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2634					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTAGTCCACAGGGTCCAAACA	0.542000														11			5		0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26203890	26203890	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:26203890G>A	uc002rgu.2	-	0	1554	c.897C>T	c.(895-897)gcC>gcT	p.A299A	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Silent_p.A299A	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	299	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.S298F(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTTGCCCAGGGCAGATAATG	0.637000														42			10		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38921528	38921528	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38921528G>A	uc021wvy.1	-	18	3505	c.3306C>T	c.(3304-3306)atC>atT	p.I1102I	SCN11A_uc010hhn.1_Silent_p.I180I	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1102					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCATCTCCAGGATAAAAATAT	0.348000														34			17		0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122387215	122387215	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:122387215G>A	uc004etq.4	+	2	622	c.330G>A	c.(328-330)atG>atA	p.M110I	GRIA3_uc004etr.4_Missense_Mutation_p.M110I|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.M94I	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	110					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AGATGTCAATGAACACCCTGA	0.498000														50			73		0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7867834	7867834	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7867834C>T	uc001qtf.3	+	1	216	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	46						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		ACTTGACTATCAACGCTAGTA	0.458000														102			14		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55444993	55444993	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55444993C>T	uc002qih.4	-	7	2662	c.2586G>A	c.(2584-2586)ggG>ggA	p.G862G	NLRP7_uc010esk.3_Silent_p.G862G|NLRP7_uc002qig.4_Silent_p.G834G|NLRP7_uc002qii.4_Silent_p.G862G|NLRP7_uc010esl.3_Silent_p.G890G	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	862							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAAACTTCACCCCTGTATCCC	0.507000														63			25		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78071191	78071191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:78071191C>T	uc010dht.3	+	18	3200	c.3169C>T	c.(3169-3171)Ctc>Ttc	p.L1057F	CCDC40_uc002jxm.4_Missense_Mutation_p.L840F|CCDC40_uc002jxn.4_Missense_Mutation_p.L453F	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	1057					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTTGGGGCCCTCAAACGACA	0.592000														39			10		0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116067573	116067573	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:116067573C>T	uc001lbn.3	-	9	1364	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	AFAP1L2_uc001lbo.3_Missense_Mutation_p.E355K|AFAP1L2_uc010qse.2_Missense_Mutation_p.E408K|AFAP1L2_uc001lbp.3_Missense_Mutation_p.E383K|AFAP1L2_uc001lbr.1_Missense_Mutation_p.E355K|AFAP1L2_uc010qsd.2_5'Flank	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	355	PH 2.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTGGATGTCTCGAGGGACCTC	0.542000														54			15		0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194117702	194117702	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:194117702C>T	uc003ftv.1	-	1	1341	c.1310G>A	c.(1309-1311)cGg>cAg	p.R437Q	GP5_uc021xiz.1_Missense_Mutation_p.R437Q	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	437	LRRCT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TAGGTGCTGCCGCAGCCACCC	0.756000														1			7		0	0	1	0	0
TMEM154	201799	broad.mit.edu	37	4	153564299	153564299	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:153564299G>A	uc003imw.2	-	4	651	c.419C>T	c.(418-420)tCt>tTt	p.S140F		NM_152680	NP_689893	Q6P9G4	TM154_HUMAN	Homo sapiens transmembrane protein 154 (TMEM154), mRNA.	140						integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTCCATAACAGAGGGTGTATC	0.338000														81			19		0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44272158	44272158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:44272158C>T	uc010xcy.1	-	3	961	c.393G>A	c.(391-393)atG>atA	p.M131I	ST8SIA5_uc002lci.1_5'UTR|ST8SIA5_uc002lcj.1_Missense_Mutation_p.M95I|ST8SIA5_uc010xcz.1_Missense_Mutation_p.M64I|ST8SIA5_uc010dno.1_Missense_Mutation_p.M131I	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	95					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		p.L130I(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAGAGATGTTCATCGCCCATT	0.507000														59			21		0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5227059	5227059	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:5227059C>T	uc009xhz.2	-	0		c.92G>A								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCTTCAGATCCGTCATCATCC	0.507000														43			20		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53232924	53232924	+	Silent	SNP	C	T	T	rs140251181		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53232924C>T	uc001sbc.1	-	8	1600	c.1536G>A	c.(1534-1536)tcG>tcA	p.S512S		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	512	Tail.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TCTTCAGACTCGACTCAACTG	0.582000														16			9		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637121	248637121	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248637121G>A	uc001iel.1	+	0	470	c.470G>A	c.(469-471)gGa>gAa	p.G157E		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			TGGGTTTTGGGAATGGTTGAT	0.522000														33			10		0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158900900	158900900	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:158900900C>T	uc003qrf.3	+	6	2501	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	TULP4_uc011efo.2_Nonsense_Mutation_p.Q382*|TULP4_uc003qrg.3_Nonsense_Mutation_p.Q382*	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	382	SOCS box.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCTGCTGTGCCAGCAGGCCAT	0.647000														31			22		0	0	1	0	0
MRAP	56246	broad.mit.edu	37	21	33684082	33684082	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:33684082G>A	uc002ypj.3	+	4	481	c.294G>A	c.(292-294)agG>agA	p.R98R	MRAP_uc002ypk.3_Intron|URB1_uc002ypn.2_3'UTR|MRAP_uc011ado.2_Silent_p.R39R|MRAP_uc002ypl.3_Silent_p.R98R	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein (MRAP), transcript variant 1, mRNA.	98					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			endometrium(1)|large_intestine(2)|lung(3)	6						CGTGCCACAGGGAACCCCTGG	0.632000														63			41		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63174098	63174098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63174098G>A	uc001nww.3	+	6	1471	c.1203G>A	c.(1201-1203)ctG>ctA	p.L401L	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.	401					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTTGGGCACTGAAATACATGA	0.483000														100			10		0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39798511	39798511	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39798511C>T	uc002okw.2	-	1	2078	c.2078G>A	c.(2077-2079)gGa>gAa	p.G693E		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	693						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGCCGCGGCTCCCCCAGGAAC	0.721000														9			5		0	0	1	0	0
NT5C3L	115024	broad.mit.edu	37	17	39985108	39985108	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39985108G>A	uc021txo.1	-	6	579	c.501C>T	c.(499-501)atC>atT	p.I167I	NT5C3L_uc021txn.1_Silent_p.I159I|NT5C3L_uc002hxy.4_Silent_p.I159I	NM_052935	NP_443167	C9JKC4	C9JKC4_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic III-like (NT5C3L), transcript variant 1, mRNA.	167						cytoplasm	5'-nucleotidase activity|magnesium ion binding			kidney(1)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	11		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.15)		TCATCTGTCGGATAATTTCTT	0.438000														59			34		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54395847	54395847	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54395847G>A	uc002qcq.1	+	6	1053	c.771G>A	c.(769-771)ggG>ggA	p.G257G	PRKCG_uc010eqz.1_Silent_p.G257G|PRKCG_uc010yef.1_Silent_p.G257G|PRKCG_uc010yeg.1_Silent_p.G257G|PRKCG_uc010yeh.1_Silent_p.G144G|Mir_324_uc021vbc.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	257	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACTTCATGGGGGCCATGTCCT	0.657000														23			6		0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131339657	131339657	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131339657C>T	uc004bvl.4	+	7	1099	c.957C>T	c.(955-957)gaC>gaT	p.D319D	SPTAN1_uc011mbg.2_Silent_p.D319D|SPTAN1_uc011mbh.2_Silent_p.D331D|SPTAN1_uc004bvm.4_Silent_p.D319D|SPTAN1_uc004bvn.4_Silent_p.D319D	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	319					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CTGAGGCTGACCGCCTGCAAC	0.498000														67			33		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102496012	102496012	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102496012G>A	uc001phc.3	-	0	52	c.39C>T	c.(37-39)ctC>ctT	p.L13L		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	13					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		AAGCCATGATGAGGAAGACAG	0.542000														63			9		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175678	207175678	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:207175678G>A	uc002vbp.2	+	4	6676	c.6426G>A	c.(6424-6426)aaG>aaA	p.K2142K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2142							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGCTTCCAAAGAAAAGAAATT	0.358000														71			20		0	0	1	0	0
AGBL4	84871	broad.mit.edu	37	1	49119122	49119122	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:49119122C>T	uc010omx.1	-	8	919	c.761_splice	c.e8-1	p.G254_splice	AGBL4_uc001cru.2_Splice_Site_p.G242_splice|AGBL4_uc010omw.1_Splice_Site|AGBL4_uc010omy.1_Splice_Site_p.G65_splice|AGBL4_uc001crv.1_Splice_Site_p.G95_splice	NM_032785	NP_116174	Q5VU57	CBPC6_HUMAN	Homo sapiens ATP/GTP binding protein-like 4 (AGBL4), mRNA.	242					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		AGTCAATGATCCCTAGGGAAA	0.453000														6			3		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186266028	186266028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:186266028C>T	uc001gru.4	+	1	72	c.21C>T	c.(19-21)ccC>ccT	p.P7P	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.P7P|PRG4_uc009wyl.3_Silent_p.P7P|PRG4_uc009wym.3_Silent_p.P7P|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	7					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AAACACTTCCCATTTACCTGT	0.373000														44			21		0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36054167	36054167	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36054167C>T	uc002oal.1	-	2	189	c.160G>A	c.(160-162)Gac>Aac	p.D54N		NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	54					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	AGCTGGTGGTCGTTCTGTGTG	0.652000														188			69		0	0	1	0	0
CLDN14	23562	broad.mit.edu	37	21	37833960	37833960	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:37833960G>A	uc021wja.1	-	0	34	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	CLDN14_uc002yvn.1_Silent_p.L12L|CLDN14_uc002yvo.1_Silent_p.L12L|CLDN14_uc002yvk.1_Silent_p.L12L|CLDN14_uc002yvl.1_Silent_p.L12L|CLDN14_uc002yvm.1_Silent_p.L12L	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	12					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						AAGCTGAGCAGGAAGCCCAGA	0.697000														12			3		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52586576	52586576	+	Missense_Mutation	SNP	G	A	A	rs144206846	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:52586576G>A	uc002lfs.3	-	8	887	c.715C>T	c.(715-717)Ctc>Ttc	p.L239F	CCDC68_uc002lft.3_Missense_Mutation_p.L239F	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	239										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TGCTCCTGGAGAATGGAAATC	0.453000														73			26		0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101777979	101777979	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:101777979C>T	uc001pgl.3	-	3	693	c.97_splice	c.e3-1	p.D33_splice		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	33					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)		CTGAAGAGTCCTTTATATTAA	0.269000														10			6		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36596150	36596150	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:36596150C>T	uc021qgb.1	+	0	1296	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.S432S	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	432					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ATGTGAAGTCCGTGTGCATGA	0.567000									Familial Hemophagocytic Lymphohistiocytosis					45			20		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113075226	113075226	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113075226C>T	uc021qqp.1	+	3	712	c.340_splice	c.e3+1	p.Q114_splice	NCAM1_uc001pno.3_Splice_Site|NCAM1_uc001pnp.3_Splice_Site_p.Q114_splice|NCAM1_uc021qqo.1_Splice_Site_p.Q114_splice|NCAM1_uc001pnq.3_Splice_Site_p.Q114_splice|NCAM1_uc001pnr.3_Splice_Site_p.Q114_splice	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	116					axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane		p.Q106*(1)|p.Q115*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GAAGATCTTTCGTAAGAGCCT	0.517000														25			8		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141525	133141525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133141525G>A	uc003ytj.3	-	14	2828	c.2603C>T	c.(2602-2604)tCc>tTc	p.S868F	KCNQ3_uc003yti.3_Missense_Mutation_p.S748F|KCNQ3_uc010mdt.3_Missense_Mutation_p.S856F	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	868					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGGCTTATTGGAAGGGGTCCA	0.532000														67			6		0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50332845	50332845	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:50332845G>A	uc002egd.1	+	6	1247	c.979G>A	c.(979-981)Ggc>Agc	p.G327S	ADCY7_uc002egb.1_Missense_Mutation_p.G327S|ADCY7_uc002egc.2_Missense_Mutation_p.G327S	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	327	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CAAGATCCTCGGCGACTGCTA	0.627000														79			21		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50683792	50683792	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:50683792G>A	uc002lfe.2	+	7	1944	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	DCC_uc010xdr.1_Missense_Mutation_p.R291Q|DCC_uc010dpf.2_Missense_Mutation_p.R98Q	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	443	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R443Q(4)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTTTCCAGCCGATTTGTCCGT	0.527000														170			44		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413644	61413644	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61413644G>A	uc010qig.1	-	4	1589	c.1140C>T	c.(1138-1140)atC>atT	p.I380I		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	380					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GGCCCATGATGATTAAGGTAG	0.418000														82			42		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71839802	71839802	+	Missense_Mutation	SNP	C	T	T	rs138268837		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71839802C>T	uc010fen.3	+	38	4394	c.4253C>T	c.(4252-4254)cCc>cTc	p.P1418L	DYSF_uc010fei.3_Missense_Mutation_p.P1417L|DYSF_uc010feh.3_Missense_Mutation_p.P1386L|DYSF_uc002sig.4_Missense_Mutation_p.P1386L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P1431L|DYSF_uc010fee.3_Missense_Mutation_p.P1400L|DYSF_uc010fef.3_Missense_Mutation_p.P1417L|DYSF_uc002sie.3_Missense_Mutation_p.P1400L|DYSF_uc010feo.3_Missense_Mutation_p.P1432L|DYSF_uc010fej.3_Missense_Mutation_p.P1387L|DYSF_uc010fel.3_Missense_Mutation_p.P1387L|DYSF_uc010fem.3_Missense_Mutation_p.P1401L|DYSF_uc002sif.3_Missense_Mutation_p.P1401L|DYSF_uc010fek.3_Missense_Mutation_p.P1418L|DYSF_uc010yqy.2_Missense_Mutation_p.P281L|DYSF_uc010yqz.2_Missense_Mutation_p.P140L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1400						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TACTGCCCCCCCATCACCGTC	0.622000														81			26		0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294075	124294075	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124294075C>T	uc010sak.2	-	0	693	c.693G>A	c.(691-693)gaG>gaA	p.E231E		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		TGGATCTGCCCTCTGCAGAAG	0.438000														55			6		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278576	36278576	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36278576C>T	uc002obs.2	+	20	2770	c.2626C>T	c.(2626-2628)Ccc>Tcc	p.P876S	ARHGAP33_uc002obt.2_Missense_Mutation_p.P873S|ARHGAP33_uc002obv.1_Missense_Mutation_p.P625S	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1013	Poly-Pro.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTCCCCAGCCCCCAGGGAGTG	0.697000														89			49		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86029	86029	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000211.1:86029G>A	uc003bnz.1	+	6		c.777_splice	c.e6-1		FLJ43315_uc003boa.3_Splice_Site					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CTCTCCATAGGGAGTTTATAG	0.398000														6			5		0	0	1	0	0
BC019672	0	broad.mit.edu	37	17	20320092	20320092	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:20320092C>T	uc002gwx.3	+	0		c.671C>T								Homo sapiens, clone IMAGE:4938453, mRNA.																		GGGGCTGACCCAGAGGAAGTC	0.567000														17			8		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45798380	45798380	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:45798380G>A	uc003bgc.3	-	4	739	c.687C>T	c.(685-687)taC>taT	p.Y229Y	SMC1B_uc003bgd.3_Silent_p.Y229Y|SMC1B_uc003bge.1_Silent_p.Y12Y	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	229					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTCATTATGGTATAGTTGAA	0.358000														111			49		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18865911	18865911	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:18865911C>T	uc021qvx.1	-	5	770	c.579G>A	c.(577-579)gtG>gtA	p.V193V	PLCZ1_uc001rdv.4_Silent_p.V89V|PLCZ1_uc001rdw.4_Intron|PLCZ1_uc001rdu.1_5'UTR|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	193	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GGCATCCTTTCACAAGGGCAC	0.348000														55			22		0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127646621	127646621	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:127646621G>A	uc010hsr.3	+	1	1088	c.1085G>A	c.(1084-1086)gGa>gAa	p.G362E	KBTBD12_uc003ejy.4_5'UTR|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Missense_Mutation_p.E4K|KBTBD12_uc003ejz.2_Missense_Mutation_p.G362E	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	362										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CATGATAGAGGAAACCAGTTT	0.368000														179			65		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926341	1926341	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1926341C>T	uc002qxe.3	-	9	2027	c.1200G>A	c.(1198-1200)gcG>gcA	p.A400A	MYT1L_uc002qxd.3_Silent_p.A400A|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	400					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CATCCTCCTTCGCACAGCTGG	0.597000														25			17		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41550893	41550893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41550893C>T	uc002yyq.1	-	14	3360	c.2908G>A	c.(2908-2910)Gag>Aag	p.E970K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	970	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGCTGGGCTCGCTCTTGCCA	0.602000														47			16		0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156785878	156785878	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156785878C>T	uc009wsh.2	-	1	183	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	SH2D2A_uc001fqc.1_5'UTR|SH2D2A_uc001fqd.2_Missense_Mutation_p.E15K|SH2D2A_uc001fqe.2_Intron|SH2D2A_uc010phs.1_Missense_Mutation_p.E15K|NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.	15					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.H14H(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATGGGGGCTTCGTGACTCCCT	0.612000														29			4		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101918575	101918575	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:101918575C>T	uc003uyt.3	+	16	1635	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	CUX1_uc003uyw.3_Missense_Mutation_p.S457F|CUX1_uc003uyv.3_Missense_Mutation_p.S487F|CUX1_uc003uyu.3_Missense_Mutation_p.S501F|CUX1_uc011kkn.2_Missense_Mutation_p.S464F	NM_001913	NP_001904	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 2, mRNA.	315					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCACTGCTTTCCATCATCTCC	0.642000														72			30		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29142318	29142318	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29142318G>A	uc011dlm.2	+	0	1008	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	302					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						AAGGGGCAGCGAAGAGACTAT	0.453000														71			18		0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71125403	71125403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:71125403G>A	uc002ass.3	-	2	535	c.464C>T	c.(463-465)tCa>tTa	p.S155L		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	155	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AAGGACCACTGAATACTTCAA	0.502000														80			24		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130511741	130511741	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130511741G>A	uc004bsc.3	-	4	1030	c.888C>T	c.(886-888)ctC>ctT	p.L296L	SH2D3C_uc010mxo.3_Silent_p.L136L|SH2D3C_uc004bry.3_Silent_p.L138L|SH2D3C_uc004brz.4_5'UTR|SH2D3C_uc011mak.2_5'UTR|SH2D3C_uc004bsb.3_Silent_p.L228L|SH2D3C_uc004bsa.3_Silent_p.L139L	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	296	SH2.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GATAGCGCACGAGGGCGGGCA	0.587000														59			7		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	174951855	174951855	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:174951855C>T	uc003fit.3	+	2	767	c.680C>T	c.(679-681)tCt>tTt	p.S227F	NAALADL2_uc003fiu.1_Missense_Mutation_p.S220F|NAALADL2_uc010hwy.1_Missense_Mutation_p.S49F	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	227					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCAGGCCCTTCTCCCAGCACT	0.473000														69			40		0	0	1	0	0
MSL3P1	151507	broad.mit.edu	37	2	234775285	234775285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234775285G>A	uc010znf.2	-	1	795	c.557C>T	c.(556-558)tCg>tTg	p.S186L						Homo sapiens male-specific lethal 3 homolog (Drosophila) pseudogene 1 (MSL3P1), non-coding RNA.																		GGTGTGGGGCGAGGACCGCCT	0.617000														52			9		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80044225	80044225	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:80044225G>A	uc002kdu.3	-	21	3754	c.3637C>T	c.(3637-3639)Cct>Tct	p.P1213S	FASN_uc002kdw.1_Missense_Mutation_p.P429S	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1213					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	p.P1213L(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CTGAGCAGAGGGTCCTCTGGC	0.667000														19			7		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430806	37430806	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:37430806G>A	uc021ppc.1	+	6	912	c.813G>A	c.(811-813)gaG>gaA	p.E271E	ANKRD30A_uc001iza.1_Silent_p.E271E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	327						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.D270E(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CACCTGATGAGGCTGCATCCT	0.473000														55			17		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087069	92087069	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92087069C>T	uc001pdj.4	+	0	1808	c.1791C>T	c.(1789-1791)atC>atT	p.I597I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	597	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGTCACATCACAGCAGTCT	0.393000										TCGA Ovarian(4;0.039)				32			16		0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64892501	64892501	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:64892501G>A	uc001xhb.3	+	9	1296	c.909G>A	c.(907-909)tgG>tgA	p.W303*	MTHFD1_uc010aqe.2_Nonsense_Mutation_p.W339*|MTHFD1_uc010aqf.3_Nonsense_Mutation_p.W359*	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	303	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	p.W303*(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CAGGAAAGTGGATGATTCAGT	0.338000														80			37		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36215909	36215909	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36215909C>T	uc021usv.1	+	9	3449	c.3449C>T	c.(3448-3450)cCc>cTc	p.P1150L	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	912	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCCCCTGGCCCCTTTGCTTCT	0.592000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				41			29		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077159	9077159	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9077159C>T	uc002mkp.3	-	2	10491	c.10287G>A	c.(10285-10287)tgG>tgA	p.W3429*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3430	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S3428Y(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						TCTGATCTGACCAAGAACTAG	0.458000														103			52		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924639	188924639	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:188924639C>T	uc003izh.1	+	3	1086	c.678C>T	c.(676-678)ttC>ttT	p.F226F	ZFP42_uc003izi.1_Silent_p.F226F|ZFP42_uc021xvm.1_Silent_p.F226F	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	226					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGAAAGCGTTCGTTGAGAGCT	0.507000														76			30		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220496784	220496784	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220496784C>T	uc002vmo.4	+	6	1196	c.987C>T	c.(985-987)gcC>gcT	p.A329A	SLC4A3_uc002vmn.2_Silent_p.A329A|SLC4A3_uc002vmp.4_Silent_p.A302A|SLC4A3_uc010fwm.3_5'UTR|SLC4A3_uc010fwn.1_5'UTR	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	302					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGGCCTGGCCCCCATCCTTC	0.637000														52			18		0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	628806	628806	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:628806C>T	uc002cho.3	+	5	1229	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L	PIGQ_uc010bqw.3_Missense_Mutation_p.P364L|PIGQ_uc002chn.3_Missense_Mutation_p.P364L|PIGQ_uc010uui.2_Missense_Mutation_p.P378L|PIGQ_uc002chp.3_5'Flank	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	364	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTCATGTCCCCCTTCGTGGAG	0.657000														66			44		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44083474	44083474	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44083474C>T	uc001cjr.3	+	24	4603	c.4263C>T	c.(4261-4263)atC>atT	p.I1421I	PTPRF_uc001cjs.3_Silent_p.I1412I|PTPRF_uc001cju.3_Silent_p.I810I|PTPRF_uc009vwt.3_Silent_p.I981I|PTPRF_uc001cjv.3_Silent_p.I892I|PTPRF_uc001cjw.3_Silent_p.I647I	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1421	Tyrosine-protein phosphatase 1.			I -> T (in Ref. 5; AAH48768).	transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGCCTACATCGCCACGCAGG	0.582000														51			15		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958867	50958867	+	Silent	SNP	C	T	T	rs145465195	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50958867C>T	uc002psf.2	+	19	2355	c.2304C>T	c.(2302-2304)atC>atT	p.I768I		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	768	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.I768I(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CAGGTGGCATCGATGGGTACC	0.622000														88			12		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96466679	96466679	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96466679C>T	uc001kjv.4	+	4	1107	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	CYP2C19_uc001kjw.4_Intron|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	261					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAACAGTGCTCGGGACTTTAT	0.328000														69			31		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155774885	155774885	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155774885G>A	uc001flz.2	-	10	1597	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	GON4L_uc001fly.1_Silent_p.P500P|GON4L_uc009wrh.1_Silent_p.P500P|GON4L_uc001fma.1_Silent_p.P500P|GON4L_uc001fmc.3_Silent_p.P500P|GON4L_uc001fmd.4_Silent_p.P500P|GON4L_uc009wri.3_Silent_p.P86P|GON4L_uc009wrj.2_Silent_p.P15P|GON4L_uc001fme.3_Silent_p.P328P|GON4L_uc001fmf.3_Silent_p.P194P	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	500					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CATCTTTCAGGGGCATCTTAG	0.483000														94			31		0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125805533	125805533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:125805533C>T	uc001lhn.3	-	1	930	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	CHST15_uc001lhm.3_Missense_Mutation_p.E66K|CHST15_uc010que.2_Missense_Mutation_p.E66K|CHST15_uc001lho.3_Missense_Mutation_p.E66K	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	66					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CCCCAGTTTTCGTTCCCTTCA	0.463000														81			9		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153085278	153085278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:153085278C>T	uc011dcy.2	+	10	1531	c.1504C>T	c.(1504-1506)Ccc>Tcc	p.P502S	GRIA1_uc003lva.4_Missense_Mutation_p.P492S|GRIA1_uc003luy.4_Missense_Mutation_p.P492S|GRIA1_uc003luz.4_Missense_Mutation_p.P397S|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.P412S|GRIA1_uc011dcx.2_Missense_Mutation_p.P423S|GRIA1_uc011dcz.2_Missense_Mutation_p.P502S|GRIA1_uc010jia.1_Missense_Mutation_p.P472S	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	492					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCTGTGGCTCCCTTAACTAT	0.358000														35			11		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131921984	131921984	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:131921984G>A	uc003ytd.4	-	5	1866	c.1610C>T	c.(1609-1611)gCa>gTa	p.A537V	ADCY8_uc010mds.3_Missense_Mutation_p.A537V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	537					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.A537T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAGTTTGTTTGCAATATCCAC	0.468000										HNSCC(32;0.087)				157			85		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14548453	14548453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:14548453C>T	uc021wtn.1	-	20	2542	c.2542G>A	c.(2542-2544)Gag>Aag	p.E848K	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	752					synaptic transmission	cytosol|plasma membrane	protein binding	p.E848E(1)		endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TCACTGGTCTCACTGAGGCTG	0.607000														14			4		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182359477	182359477	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:182359477C>T	uc002unu.3	+	11	2040	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L		NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	426					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATCAGCAAATCGTTAAGTATG	0.308000														93			41		0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56271348	56271348	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56271348C>T	uc002ivq.3	+	4	608	c.489C>T	c.(487-489)tcC>tcT	p.S163S		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	163				S -> C (in Ref. 3; AA sequence).	hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TAGGGGCCTCCAACCAGGCTC	0.667000														41			16		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57476416	57476416	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57476416G>A	uc009vzx.1	-	13	1940	c.1620C>T	c.(1618-1620)ccC>ccT	p.P540P	DAB1_uc001cyt.1_Silent_p.P538P|DAB1_uc001cyq.1_Silent_p.P538P|DAB1_uc001cyr.1_Silent_p.P454P|DAB1_uc009vzw.1_Silent_p.P522P|DAB1_uc001cys.1_Silent_p.P540P	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	573					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCTCCCCACTGGGCTCACCAA	0.443000														98			38		0	0	1	0	0
NACAP1	83955	broad.mit.edu	37	8	102381246	102381246	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:102381246G>A	uc003ykc.1	+	0	126	c.109G>A	c.(109-111)Gag>Aag	p.E37K	NACAP1_uc010mbs.1_Non-coding_Transcript					Homo sapiens nascent-polypeptide-associated complex alpha polypeptide pseudogene 1 (NACAP1), non-coding RNA.																		GTCAGTACCAGAGCTTGAAGA	0.517000														88			7		0	0	1	0	0
NARFL	64428	broad.mit.edu	37	16	782336	782337	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:782336_782337GG>AA	uc002cjr.3	-	7	872_873	c.860_861CC>TT	c.(859-861)tcc>tTT	p.S287F	NARFL_uc002cjp.3_Missense_Mutation_p.S185F|NARFL_uc002cjq.3_Missense_Mutation_p.S185F|NARFL_uc021tab.1_Non-coding_Transcript|NARFL_uc010uuq.1_Missense_Mutation_p.P96F	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	Homo sapiens nuclear prelamin A recognition factor-like (NARFL), mRNA.	287					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GGTCGGGGAGGGAGACGCCCTC	0.530000														161			66		0	0	1	0	0
AK309922	0	broad.mit.edu	37	10	49313271	49313271	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:49313271C>T	uc009xny.1	-	2		c.445G>A								Homo sapiens cDNA, FLJ99963.																		CCTGTCTCTTCCGAAGGGGCC	0.463000														73			46		0	0	1	0	0
MRPL1	65008	broad.mit.edu	37	4	78804493	78804493	+	Missense_Mutation	SNP	G	A	A	rs116727867	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:78804493G>A	uc003hku.2	+	2	439	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA.	81							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TATGGAAGGCGAACCTGAGGA	0.333000														72			27		0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48414334	48414334	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48414334C>T	uc003csr.3	+	1	263	c.77C>T	c.(76-78)tCc>tTc	p.S26F	FBXW12_uc010hjv.3_Intron|FBXW12_uc003css.3_Missense_Mutation_p.S26F|FBXW12_uc010hjw.3_Intron	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	26	F-box.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGCAGGTTTCCCAGGTGAAC	0.542000														101			18		0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100530112	100530112	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:100530112C>T	uc011cej.2	+	11	1841	c.1828C>T	c.(1828-1830)Cta>Tta	p.L610L	MTTP_uc003hvc.4_Silent_p.L583L	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	583	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TCAAGACATCCTACGTTTTGA	0.403000														110			30		0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6261655	6261655	+	Splice_Site	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:6261655A>G	uc001ije.3	+	7	1007	c.623_splice	c.e7+1	p.R208_splice	PFKFB3_uc001ijd.3_Splice_Site_p.R188_splice|PFKFB3_uc009xii.3_Splice_Site|PFKFB3_uc010qaw.2_Splice_Site_p.R222_splice|PFKFB3_uc001ijf.3_Splice_Site_p.R208_splice	NM_004566	NP_004557	Q16875	F263_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.	208	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CAAATGCGACAGGTGATTCCC	0.502000														66			16		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325254	158325254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158325254C>T	uc001fse.3	+	2	813	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	CD1E_uc010pid.2_Missense_Mutation_p.R172C|CD1E_uc010pie.2_Missense_Mutation_p.R75C|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.R174C|CD1E_uc001fsf.3_Missense_Mutation_p.R174C|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Missense_Mutation_p.R75C|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.R174C|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	174					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen		p.R174L(2)		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)					AGTGCTCAATCGCTACCTAGA	0.507000														67			31		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26241088	26241088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:26241088C>T	uc001isn.2	+	2	409	c.49C>T	c.(49-51)Cct>Tct	p.P17S	MYO3A_uc009xko.1_Missense_Mutation_p.P17S|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.P17S|MYO3A_uc001ism.2_Missense_Mutation_p.P17S	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	17					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTTTCCTGATCCTTCTGATAC	0.333000														75			26		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22149821	22149821	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:22149821G>A	uc010vbq.2	+	21	2376	c.2280G>A	c.(2278-2280)ctG>ctA	p.L760L	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Silent_p.L768L	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	760						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCGTCCCCCTGGGGGCCAGAA	0.527000														34			4		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576177	33576177	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:33576177G>A	uc003jia.1	-	18	4117	c.3954C>T	c.(3952-3954)atC>atT	p.I1318I	ADAMTS12_uc010iuq.1_Silent_p.I1233I	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1318	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGTTTCCGACGATCCAGTGTG	0.453000										HNSCC(64;0.19)				90			40		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103648	168103648	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:168103648G>A	uc002udx.3	+	8	5835	c.5746G>A	c.(5746-5748)Gag>Aag	p.E1916K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E1741K|XIRP2_uc010fpq.3_Missense_Mutation_p.E1694K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1741					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTGAAAAAGGAGCTTCTCAA	0.353000														51			16		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121410779	121410779	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121410779G>A	uc010hrc.3	-	13	7558	c.7432C>T	c.(7432-7434)Cga>Tga	p.R2478*	GOLGB1_uc003eei.4_Nonsense_Mutation_p.R2473*|GOLGB1_uc003eej.4_Nonsense_Mutation_p.R2439*|GOLGB1_uc021xcy.1_Nonsense_Mutation_p.R2398*	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2473					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATGCGGTCTCGATCATTTTGG	0.413000														204			23		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286690	152286690	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152286690A>G	uc001ezu.1	-	2	708	c.672T>C	c.(670-672)acT>acC	p.T224T	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	224					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATTTTTGAGTCATTCTTC	0.348000									Ichthyosis					92			26		0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90010762	90010762	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:90010762G>A	uc001tbh.3	-	10	2065	c.1884C>T	c.(1882-1884)gaC>gaT	p.D628D	ATP2B1_uc001tbg.3_Silent_p.D628D|ATP2B1_uc001tbf.3_Silent_p.D298D	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	628					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TATCATCACGGTCCCTTGGTC	0.368000														106			17		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123451818	123451818	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:123451818C>T	uc003ego.3	-	10	1723	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N	MYLK_uc011bjw.2_Missense_Mutation_p.D481N|MYLK_uc003egp.3_Intron|MYLK_uc003egq.3_Missense_Mutation_p.D481N|MYLK_uc003egr.3_Intron|MYLK_uc003egs.3_Missense_Mutation_p.D305N	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	481	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTCCCACTGTCCCTGGTCCGG	0.577000														54			13		0	0	1	0	0
USP50	373509	broad.mit.edu	37	15	50833302	50833302	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:50833302C>T	uc021sky.1	-	3	784	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	USP50_uc021skx.1_Missense_Mutation_p.E104K	NM_203494	NP_987090	E9PP86	E9PP86_HUMAN	Homo sapiens ubiquitin specific peptidase 50 (USP50), mRNA.	202					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		GTGAAGACTTCGTTCTTGTAG	0.443000														36			15		0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28414151	28414151	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:28414151C>T	uc002het.3	+	18	3842	c.3650C>T	c.(3649-3651)cCt>cTt	p.P1217L	EFCAB5_uc010cse.3_Missense_Mutation_p.P972L|EFCAB5_uc010csf.3_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	1217							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CACAAAAATCCTCCTACCATC	0.418000														32			28		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75927692	75927692	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:75927692C>T	uc003kek.3	+	14	1843	c.1621C>T	c.(1621-1623)Ctg>Ttg	p.L541L	IQGAP2_uc010izv.2_Silent_p.L94L|IQGAP2_uc011csv.2_Silent_p.L94L|IQGAP2_uc003kel.3_Silent_p.L94L	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	541					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGGGGTTACTCTGGTGGTTGA	0.338000														49			10		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140731956	140731956	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140731956G>T	uc003ljo.2	+	0	2129	c.2129G>T	c.(2128-2130)cGc>cTc	p.R710L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljq.2_5'Flank|PCDHGC5_uc011daq.2_Missense_Mutation_p.R710L|PCDHGC5_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	716					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)			ATCGCCCTGCGCCTGCGACGT	0.612000														185			38		2.35968e-33	2.3744e-33	1	1	0
PRB4	5545	broad.mit.edu	37	12	11461789	11461789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:11461789C>T	uc001qzf.1	-	2	162	c.128G>A	c.(127-129)gGa>gAa	p.G43E	PRB4_uc001qzt.3_Missense_Mutation_p.G43E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	43	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTGGTTTCCTCCTTGTGGGCG	0.562000										HNSCC(22;0.051)				248			98		0	0	1	0	0
SAPCD2	89958	broad.mit.edu	37	9	139960772	139960772	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139960772G>A	uc011men.2	-	1	742	c.626C>T	c.(625-627)cCc>cTc	p.P209L		NM_178448	NP_848543	Q86UD0	CI140_HUMAN	Homo sapiens chromosome 9 open reading frame 140 (C9orf140), mRNA.	209						cytoplasm|nucleus											TCGGGCACGGGGAGCCCGCCG	0.701000														19			4		0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89259965	89259965	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89259965G>A	uc002fmt.3	+	11	2020	c.1943G>A	c.(1942-1944)cGa>cAa	p.R648Q		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	648					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GACGACCTTCGAGACAATGTC	0.672000														15			12		0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93624558	93624558	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:93624558C>T	uc004aqz.3	+	3	854	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	SYK_uc004ara.3_Missense_Mutation_p.R217C|SYK_uc004arb.3_Missense_Mutation_p.R217C|SYK_uc004arc.3_Missense_Mutation_p.R217C|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	217	SH2 2.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GCTGCACTATCGCATCGACAA	0.577000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									28			6		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220161176	220161176	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220161176G>A	uc002vkz.3	-	16	2614	c.2373C>T	c.(2371-2373)atC>atT	p.I791I	PTPRN_uc010zlc.2_Silent_p.I701I|PTPRN_uc002vla.3_Silent_p.I762I|MIR153-1_uc010zld.1_5'Flank	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	791	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGAAGTCTGCGATGGTATGGG	0.602000														78			31		0	0	1	0	0
DEFB110	245913	broad.mit.edu	37	6	49989596	49989596	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:49989596G>A	uc003pac.3	-	0	99	c.53C>T	c.(52-54)cCa>cTa	p.P18L	DEFB110_uc011dwr.2_Missense_Mutation_p.P18L	NM_001037497	NP_001032586	Q30KQ9	DB110_HUMAN	Homo sapiens defensin, beta 110 locus (DEFB110), transcript variant 1, mRNA.	18					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					CATATTACCTGGTAAAATTGT	0.303000														50			14		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285897	223285897	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:223285897G>A	uc021pjl.1	-	0	477	c.477C>T	c.(475-477)agC>agT	p.S159S	TLR5_uc001hnv.2_Silent_p.S159S|TLR5_uc001hnw.2_Silent_p.S159S	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	159					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GAAGGTAAAGGCTACGAATCT	0.378000														103			25		0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46607818	46607818	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:46607818C>T	uc002ruv.3	+	11	2517	c.2007C>T	c.(2005-2007)ccC>ccT	p.P669P	EPAS1_uc002ruw.3_Silent_p.P135P	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	669					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CGTTGGGGCCCCCTGTCTCTC	0.587000														118			45		0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100222168	100222168	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:100222168G>A	uc003knk.3	-	2	710	c.382C>T	c.(382-384)Cta>Tta	p.L128L	ST8SIA4_uc003knl.3_Silent_p.L128L	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	128					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ACTTCAGGTAGGAGGCTATGT	0.438000														129			42		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197019875	197019875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197019875C>T	uc001gtt.1	-	9	1734	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	564	Sushi 9.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CAATAGGCCTCCCTAGATCCT	0.338000														54			15		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66434820	66434820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:66434820G>A	uc002eom.4	+	10	1894	c.1738G>A	c.(1738-1740)Gag>Aag	p.E580K		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	580	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CAAGTGCAACGAGCAGGGCGA	0.602000														69			17		0	0	1	0	0
PAQR7	164091	broad.mit.edu	37	1	26189653	26189653	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26189653G>A	uc021ojm.1	-	0	678	c.678C>T	c.(676-678)ttC>ttT	p.F226F	PAQR7_uc001bkx.3_Silent_p.F226F	NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	Homo sapiens progestin and adipoQ receptor family member VII (PAQR7), mRNA.	226					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CGGAGGACACGAAGATACGAT	0.577000														63			29		0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74883703	74883703	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74883703C>T	uc002aye.3	+	5	1294	c.1093C>T	c.(1093-1095)Ctt>Ttt	p.L365F	ARID3B_uc002ayd.3_Missense_Mutation_p.L365F|ARID3B_uc010bjs.1_Missense_Mutation_p.L70F	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	365	Interaction with RB1.				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						CTTTCCCATCCTTGGGCTTGG	0.622000														171			31		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39008179	39008179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39008179C>T	uc002oit.3	+	65	9996	c.9866C>T	c.(9865-9867)cCc>cTc	p.P3289L	RYR1_uc002oiu.3_Missense_Mutation_p.P3289L|RYR1_uc002oiv.1_Missense_Mutation_p.P209L|RYR1_uc010xuf.1_Missense_Mutation_p.P209L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3289					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGCGCGGGCCCGAGGCACCC	0.667000														31			20		0	0	1	0	0
RAB25	57111	broad.mit.edu	37	1	156038175	156038175	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156038175C>T	uc001fnc.3	+	2	580	c.354C>T	c.(352-354)atC>atT	p.I118I		NM_020387	NP_065120	P57735	RAB25_HUMAN	Homo sapiens RAB25, member RAS oncogene family (RAB25), mRNA.	118					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					AAGCCACGATCGTCGTCATGC	0.592000														91			22		0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6748162	6748162	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6748162G>A	uc001qpu.1	-	8	1515	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	LPAR5_uc001qps.2_5'Flank|LPAR5_uc010sff.1_5'UTR|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Silent_p.S456S	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	489						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GGCTTTTGAAGGAACAGTAGT	0.532000														97			9		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46825915	46825915	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46825915C>T	uc003oyo.3	-	16	4014	c.3725G>A	c.(3724-3726)gGg>gAg	p.G1242E	GPR116_uc011dwj.1_Missense_Mutation_p.G797E|GPR116_uc011dwk.1_Missense_Mutation_p.G671E|GPR116_uc003oyp.3_Missense_Mutation_p.G1100E|GPR116_uc003oyq.3_Missense_Mutation_p.G1242E|GPR116_uc010jzi.1_Missense_Mutation_p.G914E	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1242					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAGGTTGGTCCCTGGGAACAC	0.488000														67			27		0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6890533	6890533	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:6890533C>T	uc002knc.3	+	13	4894	c.1683C>T	c.(1681-1683)ctC>ctT	p.L561L	ARHGAP28_uc002kne.3_Silent_p.L454L|ARHGAP28_uc010wzi.2_Silent_p.L436L|ARHGAP28_uc002knf.3_Silent_p.L445L	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	436					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GGAAGACCCTCGAGCGGGAGG	0.473000														26			9		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90744579	90744579	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90744579G>A	uc011lti.2	-	3	3402	c.3373C>T	c.(3373-3375)Ccc>Tcc	p.P1125S	DQ587746_uc004apx.1_5'Flank	NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	1125																	TCTCTGTTGGGACGACTCTGG	0.522000														120			38		0	0	1	0	0
FAM58BP	339521	broad.mit.edu	37	1	200182892	200182892	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:200182892C>T	uc009wzi.1	+	0	237	c.201C>T	c.(199-201)atC>atT	p.I67I		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	67					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						GCGAGACCATCCTGGACGCCT	0.527000														150			32		0	0	1	0	0
EFHD1	80303	broad.mit.edu	37	2	233546349	233546349	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233546349G>A	uc002vtc.3	+	3	848	c.640G>A	c.(640-642)Gat>Aat	p.D214N	EFHD1_uc010fyf.3_Missense_Mutation_p.D118N|EFHD1_uc002vtd.3_Missense_Mutation_p.D102N	NM_025202	NP_079478	Q9BUP0	EFHD1_HUMAN	Homo sapiens EF-hand domain family, member D1 (EFHD1), transcript variant 1, mRNA.	214							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGCTGAGCAAGATGAGCGGAA	0.542000														101			58		0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173873345	173873345	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:173873345C>T	uc003isv.3	+	9	2043	c.1307C>T	c.(1306-1308)gCt>gTt	p.A436V		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	436						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TTCATGGCTGCTGTGGCCTGG	0.612000														36			13		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106163486	106163486	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106163486G>A	uc001kyh.3	+	14	2174	c.2040_splice	c.e14-1	p.R680_splice		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	680										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GTCTTATTCAGACAGGAGTTT	0.403000														23			4		0	0	1	0	0
PDZD3	79849	broad.mit.edu	37	11	119058284	119058284	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:119058284C>T	uc001pwb.3	+	3	1254	c.730C>T	c.(730-732)Cct>Tct	p.P244S	PDZD3_uc001pvz.3_Missense_Mutation_p.P178S|PDZD3_uc010rzd.2_Missense_Mutation_p.P165S|PDZD3_uc001pvy.3_Missense_Mutation_p.P178S|PDZD3_uc001pwa.3_5'UTR			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	244	PDZ 2.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CAATCAGGGTCCTTTCTGGTT	0.582000														8			3		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37036109	37036109	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:37036109C>T	uc002rpl.3	+	14	2186	c.1884C>T	c.(1882-1884)gcC>gcT	p.A628A	VIT_uc002rpm.3_Silent_p.A613A|VIT_uc010ezv.3_Silent_p.A591A|VIT_uc010ezw.3_Silent_p.A592A	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	613	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GGATCCCAGCCATGGCTGCCC	0.582000														37			14		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55874926	55874926	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55874926G>A	uc003tqz.2	-	7	960	c.843C>T	c.(841-843)ttC>ttT	p.F281F		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	281					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGAGCTTAACGAAGTCACAGT	0.328000														56			26		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10084865	10084865	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10084865G>A	uc002mmq.1	-	46	3572	c.3486C>T	c.(3484-3486)gtC>gtT	p.V1162V		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1162	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)			CGACGTCTCCGACCTCCCCTT	0.592000														52			26		0	0	1	0	0
LOC442459	442459	broad.mit.edu	37	X	98975767	98975767	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:98975767C>T	uc011mrd.1	-	6		c.832G>A								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		GTAGTCAGATCCATGGCCCAT	0.428000														6			4		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126241172	126241172	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126241172T>G	uc003ifj.4	+	0	3606	c.3606T>G	c.(3604-3606)gaT>gaG	p.D1202E		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1202	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACATGAAGGATATAAATGATA	0.418000														64			22		0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37871608	37871608	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:37871608C>T	uc002hso.3	+	9	1456	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	ERBB2_uc010cwa.3_Silent_p.I391I|ERBB2_uc002hsm.3_Silent_p.I376I|ERBB2_uc002hsp.3_Silent_p.I209I|ERBB2_uc010cwb.3_Silent_p.I406I|ERBB2_uc010wek.2_Silent_p.I130I|ERBB2_uc002hsl.3_Silent_p.I376I	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	406					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGGAAGAGATCACAGGTGGGC	0.592000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				24			14		0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208842195	208842195	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:208842195G>T	uc002vcl.2	-	2	1216	c.726C>A	c.(724-726)ttC>ttA	p.F242L	PLEKHM3_uc002vcm.2_Missense_Mutation_p.F242L	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	242	PH 1.				intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGAGGCTGTAGAAGTATAAGT	0.448000														135			41		2.37825e-27	2.39249e-27	1	1	0
SPTBN4	57731	broad.mit.edu	37	19	41021242	41021242	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41021242G>A	uc002ony.3	+	14	2876	c.2790G>A	c.(2788-2790)atG>atA	p.M930I	SPTBN4_uc002onx.3_Missense_Mutation_p.M930I|SPTBN4_uc002onz.3_Missense_Mutation_p.M930I|SPTBN4_uc010egx.3_5'UTR	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	930					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACCAAGAGATGAACAGCCTGA	0.562000														15			7		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171323129	171323129	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:171323129G>A	uc002ufy.3	+	24	3065	c.2922G>A	c.(2920-2922)ctG>ctA	p.L974L	MYO3B_uc002ufv.3_Silent_p.L961L|MYO3B_uc010fqb.1_Silent_p.L974L|MYO3B_uc002ufz.3_Silent_p.L974L|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Intron	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	974	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AGAGGGTGCTGGCCCAGCTCC	0.557000														121			35		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200880878	200880878	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:200880878C>T	uc001gvo.3	+	8	1554	c.1512C>T	c.(1510-1512)gtC>gtT	p.V504V	C1orf106_uc010ppm.2_Silent_p.V419V	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	504										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GAGAGCTGGTCGCCCACCACC	0.701000														45			41		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51192483	51192483	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51192483C>T	uc002psx.1	-	14	2037	c.2018G>A	c.(2017-2019)gGg>gAg	p.G673E	SHANK1_uc002psw.1_Missense_Mutation_p.G57E	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	673	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAACCCAAACCCCTCACTGTC	0.612000														151			18		0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30876227	30876227	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:30876227G>A	uc001rji.1	-	10	2760	c.2009C>T	c.(2008-2010)tCc>tTc	p.S670F	CAPRIN2_uc001rjf.1_Missense_Mutation_p.S467F|CAPRIN2_uc001rjg.1_Missense_Mutation_p.S337F|CAPRIN2_uc001rjh.1_Missense_Mutation_p.S670F|CAPRIN2_uc001rjk.4_Missense_Mutation_p.S670F|CAPRIN2_uc001rjj.1_Missense_Mutation_p.S337F|CAPRIN2_uc001rjl.4_Missense_Mutation_p.S670F|CAPRIN2_uc001rjm.1_Missense_Mutation_p.S337F	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	670					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACTTTGACTGGACAGATTTTG	0.358000														61			17		0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58131029	58131029	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:58131029C>T	uc001spq.3	-	0	1001	c.1001G>A	c.(1000-1002)gGg>gAg	p.G334E	AGAP2_uc001spp.3_Missense_Mutation_p.G334E|AGAP2_uc001spr.3_Intron	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	334	Interaction with PLCG1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TGCTCGGCCCCCCTCCCGGCC	0.677000														18			5		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530017	140530017	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140530017C>T	uc003lir.3	+	0	179	c.179C>T	c.(178-180)tCg>tTg	p.S60L		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	60	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S60S(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCTGGCTTCGCGGGGCGCT	0.507000														109			49		0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127967522	127967522	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:127967522C>T	uc001ljk.2	-	2	635	c.222G>A	c.(220-222)cgG>cgA	p.R74R	ADAM12_uc010qul.1_Silent_p.R74R|ADAM12_uc001ljm.3_Silent_p.R74R|ADAM12_uc001ljn.3_Silent_p.R74R|ADAM12_uc001ljl.4_Silent_p.R74R	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	74					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTTTGCTTTCCCGTTGTAGTC	0.343000														27			5		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69046410	69046410	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:69046410G>A	uc003xxv.1	+	31	3910	c.3883G>A	c.(3883-3885)Gaa>Aaa	p.E1295K		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1295					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAACAGCAAGGAAAATGAGAT	0.498000														63			36		0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30860294	30860294	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30860294C>T	uc003nrv.3	+	6	1116	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	DDR1_uc010jse.3_Silent_p.L358L|DDR1_uc003nrq.3_Silent_p.L358L|DDR1_uc003nrr.3_Silent_p.L358L|DDR1_uc003nrs.3_Silent_p.L358L|DDR1_uc003nrt.3_Silent_p.L358L|DDR1_uc011dms.2_Silent_p.L376L|DDR1_uc003nru.3_Silent_p.L358L|DDR1_uc003nry.2_Silent_p.L358L|DDR1_uc003nrx.2_Silent_p.L358L|DDR1_uc003nrw.1_Silent_p.L157L	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	358					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCTGGTTACTCTTCAGCGAAA	0.587000														121			13		0	0	1	0	0
TOB2P1	222699	broad.mit.edu	37	6	28186322	28186322	+	RNA	SNP	G	A	A	rs148940952	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28186322G>A	uc011dla.1	-	0		c.386C>T								Homo sapiens transducer of ERBB2, 2 pseudogene 1 (TOB2P1), non-coding RNA.											endometrium(1)	1						GTACCAGTGGGCTTCTTATTT	0.537000														18			6		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32657319	32657319	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:32657319C>T	uc001mtv.3	-	13	1152	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	CCDC73_uc001mtw.1_Missense_Mutation_p.E360K	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	370										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ATATGAGTTTCTTTAAGGGAT	0.254000														27			11		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22636798	22636798	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22636798C>T	uc001wdi.2	+	1	283	c.251C>T	c.(250-252)tCa>tTa	p.S84L	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_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|TCRA_uc021rpu.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 30, partial cds, clone: SEB 222.																		ATATCTGCTTCATTTAATGAA	0.468000														47			22		0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100348997	100348997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:100348997G>A	uc003huv.2	-	4	774	c.533C>T	c.(532-534)cCt>cTt	p.P178L	ADH7_uc021xqj.1_Missense_Mutation_p.P186L	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	178					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	GACTTTCTCAGGAGGAGCTGC	0.443000														62			15		0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3119049	3119049	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3119049C>T	uc002ctq.3	+	5	493	c.398C>T	c.(397-399)tCc>tTc	p.S133F	IL32_uc002ctn.3_Missense_Mutation_p.S87F|IL32_uc002ctk.3_Missense_Mutation_p.S87F|IL32_uc002cto.3_Missense_Mutation_p.S133F|IL32_uc010uwp.2_Missense_Mutation_p.S67F|IL32_uc010btb.3_Missense_Mutation_p.S77F|IL32_uc002ctl.3_Missense_Mutation_p.S87F|IL32_uc002ctm.3_Missense_Mutation_p.S87F|IL32_uc002ctp.3_Missense_Mutation_p.S67F|IL32_uc002ctr.3_Missense_Mutation_p.S67F|IL32_uc002ctt.3_Missense_Mutation_p.S87F|IL32_uc010uwr.2_Missense_Mutation_p.S47F|IL32_uc002ctu.3_Missense_Mutation_p.S78F|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	133					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GGCAACAGATCCCCTGTCCCG	0.567000														19			5		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408206	29408206	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29408206G>A	uc011dlp.2	+	0	491	c.414G>A	c.(412-414)cgG>cgA	p.R138R	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	138			R -> W (in dbSNP:rs17177646).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGAGCCACCGGGTGTGTCTAC	0.637000														65			8		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100585734	100585734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:100585734C>T	uc003dun.3	-	9	1083	c.998G>A	c.(997-999)cGa>cAa	p.R333Q	ABI3BP_uc003duo.2_Missense_Mutation_p.R326Q|ABI3BP_uc003dup.4_Missense_Mutation_p.R326Q	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	333						extracellular space		p.R333Q(3)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTTGTGGGTCGTGCTGAGAT	0.358000														40			16		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72111608	72111608	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:72111608G>A	uc003xyu.3	-	17	2386	c.1746C>T	c.(1744-1746)gcC>gcT	p.A582A	EYA1_uc003xyt.4_Silent_p.A549A|EYA1_uc003xyr.4_Silent_p.A547A|EYA1_uc010lzf.3_Silent_p.A509A|EYA1_uc003xys.4_Silent_p.A582A|EYA1_uc011lfe.2_Silent_p.A576A|EYA1_uc003xyv.3_Silent_p.A460A	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	582					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CATGGTGCAGGGCCATGAGGT	0.617000														20			7		0	0	1	0	0
MRE11A	4361	broad.mit.edu	37	11	94180480	94180480	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:94180480G>A	uc009ywj.2	-	14	2017	c.1697C>T	c.(1696-1698)tCa>tTa	p.S566L	MRE11A_uc001peu.2_Missense_Mutation_p.S563L|MRE11A_uc001pev.2_Missense_Mutation_p.S563L			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	563					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	p.S563L(2)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GGTTGCTGCTGAGATGCTATC	0.483000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder					196			73		0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11191312	11191312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:11191312G>A	uc003mzv.2	-	4	957	c.790C>T	c.(790-792)Cct>Tct	p.P264S	NEDD9_uc010joz.2_Missense_Mutation_p.P264S|NEDD9_uc003mzw.3_Missense_Mutation_p.P118S	NM_006403	NP_006394	Q14511	CASL_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 9 (NEDD9), transcript variant 1, mRNA.	264					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	Golgi apparatus|cell cortex|focal adhesion|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CAGGTTGGAGGAATGTCATAA	0.557000														85			19		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89979993	89979993	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89979993G>A	uc003kju.3	+	27	6351	c.6255G>A	c.(6253-6255)gcG>gcA	p.A2085A	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2085					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTTAGTAGCGAAAGTACAGA	0.333000														20			11		0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57494895	57494895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:57494895C>T	uc003dit.2	-	5	695	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	DNAH12_uc003diu.2_Missense_Mutation_p.E172K	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	172	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GGACCTCCTTCATCTTCAAGC	0.313000														75			23		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94645345	94645345	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94645345G>A	uc001dqj.4	-	19	2785	c.2416C>T	c.(2416-2418)Ctt>Ttt	p.L806F	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.L372F	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	806	Rho-GAP.				Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TGTCTTAGAAGGTCTTTGCTT	0.289000														90			35		0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72842210	72842210	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72842210C>T	uc002jlt.1	-	10	2501	c.2345G>A	c.(2344-2346)gGg>gAg	p.G782E	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.G782E	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	782					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CCCACCGTCCCCCAGGAACTG	0.612000														104			34		0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38766521	38766521	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:38766521G>A	uc003tgy.3	-	27	2498	c.2472C>T	c.(2470-2472)ccC>ccT	p.P824P	VPS41_uc003tgz.3_Silent_p.P799P|VPS41_uc010kxn.3_Silent_p.P735P|VPS41_uc003tgx.3_Non-coding_Transcript	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	824					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGCTGGGCATGGGCAGGCACT	0.512000														88			21		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30531273	30531273	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30531273C>T	uc002dyi.4	+	29	3500	c.3324C>T	c.(3322-3324)ttC>ttT	p.F1108F	ITGAL_uc002dyj.4_Silent_p.F1024F|ITGAL_uc010vev.2_Silent_p.F342F	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	1108					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGCTCATTTTCATAGTGCTGT	0.587000														112			14		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19191795	19191795	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19191795C>T	uc002dfw.3	+	3	596	c.265C>T	c.(265-267)Ccg>Tcg	p.P89S	SYT17_uc002dfx.3_Missense_Mutation_p.P28S|SYT17_uc002dfy.3_Missense_Mutation_p.P85S	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	89						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GACCAATTCCCCGGATGGAAG	0.572000											OREG0023658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			17		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541273	55541273	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55541273G>A	uc010ril.2	+	0	360	c.360G>A	c.(358-360)atG>atA	p.M120I		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TAGCAGCGATGGCTTATGACC	0.433000														192			69		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47847945	47847945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:47847945G>A	uc003tny.2	-	51	7761	c.7727C>T	c.(7726-7728)tCc>tTc	p.S2576F	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2576					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AAGGTGGCCGGAAACTGCATA	0.527000														44			15		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96609693	96609693	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96609693C>T	uc010qnz.2	+	7	1169	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F	CYP2C19_uc010qny.2_Missense_Mutation_p.S368F	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	390					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ATATTAACTTCCCTCACTTCT	0.393000														166			78		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62672641	62672641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62672641G>A	uc021ooc.1	+	3	776	c.341G>A	c.(340-342)gGg>gAg	p.G114E	L1TD1_uc001dae.4_Missense_Mutation_p.G114E	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	114										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						caaaaaacagggatggtaggg	0.333000														116			34		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813687	123813687	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123813687G>A	uc010sab.2	-	0	859	c.859C>T	c.(859-861)Cca>Tca	p.P287S		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AAGATGAATGGGTTCAAGAGG	0.522000														227			26		0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158914789	158914789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158914789C>T	uc001ftb.3	+	6	1566	c.1316C>T	c.(1315-1317)cCt>cTt	p.P439L	PYHIN1_uc001ftc.3_Missense_Mutation_p.P430L|PYHIN1_uc001ftd.3_Missense_Mutation_p.P439L|PYHIN1_uc001fte.3_Missense_Mutation_p.P430L	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	439					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CTCAAGACTCCTCAGATGCCA	0.493000														133			39		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79440571	79440571	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:79440571C>T	uc003hlb.2	+	66	10916	c.10476C>T	c.(10474-10476)gcC>gcT	p.A3492A		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3487					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGGGCTGGGCCTCCTTGGAGC	0.527000														172			68		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75022211	75022211	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75022211G>A	uc001xqa.3	-	3	1403	c.1016C>T	c.(1015-1017)cCc>cTc	p.P339L		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	339					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTTACCCCAGGGGGATGAGGG	0.622000														128			21		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62738910	62738910	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62738910C>T	uc001dah.4	-	2	2243	c.1866G>A	c.(1864-1866)aaG>aaA	p.K622K	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	622										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCGGTGGCTCCTTGGGTGGGT	0.607000														41			23		0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155002584	155002584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155002584C>T	uc001fgm.3	-	6	1233	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	DCST2_uc009wpb.3_Non-coding_Transcript	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	385						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CGCCTGGCCTCGTGAGCACTG	0.652000														57			27		0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25961910	25961910	+	Silent	SNP	G	A	A	rs139636096		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:25961910G>A	uc010ayu.3	-	8	1849	c.1743C>T	c.(1741-1743)gtC>gtT	p.V581V		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	581					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACGTGACGACGACTGTGTTGC	0.587000														150			13		0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52862934	52862934	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52862934C>T	uc001sal.4	-	8	1655	c.1607G>A	c.(1606-1608)gGg>gAg	p.G536E		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	536	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GAGGCCACCCCCAATGGCTCT	0.592000														69			22		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14492705	14492705	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:14492705C>T	uc003jff.3	+	48	7668	c.7662C>T	c.(7660-7662)tcC>tcT	p.S2554S	TRIO_uc003jfg.3_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2554	SH3 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCAACATCTCCACCATGTTGG	0.502000														39			17		0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122776679	122776679	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:122776679G>A	uc003ied.3	-	5	750	c.566C>T	c.(565-567)cCc>cTc	p.P189L	BBS7_uc003iee.2_Missense_Mutation_p.P189L	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	189					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GACAGTAGGGGGTCCAGGAAC	0.348000									Bardet-Biedl syndrome					116			58		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084500	9084500	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9084500C>T	uc002mkp.3	-	0	7519	c.7315G>A	c.(7315-7317)Ggg>Agg	p.G2439R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2439	Ser-rich.|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						TTGGAGCCCCCATCAAGAGAA	0.502000														42			4		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156749	22156749	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22156749G>A	uc021urr.1	-	3	1236	c.1087C>T	c.(1087-1089)Cat>Tat	p.H363Y	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)				TCTCCAGTATGAATTACCTTA	0.388000														48			22		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28714076	28714076	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28714076G>A	uc002kwn.3	-	12	2156	c.1894C>T	c.(1894-1896)Cgt>Tgt	p.R632C	DSC1_uc002kwm.3_Missense_Mutation_p.R632C	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	632	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGCCGTTGACGAAGAATGGCA	0.353000														79			33		0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10555134	10555134	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10555134G>A	uc003wtd.1	+	2	296	c.267G>A	c.(265-267)acG>acA	p.T89T	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA.	89										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		AGGCTGTGACGATCCTGGGGA	0.587000														142			12		0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96789678	96789678	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:96789678C>T	uc010yui.2	-	8	1207	c.1207G>A	c.(1207-1209)Gga>Aga	p.G403R		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	403					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GGCTGGATTCCTGCTTCTGAA	0.592000														67			30		0	0	1	0	0
MRPL4	51073	broad.mit.edu	37	19	10368915	10368916	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10368915_10368916CC>TT	uc002mnm.3	+	6	617_618	c.463_464CC>TT	c.(463-465)ccc>TTc	p.P155F	MRPL4_uc002mnn.3_Missense_Mutation_p.P155F|MRPL4_uc002mno.3_Missense_Mutation_p.P155F	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	155					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TGCCCATGGCCCCCGGGGCCCC	0.639000														39			5		0	0	1	0	0
USP46	64854	broad.mit.edu	37	4	53476724	53476724	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:53476724G>A	uc003gzn.3	-	4	806	c.621C>T	c.(619-621)tcC>tcT	p.S207S	USP46_uc003gzm.4_Silent_p.S200S|USP46_uc011bzr.2_Silent_p.S184S|USP46_uc011bzs.2_Silent_p.S91S	NM_022832	NP_073743	P62068	UBP46_HUMAN	Homo sapiens ubiquitin specific peptidase 46 (USP46), transcript variant 1, mRNA.	207					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			AGTGGGTAATGGATGTATTCT	0.363000														31			15		0	0	1	0	0
NECAB2	54550	broad.mit.edu	37	16	84024144	84024144	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84024144C>T	uc002fhd.3	+	5	522	c.505C>T	c.(505-507)Ctc>Ttc	p.L169F	NECAB2_uc002fhe.3_Missense_Mutation_p.L86F	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN	Homo sapiens N-terminal EF-hand calcium binding protein 2 (NECAB2), mRNA.	169					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						GACCCGCTTCCTCCTGAAGGA	0.587000														54			26		0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7186949	7186949	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7186949C>T	uc002gfp.3	+	2	508	c.308C>T	c.(307-309)tCt>tTt	p.S103F	SLC2A4_uc010cmd.3_Non-coding_Transcript|SLC2A4_uc021tpa.1_Missense_Mutation_p.S93F	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	103					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGTATCATCTCTCAGTGGCTT	0.617000														45			26		0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56390337	56390337	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:56390337G>A	uc010bfn.3	-	7	1049	c.1049C>T	c.(1048-1050)tCa>tTa	p.S350L	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.S164L	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	253					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGAAAGGATTGAAGGATTTCC	0.423000														46			21		0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33696629	33696629	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:33696629G>A	uc010edh.3	+	4	1046	c.953G>A	c.(952-954)gGg>gAg	p.G318E	LRP3_uc010xrp.1_Missense_Mutation_p.G192E|LRP3_uc002nuk.4_Missense_Mutation_p.G192E	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	318	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GGCGAGCGCGGGGACCGCCTG	0.711000														23			3		0	0	1	0	0
FLYWCH2	114984	broad.mit.edu	37	16	2946512	2946512	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2946512C>T	uc002csa.3	+	2	433	c.62C>T	c.(61-63)tCc>tTc	p.S21F	FLYWCH2_uc010uwj.2_Missense_Mutation_p.S21F|FLYWCH2_uc010uwk.2_Missense_Mutation_p.S21F	NM_138439	NP_612448	Q96CP2	FWCH2_HUMAN	Homo sapiens FLYWCH family member 2 (FLYWCH2), transcript variant 1, mRNA.	21										central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						CAGGAGCCATCCCCCAAGCCA	0.652000														82			15		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45292968	45292968	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:45292968G>A	uc010olf.2	-	15	2397	c.2385C>T	c.(2383-2385)gcC>gcT	p.A795A	PTCH2_uc021omv.1_Silent_p.A795A|PTCH2_uc010olg.2_Silent_p.A493A	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	795					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCTGGTCAAAGGCAGCCTGGA	0.637000									Basal Cell Nevus syndrome					88			14		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23866398	23866398	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23866398G>A	uc001wjv.3	-	16	2102	c.2031C>T	c.(2029-2031)ccC>ccT	p.P677P		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	677	Actin-binding.|Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			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)		TCCGCTCATTGGGGATGATGC	0.552000														127			60		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26906074	26906074	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:26906074G>A	uc003jgs.1	-	4	974	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	CDH9_uc010iug.3_Missense_Mutation_p.P269S	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	269	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P269P(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTACTCTGGGGAAATCGAGGA	0.428000														171			56		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	48996764	48996764	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:48996764G>A	uc003gyv.3	+	4	822	c.640G>A	c.(640-642)Gga>Aga	p.G214R	CWH43_uc011bzl.2_Missense_Mutation_p.G187R	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	214					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTGGGTTTTTGGAGAAGTCTC	0.547000														116			46		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76412312	76412312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:76412312G>A	uc021rkq.1	+	19	3766	c.3431G>A	c.(3430-3432)cGa>cAa	p.R1144Q	LMO7_uc010thv.2_Missense_Mutation_p.R862Q|LMO7_uc001vjt.1_Missense_Mutation_p.R810Q|LMO7_uc001vjv.3_Missense_Mutation_p.R911Q|LMO7_uc010thw.2_Missense_Mutation_p.R788Q|LMO7_uc001vjw.1_Missense_Mutation_p.R817Q	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1196						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTAAAAAGGCGATCACAATTT	0.338000														40			9		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108380669	108380669	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:108380669G>A	uc001pkk.3	-	5	5676	c.5565C>T	c.(5563-5565)ctC>ctT	p.L1855L	EXPH5_uc010rvz.2_Silent_p.L1699L|EXPH5_uc010rvy.2_Silent_p.L1667L	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1855					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CACAGGAGGGGAGTTCAGAAA	0.448000														56			15		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8499829	8499829	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:8499829G>A	uc003zkk.3	-	24	2883	c.2140C>T	c.(2140-2142)Cct>Tct	p.P714S	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	714	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTGCGAGGAGGACCACTAGGA	0.443000										TSP Lung(15;0.13)				61			8		0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196581607	196581607	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196581607C>T	uc002utg.4	+	6	2157	c.1943C>T	c.(1942-1944)tCt>tTt	p.S648F	SLC39A10_uc002uth.4_Missense_Mutation_p.S648F|SLC39A10_uc010zgp.2_Missense_Mutation_p.S198F	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	648	His-rich.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CACAAGCATTCTCATCATTCC	0.488000														108			21		0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110681737	110681737	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:110681737C>T	uc011cft.2	-	4	922	c.714G>A	c.(712-714)atG>atA	p.M238I	CFI_uc003hzq.3_Missense_Mutation_p.M35I|CFI_uc003hzr.4_Missense_Mutation_p.M238I	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	238	LDL-receptor class A 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CACAGGCTTTCATCTGAGAAA	0.348000														68			30		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38783393	38783393	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38783393G>A	uc021yzh.1	+	25	3592	c.3483G>A	c.(3481-3483)gtG>gtA	p.V1161V	DNAH8_uc003ooe.2_Silent_p.V944V	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTACTGACGTGACCCATCAAA	0.453000														49			12		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122811931	122811931	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:122811931G>A	uc003vkm.3	-	2	281	c.256C>T	c.(256-258)Cac>Tac	p.H86Y	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	86						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AGCAGTAAGTGAAAATCCTTG	0.338000														79			26		0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22263514	22263514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:22263514C>T	uc004dah.3	+	20	2338	c.2135C>T	c.(2134-2136)cCc>cTc	p.P712L	PHEX_uc011mjr.2_Intron|PHEX_uc011mjs.2_Missense_Mutation_p.P615L	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	712					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GCTCACAGTCCCCCTCAGTTT	0.502000														96			18		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388862	48388862	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48388862G>A	uc001jez.3	-	0	2130	c.2016C>T	c.(2014-2016)gcC>gcT	p.A672A		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	672	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTGTGCGGTAGGCGCCCTGGG	0.667000														25			13		0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69718372	69718372	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:69718372G>A	uc004dyi.2	+	13	2169	c.1822G>A	c.(1822-1824)Gga>Aga	p.G608R	DLG3_uc004dyj.2_Missense_Mutation_p.G303R|DLG3_uc011mpn.2_Missense_Mutation_p.G157R	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	608					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TGTTGCAGAAGGACAAGAGGA	0.517000														13			8		0	0	1	0	0
O3FAR1	338557	broad.mit.edu	37	10	95347003	95347003	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95347003C>T	uc010qnt.2	+	3	827	c.771C>T	c.(769-771)ctC>ctT	p.L257L	O3FAR1_uc010qnu.2_Silent_p.L241L	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	257					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding			breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						GGAAGAGGCTCACGGTAAGCC	0.567000														53			26		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119929406	119929406	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:119929406C>T	uc001ehr.1	+	4	855	c.723C>T	c.(721-723)atC>atT	p.I241I	HAO2_uc001ehq.1_Silent_p.I241I	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	241	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TCCAGGGTATCATTGTTTCCA	0.453000														95			33		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45309885	45309885	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:45309885G>A	uc003bfn.3	-	4	799	c.648C>T	c.(646-648)ccC>ccT	p.P216P	PHF21B_uc011aqk.2_Intron|PHF21B_uc003bfm.3_Intron|PHF21B_uc011aql.2_Intron|PHF21B_uc011aqm.1_Intron	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	216							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		gtgatggggagggaggggtga	0.642000														40			20		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144995679	144995679	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144995679G>A	uc003zaf.1	-	31	8891	c.8721C>T	c.(8719-8721)gcC>gcT	p.A2907A	PLEC_uc003zab.1_Silent_p.A2770A|PLEC_uc003zac.1_Silent_p.A2774A|PLEC_uc003zad.2_Silent_p.A2770A|PLEC_uc003zae.1_Silent_p.A2738A|PLEC_uc003zag.1_Silent_p.A2748A|PLEC_uc003zah.2_Silent_p.A2756A|PLEC_uc003zaj.2_Silent_p.A2797A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2907	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGCGCGCTCGGCCGACAGCA	0.657000														64			20		0	0	1	0	0
GALP	85569	broad.mit.edu	37	19	56691959	56691959	+	Missense_Mutation	SNP	G	A	A	rs149853638		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56691959G>A	uc002qmo.1	+	2	174	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	GALP_uc010eti.2_Intron	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA.	31					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		ATCCAGGGACGAGGAGGCTGG	0.607000														54			10		0	0	1	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145473840	145473840	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:145473840C>T	uc021ouy.1	+	0	512	c.512C>T	c.(511-513)cCt>cTt	p.P171L	ANKRD34A_uc001enq.1_Missense_Mutation_p.P171L	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	171										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGGAGGACCCTGCTCCCGCC	0.627000														80			15		0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48047090	48047090	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:48047090C>T	uc004diz.1	-	7	720	c.667G>A	c.(667-669)Gac>Aac	p.D223N	SSX5_uc004dja.1_Missense_Mutation_p.D182N	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TCCTGAGGGTCGCTGATCTCT	0.483000														114			114		0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52710324	52710324	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52710324G>A	uc001saf.2	-	5	1032	c.969C>T	c.(967-969)acC>acT	p.T323T		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	323	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTCCTCCTTGGTGCGGCGCA	0.597000														80			7		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862740	14862740	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:14862740C>T	uc003bzc.3	+	0	2272	c.2162C>T	c.(2161-2163)tCc>tTc	p.S721F	FGD5_uc011avk.2_Missense_Mutation_p.S721F	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	721					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCCCCCTCCTCCCTCATCTTT	0.582000														61			25		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340778	121340778	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121340778G>A	uc003eeg.2	+	2	712	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	168					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CAGTGTGGAGGAAATGGGAGG	0.488000														38			15		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20486717	20486717	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20486717G>A	uc010bwe.3	+	7	1167	c.928G>A	c.(928-930)Ggt>Agt	p.G310S	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.G231S|ACSM2A_uc002dhf.4_Missense_Mutation_p.G310S|ACSM2A_uc002dhg.4_Missense_Mutation_p.G310S|ACSM2A_uc010vay.2_Missense_Mutation_p.G231S|ACSM2A_uc002dhh.4_5'Flank	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	310					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GAGTATGATGGGTGCCCCCAT	0.512000														96			34		0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168266990	168266990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:168266990C>T	uc001gfl.3	+	3	683	c.632C>T	c.(631-633)cCt>cTt	p.P211L	TBX19_uc001gfj.4_Missense_Mutation_p.P142L|TBX19_uc001gfm.3_5'UTR	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	211					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					AAGTACAATCCTTTTGCCAAA	0.338000														26			22		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48463602	48463602	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48463602G>A	uc003csw.2	-	5	1702	c.1432C>T	c.(1432-1434)Cct>Tct	p.P478S	PLXNB1_uc003csu.2_Missense_Mutation_p.P478S|PLXNB1_uc003csx.2_Missense_Mutation_p.P478S|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	478	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAAGCCACAGGAACCTTCAGA	0.592000														33			21		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151164261	151164261	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151164261C>T	uc011bod.2	-	3	3508	c.3508G>A	c.(3508-3510)Gaa>Aaa	p.E1170K		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1170					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTTTAGCTTCATTGGTGCTA	0.418000														273			106		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922292	24922292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24922292C>T	uc001ywo.3	+	0	1752	c.1278C>T	c.(1276-1278)atC>atT	p.I426I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	426	Pro-rich.				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)		CTTTGCCCATCCCTGACTTGG	0.547000														85			28		0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55336670	55336670	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:55336670C>T	uc002lgw.3	-	17	2097	c.1977G>A	c.(1975-1977)aaG>aaA	p.K659K	LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	659			Missing (in PFIC1).		ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CTTCAATTTCCTTGTAGCAAA	0.343000														49			12		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31709925	31709925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:31709925G>A	uc010dmi.3	-	1	622	c.324C>T	c.(322-324)ttC>ttT	p.F108F	NOL4_uc002kxr.4_5'UTR|NOL4_uc010xbt.2_Silent_p.F34F|NOL4_uc010dmh.3_Silent_p.F34F|NOL4_uc010xbu.2_Silent_p.F108F|NOL4_uc002kxt.4_Silent_p.F108F	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	108						nucleolus	RNA binding	p.D107V(1)		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						TAATGTCAAAGAAATCTTCAA	0.393000														81			30		0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61233692	61233692	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:61233692C>T	uc010fci.3	-	4	528	c.468_splice	c.e4+1	p.E156_splice	PUS10_uc002sao.3_Splice_Site_p.E156_splice|PUS10_uc010ypk.2_Splice_Site	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	Homo sapiens pseudouridylate synthase 10 (PUS10), mRNA.	156					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			ATGACCTTACCTCTCTTACAG	0.373000														70			5		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80419559	80419559	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:80419559C>T	uc003kha.2	+	15	2619	c.2569C>T	c.(2569-2571)Cgg>Tgg	p.R857W	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	857					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTCAACTCCTCGGCACCTCCG	0.532000														48			17		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11450874	11450874	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:11450874C>T	uc021zzo.1	-	18	4010	c.3758G>A	c.(3757-3759)cGa>cAa	p.R1253Q	THSD7A_uc021zzn.1_Missense_Mutation_p.R1251Q	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1253	TSP type-1 12.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCCATCACTTCGAACACAATC	0.403000										HNSCC(18;0.044)				48			20		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102445	168102445	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:168102445G>A	uc002udx.3	+	8	4632	c.4543G>A	c.(4543-4545)Gaa>Aaa	p.E1515K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E1340K|XIRP2_uc010fpq.3_Missense_Mutation_p.E1293K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1340					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATGACCAAGGAAGAAATCCC	0.358000														100			50		0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42940083	42940083	+	Silent	SNP	G	A	A	rs146924589	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:42940083G>A	uc002ihn.2	-	15	1866	c.1605C>T	c.(1603-1605)gcC>gcT	p.A535A	EFTUD2_uc010wje.1_Silent_p.A500A|EFTUD2_uc010wjf.1_Silent_p.A525A	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	535						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GGCAGTACCTGGCCACAGAGA	0.582000														10			7		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618198	77618198	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:77618198G>A	uc003yau.2	+	1	2262	c.1875G>A	c.(1873-1875)tcG>tcA	p.S625S	ZFHX4_uc003yat.1_Silent_p.S625S|ZFHX4_uc003yaw.1_Silent_p.S625S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	625						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S625L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGGGTCTTCGAGGTCTCTTG	0.532000										HNSCC(33;0.089)				48			19		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072199	17072199	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17072199G>A	uc002zlp.1	-	0	1502	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	414					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCATTTCTGTGGCCCCAGCTC	0.547000														60			25		0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3391322	3391322	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3391322C>T	uc001akg.4	+	8	1604	c.1356C>T	c.(1354-1356)agC>agT	p.S452S	ARHGEF16_uc001aki.3_Silent_p.S164S|ARHGEF16_uc001akj.3_Silent_p.S164S|ARHGEF16_uc010nzh.2_Silent_p.S156S	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	452	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGGCTGCCAGCCGTGCACTGA	0.632000														78			14		0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17447105	17447105	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:17447105C>T	uc003wxr.3	+	2	629	c.184C>T	c.(184-186)Cca>Tca	p.P62S		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	62	Ig-like C2-type 1.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CAATTCAGCACCAAAGACGCA	0.498000														112			23		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9389291	9389291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9389291C>T	uc021wam.1	+	18	1780	c.1765C>T	c.(1765-1767)Cat>Tat	p.H589Y	PLCB4_uc010gbw.1_Missense_Mutation_p.H589Y|PLCB4_uc010gbx.3_Missense_Mutation_p.H601Y|PLCB4_uc021wal.1_Missense_Mutation_p.H589Y|PLCB4_uc002wnh.3_Missense_Mutation_p.H436Y	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	589	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ACGCAATATTCATTATAACAT	0.358000														24			7		0	0	1	0	0
C2orf50	130813	broad.mit.edu	37	2	11284107	11284107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:11284107C>T	uc010yji.1	+	2	641	c.359C>T	c.(358-360)cCc>cTc	p.P120L	C2orf50_uc010yjj.1_Missense_Mutation_p.P120L	NM_182500	NP_872306	Q96LR7	CB050_HUMAN	Homo sapiens chromosome 2 open reading frame 50 (C2orf50), mRNA.	120										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		GACACAGTTCCCAGTTCCACG	0.582000														71			19		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20512748	20512748	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:20512748C>T	uc003gpr.1	+	10	1250	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F	SLIT2_uc003gps.1_Missense_Mutation_p.S349F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	349					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.S349S(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGACTACGCTCTCTGAATTCA	0.383000														68			22		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221334	140221334	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140221334C>T	uc003lhs.2	+	0	428	c.428C>T	c.(427-429)tCa>tTa	p.S143L	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_uc003lhr.1_Missense_Mutation_p.S143L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	158	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTTTGTTTCAGAATCCAGA	0.517000														113			49		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161300263	161300263	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:161300263G>A	uc010jiw.3	+	5	864	c.396G>A	c.(394-396)aaG>aaA	p.K132K	GABRA1_uc010jix.3_Silent_p.K132K|GABRA1_uc010jiy.3_Silent_p.K132K|GABRA1_uc003lyx.4_Silent_p.K132K|GABRA1_uc010jiz.3_Silent_p.K132K|GABRA1_uc010jja.3_Silent_p.K132K|GABRA1_uc010jjb.3_Silent_p.K132K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	132				Missing (in Ref. 4; CAA31925).	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ACAATGGAAAGAAGTCAGTGG	0.463000														55			9		0	0	1	0	0
PDP2	57546	broad.mit.edu	37	16	66919186	66919186	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:66919186C>T	uc021tjw.1	+	0	999	c.999C>T	c.(997-999)atC>atT	p.I333I	PDP2_uc002eqk.2_Silent_p.I333I	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	333					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GGACGATCATCATGGAGGACA	0.587000														47			6		0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25311436	25311436	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:25311436C>T	uc001rgk.3	-	3	250	c.168G>A	c.(166-168)gaG>gaA	p.E56E	CASC1_uc001rgj.3_Silent_p.E10E|CASC1_uc001rgm.4_Silent_p.E114E|CASC1_uc001rgl.3_Silent_p.E50E|CASC1_uc010sje.2_Intron|CASC1_uc010sjf.2_Intron|CASC1_uc010sjg.1_Silent_p.E50E|CASC1_uc010sjh.1_Non-coding_Transcript	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	50	Glu-rich.									breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ATTTTTCTTTCTCAATTCGCT	0.289000														34			28		0	0	1	0	0
HSD17B13	345275	broad.mit.edu	37	4	88243952	88243952	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:88243952G>A	uc003hqo.2	-	0	105	c.42C>T	c.(40-42)atC>atT	p.I14I	HSD17B13_uc010ikk.2_Silent_p.I14I	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.	14						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		AGGAGTAGATGATGGTGATCA	0.468000														47			19		0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36570342	36570342	+	Silent	SNP	G	A	A	rs144959929	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36570342G>A	uc003cgh.1	+	9	1014	c.975G>A	c.(973-975)ggG>ggA	p.G325G	STAC_uc011aya.1_Silent_p.G264G	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	325	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CCTTTCAGGGGAAAATTCAAG	0.338000														28			13		0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45829220	45829220	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:45829220G>A	uc002rus.3	-	2	159	c.83C>T	c.(82-84)tCa>tTa	p.S28L		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	28					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AGAGGCAGATGATCTAGAAGT	0.398000														92			36		0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119053962	119053962	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:119053962C>T	uc001pvu.3	+	9	2957	c.2742C>T	c.(2740-2742)ctC>ctT	p.L914L	NLRX1_uc001pvv.3_Intron|NLRX1_uc001pvw.3_Silent_p.L914L|NLRX1_uc001pvx.3_Silent_p.L914L|PDZD3_uc001pvz.3_5'Flank|PDZD3_uc010rzd.2_5'Flank|PDZD3_uc001pvy.3_5'Flank|PDZD3_uc001pwa.3_5'Flank|PDZD3_uc001pwb.3_5'Flank	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	914	Required for the repression of MAVS- induced interferon signaling.				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)		CAGTGATCCTCAGTGAAGTCC	0.617000														74			9		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75888726	75888726	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:75888726C>T	uc003kek.3	+	8	1105	c.883C>T	c.(883-885)Caa>Taa	p.Q295*		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	295					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGCAGAAATCCAAGGCAATAT	0.358000														124			56		0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233322985	233322985	+	Silent	SNP	G	A	A	rs143128875		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233322985G>A	uc002vst.4	+	8	1127	c.1050G>A	c.(1048-1050)gcG>gcA	p.A350A	ALPI_uc002vsu.4_Silent_p.A261A	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	350					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.A350V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TCACTGAGGCGGTCATGTTCG	0.627000														51			23		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87026001	87026001	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:87026001C>T	uc009wcs.3	+	2	452	c.408C>T	c.(406-408)gaC>gaT	p.D136D	CLCA4_uc009wct.3_5'UTR|CLCA4_uc009wcu.3_Intron	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	136						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.P135L(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)		TCACCCCTGACCTTCTACTTG	0.388000														69			35		0	0	1	0	0
STAC3	246329	broad.mit.edu	37	12	57642935	57642935	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57642935C>T	uc001snp.2	-	2	425	c.223G>A	c.(223-225)Gag>Aag	p.E75K	STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Missense_Mutation_p.E36K|STAC3_uc010srm.1_Intron	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	Homo sapiens SH3 and cysteine rich domain 3 (STAC3), mRNA.	75	Poly-Glu.				intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GGTGGctcctcctcctcctct	0.552000														64			30		0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89166025	89166025	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:89166025C>T	uc001pct.3	-	7	715	c.476_splice	c.e7-1	p.V159_splice	NOX4_uc009yvr.3_Splice_Site_p.V134_splice|NOX4_uc001pcu.3_Splice_Site_p.V85_splice|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Splice_Site_p.V159_splice|NOX4_uc009yvo.3_Splice_Site|NOX4_uc010rtu.2_Splice_Site|NOX4_uc009yvp.3_Splice_Site_p.V159_splice|NOX4_uc010rtv.2_Splice_Site_p.V135_splice|NOX4_uc009yvq.3_Splice_Site_p.V135_splice|NOX4_uc009yvs.1_Splice_Site	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	159	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGGCCAGGAACTATAAAAATG	0.353000														36			7		0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	27009158	27009158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:27009158C>T	uc003gsg.4	+	7	1513	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	STIM2_uc003gsh.4_Missense_Mutation_p.R329C|STIM2_uc010iex.3_Missense_Mutation_p.R329C|STIM2_uc010iey.3_Missense_Mutation_p.R40C	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	Homo sapiens stromal interaction molecule 2 (STIM2), transcript variant 2, mRNA.	329					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				cttcTAGGTTCGCATGGCTCT	0.383000														43			5		0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	86068206	86068206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:86068206G>A	uc004eew.2	+	8	1633	c.1463G>A	c.(1462-1464)cGa>cAa	p.R488Q	DACH2_uc004eex.2_Missense_Mutation_p.R475Q|DACH2_uc010nmq.2_Missense_Mutation_p.R354Q|DACH2_uc011mra.1_Missense_Mutation_p.R321Q|DACH2_uc010nmr.2_Missense_Mutation_p.R269Q|DACH2_uc004eey.3_Missense_Mutation_p.R181Q|DACH2_uc004eez.3_Missense_Mutation_p.R171Q	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	488	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.L487Q(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AAGGAGCTGCGACTGGAGCTC	0.413000														7			15		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3000022	3000022	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:3000022G>A	uc022aqr.1	-	40	6596	c.6206C>T	c.(6205-6207)tCg>tTg	p.S2069L	CSMD1_uc011kwj.2_Missense_Mutation_p.S1462L|CSMD1_uc010lrg.3_Missense_Mutation_p.S138L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2070	CUB 12.					integral to membrane		p.S2069L(1)|p.S1798L(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGGTTTTGCGAATGGTCACT	0.453000														43			11		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27197484	27197484	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:27197484C>T	uc011lno.2	+	10	2109	c.1667C>T	c.(1666-1668)tCg>tTg	p.S556L	TEK_uc003zqi.4_Missense_Mutation_p.S599L|TEK_uc011lnp.2_Missense_Mutation_p.S452L|TEK_uc003zqj.1_Missense_Mutation_p.S533L|5S_rRNA_uc022bex.1_5'Flank	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	599	Fibronectin type-III 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AACTTGACTTCGGTGCTACTT	0.463000														85			50		0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7846791	7846792	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7846791_7846792GG>AA	uc010rbg.2	-	0	728_729	c.728_729CC>TT	c.(727-729)tcc>tTT	p.S243F		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T242T(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGTGAGGTGGGAGGTGCAGGT	0.505000														88			23		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33624341	33624341	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:33624341C>T	uc003jia.1	-	13	2301	c.2138G>A	c.(2137-2139)gGa>gAa	p.G713E	ADAMTS12_uc010iuq.1_Intron	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	713	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E712Q(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATTACCAGATCCTTCCTTCTG	0.443000										HNSCC(64;0.19)				115			34		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43594307	43594307	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:43594307G>A	uc003tid.1	+	28	5232	c.4627G>A	c.(4627-4629)Gaa>Aaa	p.E1543K	HECW1_uc011kbi.1_Missense_Mutation_p.E1509K	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1543	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.E1522Q(1)|p.G1542G(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGTGCCCTACGAAGGCTTCGC	0.562000														35			9		0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100268	8100268	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:8100268G>A	uc001ijz.3	+	3	799	c.242_splice	c.e3-1	p.G81_splice	GATA3_uc001ika.3_Splice_Site_p.G81_splice	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	81					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TGCCCCACAGGGAGCCAGGTG	0.672000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""							61			33		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20489922	20489922	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20489922C>T	uc010bwe.3	+	10	1443	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	ACSM2A_uc010vax.1_Silent_p.L323L|ACSM2A_uc002dhf.4_Silent_p.L402L|ACSM2A_uc002dhg.4_Silent_p.L402L|ACSM2A_uc010vay.2_Silent_p.L323L|ACSM2A_uc002dhh.4_Silent_p.L32L	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.L402R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGGCAACGTCCTGCCCCCCGG	0.502000														75			8		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69683824	69683824	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69683824C>T	uc003hee.3	+	1	821	c.796C>T	c.(796-798)Cct>Tct	p.P266S	UGT2B10_uc011cam.2_Missense_Mutation_p.P182S	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	266					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTTTAAATTTCCTCATCCATT	0.383000														205			76		0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11505674	11505674	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:11505674G>A	uc001iks.1	-	13	1347	c.1304C>T	c.(1303-1305)cCc>cTc	p.P435L	USP6NL_uc001ikt.3_Missense_Mutation_p.P418L	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	418						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CCTGCTCTGGGGGTGCGGGGA	0.652000														38			16		0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132400950	132400950	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:132400950C>T	uc001uje.3	+	19	2154	c.1886C>T	c.(1885-1887)cCc>cTc	p.P629L		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	629					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TAGGCTGTGCCCTCCTTTGAC	0.692000														120			18		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43821264	43821264	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43821264C>T	uc001zrt.3	+	3	8060	c.7593C>T	c.(7591-7593)ctC>ctT	p.L2531L		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2531						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGGCAGCCCTCGACTCAGATG	0.587000														124			62		0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10280488	10280488	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10280488C>T	uc003bve.1	+	11	1606	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	510					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|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AGACGTTGCTCCCTTGGAGTG	0.557000														133			33		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221429	161221429	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:161221429G>A	uc011bpb.2	+	3	1133	c.1133G>A	c.(1132-1134)gGg>gAg	p.G378E		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	378	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CCTGTCACTGGGAAGTTTAAC	0.448000														29			11		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702138	181702138	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181702138G>A	uc009wxt.3	+	19	3111	c.2916G>A	c.(2914-2916)acG>acA	p.T972T	CACNA1E_uc001gow.3_Silent_p.T972T|CACNA1E_uc009wxs.3_Silent_p.T953T|CACNA1E_uc001gox.1_Silent_p.T198T	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	972					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.T972T(3)		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						AGGAGCCAACGATCCAAGAAG	0.562000														33			10		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230572	21230572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21230572C>T	uc002red.3	-	25	9296	c.9168G>A	c.(9166-9168)ttG>ttA	p.L3056L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3056					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AACGAACTTTCAAATTCCCTT	0.393000														70			24		0	0	1	0	0
C10orf47	254427	broad.mit.edu	37	10	11911718	11911718	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:11911718G>A	uc001ikx.3	+	3	775	c.621G>A	c.(619-621)ggG>ggA	p.G207G	LOC219731_uc001iky.2_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA.	207	Pro-rich.									central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						GGATGGCGGGGAACGAAGCCC	0.731000														6			7		0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71743780	71743780	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:71743780G>A	uc003twb.4	-	2	526	c.135C>T	c.(133-135)ttC>ttT	p.F45F	CALN1_uc003twa.4_Silent_p.F3F|CALN1_uc003twc.4_Silent_p.F3F	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	3	EF-hand 1.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.F45I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TCACATGGTGGAACGGCATCT	0.498000														47			12		0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34218898	34218898	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:34218898G>A	uc001mvl.2	-	2	1643	c.1218C>T	c.(1216-1218)ccC>ccT	p.P406P		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	220							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TCATTCTCGGGGGGTCCAGGT	0.587000														30			28		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45923856	45923856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:45923856G>A	uc010gzz.3	+	4	712	c.565G>A	c.(565-567)Gga>Aga	p.G189R	FBLN1_uc003bgg.1_Missense_Mutation_p.G151R|FBLN1_uc003bgh.3_Missense_Mutation_p.G151R|FBLN1_uc003bgi.1_Missense_Mutation_p.G151R|FBLN1_uc003bgj.1_Missense_Mutation_p.G151R	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	151	EGF-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	p.Q189H(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCAGGAGACCGGAGATTTGGA	0.572000														87			22		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114185980	114185980	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:114185980G>A	uc003ynu.3	-	3	839	c.680C>T	c.(679-681)tCg>tTg	p.S227L	CSMD3_uc003ynt.3_Missense_Mutation_p.S187L|CSMD3_uc011lhx.2_Missense_Mutation_p.S227L|CSMD3_uc010mcx.1_Missense_Mutation_p.S227L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	227	Sushi 1.					integral to membrane|plasma membrane				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						AAAATCCCACGAAGCTGTATT	0.433000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				132			17		0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131021480	131021480	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131021480G>A	uc011maw.2	-	18	1995	c.1982C>T	c.(1981-1983)gCc>gTc	p.A661V	GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004buh.3_Missense_Mutation_p.A134V|JA429730_uc022bod.1_5'Flank|Metazoa_SRP_uc022bof.1_5'Flank|DQ583692_uc022bog.1_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	661						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GGCCATCTCGGCCACCGCTTT	0.622000														30			12		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99439325	99439325	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:99439325C>T	uc002szf.1	-	6	1705	c.1411G>A	c.(1411-1413)Gga>Aga	p.G471R		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	471	Pro-rich.									NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						GTCCCCGCTCCTCTCTCGGGC	0.756000														34			13		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51900495	51900495	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:51900495C>T	uc003pah.1	-	27	3398	c.3122G>A	c.(3121-3123)gGc>gAc	p.G1041D	PKHD1_uc003pai.3_Missense_Mutation_p.G1041D	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1041	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAAACTAGAGCCTCGGATGGT	0.428000														52			26		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120984322	120984322	+	Missense_Mutation	SNP	G	A	A	rs150098939	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:120984322G>A	uc010rzo.2	+	4	685	c.685G>A	c.(685-687)Gag>Aag	p.E229K		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	229	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAGAACCCCCGAGATCGTGAA	0.478000														69			10		0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307132	39307132	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:39307132G>A	uc021wwc.1	-	1	1005	c.965C>T	c.(964-966)cCt>cTt	p.P322L	CX3CR1_uc021wwa.1_Missense_Mutation_p.P290L|CX3CR1_uc021wwb.1_Missense_Mutation_p.P290L|CX3CR1_uc003cjl.3_Missense_Mutation_p.P290L|CX3CR1_uc021wwd.1_Missense_Mutation_p.P290L	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	290					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		ATAGATGAGAGGATTCAGGCA	0.498000														87			41		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060569	9060569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9060569G>A	uc002mkp.3	-	2	27081	c.26877C>T	c.(26875-26877)ctC>ctT	p.L8959L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8961	Ser-rich.|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						ATGGCTCTGGGAGGCCTGGAT	0.463000														144			52		0	0	1	0	0
TBC1D20	128637	broad.mit.edu	37	20	428611	428611	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:428611G>A	uc002wds.3	-	1	316	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F	TBC1D20_uc002wdt.3_Non-coding_Transcript|TBC1D20_uc002wdv.3_5'UTR	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	Homo sapiens TBC1 domain family, member 20 (TBC1D20), mRNA.	60	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				TCAGTCAGGAGCCCTCCTTCA	0.527000														55			18		0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107773266	107773266	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:107773266C>T	uc003ymm.4	-	1	1199	c.1145G>A	c.(1144-1146)tGa>tAa	p.*382*		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	0					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTTGAAGGTTCACTTGAGTAG	0.413000														161			74		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052326	17052326	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:17052326C>T	uc011awc.2	+	2	1560	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Silent_p.F370F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	496	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGATAGTTTTCCGCAGTGTCA	0.398000														63			31		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633831	32633831	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:32633831G>A	uc003zrg.1	-	0	1837	c.1747C>T	c.(1747-1749)Cca>Tca	p.P583S	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.	583					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)		AGATTCCATGGATCTTTCACT	0.458000														261			117		0	0	1	0	0
HRH3	11255	broad.mit.edu	37	20	60791572	60791572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:60791572C>T	uc002yci.3	-	2	1125	c.828G>A	c.(826-828)ggG>ggA	p.G276G	HRH3_uc002ycf.2_Silent_p.G276G|HRH3_uc002ych.3_Intron|HRH3_uc002ycg.3_Intron	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	276					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CCTCACCCACCCCATACCTGT	0.756000														7			5		0	0	1	0	0
SERPINB8	5271	broad.mit.edu	37	18	61652454	61652454	+	Missense_Mutation	SNP	C	T	T	rs141770995		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61652454C>T	uc002ljv.3	+	5	864	c.695C>T	c.(694-696)cCc>cTc	p.P232L	SERPINB8_uc002ljt.3_Missense_Mutation_p.P232L|SERPINB8_uc002lju.3_Missense_Mutation_p.P232L|SERPINB8_uc010xex.2_Missense_Mutation_p.P50L	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	232					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				ATTCTGCTTCCCGATGACAAC	0.507000														51			14		0	0	1	0	0
VASH2	79805	broad.mit.edu	37	1	213147299	213147299	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:213147299C>T	uc001hjy.3	+	5	1086	c.882C>T	c.(880-882)atC>atT	p.I294I	VASH2_uc001hjv.2_Non-coding_Transcript|VASH2_uc001hjx.3_Silent_p.I229I|VASH2_uc010ptn.2_Silent_p.I190I|VASH2_uc001hjw.3_Silent_p.I250I	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN	Homo sapiens vasohibin 2 (VASH2), transcript variant 3, mRNA.	294					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		TCCTTCAGATCCTGAAACCTG	0.587000														29			17		0	0	1	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156725803	156725803	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:156725803C>T	uc003ipc.3	+	11	1780	c.1613C>T	c.(1612-1614)cCt>cTt	p.P538L	GUCY1B3_uc011cio.2_Missense_Mutation_p.P560L|GUCY1B3_uc011cip.2_Missense_Mutation_p.P518L|GUCY1B3_uc003ipd.3_Missense_Mutation_p.P466L|GUCY1B3_uc010iqf.3_Missense_Mutation_p.P505L|GUCY1B3_uc010iqg.3_Missense_Mutation_p.P509L|GUCY1B3_uc011ciq.2_Missense_Mutation_p.P466L	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA.	538	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CAGCGGATGCCTCGATACTGT	0.398000														100			13		0	0	1	0	0
RRP15	51018	broad.mit.edu	37	1	218458698	218458698	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:218458698G>A	uc001hlj.3	+	0	70	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K		NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN	Homo sapiens ribosomal RNA processing 15 homolog (S. cerevisiae) (RRP15), mRNA.	14						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		GAGTGAGGAAGAAAACCTGAA	0.547000														59			22		0	0	1	0	0
STBD1	8987	broad.mit.edu	37	4	77227995	77227995	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77227995G>A	uc003hka.3	+	0	817	c.73G>A	c.(73-75)Ggc>Agc	p.G25S	FAM47E_uc003hjy.3_Intron|FAM47E_uc011cbv.2_Intron|STBD1_uc011cbw.2_Intron	NM_003943	NP_003934	O95210	STBD1_HUMAN	Homo sapiens starch binding domain 1 (STBD1), mRNA.	25					carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	13			Lung(101;0.196)			GCTGCTGCGGGGCGGCCCTGG	0.697000											OREG0016232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			5		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185018440	185018440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:185018440C>T	uc003iwc.3	-	6	1217	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	359					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TCCATGAGCTCGTTGTCGTAG	0.567000														62			30		0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56277733	56277733	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56277733G>A	uc002ivq.3	+	9	1804	c.1685G>A	c.(1684-1686)cGa>cAa	p.R562Q		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	562					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						AACATGCAACGAAGCCGGGAC	0.617000											OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			21		0	0	1	0	0
HPCAL1	3241	broad.mit.edu	37	2	10560075	10560075	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:10560075C>T	uc002raj.3	+	2	566	c.192C>T	c.(190-192)ttC>ttT	p.F64F	HPCAL1_uc002ral.3_Silent_p.F64F|HPCAL1_uc010exe.3_Non-coding_Transcript|HPCAL1_uc010exf.3_Silent_p.F64F	NM_002149	NP_602293	P37235	HPCL1_HUMAN	Homo sapiens hippocalcin-like 1 (HPCAL1), transcript variant 1, mRNA.	64	EF-hand 2.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		CTTCCAAGTTCGCCGAGCACG	0.617000														79			9		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45958907	45958907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:45958907C>T	uc010gzz.3	+	15	2074	c.1927C>T	c.(1927-1929)Cgc>Tgc	p.R643C	FBLN1_uc003bgh.3_Missense_Mutation_p.R605C|FBLN1_uc003bgi.1_Intron|FBLN1_uc003bgj.1_Intron	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	618					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGTGGTTTTCCGCATGGGCCC	0.617000														172			67		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476983	20476983	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20476983C>T	uc010bwe.3	+	3	561	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.R29C|ACSM2A_uc002dhf.4_Missense_Mutation_p.R108C|ACSM2A_uc002dhg.4_Missense_Mutation_p.R108C|ACSM2A_uc010vay.2_Missense_Mutation_p.R29C	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	108					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.R108C(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCGTGGGGATCGTGTGGCAGT	0.572000														40			18		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207758215	207758215	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207758215C>T	uc001hfy.3	+	24	4314	c.4174C>T	c.(4174-4176)Cgt>Tgt	p.R1392C	CR1_uc009xcl.1_Missense_Mutation_p.R942C|CR1_uc001hfx.3_Missense_Mutation_p.R1842C|CR1_uc021pij.1_Missense_Mutation_p.R1392C	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1392					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACTTTCTGTTCGTGCTGGTCA	0.488000														86			41		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841951	94841951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:94841951G>A	uc002btj.3	+	0	522	c.457G>A	c.(457-459)Gag>Aag	p.E153K	MCTP2_uc010urg.1_Missense_Mutation_p.E153K|MCTP2_uc002bti.2_Missense_Mutation_p.E153K|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.E153K|MCTP2_uc002btg.4_Missense_Mutation_p.E153K|MCTP2_uc002bth.4_Missense_Mutation_p.E153K	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	153					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGCACCAGAAGAGCCAGAGGT	0.532000														101			29		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11004048	11004048	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:11004048G>A	uc002daj.4	+	12	2956	c.2823G>A	c.(2821-2823)acG>acA	p.T941T	CIITA_uc002dai.4_Silent_p.T940T|CIITA_uc002dak.4_Silent_p.T356T|CIITA_uc010bup.1_Missense_Mutation_p.R337Q	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	940			Missing (in BLS2).		interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCTCCAGGACGAGAAGTTCCT	0.567000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									20			5		0	0	1	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032136	46032136	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46032136C>T	uc002zfo.1	+	0	141	c.119C>T	c.(118-120)tCc>tTc	p.S40F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	40	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ACTGGCTCCTCCTGGCAGGTG	0.642000														109			15		0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29430209	29430209	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29430209G>A	uc003nmi.3	+	2	1106	c.663G>A	c.(661-663)caG>caA	p.Q221Q	OR2H1_uc003nmj.1_Silent_p.Q221Q|OR2H1_uc010jri.2_Silent_p.Q143Q|OR2H1_uc021ytr.1_Silent_p.Q221Q	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q221*(1)		large_intestine(5)|lung(12)	17						CCACTGCCCAGGCAGTGCTGA	0.532000														171			62		0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96970493	96970493	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96970493C>T	uc001kke.3	+	4	823	c.698C>T	c.(697-699)cCc>cTc	p.P233L	C10orf129_uc009xuu.1_Missense_Mutation_p.P143L	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	233					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		ACAGGAGCTCCCAAAATGGTC	0.507000														57			24		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3174071	3174071	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:3174071C>T	uc021xkv.1	+	29	4034	c.3889C>T	c.(3889-3891)Ctg>Ttg	p.L1297L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1297					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCTAGGATACCTGAAATCCTG	0.408000														126			11		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32259377	32259377	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32259377C>T	uc001bts.1	-	11	2563	c.2505G>A	c.(2503-2505)agG>agA	p.R835R	SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btu.3_Silent_p.R835R|SPOCD1_uc001btv.3_Silent_p.R328R|SPOCD1_uc021oks.1_Silent_p.R140R	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	835					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GAGACAACTCCCTGGTTTTGG	0.592000														112			74		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189675740	189675740	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:189675740C>T	uc011bsk.2	-	14	2476	c.2088G>A	c.(2086-2088)ggG>ggA	p.G696G	LEPREL1_uc003fsg.3_Silent_p.G515G	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	696					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTTCATGCTTCCCTTGCTGTT	0.313000											OREG0015985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			25		0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551788	248551788	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248551788G>A	uc001iei.1	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L292L(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			ACAGTCTGAGGAACAGGGATG	0.458000														59			13		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043742	20043742	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20043742C>T	uc002dgu.1	-	1	539	c.377G>A	c.(376-378)aGg>aAg	p.R126K	GPR139_uc010vaw.1_Missense_Mutation_p.R33K	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	126						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AGCGATATACCTGTCAATGGT	0.502000														73			24		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100266060	100266060	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:100266060C>T	uc021xqi.1	-	4		c.611G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTCGAAAATCCACAGCCAATG	0.507000														117			43		0	0	1	0	0
DEAF1	10522	broad.mit.edu	37	11	688045	688045	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:688045G>A	uc001lqq.1	-	3	1223	c.530C>T	c.(529-531)cCt>cTt	p.P177L	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Missense_Mutation_p.P177L	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	177					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		AGGGGTTGGAGGAGACTGAGG	0.572000														38			18		0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176524640	176524640	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176524640C>T	uc003mfl.3	+	17	2539	c.2372C>T	c.(2371-2373)tCc>tTc	p.S791F	FGFR4_uc003mfm.3_Missense_Mutation_p.S791F|FGFR4_uc011dfu.2_Missense_Mutation_p.S723F|FGFR4_uc003mfo.3_Missense_Mutation_p.S751F	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	791					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CCATTGGGATCCAGCTCCTTC	0.642000										TSP Lung(9;0.080)				62			29		0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	101013182	101013182	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:101013182G>A	uc002bwa.3	-	10	1289	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	CERS3_uc002bvz.3_Missense_Mutation_p.R229C|CERS3_uc002bwb.3_Missense_Mutation_p.R229C	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	229	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GTCCCACTGCGAATATAATTA	0.438000														156			15		0	0	1	0	0
BC035867	0	broad.mit.edu	37	22	20977088	20977088	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:20977088C>T	uc002zsv.3	-	4		c.1447G>A								Homo sapiens, clone IMAGE:5171202, mRNA.																		ACAAGGACACCATCCAGGCTG	0.582000														9			7		0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090203	238090203	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:238090203G>A	uc010pyc.2	+	11		c.1709G>A								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		TGCTGGGGACGATGCCCCCCA	0.602000														19			6		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370031	86370031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:86370031C>T	uc001vll.1	-	1	1072	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	SLITRK6_uc021rla.1_Missense_Mutation_p.E205K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	205						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CCAATGTGTTCGAGAAAACCA	0.403000														120			24		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54913107	54913107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54913107C>T	uc001sgc.4	+	15	1695	c.1616C>T	c.(1615-1617)tCt>tTt	p.S539F	NCKAP1L_uc010sox.2_Missense_Mutation_p.S81F|NCKAP1L_uc010soy.2_Missense_Mutation_p.S489F	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	539					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCTGATCTGTCTACTTTCTGG	0.383000														98			35		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188077	7188077	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7188077C>T	uc010sfy.2	-	8	1702	c.1643G>A	c.(1642-1644)gGa>gAa	p.G548E		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	626	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	CCTATTCTTTCCCCGGAGCCA	0.542000														26			12		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024398	76024398	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:76024398G>A	uc010kbe.3	-	5	1689	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	FILIP1_uc003phy.1_Nonsense_Mutation_p.R384*|FILIP1_uc003phz.3_Nonsense_Mutation_p.R285*|FILIP1_uc003pia.3_Nonsense_Mutation_p.R384*|FILIP1_uc003pib.1_Nonsense_Mutation_p.R136*	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	384										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACACGCTTTCGAAGATTTTCC	0.418000														156			13		0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187618	123187618	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:123187618C>T	uc001ucx.1	-	0	287	c.213G>A	c.(211-213)gtG>gtA	p.V71V	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	71					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	GAAAGTCAGCCACTGCCAGGT	0.527000														41			21		0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567374	223567374	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:223567374C>T	uc001hoa.2	+	0	660	c.557C>T	c.(556-558)tCc>tTc	p.S186F		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	186										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TGGTCCCCTTCCTCAGTTCCC	0.607000														53			29		0	0	1	0	0
LCN9	392399	broad.mit.edu	37	9	138557709	138557709	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:138557709C>T	uc004cgk.1	+	5	478	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	Homo sapiens lipocalin 9 (LCN9), mRNA.	160						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		CCTTCCAGATCCCTGCTACTC	0.692000														19			6		0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2592604	2592604	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:2592604G>A	uc001lwn.3	+	3	762	c.654G>A	c.(652-654)aaG>aaA	p.K218K	KCNQ1_uc009ydp.1_Intron|KCNQ1_uc001lwo.3_Silent_p.K91K	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	218					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TGGGCTCCAAGGGGCAGGTGT	0.682000														60			24		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856251	54856251	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:54856251C>T	uc002rxu.3	+	13	2229	c.1980C>T	c.(1978-1980)atC>atT	p.I660I	SPTBN1_uc002rxv.1_Silent_p.I660I|SPTBN1_uc002rxx.3_Silent_p.I647I	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	660					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGGAGAAGATCCTGTCCTCGG	0.627000														87			37		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135587422	135587422	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:135587422C>T	uc003lbn.2	-	5	1716	c.1494G>A	c.(1492-1494)gaG>gaA	p.E498E	TRPC7_uc010jef.2_Silent_p.E434E|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.E49E|TRPC7_uc010jeh.2_Silent_p.E437E|TRPC7_uc010jei.2_Silent_p.E382E	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	498					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACAGCTGTGCCTCCGTGGCCT	0.582000														23			9		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41979410	41979410	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:41979410C>T	uc001cgz.4	-	7	6695	c.5482G>A	c.(5482-5484)Gac>Aac	p.D1828N	HIVEP3_uc001cha.4_Missense_Mutation_p.D1828N|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1828	Acidic 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGAACAGGTCGTCACTGGTT	0.597000														33			9		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50090851	50090851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:50090851C>T	uc003jon.4	+	12	1210	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	PARP8_uc011cpz.2_Missense_Mutation_p.S235F|PARP8_uc003joo.3_Missense_Mutation_p.S343F|PARP8_uc003jop.3_Missense_Mutation_p.S343F	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	343						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTTGGCCGCTCCTTGTCCAGC	0.517000														85			29		0	0	1	0	0
INHBE	83729	broad.mit.edu	37	12	57849343	57849343	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57849343C>T	uc001snw.3	+	0	248	c.24C>T	c.(22-24)ctC>ctT	p.L8L		NM_031479	NP_113667	P58166	INHBE_HUMAN	Homo sapiens inhibin, beta E (INHBE), mRNA.	8					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						ATGTCCAGCTCTGGCTGGTGC	0.632000														37			7		0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465472	24465472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:24465472C>T	uc010tcw.2	-	2	978	c.958G>A	c.(958-960)Gat>Aat	p.D320N	MIPEP_uc001uox.4_5'Flank|C1QTNF9B-AS1_uc001uoy.3_Intron|C1QTNF9B-AS1_uc009zzx.3_Intron|C1QTNF9B_uc010tcv.1_3'UTR|C1QTNF9B_uc001uoz.1_3'UTR|C1QTNF9B_uc010tcx.2_Missense_Mutation_p.D320N	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	320	C1q.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GTTGTGTCATCGTCCTCATCA	0.517000														96			26		0	0	1	0	0
TAGLN2	8407	broad.mit.edu	37	1	159890198	159890198	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159890198G>A	uc001fun.1	-	1	175	c.102C>T	c.(100-102)atC>atT	p.I34I	TAGLN2_uc010piy.1_Silent_p.I34I	NM_003564	NP_003555	P37802	TAGL2_HUMAN	Homo sapiens transgelin 2 (TAGLN2), mRNA.	34	CH.				muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTGGGTGGTGATCCACTGGA	0.602000														78			26		0	0	1	0	0
CLEC2B	9976	broad.mit.edu	37	12	10010183	10010183	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10010183G>A	uc001qwn.3	-	2	784	c.127C>T	c.(127-129)Caa>Taa	p.Q43*		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	Homo sapiens C-type lectin domain family 2, member B (CLEC2B), mRNA.	43	C-type lectin.					integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						CATTTGTTTTGGAAACCAATC	0.318000														34			9		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21954063	21954063	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21954063C>T	uc001rfh.3	-	37	4585	c.4565G>A	c.(4564-4566)gGa>gAa	p.G1522E		NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1522	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.G1522E(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAAAATATTTCCTCGCTTCAT	0.408000														70			8		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536496	90536496	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90536496G>A	uc010mqi.3	+	3	1703	c.1674G>A	c.(1672-1674)agG>agA	p.R558R	FAM75C1_uc004apq.4_Silent_p.R541R	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GGAACCTGAGGAAGCCCTTGA	0.502000														117			33		0	0	1	0	0
FAM71D	161142	broad.mit.edu	37	14	67671359	67671359	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:67671359C>T	uc001xja.2	+	4	755	c.465C>T	c.(463-465)acC>acT	p.T155T	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	155										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)		AGCTCTGCACCTCTGCATATA	0.478000														35			15		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506690	11506690	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:11506690C>T	uc001qzw.1	-	2	384	c.347G>A	c.(346-348)gGa>gAa	p.G116E	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	116	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGAGG	0.612000														665			33		0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122795646	122795646	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:122795646G>A	uc001pym.3	+	3	1203	c.906G>A	c.(904-906)caG>caA	p.Q302Q		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	302										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CGTCTATTCAGAATGCCAAGG	0.408000														92			18		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526958	23526958	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:23526958G>A	uc003jgo.3	+	10	1943	c.1761G>A	c.(1759-1761)cgG>cgA	p.R587R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	587					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R587R(1)|p.G586G(1)|p.R587W(1)		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						AGTGTGGGCGGGGCTTTAGCT	0.607000										HNSCC(3;0.000094)				87			25		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976675	38976675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38976675G>A	uc002oit.3	+	33	5510	c.5380G>A	c.(5380-5382)Gcc>Acc	p.A1794T	RYR1_uc002oiu.3_Missense_Mutation_p.A1794T	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1794	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCAGCAGAGGCCCCGGCCCG	0.716000														40			17		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754413	76754413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:76754413G>A	uc002lmt.3	+	1	2422	c.2422G>A	c.(2422-2424)Gac>Aac	p.D808N	SALL3_uc010dra.3_Missense_Mutation_p.D415N	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	808				D -> N (in Ref. 2; CAB65124).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CATGGAGGACGACGCTGAGCT	0.652000														34			12		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876418	35876418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35876418C>T	uc003jjs.3	+	7	1299	c.1210C>T	c.(1210-1212)Ctc>Ttc	p.L404F	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	404					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GTACCAGGACCTCCTGCTTAG	0.552000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							43			15		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101776985	101776985	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:101776985C>T	uc001vox.1	-	17	2355	c.2166G>A	c.(2164-2166)aaG>aaA	p.K722K		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	722						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGCGGTCTCCTTTTCCAGAA	0.323000														109			57		0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72159743	72159743	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:72159743G>A	uc011kej.2	-	12	1596	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	TYW1B_uc011keh.1_Silent_p.I317I|TYW1B_uc011kei.2_Silent_p.I106I	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	480					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GTGGGCGGTCGATTTTCTTCA	0.388000														81			27		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435835	158435835	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158435835C>T	uc010pij.2	+	0	484	c.484C>T	c.(484-486)Cta>Tta	p.L162L		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CACCACCTCCCTAGTATTTCA	0.557000														199			75		0	0	1	0	0
PPP1R36	145376	broad.mit.edu	37	14	65055925	65055925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:65055925C>T	uc001xhl.1	+	11	1234	c.1138C>T	c.(1138-1140)Ctt>Ttt	p.L380F	PPP1R36_uc001xhm.1_Missense_Mutation_p.L110F	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	380																	GCTTCACCCCCTTGATCCAGA	0.428000														77			21		0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43866259	43866259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43866259G>A	uc002owi.3	+	9	1140	c.1098G>A	c.(1096-1098)atG>atA	p.M366I	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	367	UPAR/Ly6 2.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CCACCAAAATGAGCATTCAGG	0.557000														88			7		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427635	119427635	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:119427635G>A	uc001ehl.1	-	7	1526	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F	TBX15_uc009whj.1_Missense_Mutation_p.S228F	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	510						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GTTGTGAAGGGAGAAGGCATT	0.527000														35			20		0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46414494	46414494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46414494C>T	uc003cpo.4	+	2	223	c.101C>T	c.(100-102)cCt>cTt	p.P34L	CCR5_uc010hjd.3_Missense_Mutation_p.P34L|CCR5_uc021wxb.1_Missense_Mutation_p.P34L	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	34			P -> L (in TZCCR5-179).		cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	CGCCTCCTGCCTCCGCTCTAC	0.453000														144			48		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21419872	21419872	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:21419872G>A	uc002kuq.3	+	26	3401	c.3315G>A	c.(3313-3315)ggG>ggA	p.G1105G	LAMA3_uc002kur.3_Silent_p.G1105G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1105	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTTCCTGGGGTCACCTTGA	0.488000														68			29		0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89790008	89790008	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89790008C>T	uc002fos.4	+	3	994	c.897C>T	c.(895-897)acC>acT	p.T299T	C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.3_Missense_Mutation_p.P96L|ZNF276_uc002foq.4_Silent_p.T224T|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_Missense_Mutation_p.P96L|ZNF276_uc010cis.3_Silent_p.T58T|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_Silent_p.T137T|ZNF276_uc010cit.2_Silent_p.T58T	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGGCTGAGACCAAGACCCTGC	0.697000														38			17		0	0	1	0	0
CRYAA	1409	broad.mit.edu	37	21	44590729	44590729	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:44590729G>A	uc002zdd.1	+	1	361	c.292G>A	c.(292-294)Gga>Aga	p.G98R		NM_000394	NP_000385	P02489	CRYAA_HUMAN	Homo sapiens crystallin, alpha A (CRYAA), mRNA.	98					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GGAGATCCACGGAAAGCACAA	0.642000														53			13		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154862651	154862651	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:154862651C>T	uc003wlu.1	+	0	106	c.42C>T	c.(40-42)acC>acT	p.T14T	LOC100128264_uc003wlt.2_Intron|LOC100128264_uc011kvt.1_Intron	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	14						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CCCTCTCCACCCCCTCCCCTT	0.587000														131			49		0	0	1	0	0
C15orf53	400359	broad.mit.edu	37	15	38990420	38990420	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:38990420G>A	uc001zkf.1	+	1	224	c.214G>A	c.(214-216)Gat>Aat	p.D72N		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	Homo sapiens chromosome 15 open reading frame 53 (C15orf53), mRNA.	72										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		tctgggAGAAGATGCTTCCCT	0.498000														42			21		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193831	152193831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152193831C>T	uc001ezt.1	-	2	350	c.274G>A	c.(274-276)Gat>Aat	p.D92N		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	92					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCAGTAATCTTTGCCAATG	0.413000														64			23		0	0	1	0	0
FBXL21	26223	broad.mit.edu	37	5	135273183	135273183	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:135273183C>T	uc021ydv.1	+	5		c.918C>T			FBXL21_uc003lbc.3_Non-coding_Transcript|FBXL21_uc021ydw.1_Non-coding_Transcript|FBXL21_uc021ydx.1_Non-coding_Transcript	NM_012159		Q9UKT6	FXL21_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA.						rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			large_intestine(5)|lung(4)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGTTCCATCCAGACCTTGGG	0.413000														73			21		0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629337	9629337	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:9629337G>A	uc003jem.1	-	0	1127	c.808C>T	c.(808-810)Cct>Tct	p.P270S		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	270					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TGTCCAGAAGGGTATATACCA	0.373000														96			34		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399221	179399221	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179399221C>T	uc021vsy.1	-	306	94642	c.94417G>A	c.(94417-94419)Gag>Aag	p.E31473K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25168K|TTN_uc021vta.1_Missense_Mutation_p.E25101K|TTN_uc021vtb.1_Missense_Mutation_p.E24976K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32400	Ig-like 140.						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)			ATGCTAATCTCTTTGAATGCT	0.428000														79			36		0	0	1	0	0
ZNF414	84330	broad.mit.edu	37	19	8576620	8576620	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8576620G>A	uc002mke.4	-	4	873	c.755C>T	c.(754-756)cCg>cTg	p.P252L	ZNF414_uc010dwf.3_Missense_Mutation_p.P241L|ZNF414_uc002mkf.3_Missense_Mutation_p.P252L	NM_001146175	NP_001139647	Q96IQ9	ZN414_HUMAN	Homo sapiens zinc finger protein 414 (ZNF414), transcript variant 1, mRNA.	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						GGGCAGGAACGGTCCGGTGGG	0.766000														4			3		0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109511303	109511303	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:109511303C>T	uc010sxi.2	+	6	790	c.686C>T	c.(685-687)aCt>aTt	p.T229I	USP30_uc001tnu.4_Missense_Mutation_p.T198I	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	229					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						GGAAGACTCACTAGTAATATG	0.403000														54			13		0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	959657	959657	+	Silent	SNP	C	T	T	rs149827249		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:959657C>T	uc003sjo.4	-	3	529	c.336G>A	c.(334-336)aaG>aaA	p.K112K	ADAP1_uc011jvs.2_Silent_p.K17K|ADAP1_uc003sjn.4_Silent_p.K40K|ADAP1_uc010ksc.3_Silent_p.K40K	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	112	Arf-GAP.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GTCGCTCGTACTTGGCCCGGA	0.682000														27			9		0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4222756	4222756	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4222756C>T	uc010dtt.1	+	19	3537	c.3261C>T	c.(3259-3261)ctC>ctT	p.L1087L		NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	1087										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TGGAGGCTCTCCGTGACCAGG	0.572000														18			8		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45946460	45946460	+	Silent	SNP	C	T	T	rs138534271	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:45946460C>T	uc010gzz.3	+	14	1923	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	FBLN1_uc003bgg.1_Silent_p.F554F|FBLN1_uc003bgh.3_Silent_p.F554F|FBLN1_uc003bgi.1_Silent_p.F554F|FBLN1_uc003bgj.1_Silent_p.F554F	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	554					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCCTGGCCTTCGAGTGCCCTG	0.592000														80			12		0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137802597	137802597	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:137802597C>T	uc003ldb.1	+	1	729	c.459C>T	c.(457-459)ccC>ccT	p.P153P		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	153					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGCCCGAGCCCCTCTTCAGCT	0.637000														131			45		0	0	1	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273370	26273370	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:26273370C>T	uc003nhk.3	+	0	167	c.167C>T	c.(166-168)tCg>tTg	p.S56L	HIST1H3G_uc003nhi.3_5'Flank	NM_003525	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bi (HIST1H2BI), mRNA.	56					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						ACCGGCATCTCGTCCAAGGCT	0.567000														261			104		0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115607039	115607039	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115607039G>A	uc001law.2	-	2	3099	c.2181C>T	c.(2179-2181)gcC>gcT	p.A727A		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.	727					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGAGAAAATAGGCTGTGCAAC	0.383000								Other identified genes with known or suspected DNA repair function						42			17		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345431	33345431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33345431G>A	uc002xav.3	-	7	3691	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S	NCOA6_uc002xaw.3_Missense_Mutation_p.P374S|NCOA6_uc021wcd.1_Missense_Mutation_p.P374S|NCOA6_uc021wce.1_Missense_Mutation_p.P374S|NCOA6_uc021wcf.1_Missense_Mutation_p.P374S|NCOA6_uc010gew.1_Missense_Mutation_p.P331S	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	374	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|Poly-Pro.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGATATGGAGGGGGAGGGTGG	0.562000														90			54		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56342232	56342232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56342232C>T	uc002ivt.3	+	9	1732	c.1416C>T	c.(1414-1416)ccC>ccT	p.P472P	LPO_uc010wns.2_Silent_p.P413P|LPO_uc010dcp.3_Silent_p.P389P|LPO_uc010dcq.3_Silent_p.P143P|LPO_uc010dcr.3_Silent_p.P35P	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	472					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGGAGGTCCCCTCTAGTATGT	0.517000														59			28		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216595578	216595578	+	Missense_Mutation	SNP	C	T	T	rs141672841	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:216595578C>T	uc001hku.1	-	1	488	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	USH2A_uc001hkv.3_Missense_Mutation_p.R34Q	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	34					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)		GAAAAGACCTCGTGACTCAGT	0.453000										HNSCC(13;0.011)				73			30		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159514632	159514632	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:159514632G>A	uc003ipz.3	+	2	530	c.267G>A	c.(265-267)gaG>gaA	p.E89E	RXFP1_uc010iqj.2_5'UTR|RXFP1_uc010iqk.3_5'UTR|RXFP1_uc011cja.2_Silent_p.E8E|RXFP1_uc010iqo.3_Silent_p.E89E|RXFP1_uc011cjb.2_Silent_p.E8E|RXFP1_uc011cjc.2_Silent_p.E8E|RXFP1_uc011cjd.2_Silent_p.E8E|RXFP1_uc010iql.3_5'UTR|RXFP1_uc011cje.2_Silent_p.E89E|RXFP1_uc010iqm.3_Intron|RXFP1_uc011cjf.2_Intron|RXFP1_uc010iqn.3_Silent_p.E8E	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	89						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATCCTTTTGAGGCAGAAACAC	0.313000														47			5		0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77896092	77896092	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:77896092C>T	uc002lnw.3	+	3	3251	c.2796C>T	c.(2794-2796)gcC>gcT	p.A932A		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	932					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTGCCATCGCCGTCCATTTGG	0.562000														145			8		0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93588319	93588319	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:93588319G>A	uc010urc.2	-	3	1517	c.1286C>T	c.(1285-1287)cCa>cTa	p.P429L	RGMA_uc002bsq.2_Missense_Mutation_p.P405L|RGMA_uc021svs.1_Missense_Mutation_p.P405L|RGMA_uc021svt.1_Missense_Mutation_p.P405L|RGMA_uc010boi.2_Missense_Mutation_p.P312L|RGMA_uc002bsr.2_Missense_Mutation_p.P312L|RGMA_uc021svu.1_Missense_Mutation_p.P405L|RGMA_uc002bss.2_Missense_Mutation_p.P421L	NM_001166283	NP_001159761	Q96B86	RGMA_HUMAN	Homo sapiens RGM domain family, member A (RGMA), transcript variant 1, mRNA.	421					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			CGCCCTGCCTGGCAGGTCCCG	0.647000														5			6		0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80555016	80555016	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:80555016G>A	uc003khc.4	+	8	1199	c.957G>A	c.(955-957)tcG>tcA	p.S319S	RNU5E-1_uc011cto.1_Intron|CKMT2_uc010jaq.3_Silent_p.S319S|CKMT2_uc003khd.4_Silent_p.S319S|LOC100131067_uc003khe.2_Intron|LOC100131067_uc003khf.2_Intron|LOC100131067_uc003khg.2_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric) (CKMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	319	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CCTGTCCTTCGAACCTTGGAA	0.512000														142			12		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121430236	121430236	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121430236C>T	uc001pxx.3	+	20	3048	c.2919C>T	c.(2917-2919)atC>atT	p.I973I		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	973					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGAATGAAATCTACTGGGATG	0.478000														81			25		0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71940997	71940997	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:71940997C>T	uc001osf.3	+	7	1020	c.873C>T	c.(871-873)tcC>tcT	p.S291S	INPPL1_uc001osg.3_Silent_p.S49S	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	291					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACATGAGCTCCACAGCACCCC	0.642000														55			9		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193081	132193081	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:132193081C>T	uc003vra.4	-	1	601	c.372G>A	c.(370-372)gaG>gaA	p.E124E	PLXNA4_uc003vrc.2_Silent_p.E124E|PLXNA4_uc003vrb.3_Silent_p.E124E	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	124	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCAGCCTGTTCTCCTTGTAGT	0.547000														54			16		0	0	1	0	0
FGF21	26291	broad.mit.edu	37	19	49261325	49261325	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49261325G>A	uc002pkn.1	+	3	1050	c.478G>A	c.(478-480)Gga>Aga	p.G160R	FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Missense_Mutation_p.G160R	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.	160					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)		TGCACCCCGAGGACCAGCTCG	0.687000														48			10		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515777	47515777	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47515777C>T	uc001cqt.3	+	11	1711	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	CYP4X1_uc001cqr.3_Silent_p.F486F|CYP4X1_uc001cqs.3_Silent_p.F422F	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	487						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CTCTTACTTTCCCCAACCATT	0.448000														127			43		0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43625229	43625229	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:43625229G>A	uc011lrb.2	-	3	3487	c.3458C>T	c.(3457-3459)cCt>cTt	p.P1153L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	1153						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						TACTGAAGGAGGCTGTTTCTT	0.453000														114			13		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121282323	121282323	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:121282323G>A	uc003yox.3	+	25	3388	c.3123G>A	c.(3121-3123)tgG>tgA	p.W1041*	COL14A1_uc003yoz.3_Nonsense_Mutation_p.W6*	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1041	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.S1040F(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATGGATCCTGGAGCATTGGAG	0.428000														89			8		0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134256003	134256003	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:134256003C>T	uc003eqo.1	+	6	897	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C	CEP63_uc003eql.1_Missense_Mutation_p.R150C|CEP63_uc003eqm.3_Missense_Mutation_p.R150C|CEP63_uc003eqn.1_Missense_Mutation_p.R150C	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	150					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCAGGAATTCCGTCAGAAATC	0.458000														84			19		0	0	1	0	0
MEX3B	84206	broad.mit.edu	37	15	82335978	82335978	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:82335978G>A	uc002bgq.1	-	1	1548	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	Homo sapiens mex-3 homolog B (C. elegans) (MEX3B), mRNA.	411					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	RNA binding|calcium ion binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CACCCCCGGGGAAGACCACGg	0.672000														23			10		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173332	51173332	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:51173332C>T	uc021tif.1	-	1	2832	c.2510G>A	c.(2509-2511)aGc>aAc	p.S837N	SALL1_uc021tid.1_Missense_Mutation_p.S837N|SALL1_uc021tie.1_Missense_Mutation_p.S934N|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	934					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTCCTGCGTGCTGTTGGACGG	0.557000														65			9		0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49359997	49359997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49359997G>A	uc001rss.3	-	4	1495	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C	WNT10B_uc001rst.3_3'UTR	NM_003394	NP_003385	O00744	WN10B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA.	351					Wnt receptor signaling pathway, calcium modulating pathway|axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						TTGTGCCCACGGCCACAGCAC	0.627000														59			5		0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428804	120428804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:120428804C>T	uc003vjk.3	-	7	1134	c.760G>A	c.(760-762)Gag>Aag	p.E254K	TSPAN12_uc010lkj.3_Missense_Mutation_p.E127K	NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	254					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					GTCCCCGGCTCCCTTCTATCA	0.483000														81			29		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067176	11067176	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:11067176C>T	uc010hdq.3	+	7	1167	c.756C>T	c.(754-756)atC>atT	p.I252I		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	252					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TCATGCTGATCATCCTGTTCT	0.572000														35			22		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095870	167095870	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167095870G>A	uc001geb.1	+	4	1518	c.1502G>A	c.(1501-1503)aGa>aAa	p.R501K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	501					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAGAGCAAGAGAGAGGAGGCG	0.607000														40			19		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202710505	202710505	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:202710505G>T	uc009xag.3	-	19	3159	c.3043C>A	c.(3043-3045)Ctc>Atc	p.L1015I	KDM5B_uc001gyf.3_Missense_Mutation_p.L979I|KDM5B_uc001gyg.1_Missense_Mutation_p.L821I	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	979					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTGGCCTTGAGGAGACTCTTG	0.522000														47			17		9.16793e-09	9.19579e-09	1	1	0
OR51A2	401667	broad.mit.edu	37	11	4976592	4976592	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4976592G>A	uc010qyt.2	-	0	352	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)		GACATGATCAGGAGGACTGAG	0.448000														25			23		0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43621793	43621793	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43621793G>A	uc002zan.3	+	1	268	c.8G>A	c.(7-9)gGa>gAa	p.G3E	ABCG1_uc002zam.3_5'UTR	NM_207627	NP_997511	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 5, mRNA.	0					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	ttgatgctgggaacgcagggg	0.542000														37			4		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369416	56369416	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56369416C>T	uc002qmd.4	+	2	1079	c.657C>T	c.(655-657)atC>atT	p.I219I	NLRP4_uc002qmf.3_Silent_p.I144I|NLRP4_uc010etf.3_Silent_p.I50I	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	219	NACHT.						ATP binding	p.I219I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TAACAGAGATCGTGTCTCAAC	0.537000														84			38		0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100155362	100155362	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:100155362C>T	uc001dsg.3	+	6	1989	c.1546C>T	c.(1546-1548)Cct>Tct	p.P516S		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	516					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CTTAGGCAGCCCTGTCCACCA	0.428000														68			25		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42344708	42344708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42344708G>A	uc002xlb.1	+	13	2299	c.2084G>A	c.(2083-2085)cGg>cAg	p.R695Q	MYBL2_uc010zwj.1_Missense_Mutation_p.R671Q	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	695						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CACACATCTCGGACCCTCATC	0.607000														210			54		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394822	86394822	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:86394822G>A	uc003uid.3	+	1	1460	c.361G>A	c.(361-363)Gat>Aat	p.D121N	GRM3_uc010lef.3_Missense_Mutation_p.D119N|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	121					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)	GACAAAAGTGGATGAAGCTGA	0.438000														146			46		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784541	9784541	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:9784541G>A	uc003gmb.4	+	0	1284	c.888G>A	c.(886-888)aaG>aaA	p.K296K		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	296					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AGGTTCTCAAGACCCTGTCGG	0.627000														99			11		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51900434	51900434	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:51900434G>A	uc003pah.1	-	27	3459	c.3183C>T	c.(3181-3183)gtC>gtT	p.V1061V	PKHD1_uc003pai.3_Silent_p.V1061V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1061	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGCTTGTAGCGACATTGATGG	0.453000														117			30		0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149905338	149905338	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:149905338G>A	uc001etl.4	-	9	1197	c.946C>T	c.(946-948)Caa>Taa	p.Q316*	MTMR11_uc001etm.2_Nonsense_Mutation_p.Q244*|MTMR11_uc010pbm.1_Nonsense_Mutation_p.Q288*|MTMR11_uc010pbn.1_Nonsense_Mutation_p.Q158*	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	316	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TGGGCAAGTTGGACATCTGCA	0.582000														93			40		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201460056	201460056	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:201460056G>A	uc002uvx.3	+	2	266	c.165G>A	c.(163-165)atG>atA	p.M55I		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	55	2Fe-2S ferredoxin-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTACAGTGATGATATCACGAT	0.398000														31			14		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101739389	101739389	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:101739389C>T	uc001tia.1	+	36	4819	c.4663C>T	c.(4663-4665)Caa>Taa	p.Q1555*		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1555					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CTTTCCAAACCAACTGGAATT	0.338000														64			22		0	0	1	0	0
NXPH4	11247	broad.mit.edu	37	12	57619443	57619443	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57619443C>T	uc010srf.2	+	1	1015	c.840C>T	c.(838-840)ttC>ttT	p.F280F	NXPH4_uc009zpj.3_Silent_p.F86F	NM_007224	NP_009155	O95158	NXPH4_HUMAN	Homo sapiens neurexophilin 4 (NXPH4), mRNA.	280	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TCTGTATCTTCGTCTCTTTCC	0.577000														69			17		0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55653197	55653197	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55653197A>T	uc010rip.2	+	1	385	c.293A>T	c.(292-294)gAg>gTg	p.E98V	TRIM51_uc010riq.2_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	98						intracellular	zinc ion binding										ATGCACAGAGAGACAAAGAAG	0.483000														33			10		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72198665	72198665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:72198665G>A	uc002fcc.4	-	2	335	c.163C>T	c.(163-165)Cac>Tac	p.H55Y	PMFBP1_uc002fcd.3_Missense_Mutation_p.H55Y|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_5'UTR	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	55										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TCCCTTACGTGGCTGCTGTTC	0.522000														89			9		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139741513	139741513	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:139741513G>A	uc003vvl.1	-	5	1987	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	371	WWE 2.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TGGTGAGGATGAAGTGTGGAG	0.498000														199			42		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4853129	4853129	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:4853129G>A	uc003bqc.3	+	54	7758	c.7408G>A	c.(7408-7410)Gaa>Aaa	p.E2470K	ITPR1_uc021wsi.1_Missense_Mutation_p.E2437K|ITPR1_uc021wsj.1_Missense_Mutation_p.E2422K|ITPR1_uc011asu.2_Missense_Mutation_p.E448K|ITPR1_uc010hcc.2_Missense_Mutation_p.E205K|ITPR1_uc011asv.2_Missense_Mutation_p.E161K	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2485					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCTGCCCAATGAAACAGCTGT	0.383000														81			27		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975411	20975411	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20975411G>A	uc010vbe.2	-	52	9795	c.9795C>T	c.(9793-9795)tcC>tcT	p.S3265S	DNAH3_uc010vbd.2_Silent_p.S700S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3265	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S3265F(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCACTTTGGAGGAGGACAGAA	0.468000														135			43		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75065478	75065478	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75065478C>T	uc001dgg.3	-	10	1846	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E337K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	543	Glu-rich.									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						GTTTCACTCTCTTTTTCAGGG	0.408000														225			53		0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	99039822	99039822	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:99039822C>T	uc003yic.3	+	13	2352	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	MATN2_uc010mbh.1_Silent_p.F666F|MATN2_uc003yid.3_Silent_p.F707F|MATN2_uc003yie.1_Silent_p.F707F|MATN2_uc010mbi.1_Silent_p.F540F|RPL30_uc010mbk.2_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	707	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ACACAGAGTTCACTCTGAGAA	0.488000														51			10		0	0	1	0	0
STL	7955	broad.mit.edu	37	6	125233416	125233416	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:125233416C>T	uc003pzq.3	-	6		c.1318G>A								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		TCCTGCAATTCCAGTCAATTT	0.393000			T	ETV6	B-ALL									50			7		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23224167	23224167	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23224167G>T	uc002dlm.1	+	9	1522	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	461				EWT -> DGH (in Ref. 5; AAC50758).	excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GCTTTAAAGAGTGGACACTAA	0.592000														72			10		1.58986e-06	1.59306e-06	1	1	0
PLEC	5339	broad.mit.edu	37	8	145001728	145001728	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145001728G>A	uc003zaf.1	-	26	4187	c.4017C>T	c.(4015-4017)ctC>ctT	p.L1339L	PLEC_uc003zab.1_Silent_p.L1202L|PLEC_uc003zac.1_Silent_p.L1206L|PLEC_uc003zad.2_Silent_p.L1202L|PLEC_uc003zae.1_Silent_p.L1170L|PLEC_uc003zag.1_Silent_p.L1180L|PLEC_uc003zah.2_Silent_p.L1188L|PLEC_uc003zaj.2_Silent_p.L1229L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1339	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCAGTTGCTCGAGCTCGCGCT	0.716000														10			3		0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6309787	6309787	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6309787G>A	uc002mel.2	-	3	487	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	137						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GTGGGCCGCAGGAAGGACAGA	0.607000														63			13		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27699589	27699589	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27699589G>A	uc002rku.3	-	13	1381	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	IFT172_uc002rkv.3_Missense_Mutation_p.R418C|IFT172_uc010yls.2_Missense_Mutation_p.R423C|IFT172_uc010ezc.3_Missense_Mutation_p.R444C	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	444					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCATTAATACGAACACTGAAA	0.373000														63			29		0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156518469	156518469	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:156518469G>A	uc010lqn.3	-	13	1394	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	LMBR1_uc003wmv.4_Silent_p.I200I|LMBR1_uc003wmw.4_Silent_p.I352I|LMBR1_uc003wmx.4_Silent_p.I200I|LMBR1_uc011kvx.2_Silent_p.I331I	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	352						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		AAATCAAAATGATTTCAAGCG	0.403000														53			24		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34087766	34087766	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34087766C>T	uc001bxm.1	-	37	6004	c.5827_splice	c.e37+1	p.T1943_splice	CSMD2_uc001bxn.1_Splice_Site_p.T1903_splice|CSMD2_uc001bxo.1_Splice_Site_p.T816_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1903	Sushi 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGATTCTCACTTTTGTACTC	0.507000														153			76		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307697	46307697	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46307697G>A	uc002pdm.3	-	2	1637	c.1466C>T	c.(1465-1467)tCg>tTg	p.S489L	RSPH6A_uc002pdl.3_Missense_Mutation_p.S225L	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	489						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CGTGGCGGCCGAGATGCGGGC	0.642000														52			23		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152382554	152382554	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152382554C>T	uc001ezx.2	-	2	1078	c.1004G>A	c.(1003-1005)aGg>aAg	p.R335K		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	335	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	p.G334D(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTCTGGCTCCTGCCTTGACC	0.592000														190			74		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72667227	72667227	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:72667227G>A	uc001sxa.3	+	0	699	c.669G>A	c.(667-669)agG>agA	p.R223R	LOC283392_uc010stv.2_5'UTR|LOC283392_uc021rat.1_5'Flank	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	223					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						TGCTGAATAGGACACTGGACG	0.557000														84			17		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238045810	238045810	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:238045810A>T	uc001hym.3	-	11	1822	c.1535T>A	c.(1534-1536)cTt>cAt	p.L512H	LOC100130331_uc010pyc.2_Non-coding_Transcript	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	512					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)			GGTCCCAGAAAGGCCTGCCAC	0.453000														116			48		0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27289779	27289779	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:27289779C>T	uc003xfn.2	+	14	1696	c.888C>T	c.(886-888)ccC>ccT	p.P296P	PTK2B_uc022ate.1_Silent_p.P296P|PTK2B_uc003xfp.2_Silent_p.P296P|PTK2B_uc003xfq.2_Silent_p.P296P|PTK2B_uc010luq.1_Silent_p.P67P|PTK2B_uc003xfr.1_Silent_p.P42P	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	296	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCCCACAGCCCACCTGCCTGG	0.622000														23			8		0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5344754	5344754	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5344754G>A	uc001mao.1	-	0	829	c.774C>T	c.(772-774)ttC>ttT	p.F258F	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.	258					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)		ATCTGTAAATGAATGTCAAAC	0.413000														90			19		0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138252230	138252230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:138252230C>T	uc003vuc.3	+	9	1750	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L	TRIM24_uc003vub.3_Missense_Mutation_p.P478L|TRIM24_uc022amn.1_Missense_Mutation_p.P436L	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	512					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TTCTAGCAACCGCCTCCACGT	0.348000														122			46		0	0	1	0	0
NREP	9315	broad.mit.edu	37	5	111066648	111066648	+	Silent	SNP	G	A	A	rs11556173		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:111066648G>A	uc011cvr.2	-	3	501	c.309C>T	c.(307-309)tcC>tcT	p.S103S	NREP_uc011cvs.2_Silent_p.S93S|LOC100505678_uc021ych.1_Intron|NREP_uc003kpk.3_Intron|NREP_uc003kpl.3_Silent_p.S59S|NREP_uc003kpm.3_Silent_p.S59S|NREP_uc011cvk.2_Silent_p.S59S|NREP_uc011cvl.2_Silent_p.S59S|NREP_uc011cvm.2_Silent_p.S59S|NREP_uc011cvn.2_Silent_p.S59S|NREP_uc011cvo.2_Silent_p.S59S|NREP_uc011cvp.2_Silent_p.S59S|NREP_uc011cvq.2_Silent_p.S59S	NM_001142475	NP_001135947	Q16612	NP311_HUMAN	Homo sapiens neuronal regeneration related protein homolog (rat) (NREP), transcript variant 3, mRNA.	59						cytoplasm											TGATTCTTGGGGAGCGGAGTT	0.463000														107			20		0	0	1	0	0
DACT3	147906	broad.mit.edu	37	19	47151774	47151774	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47151774G>A	uc010ekq.3	-	3	1929	c.1855C>T	c.(1855-1857)Cgt>Tgt	p.R619C		NM_145056	NP_659493	Q96B18	DACT3_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis) (DACT3), mRNA.	619										lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		GAACCCGAACGGAAACGCAGT	0.577000														384			138		0	0	1	0	0
CLDN6	9074	broad.mit.edu	37	16	3065685	3065685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3065685G>A	uc021tbb.1	-	0	338	c.338C>T	c.(337-339)tCc>tTc	p.S113F	CLDN6_uc002csu.4_Missense_Mutation_p.S113F	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	113					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GCGGGCCTTGGAATCCTTCTC	0.612000														44			15		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074867	9074867	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9074867G>A	uc002mkp.3	-	2	12783	c.12579C>T	c.(12577-12579)ttC>ttT	p.F4193F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4195	Ser-rich.|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						TCTCAGACAAGAAAACTGAGG	0.507000														59			20		0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60645858	60645858	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:60645858C>T	uc021ule.1	+	16	4593	c.4348C>T	c.(4348-4350)Ccc>Tcc	p.P1450S		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	1450					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CATCTTTCCTCCCTCAGTGAA	0.627000														35			9		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166183422	166183422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166183422G>A	uc002udc.3	+	12	2367	c.2077G>A	c.(2077-2079)Gat>Aat	p.D693N	SCN2A_uc002udd.3_Missense_Mutation_p.D693N|SCN2A_uc002ude.3_Missense_Mutation_p.D693N	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	693					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D693E(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGTTTCCATGGATTTATTGGA	0.373000														136			13		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22337365	22337365	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22337365C>T	uc021rpg.1	+	1	219	c.156C>T	c.(154-156)ttC>ttT	p.F52F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 85.																		CAAACTACTTCCCTTGGTATA	0.438000														140			56		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677394	3677394	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3677394C>T	uc002wja.3	-	9	2522	c.2522G>A	c.(2521-2523)gGt>gAt	p.G841D	SIGLEC1_uc002wiz.4_Missense_Mutation_p.G841D	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	841	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						GACCTGGGGACCCAGGCTGGT	0.637000														64			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049049	9049049	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9049049G>A	uc002mkp.3	-	4	32786	c.32582C>T	c.(32581-32583)tCc>tTc	p.S10861F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10863	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						AGCTGAACTGGATTCTGCCCC	0.483000														97			37		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578277	7578277	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7578277G>A	uc002gim.2	-	5	766	c.572C>T	c.(571-573)cCt>cTt	p.P191L	TP53_uc002gig.1_Missense_Mutation_p.P191L|TP53_uc002gih.3_Missense_Mutation_p.P191L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P59L|TP53_uc010cnf.1_Missense_Mutation_p.P59L|TP53_uc002gii.1_Missense_Mutation_p.P59L|TP53_uc010cni.1_Missense_Mutation_p.P191L|TP53_uc010cnh.1_Missense_Mutation_p.P191L|TP53_uc002gij.2_Missense_Mutation_p.P191L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.P98L|TP53_uc002gio.2_Missense_Mutation_p.P59L|TP53_uc010vug.2_Missense_Mutation_p.P152L	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	191	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P190L(22)|p.P191del(14)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.P190fs*57(6)|p.?(6)|p.P190del(6)|p.P190S(6)|p.P191fs*56(4)|p.P191_E198>Q(4)|p.P191fs*53(4)|p.P191L(4)|p.P191R(4)|p.P191delP(4)|p.P190T(4)|p.P191fs*6(2)|p.A189_Q192>E(2)|p.P191fs*15(2)|p.P191H(2)|p.P191S(2)|p.G187fs*16(2)|p.P59delP(2)|p.P191_Q192delPQ(2)|p.P98delP(2)|p.D186_P191delDGLAPP(2)|p.P190A(2)|p.P190R(2)|p.L188_P191del(2)|p.P190F(2)|p.K164_P219del(1)|p.P59_E66>Q(1)|p.P191fs*57(1)|p.P191fs*18(1)|p.P191P(1)|p.P190fs*19(1)|p.P191T(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.P190H(1)|p.P190P(1)|p.A189_P190>X(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)		AAGATGCTGAGGAGGGGCCAG	0.557000		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)				22			15		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25861613	25861613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:25861613G>A	uc001isj.3	+	6	1610	c.1550G>A	c.(1549-1551)cGa>cAa	p.R517Q		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	517						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACGGCTCAACGAATTCCATAT	0.408000														143			24		0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50875489	50875489	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50875489C>T	uc003blb.2	+	15	2097	c.1675C>T	c.(1675-1677)Ctt>Ttt	p.L559F	PPP6R2_uc003blc.3_Missense_Mutation_p.L559F|PPP6R2_uc003bky.2_Intron|PPP6R2_uc003bla.2_Intron|PPP6R2_uc003bkz.2_Intron|PPP6R2_uc003bld.2_Intron	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	559						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CGAGCTGTCCCTTCAGCAGGT	0.627000														4			4		0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22846811	22846811	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22846811C>T	uc002nqw.3	+	3	584	c.340C>T	c.(340-342)Caa>Taa	p.Q114*		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CAAAATATTTCAATGTGACAA	0.313000														20			8		0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100134904	100134904	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:100134904C>T	uc003huo.2	-	3	215	c.121_splice	c.e3-1	p.V41_splice	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Intron|ADH6_uc003hup.4_Splice_Site_p.V41_splice|ADH6_uc010ile.3_Splice_Site_p.V41_splice	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	41					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	GTGGCCACAACCTGTATGGAA	0.468000														48			25		0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128200709	128200709	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:128200709C>T	uc003ekm.3	-	5	1531	c.1096G>A	c.(1096-1098)Ggg>Agg	p.G366R	GATA2_uc003ekn.3_Missense_Mutation_p.G352R|GATA2_uc003eko.2_Missense_Mutation_p.G366R	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	366					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		ACAGGGTCCCCGTTGGCGTTT	0.652000			Mis		AML(CML blast transformation)									49			19		0	0	1	0	0
HMGN4	10473	broad.mit.edu	37	6	26545639	26545639	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:26545639C>T	uc003nig.3	+	1	443	c.205C>T	c.(205-207)Cct>Tct	p.P69S	HMGN4_uc021ynn.1_Missense_Mutation_p.P69S	NM_006353	NP_006344	O00479	HMGN4_HUMAN	Homo sapiens high mobility group nucleosomal binding domain 4 (HMGN4), mRNA.	69						chromatin|nucleus	DNA binding			lung(2)|skin(1)	3						TGGGAACAACCCTGCAAAAAA	0.493000														93			33		0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151545475	151545475	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151545475C>T	uc003eze.3	+	4	805	c.715C>T	c.(715-717)Cta>Tta	p.L239L		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	239					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCAAATTTTCTATTTCTATC	0.368000														71			34		0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155757560	155757560	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:155757560C>T	uc003qqm.3	-	6	893	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	264	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ACCGAGGGTTCCTTGCCAGAA	0.438000														62			32		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363473	22363473	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22363473G>A	uc002nqs.1	-	2	1364	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	349					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)				AAGGATTGAGGATCGATTAAA	0.403000														120			31		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	89156784	89156784	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:89156784G>A	uc002sti.1	-	0		c.3491C>T			abParts_uc002stj.1_Non-coding_Transcript					Homo sapiens cDNA FLJ46682 fis, clone TRACH3011082, moderately similar to Ig kappa chain V-III region HAH precursor.																		ACCGCAATAGGGGTAGGTCCC	0.522000														14			4		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301489	11301489	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:11301489C>T	uc010hdr.3	+	1	1108	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S	HRH1_uc010hds.3_Missense_Mutation_p.P256S|HRH1_uc010hdt.3_Missense_Mutation_p.P256S|HRH1_uc003bwb.4_Missense_Mutation_p.P256S|HRH1_uc021wtb.1_Missense_Mutation_p.P256S	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	256					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GAAGGAGTCTCCCTGGGAGGT	0.527000														34			20		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594625	140594625	+	Silent	SNP	C	T	T	rs150808997		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140594625C>T	uc003lja.1	+	0	1117	c.930C>T	c.(928-930)ttC>ttT	p.F310F		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	310	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.F310F(4)|p.D309N(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTCGATTTCGAAAAACTTC	0.378000														147			74		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70933760	70933760	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70933760C>T	uc001swb.4	-	21	5013	c.4983G>A	c.(4981-4983)agG>agA	p.R1661R	PTPRB_uc010sto.2_Silent_p.R1571R|PTPRB_uc010stp.2_Silent_p.R1571R|PTPRB_uc001swc.4_Silent_p.R1879R|PTPRB_uc001swa.4_Silent_p.R1791R	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1661					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1661S(3)|p.R1879S(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGGTCGATCCCTACGAATGC	0.408000														36			16		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54903535	54903535	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54903535C>T	uc001sgc.4	+	5	668	c.589C>T	c.(589-591)Cac>Tac	p.H197Y	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.H147Y	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	197					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GTTTGGGCCTCACACAAAGGC	0.488000														187			21		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136597649	136597649	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:136597649C>T	uc004cep.4	-	2	540	c.406G>A	c.(406-408)Gag>Aag	p.E136K	SARDH_uc004ceo.3_Missense_Mutation_p.E136K|SARDH_uc011mdo.2_5'UTR|SARDH_uc011mdn.2_Missense_Mutation_p.E136K	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	136					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	p.R135W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TCCTCCAGCTCCCGGCTCACC	0.672000														148			33		0	0	1	0	0
MMD	23531	broad.mit.edu	37	17	53488740	53488740	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:53488740G>A	uc002iui.3	-	2	432	c.147C>T	c.(145-147)ctC>ctT	p.L49L		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated (MMD), mRNA.	49					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						ACAGCCGATGGAGGAGGGCAC	0.438000														48			8		0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4069536	4069536	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:4069536T>G	uc003mvx.3	-	6	1327	c.921A>C	c.(919-921)agA>agC	p.R307S	FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Missense_Mutation_p.R244S	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.	307																	TCGTTTGTAGTCTTGGCCTCT	0.433000														85			40		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995791	19995791	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:19995791G>A	uc002ktv.1	-	0	2088	c.1984C>T	c.(1984-1986)Cct>Tct	p.P662S		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	662	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGAGGTGGAGGAACAAAGCCA	0.473000														233			96		0	0	1	0	0
DCAF16	54876	broad.mit.edu	37	4	17805519	17805519	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:17805519A>C	uc003gpn.3	-	2	1307	c.246T>G	c.(244-246)gaT>gaG	p.D82E	DCAF16_uc021xmp.1_Missense_Mutation_p.D82E	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 16 (DCAF16), mRNA.	82						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GTGTGCTTGGATCCAACAGTT	0.438000														112			19		0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40773888	40773888	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:40773888C>T	uc001cfh.1	-	16	988	c.876G>A	c.(874-876)ggG>ggA	p.G292G	COL9A2_uc001cfi.1_Silent_p.G111G	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	292	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGCCTGTGATCCCCTGGGGTC	0.627000														26			13		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13870966	13870966	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13870966C>T	uc003jfd.2	-	23	3786	c.3744G>A	c.(3742-3744)aaG>aaA	p.K1248K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1248	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)					CATCTAGGTCCTTAATTGGAC	0.373000									Kartagener syndrome					73			21		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42379884	42379884	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42379884G>A	uc001zox.3	-	1	155	c.60C>T	c.(58-60)acC>acT	p.T20T		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	20	C2.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GCTGCCAGCAGGTAGAGGCCT	0.637000														40			12		0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71610209	71610209	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71610209C>T	uc002fap.2	-	1	209	c.110G>A	c.(109-111)aGa>aAa	p.R37K	TAT_uc002faq.3_Missense_Mutation_p.R37K|TAT_uc002far.3_Missense_Mutation_p.R37K	NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	37					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CCTGGCCTTTCTGCCTTTCAT	0.502000														55			23		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139756733	139756733	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:139756733C>T	uc003vvl.1	-	2	1557	c.683G>A	c.(682-684)aGa>aAa	p.R228K	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	228						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ATGTGCATTTCTATAAATGGT	0.473000														126			33		0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47363609	47363609	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:47363609C>T	uc021qis.1	-	17	1778	c.1723G>A	c.(1723-1725)Ggt>Agt	p.G575S	MYBPC3_uc021qir.1_Missense_Mutation_p.G227S|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	574	Ig-like C2-type 4.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	p.R574R(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		AGCCACACACCCCGAACATTC	0.577000														15			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075383	9075383	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9075383G>A	uc002mkp.3	-	2	12267	c.12063C>T	c.(12061-12063)agC>agT	p.S4021S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4023	Ser-rich.|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						CCATGTAAGGGCTGACGTCCC	0.463000														70			21		0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42747236	42747236	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42747236C>T	uc002xli.1	-	2	2070	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	399	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTTCCGCTGCCTCAGCTTTGG	0.607000														126			56		0	0	1	0	0
MTHFSD	64779	broad.mit.edu	37	16	86575416	86575416	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:86575416G>A	uc002fjn.3	-	6	619	c.568C>T	c.(568-570)Cct>Tct	p.P190S	MTHFSD_uc002fjm.3_Missense_Mutation_p.P189S|MTHFSD_uc010voo.2_Missense_Mutation_p.P170S|MTHFSD_uc010vop.2_Missense_Mutation_p.P27S|MTHFSD_uc010voq.2_Missense_Mutation_p.P189S|MTHFSD_uc010vor.2_Missense_Mutation_p.P190S|MTHFSD_uc002fjo.3_Missense_Mutation_p.P27S|MTHFSD_uc002fjp.2_Missense_Mutation_p.P170S	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	Homo sapiens methenyltetrahydrofolate synthetase domain containing (MTHFSD), transcript variant 1, mRNA.	190					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						AGCTCTTCAGGGATGTCCACG	0.592000														34			6		0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378801	114378801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:114378801C>T	uc003pwg.4	-	1	693	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Missense_Mutation_p.E221K	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	221					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GTGTTCACTTCGCATGTATTA	0.398000														143			87		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287591	16287591	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:16287591C>T	uc010gqp.2	-	0	347	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	99								p.G99C(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CACCACTTGCCCATCTTGCTC	0.602000														396			88		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	160264	160264	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000192.1:160264C>T	uc010yih.1	-	11		c.2158G>A						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											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)				TTCTGGACATCCTTCAGTGTC	0.557000														107			14		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28519449	28519449	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:28519449G>A	uc001zbj.3	-	6	894	c.788C>T	c.(787-789)tCc>tTc	p.S263F	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	263					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGTCACGACGGACCTGAGGAA	0.592000														28			14		0	0	1	0	0
ZNF395	55893	broad.mit.edu	37	8	28209208	28209208	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:28209208G>A	uc003xgq.3	-	6	1125	c.1037C>T	c.(1036-1038)cCt>cTt	p.P346L	ZNF395_uc003xgt.3_Missense_Mutation_p.P346L|ZNF395_uc003xgr.3_Missense_Mutation_p.P346L|ZNF395_uc003xgs.3_Missense_Mutation_p.P346L	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	346					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGGAGTCCCAGGGACTGGGGT	0.627000														98			11		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393478	164393478	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:164393478C>T	uc003iqp.4	-	0	1570	c.1409G>A	c.(1408-1410)gGa>gAa	p.G470E		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	470						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAAGCACATTCCCTTGGTATT	0.468000														113			45		0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	28928094	28928094	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:28928094G>A	uc003xhh.4	-	39	5467	c.5408C>T	c.(5407-5409)tCg>tTg	p.S1803L	KIF13B_uc011laz.2_Missense_Mutation_p.S322L	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1803					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AGCTGTCAGCGAGGCCAGGTT	0.706000														12			6		0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148627436	148627436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:148627436C>T	uc003lpy.2	+	17	1894	c.1643C>T	c.(1642-1644)tCc>tTc	p.S548F	ABLIM3_uc003lpz.1_Missense_Mutation_p.S548F|ABLIM3_uc003lqa.1_Missense_Mutation_p.S445F|ABLIM3_uc003lqb.3_Missense_Mutation_p.S437F|ABLIM3_uc003lqc.1_Missense_Mutation_p.S515F|ABLIM3_uc003lqd.1_Missense_Mutation_p.S453F|ABLIM3_uc003lqe.1_Missense_Mutation_p.S437F|ABLIM3_uc003lqf.3_Missense_Mutation_p.S437F	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	548					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	p.S547R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCGGAGCTCCACCAGCAGC	0.602000														31			6		0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584886	30584886	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30584886C>T	uc002wxe.3	+	2	1540	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	456						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTGCATCTTCCGTAAGGCCTC	0.632000														84			42		0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46962038	46962038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:46962038C>T	uc001jea.3	-	7	1351	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	SYT15_uc001jdz.2_Intron|SYT15_uc001jeb.3_Missense_Mutation_p.E278K|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	400						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CTGAGCATCTCGTCCCAGTGC	0.677000														79			20		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150842658	150842658	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:150842658G>A	uc004fev.4	+	15	2507	c.2175_splice	c.e15+1	p.Q725_splice		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	725						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)					CCTACCATCAGGTATGGGACA	0.562000														65			11		0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32751184	32751184	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32751184C>T	uc001bux.3	+	12	1535	c.1397C>T	c.(1396-1398)cCa>cTa	p.P466L	LCK_uc001buy.3_Missense_Mutation_p.P466L|LCK_uc001buz.3_Missense_Mutation_p.P496L|LCK_uc001bva.3_Missense_Mutation_p.P473L	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	466	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GACAACTGTCCAGAGGAGCTG	0.592000			T	TRB@	T-ALL									74			15		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24491771	24491771	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:24491771G>A	uc003jgr.2	-	10	2296	c.1790C>T	c.(1789-1791)tCc>tTc	p.S597F	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	597	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		AGCACTGCAGGATTGCATGTT	0.527000										HNSCC(23;0.051)				83			34		0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159028717	159028717	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:159028717G>A	uc002tzq.3	-	13	1998	c.1684C>T	c.(1684-1686)Cat>Tat	p.H562Y	CCDC148_uc002tzr.3_Missense_Mutation_p.H410Y|CCDC148_uc010foh.3_Missense_Mutation_p.H275Y|LOC554201_uc021vro.1_Intron	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	562										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGTGTTCTATGAAGTCCAGCT	0.323000														88			8		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480155	73480155	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:73480155G>A	uc003xzb.3	+	1	774	c.186G>A	c.(184-186)ggG>ggA	p.G62G		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	62					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)			CGCGCCTGGGGAAGCTTCGAG	0.552000														105			23		0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206225329	206225329	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:206225329T>A	uc001hds.2	+	0	1047	c.889T>A	c.(889-891)Ttc>Atc	p.F297I		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	297					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTGGGCTCCCTTCTTCAGTGT	0.552000														69			31		0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111156421	111156421	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:111156421C>T	uc001plc.3	+	3	500	c.353C>T	c.(352-354)cCt>cTt	p.P118L		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	118										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CTCAGCCAGCCTGACCCTGTG	0.597000														60			37		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101351026	101351026	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:101351026C>T	uc010txj.1	-	0	159	c.100G>A	c.(100-102)Gag>Aag	p.E34K	MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	34										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GACGTCGCCTCGGTGGTGTTG	0.572000														24			13		0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92714929	92714929	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92714929C>T	uc001pdk.1	+	1	643	c.540C>T	c.(538-540)tcC>tcT	p.S180S		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	180					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TTGTGGGGTCCCTGGAGTACG	0.612000														62			9		0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128799	3128799	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3128799G>A	uc021vzx.1	-	0	918	c.918C>T	c.(916-918)atC>atT	p.I306I	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Silent_p.I306I	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	306					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TATATTTAAGGATCAATGATT	0.358000														88			34		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170044495	170044495	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170044495C>T	uc002ues.3	-	48	9526	c.9313G>A	c.(9313-9315)Gat>Aat	p.D3105N		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3105	LDL-receptor class A 25.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCTTTCTCATCGCTGTTGTCC	0.483000														95			23		0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14610413	14610413	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:14610413C>T	uc003jfj.3	+	7	1174	c.1061C>T	c.(1060-1062)cCa>cTa	p.P354L		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA.	354										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TACCACATTCCAGTCTTTTAA	0.532000														58			15		0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32261345	32261345	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32261345C>T	uc021yvt.1	-	22	1278	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	C6orf10_uc011dpx.2_Missense_Mutation_p.E360K|C6orf10_uc021yvs.1_Missense_Mutation_p.E286K|C6orf10_uc011dpz.2_Missense_Mutation_p.E367K|C6orf10_uc021yvu.1_Missense_Mutation_p.E367K|C6orf10_uc021yvv.1_Missense_Mutation_p.E353K	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	369						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TCACTCTTCTCTACCTGGGCT	0.493000														198			68		0	0	1	0	0
LOC440905	440905	broad.mit.edu	37	2	130792786	130792786	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:130792786C>T	uc002tpz.2	-	7		c.2543G>A								Homo sapiens uncharacterized LOC440905 (LOC440905), non-coding RNA.																		AATTAAGTCTCCCACAGCCAT	0.468000														30			19		0	0	1	0	0
ATP5A1	498	broad.mit.edu	37	18	43678154	43678154	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:43678154G>A	uc002lbr.1	-	0	134	c.44C>T	c.(43-45)cCt>cTt	p.P15L	ATP5A1_uc010dnl.1_5'UTR|ATP5A1_uc002lbs.1_5'UTR|ATP5A1_uc002lbt.1_Missense_Mutation_p.P15L|ATP5A1_uc010dnm.1_Non-coding_Transcript	NM_004046	NP_004037	P25705	ATPA_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	15					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|MHC class I protein binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GGCCCGCCGAGGAAGGGCGCG	0.711000														31			11		0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1943503	1943503	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:1943503C>T	uc001qjt.2	+	4	1535	c.729C>T	c.(727-729)ccC>ccT	p.P243P	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Silent_p.P243P|LRTM2_uc010sdx.1_Silent_p.P243P|LRTM2_uc001qjv.2_Silent_p.P5P	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	243	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGATGGTCCCCATGGAGATGT	0.597000														43			13		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55493558	55493558	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55493558G>A	uc021vbq.1	+	5	603	c.492G>A	c.(490-492)ttG>ttA	p.L164L	NLRP2_uc010yfp.2_Silent_p.L141L|NLRP2_uc002qij.3_Silent_p.L164L|NLRP2_uc010esp.3_Silent_p.L142L|NLRP2_uc010esn.3_Silent_p.L140L|NLRP2_uc010eso.3_Silent_p.L161L	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	164					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGTATATATTGAAGACGAAGT	0.453000														239			103		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17603053	17603053	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17603053C>T	uc001bai.3	+	11	1387	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	449					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGCGGGACTTCCTCCATGCCC	0.552000														80			20		0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148715266	148715267	+	Missense_Mutation	DNP	GG	CA	CA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:148715266_148715267GG>CA	uc003lqh.3	+	17	2395_2396	c.2264_2265GG>CA	c.(2263-2265)agg>aCA	p.R755T	AFAP1L1_uc010jgy.3_Intron|AFAP1L1_uc003lqi.2_Missense_Mutation_p.R370T	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA.	755							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCAAGGAAGGGTGCTACAGA	0.485000														112			39		0	0	1	0	0
CD14	929	broad.mit.edu	37	5	140011714	140011714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140011714G>A	uc003lgi.2	-	1	1234	c.855C>T	c.(853-855)ttC>ttT	p.F285F	CD14_uc003lgj.2_Silent_p.F285F|CD14_uc021yej.1_Silent_p.F285F|CD14_uc021yek.1_Silent_p.F285F|CD14_uc021yel.1_Silent_p.F154F	NM_000591	NP_001167576	P08571	CD14_HUMAN	Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.	285					Toll signaling pathway|apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCCCAGCGAACGACAGAT	0.612000														71			13		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140301677	140301677	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:140301677G>A	uc010lnk.3	-	2	1041	c.521C>T	c.(520-522)tCg>tTg	p.S174L	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.S174L|DENND2A_uc003vvw.3_Missense_Mutation_p.S174L|DENND2A_uc003vvx.3_Missense_Mutation_p.S174L	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	174										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAGCCCTGCCGACCCATCCTT	0.597000														80			10		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41754721	41754721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41754721G>A	uc010ehj.3	+	13	1897	c.1707G>A	c.(1705-1707)atG>atA	p.M569I	AXL_uc010ehk.3_Missense_Mutation_p.M560I	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	569	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TGAAGACGATGAAGAGTGAGT	0.547000														39			15		0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154543767	154543767	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154543767G>A	uc001ffg.3	+	4	732	c.468G>A	c.(466-468)aaG>aaA	p.K156K		NM_000748	NP_000739	P17787	ACHB2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 2 (neuronal) (CHRNB2), mRNA.	156					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.K156N(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	GCGCATGCAAGATTGAAGTAA	0.527000														53			38		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5436228	5436228	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:5436228C>T	uc002gci.3	-	10	3765	c.3210G>A	c.(3208-3210)acG>acA	p.T1070T	NLRP1_uc002gcg.1_Silent_p.T1074T|NLRP1_uc002gch.4_Silent_p.T1070T|NLRP1_uc002gck.3_Silent_p.T1070T|NLRP1_uc002gcj.3_Silent_p.T1040T|NLRP1_uc002gcl.3_Silent_p.T1040T|NLRP1_uc010clh.3_Silent_p.T1070T	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1070					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCAAAGGCTTCGTATGCAGGT	0.577000														34			23		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110413787	110413787	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110413787C>T	uc003yne.3	+	13	1447	c.1343C>T	c.(1342-1344)tCa>tTa	p.S448L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	448					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			ACACAAAGATCAGATGATATT	0.333000										HNSCC(38;0.096)				37			8		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104111	168104111	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:168104111G>A	uc002udx.3	+	8	6298	c.6209G>A	c.(6208-6210)gGa>gAa	p.G2070E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G1895E|XIRP2_uc010fpq.3_Missense_Mutation_p.G1848E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1895					actin cytoskeleton organization	cell junction	actin binding	p.G2070R(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATACTACAGGAGAACAGCAT	0.378000														76			13		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087032	92087032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92087032G>A	uc001pdj.4	+	0	1771	c.1754G>A	c.(1753-1755)gGa>gAa	p.G585E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	585	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTTGCCAGGGAGTTATTTCA	0.428000										TCGA Ovarian(4;0.039)				29			14		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228467731	228467731	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228467731G>A	uc009xez.1	+	27	7650	c.7606G>A	c.(7606-7608)Ggt>Agt	p.G2536S	OBSCN_uc001hsn.3_Missense_Mutation_p.G2536S|OBSCN_uc001hsp.1_Missense_Mutation_p.G235S|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2536	Ig-like 24.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCTGATGCTGGTGTCTACCG	0.612000														9			4		0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	73980758	73980758	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:73980758G>A	uc010rrj.2	-	10	1449	c.1406C>T	c.(1405-1407)tCg>tTg	p.S469L	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Missense_Mutation_p.S469L			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	469	Fe2OG dioxygenase.					endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					AGCTTCCACCGAGCTCAGCTA	0.547000														50			23		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114154814	114154814	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:114154814C>T	uc001kzu.3	+	1	390	c.278C>T	c.(277-279)cCc>cTc	p.P93L	ACSL5_uc001kzs.3_Missense_Mutation_p.P37L|ACSL5_uc001kzt.3_Missense_Mutation_p.P37L|ACSL5_uc009xxz.3_Missense_Mutation_p.P37L	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	37					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGACCTCAACCCGTCTTACCT	0.448000														91			31		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7576563	7576563	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7576563G>A	uc003mxp.1	+	18	2946	c.2667G>A	c.(2665-2667)agG>agA	p.R889R	DSP_uc003mxq.1_Silent_p.R889R|DSP_uc021yle.1_Silent_p.R889R	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	889	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)		AGCAATTGAGGAATTATCGTG	0.373000														71			32		0	0	1	0	0
MDS2	259283	broad.mit.edu	37	1	23908127	23908127	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:23908127C>T	uc001bhi.3	+	0		c.143C>T								Homo sapiens myelodysplastic syndrome 2 translocation associated (MDS2), non-coding RNA.											breast(1)|ovary(2)	3						aaactgggttcctctaagccc	0.557000			T	ETV6	MDS									12			7		0	0	1	0	0
CNN3	1266	broad.mit.edu	37	1	95363566	95363566	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:95363566G>A	uc001dqz.4	-	6	1007	c.722C>T	c.(721-723)tCg>tTg	p.S241L	CNN3_uc010otv.2_Missense_Mutation_p.S200L|CNN3_uc010otx.2_Missense_Mutation_p.S195L	NM_001839	NP_001830	Q15417	CNN3_HUMAN	Homo sapiens calponin 3, acidic (CNN3), mRNA.	241					actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		GGAAATTGTCGAGTTGTCCAC	0.443000														126			45		0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104238592	104238592	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104238592C>T	uc004bbm.3	-	1	1105	c.783G>A	c.(781-783)cgG>cgA	p.R261R	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.R261R	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	261						integral to membrane											ATTCCAGGATCCGCATGGGCT	0.552000														71			61		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853596	12853596	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12853596C>T	uc001auj.2	+	1	323	c.220C>T	c.(220-222)Cat>Tat	p.H74Y		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	74										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGACGCTTCATTTGGAGAC	0.557000														149			53		0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62751905	62751905	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62751905C>T	uc001nwk.3	-	0	591	c.258G>A	c.(256-258)tgG>tgA	p.W86*	SLC22A6_uc001nwl.3_Nonsense_Mutation_p.W86*|SLC22A6_uc001nwj.3_Nonsense_Mutation_p.W86*|SLC22A6_uc001nwm.3_Nonsense_Mutation_p.W86*	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	86					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGGGCAGTCCCCACTGCGGGG	0.637000														123			21		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46308272	46308272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46308272C>T	uc002pdm.3	-	2	1062	c.891G>A	c.(889-891)ggG>ggA	p.G297G	RSPH6A_uc002pdl.3_Silent_p.G33G	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	297						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CTGGTGTCTCCCCCTGCGCAG	0.582000														55			8		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48634378	48634378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48634378G>A	uc003toq.2	+	57	14737	c.14713G>A	c.(14713-14715)Gaa>Aaa	p.E4905K	ABCA13_uc010kys.1_Missense_Mutation_p.E1980K|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.E635K	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4905	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGAGGTTCGGGAAGGCTGTGC	0.488000														97			43		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41664893	41664893	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:41664893G>A	uc003gvz.4	+	19	3600	c.3183G>A	c.(3181-3183)gtG>gtA	p.V1061V	LIMCH1_uc003gwe.4_Silent_p.V676V|LIMCH1_uc003gvu.4_Silent_p.V676V|LIMCH1_uc003gvv.4_Silent_p.V676V|LIMCH1_uc003gvw.4_Silent_p.V676V|LIMCH1_uc003gvx.4_Silent_p.V664V|LIMCH1_uc003gvy.4_Silent_p.V505V|LIMCH1_uc003gwa.4_Silent_p.V517V|LIMCH1_uc011byu.2_Silent_p.V510V|LIMCH1_uc003gwc.4_Silent_p.V522V|LIMCH1_uc003gwd.4_Silent_p.V510V|LIMCH1_uc011byv.2_Silent_p.V427V|LIMCH1_uc011byw.2_5'UTR	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	676	LIM zinc-binding.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TGGCCTTTGTGGAATTTCCCT	0.458000														98			12		0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57379309	57379309	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57379309G>A	uc001nkp.1	+	6	1340	c.1149G>A	c.(1147-1149)atG>atA	p.M383I	SERPING1_uc010rju.1_Missense_Mutation_p.M331I|SERPING1_uc010rjv.1_Missense_Mutation_p.M388I|SERPING1_uc001nkr.1_Missense_Mutation_p.M383I|SERPING1_uc001nks.1_Missense_Mutation_p.M74I	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	383					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						AGGCCATCATGGAGAAACTGG	0.498000														119			40		0	0	1	0	0
BBC3	27113	broad.mit.edu	37	19	47725025	47725025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47725025G>A	uc010xyl.2	-	3	883	c.719C>T	c.(718-720)tCg>tTg	p.S240L	BBC3_uc002pgf.4_3'UTR|BBC3_uc010eky.3_3'UTR|BBC3_uc010ekz.3_Missense_Mutation_p.S80L	NM_001127240	NP_055232	Q9BXH1	BBC3_HUMAN	Homo sapiens BCL2 binding component 3 (BBC3), transcript variant 1, mRNA.	0					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol	cytosol|mitochondrial outer membrane	protein binding			endometrium(1)|lung(2)|skin(1)	4		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		CCTGCCCCCCGAGTCCCTGAC	0.672000														15			9		0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021806	5021806	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:5021806G>A	uc001qnh.3	+	1	2367	c.1262G>A	c.(1261-1263)gGg>gAg	p.G421E	KCNA1_uc021qts.1_Missense_Mutation_p.G421E	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	421					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.E420Q(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAAACTGAGGGGGAAGAGCAG	0.527000														240			103		0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10132227	10132227	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:10132227C>T	uc002raa.3	+	10	1585	c.1414C>T	c.(1414-1416)Ctc>Ttc	p.L472F	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Missense_Mutation_p.L283F|GRHL1_uc010yjb.2_Missense_Mutation_p.L321F	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	472					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TCAGCCTGTCCTCTTCATTCC	0.483000														50			13		0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124459274	124459274	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124459274C>T	uc001lgn.3	-	0	65	c.33G>A	c.(31-33)agG>agA	p.R11R		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	11										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTTTTTCAATCCTCTGACAGT	0.428000														64			22		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61542375	61542375	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61542375G>A	uc002ydr.2	-	2	902	c.590C>T	c.(589-591)cCc>cTc	p.P197L	DIDO1_uc002yds.2_Missense_Mutation_p.P197L|DIDO1_uc002ydt.2_Missense_Mutation_p.P197L|DIDO1_uc002ydu.2_Missense_Mutation_p.P197L|DIDO1_uc002ydv.2_Missense_Mutation_p.P197L|DIDO1_uc002ydw.2_Missense_Mutation_p.P197L|DIDO1_uc002ydx.2_Missense_Mutation_p.P197L|DIDO1_uc011aao.1_Missense_Mutation_p.P197L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	197					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGTCTCGGCGGGACCCTCCTC	0.657000														35			28		0	0	1	0	0
GCFC1	94104	broad.mit.edu	37	21	34123226	34123226	+	Splice_Site	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:34123226A>G	uc002yqn.3	-	10	1913	c.1723_splice	c.e10+1	p.D575_splice	GCFC1_uc002yql.3_Splice_Site_p.D84_splice|GCFC1_uc002yqm.3_Splice_Site_p.D69_splice|GCFC1_uc002yqo.3_Splice_Site|GCFC1_uc002yqp.3_Splice_Site_p.D575_splice	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 1 (GCFC1), transcript variant 1, mRNA.	575						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(11)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	39						TAAATGTCTAACCTTTTTCCA	0.358000														58			31		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588393	204588393	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204588393G>A	uc021phy.1	-	0	728	c.728C>T	c.(727-729)tCc>tTc	p.S243F	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.S243F|LRRN2_uc001hbf.1_Missense_Mutation_p.S243F|LRRN2_uc009xbf.1_Missense_Mutation_p.S243F|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	243					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTCATAGAAGGAGAGGCTCTC	0.642000														59			15		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32378891	32378891	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:32378891C>T	uc002wzy.3	+	14	2153	c.2133C>T	c.(2131-2133)ttC>ttT	p.F711F	ZNF341_uc002wzx.3_Silent_p.F704F|ZNF341_uc010geq.3_Silent_p.F621F|ZNF341_uc010ger.3_Non-coding_Transcript|ZNF341_uc002wzz.3_Silent_p.F138F	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						ACTACAAGTTCCGCTGTGCTG	0.622000														45			23		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43552311	43552311	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43552311C>T	uc001zrd.2	-	2	383	c.375G>A	c.(373-375)caG>caA	p.Q125Q	TGM5_uc001zre.2_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	125					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TCACAGACCCCTGGAAGGAGT	0.612000														75			53		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792787	131792787	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:131792787G>A	uc003ytd.4	-	17	3861	c.3605C>T	c.(3604-3606)tCc>tTc	p.S1202F	ADCY8_uc010mds.3_Missense_Mutation_p.S1071F	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1202					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCTATTGAGGGACTGGACAAG	0.537000										HNSCC(32;0.087)				60			43		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23083503	23083503	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23083503G>A	uc002dll.3	-	14	2351	c.2351C>T	c.(2350-2352)tCc>tTc	p.S784F	USP31_uc002dlk.3_Missense_Mutation_p.S56F|USP31_uc010vca.2_Missense_Mutation_p.S87F|USP31_uc010bxm.3_Missense_Mutation_p.S72F	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	784	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTCACACAGGGAAGAACTTGT	0.622000														52			17		0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33507692	33507692	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:33507692G>A	uc002hja.3	+	17	2473	c.2376G>A	c.(2374-2376)aaG>aaA	p.K792K	UNC45B_uc002hjb.3_Silent_p.K790K|UNC45B_uc002hjc.3_Silent_p.K790K|UNC45B_uc010cto.3_Silent_p.K711K	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	792					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGCTCCACAAGGAGGTGAGGC	0.602000														23			11		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807501	20807501	+	Silent	SNP	C	T	T	rs111500900		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:20807501C>T	uc002npb.1	-	3	1332	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E	ZNF626_uc002npc.1_Silent_p.E318E	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGTAGGGTTTCTCTCCAGTAT	0.393000														85			25		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4950860	4950860	+	Missense_Mutation	SNP	C	T	T	rs149764746	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:4950860C>T	uc002cyd.1	-	5	667	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	193					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCCCGGAGTTCGCTGTTCTGC	0.657000														207			56		0	0	1	0	0
C5orf48	389320	broad.mit.edu	37	5	125971753	125971753	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:125971753C>T	uc003kub.1	+	2	238	c.225C>T	c.(223-225)ggC>ggT	p.G75G		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	Homo sapiens chromosome 5 open reading frame 48 (C5orf48), mRNA.	75										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						TCCATACTGGCCCTTTAGAAG	0.383000														178			30		0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10079019	10079019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:10079019G>A	uc021xlv.1	-	13	1906	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	WDR1_uc021xlw.1_Silent_p.S401S|WDR1_uc010idm.3_Non-coding_Transcript	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	541					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CATTGTCTGGGGACCAGGCCA	0.507000														88			22		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165984293	165984293	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:165984293C>T	uc002ucx.3	-	17	3733	c.3241G>A	c.(3241-3243)Gaa>Aaa	p.E1081K	SCN3A_uc002ucy.3_Missense_Mutation_p.E1032K|SCN3A_uc002ucz.3_Missense_Mutation_p.E1032K|SCN3A_uc002uda.1_Missense_Mutation_p.E901K|SCN3A_uc002udb.1_Missense_Mutation_p.E901K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1081						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ACGTATTTTTCAACACTGCTT	0.393000														62			24		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37447489	37447489	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:37447489G>A	uc021ppc.1	+	14	1806	c.1707G>A	c.(1705-1707)ttG>ttA	p.L569L	ANKRD30A_uc001iza.1_Silent_p.L569L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	625						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCTTAGAATTGAAGGACATGC	0.289000														97			30		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059007	79059007	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:79059007C>T	uc002bej.4	-	18	3457	c.3246G>A	c.(3244-3246)gaG>gaA	p.E1082E	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1082					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GATCGGGCTCCTCAGAGGGCC	0.632000														51			7		0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471412	47471412	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:47471412C>T	uc001rpm.3	-	2	2029	c.1374G>A	c.(1372-1374)cgG>cgA	p.R458R	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Silent_p.R458R|AMIGO2_uc001rpl.3_Silent_p.R458R|AMIGO2_uc021qxg.1_Silent_p.R458R	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	458					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CACCTGCCTTCCGTTCATCAG	0.512000														67			17		0	0	1	0	0
EBI3	10148	broad.mit.edu	37	19	4231288	4231288	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4231288C>T	uc002lzu.3	+	1	176	c.168C>T	c.(166-168)tcC>tcT	p.S56S		NM_005755	NP_005746	Q14213	IL27B_HUMAN	Homo sapiens Epstein-Barr virus induced 3 (EBI3), mRNA.	56	Fibronectin type-III 1.				T-helper 1 type immune response|humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAAACTCCACCAGCCCCG	0.657000														27			4		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871662	8871662	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:8871662G>A	uc002qzc.2	-	29	4686	c.4504C>T	c.(4504-4506)Ctc>Ttc	p.L1502F	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.L1403F|KIDINS220_uc002qzb.2_Missense_Mutation_p.L356F	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1502					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCTGGAAGAGGCTTGACCTT	0.473000														46			19		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86196269	86196269	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:86196269C>T	uc001dlj.3	-	59	5180	c.5105G>A	c.(5104-5106)cGa>cAa	p.R1702Q	COL24A1_uc001dli.3_Missense_Mutation_p.R817Q|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.R1002Q|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1702	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent	p.R1702Q(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTAATACTTTCGTTCAGTTTT	0.413000														82			32		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49052746	49052746	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:49052746G>A	uc003gyv.3	+	14	2083	c.1901G>A	c.(1900-1902)aGt>aAt	p.S634N	CWH43_uc011bzl.2_Missense_Mutation_p.S607N	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	634					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTGAACTGAGTGATTCAGAA	0.383000														70			34		0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215301468	215301468	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:215301468C>T	uc002vet.2	+	2	636	c.506C>T	c.(505-507)cCt>cTt	p.P169L	VWC2L_uc010zjl.1_Intron	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	169	VWFC 2.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						CAATGTTGTCCTGTCTGCAAA	0.453000														31			14		0	0	1	0	0
CYP17A1	1586	broad.mit.edu	37	10	104596855	104596855	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104596855C>T	uc001kwg.3	-	0	436	c.264G>A	c.(262-264)aaG>aaA	p.K88K		NM_000102	NP_000093	P05093	CP17A_HUMAN	Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.	88					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	CCTTGCCCTTCTTAATAAGCA	0.547000														81			34		0	0	1	0	0
TCRBV20S1	0	broad.mit.edu	37	7	142032366	142032366	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142032366G>A	uc011krs.1	+	1	219	c.186G>A	c.(184-186)ctG>ctA	p.L62L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron					Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds.																		GGCAGGGCCTGGAGTTTCCAA	0.507000														25			6		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85401165	85401165	+	Missense_Mutation	SNP	C	T	T	rs139722212		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:85401165C>T	uc002ble.3	+	5	3969	c.3802C>T	c.(3802-3804)Ccc>Tcc	p.P1268S		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1268					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)			GGGTCCTGGTCCCAGCTCCCT	0.687000														19			6		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102067320	102067320	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:102067320G>A	uc001tii.3	+	23	2848	c.2708G>A	c.(2707-2709)aGg>aAg	p.R903K	MYBPC1_uc001tig.3_Missense_Mutation_p.R910K|MYBPC1_uc010svr.2_Missense_Mutation_p.R885K|MYBPC1_uc010svs.2_Missense_Mutation_p.R903K|MYBPC1_uc001tij.3_Missense_Mutation_p.R885K|MYBPC1_uc010svt.2_Missense_Mutation_p.R873K|MYBPC1_uc010svu.2_Missense_Mutation_p.R866K|MYBPC1_uc001tik.3_Missense_Mutation_p.R859K|MYBPC1_uc001tih.3_Missense_Mutation_p.R910K|MYBPC1_uc010svq.2_Missense_Mutation_p.R872K|MYBPC1_uc001til.3_5'UTR	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	903	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.I902I(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AAAGCAGAGAGGAGCCACTCT	0.388000														178			84		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160519	132160519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:132160519C>T	uc011mvf.2	-	0	1782	c.1730G>A	c.(1729-1731)cGa>cAa	p.R577Q	USP26_uc010nrm.1_Missense_Mutation_p.R577Q	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	577					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AGTCATCTTTCGAATAACTTT	0.398000														22			38		0	0	1	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36500359	36500359	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36500359C>T	uc021wdj.1	+	15	1727	c.1636C>T	c.(1636-1638)Ccg>Tcg	p.P546S	CTNNBL1_uc002xhh.3_Missense_Mutation_p.P359S|CTNNBL1_uc002xhi.3_Non-coding_Transcript|CTNNBL1_uc002xhj.3_Missense_Mutation_p.P294S	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	546					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CGGCCGGAGCCCGGAGTTCCG	0.597000														69			17		0	0	1	0	0
NEURL	9148	broad.mit.edu	37	10	105331392	105331392	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105331392C>T	uc001kxh.3	+	2	872	c.462C>T	c.(460-462)gcC>gcT	p.A154A	NEURL_uc021pxn.1_Silent_p.A137A	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	154	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCTTCTGGGCCAAGGCGCTGC	0.622000														34			18		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873950	36873950	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36873950C>T	uc003cgj.3	-	20	7240	c.6992G>A	c.(6991-6993)gGg>gAg	p.G2331E		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2331					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTGCCTCTCCCCCTGCCCCT	0.502000														111			52		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53223903	53223903	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53223903C>T	uc001sbb.3	-	4	793	c.760_splice	c.e4-1	p.D254_splice	KRT79_uc001sba.3_Splice_Site_p.D25_splice	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	254	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATCCACATCCTGGGGACGAG	0.582000														51			19		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1189698	1189698	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:1189698G>A	uc003boz.3	+	1	273	c.6G>A	c.(4-6)agG>agA	p.R2R	CNTN6_uc010hbo.2_5'UTR|CNTN6_uc011asj.2_Intron|CNTN6_uc003bpa.3_Silent_p.R2R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	2					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)		TGGAAATGAGGTTGCTATGGA	0.348000														134			16		0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43569108	43569108	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43569108G>C	uc001zrf.1	-	11	1930	c.1925C>G	c.(1924-1926)aCg>aGg	p.T642R		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	642					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CAGCACCATCGTGCAGCTGCT	0.582000														42			21		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84606558	84606558	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:84606558G>A	uc004amn.3	+	3	1220	c.1173G>A	c.(1171-1173)ggG>ggA	p.G391G		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	391						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CCTTTTTAGGGGGGCACTCTG	0.473000														49			16		0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150259114	150259114	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:150259114C>T	uc001euj.3	+	4	1355	c.906C>T	c.(904-906)ccC>ccT	p.P302P	C1orf51_uc001euh.3_Silent_p.P302P|C1orf51_uc001eui.3_Silent_p.P214P	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	302										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGTGCAACCCTTCACCCACT	0.557000														168			17		0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159166610	159166610	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:159166610C>T	uc003qrp.3	+	12	1353	c.954C>T	c.(952-954)ttC>ttT	p.F318F	SYTL3_uc003qrr.3_Silent_p.F318F|SYTL3_uc003qro.3_Silent_p.F250F|SYTL3_uc003qrs.3_Silent_p.F250F|SYTL3_uc011efq.2_Silent_p.F44F	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	318	C2 1.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		ATTATTGCTTCAAAACCCATT	0.358000														14			6		0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105215432	105215432	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105215432T>A	uc001kxe.2	-	1	768	c.628A>T	c.(628-630)Acg>Tcg	p.T210S	CALHM2_uc001kxd.1_5'Flank	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	Homo sapiens calcium homeostasis modulator 1 (CALHM1), mRNA.	210						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GCGGCCTGCGTGAAGCAGGGC	0.612000														62			9		0	0	1	0	0
GNA15	2769	broad.mit.edu	37	19	3155824	3155824	+	Silent	SNP	C	T	T	rs140382547		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3155824C>T	uc002lxf.2	+	4	876	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_002068	NP_002059	P30679	GNA15_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA.	206					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CCTGTAGGATCGTGGACGTCG	0.557000														46			19		0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49031038	49031038	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:49031038G>A	uc001zwz.3	-	26	4734	c.4541C>T	c.(4540-4542)cCt>cTt	p.P1514L	CEP152_uc001zwy.3_Missense_Mutation_p.P1458L	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	1458					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGATTCAGAAGGACCAGGGGT	0.398000														66			26		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160093842	160093842	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160093842C>T	uc001fvc.3	+	4	623	c.491C>T	c.(490-492)cCt>cTt	p.P164L	ATP1A2_uc001fvb.2_Missense_Mutation_p.P164L|ATP1A2_uc010piz.1_Missense_Mutation_p.P9L	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	164					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AACATGGTACCTCAGGTAAGA	0.532000														57			17		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48248804	48248804	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:48248804G>A	uc002eff.1	-	7	1586	c.1236C>T	c.(1234-1236)ctC>ctT	p.L412L	ABCC11_uc002efg.1_Silent_p.L412L|ABCC11_uc002efh.1_Silent_p.L412L|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	412	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TTGACGCTGTGAGTTTCAGCT	0.502000														41			18		0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94776126	94776126	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94776126G>A	uc001ycv.3	-	2	935	c.831C>T	c.(829-831)atC>atT	p.I277I	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	277					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	p.V276F(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TCAGTGCAGCGATGACTGTGT	0.562000														89			34		0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105769081	105769081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:105769081G>A	uc001pix.2	+	6	1259	c.813G>A	c.(811-813)atG>atA	p.M271I	GRIA4_uc001piu.1_Missense_Mutation_p.M271I|GRIA4_uc001piw.2_Missense_Mutation_p.M271I|GRIA4_uc009yxk.1_Missense_Mutation_p.M271I	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	271					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATACACCTATGGTAATCAAAC	0.353000														54			21		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41416085	41416085	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41416085C>T	uc002yyq.1	-	30	5755	c.5303G>A	c.(5302-5304)tGg>tAg	p.W1768*	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1768					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGCAGCCTCCAGTCTGTGGT	0.617000														92			36		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196642646	196642646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196642646C>T	uc002utj.4	-	58	11043	c.10942G>A	c.(10942-10944)Gat>Aat	p.D3648N	DNAH7_uc002uti.4_Missense_Mutation_p.D131N	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3648					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D3648N(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCCAGTCATCGGTCACTCTG	0.473000														54			17		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069366	9069366	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9069366G>A	uc002mkp.3	-	2	18284	c.18080C>T	c.(18079-18081)tCc>tTc	p.S6027F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6029	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						TGAGACAGAGGAATGTAGTTT	0.453000														154			81		0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117870052	117870052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:117870052G>A	uc001prv.3	+	6	1510	c.1433G>A	c.(1432-1434)gGg>gAg	p.G478E	IL10RA_uc010rxl.2_Missense_Mutation_p.G458E|IL10RA_uc010rxm.2_Missense_Mutation_p.G458E|IL10RA_uc010rxn.2_Missense_Mutation_p.G329E|IL10RA_uc001prw.3_Missense_Mutation_p.G329E	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	478						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CCCAAATTCGGGAGATGCCTG	0.562000														69			19		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161132108	161132108	+	Splice_Site	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:161132108G>C	uc003qtm.4	+	4	405	c.293_splice	c.e4-1	p.V98_splice	PLG_uc021zhr.1_Splice_Site_p.V98_splice	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	98	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTTCCCTTCAGTGTATCTCTC	0.453000														24			20		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38647586	38647586	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38647586G>A	uc021wvo.1	-	8	1246	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	SCN5A_uc021wvk.1_Silent_p.F398F|SCN5A_uc021wvl.1_Silent_p.F398F|SCN5A_uc021wvm.1_Silent_p.F398F|SCN5A_uc021wvn.1_Silent_p.F398F|SCN5A_uc021wvp.1_Silent_p.F398F|SCN5A_uc021wvq.1_Silent_p.F398F|SCN5A_uc021wvr.1_Silent_p.F398F|SCN5A_uc021wvs.1_Silent_p.F398F|SCN5A_uc021wvt.1_Silent_p.F398F|SCN5A_uc021wvu.1_Silent_p.F398F|SCN5A_uc021wvv.1_Silent_p.F398F|SCN5A_uc021wvj.1_Silent_p.F264F|SCN5A_uc021wvi.1_Silent_p.F264F|SCN5A_uc021wvw.1_Silent_p.F9F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	398					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGGACCCCAGGAAGATGACAA	0.577000														64			15		0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50383659	50383660	+	Splice_Site	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50383659_50383660GG>AA	uc002pqo.3	+	4	618	c.319_splice	c.e4+1	p.G107_splice	TBC1D17_uc010enn.2_Splice_Site|TBC1D17_uc010ybg.2_Splice_Site_p.G74_splice|TBC1D17_uc002pqp.3_Splice_Site|TBC1D17_uc002pqr.3_Splice_Site	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	107						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GCCCACGAGAGGTAGGCTGAGG	0.594000														32			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179456933	179456933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179456933C>T	uc021vsy.1	-	250	52219	c.51994G>A	c.(51994-51996)Gaa>Aaa	p.E17332K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E11027K|TTN_uc021vta.1_Missense_Mutation_p.E10960K|TTN_uc021vtb.1_Missense_Mutation_p.E10835K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18259	Fibronectin type-III 25.						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)			TCCAGTGGTTCTTTCCAAGTA	0.408000														19			11		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156909560	156909560	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156909560G>A	uc001fqo.3	-	35	4796	c.3756C>T	c.(3754-3756)tcC>tcT	p.S1252S	ARHGEF11_uc010phu.2_Silent_p.S668S|ARHGEF11_uc001fqn.3_Silent_p.S1292S	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	1252					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTTGCCCTGGGGAGCCTGGGT	0.642000														43			15		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1987498	1987498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:1987498G>A	uc021qsx.1	-	15	1933	c.1702C>T	c.(1702-1704)Ccc>Tcc	p.P568S	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.P456S	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	568	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CGGAGGTCGGGATGGGAGAGG	0.507000														6			4		0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64202268	64202268	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:64202268C>T	uc002lkc.1	-	7	1429	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.E431K|CDH19_uc002lkd.3_Missense_Mutation_p.E431K	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	431	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GCACTGATTTCACGATCCAGT	0.328000														66			14		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79067090	79067090	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:79067090G>A	uc002bej.4	-	11	1963	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Silent_p.F584F	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	584	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGCAGAGGCGGAAGCGCTTGC	0.637000														70			16		0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49932749	49932749	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49932749G>A	uc003cxy.4	-	13	3386	c.3122C>T	c.(3121-3123)tCc>tTc	p.S1041F	MST1R_uc011bdc.2_Missense_Mutation_p.S992F	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	1041					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TTCACTATCGGAGAAGGATGC	0.562000														108			45		0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75325210	75325210	+	Splice_Site	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75325210T>G	uc021rwo.1	-	3	1312	c.1312_splice	c.e3-1	p.E438_splice	PROX2_uc001xqp.2_Splice_Site_p.E436_splice|PROX2_uc001xqq.2_Intron	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	438					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GTTTAGACCCTCCTGGATTTA	0.383000														7			7		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87772364	87772364	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87772364C>T	uc003ujn.3	+	14	1459	c.1244C>T	c.(1243-1245)aCc>aTc	p.T415I	ADAM22_uc003ujk.2_Missense_Mutation_p.T415I|ADAM22_uc003ujl.2_Missense_Mutation_p.T415I|ADAM22_uc003ujm.3_Missense_Mutation_p.T415I|ADAM22_uc003ujo.3_Missense_Mutation_p.T415I|ADAM22_uc003ujp.1_Missense_Mutation_p.T467I	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	415	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AAAAAGTTCACCCAGTGTAAT	0.358000														127			32		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103427784	103427784	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:103427784C>T	uc001dum.3	-	39	3416	c.3098G>A	c.(3097-3099)gGa>gAa	p.G1033E	COL11A1_uc001duk.3_Missense_Mutation_p.G217E|COL11A1_uc001dul.3_Missense_Mutation_p.G1021E|COL11A1_uc001dun.3_Missense_Mutation_p.G982E|COL11A1_uc009weh.3_Missense_Mutation_p.G905E	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1021	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)		TCCTGCTGGTCCATCTTTCCC	0.378000														103			18		0	0	1	0	0
GNLY	10578	broad.mit.edu	37	2	85921566	85921566	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:85921566C>T	uc002sql.4	+	0	153	c.25C>T	c.(25-27)Ctt>Ttt	p.L9F	GNLY_uc010fgp.3_5'UTR|GNLY_uc010ysx.2_Missense_Mutation_p.L9F	NM_006433	NP_006424	P22749	GNLY_HUMAN	Homo sapiens granulysin (GNLY), transcript variant NKG5, mRNA.	9					cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						CCTCCTGCTCCTTGCAGCCAT	0.617000														56			25		0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101609053	101609053	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:101609053C>T	uc003yjr.3	-	9	943	c.792G>A	c.(790-792)cgG>cgA	p.R264R	SNX31_uc011lha.2_Silent_p.R59R|SNX31_uc011lhb.2_Silent_p.R165R	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	264					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GCCGTACCTCCCGGGCCAGCT	0.512000														83			31		0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390475	61390475	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61390475G>A	uc002ljk.4	+	8	1189	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	SERPINB11_uc010xes.2_Missense_Mutation_p.E166K|SERPINB11_uc010dqd.3_Intron|SERPINB11_uc002ljj.4_Missense_Mutation_p.E227K|SERPINB11_uc010dqe.3_Missense_Mutation_p.E140K|SERPINB11_uc010dqf.3_Missense_Mutation_p.E139K	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	341					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GGATGTCAGCGAAGAGGGCAC	0.498000														53			10		0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141336442	141336442	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:141336442C>T	uc003llx.3	-	0	2186	c.975G>A	c.(973-975)agG>agA	p.R325R		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	325	Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCCAGGTCCCTTGCCTGAA	0.522000														56			25		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73152144	73152144	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:73152144C>T	uc004aid.3	-	24	4093	c.3849G>A	c.(3847-3849)tcG>tcA	p.S1283S	TRPM3_uc004ahu.3_Silent_p.S1125S|TRPM3_uc004ahv.3_Silent_p.S1085S|TRPM3_uc004ahw.3_Silent_p.S1155S|TRPM3_uc004ahx.3_Silent_p.S1142S|TRPM3_uc004ahy.3_Silent_p.S1145S|TRPM3_uc004ahz.3_Silent_p.S1132S|TRPM3_uc004aia.3_Silent_p.S1130S|TRPM3_uc004aib.3_Silent_p.S1120S|TRPM3_uc004aic.3_Silent_p.S1283S	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1308						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACGAGGTCCTCGAGCGGATTT	0.612000														64			33		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211192190	211192190	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:211192190C>T	uc001hib.2	-	5	1137	c.967G>A	c.(967-969)Ggt>Agt	p.G323S	KCNH1_uc001hic.2_Intron	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	323					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCTGGATCACCCATAAAGGCA	0.468000														129			38		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106405642	106405642	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106405642G>A	uc021ser.1	-	3033		c.50150C>T								Parts of antibodies, mostly variable regions.																		CGTGTCCTCGGGAGTCACAGA	0.502000														150			72		0	0	1	0	0
HERC2P2	400322	broad.mit.edu	37	15	23299694	23299694	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:23299694G>A	uc001yvq.2	-	4		c.1714C>T			HERC2P2_uc001yvo.4_Non-coding_Transcript|HERC2P2_uc001yvp.4_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 2 (HERC2P2), non-coding RNA.																		GGAGTAGGCGGCATCATCCAT	0.592000														44			8		0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36348818	36348818	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:36348818C>T	uc001uvf.3	-	17	2434	c.2151G>A	c.(2149-2151)agG>agA	p.R717R	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Silent_p.R410R|DCLK1_uc010teh.2_Missense_Mutation_p.E386K|DCLK1_uc010abk.3_Silent_p.R237R	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	0					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACCTGCCTCTCCTTATCAAGA	0.512000														10			3		0	0	1	0	0
UBE2U	148581	broad.mit.edu	37	1	64671357	64671357	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:64671357G>A	uc001dbn.1	+	1	346	c.102G>A	c.(100-102)atG>atA	p.M34I		NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2U (putative) (UBE2U), mRNA.	34							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						AAGATATGATGGAATGGGAAG	0.274000														92			21		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34006240	34006240	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34006240G>A	uc001bxm.1	-	59	9693	c.9516C>T	c.(9514-9516)ttC>ttT	p.F3172F	CSMD2_uc001bxn.1_Silent_p.F3028F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3148	Sushi 25.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGCCCCACATGAAGTCAGACC	0.602000														87			33		0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100148243	100148243	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:100148243G>A	uc001kpc.3	-	12	1401	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	PYROXD2_uc001kpb.3_Intron	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	439							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						AGCGAGGAAGGGATGCAGAGC	0.622000														13			8		0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447993	24447993	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24447993G>A	uc001biq.2	-	6	1230	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	IL22RA1_uc010oeg.1_Missense_Mutation_p.P275S|IL22RA1_uc009vrb.2_Missense_Mutation_p.P207S|IL22RA1_uc010oeh.2_Missense_Mutation_p.P343S	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	343						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		AGGATCTGGGGAGGTGGCACG	0.627000														61			30		0	0	1	0	0
TPTEP1	387590	broad.mit.edu	37	22	17119611	17119611	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17119611C>T	uc002zls.1	+	1		c.448C>T			TPTEP1_uc002zlr.3_Non-coding_Transcript|TPTEP1_uc002zlt.3_Non-coding_Transcript					Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		GGATGTTCTTCTTCGAGTATT	0.358000														48			21		0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70764432	70764432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:70764432C>T	uc004eaa.2	+	3	716	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.R150C|OGT_uc004eac.3_5'Flank|OGT_uc004ead.3_5'Flank|OGT_uc011mpw.2_Missense_Mutation_p.R160C	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	160					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GTACTGTGTTCGCAGTGACCT	0.398000														15			3		0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795341	142795341	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:142795341C>T	uc004fbz.3	-	1	1091	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	113								p.D112G(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGTCTTCGTCCTCCTGT	0.532000														241			18		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74013982	74013982	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74013982G>A	uc010wss.1	-	13	1842	c.1614C>T	c.(1612-1614)ggC>ggT	p.G538G	EVPL_uc002jqi.2_Silent_p.G516G|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	516	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCAGGTCTGAGCCAGATGGAG	0.657000														55			18		0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190468	58190468	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:58190468G>A	uc010rkg.2	-	0	319	c.267C>T	c.(265-267)gtC>gtT	p.V89V		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGTAGGAGATGACCTTGTCTC	0.488000														122			45		0	0	1	0	0
PKIA	5569	broad.mit.edu	37	8	79513998	79513998	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:79513998G>A	uc003yba.3	+	3	697	c.173G>A	c.(172-174)cGa>cAa	p.R58Q	PKIA_uc003ybb.3_Missense_Mutation_p.R58Q|PKIA_uc010lzo.3_Missense_Mutation_p.R58Q	NM_006823	NP_862822	P61925	IPKA_HUMAN	Homo sapiens protein kinase (cAMP-dependent, catalytic) inhibitor alpha (PKIA), transcript variant 1, mRNA.	58							cAMP-dependent protein kinase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						GATGCACAACGAAGTTCTACA	0.388000														31			7		0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54822693	54822693	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54822693G>A	uc002qfe.3	-	4	823	c.703C>T	c.(703-705)Ccg>Tcg	p.P235S	LILRA5_uc002qff.3_Missense_Mutation_p.P223S|LILRA5_uc010yev.2_Missense_Mutation_p.P235S|LILRA5_uc010yew.2_Missense_Mutation_p.P223S|LILRA5_uc002qfg.1_Missense_Mutation_p.P235S|LILRA5_uc002qfh.1_Missense_Mutation_p.P223S	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	235					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTGAGACCGGAATCTCCAGG	0.567000														80			36		0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27361019	27361019	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27361019G>A	uc002rjb.2	-	2	759	c.179C>T	c.(178-180)tCc>tTc	p.S60F	C2orf53_uc021vfb.1_Missense_Mutation_p.S60F	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	60	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAGGGGAGGAGGGACGACG	0.572000														28			7		0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55658779	55658779	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55658779G>A	uc010rip.2	+	6	1122	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	TRIM51_uc010riq.2_Missense_Mutation_p.E201K	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	344	B30.2/SPRY.					intracellular	zinc ion binding										ATATTATTGGGAGGTTCATAT	0.433000														143			56		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148669	34148669	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:34148669C>T	uc004ddg.3	-	0	1779	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	576								p.R576Q(4)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTAGGATGCTCGAATCTTGGG	0.512000														30			15		0	0	1	0	0
SPRY2	10253	broad.mit.edu	37	13	80911411	80911411	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:80911411G>A	uc001vli.3	-	1	1408	c.430C>T	c.(430-432)Cct>Tct	p.P144S	SPRY2_uc001vlj.3_Missense_Mutation_p.P144S|SPRY2_uc021rkz.1_Missense_Mutation_p.P144S	NM_005842	NP_005833	O43597	SPY2_HUMAN	Homo sapiens sprouty homolog 2 (Drosophila) (SPRY2), mRNA.	144					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		TCAGCAACAGGCCCGGAGGAG	0.562000														57			21		0	0	1	0	0
RDBP	7936	broad.mit.edu	37	6	31921902	31921902	+	Silent	SNP	G	A	A	rs141063076		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31921902G>A	uc003nyk.3	-	8	1101	c.897C>T	c.(895-897)ttC>ttT	p.F299F	RDBP_uc011dot.2_Silent_p.F269F	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	299	RRM.				positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						CATAGGTGACGAAGGCACAGC	0.527000														30			11		0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37831637	37831637	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:37831637G>A	uc011byb.1	+	1	206	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	PGM2_uc011bya.1_5'UTR|PGM2_uc011byc.1_5'UTR	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	Homo sapiens phosphoglucomutase 2 (PGM2), mRNA.	45					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						AGGTAATAAAGAAGAACTACG	0.418000														61			30		0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33399952	33399952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33399952C>T	uc011dri.2	+	3	505	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	SYNGAP1_uc003oeo.1_Missense_Mutation_p.R89C|SYNGAP1_uc010juy.3_Missense_Mutation_p.R89C	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	104					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCACTTGGGTCGCTCGAGGAG	0.632000														35			16		0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852271	97852271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:97852271C>T	uc011bgt.2	+	0	730	c.730C>T	c.(730-732)Cat>Tat	p.H244Y		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CTGTGGAGCCCATCTCTTCTC	0.408000														127			50		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48288033	48288033	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48288033C>T	uc003toq.2	+	13	1881	c.1857C>T	c.(1855-1857)gtC>gtT	p.V619V	ABCA13_uc010kyr.2_Silent_p.V122V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	619					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACCAGCTTGTCTCCACAGTGT	0.443000														124			65		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72889564	72889564	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:72889564G>A	uc003pga.3	+	4	835	c.758G>A	c.(757-759)gGg>gAg	p.G253E	RIMS1_uc011dyb.2_5'Flank|RIMS1_uc003pgc.3_5'Flank|RIMS1_uc003pgb.4_5'Flank	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	253					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAAGCCTTGGGGCCTGAACAG	0.557000														18			10		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107590	168107590	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:168107590C>T	uc002udx.3	+	8	9777	c.9688C>T	c.(9688-9690)Cgt>Tgt	p.R3230C	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R3055C|XIRP2_uc010fpq.3_Missense_Mutation_p.R3008C|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3055					actin cytoskeleton organization	cell junction	actin binding	p.R3230P(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATAGAAACTCGTGGTAGGGA	0.448000														74			30		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233137405	233137405	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233137405G>A	uc001hvl.2	-	28	5210	c.4975C>T	c.(4975-4977)Ctc>Ttc	p.L1659F	PCNXL2_uc001hvk.1_Missense_Mutation_p.L311F|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1659						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)				AGGACATGGAGGCCATACAGG	0.433000														11			5		0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	239990240	239990240	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:239990240G>A	uc002vyk.4	-	22	3591	c.2799C>T	c.(2797-2799)ttC>ttT	p.F933F	HDAC4_uc010fyy.3_Silent_p.F890F	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	933	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCACGGCATCGAAGCCTGATG	0.597000														67			8		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815940	43815940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43815940G>A	uc001zrt.3	+	3	2736	c.2269G>A	c.(2269-2271)Gat>Aat	p.D757N		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	757						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAGATCCATGATGAGCCGGA	0.562000														28			10		0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42513902	42513902	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:42513902G>A	uc002igw.2	-	3	424	c.205C>T	c.(205-207)Ccc>Tcc	p.P69S	GPATCH8_uc002igv.2_5'UTR|GPATCH8_uc010wiz.2_5'UTR	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	69	G-patch.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATTGGAATGGGATCTGTTCTC	0.403000														31			14		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174649	207174649	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:207174649G>A	uc002vbp.2	+	4	5647	c.5397G>A	c.(5395-5397)agG>agA	p.R1799R		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1799							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTCTGTAAGGAACCTGAAAA	0.408000														53			7		0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32089086	32089086	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32089086G>A	uc003nzn.3	-	5	551	c.518C>T	c.(517-519)tCc>tTc	p.S173F	ATF6B_uc003nzo.3_Missense_Mutation_p.S170F|ATF6B_uc003nzp.1_5'Flank|ATF6B_uc011dpg.2_Missense_Mutation_p.S107F|ATF6B_uc011dph.2_Missense_Mutation_p.S173F	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	173					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						AGAGTTGACGGAAGAACATGG	0.537000														21			9		0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532957	113532957	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113532957C>T	uc001tuk.1	+	6	1833	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	499					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.G498G(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TGCCCGGCTTCCCTGATACCC	0.652000														82			21		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610048	47610048	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47610048G>A	uc001cqv.1	+	6	861	c.810G>A	c.(808-810)agG>agA	p.R270R	CYP4A22_uc009vyo.3_Silent_p.R270R|CYP4A22_uc009vyp.3_Missense_Mutation_p.E219K	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	270						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCAACTGAGGAAGGCTCAAC	0.542000														118			23		0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29368177	29368177	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29368177G>A	uc002rmv.3	+	7	1204	c.965G>A	c.(964-966)gGa>gAa	p.G322E	CLIP4_uc002rmu.3_Missense_Mutation_p.G322E|CLIP4_uc010ezm.1_Missense_Mutation_p.G322E|CLIP4_uc002rmw.3_Non-coding_Transcript|CLIP4_uc010ymn.1_Missense_Mutation_p.G304E	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	322	CAP-Gly 1.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GAACCAGAAGGAAAAAATAAT	0.348000														68			17		0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918200	15918200	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15918200G>A	uc002nbq.2	-	0	737	c.648C>T	c.(646-648)ctC>ctT	p.L216L		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L216P(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CATAGGAGAGGAGGATGAGGA	0.577000														66			21		0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90485726	90485726	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:90485726C>T	uc001xxy.3	+	14	1907	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Silent_p.S536S|TDP1_uc010atn.3_Silent_p.S536S|TDP1_uc001xya.3_Silent_p.S297S|TDP1_uc001xyb.3_Non-coding_Transcript|TDP1_uc001xyd.1_Silent_p.S151S	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	536					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGATCCGCTCCTACGAGCTCG	0.522000								Repair of DNA-protein crosslinks						46			10		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120996131	120996131	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:120996131C>T	uc010rzo.2	+	6	1324	c.1324C>T	c.(1324-1326)Cag>Tag	p.Q442*		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	442	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTTTGATGGCCAGCACTACGC	0.483000														390			91		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23191528	23191528	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:23191528G>A	uc009vqj.1	+	4	1271	c.1126G>A	c.(1126-1128)Ggg>Agg	p.G376R	EPHB2_uc001bge.3_Missense_Mutation_p.G376R|EPHB2_uc001bgf.3_Missense_Mutation_p.G376R|EPHB2_uc010odu.2_Missense_Mutation_p.G376R|MIR4253_uc021oic.1_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	376	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CACCCGCTGCGGGGACAATGT	0.637000														85			39		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54586243	54586243	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54586243G>A	uc021smr.1	+	8	3963	c.3963G>A	c.(3961-3963)atG>atA	p.M1321I	UNC13C_uc021sms.1_Missense_Mutation_p.M1323I|UNC13C_uc002acl.3_Missense_Mutation_p.M153I	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1323					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G1321*(1)		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)		GTGGAGAAATGGATGTCTGGT	0.343000														228			19		0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847058	7847058	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7847058C>T	uc010rbg.2	-	0	462	c.462G>A	c.(460-462)gtG>gtA	p.V154V		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCAAGCATTCACACATCCAC	0.473000														70			36		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265791	10265791	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10265791G>A	uc002gmk.1	-	3	324	c.234C>T	c.(232-234)ttC>ttT	p.F78F		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	78	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGTTCATGGGGAAGACCTGGT	0.483000														83			47		0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6529206	6529206	+	Silent	SNP	C	T	T	rs79066520	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6529206C>T	uc001anp.1	-	19	2874	c.2376G>A	c.(2374-2376)gaG>gaA	p.E792E	PLEKHG5_uc001ann.1_Silent_p.E752E|PLEKHG5_uc001ano.1_Silent_p.E771E|PLEKHG5_uc001anq.1_Silent_p.E792E|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Silent_p.E276E|PLEKHG5_uc009vma.1_Silent_p.E555E|PLEKHG5_uc010nzr.1_Silent_p.E784E|PLEKHG5_uc001ank.1_Silent_p.E715E|PLEKHG5_uc009vmb.1_Silent_p.E715E|PLEKHG5_uc001anl.1_Silent_p.E715E|PLEKHG5_uc001anm.1_Silent_p.E715E	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	771					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		cctcctcctcctcttcctcct	0.637000														72			17		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559002	140559002	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140559002G>A	uc011dai.2	+	0	1632	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	463	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R462R(1)|p.R462P(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGTCCGCGAGAACAACAG	0.627000														323			85		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52603784	52603784	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:52603784G>A	uc001jjj.3	-	3	386	c.198C>T	c.(196-198)gaC>gaT	p.D66D	A1CF_uc010qho.2_Silent_p.D74D|A1CF_uc010qhn.2_Silent_p.D74D|A1CF_uc009xov.3_Silent_p.D66D|A1CF_uc001jji.3_Silent_p.D66D|A1CF_uc001jjh.3_Silent_p.D74D|A1CF_uc001jjk.1_Silent_p.D66D	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	66	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCTCAAAAAGGTCTCGGGGAA	0.393000														155			46		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668167	53668167	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53668167G>A	uc010eqm.1	-	3	1676	c.1576C>T	c.(1576-1578)Cat>Tat	p.H526Y		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AGGCTTGAATGAACACTAAAG	0.388000														127			44		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149227972	149227972	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:149227972C>T	uc002twm.4	+	8	3457	c.2460C>T	c.(2458-2460)tcC>tcT	p.S820S	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_Silent_p.S261S	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	820						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAACGTCCTCCACTCCAGTGA	0.428000														90			27		0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30381660	30381660	+	Missense_Mutation	SNP	G	A	A	rs61754553	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30381660G>A	uc002wwp.1	+	13	2217	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	TPX2_uc010gdv.1_Missense_Mutation_p.E543K	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	507					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GGAAGAGGACGAACCGGTAGT	0.433000														214			87		0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48953984	48953984	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:48953984C>T	uc002pjd.2	+	4	977	c.744C>T	c.(742-744)ggC>ggT	p.G248G		NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	Homo sapiens glutamate-rich WD repeat containing 1 (GRWD1), mRNA.	248						nucleolus		p.G247F(1)|p.G247V(1)|p.G247C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		CGGACGGCGGCTCCTGGCACG	0.637000														25			12		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990456	47990456	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:47990456G>A	uc002xur.1	-	1	1807	c.1641C>T	c.(1639-1641)acC>acT	p.T547T	KCNB1_uc002xus.1_Silent_p.T547T	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	547					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGACTCCTTGGTATTGAGGA	0.517000														195			75		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71747977	71747977	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71747977G>A	uc010fen.3	+	11	1233	c.1092G>A	c.(1090-1092)ggG>ggA	p.G364G	DYSF_uc010fei.3_Silent_p.G363G|DYSF_uc010feh.3_Silent_p.G332G|DYSF_uc002sig.4_Silent_p.G332G|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.G363G|DYSF_uc010fee.3_Silent_p.G332G|DYSF_uc010fef.3_Silent_p.G363G|DYSF_uc002sie.3_Silent_p.G332G|DYSF_uc010feo.3_Silent_p.G364G|DYSF_uc010fej.3_Silent_p.G333G|DYSF_uc010fel.3_Silent_p.G333G|DYSF_uc010fem.3_Silent_p.G333G|DYSF_uc002sif.3_Silent_p.G333G|DYSF_uc010fek.3_Silent_p.G364G	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	332						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCTCTGCTGGGGCCAGAGGCT	0.572000														92			27		0	0	1	0	0
SPP2	6694	broad.mit.edu	37	2	234975199	234975199	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234975199G>A	uc002vvk.1	+	4	552	c.467G>A	c.(466-468)gGa>gAa	p.G156E	SPP2_uc010fyl.1_Missense_Mutation_p.G76E	NM_006944	NP_008875	Q13103	SPP24_HUMAN	Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.	156					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	p.L155F(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GACATGTTGGGATCTCATAAA	0.308000														105			42		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107408046	107408046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107408046C>T	uc003ver.2	-	19	2460	c.2249G>A	c.(2248-2250)gGa>gAa	p.G750E	SLC26A3_uc003ves.2_Missense_Mutation_p.G637E	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	750					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATTACGTAATCCTCCATTTGT	0.333000														26			13		0	0	1	0	0
RRP9	9136	broad.mit.edu	37	3	51969369	51969369	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:51969369G>A	uc003dbw.1	-	9	999	c.960C>T	c.(958-960)ttC>ttT	p.F320F		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	320					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		GGTGGCCATAGAAGACAAGCT	0.652000														26			15		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400585	89400585	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89400585C>T	uc010upo.1	+	11	5143	c.4769C>T	c.(4768-4770)cCt>cTt	p.P1590L	ACAN_uc010upp.1_Missense_Mutation_p.P1590L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1590					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)			AGTGGGTTGCCTTCTGGAAAA	0.532000														154			15		0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203630246	203630246	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:203630246C>T	uc010zhx.2	+	7	1539	c.1529C>T	c.(1528-1530)tCt>tTt	p.S510F		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	510										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						AAAAGTGGATCTGCTTTCTGC	0.483000														159			37		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5798909	5798909	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5798909C>T	uc010qzn.2	-	0	989	c.956G>A	c.(955-957)gGt>gAt	p.G319D	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACCCTTATCACCCTGGAAGAA	0.343000														25			40		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140756085	140756085	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140756085T>A	uc011dau.2	+	0	2435	c.2435T>A	c.(2434-2436)tTt>tAt	p.F812Y	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron	NM_032086	NP_114475	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 2, mRNA.	0					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)			GTGAGTTTCTTTCCGCCTAAG	0.463000														39			12		0	0	1	0	0
RFC3	5983	broad.mit.edu	37	13	34409298	34409298	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:34409298C>T	uc001uuz.3	+	7	933	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	RFC3_uc001uva.3_Missense_Mutation_p.R275C|RFC3_uc010ted.1_Missense_Mutation_p.R275C	NM_002915	NP_002906	P40938	RFC3_HUMAN	Homo sapiens replication factor C (activator 1) 3, 38kDa (RFC3), transcript variant 1, mRNA.	275					DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|response to organophosphorus|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		CCTTGAAGTTCGTGGAAGGCT	0.313000														76			13		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919520	4919520	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4919520C>T	uc001qng.3	+	0	1179	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	KCNA6_uc021qtr.1_Missense_Mutation_p.R105C	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	105						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GTCTGGGGGCCGCCTGCGGAG	0.657000										HNSCC(72;0.22)				68			45		0	0	1	0	0
SPACA1	81833	broad.mit.edu	37	6	88757792	88757792	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:88757792G>A	uc003pmn.3	+	0	286	c.169G>A	c.(169-171)Gag>Aag	p.E57K		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	57						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		CAACGACAGCGAGACCGCGGA	0.692000														3			8		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44932910	44932910	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44932910C>T	uc002oze.1	-	5	2480	c.2046G>A	c.(2044-2046)aaG>aaA	p.K682K	ZNF229_uc010ejk.1_Silent_p.K336K|ZNF229_uc010ejl.1_Silent_p.K676K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	682					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ACGTATAGGGCTTTTTTCCCG	0.502000														117			47		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23716293	23716293	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23716293G>A	uc002dma.4	-	7	1078	c.909C>T	c.(907-909)ttC>ttT	p.F303F	ERN2_uc010bxp.3_Silent_p.F303F|ERN2_uc010bxq.1_Silent_p.F111F	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	255					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GGAGGGCGAGGAAATGCAGAG	0.662000														66			15		0	0	1	0	0
MYL3	4634	broad.mit.edu	37	3	46899877	46899877	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46899877C>T	uc003cql.1	-	4	649	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K		NM_000258	NP_000249	P08590	MYL3_HUMAN	Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA.	186	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|I band|cytosol|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		AGCCCACCTTCATAGTTGATG	0.602000														62			15		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37536457	37536457	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:37536457G>A	uc002xje.3	+	8	1096	c.907G>A	c.(907-909)Gag>Aag	p.E303K	PPP1R16B_uc010ggc.3_Missense_Mutation_p.E261K	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	303					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGACCTGTGCGAGGAGGAAGA	0.592000														58			32		0	0	1	0	0
F2RL3	9002	broad.mit.edu	37	19	17001309	17001309	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17001309C>T	uc002nfa.3	+	1	1210	c.1035C>T	c.(1033-1035)gcC>gcT	p.A345A		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.	345					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ACGTGTCGGCCGAGTTCAGGG	0.672000														31			6		0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34863731	34863731	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:34863731G>A	uc010wcy.2	-	15	2256	c.1264C>T	c.(1264-1266)Cct>Tct	p.P422S	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.P422S|MYO19_uc010wcz.1_Non-coding_Transcript	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	422	Myosin head-like.					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTGTTGTCAGGAAATGATTCA	0.537000														28			7		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119583407	119583407	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:119583407G>A	uc001txa.2	+	8	1381	c.993G>A	c.(991-993)ggG>ggA	p.G331G		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	331	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding	p.G331fs*37(3)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CTGATTCAGGGAACTCCTTCA	0.612000														20			4		0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44470696	44470696	+	Missense_Mutation	SNP	C	T	T	rs150319141	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44470696C>T	uc002oxx.2	+	5	1370	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	ZNF221_uc010ejb.1_Missense_Mutation_p.R348C|ZNF221_uc010xws.1_Missense_Mutation_p.R348C	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	Homo sapiens zinc finger protein 221 (ZNF221), mRNA.	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CAAGAACTTTCGTCAGAGATC	0.408000														190			37		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119942902	119942902	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:119942902G>A	uc001txe.3	+	6	1142	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	226										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCCACAATGCGAGTCACCAAC	0.517000														116			30		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933907	44933907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44933907C>T	uc002oze.1	-	5	1483	c.1049G>A	c.(1048-1050)aGa>aAa	p.R350K	ZNF229_uc010ejk.1_Missense_Mutation_p.R4K|ZNF229_uc010ejl.1_Missense_Mutation_p.R344K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GACATCACATCTATAGGGCAT	0.507000														124			12		0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48073536	48073536	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:48073536C>T	uc003gxx.4	-	13	1599	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	TXK_uc010igj.3_Non-coding_Transcript|TXK_uc011bzj.2_Missense_Mutation_p.E192K	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	505	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						ATGCTTACCTCATGCCAGCAG	0.453000														98			56		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133150166	133150166	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133150166C>T	uc003ytj.3	-	11	1891	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N	KCNQ3_uc003yti.3_Missense_Mutation_p.D436N|KCNQ3_uc010mdt.3_Missense_Mutation_p.D556N	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	556					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.L555L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GAAAGCATGTCGAGATGCCCG	0.453000														104			20		0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54429267	54429267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:54429267G>A	uc003jpo.2	-	5	847	c.670C>T	c.(670-672)Cat>Tat	p.H224Y	CDC20B_uc003jpn.2_Missense_Mutation_p.H224Y|CDC20B_uc010ivu.2_Missense_Mutation_p.H224Y|CDC20B_uc010ivv.2_Missense_Mutation_p.H224Y	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	224										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CCAGTAATATGAATCTTCACC	0.363000														109			31		0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5489039	5489039	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:5489039G>A	uc002kmt.1	-	1	230	c.144C>T	c.(142-144)ttC>ttT	p.F48F	EPB41L3_uc010wzh.1_Silent_p.F48F|EPB41L3_uc002kmu.1_Silent_p.F48F|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Silent_p.F70F|EPB41L3_uc002kmv.1_5'UTR	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	48					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CAGCGGCGGCGAACTGCTCCA	0.721000														30			10		0	0	1	0	0
ANP32AP1	723972	broad.mit.edu	37	15	35529621	35529621	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:35529621G>A	uc001ziy.3	+	0		c.95G>A								Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1 (ANP32AP1), non-coding RNA.																		TCGAATGAAGGCAAACTCGAA	0.473000														143			63		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24433686	24433686	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24433686C>T	uc001bin.4	-	3	442	c.279G>A	c.(277-279)gaG>gaA	p.E93E	MYOM3_uc001bio.3_Silent_p.E93E|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	93										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCTCCTCCAGCTCCACGGCAG	0.687000														14			4		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16282772	16282772	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:16282772C>T	uc002den.4	-	12	1732	c.1695G>A	c.(1693-1695)gaG>gaA	p.E565E	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Silent_p.E577E	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	565	ABC transmembrane type-1 1.				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)		CAAAGGCTTTCTCTGCATTCA	0.582000														46			17		0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44468071	44468071	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44468071G>A	uc001cll.3	-	7	1287	c.1095C>T	c.(1093-1095)gcC>gcT	p.A365A	SLC6A9_uc009vxe.2_Silent_p.A221A|SLC6A9_uc010okm.1_Silent_p.A292A|SLC6A9_uc001clm.3_Silent_p.A311A|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.A296A|SLC6A9_uc010oko.2_Silent_p.A181A|SLC6A9_uc001cln.3_Silent_p.A292A|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	365						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AGATCTGGGAGGCAGCATCAC	0.627000														98			14		0	0	1	0	0
TCR-_alpha_V_33.1	0	broad.mit.edu	37	14	22783078	22783078	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22783078G>A	uc001wdq.2	+	2	81	c.74_splice	c.e2-1	p.G25_splice	TCRA_uc001wbw.2_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_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 40, partial cds, clone: un 107.																		CCCCCTACAGGAGGAACCAGC	0.408000														24			19		0	0	1	0	0
PBX4	80714	broad.mit.edu	37	19	19681534	19681534	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19681534C>T	uc002nmy.3	-	2	589	c.302G>A	c.(301-303)aGa>aAa	p.R101K	PBX4_uc010xra.2_5'UTR|PBX4_uc010xqz.2_Non-coding_Transcript	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 4 (PBX4), transcript variant 1, mRNA.	101							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CGCTCCTCCTCTTCCTCTCTT	0.597000														70			26		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23792369	23792369	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:23792369C>T	uc003sws.4	+	8	1118	c.1051C>T	c.(1051-1053)Cac>Tac	p.H351Y	STK31_uc003swt.4_Missense_Mutation_p.H328Y|STK31_uc011jze.2_Missense_Mutation_p.H351Y|STK31_uc010kuq.3_Missense_Mutation_p.H328Y	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	351							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTGACTAACCACTTAGAATA	0.353000														58			18		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52927008	52927008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:52927008C>T	uc003gzl.3	+	2	532	c.254C>T	c.(253-255)tCc>tTc	p.S85F	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.S85F|SPATA18_uc003gzk.1_Missense_Mutation_p.S85F	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	85					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CTGGAGGCTTCCTTTACTGCT	0.478000														56			29		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20782849	20782849	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:20782849C>T	uc001reh.2	+	5	1588	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L	PDE3A_uc021qwa.1_Silent_p.L194L	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	516					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CAGGTGCCCTCGCTAAAATTT	0.438000														85			33		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612290	16612290	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:16612290G>A	uc002gqk.1	+	4	995	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	CCDC144A_uc002gql.1_Intron|CCDC144A_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	307																	TGAAATTTATGAAAAATACAA	0.338000														38			22		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43594369	43594369	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:43594369G>A	uc003tid.1	+	28	5294	c.4689G>A	c.(4687-4689)ggG>ggA	p.G1563G	HECW1_uc011kbi.1_Silent_p.G1529G	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1563	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.G1542G(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGAAATGGGGGAAAATTACTT	0.527000														24			4		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38485983	38485983	+	Missense_Mutation	SNP	C	T	T	rs143995164		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38485983C>T	uc010ive.1	-	16	2767	c.2435G>A	c.(2434-2436)cGa>cAa	p.R812Q	LIFR_uc003jli.2_Missense_Mutation_p.R812Q	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	812	Fibronectin type-III 6.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.R812Q(3)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGTATAGGCTCGCAAGACCAG	0.433000			T	PLAG1	salivary adenoma									63			21		0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113803686	113803686	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113803686G>A	uc001pok.3	+	5	705	c.567G>A	c.(565-567)agG>agA	p.R189R	HTR3B_uc001pol.3_Silent_p.R178R	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	189					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	p.L188L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CCTTTCTGAGGAGCCCAGAAG	0.483000														48			21		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69665943	69665943	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:69665943C>T	uc010kak.3	+	5	1499	c.1223C>T	c.(1222-1224)tCg>tTg	p.S408L	BAI3_uc003pev.4_Missense_Mutation_p.S408L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	408	TSP type-1 3.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S407N(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGTGGAGTTCGTGGAGCCAG	0.527000														30			13		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111158883	111158883	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:111158883G>A	uc001vqx.3	+	45	4813	c.4524G>A	c.(4522-4524)atG>atA	p.M1508I		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1508	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGTGGGCATGAACAAACTCT	0.657000														15			12		0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5730807	5730807	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5730807C>T	uc001mbr.3	+	7	1805	c.1426C>T	c.(1426-1428)Cga>Tga	p.R476*	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Nonsense_Mutation_p.R304*|TRIM22_uc009yes.3_Nonsense_Mutation_p.R472*|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	476	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCGCTTTTCTCGACCTGCTTA	0.473000														176			53		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768823	57768823	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:57768823C>T	uc002yan.3	+	0	2749	c.2749C>T	c.(2749-2751)Ccc>Tcc	p.P917S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	917						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGCAGAGCACCCCTCGCTGGC	0.632000														46			22		0	0	1	0	0
GPR1	2825	broad.mit.edu	37	2	207041526	207041526	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:207041526C>T	uc021vvl.1	-	0	446	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	GPR1_uc002vbl.4_Missense_Mutation_p.R149Q|GPR1_uc010fue.3_Missense_Mutation_p.R149Q|GPR1_uc010fuf.3_Missense_Mutation_p.R149Q	NM_005279	NP_005270	P46091	GPR1_HUMAN	Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.	149						integral to plasma membrane	G-protein coupled receptor activity	p.H148Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CTTGAGGGTTCGATGCCGATG	0.463000														86			35		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323636	79323636	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:79323636A>T	uc010mpk.3	-	7	3678	c.3554T>A	c.(3553-3555)gTa>gAa	p.V1185E	PRUNE2_uc022bih.1_Missense_Mutation_p.V1007E	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1185					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCCCAATCTACCTGATTTGC	0.498000														68			19		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1268709	1268709	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1268709G>T	uc003jcb.1	-	8	2566	c.2508C>A	c.(2506-2508)atC>atA	p.I836I	TERT_uc003jbz.1_Silent_p.I32I|TERT_uc003jcc.1_Silent_p.I836I|TERT_uc003jca.1_Silent_p.I824I|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_5'UTR	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	836	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCGTGGAGAGGATGGAGCCCT	0.652000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					41			12		0.00316338	0.00316527	1	1	0
MTMR11	10903	broad.mit.edu	37	1	149906993	149906993	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:149906993G>A	uc001etl.4	-	4	605	c.354C>T	c.(352-354)ctC>ctT	p.L118L	MTMR11_uc001etm.2_Silent_p.L46L|MTMR11_uc010pbm.1_Silent_p.L90L|MTMR11_uc010pbn.1_5'UTR	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	118							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ACCCTGGACGGAGGAGCTGGA	0.547000														87			28		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48370707	48370707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48370707G>A	uc001jex.3	+	1	337	c.175G>A	c.(175-177)Gag>Aag	p.E59K	ZNF488_uc021ppx.1_Missense_Mutation_p.E59K	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CCTGGGCCCTGAGGCTGCTGT	0.677000														45			22		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94481369	94481369	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94481369G>A	uc001dqh.3	-	36	5342	c.5238C>T	c.(5236-5238)ttC>ttT	p.F1746F	ABCA4_uc009wdp.1_Silent_p.F14F	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1746					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)		GAAACCCGATGAAGATGCCCA	0.517000														27			6		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2716282	2716283	+	Missense_Mutation	DNP	CG	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2716282_2716283CG>TA	uc009zdu.1	+	26	3715_3716	c.3402_3403CG>TA	c.(3400-3405)ttcgaa>ttTAaa	p.E1135K	CACNA1C_uc001qkc.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qke.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E1115K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E1115K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E1135K|CACNA1C_uc001qkj.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkk.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkm.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qko.2_Missense_Mutation_p.E1135K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qku.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qks.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E1115K|CACNA1C_uc009zdv.1_Missense_Mutation_p.E1112K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qka.1_Missense_Mutation_p.E650K|CACNA1C_uc001qki.1_Missense_Mutation_p.E851K	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1135	Dihydropyridine binding (By similarity).	Calcium ion selectivity and permeability.			axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCTCCACCTTCGAAGGGTGGCC	0.540000														18			6		0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54606840	54606840	+	Missense_Mutation	SNP	C	T	T	rs141787724		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:54606840C>T	uc001cwv.1	-	2	1542	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	232	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						ACCTGCAGTTCGTGGCCCAGA	0.637000														61			18		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719833	50719833	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50719833G>A	uc003bkv.4	-	21	3711	c.3618C>T	c.(3616-3618)atC>atT	p.I1206I	PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Silent_p.I191I	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1206					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCATGGGCACGATGACCAGCG	0.677000														19			6		0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54326282	54326282	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:54326282C>T	uc003jpl.1	+	2	277	c.233C>T	c.(232-234)cCc>cTc	p.P78L		NM_002104	NP_002095	P49863	GRAK_HUMAN	Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.	78	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GGCCAGTCTCCCACTGTGGTT	0.438000														110			36		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75708675	75708675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75708675C>T	uc010oqz.1	-	6	550	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	SLC44A5_uc001dgt.2_Missense_Mutation_p.E123K|SLC44A5_uc001dgs.2_Missense_Mutation_p.E81K|SLC44A5_uc001dgr.2_Missense_Mutation_p.E81K|SLC44A5_uc001dgu.3_Missense_Mutation_p.E123K|SLC44A5_uc010ora.2_Missense_Mutation_p.E117K|SLC44A5_uc010orb.2_5'UTR	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	123						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AAAAATTTTTCTGGGCACTTG	0.398000														106			7		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211541795	211541795	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:211541795C>T	uc010fur.3	+	37	4439	c.4357C>T	c.(4357-4359)Cat>Tat	p.H1453Y	CPS1_uc002vee.4_Missense_Mutation_p.H1447Y|CPS1_uc010fus.3_Missense_Mutation_p.H996Y	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1447			R -> Q (in CPS1D; the enzyme is inactive).|R -> W (in CPS1D; the enzyme is inactive).		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.R1453Q(1)|p.H1447D(1)|p.H1453D(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)		TAAATTTGTCCATGATAATTA	0.378000														148			37		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196295998	196295998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:196295998C>T	uc001gtd.1	-	18	2185	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	KCNT2_uc009wyt.1_Intron|KCNT2_uc001gte.1_Missense_Mutation_p.E659K|KCNT2_uc001gtf.1_Missense_Mutation_p.E709K|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.E709K|KCNT2_uc001gth.1_Missense_Mutation_p.E230K	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	709						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTGCATCCTCATAGTAGTTA	0.318000														102			42		0	0	1	0	0
CCDC77	84318	broad.mit.edu	37	12	550076	550076	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:550076C>T	uc001qig.3	+	11	1414	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	CCDC77_uc009zdk.3_Nonsense_Mutation_p.R380*|CCDC77_uc010sdp.2_Nonsense_Mutation_p.R380*|CCDC77_uc010sdq.2_Nonsense_Mutation_p.R380*	NM_032358	NP_001123620	Q9BR77	CCD77_HUMAN	Homo sapiens coiled-coil domain containing 77 (CCDC77), transcript variant 1, mRNA.	412						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			ATTGGAGCGTCGACGTATCCT	0.428000														57			15		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922993	24922993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24922993C>T	uc001ywo.3	+	0	2453	c.1979C>T	c.(1978-1980)tCt>tTt	p.S660F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	660					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)		CAGAAAGCTTCTCTCCCCAGT	0.498000														160			22		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961963	34961963	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:34961963C>T	uc004ddi.2	+	0	1051	c.1015C>T	c.(1015-1017)Cat>Tat	p.H339Y		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	339								p.T338S(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCCCAACACTCATCGGGTGTC	0.587000														16			35		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65252522	65252522	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:65252522C>T	uc001xht.3	-	15	3760	c.3709G>A	c.(3709-3711)Gag>Aag	p.E1237K	SPTB_uc001xhr.3_Missense_Mutation_p.E1237K|SPTB_uc001xhs.3_Missense_Mutation_p.E1237K|SPTB_uc001xhu.3_Missense_Mutation_p.E1237K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1237					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGGTTTCCCTCAGCTACCAGC	0.562000														286			16		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878113	24878113	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24878113C>T	uc001wpf.4	+	3	1431	c.1113C>T	c.(1111-1113)atC>atT	p.I371I		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	371					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCTGGAGGATCAATGAGCTGC	0.607000														12			12		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123848336	123848336	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123848336C>T	uc001pzm.1	-	0	63	c.63G>A	c.(61-63)gtG>gtA	p.V21V		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGTGGCTCACCACAGTCTGGT	0.488000														76			31		0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231222521	231222521	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:231222521C>T	uc010fxm.1	+	3	199	c.108_splice	c.e3-1	p.R36_splice	SP140_uc010zma.1_Splice_Site|SP140L_uc010fxn.2_Splice_Site	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	36	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TTTCCTTAGGCTGTTCACGGA	0.373000														182			53		0	0	1	0	0
ADAD2	161931	broad.mit.edu	37	16	84224922	84224922	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84224922C>T	uc002fhq.2	+	0	200	c.86C>T	c.(85-87)cCc>cTc	p.P29L	ADAD2_uc002fhr.2_Missense_Mutation_p.P29L	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	29					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGCCCCCAGCCCCGCCCCTGG	0.736000														9			7		0	0	1	0	0
SNX8	29886	broad.mit.edu	37	7	2317866	2317866	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:2317866G>A	uc003slw.3	-	1	212	c.169C>T	c.(169-171)Ccg>Tcg	p.P57S		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	Homo sapiens sorting nexin 8 (SNX8), mRNA.	57					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		TTCCCCTGCGGCATCTGCATT	0.652000														45			20		0	0	1	0	0
HMGCR	3156	broad.mit.edu	37	5	74655281	74655281	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:74655281C>T	uc011cst.2	+	17	2669	c.2417C>T	c.(2416-2418)cCc>cTc	p.P806L	HMGCR_uc003kdp.3_Missense_Mutation_p.P786L|HMGCR_uc003kdq.3_Missense_Mutation_p.P733L|HMGCR_uc010izo.3_Intron|HMGCR_uc010izp.3_Intron	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	786	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GCAAGTGGTCCCACAAATGAA	0.403000														74			11		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102992208	102992208	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102992208C>T	uc001phn.1	+	9	1612	c.1468C>T	c.(1468-1470)Cgc>Tgc	p.R490C	DYNC2H1_uc009yxe.1_Missense_Mutation_p.R490C|DYNC2H1_uc001pho.2_Missense_Mutation_p.R490C	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	490	Stem (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)		AGTTTGGGTTCGCCAGTTGGA	0.368000														61			22		0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63488441	63488441	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:63488441C>G	uc004dvs.3	-	13	2181	c.2091G>C	c.(2089-2091)gaG>gaC	p.E697D	MTMR8_uc011mou.2_Intron	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	697						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGTAGTCTGCCTCCTTGGTGC	0.522000														19			23		0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204043	9204043	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9204043G>A	uc010xkj.2	+	0	123	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGGTCGTGGGGAACCTGCTCA	0.537000														100			37		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897586	36897586	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36897586G>A	uc003cgj.3	-	11	3743	c.3495C>T	c.(3493-3495)ttC>ttT	p.F1165F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1165					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAAGCTCAATGAAATTCCTTT	0.483000														117			54		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91348352	91348352	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:91348352G>A	uc001tbj.3	-	0	602	c.168C>T	c.(166-168)ccC>ccT	p.P56P		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	56										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						ACTCGGTCTTGGGGCTATATC	0.642000														28			10		0	0	1	0	0
PIP	5304	broad.mit.edu	37	7	142836687	142836687	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142836687C>T	uc003wcf.1	+	3	429	c.393C>T	c.(391-393)ccC>ccT	p.P131P		NM_002652	NP_002643	P12273	PIP_HUMAN	Homo sapiens prolactin-induced protein (PIP), mRNA.	131						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CTGTAATCCCCATCAAAAACA	0.438000														187			66		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473712	19473712	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:19473712C>T	uc003jgd.3	-	12	2530	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.E666K|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	666					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTGTGTCTTCCTCTCCGCCT	0.507000														145			51		0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30432527	30432527	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30432527G>A	uc002wwt.1	-	0	894	c.819C>T	c.(817-819)gcC>gcT	p.A273A		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	273					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA 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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CAGGGGAGGGGGCTGCTGAGG	0.652000														16			9		0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54373514	54373514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	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														81			30		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082977	9082977	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9082977C>T	uc002mkp.3	-	0	9042	c.8838G>A	c.(8836-8838)aaG>aaA	p.K2946K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2947	Ser-rich.|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						CACTTATGGCCTTTGTGGAAG	0.498000														66			24		0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7374329	7374329	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7374329C>T	uc003mxl.2	-	4	1254	c.723G>A	c.(721-723)ggG>ggA	p.G241G	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Silent_p.G105G|CAGE1_uc003mxj.3_5'UTR|CAGE1_uc003mxk.2_Silent_p.G241G	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	241										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CAGGAATCTCCCCATAATTCT	0.398000														125			33		0	0	1	0	0
DHRS2	10202	broad.mit.edu	37	14	24108541	24108541	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24108541G>A	uc001wkt.4	+	2	741	c.294G>A	c.(292-294)gaG>gaA	p.E98E	DHRS2_uc010aku.1_Silent_p.E98E|DHRS2_uc001wku.4_Silent_p.E98E|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	76					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GGAAGGCTGAGGACCGGGAGC	0.652000														37			11		0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76089072	76089072	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76089072C>T	uc002jud.2	+	15	4629	c.4029C>T	c.(4027-4029)tcC>tcT	p.S1343S	TNRC6C_uc002juf.2_Silent_p.S1340S	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1343					gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TTGATGACTCCTATGGCCGGT	0.498000														36			13		0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784745	30784745	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30784745G>A	uc002wxn.2	-	2	1218	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	334						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S333C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTGAGCTGGGGAAGAGATAGG	0.557000														143			14		0	0	1	0	0
APBB3	10307	broad.mit.edu	37	5	139942061	139942061	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:139942061G>A	uc021yeh.1	-	4	734	c.375C>T	c.(373-375)ggC>ggT	p.G125G	APBB3_uc003lgb.1_5'UTR|APBB3_uc003lgc.1_5'UTR|APBB3_uc003lgd.1_Silent_p.G125G|APBB3_uc010jfp.1_Non-coding_Transcript|APBB3_uc011czi.1_5'UTR|APBB3_uc003lge.1_Silent_p.G125G|APBB3_uc021yeg.1_Silent_p.G125G|APBB3_uc003lgf.1_Non-coding_Transcript|APBB3_uc010jfq.1_5'Flank|SLC35A4_uc003lgg.1_5'Flank|SLC35A4_uc003lgh.1_5'Flank	NM_133173	NP_573419	O95704	APBB3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 3 (APBB3), transcript variant 2, mRNA.	125	PID 1.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTACCCAGCCCAGAGAGC	0.572000														203			70		0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499524	75499524	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:75499524C>T	uc002azp.4	+	1	1455	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	C15orf39_uc002azq.4_Missense_Mutation_p.P379S|C15orf39_uc021sqm.1_Missense_Mutation_p.P138S|C15orf39_uc002azr.4_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	379										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						ACTGAGTTTTCCTTATGCCCG	0.627000														184			150		0	0	1	0	0
LRRC33	375387	broad.mit.edu	37	3	196388524	196388524	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:196388524C>T	uc003fwv.3	+	2	2114	c.2010C>T	c.(2008-2010)atC>atT	p.I670I		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	670						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GCACTGTCATCGTCCTCACTT	0.597000														78			45		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112020521	112020521	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:112020521G>A	uc004bdz.1	-	6	983	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	EPB41L4B_uc004bea.3_Missense_Mutation_p.R230W	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	230	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAATGAACCGAAACTCAGAC	0.443000														65			12		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28971156	28971156	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28971156C>T	uc002kwr.2	+	6	935	c.800C>T	c.(799-801)cCc>cTc	p.P267L	DSG4_uc002kwq.2_Missense_Mutation_p.P267L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	267	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GATAATTTCCCCACCTTAGAG	0.398000														81			20		0	0	1	0	0
CDC34	997	broad.mit.edu	37	19	532077	532078	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:532077_532078CC>TT	uc002lov.3	+	0	345_346	c.146_147CC>TT	c.(145-147)ccc>cTT	p.P49L		NM_004359	NP_004350	P49427	UB2R1_HUMAN	Homo sapiens cell division cycle 34 homolog (S. cerevisiae) (CDC34), mRNA.	49					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TTCGGGCCCCCCAACACCTACT	0.683000														12			3		0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127253129	127253129	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:127253129C>T	uc010lld.1	-	5	844	c.638G>A	c.(637-639)aGa>aAa	p.R213K	PAX4_uc003vmf.2_Missense_Mutation_p.R211K|PAX4_uc003vmg.1_Missense_Mutation_p.R213K|PAX4_uc003vmh.3_Missense_Mutation_p.R211K	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	221					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TTTGGCTCTTCTGTTGGAAAA	0.527000														61			12		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119441727	119441727	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:119441727C>T	uc001ehl.1	-	6	945	c.630G>A	c.(628-630)atG>atA	p.M210I	TBX15_uc009whj.1_Missense_Mutation_p.M1I	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	316						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CATATGTCTCCATGATGGCTT	0.468000														44			18		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53242382	53242382	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53242382C>T	uc001sbc.1	-	0	397	c.333G>A	c.(331-333)gaG>gaA	p.E111E		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	111	Coil 1A.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TCTCCTGGGTCTCCTGCGTCC	0.567000														67			9		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140434525	140434525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:140434525G>A	uc003vwc.4	-	17	2234	c.2173C>T	c.(2173-2175)Cac>Tac	p.H725Y		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	725					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		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)	GCACTGCGGTGAATTTTTGGC	0.393000		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					143			57		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23410745	23410745	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:23410745C>T	uc004dal.4	+	2	1118	c.1110C>T	c.(1108-1110)gaC>gaT	p.D370D		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	370	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TCTATGCAGACTCCATGCTCT	0.468000														42			17		0	0	1	0	0
GNL3L	54552	broad.mit.edu	37	X	54578136	54578136	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:54578136C>T	uc022bxi.1	+	10	1255	c.999C>T	c.(997-999)acC>acT	p.T333T	GNL3L_uc004dti.3_Non-coding_Transcript|GNL3L_uc004dth.2_Silent_p.T333T	NM_001184819	NP_061940	Q9NVN8	GNL3L_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar)-like (GNL3L), transcript variant 1, mRNA.	333					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCCTGTGACCCCAGTGGAGA	0.627000														33			6		0	0	1	0	0
PATZ1	23598	broad.mit.edu	37	22	31740842	31740842	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31740842G>A	uc003akq.3	-	0	1408	c.747C>T	c.(745-747)tcC>tcT	p.S249S	PATZ1_uc003akp.3_Silent_p.S249S|PATZ1_uc003akr.3_Silent_p.S249S|PATZ1_uc003aks.3_Silent_p.S249S|Em:AC005003.4_uc003akt.3_5'Flank	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	Homo sapiens POZ (BTB) and AT hook containing zinc finger 1 (PATZ1), transcript variant 1, mRNA.	249					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						TGGGGAATGGGGAAGTCAGCA	0.642000														35			4		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8637897	8637897	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:8637897C>T	uc002wnb.3	+	7	664	c.661C>T	c.(661-663)Cct>Tct	p.P221S	PLCB1_uc010zrb.1_Missense_Mutation_p.P120S|PLCB1_uc002wna.3_Missense_Mutation_p.P221S|PLCB1_uc002wnc.1_Missense_Mutation_p.P120S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	221				P -> L (in Ref. 2; AAF86613).	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						CAACCTTTGCCCTCGACCTGA	0.393000														131			15		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041375	234041375	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:234041375G>A	uc001hvy.1	+	1	299	c.154G>A	c.(154-156)Gag>Aag	p.E52K		NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GGCGATTAAGGAGGATCTGAA	0.632000														74			24		0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113637901	113637901	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113637901G>A	uc011lwo.2	-	2	900	c.898C>T	c.(898-900)Ctt>Ttt	p.L300F	LPAR1_uc004bfa.3_Missense_Mutation_p.L299F|LPAR1_uc011lwm.2_Missense_Mutation_p.L300F|LPAR1_uc004bfc.3_Missense_Mutation_p.L299F|LPAR1_uc011lwn.2_Missense_Mutation_p.L281F|LPAR1_uc004bfb.3_Missense_Mutation_p.L299F|LPAR1_uc010mub.3_Missense_Mutation_p.L299F	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	299					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AATTCAGCAAGGAGAAGGAAG	0.502000														87			38		0	0	1	0	0
UBE2U	148581	broad.mit.edu	37	1	64671346	64671346	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:64671346G>A	uc001dbn.1	+	1	335	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2U (putative) (UBE2U), mRNA.	31							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						GCCTGTAAGTGAAGATATGAT	0.289000														72			29		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190129977	190129977	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:190129977G>A	uc001gse.1	-	6	1237	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	FAM5C_uc010pot.1_Silent_p.F233F	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	335						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)					ATGTGTTGAGGAAATAATTCA	0.299000														84			37		0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109509423	109509423	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:109509423C>T	uc010sxi.2	+	4	591	c.487C>T	c.(487-489)Cac>Tac	p.H163Y	USP30_uc001tnu.4_Missense_Mutation_p.H132Y	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	163					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ACAGGATGCTCACGAATTATT	0.493000														39			23		0	0	1	0	0
HPCA	3208	broad.mit.edu	37	1	33359166	33359166	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:33359166G>A	uc001bwh.3	+	2	460	c.420G>A	c.(418-420)gaG>gaA	p.E140E		NM_002143	NP_002134	P84074	HPCA_HUMAN	Homo sapiens hippocalcin (HPCA), mRNA.	140							actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AGATGCCGGAGGACGAGTCGA	0.647000														50			9		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19656741	19656741	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19656741C>T	uc002nmw.4	+	7	3490	c.3405C>T	c.(3403-3405)atC>atT	p.I1135I	CILP2_uc002nmv.4_Silent_p.I1129I	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	1129						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TTGGTGACATCCGCAGGGAGA	0.731000														17			4		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562537	140562537	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140562537G>A	uc003liv.3	+	0	1558	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	135					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATGTTCACTGAAAAGGAAAT	0.378000														49			18		0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902441	40902441	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40902441C>T	uc002onr.3	-	6	2087	c.1818G>A	c.(1816-1818)ccG>ccA	p.P606P	PRX_uc002onq.3_Silent_p.P467P|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	606	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				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)			CGGGCACCTTCGGGAGTTGCA	0.537000														209			84		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17419886	17419886	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17419886C>T	uc001mnc.3	-	30	3879	c.3753_splice	c.e30+1	p.M1251_splice		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1251	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TAGCACTTGCCATTCGGACTT	0.542000														44			11		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995875	19995875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:19995875C>T	uc002ktv.1	-	0	2004	c.1900G>A	c.(1900-1902)Gat>Aat	p.D634N		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	634						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TCTTTGGTATCATTTCTACTG	0.433000														229			88		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3076327	3076327	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:3076327C>T	uc003bpc.3	+	16	2134	c.1795C>T	c.(1795-1797)Ccc>Tcc	p.P599S	CNTN4_uc003bpb.1_Missense_Mutation_p.P270S|CNTN4_uc021wsg.1_Missense_Mutation_p.P599S|CNTN4_uc003bpd.1_Missense_Mutation_p.P599S|CNTN4_uc003bpe.3_Missense_Mutation_p.P271S|CNTN4_uc003bpf.3_Missense_Mutation_p.P270S	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	599	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.P271S(1)|p.P599S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCCTCCAGGTCCCCCAGAGGC	0.527000														41			13		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326001	152326001	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152326001C>T	uc001ezw.4	-	2	4334	c.4261G>A	c.(4261-4263)Gga>Aga	p.G1421R	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)			TGGCCAGATCCCCTTCTTCCA	0.527000														340			139		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37707446	37707446	+	Silent	SNP	G	A	A	rs112589819		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:37707446G>A	uc004aag.1	+	2	179	c.135G>A	c.(133-135)agG>agA	p.R45R	FRMPD1_uc004aah.1_Silent_p.R45R	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	45						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGCCCGCCAGGAACCCAACTC	0.498000														70			28		0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46398761	46398761	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:46398761C>T	uc001ncn.1	+	26	3031	c.2906_splice	c.e26+1	p.R969_splice	DGKZ_uc001nch.2_Splice_Site_p.R797_splice|DGKZ_uc010rgq.2_Splice_Site_p.R763_splice|DGKZ_uc010rgr.2_Splice_Site_p.R785_splice|DGKZ_uc001ncj.2_Splice_Site_p.R747_splice|DGKZ_uc001nck.2_Splice_Site_p.R559_splice|DGKZ_uc001ncm.2_Splice_Site_p.R780_splice|DGKZ_uc001ncl.2_Splice_Site_p.R781_splice|DGKZ_uc009yky.1_Splice_Site_p.R781_splice|DGKZ_uc010rgs.1_Splice_Site_p.R758_splice	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	969					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		ACCCACGCCCCGGTGAGTCCT	0.637000														15			14		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65425637	65425637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:65425637C>T	uc003dmn.3	-	8	1713	c.1187G>A	c.(1186-1188)cGg>cAg	p.R396Q	MAGI1_uc003dmm.3_Missense_Mutation_p.R396Q|MAGI1_uc003dmo.3_Missense_Mutation_p.R396Q|MAGI1_uc003dmp.3_Missense_Mutation_p.R396Q|MAGI1_uc010hny.2_Missense_Mutation_p.R281Q|MAGI1_uc021xac.1_Missense_Mutation_p.R397Q	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	396					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTGCTTCTTCCGTTTGGCTTC	0.517000											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		82			43		0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968065	4968065	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrY:4968065G>A	uc004fqo.3	+	1	3180	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K	PCDH11Y_uc010nwg.1_Missense_Mutation_p.E805K|PCDH11Y_uc004fql.1_Missense_Mutation_p.E805K|PCDH11Y_uc004fqm.1_Missense_Mutation_p.E805K|PCDH11Y_uc004fqn.1_Missense_Mutation_p.E816K|PCDH11Y_uc004fqp.1_Missense_Mutation_p.E587K	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	816	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACTGATTAATGAACTGGTGCG	0.438000														85			21		0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985509	108985509	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:108985509C>T	uc001tng.3	-	1	814	c.651G>A	c.(649-651)caG>caA	p.Q217Q	TMEM119_uc021rdl.1_Silent_p.Q217Q	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	217						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CCTGGACTTCCTGGTCCCCCT	0.697000														79			12		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833244	168833244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:168833244C>T	uc011bpj.1	-	7	2819	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K	MECOM_uc010hwk.1_Missense_Mutation_p.E641K|MECOM_uc003ffj.3_Missense_Mutation_p.E683K|MECOM_uc003ffi.3_Missense_Mutation_p.E618K|MECOM_uc011bpi.1_Missense_Mutation_p.E619K|MECOM_uc003ffn.3_Missense_Mutation_p.E618K|MECOM_uc003ffk.2_Missense_Mutation_p.E618K|MECOM_uc003ffl.2_Missense_Mutation_p.E778K|MECOM_uc011bpk.1_Missense_Mutation_p.E618K|MECOM_uc010hwn.2_Missense_Mutation_p.E806K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	27							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGTCTTGATTCGACGTTGCTT	0.473000														55			6		0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46415189	46415189	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46415189C>T	uc003cpo.4	+	2	918	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	CCR5_uc010hjd.3_Silent_p.L266L|CCR5_uc021wxb.1_Silent_p.L266L	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	266					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ATTCTTTGGCCTGAATAATTG	0.468000														352			123		0	0	1	0	0
SPDYE3	441272	broad.mit.edu	37	7	99917221	99917221	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99917221G>A	uc022aij.1	+	8	1564	c.1380G>A	c.(1378-1380)gaG>gaA	p.E460E	DQ601342_uc011kjm.1_5'Flank	NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN	Homo sapiens speedy homolog E3 (Xenopus laevis) (SPDYE3), mRNA.	460										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						AGGACGACGAGGCCCCCAAAC	0.552000														90			48		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227983423	227983423	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:227983423C>T	uc021vxr.1	-	5	528	c.427G>A	c.(427-429)Ggc>Agc	p.G143S	COL4A4_uc021vxs.1_Missense_Mutation_p.G143S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	143	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTCTTGAGCCATTGTGGCCA	0.502000														78			27		0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125622214	125622214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125622214G>A	uc010mwc.1	-	10	2072	c.1831C>T	c.(1831-1833)Cca>Tca	p.P611S	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.P611S|RC3H2_uc004bne.4_Missense_Mutation_p.P611S	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	611	Pro-rich.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GGGTACTGTGGGACTTCAAAG	0.353000														223			33		0	0	1	0	0
NRG2	9542	broad.mit.edu	37	5	139231339	139231339	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:139231339G>A	uc003lev.2	-	9	1876	c.1646C>T	c.(1645-1647)tCa>tTa	p.S549L	NRG2_uc003lew.2_Missense_Mutation_p.S543L|NRG2_uc003lex.2_Missense_Mutation_p.S541L|NRG2_uc003ley.2_Missense_Mutation_p.S535L|NRG2_uc021yed.1_Missense_Mutation_p.S475L	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	541					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTACCCACTGATGATAGCAT	0.632000														51			18		0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328312	48328312	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:48328312C>T	uc010rhu.2	+	0	538	c.538C>T	c.(538-540)Cat>Tat	p.H180Y		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTGTGATGTTCATCCCCTGCT	0.493000														28			32		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394637	86394637	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:86394637G>A	uc003uid.3	+	1	1275	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	GRM3_uc010lef.3_Missense_Mutation_p.R57Q|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	59					synaptic transmission	integral to plasma membrane		p.R59Q(2)|p.G58R(2)		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)	GAATGTGGGCGAATCAATGAA	0.418000														117			29		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95604162	95604162	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:95604162G>A	uc001tdp.4	-	1	1122	c.898C>T	c.(898-900)Ccc>Tcc	p.P300S	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	300					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATTTCTAAGGGACCAAGGTCT	0.403000														108			42		0	0	1	0	0
HIST1H4F	8361	broad.mit.edu	37	6	26240738	26240738	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:26240738G>A	uc003nhe.1	+	0	85	c.85G>A	c.(85-87)Ggc>Agc	p.G29S		NM_003540	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4f (HIST1H4F), mRNA.	29					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CAACATACAGGGCATCACGAA	0.557000														34			9		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84559348	84559348	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:84559348C>T	uc004eer.2	-	14	1712	c.1566_splice	c.e14+1	p.E522_splice	POF1B_uc004ees.3_Splice_Site_p.E522_splice	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	522							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TCCTTTTATACCTCTGACTGA	0.403000														43			26		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46598182	46598182	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:46598182G>A	uc009zkj.1	-	10	1409	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	SLC38A1_uc001rpb.3_Nonsense_Mutation_p.Q242*|SLC38A1_uc001rpc.3_Nonsense_Mutation_p.Q242*|SLC38A1_uc001rpd.3_Nonsense_Mutation_p.Q242*|SLC38A1_uc001rpe.3_Nonsense_Mutation_p.Q242*|SLC38A1_uc010slh.2_Nonsense_Mutation_p.Q215*|SLC38A1_uc001rpa.3_Nonsense_Mutation_p.Q242*	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	242					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CAGGGAATTTGAAATTTCTTG	0.323000														136			14		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095218	167095218	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167095218G>A	uc001geb.1	+	4	866	c.850G>A	c.(850-852)Gag>Aag	p.E284K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	284					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.E284Q(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGAGAGAGAAGAGGACTATGG	0.617000														50			11		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479923	142479923	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142479923G>A	uc011ksq.2	+	1	138	c.55G>A	c.(55-57)Gat>Aat	p.D19N	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		TGTCCCCTTTGATGATGATGA	0.547000														270			75		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513721	78513722	+	Nonsense_Mutation	DNP	CG	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:78513721_78513722CG>TA	uc001syp.3	+	14	3918_3919	c.3745_3746CG>TA	c.(3745-3747)cga>TAa	p.R1249*	NAV3_uc001syo.3_Nonsense_Mutation_p.R1249*|NAV3_uc010sub.2_Nonsense_Mutation_p.R749*|NAV3_uc009zsf.3_Nonsense_Mutation_p.R257*	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1249	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						ACCCACATTTCGAAGGTAAGGA	0.401000										HNSCC(70;0.22)				54			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13922350	13922350	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13922350G>A	uc003jfd.2	-	4	568	c.526C>T	c.(526-528)Ctc>Ttc	p.L176F	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	176	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)					GTGGCTCTGAGAGCAGGAATG	0.552000									Kartagener syndrome					47			19		0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54971043	54971043	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54971043C>T	uc001sgd.2	+	14	1935	c.1542C>T	c.(1540-1542)tcC>tcT	p.S514S	PDE1B_uc010soz.2_Silent_p.S377S|PDE1B_uc010spa.1_Silent_p.S473S|PDE1B_uc001sge.3_Silent_p.S494S|PDE1B_uc001sgf.3_Silent_p.S377S|PDE1B_uc009znq.3_Silent_p.S310S	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	514					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						ACGAGCTGTCCCCCTGTGAAG	0.557000														149			37		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23893247	23893247	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23893247C>T	uc001wjx.3	-	22	2897	c.2791G>A	c.(2791-2793)Gag>Aag	p.E931K		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	931			E -> K (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCATTCATCTCCTCCTCATCC	0.527000														137			37		0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28534796	28534796	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:28534796C>T	uc002hey.4	-	12	2148	c.1604G>A	c.(1603-1605)tGg>tAg	p.W535*	SLC6A4_uc010csg.3_Non-coding_Transcript	NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	535					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCTCCAGAACCACCCCGGGCT	0.577000														41			5		0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241534449	241534449	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241534449C>T	uc002vzk.2	+	6	1202	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F	CAPN10_uc010zoh.2_Missense_Mutation_p.L336F|CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Missense_Mutation_p.L336F|CAPN10_uc002vzn.2_Missense_Mutation_p.L208F|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	336	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		AGAGAGGCTGCTCTGCCATAC	0.637000														42			18		0	0	1	0	0
ATP5B	506	broad.mit.edu	37	12	57032929	57032929	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57032929G>A	uc001slr.3	-	8	1555	c.1450C>T	c.(1450-1452)Ctg>Ttg	p.L484L	BAZ2A_uc001slq.1_5'Flank|BAZ2A_uc010sqr.1_5'Flank	NM_001686	NP_001677	P06576	ATPB_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide (ATP5B), nuclear gene encoding mitochondrial protein, mRNA.	484					ATP hydrolysis coupled proton transport|angiogenesis|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|MHC class I protein binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTCTCCTTCAGGGGTACCAGC	0.483000														108			69		0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38355359	38355359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:38355359G>A	uc001ccf.1	-	2	212	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	INPP5B_uc009vvk.1_Missense_Mutation_p.R164C|INPP5B_uc001ccg.1_Missense_Mutation_p.R223C|INPP5B_uc010oij.1_Non-coding_Transcript	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	303					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTGGAGGAGCGAACCATGTCA	0.388000														140			44		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33840369	33840370	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:33840369_33840370CC>TT	uc001zhi.3	+	8	849_850	c.779_780CC>TT	c.(778-780)gcc>gTT	p.A260V	RYR3_uc010bar.3_Missense_Mutation_p.A260V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	260	MIR 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGACTCGAGCCAGGTCTCTTT	0.510000														24			4		0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78933433	78933433	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:78933433G>A	uc002bed.1	-	0	155	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	CHRNB4_uc002bee.1_Missense_Mutation_p.L15F|CHRNB4_uc010blh.1_Intron	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	15					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CGCCCGCAAAGGGCGACCAGG	0.711000														16			7		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9225293	9225293	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:9225293C>T	uc001qvk.1	-	29	4044	c.3931G>A	c.(3931-3933)Gaa>Aaa	p.E1311K	A2M_uc009zgk.1_Missense_Mutation_p.E1161K	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1311					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.G1310W(2)|p.G1310G(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	ATGCTGTATTCCCCAGGCAGC	0.517000														121			62		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57731603	57731603	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:57731603A>T	uc010bfw.3	+	2	1599	c.1406A>T	c.(1405-1407)aAa>aTa	p.K469I	CGNL1_uc002aeg.3_Missense_Mutation_p.K469I	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	469	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATAGATGGGAAAGTTCTGGAA	0.582000														66			22		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179414035	179414035	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179414035C>T	uc021vsy.1	-	287	84839	c.84614G>A	c.(84613-84615)cGa>cAa	p.R28205Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R21900Q|TTN_uc021vta.1_Missense_Mutation_p.R21833Q|TTN_uc021vtb.1_Missense_Mutation_p.R21708Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29132	Ig-like 131.						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)			AGAGATTGGTCGTTTGCTGAT	0.428000														84			30		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579921	140579921	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140579921C>T	uc003liy.3	+	0	574	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	192	Cadherin 2.				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)			TAGGAAATACCCCGAGTTAGT	0.463000														66			16		0	0	1	0	0
PYGO1	26108	broad.mit.edu	37	15	55839201	55839201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:55839201C>T	uc002adf.1	-	2	280	c.280G>A	c.(280-282)Ggt>Agt	p.G94S	PYGO1_uc010bfl.1_Missense_Mutation_p.G94S	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.	94	Pro-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		CCAGGATAACCAGGGCCAAGA	0.443000														136			32		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250700	140250700	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140250700G>A	uc003lia.2	+	0	2870	c.2012G>A	c.(2011-2013)aGc>aAc	p.S671N	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_uc011dae.2_Missense_Mutation_p.S671N	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	682	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)			TTGGTGGAGAGCGGACAGGCG	0.662000														68			16		0	0	1	0	0
SLC22A13	9390	broad.mit.edu	37	3	38307601	38307601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38307601C>T	uc003chz.3	+	0	304	c.250C>T	c.(250-252)Ctc>Ttc	p.L84F	SLC22A13_uc011aym.1_Non-coding_Transcript|SLC22A13_uc011ayn.1_Missense_Mutation_p.L84F	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 13 (SLC22A13), mRNA.	84						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		AGAGCCCTGCCTCATGTTCCG	0.592000														36			5		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158326659	158326659	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158326659G>A	uc001fse.3	+	5	1433	c.1140G>A	c.(1138-1140)tgG>tgA	p.W380*	CD1E_uc001fsh.3_Nonsense_Mutation_p.W179*|CD1E_uc001fry.3_Nonsense_Mutation_p.W313*|CD1E_uc001fsf.3_Nonsense_Mutation_p.W368*|CD1E_uc001fsg.3_3'UTR|CD1E_uc009wsv.3_Nonsense_Mutation_p.W281*|CD1E_uc001fsj.3_Nonsense_Mutation_p.W223*|CD1E_uc001fsk.3_Nonsense_Mutation_p.W290*|CD1E_uc001fsa.3_Nonsense_Mutation_p.W136*|CD1E_uc001fsd.3_3'UTR|CD1E_uc001frz.3_Nonsense_Mutation_p.W278*|CD1E_uc010pig.2_Nonsense_Mutation_p.W124*|CD1E_uc001fsc.3_Nonsense_Mutation_p.W191*|CD1E_uc021pbm.1_Non-coding_Transcript|CD1E_uc009wsw.3_3'UTR	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	380					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen		p.W380*(2)		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)					TGAAGAAGTGGAAGACACGCC	0.428000														116			26		0	0	1	0	0
B3GNT6	192134	broad.mit.edu	37	11	76751273	76751273	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:76751273C>T	uc021qnq.1	+	0	678	c.678C>T	c.(676-678)ttC>ttT	p.F226F	B3GNT6_uc021qnp.1_Silent_p.F226F			Q6ZMB0	B3GN6_HUMAN	SubName: Full=Uncharacterized protein;	226					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						ACGACGTGTTCGTGCACACCG	0.677000														41			7		0	0	1	0	0
LPAR5	57121	broad.mit.edu	37	12	6730251	6730251	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6730251G>A	uc009zer.2	-	1	445	c.164C>T	c.(163-165)tCg>tTg	p.S55L	LPAR5_uc001qps.2_Missense_Mutation_p.S55L|LPAR5_uc010sff.1_Missense_Mutation_p.S55L|LPAR5_uc021qub.1_Missense_Mutation_p.S55L	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN	Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.	55						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						GCTCACCACCGAGTGCACGCG	0.662000														28			5		0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31710235	31710235	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:31710235G>A	uc021wuu.1	-	9	2666	c.1995C>T	c.(1993-1995)ttC>ttT	p.F665F	OSBPL10_uc003ceu.1_Silent_p.F422F|OSBPL10_uc011axf.2_Silent_p.F601F	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	665					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TGTTGTAGGTGAACTCTAAAG	0.458000														101			50		0	0	1	0	0
SPRR2D	6703	broad.mit.edu	37	1	153012740	153012740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153012740G>A	uc021ozq.1	-	0	83	c.83C>T	c.(82-84)cCa>cTa	p.P28L	SPRR2D_uc001fbb.2_Missense_Mutation_p.P28L	NM_006945	NP_008876	P22532	SPR2D_HUMAN	Homo sapiens small proline-rich protein 2D (SPRR2D), mRNA.	28	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTCGGGGGTGGACATGGCTC	0.607000														138			51		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76900452	76900452	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:76900452C>T	uc001oyb.2	+	27	3839	c.3567C>T	c.(3565-3567)gcC>gcT	p.A1189A	MYO7A_uc010rsm.1_Silent_p.A1178A|MYO7A_uc001oyc.2_Silent_p.A1189A|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.A400A	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1189	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						GCAGCTATGCCCGGGGCTGGA	0.622000														55			29		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38574572	38574572	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:38574572C>T	uc003tgu.3	-	1	325	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	AMPH_uc003tgv.3_Missense_Mutation_p.E37K	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	37	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCGAACTGTTCGTCTTTTGTC	0.348000														95			8		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76757136	76757136	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:76757136C>T	uc002lmt.3	+	2	3717	c.3717C>T	c.(3715-3717)ccC>ccT	p.P1239P	SALL3_uc010dra.3_Silent_p.P774P	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCGGCATCCCCCAGCTCCCCG	0.617000														161			35		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40590106	40590106	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:40590106G>A	uc002yxk.2	-	30	3926	c.3631C>T	c.(3631-3633)Cga>Tga	p.R1211*	BRWD1_uc010goc.1_Intron|BRWD1_uc021wjf.1_Nonsense_Mutation_p.R1211*|BRWD1_uc010god.1_Nonsense_Mutation_p.R177*	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1211	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.R1211Q(1)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGTCTCATTCGAATTGTGTAA	0.363000														58			17		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940539	22940539	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22940539C>T	uc021urt.1	-	3	2327	c.2172G>A	c.(2170-2172)gaG>gaA	p.E724E		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATGAATTATCTCATGTTTTC	0.363000														70			24		0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8148302	8148302	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:8148302G>A	uc010rbm.1	-	4	712	c.658C>T	c.(658-660)Cga>Tga	p.R220*	RIC3_uc001mgb.2_Nonsense_Mutation_p.R30*|RIC3_uc010rbl.1_Nonsense_Mutation_p.R142*|RIC3_uc001mgd.2_Nonsense_Mutation_p.R192*|RIC3_uc001mgc.2_Nonsense_Mutation_p.R191*|RIC3_uc009yfm.2_Intron|RIC3_uc001mge.2_Intron|RIC3_uc009yfn.2_5'UTR	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	192						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GTGATTTCTCGGAGCTGATGT	0.443000														56			18		0	0	1	0	0
CD226	10666	broad.mit.edu	37	18	67540457	67540457	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:67540457G>A	uc010dqo.3	-	3	1200	c.753C>T	c.(751-753)ctC>ctT	p.L251L	CD226_uc002lkm.4_Silent_p.L251L|CD226_uc021uli.1_Silent_p.L96L	NM_006566	NP_006557	Q15762	CD226_HUMAN	Homo sapiens CD226 molecule (CD226), mRNA.	251					cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				CAGCCACAAAGAGGGTATATT	0.363000														137			63		0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124459232	124459232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124459232C>T	uc001lgn.3	-	0	107	c.75G>A	c.(73-75)agG>agA	p.R25R		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	25										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TTTCATTCTTCCTTTCTTGCA	0.448000														65			24		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39788323	39788323	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:39788323C>T	uc021olt.1	+	30	4140	c.4088C>T	c.(4087-4089)tCg>tTg	p.S1363L	MACF1_uc021ols.1_Missense_Mutation_p.S1363L|MACF1_uc001cdc.2_Missense_Mutation_p.S1363L|MACF1_uc001cda.1_Missense_Mutation_p.S1271L|MACF1_uc009vvq.1_Missense_Mutation_p.S420L|MACF1_uc001cdb.1_Missense_Mutation_p.S450L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1363					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	p.S1363L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTGTGGAATCGCAGCAGAAA	0.463000														97			39		0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27368311	27368311	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:27368311C>T	uc003njf.1	+	2	680	c.162C>T	c.(160-162)ttC>ttT	p.F54F	ZNF391_uc021ypw.1_Silent_p.F54F	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	Homo sapiens zinc finger protein 391 (ZNF391), mRNA.	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						AAGAAATTTTCACAGGGGAGG	0.428000														77			26		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26115882	26115882	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:26115882C>T	uc002gzu.3	-	3	535	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	NOS2_uc010crh.1_Missense_Mutation_p.G91S|NOS2_uc010wab.1_Missense_Mutation_p.G91S	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	91					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	ATCCCGCTGCCCCAGTTTTTG	0.527000														74			61		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13381784	13381784	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:13381784G>A	uc003bxv.1	-	23	3326	c.3243C>T	c.(3241-3243)ttC>ttT	p.F1081F		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1081					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCATCAGCCTGAACGGGGGAA	0.577000														42			8		0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072297	134072298	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:134072297_134072298CC>TT	uc003iha.3	+	0	1828_1829	c.1002_1003CC>TT	c.(1000-1005)ggcccc>ggTTcc	p.P335S	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Missense_Mutation_p.P335S	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	335	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGGACCTGGGCCCCAACGCCGT	0.599000														121			20		0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112944888	112944888	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:112944888C>T	uc002tho.1	+	7	1396	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	FBLN7_uc010fki.1_Silent_p.I329I|FBLN7_uc010fkj.1_Silent_p.I241I	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	375					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTTTGGGATCGTGGGTGGGA	0.642000														101			56		0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41798316	41798316	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41798316C>A	uc002oqb.4	+	7	1455	c.1166C>A	c.(1165-1167)cCc>cAc	p.P389H	HNRNPUL1_uc002opz.4_Missense_Mutation_p.P289H|HNRNPUL1_uc002oqa.4_Missense_Mutation_p.P289H|HNRNPUL1_uc010ehm.3_Missense_Mutation_p.P389H|HNRNPUL1_uc002oqc.4_Missense_Mutation_p.P275H|HNRNPUL1_uc002oqe.4_Intron|HNRNPUL1_uc002oqd.4_Missense_Mutation_p.P289H|HNRNPUL1_uc010ehn.3_Missense_Mutation_p.P289H|HNRNPUL1_uc010xvy.2_Missense_Mutation_p.P289H|HNRNPUL1_uc010ehp.3_Missense_Mutation_p.P245H|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.P289H	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRNPUL1), transcript variant 1, mRNA.	389	Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGAGCAGAGCCCTACTGTTCT	0.557000														84			34		6.50621e-10	6.52852e-10	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176760486	176760486	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176760486C>T	uc001gkz.3	+	18	6052	c.4888C>T	c.(4888-4890)Ccc>Tcc	p.P1630S	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1630	Sushi 4.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATTCTAGCTTCCCATCCTCTG	0.408000														49			13		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189020234	189020234	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:189020234C>T	uc011cle.1	-	3	798	c.576G>A	c.(574-576)gtG>gtA	p.V192V	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Silent_p.V142V|TRIML2_uc011clf.1_Silent_p.V192V	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	142	B30.2/SPRY.						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)		TCTCAAGCTCCACGATGAGCT	0.478000														90			30		0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22202044	22202044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:22202044C>T	uc003svg.3	-	12	1253	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	RAPGEF5_uc011jyl.1_5'UTR	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	164					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TGTTCATCTTCAGGTAACCAG	0.343000														61			21		0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170873696	170873696	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:170873696C>T	uc003qxu.3	+	3	840	c.561C>T	c.(559-561)gcC>gcT	p.A187A	TBP_uc011ehf.2_Silent_p.A167A|TBP_uc003qxt.3_Silent_p.A187A	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	187				A -> R (in Ref. 3; AAC03409).	cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		CACTTCGTGCCCGAAACGCCG	0.318000														26			17		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80746087	80746087	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:80746087G>A	uc001szd.3	+	43	5257	c.5251G>A	c.(5251-5253)Gac>Aac	p.D1751N		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTCACCGGAAGACTTTTGTGA	0.338000														17			10		0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60351455	60351455	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:60351455C>T	uc002izq.2	-	1	134	c.22G>A	c.(22-24)Ggt>Agt	p.G8S	TBC1D3P2_uc010woz.2_Non-coding_Transcript					Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						CACCAACTACCCGCGACCTCT	0.542000														474			119		0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9804648	9804648	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:9804648C>T	uc003bst.3	-	4	564	c.379G>A	c.(379-381)Gat>Aat	p.D127N	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_5'Flank|AX748417_uc003bsv.1_Non-coding_Transcript	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	127	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TTCACAGCATCCAGCACCTGG	0.607000														42			15		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	169985283	169985283	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169985283G>A	uc002ues.3	-	78	14071	c.13858C>T	c.(13858-13860)Cct>Tct	p.P4620S		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4620					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGCTTAGCAGGGAGCGAAGGT	0.453000														129			46		0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207135558	207135558	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207135558C>T	uc001hfa.4	-	5	1152	c.652_splice	c.e5+1	p.G218_splice	FCAMR_uc001hfb.3_Splice_Site_p.V218_splice|FCAMR_uc009xca.2_Splice_Site_p.V218_splice|FCAMR_uc021pig.1_Splice_Site_p.G133_splice	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	173						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						CAGCTCATACCTGCAGAGATG	0.512000														50			17		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111595608	111595608	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:111595608C>T	uc003kpv.1	-	7	985	c.711G>A	c.(709-711)aaG>aaA	p.K237K		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	237	FERM.					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)		TCCCCACTTGCTTTTTATTCT	0.408000														83			30		0	0	1	0	0
FAM81B	153643	broad.mit.edu	37	5	94749806	94749806	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:94749806G>A	uc003kla.1	+	3	495	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	150			R -> G (in dbSNP:rs10042271).					p.R150*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CATGGCTTTCGAAAAGAGGAA	0.493000														81			41		0	0	1	0	0
FCER2	2208	broad.mit.edu	37	19	7754151	7754151	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7754151C>T	uc002mhn.3	-	10	1111	c.894G>A	c.(892-894)gaG>gaA	p.E298E	FCER2_uc021unx.1_Silent_p.E297E|FCER2_uc002mhm.2_Silent_p.E298E|FCER2_uc010xjt.2_Silent_p.E220E	NM_001220500	NP_001207429	P06734	FCER2_HUMAN	Homo sapiens Fc fragment of IgE, low affinity II, receptor for (CD23) (FCER2), transcript variant 3, mRNA.	298					positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						GTCCCATGGACTCCGCGGAAC	0.672000														20			8		0	0	1	0	0
WDR43	23160	broad.mit.edu	37	2	29135488	29135488	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29135488C>T	uc002rmo.2	+	3	550	c.518C>T	c.(517-519)tCc>tTc	p.S173F	SNORD92_uc002rmp.1_5'Flank	NM_015131	NP_055946	Q15061	WDR43_HUMAN	Homo sapiens WD repeat domain 43 (WDR43), mRNA.	173						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					AGTGTCAGTTCCCTATGTATC	0.398000														59			32		0	0	1	0	0
TMEM109	79073	broad.mit.edu	37	11	60689298	60689298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60689298C>T	uc001nqg.3	+	3	771	c.393C>T	c.(391-393)ttC>ttT	p.F131F	TMEM132A_uc001nqi.3_5'Flank|TMEM132A_uc001nqj.3_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	131						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						TCCAGACCTTCCTGCTGTGGG	0.632000														108			54		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82807962	82807962	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:82807962C>T	uc003kii.3	+	5	1145	c.789C>T	c.(787-789)ttC>ttT	p.F263F	VCAN_uc003kij.3_Silent_p.F263F|VCAN_uc010jau.2_Silent_p.F263F|VCAN_uc003kik.3_Silent_p.F263F|VCAN_uc003kih.4_Silent_p.F263F	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	263	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AATTCACCTTCGAGGAGGCTG	0.488000														54			19		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922361	24922361	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24922361A>G	uc001ywo.3	+	0	1821	c.1347A>G	c.(1345-1347)aaA>aaG	p.K449K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	449	Pro-rich.				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)		CCACACCAAAAATGGATGAGA	0.507000														113			55		0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36556853	36556853	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:36556853G>A	uc003aot.3	-	0	125	c.87C>T	c.(85-87)ttC>ttT	p.F29F	APOL3_uc003aoq.3_5'UTR|APOL3_uc003aor.3_5'UTR|APOL3_uc003aos.3_5'UTR|APOL3_uc003aou.3_Intron|APOL3_uc003aov.3_Intron	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	29					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						ACCCAAAAGGGAAAGTGAAAG	0.537000														49			24		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40854284	40854284	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:40854284C>T	uc003jmg.3	+	2	2925	c.2850C>T	c.(2848-2850)tcC>tcT	p.S950S		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	950					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CCAACCCATCCACAGTCAAAC	0.498000														210			88		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45671561	45671561	+	Silent	SNP	G	A	A	rs148926071		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45671561G>A	uc002zeg.1	-	8	1198	c.714C>T	c.(712-714)ttC>ttT	p.F238F	DNMT3L_uc002zeh.1_Silent_p.F238F	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	238					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	p.F238F(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		ACACAAGATCGAAGGGTCCCC	0.652000														36			9		0	0	1	0	0
POLR3F	10621	broad.mit.edu	37	20	18448034	18448034	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:18448034G>A	uc002wqv.3	+	1	1	c.-117_splice	c.e1-1		DZANK1_uc002wqr.4_5'Flank|DZANK1_uc002wqs.4_5'Flank|DZANK1_uc002wqq.4_5'Flank|DZANK1_uc010zsa.2_5'Flank|DZANK1_uc002wqu.1_5'Flank|DZANK1_uc010gct.1_5'Flank|POLR3F_uc002wqw.3_Splice_Site|POLR3F_uc002wqx.3_Splice_Site	NM_006466	NP_006457	Q9H1D9	RPC6_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa (POLR3F), mRNA.						innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding			breast(2)	2						GCGACACGAGGAAGAAGGCCC	0.657000														10			5		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17588655	17588655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17588655G>A	uc001bai.3	+	2	341	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	101					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CTCCAGCCATGAGCCTCTGCC	0.547000														29			15		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130788431	130788431	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:130788431C>T	uc003ysr.3	-	2	1203	c.321G>A	c.(319-321)ggG>ggA	p.G107G		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	107						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CAGAGGCCTCCCCTGACACAC	0.478000														89			20		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71901373	71901373	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71901373G>A	uc010fen.3	+	51	5972	c.5831G>A	c.(5830-5832)cGa>cAa	p.R1944Q	DYSF_uc010fei.3_Missense_Mutation_p.R1922Q|DYSF_uc010feh.3_Missense_Mutation_p.R1912Q|DYSF_uc002sig.4_Missense_Mutation_p.R1891Q|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R1936Q|DYSF_uc010fee.3_Missense_Mutation_p.R1926Q|DYSF_uc010fef.3_Missense_Mutation_p.R1943Q|DYSF_uc002sie.3_Missense_Mutation_p.R1905Q|DYSF_uc010feo.3_Missense_Mutation_p.R1937Q|DYSF_uc010fej.3_Missense_Mutation_p.R1913Q|DYSF_uc010fel.3_Missense_Mutation_p.R1892Q|DYSF_uc010fem.3_Missense_Mutation_p.R1927Q|DYSF_uc002sif.3_Missense_Mutation_p.R1906Q|DYSF_uc010fek.3_Missense_Mutation_p.R1923Q|DYSF_uc010yqy.2_Missense_Mutation_p.R786Q|DYSF_uc010yqz.2_Missense_Mutation_p.R666Q	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1905						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATCCCAGCACGAGTGGTGTTC	0.517000														56			27		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117788609	117788609	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:117788609C>T	uc004eqp.2	+	42	4803	c.4740C>T	c.(4738-4740)atC>atT	p.I1580I	DOCK11_uc004eqq.2_Silent_p.I1359I	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1580	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CCAAGAGAATCCGCACTGTTC	0.418000														19			40		0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53686563	53686563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:53686563G>A	uc002ehp.3	-	14	2100	c.2036C>T	c.(2035-2037)aCc>aTc	p.T679I	RPGRIP1L_uc002eho.4_Missense_Mutation_p.T679I|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.T679I|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.T679I|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.T679I	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	679	C2 1.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GACCTCAAGGGTGATAGTATT	0.363000														73			15		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75829083	75829083	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:75829083C>T	uc021zbv.1	-	43	7228	c.7193G>A	c.(7192-7194)gGa>gAa	p.G2398E	COL12A1_uc021zbw.1_Missense_Mutation_p.G1234E|COL12A1_uc003phs.3_Missense_Mutation_p.G2398E|COL12A1_uc003pht.3_Missense_Mutation_p.G1234E	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2398	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGTGTTTCCTCCTCTGTACCT	0.438000														142			18		0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683513	159683514	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159683513_159683514GG>AA	uc001ftw.3	-	1	580_581	c.476_477CC>TT	c.(475-477)tcc>tTT	p.S159F	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	159	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	TCCCACCGAAGGAATCCTGCTC	0.520000														335			126		0	0	1	0	0
LRRC48	83450	broad.mit.edu	37	17	17891358	17891358	+	Silent	SNP	C	T	T	rs145108400	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:17891358C>T	uc021trj.1	+	5	769	c.390C>T	c.(388-390)ctC>ctT	p.L130L	LRRC48_uc010vxe.2_Silent_p.L130L|LRRC48_uc021tri.1_Silent_p.L130L|LRRC48_uc021trk.1_Silent_p.L130L	NM_001130090	NP_112584	Q9H069	LRC48_HUMAN	Homo sapiens leucine rich repeat containing 48 (LRRC48), transcript variant 1, mRNA.	130						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TGGACGCCCTCGTCAAGCTGC	0.587000														29			14		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25255686	25255686	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25255686G>A	uc003abg.2	+	8	962	c.805G>A	c.(805-807)Gac>Aac	p.D269N	SGSM1_uc010guu.1_Missense_Mutation_p.D269N|SGSM1_uc003abh.2_Missense_Mutation_p.D269N|SGSM1_uc003abj.2_Missense_Mutation_p.D269N|SGSM1_uc003abi.1_Missense_Mutation_p.D244N|SGSM1_uc003abf.2_Missense_Mutation_p.D269N	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	269						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TCTGCAGAGGGACGACATGGA	0.557000														42			27		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45134815	45134815	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:45134815C>T	uc003com.3	-	5	1716	c.1581G>A	c.(1579-1581)gaG>gaA	p.E527E		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	527	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCCTGGAGGCCTCTTGTTGGA	0.527000														73			32		0	0	1	0	0
SLC38A9	153129	broad.mit.edu	37	5	54922345	54922345	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:54922345G>A	uc003jqf.2	-	15	2255	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L	SLC38A9_uc003jqd.2_Silent_p.L492L|SLC38A9_uc010ivx.2_Silent_p.L492L|SLC38A9_uc003jqe.2_Non-coding_Transcript|SLC38A9_uc010ivy.2_Silent_p.L426L	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	Homo sapiens solute carrier family 38, member 9 (SLC38A9), mRNA.	555					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TGAACAATCAGGTTAGCCACG	0.368000														110			42		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017344	93017344	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:93017344C>T	uc022axs.1	-	6	1104	c.917_splice	c.e6+1	p.R306_splice	RUNX1T1_uc003yfc.2_Splice_Site_p.R220_splice|RUNX1T1_uc010mam.3_Splice_Site_p.R220_splice|RUNX1T1_uc003yfe.2_Splice_Site_p.R210_splice|RUNX1T1_uc003yfd.3_Splice_Site_p.R247_splice|RUNX1T1_uc022axo.1_Splice_Site_p.R247_splice|RUNX1T1_uc010mao.3_Splice_Site_p.R220_splice|RUNX1T1_uc011lgi.2_Splice_Site_p.R258_splice|RUNX1T1_uc022axp.1_Splice_Site_p.R247_splice|RUNX1T1_uc022axq.1_Splice_Site_p.R247_splice|RUNX1T1_uc022axr.1_Splice_Site_p.R247_splice|RUNX1T1_uc022axt.1_Splice_Site_p.R247_splice|RUNX1T1_uc022axu.1_Splice_Site_p.R227_splice|RUNX1T1_uc022axv.1_Splice_Site_p.R247_splice|RUNX1T1_uc003yfb.2_Splice_Site_p.R210_splice|RUNX1T1_uc003yff.1_Missense_Mutation_p.R210K	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	247					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCCCTCTCACCTGTCTGGAGT	0.512000														100			21		0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140380881	140380881	+	Missense_Mutation	SNP	C	T	T	rs138501789		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:140380881C>T	uc003vvy.1	+	3	1427	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	ADCK2_uc003vvz.3_Missense_Mutation_p.P417S	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	417	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GGCAGGAATTCCCGTGGACTT	0.567000														53			5		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167023529	167023529	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:167023529C>T	uc011bpc.2	-	16	1964	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K	ZBBX_uc003feq.3_Missense_Mutation_p.E514K|ZBBX_uc003fep.3_Missense_Mutation_p.E543K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	543						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATTTCTCCTCAATGGGAGCT	0.353000														48			24		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38941514	38941514	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38941514G>A	uc021wvy.1	-	12	2092	c.1893C>T	c.(1891-1893)ctC>ctT	p.L631L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	631					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGTAGGGATCGAGCGCAATGA	0.413000														37			16		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52587970	52587970	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:52587970C>T	uc001jjj.3	-	6	878	c.690G>A	c.(688-690)gtG>gtA	p.V230V	A1CF_uc010qho.2_Silent_p.V238V|A1CF_uc010qhn.2_Silent_p.V238V|A1CF_uc009xov.3_Silent_p.V230V|A1CF_uc001jji.3_Silent_p.V230V|A1CF_uc001jjh.3_Silent_p.V238V	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	230					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ATAGGATTTTCACTGAAGACA	0.363000														79			26		0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12184911	12184911	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12184911T>A	uc002mtb.2	+	1	212	c.69T>A	c.(67-69)ccT>ccA	p.P23P	ZNF844_uc010dym.1_5'UTR	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TGCTGGATCCTTCCCAGAAGA	0.493000														103			41		0	0	1	0	0
TESK1	7016	broad.mit.edu	37	9	35608894	35608894	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35608894C>T	uc003zxa.3	+	9	1372	c.1036C>T	c.(1036-1038)Ccc>Tcc	p.P346S	TESK1_uc010mks.3_Missense_Mutation_p.P186S	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Homo sapiens testis-specific kinase 1 (TESK1), mRNA.	346					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCCACGCTTCCCAGGCCAGA	0.582000														112			41		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218700808	218700808	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:218700808G>A	uc002vgt.2	-	17	3157	c.2759C>T	c.(2758-2760)tCc>tTc	p.S920F	TNS1_uc002vgr.2_Missense_Mutation_p.S920F|TNS1_uc002vgs.2_Missense_Mutation_p.S920F|TNS1_uc010zjv.1_Missense_Mutation_p.S920F	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	920						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.R919C(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTGGACAGGGGAGCGAACCCC	0.622000														66			37		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62768205	62768205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62768205C>T	uc009yon.3	-	2	545	c.424G>A	c.(424-426)Gac>Aac	p.D142N	SLC22A8_uc001nwn.1_5'Flank|SLC22A8_uc009yom.3_Missense_Mutation_p.D19N|SLC22A8_uc001nwo.3_Missense_Mutation_p.D142N|SLC22A8_uc010rmm.2_Missense_Mutation_p.D51N|SLC22A8_uc001nwp.2_Missense_Mutation_p.D142N	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	142					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TCAGACAGGTCTCCAAGCACG	0.562000														45			17		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21120489	21120489	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:21120489C>T	uc001iqi.3	-	14	1870	c.1473G>A	c.(1471-1473)gaG>gaA	p.E491E	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	491					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TAATTTCAGTCTCCAGATCTC	0.428000														52			25		0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39116746	39116746	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39116746G>A	uc002hvo.1	-	5	1040	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F	KRT39_uc010wfm.1_Missense_Mutation_p.S68F	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	335	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GCACTCTTGGGAATCTCTCTA	0.463000														85			24		0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6222145	6222145	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6222145G>A	uc002mek.3	-	5	1261	c.1097C>T	c.(1096-1098)tCc>tTc	p.S366F		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	366					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	p.A365S(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GGACTTGAAGGAGGCCTCGTC	0.642000			T	MLL	AL									22			7		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	169997050	169997050	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169997050C>T	uc002ues.3	-	71	13327	c.13114G>A	c.(13114-13116)Gaa>Aaa	p.E4372K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4372					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATAGGCAGTTCGATGGCTGCA	0.547000														29			12		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227465	38227465	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:38227465C>T	uc009vvi.3	-	2	548	c.462G>A	c.(460-462)acG>acA	p.T154T	EPHA10_uc001cbw.4_Silent_p.T154T	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	154						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGCCGCGATCGTGTCGATTT	0.662000														31			23		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344279	56344279	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56344279C>T	uc001niz.1	-	0	919	c.919G>A	c.(919-921)Gga>Aga	p.G307R	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AAGGATTTTCCCCTAATCATT	0.373000														197			74		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4835910	4835910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4835910G>A	uc001qne.1	+	1	516	c.424G>A	c.(424-426)Gac>Aac	p.D142N		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	142						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGCGGCCCAGGACCTCTTCCG	0.552000														49			21		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36224722	36224722	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36224722C>T	uc021usv.1	+	29	7108	c.7108C>T	c.(7108-7110)Ccc>Tcc	p.P2370S	MLL2_uc021usu.1_Missense_Mutation_p.P1184S	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	919	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCCCCAGGTCCCCGATGGTCC	0.637000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				40			19		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862327	14862327	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:14862327C>T	uc003bzc.3	+	0	1859	c.1749C>T	c.(1747-1749)ctC>ctT	p.L583L	FGD5_uc011avk.2_Silent_p.L583L	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	583					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.L342L(1)|p.L583L(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGGACAATCTCTCTCTGTCGT	0.562000														59			17		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40044087	40044087	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:40044087G>A	uc002xka.1	-	33	6856	c.6678C>T	c.(6676-6678)tcC>tcT	p.S2226S	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2226					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGGCTCCTGGGGACCCCTCTG	0.597000														12			8		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13386683	13386683	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:13386683G>A	uc002mwy.3	-	23	4206	c.3970C>T	c.(3970-3972)Ctg>Ttg	p.L1324L	CACNA1A_uc002mwx.3_Silent_p.L30L|CACNA1A_uc010dzc.2_Silent_p.L850L|CACNA1A_uc010xnd.2_Silent_p.L1327L|CACNA1A_uc021ups.1_Silent_p.L1324L|CACNA1A_uc010xne.2_Silent_p.L1327L|CACNA1A_uc010dze.2_Silent_p.L1324L|CACNA1A_uc021upt.1_Silent_p.L1325L	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1325					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AAGGCTACCAGGGCCCCACTG	0.562000														28			12		0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	45972760	45972760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:45972760G>A	uc011bal.1	-	15	4226	c.4114C>T	c.(4114-4116)Ctc>Ttc	p.L1372F	FYCO1_uc003cpb.4_Missense_Mutation_p.L1352F	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	1352	GOLD.				transport	integral to membrane	metal ion binding|protein binding	p.L1352F(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCCACTGTGAGGGGTACTTTG	0.547000														32			10		0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44228526	44228526	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44228526C>T	uc003tkl.2	-	0	497	c.27G>A	c.(25-27)gaG>gaA	p.E9E		NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	9					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCTTGGCGGCCTCCATCCTGG	0.562000														29			13		0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:140811108C>T	uc021xsg.1	-	1	2234	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	494	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537000														38			4		0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18182980	18182980	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18182980C>T	uc002nhx.1	-	9	1134	c.1083G>A	c.(1081-1083)tcG>tcA	p.S361S	IL12RB1_uc002nhw.1_Silent_p.S321S|IL12RB1_uc010xqb.1_Silent_p.S321S|IL12RB1_uc002nhy.3_Silent_p.S321S	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	321	Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CAAATTGGTTCGAGGAGATGA	0.627000														35			17		0	0	1	0	0
LCN1	3933	broad.mit.edu	37	9	138415806	138415807	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:138415806_138415807GG>AA	uc022bpk.1	+	3	433_434	c.373_374GG>AA	c.(373-375)ggg>AAg	p.G125K	LCN1_uc022bpj.1_Missense_Mutation_p.G125K|LCN1_uc004cfz.2_Missense_Mutation_p.G125K|LCN1_uc004cga.2_Missense_Mutation_p.G125K	NM_001252618	NP_001239547	P31025	LCN1_HUMAN	Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA.	125					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	p.G125G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		CGAGCTGCACGGGAAGCCGGTC	0.639000														42			11		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166911222	166911222	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166911222C>T	uc002udo.4	-	5	755	c.528G>A	c.(526-528)agG>agA	p.R176R	SCN1A_uc010fpk.3_Silent_p.R176R|SCN1A_uc021vsb.1_Silent_p.R176R	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	176						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AACAGAATCCCCTTGCAATAA	0.323000														44			4		0	0	1	0	0
IFLTD1	160492	broad.mit.edu	37	12	25699359	25699359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:25699359G>A	uc010sji.1	-	3	685	c.440C>T	c.(439-441)aCt>aTt	p.T147I	IFLTD1_uc001rgt.1_Missense_Mutation_p.T29I|IFLTD1_uc001rgs.2_Missense_Mutation_p.T126I|IFLTD1_uc010sjj.2_Missense_Mutation_p.T63I|IFLTD1_uc009zjc.2_Missense_Mutation_p.T147I	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.	126						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GTATTTTAAAGTTTTCTGAGT	0.363000														61			23		0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135447862	135447863	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135447862_135447863GG>AA	uc004cbn.3	+	6	976_977	c.928_929GG>AA	c.(928-930)ggg>AAg	p.G310K	C9orf171_uc004cbo.3_Missense_Mutation_p.G274K	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	310								p.Q309K(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CGTGCGCCAGGGGACCCTGCGG	0.599000														32			13		0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144800391	144800391	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144800391G>A	uc003yzj.3	+	3	246	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	69	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGAGTTTGGGGACCATCCCAA	0.592000														47			20		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56078540	56078540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:56078540C>T	uc010giw.1	-	9	1903	c.1792G>A	c.(1792-1794)Ggt>Agt	p.G598S	CTCFL_uc010gix.1_Missense_Mutation_p.G598S|CTCFL_uc002xym.2_Missense_Mutation_p.G598S|CTCFL_uc010gjb.1_Missense_Mutation_p.G598S|CTCFL_uc010gja.1_Missense_Mutation_p.G548S|CTCFL_uc010gjc.1_Missense_Mutation_p.G598S|CTCFL_uc010gjd.1_Missense_Mutation_p.G598S|CTCFL_uc010gje.3_Missense_Mutation_p.G598S|CTCFL_uc010gjg.3_Missense_Mutation_p.G330S|CTCFL_uc010gjf.3_Missense_Mutation_p.G393S|CTCFL_uc010giu.3_Non-coding_Transcript|CTCFL_uc010giv.3_Non-coding_Transcript	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	598					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCCTTCTGACCCTTTGTGGCT	0.498000														103			52		0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19703292	19703292	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:19703292C>T	uc022asn.1	+	15	2094	c.1963C>T	c.(1963-1965)Caa>Taa	p.Q655*	INTS10_uc003wzj.3_Nonsense_Mutation_p.Q654*	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	654					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		ACTACCCAATCAAGGAATGCT	0.398000														52			15		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18753417	18753417	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:18753417G>A	uc003zne.4	+	15	2280	c.2128G>A	c.(2128-2130)Gag>Aag	p.E710K		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	710	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTGGCTGATGAGCTGTGTCG	0.567000														13			8		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212800	62212800	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:62212800G>A	uc003xuh.3	+	1	738	c.414G>A	c.(412-414)agG>agA	p.R138R	CLVS1_uc003xug.2_Silent_p.R138R|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	138	CRAL-TRIO.				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						ATTACGGCAGGAAGATTCTTT	0.448000														49			4		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181732562	181732562	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181732562C>T	uc009wxt.3	+	33	4905	c.4710C>T	c.(4708-4710)ttC>ttT	p.F1570F	CACNA1E_uc001gow.3_Silent_p.F1570F|CACNA1E_uc009wxs.3_Silent_p.F1551F|CACNA1E_uc001gox.1_Silent_p.F796F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1570					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						CCAGTGGCTTCAATATGAGCT	0.433000														79			7		0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112693694	112693694	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:112693694G>A	uc003dzj.1	-	0	244	c.11C>T	c.(10-12)cCt>cTt	p.P4L	CD200R1_uc003dzk.1_Missense_Mutation_p.P4L|CD200R1_uc011bhx.1_Missense_Mutation_p.P4L|CD200R1_uc003dzl.1_Missense_Mutation_p.P4L|CD200R1_uc003dzm.1_Missense_Mutation_p.P4L	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.	4					interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						AGTTCTCCAAGGGCAGAGCAT	0.463000														48			9		0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614802	247614802	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247614802G>A	uc010pyx.2	-	0	483	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCACCTGCACGAAGGAGTTGC	0.602000														40			9		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523833	24523833	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:24523833G>A	uc002wtw.1	+	1	733	c.100G>A	c.(100-102)Gag>Aag	p.E34K		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	34					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CTTGATGGCCGAGAGCAGAGA	0.552000														88			28		0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57348915	57348915	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57348915G>A	uc001smi.4	-	1	519	c.347C>T	c.(346-348)tCc>tTc	p.S116F	RDH16_uc009zpa.3_Intron	NM_003708	NP_003699	O75452	RDH16_HUMAN	Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA.	116					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CGTGGGCAAGGAGATGCCAGC	0.552000														24			18		0	0	1	0	0
AUH	549	broad.mit.edu	37	9	94123928	94123928	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:94123928G>A	uc004arf.4	-	0	279	c.244C>T	c.(244-246)Ctg>Ttg	p.L82L	AUH_uc004arg.4_Silent_p.L82L|AUH_uc011ltu.1_Silent_p.L82L	NM_001698	NP_001689	Q13825	AUHM_HUMAN	Homo sapiens AU RNA binding protein/enoyl-CoA hydratase (AUH), nuclear gene encoding mitochondrial protein, mRNA.	82					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|mRNA 3'-UTR binding|methylglutaconyl-CoA hydratase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TCCTCCTCCAGGTGCCGCACC	0.716000														12			3		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76712688	76712688	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:76712688G>A	uc003pik.1	-	11	1368	c.1238C>T	c.(1237-1239)cCt>cTt	p.P413L		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	413					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTCAACAGGAGGAAGTTCTGG	0.423000														38			11		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39230162	39230162	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:39230162C>T	uc003cjk.2	-	1	1004	c.775G>A	c.(775-777)Gag>Aag	p.E259K	XIRP1_uc003cji.3_Missense_Mutation_p.E259K|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.E259K	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	259							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)		TGGATCTCCTCCCGGCATGCG	0.622000														91			37		0	0	1	0	0
FCGR1A	2209	broad.mit.edu	37	1	149759987	149759987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:149759987C>T	uc001esp.4	+	3	423	c.373C>T	c.(373-375)Cat>Tat	p.H125Y	HIST2H2BF_uc010pbj.2_Intron|FCGR1A_uc009wlh.1_Non-coding_Transcript	NM_000566	NP_000557	P12314	FCGR1_HUMAN	Homo sapiens Fc fragment of IgG, high affinity Ia, receptor (CD64) (FCGR1A), mRNA.	125	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				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)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTTGAGGTGTCATGCGTGGAA	0.438000														123			10		0	0	1	0	0
Y00482	0	broad.mit.edu	37	7	38389232	38389232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:38389232C>T	uc022aca.1	-	1	257	c.78G>A	c.(76-78)acG>acA	p.T26T	LOC100506776_uc003tgp.2_Intron					SubName: Full=T-cell gamma protein; Flags: Fragment;																		TGACTGACTTCGTTCCCCCTT	0.453000														61			24		0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207528044	207528044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:207528044C>T	uc002vbr.1	-	10	1333	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	406						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GGAACCTTTTCAGTTGAAGAA	0.448000														60			22		0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160920888	160920888	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160920888C>T	uc001fxd.3	-	3	444	c.386G>A	c.(385-387)tGg>tAg	p.W129*	ITLN2_uc009wts.3_Nonsense_Mutation_p.W128*|ITLN2_uc010pju.2_Nonsense_Mutation_p.W46*	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	129	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTAGTTGGCCCAGTTGCCATC	0.582000														85			30		0	0	1	0	0
H2BFWT	158983	broad.mit.edu	37	X	103268164	103268164	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:103268164C>T	uc004elr.3	-	0	93	c.69G>A	c.(67-69)atG>atA	p.M23I		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA.	23					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGGCAGTGGCCATTAGATGGC	0.617000														13			13		0	0	1	0	0
C10orf28	27291	broad.mit.edu	37	10	99968552	99968552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:99968552C>T	uc001kox.4	+	4	1031	c.681C>T	c.(679-681)gtC>gtT	p.V227V	C10orf28_uc001kow.4_Silent_p.V227V|C10orf28_uc001koy.4_Silent_p.V227V|C10orf28_uc009xvx.3_Silent_p.V227V|C10orf28_uc009xvy.3_Intron|C10orf28_uc001koz.4_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	Homo sapiens chromosome 10 open reading frame 28 (C10orf28), mRNA.	227							nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)	20		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		TTAGTTCTGTCATGAAACCTG	0.353000														59			33		0	0	1	0	0
WNT1	7471	broad.mit.edu	37	12	49373260	49373260	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49373260G>A	uc001rsu.3	+	1	312	c.114G>A	c.(112-114)gtG>gtA	p.V38V		NM_005430	NP_005421	P04628	WNT1_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 1 (WNT1), mRNA.	38					Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of DNA damage checkpoint|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of Notch signaling pathway|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		GGGGTATTGTGAACGTAGCCT	0.567000														101			44		0	0	1	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6948775	6948775	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrY:6948775C>T	uc004frb.3	+	13	1605	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S	TBL1Y_uc004frc.3_Missense_Mutation_p.P320S|TBL1Y_uc004frd.3_Missense_Mutation_p.P320S|TBL1Y_uc011nap.2_Missense_Mutation_p.P162S	NM_033284	NP_599021	Q9BQ87	TBL1Y_HUMAN	Homo sapiens transducin (beta)-like 1, Y-linked (TBL1Y), transcript variant 1, mRNA.	320					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						TGCTGCAGCCCCCGCCCTTGA	0.507000														21			28		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10092766	10092766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10092766C>T	uc002mmq.1	-	31	2521	c.2435G>A	c.(2434-2436)gGa>gAa	p.G812E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	812	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)			TCCTATGGGTCCCAGGGGACC	0.537000														45			15		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113403696	113403696	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113403696C>T	uc001tug.3	+	11	2638	c.2551C>T	c.(2551-2553)Caa>Taa	p.Q851*		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	851	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GGAGGCATGTCAACAGGAGCG	0.582000														20			6		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119451284	119451284	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:119451284G>A	uc003ede.4	+	8	1239	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N	C3orf15_uc010hqy.2_Missense_Mutation_p.D388N|C3orf15_uc010hqz.3_Missense_Mutation_p.D326N|C3orf15_uc011bjd.2_Missense_Mutation_p.D262N|C3orf15_uc011bje.2_Missense_Mutation_p.D368N|C3orf15_uc010hra.2_Missense_Mutation_p.D149N	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	0						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		CAACTCAGAGGACTTTGTAGT	0.358000														42			15		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73464826	73464826	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73464826G>A	uc001jrx.4	+	23	3276	c.2886G>A	c.(2884-2886)cgG>cgA	p.R962R	CDH23_uc001jry.3_Silent_p.R962R|CDH23_uc001jrz.3_Silent_p.R962R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	964	Cadherin 9.				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						ACCAGCTGCGGGTGGTGGCCA	0.662000														49			21		0	0	1	0	0
C11orf88	399949	broad.mit.edu	37	11	111385654	111385654	+	Missense_Mutation	SNP	C	T	T	rs4418847		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:111385654C>T	uc009yyd.3	+	0	145	c.145C>T	c.(145-147)Cct>Tct	p.P49S	BTG4_uc001plj.3_5'Flank|BTG4_uc001plk.3_5'Flank|C11orf88_uc001plo.1_Missense_Mutation_p.P49S|C11orf88_uc001pln.4_Missense_Mutation_p.P49S	NM_207430	NP_997313	Q6PI97	CK088_HUMAN	Homo sapiens chromosome 11 open reading frame 88 (C11orf88), transcript variant 1, mRNA.	49										endometrium(1)|large_intestine(3)|lung(2)	6						GATGTATCCCCCTAGCGAATC	0.597000											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		78			17		0	0	1	0	0
CDA	978	broad.mit.edu	37	1	20915652	20915652	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:20915652G>A	uc001bdk.3	+	0	209	c.30G>A	c.(28-30)ctG>ctA	p.L10L	CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	NM_001785	NP_001776	P32320	CDD_HUMAN	Homo sapiens cytidine deaminase (CDA), mRNA.	10					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	CCTGCACCCTGAAGCCTGAGT	0.652000														72			13		0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518107	108518107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:108518107C>T	uc001vql.3	-	0	1354	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	280						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCAAACTCTTCGTATTTCTCC	0.527000														82			41		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451950	19451950	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19451950C>T	uc002dgc.4	+	2	1339	c.590C>T	c.(589-591)cCa>cTa	p.P197L	TMC5_uc010vaq.2_Missense_Mutation_p.P197L|TMC5_uc002dgb.4_Missense_Mutation_p.P197L|TMC5_uc010var.2_Missense_Mutation_p.P197L	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	197						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						AGAATCAATCCATACGCAGAC	0.488000														112			19		0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132826487	132826487	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:132826487A>G	uc010nrn.2	-	5	1468	c.1271T>C	c.(1270-1272)tTc>tCc	p.F424S	GPC3_uc004exe.2_Missense_Mutation_p.F401S|GPC3_uc011mvh.2_Missense_Mutation_p.F385S|GPC3_uc010nro.2_Missense_Mutation_p.F347S|GPC3_uc010nrp.2_Missense_Mutation_p.F273S	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	401						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGCACTATAGAAGCTGATGAA	0.413000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					31			41		0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2995949	2995949	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:2995949G>A	uc010vrb.2	-	0	342	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	114					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TCACAGCCAGGATGAGGTTGT	0.542000														65			52		0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043180	56043180	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56043180C>T	uc001nio.1	+	0	66	c.66C>T	c.(64-66)acC>acT	p.T22T		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTGAAGTCACCATGTTTATAT	0.299000														148			28		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12445349	12445349	+	Missense_Mutation	SNP	C	T	T	rs147684777		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12445349C>T	uc001atv.3	+	58	11542	c.11401C>T	c.(11401-11403)Cgt>Tgt	p.R3801C	VPS13D_uc001atw.3_Missense_Mutation_p.R3776C|VPS13D_uc001atx.3_Missense_Mutation_p.R2988C|VPS13D_uc009vnl.3_Non-coding_Transcript	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3800					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAAAGCAGCCGTTCATATGA	0.393000														66			5		0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102270432	102270432	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:102270432G>A	uc001duf.2	-	5	870	c.799C>T	c.(799-801)Cgt>Tgt	p.R267C	OLFM3_uc001dug.2_Missense_Mutation_p.R247C|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Missense_Mutation_p.R172C|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	267	Olfactomedin-like.					extracellular region		p.R267S(1)|p.R247S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TTGTATTCACGAACAATTTTA	0.378000														68			30		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88258513	88258513	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:88258513C>T	uc001pcq.3	-	7	2890	c.2690G>A	c.(2689-2691)gGg>gAg	p.G897E	GRM5_uc009yvm.3_Intron	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	897					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CCCCATACTCCCTTTGGGGGT	0.483000														304			116		0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71191790	71191790	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:71191790C>T	uc003pfj.3	+	7	889	c.756C>T	c.(754-756)ttC>ttT	p.F252F	FAM135A_uc003pfi.3_Silent_p.F252F|FAM135A_uc003pfh.3_Silent_p.F209F|FAM135A_uc003pfk.3_Silent_p.F252F|FAM135A_uc003pfl.3_Silent_p.F89F|FAM135A_uc003pfm.1_5'UTR	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	252										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TGCTAGCCTTCAAGGGATTGC	0.393000														62			30		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91805699	91805699	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:91805699G>A	uc010aty.3	-	7	886	c.732C>T	c.(730-732)ctC>ctT	p.L244L	CCDC88C_uc010twk.1_Silent_p.L208L	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	244					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTTCGCTAGAGAGGCTGCTGG	0.657000														27			7		0	0	1	0	0
SPATA19	219938	broad.mit.edu	37	11	133714162	133714162	+	Missense_Mutation	SNP	C	T	T	rs138223153		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:133714162C>T	uc001qgv.1	-	3	389	c.338G>A	c.(337-339)cGa>cAa	p.R113Q		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA.	113					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GAACTGGATTCGTGTTCTCTC	0.537000														95			30		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16910772	16910772	+	Missense_Mutation	SNP	C	T	T	rs140495987		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16910772C>T	uc002neu.4	+	16	3957	c.3535C>T	c.(3535-3537)Cgc>Tgc	p.R1179C	NWD1_uc002net.4_Missense_Mutation_p.R1044C|NWD1_uc002nev.4_Missense_Mutation_p.R973C|NWD1_uc021uqg.1_Missense_Mutation_p.R1044C	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1179							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						CCTGCTGGCCCGCGGCGGGGC	0.622000														63			17		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30830929	30830929	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:30830929C>T	uc003tbt.3	+	4	889	c.812C>T	c.(811-813)tCc>tTc	p.S271F	FAM188B_uc010kwe.3_Missense_Mutation_p.S242F	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	271										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCAGGACCTCCCTGGGTCAG	0.607000														74			39		0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3030524	3030524	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:3030524G>A	uc022brz.1	+	10	1836	c.1700G>A	c.(1699-1701)gGg>gAg	p.G567E	ARSF_uc004cre.2_Missense_Mutation_p.G567E|ARSF_uc004crf.2_Missense_Mutation_p.G567E	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	567						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTTGCTGTGGGGTGTTCCCA	0.532000														15			26		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157414071	157414071	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:157414071G>A	uc003wno.3	-	14	2448	c.2327C>T	c.(2326-2328)tCc>tTc	p.S776F	PTPRN2_uc003wnp.3_Missense_Mutation_p.S759F|PTPRN2_uc003wnq.3_Missense_Mutation_p.S747F|PTPRN2_uc003wnr.3_Missense_Mutation_p.S738F|PTPRN2_uc011kwa.2_Missense_Mutation_p.S799F	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	776	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CACGGCCAGGGAGCGGTTCTT	0.662000														207			75		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485261	97485261	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:97485261G>A	uc001vmw.3	+	1	1249	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	409						integral to membrane	sulfotransferase activity	p.E409D(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GCAGCTTTACGAGTATGCAAA	0.572000														98			38		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14806731	14806731	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14806731G>A	uc003zlm.3	-	18	4018	c.3202C>T	c.(3202-3204)Cct>Tct	p.P1068S	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1068					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAAACTGAGGAGGAGAAACC	0.448000														14			3		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151167023	151167023	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151167023G>A	uc011bod.2	-	3	746	c.746C>T	c.(745-747)cCc>cTc	p.P249L		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	249	LRRCT.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCACTAGAGGGACTTCTATC	0.398000														63			29		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830199	13830199	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13830199G>A	uc003jfd.2	-	36	6227	c.6185C>T	c.(6184-6186)tCt>tTt	p.S2062F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2062	AAA 1 (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)					AAAGATAAAAGACTTTTTGTG	0.383000									Kartagener syndrome					56			13		0	0	1	0	0
KLHL10	317719	broad.mit.edu	37	17	40001727	40001727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:40001727G>A	uc010cxr.3	+	2	1176	c.1034G>A	c.(1033-1035)gGg>gAg	p.G345E	KLHL10_uc010wfv.1_Missense_Mutation_p.G339E|KLHL10_uc010wfw.2_Missense_Mutation_p.G257E	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	Homo sapiens kelch-like 10 (Drosophila) (KLHL10), mRNA.	345						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TATATCATTGGGGGGTTTGAT	0.488000														81			7		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582564	136582564	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:136582564G>A	uc003qgx.1	-	11	2849	c.2596C>T	c.(2596-2598)Cgt>Tgt	p.R866C	BCLAF1_uc011edb.1_Missense_Mutation_p.R145C|BCLAF1_uc003qgy.1_Missense_Mutation_p.R815C|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R864C|BCLAF1_uc003qgw.1_Missense_Mutation_p.R693C	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	866					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAAGTACCACGACCTCTTCCT	0.408000														310			55		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76450701	76450701	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76450701G>A	uc010dhp.2	-	63	10382	c.10257C>T	c.(10255-10257)ctC>ctT	p.L3419L	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTCGCTGGGGAGGCCCTGGT	0.642000														43			25		0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155150523	155150523	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155150523G>A	uc001fhs.1	+	5	1038	c.955G>A	c.(955-957)Ggg>Agg	p.G319R	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.G319R|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.G193R|TRIM46_uc001fhu.1_Missense_Mutation_p.G296R|TRIM46_uc009wpg.1_Missense_Mutation_p.G306R|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	319						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGTGCGGGGGCTGGGGGC	0.617000														39			19		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698514	96698514	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96698514G>A	uc001kka.4	+	0	100	c.75G>A	c.(73-75)ggG>ggA	p.G25G	CYP2C9_uc009xut.3_Silent_p.G25G|CYP2C9_uc001kjz.3_Silent_p.G25G	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	25					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGAGCTCTGGGAGAGGAAAAC	0.453000														184			12		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42414957	42414957	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:42414957C>T	uc003gwr.2	-	36	3703	c.3471G>A	c.(3469-3471)acG>acA	p.T1157T	ATP8A1_uc003gwq.2_Silent_p.T383T|ATP8A1_uc003gws.2_Silent_p.T1142T|ATP8A1_uc021xnv.1_5'Flank	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	1157					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.T1157T(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCCTCTGTTTCGTGGTATCAT	0.458000														46			17		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184103895	184103895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:184103895C>T	uc003fov.3	+	14	2126	c.1880C>T	c.(1879-1881)gCc>gTc	p.A627V	CHRD_uc003fow.3_Missense_Mutation_p.A257V|CHRD_uc003fox.3_Missense_Mutation_p.A627V|CHRD_uc003foy.3_Missense_Mutation_p.A257V|CHRD_uc010hyc.3_Missense_Mutation_p.A217V|CHRD_uc011brr.2_Missense_Mutation_p.A257V	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	627	CHRD 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAAGGCATGGCCTCCCTGATG	0.617000														80			29		0	0	1	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293708	71293708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:71293708G>A	uc001oqu.3	-	0	214	c.176C>T	c.(175-177)tCc>tTc	p.S59F		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA.	59	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCCCCCACAGGAGCCACAGCT	0.632000														261			18		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106865267	106865267	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106865267C>T	uc001kyi.1	+	6	1433	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	402						integral to membrane	neuropeptide receptor activity	p.I401T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AATATATCTTCATTCAGGTGA	0.502000														128			35		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102175092	102175092	+	Missense_Mutation	SNP	G	A	A	rs149996665		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:102175092G>A	uc003dvt.1	+	3	531	c.431G>A	c.(430-432)gGa>gAa	p.G144E	ZPLD1_uc003dvs.1_Missense_Mutation_p.G128E|ZPLD1_uc011bhg.1_Missense_Mutation_p.G128E	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	128	ZP.					integral to membrane		p.G144E(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GTGCAAGTAGGAAATATTTCA	0.358000														102			48		0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54963357	54963357	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54963357C>T	uc002qfv.1	+	2	270	c.126C>T	c.(124-126)gcC>gcT	p.A42A	LENG8_uc002qfw.2_Silent_p.A42A			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	42							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGGAGAAGGCCCGTCAGGCCC	0.637000														79			26		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141497337	141497337	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:141497337C>T	uc011bnd.2	+	0	295	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	71	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CCGCCTCTTCCGTGACTTCCT	0.662000														22			15		0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112720813	112720813	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:112720813G>A	uc003kql.4	-	1	683	c.267C>T	c.(265-267)tcC>tcT	p.S89S	MCC_uc003kqk.4_Non-coding_Transcript	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	0					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.V88I(2)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AATCCTGAAAGGAAATCTTCC	0.448000														104			45		0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41003708	41003708	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:41003708G>A	uc002ibv.3	+	0	508	c.348G>A	c.(346-348)ggG>ggA	p.G116G		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	116					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.G116R(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TGGACAGGGGGAGCCCCCCAC	0.667000														31			22		0	0	1	0	0
C6orf162	57150	broad.mit.edu	37	6	88046769	88046769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:88046769C>T	uc003plp.1	+	2	109	c.20C>T	c.(19-21)cCt>cTt	p.P7L	C6orf162_uc021zck.1_Non-coding_Transcript|C6orf162_uc003plq.1_Missense_Mutation_p.P7L	NM_001042493	NP_065158	Q96KF7	CF162_HUMAN	Homo sapiens chromosome 6 open reading frame 162 (C6orf162), transcript variant 1, mRNA.	7						integral to membrane				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0164)		GCACCTGAGCCTCCAACATTC	0.383000														66			16		0	0	1	0	0
IFIT1B	439996	broad.mit.edu	37	10	91143629	91143629	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:91143629C>T	uc001kgh.3	+	1	639	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA.	187							binding			endometrium(2)|large_intestine(3)|lung(8)	13						CACCGTCTATCGCCTGGATAA	0.438000														229			110		0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9623815	9623815	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:9623815T>G	uc003wss.3	+	24	3625	c.3620T>G	c.(3619-3621)aTg>aGg	p.M1207R	TNKS_uc011kww.2_Missense_Mutation_p.M970R	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	1207	PARP catalytic.				Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.G1206R(1)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATAGGAGGAATGTTTGGGGCC	0.408000														117			52		0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14752260	14752260	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:14752260G>A	uc002mzi.4	-	9	1367	c.1219C>T	c.(1219-1221)Ctc>Ttc	p.L407F	EMR3_uc010dzp.3_Missense_Mutation_p.L355F|EMR3_uc010xnv.2_Missense_Mutation_p.L281F	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	407					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						ATCCCCACGAGGAAGAGGAGG	0.567000														74			20		0	0	1	0	0
RIOK3	8780	broad.mit.edu	37	18	21044179	21044179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:21044179C>T	uc002kui.4	+	3	952	c.335C>T	c.(334-336)tCc>tTc	p.S112F	RIOK3_uc010dls.3_Missense_Mutation_p.S112F|RIOK3_uc010xas.2_Missense_Mutation_p.S96F|RIOK3_uc010xat.2_5'Flank	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	112					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTTTCCATTTCCTTTGAAAAT	0.373000														42			9		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124402853	124402853	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124402853A>G	uc001lgk.1	+	52	7287	c.7181A>G	c.(7180-7182)gAc>gGc	p.D2394G	DMBT1_uc001lgl.1_Missense_Mutation_p.D2384G|DMBT1_uc001lgm.1_Missense_Mutation_p.D1766G|DMBT1_uc021qaf.1_Missense_Mutation_p.D2394G|DMBT1_uc021qag.1_Missense_Mutation_p.D2384G|DMBT1_uc021qah.1_Missense_Mutation_p.D1766G|DMBT1_uc009xzz.1_Missense_Mutation_p.D2393G|DMBT1_uc010qtx.1_Missense_Mutation_p.D1114G|DMBT1_uc009yab.1_Missense_Mutation_p.D1097G|DMBT1_uc009yac.1_Missense_Mutation_p.D688G	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2394					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GAAAAGGTGGACGTCGTCCTG	0.627000														42			21		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137681046	137681046	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:137681046G>A	uc004cfe.3	+	31	3074	c.2692G>A	c.(2692-2694)Ggc>Agc	p.G898S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	898	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGGAGAGAAGGGCGGCAGGGT	0.572000														22			15		0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29493334	29493334	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29493334G>A	uc002kxc.4	-	4	1133	c.769C>T	c.(769-771)Cag>Tag	p.Q257*	TRAPPC8_uc002kxb.4_Nonsense_Mutation_p.Q203*|TRAPPC8_uc002kxd.4_Non-coding_Transcript|TRAPPC8_uc021uio.1_Nonsense_Mutation_p.Q257*|TRAPPC8_uc002kxe.2_Nonsense_Mutation_p.Q257*	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	257					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACATATACCTGGTTTTGAATA	0.294000														61			8		0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74708868	74708868	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:74708868G>A	uc002fdb.2	-	9	1812	c.1371C>T	c.(1369-1371)ccC>ccT	p.P457P	MLKL_uc002fdc.2_Silent_p.P249P	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	457	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CATCCACAGAGGGCCGCACAG	0.542000														55			24		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13823467	13823467	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13823467C>T	uc003jfd.2	-	39	6634	c.6592G>A	c.(6592-6594)Gaa>Aaa	p.E2198K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2198					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)					AACAAGGGTTCATCCTCATCA	0.368000									Kartagener syndrome					89			27		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64675261	64675261	+	Silent	SNP	G	A	A	rs112442396		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64675261G>A	uc001obx.3	-	16	2581	c.2466C>T	c.(2464-2466)atC>atT	p.I822I		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	822							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGGGCAGAAAGATGTGGACAC	0.632000														24			7		0	0	1	0	0
GLS2	27165	broad.mit.edu	37	12	56868895	56868895	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56868895C>T	uc001slj.3	-	10	1209	c.930_splice	c.e10-1	p.T310_splice	GLS2_uc021qzb.1_Splice_Site_p.T273_splice|GLS2_uc021qzc.1_Intron|GLS2_uc021qzd.1_Splice_Site_p.T45_splice|GLS2_uc009zos.3_Non-coding_Transcript|GLS2_uc001slk.3_Splice_Site_p.T45_splice|GLS2_uc009zot.3_Intron	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	Homo sapiens glutaminase 2 (liver, mitochondrial) (GLS2), nuclear gene encoding mitochondrial protein, mRNA.	310					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGACTGGAATCTGAAGCAAAC	0.468000														133			66		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57437748	57437748	+	Nonsense_Mutation	SNP	G	A	A	rs138607619		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57437748G>A	uc001smw.4	-	9	1024	c.784C>T	c.(784-786)Cga>Tga	p.R262*	MYO1A_uc010sqz.2_Nonsense_Mutation_p.R100*|MYO1A_uc009zpd.3_Nonsense_Mutation_p.R262*	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	262	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGCACTTGTCGAATCTCCTCC	0.517000														66			29		0	0	1	0	0
LHFPL4	375323	broad.mit.edu	37	3	9547825	9547825	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:9547825C>T	uc003bry.3	-	2	755	c.469G>A	c.(469-471)Gac>Aac	p.D157N		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	157						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CCACACATGTCCCGGATGGTC	0.632000														84			10		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67555523	67555523	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:67555523G>A	uc002aqo.2	+	2	335	c.238G>A	c.(238-240)Gag>Aag	p.E80K	IQCH_uc010ujv.2_5'UTR|IQCH_uc002aqn.2_Intron|IQCH_uc002aqp.2_Intron|IQCH_uc002aqq.2_Intron|IQCH_uc002aqm.3_Missense_Mutation_p.E80K	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	80										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TGTTAATGATGAGAGCTTATA	0.323000														77			19		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326351	152326351	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152326351C>T	uc001ezw.4	-	2	3984	c.3911G>A	c.(3910-3912)gGa>gAa	p.G1304E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1304							calcium ion binding|structural molecule activity	p.G1304A(2)		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)			AACTGTGGATCCTGACTTTGG	0.478000														287			68		0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123333775	123333775	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:123333775G>A	uc003ieo.3	+	9	1292	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	ADAD1_uc003iep.3_Missense_Mutation_p.E343K|ADAD1_uc003ieq.3_Missense_Mutation_p.E336K	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	354	A to I editase.				RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGAAGCCAATGAAGAACTCTG	0.358000														175			17		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125094666	125094666	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:125094666G>A	uc003yqw.3	+	32	4564	c.4358G>A	c.(4357-4359)cGa>cAa	p.R1453Q	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1453						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGCAAACACCGAGCCATCTGT	0.498000														122			70		0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178562106	178562106	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:178562106G>A	uc002ulq.3	-	14	2617	c.2299C>T	c.(2299-2301)Ctt>Ttt	p.L767F	PDE11A_uc002ulp.3_Missense_Mutation_p.L323F|PDE11A_uc002ulr.3_Missense_Mutation_p.L517F|PDE11A_uc002uls.1_Missense_Mutation_p.L409F|PDE11A_uc002ult.1_Missense_Mutation_p.L517F|PDE11A_uc002ulu.1_Missense_Mutation_p.L409F	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	767	Catalytic (By similarity).				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)			TGCTTCAAAAGCTGCATAAGG	0.383000									Primary Pigmented Nodular Adrenocortical Disease, Familial					90			15		0	0	1	0	0
CDK9	1025	broad.mit.edu	37	9	130550648	130550648	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130550648C>T	uc004bse.2	+	4	711	c.588C>T	c.(586-588)ccC>ccT	p.P196P		NM_001261	NP_001252	P50750	CDK9_HUMAN	Homo sapiens cyclin-dependent kinase 9 (CDK9), mRNA.	196	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|DNA binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						GGTACCGGCCCCCGGAGCTGT	0.667000														17			6		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184104544	184104544	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:184104544G>A	uc003fov.3	+	16	2442	c.2196_splice	c.e16+1	p.Q732_splice	CHRD_uc003fow.3_Splice_Site_p.Q362_splice|CHRD_uc003fox.3_Splice_Site_p.Q732_splice|CHRD_uc003foy.3_Splice_Site_p.Q362_splice|CHRD_uc010hyc.3_Splice_Site_p.Q322_splice|CHRD_uc011brr.2_Intron	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	732	VWFC 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACCTGCCAGGTAGGAGGTCC	0.657000														10			4		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128324336	128324337	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:128324336_128324337GG>AA	uc003kuy.3	+	3	1125_1126	c.729_730GG>AA	c.(727-732)aggggt>agAAgt	p.G244S	SLC27A6_uc003kuz.3_Missense_Mutation_p.G244S	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	244					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGGTTTTAAGGGGTTCTGCTGT	0.396000														126			53		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543152	133543152	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:133543152C>T	uc002ttp.3	-	13	1606	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	411							protein binding	p.R411*(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TAACACTTTTCGCTTCTGTAG	0.413000														55			27		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79343107	79343107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:79343107C>T	uc003hlb.2	+	33	5071	c.4631C>T	c.(4630-4632)cCc>cTc	p.P1544L	FRAS1_uc003hkw.3_Missense_Mutation_p.P1544L|FRAS1_uc010ijj.2_Intron	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1543					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TACCGCCCTCCCCCGGCAGCA	0.572000														144			61		0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282416	59282416	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59282416G>A	uc010rkv.2	+	0	31	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CAGAGTGAAAGAATTTACCTT	0.378000														111			48		0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37414539	37414539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:37414539C>T	uc002rpu.3	-	1	178	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	SULT6B1_uc010yni.2_Non-coding_Transcript	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA.	91						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				ACTGGGAATTCTGGATATTTA	0.323000														62			7		0	0	1	0	0
SRSF6	6431	broad.mit.edu	37	20	42088473	42088473	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42088473C>T	uc010zwg.2	+	2	489	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	SRSF6_uc002xki.3_5'UTR	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	Homo sapiens serine/arginine-rich splicing factor 6 (SRSF6), transcript variant 1, mRNA.	107					mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding	p.R107C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						ACCACCTGTTCGTACAGAATA	0.393000														111			37		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10933857	10933857	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:10933857C>T	uc002yip.1	-	16	1390	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.G323D|TPTE_uc002yir.1_Missense_Mutation_p.G303D|TPTE_uc010gkv.1_Missense_Mutation_p.G203D	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	341	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		ATTACCTGTGCCTCCTTTACA	0.328000														281			23		0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56681165	56681165	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:56681165A>G	uc003did.4	-	13	1701	c.1600T>C	c.(1600-1602)Tct>Cct	p.S534P	FAM208A_uc003dic.4_Missense_Mutation_p.S138P|FAM208A_uc003die.4_Missense_Mutation_p.S534P	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	Homo sapiens family with sequence similarity 208, member A (FAM208A), transcript variant 2, mRNA.	534										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TGAATCAAAGAAAATTGTAAA	0.338000														88			25		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140397412	140397412	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:140397412C>T	uc003eto.2	+	1	547	c.341_splice	c.e1+1	p.S114_splice		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	114						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATCCATACCTCGTAAGTGCCA	0.562000														18			8		0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12983267	12983267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:12983267G>A	uc003bxt.2	-	1	173	c.164C>T	c.(163-165)cCg>cTg	p.P55L	IQSEC1_uc003bxu.3_5'UTR|IQSEC1_uc011auw.1_Missense_Mutation_p.P41L	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	55					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTAGTGATCCGGGCTCAGGCT	0.697000														24			9		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196965187	196965187	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:196965187G>A	uc001gts.4	+	5	954	c.826G>A	c.(826-828)Gag>Aag	p.E276K		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	276	Sushi 5.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACCTGAACTCGAGTACGGTTA	0.348000														114			37		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41608021	41608021	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:41608021G>A	uc003gvz.4	+	4	426	c.9_splice	c.e4+1	p.K3_splice	LIMCH1_uc003gvt.1_Splice_Site_p.K3_splice|LIMCH1_uc003gwe.4_Splice_Site_p.K162_splice|LIMCH1_uc003gvu.4_Splice_Site_p.K162_splice|LIMCH1_uc003gvv.4_Splice_Site_p.K162_splice|LIMCH1_uc003gvw.4_Splice_Site_p.K162_splice|LIMCH1_uc003gvx.4_Splice_Site_p.K162_splice|LIMCH1_uc003gvy.4_Splice_Site_p.K3_splice|LIMCH1_uc003gwa.4_Splice_Site_p.K3_splice	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	162					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AGATGCGAAAGGTAACTTGGC	0.433000														31			10		0	0	1	0	0
ZDHHC11	79844	broad.mit.edu	37	5	843767	843767	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:843767G>A	uc011cma.1	-	3	960	c.576C>T	c.(574-576)ctC>ctT	p.L192L	ZDHHC11_uc010itd.1_5'Flank|ZDHHC11_uc003jbk.3_5'UTR	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.	192						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GGTACTGGACGAGGACATACA	0.647000														37			9		0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	31144214	31144214	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:31144214C>T	uc021xnd.1	+	2	4519	c.3511C>T	c.(3511-3513)Cag>Tag	p.Q1171*	PCDH7_uc011bxx.2_Nonsense_Mutation_p.Q1163*	NM_001173523	NP_001166994	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant d, mRNA.	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.E1170*(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GAAGAAGAGCCAGCCTAAACT	0.562000														119			48		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934929	28934929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28934929G>A	uc002kwp.3	+	14	2982	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K	DSG1_uc010xbp.2_Missense_Mutation_p.E283K	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	924					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)			GGTAGTGACAGAAAGAGTAAT	0.453000														185			48		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93104332	93104332	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:93104332C>T	uc001pdq.3	+	6	775	c.675C>T	c.(673-675)ttC>ttT	p.F225F	CCDC67_uc001pdo.1_Silent_p.F225F|CCDC67_uc001pdp.3_Silent_p.F225F	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	225										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GAGATGAGTTCATTATTGAAA	0.348000														19			10		0	0	1	0	0
GALNT3	2591	broad.mit.edu	37	2	166611219	166611219	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166611219G>T	uc010fph.1	-	8	1931	c.1544C>A	c.(1543-1545)cCt>cAt	p.P515H		NM_004482	NP_004473	Q14435	GALT3_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.	515	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CAGACATAGAGGCTGACCAAC	0.313000														18			7		8.12818e-05	8.13908e-05	1	1	0
MARCH10	162333	broad.mit.edu	37	17	60814507	60814507	+	Missense_Mutation	SNP	C	T	T	rs17853369		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:60814507C>T	uc010dds.3	-	6	1121	c.836G>A	c.(835-837)gGa>gAa	p.G279E	MARCH10_uc010ddr.3_Missense_Mutation_p.G241E|MARCH10_uc002jag.4_Missense_Mutation_p.G241E|MARCH10_uc002jah.2_Missense_Mutation_p.G240E|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	241							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ACTATTTTTTCCTTGGAAGGC	0.532000														127			48		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87969864	87969864	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:87969864C>T	uc003plm.4	+	7	6558	c.6517C>T	c.(6517-6519)Cga>Tga	p.R2173*		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAAAGAATTTCGATGTCAGGT	0.368000														112			60		0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29630153	29630153	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:29630153G>A	uc003aem.3	+	10	1069	c.994G>A	c.(994-996)Gga>Aga	p.G332R	EMID1_uc003aen.3_Missense_Mutation_p.G330R|EMID1_uc021wnr.1_Missense_Mutation_p.G29R	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	Homo sapiens EMI domain containing 1 (EMID1), mRNA.	330	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TGGACCCAAAGGAATCTCTGG	0.642000														12			5		0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44102413	44102413	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:44102413C>T	uc002rtq.3	+	10	1707	c.1617C>T	c.(1615-1617)gtC>gtT	p.V539V	ABCG8_uc010yoa.2_Silent_p.V538V	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	539	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.V538G(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGCTGGTGGTCTTCTGTTGCA	0.612000														95			13		0	0	1	0	0
IL11	3589	broad.mit.edu	37	19	55879603	55879603	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55879603C>T	uc002qks.1	-	3	540	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	IL11_uc010yfx.1_Missense_Mutation_p.R56Q	NM_000641	NP_000632	P20809	IL11_HUMAN	Homo sapiens interleukin 11 (IL11), mRNA.	135					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)	GCGCAGCAGCCGGTCCAGTCG	0.687000														2			3		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400660	85400661	+	Silent	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:85400660_85400661CC>TT	uc002ble.3	+	5	3464_3465	c.3297_3298CC>TT	c.(3295-3300)ttcctg>ttTTtg	p.1099_1100FL>FL		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1099					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)			CAGCCACCTTCCTGCCCTCTGA	0.624000														76			22		0	0	1	0	0
STAC3	246329	broad.mit.edu	37	12	57643365	57643365	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57643365G>A	uc001snp.2	-	1	257	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	R3HDM2_uc010srn.1_Non-coding_Transcript|STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Intron|STAC3_uc010srm.1_Intron	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	Homo sapiens SH3 and cysteine rich domain 3 (STAC3), mRNA.	19					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CCACTTTGCCGAGTCTCTGCT	0.522000														67			27		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34493208	34493208	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:34493208C>T	uc003zum.3	+	8	891	c.698C>T	c.(697-699)gCc>gTc	p.A233V		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	233					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		ATCTATGATGCCTATGTAGAG	0.453000									Kartagener syndrome					91			16		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57399115	57399115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57399115G>A	uc001cyp.3	-	9	1512	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	C8B_uc010oon.2_Missense_Mutation_p.S420F|C8B_uc010ooo.2_Missense_Mutation_p.S430F	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	482	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CACTGTGCTGGAATAGGCAAA	0.473000														45			18		0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50658827	50658827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50658827G>A	uc003bkb.1	-	15	4473	c.3961C>T	c.(3961-3963)Ctg>Ttg	p.L1321L	TUBGCP6_uc003bka.1_Silent_p.L408L|TUBGCP6_uc010har.1_Silent_p.L1313L|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1321					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)		TCTACAGGCAGCCGTGGCCCA	0.682000														33			11		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128362842	128362842	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:128362842C>T	uc003kuy.3	+	7	1668	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L	SLC27A6_uc003kuz.3_Silent_p.L424L	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	424					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CTGGACTTCTCATTTCTCGAG	0.378000														92			40		0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5344952	5344952	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5344952G>A	uc001mao.1	-	0	631	c.576C>T	c.(574-576)ttC>ttT	p.F192F	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.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F192L(2)		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)		AAAGTCTATTGAAAGTTATGT	0.363000														46			20		0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114261086	114261086	+	Silent	SNP	G	A	A	rs140794490		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:114261086G>A	uc009zwi.2	-	23	2970	c.2826C>T	c.(2824-2826)atC>atT	p.I942I	RBM19_uc001tvn.4_Silent_p.I942I|RBM19_uc001tvm.3_Silent_p.I942I	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	942					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCTGCTCCAGGATCTCGTCCA	0.632000														55			8		0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65715015	65715015	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65715015G>A	uc001ogk.1	+	3	748	c.716G>A	c.(715-717)aGg>aAg	p.R239K	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	240										endometrium(2)|kidney(3)|lung(9)	14						CGCCCCAGGAGGGGGTCGATC	0.632000														43			16		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878721	24878721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24878721G>A	uc001wpf.4	+	3	2039	c.1721G>A	c.(1720-1722)cGa>cAa	p.R574Q		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	574					DNA integration	integral to membrane	DNA binding	p.R574*(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTACATCTCGAATGATGCTG	0.527000														23			8		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19571806	19571806	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:19571806C>T	uc003jgd.3	-	7	1669	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	CDH18_uc011cnm.2_Missense_Mutation_p.E379K|CDH18_uc003jgc.3_Missense_Mutation_p.E379K|CDH18_uc021xwu.1_Missense_Mutation_p.E379K	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	379	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGTGGTGGTTCATCTACATCC	0.428000														69			19		0	0	1	0	0
CELF5	60680	broad.mit.edu	37	19	3284932	3284932	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3284932C>T	uc002lxm.3	+	8	1109	c.1072C>T	c.(1072-1074)Cct>Tct	p.P358S	CELF5_uc010dtj.2_Missense_Mutation_p.P333S|CELF5_uc002lxl.2_Missense_Mutation_p.P358S|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	358					mRNA processing	cytoplasm|nucleus	RNA binding|nucleotide binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GACACTGCATCCTGCCTTCTC	0.711000														21			3		0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588857	72588857	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72588857C>T	uc002jla.1	+	2	1034	c.672C>T	c.(670-672)tcC>tcT	p.S224S	CD300LD_uc002jkz.2_5'Flank|C17orf77_uc021ucq.1_Silent_p.S224S	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA.	224						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TTGCCTCTTCCTGCCCTGGGC	0.572000														73			23		0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109271457	109271457	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:109271457G>A	uc001dvx.3	+	7	1573	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K	FNDC7_uc010ova.2_Missense_Mutation_p.E292K	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	526	Fibronectin type-III 6.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TGCTGTGGCCGAAACACAGGC	0.577000														52			24		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16126970	16126970	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:16126970C>T	uc010bvi.3	+	5	795	c.620C>T	c.(619-621)cCc>cTc	p.P207L	ABCC1_uc010bvj.3_Missense_Mutation_p.P207L|ABCC1_uc010bvk.3_Missense_Mutation_p.P207L|ABCC1_uc010bvl.3_Missense_Mutation_p.P207L|ABCC1_uc010bvm.3_Missense_Mutation_p.P207L|ABCC1_uc002del.4_Missense_Mutation_p.P91L|ABCC1_uc010bvn.3_Missense_Mutation_p.P70L	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	207					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CACTAGAATCCCTGCCCAGAG	0.547000														67			15		0	0	1	0	0
BTBD17	388419	broad.mit.edu	37	17	72356361	72356361	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72356361C>T	uc002jkn.2	-	1	109	c.109G>A	c.(109-111)Gag>Aag	p.E37K		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	Homo sapiens BTB (POZ) domain containing 17 (BTBD17), mRNA.	37						extracellular region		p.E37D(1)		endometrium(1)|kidney(1)|lung(4)	6						CCAGCTGCCTCCCCGCCAACA	0.652000														15			3		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124305219	124305219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124305219C>T	uc001uft.4	+	22	3764	c.3739C>T	c.(3739-3741)Cct>Tct	p.P1247S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1247	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTCGATCTTCCTATTACAAT	0.443000														76			21		0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11558330	11558330	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11558330C>T	uc010xlz.2	+	10	1262	c.926C>T	c.(925-927)tCg>tTg	p.S309L	PRKCSH_uc002mrt.3_Missense_Mutation_p.S309L|PRKCSH_uc002mru.3_Missense_Mutation_p.S309L|PRKCSH_uc002mrv.1_Missense_Mutation_p.S309L|PRKCSH_uc010dyb.3_Missense_Mutation_p.S309L	NM_002743	NP_002734	P14314	GLU2B_HUMAN	Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.	309					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CCAGTGCCCTCGTCGCCCACA	0.667000														28			12		0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14607558	14607558	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:14607558G>A	uc003jfj.3	+	5	731	c.618G>A	c.(616-618)ttG>ttA	p.L206L		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA.	206										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGGAATTATTGAAAACACAGG	0.393000														62			24		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037935	75037935	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75037935C>T	uc001dgg.3	-	13	3678	c.3459G>A	c.(3457-3459)gtG>gtA	p.V1153V		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1153	Glu-rich.									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						ATATGGGAACCACTGTCTCTT	0.468000														76			24		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165491	172165491	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:172165491T>C	uc003fib.2	-	0	756	c.713A>G	c.(712-714)aAg>aGg	p.K238R	GHSR_uc011bpv.2_Missense_Mutation_p.K238R	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	238					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCGCCACAGCTTCCTGCCGAT	0.607000														42			17		0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56574793	56574793	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56574793G>A	uc001skb.3	-	10	1155	c.1049C>T	c.(1048-1050)cCc>cTc	p.P350L	SMARCC2_uc001skd.3_Missense_Mutation_p.P350L|SMARCC2_uc001ska.3_Missense_Mutation_p.P350L|SMARCC2_uc001skc.3_Missense_Mutation_p.P350L|SMARCC2_uc010sqf.2_Missense_Mutation_p.P239L	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	350					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTCTACATTGGGGACTGGTGA	0.557000														181			31		0	0	1	0	0
FOXA3	3171	broad.mit.edu	37	19	46376127	46376127	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46376127C>T	uc002pdr.3	+	1	1061	c.864C>T	c.(862-864)ctC>ctT	p.L288L		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	288					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GCCTGGAGCTCCCAGGGGAGC	0.607000														37			22		0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143412128	143412128	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:143412128C>T	uc003evn.3	-	4	764	c.555G>A	c.(553-555)gtG>gtA	p.V185V	SLC9A9_uc011bnk.2_Silent_p.V59V	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	185					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.V185A(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCATAGCCTTCACAAAACCAT	0.378000														81			28		0	0	1	0	0
KCNIP3	30818	broad.mit.edu	37	2	96040113	96040113	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:96040113C>T	uc002sup.3	+	2	366	c.251C>T	c.(250-252)gCc>gTc	p.A84V	KCNIP3_uc002suq.3_Missense_Mutation_p.A58V	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Homo sapiens Kv channel interacting protein 3, calsenilin (KCNIP3), transcript variant 1, mRNA.	84	EF-hand 1; degenerate.				apoptosis|signal transduction|transcription, DNA-dependent	Golgi apparatus|endoplasmic reticulum|nucleus|plasma membrane	DNA binding|calcium ion binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	p.Q83Q(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		CAGCTGCAGGCCCAGACCAAG	0.602000														58			16		0	0	1	0	0
RHBDL2	54933	broad.mit.edu	37	1	39381281	39381281	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:39381281C>A	uc010oio.1	-	2	592	c.588G>T	c.(586-588)aaG>aaT	p.K196N	RHBDL2_uc010oin.1_Missense_Mutation_p.K116N|RHBDL2_uc001ccu.1_Missense_Mutation_p.K116N|RHBDL2_uc001ccv.3_Missense_Mutation_p.K116N	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	Homo sapiens rhomboid, veinlet-like 2 (Drosophila) (RHBDL2), mRNA.	116					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CTTCCTCCCTCTTCTCAGGAC	0.453000														83			21		1.22574e-08	1.22942e-08	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152831474	152831474	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:152831474G>A	uc021zhb.1	-	5	658	c.435C>T	c.(433-435)ctC>ctT	p.L145L	SYNE1_uc003qot.4_Silent_p.L152L|SYNE1_uc003qou.4_Silent_p.L145L|SYNE1_uc010kjb.1_Silent_p.L145L|SYNE1_uc003qpa.1_Silent_p.L145L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	145	Actin-binding.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACAAAGACTGGAGCTGGGGCA	0.458000										HNSCC(10;0.0054)				22			22		0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206331107	206331108	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:206331107_206331108GG>AA	uc001hdu.3	+	8	1231_1232	c.1113_1114GG>AA	c.(1111-1116)ggggat>ggAAat	p.D372N	CTSE_uc001hdv.3_Missense_Mutation_p.G324E|CTSE_uc010prs.2_Missense_Mutation_p.G249E	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	377					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GGATCCTGGGGGATGTCTTCAT	0.559000														129			55		0	0	1	0	0
GZMA	3001	broad.mit.edu	37	5	54403622	54403622	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:54403622G>A	uc003jpm.3	+	3	253	c.216_splice	c.e3-1	p.L72_splice		NM_006144	NP_006135	P12544	GRAA_HUMAN	Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.	72	Peptidase S1.			NL -> IP (in Ref. 5; no nucleotide entry).	cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTGTTCTCAGGAACAAAAGGT	0.388000														69			21		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52240817	52240817	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:52240817G>A	uc003jou.3	+	26	3744	c.3330G>A	c.(3328-3330)cgG>cgA	p.R1110R	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Silent_p.R641R	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	1110					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAGAACTTCGGAGTGAAAATG	0.323000														175			20		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94068088	94068088	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:94068088G>A	uc003poe.3	-	3	1115	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	EPHA7_uc003pof.3_Nonsense_Mutation_p.Q292*|EPHA7_uc011eac.2_Nonsense_Mutation_p.Q292*	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	292	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CGAGAGCACTGAAGATCTTGA	0.433000														41			9		0	0	1	0	0
PTGIR	5739	broad.mit.edu	37	19	47127184	47127184	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47127184G>A	uc002pex.3	-	1	412	c.299C>T	c.(298-300)aCc>aTc	p.T100I		NM_000960	NP_000951	P43119	PI2R_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) receptor (IP) (PTGIR), mRNA.	100					G-protein signaling, coupled to cyclic nucleotide second messenger|cell-cell signaling|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GCCGAAGAAGGTCATGGCGAA	0.701000														11			4		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147494021	147494021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:147494021G>A	uc003lox.2	+	20	2057	c.1984G>A	c.(1984-1986)Ggc>Agc	p.G662S	SPINK5_uc010jgs.1_Missense_Mutation_p.G634S|SPINK5_uc010jgr.2_Missense_Mutation_p.G643S|SPINK5_uc003low.2_Missense_Mutation_p.G662S|SPINK5_uc003loy.2_Missense_Mutation_p.G662S	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	662	Kazal-like 10.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGACCCATGGCAACAAGTG	0.458000														48			31		0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29793396	29793396	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29793396G>A	uc002kxj.4	+	10	1500	c.1453G>A	c.(1453-1455)Gat>Aat	p.D485N		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	485	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGGAGCCAATGATGATCAATT	0.408000														27			17		0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39724502	39724502	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39724502C>T	uc002hxe.4	-	5	1372	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	436	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				AGGCTGTATTCCTGATTCTGG	0.547000														45			21		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2413244	2413244	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:2413244G>A	uc002wfy.1	+	12	2137	c.2076G>A	c.(2074-2076)ccG>ccA	p.P692P	TGM6_uc010gal.1_3'UTR	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	692					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CTCACTTCCCGGACATCAAGG	0.592000														117			38		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33135598	33135598	+	Missense_Mutation	SNP	C	T	T	rs146082418		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33135598C>T	uc003ocx.1	-	54	4220	c.3992G>A	c.(3991-3993)cGa>cAa	p.R1331Q	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.R1245Q|COL11A2_uc003ocz.1_Missense_Mutation_p.R1224Q	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1331	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCTCCTTGTCGCCCCTCGGA	0.657000														30			13		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962775	34962775	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:34962775G>A	uc004ddi.2	+	0	1863	c.1827G>A	c.(1825-1827)aaG>aaA	p.K609K		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	609										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCATTGAAAAGCTGTTTGCCA	0.438000														70			89		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84609371	84609371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:84609371G>A	uc004amn.3	+	3	4033	c.3986G>A	c.(3985-3987)gGg>gAg	p.G1329E		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1329						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AAGACATCAGGGGAGGTGCTT	0.507000														23			4		0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42050647	42050647	+	Silent	SNP	G	A	A	rs141964626		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:42050647G>A	uc003xos.2	-	1	266	c.57C>T	c.(55-57)ttC>ttT	p.F19F	PLAT_uc010lxf.1_Silent_p.F19F|PLAT_uc010lxg.1_Silent_p.F19F|PLAT_uc003xot.2_Silent_p.F19F|PLAT_uc011lcm.1_Silent_p.F19F|PLAT_uc011lcn.1_Silent_p.F19F	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	19					blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGGGCGAAACGAAGACTGCTC	0.567000														57			25		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23886094	23886094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23886094C>T	uc001wjx.3	-	32	4733	c.4627G>A	c.(4627-4629)Gcc>Acc	p.A1543T		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1543					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTCCAGGGCTGACTGCAGC	0.602000														73			28		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69324005	69324005	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:69324005C>T	uc002ars.2	+	3	514	c.473C>T	c.(472-474)gCc>gTc	p.A158V	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.A112V|NOX5_uc002arp.2_Missense_Mutation_p.A140V|NOX5_uc010bid.2_Missense_Mutation_p.A123V|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Missense_Mutation_p.A130V|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	158	N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CGCGAGAGCGCCATCTCGCTG	0.672000														27			7		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2542537	2542537	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:2542537G>A	uc002wgf.1	+	3	450	c.435G>A	c.(433-435)ggG>ggA	p.G145G	TMC2_uc002wgg.1_Silent_p.G129G|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	145	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTCTGGTGGGGAGTCCCTGT	0.617000														64			24		0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29627145	29627145	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29627145G>A	uc003nnf.3	+	1	367	c.138G>A	c.(136-138)ggG>ggA	p.G46G	MOG_uc003qzk.2_Silent_p.G46G|MOG_uc010kle.2_Intron|MOG_uc010klf.2_Intron|MOG_uc003nmy.2_Silent_p.G46G|MOG_uc003nna.3_Intron|MOG_uc011dlt.2_5'UTR|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Silent_p.G46G|MOG_uc003nng.3_Silent_p.G46G|MOG_uc003nni.3_Silent_p.G46G|MOG_uc003nnh.3_Silent_p.G46G|MOG_uc003nnj.3_Silent_p.G46G|MOG_uc003nnk.3_Silent_p.G46G	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	46	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.V45I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CTCTGGTCGGGGATGAAGTGG	0.547000														200			59		0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297788	139297788	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:139297788C>T	uc003etj.3	-	1	259	c.219G>A	c.(217-219)caG>caA	p.Q73Q	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Silent_p.Q36Q|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	73					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						AGTCGGATGTCTGCAGGGCCA	0.572000														53			21		0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72360381	72360381	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72360381G>A	uc009xqg.3	-	1	439	c.278C>T	c.(277-279)aCc>aTc	p.T93I	PRF1_uc001jrf.4_Missense_Mutation_p.T93I	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	93	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCGCCAGTTGGTGAGCGCCAG	0.662000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					23			12		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55174690	55174690	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55174690C>T	uc010ooe.1	+	22	3995	c.3671C>T	c.(3670-3672)tCc>tTc	p.S1224F	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Missense_Mutation_p.S742F|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.S425F	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1224						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						GCTCAAGGGTCCCTGGTCCCC	0.522000														93			29		0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164507068	164507068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:164507068C>T	uc003iqs.2	-	5	438	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	MARCH1_uc003iqr.2_Missense_Mutation_p.E69K	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	86					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)				TCATCCCCTTCGCAGTGACAG	0.527000														27			19		0	0	1	0	0
PHF2P1	266695	broad.mit.edu	37	13	19636803	19636803	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19636803C>T	uc001umb.1	-	5		c.779G>A								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		GCCTCCTCCTCTTCCACTCCC	0.527000														18			10		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600924	29600924	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29600924G>A	uc001usl.4	+	0	2177	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	697	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAACCTCTATGAGAAATTCAA	0.542000														41			24		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39782184	39782184	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:39782184C>T	uc021olt.1	+	26	3638	c.3586C>T	c.(3586-3588)Cat>Tat	p.H1196Y	MACF1_uc021ols.1_Missense_Mutation_p.H1196Y|MACF1_uc001cdc.2_Missense_Mutation_p.H1196Y|MACF1_uc001cda.1_Missense_Mutation_p.H1104Y|MACF1_uc009vvq.1_Missense_Mutation_p.H253Y|MACF1_uc001cdb.1_Missense_Mutation_p.H283Y	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1196					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTGGAGGCCCATTGGTCGAC	0.443000														120			43		0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39773623	39773623	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:39773623C>T	uc003axs.4	+	3	532	c.507C>T	c.(505-507)gcC>gcT	p.A169A	TAB1_uc003axo.4_Silent_p.A168A|TAB1_uc003axq.4_Intron|TAB1_uc003axr.3_Intron	NM_145738	NP_663791	Q15750	TAB1_HUMAN	Homo sapiens synaptogyrin 1 (SYNGR1), transcript variant 1c, mRNA.	0	PP2C-like.				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|activation of MAPKKK 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	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CAGCCCTGGCCGTGCGGAGAT	0.672000														27			7		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41582040	41582040	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:41582040G>A	uc003xok.3	-	6	729	c.645C>T	c.(643-645)caC>caT	p.H215H	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Silent_p.H215H|ANK1_uc003xoj.3_Silent_p.H215H|ANK1_uc003xol.3_Silent_p.H215H|ANK1_uc003xom.3_Silent_p.H248H	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	215	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGTTCTCGTAGTGAGCCGCAA	0.562000														5			3		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149883447	149883447	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:149883447G>A	uc001etg.3	-	2	1199	c.708C>T	c.(706-708)ctC>ctT	p.L236L	SV2A_uc001eth.2_Silent_p.L236L	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	236					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGAGCGAGATGAGCAGACACT	0.587000														51			15		0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52502448	52502448	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:52502448C>T	uc002egw.2	-	1	297	c.126G>A	c.(124-126)gcG>gcA	p.A42A	TOX3_uc010vgt.1_Silent_p.A38A	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	42					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						ACGCATTGTTCGCCTCAGCCA	0.353000														98			26		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166959042	166959042	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:166959042G>A	uc001gdy.1	+	1	272	c.201G>A	c.(199-201)aaG>aaA	p.K67K	MAEL_uc021peh.1_Silent_p.K11K|MAEL_uc001gdz.1_Intron|MAEL_uc009wvf.1_5'Flank	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	67					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CTCAGGGAAAGGACCCTGGGC	0.502000														29			13		0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219553448	219553448	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219553448C>T	uc002viu.3	+	11	1688	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	STK36_uc002viv.3_Missense_Mutation_p.S470F	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	470					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GAGGGTGCTTCCCACATCCTG	0.517000														204			88		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678421	48678422	+	Silent	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48678421_48678422CC>TT	uc002irk.1	+	18	4173_4174	c.3801_3802CC>TT	c.(3799-3804)ctcctg>ctTTtg	p.1267_1268LL>LL	CACNA1G_uc002iri.1_Silent_p.1267_1268LL>LL|CACNA1G_uc002irj.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irl.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irm.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irn.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002iro.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irp.1_Silent_p.1267_1268LL>LL|CACNA1G_uc002irq.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irr.1_Silent_p.1267_1268LL>LL|CACNA1G_uc002irs.1_Silent_p.1267_1268LL>LL|CACNA1G_uc002irt.1_Silent_p.1267_1268LL>LL|CACNA1G_uc002iru.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irv.1_Silent_p.1267_1268LL>LL|CACNA1G_uc002irw.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irx.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002iry.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isg.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002ish.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isi.1_Silent_p.1157_1158LL>LL|CACNA1G_uc002irz.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isa.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isd.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isb.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isc.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002ise.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isf.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isj.3_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1267					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTTCCGCCTCCTGTGTCACCG	0.624000														85			55		0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35297980	35297980	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:35297980G>A	uc002hnh.2	+	2	1194	c.471G>A	c.(469-471)gaG>gaA	p.E157E	LHX1_uc010cux.1_Silent_p.E65E	NM_005568	NP_005559	P48742	LHX1_HUMAN	Homo sapiens LIM homeobox 1 (LHX1), mRNA.	157					S-shaped body morphogenesis|cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGGACTCGGAGAGCGCCAACG	0.632000														34			19		0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643428	37643428	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:37643428C>T	uc002ofo.1	-	4	1604	c.1373G>A	c.(1372-1374)cGa>cAa	p.R458Q	ZNF585A_uc002ofm.1_Missense_Mutation_p.R403Q|ZNF585A_uc002ofn.1_Missense_Mutation_p.R403Q	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.R403Q(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGTGAATTCGTTTATGAAC	0.398000														161			52		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046475	73046475	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73046475G>A	uc004ebn.2	+	0		c.34436G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GTAGGGTTTAGGGTTCTCATC	0.423000														54			72		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145435641	145435641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:145435641G>A	uc003lnt.3	+	7	1658	c.1420G>A	c.(1420-1422)Ggt>Agt	p.G474S	SH3RF2_uc011dbl.1_Missense_Mutation_p.G474S|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.3_5'UTR|SH3RF2_uc011dbn.1_5'UTR	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	474							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)			CATTTCAGAAGGTGATCCACG	0.557000														182			66		0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125239244	125239244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125239244C>T	uc011lyu.2	-	0	962	c.962G>A	c.(961-963)gGa>gAa	p.G321E	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	321					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						gcctcagcctcccaaagtgtt	0.468000														33			13		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716952	13716952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:13716952C>T	uc001rbt.2	-	12	3399	c.3220G>A	c.(3220-3222)Gag>Aag	p.E1074K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1074					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCATTGCCCTCGATGTTCCCA	0.567000														22			16		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231577	21231577	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21231577G>A	uc002red.3	-	25	8291	c.8163C>T	c.(8161-8163)ttC>ttT	p.F2721F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2721				Missing (in Ref. 15; AAA51758).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGGGATTATGAATTCTGGAA	0.428000														190			80		0	0	1	0	0
RP11-165H20.1	149620	broad.mit.edu	37	1	111826767	111826767	+	RNA	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111826767T>G	uc009wgb.3	+	5		c.1451T>G								Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA.																		TGGACACTCCTTCCTTCTGAG	0.547000														23			10		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119942978	119942978	+	Silent	SNP	G	A	A	rs141348508	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:119942978G>A	uc001txe.3	+	6	1218	c.753G>A	c.(751-753)caG>caA	p.Q251Q	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	251										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCTCTCCCCAGAGCAGCATGA	0.557000														147			69		0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95147382	95147382	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:95147382C>T	uc003htb.4	+	2	480	c.303C>T	c.(301-303)gtC>gtT	p.V101V	SMARCAD1_uc003htc.4_Silent_p.V101V|SMARCAD1_uc003htd.4_Silent_p.V101V|SMARCAD1_uc010ila.3_5'UTR	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	101					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GTGAAGATGTCGTTTCCCCAA	0.303000														111			55		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207644767	207644767	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207644767G>A	uc001hfw.3	+	9	1613	c.1494_splice	c.e9-1	p.G498_splice	CR2_uc001hfv.3_Splice_Site_p.G498_splice|CR2_uc009xch.3_Splice_Site_p.G498_splice|CR2_uc009xci.1_Intron	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	498	Sushi 8.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCTGTCTCTAGGTACAAGTTA	0.438000														125			55		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74092231	74092231	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:74092231G>A	uc021ulp.1	-	3	2157	c.1839C>T	c.(1837-1839)tcC>tcT	p.S613S	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TCACCTCTTCGGAAAAGCAGC	0.557000														46			20		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601358	75601358	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:75601358C>T	uc001sxg.1	-	1	950	c.406G>A	c.(406-408)Gag>Aag	p.E136K	KCNC2_uc009zry.3_Missense_Mutation_p.E136K|KCNC2_uc001sxe.3_Missense_Mutation_p.E136K|KCNC2_uc001sxf.3_Missense_Mutation_p.E136K|KCNC2_uc010stw.1_Missense_Mutation_p.E136K	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	136					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GCCAGCTCCTCCTCGAAGAGC	0.662000														42			20		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287790	16287790	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:16287790G>A	uc010gqp.2	-	0	148	c.96C>T	c.(94-96)ttC>ttT	p.F32F	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	32										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCACCAGGCGAAGCAGTGGC	0.582000														264			93		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97329689	97329689	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:97329689C>T	uc010how.1	+	12	2608	c.2565C>T	c.(2563-2565)tcC>tcT	p.S855S	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Silent_p.S221S|EPHA6_uc003drs.4_Silent_p.S247S|EPHA6_uc003drr.4_Silent_p.S247S|EPHA6_uc003drt.3_Silent_p.S247S|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	760	Protein kinase.					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						CCCTAGACTCCTTTTTGCGGG	0.333000														61			22		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140772917	140772917	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140772917C>T	uc003lkd.2	+	0	1435	c.537C>T	c.(535-537)tcC>tcT	p.S179S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.S179S|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	179	Cadherin 2.				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)			ACCACTTCTCCCTGGACGTGC	0.607000														71			26		0	0	1	0	0
CXCR5	643	broad.mit.edu	37	11	118764585	118764585	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118764585G>A	uc001pue.4	+	1	508	c.332G>A	c.(331-333)gGc>gAc	p.G111D	CXCR5_uc001puf.3_Missense_Mutation_p.G66D	NM_001716	NP_116743	P32302	CXCR5_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 5 (CXCR5), transcript variant 1, mRNA.	111					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GTGGCCGAGGGCTCTGTGGGC	0.627000														61			29		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74978059	74978059	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:74978059C>T	uc001xqa.3	-	18	3304	c.2917G>A	c.(2917-2919)Gaa>Aaa	p.E973K		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	973	Cys-rich.|EGF-like 7; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGACGGCATTCGTTGATATCT	0.572000														89			33		0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576322	158576322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158576322C>T	uc010pio.2	+	0	94	c.94C>T	c.(94-96)Ctc>Ttc	p.L32F		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGCCTTGTTCCTCTCTCTGTA	0.502000														135			55		0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23782434	23782435	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:23782434_23782435GG>AA	uc001bha.2	-	2	411_412	c.287_288CC>TT	c.(286-288)tcc>tTT	p.S96F	ASAP3_uc010odz.1_5'UTR|ASAP3_uc010oea.1_Missense_Mutation_p.S96F|ASAP3_uc001bhc.1_Missense_Mutation_p.S96F	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	96					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GGAAGCCTGTGGACAGCTCATG	0.569000														90			40		0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54925355	54925355	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:54925355C>T	uc002iur.3	+	4	997	c.817C>T	c.(817-819)Cga>Tga	p.R273*	DGKE_uc002ius.1_Nonsense_Mutation_p.R273*	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	273	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTATTCAGCTCGAGTACTTGT	0.388000														77			22		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22363169	22363169	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22363169C>T	uc021rpj.1	+	1	471	c.300C>T	c.(298-300)gcC>gcT	p.A100A	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron					RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor;																		AACCCTCAGCCCATATGAGCG	0.502000														73			24		0	0	1	0	0
SLC24A6	80024	broad.mit.edu	37	12	113759020	113759020	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113759020G>A	uc001tvc.3	-	2	500	c.290C>T	c.(289-291)cCt>cTt	p.P97L	SLC24A6_uc001tvd.1_Missense_Mutation_p.P97L|SLC24A6_uc001tuz.3_5'Flank|SLC24A6_uc001tva.3_5'Flank|SLC24A6_uc001tvb.3_5'Flank	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	97					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						GACAGCCAGAGGGAGGAGGCT	0.642000														114			18		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72511377	72511377	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72511377C>T	uc001jrg.3	+	16	2580	c.2580C>T	c.(2578-2580)gcC>gcT	p.A860A	ADAMTS14_uc001jrh.3_Silent_p.A857A	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	857	TSP type-1 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGAGCTGGGCCCCCTGCAGCA	0.617000														48			19		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31920407	31920407	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:31920407C>T	uc003tcm.2	-	2	656	c.195G>A	c.(193-195)ttG>ttA	p.L65L	PDE1C_uc003tcn.1_Silent_p.L65L|PDE1C_uc003tco.2_Silent_p.L125L|PDE1C_uc003tcr.3_Silent_p.L65L|PDE1C_uc003tcs.3_Silent_p.L65L	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	65					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTGCATATTCCAAATTCTTCT	0.308000														114			51		0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33785177	33785177	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:33785177C>T	uc002kzq.4	+	5	1179	c.1156C>T	c.(1156-1158)Cag>Tag	p.Q386*		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	386					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CCCTGAGGTTCAGGGCCCAAT	0.498000														84			55		0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55572982	55572982	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55572982G>A	uc021onw.1	-	39	4945	c.4692C>T	c.(4690-4692)atC>atT	p.I1564I	USP24_uc001cyg.4_Silent_p.I1398I	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	1564					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTGCCAGTAAGATGTTGTCCG	0.463000														66			11		0	0	1	0	0
MMP24	10893	broad.mit.edu	37	20	33851599	33851599	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33851599G>A	uc002xbu.2	+	4	826	c.823G>A	c.(823-825)Gac>Aac	p.D275N	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	275					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CACAGGGAACGACCTCTTCCT	0.627000														9			8		0	0	1	0	0
SFTPA1	653509	broad.mit.edu	37	10	81372163	81372163	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81372163G>A	uc009xry.3	+	3	395	c.313G>A	c.(313-315)Gag>Aag	p.E105K	SFTPA1_uc001kap.3_Missense_Mutation_p.E90K|SFTPA1_uc001kar.3_Missense_Mutation_p.E90K|SFTPA1_uc001kaq.3_Missense_Mutation_p.E90K|SFTPA1_uc001kao.3_Missense_Mutation_p.E56K|SFTPA1_uc021puu.1_Missense_Mutation_p.E41K|SFTPA1_uc010qlt.2_Missense_Mutation_p.E31K|SFTPA1_uc009xrz.3_Intron	NM_001093770	NP_005402	Q8IWL2	SFTA1_HUMAN	Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA.	90					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGAGAAGGGGGAGCCTGGCGA	0.632000														182			11		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18788727	18788727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:18788727G>A	uc003sui.3	+	12	2050	c.2009G>A	c.(2008-2010)cGa>cAa	p.R670Q	HDAC9_uc003sue.3_Missense_Mutation_p.R667Q|HDAC9_uc011jyd.2_Missense_Mutation_p.R667Q|HDAC9_uc003suh.3_Missense_Mutation_p.R667Q|HDAC9_uc003suj.3_Missense_Mutation_p.R626Q|HDAC9_uc003sua.1_Missense_Mutation_p.R645Q|HDAC9_uc010kue.1_Missense_Mutation_p.R322Q	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	667	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.R670L(3)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATCTGGTCACGACTGCAAGAA	0.438000														16			7		0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53269757	53269757	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53269757C>T	uc002qab.4	-	2	1538	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	ZNF600_uc021uyz.1_Missense_Mutation_p.E418K	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TTCCCACATTCATTACACTTG	0.358000														121			27		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160049500	160049500	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:160049500C>T	uc003lym.1	-	13	2560	c.1713G>A	c.(1711-1713)aaG>aaA	p.K571K	ATP10B_uc010jit.1_5'Flank|ATP10B_uc003lyn.3_Silent_p.K129K	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	571					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(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGGGAAGCCTTGGCAGGTC	0.522000														58			29		0	0	1	0	0
FERMT2	10979	broad.mit.edu	37	14	53327118	53327118	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:53327118C>T	uc001xac.3	-	13	1875	c.1689G>A	c.(1687-1689)atG>atA	p.M563I	FERMT2_uc001xad.3_Missense_Mutation_p.M556I|FERMT2_uc001xae.3_Missense_Mutation_p.M556I|FERMT2_uc001xaf.3_Missense_Mutation_p.M563I	NM_001134999	NP_001128471	Q96AC1	FERM2_HUMAN	Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA.	556	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					GAATAAATCTCATCTTGGCTT	0.403000														54			9		0	0	1	0	0
ZNF503	84858	broad.mit.edu	37	10	77159218	77159218	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:77159218G>A	uc001jxg.3	-	1	1566	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S	ZNF503-AS2_uc010qlf.2_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	Homo sapiens zinc finger protein 503 (ZNF503), mRNA.	410	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CCAAAGGGCTGGAGCCGGCCG	0.716000														4			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179575439	179575439	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179575439C>T	uc021vsy.1	-	94	24878	c.24653G>A	c.(24652-24654)gGa>gAa	p.G8218E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4879E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9145	Ig-like 64.						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)			TCCAGAATCTCCTTTGTCTAC	0.438000														78			57		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119738993	119738993	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:119738993G>A	uc002tln.1	+	8	907	c.775G>A	c.(775-777)Ggg>Agg	p.G259R	MARCO_uc010yyf.1_Missense_Mutation_p.G181R	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	259	Collagen-like.				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						AGGAAGCAAAGGGGACAGGGG	0.562000														24			10		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77779516	77779516	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:77779516G>A	uc021rks.1	-	25	3985	c.3718C>T	c.(3718-3720)Cat>Tat	p.H1240Y	MYCBP2_uc010aev.3_Missense_Mutation_p.H606Y	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	1202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCTCCTCCATGACCTAGAATA	0.368000														63			31		0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76576248	76576248	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:76576248C>T	uc003pih.1	+	16	1959	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P	MYO6_uc003pig.1_Silent_p.P560P|MYO6_uc003pii.1_Silent_p.P560P	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	560	Myosin head-like.				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTCAGATTCCCAGAAAATCTA	0.323000														76			6		0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15655019	15655019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15655019G>A	uc002nbh.4	+	9	1232	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	355						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CAAAGTATCCGGAATACCAGG	0.537000														75			39		0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213419	9213419	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9213419G>A	uc010xkk.2	-	0	564	c.564C>T	c.(562-564)tcC>tcT	p.S188S		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CTGTGCAGAAGGACAGCCTCA	0.493000														50			27		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736825	140736825	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140736825C>T	uc003ljq.2	+	0	2058	c.2058C>T	c.(2056-2058)gaC>gaT	p.D686D	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljs.2_5'Flank|PCDHGC5_uc003ljp.1_Silent_p.D686D|PCDHGC5_uc011dar.2_5'Flank	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	687					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)			ACCCAGACGACTCGGGCCTCA	0.617000														49			26		0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46023068	46023068	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46023068G>A	uc011bal.1	-	1	268	c.156C>T	c.(154-156)ctC>ctT	p.L52L	FYCO1_uc003cpb.4_Silent_p.L52L	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	52	RUN.				transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTACTTGCAGGAGATACTCAA	0.418000														46			11		0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123524485	123524485	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123524485G>A	uc001pza.1	-	1	432	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	SCN3B_uc001pzb.1_Missense_Mutation_p.P9S	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	9					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GAAGCCAGGGGAAACAATCTA	0.502000														207			51		0	0	1	0	0
KBTBD5	131377	broad.mit.edu	37	3	42729691	42729691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42729691C>T	uc003clv.1	+	1	1310	c.1210C>T	c.(1210-1212)Ctc>Ttc	p.L404F		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	404										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GCCCCGCTGCCTCTTTGGCCT	0.642000														55			21		0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123163094	123163094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:123163094C>T	uc004bkf.3	-	34	5558	c.5377G>A	c.(5377-5379)Gcc>Acc	p.A1793T	CDK5RAP2_uc010mvi.3_Missense_Mutation_p.A802T|CDK5RAP2_uc004bke.3_Missense_Mutation_p.A1078T|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.A1714T|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.A1058T|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.A1058T|CDK5RAP2_uc011lya.2_Missense_Mutation_p.A1058T|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.A1563T	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1793	Interaction with PCNT and AKAP9.				G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CGCCTGTAGGCCTCTTCCAGG	0.587000														57			15		0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162280207	162280207	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:162280207C>T	uc002ubw.1	+	5	1820	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	TBR1_uc010foy.2_Silent_p.F219F	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	506						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCACGGACTTCGCGGGCAACG	0.731000														7			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048259	9048259	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9048259C>T	uc002mkp.3	-	4	33576	c.33372G>A	c.(33370-33372)gaG>gaA	p.E11124E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11126	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						AAGGTGTGGTCTCTGGCTCAC	0.512000														73			30		0	0	1	0	0
FAAH	2166	broad.mit.edu	37	1	46871292	46871292	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:46871292C>T	uc001cpu.2	+	4	693	c.611C>T	c.(610-612)aCc>aTc	p.T204I	FAAH_uc001cpv.2_Non-coding_Transcript	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	204					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TTTGGCCAGACCGTGAACCCA	0.662000														171			46		0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25701903	25701903	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:25701903G>A	uc001bkf.3	-	7	1176	c.1090C>T	c.(1090-1092)Ctc>Ttc	p.L364F	RHCE_uc001bkg.3_Missense_Mutation_p.P319L|RHCE_uc001bkh.3_Intron|RHCE_uc001bki.3_Missense_Mutation_p.L213F|RHCE_uc001bkj.3_Missense_Mutation_p.L348F	NM_020485	NP_065231	P18577	RHCE_HUMAN	Homo sapiens Rh blood group, CcEe antigens (RHCE), transcript variant 1, mRNA.	364						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		ATGCTGAGGAGGACCTGGAAG	0.542000														163			35		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2418758	2418758	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:2418758C>T	uc001aji.1	+	6	1328	c.1054C>T	c.(1054-1056)Cag>Tag	p.Q352*	PLCH2_uc010nyz.2_Nonsense_Mutation_p.Q141*|PLCH2_uc009vle.1_Nonsense_Mutation_p.Q141*|PLCH2_uc001ajj.1_Nonsense_Mutation_p.Q141*|PLCH2_uc001ajk.1_Nonsense_Mutation_p.Q141*	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	353	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			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)		GCTCATGTCCCAGTCACGGGT	0.627000														25			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179417421	179417421	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179417421C>T	uc021vsy.1	-	283	82727	c.82502G>A	c.(82501-82503)aGg>aAg	p.R27501K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R21196K|TTN_uc021vta.1_Missense_Mutation_p.R21129K|TTN_uc021vtb.1_Missense_Mutation_p.R21004K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28428	Fibronectin type-III 100.						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)			TTTACCTTTCCTTTCTACAAC	0.448000														83			24		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642416	156642416	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156642416C>T	uc001fpq.3	-	3	1697	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	522	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	p.E522D(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCCATATTTCCTGCTGCAAG	0.483000														203			26		0	0	1	0	0
C22orf43	51233	broad.mit.edu	37	22	23974157	23974157	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:23974157C>T	uc002zxf.3	-	0	352	c.54G>A	c.(52-54)ggG>ggA	p.G18G		NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN	Homo sapiens chromosome 22 open reading frame 43 (C22orf43), mRNA.	18										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						GTGCGTCCTTCCCCCTGGGCC	0.527000														81			18		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48936161	48936161	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:48936161C>T	uc002rwu.4	-	8	676	c.606_splice	c.e8-1	p.L202_splice	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Splice_Site	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	202					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CCTTTAGCTCCCTGTGGGGAA	0.488000														86			28		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841810	13841810	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13841810G>A	uc003jfd.2	-	32	5517	c.5475C>T	c.(5473-5475)ttC>ttT	p.F1825F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1825	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1824F(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGAGCAGGGAAGGATGAAA	0.358000									Kartagener syndrome					57			29		0	0	1	0	0
BVES	11149	broad.mit.edu	37	6	105549067	105549067	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:105549067C>T	uc003pqw.3	-	7	1137	c.980G>A	c.(979-981)cGa>cAa	p.R327Q	BVES_uc003pqx.3_Missense_Mutation_p.R327Q|BVES_uc003pqy.3_Missense_Mutation_p.R327Q	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	327					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of Rac GTPase activity|regulation of cell shape|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GGCAGAGGCTCGCTGGTGTGG	0.448000														28			16		0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143057231	143057231	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143057231T>A	uc010lpa.3	-	1	184	c.40A>T	c.(40-42)Att>Ttt	p.I14F	FAM131B_uc010loz.3_5'Flank|FAM131B_uc003wct.3_5'UTR|FAM131B_uc003wcu.4_5'UTR|ZYX_uc011ktd.2_5'Flank	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	0										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TCCACTGCAATCACCTCATTC	0.617000														20			7		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596488	11596488	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11596488C>T	uc001ash.4	+	20	4062	c.3924C>T	c.(3922-3924)ttC>ttT	p.F1308F		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1308					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)		TGCCCCTCTTCTTCTGCATCA	0.642000														65			23		0	0	1	0	0
MYL7	58498	broad.mit.edu	37	7	44178607	44178607	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44178607G>A	uc003tkg.3	-	6	453	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_021223	NP_067046	Q01449	MLRA_HUMAN	Homo sapiens myosin, light chain 7, regulatory (MYL7), mRNA.	147	EF-hand 3.				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						GTGTCAGGGCGAACATCTGCT	0.612000														42			17		0	0	1	0	0
DAK	26007	broad.mit.edu	37	11	61106811	61106811	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:61106811C>T	uc001nre.3	+	4	647	c.390C>T	c.(388-390)atC>atT	p.I130I	DDB1_uc010rlf.1_Intron|DAK_uc009ynm.1_Silent_p.I60I	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	Homo sapiens dihydroxyacetone kinase 2 homolog (S. cerevisiae) (DAK), mRNA.	130	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGAAGGCATCCCGGTGGAGA	0.652000														113			14		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26108068	26108068	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:26108068G>A	uc002gzu.3	-	7	1122	c.858C>T	c.(856-858)ttC>ttT	p.F286F	NOS2_uc010crh.1_Silent_p.F286F|NOS2_uc010wab.1_Silent_p.F286F	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	286					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GTACCTGAGTGAATTCCACGT	0.647000														38			18		0	0	1	0	0
XKR8	55113	broad.mit.edu	37	1	28290032	28290032	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:28290032G>A	uc001bph.1	+	1	395	c.318G>A	c.(316-318)ggG>ggA	p.G106G		NM_018053	NP_060523	Q9H6D3	XKR8_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 8 (XKR8), mRNA.	106						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		TGCGGCAGGGGCTGCTGGTGT	0.602000														40			17		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55910724	55910724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55910724G>A	uc003tqz.2	-	4	586	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	157					cell cycle|cell division	septin complex	GTP binding|protein binding	p.R157L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACGTGGACGCGAGAATCATGG	0.398000														13			9		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74276776	74276776	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74276776C>T	uc002jrd.1	-	9	4102	c.3922G>A	c.(3922-3924)Gaa>Aaa	p.E1308K	QRICH2_uc010dgw.1_Missense_Mutation_p.E152K	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1308							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TTGGCCTTTTCCTTTTCGAGC	0.592000														93			28		0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219256209	219256209	+	Silent	SNP	C	T	T	rs141050730		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219256209C>T	uc002vhv.3	+	10	1495	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	SLC11A1_uc010fvp.1_Silent_p.F385F|SLC11A1_uc010fvq.1_Silent_p.F318F|SLC11A1_uc010zkc.1_Silent_p.F318F|SLC11A1_uc002vhu.1_Silent_p.F180F|SLC11A1_uc002vhw.3_Silent_p.F267F|SLC11A1_uc010fvr.3_Silent_p.F180F	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	385					L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGGACAGTTCGTGATGGAGG	0.672000														6			4		0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12760765	12760765	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12760765G>A	uc002mub.2	-	17	2305	c.2229C>T	c.(2227-2229)ttC>ttT	p.F743F	MAN2B1_uc010dyv.1_Silent_p.F742F	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	743					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGTCTGTGTAGAAGCGTCCCT	0.607000														156			65		0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10876198	10876198	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:10876198C>T	uc003mzn.4	-	3	580	c.508G>A	c.(508-510)Gct>Act	p.A170T	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	170					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CTTCTTCTAGCTTCTGTCTCT	0.453000														83			32		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950722	198950722	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:198950722C>T	uc010fsp.3	+	1	2879	c.2481C>T	c.(2479-2481)ccC>ccT	p.P827P	PLCL1_uc002uuv.4_Silent_p.P748P	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	827					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGCATGTTCCCCTGCGTTCTT	0.453000														74			29		0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8007490	8007490	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:8007490G>A	uc002gka.3	-	12	2227	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F	ALOXE3_uc010cnr.3_Silent_p.F576F|ALOXE3_uc010vuo.2_Silent_p.F708F	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	576					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TTGCAGTGAGGAACTTCACCA	0.582000														17			11		0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104302572	104302572	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104302572C>T	uc004bbn.3	+	2	307	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	Homo sapiens ring finger protein 20 (RNF20), mRNA.	73					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGATGAACTTCGTGAGCACAT	0.453000														121			36		0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51687149	51687149	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51687149G>A	uc002aba.3	+	4	828	c.659G>A	c.(658-660)gGa>gAa	p.G220E	GLDN_uc002abb.3_Missense_Mutation_p.G96E	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	220	Collagen-like 2.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		p.G220R(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGTGACAAAGGAGATGTGTCC	0.582000														25			10		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24886121	24886121	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24886121C>T	uc001wpf.4	+	8	5484	c.5166C>T	c.(5164-5166)ttC>ttT	p.F1722F		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1722	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACTGGGAATTCAAGAGGGCCC	0.637000														16			6		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11468641	11468641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:11468641G>A	uc021zzo.1	-	13	3428	c.3176C>T	c.(3175-3177)tCt>tTt	p.S1059F	THSD7A_uc021zzn.1_Missense_Mutation_p.S1059F	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1059	TSP type-1 11.					integral to membrane		p.S1059F(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CAGCCATTTAGAACGAACCTT	0.507000										HNSCC(18;0.044)				284			97		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10420946	10420946	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10420946C>T	uc003bvt.3	-	8	1462	c.1023G>A	c.(1021-1023)gtG>gtA	p.V341V	ATP2B2_uc003bvv.3_Intron|ATP2B2_uc003bvw.3_Intron|ATP2B2_uc010hdo.3_Silent_p.V46V	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	341					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGCTGGCGTCCACATTGCCAT	0.517000														31			13		0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98072952	98072952	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:98072952C>T	uc011bgv.2	+	0	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TAGAGAATTTCTTTTCTGAGG	0.433000														356			165		0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118969872	118969873	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:118969872_118969873GG>AA	uc003ksm.2	+	2	639_640	c.429_430GG>AA	c.(427-432)tgggag>tgAAag	p.143_144WE>*K	FAM170A_uc003ksl.2_Nonsense_Mutation_p.143_144WE>*K|FAM170A_uc003ksn.3_Nonsense_Mutation_p.143_144WE>*K|FAM170A_uc003kso.3_Nonsense_Mutation_p.96_97WE>*K	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	143						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CTGTCTCCTGGGAGACAGAGGA	0.465000														67			36		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42853767	42853768	+	Nonsense_Mutation	DNP	CC	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42853767_42853768CC>AT	uc002otl.4	+	12	2849_2850	c.2214_2215CC>AT	c.(2212-2217)atccag>atATag	p.Q739*	MEGF8_uc002otm.4_Nonsense_Mutation_p.Q347*	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	806						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)				CAGTAGAGATCCAGGGCCAGCT	0.653000														53			5		0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021113	5021113	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:5021113C>T	uc001qnh.3	+	1	1674	c.569C>T	c.(568-570)cCc>cTc	p.P190L	KCNA1_uc021qts.1_Missense_Mutation_p.P190L	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	190					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAGACGCTCCCCGAGCTGAAG	0.572000														63			23		0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704713	41704713	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41704713G>A	uc002opw.3	+	4	809	c.754G>A	c.(754-756)Gtg>Atg	p.V252M	CYP2S1_uc010xvx.2_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	252					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						AGTCCGGCAGGTGCAGCAGCA	0.642000														64			29		0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51330299	51330299	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51330299C>T	uc002ptl.3	-	2	347	c.316G>A	c.(316-318)Gac>Aac	p.D106N	KLK15_uc002ptm.3_Missense_Mutation_p.D106N|KLK15_uc002ptn.3_Missense_Mutation_p.D106N|KLK15_uc002pto.3_Missense_Mutation_p.D105N|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.D105N|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	106	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.D106N(2)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		AACATGATGTCGTTGCGGTGG	0.687000														61			20		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73659854	73659854	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:73659854C>T	uc002avp.3	-	0	1752	c.758G>A	c.(757-759)tGg>tAg	p.W253*		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	253	Involved in subunit assembly (By similarity).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTGGATAATCCAAAATCCGGC	0.607000														87			21		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125175031	125175031	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:125175031A>G	uc010flu.3	+	3	757	c.393A>G	c.(391-393)ggA>ggG	p.G131G	CNTNAP5_uc002tno.3_Silent_p.G131G	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	131	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G131E(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTTTGCAGGAAACATGAATG	0.488000														26			8		0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179525581	179525581	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:179525581C>T	uc003fki.1	-	13	1687	c.1557G>A	c.(1555-1557)gcG>gcA	p.A519A	PEX5L_uc011bqd.1_Silent_p.A476A|PEX5L_uc011bqe.1_Silent_p.A327A|PEX5L_uc011bqf.1_Silent_p.A411A|PEX5L_uc003fkj.1_Silent_p.A484A|PEX5L_uc010hxd.1_Silent_p.A517A|PEX5L_uc011bqg.1_Silent_p.A495A|PEX5L_uc011bqh.1_Silent_p.A460A	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	519					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GGTCTCCGTTCGCCAAGGTCG	0.527000														202			14		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77400934	77400934	+	Silent	SNP	G	A	A	rs149732972		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77400934G>A	uc004ajl.1	-	20	3013	c.2775C>T	c.(2773-2775)ttC>ttT	p.F925F	TRPM6_uc004ajk.1_Silent_p.F920F|TRPM6_uc022bib.1_Silent_p.F920F|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	925					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATCGAAGGACGAAGCCAGCTG	0.478000														128			32		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	62460	62460	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000209.1:62460C>T	uc002quc.4	+	4	870	c.680C>T	c.(679-681)tCa>tTa	p.S227L	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_Missense_Mutation_p.S222L|KIR2DL2_uc010yic.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evd.3_Missense_Mutation_p.S266L|KIR2DL2_uc002qud.4_Intron|KIR2DL2_uc002quh.4_Missense_Mutation_p.S171L|KIR2DL2_uc002que.4_Intron|KIR2DL2_uc002quf.4_Intron|KIR2DL2_uc010eve.3_Intron|KIR2DL2_uc002qug.4_Missense_Mutation_p.S227L|KIR2DL2_uc010evf.3_Intron	NM_002255	NP_002246	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	230					regulation of immune response	integral to membrane|plasma membrane	receptor activity										AGTTGGCCTTCACCCACTGAA	0.483000														378			30		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401432	77401432	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:77401432G>A	uc002ffc.4	-	3	1103	c.684C>T	c.(682-684)tcC>tcT	p.S228S	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.	228					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						TGTGACTTGGGGAGTAACCAG	0.517000														52			22		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335973	57335973	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57335973G>A	uc002qnu.2	-	0	402	c.51C>T	c.(49-51)gcC>gcT	p.A17A	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.A17A|PEG3_uc002qnv.2_Silent_p.A17A|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Silent_p.A17A	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	17					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACAGATTTGGGGCCCAGGACT	0.453000														73			32		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71130426	71130426	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:71130426C>T	uc003tvy.3	+	6	1111	c.1111C>T	c.(1111-1113)Ctt>Ttt	p.L371F	WBSCR17_uc003tvz.3_Missense_Mutation_p.L70F	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	371	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CATGGAGGTCCTTCCTTGCTC	0.522000														123			38		0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1387776	1387776	+	Missense_Mutation	SNP	C	T	T	rs144852834	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1387776C>T	uc001aft.2	+	2	1179	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	62							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGAAGGATTCCGTGCCTTTGT	0.577000														85			33		0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4337325	4337325	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:4337325C>T	uc002fxt.3	+	0	107	c.63C>T	c.(61-63)tcC>tcT	p.S21S	SPNS3_uc002fxu.3_5'UTR	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	21					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						AGGGCCAGTCCCCAGGGCCAG	0.701000														21			11		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634394	156634394	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:156634394G>A	uc003iov.3	+	7	1767	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	GUCY1A3_uc010iqc.2_Missense_Mutation_p.D411N|GUCY1A3_uc010iqd.3_Missense_Mutation_p.D410N|GUCY1A3_uc003iow.3_Missense_Mutation_p.D411N|GUCY1A3_uc003iox.3_Missense_Mutation_p.D411N|GUCY1A3_uc010iqe.3_Missense_Mutation_p.D176N|GUCY1A3_uc003ioy.3_Missense_Mutation_p.D411N|GUCY1A3_uc003ioz.3_Missense_Mutation_p.D176N|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.D411N	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	411					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.R410>?(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TGCACTGAGGGATGTGGTCTT	0.517000														56			23		0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461349	11461349	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:11461349C>T	uc001qzf.1	-	2	602	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	PRB4_uc001qzt.3_Missense_Mutation_p.E190K	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	253	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTGTTGCCTTCTTGTTGGGGT	0.602000										HNSCC(22;0.051)				252			83		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55174728	55174728	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55174728C>T	uc010ooe.1	+	22	4033	c.3709C>T	c.(3709-3711)Cgt>Tgt	p.R1237C	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Missense_Mutation_p.R755C|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.R438C	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1237						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						GACAGAAGATCGTCTGAATGA	0.517000														78			25		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15726582	15726582	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15726582C>T	uc002nbi.3	+	1	219	c.155C>T	c.(154-156)cCg>cTg	p.P52L	CYP4F8_uc010xoi.1_Missense_Mutation_p.P52L|CYP4F8_uc010xoj.2_Missense_Mutation_p.R14C	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	52					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CGGTGTTTCCCGCAGCCCCGG	0.642000														118			8		0	0	1	0	0
DEFB115	245929	broad.mit.edu	37	20	29847325	29847325	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:29847325G>A	uc002wvp.1	+	1	157	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	Homo sapiens defensin, beta 115 (DEFB115), mRNA.	53					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			CAAAGAAATTGAGAGGAAGAA	0.353000														39			17		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121293253	121293253	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:121293253C>T	uc003yox.3	+	30	4044	c.3779C>T	c.(3778-3780)cCa>cTa	p.P1260L	COL14A1_uc003yoz.3_Missense_Mutation_p.P225L	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1260	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATGTGTTTCCATGTTACCAA	0.368000														111			23		0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151474779	151474779	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151474779G>A	uc003ezc.3	+	5	724	c.604_splice	c.e5-1	p.V202_splice	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Splice_Site	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	202						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TATATTTTCAGGTGCAGAATG	0.303000														52			26		0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32798475	32798475	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32798475G>A	uc011dqf.1	-	7	1503	c.1381C>T	c.(1381-1383)Ccc>Tcc	p.P461S	TAP2_uc003ocb.1_Missense_Mutation_p.P461S|TAP2_uc003occ.3_Missense_Mutation_p.P461S|TAP2_uc003ocd.3_Missense_Mutation_p.P461S	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	461					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										AGAGTGGTGGGGGCAAGCGTG	0.537000														27			18		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21145600	21145600	+	Silent	SNP	C	T	T	rs141077519		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21145600C>T	uc010vbe.2	-	6	1062	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	DNAH3_uc002die.2_Silent_p.L325L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	354	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAGTTCTTTCAGCCTGAGCA	0.527000														102			29		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160755484	160755484	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:160755484C>T	uc002ubb.4	-	1	255	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	LY75-CD302_uc010fos.3_Missense_Mutation_p.E61K|LY75-CD302_uc002ubc.4_Missense_Mutation_p.E61K|LY75-CD302_uc010fot.2_Missense_Mutation_p.E61K	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	61	Ricin B-type lectin.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TCCTCAGTTTCATCACAGTCG	0.478000														117			17		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216405294	216405294	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:216405294C>T	uc001hku.1	-	14	3380	c.2993_splice	c.e14+1	p.R998_splice	USH2A_uc001hkv.3_Splice_Site_p.R998_splice	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	998	Laminin EGF-like 9.				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)		TAAAGATGTACCTTCCAGTCT	0.363000										HNSCC(13;0.011)				179			34		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16355714	16355714	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16355714G>A	uc001axu.3	+	11	1227	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.D340N|CLCNKA_uc001axv.3_Missense_Mutation_p.D383N|CLCNKA_uc010obx.1_Missense_Mutation_p.D30N|CLCNKA_uc010oby.1_Missense_Mutation_p.R112Q|CLCNKA_uc021ogl.1_Missense_Mutation_p.D30N	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	383					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)	CGAGGAGCTCGACCCCCAGCA	0.622000														68			28		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4873157	4873157	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4873157G>A	uc001qne.1	+	8	1629	c.1537G>A	c.(1537-1539)Gga>Aga	p.G513R		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	513	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CTTGGATCAGGGACCCGTTCC	0.502000														85			42		0	0	1	0	0
PRMT1	3276	broad.mit.edu	37	19	50188094	50188094	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50188094C>T	uc010enf.2	+	6	768	c.639C>T	c.(637-639)atC>atT	p.I213I	PRMT1_uc021uxu.1_Silent_p.I189I|PRMT1_uc002ppe.3_Silent_p.I195I|PRMT1_uc021uxv.1_Intron|PRMT1_uc010yba.2_Non-coding_Transcript	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	Homo sapiens protein arginine methyltransferase 1 (PRMT1), transcript variant 1, mRNA.	194						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		ACTACAAGATCCACTGTGAGC	0.692000											OREG0025627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			10		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57745930	57745930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:57745930G>A	uc010bfw.3	+	7	2297	c.2104G>A	c.(2104-2106)Gat>Aat	p.D702N	CGNL1_uc002aeg.3_Missense_Mutation_p.D702N	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	702						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGAGATCAGGGATCTCCAGGA	0.537000														27			5		0	0	1	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43591196	43591196	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:43591196G>A	uc002lbp.4	-	4	401	c.305C>T	c.(304-306)gCc>gTc	p.A102V	PSTPIP2_uc002lbq.4_Missense_Mutation_p.A102V	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	102						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CATCTTCCTGGCCTCTTCTCT	0.373000														218			75		0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	32891781	32891781	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:32891781C>T	uc002rom.3	+	6	1158	c.885C>T	c.(883-885)gtC>gtT	p.V295V	TTC27_uc010ymx.2_Silent_p.V245V	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	295							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AAGGGGATGTCCTTTCAAATT	0.373000														86			38		0	0	1	0	0
GLIPR1	11010	broad.mit.edu	37	12	75874745	75874745	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:75874745G>A	uc001sxs.3	+	0	233	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	GLIPR1_uc009zsb.1_Missense_Mutation_p.E29K	NM_006851	NP_006842	P48060	GLIP1_HUMAN	Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA.	29					cellular lipid metabolic process	extracellular region|integral to membrane		p.E29K(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						GCCAGATATCGAAAATGAAGA	0.403000														76			14		0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44449852	44449852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:44449852C>T	uc003gwu.3	-	0	973	c.689G>A	c.(688-690)cGg>cAg	p.R230Q		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	230						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CGCCACACGCCGGAATTTGGC	0.721000										HNSCC(17;0.042)				10			5		0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7373425	7373425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7373425C>T	uc003mxl.2	-	4	2158	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.E407K|CAGE1_uc003mxj.3_Missense_Mutation_p.E298K|CAGE1_uc003mxk.2_Missense_Mutation_p.E543K	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	543								p.K542N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TTTGCATTCTCATTTTTTACT	0.333000														45			4		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103488537	103488537	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:103488537C>T	uc001dum.3	-	7	1360	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.E336K|COL11A1_uc001dun.3_Missense_Mutation_p.E297K|COL11A1_uc009weh.3_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	336	Nonhelical 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)		GTAAATATTTCTTCAACTGGA	0.318000														36			12		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236902620	236902620	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:236902620C>T	uc001hyf.2	+	9	1099	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	ACTN2_uc001hyg.2_Missense_Mutation_p.R91C|ACTN2_uc009xgi.1_Missense_Mutation_p.R299C|ACTN2_uc010pxu.1_Intron	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	299					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATGGATTCGTCGCACGATCCC	0.527000														145			50		0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43351929	43351929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43351929G>A	uc001zqq.3	-	7	1022	c.956C>T	c.(955-957)tCc>tTc	p.S319F	UBR1_uc010udk.1_Missense_Mutation_p.S319F	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	319					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GTTCATCCAGGAACCAAGACG	0.333000														100			14		0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69965947	69965947	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:69965947C>T	uc001suy.3	+	8	972	c.462C>T	c.(460-462)ccC>ccT	p.P154P	FRS2_uc001suz.3_Silent_p.P154P|FRS2_uc009zrj.3_Silent_p.P154P|FRS2_uc009zrk.3_Silent_p.P154P	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 2 (FRS2), transcript variant 1, mRNA.	154					G-protein coupled receptor protein signaling pathway|activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CCCGATATCCCTCATTTGGAG	0.483000														79			25		0	0	1	0	0
TROVE2	6738	broad.mit.edu	37	1	193046046	193046046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:193046046C>T	uc001gss.3	+	4	1328	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	TROVE2_uc001gsu.2_Missense_Mutation_p.R43C|TROVE2_uc001gsv.2_Missense_Mutation_p.R318C|TROVE2_uc009wyp.3_Missense_Mutation_p.R318C|TROVE2_uc001gsw.3_Missense_Mutation_p.R318C|TROVE2_uc009wyq.3_Missense_Mutation_p.R318C|TROVE2_uc001gsx.2_Missense_Mutation_p.R318C	NM_001173524	NP_004591	P10155	RO60_HUMAN	Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA.	318	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	RNA binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TTTCTAGGCTCGTATACATCC	0.328000														41			4		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77455005	77455005	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77455005C>T	uc004ajl.1	-	4	717	c.479G>A	c.(478-480)aGc>aAc	p.S160N	TRPM6_uc004ajk.1_Missense_Mutation_p.S155N|TRPM6_uc022bib.1_Missense_Mutation_p.S155N|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.S160N|TRPM6_uc010mpd.1_Missense_Mutation_p.S160N|TRPM6_uc010mpe.1_Missense_Mutation_p.S160N|TRPM6_uc004ajn.1_Missense_Mutation_p.S160N	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	160					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAAACCTTGGCTGAAAATCTC	0.453000														102			19		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762058	92762058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92762058C>T	uc003umh.1	-	4	4443	c.3227G>A	c.(3226-3228)aGa>aAa	p.R1076K	SAMD9L_uc003umj.1_Missense_Mutation_p.R1076K|SAMD9L_uc003umi.1_Missense_Mutation_p.R1076K|SAMD9L_uc010lfb.1_Missense_Mutation_p.R1076K|SAMD9L_uc003umk.1_Missense_Mutation_p.R1076K|SAMD9L_uc010lfc.1_Missense_Mutation_p.R1076K|SAMD9L_uc010lfd.1_Missense_Mutation_p.R1076K|SAMD9L_uc022ahh.1_Missense_Mutation_p.R1076K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1076										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGGGAATCGTCTACTTCCTGC	0.428000														132			56		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20556494	20556494	+	Silent	SNP	G	A	A	rs141823499		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20556494G>A	uc002dhj.4	-	10	1476	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	ACSM2B_uc002dhk.4_Silent_p.I422I|ACSM2B_uc010bwf.1_Silent_p.I422I	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	422					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.G421G(1)|p.G421D(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGCCAGAGAAGATGCCTATAG	0.517000														80			22		0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205592886	205592886	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205592886G>A	uc001hcy.2	-	1	1375	c.125C>T	c.(124-126)gCt>gTt	p.A42V	SLC45A3_uc021pid.1_Non-coding_Transcript|SLC45A3_uc001hcz.3_Missense_Mutation_p.A42V|SLC45A3_uc010prn.1_Missense_Mutation_p.A131V|SLC45A3_uc010pro.1_Missense_Mutation_p.A315V|SLC45A3_uc010prp.1_Non-coding_Transcript|SLC45A3_uc010prq.1_Non-coding_Transcript	NM_001973	NP_001964	Q96JT2	S45A3_HUMAN	Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA.	0					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCAGAGACGAGCCACCTCTTC	0.468000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									161			71		0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128186115	128186115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:128186115G>A	uc002tol.3	+	8	1069	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	PROC_uc002tok.3_Missense_Mutation_p.E327K|PROC_uc010yzi.2_Missense_Mutation_p.E383K|PROC_uc010yzj.2_Missense_Mutation_p.E222K|PROC_uc010yzk.2_Missense_Mutation_p.E382K	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	327	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CGGCCTTGCAGAGCGCGAGCT	0.657000														136			45		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2778188	2778188	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2778188G>A	uc009zdu.1	+	39	5170	c.4857G>A	c.(4855-4857)agG>agA	p.R1619R	CACNA1C_uc001qkc.2_Silent_p.R1571R|CACNA1C_uc001qjz.2_Silent_p.R1571R|CACNA1C_uc001qkd.2_Silent_p.R1571R|CACNA1C_uc001qke.2_Silent_p.R1560R|CACNA1C_uc001qkf.2_Silent_p.R1560R|CACNA1C_uc009zdw.1_Silent_p.R1593R|CACNA1C_uc001qkg.2_Silent_p.R1558R|CACNA1C_uc001qkh.2_Silent_p.R1560R|CACNA1C_uc001qkl.2_Silent_p.R1619R|CACNA1C_uc001qkj.2_Silent_p.R1571R|CACNA1C_uc001qkk.2_Silent_p.R1571R|CACNA1C_uc001qkn.2_Silent_p.R1571R|CACNA1C_uc001qkm.2_Silent_p.R1560R|CACNA1C_uc001qko.2_Silent_p.R1591R|CACNA1C_uc001qkp.2_Silent_p.R1571R|CACNA1C_uc001qkq.2_Silent_p.R1599R|CACNA1C_uc001qku.2_Silent_p.R1571R|CACNA1C_uc001qkr.2_Silent_p.R1588R|CACNA1C_uc001qks.2_Silent_p.R1571R|CACNA1C_uc001qkt.2_Silent_p.R1571R|CACNA1C_uc009zdv.1_Silent_p.R1568R|CACNA1C_uc001qkb.2_Silent_p.R1571R|CACNA1C_uc001qki.1_Silent_p.R1307R|CACNA1C_uc010sea.1_Silent_p.R262R	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1619					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGGCCCTGAGGATCAAAACAG	0.572000														80			40		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5040786	5040786	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:5040786G>A	uc002cye.2	+	4	544	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	122	PRELI/MSF1.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGAGAATGAAGACTGGACTTG	0.572000														37			10		0	0	1	0	0
FAM71D	161142	broad.mit.edu	37	14	67664956	67664956	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:67664956G>A	uc001xja.2	+	2	368	c.78G>A	c.(76-78)ccG>ccA	p.P26P	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.	26										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)		CCCATGATCCGAGAGATCTTC	0.428000														116			55		0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3520891	3520891	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3520891C>T	uc002wim.2	+	2	607	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C	ATRN_uc002wil.2_Missense_Mutation_p.R173C|ATRN_uc021vzz.1_Missense_Mutation_p.R57C	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	173	CUB.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.R173C(2)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AATGAGACTTCGTTTCAATCA	0.308000														234			52		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185969700	185969700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:185969700C>T	uc003fqa.3	-	18	2146	c.1609G>A	c.(1609-1611)Ggg>Agg	p.G537R	DGKG_uc003fqb.3_Missense_Mutation_p.G498R|DGKG_uc003fqc.3_Missense_Mutation_p.G512R|DGKG_uc011brx.2_Missense_Mutation_p.G478R	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	537	DAGKc.				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	p.G537W(2)		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)	AAGCTGCCCCCTTCATAACCT	0.527000														93			11		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33552743	33552743	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:33552743G>A	uc001iwx.4	-	3	1012	c.489C>T	c.(487-489)ttC>ttT	p.F163F	NRP1_uc001iwv.4_Silent_p.F163F|NRP1_uc001iwy.4_Silent_p.F163F|NRP1_uc009xlz.3_Silent_p.F163F|NRP1_uc001iww.4_5'UTR|NRP1_uc001iwz.2_Silent_p.F163F|NRP1_uc001ixa.2_Silent_p.F163F|NRP1_uc001ixb.2_Silent_p.F163F|NRP1_uc001ixc.1_Silent_p.F163F	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	163	CUB 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	ATTTTTCAGGGAATCCGGGGG	0.423000														226			67		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871400	51871400	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:51871400G>A	uc002xwo.3	+	1	2290	c.1403G>A	c.(1402-1404)aGg>aAg	p.R468K	TSHZ2_uc021wex.1_Missense_Mutation_p.R465K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	468					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAAAAGAAAGGCCAGAGGAA	0.423000														130			32		0	0	1	0	0
TEX29	121793	broad.mit.edu	37	13	111992259	111992259	+	Silent	SNP	C	T	T	rs34403563	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:111992259C>T	uc001vsa.3	+	3	348	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	Homo sapiens chromosome 13 open reading frame 16 (C13orf16), mRNA.	73						integral to membrane											CTGGGGCCTTCGTCATCACCA	0.522000														124			47		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21402245	21402245	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:21402245G>A	uc002kuq.3	+	19	2420	c.2334G>A	c.(2332-2334)ggG>ggA	p.G778G	LAMA3_uc002kur.3_Silent_p.G778G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	778					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAATGTAGGGAAGTCAAGTG	0.383000														74			32		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984557	85984557	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:85984557G>A	uc010qmc.2	-	1	432	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F	LRIT2_uc001kcy.3_Missense_Mutation_p.L142F	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	142						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGCTCAGGGAGTGCATCAATC	0.527000														123			22		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164776773	164776773	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:164776773C>T	uc003fei.3	-	11	1439	c.1376G>A	c.(1375-1377)gGa>gAa	p.G459E		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	459	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGGTGTACTTCCATCTGACTC	0.373000										HNSCC(35;0.089)				45			9		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46067533	46067533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:46067533C>T	uc003gxb.3	-	3	542	c.390G>A	c.(388-390)atG>atA	p.M130I		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	130					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TAAGCACTTTCATGGTACTAT	0.313000														44			16		0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887590	97887590	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:97887590G>A	uc011bgu.2	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GTTCTCACAGGATTTTTATAT	0.393000														191			64		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394087	233394087	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233394087C>T	uc001hvl.2	-	4	1756	c.1521G>A	c.(1519-1521)ggG>ggA	p.G507G	PCNXL2_uc009xfu.3_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.	507						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)				GGCCTTCCTTCCCCACCTTAG	0.547000														49			18		0	0	1	0	0
FOLR1	2348	broad.mit.edu	37	11	71907125	71907125	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:71907125G>A	uc001orz.2	+	5	954	c.678G>A	c.(676-678)gcG>gcA	p.A226A	FOLR1_uc001osa.2_Silent_p.A226A|FOLR1_uc001osb.2_Silent_p.A226A|FOLR1_uc001osd.2_Silent_p.A226A	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	226					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						AGGAGGTGGCGAGGTTCTATG	0.627000														52			26		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084728	53084728	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:53084728C>T	uc003xqz.2	-	4	849	c.693G>A	c.(691-693)ttG>ttA	p.L231L	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.L196L|ST18_uc011lds.1_Silent_p.L136L|ST18_uc003xra.2_Silent_p.L231L|ST18_uc003xrb.2_Silent_p.L231L	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	231						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CAGGAACTTCCAATAGGTCTT	0.418000														69			18		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153056708	153056708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:153056708G>A	uc011dcy.2	+	6	1073	c.1046G>A	c.(1045-1047)aGa>aAa	p.R349K	GRIA1_uc003lva.4_Missense_Mutation_p.R339K|GRIA1_uc003luy.4_Missense_Mutation_p.R339K|GRIA1_uc003luz.4_Missense_Mutation_p.R244K|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R259K|GRIA1_uc011dcx.2_Missense_Mutation_p.R270K|GRIA1_uc011dcz.2_Missense_Mutation_p.R349K|GRIA1_uc010jia.1_Missense_Mutation_p.R319K	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	339					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GACATCCAGAGAGCTCTGCAG	0.517000														36			10		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64222206	64222206	+	Missense_Mutation	SNP	C	T	T	rs138448367	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:64222206C>T	uc002jfn.4	-	2	337	c.278G>A	c.(277-279)gGa>gAa	p.G93E		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	93	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	p.G93R(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GCGTACGGCTCCATTTTCTAA	0.358000														58			17		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807786	20807786	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:20807786G>T	uc002npb.1	-	3	1047	c.897C>A	c.(895-897)acC>acA	p.T299T	ZNF626_uc002npc.1_Silent_p.T223T	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTGTAGTAAGGGTTGAGGACC	0.368000														140			16		6.31663e-08	6.33358e-08	1	1	0
ITGAX	3687	broad.mit.edu	37	16	31374539	31374540	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31374539_31374540GG>AA	uc002ebt.3	+	13	1621_1622	c.1554_1555GG>AA	c.(1552-1557)tggggt>tgAAgt	p.518_519WG>*S	ITGAX_uc002ebu.1_Nonsense_Mutation_p.518_519WG>*S|ITGAX_uc010vfk.1_Nonsense_Mutation_p.168_169WG>*S	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	518					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCCACCCCTGGGGTCGCTTTGG	0.639000														101			56		0	0	1	0	0
CD74	972	broad.mit.edu	37	5	149792299	149792299	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149792299C>T	uc003lsc.3	-	0	201	c.14G>A	c.(13-15)aGa>aAa	p.R5K	CD74_uc003lsd.3_Missense_Mutation_p.R5K|CD74_uc003lse.3_Missense_Mutation_p.R5K	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 1, mRNA.	5					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex	MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTCCTGCTTCTCCTCCTGTG	0.607000			T	ROS1	NSCLC									222			97		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481105	140481105	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140481105C>T	uc003lio.3	+	0	872	c.872C>T	c.(871-873)aCt>aTt	p.T291I	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	291	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCGCAAAACTTTTCAGCTA	0.373000														55			26		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101606018	101606018	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:101606018G>A	uc002bwr.3	+	31	5695	c.5376G>A	c.(5374-5376)ttG>ttA	p.L1792L	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1792					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGCGGCCCTTGGACACGGAAC	0.642000														49			9		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762896	24762896	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:24762896G>A	uc001iru.4	+	5	1989	c.1586G>A	c.(1585-1587)gGa>gAa	p.G529E	KIAA1217_uc001irs.3_Missense_Mutation_p.G449E|KIAA1217_uc001irt.4_Missense_Mutation_p.G529E|KIAA1217_uc010qcy.2_Missense_Mutation_p.G529E|KIAA1217_uc010qcz.2_Missense_Mutation_p.G529E|KIAA1217_uc001irv.1_Missense_Mutation_p.G379E|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.G247E|KIAA1217_uc001irz.3_Missense_Mutation_p.G247E|KIAA1217_uc001irx.3_Missense_Mutation_p.G247E|KIAA1217_uc001iry.3_Missense_Mutation_p.G247E	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	529					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGCGCTGCAGGATTATCCAGC	0.552000														75			22		0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	431895	431895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:431895C>T	uc001lpi.2	-	5	503	c.418G>A	c.(418-420)Gat>Aat	p.D140N	ANO9_uc001lph.2_5'Flank|ANO9_uc010qvv.1_5'UTR	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	140						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TTCATCAGATCCTCGAAGGTC	0.677000														40			6		0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85397184	85397184	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:85397184G>A	uc001dkm.3	-	11	1644	c.1403C>T	c.(1402-1404)aCc>aTc	p.T468I	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	468						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TTGGGCAAAGGTTGCAAACAT	0.388000														107			6		0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743580	102743580	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:102743580G>A	uc001krw.2	+	13	2608	c.2224G>A	c.(2224-2226)Gag>Aag	p.E742K	SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc001krx.3_Intron|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron|MRPL43_uc001krz.1_Intron|MRPL43_uc001ksa.1_Intron|MRPL43_uc001ksb.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	737					cell differentiation|nervous system development	integral to membrane	receptor activity	p.G741R(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GTGTCCTGGAGAGGAAGATGA	0.672000														9			5		0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23836763	23836763	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:23836763G>A	uc002nri.3	-	3	1154	c.972C>T	c.(970-972)tcC>tcT	p.S324S		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	324					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)				TAAGGGTTGAGGATTGGGTAA	0.368000														85			15		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182363398	182363398	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:182363398C>T	uc002unu.3	+	14	2352	c.1589C>T	c.(1588-1590)cCa>cTa	p.P530L	ITGA4_uc010frj.1_Missense_Mutation_p.P12L	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	530					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GCAGAGTCTCCACCAAGATTC	0.348000														60			18		0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159092246	159092246	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:159092246C>T	uc003ipq.4	-	1	689	c.282G>A	c.(280-282)gaG>gaA	p.E94E	AK096792_uc003ipu.1_5'Flank|FAM198B_uc003ipp.4_Silent_p.E94E|FAM198B_uc003ipr.4_Silent_p.E94E|FAM198B_uc003ips.3_Silent_p.E94E|AK126266_uc003ipt.1_Non-coding_Transcript	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	94						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGCCCTGGGACTCTGGAGGGG	0.632000														64			25		0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107267485	107267485	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107267485C>T	uc011lvm.2	+	0	942	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATACTGCCTTCATTTCCATCC	0.338000														52			17		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41465770	41465770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41465770G>A	uc002yyq.1	-	20	4180	c.3728C>T	c.(3727-3729)tCg>tTg	p.S1243L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1243	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.D1242N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTAGGAAAACGAGTCGGGAGA	0.478000														49			19		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42231185	42231185	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42231185G>A	uc002orl.3	+	8	2179	c.2058G>A	c.(2056-2058)ggG>ggA	p.G686G	CEACAM5_uc002orj.1_Silent_p.G685G	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	686						anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TCTCAGCTGGGGCCACTGTCG	0.483000														386			150		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138400170	138400170	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:138400170G>A	uc002tva.1	+	19	3822	c.3822G>A	c.(3820-3822)tgG>tgA	p.W1274*	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.R1274L(1)		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)		GCTACAGCTGGGTCCTTGGCA	0.488000														76			33		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059369	248059369	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248059369C>T	uc010pzb.2	+	0	481	c.481C>T	c.(481-483)Cct>Tct	p.P161S	OR2W3_uc001idp.1_Missense_Mutation_p.P161S	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCCATGTCTCCTGTGACCCT	0.647000														65			29		0	0	1	0	0
ERLIN1	10613	broad.mit.edu	37	10	101912014	101912014	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:101912014G>A	uc001kqn.4	-	10	1272	c.921C>T	c.(919-921)ttC>ttT	p.F307F	ERLIN1_uc001kqo.4_Silent_p.F307F|ERLIN1_uc010qpm.2_Silent_p.F223F	NM_006459	NP_006450	O75477	ERLN1_HUMAN	Homo sapiens ER lipid raft associated 1 (ERLIN1), mRNA.	305					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		AGGAGTCCACGAACATGTTAG	0.458000														76			17		0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107379817	107379817	+	Silent	SNP	G	A	A	rs74950199		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107379817G>A	uc011lvr.2	-	0	669	c.669C>T	c.(667-669)tcC>tcT	p.S223S		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGAGGATGCTGGAAATGATTA	0.443000														66			37		0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580894	580894	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:580894C>T	uc002kko.1	+	0	526	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	162	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						AGGAGGAGTTCCTTCGGATCA	0.532000														45			20		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178416279	178416279	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178416279G>A	uc003mjr.3	-	4	1319	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	GRM6_uc010jla.1_5'UTR|GRM6_uc003mjs.1_5'UTR	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	380					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGCATTTGCGGGTGGAATCGT	0.617000														46			10		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40980903	40980903	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:40980903G>A	uc002xkg.3	-	9	1767	c.1583C>T	c.(1582-1584)tCg>tTg	p.S528L	PTPRT_uc010ggj.3_Missense_Mutation_p.S528L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	528	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGGTCCAGCGAGCCGACAGC	0.532000														56			34		0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	169930250	169930250	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169930250G>A	uc001ggv.3	-	17	2381	c.2110C>T	c.(2110-2112)Cga>Tga	p.R704*	KIFAP3_uc021pep.1_Nonsense_Mutation_p.R664*|KIFAP3_uc010ply.2_Nonsense_Mutation_p.R626*|KIFAP3_uc001ggw.2_Nonsense_Mutation_p.R660*|KIFAP3_uc010plx.2_Nonsense_Mutation_p.R406*	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN	Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.	704					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	p.R704*(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGCTCAATTCGATCATCACCA	0.408000														67			36		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107844633	107844633	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:107844633G>A	uc022ccg.1	+	25	2161	c.1959G>A	c.(1957-1959)ggG>ggA	p.G653G	COL4A5_uc004enz.1_Silent_p.G653G|COL4A5_uc004eob.1_Silent_p.G261G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	653	Triple-helical region.		G -> R (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTCCTAAAGGGGATCCAGGTC	0.403000									Alport syndrome with Diffuse Leiomyomatosis					13			9		0	0	1	0	0
KARS	3735	broad.mit.edu	37	16	75675519	75675519	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:75675519G>A	uc002feq.3	-	1	213	c.165C>T	c.(163-165)gcC>gcT	p.A55A	KARS_uc002fer.3_Silent_p.A83A|KARS_uc010cgz.3_5'Flank|KARS_uc010cha.1_Silent_p.A92A	NM_005548	NP_005539	Q15046	SYK_HUMAN	Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	55					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TGTGGTTGGTGGCAGCAGCAG	0.537000														50			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179600700	179600700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179600700C>T	uc021vsy.1	-	46	10966	c.10741G>A	c.(10741-10743)Gaa>Aaa	p.E3581K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E242K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4508	Ig-like 21.						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)			CAAATGGTTTCTATCACAGGA	0.463000														65			31		0	0	1	0	0
NR6A1	2649	broad.mit.edu	37	9	127302413	127302413	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:127302413C>T	uc004bor.1	-	4	673	c.495G>A	c.(493-495)gaG>gaA	p.E165E	NR6A1_uc004boq.1_Silent_p.E161E|NR6A1_uc010mwq.1_Silent_p.E161E	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA.	165					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						AGTGATTGGCCTCTTCCTCAA	0.512000														140			27		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86355248	86355248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:86355248C>T	uc001dlj.3	-	31	3046	c.2971G>A	c.(2971-2973)Gag>Aag	p.E991K	COL24A1_uc001dli.3_Missense_Mutation_p.E127K|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.E291K|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	991	Collagen-like 8.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTACTGGCTCTCCTGGAAGT	0.378000														75			33		0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26860664	26860664	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26860664G>A	uc003acl.3	-	10	1591	c.932C>T	c.(931-933)cCc>cTc	p.P311L	HPS4_uc003aci.3_Missense_Mutation_p.P306L|HPS4_uc003acj.3_Missense_Mutation_p.P175L|HPS4_uc003ack.3_Missense_Mutation_p.P102L|HPS4_uc003acn.3_Missense_Mutation_p.P157L|HPS4_uc010gvd.1_Missense_Mutation_p.P329L|HPS4_uc003ach.3_Missense_Mutation_p.P46L	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	311					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AGGGGATGTGGGATCTGGGGT	0.577000									Hermansky-Pudlak syndrome					78			24		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9034648	9034648	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:9034648C>T	uc003brf.1	-	19	3176	c.2500G>A	c.(2500-2502)Gac>Aac	p.D834N	SRGAP3_uc003brg.1_Missense_Mutation_p.D810N	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	834					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GACTGGAGGTCGTTTTTGGAA	0.582000			T	RAF1	pilocytic astrocytoma									64			20		0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1755004	1755004	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:1755004C>T	uc009zdq.3	+	4	908	c.666C>T	c.(664-666)gtC>gtT	p.V222V	WNT5B_uc001qjj.3_Silent_p.V222V|WNT5B_uc001qjk.3_Silent_p.V222V|WNT5B_uc001qjl.3_Silent_p.V222V	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	222					Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GCCACGGCGTCTCGGGGTCCT	0.617000														78			18		0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25735272	25735272	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:25735272G>A	uc001bkf.3	-	1	323	c.237C>T	c.(235-237)ttC>ttT	p.F79F	RHCE_uc001bkg.3_Silent_p.F79F|RHCE_uc001bkh.3_Silent_p.F79F|RHCE_uc001bki.3_Silent_p.F79F|RHCE_uc001bkj.3_Silent_p.F63F	NM_020485	NP_065231	P18577	RHCE_HUMAN	Homo sapiens Rh blood group, CcEe antigens (RHCE), transcript variant 1, mRNA.	79						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		TGAAGAGGTTGAAGGCCACAC	0.597000														48			18		0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58074568	58074568	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:58074568C>T	uc002ena.3	+	4	1849	c.876C>T	c.(874-876)ccC>ccT	p.P292P		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	292					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						TCAAGCTGCCCGAGGACGATC	0.627000														63			28		0	0	1	0	0
LOC150776	150776	broad.mit.edu	37	2	132277224	132277224	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:132277224C>T	uc002tsz.3	+	1	681	c.234C>T	c.(232-234)ccC>ccT	p.P78P	LOC150776_uc002tsy.3_Non-coding_Transcript					Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane pseudogene (LOC150776), non-coding RNA.																		TCCTTACGCCCCTGGGGCGGT	0.622000														23			6		0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3672097	3672097	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3672097C>T	uc001akv.2	+	2	600	c.519C>T	c.(517-519)ttC>ttT	p.F173F		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	173										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)		AGGACCTGTTCTTGGCCAGGC	0.617000														226			102		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20801753	20801753	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:20801753C>T	uc001reh.2	+	12	2737	c.2697C>T	c.(2695-2697)ttC>ttT	p.F899F	PDE3A_uc021qwa.1_Silent_p.F577F	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	899	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATTTCCGTTTCCTTGTCATTG	0.403000														102			24		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1914014	1914014	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1914014G>A	uc002qxe.3	-	12	2642	c.1815C>T	c.(1813-1815)ctC>ctT	p.L605L	MYT1L_uc002qxd.3_Silent_p.L603L|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	605					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTGGGTACCTGAGCACGCGGT	0.637000														27			26		0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47406492	47406492	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:47406492C>T	uc002zhu.1	+	3	583	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	161	N-terminal globular domain.|VWFA 1.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CGACGGGCACCCCCTGGAGGG	0.617000														6			3		0	0	1	0	0
JKAMP	51528	broad.mit.edu	37	14	59954436	59954436	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:59954436G>A	uc001xei.4	+	2	685	c.183G>A	c.(181-183)caG>caA	p.Q61Q	JKAMP_uc001xef.4_Silent_p.Q47Q|JKAMP_uc001xeh.4_Silent_p.Q41Q|JKAMP_uc001xeg.4_Silent_p.Q55Q|JKAMP_uc010try.2_5'UTR|JKAMP_uc001xej.4_5'UTR	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	Homo sapiens JNK1/MAPK8-associated membrane protein (JKAMP), transcript variant 2, mRNA.	62					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						AATATTGTCAGCCTTGCACAG	0.358000														193			88		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70974910	70974910	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70974910G>A	uc001swb.4	-	7	1860	c.1830C>T	c.(1828-1830)ttC>ttT	p.F610F	PTPRB_uc010sto.2_Silent_p.F610F|PTPRB_uc010stp.2_Silent_p.F520F|PTPRB_uc001swc.4_Silent_p.F828F|PTPRB_uc001swa.4_Silent_p.F828F|PTPRB_uc001swd.4_Silent_p.F827F|PTPRB_uc009zrr.2_Silent_p.F707F	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	610	Fibronectin type-III 7.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAGAGAGTGGAAGCTGTATC	0.473000														113			49		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92560267	92560267	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:92560267C>T	uc010tif.2	+	5	1723	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	453						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGGAATTGATCCTGTGATAAA	0.353000														63			16		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938645	38938645	+	Silent	SNP	G	A	A	rs145915658		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38938645G>A	uc021wvy.1	-	13	2293	c.2094C>T	c.(2092-2094)gtC>gtT	p.V698V	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	698					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAAGGGCTCCGACAGAGTTGC	0.433000														54			16		0	0	1	0	0
LOC494150	0	broad.mit.edu	37	12	51518800	51518800	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51518800G>A	uc010snb.1	-	0	466	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	TFCP2_uc001rxw.3_Intron|TFCP2_uc001rxv.2_Intron|TFCP2_uc009zlx.2_Intron|TFCP2_uc009zly.1_Intron					Homo sapiens cDNA FLJ76366 complete cds, highly similar to Homo sapiens prohibitin pseudogene, mRNA.																		GCATCAAAGCGAGCCACCACT	0.547000														9			7		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883024	228883024	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228883024C>T	uc002vpq.2	-	6	2593	c.2546G>A	c.(2545-2547)aGt>aAt	p.S849N	SPHKAP_uc002vpp.2_Missense_Mutation_p.S849N|SPHKAP_uc010zlx.1_Missense_Mutation_p.S849N	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	849						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCATTCTCACTGTGATGAGG	0.498000														88			42		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836064	12836064	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12836064C>T	uc001aui.3	+	1	693	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	222										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTATAAGGTTCGCCCCTTACC	0.527000														126			62		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36109295	36109295	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:36109295C>T	uc003gsq.2	-	26	4515	c.4177G>A	c.(4177-4179)Gaa>Aaa	p.E1393K		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1393	Ras-associating.				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						AGTACATTTTCCTTGTAGTGA	0.343000														99			43		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73069424	73069424	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73069424G>A	uc004ebm.1	-	0		c.3165C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GCTCTCAATTGACATTCCCTA	0.393000														13			17		0	0	1	0	0
SLC27A4	10999	broad.mit.edu	37	9	131118023	131118023	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131118023C>T	uc004but.3	+	11	2007	c.1722C>T	c.(1720-1722)ccC>ccT	p.P574P	SLC27A4_uc004buu.3_Silent_p.P168P	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	574					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						AGGAACTGCCCCTGTATGCGC	0.652000														74			21		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110737331	110737331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110737331C>T	uc009wfq.3	+	8	1891	c.1430C>T	c.(1429-1431)aCc>aTc	p.T477I	SLC6A17_uc001dze.1_Missense_Mutation_p.T75I	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	477					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ATGATCGGGACCATGGCAGGC	0.602000														58			14		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61585240	61585240	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61585240C>T	uc010xev.2	+	3	366	c.276C>T	c.(274-276)ttC>ttT	p.F92F	SERPINB2_uc010xew.2_Silent_p.F92F	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	107					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)	ACTCTGATTTCCAAACACTTA	0.353000														71			22		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939636	12939636	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12939636C>T	uc001aun.2	-	3	1237	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	389										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATGGGATTTCCACAGAAGCT	0.522000														286			94		0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13534810	13534810	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:13534810C>T	uc001imm.2	-	4	779	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	BEND7_uc001imo.4_Missense_Mutation_p.R174Q	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	213							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						ATTTCTCTTTCGTGAGACAGC	0.433000														114			31		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367888	107367888	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107367888G>A	uc011lvq.2	-	0	21	c.21C>T	c.(19-21)acC>acT	p.T7T		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCACCAGAATGGTGTGGTTTT	0.368000														88			22		0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64263654	64263654	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:64263654G>A	uc002amr.3	-	3	452	c.421C>T	c.(421-423)Cac>Tac	p.H141Y	DAPK2_uc010uim.2_Non-coding_Transcript|DAPK2_uc010bgu.1_Missense_Mutation_p.H131Y	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	141	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		TTCTTTGTGTGAAGGTAGTTC	0.483000														338			24		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679638	100679639	+	Missense_Mutation	DNP	GG	AA	AA	rs145386724		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100679638_100679639GG>AA	uc003uxp.1	+	2	4994_4995	c.4941_4942GG>AA	c.(4939-4944)gaggct>gaAAct	p.A1648T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1648	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGTCCTGAGGCTAGCACCCT	0.505000														516			130		0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68396090	68396090	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:68396090G>A	uc003xxq.4	-	7	1007	c.751C>T	c.(751-753)Cga>Tga	p.R251*	CPA6_uc003xxr.4_Nonsense_Mutation_p.R103*|CPA6_uc003xxs.2_Nonsense_Mutation_p.R251*	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	251					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.R251Q(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CTCCAAAATCGATCCTAGACA	0.393000														138			70		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995778	140995778	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140995778C>T	uc004fbt.3	+	3	2912	c.2588C>T	c.(2587-2589)tCa>tTa	p.S863L	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S522L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	863							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)					TCCTCCACTTCATTGAGCCCA	0.517000										HNSCC(15;0.026)				66			109		0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	14066290	14066290	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:14066290C>T	uc002wou.3	+	2	451	c.187C>T	c.(187-189)Cag>Tag	p.Q63*	MACROD2_uc002wot.3_Nonsense_Mutation_p.Q63*	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	63	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGAAACATCCCAGGTGAAGAA	0.303000														61			19		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73558989	73558989	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73558989C>T	uc001jrx.4	+	48	7557	c.7167C>T	c.(7165-7167)atC>atT	p.I2389I	CDH23_uc001jsg.4_Silent_p.I152I|CDH23_uc001jsh.4_Silent_p.I152I|CDH23_uc001jsi.4_Silent_p.I152I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2392	Cadherin 22.				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	p.I2397I(1)		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						ACCTGGAAATCGTGGACATCA	0.617000														49			7		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14106380	14106380	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:14106380C>T	uc001avi.3	+	7	2946	c.2090C>T	c.(2089-2091)aCc>aTc	p.T697I	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.T697I|PRDM2_uc021ogk.1_Missense_Mutation_p.T460I|PRDM2_uc001avk.3_Missense_Mutation_p.T496I|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	697						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTTCTTCAAACCCAAGATAAA	0.398000														87			32		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70964677	70964677	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:70964677G>A	uc003pfg.4	-	23	1813	c.1654C>T	c.(1654-1656)Cct>Tct	p.P552S	COL9A1_uc003pfe.4_Missense_Mutation_p.P125S|COL9A1_uc003pff.4_Missense_Mutation_p.P309S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	552	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TTTGTTCCAGGCATTCCAGGG	0.468000														27			11		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641207	57641207	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57641207G>A	uc002qny.3	+	3	1520	c.1164G>A	c.(1162-1164)atG>atA	p.M388I	USP29_uc021vci.1_Missense_Mutation_p.M388I	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	388					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			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)		AAGAAGACATGGAAAAATTAA	0.378000														75			34		0	0	1	0	0
SLC1A1	6505	broad.mit.edu	37	9	4576603	4576603	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:4576603G>A	uc003zij.2	+	9	1286	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	SPATA6L_uc003zik.3_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	345					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	CCGCTGTGCTGAAGAAAATAA	0.478000														92			10		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142574244	142574244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142574244C>T	uc003wbx.2	-	5	908	c.679G>A	c.(679-681)Gac>Aac	p.D227N	TRPV6_uc003wbw.1_Missense_Mutation_p.D13N|TRPV6_uc010lou.1_Missense_Mutation_p.D98N	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	227					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGCAGGTGGTCCCCATGTCTG	0.572000														48			25		0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153276337	153276337	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153276337C>T	uc001fbn.1	-	3	578	c.525G>A	c.(523-525)agG>agA	p.R175R		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	175					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTTACCCTTCCTGGGCATCA	0.537000														72			29		0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69344659	69344659	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69344659C>T	uc003hdz.4	+	8	1124	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	354	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CGCCATAACTCCTAGAATGTT	0.393000														185			50		0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104897581	104897581	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:104897581T>G	uc001pim.4	-	7	1104	c.1104A>C	c.(1102-1104)gaA>gaC	p.E368D	CASP1_uc001pig.3_Missense_Mutation_p.E275D|CASP1_uc021qpq.1_Missense_Mutation_p.E347D|CASP1_uc021qpr.1_Missense_Mutation_p.E227D|CASP1_uc021qps.1_Missense_Mutation_p.E52D|CASP1_uc021qpp.1_Missense_Mutation_p.E368D|CASP1_uc021qpt.1_Missense_Mutation_p.E275D|CASP1_uc010rve.2_Missense_Mutation_p.E368D|CASP1_uc010rvf.2_Missense_Mutation_p.E275D|CASP1_uc010rvg.2_Missense_Mutation_p.E347D|CASP1_uc010rvh.2_Missense_Mutation_p.E227D|CASP1_uc010rvi.2_Missense_Mutation_p.E52D|CASP1_uc009yxi.3_Missense_Mutation_p.E347D|CASP1_uc021qpu.1_Missense_Mutation_p.E275D|CASP1_uc021qpv.1_Missense_Mutation_p.E347D|CASP1_uc021qpw.1_Missense_Mutation_p.E227D|CASP1_uc021qpx.1_Missense_Mutation_p.E52D|CASP1_uc010rvj.2_Missense_Mutation_p.E368D|CASP1_uc009yxj.3_Missense_Mutation_p.E213D|CASP1_uc010rvk.2_3'UTR	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	368					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TGCGGAAAATTTCCTCCACAT	0.408000														72			26		0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435978	5435978	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:5435978G>A	uc001ihy.3	-	3	881	c.843C>T	c.(841-843)ccC>ccT	p.P281P	TUBAL3_uc001ihz.3_Silent_p.P241P	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	281					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CAGAGACGATGGGGGCGAAGG	0.517000														107			39		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023520	76023520	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:76023520G>A	uc010kbe.3	-	5	2567	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	FILIP1_uc003phy.1_Silent_p.F676F|FILIP1_uc003phz.3_Silent_p.F577F|FILIP1_uc003pia.3_Silent_p.F676F|FILIP1_uc003pib.1_Silent_p.F428F	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	676								p.S678S(1)|p.F676F(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTTGAGAGAGGAAGTTAGCCT	0.433000														202			117		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455121	84455121	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:84455121G>A	uc001vlk.3	-	0	1408	c.522C>T	c.(520-522)ttC>ttT	p.F174F		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	174						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCACATACTGGAACACGTTGG	0.527000														79			25		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111409812	111409812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:111409812G>A	uc003iab.4	+	1	1102	c.760G>A	c.(760-762)Gga>Aga	p.G254R		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	254					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CAAAGAATACGGAGCACTTTC	0.383000														70			28		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189872637	189872637	+	Silent	SNP	C	T	T	rs148918486		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189872637C>T	uc002uqj.1	+	45	3507	c.3390C>T	c.(3388-3390)atC>atT	p.I1130I		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1130	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGGTGCAATCGGCAGTCCAG	0.468000														85			32		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144995895	144995895	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144995895G>A	uc003zaf.1	-	31	8675	c.8505C>T	c.(8503-8505)atC>atT	p.I2835I	PLEC_uc003zab.1_Silent_p.I2698I|PLEC_uc003zac.1_Silent_p.I2702I|PLEC_uc003zad.2_Silent_p.I2698I|PLEC_uc003zae.1_Silent_p.I2666I|PLEC_uc003zag.1_Silent_p.I2676I|PLEC_uc003zah.2_Silent_p.I2684I|PLEC_uc003zaj.2_Silent_p.I2725I	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2835	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACAGCCCTGCGATACTGCTGC	0.672000														42			11		0	0	1	0	0
DDX55	57696	broad.mit.edu	37	12	124094582	124094582	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124094582C>T	uc001ufi.3	+	6	672	c.648C>T	c.(646-648)ggC>ggT	p.G216G	DDX55_uc001ufh.3_Silent_p.G69G|DDX55_uc001ufj.1_Silent_p.G69G|DDX55_uc001ufk.3_Silent_p.G69G	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 (DDX55), mRNA.	216	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TGAGAGCGGGCCTCCGGAACC	0.577000														52			24		0	0	1	0	0
KLRC4	8302	broad.mit.edu	37	12	10560269	10560269	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10560269G>A	uc001qye.3	-	3	642	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	KLRK1_uc001qyc.3_5'UTR|KLRK1_uc009zhk.3_5'UTR|KLRK1_uc001qyd.3_5'UTR	NM_013431	NP_038459	O43908	NKG2F_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 4 (KLRC4), mRNA.	154					cellular defense response	integral to membrane	binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						AAGCAGATCAGAGTTCTTCGA	0.348000														267			30		0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890849	23890849	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:23890849G>A	uc001ywj.4	-	0	2145	c.2041C>T	c.(2041-2043)Ccg>Tcg	p.P681S		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGCTGGAGCGGCAGTGTGGGC	0.667000														15			3		0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207505	81207505	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:81207505C>T	uc003hmd.3	+	2	723	c.486C>T	c.(484-486)ttC>ttT	p.F162F	FGF5_uc003hme.3_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	162					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						ACTGCAAGTTCAGGGAGCGTT	0.393000														183			34		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163241215	163241215	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:163241215C>T	uc002uch.2	-	12	3174	c.2945G>A	c.(2944-2946)aGa>aAa	p.R982K		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	982					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AGAGTGACTTCTTTTATCTAT	0.408000														162			13		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72993643	72993643	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:72993643G>A	uc002fck.3	-	1	1075	c.402C>T	c.(400-402)gtC>gtT	p.V134V	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	134					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCGGCTGGTAGACGATCTCCC	0.711000														50			15		0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270886	84270886	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84270886C>T	uc010voc.2	-	1	327	c.206G>A	c.(205-207)aGg>aAg	p.R69K	KCNG4_uc002fhu.1_Missense_Mutation_p.R69K	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	69						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GAGGAGATACCTCCTGCCCCC	0.622000														80			13		0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28877987	28877987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:28877987C>T	uc002dri.3	+	3	1011	c.572C>T	c.(571-573)cCc>cTc	p.P191L	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Intron|SH2B1_uc002drj.3_Missense_Mutation_p.P191L|SH2B1_uc002drk.3_Missense_Mutation_p.P191L|SH2B1_uc002drl.3_Missense_Mutation_p.P191L|SH2B1_uc010vdd.2_Intron|SH2B1_uc010vde.2_Missense_Mutation_p.P191L|SH2B1_uc002drm.3_Missense_Mutation_p.P191L	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	191	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TCGTCAGGCCCCCCAGTCTTA	0.657000														85			7		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13361447	13361447	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:13361447G>A	uc003bxv.1	-	36	5282	c.5199C>T	c.(5197-5199)ttC>ttT	p.F1733F		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1733					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCTCCTTTGCGAATGCCAGCA	0.627000														58			17		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45949718	45949718	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45949718C>T	uc002zfe.1	-	4	819	c.753G>A	c.(751-753)ggG>ggA	p.G251G	TSPEAR_uc010gpv.1_Silent_p.G183G	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	251					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CTTCTGGCTTCCCCGTGAGAG	0.642000														54			30		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890104	139890104	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:139890104C>T	uc003yvd.3	-	2	994	c.547G>A	c.(547-549)Gag>Aag	p.E183K		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	183	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCAGCTCCTCCTTGAGTGCC	0.692000										HNSCC(7;0.00092)				24			11		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96824616	96824616	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96824616G>A	uc001kkb.3	-	3	678	c.583C>T	c.(583-585)Ctc>Ttc	p.L195F	CYP2C8_uc010qoa.2_Missense_Mutation_p.L125F|CYP2C8_uc010qoc.2_Missense_Mutation_p.L93F|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.L109F|CYP2C8_uc021pwl.1_Missense_Mutation_p.L125F|CYP2C8_uc010qod.1_Missense_Mutation_p.L109F	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	195					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	p.L195V(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ATCAGGGTGAGAAAATTCTGA	0.408000														97			26		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43814059	43814059	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43814059C>T	uc001zrt.3	+	3	855	c.388C>T	c.(388-390)Cct>Tct	p.P130S		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	130						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCTTATCTCTCCTGAGCTTGG	0.552000														67			30		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33703677	33703677	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:33703677C>T	uc001uuw.3	-	4	1263	c.1137G>A	c.(1135-1137)ggG>ggA	p.G379G	STARD13_uc001uuu.3_Silent_p.G371G|STARD13_uc001uuv.3_Silent_p.G261G|STARD13_uc001uux.3_Silent_p.G344G|STARD13_uc010abh.1_Silent_p.G364G|STARD13_uc021rhz.1_Silent_p.G371G|STARD13_uc021ria.1_Silent_p.G261G	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	379					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGCTTTGGTCCCCTGCATCCG	0.547000														104			22		0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112167654	112167654	+	Nonsense_Mutation	SNP	C	T	T	rs146335507		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:112167654C>T	uc009zvx.3	+	10	1581	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	ACAD10_uc001tsp.3_Nonsense_Mutation_p.R430*|ACAD10_uc001tsq.3_Nonsense_Mutation_p.R430*|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.	430							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						TAAGCAGTATCGAGCTTCCGA	0.542000														55			16		0	0	1	0	0
PDCD7	10081	broad.mit.edu	37	15	65411101	65411101	+	Missense_Mutation	SNP	G	A	A	rs61756022	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65411101G>A	uc002aol.3	-	4	1467	c.1412C>T	c.(1411-1413)cCg>cTg	p.P471L		NM_005707	NP_005698	Q8N8D1	PDCD7_HUMAN	Homo sapiens programmed cell death 7 (PDCD7), mRNA.	471					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						GCTGGGGAGCGGGGGAAGGAC	0.498000														81			23		0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	818396	818396	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:818396G>A	uc002cjw.2	+	15	1749	c.1638G>A	c.(1636-1638)gaG>gaA	p.E546E	MSLN_uc002cju.1_Silent_p.E538E|MSLN_uc002cjt.1_Silent_p.E538E|MSLN_uc010brd.1_Silent_p.E537E|MSLN_uc002cjy.1_Silent_p.E203E|MIR662_uc021tac.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	546					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CTGTGGCTGAGGTGCAGAAAC	0.682000														25			10		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140793597	140793597	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140793597C>T	uc003lkl.2	+	0	855	c.855C>T	c.(853-855)ttC>ttT	p.F285F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Silent_p.F285F	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	281	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)			CATATTCATTCCGAAAATTAC	0.418000														13			8		0	0	1	0	0
CAPZA2	830	broad.mit.edu	37	7	116550294	116550294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:116550294C>T	uc003vil.3	+	6	617	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C	CAPZA2_uc011knk.2_Non-coding_Transcript	NM_006136	NP_006127	P47755	CAZA2_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 2 (CAPZA2), mRNA.	172					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	F-actin capping protein complex|cytosol|extracellular region	actin binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			AAGGAATGGTCGTTGGAGGTC	0.318000														45			23		0	0	1	0	0
RABL2A	11159	broad.mit.edu	37	2	114398531	114398531	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:114398531C>T	uc002tks.4	+	6	499	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	RABL2A_uc002tkn.4_Missense_Mutation_p.R120W|RABL2A_uc010flb.3_Missense_Mutation_p.R120W|RABL2A_uc002tkm.4_Intron|RABL2A_uc002tkr.3_Missense_Mutation_p.R120W|RABL2A_uc002tkp.4_Missense_Mutation_p.R120W	NM_013412	NP_038198	Q9UBK7	RBL2A_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 2A (RABL2A), transcript variant 1, mRNA.	120					small GTPase mediated signal transduction		GTP binding|GTPase activity	p.R120L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						TACAGAGCTTCGGGAGTTCAG	0.512000														55			22		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129470130	129470130	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:129470130C>T	uc021zfb.1	+	6	1021	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C	LAMA2_uc003qbn.3_Missense_Mutation_p.R306C|LAMA2_uc003qbo.3_Missense_Mutation_p.R306C	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	306	Laminin EGF-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTAGAAATCTCGCTGTGAGTG	0.418000														58			35		0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5731072	5731072	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:5731072C>T	uc003gil.1	+	2	523	c.339C>T	c.(337-339)ttC>ttT	p.F113F	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	113					muscle organ development	integral to membrane		p.A112S(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TCACAGCATTCGCCCTGAAGG	0.483000														85			7		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301398	11301398	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:11301398G>A	uc010hdr.3	+	1	1017	c.675G>A	c.(673-675)gaG>gaA	p.E225E	HRH1_uc010hds.3_Silent_p.E225E|HRH1_uc010hdt.3_Silent_p.E225E|HRH1_uc003bwb.4_Silent_p.E225E|HRH1_uc021wtb.1_Silent_p.E225E	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	225					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	AGCACCGGGAGCTCATCAATA	0.542000														71			32		0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117623	46117623	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46117623C>T	uc002zfw.1	+	0	537	c.507C>T	c.(505-507)gcC>gcT	p.A169A	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	169	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						GCTCTGGGGCCTCCTCTCTGT	0.647000														275			63		0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46615854	46615854	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:46615854C>T	uc003bhb.1	+	4	777	c.654C>T	c.(652-654)ttC>ttT	p.F218F	PPARA_uc003bgw.1_Silent_p.F218F|PPARA_uc003bgx.1_Silent_p.F218F|PPARA_uc010hab.1_Silent_p.F218F|PPARA_uc003bha.3_Silent_p.F218F|PPARA_uc010hac.1_Intron	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	218					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TGAAGAACTTCAACATGAACA	0.453000														40			4		0	0	1	0	0
ATP6V1F	9296	broad.mit.edu	37	7	128503058	128503058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128503058C>T	uc022all.1	+	0	202	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	KCP_uc003vob.1_Non-coding_Transcript|ATP6V1F_uc003voc.2_Missense_Mutation_p.P34S	NM_001198909	NP_001185838	Q16864	VATF_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F (ATP6V1F), transcript variant 2, mRNA.	34					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism			lung(1)|ovary(1)|prostate(1)	3						GAACCGCCATCCCAATTTCCT	0.582000											OREG0018299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		78			39		0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114268724	114268724	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:114268724C>T	uc003vhb.3	+	3	762	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.L155L|FOXP2_uc003vha.3_Silent_p.L38L|FOXP2_uc011kmv.2_Silent_p.L130L|FOXP2_uc011kmu.2_Silent_p.L130L|FOXP2_uc010ljz.2_Silent_p.L38L|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_Silent_p.L130L|FOXP2_uc003vgw.3_Silent_p.L155L|FOXP2_uc003vgx.2_Silent_p.L130L|FOXP2_uc003vhc.3_Silent_p.L155L|FOXP2_uc003vhd.3_Silent_p.L130L	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	130	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GGCTGTCATGCTGCAGCAGGT	0.488000														110			53		0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32891041	32891041	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:32891041C>T	uc002edh.1	-	3	189	c.13_splice	c.e3-1	p.G5_splice	SLC6A10P_uc002edi.1_Splice_Site					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		TACATCCCACCCTGGGGGACA	0.597000														70			22		0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190437675	190437675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:190437675G>A	uc002uqp.4	-	3	635	c.284C>T	c.(283-285)tCg>tTg	p.S95L	SLC40A1_uc002uqq.2_Missense_Mutation_p.S95L	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	95					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TACCACCAGCGAGGTCTGGGC	0.413000														67			15		0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126062903	126062903	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:126062903T>C	uc003yrt.3	-	17	2431	c.2102A>G	c.(2101-2103)gAt>gGt	p.D701G	KIAA0196_uc011lir.2_Missense_Mutation_p.D553G	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	701					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTGCTTTGGATCCACCTAAGT	0.448000														67			15		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17353254	17353254	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:17353254G>A	uc002dfa.3	-	2	589	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	168					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCTGGGTGCGAAGTTGCTGT	0.498000														98			28		0	0	1	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202446915	202446915	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:202446915C>T	uc002uyf.3	-	4	594	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	ALS2CR11_uc002uye.3_Missense_Mutation_p.R181Q|ALS2CR11_uc010fti.3_Missense_Mutation_p.R181Q|ALS2CR11_uc021vvc.1_Missense_Mutation_p.R181Q	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	181										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AATATTATTCCGCTTATCATC	0.303000														89			21		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413680	178413680	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178413680C>T	uc003mjr.3	-	7	1754	c.1575G>A	c.(1573-1575)ggG>ggA	p.G525G	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Silent_p.G108G|GRM6_uc003mjs.1_Silent_p.G145G	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	525					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TCTTCCGCTCCCCCGGCCCGC	0.672000														46			13		0	0	1	0	0
STL	7955	broad.mit.edu	37	6	125231419	125231419	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:125231419G>A	uc003pzq.3	-	6		c.3315C>T								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		AATTTGTTATGAAATTGGAGC	0.308000			T	ETV6	B-ALL									12			6		0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308496	248308496	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248308496G>A	uc010pze.2	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L15L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATCCTCCTGGGAATCTTCAAT	0.443000														265			111		0	0	1	0	0
KRT18	3875	broad.mit.edu	37	12	53343040	53343040	+	Missense_Mutation	SNP	C	T	T	rs74379840		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53343040C>T	uc001sbe.3	+	1	152	c.83C>T	c.(82-84)cCg>cTg	p.P28L	KRT18_uc009zmn.2_Missense_Mutation_p.P28L|KRT18_uc001sbg.3_Missense_Mutation_p.P28L|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	28	Head.				Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GGCGCCCGGCCGGTCAGCAGC	0.697000														94			46		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207640098	207640098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207640098G>A	uc001hfw.3	+	1	405	c.286G>A	c.(286-288)Gta>Ata	p.V96I	CR2_uc001hfv.3_Missense_Mutation_p.V96I|CR2_uc009xch.3_Missense_Mutation_p.V96I	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	96	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGAGCCCATAGTACCAGGAGG	0.398000														112			21		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24923706	24923706	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24923706C>T	uc001ywo.3	+	0	3166	c.2692C>T	c.(2692-2694)Cat>Tat	p.H898Y		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	898					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)		ATCCATCTCTCATTCCACACT	0.502000														149			52		0	0	1	0	0
CCDC102A	92922	broad.mit.edu	37	16	57552561	57552561	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:57552561C>T	uc002elw.3	-	4	1227	c.1014G>A	c.(1012-1014)cgG>cgA	p.R338R		NM_033212	NP_149989	Q96A19	C102A_HUMAN	Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.	338										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CGGCCATTTTCCGGTCCATGC	0.652000														27			8		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107938511	107938511	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:107938511G>A	uc022ccg.1	+	51	5038	c.4836G>A	c.(4834-4836)ggG>ggA	p.G1612G	COL4A5_uc004enz.1_Silent_p.G1606G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1606	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CAAGTGCAGGGGCAGAAGGCT	0.493000									Alport syndrome with Diffuse Leiomyomatosis					77			16		0	0	1	0	0
ENTPD8	377841	broad.mit.edu	37	9	140331432	140331432	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140331432C>T	uc004cmw.3	-	4	628	c.444G>A	c.(442-444)caG>caA	p.Q148Q	ENTPD8_uc004cmx.3_Silent_p.Q148Q|ENTPD8_uc004cmy.2_3'UTR	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8), transcript variant 1, mRNA.	148						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGCCCAGGACCTGGGTGACTG	0.662000														71			12		0	0	1	0	0
FOXI2	399823	broad.mit.edu	37	10	129536850	129536850	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:129536850G>A	uc009yas.2	+	1	578	c.578G>A	c.(577-579)aGg>aAg	p.R193K	BC132944_uc009yar.1_5'Flank	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN	Homo sapiens forkhead box I2 (FOXI2), mRNA.	193					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA 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			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				AACTTCCGAAGGAAGAGGAAG	0.622000														20			8		0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142437254	142437254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:142437254C>T	uc011dbj.2	+	16	1515	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y	ARHGAP26_uc003lmt.3_Missense_Mutation_p.H494Y|ARHGAP26_uc003lmw.3_Missense_Mutation_p.H494Y	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	494	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCCTTGTTCATCGGCTCCC	0.453000														129			41		0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44147827	44147827	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:44147827C>T	uc003owt.1	+	13	1605	c.1567C>T	c.(1567-1569)Ccc>Tcc	p.P523S	CAPN11_uc011dvn.2_Missense_Mutation_p.P177S	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	523	Domain III.				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)			TATCATTATTCCCTCCACCTT	0.552000														45			26		0	0	1	0	0
POMT2	29954	broad.mit.edu	37	14	77750178	77750178	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:77750178G>A	uc001xti.2	-	14	1816	c.1615C>T	c.(1615-1617)Cct>Tct	p.P539S	POMT2_uc001xth.1_Missense_Mutation_p.P237S	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.	539					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		AAGATCTCAGGAAAACTGGGC	0.473000														84			34		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41686444	41686444	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:41686444G>A	uc003gvz.4	+	26	4293	c.3876G>A	c.(3874-3876)ggG>ggA	p.G1292G	LIMCH1_uc003gwe.4_Silent_p.G831G|LIMCH1_uc003gvu.4_Silent_p.G908G|LIMCH1_uc003gvv.4_Silent_p.G908G|LIMCH1_uc003gvw.4_Silent_p.G907G|LIMCH1_uc003gvx.4_Silent_p.G920G|LIMCH1_uc003gvy.4_Silent_p.G736G|LIMCH1_uc003gwa.4_Silent_p.G748G|LIMCH1_uc011byu.2_Silent_p.G741G|LIMCH1_uc003gwc.4_Silent_p.G753G|LIMCH1_uc003gwd.4_Silent_p.G741G|LIMCH1_uc011byv.2_Silent_p.G658G|LIMCH1_uc011byw.2_Silent_p.G207G	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	908					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CTCATTCTGGGAACCCTGTAT	0.473000														75			20		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142612498	142612498	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142612498C>T	uc003wby.1	-	9	1529	c.1265G>A	c.(1264-1266)gGg>gAg	p.G422E		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	422					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.G422V(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GAATGGCCCCCCAAGAATCGT	0.498000														137			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082505	9082505	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9082505C>T	uc002mkp.3	-	0	9514	c.9310G>A	c.(9310-9312)Gag>Aag	p.E3104K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3105	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						GTTGTTCCCTCTTCTTCTGCA	0.488000														212			82		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91729	91729	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000211.1:91729C>T	uc003bnz.1	+	6		c.1085C>T			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		AATACCAGACCAAAGTGGATG	0.348000														13			9		0	0	1	0	0
RAF1	5894	broad.mit.edu	37	3	12660110	12660110	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:12660110G>A	uc003bxf.4	-	1	526	c.111C>T	c.(109-111)ggC>ggT	p.G37G	RAF1_uc011auu.2_5'UTR	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	37					Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	GGCGCTGATAGCCAAACTGCT	0.468000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					78			34		0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88211809	88211809	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:88211809G>A	uc001kdn.3	-	15	3149	c.3140C>T	c.(3139-3141)tCt>tTt	p.S1047F	WAPAL_uc009xsv.3_Intron|WAPAL_uc001kdo.3_Missense_Mutation_p.S1010F|WAPAL_uc009xsw.3_Missense_Mutation_p.S1004F	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	1010	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						AGAATCAAAAGAGCACGATGT	0.428000														133			14		0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36954816	36954816	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36954816C>T	uc002xib.2	+	9	1217	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	385					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCCTGGCTTCCCTCTTCCTGA	0.597000														29			11		0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216202	111216202	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111216202G>A	uc001dzv.1	-	0	1454	c.1230C>T	c.(1228-1230)atC>atT	p.I410I		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	410						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGAGAAAAGGATGACCCCAA	0.577000														59			18		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44053363	44053363	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:44053363G>A	uc001jaw.4	-	1	818	c.165C>T	c.(163-165)ttC>ttT	p.F55F	ZNF239_uc001jax.4_Silent_p.F55F|ZNF239_uc009xmj.3_Silent_p.F55F|ZNF239_uc009xmk.3_Silent_p.F55F|ZNF239_uc021pph.1_Silent_p.F55F	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	p.F55F(2)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CAATGTTTTCGAAACAACCAC	0.413000														106			46		0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43268903	43268903	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43268903G>A	uc021yzt.1	+	5	957	c.858G>A	c.(856-858)ctG>ctA	p.L286L	SLC22A7_uc010jyl.1_Silent_p.L287L|SLC22A7_uc003ous.3_Silent_p.L284L|SLC22A7_uc003out.3_Silent_p.L284L	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	286						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GCTGGCTTCTGACCCAAGGCC	0.572000														69			35		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167802338	167802338	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167802338G>A	uc001ger.3	-	24	3778	c.3480C>T	c.(3478-3480)ctC>ctT	p.L1160L	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Silent_p.L1007L|ADCY10_uc009wvk.3_Silent_p.L1068L	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1160					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTCGGTTGAGGAGCTTCAGTG	0.453000														246			101		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135693067	135693067	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:135693067C>T	uc003lbn.2	-	1	231	c.9G>A	c.(7-9)agG>agA	p.R3R	TRPC7_uc010jef.2_5'UTR|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.R3R|TRPC7_uc010jei.2_Silent_p.R3R	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	3					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGTGCTGTTCCTCAACCTAT	0.527000														29			11		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123456259	123456259	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:123456259C>T	uc003ego.3	-	7	1002	c.720G>A	c.(718-720)ggG>ggA	p.G240G	MYLK_uc011bjw.2_Silent_p.G240G|MYLK_uc003egp.3_Silent_p.G240G|MYLK_uc003egq.3_Silent_p.G240G|MYLK_uc003egr.3_Silent_p.G240G|MYLK_uc003egs.3_Silent_p.G64G|MYLK_uc010hrs.1_Silent_p.G240G	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	240	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCGAGGCCTTCCCCGACCCGT	0.567000														106			55		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73678100	73678100	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:73678100C>T	uc002sje.1	+	7	4554	c.4443C>T	c.(4441-4443)ccC>ccT	p.P1481P	ALMS1_uc002sjf.1_Silent_p.P1439P|ALMS1_uc002sjg.3_Silent_p.P869P|ALMS1_uc002sjh.1_Silent_p.P869P	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1481	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGAGAAGCCCATTGTTATCT	0.507000														131			65		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485093	97485093	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:97485093C>T	uc001vmw.3	+	1	1081	c.1057C>T	c.(1057-1059)Ctc>Ttc	p.L353F		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	353						integral to membrane	sulfotransferase activity	p.L353L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CTTCTTTGGGCTCACTGAGTT	0.463000														79			31		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169825875	169825875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169825875C>T	uc002ueo.1	-	15	2122	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	ABCB11_uc010zda.1_Missense_Mutation_p.E108K|ABCB11_uc010zdb.1_Missense_Mutation_p.E142K	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	666	Interaction with HAX1 (By similarity).				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ATGTCCTCTTCATTAAGAGCT	0.368000														26			11		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11607595	11607595	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11607595G>A	uc002gne.3	+	24	5295	c.5227G>A	c.(5227-5229)Gag>Aag	p.E1743K	DNAH9_uc010coo.3_Missense_Mutation_p.E1037K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1743	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGAAGGCTATGAGAGTGCCAT	0.527000														43			27		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404233	20404233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20404233G>A	uc001vwj.2	+	0	467	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GTACAATTATGAACCGGAGGC	0.443000														82			33		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21425035	21425035	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:21425035G>A	uc002kuq.3	+	29	3752	c.3666G>A	c.(3664-3666)atG>atA	p.M1222I	LAMA3_uc002kur.3_Missense_Mutation_p.M1222I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1222	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAAATCCATGGACAAGTCAC	0.423000														38			15		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6501056	6501056	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6501056G>A	uc001amy.3	+	4	1089	c.921G>A	c.(919-921)acG>acA	p.T307T		NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	307					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		ACGGGTACACGGCCGCCGACC	0.697000														19			4		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509747	106509747	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:106509747G>A	uc003vdv.4	+	1	1826	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	PIK3CG_uc003vdu.3_Missense_Mutation_p.E581K|PIK3CG_uc003vdw.3_Missense_Mutation_p.E581K	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	581					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TTTTAGATACGAAAGCCTTAA	0.453000														71			39		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179497405	179497405	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179497405C>T	uc021vsy.1	-	183	35849	c.35624G>A	c.(35623-35625)gGa>gAa	p.G11875E	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G5570E|TTN_uc021vta.1_Missense_Mutation_p.G5503E|TTN_uc021vtb.1_Missense_Mutation_p.G5378E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12802	Glu-rich.|Pro-rich.						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)			TTCCTGGGTTCCTTTTAGCCA	0.418000														144			55		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593736	179593736	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179593736C>T	uc021vsy.1	-	61	15522	c.15297G>A	c.(15295-15297)gtG>gtA	p.V5099V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V1760V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6026	Ig-like 31.						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)			CCACACTGTCCACAAATGAAA	0.423000														25			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140216077	140216077	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140216077C>T	uc003lhq.2	+	0	2109	c.2109C>T	c.(2107-2109)gcC>gcT	p.A703A	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_uc011dac.2_Silent_p.A703A	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	711					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)			TGATCATCGCCATCTGCGCGG	0.612000														135			13		0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	751015	751015	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:751015G>A	uc003siu.2	-	1	261	c.128C>T	c.(127-129)cCc>cTc	p.P43L	PRKAR1B_uc021zyi.1_Missense_Mutation_p.P43L|PRKAR1B_uc003siv.3_Missense_Mutation_p.P43L|PRKAR1B_uc021zyj.1_Missense_Mutation_p.P43L|PRKAR1B_uc021zyk.1_Missense_Mutation_p.P43L|PRKAR1B_uc003siw.2_Missense_Mutation_p.P43L	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	43	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|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GGGGCGTTCGGGCTTGGAGAT	0.632000														61			20		0	0	1	0	0
G6PC2	57818	broad.mit.edu	37	2	169759040	169759040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169759040C>T	uc002uem.3	+	1	396	c.304C>T	c.(304-306)Cct>Tct	p.P102S	G6PC2_uc002uen.3_Missense_Mutation_p.P102S|G6PC2_uc010fpv.3_Intron	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic, 2 (G6PC2), transcript variant 1, mRNA.	102					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TGAACAGTTCCCTACTACATG	0.403000														74			40		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166172174	166172174	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166172174C>T	uc002udc.3	+	10	1867	c.1577C>T	c.(1576-1578)tCg>tTg	p.S526L	SCN2A_uc002udd.3_Missense_Mutation_p.S526L|SCN2A_uc002ude.3_Missense_Mutation_p.S526L	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	526					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTCCGAAAATCGGAATCTGAA	0.373000														89			32		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389397	4389397	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4389397C>T	uc010qye.2	-	0	220	c.129G>A	c.(127-129)ggG>ggA	p.G43G		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G43W(2)|p.L42F(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGGCTGTTCCCAAGAAGGG	0.527000														29			11		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16701712	16701712	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:16701712G>A	uc010cpj.1	+	17		c.4243G>A			USP32P1_uc010cpk.1_Non-coding_Transcript|USP32P1_uc010vwq.1_Non-coding_Transcript|USP32P1_uc002gqm.2_Non-coding_Transcript			A2RUR9	C144A_HUMAN	Homo sapiens ubiquitin specific peptidase 32 pseudogene 1 (USP32P1), non-coding RNA.																		CCAGGGGGATGAGCTCTCCAA	0.522000														45			22		0	0	1	0	0
NAT16	375607	broad.mit.edu	37	7	100817986	100817986	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100817986C>T	uc003uxy.2	-	1	342	c.103G>A	c.(103-105)Gag>Aag	p.E35K	NAT16_uc003uxz.2_Missense_Mutation_p.E35K|NAT16_uc003uya.1_Missense_Mutation_p.E35K|NAT16_uc003uyb.1_Missense_Mutation_p.E35K	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	Homo sapiens N-acetyltransferase 16 (GCN5-related, putative) (NAT16), mRNA.	35							N-acetyltransferase activity	p.E35K(1)									GCCTCCACCTCCTGTGGCCGG	0.637000														90			32		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278088	152278088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152278088C>T	uc001ezu.1	-	2	9310	c.9274G>A	c.(9274-9276)Gag>Aag	p.E3092K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3092	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGCCTGCTCATGGCGGGAT	0.577000									Ichthyosis					263			97		0	0	1	0	0
C20orf151	140893	broad.mit.edu	37	20	60991260	60991260	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:60991260C>T	uc002ycw.2	-	5	543	c.346G>A	c.(346-348)Gag>Aag	p.E116K		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	116										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)			TTCAAGGTCTCGTTCTCTTCC	0.637000														34			7		0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365806	13365806	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:13365806G>A	uc003nat.2	-	1	1089	c.342C>T	c.(340-342)ctC>ctT	p.L114L	GFOD1_uc021ylt.1_Silent_p.L11L|GFOD1_uc003nas.2_Silent_p.L11L	NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.	114						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TGATGCTCATGAGCTTGGGGT	0.652000														114			49		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189855065	189855065	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189855065C>T	uc002uqj.1	+	9	894	c.777C>T	c.(775-777)ttC>ttT	p.F259F	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	259	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TACCTGGATTCCCTGGTATGA	0.348000														30			15		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84473122	84473122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84473122C>T	uc010chj.3	+	12	1290	c.1201C>T	c.(1201-1203)Cgt>Tgt	p.R401C	ATP2C2_uc002fhx.3_Missense_Mutation_p.R401C|ATP2C2_uc002fhy.3_Missense_Mutation_p.R418C|ATP2C2_uc002fhz.3_Missense_Mutation_p.R250C	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	401					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGATGGGCTTCGTGCCGAGGT	0.493000														108			49		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131412	72131412	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:72131412C>T	uc004ahh.2	-	1	991	c.715G>A	c.(715-717)Gac>Aac	p.D239N		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	239	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GAGCGCTCGTCGTAATGGTGC	0.716000														17			11		0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117885049	117885050	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:117885049_117885050CC>TT	uc001lcj.3	-	5	1150_1151	c.452_453GG>AA	c.(451-453)ggg>gAA	p.G151E	GFRA1_uc001lci.3_Missense_Mutation_p.G146E|GFRA1_uc009xyr.3_Missense_Mutation_p.G146E	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	151					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GGCAGTTGTTCCCTTTGGGAAT	0.540000														14			6		0	0	1	0	0
NOL9	79707	broad.mit.edu	37	1	6610651	6610651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6610651G>A	uc001ans.3	-	1	517	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	NOL9_uc010nzs.2_Non-coding_Transcript	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	Homo sapiens nucleolar protein 9 (NOL9), mRNA.	141					maturation of 5.8S rRNA	nucleolus	ATP binding|RNA binding|polynucleotide 5'-hydroxyl-kinase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGTCACACGACAGATCCCA	0.413000														58			21		0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23250889	23250889	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:23250889C>T	uc001irm.4	+	6	697	c.614C>T	c.(613-615)cCa>cTa	p.P205L	ARMC3_uc010qcv.2_Missense_Mutation_p.P205L|ARMC3_uc010qcw.2_Intron	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	205							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCAGAATATCCAGTGATTCAG	0.373000														38			15		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370122	240370122	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240370122G>A	uc010pye.2	+	5	2247	c.2022G>A	c.(2020-2022)gaG>gaA	p.E674E	FMN2_uc010pyd.2_Silent_p.E670E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	670					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGAAGTCTGAGGGACAGGCCA	0.423000														51			15		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181620505	181620505	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181620505G>A	uc009wxt.3	+	6	1178	c.983G>A	c.(982-984)tGg>tAg	p.W328*	CACNA1E_uc001gow.3_Nonsense_Mutation_p.W328*|CACNA1E_uc009wxs.3_Nonsense_Mutation_p.W328*|CACNA1E_uc009wxr.3_Nonsense_Mutation_p.W235*	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	328					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.W328L(2)		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						ACCTGGAATTGGCTGTACTTC	0.428000														84			28		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104031898	104031898	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:104031898G>A	uc001tjw.3	+	7	1000	c.814G>A	c.(814-816)Ggc>Agc	p.G272S		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	272	EGF-like 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCGTGGGGATGGCCAAGTGTG	0.498000														67			39		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19765374	19765374	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19765374G>A	uc002nnh.4	-	12	1819	c.1791C>T	c.(1789-1791)gcC>gcT	p.A597A	ATP13A1_uc002nne.3_5'Flank|ATP13A1_uc002nnf.4_5'UTR|ATP13A1_uc002nng.3_Silent_p.A479A	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	597					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.T596A(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TCCAGTCCACGGCCGTCAGCA	0.672000														32			14		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121016411	121016411	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121016411C>T	uc010rzo.2	+	10	3691	c.3691C>T	c.(3691-3693)Cgg>Tgg	p.R1231W		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1231	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CACAGTCCCTCGGAGCATGCA	0.507000														52			30		0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74883533	74883533	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:74883533C>T	uc001owb.3	+	6	1286	c.891C>T	c.(889-891)ttC>ttT	p.F297F	SLCO2B1_uc010rrq.2_Silent_p.F42F|SLCO2B1_uc010rrr.2_Silent_p.F153F|SLCO2B1_uc010rrs.2_Silent_p.F181F|SLCO2B1_uc001owc.3_Silent_p.F70F|SLCO2B1_uc001owd.3_Silent_p.F275F	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	297					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	ACTTCTTCTTCCCCAAGGAAA	0.577000														78			39		0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120530855	120530855	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:120530855G>A	uc001txl.1	+	8	1637	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	CCDC64_uc009zwv.1_Non-coding_Transcript|CCDC64_uc010sze.1_Missense_Mutation_p.E209K|CCDC64_uc010szf.1_Missense_Mutation_p.E235K	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA.	538					Golgi to secretory granule transport|neuron projection development	centrosome	Rab GTPase binding|dynactin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACCTGAAAGAACGGAGCCA	0.622000														66			18		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719696	140719696	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140719696C>T	uc003ljk.2	+	0	1343	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.L386L	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	389	Cadherin 4.				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)			CCTGTTCACTCCCCGAGGATC	0.433000														92			40		0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735935	41735935	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:41735935C>T	uc003azw.3	+	9	1148	c.932C>T	c.(931-933)cCt>cTt	p.P311L		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	327					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GGCTCCATCCCTGTCTCCAGC	0.692000														57			37		0	0	1	0	0
PRKAB2	5565	broad.mit.edu	37	1	146634146	146634146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:146634146G>A	uc001epe.3	-	5	690	c.545C>T	c.(544-546)tCc>tTc	p.S182F	PRKAB2_uc010ozm.2_Missense_Mutation_p.S100F|PRKAB2_uc010ozn.2_Missense_Mutation_p.P60S|PRKAB2_uc009wjf.1_Missense_Mutation_p.S182F	NM_005399	NP_005390	O43741	AAKB2_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 2 non-catalytic subunit (PRKAB2), mRNA.	182					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	GGGTGAGCTGGAAAGGTCTGA	0.393000														37			7		0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169863233	169863233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:169863233G>A	uc003fgl.2	-	5	684	c.650C>T	c.(649-651)tCc>tTc	p.S217F	PHC3_uc010hws.1_Missense_Mutation_p.S205F|PHC3_uc011bpq.1_Missense_Mutation_p.S164F|PHC3_uc011bpr.1_Intron|PHC3_uc003fgm.2_Missense_Mutation_p.S217F	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	205	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AGACTGACAGGAAGATGACGA	0.433000														50			13		0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36253876	36253876	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:36253876C>T	uc011cow.2	-	12	1608	c.1115G>A	c.(1114-1116)gGc>gAc	p.G372D	RANBP3L_uc003jkh.3_Missense_Mutation_p.G347D	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	347	RanBD1.				intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CCTTAGACTGCCTTGATTGCG	0.393000														76			29		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100334587	100334587	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100334587C>T	uc003uwj.3	+	4	574	c.409C>T	c.(409-411)Ctc>Ttc	p.L137F	ZAN_uc003uwk.3_Missense_Mutation_p.L137F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	137	MAM 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGCTGCTGCTCTCGGGTGA	0.652000														10			4		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76739023	76739023	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:76739023C>T	uc001jwn.1	+	9	2650	c.2157C>T	c.(2155-2157)taC>taT	p.Y719Y	KAT6B_uc001jwm.1_Silent_p.Y427Y|KAT6B_uc001jwo.1_Silent_p.Y427Y|KAT6B_uc001jwp.1_Silent_p.Y536Y	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	719	Catalytic.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GTGGCCGGTACCCTTCTGTGA	0.388000														56			20		0	0	1	0	0
UBXN10	127733	broad.mit.edu	37	1	20517739	20517739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:20517739G>A	uc001bdb.3	+	1	769	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	UBXN10_uc021oia.1_Missense_Mutation_p.E229K	NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	Homo sapiens UBX domain protein 10 (UBXN10), mRNA.	229	UBX.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						TGCTGTGGCCGAACAGAAAAA	0.488000														76			38		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43505518	43505518	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43505518C>T	uc002zag.1	+	3	599	c.599C>T	c.(598-600)tCc>tTc	p.S200F	UMODL1_uc002zad.1_Missense_Mutation_p.S128F|UMODL1_uc002zae.1_Missense_Mutation_p.S128F|UMODL1_uc002zaf.1_Missense_Mutation_p.S200F|UMODL1_uc010gow.1_5'UTR|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_5'UTR	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	200						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTTCTGCATTCCTTGGTAGGT	0.607000														177			33		0	0	1	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34043182	34043182	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:34043182G>A	uc003jio.3	-	0	190	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	C1QTNF3_uc003jin.3_Missense_Mutation_p.L17F	NM_181435	NP_852100	Q9BXJ4	C1QT3_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 3 (C1QTNF3), transcript variant 2, mRNA.	0						collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CAAAAAGGGAGGAAAAACAAA	0.493000														160			54		0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32232418	32232418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:32232418C>T	uc002wzg.1	+	11	2318	c.1781C>T	c.(1780-1782)gCt>gTt	p.A594V	CBFA2T2_uc010zug.1_Missense_Mutation_p.A368V|CBFA2T2_uc002wze.1_Missense_Mutation_p.A585V|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.A565V|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript|CBFA2T2_uc002wzk.1_Missense_Mutation_p.A142V	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	594						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TCAACACCTGCTTCTGTGACA	0.627000														139			28		0	0	1	0	0
SLC2A11	66035	broad.mit.edu	37	22	24226910	24226910	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:24226910C>T	uc011ajc.1	+	10	1875	c.1385C>T	c.(1384-1386)tCc>tTc	p.S462F	SLC2A11_uc002zym.4_Silent_p.F462F|SLC2A11_uc002zyn.4_Silent_p.F455F|SLC2A11_uc002zyo.4_Non-coding_Transcript|SLC2A11_uc002zyp.4_Silent_p.F458F			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	0						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CTGGCCTGTTCCTTCCTGAGA	0.562000														144			51		0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104508525	104508525	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:104508525G>A	uc001yom.4	+	34	4004	c.3974_splice	c.e34+1	p.G1325_splice	TDRD9_uc001yon.4_Splice_Site_p.G872_splice	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	1325					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AGCTTTTAGGGTAAGCTGTGT	0.463000														34			20		0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155643132	155643132	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:155643132C>T	uc003faq.3	+	11	1872	c.1537C>T	c.(1537-1539)Cca>Tca	p.P513S	GMPS_uc011bom.2_Missense_Mutation_p.P414S	NM_003875	NP_003866	P49915	GUAA_HUMAN	Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.	513					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTCTTGCTGCCAATTAAAAC	0.403000			T	MLL	AML									21			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179575645	179575645	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179575645C>T	uc021vsy.1	-	94	24672	c.24447G>A	c.(24445-24447)ggG>ggA	p.G8149G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G4810G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9076	Ig-like 64.						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)			GTGGGTTCTTCCCCTCTAATA	0.453000														58			24		0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22790820	22790820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:22790820G>A	uc002yld.2	+	10	1660	c.1411G>A	c.(1411-1413)Gga>Aga	p.G471R	NCAM2_uc011acb.2_Missense_Mutation_p.G329R	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	471	Ig-like C2-type 5.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CAATGACTTTGGACGCTATAA	0.318000														162			19		0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31013635	31013635	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:31013635C>T	uc003tbx.3	+	6	681	c.633C>T	c.(631-633)ttC>ttT	p.F211F	GHRHR_uc003tby.3_Silent_p.F147F|GHRHR_uc003tbz.3_Intron	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	211					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	p.H210N(1)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CCTCCCATTTCGCCACCATGA	0.627000														78			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086464	9086464	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9086464G>A	uc002mkp.3	-	0	5555	c.5351C>T	c.(5350-5352)tCt>tTt	p.S1784F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1784	Ser-rich.|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						CCTTGCTGAAGACTTGGAGAT	0.468000														47			25		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35793034	35793034	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35793034C>T	uc003zyd.3	+	0	629	c.629C>T	c.(628-630)cCc>cTc	p.P210L	NPR2_uc010mlb.3_Missense_Mutation_p.P210L	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	210					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CCAGGGGGCCCCGAGCAGGCC	0.637000														35			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179457165	179457165	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179457165G>A	uc021vsy.1	-	249	52088	c.51863C>T	c.(51862-51864)tCt>tTt	p.S17288F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S10983F|TTN_uc021vta.1_Missense_Mutation_p.S10916F|TTN_uc021vtb.1_Missense_Mutation_p.S10791F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18215	Fibronectin type-III 25.						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)			CACTGTTAAAGAATAAATTCC	0.358000														207			47		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57069596	57069596	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57069596G>A	uc001njr.3	-	6	5098	c.4786C>T	c.(4786-4788)Ctg>Ttg	p.L1596L	TNKS1BP1_uc001njq.3_Silent_p.L169L|TNKS1BP1_uc001njs.3_Silent_p.L1596L	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1596	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCCTCCGACAGGCCCAAGGTA	0.597000														86			35		0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15843396	15843396	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:15843396C>T	uc002wou.3	+	8	916	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	MACROD2_uc002wot.3_Missense_Mutation_p.R218W|MACROD2_uc002woz.3_5'UTR|MACROD2_uc002wpb.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	218	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTAGGTGGATCGGATCATTTT	0.368000														43			11		0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97920070	97920070	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:97920070C>T	uc001klp.3	+	5	4848	c.3991C>T	c.(3991-3993)Cct>Tct	p.P1331S	ZNF518A_uc001klo.1_Missense_Mutation_p.P801S|ZNF518A_uc001klq.3_Missense_Mutation_p.P1331S|ZNF518A_uc001klr.3_Missense_Mutation_p.P1331S	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	1331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GCGGCTTTTCCCTTTTAGTTC	0.393000														54			27		0	0	1	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066852	46066852	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46066852C>T	uc002zfr.4	+	0	522	c.477C>T	c.(475-477)tcC>tcT	p.S159S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	153	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						GCTGTGTGTCCACCTGCTCTG	0.637000														225			57		0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69387775	69387775	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:69387775G>A	uc001xkl.3	-	2	598	c.288C>T	c.(286-288)gcC>gcT	p.A96A	ACTN1_uc010ttb.2_Silent_p.A31A|ACTN1_uc001xkm.3_Silent_p.A96A|ACTN1_uc001xkn.3_Silent_p.A96A|ACTN1_uc001xko.1_Silent_p.A31A|ACTN1_uc010ttd.1_Silent_p.A75A	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	96	Actin-binding.|CH 1.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGAAATCCAGGGCCTTGTTGA	0.547000														100			30		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189706735	189706735	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:189706735G>A	uc011bsk.2	-	3	1304	c.916C>T	c.(916-918)Cct>Tct	p.P306S	LEPREL1_uc003fsg.3_Missense_Mutation_p.P125S	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	306					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TAGTGCAGAGGAAGAAAATTC	0.493000														92			44		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7673059	7673059	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7673059C>T	uc002mgu.4	+	6	851	c.750C>T	c.(748-750)ttC>ttT	p.F250F	CAMSAP3_uc002mgv.4_Silent_p.F223F	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	223	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCCCCTGCTTCCCGACGGTGA	0.667000														66			23		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61848064	61848064	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61848064C>T	uc001jky.3	-	28	3719	c.3381G>A	c.(3379-3381)acG>acA	p.T1127T	ANK3_uc001jkw.3_Silent_p.T261T|ANK3_uc009xpa.3_Silent_p.T261T|ANK3_uc001jkx.3_Silent_p.T305T|ANK3_uc010qih.2_Silent_p.T1128T|ANK3_uc001jkz.4_Silent_p.T1121T|ANK3_uc001jla.1_Silent_p.T193T|ANK3_uc001jlb.1_Silent_p.T645T	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1127					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						GGAAATCTTTCGTGATAATCC	0.438000														98			29		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201507489	201507489	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:201507489G>A	uc002uvx.3	+	24	2913	c.2812G>A	c.(2812-2814)Gaa>Aaa	p.E938K	AOX1_uc010zhf.2_Missense_Mutation_p.E494K|AOX1_uc010fsu.3_Missense_Mutation_p.E304K	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	938					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity	p.T937M(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTGTATCACGGAAGTTGCAGC	0.512000														98			7		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28736065	28736065	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28736065G>A	uc002kwn.3	-	3	674	c.412C>T	c.(412-414)Cct>Tct	p.P138S	DSC1_uc002kwm.3_Missense_Mutation_p.P138S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	138	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCTGGAATAGGAGCCCATCGT	0.408000														75			43		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145110780	145110780	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145110780G>A	uc003zar.3	-	15	2241	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	720							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GGCCCCCACGGAGATGCAGAT	0.647000														12			3		0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37363342	37363342	+	Missense_Mutation	SNP	C	T	T	rs113898889		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:37363342C>T	uc003cgv.3	+	12	2026	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	GOLGA4_uc010hgr.2_Missense_Mutation_p.R117W|GOLGA4_uc003cgw.3_Missense_Mutation_p.R578W|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.R437W	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	556	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.R556W(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAATAAACTTCGGGACCTTCA	0.348000														60			33		0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206320265	206320265	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:206320265C>T	uc001hdu.3	+	3	526	c.408C>T	c.(406-408)tcC>tcT	p.S136S	CTSE_uc001hdv.3_Silent_p.S136S|CTSE_uc010prs.2_Silent_p.S61S	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	136					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			AATCTTTCTCCATTCAGTATG	0.517000														65			26		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327956	57327956	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57327956C>T	uc002qnu.2	-	6	2205	c.1854G>A	c.(1852-1854)caG>caA	p.Q618Q	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.Q589Q|PEG3_uc002qnv.2_Silent_p.Q618Q|PEG3_uc002qnw.2_Silent_p.Q494Q|PEG3_uc002qnx.2_Silent_p.Q492Q|PEG3_uc010etr.2_Silent_p.Q618Q	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	618					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CATACATTTTCTGAAACTCAT	0.443000														38			15		0	0	1	0	0
PSME2	5721	broad.mit.edu	37	14	24613611	24613611	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24613611G>A	uc001wmj.3	-	6	492	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	FAM158A_uc001wmi.3_5'Flank|RNF31_uc001wml.1_5'Flank	NM_002818	NP_002809	Q9UL46	PSME2_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 2 (PA28 beta) (PSME2), mRNA.	143					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		TTTCTTACCTGGATTGCTACC	0.438000														108			10		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83933329	83933329	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83933329C>T	uc002bjt.1	-	3	762	c.674G>A	c.(673-675)gGa>gAa	p.G225E	BNC1_uc010uos.1_Missense_Mutation_p.G213E	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	225					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GCTGGGGTTTCCTTTGTCCAC	0.498000														153			51		0	0	1	0	0
ANKRD7	56311	broad.mit.edu	37	7	117876926	117876926	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:117876926G>A	uc003vji.3	+	4	831	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.	220					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						ATTATGTTACGAAGGTATTGT	0.393000														210			73		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127638767	127638767	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:127638767C>T	uc003kuu.3	-	45	6254	c.5815G>A	c.(5815-5817)Gag>Aag	p.E1939K		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1939	EGF-like 32; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGATGCCGCTCGCACTCATCA	0.348000														96			27		0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7100082	7100082	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7100082G>A	uc010vtn.2	-	7	1157	c.897C>T	c.(895-897)atC>atT	p.I299I	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Silent_p.I356I|DLG4_uc002get.4_Silent_p.I402I|DLG4_uc010vto.2_Silent_p.I399I	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	359					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TCACCGACAGGATCTGGTCCC	0.667000														4			5		0	0	1	0	0
CHAD	1101	broad.mit.edu	37	17	48545818	48545818	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48545818G>A	uc010dbr.3	-	0	410	c.357C>T	c.(355-357)ttC>ttT	p.F119F	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.3_Silent_p.F119F|ACSF2_uc010dbt.1_Intron	NM_001267	NP_001258	O15335	CHAD_HUMAN	Homo sapiens chondroadherin (CHAD), mRNA.	119					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCAGGTCGTCGAAGGCACCTG	0.617000														83			8		0	0	1	0	0
SNX8	29886	broad.mit.edu	37	7	2297430	2297430	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:2297430C>T	uc003slw.3	-	7	967	c.924G>A	c.(922-924)caG>caA	p.Q308Q		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	Homo sapiens sorting nexin 8 (SNX8), mRNA.	308					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	p.Q308H(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CGTTCTCTTCCTGCTTACCCT	0.612000														171			67		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140764587	140764587	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140764587C>T	uc003lka.2	+	0	2121	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lkb.4_5'Flank|PCDHGC5_uc003lkc.2_5'Flank|PCDHGC5_uc003ljz.1_Silent_p.F707F	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	702					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)			TCCTAGCCTTCGTCCTCGTAC	0.627000														69			28		0	0	1	0	0
C3orf67	200844	broad.mit.edu	37	3	58855057	58855057	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58855057G>A	uc003dkt.1	-	8	1046	c.637C>T	c.(637-639)Cat>Tat	p.H213Y	C3orf67_uc003dks.1_Missense_Mutation_p.H28Y|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.H28Y|C3orf67_uc003dkw.3_Missense_Mutation_p.H121Y	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	213										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTCTTACCATGAATAGGTACA	0.328000														70			17		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540813	28540813	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28540813C>T	uc003nlo.3	-	3	3471	c.2853G>A	c.(2851-2853)aaG>aaA	p.K951K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	951					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						caatataattctttacagctt	0.343000														34			13		0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66641931	66641931	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:66641931G>A	uc001sth.3	+	11	1873	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	IRAK3_uc010ssy.2_Missense_Mutation_p.E530K	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	591					MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GGATGAATATGAACAGTACAA	0.418000														54			26		0	0	1	0	0
DHDH	27294	broad.mit.edu	37	19	49438278	49438278	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49438278G>A	uc002ple.1	+	1	152	c.112G>A	c.(112-114)Gat>Aat	p.D38N		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	Homo sapiens dihydrodiol dehydrogenase (dimeric) (DHDH), mRNA.	38					carbohydrate metabolic process		D-xylose 1-dehydrogenase (NADP+) activity|NAD(P)+ transhydrogenase activity|binding|electron carrier activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GGCGGCCCGCGATCTGAGCCG	0.637000														10			4		0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69419661	69419661	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:69419661G>A	uc004dxx.1	+	3	294	c.197_splice	c.e3-1	p.G66_splice		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	66					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TGTACCCACAGGTGGCAGGCG	0.552000														15			13		0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69264178	69264178	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:69264178C>T	uc001sup.3	-	5	493	c.432_splice	c.e5-1	p.R144_splice	CPM_uc001sur.3_Splice_Site_p.R144_splice|CPM_uc001suq.3_Splice_Site_p.R144_splice	NM_198320	NP_938079	P14384	CBPM_HUMAN	Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA.	144					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTATAATTTTCCCTTTAAAAG	0.403000														46			13		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202291	56202291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:56202291C>T	uc002lhj.4	-	4	5342	c.5128G>A	c.(5128-5130)Gag>Aag	p.E1710K	ALPK2_uc002lhk.1_Missense_Mutation_p.E1041K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1710							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTCTTGACCTCCTCTGACCCC	0.567000														117			38		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566226	5566226	+	Silent	SNP	G	A	A	rs35658346		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5566226G>A	uc010qzh.2	-	0	528	c.528C>T	c.(526-528)ttC>ttT	p.F176F	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGTCCTGCAGAAAGGCAGGC	0.493000														42			20		0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56737280	56737280	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56737280G>A	uc001slc.3	-	23	2652	c.2449C>T	c.(2449-2451)Ccg>Tcg	p.P817S	STAT2_uc001slb.3_Missense_Mutation_p.P359S|STAT2_uc001sld.3_Missense_Mutation_p.P813S	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	817					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.P817P(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TCACCATTCGGCATGATTTCT	0.507000														42			26		0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49656793	49656793	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49656793C>T	uc002pmv.3	-	0	1889	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	568					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		tcttcctcctcGCTGTGGTCT	0.622000														12			10		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103294550	103294550	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:103294550G>A	uc022ajr.1	-	12	1704	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	RELN_uc022ajq.1_Missense_Mutation_p.S515F|RELN_uc010liz.3_Missense_Mutation_p.S515F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	515					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)		CTTATATGAGGAATAGGAAAG	0.428000														64			23		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495547	71495547	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:71495547C>T	uc003kbw.4	+	4	6606	c.6365C>T	c.(6364-6366)cCc>cTc	p.P2122L	MAP1B_uc010iyw.1_Missense_Mutation_p.P2139L|MAP1B_uc010iyx.1_Missense_Mutation_p.P1996L|MAP1B_uc010iyy.1_Missense_Mutation_p.P1996L	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	2122						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCTGAAAAGCCCCTCACTCAA	0.542000														129			58		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9028347	9028347	+	Missense_Mutation	SNP	G	A	A	rs150243586	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9028347G>A	uc002mkp.3	-	10	36649	c.36445C>T	c.(36445-36447)Cgc>Tgc	p.R12149C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12151	SEA 1.				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						GGGTCAGGGCGATGTGTGCAG	0.557000														120			48		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50962182	50962182	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50962182C>T	uc002psf.2	+	21	2565	c.2514C>T	c.(2512-2514)ccC>ccT	p.P838P		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	838	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CAGAGCCACCCAAGATCCGGC	0.667000														17			3		0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44418361	44418361	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44418361G>A	uc002oxu.2	-	3	1326	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G	ZNF45_uc002oxw.2_Silent_p.G409G	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	Homo sapiens zinc finger protein 45 (ZNF45), mRNA.	409					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G409G(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CTCCAGTATGGCCTCTTTGAT	0.478000														101			33		0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71068536	71068536	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71068536G>A	uc003hfc.3	+	8	729	c.712G>A	c.(712-714)Gga>Aga	p.G238R		NM_017855	NP_060325	A1E959	ODAM_HUMAN	Homo sapiens odontogenic, ameloblast asssociated (ODAM), mRNA.	238					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TGACAGTGCAGGAGTTTTCAT	0.413000														78			24		0	0	1	0	0
IPW	3653	broad.mit.edu	37	15	25419959	25419959	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:25419959G>A	uc001yyp.1	+	7		c.574_splice	c.e7-1		IPW_uc001yys.1_Splice_Site|SNORD115-3_uc001yyt.1_5'Flank|SNORD115-4_uc001yyu.1_5'Flank					Homo sapiens imprinted in Prader-Willi syndrome (non-protein coding) (IPW), non-coding RNA.																		ggcttcagcaggtccctccgt	0.478000														59			26		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256043	140256043	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140256043C>T	uc003lic.2	+	0	1113	c.986C>T	c.(985-987)tCc>tTc	p.S329F	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.S329F	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	344	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGATTCCTTCCATGGCAGGT	0.433000														67			27		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181764162	181764162	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181764162C>T	uc009wxt.3	+	45	6385	c.6190C>T	c.(6190-6192)Cgc>Tgc	p.R2064C	CACNA1E_uc001gow.3_Missense_Mutation_p.R2021C|CACNA1E_uc009wxs.3_Missense_Mutation_p.R2002C	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2064					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						GTCAGCCCACCGCCTGAACTC	0.547000														35			12		0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16475029	16475031	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16475029_16475031GG>AA	uc001aya.2	-	2	820_822	c.665_667CC>TT	c.(664-669)tccctg>tTTtg	p.222_223SL>F	EPHA2_uc010oca.2_Missense_Mutation_p.222_223SL>F	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	222	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACAGTGGCCAGGGAAGGTGCATC	0.665000														55			7		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130286841	130286841	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:130286841C>T	uc001qgg.4	-	2	1448	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	364	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TTACCTAGTTCATGGGCCAGG	0.572000														166			75		0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154767930	154767930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:154767930G>A	uc022aqg.1	-	5	593	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C	PAXIP1_uc022aqf.1_Missense_Mutation_p.R184C|PAXIP1_uc022aqh.1_Missense_Mutation_p.R150C|PAXIP1_uc022aqi.1_Missense_Mutation_p.R148C|PAXIP1_uc003wlr.1_Missense_Mutation_p.R93C	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	Homo sapiens PAX interacting (with transcription-activation domain) protein 1 (PAXIP1), mRNA.	184					DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ATAATCAGACGAGGATGATAA	0.398000														38			8		0	0	1	0	0
IL7	3574	broad.mit.edu	37	8	79710412	79710412	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:79710412G>A	uc003ybg.3	-	1	643	c.42C>T	c.(40-42)ccC>ccT	p.P14P	IL7_uc022awh.1_Silent_p.P14P|IL7_uc022awi.1_Silent_p.P14P|IL7_uc022awj.1_Silent_p.P14P|IL7_uc003ybh.3_Non-coding_Transcript|IL7_uc003ybi.3_Non-coding_Transcript	NM_000880	NP_000871	P13232	IL7_HUMAN	Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA.	14					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						CAAGGATCAGGGGAGGAAGTC	0.353000														51			13		0	0	1	0	0
POPDC3	64208	broad.mit.edu	37	6	105609583	105609583	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:105609583C>T	uc003prb.3	-	1	604	c.202G>A	c.(202-204)Gct>Act	p.A68T	BVES-AS1_uc003pqz.3_Intron|POPDC3_uc003pra.3_Intron	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	Homo sapiens popeye domain containing 3 (POPDC3), transcript variant 1, mRNA.	68						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TCTACCCAAGCCCAGACAGCA	0.423000														55			45		0	0	1	0	0
MAPK13	5603	broad.mit.edu	37	6	36099123	36099123	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:36099123C>T	uc003ols.3	+	1	293	c.195C>T	c.(193-195)ttC>ttT	p.F65F	MAPK13_uc003olt.3_Non-coding_Transcript	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	65	Protein kinase.				Ras protein signal transduction|cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CCGAGATCTTCGCCAAGCGCG	0.662000														80			13		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10323457	10323457	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10323457G>A	uc002gmm.2	-	2	183	c.88C>T	c.(88-90)Caa>Taa	p.Q30*	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	30	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGCTTGTTTTGGGCCTCAATC	0.478000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					103			78		0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49639110	49639110	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49639110C>T	uc002pmr.3	+	13	1927	c.1595C>T	c.(1594-1596)cCc>cTc	p.P532L	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc010emt.3_Missense_Mutation_p.P456L|PPFIA3_uc010yaj.1_Non-coding_Transcript|PPFIA3_uc002pms.3_Missense_Mutation_p.P400L	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	532						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CACCTGGATCCCTATGTGGCT	0.627000														63			29		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052768	15052768	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15052768C>T	uc010xoc.2	+	0	468	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TCATGGGTTCCTTGCTTGAGA	0.522000														172			78		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50947861	50947861	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50947861G>A	uc009xog.3	-	15	2280	c.2246C>T	c.(2245-2247)gCc>gTc	p.A749V	OGDHL_uc001jie.3_Missense_Mutation_p.A722V|OGDHL_uc010qgt.2_Missense_Mutation_p.A665V|OGDHL_uc010qgu.2_Missense_Mutation_p.A513V	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	722					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ATTGGGGCTGGCCATGGCATA	0.562000														37			17		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97078893	97078893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:97078893C>T	uc021rcc.1	+	8	1244	c.1166C>T	c.(1165-1167)tCa>tTa	p.S389L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	389										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTTGGCCCCTCACTCACCAAT	0.468000														40			16		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113105810	113105810	+	Silent	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113105810C>G	uc021qqp.1	+	14	2193	c.1821C>G	c.(1819-1821)gcC>gcG	p.A607A	NCAM1_uc001pnp.3_Silent_p.A571A|NCAM1_uc021qqo.1_Silent_p.A571A|NCAM1_uc001pnq.3_Silent_p.A581A|NCAM1_uc001pnr.3_Silent_p.A571A	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	583					axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAACGTACGCCGTAAGGCTGG	0.552000														11			6		0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133650208	133650208	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133650208G>A	uc003ytk.3	-	3	476	c.402C>T	c.(400-402)ttC>ttT	p.F134F	LRRC6_uc022bbp.1_Silent_p.F134F|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	134	LRRCT.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTGCTACCACGAACTCCCTAT	0.418000														68			18		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756444	94756444	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94756444C>T	uc001yct.3	-	1	953	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	SERPINA10_uc001ycu.4_Missense_Mutation_p.G163R	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.	163					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)		GCAAAACTCCCCTGTGTGAGG	0.507000														82			34		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289451	107289451	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107289451G>A	uc011lvn.2	-	0	40	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AGTCCCAGAAGAATGAATTCT	0.398000														100			10		0	0	1	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242742894	242742894	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242742894C>T	uc002wcj.1	+	3	641	c.510C>T	c.(508-510)ttC>ttT	p.F170F		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA.	170					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGGACGCGTTCCTGGCCTCGC	0.627000														15			7		0	0	1	0	0
C15orf33	196951	broad.mit.edu	37	15	49800440	49800440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:49800440C>T	uc001zxl.2	-	10	1274	c.980G>A	c.(979-981)aGa>aAa	p.R327K	C15orf33_uc001zxm.3_Missense_Mutation_p.R293K	NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	327										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		GTCTGCAATTCTTTCCTTTAC	0.348000														123			8		0	0	1	0	0
URM1	81605	broad.mit.edu	37	9	131151740	131151740	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131151740C>T	uc011may.1	+	3	451	c.389C>T	c.(388-390)cCa>cTa	p.P130L	URM1_uc004buv.2_Intron	NM_001135947	NP_001129419	Q9BTM9	URM1_HUMAN	Homo sapiens ubiquitin related modifier 1 (URM1), transcript variant 2, mRNA.	0					tRNA thio-modification|tRNA wobble uridine modification		protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						TCTCCCACTCCAGGTGAGGAA	0.562000														5			7		0	0	1	0	0
MYL2	4633	broad.mit.edu	37	12	111353546	111353546	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:111353546C>T	uc001try.4	-	2	213	c.142G>A	c.(142-144)Gat>Aat	p.D48N	MYL2_uc001trx.4_Missense_Mutation_p.D29N	NM_000432	NP_000423	P10916	MLRV_HUMAN	Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA.	48	EF-hand 1.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	p.D48Y(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						TCTCTCAGATCGTTCTTGTCA	0.527000														128			59		0	0	1	0	0
XRRA1	143570	broad.mit.edu	37	11	74559185	74559185	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:74559185C>T	uc009yub.3	-	14	2011	c.1679G>A	c.(1678-1680)aGc>aAc	p.S560N	XRRA1_uc001ovm.2_Non-coding_Transcript|XRRA1_uc001ovn.3_Missense_Mutation_p.S183N|XRRA1_uc001ovo.3_Missense_Mutation_p.S168N|XRRA1_uc001ovp.4_Missense_Mutation_p.S285N|XRRA1_uc001ovq.4_Missense_Mutation_p.S473N|XRRA1_uc001ovr.2_Missense_Mutation_p.S183N|XRRA1_uc001ovs.1_Missense_Mutation_p.S162N	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	Homo sapiens X-ray radiation resistance associated 1 (XRRA1), mRNA.	560					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGACTCTGTGCTCTTGGAGTC	0.577000														29			7		0	0	1	0	0
MIPOL1	145282	broad.mit.edu	37	14	37969339	37969339	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:37969339C>T	uc001wud.3	+	13	1900	c.1258C>T	c.(1258-1260)Caa>Taa	p.Q420*	MIPOL1_uc010amr.2_Non-coding_Transcript|MIPOL1_uc001wub.4_Nonsense_Mutation_p.Q389*|MIPOL1_uc010ams.3_Nonsense_Mutation_p.Q420*|MIPOL1_uc001wuc.3_Nonsense_Mutation_p.Q420*|MIPOL1_uc001wue.3_Nonsense_Mutation_p.Q389*|MIPOL1_uc010amt.3_Nonsense_Mutation_p.Q239*	NM_001195297	NP_001182226	Q8TD10	MIPO1_HUMAN	Homo sapiens mirror-image polydactyly 1 (MIPOL1), transcript variant 2, mRNA.	420										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		TGAAAAAGTTCAAAAGTAAGT	0.358000														39			8		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55924936	55924936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55924936G>A	uc003pcs.3	-	27	2720	c.2488C>T	c.(2488-2490)Cct>Tct	p.P830S	COL21A1_uc010jzz.3_Missense_Mutation_p.P215S|COL21A1_uc011dxg.2_Missense_Mutation_p.P203S|COL21A1_uc011dxh.2_Intron|COL21A1_uc003pcr.3_Missense_Mutation_p.P187S	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	830	Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GGTGGCCCAGGAATACCCGGG	0.522000														36			14		0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214228839	214228839	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:214228839G>A	uc002veq.3	+	7	894	c.802G>A	c.(802-804)Gga>Aga	p.G268R	SPAG16_uc010fuz.2_Missense_Mutation_p.G119R|SPAG16_uc002ver.3_Missense_Mutation_p.G214R|SPAG16_uc010zjk.2_Missense_Mutation_p.G174R|SPAG16_uc002ves.1_Missense_Mutation_p.G237R	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	268					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ACTGCAAAGAGGACATAGTTA	0.284000														23			11		0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88201751	88201751	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:88201751G>A	uc011lte.2	-	20	3131	c.3064C>T	c.(3064-3066)Ccc>Tcc	p.P1022S	AGTPBP1_uc004aod.4_Missense_Mutation_p.P636S|AGTPBP1_uc011ltc.2_Intron|AGTPBP1_uc011ltd.2_Missense_Mutation_p.P1010S|AGTPBP1_uc010mqc.3_Missense_Mutation_p.P970S	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	1010					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CTTACCAAGGGTAAACGCTTC	0.373000														85			21		0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96952164	96952165	+	Missense_Mutation	DNP	GG	AA	AA	rs143175658		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:96952164_96952165GG>AA	uc002svu.3	-	28	4019_4020	c.3887_3888CC>TT	c.(3886-3888)ccc>cTT	p.P1296L	SNRNP200_uc002svt.3_5'Flank|SNRNP200_uc010yuj.2_5'Flank|SNRNP200_uc002svv.1_5'Flank	NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	1296						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CGGTTGGAGGGGGGTACTTCTC	0.500000														101			32		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120438859	120438859	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:120438859G>A	uc001eij.3	-	0	289	c.101C>T	c.(100-102)cCt>cTt	p.P34L		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	34					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CTCCCCTTCAGGGTGAAAAAT	0.512000														55			10		0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89531449	89531449	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:89531449G>A	uc001pdb.3	-	7	1537	c.1208C>T	c.(1207-1209)cCa>cTa	p.P403L		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	403	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGTAGGTTTTGGGATATATTG	0.423000														115			13		0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47569694	47569694	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47569694G>A	uc002pga.4	-	14	3869	c.3831C>T	c.(3829-3831)gcC>gcT	p.A1277A	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	1277							nucleic acid binding|zinc ion binding	p.P1276P(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CACCCTCGCGGGCCGGACTGT	0.637000														1			5		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105010414	105010414	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:105010414C>T	uc003yls.3	+	16	2620	c.2379_splice	c.e16-1	p.S793_splice	RIMS2_uc003ylp.3_Intron|RIMS2_uc003ylw.2_Splice_Site_p.S807_splice|RIMS2_uc003ylq.3_Splice_Site_p.S807_splice|RIMS2_uc003ylr.3_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1077					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)			TGCTTGCAGTCATTTTCTTAC	0.338000										HNSCC(12;0.0054)				74			39		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48269226	48269226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48269226C>T	uc002iqm.3	-	30	2176	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	684	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACACCACGCTCGCCAGGGAAA	0.642000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							13			3		0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204490	9204490	+	Silent	SNP	G	A	A	rs139852545	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9204490G>A	uc010xkj.2	+	0	570	c.570G>A	c.(568-570)acG>acA	p.T190T		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T190M(1)|p.C189*(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TTTCGTGCACGGACACCTCTG	0.562000														108			48		0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628458	46628458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:46628458C>T	uc002inn.3	-	1	934	c.534G>A	c.(532-534)ggG>ggA	p.G178G	HOXB3_uc010wlm.2_Silent_p.G105G|HOXB3_uc010dbf.3_Silent_p.G178G|HOXB3_uc010dbg.3_Silent_p.G178G|HOXB3_uc002ino.3_Silent_p.G178G|HOXB3_uc010wlk.2_Silent_p.G46G|HOXB3_uc010wll.2_Silent_p.G105G	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	178	Gly-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGCTCTTGTCCCCTCCCccgc	0.756000														20			22		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31332622	31332622	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31332622G>A	uc002ebr.3	+	14	1869	c.1771G>A	c.(1771-1773)Ggc>Agc	p.G591S	ITGAM_uc002ebq.3_Missense_Mutation_p.G590S|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.3_5'UTR|ITGAM_uc002ebs.1_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	590					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ACTGAGTGGGGGCCAGGACCT	0.562000														140			35		0	0	1	0	0
LBX1	10660	broad.mit.edu	37	10	102987154	102987154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:102987154C>T	uc001ksx.3	-	1	864	c.719G>A	c.(718-720)gGc>gAc	p.G240D	FLJ41350_uc010qpy.2_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	Homo sapiens ladybird homeobox 1 (LBX1), mRNA.	240					muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		CTTCGGGGCGCCTGGGGGGAG	0.756000														19			7		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56954746	56954746	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56954746C>T	uc001njl.2	+	1	965	c.818C>T	c.(817-819)cCt>cTt	p.P273L		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	243						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGCCGGGGCCCTCCTGAAGTC	0.592000														127			37		0	0	1	0	0
FITM1	161247	broad.mit.edu	37	14	24600934	24600934	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24600934C>T	uc001wmf.2	+	0	260	c.162C>T	c.(160-162)cgC>cgT	p.R54R		NM_203402	NP_981947	A5D6W6	FITM1_HUMAN	Homo sapiens fat storage-inducing transmembrane protein 1 (FITM1), mRNA.	54					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane		p.R53P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GCTTACGGCGCCTCTACCATG	0.617000														58			22		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10782145	10782145	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10782145G>A	uc003wtk.1	-	2	988	c.961_splice	c.e2+1	p.C321_splice		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	321						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		ggcACTCACAGGGCAGGGTCT	0.692000														67			9		0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34278402	34278402	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34278402G>A	uc002xdw.2	-	4	571	c.494C>T	c.(493-495)tCa>tTa	p.S165L	NFS1_uc002xdt.2_Missense_Mutation_p.S105L|NFS1_uc010zvl.2_Intron|NFS1_uc010zvk.2_5'UTR	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	165					Mo-molybdopterin cofactor biosynthetic process|cysteine metabolic process|iron incorporation into metallo-sulfur cluster|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	AGCTTCCAGTGAACGGCAGGA	0.512000														201			96		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170092404	170092404	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170092404C>T	uc002ues.3	-	28	5079	c.4866G>A	c.(4864-4866)atG>atA	p.M1622I		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1622					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACAAAAGTCCATGTAATCAA	0.443000														77			34		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155959	151155959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151155959C>T	uc011bod.2	-	5	6390	c.6390G>A	c.(6388-6390)atG>atA	p.M2130I	IGSF10_uc011bob.2_Missense_Mutation_p.M157I|IGSF10_uc011boc.2_Missense_Mutation_p.M109I	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2130	Ig-like C2-type 7.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGGACCTTCATTTCATCTT	0.443000														49			14		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178556956	178556956	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178556956G>A	uc003mjw.3	-	15	2536	c.2434C>T	c.(2434-2436)Ctc>Ttc	p.L812F		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	812	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGCCGTGGAGGGGGCCCATG	0.657000														55			22		0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	144276933	144276933	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:144276933G>A	uc002tvm.4	+	10	1076	c.925_splice	c.e10+1	p.G309_splice	ARHGAP15_uc002tvn.3_Splice_Site_p.G75_splice	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	309	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	Rac GTPase activator activity|protein binding			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAGAAAAGAGGTGGGTGACT	0.453000														78			29		0	0	1	0	0
LIN9	286826	broad.mit.edu	37	1	226483628	226483628	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:226483628C>T	uc001hqa.2	-	3	537	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	LIN9_uc001hqb.2_Intron|LIN9_uc001hqc.3_Missense_Mutation_p.R8Q|LIN9_uc009xel.1_Intron	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	60	Sufficient for interaction with RB1.				DNA replication|cell cycle	nucleoplasm				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)		AAGTCGACTTCGTTTTGAATT	0.348000														83			5		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51729087	51729087	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51729087C>T	uc002pwa.2	+	2	487	c.447C>T	c.(445-447)atC>atT	p.I149I	CD33_uc010eos.1_Silent_p.I149I|CD33_uc010eot.1_Silent_p.I22I|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	149	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AAATCCTCATCCCTGGCACTC	0.572000														96			47		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147540	26147540	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:26147540C>T	uc002dof.3	+	1	1734	c.1342C>T	c.(1342-1344)Cag>Tag	p.Q448*		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	448					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCAAGATTTTCAGTGGGAACA	0.468000														14			5		0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819612	50819612	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50819612C>T	uc001jhw.3	+	0	1266	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	276					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TCGGGCCAACCTGCCAGTGGG	0.652000														56			31		0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108999633	108999633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:108999633G>A	uc002tea.1	+	3	851	c.478G>A	c.(478-480)Gga>Aga	p.G160R	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Intron	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	160					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TCCTGCTCCAGGAACATGGGA	0.413000														93			52		0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127474324	127474324	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:127474324C>T	uc003kus.3	+	7	1608	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Nonsense_Mutation_p.R482*	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	482					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCCGATTTTCGAGAGGAAGA	0.373000														129			21		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354073	57354074	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:57354073_57354074CC>TT	uc003xsz.2	-	1	642_643	c.561_562GG>AA	c.(559-564)gggggc>ggAAgc	p.G188S	PENK_uc003xta.3_Missense_Mutation_p.G188S	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	188					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CTCATGAAGCCCCCATATCTCT	0.520000														130			53		0	0	1	0	0
ASB17	127247	broad.mit.edu	37	1	76397607	76397607	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:76397607C>T	uc001dhe.2	-	0	510	c.370G>A	c.(370-372)Gac>Aac	p.D124N	ASB17_uc001dhf.2_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA.	124					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CAACTTCTGTCTTGAACATAG	0.338000														47			6		0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18186640	18186640	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18186640C>T	uc002nhx.1	-	7	790	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	IL12RB1_uc002nhw.1_Missense_Mutation_p.E207K|IL12RB1_uc010xqb.1_Missense_Mutation_p.E207K|IL12RB1_uc002nhy.3_Missense_Mutation_p.E207K	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	207	Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						AGCTGGAATTCCTGGGCCACA	0.597000														76			40		0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160917803	160917803	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160917803G>A	uc001fxd.3	-	6	799	c.741C>T	c.(739-741)ttC>ttT	p.F247F	ITLN2_uc009wts.3_Silent_p.F246F|ITLN2_uc010pju.2_Silent_p.F164F	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	247	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding	p.G246V(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGAACTGAACGAATCCTGCAA	0.468000														76			23		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110819862	110819862	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:110819862G>A	uc003kpf.3	+	10	1355	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	CAMK4_uc010jbv.3_Missense_Mutation_p.E177K|CAMK4_uc003kpg.3_Missense_Mutation_p.E65K	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	374					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGCTATTCCAGAAGGAGAGAA	0.537000														75			15		0	0	1	0	0
ANXA3	306	broad.mit.edu	37	4	79507429	79507429	+	Missense_Mutation	SNP	G	A	A	rs144530066	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:79507429G>A	uc003hld.3	+	5	638	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	110					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGGAACAAACGAAGATGCCTT	0.343000														100			28		0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91404546	91404546	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:91404546G>A	uc001dnw.3	-	2	2648	c.2365C>T	c.(2365-2367)Cct>Tct	p.P789S	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.P789S	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	789					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GGCTTATGAGGGTCTGAAATA	0.358000														76			30		0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234749363	234749364	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234749363_234749364GG>AA	uc002vvg.3	-	7	2128_2129	c.2062_2063CC>TT	c.(2062-2064)ccc>TTc	p.P688F	HJURP_uc010znd.2_Missense_Mutation_p.P627F|HJURP_uc010zne.2_Missense_Mutation_p.P596F	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	688					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GGAGCCCTGGGGTTCTGATAGC	0.589000														100			29		0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109696929	109696929	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:109696929C>T	uc004eor.2	+	2	3330	c.3084C>T	c.(3082-3084)tcC>tcT	p.S1028S	RGAG1_uc011msr.1_Silent_p.S1028S	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	1028										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GAGCAAGGTCCACATCATTTA	0.498000														47			61		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346365	70346365	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:70346365C>T	uc003hek.4	-	5	1621	c.1574G>A	c.(1573-1575)gGg>gAg	p.G525E	UGT2B4_uc011cap.2_Missense_Mutation_p.G389E|UGT2B4_uc003hel.4_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	525					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G525R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATCTCTTTTCCCCTTCTTTCC	0.408000														86			37		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058002	79058002	+	Silent	SNP	C	T	T	rs143941580		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:79058002C>T	uc002bej.4	-	18	4462	c.4251G>A	c.(4249-4251)gcG>gcA	p.A1417A	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1417	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A1417A(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCAGTTTCCCGCTTGCCAGC	0.642000														94			40		0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38230103	38230103	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38230103T>C	uc002ohe.3	-	4	1357	c.1288A>G	c.(1288-1290)Aaa>Gaa	p.K430E	ZNF573_uc010efs.2_Missense_Mutation_p.K343E|ZNF573_uc002ohd.3_Missense_Mutation_p.K428E|ZNF573_uc002ohf.3_Missense_Mutation_p.K372E|ZNF573_uc002ohg.3_Missense_Mutation_p.K342E|ZNF573_uc021utv.1_Missense_Mutation_p.K342E	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TGATGTTGTTTAAGGTAGCCA	0.358000														179			73		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229772115	229772115	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:229772115C>T	uc001hts.1	+	3	1891	c.1755C>T	c.(1753-1755)gcC>gcT	p.A585A	URB2_uc009xfd.1_Silent_p.A585A	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	585						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CCCTGCTGGCCCTTCTCCCGG	0.617000														148			55		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41725472	41725472	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41725472G>A	uc002yyq.1	-	4	1306	c.854C>T	c.(853-855)cCc>cTc	p.P285L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	285	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGAGTCCGAGGGGCGAATGTT	0.537000														94			29		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149521605	149521605	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149521605C>T	uc010lpk.3	+	94	13675	c.13675C>T	c.(13675-13677)Ctc>Ttc	p.L4559F	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4562					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCAACTGGCCTCTCCCCCAC	0.711000														40			16		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050073	42050073	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:42050073G>A	uc001cgz.4	-	3	1609	c.396C>T	c.(394-396)tcC>tcT	p.S132S	HIVEP3_uc001cha.4_Silent_p.S132S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	132					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGCCACGAAGGAGCCAGAGG	0.607000														106			51		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3076448	3076448	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:3076448C>T	uc003bpc.3	+	16	2255	c.1916C>T	c.(1915-1917)tCc>tTc	p.S639F	CNTN4_uc003bpb.1_Missense_Mutation_p.S310F|CNTN4_uc021wsg.1_Missense_Mutation_p.S639F|CNTN4_uc003bpd.1_Missense_Mutation_p.S639F|CNTN4_uc003bpe.3_Missense_Mutation_p.S311F|CNTN4_uc003bpf.3_Missense_Mutation_p.S310F	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	639	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.E638K(1)|p.D639D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACTCCATTCTCCGTGGGCTGG	0.537000														78			26		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128388858	128388858	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:128388858G>A	uc003qbk.3	-	11	2330	c.1963C>T	c.(1963-1965)Cct>Tct	p.P655S	PTPRK_uc010kfc.3_Missense_Mutation_p.P655S|PTPRK_uc003qbj.3_Missense_Mutation_p.P655S|PTPRK_uc011ebu.2_Missense_Mutation_p.P655S|PTPRK_uc003qbl.1_Missense_Mutation_p.P525S|PTPRK_uc011ebv.1_Missense_Mutation_p.P655S	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	655	Fibronectin type-III 4.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TATGTGACAGGAACCTGGTAG	0.522000														51			25		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012767	29012767	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29012767G>A	uc003nlw.2	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AATTTCTGAGGAAAAAGTACA	0.433000														75			29		0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173351826	173351826	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:173351826A>T	uc002uhp.1	+	13	2133	c.1930A>T	c.(1930-1932)Acc>Tcc	p.T644S	ITGA6_uc010zdy.1_Missense_Mutation_p.T525S|ITGA6_uc002uho.1_Missense_Mutation_p.T644S|ITGA6_uc010fqm.1_Missense_Mutation_p.T290S	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	683					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TAAATTTTGCACCCGAGAAGG	0.358000														45			11		0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125562841	125562841	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125562841G>A	uc011lze.2	+	0	440	c.440G>A	c.(439-441)gGa>gAa	p.G147E		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G147R(1)		endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GCCCTGGTGGGAATGGCATGG	0.617000														63			23		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154876048	154876048	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:154876048C>T	uc003wlu.1	+	1	989	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S		NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	309						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCTCATCAGTCCCCTCTGCTC	0.572000														143			46		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94377063	94377063	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:94377063C>T	uc011cdt.2	+	10	2054	c.1796C>T	c.(1795-1797)tCa>tTa	p.S599L	GRID2_uc011cdu.2_Missense_Mutation_p.S504L	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	599					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CAAATGGGATCAATGACGTCT	0.418000														117			24		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96028737	96028737	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96028737G>A	uc001kjk.3	+	16	4967	c.4333G>A	c.(4333-4335)Gat>Aat	p.D1445N	PLCE1_uc010qnx.2_Missense_Mutation_p.D1429N|PLCE1_uc001kjm.3_Missense_Mutation_p.D1137N	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1445	PI-PLC X-box.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GGACGGAGACGATGGGATGCC	0.453000														71			17		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395381	154395381	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:154395381G>A	uc010jih.1	+	0	2122	c.1962G>A	c.(1960-1962)atG>atA	p.M654I		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	654					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCGTCAAATGAAAGAGGATG	0.408000														147			39		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393656	164393656	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:164393656G>A	uc003iqp.4	-	0	1392	c.1231C>T	c.(1231-1233)Caa>Taa	p.Q411*		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	411						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATATTGGCTTGAGAAATGGCT	0.498000														32			18		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970966	123970966	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:123970966G>A	uc001lfv.3	+	8	7386	c.7026G>A	c.(7024-7026)tgG>tgA	p.W2342*	TACC2_uc001lfw.3_Nonsense_Mutation_p.W488*|TACC2_uc009xzx.3_Nonsense_Mutation_p.W2297*|TACC2_uc010qtv.2_Nonsense_Mutation_p.W2346*|TACC2_uc001lfx.3_Nonsense_Mutation_p.W46*|TACC2_uc001lfy.3_Nonsense_Mutation_p.W46*|TACC2_uc001lfz.3_Nonsense_Mutation_p.W420*|TACC2_uc001lga.3_Nonsense_Mutation_p.W420*|TACC2_uc009xzy.3_Nonsense_Mutation_p.W420*|TACC2_uc001lgb.3_Nonsense_Mutation_p.W377*|TACC2_uc010qtw.1_Nonsense_Mutation_p.W437*	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2342	SPAZ.					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)				TTGACAAGTGGGATGACCCCA	0.463000														248			111		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726382	12726382	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12726382C>T	uc001auf.3	+	3	860	c.860C>T	c.(859-861)cCt>cTt	p.P287L		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	287						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TGGCTCAGCCCTGACAACATC	0.512000														106			47		0	0	1	0	0
FAM134A	79137	broad.mit.edu	37	2	220047103	220047103	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220047103C>T	uc002vjw.4	+	8	1520	c.1384C>T	c.(1384-1386)Ccc>Tcc	p.P462S	FAM134A_uc010fwc.3_Missense_Mutation_p.P255S|FAM134A_uc002vjx.3_Intron	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.	462						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGACCCAGCCCCCTCCCCTTC	0.617000														145			69		0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129847804	129847804	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:129847804G>A	uc009yat.3	+	6	744	c.327G>A	c.(325-327)agG>agA	p.R109R	PTPRE_uc001lkb.3_Silent_p.R98R|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Silent_p.R98R|PTPRE_uc001lkc.1_Non-coding_Transcript|PTPRE_uc001lkd.3_Silent_p.R40R|PTPRE_uc010quq.1_5'UTR	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	98					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				AGCAGCAAAGGGTGATGCTGC	0.542000														70			24		0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97527522	97527522	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:97527522G>A	uc002sxg.4	-	10	1943	c.1712C>T	c.(1711-1713)gCc>gTc	p.A571V	SEMA4C_uc002sxf.4_Missense_Mutation_p.A18V|SEMA4C_uc002sxe.3_Missense_Mutation_p.A18V|SEMA4C_uc002sxh.4_Missense_Mutation_p.A518V	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	518	Ig-like C2-type.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GACGCTCCAGGCGCAATAGGG	0.647000														64			17		0	0	1	0	0
AKT1	207	broad.mit.edu	37	14	105239822	105239822	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105239822C>T	uc001ypk.3	-	8	1352	c.798G>A	c.(796-798)tcG>tcA	p.S266S	AKT1_uc001ypl.3_Silent_p.S266S|AKT1_uc010axa.3_Silent_p.S266S|AKT1_uc001ypm.3_Silent_p.S266S|AKT1_uc001ypn.3_Silent_p.S266S|AKT1_uc001ypj.3_5'Flank|AKT1_uc010tyk.2_Silent_p.S204S	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	266	Protein kinase.				G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CGTTCTTCTCCGAGTGCAGGT	0.672000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""									32			4		0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6731807	6731807	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:6731807G>A	uc003sqt.1	-	4	1320	c.766C>T	c.(766-768)Ctc>Ttc	p.L256F	ZNF12_uc011jxa.1_Missense_Mutation_p.L94F|ZNF12_uc003sqs.1_Missense_Mutation_p.L218F	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	256					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGTACAGTGAGGTCCGACATC	0.388000														52			18		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676363	11676363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:11676363C>T	uc021zzo.1	-	1	668	c.416G>A	c.(415-417)aGc>aAc	p.S139N	THSD7A_uc021zzn.1_Missense_Mutation_p.S139N	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	139						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTTCTCTAGGCTTTTTGAAAT	0.458000										HNSCC(18;0.044)				54			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474049	179474049	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179474049C>T	uc021vsy.1	-	221	44509	c.44284G>A	c.(44284-44286)Gga>Aga	p.G14762R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G8457R|TTN_uc021vta.1_Missense_Mutation_p.G8390R|TTN_uc021vtb.1_Missense_Mutation_p.G8265R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15689	Fibronectin type-III 6.						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)			TGAGATTCTCCCTTTTTGCTG	0.463000														51			10		0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198326	15198326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15198326G>A	uc010xoe.2	+	0	450	c.450G>A	c.(448-450)atG>atA	p.M150I		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CATCATGGATGATCACCAACC	0.562000														43			15		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184298401	184298401	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:184298401C>T	uc003foz.3	+	11	2821	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	795	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TACACCAGTTCCCTGGTACAG	0.642000														66			30		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100594366	100594366	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:100594366C>T	uc003dun.3	-	7	909	c.824G>A	c.(823-825)gGa>gAa	p.G275E	ABI3BP_uc003duo.2_Missense_Mutation_p.G268E|ABI3BP_uc003dup.4_Missense_Mutation_p.G268E	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	275						extracellular space		p.L274L(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TATCACTCCTCCCAGTGGAGC	0.438000														51			15		0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6479870	6479870	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6479870C>T	uc002mfe.3	-	3	218	c.126_splice	c.e3+1	p.Q42_splice	DENND1C_uc002mfd.3_Splice_Site|DENND1C_uc010xje.2_Intron	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	42	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCCTGAATACCTGGTCCCTGA	0.652000														21			12		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845774	123845774	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:123845774G>A	uc001lfv.3	+	3	4119	c.3759G>A	c.(3757-3759)gtG>gtA	p.V1253V	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.V1253V|TACC2_uc010qtv.2_Silent_p.V1253V	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1253						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)				ACAGTGGAGTGAAAGCTGTTT	0.592000														141			17		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32595760	32595760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:32595760G>A	uc002yow.1	-	8	2429	c.1957C>T	c.(1957-1959)Cgc>Tgc	p.R653C	TIAM1_uc011adk.1_Missense_Mutation_p.R653C|TIAM1_uc011adl.1_Missense_Mutation_p.R653C|TIAM1_uc002yox.1_Missense_Mutation_p.R261C	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	653					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	p.R653H(1)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATTCCAAGGCGGCCCATGGCC	0.483000														76			35		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38935268	38935268	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38935268C>T	uc002oit.3	+	6	712	c.582C>T	c.(580-582)ttC>ttT	p.F194F	RYR1_uc002oiu.3_Silent_p.F194F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	194	MIR 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACGCTTCCTTCATGCAGACAC	0.622000														19			10		0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89854724	89854724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:89854724G>A	uc010len.3	+	2	834	c.328G>A	c.(328-330)Ggt>Agt	p.G110S	STEAP2_uc003ujy.2_Missense_Mutation_p.G152S|STEAP2_uc003uka.3_Missense_Mutation_p.G110S|STEAP2_uc003ujz.3_Missense_Mutation_p.G110S|STEAP2_uc003ukc.3_Missense_Mutation_p.G110S|STEAP2_uc003ukb.3_Missense_Mutation_p.G110S|STEAP2_uc003ukd.3_Missense_Mutation_p.G110S	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	110					Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TCTGCTTGTGGGTAAAATCCT	0.378000														142			70		0	0	1	0	0
C15orf54	400360	broad.mit.edu	37	15	39544722	39544722	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:39544722G>A	uc001zkg.2	+	1	754	c.386G>A	c.(385-387)tGg>tAg	p.W129*	C15orf54_uc021sjb.1_Nonsense_Mutation_p.W129*	NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	Homo sapiens chromosome 15 open reading frame 54 (C15orf54), mRNA.	129										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		TCTCCTGGGTGGAAGAACATG	0.468000														112			40		0	0	1	0	0
AHCY	191	broad.mit.edu	37	20	32879235	32879235	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:32879235G>A	uc002xai.3	-	4	687	c.548C>T	c.(547-549)tCc>tTc	p.S183F	AHCY_uc002xaj.3_Missense_Mutation_p.S155F	NM_000687	NP_001155238	P23526	SAHH_HUMAN	Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1, mRNA.	183					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTTGGTGACGGAGTCATTGAC	0.572000														96			44		0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685672	125685672	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:125685672C>T	uc022cds.1	-	0	920	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	DCAF12L1_uc004eul.3_Missense_Mutation_p.R307Q	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	307										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						CACATTATCCCGGAAGTAGGG	0.582000														26			34		0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129663406	129663406	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:129663406G>A	uc003vpi.3	-	7	1205	c.1178C>T	c.(1177-1179)cCa>cTa	p.P393L	ZC3HC1_uc010lma.3_Intron	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	393					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					AGGGCTAGATGGTACCTCCAG	0.607000														116			47		0	0	1	0	0
MSS51	118490	broad.mit.edu	37	10	75184446	75184446	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:75184446G>A	uc009xrh.3	-	7	1390	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	MSS51_uc001juc.3_3'UTR|MSS51_uc001jud.3_Silent_p.S416S|MSS51_uc009xrg.3_Silent_p.S195S	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	Homo sapiens zinc finger, MYND-type containing 17 (ZMYND17), mRNA.	416							zinc ion binding										CAGGTTTGAGGGACATGAAAG	0.453000														115			12		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110911	81110911	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81110911C>T	uc001szg.2	+	0	204	c.69C>T	c.(67-69)tcC>tcT	p.S23S		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	23					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GCATACCGTCCCCCGAGGGTG	0.617000														28			26		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31606007	31606007	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:31606007C>T	uc002rnv.1	-	10	977	c.898G>A	c.(898-900)Gga>Aga	p.G300R		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	300	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CAAGCAGCTCCAAAGGAGATA	0.522000														51			17		0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	15991445	15991445	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:15991445G>A	uc003goo.2	-	17	2198	c.1986C>T	c.(1984-1986)ccC>ccT	p.P662P	PROM1_uc003gor.2_Silent_p.P662P|PROM1_uc003gos.2_Silent_p.P653P|PROM1_uc003got.2_Silent_p.P662P|PROM1_uc003gou.2_Silent_p.P653P|PROM1_uc003gop.2_Silent_p.P653P|PROM1_uc003goq.3_Silent_p.P653P	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	662					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AATTTCCTGGGGGCTACAAAA	0.438000														7			3		0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128452782	128452782	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128452782G>A	uc003vnv.2	+	13	2978	c.2562G>A	c.(2560-2562)gtG>gtA	p.V854V	CCDC136_uc003vnu.2_Intron|CCDC136_uc003vnx.2_Silent_p.V670V|CCDC136_uc010llq.2_Silent_p.V223V|CCDC136_uc003vny.2_Silent_p.V464V	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	854						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AAATGGTTGTGAAAGTGCTGA	0.577000														34			16		0	0	1	0	0
QRFPR	84109	broad.mit.edu	37	4	122250756	122250756	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:122250756C>T	uc010inj.1	-	5	1388	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_3'UTR	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.	337						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TTGAAGTTTTCATTCATAAAT	0.323000														46			13		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24242028	24242028	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24242028G>A	uc003xdz.2	+	0	231	c.11G>A	c.(10-12)gGg>gAg	p.G4E	ADAMDEC1_uc010lub.2_5'UTR|ADAMDEC1_uc011lab.1_5'UTR	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	4					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		ATGCTGCGTGGGATCTCCCAG	0.468000														18			12		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875287	247875287	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247875287G>A	uc001idj.1	-	0	771	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGACGTGAAGGAAAACTGTGG	0.527000														103			37		0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135554246	135554246	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135554246C>T	uc010mzv.3	+	1	1498	c.1240C>T	c.(1240-1242)Cac>Tac	p.H414Y	GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	414					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GCTGAATGTTCACAATTCCCA	0.458000														121			49		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116224391	116224391	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116224391A>G	uc004bhq.3	+	3	534	c.325A>G	c.(325-327)Agc>Ggc	p.S109G	RGS3_uc004bhr.3_5'Flank|RGS3_uc004bhs.3_5'Flank	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	109					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGAGTGGCTAAGCCCTGATAT	0.557000														109			11		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6206765	6206765	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6206765C>T	uc001amb.2	-	9	1661	c.1550G>A	c.(1549-1551)gGg>gAg	p.G517E	CHD5_uc001ama.2_5'Flank|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	517	Chromo 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTAGGACAGCCCTGCCCACTT	0.652000														42			10		0	0	1	0	0
FOXI2	399823	broad.mit.edu	37	10	129536979	129536979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:129536979C>T	uc009yas.2	+	1	707	c.707C>T	c.(706-708)cCa>cTa	p.P236L	BC132944_uc009yar.1_5'Flank	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN	Homo sapiens forkhead box I2 (FOXI2), mRNA.	236					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA 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			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				TCGCCCTCTCCATCCGCACCC	0.751000														16			4		0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27528496	27528496	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27528496G>A	uc002rjo.3	+	4	957	c.654G>A	c.(652-654)gaG>gaA	p.E218E	TRIM54_uc002rjn.3_Silent_p.E260E	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	218					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGGTTTGAGAGCCTGTGCG	0.627000														13			13		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41976634	41976634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:41976634C>T	uc001cgz.4	-	8	7922	c.6709G>A	c.(6709-6711)Gag>Aag	p.E2237K	HIVEP3_uc001cha.4_Missense_Mutation_p.E2236K|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	2237					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCCTGGGCCTCCCGGGCCCCT	0.697000														52			14		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6472810	6472810	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:6472810C>T	uc001iji.1	-	15	2110	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	PRKCQ_uc001ijj.2_Missense_Mutation_p.E643K|PRKCQ_uc009xim.2_Missense_Mutation_p.E580K|PRKCQ_uc009xin.2_Missense_Mutation_p.E607K|PRKCQ_uc010qax.2_Missense_Mutation_p.E518K	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	643	AGC-kinase C-terminal.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TCCTTCCGTTCAAGTTCCTCC	0.602000														68			23		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274171	103274171	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103274171C>T	uc002tca.3	+	1	580	c.438C>T	c.(436-438)ctC>ctT	p.L146L		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	146						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGTACCTCCTCCCACCCATCG	0.458000														237			63		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131522171	131522171	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:131522171C>T	uc021voy.1	+	0	2526	c.2526C>T	c.(2524-2526)ctC>ctT	p.L842L	FAM123C_uc002trw.2_Silent_p.L842L|FAM123C_uc010fmv.2_Silent_p.L842L|FAM123C_uc010fms.1_Silent_p.L842L|FAM123C_uc010fmt.1_Silent_p.L842L|FAM123C_uc010fmu.1_Silent_p.L842L	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	842										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GTGAGGGCCTCCTCTGTGGCC	0.627000														14			8		0	0	1	0	0
STARD7	56910	broad.mit.edu	37	2	96859059	96859059	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:96859059G>A	uc002svm.4	-	3	982	c.581C>T	c.(580-582)gCc>gTc	p.A194V	STARD7_uc002svl.3_5'UTR	NM_020151	NP_064536	Q9NQZ5	STAR7_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 7 (STARD7), mRNA.	194	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						GATTACCAGGGCATCCCATTT	0.423000														98			48		0	0	1	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117774392	117774392	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:117774392G>A	uc001prs.2	-	11	1801	c.1655C>T	c.(1654-1656)cCc>cTc	p.P552L	TMPRSS13_uc009yzr.2_Missense_Mutation_p.P517L|TMPRSS13_uc021qrc.1_Missense_Mutation_p.P552L|TMPRSS13_uc001prt.1_Missense_Mutation_p.P231L	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	547	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GTAAATCCAGGGAAGAACTTC	0.577000														28			14		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76022865	76022865	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:76022865C>T	uc010kbe.3	-	5	3222	c.2692G>A	c.(2692-2694)Ggg>Agg	p.G898R	FILIP1_uc003phy.1_Missense_Mutation_p.G895R|FILIP1_uc003phz.3_Missense_Mutation_p.G796R|FILIP1_uc003pia.3_Missense_Mutation_p.G895R|FILIP1_uc003pib.1_Missense_Mutation_p.G647R	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	895										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCTGGGTGCCCTGGACTGGAA	0.532000														100			9		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113312259	113312259	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113312259G>A	uc010mtz.3	-	1	994	c.657C>T	c.(655-657)ttC>ttT	p.F219F	SVEP1_uc010mua.1_Silent_p.F219F|SVEP1_uc004beu.2_Silent_p.F219F|SVEP1_uc004bev.3_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	219	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGCCAAAAGTGAAGATCTCCA	0.458000														54			13		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232556	21232556	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21232556C>T	uc002red.3	-	25	7312	c.7184G>A	c.(7183-7185)gGa>gAa	p.G2395E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2395					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCAATAAATCCAACCAATTT	0.313000														25			8		0	0	1	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74364604	74364604	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74364604C>T	uc002axa.1	-	13	1589	c.1548G>A	c.(1546-1548)cgG>cgA	p.R516R	DQ572823_uc010ulg.2_5'Flank|DQ582073_uc021sqc.1_5'Flank	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA.	516										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TTGGCGTGGGCCGAGGCGCCT	0.632000														175			17		0	0	1	0	0
TPTE2P3	220115	broad.mit.edu	37	13	53105788	53105788	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:53105788C>T	uc001vgw.3	+	12		c.1480C>T								Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3 (TPTE2P3), non-coding RNA.																		AAGAGTTTTTCGTCTGGCTCA	0.338000														11			4		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73045661	73045661	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:73045661G>A	uc010izf.3	+	3	210	c.34_splice	c.e3-1	p.G12_splice	RGNEF_uc011csq.2_Splice_Site_p.G12_splice|RGNEF_uc003kcy.1_Splice_Site_p.G12_splice|RGNEF_uc021yam.1_Splice_Site_p.G12_splice	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	12					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TCCTTTTTCAGGGGCAGATGA	0.418000														49			16		0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33623141	33623141	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:33623141C>T	uc002nui.3	+	0	144	c.66C>T	c.(64-66)tcC>tcT	p.S22S		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	22										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CGCCACCCTCCGCCCCCGCCA	0.701000														72			8		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53225195	53225195	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53225195C>T	uc001sbb.3	-	1	726	c.693G>A	c.(691-693)aaG>aaA	p.K231K	KRT79_uc001sba.3_5'Flank	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	231	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCACTTGTTCTTGAAGTCCT	0.642000														107			35		0	0	1	0	0
CELA2A	63036	broad.mit.edu	37	1	15789950	15789950	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:15789950C>T	uc001awk.3	+	4	452	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_033440	NP_254275	P08217	CEL2A_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2A (CELA2A), mRNA.	142	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						TGGCCTGCCTCCCTCCTGCCG	0.627000														72			40		0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42458405	42458405	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42458405G>A	uc001zpd.3	-	16	1816	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	VPS39_uc001zpc.3_Silent_p.F544F|VPS39_uc001zpb.3_5'UTR	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	555					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CTGAGTAGGAGAAAATCAAAT	0.512000														63			21		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114111003	114111003	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:114111003G>A	uc003ynu.3	-	4	1058	c.899C>T	c.(898-900)tCt>tTt	p.S300F	CSMD3_uc003ynt.3_Missense_Mutation_p.S260F|CSMD3_uc011lhx.2_Missense_Mutation_p.S300F|CSMD3_uc010mcx.1_Missense_Mutation_p.S300F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	300	CUB 2.					integral to membrane|plasma membrane		p.S300F(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						AGGTGGCTCAGAACCTTCTAT	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				43			8		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54746089	54746089	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54746089C>T	uc010erh.1	-	2	292	c.168G>A	c.(166-168)caG>caA	p.Q56Q	LILRB3_uc002qew.2_Silent_p.Q56Q|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Silent_p.Q56Q|LILRB3_uc002qeh.1_Silent_p.Q56Q|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Silent_p.Q56Q|LILRB3_uc002qek.1_Silent_p.Q56Q|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Silent_p.Q56Q|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Silent_p.Q56Q|LILRB3_uc002qep.1_Silent_p.Q56Q|LILRB3_uc002qeq.1_Silent_p.Q56Q|LILRB3_uc010yep.1_Silent_p.Q56Q|LILRB3_uc010yeq.1_Silent_p.Q56Q|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Silent_p.Q56Q|LILRB3_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	56	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTTGGTACTCCTGGGCCTCCA	0.592000														290			50		0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116037711	116037711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:116037711G>A	uc001lbl.1	+	6	926	c.605G>A	c.(604-606)gGg>gAg	p.G202E	VWA2_uc001lbk.1_Missense_Mutation_p.G202E|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	202	VWFA 1.					extracellular region				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)		GAGCCTAGAGGGCAGCACGTG	0.632000														20			11		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	118810	118810	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000209.1:118810G>A	uc010yie.2	+	2	298	c.287G>A	c.(286-288)gGg>gAg	p.G96E	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.G93E|KIR2DL2_uc002qum.3_Missense_Mutation_p.G96E	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	96	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										GACCTGGCAGGGACCTACAGA	0.527000														149			115		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1103314	1103314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1103314C>T	uc001lsx.1	+	47	8079	c.8052C>T	c.(8050-8052)atC>atT	p.I2684I		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	5050						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCATTTGCATCCCGGTGAGTT	0.602000														56			5		0	0	1	0	0
ACTA2	59	broad.mit.edu	37	10	90695041	90695041	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:90695041C>T	uc001kfp.3	-	8	1189	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Nonsense_Mutation_p.W313*|ACTA2_uc001kfq.3_Nonsense_Mutation_p.W358*|AX748062_uc001kfo.1_Non-coding_Transcript	NM_001613	NP_001604	P62736	ACTA_HUMAN	Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA.	358					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TTTGCTGATCCACATCTGCTG	0.517000											OREG0020356	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		148			10		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26228957	26228957	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26228957C>T	uc003abz.1	+	15	3303	c.3053C>T	c.(3052-3054)cCc>cTc	p.P1018L	MYO18B_uc003aca.1_Missense_Mutation_p.P899L|MYO18B_uc010guy.1_Missense_Mutation_p.P899L|MYO18B_uc010guz.1_Missense_Mutation_p.P899L|MYO18B_uc011aka.1_Missense_Mutation_p.P172L|MYO18B_uc011akb.1_Missense_Mutation_p.P531L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1018	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						GATCAAAATCCCTCTCAGGTA	0.498000														69			27		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191487	66191487	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66191487C>T	uc001ohx.1	+	6	1302	c.1126C>T	c.(1126-1128)Ccc>Tcc	p.P376S	NPAS4_uc010rpc.1_Missense_Mutation_p.P166S	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	376					transcription, DNA-dependent		DNA binding|signal transducer activity	p.F375_P376>S(2)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CACCAGCTTCCCCAGTGCTCC	0.552000														188			81		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26725395	26725395	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:26725395C>T	uc001mra.2	-	4	938	c.625G>A	c.(625-627)Gga>Aga	p.G209R	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Missense_Mutation_p.G209R	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	209					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.G209G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TTGTGGAATCCCCCAGCATGA	0.398000														169			62		0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19480671	19480671	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:19480671G>A	uc002gvx.3	+	16	1604	c.1518G>A	c.(1516-1518)acG>acA	p.T506T	SLC47A1_uc002gvy.1_Silent_p.T506T|SLC47A1_uc010vyz.1_3'UTR|SLC47A1_uc010cqp.1_Silent_p.T204T|SLC47A1_uc010cqq.1_Silent_p.T252T|SLC47A1_uc010vza.1_Silent_p.T218T|SLC47A1_uc010vzb.1_Silent_p.T181T|SLC47A1_uc010vzc.1_Silent_p.T178T	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	506						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GAATTTTAACGAACGATGTTG	0.443000														60			22		0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38320156	38320157	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:38320156_38320157CC>TT	uc010cwt.1	+	6	1503_1504	c.1208_1209CC>TT	c.(1207-1209)tcc>tTT	p.S403F	CASC3_uc010cws.1_Missense_Mutation_p.S403F|CASC3_uc002hue.3_Missense_Mutation_p.S403F	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	403	Necessary for localization in cytoplasmic stress granules.				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GAGAAGAAATCCTATTCCCGGG	0.569000														119			19		0	0	1	0	0
ZFP1	162239	broad.mit.edu	37	16	75203605	75203605	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:75203605C>T	uc002fdq.3	+	3	721	c.597C>T	c.(595-597)ctC>ctT	p.L199L	ZFP1_uc010cgt.3_Silent_p.L166L|ZFP1_uc002fdo.3_Silent_p.L199L|ZFP1_uc002fdp.3_Silent_p.L144L|ZFP1_uc010cgs.3_Silent_p.L144L	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN	Homo sapiens zinc finger protein 1 homolog (mouse) (ZFP1), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						AGTCACTCCTCATTAGTCATA	0.358000														44			13		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72969065	72969065	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:72969065G>A	uc001sxa.3	+	10	2057	c.2027G>A	c.(2026-2028)gGa>gAa	p.G676E		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	676					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						TTGGACAAAGGAAGCTGGCTG	0.333000														57			25		0	0	1	0	0
RGS14	10636	broad.mit.edu	37	5	176795904	176795904	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176795904C>T	uc003mgh.3	+	8	1218	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	RGS14_uc003mgf.3_Silent_p.L346L|RGS14_uc003mgg.1_Silent_p.L193L|RGS14_uc003mgi.3_Silent_p.L116L	NM_006480	NP_006471	O43566	RGS14_HUMAN	Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.	346	Necessary for interaction with RABGEF1 (By similarity).|RBD 1.				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	PML body|cell junction|centrosome|dendritic spine|microtubule|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAGGTCTACCTGGTGGGCAA	0.567000											OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			13		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183090	102183090	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:102183090C>T	uc003dvt.1	+	6	904	c.804C>T	c.(802-804)ttC>ttT	p.F268F	ZPLD1_uc003dvs.1_Silent_p.F252F|ZPLD1_uc011bhg.1_Silent_p.F252F	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	252	ZP.					integral to membrane		p.F268Y(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATGATCTTTTCCTTAGGTAAG	0.313000														90			35		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16902777	16902777	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16902777G>A	uc009vos.1	-	18	2992	c.2104C>T	c.(2104-2106)Caa>Taa	p.Q702*	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Nonsense_Mutation_p.Q160*|NBPF1_uc010oce.1_Nonsense_Mutation_p.Q431*	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	702						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)		CTGAGCTTTTGGACAAGGTGC	0.562000														626			26		0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2511789	2511789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2511789C>T	uc002cqh.3	+	4	678	c.647C>T	c.(646-648)tCc>tTc	p.S216F	C16orf59_uc002cqg.2_Missense_Mutation_p.S49F|C16orf59_uc002cqi.3_Missense_Mutation_p.S49F|C16orf59_uc010uwb.2_Missense_Mutation_p.S49F	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	216										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				AAAGCAGCTTCCCAGAACTCG	0.612000														79			16		0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817892	7817892	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7817892C>T	uc001mfp.1	-	0	598	c.598G>A	c.(598-600)Gga>Aga	p.G200R		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGATGGATCCAGAAGAAAAT	0.453000														83			8		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90347765	90347765	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90347765G>C	uc002bop.4	-	4	1273	c.981C>G	c.(979-981)ttC>ttG	p.F327L		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	327	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GACCAGCAAAGAAGTTAAGGA	0.597000														140			10		0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218356	134218356	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:134218356C>T	uc001lll.4	+	1	381	c.352C>T	c.(352-354)Cct>Tct	p.P118S	PWWP2B_uc009ybe.3_Missense_Mutation_p.P118S	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	118	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCCCCCGTACCCTCCCTACTT	0.756000														20			17		0	0	1	0	0
ZNF280D	54816	broad.mit.edu	37	15	56961140	56961140	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:56961140G>A	uc002adu.3	-	13	1643	c.1426C>T	c.(1426-1428)Cgt>Tgt	p.R476C	ZNF280D_uc002adv.3_Missense_Mutation_p.R463C|ZNF280D_uc010bfq.3_Missense_Mutation_p.R476C|ZNF280D_uc002adw.1_Missense_Mutation_p.R504C|ZNF280D_uc010bfr.1_Non-coding_Transcript|ZNF280D_uc010bfp.3_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTTGTACAACGATGTATTCCT	0.328000														66			17		0	0	1	0	0
AHCYL2	23382	broad.mit.edu	37	7	128865045	128865045	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128865045C>T	uc011kov.2	+	0	191	c.128C>T	c.(127-129)cCc>cTc	p.P43L	AHCYL2_uc003vot.3_Missense_Mutation_p.P43L	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	43					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GCCATGGCCCCCCCGGCGGGC	0.786000														1			3		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8483425	8483425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:8483425C>T	uc001mgi.1	-	3	1404	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	STK33_uc001mgj.1_Missense_Mutation_p.R162Q|STK33_uc001mgk.1_Missense_Mutation_p.R162Q|STK33_uc010rbn.1_Missense_Mutation_p.R121Q|STK33_uc001mgl.3_5'UTR|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	162	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GTTCACCTCTCGTTCAAGTAA	0.363000														84			33		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139263219	139263219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:139263219C>T	uc003yuy.3	-	5	578	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	FAM135B_uc003yux.3_Missense_Mutation_p.R37Q|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	136								p.S135R(1)		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)			GCCAAGCGTTCGGCTGCTGAC	0.592000										HNSCC(54;0.14)				111			47		0	0	1	0	0
KLRG1	10219	broad.mit.edu	37	12	9161639	9161639	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:9161639G>A	uc001qvh.3	+	3	437	c.426G>A	c.(424-426)agG>agA	p.R142R	KLRG1_uc001qvg.3_Silent_p.R142R	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 1 (KLRG1), mRNA.	142	C-type lectin.				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						CTGGCTGGAGGTGGGAAGATG	0.448000														63			9		0	0	1	0	0
COMMD3-BMI1	100532731	broad.mit.edu	37	10	22616968	22616968	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:22616968G>A	uc009xkg.3	+	9	870	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	COMMD3-BMI1_uc001irh.3_Missense_Mutation_p.E136K	NM_001204062	NP_001190991	P35226	BMI1_HUMAN	Homo sapiens COMMD3-BMI1 readthrough (COMMD3-BMI1), mRNA.	136	Pro/Ser-rich.				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	PcG protein complex|cytoplasm|nucleolus|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding										CTTATCCATTGAATTCTTTGA	0.299000														79			28		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123481366	123481366	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:123481366G>A	uc001uej.1	-	10	1763	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S	PITPNM2_uc001uek.1_Missense_Mutation_p.P522S	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	522					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGGTACTGGGGGGAGGAGGTG	0.617000														75			24		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320560	56320560	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56320560G>A	uc010ygf.2	-	4	2127	c.1416C>T	c.(1414-1416)ccC>ccT	p.P472P	NLRP11_uc002qlz.3_Silent_p.P373P|NLRP11_uc002qmb.3_Silent_p.P373P|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	472							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGCTGCCTGAGGGGATCAGAT	0.398000														72			32		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51215210	51215210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51215210G>A	uc002psx.1	-	5	973	c.954C>T	c.(952-954)atC>atT	p.I318I		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	318					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCACCTGGTGGATTTCCTGCC	0.642000														103			34		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76587742	76587742	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:76587742G>A	uc002fex.1	+	21	3819	c.3680G>A	c.(3679-3681)gGa>gAa	p.G1227E	CNTNAP4_uc002feu.1_Missense_Mutation_p.G1223E|CNTNAP4_uc002fev.1_Missense_Mutation_p.G1088E|CNTNAP4_uc010chb.1_Missense_Mutation_p.G1151E	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1224					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GATCATTCTGGAACAATAGAT	0.373000														19			4		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958704	121958704	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:121958704G>A	uc003idq.1	-	3	949	c.422C>T	c.(421-423)tCc>tTc	p.S141F		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	141	Poly-Ser.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						ACCGGATGGGGAACTAGACGA	0.413000														95			40		0	0	1	0	0
RHOXF1	158800	broad.mit.edu	37	X	119249751	119249751	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:119249751C>T	uc004esk.1	-	0	97	c.22G>A	c.(22-24)Gac>Aac	p.D8N	AK123976_uc004esi.1_Intron	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Homo sapiens Rhox homeobox family, member 1 (RHOXF1), mRNA.	8					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						AACACGGTGTCGTGGACGAGC	0.607000														35			8		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106215	55106215	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55106215C>T	uc002qgh.1	+	3	338	c.156C>T	c.(154-156)atC>atT	p.I52I	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.I52I	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	52	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GTCAGGGGATCCTGGAGACCC	0.577000														101			36		0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90177088	90177088	+	Silent	SNP	C	T	T	rs141497185		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90177088C>T	uc002bof.2	-	11	2498	c.2421G>A	c.(2419-2421)acG>acA	p.T807T	KIF7_uc010upw.1_Silent_p.T293T	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	807					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCAGCCGCTCCGTAGCCTGCT	0.637000														78			14		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119953055	119953055	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:119953055C>T	uc010inb.3	+	3	3321	c.3125C>T	c.(3124-3126)tCa>tTa	p.S1042L	SYNPO2_uc010ina.3_Missense_Mutation_p.S1042L|SYNPO2_uc003icm.4_Missense_Mutation_p.S1042L|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Intron|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	1042						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGGCCTCCTCACCAGTCAGT	0.542000														59			20		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81969958	81969958	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:81969958G>A	uc002fgt.3	+	26	3205	c.3027G>A	c.(3025-3027)atG>atA	p.M1009I		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	1009	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.M1009T(1)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GTTCTCAGATGGTGGCACTCA	0.567000														62			18		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39114782	39114782	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39114782C>T	uc003xmt.4	+	18	2327	c.2082C>T	c.(2080-2082)ctC>ctT	p.L694L	ADAM32_uc011lch.2_Silent_p.L595L|ADAM32_uc003xmu.4_Silent_p.L588L|ADAM32_uc003xmv.3_Silent_p.L118L	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	694					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTCCTATTCTCATTGTAACAA	0.388000														78			26		0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52708472	52708472	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:52708472A>G	uc002aby.2	-	4	726	c.482T>C	c.(481-483)gTa>gCa	p.V161A	MYO5A_uc002abx.3_Missense_Mutation_p.V161A|MYO5A_uc010uge.1_Missense_Mutation_p.V30A	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	161	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTCTCCACTTACGATGATGGA	0.423000														83			31		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52232540	52232540	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:52232540G>A	uc003xqu.4	-	22	4404	c.4303C>T	c.(4303-4305)Ccc>Tcc	p.P1435S	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1435	VWFC.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGGGACAGGGAGCCGGGGGA	0.483000														15			7		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189964865	189964865	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189964865C>T	uc002uqk.3	-	4	612	c.337_splice	c.e4-1	p.G113_splice		NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	113					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCTTTTGTCCCTGTGACATT	0.328000														75			23		0	0	1	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202400940	202400940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:202400940G>A	uc002uyf.3	-	12	1362	c.1310C>T	c.(1309-1311)cCt>cTt	p.P437L	ALS2CR11_uc002uye.3_Missense_Mutation_p.P437L|ALS2CR11_uc010fti.3_Intron|ALS2CR11_uc021vvc.1_Missense_Mutation_p.P437L	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	437										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TGTGGGTGAAGGTGTTGATTC	0.403000														114			58		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31864570	31864570	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:31864570G>A	uc003tcm.2	-	12	1778	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	PDE1C_uc003tcn.1_Silent_p.F439F|PDE1C_uc003tco.2_Silent_p.F499F|PDE1C_uc003tcr.3_Silent_p.F439F|PDE1C_uc003tcs.3_Silent_p.F439F	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	439	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TAAGCACAGTGAAGGTGGGTT	0.473000														95			49		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98413354	98413354	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:98413354G>A	uc002syh.4	-	26	3195	c.2966C>T	c.(2965-2967)tCc>tTc	p.S989F		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	989						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AAAGCGTAAGGAGCTTCCTGG	0.423000														56			23		0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113544905	113544905	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113544905C>T	uc001tun.2	-	15	1958	c.1657G>A	c.(1657-1659)Gaa>Aaa	p.E553K	RASAL1_uc010syp.2_Missense_Mutation_p.E552K|RASAL1_uc001tul.3_Missense_Mutation_p.E552K|RASAL1_uc001tum.2_Missense_Mutation_p.E552K|RASAL1_uc010syq.2_Missense_Mutation_p.E552K|RASAL1_uc001tuo.4_Missense_Mutation_p.E552K|RASAL1_uc010syr.2_3'UTR	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	551					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AACTCACCTTCATCCCCATCC	0.597000														54			23		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748171	19748171	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19748171G>A	uc009zzj.3	-	4	1290	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	395					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ACATGAGATCGAACTTATGGT	0.642000														158			57		0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013021	73013021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:73013021C>T	uc003hgg.2	+	3	1159	c.1061C>T	c.(1060-1062)cCt>cTt	p.P354L	NPFFR2_uc010iig.2_Missense_Mutation_p.P136L|NPFFR2_uc003hgi.2_Missense_Mutation_p.P255L|NPFFR2_uc003hgh.2_Missense_Mutation_p.P252L	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	354					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.V353A(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GCTGCAGTTCCTCACACAGGC	0.498000														64			28		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54403940	54403940	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54403940G>A	uc002qcq.1	+	13	1794	c.1512G>A	c.(1510-1512)gaG>gaA	p.E504E	PRKCG_uc010yeg.1_Silent_p.E504E|PRKCG_uc010yeh.1_Silent_p.E391E	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	504	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TGTGTAAGGAGAACGTCTTCC	0.587000														361			90		0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48157768	48157768	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:48157768C>T	uc001ngp.4	+	8	2148	c.1793C>T	c.(1792-1794)cCg>cTg	p.P598L	PTPRJ_uc010rhr.1_Missense_Mutation_p.P43L	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	598	Fibronectin type-III 6.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGCCTGATTCCGGGCACCTTA	0.512000														42			32		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093720	143093720	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:143093720G>A	uc003qjd.3	-	4	2899	c.2156C>T	c.(2155-2157)aCt>aTt	p.T719I		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	719					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCCCACAGGAGTGCTTACAAT	0.507000														59			24		0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98743903	98743903	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98743903C>T	uc001kmv.3	+	0	2863	c.2756C>T	c.(2755-2757)tCa>tTa	p.S919L		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	919										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TATCCCAGTTCACTACAGGCT	0.468000														84			38		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103444967	103444967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:103444967G>A	uc001dum.3	-	31	2935	c.2617C>T	c.(2617-2619)Cca>Tca	p.P873S	COL11A1_uc001duk.3_Missense_Mutation_p.P57S|COL11A1_uc001dul.3_Missense_Mutation_p.P861S|COL11A1_uc001dun.3_Missense_Mutation_p.P822S|COL11A1_uc009weh.3_Missense_Mutation_p.P745S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	861	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)		TTGGCACCTGGAAACCCAGGG	0.353000														37			17		0	0	1	0	0
SLC10A7	84068	broad.mit.edu	37	4	147227087	147227087	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:147227087G>A	uc010ioz.2	-	6	800	c.546C>T	c.(544-546)atC>atT	p.I182I	SLC10A7_uc003ikr.2_Silent_p.I182I|SLC10A7_uc010ipa.2_Silent_p.I169I|SLC10A7_uc003iks.2_Non-coding_Transcript	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 7 (SLC10A7), transcript variant 2, mRNA.	182						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					CCTGTCCAATGATGAGAGGAA	0.358000														26			9		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367179	107367179	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107367179G>A	uc011lvq.2	-	0	730	c.730C>T	c.(730-732)Cat>Tat	p.H244Y		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ACAGTCAGATGGGCTGAACAG	0.413000														61			33		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44890982	44890982	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44890982C>T	uc010xxa.2	-	3	1489	c.1446G>A	c.(1444-1446)caG>caA	p.Q482Q	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Silent_p.Q475Q	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	768					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						TGTGAACTCTCTGATGAGTGT	0.403000														97			13		0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8073739	8073739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:8073739G>A	uc001aoz.3	-	3	1169	c.920C>T	c.(919-921)tCg>tTg	p.S307L	ERRFI1_uc001apa.1_Missense_Mutation_p.S232L	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.	307					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		ATAGGTGCTCGAAGTAACTTC	0.507000														137			58		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219868840	219868840	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219868840C>T	uc002vjl.1	-	32	5473	c.5389G>A	c.(5389-5391)Gag>Aag	p.E1797K	MIR375_uc010fvz.1_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1797	Glu-rich.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		tcctccttctcctctatctcc	0.567000														100			11		0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32498033	32498033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:32498033G>A	uc003amc.3	+	12	1724	c.1474G>A	c.(1474-1476)Gga>Aga	p.G492R	SLC5A1_uc011alz.2_Missense_Mutation_p.G365R	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	492					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						ACTGATCCTAGGACTTCTGAT	0.483000														58			26		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262543	158262543	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158262543T>C	uc001fru.3	+	3	1060	c.768T>C	c.(766-768)ccT>ccC	p.P256P	CD1C_uc021pbl.1_Non-coding_Transcript	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	256	Ig-like.				T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					ATATTCTTCCTAATGCTGATG	0.527000														95			44		0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6190872	6190872	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6190872G>A	uc010qzy.2	-	0	685	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGGCAAACGAAACACTGCT	0.478000														35			17		0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799331	45799331	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:45799331C>T	uc001jcc.1	-	3	849	c.540G>A	c.(538-540)ctG>ctA	p.L180L	OR13A1_uc001jcd.1_Silent_p.L176L|OR13A1_uc021ppq.1_Silent_p.L180L	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGCGCAGCATCAGCCCCGTGT	0.597000														58			27		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167012436	167012436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:167012436C>T	uc003irh.2	+	18	3246	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W	TLL1_uc011cjn.2_Missense_Mutation_p.R890W|TLL1_uc011cjo.2_Missense_Mutation_p.R691W	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	867	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R867W(2)		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)		AATGTTTGTTCGGTTTGTTTC	0.403000														69			30		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119737589	119737589	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:119737589G>A	uc004bjt.2	-	8	1735	c.1634C>T	c.(1633-1635)cCt>cTt	p.P545L	ASTN2_uc022bml.1_Missense_Mutation_p.P241L|ASTN2_uc022bmm.1_Missense_Mutation_p.P245L	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	596	EGF-like 1.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTTGCTGACAGGAAGCCAGAG	0.552000														47			15		0	0	1	0	0
SLC43A1	8501	broad.mit.edu	37	11	57261486	57261486	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57261486G>A	uc001nkk.3	-	7	969	c.851C>T	c.(850-852)aCc>aTc	p.T284I	SLC43A1_uc001nkl.3_Missense_Mutation_p.T284I	NM_001198810	NP_001185739	O75387	LAT3_HUMAN	Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA.	284					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GTTTTCTGAGGTGCCCCGAAC	0.577000											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			18		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	145001	145002	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:145001_145002CC>TT	uc003jak.2	+	3	853_854	c.803_804CC>TT	c.(802-804)gcc>gTT	p.A268V		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	268					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGTCCAGCTGCCCCTGCCGTCT	0.609000														36			15		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120998597	120998597	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:120998597C>T	uc010rzo.2	+	7	1911	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	637	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACCAGGGCTTCGTCCTCAGCA	0.657000														70			23		0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290858	141290858	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:141290858G>A	uc022cfj.1	-	0	916	c.916C>T	c.(916-918)Cat>Tat	p.H306Y	MAGEC2_uc004fbu.2_Missense_Mutation_p.H306Y	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	306	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTCTGAATGGGCTCTCGGA	0.468000										HNSCC(46;0.14)				39			39		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133044138	133044138	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133044138C>T	uc003ytg.2	-	10	1021	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	OC90_uc011lix.1_Missense_Mutation_p.D341N	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	357	Phospholipase A2-like 2.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CTGTCTAGGTCATCCCTTGGC	0.557000														19			9		0	0	1	0	0
C1orf222	339457	broad.mit.edu	37	1	1854837	1854837	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1854837C>T	uc001aik.3	-	7	1339	c.489G>A	c.(487-489)gcG>gcA	p.A163A	C1orf222_uc001ail.3_Silent_p.A163A			Q69YW0	CA222_HUMAN	RecName: Full=Uncharacterized protein C1orf222;	163										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ATACAGGGATCGCTGTCAGAG	0.662000														9			3		0	0	1	0	0
PDZK1IP1	10158	broad.mit.edu	37	1	47650692	47650692	+	Missense_Mutation	SNP	G	A	A	rs150391778		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47650692G>A	uc001cqw.3	-	2	421	c.254C>T	c.(253-255)tCg>tTg	p.S85L		NM_005764	NP_005755	Q13113	PDZ1I_HUMAN	Homo sapiens PDZK1 interacting protein 1 (PDZK1IP1), mRNA.	85						integral to membrane		p.S85S(1)		endometrium(1)|lung(1)|prostate(1)	3						GGCCGCCATCGAAGAGTACCT	0.602000														57			22		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70890626	70890626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:70890626C>T	uc021vjc.1	-	15	2377	c.2112G>A	c.(2110-2112)aaG>aaA	p.K704K	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_3'UTR|ADD2_uc002sgz.3_Silent_p.K704K	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	704	Interaction with calmodulin (Potential).				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCTTTTTCTTCTTTGAGGGAG	0.527000														233			119		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656476	40656476	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:40656476C>T	uc002rrx.3	-	0	969	c.945G>A	c.(943-945)agG>agA	p.R315R	SLC8A1_uc002rry.3_Silent_p.R315R|SLC8A1_uc002rsb.2_Silent_p.R315R|SLC8A1_uc002rrz.3_Silent_p.R315R|SLC8A1_uc002rsa.3_Silent_p.R315R|SLC8A1_uc002rsd.4_Silent_p.R315R|SLC8A1_uc010fan.1_Silent_p.R315R|SLC8A1_uc002rsc.1_Silent_p.R315R	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	315					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATCTTGGTCCCTCTCATCCA	0.408000														159			72		0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127484521	127484521	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:127484521C>T	uc003kus.3	+	11	2121	c.1957C>T	c.(1957-1959)Cgt>Tgt	p.R653C	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.R653C	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	653					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGAACCTCTTCGTGGCTACAT	0.323000														139			53		0	0	1	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066875	46066875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46066875C>T	uc002zfr.4	+	0	545	c.500C>T	c.(499-501)tCa>tTa	p.S167L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	161	25 X 5 AA repeats of C-C-X(3).					keratin filament		p.S166P(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						GATTCCTCTTCATGCTGCCAG	0.617000														253			63		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63011984	63011984	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:63011984C>T	uc002alb.4	+	21	2896	c.2896C>T	c.(2896-2898)Cct>Tct	p.P966S		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	966	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGATCACATCCCTCAGCTGGT	0.547000														15			23		0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74772585	74772585	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74772585G>A	uc002jta.2	+	12	2120	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	MFSD11_uc002jtd.4_Missense_Mutation_p.D383N|MFSD11_uc002jtb.3_Missense_Mutation_p.D383N|MFSD11_uc002jtc.3_Missense_Mutation_p.D383N|MFSD11_uc002jte.3_Missense_Mutation_p.D383N|MFSD11_uc010dhb.3_Missense_Mutation_p.D331N|MFSD11_uc010dha.3_Missense_Mutation_p.D331N	NM_001242534	NP_001229463	O43934	MFS11_HUMAN	Homo sapiens major facilitator superfamily domain containing 11 (MFSD11), transcript variant 3, mRNA.	383						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						GTATTCTGAAGACAGCGCCCC	0.453000														169			48		0	0	1	0	0
RMND5A	64795	broad.mit.edu	37	2	86980590	86980590	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:86980590C>T	uc002srr.2	+	3	807	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	RMND5A_uc002srs.4_Intron	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	Homo sapiens required for meiotic nuclear division 5 homolog A (S. cerevisiae) (RMND5A), mRNA.	144	LisH.									kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						GGAATCTGGTCTTTCTGTAGA	0.373000														96			45		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381519	81381519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:81381519C>T	uc003uhl.3	-	4	707	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	HGF_uc003uhm.3_Missense_Mutation_p.R176Q|HGF_uc003uhn.1_Missense_Mutation_p.R181Q|HGF_uc003uho.1_Missense_Mutation_p.R176Q|HGF_uc003uhp.3_Missense_Mutation_p.R181Q	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	181	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTCTTCCCCTCGAGGATTTCG	0.433000														93			20		0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270630	84270630	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84270630C>T	uc010voc.2	-	1	583	c.462G>A	c.(460-462)gaG>gaA	p.E154E	KCNG4_uc002fhu.1_Silent_p.E154E	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	154						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCAGGTGGGCCTCCTCGATGC	0.652000														40			18		0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615307	55615307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55615307C>T	uc010spf.2	+	0	499	c.499C>T	c.(499-501)Cct>Tct	p.P167S		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GATGGCCCTTCCTTTCTGTGG	0.478000														96			34		0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66811158	66811158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66811158C>T	uc009yrl.3	+	4	901	c.671C>T	c.(670-672)cCc>cTc	p.P224L	SYT12_uc001oju.3_Missense_Mutation_p.P224L	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	224	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TTCTCCATCCCCCTGGATCCC	0.567000														97			43		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141359	143141359	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143141359C>T	uc011ktg.2	+	0	814	c.814C>T	c.(814-816)Cca>Tca	p.P272S	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	272					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					AGGTATTTTTCCACCTCTGGA	0.488000														137			67		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74154189	74154189	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:74154189G>A	uc021ulp.1	-	2	1140	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGCCGTGGTCGAAGGAGCCCC	0.647000														31			14		0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959264	45959264	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45959264G>A	uc002zfh.1	-	0	815	c.770C>T	c.(769-771)tCc>tTc	p.S257F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	257	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGCCTGGCAGGAGGAGGCAGG	0.726000														50			18		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184101325	184101325	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:184101325G>A	uc003fov.3	+	11	1581	c.1335G>A	c.(1333-1335)ggG>ggA	p.G445G	CHRD_uc003fow.3_Silent_p.G75G|CHRD_uc003fox.3_Silent_p.G445G|CHRD_uc003foy.3_Silent_p.G75G|CHRD_uc010hyc.3_Intron|CHRD_uc011brr.2_Silent_p.G75G	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	445	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAGTGGTAGGGACAAGCAGTG	0.637000														42			9		0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38051317	38051317	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38051317C>T	uc003ati.3	+	17	2470	c.1732C>T	c.(1732-1734)Ccc>Tcc	p.P578S	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc003ath.1_Intron|SH3BP1_uc003atj.1_Intron|SH3BP1_uc003atk.1_Intron|AK097791_uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	578					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CATGCCGCCCCCCCAGGTCTC	0.721000														14			8		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463032	26463032	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:26463032C>T	uc001isn.2	+	29	4199	c.3839C>T	c.(3838-3840)tCc>tTc	p.S1280F	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1280					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATGAGACTTCCTTTAAAAAA	0.398000														40			16		0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10165979	10165979	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10165979G>A	uc010dwx.2	+	14		c.1842G>A								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CACCTCCAAGGGGAACCCAGG	0.592000														61			16		0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107956543	107956544	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:107956543_107956544CC>TT	uc003hyi.3	-	0	910_911	c.205_206GG>AA	c.(205-207)ggc>AAc	p.G69N	DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.G69N	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	69					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CAGGTTTTTGCCCTTCTTACTG	0.579000														77			11		0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57132039	57132039	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:57132039G>A	uc003dil.3	-	11	1781	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	IL17RD_uc003dik.3_Silent_p.F540F|IL17RD_uc010hna.3_Silent_p.F420F|IL17RD_uc011bex.1_Silent_p.F420F	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	564						Golgi membrane|integral to membrane|plasma membrane	receptor activity	p.F420F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GGAAGGGAACGAACTGCTTTT	0.527000														42			10		0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13182884	13182884	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:13182884G>A	uc003nah.2	+	6	1003	c.630G>A	c.(628-630)gaG>gaA	p.E210E	PHACTR1_uc011dir.2_Silent_p.E210E|PHACTR1_uc010jpc.3_Silent_p.E210E|PHACTR1_uc003nag.2_Silent_p.E210E	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	210						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCTCATATGAGGTGCTCCAAC	0.592000														94			7		0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97620289	97620289	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:97620289G>A	uc010qoj.2	+	7	1237	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	ENTPD1_uc001kli.4_Missense_Mutation_p.E387K|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Missense_Mutation_p.E272K|ENTPD1_uc010qol.2_Missense_Mutation_p.E272K|ENTPD1_uc001klh.4_Missense_Mutation_p.E380K|ENTPD1_uc010qom.2_Missense_Mutation_p.E339K|ENTPD1_uc010qon.2_Missense_Mutation_p.E242K|ENTPD1_uc009xva.3_Missense_Mutation_p.E242K	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	380					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AGTCTCTCAGGAAAAGGTGAC	0.433000														34			14		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130501159	130501160	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130501159_130501160CC>TT	uc004bsc.3	-	11	2590_2591	c.2448_2449GG>AA	c.(2446-2451)acggag>acAAag	p.E817K	SH2D3C_uc010mxo.3_Missense_Mutation_p.E657K|SH2D3C_uc004bry.3_Missense_Mutation_p.E659K|SH2D3C_uc004brz.4_Missense_Mutation_p.E463K|SH2D3C_uc011mak.2_Missense_Mutation_p.E463K|SH2D3C_uc004bsb.3_Missense_Mutation_p.E749K|SH2D3C_uc004bsa.3_Missense_Mutation_p.E660K	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	817	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATCTGGAACTCCGTGCTGAACA	0.644000														8			4		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578782	9578782	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9578782G>A	uc002mlp.1	-	9	1051	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	ZNF560_uc010dwr.1_Nonsense_Mutation_p.Q175*	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTCTGGACCTGAACATTTAAA	0.383000														98			40		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170076982	170076982	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170076982G>C	uc002ues.3	-	33	5843	c.5630C>G	c.(5629-5631)aCt>aGt	p.T1877S		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1877					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGATCAACAGTTATGCCAAT	0.418000														47			20		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33165256	33165256	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:33165256C>T	uc001wrq.3	+	8	3110	c.2940C>T	c.(2938-2940)tcC>tcT	p.S980S	AKAP6_uc010aml.3_Silent_p.S977S	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	980					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACATGGAGTCCCTTGTGATGG	0.468000														53			24		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179643770	179643770	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179643770C>T	uc021vsy.1	-	23	4264	c.4039G>A	c.(4039-4041)Gct>Act	p.A1347T	TTN_uc021vsz.1_Missense_Mutation_p.A1301T|TTN_uc021vta.1_Missense_Mutation_p.A1301T|TTN_uc021vtb.1_Missense_Mutation_p.A1301T|TTN_uc002unb.2_Missense_Mutation_p.A1347T|AK123298_uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1347	Ig-like 5.		A -> T (in a metastatic melanoma sample; somatic mutation).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A1301T(1)		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)			CGCAGACTAGCTCTGCCATCT	0.403000														57			14		0	0	1	0	0
FAM55B	120406	broad.mit.edu	37	11	114569186	114569186	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:114569186G>A	uc009yyy.2	+	2	650	c.552G>A	c.(550-552)gaG>gaA	p.E184E		NM_182495	NP_872301	Q96DL1	FA55B_HUMAN	Homo sapiens family with sequence similarity 55, member B (FAM55B), mRNA.	184						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|lung(6)|ovary(1)	14						TGTTCTGGGAGGGCCAGGTTT	0.547000														36			8		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49663097	49663097	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:49663097C>T	uc001jgu.3	-	5	1085	c.788G>A	c.(787-789)aGg>aAg	p.R263K	ARHGAP22_uc001jgs.3_Missense_Mutation_p.R157K|ARHGAP22_uc001jgt.3_Missense_Mutation_p.R247K|ARHGAP22_uc010qgl.2_Missense_Mutation_p.R204K|ARHGAP22_uc010qgm.2_Missense_Mutation_p.R253K|ARHGAP22_uc001jgv.3_Splice_Site	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	247	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCCTCGTACCTGGCGAAGGG	0.667000														22			6		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10788459	10788459	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:10788459G>A	uc002czz.1	-	0	344	c.272C>T	c.(271-273)cCc>cTc	p.P91L		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	91					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CCAGTCGTGGGGGCTATAGCG	0.672000														68			16		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167798579	167798579	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167798579G>A	uc001ger.3	-	25	3974	c.3676C>T	c.(3676-3678)Cac>Tac	p.H1226Y	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.H1073Y|ADCY10_uc009wvk.3_Missense_Mutation_p.H1134Y	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1226					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TACTTGCAGTGAAAAAGATAA	0.433000														110			30		0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51503250	51503250	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51503250G>A	uc001zyz.4	-	10	1518	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S	CYP19A1_uc001zza.4_Missense_Mutation_p.P423S	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	423					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TACCTATAAGGAACCTATGAA	0.443000														39			12		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38655202	38655202	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38655202C>T	uc002ohk.3	+	14	4373	c.3864C>T	c.(3862-3864)ttC>ttT	p.F1288F		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1288					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACCGCTGGTTCGACCCCCTGG	0.607000														93			9		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17596843	17596843	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17596843C>T	uc001bai.3	+	6	808	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	256					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCCTGTCCTTCCCTGATGCCG	0.582000														65			31		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84690161	84690161	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:84690161G>A	uc002bjz.4	+	26	4498	c.4274_splice	c.e26-1	p.E1425_splice	ADAMTSL3_uc010bmt.1_Splice_Site_p.E1425_splice	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1425	TSP type-1 8.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTTTCTGCAGAGCCTTTTTG	0.488000														206			13		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42154381	42154381	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42154381G>A	uc001zos.3	-	43	7723	c.7390C>T	c.(7390-7392)Cct>Tct	p.P2464S		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2499					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGGCTGCGAGGAGCGGGGCTC	0.622000														17			6		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105421934	105421934	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105421934C>T	uc010axc.1	-	4	472	c.352G>A	c.(352-354)Gag>Aag	p.E118K	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.E18K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	118	PDZ.					nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTCCACCTCTGTCTTCAGC	0.587000														53			24		0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65008433	65008433	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:65008433C>T	uc001xhj.3	+	1	942	c.866C>T	c.(865-867)tCg>tTg	p.S289L	HSPA2_uc001xhk.4_Missense_Mutation_p.S289L	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	289					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GAGATCGACTCGCTCTACGAG	0.667000														19			8		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104125	53104125	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:53104125C>T	uc003tpz.3	+	0	777	c.761C>T	c.(760-762)tCc>tTc	p.S254F		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	254								p.S254S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCTTGGCCTTCCGTGCTGGTC	0.637000														61			33		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57745960	57745960	+	Missense_Mutation	SNP	G	A	A	rs149480547		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:57745960G>A	uc010bfw.3	+	7	2327	c.2134G>A	c.(2134-2136)Gat>Aat	p.D712N	CGNL1_uc002aeg.3_Missense_Mutation_p.D712N	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	712						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGAAATGCACGATGAACTGGA	0.562000														34			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064299	9064299	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9064299G>A	uc002mkp.3	-	2	23351	c.23147C>T	c.(23146-23148)cCt>cTt	p.P7716L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7718	Ser-rich.|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						TGAAGTCACAGGAAGGGGAGA	0.547000														77			14		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915363	39915363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39915363C>T	uc010xuz.2	+	18	3915	c.3590C>T	c.(3589-3591)tCg>tTg	p.S1197L	PLEKHG2_uc010xuy.2_Missense_Mutation_p.S1138L|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.S975L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	1197					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCACACCTTCGTTGGAGCAG	0.572000														195			82		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169791926	169791926	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169791926C>T	uc002ueo.1	-	22	2950	c.2824G>A	c.(2824-2826)Gaa>Aaa	p.E942K	ABCB11_uc010zda.1_Missense_Mutation_p.E384K|ABCB11_uc010zdb.1_Missense_Mutation_p.E418K	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	942	ABC transmembrane type-1 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTGAGGGCTTCATTTGTAATC	0.448000														187			61		0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139274303	139274303	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139274303G>A	uc004chh.3	-	19	2522	c.2513C>T	c.(2512-2514)gCc>gTc	p.A838V		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	838					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGTGCTCTGGGCACTTGAGGA	0.602000														14			5		0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43023124	43023124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43023124C>T	uc002otv.3	-	4	1357	c.1222G>A	c.(1222-1224)Gac>Aac	p.D408N	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eii.3_Intron|CEACAM1_uc010eij.3_Missense_Mutation_p.D408N|CEACAM1_uc002otw.3_Missense_Mutation_p.D408N|CEACAM1_uc002otx.3_Intron|CEACAM1_uc002oty.3_Intron|CEACAM1_uc002otz.3_Intron|CEACAM1_uc010eik.3_Intron|CEACAM1_uc002oua.3_Missense_Mutation_p.D408N|CEACAM1_uc002oub.3_3'UTR	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	408	Ig-like C2-type 3.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ATGATGGGGTCGCTTTGGTTC	0.488000														125			22		0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46712010	46712010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:46712010C>T	uc011aqy.2	+	6	1345	c.1133C>T	c.(1132-1134)cCc>cTc	p.P378L	GTSE1_uc011aqz.2_Missense_Mutation_p.P225L|GTSE1_uc003bhl.1_Missense_Mutation_p.P3L|GTSE1_uc003bhm.1_Missense_Mutation_p.P3L	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	359					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGAATGGGACCCGCCATGCTG	0.567000														48			38		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81181901	81181901	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:81181901G>A	uc002fgh.1	-	28	4815	c.4815C>T	c.(4813-4815)ttC>ttT	p.F1605F	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1605					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTTGATGGGGAACATGAGGA	0.552000														39			15		0	0	1	0	0
PPYR1	5540	broad.mit.edu	37	10	47087792	47087792	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:47087792G>A	uc001jee.3	+	2	1428	c.1009G>A	c.(1009-1011)Gtg>Atg	p.V337M	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.V337M|PPYR1_uc021ppu.1_Missense_Mutation_p.V337M	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	337					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAAGGCCCTGGTGCTGACTTG	0.562000														120			18		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21235486	21235486	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21235486G>A	uc002red.3	-	25	4382	c.4254C>T	c.(4252-4254)ttC>ttT	p.F1418F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1418				F -> S (in Ref. 5; CAA28420).	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.T1417M(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)	ATGATAGTGTGAACGTATTCT	0.348000														67			28		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209797190	209797190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:209797190G>A	uc001hhg.3	-	13	2522	c.2132C>T	c.(2131-2133)cCt>cTt	p.P711L	LAMB3_uc009xco.3_Missense_Mutation_p.P711L|LAMB3_uc001hhh.3_Missense_Mutation_p.P711L|LAMB3_uc010psl.1_Non-coding_Transcript|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	711	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTCACCTGAAGGATCAGCACT	0.557000														73			38		0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88732726	88732726	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:88732726C>T	uc003hqx.4	+	6	716	c.618C>T	c.(616-618)gtC>gtT	p.V206V		NM_004967	NP_004958	P21815	SIAL_HUMAN	Homo sapiens integrin-binding sialoprotein (IBSP), mRNA.	206					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AAGAAAGTGTCACTGGAGCCA	0.537000														52			14		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55421210	55421210	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55421210C>T	uc001sgp.4	+	1	1365	c.987C>T	c.(985-987)ttC>ttT	p.F329F	NEUROD4_uc021qyr.1_Silent_p.F329F	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	329					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						ATACAGTCTTCACTGAGTGAG	0.428000														300			161		0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6862869	6862869	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:6862869G>A	uc003gjr.4	+	6	1223	c.760G>A	c.(760-762)Gag>Aag	p.E254K	KIAA0232_uc003gjq.4_Missense_Mutation_p.E254K	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	254							ATP binding	p.N253Y(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AAGCAAAAACGAGAAGGAAAA	0.428000														72			12		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1268745	1268745	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1268745G>A	uc003jcb.1	-	8	2530	c.2472C>T	c.(2470-2472)tcC>tcT	p.S824S	TERT_uc003jbz.1_Silent_p.S20S|TERT_uc003jcc.1_Silent_p.S824S|TERT_uc003jca.1_Silent_p.S812S|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_5'UTR	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	824	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACTGGACGTAGGACCTGGGGC	0.602000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					41			10		0	0	1	0	0
MRPS35	60488	broad.mit.edu	37	12	27872744	27872744	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:27872744C>T	uc001rih.3	+	3	396	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S	MRPS35_uc001rii.3_Missense_Mutation_p.P109S	NM_021821	NP_068593	P82673	RT35_HUMAN	Homo sapiens mitochondrial ribosomal protein S35 (MRPS35), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	109					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					ATTTAAGATTCCCAATTTTCT	0.274000														67			15		0	0	1	0	0
C4orf33	132321	broad.mit.edu	37	4	130023817	130023817	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:130023817C>T	uc003igu.4	+	1	416	c.52C>T	c.(52-54)Ccc>Tcc	p.P18S	C4orf33_uc010ioc.1_Missense_Mutation_p.P18S|C4orf33_uc010iod.3_Missense_Mutation_p.P18S	NM_173487	NP_775758	Q8N1A6	CD033_HUMAN	Homo sapiens chromosome 4 open reading frame 33 (C4orf33), transcript variant 1, mRNA.	18										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GAAGCATGAGCCCGTATTTAT	0.398000														83			20		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211093356	211093356	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:211093356C>T	uc001hib.2	-	6	1258	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	KCNH1_uc001hic.2_Missense_Mutation_p.R336Q	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	363					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.R363Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACGGGCCACTCGCCCAAGACG	0.562000														111			21		0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73104007	73104007	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73104007C>A	uc001jrr.4	+	2	399	c.342C>A	c.(340-342)ccC>ccA	p.P114P	SLC29A3_uc001jrs.4_Silent_p.P114P|SLC29A3_uc010qjq.2_Intron|SLC29A3_uc001jrt.4_Intron	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	114					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CCACCGTGCCCTCCATGCTGT	0.587000														64			25		2.41591e-17	2.42797e-17	1	1	0
CYP4Z1	199974	broad.mit.edu	37	1	47560332	47560332	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47560332G>A	uc001cqu.1	+	6	870	c.867G>A	c.(865-867)ttG>ttA	p.L289L		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	289						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ACATACTTTTGAGTGCCAAAG	0.398000														51			17		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92191472	92191472	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:92191472G>A	uc001xzs.1	-	2	260	c.120C>T	c.(118-120)ttC>ttT	p.F40F		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	40					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TCTCTTGAGGGAACCCTTTGT	0.313000														34			14		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680643	128680643	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:128680643G>A	uc010sbu.2	+	8	1462	c.1119G>A	c.(1117-1119)ccG>ccA	p.P373P	FLI1_uc010sbt.2_Silent_p.P180P|FLI1_uc010sbv.2_Silent_p.P340P|FLI1_uc009zci.3_Silent_p.P307P	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	373					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AGCCACATCCGACCGAGTCGT	0.478000			T	EWSR1	Ewing sarcoma									40			10		0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46753846	46753846	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46753846G>A	uc003cqe.1	-	5	1530	c.1048C>T	c.(1048-1050)Caa>Taa	p.Q350*	PRSS50_uc021wxe.1_Nonsense_Mutation_p.Q350*|PRSS50_uc003cqf.2_Nonsense_Mutation_p.Q264*	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	350	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						ATCCAGTGTTGGTAGGAGGAG	0.657000														25			6		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63059013	63059013	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63059013G>A	uc009yor.3	+	2	611	c.403_splice	c.e2-1	p.W135_splice	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Splice_Site|SLC22A10_uc010rmp.1_Splice_Site_p.W83_splice	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	135						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCTTCCAGTGGGACCTGGTA	0.468000														44			16		0	0	1	0	0
PTGDS	5730	broad.mit.edu	37	9	139873732	139873732	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139873732C>T	uc004cke.3	+	2	1342	c.312C>T	c.(310-312)tcC>tcT	p.S104S	PTGDS_uc004ckd.3_Non-coding_Transcript	NM_000954	NP_000945	P41222	PTGDS_HUMAN	Homo sapiens prostaglandin D2 synthase 21kDa (brain) (PTGDS), mRNA.	104					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCTCGGCTCCTACAGCTACC	0.701000														78			28		0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38311470	38311470	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:38311470C>T	uc001wuj.3	+	13	1927	c.1825C>T	c.(1825-1827)Ctt>Ttt	p.L609F	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.L512F|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		AGCACTTGATCTTGAAGACTA	0.363000														98			39		0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24579067	24579067	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:24579067G>A	uc002zzn.1	+	1	163	c.119G>A	c.(118-120)gGg>gAg	p.G40E		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	40	SMB.				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						GCCCTGGACGGGCCATGTTCC	0.632000														182			18		0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25811976	25811976	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:25811976G>A	uc003nfh.4	-	8	1036	c.920C>T	c.(919-921)cCc>cTc	p.P307L	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Missense_Mutation_p.P307L|SLC17A1_uc010jqc.1_Missense_Mutation_p.P251L	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	307					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						AAACAAATAGGGAAGGGAAGA	0.433000														86			19		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96962966	96962966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:96962966C>T	uc010how.1	+	4	1484	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	EPHA6_uc003drp.1_Missense_Mutation_p.R481C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	386	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						TGGAGGACTCCGCTTCATCCC	0.448000														46			19		0	0	1	0	0
COQ3	51805	broad.mit.edu	37	6	99819417	99819417	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:99819417G>A	uc003ppk.3	-	5	803	c.776C>T	c.(775-777)tCc>tTc	p.S259F		NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN	Homo sapiens coenzyme Q3 homolog, methyltransferase (S. cerevisiae) (COQ3), mRNA.	259					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		CAAGGCATAGGAAAGTTGTGT	0.338000														30			23		0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27018589	27018589	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:27018589G>A	uc003acz.4	+	1	64	c.29G>A	c.(28-30)gGa>gAa	p.G10E		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	10	N-terminal arm.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						AAGTCAGCGGGACCCTGGAAG	0.542000														62			7		0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519041	53519041	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:53519041C>T	uc003pcb.4	-	1	1171	c.1030G>A	c.(1030-1032)Gga>Aga	p.G344R		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TTGCTCCATCCATTTTCAGGG	0.498000														79			28		0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79441966	79441966	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:79441966G>A	uc011ctj.2	-	10	1342	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	SERINC5_uc003kgj.3_Silent_p.F395F|SERINC5_uc003kgm.3_Silent_p.F395F|SERINC5_uc003kgk.3_Silent_p.F393F|SERINC5_uc003kgl.3_Non-coding_Transcript	NM_001174072	NP_001167543	Q86VE9	SERC5_HUMAN	Homo sapiens serine incorporator 5 (SERINC5), transcript variant 1, mRNA.	395					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GGAAGAACACGAAGTGGAAGT	0.488000														173			25		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048690	42048690	+	Silent	SNP	G	A	A	rs35586296		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:42048690G>A	uc001cgz.4	-	3	2992	c.1779C>T	c.(1777-1779)atC>atT	p.I593I	HIVEP3_uc001cha.4_Silent_p.I593I|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	593	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AAGGTAATTCGATTGCCGGCT	0.582000														88			29		0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121107034	121107034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:121107034G>A	uc002tmn.2	+	1	854	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	270					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CCCAGGCGAAGAGTCGCACCG	0.672000														81			36		0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103564043	103564043	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:103564043G>A	uc003ykt.2	+	0	196	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	30					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			ATGCATCGACGAATTTAGCAC	0.493000														143			53		0	0	1	0	0
CCDC164	92749	broad.mit.edu	37	2	26676280	26676281	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:26676280_26676281GG>AA	uc002rhg.2	+	13	1856_1857	c.1782_1783GG>AA	c.(1780-1785)atggag>atAAag	p.594_595ME>IK		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	594	Glu-rich.									cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						agacggagatggagggagaaaa	0.569000														69			28		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45679538	45679538	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45679538C>T	uc002zeg.1	-	3	692	c.208G>A	c.(208-210)Gga>Aga	p.G70R	DNMT3L_uc002zeh.1_Missense_Mutation_p.G70R	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	70	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CAGATCCCTCCCTCAAACAGA	0.552000														25			7		0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20181577	20181577	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:20181577G>A	uc021qez.1	-	0	294	c.291C>T	c.(289-291)gcC>gcT	p.A97A	DBX1_uc021qey.1_Silent_p.A98A	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	Homo sapiens developing brain homeobox 1 (DBX1), mRNA.	98					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T97T(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CAGGGGAGAAGGCAGTCGGCG	0.706000														8			5		0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117100449	117100449	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:117100449G>A	uc001pqr.3	-	2	313	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	RNF214_uc001pqt.3_5'Flank	NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	38					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTCCCTGCCAGGCCCATGACC	0.652000			T	IGH@	MLCLS									29			11		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184299059	184299059	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:184299059G>A	uc003foz.3	+	14	3188	c.2751G>A	c.(2749-2751)ctG>ctA	p.L917L		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	917						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGCCCCTCCTGGACCGCACGG	0.577000														110			45		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6896430	6896430	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6896430C>T	uc002mfw.3	+	2	154	c.116C>T	c.(115-117)aCc>aTc	p.T39I	EMR1_uc010dvc.3_Missense_Mutation_p.T39I|EMR1_uc010dvb.3_Missense_Mutation_p.T39I|EMR1_uc010xji.2_Missense_Mutation_p.T39I|EMR1_uc010xjj.2_Missense_Mutation_p.T39I	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	39	EGF-like 1.				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)					AGAGACAGTACCTTGTGCCCA	0.453000														171			31		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802134	185802134	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:185802134G>A	uc002uph.3	+	3	2605	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	671						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGTGACAATGAAGAAATGTG	0.313000														94			28		0	0	1	0	0
SNX15	29907	broad.mit.edu	37	11	64803081	64803081	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64803081C>T	uc001oci.4	+	8	1264	c.610C>T	c.(610-612)Cga>Tga	p.R204*	SNX15_uc001ock.3_Nonsense_Mutation_p.R204*	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.	204					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TTCCCCTGCCCGAGGCCCCCT	0.637000														147			54		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675455	62675455	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62675455G>A	uc021ooc.1	+	5	1444	c.1009_splice	c.e5-1	p.D337_splice	L1TD1_uc001dae.4_Splice_Site_p.D337_splice	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	337										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TAACTTTCAGGATAAAACCCT	0.294000														79			19		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60814282	60814282	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:60814282C>T	uc010dds.3	-	6	1346	c.1061G>A	c.(1060-1062)aGa>aAa	p.R354K	MARCH10_uc010ddr.3_Missense_Mutation_p.R316K|MARCH10_uc002jag.4_Missense_Mutation_p.R316K|MARCH10_uc002jah.2_Missense_Mutation_p.R315K|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	316							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AAATCTACTTCTTTTGTGATG	0.453000														311			114		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154886389	154886389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:154886389C>T	uc010hvr.1	+	18	2100	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F	MME_uc003fab.1_Missense_Mutation_p.S630F|MME_uc003fac.1_Missense_Mutation_p.S630F|MME_uc003fad.1_Missense_Mutation_p.S630F|MME_uc003fae.1_Missense_Mutation_p.S630F	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	630					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GGAAACTTTTCCTGGGACCTG	0.403000														101			38		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43351577	43351577	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:43351577C>T	uc003tid.1	+	3	848	c.243C>T	c.(241-243)ctC>ctT	p.L81L	HECW1_uc011kbi.1_Silent_p.L81L|HECW1_uc003tie.1_Silent_p.L113L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	81					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCTCCACGCTCATGGTCAGCA	0.612000														73			21		0	0	1	0	0
NACC2	138151	broad.mit.edu	37	9	138903368	138903368	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:138903368G>A	uc004cgv.4	-	5	1914	c.1758C>T	c.(1756-1758)acC>acT	p.T586T	NACC2_uc010nbh.3_Silent_p.T225T	NM_144653	NP_653254	Q96BF6	NACC2_HUMAN	Homo sapiens NACC family member 2, BEN and BTB (POZ) domain containing (NACC2), mRNA.	586					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						CCGCTTACAAGGTCCCTGCAT	0.647000														48			30		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897082	36897082	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36897082C>T	uc003cgj.3	-	11	4247	c.3999G>A	c.(3997-3999)ggG>ggA	p.G1333G		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1333					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACCGTTTCCTCCCTAATTTCT	0.428000														110			43		0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54040554	54040554	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:54040554C>T	uc001jjm.3	+	12	1592	c.1364C>T	c.(1363-1365)tCg>tTg	p.S455L	PRKG1_uc001jjo.3_Missense_Mutation_p.S470L|PRKG1_uc009xow.2_Missense_Mutation_p.S173L|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	455	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)		CTCAGAGGTTCGTTTGAAGAT	0.343000														84			25		0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43670062	43670062	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43670062C>T	uc001zro.3	+	4	642	c.402C>T	c.(400-402)ccC>ccT	p.P134P	TUBGCP4_uc001zrn.3_Silent_p.P134P|TUBGCP4_uc010bdh.3_Non-coding_Transcript	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	134					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TTCTTTTTCCCTCTGTGATGG	0.323000														103			29		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10104446	10104446	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10104446C>T	uc002mmq.1	-	16	1710	c.1624G>A	c.(1624-1626)Ggg>Agg	p.G542R		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	542	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.G542R(2)		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)			CCAGTGTCCCCTGGGAGGCCC	0.582000														98			41		0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11568980	11568980	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11568980C>T	uc002mry.1	-	4	989	c.609G>A	c.(607-609)gcG>gcA	p.A203A	ELAVL3_uc002mrx.1_Silent_p.A203A	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	203	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	p.A203A(2)|p.A203T(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TTGGGTTGTTCGCGAACTTGA	0.602000														64			29		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921487	24921487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24921487G>A	uc001ywo.3	+	0	947	c.473G>A	c.(472-474)aGa>aAa	p.R158K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	158					cell differentiation|multicellular organismal development|spermatogenesis			p.P157P(1)		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)		GAAGGGCCCAGAAGAGTGAAG	0.617000														37			12		0	0	1	0	0
GOLPH3	64083	broad.mit.edu	37	5	32126481	32126481	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:32126481G>A	uc003jhp.1	-	3	1019	c.734C>T	c.(733-735)gCc>gTc	p.A245V		NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN	Homo sapiens golgi phosphoprotein 3 (coat-protein) (GOLPH3), mRNA.	245					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	Golgi cisterna membrane|cytosol|endosome|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GACGTCCGAGGCATGAGCCAG	0.537000														70			34		0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109283259	109283259	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:109283259G>A	uc001tnr.4	+	3	995	c.324G>A	c.(322-324)aaG>aaA	p.K108K	DAO_uc001tnq.4_Intron|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	108					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CTTCCTGGAAGGACACAGTTC	0.537000														65			18		0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327383	52327383	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52327383C>T	uc002pxt.1	+	1	566	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	FPR3_uc021uyq.1_Silent_p.L128L	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	128					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TATTTGTGTCCTGCATCCAGC	0.468000														63			31		0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93483112	93483113	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:93483112_93483113GG>AA	uc001ybg.3	-	3	443_444	c.154_155CC>TT	c.(154-156)ccc>TTc	p.P52F	ITPK1_uc001ybe.2_Missense_Mutation_p.P52F|ITPK1_uc001ybf.3_5'UTR|ITPK1_uc001ybh.3_Missense_Mutation_p.P52F	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	Homo sapiens inositol-tetrakisphosphate 1-kinase (ITPK1), transcript variant 1, mRNA.	52					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GACGTCCAGGGGGCCCTGCTCC	0.574000														81			22		0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20034416	20034416	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:20034416C>T	uc010nfo.2	-	10	1557	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K	MAP7D2_uc004czq.2_Silent_p.K324K|MAP7D2_uc011mji.2_Silent_p.K387K|MAP7D2_uc004czr.2_Silent_p.K439K|MAP7D2_uc011mjj.2_Silent_p.K394K	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	439										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						cctcctctgcctttcttttca	0.463000														10			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066331	9066331	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9066331A>T	uc002mkp.3	-	2	21319	c.21115T>A	c.(21115-21117)Tct>Act	p.S7039T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7041	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						TGTGAGGTAGACCCAGAAGGA	0.483000														140			52		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226032	158226033	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158226032_158226033GG>AA	uc001frt.3	+	2	1097_1098	c.564_565GG>AA	c.(562-567)ttgggt>ttAAgt	p.G189S	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	189	Ig-like.				antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GTTTCATCTTGGGTCTTCTTGA	0.460000														86			17		0	0	1	0	0
FAM124B	79843	broad.mit.edu	37	2	225265794	225265794	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:225265794C>T	uc002vnx.3	-	0	918	c.692G>A	c.(691-693)tGg>tAg	p.W231*	FAM124B_uc002vnw.3_Nonsense_Mutation_p.W231*	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.	231							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CTGAGTCTGCCACCTGGTGCT	0.488000														75			23		0	0	1	0	0
DMRT1	1761	broad.mit.edu	37	9	916880	916880	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:916880C>T	uc003zgv.3	+	3	1089	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S		NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 1 (DMRT1), mRNA.	314					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		TGAGGATGCTCCCTCTTACCC	0.557000														79			8		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586491	15586491	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15586491G>A	uc002nbg.3	-	1	1123	c.990C>T	c.(988-990)tcC>tcT	p.S330S	PGLYRP2_uc002nbf.4_Silent_p.S330S	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	330					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGGCCAGGATGGAGGCTGAAG	0.617000														40			16		0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458788	248458788	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248458788G>A	uc010pzj.2	-	0	93	c.93C>T	c.(91-93)gcC>gcT	p.A31A		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	31					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)			TCAAAACGGTGGCCAGAAGCA	0.493000														176			19		0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95058564	95058564	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:95058564G>A	uc001ydm.2	+	5	1419	c.1209G>A	c.(1207-1209)gtG>gtA	p.V403V	SERPINA3_uc001ydo.4_Intron	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	403					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TTGGCAAAGTGAACCGCCCCT	0.532000														258			117		0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41059569	41059569	+	Missense_Mutation	SNP	G	A	A	rs104894568		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:41059569G>A	uc002icb.1	+	2	449	c.370G>A	c.(370-372)Gca>Aca	p.A124T	G6PC_uc010whf.1_Intron	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	124			A -> T (in GSD1A).		gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CATGGGCACAGCAGGTGTATA	0.498000														29			20		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43808945	43808945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:43808945G>A	uc002rsw.4	-	7	1008	c.656C>T	c.(655-657)tCc>tTc	p.S219F	THADA_uc002rsx.4_Missense_Mutation_p.S219F|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc002rsz.3_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.S219F|THADA_uc002rtc.4_Missense_Mutation_p.S219F|THADA_uc002rtd.3_Missense_Mutation_p.S219F	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	219							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GGGAGAATCGGAAGTCTTCCA	0.333000														73			18		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45472166	45472166	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45472166C>T	uc002zea.3	+	3	460	c.291C>T	c.(289-291)acC>acT	p.T97T	TRAPPC10_uc010gpo.3_5'UTR|TRAPPC10_uc002zdz.3_Silent_p.T97T	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	97					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TTTAGGATACCGAAGTGTATA	0.398000														117			8		0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59728228	59728228	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:59728228G>A	uc003xtw.1	-	6	1282	c.1061C>T	c.(1060-1062)tCg>tTg	p.S354L		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	354						nucleus	DNA binding	p.S354L(4)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CGACGGCTTCGAATTGATCAG	0.522000														52			14		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952897	119952897	+	Silent	SNP	C	T	T	rs145945905		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:119952897C>T	uc010inb.3	+	3	3163	c.2967C>T	c.(2965-2967)ccC>ccT	p.P989P	SYNPO2_uc010ina.3_Silent_p.P989P|SYNPO2_uc003icm.4_Silent_p.P989P|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Silent_p.P917P|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	989						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATGGCCTCCCCCAGAAGTCAT	0.512000														60			5		0	0	1	0	0
KIF2A	3796	broad.mit.edu	37	5	61654077	61654077	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:61654077C>T	uc003jsy.4	+	8	1134	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	KIF2A_uc003jsz.4_Missense_Mutation_p.R275C|KIF2A_uc003jsx.4_Missense_Mutation_p.R255C|KIF2A_uc010iwp.3_Missense_Mutation_p.R256C|KIF2A_uc010iwq.3_Missense_Mutation_p.R78C	NM_004520	NP_004511	O00139	KIF2A_HUMAN	Homo sapiens kinesin heavy chain member 2A (KIF2A), transcript variant 1, mRNA.	275	Kinesin-motor.				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding	p.R275C(1)|p.R248C(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		CCAAACATTTCGTTTTGATTA	0.323000														42			8		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	31010117	31010117	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:31010117C>T	uc021vfn.1	-	0	107	c.75G>A	c.(73-75)cgG>cgA	p.R25R	CAPN13_uc021vfm.1_Silent_p.R25R|CAPN13_uc002rnp.1_Silent_p.R25R	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	25					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.R25Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GGCAGTGATCCCGCAAGGTGG	0.522000														21			9		0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406911	148406911	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:148406911G>A	uc003lpu.3	-	10	2536	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Missense_Mutation_p.S439F|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Missense_Mutation_p.S342F|SH3TC2_uc010jgx.3_Missense_Mutation_p.S788F|SH3TC2_uc003lpv.1_Missense_Mutation_p.S342F|SH3TC2_uc011dbz.1_Missense_Mutation_p.S680F	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	795							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACTCAAAGGATTCCTGCTC	0.567000														89			11		0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135389715	135389715	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:135389715C>T	uc003lbf.4	+	8	1371	c.1210C>T	c.(1210-1212)Ctc>Ttc	p.L404F	TGFBI_uc003lbg.4_Missense_Mutation_p.L137F|TGFBI_uc003lbh.4_Missense_Mutation_p.L230F|TGFBI_uc011cyb.2_Missense_Mutation_p.L230F	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	404	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGCAATCATCTCTCTGGAAG	0.507000														126			31		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173189	126173189	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:126173189G>A	uc003vlr.2	-	7	2558	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.L749L|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	749					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GTGAACAAATGAGTGAGAGAT	0.463000										HNSCC(24;0.065)				41			9		0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72338188	72338188	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:72338188C>T	uc009zrw.1	+	2	511	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	TPH2_uc001swy.2_Nonsense_Mutation_p.Q34*	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	124	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.I123T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TGAGCTCATTCAGTTGCTGAA	0.433000														117			28		0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160994281	160994281	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:160994281C>T	uc002ubh.2	-	9	1339	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	ITGB6_uc010fou.2_Missense_Mutation_p.D442N|ITGB6_uc010zcq.1_Missense_Mutation_p.D400N|ITGB6_uc010fov.1_Missense_Mutation_p.D442N	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	442					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCCAGGGCATCCCCCAGCCCC	0.493000														75			7		0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887759	47887759	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:47887759G>A	uc002xui.3	-	2	837	c.590C>T	c.(589-591)tCc>tTc	p.S197F		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	197							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATCCATTTTGGAGCTACAAGC	0.448000														118			39		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108819293	108819293	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108819293G>A	uc003dxl.3	-	4	372	c.285C>T	c.(283-285)ttC>ttT	p.F95F	MORC1_uc011bhn.2_Silent_p.F95F	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	95					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATTGCCCTATGAACTTCAAGG	0.363000														134			54		0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43314241	43314241	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:43314241C>T	uc010dnk.3	+	5	734	c.512C>T	c.(511-513)tCa>tTa	p.S171L	SLC14A1_uc002lbi.4_5'UTR|SLC14A1_uc010xcn.2_Missense_Mutation_p.S115L|SLC14A1_uc002lbf.4_Missense_Mutation_p.S115L|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Missense_Mutation_p.S10L|SLC14A1_uc002lbh.4_Missense_Mutation_p.S7L|SLC14A1_uc002lbj.4_Missense_Mutation_p.S171L|SLC14A1_uc002lbk.4_Missense_Mutation_p.S115L|SLC14A1_uc021ujg.1_Missense_Mutation_p.S115L	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	115			W -> R (in dbSNP:rs9948825).			integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCCCACAGGTCATTAATAGCA	0.463000														112			48		0	0	1	0	0
TRIL	9865	broad.mit.edu	37	7	28996398	28996398	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:28996398G>A	uc003szt.3	-	2	1629	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F	DQ601810_uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	Homo sapiens TLR4 interactor with leucine-rich repeats (TRIL), mRNA.	422					inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										AGCGGTCAGGGAAGCTGAGGG	0.687000														69			18		0	0	1	0	0
GSN	2934	broad.mit.edu	37	9	124080952	124080952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:124080952C>T	uc004blf.1	+	8	1199	c.1138C>T	c.(1138-1140)Ctt>Ttt	p.L380F	GSN_uc004bld.1_Missense_Mutation_p.L329F|GSN_uc010mvr.1_Missense_Mutation_p.L340F|GSN_uc010mvq.1_Missense_Mutation_p.L340F|GSN_uc010mvu.1_Missense_Mutation_p.L329F|GSN_uc010mvt.1_Missense_Mutation_p.L329F|GSN_uc010mvs.1_Missense_Mutation_p.L329F|GSN_uc004ble.1_Missense_Mutation_p.L329F|GSN_uc010mvv.1_Missense_Mutation_p.L329F|GSN_uc011lyh.1_Missense_Mutation_p.L346F|GSN_uc011lyi.1_Missense_Mutation_p.L329F|GSN_uc011lyj.1_Missense_Mutation_p.L353F|GSN_uc004blg.1_Missense_Mutation_p.L111F	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	380					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GGTCTCGGTCCTTCCTGAGGG	0.632000														51			18		0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	711134	711134	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:711134C>T	uc003zgl.1	+	6	1017	c.368C>T	c.(367-369)cCc>cTc	p.P123L	KANK1_uc003zgm.3_Missense_Mutation_p.P123L|KANK1_uc003zgn.1_Missense_Mutation_p.P123L|KANK1_uc003zgo.1_Missense_Mutation_p.P123L|KANK1_uc003zgp.1_Missense_Mutation_p.P123L|KANK1_uc003zgq.2_5'UTR|KANK1_uc003zgr.1_5'UTR|KANK1_uc003zgs.1_5'UTR	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	123					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AAGCCACCTCCCCCTCTGGAG	0.502000														57			54		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933552	44933552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44933552C>T	uc002oze.1	-	5	1838	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K	ZNF229_uc010ejk.1_Silent_p.K122K|ZNF229_uc010ejl.1_Silent_p.K462K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGCTGAATCCCTTTCCACACT	0.552000														58			19		0	0	1	0	0
INSL6	11172	broad.mit.edu	37	9	5185414	5185414	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:5185414C>T	uc003zix.3	-	0	205	c.189G>A	c.(187-189)cgG>cgA	p.R63R		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	63						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GTGCAATCAACCGTGAGAAAG	0.572000														86			48		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323637	152323637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152323637C>T	uc001ezw.4	-	2	6698	c.6625G>A	c.(6625-6627)Gga>Aga	p.G2209R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2209							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)			CCTGACTGTCCATGTCGAGAT	0.507000														468			41		0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102965001	102965001	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:102965001C>T	uc003hvy.4	+	10	2180	c.1906C>T	c.(1906-1908)Caa>Taa	p.Q636*	BANK1_uc003hvx.4_Nonsense_Mutation_p.Q621*|BANK1_uc010ill.3_Nonsense_Mutation_p.Q503*|BANK1_uc003hvz.4_Nonsense_Mutation_p.Q606*	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	636					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TACAGTGTTTCAACAAAAGAC	0.328000														153			73		0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19822386	19822386	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19822386G>A	uc002nnk.1	-	3	1858	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F		NM_021030	NP_066358	P17017	ZNF14_HUMAN	Homo sapiens zinc finger protein 14 (ZNF14), mRNA.	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TGGAAGAAATGAAGGCTTTTC	0.413000														69			29		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46243823	46243823	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:46243823C>T	uc001ros.1	+	14	1917	c.1917C>T	c.(1915-1917)atC>atT	p.I639I	ARID2_uc001ror.3_Silent_p.I639I|ARID2_uc009zkg.1_Silent_p.I95I|ARID2_uc009zkh.1_Silent_p.I266I|ARID2_uc001rou.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	639					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTCAGGAATCCCTCATGGAT	0.338000			"""N, S, F"""		hepatocellular carcinoma									54			36		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23177458	23177458	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:23177458G>A	uc003xdh.1	-	7	1749	c.1410C>T	c.(1408-1410)atC>atT	p.I470I	LOXL2_uc010lty.1_Silent_p.I9I	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	470	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TGGCCTCCACGATGCCCCAGT	0.657000														59			27		0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231335984	231335984	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:231335984G>A	uc009xfn.1	+	3	1396	c.1354G>A	c.(1354-1356)Gac>Aac	p.D452N		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	452	COS.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CAAGGAGAACGACCCCTCCGG	0.542000														79			33		0	0	1	0	0
GALR1	2587	broad.mit.edu	37	18	74968155	74968155	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:74968155G>A	uc002lms.4	+	1	1205	c.708G>A	c.(706-708)aaG>aaA	p.K236K		NM_001480	NP_001471	P47211	GALR1_HUMAN	Homo sapiens galanin receptor 1 (GALR1), mRNA.	236					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		ACATGTCAAAGAAGTCTGAAG	0.348000														74			25		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147113688	147113688	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:147113688C>T	uc011bno.2	-	2	975	c.789G>A	c.(787-789)aaG>aaA	p.K263K	ZIC4_uc003ewc.2_Silent_p.K143K|ZIC4_uc021xff.1_Silent_p.K251K|ZIC4_uc003ewd.2_Silent_p.K213K|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	213						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TAGCAAAGACCTTCCCACACC	0.537000														100			41		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940423	144940423	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144940423C>T	uc003zaa.1	-	0	7012	c.6999G>A	c.(6997-6999)gaG>gaA	p.E2333E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2333						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.R2332R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGATGCCGTGCTCCCGGACGA	0.711000														339			24		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590255	140590255	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140590255G>A	uc003liz.3	+	0	1965	c.1776G>A	c.(1774-1776)gtG>gtA	p.V592V	PCDHB12_uc011dak.2_Silent_p.V255V	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	592	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGCGGTGGACGGTGACT	0.701000														301			15		0	0	1	0	0
EAPP	55837	broad.mit.edu	37	14	35005444	35005444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:35005444G>A	uc001wsd.1	-	1	221	c.112C>T	c.(112-114)Cct>Tct	p.P38S		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA.	38					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TTTTGGTCAGGAGTTCCATGT	0.318000														42			20		0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48036926	48036926	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:48036926G>A	uc003gxw.3	+	4	556	c.490G>A	c.(490-492)Gag>Aag	p.E164K		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	164						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						CTTTTTAAACGAGCACTTGAA	0.378000														68			36		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10894144	10894144	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:10894144G>A	uc003mzo.3	+	2	419	c.123G>A	c.(121-123)caG>caA	p.Q41Q	SYCP2L_uc011dim.1_Non-coding_Transcript	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	41						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)			AAGGATTTCAGAAAATAAAAG	0.308000														30			4		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45695845	45695845	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:45695845C>T	uc003jok.3	-	0	376	c.351G>A	c.(349-351)caG>caA	p.Q117Q		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	117	Involved in subunit assembly (By similarity).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CCACCGCCTTCTGGCTCCCAA	0.602000														59			15		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51758498	51758499	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51758498_51758499GG>AA	uc010ufy.2	-	29	7627_7628	c.7402_7403CC>TT	c.(7402-7404)cct>TTt	p.P2468F	DMXL2_uc002abd.3_Missense_Mutation_p.P538F|DMXL2_uc002abf.3_Missense_Mutation_p.P2467F|DMXL2_uc010bfa.3_Missense_Mutation_p.P1831F	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2467						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATCAGACAAAGGAAGAAATGGC	0.243000														84			28		0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44030298	44030298	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:44030298C>T	uc002lcb.1	+	4	706	c.655C>T	c.(655-657)Cac>Tac	p.H219Y	RNF165_uc002lby.1_Missense_Mutation_p.H152Y|RNF165_uc010dnn.1_Missense_Mutation_p.H15Y	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	219							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CCCTCAGCTTCACTTCCTTGC	0.522000														100			20		0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41083492	41083492	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41083492C>T	uc002oob.3	+	3	265	c.216C>T	c.(214-216)ttC>ttT	p.F72F	SHKBP1_uc002ooc.3_Silent_p.F72F|SHKBP1_uc010xvl.1_Missense_Mutation_p.S15L|SHKBP1_uc002ooe.3_5'UTR|SHKBP1_uc010xvm.2_5'Flank|SHKBP1_uc010xvn.2_5'Flank	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	72	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTACAGTCTTCGCCCCCATCC	0.577000														195			92		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29420417	29420417	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29420417G>A	uc002rmy.3	-	26	5016	c.4064C>T	c.(4063-4065)cCt>cTt	p.P1355L	ALK_uc010ymo.2_Missense_Mutation_p.P287L	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1355	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CACAGGCCCAGGGCAGTTCTT	0.438000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome		OREG0014526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		82			34		0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124172600	124172600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124172600C>T	uc001ufp.3	+	6	895	c.767C>T	c.(766-768)tCc>tTc	p.S256F	TCTN2_uc009zya.3_Missense_Mutation_p.S255F	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	256					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ATTTTCAGTTCCCCCAAACAG	0.368000														164			48		0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205272864	205272864	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205272864G>A	uc001hce.3	-	6	1728	c.1601C>T	c.(1600-1602)gCc>gTc	p.A534V		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	534					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCTGGCCCGGGCCAGGGGGCG	0.652000														55			31		0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29226487	29226487	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29226487C>T	uc010ezl.3	+	5	1120	c.769C>T	c.(769-771)Ctt>Ttt	p.L257F	FAM179A_uc010ymm.2_Missense_Mutation_p.L257F	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	257							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCCTGGCTCCCTTCCCAGCCC	0.622000														13			5		0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52472087	52472087	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52472087G>A	uc003dea.1	-	13	1638	c.1638C>T	c.(1636-1638)tcC>tcT	p.S546S		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	546					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AGTGGGTACAGGAGGCACCAT	0.677000														29			10		0	0	1	0	0
BTNL2	56244	broad.mit.edu	37	6	32362678	32362678	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32362678C>T	uc003obg.1	-	5	1203	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	BTNL2_uc010jty.1_Silent_p.T124T|BTNL2_uc010jtz.1_Non-coding_Transcript|BTNL2_uc010jua.1_Silent_p.T191T	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	401						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						ATGATGGTATCGTCTTTCCTT	0.562000														191			25		0	0	1	0	0
AK125237	0	broad.mit.edu	37	10	27552006	27552006	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:27552006G>A	uc001itt.1	+	1		c.262G>A								Homo sapiens cDNA FLJ43247 fis, clone HEART2000611.																		CCCTCTAAATGAAGTGATATT	0.438000														39			20		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44560656	44560656	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44560656C>T	uc003tlb.3	-	12	3071	c.3015G>A	c.(3013-3015)gtG>gtA	p.V1005V	NPC1L1_uc011kbw.2_Silent_p.V959V|NPC1L1_uc003tlc.3_Silent_p.V1005V|NPC1L1_uc003tla.3_Silent_p.V8V	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1005					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)	GGAACTGCTCCACCGAGGGCC	0.567000														163			45		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915400	119915400	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:119915400G>A	uc003vjj.1	+	0	1679	c.714G>A	c.(712-714)atG>atA	p.M238I		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	238					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)					CCTGCGTCATGATCTTCACAG	0.542000														44			11		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855782	12855782	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12855782C>T	uc001auj.2	+	3	1165	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	354										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAAAACCCTCATCTTGGAGG	0.537000														357			63		0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15753742	15753742	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:15753742G>A	uc002yjt.3	-	1	217	c.148C>T	c.(148-150)Cct>Tct	p.P50S	HSPA13_uc011abx.2_5'UTR	NM_006948	NP_008879	P48723	HSP13_HUMAN	Homo sapiens heat shock protein 70kDa family, member 13 (HSPA13), mRNA.	50						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CCTGTGCCAGGAAAAAACACC	0.423000														58			25		0	0	1	0	0
NCS1	23413	broad.mit.edu	37	9	132985378	132985378	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:132985378C>T	uc004bzi.2	+	5	500	c.414C>T	c.(412-414)ctC>ctT	p.L138L	NCS1_uc010myz.1_Silent_p.L120L	NM_014286	NP_055101	P62166	NCS1_HUMAN	Homo sapiens neuronal calcium sensor 1 (NCS1), transcript variant 1, mRNA.	138					negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	Golgi cisterna membrane|cell junction|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						CCGTGGAGCTCCCAGAGGAGG	0.657000														41			11		0	0	1	0	0
KLRD1	3824	broad.mit.edu	37	12	10462072	10462072	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10462072G>A	uc009zhi.3	+	1	353	c.93G>A	c.(91-93)ttG>ttA	p.L31L	KLRD1_uc001qxw.4_Silent_p.L31L|KLRD1_uc001qxx.4_Silent_p.L31L|KLRD1_uc001qxy.4_Intron|KLRD1_uc009zhh.3_Silent_p.L31L|KLRD1_uc001qxz.4_Silent_p.L31L			Q13241	KLRD1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily D, member 1 (KLRD1), transcript variant 1, mRNA.	31					cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						GAATTTTGTTGAAAAATTGTA	0.328000														39			21		0	0	1	0	0
KIAA0240	23506	broad.mit.edu	37	6	42828080	42828080	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:42828080C>T	uc003osn.1	+	10	2486	c.2335C>T	c.(2335-2337)Cta>Tta	p.L779L	KIAA0240_uc011duw.1_Silent_p.L779L|KIAA0240_uc003osp.1_Silent_p.L779L	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	779										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			ATGCCTGCTCCTAGAAGATGC	0.383000														110			52		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47681866	47681866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:47681866C>T	uc003oyz.1	+	6	1056	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	GPR115_uc003oza.1_Silent_p.F295F|GPR115_uc003ozb.1_Silent_p.F295F|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	295	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GCATAGCTTTCCCAACCTTGG	0.468000														43			22		0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013479	73013479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:73013479G>A	uc003hgg.2	+	3	1617	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	NPFFR2_uc010iig.2_Missense_Mutation_p.E289K|NPFFR2_uc003hgi.2_Missense_Mutation_p.E408K|NPFFR2_uc003hgh.2_Missense_Mutation_p.E405K	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	507					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ACCCCAACAGGAATTAGTGAT	0.348000														61			22		0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176951947	176951947	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176951947G>A	uc003mhu.3	-	5	1624	c.1535C>T	c.(1534-1536)cCt>cTt	p.P512L	FAM193B_uc003mhr.3_Missense_Mutation_p.P16L|FAM193B_uc021yiw.1_Missense_Mutation_p.P138L|FAM193B_uc003mht.3_Missense_Mutation_p.P138L|FAM193B_uc003mhv.3_Missense_Mutation_p.P138L|FAM193B_uc003mhw.3_Non-coding_Transcript	NM_001190946	NP_001177875	Q6IPW0	Q6IPW0_HUMAN	Homo sapiens family with sequence similarity 193, member B (FAM193B), transcript variant 3, mRNA.	188										kidney(1)|large_intestine(3)	4						TAGACTCTGAGGCTCAGGCTC	0.557000														18			20		0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39785360	39785360	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39785360C>T	uc003xnm.3	+	9	982	c.868C>T	c.(868-870)Cag>Tag	p.Q290*		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	290					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	ACATGCTGCTCAGTTCCTCCA	0.483000														9			3		0	0	1	0	0
ADAT3	113179	broad.mit.edu	37	19	1912832	1912832	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:1912832C>T	uc002luh.3	+	1	1010	c.738C>T	c.(736-738)ttC>ttT	p.F246F	SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.3_Intron|SCAMP4_uc002luk.3_Intron|SCAMP4_uc010dss.3_Intron|ADAT3_uc021umn.1_Silent_p.F246F	NM_138422	NP_612431	Q96EY9	ADAT3_HUMAN	Homo sapiens adenosine deaminase, tRNA-specific 3 (ADAT3), mRNA.	246					tRNA processing		hydrolase activity|zinc ion binding	p.F246F(2)		breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		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)		TCAGACCCTTCCCCGCCTGCT	0.726000														15			5		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102089764	102089764	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:102089764C>T	uc001kqx.1	-	0	480	c.97G>A	c.(97-99)Ggg>Agg	p.G33R	PKD2L1_uc009xwm.1_5'UTR	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	33					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTCAGCGTCCCGTGTGGGGAA	0.632000														73			39		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166897921	166897921	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166897921G>A	uc002udo.4	-	14	2462	c.2235C>T	c.(2233-2235)ttC>ttT	p.F745F	SCN1A_uc010fpk.3_Silent_p.F717F|SCN1A_uc021vsb.1_Silent_p.F734F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	745						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCCAGATTAAGAATATGTTGG	0.373000														126			38		0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483179	32483179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:32483179C>T	uc002hhu.3	-	0	647	c.373G>A	c.(373-375)Gac>Aac	p.D125N		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	125					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	AGATGGGGGTCCGGGATCTGC	0.597000														45			28		0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158368677	158368677	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158368677G>A	uc010pih.2	-	0	580	c.580C>T	c.(580-582)Cat>Tat	p.H194Y		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TCTTTCACATGGGTGTCAGTG	0.438000														43			15		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118020103	118020103	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:118020103G>A	uc001two.2	-	5	1201	c.1146C>T	c.(1144-1146)atC>atT	p.I382I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	411					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCTGTGCTTGATGGAGTTGC	0.592000														68			12		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18030129	18030129	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:18030129C>T	uc021trm.1	+	4	4110	c.3891C>T	c.(3889-3891)ctC>ctT	p.L1297L	MYO15A_uc021trl.1_Silent_p.L1297L	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1297	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TTGCAAATCTCGCCTTCGCCA	0.547000														91			79		0	0	1	0	0
TLX1	3195	broad.mit.edu	37	10	102893963	102893963	+	Silent	SNP	G	A	A	rs7090185	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:102893963G>A	uc001ksw.3	+	1	838	c.600G>A	c.(598-600)aaG>aaA	p.K200K	TLX1_uc021pxd.1_Silent_p.K200K	NM_005521	NP_005512	P31314	TLX1_HUMAN	Homo sapiens T-cell leukemia homeobox 1 (TLX1), transcript variant 1, mRNA.	200						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CGCCCCCCAAGAAGAAGAAGC	0.642000			T	"""TRB@, TRD@"""	T-ALL									10			3		0	0	1	0	0
IFNW1	3467	broad.mit.edu	37	9	21141378	21141378	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21141378C>T	uc003zol.1	-	0	767	c.192G>A	c.(190-192)gaG>gaA	p.E64E		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	64					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTTTTACCATCTCCTGGGGGA	0.527000														77			48		0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761857	96761857	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:96761857G>A	uc003htr.4	+	0	619	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	186					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AGGAAACGATGAGATCTGTTT	0.478000														82			33		0	0	1	0	0
FAXC	84553	broad.mit.edu	37	6	99797051	99797051	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:99797051G>A	uc003ppj.4	-	0	481	c.198C>T	c.(196-198)acC>acT	p.T66T		NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	Homo sapiens chromosome 6 open reading frame 168 (C6orf168), mRNA.	66																	TCAAGTAAAGGGTTTTCTTCC	0.597000														46			26		0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67681486	67681486	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67681486G>A	uc002etn.3	+	10	972	c.852G>A	c.(850-852)ggG>ggA	p.G284G	RLTPR_uc010cel.1_Silent_p.G284G|RLTPR_uc010vjr.2_Silent_p.G284G	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	284										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCCTCGCGGGGAACCTGCTGG	0.672000														5			8		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942180	12942180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12942180G>A	uc001aun.2	-	2	441	c.370C>T	c.(370-372)Cat>Tat	p.H124Y		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	124										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCACCCATGGGCCATAGCT	0.493000														206			86		0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233394685	233394686	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233394685_233394686GG>AA	uc002vsw.3	+	6	660_661	c.656_657GG>AA	c.(655-657)agg>aAA	p.R219K	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.R204K|CHRND_uc010zmh.2_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	219					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CGGCCGGCCAGGGTCAACGTGG	0.644000														99			18		0	0	1	0	0
C18orf25	147339	broad.mit.edu	37	18	43796350	43796350	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:43796350C>T	uc002lbw.3	+	1	883	c.504C>T	c.(502-504)gtC>gtT	p.V168V	C18orf25_uc002lbx.3_Silent_p.V168V	NM_145055	NP_659492	Q96B23	CR025_HUMAN	Homo sapiens chromosome 18 open reading frame 25 (C18orf25), transcript variant 1, mRNA.	168										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						ATGGCCGAGTCGCCAAGGTTA	0.517000														74			20		0	0	1	0	0
GK5	256356	broad.mit.edu	37	3	141944198	141944199	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:141944198_141944199GG>AA	uc003euq.2	-	0	251_252	c.99_100CC>TT	c.(97-102)tgccac>tgTTac	p.H34Y	GK5_uc010hus.2_Non-coding_Transcript|GK5_uc010hut.2_Non-coding_Transcript	NM_001039547	NP_001034636	Q6ZS86	GLPK5_HUMAN	Homo sapiens glycerol kinase 5 (putative) (GK5), transcript variant 1, mRNA.	34					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TCATAGACGTGGCAGCGGATCA	0.703000														6			5		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052332	44052332	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:44052332C>T	uc001jaw.4	-	1	1849	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	ZNF239_uc001jax.4_Missense_Mutation_p.G399E|ZNF239_uc009xmj.3_Missense_Mutation_p.G399E|ZNF239_uc009xmk.3_Missense_Mutation_p.G399E|ZNF239_uc021pph.1_Missense_Mutation_p.G399E	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGGCTTCTCTCCAGTGTGGAC	0.522000														51			25		0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	39910311	39910311	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:39910311G>A	uc001zki.3	-	10	1542	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	442										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GAAAGCTGGGGGAACACAGGT	0.378000														95			45		0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15549483	15549483	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:15549483G>A	uc004cww.3	+	10	1160	c.972G>A	c.(970-972)tcG>tcA	p.S324S	BMX_uc004cwx.4_Silent_p.S324S|BMX_uc004cwy.4_Silent_p.S324S	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	324	SH2.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TTAGAAATTCGAGCCAAGTGG	0.323000														57			33		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810601	123810601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123810601C>T	uc001pzk.1	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I92I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCTACCATTTCCTTTGGTGGA	0.468000														93			29		0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671761	45671761	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:45671761C>T	uc021qgn.1	-	0	713	c.713G>A	c.(712-714)gGc>gAc	p.G238D	CHST1_uc001mys.2_Missense_Mutation_p.G238D	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	238					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AGCCAGAATGCCGCGGGGGTC	0.652000														60			16		0	0	1	0	0
NRN1	51299	broad.mit.edu	37	6	6006945	6006945	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:6006945A>C	uc003mwu.3	-	0	689	c.38T>G	c.(37-39)aTc>aGc	p.I13S	NRN1_uc021ykx.1_5'Flank	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	Homo sapiens neuritin 1 (NRN1), mRNA.	13						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CACCGCGAGGATCAGTGAAAT	0.577000														97			42		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26343785	26343785	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26343785C>T	uc003abz.1	+	35	5989	c.5739C>T	c.(5737-5739)ctC>ctT	p.L1913L	MYO18B_uc003aca.1_Silent_p.L1794L|MYO18B_uc010guy.1_Silent_p.L1795L|MYO18B_uc010guz.1_Silent_p.L1793L|MYO18B_uc011aka.1_Silent_p.L1067L|MYO18B_uc011akb.1_Silent_p.L1426L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1913	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						ACAAGGACCTCATTGCTCAGG	0.537000														30			10		0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124219654	124219654	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:124219654C>T	uc003ypv.3	+	4	3045	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	FAM83A_uc003ypw.3_Missense_Mutation_p.P344L|FAM83A_uc003ypx.3_Missense_Mutation_p.P344L|FAM83A_uc003ypy.3_Missense_Mutation_p.P288L|FAM83A_uc003ypz.3_Missense_Mutation_p.P344L	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	344	Ser-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GGCAGCCACCCCGGTACCCGA	0.726000														22			9		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675662	62675662	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62675662G>A	uc021ooc.1	+	4	1651	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	L1TD1_uc001dae.4_Missense_Mutation_p.E406K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	406	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						GCTggaggaggaggaggaaga	0.547000														47			19		0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7909971	7909971	+	Silent	SNP	G	A	A	rs56056557		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7909971G>A	uc002gjt.2	+	3	1391	c.1317G>A	c.(1315-1317)ggG>ggA	p.G439G		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	439					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				TCCCGCGTGGGGGATCAGCAC	0.652000														12			3		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110804801	110804801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:110804801G>A	uc001vqw.4	-	50	4930	c.4808C>T	c.(4807-4809)tCc>tTc	p.S1603F		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1603	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTCCAGGCAGGAGCCGGGGGA	0.597000														37			15		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49001503	49001503	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49001503C>T	uc002pjk.3	-	11	2910	c.2910G>A	c.(2908-2910)gaG>gaA	p.E970E		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCGCCGCCTTCTCCTCGATGC	0.642000														94			8		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72286851	72286851	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72286851G>A	uc002atl.4	-	9	2019	c.1546C>T	c.(1546-1548)Cat>Tat	p.H516Y	MYO9A_uc010biq.3_Missense_Mutation_p.H111Y|MYO9A_uc002ato.3_Missense_Mutation_p.H516Y|MYO9A_uc002atn.1_Missense_Mutation_p.H497Y	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	516	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAAGTGCATGATTAATTCGA	0.338000														123			52		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176445	57176445	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57176445G>A	uc010ygn.2	-	1	349	c.122C>T	c.(121-123)gCc>gTc	p.A41V		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TCCCTTGCAGGCCACGGCCTC	0.597000														69			16		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36091374	36091374	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:36091374G>A	uc004ddk.1	+	3	495	c.309G>A	c.(307-309)aaG>aaA	p.K103K		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	103						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						AAGGAACAAAGGCACACTACT	0.408000														50			51		0	0	1	0	0
CIR1	9541	broad.mit.edu	37	2	175213483	175213483	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:175213483G>A	uc002uim.3	-	9	1188	c.1095C>T	c.(1093-1095)agC>agT	p.S365S	CIR1_uc002uin.3_Silent_p.S239S	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	Homo sapiens corepressor interacting with RBPJ, 1 (CIR1), mRNA.	365	Lys/Ser-rich.				RNA splicing|mRNA processing|negative regulation of transcription, DNA-dependent	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						TCTTCTCTGGGCTATGTTTAT	0.512000														127			46		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36149243	36149243	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:36149243G>A	uc003gsq.2	-	17	3464	c.3126C>T	c.(3124-3126)tcC>tcT	p.S1042S		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1042	PH 4.				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						AATGCAAGCTGGATTTGTCCA	0.408000														64			19		0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107848059	107848059	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107848059G>A	uc022aka.1	-	9	1226	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S	NRCAM_uc011kmk.2_Missense_Mutation_p.P374S|NRCAM_uc003vfd.3_Missense_Mutation_p.P355S|NRCAM_uc003vfe.3_Missense_Mutation_p.P355S|NRCAM_uc003vfc.3_Missense_Mutation_p.P368S	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	374	Ig-like 4.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCCTCTCCTGGGGACAGCACA	0.438000														53			4		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180579	124180579	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124180579G>A	uc010sag.2	-	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	28					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)		GGAACAGGAGGAAGAGGGGCA	0.473000														125			30		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110452971	110452971	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110452971T>C	uc003yne.3	+	32	4093	c.3989T>C	c.(3988-3990)tTa>tCa	p.L1330S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1330	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			CAGTATGTTTTAGAAGTGACC	0.363000										HNSCC(38;0.096)				103			28		0	0	1	0	0
SLC35C2	51006	broad.mit.edu	37	20	44983754	44983754	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44983754G>A	uc010zxp.2	-	6	715	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	SLC35C2_uc002xro.3_Missense_Mutation_p.R179C|SLC35C2_uc002xrp.3_Missense_Mutation_p.R158C|SLC35C2_uc002xrq.3_Missense_Mutation_p.R179C|SLC35C2_uc002xrr.3_Missense_Mutation_p.R179C|SLC35C2_uc010zxn.2_Missense_Mutation_p.R44C|SLC35C2_uc010zxo.2_Missense_Mutation_p.R65C	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	179					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				AGGGTCCAGCGAATGCCACCG	0.622000														94			33		0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420578	11420578	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:11420578C>T	uc001qzs.3	-	2	643	c.605G>A	c.(604-606)gGa>gAa	p.G202E	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	202	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCTGGCTTTCCCGGACGAGG	0.627000														363			58		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590485	156590485	+	Missense_Mutation	SNP	C	T	T	rs148999608		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156590485C>T	uc003lwn.3	-	1	891	c.791G>A	c.(790-792)aGg>aAg	p.R264K		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	264	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCTGCTGTCCTTGCTGCTCC	0.587000														89			42		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563857	176563857	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176563857G>A	uc001gkz.3	+	2	2281	c.1117G>A	c.(1117-1119)Gga>Aga	p.G373R	PAPPA2_uc001gky.1_Missense_Mutation_p.G373R|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	373					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACTTACGATGGACGGCACAT	0.572000														57			15		0	0	1	0	0
WFDC3	140686	broad.mit.edu	37	20	44405749	44405749	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44405749C>T	uc002xpf.1	-	4	542	c.458G>A	c.(457-459)gGc>gAc	p.G153D	WFDC3_uc002xpj.1_Non-coding_Transcript|WFDC3_uc002xph.1_Intron|WFDC3_uc010ghh.1_Intron|RNU6ATAC_uc021wel.1_5'Flank	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN	Homo sapiens WAP four-disulfide core domain 3 (WFDC3), mRNA.	153	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GCGGCCACAGCCGGTGCTGCA	0.557000														33			19		0	0	1	0	0
TGFB2	7042	broad.mit.edu	37	1	218609363	218609363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:218609363C>T	uc001hlm.3	+	4	2174	c.806C>T	c.(805-807)tCc>tTc	p.S269F	TGFB2_uc001hln.3_Missense_Mutation_p.S297F|TGFB2_uc010pue.2_Intron|TGFB2_uc001hlo.3_Intron	NM_003238	NP_003229	P61812	TGFB2_HUMAN	Homo sapiens transforming growth factor, beta 2 (TGFB2), transcript variant 2, mRNA.	269					SMAD protein import into nucleus|activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		ACTATAAAGTCCACTAGGAAA	0.423000														77			39		0	0	1	0	0
GPR25	2848	broad.mit.edu	37	1	200842325	200842325	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:200842325C>T	uc001gvn.1	+	0	160	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L		NM_005298	NP_005289	O00155	GPR25_HUMAN	Homo sapiens G protein-coupled receptor 25 (GPR25), mRNA.	54						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CGCCGTGGGCCTGCTGGGCAA	0.721000														19			4		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96030073	96030073	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:96030073G>A	uc004ati.1	+	15	3742	c.3742G>A	c.(3742-3744)Gag>Aag	p.E1248K	WNK2_uc011lud.1_Missense_Mutation_p.E1248K|WNK2_uc004atj.3_Missense_Mutation_p.E1248K|WNK2_uc004atk.3_Missense_Mutation_p.E885K	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1248					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						AACGTTCATCGAGCAGATGAA	0.602000														18			4		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115161063	115161063	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:115161063C>T	uc001efd.1	-	7	1970	c.1268G>A	c.(1267-1269)gGg>gAg	p.G423E	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.G366E	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	423										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		CTTCTTCTTCCCTCTTTTAGA	0.343000														72			20		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52498066	52498066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:52498066C>T	uc010bff.3	-	36	4646	c.4484G>A	c.(4483-4485)cGa>cAa	p.R1495Q	MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1495	Dilute.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ATGATATATTCGTATAGCCAC	0.303000														61			17		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71482455	71482455	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:71482455C>T	uc003kbw.4	+	3	625	c.384C>T	c.(382-384)atC>atT	p.I128I	MAP1B_uc010iyw.1_Silent_p.I128I|MAP1B_uc010iyx.1_Silent_p.I2I|MAP1B_uc010iyy.1_Silent_p.I2I	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	128						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCTTAATGATCACTGATGCTG	0.557000														116			37		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197073649	197073649	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197073649G>A	uc001gtu.3	-	17	4989	c.4732C>T	c.(4732-4734)Cga>Tga	p.R1578*	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1578					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTAAAAATCGAACTCTGTCT	0.338000														72			19		0	0	1	0	0
SLC43A1	8501	broad.mit.edu	37	11	57256424	57256424	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57256424G>A	uc001nkk.3	-	12	1492	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	SLC43A1_uc001nkl.3_Silent_p.F458F	NM_001198810	NP_001185739	O75387	LAT3_HUMAN	Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA.	458					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CTGAGTGGAAGAAACCTCGAA	0.512000														65			13		0	0	1	0	0
DPYSL3	1809	broad.mit.edu	37	5	146777300	146777300	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:146777300C>T	uc003loo.3	-	11	1930	c.1732G>A	c.(1732-1734)Ggg>Agg	p.G578R	DPYSL3_uc003lon.1_Missense_Mutation_p.G464R	NM_001197294	NP_001184223	Q14195	DPYL3_HUMAN	Homo sapiens dihydropyrimidinase-like 3 (DPYSL3), transcript variant 1, mRNA.	464					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCAGCCCCCTGGGTCACG	0.562000														94			31		0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47091816	47091816	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:47091816A>T	uc002ldv.3	+	1	479	c.227A>T	c.(226-228)gAc>gTc	p.D76V	LIPG_uc002ldu.1_Missense_Mutation_p.D76V|LIPG_uc010xdh.2_Missense_Mutation_p.D76V	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	76					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CCCTTAGAAGACTGCAGTTTC	0.517000														60			18		0	0	1	0	0
RILP	83547	broad.mit.edu	37	17	1549859	1549859	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:1549859G>A	uc002ftd.3	-	7	1377	c.1083C>T	c.(1081-1083)agC>agT	p.S361S	SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	NM_031430	NP_113618	Q96NA2	RILP_HUMAN	Homo sapiens Rab interacting lysosomal protein (RILP), mRNA.	361					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGGGTGCAGGGCTGCTGGTCT	0.592000														61			58		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57569316	57569316	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57569316C>T	uc001snd.3	+	22	4087	c.3621C>T	c.(3619-3621)tcC>tcT	p.S1207S		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1207	EGF-like 5.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTGTGTGTTCCTGCCCTCTGG	0.582000											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			23		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22157590	22157590	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:22157590G>A	uc010vbq.2	+	26	2860	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc002dkg.4_5'UTR|VWA3A_uc010bxe.1_5'UTR	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	922						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GACGCCCAGGGAGATGGAGGT	0.587000														24			3		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647772	51647772	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51647772G>A	uc002pvv.1	+	1	612	c.543G>A	c.(541-543)atG>atA	p.M181I	SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	181	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CGCCCCCTATGATCTCCTGGA	0.652000														165			45		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981797	61981797	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61981797G>A	uc002yes.2	-	4	1144	c.966C>T	c.(964-966)gtC>gtT	p.V322V	CHRNA4_uc002yet.1_Silent_p.V146V|CHRNA4_uc010gke.1_Silent_p.V251V|CHRNA4_uc002yev.1_Silent_p.V146V|CHRNA4_uc010gkf.1_Silent_p.V146V	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	322					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.I321I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	AGACCGTGATGACGATGGACA	0.607000														82			35		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008206	41008206	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41008206C>T	uc002ony.3	+	8	1155	c.1069C>T	c.(1069-1071)Ctg>Ttg	p.L357L	SPTBN4_uc002onx.3_Silent_p.L357L|SPTBN4_uc002onz.3_Silent_p.L357L	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	357					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTATTGCACGCTGGAGAAGCC	0.607000														49			24		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602760	96602760	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96602760C>T	uc010qnz.2	+	6	1128	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	CYP2C19_uc010qny.2_Silent_p.F354F	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	376					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ACGTTAAATTCAGAAACTACC	0.473000														138			37		0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707846	50707846	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:50707846G>A	uc002egk.2	-	3	595	c.422C>T	c.(421-423)cCc>cTc	p.P141L	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	141	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GTGCTTCCTGGGAAACTCCAC	0.602000														58			7		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108869898	108869898	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:108869898G>A	uc010ywo.2	+	3	399	c.399_splice	c.e3+1	p.K133_splice		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	133						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAAACTGCAAGGTATAAAGAG	0.338000														54			24		0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418468	55418468	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55418468C>T	uc001nhs.1	+	0	89	c.89C>T	c.(88-90)tCt>tTt	p.S30F		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	30					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)				GTGGTGTTTTCTTTCTTCTAC	0.388000														117			28		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211624	38211624	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:38211624C>T	uc010abx.3	-	10	2600	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K	TRPC4_uc010abv.3_Missense_Mutation_p.E364K|TRPC4_uc001uwt.3_Missense_Mutation_p.E784K|TRPC4_uc001uws.3_Missense_Mutation_p.E784K|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Missense_Mutation_p.E611K|TRPC4_uc010aby.3_Missense_Mutation_p.E719K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	784	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTATTACCTTCGCTATCACTC	0.413000														92			39		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23816229	23816229	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:23816229C>T	uc003gqs.3	-	8	998	c.878_splice	c.e8-1	p.G293_splice	PPARGC1A_uc003gqt.3_Splice_Site|PPARGC1A_uc011bxp.1_Intron|PPARGC1A_uc010ier.1_Intron	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	293	Interaction with PPARG.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGAGTTAGGCCTAAGGCAAAA	0.393000														39			17		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25834646	25834646	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:25834646G>A	uc003gru.4	-	4	1221	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	357						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATATCCAGTCGAAACCACTCC	0.393000														71			29		0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5626743	5626743	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5626743G>A	uc001mbf.3	+	3	1043	c.780G>A	c.(778-780)gaG>gaA	p.E260E	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Silent_p.E206E|TRIM6-TRIM34_uc010qzj.2_Silent_p.E57E|TRIM6-TRIM34_uc001mbc.2_Silent_p.E232E|TRIM6-TRIM34_uc001mbe.3_Silent_p.E57E|TRIM6-TRIM34_uc001mbd.3_Silent_p.E260E|TRIM6-TRIM34_uc010qzk.2_Silent_p.E57E|TRIM6-TRIM34_uc010qzl.2_Silent_p.E57E|TRIM6-TRIM34_uc009yep.1_Silent_p.E57E	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	260						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CGCTGCGAGAGCTCATCTCGG	0.522000											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		48			13		0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756558	248756558	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248756558G>A	uc010pzn.2	-	0	512	c.512C>T	c.(511-513)tCc>tTc	p.S171F		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			AATCTCATGGGATCTGCAGAA	0.507000														117			28		0	0	1	0	0
TMEM207	131920	broad.mit.edu	37	3	190158179	190158179	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:190158179C>T	uc003fsj.2	-	4	226	c.159_splice	c.e4-1	p.W53_splice		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	Homo sapiens transmembrane protein 207 (TMEM207), mRNA.	53						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		CAGGAGGATCCTGACTCCAAA	0.517000														25			7		0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38281580	38281580	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:38281580C>T	uc001wuj.3	+	7	923	c.821C>T	c.(820-822)aCc>aTc	p.T274I	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.T177I|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		AAACTAAATACCTTCCTTAAT	0.368000														82			31		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102477362	102477362	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102477362G>A	uc001phc.3	-	5	870	c.857C>T	c.(856-858)cCc>cTc	p.P286L		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	286					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CTTGTGATGGGGGGCATGGGG	0.527000														61			22		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35949969	35949969	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:35949969G>A	uc003olm.3	-	7	1065	c.954C>T	c.(952-954)ttC>ttT	p.F318F	SLC26A8_uc003oll.3_Silent_p.F213F|SLC26A8_uc003oln.3_Silent_p.F318F	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	318					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						CAATCACAGTGAAGCCAATAA	0.418000														86			37		0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6022607	6022607	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:6022607C>T	uc002wmo.2	-	4	1508	c.1284G>A	c.(1282-1284)ggG>ggA	p.G428G		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	428						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AGGGGGCAGTCCCCTCCCGTG	0.657000														41			20		0	0	1	0	0
TNIP1	10318	broad.mit.edu	37	5	150436378	150436378	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:150436378G>A	uc003lti.3	-	5	817	c.576C>T	c.(574-576)aaC>aaT	p.N192N	TNIP1_uc010jhq.2_Silent_p.N139N|TNIP1_uc010jho.2_Non-coding_Transcript|TNIP1_uc010jhp.2_Silent_p.N139N|TNIP1_uc010jhl.3_Non-coding_Transcript|TNIP1_uc010jhn.3_Silent_p.N192N|TNIP1_uc010jhm.3_Silent_p.N192N|TNIP1_uc010jhr.2_Silent_p.N192N|TNIP1_uc011dco.2_Silent_p.N192N|TNIP1_uc003ltg.3_Silent_p.N139N|TNIP1_uc003ltk.3_Silent_p.N192N|TNIP1_uc003ltj.3_Silent_p.N192N|TNIP1_uc021ygb.1_Silent_p.N192N	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.	192	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGCCAGTCGGTTGAACTCCA	0.667000														48			6		0	0	1	0	0
DYX1C1	161582	broad.mit.edu	37	15	55727241	55727241	+	Silent	SNP	C	T	T	rs138026922		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:55727241C>T	uc002adc.3	-	7	1277	c.909G>A	c.(907-909)acG>acA	p.T303T	CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Intron|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Silent_p.T303T|DYX1C1_uc002add.3_Silent_p.T303T	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.	303					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		AATAGTTTTCCGTTGCAAACA	0.318000														62			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048826	9048826	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9048826G>A	uc002mkp.3	-	4	33009	c.32805C>T	c.(32803-32805)acC>acT	p.T10935T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10937	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						TGACCAGAGAGGTCACCACTC	0.498000														89			45		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7769021	7769021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:7769021G>A	uc001ijs.3	+	9	1255	c.1093G>A	c.(1093-1095)Gct>Act	p.A365T		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	365	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTAATTTCAGCTACAAAAAC	0.423000														65			21		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33152024	33152024	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33152024G>A	uc003ocx.1	-	7	1245	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	339	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCCCTTCAGGGGGGTCTGTGC	0.612000														92			37		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175087870	175087870	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175087870G>A	uc001gkl.1	+	10	2673	c.2560G>A	c.(2560-2562)Ggc>Agc	p.G854S		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	854	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.T853M(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGTCCTGACGGGCCTGAGGCC	0.607000														91			28		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34182085	34182085	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34182085G>A	uc001bxm.1	-	19	3195	c.3018C>T	c.(3016-3018)ttC>ttT	p.F1006F	CSMD2_uc001bxn.1_Silent_p.F966F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	966	CUB 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAAGGTGTGGAAAGTGAAGA	0.542000														17			8		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38927686	38927686	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38927686C>T	uc021wvy.1	-	15	3078	c.2879G>A	c.(2878-2880)aGa>aAa	p.R960K	SCN11A_uc010hhn.1_Intron	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	960					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACTTTGAACTCTCTGGCTCGT	0.448000														61			21		0	0	1	0	0
KBTBD13	390594	broad.mit.edu	37	15	65370117	65370117	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65370117G>A	uc010uis.2	+	0	964	c.964G>A	c.(964-966)Gag>Aag	p.E322K	RASL12_uc010uir.1_5'Flank	NM_001101362	NP_001094832	C9JR72	KBTBD_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 13 (KBTBD13), mRNA.	322						cytoplasm				lung(1)|prostate(1)|skin(1)	3						CGCCGTGGTGGAGTACGCAGT	0.731000														10			8		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436215	248436215	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248436215C>T	uc010pzi.2	-	0	902	c.902G>A	c.(901-903)cGg>cAg	p.R301Q		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			CCCCAGCCACCGTTTCAGGGC	0.438000														207			100		0	0	1	0	0
CHKB	1120	broad.mit.edu	37	22	51018247	51018247	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:51018247G>A	uc003bmv.3	-	8	1158	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	CPT1B_uc003bmk.4_5'Flank|CPT1B_uc003bmm.3_5'Flank|CPT1B_uc003bml.3_5'Flank|CPT1B_uc003bmo.3_5'Flank|CPT1B_uc011asa.2_5'Flank|CPT1B_uc003bmn.3_5'Flank|CPT1B_uc011asb.2_5'Flank|CPT1B_uc003bmp.3_5'Flank|CPT1B_uc021wsc.1_Non-coding_Transcript|CHKB_uc003bmt.2_Missense_Mutation_p.R105C|CHKB_uc003bmu.3_Missense_Mutation_p.R193C	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	Homo sapiens choline kinase beta (CHKB), mRNA.	314					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	AGGTAATGACGAATAAAATGC	0.488000														119			58		0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71483463	71483463	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71483463G>A	uc002faf.3	-	5	1279	c.465C>T	c.(463-465)ctC>ctT	p.L155L	ZNF23_uc002fah.3_Silent_p.L155L|ZNF23_uc002fad.3_Silent_p.L97L|ZNF23_uc010vmf.2_Silent_p.L97L|ZNF23_uc002fag.3_Silent_p.L97L|ZNF23_uc002fai.3_Silent_p.L194L	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		CATGCTTCACGAGTTTTGTAT	0.393000														91			27		0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168278043	168278043	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:168278043C>T	uc001gfl.3	+	6	1031	c.980C>T	c.(979-981)tCc>tTc	p.S327F	TBX19_uc001gfj.4_Missense_Mutation_p.S195F|TBX19_uc001gfm.3_Missense_Mutation_p.S30F	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	327					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					AGCTGGACTTCCTTATCCTCC	0.473000														115			35		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73072163	73072164	+	RNA	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73072163_73072164GG>AA	uc004ebm.1	-	0		c.425_426CC>TT								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AGGTATCCACGGCCCCGTTGGG	0.436000														4			8		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51752037	51752037	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51752037G>A	uc001ryk.2	-	7	1602	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Silent_p.F459F|GALNT6_uc001ryj.1_Silent_p.F24F	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	459					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AAATGTCACCGAAGGATTTCT	0.473000														117			44		0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	354414	354414	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:354414G>A	uc002cgp.2	-	4	1533	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.R382C	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	382	Interaction with GSK3B (By similarity).				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.?(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGCTCCACGCGGACCTCCTTC	0.632000														36			7		0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17138385	17138385	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:17138385G>A	uc011aby.1	+	2	410	c.193G>A	c.(193-195)Gag>Aag	p.E65K	USP25_uc002yjz.1_Missense_Mutation_p.E65K|USP25_uc010gla.1_Missense_Mutation_p.E65K|USP25_uc002yjy.1_Missense_Mutation_p.E65K	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	65					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CCCTCAGCAGGAGGAGACAAC	0.398000														92			7		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97081904	97081904	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:97081904G>A	uc004aup.1	-	5	1497	c.1476C>T	c.(1474-1476)acC>acT	p.T492T		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	492										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				CCTGGGCAAGGGTGAGTCCTT	0.612000														111			66		0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80631636	80631636	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:80631636G>A	uc003khl.4	-	11	1268	c.1213C>T	c.(1213-1215)Cgt>Tgt	p.R405C	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	405	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	p.R405H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GACAAGAGACGATAAGCCAAA	0.348000														102			32		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76756929	76756929	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:76756929G>A	uc002lmt.3	+	2	3510	c.3510G>A	c.(3508-3510)gcG>gcA	p.A1170A	SALL3_uc010dra.3_Silent_p.A705A	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACGCCCCCGCGAGACGCGGCC	0.627000														24			10		0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962038	10962038	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10962038G>A	uc001qyx.3	-	0	730	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	213					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCATGCAGTCGAATCTGCTTG	0.488000														51			19		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139601552	139601552	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:139601552G>A	uc003yvd.3	-	64	5272	c.4825C>T	c.(4825-4827)Cag>Tag	p.Q1609*	COL22A1_uc011ljo.2_Nonsense_Mutation_p.Q889*	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1609					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TAGGCACACTGGGAAGGGTCA	0.602000										HNSCC(7;0.00092)				38			12		0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133779647	133779647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:133779647G>A	uc004bzz.3	-	6	1435	c.1190C>T	c.(1189-1191)tCa>tTa	p.S397L	FIBCD1_uc011mcc.2_Missense_Mutation_p.S397L	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	397	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GTTGTTCTCTGAATGGTCGCT	0.652000														99			27		0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31457512	31457512	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:31457512G>A	uc002rnu.3	+	0	633	c.25G>A	c.(25-27)Gac>Aac	p.D9N	EHD3_uc010ymt.2_Missense_Mutation_p.D9N	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	9					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GGGTACGGACGACCGCCGGAG	0.642000														61			25		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3670728	3670728	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3670728G>A	uc002wja.3	-	17	4775	c.4775C>T	c.(4774-4776)tCc>tTc	p.S1592F	SIGLEC1_uc002wiz.4_Missense_Mutation_p.S1592F|SIGLEC1_uc002wjb.1_Missense_Mutation_p.S231F	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1592	Ig-like C2-type 16.				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						GGCATTGGGGGAAGCCAGGAC	0.632000														15			5		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769146	57769146	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:57769146G>A	uc002yan.3	+	0	3072	c.3072G>A	c.(3070-3072)ggG>ggA	p.G1024G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1024						intracellular	nucleic acid binding|zinc ion binding	p.G1023G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGTTGGGGGGGGACAAGGGGG	0.682000														17			10		0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4245738	4245738	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:4245738C>T	uc002cvz.4	-	4	439	c.426G>A	c.(424-426)aaG>aaA	p.K142K	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	601	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TGGTTTTCAGCTTAGGCCCAT	0.542000														29			5		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31624191	31624191	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:31624191G>A	uc002rnv.1	-	3	280	c.201C>T	c.(199-201)caC>caT	p.H67H		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	67	2Fe-2S ferredoxin-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGGCAGAAAAGTGGCTAGAAC	0.507000														46			5		0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3827613	3827613	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3827613C>T	uc002lyw.2	-	5	903	c.891G>A	c.(889-891)aaG>aaA	p.K297K	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	297						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CCGCCTCCTTCTTTCTGTGCT	0.692000														5			3		0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479481	156479481	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156479481C>T	uc010jij.1	-	3	749	c.564G>A	c.(562-564)acG>acA	p.T188T	HAVCR1_uc011ddl.1_Silent_p.T19T|HAVCR1_uc003lwi.2_Silent_p.T188T|HAVCR1_uc021ygj.1_Silent_p.T188T|HAVCR1_uc021ygk.1_Silent_p.T19T|HAVCR1_uc011ddm.2_Silent_p.T188T	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	183	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGAACGCTCGTTGTCGTTG	0.473000														448			171		0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	328088	328088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:328088C>T	uc003zgf.2	+	8	1073	c.961C>T	c.(961-963)Cct>Tct	p.P321S	DOCK8_uc011lls.1_Missense_Mutation_p.P321S|DOCK8_uc022bcu.1_Missense_Mutation_p.P253S|DOCK8_uc010mgv.3_Missense_Mutation_p.P253S|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc003zgg.3_Missense_Mutation_p.P253S|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	321					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGCTCACACGCCTTCAGTGGC	0.458000														59			7		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136570068	136570068	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136570068G>A	uc002tuu.1	-	6	2177	c.2166C>T	c.(2164-2166)tcC>tcT	p.S722S		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	722	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.S721*(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAATCCAAGAGGATGAGGTCT	0.522000														70			36		0	0	1	0	0
CDT1	81620	broad.mit.edu	37	16	88873061	88873061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:88873061C>T	uc002flu.3	+	6	1155	c.1101C>T	c.(1099-1101)gcC>gcT	p.A367A		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	Homo sapiens chromatin licensing and DNA replication factor 1 (CDT1), mRNA.	367					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		TGGCCCGGGCCCGCAACCTGA	0.667000														17			5		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71977812	71977812	+	Silent	SNP	G	A	A	rs141274411		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:71977812G>A	uc001swl.3	+	17	2070	c.2022G>A	c.(2020-2022)acG>acA	p.T674T	LGR5_uc001swm.3_Silent_p.T650T|LGR5_uc021rar.1_Silent_p.T602T|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	674						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AATTTGAAACGAAAGCTCCAT	0.478000														168			42		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584281	88584281	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:88584281G>A	uc003hqv.3	+	5	1455	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	DMP1_uc003hqw.3_Missense_Mutation_p.E435K	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	451					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CCATTCTGAGGAAGACGACAG	0.532000														59			7		0	0	1	0	0
BC024008	0	broad.mit.edu	37	12	98126997	98126997	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:98126997C>T	uc001tfc.1	-	4		c.1060G>A			BC024008_uc001tfd.3_Non-coding_Transcript					Homo sapiens cDNA FLJ25775 fis, clone TST06543.																		CCTTGAATATCTTCCACTGCA	0.468000														17			12		0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43318761	43318761	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:43318761G>A	uc002iin.3	+	13	1545	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	FMNL1_uc002iiq.3_Missense_Mutation_p.E27K|FMNL1_uc010dag.3_5'Flank|FMNL1_uc021tyj.1_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	449	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCGCTTCAGCGAATCGACCGC	0.687000														4			3		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51649346	51649346	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51649346C>T	uc002pvv.1	+	3	1064	c.995C>T	c.(994-996)tCc>tTc	p.S332F	SIGLEC7_uc002pvw.1_Missense_Mutation_p.S239F|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	332	Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CAGCACGTTTCCCTGAACCTC	0.607000														61			25		0	0	1	0	0
DGCR6	8214	broad.mit.edu	37	22	18897764	18897764	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:18897764G>A	uc002zoh.4	+	2	503	c.351G>A	c.(349-351)gcG>gcA	p.A117A	DGCR6_uc002zog.3_Non-coding_Transcript|DGCR6_uc002zoi.4_Non-coding_Transcript	NM_005675	NP_005666	Q14129	DGCR6_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 6 (DGCR6), mRNA.	117			A -> V (in dbSNP:rs16983281).		cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						TGCTTCAGGCGGCTCAGCAGC	0.672000														15			4		0	0	1	0	0
FAM105B	90268	broad.mit.edu	37	5	14693021	14693021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:14693021C>T	uc003jfk.3	+	6	1075	c.923C>T	c.(922-924)tCc>tTc	p.S308F		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	Homo sapiens family with sequence similarity 105, member B (FAM105B), mRNA.	308										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					TACCGGCTCTCCAAGTACAAC	0.522000														90			35		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39880361	39880361	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:39880361G>A	uc001zkh.3	+	8	1592	c.1413G>A	c.(1411-1413)ggG>ggA	p.G471G	THBS1_uc010bbi.3_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	471	TSP type-1 2.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	p.N470N(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AGATGAACGGGAAACCCTGTG	0.597000														93			10		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135482015	135482015	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:135482015G>A	uc004ezu.1	+	20	8606	c.8315G>A	c.(8314-8316)cGa>cAa	p.R2772Q	GPR112_uc010nsb.1_Missense_Mutation_p.R2567Q	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2772					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGCAAACTTCGAAAAGATTAT	0.318000														22			26		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94083510	94083510	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94083510T>G	uc001ybv.1	+	25	3702	c.3619T>G	c.(3619-3621)Tta>Gta	p.L1207V	UNC79_uc001ybs.1_Missense_Mutation_p.L1185V	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1362						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						CCTTCTCCCCTTAGTGGTTCA	0.433000														122			26		0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73731423	73731423	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:73731423G>A	uc010ttx.2	+	20	3277	c.3114G>A	c.(3112-3114)caG>caA	p.Q1038Q	PAPLN_uc001xnw.4_Silent_p.Q1011Q|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Silent_p.Q1022Q|PAPLN_uc010arm.3_Silent_p.Q237Q|PAPLN_uc010arn.3_Silent_p.Q238Q	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	1038	Ig-like C2-type 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CACACCCACAGCCTGCAAACA	0.657000														113			49		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540736	94540736	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94540736G>A	uc003unp.3	+	1	1593	c.1311G>A	c.(1309-1311)atG>atA	p.M437I	PPP1R9A_uc010lfj.3_Missense_Mutation_p.M437I|PPP1R9A_uc011kif.2_Missense_Mutation_p.M437I|PPP1R9A_uc003unq.3_Missense_Mutation_p.M437I|PPP1R9A_uc011kig.2_Missense_Mutation_p.M437I	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	437	Interacts with protein phosphatase 1 (By similarity).					cell junction|synapse|synaptosome	actin binding	p.D436D(1)		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)			AGCCTGATATGGAGTACTCGG	0.418000										HNSCC(28;0.073)				39			16		0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48654501	48654502	+	Silent	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:48654501_48654502GG>AA	uc002pia.1	-	6	681_682	c.561_562CC>TT	c.(559-564)ccccta>ccTTta	p.187_188PL>PL	LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Intron|LIG1_uc010xzg.1_Silent_p.156_157PL>PL|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	187					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GAGGTCTTTAGGGGCTTGGGAG	0.554000								Nucleotide excision repair (NER)						158			40		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363912	22363912	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22363912C>T	uc002nqs.1	-	2	925	c.607G>A	c.(607-609)Ggc>Agc	p.G203S		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	203					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)				AAGGCTTTGCCACATTCTTCA	0.358000														84			26		0	0	1	0	0
CLNK	116449	broad.mit.edu	37	4	10515185	10515185	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:10515185C>T	uc003gmo.4	-	15	946	c.809G>A	c.(808-810)aGa>aAa	p.R270K		NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.	270					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AGGCTGGCATCTCTGAGGAGA	0.493000														16			6		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529496	5529496	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5529496C>T	uc021qcw.1	-	0	1293	c.1293G>A	c.(1291-1293)ggG>ggA	p.G431G	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Silent_p.G431G	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	431										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGAGCTTTTCCCTGCACCAT	0.517000														81			41		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059153	152059153	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152059153T>C	uc001ezo.1	-	2	1070	c.1005A>G	c.(1003-1005)gaA>gaG	p.E335E		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	335							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)			CCTTTCCTGGTTCTTGAGTGT	0.448000														310			79		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686794	100686795	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100686794_100686795AC>TT	uc003uxp.1	+	2	12150_12151	c.12097_12098AC>TT	c.(12097-12099)aca>TTa	p.T4033L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4033						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCAACCAGTACACCTCACACC	0.525000														173			62		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81212437	81212437	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:81212437C>T	uc002bfw.1	+	13	2060	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	KIAA1199_uc010unn.1_Silent_p.I600I	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	600										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCCTGCAGATCAAGGACGTTG	0.488000														64			63		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36332717	36332717	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36332717G>A	uc002oby.3	-	19	2871	c.2715C>T	c.(2713-2715)acC>acT	p.T905T	NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	905	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGTTGGCAATGGTCAGGAGGC	0.557000														21			9		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767539	57767539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:57767539C>T	uc002yan.3	+	0	1465	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	489						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCACTCCGTCCCCACTCAGCT	0.701000														58			19		0	0	1	0	0
LOC341056	341056	broad.mit.edu	37	11	122888917	122888917	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:122888917G>A	uc010rzt.2	+	0		c.644G>A								Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA.																		AGTAGAAGATGGGCCTGATAC	0.433000														110			36		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234622025	234622025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234622025G>A	uc002vuw.3	+	0	388	c.388G>A	c.(388-390)Gag>Aag	p.E130K	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Missense_Mutation_p.E130K	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	129					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GTCTTGTGTGGAGCTACTGCA	0.438000														221			58		0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96294492	96294492	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:96294492C>T	uc004atw.3	+	9	1815	c.1790C>T	c.(1789-1791)cCg>cTg	p.P597L	FAM120A_uc004atx.3_Missense_Mutation_p.P379L|FAM120A_uc004aty.3_Missense_Mutation_p.P378L|FAM120A_uc004atz.3_Missense_Mutation_p.P246L|FAM120A_uc010mrg.3_5'UTR	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	597						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GACCTGCCTCCGGCCGCTCTG	0.418000														171			47		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21896403	21896403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21896403G>A	uc001war.2	-	2	1291	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	CHD8_uc001was.2_Missense_Mutation_p.S130F	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	409	Gln-rich.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGCCCCTTGGGAAGAGCCAGC	0.473000														95			11		0	0	1	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16734107	16734107	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrY:16734107C>T	uc011nas.1	+	1	287	c.108C>T	c.(106-108)ttC>ttT	p.F36F	NLGN4Y_uc004fte.2_Intron|NLGN4Y_uc004ftg.2_Silent_p.F36F|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Silent_p.F36F|NLGN4Y_uc004fti.4_Silent_p.F36F	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	36					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CCATCAAGTTCACCCTCATTG	0.468000														31			30		0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95500992	95500992	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:95500992C>T	uc003ygo.2	-	23	5452	c.5381G>A	c.(5380-5382)gGa>gAa	p.G1794E	KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1794					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AACAAACTTTCCTCTTGAGCC	0.498000														174			67		0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149903251	149903251	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:149903251G>A	uc001etl.4	-	12	1442	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	MTMR11_uc001etm.2_Silent_p.A325A|MTMR11_uc010pbm.1_Intron|MTMR11_uc010pbn.1_Missense_Mutation_p.P224S	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	397	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ACAGTGTTCGGGCTTCGGGGG	0.567000														79			12		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21805064	21805064	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:21805064C>T	uc003svc.3	+	55	9011	c.8980C>T	c.(8980-8982)Cca>Tca	p.P2994S		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2994	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGTTTCTCTCCAGTTGGTCG	0.502000									Kartagener syndrome					106			49		0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14284465	14284465	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:14284465G>A	uc001mle.3	+	15	2469	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	735					cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	p.A733D(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGGGAGGCCCGAGAGAGCCGG	0.592000														39			16		0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15780251	15780251	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:15780251G>A	uc003gol.1	+	0	321	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	CD38_uc021xmk.1_Non-coding_Transcript	NM_001775	NP_001766	P28907	CD38_HUMAN	Homo sapiens CD38 molecule (CD38), mRNA.	72					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	NAD+ nucleosidase activity|binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						CAAGTACACTGAAATTCATCC	0.692000														37			22		0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29752501	29752501	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:29752501G>A	uc003afj.3	-	5	817	c.630C>T	c.(628-630)gcC>gcT	p.A210A	AP1B1_uc003afl.3_Silent_p.A210A|AP1B1_uc003afi.3_Silent_p.A210A	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	210					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACTCATTGAGGGCTGTCAGCA	0.602000														35			20		0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131231365	131231365	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:131231365C>T	uc004ewn.3	-	3	391	c.213G>A	c.(211-213)aaG>aaA	p.K71K	FRMD7_uc011muy.2_Intron	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	71	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AAACAATCTCCTTAGGATCTT	0.388000														106			18		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79747293	79747293	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:79747293G>A	uc001sys.3	+	9	1493	c.822G>A	c.(820-822)ttG>ttA	p.L274L	SYT1_uc001syt.3_Silent_p.L274L|SYT1_uc001syu.3_Silent_p.L271L|SYT1_uc001syv.3_Silent_p.L274L	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	274	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AAGAGAAATTGGGTGATATCT	0.373000														120			63		0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651679	1651679	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1651679C>T	uc001lty.3	+	0	647	c.609C>T	c.(607-609)agC>agT	p.S203S	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	203	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCCTGTAGCTGCTTCTCAG	0.592000														178			57		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31241586	31241586	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:31241586C>T	uc010dmg.1	+	4	417	c.362C>T	c.(361-363)tCg>tTg	p.S121L	ASXL3_uc002kxq.2_5'UTR	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTAGTTTGTTCGAAGCAGGTA	0.373000														14			4		0	0	1	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103599731	103599731	+	Silent	SNP	G	A	A	rs147415735	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:103599731G>A	uc001ymm.1	+	8	1709	c.1578G>A	c.(1576-1578)gtG>gtA	p.V526V	TNFAIP2_uc010awo.1_Intron|TNFAIP2_uc010txz.1_Silent_p.V195V|TNFAIP2_uc010tya.1_Silent_p.V9V	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	526					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			TGCACCTGGTGAAGGAGTACA	0.627000														62			18		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100593733	100593733	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:100593733G>A	uc003dun.3	-	8	968	c.883C>T	c.(883-885)Cct>Tct	p.P295S	ABI3BP_uc003duo.2_Missense_Mutation_p.P288S|ABI3BP_uc003dup.4_Missense_Mutation_p.P288S	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	295						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGGGATGCAGGAAGTTTTACA	0.353000														14			7		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50534694	50534694	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:50534694G>A	uc001zxz.3	-	11	2094	c.1752C>T	c.(1750-1752)tcC>tcT	p.S584S	HDC_uc001zxy.3_Silent_p.S327S|HDC_uc010uff.2_Silent_p.S551S	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	584					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.R583L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TGCAACTGAGGGAGCGCACCG	0.542000														228			75		0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41853402	41853402	+	Missense_Mutation	SNP	G	A	A	rs148972694	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:41853402G>A	uc001zof.2	+	1	438	c.202G>A	c.(202-204)Ggg>Agg	p.G68R		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	68	Ig-like C2-type 1.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CAGTGTGGAGGGGATGGAGGA	0.592000														72			8		0	0	1	0	0
ALKBH4	54784	broad.mit.edu	37	7	102097929	102097929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:102097929G>A	uc003uzl.3	-	2	859	c.821C>T	c.(820-822)tCg>tTg	p.S274L	ALKBH4_uc003uzm.3_Missense_Mutation_p.S201L	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN	Homo sapiens alkB, alkylation repair homolog 4 (E. coli) (ALKBH4), mRNA.	274						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						AAACTCAGCCGACAGCTCCCG	0.667000														37			14		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76381981	76381981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:76381981G>A	uc021rkq.1	+	9	1897	c.1562G>A	c.(1561-1563)cGa>cAa	p.R521Q	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Missense_Mutation_p.R288Q|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Missense_Mutation_p.R194Q	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	573						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATTGTTCGCCGAATTCCAGCA	0.453000														125			11		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100126602	100126602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:100126602C>T	uc001pga.3	+	16	2620	c.2116C>T	c.(2116-2118)Ctt>Ttt	p.L706F	CNTN5_uc001pfz.3_Missense_Mutation_p.L706F|CNTN5_uc021qpb.1_Missense_Mutation_p.L706F|CNTN5_uc021qpc.1_Missense_Mutation_p.L632F|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	706	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTCCTACAACCTTCAAGCTCG	0.502000														50			28		0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713209	138713209	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:138713209G>A	uc004cgr.4	-	10	3298	c.3298C>T	c.(3298-3300)Cgt>Tgt	p.R1100C	CAMSAP1_uc004cgq.4_Missense_Mutation_p.R990C|CAMSAP1_uc010nbg.3_Missense_Mutation_p.R822C	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1100						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTTCCGGAACGGGAATTCCGG	0.642000														37			15		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204589039	204589039	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204589039G>A	uc021phy.1	-	0	82	c.82C>T	c.(82-84)Ccc>Tcc	p.P28S	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.P28S|LRRN2_uc001hbf.1_Missense_Mutation_p.P28S|LRRN2_uc009xbf.1_Missense_Mutation_p.P28S|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	28	LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGGGGGCAGGGAACATGCCAG	0.647000														26			6		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081516	152081516	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152081516G>A	uc009wne.1	-	2	4449	c.4177C>T	c.(4177-4179)Ctt>Ttt	p.L1393F	TCHH_uc001ezp.2_Missense_Mutation_p.L1393F	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1393	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCTTAAGGAATTTTCTC	0.587000														166			20		0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8049772	8049772	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:8049772G>A	uc002gkd.3	-	15	2194	c.1956C>T	c.(1954-1956)gcC>gcT	p.A652A	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Silent_p.A636A	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	652	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGAGGAGGAGGCACATTTAC	0.592000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						43			21		0	0	1	0	0
UBE2J2	118424	broad.mit.edu	37	1	1203257	1203257	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1203257G>A	uc001adp.3	-	1	305	c.116C>T	c.(115-117)tCg>tTg	p.S39L	UBE2J2_uc001adm.3_5'UTR|UBE2J2_uc001ado.3_Missense_Mutation_p.S39L|UBE2J2_uc001adq.3_5'UTR|UBE2J2_uc001adr.3_Intron	NM_058167	NP_919440	Q8N2K1	UB2J2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2, J2 (UBE2J2), transcript variant 2, mRNA.	39					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.P38H(1)|p.S39S(1)		cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		GAGAATATTCGAAGGGAGGGG	0.632000														197			59		0	0	1	0	0
GALNT11	63917	broad.mit.edu	37	7	151791331	151791331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:151791331C>T	uc010lqg.1	+	1	249	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	GALNT11_uc011kvm.1_Intron|GALNT11_uc003wku.2_Missense_Mutation_p.R7W|GALNT11_uc003wkv.1_Missense_Mutation_p.R7W|GALNT11_uc011kvn.1_Non-coding_Transcript	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA.	7						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TGTCACAGTTCGGTATTTCTG	0.368000														297			141		0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724971	49724972	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49724971_49724972CC>AT	uc009zlh.3	+	12	2510_2511	c.2343_2344CC>AT	c.(2341-2346)ctccct>ctATct	p.P782S	TROAP_uc001rtx.4_Intron	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	0					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCCCAGACCTCCCTCTAAATTT	0.584000														27			11		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49823439	49823439	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:49823439G>A	uc002efs.3	-	2	333	c.35C>T	c.(34-36)tCa>tTa	p.S12L		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	12					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CGAGAAGTCTGAGGCCTCCCC	0.582000														35			23		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15978098	15978098	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:15978098G>A	uc010lsu.3	-	8	1169	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*	MSR1_uc003wwz.3_Nonsense_Mutation_p.R351*|MSR1_uc003wxa.3_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	351	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.R351R(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCGACCAGTCGAACTTTCGTA	0.453000														55			22		0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117297532	117297532	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:117297532G>A	uc001egu.4	+	1	370	c.341G>A	c.(340-342)gGa>gAa	p.G114E	CD2_uc010owz.1_Missense_Mutation_p.G114E|CD2_uc010oxa.1_Missense_Mutation_p.G114E	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	114	Ig-like V-type.|LFA-3 (CD58) binding region 2.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GATACAAAAGGAAAAAATGTG	0.308000														45			7		0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219521016	219521016	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219521016G>A	uc002vin.3	-	3	573	c.137C>T	c.(136-138)tCc>tTc	p.S46F	ZNF142_uc002vil.3_5'UTR|ZNF142_uc010fvt.3_5'UTR|ZNF142_uc002vim.3_5'UTR	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGGTCCCGGGAAGGACAGGG	0.602000														60			35		0	0	1	0	0
C12orf77	196415	broad.mit.edu	37	12	25148783	25148783	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:25148783T>A	uc001rgf.3	-	2	570	c.365A>T	c.(364-366)aAa>aTa	p.K122I		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	Homo sapiens chromosome 12 open reading frame 77 (C12orf77), mRNA.	122										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TGGGTTTCTTTTTGTAAAGTC	0.408000														40			20		0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36017667	36017667	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36017667C>T	uc002oad.2	-	0	1587	c.1517G>A	c.(1516-1518)gGa>gAa	p.G506E	SBSN_uc002oae.2_Missense_Mutation_p.G163E|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	163						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CACTTCCTTTCCAGCCTGGTC	0.592000														89			10		0	0	1	0	0
TSGA10	80705	broad.mit.edu	37	2	99634720	99634720	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:99634720G>A	uc002szg.4	-	17	2643	c.2015C>T	c.(2014-2016)tCa>tTa	p.S672L	TSGA10_uc002szh.4_Missense_Mutation_p.S672L|TSGA10_uc002szi.4_Missense_Mutation_p.S672L|TSGA10_uc010fin.1_Missense_Mutation_p.S672L	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	672	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ACGTTCTGGTGAATGACATTT	0.418000														63			18		0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704941	52704941	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:52704941C>T	uc001cto.3	+	3	2024	c.1852C>T	c.(1852-1854)Ctt>Ttt	p.L618F	ZFYVE9_uc001ctn.3_Missense_Mutation_p.L618F|ZFYVE9_uc001ctp.3_Missense_Mutation_p.L618F	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	618					SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AAATGATATTCTTGGGAAAGC	0.328000														117			12		0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7684729	7684729	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7684729G>A	uc002mgx.3	-	17	2436	c.2410C>T	c.(2410-2412)Cgg>Tgg	p.R804W		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	804					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						AGCTCCTCCCGGGAGGCGTCA	0.682000								Direct reversal of damage;Nucleotide excision repair (NER)						128			35		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90129102	90129102	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90129102C>T	uc002boe.3	+	3	1340	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F	C15orf42_uc021sug.1_Missense_Mutation_p.S446F	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	447					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GACACAGCTTCCCTTTTCTCA	0.483000														72			84		0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44052128	44052128	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:44052128G>A	uc002rtn.3	-	6	944	c.804C>T	c.(802-804)ttC>ttT	p.F268F	ABCG5_uc002rtm.3_Intron|ABCG5_uc002rto.3_Intron|ABCG5_uc002rtp.3_Intron	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	268	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCAGCTCTCCGAAGCTCAGGA	0.458000														34			13		0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95606880	95606880	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:95606880G>A	uc003uoc.4	+	6	875	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	DYNC1I1_uc003uod.4_Missense_Mutation_p.E183K|DYNC1I1_uc003uob.3_Missense_Mutation_p.E163K|DYNC1I1_uc003uoe.4_Missense_Mutation_p.E180K|DYNC1I1_uc010lfl.3_Missense_Mutation_p.E189K	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	200					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)			CTCAGAACTGGAAAATCAGGA	0.323000														41			5		0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7862555	7862555	+	Missense_Mutation	SNP	C	T	T	rs150526011	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7862555C>T	uc003mxu.4	+	3	1206	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	343			A -> D (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.A343D(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CACCCCCGAGCCGCAGGCCTG	0.532000														134			55		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75444658	75444658	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:75444658C>T	uc001sxg.1	-	2	1671	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	KCNC2_uc009zry.3_Missense_Mutation_p.R376Q|KCNC2_uc001sxe.3_Missense_Mutation_p.R376Q|KCNC2_uc001sxf.3_Missense_Mutation_p.R376Q|KCNC2_uc010stw.1_Missense_Mutation_p.R376Q	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	376					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R376*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AGTACTAGCTCGAAGAGTATG	0.453000														48			6		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141006949	141006949	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:141006949C>T	uc004cog.3	+	38	5667	c.5522C>T	c.(5521-5523)cCc>cTc	p.P1841L	CACNA1B_uc022bqn.1_Missense_Mutation_p.P1841L|CACNA1B_uc004coi.3_Missense_Mutation_p.P1055L|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Missense_Mutation_p.P123L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1843					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTGGTACCACCCCATAAGCGT	0.577000														28			15		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3319150	3319150	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:3319150C>T	uc003ggw.3	+	1	2157	c.1253C>T	c.(1252-1254)aCc>aTc	p.T418I	RGS12_uc003ggu.2_Missense_Mutation_p.T418I|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.T418I|RGS12_uc003ggx.1_Missense_Mutation_p.T418I	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	418						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AACAACAGCACCAGCAGCAAC	0.617000														74			31		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48698262	48698262	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48698262G>A	uc003cuf.1	-	2	2016	c.2016C>T	c.(2014-2016)atC>atT	p.I672I	CELSR3_uc003cul.3_Silent_p.I602I	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	602	Cadherin 4.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCACCACCTGGATCTCGCCAG	0.607000														23			8		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112732956	112732956	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:112732956G>A	uc002thk.1	+	6	1173	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T	MERTK_uc002thl.1_Missense_Mutation_p.A175T	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	351	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCAGCTGCAAGCCCTGGCTAA	0.473000														142			63		0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854443	53854443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53854443C>T	uc010ydv.1	+	3	632	c.515C>T	c.(514-516)tCg>tTg	p.S172L	ZNF845_uc010ydw.1_Missense_Mutation_p.S172L	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AACAGTGCTTCGTTGGTTTCA	0.393000														115			44		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94495007	94495007	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94495007G>A	uc001dqh.3	-	29	4637	c.4533C>T	c.(4531-4533)ccC>ccT	p.P1511P		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1511					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)		GTACCTGGGGGGGCGGGAGGC	0.627000														5			6		0	0	1	0	0
MPPE1	65258	broad.mit.edu	37	18	11886545	11886545	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:11886545G>A	uc002kqf.3	-	8	1616	c.820C>T	c.(820-822)Cca>Tca	p.P274S	MPPE1_uc002kqg.3_Non-coding_Transcript|MPPE1_uc002kqh.3_Non-coding_Transcript|MPPE1_uc002kqi.3_Non-coding_Transcript|MPPE1_uc002kqn.3_Intron|MPPE1_uc002kqm.3_Intron|MPPE1_uc010dla.2_Missense_Mutation_p.P275S	NM_023075	NP_075563	Q53F39	MPPE1_HUMAN	Homo sapiens metallophosphoesterase 1 (MPPE1), transcript variant 1, mRNA.	274					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	ER-Golgi intermediate compartment membrane|cis-Golgi network|endoplasmic reticulum exit site|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						TCCTTAAATGGGATGTCCCTT	0.507000														51			26		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111109730	111109730	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:111109730C>T	uc001vqx.3	+	20	1669	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	460	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GAAGAGCAGGCTTCCCTGGGC	0.617000														42			11		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63047835	63047835	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:63047835C>T	uc002alb.4	+	33	4581	c.4581C>T	c.(4579-4581)ttC>ttT	p.F1527F	TLN2_uc002alc.4_5'UTR|TLN2_uc002ald.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1527					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGAGGCACTTCGTCCAGTCAG	0.562000														68			14		0	0	1	0	0
TTYH1	57348	broad.mit.edu	37	19	54930377	54930377	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54930377C>T	uc002qfr.3	+	1	324	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	TTYH1_uc010yey.2_Missense_Mutation_p.R117C|TTYH1_uc002qfq.3_Missense_Mutation_p.R68C|TTYH1_uc002qft.3_Missense_Mutation_p.R68C|TTYH1_uc002qfu.1_5'UTR	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN	Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA.	68					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CTACCTCATCCGCTTCTGCTG	0.687000														97			35		0	0	1	0	0
METTL22	79091	broad.mit.edu	37	16	8738571	8738571	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:8738571C>T	uc002cyz.3	+	9	1444	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F	METTL22_uc021tcq.1_Non-coding_Transcript|BX537921_uc002czb.3_5'Flank	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	Homo sapiens methyltransferase like 22 (METTL22), mRNA.	390							methyltransferase activity			large_intestine(5)|lung(4)	9						TTACGAGCGCCTCCAGCAACT	0.632000														33			11		0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71825460	71825461	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:71825460_71825461GG>AA	uc004eax.4	-	23	2916_2917	c.2615_2616CC>TT	c.(2614-2616)ccc>cTT	p.P872L	PHKA1_uc004eay.4_Missense_Mutation_p.P872L|PHKA1_uc011mqi.2_Missense_Mutation_p.P813L	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	872					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GCGCCTCATAGGGCAGAGGTCT	0.391000														17			15		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15061169	15061170	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15061169_15061170CC>TT	uc002naa.1	-	8	1539_1540	c.1532_1533GG>AA	c.(1531-1533)ggg>gAA	p.G511E	SLC1A6_uc010dzu.1_Missense_Mutation_p.G433E|SLC1A6_uc010xod.1_Missense_Mutation_p.G447E	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	511					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CAATTGAGTCCCCCAGTACGTT	0.564000														50			22		0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74414831	74414831	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:74414831G>A	uc003dpm.1	-	7	1049	c.969C>T	c.(967-969)ctC>ctT	p.L323L		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	323	Ig-like C2-type 4.				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)		CATCCTTTATGAGTTGAACCC	0.398000														234			74		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20555588	20555588	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:20555588C>T	uc003gpr.1	+	25	2926	c.2722C>T	c.(2722-2724)Caa>Taa	p.Q908*	SLIT2_uc003gps.1_Nonsense_Mutation_p.Q900*	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	908	LRRCT 4.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATTTACCTGTCAAGGTATGGT	0.338000														71			30		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196865582	196865582	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196865582G>A	uc002utj.4	-	11	1300	c.1199C>T	c.(1198-1200)cCa>cTa	p.P400L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	400	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GATGAAACCTGGATGTTCAAA	0.323000														95			36		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20990669	20990669	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20990669C>T	uc010vbe.2	-	49	8059	c.8059G>A	c.(8059-8061)Gac>Aac	p.D2687N	DNAH3_uc010vbd.2_Missense_Mutation_p.D122N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2687	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTGCAAAGTCGAGTTTCTGC	0.512000														44			13		0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	219000422	219000422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219000422G>A	uc002vgz.2	+	3	1108	c.898G>A	c.(898-900)Gag>Aag	p.E300K	CXCR2_uc002vha.2_Missense_Mutation_p.E300K|CXCR2_uc002vhb.2_Missense_Mutation_p.E300K|CXCR2_uc021vwp.1_Missense_Mutation_p.E300K	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	300					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	p.T299T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GGATGCCACCGAGATTCTGGG	0.567000														104			31		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370494	56370494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56370494C>T	uc002qmd.4	+	2	2157	c.1735C>T	c.(1735-1737)Cat>Tat	p.H579Y	NLRP4_uc002qmf.3_Missense_Mutation_p.H504Y|NLRP4_uc010etf.3_Missense_Mutation_p.H410Y	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	579							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGCTAACTTTCATATTATTGA	0.428000														61			27		0	0	1	0	0
DKK1	22943	broad.mit.edu	37	10	54074332	54074332	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:54074332C>T	uc001jjr.3	+	0	292	c.138C>T	c.(136-138)ccC>ccT	p.P46P	LOC100506939_uc009xox.2_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	Homo sapiens dickkopf 1 homolog (Xenopus laevis) (DKK1), mRNA.	46					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						AGAACCTGCCCCCACCGCTGG	0.647000											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		95			31		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70934981	70934981	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:70934981C>T	uc002ezr.3	-	52	9122	c.8971G>A	c.(8971-8973)Gag>Aag	p.E2991K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2992										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)				TACTCAGCCTCAGGGGGGATG	0.572000														197			23		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42227377	42227377	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:42227377G>A	uc003ose.2	-	8	2592	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W	TRERF1_uc011duq.1_Missense_Mutation_p.R574W|TRERF1_uc003osb.2_Missense_Mutation_p.R413W|TRERF1_uc003osc.2_Missense_Mutation_p.R413W|TRERF1_uc003osd.2_Missense_Mutation_p.R657W	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	657	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGTTCCGGCCGGTGCCGGAAC	0.637000														87			12		0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79725486	79725486	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:79725486C>T	uc011dyp.2	-	13	1476	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	PHIP_uc003pir.3_Missense_Mutation_p.G417E	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	417					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATCTTCTATTCCTTGAAGGTT	0.303000														25			16		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185902943	185902943	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:185902943C>T	uc001grq.1	+	10	2044	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	605	Ig-like C2-type 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTCAGTTTTCCTCACAGTGC	0.398000														186			50		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156658	22156658	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22156658C>T	uc021urr.1	-	3	1327	c.1178G>A	c.(1177-1179)gGa>gAa	p.G393E	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)				GGGTTTCTCTCCAGTATGAAT	0.383000														77			7		0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179214050	179214050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179214050G>A	uc002uly.3	+	12	1706	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N	OSBPL6_uc002ulw.3_Missense_Mutation_p.D332N|OSBPL6_uc002ulx.3_Missense_Mutation_p.D363N|OSBPL6_uc010zfe.2_Missense_Mutation_p.D332N|OSBPL6_uc002ulz.3_Missense_Mutation_p.D363N|OSBPL6_uc002uma.3_Missense_Mutation_p.D367N	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	363					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCACCTCACTGACCCTCTGGA	0.438000														171			70		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17446114	17446114	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17446114C>T	uc002zlw.3	-	6	1441	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	445										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AAGGAGAGCTCATTGATGACC	0.567000														40			8		0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86386565	86386565	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:86386565C>T	uc003ydk.2	+	3	544	c.364C>T	c.(364-366)Cac>Tac	p.H122Y		NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	122					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TCACTTGGTTCACTGGAACAC	0.408000														149			67		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16910720	16910720	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16910720G>A	uc002neu.4	+	16	3905	c.3483G>A	c.(3481-3483)ggG>ggA	p.G1161G	NWD1_uc002net.4_Silent_p.G1026G|NWD1_uc002nev.4_Silent_p.G955G|NWD1_uc021uqg.1_Silent_p.G1026G	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1161							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						CAGAACAGGGGACCCTTCTGG	0.577000														46			20		0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179302048	179302048	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:179302048G>A	uc003mlh.3	-	11	2075	c.2040C>T	c.(2038-2040)ccC>ccT	p.P680P	TBC1D9B_uc003mli.3_Silent_p.P680P|TBC1D9B_uc003mlj.3_Silent_p.P680P|TBC1D9B_uc011dgv.2_5'Flank	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	680	Rab-GAP TBC.					integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCTCTCGAAGGGCATGACGC	0.607000														71			30		0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2983282	2983282	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2983282G>A	uc001qlf.3	-	1	646	c.363C>T	c.(361-363)ctC>ctT	p.L121L	FOXM1_uc001qle.3_Silent_p.L121L|FOXM1_uc009zea.3_Silent_p.L121L|FOXM1_uc009zeb.3_Silent_p.L121L|FOXM1_uc001qlg.3_Silent_p.L121L	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	121					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TTTGAGGCCGGAGTCCTGGAG	0.542000														99			36		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91779643	91779643	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:91779643C>T	uc010aty.3	-	14	2671	c.2517G>A	c.(2515-2517)aaG>aaA	p.K839K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	839					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCTTGGCCTCCTTCTCCAGCA	0.627000														94			31		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990197	15990197	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15990197C>T	uc002nbs.1	-	11	1406	c.1356G>A	c.(1354-1356)gaG>gaA	p.E452E	CYP4F2_uc010xot.1_Silent_p.E303E	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	452					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAGGTGACCTCTCCTTGATGT	0.602000														186			65		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212685	26212685	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:26212685C>T	uc022buc.1	+	0	722	c.722C>T	c.(721-723)tCc>tTc	p.S241F	MAGEB6_uc004dbr.3_Missense_Mutation_p.S241F	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	241	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AACAGAACCTCCCAACATTTG	0.498000														14			33		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242399	126242399	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126242399G>A	uc003ifj.4	+	0	4833	c.4833G>A	c.(4831-4833)agG>agA	p.R1611R		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1611	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGAAAGGAGGAAATCGACCA	0.438000														122			42		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82578909	82578909	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82578909G>A	uc003uhx.2	-	5	11284	c.10995C>T	c.(10993-10995)ccC>ccT	p.P3665P	PCLO_uc003uhv.2_Silent_p.P3665P|PCLO_uc010lec.3_Silent_p.P630P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3596					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						GACTTGCTGGGGGAACTTTAG	0.478000														284			27		0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113038	18113038	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:18113038C>T	uc021veh.1	+	0	763	c.763C>T	c.(763-765)Ctg>Ttg	p.L255L	KCNS3_uc002rcv.3_Silent_p.L255L|KCNS3_uc002rcw.3_Silent_p.L255L	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	255					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAAAAACCCTCTGAACATCAT	0.512000														136			31		0	0	1	0	0
DMRTA1	63951	broad.mit.edu	37	9	22451350	22451350	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:22451350C>T	uc003zpp.1	+	1	1180	c.955C>T	c.(955-957)Ctt>Ttt	p.L319F		NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN	Homo sapiens DMRT-like family A1 (DMRTA1), mRNA.	319					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		CAAGGCAAGCCTTCCGACAGT	0.478000														49			6		0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96971770	96971770	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96971770C>T	uc001kke.3	+	5	1016	c.891C>T	c.(889-891)ttC>ttT	p.F297F	C10orf129_uc009xuu.1_Silent_p.F207F	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	297					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TGCCAACCTTCTGCCCTGAGA	0.502000														51			19		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70087514	70087514	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70087514G>A	uc001svg.3	-	3	648	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	BEST3_uc001svd.2_Missense_Mutation_p.R141C|BEST3_uc010stm.2_Missense_Mutation_p.R35C|BEST3_uc001svi.1_Non-coding_Transcript	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	141						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CTCACCGAGCGAAAGATGAGC	0.532000														68			31		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56545017	56545017	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56545017G>A	uc002qmj.3	+	8	2557	c.2557G>A	c.(2557-2559)Gat>Aat	p.D853N	NLRP5_uc002qmi.3_Missense_Mutation_p.D834N	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	853						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAAGGAAGAGGATGTAAGGAT	0.483000														199			74		0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40814611	40814611	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:40814611G>A	uc003ayv.1	-	8	2038	c.1831C>T	c.(1831-1833)Cct>Tct	p.P611S	MKL1_uc010gyf.1_Missense_Mutation_p.P561S|MKL1_uc003ayw.1_Missense_Mutation_p.P611S|MKL1_uc010gye.1_Missense_Mutation_p.P611S	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	611	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						ACAGCACAAGGGTCTATGTGG	0.701000			T	RBM15	acute megakaryocytic leukemia									24			8		0	0	1	0	0
C1orf192	257177	broad.mit.edu	37	1	161334873	161334873	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161334873C>T	uc001gal.3	-	4	422	c.416G>A	c.(415-417)cGa>cAa	p.R139Q		NM_001013625	NP_001013647	Q5VTH2	CA192_HUMAN	Homo sapiens chromosome 1 open reading frame 192 (C1orf192), mRNA.	139										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGTTGGACTTCGTGCTTGTTG	0.488000														87			32		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116339546	116339546	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:116339546C>T	uc003vij.3	+	1	595	c.408C>T	c.(406-408)gtC>gtT	p.V136V	MET_uc022akk.1_Silent_p.V136V|MET_uc010lkh.3_Silent_p.V136V|MET_uc011knc.1_Silent_p.V136V|MET_uc011knd.2_Silent_p.V136V|MET_uc011knf.2_Silent_p.V136V|MET_uc011kne.2_Silent_p.V136V|MET_uc011kng.1_Silent_p.V136V|MET_uc011knh.1_Silent_p.V136V|MET_uc011kni.2_Silent_p.V136V|MET_uc003vii.1_Silent_p.V155V|MET_uc010lkg.3_Silent_p.V136V|MET_uc011kmz.1_Silent_p.V136V|MET_uc011kna.1_Silent_p.V136V|MET_uc011knb.1_Silent_p.V136V	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	136	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.V136I(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTGGCAGCGTCAACAGAGGGA	0.473000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					174			17		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49166090	49166090	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49166090G>A	uc001rsh.4	-	16	3435	c.2775C>T	c.(2773-2775)ctC>ctT	p.L925L	ADCY6_uc001rsi.4_Silent_p.L872L|ADCY6_uc001rsj.4_Silent_p.L925L|ADCY6_uc010slw.1_Silent_p.L156L|MIR4701_uc021qxl.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	925					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.F924F(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GTAGTTTCCAGAGGAAGTCTA	0.567000														79			12		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060232	54060233	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:54060232_54060233CC>TT	uc001cvr.1	-	2	910_911	c.343_344GG>AA	c.(343-345)ggc>AAc	p.G115N		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	115					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CTTGGAAGGGCCCCCCAGATCT	0.644000														51			10		0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47958661	47958661	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:47958661G>A	uc003csb.2	-	6	1182	c.656C>T	c.(655-657)cCc>cTc	p.P219L	MAP4_uc003csc.3_Missense_Mutation_p.P219L|MAP4_uc011bbf.1_Missense_Mutation_p.P196L|MAP4_uc003csf.3_Missense_Mutation_p.P236L	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	219					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TAGCTCTAAGGGAACTAAATT	0.413000														109			37		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87045064	87045064	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:87045064C>T	uc009wcs.3	+	12	2194	c.2150C>T	c.(2149-2151)cCt>cTt	p.P717L	CLCA4_uc009wct.3_Missense_Mutation_p.P480L|CLCA4_uc009wcu.3_Missense_Mutation_p.P537L	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	717						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			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)		CCGCCAAGACCTGAAATTGAT	0.438000														67			32		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467212	10467212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10467212C>T	uc003wtc.3	-	3	4625	c.4396G>A	c.(4396-4398)Gag>Aag	p.E1466K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1466					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)		CTCTGCCTCTCGCTGGCACTT	0.657000														78			40		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12711222	12711222	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12711222G>A	uc001auf.3	+	1	249	c.249G>A	c.(247-249)aaG>aaA	p.K83K		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	83						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GAATTAAAAAGGACCCTGAAC	0.483000														114			45		0	0	1	0	0
LY6D	8581	broad.mit.edu	37	8	143867029	143867029	+	Missense_Mutation	SNP	G	A	A	rs144613234		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:143867029G>A	uc003yxf.1	-	1	203	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C		NM_003695	NP_003686	Q14210	LY6D_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus D (LY6D), mRNA.	43	UPAR/Ly6.				cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding			large_intestine(1)|lung(3)|prostate(1)	5	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)					TTGCAGAAGCGAGAGCTGGCC	0.637000														51			33		0	0	1	0	0
AK2	204	broad.mit.edu	37	1	33478956	33478956	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:33478956G>A	uc001bwp.2	-	5	629	c.546C>T	c.(544-546)gcC>gcT	p.A182A	BC036308_uc001bwn.3_Intron|AK2_uc001bwq.2_Silent_p.A134A|AK2_uc010ohq.2_Silent_p.A174A|AK2_uc001bwo.2_Silent_p.A182A|AK2_uc009vud.2_Silent_p.A140A|AK2_uc010ohr.2_Silent_p.A134A	NM_001625	NP_001616	P54819	KAD2_HUMAN	Homo sapiens adenylate kinase 2 (AK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	182					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	ATP binding|adenylate kinase activity			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GGATTTTCAAGGCCTTTTCAT	0.512000														36			24		0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67508495	67508495	+	Missense_Mutation	SNP	C	T	T	rs76231229	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:67508495C>T	uc002lkl.3	+	7	1069	c.872C>T	c.(871-873)tCg>tTg	p.S291L		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	291							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GGGTTTGGTTCGTCAAAGATG	0.473000														128			54		0	0	1	0	0
ZNF317	57693	broad.mit.edu	37	19	9271434	9271434	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9271434C>T	uc002mku.3	+	6	1418	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	ZNF317_uc002mkv.3_Silent_p.F230F|ZNF317_uc002mkw.3_Silent_p.F339F|ZNF317_uc002mkx.3_Silent_p.F286F|ZNF317_uc002mky.3_Silent_p.F254F	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCAAAGCCTTCCGCTGGAAGT	0.537000														27			9		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2711054	2711054	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2711054C>T	uc009zdu.1	+	22	3261	c.2948C>T	c.(2947-2949)tCt>tTt	p.S983F	CACNA1C_uc001qkc.2_Missense_Mutation_p.S963F|CACNA1C_uc001qjz.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkd.2_Missense_Mutation_p.S963F|CACNA1C_uc001qke.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkf.2_Missense_Mutation_p.S963F|CACNA1C_uc009zdw.1_Missense_Mutation_p.S963F|CACNA1C_uc001qkg.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkh.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkl.2_Missense_Mutation_p.S983F|CACNA1C_uc001qkj.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkk.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkn.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkm.2_Missense_Mutation_p.S963F|CACNA1C_uc001qko.2_Missense_Mutation_p.S983F|CACNA1C_uc001qkp.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkq.2_Missense_Mutation_p.S963F|CACNA1C_uc001qku.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkr.2_Missense_Mutation_p.S963F|CACNA1C_uc001qks.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkt.2_Missense_Mutation_p.S963F|CACNA1C_uc009zdv.1_Missense_Mutation_p.S960F|CACNA1C_uc001qkb.2_Missense_Mutation_p.S963F|CACNA1C_uc001qka.1_Missense_Mutation_p.S498F|CACNA1C_uc001qki.1_Missense_Mutation_p.S699F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	983					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.S498Y(1)|p.S963Y(1)|p.S1013Y(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CACAAGGGTTCTTTCTGCCGG	0.577000														42			17		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432383	104432383	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104432383C>T	uc004bbp.2	-	2	2912	c.2311G>A	c.(2311-2313)Gag>Aag	p.E771K	GRIN3A_uc004bbq.1_Missense_Mutation_p.E771K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	771					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TAGATCTTCTCACCTACCATG	0.383000														71			39		0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6312194	6312195	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6312194_6312195GG>AA	uc002mel.2	-	2	393_394	c.315_316CC>TT	c.(313-318)ccccgc>ccTTgc	p.R106C		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	106						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						AAATAGCAGCGGGGCATCCATA	0.584000														46			14		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93839179	93839179	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:93839179G>A	uc001pep.2	+	16	3085	c.2928G>A	c.(2926-2928)ggG>ggA	p.G976G	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	976	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGATTTTTGGGAATCTCCATG	0.333000														37			15		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832642	24832642	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:24832642G>A	uc001iru.4	+	18	4846	c.4443G>A	c.(4441-4443)gaG>gaA	p.E1481E	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Silent_p.E1164E|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Silent_p.E317E	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1481					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						aaaagatagaggaggaggaag	0.448000														51			6		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91780176	91780176	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:91780176C>T	uc010aty.3	-	14	2138	c.1984G>A	c.(1984-1986)Gag>Aag	p.E662K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	662					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCCAGGGCCTCGACTTTCTCG	0.632000														22			5		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141025	143141025	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143141025C>T	uc011ktg.2	+	0	480	c.480C>T	c.(478-480)ttC>ttT	p.F160F	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	160					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TTCTATTTTTCATAGGCAACC	0.453000														170			55		0	0	1	0	0
HTR7P1	93164	broad.mit.edu	37	12	13155411	13155411	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:13155411C>T	uc010shq.2	+	0		c.2036C>T			HEBP1_uc001rbd.3_5'Flank|HTR7P1_uc001rbh.3_Intron					Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 pseudogene 1 (HTR7P1), non-coding RNA.																		GCAGCGACTACCTTGGGGATC	0.527000														17			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179644044	179644044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179644044C>T	uc021vsy.1	-	22	4100	c.3875G>A	c.(3874-3876)gGa>gAa	p.G1292E	TTN_uc021vsz.1_Missense_Mutation_p.G1246E|TTN_uc021vta.1_Missense_Mutation_p.G1246E|TTN_uc021vtb.1_Missense_Mutation_p.G1246E|TTN_uc002unb.2_Missense_Mutation_p.G1292E|AK123298_uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1292	Ig-like 5.						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)			TGAATCAAATCCTGATTCAAC	0.328000														54			12		0	0	1	0	0
PNMT	5409	broad.mit.edu	37	17	37826205	37826205	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:37826205G>A	uc002hsi.1	+	3	633	c.411_splice	c.e3-1	p.G137_splice		NM_002686	NP_002677	P11086	PNMT_HUMAN	Homo sapiens phenylethanolamine N-methyltransferase (PNMT), mRNA.	137					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCTGCACAGGGAATGCTGGCA	0.652000														51			8		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99944898	99944898	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:99944898G>A	uc001pga.3	+	12	1956	c.1452G>A	c.(1450-1452)ctG>ctA	p.L484L	CNTN5_uc009ywv.2_Silent_p.L484L|CNTN5_uc001pfz.3_Silent_p.L484L|CNTN5_uc021qpb.1_Silent_p.L484L|CNTN5_uc021qpc.1_Silent_p.L410L	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	484	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.L484L(3)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTTTTGCACTGAATCAACTGA	0.373000														34			5		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38646359	38646359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38646359G>A	uc021wvo.1	-	9	1431	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F	SCN5A_uc021wvk.1_Missense_Mutation_p.S460F|SCN5A_uc021wvl.1_Missense_Mutation_p.S460F|SCN5A_uc021wvm.1_Missense_Mutation_p.S460F|SCN5A_uc021wvn.1_Missense_Mutation_p.S460F|SCN5A_uc021wvp.1_Missense_Mutation_p.S460F|SCN5A_uc021wvq.1_Missense_Mutation_p.S460F|SCN5A_uc021wvr.1_Missense_Mutation_p.S460F|SCN5A_uc021wvs.1_Missense_Mutation_p.S460F|SCN5A_uc021wvt.1_Missense_Mutation_p.S460F|SCN5A_uc021wvu.1_Missense_Mutation_p.S460F|SCN5A_uc021wvv.1_Missense_Mutation_p.S460F|SCN5A_uc021wvj.1_Missense_Mutation_p.S326F|SCN5A_uc021wvi.1_Missense_Mutation_p.S326F|SCN5A_uc021wvw.1_Missense_Mutation_p.S71F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	460					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CATCTCCAAGGAGCTACGGGA	0.547000														22			9		0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17418070	17418070	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:17418070G>A	uc010hev.3	-	10	912	c.648C>T	c.(646-648)gtC>gtT	p.V216V	TBC1D5_uc003cbf.3_Silent_p.V216V|TBC1D5_uc003cbe.3_Silent_p.V216V|TBC1D5_uc010hew.1_Silent_p.V168V	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	216	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CACAGTGAAGGACAAAGACTA	0.418000														67			19		0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16328098	16328098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:16328098G>A	uc003nbt.3	-	7	1415	c.444C>T	c.(442-444)atC>atT	p.I148I	ATXN1_uc010jpi.3_Silent_p.I148I|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	148					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CGGTTGGGGGGATCAGCTGTG	0.632000														96			32		0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116862069	116862069	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:116862069C>T	uc003vin.3	+	14	1805	c.1591C>T	c.(1591-1593)Ctc>Ttc	p.L531F	ST7_uc011knl.2_Missense_Mutation_p.L508F|ST7_uc003vio.3_Missense_Mutation_p.L508F|ST7_uc003viq.3_Missense_Mutation_p.L485F|ST7_uc011knm.2_Missense_Mutation_p.L488F|ST7_uc003vir.3_Missense_Mutation_p.L451F	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	Homo sapiens suppression of tumorigenicity 7 (ST7), transcript variant b, mRNA.	531						integral to membrane	binding	p.A530V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CATGCTGGCCCTCCTGACACA	0.507000														92			27		0	0	1	0	0
AK125237	0	broad.mit.edu	37	10	27577691	27577691	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:27577691G>A	uc001itt.1	+	3		c.581G>A								Homo sapiens cDNA FLJ43247 fis, clone HEART2000611.																		CCATCGTCAGGAAGCAAGTGC	0.403000														51			8		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294372	25294372	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25294372G>A	uc003abg.2	+	19	2778	c.2621G>A	c.(2620-2622)aGc>aAc	p.S874N	SGSM1_uc010guu.1_Missense_Mutation_p.S819N|SGSM1_uc003abh.2_Missense_Mutation_p.S813N|SGSM1_uc003abj.2_Missense_Mutation_p.S758N|SGSM1_uc003abi.1_Missense_Mutation_p.S794N	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	874	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGCTGGAGGAGCAGCGAGACA	0.592000														92			11		0	0	1	0	0
LOC407835	407835	broad.mit.edu	37	7	128766894	128766894	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128766894C>G	uc003voo.3	+	0	570	c.323C>G	c.(322-324)cCg>cGg	p.P108R						Homo sapiens mitogen-activated protein kinase kinase 2 pseudogene (LOC407835), non-coding RNA.																		GAGATCAAGCCGGCCATCCGG	0.617000														32			15		0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53157793	53157793	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:53157793G>A	uc003dgj.3	-	2	267	c.213C>T	c.(211-213)ctC>ctT	p.L71L		NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA.	71					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		TGCCCCCACTGAGACATGCTC	0.537000														46			19		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170003441	170003441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170003441C>T	uc002ues.3	-	68	12832	c.12619G>A	c.(12619-12621)Gaa>Aaa	p.E4207K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4207					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATTTTAGGTTCCTTTCCCCAG	0.473000														33			12		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175117	140175117	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140175117G>A	uc003lhd.2	+	0	674	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E190K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E190K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	205	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.E190K(4)		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)			TGAACTAAGCGAATCTTTGTC	0.458000														93			38		0	0	1	0	0
OR9G9	390174	broad.mit.edu	37	11	56468546	56468546	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56468546C>T	uc010rjn.2	+	0	683	c.683C>T	c.(682-684)tCc>tTc	p.S228F	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TTGAGGATCTCCTCCTCCAAG	0.512000														214			42		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43503703	43503703	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43503703G>A	uc001zrb.4	-	3	850	c.550C>T	c.(550-552)Cag>Tag	p.Q184*	EPB42_uc001zqz.4_5'Flank|EPB42_uc001zra.4_Nonsense_Mutation_p.Q154*|EPB42_uc010udm.2_Nonsense_Mutation_p.Q76*	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	154					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TCCATGCGCTGAGCCTCATTC	0.582000														89			30		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104071293	104071293	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:104071293G>A	uc001tjw.3	+	24	2895	c.2709G>A	c.(2707-2709)ggG>ggA	p.G903G		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	903	EGF-like 8.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTTGGACAGGGAATGGGAGAG	0.572000														103			30		0	0	1	0	0
NR4A1	3164	broad.mit.edu	37	12	52451249	52451249	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52451249C>T	uc001rzs.3	+	6	1794	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	NR4A1_uc010sno.2_Missense_Mutation_p.S505F|NR4A1_uc001rzt.3_Missense_Mutation_p.S492F|NR4A1_uc009zmc.3_Missense_Mutation_p.P106S	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	492					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TTCTCAAGGTCCCTGCACAGC	0.602000														58			10		0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101583015	101583015	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:101583015G>A	uc003knm.3	-	9	2039	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	584					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTACAATAAAGAAAATGCAAA	0.358000														86			54		0	0	1	0	0
BIRC3	330	broad.mit.edu	37	11	102201741	102201741	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102201741G>A	uc001pgx.3	+	5	3888	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA.	365					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TATCCATTTTGAACCTGGAGA	0.328000			T	MALT1	MALT									55			26		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135779312	135779312	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:135779312G>A	uc002tue.1	-	1	142	c.111C>T	c.(109-111)atC>atT	p.I37I	YSK4_uc010fne.1_Silent_p.I9I|YSK4_uc002tuf.1_Silent_p.I37I|YSK4_uc010fnc.1_Silent_p.I37I|YSK4_uc010fnd.1_Silent_p.I37I|YSK4_uc010zbg.1_Silent_p.I37I|YSK4_uc002tui.4_Silent_p.I54I	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	37							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTTGCAAGATGATGTTTTGAT	0.373000														35			18		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197208454	197208454	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:197208454C>T	uc002utm.1	-	2	510	c.327G>A	c.(325-327)aaG>aaA	p.K109K	HECW2_uc002utl.1_5'UTR	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	109					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CACCCCTGTTCTTAGAATCCC	0.383000														191			70		0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123901226	123901226	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123901226G>A	uc001pzp.1	+	0	897	c.897G>A	c.(895-897)ttG>ttA	p.L299L		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAGCTCTGTTGAAGCTGAAAG	0.458000														81			30		0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26877949	26877949	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26877949C>T	uc001bmr.1	+	4	532	c.369C>T	c.(367-369)ttC>ttT	p.F123F	RPS6KA1_uc010ofe.1_Silent_p.F31F|RPS6KA1_uc010off.1_Silent_p.F107F|RPS6KA1_uc001bms.1_Silent_p.F132F|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.	123	Protein kinase 1.				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)		ATCACCCATTCGTGGTGAAGC	0.567000														31			12		0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5247885	5247885	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5247885C>T	uc001mae.1	-	1	287	c.237G>A	c.(235-237)ctG>ctA	p.L79L	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	79			L -> R (in Quin-hai).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	p.L79M(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	TGAGGTTGTCCAGGTGAGCCA	0.542000									Sickle Cell Trait					109			25		0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2717932	2717932	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:2717932G>A	uc003zho.2	+	0	407	c.193G>A	c.(193-195)Gac>Aac	p.D65N		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	65						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CGAGGAGGAGGACCAGTGGAA	0.662000														52			5		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142238075	142238075	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:142238075G>A	uc002tvj.1	-	2	1205	c.233C>T	c.(232-234)cCc>cTc	p.P78L	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	78	LDL-receptor class A 2.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTGATTCAAGGGGCACTTGAT	0.408000										TSP Lung(27;0.18)				107			14		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515442	140515443	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140515442_140515443CC>TT	uc003liq.3	+	0	643_644	c.426_427CC>TT	c.(424-429)atccca>atTTca	p.P143S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	143	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.P143Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTAAAAATCCCAGAGAGCAC	0.441000														87			20		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997965	115997965	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:115997965C>T	uc003ibu.3	-	1	907	c.228G>A	c.(226-228)acG>acA	p.T76T	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	76	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CAGTAGGGTCCGTTTTGGATG	0.418000														81			41		0	0	1	0	0
TPPP3	51673	broad.mit.edu	37	16	67424131	67424131	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67424131G>A	uc002etb.3	-	3	622	c.477C>T	c.(475-477)ggC>ggT	p.G159G	TPPP3_uc002esz.3_Silent_p.G159G|TPPP3_uc002eta.3_Silent_p.G159G	NM_015964	NP_057224	Q9BW30	TPPP3_HUMAN	Homo sapiens tubulin polymerization-promoting protein family member 3 (TPPP3), mRNA.	159					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		CGCTCACGTAGCCACTGTCGT	0.627000														73			15		0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077169	19077169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:19077169G>A	uc001mph.3	-	1	869	c.781C>T	c.(781-783)Cat>Tat	p.H261Y	MRGPRX2_uc021qer.1_Missense_Mutation_p.H261Y	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	261					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GAAACTGGATGAATATGACAA	0.483000														87			34		0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24578591	24578591	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:24578591C>T	uc002dmh.3	+	14	2757	c.1717C>T	c.(1717-1719)Cct>Tct	p.P573S	RBBP6_uc010vcb.1_Missense_Mutation_p.P440S|RBBP6_uc002dmi.3_Missense_Mutation_p.P573S|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.P440S	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	573					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ccatacacttcctctccctcc	0.572000														192			18		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114289764	114289764	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:114289764G>A	uc004bff.2	+	1	313	c.89G>A	c.(88-90)aGa>aAa	p.R30K	ZNF483_uc011lwq.2_Missense_Mutation_p.R30K|ZNF483_uc004bfg.2_Missense_Mutation_p.R30K|ZNF483_uc010mud.1_Missense_Mutation_p.R30K	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	30					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GAGGTCCCAAGAGTGGTTACT	0.458000														56			41		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218683158	218683158	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:218683158G>A	uc002vgt.2	-	23	3983	c.3585C>T	c.(3583-3585)ttC>ttT	p.F1195F	TNS1_uc002vgr.2_Silent_p.F1182F|TNS1_uc002vgs.2_Silent_p.F1174F|TNS1_uc010zjv.1_Silent_p.F1174F	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1195						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCCGCCAGCCGAAGCCAGGAC	0.637000														66			37		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207642028	207642028	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207642028G>A	uc001hfw.3	+	2	721	c.602G>A	c.(601-603)gGa>gAa	p.G201E	CR2_uc001hfv.3_Missense_Mutation_p.G201E|CR2_uc009xch.3_Missense_Mutation_p.G201E|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	201	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTGTCTTCGGGAAAATGGAGT	0.418000														160			55		0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47601016	47601016	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:47601016G>A	uc001wwj.4	-	4	984	c.826C>T	c.(826-828)Cga>Tga	p.R276*	MDGA2_uc001wwi.4_5'UTR|MDGA2_uc010ani.3_5'UTR	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	207	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.V276L(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCCTGAGGTCGAAGATTCTTT	0.343000														44			19		0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158524020	158524020	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:158524020C>T	uc010jip.3	-	1	555	c.253G>A	c.(253-255)Gag>Aag	p.E85K	EBF1_uc011ddw.2_5'Flank|EBF1_uc011ddx.2_Missense_Mutation_p.E85K|EBF1_uc003lxl.4_Missense_Mutation_p.E85K	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	85					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGTCCTCTCGATCTCCACG	0.627000			T	HMGA2	lipoma									30			4		0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5545195	5545195	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:5545195G>A	uc003soo.2	-	1	179	c.85C>T	c.(85-87)Cta>Tta	p.L29L	FBXL18_uc003son.4_Silent_p.L29L	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	29	F-box.								FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GAGAACCCTAGGAGGTGGACC	0.552000														59			29		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17498204	17498204	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17498204G>A	uc001mnc.3	-	0	246	c.120C>T	c.(118-120)ctC>ctT	p.L40L	ABCC8_uc010rcy.1_Silent_p.L40L|ABCC8_uc021qej.1_Non-coding_Transcript	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	40					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGTGATGAAGAGTAGGAAGA	0.672000														26			6		0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103571339	103571339	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:103571339G>A	uc001ymk.3	+	5	1472	c.1396G>A	c.(1396-1398)Gct>Act	p.A466T		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	466										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GTTTGAAAAGGCTTTTCTGGC	0.657000											OREG0022947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			20		0	0	1	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960368	117960368	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:117960368G>A	uc004equ.3	+	3	1634	c.1161G>A	c.(1159-1161)agG>agA	p.R387R	ZCCHC12_uc022cdh.1_Silent_p.R387R	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						AGATGGAGAGGTCAAGAGTGG	0.498000														39			23		0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113565931	113565931	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113565931C>T	uc001tun.2	-	3	476	c.175G>A	c.(175-177)Gtg>Atg	p.V59M	RASAL1_uc010syp.2_Missense_Mutation_p.V59M|RASAL1_uc001tul.3_Missense_Mutation_p.V59M|RASAL1_uc001tum.2_Missense_Mutation_p.V59M|RASAL1_uc010syq.2_Missense_Mutation_p.V59M|RASAL1_uc001tuo.4_Missense_Mutation_p.V59M|RASAL1_uc010syr.2_Missense_Mutation_p.V59M	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	59	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GGCAGGTGCACCGTGTACTCC	0.617000														228			90		0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98109721	98109721	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:98109721C>T	uc011bgw.2	+	0	212	c.212C>T	c.(211-213)tCc>tTc	p.S71F		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGATGGATTCCTGCTGTTCC	0.393000														289			106		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96080179	96080179	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:96080179G>A	uc004ati.1	+	29	6764	c.6764G>A	c.(6763-6765)aGa>aAa	p.R2255K	WNK2_uc011lud.1_Intron|WNK2_uc004atj.3_Intron|WNK2_uc004atk.3_3'UTR	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	2255					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ACCGCCCGGAGAAACCAGGTG	0.682000														15			9		0	0	1	0	0
THOC6	79228	broad.mit.edu	37	16	3077236	3077236	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3077236C>T	uc002ctb.2	+	10	1061	c.765C>T	c.(763-765)ttC>ttT	p.F255F	HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Silent_p.F255F|THOC6_uc002cta.2_Silent_p.F231F	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	Homo sapiens THO complex 6 homolog (Drosophila) (THOC6), transcript variant 1, mRNA.	255					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CCACCATCTTCCCCATCCGGG	0.632000														93			25		0	0	1	0	0
C5orf22	55322	broad.mit.edu	37	5	31541450	31541450	+	Silent	SNP	C	T	T	rs142007850	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:31541450C>T	uc003jhj.4	+	5	1060	c.933C>T	c.(931-933)ttC>ttT	p.F311F	C5orf22_uc011cnw.1_Non-coding_Transcript|C5orf22_uc003jhk.4_Silent_p.F46F	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	Homo sapiens chromosome 5 open reading frame 22 (C5orf22), mRNA.	311										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						AAGCCACTTTCGCTGATTTGT	0.358000														72			7		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53201637	53201637	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53201637A>G	uc001saz.3	-	6	1359	c.1359T>C	c.(1357-1359)ctT>ctC	p.L453L		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	379						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CGGATACCTGAAGAGTCTGGC	0.577000														51			6		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28654823	28654823	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28654823C>T	uc002kwl.4	-	11	2168	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	DSC2_uc002kwk.4_Missense_Mutation_p.D572N	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	572	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GGGCTGTTATCATTCACGTCT	0.408000														32			19		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103629630	103629630	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:103629630G>A	uc022ajr.1	-	0	334	c.174C>T	c.(172-174)tcC>tcT	p.S58S	RELN_uc022ajq.1_Silent_p.S58S|RELN_uc010liz.3_Silent_p.S58S	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	58	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)		CAATATGCAGGGAAATGAGCA	0.652000														60			15		0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39895225	39895225	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:39895225G>A	uc003opb.3	-	0	231	c.93C>T	c.(91-93)ggC>ggT	p.G31G	MOCS1_uc003opa.3_Silent_p.G31G|MOCS1_uc003opd.3_Intron|MOCS1_uc003ope.3_Intron	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	29	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGAAGCATGGGCCCCTGCTAC	0.637000														11			9		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62516686	62516686	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62516686G>A	uc001dab.3	+	30	4195	c.4081G>A	c.(4081-4083)Gaa>Aaa	p.E1361K	INADL_uc009waf.1_Missense_Mutation_p.E1361K|INADL_uc001daa.2_Missense_Mutation_p.E1361K|INADL_uc001dad.3_Missense_Mutation_p.E1058K|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.E145K|INADL_uc009wag.3_Missense_Mutation_p.E145K|INADL_uc010oou.1_Missense_Mutation_p.E34K	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1361					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.V1360L(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGGCAGCGTCGAAGTTGGTAT	0.388000														36			13		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72340461	72340461	+	Missense_Mutation	SNP	G	A	A	rs141653211		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72340461G>A	uc002jkm.4	+	5	694	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	KIF19_uc002jkj.2_Missense_Mutation_p.E186K|KIF19_uc002jkk.2_Intron|KIF19_uc002jkl.2_Intron	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	186	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CGGCATCACCGAAGTCTCCAC	0.632000														25			10		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16376365	16376365	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16376365G>A	uc001axx.4	+	9	1058	c.922G>A	c.(922-924)Ggc>Agc	p.G308S	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_Missense_Mutation_p.G139S|CLCNKA_uc001axy.4_Missense_Mutation_p.G139S	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	308					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)	AATCTTCTTTGGCTTCATCAG	0.602000														139			73		0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18736157	18736157	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:18736157C>T	uc009yht.2	-	11	1736	c.1546G>A	c.(1546-1548)Gtg>Atg	p.V516M	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	516										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCGCTCTTCACTGTGGCCAGA	0.607000														53			21		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50468302	50468302	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:50468302G>A	uc003tow.4	+	7	1692	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	IKZF1_uc022acq.1_Missense_Mutation_p.E370K|IKZF1_uc003tpa.4_Missense_Mutation_p.E278K|IKZF1_uc022acr.1_Missense_Mutation_p.E288K|IKZF1_uc022acs.1_Missense_Mutation_p.E243K|IKZF1_uc022act.1_Missense_Mutation_p.E416K|IKZF1_uc022acu.1_Missense_Mutation_p.E426K|IKZF1_uc003tox.4_Missense_Mutation_p.E471K|IKZF1_uc022acv.1_Missense_Mutation_p.E374K|IKZF1_uc022acw.1_Missense_Mutation_p.E384K|IKZF1_uc022acx.1_Missense_Mutation_p.E426K|IKZF1_uc022acy.1_Missense_Mutation_p.E320K|IKZF1_uc022acz.1_Missense_Mutation_p.E330K|IKZF1_uc011kck.2_Missense_Mutation_p.E426K|IKZF1_uc003toy.4_Missense_Mutation_p.E471K|IKZF1_uc003toz.4_Missense_Mutation_p.E483K|IKZF1_uc010kyx.3_Missense_Mutation_p.E253K	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	513					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AACGCGAGGGGAGCACCGCTT	0.642000			"""D,T"""	BCL6	"""ALL, DLBCL"""									34			8		0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54776454	54776454	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:54776454C>T	uc004dtj.2	-	12	3846	c.3816G>A	c.(3814-3816)gtG>gtA	p.V1272V		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	1272					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TGCCTAGAATCACAGGCACAT	0.602000														5			17		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28149675	28149675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:28149675G>A	uc009xky.3	-	18	2998	c.2900C>T	c.(2899-2901)cCa>cTa	p.P967L	ARMC4_uc010qds.2_Missense_Mutation_p.P492L|ARMC4_uc010qdt.2_Missense_Mutation_p.P659L|ARMC4_uc001itz.3_Missense_Mutation_p.P967L	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	967							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACGCACTAGTGGAGCCACTGC	0.478000														66			27		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56087734	56087734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:56087734C>T	uc010giw.1	-	7	1516	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	CTCFL_uc010gix.1_Missense_Mutation_p.E469K|CTCFL_uc002xym.2_Missense_Mutation_p.E469K|CTCFL_uc010gjb.1_Missense_Mutation_p.E469K|CTCFL_uc010gja.1_Missense_Mutation_p.E419K|CTCFL_uc010gjc.1_Missense_Mutation_p.E469K|CTCFL_uc010gjd.1_Missense_Mutation_p.E469K|CTCFL_uc010gje.3_Missense_Mutation_p.E469K|CTCFL_uc010gjg.3_Missense_Mutation_p.E201K|CTCFL_uc010gjf.3_Missense_Mutation_p.E264K|CTCFL_uc010gjh.2_Intron|CTCFL_uc010gji.2_Missense_Mutation_p.E264K|CTCFL_uc010gjj.2_Missense_Mutation_p.E469K	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	469					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GCATAGCGTTCATGGAAGACA	0.443000														48			22		0	0	1	0	0
SNRPB	6628	broad.mit.edu	37	20	2443865	2443865	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:2443865G>A	uc002wfz.1	-	4	592	c.429C>T	c.(427-429)acC>acT	p.T143T	SNRPB_uc002wga.1_Silent_p.T143T|SNRPB_uc010zpv.2_Silent_p.T64T|SNRPB_uc002wgb.3_Silent_p.T143T|SNORD119_uc010gam.1_5'Flank	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	143					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						TTCCTTGTGGGGTCATCACCT	0.562000														41			15		0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31540583	31540583	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31540583C>T	uc011dnu.1	+	1	277	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	LTA_uc003nue.1_Silent_p.L22L|LTA_uc003nuf.3_5'Flank|LTA_uc003nuh.3_5'Flank|LTA_uc003nug.3_5'Flank|LTA_uc010jsr.3_5'Flank|TNF_uc003nui.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	22					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CCTCCTCCTTCTGGGGCTGCT	0.622000														78			24		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44575962	44575962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44575962C>T	uc003tlb.3	-	3	1803	c.1747G>A	c.(1747-1749)Gac>Aac	p.D583N	NPC1L1_uc011kbw.2_Missense_Mutation_p.D583N|NPC1L1_uc003tlc.3_Missense_Mutation_p.D583N|NPC1L1_uc003tld.3_Missense_Mutation_p.D583N	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	583					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)	AGACGGGGGTCCCCGGCAGGG	0.567000														70			28		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134144055	134144055	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:134144055G>A	uc003ytw.3	+	46	7904	c.7863_splice	c.e46-1	p.S2621_splice	TG_uc010mdw.3_Splice_Site_p.S1380_splice|TG_uc011ljb.2_Splice_Site_p.S990_splice|TG_uc011ljc.2_Splice_Site_p.S754_splice	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2621					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGTTTTCTCAGCCTGGAGCTG	0.463000														61			11		0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75015177	75015177	+	Missense_Mutation	SNP	C	T	T	rs77425771		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:75015177C>T	uc002ayp.4	-	1	384	c.262G>A	c.(262-264)Ggc>Agc	p.G88S	CYP1A1_uc010bjy.3_Missense_Mutation_p.G88S|CYP1A1_uc010bju.3_Intron|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Intron|CYP1A1_uc002ayq.4_Missense_Mutation_p.G88S|CYP1A1_uc010bjz.1_Intron|CYP1A1_uc021sqk.1_Missense_Mutation_p.G88S	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	88					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GTGTCCAGGCCGCTCAGCACC	0.617000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					67			20		0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100380631	100380631	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:100380631C>T	uc001ygr.3	+	14	1736	c.1667C>T	c.(1666-1668)cCc>cTc	p.P556L	EML1_uc010tww.2_Missense_Mutation_p.P525L|EML1_uc001ygs.3_Missense_Mutation_p.P537L	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	537			S -> P (in dbSNP:rs2250718).			cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GACTTCACACCCATTACTCAG	0.493000														72			27		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345534	92345534	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:92345534C>T	uc010tif.2	+	2	785	c.419C>T	c.(418-420)tCg>tTg	p.S140L		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	140						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCTGCTGCTTCGGTTCAGGAG	0.408000														105			94		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233486	21233486	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21233486C>T	uc002red.3	-	25	6382	c.6254G>A	c.(6253-6255)cGa>cAa	p.R2085Q		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2085	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATGGTTTGTCGATTCCTCTC	0.348000														77			21		0	0	1	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172585245	172585245	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:172585245C>T	uc002uha.1	+	13	1441	c.1276C>T	c.(1276-1278)Cat>Tat	p.H426Y	DYNC1I2_uc002uhb.1_Missense_Mutation_p.H400Y|DYNC1I2_uc010zds.1_Missense_Mutation_p.H418Y|DYNC1I2_uc002uhc.3_Missense_Mutation_p.H400Y|DYNC1I2_uc002uhe.1_Missense_Mutation_p.H426Y|DYNC1I2_uc002uhf.1_Missense_Mutation_p.H400Y|DYNC1I2_uc010zdt.1_Missense_Mutation_p.H418Y|DYNC1I2_uc002uhg.1_Missense_Mutation_p.H341Y|DYNC1I2_uc010zdu.1_Missense_Mutation_p.H149Y	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 2 (DYNC1I2), mRNA.	426					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			GGAGTTGGTTCATAAACAGTC	0.363000														16			6		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110489561	110489561	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110489561G>A	uc003yne.3	+	52	9129	c.9025G>A	c.(9025-9027)Gat>Aat	p.D3009N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3009					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TATTCTCCAGGATTGCTTTCC	0.408000										HNSCC(38;0.096)				52			19		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547321	43547321	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43547321G>A	uc002zag.1	+	17	3883	c.3883G>A	c.(3883-3885)Gac>Aac	p.D1295N	UMODL1_uc002zad.1_Missense_Mutation_p.D1095N|UMODL1_uc002zae.1_Missense_Mutation_p.D1223N|UMODL1_uc002zaf.1_Missense_Mutation_p.D1167N|UMODL1_uc002zal.1_Missense_Mutation_p.D117N|UMODL1_uc010gpa.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1167						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAACGCCCGGGACCCCATCAC	0.567000														65			16		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540967	28540967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28540967G>A	uc003nlo.3	-	3	3317	c.2699C>T	c.(2698-2700)tCa>tTa	p.S900L		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	900					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						aagttgcaatgaaaaatactt	0.333000														61			19		0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15131471	15131471	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15131471G>A	uc002nae.2	+	3	973	c.874_splice	c.e3+1	p.A292_splice		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	292					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CTATAACCCAGGTAGGAGTCC	0.602000														25			8		0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121488406	121488406	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:121488406C>T	uc003ksv.3	+	1	1097	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S	ZNF474_uc021ycy.1_Missense_Mutation_p.P241S	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	Homo sapiens zinc finger protein 474 (ZNF474), mRNA.	241						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		TATTCATGAGCCCAAATGCCT	0.527000														107			30		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127776	152127777	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152127776_152127777CC>TT	uc001ezs.1	-	2	1863_1864	c.1798_1799GG>AA	c.(1798-1800)ggg>AAg	p.G600K		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	600	Gln-rich.					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						TCCTTCAGTCCCTTGGAAGTAC	0.455000														260			100		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000301	16000301	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16000301C>T	uc002nbs.1	-	6	900	c.850G>A	c.(850-852)Gat>Aat	p.D284N	CYP4F2_uc010xot.1_Missense_Mutation_p.D135N|CYP4F2_uc010xou.1_Missense_Mutation_p.D135N	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	284					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGAAGTCATCAACACCCTGG	0.577000														127			35		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61574598	61574598	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61574598C>T	uc002jau.2	+	24	3826	c.3792C>T	c.(3790-3792)ttC>ttT	p.F1264F	ACE_uc010wpj.2_Silent_p.F649F|ACE_uc010ddv.2_Silent_p.F491F|ACE_uc002jav.2_Silent_p.F690F|ACE_uc002jaw.2_Intron|ACE_uc010wpk.2_Silent_p.F469F	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1264					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)	TGCTGCTCTTCCTGGGCATCG	0.716000														9			4		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6091073	6091073	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:6091073G>A	uc002wmr.3	-	4	1407	c.618C>T	c.(616-618)ttC>ttT	p.F206F	FERMT1_uc010gbt.3_Intron|FERMT1_uc002wms.3_Silent_p.F206F|FERMT1_uc002wmt.3_5'Flank	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	206	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GGCTGTCACTGAACCAAGTCA	0.522000														105			27		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937623	21937623	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:21937623C>T	uc010tzj.1	-	0		c.3117G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CATCGTCCTCCTCCTCTGTCA	0.498000														117			16		0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124253009	124253009	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124253009G>A	uc010sai.2	-	0	231	c.231C>T	c.(229-231)ttC>ttT	p.F77F	OR8B2_uc001qab.3_Non-coding_Transcript	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F77L(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		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;0.0277)		TTTTGGGAGTGAAAACAGAGG	0.388000														115			49		0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28118871	28118871	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:28118871G>A	uc002dpa.1	-	17	2970	c.2469C>T	c.(2467-2469)gcC>gcT	p.A823A	XPO6_uc002dpb.1_Silent_p.A809A|XPO6_uc010vcp.1_Silent_p.A823A	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	823					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTGGAAAGAGGGCCAGGGAGA	0.532000														71			26		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42231011	42231011	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:42231011G>A	uc003ose.2	-	7	2494	c.1931C>T	c.(1930-1932)cCc>cTc	p.P644L	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Intron	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	628	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.P644T(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGGCGTGCGGGGGGCAGCCCC	0.647000														56			35		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41045878	41045878	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41045878C>T	uc003jmj.4	-	17	2296	c.1806G>A	c.(1804-1806)atG>atA	p.M602I	HEATR7B2_uc003jmi.4_Missense_Mutation_p.M157I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	602							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						TGTAACTGCCCATTTGCTGTT	0.443000														167			56		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184792440	184792440	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:184792440C>T	uc001gra.3	-	7	1040	c.846G>A	c.(844-846)ctG>ctA	p.L282L	FAM129A_uc001grb.1_Silent_p.L45L|FAM129A_uc009wyh.1_Silent_p.L110L|FAM129A_uc009wyi.1_Silent_p.L80L	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	282					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GATGCTGAACCAGGGTGTAGG	0.507000														51			19		0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20736568	20736568	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:20736568C>T	uc002npa.3	-	1	257	c.77G>A	c.(76-78)cGg>cAg	p.R26Q		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	26					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						ATATAAATTCCGCTGTGCAGT	0.393000														225			19		0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35336622	35336622	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:35336622C>T	uc001mwd.3	-	2	850	c.258G>A	c.(256-258)atG>atA	p.M86I	SLC1A2_uc021qfx.1_Missense_Mutation_p.M77I|SLC1A2_uc001mwe.3_Missense_Mutation_p.M77I|SLC1A2_uc010rev.1_Missense_Mutation_p.M86I	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	86					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TTAGCATCCTCATGAGTATAT	0.493000														42			37		0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159086542	159086542	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:159086542C>T	uc003qrp.3	+	5	625	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	SYTL3_uc003qrr.3_Missense_Mutation_p.R76W|SYTL3_uc003qro.3_Missense_Mutation_p.R76W|SYTL3_uc003qrs.3_Missense_Mutation_p.R76W|SYTL3_uc011efq.2_5'UTR	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	76	RabBD.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CCTGCTGCACCGGGGCGCCGT	0.662000														2			8		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6833264	6833264	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6833264C>T	uc002mfu.1	+	15	1675	c.1578C>T	c.(1576-1578)acC>acT	p.T526T	VAV1_uc010xjh.1_Silent_p.T494T|VAV1_uc010dva.1_Silent_p.T526T|VAV1_uc002mfv.1_Silent_p.T471T	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	526					T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TTGAGGAGACCACATCCTGCA	0.498000														50			8		0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40720956	40720956	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40720956C>T	uc002ona.3	+	9	2910	c.2622C>T	c.(2620-2622)ttC>ttT	p.F874F		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	874					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCCCTGAGTTCCCAGGCCGCC	0.711000														30			9		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90504325	90504325	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:90504325G>A	uc003pnn.1	-	2	641	c.525C>T	c.(523-525)ctC>ctT	p.L175L	MDN1_uc003pnp.1_Silent_p.L175L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	175					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGCTTCTGAGGAGAGGGACAC	0.542000														41			17		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815292	43815292	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43815292G>A	uc001zrt.3	+	3	2088	c.1621G>A	c.(1621-1623)Gag>Aag	p.E541K		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	541	9 X 3 AA repeats of K-K-[DE].					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GATGAAGCGTGAGGAGAGGGC	0.552000														117			33		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881021	142881021	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142881021C>T	uc011ksw.2	+	0	510	c.510C>T	c.(508-510)ttC>ttT	p.F170F		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	170					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TTATTTCCTTCAGTCACAGCA	0.433000														59			18		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960273	73960273	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73960273T>A	uc004eby.3	-	2	4736	c.4119A>T	c.(4117-4119)acA>acT	p.T1373T		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1373					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						ACTCCTGTGGTGTCCCAGCCA	0.458000														29			43		0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502631	20502631	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20502631C>T	uc010tkz.2	-	0	287	c.287G>A	c.(286-288)gGa>gAa	p.G96E		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GGAATAACATCCCCACCATGA	0.463000														60			30		0	0	1	0	0
CCDC99	54908	broad.mit.edu	37	5	169021292	169021292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:169021292C>T	uc003mae.4	+	4	954	c.675C>T	c.(673-675)gcC>gcT	p.A225A	CCDC99_uc010jjj.3_Silent_p.A154A|CCDC99_uc011deq.2_Silent_p.A42A|CCDC99_uc010jjk.3_Intron	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.	225					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1)	25	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTATAATGCCCTAGAGGTAC	0.348000														40			13		0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58945977	58945977	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58945977G>A	uc002qst.4	-	2	1235	c.834C>T	c.(832-834)atC>atT	p.I278I		NM_003433	NP_003424	P52740	ZN132_HUMAN	Homo sapiens zinc finger protein 132 (ZNF132), mRNA.	278						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TATTACCAAGGATTGATTTCT	0.443000														74			28		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26096140	26096140	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:26096140G>A	uc002gzu.3	-	16	2161	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	NOS2_uc010wab.1_Missense_Mutation_p.R598W	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	633	Flavodoxin-like.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GCGCAGAACCGAGGGTACATG	0.607000														22			4		0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207538	58207538	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:58207538G>A	uc010rkh.2	-	0	109	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V28F(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGATGAAAAGGAAGACTATGA	0.458000														89			25		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233296076	233296076	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233296076G>A	uc001hvl.2	-	18	3705	c.3470C>T	c.(3469-3471)tCa>tTa	p.S1157L	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.	1157						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)				AATGGGGTGTGAAATCCACAT	0.443000														47			23		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189863437	189863437	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189863437G>A	uc002uqj.1	+	28	2132	c.2015G>A	c.(2014-2016)gGa>gAa	p.G672E		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	672	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGAGCTCCAGGAGGCAAGGTA	0.383000														41			21		0	0	1	0	0
GNAT2	2780	broad.mit.edu	37	1	110148694	110148694	+	Silent	SNP	G	T	T	rs140231308		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110148694G>T	uc001dya.3	-	5	831	c.618C>A	c.(616-618)tcC>tcA	p.S206S		NM_005272	NP_005263	P19087	GNAT2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 (GNAT2), mRNA.	206					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TCTTTCTCTCGGATCTCTGCC	0.502000														63			30		1.61788e-16	1.62555e-16	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5239360	5239360	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:5239360C>T	uc003jdl.3	+	14	2389	c.2251C>T	c.(2251-2253)Ctc>Ttc	p.L751F	ADAMTS16_uc003jdk.1_Missense_Mutation_p.L751F|ADAMTS16_uc010itk.1_Non-coding_Transcript	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	751	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCACAGGGGTCTCTACACCAA	0.512000														152			39		0	0	1	0	0
HAUS4	54930	broad.mit.edu	37	14	23416931	23416931	+	Missense_Mutation	SNP	G	A	A	rs138593865	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23416931G>A	uc001whw.3	-	7	967	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	HAUS4_uc001who.3_Non-coding_Transcript|HAUS4_uc001wht.3_Missense_Mutation_p.R240C|HAUS4_uc001whu.3_Missense_Mutation_p.R195C|HAUS4_uc001whv.3_Missense_Mutation_p.R116C|HAUS4_uc001whq.3_Missense_Mutation_p.R114C	NM_001166269	NP_060285	Q9H6D7	HAUS4_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 4 (HAUS4), transcript variant 1, mRNA.	240					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						GTGAGGCAGCGGAGAAGCACC	0.507000														76			27		0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31521797	31521797	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31521797C>T	uc003aju.4	+	1	1164	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C	INPP5J_uc010gwf.3_Missense_Mutation_p.R358C|INPP5J_uc003ajw.3_Intron|INPP5J_uc003ajt.4_Intron|INPP5J_uc003ajv.4_Intron|INPP5J_uc003ajs.4_Intron|INPP5J_uc011alk.2_Missense_Mutation_p.R291C|INPP5J_uc010gwg.3_Intron	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	358	Pro-rich.					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CTCCCCGAATCGCTCTCCCTG	0.687000														10			4		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849489	73849489	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:73849489C>T	uc003xzb.3	+	2	2487	c.1899C>T	c.(1897-1899)ttC>ttT	p.F633F		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	633					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)			AGATGAAGTTCCCAACCGACC	0.607000														114			40		0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207196183	207196183	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207196183C>T	uc001hfd.2	-	3	1185	c.926G>A	c.(925-927)aGc>aAc	p.S309N	C1orf116_uc009xcb.1_Missense_Mutation_p.S63N|C1orf116_uc021pii.1_Missense_Mutation_p.S63N	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	309						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GCTTCGGCTGCTCTTCAGAAC	0.587000														50			28		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61941141	61941141	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61941141C>T	uc001jky.3	-	17	2468	c.2130G>A	c.(2128-2130)gtG>gtA	p.V710V	ANK3_uc010qih.2_Silent_p.V693V|ANK3_uc001jkz.4_Silent_p.V704V|ANK3_uc001jlb.1_Silent_p.V239V|ANK3_uc001jlc.1_Silent_p.V371V	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	710					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						CTGCCACATTCACTCGATCTT	0.517000														103			45		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54556509	54556509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54556509G>A	uc021smr.1	+	6	3586	c.3586G>A	c.(3586-3588)Gaa>Aaa	p.E1196K	UNC13C_uc021sms.1_Missense_Mutation_p.E1198K|UNC13C_uc002acl.3_Missense_Mutation_p.E28K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1198					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.I1195I(1)		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)		GATTTCTAAAGAAGATTTTGT	0.373000														10			6		0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76627229	76627229	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:76627229C>T	uc003kfa.3	+	4	698	c.653C>T	c.(652-654)tCg>tTg	p.S218L	PDE8B_uc003kfd.3_Missense_Mutation_p.S218L|PDE8B_uc003kfe.3_Missense_Mutation_p.S218L|PDE8B_uc003kfb.3_Missense_Mutation_p.S198L|PDE8B_uc003kfc.3_Missense_Mutation_p.S218L	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	218					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TGCTGCAGATCGGATGACCAT	0.502000														166			44		0	0	1	0	0
VASH1	22846	broad.mit.edu	37	14	77229182	77229182	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:77229182G>A	uc001xst.2	+	0	948	c.18G>A	c.(16-18)aaG>aaA	p.K6K	VASH1_uc001xss.3_Silent_p.K6K	NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	Homo sapiens vasohibin 1 (VASH1), mRNA.	6					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GGGGGAAGAAGGTGGCTGGGG	0.652000														4			6		0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44770423	44770423	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:44770423C>T	uc001rod.3	+	6	880	c.814C>T	c.(814-816)Cct>Tct	p.P272S	TMEM117_uc001roe.3_Missense_Mutation_p.P168S|TMEM117_uc009zkc.3_Intron	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	Homo sapiens transmembrane protein 117 (TMEM117), mRNA.	272						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TGTAAATCTCCCTGGTTTGCA	0.388000														146			41		0	0	1	0	0
ZNF18	7566	broad.mit.edu	37	17	11881712	11881712	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11881712G>A	uc002gng.1	-	8	1817	c.1212C>T	c.(1210-1212)gcC>gcT	p.A404A	ZNF18_uc002gnh.1_Silent_p.A404A|ZNF18_uc002gni.1_Silent_p.A403A	NM_144680	NP_653281	P17022	ZNF18_HUMAN	Homo sapiens zinc finger protein 18 (ZNF18), mRNA.	404					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GGAGCTTCTGGGCCATGGGGG	0.507000														64			6		0	0	1	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74700994	74700994	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:74700994G>A	uc001jtf.1	-	2	466	c.399C>T	c.(397-399)ttC>ttT	p.F133F	PLA2G12B_uc009xqt.1_Silent_p.F43F|PLA2G12B_uc010qjz.1_Silent_p.F133F	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	Homo sapiens phospholipase A2, group XIIB (PLA2G12B), mRNA.	133					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					GACACCATCGGAATTTTGCAT	0.502000														158			41		0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72862917	72862917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72862917G>A	uc010wrl.2	-	2	475	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S	FDXR_uc010wri.2_Missense_Mutation_p.P35S|FDXR_uc010wrj.2_Missense_Mutation_p.P85S|FDXR_uc002jlw.3_5'UTR|FDXR_uc002jlx.3_Missense_Mutation_p.P87S|FDXR_uc002jly.3_Missense_Mutation_p.P87S|FDXR_uc010wrk.2_Missense_Mutation_p.P118S|FDXR_uc010wrm.2_Missense_Mutation_p.P88S|FDXR_uc002jlz.3_Missense_Mutation_p.P87S|FDXR_uc002jmb.3_Non-coding_Transcript	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	87					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					TTCACCTCGGGGTGATCAGGC	0.632000														33			14		0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39325115	39325115	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:39325115C>T	uc003oot.2	-	18	2213	c.2118G>A	c.(2116-2118)acG>acA	p.T706T	KIF6_uc003oos.2_Silent_p.T157T|KIF6_uc010jwz.1_Silent_p.T81T|KIF6_uc010jxa.1_Silent_p.T497T|KIF6_uc011dua.1_Silent_p.T689T|KIF6_uc010jxb.1_Silent_p.T650T	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	706					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GAAATGGCTTCGTGTGATCGA	0.458000														91			38		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46835200	46835200	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:46835200G>A	uc003bhw.1	-	2	4292	c.4292C>T	c.(4291-4293)cCt>cTt	p.P1431L		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1431	EGF-like 3; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTCGCCAGGAGGACACACGCA	0.647000														68			7		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203681213	203681213	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203681213C>T	uc001gzw.3	+	12	3054	c.2157C>T	c.(2155-2157)ttC>ttT	p.F719F	ATP2B4_uc001gzv.3_Silent_p.F719F|ATP2B4_uc009xaq.3_Silent_p.F719F	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	719					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGATGACTTCCTGTGCTTAG	0.532000														91			27		0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45375207	45375207	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45375207C>T	uc002ozw.1	+	2	966	c.576C>T	c.(574-576)gcC>gcT	p.A192A	PVRL2_uc002ozv.3_Silent_p.A192A	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.	192	Ig-like C2-type 1.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GCCCACCTGCCCGGATCTCCT	0.622000														30			14		0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46474037	46474037	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:46474037C>T	uc001cov.3	+	8	1255	c.972C>T	c.(970-972)ttC>ttT	p.F324F	MAST2_uc001cow.3_Silent_p.F324F|MAST2_uc001coy.1_Silent_p.F32F|MAST2_uc001coz.1_Silent_p.F209F|MAST2_uc009vya.3_Silent_p.F246F|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	324					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)					AAGAAAGATTCCCAAAGGTAA	0.428000														41			11		0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11567934	11567934	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11567934C>T	uc002mry.1	-	5	1123	c.743G>A	c.(742-744)gGc>gAc	p.G248D	ELAVL3_uc002mrx.1_Missense_Mutation_p.G248D	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	248				G -> A (in Ref. 4; BAA21838).	cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCTCTTGACGCCGTAGGCCAT	0.647000														15			3		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45392370	45392370	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45392370C>T	uc001zun.3	-	23	3265	c.3062G>A	c.(3061-3063)cGa>cAa	p.R1021Q	DUOX2_uc010bea.3_Missense_Mutation_p.R1021Q	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1021	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TAGGAAGCCTCGCTGCATCTT	0.597000														46			9		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370099	240370099	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240370099G>A	uc010pye.2	+	6	2224	c.1999_splice	c.e6-1	p.E667_splice	FMN2_uc010pyd.2_Splice_Site_p.E663_splice	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	663					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.E806K(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGCCCTTCAGGAAGTTGTTGA	0.393000														38			9		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36751979	36751979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:36751979C>T	uc001cae.4	+	3	372	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C	THRAP3_uc001caf.4_Missense_Mutation_p.R50C|THRAP3_uc001cag.1_Missense_Mutation_p.R50C	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	50	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTCTAGGTCTCGTTCCAGATC	0.398000			T	USP6	aneurysmal bone cysts									93			50		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157485638	157485638	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157485638C>T	uc009wsm.3	-	15	2986	c.2828G>A	c.(2827-2829)gGa>gAa	p.G943E	FCRL5_uc001fqu.3_Silent_p.R946R	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	0						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TCACCTTGTTCCTGAGATGCC	0.602000														55			26		0	0	1	0	0
PEX13	5194	broad.mit.edu	37	2	61275754	61275754	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:61275754C>T	uc002sau.4	+	3	1144	c.1061C>T	c.(1060-1062)tCt>tTt	p.S354F		NM_002618	NP_002609	Q92968	PEX13_HUMAN	Homo sapiens peroxisomal biogenesis factor 13 (PEX13), mRNA.	354					cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			CAGCAACAATCTTTTACCAAC	0.383000														99			27		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73615104	73615104	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:73615104C>T	uc002avp.3	-	7	4324	c.3330G>A	c.(3328-3330)ggG>ggA	p.G1110G		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	1110					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCATGGACTCCCCTGAGGAGT	0.721000														4			4		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77607174	77607174	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:77607174G>A	uc011bgk.2	+	9	1966	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L	ROBO2_uc021xat.1_Silent_p.L453L|ROBO2_uc003dpy.4_Silent_p.L437L|ROBO2_uc003dpz.3_Silent_p.L441L|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	437	Ig-like C2-type 5.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAGCGTTACTGAAATGTAAAG	0.438000														77			39		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121262978	121262978	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:121262978G>A	uc003yox.3	+	21	2990	c.2725G>A	c.(2725-2727)Gac>Aac	p.D909N	COL14A1_uc003yoy.3_Missense_Mutation_p.D587N	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	909	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGGCTTCAGCGACGCCCTGAC	0.478000														47			10		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76491047	76491047	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76491047C>T	uc010dhp.2	-	38	6161	c.6036G>A	c.(6034-6036)tcG>tcA	p.S2012S	AK127460_uc002jvt.1_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACACCTGCTTCGAGAGCAGCT	0.597000														19			6		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170030438	170030438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170030438C>T	uc002ues.3	-	55	11218	c.11005G>A	c.(11005-11007)Gaa>Aaa	p.E3669K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3669	LDL-receptor class A 29.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTGCATTCTTCAATGGGCTCA	0.557000														87			37		0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67304727	67304727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67304727G>A	uc002esm.3	+	15	2368	c.2305G>A	c.(2305-2307)Ggg>Agg	p.G769R	SLC9A5_uc010cee.3_Missense_Mutation_p.G474R|SLC9A5_uc010vji.2_Missense_Mutation_p.G273R	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	769					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GAGTGGGCAGGGGGACCTGGC	0.597000														50			16		0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114057955	114057955	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:114057955G>A	uc003ebi.3	-	4	2303	c.2123C>T	c.(2122-2124)gCc>gTc	p.A708V	ZBTB20_uc003ebj.3_Missense_Mutation_p.A635V|ZBTB20_uc010hqp.3_Missense_Mutation_p.A635V|ZBTB20_uc003ebk.3_Missense_Mutation_p.A635V|ZBTB20_uc003ebl.3_Missense_Mutation_p.A635V|ZBTB20_uc003ebm.3_Missense_Mutation_p.A635V|ZBTB20_uc003ebn.3_Missense_Mutation_p.A635V	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTCCGTGCAGGCCACCACGCC	0.647000														55			28		0	0	1	0	0
CLDN4	1364	broad.mit.edu	37	7	73246037	73246037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:73246037C>T	uc003tzi.4	+	0	845	c.506C>T	c.(505-507)gCc>gTc	p.A169V	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	169					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GTCGGCTGGGCCGCCTCCGGC	0.642000														56			16		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93148220	93148220	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:93148220G>A	uc001pdq.3	+	12	1678	c.1578G>A	c.(1576-1578)tcG>tcA	p.S526S	CCDC67_uc001pdo.1_Silent_p.S526S	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	526										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TGCCACCTTCGACATTTCAAG	0.413000														84			23		0	0	1	0	0
GOLT1A	127845	broad.mit.edu	37	1	204172074	204172074	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204172074G>A	uc001has.1	-	1	253	c.67C>T	c.(67-69)Ctc>Ttc	p.L23F	GOLT1A_uc001hat.1_Missense_Mutation_p.L23F	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	Homo sapiens golgi transport 1A (GOLT1A), mRNA.	23					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			GTTCCAAAGAGGATGAAGAAG	0.567000														51			18		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20329750	20329750	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20329750G>A	uc002dgv.3	-	7	1102	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	GP2_uc002dgw.3_Missense_Mutation_p.S337F|GP2_uc002dgx.3_Missense_Mutation_p.S193F|GP2_uc002dgy.3_Missense_Mutation_p.S190F	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	340	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GACGTTCAGGGAACTGAGAAA	0.468000														95			37		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178557010	178557010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178557010C>T	uc003mjw.3	-	15	2482	c.2380G>A	c.(2380-2382)Gag>Aag	p.E794K		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	794	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TACTCCCACTCCACGCCCATG	0.582000														62			20		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36895318	36895318	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:36895318C>T	uc022abv.1	-	21	2732	c.2022G>A	c.(2020-2022)ggG>ggA	p.G674G	ELMO1_uc003tfi.2_Silent_p.G194G|ELMO1_uc003tfj.2_Silent_p.G194G|ELMO1_uc011kbb.2_Non-coding_Transcript|ELMO1_uc011kbc.2_Silent_p.G578G|ELMO1_uc003tfk.2_Silent_p.G674G|ELMO1_uc010kxg.2_Silent_p.G674G	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	674	PH.				Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.G674W(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCATGTCCTTCCCGAGTAGCG	0.517000														105			34		0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975793	152975793	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152975793C>T	uc021ozo.1	+	0	297	c.297C>T	c.(295-297)acC>acT	p.T99T	SPRR3_uc001fax.4_Silent_p.T99T|SPRR3_uc001faz.4_Silent_p.T99T|SPRR3_uc001fay.2_Silent_p.T91T	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	99	14 X 8 AA approximate tandem repeats.		Missing.		keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGTTGTACCAAGGTCCCTG	0.582000														55			7		0	0	1	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159605610	159605610	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:159605610G>A	uc003fcq.2	+	7	1519	c.1338G>A	c.(1336-1338)atG>atA	p.M446I	IQCJ-SCHIP1_uc003fcr.2_Missense_Mutation_p.M419I|IQCJ-SCHIP1_uc003fcs.2_Missense_Mutation_p.M370I|IQCJ-SCHIP1_uc003fct.2_Missense_Mutation_p.M357I|IQCJ-SCHIP1_uc021xgm.1_Missense_Mutation_p.M138I|IQCJ-SCHIP1_uc010hvz.1_Missense_Mutation_p.M330I|IQCJ-SCHIP1_uc003fcu.2_Missense_Mutation_p.M127I	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	370						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AAGCCAAAATGGCCCTTGCCA	0.453000														101			35		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130287	45130287	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:45130287C>T	uc002xsa.3	-	3	2222	c.1760G>A	c.(1759-1761)aGa>aAa	p.R587K	ZNF334_uc002xsb.3_Missense_Mutation_p.R526K|ZNF334_uc002xsd.3_Missense_Mutation_p.R526K|ZNF334_uc002xsc.3_Missense_Mutation_p.R564K|ZNF334_uc010ghl.3_Missense_Mutation_p.R563K			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTGTGTGTTCTCTGATGGTG	0.463000														156			59		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726872	63726872	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:63726872G>A	uc003tsx.3	+	4	1130	c.861G>A	c.(859-861)aaG>aaA	p.K287K		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CTAACCACAAGAGAATTCATA	0.428000														52			24		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15415903	15415903	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:15415903G>A	uc002rcc.1	-	43	5455	c.5429C>T	c.(5428-5430)cCt>cTt	p.P1810L	NBAS_uc010exl.1_Missense_Mutation_p.P882L|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1810										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGCTTCAAGAGGACTCATGTT	0.368000														77			19		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215807692	215807692	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:215807692C>T	uc002vew.3	-	49	7613	c.7393G>A	c.(7393-7395)Gga>Aga	p.G2465R	ABCA12_uc002vev.3_Missense_Mutation_p.G2147R|ABCA12_uc010zjn.2_Missense_Mutation_p.G1392R	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2465	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGAAACTTTCCATTCACCATA	0.398000														50			24		0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45878105	45878105	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:45878105G>A	uc001jce.3	+	1	424	c.325G>A	c.(325-327)Gag>Aag	p.E109K	ALOX5_uc009xmt.3_Missense_Mutation_p.E109K|ALOX5_uc010qfg.2_Missense_Mutation_p.E109K|ALOX5_uc021ppr.1_Missense_Mutation_p.E109K	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	109	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CGGCGATGTCGAGGTTGTCCT	0.592000														11			3		0	0	1	0	0
TEX13B	56156	broad.mit.edu	37	X	107224759	107224759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:107224759C>T	uc004enn.1	-	2	583	c.490G>A	c.(490-492)Gct>Act	p.A164T		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	Homo sapiens testis expressed 13B (TEX13B), mRNA.	164										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						AACACTGTAGCCTGGCCCTGT	0.642000														48			58		0	0	1	0	0
HS3ST6	64711	broad.mit.edu	37	16	1962130	1962130	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1962130G>A	uc002cnf.3	-	1	397	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	133										endometrium(2)|lung(2)	4						ATGCGGCGGGGGGCCTCTCGC	0.662000														9			9		0	0	1	0	0
LSAMP	4045	broad.mit.edu	37	3	115805287	115805287	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:115805287G>A	uc011bis.2	-	1	779	c.272C>T	c.(271-273)tCt>tTt	p.S91F	LSAMP_uc003ebs.3_Missense_Mutation_p.S91F	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA.	91	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GTATTCCAGAGAATGGCGTTT	0.507000														72			17		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7984041	7984041	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7984041G>A	uc002gjy.1	-	4	846	c.585C>T	c.(583-585)ttC>ttT	p.F195F	BC046191_uc010cnq.2_Non-coding_Transcript	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	195	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TTAAGTTCAGGAACTTGGTGG	0.577000										Multiple Myeloma(8;0.094)	OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			24		0	0	1	0	0
AKR1E2	83592	broad.mit.edu	37	10	4883992	4883992	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:4883992G>A	uc001ihi.3	+	6	811	c.696G>A	c.(694-696)ctG>ctA	p.L232L	AKR1E2_uc010qam.1_Intron|AKR1E2_uc001ihh.1_Intron|AKR1E2_uc001ihj.3_Non-coding_Transcript|AKR1E2_uc001ihk.3_Intron|AKR1E2_uc009xhw.3_Intron	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	Homo sapiens aldo-keto reductase family 1, member E2 (AKR1E2), mRNA.	232						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						GGGTTGACCTGATAGACAACC	0.517000														23			9		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15809077	15809077	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:15809077C>T	uc002ddx.3	-	39	5685	c.5578G>A	c.(5578-5580)Gaa>Aaa	p.E1860K	MYH11_uc002ddv.3_Missense_Mutation_p.E1860K|MYH11_uc002ddw.3_Missense_Mutation_p.E1853K|MYH11_uc002ddy.3_Missense_Mutation_p.E1853K|MYH11_uc010bvg.3_Missense_Mutation_p.E1685K|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.E559K	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1853					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGCAAGATTTCCTTCAGCTTC	0.607000			T	CBFB	AML									69			31		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106791008	106791008	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106791008C>T	uc021ser.1	-	619		c.17384G>A								Parts of antibodies, mostly variable regions.																		CTGTGTCTCTCGCACAGTAAT	0.562000														551			73		0	0	1	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292792	4292793	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4292792_4292793CC>TT	uc002lzx.2	-	4	698_699	c.652_653GG>AA	c.(652-654)ggc>AAc	p.G218N	TMIGD2_uc021umz.1_Missense_Mutation_p.A102T|TMIGD2_uc021una.1_Missense_Mutation_p.A50T|TMIGD2_uc010dtv.2_Missense_Mutation_p.G214N	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	218						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AATGCTCTGGCCCCTCTGGTCC	0.644000														88			23		0	0	1	0	0
AV2S1A1	0	broad.mit.edu	37	14	22356412	22356412	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22356412G>A	uc021rph.1	+	1	175	c.73G>A	c.(73-75)Gag>Aag	p.E25K	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Missense_Mutation_p.E25K|AV2S1A1_uc021rpi.1_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 117-2.																		CCAACAGAAGGAGGTGGAGCA	0.498000														58			18		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49690103	49690103	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49690103G>A	uc003cxe.4	+	4	3228	c.3114G>A	c.(3112-3114)gaG>gaA	p.E1038E		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1038					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCACCATCGAGGACTCCTCAG	0.662000														26			17		0	0	1	0	0
DDX54	79039	broad.mit.edu	37	12	113612944	113612944	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113612944G>A	uc001tuq.4	-	7	799	c.771C>T	c.(769-771)ttC>ttT	p.F257F	DDX54_uc001tup.3_Silent_p.F257F	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	257	Helicase ATP-binding.				RNA processing|estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|estrogen receptor binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTGCTCTGCGAAACCCATTT	0.627000											OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			10		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186445088	186445088	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:186445088G>A	uc011bsa.2	+	4	861	c.627G>A	c.(625-627)gaG>gaA	p.E209E	KNG1_uc003fqr.3_Silent_p.E209E|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	209	Cystatin 2.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GTTCCAAAGAGAATTTTCTGT	0.343000														107			10		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128365332	128365332	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:128365332G>A	uc003kuy.3	+	9	2011	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K	SLC27A6_uc003kuz.3_Missense_Mutation_p.E539K	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	539					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTTAGATTTGGAAAAAGTTTA	0.303000														43			22		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62144067	62144067	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62144067G>A	uc002jdz.2	-	7	919	c.806C>T	c.(805-807)cCg>cTg	p.P269L		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	269					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CTTGGGGAACGGGTACTTCCA	0.592000														29			16		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8331622	8331622	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:8331622C>T	uc003zkk.3	-	43	6237	c.5494G>A	c.(5494-5496)Gaa>Aaa	p.E1832K	PTPRD_uc003zkp.3_Missense_Mutation_p.E1426K|PTPRD_uc003zkq.3_Missense_Mutation_p.E1425K|PTPRD_uc003zkr.3_Missense_Mutation_p.E1416K|PTPRD_uc003zks.3_Missense_Mutation_p.E1425K|PTPRD_uc022bdj.1_Missense_Mutation_p.E1422K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1832	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAAACTGTTCTTTTGTTTTA	0.433000										TSP Lung(15;0.13)				63			33		0	0	1	0	0
C7orf26	79034	broad.mit.edu	37	7	6641744	6641744	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:6641744C>T	uc003sqo.1	+	4	1121	c.1121C>T	c.(1120-1122)aCc>aTc	p.T374I	C7orf26_uc003sqp.1_Missense_Mutation_p.T277I	NM_024067	NP_076972	Q96N11	CG026_HUMAN	Homo sapiens chromosome 7 open reading frame 26 (C7orf26), mRNA.	374										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GACCTGAGAACCTTGTGCTCC	0.502000											OREG0017863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			33		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509866	228509866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228509866C>T	uc009xez.1	+	54	15368	c.15324C>T	c.(15322-15324)gcC>gcT	p.A5108A	OBSCN_uc001hsn.3_Silent_p.A5108A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5108					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGACTCCTGCCCCTGTGGTGC	0.602000														19			10		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103180703	103180703	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:103180703G>A	uc022ajr.1	-	43	7031	c.6871C>T	c.(6871-6873)Ctt>Ttt	p.L2291F	RELN_uc022ajq.1_Missense_Mutation_p.L2291F|RELN_uc010liz.3_Missense_Mutation_p.L2291F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2291					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	p.L2291F(2)		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)		CACCAGCGAAGGCGAGTAGAA	0.498000														94			34		0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45475275	45475276	+	Silent	DNP	CC	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:45475275_45475276CC>TA	uc001wvw.3	+	4	2918_2919	c.2709_2710CC>TA	c.(2707-2712)tcccga>tcTAga	p.903_904SR>SR	FAM179B_uc001wvv.3_Silent_p.903_904SR>SR|FAM179B_uc010anc.3_Non-coding_Transcript|FAM179B_uc001wvu.3_Silent_p.903_904SR>SR	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	903							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CGCCATCTTCCCGACGAGGTCT	0.416000														146			42		0	0	1	0	0
ZNF823	55552	broad.mit.edu	37	19	11833307	11833307	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11833307G>A	uc002msm.2	-	3	1168	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	ZNF823_uc010xmd.1_Nonsense_Mutation_p.R166*|ZNF823_uc010dyi.1_Nonsense_Mutation_p.R304*	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	Homo sapiens zinc finger protein 823 (ZNF823), mRNA.	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R348*(3)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TCATGATTTCGAACTGAACTA	0.418000										HNSCC(68;0.2)				155			20		0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56030715	56030715	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56030715C>T	uc010spq.2	+	0	40	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TGAATTCCTCCTTCTGGGATT	0.522000														88			42		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784984	9784985	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:9784984_9784985CC>TT	uc003gmb.4	+	0	1727_1728	c.1331_1332CC>TT	c.(1330-1332)tcc>tTT	p.S444F		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	444					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TATCAGACGTCCCCAGATGGTG	0.545000														55			30		0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188202397	188202397	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:188202397C>T	uc003frs.2	+	3	457	c.211C>T	c.(211-213)Cca>Tca	p.P71S	LPP_uc011bsg.2_Missense_Mutation_p.P71S|LPP_uc011bsi.2_Missense_Mutation_p.P71S|LPP_uc003frt.3_Missense_Mutation_p.P71S	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	71	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TCTTCCACCCCCACCTCCACC	0.413000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""									157			51		0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242812010	242812010	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242812010G>A	uc010fzu.1	+	0	125	c.102G>A	c.(100-102)ctG>ctA	p.L34L		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	34						integral to membrane											AGCACAGCCTGGTCCCGGGAT	0.682000														9			7		0	0	1	0	0
SUOX	6821	broad.mit.edu	37	12	56396389	56396389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56396389C>T	uc001six.3	+	4	439	c.113C>T	c.(112-114)cCc>cTc	p.P38L	SUOX_uc009zoh.3_Missense_Mutation_p.P38L|SUOX_uc001siy.3_Missense_Mutation_p.P38L|SUOX_uc001siz.3_Missense_Mutation_p.P38L|SUOX_uc001sja.3_Missense_Mutation_p.P38L	NM_000456	NP_001027559	P51687	SUOX_HUMAN	Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	38						mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			TCATTTCAGCCCCAGCGCCCC	0.537000														128			51		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	95019472	95019472	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:95019472G>A	uc003unt.3	-	2	220	c.195C>T	c.(193-195)atC>atT	p.I65I	PON1_uc011kih.2_Intron|PON1_uc011kii.2_Silent_p.I65I	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	65					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TCACACTGGAGATAAAAGCCA	0.403000														287			99		0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91198420	91198420	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:91198420G>A	uc001kgm.3	-	5	1270	c.969C>T	c.(967-969)tcC>tcT	p.S323S	SLC16A12_uc001kgl.3_5'Flank	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	293						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						CTCCAAGTATGGACATAAGAA	0.443000														98			22		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120474738	120474738	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:120474738G>A	uc004bjz.3	+	2	623	c.332G>A	c.(331-333)gGa>gAa	p.G111E	TLR4_uc004bkb.3_5'UTR|TLR4_uc004bka.3_Missense_Mutation_p.G71E	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	111					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.G111*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATATTGACAGGAAACCCCATC	0.433000														48			18		0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223226	35223226	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:35223226G>A	uc001bxu.3	+	1	395	c.295G>A	c.(295-297)Gag>Aag	p.E99K	GJB5_uc021okz.1_Missense_Mutation_p.E99K|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	99					cell communication|epidermis development	connexon complex|integral to membrane		p.R98W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				GGCCTACCGGGAGGTTCAGGA	0.612000														77			26		0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214556972	214556972	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:214556972G>A	uc001hkk.2	-	12	2879	c.2226C>T	c.(2224-2226)gcC>gcT	p.A742A	PTPN14_uc021piy.1_Silent_p.A506A|PTPN14_uc010pty.2_Silent_p.A643A	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	742					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGGGGATGCGGGCCAGGGCCG	0.652000														47			21		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936693	4936693	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4936693G>A	uc001lzr.1	-	0	201	c.201C>T	c.(199-201)ttC>ttT	p.F67F		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATGGACAGGAAGAGATACA	0.478000														40			18		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168114084	168114084	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:168114084C>T	uc010jjg.3	-	29	3655	c.3235G>A	c.(3235-3237)Gag>Aag	p.E1079K	SLIT3_uc003mab.3_Missense_Mutation_p.E1072K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1072	EGF-like 5.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGTCTGTCTCACAGAGCTTC	0.597000														33			20		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34888123	34888123	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:34888123C>T	uc003teh.1	+	7	1001	c.873C>T	c.(871-873)ttC>ttT	p.F291F	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.F291F|NPSR1_uc010kwt.1_Silent_p.F138F|NPSR1_uc010kwu.1_Silent_p.F81F|NPSR1_uc010kwv.1_Silent_p.F225F|NPSR1_uc003tei.1_Silent_p.F291F|NPSR1_uc010kww.1_Silent_p.F280F|NPSR1_uc011kar.1_Silent_p.F225F	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	291						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GTCCATACTTCCTGTTTGACA	0.493000														272			103		0	0	1	0	0
NR2F1	7025	broad.mit.edu	37	5	92923983	92923983	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:92923983C>T	uc003kkj.3	+	1	2511	c.824C>T	c.(823-825)cCg>cTg	p.P275L	NR2F1_uc021ybj.1_Missense_Mutation_p.P224L|NR2F1_uc021ybk.1_Missense_Mutation_p.P250L	NM_005654	NP_005645	P10589	COT1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA.	275					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CACGTGGCGCCGTTGCTGGCC	0.662000														59			23		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665909	19665909	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:19665909G>A	uc002wrl.3	+	11	1425	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	410						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTGGCAACGAAACAgagaa	0.537000														44			20		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54722248	54722248	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54722248C>T	uc010erh.1	-	11	1750	c.1626G>A	c.(1624-1626)agG>agA	p.R542R	LILRB3_uc002qee.1_Silent_p.R525R|LILRB3_uc002qef.1_Silent_p.R525R|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Silent_p.R525R|LILRB3_uc002qeh.1_Silent_p.R525R|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Silent_p.R525R|LILRB3_uc002qek.1_Silent_p.R525R|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Silent_p.R525R|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Silent_p.R525R|LILRB3_uc002qep.1_Silent_p.R525R|LILRB3_uc002qeq.1_Silent_p.R525R	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	525					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAGCTCCACCCTGTCCTCAG	0.617000														76			18		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6759682	6759682	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:6759682G>A	uc002wmu.1	+	2	1922	c.1137G>A	c.(1135-1137)aaG>aaA	p.K379K		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	379					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	AGAATGAAAAGGTTGTATTAA	0.373000														44			19		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3907853	3907853	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3907853G>A	uc010xhz.2	+	5	981	c.498G>A	c.(496-498)ggG>ggA	p.G166G	ATCAY_uc002lyy.4_Silent_p.G160G|ATCAY_uc010dts.3_5'Flank			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	160					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)		TGATCATCGGGGAGCAAGAGC	0.657000														41			23		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42327846	42327846	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:42327846C>T	uc002igf.4	-	19	2865	c.2716G>A	c.(2716-2718)Gaa>Aaa	p.E906K	SLC4A1_uc021tyc.1_Missense_Mutation_p.E540K	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	906	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ATGGCCACTTCGTCGTATTCA	0.597000														21			17		0	0	1	0	0
CXCR7	57007	broad.mit.edu	37	2	237489273	237489273	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:237489273C>T	uc021vys.1	+	0	165	c.165C>T	c.(163-165)ttC>ttT	p.F55F	CXCR7_uc010fyq.3_Silent_p.F55F|CXCR7_uc002vwd.3_Silent_p.F55F	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	55					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		TTTTCATCTTCGTCATCGGCA	0.522000														22			4		0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68873164	68873164	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:68873164G>A	uc010yqj.2	+	0	371	c.211G>A	c.(211-213)Ggc>Agc	p.G71S	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	71						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GGCCCTGGTGGGCATCATGCT	0.517000														187			19		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526305	176526305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176526305C>T	uc001gkz.3	+	1	2011	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S	PAPPA2_uc001gky.1_Missense_Mutation_p.P283S|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	283					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCTGAGATTCCCCGGGAGGC	0.567000														26			11		0	0	1	0	0
SLC35C2	51006	broad.mit.edu	37	20	44986361	44986361	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44986361G>A	uc010zxp.2	-	3	352	c.259C>T	c.(259-261)Ctc>Ttc	p.L87F	SLC35C2_uc002xro.3_Missense_Mutation_p.L58F|SLC35C2_uc002xrp.3_Missense_Mutation_p.L58F|SLC35C2_uc002xrq.3_Missense_Mutation_p.L58F|SLC35C2_uc002xrr.3_Missense_Mutation_p.L58F|SLC35C2_uc010zxn.2_Intron|SLC35C2_uc010zxo.2_Intron	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	58					transport	integral to membrane		p.R86I(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				GCGGAGAAGAGGAAGATCACG	0.617000														58			18		0	0	1	0	0
KLRG1	10219	broad.mit.edu	37	12	9144893	9144893	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:9144893G>A	uc001qvh.3	+	1	185	c.174G>A	c.(172-174)tgG>tgA	p.W58*	KLRG1_uc001qvg.3_Nonsense_Mutation_p.W58*	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 1 (KLRG1), mRNA.	58			W -> R (in dbSNP:rs1805749).		cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						TATACCAGTGGATCCTGTGCC	0.388000														170			78		0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72407608	72407608	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:72407608G>A	uc001osu.3	-	22	3447	c.3258C>T	c.(3256-3258)atC>atT	p.I1086I	ARAP1_uc001osv.3_Silent_p.I1086I|ARAP1_uc001osr.3_Silent_p.I846I|ARAP1_uc001oss.3_Silent_p.I841I|ARAP1_uc009yth.3_Silent_p.I780I|ARAP1_uc010rre.2_Silent_p.I841I	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	1086	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						ACAGGTGGCTGATAAGGGCCT	0.602000														46			14		0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65124002	65124002	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65124002C>T	uc021qlj.1	+	0	723	c.723C>T	c.(721-723)atC>atT	p.I241I	TIGD3_uc001odo.4_Silent_p.I241I	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	241	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						ACCTGGGCATCCCCTGGTTAG	0.657000														133			35		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71016297	71016297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:71016297C>T	uc001swc.4	-	2	626	c.581G>A	c.(580-582)aGa>aAa	p.R194K	PTPRB_uc001swa.4_Missense_Mutation_p.R194K|PTPRB_uc001swd.4_Missense_Mutation_p.R193K|PTPRB_uc009zrr.2_Missense_Mutation_p.R73K|PTPRB_uc001swe.3_Missense_Mutation_p.R194K	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGCAGCATTTCTGATGAAGGC	0.468000														24			7		0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132061443	132061443	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:132061443C>T	uc010htp.2	+	5	693	c.603C>T	c.(601-603)gaC>gaT	p.D201D	ACPP_uc003eon.3_Silent_p.D168D|ACPP_uc003eop.4_Silent_p.D201D	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	201						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ATGGCCAGGACCTTTTTGGAA	0.353000														112			16		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196659194	196659194	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196659194G>A	uc002utj.4	-	56	10685	c.10584C>T	c.(10582-10584)ttC>ttT	p.F3528F	DNAH7_uc002uti.4_Silent_p.F11F	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3528	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGACACAGGGAAATTTGGAG	0.418000														98			41		0	0	1	0	0
STIM1	6786	broad.mit.edu	37	11	4107730	4107730	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4107730C>T	uc021qco.1	+	10	2066	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	STIM1_uc001lyv.2_Missense_Mutation_p.R500W|STIM1_uc009yef.2_Missense_Mutation_p.R500W|STIM1_uc009yeg.2_Missense_Mutation_p.R327W	NM_003156	NP_003147	Q13586	STIM1_HUMAN	Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.	500					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GAGCAGTGTTCGGCAGCGCCT	0.592000														42			11		0	0	1	0	0
GIN1	54826	broad.mit.edu	37	5	102440250	102440250	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:102440250G>A	uc003koa.1	-	3	716	c.634C>T	c.(634-636)Caa>Taa	p.Q212*	GIN1_uc003kob.1_Nonsense_Mutation_p.Q65*|GIN1_uc003koc.1_Nonsense_Mutation_p.Q212*	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	Homo sapiens gypsy retrotransposon integrase 1 (GIN1), mRNA.	212	Integrase catalytic.				DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CTTACCTGTTGAATGAATTCA	0.343000														21			8		0	0	1	0	0
REXO1L1	254958	broad.mit.edu	37	8	86573806	86573806	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:86573806C>T	uc022axf.1	-	0	1921	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	641						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						CTTGCGTCCTCGCTGGAGTTG	0.672000														48			7		0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51446170	51446170	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:51446170G>A	uc001wyx.4	-	8	2770	c.2005C>T	c.(2005-2007)Ccc>Tcc	p.P669S	TRIM9_uc001wyy.2_Missense_Mutation_p.P750S	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	669	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					AATGCTATGGGACCTTGTTGT	0.488000														166			78		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141243024	141243024	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141243024C>T	uc002tvj.1	-	58	10285	c.9313G>A	c.(9313-9315)Gac>Aac	p.D3105N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3105					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTCTGTGTCAGACCAATAG	0.393000										TSP Lung(27;0.18)				56			29		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50213657	50213657	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50213657C>T	uc010eng.3	+	14	1963	c.1647C>T	c.(1645-1647)tcC>tcT	p.S549S	CPT1C_uc002ppl.4_Silent_p.S515S|CPT1C_uc002ppi.3_Silent_p.S466S|CPT1C_uc002ppk.3_Silent_p.S538S|CPT1C_uc010enh.3_Silent_p.S549S|CPT1C_uc002ppj.3_Silent_p.S549S|CPT1C_uc010ybc.1_Silent_p.S420S|CPT1C_uc010eni.1_Silent_p.S206S	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	549					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTCCATTCTCCCTATTTGGCA	0.557000														87			17		0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38884476	38884476	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:38884476C>T	uc002ywk.3	+	10	2010	c.1934C>T	c.(1933-1935)tCt>tTt	p.S645F	DYRK1A_uc002ywi.3_3'UTR|DYRK1A_uc002ywj.3_Missense_Mutation_p.S636F|DYRK1A_uc002ywm.3_3'UTR|DYRK1A_uc011aei.2_Missense_Mutation_p.S406F	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	645					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCCAAGATTCTATGGAGGTT	0.522000														63			27		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45284519	45284519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45284519G>A	uc002ozs.3	+	2	619	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	CBLC_uc010ejt.3_Missense_Mutation_p.E186K	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	186	Cbl-PTB.|EF-hand-like.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CCACCCTGTGGAACCAGGCTG	0.642000			M		AML									67			26		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177250629	177250629	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:177250629C>T	uc001glf.3	+	7	2629	c.2317C>T	c.(2317-2319)Cct>Tct	p.P773S	FAM5B_uc001glg.3_Missense_Mutation_p.P668S	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	773						extracellular region		p.P773A(2)		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						GCTGCCAAACCCTGTGGAATA	0.532000														87			26		0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31487875	31487875	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31487875G>A	uc002ecd.2	+	8	996	c.962G>A	c.(961-963)gGa>gAa	p.G321E	TGFB1I1_uc021tgx.1_Missense_Mutation_p.G304E|TGFB1I1_uc002ece.2_Missense_Mutation_p.G304E	NM_001042454	NP_057011	O43294	TGFI1_HUMAN	Homo sapiens transforming growth factor beta 1 induced transcript 1 (TGFB1I1), transcript variant 1, mRNA.	321	LIM zinc-binding 2.				Wnt receptor signaling pathway|androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	I-SMAD binding|Roundabout binding|androgen receptor binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GAGCCCTTCGGAGATGAGGGT	0.637000														11			5		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224759	3224759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:3224759C>T	uc022aqr.1	-	19	3300	c.2910G>A	c.(2908-2910)atG>atA	p.M970I	CSMD1_uc011kwj.2_Missense_Mutation_p.M363I|CSMD1_uc003wqe.3_Missense_Mutation_p.M127I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	971	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTGAAAGATCATTTGAACTC	0.557000														15			3		0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113285641	113285641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113285641G>A	uc010syl.2	+	4	586	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	RPH3A_uc001ttz.3_Missense_Mutation_p.R75Q|RPH3A_uc001tty.3_Missense_Mutation_p.R71Q|RPH3A_uc009zwe.1_Missense_Mutation_p.R71Q|RPH3A_uc010sym.2_Intron	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	75	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.R71Q(1)|p.R74H(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GAGCAGGAGCGAATCGGGTGA	0.562000														23			10		0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18123478	18123478	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:18123478C>T	uc021wbb.1	+	0	611	c.174C>T	c.(172-174)tcC>tcT	p.S58S	PET117_uc021wba.1_3'UTR|CSRP2BP_uc002wqk.3_5'Flank	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	58					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GTGGGGATTCCCTCAACAGTG	0.527000														65			24		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111962889	111962889	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:111962889G>A	uc003dyu.3	-	10	1454	c.1232C>T	c.(1231-1233)aCc>aTc	p.T411I	SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Missense_Mutation_p.T363I	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	411					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GACAACAAGGGTTATTAGGCA	0.308000														65			18		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68192613	68192613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:68192613G>A	uc001ont.3	+	14	3355	c.3280G>A	c.(3280-3282)Gaa>Aaa	p.E1094K	LRP5_uc009ysg.3_Missense_Mutation_p.E504K	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1094	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	p.E1094G(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCCAAGATCGAACGCGCAGC	0.657000														65			13		0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44050043	44050043	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:44050043C>T	uc002rtn.3	-	9	1496	c.1356G>A	c.(1354-1356)gaG>gaA	p.E452E	ABCG5_uc002rtm.3_Silent_p.E57E|ABCG5_uc002rto.3_Silent_p.E281E|ABCG5_uc002rtp.3_Silent_p.E57E	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	452	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGTCCTGACTCTCCTGGTCGC	0.572000														24			11		0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28269783	28269783	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28269783G>A	uc003nky.3	+	6	2572	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	PGBD1_uc003nkz.3_Missense_Mutation_p.E718K	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	718					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGCTGATAACGAAGAAATCCC	0.403000														118			21		0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62954404	62954404	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:62954404C>T	uc001sre.3	+	25	3934	c.3543C>T	c.(3541-3543)gaC>gaT	p.D1181D	MON2_uc010ssn.2_Silent_p.D1181D|MON2_uc009zqj.3_Silent_p.D1181D|MON2_uc010ssl.2_Silent_p.D1109D|MON2_uc010ssm.2_Silent_p.D1158D|MON2_uc001srf.3_Silent_p.D944D|MON2_uc001srg.3_Silent_p.D56D	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1182					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CTGTCAGAGACTCAGATAAGC	0.448000														57			33		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38959949	38959949	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38959949C>T	uc002oit.3	+	26	3691	c.3561C>T	c.(3559-3561)ttC>ttT	p.F1187F	RYR1_uc002oiu.3_Silent_p.F1187F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1187	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	cACCAGGCTTCCTGCCCGTCT	0.647000														62			28		0	0	1	0	0
PIP	5304	broad.mit.edu	37	7	142836648	142836648	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142836648G>A	uc003wcf.1	+	3	390	c.354G>A	c.(352-354)cgG>cgA	p.R118R		NM_002652	NP_002643	P12273	PIP_HUMAN	Homo sapiens prolactin-induced protein (PIP), mRNA.	118						extracellular region	actin binding	p.R118R(2)|p.R118L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		ATGTTATTCGGGAATTAGGCA	0.453000														141			66		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31590878	31590878	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:31590878C>T	uc002rnv.1	-	19	2225	c.2146G>A	c.(2146-2148)Gag>Aag	p.E716K		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	716					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.E716*(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCCCCTTTCTCGATCTTCAGC	0.468000														71			109		0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67221470	67221470	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67221470C>T	uc002erx.1	-	4	939	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_Intron|EXOC3L1_uc010vje.1_Missense_Mutation_p.R172Q|EXOC3L1_uc002ery.1_Missense_Mutation_p.R177Q	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA.	233	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGGGGTTGTTCGTCCAGTCTC	0.687000														53			10		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511128	169511128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169511128G>A	uc001ggg.1	-	12	3345	c.3200C>T	c.(3199-3201)tCg>tTg	p.S1067L		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1067	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AAGCACCAACGAATGCTTAAG	0.438000														298			63		0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707226	96707226	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:96707226C>T	uc010avm.1	+	2	757	c.561C>T	c.(559-561)ctC>ctT	p.L187L	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.L160L|BDKRB2_uc001yfg.2_Silent_p.L187L	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	187					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GTACGCTGCTCCTGAGCTCAC	0.612000														72			21		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415993	86415993	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:86415993C>T	uc003uid.3	+	2	1984	c.885C>T	c.(883-885)ttC>ttT	p.F295F	GRM3_uc010lef.3_Silent_p.F293F|GRM3_uc010leg.3_Silent_p.F167F|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	295					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)	ATGCCTCCTTCACCTGGGTGG	0.677000														55			29		0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153476190	153476190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:153476190G>A	uc002tye.3	+	14	2162	c.1795G>A	c.(1795-1797)Gga>Aga	p.G599R	FMNL2_uc010fob.3_Missense_Mutation_p.G48R|FMNL2_uc002tyf.3_Missense_Mutation_p.G48R	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	599	Pro-rich.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TCCGCTGCCTGGAACATCTTC	0.562000														22			10		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651838	84651838	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:84651838G>T	uc002bjz.4	+	20	3682	c.3458G>T	c.(3457-3459)gGg>gTg	p.G1153V	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G1153V	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1153						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGCTCAGAGGGGAAACAGGG	0.547000														48			14		4.93089e-13	4.95235e-13	1	1	0
GPC5	2262	broad.mit.edu	37	13	92345675	92345675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:92345675C>T	uc010tif.2	+	2	926	c.560C>T	c.(559-561)tCc>tTc	p.S187F		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	187						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ACTGACAGTTCCCTGGAATAC	0.473000														114			85		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371732	240371732	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240371732C>T	uc010pye.2	+	5	3857	c.3632C>T	c.(3631-3633)cCc>cTc	p.P1211L	FMN2_uc010pyd.2_Missense_Mutation_p.P1207L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1207	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCTGGGATTCCCCCACCTCCT	0.657000														26			18		0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55406589	55406589	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55406589A>T	uc003pcn.3	-	3	484	c.325T>A	c.(325-327)Tcc>Acc	p.S109T	HMGCLL1_uc011dxe.2_Missense_Mutation_p.S79T|HMGCLL1_uc003pco.3_Missense_Mutation_p.S79T|HMGCLL1_uc010jzx.3_5'UTR|HMGCLL1_uc011dxc.2_Missense_Mutation_p.S79T|HMGCLL1_uc011dxd.2_Missense_Mutation_p.S79T|HMGCLL1_uc003pcp.3_Missense_Mutation_p.S79T	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	109							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.S109F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCAGTTTGGGAAAGTCGATTG	0.313000														82			42		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542280	55542280	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55542280C>T	uc003xsd.1	+	3	5986	c.5838C>T	c.(5836-5838)ttC>ttT	p.F1946F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1946					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGAAAATTTCTTGGGTTTTT	0.343000														98			22		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48663735	48663735	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48663735G>A	uc003cuf.1	-	54	12339	c.12339C>T	c.(12337-12339)acC>acT	p.T4113T	CELSR3_uc003cug.3_Silent_p.T706T|CELSR3_uc011bbp.2_Silent_p.T691T|CELSR3_uc010hke.3_Silent_p.T559T|CELSR3_uc003cuk.3_Silent_p.T619T|CELSR3_uc003cuh.3_Silent_p.T727T|CELSR3_uc003cui.3_Silent_p.T726T|CELSR3_uc003cuj.3_Silent_p.T708T	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GATGCTTCTTGGTGATGGATG	0.582000														79			13		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579376	44579376	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44579376C>T	uc003tlb.3	-	1	676	c.620G>A	c.(619-621)gGa>gAa	p.G207E	NPC1L1_uc011kbw.2_Missense_Mutation_p.G207E|NPC1L1_uc003tlc.3_Missense_Mutation_p.G207E|NPC1L1_uc003tld.3_Missense_Mutation_p.G207E	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	207					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)	GCCTGTGTCTCCCTGGAAGTT	0.632000														70			26		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585738	179585738	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179585738C>T	uc021vsy.1	-	75	19501	c.19276G>A	c.(19276-19278)Gaa>Aaa	p.E6426K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3087K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7353	Ig-like 45.						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)			GCACTAGCTTCATTGATCGTA	0.433000														78			32		0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130505248	130505248	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:130505248G>A	uc003qbw.3	-	7	982	c.654_splice	c.e7+1	p.F218_splice	SAMD3_uc003qbx.3_Splice_Site_p.F218_splice|SAMD3_uc010kfg.1_Splice_Site_p.F218_splice|SAMD3_uc003qby.3_Splice_Site_p.F218_splice|SAMD3_uc003qbz.1_Splice_Site_p.F177_splice	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	218										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GGTCACTTACGAAGCCACAGC	0.468000														13			10		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190068213	190068213	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:190068213C>T	uc001gse.1	-	7	1468	c.1236G>A	c.(1234-1236)gaG>gaA	p.E412E	FAM5C_uc010pot.1_Silent_p.E310E	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	412						extracellular region		p.E412K(1)		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)					GGAGGCCGTTCTCATTGCAGT	0.488000														27			13		0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70342950	70342950	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:70342950C>T	uc004dyy.3	+	10	1690	c.1491C>T	c.(1489-1491)tcC>tcT	p.S497S	MED12_uc011mpq.1_Silent_p.S497S|MED12_uc004dyz.3_Silent_p.S497S|MED12_uc004dza.3_Silent_p.S344S|MED12_uc022byq.1_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	497					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)					TCCAGATCTCCTCAGATGATG	0.483000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							64			82		0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41165887	41165887	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:41165887G>A	uc010jxm.1	-	1	515	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	112	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGGGTACAGGATCCCAGAGG	0.622000														39			9		0	0	1	0	0
POFUT1	23509	broad.mit.edu	37	20	30797941	30797941	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30797941C>T	uc002wxp.3	+	1	241	c.192C>T	c.(190-192)acC>acT	p.T64T	POFUT1_uc002wxo.3_Silent_p.T64T|POFUT1_uc010ztt.2_Intron|POFUT1_uc010ztu.2_Intron|PLAGL2_uc002wxn.2_5'Flank	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA.	64					Notch signaling pathway|O-glycan processing|fucose metabolic process|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TAAACCGTACCTTGGCTGTCC	0.547000														195			27		0	0	1	0	0
FOXRED1	55572	broad.mit.edu	37	11	126143269	126143269	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:126143269C>T	uc001qdi.3	+	3	623	c.456C>T	c.(454-456)ctC>ctT	p.L152L	FOXRED1_uc010sbn.2_5'UTR|FOXRED1_uc010sbq.2_Missense_Mutation_p.P21S|FOXRED1_uc010sbo.2_Non-coding_Transcript|FOXRED1_uc010sbp.2_5'UTR|FOXRED1_uc010sbr.2_Silent_p.L138L|FOXRED1_uc001qdk.3_5'UTR	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	152						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CCCTGGACCTCCGGTTCAACC	0.557000														120			31		0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802755	24802755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:24802755C>T	uc002dmm.3	+	5	2906	c.2792C>T	c.(2791-2793)tCt>tTt	p.S931F	TNRC6A_uc010bxs.3_Missense_Mutation_p.S678F|TNRC6A_uc010vcc.1_Missense_Mutation_p.S678F|TNRC6A_uc002dmn.3_Missense_Mutation_p.S678F|TNRC6A_uc002dmo.3_Missense_Mutation_p.S678F	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	931	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTAATCAGTCTCTAGGTTGG	0.468000														57			26		0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27939826	27939826	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27939826C>T	uc001boj.3	-	9	1431	c.1285G>A	c.(1285-1287)Gct>Act	p.A429T	FGR_uc001boi.3_Missense_Mutation_p.A132T|FGR_uc001bok.3_Missense_Mutation_p.A429T|FGR_uc001bol.3_Missense_Mutation_p.A429T|FGR_uc001bom.3_Missense_Mutation_p.A429T	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	429	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAGAGGGCAGCTTCTGGGGCT	0.547000														120			12		0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38127004	38127004	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:38127004G>A	uc001izd.1	-	3	550	c.51C>T	c.(49-51)ttC>ttT	p.F17F	ZNF248_uc009xmc.2_Silent_p.F17F|ZNF248_uc001izb.3_Non-coding_Transcript|ZNF248_uc001izc.3_Silent_p.F17F|ZNF248_uc010qeu.1_Silent_p.F17F	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CTTCCTGAGTGAAGTCCACAC	0.383000														130			38		0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111145995	111145995	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111145995C>T	uc021oro.1	-	0	1410	c.1410G>A	c.(1408-1410)gaG>gaA	p.E470E	KCNA2_uc009wfv.2_Intron|KCNA2_uc009wfw.3_Silent_p.E470E	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	470						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)		CTCTAAAGTCCTCATTACTGT	0.388000														131			21		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166012313	166012313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166012313G>A	uc002ucx.3	-	9	1624	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	SCN3A_uc002ucy.3_Nonsense_Mutation_p.R378*|SCN3A_uc002ucz.3_Nonsense_Mutation_p.R378*|SCN3A_uc002uda.1_Nonsense_Mutation_p.R247*|SCN3A_uc002udb.1_Nonsense_Mutation_p.R247*	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	378						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R378Q(2)|p.R378*(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTCATGAGTCGAAATAGAGAC	0.413000														76			27		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101715232	101715232	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:101715232G>A	uc001kqj.2	-	3	2091	c.1999C>T	c.(1999-2001)Cgt>Tgt	p.R667C	DNMBP-AS1_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	667					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)		CAGGTAGGACGGTGTCGAGAT	0.597000														31			11		0	0	1	0	0
HEXA	3073	broad.mit.edu	37	15	72640430	72640430	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72640430G>A	uc002aun.4	-	8	1239	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	BC034424_uc002aug.3_Intron|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Silent_p.F355F|HEXA_uc010bix.3_Silent_p.F344F|HEXA_uc010biy.2_Silent_p.F207F|HEXA_uc010uko.1_Silent_p.F170F	NM_000520	NP_000511	P06865	HEXA_HUMAN	Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.	344					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						AGTCCTCACCGAAGCCTTTCT	0.517000														82			21		0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25811878	25811878	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:25811878A>G	uc003nfh.4	-	8	1134	c.1018T>C	c.(1018-1020)Ttc>Ctc	p.F340L	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Missense_Mutation_p.F340L|SLC17A1_uc010jqc.1_Missense_Mutation_p.F284L	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	340					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						GCTGCTGTGAAGAGTTTCCGG	0.458000														90			14		0	0	1	0	0
STEAP1B	256227	broad.mit.edu	37	7	22533207	22533207	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:22533207G>A	uc010kum.2	-	2	533	c.333C>T	c.(331-333)atC>atT	p.I111I	STEAP1B_uc003svh.3_Silent_p.I92I	NM_001164460	NP_001157932	Q6NZ63	STEAL_HUMAN	Homo sapiens STEAP family member 1B (STEAP1B), transcript variant 1, mRNA.	92						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						TGATGACCAGGATTGGAATTT	0.393000														97			19		0	0	1	0	0
ADSL	158	broad.mit.edu	37	22	40746003	40746004	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:40746003_40746004CC>TT	uc003ayp.4	+	1	380_381	c.321_322CC>TT	c.(319-324)cacctt>caTTtt	p.L108F	ADSL_uc003ays.4_Missense_Mutation_p.L108F	NM_000026	NP_000017	P30566	PUR8_HUMAN	Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA.	108					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GCATTATTCACCTTGGTGCTAC	0.421000														88			21		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513602	4513602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4513602C>T	uc002mar.1	-	2	328	c.328G>A	c.(328-330)Ggc>Agc	p.G110S	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	110	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTGTCCAGGCCTCCCTGGACC	0.657000														11			5		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	280286	280286	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:280286G>A	uc001qhw.2	+	12	3073	c.3073G>A	c.(3073-3075)Gaa>Aaa	p.E1025K	IQSEC3_uc001qhu.1_Missense_Mutation_p.E722K	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	1025					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AGCCAAAAGGGAAGCCGCGCT	0.617000														59			16		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997234	82997234	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82997234G>A	uc003uhy.2	-	16	2617	c.1996C>T	c.(1996-1998)Cgt>Tgt	p.R666C	SEMA3E_uc022agy.1_Missense_Mutation_p.R606C	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	666	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GTGATTTTACGGACCGTATGG	0.463000														76			39		0	0	1	0	0
IDE	3416	broad.mit.edu	37	10	94297234	94297234	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:94297234G>A	uc001kia.3	-	1	248	c.172C>T	c.(172-174)Cct>Tct	p.P58S		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	58					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGTCTTCAGGAGACTTGGTA	0.388000														135			10		0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164271863	164271863	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:164271863C>T	uc003iqn.3	+	3	620	c.438C>T	c.(436-438)ccC>ccT	p.P146P	NPY5R_uc021xtw.1_Silent_p.P146P	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	146					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TAAAACATCCCATATCTAATA	0.363000														174			70		0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52865921	52865921	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52865921G>A	uc001sal.4	-	1	732	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	228	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTTCCCCGACGATGCTGTCCA	0.597000														132			42		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100402849	100402849	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100402849C>T	uc003uwn.1	-	15	3264	c.2773G>A	c.(2773-2775)Gaa>Aaa	p.E925K	EPHB4_uc003uwm.1_Missense_Mutation_p.E832K|EPHB4_uc010lhj.1_Intron	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	925	SAM.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AAACTTTCTTCGTATCTTCCC	0.602000														16			4		0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15828640	15828640	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15828640G>A	uc001iod.1	-	12	1257	c.1036C>T	c.(1036-1038)Ctc>Ttc	p.L346F	FAM188A_uc001ioe.1_Missense_Mutation_p.L173F	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA.	346					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TTCTTCATGAGATTTATACTA	0.328000														103			19		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76503739	76503739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76503739G>A	uc010dhp.2	-	27	4510	c.4385C>T	c.(4384-4386)tCc>tTc	p.S1462F		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGGTACTTGGACATCATCAG	0.607000														34			5		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73569264	73569264	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73569264C>T	uc002joh.3	+	19	2784	c.2630C>T	c.(2629-2631)tCg>tTg	p.S877L	LLGL2_uc002joi.3_Missense_Mutation_p.S877L|LLGL2_uc010dgg.2_Missense_Mutation_p.S877L|LLGL2_uc002joj.3_Missense_Mutation_p.S866L|LLGL2_uc010wsd.2_Missense_Mutation_p.S504L	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	877					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGGTGGTCTCGCTGCCCCTG	0.652000														54			20		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488490	108488490	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:108488490C>T	uc010ywk.2	+	19	4112	c.4030C>T	c.(4030-4032)Cta>Tta	p.L1344L	RGPD4_uc002tdu.3_Silent_p.L531L|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1344	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTTACCTGATCTAGTTGAAGT	0.393000														278			113		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78789991	78789991	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:78789991C>T	uc004akc.2	+	13	2384	c.1846C>T	c.(1846-1848)Cgc>Tgc	p.R616C	PCSK5_uc004ajy.2_Missense_Mutation_p.R616C|PCSK5_uc004ajz.3_Missense_Mutation_p.R616C|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	616					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.R616H(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGAACGGTTCCGCTATAGCCG	0.488000														83			35		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47538583	47538583	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:47538583G>A	uc002zia.1	+	12	1254	c.1172G>A	c.(1171-1173)gGa>gAa	p.G391E	COL6A2_uc002zhz.1_Missense_Mutation_p.G391E|COL6A2_uc002zhy.1_Missense_Mutation_p.G391E	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	391	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGGCCAAGGGAAGCAAGGTG	0.642000														14			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	15	22473014	22473014	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22473014C>T	uc001yuj.2	-	6		c.314G>A								Parts of antibodies, mostly variable regions.																		TATGGTGACTCGACTCTTGAG	0.577000														375			40		0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285350	44285350	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:44285350C>T	uc010qfe.1	-	0	516	c.486G>A	c.(484-486)caG>caA	p.Q162Q						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		TTTTTCCACTCTGCCTGTCTT	0.333000														69			31		0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48327813	48327813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:48327813C>T	uc010dpa.3	-	4	682	c.533G>A	c.(532-534)gGg>gAg	p.G178E	MRO_uc010xdn.2_Intron|MRO_uc002lew.4_Missense_Mutation_p.G164E|MRO_uc010dpb.3_Intron|MRO_uc010dpc.3_Intron|MRO_uc002lex.4_Missense_Mutation_p.G164E	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	164						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CCATTTCCTCCCGGCAAAGGC	0.468000														134			69		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35163649	35163649	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:35163649C>T	uc003teq.1	-	12	1554	c.447G>A	c.(445-447)ttG>ttA	p.L149L	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TCAGAAATTTCAAAATGATTG	0.318000														90			29		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065576	23065577	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:23065576_23065577GG>AA	uc002wsv.3	-	0	1401_1402	c.1253_1254CC>TT	c.(1252-1254)gcc>gTT	p.A418V		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	418	EGF-like 4; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGTCCTCCCCGGCCAGGACGTA	0.634000														64			35		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215896555	215896555	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:215896555G>A	uc002vew.3	-	8	1271	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L	ABCA12_uc002vev.3_Silent_p.L33L|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	351					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.L351P(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTGCAGCCAGACTGCTTGGA	0.328000														122			49		0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22059407	22059407	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:22059407C>T	uc003xbg.3	+	15	2465	c.2199C>T	c.(2197-2199)ttC>ttT	p.F733F	BMP1_uc003xbf.3_3'UTR|BMP1_uc003xbb.3_3'UTR|BMP1_uc003xbc.3_3'UTR|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Silent_p.F482F|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	733	EGF-like 2; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCAGTGGCTTCGTCCTCCATG	0.602000														23			4		0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4842683	4842683	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4842683C>T	uc010qyn.2	+	0	68	c.68C>T	c.(67-69)cCt>cTt	p.P23L		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTGCTGAGCCTCTGATCTTC	0.438000														272			115		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8602908	8602908	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:8602908C>T	uc003glm.3	+	2	354	c.180C>T	c.(178-180)acC>acT	p.T60T	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.T49T|CPZ_uc003gln.3_5'UTR	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	60	FZ.				Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACCACACCACCTTCCCCAACC	0.642000														49			16		0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100210593	100210593	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100210593C>T	uc003uvq.3	+	1	381	c.179C>T	c.(178-180)cCc>cTc	p.P60L	MOSPD3_uc003uvr.3_Missense_Mutation_p.P60L|MOSPD3_uc003uvs.3_Missense_Mutation_p.P60L|MOSPD3_uc003uvt.3_Missense_Mutation_p.P60L	NM_001040097	NP_076438	O75425	MSPD3_HUMAN	Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA.	60	MSP.					integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTCTATAACCCCACAGGAACT	0.647000														139			28		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38523620	38523620	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38523620G>A	uc010ive.1	-	4	794	c.462C>T	c.(460-462)taC>taT	p.Y154Y	LIFR_uc003jli.2_Silent_p.Y154Y	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	154					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCCACTTTAGGTATAATGTAG	0.363000			T	PLAG1	salivary adenoma									79			14		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229775	87229775	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:87229775G>A	uc003ydq.1	-	2	1201	c.1103C>T	c.(1102-1104)tCa>tTa	p.S368L	SLC7A13_uc003ydr.1_Missense_Mutation_p.S359L	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	368						integral to membrane	amino acid transmembrane transporter activity	p.S368L(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AGACCATAATGAACCCGTGAA	0.323000														56			13		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168861618	168861618	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:168861618G>A	uc011bpj.1	-	2	781	c.378C>T	c.(376-378)atC>atT	p.I126I	MECOM_uc003ffj.3_Silent_p.I2I|MECOM_uc003ffi.3_5'UTR|MECOM_uc011bpi.1_5'UTR|MECOM_uc003ffn.3_5'UTR|MECOM_uc003ffk.2_5'UTR|MECOM_uc003ffl.2_Silent_p.I98I|MECOM_uc011bpk.1_5'UTR|MECOM_uc010hwn.2_Silent_p.I126I|MECOM_uc003ffm.1_Silent_p.I2I	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	126							sequence-specific DNA binding transcription factor activity	p.H125N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATTCGTCTAAGATCTGGAGGG	0.373000														133			25		0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158500435	158500435	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:158500435C>T	uc010jip.3	-	5	825	c.523G>A	c.(523-525)Gag>Aag	p.E175K	EBF1_uc011ddw.2_Missense_Mutation_p.E42K|EBF1_uc011ddx.2_Missense_Mutation_p.E175K|EBF1_uc003lxl.4_Intron	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	175					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGGGAGTCTCATTTCGGTTG	0.418000			T	HMGA2	lipoma									115			60		0	0	1	0	0
C10orf27	219793	broad.mit.edu	37	10	72539488	72539488	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72539488C>T	uc010qjm.1	-	4	678	c.288G>A	c.(286-288)ggG>ggA	p.G96G	C10orf27_uc001jrj.1_Silent_p.G96G|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Silent_p.G96G|C10orf27_uc009xqi.1_Intron|C10orf27_uc010qjo.1_Silent_p.G85G|C10orf27_uc009xqj.1_Missense_Mutation_p.G91E|C10orf27_uc010qjp.1_Silent_p.G85G	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	96					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						AGACAGGCTTCCCGGTGAGAT	0.562000														42			16		0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66259201	66259201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66259201C>T	uc001oig.1	+	8	1024	c.962C>T	c.(961-963)cCc>cTc	p.P321L	DPP3_uc001oif.1_Missense_Mutation_p.P321L|DPP3_uc010rpe.1_Missense_Mutation_p.P310L	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	321					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TACCGCGACCCCTTTGGTTCC	0.612000														197			88		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62239438	62239438	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:62239438G>A	uc002agz.3	-	42	4921	c.4830C>T	c.(4828-4830)gtC>gtT	p.V1610V	VPS13C_uc002aha.3_Silent_p.V1567V|VPS13C_uc002ahb.2_Silent_p.V1610V|VPS13C_uc002ahc.2_Silent_p.V1567V	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1610					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CACAGACAAAGACATTAAATG	0.308000														151			51		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7152762	7152762	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7152762G>A	uc002mgd.1	-	9	2315	c.2206C>T	c.(2206-2208)Ctg>Ttg	p.L736L	INSR_uc002mge.1_Silent_p.L736L|INSR_uc002mgf.3_Silent_p.L736L	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	736					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACGTTGTGCAGGTAATCCTCA	0.542000														156			62		0	0	1	0	0
BLVRA	644	broad.mit.edu	37	7	43846778	43846778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:43846778C>T	uc010kxv.3	+	8	1012	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L	BLVRA_uc003tir.3_Silent_p.L279L	NM_001253823	NP_001240752	P53004	BIEA_HUMAN	Homo sapiens biliverdin reductase A (BLVRA), transcript variant 2, mRNA.	279					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	GAAACGCATCCTGCACTGCCT	0.433000														75			32		0	0	1	0	0
GBE1	2632	broad.mit.edu	37	3	81698078	81698078	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:81698078G>A	uc021xav.1	-	4	902	c.620C>T	c.(619-621)tCt>tTt	p.S207F	GBE1_uc021xax.1_Missense_Mutation_p.S166F	NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	207					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TTCATGGGAAGAAATTCCCAC	0.333000									Glycogen Storage Disease, type IV					17			9		0	0	1	0	0
GNA11	2767	broad.mit.edu	37	19	3119345	3119345	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3119345C>T	uc002lxd.3	+	5	1119	c.877C>T	c.(877-879)Ccc>Tcc	p.P293S	DKFZp434J194_uc010xhe.2_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	293					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GGACTACTTCCCCGAGTTCGA	0.632000			Mis		uveal melanoma									72			32		0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6639129	6639129	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6639129C>T	uc001ant.3	+	5	2107	c.2011C>T	c.(2011-2013)Cac>Tac	p.H671Y	TAS1R1_uc001anu.3_Missense_Mutation_p.H417Y|TAS1R1_uc021ofp.1_3'UTR|ZBTB48_uc009vmc.2_5'Flank|ZBTB48_uc001anx.3_5'Flank|ZBTB48_uc009vmd.2_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	671					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TACATTCTACCACGCCTGGGT	0.517000														112			23		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92102845	92102845	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:92102845G>A	uc001xzs.1	-	16	1806	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S	CATSPERB_uc010aub.1_Missense_Mutation_p.P78S	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	556					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TCGTTCTCAGGTACATATGCA	0.413000														76			15		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875172	247875172	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247875172C>T	uc001idj.1	-	0	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E296K(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCTCTTACTTCCTTATTACGA	0.428000														148			61		0	0	1	0	0
COPS2	9318	broad.mit.edu	37	15	49431756	49431756	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:49431756G>A	uc001zxh.3	-	3	420	c.341C>T	c.(340-342)tCt>tTt	p.S114F	COPS2_uc001zxf.3_Missense_Mutation_p.S114F|COPS2_uc010ufa.2_Missense_Mutation_p.S50F	NM_001143887	NP_001137359	P61201	CSN2_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) (COPS2), transcript variant 2, mRNA.	114					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ATCAAGAATAGAATTAATGGA	0.328000														89			34		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142574200	142574200	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142574200G>A	uc003wbx.2	-	5	952	c.723C>T	c.(721-723)ctC>ctT	p.L241L	TRPV6_uc003wbw.1_Silent_p.L27L|TRPV6_uc010lou.1_Silent_p.L112L	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	241					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGAAAGGGGTGAGACCCTGGT	0.572000														32			25		0	0	1	0	0
ZNF587	84914	broad.mit.edu	37	19	58367558	58367558	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58367558C>T	uc002qql.3	+	1	346	c.120C>T	c.(118-120)taC>taT	p.Y40Y	ZNF587_uc002qqb.2_5'UTR|ZNF587_uc002qqi.2_5'UTR|ZNF587_uc010yhh.2_5'UTR|ZNF587_uc021vco.1_Silent_p.Y40Y|ZNF587_uc002qqj.1_Non-coding_Transcript|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.2_Silent_p.Y39Y	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	Homo sapiens zinc finger protein 587 (ZNF587), transcript variant 1, mRNA.	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GGTGCTTGTACCGTGATGTGA	0.498000														91			16		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68972915	68972915	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:68972915G>A	uc003xxv.1	+	11	1266	c.1239_splice	c.e11-1	p.S413_splice	PREX2_uc003xxu.1_Splice_Site_p.S413_splice|PREX2_uc011lez.1_Splice_Site_p.S348_splice	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	413	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.E414K(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTCTTGCAGCGAATTTGTGTC	0.418000														66			19		0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27411786	27411786	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:27411786G>A	uc001iti.3	-	11	1600	c.1390C>T	c.(1390-1392)Ctt>Ttt	p.L464F	YME1L1_uc001itj.3_Missense_Mutation_p.L407F|YME1L1_uc010qdl.2_Missense_Mutation_p.L374F	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	464					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATTTCAGCAAGAAGTTGATTT	0.343000														66			30		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131755565	131755565	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:131755565C>T	uc021qav.1	-	5	570	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	EBF3_uc001lki.2_Missense_Mutation_p.G171S	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	171					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.T156T(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TTTCTATTGCCACAACTTTTC	0.388000														104			28		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15375521	15375521	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15375521G>A	uc002nar.3	-	5	1128	c.906C>T	c.(904-906)ccC>ccT	p.P302P	BRD4_uc002nas.3_Silent_p.P302P|BRD4_uc002nat.3_Silent_p.P302P|BRD4_uc002nau.4_Silent_p.P302P	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	302					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCTCGTGAATGGGGTCAATGG	0.622000			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		180			35		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646505	57646505	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57646505G>A	uc002qnz.1	-	4	1586	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTTCTGAAAGAAGGCTTTTC	0.378000														170			69		0	0	1	0	0
SLAMF1	6504	broad.mit.edu	37	1	160607071	160607071	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160607071C>T	uc001fwl.4	-	1	671	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript|SLAMF1_uc001fwm.3_Missense_Mutation_p.E109K	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.	109					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTCCTGCTTTCCCGTATCCCC	0.468000														97			36		0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15654992	15654992	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15654992G>A	uc002nbh.4	+	9	1205	c.1038G>A	c.(1036-1038)tgG>tgA	p.W346*		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	346						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GGATCTCTTGGATGCTGTTCA	0.507000														105			39		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954784	33954784	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:33954784G>A	uc001zhi.3	+	34	5123	c.5053G>A	c.(5053-5055)Gag>Aag	p.E1685K	RYR3_uc010bar.3_Missense_Mutation_p.E1685K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1685	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCAGAGCCCCGAGATTCCCTT	0.592000														85			33		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175041968	175041968	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:175041968C>T	uc003fit.3	+	4	1031	c.944C>T	c.(943-945)tCc>tTc	p.S315F	NAALADL2_uc003fiu.1_Missense_Mutation_p.S308F|NAALADL2_uc010hwy.1_Missense_Mutation_p.S137F|NAALADL2_uc010hwz.1_Intron	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	315					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TTTTAGCTTTCCTCATTGGAA	0.378000														262			43		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95142932	95142932	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:95142932G>A	uc003ygh.2	-	16	2445	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.R774W	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	774	Cadherin 7.					integral to membrane	calcium ion binding	p.R774W(2)|p.R774Q(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTGCTGGCCGGAAACAACTT	0.448000														34			15		0	0	1	0	0
OR5AU1	390445	broad.mit.edu	37	14	21624046	21624046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21624046C>T	uc010tlp.2	-	0	139	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CTCCAGTGCTCTGCGATGGAG	0.532000														90			38		0	0	1	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22839618	22839618	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:22839618G>A	uc001irl.4	-	6	1010	c.762C>T	c.(760-762)gtC>gtT	p.V254V	PIP4K2A_uc010qcu.2_Silent_p.V114V	NM_005028	NP_005019	P48426	PI42A_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA.	254	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TTTCCAGGAAGACCTTCTTGT	0.368000											OREG0020068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		187			28		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762729	24762729	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:24762729C>T	uc001iru.4	+	5	1822	c.1419C>T	c.(1417-1419)gcC>gcT	p.A473A	KIAA1217_uc001irs.3_Silent_p.A393A|KIAA1217_uc001irt.4_Silent_p.A473A|KIAA1217_uc010qcy.2_Silent_p.A473A|KIAA1217_uc010qcz.2_Silent_p.A473A|KIAA1217_uc001irv.1_Silent_p.A323A|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.A191A|KIAA1217_uc001irz.3_Silent_p.A191A|KIAA1217_uc001irx.3_Silent_p.A191A|KIAA1217_uc001iry.3_Silent_p.A191A	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	473					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CACCCCCTGCCTCTCCTCACA	0.532000														84			38		0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81122553	81122553	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:81122553G>A	uc010ijo.3	+	6	1168	c.329G>A	c.(328-330)gGa>gAa	p.G110E	PRDM8_uc003hmb.4_Missense_Mutation_p.G110E|PRDM8_uc003hmc.4_Missense_Mutation_p.G110E	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	110	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						ATAAAAAACGGACAGCTGTTC	0.502000														58			17		0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245655	59245655	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59245655C>T	uc001nnz.1	+	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F249L(1)|p.P251T(1)|p.V250V(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCTGCATTTCGTGCCCTGCA	0.547000														186			77		0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76149896	76149896	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:76149896C>T	uc010ask.2	+	4	543	c.268C>T	c.(268-270)Cac>Tac	p.H90Y	TTLL5_uc001xrw.2_Missense_Mutation_p.H90Y|TTLL5_uc001xrx.3_Missense_Mutation_p.H90Y|TTLL5_uc001xrv.3_Missense_Mutation_p.H90Y	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	90	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCTCAGGTTCACCCAAGCAG	0.453000														83			28		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234581261	234581261	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234581261C>T	uc002vus.3	+	0	718	c.681C>T	c.(679-681)gcC>gcT	p.A227A	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Silent_p.A227A	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	230					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TCAAAAATGCCCTAGAAATAG	0.423000														440			89		0	0	1	0	0
FAM75A3	727830	broad.mit.edu	37	9	40702809	40702809	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:40702809G>A	uc010mmj.3	+	3	495	c.466G>A	c.(466-468)Gat>Aat	p.D156N		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	156	Pro-rich.					integral to membrane		p.D156N(3)|p.P155P(1)		kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGCTTCCCCGGATCCTCAAGC	0.597000														260			56		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135647	55135647	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55135647C>T	uc010rif.2	+	0	288	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTTTATCATTCATAGATACCG	0.433000														160			53		0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209784817	209784817	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:209784817G>A	uc001hhd.3	+	9	937	c.835G>A	c.(835-837)Gga>Aga	p.G279R	CAMK1G_uc001hhf.4_Missense_Mutation_p.G279R|CAMK1G_uc001hhe.3_Missense_Mutation_p.G279R	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	279	Autoinhibitory domain (By similarity).					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CAGGATTGACGGAAACACAGC	0.562000														24			5		0	0	1	0	0
BARHL1	56751	broad.mit.edu	37	9	135462841	135462841	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135462841G>A	uc004cbp.1	+	1	784	c.592G>A	c.(592-594)Gag>Aag	p.E198K		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	Homo sapiens BarH-like homeobox 1 (BARHL1), mRNA.	198						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		GCGCAGCTTCGAGCGGCAGAA	0.662000														18			4		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19411887	19411887	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19411887G>A	uc010tcj.1	-	0		c.34223C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		gtagcaagcagagatcccacc	0.507000														38			4		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19195304	19195304	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19195304C>T	uc002dfw.3	+	4	1117	c.786C>T	c.(784-786)ttC>ttT	p.F262F	SYT17_uc002dfx.3_Silent_p.F201F|SYT17_uc002dfy.3_Silent_p.F258F	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	262	C2 1.					membrane|synaptic vesicle	transporter activity	p.T261T(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GCTACACCTTCGAGATCCCCT	0.557000														112			62		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49227424	49227424	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:49227424C>T	uc010zyt.2	-	5	643	c.392G>A	c.(391-393)aGg>aAg	p.R131K	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.R127K|FAM65C_uc002xvn.1_Missense_Mutation_p.R127K	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	127										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						CCGAATGTGCCTTTCCACACA	0.597000														86			33		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128044	6128044	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6128044A>G	uc001qnn.1	-	27	4790	c.4540T>C	c.(4540-4542)Ttc>Ctc	p.F1514L	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1514	VWFA 2.		F -> C (in VWD2).		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCCTGTTGAAGTCGGCTTCA	0.572000														41			7		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70919657	70919657	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:70919657C>T	uc021vjc.1	-	6	848	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.V195M|ADD2_uc002sgz.3_Missense_Mutation_p.V195M|ADD2_uc010fdt.2_Missense_Mutation_p.V195M|ADD2_uc002shc.2_Missense_Mutation_p.V195M|ADD2_uc010fdu.2_Missense_Mutation_p.V211M	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	195					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCCTTCTCCACCACCTCTCCC	0.617000														33			14		0	0	1	0	0
ING3	54556	broad.mit.edu	37	7	120609222	120609222	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:120609222C>T	uc003vjn.3	+	8	1006	c.872C>T	c.(871-873)tCa>tTa	p.S291L	ING3_uc003vjo.3_Missense_Mutation_p.S65L|ING3_uc003vjp.3_Missense_Mutation_p.S291L|ING3_uc011kns.2_Missense_Mutation_p.S276L	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.	291					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					AATGCCAGTTCATCAGCAGCC	0.418000														69			24		0	0	1	0	0
MAPK1	5594	broad.mit.edu	37	22	22123583	22123583	+	Silent	SNP	G	A	A	rs62235129		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22123583G>A	uc002zvn.3	-	7	1233	c.993C>T	c.(991-993)ttC>ttT	p.F331F	MAPK1_uc002zvo.3_Silent_p.F331F|MAPK1_uc010gtk.1_Silent_p.F287F	NM_002745	NP_620407	P28482	MK01_HUMAN	Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA.	331					ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|regulation of sequence-specific DNA binding transcription factor activity|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|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|RNA polymerase II carboxy-terminal domain kinase activity|phosphatase binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	ATTCCATGTCGAACTTGAATG	0.368000														60			32		0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	120008510	120008510	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:120008510C>T	uc001pwz.3	-	0	354	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	77					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R77L(4)|p.R76W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GATGATGGGTCGCCGCCACTC	0.637000														189			81		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79051844	79051844	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:79051844G>A	uc002bej.4	-	23	5191	c.4980C>T	c.(4978-4980)atC>atT	p.I1660I		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1660	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						ACTGGGTGCGGATGGTGGGCA	0.721000														11			4		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10440650	10440650	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10440650C>T	uc010coi.3	-	15	1925	c.1797G>A	c.(1795-1797)aaG>aaA	p.K599K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.K599K|MYH2_uc010coj.3_Silent_p.K599K	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	599	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGTCCTTGTTCTTCTCCAGCC	0.527000														91			69		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325619	152325619	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152325619C>T	uc001ezw.4	-	2	4716	c.4643G>A	c.(4642-4644)gGa>gAa	p.G1548E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1548							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)			AGTGGTATCTCCTGTCTGTCC	0.473000														368			72		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886395	3886395	+	Missense_Mutation	SNP	G	A	A	rs140162397		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:3886395G>A	uc003bpt.4	+	1	831	c.70G>A	c.(70-72)Gag>Aag	p.E24K	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.E24K	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	24						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTCATTAACCGAGTCTTCCAT	0.473000														77			6		0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346369	29346369	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:29346369G>C	uc001zck.3	+	2	486	c.282G>C	c.(280-282)gaG>gaC	p.E94D	APBA2_uc010azj.2_Missense_Mutation_p.E94D|APBA2_uc010uat.2_Missense_Mutation_p.E94D|APBA2_uc001zcl.3_Missense_Mutation_p.E94D|APBA2_uc010uas.1_Missense_Mutation_p.E94D	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	94	Poly-Glu.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTGAGGAGGAGGAGGGCATCA	0.607000														124			24		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32200883	32200883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:32200883C>T	uc011alu.2	+	16	1401	c.1199C>T	c.(1198-1200)cCt>cTt	p.P400L	DEPDC5_uc011als.2_Missense_Mutation_p.P400L|DEPDC5_uc003als.3_Missense_Mutation_p.P400L|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.P400L|DEPDC5_uc003alr.2_Missense_Mutation_p.P400L|DEPDC5_uc011alt.2_Missense_Mutation_p.P372L	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	400					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TATAATATCCCTCACTGGATA	0.433000														230			21		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915242	119915242	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:119915242G>A	uc003vjj.1	+	0	1521	c.556G>A	c.(556-558)Gtg>Atg	p.V186M		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	186					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)					GATGGCCCTGGTGTTCTACTA	0.577000														55			12		0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86954832	86954832	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:86954832G>A	uc001dlt.3	+	7	1596	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	CLCA1_uc001dls.1_Missense_Mutation_p.E385K	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	446	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TCAAGAACTAGAGGAGCTGTC	0.527000														44			7		0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252337	124252337	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124252337C>T	uc010sai.2	-	0	903	c.903G>A	c.(901-903)agG>agA	p.R301R		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		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;0.0277)		TCAGAGCTTTCCTCAGTGCAA	0.348000														85			32		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31434475	31434475	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31434475G>A	uc010cap.1	+	23	2873	c.2824G>A	c.(2824-2826)Gat>Aat	p.D942N	ITGAD_uc002ebv.1_Missense_Mutation_p.D941N	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	941					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCAACCTCCGATGAGAAGAA	0.498000														47			12		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36884182	36884182	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36884182G>A	uc003cgj.3	-	16	5327	c.5079C>T	c.(5077-5079)ttC>ttT	p.F1693F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1693					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGGTCTTAACGAACATGCTAT	0.463000														12			28		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26636735	26636735	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:26636735G>A	uc001rhg.3	-	41	6325	c.5908C>T	c.(5908-5910)Ctg>Ttg	p.L1970L	ITPR2_uc009zjg.1_Silent_p.L121L	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1970					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.G1969D(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AACAGGCCCAGGCCACCGGTT	0.468000														176			23		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73616252	73616252	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:73616252C>T	uc002avp.3	-	7	3176	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	728					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GAGTTGAGGTCGTGCTGGACT	0.592000														115			9		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167039933	167039933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:167039933C>T	uc011bpc.2	-	11	1292	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	ZBBX_uc003feq.3_Missense_Mutation_p.E290K|ZBBX_uc003fep.3_Missense_Mutation_p.E319K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	319						intracellular	zinc ion binding	p.M318V(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CATAATTTTTCCATATAGGAT	0.289000														68			29		0	0	1	0	0
PPAP2C	8612	broad.mit.edu	37	19	288132	288132	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:288132G>A	uc002loh.3	-	1	258	c.155C>T	c.(154-156)cCg>cTg	p.P52L	PPAP2C_uc002loi.3_Missense_Mutation_p.P31L|PPAP2C_uc002loj.3_5'UTR	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	31					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TCGCTTGTACGGGGCGTTCAC	0.627000														77			36		0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136268834	136268834	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:136268834G>A	uc004cdk.3	+	14	1546	c.1485G>A	c.(1483-1485)gtG>gtA	p.V495V	C9orf96_uc004cdl.3_Non-coding_Transcript	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.	495							ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTATCATTGTGAACAAGGCCC	0.617000														19			8		0	0	1	0	0
QRFP	347148	broad.mit.edu	37	9	133768912	133768912	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:133768912C>T	uc011mcb.2	-	0	314	c.314G>A	c.(313-315)gGg>gAg	p.G105E		NM_198180	NP_937823	P83859	OX26_HUMAN	Homo sapiens pyroglutamylated RFamide peptide (QRFP), mRNA.	105					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)		GGTCTTCTCCCCCGCAGCAGG	0.647000														106			36		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19746291	19746291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19746291C>T	uc002nnd.3	-	14	1610	c.1493G>A	c.(1492-1494)cGa>cAa	p.R498Q	GMIP_uc010xrb.2_Missense_Mutation_p.R472Q|GMIP_uc010xrc.2_Missense_Mutation_p.R469Q	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	498					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCCCCGCAGTCGCCGCAGCTG	0.647000														58			20		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401081	10401081	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10401081G>A	uc002gmo.3	-	30	4429	c.4335C>T	c.(4333-4335)gcC>gcT	p.A1445A	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1445			A -> T (in a breast cancer sample; somatic mutation).			muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.A1445T(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTTTGTCCAGGGCGGCACAGG	0.453000														62			41		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120263021	120263021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:120263021G>A	uc001txj.2	-	7	961	c.905C>T	c.(904-906)cCc>cTc	p.P302L	CIT_uc001txi.2_Missense_Mutation_p.P302L	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	302	Protein kinase.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCTGCGAAGGGGGATCTCCC	0.468000														73			35		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39680673	39680673	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39680673G>A	uc010wfs.2	-	6	1277	c.1269C>T	c.(1267-1269)gcC>gcT	p.A423A	KRT15_uc002hxb.1_5'Flank|KRT15_uc002hxc.1_5'Flank|JUP_uc002hxd.4_Silent_p.A260A	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGTTCTGCTCGGCCATGACCT	0.602000														84			10		0	0	1	0	0
DPT	1805	broad.mit.edu	37	1	168698157	168698157	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:168698157C>T	uc001gfp.3	-	0	286	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K		NM_001937	NP_001928	Q07507	DERM_HUMAN	Homo sapiens dermatopontin (DPT), mRNA.	86	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					TCCGTGGGTTCCCCGAGGCTC	0.592000														65			36		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147756	82147756	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:82147756G>A	uc001szo.2	-	2	406	c.245C>T	c.(244-246)cCa>cTa	p.P82L	PPFIA2_uc021rbi.1_Missense_Mutation_p.P82L|PPFIA2_uc021rbj.1_Missense_Mutation_p.P82L|PPFIA2_uc021rbk.1_Missense_Mutation_p.P82L|PPFIA2_uc021rbl.1_Missense_Mutation_p.P82L	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	340										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCATACCTGTGGCAGGGCTGA	0.443000														19			9		0	0	1	0	0
LY86	9450	broad.mit.edu	37	6	6649878	6649878	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:6649878C>T	uc003mwy.1	+	3	407	c.373C>T	c.(373-375)Cct>Tct	p.P125S	LY86_uc003mwz.1_Non-coding_Transcript	NM_004271	NP_004262	O95711	LY86_HUMAN	Homo sapiens lymphocyte antigen 86 (LY86), mRNA.	125					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CTATGCTGGGCCTGTCAATAA	0.299000														57			28		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106543539	106543539	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:106543539G>A	uc003prd.2	+	2	575	c.341G>A	c.(340-342)gGa>gAa	p.G114E		NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	114	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		ACACGTTTTGGACCCCTAATA	0.368000			"""D, N, Mis, F, S"""		DLBCL									31			34		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100594382	100594382	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:100594382C>T	uc003dun.3	-	7	893	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	ABI3BP_uc003duo.2_Missense_Mutation_p.E263K|ABI3BP_uc003dup.4_Missense_Mutation_p.E263K	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	270						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGAGCTTTTTCTGGGGATTTA	0.438000														45			19		0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27660021	27660021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:27660021C>T	uc002dow.3	+	5	529	c.505C>T	c.(505-507)Ctc>Ttc	p.L169F	KIAA0556_uc002dox.1_Missense_Mutation_p.L34F	NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	169										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGATGTGACTCTCCAGGCAAA	0.562000														42			10		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124915205	124915205	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124915205G>A	uc021rga.1	-	8	1128	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	NCOR2_uc021rgb.1_Silent_p.F337F|NCOR2_uc010tbb.2_Silent_p.F337F|NCOR2_uc010tbc.2_Silent_p.F337F|NCOR2_uc021rgc.1_Silent_p.F337F|NCOR2_uc010tba.2_Silent_p.F337F|NCOR2_uc001ugj.1_Silent_p.F337F|NCOR2_uc001ugk.1_Silent_p.F337F	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	337					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGATCTCAGGGAACTGCTTCT	0.677000														118			38		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103908594	103908594	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:103908594C>T	uc001kum.3	+	11	4677	c.4638C>T	c.(4636-4638)ttC>ttT	p.F1546F	PPRC1_uc001kun.3_Silent_p.F1424F|PPRC1_uc010qqj.2_Silent_p.F1282F|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1546	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGGTGGTCTTCATTGGAAAGA	0.483000														40			21		0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18165325	18165325	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:18165325C>T	uc021wbb.1	+	8	2501	c.2064C>T	c.(2062-2064)ggC>ggT	p.G688G	CSRP2BP_uc002wqk.3_Silent_p.G560G|CSRP2BP_uc010zru.2_Silent_p.G559G	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	688	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTGCCTTTGGCTTCATGGTTC	0.408000														86			42		0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67577114	67577114	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67577114C>T	uc010vjp.2	+	12	2671	c.2485C>T	c.(2485-2487)Cct>Tct	p.P829S	FAM65A_uc010cei.2_Missense_Mutation_p.P651S|FAM65A_uc002eth.3_Missense_Mutation_p.P809S|FAM65A_uc010cej.3_Missense_Mutation_p.P813S|FAM65A_uc002eti.2_Missense_Mutation_p.P772S|FAM65A_uc010vjq.2_Missense_Mutation_p.P823S|FAM65A_uc002etj.1_Missense_Mutation_p.P808S|FAM65A_uc002etk.3_Missense_Mutation_p.P808S	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	813						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TGGCCAGTTTCCTGAGCTGCA	0.672000														9			8		0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36202572	36202572	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:36202572G>A	uc001bzi.3	-	23	3932	c.3852C>T	c.(3850-3852)gtC>gtT	p.V1284V	CLSPN_uc009vux.3_Silent_p.V1220V	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	1284					DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	DNA binding|anaphase-promoting complex binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGTATGAAAGACAAAGTTTC	0.468000														93			49		0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111872536	111872536	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:111872536C>T	uc001kyu.3	+	3	352	c.196_splice	c.e3-1	p.A66_splice	ADD3_uc001kyt.4_Splice_Site_p.A66_splice|ADD3_uc001kys.4_Splice_Site_p.A66_splice|ADD3_uc001kyv.3_Splice_Site_p.A66_splice|ADD3_uc001kyw.3_Splice_Site_p.A66_splice	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA.	66						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GTATTACAGGCCTTTCGGGAA	0.403000														92			33		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3655083	3655083	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3655083C>T	uc002fwo.4	-	14	1853	c.1754G>A	c.(1753-1755)gGg>gAg	p.G585E		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	585					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACTGAGATCCCCCATAGCCGC	0.557000														50			25		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531893	50531893	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50531893G>A	uc021pqb.1	+	0	1303	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	C10orf71_uc021pqa.1_Missense_Mutation_p.E434K|C10orf71_uc021pqc.1_Missense_Mutation_p.E435K	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	435										endometrium(1)	1						GGAACCCAATGAACATTATGA	0.512000														87			27		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104642755	104642755	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:104642755C>T	uc001yos.4	+	11	3630	c.3630C>T	c.(3628-3630)ctC>ctT	p.L1210L		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	1210					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ACTCCAGCCTCCCCCGGAAAC	0.721000														13			9		0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30371579	30371579	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30371579C>A	uc002wwp.1	+	11	1966	c.1268C>A	c.(1267-1269)cCt>cAt	p.P423H	TPX2_uc010gdv.1_Missense_Mutation_p.P459H	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	423					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AAGAAACCACCTGTGAAACCA	0.408000														106			41		7.63091e-17	7.66846e-17	1	1	0
COL21A1	81578	broad.mit.edu	37	6	55929392	55929392	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55929392C>T	uc003pcs.3	-	23	2388	c.2156G>A	c.(2155-2157)gGa>gAa	p.G719E	COL21A1_uc010jzz.3_Missense_Mutation_p.G104E|COL21A1_uc011dxg.2_Missense_Mutation_p.G92E|COL21A1_uc011dxh.2_Missense_Mutation_p.G104E|COL21A1_uc003pcr.3_Missense_Mutation_p.E77K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	719	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCCTGGAATTCCCTGTCTTCC	0.323000														11			4		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52000654	52000654	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52000654C>T	uc002pwx.1	-	5	1507	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E	SIGLEC12_uc002pww.1_Missense_Mutation_p.G366E|SIGLEC12_uc010eoy.1_Missense_Mutation_p.G211E	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	484					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGCTCCAGCTCCCCCGAATGC	0.567000														100			37		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175063304	175063304	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175063304G>A	uc001gkl.1	+	6	1616	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	TNN_uc010pmx.1_Silent_p.L501L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	501	Fibronectin type-III 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.G500D(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACGGGCCTGAAGCCAGGAG	0.547000														34			18		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503381	140503381	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140503381C>T	uc003lip.1	+	0	1801	c.1801C>T	c.(1801-1803)Ctg>Ttg	p.L601L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	601	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAACGCCTGGCTGTCGTACCA	0.731000														89			39		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83764144	83764144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:83764144G>A	uc003uhz.3	-	1	551	c.236C>T	c.(235-237)tCa>tTa	p.S79L		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	79	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CAGGTCGAATGAAAATATGTG	0.358000														63			22		0	0	1	0	0
GPR183	1880	broad.mit.edu	37	13	99948140	99948140	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:99948140C>T	uc001vog.3	-	1	434	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR183_uc021rma.1_Missense_Mutation_p.R87Q	NM_004951	NP_004942	P32249	GP183_HUMAN	Homo sapiens G protein-coupled receptor 183 (GPR183), mRNA.	87					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						GTAGGCTATTCGTGTAGGCAA	0.408000														81			40		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154624622	154624622	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:154624622G>A	uc003inq.3	+	2	782	c.563G>A	c.(562-564)aGc>aAc	p.S188N	TLR2_uc003inr.3_Missense_Mutation_p.S188N|TLR2_uc003ins.3_Missense_Mutation_p.S188N|TLR2_uc021xtl.1_Missense_Mutation_p.S188N	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	188					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GATCTACAGAGCTATGAGCCA	0.368000														48			38		0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124267101	124267101	+	Silent	SNP	G	A	A	rs140121900	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124267101G>A	uc010saj.2	-	0	147	c.147C>T	c.(145-147)ttC>ttT	p.F49F	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		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;0.0277)		AATTTAGACCGAAAAGAATGA	0.418000														92			69		0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58125397	58125397	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:58125397C>T	uc001spq.3	-	8	1982	c.1982G>A	c.(1981-1983)cGa>cAa	p.R661Q	AGAP2_uc001spp.3_Missense_Mutation_p.R661Q|AGAP2_uc001spr.3_Missense_Mutation_p.R325Q	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	661					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.R325Q(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ATCCAAGCTTCGTTTCTCGGA	0.532000														59			6		0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431918	56431918	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56431918G>A	uc010rjm.2	+	0	757	c.757G>A	c.(757-759)Ggc>Agc	p.G253S	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CCTCTTCTATGGCACAGTCAT	0.498000														104			8		0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570362	248570362	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248570362G>A	uc010pzm.2	+	0	1067	c.1067G>A	c.(1066-1068)gGg>gAg	p.G356E		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	356					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			AGGGCCTTGGGGAGGTTCAAG	0.522000														134			40		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30307468	30307468	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:30307468G>A	uc002ymr.2	-	26	4989	c.4976C>T	c.(4975-4977)tCt>tTt	p.S1659F		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	1613							ligase activity|zinc ion binding	p.L1658L(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TGTTTGTACAGAAGATATTTC	0.343000														62			26		0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6719205	6719205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:6719205C>T	uc002gdt.3	-	3	543	c.433G>A	c.(433-435)Ggc>Agc	p.G145S	TEKT1_uc010vth.2_5'UTR	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	145					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GCCATAATGCCCTGGATGATC	0.557000														35			26		0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21687424	21687424	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:21687424C>T	uc002wsj.2	+	1	689	c.635C>T	c.(634-636)cCt>cTt	p.P212L	PAX1_uc010zsl.2_Missense_Mutation_p.P212L|PAX1_uc010zsm.2_Missense_Mutation_p.P188L	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	212	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TACAATGTGCCTTCGGTGAGC	0.632000														72			45		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123481976	123481976	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:123481976G>A	uc001uej.1	-	9	1567	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F	PITPNM2_uc001uek.1_Silent_p.F456F	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	456					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGACGGTGTCGAACACGTTGG	0.672000														86			33		0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19575479	19575479	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:19575479C>T	uc003cbk.1	+	15	3407	c.3212C>T	c.(3211-3213)tCt>tTt	p.S1071F	KCNH8_uc010hex.1_Missense_Mutation_p.S532F	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	1071						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTACCAGGATCTTGGAACCAG	0.473000														50			19		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955590	18955590	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:18955590C>T	uc001mpg.3	-	0	960	c.742G>A	c.(742-744)Gtc>Atc	p.V248I		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	248					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAAATAAGACTTCCCTGTCC	0.473000														40			17		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169696913	169696913	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169696913C>T	uc001ggm.4	-	8	1592	c.1435G>A	c.(1435-1437)Gga>Aga	p.G479R	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	479	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GTCCATTGTCCCTGAGATGTG	0.428000														118			30		0	0	1	0	0
LOC643733	643733	broad.mit.edu	37	11	104779646	104779646	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:104779646C>T	uc021qpn.1	-	1		c.153G>A			LOC643733_uc021qpo.1_Non-coding_Transcript|LOC643733_uc001phz.3_Non-coding_Transcript					Homo sapiens caspase 4, apoptosis-related cysteine peptidase pseudogene (LOC643733), transcript variant 1, non-coding RNA.																		CAAAGTCAGCCCCATTTCTTG	0.478000														52			14		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882050	228882050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228882050G>A	uc002vpq.2	-	6	3567	c.3520C>T	c.(3520-3522)Ctc>Ttc	p.L1174F	SPHKAP_uc002vpp.2_Missense_Mutation_p.L1174F|SPHKAP_uc010zlx.1_Missense_Mutation_p.L1174F	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1174						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCACACTGAGGTGGTCACTT	0.527000														72			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056223	9056223	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9056223C>T	uc002mkp.3	-	2	31427	c.31223G>A	c.(31222-31224)gGa>gAa	p.G10408E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10410	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						TGTCACTGTTCCCAGCTCAAC	0.478000														182			65		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822140	43822140	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:43822140C>T	uc010skx.2	-	25	3849	c.3849G>A	c.(3847-3849)acG>acA	p.T1283T	ADAMTS20_uc001rno.1_Silent_p.T401T|ADAMTS20_uc001rnp.1_Silent_p.T437T	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1283						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)		ATGGCAAATTCGTGCTTAGAT	0.483000														50			14		0	0	1	0	0
CFC1B	653275	broad.mit.edu	37	2	131356248	131356248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:131356248C>T	uc002tro.1	-	2	605	c.214G>A	c.(214-216)Gag>Aag	p.E72K		NM_001079530	NP_115934	P0CG36	CFC1B_HUMAN	Homo sapiens cripto, FRL-1, cryptic family 1B (CFC1B), mRNA.	72					gastrulation	extracellular region						Colorectal(110;0.1)					GGGAGCGGCTCCTCCGGCCCC	0.627000														135			20		0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53856349	53856349	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53856349C>T	uc001sdl.4	+	7	939	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	PCBP2_uc001sde.4_Nonsense_Mutation_p.Q193*|PCBP2_uc001sdi.4_Nonsense_Mutation_p.Q197*|PCBP2_uc001sdd.4_Nonsense_Mutation_p.Q193*|PCBP2_uc001sdf.4_Nonsense_Mutation_p.Q193*|PCBP2_uc001sdc.4_Nonsense_Mutation_p.Q197*|PCBP2_uc001sdb.4_Nonsense_Mutation_p.Q193*|PCBP2_uc010soi.2_5'UTR|PCBP2_uc010soj.2_5'UTR|PCBP2_uc001sdk.4_5'UTR|PCBP2_uc010soh.1_Nonsense_Mutation_p.Q193*	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA.	197					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TGCAGGTGGTCAGGTAAGAAA	0.512000														57			11		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108382640	108382640	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:108382640G>A	uc001pkk.3	-	5	3705	c.3594C>T	c.(3592-3594)tcC>tcT	p.S1198S	EXPH5_uc010rvz.2_Silent_p.S1042S|EXPH5_uc010rvy.2_Silent_p.S1010S	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1198					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CACTTCTCCTGGAGGCAGCCA	0.378000														139			59		0	0	1	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114450762	114450762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:114450762C>T	uc001eeg.3	+	2	781	c.487C>T	c.(487-489)Cac>Tac	p.H163Y	DCLRE1B_uc001eeh.3_Missense_Mutation_p.H37Y|DCLRE1B_uc001eei.3_Missense_Mutation_p.H37Y	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	163					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAAGCTGCCCACCAGATTGT	0.463000								Other identified genes with known or suspected DNA repair function						102			33		0	0	1	0	0
GFI1B	8328	broad.mit.edu	37	9	135866329	135866329	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135866329C>T	uc004ccg.3	+	6	1240	c.885C>T	c.(883-885)agC>agT	p.S295S	GFI1B_uc010mzy.3_Silent_p.S249S	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	295	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TCACCCACAGCCGCAAGCACA	0.632000														52			13		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170139474	170139474	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170139474C>T	uc002ues.3	-	9	1293	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	LRP2_uc010zdf.1_Silent_p.Q360Q	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	360	EGF-like 2.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.Q360K(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTCACACTTCTGGTCACAAA	0.433000														152			64		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751521	140751521	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140751521C>T	uc003ljw.2	+	0	1560	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.F520F|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	522	Cadherin 5.				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)			AGCGAGCCTTCGACCACGAGC	0.682000														70			8		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151171418	151171418	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151171418G>A	uc011bod.2	-	2	469	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	157					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGTGCACCAGGCGGAGAAAG	0.413000														85			34		0	0	1	0	0
KDM4D	55693	broad.mit.edu	37	11	94731667	94731667	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:94731667C>T	uc021qow.1	+	0	1131	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L	KDM4D_uc001pfe.3_Silent_p.L377L	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	377					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			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGAGACAACTCCCTTCCCACT	0.632000														44			6		0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183895291	183895291	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:183895291G>A	uc001gqm.3	+	18	2738	c.2277G>A	c.(2275-2277)gtG>gtA	p.V759V	RGL1_uc010pog.2_Silent_p.V722V|RGL1_uc010poh.2_Silent_p.V722V|RGL1_uc001gqo.3_Silent_p.V724V|RGL1_uc010poi.2_Silent_p.V695V	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	724					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						ACAGCCAAGTGAACTTTGACT	0.453000														124			45		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108455370	108455370	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:108455370G>A	uc010ywk.2	+	3	437	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	RGPD4_uc002tdu.3_5'UTR	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	119					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATACTGGGTGGAAAGAGCAGC	0.343000														237			110		0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44584634	44584634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:44584634C>T	uc002lco.3	+	3	339	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S	KATNAL2_uc010dnq.1_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	121	LisH.					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TCAAAATCTTCCCAAGATCAA	0.458000														71			32		0	0	1	0	0
AQP6	363	broad.mit.edu	37	12	50367226	50367226	+	Silent	SNP	C	T	T	rs143481476		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:50367226C>T	uc001rvr.1	+	0	963	c.270C>T	c.(268-270)ctC>ctT	p.L90L	AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_Non-coding_Transcript	NM_001652	NP_001643	Q13520	AQP6_HUMAN	Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA.	90					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						TGGCCTTCCTCGTAGGCTCCC	0.667000														52			22		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77748454	77748454	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:77748454G>A	uc021rks.1	-	36	5910	c.5643C>T	c.(5641-5643)ctC>ctT	p.L1881L	MYCBP2_uc010aev.3_Silent_p.L1247L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	1843			A -> S (in dbSNP:rs35887505).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.R1880Q(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCTATAGTAGAGTATCTGTG	0.433000														83			20		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232561550	232561550	+	Missense_Mutation	SNP	G	A	A	rs150962063		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:232561550G>A	uc001hvg.3	-	15	4573	c.4415C>T	c.(4414-4416)tCg>tTg	p.S1472L	SIPA1L2_uc001hvf.3_Missense_Mutation_p.S546L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1472					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.S1472L(2)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCCATAGAACGAAAACTAGGG	0.507000														26			7		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123022953	123022953	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:123022953G>A	uc003egh.2	-	12	2520	c.2520C>T	c.(2518-2520)ttC>ttT	p.F840F	ADCY5_uc021xdd.1_Silent_p.F490F|ADCY5_uc003egg.2_Silent_p.F473F|ADCY5_uc003egi.1_Silent_p.F399F	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	840					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGGTGATGGTGAACACCCCAA	0.617000														54			15		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36893237	36893237	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36893237G>A	uc003cgj.3	-	13	4976	c.4728C>T	c.(4726-4728)ctC>ctT	p.L1576L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1576					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTTGTAAAGGAGGACATCAT	0.383000														24			6		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902233	51902233	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:51902233G>A	uc002iua.2	+	0	1995	c.1839G>A	c.(1837-1839)ggG>ggA	p.G613G	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	613					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.G613W(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAATTTCAGGGAAGGGATCTA	0.423000														95			25		0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44387268	44387268	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:44387268T>A	uc003oxl.3	+	8	1485	c.1175T>A	c.(1174-1176)tTc>tAc	p.F392Y		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	392	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGAGTGACTTCTCAGGTGTA	0.428000														95			36		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73169046	73169046	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:73169046G>A	uc010izf.3	+	21	2965	c.2789G>A	c.(2788-2790)cGa>cAa	p.R930Q	RGNEF_uc011csq.2_Missense_Mutation_p.R930Q|RGNEF_uc021yam.1_Missense_Mutation_p.R930Q|RGNEF_uc011csr.2_Missense_Mutation_p.R617Q	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	930	DH.				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		GTGATCGACCGAATTGGAGAT	0.413000														18			6		0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51507373	51507373	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51507373G>A	uc001zyz.4	-	8	1166	c.915C>T	c.(913-915)atC>atT	p.I305I	CYP19A1_uc001zza.4_Silent_p.I305I|CYP19A1_uc001zzb.2_Silent_p.I305I	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	305					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CAGGAGCTGCGATCAGCATTT	0.403000														78			20		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410237	105410237	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105410237G>A	uc010axc.1	-	6	11671	c.11551C>T	c.(11551-11553)Ctc>Ttc	p.L3851F	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L3751F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3851						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGAATGCTGAGGTCAGTGGTC	0.632000														180			84		0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76990361	76990361	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:76990361G>A	uc001oyf.3	-	2	388	c.137C>T	c.(136-138)tCa>tTa	p.S46L		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	46					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	p.S46S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CAACAGCAATGAAGAGTAGGC	0.428000														36			14		0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218940349	218940349	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:218940349G>A	uc010fvl.2	+	8	1652	c.1134G>A	c.(1132-1134)caG>caA	p.Q378Q	RUFY4_uc002vgw.3_Silent_p.Q205Q	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	378							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGGTCCTTCAGGGACACGCAA	0.617000														38			23		0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45867734	45867734	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45867734G>A	uc002pbj.2	-	7	713	c.666C>T	c.(664-666)tcC>tcT	p.S222S	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Silent_p.S144S|ERCC2_uc002pbk.2_Silent_p.S198S|ERCC2_uc002pbl.4_Silent_p.S198S|ERCC2_uc010xxj.1_Intron	NM_000400	NP_000391	P18074	ERCC2_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.	222	Helicase ATP-binding.				UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	MMXD complex|cytoplasm|holo TFIIH complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCAGTTCCTTGGACACCAGGT	0.627000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					33			7		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519973	113519973	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:113519973C>T	uc010ljy.1	-	3	1205	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	392					glycogen metabolic process	integral to membrane		p.E392K(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAATATTTTTCATTGCAGTAA	0.398000														147			66		0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54362336	54362336	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:54362336C>T	uc003hag.4	-	5	1460	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.D306N|LNX1_uc003hah.4_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	402	PDZ 2.					cytoplasm	zinc ion binding			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)			CCAGGCTCATCCACCTTGCGC	0.522000														171			14		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516898	157516898	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157516898G>A	uc009wsm.3	-	2	300	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	FCRL5_uc001fqu.3_Missense_Mutation_p.R48C|FCRL5_uc010phv.1_Missense_Mutation_p.R48C|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Missense_Mutation_p.R48C|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	48	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.R48C(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGTAGAAGCGAAATCCCTTG	0.478000														96			35		0	0	1	0	0
PDK4	5166	broad.mit.edu	37	7	95221348	95221348	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:95221348C>T	uc003uoa.3	-	5	966	c.646G>A	c.(646-648)Gat>Aat	p.D216N	PDK4_uc003unz.3_Missense_Mutation_p.D4N	NM_002612	NP_002603	Q16654	PDK4_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA.	216	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TAATACTGATCACAGAGCATC	0.313000														134			59		0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74673193	74673193	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:74673193C>T	uc001jte.1	+	5	1136	c.918C>T	c.(916-918)ctC>ctT	p.L306L	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	306	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TCAACATCCTCTTCTCTCTCA	0.552000														71			35		0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111644	64111644	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64111644C>T	uc001nzy.3	+	13	1680	c.1631C>T	c.(1630-1632)tCa>tTa	p.S544L	CCDC88B_uc009ypo.2_Missense_Mutation_p.S541L|CCDC88B_uc001nzz.1_Missense_Mutation_p.S193L	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	544					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCGAGGCATCAGCTGAGTGT	0.632000														101			42		0	0	1	0	0
DPPA5	340168	broad.mit.edu	37	6	74063623	74063623	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:74063623C>T	uc003pgs.2	-	1	296	c.245G>A	c.(244-246)tGg>tAg	p.W82*		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	Homo sapiens developmental pluripotency associated 5 (DPPA5), mRNA.	82	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						CTGGAGCATCCACTTGGTCCG	0.627000														31			7		0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71388496	71388496	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71388496C>T	uc003hfk.1	+	2	168	c.79C>T	c.(79-81)Cct>Tct	p.P27S	AMTN_uc010ihy.1_Missense_Mutation_p.P26S	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Homo sapiens amelotin (AMTN), mRNA.	27					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TTTGGGACTCCCTCCCACAAA	0.423000														237			70		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8492966	8492966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:8492966G>A	uc003zkk.3	-	26	3106	c.2363C>T	c.(2362-2364)tCt>tTt	p.S788F	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	788	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGGAGCCCAGAAATGATCAT	0.493000										TSP Lung(15;0.13)				77			8		0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84800711	84800711	+	Splice_Site	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:84800711G>C	uc010fgb.3	+	12	2061	c.1924_splice	c.e12+1	p.D642_splice	DNAH6_uc002soo.3_Splice_Site_p.D221_splice|DNAH6_uc002sop.3_Splice_Site_p.D221_splice	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	642	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TCAGGAACCTGGTAACTTGTC	0.363000														106			40		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31299723	31299723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:31299723C>T	uc003jhe.2	+	4	1156	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S	CDH6_uc003jhd.2_Missense_Mutation_p.P266S	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	266	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGACAACCCTCCCCGATTCCC	0.428000														81			25		0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42875928	42875928	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:42875928C>T	uc001uys.2	+	7	3221	c.3046C>T	c.(3046-3048)Cat>Tat	p.H1016Y		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	1016					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTCTATGGTTCATGGATCCTC	0.423000														84			23		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752561	247752561	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247752561G>A	uc010pyy.2	+	0	900	c.900G>A	c.(898-900)gtG>gtA	p.V300V		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCAAGGAGGTGAAAGGGGCAT	0.368000														152			52		0	0	1	0	0
BCL7A	605	broad.mit.edu	37	12	122481924	122481924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:122481924C>T	uc001ubo.3	+	3	541	c.404C>T	c.(403-405)gCc>gTc	p.A135V	BCL7A_uc001ubp.3_Missense_Mutation_p.A135V	NM_020993	NP_066273	Q4VC05	BCL7A_HUMAN	Homo sapiens B-cell CLL/lymphoma 7A (BCL7A), transcript variant 1, mRNA.	135					negative regulation of transcription, DNA-dependent					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GTGGATGAGGCCCAGGCTGAT	0.652000			T	MYC	BNHL									70			8		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2967781	2967781	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2967781C>T	uc022aqr.1	-	42	6897	c.6507G>A	c.(6505-6507)ctG>ctA	p.L2169L	CSMD1_uc011kwj.2_Silent_p.L1562L|CSMD1_uc010lrg.3_Silent_p.L238L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2170	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCAGTCCTTCAGGATCGGAT	0.493000														29			4		0	0	1	0	0
TBX21	30009	broad.mit.edu	37	17	45820503	45820503	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:45820503C>T	uc002ilv.1	+	2	924	c.713C>T	c.(712-714)tCa>tTa	p.S238L		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	Homo sapiens T-box 21 (TBX21), mRNA.	238					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGGAAGTTTCATTTGGGAAA	0.572000														44			23		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43788174	43788174	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:43788174C>T	uc001uza.4	-	16	2184	c.1884G>A	c.(1882-1884)ctG>ctA	p.L628L	ENOX1_uc001uzc.4_Silent_p.L628L|ENOX1_uc001uzb.4_Silent_p.L628L	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	628					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.T627M(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		ATCTTTTTTCCAGCGTGGCTC	0.448000														88			28		0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96789971	96789971	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:96789971G>A	uc010yui.2	-	8	914	c.914C>T	c.(913-915)gCc>gTc	p.A305V		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	305					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						AGATAGGGAGGCCGGAGCGGG	0.637000														27			11		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157475585	157475585	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:157475585G>A	uc003wno.3	-	12	1954	c.1833C>T	c.(1831-1833)gaC>gaT	p.D611D	PTPRN2_uc003wnp.3_Silent_p.D594D|PTPRN2_uc003wnq.3_Silent_p.D582D|PTPRN2_uc003wnr.3_Silent_p.D573D|PTPRN2_uc011kwa.2_Silent_p.D634D	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	611						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACTTGGTGGAGTCTTCTTGCT	0.572000														33			18		0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18844988	18844988	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:18844988C>T	uc002zoe.3	+	3		c.2242C>T			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GCAGCGGCCTCCTTGAAGATC	0.572000														38			9		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877584	24877584	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24877584C>T	uc001wpf.4	+	2	1026	c.708C>T	c.(706-708)tcC>tcT	p.S236S		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	236					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCATGGTGTCCGTGGGAGAGA	0.597000														98			24		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468807	10468807	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10468807G>A	uc003wtc.3	-	3	3030	c.2801C>T	c.(2800-2802)cCc>cTc	p.P934L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	934					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)		CTGCCCCTGGGGGCCTCCCCC	0.657000														39			15		0	0	1	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938431	116938431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:116938431G>A	uc003pxe.2	+	0	790	c.645G>A	c.(643-645)aaG>aaA	p.K215K	RSPH4A_uc010kee.2_Silent_p.K215K	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	215					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGAATGCTAAGGCTTACCTGC	0.483000									Kartagener syndrome					82			20		0	0	1	0	0
GZMB	3002	broad.mit.edu	37	14	25101071	25101071	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:25101071G>A	uc001wps.2	-	3	659	c.593C>T	c.(592-594)tCc>tTc	p.S198F	GZMB_uc010ama.2_Missense_Mutation_p.S186F|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.	198	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)		TACCTTAAAGGAAGTCTTTTT	0.473000														98			33		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56538970	56538970	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56538970G>A	uc002qmj.3	+	6	1371	c.1371G>A	c.(1369-1371)gcG>gcA	p.A457A	NLRP5_uc002qmi.3_Silent_p.A438A	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	457	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGTTGCGTGCGATCATGAACA	0.597000														27			9		0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137727469	137727469	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:137727469C>T	uc003lcy.1	+	7	2348	c.2148C>T	c.(2146-2148)agC>agT	p.S716S	KDM3B_uc010jew.1_Silent_p.S372S|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	716	Ser-rich.				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						GGGGCCCAAGCCTCTCTGCCA	0.572000														73			27		0	0	1	0	0
CD300LF	146722	broad.mit.edu	37	17	72691309	72691309	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72691309C>T	uc002jlg.3	-	6	902	c.799G>A	c.(799-801)Ggc>Agc	p.G267S	RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|CD300LF_uc002jlf.3_Missense_Mutation_p.G270S|CD300LF_uc010dfw.3_Non-coding_Transcript|CD300LF_uc002jlh.3_3'UTR|CD300LF_uc002jli.3_3'UTR|CD300LF_uc010wra.2_Missense_Mutation_p.G282S	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	Homo sapiens CD300 molecule-like family member f (CD300LF), mRNA.	267						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CTGAGGTGGCCCATGTTGCAG	0.607000														51			23		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41615664	41615665	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:41615664_41615665GG>AA	uc003gvz.4	+	4	608_609	c.191_192GG>AA	c.(190-192)agg>aAA	p.R64K	LIMCH1_uc003gvt.1_Missense_Mutation_p.R64K|LIMCH1_uc003gwe.4_Missense_Mutation_p.R223K|LIMCH1_uc003gvu.4_Missense_Mutation_p.R223K|LIMCH1_uc003gvv.4_Missense_Mutation_p.R223K|LIMCH1_uc003gvw.4_Missense_Mutation_p.R223K|LIMCH1_uc003gvx.4_Missense_Mutation_p.R223K|LIMCH1_uc003gvy.4_Missense_Mutation_p.R64K|LIMCH1_uc003gwa.4_Missense_Mutation_p.R64K|LIMCH1_uc011byu.2_Missense_Mutation_p.R69K|LIMCH1_uc003gwc.4_Missense_Mutation_p.R69K|LIMCH1_uc003gwd.4_Missense_Mutation_p.R69K|LIMCH1_uc011byv.2_5'UTR|LIMCH1_uc003gwb.1_Missense_Mutation_p.R71K	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	223	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTAGTCCTCAGGGGAAGCAGCG	0.545000														64			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466465	179466465	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179466465C>T	uc021vsy.1	-	234	47873	c.47648G>A	c.(47647-47649)cGa>cAa	p.R15883Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R9578Q|TTN_uc021vta.1_Missense_Mutation_p.R9511Q|TTN_uc021vtb.1_Missense_Mutation_p.R9386Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16810	Fibronectin type-III 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)			TGTATGAGATCGTTTACACTC	0.363000														80			23		0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103498964	103498964	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:103498964C>T	uc004ely.3	-	1	446	c.377G>A	c.(376-378)gGg>gAg	p.G126E		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	126					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GGTTTGTGGCCCCTCCGCCGG	0.662000														41			8		0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3458126	3458126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3458126C>T	uc002fvr.2	-	1	341	c.19G>A	c.(19-21)Gag>Aag	p.E7K	TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.E7K|TRPV3_uc010vrj.1_5'UTR|TRPV3_uc002fvu.3_Missense_Mutation_p.E7K	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	7						integral to membrane	calcium channel activity	p.E7D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGCACCATCTCCTTGGGGTGG	0.622000														24			13		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45152068	45152068	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:45152068C>T	uc003com.3	-	3	1056	c.921G>A	c.(919-921)ggG>ggA	p.G307G	CDCP1_uc003con.3_Silent_p.G307G	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	307						extracellular region|integral to membrane|plasma membrane		p.A306T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GGTTGAAGTTCCCCGCCATGT	0.552000														109			41		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109365066	109365066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:109365066C>T	uc010agk.2	+	2	972	c.350C>T	c.(349-351)tCc>tTc	p.S117F	MYO16_uc001vqt.1_Missense_Mutation_p.S95F	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	95					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCGGGAGGGTCCCTGCTCCAT	0.562000														95			36		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088013	86088013	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:86088013G>A	uc021rxf.1	+	0	155	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	FLRT2_uc001xvr.3_Missense_Mutation_p.R52Q|FLRT2_uc010atd.3_Missense_Mutation_p.R52Q	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	52	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGTAATGAGCGAAGCTTGACC	0.517000														103			45		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450703	55450703	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55450703C>T	uc002qih.4	-	3	1560	c.1484G>A	c.(1483-1485)tGg>tAg	p.W495*	NLRP7_uc010esk.3_Nonsense_Mutation_p.W495*|NLRP7_uc002qig.4_Nonsense_Mutation_p.W495*|NLRP7_uc002qii.4_Nonsense_Mutation_p.W495*|NLRP7_uc010esl.3_Nonsense_Mutation_p.W523*	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	495							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCCGATGTCCCAGGCGTGGCC	0.572000														96			7		0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72848173	72848173	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72848173G>A	uc002jlt.1	-	2	1133	c.977C>T	c.(976-978)cCt>cTt	p.P326L	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.P326L|GRIN2C_uc002jlv.1_3'UTR	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	326					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CTCCCGGGCAGGGCTGACGGG	0.716000														15			5		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1496876	1496876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:1496876G>A	uc003wpl.3	+	1	114	c.17G>A	c.(16-18)gGa>gAa	p.G6E	DLGAP2_uc003wpm.3_Missense_Mutation_p.G6E	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	85					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGCCTTTCCGGAAGTCGGACC	0.692000														14			4		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49736512	49736512	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49736512C>T	uc003cxh.3	+	9	824	c.738C>T	c.(736-738)gcC>gcT	p.A246A	RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.3_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	246	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		AGTCCGTGGCCTTCAACTTTG	0.582000														97			29		0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11400787	11400787	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:11400787G>A	uc003wty.3	+	1	635	c.54G>A	c.(52-54)aaG>aaA	p.K18K		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	18					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCAAAGAGAAGGACAAGGGCC	0.607000														59			18		0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4827821	4827821	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:4827821C>T	uc002cxq.3	-	9	1318	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	SEPT12_uc002cxr.3_Missense_Mutation_p.D306N|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	352					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TCAGAATCGTCATGGGCCCCC	0.672000														4			3		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115391684	115391684	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115391684C>A	uc001lal.3	-	16	1836	c.1672G>T	c.(1672-1674)Gga>Tga	p.G558*	NRAP_uc009xyb.3_5'Flank|NRAP_uc001laj.3_Nonsense_Mutation_p.G558*|NRAP_uc001lak.3_Nonsense_Mutation_p.G523*	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	558						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATCTCAAATCCTTTCCCCTTT	0.463000														147			48		1.46156e-29	1.47036e-29	1	1	0
TMEM108	66000	broad.mit.edu	37	3	133099974	133099974	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:133099974C>T	uc003epi.3	+	3	1689	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	TMEM108_uc003eph.3_Silent_p.I473I|TMEM108_uc003epj.1_Silent_p.I473I|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	473						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCTGGGTGATCCTGGCCATCA	0.602000														66			12		0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32745514	32745514	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32745514G>A	uc001bux.3	+	10	1252	c.1114G>A	c.(1114-1116)Gtg>Atg	p.V372M	LCK_uc001buy.3_Missense_Mutation_p.V372M|LCK_uc001buz.3_Missense_Mutation_p.V402M|LCK_uc010ohc.1_Missense_Mutation_p.V416M|LCK_uc001bva.3_Missense_Mutation_p.V379M	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	372	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CAACATTCTGGTGTCTGACAC	0.517000			T	TRB@	T-ALL									79			42		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112018759	112018759	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:112018759C>T	uc004bdz.1	-	8	1048	c.753_splice	c.e8-1	p.R251_splice	EPB41L4B_uc004bea.3_Splice_Site_p.R251_splice	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	251	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGCTCTTTCCCCTTAGAAAA	0.473000														76			18		0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105173304	105173304	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105173304C>T	uc001ypb.2	+	6	1044	c.901C>T	c.(901-903)Ctg>Ttg	p.L301L	INF2_uc001ypc.2_Silent_p.L301L|INF2_uc010awz.1_5'Flank	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	301	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCTCCTGCACCTGGAGCCCAC	0.726000														17			7		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284411	52284411	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52284411C>T	uc001rzd.3	+	4	859	c.681C>T	c.(679-681)gcC>gcT	p.A227A	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Silent_p.A102A|ANKRD33_uc001rze.3_Silent_p.A123A|ANKRD33_uc001rzg.4_Silent_p.A29A|ANKRD33_uc001rzi.4_Silent_p.A102A	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	102								p.T226T(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GCAAGACGGCCCTGGAATGGG	0.622000														27			8		0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58430866	58430866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:58430866C>T	uc002aez.2	+	0	459	c.102C>T	c.(100-102)ttC>ttT	p.F34F	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Intron	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	34					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TGGGCACGTTCATCTTGATTG	0.453000														80			11		0	0	1	0	0
ADORA1	134	broad.mit.edu	37	1	203134472	203134472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203134472C>T	uc010pqh.1	+	2	561	c.524C>T	c.(523-525)cCt>cTt	p.P175L	ADORA1_uc001gzf.1_Missense_Mutation_p.P142L|ADORA1_uc001gze.1_Missense_Mutation_p.P142L|ADORA1_uc010pqg.1_Missense_Mutation_p.P74L|ADORA1_uc009xak.1_Silent_p.P67P	NM_001048230	NP_001041695	P30542	AA1R_HUMAN	Homo sapiens adenosine A1 receptor (ADORA1), transcript variant 2, mRNA.	142					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GGACTGACCCCTATGTTTGGC	0.647000														31			23		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174768	51174768	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:51174768C>T	uc021tif.1	-	1	1396	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	SALL1_uc021tid.1_Silent_p.A358A|SALL1_uc021tie.1_Silent_p.A455A|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	455					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAAAGACCTTCGCGCAGAACC	0.512000														82			44		0	0	1	0	0
FAM131A	131408	broad.mit.edu	37	3	184062315	184062315	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:184062315C>T	uc003foe.3	+	5	801	c.658C>T	c.(658-660)Ctc>Ttc	p.L220F	FAM131A_uc003foc.3_Missense_Mutation_p.L135F|FAM131A_uc003fog.3_Missense_Mutation_p.L189F	NM_144635	NP_001164564	Q6UXB0	F131A_HUMAN	Homo sapiens family with sequence similarity 131, member A (FAM131A), transcript variant 1, mRNA.	189						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGGCCGCACCTCCAGGACCT	0.632000														130			9		0	0	1	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74644533	74644533	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:74644533G>A	uc004ecg.3	-	7	1168	c.690C>T	c.(688-690)ctC>ctT	p.L230L	ZDHHC15_uc004ech.3_Silent_p.L221L|ZDHHC15_uc011mqo.1_Non-coding_Transcript	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	Homo sapiens zinc finger, DHHC-type containing 15 (ZDHHC15), transcript variant 1, mRNA.	230						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						GGTAACCAAAGAGAATCACAA	0.383000														12			15		0	0	1	0	0
REEP4	80346	broad.mit.edu	37	8	21996484	21996484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:21996484G>A	uc003xau.1	-	5	961	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S	REEP4_uc010ltt.1_Intron	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	Homo sapiens receptor accessory protein 4 (REEP4), mRNA.	170						integral to membrane				kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		AGGTAGAGGGGGTCATGGTAG	0.677000														21			8		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915162	176915162	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176915162C>T	uc001glc.3	-	12	2361	c.2149G>A	c.(2149-2151)Gag>Aag	p.E717K	ASTN1_uc001glb.1_Missense_Mutation_p.E717K|ASTN1_uc001gld.1_Missense_Mutation_p.E717K|ASTN1_uc009wwx.1_Missense_Mutation_p.E717K	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	725					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATGGGAAGCTCCCTGCTTTCC	0.532000														90			31		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370219	126370219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126370219C>T	uc003ifj.4	+	8	8048	c.8048C>T	c.(8047-8049)tCc>tTc	p.S2683F	FAT4_uc011cgp.2_Missense_Mutation_p.S981F|FAT4_uc003ifi.1_Missense_Mutation_p.S161F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2683	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S2683S(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAAAACCTTTCCCCTCGAAAA	0.353000														174			73		0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72004417	72004417	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:72004417G>A	uc001osj.3	-	16	2168	c.2118C>T	c.(2116-2118)acC>acT	p.T706T	CLPB_uc010rqx.2_Silent_p.T661T|CLPB_uc010rqy.2_Silent_p.T647T|CLPB_uc001osk.3_Silent_p.T676T|CLPB_uc010rqz.2_Silent_p.T505T|CLPB_uc001osi.3_Silent_p.T314T	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	706					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GCTGCTAGATGGTGTTGCACA	0.592000														35			23		0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35083487	35083487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:35083487G>A	uc001ziu.1	-	5	1061	c.818C>T	c.(817-819)tCt>tTt	p.S273F	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	273					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GATGCCAGCAGATTCCATACC	0.468000														79			19		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57252863	57252863	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57252863G>A	uc001cym.4	-	3	1344	c.938C>T	c.(937-939)tCc>tTc	p.S313F	C1orf168_uc009vzu.1_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	313										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TGGAGACAGGGAGCCCTCTTC	0.483000														66			39		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111969148	111969148	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111969148G>A	uc001eba.3	-	2	227	c.171C>T	c.(169-171)gcC>gcT	p.A57A	OVGP1_uc001eaz.3_5'UTR|OVGP1_uc010owb.2_5'UTR|OVGP1_uc010owc.1_Silent_p.A47A	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	57					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTGAGGCAAAGGCAAATATCA	0.483000														82			17		0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57843625	57843625	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57843625C>T	uc001snv.1	+	1	1006	c.879C>T	c.(877-879)tcC>tcT	p.S293S		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	293					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						TTGCTGCCTCCTTTCACACTG	0.602000														67			6		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640355	99640355	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:99640355C>T	uc001tge.2	-	12	2461	c.2044G>A	c.(2044-2046)Gaa>Aaa	p.E682K	ANKS1B_uc001tgf.2_Missense_Mutation_p.E262K|ANKS1B_uc001tgk.3_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.E648K	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	682						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GTATGGTTTTCGAGTTGGTTG	0.428000														28			4		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7457122	7457122	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7457122G>A	uc001qsx.1	+	0	195	c.195G>A	c.(193-195)aaG>aaA	p.K65K		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	65					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GGTCCCAAAAGGAGAAGGTAT	0.453000														55			8		0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47913525	47913525	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:47913525G>A	uc003csb.2	-	10	2914	c.2388C>T	c.(2386-2388)gcC>gcT	p.A796A	MAP4_uc003csc.3_Silent_p.A796A|MAP4_uc003crw.2_5'Flank|MAP4_uc003crx.2_Silent_p.A56A|MAP4_uc011bbe.1_Silent_p.A547A|MAP4_uc003csa.3_Silent_p.A531A|MAP4_uc003crz.4_Non-coding_Transcript|MAP4_uc003csd.2_Silent_p.A531A	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	796					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CAGATCTGGAGGCTGGGGCAG	0.577000														205			71		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274034	10274034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:10274034G>A	uc010uym.2	-	2	545	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	GRIN2A_uc002czo.4_Missense_Mutation_p.P79S|GRIN2A_uc002czr.4_Missense_Mutation_p.P79S|GRIN2A_uc010buk.3_Missense_Mutation_p.P79S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	79					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGCTCTTGGGGTCGGTGCGG	0.662000														109			26		0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3679786	3679786	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3679786G>A	uc001akv.2	+	6	1150	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	357	Glu-rich.									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)		GGGTGCCTGGGGAGGTGTGAG	0.672000														5			5		0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59829943	59829943	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59829943C>T	uc001nom.3	+	2	287	c.159C>T	c.(157-159)gcC>gcT	p.A53A	MS4A3_uc001non.3_Intron|MS4A3_uc001noo.3_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	53						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	p.G52E(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TCTTTCAGGCCATCCAGATCC	0.433000														88			36		0	0	1	0	0
C8orf86	389649	broad.mit.edu	37	8	38370017	38370017	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:38370017C>T	uc003xlx.1	-	2	585	c.560G>A	c.(559-561)gGa>gAa	p.G187E		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	Homo sapiens chromosome 8 open reading frame 86 (C8orf86), mRNA.	187								p.G187E(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						atgtgcatttccaatcagttc	0.532000														85			34		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475124	140475124	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140475124G>A	uc003lil.3	+	0	888	c.750G>A	c.(748-750)gaG>gaA	p.E250E	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	250	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCTATGAGGTGCAGATCC	0.522000														63			9		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28273976	28273976	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:28273976G>A	uc009xky.3	-	3	645	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.L183F	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	183							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GAATGATTGAGGAGGTGCAGA	0.373000														22			5		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46787167	46787167	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:46787167G>A	uc003bhw.1	-	15	6166	c.6166C>T	c.(6166-6168)Ccc>Tcc	p.P2056S	CELSR1_uc011arc.1_Missense_Mutation_p.P377S	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2056					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AATGCTTTGGGACAGCCATTG	0.617000											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			17		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255505	15255505	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15255505C>T	uc001iob.3	-	7	2089	c.2082G>A	c.(2080-2082)atG>atA	p.M694I		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	694						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCCCAAGCTCCATCAGGGCCT	0.582000														89			37		0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102509599	102509599	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:102509599C>T	uc003kod.4	+	20	2971	c.2452C>T	c.(2452-2454)Cgt>Tgt	p.R818C	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.R818C|PPIP5K2_uc003kof.3_Missense_Mutation_p.R119C	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	818					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACGTCATGTTCGTACTAGATT	0.333000														100			21		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26866495	26866495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:26866495G>A	uc001zbb.3	-	4	698	c.595C>T	c.(595-597)Ctt>Ttt	p.L199F	GABRB3_uc021sgg.1_Missense_Mutation_p.L72F|GABRB3_uc021sgh.1_Missense_Mutation_p.L58F|GABRB3_uc001zaz.3_Missense_Mutation_p.L143F|GABRB3_uc001zba.3_Missense_Mutation_p.L143F|GABRB3_uc001zbc.3_Non-coding_Transcript	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	143					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCAGGGTGAAGACGGATCATG	0.478000														105			34		0	0	1	0	0
ZC3H15	55854	broad.mit.edu	37	2	187370268	187370268	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:187370268C>T	uc002upo.3	+	6	1033	c.808C>T	c.(808-810)Ctt>Ttt	p.L270F	ZC3H15_uc021vts.1_5'Flank	NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA.	270						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			GATTGATAAACTTGAACAAGA	0.393000														60			11		0	0	1	0	0
FAM125B	89853	broad.mit.edu	37	9	129143376	129143376	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:129143376C>T	uc004bqh.2	+	2	324	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F	FAM125B_uc004bqg.2_Missense_Mutation_p.L80F|FAM125B_uc011lzy.2_Missense_Mutation_p.L65F|FAM125B_uc010mxd.3_Missense_Mutation_p.L73F|FAM125B_uc011lzz.1_Missense_Mutation_p.L73F	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	Homo sapiens family with sequence similarity 125, member B (FAM125B), transcript variant 1, mRNA.	80	MABP.				protein transport	late endosome membrane				kidney(1)|large_intestine(4)|lung(4)|urinary_tract(1)	10						GGATGCTGACCTCTGGAAAGA	0.463000														63			37		0	0	1	0	0
LOC646278	646278	broad.mit.edu	37	15	29083923	29083923	+	RNA	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:29083923A>C	uc021sgt.1	+	11		c.1515A>C			LOC646278_uc001zcj.3_Non-coding_Transcript					Homo sapiens programmed cell death 6 interacting protein pseudogene (LOC646278), non-coding RNA.																		ACCTGTATATAGGGCCAAGTC	0.418000														34			6		0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39228192	39228192	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39228192C>T	uc002ojd.1	-	8	1361	c.1052G>A	c.(1051-1053)gGg>gAg	p.G351E	CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'Flank	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	351	Domain III.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCAGCCGCCCCCCTCCGGGCT	0.692000														32			17		0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	818660	818660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:818660G>A	uc002cjw.2	+	16	1931	c.1820G>A	c.(1819-1821)gGg>gAg	p.G607E	MSLN_uc002cju.1_Missense_Mutation_p.G599E|MSLN_uc002cjt.1_Missense_Mutation_p.G599E|MSLN_uc010brd.1_Missense_Mutation_p.G598E|MSLN_uc002cjy.1_Silent_p.G291G|MIR662_uc021tac.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	607					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCCCTCTCGGGGACGCCCTGC	0.711000														50			10		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540727	55540727	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55540727C>T	uc003xsd.1	+	3	4433	c.4285C>T	c.(4285-4287)Cag>Tag	p.Q1429*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1429					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGGAAGTTTCAGGATGAAAA	0.368000														59			24		0	0	1	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41444953	41444953	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41444953C>T	uc010ehg.1	+	3	572	c.564C>T	c.(562-564)ttC>ttT	p.F188F	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Silent_p.F188F|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GAAAACGCTTCCACTACCAAG	0.507000														31			15		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143096028	143096028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143096028C>T	uc003wcz.3	-	5	1089	c.1002G>A	c.(1000-1002)tcG>tcA	p.S334S		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	334	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTCGGGGGGCCGAGGGGGGAC	0.632000														13			6		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467432	74467432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74467432C>T	uc002axg.1	+	1	515	c.233C>T	c.(232-234)tCg>tTg	p.S78L	ISLR_uc002axh.1_Missense_Mutation_p.S78L|ISLR_uc021sqf.1_Missense_Mutation_p.S78L	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	78					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CTGCTGCAGTCGCTGTGGCTG	0.647000														91			9		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319378	21319378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:21319378G>A	uc021tss.1	+	2	1094	c.724G>A	c.(724-726)Gag>Aag	p.E242K	KCNJ18_uc002gyv.1_Missense_Mutation_p.E242K|KCNJ18_uc021tst.1_Missense_Mutation_p.E242K	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	242						integral to membrane	inward rectifier potassium channel activity										CGAGGAGGGCGAGTACATCCC	0.607000														54			6		0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51697238	51697238	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:51697238C>T	uc011bdt.2	+	21	4331	c.4206C>T	c.(4204-4206)tcC>tcT	p.S1402S	RAD54L2_uc003dbh.3_Silent_p.S991S|RAD54L2_uc011bdu.2_Silent_p.S1096S|RAD54L2_uc003dbj.3_Silent_p.S728S	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	1402						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)		CTTTTCCTTCCCCTGTCTTGC	0.577000														114			8		0	0	1	0	0
SKA3	221150	broad.mit.edu	37	13	21732064	21732064	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:21732064G>A	uc001unt.3	-	6	1241	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	SKA3_uc001unu.3_Silent_p.L372L|SKA3_uc001unv.3_Silent_p.L290L	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	Homo sapiens spindle and kinetochore associated complex subunit 3 (SKA3), transcript variant 1, mRNA.	372					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AAATAACCTGGAGAATATCTT	0.313000														56			19		0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226570804	226570804	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:226570804G>A	uc001hqd.4	-	7	1263	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	364					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TGGCCGCCACGGAGGCGCTGG	0.512000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						280			85		0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47100963	47100963	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:47100963C>T	uc004dhp.3	+	8	1173	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	USP11_uc004dhq.3_Silent_p.S118S	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	391					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ATTTTGCATCCCAATTTCTGG	0.547000														30			59		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130855747	130855747	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:130855747C>T	uc001uik.3	+	19	2619	c.2348C>T	c.(2347-2349)gCt>gTt	p.A783V	PIWIL1_uc001uij.2_Missense_Mutation_p.A783V	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	783	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GTGAGCCAGGCTGTGAGAAGT	0.443000														112			63		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994727	140994727	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140994727C>T	uc004fbt.3	+	3	1861	c.1537C>T	c.(1537-1539)Cct>Tct	p.P513S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P172S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	513							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)					TCCCCAGTCTCCTCTCCAGAT	0.507000										HNSCC(15;0.026)				83			119		0	0	1	0	0
SHOX2	6474	broad.mit.edu	37	3	157817725	157817725	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:157817725C>T	uc003fbs.3	-	4	837	c.698G>A	c.(697-699)gGg>gAg	p.G233E	SHOX2_uc003fbr.3_Missense_Mutation_p.G209E|SHOX2_uc010hvw.3_Missense_Mutation_p.G209E	NM_003030	NP_003021	O60902	SHOX2_HUMAN	Homo sapiens short stature homeobox 2 (SHOX2), transcript variant 1, mRNA.	209					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCTGGCGGCCCCTATGAGAAC	0.438000														43			10		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967301	41967301	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:41967301G>A	uc010skn.2	+	9	2728	c.2720G>A	c.(2719-2721)cGa>cAa	p.R907Q	PDZRN4_uc001rmq.4_Missense_Mutation_p.R649Q|PDZRN4_uc009zjz.3_Missense_Mutation_p.R647Q|PDZRN4_uc001rmr.3_Missense_Mutation_p.R534Q	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	907							ubiquitin-protein ligase activity|zinc ion binding	p.R649Q(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGACCCGTGCGAGACCGAATC	0.517000														104			8		0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3682615	3682615	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:3682615G>A	uc001lye.1	+	3	959	c.858G>A	c.(856-858)aaG>aaA	p.K286K		NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	286					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGAAGTGCAAGTCTGGGCCTT	0.532000														57			26		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841825	70841825	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:70841825G>A	uc002ezr.3	-	85	15172	c.15021C>T	c.(15019-15021)ctC>ctT	p.L5007L	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	5008										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)				CTCCACCTGCGAGCGATGATA	0.587000														76			16		0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52962009	52962009	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52962009C>T	uc001sap.1	-	6	1347	c.1299G>A	c.(1297-1299)ctG>ctA	p.L433L		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	433	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGTCCAGGGCCAGTTTCAGGC	0.647000														76			35		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30495221	30495221	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30495221G>A	uc002dyi.4	+	7	972	c.796G>A	c.(796-798)Gag>Aag	p.E266K	ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Missense_Mutation_p.E183K|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	266	VWFA.				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CACGGATGGGGAGGCCACTGA	0.582000														185			28		0	0	1	0	0
AK302514	0	broad.mit.edu	37	6	66013274	66013274	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:66013274G>A	uc011dxv.2	+	1	1551	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	EYS_uc011dxu.1_Intron					SubName: Full=cDNA FLJ60373, highly similar to Zinc finger CCCH domain-containing protein11A;																		CTGGGGAAACGAAAATTTTCG	0.478000														34			22		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18729527	18729527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:18729527C>T	uc003wza.3	-	2	950	c.847G>A	c.(847-849)Gga>Aga	p.G283R		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	283					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CGATCACATCCCCCTGGGTGC	0.562000														108			7		0	0	1	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6521698	6521698	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6521698G>A	uc001anh.3	-	9	1165	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	TNFRSF25_uc001ana.3_Silent_p.F167F|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_Silent_p.F123F|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Silent_p.F350F|TNFRSF25_uc001anf.3_Silent_p.F313F|TNFRSF25_uc001ang.3_Silent_p.F305F	NM_148965	NP_683866	Q93038	TNR25_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.	350	Death.				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GCGTGCGCACGAACTCCTTCC	0.697000														21			7		0	0	1	0	0
C12orf68	387856	broad.mit.edu	37	12	48578415	48578415	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48578415G>A	uc001rrj.2	+	0	1050	c.510G>A	c.(508-510)ggG>ggA	p.G170G		NM_001013635	NP_001013657	Q52MB2	CL068_HUMAN	Homo sapiens chromosome 12 open reading frame 68 (C12orf68), mRNA.	170						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						TCCTTGGGGGGGACGGGCCAC	0.652000														7			4		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087253	92087253	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92087253G>A	uc001pdj.4	+	0	1992	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	659	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACTGATGGAGAGAATCTTGC	0.393000										TCGA Ovarian(4;0.039)				39			7		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35716442	35716442	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:35716442C>T	uc021rid.1	+	17	2907	c.2373C>T	c.(2371-2373)ttC>ttT	p.F791F	NBEA_uc021ric.1_Silent_p.F791F	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	791						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)		ATAGTCTTTTCACTCTTCTTG	0.368000														97			25		0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	40034005	40034005	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40034005C>T	uc001zki.3	-	6	873	c.655_splice	c.e6+1	p.D219_splice		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	219										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTTAAATATACCTTTATTGAG	0.328000														31			13		0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81123333	81123333	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:81123333C>T	uc010ijo.3	+	7	1556	c.717C>T	c.(715-717)ccC>ccT	p.P239P	PRDM8_uc003hmb.4_Silent_p.P239P|PRDM8_uc003hmc.4_Silent_p.P239P	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	239	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						ACCCATCCCCCTCCCCGGAAA	0.667000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			20		0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891892	2891892	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:2891892G>A	uc002kln.3	+	3	1926	c.1767G>A	c.(1765-1767)acG>acA	p.T589T		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	589					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TCAACGACACGATGCACAGGA	0.448000														34			23		0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93244932	93244932	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:93244932G>A	uc001tck.3	-	8	1018	c.753C>T	c.(751-753)ctC>ctT	p.L251L		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	251					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ATTCATCTTTGAGTTTTTCAG	0.368000														59			17		0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205899140	205899140	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205899140G>A	uc001hdp.3	-	5	711	c.597C>T	c.(595-597)ctC>ctT	p.L199L	SLC26A9_uc001hdo.3_5'Flank|SLC26A9_uc001hdq.3_Silent_p.L199L	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	199						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)			AGGACTCGGAGAGGTAGATGG	0.567000														37			12		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46727042	46727042	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46727042G>A	uc003cqa.2	-	6	952	c.759C>T	c.(757-759)ctC>ctT	p.L253L	ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.L253L	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	253					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CATCATCAAAGAGCAGCACAC	0.617000														30			9		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54783434	54783434	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54783434G>A	uc002qfb.3	-	4	690	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.L142F|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.L142F|LILRB2_uc010yet.2_Missense_Mutation_p.L26F|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	142	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L142V(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACACTGGAGGGTCACCCTT	0.582000														107			39		0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58512243	58512243	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58512243G>A	uc003dkl.3	-	9	1471	c.1296C>T	c.(1294-1296)gcC>gcT	p.A432A		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	432					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		AGGTACAGGAGGCCGACAATT	0.607000														29			22		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701523	30701523	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:30701523C>T	uc003xil.3	-	0	5011	c.5011G>A	c.(5011-5013)Gac>Aac	p.D1671N		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1671										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGGTTTTGGTCTACCAACAGT	0.338000														80			23		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717102	142717102	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:142717102C>T	uc022cfm.1	-	0	1823	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	SLITRK4_uc022cfl.1_Missense_Mutation_p.R608Q|SLITRK4_uc004fbx.3_Missense_Mutation_p.R608Q|SLITRK4_uc004fby.3_Missense_Mutation_p.R608Q	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	608						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGGACTTCGAATGGGACC	0.418000														43			47		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87489305	87489305	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:87489305G>A	uc001kdl.1	-	8	1401	c.1300C>T	c.(1300-1302)Ctc>Ttc	p.L434F	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.L5F	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	434						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AATCCTTGGAGGCGGCTGCCC	0.517000										Multiple Myeloma(13;0.14)				66			27		0	0	1	0	0
AKR7A2	8574	broad.mit.edu	37	1	19634676	19634676	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:19634676G>A	uc001bbw.3	-	2	589	c.567C>T	c.(565-567)ggC>ggT	p.G189G	AKR7A2_uc009vpi.1_Silent_p.G189G	NM_003689	NP_003680	O43488	ARK72_HUMAN	Homo sapiens aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) (AKR7A2), mRNA.	189					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGATCCAGCCATTGCTCT	0.612000														71			26		0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1823746	1823746	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:1823746G>A	uc002lua.4	-	3	2150	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	REXO1_uc010dsq.3_5'Flank|REXO1_uc010xgs.1_5'Flank|LOC100288123_uc002lub.1_Intron	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	685						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		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)		TCGGGGGCCGGGCCGGGGGCA	0.741000														3			4		0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691754	153691754	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:153691754G>A	uc003imy.3	-	1	1224	c.403C>T	c.(403-405)Cgt>Tgt	p.R135C	TIGD4_uc021xtf.1_Missense_Mutation_p.R135C	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	Homo sapiens tigger transposable element derived 4 (TIGD4), mRNA.	135	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding|chromatin binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					GATTTAAAACGATCCAGCCAA	0.413000														59			72		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375885	113375885	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:113375885G>A	uc003eam.3	-	6	5055	c.4644C>T	c.(4642-4644)tcC>tcT	p.S1548S	KIAA2018_uc003eal.3_Silent_p.S1492S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1548	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCTTGGATCGGGATTGGTCAG	0.502000														70			15		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181549743	181549743	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181549743G>A	uc009wxt.3	+	5	977	c.782G>A	c.(781-783)gGa>gAa	p.G261E	CACNA1E_uc001gow.3_Missense_Mutation_p.G261E|CACNA1E_uc009wxs.3_Missense_Mutation_p.G261E|CACNA1E_uc009wxr.3_Missense_Mutation_p.G168E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	261					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						ATTCTAGAAGGATTTGACCCC	0.507000														135			50		0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47571890	47571890	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47571890C>T	uc001cqu.1	+	8	1161	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	386						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCCGGTTACTCGACAAACCCA	0.463000														126			10		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419462	123419462	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:123419462G>A	uc003ego.3	-	17	3135	c.2853C>T	c.(2851-2853)gtC>gtT	p.V951V	MYLK_uc011bjw.2_Silent_p.V951V|MYLK_uc003egp.3_Silent_p.V882V|MYLK_uc003egq.3_Silent_p.V951V|MYLK_uc003egr.3_Silent_p.V882V|MYLK_uc003egs.3_Silent_p.V775V|MYLK_uc003egt.3_Silent_p.V142V	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	951	5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).|Calmodulin-binding (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCGAAAATCGACCTGCTGGG	0.597000														50			24		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897751	175897751	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:175897751G>A	uc003iuc.3	+	4	1745	c.1075G>A	c.(1075-1077)Ggc>Agc	p.G359S	ADAM29_uc003iud.3_Missense_Mutation_p.G359S|ADAM29_uc010irr.3_Missense_Mutation_p.G359S|ADAM29_uc011cki.2_Missense_Mutation_p.G359S|ADAM29_uc021xuo.1_Missense_Mutation_p.G359S	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	359	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AATGCATGAAGGCAACCCACC	0.373000														111			47		0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19018374	19018374	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:19018374G>A	uc001bay.3	+	4	1311	c.713G>A	c.(712-714)aGg>aAg	p.R238K	PAX7_uc001baz.3_Missense_Mutation_p.R236K|PAX7_uc010oct.2_Missense_Mutation_p.R238K	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	238					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GCCTTTGAGAGGACCCACTAC	0.637000			T	FOXO1A	alveolar rhabdomyosarcoma									24			7		0	0	1	0	0
GOLGA8C	729786	broad.mit.edu	37	15	20778028	20778028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:20778028C>T	uc010tzc.1	+	17	2284	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	DQ572979_uc001ytq.2_5'Flank					Homo sapiens golgin A8 family, member C (GOLGA8C), non-coding RNA.											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|ovary(1)|skin(1)	8						GTGTGCCATTCTTTTGCTGGG	0.507000														54			57		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41040073	41040073	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41040073G>A	uc002ony.3	+	19	4268	c.4182G>A	c.(4180-4182)gaG>gaA	p.E1394E	SPTBN4_uc002onx.3_Silent_p.E1394E|SPTBN4_uc002onz.3_Silent_p.E1394E|SPTBN4_uc010egx.3_Silent_p.E137E|SPTBN4_uc010egy.1_Silent_p.E70E|SPTBN4_uc002ooa.3_Silent_p.E70E|SPTBN4_uc010egz.1_Silent_p.E70E	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1394					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGGGCGGAGCTGGAGAGCA	0.642000														18			11		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134990687	134990687	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:134990687G>A	uc004ezh.3	+	11	1519	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	SAGE1_uc010nry.1_Missense_Mutation_p.R420Q|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	451								p.R451Q(2)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AATGGCCAACGAAAACAGGAT	0.428000														70			77		0	0	1	0	0
SLC1A3	6507	broad.mit.edu	37	5	36677252	36677252	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:36677252G>A	uc003jkj.4	+	5	1302	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	SLC1A3_uc011cox.2_Missense_Mutation_p.E169K|SLC1A3_uc010iuy.3_Missense_Mutation_p.E276K	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	276					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TTCTCTTAACGAAGCCATCAT	0.413000														62			32		0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20107106	20107106	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:20107106G>A	uc001bcn.3	-	3	388	c.146C>T	c.(145-147)tCc>tTc	p.S49F	TMCO4_uc001bco.1_Missense_Mutation_p.S49F|TMCO4_uc001bcp.1_Missense_Mutation_p.S49F|TMCO4_uc009vpn.1_Missense_Mutation_p.S49F|TMCO4_uc001bcq.1_Missense_Mutation_p.S49F	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	49						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CTGGGACAGGGAGATGCCACA	0.592000														33			15		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154124377	154124377	+	Missense_Mutation	SNP	C	T	T	rs137852366		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:154124377C>T	uc004fmt.3	-	21	6575	c.6404G>A	c.(6403-6405)cGa>cAa	p.R2135Q	F8_uc010nvi.1_3'UTR	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	2135	F5/8 type C 1.		R -> P (in HEMA; severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGAATTTCCTCGATAAGTCTG	0.408000														113			24		0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18707817	18707817	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18707817C>T	uc010ebt.2	-	4	934	c.740G>A	c.(739-741)gGg>gAg	p.G247E		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	247	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CTCCAGGCCCCCGACGCGGCT	0.662000														39			4		0	0	1	0	0
ZNF8	7554	broad.mit.edu	37	19	58805736	58805736	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58805736C>T	uc002qry.1	+	3	692	c.562C>T	c.(562-564)Cca>Tca	p.P188S	ZNF8_uc002qrz.3_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	Homo sapiens zinc finger protein 8 (ZNF8), mRNA.	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GAGTTCAAGCCCAAATCCATT	0.448000														40			22		0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62487002	62487002	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62487002G>A	uc002jei.3	-	3	978	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S	POLG2_uc021ubq.1_Missense_Mutation_p.P27S|POLG2_uc010deg.2_Missense_Mutation_p.P294S	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	Homo sapiens polymerase (DNA directed), gamma 2, accessory subunit (POLG2), nuclear gene encoding mitochondrial protein, mRNA.	294					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	p.P294S(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TTTCCCCAGGGAAAATTGTAG	0.398000														71			40		0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66802194	66802194	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66802194G>A	uc009yrl.3	+	2	343	c.113G>A	c.(112-114)aGc>aAc	p.S38N	SYT12_uc001oju.3_Missense_Mutation_p.S38N	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	38						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GCAGCTGTGAGCCTGTGGAAG	0.632000														61			22		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142480031	142480031	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142480031G>A	uc011ksq.2	+	1	246	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CCTCATCAGCGAACAGTGGGT	0.577000														140			48		0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974138	49974138	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:49974138C>T	uc010rhz.2	+	0	196	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S55S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCACTGAGATCCCCCATGTAC	0.428000														152			104		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179648883	179648883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179648883C>T	uc021vsy.1	-	15	2914	c.2689G>A	c.(2689-2691)Gag>Aag	p.E897K	TTN_uc021vsz.1_Missense_Mutation_p.E851K|TTN_uc021vta.1_Missense_Mutation_p.E851K|TTN_uc021vtb.1_Missense_Mutation_p.E851K|TTN_uc002unb.2_Missense_Mutation_p.E897K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	897							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)			TTTTTCACCTCAACGCCAGCT	0.547000														91			37		0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177608588	177608588	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:177608588G>A	uc003ius.1	-	5	1328	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	300	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.R300L(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CTGGCAGGCCGAAGCCCCGCT	0.512000														122			11		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38192815	38192815	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:38192815G>A	uc009vvi.3	-	7	1817	c.1731C>T	c.(1729-1731)ctC>ctT	p.L577L	EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	577						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCCCAGGACGAGGAGGGCCG	0.617000														42			25		0	0	1	0	0
VSIG4	11326	broad.mit.edu	37	X	65252517	65252517	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:65252517G>A	uc004dwh.2	-	2	614	c.487C>T	c.(487-489)Ctt>Ttt	p.L163F	VSIG4_uc004dwi.2_Intron|VSIG4_uc004dwj.3_Missense_Mutation_p.L163F|VSIG4_uc011moy.2_Intron	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 4 (VSIG4), transcript variant 1, mRNA.	163	Ig-like 2.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGCATTGAAGGCTAATCCTC	0.483000														33			8		0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11344004	11344004	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11344004G>A	uc002mqs.4	-	21	2634	c.2593C>T	c.(2593-2595)Cgt>Tgt	p.R865C	DOCK6_uc010xlq.2_Missense_Mutation_p.R169C	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	865					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCAGAGCCACGGGCCAGTGTG	0.642000														30			11		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48965526	48965526	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48965526C>T	uc010kyv.1	+	0	1370	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		TCTCCCATCTCCCCTGGCTGT	0.448000														19			3		0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77316575	77316575	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:77316575G>A	uc003kfj.3	-	24	3058	c.2933C>T	c.(2932-2934)cCt>cTt	p.P978L		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	978					endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TTCTCCAACAGGTGGCTGAAT	0.338000									Hermansky-Pudlak syndrome					61			23		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192132	66192132	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66192132C>T	uc001ohx.1	+	6	1947	c.1771C>T	c.(1771-1773)Cta>Tta	p.L591L	NPAS4_uc010rpc.1_Silent_p.L381L	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	591					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						GCTCTTGGCCCTAGCCCAGCT	0.587000														109			28		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519762	69519762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69519762C>T	uc021xow.1	-	4	1464	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	436					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CACACAGGGTCATTAATGACT	0.373000														165			69		0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134049606	134049606	+	Missense_Mutation	SNP	C	T	T	rs140330621		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:134049606C>T	uc004cag.3	+	21	3169	c.3058C>T	c.(3058-3060)Cgc>Tgc	p.R1020C	NUP214_uc004cah.3_Missense_Mutation_p.R1010C|NUP214_uc004cai.3_Missense_Mutation_p.R450C|NUP214_uc004caf.1_Missense_Mutation_p.R1009C|NUP214_uc010mzf.3_Missense_Mutation_p.R318C	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1020	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCCCGTGGTTCGCACTCCTTC	0.562000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									65			44		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72498746	72498746	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72498746C>T	uc001jrg.3	+	11	1757	c.1757_splice	c.e11+1	p.S586_splice	ADAMTS14_uc001jrh.3_Splice_Site_p.S583_splice|ADAMTS14_uc001jri.1_Splice_Site_p.S106_splice	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	583	TSP type-1 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AACAACCCCTCGTGAGTGTGC	0.672000														24			13		0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204002981	204002981	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:204002981C>T	uc002uzt.3	+	28	4908	c.4575C>T	c.(4573-4575)atC>atT	p.I1525I	NBEAL1_uc021vvj.1_Silent_p.I228I	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1525							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TAGTGCTGATCATACAGGACT	0.373000														74			27		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39934344	39934344	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:39934344C>T	uc021olw.1	+	60	17158	c.17158C>T	c.(17158-17160)Cgc>Tgc	p.R5720C	MACF1_uc021ols.1_Missense_Mutation_p.R5209C|MACF1_uc021olt.1_Missense_Mutation_p.R5212C|MACF1_uc001cde.2_Missense_Mutation_p.R89C|MACF1_uc001cdg.3_Missense_Mutation_p.R3C|MACF1_uc001cdh.3_Missense_Mutation_p.R3C	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7170					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGTGATGGTTCGCGTTGGTGG	0.433000														58			28		0	0	1	0	0
FGF1	2246	broad.mit.edu	37	5	141993537	141993537	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:141993537C>T	uc003lmm.3	-	1	236	c.156G>A	c.(154-156)agG>agA	p.R52R	FGF1_uc011dbi.2_Silent_p.R52R|FGF1_uc003lmn.4_Silent_p.R52R|FGF1_uc003lmp.4_Silent_p.R52R|FGF1_uc003lmq.3_Silent_p.R52R|FGF1_uc010jgj.3_Silent_p.R52R|FGF1_uc003lmr.3_Silent_p.R52R|FGF1_uc003lms.4_Silent_p.R52R|FGF1_uc021yew.1_Silent_p.R52R	NM_001144892	NP_001138407	P05230	FGF1_HUMAN	Homo sapiens fibroblast growth factor 1 (acidic) (FGF1), transcript variant 4, mRNA.	52					angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	S100 alpha binding|fibroblast growth factor receptor binding|growth factor activity|heparin binding			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	GCTGGTCGCTCCTGTCCCTTG	0.537000														57			7		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640386	57640386	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57640386G>A	uc002qny.3	+	3	699	c.343G>A	c.(343-345)Gat>Aat	p.D115N	USP29_uc021vci.1_Missense_Mutation_p.D115N	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	115					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			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)		GAAATCTGATGATGATTGGAG	0.353000														69			20		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220348083	220348083	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220348083G>A	uc010fwg.3	+	29	5898	c.5898G>A	c.(5896-5898)ggG>ggA	p.G1966G		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1966					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CAGAGACTGGGGCTGCCACCC	0.701000														18			6		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927205	130927205	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:130927205C>T	uc001uil.2	-	8	857	c.641_splice	c.e8-1	p.G214_splice	RIMBP2_uc001uim.3_Splice_Site_p.G122_splice	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	214	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GAGGAGCTCTCCTGTTGGGTA	0.617000														35			5		0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25042867	25042867	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:25042867C>T	uc001wpq.3	-	4	781	c.744G>A	c.(742-744)ctG>ctA	p.L248L		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	248					immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CCATCTGATCCAGCAGTTTGA	0.507000														289			67		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62049186	62049186	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62049186G>A	uc002jds.1	-	3	584	c.507C>T	c.(505-507)acC>acT	p.T169T		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	169					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGACTCAAAGGTGTAGATCC	0.592000														23			8		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130162359	130162359	+	Missense_Mutation	SNP	C	T	T	rs150604117	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130162359C>T	uc010htj.1	+	35	7021	c.6527C>T	c.(6526-6528)gCc>gTc	p.A2176V	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.A215V|COL6A5_uc010htk.1_Missense_Mutation_p.A215V	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2176	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTTGAGGATGCCTGTAGACTC	0.368000														55			18		0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248486954	248486954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248486954C>T	uc010pzk.2	-	0	917	c.917G>A	c.(916-918)gGa>gAa	p.G306E		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			CTTGCCCTTTCCTAAGATTTT	0.388000														61			13		0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176812784	176812784	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176812784C>T	uc003mgk.4	+	1	146	c.42C>T	c.(40-42)tcC>tcT	p.S14S	SLC34A1_uc021yis.1_Silent_p.S14S	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	14					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCTGTCTCCCCACTCCCAG	0.622000														19			6		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40114658	40114658	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	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														88			24		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114153329	114153329	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:114153329C>T	uc003ibe.4	+	4	497	c.397C>T	c.(397-399)Cct>Tct	p.P133S	ANK2_uc003ibd.4_Missense_Mutation_p.P112S|ANK2_uc003ibf.4_Missense_Mutation_p.P133S|ANK2_uc003ibc.2_Missense_Mutation_p.P109S|ANK2_uc011cgb.1_Missense_Mutation_p.P148S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	133					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGCTTTACTCCTTTATACAT	0.393000														78			25		0	0	1	0	0
KRTAP19-8	728299	broad.mit.edu	37	21	32410599	32410599	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:32410599C>T	uc010glt.3	-	0	197	c.164G>A	c.(163-165)gGa>gAa	p.G55E		NM_001099219	NP_001092689	Q3LI54	KR198_HUMAN	Homo sapiens keratin associated protein 19-8 (KRTAP19-8), mRNA.	55						intermediate filament		p.Y54C(1)		endometrium(2)|upper_aerodigestive_tract(1)	3						TCCATATCCTCCGTAGTATAA	0.478000														151			48		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1212541	1212541	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1212541C>T	uc003jbw.4	+	3	661	c.605C>T	c.(604-606)gCc>gTc	p.A202V		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	202					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGTGCCTGGCCTGCGCATGG	0.637000														145			13		0	0	1	0	0
UBXN6	80700	broad.mit.edu	37	19	4453501	4453501	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4453501G>A	uc002man.2	-	2	363	c.266C>T	c.(265-267)gCc>gTc	p.A89V	UBXN6_uc002mam.2_Missense_Mutation_p.A36V	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	Homo sapiens UBX domain protein 6 (UBXN6), transcript variant 1, mRNA.	89						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GGTGGCTTCGGCTTGAAGTTC	0.632000														31			5		0	0	1	0	0
CCND2	894	broad.mit.edu	37	12	4387925	4387925	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4387925G>A	uc001qmo.3	+	3	717	c.412_splice	c.e3-1	p.E138_splice		NM_001759	NP_001750	P30279	CCND2_HUMAN	Homo sapiens cyclin D2 (CCND2), mRNA.	138	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			TTCCCCTCCAGGAGTGGGAAC	0.572000			T	IGL@	"""NHL,CLL"""									79			10		0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371088	55371088	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55371088G>A	uc010rii.2	-	0	787	c.762C>T	c.(760-762)ttC>ttT	p.F254F		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GTGTATATATGAATATACATG	0.438000														83			8		0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96389457	96389457	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:96389457C>T	uc001tem.1	-	1	529	c.232G>A	c.(232-234)Gag>Aag	p.E78K	HAL_uc010sux.1_Missense_Mutation_p.E78K|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	78					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TCCACGAACTCGTTGTTCTCT	0.627000														66			7		0	0	1	0	0
WASF1	8936	broad.mit.edu	37	6	110423024	110423024	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:110423024G>A	uc003ptv.1	-	9	2126	c.1289C>T	c.(1288-1290)cCt>cTt	p.P430L	WASF1_uc003ptw.1_Missense_Mutation_p.P430L|WASF1_uc003ptx.1_Missense_Mutation_p.P430L|WASF1_uc003pty.1_Missense_Mutation_p.P430L	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Homo sapiens WAS protein family, member 1 (WASF1), transcript variant 1, mRNA.	430	Poly-Pro.				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		AGGCAGAGGAGGCGGTGGTGG	0.572000														41			30		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51851266	51851266	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51851266C>T	uc001rys.1	+	5	884	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	SLC4A8_uc010sni.2_Missense_Mutation_p.R183C|SLC4A8_uc001rym.3_Missense_Mutation_p.R183C|SLC4A8_uc001ryn.3_Missense_Mutation_p.R183C|SLC4A8_uc001ryo.2_Missense_Mutation_p.R183C|SLC4A8_uc001ryp.1_Missense_Mutation_p.R183C|SLC4A8_uc010snj.2_Missense_Mutation_p.R263C|SLC4A8_uc001ryq.4_Missense_Mutation_p.R236C|SLC4A8_uc001ryr.3_Missense_Mutation_p.R236C|SLC4A8_uc010snk.2_Missense_Mutation_p.R183C	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	236					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCCCATTGTTCGCTCCTTTGC	0.393000														85			24		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35644168	35644168	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:35644168C>T	uc021rid.1	+	8	1897	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	NBEA_uc021ric.1_Nonsense_Mutation_p.Q455*	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	455						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)		CACTGATGCTCAGCTCTGCCT	0.413000														20			14		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54435228	54435228	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54435228G>A	uc021smr.1	+	1	2997	c.2997G>A	c.(2995-2997)gtG>gtA	p.V999V	UNC13C_uc021sms.1_Silent_p.V999V	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	999					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)		GCAGTTCTGTGGATGAAAAGG	0.328000														78			23		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43814503	43814503	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43814503G>A	uc001zrt.3	+	3	1299	c.832G>A	c.(832-834)Gag>Aag	p.E278K		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	278						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAAGATCTTGGAGGGCCTAGA	0.547000														61			14		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61463559	61463559	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61463559G>A	uc002ljl.3	+	4	492	c.396G>A	c.(394-396)acG>acA	p.T132T	SERPINB7_uc002ljm.3_Silent_p.T132T|SERPINB7_uc010xet.2_Silent_p.T115T|SERPINB7_uc010dqg.3_Silent_p.T132T	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	132					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.T132T(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TTGACTTTACGAATCATTTAG	0.333000														62			21		0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58306080	58306080	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:58306080C>T	uc002aex.3	-	2	612	c.339G>A	c.(337-339)gtG>gtA	p.V113V	ALDH1A2_uc010ugv.2_Silent_p.V92V|ALDH1A2_uc002aey.3_Silent_p.V113V|ALDH1A2_uc010ugw.2_Silent_p.V84V|ALDH1A2_uc002aew.3_Silent_p.V17V	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	113					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TGTCCCGTTCCACCAAGTCTG	0.473000														343			128		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178554971	178554971	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178554971G>A	uc003mjw.3	-	16	2708	c.2606C>T	c.(2605-2607)cCc>cTc	p.P869L		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	869	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCCGCCACAGGGCTTGGAGCA	0.612000														141			15		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540419	133540419	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:133540419G>A	uc002ttp.3	-	13	4339	c.3965C>T	c.(3964-3966)tCt>tTt	p.S1322F	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1322							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTTGTTGGGAGAGCTTTCCGT	0.612000														46			6		0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27148074	27148074	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:27148074T>C	uc011jzl.2	-	2	992	c.792A>G	c.(790-792)ccA>ccG	p.P264P	HOXA3_uc003syk.3_Silent_p.P264P	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	264					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GGCTGCGACTTGGAGACTGGC	0.602000														129			50		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18725187	18725187	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:18725187C>T	uc003wza.3	-	3	1734	c.1631G>A	c.(1630-1632)gGa>gAa	p.G544E		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	544	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CGAGTACCTTCCCCAGAAAGC	0.463000														51			19		0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109529264	109529264	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:109529264G>A	uc001dwl.3	-	9	2206	c.1830C>T	c.(1828-1830)atC>atT	p.I610I	WDR47_uc001dwi.3_Silent_p.I603I|WDR47_uc001dwj.3_Silent_p.I602I|WDR47_uc001dwk.2_Silent_p.I574I|WDR47_uc010ovf.2_Silent_p.I529I	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	602										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGTCTTCTAGGATATTAATAC	0.323000														43			20		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886187	9886187	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:9886187G>A	uc002koi.4	+	0	465	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	TXNDC2_uc002koh.4_Intron|TXNDC2_uc021ugx.1_5'Flank	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	6					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TGTAGACAAGGAACTAGGAAT	0.428000														28			6		0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13092387	13092387	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:13092387C>T	uc010xac.2	+	33	6195	c.6115C>T	c.(6115-6117)Ccc>Tcc	p.P2039S	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.P1564S|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.P461S|CEP192_uc002krx.3_Missense_Mutation_p.P43S|CEP192_uc002kry.3_Non-coding_Transcript	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1634										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATATGATCTTCCCCAACGACC	0.308000														49			18		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312489	48312489	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48312489C>T	uc003toq.2	+	16	3250	c.3226C>T	c.(3226-3228)Cgt>Tgt	p.R1076C	ABCA13_uc010kyr.2_Missense_Mutation_p.R579C|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1076					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGAAGATTTTCGTATTTCTTT	0.378000														14			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089917	9089917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9089917G>A	uc002mkp.3	-	0	2102	c.1898C>T	c.(1897-1899)tCa>tTa	p.S633L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	633	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						TGTCTCAGATGATGCTGTGGC	0.577000														80			20		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11060364	11060364	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:11060364C>T	uc010hdq.3	+	4	862	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	151					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CATTTACTACCTGTACAACTC	0.582000														36			13		0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49686399	49686399	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49686399C>T	uc002pmw.3	+	11	1781	c.1673C>T	c.(1672-1674)cCc>cTc	p.P558L	TRPM4_uc010emu.3_Missense_Mutation_p.P558L|TRPM4_uc010yak.2_Missense_Mutation_p.P22L|TRPM4_uc002pmx.3_Missense_Mutation_p.P384L|TRPM4_uc010emv.3_Missense_Mutation_p.P443L|TRPM4_uc010yal.2_Missense_Mutation_p.P204L|TRPM4_uc002pmy.3_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	558					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGGCAGGCCCCCTGGAGCGAC	0.627000														41			20		0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93588440	93588440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:93588440C>T	uc010urc.2	-	3	1396	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	RGMA_uc002bsq.2_Missense_Mutation_p.D365N|RGMA_uc021svs.1_Missense_Mutation_p.D365N|RGMA_uc021svt.1_Missense_Mutation_p.D365N|RGMA_uc010boi.2_Missense_Mutation_p.D272N|RGMA_uc002bsr.2_Missense_Mutation_p.D272N|RGMA_uc021svu.1_Missense_Mutation_p.D365N|RGMA_uc002bss.2_Missense_Mutation_p.D381N	NM_001166283	NP_001159761	Q96B86	RGMA_HUMAN	Homo sapiens RGM domain family, member A (RGMA), transcript variant 1, mRNA.	381					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GTGAGGAGGTCGAAGACGCAG	0.592000														22			3		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50055509	50055509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:50055509G>A	uc003jon.4	+	4	399	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	PARP8_uc011cpz.2_Intron|PARP8_uc003joo.3_Missense_Mutation_p.E73K|PARP8_uc003jop.3_Missense_Mutation_p.E73K	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	73						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGAGAATGATGAAGATGTGCT	0.244000														85			16		0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109780861	109780861	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:109780861C>T	uc021xqo.1	-	22	1327	c.1271G>A	c.(1270-1272)gGa>gAa	p.G424E	COL25A1_uc003hze.1_Missense_Mutation_p.G424E|COL25A1_uc021xqp.1_Missense_Mutation_p.G424E|COL25A1_uc003hzg.3_Missense_Mutation_p.G424E|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.G190E	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	424	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTCAGTGGCTCCTTGATCCCC	0.507000														35			12		0	0	1	0	0
DHRS3	9249	broad.mit.edu	37	1	12638970	12638970	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12638970G>A	uc001auc.3	-	3	941	c.474C>T	c.(472-474)ttC>ttT	p.F158F	DHRS3_uc001aub.3_Silent_p.F73F	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	158					retinol metabolic process|visual perception	integral to membrane	NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TACGTGGCAGGAAGGCCTTGG	0.622000														34			7		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30365209	30365209	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:30365209G>A	uc002ymr.2	-	0	69	c.56C>T	c.(55-57)tCt>tTt	p.S19F		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	0							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGCGGCGGAAGAGGACACCCT	0.632000														9			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106376098	106376098	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106376098C>T	uc021ser.1	-	3435		c.54091_splice	c.e3435-1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron|KIAA0125_uc001yss.3_Intron					Parts of antibodies, mostly variable regions.																		GGACCCCCTTCAGCCTGCCCT	0.622000														0			2		0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35060446	35060446	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35060446G>A	uc003zvy.2	-	12	1948	c.1559C>T	c.(1558-1560)cCt>cTt	p.P520L	VCP_uc010mkh.1_Missense_Mutation_p.P189L|VCP_uc010mki.1_Missense_Mutation_p.P475L	NM_007126	NP_009057	P55072	TERA_HUMAN	Homo sapiens valosin containing protein (VCP), mRNA.	520					ER-associated protein catabolic process|activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCCACAGCCAGGAGGTCCATA	0.498000														58			27		0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457306	6457306	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6457306G>A	uc001qnw.3	-	11	2184	c.1920C>T	c.(1918-1920)ttC>ttT	p.F640F	SCNN1A_uc001qnv.3_Silent_p.F281F|SCNN1A_uc001qnx.3_Silent_p.F581F|SCNN1A_uc010sfb.2_Silent_p.F604F	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	581					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GCAGCATGAGGAACATGATGA	0.617000														38			23		0	0	1	0	0
CXCR7	57007	broad.mit.edu	37	2	237489689	237489689	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:237489689C>T	uc021vys.1	+	0	581	c.581C>T	c.(580-582)aCc>aTc	p.T194I	CXCR7_uc010fyq.3_Missense_Mutation_p.T194I|CXCR7_uc002vwd.3_Missense_Mutation_p.T194I	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	194					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		AACAATGAGACCTACTGCCGG	0.587000														112			33		0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128564722	128564722	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:128564722C>T	uc003ifk.2	+	1	296	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	65										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AAATGGAGAGCTGTTTTATTT	0.388000														222			81		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57522853	57522853	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:57522853G>A	uc011kdi.1	+	2	353	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.									p.E81D(1)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAAGAGAAATGAGATGGTAGC	0.408000														114			32		0	0	1	0	0
GNL3L	54552	broad.mit.edu	37	X	54574665	54574665	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:54574665C>T	uc022bxi.1	+	8	890	c.634C>T	c.(634-636)Cgt>Tgt	p.R212C	GNL3L_uc004dti.3_Non-coding_Transcript|GNL3L_uc004dth.2_Missense_Mutation_p.R212C	NM_001184819	NP_061940	Q9NVN8	GNL3L_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar)-like (GNL3L), transcript variant 1, mRNA.	212					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TTTCCAGAATCGTTGCAGTGT	0.478000														5			9		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117669776	117669776	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117669776G>A	uc001twn.2	-	22	4209	c.3498C>T	c.(3496-3498)gtC>gtT	p.V1166V	NOS1_uc021ren.1_Silent_p.V796V|NOS1_uc021reo.1_Silent_p.V796V|NOS1_uc001twm.2_Silent_p.V1132V	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1132	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCTTGCTGAGGACCAGCAGAC	0.557000														17			10		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3795352	3795352	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3795352G>A	uc002cvv.3	-	21	4044	c.3840C>T	c.(3838-3840)ttC>ttT	p.F1280F	CREBBP_uc002cvw.3_Silent_p.F1242F	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1280	Cys/His-rich.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCAATCAACGAAACTAGGAG	0.512000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							21			10		0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148614388	148614388	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:148614388G>A	uc003ewm.3	+	10	1200	c.1148G>A	c.(1147-1149)gGc>gAc	p.G383D		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	383					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.G383V(2)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CGAGATAAAGGCAAATTTGGT	0.433000														66			55		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51165482	51165482	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51165482G>A	uc002psx.1	-	22	6245	c.6226C>T	c.(6226-6228)Ctc>Ttc	p.L2076F	SHANK1_uc002psw.1_Missense_Mutation_p.L1460F	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	2076					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTCGGTGAGAGGGAGCGCGAG	0.682000														42			6		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28273125	28273125	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:28273125C>T	uc009xky.3	-	4	768	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.E224K|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	224							binding	p.E224Q(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GAGGTATATTCAATAGATTCC	0.328000														106			45		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940498	144940498	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144940498G>A	uc003zaa.1	-	0	6937	c.6924C>T	c.(6922-6924)acC>acT	p.T2308T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2308						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGTGTAGCCGGTGACGGCGC	0.706000														260			14		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60912783	60912783	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:60912783G>A	uc002ycq.3	-	16	2094	c.2027_splice	c.e16-1	p.P676_splice	LAMA5_uc021wfw.1_Splice_Site_p.P676_splice	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	676	Laminin EGF-like 7.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAGTGGCAGGCTGCAGACAA	0.662000														38			12		0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53364951	53364951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:53364951G>A	uc003pbw.2	-	14	2078	c.1594C>T	c.(1594-1596)Cct>Tct	p.P532S	GCLC_uc003pbv.1_Missense_Mutation_p.P256S|GCLC_uc021zau.1_Missense_Mutation_p.P494S	NM_001498	NP_001489	P48506	GSH1_HUMAN	Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC), transcript variant 1, mRNA.	532					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	ATCAGTCCAGGAAACACACCT	0.478000														108			20		0	0	1	0	0
FAM118A	55007	broad.mit.edu	37	22	45723824	45723824	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:45723824C>T	uc003bfz.4	+	4	1018	c.402C>T	c.(400-402)atC>atT	p.I134I	FAM118A_uc003bga.4_Silent_p.I134I|DQ586951_uc021wri.1_5'Flank|DQ586951_uc011aqp.1_5'Flank|DQ586951_uc021wrj.1_5'Flank|DQ586951_uc011aqq.1_5'Flank|FAM118A_uc011aqr.2_5'Flank	NM_001104595	NP_060381	Q9NWS6	F118A_HUMAN	Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA.	134						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGCAGTCGATCCTCAGCCTGA	0.617000														41			11		0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2769796	2769796	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:2769796C>T	uc002klm.4	+	37	5013	c.4824C>T	c.(4822-4824)atC>atT	p.I1608I	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	1608					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AACCATATATCCTACCGTTCA	0.363000														10			5		0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104516006	104516006	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:104516006G>A	uc001yom.4	+	34	4066	c.4036G>A	c.(4036-4038)Gag>Aag	p.E1346K	TDRD9_uc001yon.4_Missense_Mutation_p.E893K	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	1346					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AAAGCCCTACGAGTGGAATCA	0.478000														13			5		0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182869233	182869233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:182869233C>T	uc001gpu.3	-	9	2132	c.1847G>A	c.(1846-1848)gGa>gAa	p.G616E	SHCBP1L_uc001gpv.3_Missense_Mutation_p.G497E|SHCBP1L_uc010pnz.2_Missense_Mutation_p.G474E|SHCBP1L_uc001gpw.3_Missense_Mutation_p.G336E	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	688										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TTTTTTATCTCCTGAAGAAGC	0.343000														21			15		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48964967	48964967	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48964967G>A	uc010kyv.1	+	0	811	c.699G>A	c.(697-699)ctG>ctA	p.L233L						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		TTATTCGTCTGAATAAAAGGA	0.413000														29			11		0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39224440	39224440	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:39224440C>T	uc003awk.3	-	1	856	c.702G>A	c.(700-702)aaG>aaA	p.K234K		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	234						integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GCTGGTCCATCTTGGAGTGTA	0.657000														19			8		0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649546	75649546	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:75649546C>T	uc004ecm.2	+	0	1501	c.1223C>T	c.(1222-1224)cCt>cTt	p.P408L		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	408	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGCCTAACCCTGGTGAGGGC	0.627000														16			4		0	0	1	0	0
MTERFD2	130916	broad.mit.edu	37	2	242039285	242039285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242039285G>A	uc002wan.1	-	0	626	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S	MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Missense_Mutation_p.P16S	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	Homo sapiens MTERF domain containing 2 (MTERFD2), transcript variant 1, mRNA.	16			T -> A (in dbSNP:rs3796093).							endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CAGGTGAGGGGGATCAGGCGG	0.498000														33			14		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50733542	50733542	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:50733542G>A	uc002egm.1	+	1	322	c.217G>A	c.(217-219)Ggc>Agc	p.G73S	NOD2_uc010cbj.1_Missense_Mutation_p.G46S|NOD2_uc021tia.1_5'UTR|NOD2_uc010cbk.1_Missense_Mutation_p.G46S|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	73	CARD 1.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGACTACGAGGGCTTCCACCT	0.637000														60			27		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21628917	21628917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:21628917G>A	uc003svc.3	+	11	2096	c.2065G>A	c.(2065-2067)Gaa>Aaa	p.E689K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	689	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TATCTATAATGAATGGAAAAG	0.343000									Kartagener syndrome					75			10		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7759687	7759687	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:7759687G>A	uc001ijs.3	+	5	728	c.566G>A	c.(565-567)aGg>aAg	p.R189K		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	189					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGAAGTGGAGGAAGCTGGGC	0.522000														144			51		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777460	43777460	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:43777460C>T	uc010skx.2	-	30	4698	c.4698G>A	c.(4696-4698)gtG>gtA	p.V1566V		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1566	TSP type-1 13.					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)		CTATTTCATTCACTTGTCTGA	0.368000														44			11		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73680076	73680076	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:73680076C>T	uc002sje.1	+	7	6530	c.6419C>T	c.(6418-6420)tCc>tTc	p.S2140F	ALMS1_uc002sjf.1_Missense_Mutation_p.S2098F|ALMS1_uc002sjg.3_Missense_Mutation_p.S1528F|ALMS1_uc002sjh.1_Missense_Mutation_p.S1528F	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2140	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTTCCTAGTTCCTTTTCACAT	0.413000														80			16		0	0	1	0	0
ZNF491	126069	broad.mit.edu	37	19	11917576	11917576	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11917576C>T	uc002mso.1	+	2	1093	c.808C>T	c.(808-810)Cct>Tct	p.P270S	ZNF491_uc021upj.1_Missense_Mutation_p.P270S	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	Homo sapiens zinc finger protein 491 (ZNF491), mRNA.	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						TGGAGAGAGGCCTCATAAATG	0.408000														75			23		0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298450	107298450	+	Silent	SNP	G	A	A	rs138480673	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107298450G>A	uc004bcb.1	-	0	645	c.645C>T	c.(643-645)ctC>ctT	p.L215L		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AGGCCAGCTTGAGGACAGCTA	0.388000														119			33		0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14306775	14306775	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:14306775C>T	uc021war.1	-	0	1378	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.E460K|FLRT3_uc002wow.2_Missense_Mutation_p.E460K	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	460	Fibronectin type-III.		E -> D (in dbSNP:rs35253731).		cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TCACTGCGTTCCCCTGTTACA	0.463000														84			33		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35771777	35771777	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35771777G>A	uc003jjo.3	+	26	3979	c.3868G>A	c.(3868-3870)Gaa>Aaa	p.E1290K	SPEF2_uc003jjp.1_Missense_Mutation_p.E776K|SPEF2_uc003jjr.3_5'Flank	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1290					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGACCCCAAAGAAAAATCTCC	0.398000														31			20		0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38963059	38963059	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38963059G>A	uc003jlo.2	-	16	1507	c.1485C>T	c.(1483-1485)gaC>gaT	p.D495D	RICTOR_uc003jlp.2_Silent_p.D495D|RICTOR_uc010ivf.2_Silent_p.D210D	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	495					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GAATAATGTGGTCTAAATGAA	0.393000														86			27		0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62647983	62647983	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:62647983C>T	uc001jli.3	-	6	1881	c.1443G>A	c.(1441-1443)aaG>aaA	p.K481K	RHOBTB1_uc009xpe.2_Silent_p.K419K|RHOBTB1_uc001jlh.3_Silent_p.K481K|RHOBTB1_uc001jlj.3_Silent_p.K481K|RHOBTB1_uc001jlk.3_Silent_p.K481K	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	481					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AGAACGTTCCCTTGCTGAGAC	0.473000														30			15		0	0	1	0	0
TFAP4	7023	broad.mit.edu	37	16	4311934	4311934	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:4311934G>A	uc010uxg.2	-	3	625	c.371C>T	c.(370-372)tCc>tTc	p.S124F		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	Homo sapiens transcription factor AP-4 (activating enhancer binding protein 4) (TFAP4), mRNA.	124					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						TCGCTTGGGGGACGAGCCGCT	0.657000											OREG0023575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			8		0	0	1	0	0
SRPK1	6732	broad.mit.edu	37	6	35837432	35837432	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:35837432G>A	uc003olj.3	-	10	1362	c.1238C>T	c.(1237-1239)tCt>tTt	p.S413F	SRPK1_uc003olh.3_Missense_Mutation_p.S306F|SRPK1_uc003oli.3_Missense_Mutation_p.S306F|SRPK1_uc011dtg.2_Missense_Mutation_p.S397F	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	413	Protein kinase.				RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S413Y(2)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						AGGTGTACAAGAGTCTGTTTC	0.418000														44			15		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32059435	32059435	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:32059435C>T	uc003jhl.3	+	12	2679	c.2291C>T	c.(2290-2292)tCa>tTa	p.S764L	PDZD2_uc003jhm.3_Missense_Mutation_p.S764L|PDZD2_uc011cnx.1_Missense_Mutation_p.S590L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	764	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCTCCAGGATCAGTGGCCAAG	0.463000														39			26		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056435	9056435	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9056435G>A	uc002mkp.3	-	2	31215	c.31011C>T	c.(31009-31011)ttC>ttT	p.F10337F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10339	Ser-rich.|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						CAGTGGTAGTGAAGGTTGAAG	0.522000														69			28		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64640081	64640081	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:64640081C>T	uc003dmg.3	-	7	1296	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	ADAMTS9_uc011bfo.2_Missense_Mutation_p.E394K|ADAMTS9_uc003dmh.1_Missense_Mutation_p.E251K|ADAMTS9_uc003dmk.1_Missense_Mutation_p.E422K	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	422	Peptidase M12B.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCACTATCTTCACTAATAGAA	0.398000														178			26		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237796914	237796914	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:237796914C>T	uc001hyl.1	+	42	6712	c.6592C>T	c.(6592-6594)Cgt>Tgt	p.R2198C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2198	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	p.R2196S(1)		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)			CAACTGTTGCCGTTTTCTCTG	0.388000														139			45		0	0	1	0	0
KIAA0825	285600	broad.mit.edu	37	5	93856513	93856513	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:93856513G>A	uc011cuk.2	-	4	667	c.410C>T	c.(409-411)tCt>tTt	p.S137F	KIAA0825_uc003kkp.2_Missense_Mutation_p.S137F	NM_001145678	NP_001139150	Q8IV33	K0825_HUMAN	Homo sapiens KIAA0825 (KIAA0825), transcript variant 1, mRNA.	137										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						GAAATGGAAAGATGTTCCACT	0.413000														42			13		0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241528843	241528843	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241528843C>T	uc002vzk.2	+	1	421	c.225C>T	c.(223-225)ttC>ttT	p.F75F	CAPN10_uc010zoh.2_Silent_p.F75F|CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Silent_p.F75F|CAPN10_uc002vzn.2_5'UTR|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Silent_p.F75F	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	75	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		ATTGCTGGTTCCTGTGTGCCT	0.602000														120			51		0	0	1	0	0
CPPED1	55313	broad.mit.edu	37	16	12798716	12798716	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:12798716G>A	uc002dca.4	-	2	591	c.480C>T	c.(478-480)ttC>ttT	p.F160F	CPPED1_uc002dcb.4_Intron	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	160							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGAGGACCAGGAACAGGACGC	0.617000														43			14		0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34257603	34257603	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34257603G>A	uc002xdw.2	-	12	1392	c.1315C>T	c.(1315-1317)Ctc>Ttc	p.L439F	CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|NFS1_uc002xdt.2_Missense_Mutation_p.L379F|NFS1_uc010zvl.2_Missense_Mutation_p.L388F|NFS1_uc010zvk.2_Missense_Mutation_p.L237F	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	439					Mo-molybdopterin cofactor biosynthetic process|cysteine metabolic process|iron incorporation into metallo-sulfur cluster|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	ATCTCCCAGAGAGGGCTGCCA	0.527000														72			35		0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57970952	57970952	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57970952G>A	uc010rkb.2	-	0	702	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	234					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)				CAGCTCTGATGATGCAGACAT	0.438000														60			20		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156526	22156526	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22156526G>A	uc021urr.1	-	3	1459	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.W436R(1)		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)				AAGGTTTGAGGACCAGTTGAA	0.373000														80			34		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181721295	181721295	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181721295G>A	uc009wxt.3	+	26	3943	c.3748G>A	c.(3748-3750)Gac>Aac	p.D1250N	CACNA1E_uc001gow.3_Missense_Mutation_p.D1250N|CACNA1E_uc009wxs.3_Missense_Mutation_p.D1231N|CACNA1E_uc001gox.1_Missense_Mutation_p.D476N	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1250					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.D1250A(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						CAAAGGACGGGACATCAAGAC	0.478000														73			26		0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35786728	35786728	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35786728G>A	uc002nyy.2	+	3	457	c.259G>A	c.(259-261)Ggc>Agc	p.G87S	MAG_uc002nyx.2_Missense_Mutation_p.G87S|MAG_uc010eds.2_Missense_Mutation_p.G62S|MAG_uc002nyz.2_Missense_Mutation_p.G87S	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	87	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GAGCTTCCAGGGCCGCAGCCG	0.632000														167			58		0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45807055	45807055	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:45807055C>T	uc011bai.2	-	7	1401	c.1277G>A	c.(1276-1278)aGc>aAc	p.S426N	SLC6A20_uc003cow.3_Missense_Mutation_p.S76N|SLC6A20_uc011baj.2_Missense_Mutation_p.S389N	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	426					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGGCAGGTGGCTGGAGATGAT	0.632000														17			9		0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150868557	150868557	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:150868557G>A	uc022cgt.1	+	2	146	c.97G>A	c.(97-99)Gag>Aag	p.E33K	PRRG3_uc004few.2_Missense_Mutation_p.E33K	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	33	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCACCATCGAGCGAGAGTG	0.562000														20			26		0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215301392	215301392	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:215301392G>A	uc002vet.2	+	2	560	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	VWC2L_uc010zjl.1_Intron	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	144	VWFC 2.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						GCCCAGCAATGAAGTTCACTG	0.443000														47			12		0	0	1	0	0
C1orf88	128344	broad.mit.edu	37	1	111889590	111889591	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111889590_111889591CC>TT	uc001eaw.2	+	1	158_159	c.78_79CC>TT	c.(76-81)ttccat>ttTTat	p.H27Y	C1orf88_uc001eax.2_Missense_Mutation_p.H27Y|C1orf88_uc009wge.1_Missense_Mutation_p.H27Y	NM_181643	NP_857594	Q8TCI5	CA088_HUMAN	Homo sapiens chromosome 1 open reading frame 88 (C1orf88), mRNA.	27										breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)	14		all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135)		TTCCTCACTTCCATCCCCCGAA	0.490000														70			25		0	0	1	0	0
WFDC10B	280664	broad.mit.edu	37	20	44333610	44333610	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44333610C>T	uc002xpc.3	-	0	49	c.21G>A	c.(19-21)agG>agA	p.R7R	WFDC10B_uc002xpb.3_5'UTR|WFDC13_uc002xpd.3_Intron	NM_172131	NP_742143	Q8IUB3	WF10B_HUMAN	Homo sapiens WAP four-disulfide core domain 10B (WFDC10B), transcript variant 2, mRNA.	0						extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				TTTTGCTTGCCCTCCTTTCAC	0.483000														157			40		0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137627780	137627780	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:137627780G>A	uc003lcs.1	-	7	1075	c.875C>T	c.(874-876)tCc>tTc	p.S292F	CDC25C_uc003lcp.1_Missense_Mutation_p.S214F|CDC25C_uc003lcq.1_Missense_Mutation_p.S141F|CDC25C_uc003lcr.1_Missense_Mutation_p.S214F|CDC25C_uc011cyp.1_Missense_Mutation_p.S231F	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	214					DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATCGACGGGGAGCGATATAG	0.438000														133			59		0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168479715	168479715	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:168479715G>A	uc003qwo.4	-	0	125	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	20						cytoskeleton	binding	p.T19M(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTGAAGGAGGGAACGTGTCAG	0.662000														37			15		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543009	28543009	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28543009G>A	uc003nlo.3	-	2	2091	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	491	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AGTGTGATGAGTTGTTAGTTT	0.433000														104			48		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278822	152278822	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152278822G>A	uc001ezu.1	-	2	8576	c.8540C>T	c.(8539-8541)tCa>tTa	p.S2847L		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2847	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGTCTCCTGATTGTTCCTC	0.567000									Ichthyosis					698			103		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64594815	64594815	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64594815G>A	uc001obs.4	-	32	4206	c.4206C>T	c.(4204-4206)ttC>ttT	p.F1402F		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1402					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						TCTTGGTGCGGAACAGCTGGC	0.652000														121			27		0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013066	142013066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142013066C>T	uc003vxg.3	+	0	60	c.31C>T	c.(31-33)Ctc>Ttc	p.L11F	TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTGTGCGGTTCTCTGTCTCCT	0.592000														57			32		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23713758	23713758	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23713758C>T	uc002dma.4	-	9	1347	c.1178G>A	c.(1177-1179)aGa>aAa	p.R393K	ERN2_uc010bxp.3_Missense_Mutation_p.R393K|ERN2_uc010bxq.1_Missense_Mutation_p.R201K	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	345					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGAGGGGTATCTAACAGCAGT	0.582000														140			51		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14465696	14465696	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:14465696C>T	uc003jff.3	+	36	5716	c.5710C>T	c.(5710-5712)Ccg>Tcg	p.P1904S	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.P1553S	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1904					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTCCGAAACACCGAGTGCAGC	0.517000														97			11		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65789011	65789011	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65789011C>T	uc001ogt.3	-	3	1785	c.1647G>A	c.(1645-1647)aaG>aaA	p.K549K		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	549					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCCGCAGGCTCTTGAAGACCT	0.612000														28			7		0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113059742	113059742	+	Splice_Site	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:113059742G>C	uc001ecb.3	+	4	1197	c.682_splice	c.e4-1	p.A228_splice	WNT2B_uc001eca.3_Splice_Site_p.A209_splice|WNT2B_uc009wgg.3_Splice_Site_p.A136_splice	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA.	228					Wnt receptor signaling pathway, calcium modulating pathway|chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTCCCCCAGGCTGTGCGGC	0.567000														70			20		0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49206576	49206576	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49206576G>A	uc002pke.4	+	1	474	c.363G>A	c.(361-363)agG>agA	p.R121R	FUT2_uc010emc.3_Silent_p.R121R|FUT2_uc021uwx.1_Silent_p.R121R	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA.	121					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CGGCCAGCAGGATCCCCTGGC	0.657000														53			28		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38646287	38646287	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38646287G>A	uc021wvo.1	-	9	1503	c.1451C>T	c.(1450-1452)tCa>tTa	p.S484L	SCN5A_uc021wvk.1_Missense_Mutation_p.S484L|SCN5A_uc021wvl.1_Missense_Mutation_p.S484L|SCN5A_uc021wvm.1_Missense_Mutation_p.S484L|SCN5A_uc021wvn.1_Missense_Mutation_p.S484L|SCN5A_uc021wvp.1_Missense_Mutation_p.S484L|SCN5A_uc021wvq.1_Missense_Mutation_p.S484L|SCN5A_uc021wvr.1_Missense_Mutation_p.S484L|SCN5A_uc021wvs.1_Missense_Mutation_p.S484L|SCN5A_uc021wvt.1_Missense_Mutation_p.S484L|SCN5A_uc021wvu.1_Missense_Mutation_p.S484L|SCN5A_uc021wvv.1_Missense_Mutation_p.S484L|SCN5A_uc021wvj.1_Missense_Mutation_p.S350L|SCN5A_uc021wvi.1_Missense_Mutation_p.S350L|SCN5A_uc021wvw.1_Missense_Mutation_p.S95L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	484					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCAGTTCCTGAAGACATCCG	0.542000														42			8		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7439304	7439304	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7439304C>T	uc001mfe.3	+	4	1519	c.1282C>T	c.(1282-1284)Cct>Tct	p.P428S	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	428	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTTTGATGTCCCTCCCGAGAA	0.478000														77			17		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227985818	227985818	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:227985818C>T	uc021vxr.1	-	3	340	c.239G>A	c.(238-240)gGa>gAa	p.G80E	COL4A4_uc021vxs.1_Missense_Mutation_p.G80E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	80	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCTGGGGCTCCCAGGGGTCC	0.547000														45			11		0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100155173	100155173	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:100155173G>A	uc001dsg.3	+	6	1800	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	453	Poly-Glu.				regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		TGAGGAGGAGGAGGATGAAGG	0.483000														59			21		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906683	164906683	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:164906683G>A	uc003fej.4	-	1	2380	c.1936C>T	c.(1936-1938)Cct>Tct	p.P646S	SLITRK3_uc003fek.3_Missense_Mutation_p.P646S|SLITRK3_uc021xgy.1_Missense_Mutation_p.P646S	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	646						integral to membrane		p.P646H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCCCCAGGAGGAGAAAACTCA	0.532000										HNSCC(40;0.11)				27			10		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17809054	17809054	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:17809054G>A	uc003ncg.4	-	17	2268	c.2108C>T	c.(2107-2109)aCc>aTc	p.T703I	KIF13A_uc003ncf.3_Missense_Mutation_p.T703I|KIF13A_uc003nch.4_Missense_Mutation_p.T703I|KIF13A_uc003nci.4_Missense_Mutation_p.T703I	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	703					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTGGTAATCGGTGAGTTTGCT	0.473000														29			11		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25785868	25785868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:25785868C>T	uc003gru.4	-	13	2414	c.2262G>A	c.(2260-2262)atG>atA	p.M754I	SEL1L3_uc003grv.3_Missense_Mutation_p.M161I	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	754						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTGCTTTCTTCATCAGCTCTA	0.443000														145			80		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113527243	113527243	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:113527243G>A	uc003iau.3	-	8	2934	c.2723C>T	c.(2722-2724)tCt>tTt	p.S908F	C4orf21_uc003iaw.3_Missense_Mutation_p.S908F	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	908										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCCCGAGGAAGAGAACTAGGA	0.323000														69			31		0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3654066	3654066	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3654066G>A	uc002wit.3	-	10	1155	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	ADAM33_uc002wir.1_Silent_p.D356D|ADAM33_uc002wis.3_5'UTR|ADAM33_uc002wiu.3_Silent_p.D356D|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Silent_p.D368D|ADAM33_uc010zqh.1_Missense_Mutation_p.T382I	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	356	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						AGCCGTCGGGGTCGTGGCTGA	0.766000														5			5		0	0	1	0	0
RPL13AP3	645683	broad.mit.edu	37	14	56233097	56233097	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:56233097G>A	uc010aos.3	+	0		c.135G>A								Homo sapiens ribosomal protein L13a pseudogene 3 (RPL13AP3), non-coding RNA.																		AACCCTTTTCGAAGCGCCTAC	0.572000														18			7		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11630225	11630225	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:11630225G>A	uc021zzo.1	-	3	1567	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	THSD7A_uc021zzn.1_Missense_Mutation_p.P439S	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	439	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGAGCAAAGGGTCCACACGG	0.537000										HNSCC(18;0.044)				26			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179571363	179571363	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179571363G>A	uc021vsy.1	-	98	25731	c.25506C>T	c.(25504-25506)ttC>ttT	p.F8502F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F5163F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9429	Ig-like 67.						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)			TTTGGTGGATGAAAACACGAC	0.453000														185			36		0	0	1	0	0
IL1RN	3557	broad.mit.edu	37	2	113890437	113890437	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113890437G>A	uc002tjb.3	+	3	587	c.523G>A	c.(523-525)Gag>Aag	p.E175K	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Missense_Mutation_p.E178K|IL1RN_uc002tiy.3_Missense_Mutation_p.E141K|IL1RN_uc002tja.3_Missense_Mutation_p.E157K	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	175					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	CTACTTCCAGGAGGACGAGTA	0.612000									Lichen Sclerosis et Atrophicus, Familial Clustering of					99			11		0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87913508	87913508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87913508C>T	uc022agz.1	-	2	300	c.77G>A	c.(76-78)gGa>gAa	p.G26E	STEAP4_uc003ujs.3_Missense_Mutation_p.G26E|STEAP4_uc010lek.3_Missense_Mutation_p.G26E	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	26					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ATCACCAGTTCCAAAAATACA	0.383000														78			16		0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160431725	160431725	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:160431725C>T	uc003qta.3	+	3	569	c.421C>T	c.(421-423)Cct>Tct	p.P141S		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	141					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATAGGGAACTCCTGAATTTGT	0.333000														34			21		0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98715483	98715483	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98715483C>T	uc001kmu.2	+	7	1669	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	C10orf12_uc001kmr.3_Missense_Mutation_p.S369F|C10orf12_uc001kms.2_Missense_Mutation_p.S369F|C10orf12_uc009xvg.2_Intron|C10orf12_uc021pwp.1_Missense_Mutation_p.S109F	NM_032440	NP_115816	Q8N655	CJ012_HUMAN	Homo sapiens ligand dependent nuclear receptor corepressor (LCOR), transcript variant 1, mRNA.	663										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ATGAGTGTTTCCAAAGCTCAG	0.438000														40			26		0	0	1	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29736612	29736612	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:29736612C>T	uc003tai.3	+	4		c.431C>T								Homo sapiens dpy-19-like 2 pseudogene 3 (C. elegans) (DPY19L2P3), transcript variant 1, non-coding RNA.																		GAAAGTTTTTCCTATCCATTT	0.313000														32			10		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200943915	200943915	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:200943915C>T	uc001gvs.2	-	33	5058	c.4741G>A	c.(4741-4743)Ggt>Agt	p.G1581S	KIF21B_uc009wzl.2_Missense_Mutation_p.G1581S|KIF21B_uc001gvr.2_Missense_Mutation_p.G1568S|KIF21B_uc010ppn.2_Missense_Mutation_p.G1568S	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1581					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTGATCTCACCGATGGGTGTG	0.612000														82			42		0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148768966	148768966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:148768966G>A	uc003wfh.2	-	3	1035	c.898C>T	c.(898-900)Cca>Tca	p.P300S	ZNF786_uc011kuk.1_Missense_Mutation_p.P263S|ZNF786_uc003wfi.2_Missense_Mutation_p.P214S	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTGCCGCATGGGGTGCACTGG	0.706000														23			8		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77409717	77409717	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:77409717G>A	uc001oyn.3	-	6	2650	c.2530C>T	c.(2530-2532)Cga>Tga	p.R844*	RSF1_uc001oym.3_Nonsense_Mutation_p.R592*	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	844					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	p.R844*(2)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CCAGTCCATCGAACTTTGCCT	0.368000														154			38		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595369	55595369	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55595369C>T	uc001nhy.1	+	0	675	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCACCACTATCCTGAAGATAC	0.483000										HNSCC(27;0.073)				103			45		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140174721	140174721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140174721G>A	uc003lhd.2	+	0	278	c.172G>A	c.(172-174)Gag>Aag	p.E58K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E58K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E58K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	71	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGAGGAGCTGGTGCC	0.632000														135			76		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115341719	115341719	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115341719A>T	uc001lai.4	+	8	1026	c.923A>T	c.(922-924)gAg>gTg	p.E308V	HABP2_uc021pyr.1_Missense_Mutation_p.E282V|HABP2_uc010qrz.1_Intron	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	308					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		GAGATAGCAGAGAGGAAGATC	0.557000														124			46		0	0	1	0	0
SHF	90525	broad.mit.edu	37	15	45491118	45491118	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45491118G>A	uc001zuy.3	-	1	650	c.155C>T	c.(154-156)cCc>cTc	p.P52L	TRNA_uc021skk.1_5'Flank|TRNA_uc021skl.1_5'Flank	NM_138356	NP_612365	B3KTY1	B3KTY1_HUMAN	Homo sapiens Src homology 2 domain containing F (SHF), mRNA.	52										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GGAGTTTAGGGGAGACGGCGT	0.602000											OREG0023105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			14		0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3211823	3211823	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3211823G>A	uc010zqe.2	-	8	1268	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	SLC4A11_uc002wig.3_Silent_p.F354F|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.F338F	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	354	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGTACAAGGGGAACCTGCGTG	0.602000														145			41		0	0	1	0	0
PMCH	5367	broad.mit.edu	37	12	102591323	102591323	+	Missense_Mutation	SNP	C	T	T	rs141964854		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:102591323C>T	uc001tjl.3	-	0	292	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_002674	NP_002665	P20382	MCH_HUMAN	Homo sapiens pro-melanin-concentrating hormone (PMCH), mRNA.	76					cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission		melanin-concentrating hormone activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						TTTTCCTCTTCGTTCATGAAA	0.348000														84			24		0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116811507	116811507	+	Missense_Mutation	SNP	C	T	T	rs141487834	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116811507C>T	uc004bid.3	+	14	2024	c.1925C>T	c.(1924-1926)tCg>tTg	p.S642L	ZNF618_uc004bic.3_Missense_Mutation_p.S549L|ZNF618_uc011lxi.2_Missense_Mutation_p.S609L|ZNF618_uc011lxj.2_Missense_Mutation_p.S610L|ZNF618_uc010mvb.3_Missense_Mutation_p.S232L	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GCCTTGAACTCGGTGGTGCAG	0.642000														57			7		0	0	1	0	0
PPM1B	5495	broad.mit.edu	37	2	44429000	44429000	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:44429000C>T	uc002rtt.3	+	1	1090	c.662C>T	c.(661-663)tCt>tTt	p.S221F	PPM1B_uc002rts.3_Missense_Mutation_p.S221F|PPM1B_uc002rtu.3_Missense_Mutation_p.S221F|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Missense_Mutation_p.S221F|PPM1B_uc002rtx.3_Missense_Mutation_p.S221F	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	221					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAACTTGTTTCTCCAGAGCCT	0.423000														58			24		0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	20003140	20003140	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:20003140C>T	uc002noj.3	+	3	1176	c.1084C>T	c.(1084-1086)Cat>Tat	p.H362Y	ZNF253_uc002nok.3_Missense_Mutation_p.H286Y|ZNF253_uc002nol.3_Non-coding_Transcript	NM_021047	NP_066385	O75346	ZN253_HUMAN	Homo sapiens zinc finger protein 253 (ZNF253), mRNA.	362				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAAGATACTTCATACTGGAGA	0.383000														90			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070072	9070073	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9070072_9070073CC>TT	uc002mkp.3	-	2	17577_17578	c.17373_17374GG>AA	c.(17371-17376)gaggag>gaAAag	p.E5792K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5794	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						GTGTTGATCTCCTCAGACGTCC	0.460000														51			25		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54784155	54784155	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54784155C>T	uc002qfb.3	-	3	301	c.35_splice	c.e3-1	p.G12_splice	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Splice_Site_p.G12_splice|LILRB2_uc010erj.3_Splice_Site|LILRB2_uc002qfc.3_Splice_Site_p.G12_splice|LILRB2_uc010yet.2_Intron|LILRB2_uc010yeu.1_Splice_Site|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	12					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGACTCAGCCCTGGAAGAGAG	0.647000														115			8		0	0	1	0	0
VCX3B	425054	broad.mit.edu	37	X	8434313	8434313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:8434313G>A	uc011mht.2	+	2	937	c.630G>A	c.(628-630)atG>atA	p.M210I	VCX3B_uc004csd.1_Missense_Mutation_p.M160I|VCX3B_uc022bsj.1_5'Flank	NM_001001888	NP_001001888	Q9H321	VCX3B_HUMAN	Homo sapiens variable charge, X-linked 3B (VCX3B), mRNA.	210	11 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						AGAGCGAGATGGAAGAACCAC	0.562000														195			41		0	0	1	0	0
T	6862	broad.mit.edu	37	6	166581001	166581001	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:166581001C>T	uc003qut.1	-	0	365	c.79G>A	c.(79-81)Gag>Aag	p.E27K	T_uc003quu.1_Missense_Mutation_p.E27K|T_uc003quv.1_Missense_Mutation_p.E27K	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	27					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GCCTGCAGCTCATTCTCCACG	0.682000									Chordoma, Familial Clustering of					9			7		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41949551	41949551	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:41949551C>T	uc010skn.2	+	6	1362	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	PDZRN4_uc001rmq.4_Missense_Mutation_p.R194W|PDZRN4_uc009zjz.3_Missense_Mutation_p.R192W|PDZRN4_uc001rmr.3_Missense_Mutation_p.R79W	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	452	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGAAGGGGATCGGATTTTGCA	0.408000														106			19		0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110494919	110494919	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:110494919C>T	uc004epc.2	-	5	942	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	CAPN6_uc011msu.2_5'UTR	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	251	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TAGGTATGGCCCTTCAGCAGA	0.448000														110			141		0	0	1	0	0
WHAMM	123720	broad.mit.edu	37	15	83499498	83499498	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83499498C>T	uc002bje.3	+	8	2295	c.1789C>T	c.(1789-1791)Ccc>Tcc	p.P597S		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules (WHAMM), mRNA.	597						ER-Golgi intermediate compartment|Golgi apparatus|cytoplasmic vesicle membrane	actin binding			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						TAGAGGTGTTCCCCTATCGGA	0.488000														75			26		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141660725	141660725	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141660725G>A	uc002tvj.1	-	22	4502	c.3530C>T	c.(3529-3531)tCg>tTg	p.S1177L	LRP1B_uc010fnl.1_Missense_Mutation_p.S359L	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1177					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTGTTCAGCGAACACTCATC	0.393000										TSP Lung(27;0.18)				51			28		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87373272	87373272	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:87373272G>A	uc001kdl.1	-	14	2594	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Silent_p.F402F	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	831						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGACCCCGGCGAAGCTGTGCA	0.652000										Multiple Myeloma(13;0.14)				51			21		0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128775310	128775310	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:128775310G>A	uc010fmd.2	-	2	502	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S	SAP130_uc002tpp.2_Missense_Mutation_p.P124S|SAP130_uc002tpq.1_Missense_Mutation_p.P98S	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	124	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGTGCTGGCGGGGCTGTCACT	0.537000														75			8		0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89844102	89844102	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:89844102G>A	uc001dnf.2	+	4	829	c.555G>A	c.(553-555)ctG>ctA	p.L185L	GBP6_uc010ost.1_Silent_p.L55L	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	185							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ATTTCACTCTGGAGCTGAAGT	0.483000														102			31		0	0	1	0	0
SLC16A3	9123	broad.mit.edu	37	17	80195264	80195264	+	Silent	SNP	G	A	A	rs5822442		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:80195264G>A	uc002kea.3	+	3	768	c.618G>A	c.(616-618)ccG>ccA	p.P206P	SLC16A3_uc021ufm.1_Silent_p.P206P|SLC16A3_uc002keb.3_Silent_p.P206P|SLC16A3_uc002kec.3_Silent_p.P206P|SLC16A3_uc002ked.3_Silent_p.P206P|SLC16A3_uc021ufn.1_Silent_p.P206P|SLC16A3_uc021ufo.1_Silent_p.P206P	NM_001042422	NP_004198	O15427	MOT4_HUMAN	Homo sapiens solute carrier family 16, member 3 (monocarboxylic acid transporter 4) (SLC16A3), transcript variant 2, mRNA.	206					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	CGGCCCAGCCGGGCTCGGGGC	0.721000														6			3		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936471	4936471	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4936471G>A	uc001lzr.1	-	0	423	c.423C>T	c.(421-423)ctC>ctT	p.L141L		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTGTTGGTGAGAATGGAAA	0.478000														52			12		0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177034349	177034349	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:177034349G>A	uc002ukt.1	+	1	683	c.507G>A	c.(505-507)caG>caA	p.Q169Q		NM_006898	NP_008829	P31249	HXD3_HUMAN	Homo sapiens homeobox D3 (HOXD3), mRNA.	169					Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		AGTCTCGACAGAACTCCAAGC	0.572000														111			52		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1544488	1544488	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1544488C>T	uc002qwr.3	+	15	2827	c.2741C>T	c.(2740-2742)tCg>tTg	p.S914L	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.S914L|TPO_uc002qwx.3_Missense_Mutation_p.S857L|TPO_uc002qwu.3_Missense_Mutation_p.S857L|TPO_uc010yio.2_Missense_Mutation_p.S741L|TPO_uc010yip.2_Missense_Mutation_p.S870L|TPO_uc002qwy.1_Missense_Mutation_p.S210L|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	914					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCTCAGGACTCGGAGCAGGTG	0.652000														45			21		0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145895603	145895603	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:145895603C>T	uc003lod.1	-	0	74	c.74G>A	c.(73-75)gGa>gAa	p.G25E		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	25						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGTACCCTCCGGCAAAGTG	0.542000														150			14		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55421032	55421032	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55421032C>T	uc001sgp.4	+	1	1187	c.809C>T	c.(808-810)tCt>tTt	p.S270F	NEUROD4_uc021qyr.1_Missense_Mutation_p.S270F	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	270					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CAAGATGGGTCTCCTGACCTA	0.522000														172			50		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218305	130218305	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:130218305G>A	uc004evz.3	+	4	1017	c.672G>A	c.(670-672)agG>agA	p.R224R	ARHGAP36_uc004ewa.3_Silent_p.R212R|ARHGAP36_uc004ewb.3_Silent_p.R193R|ARHGAP36_uc004ewc.3_Silent_p.R88R	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	224					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GATCCAAAAGGAAGATGAGTC	0.478000														12			26		0	0	1	0	0
SLC22A5	6584	broad.mit.edu	37	5	131729429	131729429	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:131729429C>T	uc003kwx.4	+	9	1848	c.1584C>T	c.(1582-1584)atC>atT	p.I528I	SLC22A5_uc003kww.4_Silent_p.I504I|SLC22A5_uc010jdr.1_Silent_p.I124I	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	504					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|PDZ domain binding|carnitine transporter activity|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TGACAGCCATCCTCACCTTGT	0.552000														183			86		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333092	70333092	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70333092G>T	uc001oqc.3	-	20	3220	c.3108C>A	c.(3106-3108)ttC>ttA	p.F1036L	SHANK2_uc010rqn.2_Missense_Mutation_p.F512L|SHANK2_uc001opz.3_Missense_Mutation_p.F507L|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	723					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTGTGGAGAGGAAGGCCGGGG	0.692000														42			19		4.96729e-08	4.9808e-08	1	1	0
PIP5K1B	8395	broad.mit.edu	37	9	71532629	71532629	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:71532629G>A	uc004agu.3	+	8	1242	c.937G>A	c.(937-939)Ggt>Agt	p.G313S	PIP5K1B_uc011lrq.2_Missense_Mutation_p.G313S|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	313	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		ATCTATCCAGGGTCCAGGGAA	0.527000														94			24		0	0	1	0	0
HOXC10	3226	broad.mit.edu	37	12	54379177	54379177	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54379177G>A	uc001sen.3	+	0	232	c.134G>A	c.(133-135)aGg>aAg	p.R45K		NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	Homo sapiens homeobox C10 (HOXC10), mRNA.	45					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R45K(2)		endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						GGGGTGATGAGGGGCTGCGGG	0.662000														58			13		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170805228	170805228	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:170805228G>A	uc003fhh.2	-	23	3134	c.2789C>T	c.(2788-2790)cCt>cTt	p.P930L	TNIK_uc003fhi.2_Missense_Mutation_p.P875L|TNIK_uc003fhj.2_Missense_Mutation_p.P901L|TNIK_uc003fhk.2_Missense_Mutation_p.P922L|TNIK_uc003fhl.2_Missense_Mutation_p.P846L|TNIK_uc003fhm.2_Missense_Mutation_p.P867L|TNIK_uc003fhn.2_Missense_Mutation_p.P893L|TNIK_uc003fho.2_Missense_Mutation_p.P838L|TNIK_uc003fhg.2_Missense_Mutation_p.P108L	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	930	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CACCAGGTCAGGGAGGTTGAT	0.587000														82			28		0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14504625	14504625	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:14504625G>A	uc001mlh.2	-	7	1156	c.910C>T	c.(910-912)Cgc>Tgc	p.R304C	COPB1_uc001mli.2_Missense_Mutation_p.R304C|COPB1_uc001mlg.2_Missense_Mutation_p.R304C	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	304					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TCTATCAAGCGATCCAAAACT	0.308000														45			19		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942442	144942442	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144942442C>T	uc003zaa.1	-	0	4993	c.4980G>A	c.(4978-4980)caG>caA	p.Q1660Q		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1660						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAGGGAGATCTGCTGCCCGG	0.642000														74			34		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50610836	50610836	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:50610836G>A	uc001csb.2	+	1	485	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	ELAVL4_uc001cry.3_Missense_Mutation_p.E76K|ELAVL4_uc001crz.3_Missense_Mutation_p.E73K|ELAVL4_uc001csa.3_Missense_Mutation_p.E90K|ELAVL4_uc001csc.3_Missense_Mutation_p.E73K|ELAVL4_uc009vyu.3_Missense_Mutation_p.E78K|ELAVL4_uc010omz.2_Missense_Mutation_p.E78K	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	73	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TGGTGAAATAGAATCCTGCAA	0.413000														96			23		0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39890852	39890852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39890852C>T	uc002hxm.1	-	0	47	c.35G>A	c.(34-36)gGg>gAg	p.G12E	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.G12E|HAP1_uc002hxo.1_Missense_Mutation_p.G12E|HAP1_uc002hxp.1_Missense_Mutation_p.G12E	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	12					brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GAGCCGGCTCCCCGCGCAGCA	0.736000														5			3		0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	136974658	136974658	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:136974658G>A	uc010jek.3	-	9	1647	c.1203C>T	c.(1201-1203)ggC>ggT	p.G401G	KLHL3_uc011cyc.2_Silent_p.G170G|KLHL3_uc003lbr.4_Silent_p.G319G|KLHL3_uc011cyd.2_Intron|KLHL3_uc010jel.1_Silent_p.G170G|KLHL3_uc010jem.1_Silent_p.G361G	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	401						cytoplasm|cytoskeleton	actin binding|structural molecule activity	p.G401G(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TGCCATCAAAGCCTCCCACTG	0.582000														21			8		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36269678	36269678	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:36269678C>T	uc010jwf.2	+	5	816	c.816C>T	c.(814-816)ttC>ttT	p.F272F	PNPLA1_uc010jwe.1_Silent_p.F186F|PNPLA1_uc003olw.1_Silent_p.F177F	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	272					lipid catabolic process		hydrolase activity	p.L271P(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GAGTGATTTTCCCCCGGGTGG	0.517000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			27		0	0	1	0	0
MIR205HG	642587	broad.mit.edu	37	1	209602708	209602708	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:209602708C>T	uc009xcn.3	+	1	449	c.66C>T	c.(64-66)gtC>gtT	p.V22V	MIR205HG_uc010psk.2_5'Flank	NM_001104548	NP_001098018			Homo sapiens MIR205 host gene (non-protein coding) (MIR205HG), mRNA.																		CCTCAGGAGTCATTTCTGTTC	0.488000														21			5		0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74308080	74308080	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:74308080C>T	uc003hgz.1	+	4	597	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	AFP_uc011cbg.1_5'UTR	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	184	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGGGCTGCTCGCTATGACAA	0.373000									Alpha-Fetoprotein, Hereditary Persistence of					63			13		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68649559	68649559	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:68649559C>T	uc010bib.3	-	6	766	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	ITGA11_uc002ari.3_Missense_Mutation_p.E227K	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	227	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CTGGCAGCTTCCACCACATCT	0.468000														46			39		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56083794	56083794	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:56083794G>A	uc010giw.1	-	8	1653	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	CTCFL_uc010gix.1_Silent_p.F514F|CTCFL_uc002xym.2_Silent_p.F514F|CTCFL_uc010gjb.1_Silent_p.F514F|CTCFL_uc010gja.1_Silent_p.F464F|CTCFL_uc010gjc.1_Silent_p.F514F|CTCFL_uc010gjd.1_Silent_p.F514F|CTCFL_uc010gje.3_Silent_p.F514F|CTCFL_uc010gjg.3_Silent_p.F246F|CTCFL_uc010gjf.3_Silent_p.F309F|CTCFL_uc010gjh.2_Silent_p.F370F|CTCFL_uc010gji.2_Silent_p.F309F|CTCFL_uc010gjj.2_Silent_p.F514F|CTCFL_uc010giu.3_5'Flank|CTCFL_uc010giv.3_5'Flank	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	514					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AAAGGCAGGTGAATGGTTTCT	0.438000														98			34		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103324856	103324856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103324856G>A	uc002tca.3	+	11	2489	c.2347G>A	c.(2347-2349)Gaa>Aaa	p.E783K		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	783						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CAGTTTGACTGAAGGCATCCC	0.577000														119			36		0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223465828	223465828	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:223465828C>T	uc001hnx.3	-	1	948	c.314G>A	c.(313-315)gGa>gAa	p.G105E	SUSD4_uc001hny.4_Missense_Mutation_p.G105E|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Missense_Mutation_p.G105E|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	105	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GCCTAGGGTTCCATTAAAATG	0.478000														146			65		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101198189	101198189	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:101198189G>A	uc001dti.3	+	6	1962	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	VCAM1_uc010ouj.2_Missense_Mutation_p.G519R|VCAM1_uc001dtj.3_Missense_Mutation_p.G489R	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	581	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTTATGTGAAGGAATTAACCA	0.413000														137			55		0	0	1	0	0
NBR1	4077	broad.mit.edu	37	17	41342735	41342735	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:41342735C>T	uc010whv.2	+	8	888	c.805C>T	c.(805-807)Ccg>Tcg	p.P269S	NBR1_uc010czd.3_Missense_Mutation_p.P269S|NBR1_uc010diz.3_Missense_Mutation_p.P269S|NBR1_uc010whu.2_Missense_Mutation_p.P269S|NBR1_uc010whw.2_Missense_Mutation_p.P248S|NBR1_uc010whx.1_Missense_Mutation_p.P78S	NM_005899	NP_114068	Q14596	NBR1_HUMAN	Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 1, mRNA.	269					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CTCCTCTGAACCGTTCTGTCA	0.478000														16			15		0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17543308	17543308	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:17543308C>T	uc003ncb.3	+	10	1386	c.1143C>T	c.(1141-1143)ctC>ctT	p.L381L	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Silent_p.L355L|CAP2_uc011djb.2_Silent_p.L317L|CAP2_uc011djc.2_Silent_p.L269L|CAP2_uc011djd.2_Silent_p.L121L	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	381	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GTAAAAAACTCGGCCTGGTGT	0.403000														158			74		0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53708591	53708591	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53708591G>A	uc001scr.4	-	5	652	c.489C>T	c.(487-489)acC>acT	p.T163T	AAAS_uc001scs.4_Intron	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	163					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CAAACTTGTTGGTGTGGGGGT	0.542000														19			7		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158618317	158618317	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158618317G>A	uc001fst.1	-	25	3895	c.3696C>T	c.(3694-3696)ctC>ctT	p.L1232L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1232					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGGGGTACGAGGTCCCTTT	0.498000														51			56		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847868	123847869	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123847868_123847869GG>AA	uc001pzm.1	-	0	530_531	c.530_531CC>TT	c.(529-531)acc>aTT	p.T177I		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCAGGCGGAAGGTGAGGGAGGT	0.559000														67			7		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107416969	107416969	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107416969C>T	uc003ver.2	-	14	1816	c.1605G>A	c.(1603-1605)gtG>gtA	p.V535V	SLC26A3_uc003ves.2_Silent_p.V500V	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	535	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TGAAAATTTTCACTCCTTCTG	0.358000														91			23		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204948579	204948579	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204948579C>T	uc010prc.2	+	17	2298	c.769C>T	c.(769-771)Ctc>Ttc	p.L257F	NFASC_uc001hbj.3_Missense_Mutation_p.L690F|NFASC_uc010pra.2_Missense_Mutation_p.L686F|NFASC_uc001hbi.3_Missense_Mutation_p.L686F|NFASC_uc010prb.2_Missense_Mutation_p.L701F|NFASC_uc001hbk.1_Missense_Mutation_p.L496F|NFASC_uc001hbl.2_5'Flank			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	690	Ig-like C2-type 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCAGCCGTCCTCCGGCTGTC	0.587000														150			36		0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117311310	117311310	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:117311310C>T	uc001egu.4	+	4	990	c.961C>T	c.(961-963)Cac>Tac	p.H321Y		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	321	Pro-rich.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CACACAAGTTCACCAGCAGAA	0.582000														163			62		0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99358502	99358502	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99358502C>T	uc003urv.2	-	11	1463	c.1356G>A	c.(1354-1356)atG>atA	p.M452I	CYP3A4_uc003urw.2_Missense_Mutation_p.M451I|CYP3A4_uc011kiz.2_Missense_Mutation_p.M411I	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	452					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	GAGCAAGTTTCATGTTCATGA	0.363000														147			65		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104057386	104057386	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:104057386G>T	uc003hxb.1	-	39	6524	c.6434C>A	c.(6433-6435)cCc>cAc	p.P2145H	CENPE_uc003hxc.1_Missense_Mutation_p.P2024H	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	2145	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGTAAATAGGGAAGTGAGAG	0.358000														105			47		1.06522e-23	1.07137e-23	1	1	0
RICTOR	253260	broad.mit.edu	37	5	38950815	38950815	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38950815G>A	uc003jlo.2	-	30	3157	c.3135C>T	c.(3133-3135)ttC>ttT	p.F1045F	RICTOR_uc003jlp.2_Silent_p.F1045F|RICTOR_uc010ivf.2_Silent_p.F760F	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1045	Ser-rich.				T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CCTCCAATATGAACATACCTA	0.333000														66			29		0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32332505	32332505	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:32332505G>A	uc001utt.3	+	1	276	c.205G>A	c.(205-207)Gat>Aat	p.D69N	RXFP2_uc010aba.3_Missense_Mutation_p.D69N	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	69	LDL-receptor class A.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGATGGCAAGGATGACTGTGG	0.522000														129			46		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469108	10469108	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10469108C>T	uc003wtc.3	-	3	2729	c.2500G>A	c.(2500-2502)Gcc>Acc	p.A834T		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	834					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)		GCCTCTTGGGCCGGCTGCGTC	0.721000														9			6		0	0	1	0	0
RGS1	5996	broad.mit.edu	37	1	192544995	192544995	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:192544995G>A	uc001gsi.1	+	0	139	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	RGS1_uc010pou.1_Missense_Mutation_p.E25K	NM_002922	NP_002913	Q08116	RGS1_HUMAN	Homo sapiens regulator of G-protein signaling 1 (RGS1), mRNA.	25					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TAACCCAAAGGAATTGAAAGG	0.418000														50			23		0	0	1	0	0
FCGRT	2217	broad.mit.edu	37	19	50017667	50017667	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50017667C>T	uc002pog.2	+	2	747	c.525C>T	c.(523-525)ctC>ctT	p.L175L	FCGRT_uc002poe.2_Silent_p.L175L|FCGRT_uc002pof.2_Silent_p.L80L|FCGRT_uc010yax.2_Silent_p.L175L|FCGRT_uc002poh.2_Silent_p.L35L	NM_004107	NP_004098	P55899	FCGRN_HUMAN	Homo sapiens Fc fragment of IgG, receptor, transporter, alpha (FCGRT), transcript variant 2, mRNA.	175	Alpha-2.				antigen processing and presentation|female pregnancy|immune response	MHC class I protein complex|integral to membrane	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		ACAAGGAGCTCACCTTCCTGC	0.667000														28			7		0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52826857	52826857	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52826857C>T	uc001saj.2	-	1	700	c.678G>A	c.(676-678)agG>agA	p.R226R		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	226	Coil 1B.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCTGCATGTTCCTCAGTTCAG	0.537000														77			34		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111779604	111779604	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:111779604G>A	uc001tsa.2	+	20	3560	c.3406G>A	c.(3406-3408)Ggc>Agc	p.G1136S		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1136						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ACGTCGCTATGGCCTCATCAG	0.642000														84			46		0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48823102	48823102	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48823102G>A	uc002isq.3	+	7	883	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	LUC7L3_uc010wmw.2_Missense_Mutation_p.E163K|LUC7L3_uc002isr.3_Missense_Mutation_p.E239K|LUC7L3_uc002iss.3_Missense_Mutation_p.E239K	NM_016424	NP_057508	O95232	LC7L3_HUMAN	Homo sapiens LUC7-like 3 (S. cerevisiae) (LUC7L3), transcript variant 1, mRNA.	239	Arg/Ser-rich.|Glu-rich.				RNA splicing|apoptosis|mRNA processing|response to stress	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						GAAAAGAACCGAAGAACCTGA	0.348000														49			6		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88658671	88658671	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:88658671G>A	uc001xwm.3	-	4	887	c.765C>T	c.(763-765)atC>atT	p.I255I	KCNK10_uc001xwn.3_Silent_p.I255I|KCNK10_uc001xwo.3_Silent_p.I250I	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	250					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						TGACAGCAGGGATCGTCACAA	0.502000														112			33		0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205069166	205069166	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205069166G>A	uc010prd.2	-	6	1165	c.884C>T	c.(883-885)tCt>tTt	p.S295F	RBBP5_uc010pre.2_Missense_Mutation_p.S133F|RBBP5_uc001hbu.2_Missense_Mutation_p.S260F|RBBP5_uc001hbv.2_Missense_Mutation_p.S260F	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.	260					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCCATCCCCAGAGAAACAACA	0.507000														75			25		0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60067763	60067763	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:60067763G>A	uc003jsi.4	-	3	422	c.222C>T	c.(220-222)ttC>ttT	p.F74F	ELOVL7_uc011cqo.2_Intron|ELOVL7_uc010iwk.3_Silent_p.F74F|ELOVL7_uc003jsj.4_Silent_p.F61F	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	74					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				AGAGTACTATGAAAAAATTGT	0.358000														30			14		0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61257301	61257301	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:61257301G>A	uc001nru.2	+	11	1223	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	PPP1R32_uc009ynq.2_Missense_Mutation_p.R344Q	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 32 (PPP1R32), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	364																	GGCTGGACTCGAGGTGGCATC	0.642000														34			14		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33412138	33412138	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:33412138G>A	uc021vft.1	+	5	1440	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R	LTBP1_uc002rou.3_Missense_Mutation_p.G147R|LTBP1_uc002rov.3_Missense_Mutation_p.G147R|LTBP1_uc010ymz.2_Missense_Mutation_p.G147R|LTBP1_uc010yna.2_Missense_Mutation_p.G147R	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	473					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAGCCAGCAAGGAGTCAAAGG	0.527000														55			15		0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115109849	115109849	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:115109849G>A	uc001tvt.1	-	7	2993	c.2029C>T	c.(2029-2031)Ctg>Ttg	p.L677L	TBX3_uc001tvu.1_Silent_p.L657L	NM_016569	NP_057653	O15119	TBX3_HUMAN	Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.	677	Transcription repression.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTGGCGGCCAGGGCGGCGACT	0.716000														5			4		0	0	1	0	0
CPNE1	8904	broad.mit.edu	37	20	34215285	34215285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34215285G>A	uc010zvj.2	-	13	1535	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F	CPNE1_uc002xde.3_Missense_Mutation_p.L361F|CPNE1_uc002xdf.3_Missense_Mutation_p.L385F|CPNE1_uc002xdi.3_Missense_Mutation_p.L385F|CPNE1_uc002xdj.3_Missense_Mutation_p.L385F|CPNE1_uc002xdl.3_Missense_Mutation_p.L385F|CPNE1_uc002xdm.3_Missense_Mutation_p.L385F	NM_003915	NP_690905	Q99829	CPNE1_HUMAN	Homo sapiens copine I (CPNE1), transcript variant 3, mRNA.	385	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGGCCATAGAGGCGAACTTGG	0.577000														64			25		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73474816	73474816	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:73474816C>T	uc003tzw.3	+	24	1841	c.1750C>T	c.(1750-1752)Cct>Tct	p.P584S	ELN_uc003tzn.3_Missense_Mutation_p.P578S|ELN_uc003tzy.3_Missense_Mutation_p.P554S|ELN_uc003tzz.3_Missense_Mutation_p.P497S|ELN_uc003tzo.3_Missense_Mutation_p.P530S|ELN_uc003tzp.3_Missense_Mutation_p.P489S|ELN_uc003tzq.3_Missense_Mutation_p.P442S|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.P559S|ELN_uc003tzt.3_Missense_Mutation_p.P583S|ELN_uc003tzu.3_Missense_Mutation_p.P564S|ELN_uc003tzv.3_Missense_Mutation_p.P549S|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.P568S|ELN_uc011kff.2_Missense_Mutation_p.P578S	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	607	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGCTGGTGTTCCTGGCTTCGG	0.627000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							52			27		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98355350	98355350	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98355350G>A	uc001kmq.3	-	16	2530	c.2402C>T	c.(2401-2403)cCa>cTa	p.P801L	PIK3AP1_uc001kmo.3_Missense_Mutation_p.P400L|PIK3AP1_uc001kmp.3_Missense_Mutation_p.P623L	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	801	Pro-rich.					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)		TCCTCTGGGTGGAACAGGTGG	0.428000														42			18		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705252	30705252	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:30705252C>T	uc003xil.3	-	0	1282	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	428										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGTTCATTTTCATTTTTCCTA	0.338000														151			41		0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170145770	170145770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:170145770G>A	uc003mas.3	+	2	632	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	KCNIP1_uc003map.3_Missense_Mutation_p.E33K|KCNIP1_uc003mat.3_Missense_Mutation_p.E24K|KCNIP1_uc010jjp.3_5'UTR|KCNIP1_uc010jjq.3_Missense_Mutation_p.E24K	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	35					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATAAGATTGAAGATGAGCT	0.517000														22			17		0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22675776	22675776	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:22675776C>T	uc001iri.3	+	4	733	c.566C>T	c.(565-567)tCg>tTg	p.S189L	SPAG6_uc010qct.2_Missense_Mutation_p.S164L|SPAG6_uc009xkh.3_Missense_Mutation_p.S167L|SPAG6_uc001irj.3_Missense_Mutation_p.S189L|SPAG6_uc021poe.1_5'UTR	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	189					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						ATTGCTGCTTCGGCCCTCAGT	0.483000														91			17		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47401236	47401236	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47401236C>T	uc001cqp.4	-	4	645	c.594G>A	c.(592-594)atG>atA	p.M198I	CYP4A11_uc001cqq.2_Missense_Mutation_p.M198I|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	198					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGGCACACTTCATGATGGTGT	0.572000														89			28		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074624	106074624	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106074624G>A	uc001kyf.3	-	2	1639	c.1186C>T	c.(1186-1188)Cta>Tta	p.L396L	ITPRIP_uc001kye.3_Silent_p.L396L|ITPRIP_uc001kyg.3_Silent_p.L396L|ITPRIP_uc021pxv.1_Silent_p.L396L	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	396						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						AGTGCCTTTAGTGTCGTCCTG	0.642000														63			16		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897018	36897018	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36897018G>A	uc003cgj.3	-	11	4311	c.4063C>T	c.(4063-4065)Cag>Tag	p.Q1355*		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1355					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTGATTTGCTGATACAGACTG	0.473000														122			36		0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69107480	69107480	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69107480C>T	uc003hdw.4	-	1	187	c.51G>A	c.(49-51)acG>acA	p.T17T		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	17					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.T17T(4)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AAATAAAGATCGTAGTCCATA	0.388000														49			36		0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9027799	9027799	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:9027799C>T	uc001apm.3	+	5	677	c.653C>T	c.(652-654)tCa>tTa	p.S218L	CA6_uc009vmn.3_Missense_Mutation_p.S158L	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	218					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		TACCATGGCTCACTCACCACG	0.527000														70			32		0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31541429	31541429	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31541429C>T	uc011dnu.1	+	3	790	c.577C>T	c.(577-579)Ctc>Ttc	p.L193F	LTA_uc003nue.1_Missense_Mutation_p.L193F|LTA_uc003nuf.3_Intron|LTA_uc003nuh.3_Intron|LTA_uc003nug.3_Missense_Mutation_p.P102L|LTA_uc010jsr.3_Non-coding_Transcript|TNF_uc003nui.3_5'Flank|TNF_uc003nuj.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	193					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CCACCTAGTCCTCAGCCCTAG	0.522000														186			79		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109318260	109318260	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:109318260C>T	uc010agk.2	+	1	677	c.55C>T	c.(55-57)Cga>Tga	p.R19*	MYO16_uc001vqt.1_5'UTR	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	0					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TAACGTTTTTCGATCCCATGA	0.493000														36			5		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107417675	107417675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:107417675C>T	uc004enw.4	-	30	3239	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K	COL4A6_uc004env.4_Missense_Mutation_p.E1045K|COL4A6_uc011msn.2_Missense_Mutation_p.E1045K|COL4A6_uc010npk.3_Missense_Mutation_p.E1045K	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1046	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						CTTACACTTTCTCCTGGCATT	0.552000									Alport syndrome with Diffuse Leiomyomatosis					16			18		0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68686993	68686993	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:68686993G>A	uc001jmz.1	+	1	869	c.319G>A	c.(319-321)Gga>Aga	p.G107R	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Missense_Mutation_p.G107R	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	107						integral to membrane		p.G107V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGCTTTTAATGGAATACGCAG	0.358000														153			37		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452434	179452434	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179452434C>T	uc021vsy.1	-	254	56123	c.55898G>A	c.(55897-55899)cGa>cAa	p.R18633Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R12328Q|TTN_uc021vta.1_Missense_Mutation_p.R12261Q|TTN_uc021vtb.1_Missense_Mutation_p.R12136Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19560	Fibronectin type-III 35.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T18633I(1)		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)			AGGGGCTGGTCGTCCTCTCAC	0.478000														33			15		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140953566	140953566	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140953566G>A	uc004cog.3	+	29	4654	c.4509G>A	c.(4507-4509)ctG>ctA	p.L1503L	CACNA1B_uc022bqn.1_Silent_p.L1503L|CACNA1B_uc011mfd.2_Silent_p.L1104L|CACNA1B_uc004coi.3_Silent_p.L717L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1503					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGCTGATGCTGAAATGCCTGA	0.542000														18			6		0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169487532	169487532	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169487532G>A	uc002uec.1	+	3	569	c.445G>A	c.(445-447)Gga>Aga	p.G149R	CERS6_uc002ueb.1_Missense_Mutation_p.G149R	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	149	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.G149*(1)									ATTTACCTACGGAGTCAGATT	0.299000														92			21		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467057	56467057	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56467057C>T	uc002qmh.3	+	2	1704	c.1633C>T	c.(1633-1635)Ccc>Tcc	p.P545S	NLRP8_uc010etg.3_Missense_Mutation_p.P545S	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	545						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GATAGCGAGTCCCAGAGGAAG	0.458000														85			43		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68701305	68701305	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:68701305C>T	uc001ook.1	+	9	1563	c.1461C>T	c.(1459-1461)ccC>ccT	p.P487P	IGHMBP2_uc001ool.1_Silent_p.P111P|IGHMBP2_uc001oom.1_Silent_p.P65P	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	487					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGGGTGTGCCCCTGCTCTTGG	0.647000														12			6		0	0	1	0	0
SRP72	6731	broad.mit.edu	37	4	57350913	57350913	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:57350913C>T	uc003hbv.3	+	9	1009	c.969C>T	c.(967-969)tgC>tgT	p.C323C	SRP72_uc010ihe.3_Silent_p.C262C	NM_006947	NP_008878	O76094	SRP72_HUMAN	Homo sapiens signal recognition particle 72kDa (SRP72), mRNA.	323					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CTGAACAATGCCGCAAAATAT	0.413000														144			33		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034594	52034594	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52034594C>T	uc002pwy.3	-	1	455	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SIGLEC6_uc002pwz.3_Missense_Mutation_p.E83K|SIGLEC6_uc010ydb.2_Missense_Mutation_p.E47K|SIGLEC6_uc010ydc.2_Missense_Mutation_p.E83K|SIGLEC6_uc002pxa.3_Missense_Mutation_p.E83K|SIGLEC6_uc010eoz.2_Missense_Mutation_p.E83K|SIGLEC6_uc010epa.2_Missense_Mutation_p.E72K|SIGLEC6_uc010epb.2_Missense_Mutation_p.E36K	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	83	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGCACTTCTTCGTCTGGGTCG	0.582000														92			31		0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46307639	46307639	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46307639C>T	uc003cpl.2	+	2	2120	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	CCR3_uc003cpg.2_Silent_p.F330F|CCR3_uc003cpk.2_Silent_p.F351F|CCR3_uc003cpi.2_Silent_p.F330F|CCR3_uc010hjb.2_Silent_p.F348F|CCR3_uc003cpj.2_Silent_p.F330F|CCR3_uc021wwz.1_Silent_p.F330F	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	330					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		ACATCCCATTCCTTCCTAGTG	0.512000														60			7		0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6924073	6924073	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6924073G>A	uc001qqv.2	+	4	780	c.522G>A	c.(520-522)ctG>ctA	p.L174L	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Silent_p.L119L|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	174	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				TGTCTCAGCTGGAGCTCCAGG	0.547000														50			21		0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104337524	104337524	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:104337524G>A	uc003ylh.3	+	3	1480	c.1190G>A	c.(1189-1191)cGa>cAa	p.R397Q	FZD6_uc011lhn.2_Missense_Mutation_p.R365Q|FZD6_uc003ylj.3_Missense_Mutation_p.R397Q|FZD6_uc011lho.2_Missense_Mutation_p.R92Q|FZD6_uc011lhp.2_Missense_Mutation_p.R342Q	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	397					G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R397Q(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AATCATGTTCGACAAGTCATA	0.413000														208			77		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103311564	103311564	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103311564G>A	uc002tca.3	+	6	1720	c.1578G>A	c.(1576-1578)tgG>tgA	p.W526*		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	526						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACAACTTTTGGAGAGACAAGT	0.368000														156			39		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348695	140348695	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140348695C>T	uc003lii.3	+	0	2949	c.2344C>T	c.(2344-2346)Cga>Tga	p.R782*	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Nonsense_Mutation_p.R782*	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	782					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)			CATTGAAGTTCGAGGGAATGG	0.507000														58			21		0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75514208	75514208	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75514208G>A	uc001xrd.1	-	1	2367	c.2151C>T	c.(2149-2151)ttC>ttT	p.F717F	MLH3_uc001xre.1_Silent_p.F717F|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	717					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TATACCAGGGGAAAGAGGGGG	0.378000								Mismatch excision repair (MMR)						99			39		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415743	57415743	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:57415743C>T	uc021wfl.1	+	0	949	c.582C>T	c.(580-582)ctC>ctT	p.L194L	GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Silent_p.L194L|GNAS_uc010gjq.3_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.	319					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGGAGGAGCTCAAGCCCGAGG	0.667000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				17			5		0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649221	47649221	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:47649221C>T	uc010jzj.1	+	5	927	c.926C>T	c.(925-927)tCt>tTt	p.S309F	GPR111_uc003oyy.3_Missense_Mutation_p.S241F	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	309					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTCACTTTTTCTATGAGAATT	0.393000														155			9		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21132126	21132126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21132126C>T	uc010vbe.2	-	10	1634	c.1634G>A	c.(1633-1635)cGg>cAg	p.R545Q	DNAH3_uc002die.2_Intron	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	545	Stem (By similarity).		R -> W (in dbSNP:rs16970910).		ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CACACATTGCCGATCAGCAGC	0.493000														27			11		0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52789509	52789509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:52789509C>T	uc002xwv.2	-	1	786	c.388G>A	c.(388-390)Gag>Aag	p.E130K	CYP24A1_uc002xwu.1_5'Flank|CYP24A1_uc002xww.2_Missense_Mutation_p.E130K	NM_000782	NP_000773	Q07973	CP24A_HUMAN	Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	130					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGTTTGATCTCCAGCCGCTGC	0.622000														69			39		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113286201	113286201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113286201C>T	uc001pnz.3	-	3	986	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	DRD2_uc010rwv.2_Missense_Mutation_p.R221Q|DRD2_uc001poa.4_Missense_Mutation_p.R222Q|DRD2_uc001pob.4_Missense_Mutation_p.R222Q|DRD2_uc009yyr.1_Missense_Mutation_p.R222Q	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	222	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GGTGTTGACTCGCTTGCGGCG	0.567000														138			44		0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35449721	35449721	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35449721G>A	uc002nxh.1	-	3	1425	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTCGGCTGAAGAATTTCCCAC	0.507000														32			15		0	0	1	0	0
PHF2P1	266695	broad.mit.edu	37	13	19624112	19624112	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19624112G>A	uc001umb.1	-	8		c.3371C>T								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		AGGGGATGAAGAGGGTCTGGC	0.577000														57			23		0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71469630	71469630	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71469630G>A	uc003hfl.3	+	11	891	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	264					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GAGTTCAGAAGAAGTGGCAGT	0.423000														49			15		0	0	1	0	0
TAC3	6866	broad.mit.edu	37	12	57409509	57409509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57409509C>T	uc001smp.3	-	1	252	c.73G>A	c.(73-75)Gag>Aag	p.E25K	TAC3_uc001smt.3_Non-coding_Transcript|TAC3_uc001smu.3_Non-coding_Transcript|TAC3_uc001smv.3_Non-coding_Transcript|TAC3_uc010sqy.2_Non-coding_Transcript|TAC3_uc001smo.3_Missense_Mutation_p.E25K|TAC3_uc001smq.3_Non-coding_Transcript|TAC3_uc001smr.3_Non-coding_Transcript|TAC3_uc001sms.3_Non-coding_Transcript	NM_013251	NP_037383	Q9UHF0	TKNK_HUMAN	Homo sapiens tachykinin 3 (TAC3), transcript variant 1, mRNA.	25					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TCCTGTGGCTCCTTACAGACA	0.597000														60			15		0	0	1	0	0
TPM3	7170	broad.mit.edu	37	1	154163758	154163758	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154163758C>T	uc001fec.1	-	1	262	c.147G>A	c.(145-147)aaG>aaA	p.K49K		NM_152263	NP_689476	P06753	TPM3_HUMAN	Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.	48					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CTTTCAGCTTCTTCTGCATGG	0.512000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""									76			40		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10104320	10104320	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10104320C>T	uc002mmq.1	-	17	1756	c.1670G>A	c.(1669-1671)gGg>gAg	p.G557E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	557	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)			ACCAGGCAGCCCAGGGAGGCC	0.592000														58			18		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104061975	104061975	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:104061975G>A	uc003hxb.1	-	35	5840	c.5750C>T	c.(5749-5751)gCt>gTt	p.A1917V	CENPE_uc003hxc.1_Missense_Mutation_p.A1892V|CENPE_uc003hxd.1_5'Flank	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1917					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACTCACTCTAGCTTTGGTTTC	0.393000														40			24		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17496474	17496474	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17496474G>A	uc001mnc.3	-	1	375	c.249C>T	c.(247-249)ttC>ttT	p.F83F	ABCC8_uc010rcy.1_Silent_p.F83F|ABCC8_uc021qej.1_Intron	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	83					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	ACACCAGGACGAAGAGCAGCA	0.547000														50			19		0	0	1	0	0
FAM22D	728130	broad.mit.edu	37	10	89127097	89127097	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:89127097C>T	uc009xte.1	+	6	2188	c.1642C>T	c.(1642-1644)Cct>Tct	p.P548S		NM_001009610	NP_001009610	Q5VT03	FA22D_HUMAN	Homo sapiens family with sequence similarity 22, member D (FAM22D), mRNA.	783										large_intestine(2)|lung(2)	4						GTAGGGAGCCCCTTCAGATGC	0.632000														26			11		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873661	36873661	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36873661C>T	uc003cgj.3	-	20	7529	c.7281G>A	c.(7279-7281)tgG>tgA	p.W2427*		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2427					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGACATTCTTCCAGAGGCGGG	0.522000														100			36		0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940393	82940393	+	Silent	SNP	G	A	A	rs113269048	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:82940393G>A	uc003kim.3	-	2	635	c.564C>T	c.(562-564)atC>atT	p.I188I	HAPLN1_uc003kin.3_Silent_p.I188I	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	188	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CGAAGGAGGCGATCACAGCAT	0.582000														45			16		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108348406	108348406	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:108348406C>T	uc003ymn.3	-	2	1015	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	ANGPT1_uc011lhv.2_5'UTR|ANGPT1_uc003ymo.3_Missense_Mutation_p.E183K	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	183					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTCAAGATTTCATTTGTCTGT	0.363000														33			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179498290	179498290	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179498290C>T	uc021vsy.1	-	180	35317	c.35092G>A	c.(35092-35094)Ggt>Agt	p.G11698S	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G5393S|TTN_uc021vta.1_Missense_Mutation_p.G5326S|TTN_uc021vtb.1_Missense_Mutation_p.G5201S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12625	Glu-rich.|Pro-rich.						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)			ATCTCTTCACCATCTTTGAAC	0.408000														45			20		0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104048451	104048451	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104048451G>A	uc004bbb.3	+	3	717	c.318G>A	c.(316-318)gaG>gaA	p.E106E	LPPR1_uc011lvi.2_Silent_p.E82E|LPPR1_uc004bbc.3_Silent_p.E106E|LPPR1_uc010mtc.3_Silent_p.E90E	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	106						integral to membrane	catalytic activity										TTGCTCAGGAGAAAACAATTC	0.388000														101			14		0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29821054	29821054	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:29821054C>T	uc001iut.1	-	8	2639	c.1886G>A	c.(1885-1887)gGt>gAt	p.G629D	SVIL_uc001iuu.1_Intron	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	629					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCGTTCCACACCGGTGGGCAA	0.488000														79			33		0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10261405	10261405	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10261405C>T	uc003bve.1	+	7	1021	c.945C>T	c.(943-945)atC>atT	p.I315I		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	315	Protein kinase.				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|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GTGTCAGCATCTGCTCAGGGC	0.567000														30			17		0	0	1	0	0
ZNF696	79943	broad.mit.edu	37	8	144378535	144378535	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144378535C>T	uc003yxy.4	+	2	1099	c.690C>T	c.(688-690)acC>acT	p.T230T		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	Homo sapiens zinc finger protein 696 (ZNF696), mRNA.	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R229P(1)		lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			ACCGCCGCACCCACACCGGGG	0.726000														17			3		0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48501206	48501206	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48501206C>T	uc003ctf.1	+	6	978	c.946C>T	c.(946-948)Ctc>Ttc	p.L316F	ATRIP_uc011bbj.1_Missense_Mutation_p.L189F|ATRIP_uc003ctg.1_Missense_Mutation_p.L316F|TREX1_uc010hjy.3_5'UTR	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA.	316					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GATAAACCTGCTCCTGAAGCA	0.507000								Other conserved DNA damage response genes						210			49		0	0	1	0	0
LOC399753	399753	broad.mit.edu	37	10	49239436	49239436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:49239436C>T	uc001jgd.3	-	0	223	c.64G>A	c.(64-66)Gac>Aac	p.D22N						Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		ATGTGGAGGTCCTCACCAACT	0.577000														73			13		0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80223044	80223044	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:80223044G>A	uc003piy.3	-	3	1217	c.605C>T	c.(604-606)tCc>tTc	p.S202F	LCA5_uc003pix.3_Missense_Mutation_p.S202F|LCA5_uc011dyr.2_Missense_Mutation_p.S202F	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	202					protein transport	cilium axoneme|microtubule basal body	protein binding	p.F201C(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTTCTGTAAGGAAAATTTTGT	0.378000														44			42		0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806871	97806871	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:97806871C>T	uc011bgs.2	+	0	855	c.855C>T	c.(853-855)ccC>ccT	p.P285P		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I284F(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TTATAATTCCCCTGCTAAACC	0.373000														48			16		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124756615	124756615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124756615C>T	uc001qbg.3	-	15	2679	c.2539G>A	c.(2539-2541)Gga>Aga	p.G847R	ROBO4_uc010sas.2_Missense_Mutation_p.G702R|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.3_Missense_Mutation_p.G405R	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	847					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CCCACCCCTCCTCCAGTCCTG	0.662000														42			16		0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62658387	62658388	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62658387_62658388CC>TT	uc002yho.3	+	15	2249_2250	c.2081_2082CC>TT	c.(2080-2082)gcc>gTT	p.A694V	PRPF6_uc002yhp.3_Missense_Mutation_p.A654V	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	694					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ATCAGGGCAGCCCAAGATCTGT	0.574000														50			27		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38484966	38484966	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38484966C>T	uc010ive.1	-	17	2834	c.2502G>A	c.(2500-2502)gtG>gtA	p.V834V	LIFR_uc003jli.2_Silent_p.V834V	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	834					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TAATTAATCCCACAGCTGAAA	0.368000			T	PLAG1	salivary adenoma									35			7		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170952658	170952658	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:170952658G>A	uc010plz.2	+	8	866	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	C1orf129_uc001ghg.3_Missense_Mutation_p.E238K|C1orf129_uc009wvy.3_Missense_Mutation_p.E45K	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	238							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCAACAAGACGAAAGTAAAAT	0.358000														39			7		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104164482	104164482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104164482C>T	uc001kvg.1	-	14	3085	c.2558G>A	c.(2557-2559)aGc>aAc	p.S853N	PSD_uc001kvh.1_Missense_Mutation_p.S474N|PSD_uc009xxd.1_Missense_Mutation_p.S853N	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	853	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CTGCTCCAGGCTCCTGGGGAG	0.557000														126			33		0	0	1	0	0
GOT2	2806	broad.mit.edu	37	16	58750625	58750625	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:58750625G>A	uc002eof.1	-	6	909	c.795C>T	c.(793-795)atC>atT	p.I265I	GOT2_uc010vim.1_Silent_p.I222I	NM_002080	NP_002071	P00505	AATM_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA.	265					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGCCCTGTTCGATGAAGTGGC	0.488000														39			11		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47264840	47264840	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47264840C>T	uc001cqn.4	+	0	171	c.87C>T	c.(85-87)ctC>ctT	p.L29L	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Silent_p.L29L|CYP4B1_uc009vym.3_Silent_p.L29L|CYP4B1_uc010omk.2_5'UTR	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	29					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TTCTCAAGCTCATCCACCTGC	0.577000														18			8		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26802488	26802488	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:26802488G>A	uc001iss.3	+	7	1033	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	APBB1IP_uc009xks.1_Missense_Mutation_p.E238K	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	238	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TGAAGACCATGAAAATGTTGT	0.338000														58			25		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45706897	45706897	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45706897C>T	uc002zei.2	+	2	471	c.344C>T	c.(343-345)cCc>cTc	p.P115L		NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	115					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGGAGGAAGCCCCCGGCCGTC	0.677000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					63			23		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984599	85984599	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:85984599G>A	uc010qmc.2	-	1	390	c.382C>T	c.(382-384)Ctc>Ttc	p.L128F	LRIT2_uc001kcy.3_Missense_Mutation_p.L128F	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	128						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						ACCCTCAGGAGAGGGGTGGCA	0.557000														124			43		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657918	143657918	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143657918G>A	uc003wds.1	+	0	899	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CACCAATGCTGAACCCCATGA	0.453000														103			21		0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178769882	178769882	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:178769882G>A	uc002ulq.3	-	2	1422	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	PDE11A_uc002ulr.3_Silent_p.I118I|PDE11A_uc002uls.1_Silent_p.I10I|PDE11A_uc002ult.1_Silent_p.I118I|PDE11A_uc002ulu.1_Silent_p.I10I	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	368	GAF 1.				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)			TAGATATGGCGATTCCACAAA	0.363000									Primary Pigmented Nodular Adrenocortical Disease, Familial					40			12		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22211865	22211865	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22211865G>A	uc009vqd.3	-	9	1198	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	HSPG2_uc001bfj.3_Silent_p.F386F	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	386	LDL-receptor class A 4.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGTCACAGTGGAAGCTGGCTG	0.627000														49			11		0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112648064	112648064	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:112648064G>A	uc003dzj.1	-	3	726	c.493C>T	c.(493-495)Cat>Tat	p.H165Y	CD200R1_uc003dzk.1_Missense_Mutation_p.H142Y|CD200R1_uc011bhx.1_Missense_Mutation_p.H120Y|CD200R1_uc003dzl.1_Missense_Mutation_p.H165Y|CD200R1_uc003dzm.1_Missense_Mutation_p.H142Y	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.	142	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.F164F(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TATCCACGATGGAAATTCCCA	0.438000														98			31		0	0	1	0	0
SYVN1	84447	broad.mit.edu	37	11	64899785	64899785	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64899785G>A	uc001odb.3	-	5	559	c.465C>T	c.(463-465)ttC>ttT	p.F155F	SYVN1_uc001odc.3_Silent_p.F155F|SYVN1_uc009yqc.3_Intron	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	Homo sapiens synovial apoptosis inhibitor 1, synoviolin (SYVN1), transcript variant 2, mRNA.	155					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	p.F155F(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CGTGGCTGACGAAGAGGAAGT	0.592000														70			30		0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80634670	80634670	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:80634670C>T	uc003pja.4	-	3	688	c.369_splice	c.e3+1	p.R123_splice	ELOVL4_uc011dyt.2_Intron	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	123					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TGTACTTACCCTGACTTCATG	0.303000														34			18		0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57666645	57666645	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57666645C>T	uc002qoa.1	-	4	579	c.534G>A	c.(532-534)gaG>gaA	p.E178E		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	178						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		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;0.0123)		CTTGCAGTCCCTCAGGAATCT	0.498000														81			5		0	0	1	0	0
GPX3	2878	broad.mit.edu	37	5	150404937	150404937	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:150404937G>A	uc021yga.1	+	1	341	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_002084	NP_002075	P22352	GPX3_HUMAN	Homo sapiens glutathione peroxidase 3 (plasma) (GPX3), mRNA.	42					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	CACCATTTACGAGTACGGAGC	0.512000														74			26		0	0	1	0	0
VWC2	375567	broad.mit.edu	37	7	49951682	49951682	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:49951682G>A	uc003tot.1	+	3	1435	c.879G>A	c.(877-879)aaG>aaA	p.K293K		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	Homo sapiens von Willebrand factor C domain containing 2 (VWC2), mRNA.	293					negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GAGAAGTGAAGACTGACGAGT	0.453000														65			18		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3731987	3731987	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3731987G>A	uc010xhv.2	+	4	725	c.725G>A	c.(724-726)gGc>gAc	p.G242D	TJP3_uc010xhs.2_Missense_Mutation_p.G223D|TJP3_uc010xht.2_Missense_Mutation_p.G187D|TJP3_uc010xhu.2_Missense_Mutation_p.G232D|TJP3_uc010xhw.2_Missense_Mutation_p.G242D	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	223	PDZ 2.					tight junction	protein binding	p.S241S(1)		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)		ACAGATTCGGGCCTGGCTGCC	0.597000														57			16		0	0	1	0	0
CHRM1	1128	broad.mit.edu	37	11	62677545	62677545	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62677545G>A	uc021qko.1	-	0	1028	c.1028C>T	c.(1027-1029)cCc>cTc	p.P343L	CHRM1_uc001nwi.3_Missense_Mutation_p.P343L	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	343					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	CTTTCCACGGGGCTTCTGGCC	0.627000														41			14		0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96106999	96106999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:96106999C>T	uc001tei.3	-	3	1431	c.982G>A	c.(982-984)Gag>Aag	p.E328K	NTN4_uc009ztf.3_Missense_Mutation_p.E328K|NTN4_uc009ztg.3_Missense_Mutation_p.E291K	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	328	Laminin EGF-like 1.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTTCTGCACTCGTTGGGAGCC	0.502000														65			20		0	0	1	0	0
DOC2A	8448	broad.mit.edu	37	16	30020409	30020409	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30020409C>T	uc002dvn.3	-	4	626	c.435G>A	c.(433-435)acG>acA	p.T145T	BOLA2_uc010bzb.1_Intron|DOC2A_uc010vef.2_Non-coding_Transcript|DOC2A_uc002dvo.3_Silent_p.T145T|DOC2A_uc002dvp.3_Silent_p.T145T|DOC2A_uc002dvq.3_Silent_p.T145T	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	Homo sapiens double C2-like domains, alpha (DOC2A), mRNA.	145	C2 1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TCTGAGTCTTCGTTTTTAGCT	0.572000														44			9		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158609381	158609381	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158609381C>T	uc001fst.1	-	34	5170	c.4971G>A	c.(4969-4971)ttG>ttA	p.L1657L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1657					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTCTCGAGCCAACATCTCTC	0.483000														120			20		0	0	1	0	0
MTRF1	9617	broad.mit.edu	37	13	41814411	41814411	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:41814411G>A	uc010tff.2	-	6	1114	c.895C>T	c.(895-897)Cct>Tct	p.P299S	MTRF1_uc001uxx.3_Missense_Mutation_p.P286S|MTRF1_uc001uxy.3_Missense_Mutation_p.P286S|MTRF1_uc001uxz.3_Missense_Mutation_p.P122S|MTRF1_uc001uyc.1_Missense_Mutation_p.P286S			O75570	RF1M_HUMAN	Homo sapiens mitochondrial translational release factor 1 (MTRF1), nuclear gene encoding mitochondrial protein, mRNA.	286					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TCTGGCTGAGGAAGGACAATA	0.532000														110			35		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94888377	94888377	+	Missense_Mutation	SNP	G	A	A	rs139457907		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:94888377G>A	uc002btj.3	+	6	1054	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	MCTP2_uc010urg.1_Missense_Mutation_p.R330Q|MCTP2_uc002bti.2_Missense_Mutation_p.R330Q|MCTP2_uc010boj.3_Missense_Mutation_p.R59Q|MCTP2_uc010bok.3_Missense_Mutation_p.R330Q	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	330					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AATCGGAAGCGATTAAGTGCC	0.318000														63			6		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314000	54314000	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54314000C>T	uc002qcj.4	-	2	1133	c.913G>A	c.(913-915)Gat>Aat	p.D305N	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.D305N|NLRP12_uc002qci.4_Missense_Mutation_p.D305N|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.D305N	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	305	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCTGAGGATCGTGGAAAGAA	0.582000														66			6		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20129252	20129252	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:20129252C>T	uc010rdm.2	+	37	7413	c.7052C>T	c.(7051-7053)tCg>tTg	p.S2351L	NAV2_uc001mpp.3_Missense_Mutation_p.S2231L|NAV2_uc001mpr.4_Missense_Mutation_p.S2295L|NAV2_uc021qew.1_Missense_Mutation_p.S2298L|NAV2_uc009yhx.3_Missense_Mutation_p.S1359L|NAV2_uc009yhz.3_Missense_Mutation_p.S940L|NAV2_uc001mpu.3_Missense_Mutation_p.S733L|NAV2_uc001mpv.3_Missense_Mutation_p.S57L	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	2354						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTGGACGGCTCGAGAGTGTGG	0.547000														318			134		0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27321384	27321384	+	Silent	SNP	G	A	A	rs148009259		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:27321384G>A	uc010lur.3	-	5	1185	c.576C>T	c.(574-576)ttC>ttT	p.F192F	CHRNA2_uc011lal.2_Silent_p.F177F|CHRNA2_uc010lus.3_Intron	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	192						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	TCTGCTGGTCGAAGGGGAAGA	0.567000														92			47		0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958579	78958579	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:78958579C>T	uc001din.3	+	1	417	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	PTGFR_uc001dim.3_Missense_Mutation_p.L51F	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	51					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CATCGCCATTCTCATGAAGGC	0.443000														108			58		0	0	1	0	0
RLN1	6013	broad.mit.edu	37	9	5335409	5335409	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:5335409G>A	uc003zjb.1	-	1	527	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C		NM_006911	NP_008842	P04808	REL1_HUMAN	Homo sapiens relaxin 1 (RLN1), mRNA.	134					female pregnancy|signal transduction	extracellular region	hormone activity			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		TGCCTATTGCGAATAAGTTTC	0.408000														88			41		0	0	1	0	0
C9orf9	11092	broad.mit.edu	37	9	135759459	135759460	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135759459_135759460CC>GT	uc004cbz.1	+	1	274_275	c.125_126CC>GT	c.(124-126)ccc>cGT	p.P42R	C9orf9_uc004cbx.1_Missense_Mutation_p.P42R|C9orf9_uc004cby.1_Missense_Mutation_p.P42R	NM_018956	NP_061829	Q96E40	CI009_HUMAN	Homo sapiens chromosome 9 open reading frame 9 (C9orf9), mRNA.	42								p.R41W(1)|p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		AAGATCCGGCCCATCTCCAGCA	0.634000														53			7		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61557763	61557763	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61557763G>A	uc002jau.2	+	4	755	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	ACE_uc010wpi.2_Missense_Mutation_p.E241K|ACE_uc010ddu.2_Missense_Mutation_p.E58K	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	241	Peptidase M2 1.				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)	GGACGATCTGGAACACCTCTA	0.612000														75			28		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31536324	31536324	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31536324C>T	uc003aka.3	-	0	146	c.17G>A	c.(16-18)gGg>gAg	p.G6E		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	6					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCCAAACAGCCCTGCCTGAAC	0.677000														68			28		0	0	1	0	0
RIBC2	26150	broad.mit.edu	37	22	45813553	45813553	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:45813553C>T	uc011aqs.2	+	3	474	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA.	22										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TAGGAAAAATCTCTGTAGGGC	0.433000														60			18		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149882491	149882491	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:149882491G>A	uc001etg.3	-	3	1333	c.842C>T	c.(841-843)tCc>tTc	p.S281F	SV2A_uc001eth.2_Missense_Mutation_p.S281F	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	281					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.S281S(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CAGAAACTCGGAGAAATAGGA	0.527000														58			7		0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820223	55820223	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55820223G>A	uc010spm.2	+	0	186	c.186G>A	c.(184-186)agG>agA	p.R62R		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCTTCCTCAGGAATTTCTCCT	0.393000														138			56		0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26527408	26527408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26527408G>A	uc010oez.2	+	7	1075	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	CATSPER4_uc010oey.1_Missense_Mutation_p.E181K|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	359					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCCAGGAACCCCTTGC	0.577000														70			19		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7607462	7607462	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7607462C>T	uc010xjq.2	+	12	1535	c.1295C>T	c.(1294-1296)cCc>cTc	p.P432L	PNPLA6_uc002mgq.2_Missense_Mutation_p.P384L|PNPLA6_uc010xjp.2_Missense_Mutation_p.P384L|PNPLA6_uc002mgr.2_Missense_Mutation_p.P384L|PNPLA6_uc002mgs.3_Missense_Mutation_p.P423L	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	423					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CAGGGTGGCCCCCGCTCCGAC	0.607000														38			9		0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92346621	92346621	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:92346621G>A	uc003yez.3	+	5	980	c.741G>A	c.(739-741)ctG>ctA	p.L247L	SLC26A7_uc003yex.3_Silent_p.L247L|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Silent_p.L247L	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	247						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.E246E(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTAAAGAGCTGAATGAACAGT	0.338000														54			25		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211639	38211639	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:38211639C>T	uc010abx.3	-	10	2585	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	TRPC4_uc010abv.3_Missense_Mutation_p.E359K|TRPC4_uc001uwt.3_Missense_Mutation_p.E779K|TRPC4_uc001uws.3_Missense_Mutation_p.E779K|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Missense_Mutation_p.E606K|TRPC4_uc010aby.3_Missense_Mutation_p.E714K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	779	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCACTCTTTTCATCTGAGTCT	0.423000														100			31		0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29782300	29782300	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:29782300C>T	uc001iut.1	-	20	4615	c.3862G>A	c.(3862-3864)Gtg>Atg	p.V1288M	SVIL_uc010qdw.1_Missense_Mutation_p.V202M|SVIL_uc001iuu.1_Missense_Mutation_p.V862M|SVIL_uc009xlc.2_Missense_Mutation_p.V80M	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1288					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.T1287T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACAGTGAGCACCGTTTCGTGC	0.398000														32			16		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156816441	156816441	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156816441C>T	uc010pht.2	-	7	1979	c.1680G>A	c.(1678-1680)gtG>gtA	p.V560V	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	560	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGCTAGGGTCACCCCTGGCT	0.612000														62			8		0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19564139	19564139	+	Silent	SNP	G	A	A	rs148651015	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:19564139G>A	uc004czm.3	-	14	1840	c.1524C>T	c.(1522-1524)gaC>gaT	p.D508D	SH3KBP1_uc011mje.2_Silent_p.D247D|SH3KBP1_uc011mjf.2_Silent_p.D270D|SH3KBP1_uc004czl.3_Silent_p.D471D|SH3KBP1_uc010nfm.3_Intron	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	508					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GACTTGGGGAGTCGAAGATAT	0.433000														16			19		0	0	1	0	0
HTRA3	94031	broad.mit.edu	37	4	8305930	8305930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:8305930G>A	uc003gla.3	+	7	1327	c.1120G>A	c.(1120-1122)Gcc>Acc	p.A374T		NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	374	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TGAGCTGAAGGCCAGCAACCC	0.587000														35			12		0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55762066	55762066	+	Silent	SNP	G	A	A	rs139328258		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55762066G>A	uc010riv.2	-	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCAATAGGACGAACTCAGTCA	0.338000														84			27		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13792151	13792151	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13792151G>A	uc003jfd.2	-	49	8442	c.8400C>T	c.(8398-8400)gtC>gtT	p.V2800V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2800	AAA 3 (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)					TTCCCTGCCAGACCCGAGAAA	0.403000									Kartagener syndrome					41			23		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169787178	169787178	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169787178C>G	uc002ueo.1	-	24	3534	c.3408G>C	c.(3406-3408)aaG>aaC	p.K1136N	ABCB11_uc010zda.1_Missense_Mutation_p.K578N|ABCB11_uc010zdb.1_Missense_Mutation_p.K612N	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1136	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GGCTTACCACCTTCCCTTGAT	0.463000														25			7		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61847951	61847951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61847951G>A	uc001jky.3	-	28	3832	c.3494C>T	c.(3493-3495)tCt>tTt	p.S1165F	ANK3_uc001jkw.3_Missense_Mutation_p.S299F|ANK3_uc009xpa.3_Missense_Mutation_p.S299F|ANK3_uc001jkx.3_Missense_Mutation_p.S343F|ANK3_uc010qih.2_Missense_Mutation_p.S1166F|ANK3_uc001jkz.4_Missense_Mutation_p.S1159F|ANK3_uc001jla.1_Missense_Mutation_p.S231F|ANK3_uc001jlb.1_Missense_Mutation_p.S683F	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1165					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						CTCTGGGAAAGATGCTTGAAC	0.488000														132			31		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151773863	151773863	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:151773863G>A	uc010ipj.3	-	22	3243	c.2999C>T	c.(2998-3000)tCa>tTa	p.S1000L	LRBA_uc003ilu.4_Missense_Mutation_p.S1000L	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1000						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGATTCTAGTGAACTTGTCTT	0.378000														76			22		0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65274970	65274970	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:65274970G>A	uc003hcv.3	-	0	209	c.100C>T	c.(100-102)Cac>Tac	p.H34Y	TECRL_uc003hcw.3_Missense_Mutation_p.H34Y	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	34					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GACAAAAAGTGAAAATTTCTC	0.413000														71			29		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140183064	140183064	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140183064G>A	uc003lhf.2	+	0	2282	c.2282G>A	c.(2281-2283)gGa>gAa	p.G761E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.G761E	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	752					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)			GTGTGCTCTGGAGAGGGGTTG	0.607000														108			33		0	0	1	0	0
QARS	5859	broad.mit.edu	37	3	49137072	49137072	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49137072G>A	uc003cvx.3	-	15	1402	c.1397C>T	c.(1396-1398)tCc>tTc	p.S466F	QARS_uc011bcc.2_5'Flank|QARS_uc011bcd.2_Missense_Mutation_p.S321F|QARS_uc003cvy.3_Missense_Mutation_p.S321F|QARS_uc011bce.2_Missense_Mutation_p.S455F	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	466					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CCAGAAGTAGGAAGAGCGTCT	0.567000														56			5		0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31763243	31763243	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31763243A>G	uc002wyo.1	+	4	512	c.441A>G	c.(439-441)aaA>aaG	p.K147K		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.	147						extracellular region	lipid binding										TCAACCTGAAAGCCTCCTTGG	0.537000														126			50		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388446	48388446	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48388446G>A	uc001jez.3	-	0	2546	c.2432C>T	c.(2431-2433)tCt>tTt	p.S811F		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	811	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTCAAAGACAGAATACAGGTG	0.607000														14			9		0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117245	20117245	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:20117245G>A	uc002noq.3	-	3	1189	c.1066C>T	c.(1066-1068)Ctt>Ttt	p.L356F	ZNF682_uc002noo.3_Missense_Mutation_p.L324F|ZNF682_uc002nop.3_Missense_Mutation_p.L324F|ZNF682_uc010eck.3_Missense_Mutation_p.L280F	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TGTTCAGTAAGAATTGATGAT	0.368000														55			21		0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128029016	128029016	+	Missense_Mutation	SNP	G	A	A	rs139049289		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:128029016G>A	uc002toh.1	-	11	1936	c.1841C>T	c.(1840-1842)tCg>tTg	p.S614L	ERCC3_uc002toe.1_Missense_Mutation_p.S369L|ERCC3_uc002tof.1_Missense_Mutation_p.S550L|ERCC3_uc002tog.1_Missense_Mutation_p.S550L	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	614	Helicase C-terminal.				DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CAGATCAAACGAAGTGTCACC	0.423000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					119			55		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605290	171605290	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171605290G>A	uc001ghu.3	-	2	1312	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	MYOC_uc010pmk.2_Silent_p.F372F	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	430	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CACAGATGATGAAGGCATTGG	0.507000														131			47		0	0	1	0	0
PRSS42	339906	broad.mit.edu	37	3	46874578	46874578	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46874578G>A	uc011bap.2	-	2	490	c.490C>T	c.(490-492)Cga>Tga	p.R164*	PRSS42_uc003cqj.3_Nonsense_Mutation_p.R60*	NM_182702	NP_874361	Q7Z5A4	PRS42_HUMAN	Homo sapiens protease, serine, 42 (PRSS42), mRNA.	164	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						AGGTCATTTCGAATGGTTGTA	0.458000														52			32		0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42821976	42821976	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42821976G>A	uc002otk.1	+	11	1068	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	339						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GTCTCACTGCGACACTTTCCT	0.582000														122			8		0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153554	5153554	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5153554G>A	uc010qyx.2	-	0	319	c.319C>T	c.(319-321)Cac>Tac	p.H107Y		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGAATGAGTGAATAAGCCAC	0.448000														56			6		0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729720	62729720	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62729720C>T	uc002yic.3	+	4	1100	c.681C>T	c.(679-681)ccC>ccT	p.P227P	OPRL1_uc002yid.3_Silent_p.P227P|OPRL1_uc021wgs.1_Silent_p.P227P|OPRL1_uc002yif.4_Silent_p.P222P	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	227					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TCATCGTCCCCGTGCTCGTCA	0.622000														116			58		0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50159027	50159027	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:50159027G>A	uc002xwd.3	-	0	232	c.12C>T	c.(10-12)ccC>ccT	p.P4P	NFATC2_uc002xwc.3_Silent_p.P4P|NFATC2_uc010zyv.2_5'UTR|NFATC2_uc010zyw.2_5'UTR|NFATC2_uc002xwe.3_Intron|NFATC2_uc010zyx.2_Intron|NFATC2_uc010zyy.2_Intron|NFATC2_uc010zyz.2_Intron	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	4					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCTGCCGCTCGGGGGCGTTCA	0.751000														11			3		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255615	15255615	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15255615G>A	uc001iob.3	-	7	1979	c.1972C>T	c.(1972-1974)Cct>Tct	p.P658S		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	658						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCGTTCTGAGGGCTCCACTCC	0.607000														71			19		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70913230	70913230	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:70913230G>A	uc002ezr.3	-	61	10675	c.10524C>T	c.(10522-10524)atC>atT	p.I3508I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3509										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)				TGTTCTTGAGGATGAGAGGCA	0.507000														9			5		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139909458	139909458	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139909458G>A	uc004ckm.1	-	24	3926	c.3876C>T	c.(3874-3876)gcC>gcT	p.A1292A	ABCA2_uc022bpy.1_Silent_p.A1193A|ABCA2_uc022bpz.1_Silent_p.A1263A|ABCA2_uc011mem.1_Silent_p.A1262A|ABCA2_uc004ckl.1_Silent_p.A1193A|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1262					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCAGGCAGGAGGCCACATGCT	0.667000														34			9		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101344485	101344485	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:101344485G>A	uc001pgk.4	-	6	2189	c.1764C>T	c.(1762-1764)ccC>ccT	p.P588P	TRPC6_uc009ywy.3_Silent_p.P472P|TRPC6_uc009ywz.1_Silent_p.P533P	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	588					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GAGGATCAGAGGGGTCCCACT	0.348000														98			54		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142561068	142561068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142561068C>T	uc011kst.2	+	4	870	c.83C>T	c.(82-84)tCa>tTa	p.S28L	EPHB6_uc011ksu.2_Missense_Mutation_p.S28L|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	28						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTGGTGTCTTCAGTTCTGGCT	0.557000														38			14		0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6476061	6476061	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:6476061G>A	uc003sqa.3	-	2	521	c.351C>T	c.(349-351)gcC>gcT	p.A117A	DAGLB_uc011jwt.2_5'Flank|DAGLB_uc011jwu.2_Silent_p.A117A|DAGLB_uc003sqb.3_Intron|DAGLB_uc003sqc.3_Intron|DAGLB_uc011jwv.2_Intron|DAGLB_uc003sqd.4_Silent_p.A76A|DAGLB_uc011jww.1_Intron	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	117					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CTGCCACCCAGGCAGCCCCCA	0.542000														120			66		0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6783476	6783476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:6783476G>A	uc003wqt.3	-	0	123	c.82C>T	c.(82-84)Cca>Tca	p.P28S		NM_001926	NP_001917	Q01524	DEF6_HUMAN	Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA.	28					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GCCTGCAGTGGATCATCCTCA	0.577000														19			10		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43634857	43634857	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:43634857C>T	uc003bdt.2	-	6	958	c.831G>A	c.(829-831)ggG>ggA	p.G277G	SCUBE1_uc003bdu.2_Silent_p.G307G	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	277	EGF-like 5 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGCATGTCTTCCCGTCCGGCT	0.637000														48			8		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62542072	62542072	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:62542072C>T	uc001xfu.1	+	2	1153	c.956C>T	c.(955-957)tCc>tTc	p.S319F	SYT16_uc010tsd.1_Missense_Mutation_p.S319F	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	319								p.S319C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TTTGAAGATTCCTATGCCACT	0.502000														130			38		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61894123	61894123	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61894123G>A	uc001jky.3	-	24	3085	c.2747C>T	c.(2746-2748)tCc>tTc	p.S916F	ANK3_uc001jkw.3_Missense_Mutation_p.S50F|ANK3_uc009xpa.3_Missense_Mutation_p.S50F|ANK3_uc001jkx.3_Missense_Mutation_p.S94F|ANK3_uc010qih.2_Missense_Mutation_p.S917F|ANK3_uc001jkz.4_Missense_Mutation_p.S910F|ANK3_uc001jla.1_5'Flank|ANK3_uc001jlb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	916					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.R915L(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGAACTGAAGGAGCGGAGGCT	0.418000														28			12		0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151105853	151105854	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151105853_151105854GG>AA	uc001ewv.3	-	19	2331_2332	c.1995_1996CC>TT	c.(1993-1998)caccga>caTTga	p.R666*	SEMA6C_uc001ewu.3_Nonsense_Mutation_p.R634*|SEMA6C_uc001eww.3_Nonsense_Mutation_p.R626*	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	634	Poly-Pro.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCCGACGTCGGTGGGCGCGGC	0.728000														15			7		0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70236545	70236545	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:70236545C>T	uc003tvw.4	+	10	2480	c.1745C>T	c.(1744-1746)tCc>tTc	p.S582F	AUTS2_uc003tvx.4_Missense_Mutation_p.S582F|AUTS2_uc011keg.2_Missense_Mutation_p.S34F	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	582										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CTCTTCCATTCCTATCCTCCT	0.493000														79			38		0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18539819	18539819	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:18539819G>A	uc002kte.3	-	28	4435	c.3494C>T	c.(3493-3495)tCt>tTt	p.S1165F		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	1165	Auto-inhibitory.|PH.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CAATACCATAGATGGATTGGA	0.303000														35			10		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882500	228882500	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228882500C>T	uc002vpq.2	-	6	3117	c.3070G>A	c.(3070-3072)Gag>Aag	p.E1024K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1024K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1024K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1024						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCATGGACTCATCCACAACC	0.498000														120			30		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49557646	49557646	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:49557646G>A	uc002efs.3	-	7	4012	c.3714C>T	c.(3712-3714)ttC>ttT	p.F1238F	ZNF423_uc010vgn.2_Silent_p.F1121F	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	1238					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.V1237V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGCCTGGACGAAGACTAGAC	0.587000														32			10		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16008341	16008341	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16008341G>A	uc002nbs.1	-	1	131	c.81C>T	c.(79-81)gcC>gcT	p.A27A	CYP4F2_uc010xot.1_Intron|CYP4F2_uc010xou.1_5'UTR	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	27					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGAGCCAGGAGGCCCCGACCA	0.647000														80			21		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231216	21231216	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21231216C>T	uc002red.3	-	25	8652	c.8524G>A	c.(8524-8526)Gaa>Aaa	p.E2842K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2842					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AACAGCATTTCACTCCCATGC	0.418000														216			23		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291034	33291034	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:33291034C>T	uc001wrq.3	+	12	4185	c.4015C>T	c.(4015-4017)Ctt>Ttt	p.L1339F		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1339					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTTGCCAGATCTTCTAGGTGG	0.433000														41			13		0	0	1	0	0
LANCL2	55915	broad.mit.edu	37	7	55467736	55467736	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55467736C>T	uc003tqp.3	+	3	1195	c.617C>T	c.(616-618)gCc>gTc	p.A206V		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.	206					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|GTP binding|catalytic activity|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TATCTGTATGCCTTACTGTAC	0.473000														114			33		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11302087	11302087	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:11302087G>A	uc010hdr.3	+	1	1706	c.1364G>A	c.(1363-1365)tGg>tAg	p.W455*	HRH1_uc010hds.3_Nonsense_Mutation_p.W455*|HRH1_uc010hdt.3_Nonsense_Mutation_p.W455*|HRH1_uc003bwb.4_Nonsense_Mutation_p.W455*|HRH1_uc021wtb.1_Nonsense_Mutation_p.W455*	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	455					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TTCACCATCTGGCTGGGCTAC	0.453000														208			41		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768756	117768756	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117768756G>A	uc001twn.2	-	1	830	c.119C>T	c.(118-120)cCc>cTc	p.P40L	NOS1_uc001twm.2_Missense_Mutation_p.P40L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	40	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GATGATCACGGGCGGCTTACT	0.587000														78			15		0	0	1	0	0
SCIN	85477	broad.mit.edu	37	7	12691524	12691524	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:12691524C>T	uc003ssn.4	+	14	2228	c.2018C>T	c.(2017-2019)tCt>tTt	p.S673F	SCIN_uc010ktt.3_Non-coding_Transcript|SCIN_uc003sso.4_Missense_Mutation_p.S426F	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	673	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	p.K672T(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCTCTGAAGTCTGGTAAGCTC	0.368000														6			4		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89948163	89948163	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89948163G>A	uc003kju.3	+	19	3513	c.3417_splice	c.e19-1	p.W1139_splice	GPR98_uc003kjt.3_Splice_Site	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1139					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATTTTGTAGGATTTTGAGGC	0.343000														111			39		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54894327	54894327	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54894327G>A	uc001sgc.4	+	2	303	c.224G>A	c.(223-225)gGa>gAa	p.G75E	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.G25E	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	75					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CAACATTTAGGACCAGTACAT	0.373000														139			57		0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25023478	25023478	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25023478C>T	uc003aan.1	+	11	1587	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	GGT1_uc003aas.1_Missense_Mutation_p.S367F|GGT1_uc003aat.1_Missense_Mutation_p.S367F|GGT1_uc003aau.2_Missense_Mutation_p.S367F|GGT1_uc003aav.2_Missense_Mutation_p.S367F|GGT1_uc003aaw.2_Missense_Mutation_p.S367F|GGT1_uc003aax.2_Missense_Mutation_p.S367F|GGT1_uc003aay.1_Missense_Mutation_p.S23F	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	367					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CACCCGATCTCCTACTACAAG	0.637000														46			5		0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58453672	58453672	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58453672G>A	uc002qqu.3	-	2	739	c.504C>T	c.(502-504)ttC>ttT	p.F168F	ZNF256_uc010euj.3_Silent_p.F15F	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	Homo sapiens zinc finger protein 256 (ZNF256), mRNA.	168					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		CCTTGCAAGTGAAGGGCTTCC	0.478000														108			10		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411138	23411138	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:23411138G>A	uc004dal.4	+	2	1511	c.1503G>A	c.(1501-1503)aaG>aaA	p.K501K		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	501					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CCTATGTCAAGCCTTTTGTAG	0.428000														57			81		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72164243	72164243	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:72164243C>T	uc002fcc.4	-	11	1838	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	PMFBP1_uc002fcd.3_Missense_Mutation_p.E551K|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Missense_Mutation_p.E406K|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	556										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AATGACAGCTCCTCCACCCGT	0.478000														41			25		0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10689751	10689751	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:10689751C>T	uc001arn.3	+	8	862	c.841C>T	c.(841-843)Cac>Tac	p.H281Y	PEX14_uc009vmv.3_Missense_Mutation_p.H217Y|PEX14_uc010oam.2_Missense_Mutation_p.H217Y|PEX14_uc010oan.2_Missense_Mutation_p.H238Y|PEX14_uc009vmw.3_Missense_Mutation_p.H217Y	NM_004565	NP_004556	O75381	PEX14_HUMAN	Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.	281					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GAAGGAGGGCCACAGCCCCGA	0.677000														16			7		0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562460	32562460	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:32562460C>T	uc001wrl.3	+	1	2824	c.2585C>T	c.(2584-2586)tCg>tTg	p.S862L	ARHGAP5_uc001wrm.3_Missense_Mutation_p.S862L|ARHGAP5_uc001wrn.3_Missense_Mutation_p.S862L|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	862					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CGGAAAGCTTCGATGGGAATG	0.378000														52			17		0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41628036	41628036	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41628036G>A	uc002opu.1	+	5	876	c.820G>A	c.(820-822)Gag>Aag	p.E274K	CYP2F1_uc021uuv.1_Missense_Mutation_p.E60K|CYP2F1_uc010xvv.1_Missense_Mutation_p.E274K|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	274					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CAAGATGGCAGAGGTAATCCC	0.602000														27			12		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466958	56466958	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56466958G>A	uc002qmh.3	+	2	1605	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	NLRP8_uc010etg.3_Missense_Mutation_p.E512K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	512	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GACTTTTCAGGAATTTTTTGC	0.468000														209			64		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33591242	33591242	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:33591242C>T	uc001uus.3	+	0	672	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	222	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTACGCGGAGCTCTGCTTCCG	0.692000														32			4		0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71068757	71068757	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:71068757G>A	uc003xyn.1	-	10	2005	c.1843C>T	c.(1843-1845)Ccc>Tcc	p.P615S		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	615					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGCAGGTTGGGGTCATTTGTT	0.552000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									94			26		0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291460	141291460	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:141291460G>A	uc022cfj.1	-	0	314	c.314C>T	c.(313-315)tCc>tTc	p.S105F	MAGEC2_uc004fbu.2_Missense_Mutation_p.S105F	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	105	Ser-rich.					cytoplasm|nucleus		p.C104S(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAAAAGAGGAGCAGCAGGA	0.557000										HNSCC(46;0.14)				26			26		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227886796	227886797	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:227886796_227886797CC>TT	uc021vxr.1	-	42	4284_4285	c.4183_4184GG>AA	c.(4183-4185)ggg>AAg	p.G1395K	COL4A4_uc021vxs.1_Missense_Mutation_p.G1392K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1395	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCAGGGAGCCCCATGGCTCCT	0.520000														172			56		0	0	1	0	0
RSPO3	84870	broad.mit.edu	37	6	127476394	127476394	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:127476394G>A	uc003qas.1	+	3	735	c.445G>A	c.(445-447)Gag>Aag	p.E149K	RSPO3_uc003qar.3_Missense_Mutation_p.E149K	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	Homo sapiens R-spondin 3 (RSPO3), mRNA.	149	TSP type-1.					extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		AGTGCACTGTGAGGTCAGTGA	0.428000														96			57		0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124515320	124515320	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124515320G>A	uc003eho.3	-	9	1905	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	536	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		ACTCGCTCTCGAAGCAGGAGC	0.602000														90			28		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40790031	40790031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:40790031C>T	uc002xkg.3	-	16	2827	c.2643G>A	c.(2641-2643)atG>atA	p.M881I	PTPRT_uc010ggj.3_Missense_Mutation_p.M900I|PTPRT_uc010ggi.3_Missense_Mutation_p.M84I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	881					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCCTCTCTTCATCTGCGTGA	0.562000														73			28		0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25674066	25674066	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:25674066G>A	uc011awn.1	-	9	1180	c.1137C>T	c.(1135-1137)aaC>aaT	p.N379N	TOP2B_uc003cdj.2_Silent_p.N374N|TOP2B_uc021wug.1_Silent_p.N374N	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	379					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CCCATATATGGTTTTTTACCT	0.299000														21			7		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113649088	113649088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:113649088C>T	uc003ynu.3	-	21	3832	c.3673G>A	c.(3673-3675)Ggt>Agt	p.G1225S	CSMD3_uc003yns.3_Missense_Mutation_p.G497S|CSMD3_uc003ynt.3_Missense_Mutation_p.G1185S|CSMD3_uc011lhx.2_Missense_Mutation_p.G1121S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1225	Sushi 6.					integral to membrane|plasma membrane				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						CGTCGGCCACCACCAAGACAG	0.507000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				65			23		0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156378712	156378712	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156378712G>A	uc003lwh.2	-	2	547	c.490C>T	c.(490-492)Cca>Tca	p.P164S	TIMD4_uc010jii.2_Missense_Mutation_p.P164S	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	164	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTGCAGCTGGGGTTGTTGTC	0.532000														184			83		0	0	1	0	0
FAM123A	219287	broad.mit.edu	37	13	25744230	25744230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25744230C>T	uc001uqb.3	-	0	1628	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	FAM123A_uc001uqa.3_Missense_Mutation_p.E391K|FAM123A_uc001uqc.3_Missense_Mutation_p.E391K	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	Homo sapiens family with sequence similarity 123A (FAM123A), transcript variant 1, mRNA.	510										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGCTCCTTCTCCGGGTGCTTG	0.652000														86			24		0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15197632	15197632	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:15197632G>A	uc001mlz.3	+	3	513	c.402_splice	c.e3+1	p.E134_splice	INSC_uc001mly.3_Splice_Site_p.E181_splice|INSC_uc001mma.3_Splice_Site_p.E134_splice|INSC_uc010rcs.2_Splice_Site_p.E134_splice|INSC_uc001mmb.3_Splice_Site_p.E134_splice|INSC_uc001mmc.3_Splice_Site_p.E134_splice	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	181					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AAATGGGCGAGGTCAGCTGCC	0.557000														1			3		0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90020813	90020813	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90020813G>A	uc002bnz.2	-	6	1071	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	RHCG_uc002boa.2_Intron	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Homo sapiens Rh family, C glycoprotein (RHCG), mRNA.	349					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TGCCGCCTATGATGCCAGGAA	0.582000														73			6		0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134256002	134256002	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:134256002C>T	uc003eqo.1	+	6	896	c.447C>T	c.(445-447)ttC>ttT	p.F149F	CEP63_uc003eql.1_Silent_p.F149F|CEP63_uc003eqm.3_Silent_p.F149F|CEP63_uc003eqn.1_Silent_p.F149F	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	149					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTCAGGAATTCCGTCAGAAAT	0.463000														68			31		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56387432	56387432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56387432C>T	uc002ivx.4	-	20	4658	c.3787G>A	c.(3787-3789)Gaa>Aaa	p.E1263K	BZRAP1_uc010dcs.3_Missense_Mutation_p.E1203K|BZRAP1_uc010wnt.2_Missense_Mutation_p.E1263K	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1263	Poly-Glu.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					tcttcctcttcctcctGGATG	0.577000														65			28		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123489863	123489863	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:123489863C>T	uc001uej.1	-	5	1075	c.876G>A	c.(874-876)ggG>ggA	p.G292G	PITPNM2_uc001uek.1_Silent_p.G292G|PITPNM2_uc009zxu.1_Silent_p.G292G	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	292					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CTAGGGGCTCCCCATTGCTGC	0.647000														52			26		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502112	90502112	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90502112G>A	uc004app.4	+	3	2745	c.2710G>A	c.(2710-2712)Gga>Aga	p.G904R	FAM75E1_uc004apo.1_Missense_Mutation_p.G716R	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	904						integral to membrane											GAATGGTCCAGGAGACAACAG	0.597000														60			10		0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30881934	30881934	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:30881934G>A	uc001rji.1	-	7	2181	c.1430C>T	c.(1429-1431)cCt>cTt	p.P477L	CAPRIN2_uc001rjf.1_Missense_Mutation_p.P274L|CAPRIN2_uc001rjg.1_Missense_Mutation_p.P144L|CAPRIN2_uc001rjh.1_Missense_Mutation_p.P477L|CAPRIN2_uc001rjk.4_Missense_Mutation_p.P477L|CAPRIN2_uc001rjj.1_Missense_Mutation_p.P144L|CAPRIN2_uc001rjl.4_Missense_Mutation_p.P477L|CAPRIN2_uc001rjm.1_Missense_Mutation_p.P144L|CAPRIN2_uc001rjn.1_Missense_Mutation_p.P144L	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	477					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTTGGATTTAGGTGTATCTTG	0.468000														125			62		0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9498830	9498830	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9498830C>T	uc002wni.2	+	4	1114	c.619C>T	c.(619-621)Cac>Tac	p.H207Y	LAMP5_uc010zrc.2_Missense_Mutation_p.H163Y	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	207						integral to membrane											GTCTGCGGTCCACATCCAACC	0.483000														78			5		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19184088	19184088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19184088C>T	uc002dfw.3	+	1	353	c.22C>T	c.(22-24)Cca>Tca	p.P8S	SYT17_uc002dfx.3_5'UTR|SYT17_uc002dfy.3_Missense_Mutation_p.P4S	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	8						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GCAGTTGGAACCATTAAACGA	0.433000														59			14		0	0	1	0	0
FAM3D	131177	broad.mit.edu	37	3	58620087	58620087	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58620087C>T	uc003dkq.3	-	9	891	c.594G>A	c.(592-594)aaG>aaA	p.K198K		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	Homo sapiens family with sequence similarity 3, member D (FAM3D), mRNA.	198					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CTGGGCTGTTCTTTAAGAACT	0.507000														79			34		0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46327170	46327170	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:46327170C>T	uc010haa.2	-	2	517	c.390G>A	c.(388-390)ggG>ggA	p.G130G	WNT7B_uc003bgo.2_Silent_p.G126G	NM_058238	NP_478679	P56706	WNT7B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7B (WNT7B), mRNA.	126					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	p.S129N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCAGGTTCCCTTGGCTGC	0.687000														47			25		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431120	135431120	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:135431120C>T	uc004ezu.1	+	5	5546	c.5255C>T	c.(5254-5256)tCa>tTa	p.S1752L	GPR112_uc010nsb.1_Missense_Mutation_p.S1547L|GPR112_uc010nsc.1_Missense_Mutation_p.S1519L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1752					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATATGCTTTCACCTACTCAT	0.413000														76			50		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157650834	157650834	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157650834G>A	uc001fqz.4	-	11	2186	c.1894C>T	c.(1894-1896)Cct>Tct	p.P632S	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.P358S|FCRL3_uc001frb.3_Missense_Mutation_p.P632S|FCRL3_uc001frc.1_Missense_Mutation_p.P632S	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	632						integral to membrane|plasma membrane	receptor activity	p.D631H(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGCTCTTGAGGGTCTATCCTG	0.542000														36			16		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185012502	185012502	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:185012502C>T	uc003iwc.3	-	7	1293	c.1151G>A	c.(1150-1152)aGg>aAg	p.R384K		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	384					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GTCCACCGACCTGATAGGAGC	0.542000														98			8		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38131207	38131207	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38131207C>T	uc003atr.3	+	8	5135	c.4864C>T	c.(4864-4866)Cct>Tct	p.P1622S	TRIOBP_uc003atu.3_Missense_Mutation_p.P1450S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1622					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AAACGATGTCCCTGAGCAGGA	0.677000											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			20		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121290766	121290766	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:121290766G>A	uc003yox.3	+	27	3695	c.3430G>A	c.(3430-3432)Gga>Aga	p.G1144R	COL14A1_uc003yoz.3_Missense_Mutation_p.G109R	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1144	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TATAACTGATGGAAGATCACA	0.373000														46			20		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55351112	55351112	+	Missense_Mutation	SNP	G	A	A	rs111312586	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55351112G>A	uc002qhm.1	+	4	644	c.598G>A	c.(598-600)Gag>Aag	p.E200K	KIR3DL2_uc010yfj.2_Silent_p.T193T|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Silent_p.T200T|KIR3DL2_uc002qhn.1_Intron	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	303	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CGCTCCCTACGAGTGGTCAAA	0.567000														76			117		0	0	1	0	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086784	46086784	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46086784G>A	uc002zfu.3	-	0	61	c.20C>T	c.(19-21)tCc>tTc	p.S7F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	Homo sapiens keratin associated protein 12-2 (KRTAP12-2), mRNA.	7						keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						GCAGCCCGAGGAGCAGCTGGT	0.667000														16			9		0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153219	5153219	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5153219G>A	uc010qyx.2	-	0	654	c.654C>T	c.(652-654)acC>acT	p.T218T		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T218A(1)|p.I217M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CATAGGACAAGGTTATAAATA	0.423000														70			36		0	0	1	0	0
WNT11	7481	broad.mit.edu	37	11	75898246	75898246	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:75898246C>T	uc001oxe.3	-	4	1051	c.928G>A	c.(928-930)Gac>Aac	p.D310N		NM_004626	NP_004617	O96014	WNT11_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.	310					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|Ras GTPase activator activity|protein kinase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CACATAAGGTCGCAGCTGTCG	0.607000														41			22		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51265502	51265502	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:51265502G>A	uc011bds.2	+	16	1653	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	544	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGATATTCACGAGCTTTATGT	0.478000														31			18		0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33327494	33327494	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:33327494G>A	uc010abf.3	+	24	2947	c.2761G>A	c.(2761-2763)Gtg>Atg	p.V921M	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	921					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGTAAGACAAGTGTTTGCCCA	0.383000														98			38		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903942	5903942	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:5903942G>A	uc002wmg.3	+	3	1458	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	CHGB_uc010zqz.2_Silent_p.E67E	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	384						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGGATGAGGAGGACAAGAGAA	0.552000														125			27		0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3255061	3255061	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3255061C>T	uc010uwu.2	+	0	815	c.815C>T	c.(814-816)aCt>aTt	p.T272I		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GAGAAAGACACTATGGCTACT	0.468000														144			40		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475396	120475396	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:120475396C>T	uc004bjz.3	+	2	1281	c.990C>T	c.(988-990)ttC>ttT	p.F330F	TLR4_uc004bkb.3_Silent_p.F130F|TLR4_uc004bka.3_Silent_p.F290F	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	330					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.F330F(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CTTATAATTTCGGATGGCAAC	0.323000														77			20		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41015551	41015551	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41015551C>T	uc003jmj.4	-	28	3404	c.2914G>A	c.(2914-2916)Ggt>Agt	p.G972S	HEATR7B2_uc003jmi.4_Missense_Mutation_p.G527S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	972							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						TCCTGCAAACCCTGCAGTCTT	0.413000														53			19		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228175562	228175562	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228175562G>A	uc002vom.2	+	50	4988	c.4826G>A	c.(4825-4827)cGa>cAa	p.R1609Q	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron|COL4A3_uc010fxf.2_Missense_Mutation_p.R25Q|COL4A3_uc021vxt.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1609	Collagen IV NC1.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAAGAATTCCGAGCCAGCCCA	0.463000														83			19		0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60557969	60557969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60557969G>A	uc001npz.1	+	1	257	c.161G>A	c.(160-162)aGc>aAc	p.S54N		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	54						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CAGAAGAAGAGCAGCCTTCTT	0.632000														63			23		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128491636	128491636	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128491636C>T	uc003vnz.4	+	34	6005	c.5796C>T	c.(5794-5796)ttC>ttT	p.F1932F	FLNC_uc003voa.4_Silent_p.F1899F	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1932					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCGTGCGCTTCGATGACAAGC	0.577000														70			29		0	0	1	0	0
FAM217B	63939	broad.mit.edu	37	20	58519433	58519433	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:58519433C>T	uc021wft.1	+	0	435	c.435C>T	c.(433-435)ttC>ttT	p.F145F	FAM217B_uc002yba.3_Silent_p.F145F|FAM217B_uc002ybc.3_Silent_p.F145F|FAM217B_uc010zzx.2_Intron	NM_001190827	NP_001177756	Q9NTX9	CT177_HUMAN	Homo sapiens chromosome 20 open reading frame 177 (C20orf177), transcript variant 3, mRNA.	145																	ATCCTAATTTCCTTCCATCCC	0.483000														101			8		0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125875776	125875776	+	Missense_Mutation	SNP	G	A	A	rs145492265		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:125875776G>A	uc009zbw.3	-	8	1857	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	CDON_uc001qdb.4_5'Flank|CDON_uc001qdc.4_Missense_Mutation_p.P577S|CDON_uc001qdd.4_Non-coding_Transcript	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	577	Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	p.P577S(2)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GGGGCATCAGGAACAGAGATG	0.562000														76			33		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230231657	230231657	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:230231657C>T	uc002vpv.3	-	11	2181	c.2034G>A	c.(2032-2034)gaG>gaA	p.E678E		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	678	Interaction with AP1G1 and somatodendritic targeting (By similarity).				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGTAGAACTCCTCATAGGCTG	0.582000														47			22		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13717553	13717553	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13717553G>A	uc003jfd.2	-	72	12618	c.12576C>T	c.(12574-12576)caC>caT	p.H4192H	DNAH5_uc003jfc.2_Silent_p.H360H	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4192	AAA 6 (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)					GGACAGTGGAGTGCAGGAAAG	0.547000									Kartagener syndrome					43			14		0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68160436	68160436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:68160436C>T	uc002evo.2	+	2	1640	c.1324C>T	c.(1324-1326)Cat>Tat	p.H442Y	NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Missense_Mutation_p.H442Y|NFATC3_uc002evm.2_Missense_Mutation_p.H442Y|NFATC3_uc002evn.2_Missense_Mutation_p.H442Y|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	442	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ACCTAAAACTCATCATCGAGC	0.438000														60			35		0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187093119	187093119	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187093119G>A	uc003iyt.4	+	13	2006	c.1427G>A	c.(1426-1428)aGg>aAg	p.R476K	FAM149A_uc010isl.3_Missense_Mutation_p.R476K|FAM149A_uc011clb.2_Missense_Mutation_p.R475K	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	767										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		ACTTTCAAGAGGAGATTCCAA	0.418000														96			13		0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119962183	119962183	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:119962183C>T	uc001ehs.3	+	1	1058	c.285C>T	c.(283-285)tcC>tcT	p.S95S	HSD3B2_uc021ost.1_Silent_p.S95S|HSD3B2_uc001eht.3_Silent_p.S95S|HSD3B2_uc001ehu.3_Silent_p.S95S	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	95					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	ACAGAGAGTCCATCATGAATG	0.463000														62			33		0	0	1	0	0
ZNF74	7625	broad.mit.edu	37	22	20760277	20760277	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:20760277C>T	uc010gsm.3	+	5	1166	c.954C>T	c.(952-954)tcC>tcT	p.S318S	ZNF74_uc002zsg.3_Silent_p.S247S|ZNF74_uc002zsh.3_Silent_p.S318S|ZNF74_uc002zsi.3_Silent_p.S247S|ZNF74_uc010gsn.3_Silent_p.S247S	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.	318					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCACTCGTCCCTCAACGTGC	0.657000														79			35		0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129929579	129929579	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:129929579C>T	uc003vpq.3	+	10	1271	c.1252C>T	c.(1252-1254)Ccc>Tcc	p.P418S		NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	418					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GCGAGACCACCCCTATTAGGG	0.522000														64			28		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65627693	65627693	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65627693G>A	uc002aos.2	-	3	873	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	207	Ig-like C2-type 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCACACAGTGGAAGATGCCAC	0.597000														67			64		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14791399	14791399	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:14791399G>A	uc010dlo.2	+	16	1915	c.1735_splice	c.e16-1	p.S579_splice	ANKRD30B_uc010xak.2_Splice_Site|ANKRD30B_uc021uhy.1_Splice_Site_p.S579_splice	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	579										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACTTTTAACAGAGTCCCTGTG	0.299000														72			13		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123283252	123283252	+	Silent	SNP	C	T	T	rs35817975		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:123283252C>T	uc003ieh.3	+	83	14913	c.14868C>T	c.(14866-14868)ggC>ggT	p.G4956G	KIAA1109_uc003iem.3_Silent_p.G1312G	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4956					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAAATTGGGCTTTCATCATG	0.353000														166			29		0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210187104	210187104	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:210187104C>T	uc001hhs.4	+	3	381	c.323C>T	c.(322-324)tCa>tTa	p.S108L	SYT14_uc001hht.4_Missense_Mutation_p.S63L|SYT14_uc010psn.2_Missense_Mutation_p.S108L|SYT14_uc001hhu.4_Non-coding_Transcript|SYT14_uc010pso.2_Missense_Mutation_p.S25L|SYT14_uc009xcv.3_Missense_Mutation_p.S63L	NM_001146261	NP_001139733	Q8NB59	SYT14_HUMAN	Homo sapiens synaptotagmin XIV (SYT14), transcript variant 1, mRNA.	63						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		GATCTTGGTTCAGAATACAGT	0.328000														126			43		0	0	1	0	0
SLC38A9	153129	broad.mit.edu	37	5	54929585	54929585	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:54929585G>A	uc003jqf.2	-	13	2019	c.1427C>T	c.(1426-1428)cCt>cTt	p.P476L	SLC38A9_uc003jqd.2_Missense_Mutation_p.P413L|SLC38A9_uc010ivx.2_Missense_Mutation_p.P413L|SLC38A9_uc003jqe.2_Non-coding_Transcript|SLC38A9_uc010ivy.2_Missense_Mutation_p.P347L	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	Homo sapiens solute carrier family 38, member 9 (SLC38A9), mRNA.	476					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				CCCTTACCTAGGATAAATGTC	0.458000														33			15		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911199	230911199	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:230911199C>T	uc002vqd.2	-	3	1102	c.643G>A	c.(643-645)Ggt>Agt	p.G215S	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.G215S|SLC16A14_uc002vqf.3_Missense_Mutation_p.G215S	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	215						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GGGTTTTTACCAGGAGAGAGG	0.552000														81			43		0	0	1	0	0
TNNT3	7140	broad.mit.edu	37	11	1955049	1955049	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1955049C>T	uc001luu.4	+	9	482	c.270C>T	c.(268-270)gtC>gtT	p.V90V	TNNT3_uc001lun.2_Intron|TNNT3_uc001luw.4_Silent_p.V82V|TNNT3_uc001luo.4_Silent_p.V82V|TNNT3_uc001lup.4_Silent_p.V88V|TNNT3_uc001luq.4_Silent_p.V82V|TNNT3_uc001lur.3_Silent_p.V82V|TNNT3_uc010qxf.2_Silent_p.V88V|TNNT3_uc010qxg.2_Silent_p.V22V	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	101					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		AGGAGCTGGTCGCTCTCAAAG	0.597000														68			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179631337	179631337	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179631337G>A	uc021vsy.1	-	40	9699	c.9474C>T	c.(9472-9474)gtC>gtT	p.V3158V	TTN_uc021vsz.1_Silent_p.V3112V|TTN_uc021vta.1_Silent_p.V3112V|TTN_uc021vtb.1_Silent_p.V3112V|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Silent_p.V3158V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3158							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R3158*(1)		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)			GTTTCTCAATGACCTGTTGAT	0.368000														43			14		0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176295654	176295655	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176295654_176295655CC>TT	uc003mey.3	+	3	721_722	c.529_530CC>TT	c.(529-531)cct>TTt	p.P177F	UNC5A_uc003mex.1_Missense_Mutation_p.P177F|UNC5A_uc010jkg.1_Missense_Mutation_p.P137F	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	177	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGGGCATCCCTCCAGCCGAG	0.668000														6			3		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915014	119915014	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:119915014G>A	uc003vjj.1	+	0	1293	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	110					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.H109H(2)		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)					TCCTCGCCACGAGTGCATCTC	0.527000														199			53		0	0	1	0	0
MR1	3140	broad.mit.edu	37	1	181021631	181021631	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181021631C>T	uc001goq.2	+	4	1026	c.865C>T	c.(865-867)Ctt>Ttt	p.L289F	MR1_uc001gor.2_Missense_Mutation_p.L244F|MR1_uc001gos.2_Intron|MR1_uc010pns.2_Intron	NM_001531	NP_001522	Q95460	HMR1_HUMAN	Homo sapiens major histocompatibility complex, class I-related (MR1), transcript variant 1, mRNA.	289	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	MHC class I protein complex|endoplasmic reticulum|extracellular region|integral to membrane	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						CCACATGGTTCTTCAGGTCCC	0.582000														37			19		0	0	1	0	0
FXYD5	53827	broad.mit.edu	37	19	35657175	35657175	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35657175G>A	uc010xsq.2	+	7	522	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	FXYD5_uc002nyg.2_Missense_Mutation_p.R145Q|FXYD5_uc021usk.1_Missense_Mutation_p.R145Q|FXYD5_uc002nyh.2_Missense_Mutation_p.R145Q|FXYD5_uc021usl.1_Missense_Mutation_p.R145Q|FXYD5_uc002nyi.2_Missense_Mutation_p.R82Q|FXYD5_uc002nyj.1_5'Flank	NM_144779	NP_659003	Q96DB9	FXYD5_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 5 (FXYD5), transcript variant 1, mRNA.	145					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTCCGGAAACGGGGGCTGTTG	0.547000														270			72		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12121044	12121044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:12121044C>T	uc003nac.3	+	3	1195	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTAACTTCACCTTCCAGTAGA	0.433000														143			65		0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925457	4925457	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrY:4925457C>T	uc004fqo.3	+	0	1327	c.593C>T	c.(592-594)cCt>cTt	p.P198L	PCDH11Y_uc010nwg.1_Missense_Mutation_p.P187L|PCDH11Y_uc004fql.1_Missense_Mutation_p.P187L|PCDH11Y_uc004fqm.1_Missense_Mutation_p.P187L|PCDH11Y_uc004fqn.1_Missense_Mutation_p.P198L	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	198	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCTGTTGATCCTGACGTAGGC	0.348000														29			42		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841514	100841514	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:100841514C>T	uc003pqj.4	-	9	1886	c.1419G>A	c.(1417-1419)gaG>gaA	p.E473E	SIM1_uc021zdg.1_Silent_p.E473E|SIM1_uc010kcu.3_Silent_p.E473E	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	473	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ACCTGCCTGCCTCACATCGGC	0.642000														73			9		0	0	1	0	0
CPOX	1371	broad.mit.edu	37	3	98312019	98312019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:98312019G>A	uc003dsx.3	-	0	437	c.330C>T	c.(328-330)gcC>gcT	p.A110A	CPOX_uc011bgz.2_Silent_p.A110A	NM_000097	NP_000088	P36551	HEM6_HUMAN	Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA.	110						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCAGCGAAGTGGCCCGCGTCC	0.726000														15			8		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282195	152282195	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152282195C>T	uc001ezu.1	-	2	5203	c.5167G>A	c.(5167-5169)Gag>Aag	p.E1723K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1723	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGTCCCTCGCTGTCACTG	0.597000									Ichthyosis					343			144		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14368958	14368958	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:14368958C>T	uc003jff.3	+	16	3022	c.3016C>T	c.(3016-3018)Cgc>Tgc	p.R1006C	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.R957C|TRIO_uc003jfh.1_Missense_Mutation_p.R655C	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1006					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GATGGAAGATCGCCTCAAGCT	0.532000														98			41		0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167512518	167512518	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:167512518C>T	uc003ffa.4	+	4	985	c.787C>T	c.(787-789)Cct>Tct	p.P263S	SERPINI1_uc003ffb.4_Missense_Mutation_p.P263S	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	263					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						ACAGGAAGTTCCTCTTGCTAC	0.448000														42			23		0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40655966	40655966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40655966C>T	uc001zlk.1	+	1	349	c.260C>T	c.(259-261)cCc>cTc	p.P87L		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	87					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCATCCAGCCCCTTGGCCCCT	0.652000														86			24		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94032040	94032040	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:94032040G>A	uc011cdt.2	+	3	929	c.671G>A	c.(670-672)cGa>cAa	p.R224Q	GRID2_uc010ikx.3_Missense_Mutation_p.R224Q|GRID2_uc011cdu.2_Missense_Mutation_p.R129Q|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	224					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AATCGCTATCGAGACACTCTT	0.408000														93			35		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193650	152193650	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152193650G>A	uc001ezt.1	-	2	531	c.455C>T	c.(454-456)aCt>aTt	p.T152I		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	152					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATGGATTCAGTCCCAGGTTT	0.438000														125			10		0	0	1	0	0
ZNF467	168544	broad.mit.edu	37	7	149468110	149468110	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149468110G>A	uc003wgd.2	-	1	153	c.12C>T	c.(10-12)acC>acT	p.T4T	ZNF467_uc003wgc.3_Silent_p.T4T	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	Homo sapiens zinc finger protein 467 (ZNF467), mRNA.	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCCTCCAAGGTCTCTCTCA	0.542000														91			31		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23906980	23906980	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:23906980G>A	uc001uon.2	-	9	11624	c.11035C>T	c.(11035-11037)Ctt>Ttt	p.L3679F	SACS_uc001uoo.2_Missense_Mutation_p.L3532F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3679					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTTTATAAGAGGAAGTGTT	0.408000														77			28		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174906	51174906	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:51174906G>A	uc021tif.1	-	1	1258	c.936C>T	c.(934-936)atC>atT	p.I312I	SALL1_uc021tid.1_Silent_p.I312I|SALL1_uc021tie.1_Silent_p.I409I|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	409					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAGTTGTTCCGATGTTGGGCA	0.478000														106			37		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621371	65621371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65621371G>A	uc002aos.2	-	13	2573	c.2321C>T	c.(2320-2322)gCt>gTt	p.A774V	IGDCC3_uc002aor.1_Missense_Mutation_p.A60V	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	774										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCGCAGGGAGCCGTGGCCTC	0.711000														13			17		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90212209	90212209	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:90212209G>A	uc010yts.2	+	37		c.4896G>A								Parts of antibodies, mostly variable regions.																		CCTAGAGCCTGAAGATTTTGC	0.502000														72			39		0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17787380	17787380	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:17787380C>T	uc003zna.3	+	4	622	c.334C>T	c.(334-336)Cca>Tca	p.P112S	SH3GL2_uc011lmx.1_Missense_Mutation_p.P77S|SH3GL2_uc011lmy.2_Missense_Mutation_p.P65S	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	112	BAR.|Binds and tubulates liposomes (By similarity).				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TCTCCTAGGCCCAGCACTTGG	0.468000														131			13		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857051	210857051	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:210857051C>T	uc001hib.2	-	10	2712	c.2542G>A	c.(2542-2544)Gag>Aag	p.E848K	KCNH1_uc001hic.2_Missense_Mutation_p.E821K	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	848					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTCCAGTCCTCACTCTTCCCG	0.612000														97			38		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564036	176564037	+	Silent	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176564036_176564037CC>TT	uc001gkz.3	+	2	2460_2461	c.1296_1297CC>TT	c.(1294-1299)gccctg>gcTTtg	p.432_433AL>AL	PAPPA2_uc001gky.1_Silent_p.432_433AL>AL|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	432					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTCGACCGCCCTGCCACAAAG	0.559000														83			29		0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877393	2877393	+	Missense_Mutation	SNP	G	A	A	rs35499960	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:2877393G>A	uc002lwp.1	+	3	524	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	ZNF556_uc002lwq.3_Missense_Mutation_p.R145Q	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	146			R -> L (in dbSNP:rs35499960).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R146R(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		AGTGTAAGACGGTACGAATGC	0.393000														110			37		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113303820	113303820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:113303820G>A	uc003ynu.3	-	55	9052	c.8893C>T	c.(8893-8895)Cct>Tct	p.P2965S	CSMD3_uc003yns.3_Missense_Mutation_p.P2167S|CSMD3_uc003ynt.3_Missense_Mutation_p.P2925S|CSMD3_uc011lhx.2_Missense_Mutation_p.P2796S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2965	Sushi 20.					integral to membrane|plasma membrane		p.P2965S(2)|p.P2965T(2)|p.P2925S(1)		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						AAATATCCAGGATTGCAGTCA	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				91			22		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48117823	48117823	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:48117823C>T	uc002efc.1	-	27	4336	c.3990G>A	c.(3988-3990)ggG>ggA	p.G1330G	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	1330	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCTATACCTTCCCATTTTCCA	0.483000														84			26		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171092543	171092543	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:171092543C>T	uc002ufy.3	+	6	789	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	MYO3B_uc002ufv.3_Missense_Mutation_p.R203C|MYO3B_uc010fqb.1_Missense_Mutation_p.R216C|MYO3B_uc002ufz.3_Missense_Mutation_p.R216C|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Missense_Mutation_p.R203C	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	216	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTATGACGCTCGCTGTGACGT	0.493000											OREG0014376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		110			49		0	0	1	0	0
C2orf62	375307	broad.mit.edu	37	2	219232205	219232205	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219232205G>A	uc002vhr.3	+	8	914	c.885G>A	c.(883-885)gaG>gaA	p.E295E	BC038211_uc002vht.3_Intron	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	Homo sapiens chromosome 2 open reading frame 62 (C2orf62), mRNA.	295										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TATGGGAGGAGGATATGGAGC	0.567000														93			39		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3319755	3319755	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:3319755C>T	uc003ggw.3	+	1	2762	c.1858C>T	c.(1858-1860)Cga>Tga	p.R620*	RGS12_uc003ggu.2_Nonsense_Mutation_p.R620*|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Nonsense_Mutation_p.R620*|RGS12_uc003ggx.1_Nonsense_Mutation_p.R620*	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	620						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCGAAATGTTCGAAAGACTAA	0.582000														117			62		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72960115	72960115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:72960115G>A	uc003pga.3	+	12	2401	c.2324G>A	c.(2323-2325)gGa>gAa	p.G775E	RIMS1_uc011dyb.2_Missense_Mutation_p.G401E|RIMS1_uc003pgc.3_Missense_Mutation_p.G401E|RIMS1_uc010kaq.3_Missense_Mutation_p.G249E|RIMS1_uc011dyc.2_Missense_Mutation_p.G249E|RIMS1_uc010kar.3_Missense_Mutation_p.G168E|RIMS1_uc011dyd.2_Missense_Mutation_p.G234E|RIMS1_uc003pge.3_5'UTR|RIMS1_uc003pgf.3_5'UTR|RIMS1_uc003pgi.3_5'UTR|RIMS1_uc003pgg.3_5'UTR|RIMS1_uc003pgh.3_5'UTR|RIMS1_uc003pgd.3_5'UTR|RIMS1_uc011dye.2_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.G401E|RIMS1_uc010kas.1_Missense_Mutation_p.G234E	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	775	C2 1.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGAGTAGATGGACGTCCTCGA	0.348000														19			9		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167863177	167863177	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167863177G>A	uc001ger.3	-	7	1040	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	ADCY10_uc010plj.2_Missense_Mutation_p.L95F|ADCY10_uc009wvk.3_Missense_Mutation_p.L156F|ADCY10_uc009wvl.3_Missense_Mutation_p.L247F|ADCY10_uc009wvm.2_Non-coding_Transcript	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	248					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGCCTCAGGAGGTCTAAGAAG	0.502000														28			9		0	0	1	0	0
DDX55	57696	broad.mit.edu	37	12	124090660	124090660	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124090660T>A	uc001ufi.3	+	2	224	c.200T>A	c.(199-201)aTc>aAc	p.I67N	DDX55_uc001ufh.3_5'UTR|DDX55_uc001ufj.1_5'UTR|DDX55_uc001ufk.3_5'Flank	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 (DDX55), mRNA.	67	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding	p.P66L(1)|p.I67M(1)|p.P66R(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GTCATCCCCATCCTGGAAATT	0.423000														46			13		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1443182	1443182	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:1443182G>A	uc003boz.3	+	20	3037	c.2770G>A	c.(2770-2772)Gag>Aag	p.E924K	CNTN6_uc011asj.2_Missense_Mutation_p.E852K|CNTN6_uc003bpa.3_Missense_Mutation_p.E924K	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	924	Fibronectin type-III 4.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane		p.E924D(1)		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)		CTTGAACTGGGAGCATGTAAA	0.353000														58			14		0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177190142	177190142	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:177190142G>A	uc003iuq.2	-	0	232	c.118C>T	c.(118-120)Cat>Tat	p.H40Y		NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	40					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATGTAGAAATGACTGAGGATG	0.403000														46			26		0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13935508	13935508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:13935508C>T	uc021zzz.1	-	11	1504	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	ETV1_uc021zzt.1_Missense_Mutation_p.E433K|ETV1_uc021zzu.1_Missense_Mutation_p.E370K|ETV1_uc021zzv.1_Missense_Mutation_p.E415K|ETV1_uc021zzw.1_3'UTR|ETV1_uc021zzx.1_3'UTR|ETV1_uc021zzy.1_3'UTR|ETV1_uc022aaa.1_Missense_Mutation_p.E455K|ETV1_uc022aab.1_3'UTR|ETV1_uc003ssw.4_Missense_Mutation_p.E450K|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_3'UTR|ETV1_uc022aad.1_3'UTR|ETV1_uc021zzs.1_5'Flank	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	473					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E473K(2)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACGTAGCCTTCGTTGTAGGGG	0.478000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""									19			8		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781919	128781919	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:128781919C>T	uc001qet.3	+	1	1065	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S	KCNJ5_uc009zck.3_Missense_Mutation_p.P251S|KCNJ5_uc001qew.3_Missense_Mutation_p.P251S	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	251					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GGAGTTCATCCCCCTGAACCA	0.592000														106			42		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221230	161221230	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:161221230G>A	uc011bpb.2	+	3	934	c.934G>A	c.(934-936)Gac>Aac	p.D312N		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	312	Collagen-like 3.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GCCGAAGGGTGACATTGGCAA	0.582000														23			8		0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5474840	5474840	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5474840G>A	uc010qzf.2	+	0	203	c.122G>A	c.(121-123)gGa>gAa	p.G41E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCCTTGGGGGAAATACAGTG	0.572000														52			28		0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17559460	17559460	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17559460C>T	uc001bah.1	+	10	1400	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	PADI1_uc010oco.1_5'Flank|PADI1_uc010ocp.1_5'Flank|PADI1_uc010ocq.1_5'Flank	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	436					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGAGCAGCTTCCCCAAGTGAG	0.657000														11			9		0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39883840	39883840	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:39883840G>A	uc003opb.3	-	2	693	c.555C>T	c.(553-555)gcC>gcT	p.A185A	MOCS1_uc003opa.3_Silent_p.A185A|MOCS1_uc003opd.3_Silent_p.A185A|MOCS1_uc003ope.3_Silent_p.A98A	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	185	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACTCAAACTTGGCAGGCACCA	0.597000														15			4		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70635117	70635117	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70635117G>A	uc001xly.3	-	1	777	c.23C>T	c.(22-24)cCt>cTt	p.P8L	SLC8A3_uc001xlw.3_Missense_Mutation_p.P8L|SLC8A3_uc001xlx.3_Missense_Mutation_p.P8L|SLC8A3_uc001xlz.3_Missense_Mutation_p.P8L|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	8					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGAGGTGAGAGGCTGCAACCT	0.537000														31			14		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68641181	68641181	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:68641181G>A	uc010bib.3	-	9	1205	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L	ITGA11_uc002ari.3_Missense_Mutation_p.S373L	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	373					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CACCACGTGCGAGGAAAAGCC	0.567000														15			6		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907882	12907882	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12907882C>T	uc010obf.2	-	1	487	c.261G>A	c.(259-261)gaG>gaA	p.E87E	LOC649330_uc009vno.2_Silent_p.E87E	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	87							nucleic acid binding|nucleotide binding										TCACTTTTGGCTCTGCAGCCA	0.478000														267			26		0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	397183	397183	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:397183G>A	uc021qbk.1	+	3	756	c.727G>A	c.(727-729)Ggg>Agg	p.G243R	PKP3_uc001lpc.3_Missense_Mutation_p.G228R	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	228					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGGGCAGGGGGGCTGGACTG	0.711000														31			21		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99514879	99514879	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:99514879G>A	uc003dti.1	+	2	2265	c.2137G>A	c.(2137-2139)Gac>Aac	p.D713N	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.D712N|COL8A1_uc003dth.1_Missense_Mutation_p.D712N	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	712	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII		p.R713W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CAGGCCCGGAGACCGGGTGTT	0.537000														42			20		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26242168	26242168	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26242168G>A	uc003abz.1	+	18	3720	c.3470G>A	c.(3469-3471)aGc>aAc	p.S1157N	MYO18B_uc003aca.1_Missense_Mutation_p.S1038N|MYO18B_uc010guy.1_Missense_Mutation_p.S1039N|MYO18B_uc010guz.1_Missense_Mutation_p.S1038N|MYO18B_uc011aka.1_Missense_Mutation_p.S311N|MYO18B_uc011akb.1_Missense_Mutation_p.S670N	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1157	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						CTGCAGAGGAGCCGCATGGTG	0.672000														32			12		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125148925	125148925	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125148925G>A	uc004bmg.1	+	8	1345	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	PTGS1_uc011lys.1_Intron|PTGS1_uc010mwb.1_Intron|PTGS1_uc004bmf.1_Intron|PTGS1_uc004bmh.1_Missense_Mutation_p.E295K|PTGS1_uc011lyt.1_Missense_Mutation_p.E295K	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	404					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.E404K(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	GTACAGCTACGAGCAGTTCTT	0.577000														106			26		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36869813	36869813	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36869813G>A	uc003cgj.3	-	22	8979	c.8731C>T	c.(8731-8733)Cgg>Tgg	p.R2911W		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2911					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTCTAGGCCGAAGCTCACCA	0.443000														20			10		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17353332	17353332	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:17353332C>T	uc002dfa.3	-	2	511	c.426G>A	c.(424-426)ccG>ccA	p.P142P		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	142					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTTTCTCTTTCGGCCGATGAG	0.478000														81			23		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47605684	47605684	+	Splice_Site	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47605684T>G	uc003gxm.3	-	20	2634	c.2541_splice	c.e20-1	p.G847_splice	CORIN_uc011bzf.2_Splice_Site_p.G708_splice|CORIN_uc011bzg.2_Splice_Site_p.G780_splice	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	847	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GCATTCTCTCTCCTAAAATTA	0.353000														41			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187260	140187261	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140187260_140187261GG>AA	uc003lhi.2	+	0	589_590	c.488_489GG>AA	c.(487-489)ggg>gAA	p.G163E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.G163E|PCDHAC2_uc011daa.2_Missense_Mutation_p.G163E	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	178	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G163V(2)		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)			GCAGATATCGGGGAGAACGCCC	0.525000														88			31		0	0	1	0	0
GHITM	27069	broad.mit.edu	37	10	85904638	85904638	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:85904638C>T	uc001kcs.1	+	4	553	c.349C>T	c.(349-351)Cct>Tct	p.P117S	GHITM_uc010qma.1_Intron|GHITM_uc010qmb.1_Missense_Mutation_p.P47S	NM_014394	NP_055209	Q9H3K2	GHITM_HUMAN	Homo sapiens growth hormone inducible transmembrane protein (GHITM), mRNA.	117					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CAGAATTTGGCCTCAGTATGT	0.398000														85			10		0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151263	158151263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158151263C>T	uc001frr.3	+	2	579	c.80C>T	c.(79-81)cCc>cTc	p.P27L	CD1D_uc009wsr.1_Missense_Mutation_p.P27L|CD1D_uc009wss.3_Missense_Mutation_p.P27L|CD1D_uc009wst.1_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	27					T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGGCTTTTCCCCCTCCGCTGC	0.592000														368			141		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553899	140553899	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140553899G>A	uc003lit.3	+	0	1657	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	495	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGTCCCAGGACCCGCACCT	0.662000														162			49		0	0	1	0	0
TAOK1	57551	broad.mit.edu	37	17	27857437	27857437	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:27857437C>T	uc002hdz.2	+	17	2355	c.2161C>T	c.(2161-2163)Caa>Taa	p.Q721*	TAOK1_uc010wbe.2_Nonsense_Mutation_p.Q573*	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	721					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TAAAGAACTCCAAATAAAAAA	0.353000														13			12		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075750	145075750	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:145075750C>T	uc001elo.3	-	0	437	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001emh.3_Missense_Mutation_p.R38Q|PDE4DIP_uc001emk.3_Non-coding_Transcript	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 3, mRNA.	712					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)		CTGAGGGGTTCGCGTCGCGTC	0.731000			T	PDGFRB	MPD									102			17		0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6245348	6245348	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6245348G>A	uc001mck.4	-	2	628	c.269C>T	c.(268-270)cCc>cTc	p.P90L	FAM160A2_uc001mcl.4_Missense_Mutation_p.P90L|FAM160A2_uc001mcm.2_Missense_Mutation_p.P90L	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	90					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGGCCTGTGGGGGCCGAGGG	0.627000														31			13		0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82644788	82644788	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:82644788G>A	uc001ozt.3	+	5	2652	c.2408G>A	c.(2407-2409)gGt>gAt	p.G803D	C11orf82_uc010rsr.2_Missense_Mutation_p.G502D|C11orf82_uc010rss.2_Missense_Mutation_p.G502D|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	803					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GATCTTGATGGTAACTATGAA	0.368000														39			18		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32233121	32233121	+	Silent	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:32233121T>G	uc011alu.2	+	25	2536	c.2334T>G	c.(2332-2334)ctT>ctG	p.L778L	DEPDC5_uc011als.2_Silent_p.L700L|DEPDC5_uc003als.3_Silent_p.L769L|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.L769L|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Silent_p.L218L|DEPDC5_uc011alw.1_Silent_p.L99L|DEPDC5_uc003alw.3_Silent_p.L67L|DEPDC5_uc011alx.2_5'UTR	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	769					intracellular signal transduction			p.D778D(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATGATCTCCTTCCAGAAGCAG	0.532000														88			8		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5235148	5235148	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:5235148C>T	uc003jdl.3	+	12	2010	c.1872C>T	c.(1870-1872)ttC>ttT	p.F624F	ADAMTS16_uc003jdk.1_Silent_p.F624F|ADAMTS16_uc010itk.1_Non-coding_Transcript	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	624	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAGGGAAGTTCTGTGAGGGCT	0.448000														62			25		0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179745905	179745905	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:179745905G>A	uc003mlw.1	-	9	944	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	282	Glutamine amidotransferase type-2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCACTGCGGCGATGTCATCGT	0.582000														32			19		0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921783	78921784	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:78921783_78921784GG>AA	uc002bed.1	-	4	975_976	c.863_864CC>TT	c.(862-864)acc>aTT	p.T288I	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.T106I	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	288					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CATCGAGGGAGGTGGGTGGCAC	0.564000														74			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595335	179595335	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179595335G>A	uc021vsy.1	-	57	14418	c.14193C>T	c.(14191-14193)ttC>ttT	p.F4731F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F1392F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5658	Ig-like 27.						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)			TGATTTCCAAGAAGGCAGTAT	0.453000														114			24		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39057574	39057574	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39057574C>T	uc002oit.3	+	91	13591	c.13461C>T	c.(13459-13461)ctC>ctT	p.L4487L	RYR1_uc002oiu.3_Silent_p.L4482L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4487	Pro-rich.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGAGGAGCTCCCGCCAGAGC	0.652000														13			4		0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59830030	59830030	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59830030C>T	uc001nom.3	+	2	374	c.246C>T	c.(244-246)ttC>ttT	p.F82F	MS4A3_uc001non.3_Intron|MS4A3_uc001noo.3_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	82	Poly-Phe.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				AAAAGCACTTCTTTTTCTTCA	0.453000														116			53		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72299495	72299495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72299495G>A	uc001jrd.4	+	14	2166	c.1885G>A	c.(1885-1887)Gac>Aac	p.D629N	KIAA1274_uc001jre.4_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	629										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						CCCCATGCCGGACTTCTGTGC	0.662000														66			23		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52556489	52556489	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:52556489G>A	uc010bff.3	-	8	1107	c.945C>T	c.(943-945)ttC>ttT	p.F315F	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_Missense_Mutation_p.S215L	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	315	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AATCCTCCTTGAAACCTAAAA	0.443000														31			11		0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99338587	99338587	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:99338587C>T	uc003htw.4	+	8	1170	c.980C>T	c.(979-981)cCa>cTa	p.P327L	RAP1GDS1_uc003htx.4_Missense_Mutation_p.P326L|RAP1GDS1_uc003htv.4_Missense_Mutation_p.P327L|RAP1GDS1_uc003htz.4_Missense_Mutation_p.P277L|RAP1GDS1_uc003hty.4_Missense_Mutation_p.P278L|RAP1GDS1_uc003hua.4_Missense_Mutation_p.P235L	NM_001100426	NP_001093896	P52306	GDS1_HUMAN	Homo sapiens RAP1, GTP-GDP dissociation stimulator 1 (RAP1GDS1), transcript variant 1, mRNA.	326							GTPase activator activity|binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TCTTGGATCCCATCAAATAAC	0.388000			T	NUP98	T-ALL									51			20		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26718782	26718782	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:26718782G>A	uc001mra.2	-	7	1282	c.969C>T	c.(967-969)gtC>gtT	p.V323V	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Silent_p.V323V	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	323					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ATATCTCCATGACAAAGTACG	0.378000														81			40		0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27505662	27505662	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27505662G>A	uc002rjo.3	+	0	366	c.63G>A	c.(61-63)gaG>gaA	p.E21E	TRIM54_uc002rjn.3_Silent_p.E21E	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	21					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAACCTGGAGAAGCAGCTCA	0.592000														196			74		0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231264925	231264925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:231264925G>A	uc010fxm.1	+	14	1372	c.1281G>A	c.(1279-1281)gaG>gaA	p.E427E	SP140L_uc010fxo.1_Silent_p.E199E	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	427						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TCTTCCATGAGGACTGCCACA	0.512000														66			25		0	0	1	0	0
LOC200726	200726	broad.mit.edu	37	2	207509150	207509150	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:207509150C>T	uc010fuh.1	+	1	365	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C		NM_001102659	NP_001096129			Homo sapiens hCG1657980 (LOC200726), mRNA.																LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)		GTGGAAACCTCGCGTTTCCAA	0.488000														35			5		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21690081	21690081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21690081G>A	uc001rfb.3	-	15	2174	c.1919C>T	c.(1918-1920)tCc>tTc	p.S640F		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	640					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGGTACTGAGGAAGGCCTGGG	0.443000														41			15		0	0	1	0	0
C1orf111	284680	broad.mit.edu	37	1	162344300	162344300	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:162344300C>T	uc001gbx.2	-	2	388	c.324G>A	c.(322-324)gaG>gaA	p.E108E		NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	Homo sapiens chromosome 1 open reading frame 111 (C1orf111), mRNA.	108								p.E108K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			CCAGCTGGCTCTCTTTGTCTG	0.572000														178			64		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239910	5239910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:5239910G>A	uc003jdl.3	+	15	2533	c.2395G>A	c.(2395-2397)Ggg>Agg	p.G799R	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G799R	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	799	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTACCTGAATGGGCACTGGAC	0.522000														107			33		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36218811	36218811	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36218811C>T	uc021usv.1	+	17	4422	c.4422C>T	c.(4420-4422)atC>atT	p.I1474I	MLL2_uc021usu.1_Silent_p.I288I	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	0	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGGTGGGCATCCTCATGCGGC	0.627000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				13			8		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198948911	198948911	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:198948911C>T	uc010fsp.3	+	1	1068	c.670C>T	c.(670-672)Cga>Tga	p.R224*	PLCL1_uc002uuv.4_Nonsense_Mutation_p.R145*	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	224					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCTGGTTTCTCGAAGTAAGCA	0.478000														85			33		0	0	1	0	0
DL492607	0	broad.mit.edu	37	11	113661321	113661321	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113661321C>T	uc001pof.1	+	0		c.1369C>T								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		TGAAGGAGTTCGTCTTTGATG	0.493000														69			63		0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596707	142596707	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:142596707G>A	uc004fbw.3	-	1	451	c.363C>T	c.(361-363)tcC>tcT	p.S121S		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	121										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCTGTGAGGATCCTTCAG	0.458000														43			69		0	0	1	0	0
WFDC5	149708	broad.mit.edu	37	20	43739057	43739057	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43739057G>A	uc002xne.2	-	2	440	c.351C>T	c.(349-351)tgC>tgT	p.C117C		NM_145652	NP_663627	Q8TCV5	WFDC5_HUMAN	Homo sapiens WAP four-disulfide core domain 5 (WFDC5), mRNA.	117	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CAGGATCCCGGCAATCCCGCC	0.607000														19			6		0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27553473	27553473	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:27553473G>A	uc001rht.2	+	9	1145	c.926G>A	c.(925-927)aGa>aAa	p.R309K	ARNTL2_uc001rhu.2_Missense_Mutation_p.R295K|ARNTL2_uc001rhv.2_Missense_Mutation_p.R261K|ARNTL2_uc001rhw.3_Missense_Mutation_p.R272K|ARNTL2_uc010sjp.2_Missense_Mutation_p.R272K|ARNTL2_uc009zji.2_Missense_Mutation_p.R275K|BC043511_uc001rhx.3_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	309					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TTAGAGCACAGAAAATTCTAT	0.294000														58			26		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41153949	41153949	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41153949C>T	uc003jmk.2	-	14	2463	c.2253G>A	c.(2251-2253)tgG>tgA	p.W751*	C6_uc003jml.1_Nonsense_Mutation_p.W751*	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	751	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				TGGGTGGTGTCCAGGAATTCC	0.473000														64			9		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51893112	51893112	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:51893112C>T	uc003pah.1	-	29	3678	c.3402G>A	c.(3400-3402)atG>atA	p.M1134I	PKHD1_uc003pai.3_Missense_Mutation_p.M1134I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1134	IPT/TIG 6; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCGTATAGTTCATCAGCCTCG	0.562000														86			25		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307140	140307140	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140307140C>T	uc003lih.2	+	0	839	c.663C>T	c.(661-663)atC>atT	p.I221I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.I221I	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	245	Cadherin 2.				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)			AAGTCACCATCATTGTGGTGG	0.582000														47			12		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771993	143771993	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143771993C>T	uc011ktx.2	+	0	681	c.681C>T	c.(679-681)atC>atT	p.I227I		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TTCTAAAGATCCAGTCAGGAG	0.478000														117			27		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10435015	10435015	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10435015C>T	uc010coi.3	-	21	2760	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E878K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	878					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E878G(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTTCCAGTTCCTTCCTTTTT	0.423000														41			38		0	0	1	0	0
GPT2	84706	broad.mit.edu	37	16	46931640	46931640	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:46931640C>T	uc002eel.3	+	2	418	c.324C>T	c.(322-324)ttC>ttT	p.F108F	GPT2_uc002eem.3_Silent_p.F8F	NM_133443	NP_001135938	Q8TD30	ALAT2_HUMAN	Homo sapiens glutamic pyruvate transaminase (alanine aminotransferase) 2 (GPT2), transcript variant 1, mRNA.	108					2-oxoglutarate metabolic process|L-alanine metabolic process|cellular amino acid biosynthetic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAATCACCTTCCTCCGGCAGG	0.657000														59			17		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31538324	31538324	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:31538324C>T	uc010dmi.3	-	6	1413	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	NOL4_uc010xbs.2_Missense_Mutation_p.G87E|NOL4_uc002kxr.4_Missense_Mutation_p.G208E|NOL4_uc010xbt.2_Missense_Mutation_p.G298E|NOL4_uc010dmh.3_Missense_Mutation_p.G298E|NOL4_uc010xbu.2_Missense_Mutation_p.G372E|NOL4_uc002kxt.4_Missense_Mutation_p.G372E|NOL4_uc010xbv.1_Missense_Mutation_p.G121E	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	372						nucleolus	RNA binding	p.G372A(2)		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						GTCCTCAGCTCCTCGGTCTAC	0.463000														204			34		0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123664559	123664559	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:123664559C>T	uc021xrm.1	+	2	1893	c.1512C>T	c.(1510-1512)ctC>ctT	p.L504L	BBS12_uc003ieu.3_Silent_p.L504L|BBS12_uc021xrn.1_Silent_p.L504L	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	504					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CGGCCGTGCTCACTAACCCAG	0.408000									Bardet-Biedl syndrome					97			31		0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55417934	55417934	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55417934G>A	uc002qib.2	+	2	162	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	NCR1_uc002qic.2_Missense_Mutation_p.E42K|NCR1_uc002qie.2_Missense_Mutation_p.E42K|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	42	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GGTTCCAAAGGAAAAGCAAGT	0.547000														91			44		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107732807	107732807	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107732807C>T	uc010ljo.1	-	12	1609	c.1525G>A	c.(1525-1527)Gat>Aat	p.D509N	LAMB4_uc003vey.2_Missense_Mutation_p.D509N	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	509	Laminin EGF-like 5; truncated.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCTCCAATATCACAGTCACAG	0.383000														58			24		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63005497	63005497	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:63005497G>A	uc001daq.3	-	25	3146	c.3112C>T	c.(3112-3114)Cca>Tca	p.P1038S	DOCK7_uc001dan.3_Missense_Mutation_p.P899S|DOCK7_uc001dao.3_Missense_Mutation_p.P899S|DOCK7_uc001dap.3_Missense_Mutation_p.P1007S|DOCK7_uc001dam.3_Missense_Mutation_p.P218S	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1038					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AAACGTTCTGGAAAACGACTT	0.348000														45			25		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247039	164247039	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:164247039G>A	uc003iqm.2	-	1	1133	c.668C>T	c.(667-669)cCa>cTa	p.P223L	NPY1R_uc021xtv.1_Missense_Mutation_p.P223L|NPY1R_uc011cjj.2_5'UTR	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	223					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAAACAAAGTGGACCAAAATA	0.353000														34			7		0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36784456	36784456	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36784456G>A	uc002xhr.3	-	2	326	c.226C>T	c.(226-228)Cgt>Tgt	p.R76C	TGM2_uc010zvx.2_Intron|TGM2_uc010zvy.2_Missense_Mutation_p.R16C|TGM2_uc002xhs.1_Intron|TGM2_uc002xht.3_Missense_Mutation_p.R76C|TGM2_uc002xhu.3_Missense_Mutation_p.R76C	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	76			R -> H (in dbSNP:rs41274720).		apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AGTGGAAAACGGGCCTTGGTC	0.657000														21			5		0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124412747	124412747	+	Silent	SNP	C	T	T	rs61745404	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124412747C>T	uc010sam.2	-	0	804	c.804G>A	c.(802-804)gaG>gaA	p.E268E		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L267L(1)		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)		CTTTCCCTTGCTCGAGGGGCA	0.438000														73			24		0	0	1	0	0
DDI2	84301	broad.mit.edu	37	1	15978206	15978206	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:15978206C>T	uc001awx.2	+	7	1212	c.999C>T	c.(997-999)tcC>tcT	p.S333S	RSC1A1_uc009voj.2_5'UTR	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.	333					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CCAAGTGTTCCATCGACCTGA	0.448000														52			16		0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51160458	51160458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:51160458C>T	uc003bne.1	+	21	4245	c.4245C>T	c.(4243-4245)ttC>ttT	p.F1415F	SHANK3_uc003bnf.1_Silent_p.F862F	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1415										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		ACACCTCCTTCGCTGACGGAC	0.632000														11			13		0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148801858	148801858	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:148801858G>A	uc003wfj.3	-	3	1238	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	369					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCAGCCTTCCGGGAGAAGCTC	0.577000														102			32		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72431580	72431580	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:72431580C>T	uc001xna.4	+	1	595	c.72C>T	c.(70-72)atC>atT	p.I24I	RGS6_uc021rvv.1_Intron|RGS6_uc010ttn.2_Silent_p.I24I|RGS6_uc021rvw.1_Silent_p.I24I|RGS6_uc021rvx.1_Silent_p.I24I|RGS6_uc021rvy.1_Silent_p.I24I|RGS6_uc021rvz.1_Silent_p.I24I|RGS6_uc001xmy.4_Silent_p.I24I|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Silent_p.I24I|RGS6_uc021rwa.1_Silent_p.I24I|RGS6_uc021rwb.1_Silent_p.I24I	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	24					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAAACATGATCGTTTACTGCA	0.502000														64			23		0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106824192	106824192	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:106824192C>T	uc001tlp.3	+	13	1627	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	POLR3B_uc001tlq.3_Missense_Mutation_p.R411C	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	469					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GAGTGGTCCTCGCTCCCTCCA	0.493000														107			22		0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53286957	53286957	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:53286957C>T	uc001vhf.2	-	4	627	c.516G>A	c.(514-516)tgG>tgA	p.W172*	LECT1_uc001vhg.2_Nonsense_Mutation_p.W172*|LECT1_uc001vhh.2_Nonsense_Mutation_p.W161*	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	172	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CTACAGCCACCCAGATAAGAG	0.408000														78			31		0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59911343	59911343	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:59911343C>T	uc002age.3	+	2	1355	c.906C>T	c.(904-906)tcC>tcT	p.S302S	GCNT3_uc002agd.3_Silent_p.S302S|GCNT3_uc021smz.1_Silent_p.S302S	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	302					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGTGGCTTCCCGAGATTTCG	0.433000														167			70		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71538258	71538258	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:71538258G>A	uc004agu.3	+	11	1462	c.1157G>A	c.(1156-1158)aGa>aAa	p.R386K	PIP5K1B_uc011lrq.2_Missense_Mutation_p.R386K|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	386	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TATGCAGACAGATTTCTTAAG	0.328000														71			17		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142655514	142655514	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142655514C>T	uc003wcb.3	-	5	611	c.401_splice	c.e5-1	p.E134_splice		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	134					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AATTCTGGACCTCTAGAAAGG	0.488000														39			12		0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55168827	55168827	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:55168827C>T	uc001xbb.3	+	1	549	c.241C>T	c.(241-243)Ctc>Ttc	p.L81F	SAMD4A_uc001xba.3_Missense_Mutation_p.L82F|SAMD4A_uc001xbc.3_Missense_Mutation_p.L82F|SAMD4A_uc001xbf.2_Non-coding_Transcript|SAMD4A_uc001xbe.3_5'UTR	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	82					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						AGTGATTTCCCTCCTGTTAAC	0.423000														65			15		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551337	99551337	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:99551337G>A	uc010nmz.3	-	5	5061	c.3385C>T	c.(3385-3387)Ctg>Ttg	p.L1129L	PCDH19_uc004efw.4_Silent_p.L1081L|PCDH19_uc004efx.4_Silent_p.L1082L	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	1129					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L1129L(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCTTCCTTCAGAATGGGGCTG	0.512000														50			60		0	0	1	0	0
POMGNT1	55624	broad.mit.edu	37	1	46659974	46659974	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:46659974G>A	uc001cpg.3	-	8	1502	c.851C>T	c.(850-852)cCc>cTc	p.P284L	POMGNT1_uc010olx.2_Missense_Mutation_p.P262L|POMGNT1_uc010oly.2_Non-coding_Transcript|POMGNT1_uc010olz.2_Missense_Mutation_p.P141L|POMGNT1_uc001cpe.3_Missense_Mutation_p.P284L|POMGNT1_uc001cpf.3_5'UTR|POMGNT1_uc001cph.1_5'Flank|POMGNT1_uc001cpi.1_5'Flank	NM_001243766	NP_001230695	Q8WZA1	PMGT1_HUMAN	Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA.	284					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GATGGGTGTGGGGTCCTTGCA	0.602000														60			21		0	0	1	0	0
FAM75A3	727830	broad.mit.edu	37	9	40702682	40702682	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:40702682C>T	uc010mmj.3	+	3	368	c.339C>T	c.(337-339)gaC>gaT	p.D113D		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	113						integral to membrane				kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACAAAGGTGACTTTGGTCAGC	0.647000														32			13		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276773	152276773	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152276773C>T	uc001ezu.1	-	2	10625	c.10589G>A	c.(10588-10590)aGg>aAg	p.R3530K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3530	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCTTGTCCTGGGCCCCGC	0.577000									Ichthyosis					279			108		0	0	1	0	0
NAP1L3	4675	broad.mit.edu	37	X	92928218	92928218	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:92928218G>A	uc004efq.3	-	0	465	c.86C>T	c.(85-87)tCt>tTt	p.S29F	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	29	Ser-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TTCTTCCCCAGAATCACTAGT	0.557000														21			19		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71762184	71762184	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71762184C>T	uc010fen.3	+	14	1555	c.1414C>T	c.(1414-1416)Cct>Tct	p.P472S	DYSF_uc010fei.3_Missense_Mutation_p.P471S|DYSF_uc010feh.3_Missense_Mutation_p.P440S|DYSF_uc002sig.4_Missense_Mutation_p.P440S|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P471S|DYSF_uc010fee.3_Missense_Mutation_p.P440S|DYSF_uc010fef.3_Missense_Mutation_p.P471S|DYSF_uc002sie.3_Missense_Mutation_p.P440S|DYSF_uc010feo.3_Missense_Mutation_p.P472S|DYSF_uc010fej.3_Missense_Mutation_p.P441S|DYSF_uc010fel.3_Missense_Mutation_p.P441S|DYSF_uc010fem.3_Missense_Mutation_p.P441S|DYSF_uc002sif.3_Missense_Mutation_p.P441S|DYSF_uc010fek.3_Missense_Mutation_p.P472S	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	440	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GACGGCCAACCCTCAGTGGAA	0.627000														62			15		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107211030	107211030	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:107211030C>T	uc021ser.1	-	15		c.1344G>A								Parts of antibodies, mostly variable regions.																		GTGAACCTGCCTTTCACCGAC	0.527000														123			40		0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54184166	54184166	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:54184166G>A	uc004dsz.4	-	2	1068	c.985C>T	c.(985-987)Cac>Tac	p.H329Y	FAM120C_uc011moh.2_Missense_Mutation_p.H329Y	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	329										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						AGGCTCCAGTGAAAAGCAGCC	0.423000														9			10		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220348929	220348929	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220348929C>T	uc010fwg.3	+	29	6744	c.6744C>T	c.(6742-6744)atC>atT	p.I2248I		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2248	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ATGCTCAGATCATTCAGTCCC	0.687000														47			32		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120795706	120795706	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:120795706G>A	uc001ldu.3	-	21	4140	c.3994C>T	c.(3994-3996)Ccc>Tcc	p.P1332S	EIF3A_uc010qsu.2_Missense_Mutation_p.P1298S	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1332					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGAGCTGGGGGAGGAACTCGA	0.463000														100			20		0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13206217	13206217	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:13206217C>T	uc003nah.2	+	7	1208	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L	PHACTR1_uc011dir.2_Silent_p.L348L|PHACTR1_uc010jpc.3_Silent_p.L279L|PHACTR1_uc003nag.2_Silent_p.L279L	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	279						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CCACACTGTCCTGCCCTCCCA	0.662000														57			29		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54554948	54554948	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:54554948C>T	uc002iun.1	+	14	1917	c.1882C>T	c.(1882-1884)Ctt>Ttt	p.L628F		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	628										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AATCAAAGTTCTTGTTACCCA	0.393000														116			49		0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67183865	67183865	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:67183865G>A	uc010dfa.1	-	19	3166	c.2287C>T	c.(2287-2289)Cgc>Tgc	p.R763C	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.R364C	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	763					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTTAAGAAGCGAAGTGTTGCC	0.383000														85			33		0	0	1	0	0
C6orf170	221322	broad.mit.edu	37	6	121577399	121577399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:121577399G>A	uc003pyo.1	-	15	1834	c.1766C>T	c.(1765-1767)tCg>tTg	p.S589L	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc003pyp.1_Missense_Mutation_p.S108L	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	589					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	p.S589S(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		AAGTTTTTTCGAAAACTGGGC	0.338000														22			12		0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182755102	182755102	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:182755102G>A	uc003fle.3	-	12	1635	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	MCCC1_uc010hxi.3_Intron|MCCC1_uc011bqo.2_Non-coding_Transcript|MCCC1_uc003flf.3_Missense_Mutation_p.R383W|MCCC1_uc003flg.3_Missense_Mutation_p.R391W|MCCC1_uc011bqp.1_Missense_Mutation_p.R453W	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	500					biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	p.S499G(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GCAGCCTTCCGACTGAGCAAC	0.507000														80			6		0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165533037	165533037	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:165533037C>T	uc001gde.2	+	1	974	c.918C>T	c.(916-918)gtC>gtT	p.V306V	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	306						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CGAGCTCGGTCCAGGAGTTCC	0.567000														93			37		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24447200	24447200	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:24447200C>T	uc003ned.1	-	17	1797	c.1686G>A	c.(1684-1686)ctG>ctA	p.L562L		NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	562						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CCTCCACGTTCAGTTTTTCTA	0.453000														72			24		0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37707063	37707063	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37707063C>T	uc003arf.3	+	9	959	c.843C>T	c.(841-843)ttC>ttT	p.F281F	CYTH4_uc011amw.2_Silent_p.F224F	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	281	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GGCGCTGGTTCATCCTGACCG	0.627000														126			58		0	0	1	0	0
AGBL4	84871	broad.mit.edu	37	1	49052746	49052746	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:49052746G>A	uc010omx.1	-	10	1391	c.1233C>T	c.(1231-1233)acC>acT	p.T411T	AGBL4_uc001cru.2_Silent_p.T399T|AGBL4_uc010omw.1_Silent_p.T132T|AGBL4_uc010omy.1_Silent_p.T222T|AGBL4_uc001crv.1_Silent_p.T252T	NM_032785	NP_116174	Q5VU57	CBPC6_HUMAN	Homo sapiens ATP/GTP binding protein-like 4 (AGBL4), mRNA.	399					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		AGACCTCTAGGGTGTAGCAAT	0.562000														2			4		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333073	70333073	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70333073C>T	uc001oqc.3	-	20	3239	c.3127G>A	c.(3127-3129)Gat>Aat	p.D1043N	SHANK2_uc010rqn.2_Missense_Mutation_p.D519N|SHANK2_uc001opz.3_Missense_Mutation_p.D514N|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	730					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACATCCTCATCCCCCAGGTCT	0.697000														37			15		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58206895	58206895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:58206895C>T	uc001vhq.1	+	0	1107	c.215C>T	c.(214-216)cCg>cTg	p.P72L	PCDH17_uc010aec.1_Missense_Mutation_p.P72L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	72	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AACTCCGCACCGCACCTGCTG	0.687000														28			12		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672818	141672818	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141672818C>T	uc003vwx.1	-	0	756	c.672G>A	c.(670-672)atG>atA	p.M224I		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	224					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TCATTGTCCTCATGTGCCTTC	0.468000														62			24		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33133532	33133532	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33133532G>A	uc003ocx.1	-	62	4772	c.4544C>T	c.(4543-4545)tCg>tTg	p.S1515L	COL11A2_uc010jul.1_Missense_Mutation_p.S85L|COL11A2_uc003ocy.1_Missense_Mutation_p.S1429L|COL11A2_uc003ocz.1_Missense_Mutation_p.S1408L	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1515					cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCCATCCACCGAGCGCCGAGT	0.637000														83			35		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718682	25718682	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:25718682G>A	uc003xes.2	-	12	1490	c.1225C>T	c.(1225-1227)Ccc>Tcc	p.P409S	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	409					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGCTGGCTGGGATTCCTGGGG	0.527000														90			39		0	0	1	0	0
GRAMD2	196996	broad.mit.edu	37	15	72458995	72458995	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72458995C>T	uc002atq.3	-	6	545	c.521G>A	c.(520-522)aGg>aAg	p.R174K	GRAMD2_uc010bis.2_Missense_Mutation_p.R174K|GRAMD2_uc010ukh.2_5'Flank	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	174						integral to membrane		p.R174G(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						GCAGACTCTCCTCAGCAGGTC	0.552000														99			13		0	0	1	0	0
OBP2A	29991	broad.mit.edu	37	9	138440520	138440520	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:138440520C>T	uc004cgc.3	+	4	462	c.420C>T	c.(418-420)tcC>tcT	p.S140S	OBP2A_uc004cgb.3_Intron|OBP2A_uc010nau.3_Non-coding_Transcript|OBP2A_uc010nav.3_Missense_Mutation_p.P96S			Q9NY56	OBP2A_HUMAN	Homo sapiens odorant binding protein 2A (OBP2A), mRNA.	0					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		TGCCGCTGTCCCCACCTTGGC	0.597000														27			4		0	0	1	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103601679	103601679	+	Silent	SNP	C	T	T	rs146608837	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:103601679C>T	uc001ymm.1	+	10	2078	c.1947C>T	c.(1945-1947)tcC>tcT	p.S649S	TNFAIP2_uc010awo.1_Silent_p.S309S|TNFAIP2_uc010txz.1_Silent_p.S318S|TNFAIP2_uc010tya.1_Silent_p.S132S	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	649					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CCCTATTTTCCCTTATAAAGG	0.597000														215			97		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642586	156642586	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156642586G>A	uc001fpq.3	-	3	1527	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	465	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGTGCCAAGGAGGCATGGTC	0.627000														104			44		0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57672040	57672040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57672040C>T	uc002qoa.1	-	1	196	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	51						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		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;0.0123)		GTATTGATTTCTAAAGCAAGT	0.393000														100			28		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76521136	76521136	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76521136G>A	uc010dhp.2	-	24	3944	c.3819C>T	c.(3817-3819)caC>caT	p.H1273H		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGACCTCCCGGTGGCAGGCCT	0.657000														55			14		0	0	1	0	0
FABP3	2170	broad.mit.edu	37	1	31840289	31840289	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:31840289C>T	uc001bss.1	-	2	361	c.299G>A	c.(298-300)gGg>gAg	p.G100E		NM_004102	NP_004093	P05413	FABPH_HUMAN	Homo sapiens fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) (FABP3), mRNA.	100					negative regulation of cell proliferation					large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		GGTCTCTTGCCCGTCCCATTT	0.473000														193			81		0	0	1	0	0
RBM11	54033	broad.mit.edu	37	21	15599286	15599286	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:15599286C>T	uc002yjo.4	+	4	560	c.518C>T	c.(517-519)tCa>tTa	p.S173L	RBM11_uc002yjn.4_Missense_Mutation_p.S59L|RBM11_uc002yjp.4_Missense_Mutation_p.S59L	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	173							RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		GTGTCTTCCTCACTGAATCAT	0.453000														269			33		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70840074	70840074	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:70840074G>A	uc003pfc.1	+	18	1459	c.1342_splice	c.e18-1	p.G448_splice	COL19A1_uc010kam.2_Splice_Site_p.G344_splice	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	448	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCACCCCTAGGGAAATGATGA	0.368000														28			13		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389456	4389456	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4389456C>T	uc010qye.2	-	0	161	c.70G>A	c.(70-72)Gac>Aac	p.D24N		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTGCTGGTCCTGTAGGCCA	0.517000														22			19		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62329940	62329940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62329940G>A	uc001dab.3	+	19	2584	c.2470G>A	c.(2470-2472)Gaa>Aaa	p.E824K	INADL_uc009waf.1_Missense_Mutation_p.E824K|INADL_uc001daa.2_Missense_Mutation_p.E824K|INADL_uc001dad.3_Missense_Mutation_p.E521K|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	824					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTTTAAAGAAGAACTTGTGGA	0.373000														75			15		0	0	1	0	0
PROP1	5626	broad.mit.edu	37	5	177419863	177419863	+	Silent	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:177419863A>T	uc003mif.1	-	2	837	c.528T>A	c.(526-528)ccT>ccA	p.P176P		NM_006261	NP_006252	O75360	PROP1_HUMAN	Homo sapiens PROP paired-like homeobox 1 (PROP1), mRNA.	176					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGGCTGGGAAGGGAGGGCAT	0.622000														26			6		0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110232227	110232227	+	Silent	SNP	G	A	A	rs146929022		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:110232227G>A	uc001tpj.2	-	6	1493	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	TRPV4_uc001tpg.2_Silent_p.F432F|TRPV4_uc021rdp.1_Silent_p.F406F|TRPV4_uc001tph.2_Silent_p.F419F|TRPV4_uc001tpi.2_Silent_p.F359F|TRPV4_uc001tpk.2_Silent_p.F466F	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	466					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGACGGCCCCGAACTTGCGCC	0.602000														108			48		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768856	117768856	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117768856C>T	uc001twn.2	-	1	730	c.19G>A	c.(19-21)Ggt>Agt	p.G7S	NOS1_uc001twm.2_Missense_Mutation_p.G7S	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	7	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGCTGAACACCGAACATGTGA	0.527000														105			10		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769225	13769225	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13769225C>T	uc003jfd.2	-	57	9783	c.9741G>A	c.(9739-9741)atG>atA	p.M3247I	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3247	Stalk (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)					CCTGTGCTTTCATTGTCACTT	0.418000									Kartagener syndrome					222			93		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152847233	152847233	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:152847233G>A	uc021zhb.1	-	2	430	c.207C>T	c.(205-207)gtC>gtT	p.V69V	SYNE1_uc003qot.4_Silent_p.V69V|SYNE1_uc003qou.4_Silent_p.V69V|SYNE1_uc010kjb.1_Silent_p.V69V|SYNE1_uc003qpa.1_Silent_p.V69V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	69	Actin-binding.|CH 1.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCCCAGACAGGACCTCCAGAA	0.413000										HNSCC(10;0.0054)				78			6		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54802110	54802110	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54802110C>T	uc002qfd.3	-	5	1170	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Missense_Mutation_p.E296K	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	359	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.G360G(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCTGCCCCCTCCTTGGTCAAA	0.597000														124			41		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51863539	51863539	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51863539G>A	uc001rys.1	+	11	1669	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G	SLC4A8_uc010sni.2_Silent_p.G444G|SLC4A8_uc001rym.3_Silent_p.G444G|SLC4A8_uc001ryn.3_Silent_p.G444G|SLC4A8_uc001ryo.2_Silent_p.G444G|SLC4A8_uc010snj.2_Silent_p.G524G|SLC4A8_uc001ryq.4_Silent_p.G497G|SLC4A8_uc001ryr.3_Silent_p.G497G|SLC4A8_uc010snk.2_Silent_p.G444G	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	497					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCACCTTTGGGGGACTGCTTG	0.502000														104			15		0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003639	57003639	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57003639G>A	uc001njo.3	-	0	1289	c.840C>T	c.(838-840)ccC>ccT	p.P280P	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	280						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CAAAGTCACAGGGCCAGTGCA	0.562000														32			12		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49691586	49691586	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49691586G>A	uc003cxe.4	+	4	4711	c.4597G>A	c.(4597-4599)Ggt>Agt	p.G1533S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1533					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGTAGCCCAGGGTACACAAAC	0.612000														92			39		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324066	152324066	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152324066G>A	uc001ezw.4	-	2	6269	c.6196C>T	c.(6196-6198)Cat>Tat	p.H2066Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2066							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)			TGTCTCTCATGAACTGAGGAT	0.532000														481			196		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113943595	113943595	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113943595C>T	uc002tjc.3	+	4	1574	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	PSD4_uc002tjd.3_Missense_Mutation_p.S85L|PSD4_uc002tje.3_Missense_Mutation_p.S435L|PSD4_uc002tjf.3_Missense_Mutation_p.S85L	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	464					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCCTGCATCGTCCCAGGAG	0.617000														38			14		0	0	1	0	0
C1QTNF5	114902	broad.mit.edu	37	11	119216622	119216622	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:119216622G>A	uc010rzg.1	-	3	448	c.288C>T	c.(286-288)ccC>ccT	p.P96P	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	96					embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCCCAGATGGGGGTGCAGCCT	0.642000														48			22		0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789634	248789634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248789634C>T	uc001ier.1	-	0	796	c.796G>A	c.(796-798)Gag>Aag	p.E266K		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			TTGTCCTGCTCGGGGGTGTGG	0.502000														74			22		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38433628	38433628	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:38433628C>T	uc003tgu.3	-	17	1801	c.1585G>A	c.(1585-1587)Gag>Aag	p.E529K	AMPH_uc003tgv.3_Missense_Mutation_p.E487K|AMPH_uc003tgt.3_Missense_Mutation_p.E414K|AMPH_uc003tgw.1_Missense_Mutation_p.E552K|AMPH_uc010kxl.1_Non-coding_Transcript	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	529					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GCTTCGAGCTCCTCTGCTTCA	0.572000														130			28		0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70229978	70229978	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:70229978G>A	uc003tvw.4	+	7	2190	c.1455G>A	c.(1453-1455)ggG>ggA	p.G485G	AUTS2_uc003tvx.4_Silent_p.G485G|AUTS2_uc011keg.2_5'Flank	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	485										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACCCGGCCGGGAGCACTTACT	0.627000														45			10		0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141408672	141408673	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141408672_141408673CC>TT	uc003vwn.2	+	0	520_521	c.114_115CC>TT	c.(112-117)agccaa>agTTaa	p.Q39*	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	39					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGGCTTCGAGCCAAACCCCAGA	0.465000														198			58		0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201332429	201332429	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201332429G>A	uc001gwf.3	-	11	664	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_5'Flank|TNNT2_uc021phc.1_Nonsense_Mutation_p.Q189*|TNNT2_uc001gwg.3_Nonsense_Mutation_p.Q189*|TNNT2_uc001gwh.3_Nonsense_Mutation_p.Q180*|TNNT2_uc001gwi.3_Nonsense_Mutation_p.Q159*|TNNT2_uc009wzr.3_Nonsense_Mutation_p.Q130*|TNNT2_uc001gwj.1_Non-coding_Transcript|TNNT2_uc009wzs.1_Nonsense_Mutation_p.Q164*|TNNT2_uc001gwk.1_Nonsense_Mutation_p.Q130*|TNNT2_uc009wzt.1_Nonsense_Mutation_p.Q189*	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	199					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CCTACCTTCTGGATGTAACCC	0.552000														224			32		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582507	136582507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:136582507G>A	uc003qgx.1	-	11	2906	c.2653C>T	c.(2653-2655)Cct>Tct	p.P885S	BCLAF1_uc011edb.1_Missense_Mutation_p.P164S|BCLAF1_uc003qgy.1_Missense_Mutation_p.P834S|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.P883S|BCLAF1_uc003qgw.1_Missense_Mutation_p.P712S	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	885					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTCCATTTAGGACTGCTACCT	0.433000														293			58		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96239919	96239919	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:96239919G>A	uc001vmk.3	-	19	2944	c.2092C>T	c.(2092-2094)Cca>Tca	p.P698S	DZIP1_uc001vmj.3_Missense_Mutation_p.P174S|DZIP1_uc001vml.3_Missense_Mutation_p.P679S	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	698					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AGTGGGCCTGGGGATGCGTAT	0.572000														44			18		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121358776	121358776	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121358776G>A	uc001pxx.3	+	3	693	c.564G>A	c.(562-564)tgG>tgA	p.W188*		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	188					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGTACCTCTGGATCACGTTTG	0.517000														335			133		0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70721023	70721023	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:70721023C>T	uc003heo.3	-	2	380	c.267G>A	c.(265-267)atG>atA	p.M89I	SULT1E1_uc010ihv.1_Missense_Mutation_p.M89I	NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	89					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CGTTACCATTCATGAGGTTTT	0.318000														41			11		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43847746	43847747	+	Missense_Mutation	DNP	CC	TT	TT	rs150619594		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:43847746_43847747CC>TT	uc010skx.2	-	11	1723_1724	c.1723_1724GG>AA	c.(1723-1725)gga>AAa	p.G575K		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	575	TSP type-1 1.					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)		ACTTTCGATTCCGCCTCCACAT	0.416000														15			6		0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52827873	52827873	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52827873G>A	uc001saj.2	-	0	238	c.216C>T	c.(214-216)tcC>tcT	p.S72S		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	72	Gly-rich.|Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		ACCCATTGATGGAGACCCGCT	0.622000														67			34		0	0	1	0	0
TBX6	6911	broad.mit.edu	37	16	30097955	30097955	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30097955T>C	uc010veh.2	-	7	1035	c.975A>G	c.(973-975)gaA>gaG	p.E325E	BOLA2_uc010bzb.1_Intron	NM_004608	NP_004599	O95947	TBX6_HUMAN	Homo sapiens T-box 6 (TBX6), mRNA.	325					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						CTGGGGCCTGTTCTGGATCTG	0.662000														11			3		0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423267	47423267	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47423267C>T	uc010ekv.3	+	0	1335	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	445	FF 3.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CTTCTCCTTTCATAACTCCCG	0.453000														74			7		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90872781	90872781	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:90872781T>A	uc003hst.3	+	6	3215	c.3144T>A	c.(3142-3144)caT>caA	p.H1048Q	MMRN1_uc010iku.3_Missense_Mutation_p.H351Q|MMRN1_uc011cds.2_Missense_Mutation_p.H790Q	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	1048	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTAGTCGGCATCCGTGCCAAA	0.433000														56			20		0	0	1	0	0
MAGEH1	28986	broad.mit.edu	37	X	55479462	55479463	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:55479462_55479463CC>TT	uc004dum.3	+	0	925_926	c.655_656CC>TT	c.(655-657)cct>TTt	p.P219F		NM_014061	NP_054780	Q9H213	MAGH1_HUMAN	Homo sapiens melanoma antigen family H, 1 (MAGEH1), mRNA.	219					apoptosis			p.P219S(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						TTATTCCGCCCCTTAAGTAGAT	0.495000														17			24		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23410955	23410955	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:23410955C>T	uc004dal.4	+	2	1328	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	440					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ATAGTATCTTCTGTAGAAAAG	0.468000														29			60		0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36301496	36301496	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:36301496C>T	uc011cow.2	-	0	516	c.23G>A	c.(22-24)gGc>gAc	p.G8D	RANBP3L_uc003jkh.3_Missense_Mutation_p.G8D	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	8					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			GTGGCTGCTGCCTTTTCTTGG	0.542000														111			24		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142612675	142612675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142612675C>T	uc003wby.1	-	8	1450	c.1186G>A	c.(1186-1188)Gct>Act	p.A396T		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	396					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ATGATCACAGCCCCAACGATG	0.537000														41			9		0	0	1	0	0
SRRM3	222183	broad.mit.edu	37	7	75894696	75894696	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:75894696C>T	uc010ldi.2	+	9	949	c.740C>T	c.(739-741)tCc>tTc	p.S247F	SRRM3_uc011kgi.2_5'UTR	NM_001110199	NP_001103669			Homo sapiens serine/arginine repetitive matrix 3 (SRRM3), mRNA.									p.S247Y(2)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						CACACAGAGTCCCCAGGCCGG	0.642000														45			22		0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6925289	6925289	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6925289C>T	uc001qqv.2	+	5	933	c.675C>T	c.(673-675)ctC>ctT	p.L225L	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_3'UTR|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_Silent_p.L46L|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	225	Ig-like C2-type 2.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CCTTCCCACTCGCCTTTACAG	0.562000														71			39		0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182517	100182517	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:100182517C>T	uc001ygo.3	+	8	888	c.888C>T	c.(886-888)ttC>ttT	p.F296F	CYP46A1_uc001ygp.3_Silent_p.F143F	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	296					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TGGACAACTTCGTCACCTTCT	0.542000														63			32		0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6925421	6925421	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6925421C>T	uc001qqv.2	+	5	1065	c.807C>T	c.(805-807)gaC>gaT	p.D269D	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_3'UTR|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_Silent_p.D90D|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	269	Ig-like C2-type 2.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	p.D269E(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				TTACCCAGGACCCTAAGCTCC	0.587000														95			25		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43846452	43846452	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:43846452G>A	uc010skx.2	-	12	1807	c.1807C>T	c.(1807-1809)Cga>Tga	p.R603*		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	603	TSP type-1 1.					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)		TTACATGATCGAAATTTCATC	0.398000														17			9		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11572916	11572916	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11572916C>T	uc002gne.3	+	16	3226	c.3158C>T	c.(3157-3159)cCc>cTc	p.P1053L	DNAH9_uc010coo.3_Missense_Mutation_p.P347L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1053	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGAACCCTCCCCTCCTTTCT	0.507000														77			37		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46976894	46976894	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46976894G>A	uc003oyt.3	-	10	2476	c.2277C>T	c.(2275-2277)ttC>ttT	p.F759F	GPR110_uc011dwl.2_Silent_p.F447F	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	759					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GCACCACAACGAAGTTCACAG	0.527000														55			30		0	0	1	0	0
SHOX	6473	broad.mit.edu	37	X	595460	595460	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:595460C>T	uc004cph.1	+	2	1076	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L	SHOX_uc004cpi.3_Silent_p.L129L	NM_000451	NP_000442	O15266	SHOX_HUMAN	Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.	129					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCTGGAGCAGCTGAACGAGCT	0.637000														23			16		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57945727	57945727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:57945727G>A	uc002emt.2	-	24	2487	c.2422C>T	c.(2422-2424)Ctt>Ttt	p.L808F	CNGB1_uc010cdh.2_Missense_Mutation_p.L802F	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	808					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAGTAATAAAGACAGGAATTC	0.582000														43			15		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12409257	12409257	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12409257C>T	uc001atv.3	+	45	9398	c.9257C>T	c.(9256-9258)tCg>tTg	p.S3086L	VPS13D_uc001atw.3_Missense_Mutation_p.S3061L|VPS13D_uc001atx.3_Missense_Mutation_p.S2273L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3085					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCAGGGGATTCGTTTGCTGTG	0.502000														160			43		0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30398934	30398934	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:30398934G>A	uc003agv.4	+	8	951	c.623G>A	c.(622-624)aGt>aAt	p.S208N	MTMR3_uc003agu.4_Missense_Mutation_p.S208N|MTMR3_uc003agw.4_Missense_Mutation_p.S208N	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	208	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GAACTGGAAAGTGTATCAAGT	0.507000														77			37		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141721479	141721479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141721479G>A	uc003vwy.3	+	5	706	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	218	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTACCAAGTTGAAATCTCCAG	0.438000														97			33		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137707461	137707461	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:137707461G>A	uc004cfe.3	+	50	4436	c.4054G>A	c.(4054-4056)Gag>Aag	p.E1352K		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1352	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCCCCGGAGAGCCTGGCCC	0.622000														23			5		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088044	86088044	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:86088044G>A	uc021rxf.1	+	0	186	c.186G>A	c.(184-186)ccG>ccA	p.P62P	FLRT2_uc001xvr.3_Silent_p.P62P|FLRT2_uc010atd.3_Silent_p.P62P	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	62	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.P62Q(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTGGGATCCCGGAGGGCGTAA	0.517000														122			23		0	0	1	0	0
SBK2	646643	broad.mit.edu	37	19	56041213	56041213	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56041213G>A	uc010ygc.2	-	3	949	c.934C>T	c.(934-936)Ccc>Tcc	p.P312S		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	312	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.H311N(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTCCTTCGGGGGTGAGGGTCC	0.751000														23			14		0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207564903	207564903	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:207564903G>A	uc002vbr.1	-	5	638	c.521C>T	c.(520-522)cCt>cTt	p.P174L		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	174						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		ACTTTCCACAGGGCACAGAGC	0.527000														79			35		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55012584	55012584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:55012584C>T	uc002xxp.2	+	2	626	c.401C>T	c.(400-402)cCc>cTc	p.P134L	CASS4_uc002xxq.4_Missense_Mutation_p.P134L|CASS4_uc010zze.1_Intron|CASS4_uc002xxr.2_Missense_Mutation_p.P134L|CASS4_uc010gio.2_Missense_Mutation_p.P134L	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	134					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.P134S(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TATGAATTCCCCGACCCTCCC	0.572000														115			53		0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71166148	71166148	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:71166148C>T	uc002jje.3	+	1	1050	c.690C>T	c.(688-690)ttC>ttT	p.F230F	SSTR2_uc021ucm.1_Silent_p.F230F	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	230					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			GCTACCTGTTCATTATCATCA	0.512000														139			38		0	0	1	0	0
C9orf173	441476	broad.mit.edu	37	9	140146307	140146307	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140146307G>A	uc004cmk.1	+	1	237	c.225G>A	c.(223-225)caG>caA	p.Q75Q	LOC100129722_uc022bqg.1_Intron|C9orf173_uc004cmj.1_Silent_p.Q76Q|C9orf173_uc011meu.1_Non-coding_Transcript|C9orf173_uc010ncd.1_Non-coding_Transcript|C9orf173_uc004cml.1_Silent_p.Q75Q|C9orf173_uc011mev.1_Silent_p.Q75Q			Q8N7X2	CI173_HUMAN	Homo sapiens chromosome 9 open reading frame 173 (C9orf173), mRNA.	76										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						GCACCCCCCAGGAGTCCCTGC	0.647000														8			4		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739037	38739037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38739037C>T	uc003ciq.3	-	26	5674	c.5674G>A	c.(5674-5676)Gaa>Aaa	p.E1892K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1892					sensory perception	voltage-gated sodium channel complex		p.D1891N(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACAAAACCTTCATCTGGGAGT	0.502000														94			53		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56490832	56490832	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56490832G>A	uc002qmh.3	+	8	3020	c.2949G>A	c.(2947-2949)ctG>ctA	p.L983L	NLRP8_uc010etg.3_Silent_p.L964L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	983						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCAACATCTGAGACATCTGG	0.493000														112			50		0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34029359	34029359	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:34029359G>A	uc001wru.3	+	4	565	c.501G>A	c.(499-501)caG>caA	p.Q167Q	NPAS3_uc001wrs.3_Silent_p.Q154Q|NPAS3_uc001wrv.3_Silent_p.Q137Q|NPAS3_uc001wrt.3_Silent_p.Q135Q|NPAS3_uc001wrw.3_Silent_p.Q65Q	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	167	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CACTAAATCAGGAAGGAAAAT	0.338000														56			23		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37433933	37433933	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:37433933C>T	uc021ppc.1	+	7	1335	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	ANKRD30A_uc001iza.1_Silent_p.F412F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	468						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATCAGAGGTTCCCATCAGAAT	0.254000														89			45		0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33373143	33373143	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33373143C>T	uc003oef.4	+	6	1721	c.1271C>T	c.(1270-1272)cCt>cTt	p.P424L	KIFC1_uc011drf.2_Missense_Mutation_p.P416L	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	Homo sapiens kinesin family member C1 (KIFC1), mRNA.	424	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GAGGGTGGGCCTGGGGGAGAC	0.602000														64			21		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3342631	3342631	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3342631G>A	uc001akf.3	+	13	3208	c.3126G>A	c.(3124-3126)ggG>ggA	p.G1042G	PRDM16_uc001ake.3_Silent_p.G1042G|PRDM16_uc009vlh.3_Silent_p.G742G|PRDM16_uc001akc.3_Silent_p.G1041G	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	1042	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGCACCCCGGGGTCCTCACGA	0.637000			T	EVI1	"""MDS, AML"""									29			17		0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737532	248737532	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248737532G>A	uc001iep.1	-	0	527	c.527C>T	c.(526-528)tCt>tTt	p.S176F		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	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;0.0265)			GATTTTCCTAGACTGGCAAAA	0.527000														82			43		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38939413	38939413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38939413G>A	uc021yzh.1	+	82	12606	c.12497G>A	c.(12496-12498)cGa>cAa	p.R4166Q	DNAH8_uc003ooe.2_Missense_Mutation_p.R3949Q|DNAH8_uc003oog.1_Missense_Mutation_p.R398Q	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTACATGCTCGAAAGCTGATT	0.413000														94			22		0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1903152	1903152	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:1903152C>T	uc002wfq.3	+	4	1308	c.948C>T	c.(946-948)ctC>ctT	p.L316L	SIRPA_uc010zps.2_Silent_p.L296L|SIRPA_uc002wfr.3_Silent_p.L316L|SIRPA_uc002wfs.3_Silent_p.L316L|SIRPA_uc002wft.3_Silent_p.L316L	NM_001040022	NP_542970	P78324	SHPS1_HUMAN	Homo sapiens signal-regulatory protein alpha (SIRPA), transcript variant 1, mRNA.	316	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		TGAGCTGGCTCCTGGTGAATG	0.547000														73			45		0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2718589	2718589	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:2718589G>A	uc003zho.2	+	0	1064	c.850G>A	c.(850-852)Gag>Aag	p.E284K		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	284						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CACCGTGGAGGAGATGCAGCA	0.672000														16			5		0	0	1	0	0
GGTLC2	91227	broad.mit.edu	37	22	22989517	22989517	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22989517G>A	uc010gts.2	+	2	403	c.369G>A	c.(367-369)atG>atA	p.M123I	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gtt.2_Intron	NM_199127	NP_954578	Q14390	GGTL2_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 2 (GGTLC2), transcript variant 1, mRNA.	119					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		AGGTCCGGATGGTGGTGGGAG	0.642000														90			30		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152553713	152553713	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152553713C>T	uc021vrb.1	-	13	1448	c.1419G>A	c.(1417-1419)caG>caA	p.Q473Q	NEB_uc002txu.3_Silent_p.Q473Q|NEB_uc021vrc.1_Silent_p.Q473Q|NEB_uc010fnx.3_Silent_p.Q473Q|NEB_uc021vrd.1_Silent_p.Q473Q|NEB_uc010fny.2_Silent_p.Q27Q	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	473					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGTTATGGTCTGAGGGAAGA	0.383000														61			13		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57967220	57967220	+	Missense_Mutation	SNP	G	A	A	rs146505887	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:57967220G>A	uc002aei.3	+	11	1389	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	GCOM1_uc002aej.3_Missense_Mutation_p.E392K|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.E420K|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Intron|GCOM1_uc002aeq.3_Intron|GCOM1_uc002aen.3_Intron|GCOM1_uc010bfy.3_Intron|GCOM1_uc002aeo.3_Missense_Mutation_p.E420K|GCOM1_uc002aer.1_Non-coding_Transcript	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	420					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GGCCAAGACTGAAGTGGAAAC	0.378000														67			7		0	0	1	0	0
POMC	5443	broad.mit.edu	37	2	25384054	25384054	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:25384054C>T	uc002rfy.1	-	3	963	c.700G>A	c.(700-702)Gac>Aac	p.D234N	POMC_uc002rfz.1_Missense_Mutation_p.D234N|POMC_uc002rga.1_Missense_Mutation_p.D234N	NM_001035256	NP_001030333	P01189	COLI_HUMAN	Homo sapiens proopiomelanocortin (POMC), transcript variant 1, mRNA.	234					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TAGCGCTTGTCCTTGGGCGGG	0.637000														42			4		0	0	1	0	0
EPHX4	253152	broad.mit.edu	37	1	92511195	92511195	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:92511195C>T	uc001don.2	+	3	686	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	194						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TTATTAACTTCCCTCATCCAA	0.388000														99			35		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38942416	38942416	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38942416C>T	uc002oit.3	+	11	1265	c.1135C>T	c.(1135-1137)Cag>Tag	p.Q379*	RYR1_uc002oiu.3_Nonsense_Mutation_p.Q379*	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	379	MIR 5.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CATGCTGCACCAGGAGGGCCA	0.632000														65			18		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48201473	48201473	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:48201473G>A	uc002eff.1	-	27	4340	c.3990C>T	c.(3988-3990)ctC>ctT	p.L1330L	ABCC11_uc002efg.1_Silent_p.L1330L|ABCC11_uc002efh.1_Silent_p.L1292L|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1330	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GGGCAATGACGAGCACGGTGC	0.567000														83			35		0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149511697	149511697	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:149511697C>T	uc010zbt.2	+	3	688	c.661C>T	c.(661-663)Cga>Tga	p.R221*		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	221					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AATGCAAACTCGAAAGGTAAT	0.338000														13			6		0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813667	100813667	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:100813667C>T	uc010svi.2	+	11	1813	c.1500C>T	c.(1498-1500)gtC>gtT	p.V500V	SLC17A8_uc009ztx.3_Silent_p.V450V	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	500					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TCTATGGGGTCTTTGCTTCTG	0.463000														69			27		0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437994	125437994	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125437994G>A	uc011lzb.2	+	0	586	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						CTTTGTCAATGAAATTGTGGC	0.433000														197			56		0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158395161	158395161	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:158395161G>A	uc002tzk.4	-	7	1523	c.1280C>T	c.(1279-1281)tCg>tTg	p.S427L	ACVR1C_uc002tzl.4_Missense_Mutation_p.S347L|ACVR1C_uc010fof.3_Missense_Mutation_p.S270L|ACVR1C_uc010foe.3_Missense_Mutation_p.S377L	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	427	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity	p.S427*(2)|p.S427S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TTCCTCTATCGAGGGATCTGA	0.363000														99			23		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62757842	62757842	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:62757842C>T	uc003peg.2	-	2	524	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	93	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCTGTTTCTTCCTGTAGCCTC	0.373000														143			42		0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	80993272	80993272	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:80993272G>A	uc001xux.2	-	21	3184	c.3013C>T	c.(3013-3015)Cgc>Tgc	p.R1005C	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	1005						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GAATTTCTGCGAACCCTGTAT	0.348000														76			18		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409973	105409973	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105409973C>T	uc010axc.1	-	6	11935	c.11815G>A	c.(11815-11817)Gag>Aag	p.E3939K	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.E3839K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3939						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTGGGGCCTCGACGTCCACC	0.597000														288			90		0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49433061	49433061	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:49433061G>A	uc002efr.3	+	4	713	c.670G>A	c.(670-672)Gag>Aag	p.E224K		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	224										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GTTATCCAAGGAGAACATTCG	0.438000														87			12		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32792919	32792919	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:32792919C>T	uc001utx.3	+	35	5212	c.4716C>T	c.(4714-4716)ctC>ctT	p.L1572L	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACACTCGCCTCGAGTCAAGAT	0.413000														47			11		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507941	155507941	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155507941G>A	uc003iod.1	-	4	698	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	FGA_uc003ioe.1_Missense_Mutation_p.P214S|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	214					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.P214P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCTCTAGAGGGAAGTAAGTCT	0.453000														85			40		0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678058	87678058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:87678058C>T	uc002fkd.3	+	1	831	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	193					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GGCCGTGTCCCGCGGGGGCTT	0.687000														62			32		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30670603	30670603	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30670603G>A	uc003nrg.4	-	12	6357	c.5917C>T	c.(5917-5919)Cct>Tct	p.P1973S	MDC1_uc003nrf.4_Missense_Mutation_p.P604S	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1973	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCTTGCTCAGGGTCGGTCACC	0.547000								Other conserved DNA damage response genes						123			39		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093066	30093066	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:30093066C>T	uc010dmc.3	+	0		c.1441C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		TGGACCACCTCCAGGAGCTCC	0.582000														11			5		0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75442214	75442214	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:75442214C>T	uc010rru.2	+	5	888	c.888C>T	c.(886-888)ccC>ccT	p.P296P	MOGAT2_uc010rrv.2_Silent_p.P214P	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	296					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	p.P296L(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CGCTGCATCCCTCGGAGGAGG	0.577000														60			24		0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1235690	1235690	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1235690C>T	uc003jby.2	+	3	657	c.534C>T	c.(532-534)tcC>tcT	p.S178S		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	178					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACAGTGGCTCCATCCAGTGGT	0.572000														95			40		0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100130033	100130033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:100130033G>A	uc003huo.2	-	5	714	c.620C>T	c.(619-621)tCt>tTt	p.S207F	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_5'UTR|ADH6_uc003hup.4_Missense_Mutation_p.S207F|ADH6_uc010ile.3_Missense_Mutation_p.S207F	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	207					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CATGACAACAGACAAGCCGAC	0.473000														274			39		0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67576471	67576471	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:67576471C>T	uc003jva.3	+	5	1330	c.750C>T	c.(748-750)ctC>ctT	p.L250L		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	250	Rho-GAP.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TCTTCAAGCTCTCTCAAACCT	0.388000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)				151			55		0	0	1	0	0
PRR23C	389152	broad.mit.edu	37	3	138763135	138763135	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:138763135C>T	uc011bmt.1	-	0	600	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	Homo sapiens proline rich 23C (PRR23C), mRNA.	110										breast(2)|lung(7)|skin(2)	11						CCTGAGCATTCGTCGACGGAG	0.647000														7			4		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255045	15255045	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15255045C>T	uc001iob.3	-	7	2549	c.2542G>A	c.(2542-2544)Gcc>Acc	p.A848T		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	848						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGGGGGCTGGCTGCTGGCTCC	0.607000														130			69		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20649578	20649578	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:20649578G>A	uc001mqd.3	+	8	1721	c.1448G>A	c.(1447-1449)gGa>gAa	p.G483E	SLC6A5_uc009yic.3_Missense_Mutation_p.G248E	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	483					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GCTGCATGGGGAGGCCTGATC	0.473000														93			19		0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307027	39307027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:39307027G>A	uc021wwc.1	-	1	1110	c.1070C>T	c.(1069-1071)tCc>tTc	p.S357F	CX3CR1_uc021wwa.1_Missense_Mutation_p.S325F|CX3CR1_uc021wwb.1_Missense_Mutation_p.S325F|CX3CR1_uc003cjl.3_Missense_Mutation_p.S325F|CX3CR1_uc021wwd.1_Missense_Mutation_p.S325F	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	325					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TTCAGATGAGGAGAAATCAAC	0.478000														110			59		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44845619	44845619	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44845619C>T	uc002xrm.2	-	3	1083	c.684G>A	c.(682-684)acG>acA	p.T228T	CDH22_uc010ghk.1_Silent_p.T228T|CDH22_uc002xrn.2_5'UTR	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	228	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R227Q(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CAGGCACAGCCGTCCGGATTA	0.652000														76			23		0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45817352	45817352	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:45817352C>T	uc011bai.2	-	3	607	c.483G>A	c.(481-483)caG>caA	p.Q161Q	SLC6A20_uc011baj.2_Silent_p.Q161Q	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	161					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCCCGTTCTCCTGGAGGGACG	0.607000														143			40		0	0	1	0	0
NSUN4	387338	broad.mit.edu	37	1	46810805	46810805	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:46810805C>T	uc001cpr.1	+	1	535	c.426C>T	c.(424-426)ttC>ttT	p.F142F	NSUN4_uc010omc.1_Silent_p.F93F|NSUN4_uc009vyf.1_Missense_Mutation_p.S43F|NSUN4_uc009vyg.1_Silent_p.F93F|NSUN4_uc001cpt.1_Non-coding_Transcript|NSUN4_uc001cps.1_Intron	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	Homo sapiens NOP2/Sun domain family, member 4 (NSUN4), transcript variant 1, mRNA.	142							methyltransferase activity	p.R141H(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					TCAGTCGCTTCCCTCCTGCCA	0.562000														48			23		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183652084	183652084	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:183652084C>T	uc003ivd.1	+	14	2834	c.2759C>T	c.(2758-2760)tCc>tTc	p.S920F	ODZ3_uc003ive.1_Missense_Mutation_p.S326F	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	920					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TTTGAACGATCCCCATTCCTC	0.418000														23			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584010	179584010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179584010G>A	uc021vsy.1	-	79	20600	c.20375C>T	c.(20374-20376)tCg>tTg	p.S6792L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3453L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7719	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I6792V(1)		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)			GACGTTTTCCGAAAAGCTGGA	0.507000														139			28		0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113924290	113924290	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:113924290G>A	uc009xxy.2	-	12	1510	c.1300C>T	c.(1300-1302)Cct>Tct	p.P434S	GPAM_uc001kzp.3_Missense_Mutation_p.P434S|GPAM_uc001kzq.1_Missense_Mutation_p.P434S	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	434					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TACCTTGAAGGAAGTATAGCT	0.358000														46			14		0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49578756	49578756	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:49578756C>T	uc003ozk.4	-	6	1110	c.1048G>A	c.(1048-1050)Gca>Aca	p.A350T	RHAG_uc010jzl.3_Missense_Mutation_p.A350T|RHAG_uc010jzm.3_Intron	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	350					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GCGCCCATTGCTACTGCCACA	0.478000														58			34		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85775681	85775681	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:85775681C>T	uc003dql.3	+	0	50	c.50C>T	c.(49-51)tCa>tTa	p.S17L	CADM2_uc003dqj.3_Intron|CADM2_uc003dqk.3_Missense_Mutation_p.S24L|CADM2_uc003dqm.2_Intron|CADM2_uc021xay.1_5'UTR|CADM2_uc021xaz.1_Intron|CADM2_uc021xba.1_Intron	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	0					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GCGGCTGCTTCAAAGAATAAA	0.353000														177			20		0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43157211	43157211	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:43157211G>A	uc003xpz.1	+	4	834	c.791G>A	c.(790-792)gGa>gAa	p.G264E	POTEA_uc003xqa.1_Intron	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	264										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATGTATTTGGACAAACTGCT	0.308000														75			6		0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47272290	47272290	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:47272290C>T	uc004dhr.1	+	3	887	c.818C>T	c.(817-819)cCc>cTc	p.P273L		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	273					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GGGGAGAAACCCTATGAATGT	0.448000														11			20		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34003641	34003641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:34003641G>A	uc003oir.4	-	7	2609	c.2246C>T	c.(2245-2247)tCg>tTg	p.S749L	GRM4_uc011dsn.2_Missense_Mutation_p.S702L|GRM4_uc010jvh.3_Missense_Mutation_p.S749L|GRM4_uc010jvi.3_Missense_Mutation_p.S441L|GRM4_uc003oio.3_Missense_Mutation_p.S441L|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.S609L|GRM4_uc003oiq.3_Missense_Mutation_p.S616L|GRM4_uc011dsm.2_Missense_Mutation_p.S580L	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	749					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CGACAGGTCCGAGATGTCACA	0.617000														66			12		0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119045960	119045960	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:119045960C>T	uc001pvu.3	+	5	1863	c.1648C>T	c.(1648-1650)Cct>Tct	p.P550S	NLRX1_uc010rzc.1_Missense_Mutation_p.P372S|NLRX1_uc001pvv.3_Missense_Mutation_p.P550S|NLRX1_uc001pvw.3_Missense_Mutation_p.P550S|NLRX1_uc001pvx.3_Missense_Mutation_p.P550S	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	550	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)		GCGGGCTCTGCCTCTGCTCTT	0.627000														66			35		0	0	1	0	0
FGF19	9965	broad.mit.edu	37	11	69514115	69514115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:69514115G>A	uc001opf.3	-	2	1028	c.566C>T	c.(565-567)tCt>tTt	p.S189F		NM_005117	NP_005108	O95750	FGF19_HUMAN	Homo sapiens fibroblast growth factor 19 (FGF19), mRNA.	189					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of ERK1 and ERK2 cascade|positive regulation of JNK cascade|positive regulation of cell proliferation|positive regulation of glucose import	extracellular region	fibroblast growth factor receptor binding|growth factor activity	p.F188L(1)		large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CAGGGGCGAAGAGAACATGTC	0.577000														95			34		0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020498	56020498	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56020498C>T	uc010rjd.2	+	0	823	c.823C>T	c.(823-825)Cta>Tta	p.L275L		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H274Q(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGGCTCTCACCTAACTGGAGT	0.408000														154			59		0	0	1	0	0
RHPN1	114822	broad.mit.edu	37	8	144461624	144461624	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144461624C>T	uc003yyb.3	+	7	1024	c.891C>T	c.(889-891)tcC>tcT	p.S297S		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA.	297	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)			CACCTGCCTCCATGGCCCCCC	0.692000														9			3		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457844	5457844	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:5457844C>T	uc003jdm.4	+	11	1313	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	364	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTACCGTCTTCATTTGCACCT	0.463000														250			80		0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28618371	28618371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:28618371C>T	uc002dqn.3	-	7	1265	c.673G>A	c.(673-675)Gat>Aat	p.D225N	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.D134N|SULT1A1_uc002dqi.3_Missense_Mutation_p.D134N|SULT1A1_uc002dqk.3_Missense_Mutation_p.D134N|SULT1A1_uc002dql.3_Missense_Mutation_p.D134N|SULT1A1_uc002dqm.3_Missense_Mutation_p.D56N|SULT1A1_uc002dqp.3_Missense_Mutation_p.D134N	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	134					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						ACTGCCACATCCTTTGCGTTG	0.572000														90			20		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800940	185800940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:185800940G>A	uc002uph.3	+	3	1411	c.817G>A	c.(817-819)Gag>Aag	p.E273K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	273						intracellular	zinc ion binding	p.E272G(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAGTTCTGAGGAGAAAACTAA	0.393000														103			26		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114278641	114278641	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:114278641C>T	uc003ibe.4	+	37	8967	c.8867C>T	c.(8866-8868)tCt>tTt	p.S2956F	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S2971F	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2923					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGTTTTCACTCTTCTGAAGTG	0.393000														245			56		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16822601	16822601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:16822601C>T	uc010rcu.1	-	16	2344	c.2329G>A	c.(2329-2331)Gaa>Aaa	p.E777K	PLEKHA7_uc001mmo.3_Missense_Mutation_p.E777K|PLEKHA7_uc010rcv.2_Missense_Mutation_p.E351K|PLEKHA7_uc001mmn.3_Missense_Mutation_p.E485K	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	777					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TTCAGGTATTCGTTCCAAGCA	0.498000														174			48		0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71150068	71150068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:71150068C>T	uc001oqk.3	-	6	938	c.688G>A	c.(688-690)Ggg>Agg	p.G230R	DHCR7_uc001oql.3_Missense_Mutation_p.G230R	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	230					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	AACCACTTCCCGATCCGAGGG	0.473000									Smith-Lemli-Opitz syndrome					50			21		0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269468	30269468	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:30269468C>T	uc022buh.1	+	0	858	c.858C>T	c.(856-858)ctC>ctT	p.L286L	MAGEB1_uc004dcc.3_Silent_p.L286L|MAGEB1_uc004dcd.3_Silent_p.L286L|MAGEB1_uc004dce.3_Silent_p.L286L	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	286	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TGAAAGTCCTCGAGTTTTTGG	0.507000														30			46		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119750052	119750052	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:119750052G>A	uc002tln.1	+	15	1384	c.1252_splice	c.e15+1	p.G418_splice	MARCO_uc010yyf.1_Splice_Site_p.G340_splice	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	418	Collagen-like.				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						AGGTGAAAGAGGTAATCACTA	0.413000														45			10		0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44148446	44148446	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:44148446C>T	uc001mya.3	+	5	1175	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V	EXT2_uc010rfo.2_Silent_p.V368V|EXT2_uc009ykt.3_Silent_p.V340V|EXT2_uc001mxz.3_Silent_p.V340V	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	340					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTGGCTGTGTCCCGGTTGTCA	0.498000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses					110			37		0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6262747	6262747	+	Missense_Mutation	SNP	C	T	T	rs141400949	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6262747C>T	uc001mco.3	+	4	1119	c.1004C>T	c.(1003-1005)gCt>gTt	p.A335V	CNGA4_uc010raa.2_Missense_Mutation_p.A104V|CNGA4_uc001mcn.3_Missense_Mutation_p.A295V	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	335					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGAAGTGGCTGTGTCTGTG	0.577000														86			37		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195490982	195490982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:195490982G>A	uc021xjp.1	-	10	14134	c.13978C>T	c.(13978-13980)Ctc>Ttc	p.L4660F	MUC4_uc003fuz.3_Missense_Mutation_p.L258F|MUC4_uc003fva.3_Missense_Mutation_p.L140F|MUC4_uc003fvb.3_Missense_Mutation_p.L176F|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.L176F|MUC4_uc010hzr.3_Intron|MUC4_uc021xjm.1_Missense_Mutation_p.L169F|MUC4_uc021xjn.1_Missense_Mutation_p.L349F|MUC4_uc021xjo.1_Missense_Mutation_p.L140F|MUC4_uc021xjg.1_Missense_Mutation_p.L140F|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.L224F|MUC4_uc021xjj.1_Missense_Mutation_p.L224F|MUC4_uc021xjk.1_Missense_Mutation_p.L401F|MUC4_uc021xjl.1_Missense_Mutation_p.L140F|MUC4_uc003fvo.3_Missense_Mutation_p.L424F|MUC4_uc003fvp.3_Missense_Mutation_p.L373F	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1417					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGGCACAGAGGTAGGGCTTG	0.657000														6			4		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000416	16000416	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16000416G>A	uc002nbs.1	-	6	785	c.735C>T	c.(733-735)ttC>ttT	p.F245F	CYP4F2_uc010xot.1_Silent_p.F96F|CYP4F2_uc010xou.1_Silent_p.F96F	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	245					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATAATACAGGAAGTCAATAT	0.552000														150			70		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476041	120476041	+	Silent	SNP	C	T	T	rs140976297		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:120476041C>T	uc004bjz.3	+	2	1926	c.1635C>T	c.(1633-1635)tcC>tcT	p.S545S	TLR4_uc004bkb.3_Silent_p.S345S|TLR4_uc004bka.3_Silent_p.S505S	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	545					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GTCTGAACTCCCTCCAGGTTC	0.378000														55			11		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19701585	19701585	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:19701585C>T	uc002ykw.3	-	14	1712	c.1681G>A	c.(1681-1683)Gga>Aga	p.G561R		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	561	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATATTCTTTCCTTTTTGTGCA	0.308000														39			13		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65788286	65788286	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65788286G>A	uc001ogt.3	-	5	2061	c.1923C>T	c.(1921-1923)gcC>gcT	p.A641A		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	641					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.R640H(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCCTACCCTGGGCACGGCTGT	0.637000														38			11		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92102891	92102891	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:92102891G>A	uc001xzs.1	-	16	1760	c.1620C>T	c.(1618-1620)gcC>gcT	p.A540A	CATSPERB_uc010aub.1_Silent_p.A62A	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	540					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.A540G(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TGTGCTGTGGGGCAAGCGCAG	0.378000														55			18		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3905604	3905604	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3905604G>A	uc010xhz.2	+	4	810	c.327G>A	c.(325-327)gaG>gaA	p.E109E	ATCAY_uc002lyy.4_Silent_p.E103E			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	103					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)		CCCCCGATGAGACCGACTCGC	0.582000														70			28		0	0	1	0	0
OTOS	150677	broad.mit.edu	37	2	241078664	241078664	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241078664C>T	uc002vyv.3	-	3	348	c.193G>A	c.(193-195)Gac>Aac	p.D65N	MYEOV2_uc002vyu.1_5'Flank|MYEOV2_uc010zof.1_5'Flank	NM_148961	NP_683764	Q8NHW6	OTOSP_HUMAN	Homo sapiens otospiralin (OTOS), mRNA.	65						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CGGGCCATGTCCTCGATCTGG	0.637000														77			29		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66075705	66075705	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:66075705C>T	uc001dci.3	+	12	2217	c.1828C>T	c.(1828-1830)Cag>Tag	p.Q610*	LEPR_uc001dcg.3_Nonsense_Mutation_p.Q610*|LEPR_uc001dch.3_Nonsense_Mutation_p.Q610*|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Nonsense_Mutation_p.Q610*|LEPR_uc001dcj.3_Nonsense_Mutation_p.Q610*|LEPR_uc001dck.3_Nonsense_Mutation_p.Q610*	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	610	Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTATGCTGTTCAGGTGCGCTG	0.413000														174			72		0	0	1	0	0
AAK1	22848	broad.mit.edu	37	2	69752175	69752175	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:69752175G>A	uc002sfp.2	-	9	1550	c.1045C>T	c.(1045-1047)Cca>Tca	p.P349S	AAK1_uc010fdk.2_Missense_Mutation_p.P349S|AAK1_uc010yqm.1_Missense_Mutation_p.P349S	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	Homo sapiens AP2 associated kinase 1 (AAK1), mRNA.	349						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CTGGCCTTTGGCTGGGTCTTT	0.453000														82			18		0	0	1	0	0
EVX1	2128	broad.mit.edu	37	7	27284711	27284711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:27284711G>A	uc003szd.1	+	1	958	c.472G>A	c.(472-474)Gag>Aag	p.E158K	EVX1_uc011jzn.1_5'UTR|EVX1_uc010kuy.1_Silent_p.A139A	NM_001989	NP_001980	P49640	EVX1_HUMAN	Homo sapiens even-skipped homeobox 1 (EVX1), mRNA.	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CGGAGGGAGCGAGACCCCCAA	0.667000														54			31		0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100999520	100999520	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:100999520C>T	uc001pgh.2	-	0	1025	c.282G>A	c.(280-282)agG>agA	p.R94R	PGR_uc001pgi.2_Silent_p.R94R|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	94	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CTCCAGCACCCCTTGTAGCTT	0.632000														46			14		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478515	21478515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:21478515G>A	uc003cce.3	-	4	1028	c.620C>T	c.(619-621)tCg>tTg	p.S207L	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	207						nucleus	nucleic acid binding|zinc ion binding	p.S207L(2)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTGCATAGCGAACAGTAAAG	0.478000														125			17		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104025408	104025408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:104025408G>A	uc001tjw.3	+	5	706	c.520G>A	c.(520-522)Gga>Aga	p.G174R		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	174	EGF-like 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGCAACAGTGGACTAGATGG	0.488000														153			39		0	0	1	0	0
IPMK	253430	broad.mit.edu	37	10	59956189	59956189	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:59956189G>A	uc001jkb.3	-	5	1222	c.899C>T	c.(898-900)tCc>tTc	p.S300F		NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN	Homo sapiens inositol polyphosphate multikinase (IPMK), mRNA.	300						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						ATTAGCTGTGGAACTTAACAC	0.368000														123			27		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49433990	49433990	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49433990G>A	uc001rta.4	-	30	7563	c.7563C>T	c.(7561-7563)tcC>tcT	p.S2521S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2521	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCGTCCCAGGGGACCGGACAA	0.672000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				41			5		0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766709	171766709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:171766709G>A	uc003mbr.3	-	12	1571	c.1400C>T	c.(1399-1401)tCc>tTc	p.S467F		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	467					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGGGGCCGGGAGGGGCCCGT	0.642000														39			15		0	0	1	0	0
LIN54	132660	broad.mit.edu	37	4	83905984	83905984	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:83905984G>A	uc003hnx.3	-	1	392	c.14C>T	c.(13-15)cCa>cTa	p.P5L	LIN54_uc003hnz.3_Missense_Mutation_p.P5L|LIN54_uc003hny.3_5'UTR|LIN54_uc010ijt.2_Missense_Mutation_p.P5L|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Missense_Mutation_p.P5L	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.	5					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CACCTCAGCTGGCACCACCTC	0.383000														126			24		0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96163702	96163702	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:96163702C>T	uc003hto.3	-	6	1339	c.986G>A	c.(985-987)gGa>gAa	p.G329E	UNC5C_uc010ilc.2_Missense_Mutation_p.G329E|UNC5C_uc003htq.3_Missense_Mutation_p.G329E	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	329	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCACTCAGTTCCACAAGTAGA	0.597000														17			7		0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136872763	136872763	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136872763G>A	uc002tuz.3	-	1	830	c.735C>T	c.(733-735)atC>atT	p.I245I	CXCR4_uc002tuy.3_Silent_p.I249I|CXCR4_uc010fnk.3_Silent_p.I230I	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	245					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	AGAAAGCCAGGATGAGGATGA	0.502000														111			19		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30938550	30938550	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:30938550G>A	uc009yjk.1	-	13	1732	c.1663C>T	c.(1663-1665)Cga>Tga	p.R555*	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Nonsense_Mutation_p.R214*	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	186	Doublecortin 2.				intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						GCCTTCATTCGAAGATGAGCT	0.413000														57			35		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64594170	64594170	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64594170C>T	uc001obs.4	-	34	4486	c.4486G>A	c.(4486-4488)Gaa>Aaa	p.E1496K		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1496					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						CCGAGGCCTTCGCTGCCCATG	0.677000														2			4		0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47228830	47228830	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47228830G>A	uc002pfm.3	-	9	1378	c.1345C>T	c.(1345-1347)Cgt>Tgt	p.R449C	STRN4_uc002pfl.3_Missense_Mutation_p.R442C|STRN4_uc010xyf.2_Non-coding_Transcript|STRN4_uc010xyg.1_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	442						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	p.R442C(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GCCAGGGAACGAATGCCGTCG	0.612000														44			13		0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2272573	2272573	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:2272573G>A	uc003gex.2	-	12	2863	c.2543C>T	c.(2542-2544)tCg>tTg	p.S848L	ZFYVE28_uc011bvk.2_Missense_Mutation_p.S778L|ZFYVE28_uc011bvl.2_Missense_Mutation_p.S818L|ZFYVE28_uc003gew.2_Missense_Mutation_p.S734L	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	848					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGAGCAGCGCGAGCAGAAGAT	0.657000														30			4		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156819153	156819153	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156819153G>A	uc010pht.2	-	5	1628	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	443					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCGGGTTGAAGGCGAAGTAGA	0.602000														106			43		0	0	1	0	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971122	31971122	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:31971122G>A	uc011adc.2	-	0	72	c.72C>T	c.(70-72)ggC>ggT	p.G24G	KRTAP22-1_uc011add.2_5'Flank	NM_181604	NP_853635	Q3LI66	KRA62_HUMAN	Homo sapiens keratin associated protein 6-2 (KRTAP6-2), mRNA.	24						intermediate filament				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						CATAGCCATAGCCTAGGCCTT	0.572000														70			32		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31124949	31124949	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:31124949C>T	uc003tca.2	+	8	850	c.561C>T	c.(559-561)ttC>ttT	p.F187F	ADCYAP1R1_uc003tcg.3_Silent_p.F187F|ADCYAP1R1_uc003tce.2_Silent_p.F187F|ADCYAP1R1_uc003tcb.2_Silent_p.F166F|ADCYAP1R1_uc003tcc.2_Silent_p.F187F|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	187					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CACGCAACTTCATCCACATGA	0.532000														103			33		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976700	20976700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20976700C>T	uc010vbe.2	-	52	8506	c.8506G>A	c.(8506-8508)Gat>Aat	p.D2836N	DNAH3_uc010vbd.2_Missense_Mutation_p.D271N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2836	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AATTTCAGATCCCCAAGAATC	0.413000														91			19		0	0	1	0	0
ZNF155	7711	broad.mit.edu	37	19	44500820	44500820	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44500820C>T	uc010xwt.1	+	5	1028	c.844C>T	c.(844-846)Cat>Tat	p.H282Y	ZNF155_uc002oxy.1_Missense_Mutation_p.H271Y|ZNF155_uc002oxz.1_Missense_Mutation_p.H271Y	NM_198089	NP_932355	Q12901	ZN155_HUMAN	Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA.	271						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GGCCTTCATTCATGATTCCCA	0.393000														173			71		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61939428	61939428	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61939428G>A	uc011aau.2	+	6	861	c.761G>A	c.(760-762)gGg>gAg	p.G254E	COL20A1_uc011aav.2_Missense_Mutation_p.G75E	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	254	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TACAAGGGGGGGAACACGTTC	0.627000														28			12		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173447	51173447	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:51173447C>T	uc021tif.1	-	1	2717	c.2395G>A	c.(2395-2397)Gat>Aat	p.D799N	SALL1_uc021tid.1_Missense_Mutation_p.D799N|SALL1_uc021tie.1_Missense_Mutation_p.D896N|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	896					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTCAGGACATCCCCCTCGATG	0.537000														53			17		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580705	7580705	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7580705G>A	uc003mxp.1	+	22	4561	c.4282G>A	c.(4282-4284)Gaa>Aaa	p.E1428K	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1428	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.E1427K(1)		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)		GAGGGTGGAAGAAGACATCCA	0.488000														59			19		0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32650159	32650159	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:32650159G>A	uc003ami.3	-	1	179	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	59					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GACCAGCGAGGAAGAAGCCTC	0.532000														47			25		0	0	1	0	0
H1FOO	132243	broad.mit.edu	37	3	129267879	129267879	+	Silent	SNP	G	A	A	rs145471008		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:129267879G>A	uc003emu.3	+	2	419	c.414G>A	c.(412-414)agG>agA	p.R138R	H1FOO_uc003emv.3_5'UTR	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN	Homo sapiens H1 histone family, member O, oocyte-specific (H1FOO), mRNA.	138					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding	p.R138R(2)		endometrium(1)|lung(4)|skin(1)	6						TCCAGCCCAGGAAGATGGCCC	0.647000														30			5		0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71602146	71602146	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71602146G>A	uc002fap.2	-	11	1365	c.1266C>T	c.(1264-1266)gtC>gtT	p.V422V		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	422					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TCACCTCGGGGACTGTGATGA	0.512000														50			5		0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81643776	81643776	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:81643776G>A	uc003uhr.1	-	12	1419	c.1163C>T	c.(1162-1164)tCa>tTa	p.S388L	AK055932_uc003uhs.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	388	VWFA.					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)	TTGACCAACTGAAAACGTGAA	0.308000														46			13		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249706	52249706	+	Missense_Mutation	SNP	G	A	A	rs146075164		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52249706G>A	uc021uyn.1	-	2	688	c.542C>T	c.(541-543)tCg>tTg	p.S181L	FPR1_uc002pxq.3_Missense_Mutation_p.S181L|FPR1_uc021uyo.1_Missense_Mutation_p.S181L	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	181					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	p.S181L(2)		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)	GGTCCAGGGCGAAAAGTTAAA	0.527000														75			29		0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331096	85331096	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:85331096C>T	uc001dkl.2	-	0	747	c.708G>A	c.(706-708)aaG>aaA	p.K236K	LPAR3_uc009wcj.1_Silent_p.K236K	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	236					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TCTTCATTAGCTTCATGGGTG	0.498000														21			17		0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57268695	57268695	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:57268695G>A	uc001xcq.3	-	4	926	c.652C>T	c.(652-654)Cac>Tac	p.H218Y	OTX2_uc001xcp.3_Missense_Mutation_p.H210Y|OTX2_uc021rtm.1_Missense_Mutation_p.H40Y|OTX2_uc010aou.3_Missense_Mutation_p.H210Y	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	210					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GGAAGCTGGTGATGCATAGGG	0.522000														47			20		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	22078775	22078775	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:22078775C>T	uc010iuc.2	-	1	469	c.11G>A	c.(10-12)aGg>aAg	p.R4K	CDH12_uc011cno.1_Missense_Mutation_p.R4K|CDH12_uc003jgk.2_Missense_Mutation_p.R4K	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	4					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TAAACAGTTCCTTGTAAGCAT	0.463000										HNSCC(59;0.17)				28			31		0	0	1	0	0
IL5	3567	broad.mit.edu	37	5	131878811	131878811	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:131878811C>T	uc003kxe.1	-	1	196	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_000879	NP_000870	P05113	IL5_HUMAN	Homo sapiens interleukin 5 (colony-stimulating factor, eosinophil) (IL5), mRNA.	51					immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	AACAGGAATCCTCAGAGTCTG	0.328000														46			11		0	0	1	0	0
ME3	10873	broad.mit.edu	37	11	86209145	86209145	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:86209145C>T	uc001pbz.3	-	4	819	c.565G>A	c.(565-567)Gag>Aag	p.E189K	ME3_uc001pca.3_Missense_Mutation_p.E189K|ME3_uc009yvk.3_Missense_Mutation_p.E189K|ME3_uc010rtr.1_Non-coding_Transcript	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	189					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	AGGATGCGCTCCCCATCAGTC	0.627000														85			31		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111748007	111748007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:111748007G>A	uc001tsa.2	+	14	1575	c.1421G>A	c.(1420-1422)cGg>cAg	p.R474Q		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	474	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R474Q(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GACGGCACTCGGACTTTCTCG	0.697000														12			4		0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156635959	156635959	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156635959G>A	uc003lwo.1	+	1	280	c.198G>A	c.(196-198)gtG>gtA	p.V66V		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	66	PH.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGAGATTGTGAAAAGTGACA	0.463000			T	SYK	peripheral T-cell lymphoma									54			8		0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242814347	242814347	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242814347G>A	uc010fzu.1	+	1	663	c.640G>A	c.(640-642)Gac>Aac	p.D214N		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	214						integral to membrane											TACCAGCAATGACCAGGTGCC	0.667000														31			19		0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88945680	88945680	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:88945680C>T	uc002fmm.2	-	10	1949	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	CBFA2T3_uc002fml.2_Missense_Mutation_p.E468K|CBFA2T3_uc002fmk.2_Missense_Mutation_p.E53K	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	554					cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E554K(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GGCCCTACCTCGCTGGAGTCC	0.697000			T	RUNX1	AML									41			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072087	9072087	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9072087G>A	uc002mkp.3	-	2	15563	c.15359C>T	c.(15358-15360)tCt>tTt	p.S5120F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5122	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S5120S(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						TGTGTTTATAGAAGGAAAAAT	0.443000														69			28		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157659643	157659643	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157659643G>A	uc001fqz.4	-	9	2047	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Silent_p.L311L|FCRL3_uc001frb.3_Silent_p.L585L|FCRL3_uc001frc.1_Silent_p.L585L	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	585						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CAGCAAGGACGAGGATGCTGA	0.567000														49			30		0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	43990966	43990966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43990966G>A	uc002own.4	-	10	1565	c.1306C>T	c.(1306-1308)Ctc>Ttc	p.L436F	PHLDB3_uc010eit.3_Missense_Mutation_p.L140F	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 3 (PHLDB3), mRNA.	436										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				AGCTGGTAGAGGGGGTATCTG	0.612000														19			3		0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35463233	35463233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:35463233C>T	uc001mwf.3	-	7	923	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	PAMR1_uc001mwg.3_Missense_Mutation_p.E277K|PAMR1_uc010rew.2_Missense_Mutation_p.E166K|PAMR1_uc010rex.2_Missense_Mutation_p.E237K	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	277	Sushi 1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CAGTTTCTTTCTTCAAGGACT	0.398000														40			23		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14565186	14565186	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:14565186C>T	uc021wtn.1	-	5	714	c.714G>A	c.(712-714)agG>agA	p.R238R	GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_Silent_p.R141R	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	141					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TTGAAATGATCCTGGGGTTAT	0.517000														19			8		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9197355	9197355	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:9197355G>A	uc003jek.2	-	9	1705	c.993C>T	c.(991-993)ttC>ttT	p.F331F		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	331	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGGGCCCAGAGAAGGCCTGCG	0.602000														92			41		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746571	90746571	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90746571C>T	uc011lti.2	-	3	1410	c.1381G>A	c.(1381-1383)Gga>Aga	p.G461R		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	461																	TGGATCCTTCCACGTTGCCCC	0.542000														140			25		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125833454	125833454	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:125833454C>T	uc003eim.1	-	17	2218	c.2028G>A	c.(2026-2028)ggG>ggA	p.G676G	ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Silent_p.G575G|ALDH1L1_uc003ein.1_Silent_p.G211G	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	676	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GGGGTGACTTCCCGCCCAGTT	0.617000														73			37		0	0	1	0	0
CPOX	1371	broad.mit.edu	37	3	98312041	98312041	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:98312041G>A	uc003dsx.3	-	0	415	c.308C>T	c.(307-309)cCt>cTt	p.P103L	CPOX_uc011bgz.2_Missense_Mutation_p.P103L	NM_000097	NP_000088	P36551	HEM6_HUMAN	Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA.	103						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CGAGGTCTTAGGCAACATCTC	0.741000														12			6		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231150513	231150513	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:231150513G>A	uc002vql.3	+	16	1726	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Silent_p.A423A|SP140_uc002vqm.3_Silent_p.A477A|SP140_uc010fxl.3_Silent_p.A510A	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	537					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAAAGAAGGCGAACGTGAATC	0.443000														179			17		0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175111263	175111263	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:175111263C>T	uc003mdc.4	+	1	1671	c.1027C>T	c.(1027-1029)Cag>Tag	p.Q343*	HRH2_uc003mdd.2_Nonsense_Mutation_p.Q343*	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	343					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CCTGAAGCTCCAGGTGTGGAG	0.597000														132			45		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123556375	123556375	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:123556375G>A	uc010nqy.3	-	23	4282	c.4218C>T	c.(4216-4218)atC>atT	p.I1406I	ODZ1_uc011muj.2_Silent_p.I1405I|ODZ1_uc004euj.3_Silent_p.I1399I	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1399					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GGCGTCCTGCGATGATCCGAA	0.498000														40			40		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56026089	56026089	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:56026089C>T	uc021wzo.1	-	9	2391	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K	ERC2_uc003dhr.1_Missense_Mutation_p.E751K|ERC2_uc003dht.1_Missense_Mutation_p.E234K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	751						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.L750L(1)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ATTTACCTCTCCAGTTCTGCG	0.483000														152			9		0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65413779	65413779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65413779C>T	uc001ofb.2	+	6	1518	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C	SIPA1_uc010rom.1_Missense_Mutation_p.R451C|SIPA1_uc001ofd.2_Missense_Mutation_p.R451C|MIR4489_uc021qlo.1_5'Flank	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	451	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	p.R451H(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CACCACCATCCGCTCGCACTT	0.632000														88			36		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028767	37028767	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:37028767C>T	uc004ddl.2	+	0	2336	c.2284C>T	c.(2284-2286)Ctc>Ttc	p.L762F		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	762										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGTATCTCATCTCCGCCCGGA	0.632000														27			41		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175184890	175184890	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:175184890G>A	uc003fit.3	+	7	1538	c.1451G>A	c.(1450-1452)gGg>gAg	p.G484E	NAALADL2_uc003fiu.1_Missense_Mutation_p.G477E|NAALADL2_uc010hwy.1_Missense_Mutation_p.G258E|NAALADL2_uc010hwz.1_Missense_Mutation_p.G78E	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	484					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GTTAAGAGAGGGTGGAGACCA	0.423000														102			39		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34770216	34770216	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34770216C>T	uc002xfb.3	+	5	684	c.513C>T	c.(511-513)ttC>ttT	p.F171F	EPB41L1_uc002xeu.3_Silent_p.F109F|EPB41L1_uc010zvo.1_Silent_p.F171F|EPB41L1_uc002xev.3_Silent_p.F171F|EPB41L1_uc002xew.3_Silent_p.F74F|EPB41L1_uc002xex.3_Silent_p.F140F|EPB41L1_uc002xey.3_Silent_p.F171F|EPB41L1_uc002xez.3_Silent_p.F109F	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	171	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ATTTTGCCTTCACAGTCAAGT	0.577000														61			27		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3422738	3422738	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3422738G>A	uc001akl.3	-	14	2079	c.1852C>T	c.(1852-1854)Cgg>Tgg	p.R618W	MEGF6_uc001akk.3_Missense_Mutation_p.R513W	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	618	EGF-like 11.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CGGTGGCACCGGCCCCGGTTG	0.652000														10			5		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169111329	169111329	+	Missense_Mutation	SNP	G	A	A	rs139449745		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:169111329G>A	uc003maf.3	+	7	816	c.736G>A	c.(736-738)Gac>Aac	p.D246N	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	246					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			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)			GTCTCTCTACGACCCCAACAA	0.498000														151			12		0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57017042	57017042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:57017042C>T	uc003pdm.1	+	11	3000	c.2776C>T	c.(2776-2778)Ccg>Tcg	p.P926S	ZNF451_uc003pdl.3_Missense_Mutation_p.P926S|ZNF451_uc003pdn.1_Missense_Mutation_p.P878S|BC032020_uc003pdq.1_Intron	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	926					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTGGAAGCCTCCGCTCAACTG	0.363000														59			29		0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227192761	227192761	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:227192761G>A	uc001hqr.3	-	33	5747	c.4804C>T	c.(4804-4806)Cca>Tca	p.P1602S	CDC42BPA_uc001hqq.3_Missense_Mutation_p.P901S|CDC42BPA_uc001hqs.3_Missense_Mutation_p.P1521S|CDC42BPA_uc009xes.3_Missense_Mutation_p.P1574S|CDC42BPA_uc010pvs.2_Missense_Mutation_p.P1582S|CDC42BPA_uc001hqp.3_Missense_Mutation_p.P820S|CDC42BPA_uc001hqt.2_Missense_Mutation_p.P480S	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	1615					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GTGATAGATGGAATACTGACT	0.517000														99			28		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841655	8841655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8841655G>A	uc010xkg.2	+	0	265	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTGCGGGGAGAAGGTGCCAC	0.547000														63			26		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53215798	53215798	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53215798G>A	uc001sbb.3	-	8	1499	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	KRT79_uc001sba.3_Missense_Mutation_p.S260F	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	489	Tail.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCACCCAGGGAGATGCCACC	0.622000														57			13		0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33467054	33467054	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:33467054C>T	uc003jhy.3	+	17	2282	c.1987C>T	c.(1987-1989)Cga>Tga	p.R663*	TARS_uc010iup.1_Nonsense_Mutation_p.R604*|TARS_uc011coc.2_Nonsense_Mutation_p.R684*|TARS_uc003jhz.3_Nonsense_Mutation_p.R559*|TARS_uc011cod.2_Nonsense_Mutation_p.R542*	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	663					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.R663*(2)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TAAAAAGATTCGAAATGCACA	0.373000														58			28		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97987291	97987291	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:97987291G>A	uc001kls.4	-	4	414	c.236C>T	c.(235-237)tCg>tTg	p.S79L	BLNK_uc001kme.4_5'UTR|BLNK_uc001klt.4_5'UTR|BLNK_uc009xvc.3_Intron|BLNK_uc001klu.4_5'UTR|BLNK_uc001klv.4_Missense_Mutation_p.S79L|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Missense_Mutation_p.S79L|BLNK_uc001kly.4_Missense_Mutation_p.S79L|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.S79L|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_5'UTR|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	79					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CTCTGAGTCCGAGTGCTCATC	0.592000														130			16		0	0	1	0	0
YOD1	55432	broad.mit.edu	37	1	207222587	207222587	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207222587G>A	uc001hfe.1	-	1	872	c.825C>T	c.(823-825)ttC>ttT	p.F275F	PFKFB2_uc010psc.2_Intron|YOD1_uc001hff.1_Silent_p.F231F	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN	Homo sapiens YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae) (YOD1), mRNA.	275					ER-associated protein catabolic process|cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CTGGATCAGGGAAGTTACGCT	0.413000														179			74		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46801018	46801018	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46801018G>A	uc011dwh.1	+	9	1444	c.1436G>A	c.(1435-1437)gGg>gAg	p.G479E	MEP1A_uc010jzh.1_Missense_Mutation_p.G451E|MEP1A_uc011dwg.1_Missense_Mutation_p.G173E|MEP1A_uc011dwi.1_Missense_Mutation_p.G351E	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	451	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ACCAGCAAAGGGGACAAGCTT	0.483000														80			29		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115412772	115412772	+	Silent	SNP	G	A	A	rs149492667		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115412772G>A	uc001lal.3	-	5	656	c.492C>T	c.(490-492)ccC>ccT	p.P164P	NRAP_uc001laj.3_Silent_p.P164P|NRAP_uc001lak.3_Silent_p.P164P	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	164						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCTTGCCCCTGGGTTGCTCAT	0.473000														96			35		0	0	1	0	0
RBP1	5947	broad.mit.edu	37	3	139237318	139237318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:139237318C>T	uc003eti.2	-	2	596	c.485G>A	c.(484-486)gGt>gAt	p.G162D		NM_002899	NP_002890	P09455	RET1_HUMAN	Homo sapiens retinol binding protein 1, cellular (RBP1), transcript variant 1, mRNA.	100						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	CTCCTTCTCACCCTTCTGCAC	0.612000														79			5		0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104493142	104493142	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:104493142G>A	uc001yom.4	+	27	3178	c.3148G>A	c.(3148-3150)Gtc>Atc	p.V1050I	TDRD9_uc001yon.4_Missense_Mutation_p.V788I	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	1050					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CCTTGTGAAGGTCTTCTCTGT	0.572000														58			23		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173416	126173416	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:126173416G>A	uc003vlr.2	-	7	2331	c.2020C>T	c.(2020-2022)Cac>Tac	p.H674Y	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.H674Y|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	674					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AATATTCGGTGGATACGGTTT	0.502000										HNSCC(24;0.065)				87			23		0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7796584	7796584	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7796584G>A	uc002mhp.4	-	1	198	c.129C>T	c.(127-129)gtC>gtT	p.V43V	CLEC4G_uc021uny.1_Silent_p.V31V	NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	Homo sapiens C-type lectin domain family 4, member G (CLEC4G), transcript variant 1, mRNA.	43						integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CAGCCCAAAGGACTGTGGTGA	0.607000														34			19		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196786849	196786849	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196786849T>C	uc002utj.4	-	23	3999	c.3898A>G	c.(3898-3900)Agg>Ggg	p.R1300G		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1300	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATAACCAGCCTAGGGGAATTA	0.343000														44			20		0	0	1	0	0
MRM1	79922	broad.mit.edu	37	17	34964684	34964684	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:34964684C>T	uc002hne.3	+	4	1110	c.895C>T	c.(895-897)Ctt>Ttt	p.L299F	MRM1_uc002hnf.3_Missense_Mutation_p.L104F	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	Homo sapiens mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) (MRM1), nuclear gene encoding mitochondrial protein, mRNA.	299					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TGCAGGAATTCTTCTTCACTC	0.542000														108			82		0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169049242	169049242	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169049242G>A	uc003irm.3	+	1	190	c.26G>A	c.(25-27)gGa>gAa	p.G9E		NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	9							calcium ion binding|calcium-dependent phospholipid binding	p.Q8*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CAGGTGCAAGGAACCATCTTC	0.423000														36			28		0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34241243	34241243	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34241243G>A	uc021wcr.1	-	0	2002	c.2002C>T	c.(2002-2004)Ccc>Tcc	p.P668S	CPNE1_uc010zvj.2_Intron|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.P668S|RBM12_uc002xds.3_Missense_Mutation_p.P668S|RBM12_uc002xdr.3_Missense_Mutation_p.P668S|RBM12_uc021wcq.1_Missense_Mutation_p.P668S	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	668	Gly-rich.|Pro-rich.					nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACCGGGAAGTCCTGCA	0.587000														39			21		0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20482730	20482730	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20482730G>A	uc010tky.2	-	0	623	c.623C>T	c.(622-624)tCc>tTc	p.S208F		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ACAGCTCAAGGAAAGCAACCC	0.507000														38			20		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21856193	21856193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:21856193G>A	uc003svc.3	+	64	10493	c.10462G>A	c.(10462-10464)Gaa>Aaa	p.E3488K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3488	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATGTCCACCGAAAATGCCGC	0.493000									Kartagener syndrome					27			15		0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122664263	122664264	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:122664263_122664264CC>TT	uc021pzt.1	+	24	3379_3380	c.3133_3134CC>TT	c.(3133-3135)ccc>TTc	p.P1045F	WDR11_uc010qte.2_Missense_Mutation_p.P647F|WDR11_uc001lfd.1_Missense_Mutation_p.P563F|AX747838_uc001lfe.1_5'Flank	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	1045						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CTCGTCAGGCCCCTCTCAGAGC	0.446000														90			29		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781930	128781930	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:128781930G>A	uc001qet.3	+	1	1076	c.762G>A	c.(760-762)caG>caA	p.Q254Q	KCNJ5_uc009zck.3_Silent_p.Q254Q|KCNJ5_uc001qew.3_Silent_p.Q254Q	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	254					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CCCTGAACCAGACAGACATCA	0.592000														131			20		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220168485	220168485	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220168485G>A	uc002vkz.3	-	3	590	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	PTPRN_uc010zlc.2_Missense_Mutation_p.R27C|PTPRN_uc002vla.3_Missense_Mutation_p.R117C	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	117					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TCTGGGGGGCGAAGCCTGGGG	0.542000														36			12		0	0	1	0	0
LRRC58	116064	broad.mit.edu	37	3	120053973	120053973	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:120053973G>A	uc003edr.2	-	2	739	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C		NM_001099678	NP_001093148	Q96CX6	LRC58_HUMAN	Homo sapiens leucine rich repeat containing 58 (LRRC58), mRNA.	215										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		CTTAGGGAACGAAGTGAATGT	0.343000														51			15		0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86518880	86518880	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:86518880G>A	uc004ana.3	-	3	697	c.553C>T	c.(553-555)Ctt>Ttt	p.L185F	KIF27_uc010mpw.3_Missense_Mutation_p.L185F|KIF27_uc010mpx.3_Missense_Mutation_p.L185F	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	185	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATCTCCAAAAGACTCATCACT	0.408000														185			99		0	0	1	0	0
LOC441666	441666	broad.mit.edu	37	10	42832015	42832015	+	RNA	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:42832015A>C	uc010qey.2	-	2		c.1960T>G								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		TATGTACATTAAGGTCTAAAG	0.343000														5			2		0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568987	140568987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140568987C>T	uc003liw.1	+	1	2093	c.2093C>T	c.(2092-2094)tCg>tTg	p.S698L	PCDHB10_uc003lix.3_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	699					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGTCTTCGCTCTTCCTC	0.697000														237			44		0	0	1	0	0
KLF11	8462	broad.mit.edu	37	2	10187786	10187786	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:10187786C>T	uc002raf.1	+	2	484	c.322C>T	c.(322-324)Cct>Tct	p.P108S	KLF11_uc021vdq.1_Missense_Mutation_p.P91S|KLF11_uc010yjc.2_Missense_Mutation_p.P91S	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	108					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GTGCATAACTCCTCCTCAGAG	0.413000														75			12		0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746637	158746637	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158746637C>T	uc010pir.2	-	0	789	c.789G>A	c.(787-789)aaG>aaA	p.K263K		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AATAGCTCTTCTTTAGCCGCA	0.443000														77			37		0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16977298	16977298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16977298C>T	uc002ney.2	+	12	1856	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	SIN3B_uc002nez.2_Silent_p.F579F|SIN3B_uc010xpi.1_Silent_p.F169F	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	611					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGTGAACTTCAAGCAGAACG	0.597000														84			26		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480398	140480398	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140480398G>A	uc003lio.3	+	0	165	c.165G>A	c.(163-165)agG>agA	p.R55R	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	55	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGGACTAAGGGTAGAGGAAC	0.512000														86			29		0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151818293	151818293	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151818293C>T	uc004ffp.1	+	5	719	c.699C>T	c.(697-699)ttC>ttT	p.F233F		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	233						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCTCAGTTCACTTTCCTGG	0.498000														50			36		0	0	1	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67440214	67440214	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67440214G>A	uc010vjm.2	-	2	445	c.141C>T	c.(139-141)ccC>ccT	p.P47P		NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	Homo sapiens zinc finger, DHHC-type containing 1 (ZDHHC1), mRNA.	47						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GCGGGTGAGGGGGCCAGCTCC	0.667000														12			5		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87145863	87145863	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87145863G>A	uc003uiz.2	-	24	3539	c.3046C>T	c.(3046-3048)Cct>Tct	p.P1016S	ABCB1_uc011khc.2_Missense_Mutation_p.P952S	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	1016					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)	TCAATCAAAGGGGTTTTTTCA	0.448000														107			31		0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58232411	58232411	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58232411T>A	uc002qpz.4	-	3	1142	c.1043A>T	c.(1042-1044)aAa>aTa	p.K348I	ZNF551_uc002qpx.3_Intron|ZNF671_uc010eug.3_Missense_Mutation_p.K271I|ZNF671_uc010yhf.2_Missense_Mutation_p.K250I	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	Homo sapiens zinc finger protein 671 (ZNF671), mRNA.	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCTAAAGAATTTCCCACATTC	0.448000														89			9		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14775702	14775702	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:14775702G>A	uc003ssz.3	-	3	473	c.286C>T	c.(286-288)Cca>Tca	p.P96S	DGKB_uc011jxt.2_Missense_Mutation_p.P89S|DGKB_uc003sta.3_Missense_Mutation_p.P96S|DGKB_uc011jxu.2_Missense_Mutation_p.P96S|DGKB_uc011jxv.1_Missense_Mutation_p.P96S	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	96					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|protein binding	p.P96Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTTACCATTGGACTAGAATGA	0.348000														14			4		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770051	15770051	+	Silent	SNP	C	T	T	rs140820169	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15770051C>T	uc010xok.2	+	12	1469	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	CYP4F3_uc010xol.2_Silent_p.F473F|CYP4F3_uc002nbj.3_Silent_p.F473F|CYP4F3_uc010xom.2_Silent_p.F324F|CYP4F3_uc002nbk.3_Silent_p.F473F|CYP4F3_uc010xon.2_Silent_p.F183F	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	473					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GGCAGGCGTTCGCGATGGCGG	0.672000														25			19		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188460	7188460	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7188460G>A	uc010sfy.2	-	8	1319	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	498	Sushi 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	GGGCAGCTGTGAGGATCCAGC	0.607000														39			5		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106815979	106815979	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106815979G>A	uc021ser.1	-	558		c.15748C>T								Parts of antibodies, mostly variable regions.																		CTCCCAGGCTGGACCACGCCT	0.577000														76			19		0	0	1	0	0
NKX2-1	7080	broad.mit.edu	37	14	36987098	36987098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:36987098G>A	uc001wtu.3	-	2	687	c.591C>T	c.(589-591)ctC>ctT	p.L197L	SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Silent_p.L167L|NKX2-1_uc001wtv.3_Silent_p.L167L|BX161496_uc001wtw.1_5'Flank	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.	167					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CCTGCGAGAAGAGCACCCGGC	0.672000			A		NSCLC									15			7		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394955	154394955	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:154394955C>T	uc010jih.1	+	0	1696	c.1536C>T	c.(1534-1536)acC>acT	p.T512T		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	512					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACGCTTTTACCACTCAGCATG	0.488000														78			30		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38847158	38847158	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38847158G>A	uc002oih.4	+	9	1257	c.1170G>A	c.(1168-1170)caG>caA	p.Q390Q	CATSPERG_uc002oig.4_Silent_p.Q390Q|CATSPERG_uc002oif.4_Silent_p.Q30Q|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	390					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGCCCAGGCAGTGGTCTGTGT	0.607000														78			23		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42196398	42196398	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:42196398G>A	uc003ose.2	-	17	3911	c.3348C>T	c.(3346-3348)ttC>ttT	p.F1116F	TRERF1_uc011duq.1_Silent_p.F1013F|TRERF1_uc003osb.2_Silent_p.F864F|TRERF1_uc003osc.2_Silent_p.F852F|TRERF1_uc003osd.2_Silent_p.F1096F	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	1096	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTTTGATCTTGAAGAAGACTC	0.468000														344			159		0	0	1	0	0
FBXW2	26190	broad.mit.edu	37	9	123550268	123550268	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:123550268A>C	uc004bkn.2	-	2	692	c.365T>G	c.(364-366)gTg>gGg	p.V122G	FBXW2_uc011lyc.1_5'UTR|FBXW2_uc004bkl.1_Missense_Mutation_p.V90G|FBXW2_uc004bkm.1_Missense_Mutation_p.V90G|FBXW2_uc010mvj.1_Missense_Mutation_p.V90G	NM_012164	NP_036296	Q9UKT8	FBXW2_HUMAN	Homo sapiens F-box and WD repeat domain containing 2 (FBXW2), mRNA.	90					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						GGCACTTATCACCTTATTCCA	0.443000														108			37		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124045712	124045712	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124045712C>T	uc001lgc.1	+	4	585	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	BTBD16_uc001lgd.1_Silent_p.L111L	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	112										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCTGAAAGCCCTGGCGCAGGG	0.602000														115			52		0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53205028	53205028	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:53205028G>A	uc002xwy.3	+	2	401	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	61	PH.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			TCAGGTTACAGAACTCAATAA	0.408000														99			41		0	0	1	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93134671	93134671	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:93134671C>T	uc001tcj.2	+	2	276	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 7 (PLEKHG7), mRNA.	16	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.Y15Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TCATGAATATCTCCTAGATGT	0.323000														50			16		0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53120603	53120603	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:53120603C>T	uc002iuf.1	+	10	1069	c.862C>T	c.(862-864)Cct>Tct	p.P288S	STXBP4_uc010dcc.1_Missense_Mutation_p.P213S|STXBP4_uc010dcd.1_Missense_Mutation_p.P288S	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	288						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						ATAGCTTCTTCCTTGTGATTC	0.323000														22			7		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938588	2938588	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:2938588C>T	uc001ajz.3	+	0	543	c.338C>T	c.(337-339)tCc>tTc	p.S113F		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	113						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		ACGGAGCCCTCCCTGAACCCC	0.602000														61			32		0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212149950	212149950	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:212149950G>A	uc001hiw.2	-	11	1805	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	INTS7_uc001hix.2_Missense_Mutation_p.R404C|INTS7_uc009xdb.2_Missense_Mutation_p.R528C|INTS7_uc001hiy.2_Missense_Mutation_p.R528C|INTS7_uc010pta.2_Missense_Mutation_p.R479C	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	Homo sapiens integrator complex subunit 7 (INTS7), transcript variant 1, mRNA.	528					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CTGGCAATACGGTATACAGTC	0.408000														91			43		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130865584	130865584	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:130865584G>A	uc010fmh.2	-	7	1524	c.1124C>T	c.(1123-1125)cCa>cTa	p.P375L		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	375						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGTCTTACCTGGATTGCTGTT	0.363000														62			10		0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31247718	31247718	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:31247718C>T	uc001rjt.1	+	13	1695	c.1444C>T	c.(1444-1446)Ctc>Ttc	p.L482F	DDX11_uc001rjr.1_Missense_Mutation_p.L482F|DDX11_uc001rjs.1_Missense_Mutation_p.L482F|DDX11_uc001rju.1_Missense_Mutation_p.L160F|DDX11_uc001rjv.1_Missense_Mutation_p.L482F|DDX11_uc001rjw.1_Missense_Mutation_p.L456F|DDX11_uc009zjn.1_Non-coding_Transcript	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	482					G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CAACGACTTTCTCTTCCAGAG	0.502000										Multiple Myeloma(12;0.14)				36			4		0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116277770	116277770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:116277770G>A	uc003pwi.1	-	4	1250	c.803C>T	c.(802-804)tCa>tTa	p.S268L		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	268	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TGGATCCATTGAACCTGAAAC	0.433000														35			29		0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201752810	201752810	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201752810C>T	uc021phi.1	+	6	2981	c.2634C>T	c.(2632-2634)ctC>ctT	p.L878L	NAV1_uc001gwu.3_Silent_p.L878L|NAV1_uc001gwv.1_Silent_p.L386L|NAV1_uc001gww.2_Silent_p.L487L|NAV1_uc001gwx.3_Silent_p.L487L|NAV1_uc001gwy.1_Silent_p.L259L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	878					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						ACCCCAAACTCTCAGGCCTGC	0.597000														72			35		0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63276414	63276414	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63276414G>A	uc001nxc.2	+	2	733	c.392G>A	c.(391-393)aGa>aAa	p.R131K	LGALS12_uc001nxa.2_Missense_Mutation_p.R130K|LGALS12_uc001nxb.2_Missense_Mutation_p.R130K|LGALS12_uc001nxd.2_Missense_Mutation_p.R69K|LGALS12_uc001nxe.2_Missense_Mutation_p.R69K|LGALS12_uc009yot.2_Missense_Mutation_p.R90K	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	130	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GCCCTGCGAAGAGGCTCCAGC	0.592000														54			18		0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96332162	96332162	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:96332162C>T	uc003kmv.1	+	6	1990	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	LNPEP_uc003kmw.1_Silent_p.F478F	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	492					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTGCCACTTTCATGGAGTATT	0.393000														53			11		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37441019	37441019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:37441019G>A	uc021ppc.1	+	11	1608	c.1509G>A	c.(1507-1509)aaG>aaA	p.K503K	ANKRD30A_uc001iza.1_Silent_p.K503K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	559						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.K503N(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCAAACAAAAGGACTATGAAG	0.294000														89			23		0	0	1	0	0
PISD	23761	broad.mit.edu	37	22	32017780	32017780	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:32017780G>A	uc003alm.4	-	3	471	c.413C>T	c.(412-414)cCc>cTc	p.P138L	PISD_uc003alk.2_Missense_Mutation_p.P104L|PISD_uc011alr.1_Missense_Mutation_p.P104L	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	Homo sapiens phosphatidylserine decarboxylase (PISD), mRNA.	138					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	GCTGTAGACGGGCCTGCGCAG	0.617000														53			39		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198725306	198725306	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:198725306C>T	uc001gur.1	+	32	4091	c.3911C>T	c.(3910-3912)tCa>tTa	p.S1304L	PTPRC_uc001gut.1_Missense_Mutation_p.S1143L	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	1304					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AATCAAGGTTCATAGGAAAAG	0.413000														40			17		0	0	1	0	0
LETMD1	25875	broad.mit.edu	37	12	51442255	51442255	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51442255C>T	uc009zlw.3	+	0	174	c.116C>T	c.(115-117)gCc>gTc	p.A39V	LETMD1_uc010smz.2_Missense_Mutation_p.A39V|LETMD1_uc010sna.2_Missense_Mutation_p.A39V|LETMD1_uc001rxm.3_Missense_Mutation_p.A39V|LETMD1_uc001rxn.3_5'UTR|LETMD1_uc001rxo.3_Non-coding_Transcript|LETMD1_uc001rxr.3_Non-coding_Transcript|LETMD1_uc001rxl.3_Intron|LETMD1_uc001rxt.3_5'Flank	NM_001243689	NP_001230618	Q6P1Q0	LTMD1_HUMAN	Homo sapiens LETM1 domain containing 1 (LETMD1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	39	Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GCTTGGGGGGCCCCTCGGTGA	0.577000											OREG0021818	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			43		0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52308303	52308303	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52308303G>A	uc001rzj.3	+	5	989	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	ACVRL1_uc001rzk.3_Missense_Mutation_p.E236K|ACVRL1_uc010snm.2_Missense_Mutation_p.E62K	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	236	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CTCGAGGGATGAACAGTCCTG	0.592000														25			13		0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21459852	21459852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21459852C>T	uc001rer.3	-	3	657	c.406G>A	c.(406-408)Gga>Aga	p.G136R	SLCO1A2_uc010siq.2_Missense_Mutation_p.G4R|SLCO1A2_uc001res.3_Missense_Mutation_p.G136R|SLCO1A2_uc010sio.2_Missense_Mutation_p.G4R|SLCO1A2_uc010sip.2_Missense_Mutation_p.G4R|SLCO1A2_uc001ret.3_Missense_Mutation_p.G134R|SLCO1A2_uc001reu.2_Missense_Mutation_p.G116R	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	136					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ATCTGGGTTCCATTTTCCATA	0.358000														54			11		0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73951407	73951407	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:73951407C>T	uc003pgo.3	-	4	1060	c.559G>A	c.(559-561)Gat>Aat	p.D187N	KHDC1_uc011dyl.1_Intron|KHDC1_uc003pgn.4_Missense_Mutation_p.D114N	NM_001251874	NP_001238803	Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA.	187						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						ACCAGGTCATCGTTGGTCAGA	0.557000														64			9		0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149323976	149323976	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149323976G>A	uc003lrg.4	-	0	381	c.261C>T	c.(259-261)ttC>ttT	p.F87F	PDE6A_uc021yfs.1_Silent_p.F87F	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	87	GAF 1.				GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCTGCAGGAGGAAGCACAGCT	0.517000														63			6		0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10792813	10792813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10792813C>T	uc002mpn.3	+	11	1642	c.1325C>T	c.(1324-1326)tCa>tTa	p.S442L	ILF3_uc010xli.1_Missense_Mutation_p.S40L|ILF3_uc002mpm.2_Missense_Mutation_p.S442L|ILF3_uc002mpl.2_Missense_Mutation_p.S442L|ILF3_uc002mpk.2_Missense_Mutation_p.S442L|ILF3_uc002mpo.3_Missense_Mutation_p.S442L|ILF3_uc002mpp.3_Missense_Mutation_p.S263L	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	442	DRBM 1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GATGGCAATTCATTCGAGGCC	0.557000														77			7		0	0	1	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435525	104435525	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:104435525C>T	uc003kok.3	+	0		c.351C>T								Homo sapiens RAB9B, member RAS oncogene family pseudogene 1 (RAB9BP1), non-coding RNA.																		CAAAAGCTTTCCTTTTGTAAT	0.413000														41			13		0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17675478	17675478	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:17675478G>A	uc003ncd.1	-	3	905	c.705C>T	c.(703-705)gcC>gcT	p.A235A	NUP153_uc011dje.1_Silent_p.A235A|NUP153_uc010jpl.1_Silent_p.A235A	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	235					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTGTTCCAAAGGCAGACAAGT	0.408000														74			25		0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094548	46094548	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46094548G>A	uc002pcm.3	-	1	1522	c.577C>T	c.(577-579)Ccg>Tcg	p.P193S	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.P193S	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	193						integral to plasma membrane	G-protein coupled receptor activity	p.P193P(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		AGCGCCCACGGGAAGAGGAAG	0.642000														62			15		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620296	7620296	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:7620296G>A	uc003bqm.2	+	7	1977	c.1703G>A	c.(1702-1704)aGg>aAg	p.R568K	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.R568K|GRM7_uc003bql.2_Missense_Mutation_p.R568K|GRM7_uc003bqn.1_Missense_Mutation_p.R151K|GRM7_uc010hch.1_Missense_Mutation_p.R79K	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	568					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TATGACCAGAGGCCCAATGAA	0.522000														97			53		0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44118029	44118029	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:44118029C>T	uc003owr.3	+	16	1653	c.1589C>T	c.(1588-1590)cCc>cTc	p.P530L	TMEM63B_uc003ows.3_Missense_Mutation_p.P433L|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	530						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTGCTCCTACCCTCGCTGGGA	0.592000														68			32		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15713626	15713626	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15713626C>T	uc001ioc.1	-	7	823	c.823G>A	c.(823-825)Gag>Aag	p.E275K	ITGA8_uc010qcb.1_Intron	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	275					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCAGTAAACTCCCCAGCAGCA	0.353000														50			17		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41316121	41316121	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:41316121C>T	uc001rmm.1	+	4	404	c.291C>T	c.(289-291)aaC>aaT	p.N97N	CNTN1_uc009zjy.2_Silent_p.N97N|CNTN1_uc001rmn.1_Silent_p.N86N|CNTN1_uc001rmo.3_Silent_p.N97N	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	97	Ig-like C2-type 1.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TAGGAGGAAACCTTGTTATCA	0.408000														74			17		0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238726810	238726810	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:238726810C>T	uc002vxi.4	+	2	1383	c.1251C>T	c.(1249-1251)atC>atT	p.I417I		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	416							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TACCAAAGATCGCAGTCAGAG	0.373000														38			17		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2705137	2705137	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2705137G>A	uc009zdu.1	+	19	3074	c.2761G>A	c.(2761-2763)Gac>Aac	p.D921N	CACNA1C_uc001qkc.2_Missense_Mutation_p.D921N|CACNA1C_uc001qjz.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkd.2_Missense_Mutation_p.D921N|CACNA1C_uc001qke.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkf.2_Missense_Mutation_p.D921N|CACNA1C_uc009zdw.1_Missense_Mutation_p.D921N|CACNA1C_uc001qkg.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkh.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkl.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkj.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkk.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkn.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkm.2_Missense_Mutation_p.D921N|CACNA1C_uc001qko.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkp.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkq.2_Missense_Mutation_p.D921N|CACNA1C_uc001qku.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkr.2_Missense_Mutation_p.D921N|CACNA1C_uc001qks.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkt.2_Missense_Mutation_p.D921N|CACNA1C_uc009zdv.1_Missense_Mutation_p.D918N|CACNA1C_uc001qkb.2_Missense_Mutation_p.D921N|CACNA1C_uc001qka.1_Missense_Mutation_p.D456N|CACNA1C_uc001qki.1_Missense_Mutation_p.D657N	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	921					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGCTGCTGAGGACCCGGTCCA	0.572000														70			21		0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12691844	12691844	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12691844G>A	uc002mtz.2	-	4	1174	c.1045C>T	c.(1045-1047)Ctt>Ttt	p.L349F		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TGTTTTCGAAGGCTTGAGTGA	0.448000														108			27		0	0	1	0	0
AK302306	0	broad.mit.edu	37	15	28600112	28600112	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:28600112C>T	uc010uaf.1	-	2	236	c.218G>A	c.(217-219)aGg>aAg	p.R73K	DQ595648_uc021sgj.1_5'Flank					SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ59579, weakly similar to Homo sapiens golgi autoantigen, golgin subfamily a-like, mRNA;																		CTCTAGCTCCCTCCTTAGGGC	0.507000														60			8		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57771017	57771017	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:57771017C>T	uc002yan.3	+	1	3832	c.3832C>T	c.(3832-3834)Cgt>Tgt	p.R1278C		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1278						intracellular	nucleic acid binding|zinc ion binding	p.R1278C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAAGATGTCTCGTGGGAACAG	0.498000														147			36		0	0	1	0	0
EVL	51466	broad.mit.edu	37	14	100563966	100563966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:100563966C>T	uc001ygu.3	+	2	416	c.329C>T	c.(328-330)gCc>gTc	p.A110V	EVL_uc001ygt.3_Missense_Mutation_p.A108V|EVL_uc001ygv.2_Missense_Mutation_p.A114V	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Homo sapiens Enah/Vasp-like (EVL), mRNA.	108	WH1.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	SH3 domain binding|actin binding|profilin binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				ATGCTGTTTGCCCTGAACATC	0.522000														69			10		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43625187	43625187	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:43625187G>A	uc002rsw.4	-	28	4502	c.4150C>T	c.(4150-4152)Cga>Tga	p.R1384*	THADA_uc010far.3_Nonsense_Mutation_p.R579*|THADA_uc002rsx.4_Nonsense_Mutation_p.R1384*|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Nonsense_Mutation_p.R1093*|THADA_uc010fat.1_Nonsense_Mutation_p.R531*	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1384							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AACAGAGTTCGAATGGTATTA	0.493000														73			50		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14022146	14022146	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:14022146G>A	uc003wwq.3	-	4	1150	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L	SGCZ_uc010lss.3_Silent_p.L117L	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	151					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GCAGAAAACAGCACCCTGCCA	0.408000														72			10		0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123888069	123888069	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:123888069C>T	uc004bkx.1	+	11	1911	c.1880C>T	c.(1879-1881)aCc>aTc	p.T627I	CNTRL_uc004bky.1_Missense_Mutation_p.T231I|CNTRL_uc004bkz.1_Missense_Mutation_p.T75I|CNTRL_uc004bla.1_Missense_Mutation_p.T75I	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	627					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TACCTGGGGACCATTAAAGGC	0.478000														102			29		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237863598	237863598	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:237863598G>A	uc001hyl.1	+	64	9318	c.9198G>A	c.(9196-9198)gaG>gaA	p.E3066E	RYR2_uc010pxz.1_Silent_p.E21E	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3066					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)			ACGCTGCAGAGGATCTGGAGA	0.483000														9			4		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46903410	46903410	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:46903410C>T	uc001ndn.4	-	19	2900	c.2657G>A	c.(2656-2658)cGa>cAa	p.R886Q		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	886					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CATGCCAGCTCGTTCAATCTT	0.512000														41			6		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176308482	176308482	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176308482G>A	uc003mfa.3	-	17	2540	c.2448C>T	c.(2446-2448)ccC>ccT	p.P816P	HK3_uc003mez.3_Silent_p.P372P	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	816	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGAGGTCAGGGGTAGCCCCA	0.652000														31			10		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873228	55873228	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55873228C>T	uc010riy.2	+	0	710	c.710C>T	c.(709-711)gCt>gTt	p.A237V		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AAGCAGAAAGCTTTCTCTACT	0.388000										HNSCC(53;0.14)				101			26		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107868959	107868959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:107868959C>T	uc022ccg.1	+	34	3243	c.3041C>T	c.(3040-3042)cCt>cTt	p.P1014L	COL4A5_uc004enz.1_Missense_Mutation_p.P1014L|COL4A5_uc004eob.1_Missense_Mutation_p.P622L	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1014	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTGGTCTCCCTGGACAGCCA	0.433000									Alport syndrome with Diffuse Leiomyomatosis					18			6		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635402	33635402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:33635402C>T	uc001uus.3	+	3	2194	c.2186C>T	c.(2185-2187)gCc>gTc	p.A729V	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	729	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ATATCCATAGCCTTGCAGGCT	0.493000														62			6		0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100491646	100491647	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100491646_100491647CC>TT	uc003uxd.3	-	0	363_364	c.207_208GG>AA	c.(205-210)gcggag>gcAAag	p.E70K	ACHE_uc003uxe.3_Missense_Mutation_p.E70K|ACHE_uc003uxf.3_Missense_Mutation_p.E70K|ACHE_uc003uxg.3_Missense_Mutation_p.E70K|ACHE_uc003uxh.3_Missense_Mutation_p.E70K|ACHE_uc003uxi.3_Missense_Mutation_p.E70K|ACHE_uc003uxj.1_Missense_Mutation_p.E189K	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	70					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	ATGGGTGGCTCCGCAAAGGGGA	0.649000														24			8		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234197	21234197	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21234197G>A	uc002red.3	-	25	5671	c.5543C>T	c.(5542-5544)tCa>tTa	p.S1848L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1848					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATAGCTTGCTGATAAGGCAGC	0.478000														164			18		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215820886	215820886	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:215820886G>A	uc001hku.1	-	66	15156	c.14769C>T	c.(14767-14769)atC>atT	p.I4923I		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4923	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W4922*(2)		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)		TGGTGAAACTGATCCACTCGG	0.532000										HNSCC(13;0.011)				42			24		0	0	1	0	0
GEM	2669	broad.mit.edu	37	8	95265325	95265325	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:95265325C>T	uc003ygi.3	-	2	471	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	GEM_uc003ygj.3_Missense_Mutation_p.R116Q	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	116					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATCAGGGTTCGTTCATATGT	0.413000														87			42		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40980866	40980866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:40980866C>T	uc002xkg.3	-	9	1804	c.1620G>A	c.(1618-1620)ggG>ggA	p.G540G	PTPRT_uc010ggj.3_Silent_p.G540G	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	540	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGAACACTTTCCCCCTCTGGC	0.527000														90			29		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52395327	52395327	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52395327C>T	uc011bef.2	+	28	5094	c.4833C>T	c.(4831-4833)ctC>ctT	p.L1611L		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1611	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGACCAGCTCGACTTCATGG	0.607000														15			5		0	0	1	0	0
AVEN	57099	broad.mit.edu	37	15	34160047	34160047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34160047G>A	uc001zhj.3	-	4	678	c.622C>T	c.(622-624)Cct>Tct	p.P208S		NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	Homo sapiens apoptosis, caspase activation inhibitor (AVEN), mRNA.	208					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		ACCTCTAAAGGAACTGTACCC	0.448000														71			21		0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82574877	82574877	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:82574877C>T	uc002bgv.3	+	2	740	c.671C>T	c.(670-672)cCa>cTa	p.P224L	FAM154B_uc010unr.2_Missense_Mutation_p.P209L|FAM154B_uc010uns.2_Non-coding_Transcript	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	Homo sapiens family with sequence similarity 154, member B (FAM154B), mRNA.	224										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						AGTTTTCAACCATGGGAAATC	0.463000														99			26		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677717	100677717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100677717C>T	uc003uxp.1	+	2	3073	c.3020C>T	c.(3019-3021)cCt>cTt	p.P1007L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1007	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACAACTCCTGTTGACTCC	0.522000														550			195		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176016169	176016169	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176016169C>T	uc021yie.1	+	21	3268	c.2994C>T	c.(2992-2994)ttC>ttT	p.F998F	CDHR2_uc003mem.2_Silent_p.F998F|CDHR2_uc003men.1_Silent_p.F998F	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	998	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCGACGTGTTCGCTGGGAGCA	0.612000														162			60		0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55912417	55912417	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:55912417G>A	uc002adg.3	-	19	3294	c.3246C>T	c.(3244-3246)acC>acT	p.T1082T		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	1082					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TTAATACAGTGGTGCCTGGCT	0.468000														87			32		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14747289	14747289	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14747289G>A	uc003zlm.3	-	33	6798	c.5982C>T	c.(5980-5982)tcC>tcT	p.S1994S	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Silent_p.S530S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1994					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGTCAGTTGTGGATTCCACCT	0.423000														131			40		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330004	125330004	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125330004G>A	uc004bmp.1	-	0	753	c.753C>T	c.(751-753)ctC>ctT	p.L251L		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTCCATAAAAGAGCGTCACCA	0.463000														35			10		0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67260957	67260957	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:67260957A>G	uc002jif.2	-	22	4452	c.3234T>C	c.(3232-3234)ttT>ttC	p.F1078F	ABCA5_uc002jib.2_Silent_p.F44F|ABCA5_uc002jic.2_Silent_p.F301F|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Silent_p.F1078F	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1078					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TAAGAATGATAAAAAATAAGG	0.308000														95			26		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582700	55582700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:55582700C>T	uc010qhy.1	-	34	5202	c.4807G>A	c.(4807-4809)Gat>Aat	p.D1603N	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.D1598N|PCDH15_uc021pqz.1_Missense_Mutation_p.D1573N|PCDH15_uc010qhv.1_Missense_Mutation_p.D1593N|PCDH15_uc010qhw.1_Missense_Mutation_p.D1556N|PCDH15_uc010qhx.1_Missense_Mutation_p.D1527N|PCDH15_uc010qhz.1_Missense_Mutation_p.D1598N|PCDH15_uc010qia.1_Missense_Mutation_p.D1576N|PCDH15_uc001jju.1_Missense_Mutation_p.D1596N|PCDH15_uc010qib.1_Missense_Mutation_p.D1573N	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1596					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	p.D1596Y(1)		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)				TGCTGCAGATCTATGATCTCT	0.468000										HNSCC(58;0.16)				173			16		0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890618	229890618	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:229890618G>A	uc002vpr.4	-	2	521	c.483C>T	c.(481-483)ttC>ttT	p.F161F	PID1_uc002vps.4_Silent_p.F159F|PID1_uc002vpt.4_Silent_p.F128F|PID1_uc002vpu.4_Silent_p.F79F	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	161	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GGGCCACCTGGAAGGTATCCA	0.572000														75			29		0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132623221	132623221	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:132623221C>T	uc004bys.2	+	6	547	c.336C>T	c.(334-336)tcC>tcT	p.S112S	USP20_uc004byr.2_Silent_p.S112S|USP20_uc004byt.1_Silent_p.S112S	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	112					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CACAGGACTCCCCGCCACCCT	0.567000														136			70		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120702688	120702688	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:120702688C>T	uc001pxn.2	+	6	926	c.639C>T	c.(637-639)gcC>gcT	p.A213A	GRIK4_uc009zav.1_Silent_p.A213A|GRIK4_uc009zaw.1_Silent_p.A213A|GRIK4_uc009zax.1_Silent_p.A213A	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	213					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.A213T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	ACAAGACCGCCACCATCATCA	0.642000														161			13		0	0	1	0	0
ASCL1	429	broad.mit.edu	37	12	103352675	103352675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:103352675C>T	uc001tjr.4	+	0	1224	c.653C>T	c.(652-654)tCt>tTt	p.S218F	ASCL1_uc021rcu.1_Missense_Mutation_p.S218F	NM_004316	NP_004307	P50553	ASCL1_HUMAN	Homo sapiens achaete-scute complex homolog 1 (Drosophila) (ASCL1), mRNA.	218					Notch signaling pathway|cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	E-box binding|bHLH transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						GACGAGGGCTCTTACGACCCG	0.632000														41			14		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61525396	61525396	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61525396G>A	uc002ydr.2	-	11	3035	c.2723C>T	c.(2722-2724)cCt>cTt	p.P908L	DIDO1_uc002yds.2_Missense_Mutation_p.P908L|DIDO1_uc002ydt.2_Missense_Mutation_p.P908L|DIDO1_uc002ydu.2_Missense_Mutation_p.P908L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	908					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGCAACTTCAGGCACAGCCTC	0.532000														89			47		0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71471960	71471960	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71471960G>A	uc003hfl.3	+	12	958	c.857G>A	c.(856-858)aGg>aAg	p.R286K		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	286					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GGAGGCATGAGGCCCGGCTTT	0.537000														70			23		0	0	1	0	0
GHDC	84514	broad.mit.edu	37	17	40344692	40344693	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:40344692_40344693GG>AT	uc002hzd.3	-	3	939_940	c.455_456CC>AT	c.(454-456)gcc>gAT	p.A152D	GHDC_uc002hzg.2_Missense_Mutation_p.A152D|GHDC_uc010wgg.2_Missense_Mutation_p.A113D|GHDC_uc002hze.4_Missense_Mutation_p.A152D|GHDC_uc002hzf.4_Missense_Mutation_p.A152D|GHDC_uc010cxz.2_Non-coding_Transcript	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	152						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GCGTCACACGGGCAGTGCGTCC	0.639000														36			20		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51742772	51742772	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51742772G>A	uc002pwa.2	+	7	965	c.925_splice	c.e7-1	p.K309_splice	CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Splice_Site_p.K182_splice|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	309					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CTCTCCATAAGAAACACCAGA	0.502000														41			19		0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19105985	19105985	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19105985G>A	uc002nkz.1	-	8	3158	c.3138C>T	c.(3136-3138)tcC>tcT	p.S1046S	SUGP2_uc002nkx.2_Silent_p.S1032S|SUGP2_uc002nla.1_Silent_p.S1032S|SUGP2_uc002nlb.2_Silent_p.S1032S|SUGP2_uc010xqk.1_Silent_p.S801S	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	1032	G-patch.				RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTTTCCGAGGGAGCCCAGGC	0.642000														36			13		0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142537228	142537228	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:142537228G>A	uc003evd.3	-	8	1504	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	399	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TCTTGGTCTTGAACATCATGA	0.378000														84			32		0	0	1	0	0
PHYH	5264	broad.mit.edu	37	10	13325819	13325819	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:13325819G>A	uc001imf.3	-	6	787	c.699C>T	c.(697-699)ttC>ttT	p.F233F	PHYH_uc001ime.3_Silent_p.F133F	NM_006214	NP_001032626	O14832	PAHX_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA.	233					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GGATCCCGTGGAACATTTTGT	0.478000														427			39		0	0	1	0	0
CA5A	763	broad.mit.edu	37	16	87936081	87936081	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:87936081C>T	uc002fkn.1	-	3	561	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_001739	NP_001730	P35218	CAH5A_HUMAN	Homo sapiens carbonic anhydrase VA, mitochondrial (CA5A), nuclear gene encoding mitochondrial protein, mRNA.	169					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		ACGACAGCTTCCTTGTAATTT	0.393000														49			26		0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36564767	36564767	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:36564767G>A	uc001bzv.2	-	1	522	c.515C>T	c.(514-516)cCt>cTt	p.P172L	COL8A2_uc001bzw.2_Missense_Mutation_p.P107L	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	172	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGTTTTCCAGGGATAGTAAT	0.716000														6			6		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55142266	55142266	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55142266C>T	uc003pcl.3	+	4	1166	c.851C>T	c.(850-852)tCc>tTc	p.S284F	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	284					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)			CCAACGAAGTCCCGGATGAGC	0.502000														46			13		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117655926	117655926	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117655926C>T	uc001twn.2	-	28	5027	c.4316G>A	c.(4315-4317)cGa>cAa	p.R1439Q	NOS1_uc021ren.1_Missense_Mutation_p.R1069Q|NOS1_uc021reo.1_Missense_Mutation_p.R1069Q|NOS1_uc001twm.2_Missense_Mutation_p.R1405Q	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1405					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTCGTACGTTCGCAGGGTGAC	0.478000														292			78		0	0	1	0	0
FCGR2C	9103	broad.mit.edu	37	1	161569556	161569556	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161569556C>T	uc021pdi.1	+	6		c.1034C>T				NM_201563				Homo sapiens Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) (FCGR2C), mRNA.											lung(2)	2	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ATCTACCTGACTCTTCCTCCC	0.463000														76			45		0	0	1	0	0
WBSCR16	81554	broad.mit.edu	37	7	74470049	74470049	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:74470049G>A	uc003ubr.3	-	8	1316	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	WBSCR16_uc010lca.3_Missense_Mutation_p.S200F|WBSCR16_uc010lcb.1_Missense_Mutation_p.S397F	NM_030798	NP_110425	Q96I51	WBS16_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 16 (WBSCR16), mRNA.	397										kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TCGGATGCGGGAAACCTGGAT	0.537000														67			26		0	0	1	0	0
CLIC5	53405	broad.mit.edu	37	6	45882124	45882124	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:45882124C>T	uc003oxv.3	-	4	1012	c.906G>A	c.(904-906)aaG>aaA	p.K302K	CLIC5_uc003oxu.3_Silent_p.K143K|CLIC5_uc003oxw.3_Non-coding_Transcript|CLIC5_uc003oxx.3_Silent_p.K143K	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	302	GST C-terminal.				female pregnancy	Golgi apparatus|actin cytoskeleton|cell cortex|chloride channel complex|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						TCTTTAGAGCCTTGGTTAGGC	0.493000														108			12		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180056987	180056987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:180056987C>T	uc003mlz.4	-	4	711	c.632G>A	c.(631-633)gGa>gAa	p.G211E	FLT4_uc003mma.4_Missense_Mutation_p.G211E|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Missense_Mutation_p.G211E|FLT4_uc011dgz.1_Missense_Mutation_p.G211E|FLT4_uc011dha.1_Missense_Mutation_p.E195K	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	211	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTCCTGGTCTCCCCAGGTGGT	0.642000														36			25		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9449315	9449315	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9449315G>A	uc021wam.1	+	31	3325	c.3310G>A	c.(3310-3312)Gaa>Aaa	p.E1104K	PLCB4_uc010gbx.3_Missense_Mutation_p.E1116K|PLCB4_uc021wal.1_Missense_Mutation_p.E1104K|PLCB4_uc002wnh.3_Missense_Mutation_p.E951K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	1104					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGCAGAACGGGAAAGGTAAGT	0.418000														68			32		0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131195771	131195771	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:131195771C>T	uc003vqw.4	-	1	780	c.522G>A	c.(520-522)aaG>aaA	p.K174K	PODXL_uc003vqx.4_Silent_p.K174K	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	174	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GATGTTCTGCCTTAGTGGATG	0.547000														189			46		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632215	122632215	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122632215C>T	uc003efz.1	-	16	2641	c.2337G>A	c.(2335-2337)tgG>tgA	p.W779*	SEMA5B_uc011bju.1_Nonsense_Mutation_p.W721*|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Nonsense_Mutation_p.W779*|SEMA5B_uc010hro.1_Nonsense_Mutation_p.W721*|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	779					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCCACGGCGTCCAGGGGGTGT	0.716000														9			4		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74640034	74640034	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:74640034T>A	uc002lmi.3	+	24	4758	c.4560T>A	c.(4558-4560)tcT>tcA	p.S1520S	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1520					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCTCGGGGTCTCCACAGGAAA	0.498000														48			6		0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914801	94914801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94914801C>T	uc001ydd.1	-	1	371	c.311G>A	c.(310-312)gGa>gAa	p.G104E		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	104					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GAGGTTGAATCCCAGGCCCTC	0.587000														90			41		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101765820	101765820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:101765820G>A	uc004azb.1	+	7	1357	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	384	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCCACCGGGGGACCAACCCTC	0.597000														54			37		0	0	1	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490495	141490495	+	Missense_Mutation	SNP	C	T	T	rs146440743		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141490495C>T	uc003vwr.1	+	0	479	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.	112					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					GACCTTCGATCGCCCGGCCTA	0.483000														87			7		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62293078	62293078	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62293078A>G	uc001ntl.3	-	4	9111	c.8811T>C	c.(8809-8811)gtT>gtC	p.V2937V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2937					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCAATGTTAACATCAGGGC	0.517000														243			117		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610501	38610501	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38610501G>A	uc002ohk.3	+	8	3356	c.2847G>A	c.(2845-2847)agG>agA	p.R949R		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	949					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGACATAAGGGAGATAGTGC	0.532000														37			12		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450876	105450876	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:105450876C>T	uc022cca.1	+	0	1451	c.1451C>T	c.(1450-1452)tCt>tTt	p.S484F	MUM1L1_uc004emg.2_Missense_Mutation_p.S484F|MUM1L1_uc004emf.2_Missense_Mutation_p.S484F	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	484										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGTTGTGGTTCTTTCACGGGC	0.393000														26			14		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114120263	114120263	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:114120263C>T	uc003ibe.4	+	3	482	c.382C>T	c.(382-384)Cag>Tag	p.Q128*	ANK2_uc003ibd.4_Nonsense_Mutation_p.Q107*|ANK2_uc003ibf.4_Nonsense_Mutation_p.Q128*|ANK2_uc003ibc.2_Nonsense_Mutation_p.Q104*|ANK2_uc011cgb.1_Nonsense_Mutation_p.Q143*	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	128					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCACAGTCTCAGGTATTCCA	0.358000														52			19		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539571	56539571	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56539571C>T	uc002qmj.3	+	6	1972	c.1972C>T	c.(1972-1974)Ccc>Tcc	p.P658S	NLRP5_uc002qmi.3_Missense_Mutation_p.P639S	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	658						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGTCCCGTTCCCCTGGGGGT	0.587000														79			31		0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47685771	47685771	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47685771G>A	uc001cqx.2	-	3	1194	c.617C>T	c.(616-618)gCc>gTc	p.A206V	TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Missense_Mutation_p.A206V	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	206	Helix-loop-helix motif.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	p.G205G(1)		haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CTCGGCAAAGGCCCCGTTCAC	0.557000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									51			19		0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111096	55111096	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55111096C>T	uc010rie.2	+	0	420	c.420C>T	c.(418-420)atC>atT	p.I140I		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGGTTTGCATCCTTCTGTTGG	0.468000														122			59		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419850	10419850	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10419850G>A	uc002gmo.3	-	2	204	c.110C>T	c.(109-111)tCa>tTa	p.S37L	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	37	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACAAAGACTGATGTCTTGGC	0.522000														175			20		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140737029	140737029	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140737029C>T	uc003ljq.2	+	0	2262	c.2262C>T	c.(2260-2262)tcC>tcT	p.S754S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljs.2_5'Flank|PCDHGC5_uc003ljp.1_Silent_p.S754S|PCDHGC5_uc011dar.2_5'Flank	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	760					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D754D(1)		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)			AGACCTATTCCCACGAGGTCT	0.602000														123			27		0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53072390	53072390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53072390C>T	uc001sau.1	-	1	801	c.742G>A	c.(742-744)Gat>Aat	p.D248N	KRT1_uc001sav.1_Missense_Mutation_p.D248N	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	248	Coil 1B.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.D248N(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CGAGATTGATCACTCTTCAGT	0.473000														105			26		0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2132987	2132987	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:2132987G>A	uc003ger.2	-	14	1774	c.1762C>T	c.(1762-1764)Cag>Tag	p.Q588*	POLN_uc010icg.1_Nonsense_Mutation_p.Q36*|POLN_uc010ich.1_Nonsense_Mutation_p.Q120*	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	588					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GTAGTAATCTGAATTGGGTGC	0.343000								DNA polymerases (catalytic subunits)						95			8		0	0	1	0	0
ZNF8	7554	broad.mit.edu	37	19	58805887	58805887	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58805887C>T	uc002qry.1	+	3	843	c.713C>T	c.(712-714)tCc>tTc	p.S238F	ZNF8_uc002qrz.3_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	Homo sapiens zinc finger protein 8 (ZNF8), mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CACAGAGATTCCAGTCAGGCC	0.478000														59			15		0	0	1	0	0
TIFAB	497189	broad.mit.edu	37	5	134785468	134785469	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:134785468_134785469GG>AA	uc003law.4	-	1	362_363	c.161_162CC>TT	c.(160-162)tcc>tTT	p.S54F	C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Missense_Mutation_p.S54F	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.	54	FHA.									breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGACGGCGGGAGAGGCGAGG	0.658000														64			6		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27746305	27746305	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27746305G>A	uc002rky.3	+	18	1943	c.1877G>A	c.(1876-1878)tGa>tAa	p.*626*	GCKR_uc010ezd.3_Silent_p.*624*|GCKR_uc010ylu.2_Silent_p.*436*	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	0					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GACGTTCAGTGAACCCATGTT	0.612000														45			16		0	0	1	0	0
MS4A6A	64231	broad.mit.edu	37	11	59940507	59940507	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59940507G>A	uc010rla.2	-	6	1202	c.729C>T	c.(727-729)ttC>ttT	p.F243F	MS4A6A_uc001noq.3_3'UTR|MS4A6A_uc009ymv.3_Silent_p.F215F|MS4A6A_uc001not.3_Silent_p.F215F|MS4A6A_uc010rlb.2_Silent_p.F170F	NM_001247999	NP_001234928	Q9H2W1	M4A6A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA.	215						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCACCCCAGGGAAGTCAGAGT	0.507000														165			31		0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120169044	120169044	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:120169044G>A	uc021qrk.1	+	3	243	c.209G>A	c.(208-210)gGa>gAa	p.G70E	POU2F3_uc001pxc.3_Missense_Mutation_p.G68E|POU2F3_uc010rzk.2_Silent_p.R6R|POU2F3_uc010rzl.2_5'UTR	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	68					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CTGAGTCAAGGACCTGCCATG	0.522000														161			105		0	0	1	0	0
C3orf25	90288	broad.mit.edu	37	3	129123150	129123150	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:129123150G>A	uc003emg.3	-	6	1509	c.1346C>T	c.(1345-1347)tCt>tTt	p.S449F		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						CAGATTCGGAGAAAAGACCTT	0.572000														90			34		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124210210	124210210	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124210210C>T	uc003ehg.3	+	30	4749	c.4622C>T	c.(4621-4623)cCc>cTc	p.P1541L	KALRN_uc010hrv.1_Missense_Mutation_p.P1532L|KALRN_uc003ehf.1_Missense_Mutation_p.P1541L|KALRN_uc011bjy.1_Missense_Mutation_p.P1532L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1541	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAGGGCGATCCCTGCAAATTC	0.562000														46			16		0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89854527	89854527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:89854527C>T	uc010len.3	+	2	637	c.131C>T	c.(130-132)tCc>tTc	p.S44F	STEAP2_uc003ujy.2_Missense_Mutation_p.S86F|STEAP2_uc003uka.3_Missense_Mutation_p.S44F|STEAP2_uc003ujz.3_Missense_Mutation_p.S44F|STEAP2_uc003ukc.3_Missense_Mutation_p.S44F|STEAP2_uc003ukb.3_Missense_Mutation_p.S44F|STEAP2_uc003ukd.3_Missense_Mutation_p.S44F	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	44					Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTTGCCAAATCCTTGACCATT	0.388000														93			44		0	0	1	0	0
C3orf25	90288	broad.mit.edu	37	3	129137225	129137225	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:129137225G>A	uc003emg.3	-	2	716	c.553C>T	c.(553-555)Cct>Tct	p.P185S		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						GACAGGGCAGGGGGCTCGGGC	0.602000														30			11		0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157737078	157737078	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157737078C>T	uc001fre.2	-	5	1164	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	FCRL2_uc001frd.2_Missense_Mutation_p.E116K|FCRL2_uc010phz.1_Missense_Mutation_p.E369K|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	369	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTGTTGGCCTCACAGGAGTAG	0.567000														129			30		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72022776	72022776	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:72022776G>A	uc001swo.2	-	19	4227	c.3868C>T	c.(3868-3870)Cca>Tca	p.P1290S		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	1290					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAAAACTTTGGCTTCCACTTT	0.308000														42			10		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118375153	118375153	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118375153C>A	uc001pta.3	+	26	8560	c.8537C>A	c.(8536-8538)cCt>cAt	p.P2846H	MLL_uc001ptb.3_Missense_Mutation_p.P2849H	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2846					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AATATCCTGCCTTCAGACATT	0.428000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									150			46		1.06522e-23	1.07137e-23	1	1	0
C1orf127	148345	broad.mit.edu	37	1	11008269	11008269	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11008269C>T	uc010oao.2	-	11	1923	c.1923G>A	c.(1921-1923)atG>atA	p.M641I	C1orf127_uc001ars.2_Missense_Mutation_p.M476I|C1orf127_uc001arr.2_Missense_Mutation_p.M484I	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	492										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ATGAAAGGTCCATGTGCCCCC	0.647000														92			8		0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23600749	23600749	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23600749G>A	uc001wiz.3	-	7	1760	c.1034C>T	c.(1033-1035)gCc>gTc	p.A345V	SLC7A8_uc001wiw.3_5'Flank|SLC7A8_uc001wix.3_Missense_Mutation_p.A142V|SLC7A8_uc010tnk.2_Missense_Mutation_p.A121V|SLC7A8_uc010tnl.2_Missense_Mutation_p.A240V|SLC7A8_uc001wiy.3_Non-coding_Transcript|SLC7A8_uc010akj.3_Intron	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	345					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GCCCTCTCGGGCTCCAGCGAA	0.602000														35			10		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72085567	72085567	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:72085567C>T	uc001xms.3	+	2	1953	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	SIPA1L1_uc001xmt.3_Missense_Mutation_p.S531F|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S531F|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S531F|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S6F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	531					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAAAATGGATCTCCGTACAAC	0.403000														79			28		0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045040	55045040	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55045040C>T	uc010yfa.1	+	2		c.266C>T			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.									p.R54W(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TTCCCATCTTCGGTTTGTCAT	0.537000														29			13		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71490409	71490409	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:71490409C>T	uc003kbw.4	+	4	1468	c.1227C>T	c.(1225-1227)gtC>gtT	p.V409V	MAP1B_uc010iyw.1_Silent_p.V426V|MAP1B_uc010iyx.1_Silent_p.V283V|MAP1B_uc010iyy.1_Silent_p.V283V	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	409						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TTGATCCTGTCATTCTTTTCC	0.403000														104			26		0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25150165	25150165	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25150165G>A	uc003abd.1	-	7	1210	c.793C>T	c.(793-795)Ctt>Ttt	p.L265F	PIWIL3_uc011ajx.1_Missense_Mutation_p.L156F|PIWIL3_uc010gut.1_Missense_Mutation_p.L265F|PIWIL3_uc011ajy.1_Missense_Mutation_p.L156F	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	265					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACATAACCAAGCCAGATTTCC	0.403000														65			15		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784037	9784037	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:9784037C>T	uc003gmb.4	+	0	780	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	128					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.I128T(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTGCCTCCATCCTGAACCTGT	0.622000														40			6		0	0	1	0	0
LOC344967	344967	broad.mit.edu	37	4	40045360	40045360	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:40045360G>A	uc011byr.1	-	2	790	c.296C>T	c.(295-297)cCt>cTt	p.P99L						Homo sapiens acyl-CoA thioesterase 7 pseudogene (LOC344967), non-coding RNA.																		CACAACAGGAGGCTCTTCGAG	0.577000														17			12		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67129918	67129918	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:67129918G>A	uc002jhw.1	-	5	830	c.655C>T	c.(655-657)Cac>Tac	p.H219Y		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	219					transport	integral to membrane	ATP binding|ATPase activity	p.L218F(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCATTGTGAAGAAGATTT	0.313000														67			10		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21747441	21747441	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:21747441G>A	uc003svc.3	+	40	6723	c.6692G>A	c.(6691-6693)tGg>tAg	p.W2231*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2231	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACCCGAGAATGGAAAGATGGC	0.378000									Kartagener syndrome					44			4		0	0	1	0	0
FAIM3	9214	broad.mit.edu	37	1	207095173	207095173	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207095173G>A	uc001hey.3	-	0	206	c.27C>T	c.(25-27)taC>taT	p.Y9Y	FAIM3_uc010prz.2_Silent_p.Y9Y|FAIM3_uc021pif.1_Silent_p.Y9Y|FAIM3_uc010psa.2_5'UTR	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA.	9					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					CTGGCAGGAAGTAAAGTGGCC	0.507000														52			26		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30749771	30749772	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30749771_30749772CC>TT	uc002dze.1	+	33	8795_8796	c.8410_8411CC>TT	c.(8410-8412)ccc>TTc	p.P2804F	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P2599F	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2804	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)			ATCCTCCCCTCCCATTGGTGGG	0.644000														102			7		0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179193008	179193008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:179193008C>T	uc003mkm.3	+	1	1260	c.997C>T	c.(997-999)Cct>Tct	p.P333S	MAML1_uc003mkn.1_Missense_Mutation_p.P333S	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	333					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCTCTGCCCCTGTGAGTAC	0.602000														41			20		0	0	1	0	0
ZNF138	7697	broad.mit.edu	37	7	64292248	64292248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:64292248C>T	uc011kdq.2	+	2	726	c.550C>T	c.(550-552)Ctt>Ttt	p.L184F	ZNF138_uc003ttg.3_Missense_Mutation_p.L153F|ZNF138_uc003tth.3_Non-coding_Transcript|ZNF138_uc010kzs.3_Missense_Mutation_p.L178F|ZNF138_uc011kdp.2_3'UTR	NM_006524	NP_006515	B4DP87	B4DP87_HUMAN	Homo sapiens zinc finger protein 138 (ZNF138), transcript variant 1, mRNA.	184					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				GTCCACAAACCTTTCTAAACC	0.343000														40			15		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834561	101834561	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:101834561C>T	uc001pgm.3	+	5	3065	c.2795C>T	c.(2794-2796)cCc>cTc	p.P932L	KIAA1377_uc001pgn.3_Missense_Mutation_p.P888L|KIAA1377_uc010run.2_Missense_Mutation_p.P733L|KIAA1377_uc009yxa.1_Missense_Mutation_p.P733L	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	932							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAATCAGTTCCCTTATGGAAA	0.378000														114			49		0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1243834	1243835	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1243834_1243835GG>AA	uc003jby.2	+	8	1419_1420	c.1296_1297GG>AA	c.(1294-1299)gtgggg>gtAAgg	p.G433R		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	433					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.V434fs*11(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGCTGGACGTGGGGGTCCTGCC	0.653000														52			8		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115406706	115406706	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115406706C>T	uc001lal.3	-	9	1133	c.969G>A	c.(967-969)aaG>aaA	p.K323K	NRAP_uc001laj.3_Silent_p.K323K|NRAP_uc001lak.3_Silent_p.K323K	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	323						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CGTGAGCTTTCTTGGCGTTCT	0.522000														86			34		0	0	1	0	0
PLAU	5328	broad.mit.edu	37	10	75673453	75673453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:75673453C>T	uc001jwa.3	+	6	763	c.617C>T	c.(616-618)aCc>aTc	p.T206I	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Missense_Mutation_p.T189I|PLAU_uc010qkx.2_Missense_Mutation_p.T120I|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Missense_Mutation_p.T206I|PLAU_uc009xrq.1_Missense_Mutation_p.T170I	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	206	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	GGCTCTGTCACCTACGTGTGT	0.592000														98			32		0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236653459	236653459	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:236653459C>T	uc002vvs.3	+	4	1112	c.514C>T	c.(514-516)Cct>Tct	p.P172S	AGAP1_uc002vvt.3_Missense_Mutation_p.P172S|AGAP1_uc021vyp.1_Missense_Mutation_p.P172S	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	172	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GAGCGAGATTCCTCTGGTTCT	0.433000														52			19		0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93106913	93106913	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:93106913G>A	uc003umv.2	-	5	627	c.327C>T	c.(325-327)tcC>tcT	p.S109S	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Silent_p.S91S|CALCR_uc003umw.2_Silent_p.S91S	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	91					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.S91S(1)|p.S109S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	AGAACTGATAGGACAATACTC	0.423000														45			15		0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810929	65810929	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65810929G>A	uc001ogv.3	-	1	505	c.345C>T	c.(343-345)ttC>ttT	p.F115F	GAL3ST3_uc001ogw.3_Silent_p.F115F	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	115					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						CCGGGTGCACGAAGTGCGCCG	0.692000														30			4		0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189996	124189996	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124189996C>T	uc010sah.2	-	0	98	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		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;0.0525)		CACATATATTCCAAGGAACAG	0.463000														113			33		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600150	141600150	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:141600150C>T	uc010ioj.3	-	4	1069	c.797G>A	c.(796-798)cGa>cAa	p.R266Q		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	266						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GGGCAGGGATCGATCTTGTTC	0.418000														150			71		0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75533671	75533671	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:75533671C>T	uc004ajd.3	-	7	1132	c.815G>A	c.(814-816)gGa>gAa	p.G272E	ALDH1A1_uc011lsh.2_Missense_Mutation_p.G193E|ALDH1A1_uc011lsg.2_Missense_Mutation_p.G98E	NM_000689	NP_000680	P00352	AL1A1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	272					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	Ras GTPase activator activity|aldehyde dehydrogenase (NAD) activity|androgen binding|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	AGGGCTCTTTCCTCCAAGCTC	0.463000														91			16		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56089453	56089453	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:56089453G>A	uc010qhy.1	-	7	1018	c.623C>T	c.(622-624)aCc>aTc	p.T208I	PCDH15_uc010qhq.2_Missense_Mutation_p.T208I|PCDH15_uc010qhr.2_Missense_Mutation_p.T203I|PCDH15_uc021pqv.1_Missense_Mutation_p.T203I|PCDH15_uc021pqw.1_Missense_Mutation_p.T208I|PCDH15_uc010qht.2_Missense_Mutation_p.T203I|PCDH15_uc021pqx.1_Missense_Mutation_p.T203I|PCDH15_uc001jjv.1_Missense_Mutation_p.T181I|PCDH15_uc021pqy.1_Missense_Mutation_p.T203I|PCDH15_uc021pqz.1_Missense_Mutation_p.T181I|PCDH15_uc010qhv.1_Missense_Mutation_p.T203I|PCDH15_uc010qhw.1_Intron|PCDH15_uc010qhx.1_Missense_Mutation_p.T203I|PCDH15_uc010qhz.1_Missense_Mutation_p.T203I|PCDH15_uc010qia.1_Missense_Mutation_p.T181I|PCDH15_uc001jju.1_Missense_Mutation_p.T203I|PCDH15_uc010qib.1_Missense_Mutation_p.T181I|PCDH15_uc001jjw.3_Missense_Mutation_p.T203I	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	203	Cadherin 2.				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)				AATTTCAAAGGTGTCATTGGA	0.328000										HNSCC(58;0.16)				135			64		0	0	1	0	0
CHST6	4166	broad.mit.edu	37	16	75513171	75513171	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:75513171G>A	uc021tlj.1	-	0	556	c.556C>T	c.(556-558)Ccg>Tcg	p.P186S	CHST6_uc002fef.3_Missense_Mutation_p.P186S|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Missense_Mutation_p.P186S	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.	186					N-acetylglucosamine metabolic process|keratan sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTGAGCAGCGGGTAGAGCACC	0.701000														66			21		0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026719	182026719	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:182026719C>T	uc001goz.3	-	1	635	c.427G>A	c.(427-429)Gac>Aac	p.D143N	ZNF648_uc021pfu.1_Missense_Mutation_p.D143N	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGTAGTCGGTCCCCAAGAGGT	0.572000														65			25		0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179306689	179306689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:179306689G>A	uc003mlh.3	-	7	1390	c.1355C>T	c.(1354-1356)tCc>tTc	p.S452F	TBC1D9B_uc003mli.3_Missense_Mutation_p.S452F|TBC1D9B_uc003mlj.3_Missense_Mutation_p.S452F	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	452						integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGCCCTGGGATGCGGTTGG	0.672000														97			49		0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986446	51986446	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51986446C>T	uc002pwv.1	+	4	1032	c.1032C>T	c.(1030-1032)ctC>ctT	p.L344L		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	344	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGATGAACCTCTCGAGTCTTG	0.532000														112			37		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140780001	140780001	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140780001G>A	uc003lkf.2	+	0	2307	c.2307G>A	c.(2305-2307)ttG>ttA	p.L769L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.L769L|PCDHGC5_uc011dax.2_5'Flank|PCDHGC5_uc003lkh.2_5'Flank	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	781					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)			GTGAGCAATTGAGTTCAGGAC	0.438000														305			34		0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66112422	66112422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:66112422G>A	uc011dxu.1	-	6	1671	c.1133C>T	c.(1132-1134)cCt>cTt	p.P378L	EYS_uc003peq.3_Missense_Mutation_p.P378L|EYS_uc003per.1_Missense_Mutation_p.P378L|EYS_uc021zbn.1_Missense_Mutation_p.P378L	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	378	EGF-like 5.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTCCTCAAAGGAAATGACTC	0.279000														95			13		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189025997	189025997	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:189025997C>T	uc011cle.1	-	1	501	c.279G>A	c.(277-279)atG>atA	p.M93I	TRIML2_uc003izl.2_Missense_Mutation_p.M43I|TRIML2_uc011clf.1_Missense_Mutation_p.M93I	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	43							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)		TGACCTGAATCATCGCCATTC	0.358000														103			35		0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112998264	112998264	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:112998264C>T	uc003dzx.3	+	11	2603	c.1982C>T	c.(1981-1983)cCa>cTa	p.P661L	BOC_uc003dzy.3_Missense_Mutation_p.P661L|BOC_uc003dzz.3_Missense_Mutation_p.P662L|BOC_uc003eab.3_Missense_Mutation_p.P362L|BOC_uc003eac.3_5'Flank	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	661	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCCATCCCCCCATCGCGGCTG	0.627000														55			12		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12661513	12661513	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:12661513G>A	uc002gno.2	+	11	2613	c.2314G>A	c.(2314-2316)Gaa>Aaa	p.E772K	MYOCD_uc002gnn.2_Missense_Mutation_p.E724K|MYOCD_uc002gnp.1_Missense_Mutation_p.E676K|MYOCD_uc002gnq.2_Intron	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	724					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCCATCCTATGAAGATGCCGT	0.393000														36			21		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68934353	68934353	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:68934353G>A	uc003xxv.1	+	3	446	c.419G>A	c.(418-420)aGa>aAa	p.R140K	PREX2_uc003xxu.1_Missense_Mutation_p.R140K|PREX2_uc011lez.1_Missense_Mutation_p.R75K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	140	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.I139V(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AACAAAATAAGAACAATCCGG	0.328000														52			5		0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123664511	123664511	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:123664511C>T	uc021xrm.1	+	2	1845	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	BBS12_uc003ieu.3_Silent_p.I488I|BBS12_uc021xrn.1_Silent_p.I488I	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	488					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						ACAACAGAATCGCAATCTTAT	0.438000									Bardet-Biedl syndrome					88			15		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130312089	130312089	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130312089G>A	uc010htl.3	+	15	4494	c.4463G>A	c.(4462-4464)gGa>gAa	p.G1488E	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1488	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGAGATGAGGGATCTCAGGTA	0.363000														54			15		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857019	210857019	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:210857019C>T	uc001hib.2	-	10	2744	c.2574G>A	c.(2572-2574)tcG>tcA	p.S858S	KCNH1_uc001hic.2_Silent_p.S831S	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	858					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTGTCTCCATCGACTCAGCCT	0.592000														109			36		0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7794920	7794920	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7794920C>T	uc002mhp.4	-	6	681	c.612G>A	c.(610-612)ggG>ggA	p.G204G	CLEC4G_uc021uny.1_Silent_p.G192G	NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	Homo sapiens C-type lectin domain family 4, member G (CLEC4G), transcript variant 1, mRNA.	204	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CATCCAGGCCCCCAACGATCA	0.677000														10			6		0	0	1	0	0
PLAUR	5329	broad.mit.edu	37	19	44171764	44171764	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44171764G>A	uc002oxf.2	-	1	361	c.135C>T	c.(133-135)ctC>ctT	p.L45L	PLAUR_uc002oxd.2_Silent_p.L45L|PLAUR_uc002oxg.2_Silent_p.L45L	NM_002659	NP_002650	Q03405	UPAR_HUMAN	Homo sapiens plasminogen activator, urokinase receptor (PLAUR), transcript variant 1, mRNA.	45	UPAR/Ly6 1.				C-terminal protein lipidation|attachment of GPI anchor to protein|blood coagulation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	U-plasminogen activator receptor activity|enzyme binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	TGGTCCTGCAGAGGTCCTGTC	0.622000														50			20		0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4247875	4247875	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:4247875G>A	uc002cvz.4	-	3	314	c.301C>T	c.(301-303)Ccg>Tcg	p.P101S	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	560	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						ACACTCCACGGTCCCAGGAAC	0.423000														45			27		0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37602897	37602897	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37602897G>A	uc003ara.3	-	1	1008	c.946C>T	c.(946-948)Ctc>Ttc	p.L316F	SSTR3_uc003arb.3_Missense_Mutation_p.L316F|SSTR3_uc021wos.1_Missense_Mutation_p.L316F	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	316					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CGGTAGGAGAGGAAGCCATAA	0.657000														75			29		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9333729	9333729	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:9333729C>T	uc001qvl.3	-	15	1719	c.1690_splice	c.e15-1	p.V564_splice	PZP_uc009zgl.3_Splice_Site_p.V433_splice	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCAAATCCACCTGTGGGAAAT	0.522000														38			6		0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92401568	92401568	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:92401568G>A	uc003yez.3	+	15	1917	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	SLC26A7_uc003yex.3_Missense_Mutation_p.E560K|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.E560K	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	560	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.E560D(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCCTACAGAAGAAGCTTCACA	0.438000														173			86		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623364	100623364	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:100623364G>A	uc002taf.3	-	5	822	c.678C>T	c.(676-678)gcC>gcT	p.A226A	AFF3_uc002tag.3_Silent_p.A201A|AFF3_uc010fiq.1_Silent_p.A201A|AFF3_uc010yvr.1_Silent_p.A355A|AFF3_uc002tah.1_Silent_p.A226A|AFF3_uc010fir.1_Silent_p.A278A	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	201					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGGCCGCCATGGCAGGTGGCC	0.587000														85			37		0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81610660	81610660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:81610660G>A	uc001xvd.1	+	9	2414	c.2258G>A	c.(2257-2259)gGc>gAc	p.G753D		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	753					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	AAGAAGCAAGGCCAAATCTCA	0.403000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							99			34		0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220792011	220792011	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:220792011C>T	uc009xdw.3	+	8	1420	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	MARK1_uc001hmn.4_Missense_Mutation_p.R275C|MARK1_uc010pun.2_Missense_Mutation_p.R275C|MARK1_uc001hmm.4_Missense_Mutation_p.R253C	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	275	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGGGAAGTACCGTATTCCCTT	0.353000														109			10		0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141619380	141619380	+	Silent	SNP	G	A	A	rs143629932		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141619380G>A	uc003vwu.1	+	0	705	c.705G>A	c.(703-705)agG>agA	p.R235R		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R235R(2)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CTGGCCGGAGGAAATCCTTCT	0.502000														105			45		0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119228486	119228486	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:119228486G>A	uc001pwm.4	-	9	1777	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	USP2_uc001pwl.4_Silent_p.F285F|USP2_uc001pwn.4_Silent_p.F251F	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	494	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGATCTTTGGGAACCTCTGGA	0.498000														402			167		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134125725	134125725	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:134125725G>A	uc003ytw.3	+	43	7673	c.7632G>A	c.(7630-7632)caG>caA	p.Q2544Q	TG_uc010mdw.3_Silent_p.Q1303Q|TG_uc011ljb.2_Silent_p.Q913Q|TG_uc011ljc.2_Silent_p.Q677Q	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2544					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGCACTGCAGAATTCTCTGG	0.498000														75			24		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915289	119915289	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:119915289G>A	uc003vjj.1	+	0	1568	c.603G>A	c.(601-603)gcG>gcA	p.A201A		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	201					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)					CTGTCATCGCGAATGTGGTGG	0.572000														68			8		0	0	1	0	0
TRIM63	84676	broad.mit.edu	37	1	26393830	26393830	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26393830G>A	uc001bli.1	-	0	292	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	Homo sapiens tripartite motif containing 63 (TRIM63), mRNA.	52						cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|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;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CACTTACCTGGAAGATGTCAT	0.557000														27			12		0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	780476	780476	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:780476C>T	uc010krz.1	+	2	821	c.801C>T	c.(799-801)tcC>tcT	p.S267S	HEATR2_uc003siz.2_Silent_p.S135S	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	267							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CGGTGGCCTCCGTGGTGGGCG	0.642000														194			46		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2229538	2229538	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2229538C>T	uc009zdu.1	+	2	732	c.419C>T	c.(418-420)gCc>gTc	p.A140V	CACNA1C_uc001qkc.2_Missense_Mutation_p.A140V|CACNA1C_uc001qjz.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkd.2_Missense_Mutation_p.A140V|CACNA1C_uc001qke.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkf.2_Missense_Mutation_p.A140V|CACNA1C_uc009zdw.1_Missense_Mutation_p.A140V|CACNA1C_uc001qkg.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkh.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkl.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkj.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkk.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkn.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkm.2_Missense_Mutation_p.A140V|CACNA1C_uc001qko.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkp.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkq.2_Missense_Mutation_p.A140V|CACNA1C_uc001qku.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkr.2_Missense_Mutation_p.A140V|CACNA1C_uc001qks.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkt.2_Missense_Mutation_p.A140V|CACNA1C_uc009zdv.1_Missense_Mutation_p.A140V|CACNA1C_uc001qkb.2_Missense_Mutation_p.A140V|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc009zdx.1_Non-coding_Transcript	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	140					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AATTGTGTGGCCTTAGCGATC	0.403000														115			29		0	0	1	0	0
FERMT2	10979	broad.mit.edu	37	14	53326422	53326422	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:53326422C>T	uc001xac.3	-	14	1945	c.1759G>A	c.(1759-1761)Ggc>Agc	p.G587S	FERMT2_uc001xad.3_Missense_Mutation_p.G580S|FERMT2_uc001xae.3_Missense_Mutation_p.G580S|FERMT2_uc001xaf.3_Missense_Mutation_p.G587S	NM_001134999	NP_001128471	Q96AC1	FERM2_HUMAN	Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA.	580	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TCTTTTTTGCCCCCTTGGAAC	0.398000														27			7		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47405400	47405400	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:47405400C>T	uc002leb.2	-	23	3479	c.3191G>A	c.(3190-3192)cGa>cAa	p.R1064Q	MYO5B_uc002lea.2_Missense_Mutation_p.R205Q	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1064					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GTACCGGGATCGCTCCTCCTC	0.468000														60			23		0	0	1	0	0
AK058136	0	broad.mit.edu	37	4	110268668	110268668	+	RNA	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:110268668C>A	uc003hzi.1	-	7		c.1396G>T								Homo sapiens cDNA FLJ25407 fis, clone TST02904.																		ATTCAAGCTCCAACGAGCTTG	0.527000														25			11		6.40141e-05	6.4109e-05	1	1	0
MYO5B	4645	broad.mit.edu	37	18	47463690	47463690	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:47463690C>T	uc002leb.2	-	14	2118	c.1830G>A	c.(1828-1830)tcG>tcA	p.S610S	MYO5B_uc021ukb.1_Silent_p.S609S	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	610	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CGCTGATCTTCGAAGATGACC	0.532000														72			25		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121414256	121414256	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121414256G>A	uc001pxx.3	+	13	1815	c.1686_splice	c.e13-1	p.K562_splice		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	562					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CATTTGGGCAGATACAGTACC	0.473000														93			32		0	0	1	0	0
C2orf89	129293	broad.mit.edu	37	2	85097546	85097546	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:85097546C>T	uc010ysl.2	-	1	561	c.472G>A	c.(472-474)Gga>Aga	p.G158R	C2orf89_uc002sou.4_Missense_Mutation_p.G158R|C2orf89_uc010fgc.2_Missense_Mutation_p.G158R	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	158						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						TCCCAGTTTCCGGCAATAGCA	0.562000														98			26		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506753	37506753	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:37506753G>A	uc021ppc.1	+	32	3145	c.3046G>A	c.(3046-3048)Gct>Act	p.A1016T	ANKRD30A_uc001iza.1_Missense_Mutation_p.A1016T	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1072						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACTTGAACAGGCTCTCAGAAT	0.289000														54			11		0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17405782	17405782	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17405782G>A	uc001baf.3	-	10	1369	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	PADI2_uc010ocm.2_Silent_p.I313I|PADI2_uc001bag.1_Silent_p.I429I	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	429					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TCCCGATGAGGATGCGGCCAA	0.582000														51			14		0	0	1	0	0
FNDC4	64838	broad.mit.edu	37	2	27715556	27715556	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27715556C>T	uc002rkx.3	-	5	1052	c.646G>A	c.(646-648)Gga>Aga	p.G216R	IFT172_uc002rku.3_5'Flank|IFT172_uc002rkv.3_5'Flank|IFT172_uc010yls.2_5'Flank|IFT172_uc010ezc.3_5'Flank|IFT172_uc010ylt.1_5'Flank	NM_022823	NP_073734	Q9H6D8	FNDC4_HUMAN	Homo sapiens fibronectin type III domain containing 4 (FNDC4), mRNA.	216						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					ACTGGCCTTCCCTGAGGACTC	0.557000														144			35		0	0	1	0	0
MSANTD2	79684	broad.mit.edu	37	11	124637184	124637184	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124637184G>A	uc001qba.1	-	3	1591	c.1568C>T	c.(1567-1569)cCc>cTc	p.P523L	MSANTD2_uc001qaz.1_Missense_Mutation_p.P471L|MSANTD2_uc010sap.1_Missense_Mutation_p.P243L|MSANTD2_uc001qay.1_Missense_Mutation_p.P293L	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN	Homo sapiens chromosome 11 open reading frame 61 (C11orf61), mRNA.	523																	GATGGATTTGGGGGAAACTCC	0.408000														105			45		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8610561	8610561	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8610561G>A	uc002mkg.3	-	12	1467	c.1329C>T	c.(1327-1329)gtC>gtT	p.V443V		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	443	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGTCACAGACGACCTTGTTGT	0.572000														321			71		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61465948	61465948	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61465948G>A	uc002ljl.3	+	5	661	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	SERPINB7_uc002ljm.3_Missense_Mutation_p.E189K|SERPINB7_uc010xet.2_Missense_Mutation_p.E172K|SERPINB7_uc010dqg.3_Missense_Mutation_p.E189K	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	189					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CACCAAGAGCGAAACCATAAA	0.423000														85			40		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54893190	54893190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54893190G>A	uc001sgc.4	+	1	233	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.E2K	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	52					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AAAGTCCATGGAACCATCTCT	0.418000														91			42		0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61886222	61886222	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61886222C>T	uc002jbu.3	+	10	1323	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*	DDX42_uc002jbv.3_Nonsense_Mutation_p.R356*|DDX42_uc002jbw.1_Nonsense_Mutation_p.R92*|DDX42_uc002jbx.3_Nonsense_Mutation_p.R92*|DDX42_uc002jby.3_5'Flank	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	356	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						ATATAATCTTCGATCAGTGGC	0.443000														119			29		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27745364	27745364	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27745364G>A	uc002rky.3	+	17	1676	c.1610G>A	c.(1609-1611)aGc>aAc	p.S537N	GCKR_uc010ezd.3_Missense_Mutation_p.S535N|GCKR_uc010ylu.2_Missense_Mutation_p.S347N	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	537					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TGCATCGAGAGCCTCCTCCGA	0.527000														85			23		0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947971	145947971	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145947971G>A	uc003zdv.4	-	4	1330	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		AGCTTCGACTGAAGGCCTTCC	0.507000														72			22		0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50144242	50144242	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:50144242C>T	uc003cyg.3	+	10	1073	c.898C>T	c.(898-900)Cct>Tct	p.P300S	RBM5_uc011bdj.2_Missense_Mutation_p.P244S|RBM5_uc011bdk.2_Missense_Mutation_p.P128S	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	300	RRM 2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTCCATCCTCCTTTGAAAAT	0.388000														74			33		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141598235	141598235	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:141598235T>A	uc010ioj.3	-	5	1144	c.872A>T	c.(871-873)aAg>aTg	p.K291M		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	291						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TCTCTCACTCTTTGCCCTGGC	0.423000														95			46		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534823	55534823	+	Silent	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55534823A>T	uc003xsd.1	+	2	910	c.762A>T	c.(760-762)ggA>ggT	p.G254G	RP1_uc011ldy.1_Silent_p.G254G	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	254					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.G254*(1)|p.G254E(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCCCAAGGGAAATGCAAAGT	0.413000														63			23		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321602	56321602	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56321602G>A	uc010ygf.2	-	4	1085	c.374C>T	c.(373-375)tCg>tTg	p.S125L	NLRP11_uc002qlz.3_Missense_Mutation_p.S26L|NLRP11_uc002qmb.3_Missense_Mutation_p.S26L|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	125							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CACATCTGACGAAACGTCACG	0.383000														46			23		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76556101	76556101	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:76556101C>T	uc002fex.1	+	15	2850	c.2711C>T	c.(2710-2712)cCc>cTc	p.P904L	CNTNAP4_uc002feu.1_Missense_Mutation_p.P900L|CNTNAP4_uc002fev.1_Missense_Mutation_p.P765L|CNTNAP4_uc010chb.1_Missense_Mutation_p.P828L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	901	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AAGACACAGCCCGCCCCCGCT	0.493000														75			8		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230902211	230902211	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:230902211G>A	uc002vqd.2	-	4	1877	c.1418C>T	c.(1417-1419)tCc>tTc	p.S473F	FBXO36_uc010fxi.1_Intron	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	473						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TATGTAGAAGGAAAAATCATA	0.323000														47			20		0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64136112	64136112	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:64136112G>A	uc001jmc.2	+	1	475	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	ZNF365_uc001jly.4_Missense_Mutation_p.E69K|ZNF365_uc001jmb.4_Missense_Mutation_p.E54K|ZNF365_uc001jlz.4_Missense_Mutation_p.E54K|ZNF365_uc001jma.4_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCACAGCTACGAAGAAAGAAC	0.498000														31			8		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065523	35065523	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35065523G>A	uc003jjm.3	-	9	2096	c.1537C>T	c.(1537-1539)Cac>Tac	p.H513Y	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.H412Y|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	513					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.H513Y(2)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTGACCTTGTGAATCTCCACA	0.502000														90			46		0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86123537	86123537	+	Missense_Mutation	SNP	G	A	A	rs148008941	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:86123537G>A	uc001pbx.2	+	10	1755	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	CCDC81_uc001pbw.2_Missense_Mutation_p.E353K|CCDC81_uc010rtq.2_Missense_Mutation_p.E226K|CCDC81_uc001pby.2_Missense_Mutation_p.E178K	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	443										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ACAGGAAAACGAAATAAAGCA	0.453000														65			36		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75969356	75969356	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:75969356C>T	uc003kek.3	+	24	3373	c.3151C>T	c.(3151-3153)Ctg>Ttg	p.L1051L	IQGAP2_uc011csv.2_Silent_p.L547L|IQGAP2_uc003kel.3_Silent_p.L547L|IQGAP2_uc010izw.1_5'Flank	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1051	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CATTGAGAACCTGAGAAGGGT	0.418000														117			10		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31587038	31587038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:31587038C>T	uc002rnv.1	-	23	2696	c.2617G>A	c.(2617-2619)Gat>Aat	p.D873N		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	873					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGAGAGAGATCCTGGGTGTTC	0.572000														51			17		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877827	130877827	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:130877827C>T	uc010fmh.2	-	2	662	c.262G>A	c.(262-264)Gac>Aac	p.D88N		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	88						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ATAGCAGAGTCGTCGTGGTCT	0.617000														371			21		0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060098	16060099	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16060098_16060099CC>TT	uc010xov.2	+	0	281_282	c.281_282CC>TT	c.(280-282)acc>aTT	p.T94I		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CATTCCATCACCTTTGTGGCTT	0.510000														303			95		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186545156	186545156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:186545156G>A	uc003iyg.3	-	12	1789	c.1757C>T	c.(1756-1758)tCc>tTc	p.S586F	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.S572F|SORBS2_uc003iyl.3_Missense_Mutation_p.S472F|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.S376F|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	472						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGACTTCACGGAGCAGATCAC	0.607000														83			32		0	0	1	0	0
SSX3	10214	broad.mit.edu	37	X	48206962	48206962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:48206962C>T	uc004djd.1	-	6	638	c.544G>A	c.(544-546)Gat>Aat	p.D182N		NM_021014	NP_066294	Q99909	SSX3_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						TCCTCAGGATCGCTGATCTCT	0.483000														125			166		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64769444	64769444	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:64769444C>T	uc003jtp.3	-	1	871	c.57G>A	c.(55-57)tcG>tcA	p.S19S	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.	19					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S19S(1)		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)		TATGAAATTCCGATGAAGCCA	0.363000														128			45		0	0	1	0	0
RAB38	23682	broad.mit.edu	37	11	87847224	87847224	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:87847224G>A	uc001pcj.2	-	2	651	c.568C>T	c.(568-570)Ccg>Tcg	p.P190S		NM_022337	NP_071732	P57729	RAB38_HUMAN	Homo sapiens RAB38, member RAS oncogene family (RAB38), mRNA.	190					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACGACGTCCGGCTCAATAGAC	0.468000														142			41		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43332497	43332497	+	Silent	SNP	G	A	A	rs139545553	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43332497G>A	uc002yzw.3	-	6	1139	c.897C>T	c.(895-897)ttC>ttT	p.F299F	C2CD2_uc002yzu.3_Silent_p.F131F|C2CD2_uc002yzv.3_Silent_p.F144F|C2CD2_uc002yzx.1_Silent_p.F144F	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	299	C2.					cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GGGTGCTGGAGAACCTCTGAA	0.498000														12			11		0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39158831	39158831	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:39158831C>T	uc003oon.3	-	4	1699	c.1335G>A	c.(1333-1335)ggG>ggA	p.G445G		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	445					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						GGCTCTCCTCCCCTGCCAAGT	0.627000														24			10		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904960	55904960	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55904960G>A	uc010riz.2	-	0	235	c.235C>T	c.(235-237)Cct>Tct	p.P79S		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79N(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGCATTTTAGGGGCAATGACA	0.418000														102			56		0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66998585	66998585	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:66998585C>T	uc002eqt.3	+	5	853	c.774C>T	c.(772-774)atC>atT	p.I258I	CES3_uc010cdz.3_Silent_p.I258I|CES3_uc010viw.2_5'Flank	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	258						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GTGGGGTCATCACCACCCCAG	0.587000														96			28		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25406065	25406065	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25406065G>A	uc001upr.3	+	17	2472	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K	RNF17_uc010tdd.1_Missense_Mutation_p.E670K|RNF17_uc010tde.2_Missense_Mutation_p.E811K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E750K|RNF17_uc010aac.3_Missense_Mutation_p.E9K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	811					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)		AGAAGCTAAAGAAAAATTTGA	0.289000														39			23		0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56910937	56910937	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:56910937G>A	uc003xsk.4	+	10	1365	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	LYN_uc003xsl.4_Silent_p.K340K	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	361	Protein kinase.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TCGAGCGGAAGAACTACATTC	0.448000														48			16		0	0	1	0	0
DQ585850	0	broad.mit.edu	37	9	34133398	34133398	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:34133398C>T	uc003ztv.1	+	1		c.1_splice	c.e1-1		DQ574810_uc022bfx.1_5'Flank					Homo sapiens piRNA piR-43529, complete sequence.																		TCACCTTATCCCCCTTGCTGA	0.557000														33			6		0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49848490	49848490	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49848490C>T	uc003cxr.3	-	9	1328	c.1157G>A	c.(1156-1158)tGg>tAg	p.W386*		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	386	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAAGTAAAGCCACTGGTCCAG	0.602000														41			15		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131027	72131027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:72131027G>A	uc004ahh.2	-	1	1376	c.1100C>T	c.(1099-1101)tCg>tTg	p.S367L		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	367					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGTGTAAGGCGAACGGATGGT	0.617000														78			29		0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57221519	57221519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:57221519G>A	uc010lyk.1	-	3	1171	c.533C>T	c.(532-534)tCa>tTa	p.S178L	SDR16C5_uc003xsy.1_Missense_Mutation_p.S178L|SDR16C5_uc010lyl.1_Missense_Mutation_p.S134L	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	178					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TAATCCAGCTGAACTTGAAAT	0.333000														51			28		0	0	1	0	0
ANXA2	302	broad.mit.edu	37	9	33624284	33624284	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:33624284C>T	uc010mjx.3	+	0	62	c.13C>T	c.(13-15)Cac>Tac	p.H5Y		NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	5	S100A10-binding site (Potential).				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	GTCTACTGTTCACGAAATCCT	0.527000											OREG0019140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			17		0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122677421	122677421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:122677421G>A	uc009zxm.3	+	6	1244	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	LRRC43_uc001ubw.4_Missense_Mutation_p.E222K|LRRC43_uc009zxn.3_Missense_Mutation_p.E168K	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	407	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GTCTGAGGTGGAGGAGTCAGG	0.547000														42			20		0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281254	49281254	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:49281254G>A	uc010acw.1	+	1	591	c.301G>A	c.(301-303)Ggc>Agc	p.G101S	CYSLTR2_uc010acx.1_Missense_Mutation_p.G101S|CYSLTR2_uc010acy.1_Missense_Mutation_p.G101S|CYSLTR2_uc010acz.1_Missense_Mutation_p.G101S|CYSLTR2_uc010ada.1_Missense_Mutation_p.G101S|CYSLTR2_uc010adb.1_Missense_Mutation_p.G101S|CYSLTR2_uc010adc.1_Missense_Mutation_p.G101S|CYSLTR2_uc010add.1_Missense_Mutation_p.G101S|CYSLTR2_uc001vck.2_Missense_Mutation_p.G101S|CYSLTR2_uc021rjl.1_Missense_Mutation_p.G101S	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	101					immune response	integral to membrane|plasma membrane		p.R100K(1)		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TTATCTTAGAGGCTCCAATTG	0.428000														51			28		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34164423	34164424	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34164423_34164424CC>TT	uc001bxm.1	-	23	4031_4032	c.3854_3855GG>AA	c.(3853-3855)cgg>cAA	p.R1285Q	CSMD2_uc001bxn.1_Missense_Mutation_p.R1245Q|CSMD2_uc001bxo.1_Missense_Mutation_p.R158Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1245	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTCACTACCCCGCAGGCTGTA	0.609000														105			10		0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691277	26691277	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26691277G>A	uc001bmg.1	-	3	878	c.760C>T	c.(760-762)Ctt>Ttt	p.L254F	ZNF683_uc001bmh.1_Missense_Mutation_p.L254F|ZNF683_uc009vsj.1_Missense_Mutation_p.L254F	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGGTAGGGAAGCAGGGTCTCC	0.652000														43			34		0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167525098	167525098	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:167525098C>T	uc003ffa.4	+	5	1146	c.948C>T	c.(946-948)ttC>ttT	p.F316F	SERPINI1_uc003ffb.4_Silent_p.F316F	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	316					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CTGAAATTTTCATCAAAGATG	0.294000														100			15		0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91498068	91498068	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:91498068G>A	uc001tbm.3	-	2	1280	c.891C>T	c.(889-891)atC>atT	p.I297I		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	297					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						ATGGCCCCAGGATCTTGCAGA	0.368000														50			17		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118230475	118230475	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:118230475C>T	uc004era.4	-	7	1248	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	416										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GAAGGTTCTTCTTTTGTTTGC	0.463000														11			13		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038664	75038664	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75038664G>A	uc001dgg.3	-	13	2949	c.2730C>T	c.(2728-2730)gcC>gcT	p.A910A		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	910	Glu-rich.									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						CCAAGTTCAGGGCTGCTGCTT	0.542000														227			77		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129498871	129498871	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:129498871C>T	uc021zfb.1	+	9	1432	c.1327C>T	c.(1327-1329)Cat>Tat	p.H443Y	LAMA2_uc003qbn.3_Missense_Mutation_p.H443Y|LAMA2_uc003qbo.3_Missense_Mutation_p.H443Y	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	443	Laminin EGF-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGATCCTGTCATTGCAAAAC	0.443000														34			18		0	0	1	0	0
ZRSR1	7310	broad.mit.edu	37	5	112227676	112227676	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:112227676G>A	uc021ycm.1	+	0	368	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	SRP19_uc011cvu.2_3'UTR|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron					RecName: Full=U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; AltName: Full=CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1; AltName: Full=U2(RNU2) small nuclear RNA auxiliary factor 1-like 1;											breast(1)|skin(1)|stomach(2)	4						aaagttaaaggaacaatggaa	0.428000														32			9		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70049412	70049412	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70049412C>T	uc001svg.3	-	9	1509	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.D215N|BEST3_uc010stm.2_Missense_Mutation_p.D322N	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	428						chloride channel complex|plasma membrane	chloride channel activity	p.D428N(1)|p.D215N(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGGCTGAGGTCATCTCGGGGT	0.592000														90			25		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904282	5904282	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:5904282G>A	uc002wmg.3	+	3	1798	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	CHGB_uc010zqz.2_Missense_Mutation_p.E181K	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	498						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AAACAGGGAGGAAGCTAGGTT	0.488000														62			28		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119926647	119926647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:119926647C>T	uc001txe.3	+	4	998	c.533C>T	c.(532-534)cCt>cTt	p.P178L	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	178								p.K177R(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ACCATGAAGCCTGTGATCACC	0.547000														60			26		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27703020	27703021	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:27703020_27703021GG>AA	uc001itu.2	-	0	277_278	c.159_160CC>TT	c.(157-162)tccccc>tcTTcc	p.P54S		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	54					spermatid development	integral to membrane	hedgehog receptor activity	p.P54P(1)|p.S53F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GAGGGTTCGGGGGATTTCGGGG	0.693000														82			35		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125284948	125284948	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:125284948C>T	uc010flu.3	+	9	1928	c.1564C>T	c.(1564-1566)Cag>Tag	p.Q522*	CNTNAP5_uc002tno.3_Nonsense_Mutation_p.Q521*	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	521	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TATTGATAACCAGCCCAAGGA	0.443000														77			31		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130282378	130282378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130282378G>A	uc010htl.3	+	1	562	c.531G>A	c.(529-531)atG>atA	p.M177I		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	177	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAAGGCCATGGCCACGTCTC	0.463000														68			8		0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725176	158725176	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158725176A>T	uc001fsw.1	+	0	571	c.571A>T	c.(571-573)Att>Ttt	p.I191F		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GATTGCATGGATTTCCACCTT	0.483000														70			35		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677031	73677031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:73677031C>T	uc002sje.1	+	7	3485	c.3374C>T	c.(3373-3375)gCt>gTt	p.A1125V	ALMS1_uc002sjf.1_Missense_Mutation_p.A1083V|ALMS1_uc002sjg.3_Missense_Mutation_p.A513V|ALMS1_uc002sjh.1_Missense_Mutation_p.A513V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1125	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATTTCAGTAGCTCCTGGACTA	0.473000														227			50		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63547747	63547747	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:63547747G>A	uc002lkb.3	+	11	2401	c.1975G>A	c.(1975-1977)Gga>Aga	p.G659R	CDH7_uc002ljz.3_Missense_Mutation_p.G659R	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	659					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGAGGGCGGGGGAGAGGAGGA	0.478000														70			23		0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8757986	8757986	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8757986C>T	uc001qur.2	-	2	331	c.252G>A	c.(250-252)tgG>tgA	p.W84*	AICDA_uc001qup.1_Nonsense_Mutation_p.W79*|AICDA_uc001quq.1_Nonsense_Mutation_p.W79*|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	84					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AGCAGGGGCTCCAGGAGGTGA	0.617000														51			22		0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109103343	109103343	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:109103343C>T	uc003kou.1	+	5	1906	c.943C>T	c.(943-945)Cat>Tat	p.H315Y		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	315					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CCAGAGAGTTCATTATGCAGT	0.423000														139			62		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55493706	55493706	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55493706C>T	uc021vbq.1	+	5	751	c.640C>T	c.(640-642)Cct>Tct	p.P214S	NLRP2_uc010yfp.2_Missense_Mutation_p.P191S|NLRP2_uc002qij.3_Missense_Mutation_p.P214S|NLRP2_uc010esp.3_Missense_Mutation_p.P192S|NLRP2_uc010esn.3_Missense_Mutation_p.P190S|NLRP2_uc010eso.3_Missense_Mutation_p.P211S	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	214	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCTGTATGGTCCTGCAGGCCT	0.532000														76			29		0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27360859	27360859	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27360859G>T	uc002rjb.2	-	2	919	c.339C>A	c.(337-339)ccC>ccA	p.P113P	C2orf53_uc021vfb.1_Silent_p.P113P	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	113	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					agtggttggagggagaggatg	0.577000														17			5		0.014758	0.0147616	1	1	0
OR4A15	81328	broad.mit.edu	37	11	55136211	55136211	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55136211C>T	uc010rif.2	+	0	852	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CCTGTATCTTCTTGTATGCAA	0.408000														257			79		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137593095	137593095	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:137593095C>T	uc004cfe.3	+	3	952	c.570C>T	c.(568-570)ttC>ttT	p.F190F		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	190	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCACCAAATTCCTCGACCGCA	0.512000														28			7		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212752	62212752	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:62212752G>A	uc003xuh.3	+	1	690	c.366G>A	c.(364-366)ctG>ctA	p.L122L	CLVS1_uc003xug.2_Silent_p.L122L|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	122	CRAL-TRIO.				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						AGAGGGCTCTGATCGATGGGT	0.488000														52			15		0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46365631	46365631	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:46365631G>A	uc002xto.3	-	2	561	c.231C>T	c.(229-231)caC>caT	p.H77H	SULF2_uc002xtr.3_Silent_p.H77H|SULF2_uc002xtq.3_Silent_p.H77H|SULF2_uc010ghv.1_Silent_p.H77H	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	77					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						CGTTGATGAAGTGCGCCCCGC	0.597000														75			7		0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903121	4903121	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4903121C>T	uc010qyp.2	+	0	73	c.73C>T	c.(73-75)Caa>Taa	p.Q25*		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		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)		TCAGTGTCTTCAACCAACCAT	0.338000														55			21		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104778670	104778670	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:104778670G>A	uc003ylp.3	+	2	742	c.603G>A	c.(601-603)gtG>gtA	p.V201V		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.	232					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.S200L(1)		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)			TACCTGCAGTGGAGAAAAGTC	0.473000										HNSCC(12;0.0054)				61			14		0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37903940	37903940	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37903940G>A	uc003asx.1	-	5	1104	c.1087C>T	c.(1087-1089)Ctg>Ttg	p.L363L	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_Silent_p.L77L|CARD10_uc003asy.1_Silent_p.L363L	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	363					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TTGAGCCGCAGGTCTTCCATC	0.627000														88			23		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57347137	57347137	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57347137G>A	uc001cyo.2	+	4	616	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	162	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CCTGACCCAGGAAGATGCTCA	0.458000														93			37		0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113221964	113221964	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113221964C>T	uc001pnv.3	+	14	1374	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	TTC12_uc001pnu.3_Silent_p.F417F|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Silent_p.F267F	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	417							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TCAACAGATTCCAAGTCTGGT	0.423000														45			14		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186544533	186544533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:186544533C>T	uc003iyg.3	-	12	2412	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.E780K|SORBS2_uc003iyl.3_Missense_Mutation_p.E680K|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.E584K|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	680						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCGGTGTTTTCGTGTCTGGCT	0.522000														153			43		0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61745770	61745770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:61745770G>A	uc011cqr.2	+	3	506	c.376G>A	c.(376-378)Gag>Aag	p.E126K	IPO11_uc003jtc.3_Missense_Mutation_p.E86K	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	86						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CTCAGAGGAGGAGAAAACTAC	0.328000														78			25		0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935344	151935344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151935344G>A	uc022chl.1	-	0	823	c.823C>T	c.(823-825)Cca>Tca	p.P275S	MAGEA3_uc004fgp.3_Missense_Mutation_p.P275S	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	275	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGCCCTTGGACCCCACAGG	0.532000														52			73		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34030707	34030707	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34030707G>A	uc001zhi.3	+	49	7642	c.7572G>A	c.(7570-7572)tgG>tgA	p.W2524*	RYR3_uc010bar.3_Nonsense_Mutation_p.W2524*	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2524	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTCAGGATGGGGGAGCTACG	0.512000											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			22		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965258	88965258	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:88965258G>A	uc011khi.2	+	3	3500	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	988						intracellular	zinc ion binding	p.E988E(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTATGCAAGTGAGAGCAGAAA	0.398000										HNSCC(36;0.09)				71			38		0	0	1	0	0
ZSCAN23	222696	broad.mit.edu	37	6	28403922	28403922	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28403922G>A	uc003nli.4	-	1	303	c.122C>T	c.(121-123)cCt>cTt	p.P41L	ZSCAN23_uc003nlh.2_Non-coding_Transcript|ZSCAN23_uc010jrf.1_Intron|ZSCAN23_uc011dli.2_Missense_Mutation_p.P41L	NM_001012455	NP_001012458	Q3MJ62	ZSC23_HUMAN	Homo sapiens zinc finger and SCAN domain containing 23 (ZSCAN23), mRNA.	41					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|prostate(1)|stomach(2)	4						TCTGGTATGAGGGTTATTTCT	0.537000														10			4		0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373155	86373155	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:86373155G>A	uc010sum.2	-	5	1580	c.1421C>T	c.(1420-1422)cCa>cTa	p.P474L	MGAT4C_uc001tal.4_Missense_Mutation_p.P450L|MGAT4C_uc001taj.4_Missense_Mutation_p.P450L|MGAT4C_uc001tak.4_Missense_Mutation_p.P450L|MGAT4C_uc001tai.4_Missense_Mutation_p.P450L|MGAT4C_uc001tah.4_Missense_Mutation_p.P450L	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	450					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TATATCAAATGGAATTTTTTG	0.313000														48			10		0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	130011906	130011906	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:130011906C>T	uc010sby.2	+	16	2284	c.2127C>T	c.(2125-2127)atC>atT	p.I709I	APLP2_uc001qfp.3_Silent_p.I697I|APLP2_uc001qfq.3_Silent_p.I641I|APLP2_uc010sbz.2_Silent_p.I497I|APLP2_uc001qfr.3_Silent_p.I463I|APLP2_uc001qfs.3_Silent_p.I468I|APLP2_uc021qsg.1_Silent_p.I707I|APLP2_uc001qfv.3_Silent_p.I600I|APLP2_uc009zcv.3_Silent_p.I57I	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	709					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CCACGGTCATCGTCATCAGCC	0.602000														23			13		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8619417	8619417	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8619417C>T	uc002mkg.3	-	3	408	c.270G>A	c.(268-270)acG>acA	p.T90T	MYO1F_uc010xkf.2_Silent_p.T90T	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	90	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ACATGTTGTCCGTGAGGGCGT	0.622000														123			35		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90500731	90500731	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90500731C>T	uc004app.4	+	3	1364	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L	FAM75E1_uc004apo.1_Silent_p.L255L	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	443						integral to membrane											TCTGGGACCTCCCCTCTCTCA	0.562000														182			23		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7611736	7611736	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:7611736G>A	uc021pmv.1	-	11	2150	c.2044C>T	c.(2044-2046)Ccc>Tcc	p.P682S	ITIH5_uc021pmu.1_Missense_Mutation_p.P468S	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	682					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ACAAAGTGGGGATCACCATCC	0.493000														25			6		0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	137028077	137028077	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:137028077G>A	uc010jek.3	-	4	867	c.423C>T	c.(421-423)gaC>gaT	p.D141D	KLHL3_uc003lbr.4_Silent_p.D59D|KLHL3_uc011cyd.2_Non-coding_Transcript|MYOT_uc011cye.2_Intron|KLHL3_uc010jem.1_Silent_p.D101D|KLHL3_uc010jen.1_Non-coding_Transcript|KLHL3_uc003lbs.1_Silent_p.D9D	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	141						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		ACTGCAGGAAGTCACAGCAGT	0.552000														33			7		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3679990	3679990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3679990C>T	uc002wja.3	-	6	1645	c.1645G>A	c.(1645-1647)Gga>Aga	p.G549R	SIGLEC1_uc002wiz.4_Missense_Mutation_p.G549R	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	549	Ig-like C2-type 5.				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						AGCAGGGCTCCATTCAGGTAC	0.687000														16			5		0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33612897	33612897	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:33612897C>T	uc021qfs.1	+	10	3914	c.3790C>T	c.(3790-3792)Cct>Tct	p.P1264S	C11orf41_uc001mun.1_Intron	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1264						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						TAGAGATGCTCCTCAGGAAAG	0.557000														46			5		0	0	1	0	0
NPFFR1	64106	broad.mit.edu	37	10	72026113	72026113	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72026113G>A	uc021psj.1	-	1	60	c.42C>T	c.(40-42)ccC>ccT	p.P14P		NM_022146	NP_071429	Q9GZQ6	NPFF1_HUMAN	Homo sapiens neuropeptide FF receptor 1 (NPFFR1), mRNA.	14						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						TCTGACTTAGGGGCCAACTGC	0.537000														15			8		0	0	1	0	0
CXCL11	6373	broad.mit.edu	37	4	76956249	76956249	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:76956249C>T	uc003hjm.3	-	2	422	c.212G>A	c.(211-213)gGa>gAa	p.G71E	ART3_uc003hji.3_Intron|ART3_uc003hjj.3_Intron|ART3_uc003hjk.3_Intron	NM_005409	NP_005400	O14625	CXL11_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 11 (CXCL11), mRNA.	71				NKGQ -> IRK (in Ref. 1; AAB17374).	cell-cell signaling|chemotaxis|inflammatory response|signal transduction	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCATCGTTGTCCTTTATTTTC	0.328000														89			34		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86270675	86270675	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:86270675C>T	uc002blv.1	+	28	7238	c.7068C>T	c.(7066-7068)acC>acT	p.T2356T	AKAP13_uc002blu.1_Silent_p.T2360T|AKAP13_uc010bnf.1_Silent_p.T977T|AKAP13_uc002blw.1_Silent_p.T821T|AKAP13_uc002blx.1_Silent_p.T601T	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2356	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGTTGGACACCAGAGCCCGAG	0.438000														93			21		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1920052	1920052	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1920052C>T	uc001aim.1	-	3	351	c.195G>A	c.(193-195)aaG>aaA	p.K65K	KIAA1751_uc009vkz.1_Silent_p.K65K|KIAA1751_uc001ain.1_Silent_p.K65K	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	65										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CAGCTGTTTTCTTCTTCAATT	0.488000														66			27		0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135625210	135625210	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:135625210G>A	uc002ttz.3	+	5	615	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	ACMSD_uc002tua.3_Missense_Mutation_p.R125Q|LOC100129961_uc010zbe.2_Non-coding_Transcript	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	183					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		ATGGATGGACGAATGGCCAAA	0.498000														94			54		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108112947	108112947	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108112947C>T	uc003dxa.1	-	36	5307	c.5250G>A	c.(5248-5250)caG>caA	p.Q1750Q		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1750						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						CAGCTTCTTTCTGCATCCGGG	0.488000														82			51		0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53741697	53741697	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53741697C>T	uc002qbg.1	-	4	434	c.283G>A	c.(283-285)Gac>Aac	p.D95N	ZNF677_uc002qbf.1_Missense_Mutation_p.D95N	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D95N(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TCCTTGAGGTCAAAATTGTTG	0.353000														122			29		0	0	1	0	0
MANEA	79694	broad.mit.edu	37	6	96034781	96034781	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:96034781C>T	uc003poo.2	+	1	646	c.466C>T	c.(466-468)Cct>Tct	p.P156S	MANEA_uc003pon.3_Missense_Mutation_p.P156S	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.	156	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		CAGCTTTTATCCTGAATTGGG	0.408000														118			59		0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66223165	66223165	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:66223165C>T	uc002apm.2	-	10	1545	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K	MEGF11_uc002apl.2_Silent_p.K393K|MEGF11_uc002apn.1_Silent_p.K468K	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	468	EGF-like 8.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CATTACCTTCCTTGCAGGTAC	0.587000														78			54		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43416923	43416923	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43416923C>T	uc003ouy.1	+	19	4399	c.4184C>T	c.(4183-4185)gCt>gTt	p.A1395V	ABCC10_uc003ouz.1_Missense_Mutation_p.A1367V|ABCC10_uc010jyo.1_Missense_Mutation_p.A501V	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1395	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TTGGCCAGGGCTCTCCTCACA	0.592000														63			8		0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223201	35223201	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:35223201C>T	uc001bxu.3	+	1	370	c.270C>T	c.(268-270)ctC>ctT	p.L90L	GJB5_uc021okz.1_Silent_p.L90L|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	90					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CCTCACTGCTCGTGGTCATGC	0.617000														77			18		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110535020	110535021	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110535020_110535021GG>AA	uc003yne.3	+	74	12335_12336	c.12231_12232GG>AA	c.(12229-12234)gtggcc>gtAAcc	p.A4078T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	4078					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TTCATCACGTGGCCTTCGTGTC	0.510000										HNSCC(38;0.096)				29			11		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5013298	5013298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5013298G>A	uc001lzv.3	+	4	718	c.700G>A	c.(700-702)Gac>Aac	p.D234N		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	234					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTGGTATCACGACCCTAGAAC	0.488000														51			19		0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29414516	29414516	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:29414516G>A	uc004dby.2	+	3	1012	c.504G>A	c.(502-504)gaG>gaA	p.E168E		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	168	Ig-like C2-type 2.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GTGACATAGAGGATTTTCTAC	0.378000														49			58		0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25585356	25585356	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:25585356G>A	uc001zaq.3	-	12	3143	c.2383C>T	c.(2383-2385)Cat>Tat	p.H795Y	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Missense_Mutation_p.H772Y|UBE3A_uc001zas.3_Missense_Mutation_p.H792Y|UBE3A_uc001zat.3_Missense_Mutation_p.H772Y	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	795	HECT.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GTAAATGAATGAACGATTTCC	0.368000														86			30		0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70681510	70681510	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:70681510G>A	uc001vip.3	-	0	1116	c.322C>T	c.(322-324)Cct>Tct	p.P108S	KLHL1_uc010thm.2_Missense_Mutation_p.P108S|ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	108					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCCTGCCCAGGAGCCCCTTGC	0.592000														45			27		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080195	54080195	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54080195G>A	uc002qbx.1	+	6	1815	c.381G>A	c.(379-381)aaG>aaA	p.K127K	ZNF331_uc002qby.1_Silent_p.K127K|ZNF331_uc002qbz.1_Silent_p.K127K|ZNF331_uc010eqr.1_Silent_p.K127K|ZNF331_uc002qca.1_Silent_p.K127K|ZNF331_uc021uzg.1_Silent_p.K127K|ZNF331_uc021uzh.1_Silent_p.K127K|ZNF331_uc002qcb.1_Silent_p.K127K|ZNF331_uc002qcc.1_Silent_p.K127K|ZNF331_uc002qcd.1_Silent_p.K127K	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GACATCATAAGGAGAATTCCT	0.423000			T	?	follicular thyroid adenoma									85			36		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39913526	39913526	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39913526C>T	uc010xuz.2	+	17	2157	c.1832C>T	c.(1831-1833)cCa>cTa	p.P611L	PLEKHG2_uc010xuy.2_Missense_Mutation_p.P552L|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.P389L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	611					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGCCTTCCCCACTCCACGTC	0.562000														47			15		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52645218	52645218	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:52645218G>A	uc002xws.2	-	3	774	c.436C>T	c.(436-438)Ccg>Tcg	p.P146S	BCAS1_uc010zzb.1_Missense_Mutation_p.P49S|BCAS1_uc010gim.2_Missense_Mutation_p.P49S|BCAS1_uc002xwt.2_Missense_Mutation_p.P146S|BCAS1_uc010gil.1_Missense_Mutation_p.P146S|BCAS1_uc010zzc.2_Missense_Mutation_p.P49S	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	146						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCCTGCCCCGGTCCAGCTGCC	0.592000														62			27		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153661707	153661707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153661707G>A	uc001fcs.4	+	16	3029	c.2608G>A	c.(2608-2610)Gaa>Aaa	p.E870K	NPR1_uc010pdz.2_Missense_Mutation_p.E616K|NPR1_uc010pea.2_Missense_Mutation_p.E348K	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	870					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGTGCAGGCCGAAGCCTTTGA	0.602000														106			33		0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6467622	6467622	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6467622C>T	uc002mfe.3	-	22	2391	c.2299G>A	c.(2299-2301)Gaa>Aaa	p.E767K	DENND1C_uc002mfb.3_Missense_Mutation_p.E317K|DENND1C_uc002mfc.3_Missense_Mutation_p.E317K|DENND1C_uc002mfd.3_Missense_Mutation_p.E317K|DENND1C_uc010xje.2_Missense_Mutation_p.E723K	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	767						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCTCCTGGTTCCTCCCGTGGC	0.622000														34			19		0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475669	52475669	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52475669C>T	uc003dea.1	-	5	588	c.588G>A	c.(586-588)ctG>ctA	p.L196L		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	196	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCTCTCGCCCCAGGAAGTCAG	0.657000														78			6		0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152319619	152319619	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152319619C>T	uc002txm.3	+	29	3746	c.3585C>T	c.(3583-3585)ttC>ttT	p.F1195F	RIF1_uc002txn.3_Silent_p.F1195F|RIF1_uc002txl.3_Silent_p.F1195F|RIF1_uc002txo.3_Silent_p.F1195F|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1195					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAATTCTTTCGTTGTCAGCA	0.368000														75			37		0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89662818	89662818	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:89662818C>T	uc001dnb.3	-	1	326	c.210G>A	c.(208-210)atG>atA	p.M70I		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	70						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CAAGACGATTCATGAGATAGG	0.488000														56			19		0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100126096	100126096	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:100126096C>T	uc003huo.2	-	7	1183	c.1089G>A	c.(1087-1089)atG>atA	p.M363I	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Missense_Mutation_p.M154I|ADH6_uc003hup.4_Missense_Mutation_p.M363I|ADH6_uc010ile.3_3'UTR	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	363					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TTCCAGTTTTCATTAATTCAA	0.373000														56			31		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32821520	32821520	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:32821520C>T	uc001utx.3	+	47	7385	c.6889C>T	c.(6889-6891)Ctt>Ttt	p.L2297F	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GTCAGCCAGCCTTGTTTTACC	0.408000														100			36		0	0	1	0	0
DUS2L	54920	broad.mit.edu	37	16	68110572	68110572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:68110572C>T	uc002evi.3	+	14	1269	c.1120C>T	c.(1120-1122)Cta>Tta	p.L374L	DUS2L_uc002evj.3_Silent_p.L374L|DUS2L_uc010vkk.2_Silent_p.L339L	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	Homo sapiens dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae) (DUS2L), mRNA.	374	DRBM.				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		TAAGATGTGCCTACTAGAGTG	0.607000														88			21		0	0	1	0	0
PPP1R11	6992	broad.mit.edu	37	6	30037021	30037021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30037021C>T	uc003npb.3	+	2	575	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	PPP1R11_uc010jrw.3_Non-coding_Transcript|PPP1R11_uc003npc.3_Non-coding_Transcript	NM_021959	NP_068778	O60927	PP1RB_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 11 (PPP1R11), mRNA.	107	Pro-rich.					soluble fraction	protein binding|protein phosphatase inhibitor activity			lung(2)|ovary(1)|prostate(1)|skin(2)	6						AGGACCGACCCCCACCACCCC	0.617000														125			68		0	0	1	0	0
TCR	0	broad.mit.edu	37	14	22740410	22740410	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22740410G>A	uc001wdn.3	+	1	347	c.314G>A	c.(313-315)gGg>gAg	p.G105E	TCRA_uc001wbw.2_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_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TCR_uc021rpx.1_Non-coding_Transcript					SubName: Full=Tcell alpha chain; Flags: Fragment;																		TCACAGCTGGGGGACACTGCG	0.473000														47			17		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61115696	61115696	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61115696C>T	uc010qif.1	-	1	202	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	FAM13C_uc010qid.2_5'UTR|FAM13C_uc001jkn.3_Missense_Mutation_p.E24K|FAM13C_uc001jko.3_Missense_Mutation_p.E24K|FAM13C_uc010qie.2_5'UTR	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	24										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACTGGATCTTCGTCACACCTG	0.418000														61			26		0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10290984	10290984	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10290984C>T	uc011atr.2	+	1	681	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	TATDN2_uc003bvg.2_Missense_Mutation_p.P34S|TATDN2_uc003bvf.3_Missense_Mutation_p.P34S|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	34						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	p.P34H(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TGATGTGGCCCCCTCCAGCCG	0.682000														69			36		0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51675865	51675865	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:51675865C>T	uc011bdt.2	+	13	2457	c.2332C>T	c.(2332-2334)Cga>Tga	p.R778*	RAD54L2_uc003dbh.3_Nonsense_Mutation_p.R369*|RAD54L2_uc011bdu.2_Nonsense_Mutation_p.R472*|RAD54L2_uc003dbj.3_Nonsense_Mutation_p.R104*	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	778	Helicase C-terminal.					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)		GAAGTGGGTTCGAAACATCAG	0.493000														8			9		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167517611	167517611	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:167517611G>A	uc010jjd.3	+	7	1548	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E	ODZ2_uc003lzq.2_Silent_p.E395E|ODZ2_uc003lzr.4_Silent_p.E284E	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)		ACGGGAAGGAGAAGTGGAGTG	0.537000														86			23		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344598	20344598	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20344598C>T	uc001vwh.1	+	0	172	c.172C>T	c.(172-174)Cct>Tct	p.P58S		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTACACTCTCCTATGTATTT	0.398000														243			113		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950188	198950188	+	Silent	SNP	C	T	T	rs151231252		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:198950188C>T	uc010fsp.3	+	1	2345	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	PLCL1_uc002uuv.4_Silent_p.I570I	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	649	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.I551I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCATGAGGATCGATTCCAGTA	0.423000														54			21		0	0	1	0	0
GSG1L	146395	broad.mit.edu	37	16	27895874	27895874	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:27895874G>A	uc002doz.2	-	2	568	c.483C>T	c.(481-483)ttC>ttT	p.F161F	GSG1L_uc010bya.1_Intron|GSG1L_uc010bxz.1_Silent_p.F6F|GSG1L_uc002doy.2_Silent_p.F6F	NM_001109763	NP_653276	Q6UXU4	GSG1L_HUMAN	Homo sapiens GSG1-like (GSG1L), transcript variant 1, mRNA.	161						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						TGCTGGAGTGGAAGAGCTCGA	0.587000														14			4		0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51777827	51777827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:51777827G>A	uc001csl.3	-	3	427	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L	TTC39A_uc001csk.3_Silent_p.L108L|TTC39A_uc010ond.2_Silent_p.L80L|TTC39A_uc010one.2_Silent_p.L107L|TTC39A_uc010onf.2_Silent_p.L111L|TTC39A_uc001csn.3_Silent_p.L107L|TTC39A_uc001cso.1_Silent_p.L104L|TTC39A_uc009vyy.1_Silent_p.L80L	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	108							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CGGTTCACCAGGCTGCTGAAG	0.567000														18			4		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22170068	22170068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22170068C>T	uc021urr.1	-	2	325	c.176G>A	c.(175-177)gGa>gAa	p.G59E	ZNF208_uc002nqo.1_Missense_Mutation_p.G59E|ZNF208_uc002nqq.3_Non-coding_Transcript	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.G59E(4)		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)				GGACTCTTTTCCTTCCTCCAG	0.413000														106			9		0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164507045	164507045	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:164507045G>A	uc003iqs.2	-	5	461	c.279C>T	c.(277-279)ctC>ctT	p.L93L	MARCH1_uc003iqr.2_Silent_p.L76L	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	93					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	p.S92F(1)		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)				AGGGTGTGATGAGGGGGCTCT	0.537000														44			16		0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111715	64111715	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64111715G>A	uc001nzy.3	+	13	1751	c.1702G>A	c.(1702-1704)Gac>Aac	p.D568N	CCDC88B_uc009ypo.2_Missense_Mutation_p.D565N|CCDC88B_uc001nzz.1_Missense_Mutation_p.D217N	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	568					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCTGCCATGGACCCCCAGGC	0.632000														67			41		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28802509	28802509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:28802509G>A	uc002rmb.2	+	22	1545	c.1501G>A	c.(1501-1503)Gaa>Aaa	p.E501K	PLB1_uc010ezj.2_Missense_Mutation_p.E512K|PLB1_uc002rmc.3_Missense_Mutation_p.E189K|PLB1_uc002rmd.1_Missense_Mutation_p.E11K	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	501	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACACTTTCAGGAAGACTGGAA	0.423000														76			46		0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44418275	44418275	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44418275T>A	uc002oxu.2	-	3	1412	c.1313A>T	c.(1312-1314)cAt>cTt	p.H438L	ZNF45_uc002oxw.2_Missense_Mutation_p.H438L	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	Homo sapiens zinc finger protein 45 (ZNF45), mRNA.	438					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TTCCCCTGTATGGACTCTAAA	0.478000														110			32		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102707	22102707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22102707G>A	uc010tmc.2	-	0	292	c.292C>T	c.(292-294)Ccg>Tcg	p.P98S		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCACCAAACGGGATAGCCTTG	0.498000														36			20		0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133507337	133507337	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:133507337C>T	uc004bzr.1	+	14	1469	c.1361C>T	c.(1360-1362)cCt>cTt	p.P454L		NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA.	454					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		AGTACCTTTCCTCCAAGGAGC	0.602000														82			26		0	0	1	0	0
FOXN3	1112	broad.mit.edu	37	14	89878700	89878700	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:89878700G>A	uc001xxo.4	-	1	258	c.121C>T	c.(121-123)Ctc>Ttc	p.L41F	FOXN3_uc001xxn.4_Missense_Mutation_p.L41F|FOXN3_uc010atk.3_Missense_Mutation_p.L41F|FOXN3_uc001xxp.2_Missense_Mutation_p.L41F	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	41					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GAAAAGTCGAGGTCATCGTCT	0.522000														101			54		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362178	9362178	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9362178C>T	uc002mlb.1	+	0	459	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ACCGAATCATCATGAACCCAC	0.443000														54			18		0	0	1	0	0
UNC45A	55898	broad.mit.edu	37	15	91492021	91492021	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:91492021C>T	uc002bqg.3	+	12	2215	c.1875C>T	c.(1873-1875)ccC>ccT	p.P625P	UNC45A_uc002bqd.3_Silent_p.P610P|UNC45A_uc010uqr.2_Silent_p.P17P|UNC45A_uc021suj.1_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	625					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGCAGCACCCCAAGGTGAGGG	0.577000														17			8		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323156	61323157	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61323156_61323157CC>TT	uc002lji.3	-	7	1051_1052	c.907_908GG>AA	c.(907-909)gga>AAa	p.G303K	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.G251K	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	303					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATCCACCATTCCCATGGTTCTC	0.505000														121			27		0	0	1	0	0
TRGV3	6976	broad.mit.edu	37	7	38398395	38398396	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:38398395_38398396CC>TT	uc003tgr.2	-	1	174_175	c.71_72GG>AA	c.(70-72)ggg>gAA	p.G24E	LOC100506776_uc003tgp.2_Intron					RecName: Full=T-cell receptor gamma chain V region PT-gamma-1/2; Flags: Precursor;																		ACTTCGTTCTCCCTTCCAAGTT	0.441000														105			19		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196651856	196651856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196651856G>A	uc002utj.4	-	57	10857	c.10756C>T	c.(10756-10758)Cat>Tat	p.H3586Y	DNAH7_uc002uti.4_Missense_Mutation_p.H69Y	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3586	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCAAAGCATGAAAGAAACAC	0.388000														92			21		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45681059	45681059	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45681059G>A	uc002zeg.1	-	1	568	c.84C>T	c.(82-84)tcC>tcT	p.S28S	DNMT3L_uc002zeh.1_Silent_p.S28S	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	28					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CGGGTGAAACGGAGCTTGAGA	0.602000														83			36		0	0	1	0	0
SNX5	27131	broad.mit.edu	37	20	17934726	17934726	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:17934726A>G	uc002wqc.3	-	3	389	c.303T>C	c.(301-303)ggT>ggC	p.G101G	SNX5_uc002wqb.3_Non-coding_Transcript|SNX5_uc002wqd.3_Silent_p.G101G|SNX5_uc002wqe.3_5'UTR|SNX5_uc010zrt.1_Silent_p.G101G	NM_014426	NP_689413	Q9Y5X3	SNX5_HUMAN	Homo sapiens sorting nexin 5 (SNX5), transcript variant 2, mRNA.	101	PX.|Phosphatidylinositol bisphosphate binding (By similarity).				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TCTCTCGAGGACCATCAAAGT	0.493000														174			62		0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27455990	27455991	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:27455990_27455991GG>AA	uc002dor.2	+	6	1249_1250	c.701_702GG>AA	c.(700-702)ggg>gAA	p.G234E	IL21R_uc002doq.2_Missense_Mutation_p.G212E|IL21R_uc002dos.2_Missense_Mutation_p.G212E	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	212					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TCCTACCAGGGGACCTGGAGTG	0.584000			T	BCL6	NHL									86			21		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147811	82147811	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:82147811G>A	uc001szo.2	-	2	351	c.190C>T	c.(190-192)Cag>Tag	p.Q64*	PPFIA2_uc021rbi.1_Nonsense_Mutation_p.Q64*|PPFIA2_uc021rbj.1_Nonsense_Mutation_p.Q64*|PPFIA2_uc021rbk.1_Nonsense_Mutation_p.Q64*|PPFIA2_uc021rbl.1_Nonsense_Mutation_p.Q64*	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	323										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATGACATCCTGAAGTCTTTGC	0.483000														36			4		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55568937	55568937	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:55568937C>T	uc021pqw.1	-	35	5277	c.4882G>A	c.(4882-4884)Gaa>Aaa	p.E1628K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Missense_Mutation_p.E1623K|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					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)				GACTCAGATTCCTCTTCTGTA	0.458000										HNSCC(58;0.16)				50			31		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19411954	19411954	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19411954G>A	uc010tcj.1	-	0		c.34156C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GGAATCCATCGACTTGTTACC	0.443000														67			23		0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133078886	133078886	+	Missense_Mutation	SNP	G	A	A	rs139348170	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:133078886G>A	uc003qdt.3	-	0	148	c.137C>T	c.(136-138)tCt>tTt	p.S46F	VNN2_uc003qds.3_5'UTR|VNN2_uc010kgb.3_Missense_Mutation_p.S46F|VNN2_uc003qdv.3_5'UTR	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	46	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		ATCCTCCTGAGAAACTGGTGT	0.418000														74			35		0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165349587	165349587	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:165349587G>A	uc002ucl.3	-	13	2123	c.1582C>T	c.(1582-1584)Cct>Tct	p.P528S	GRB14_uc010zcv.2_Missense_Mutation_p.P441S	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	528	SH2.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AACTTGCAAGGAAGAACGCCC	0.383000														62			16		0	0	1	0	0
POLDIP3	84271	broad.mit.edu	37	22	42981873	42981873	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:42981873G>A	uc011apq.2	-	8	1340	c.1241C>T	c.(1240-1242)aCc>aTc	p.T414I	POLDIP3_uc011app.2_3'UTR|POLDIP3_uc011apr.2_Non-coding_Transcript|POLDIP3_uc003bcu.3_Missense_Mutation_p.T397I|POLDIP3_uc003bcv.3_Missense_Mutation_p.T368I|POLDIP3_uc010gza.3_Non-coding_Transcript	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 3 (POLDIP3), transcript variant 1, mRNA.	397					positive regulation of translation	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CTTCAGGATGGTGTCAGGGTC	0.582000														91			44		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54798330	54798330	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:54798330C>T	uc003dhf.3	+	12	1380	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.I350I|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.I178I	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	444						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCAAAGTCATCGACCAGGAGC	0.522000														86			40		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28966722	28966722	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28966722C>T	uc002kwr.2	+	2	291	c.156C>T	c.(154-156)atC>atT	p.I52I	DSG4_uc002kwq.2_Silent_p.I52I	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	52	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGGAGTGGATCAAGTTTGCCG	0.438000														110			9		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11535948	11535948	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11535948T>A	uc002gne.3	+	7	1631	c.1563T>A	c.(1561-1563)gaT>gaA	p.D521E		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	521	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D521Y(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGTAGAAGATCTTGACCGAA	0.408000														76			36		0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346532	102346532	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:102346532G>A	uc010utr.2	+	0	610	c.610G>A	c.(610-612)Gga>Aga	p.G204R		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGCCAATAGTGGATTTATTTC	0.343000														187			45		0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18257552	18257552	+	Silent	SNP	G	A	A	rs138099497		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:18257552G>A	uc022asl.1	+	0	39	c.39G>A	c.(37-39)aaG>aaA	p.K13K	NAT2_uc003wyw.1_Silent_p.K13K	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	13					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TTGGCTATAAGAACTCTAGGA	0.373000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					167			56		0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53085871	53085871	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53085871C>T	uc010ydn.2	+	4	820	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C	ZNF701_uc002pzs.2_Missense_Mutation_p.R187C|ZNF701_uc021uyw.1_Missense_Mutation_p.R253C	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GCCAAAAACTCGTATTTCTAA	0.383000														68			33		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52539771	52539771	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52539771G>A	uc003dej.3	+	14	1743	c.1669G>A	c.(1669-1671)Ggc>Agc	p.G557S	STAB1_uc003dei.1_Missense_Mutation_p.G557S	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	557	FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTTGCGTGACGGCCGCCTGAT	0.637000														48			14		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53844098	53844098	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:53844098C>T	uc003dgv.4	+	46	6128	c.5965C>T	c.(5965-5967)Ccc>Tcc	p.P1989S	CACNA1D_uc003dgu.4_Missense_Mutation_p.P2009S|CACNA1D_uc003dgy.4_Missense_Mutation_p.P1965S|CACNA1D_uc003dgw.4_Missense_Mutation_p.P1656S|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1989					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AGCAACCCCTCCCTACCGGGA	0.632000														85			15		0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102585936	102585936	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:102585936C>T	uc010mbu.3	+	5	1105	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C	GRHL2_uc011lhi.1_Missense_Mutation_p.R259C	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	259						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CAAATCTCTCCGTCAGAAGCA	0.507000														43			15		0	0	1	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71260054	71260054	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:71260054C>T	uc001oqs.1	+	0	589	c.351C>T	c.(349-351)tcC>tcT	p.S117S		NM_005553	NP_005544	P26371	KRA59_HUMAN	Homo sapiens keratin associated protein 5-9 (KRTAP5-9), mRNA.	117	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CCTGTTGCTCCTCCTCGGGTC	0.622000														168			61		0	0	1	0	0
TLX1NB	100038246	broad.mit.edu	37	10	102849587	102849587	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:102849587C>T	uc001ksv.3	-	2	1373	c.76G>A	c.(76-78)Gag>Aag	p.E26K		NM_001085398	NP_001078867	P0CAT3	TLXNB_HUMAN	Homo sapiens TLX1 neighbor (TLX1NB), mRNA.	26																	CCCATGGCCTCTTGGGAAAGG	0.657000														15			3		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60063501	60063501	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:60063501G>A	uc001xen.1	-	8	2502	c.2293C>T	c.(2293-2295)Cag>Tag	p.Q765*	RTN1_uc001xem.1_Nonsense_Mutation_p.Q345*|RTN1_uc001xek.2_Nonsense_Mutation_p.Q197*|RTN1_uc010apl.2_Nonsense_Mutation_p.Q182*	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	765	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ATTTTAGCCTGAATCCTAAAA	0.398000														83			32		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113168633	113168633	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113168633C>T	uc010mtz.3	-	37	9584	c.9247G>A	c.(9247-9249)Gaa>Aaa	p.E3083K	SVEP1_uc010mty.3_Missense_Mutation_p.E1009K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3083	Sushi 28.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCACATTTTCCTTCCAAGAG	0.473000														132			39		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192950	132192950	+	Missense_Mutation	SNP	G	A	A	rs141998123		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:132192950G>A	uc003vra.4	-	1	732	c.503C>T	c.(502-504)tCa>tTa	p.S168L	PLXNA4_uc003vrc.2_Missense_Mutation_p.S168L|PLXNA4_uc003vrb.3_Missense_Mutation_p.S168L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	168	Sema.					integral to membrane|intracellular|plasma membrane		p.S168S(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCAAAGACTGAGCCGCTCTC	0.542000														68			21		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13660436	13660436	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:13660436G>A	uc011avc.2	+	6	2354	c.1972G>A	c.(1972-1974)Gag>Aag	p.E658K	FBLN2_uc011auz.2_Missense_Mutation_p.E684K|FBLN2_uc011avb.2_Missense_Mutation_p.E658K|FBLN2_uc011ava.2_Missense_Mutation_p.E658K	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	658						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCCCCACAGGAGCCTGCACT	0.602000														25			6		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6055780	6055780	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:6055780G>A	uc010idb.1	-	12	2289	c.1803C>T	c.(1801-1803)ctC>ctT	p.L601L	JAKMIP1_uc010idc.1_Silent_p.L416L|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Silent_p.L601L|JAKMIP1_uc011bwc.2_Silent_p.L436L|JAKMIP1_uc003giv.4_Silent_p.L601L|JAKMIP1_uc010ide.3_3'UTR	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	601	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.L601L(3)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCTTACTTCGAGTTCTAGCA	0.403000														162			65		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39893908	39893908	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:39893908C>T	uc021olw.1	+	26	12072	c.12072C>T	c.(12070-12072)ttC>ttT	p.F4024F	MACF1_uc021ols.1_Silent_p.F3522F|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Silent_p.F3522F|MACF1_uc001cda.1_Silent_p.F3409F	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	5589					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTTCAGTGTTCGTAAAGGATT	0.448000														33			13		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66075971	66075971	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:66075971C>T	uc001dci.3	+	13	2376	c.1987C>T	c.(1987-1989)Ctt>Ttt	p.L663F	LEPR_uc001dcg.3_Missense_Mutation_p.L663F|LEPR_uc001dch.3_Missense_Mutation_p.L663F|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.L663F|LEPR_uc001dcj.3_Missense_Mutation_p.L663F|LEPR_uc001dck.3_Missense_Mutation_p.L663F	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	663	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGTCACTTTACTTTGGAAGGT	0.284000														50			7		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769732	57769732	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:57769732G>A	uc002yan.3	+	0	3658	c.3658G>A	c.(3658-3660)Ggt>Agt	p.G1220S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1220						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCGAGATGAGGGTCCCAATGG	0.627000														19			11		0	0	1	0	0
VAMP7	6845	broad.mit.edu	37	X	155119159	155119159	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:155119159G>A	uc004fnr.3	+	1	208	c.30G>A	c.(28-30)agG>agA	p.R10R	VAMP7_uc011naa.2_5'UTR|VAMP7_uc011nab.2_5'UTR|VAMP7_uc004fnt.3_Silent_p.R10R|VAMP7_uc004fns.3_Silent_p.R10R|VAMP7_uc011nac.2_5'UTR	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	10	Longin.				ER to Golgi vesicle-mediated transport|calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	Golgi apparatus|SNARE complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGTTGCCAGGGGGACCACTA	0.403000														112			46		0	0	1	0	0
HBZ	3050	broad.mit.edu	37	16	202971	202971	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:202971G>A	uc002cft.1	+	0	118	c.63G>A	c.(61-63)caG>caA	p.Q21Q		NM_005332	NP_005323	P02008	HBAZ_HUMAN	Homo sapiens hemoglobin, zeta (HBZ), mRNA.	21						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TCTCCACGCAGGCCGACACCA	0.627000														29			5		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90537132	90537132	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90537132G>A	uc010mqi.3	+	3	2339	c.2310G>A	c.(2308-2310)caG>caA	p.Q770Q	FAM75C1_uc004apq.4_Silent_p.Q753Q|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CAGCTGGACAGGAGGGCAGGT	0.577000														59			5		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122836061	122836061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:122836061C>T	uc003ieg.2	-	3	1289	c.1215G>A	c.(1213-1215)acG>acA	p.T405T	TRPC3_uc010inr.2_Intron|TRPC3_uc003ief.2_Silent_p.T332T|TRPC3_uc011cgl.1_Silent_p.T69T	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	320					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CATACCAGATCGTCAAGAGCT	0.512000														38			16		0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205068928	205068928	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205068928G>A	uc010prd.2	-	7	1305	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	RBBP5_uc010pre.2_Nonsense_Mutation_p.R180*|RBBP5_uc001hbu.2_Nonsense_Mutation_p.R307*|RBBP5_uc001hbv.2_Nonsense_Mutation_p.R307*	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.	307					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ATGATGGGTCGAACAGGATGC	0.363000														135			50		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22255652	22255652	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22255652G>A	uc010ecx.3	+	1	214	c.45G>A	c.(43-45)ctG>ctA	p.L15L	ZNF257_uc010ecy.3_5'UTR	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	15	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AATTCTCTCTGGAGGAGTGGC	0.433000														160			50		0	0	1	0	0
PARP3	10039	broad.mit.edu	37	3	51979178	51979178	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:51979178C>T	uc003dby.3	+	5	1170	c.799C>T	c.(799-801)Cac>Tac	p.H267Y	PARP3_uc003dbz.3_Missense_Mutation_p.H274Y	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 3 (PARP3), transcript variant 2, mRNA.	267	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAACTTCGGCCACAGCCAGCC	0.652000														114			44		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	22005007	22005007	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22005007C>T	uc001wbe.3	-	0	331	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	SALL2_uc010tma.1_Missense_Mutation_p.E17K|SALL2_uc001wbg.1_Missense_Mutation_p.E17K	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	17							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTGGGACCTTCGCAGTCCGAG	0.632000														45			24		0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64535205	64535205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64535205G>A	uc001obb.2	-	9	1632	c.1180C>T	c.(1180-1182)Ccc>Tcc	p.P394S	SF1_uc010rnm.2_Missense_Mutation_p.P86S|SF1_uc010rnn.2_Missense_Mutation_p.P368S|SF1_uc001oaz.2_Missense_Mutation_p.P519S|SF1_uc001oba.2_Missense_Mutation_p.P394S|SF1_uc001obd.2_Missense_Mutation_p.P394S|SF1_uc001obc.2_Missense_Mutation_p.P394S|SF1_uc001obe.2_Missense_Mutation_p.P279S|SF1_uc010rno.2_Missense_Mutation_p.P279S|SF1_uc021qky.1_5'Flank	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	394	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						AAGCTGTGGGGGCCACCTCCG	0.647000											OREG0004010|OREG0021062	type=REGULATORY REGION|Gene=LOC476031|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			24		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69320593	69320593	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:69320593C>T	uc002ars.2	+	2	254	c.213C>T	c.(211-213)tcC>tcT	p.S71S	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.S53S|NOX5_uc002arp.2_Silent_p.S53S|NOX5_uc010bid.2_Silent_p.S64S|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Silent_p.S71S	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	71	EF-hand 2.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity	p.L70M(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TATTTGACTCCGATAGAAGTG	0.552000														197			34		0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169086465	169086465	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169086465G>A	uc003irm.3	+	5	632	c.468G>A	c.(466-468)atG>atA	p.M156I	ANXA10_uc003irn.3_Missense_Mutation_p.M28I	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	156							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		ATACTCTCATGAACTTGGTCC	0.323000														72			46		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34018600	34018600	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34018600G>A	uc001zhi.3	+	45	6996	c.6926G>A	c.(6925-6927)gGa>gAa	p.G2309E	RYR3_uc010bar.3_Missense_Mutation_p.G2309E	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2309	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCCAGACAGGAAAGGGGGAA	0.557000														19			3		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48258241	48258241	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:48258241G>A	uc002eff.1	-	3	845	c.495C>T	c.(493-495)ttC>ttT	p.F165F	ABCC11_uc002efg.1_Silent_p.F165F|ABCC11_uc002efh.1_Silent_p.F165F|ABCC11_uc010vgl.1_Silent_p.F165F	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	165	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GAAGTGCATCGAAAATCAACC	0.512000														53			25		0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69337234	69337234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69337234C>T	uc003hdz.4	+	4	447	c.383C>T	c.(382-384)aCt>aTt	p.T128I		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	128	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.S127C(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTTCACTCTACTGAGGATCCT	0.373000														234			87		0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186364116	186364116	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:186364116C>T	uc010hyq.3	+	5	935	c.674C>T	c.(673-675)tCa>tTa	p.S225L	FETUB_uc011brz.2_Missense_Mutation_p.S77L|FETUB_uc003fqn.3_Missense_Mutation_p.S225L|FETUB_uc010hyr.3_Missense_Mutation_p.S188L|FETUB_uc010hys.3_Missense_Mutation_p.S77L|FETUB_uc003fqp.4_Missense_Mutation_p.S160L	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	225	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity	p.S225S(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AGCAGCTGTTCACTTCAGTCC	0.408000														125			47		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27465590	27465590	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27465590C>T	uc002rji.3	+	40	6487	c.6325C>T	c.(6325-6327)Ctg>Ttg	p.L2109L	CAD_uc010eyw.3_Silent_p.L2046L	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	2109	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.S2108R(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACCTCCCAGCCTGCGCATGCC	0.652000														72			6		0	0	1	0	0
C7orf29	113763	broad.mit.edu	37	7	150027920	150027920	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150027920G>A	uc003wgy.3	+	0	983	c.427G>A	c.(427-429)Gag>Aag	p.E143K	LRRC61_uc003wgv.3_Intron|LRRC61_uc003wgx.3_Intron|LRRC61_uc003wgw.3_Intron	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	Homo sapiens chromosome 7 open reading frame 29 (C7orf29), mRNA.	143										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CTCCGGGGTGGAGGGGAGAAG	0.632000														34			12		0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587447	36587447	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:36587447C>T	uc003aox.3	-	5	954	c.729G>A	c.(727-729)gcG>gcA	p.A243A	APOL4_uc003aow.3_Silent_p.A240A|APOL4_uc010gww.3_Silent_p.A86A	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant b, mRNA.	244					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						GGACATCATTCGCAATCATTT	0.438000														37			23		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331697	70331697	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70331697G>A	uc001oqc.3	-	20	4615	c.4503C>T	c.(4501-4503)ctC>ctT	p.L1501L	SHANK2_uc010rqn.2_Silent_p.L977L|SHANK2_uc001opz.3_Silent_p.L972L|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1188					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTTCTTCCACGAGCGCGTCTT	0.552000														172			61		0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110300424	110300424	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:110300424G>A	uc011eav.2	+	2	398	c.154G>A	c.(154-156)Gga>Aga	p.G52R	GPR6_uc011eaw.2_Missense_Mutation_p.G37R|GPR6_uc003ptu.3_Missense_Mutation_p.G37R|GPR6_uc021zds.1_Missense_Mutation_p.G37R	NM_005284	NP_005275	P46095	GPR6_HUMAN	Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.	37						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GGGCGAATGGGGACCCCCTGC	0.736000														29			16		0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	89028445	89028445	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:89028445C>T	uc001pcs.3	+	4	1583	c.1501C>T	c.(1501-1503)Cgt>Tgt	p.R501C		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	501					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.R501R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CTTGCTGTGTCGTCACAAGAG	0.537000														46			19		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	344285	344285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:344285G>A	uc001qic.2	-	6	892	c.802C>T	c.(802-804)Cca>Tca	p.P268S	SLC6A13_uc009zdj.2_Missense_Mutation_p.P268S|SLC6A13_uc010sdl.2_Missense_Mutation_p.P176S|SLC6A13_uc010sdm.1_Missense_Mutation_p.P149S	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	268					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GTGAGGTTTGGGTACAGGTAA	0.557000														67			15		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36179516	36179516	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:36179516C>T	uc003gsq.2	-	8	2128	c.1790G>A	c.(1789-1791)aGa>aAa	p.R597K	ARAP2_uc003gsr.1_Missense_Mutation_p.R597K	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	597	PH 2.				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						CTTATAGCCTCTCAATTCAAG	0.398000														100			17		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78647165	78647165	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:78647165G>A	uc001jxn.3	-	27	3747	c.3570C>T	c.(3568-3570)tcC>tcT	p.S1190S	KCNMA1_uc021ptu.1_Silent_p.S1082S|KCNMA1_uc001jxj.2_Silent_p.S1136S|KCNMA1_uc001jxk.1_Silent_p.S808S|KCNMA1_uc009xrt.1_Silent_p.S981S|KCNMA1_uc001jxl.1_Silent_p.S815S|KCNMA1_uc001jxo.3_Silent_p.S1173S|KCNMA1_uc001jxm.3_Silent_p.S1132S|KCNMA1_uc001jxq.3_Silent_p.S1162S|BC030624_uc001jxp.3_5'Flank	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1190					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GGGAGGAATGGGACAGGCTGG	0.587000														59			22		0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110031617	110031617	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110031617C>T	uc001dxr.3	+	6	947	c.932C>T	c.(931-933)tCc>tTc	p.S311F	ATXN7L2_uc001dxs.3_5'UTR	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	311										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAGCGCCCCTCCCAGGAGCTC	0.617000														47			16		0	0	1	0	0
IL20RB	53833	broad.mit.edu	37	3	136708326	136708326	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:136708326C>T	uc003eri.2	+	3	699	c.450C>T	c.(448-450)ttC>ttT	p.F150F	IL20RB_uc003erj.2_Non-coding_Transcript|IL20RB_uc010hud.2_Silent_p.F8F	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA.	150	Fibronectin type-III 2.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAGATGGCTTCCACCTGGTTA	0.582000														58			17		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40061891	40061891	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:40061891C>T	uc003ayc.3	+	22	3984	c.3984C>T	c.(3982-3984)ttC>ttT	p.F1328F	CACNA1I_uc003ayd.3_Silent_p.F1293F|CACNA1I_uc003aye.3_Silent_p.F1243F|CACNA1I_uc003ayf.3_Silent_p.F1208F	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1328					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.F1328L(1)|p.F1293L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCCAGCTCTTCAAGGGCAAGT	0.567000														104			43		0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97170471	97170471	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:97170471G>A	uc001kkp.3	-	7	919	c.874C>T	c.(874-876)Cca>Tca	p.P292S	SORBS1_uc001kkl.3_5'UTR|SORBS1_uc001kkn.3_Missense_Mutation_p.P125S|SORBS1_uc001kkm.3_Missense_Mutation_p.P148S|SORBS1_uc001kko.3_Missense_Mutation_p.P292S|SORBS1_uc001kkq.3_Missense_Mutation_p.P223S|SORBS1_uc001kkr.3_Missense_Mutation_p.P128S|SORBS1_uc001kks.3_Missense_Mutation_p.P128S|SORBS1_uc001kkt.3_Non-coding_Transcript|SORBS1_uc001kku.3_Missense_Mutation_p.P169S|SORBS1_uc001kkv.3_Missense_Mutation_p.P260S|SORBS1_uc001kkw.3_Missense_Mutation_p.P292S|SORBS1_uc010qoe.2_Missense_Mutation_p.P137S|SORBS1_uc010qof.1_Missense_Mutation_p.P490S	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	292				PSVS -> SSEC (in Ref. 1; AAD27647 and 3; AAF22175).	focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTAACTGATGGAAAGGCTTGG	0.428000														71			19		0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204124159	204124159	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204124159G>A	uc001haq.2	-	9	1250	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	ETNK2_uc001hao.4_5'Flank|ETNK2_uc001han.4_5'Flank|ETNK2_uc010pqs.2_5'Flank|ETNK2_uc010pqt.2_5'Flank	NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	402					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGGCCAAGGCGAAGCCAATGC	0.632000														49			18		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105417287	105417287	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105417287G>A	uc010axc.1	-	6	4621	c.4501C>T	c.(4501-4503)Ccg>Tcg	p.P1501S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P1401S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1501						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGAACGACGGCATCTTGAAC	0.602000														289			45		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48145489	48145489	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:48145489C>T	uc002efc.1	-	15	2555	c.2209_splice	c.e15+1	p.V737_splice	ABCC12_uc002eey.1_Intron|ABCC12_uc002eez.1_Intron|ABCC12_uc002efa.1_Intron|ABCC12_uc002efb.1_Intron|ABCC12_uc002efd.1_Intron	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	737						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GGATTCTAACCGATTATACCA	0.448000														339			82		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66931291	66931291	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:66931291G>A	uc004dwu.2	+	3	3048	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	AR_uc022byk.1_Missense_Mutation_p.E645K|AR_uc004dwv.2_Missense_Mutation_p.E113K	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	644	Interaction with HIPK3 (By similarity).|Interaction with MYST2.		A -> D (in dbSNP:rs1800053).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GGAGGAAGGAGAGGCTTCCAG	0.473000									Androgen Insensitivity Syndrome					5			4		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30926222	30926222	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:30926222G>A	uc010xbr.1	-	7	753	c.611C>T	c.(610-612)tCt>tTt	p.S204F	C18orf34_uc002kxn.2_Missense_Mutation_p.S204F|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.S204F|C18orf34_uc002kxp.3_Missense_Mutation_p.S204F	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	204										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						GACTGACCAAGAGTCAATTTT	0.368000														102			34		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8500760	8500760	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:8500760C>T	uc003zkk.3	-	23	2865	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	708					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATACCATCTTCATTGGTTCGA	0.488000										TSP Lung(15;0.13)				60			37		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75248676	75248676	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75248676C>T	uc001xqj.4	+	3	2054	c.1930C>T	c.(1930-1932)Cct>Tct	p.P644S	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGGGATACCTCCTCAGTTAAC	0.547000														55			23		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55127312	55127312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:55127312G>A	uc003han.4	+	2	431	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_Missense_Mutation_p.E34K|PDGFRA_uc010igq.1_Intron|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	34	Ig-like C2-type 1.				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			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)	CCTTCCAAATGAAAATGAAAA	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)				139			32		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587231	247587231	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247587231G>A	uc001icr.3	+	4	624	c.486G>A	c.(484-486)gtG>gtA	p.V162V	NLRP3_uc001ics.3_Silent_p.V162V|NLRP3_uc001icu.3_Silent_p.V162V|NLRP3_uc001icw.3_Silent_p.V162V|NLRP3_uc001icv.3_Silent_p.V162V|NLRP3_uc010pyw.2_Silent_p.V160V|NLRP3_uc001ict.1_Silent_p.V160V	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	162					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGAGAGTGTGAGCCTCAACA	0.532000														31			8		0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116569584	116569584	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:116569584C>T	uc001egb.4	+	4	799	c.669C>T	c.(667-669)tcC>tcT	p.S223S	SLC22A15_uc001ega.2_Silent_p.S223S	NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA.	223					ion transport	integral to membrane	transmembrane transporter activity	p.R222S(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCATCCGCTCCTGGAGGACCC	0.448000														123			60		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139905714	139905714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139905714G>A	uc004ckm.1	-	37	5984	c.5934C>T	c.(5932-5934)ttC>ttT	p.F1978F	ABCA2_uc022bpy.1_Silent_p.F1879F|ABCA2_uc022bpz.1_Silent_p.F1949F|ABCA2_uc011mem.1_Silent_p.F1948F|ABCA2_uc004ckl.1_Silent_p.F1879F|ABCA2_uc022bqa.1_5'Flank	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1948					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGTAGTTGGGGAAAATGAGGA	0.617000														36			5		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140409953	140409953	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:140409953C>T	uc003eto.2	+	3	2210	c.2004C>T	c.(2002-2004)aaC>aaT	p.N668N		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	668	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGCTGCACAACCTGACCCCCA	0.428000														109			45		0	0	1	0	0
P2RY6	5031	broad.mit.edu	37	11	73007962	73007962	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:73007962C>T	uc021qnb.1	+	0	399	c.399C>T	c.(397-399)gcC>gcT	p.A133A	P2RY6_uc001otm.3_Silent_p.A133A|P2RY6_uc001otn.3_Silent_p.A133A|P2RY6_uc001otq.3_Silent_p.A133A|P2RY6_uc001otr.3_Silent_p.A133A|P2RY6_uc001ots.3_Silent_p.A133A	NM_176798	NP_789768	Q15077	P2RY6_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 6 (P2RY6), transcript variant 2, mRNA.	133					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						ACCCGCTGGCCCCCTGGCACA	0.657000														88			8		0	0	1	0	0
VENTXP7	391518	broad.mit.edu	37	3	21447657	21447657	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:21447657G>A	uc003ccd.3	+	0		c.440G>A								Homo sapiens VENT homeobox pseudogene 7 (VENTXP7), non-coding RNA.																		ATCGCCGGATGAAACACAAAC	0.577000														9			6		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10927488	10927488	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:10927488C>T	uc003mzo.3	+	16	1624	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F	SYCP2L_uc011din.1_Intron|SYCP2L_uc010jow.3_Missense_Mutation_p.S63F	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	443						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)			GCAGAAGAATCCACTAACATG	0.448000														68			20		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468411	56468411	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:56468411C>T	uc021wzo.1	-	0	765	c.625G>A	c.(625-627)Gag>Aag	p.E209K	ERC2_uc003dhr.1_Missense_Mutation_p.E209K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	209						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTCATCTGCTCCTTGAGGACA	0.458000														58			28		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192711529	192711529	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:192711529C>T	uc002utb.3	-	0	478	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	41						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CCTCTGTGTTCCCTAGGTTCA	0.607000														62			33		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103705025	103705025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:103705025G>A	uc001vpy.4	-	2	1127	c.530C>T	c.(529-531)tCc>tTc	p.S177F		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	177					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CATTCCAATGGAAACAGGAAC	0.388000														67			25		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538257	55538257	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55538257C>T	uc003xsd.1	+	3	1963	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	605					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATGATAGGTTCAGTCCTATTT	0.378000														109			33		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56090698	56090698	+	Silent	SNP	G	A	A	rs142311782	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56090698G>A	uc001shh.3	-	11	1954	c.1734C>T	c.(1732-1734)gcC>gcT	p.A578A	ITGA7_uc001shg.3_Silent_p.A574A|ITGA7_uc010sps.2_Silent_p.A481A|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Silent_p.A455A	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	618					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCTGGAACATGGCGTCTCCAC	0.572000														35			10		0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782265	134782265	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:134782265C>T	uc003lav.3	-	0	774	c.534G>A	c.(532-534)ctG>ctA	p.L178L		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	178	Ser-rich.					nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGATGATTTCAGTGATTTTC	0.488000														80			27		0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58055936	58055936	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:58055936G>A	uc021rtp.1	-	2	631	c.582C>T	c.(580-582)ttC>ttT	p.F194F	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Silent_p.F72F	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAACCTACCTGAATTTTTTCA	0.338000														77			30		0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113346348	113346348	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113346348C>T	uc001tuc.3	+	1	294	c.188C>T	c.(187-189)tCc>tTc	p.S63F	OAS1_uc010syn.2_Missense_Mutation_p.S62F|OAS1_uc010syo.2_Missense_Mutation_p.S62F|OAS1_uc001tub.3_Missense_Mutation_p.S63F|OAS1_uc001tud.3_Missense_Mutation_p.S63F|OAS1_uc009zwf.3_Missense_Mutation_p.S62F	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	63					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CAGGGTGGCTCCTCAGGCAAG	0.478000														42			20		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141497184	141497184	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:141497184C>T	uc011bnd.2	+	0	142	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	20					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.A19T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CCTGCAGGCCCGGAAGCCCTC	0.697000														72			35		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43610138	43610138	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:43610138C>T	uc003bdt.2	-	15	2138	c.2011G>A	c.(2011-2013)Ggg>Agg	p.G671R		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	671					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				AGACCAAGCCCGTCGCTGCTG	0.647000														30			14		0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6594260	6594260	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:6594260C>T	uc002gdj.3	-	10	1364	c.1276_splice	c.e10-1	p.A426_splice	SLC13A5_uc010clq.3_Splice_Site_p.A383_splice|SLC13A5_uc002gdk.3_Splice_Site_p.A409_splice|SLC13A5_uc010vtf.2_Splice_Site_p.A426_splice	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	426						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GCCCCGAGGCCTGGGAAGCAC	0.642000														36			35		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121745926	121745926	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:121745926G>A	uc010flp.3	+	12	2466	c.2436G>A	c.(2434-2436)acG>acA	p.T812T	GLI2_uc002tmq.1_Silent_p.T484T|GLI2_uc002tmr.1_Silent_p.T467T|GLI2_uc002tmt.4_Silent_p.T484T|GLI2_uc002tmu.4_Silent_p.T467T	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	812	Ser-rich.				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCACCAGCACGGTCAGCTCGG	0.746000														17			9		0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179560	90179560	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:90179560T>C	uc001dnl.4	+	2	1673	c.1431T>C	c.(1429-1431)tgT>tgC	p.C477C		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	477						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGCACCAGTGTTCTGTCAAAA	0.463000														86			36		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12711243	12711243	+	Silent	SNP	C	T	T	rs140616597		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12711243C>T	uc001auf.3	+	1	270	c.270C>T	c.(268-270)acC>acT	p.T90T		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	90						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TTGTGGTGACCGACCTGCGTT	0.502000														107			44		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71394475	71394475	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:71394475G>A	uc010dfm.3	-	22	3187	c.3187C>T	c.(3187-3189)Ccc>Tcc	p.P1063S	SDK2_uc002jjt.4_Missense_Mutation_p.P222S|SDK2_uc010dfn.2_Missense_Mutation_p.P742S	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1063	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.P1063S(2)		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						CAGGTGAAGGGGTTGAGGTCG	0.637000														82			23		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671965	49671965	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:49671965G>A	uc002efs.3	-	4	1396	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	ZNF423_uc010vgn.2_Silent_p.S249S	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	366					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CGCTGCTCATGGAGGCCACGC	0.662000														26			4		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158623135	158623135	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158623135G>A	uc001fst.1	-	21	3316	c.3117C>T	c.(3115-3117)ttC>ttT	p.F1039F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1039					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.F1039F(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGAGCATCGGGAACTCATCGT	0.562000														85			40		0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138235915	138235915	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:138235915C>T	uc003vuc.3	+	7	1466	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	TRIM24_uc003vub.3_Silent_p.I417I|TRIM24_uc022amn.1_Silent_p.I375I	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	417					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CTCAAAATATCATCAACTTAG	0.418000														150			61		0	0	1	0	0
TMEM63A	9725	broad.mit.edu	37	1	226065251	226065251	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:226065251C>A	uc001hpm.2	-	2	652	c.30G>T	c.(28-30)tgG>tgT	p.W10C	TMEM63A_uc010pvi.1_Missense_Mutation_p.W10C	NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	10						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CCTTGGACTGCCACAGCTCCA	0.592000											OREG0014291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			11		6.42651e-13	6.45402e-13	1	1	0
FAM47B	170062	broad.mit.edu	37	X	34962328	34962328	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:34962328G>A	uc004ddi.2	+	0	1416	c.1380G>A	c.(1378-1380)tcG>tcA	p.S460S		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	460										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GACACACATCGAGAAAACTCC	0.468000														76			14		0	0	1	0	0
UBR3	130507	broad.mit.edu	37	2	170863617	170863617	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170863617C>T	uc010zdi.2	+	27	4147	c.4147C>T	c.(4147-4149)Cct>Tct	p.P1383S	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_Missense_Mutation_p.P204S|UBR3_uc002uft.4_Missense_Mutation_p.P236S|UBR3_uc010zdj.2_Missense_Mutation_p.P45S	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1383					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GGAAAATAACCCTTGGCAACG	0.483000														40			11		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64527202	64527202	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:64527202C>T	uc003dmg.3	-	34	5324	c.5292_splice	c.e34+1	p.K1764_splice	ADAMTS9_uc011bfo.2_Splice_Site_p.K1736_splice|ADAMTS9_uc011bfp.1_Splice_Site_p.K675_splice	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1764	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGACATTCACCTTCAGAAGCT	0.398000														112			36		0	0	1	0	0
MFAP5	8076	broad.mit.edu	37	12	8814653	8814653	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8814653G>A	uc001qut.1	-	1	261	c.48C>T	c.(46-48)atC>atT	p.I16I	MFAP5_uc001qus.2_Silent_p.I16I|MFAP5_uc009zge.1_Silent_p.I16I	NM_003480	NP_003471	Q13361	MFAP5_HUMAN	Homo sapiens microfibrillar associated protein 5 (MFAP5), mRNA.	16						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					CAGAGGTGATGATGAATGCAG	0.512000														23			10		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72889588	72889588	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:72889588C>T	uc003pga.3	+	4	859	c.782C>T	c.(781-783)tCc>tTc	p.S261F	RIMS1_uc011dyb.2_5'Flank|RIMS1_uc003pgc.3_5'Flank|RIMS1_uc003pgb.4_5'Flank	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	261					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.S260P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAGGCTTCATCCAGGTCTAGA	0.527000														11			6		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67064772	67064772	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:67064772G>A	uc003xvv.3	+	7	1372	c.1146G>A	c.(1144-1146)gtG>gtA	p.V382V	TRIM55_uc003xvu.3_Silent_p.V382V|TRIM55_uc003xvw.3_Silent_p.V382V|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	382						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TCTCTCAGGTGGAGCTGCAGG	0.552000														67			15		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43251399	43251400	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43251399_43251400GG>AA	uc003ouq.1	+	13	3200_3201	c.2921_2922GG>AA	c.(2920-2922)ggg>gAA	p.G974E	TTBK1_uc021yzs.1_Missense_Mutation_p.G262E	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	974						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GTGGAGGAGGGGGCCCGAGCGC	0.688000														44			33		0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68021793	68021793	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:68021793G>A	uc010cey.3	-	8	1332	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C	DPEP2_uc002eve.3_Missense_Mutation_p.R390C|DPEP2_uc002evf.3_Non-coding_Transcript	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	390					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		AGGTTTCCACGAAGGACACCC	0.562000														179			31		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119923749	119923749	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:119923749G>A	uc001ehr.1	+	1	173	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	HAO2_uc001ehq.1_Missense_Mutation_p.R14Q	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	14	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	p.R14L(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GCCCATGCGCGAGAGCAGCTG	0.468000														154			63		0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50474954	50474954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50474954C>T	uc010ybk.1	+	1	114	c.8C>T	c.(7-9)tCc>tTc	p.S3F	SIGLEC16_uc002prf.3_Intron					Homo sapiens cDNA FLJ50062 complete cds, highly similar to Sialic acid-binding Ig-like lectin 11 precursor.											endometrium(2)|kidney(2)|lung(6)	10						GTGATGGTTTCCCAAGCAAAC	0.597000														97			30		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52031002	52031002	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52031002C>T	uc002pwy.3	-	7	1396	c.1188_splice	c.e7+1	p.R396_splice	SIGLEC6_uc002pwz.3_Splice_Site_p.R380_splice|SIGLEC6_uc010ydb.2_Splice_Site_p.R344_splice|SIGLEC6_uc010ydc.2_Intron|SIGLEC6_uc002pxa.3_Intron|SIGLEC6_uc010eoz.2_Intron	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	396					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTCACTCACCCTGGAGCCTGA	0.488000														164			35		0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27360043	27360043	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27360043G>A	uc002rjb.2	-	2	1735	c.1155C>T	c.(1153-1155)gtC>gtT	p.V385V	PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|C2orf53_uc021vfb.1_Silent_p.V385V	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	385										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGGTAGTGACCTGTTTTG	0.582000														83			32		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11186751	11186751	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11186751G>A	uc001asd.3	-	45	6575	c.6454C>T	c.(6454-6456)Cgc>Tgc	p.R2152C	MTOR_uc001asc.3_Missense_Mutation_p.R357C	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2152					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GACTGAATGCGAATGATTGGC	0.493000														74			34		0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38723952	38723952	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:38723952G>A	uc001wum.1	-	0	1623	c.1276C>T	c.(1276-1278)Cac>Tac	p.H426Y		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	426						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	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;0.00439)		GGGCTTTCGTGAAAGCAGAGC	0.562000														32			25		0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233393629	233393629	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233393629G>T	uc002vsw.3	+	5	571	c.567G>T	c.(565-567)gaG>gaT	p.E189D	CHRND_uc021vyi.1_Intron|CHRND_uc010zmg.2_Missense_Mutation_p.E174D|CHRND_uc010zmh.2_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	189					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		ATGCCAAGGAGAACCGCACCT	0.587000														94			15		0.00316338	0.00316527	1	1	0
ATG2B	55102	broad.mit.edu	37	14	96788538	96788538	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:96788538G>A	uc001yfi.3	-	17	3155	c.2790C>T	c.(2788-2790)atC>atT	p.I930I		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	930										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GAGAATTGCTGATTGCTTTAT	0.333000														50			30		0	0	1	0	0
SFXN2	118980	broad.mit.edu	37	10	104495636	104495636	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104495636C>T	uc001kwb.2	+	10	1005	c.839C>T	c.(838-840)cCa>cTa	p.P280L	SFXN2_uc001kwc.2_Non-coding_Transcript	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	Homo sapiens sideroflexin 2 (SFXN2), mRNA.	280					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TTCATGGTGCCAGTGGCGTGT	0.542000														130			11		0	0	1	0	0
CHRM1	1128	broad.mit.edu	37	11	62677322	62677322	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62677322G>A	uc021qko.1	-	0	1251	c.1251C>T	c.(1249-1251)tgC>tgT	p.C417C	CHRM1_uc001nwi.3_Silent_p.C417C	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	417					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	AGAGTGCGTAGCACATGGGGT	0.607000														146			37		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193120444	193120444	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:193120444G>A	uc003ftd.3	-	29	3696	c.3588C>T	c.(3586-3588)ctC>ctT	p.L1196L	ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	1196					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATGTCCTTCAGAGTTGTTCTT	0.433000														27			24		0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100125744	100125744	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:100125744C>T	uc004egj.3	-	1	311	c.105G>A	c.(103-105)aaG>aaA	p.K35K	NOX1_uc004egl.4_Silent_p.K35K|NOX1_uc010nne.3_Silent_p.K35K	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	35					FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						ATTTGTCGGCCTTCTCATATT	0.378000														42			38		0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9515755	9515755	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:9515755G>A	uc010coc.3	+	8	1243	c.1014G>A	c.(1012-1014)gcG>gcA	p.A338A	WDR16_uc002gly.3_Silent_p.A328A|WDR16_uc002glz.3_Silent_p.A260A			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	328						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.D337D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CGCTCATAGCGACTTGTCACT	0.433000														31			22		0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26517895	26517895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26517895C>T	uc010oez.2	+	1	331	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	CATSPER4_uc010oey.1_5'UTR|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	111					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CACCATCGCTCTCCGTACCAA	0.597000														40			17		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177247706	177247706	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:177247706C>T	uc001glf.3	+	6	1332	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	FAM5B_uc010pna.1_Silent_p.F90F|FAM5B_uc001glg.3_Silent_p.F235F	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	340						extracellular region				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						CAGAAGAGTTCCAGGCCCTGC	0.587000														275			37		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101336183	101336183	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:101336183G>A	uc010svm.1	+	4	898	c.326G>A	c.(325-327)gGa>gAa	p.G109E	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.G74E|ANO4_uc001thx.2_Missense_Mutation_p.G109E	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	109						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						AAATCAAATGGACTTTACTTT	0.368000										HNSCC(74;0.22)				105			24		0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81251861	81251861	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:81251861G>A	uc001xux.2	-	13	1760	c.1589C>T	c.(1588-1590)aCc>aTc	p.T530I	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	530						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						ATACAGCTGGGTTTTCAATTC	0.368000														15			5		0	0	1	0	0
KCNJ11	3767	broad.mit.edu	37	11	17408842	17408842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17408842G>A	uc001mna.3	-	0	1365	c.797C>T	c.(796-798)cCa>cTa	p.P266L	KCNJ11_uc001mnb.4_Missense_Mutation_p.P179L	NM_000525	NP_001159762	B4DWI4	B4DWI4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA.	179						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		GTCGTAGAGTGGGCTGTTGGC	0.607000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		76			30		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234858655	234858655	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234858655C>T	uc002vvh.3	+	8	1045	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	TRPM8_uc010fyj.3_Silent_p.I23I	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	335						integral to membrane		p.I335I(2)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CGGGCCAGATCGCTGATGTGA	0.552000														42			18		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43252892	43252892	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:43252892G>A	uc002lbe.3	+	16	3073	c.2257G>A	c.(2257-2259)Ggc>Agc	p.G753S	SLC14A2_uc010dnj.3_Missense_Mutation_p.G753S	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	753						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGTTGGAATTGGCCAAGTGTA	0.478000														100			31		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17373487	17373487	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17373487C>T	uc002nfs.1	-	3	629	c.516G>A	c.(514-516)gaG>gaA	p.E172E	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Silent_p.E108E|USHBP1_uc010eam.1_Silent_p.E100E	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	172							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GGCGAGCTGCCTCTCGCTGGC	0.677000														114			11		0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93098092	93098092	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:93098092A>G	uc003umv.2	-	7	810	c.510T>C	c.(508-510)gcT>gcC	p.A170A	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Silent_p.A152A|CALCR_uc003umw.2_Silent_p.A152A	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	152					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GACCCACAATAGCCAAATAGT	0.343000														54			15		0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105169497	105169497	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105169497C>T	uc001ypb.2	+	2	590	c.447C>T	c.(445-447)gcC>gcT	p.A149A	INF2_uc001yoy.4_Silent_p.A149A|INF2_uc001ypc.2_Silent_p.A149A	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	149	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TACTGGCTGCCCTGTGCATCT	0.652000														40			14		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136587237	136587237	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136587237C>T	uc002tuu.1	-	2	741	c.730G>A	c.(730-732)Gat>Aat	p.D244N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	244	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGAGGAAATCGACCGTGTCC	0.408000														78			33		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155408848	155408848	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155408848G>A	uc009wqq.3	-	4	5578	c.5098C>T	c.(5098-5100)Ccc>Tcc	p.P1700S	ASH1L_uc001fkt.3_Missense_Mutation_p.P1700S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1700	Ser-rich.				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)			CTTCGAGAGGGAACTCCGTTT	0.413000														58			15		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	20998468	20998468	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:20998468G>A	uc001bdr.4	-	11	2803	c.2685C>T	c.(2683-2685)atC>atT	p.I895I	KIF17_uc001bdp.4_Silent_p.I173I|KIF17_uc009vpx.3_Silent_p.I265I|KIF17_uc001bds.4_Silent_p.I895I	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	895					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGGGATGTGGGATCTTCCAGA	0.572000														103			14		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175576	143175576	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143175576T>A	uc003wdc.1	+	0	611	c.611T>A	c.(610-612)aTt>aAt	p.I204N	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	204					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					ATGCTGTTAATTAATTCTCTG	0.463000														51			24		0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63963095	63963095	+	Nonsense_Mutation	SNP	G	A	A	rs2942671		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:63963095G>A	uc001srp.1	-	20	2216	c.2035C>T	c.(2035-2037)Cga>Tga	p.R679*	DPY19L2_uc010sso.1_Nonsense_Mutation_p.R126*	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	679					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GCAGATTTTCGACTATATGTA	0.264000														102			31		0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127343298	127343298	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:127343298C>T	uc003vmi.3	+	6	987	c.761C>T	c.(760-762)tCg>tTg	p.S254L		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	254	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TTCACTGAGTCGCGACTGCTT	0.493000														75			37		0	0	1	0	0
SUSD5	26032	broad.mit.edu	37	3	33249379	33249379	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:33249379G>A	uc003cfo.1	-	2	748	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_015551	NP_056366	O60279	SUSD5_HUMAN	Homo sapiens sushi domain containing 5 (SUSD5), mRNA.	110	Link.				cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAGCTCTCATGATTTGCTGTT	0.418000														71			30		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687892	61687892	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:61687892C>T	uc002eog.2	-	11	2975	c.2020G>A	c.(2020-2022)Gag>Aag	p.E674K		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	674					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTGTCCTCCTCCCCTCCTCCT	0.383000														134			61		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841080	13841080	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13841080C>T	uc003jfd.2	-	33	5686	c.5644G>A	c.(5644-5646)Gaa>Aaa	p.E1882K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1882	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)					TTCACTCGTTCCGTGGAACTC	0.398000									Kartagener syndrome					84			17		0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24974859	24974859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:24974859C>T	uc002rfk.3	+	17	3974	c.3715C>T	c.(3715-3717)Ccc>Tcc	p.P1239S	NCOA1_uc010eye.3_Missense_Mutation_p.P1239S|NCOA1_uc002rfi.3_Missense_Mutation_p.P1088S|NCOA1_uc002rfj.3_Missense_Mutation_p.P1239S|NCOA1_uc002rfl.3_Missense_Mutation_p.P1239S|NCOA1_uc010eyf.3_Missense_Mutation_p.P132S	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	1239									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAATGGTTCCCCAAGGTGA	0.418000			T	PAX3	alveolar rhadomyosarcoma									63			33		0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11414274	11414274	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:11414274G>A	uc003wty.3	+	8	1461	c.880G>A	c.(880-882)Gag>Aag	p.E294K		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	294	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCTGCAGCACGAGCGGCTGGT	0.577000														49			17		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83180398	83180398	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:83180398C>T	uc001paj.2	-	19	2453	c.2150G>A	c.(2149-2151)cGa>cAa	p.R717Q	DLG2_uc001pai.2_Missense_Mutation_p.R596Q|DLG2_uc010rsy.1_Missense_Mutation_p.R666Q|DLG2_uc021qof.1_Missense_Mutation_p.R756Q|DLG2_uc010rsz.1_Missense_Mutation_p.R713Q|DLG2_uc010rta.1_Missense_Mutation_p.R699Q|DLG2_uc001pak.2_Missense_Mutation_p.R822Q|DLG2_uc010rtb.1_Missense_Mutation_p.R684Q|DLG2_uc010rsx.1_Missense_Mutation_p.R194Q|DLG2_uc010rsw.1_Missense_Mutation_p.R181Q	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	717	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.R717*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTCGTAGTCTCGCTTTGGCCT	0.388000														121			27		0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99934391	99934391	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:99934391C>T	uc004egd.4	-	16	1933	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E	SYTL4_uc004egc.3_5'Flank|SYTL4_uc010nnb.3_Missense_Mutation_p.G198E|SYTL4_uc010nnc.3_Missense_Mutation_p.G526E|SYTL4_uc004ege.4_Missense_Mutation_p.G526E|SYTL4_uc004egf.4_Missense_Mutation_p.G526E	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	526	C2 2.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGGAGCTCTCCCCCTTCCCC	0.512000														14			31		0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196749920	196749920	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:196749920G>A	uc003fxk.4	-	4	666	c.552C>T	c.(550-552)tcC>tcT	p.S184S	MFI2_uc003fxl.4_Silent_p.S184S|MFI2_uc011bua.2_Intron	NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	184	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GGCGACAGAGGGACTCAGAGT	0.617000														29			25		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122839956	122839956	+	Silent	SNP	G	A	A	rs145044274		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:122839956G>A	uc003vkm.3	-	0	70	c.45C>T	c.(43-45)ttC>ttT	p.F15F	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	15						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TGAAAACCACGAAGAGAAATC	0.428000														48			16		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42113041	42113041	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42113041C>T	uc001zok.4	+	23	2797	c.2511C>T	c.(2509-2511)tcC>tcT	p.S837S	MAPKBP1_uc010bci.3_Silent_p.S831S|MAPKBP1_uc010udb.2_Silent_p.S670S|MAPKBP1_uc001zoj.4_Silent_p.S831S|MAPKBP1_uc010bcj.3_Silent_p.S338S|MAPKBP1_uc010bck.3_Silent_p.S48S|MAPKBP1_uc010bcl.3_Silent_p.S338S	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	837										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CACAGGAGTCCGTGGGGTTCC	0.572000														25			11		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1562025	1562025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:1562025G>A	uc002fte.3	-	32	5285	c.5171C>T	c.(5170-5172)cCt>cTt	p.P1724L		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1724	Involved in interaction with pre-mRNA 5' splice site.					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTGTATGAGAGGCTTGCTGCC	0.498000														26			25		0	0	1	0	0
NPIPL1	440350	broad.mit.edu	37	16	28354373	28354373	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:28354373G>A	uc010vcr.2	-	6	1519	c.833C>T	c.(832-834)tCc>tTc	p.S278F	NPIPL1_uc010vcq.2_Missense_Mutation_p.S260F					SubName: Full=Uncharacterized protein;											lung(1)	1						GAGGCTCAGGGAGTTATCAGT	0.507000														75			24		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907749	12907749	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12907749G>A	uc010obf.2	-	1	620	c.394C>T	c.(394-396)Cct>Tct	p.P132S	LOC649330_uc009vno.2_Missense_Mutation_p.P132S	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	132							nucleic acid binding|nucleotide binding										GGAGGAGGAGGAGGTACACGT	0.498000														209			34		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53997401	53997401	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:53997401G>A	uc002acj.2	-	10	1174	c.1132C>T	c.(1132-1134)Caa>Taa	p.Q378*	WDR72_uc010bfi.1_Nonsense_Mutation_p.Q378*	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	378										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAATTATCTTGAAGAGTCCAG	0.353000														72			23		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175360448	175360448	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175360448G>A	uc001gkp.1	-	4	1564	c.1483C>T	c.(1483-1485)Cct>Tct	p.P495S	TNR_uc009wwu.1_Missense_Mutation_p.P495S	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	495	Fibronectin type-III 2.				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)					GCCGAGGTAGGGGGGCTGCGG	0.557000														62			31		0	0	1	0	0
TMEM19	55266	broad.mit.edu	37	12	72092736	72092736	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:72092736T>C	uc001sws.3	+	4	1277	c.694T>C	c.(694-696)Ttt>Ctt	p.F232L	TMEM19_uc001swr.1_Missense_Mutation_p.F218L	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	232						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TGGTGGTACCTTTGTGGGCAT	0.453000														104			61		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887440	3887440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:3887440C>T	uc003bpt.4	+	1	1876	c.1115C>T	c.(1114-1116)cCc>cTc	p.P372L	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.P372L	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	372	LRRCT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CATAGCAATCCCCTCAGGTGT	0.488000														71			21		0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119985684	119985684	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:119985684G>A	uc001ehu.3	+	3	663	c.491G>A	c.(490-492)gGa>gAa	p.G164E				P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNA.	0					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GCCTGGGGAGGAGATAAAGCA	0.483000														28			8		0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76257129	76257129	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:76257129C>T	uc001oxl.3	+	19	3705	c.3562C>T	c.(3562-3564)Ccc>Tcc	p.P1188S	C11orf30_uc001oxm.3_Missense_Mutation_p.P1090S|C11orf30_uc010rsb.2_Missense_Mutation_p.P1203S|C11orf30_uc010rsc.2_Missense_Mutation_p.P1189S|C11orf30_uc001oxn.3_Missense_Mutation_p.P1189S|C11orf30_uc010rsd.2_Missense_Mutation_p.P1097S|C11orf30_uc010rse.2_Missense_Mutation_p.P435S|C11orf30_uc001oxp.3_Intron	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	1188					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AGGATCATTACCCTCCACCCA	0.502000														67			26		0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201983066	201983066	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201983066C>T	uc001gxg.4	+	6	4107	c.915C>T	c.(913-915)ttC>ttT	p.F305F	ELF3_uc001gxi.4_Silent_p.F305F|ELF3_uc001gxh.4_Silent_p.F305F	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	305					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.L306fs*19(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TCTTCAAGTTCCTGCGCTCCG	0.592000														27			5		0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878886	5878886	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5878886G>A	uc010qzr.2	-	0	47	c.47C>T	c.(46-48)tCt>tTt	p.S16F	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGGAATGAAGAAGGATGGAA	0.433000														159			57		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50733414	50733414	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:50733414C>T	uc002egm.1	+	1	194	c.89C>T	c.(88-90)tCg>tTg	p.S30L	NOD2_uc010cbj.1_Missense_Mutation_p.S3L|NOD2_uc021tia.1_5'UTR|NOD2_uc010cbk.1_Missense_Mutation_p.S3L|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	30	CARD 1.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAAATGTGCTCGCAGGAGGCT	0.612000														166			88		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184099561	184099561	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:184099561C>T	uc003fov.3	+	4	815	c.569C>T	c.(568-570)tCg>tTg	p.S190L	CHRD_uc003fow.3_5'UTR|CHRD_uc003fox.3_Missense_Mutation_p.S190L|CHRD_uc003foy.3_5'UTR|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'Flank	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	190	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCGAGTCTCGCTGCTGCGC	0.662000														17			13		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13612089	13612089	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:13612089C>T	uc011avc.2	+	1	616	c.234C>T	c.(232-234)ttC>ttT	p.F78F	FBLN2_uc011auz.2_Silent_p.F104F|FBLN2_uc011avb.2_Silent_p.F78F|FBLN2_uc011ava.2_Silent_p.F78F	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	78	N.|Subdomain NA (Cys-rich).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGGGTGGCTTCGTGCGCGGCC	0.657000														7			3		0	0	1	0	0
ATP5B	506	broad.mit.edu	37	12	57032176	57032176	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57032176G>A	uc001slr.3	-	9	1626	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	BAZ2A_uc001slq.1_5'Flank|BAZ2A_uc010sqr.1_5'Flank	NM_001686	NP_001677	P06576	ATPB_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide (ATP5B), nuclear gene encoding mitochondrial protein, mRNA.	507					ATP hydrolysis coupled proton transport|angiogenesis|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|MHC class I protein binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCACCATATAGAAGGCCTGTT	0.458000														109			55		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439455	150439455	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150439455G>A	uc022apw.1	+	5	980	c.840G>A	c.(838-840)agG>agA	p.R280R	GIMAP1-GIMAP5_uc003whr.2_Silent_p.R76R	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		GGAACGGGAGGAAAGTCCTGG	0.582000														48			28		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228526038	228526038	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228526038G>A	uc009xez.1	+	67	17093	c.17049G>A	c.(17047-17049)gaG>gaA	p.E5683E	OBSCN_uc001hsn.3_Silent_p.E5683E|OBSCN_uc001hsr.1_Silent_p.E311E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5683					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCCTGGGGAGGCTGTGTCTG	0.632000														8			6		0	0	1	0	0
TMEM74B	55321	broad.mit.edu	37	20	1161580	1161580	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:1161580C>T	uc002weq.1	-	1	1355	c.683G>A	c.(682-684)aGa>aAa	p.R228K	TMEM74B_uc010gaa.1_Missense_Mutation_p.R228K	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	Homo sapiens transmembrane protein 74B (TMEM74B), mRNA.	228						integral to membrane	protein binding										ATTGAGCTGTCTCATGCGCAG	0.602000														74			37		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160114869	160114869	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:160114869G>A	uc003lym.1	-	4	1060	c.213C>T	c.(211-213)acC>acT	p.T71T	ATP10B_uc003lyp.2_Silent_p.T71T|ATP10B_uc011deg.1_Silent_p.T115T|ATP10B_uc003lyo.2_5'Flank	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	71					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(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTTGTGCAGGTTCTGTTGC	0.473000														152			47		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656113	40656113	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:40656113C>T	uc002rrx.3	-	0	1332	c.1308G>A	c.(1306-1308)ttG>ttA	p.L436L	SLC8A1_uc002rry.3_Silent_p.L436L|SLC8A1_uc002rsb.2_Silent_p.L436L|SLC8A1_uc002rrz.3_Silent_p.L436L|SLC8A1_uc002rsa.3_Silent_p.L436L|SLC8A1_uc002rsd.4_Silent_p.L436L|SLC8A1_uc010fan.1_Silent_p.L436L|SLC8A1_uc002rsc.1_Silent_p.L436L	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	436	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAGTGTTAGTCAAATCACCAC	0.443000														79			26		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7621837	7621837	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:7621837G>A	uc021pmv.1	-	8	1405	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	ITIH5_uc021pmu.1_Silent_p.I219I|ITIH5_uc001ijr.2_Silent_p.I433I	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	433	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAATGGTGAAGATGCAGACTT	0.617000														67			27		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179621192	179621192	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179621192C>T	uc010pnp.2	+	12	2538	c.2020C>T	c.(2020-2022)Cct>Tct	p.P674S	TDRD5_uc021pfm.1_Missense_Mutation_p.P674S|TDRD5_uc001gnf.2_Missense_Mutation_p.P674S|TDRD5_uc021pfn.1_Missense_Mutation_p.P674S|TDRD5_uc001gnh.2_Missense_Mutation_p.P229S	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	674					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGAGCTCAACCCTTTAGCTTT	0.398000														100			9		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27801932	27801932	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27801932G>A	uc002rkz.4	+	0	2544	c.2493G>A	c.(2491-2493)atG>atA	p.M831I		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	831										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GGAAGCAAATGGAGGAGCTAG	0.438000														103			38		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51914613	51914613	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51914613T>G	uc002pwo.3	-	10	2056	c.1834A>C	c.(1834-1836)Aat>Cat	p.N612H	SIGLEC10_uc002pwp.3_Missense_Mutation_p.N554H|SIGLEC10_uc021uyl.1_Missense_Mutation_p.N434H|SIGLEC10_uc002pwq.3_Missense_Mutation_p.N459H|SIGLEC10_uc010ycz.2_Missense_Mutation_p.N469H|SIGLEC10_uc002pws.2_Missense_Mutation_p.N369H|SIGLEC10_uc002pwr.3_Missense_Mutation_p.N517H|SIGLEC10_uc010ycy.2_Missense_Mutation_p.N427H|SIGLEC10_uc010eow.3_Missense_Mutation_p.N329H	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	612					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCTTTCTGATTCCGCTTCTGA	0.502000														63			23		0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37673727	37673727	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:37673727C>T	uc010cvv.3	+	9	3467	c.2881C>T	c.(2881-2883)Cct>Tct	p.P961S	CDK12_uc010wef.1_Missense_Mutation_p.P960S|CDK12_uc002hrw.4_Missense_Mutation_p.P961S	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	961	Protein kinase.				RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGCTGTGTGGCCTGATGTTAT	0.448000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				114			53		0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154147141	154147141	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:154147141G>A	uc003faa.3	-	0	364	c.264C>T	c.(262-264)ttC>ttT	p.F88F		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	88						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I87I(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCAAAAACATGAAGATGGTCA	0.483000														129			21		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954625	70954625	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:70954625C>T	uc002ezr.3	-	45	7802	c.7651G>A	c.(7651-7653)Ggg>Agg	p.G2551R		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2552										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)				tcctcctccccttccccctcc	0.647000														7			3		0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541145	40541145	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40541145G>A	uc002omu.3	-	4	1686	c.1621C>T	c.(1621-1623)Cac>Tac	p.H541Y	ZNF780B_uc002omv.3_Missense_Mutation_p.H393Y	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGTTGTAGGTGAAGTCTAAAA	0.418000														106			13		0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26128028	26128028	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:26128028G>A	uc001uqk.3	+	11	1297	c.1155G>A	c.(1153-1155)gtG>gtA	p.V385V	ATP8A2_uc010tdi.2_Silent_p.V345V|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Silent_p.V345V	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	345					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTGAGGTTGTGAAGTATACTC	0.383000														90			42		0	0	1	0	0
TMEM211	255349	broad.mit.edu	37	22	25331309	25331309	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25331309C>T	uc003abk.1	-	2	406	c.381G>A	c.(379-381)atG>atA	p.M127I		NM_001001663	NP_001001663	Q6ICI0	TM211_HUMAN	Homo sapiens transmembrane protein 211 (TMEM211), mRNA.	198						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTTATTTGTTCATTTCTGGCA	0.483000														101			40		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215807904	215807904	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:215807904C>T	uc001hku.1	-	69	15581	c.15194G>A	c.(15193-15195)aGa>aAa	p.R5065K		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	5065					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)		GTGGATTTTTCTTTGTAGTAT	0.448000										HNSCC(13;0.011)				75			24		0	0	1	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332600	71332600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:71332600C>T	uc001jpp.3	-	1	446	c.200G>A	c.(199-201)gGa>gAa	p.G67E	NEUROG3_uc021pry.1_Missense_Mutation_p.G67E	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN	Homo sapiens neurogenin 3 (NEUROG3), mRNA.	67					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CCGGCTGCGTCCCCCGCGCCG	0.697000														9			4		0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149840229	149840229	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:149840229G>A	uc010zbu.2	+	14	2060	c.1665G>A	c.(1663-1665)ttG>ttA	p.L555L	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twt.3_Silent_p.L107L	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	555					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ATTTGCTGTTGAAAGATCTGG	0.453000														35			15		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149882467	149882467	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:149882467C>T	uc001etg.3	-	3	1357	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	SV2A_uc001eth.2_Missense_Mutation_p.R289Q	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	289					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ATGCTCCCCTCGTTTCTCCTG	0.527000														44			8		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82402423	82402423	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:82402423G>A	uc001dit.4	+	4	480	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	LPHN2_uc001dis.3_Missense_Mutation_p.R100Q|LPHN2_uc001diu.3_Missense_Mutation_p.R100Q|LPHN2_uc001div.3_Missense_Mutation_p.R100Q|LPHN2_uc009wcd.3_Missense_Mutation_p.R100Q	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	100	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGCAACAATCGAACACAGTGT	0.318000														87			39		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156135	155156135	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155156135G>A	uc003inw.2	-	24	8304	c.8304C>T	c.(8302-8304)acC>acT	p.T2768T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2768					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CATGATCAGAGGTCGTCTGAG	0.418000														98			45		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167882460	167882460	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:167882460C>T	uc003lzu.3	+	18	2851	c.2758C>T	c.(2758-2760)Cga>Tga	p.R920*	WWC1_uc003lzv.3_Nonsense_Mutation_p.R920*|WWC1_uc011den.2_Nonsense_Mutation_p.R920*|WWC1_uc003lzw.3_Nonsense_Mutation_p.R719*|WWC1_uc010jjf.1_Nonsense_Mutation_p.R192*	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	920	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCCATTTCTTCGAGGGAGCAC	0.642000														151			31		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51993386	51993386	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51993386G>A	uc002abh.3	+	9	1555	c.1152G>A	c.(1150-1152)aaG>aaA	p.K384K	SCG3_uc010ufz.2_Silent_p.K152K	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	384					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GAAGCTTGAAGGATTCCACAA	0.423000														83			34		0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64275848	64275848	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:64275848C>T	uc002amr.3	-	2	229	c.198G>A	c.(196-198)gtG>gtA	p.V66V	DAPK2_uc010uim.2_Non-coding_Transcript|DAPK2_uc010bgu.1_Silent_p.V56V	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	66	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		CCTCCCGGCTCACACCGCGCC	0.622000														77			14		0	0	1	0	0
SLC9A7	84679	broad.mit.edu	37	X	46522065	46522065	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:46522065C>T	uc004dgu.1	-	5	815	c.807G>A	c.(805-807)gcG>gcA	p.A269A	SLC9A7_uc004dgv.1_Silent_p.A269A	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	269					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	p.A269V(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CATTAAATATCGCCAGCACAG	0.403000														16			20		0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38678933	38678933	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:38678933C>T	uc021rsi.1	+	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F	SSTR1_uc001wul.1_Silent_p.F113F	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	113					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)	GCGTGCCCTTCCTAGTCACCT	0.572000														202			50		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17017874	17017874	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17017874G>A	uc002nfb.3	-	29	4088	c.4056C>T	c.(4054-4056)ccC>ccT	p.P1352P		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1305						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCATGGCCAGGGGCGCAGCAG	0.662000														18			8		0	0	1	0	0
TTLL13	440307	broad.mit.edu	37	15	90794047	90794047	+	Missense_Mutation	SNP	C	T	T	rs144811975		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90794047C>T	uc002bpd.1	+	1	473	c.185C>T	c.(184-186)cCg>cTg	p.P62L	TTLL13_uc002bpe.1_Non-coding_Transcript	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	62					protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			ACAAAAATTCCGAAGAAAGTC	0.478000														139			103		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402151	89402151	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89402151G>A	uc010upo.1	+	11	6709	c.6335G>A	c.(6334-6336)gGg>gAg	p.G2112E	ACAN_uc010upp.1_Missense_Mutation_p.G2112E|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2112					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)			GCTGGGTTCGGGGCATCTGCC	0.552000														80			21		0	0	1	0	0
IGF1	3479	broad.mit.edu	37	12	102869555	102869555	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:102869555G>A	uc001tjp.4	-	1	305	c.86C>T	c.(85-87)tCc>tTc	p.S29F	IGF1_uc001tjn.2_Missense_Mutation_p.S13F|IGF1_uc001tjm.2_Missense_Mutation_p.S29F|IGF1_uc001tjo.2_Missense_Mutation_p.S29F	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	29					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						GAGATGCGAGGAGGACATGGT	0.597000														24			4		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55976628	55976628	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:55976628G>A	uc003has.3	-	8	1499	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	KDR_uc003hat.1_Silent_p.I399I|KDR_uc011bzx.2_Silent_p.I399I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	399	Ig-like C2-type 4.				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.V398A(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)	GATTGGTAAGGATGACAGTGT	0.423000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				67			31		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228525785	228525785	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228525785C>T	uc009xez.1	+	66	16985	c.16941C>T	c.(16939-16941)acC>acT	p.T5647T	OBSCN_uc001hsn.3_Silent_p.T5647T|OBSCN_uc001hsr.1_Silent_p.T275T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5647	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.A5646V(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAAGCCCACCAAGTCCAGCC	0.652000														15			6		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537102	5537102	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5537102G>A	uc001maz.4	-	0	855	c.570C>T	c.(568-570)ttC>ttT	p.F190F	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	190										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		ACTGCCACATGAACTCCATGT	0.473000														105			66		0	0	1	0	0
GKN1	56287	broad.mit.edu	37	2	69204639	69204640	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:69204639_69204640GG>AA	uc002sfc.3	+	1	130_131	c.67_68GG>AA	c.(67-69)gga>AAa	p.G23K		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	Homo sapiens gastrokine 1 (GKN1), mRNA.	23					digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						TGTCTTTGCTGGACTTCTTGGA	0.371000														111			36		0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48240510	48240510	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48240510G>A	uc001rql.3	-	7	1388	c.987C>T	c.(985-987)ttC>ttT	p.F329F	VDR_uc001rqm.3_Silent_p.F279F|VDR_uc001rqn.3_Silent_p.F279F|VDR_uc010slq.2_Silent_p.F247F	NM_001017536	NP_001017536	P11473	VDR_HUMAN	Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 3, mRNA.	279	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CGTCCATGGTGAAGGACTCAT	0.552000														64			27		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189850395	189850395	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189850395C>T	uc002uqj.1	+	3	455	c.338C>T	c.(337-339)cCt>cTt	p.P113L		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	113					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTTTAGGGCCCTCCTGGTATT	0.413000														13			7		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853693	122853693	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:122853693C>T	uc003ieg.2	-	1	794	c.720G>A	c.(718-720)gcG>gcA	p.A240A	TRPC3_uc010inr.2_Silent_p.A167A|TRPC3_uc003ief.2_Silent_p.A167A|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	155					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.L239I(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGCAGTGCGCCGCCAGGATGA	0.617000														65			15		0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53721836	53721836	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:53721836G>A	uc002ehp.3	-	4	635	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	RPGRIP1L_uc002eho.4_Missense_Mutation_p.P191S|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.P191S|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.P191S|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.P191S|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.P191S	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	191					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GTAAACATGGGATGTGGAGTT	0.308000														168			17		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150696629	150696629	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:150696629G>A	uc003lty.3	-	9	1331	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Missense_Mutation_p.P203S	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	401					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAGGCGGGGGATGAGGATG	0.582000														23			5		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30024934	30024934	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:30024934G>A	uc001zcr.3	-	13	2297	c.1822C>T	c.(1822-1824)Cgc>Tgc	p.R608C	TJP1_uc010azl.3_Missense_Mutation_p.R596C|TJP1_uc001zcq.3_Missense_Mutation_p.R612C|TJP1_uc001zcs.3_Missense_Mutation_p.R608C	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	608	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTGGAGCTGCGAAGACCTCTG	0.473000														65			16		0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95680211	95680211	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:95680211G>A	uc003ygq.4	+	9	1149	c.966G>A	c.(964-966)aaG>aaA	p.K322K	ESRP1_uc003ygr.4_Silent_p.K322K|ESRP1_uc003ygs.4_Silent_p.K322K|ESRP1_uc003ygt.4_Silent_p.K322K|ESRP1_uc003ygu.4_Silent_p.K322K|ESRP1_uc003ygv.3_Silent_p.K162K|ESRP1_uc003ygw.3_Silent_p.K162K	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	322					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TTCTCTCCAAGGAAAATCAAG	0.463000														43			16		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508120	37508120	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:37508120G>A	uc021ppc.1	+	33	3411	c.3312G>A	c.(3310-3312)agG>agA	p.R1104R	ANKRD30A_uc001iza.1_Silent_p.R1104R	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1160						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAACTAAAAGGGCATCTCAAT	0.333000														183			51		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4281435	4281435	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:4281435C>T	uc003smx.3	+	42	6280	c.6141C>T	c.(6139-6141)atC>atT	p.I2047I	SDK1_uc010kso.3_Silent_p.I1303I|SDK1_uc003smy.3_Silent_p.I534I|SDK1_uc003smz.3_Silent_p.I107I	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	2047					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAAAGGGGATCTCCACCATGG	0.602000														30			10		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284432	159284432	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159284432G>A	uc010piu.2	-	0	18	c.18C>T	c.(16-18)tcC>tcT	p.S6S		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TCACAAAAGTGGAATTTAGCT	0.438000														162			65		0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113703917	113703917	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113703917C>T	uc011lwo.2	-	1	582	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	LPAR1_uc004bfa.3_Missense_Mutation_p.E193K|LPAR1_uc011lwm.2_Missense_Mutation_p.E194K|LPAR1_uc004bfc.3_Missense_Mutation_p.E193K|LPAR1_uc011lwn.2_Missense_Mutation_p.E175K|LPAR1_uc004bfb.3_Missense_Mutation_p.E193K|LPAR1_uc010mub.3_Missense_Mutation_p.E193K	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	193					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GAACAATTTTCAATATCACAG	0.483000														71			41		0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37905027	37905027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:37905027G>A	uc002ogj.3	-	8	1537	c.605C>T	c.(604-606)tCa>tTa	p.S202L	ZNF569_uc002ogh.3_Missense_Mutation_p.S19L|ZNF569_uc002ogi.3_Missense_Mutation_p.S178L	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I202I(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAATGGGATGAGCTATTACC	0.353000														46			30		0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72360523	72360523	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72360523C>T	uc009xqg.3	-	1	297	c.136G>A	c.(136-138)Gag>Aag	p.E46K	PRF1_uc001jrf.4_Missense_Mutation_p.E46K	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	46	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	p.G45V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCCACACCCTCCCCGGCCAGC	0.682000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					46			6		0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47371532	47371532	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:47371532C>T	uc003crd.3	+	3	619	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	KLHL18_uc003crc.2_Nonsense_Mutation_p.Q165*|KLHL18_uc011bav.2_Nonsense_Mutation_p.Q53*|KLHL18_uc010hjq.2_Nonsense_Mutation_p.Q16*	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	165	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CTTCATCCACCAGCACTTTGT	0.532000														88			29		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107865087	107865087	+	Missense_Mutation	SNP	G	A	A	rs104886363		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:107865087G>A	uc022ccg.1	+	31	2934	c.2732G>A	c.(2731-2733)gGa>gAa	p.G911E	COL4A5_uc004enz.1_Missense_Mutation_p.G911E|COL4A5_uc004eob.1_Missense_Mutation_p.G519E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	911	Triple-helical region.		G -> E (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGACCTTTGGGAATTCCTGGC	0.423000									Alport syndrome with Diffuse Leiomyomatosis					13			6		0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177694313	177694313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:177694313G>A	uc021yiz.1	-	7	875	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S	COL23A1_uc021yiy.1_5'UTR|COL23A1_uc010jkt.2_Silent_p.A20A	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	173	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CTTACCCGGGGGCCAAAGTCT	0.557000														40			7		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779911	36779912	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36779911_36779912GG>AA	uc003cgi.2	-	1	730_731	c.239_240CC>TT	c.(238-240)ccc>cTT	p.P80L		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	80						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AAAGCTCCTCGGGGATCTTCCC	0.614000														174			73		0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62398592	62398592	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62398592G>A	uc001nua.3	-	10	1159	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	GANAB_uc001nub.3_Missense_Mutation_p.R354C|GANAB_uc001nuc.3_Missense_Mutation_p.R257C|GANAB_uc010rma.2_Missense_Mutation_p.R262C|GANAB_uc010rmb.2_Missense_Mutation_p.R240C	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	354					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GACATCCAGCGAACATCTGTC	0.537000														285			78		0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48374717	48374717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:48374717C>T	uc002phr.2	-	5	993	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	285					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	p.W284*(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		GGACGTTATTCCCATGGGAAC	0.428000														77			22		0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92953005	92953005	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92953005C>T	uc003umo.3	+	20	2066	c.1938C>T	c.(1936-1938)taC>taT	p.Y646Y	CCDC132_uc003ump.3_Silent_p.Y616Y|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Silent_p.Y366Y	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	646										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGATTATTACTTGTATGCAA	0.269000														38			9		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80729743	80729743	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:80729743C>T	uc001szd.3	+	38	4402	c.4396_splice	c.e38-1	p.P1466_splice		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTATTAACAGCCTCAGAAATT	0.328000														42			7		0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204086786	204086786	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204086786C>T	uc001ham.3	+	6	1321	c.726C>T	c.(724-726)acC>acT	p.T242T	SOX13_uc001hal.3_Silent_p.T242T|SOX13_uc010pqp.2_Silent_p.T241T|SOX13_uc010pqq.2_Silent_p.T109T	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	242	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCCTGTCACCCCTGACTCCC	0.587000														20			10		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134896036	134896036	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:134896036C>T	uc001llw.3	+	5	1122	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CTCCTGCCTTCTTTCAATACC	0.587000														15			7		0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19410551	19410551	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:19410551C>T	uc022btq.1	-	16	2235	c.2235G>A	c.(2233-2235)atG>atA	p.M745I	MAP3K15_uc004czj.2_Missense_Mutation_p.M180I|MAP3K15_uc004czk.2_Missense_Mutation_p.M220I	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	745	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCGGTTCCTTCATCGGCCCCC	0.433000														34			64		0	0	1	0	0
PPYR1	5540	broad.mit.edu	37	10	47087825	47087825	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:47087825G>A	uc001jee.3	+	2	1461	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.E348K|PPYR1_uc021ppu.1_Missense_Mutation_p.E348K	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	348					blood circulation|digestion|feeding behavior	integral to plasma membrane		p.E347E(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCCCCTGGAGGAGTCGGAGCA	0.552000														142			17		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143793109	143793109	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143793109C>T	uc011kty.2	+	0	909	c.909C>T	c.(907-909)gtC>gtT	p.V303V		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TAAAGAGAGTCCTTTGGAAAC	0.438000														172			55		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65263330	65263330	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:65263330C>T	uc001xht.3	-	9	1337	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	SPTB_uc001xhr.3_Missense_Mutation_p.R429Q|SPTB_uc001xhs.3_Missense_Mutation_p.R429Q|SPTB_uc001xhu.3_Missense_Mutation_p.R429Q	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	429					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCGGCCTTCCGGTCAAAGCG	0.587000														56			21		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004741	52004741	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52004741G>A	uc002pwx.1	-	0	303	c.247C>T	c.(247-249)Cga>Tga	p.R83*	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	83	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding	p.A82V(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGCACTGCTCGAGCTGGGTTG	0.572000														128			47		0	0	1	0	0
NR1H4	9971	broad.mit.edu	37	12	100926317	100926317	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:100926317G>A	uc001tht.2	+	2	585	c.557G>A	c.(556-558)cGa>cAa	p.R186Q	NR1H4_uc001thq.2_Missense_Mutation_p.R176Q|NR1H4_uc001thp.2_Missense_Mutation_p.R176Q|NR1H4_uc001thr.2_Missense_Mutation_p.R176Q|NR1H4_uc010svk.2_Intron|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.R186Q	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	186					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						ATGTACATGCGAAGAAAGTGT	0.408000														75			28		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12725985	12725985	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12725985C>T	uc001auf.3	+	3	463	c.463C>T	c.(463-465)Cct>Tct	p.P155S		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	155						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CCGCAAGCTTCCTGACCACCA	0.522000														80			22		0	0	1	0	0
LCE2A	353139	broad.mit.edu	37	1	152671682	152671682	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152671682C>T	uc021oze.1	+	0	305	c.305C>T	c.(304-306)tCt>tTt	p.S102F	LCE2A_uc001faj.3_Missense_Mutation_p.S102F	NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	Homo sapiens late cornified envelope 2A (LCE2A), mRNA.	102	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCACAGCTCTGGGGACTGC	0.602000														106			18		0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405281	68405281	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:68405281C>T	uc002ewa.3	-	2	1226	c.804G>A	c.(802-804)agG>agA	p.R268R	SMPD3_uc010cfe.3_Silent_p.R268R|SMPD3_uc010vlh.2_Silent_p.R268R	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	268					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CAGCTCCGTTCCTGGCCTGGC	0.716000														22			14		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56204804	56204804	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:56204804G>A	uc002lhj.4	-	4	2829	c.2615C>T	c.(2614-2616)tCa>tTa	p.S872L	ALPK2_uc002lhk.1_Missense_Mutation_p.S203L	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	872							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CGTAGACACTGAAGTCTCAGA	0.423000														50			7		0	0	1	0	0
CHMP4C	92421	broad.mit.edu	37	8	82670728	82670728	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:82670728G>A	uc003ycl.3	+	4	825	c.651G>A	c.(649-651)agG>agA	p.R217R		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA.	217	Intramolecular interaction with N- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						CTTCCCAGAGGGCAGAAGAAG	0.313000														85			19		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61941113	61941113	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61941113C>T	uc001jky.3	-	17	2496	c.2158G>A	c.(2158-2160)Ggg>Agg	p.G720R	ANK3_uc010qih.2_Missense_Mutation_p.G703R|ANK3_uc001jkz.4_Missense_Mutation_p.G714R|ANK3_uc001jlb.1_Missense_Mutation_p.G249R|ANK3_uc001jlc.1_Missense_Mutation_p.G381R	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	720					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						ACATGAGCCCCTTGGTTTACG	0.498000														143			36		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150693611	150693611	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150693611C>T	uc003wif.3	+	3	686	c.390C>T	c.(388-390)ttC>ttT	p.F130F	NOS3_uc011kuy.2_Intron|NOS3_uc011kva.2_Silent_p.F130F|NOS3_uc011kuz.2_Silent_p.F130F|NOS3_uc011kvb.2_Silent_p.F130F	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	130	Interaction with NOSIP.				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)	CCCGGGACTTCATCAACCAGT	0.652000														23			13		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123887067	123887067	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123887067C>T	uc010sac.2	+	0	786	c.786C>T	c.(784-786)ggC>ggT	p.G262G		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGAGGCCAGGCTCCATGGATG	0.522000														60			15		0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048319	6048319	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6048319G>A	uc010qzw.2	-	0	653	c.616C>T	c.(616-618)Caa>Taa	p.Q206*		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCACAAATTGGTAGATTCTG	0.453000														99			31		0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220267642	220267642	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:220267642C>T	uc001hmc.3	+	0	188	c.84C>T	c.(82-84)ccC>ccT	p.P28P	RNU5F-1_uc021pjd.1_Intron	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	28					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CCCGCCTTCCCTGCAGCCCGG	0.711000														30			6		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110910	81110910	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81110910C>T	uc001szg.2	+	0	203	c.68C>T	c.(67-69)tCc>tTc	p.S23F		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	23					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TGCATACCGTCCCCCGAGGGT	0.617000														41			14		0	0	1	0	0
ZNF774	342132	broad.mit.edu	37	15	90897934	90897934	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90897934C>T	uc002bpk.4	+	1	228	c.42C>T	c.(40-42)caC>caT	p.H14H		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	Homo sapiens zinc finger protein 774 (ZNF774), mRNA.	14	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G13R(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TACCTGGACACTGCTTAGAGA	0.458000														26			8		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19349165	19349166	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19349165_19349166CC>TT	uc002nlz.3	+	10	3453_3454	c.3354_3355CC>TT	c.(3352-3357)cgccgc>cgTTgc	p.R1119C	NCAN_uc010ecc.1_Missense_Mutation_p.R683C|NCAN_uc002nma.3_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1119	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	p.R1119S(2)|p.R1133S(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ACTGCCGCCGCCGCTCCGGCCA	0.653000														86			27		0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88367436	88367436	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:88367436G>A	uc002ssr.3	+	0	138	c.53G>A	c.(52-54)gGa>gAa	p.G18E	SMYD1_uc002ssq.2_Missense_Mutation_p.G18E	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GAGGGCAAAGGAAGGGGTCTG	0.522000														147			68		0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	74009390	74009390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:74009390C>T	uc010rrj.2	-	3	627	c.584G>A	c.(583-585)gGg>gAg	p.G195E	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Missense_Mutation_p.G195E			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	195						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GTAATAATCCCCCATGTCATA	0.458000														115			46		0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61102816	61102816	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:61102816C>T	uc001vhz.4	+	10	1966	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L	TDRD3_uc010aef.2_Missense_Mutation_p.P218L|TDRD3_uc001via.3_Missense_Mutation_p.P393L|TDRD3_uc010aeg.3_Missense_Mutation_p.P486L|TDRD3_uc001vib.4_Missense_Mutation_p.P392L	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	393					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ACTTCATATCCTTTAGGTTCT	0.373000														91			23		0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882619	152882619	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152882619G>A	uc021ozl.1	+	0	346	c.346G>A	c.(346-348)Gat>Aat	p.D116N	IVL_uc001fau.3_Missense_Mutation_p.D116N	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	116					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACACAAAGGGATCAGCAGCT	0.473000														44			21		0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21370127	21370127	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21370127C>T	uc001req.4	+	11	1676	c.1572C>T	c.(1570-1572)tgC>tgT	p.C524C		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	524					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TGGGTGAATGCCCAAGAGATG	0.383000														53			24		0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123301371	123301371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:123301371G>A	uc003ieo.3	+	2	379	c.147G>A	c.(145-147)atG>atA	p.M49I	ADAD1_uc003iep.3_Missense_Mutation_p.M49I|ADAD1_uc003ieq.3_Missense_Mutation_p.M31I	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	49					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGTCCAAGATGGCATCCAAGG	0.453000														58			34		0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1119445	1119445	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1119445G>A	uc001acy.2	+	11	1385	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	TTLL10_uc010nyg.1_Missense_Mutation_p.D412N|TTLL10_uc001acz.2_Missense_Mutation_p.D339N	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	412	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCATTCCAGCGACCTCGGCGG	0.597000														208			58		0	0	1	0	0
TXNRD1	7296	broad.mit.edu	37	12	104705146	104705146	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:104705146C>T	uc021rcx.1	+	4	515	c.493C>T	c.(493-495)Ctt>Ttt	p.L165F	TXNRD1_uc021rcy.1_Missense_Mutation_p.L67F|TXNRD1_uc021rcz.1_Missense_Mutation_p.L15F|TXNRD1_uc021rda.1_Missense_Mutation_p.L15F|TXNRD1_uc021rdb.1_Missense_Mutation_p.L15F|TXNRD1_uc010swp.2_Intron|TXNRD1_uc010swq.2_Missense_Mutation_p.L65F|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Missense_Mutation_p.L81F|TXNRD1_uc001tkv.2_Non-coding_Transcript	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	165					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TGACTATGACCTTATCATCAT	0.443000														20			3		0	0	1	0	0
TMCO7	79613	broad.mit.edu	37	16	68893950	68893950	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:68893950C>T	uc002ewi.4	+	1	270	c.258C>T	c.(256-258)aaC>aaT	p.N86N	TMCO7_uc002ewh.3_Silent_p.N86N	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	86						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)		GGCCACAAAACTCTGTGGATG	0.433000														75			24		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106494237	106494237	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106494237C>T	uc021ser.1	-	2337		c.41415G>A								Parts of antibodies, mostly variable regions.																		TGAGCCTGCTCTTCAGAGATG	0.532000														96			15		0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205133001	205133001	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205133001G>A	uc001hbw.3	-	3	1471	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	DSTYK_uc001hbx.3_Silent_p.I469I|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	469						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TAAGTCGGGAGATGATGAGTT	0.507000														107			15		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645491	45645491	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:45645491C>T	uc003jok.3	-	1	670	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	215						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.M215L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTAAATAATTCATCTTGATCA	0.368000														59			16		0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124952521	124952521	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124952521G>A	uc003ehx.4	-	8	1535	c.1049C>T	c.(1048-1050)tCt>tTt	p.S350F	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.S350F|ZNF148_uc010hsa.3_Missense_Mutation_p.S350F|ZNF148_uc003eia.4_Missense_Mutation_p.S350F|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	350					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						AGTACTTGAAGAATAAAGAGG	0.388000														120			33		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508751	37508751	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:37508751G>A	uc021ppc.1	+	33	4042	c.3943G>A	c.(3943-3945)Gag>Aag	p.E1315K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E1315K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1371						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAGAAAAATGAGGAGATATT	0.269000														22			7		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666819	50666819	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:50666819C>T	uc001csb.2	+	6	1380	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	ELAVL4_uc001cry.3_Missense_Mutation_p.S360F|ELAVL4_uc001crz.3_Missense_Mutation_p.S357F|ELAVL4_uc001csa.3_Missense_Mutation_p.S374F|ELAVL4_uc001csc.3_Missense_Mutation_p.S357F|ELAVL4_uc010omz.2_Missense_Mutation_p.S362F	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	371	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TTGCAAGTTTCCTTTAAAACC	0.458000														62			20		0	0	1	0	0
AGPAT9	84803	broad.mit.edu	37	4	84519293	84519293	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:84519293C>T	uc003how.3	+	10	1304	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	AGPAT9_uc003hox.3_Silent_p.I362I|AGPAT9_uc003hoy.3_Silent_p.I362I	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	362					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				GCTGGGCCATCGTCTGTGACG	0.448000														76			31		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073120	17073120	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17073120G>A	uc002zlp.1	-	0	581	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	107					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.F107F(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCAGAACCACGAAGGCTGTGC	0.662000														64			20		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642485	57642485	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57642485G>A	uc002qny.3	+	3	2798	c.2442G>A	c.(2440-2442)gtG>gtA	p.V814V	USP29_uc021vci.1_Silent_p.V814V	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	814					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			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)		CAAGAAACGTGAAGATGGGGG	0.478000														29			16		0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37936686	37936686	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:37936686G>A	uc003tfn.3	+	16	2131	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	587	NDK 3.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GGATCCTGAGGAAAACTAAAG	0.353000														41			14		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280446	152280446	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152280446G>A	uc001ezu.1	-	2	6952	c.6916C>T	c.(6916-6918)Cat>Tat	p.H2306Y		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2306	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTCTGCATGATGAGTGCCT	0.562000									Ichthyosis					454			151		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238249231	238249231	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:238249231C>T	uc002vwl.2	-	37	8613	c.8328G>A	c.(8326-8328)agG>agA	p.R2776R	COL6A3_uc002vwo.2_Silent_p.R2570R|COL6A3_uc010znj.1_Silent_p.R2169R|COL6A3_uc002vwj.2_Silent_p.R157R	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2776	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGTTCACCTTCCTGCCAATGC	0.562000														77			34		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78347272	78347272	+	Missense_Mutation	SNP	G	A	A	rs35879437		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:78347272G>A	uc003kfs.3	-	4	589	c.583C>T	c.(583-585)Cct>Tct	p.P195S	DMGDH_uc011cte.1_Missense_Mutation_p.P45S|DMGDH_uc011ctf.1_Intron|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	195					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AGAGAATAAGGATCAATGTGA	0.388000														98			41		0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116288845	116288845	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:116288845G>A	uc003pwi.1	-	3	1115	c.668C>T	c.(667-669)aCc>aTc	p.T223I		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	223					negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.K222N(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TTGGTCCACGGTTTTATACGA	0.388000														57			36		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100361804	100361804	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100361804G>A	uc003uwj.3	+	21	4417	c.4252G>A	c.(4252-4254)Gaa>Aaa	p.E1418K	ZAN_uc003uwk.3_Missense_Mutation_p.E1418K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1418					binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCCCTGGAGGGAACCCCACTT	0.617000														14			4		0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683752	159683752	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159683752C>T	uc001ftw.3	-	1	342	c.238G>A	c.(238-240)Gag>Aag	p.E80K	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	80	Pentaxin.			Missing (in Ref. 13; AA sequence).|YSIFSYATKRQDNEIL -> TVFSRMPPRDKTMRFF (in Ref. 4; CAA39671).	acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	ATGAGAATCTCATTGTCTTGT	0.453000														102			7		0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99378490	99378490	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:99378490G>A	uc001vno.3	-	3	209	c.132C>T	c.(130-132)ttC>ttT	p.F44F	SLC15A1_uc001vnp.1_Silent_p.F12F	NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	44					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CCCAGCTGATGAAATTTGTGA	0.522000														61			20		0	0	1	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10419190	10419190	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10419190G>A	uc002mnw.4	-	0	1044	c.168C>T	c.(166-168)gcC>gcT	p.A56A	FDX1L_uc002mnx.1_Non-coding_Transcript	NM_001103167	NP_001096637	P0C6A0	ZGLP1_HUMAN	Homo sapiens zinc finger, GATA-like protein 1 (ZGLP1), mRNA.	56					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GGAAGCACAGGGCGGTGACCG	0.667000														11			6		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587557	55587558	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55587557_55587558CC>TT	uc010rin.2	+	0	452_453	c.452_453CC>TT	c.(451-453)gcc>gTT	p.A151V		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GGATCCTATGCCTGGGGAGTCT	0.480000														167			23		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56400068	56400068	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56400068G>A	uc002ivx.4	-	8	2135	c.1264C>T	c.(1264-1266)Cgc>Tgc	p.R422C	BZRAP1_uc010dcs.3_Missense_Mutation_p.R362C|BZRAP1_uc010wnt.2_Missense_Mutation_p.R422C|LOC100506779_uc021uan.1_5'Flank	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	422						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGCTCTTGCGAAGGGCTGAG	0.657000														48			21		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57597283	57597283	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57597283G>A	uc001snd.3	+	69	11396	c.10930G>A	c.(10930-10932)Gag>Aag	p.E3644K		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3644	LDL-receptor class A 28.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGCAGCGACGAGGAGGCCTG	0.677000														7			4		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120740003	120740003	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:120740003C>T	uc003vjq.4	+	6	1220	c.773C>T	c.(772-774)cCa>cTa	p.P258L	C7orf58_uc003vjr.1_Missense_Mutation_p.P258L|C7orf58_uc003vjs.4_Missense_Mutation_p.P258L|C7orf58_uc003vjt.4_Missense_Mutation_p.P38L|C7orf58_uc010lkk.2_Missense_Mutation_p.P38L	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	258						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					GTCCTTGCTCCACATGAAACA	0.383000														76			18		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2942488	2942488	+	Missense_Mutation	SNP	G	A	A	rs145270510	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:2942488G>A	uc003bpc.3	+	10	1399	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	CNTN4_uc003bpb.1_Missense_Mutation_p.E26K|CNTN4_uc021wsg.1_Missense_Mutation_p.E354K|CNTN4_uc003bpd.1_Missense_Mutation_p.E354K|CNTN4_uc003bpe.3_Missense_Mutation_p.E26K|CNTN4_uc003bpf.3_Missense_Mutation_p.E26K	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	354	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAAAAATGGCGAACCTCTGCT	0.398000														79			29		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101731860	101731860	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:101731860G>A	uc001kqj.2	-	1	114	c.22C>T	c.(22-24)Cga>Tga	p.R8*		NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	8	SH3 1.				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)		AAAATGGCTCGAACCACTGAG	0.403000														103			29		0	0	1	0	0
C8orf47	203111	broad.mit.edu	37	8	99101746	99101747	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:99101746_99101747GG>AA	uc003yih.1	+	1	649_650	c.501_502GG>AA	c.(499-504)aaggac>aaAAac	p.D168N	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	168										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CAGTAGAGAAGGACTCTCTCAG	0.520000														48			4		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4249749	4249749	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:4249749C>T	uc003smx.3	+	37	5633	c.5494C>T	c.(5494-5496)Ctg>Ttg	p.L1832L	SDK1_uc010kso.3_Silent_p.L1088L|SDK1_uc003smy.3_Silent_p.L319L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1832	Fibronectin type-III 12.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAACGGCATCCTGCAGGGCTA	0.667000														58			10		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43947855	43947855	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:43947855G>A	uc010yny.2	+	15	2591	c.2508G>A	c.(2506-2508)aaG>aaA	p.K836K	PLEKHH2_uc002rtf.3_Silent_p.K835K	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	836	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding	p.K836N(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAATAGGAAAGACATTATATT	0.323000														152			59		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057615	9057615	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9057615G>A	uc002mkp.3	-	2	30035	c.29831C>T	c.(29830-29832)tCc>tTc	p.S9944F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9946	Ser-rich.|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						CATGGATGAGGAAGAGAGCCT	0.453000														231			85		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73491369	73491370	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73491369_73491370CC>TT	uc010wsa.2	+	19	2955_2956	c.2763_2764CC>TT	c.(2761-2766)tcccga>tcTTga	p.R922*	KIAA0195_uc002jnz.4_Nonsense_Mutation_p.R912*|KIAA0195_uc010wsb.2_Nonsense_Mutation_p.R552*|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	912					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCACAGTGTCCCGAGATGATGC	0.589000														31			9		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58533821	58533821	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:58533821C>A	uc002ybe.3	+	0	351	c.40C>A	c.(40-42)Ctt>Att	p.L14I	CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	14					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			gctgctgctgcttctagtgct	0.597000														29			7		2.7689e-08	2.77692e-08	1	1	0
ZNF461	92283	broad.mit.edu	37	19	37130142	37130142	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:37130142G>A	uc002oem.3	-	5	1333	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	ZNF461_uc002oen.3_Missense_Mutation_p.R338C|ZNF461_uc010xtj.2_Missense_Mutation_p.R346C	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	Homo sapiens zinc finger protein 461 (ZNF461), mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGATGTGAGCGATGCCTAAAA	0.418000														62			25		0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132888043	132888043	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:132888043C>T	uc010nrn.2	-	2	695	c.498G>A	c.(496-498)atG>atA	p.M166I	GPC3_uc004exe.2_Missense_Mutation_p.M166I|GPC3_uc011mvh.2_Missense_Mutation_p.M150I|GPC3_uc010nro.2_Missense_Mutation_p.M112I|GPC3_uc010nrp.2_Missense_Mutation_p.M38I	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	166						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ATTCATTGACCATGTCATCTA	0.458000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					56			84		0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178442297	178442297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:178442297C>T	uc001glq.3	+	17	4530	c.3766C>T	c.(3766-3768)Cgc>Tgc	p.R1256C	RASAL2_uc001glr.3_Missense_Mutation_p.R1115C|RASAL2_uc009wxc.3_Missense_Mutation_p.P639L	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	1115					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CATGCAGGTCCGCAATGGCAT	0.542000														78			26		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58067416	58067416	+	Silent	SNP	C	T	T	rs80356507		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58067416C>T	uc003djj.2	+	3	865	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	FLNB_uc010hne.2_Silent_p.L234L|FLNB_uc003djk.2_Silent_p.L234L|FLNB_uc010hnf.2_Silent_p.L234L|FLNB_uc003djl.2_Silent_p.L65L|FLNB_uc003djm.2_Silent_p.L65L	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	234	Actin-binding.|CH 2.		L -> V (in LRS1).		actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TATGACTTACCTGTCCCAGTT	0.527000														136			12		0	0	1	0	0
SLC43A1	8501	broad.mit.edu	37	11	57268309	57268309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57268309G>A	uc001nkk.3	-	4	526	c.408C>T	c.(406-408)ttC>ttT	p.F136F	SLC43A1_uc001nkl.3_Silent_p.F136F	NM_001198810	NP_001185739	O75387	LAT3_HUMAN	Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA.	136					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACAGCGCCAGGAATATCAACG	0.587000														27			12		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81743738	81743739	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:81743738_81743739CC>TT	uc010tvu.2	-	3	2114_2115	c.1916_1917GG>AA	c.(1915-1917)tgg>tAA	p.W639*	STON2_uc001xvk.1_Nonsense_Mutation_p.W639*|STON2_uc010tvt.2_Nonsense_Mutation_p.W436*	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	639	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGAGCTTGATCCACTTTGTGGT	0.530000														43			16		0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15651288	15651288	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15651288C>T	uc002nbh.4	+	7	866	c.699C>T	c.(697-699)atC>atT	p.I233I		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	233						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.I233I(2)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TCTCCGCTATCATTGAACTGA	0.557000														75			28		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370026	56370026	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56370026G>A	uc002qmd.4	+	2	1689	c.1267G>A	c.(1267-1269)Ggg>Agg	p.G423R	NLRP4_uc002qmf.3_Missense_Mutation_p.G348R|NLRP4_uc010etf.3_Missense_Mutation_p.G254R	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	423	NACHT.						ATP binding	p.G423W(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCGGAGAAATGGGGTTGTTGA	0.562000														99			53		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4281431	4281431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:4281431G>A	uc003smx.3	+	42	6276	c.6137G>A	c.(6136-6138)gGg>gAg	p.G2046E	SDK1_uc010kso.3_Missense_Mutation_p.G1302E|SDK1_uc003smy.3_Missense_Mutation_p.G533E|SDK1_uc003smz.3_Missense_Mutation_p.G106E	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	2046					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTAGGAAAGGGGATCTCCACC	0.607000														30			8		0	0	1	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478552	141478552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141478552C>T	uc003vwq.1	+	0	264	c.264C>T	c.(262-264)ttC>ttT	p.F88F		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	Homo sapiens taste receptor, type 2, member 4 (TAS2R4), mRNA.	88					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TGTTGTGTTTCATGTTTTTGG	0.418000														144			44		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33840377	33840377	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:33840377C>T	uc001zhi.3	+	8	857	c.787C>T	c.(787-789)Ctt>Ttt	p.L263F	RYR3_uc010bar.3_Missense_Mutation_p.L263F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	263	MIR 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCCAGGTCTCTTTGGAGAGT	0.493000														16			10		0	0	1	0	0
BLVRB	645	broad.mit.edu	37	19	40953902	40953902	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40953902G>A	uc002onw.2	-	4	645	c.515C>T	c.(514-516)cCc>cTc	p.P172L		NM_000713	NP_000704	P30043	BLVRB_HUMAN	Homo sapiens biliverdin reductase B (flavin reductase (NADPH)) (BLVRB), mRNA.	172					heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		NADH(DB00157)|Riboflavin(DB00140)	GACCCTTGAGGGCCCTCGTCC	0.562000														50			15		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16875962	16875962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16875962C>T	uc002neu.4	+	9	2791	c.2369C>T	c.(2368-2370)gCc>gTc	p.A790V	NWD1_uc002net.4_Missense_Mutation_p.A655V|NWD1_uc002nev.4_Missense_Mutation_p.A584V|NWD1_uc021uqg.1_Missense_Mutation_p.A655V	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	790							ATP binding	p.A790T(1)		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						GTCCGTGAAGCCCTCCAGCTC	0.617000														30			16		0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203798606	203798606	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203798606C>T	uc001hac.3	+	7	942	c.326C>T	c.(325-327)cCa>cTa	p.P109L	ZC3H11A_uc001had.3_Missense_Mutation_p.P109L|ZC3H11A_uc001hae.3_Missense_Mutation_p.P109L|ZC3H11A_uc001haf.3_Missense_Mutation_p.P109L|ZC3H11A_uc010pqm.2_Missense_Mutation_p.P55L|ZC3H11A_uc001hag.1_Missense_Mutation_p.P109L	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	109							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTGAGTCACCAGAAGAGGAA	0.448000														80			31		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13870918	13870918	+	Silent	SNP	C	T	T	rs141079124		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13870918C>T	uc003jfd.2	-	23	3834	c.3792G>A	c.(3790-3792)agG>agA	p.R1264R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1264	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I1263V(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTGCTCCTCCCTTATTTCTT	0.338000									Kartagener syndrome					59			15		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050067	42050067	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:42050067C>T	uc001cgz.4	-	3	1615	c.402G>A	c.(400-402)gtG>gtA	p.V134V	HIVEP3_uc001cha.4_Silent_p.V134V|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	134				FV -> LL (in Ref. 1; AAK01082).	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCCCAGGGGCCACGAAGGAGC	0.612000														107			52		0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16532066	16532066	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16532066G>A	uc001ayc.1	-	8	1685	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	ARHGEF19_uc009voo.1_5'UTR	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	516	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TGATCCTCTGGAAGGGCAGGA	0.647000														28			13		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50223468	50223468	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:50223468C>T	uc001zxu.3	-	15	1632	c.1490G>A	c.(1489-1491)gGg>gAg	p.G497E	ATP8B4_uc010ber.3_Missense_Mutation_p.G370E|ATP8B4_uc010ufd.2_Intron|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	497					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			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CACTAGAGCCCCTTCATCAGG	0.393000														49			11		0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144062345	144062345	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:144062345G>A	uc003wel.3	+	1	2701	c.2583G>A	c.(2581-2583)agG>agA	p.R861R	ARHGEF5_uc003wek.3_Silent_p.R861R|ARHGEF5_uc003wem.3_5'Flank	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	861					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCAGGGGGAGGAGCAGGAGCA	0.597000														134			15		0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55070823	55070823	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55070823C>T	uc001cxm.2	+	12	1487	c.1311C>T	c.(1309-1311)gcC>gcT	p.A437A	ACOT11_uc001cxj.2_Silent_p.A315A|ACOT11_uc001cxl.2_Silent_p.A437A	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	437	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TGGATGCAGCCCAGGCCTTCC	0.617000														63			19		0	0	1	0	0
C11orf42	160298	broad.mit.edu	37	11	6231278	6231278	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6231278G>A	uc001mcj.3	+	1	319	c.271G>A	c.(271-273)Ggt>Agt	p.G91S		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	Homo sapiens chromosome 11 open reading frame 42 (C11orf42), mRNA.	91										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATCTGAGGGTGCCTTCGC	0.622000														45			19		0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47812438	47812438	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:47812438G>A	uc002leq.4	-	3	1146	c.413C>T	c.(412-414)tCg>tTg	p.S138L	CXXC1_uc002lep.4_5'UTR|CXXC1_uc002ler.4_Missense_Mutation_p.S138L|CXXC1_uc010doy.3_Missense_Mutation_p.S138L	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	138					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TTTGTGGGGCGAAGCAGAGCC	0.632000														71			27		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459983	107459983	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:107459983G>A	uc002tdq.3	-	1	570	c.451C>T	c.(451-453)Cct>Tct	p.P151S	ST6GAL2_uc002tdr.3_Missense_Mutation_p.P151S|ST6GAL2_uc002tds.3_Missense_Mutation_p.P151S	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	151					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.F150L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCGGGGGAAGGGAATCCCAAT	0.607000														174			65		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82421702	82421702	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:82421702C>T	uc001dit.4	+	9	2105	c.1924C>T	c.(1924-1926)Ctt>Ttt	p.L642F	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.L642F|LPHN2_uc001div.3_Missense_Mutation_p.L642F|LPHN2_uc009wcd.3_Missense_Mutation_p.L642F|LPHN2_uc001diw.3_Missense_Mutation_p.L226F	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	655					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGCTGACAATCTTTTAGAACC	0.348000														68			12		0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30605092	30605092	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:30605092G>A	uc001iva.4	-	6	1330	c.1267C>T	c.(1267-1269)Cgt>Tgt	p.R423C	MTPAP_uc001ivb.4_Missense_Mutation_p.R553C	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.	423					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTCAAGTCACGAACAAATGTG	0.343000														39			12		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189864086	189864087	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189864086_189864087CC>TT	uc002uqj.1	+	29	2215_2216	c.2098_2099CC>TT	c.(2098-2100)ccc>TTc	p.P700F		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	700	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGAGCTGGTCCCCCTGGTCCC	0.475000														16			4		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73464772	73464772	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73464772G>A	uc001jrx.4	+	23	3222	c.2832G>A	c.(2830-2832)gtG>gtA	p.V944V	CDH23_uc001jry.3_Silent_p.V944V|CDH23_uc001jrz.3_Silent_p.V944V	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	946	Cadherin 9.		S -> G.		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						GCAGCGGCGTGGTGGTCACCA	0.667000														85			39		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	95679	95679	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000209.1:95679G>A	uc002quk.1	+	7	1120	c.1065G>A	c.(1063-1065)agG>agA	p.R355R	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_5'Flank	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	355							receptor activity										GATCTTCTAGGGAGACAACAG	0.507000														106			42		0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42195138	42195138	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42195138G>A	uc002xkv.3	+	0	402	c.183G>A	c.(181-183)atG>atA	p.M61I	SGK2_uc002xkr.3_Missense_Mutation_p.M1I|SGK2_uc010ggm.3_Missense_Mutation_p.M1I|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Missense_Mutation_p.M1I|SGK2_uc002xkq.1_Missense_Mutation_p.M1I	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	61					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCTACAGAATGAACTCTAGCC	0.597000														82			23		0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179526210	179526210	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:179526210C>T	uc003fki.1	-	12	1498	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	PEX5L_uc011bqd.1_Silent_p.G413G|PEX5L_uc011bqe.1_Silent_p.G264G|PEX5L_uc011bqf.1_Silent_p.G348G|PEX5L_uc003fkj.1_Silent_p.G421G|PEX5L_uc010hxd.1_Silent_p.G454G|PEX5L_uc011bqg.1_Silent_p.G432G|PEX5L_uc011bqh.1_Silent_p.G397G	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	456					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ATTCCTTCACCCCTTCCAGAA	0.398000														81			33		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513605	99513605	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:99513605G>A	uc003dti.1	+	2	991	c.863G>A	c.(862-864)gGa>gAa	p.G288E	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G287E|COL8A1_uc003dth.1_Missense_Mutation_p.G287E	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	287	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGCCCCCTGGGAAAGCCAGGG	0.667000														32			9		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579405	33579405	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:33579405G>A	uc001rll.1	-	1	474	c.177C>T	c.(175-177)gtC>gtT	p.V59V	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	59						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AGCTGACAACGACAGCTAACA	0.363000														17			16		0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148577674	148577674	+	Missense_Mutation	SNP	G	A	A	rs144356818		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:148577674G>A	uc003ewl.3	+	10	1162	c.1139G>A	c.(1138-1140)cGa>cAa	p.R380Q		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	380					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTTGAACTTCGAGATACAGGC	0.498000														88			28		0	0	1	0	0
UCP3	7352	broad.mit.edu	37	11	73715533	73715533	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:73715533G>A	uc001our.3	-	4	994	c.639C>T	c.(637-639)ctC>ctT	p.L213L	UCP3_uc001ous.2_Silent_p.L213L	NM_003356	NP_003347	P55916	UCP3_HUMAN	Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), nuclear gene encoding mitochondrial protein, transcript variant long, mRNA.	213					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					CCTCACCAGTGAGCAGGTGGT	0.582000														56			16		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307510	140307510	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140307510C>T	uc003lih.2	+	0	1209	c.1033C>T	c.(1033-1035)Ctt>Ttt	p.L345F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.L345F	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	370	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTGACTCTTTCGAACCC	0.527000														115			48		0	0	1	0	0
VTCN1	79679	broad.mit.edu	37	1	117712753	117712753	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:117712753G>A	uc001ehb.3	-	1	178	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	VTCN1_uc021osn.1_5'UTR|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_5'UTR|VTCN1_uc009whf.2_Missense_Mutation_p.L25F	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	25						integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		CCAATGATGAGTGCAATTGCT	0.398000														115			50		0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3788206	3788206	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:3788206G>A	uc010sen.1	-	5	971	c.399C>T	c.(397-399)gcC>gcT	p.A133A	EFCAB4B_uc001qmj.2_Silent_p.A133A	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	133					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CATGGCGCTGGGCCACCTGTT	0.557000														95			15		0	0	1	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28333369	28333369	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28333369C>T	uc010jrc.3	+	6	1257	c.924C>T	c.(922-924)gcC>gcT	p.A308A	ZKSCAN3_uc003nle.4_Silent_p.A308A|ZKSCAN3_uc003nlf.4_Silent_p.A160A	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.	308					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AGAAAAATGCCACAGGAGGGA	0.502000														53			20		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10250079	10250079	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10250079G>A	uc002gmk.1	-	12	1271	c.1181C>T	c.(1180-1182)tCt>tTt	p.S394F	MYH13_uc010vvf.1_Missense_Mutation_p.S69F	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	394	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CATTTCTGCAGAATTCAGTCC	0.473000														21			16		0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115760054	115760054	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:115760054G>A	uc011lwy.2	-	4	1725	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TGCTGCGGCTGAAGGTTTTTC	0.403000														71			8		0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36563655	36563655	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:36563655C>T	uc001bzv.2	-	1	1634	c.1627G>A	c.(1627-1629)Ggc>Agc	p.G543S	COL8A2_uc001bzw.2_Missense_Mutation_p.G478S	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	543	Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGTGCAAGCCTGCGATGCCA	0.726000														20			8		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129901135	129901135	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:129901135G>A	uc001lke.3	-	12	9164	c.8969C>T	c.(8968-8970)tCc>tTc	p.S2990F	MKI67_uc001lkf.3_Missense_Mutation_p.S2630F|MKI67_uc009yav.1_Missense_Mutation_p.S2565F|MKI67_uc009yaw.1_Missense_Mutation_p.S2140F	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2990					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)				TGGGGGCAGGGAAGTGTTGCT	0.537000														85			40		0	0	1	0	0
CTSL2	1515	broad.mit.edu	37	9	99798833	99798833	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:99798833G>A	uc010msi.3	-	4	800	c.593C>T	c.(592-594)tCt>tTt	p.S198F	CTSL2_uc004awt.3_Missense_Mutation_p.S198F|CTSL2_uc004awu.3_Missense_Mutation_p.S143F|CTSL2_uc010msj.2_Missense_Mutation_p.S143F|CTSL2_uc010msk.3_Missense_Mutation_p.S143F	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	198						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				GGATTCCTCAGAGTCCAGGCC	0.488000														32			13		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15326904	15326904	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:15326904G>A	uc002rcc.1	-	49	6699	c.6673C>T	c.(6673-6675)Cgc>Tgc	p.R2225C	NBAS_uc002rcb.1_Missense_Mutation_p.R65C|NBAS_uc010exl.1_Missense_Mutation_p.R1297C|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	2225										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TACAAAGAGCGACACATTTTC	0.428000														112			39		0	0	1	0	0
NIPA1	123606	broad.mit.edu	37	15	23049282	23049282	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:23049282G>A	uc001yvc.3	-	4	562	c.537C>T	c.(535-537)atC>atT	p.I179I	NIPA1_uc001yvd.3_Silent_p.I9I|NIPA1_uc001yve.3_Silent_p.I104I	NM_144599	NP_001135747	Q7RTP0	NIPA1_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA.	179					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		GGGCCGGCGCGATCCAGAAGA	0.607000														23			5		0	0	1	0	0
TFCP2	7024	broad.mit.edu	37	12	51504689	51504689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51504689G>A	uc001rxw.3	-	4	1256	c.535C>T	c.(535-537)Cct>Tct	p.P179S	TFCP2_uc001rxv.2_Missense_Mutation_p.P179S|TFCP2_uc009zlx.2_Missense_Mutation_p.P179S|TFCP2_uc009zly.1_Missense_Mutation_p.P81S	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.	179	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						CTCTTTGCAGGGTCCCACAGG	0.403000														138			41		0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370539	35370539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:35370539C>T	uc001byc.3	-	0	446	c.446G>A	c.(445-447)gGg>gAg	p.G149E		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	149					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TGGCCCGGGCCCTGCCCCTGC	0.627000														25			12		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555713	155555713	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:155555713C>T	uc002tyv.1	+	0	621	c.426C>T	c.(424-426)gcC>gcT	p.A142A	KCNJ3_uc010zce.1_Silent_p.A142A|KCNJ3_uc021vrh.1_Silent_p.A142A	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	142					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.A142A(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGACGGAGGCCACCATCGGCT	0.572000														52			20		0	0	1	0	0
SS18	6760	broad.mit.edu	37	18	23612462	23612462	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:23612462A>G	uc002kvm.3	-	9	1209	c.1131T>C	c.(1129-1131)ccT>ccC	p.P377P	SS18_uc002kvn.3_Silent_p.P346P|SS18_uc010xbf.2_Silent_p.P295P|SS18_uc010xbg.2_Silent_p.P294P|SS18_uc010xbh.2_Silent_p.P294P|SS18_uc010xbi.2_Silent_p.P354P	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA.	377	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTGGGTAGTTAGGATACTGAG	0.498000			T	"""SSX1,  SSX2"""	synovial sarcoma									105			24		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9119182	9119182	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:9119182C>T	uc003jek.2	-	14	2565	c.1853G>A	c.(1852-1854)cGg>cAg	p.R618Q		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	618	TSP type-1 2.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGAGCGCTGCCGCACCTGGAA	0.652000														25			8		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10433021	10433021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10433021C>T	uc010coi.3	-	23	3105	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E993K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	993					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCAATGGTTTCATCCAGACCT	0.502000														107			87		0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93125795	93125795	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:93125795C>T	uc001yap.3	+	6	2468	c.2316C>T	c.(2314-2316)tcC>tcT	p.S772S	RIN3_uc010auk.3_Silent_p.S434S|RIN3_uc001yaq.3_Silent_p.S697S|RIN3_uc001yar.1_Silent_p.S434S|RIN3_uc001yas.1_Silent_p.S434S	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	772	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TCTACGACTCCATGGCCCTCG	0.572000														95			28		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8689378	8689378	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:8689378C>T	uc002wnb.3	+	11	1232	c.1229C>T	c.(1228-1230)tCg>tTg	p.S410L	PLCB1_uc010zrb.1_Missense_Mutation_p.S309L|PLCB1_uc002wna.3_Missense_Mutation_p.S410L|PLCB1_uc002wnc.1_Missense_Mutation_p.S309L	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	410	PI-PLC X-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						ATTCTCCTTTCGTTTGAGAAC	0.358000														36			21		0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834932	61834932	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61834932G>A	uc002yeh.3	-	3	654	c.360C>T	c.(358-360)ttC>ttT	p.F120F	YTHDF1_uc011aaq.2_Silent_p.F70F	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	120										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GGAAAAAATTGAACCTGTGCT	0.542000														64			23		0	0	1	0	0
SPAG8	26206	broad.mit.edu	37	9	35811403	35811403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35811403G>A	uc003zye.3	-	1	755	c.640C>T	c.(640-642)Cct>Tct	p.P214S	SPAG8_uc003zyg.3_Missense_Mutation_p.P214S	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	Homo sapiens sperm associated antigen 8 (SPAG8), transcript variant 2, mRNA.	214						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			AACCCTGGAGGAATACAGGGG	0.597000														118			25		0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85327800	85327800	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:85327800C>T	uc002bld.3	+	3	2230	c.1894C>T	c.(1894-1896)Ctg>Ttg	p.L632L	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	632					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAAGTGCAGCCTGCTCCGGCA	0.592000														78			33		0	0	1	0	0
RCN1	5954	broad.mit.edu	37	11	32125929	32125929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:32125929G>A	uc010reb.2	+	5	1173	c.907G>A	c.(907-909)Gag>Aag	p.E303K	RCN1_uc021qfp.1_Missense_Mutation_p.E137K|RCN1_uc001mtk.3_Missense_Mutation_p.E137K	NM_002901	NP_002892	Q15293	RCN1_HUMAN	Homo sapiens reticulocalbin 1, EF-hand calcium binding domain (RCN1), mRNA.	303	EF-hand 6.					endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					GCTAACTAAAGAGGAAATATT	0.398000														19			10		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38591833	38591833	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38591833C>T	uc021wvo.1	-	26	6082	c.6030G>A	c.(6028-6030)agG>agA	p.R2010R	SCN5A_uc021wvk.1_Silent_p.R1977R|SCN5A_uc021wvl.1_Silent_p.R1956R|SCN5A_uc021wvm.1_Silent_p.R1992R|SCN5A_uc021wvn.1_Silent_p.R2009R|SCN5A_uc021wvp.1_Silent_p.R2010R|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.R1822R|SCN5A_uc021wvi.1_Silent_p.R1876R	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	2010					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ACTCACGGTCCCTGTCCGGAG	0.567000														88			39		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059542	11059542	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:11059542C>T	uc010hdq.3	+	3	663	c.252C>T	c.(250-252)atC>atT	p.I84I		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	84					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCTTCCTGATCCCCTATTTCC	0.602000														77			19		0	0	1	0	0
FBXL12	54850	broad.mit.edu	37	19	9922101	9922101	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9922101G>A	uc002mme.3	-	2	694	c.452C>T	c.(451-453)cCc>cTc	p.P151L	FBXL12_uc002mmd.3_Missense_Mutation_p.P98L|FBXL12_uc002mmf.3_Missense_Mutation_p.P98L|FBXL12_uc002mmg.3_Missense_Mutation_p.P98L	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	151							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						TTCAAGCAGGGGCAGCACGGT	0.677000														66			24		0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34061368	34061368	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34061368C>T	uc021wco.1	+	12	2026	c.1379C>T	c.(1378-1380)tCt>tTt	p.S460F	CEP250_uc010zve.2_5'UTR|CEP250_uc010zvd.2_Non-coding_Transcript	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	460					G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAGGTGGACTCTCTCAGCAAG	0.597000														17			5		0	0	1	0	0
EED	8726	broad.mit.edu	37	11	85967484	85967484	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:85967484C>T	uc001pbp.3	+	4	948	c.482C>T	c.(481-483)cCt>cTt	p.P161L	EED_uc010rtm.2_Missense_Mutation_p.P161L|EED_uc001pbq.3_Missense_Mutation_p.P161L|EED_uc001pbr.3_Missense_Mutation_p.P161L|EED_uc010rtn.1_5'Flank	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	161	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				ACGAGCCATCCTCTGCTGGCT	0.358000														74			10		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2622075	2622075	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2622075G>T	uc009zdu.1	+	8	1628	c.1315G>T	c.(1315-1317)Gat>Tat	p.D439Y	CACNA1C_uc001qkc.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qjz.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkd.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qke.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkf.2_Missense_Mutation_p.D439Y|CACNA1C_uc009zdw.1_Missense_Mutation_p.D439Y|CACNA1C_uc001qkg.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkh.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkl.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkj.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkk.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkn.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkm.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qko.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkp.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkq.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qku.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkr.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qks.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkt.2_Missense_Mutation_p.D439Y|CACNA1C_uc009zdv.1_Missense_Mutation_p.D436Y|CACNA1C_uc001qkb.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Missense_Mutation_p.D175Y|CACNA1C_uc009zdy.1_Missense_Mutation_p.D64Y|CACNA1C_uc001qkv.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	439	Binding to the beta subunit (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGGCTACCTGGATTGGATCAC	0.537000														14			6		0.00116845	0.00116952	1	1	0
DUSP12	11266	broad.mit.edu	37	1	161722918	161722918	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161722918C>T	uc001gbo.3	+	4	739	c.728C>T	c.(727-729)cCt>cTt	p.P243L		NM_007240	NP_009171	Q9UNI6	DUS12_HUMAN	Homo sapiens dual specificity phosphatase 12 (DUSP12), mRNA.	243					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGAAGTGGACCTATAGCCTTT	0.433000														136			56		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124095622	124095622	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124095622C>T	uc010saf.2	+	0	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	75						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TGTACTATTTCCTCAGTGGTC	0.463000														155			65		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43944846	43944846	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:43944846C>T	uc010skx.2	-	1	319	c.319G>A	c.(319-321)Gtg>Atg	p.V107M		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	107						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)		CCCAAGTGCACCTCGGTGTAG	0.662000														35			7		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159650951	159650951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:159650951G>A	uc010kjv.3	+	9	1485	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	FNDC1_uc010kjw.1_Intron	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	429	Fibronectin type-III 4.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCAGCCTGGGGAACGCTATCT	0.517000														137			108		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234878920	234878920	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234878920C>T	uc002vvh.3	+	16	2245	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F	TRPM8_uc010fyj.3_Intron	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	735						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCTCCCCCTTCGTGGTCTTCT	0.547000														232			111		0	0	1	0	0
ZNF92	168374	broad.mit.edu	37	7	64864215	64864215	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:64864215C>T	uc003ttz.3	+	3	1331	c.1188C>T	c.(1186-1188)ccC>ccT	p.P396P	ZNF92_uc003tua.3_Silent_p.P327P|ZNF92_uc010kzu.3_Silent_p.P364P|ZNF92_uc003tub.3_Silent_p.P320P|ZNF92_uc022afd.1_5'Flank	NM_152626	NP_009070	Q03936	ZNF92_HUMAN	Homo sapiens zinc finger protein 92 (ZNF92), transcript variant 2, mRNA.	396						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				GAGAAAAACCCTACAAATGTG	0.368000														78			33		0	0	1	0	0
KLK1	3816	broad.mit.edu	37	19	51322476	51322476	+	Missense_Mutation	SNP	C	T	T	rs138173062		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51322476C>T	uc002ptk.1	-	4	802	c.763G>A	c.(763-765)Gag>Aag	p.E255K	KLK1_uc010ycg.1_Non-coding_Transcript	NM_002257	NP_002248	P06870	KLK1_HUMAN	Homo sapiens kallikrein 1 (KLK1), mRNA.	255	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGGTGTCCTCGATCCACTTC	0.542000														96			15		0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538680	152538680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152538680G>A	uc021oyz.1	-	0	5	c.5C>T	c.(4-6)tCc>tTc	p.S2F	LCE3E_uc001faa.3_Missense_Mutation_p.S2F	NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	Homo sapiens late cornified envelope 3E (LCE3E), mRNA.	2					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CTGCTGGCAGGACATCTTGGC	0.542000														55			23		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5282933	5282933	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:5282933G>A	uc010zqw.2	-	1	916	c.908C>T	c.(907-909)aCt>aTt	p.T303I	PROKR2_uc010zqx.2_Missense_Mutation_p.T303I|PROKR2_uc010zqy.2_Missense_Mutation_p.T303I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	303						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CACGAACACAGTGGGGAAGAA	0.552000										HNSCC(71;0.22)				65			44		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53694250	53694250	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:53694250C>T	uc003dgv.4	+	4	877	c.714C>T	c.(712-714)gcC>gcT	p.A238A	CACNA1D_uc003dgu.4_Silent_p.A238A|CACNA1D_uc003dgy.4_Silent_p.A238A	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	238					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATGTCAAAGCCCTCCGTGCCT	0.453000														75			25		0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109723224	109723224	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:109723224G>A	uc001toe.4	-	7	891	c.786C>T	c.(784-786)tcC>tcT	p.S262S	FOXN4_uc009zvg.3_Silent_p.S59S|FOXN4_uc001tof.4_Silent_p.S82S	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	262					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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			large_intestine(5)|lung(9)|ovary(2)	16						AGCCCTTGCGGGAGGAGCCGC	0.602000														53			19		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767500	105767500	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:105767500C>T	uc004bbs.2	+	4	657	c.587C>T	c.(586-588)tCa>tTa	p.S196L		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	196	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				aaaaaggaTTCAAACAAAGGC	0.373000														30			6		0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74044000	74044000	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74044000G>A	uc002jqk.1	-	9	1164	c.1129C>T	c.(1129-1131)Caa>Taa	p.Q377*	SRP68_uc010wsu.1_Nonsense_Mutation_p.Q276*|SRP68_uc002jql.1_Nonsense_Mutation_p.Q339*|SRP68_uc002jqj.1_Nonsense_Mutation_p.Q38*	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	Homo sapiens signal recognition particle 68kDa (SRP68), mRNA.	377					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TGCAAGTATTGAAGATTAGAC	0.284000														111			35		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21631030	21631030	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:21631030G>A	uc003svc.3	+	13	2533	c.2502G>A	c.(2500-2502)gtG>gtA	p.V834V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	834	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAAAAACGTGAAGGTGATCC	0.607000									Kartagener syndrome					56			21		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234878915	234878916	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234878915_234878916CC>TT	uc002vvh.3	+	16	2240_2241	c.2200_2201CC>TT	c.(2200-2202)ccc>TTc	p.P734F	TRPM8_uc010fyj.3_Intron	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	734						integral to membrane		p.S733S(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTTCACCTCCCCCTTCGTGGTC	0.540000														250			91		0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32221810	32221810	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32221810G>A	uc001btn.3	-	3	982	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C	BAI2_uc010ogp.2_Missense_Mutation_p.R198C|BAI2_uc010ogq.2_Missense_Mutation_p.R210C|BAI2_uc001bto.3_Missense_Mutation_p.R210C|BAI2_uc001btq.1_Missense_Mutation_p.R198C|BAI2_uc010ogr.1_Missense_Mutation_p.R198C	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	210					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CCGGCAGCGCGGCCACACTCC	0.647000														51			7		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21216896	21216896	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21216896C>T	uc003zor.1	-	0	415	c.409G>A	c.(409-411)Gag>Aag	p.E137K	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	137					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATGGAGTCCTCATTCATCAGG	0.468000														294			31		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38538831	38538831	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:38538831G>A	uc002yvz.3	+	32	4420	c.4315G>A	c.(4315-4317)Gga>Aga	p.G1439R	TTC3_uc011aee.1_Missense_Mutation_p.G1129R|TTC3_uc002ywa.3_Missense_Mutation_p.G1439R|TTC3_uc002ywb.3_Missense_Mutation_p.G1439R|TTC3_uc010gnf.3_Missense_Mutation_p.G1204R|TTC3_uc002ywc.3_Missense_Mutation_p.G1129R|TTC3_uc002ywd.1_Missense_Mutation_p.G503R	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1439					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TGAGCACTGTGGAAATTCTAA	0.423000														68			22		0	0	1	0	0
FADS2	9415	broad.mit.edu	37	11	61596039	61596039	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:61596039C>T	uc001nsl.1	+	0	327	c.177C>T	c.(175-177)gtC>gtT	p.V59V	FADS2_uc001nsj.2_Intron|FADS2_uc010rlo.1_Intron|FADS2_uc001nsk.3_Silent_p.V59V	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	59	Cytochrome b5 heme-binding.				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	GCCAGCGGGTCATCGGGCACT	0.622000											OREG0021015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			12		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55196641	55196641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55196641G>A	uc003pcm.1	+	1	237	c.151G>A	c.(151-153)Gat>Aat	p.D51N		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	51						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGCCTGCAATGATTCAGGTAA	0.318000														31			11		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30998884	30998884	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:30998884C>T	uc021vfn.1	-	2	331	c.299G>A	c.(298-300)gGa>gAa	p.G100E	CAPN13_uc021vfm.1_Missense_Mutation_p.G100E|CAPN13_uc002rnp.1_Missense_Mutation_p.G100E	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	100	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.L99L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGTCAAGGATCCCAGTGCTGC	0.527000														33			17		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6948179	6948179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6948179C>T	uc001qra.1	+	14	1952	c.1918C>T	c.(1918-1920)Cgc>Tgc	p.R640C	GPR162_uc001qrb.1_Missense_Mutation_p.R448C|GNB3_uc001qrc.3_5'Flank|GNB3_uc001qrd.3_5'Flank|GNB3_uc009zfe.3_5'Flank	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						GGTGCGTCCTCGCTGTGGGCG	0.657000														26			10		0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105215200	105215200	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105215200C>T	uc001kxe.2	-	1	1000	c.860G>A	c.(859-861)aGg>aAg	p.R287K	CALHM2_uc001kxd.1_5'Flank	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	Homo sapiens calcium homeostasis modulator 1 (CALHM1), mRNA.	287						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CAGCTTCTCCCTTTCCTCCTC	0.647000														27			15		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117043518	117043518	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:117043518G>A	uc011mtp.2	-	5	1254	c.1121C>T	c.(1120-1122)tCg>tTg	p.S374L	KLHL13_uc004eqk.3_Missense_Mutation_p.S320L|KLHL13_uc004eql.3_Missense_Mutation_p.S371L|KLHL13_uc011mtn.2_Missense_Mutation_p.S211L|KLHL13_uc011mto.2_Missense_Mutation_p.S365L|KLHL13_uc011mtq.2_Missense_Mutation_p.S355L|KLHL13_uc004eqm.3_Missense_Mutation_p.S329L|KLHL13_uc022cde.1_Missense_Mutation_p.S355L	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	371					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.S371L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGGGGCTAACGATTTCCACTC	0.488000														30			41		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121767694	121767694	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:121767694G>A	uc003ksw.1	+	5	1419	c.1213G>A	c.(1213-1215)Gtg>Atg	p.V405M	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Missense_Mutation_p.V405M|SNCAIP_uc003ksy.1_Missense_Mutation_p.V39M|SNCAIP_uc003ksx.1_Missense_Mutation_p.V452M|SNCAIP_uc003ksz.1_Missense_Mutation_p.V39M|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Missense_Mutation_p.V39M|SNCAIP_uc003kta.1_Missense_Mutation_p.V37M|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.V99M|SNCAIP_uc010jcx.1_Missense_Mutation_p.V345M	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	405					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ACGCTGGATGGTGAGCGAAAC	0.403000														41			8		0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	34000534	34000534	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:34000534G>A	uc003and.4	-	5	1081	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	LARGE_uc003ane.4_Silent_p.L168L|LARGE_uc010gwp.3_Silent_p.L168L|LARGE_uc011ame.2_Silent_p.L100L|LARGE_uc011amf.2_Silent_p.L168L	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	168					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TGGAAGTGCAGAGGGTTCCGT	0.547000														62			18		0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52361784	52361784	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:52361784C>T	uc003joy.3	+	14	2063	c.1920C>T	c.(1918-1920)gcC>gcT	p.A640A	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Silent_p.A564A|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	640					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CTATTGGTGCCTTTGGACAAG	0.458000														98			38		0	0	1	0	0
AK123141	0	broad.mit.edu	37	7	63816432	63816432	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:63816432G>A	uc003tsz.3	+	0		c.3064G>A								Homo sapiens cDNA FLJ41146 fis, clone BRACE2036900.																		TTTGGACTATGAATTGGGTGA	0.333000														16			4		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24390596	24390596	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24390596C>T	uc001bin.4	-	29	3751	c.3588G>A	c.(3586-3588)ggG>ggA	p.G1196G	MYOM3_uc001bil.4_Silent_p.G89G|MYOM3_uc001bim.4_Silent_p.G853G	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1196	Ig-like C2-type 3.							p.R1195Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGTCGTCCTCCCCTCGATCGT	0.552000														99			34		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183412	197183412	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:197183412C>T	uc002utm.1	-	8	2385	c.2202G>A	c.(2200-2202)ggG>ggA	p.G734G	HECW2_uc002utl.1_Silent_p.G378G	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	734					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCCAGACCTCCCCCAGCTCCT	0.652000														32			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058581	9058581	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9058581G>A	uc002mkp.3	-	2	29069	c.28865C>T	c.(28864-28866)cCc>cTc	p.P9622L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9624	Ser-rich.|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						TCTGCTAGAGGGCATAACTTC	0.522000														53			20		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465377	10465377	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10465377C>T	uc003wtc.3	-	3	6460	c.6231G>A	c.(6229-6231)gaG>gaA	p.E2077E		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2077					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)		CTGGGTGGGCCTCCCCTTCTG	0.642000														244			26		0	0	1	0	0
DEFB114	245928	broad.mit.edu	37	6	49928133	49928133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:49928133G>A	uc011dwp.2	-	1	82	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C		NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN	Homo sapiens defensin, beta 114 (DEFB114), mRNA.	28					defense response to bacterium	extracellular region		p.R28C(2)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TTGGTGCAACGATCAGCATTC	0.353000														51			13		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102709863	102709863	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102709863C>T	uc001phj.1	-	6	1112	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	DD413629_uc021qpi.1_5'Flank	NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	349	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AAACGAGGTCCTTGCTAGTAA	0.373000														74			52		0	0	1	0	0
FAM107A	11170	broad.mit.edu	37	3	58552332	58552332	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58552332C>T	uc003dko.3	-	4	1127	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	FAM107A_uc003dkm.3_Missense_Mutation_p.E140K|FAM107A_uc003dkn.3_Missense_Mutation_p.E140K|FAM107A_uc010hnm.3_Missense_Mutation_p.E168K|FAM107A_uc003dkp.1_3'UTR	NM_007177	NP_009108	O95990	F107A_HUMAN	Homo sapiens family with sequence similarity 107, member A (FAM107A), transcript variant 1, mRNA.	140					regulation of cell growth	nucleus	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		TCTCTCTCTTCGCTGGTCAGT	0.602000														103			10		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881562	69881562	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:69881562C>T	uc001jnm.4	+	2	552	c.367C>T	c.(367-369)Cga>Tga	p.R123*	MYPN_uc001jnl.1_Nonsense_Mutation_p.R123*|MYPN_uc001jnn.4_Intron|MYPN_uc001jno.4_Nonsense_Mutation_p.R123*|MYPN_uc001jnp.1_Nonsense_Mutation_p.R123*|MYPN_uc009xps.3_Nonsense_Mutation_p.R123*|MYPN_uc009xpt.3_Nonsense_Mutation_p.R123*|MYPN_uc010qit.2_5'UTR|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	123	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GGATAACCCTCGAAGTCCCAC	0.433000														67			6		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121485641	121485641	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121485641G>A	uc001pxx.3	+	40	5610	c.5481G>A	c.(5479-5481)ggG>ggA	p.G1827G	SORL1_uc010rzp.1_Silent_p.G673G|SORL1_uc010rzq.1_Silent_p.G442G	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1827	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTGACTTGGGGGATAGCCCTC	0.512000														107			47		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045550	42045551	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:42045550_42045551GG>AA	uc001cgz.4	-	3	6131_6132	c.4918_4919CC>TT	c.(4918-4920)ccg>TTg	p.P1640L	HIVEP3_uc001cha.4_Missense_Mutation_p.P1640L|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1640					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAAACCCCCGGAAGGTTGGGG	0.490000														62			38		0	0	1	0	0
AMN1	196394	broad.mit.edu	37	12	31850770	31850770	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:31850770G>A	uc001rkq.4	-	3	604	c.438C>T	c.(436-438)atC>atT	p.I146I	AMN1_uc001rko.4_Silent_p.I128I|AMN1_uc010skc.2_Silent_p.I128I|AMN1_uc009zjs.3_Non-coding_Transcript|AMN1_uc009zjt.1_Non-coding_Transcript	NM_001113402	NP_001106873	Q8IY45	AMN1_HUMAN	Homo sapiens antagonist of mitotic exit network 1 homolog (S. cerevisiae) (AMN1), transcript variant 1, mRNA.	146										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			CACCTAAATCGATGATCTTTA	0.423000														108			16		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38949552	38949552	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38949552G>A	uc021wvy.1	-	9	1560	c.1361C>T	c.(1360-1362)aCc>aTc	p.T454I		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	454					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTTTTTTGGGGTAAAATATGA	0.388000														94			36		0	0	1	0	0
HIBCH	26275	broad.mit.edu	37	2	191117026	191117026	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:191117026G>A	uc002uru.3	-	7	820	c.525C>T	c.(523-525)ttC>ttT	p.F175F	HIBCH_uc002urv.3_Silent_p.F175F	NM_014362	NP_055177	Q6NVY1	HIBCH_HUMAN	Homo sapiens 3-hydroxyisobutyryl-CoA hydrolase (HIBCH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	175					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	p.F175L(2)		NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCACATCAGGGAACAGTCCTG	0.363000														38			15		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38934840	38934840	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38934840G>A	uc002oit.3	+	5	606	c.476G>A	c.(475-477)gGa>gAa	p.G159E	RYR1_uc002oiu.3_Missense_Mutation_p.G159E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	159	MIR 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGTCTGAAGGAGAAAAGGTC	0.602000														46			26		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6189094	6189094	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6189094C>T	uc001amb.2	-	22	3534	c.3423G>A	c.(3421-3423)aaG>aaA	p.K1141K	CHD5_uc001alz.2_5'UTR|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1141	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCATCACCTTCTTGTTCTGGC	0.647000														36			24		0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614655	247614655	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247614655G>A	uc010pyx.2	-	0	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F210F(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCACCAACACGAAGAAGGCCA	0.562000														48			23		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121498457	121498457	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121498457C>T	uc001pxx.3	+	46	6687	c.6558C>T	c.(6556-6558)ttC>ttT	p.F2186F	SORL1_uc010rzp.1_Silent_p.F1032F|SORL1_uc010rzq.1_Silent_p.F801F	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2186					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCGCAATCTTCTCCTCTGGGG	0.607000														38			7		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324495	152324495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152324495G>A	uc001ezw.4	-	2	5840	c.5767C>T	c.(5767-5769)Cat>Tat	p.H1923Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1923							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)			GTCTGTCCATGAGTAGTTTGG	0.517000														263			63		0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32260977	32260977	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32260977C>T	uc021yvt.1	-	22	1646	c.1473G>A	c.(1471-1473)gaG>gaA	p.E491E	C6orf10_uc011dpx.2_Intron|C6orf10_uc021yvs.1_Silent_p.E408E|C6orf10_uc011dpz.2_Silent_p.E489E|C6orf10_uc021yvu.1_Silent_p.E489E|C6orf10_uc021yvv.1_Silent_p.E475E	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	491	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CCTCAAAACTCTCCTTCTTTT	0.373000														227			13		0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56270365	56270365	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:56270365C>T	uc003xsf.3	+	1	966	c.934C>T	c.(934-936)Ctg>Ttg	p.L312L		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	312						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGCCACCTTTCTGGAAAGTGC	0.478000														47			18		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75991451	75991451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:75991451C>T	uc003kek.3	+	31	4388	c.4166C>T	c.(4165-4167)tCc>tTc	p.S1389F	IQGAP2_uc011csv.2_Missense_Mutation_p.S885F|IQGAP2_uc003kel.3_Missense_Mutation_p.S885F|IQGAP2_uc010izw.1_Missense_Mutation_p.S90F	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1389					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CACGTGTCATCCGAAAATAAA	0.418000														71			32		0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	313789	313789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:313789C>T	uc001qhz.3	-	4	954	c.290G>A	c.(289-291)gGc>gAc	p.G97D	SLC6A12_uc001qia.3_Missense_Mutation_p.G97D|SLC6A12_uc001qib.3_Missense_Mutation_p.G97D|SLC6A12_uc009zdh.2_Missense_Mutation_p.G97D|SLC6A12_uc009zdi.1_Non-coding_Transcript	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	97					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)			GGTGTATTGGCCCAACGCCAC	0.582000														48			17		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2972186	2972186	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:2972186C>T	uc003smv.3	-	10	1887	c.1553G>A	c.(1552-1554)cGa>cAa	p.R518Q		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	518					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)		ATCTGATGTTCGCTTCAGGCT	0.493000			Mis		DLBCL									25			7		0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76980987	76980987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:76980987C>T	uc001oyf.3	-	6	670	c.419G>A	c.(418-420)aGg>aAg	p.R140K		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	140					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	p.R140G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						ATGTGTCATCCTGTATCTTCT	0.333000														31			9		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50118201	50118201	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:50118201G>A	uc003jon.4	+	17	2009	c.1827G>A	c.(1825-1827)ctG>ctA	p.L609L	PARP8_uc011cpz.2_Silent_p.L501L|PARP8_uc003joo.3_Silent_p.L609L|PARP8_uc003jop.3_Silent_p.L567L	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	609						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TGAAAGCACTGGATAGCATAA	0.323000														103			43		0	0	1	0	0
MPZL2	10205	broad.mit.edu	37	11	118134847	118134847	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118134847G>A	uc001psn.3	-	0	405	c.22C>T	c.(22-24)Cgt>Tgt	p.R8C	MPZL2_uc001pso.3_Missense_Mutation_p.R8C	NM_005797	NP_658911	O60487	MPZL2_HUMAN	Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA.	8					anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGCACCGCACGAGTAGAGCTC	0.577000														71			6		0	0	1	0	0
ZNF200	7752	broad.mit.edu	37	16	3274129	3274129	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3274129G>A	uc002cuj.2	-	4	1583	c.951C>T	c.(949-951)ttC>ttT	p.F317F	ZNF200_uc002cum.3_Silent_p.F316F|ZNF200_uc002cuk.2_Silent_p.F317F|ZNF200_uc010bti.2_Silent_p.F316F|ZNF200_uc002cui.2_Silent_p.F316F|ZNF200_uc002cul.3_Silent_p.F316F	NM_003454	NP_932354	P98182	ZN200_HUMAN	Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA.	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						AATTCTGACGGAAGTTTTTTC	0.393000														81			118		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43120225	43120225	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43120225G>A	uc001zqo.2	-	5	877	c.438C>T	c.(436-438)aaC>aaT	p.N146N	TTBK2_uc010bcy.2_Silent_p.N77N|TTBK2_uc001zqp.3_Silent_p.N146N	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	146	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCATAGCGAAGTTCGACTAGA	0.343000														63			9		0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175598335	175598335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:175598335G>A	uc003ity.1	-	6	1324	c.821C>T	c.(820-822)tCa>tTa	p.S274L	GLRA3_uc003itz.1_Missense_Mutation_p.S274L	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	274					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GATCCAGAATGAAACCCAGGA	0.478000														33			11		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89385059	89385059	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89385059G>A	uc010upo.1	+	4	1092	c.718G>A	c.(718-720)Gag>Aag	p.E240K	ACAN_uc002bmx.3_Missense_Mutation_p.E240K|ACAN_uc010upp.1_Missense_Mutation_p.E240K|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	240					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)			AGACACCAACGAGACCTATGA	0.607000														109			31		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87092091	87092091	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87092091C>T	uc003uiv.1	-	3	345	c.269G>A	c.(268-270)gGa>gAa	p.G90E	ABCB4_uc003uiw.1_Missense_Mutation_p.G90E|ABCB4_uc003uix.1_Missense_Mutation_p.G90E|ABCB4_uc003uiy.3_Missense_Mutation_p.G90E	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	90	ABC transmembrane type-1 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GGAGAAGTTTCCTGCAGTATC	0.388000														63			16		0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39798741	39798741	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39798741G>A	uc002okw.2	-	1	1848	c.1848C>T	c.(1846-1848)gcC>gcT	p.A616A		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	616						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CGACGGCGGGGGCAGCCTGGG	0.751000														15			4		0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14424275	14424275	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:14424275G>A	uc002yiy.3	+	4		c.3090G>A			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		ATTCAAGAGGGGGGAAGAtta	0.383000														14			3		0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2876142	2876142	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:2876142C>T	uc002lwp.1	+	2	269	c.182C>T	c.(181-183)tCt>tTt	p.S61F	ZNF556_uc002lwq.3_Missense_Mutation_p.S61F	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T60N(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		CAGGATACTTCTGGAGAAAAA	0.368000														191			53		0	0	1	0	0
KIF2A	3796	broad.mit.edu	37	5	61659025	61659025	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:61659025G>A	uc003jsy.4	+	12	1451	c.1140G>A	c.(1138-1140)agG>agA	p.R380R	KIF2A_uc003jsz.4_Silent_p.R380R|KIF2A_uc003jsx.4_Silent_p.R360R|KIF2A_uc010iwp.3_Silent_p.R361R|KIF2A_uc010iwq.3_Silent_p.R183R	NM_004520	NP_004511	O00139	KIF2A_HUMAN	Homo sapiens kinesin heavy chain member 2A (KIF2A), transcript variant 1, mRNA.	380	Kinesin-motor.				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TGCTAAACAGGAAAACAAAAT	0.378000														13			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075484	9075484	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9075484C>T	uc002mkp.3	-	2	12166	c.11962G>A	c.(11962-11964)Gaa>Aaa	p.E3988K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3990	Ser-rich.|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						ATTGCTTGTTCCCTGGTGGAG	0.488000														35			15		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541169	55541169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55541169C>T	uc003xsd.1	+	3	4875	c.4727C>T	c.(4726-4728)tCt>tTt	p.S1576F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1576					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAGAGTCCTCTCCTGATTTA	0.383000														69			17		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36893670	36893670	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36893670C>T	uc003cgj.3	-	12	4832	c.4584G>A	c.(4582-4584)agG>agA	p.R1528R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1528					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTGAGTTTTCCTTTTATTCC	0.428000														48			21		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199125	155199125	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:155199125G>A	uc021xge.1	-	22	4991	c.4714C>T	c.(4714-4716)Cgg>Tgg	p.R1572W	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.R1534W	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1572					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACCAGTGCCCGGGGGAGCTGA	0.512000														98			23		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432962	104432962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104432962C>T	uc004bbp.2	-	2	2333	c.1732G>A	c.(1732-1734)Gga>Aga	p.G578R	GRIN3A_uc004bbq.1_Missense_Mutation_p.G578R	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	578					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ATGCAATATCCATAGCAGCAC	0.418000														51			37		0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35453185	35453185	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:35453185G>A	uc001byh.3	-	15	3726	c.3498C>T	c.(3496-3498)ttC>ttT	p.F1166F	LOC653160_uc001byd.4_5'Flank|ZMYM6NB_uc001bye.3_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc021olg.1_Silent_p.F479F|ZMYM6_uc010oht.2_Silent_p.F1069F	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	1166					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAAATGAAGggaacatgtcat	0.333000														38			17		0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129744079	129744079	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:129744079G>A	uc001qfg.3	-	18	2404	c.2283C>T	c.(2281-2283)tcC>tcT	p.S761S	NFRKB_uc001qfi.3_Silent_p.S736S|NFRKB_uc001qfh.3_Silent_p.S759S|NFRKB_uc010sbw.1_Silent_p.S746S|NFRKB_uc009zcr.3_Silent_p.S22S	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	736	Ser-rich.				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CAGGTGGAGGGGAGATGGGAA	0.557000														83			28		0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532972	113532972	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113532972C>T	uc001tuk.1	+	6	1848	c.1512C>T	c.(1510-1512)acC>acT	p.T504T		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	504					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						ATACCCAGACCATCCGCATCG	0.642000														102			7		0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5247821	5247821	+	Missense_Mutation	SNP	G	A	A	rs63750556		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5247821G>A	uc001mae.1	-	1	351	c.301C>T	c.(301-303)Cct>Tct	p.P101S	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	101			P -> L (in Brigham; O(2) affinity up).|P -> R (in New Mexico).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	AAGTTCTCAGGATCCACGTGC	0.502000									Sickle Cell Trait					78			23		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489348	133489348	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:133489348C>T	uc002ttp.3	-	16	5779	c.5405G>A	c.(5404-5406)aGg>aAg	p.R1802K	NCKAP5_uc002ttq.3_Missense_Mutation_p.R483K	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1802							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTGAAGAGGCCTCATCCCTCT	0.517000														50			26		0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141310388	141310388	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:141310388C>T	uc011chi.2	-	15	2041	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	CLGN_uc003iii.3_Missense_Mutation_p.R608Q	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	608					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TTAGTCCTTTCGTACTCTTCT	0.373000														68			30		0	0	1	0	0
C8orf47	203111	broad.mit.edu	37	8	99101478	99101478	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:99101478C>T	uc003yih.1	+	1	381	c.233C>T	c.(232-234)cCc>cTc	p.P78L	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	78										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GGTGTTAAACCCCTCCAAGAA	0.527000														113			30		0	0	1	0	0
PI16	221476	broad.mit.edu	37	6	36930864	36930864	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:36930864C>T	uc021yzd.1	+	5	969	c.746C>T	c.(745-747)tCa>tTa	p.S249L	PI16_uc003omz.1_Intron|PI16_uc003ona.3_Missense_Mutation_p.S249L|PI16_uc011dts.1_Missense_Mutation_p.S20L	NM_001199159	NP_001186088	Q6UXB8	PI16_HUMAN	Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 2, mRNA.	249						extracellular region|integral to membrane	peptidase inhibitor activity	p.V248D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACAGAGGTCTCAGGCTCCCTG	0.577000														155			9		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975912	20975912	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20975912C>T	uc010vbe.2	-	52	9294	c.9294G>A	c.(9292-9294)gcG>gcA	p.A3098A	DNAH3_uc010vbd.2_Silent_p.A533A	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3098	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A3098A(3)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCAGTTTATTCGCCTTCTCCA	0.468000														107			43		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80722519	80722519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:80722519G>A	uc001szd.3	+	34	4253	c.4247G>A	c.(4246-4248)cGa>cAa	p.R1416Q		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTTTATCCACGAGACTGTAAG	0.378000														25			13		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129704356	129704356	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:129704356G>A	uc021zfb.1	+	34	5154	c.5049G>A	c.(5047-5049)aaG>aaA	p.K1683K	LAMA2_uc003qbn.3_Silent_p.K1683K|LAMA2_uc003qbo.3_Silent_p.K1683K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1683	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATTCATTAAGGAGCTTGCCC	0.458000														16			10		0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61924237	61924237	+	Missense_Mutation	SNP	G	A	A	rs61740172	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:61924237G>A	uc001xfn.3	+	8	1423	c.1118G>A	c.(1117-1119)aGa>aAa	p.R373K	PRKCH_uc010tsa.2_Missense_Mutation_p.R212K	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	373	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		ATGCTTGCAAGAGTAAAAGAA	0.488000														193			15		0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6428018	6428018	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6428018C>T	uc001qnr.3	+	11	1531	c.1383C>T	c.(1381-1383)ctC>ctT	p.L461L	PLEKHG6_uc001qns.3_Silent_p.L461L|PLEKHG6_uc010sew.2_Silent_p.L461L|PLEKHG6_uc010sex.2_Silent_p.L429L	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	461	PH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TGGAGAAGCTCGTGTGCCAAC	0.582000														46			12		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140769799	140769799	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140769799C>T	uc003lkc.2	+	0	2348	c.2348C>T	c.(2347-2349)tCt>tTt	p.S783F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	805					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)			GGTGATTCATCTGGGGCCTTA	0.388000														237			36		0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72368614	72368614	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72368614C>T	uc021ucp.1	+	3	1264	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	GPR142_uc010wqy.2_Missense_Mutation_p.R422W	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	422						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CAAGACTTTCCGGGCCACTGT	0.617000														60			25		0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121561077	121561077	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:121561077C>T	uc010mdg.3	-	4	1484	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N		NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	420	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGGAGAGGTCCCTGCTGGTC	0.522000														61			16		0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239010604	239010604	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:239010604C>T	uc002vxq.4	+	1	427	c.317C>T	c.(316-318)tCc>tTc	p.S106F		NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	106										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TCGGGCGTCTCCCCGCTGCAC	0.706000														13			7		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32012969	32012969	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32012969C>T	uc003nzl.2	-	31	10937	c.10735G>A	c.(10735-10737)Ggc>Agc	p.G3579S	TNXB_uc003nzg.1_Missense_Mutation_p.G10S|TNXB_uc003nzh.1_Missense_Mutation_p.G48S	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3626					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCAAAGGGGCCCTGGGCCACG	0.647000														40			15		0	0	1	0	0
KLK7	5650	broad.mit.edu	37	19	51485632	51485632	+	Silent	SNP	G	A	A	rs113100315		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51485632G>A	uc002puo.3	-	1	126	c.24C>T	c.(22-24)ccC>ccT	p.P8P	KLK7_uc002pup.3_Silent_p.P8P|KLK7_uc021uyj.1_Missense_Mutation_p.P51S|KLK7_uc010eok.3_Intron	NM_139277	NP_001193982	P49862	KLK7_HUMAN	Homo sapiens kallikrein-related peptidase 7 (KLK7), transcript variant 2, mRNA.	8					epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		AGATCTGCAGGGGCAGGAGAA	0.592000														9			4		0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471878	47471878	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:47471878C>T	uc001rpm.3	-	2	1563	c.908G>A	c.(907-909)gGg>gAg	p.G303E	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.G303E|AMIGO2_uc001rpl.3_Missense_Mutation_p.G303E|AMIGO2_uc021qxg.1_Missense_Mutation_p.G303E	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	303	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		p.G303V(2)|p.G303W(1)|p.V302V(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CAGTCTTTCCCCGACCTGAGC	0.483000														153			18		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71535177	71535177	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:71535177C>T	uc002atb.1	+	3	733	c.654C>T	c.(652-654)gtC>gtT	p.V218V	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	218	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCACCAGGTCCCCCAACATG	0.602000														85			34		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49428229	49428229	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49428229G>A	uc001rta.4	-	36	10471	c.10471C>T	c.(10471-10473)Cgt>Tgt	p.R3491C		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3491	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGGTTGGGACGAGGCTGGGAG	0.587000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				12			9		0	0	1	0	0
RPRD1B	58490	broad.mit.edu	37	20	36676878	36676878	+	Missense_Mutation	SNP	C	T	T	rs140300358		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36676878C>T	uc002xho.4	+	2	812	c.410C>T	c.(409-411)cCc>cTc	p.P137L		NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1B (RPRD1B), mRNA.	137										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						AGCCCTCCCCCCAAAGGTAGA	0.478000														64			16		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283247	152283247	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152283247C>T	uc001ezu.1	-	2	4151	c.4115G>A	c.(4114-4116)gGc>gAc	p.G1372D	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1372	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCCAATGCCTGAGTGTCT	0.537000									Ichthyosis					560			213		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915756	39915756	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39915756C>T	uc010xuz.2	+	18	4308	c.3983C>T	c.(3982-3984)cCc>cTc	p.P1328L	PLEKHG2_uc010xuy.2_Intron|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.P1106L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	1328	Poly-Pro.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCACCACCTCCCCCAGCCAGG	0.741000														14			4		0	0	1	0	0
ADSL	158	broad.mit.edu	37	22	40762483	40762483	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:40762483C>T	uc003ayp.4	+	12	1471	c.1412C>T	c.(1411-1413)cCa>cTa	p.P471L	ADSL_uc003ays.4_Missense_Mutation_p.P412L	NM_000026	NP_000017	P30566	PUR8_HUMAN	Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA.	471					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CTGTTAAAACCATATGAAAGC	0.358000														49			22		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123971151	123971151	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:123971151C>T	uc001lfv.3	+	8	7571	c.7211C>T	c.(7210-7212)gCt>gTt	p.A2404V	TACC2_uc001lfw.3_Missense_Mutation_p.A550V|TACC2_uc009xzx.3_Missense_Mutation_p.A2359V|TACC2_uc010qtv.2_Missense_Mutation_p.A2408V|TACC2_uc001lfx.3_Missense_Mutation_p.A108V|TACC2_uc001lfy.3_Missense_Mutation_p.A108V|TACC2_uc001lfz.3_Missense_Mutation_p.A482V|TACC2_uc001lga.3_Missense_Mutation_p.A482V|TACC2_uc009xzy.3_Missense_Mutation_p.A482V|TACC2_uc001lgb.3_Missense_Mutation_p.A439V|TACC2_uc010qtw.1_Missense_Mutation_p.A499V	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2404						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)				CCAGCCAGTGCTATGGAAGCC	0.542000														94			25		0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73100164	73100164	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73100164C>T	uc002jmr.3	+	5	1625	c.1253C>T	c.(1252-1254)gCc>gTc	p.A418V	SLC16A5_uc002jmt.3_Missense_Mutation_p.A418V|SLC16A5_uc002jmu.3_Missense_Mutation_p.A418V|SLC16A5_uc010wrt.2_Missense_Mutation_p.A458V	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	418					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	AGCTTCTACGCCCTGCAGAAG	0.567000														108			18		0	0	1	0	0
EAF2	55840	broad.mit.edu	37	3	121591511	121591511	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121591511C>T	uc003een.3	+	4	711	c.612C>T	c.(610-612)tcC>tcT	p.S204S	EAF2_uc003eeo.3_Silent_p.S74S	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	204	Necessary for transactivation activity.|Ser-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	p.S204S(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		ATTGCAAATCCTCTACTTCTG	0.393000														125			21		0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100154749	100154749	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:100154749G>A	uc001dsg.3	+	6	1376	c.933G>A	c.(931-933)gaG>gaA	p.E311E		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	311					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GTCTTTCAGAGGAAAGGGGAA	0.443000														83			15		0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931954	150931954	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:150931954G>A	uc003eyr.1	-	2	629	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.P51S|P2RY14_uc021xfz.1_Missense_Mutation_p.P51S	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	51						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTAGAGCTGGGCACGTAAAAG	0.438000														96			30		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511765	61511765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61511765G>A	uc002ydr.2	-	15	5855	c.5543C>T	c.(5542-5544)cCc>cTc	p.P1848L	DIDO1_uc002yds.2_Missense_Mutation_p.P1848L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1848	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCCCCATGGGGATCCTTGCG	0.607000														117			13		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121981045	121981045	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121981045C>T	uc003eew.4	+	3	1601	c.1163C>T	c.(1162-1164)tCg>tTg	p.S388L	CASR_uc003eev.4_Missense_Mutation_p.S388L	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	388					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	p.S388S(1)		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)	AGCAACAGCTCGACAGCCTTC	0.488000														60			9		0	0	1	0	0
PRRT2	112476	broad.mit.edu	37	16	29824855	29824855	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:29824855C>T	uc002dud.2	+	1	781	c.480C>T	c.(478-480)ctC>ctT	p.L160L	BOLA2_uc010bzb.1_Intron|AK097472_uc002duc.1_5'Flank|PRRT2_uc002due.4_Silent_p.L160L|PRRT2_uc002duf.1_Silent_p.L160L|C16orf53_uc002dug.4_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	Homo sapiens proline-rich transmembrane protein 2 (PRRT2), transcript variant 1, mRNA.	160	Pro-rich.				response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						AACCAGAGCTCCCTACCCAGG	0.632000														28			12		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544596	82544596	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82544596G>A	uc003uhx.2	-	6	12995	c.12706C>T	c.(12706-12708)Ctc>Ttc	p.L4236F	PCLO_uc003uhv.2_Missense_Mutation_p.L4236F|PCLO_uc010lec.3_Missense_Mutation_p.L1201F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4167	Ser-rich.				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						TCTTGAAGGAGCCTTGCCCTG	0.398000														41			13		0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56417497	56417497	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56417497C>T	uc001sjb.1	+	2	289	c.130C>T	c.(130-132)Cct>Tct	p.P44S	IKZF4_uc010sqa.1_Intron|IKZF4_uc001sjc.1_Missense_Mutation_p.P44S|IKZF4_uc001sjd.1_Intron|IKZF4_uc009zoi.1_Intron|IKZF4_uc001sje.1_5'Flank	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	Homo sapiens IKAROS family zinc finger 4 (Eos) (IKZF4), mRNA.	44					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGATTTCTTGCCTCAGGCCCA	0.448000														31			10		0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32474867	32474867	+	Missense_Mutation	SNP	C	T	T	rs150636128		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:32474867C>T	uc002roi.3	-	3	2327	c.2066G>A	c.(2065-2067)aGc>aAc	p.S689N	NLRC4_uc021vfq.1_Missense_Mutation_p.S689N|NLRC4_uc002roj.2_Missense_Mutation_p.S689N|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	689					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			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)					CAGCCTGAGGCTTGTGGCAGA	0.468000														92			34		0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95057176	95057176	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:95057176C>T	uc001ydm.2	+	4	1191	c.981C>T	c.(979-981)ttC>ttT	p.F327F	SERPINA3_uc001ydo.4_5'Flank	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	327					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GTAACGTCTTCACCTCCCATG	0.522000														78			30		0	0	1	0	0
MTHFD2	10797	broad.mit.edu	37	2	74438352	74438352	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74438352C>T	uc002skk.3	+	5	776	c.697C>T	c.(697-699)Cga>Tga	p.R233*	MTHFD2_uc002skj.3_Nonsense_Mutation_p.R131*|MTHFD2_uc010yro.2_Nonsense_Mutation_p.R131*|MTHFD2_uc010yrp.2_Nonsense_Mutation_p.R69*	NM_006636	NP_006627	P13995	MTDC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase (MTHFD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	233					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AATATCTCATCGATATACTCC	0.398000														127			39		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12618853	12618853	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:12618853G>A	uc002gno.2	+	2	438	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	MYOCD_uc002gnn.2_Missense_Mutation_p.E47K	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	47					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACGTCCAGCTGAATTCCATGA	0.418000														26			20		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85981972	85981972	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:85981972C>T	uc010qmc.2	-	3	1395	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	LRIT2_uc001kcy.3_Missense_Mutation_p.D453N	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	453						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CCACCAGCATCTCTGCCTGTT	0.597000														94			35		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55138596	55138596	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:55138596C>T	uc003han.4	+	8	1604	c.1273C>T	c.(1273-1275)Cat>Tat	p.H425Y	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.H319Y|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	425	Ig-like C2-type 5.				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			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)	CGATGATCACCATGGCTCAAC	0.468000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				94			28		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132529451	132529451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:132529451C>T	uc001ujn.3	+	36	6889	c.6737C>T	c.(6736-6738)cCt>cTt	p.P2246L	EP400_uc021rgq.1_Missense_Mutation_p.P2245L|EP400_uc001ujm.3_Missense_Mutation_p.P2165L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2282					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AAGCTGCCCCCTGTGTACGTG	0.627000														45			27		0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133787240	133787240	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:133787240G>A	uc004bzz.3	-	4	1130	c.885C>T	c.(883-885)ttC>ttT	p.F295F	FIBCD1_uc011mcc.2_Silent_p.F295F	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	295	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		AGCCCCGGAAGAAGTTCACGG	0.677000														8			5		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40367848	40367848	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40367848G>A	uc002omp.4	-	28	13120	c.13112C>T	c.(13111-13113)tCc>tTc	p.S4371F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4371	TIL 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGTGCAGGGGACGGACAGCT	0.622000														46			28		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121747930	121747930	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:121747930G>A	uc010flp.3	+	12	4470	c.4440G>A	c.(4438-4440)caG>caA	p.Q1480Q	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Silent_p.Q1152Q|GLI2_uc002tmu.4_Silent_p.Q1135Q	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1480					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGGCCTGTCAGGACAGCATCC	0.632000														100			34		0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122618396	122618396	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:122618396C>T	uc001ubq.3	+	8	1702	c.1594C>T	c.(1594-1596)Ccc>Tcc	p.P532S	MLXIP_uc001ubr.3_Missense_Mutation_p.P283S|MLXIP_uc001ubs.1_Missense_Mutation_p.P139S|MLXIP_uc001ubt.3_Missense_Mutation_p.P139S	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CACCCGGCCTCCCCAGCCACG	0.612000														19			6		0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239025621	239025621	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:239025621G>A	uc002vxq.4	+	4	1043	c.933G>A	c.(931-933)gcG>gcA	p.A311A	ESPNL_uc010fyw.3_Intron	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	311										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CAGACCTGGCGGAGTACCATG	0.677000														17			10		0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6527981	6527981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6527981G>A	uc001anp.1	-	20	3644	c.3146C>T	c.(3145-3147)cCc>cTc	p.P1049L	PLEKHG5_uc001ann.1_Missense_Mutation_p.P1009L|PLEKHG5_uc001ano.1_Missense_Mutation_p.P1028L|PLEKHG5_uc001anq.1_Intron|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.P533L|PLEKHG5_uc009vma.1_Missense_Mutation_p.P812L|PLEKHG5_uc010nzr.1_Missense_Mutation_p.P1041L|PLEKHG5_uc001ank.1_Missense_Mutation_p.P972L|PLEKHG5_uc009vmb.1_Intron|PLEKHG5_uc001anl.1_Missense_Mutation_p.P972L|PLEKHG5_uc001anm.1_Missense_Mutation_p.P972L	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	1028					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTGGTGGGGGCTCAGGCTG	0.672000														8			5		0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31487759	31487759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31487759C>T	uc003ajl.2	+	10	1799	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	SMTN_uc003ajk.2_Missense_Mutation_p.R520W|SMTN_uc003ajm.2_Missense_Mutation_p.R520W|SMTN_uc011ale.2_Missense_Mutation_p.R574W|SMTN_uc011alf.2_Missense_Mutation_p.R576W|SMTN_uc003ajn.2_Missense_Mutation_p.R512W|SMTN_uc011alg.2_Intron|SMTN_uc003ajo.2_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.2_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	520					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GACCCTGGCTCGGCTGGGCAG	0.662000														17			14		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116285273	116285273	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116285273G>A	uc004bhq.3	+	17	2031	c.1822G>A	c.(1822-1824)Gac>Aac	p.D608N	RGS3_uc004bhr.3_Missense_Mutation_p.D496N|RGS3_uc004bhs.3_Missense_Mutation_p.D498N|RGS3_uc004bht.3_Missense_Mutation_p.D327N|RGS3_uc010muy.3_Missense_Mutation_p.D327N|RGS3_uc004bhu.3_Missense_Mutation_p.D234N	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	608					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGCCGCTGCGACGTCCTGAG	0.582000														118			12		0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139175174	139175174	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:139175174G>A	uc003qif.2	+	9	1406	c.1081G>A	c.(1081-1083)Ggt>Agt	p.G361S	ECT2L_uc021zfx.1_Missense_Mutation_p.G361S|ECT2L_uc011edq.1_Missense_Mutation_p.G292S	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	361					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.G361C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CTATAAAATTGGTGTTAAAAA	0.363000			"""N, Splice, Mis"""		ETP ALL									82			50		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70964887	70964887	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:70964887C>T	uc003pfg.4	-	22	1736	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E	COL9A1_uc003pfe.4_Missense_Mutation_p.G99E|COL9A1_uc003pff.4_Missense_Mutation_p.G283E	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	526	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACCAGGAATTCCTCTAGCACC	0.438000														90			55		0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203420344	203420344	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:203420344C>T	uc002uzf.4	+	11	3104	c.1956C>T	c.(1954-1956)acC>acT	p.T652T	BMPR2_uc010ftr.3_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	652					BMP signaling pathway|anterior/posterior pattern formation|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TTGGGCCAACCCCTGTCTGCT	0.443000														64			18		0	0	1	0	0
RTBDN	83546	broad.mit.edu	37	19	12939478	12939479	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12939478_12939479GG>AA	uc002mvj.3	-	4	771_772	c.453_454CC>TT	c.(451-456)tgccag>tgTTag	p.Q152*	RTBDN_uc002mvh.1_Nonsense_Mutation_p.Q152*|RTBDN_uc002mvi.3_Nonsense_Mutation_p.Q120*|RTBDN_uc021upo.1_Nonsense_Mutation_p.Q130*	NM_031429	NP_001074466	Q9BSG5	RTBDN_HUMAN	Homo sapiens retbindin (RTBDN), transcript variant 2, mRNA.	120						extracellular region		p.Q152Q(1)		kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						TACCAGGCCTGGCAGAGCTCCT	0.653000														36			9		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55266593	55266593	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55266593C>T	uc003pcm.1	+	8	1213	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	376						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TACAGAACTTCCAGAATATCA	0.358000														68			16		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130509442	130509442	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130509442G>A	uc004bsc.3	-	5	1390	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S	SH2D3C_uc010mxo.3_Silent_p.S256S|SH2D3C_uc004bry.3_Silent_p.S258S|SH2D3C_uc004brz.4_Silent_p.S62S|SH2D3C_uc011mak.2_Silent_p.S62S|SH2D3C_uc004bsb.3_Silent_p.S348S|SH2D3C_uc004bsa.3_Silent_p.S259S	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	416					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGTAGGCAGGGGAGCTAGGGC	0.597000														88			16		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766365	19766365	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19766365G>A	uc002nnh.4	-	9	1396	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	ATP13A1_uc002nnf.4_5'Flank|ATP13A1_uc002nng.3_Silent_p.I338I	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	456	Poly-Ala.				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAGCTGCAGCGATGGCAAACA	0.607000														31			18		0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103260388	103260388	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:103260388G>A	uc001tjq.1	-	4	968	c.495C>T	c.(493-495)gcC>gcT	p.A165A	PAH_uc010swc.1_Silent_p.A165A	NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	165					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)	GGTAGTTGTAGGCAATGTCAG	0.488000														83			11		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56092314	56092314	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56092314C>T	uc001shh.3	-	6	1277	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	ITGA7_uc001shg.3_Missense_Mutation_p.E349K|ITGA7_uc010sps.2_Missense_Mutation_p.E256K|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Missense_Mutation_p.E236K	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	393					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCAGCTCTTCTTGGCGCTCA	0.612000														71			38		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4968016	4968016	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4968016G>A	uc010qys.2	-	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	105					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)		ATCCATGAATGAAGAATTCCT	0.443000														154			53		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520398	131520398	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:131520398G>A	uc021voy.1	+	0	753	c.753G>A	c.(751-753)ggG>ggA	p.G251G	FAM123C_uc002trw.2_Silent_p.G251G|FAM123C_uc010fmv.2_Silent_p.G251G|FAM123C_uc010fms.1_Silent_p.G251G|FAM123C_uc010fmt.1_Silent_p.G251G|FAM123C_uc010fmu.1_Silent_p.G251G	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	251										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CGGGTTGTGGGGAGGTGTTCG	0.637000														79			29		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75022292	75022292	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75022292G>A	uc001xqa.3	-	3	1322	c.935C>T	c.(934-936)tCc>tTc	p.S312F		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	312					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGGGCGTTGGAAGAGAGCTG	0.657000														78			13		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155953	151155953	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151155953G>A	uc011bod.2	-	5	6396	c.6396C>T	c.(6394-6396)gtC>gtT	p.V2132V	IGSF10_uc011bob.2_Silent_p.V159V|IGSF10_uc011boc.2_Silent_p.V111V	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2132	Ig-like C2-type 7.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGTTAAGTGGACCTTCATTT	0.443000														51			7		0	0	1	0	0
NRG2	9542	broad.mit.edu	37	5	139232060	139232060	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:139232060G>A	uc003lev.2	-	8	1755	c.1525C>T	c.(1525-1527)Cct>Tct	p.P509S	NRG2_uc003lew.2_Missense_Mutation_p.P503S|NRG2_uc003lex.2_Missense_Mutation_p.P501S|NRG2_uc003ley.2_Missense_Mutation_p.P495S|NRG2_uc021yed.1_Missense_Mutation_p.P435S	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	501					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGAGAAGGAGAACAGGAG	0.532000														87			11		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269763	150269763	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150269763G>A	uc003whl.3	+	2	687	c.605G>A	c.(604-606)aGg>aAg	p.R202K	GIMAP4_uc011kuu.2_Missense_Mutation_p.R63K|GIMAP4_uc011kuv.2_Missense_Mutation_p.R216K	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	202							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGGCCCAGAGGGCACAGTTG	0.547000														97			27		0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155528041	155528041	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155528041G>A	uc003ioj.3	-	7	1086	c.945C>T	c.(943-945)gcC>gcT	p.A315A	FGG_uc003iog.3_Silent_p.A315A	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	315	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGCCATCAAAGGCATCTCCAG	0.463000														95			56		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688486	26688487	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26688486_26688487CC>TT	uc003acb.3	+	1	405_406	c.209_210CC>TT	c.(208-210)ccc>cTT	p.P70L	SEZ6L_uc003acd.3_Missense_Mutation_p.P70L|SEZ6L_uc011akd.2_Missense_Mutation_p.P70L|SEZ6L_uc003ace.3_Missense_Mutation_p.P70L|SEZ6L_uc011akc.2_Missense_Mutation_p.P70L|SEZ6L_uc003acc.3_Missense_Mutation_p.P70L|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	70						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GTAACAGCGCCCCCCAGTTCCT	0.634000														42			8		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354135	57354135	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:57354135C>T	uc003xsz.2	-	1	581	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	PENK_uc003xta.3_Missense_Mutation_p.R167Q	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	167					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GCTACGCTCTCGGTTGTCCCC	0.527000														136			8		0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502502	91502502	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:91502502G>A	uc001tbm.3	-	1	644	c.255C>T	c.(253-255)gcC>gcT	p.A85A		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	85					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CATTCTCAAAGGCCTTTTCAT	0.378000														45			21		0	0	1	0	0
C15orf54	400360	broad.mit.edu	37	15	39544521	39544521	+	Missense_Mutation	SNP	C	T	T	rs140379180	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:39544521C>T	uc001zkg.2	+	1	553	c.185C>T	c.(184-186)cCt>cTt	p.P62L	C15orf54_uc021sjb.1_Missense_Mutation_p.P62L	NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	Homo sapiens chromosome 15 open reading frame 54 (C15orf54), mRNA.	62										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		ACGGAGCTCCCTCTCAGGTTC	0.443000														289			109		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232704	21232704	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21232704C>T	uc002red.3	-	25	7164	c.7036G>A	c.(7036-7038)Gag>Aag	p.E2346K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2346					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCATACCTCTCGATTAACTCA	0.373000														90			23		0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241569451	241569451	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241569451G>A	uc010fzi.2	+	5	1047	c.175G>A	c.(175-177)Ggc>Agc	p.G59S	GPR35_uc010fzh.2_Missense_Mutation_p.G59S|GPR35_uc021vze.1_Missense_Mutation_p.G28S|GPR35_uc002vzs.2_Missense_Mutation_p.G28S	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	28						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CGCCTACTTGGGCGTCCTGCT	0.627000														64			19		0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131308971	131308971	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:131308971C>T	uc003kvx.2	-	11	1300	c.1191G>A	c.(1189-1191)cgG>cgA	p.R397R	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Silent_p.R362R|ACSL6_uc003kvy.2_Silent_p.R397R|ACSL6_uc003kvz.2_Silent_p.R297R|ACSL6_uc021ydh.1_Silent_p.R297R|ACSL6_uc010jdo.2_Silent_p.R372R|ACSL6_uc003kwa.2_Silent_p.R383R|ACSL6_uc003kvw.2_Silent_p.R18R|ACSL6_uc010jdn.2_Silent_p.R387R|ACSL6_uc010jdp.1_Non-coding_Transcript	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	372					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTCGTACATCCGGTTCAGCA	0.562000														68			22		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28711559	28711559	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28711559C>T	uc002kwn.3	-	14	2747	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K	DSC1_uc002kwm.3_Missense_Mutation_p.E829K|BC042382_uc002kwo.1_Non-coding_Transcript	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	829					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GAACTTACTTCGCCAAGCCGA	0.453000														96			24		0	0	1	0	0
PSAP	5660	broad.mit.edu	37	10	73591668	73591668	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73591668G>A	uc001jsm.3	-	2	288	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S		NM_002778	NP_002769	P07602	SAP_HUMAN	Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA.	62	Saposin B-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	Golgi apparatus|extracellular space|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						ATGTCGCAGGGAAGGGATTTC	0.502000														123			47		0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89574082	89574082	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:89574082C>T	uc003hrw.1	+	5	692	c.526C>T	c.(526-528)Ccc>Tcc	p.P176S	HERC3_uc003hrv.3_Missense_Mutation_p.P176S|HERC3_uc011cdn.1_Missense_Mutation_p.P58S	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	176					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GAAGGAGTTCCCCTCCCAAGC	0.562000														36			15		0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185229469	185229469	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:185229469G>A	uc003fpm.3	-	8	1221	c.1111C>T	c.(1111-1113)Cag>Tag	p.Q371*	LIPH_uc010hyh.3_Nonsense_Mutation_p.Q337*	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	371					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TGATATTTCTGAAATGTGGTG	0.393000														80			28		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450029	105450029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:105450029G>A	uc022cca.1	+	0	604	c.604G>A	c.(604-606)Gat>Aat	p.D202N	MUM1L1_uc004emg.2_Missense_Mutation_p.D202N|MUM1L1_uc004emf.2_Missense_Mutation_p.D202N	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	202										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACTTTCGGAAGATAATGATGA	0.383000														12			4		0	0	1	0	0
TEDDM1	127670	broad.mit.edu	37	1	182368876	182368876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:182368876G>A	uc001gpe.3	-	0	876	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F		NM_172000	NP_741997	Q5T9Z0	TEDM1_HUMAN	Homo sapiens transmembrane epididymal protein 1 (TEDDM1), mRNA.	249						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						AACTTGTAGAGGGGTCCTGGA	0.517000														55			32		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997406	115997406	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:115997406G>A	uc003ibu.3	-	1	1466	c.787C>T	c.(787-789)Cat>Tat	p.H263Y	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	263	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTCCATCATGAAGCCCCAGA	0.438000														166			48		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96025687	96025687	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96025687G>A	uc001kjk.3	+	15	4887	c.4253G>A	c.(4252-4254)gGa>gAa	p.G1418E	PLCE1_uc010qnx.2_Missense_Mutation_p.G1402E|PLCE1_uc001kjm.3_Missense_Mutation_p.G1110E	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1418	PI-PLC X-box.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAGCTCAAAGGAGAATCCTCG	0.423000														71			34		0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6594233	6594233	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:6594233C>T	uc002gdj.3	-	9	1390	c.1302G>A	c.(1300-1302)ggG>ggA	p.G434G	SLC13A5_uc010clq.3_Silent_p.G391G|SLC13A5_uc002gdk.3_Silent_p.G417G|SLC13A5_uc010vtf.2_Silent_p.G434G	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	434						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CCATCTGCTTCCCCATCCACA	0.627000														50			41		0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	59844489	59844489	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:59844489G>A	uc009wac.3	+	4	746	c.534G>A	c.(532-534)aaG>aaA	p.K178K	FGGY_uc001czg.2_Silent_p.K66K|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Silent_p.K178K|FGGY_uc001czl.4_Silent_p.K90K	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	178					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TATCGTGGAAGGCAACAGGTG	0.383000														82			29		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248684977	248684977	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248684977G>A	uc001ien.1	+	0	30	c.30G>A	c.(28-30)aaG>aaA	p.K10K		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTCTGAAAAGGGATTTCTTC	0.413000														162			34		0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19319212	19319212	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:19319212G>A	uc010vyw.2	+	13	1851	c.1620G>A	c.(1618-1620)acG>acA	p.T540T	RNF112_uc021tsa.1_Non-coding_Transcript	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	540							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						ACTCCTACACGATGCGCTTCT	0.657000														18			17		0	0	1	0	0
AX747261	0	broad.mit.edu	37	9	99883946	99883946	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:99883946G>A	uc004aww.1	-	1		c.1848C>T								Homo sapiens cDNA FLJ34611 fis, clone KIDNE2014112.																		GAAGCATGAGGGACAGAAGAG	0.577000														11			7		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45284584	45284584	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45284584C>T	uc002ozs.3	+	2	684	c.621C>T	c.(619-621)tcC>tcT	p.S207S	CBLC_uc010ejt.3_Silent_p.S207S	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	207	Cbl-PTB.|EF-hand-like.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GGCACGTGTCCATCTTCGAGT	0.607000			M		AML									77			30		0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746666	77746666	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:77746666C>T	uc002snr.3	-	2	744	c.329G>A	c.(328-330)aGa>aAa	p.R110K	LRRTM4_uc002snq.3_Missense_Mutation_p.R110K|LRRTM4_uc002sns.2_Missense_Mutation_p.R110K|LRRTM4_uc002snt.2_Missense_Mutation_p.R111K	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	110						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTCTTTCAGTCTACGGATCCC	0.388000														54			13		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26988280	26988280	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:26988280C>T	uc003jgs.1	-	1	330	c.161G>A	c.(160-162)gGc>gAc	p.G54D	CDH9_uc010iug.3_Missense_Mutation_p.G54D	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	54	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCACATCCAGCCACGCTTGGT	0.388000														38			16		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15931994	15931994	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:15931994G>A	uc002ddx.3	-	1	223	c.116C>T	c.(115-117)cCc>cTc	p.P39L	MYH11_uc002ddv.3_Missense_Mutation_p.P39L|MYH11_uc002ddw.3_Missense_Mutation_p.P39L|MYH11_uc002ddy.3_Missense_Mutation_p.P39L|MYH11_uc010bvg.3_5'UTR|MYH11_uc002deb.3_Missense_Mutation_p.P39L	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	39	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTTCTCCGAGGGGACCCAGAC	0.572000			T	CBFB	AML									142			23		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73063711	73063711	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73063711G>A	uc004ebm.1	-	0		c.8878C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GTACTACAAAGGAAAGGTGAT	0.403000														3			12		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287627	16287627	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:16287627C>T	uc010gqp.2	-	0	311	c.259G>A	c.(259-261)Gac>Aac	p.D87N	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	87										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GCAGAATCGTCGTGGTCTCCA	0.597000														374			54		0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32239246	32239246	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:32239246G>A	uc003jhq.3	-	12	1375	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	MTMR12_uc010iuk.3_Missense_Mutation_p.S402F|MTMR12_uc010iul.3_Missense_Mutation_p.S402F	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	402	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CACCAGAGAGGAAATGAGACA	0.502000														52			14		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435398	158435398	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158435398G>A	uc010pij.2	+	0	47	c.47G>A	c.(46-48)gGc>gAc	p.G16D		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GTCGTCCTCGGCTTCTCATCC	0.507000														58			12		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43507295	43507295	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43507295C>T	uc001zrb.4	-	2	818	c.518G>A	c.(517-519)aGa>aAa	p.R173K	EPB42_uc001zra.4_Missense_Mutation_p.R143K|EPB42_uc010udm.2_Intron	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	143					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AAACTTACCTCTATTCCAGGG	0.597000														32			9		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8188758	8188758	+	Missense_Mutation	SNP	C	T	T	rs138166112		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8188758C>T	uc002mjf.3	-	21	2883	c.2866G>A	c.(2866-2868)Gat>Aat	p.D956N		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	956	TB 5.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GACTCGGGATCCGGGCAGGCC	0.662000														37			9		0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241953905	241953905	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:241953905G>A	uc001hzg.2	+	23	3081	c.2874G>A	c.(2872-2874)atG>atA	p.M958I	WDR64_uc021plh.1_Missense_Mutation_p.M585I|WDR64_uc021pli.1_Missense_Mutation_p.M511I	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	958										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GGAGAAAAATGAGCTCAGTGT	0.388000														239			18		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47538911	47538911	+	Missense_Mutation	SNP	G	A	A	rs149876632		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47538911G>A	uc003gxk.1	+	8	1516	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.R436Q	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	451					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATGGTTTTTCGAAGATGTAGT	0.443000														24			24		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150432701	150432701	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:150432701C>T	uc009wlr.3	+	8	1520	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F	RPRD2_uc010pcc.1_Missense_Mutation_p.S414F|RPRD2_uc001eup.4_Missense_Mutation_p.S414F	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	440							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTTTCCCCTTCCCCAGCATTG	0.448000														24			10		0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103564014	103564014	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:103564014G>A	uc003ykt.2	+	0	167	c.59G>A	c.(58-60)aGa>aAa	p.R20K		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	20					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AAGGTGGACAGAGAACTAAGG	0.483000														119			14		0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27128577	27128577	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:27128577C>T	uc001zbd.2	+	5	902	c.370C>T	c.(370-372)Ctt>Ttt	p.L124F	GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Missense_Mutation_p.L124F	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	124					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAACAACCTCCTTGCCAGCAA	0.547000														80			23		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390723	197390723	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197390723G>A	uc001gtz.3	+	5	1974	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	CRB1_uc010poz.2_Missense_Mutation_p.E520K|CRB1_uc009wza.3_Missense_Mutation_p.E477K|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Missense_Mutation_p.E589K|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.E70K|CRB1_uc001gub.1_Missense_Mutation_p.E238K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	589	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTCCTGTAAGGAGAAATGCAT	0.458000														117			36		0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37406712	37406712	+	Nonsense_Mutation	SNP	G	A	A	rs147099571		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:37406712G>A	uc002rpu.3	-	3	325	c.304C>T	c.(304-306)Cga>Tga	p.R102*	SULT6B1_uc010yni.2_Non-coding_Transcript	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA.	140						cytoplasm	sulfotransferase activity	p.R102>?(2)|p.R102Q(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TTAGGGTTTCGAAATATCACC	0.358000														87			49		0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204289	9204289	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9204289C>T	uc010xkj.2	+	0	369	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATGACCGGTTCGTGGCCATCT	0.552000														60			30		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89943398	89943398	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89943398G>A	uc003kju.3	+	16	3202	c.3106G>A	c.(3106-3108)Gtc>Atc	p.V1036I	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1036					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACTTGCATGGTCCAGTATGC	0.438000														73			23		0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139745	40139745	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:40139745G>A	uc003ayg.3	-	6	2014	c.1763C>T	c.(1762-1764)tCa>tTa	p.S588L		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	588										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GCTTATTTGTGAACTATTCAG	0.413000														67			26		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585375	82585375	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82585375C>T	uc003uhx.2	-	4	5183	c.4894G>A	c.(4894-4896)Gaa>Aaa	p.E1632K	PCLO_uc003uhv.2_Missense_Mutation_p.E1632K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1563					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E1632K(3)|p.E1563K(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						TCATCGTCTTCATCATGCCAT	0.428000														200			83		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8521544	8521544	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:8521544G>A	uc003zkk.3	-	19	1437	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C	PTPRD_uc003zkp.3_Missense_Mutation_p.R232C|PTPRD_uc003zkq.3_Missense_Mutation_p.R232C|PTPRD_uc003zkr.3_Missense_Mutation_p.R226C|PTPRD_uc003zks.3_Missense_Mutation_p.R222C|PTPRD_uc022bdj.1_Missense_Mutation_p.R229C	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	232					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R232C(3)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGGACACGGCGAACTGGAACA	0.448000										TSP Lung(15;0.13)				71			29		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84592779	84592779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:84592779C>T	uc002bjz.4	+	16	2335	c.2111C>T	c.(2110-2112)cCc>cTc	p.P704L	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.P704L	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	704	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.C703*(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGCCCTGTCCCCCCAGGTAT	0.542000														43			9		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	75005954	75005954	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75005954G>A	uc001dge.2	+	25	2758	c.2691G>A	c.(2689-2691)gaG>gaA	p.E897E	FPGT-TNNI3K_uc001dgf.2_Silent_p.E796E	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	796						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TGTCTTTGGAGGAGATGAAAA	0.358000														57			20		0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39963869	39963869	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39963869C>T	uc002olo.4	+	23	2464	c.2285C>T	c.(2284-2286)aCc>aTc	p.T762I	SUPT5H_uc002olp.4_Missense_Mutation_p.T762I|SUPT5H_uc002olq.4_Missense_Mutation_p.T758I|SUPT5H_uc002oln.4_Missense_Mutation_p.T762I|SUPT5H_uc002olr.4_Missense_Mutation_p.T762I|SUPT5H_uc002ols.1_Missense_Mutation_p.T385I|SUPT5H_uc010egp.1_Silent_p.D127D	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	762	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCGGCATGACCTCGACCTAT	0.652000														62			20		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904562	55904562	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55904562C>T	uc010riz.2	-	0	633	c.633G>A	c.(631-633)atG>atA	p.M211I		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M211I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GAACTGTAATCATGGAAAAAA	0.358000														85			15		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24822131	24822131	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:24822131G>A	uc001iru.4	+	15	3782	c.3379G>A	c.(3379-3381)Gaa>Aaa	p.E1127K	KIAA1217_uc001irs.3_Missense_Mutation_p.E1047K|KIAA1217_uc001irt.4_Missense_Mutation_p.E1092K|KIAA1217_uc010qcy.2_Missense_Mutation_p.E1091K|KIAA1217_uc010qcz.2_Missense_Mutation_p.E1092K|KIAA1217_uc001irw.3_Missense_Mutation_p.E810K|KIAA1217_uc001irz.3_Missense_Mutation_p.E810K|KIAA1217_uc001irx.3_Missense_Mutation_p.E810K|KIAA1217_uc001iry.3_Missense_Mutation_p.E810K	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1127					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGAGGAAGAAGAAGAAGAAGG	0.552000														60			15		0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436710	56436710	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:56436710C>T	uc003xsf.3	+	2	1909	c.1877C>T	c.(1876-1878)tCc>tTc	p.S626F		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	626						integral to membrane		p.C625Y(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TTTGAATGTTCCCCATCTCCT	0.453000														55			24		0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40345098	40345098	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:40345098A>G	uc010skm.2	-	3	1046	c.995T>C	c.(994-996)cTa>cCa	p.L332P	SLC2A13_uc001rmf.3_Missense_Mutation_p.L332P	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	332						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GAACATTTGTAGGCCACAACC	0.373000										HNSCC(50;0.14)				65			8		0	0	1	0	0
TICAM1	148022	broad.mit.edu	37	19	4817311	4817311	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4817311G>A	uc002mbi.3	-	1	1330	c.1079C>T	c.(1078-1080)cCt>cTt	p.P360L	TICAM1_uc021unj.1_Missense_Mutation_p.P360L	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	360	Pro-rich.				I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB 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 kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		aggaggaggaggGGATGTTTC	0.542000														71			21		0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800898	21800898	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:21800898C>T	uc002zur.4	+	2	1944	c.1714C>T	c.(1714-1716)Cgt>Tgt	p.R572C	HIC2_uc002zus.4_Missense_Mutation_p.R572C	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	572					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GCGCTTCACCCGTCAGTACCG	0.627000														56			13		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103173923	103173923	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:103173923C>T	uc001phn.1	+	76	11362	c.11218C>T	c.(11218-11220)Cct>Tct	p.P3740S	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.P3733S	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3733	AAA 6 (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)		GGGTGCTGATCCTTCTCAGGA	0.413000														46			14		0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52604519	52604519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:52604519C>T	uc001vgb.3	+	1	2141	c.1579C>T	c.(1579-1581)Ccc>Tcc	p.P527S	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Missense_Mutation_p.P527S	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	527					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TAAGGAGCTTCCCAGACCTGT	0.468000														138			71		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179718276	179718276	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179718276C>T	uc002une.2	-	19	3254	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K	CCDC141_uc002unf.1_Missense_Mutation_p.E525K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	471							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCACAGCTTCCTTTGTCTTG	0.423000														80			33		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14792844	14792844	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:14792844G>A	uc001rcd.3	-	18	2246	c.2109C>T	c.(2107-2109)ccC>ccT	p.P703P		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	703	Protein kinase.				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						CTGGGCGGAAGGGTTTCATTC	0.368000														125			7		0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723492	48723492	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48723492G>A	uc001rrm.3	+	0	730	c.418G>A	c.(418-420)Ggc>Agc	p.G140S		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	140	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GCAAGAGGAGGGCACGCGCGC	0.726000														16			5		0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77945045	77945045	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:77945045C>T	uc001xtz.3	-	4	1061	c.987G>A	c.(985-987)caG>caA	p.Q329Q	ISM2_uc001xua.3_Missense_Mutation_p.R214K|ISM2_uc001xty.3_Silent_p.Q241Q	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	329	TSP type-1.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TCCACTCCTTCTGAGGCTCAT	0.582000														47			24		0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36492232	36492232	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:36492232G>A	uc003omg.3	-	2	780	c.192C>T	c.(190-192)ctC>ctT	p.L64L	STK38_uc003omh.3_Silent_p.L64L|STK38_uc003omi.3_Silent_p.L64L	NM_007271	NP_009202	Q15208	STK38_HUMAN	Homo sapiens serine/threonine kinase 38 (STK38), mRNA.	64	Interaction with S100B.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	MLL5-L complex|cytoplasm	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGATCTCCGGAGTCGTTTCT	0.393000														72			28		0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36169514	36169514	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:36169514C>T	uc003zzb.4	+	0	126	c.15C>T	c.(13-15)ttC>ttT	p.F5F		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	5					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			AATTGGAATTCACGGAGAAAA	0.493000														40			12		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72267089	72267089	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:72267089C>T	uc003xyu.3	-	2	692	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	EYA1_uc003xyt.4_Intron|EYA1_uc003xyr.4_Missense_Mutation_p.E18K|EYA1_uc010lzf.3_5'UTR|EYA1_uc003xys.4_Missense_Mutation_p.E18K|EYA1_uc011lfe.2_Missense_Mutation_p.E18K|EYA1_uc003xyv.3_5'UTR	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	18					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGGGGGATTCACTACTACCA	0.453000														132			50		0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925636	27925636	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:27925636C>T	uc011dkx.2	+	0	618	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGAGCTCTTCCATCTAATAC	0.423000														206			63		0	0	1	0	0
EIF2C1	26523	broad.mit.edu	37	1	36381037	36381037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:36381037C>T	uc001bzl.3	+	14	2135	c.1922C>T	c.(1921-1923)tCc>tTc	p.S641F	EIF2C1_uc001bzk.3_Missense_Mutation_p.S566F|EIF2C1_uc009vuy.3_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	641	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAGACTTGTCCTACATGGTG	0.547000														97			31		0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60558971	60558971	+	Missense_Mutation	SNP	G	A	A	rs141490536	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:60558971G>A	uc001jki.1	+	11	1684	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K	BICC1_uc001jkj.1_Missense_Mutation_p.E203K	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	562					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TATGCAGACCGAAGGCAAAAA	0.468000														23			7		0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154841789	154841789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154841789C>T	uc021pah.1	-	0	966	c.652G>A	c.(652-654)Gag>Aag	p.E218K	KCNN3_uc001ffp.3_Missense_Mutation_p.E218K|KCNN3_uc009wox.1_Missense_Mutation_p.E218K	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	223						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ATGACGATCTCCGGGGGGTTG	0.652000														58			31		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81242165	81242165	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:81242165C>T	uc002fgh.1	-	3	691	c.691G>A	c.(691-693)Gag>Aag	p.E231K	PKD1L2_uc002fgj.3_Missense_Mutation_p.E231K	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	231	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGTAGGTCTCATCTGCTGCC	0.557000														70			9		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41084153	41084153	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:41084153C>T	uc004dfb.3	+	39	7543	c.6910C>T	c.(6910-6912)Cgt>Tgt	p.R2304C	USP9X_uc004dfc.3_Missense_Mutation_p.R2304C	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	2304					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						CAAATTGCTTCGTTTTTGCTG	0.363000														85			21		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10545978	10545978	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10545978G>A	uc002gmq.2	-	15	1732	c.1644C>T	c.(1642-1644)tcC>tcT	p.S548S		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	548	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGTTCTTGAAGGAGGTGTCTG	0.512000														79			47		0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91844621	91844621	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:91844621G>A	uc001doa.4	-	9	1257	c.1158_splice	c.e9+1	p.P386_splice	HFM1_uc010osu.2_Splice_Site_p.P65_splice|HFM1_uc010osv.1_Splice_Site_p.P70_splice|HFM1_uc001doc.1_Splice_Site_p.P386_splice	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	386	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AATACCTACTGGAGTTGTCAT	0.264000														27			18		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886707	3886707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:3886707G>A	uc003bpt.4	+	1	1143	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.E128K	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	128						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GCATTTGGAGGAAAATCAGAT	0.418000														67			26		0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155719196	155719196	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155719196G>A	uc003ioo.3	+	2	558	c.385G>A	c.(385-387)Ggg>Agg	p.G129R	RBM46_uc011cim.1_Missense_Mutation_p.G129R|RBM46_uc003iop.1_Missense_Mutation_p.G129R	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	129	RRM 1.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AATTCGACCAGGGAAGTTTAT	0.328000														72			28		0	0	1	0	0
TRBV19	28568	broad.mit.edu	37	7	142326973	142326973	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142326973G>A	uc003vzo.2	+	1	466	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	TRBV5-1_uc011krr.1_Intron|TRBV19_uc022anp.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GGAGAAGAAGGAATCCTTTCC	0.488000														142			32		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112777075	112777075	+	Missense_Mutation	SNP	G	A	A	rs147779020	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:112777075G>A	uc002thk.1	+	15	2287	c.2165G>A	c.(2164-2166)cGa>cAa	p.R722Q	MERTK_uc002thl.1_Missense_Mutation_p.R546Q	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	722	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTTCTTCATCGAGATTTAGCT	0.463000														91			52		0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73161477	73161477	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:73161477G>A	uc003hgk.2	-	18	2654	c.2617C>T	c.(2617-2619)Cgt>Tgt	p.R873C		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	873	TSP type-1 2.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.C872*(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTTTCCTACGGCATCCATAT	0.368000														89			28		0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66433743	66433743	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:66433743C>T	uc003dmx.3	-	14	2168	c.2154G>A	c.(2152-2154)ggG>ggA	p.G718G	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Silent_p.G338G|LRIG1_uc003dmw.3_Silent_p.G384G|LRIG1_uc010hnz.3_Silent_p.G434G|LRIG1_uc010hoa.3_Silent_p.G695G	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	718	Ig-like C2-type 3.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCGGAGGGTTCCCCGTGGCTT	0.607000														82			26		0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160240299	160240299	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:160240299C>T	uc003qsy.1	+	17	1486	c.1447C>T	c.(1447-1449)Ctg>Ttg	p.L483L	PNLDC1_uc003qsx.1_Silent_p.L472L	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	472						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCGGAACATCCTGAAGGAGTA	0.602000														24			17		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75042611	75042611	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75042611G>A	uc001dgg.3	-	12	2405	c.2186C>T	c.(2185-2187)tCa>tTa	p.S729L	CR627203_uc001dgh.3_5'Flank	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	729	Glu-rich.							p.S729S(2)		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						TAATGGCAATGAATCCTTTCC	0.388000														36			13		0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409163	56409163	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56409163G>A	uc001njb.1	-	0	753	c.753C>T	c.(751-753)ctC>ctT	p.L251L	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TGACAGCCATGAGGTAAGAGG	0.458000														71			28		0	0	1	0	0
CAMKK1	84254	broad.mit.edu	37	17	3772812	3772812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3772812G>A	uc002fwv.3	-	14	1572	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	CAMKK1_uc002fwt.3_Missense_Mutation_p.S437L|CAMKK1_uc002fwu.3_Missense_Mutation_p.S437L	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	437					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GAGCCTGACTGAGTTCTTAAC	0.622000														56			18		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189022399	189022399	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:189022399C>T	uc011cle.1	-	2	513	c.291G>A	c.(289-291)gaG>gaA	p.E97E	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Silent_p.E47E|TRIML2_uc011clf.1_Silent_p.E97E	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	47							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)		AATTTTGTTCCTCTTCCTTCC	0.348000														46			16		0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148930248	148930248	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:148930248C>T	uc003ewy.4	-	1	637	c.384G>A	c.(382-384)aaG>aaA	p.K128K	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewz.3_Silent_p.K128K	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	128	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCTCATGTTCCTTATAGTAAG	0.373000														73			9		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18436239	18436239	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:18436239G>A	uc003cbh.3	-	6	2656	c.921C>T	c.(919-921)ctC>ctT	p.L307L	SATB1_uc003cbi.3_Silent_p.L307L|SATB1_uc003cbj.3_Silent_p.L307L	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	307					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						GTGTTGATACGAGCCCAGGGT	0.572000														99			22		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21727167	21727167	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21727167G>A	uc001rfb.3	-	3	844	c.589C>T	c.(589-591)Cct>Tct	p.P197S		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	197					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTGGCAATAGGAAGTTTCCTG	0.418000														84			14		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7289621	7289621	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7289621C>T	uc001qss.3	+	5	1699	c.1161C>T	c.(1159-1161)acC>acT	p.T387T	CLSTN3_uc001qsr.3_Silent_p.T375T	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	375					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACCACTTCACCCTGTCCTTCT	0.587000														47			28		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201023684	201023684	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201023684G>A	uc001gvv.3	-	28	3842	c.3615C>T	c.(3613-3615)ttC>ttT	p.F1205F		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1205					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGAGGCCAGGAAAGTCTGTG	0.597000														22			5		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70931458	70931458	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:70931458G>A	uc021vjc.1	-	3	582	c.317C>T	c.(316-318)tCc>tTc	p.S106F	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.S106F|ADD2_uc002sgz.3_Missense_Mutation_p.S106F|ADD2_uc010fdt.2_Missense_Mutation_p.S106F|ADD2_uc002shc.2_Missense_Mutation_p.S106F|ADD2_uc010fdu.2_Missense_Mutation_p.S122F	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	106					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.S105C(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CATACTCATGGAAGATGTCGG	0.602000														86			24		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209791391	209791391	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:209791391C>T	uc001hhg.3	-	18	3302	c.2912G>A	c.(2911-2913)aGc>aAc	p.S971N	LAMB3_uc009xco.3_Missense_Mutation_p.S971N|LAMB3_uc001hhh.3_Missense_Mutation_p.S971N	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	971	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ATGGGCTCGGCTCCTGGGTGA	0.572000														77			7		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176031	57176031	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57176031G>A	uc010ygn.2	-	1	763	c.536C>T	c.(535-537)tCg>tTg	p.S179L		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGCCAGGTACGAGCCCTGGCT	0.706000														20			9		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22890774	22890774	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22890774C>T	uc002zwf.3	-	4	1401	c.1245G>A	c.(1243-1245)ggG>ggA	p.G415G	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Silent_p.G399G|PRAME_uc010gtr.3_Silent_p.G415G|PRAME_uc002zwg.3_Silent_p.G415G|PRAME_uc002zwh.3_Silent_p.G415G|PRAME_uc002zwi.3_Silent_p.G415G|PRAME_uc002zwj.3_Silent_p.G415G|PRAME_uc002zwk.3_Silent_p.G415G	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	415					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AGATGGAATTCCCGTAGAAGC	0.547000														50			16		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484836	97484836	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:97484836C>T	uc001vmw.3	+	1	824	c.800C>T	c.(799-801)tCt>tTt	p.S267F		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	267						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TGGAAAACCTCTCTTCATATG	0.507000														45			16		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22130333	22130333	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:22130333C>T	uc010vbq.2	+	11	1197	c.1101C>T	c.(1099-1101)acC>acT	p.T367T	VWA3A_uc010bxd.3_5'Flank|VWA3A_uc010bxc.2_Silent_p.T354T	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	367						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGGCGCTCACCTGCACCATGG	0.617000														10			5		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48936095	48936095	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:48936095C>T	uc002rwu.4	-	7	742	c.672G>A	c.(670-672)ccG>ccA	p.P224P	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	224					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ACAAGGTTTTCGGCCCTGTGG	0.547000														121			48		0	0	1	0	0
NDST2	8509	broad.mit.edu	37	10	75567892	75567892	+	Silent	SNP	G	A	A	rs138811491		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:75567892G>A	uc001jvk.2	-	2	1059	c.255C>T	c.(253-255)ccC>ccT	p.P85P	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_5'UTR|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_5'UTR	NM_003635	NP_003626	P52849	NDST2_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA.	85	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CAAGGACCACGGGTTCAGTTC	0.602000														34			20		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580119	82580119	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82580119G>A	uc003uhx.2	-	5	10074	c.9785C>T	c.(9784-9786)tCt>tTt	p.S3262F	PCLO_uc003uhv.2_Missense_Mutation_p.S3262F|PCLO_uc010lec.3_Missense_Mutation_p.S227F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3193					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S3262Y(3)|p.S3193Y(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						TTGCTTCATAGACTGCAGCTC	0.478000														135			13		0	0	1	0	0
CLRN2	645104	broad.mit.edu	37	4	17528621	17528621	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:17528621G>A	uc003gpg.1	+	2	717	c.615G>A	c.(613-615)gtG>gtA	p.V205V		NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN	Homo sapiens clarin 2 (CLRN2), mRNA.	205						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						ACTTGGTCGTGGTGGCGATCA	0.507000														80			30		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106918652	106918652	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106918652C>T	uc001kyi.1	+	10	1859	c.1632C>T	c.(1630-1632)ccC>ccT	p.P544P		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	544						integral to membrane	neuropeptide receptor activity	p.P544P(2)|p.P544T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATTTTAGCCCTTCTGTTCCT	0.478000														72			21		0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41552569	41552569	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:41552569C>T	uc003oql.3	+	3	821	c.363C>T	c.(361-363)atC>atT	p.I121I	FOXP4_uc003oqm.3_Silent_p.I121I|FOXP4_uc003oqn.3_Silent_p.I121I	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	121	Gln-rich.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGCAGCAGATCCTGTCGCCCC	0.662000														22			9		0	0	1	0	0
PRR11	55771	broad.mit.edu	37	17	57270872	57270872	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:57270872C>T	uc002ixf.2	+	4	734	c.422C>T	c.(421-423)tCc>tTc	p.S141F	PRR11_uc021uar.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	Homo sapiens proline rich 11 (PRR11), mRNA.	141										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GAAAGTTCTTCCTGTCCAAGC	0.418000														87			17		0	0	1	0	0
C2orf89	129293	broad.mit.edu	37	2	85051079	85051079	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:85051079C>T	uc010ysl.2	-	5	1421	c.1332G>A	c.(1330-1332)gaG>gaA	p.E444E	C2orf89_uc002sou.4_Silent_p.E395E	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	444						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						CGCCTGACCTCTCCTCCAGGC	0.647000														24			9		0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56742738	56742738	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56742738G>A	uc001slc.3	-	16	1749	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	STAT2_uc001slb.3_Nonsense_Mutation_p.Q58*|STAT2_uc001sld.3_Nonsense_Mutation_p.Q512*|STAT2_uc010sqn.2_3'UTR	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	516					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						ATGCTCAGCTGGTCTGAGTTG	0.552000														67			16		0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42992602	42992602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:42992602C>T	uc021tyh.1	-	0	319	c.253G>A	c.(253-255)Gag>Aag	p.E85K	GFAP_uc002ihq.3_Missense_Mutation_p.E85K|GFAP_uc002ihr.3_Missense_Mutation_p.E85K|GFAP_uc010wjg.2_Non-coding_Transcript	NM_001242376	NP_001229305	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA.	85	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CGAACCTTCTCGATGTAGCTG	0.602000														27			22		0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150878387	150878387	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150878387C>T	uc003wjm.1	-	2	1004	c.743G>A	c.(742-744)gGc>gAc	p.G248D	ASB10_uc003wjl.1_Missense_Mutation_p.G248D|ASB10_uc003wjn.1_Missense_Mutation_p.G233D	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	248					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGGTCCAGCCTTCGGCATT	0.657000														28			10		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164371	150164371	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150164371G>A	uc003whj.3	+	1	915	c.585G>A	c.(583-585)acG>acA	p.T195T		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	195						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)		TGGTGAATACGAACGGAGGAC	0.423000														92			49		0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96581799	96581799	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:96581799G>A	uc002sva.1	-	19		c.881_splice	c.e19-1		ANKRD36C_uc002svc.1_Splice_Site					Homo sapiens cDNA FLJ41632 fis, clone FCBBF1000297, highly similar to Human protein immuno-reactive with anti-PTH polyclonal antibodies mRNA.											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						ATCACTTGTAGCCTGAATGGA	0.308000														9			8		0	0	1	0	0
GDF5OS	554250	broad.mit.edu	37	20	34022007	34022007	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34022007C>T	uc002xcj.3	+	1	493	c.418C>T	c.(418-420)Ccg>Tcg	p.P140S	GDF5_uc010gfc.1_Silent_p.R402R|GDF5_uc002xck.1_Silent_p.R402R					Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds.											cervix(1)|endometrium(4)|lung(4)	9						GCAGTGCCTTCCGACTGCAGC	0.607000														124			39		0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723368	142723368	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142723368G>A	uc003wcc.1	-	0	852	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GAGTAAAGATGAAAGGATTCA	0.438000														85			33		0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271775	59271775	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59271775C>T	uc001noa.1	+	0	727	c.727C>T	c.(727-729)Cac>Tac	p.H243Y		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTGCACCTCCCACATCACTGT	0.552000														216			86		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635294	33635294	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:33635294G>A	uc001uus.3	+	3	2086	c.2078G>A	c.(2077-2079)aGg>aAg	p.R693K	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	693	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.R693S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCGTATACAAGGAATATGACA	0.493000														60			6		0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7707367	7707367	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7707367G>A	uc010xjr.2	+	9	925	c.880G>A	c.(880-882)Gag>Aag	p.E294K	STXBP2_uc002mha.4_Missense_Mutation_p.E283K|STXBP2_uc002mhb.4_Missense_Mutation_p.E280K|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	283					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTTGCTGGACGAGGACGATGA	0.662000														143			56		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55710208	55710208	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55710208G>A	uc002qjq.3	-	7	1566	c.1493C>T	c.(1492-1494)cCc>cTc	p.P498L	PTPRH_uc010esv.3_Missense_Mutation_p.P320L|PTPRH_uc002qjs.2_Missense_Mutation_p.P505L	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	498	Fibronectin type-III 6.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGGGCCCTGGGGAGCTGTCCA	0.592000														34			7		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57730213	57730213	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:57730213G>A	uc010bfw.3	+	2	209	c.16G>A	c.(16-18)Ggt>Agt	p.G6S	CGNL1_uc002aeg.3_Missense_Mutation_p.G6S	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	6	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCTGTATTTCGGTGAATATCA	0.443000														278			141		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11177099	11177099	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11177099G>A	uc001asd.3	-	49	7099	c.6978C>T	c.(6976-6978)gtC>gtT	p.V2326V	MTOR_uc001asc.3_Silent_p.V531V	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2326	PI3K/PI4K.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCATTGACATGACCGCTAAAG	0.378000														116			49		0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67915583	67915583	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67915583C>T	uc002eur.3	+	21	3078	c.2839C>T	c.(2839-2841)Cct>Tct	p.P947S	EDC4_uc010cer.3_Missense_Mutation_p.P566S|EDC4_uc002eus.3_Missense_Mutation_p.P677S|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	947					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGCAGAGCCCCCTGAGGACTG	0.607000														40			14		0	0	1	0	0
APOA5	116519	broad.mit.edu	37	11	116661443	116661443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:116661443C>T	uc009yzg.3	-	1	1012	c.580G>A	c.(580-582)Gag>Aag	p.E194K	ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Missense_Mutation_p.E168K|APOA5_uc009yzf.3_Missense_Mutation_p.E168K			Q6Q788	APOA5_HUMAN	Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.	168					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	p.Y194H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GCCCAAGCCTCGTCCACGCCC	0.667000														53			20		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87045045	87045045	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:87045045G>A	uc009wcs.3	+	12	2175	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	CLCA4_uc009wct.3_Missense_Mutation_p.E474K|CLCA4_uc009wcu.3_Missense_Mutation_p.E531K	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	711						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			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)		AGGGGAAATTGAAGCAAACCC	0.413000														48			27		0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37689061	37689061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:37689061C>T	uc003xkj.3	+	7	1439	c.1053C>T	c.(1051-1053)tcC>tcT	p.S351S	GPR124_uc010lvy.3_Silent_p.S351S	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	351					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCTCTGCCTCCTACTGCCCCG	0.662000														31			12		0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223272	44223272	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44223272G>A	uc002oxh.3	+	1	709	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	IRGC_uc021uvh.1_Missense_Mutation_p.A188T	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	188						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTTCAGAGAGGCCGCTGTCCT	0.672000														42			16		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126400967	126400967	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126400967C>T	uc003ifj.4	+	13	12545	c.12545C>T	c.(12544-12546)tCa>tTa	p.S4182L	FAT4_uc011cgp.2_Intron|FAT4_uc003ifi.1_Missense_Mutation_p.S1660L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4182	EGF-like 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATTACTGGTCATGGCAGCAG	0.428000														34			17		0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241569725	241569726	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241569725_241569726GG>AA	uc010fzi.2	+	5	1321_1322	c.449_450GG>AA	c.(448-450)cgg>cAA	p.R150Q	GPR35_uc010fzh.2_Missense_Mutation_p.R150Q|GPR35_uc021vze.1_Missense_Mutation_p.R119Q|GPR35_uc002vzs.2_Missense_Mutation_p.R119Q	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	119						integral to plasma membrane	G-protein coupled receptor activity	p.A150T(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GTGGCCGTGCGGCACCCGCTGC	0.708000														25			9		0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101765653	101765653	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:101765653C>T	uc001pgl.3	-	7	1400	c.804G>A	c.(802-804)acG>acA	p.T268T		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	268	Fibrinogen C-terminal.				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)		TAAAAAATCTCGTTTCATCCT	0.313000														55			20		0	0	1	0	0
DPYSL3	1809	broad.mit.edu	37	5	146780333	146780333	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:146780333C>T	uc003loo.3	-	9	1572	c.1374G>A	c.(1372-1374)ggG>ggA	p.G458G	DPYSL3_uc003lon.1_Silent_p.G344G	NM_001197294	NP_001184223	Q14195	DPYL3_HUMAN	Homo sapiens dihydropyrimidinase-like 3 (DPYSL3), transcript variant 1, mRNA.	344					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTGTCCTTCCCAATTGCTT	0.557000														55			20		0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121944316	121944316	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:121944316C>T	uc003vkd.3	-	0	250	c.176G>A	c.(175-177)gGg>gAg	p.G59E	FEZF1_uc003vkc.3_Missense_Mutation_p.G59E|LOC154860_uc010lko.2_Non-coding_Transcript	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	59					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CTTGGGTTCCCCCTTGGGTAA	0.617000														109			36		0	0	1	0	0
CA4	762	broad.mit.edu	37	17	58234891	58234891	+	Silent	SNP	G	A	A	rs145588553	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:58234891G>A	uc002iym.4	+	3	466	c.372G>A	c.(370-372)aaG>aaA	p.K124K	CA4_uc010wou.2_Intron	NM_000717	NP_000708	P22748	CAH4_HUMAN	Homo sapiens carbonic anhydrase IV (CA4), mRNA.	124					bicarbonate transport|one-carbon metabolic process	ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding	p.K124*(1)		kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TGCCATATAAGGGCTCGGAGC	0.612000														170			42		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133948017	133948017	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133948017G>A	uc003ytw.3	+	24	4990	c.4949G>A	c.(4948-4950)gGg>gAg	p.G1650E	TG_uc010mdw.3_Missense_Mutation_p.G409E|TG_uc011ljb.2_Missense_Mutation_p.G83E	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1650					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GATGCACTGGGGAACTCAAAG	0.448000														43			15		0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71487187	71487187	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71487187G>A	uc002faf.3	-	4	915	c.101C>T	c.(100-102)tCt>tTt	p.S34F	ZNF23_uc002fah.3_Missense_Mutation_p.S34F|ZNF23_uc002fad.3_5'UTR|ZNF23_uc010vmf.2_Intron|ZNF23_uc002fag.3_5'UTR|ZNF23_uc002fai.3_Missense_Mutation_p.S72F	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AGCCAGTGGAGATGAGCCCCC	0.517000														13			3		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47765403	47765403	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47765403C>T	uc003gxm.3	-	3	703	c.610G>A	c.(610-612)Gat>Aat	p.D204N	CORIN_uc011bzf.2_Missense_Mutation_p.D65N|CORIN_uc011bzg.2_Missense_Mutation_p.D137N|CORIN_uc011bzh.1_Missense_Mutation_p.D204N|CORIN_uc011bzi.1_Missense_Mutation_p.D204N|CORIN_uc003gxn.4_Missense_Mutation_p.D204N	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	204	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TACCTGTCATCGCCATCAATG	0.413000														17			6		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43246125	43246125	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:43246125G>A	uc002lbe.3	+	11	2314	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K	SLC14A2_uc010dnj.3_Missense_Mutation_p.E500K	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	500						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGAACACCAGGAAAGACAAAA	0.507000											OREG0024946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			25		0	0	1	0	0
PPIL3	53938	broad.mit.edu	37	2	201746149	201746149	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:201746149G>A	uc021vut.1	-	3	445	c.235C>T	c.(235-237)Ctt>Ttt	p.L79F	PPIL3_uc002uwi.3_Missense_Mutation_p.L83F|PPIL3_uc002uwh.3_Missense_Mutation_p.L79F|PPIL3_uc002uwj.3_Silent_p.I47I	NM_130906	NP_570981	Q9H2H8	PPIL3_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 3 (PPIL3), transcript variant PPIL3b, mRNA.	79	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(1)|lung(2)	3						TTTACCTTAAGATATTCACTG	0.338000														37			20		0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30507699	30507699	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30507699C>T	uc010gdx.1	+	6	790	c.537C>T	c.(535-537)ctC>ctT	p.L179L	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_Intron|TTLL9_uc010ztq.1_Non-coding_Transcript	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	179	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCATCTTCCTCTTCCGTAGGC	0.622000														62			35		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147259245	147259245	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:147259245C>T	uc003weu.2	+	11	2309	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	598	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TACGAGCCTTCCTGTGAAGCC	0.448000										HNSCC(39;0.1)				72			10		0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544019	154544019	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154544019C>T	uc001ffg.3	+	4	984	c.720C>T	c.(718-720)aaC>aaT	p.N240N		NM_000748	NP_000739	P17787	ACHB2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 2 (neuronal) (CHRNB2), mRNA.	240					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ACACCATCAACCTCATCATCC	0.572000														125			51		0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626504	49626504	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:49626504G>A	uc002xwa.4	-	1	667	c.372C>T	c.(370-372)ttC>ttT	p.F124F	KCNG1_uc002xwb.3_Silent_p.F124F	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	124						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGATAGTGCCGAAGGCCCCCG	0.632000														66			13		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103307750	103307750	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:103307750G>A	uc003ykr.2	-	29	4278	c.3823C>T	c.(3823-3825)Ctc>Ttc	p.L1275F	UBR5_uc003yks.2_Missense_Mutation_p.L1275F	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1275					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATAGTAAGAGGTGCTCTCCC	0.473000														74			37		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33141495	33141495	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33141495C>T	uc003ocx.1	-	34	2839	c.2611G>A	c.(2611-2613)Ggg>Agg	p.G871R	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G785R|COL11A2_uc003ocz.1_Missense_Mutation_p.G764R	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	871	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCAGGGGGCCCATGGGGGCCA	0.627000														19			10		0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113058976	113058976	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:113058976G>A	uc001ecb.3	+	2	1133	c.618G>A	c.(616-618)aaG>aaA	p.K206K	WNT2B_uc001eca.3_Silent_p.K187K|WNT2B_uc009wgg.3_Silent_p.K114K	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA.	206					Wnt receptor signaling pathway, calcium modulating pathway|chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGATGCCAAGGAGAAGAGGC	0.537000														86			6		0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37680644	37680644	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:37680644G>A	uc002ofq.3	-	3	463	c.211C>T	c.(211-213)Cct>Tct	p.P71S	ZNF585B_uc002ofr.1_5'UTR	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	71	KRAB.				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)			TCTGGTTTAGGAACTTGATAC	0.478000														63			28		0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840921	142840921	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:142840921G>A	uc003evm.3	+	1	2202	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L	CHST2_uc021xex.1_Silent_p.L421L	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	421					N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GCCACTACCTGGTGGTGCGGT	0.587000														59			7		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71418430	71418430	+	Missense_Mutation	SNP	C	T	T	rs140473608	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:71418430C>T	uc010dfm.3	-	14	2041	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K	SDK2_uc010dfn.2_Missense_Mutation_p.E360K	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	681	Fibronectin type-III 1.				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						CCTCACCTCTCGGTGTCTTTG	0.607000														48			23		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537224	5537225	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5537224_5537225GG>AA	uc001maz.4	-	0	732_733	c.447_448CC>TT	c.(445-450)gcccac>gcTTac	p.H150Y	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	150										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CCCACAAAGTGGGCCAGTTCCA	0.530000														94			9		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103321104	103321104	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103321104G>A	uc002tca.3	+	9	2089	c.1947G>A	c.(1945-1947)agG>agA	p.R649R		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	649						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AAAGCATTAGGAAGGACAGCA	0.512000														61			23		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962516	73962516	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73962516G>A	uc004eby.3	-	2	2493	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	626					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	p.A625V(1)		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						TTTCGTTTGCGAGCAGGTGGC	0.413000														10			13		0	0	1	0	0
HAPLN4	404037	broad.mit.edu	37	19	19372292	19372292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19372292C>T	uc002nmb.3	-	1	194	c.84G>A	c.(82-84)ggG>ggA	p.G28G	HAPLN4_uc002nmc.3_Silent_p.G28G	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 4 (HAPLN4), mRNA.	28					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			CACGCTGCGCCCCCGCAGGGG	0.726000														51			8		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610124	47610124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47610124C>T	uc001cqv.1	+	6	937	c.886C>T	c.(886-888)Ctc>Ttc	p.L296F	CYP4A22_uc009vyo.3_Missense_Mutation_p.L296F|CYP4A22_uc009vyp.3_Missense_Mutation_p.P244L	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	296						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGACATCCTCCTCTTGGCCAA	0.507000														103			35		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38357943	38357943	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38357943C>T	uc003cib.2	+	8	1734	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	SLC22A14_uc010hhc.1_Missense_Mutation_p.S554F|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	554						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GTGGCCTTTTCCCTCTCCTCC	0.612000														37			17		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587768	55587768	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55587768C>T	uc010rin.2	+	0	663	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A220V(2)|p.A220A(1)|p.A220S(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTTATGCGTTCATTGTTGTAA	0.478000														87			25		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182171	140182171	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140182171C>T	uc003lhf.2	+	0	1389	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.F463F	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	477	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)			ACACGGTGTTCGTGAAGGAGA	0.662000														153			19		0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150648860	150648860	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150648860G>A	uc003wic.3	-	6	2022	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C	KCNH2_uc003wib.3_Missense_Mutation_p.R201C|KCNH2_uc011kux.2_Missense_Mutation_p.R445C|KCNH2_uc003wid.3_Missense_Mutation_p.R201C|KCNH2_uc003wie.3_Missense_Mutation_p.R541C	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	541					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TCTGAGTAGCGATCCAGCTTC	0.642000														32			7		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1684132	1684132	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1684132C>T	uc002qxa.3	-	6	627	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	PXDN_uc002qxb.1_Missense_Mutation_p.R188Q|PXDN_uc002qxc.1_Missense_Mutation_p.R5Q	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	188					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGAGTCCAGTCGCCTGTGGGA	0.592000														32			16		0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35400426	35400426	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35400426C>T	uc003zwr.3	+	35	4515	c.4223C>T	c.(4222-4224)tCg>tTg	p.S1408L	UNC13B_uc003zwq.3_Missense_Mutation_p.S1408L	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	1408					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity	p.S1408*(2)|p.R1407C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TTTGTGCGCTCGCAGACCACC	0.527000														121			70		0	0	1	0	0
PAPD4	167153	broad.mit.edu	37	5	78915544	78915544	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:78915544C>T	uc010jae.1	+	2	491	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	PAPD4_uc003kgb.2_Silent_p.L25L|PAPD4_uc010jaf.1_Silent_p.L25L|PAPD4_uc003kga.2_Silent_p.L25L|PAPD4_uc003kfz.2_Silent_p.L25L	NM_001114393	NP_776158	Q6PIY7	GLD2_HUMAN	Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA.	25					RNA polyadenylation|histone mRNA catabolic process|mRNA processing	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		CTTCTTTACCCTGTCACCTAC	0.408000														79			27		0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155486985	155486985	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155486985G>A	uc003ioa.4	+	1	179	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	FGB_uc010ipu.1_Non-coding_Transcript|FGB_uc010ipv.3_Missense_Mutation_p.R47Q	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	47	Beta-chain polymerization, binding distal domain of another fibrin.		Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CGTGGTCATCGACCCCTTGAC	0.522000														56			7		0	0	1	0	0
NCALD	83988	broad.mit.edu	37	8	102731543	102731543	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:102731543G>A	uc003yke.3	-	1	684	c.315C>T	c.(313-315)ttC>ttT	p.F105F	NCALD_uc003ykf.3_Silent_p.F105F|NCALD_uc003ykg.3_Silent_p.F105F|NCALD_uc003ykh.3_Silent_p.F105F|NCALD_uc003yki.3_Silent_p.F105F|NCALD_uc003ykj.3_Silent_p.F105F|NCALD_uc003ykk.3_Silent_p.F105F|NCALD_uc003ykl.3_Silent_p.F105F	NM_032041	NP_114430	P61601	NCALD_HUMAN	Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA.	105	EF-hand 3.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CGTACATGCTGAAGGCCCATT	0.478000														134			47		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196718101	196718101	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196718101G>A	uc002utj.4	-	45	8848	c.8747C>T	c.(8746-8748)gCt>gTt	p.A2916V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2916					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCGAGGTAAGCAACCACTCC	0.507000														59			6		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8404586	8404586	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:8404586C>T	uc003zkk.3	-	35	4904	c.4161G>A	c.(4159-4161)gcG>gcA	p.A1387A	PTPRD_uc003zkp.3_Silent_p.A981A|PTPRD_uc003zkq.3_Silent_p.A980A|PTPRD_uc003zkr.3_Silent_p.A971A|PTPRD_uc003zks.3_Silent_p.A980A|PTPRD_uc022bdj.1_Silent_p.A977A	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1387	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A1387T(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CGATTACATTCGCGTATCTAT	0.378000										TSP Lung(15;0.13)				42			13		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19544092	19544092	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:19544092C>T	uc003jgd.3	-	8	1810	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	CDH18_uc011cnm.2_Missense_Mutation_p.E426K|CDH18_uc003jgc.3_Missense_Mutation_p.E426K|CDH18_uc021xwu.1_Missense_Mutation_p.E426K	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	426	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTGTCGTCTTCAACATTGTAG	0.343000														33			26		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24255255	24255255	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24255255C>T	uc003xdz.2	+	6	907	c.687C>T	c.(685-687)gcC>gcT	p.A229A	ADAMDEC1_uc010lub.2_Silent_p.A150A|ADAMDEC1_uc011lab.1_Silent_p.A150A	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	229	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TGGATAATGCCTTTGTGAGTA	0.353000														65			8		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10942968	10942968	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:10942968G>A	uc002yip.1	-	11	987	c.619C>T	c.(619-621)Cat>Tat	p.H207Y	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.H189Y|TPTE_uc002yir.1_Missense_Mutation_p.H169Y|TPTE_uc010gkv.1_Missense_Mutation_p.H69Y	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	207					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		TGAAACAGATGAAAAATTCTT	0.308000														74			7		0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187131739	187131739	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187131739C>T	uc003iyw.4	+	10	1826	c.1522C>T	c.(1522-1524)Cgt>Tgt	p.R508C	CYP4V2_uc010ism.3_Non-coding_Transcript	NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.	508			R -> H (in BCD).		response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GTTGATTCTTCGTCCAAGTAA	0.403000														76			22		0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39510025	39510025	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:39510025G>A	uc001wup.1	-	17	2276	c.2053C>T	c.(2053-2055)Ctg>Ttg	p.L685L	SEC23A_uc010tqa.1_Silent_p.L571L|SEC23A_uc010tqb.1_Silent_p.L656L	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	685					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	p.L685L(1)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GGGGCTTGCAGAAGGTGGCGG	0.418000														89			22		0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49062078	49062078	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:49062078C>T	uc004dnb.3	-	46	5763	c.5701G>A	c.(5701-5703)Gct>Act	p.A1901T	CACNA1F_uc010nip.3_Missense_Mutation_p.A1890T	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1901					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)	GGACTCACAGCCTCCACCAAG	0.622000														8			4		0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25671518	25671518	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25671518C>T	uc001upy.3	+	0	1243	c.1182C>T	c.(1180-1182)aaC>aaT	p.N394N		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	394					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTGTGCCCAACCAGCGAGCAC	0.498000														95			35		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63044633	63044633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:63044633G>A	uc001daq.3	-	16	1910	c.1876C>T	c.(1876-1878)Cct>Tct	p.P626S	DOCK7_uc001dan.3_Missense_Mutation_p.P518S|DOCK7_uc001dao.3_Missense_Mutation_p.P518S|DOCK7_uc001dap.3_Missense_Mutation_p.P626S	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	626	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TGAAAATCAGGAGACCTTCAT	0.254000														66			30		0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149263075	149263075	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149263075G>A	uc003lrg.4	-	16	2172	c.2052C>T	c.(2050-2052)atC>atT	p.I684I	PDE6A_uc021yfs.1_Silent_p.I603I	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	684					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACTGATCCACGATCTTTTGGA	0.448000														41			17		0	0	1	0	0
BHLHE22	27319	broad.mit.edu	37	8	65493764	65493764	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:65493764C>T	uc003xvi.3	+	0	970	c.417C>T	c.(415-417)gcC>gcT	p.A139A	LOC401463_uc003xvh.3_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.	139	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GCTCGGTGGCCGAGAGCAGCG	0.751000														3			4		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55496418	55496418	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55496418C>T	uc021vbq.1	+	6	2145	c.2034C>T	c.(2032-2034)tcC>tcT	p.S678S	NLRP2_uc010yfp.2_Silent_p.S655S|NLRP2_uc002qij.3_Silent_p.S678S|NLRP2_uc010esp.3_Silent_p.S656S|NLRP2_uc010esn.3_Silent_p.S654S|NLRP2_uc010eso.3_Silent_p.S675S	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	678					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CCTATAGATCCCAGGATGATC	0.433000														99			46		0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572226	53572226	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53572226G>A	uc010eqk.3	-	6	1977	c.1561C>T	c.(1561-1563)Cgt>Tgt	p.R521C	ZNF160_uc002qaq.4_Missense_Mutation_p.R521C|ZNF160_uc002qar.4_Missense_Mutation_p.R521C	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	521					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R521C(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AGACTTGAACGAACACTGAAG	0.398000														148			16		0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17652952	17652952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17652952C>T	uc021uqj.1	+	10	1409	c.1271C>T	c.(1270-1272)tCa>tTa	p.S424L	FAM129C_uc021uqi.1_Missense_Mutation_p.S424L|FAM129C_uc002ngy.4_Missense_Mutation_p.S150L|FAM129C_uc010xpu.2_Missense_Mutation_p.S150L|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_Missense_Mutation_p.S150L|FAM129C_uc002nhb.3_Missense_Mutation_p.S23L	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	424										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CAGGTTTACTCATTTGGGGAG	0.587000														121			70		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60911420	60911420	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:60911420G>A	uc002ycq.3	-	17	2366	c.2299C>T	c.(2299-2301)Ccc>Tcc	p.P767S	LAMA5_uc021wfw.1_Missense_Mutation_p.P767S	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	767	Laminin EGF-like 9.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGTTGCTGGGGCTCAGTCCC	0.622000														62			23		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8418518	8418518	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:8418518G>A	uc001ape.3	-	20	4887	c.4077C>T	c.(4075-4077)gcC>gcT	p.A1359A	RERE_uc001apf.3_Silent_p.A1359A|RERE_uc001apd.3_Silent_p.A805A	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1359					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGTGGGGCCCGGCGGTCGGGG	0.701000														15			4		0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29797602	29797602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29797602C>T	uc003nnw.2	+	5	1083	c.905C>T	c.(904-906)tCc>tTc	p.S302F	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Missense_Mutation_p.S274F|HLA-G_uc003raj.3_Missense_Mutation_p.S307F|HLA-G_uc003nnz.3_Missense_Mutation_p.S210F|HLA-G_uc010jrn.2_Missense_Mutation_p.S118F|HLA-G_uc003nny.3_Non-coding_Transcript|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_Non-coding_Transcript	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	302	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity	p.S301Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GAGCAGTCTTCCCTGCCCACC	0.582000														101			11		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130504133	130504133	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130504133C>T	uc004bsc.3	-	8	2164	c.2022G>A	c.(2020-2022)gaG>gaA	p.E674E	SH2D3C_uc010mxo.3_Silent_p.E514E|SH2D3C_uc004bry.3_Silent_p.E516E|SH2D3C_uc004brz.4_Silent_p.E320E|SH2D3C_uc011mak.2_Silent_p.E320E|SH2D3C_uc004bsb.3_Silent_p.E606E|SH2D3C_uc004bsa.3_Silent_p.E517E	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	674	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCCCCCGCAGCTCGGCCGCCA	0.662000														42			27		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755243	140755243	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140755243G>A	uc003ljy.2	+	0	1593	c.1593G>A	c.(1591-1593)tgG>tgA	p.W531*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Nonsense_Mutation_p.W531*	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	533	Cadherin 5.				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)			TACAGCTGTGGGTGACAGCCA	0.597000														228			65		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16021577	16021577	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:16021577G>A	uc010lsu.3	-	4	932	c.868C>T	c.(868-870)Caa>Taa	p.Q290*	MSR1_uc003wwz.3_Nonsense_Mutation_p.Q272*|MSR1_uc003wxa.3_Nonsense_Mutation_p.Q272*|MSR1_uc003wxb.3_Nonsense_Mutation_p.Q272*|MSR1_uc011kxz.2_Nonsense_Mutation_p.Q46*	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	272	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.E289Q(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTTTACCTTGAATTAAAGTG	0.294000														33			15		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153049	105153049	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:105153049G>A	uc004emd.3	+	12	1719	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R	NRK_uc010npc.1_Silent_p.R140R	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	472	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CACGACTACGGAGGGCAGCCA	0.562000										HNSCC(51;0.14)				18			11		0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281491	125281491	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125281491G>A	uc011lyw.2	+	0	72	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q24H(2)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CAGAGCAGCAGGCTGTGTTCT	0.557000														128			28		0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113802129	113802129	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113802129G>A	uc001pok.3	+	2	375	c.237G>A	c.(235-237)aaG>aaA	p.K79K	HTR3B_uc001pol.3_Silent_p.K68K	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	79					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		AAATATTAAAGACAAGTGTAT	0.318000														37			15		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220472776	220472776	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220472776C>T	uc002vml.3	+	13	1303	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	STK11IP_uc010zll.2_Silent_p.F377F|STK11IP_uc002vmm.1_Silent_p.F409F	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	420					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGGATGGTTCGTGCAGCAGC	0.627000														30			24		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117853292	117853292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117853292C>T	uc004bjj.4	-	1	418	c.6G>A	c.(4-6)ggG>ggA	p.G2G	TNC_uc010mvf.3_Silent_p.G2G|TNC_uc022bmj.1_Silent_p.G2G	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	2					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GAGTCATGGCCCCCATGGTGG	0.557000														18			21		0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27460569	27460569	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:27460569C>T	uc002dor.2	+	9	2196	c.1648C>T	c.(1648-1650)Ccg>Tcg	p.P550S	IL21R_uc002doq.2_Missense_Mutation_p.P528S|IL21R_uc002dos.2_Missense_Mutation_p.P528S|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	528					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGTCATTCCTCCGCCACTTTC	0.652000			T	BCL6	NHL									49			14		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4836859	4836859	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:4836859G>A	uc003bqc.3	+	51	7224	c.6874G>A	c.(6874-6876)Gga>Aga	p.G2292R	ITPR1_uc021wsi.1_Missense_Mutation_p.G2259R|ITPR1_uc021wsj.1_Missense_Mutation_p.G2244R|ITPR1_uc011asu.2_Intron|ITPR1_uc010hcc.2_Missense_Mutation_p.G27R	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2307					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CCCGTTTAAGGGAGTCCGAGG	0.483000														28			10		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47219479	47219479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:47219479G>A	uc002ion.2	+	2	537	c.478G>A	c.(478-480)Gac>Aac	p.D160N	B4GALNT2_uc010wlt.1_Missense_Mutation_p.D74N|B4GALNT2_uc010wlu.1_Missense_Mutation_p.D100N	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	160					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGGCCAGAGCGACCTCCCAGC	0.498000														100			38		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23225854	23225854	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:23225854G>A	uc003xdh.1	-	1	350	c.11C>T	c.(10-12)cCt>cTt	p.P4L		NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	4					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GGAGCACAGAGGCCTCTCCAT	0.637000														31			22		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25008807	25008807	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25008807G>A	uc001upl.3	-	30	4578	c.4472C>T	c.(4471-4473)tCc>tTc	p.S1491F		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1491					DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GGTAGTCCGGGACTGACTGCA	0.488000														68			6		0	0	1	0	0
L32131	0	broad.mit.edu	37	17	58512655	58512655	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:58512655C>T	uc002iyr.1	-	0		c.703G>A								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		ACCTTCTCTCCCTTCTTTGCA	0.498000														43			14		0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4135832	4135832	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:4135832G>A	uc003mwf.3	-	1	1	c.-36_splice	c.e1-1		ECI2_uc021yku.1_5'Flank|ECI2_uc003mwc.3_Splice_Site|ECI2_uc003mwd.3_Splice_Site|ECI2_uc003mwe.3_Splice_Site|ECI2_uc010jnr.1_5'Flank|AK092451_uc003mwg.1_5'Flank	NM_206836	NP_996667	O75521	ECI2_HUMAN	Homo sapiens enoyl-CoA delta isomerase 2 (ECI2), transcript variant 2, mRNA.						fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						GCTCGGGGGTGGGGCCGGGTC	0.751000														15			5		0	0	1	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134472027	134472027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:134472027G>A	uc003yuk.2	-	9	1832	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	ST3GAL1_uc003yum.2_Missense_Mutation_p.R335W	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA.	335					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	p.R335R(1)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			TTGAAGATCCGGATTTTATTG	0.572000														113			8		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580800	140580800	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140580800C>T	uc003liy.3	+	0	1453	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	485	Cadherin 5.				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)			CACCAACGCCCAGGTCAACTA	0.632000														202			75		0	0	1	0	0
C1orf201	90529	broad.mit.edu	37	1	24696301	24696301	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24696301C>T	uc001bjc.3	-	6	767	c.600G>A	c.(598-600)gtG>gtA	p.V200V	C1orf201_uc010oej.2_Silent_p.V28V|C1orf201_uc001bjb.3_Silent_p.V108V|C1orf201_uc001bja.3_Silent_p.V153V|C1orf201_uc001bjd.3_Silent_p.V200V|C1orf201_uc001bjf.3_Silent_p.V68V	NM_001199013	NP_001185942	Q5TH74	CA201_HUMAN	Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA.	200										breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	15		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)		GCGACTGCTTCACAAGGGATT	0.393000														118			13		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2161844	2161844	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:2161844C>T	uc003zhc.3	+	27	4239	c.4140C>T	c.(4138-4140)ccC>ccT	p.P1380P	SMARCA2_uc003zhd.3_Silent_p.P1380P|SMARCA2_uc010mha.3_Silent_p.P1313P|SMARCA2_uc011llw.2_Silent_p.P84P|SMARCA2_uc011llx.2_Silent_p.P44P|SMARCA2_uc003zhe.3_Silent_p.P86P|SMARCA2_uc010mhb.3_Silent_p.P68P	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1380					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CACCAAATCCCCCCAAACTGA	0.438000														28			15		0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24546362	24546362	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24546362G>A	uc010tnv.2	+	16	1611	c.1465_splice	c.e16-1	p.K489_splice	CPNE6_uc001wlm.3_Splice_Site_p.K259_splice|CPNE6_uc001wll.3_Splice_Site_p.K434_splice|CPNE6_uc001wln.3_Splice_Site_p.K102_splice	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	434	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)		CTTGCCCTCAGAAGTACTCGG	0.597000														47			11		0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	861007	861007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:861007G>A	uc001ifs.1	-	14	1740	c.1699C>T	c.(1699-1701)Ctc>Ttc	p.L567F		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	567							RNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCTGCACTGAGGGTCTGAAAC	0.592000														39			17		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150877775	150877775	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:150877775C>T	uc003eyp.3	+	6	1123	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Missense_Mutation_p.P332S|MED12L_uc003eyo.3_Missense_Mutation_p.P332S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	332					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATCGGGGCCCCCAGCCCTGG	0.607000														213			25		0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127262788	127262788	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:127262788C>A	uc004boo.1	-	3	638	c.451G>T	c.(451-453)Ggc>Tgc	p.G151C	NR5A1_uc022bnh.1_Missense_Mutation_p.G151C	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	151					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GCGGCCAGGCCCTTGGGCTCA	0.741000														17			15		1.99824e-07	2.00318e-07	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5182205	5182205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:5182205C>T	uc003jdl.3	+	3	688	c.550C>T	c.(550-552)Cct>Tct	p.P184S	ADAMTS16_uc003jdk.1_Missense_Mutation_p.P184S|ADAMTS16_uc003jdj.1_Missense_Mutation_p.P184S	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	184					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AAGGCCACTTCCTTCACACCT	0.488000														97			43		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60695935	60695935	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:60695935G>A	uc002sae.1	-	2	647	c.419C>T	c.(418-420)cCt>cTt	p.P140L	BCL11A_uc002sab.3_Missense_Mutation_p.P140L|BCL11A_uc002sac.3_Missense_Mutation_p.P140L|BCL11A_uc010ypi.2_5'UTR|BCL11A_uc010ypj.2_Intron|BCL11A_uc002sad.1_5'UTR|BCL11A_uc002saf.1_Intron	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	140	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.P140T(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGCAGAACGAGGGGAGGAGAG	0.473000			T	IGH@	B-CLL									64			6		0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59283076	59283076	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59283076G>A	uc010rkv.2	+	0	691	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TCACACTGGGGAAGGCAGGAG	0.502000														262			26		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34513176	34513176	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:34513176G>A	uc003zum.3	+	15	1749	c.1556G>A	c.(1555-1557)gGa>gAa	p.G519E		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	519					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		ACAGAGGAGGGAAAAATCTAC	0.522000									Kartagener syndrome					105			62		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	175995723	175995723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:175995723C>T	uc021yie.1	+	3	443	c.169C>T	c.(169-171)Cct>Tct	p.P57S	CDHR2_uc003mem.2_Missense_Mutation_p.P57S|CDHR2_uc003men.1_Missense_Mutation_p.P57S	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	57	Cadherin 1.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGACAATGACCCTCTGACCTA	0.597000														80			16		0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89525033	89525033	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:89525033C>T	uc001dmx.2	-	3	615	c.395G>A	c.(394-396)gGa>gAa	p.G132E		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	132					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GTTGATGGTTCCTATGCTATT	0.527000														158			43		0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	44878220	44878220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44878220C>T	uc001clv.1	+	1	811	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	RNF220_uc001clw.1_Missense_Mutation_p.P151S	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	151					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CACAGAGTCTCCCCACTTGCG	0.562000														88			40		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255668	15255668	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15255668G>A	uc001iob.3	-	7	1926	c.1919C>T	c.(1918-1920)tCc>tTc	p.S640F		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	640						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GATGGCCTGGGAAGACAGGGG	0.612000														56			14		0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52473859	52473859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:52473859C>T	uc002egw.2	-	6	1180	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T	TOX3_uc010vgt.1_Missense_Mutation_p.A332T	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	337					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						ATGGTCTGGGCTTCTGCTGAC	0.433000														48			16		0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121439	50121439	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50121439C>T	uc001jhd.3	-	0	842	c.762G>A	c.(760-762)tgG>tgA	p.W254*	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Nonsense_Mutation_p.W254*	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	254						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CAAGTCACCTCCAGTCTTCCC	0.547000														150			57		0	0	1	0	0
DPAGT1	1798	broad.mit.edu	37	11	118967876	118967876	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118967876G>A	uc001pvi.3	-	7	1557	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	H2AFX_uc001pvg.3_5'Flank|DPAGT1_uc001pvj.3_Silent_p.L272L|DPAGT1_uc001pvk.3_Silent_p.L207L|DPAGT1_uc001pvm.1_3'UTR|DPAGT1_uc010rza.2_Silent_p.L272L	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	Homo sapiens dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) (DPAGT1), mRNA.	379					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity|phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GGAGCAATGTGAGGTTTCTCT	0.473000														137			65		0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64139739	64139739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:64139739G>A	uc002scq.3	-	18	2642	c.2479C>T	c.(2479-2481)Cat>Tat	p.H827Y	VPS54_uc002scp.3_Missense_Mutation_p.H815Y|VPS54_uc002scn.3_5'UTR|VPS54_uc002sco.3_Missense_Mutation_p.H312Y|VPS54_uc010fct.3_Missense_Mutation_p.H674Y	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	827					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GCTTCAAAATGAGCCCGGATC	0.358000														101			9		0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26627455	26627455	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26627455G>A	uc001blw.3	-	4	434	c.161C>T	c.(160-162)tCc>tTc	p.S54F	UBXN11_uc001bly.3_Missense_Mutation_p.S54F|UBXN11_uc001blz.1_Intron|UBXN11_uc001blx.3_Intron|UBXN11_uc001bma.3_Intron|UBXN11_uc010ofb.1_Intron|UBXN11_uc010ofc.1_Intron	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	54						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						GCCATAGCAGGAAGGGACTGA	0.617000														91			43		0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69230763	69230763	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:69230763G>A	uc003dnv.2	-	20	2428	c.2138C>T	c.(2137-2139)tCc>tTc	p.S713F	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.S365F|FRMD4B_uc011bga.1_Missense_Mutation_p.S557F	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	713						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TTTGGAGAGGGAGAAAAATGG	0.517000														65			22		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222729	140222729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140222729C>T	uc003lhs.2	+	0	1823	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	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_uc003lhr.1_Missense_Mutation_p.S608L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	621	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S608L(4)		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)			GCGTGGCTTTCGTATGAGCTG	0.682000														29			20		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96495170	96495170	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96495170C>T	uc001kjv.4	+	8	1768	c.1442C>T	c.(1441-1443)cCc>cTc	p.P481L	CYP2C19_uc001kjw.4_Missense_Mutation_p.P422L|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	481					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CGTGTGCCACCCTTGTACCAG	0.493000														185			23		0	0	1	0	0
LRRC57	255252	broad.mit.edu	37	15	42837368	42837368	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42837368C>T	uc001zqd.2	-	3	953	c.585G>A	c.(583-585)caG>caA	p.Q195Q	LRRC57_uc001zqc.3_Silent_p.Q195Q	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN	Homo sapiens leucine rich repeat containing 57 (LRRC57), mRNA.	195										breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		TGAGGATGCTCTGGGGAAGCA	0.423000														83			36		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48269841	48269841	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48269841C>T	uc002iqm.3	-	28	2104	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	660	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTTACCTGTTCACCAGGTTTG	0.582000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							21			9		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10114359	10114360	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10114359_10114360GG>AA	uc002mmq.1	-	5	816_817	c.730_731CC>TT	c.(730-732)cct>TTt	p.P244F		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	244	Nonhelical 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)			CTTCCGCCGAGGACGAGGGGTT	0.579000														79			9		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325311	150325311	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150325311G>A	uc022apv.1	-	2	1065	c.585C>T	c.(583-585)gcC>gcT	p.A195A	GIMAP6_uc003whn.3_Silent_p.A125A|GIMAP6_uc003whm.3_Missense_Mutation_p.R51C	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	125							GTP binding	p.R194Q(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGGAGCACGGCGTGGGGCC	0.622000														68			32		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156638365	156638365	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:156638365G>A	uc003iov.3	+	8	2163	c.1627G>A	c.(1627-1629)Gat>Aat	p.D543N	GUCY1A3_uc010iqc.2_Missense_Mutation_p.D543N|GUCY1A3_uc010iqd.3_Missense_Mutation_p.D542N|GUCY1A3_uc003iow.3_Missense_Mutation_p.D543N|GUCY1A3_uc003iox.3_Missense_Mutation_p.D543N|GUCY1A3_uc010iqe.3_Missense_Mutation_p.D308N|GUCY1A3_uc003ioy.3_Missense_Mutation_p.D543N|GUCY1A3_uc003ioz.3_Missense_Mutation_p.D308N|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.D543N	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	543	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CAAAGAGAGTGATACTCATGC	0.433000														90			19		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47361637	47361637	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:47361637G>A	uc002xtw.1	-	2	362	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	113	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGGCGGCCAAGAAATCCTTAT	0.502000														268			21		0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44477369	44477369	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44477369G>A	uc001cll.3	-	1	305	c.113C>T	c.(112-114)tCc>tTc	p.S38F	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.3_Intron|SLC6A9_uc009vxd.3_Intron|SLC6A9_uc010okn.2_Intron|SLC6A9_uc010oko.2_Intron|SLC6A9_uc001cln.3_Intron|SLC6A9_uc010okp.1_Intron	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	38						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CAGGAAGAAGGATCTCTGAAC	0.597000														43			13		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140396114	140396114	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140396114C>T	uc010ncj.1	-	14	1876	c.1539G>A	c.(1537-1539)agG>agA	p.R513R	PNPLA7_uc011mfa.1_Intron|PNPLA7_uc004cnf.2_Silent_p.R488R	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	488					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGTCTCCCTGCCTTGACACCA	0.637000														29			4		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719404	42719404	+	Missense_Mutation	SNP	C	T	T	rs144782781		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:42719404C>T	uc021xxv.1	+	9	1953	c.1816C>T	c.(1816-1818)Cat>Tat	p.H606Y	GHR_uc003jmt.3_Missense_Mutation_p.H599Y|GHR_uc003jmu.3_Missense_Mutation_p.H599Y|GHR_uc003jmv.2_Missense_Mutation_p.H599Y|GHR_uc021xxw.1_Missense_Mutation_p.H599Y|GHR_uc021xxx.1_Missense_Mutation_p.H599Y|GHR_uc021xxy.1_Missense_Mutation_p.H599Y|GHR_uc021xxz.1_Missense_Mutation_p.H599Y|GHR_uc021xya.1_Missense_Mutation_p.H599Y|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.H412Y|GHR_uc021xyd.1_Missense_Mutation_p.H577Y	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	599					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TACCTCCATTCATATAGTACA	0.512000														44			14		0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75174037	75174037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:75174037G>A	uc003uds.2	-	26	2767	c.2722C>T	c.(2722-2724)Cat>Tat	p.H908Y	HIP1_uc011kfz.2_Missense_Mutation_p.H857Y	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	908	I/LWEQ.|Important for actin binding (By similarity).				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCAATTTCATGAGAACACACC	0.527000			T	PDGFRB	CMML									44			15		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73566202	73566202	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73566202C>T	uc002joh.3	+	14	1894	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	LLGL2_uc002joi.3_Silent_p.F580F|LLGL2_uc010dgg.2_Silent_p.F580F|LLGL2_uc002joj.3_Silent_p.F569F|LLGL2_uc010wsd.2_Silent_p.F207F	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	580					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TTCAGCCCTTCGTGTTGGTGC	0.677000														13			5		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70926258	70926258	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70926258G>A	uc021rvq.1	+	0	2042	c.2042G>A	c.(2041-2043)gGa>gAa	p.G681E	ADAM21_uc001xmd.3_Missense_Mutation_p.G681E	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	681					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCAAAGAGAGGAGTTTTTTTG	0.488000														34			23		0	0	1	0	0
TPTEP1	387590	broad.mit.edu	37	22	17178622	17178622	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17178622G>A	uc002zls.1	+	2		c.704G>A								Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		CTGATGATTTGGAACAGTGTG	0.622000														27			12		0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579837	55579837	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55579837G>A	uc001nhw.1	+	0	895	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				AGATGTGAAAGAAGCTCTCAG	0.463000														51			22		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135485428	135485428	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:135485428C>T	uc004ezu.1	+	21	8892	c.8601C>T	c.(8599-8601)atC>atT	p.I2867I	GPR112_uc010nsb.1_Silent_p.I2662I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2867					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A2866T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGGTGGCAATCACAGTCAGTG	0.502000														39			12		0	0	1	0	0
SNAPC2	6618	broad.mit.edu	37	19	7987638	7987638	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7987638C>T	uc002miw.2	+	4	1052	c.994C>T	c.(994-996)Cct>Tct	p.P332S	SNAPC2_uc002mix.2_Non-coding_Transcript	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA.	332					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GGCAGCCACCCCTGCCAGGTG	0.687000														103			39		0	0	1	0	0
GDF11	10220	broad.mit.edu	37	12	56137461	56137461	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56137461G>A	uc001shq.3	+	0	398	c.361G>A	c.(361-363)Ggc>Agc	p.G121S		NM_005811	NP_005802	O95390	GDF11_HUMAN	Homo sapiens growth differentiation factor 11 (GDF11), mRNA.	121					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGACTTCCAGGGCGACGCGCT	0.667000														19			16		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	88123744	88123744	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:88123744G>A	uc001kdl.1	-	1	290	c.189C>T	c.(187-189)tcC>tcT	p.S63S	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	63						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGACCTTGATGGAGTAGGTGA	0.612000										Multiple Myeloma(13;0.14)				65			26		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20480926	20480926	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20480926G>A	uc010bwe.3	+	4	720	c.481G>A	c.(481-483)Gat>Aat	p.D161N	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.D82N|ACSM2A_uc002dhf.4_Missense_Mutation_p.D161N|ACSM2A_uc002dhg.4_Missense_Mutation_p.D161N|ACSM2A_uc010vay.2_Missense_Mutation_p.D82N	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	161					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGTTGCTGGGGATGAAGTCAT	0.448000														139			41		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156828383	156828383	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156828383C>T	uc010pht.2	-	0	330	c.31G>A	c.(31-33)Gca>Aca	p.A11T	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Missense_Mutation_p.A11T|NTRK1_uc001fqh.1_5'Flank|NTRK1_uc001fqi.1_5'Flank|NTRK1_uc009wsk.1_5'Flank	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	11					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCAGGCATGCTCCCCAGGGC	0.617000														80			30		0	0	1	0	0
MMAB	326625	broad.mit.edu	37	12	110009504	110009504	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:110009504G>A	uc001tou.3	-	1	219	c.146C>T	c.(145-147)tCc>tTc	p.S49F	MMAB_uc001tov.3_Non-coding_Transcript|MMAB_uc010sxq.2_5'UTR|MVK_uc001toy.4_5'Flank|MVK_uc009zvk.3_5'Flank|MVK_uc010sxr.2_5'Flank|MVK_uc001toz.4_5'Flank	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	49					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCTTCGAGGAAGGCTGTGG	0.498000														36			9		0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42302216	42302216	+	Silent	SNP	G	A	A	rs116687117	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:42302216G>A	uc003xpe.3	-	5	1047	c.678C>T	c.(676-678)ttC>ttT	p.F226F	SLC20A2_uc010lxl.3_Silent_p.F226F|SLC20A2_uc010lxm.3_Silent_p.F226F|SLC20A2_uc011lcu.2_Silent_p.F28F	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	226					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|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;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAAAAAAAGCGAACAGGAGGG	0.493000														55			31		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129833610	129833610	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:129833610G>A	uc021zfb.1	+	62	9065	c.8960G>A	c.(8959-8961)gGa>gAa	p.G2987E	LAMA2_uc003qbn.3_Missense_Mutation_p.G2985E|LAMA2_uc003qbo.3_Missense_Mutation_p.G2981E|BC035400_uc003qbq.3_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2987	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAAATGGATGGAATGGGTATT	0.388000														106			58		0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310108	56310108	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56310108G>A	uc010rjl.2	-	0	626	c.626C>T	c.(625-627)tCc>tTc	p.S209F	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GATGGTGAGGGAGCTGGAGAG	0.502000														59			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107131123	107131123	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:107131123G>A	uc021ser.1	-	78		c.3755C>T								Parts of antibodies, mostly variable regions.																		TGGAGATGGTGAATCGGCCCT	0.527000														201			24		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92523361	92523361	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92523361G>A	uc001pdj.4	+	6	4605	c.4588G>A	c.(4588-4590)Gac>Aac	p.D1530N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1530	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAGGCCCAGGACAAGCACAT	0.483000										TCGA Ovarian(4;0.039)				119			42		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691100	18691100	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:18691100C>T	uc001rdt.3	+	23	3327	c.3211C>T	c.(3211-3213)Cct>Tct	p.P1071S	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.P1112S|PIK3C2G_uc010sic.2_Missense_Mutation_p.P890S	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1071	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GGACCGAGCTCCTTTCATTTT	0.368000														51			27		0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90321118	90321118	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90321118C>T	uc004apc.3	+	25	3270	c.3132C>T	c.(3130-3132)gtC>gtT	p.V1044V	DAPK1_uc004apd.3_Silent_p.V1044V|DAPK1_uc011ltg.2_Silent_p.V978V|DAPK1_uc011lth.2_Silent_p.V781V|DAPK1_uc004apg.2_Silent_p.V21V	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	1044					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GCACAAACGTCCTGGGGAAGT	0.627000									Chronic Lymphocytic Leukemia, Familial Clustering of					40			10		0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37709492	37709492	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37709492C>T	uc003arf.3	+	12	1241	c.1125C>T	c.(1123-1125)acC>acT	p.T375T	CYTH4_uc011amw.2_Silent_p.T318T	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	375	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CCAGCATCACCCGTGTCCCCT	0.577000														76			24		0	0	1	0	0
IL20	50604	broad.mit.edu	37	1	207041867	207041867	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207041867G>A	uc001her.3	+	4	533	c.489G>A	c.(487-489)ggG>ggA	p.G163G	IL20_uc009xby.3_Silent_p.G138G	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN	Homo sapiens interleukin 20 (IL20), mRNA.	163					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		AGGCTTTGGGGGAACTAGACA	0.473000														22			7		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634069	32634069	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:32634069G>A	uc003zrg.1	-	0	1599	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	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.	503					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)		CATCCCAAATGATATTGTCCT	0.478000														130			36		0	0	1	0	0
NAIF1	203245	broad.mit.edu	37	9	130825767	130825767	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130825767G>A	uc004bta.3	-	1	1143	c.924C>T	c.(922-924)gcC>gcT	p.A308A	NAIF1_uc022bnv.1_5'Flank	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	Homo sapiens nuclear apoptosis inducing factor 1 (NAIF1), mRNA.	308					apoptosis|induction of apoptosis	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGAGGCGGGGGCCGGGTTAG	0.627000														90			25		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36228084	36228084	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36228084C>T	uc021usv.1	+	32	7470	c.7470C>T	c.(7468-7470)ttC>ttT	p.F2490F	MLL2_uc021usu.1_Silent_p.F1304F	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	5319	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ACTATAAGTTCCGTTACCACC	0.632000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				7			5		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77677851	77677851	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77677851G>A	uc011cbx.2	+	7	5912	c.4959G>A	c.(4957-4959)aaG>aaA	p.K1653K	SHROOM3_uc003hkg.3_Silent_p.K1431K	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1653					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GTTTAGAAAAGAAAGTCAGTC	0.493000														78			22		0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415537	88415537	+	Missense_Mutation	SNP	C	T	T	rs140130359		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:88415537C>T	uc010ikm.3	-	4	987	c.415G>A	c.(415-417)Gat>Aat	p.D139N	SPARCL1_uc011cdc.2_Missense_Mutation_p.D14N|SPARCL1_uc003hqs.4_Missense_Mutation_p.D139N|SPARCL1_uc011cdd.2_Missense_Mutation_p.D14N	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	139					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GCCAAAAAATCAGTGTTCTCT	0.378000														119			51		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41725476	41725476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41725476G>A	uc002yyq.1	-	4	1302	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	284	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCGAGGGGCGAATGTTCTCA	0.542000														84			26		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20652291	20652291	+	Silent	SNP	C	T	T	rs143680068	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:20652291C>T	uc001mqd.3	+	9	1827	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	SLC6A5_uc009yic.3_Silent_p.F283F	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	518					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TTGCCGGCTTCGTCATCTTCT	0.493000														100			35		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202287109	202287109	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:202287109G>A	uc001gxu.3	+	17	1678	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	LGR6_uc001gxv.3_Missense_Mutation_p.E508K|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.E421K	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	560						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GTACCTCTTTGAAAGCTGGGG	0.612000														82			35		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72324627	72324627	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72324627C>T	uc002jkm.4	+	1	241	c.103C>T	c.(103-105)Cat>Tat	p.H35Y	KIF19_uc002jkj.2_Missense_Mutation_p.H35Y|KIF19_uc002jkk.2_Missense_Mutation_p.H35Y|KIF19_uc002jkl.2_Missense_Mutation_p.H35Y	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	35	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCTCATCGCCCATAAAGTGGA	0.627000														12			4		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577796	9577796	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9577796G>A	uc002mlp.1	-	9	2037	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	ZNF560_uc010dwr.1_Silent_p.F503F	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGCGTTCTGTGAAGGCTTTTC	0.423000														143			47		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120369247	120369247	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:120369247A>T	uc002tmb.3	+	13	1494	c.382A>T	c.(382-384)Att>Ttt	p.I128F	PCDP1_uc010yyq.2_Missense_Mutation_p.I258F	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	414						cilium	calmodulin binding					Colorectal(110;0.196)					AGGAGATCCTATTTTGGATGA	0.333000														72			28		0	0	1	0	0
LRRC40	55631	broad.mit.edu	37	1	70644631	70644631	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:70644631G>A	uc001der.2	-	5	845	c.707C>T	c.(706-708)cCt>cTt	p.P236L		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	Homo sapiens leucine rich repeat containing 40 (LRRC40), mRNA.	236										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CAATTCAGGAGGTATAGTTTC	0.313000														43			8		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40076668	40076668	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:40076668G>A	uc001rmc.3	+	7	1109	c.942G>A	c.(940-942)agG>agA	p.R314R	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	314								p.R314R(2)		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						ATGAGCAAAGGATAAAGAAAA	0.328000														56			18		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36093535	36093535	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:36093535C>T	uc003gsq.2	-	27	4731	c.4393G>A	c.(4393-4395)Gat>Aat	p.D1465N		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1465	PH 5.				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						AGAAACCCATCTCGTAAAACA	0.328000														69			23		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36271691	36271691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36271691C>T	uc002obs.2	+	9	946	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	ARHGAP33_uc002obr.2_Missense_Mutation_p.P268S|ARHGAP33_uc002obt.2_Missense_Mutation_p.P132S|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	268					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CATCCCGGCTCCCCAGGGTAT	0.622000														95			31		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23871841	23871841	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:23871841C>T	uc003sws.4	+	23	2983	c.2916C>T	c.(2914-2916)ttC>ttT	p.F972F	STK31_uc003swt.4_Silent_p.F949F|STK31_uc011jze.2_Silent_p.F949F|STK31_uc010kuq.3_Silent_p.F949F|STK31_uc003swv.1_Silent_p.F138F	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	972	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGAATGTTTCTTGATGCCAA	0.353000														69			24		0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248486965	248486965	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248486965C>T	uc010pzk.2	-	0	906	c.906G>A	c.(904-906)atG>atA	p.M302I		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M302I(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			CTAAGATTTTCATTAATGCTC	0.403000														60			25		0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53558288	53558288	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:53558288G>A	uc003xre.4	-	15	4519	c.3961C>T	c.(3961-3963)Cga>Tga	p.R1321*	RB1CC1_uc003xrf.4_Nonsense_Mutation_p.R1321*	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	1321					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AAAGATGTTCGAACATTTTGC	0.313000														44			18		0	0	1	0	0
EXOC6	54536	broad.mit.edu	37	10	94708030	94708030	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:94708030G>A	uc010qnr.2	+	15	1502	c.1359_splice	c.e15-1	p.R453_splice	EXOC6_uc001kie.3_Splice_Site_p.R432_splice|EXOC6_uc001kig.3_Splice_Site_p.R437_splice|EXOC6_uc009xub.3_Splice_Site_p.R437_splice|EXOC6_uc009xuc.3_Splice_Site_p.R334_splice|EXOC6_uc001kih.3_Splice_Site|EXOC6_uc001kii.3_Missense_Mutation_p.R11K	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	437					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TTTCCTAACAGGGACATTTTT	0.318000														45			30		0	0	1	0	0
BARHL2	343472	broad.mit.edu	37	1	91177971	91177971	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:91177971C>T	uc001dns.3	-	2	1104	c.1062G>A	c.(1060-1062)cgG>cgA	p.R354R		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.	354						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GCACCAGGGGCCGCTGCAGCT	0.687000														11			4		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670384	134670384	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:134670384C>T	uc003eqt.3	+	2	670	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Missense_Mutation_p.L99F	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	99						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTGCAGCAGCCTCCCTAATGT	0.542000														37			19		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56382215	56382215	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56382215G>A	uc002qmd.4	+	6	2799	c.2377G>A	c.(2377-2379)Gag>Aag	p.E793K	NLRP4_uc002qmf.3_Missense_Mutation_p.E718K|NLRP4_uc010etf.3_Missense_Mutation_p.E568K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	793							ATP binding	p.E793K(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCACCTCAGCGAGCAGTGCTG	0.493000														55			21		0	0	1	0	0
CORO6	84940	broad.mit.edu	37	17	27943157	27943157	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:27943157G>A	uc002hel.2	-	8	1101	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S	CORO6_uc002hem.3_Missense_Mutation_p.P133S|CORO6_uc002hen.3_Missense_Mutation_p.P133S	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	Homo sapiens coronin 6 (CORO6), mRNA.	367					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						TCCGGGCCTGGCGTATCCGGG	0.662000														14			18		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32752500	32752501	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:32752500_32752501CC>TT	uc001utx.3	+	20	3104_3105	c.2608_2609CC>TT	c.(2608-2610)ccc>TTc	p.P870F	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAAGCACTGCCCCACAGCCCTC	0.559000														137			47		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129030435	129030435	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:129030435C>T	uc003kvb.1	+	18	2823	c.2823C>T	c.(2821-2823)tcC>tcT	p.S941S	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.	941	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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)		CAACAGTGTCCTGCACAAAAA	0.348000														72			22		0	0	1	0	0
EIF2C2	27161	broad.mit.edu	37	8	141542669	141542669	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:141542669G>A	uc003yvn.3	-	17	2358	c.2317C>T	c.(2317-2319)Cgt>Tgt	p.R773C	EIF2C2_uc010meo.3_Missense_Mutation_p.R739C|EIF2C2_uc010men.3_Missense_Mutation_p.R696C	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	773	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GAGGAGAAACGATTGTCGTCC	0.517000														42			21		0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953494	56953494	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56953494G>A	uc002qne.3	-	6	1661	c.870C>T	c.(868-870)ttC>ttT	p.F290F	ZNF667_uc010etl.3_Silent_p.F72F|ZNF667_uc002qnd.3_Silent_p.F290F|ZNF667_uc010etm.3_Silent_p.F233F	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATTTCTTTTTGAAGCCTCTCC	0.358000														135			13		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124766906	124766906	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124766906C>T	uc001qbg.3	-	1	462	c.322G>A	c.(322-324)Gac>Aac	p.D108N	ROBO4_uc010sas.2_5'UTR|ROBO4_uc001qbh.2_Intron|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	108	Ig-like C2-type 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACACCCAGGTCTGTGGACAGG	0.672000														29			12		0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64821816	64821816	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64821816C>T	uc001ocn.3	-	5	914	c.898G>A	c.(898-900)Gga>Aga	p.G300R	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	300	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.N299I(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GCCAAAGTTCCGTTGAGGTTA	0.637000														40			15		0	0	1	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1510897	1510897	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:1510897G>A	uc010xgq.1	-	2	395	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	ADAMTSL5_uc010dsl.2_5'UTR|ADAMTSL5_uc002ltd.2_Missense_Mutation_p.L16F	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	Homo sapiens ADAMTS-like 5 (ADAMTSL5), mRNA.	16						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		AAGAGCAGGAGGTTCTGGAAG	0.652000														13			5		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169494601	169494601	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:169494601G>A	uc003maf.3	+	44	4635	c.4555G>A	c.(4555-4557)Gat>Aat	p.D1519N	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.D1011N|DOCK2_uc003mah.3_Missense_Mutation_p.D75N	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1519	DHR-2.				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			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)			GTACCAGAGTGATGAGACCCT	0.493000														106			29		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612096	189612096	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:189612096C>T	uc003fry.2	+	13	1937	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Silent_p.L522L|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Silent_p.L437L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	616	Transactivation inhibition.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTTCTCATCTCCTGCGGACCC	0.572000										HNSCC(45;0.13)				88			25		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196871677	196871677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:196871677C>T	uc001gtp.3	+	1	325	c.188C>T	c.(187-189)cCt>cTt	p.P63L	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.P62L|CFH_uc001gto.3_Missense_Mutation_p.P63L	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	364	Sushi 1.				complement activation, alternative pathway	extracellular space		p.V62I(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTTGTGACTCCTTCAGGAAGT	0.398000														158			56		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96937849	96937849	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:96937849G>A	uc001yfn.2	+	12	1436	c.1392G>A	c.(1390-1392)atG>atA	p.M464I		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	464	Adenylate kinase.				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)		TTAGATTTATGAAAGAAAAGC	0.289000														52			22		0	0	1	0	0
WRB	7485	broad.mit.edu	37	21	40765134	40765134	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:40765134C>T	uc002yxs.3	+	3	477	c.379C>T	c.(379-381)Cct>Tct	p.P127S	WRB_uc002yxt.4_Missense_Mutation_p.P93S|WRB_uc010goj.3_Non-coding_Transcript	NM_004627	NP_001139690	O00258	WRB_HUMAN	Homo sapiens tryptophan rich basic protein (WRB), transcript variant 1, mRNA.	127						integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				TTATTCTGTCCCTGTGGCTGT	0.498000														64			22		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61742998	61742998	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:61742998C>T	uc003xue.3	+	14	4132	c.3640C>T	c.(3640-3642)Cag>Tag	p.Q1214*	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1214			Q -> R (in CHARGES).		T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AACAAACATTCAGAAGAAATA	0.378000														109			39		0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22806109	22806109	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:22806109G>A	uc002kvk.2	-	3	2020	c.1773C>T	c.(1771-1773)gcC>gcT	p.A591A	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.A591A|ZNF521_uc002kvl.2_Silent_p.A371A	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	591					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TATAATTCAGGGCCAAGGGAA	0.413000			T	PAX5	ALL									55			26		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179408964	179408964	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179408964C>T	uc021vsy.1	-	293	88513	c.88288G>A	c.(88288-88290)Gaa>Aaa	p.E29430K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E23125K|TTN_uc021vta.1_Missense_Mutation_p.E23058K|TTN_uc021vtb.1_Missense_Mutation_p.E22933K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30357	Fibronectin type-III 114.						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)			GCAATTGATTCGCTGTATTCG	0.383000														52			21		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98421634	98421634	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:98421634C>T	uc002syh.4	-	21	2548	c.2319G>A	c.(2317-2319)caG>caA	p.Q773Q		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	773						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ACATATCTTCCTGCATGGCTA	0.408000														30			6		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234862561	234862561	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234862561C>T	uc002vvh.3	+	10	1181	c.1141_splice	c.e10-1	p.L381_splice	TRPM8_uc010fyj.3_Splice_Site_p.L69_splice	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	381						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATTTCGCCAGCTCAAAGAAAT	0.373000														29			12		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92600189	92600189	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92600189G>A	uc001pdj.4	+	20	11958	c.11941G>A	c.(11941-11943)Ggc>Agc	p.G3981S	FAT3_uc001pdi.4_Missense_Mutation_p.G421S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3981	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGTGCTCAGCGGCTTCCAGGG	0.617000										TCGA Ovarian(4;0.039)				6			4		0	0	1	0	0
O3FAR1	338557	broad.mit.edu	37	10	95338948	95338948	+	Silent	SNP	C	T	T	rs140807207	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95338948C>T	uc010qnt.2	+	2	785	c.729C>T	c.(727-729)gtC>gtT	p.V243V	O3FAR1_uc010qnu.2_Intron	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	243					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding			breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						CAAGAGCTGTCGTGACTCACA	0.493000														64			22		0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14489121	14489121	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:14489121C>T	uc010heg.3	+	4	695	c.396C>T	c.(394-396)tcC>tcT	p.S132S	SLC6A6_uc003byp.3_Silent_p.S132S|SLC6A6_uc010hef.1_Non-coding_Transcript|SLC6A6_uc003byq.3_Silent_p.S132S|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	132					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	p.S132F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TAATTGTGTCCCTCCTGAATG	0.542000														577			47		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73068427	73068427	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73068427G>A	uc004ebm.1	-	0		c.4162C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CCTTTCTAATGGACAGGACTC	0.433000														5			9		0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175467	159175467	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159175467C>T	uc001ftp.4	+	0	419	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F	DARC_uc001fto.3_Missense_Mutation_p.L80F	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	80					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	p.F81V(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CAGCACTGTCCTCTTCATGCT	0.592000														173			15		0	0	1	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6525594	6525594	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6525594G>A	uc001anh.3	-	1	154	c.66C>T	c.(64-66)gcC>gcT	p.A22A	TNFRSF25_uc001ana.3_Silent_p.A22A|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_5'UTR|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Silent_p.A22A|TNFRSF25_uc001anf.3_Silent_p.A22A|TNFRSF25_uc001ang.3_Silent_p.A22A|TNFRSF25_uc001ani.1_Silent_p.A22A	NM_148965	NP_683866	Q93038	TNR25_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.	22					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGGGCCCGGGCCCCCAGCA	0.652000														23			14		0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164534538	164534538	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:164534538C>T	uc003iqs.2	-	4	352	c.170G>A	c.(169-171)aGc>aAc	p.S57N	MARCH1_uc003iqr.2_Missense_Mutation_p.S40N	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	57	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)				TGTTGTTGGGCTGCTTGCCTG	0.403000														84			37		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158284011	158284011	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:158284011G>A	uc003ipm.4	+	14	2926	c.2467G>A	c.(2467-2469)Ggc>Agc	p.G823S	GRIA2_uc011cit.2_Missense_Mutation_p.G776S|GRIA2_uc003ipl.4_Missense_Mutation_p.G823S|GRIA2_uc003ipk.4_Missense_Mutation_p.G776S|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	823					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CCTTGTCGGGGGCCTTGGTTT	0.453000														99			15		0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41792152	41792152	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:41792152G>A	uc010lxb.3	-	17	4130	c.3586C>T	c.(3586-3588)Cct>Tct	p.P1196S	KAT6A_uc010lxc.3_Missense_Mutation_p.P1196S|KAT6A_uc003xon.4_Missense_Mutation_p.P1196S	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1196					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CCAGCTTTAGGAATGGAAACG	0.483000														140			25		0	0	1	0	0
CLK2P	1197	broad.mit.edu	37	7	23625451	23625451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:23625451C>T	uc003swk.2	-	0	696	c.46G>A	c.(46-48)Gag>Aag	p.E16K						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		CCCAGAAGCTCCAAGGAGATA	0.532000														35			14		0	0	1	0	0
SNORD109B	338429	broad.mit.edu	37	15	25287187	25287187	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:25287187C>T	uc001yxf.1	+	1		c.67_splice	c.e1+1							Homo sapiens small nucleolar RNA, C/D box 109B (SNORD109B), small nucleolar RNA.																		ATCTGAGGTCCAGATGTGTGG	0.468000														22			6		0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50388763	50388763	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:50388763G>A	uc021thx.1	-	2	489	c.329C>T	c.(328-330)cCt>cTt	p.P110L	BRD7_uc002ege.2_Missense_Mutation_p.P110L	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA.	110					Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TAATCTCACAGGGGCGTGACA	0.443000														116			28		0	0	1	0	0
BTN2A1	11120	broad.mit.edu	37	6	26463639	26463639	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:26463639C>T	uc003nib.2	+	3	846	c.598C>T	c.(598-600)Ctc>Ttc	p.L200F	BTN2A1_uc021yni.1_Missense_Mutation_p.L200F|BTN2A1_uc003nic.2_Missense_Mutation_p.L200F|BTN2A1_uc011dko.2_Missense_Mutation_p.L139F	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	200					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGCAGACGGCCTCTTCATGGT	0.557000														114			38		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50537852	50537852	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:50537852C>T	uc003tpg.4	-	11	1260	c.1059G>A	c.(1057-1059)ctG>ctA	p.L353L	DDC_uc022ade.1_Silent_p.L275L|DDC_uc003tpf.4_Silent_p.L353L|DDC_uc022adb.1_Silent_p.L315L|DDC_uc022adc.1_Silent_p.L305L|DDC_uc022add.1_Silent_p.L260L	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	353					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ATCTTCTGCCCAGTGGTATCT	0.418000														97			32		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105105720	105105720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:105105720C>T	uc003yls.3	+	20	2984	c.2743C>T	c.(2743-2745)Cat>Tat	p.H915Y	RIMS2_uc003ylp.3_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.H988Y|RIMS2_uc003ylq.3_Intron|RIMS2_uc003ylr.3_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	369					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)			ATGGGATCCTCATAGAGGGGC	0.398000										HNSCC(12;0.0054)				98			41		0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	64981483	64981483	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64981483C>T	uc021qlg.1	+	0	173	c.140C>T	c.(139-141)cCc>cTc	p.P47L	SLC22A20_uc021qlh.1_5'UTR	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 1, mRNA.	45					ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GCCGCTGTCCCCCCCCACCAC	0.692000														12			5		0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100055656	100055656	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:100055656G>A	uc002tad.3	-	5	832	c.620C>T	c.(619-621)tCt>tTt	p.S207F	REV1_uc002tac.3_Missense_Mutation_p.S207F|REV1_uc002tae.1_Missense_Mutation_p.S186F	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	207					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						CCTTCCCGGAGAGGTCTGCTC	0.418000								Direct reversal of damage						49			11		0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125621386	125621386	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:125621386C>T	uc001uhc.3	+	16	2063	c.1857C>T	c.(1855-1857)ctC>ctT	p.L619L	AACS_uc001uhd.3_Intron|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_Silent_p.L217L	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	619					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGCCCAGCCTCATCCTGGAAA	0.632000														44			20		0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3108551	3108551	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3108551G>A	uc002cth.3	+	8	1535	c.1298G>A	c.(1297-1299)gGc>gAc	p.G433D	BC045731_uc002ctj.1_Intron	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	Homo sapiens matrix metallopeptidase 25 (MMP25), mRNA.	433	Hemopexin-like 3.				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CTGGTCCGCGGCCGGCAGTAC	0.751000														10			5		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1017688	1017688	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1017688C>T	uc001lsw.2	-	30	5164	c.5113G>A	c.(5113-5115)Gaa>Aaa	p.E1705K		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1705	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGGTGGCTTCAGCATGGTGT	0.557000														620			79		0	0	1	0	0
TMEM59L	25789	broad.mit.edu	37	19	18731332	18731332	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18731332C>T	uc002njy.4	+	7	1102	c.1015C>T	c.(1015-1017)Ctg>Ttg	p.L339L		NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	339						Golgi membrane|integral to membrane|membrane fraction		p.D338E(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GAAGCTGGACCTGACCAAGCT	0.662000														51			18		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	98002508	98002508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98002508C>T	uc001kls.4	-	2	324	c.146G>A	c.(145-147)cGa>cAa	p.R49Q	BLNK_uc001kme.4_Intron|BLNK_uc001klt.4_Intron|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_Intron|BLNK_uc001klv.4_Missense_Mutation_p.R49Q|BLNK_uc001klw.4_Intron|BLNK_uc001klx.4_Missense_Mutation_p.R49Q|BLNK_uc001kly.4_Missense_Mutation_p.R49Q|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.R49Q|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_Intron|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	49					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GTAGTCCCTTCGAGGAACACT	0.388000														81			44		0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57117372	57117373	+	Splice_Site	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57117372_57117373GG>AA	uc001nju.3	+	7	889	c.705_splice	c.e7+1	p.T235_splice		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	235					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						TGGCGCGCACGGTGAGGACCTA	0.639000											OREG0020966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064305	9064305	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9064305G>A	uc002mkp.3	-	2	23345	c.23141C>T	c.(23140-23142)cCc>cTc	p.P7714L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7716	Ser-rich.|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						CACAGGAAGGGGAGAGGGGGG	0.537000														59			29		0	0	1	0	0
CHST10	9486	broad.mit.edu	37	2	101012051	101012051	+	Silent	SNP	G	A	A	rs138672369		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:101012051G>A	uc002tam.3	-	5	851	c.453C>T	c.(451-453)atC>atT	p.I151I		NM_004854	NP_004845	O43529	CHSTA_HUMAN	Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.	151					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CGTTTTCGGGGATCTCCTCAA	0.522000														77			28		0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64668705	64668705	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:64668705G>A	uc021qzu.1	-	10	1560	c.1560C>T	c.(1558-1560)tcC>tcT	p.S520S	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Silent_p.S360S|C12orf56_uc001srz.3_Silent_p.S2S|C12orf56_uc001sry.3_Silent_p.S102S	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	523										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)		TTTGTAGAAAGGACATTATCC	0.353000														72			18		0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161753803	161753803	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161753803C>T	uc001gbs.3	+	3	388	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	ATF6_uc001gbq.2_Nonsense_Mutation_p.Q91*	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	91	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GGCAGAACCTCAGCCACTTTC	0.398000														164			42		0	0	1	0	0
CELA2A	63036	broad.mit.edu	37	1	15789234	15789234	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:15789234C>T	uc001awk.3	+	3	260	c.234C>T	c.(232-234)tcC>tcT	p.S78S		NM_033440	NP_254275	P08217	CEL2A_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2A (CELA2A), mRNA.	78	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CCAGCTCCTCCAGGACCTACC	0.617000														100			39		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171173052	171173052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171173052G>A	uc001ghk.1	+	5	793	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	FMO2_uc010pmd.1_Missense_Mutation_p.E6K	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	226					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCGTATCTCTGAAGATGGCTA	0.468000														57			17		0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1943501	1943501	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:1943501C>T	uc001qjt.2	+	4	1533	c.727C>T	c.(727-729)Ccc>Tcc	p.P243S	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.P243S|LRTM2_uc010sdx.1_Missense_Mutation_p.P243S|LRTM2_uc001qjv.2_Missense_Mutation_p.P5S	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	243	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCGGATGGTCCCCATGGAGAT	0.602000														44			13		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835344	38835344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38835344G>A	uc003ciq.3	-	0	158	c.158C>T	c.(157-159)cCc>cTc	p.P53L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	53					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTCCAGCTGGGGCCGAGGCTT	0.542000														119			61		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856572	54856572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:54856572C>T	uc002rxu.3	+	13	2550	c.2301C>T	c.(2299-2301)gtC>gtT	p.V767V	SPTBN1_uc002rxv.1_Silent_p.V767V|SPTBN1_uc002rxx.3_Silent_p.V754V	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	767					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TCAAGATTGTCTCCAGCAGCG	0.562000														67			22		0	0	1	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998909	8998909	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:8998909G>A	uc022arp.1	-	0	253	c.253C>T	c.(253-255)Ccg>Tcg	p.P85S	PPP1R3B_uc003wsn.4_Missense_Mutation_p.P85S|PPP1R3B_uc003wso.4_Missense_Mutation_p.P85S	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.	85					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ATATCTAGCGGGTCATCGAAT	0.532000														124			10		0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586169	20586169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20586169C>T	uc001vwo.1	+	0	604	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTTTTGTGGTCCCAATGTGGT	0.438000														153			65		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645662	45645662	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:45645662G>A	uc003jok.3	-	1	499	c.474C>T	c.(472-474)gtC>gtT	p.V158V		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	158						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGGTATGATGACTAGATTTC	0.318000														66			30		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70949081	70949081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70949081G>A	uc001swb.4	-	17	4378	c.4348C>T	c.(4348-4350)Cct>Tct	p.P1450S	PTPRB_uc010sto.2_Missense_Mutation_p.P1360S|PTPRB_uc010stp.2_Missense_Mutation_p.P1360S|PTPRB_uc001swc.4_Missense_Mutation_p.P1668S|PTPRB_uc001swa.4_Missense_Mutation_p.P1580S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1450	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGGGGTGGAGGAGGGGGGCCT	0.483000														14			4		0	0	1	0	0
HMP19	51617	broad.mit.edu	37	5	173531281	173531281	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:173531281C>T	uc003mcx.3	+	3	409	c.264C>T	c.(262-264)ttC>ttT	p.F88F	HMP19_uc011dfh.2_5'UTR	NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	Homo sapiens HMP19 protein (HMP19), mRNA.	88					dopamine receptor signaling pathway	Golgi cisterna membrane|cytoplasmic vesicle membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)	15	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCATCGTGTTCCTGGTGGTTT	0.498000														57			30		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941152	144941152	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144941152C>T	uc003zaa.1	-	0	6283	c.6270G>A	c.(6268-6270)cgG>cgA	p.R2090R		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2090						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.R2090Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTCGGAGTCCCGTGCAGCCT	0.597000														121			14		0	0	1	0	0
BSND	7809	broad.mit.edu	37	1	55473947	55473947	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55473947G>A	uc001cye.3	+	3	852	c.609G>A	c.(607-609)atG>atA	p.M203I		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	203						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						ACCTGGACATGGACTCCAGTG	0.617000														39			16		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28649024	28649024	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28649024C>T	uc002kwl.4	-	14	2798	c.2344G>A	c.(2344-2346)Gag>Aag	p.E782K	DSC2_uc002kwk.4_Missense_Mutation_p.E782K	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	782					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCGATGGTCTCCTGACCTCCG	0.567000														48			23		0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50521574	50521574	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50521574G>A	uc003bjg.1	-	2	479	c.206C>T	c.(205-207)tCg>tTg	p.S69L	MLC1_uc011arl.1_Missense_Mutation_p.S69L|MLC1_uc003bjh.1_Missense_Mutation_p.S69L|MLC1_uc011arm.1_Intron|MLC1_uc011arn.1_5'UTR|MLC1_uc011aro.1_Missense_Mutation_p.S69L	NM_139202	NP_631941	Q15049	MLC1_HUMAN	Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA.	69						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CAGGTACAGCGAAAACCCCGA	0.607000														72			26		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84366585	84366585	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:84366585C>T	uc021zcf.1	-	6	577	c.547_splice	c.e6-1	p.V183_splice	SNAP91_uc003pka.3_Splice_Site_p.V183_splice|SNAP91_uc011dze.2_Splice_Site_p.V183_splice|SNAP91_uc003pkc.3_Splice_Site_p.V183_splice|SNAP91_uc003pkd.3_Splice_Site_p.V183_splice|SNAP91_uc003pkb.3_Splice_Site_p.V148_splice|SNAP91_uc011dzf.1_Splice_Site_p.V64_splice	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	183					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TTGGATGCACCTAGAAAAACA	0.289000														9			5		0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185232257	185232257	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:185232257C>T	uc003fpm.3	-	7	1145	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G	LIPH_uc010hyh.3_Silent_p.G311G	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	345					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TGGTAATGTCCCCTCTTCTTA	0.378000														86			26		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72039235	72039235	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72039235C>T	uc002atb.1	+	11	2174	c.2095C>T	c.(2095-2097)Cgc>Tgc	p.R699C	THSD4_uc002ate.2_Missense_Mutation_p.R339C	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	699	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CATGCAGCACCGCCAGGTTCT	0.622000														72			12		0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405072	68405072	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:68405072C>T	uc002ewa.3	-	2	1435	c.1013G>A	c.(1012-1014)aGg>aAg	p.R338K	SMPD3_uc010cfe.3_Missense_Mutation_p.R338K|SMPD3_uc010vlh.2_Missense_Mutation_p.R338K	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	338					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GGGGTGCCGCCTCCTGCGTGC	0.662000														31			16		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63966615	63966615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:63966615C>T	uc002amp.3	-	37	7920	c.7772G>A	c.(7771-7773)cGa>cAa	p.R2591Q		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2591					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGCTTGCGCTCGTTCCAGATC	0.448000														67			11		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61562572	61562572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61562572C>T	uc010xeu.2	+	3	576	c.243C>T	c.(241-243)ttC>ttT	p.F81F	SERPINB2_uc002ljo.3_Silent_p.F81F|SERPINB2_uc002ljp.1_5'Flank|SERPINB2_uc002ljq.1_5'Flank	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	81					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.G80W(1)		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)	GCTGTGGGTTCATGCAGCAGA	0.433000														135			70		0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824694	54824694	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:54824694C>T	uc002xxb.2	+	0	907	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	302					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TGGTCCTCATCATCACCTGCC	0.562000														89			57		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198651	20198651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:20198651C>T	uc003sus.4	-	4	1642	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	MACC1_uc010kug.3_Missense_Mutation_p.E445K	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	445					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTCTTTACTTCAAAATCAGGA	0.353000														69			16		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171080016	171080016	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171080016C>T	uc001ghi.3	+	5	816	c.705C>T	c.(703-705)ctC>ctT	p.L235L	FMO3_uc001ghh.3_Silent_p.L235L|FMO3_uc010pmb.2_Silent_p.L215L|FMO3_uc010pmc.2_Silent_p.L172L	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	235					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACATGCTGCTCGTCACTCGAT	0.463000														159			67		0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30066932	30066932	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:30066932G>A	uc001wqh.3	-	15	2380	c.2199C>T	c.(2197-2199)atC>atT	p.I733I	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	733	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.R732L(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCTCTCCAATGATCCGGGCAA	0.468000														50			26		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3248121	3248121	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:3248121C>T	uc004crg.4	-	3	804	c.647G>A	c.(646-648)gGa>gAa	p.G216E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	216						extracellular region				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)				CCACGGATTTCCCTGCAAGTA	0.488000														9			5		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921215	24921215	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24921215C>T	uc001ywo.3	+	0	675	c.201C>T	c.(199-201)gcC>gcT	p.A67A		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	67					cell differentiation|multicellular organismal development|spermatogenesis			p.V66V(2)		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)		TCTTCGTCGCCCCTAAGAGGC	0.716000														35			8		0	0	1	0	0
SERPINA13	388007	broad.mit.edu	37	14	95109994	95109994	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:95109994C>T	uc001ydt.3	+	2	1031	c.943C>T	c.(943-945)Ccc>Tcc	p.P315S						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						CTTCATCTTCCCCAACAGGGG	0.587000														26			11		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220500079	220500079	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220500079C>T	uc002vmo.4	+	12	2123	c.1914C>T	c.(1912-1914)atC>atT	p.I638I	SLC4A3_uc002vmp.4_Silent_p.I611I|SLC4A3_uc010fwm.3_Silent_p.I161I|SLC4A3_uc010fwn.1_Silent_p.I120I	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	611					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCATTGTGATCCCCCCGTCCG	0.612000														60			25		0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617553	54617553	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:54617553C>T	uc022adk.1	+	3	729	c.324C>T	c.(322-324)atC>atT	p.I108I	VSTM2A_uc010kzf.3_Silent_p.I108I	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	108	Ig-like V-type.					extracellular region		p.I107I(2)|p.I108I(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCAATGACATCTCCCACAAGC	0.408000														24			10		0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135073590	135073590	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135073590C>T	uc004cbh.2	+	2	1227	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	151	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGTCATGGTCCTGGAGAAGTC	0.652000														39			14		0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50944496	50944496	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50944496G>A	uc003blp.2	-	4	773	c.742C>T	c.(742-744)Cga>Tga	p.R248*	LMF2_uc003blo.2_Nonsense_Mutation_p.R223*|NCAPH2_uc003blq.4_5'Flank|NCAPH2_uc003blv.3_5'Flank|NCAPH2_uc003blx.4_5'Flank|NCAPH2_uc003blr.4_5'Flank	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	248						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGCAGGCGTCGAATGGGGGCG	0.647000														3			5		0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29793298	29793298	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29793298C>T	uc002kxj.4	+	10	1402	c.1355C>T	c.(1354-1356)cCa>cTa	p.P452L		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	452	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TATAGCCCTCCATTTTACTCT	0.408000														31			4		0	0	1	0	0
PRRX2	51450	broad.mit.edu	37	9	132483027	132483027	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:132483027C>T	uc004byh.3	+	2	827	c.600C>T	c.(598-600)ctC>ctT	p.L200L		NM_016307	NP_057391	Q99811	PRRX2_HUMAN	Homo sapiens paired related homeobox 2 (PRRX2), mRNA.	200						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				CAGATTATCTCTCCTGGACAG	0.662000														53			15		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27333047	27333047	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:27333047G>A	uc003cdt.2	-	17	1678	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	NEK10_uc003cds.1_5'UTR	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	468							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTATGTCAATGAAGATCTCAA	0.348000														21			11		0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92470193	92470193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:92470193G>A	uc001xzy.3	-	10	4501	c.4127C>T	c.(4126-4128)tCg>tTg	p.S1376L	TRIP11_uc010auf.2_Missense_Mutation_p.S1112L	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	1376					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GGCAGCAATCGAATCAGACAA	0.378000			T	PDGFRB	AML									105			49		0	0	1	0	0
ABHD5	51099	broad.mit.edu	37	3	43753352	43753352	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:43753352T>G	uc003cmx.3	+	3	768	c.658T>G	c.(658-660)Ttt>Gtt	p.F220V		NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN	Homo sapiens abhydrolase domain containing 5 (ABHD5), mRNA.	220					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		TGCAGGACCCTTTGGTGAGTG	0.403000														113			52		0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151747249	151747249	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151747249G>A	uc009wnb.1	-	11	1752	c.1570C>T	c.(1570-1572)Ctc>Ttc	p.L524F	TDRKH_uc001eyy.2_Missense_Mutation_p.L300F|TDRKH_uc001ezb.4_Missense_Mutation_p.L520F|TDRKH_uc001ezc.4_Missense_Mutation_p.L479F|TDRKH_uc001eza.4_Missense_Mutation_p.L524F|TDRKH_uc001ezd.4_Missense_Mutation_p.L524F|TDRKH_uc010pdn.1_Missense_Mutation_p.L300F	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	524							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTCTCAGTGAGCAACGTGCTG	0.468000														142			55		0	0	1	0	0
STK4	6789	broad.mit.edu	37	20	43610524	43610524	+	Silent	SNP	C	T	T	rs138052948		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43610524C>T	uc002xnb.3	+	3	390	c.300C>T	c.(298-300)atC>atT	p.I100I	STK4_uc010ggx.3_Silent_p.I100I|STK4_uc010ggy.3_Silent_p.I100I|STK4_uc010ggw.1_Silent_p.I100I	NM_006282	NP_006273	Q13043	STK4_HUMAN	Homo sapiens serine/threonine kinase 4 (STK4), mRNA.	100	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	p.I100I(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				ACTTATGGATCGTTATGGAGT	0.363000														54			32		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60899610	60899610	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:60899610C>T	uc002ycq.3	-	42	5597	c.5530_splice	c.e42-1	p.E1844_splice	LAMA5_uc021wfw.1_Splice_Site_p.E1844_splice	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1844	Laminin EGF-like 16; second part.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGGCACATTCCTGAGGGTGT	0.627000														11			9		0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223795394	223795394	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:223795394C>T	uc002vni.3	+	13	2047	c.1596C>T	c.(1594-1596)ggC>ggT	p.G532G	ACSL3_uc002vnj.3_Silent_p.G532G	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	532					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTATTGGGGGCCAAAGTGTGA	0.363000			T	ETV1	prostate									31			18		0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138633243	138633243	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:138633243T>A	uc004fas.1	+	5	572	c.543T>A	c.(541-543)gtT>gtA	p.V181V	F9_uc004fat.1_Silent_p.V143V	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	181					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GTGGAAGAGTTTCTGTTTCAC	0.348000														17			28		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159654630	159654630	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:159654630C>T	uc010kjv.3	+	10	3286	c.3086C>T	c.(3085-3087)tCc>tTc	p.S1029F	FNDC1_uc010kjw.1_Missense_Mutation_p.S914F	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1029						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGGTCACCTTCCCAGCCCAGG	0.736000														5			4		0	0	1	0	0
PYGO1	26108	broad.mit.edu	37	15	55839150	55839150	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:55839150G>A	uc002adf.1	-	2	331	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S	PYGO1_uc010bfl.1_Missense_Mutation_p.P111S	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.	111	Pro-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		ATTCTTGGGGGAACGTGAGGT	0.473000														133			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167176	140167176	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140167176C>T	uc003lhb.2	+	0	1301	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	PCDHAC2_uc003lha.2_Missense_Mutation_p.S434L|PCDHAC2_uc003lgz.3_Missense_Mutation_p.S434L	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	448	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)			GGCTCGCCTTCGCTGTGGGCC	0.627000														151			48		0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67680152	67680152	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67680152G>A	uc002etn.3	+	4	433	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	RLTPR_uc010cel.1_Missense_Mutation_p.E105K|RLTPR_uc010vjr.2_Missense_Mutation_p.E105K	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	105										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGCCGCCCTGGAACAGCTGGC	0.637000														22			15		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42368140	42368140	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:42368140G>A	uc001wvm.3	+	4	3317	c.2119G>A	c.(2119-2121)Gac>Aac	p.D707N	LRFN5_uc010ana.3_3'UTR	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	707						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GACTAATGTTGACCAGATTGT	0.284000										HNSCC(30;0.082)				132			19		0	0	1	0	0
TPST2	8459	broad.mit.edu	37	22	26936880	26936880	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26936880C>T	uc003acw.3	-	2	1058	c.717G>A	c.(715-717)gaG>gaA	p.E239E	TPST2_uc003acx.3_Silent_p.E239E|TPST2_uc011akf.1_Silent_p.E239E	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	239					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						GCACCAGCTGCTCGTAGTACA	0.597000														51			18		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42279563	42279563	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42279563C>T	uc021sjp.1	-	16	1842	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	PLA2G4E_uc010udc.2_Silent_p.P57P|PLA2G4E_uc001zov.2_Silent_p.P238P	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	602	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CAGGCAGGATCGGCTCGTCTT	0.562000														24			10		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559623	44559623	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:44559623C>T	uc002lcr.1	-	0	2366	c.2013G>A	c.(2011-2013)gaG>gaA	p.E671E	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	671					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGGCTTGATCTCCCCATTTT	0.582000														96			35		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121326189	121326189	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:121326189G>A	uc003yox.3	+	37	4739	c.4474G>A	c.(4474-4476)Ggt>Agt	p.G1492S	COL14A1_uc003yoz.3_Missense_Mutation_p.G457S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1492	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGGCCCTCGGGGTGAAATTGG	0.473000														157			39		0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367139	105367139	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:105367139C>T	uc003ylx.1	+	2	1113	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	355					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CATGATTCTTCCTTTAATATA	0.333000														44			16		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15686188	15686188	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15686188C>T	uc001ioc.1	-	12	1240	c.1240G>A	c.(1240-1242)Gat>Aat	p.D414N	ITGA8_uc010qcb.1_Missense_Mutation_p.D399N	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	414					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCTCTTTGATCCTTGCCTGCA	0.398000														32			21		0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52698736	52698736	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52698736C>T	uc010snq.2	+	4	793	c.660C>T	c.(658-660)ctC>ctT	p.L220L	KRT86_uc009zmg.3_Silent_p.L220L|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Silent_p.L220L	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	220	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGCCTACCTCCGCAAATCAG	0.597000														187			46		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124750348	124750348	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124750348C>T	uc001qbc.3	+	26	4162	c.3993C>T	c.(3991-3993)ttC>ttT	p.F1331F	ROBO3_uc001qbd.2_Silent_p.F256F|ROBO3_uc010sar.2_Silent_p.F380F|ROBO3_uc001qbe.3_Silent_p.F256F|ROBO3_uc001qbf.1_Silent_p.F215F	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	1331					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GACCAAGCTTCCTGTCCCGGG	0.662000														21			7		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36158063	36158063	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:36158063C>T	uc021rid.1	+	45	7598	c.7064C>T	c.(7063-7065)gCt>gTt	p.A2355V	NBEA_uc021ric.1_Missense_Mutation_p.A2352V|NBEA_uc010abi.3_Missense_Mutation_p.A1011V|NBEA_uc010tee.1_Missense_Mutation_p.A148V|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.A148V|NBEA_uc010teg.1_Missense_Mutation_p.A148V	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2355	BEACH.					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)		CCCAAGAGAGCTGTGTTTTAT	0.333000														92			21		0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98209632	98209632	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:98209632G>A	uc004avk.4	-	22	4094	c.3906C>T	c.(3904-3906)ccC>ccT	p.P1302P	PTCH1_uc010mrn.3_Silent_p.P94P|PTCH1_uc010mro.3_Silent_p.P1151P|PTCH1_uc010mrp.3_Silent_p.P1151P|PTCH1_uc010mrq.3_Silent_p.P1151P|PTCH1_uc004avl.4_Silent_p.P1151P|PTCH1_uc004avm.4_Silent_p.P1301P|PTCH1_uc010mrr.3_Silent_p.P1236P	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1302					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.P1302H(4)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGTCCCTGCGGGGCTGCTGGC	0.632000														69			27		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30971164	30971164	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:30971164C>T	uc002yno.1	-	7	1656	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	GRIK1_uc002ynn.3_Missense_Mutation_p.E398K|GRIK1_uc011acs.2_Missense_Mutation_p.E398K|GRIK1_uc011act.2_Missense_Mutation_p.E342K|GRIK1_uc010glq.1_Missense_Mutation_p.E256K|GRIK1_uc002ynr.3_Missense_Mutation_p.E398K|GRIK1-AS2_uc002ynp.1_Intron	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	398					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCAGTTCCTTCCTCTTTGAGA	0.368000														84			32		0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994845	11994845	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:11994845C>T	uc003wvc.1	-	0	1425	c.1425G>A	c.(1423-1425)atG>atA	p.M475I	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	475					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GATGGTTTTTCATCCCACACT	0.493000														15			24		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220348138	220348138	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220348138G>A	uc010fwg.3	+	29	5953	c.5953G>A	c.(5953-5955)Gag>Aag	p.E1985K		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1985					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCAGGACCAGGAGGCTCCCAG	0.711000														8			4		0	0	1	0	0
O3FAR1	338557	broad.mit.edu	37	10	95347184	95347184	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95347184C>T	uc010qnt.2	+	3	1008	c.952C>T	c.(952-954)Ctc>Ttc	p.L318F	O3FAR1_uc010qnu.2_Missense_Mutation_p.L302F	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	318					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding			breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						CTGGCCGTCCCTCTTCTTCTG	0.488000														255			60		0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133698359	133698359	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:133698359C>T	uc003eqa.4	-	1	474	c.200G>A	c.(199-201)aGt>aAt	p.S67N	SLCO2A1_uc011blv.2_Missense_Mutation_p.S67N|SLCO2A1_uc010htw.1_5'UTR	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	67					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CGATGAAGAACTGGAGAGCCC	0.547000														109			41		0	0	1	0	0
SNX24	28966	broad.mit.edu	37	5	122343382	122343382	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:122343382C>T	uc011cwo.2	+	6	617	c.448C>T	c.(448-450)Cca>Tca	p.P150S	SNX24_uc010jcy.3_3'UTR	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	Homo sapiens sorting nexin 24 (SNX24), mRNA.	150					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		ttCAGATTTTCCAAATGTGGT	0.333000														79			39		0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080324	70080324	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:70080324C>T	uc003heh.3	-	0	126	c.117G>A	c.(115-117)atG>atA	p.M39I	AK124272_uc003hei.1_Non-coding_Transcript	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	39					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						GGATTGTCTTCATATTCATCC	0.443000														259			99		0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79760663	79760663	+	Silent	SNP	C	T	T	rs151300850	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:79760663C>T	uc002bew.1	+	3	2763	c.2688C>T	c.(2686-2688)atC>atT	p.I896I	KIAA1024_uc010unk.1_3'UTR	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	896						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CTGCTCTGATCGCTGCTGCGG	0.458000														42			9		0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40301883	40301883	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40301883C>T	uc001zkm.1	+	25	3695	c.3645C>T	c.(3643-3645)atC>atT	p.I1215I	EIF2AK4_uc010bbj.1_Silent_p.I916I|EIF2AK4_uc001zkn.1_Silent_p.I315I|EIF2AK4_uc001zko.1_Silent_p.I153I|EIF2AK4_uc010bbk.1_Non-coding_Transcript	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	1215	Histidyl-tRNA synthetase-like.				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)		ACTGTGGGATCCCAGAAGATA	0.313000														89			48		0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254511	30254511	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:30254511C>T	uc022bug.1	+	0	470	c.470C>T	c.(469-471)tCt>tTt	p.S157F	MAGEB3_uc004dca.2_Missense_Mutation_p.S157F	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	157	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AAAAAAGCTTCTTTCAACATG	0.373000														20			52		0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38110573	38110573	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:38110573C>T	uc003xlc.3	+	14	2019	c.1819C>T	c.(1819-1821)Cct>Tct	p.P607S	DDHD2_uc003xlb.3_Missense_Mutation_p.P607S|DDHD2_uc003xld.3_Missense_Mutation_p.P226S	NM_001164232	NP_056029	O94830	DDHD2_HUMAN	Homo sapiens DDHD domain containing 2 (DDHD2), transcript variant 2, mRNA.	607	DDHD.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AGCTCCATACCCTGCCTTACA	0.483000														65			7		0	0	1	0	0
RNF38	152006	broad.mit.edu	37	9	36352839	36352839	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:36352839G>A	uc003zzh.3	-	7	1269	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S	RNF38_uc003zzi.3_Missense_Mutation_p.P310S|RNF38_uc003zzj.3_Missense_Mutation_p.P277S|RNF38_uc003zzk.3_Missense_Mutation_p.P277S|RNF38_uc003zzl.3_Missense_Mutation_p.P284S|RNF38_uc003zzm.3_Missense_Mutation_p.P277S	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA.	360	Pro-rich.						zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			ATAAATGGAGGATAAGGCTGC	0.403000														31			5		0	0	1	0	0
TAS2R8	50836	broad.mit.edu	37	12	10958981	10958981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10958981G>A	uc010shh.2	-	0	599	c.599C>T	c.(598-600)tCa>tTa	p.S200L		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	Homo sapiens taste receptor, type 2, member 8 (TAS2R8), mRNA.	200					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAGGAAAAATGATATCAGTGA	0.378000														66			42		0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240016749	240016749	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:240016749G>A	uc002vyk.4	-	16	3014	c.2222C>T	c.(2221-2223)tCg>tTg	p.S741L	HDAC4_uc010fyz.1_Missense_Mutation_p.S736L|HDAC4_uc010zoa.1_Missense_Mutation_p.S741L|HDAC4_uc010fza.2_Missense_Mutation_p.S746L|HDAC4_uc010fyy.3_Missense_Mutation_p.S698L|HDAC4_uc010znz.1_Missense_Mutation_p.S624L	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	741	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.S741S(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGAGGCGAGCGAGCCTGTGGG	0.617000														111			42		0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16170511	16170511	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:16170511C>T	uc004cxj.3	+	2	1551	c.898C>T	c.(898-900)Cac>Tac	p.H300Y		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	300					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTCCATGCTCCACTTTGTCAC	0.562000														88			77		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166964517	166964517	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:166964517G>A	uc003irh.2	+	11	2117	c.1470G>A	c.(1468-1470)tgG>tgA	p.W490*	TLL1_uc011cjn.2_Nonsense_Mutation_p.W490*|TLL1_uc011cjo.2_Nonsense_Mutation_p.W314*	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	490	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)		AATGTGTGTGGAAAATAACAG	0.433000														152			61		0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197765482	197765482	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:197765482C>T	uc010iar.3	+	16	2045	c.2023C>T	c.(2023-2025)Ctg>Ttg	p.L675L	LMLN_uc003fyt.3_Silent_p.L623L|LMLN_uc011buo.2_Silent_p.L638L|LMLN_uc010ias.3_Silent_p.L586L|LMLN_uc003fyu.3_Silent_p.L435L	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.	638					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CCTCTGGCTTCTGCTAGGCAA	0.393000														91			25		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23410682	23410682	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:23410682C>T	uc004dal.4	+	2	1055	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	349	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AAATGTTATCCTCCTGGAGGA	0.418000														11			28		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23197734	23197734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23197734C>T	uc002dlm.1	+	1	281	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	48					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CGTGGTGTCCCGCGGCCGTCT	0.637000														46			10		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21991358	21991358	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21991358G>A	uc001wbe.3	-	1	2786	c.2504C>T	c.(2503-2505)tCt>tTt	p.S835F	SALL2_uc010tly.2_Missense_Mutation_p.S833F|SALL2_uc010tlz.1_Missense_Mutation_p.S698F|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.S700F|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	835							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGGCAAAGAAGACTGTTGAGT	0.567000														69			12		0	0	1	0	0
DKK4	27121	broad.mit.edu	37	8	42233236	42233236	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:42233236C>T	uc003xpb.3	-	1	335	c.224G>A	c.(223-225)cGa>cAa	p.R75Q		NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	Homo sapiens dickkopf homolog 4 (Xenopus laevis) (DKK4), mRNA.	75	DKK-type Cys-1.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of Wnt receptor signaling pathway	extracellular region		p.R75Q(2)		NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CATGGCATCTCGCTGGCACCT	0.552000														62			11		0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134256405	134256405	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:134256405G>A	uc011kpr.2	+	5	784	c.485G>A	c.(484-486)gGa>gAa	p.G162E		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	162							oxidoreductase activity	p.G134V(1)|p.G134E(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						ATGATCAGTGGAAAAGGAACG	0.418000														126			26		0	0	1	0	0
ARMCX5-GPRASP2	100528062	broad.mit.edu	37	X	101970347	101970347	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:101970347C>T	uc022cbh.1	+	0	550	c.550C>T	c.(550-552)Cct>Tct	p.P184S	ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.P184S|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.P184S|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.P184S|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.P184S|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.P184S|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.P184S|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.P184S	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	184						cytoplasm	protein binding										TGAAACCTTTCCTGGCACCCA	0.532000														43			78		0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94909498	94909498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94909498G>A	uc001ydd.1	-	3	1042	c.982C>T	c.(982-984)Ccc>Tcc	p.P328S		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	328					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CCAATTTGGGGAAGTATGTCT	0.438000														88			33		0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59610056	59610056	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59610056C>T	uc001noi.3	-	4	419	c.371_splice	c.e4-1	p.S124_splice	GIF_uc010rkz.1_3'UTR	NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	124					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						AGCGTTGGGGCCTCCGAAGGG	0.517000														46			22		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21255406	21255406	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21255406G>A	uc002red.3	-	9	1300	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	391	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATGTGAGTGGAGCACTGAGG	0.527000														48			18		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21265245	21265245	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21265245C>T	uc002red.3	-	2	353	c.225G>A	c.(223-225)agG>agA	p.R75R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	75	Heparin-binding.|Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCAGTTGATCCTGGTGGCAC	0.587000														89			34		0	0	1	0	0
B3GALTL	145173	broad.mit.edu	37	13	31835147	31835147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:31835147C>T	uc010aaz.3	+	6	634	c.524C>T	c.(523-525)tCc>tTc	p.S175F	B3GALTL_uc001utn.4_Non-coding_Transcript	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA.	175					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.S175S(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TATGCCTTTTCCGAGAATCCT	0.343000														58			14		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16877459	16877460	+	Splice_Site	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:16877459_16877460GG>AA	uc010rcu.1	-	5	321	c.306_splice	c.e5-1	p.E102_splice	PLEKHA7_uc001mmo.3_Splice_Site_p.E102_splice	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	102					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						ATGTGGATTCGGCCTGTGAGGA	0.535000														160			55		0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27516538	27516538	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:27516538G>A	uc003xga.1	+	4	992	c.851G>A	c.(850-852)gGg>gAg	p.G284E	SCARA3_uc003xgb.1_Missense_Mutation_p.G284E	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	284					UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GCCACCCTGGGGGCCTCCTCA	0.597000														32			14		0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61877952	61877952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61877952C>T	uc002jbu.3	+	6	853	c.596C>T	c.(595-597)cCt>cTt	p.P199L	DDX42_uc002jbv.3_Missense_Mutation_p.P199L|DDX42_uc002jbw.1_5'UTR	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	199					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						ATCATTGATCCTCTTCCCCCC	0.388000														119			58		0	0	1	0	0
CST4	1472	broad.mit.edu	37	20	23667824	23667824	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:23667824C>T	uc002wto.1	-	1	299	c.243G>A	c.(241-243)gtG>gtA	p.V81V		NM_001899	NP_001890	P01036	CYTS_HUMAN	Homo sapiens cystatin S (CST4), mRNA.	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					AGAAGTAATTCACCCCCCCAA	0.557000														184			49		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51287566	51287566	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:51287566G>A	uc003tps.3	-	1	302	c.117C>T	c.(115-117)ccC>ccT	p.P39P	COBL_uc003tpr.4_Silent_p.P39P|COBL_uc011kcl.2_Silent_p.P39P|COBL_uc010kzc.3_Silent_p.P39P|COBL_uc003tpt.3_Silent_p.P39P	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	39										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CATCGTGGGGGGGCTTCTGGT	0.607000														58			25		0	0	1	0	0
RAB2B	84932	broad.mit.edu	37	14	21930572	21930572	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21930572G>A	uc010tlt.2	-	6	581	c.480C>T	c.(478-480)ttC>ttT	p.F160F	RAB2B_uc010tls.2_Silent_p.F114F|RAB2B_uc010ain.3_Silent_p.F51F|RAB2B_uc001wax.3_Silent_p.F95F	NM_032846	NP_001156852	Q8WUD1	RAB2B_HUMAN	Homo sapiens RAB2B, member RAS oncogene family (RAB2B), transcript variant 1, mRNA.	160					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|plasma membrane	GTP binding			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		CTGTGTTAATGAAGGCCTGAA	0.358000														107			42		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43945658	43945658	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:43945658C>T	uc010skx.2	-	0	67	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	23						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)		AAGTCAACTTCCCAAGACCTG	0.652000														83			22		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48652918	48652918	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48652918C>T	uc002irk.1	+	7	1527	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	CACNA1G_uc002iri.1_Silent_p.F385F|CACNA1G_uc002irj.1_Silent_p.F385F|CACNA1G_uc002irl.1_Silent_p.F385F|CACNA1G_uc002irm.1_Silent_p.F385F|CACNA1G_uc002irn.1_Silent_p.F385F|CACNA1G_uc002iro.1_Silent_p.F385F|CACNA1G_uc002irp.1_Silent_p.F385F|CACNA1G_uc002irq.1_Silent_p.F385F|CACNA1G_uc002irr.1_Silent_p.F385F|CACNA1G_uc002irs.1_Silent_p.F385F|CACNA1G_uc002irt.1_Silent_p.F385F|CACNA1G_uc002iru.1_Silent_p.F385F|CACNA1G_uc002irv.1_Silent_p.F385F|CACNA1G_uc002irw.1_Silent_p.F385F|CACNA1G_uc002irx.1_Silent_p.F298F|CACNA1G_uc002iry.1_Silent_p.F298F|CACNA1G_uc002isg.1_Silent_p.F298F|CACNA1G_uc002ish.1_Silent_p.F298F|CACNA1G_uc002isi.1_Silent_p.F298F|CACNA1G_uc002irz.1_Silent_p.F298F|CACNA1G_uc002isa.1_Silent_p.F298F|CACNA1G_uc002isd.1_Silent_p.F298F|CACNA1G_uc002isb.1_Silent_p.F298F|CACNA1G_uc002isc.1_Silent_p.F298F|CACNA1G_uc002ise.1_Silent_p.F298F|CACNA1G_uc002isf.1_Silent_p.F298F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	385					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTCCTTCTTCATGATCAACC	0.552000														26			13		0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127958729	127958729	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:127958729G>A	uc002tod.2	-	2	488	c.357C>T	c.(355-357)ttC>ttT	p.F119F	CYP27C1_uc021vnn.1_Silent_p.F119F	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	119						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		AGGACCTGCAGAATTCCCGCC	0.522000														187			12		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57757027	57757027	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:57757027C>T	uc002emi.3	+	10	1611	c.1522C>T	c.(1522-1524)Ccc>Tcc	p.P508S	CCDC135_uc002emj.3_Missense_Mutation_p.P508S|CCDC135_uc002emk.3_Missense_Mutation_p.P443S	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	508						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GCCTGGCCACCCCCAGGCTCT	0.597000														111			24		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43918846	43918846	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:43918846G>A	uc001uza.4	-	8	1164	c.864C>T	c.(862-864)tcC>tcT	p.S288S	ENOX1_uc001uzc.4_Silent_p.S288S|ENOX1_uc001uzb.4_Silent_p.S288S|ENOX1_uc010tfm.1_Silent_p.S101S	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	288					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GTTCAATCCAGGAAAGCAGCA	0.458000														104			18		0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18643341	18643341	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:18643341G>A	uc004cym.3	+	16	2723	c.2470G>A	c.(2470-2472)Gag>Aag	p.E824K	CDKL5_uc004cyn.3_Missense_Mutation_p.E824K|CDKL5_uc022btn.1_Missense_Mutation_p.E815K	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	824					neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GTGGCGCCCCGAGAAGATCTC	0.547000														42			66		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105261008	105261008	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:105261008G>A	uc003yls.3	+	24	3851	c.3610G>A	c.(3610-3612)Gtg>Atg	p.V1204M	RIMS2_uc003ylp.3_Missense_Mutation_p.V1186M|RIMS2_uc003ylw.2_Missense_Mutation_p.V1193M|RIMS2_uc003ylq.3_Missense_Mutation_p.V1000M|RIMS2_uc003ylr.3_Missense_Mutation_p.V1025M	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1248					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)			TGCTCAGCTAGTGGGACGCCA	0.428000										HNSCC(12;0.0054)				52			21		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50265441	50265441	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50265441G>A	uc002ppm.3	-	1	230	c.219C>T	c.(217-219)ctC>ctT	p.L73L		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	73							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGGACCGTTTGAGGTTCAGGC	0.612000														33			9		0	0	1	0	0
MIXL1	83881	broad.mit.edu	37	1	226413318	226413318	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:226413318G>A	uc010pvm.2	+	1	504	c.504G>A	c.(502-504)acG>acA	p.T168T		NM_031944	NP_114150	Q9H2W2	MIXL1_HUMAN	Homo sapiens Mix paired-like homeobox (MIXL1), mRNA.	168					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		GAACTGAAACGAAATGTCTGA	0.557000														70			37		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184295503	184295503	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:184295503C>T	uc003foz.3	+	6	1974	c.1537C>T	c.(1537-1539)Ctt>Ttt	p.L513F		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	513	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G512A(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCTGGACGGGCTTCGGCCTGA	0.642000														93			34		0	0	1	0	0
VSTM1	284415	broad.mit.edu	37	19	54554694	54554694	+	Missense_Mutation	SNP	C	T	T	rs147285202	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54554694C>T	uc002qcw.4	-	3	540	c.364G>A	c.(364-366)Gat>Aat	p.D122N	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Missense_Mutation_p.D34N|VSTM1_uc002qcx.4_Missense_Mutation_p.D122N|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Intron	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	122						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCAAGTTCATCGTGTTTATCT	0.393000														27			14		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43773519	43773519	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:43773519G>A	uc001ciu.3	+	6	1143	c.966G>A	c.(964-966)caG>caA	p.Q322Q	TIE1_uc010okd.2_Silent_p.Q322Q|TIE1_uc010oke.2_Silent_p.Q277Q|TIE1_uc009vwq.3_Silent_p.Q278Q|TIE1_uc010okf.1_Intron|TIE1_uc010okg.2_Intron|TIE1_uc010okc.2_Intron	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	322	EGF-like 3.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCAGTGTCAGAATGGTGGCA	0.547000														57			21		0	0	1	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46101961	46101961	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46101961G>A	uc002zfv.3	-	0	118	c.78C>T	c.(76-78)atC>atT	p.I26I	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181686	NP_859014	P59990	KR121_HUMAN	Homo sapiens keratin associated protein 12-1 (KRTAP12-1), mRNA.	26	14 X 5 AA approximate repeats.					keratin filament				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						AGCCCACGGGGATGTAACAGG	0.667000														95			8		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100141898	100141898	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:100141898C>T	uc001pga.3	+	17	2743	c.2239C>T	c.(2239-2241)Cga>Tga	p.R747*	CNTN5_uc001pfz.3_Nonsense_Mutation_p.R747*|CNTN5_uc021qpb.1_Nonsense_Mutation_p.R747*|CNTN5_uc021qpc.1_Nonsense_Mutation_p.R673*|CNTN5_uc010ruk.2_Nonsense_Mutation_p.R18*	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	747	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.F746F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATATGAATTTCGAGTGGTAGC	0.458000														53			20		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033732	82033732	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:82033732C>T	uc002fgu.3	-	2	294	c.166G>A	c.(166-168)Gga>Aga	p.G56R		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	56					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CGGATGTCTCCTTGTATAAAC	0.502000														149			16		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102476636	102476636	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:102476636C>T	uc001yks.2	+	30	6409	c.6245C>T	c.(6244-6246)tCc>tTc	p.S2082F		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2082	AAA 1 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.S2082S(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGCTCTCTTCCCAAAGCCAT	0.408000														89			18		0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113935433	113935433	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:113935433A>T	uc009xxy.2	-	5	548	c.338T>A	c.(337-339)cTt>cAt	p.L113H	GPAM_uc001kzp.3_Missense_Mutation_p.L113H|GPAM_uc001kzq.1_Missense_Mutation_p.L113H	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	113					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TTGAATAAAAAGAACGTAAGA	0.443000														89			40		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117810748	117810748	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117810748G>A	uc004bjj.4	-	15	5055	c.4643C>T	c.(4642-4644)tCc>tTc	p.S1548F	TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1548	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGCCATCCAGGAAACTGTGAA	0.502000														40			9		0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5540286	5540286	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:5540286G>A	uc003soo.2	-	2	1708	c.1614C>T	c.(1612-1614)ctC>ctT	p.L538L	FBXL18_uc003son.4_Silent_p.L538L	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	538								p.L538F(1)	FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCAGCTGTGCGAGCGTCAGGT	0.687000														19			11		0	0	1	0	0
HERC2P2	400322	broad.mit.edu	37	15	23285498	23285498	+	RNA	SNP	T	A	A	rs116993237	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:23285498T>A	uc001yvq.2	-	10		c.2417A>T			HERC2P2_uc001yvo.4_Intron|HERC2P2_uc001yvp.4_Intron					Homo sapiens hect domain and RLD 2 pseudogene 2 (HERC2P2), non-coding RNA.																		CGTCACAGTGTGCGTGCTTGT	0.572000														42			4		0	0	1	0	0
FAM26D	221301	broad.mit.edu	37	6	116879329	116879329	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:116879329G>A	uc003pxa.3	+	3	770	c.471G>A	c.(469-471)gaG>gaA	p.E157E	FAM26D_uc003pwz.3_Silent_p.E114E|FAM26D_uc010ked.3_Silent_p.E156E|FAM26D_uc021zed.1_Silent_p.E114E	NM_153036	NP_694581	Q5JW98	FA26D_HUMAN	Homo sapiens family with sequence similarity 26, member D (FAM26D), mRNA.	300						integral to membrane				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		GGGTGGATGAGGATAATGAGG	0.408000														62			16		0	0	1	0	0
CALU	813	broad.mit.edu	37	7	128399014	128399014	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128399014C>T	uc022ald.1	+	4	1472	c.529C>T	c.(529-531)Ctc>Ttc	p.L177F	CALU_uc022alg.1_Missense_Mutation_p.L95F|CALU_uc022alh.1_Missense_Mutation_p.L95F|CALU_uc022ali.1_Missense_Mutation_p.L17F|CALU_uc003vns.3_Missense_Mutation_p.L169F|CALU_uc003vnr.3_Missense_Mutation_p.L177F|CALU_uc003vnq.3_Missense_Mutation_p.L169F|CALU_uc022ale.1_Missense_Mutation_p.L169F|CALU_uc022alf.1_Missense_Mutation_p.L18F	NM_001199672	NP_001186601	O43852	CALU_HUMAN	Homo sapiens calumenin (CALU), transcript variant 4, mRNA.	169	EF-hand 3.				platelet activation|platelet degranulation	Golgi apparatus|extracellular region|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						GGATGGAGACCTCATTGCCAC	0.428000														215			84		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177063141	177063141	+	Nonsense_Mutation	SNP	C	T	T	rs142589281		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:177063141C>T	uc003iuj.3	+	11	1825	c.1522C>T	c.(1522-1524)Cga>Tga	p.R508*	WDR17_uc003ium.4_Nonsense_Mutation_p.R484*|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	508										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TAGTATTATTCGAACAATTGA	0.274000														89			44		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82837712	82837712	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:82837712G>A	uc003kii.3	+	7	9246	c.8890G>A	c.(8890-8892)Gat>Aat	p.D2964N	VCAN_uc003kij.3_Missense_Mutation_p.D1977N|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.D1628N	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2964	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TACAACTGCCGATGAAATTGA	0.463000														147			61		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18725439	18725439	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:18725439G>A	uc003wza.3	-	3	1482	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	460					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TGTCTCCAGGGACTCTGCACT	0.458000														91			42		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411529	126411529	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126411529C>T	uc003ifj.4	+	16	13552	c.13552C>T	c.(13552-13554)Ctc>Ttc	p.L4518F	FAT4_uc011cgp.2_Missense_Mutation_p.L2759F|FAT4_uc003ifi.1_Missense_Mutation_p.L1995F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4518					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CGTCTTGGCCCTCCTGGTCCT	0.557000														45			21		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722323	58722323	+	Silent	SNP	G	A	A	rs7478799		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:58722323G>A	uc001nnh.2	+	4	410	c.360G>A	c.(358-360)ttG>ttA	p.L120L	GLYATL1_uc001nnf.3_Silent_p.L89L|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Silent_p.L89L|GLYATL1_uc001nnj.2_Silent_p.L89L	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	89						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AAGAAGTTTTGAAAAATTGTG	0.383000														50			25		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906248	164906248	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:164906248G>A	uc003fej.4	-	1	2815	c.2371C>T	c.(2371-2373)Ctc>Ttc	p.L791F	SLITRK3_uc003fek.3_Missense_Mutation_p.L791F|SLITRK3_uc021xgy.1_Missense_Mutation_p.L791F	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	791						integral to membrane		p.L791I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTTCCTAGGAGAGCCTCACCC	0.572000										HNSCC(40;0.11)				78			39		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178418886	178418886	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178418886G>A	uc003mjr.3	-	1	882	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	235					detection of visible light|visual perception	integral to plasma membrane		p.V234I(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGGGAGATCTGAACGAAGGCC	0.617000														26			11		0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31606074	31606075	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31606074_31606075CC>TT	uc002wyj.3	+	7	781_782	c.587_588CC>TT	c.(586-588)ccc>cTT	p.P196L		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	196						extracellular region	lipid binding										GGCCTCAACCCCGTGGGTCCTG	0.480000														73			18		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55973911	55973911	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:55973911C>T	uc003has.3	-	9	1707	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	KDR_uc003hat.1_Missense_Mutation_p.E469K|KDR_uc011bzx.2_Missense_Mutation_p.E469K	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	469	Ig-like C2-type 5.				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			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)	CACCTGGGCTCGTTGGCGCAC	0.512000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				66			27		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221131	161221131	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:161221131C>T	uc011bpb.2	+	3	835	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	279	Collagen-like 3.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CAAAAGCGGCCGTAATGGTCT	0.537000														8			6		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886058	88886058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:88886058C>T	uc003ydz.3	-	0	239	c.142G>A	c.(142-144)Gag>Aag	p.E48K		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	48										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACACGCAGCTCGCGAGCTATA	0.502000														78			28		0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18707512	18707512	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18707512G>A	uc010ebt.2	-	5	1138	c.944C>T	c.(943-945)cCc>cTc	p.P315L		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	315	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GATGCCAAAGGGGTTGCAGCG	0.637000														34			7		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119540121	119540121	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:119540121C>T	uc001txa.2	+	1	600	c.212C>T	c.(211-213)cCc>cTc	p.P71L		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	71					RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GCCACCGAGCCCTTGGGCACC	0.542000														32			9		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814304	106814304	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:106814304G>A	uc003ymd.3	+	7	2017	c.1994G>A	c.(1993-1995)gGa>gAa	p.G665E	ZFPM2_uc011lhs.2_Missense_Mutation_p.G396E	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	665					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAAATTAATGGAAAACCTGTT	0.433000														30			8		0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202861773	202861773	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:202861773G>A	uc001gyo.1	-	11	1795	c.1595C>T	c.(1594-1596)tCc>tTc	p.S532F	KLHL12_uc001gym.1_Missense_Mutation_p.P203S|KLHL12_uc001gyn.1_Missense_Mutation_p.P320S|KLHL12_uc010pqc.1_Missense_Mutation_p.S570F	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.	532	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			ACTTAGCAGGGAATTACCATC	0.488000														58			14		0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	192078283	192078283	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:192078283C>T	uc003fsx.3	-	1	1070	c.244G>A	c.(244-246)Gga>Aga	p.G82R	FGF12_uc003fsy.3_Missense_Mutation_p.G20R	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	82					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AGGAAGTATCCCTGCTGGCTG	0.398000														61			28		0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231077635	231077635	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:231077635G>A	uc002vqg.3	-	3	664	c.424C>T	c.(424-426)Cca>Tca	p.P142S	SP110_uc002vqh.3_Missense_Mutation_p.P142S|SP110_uc002vqi.4_Missense_Mutation_p.P142S|SP110_uc010fxk.3_Missense_Mutation_p.P142S|SP110_uc021vxx.1_Missense_Mutation_p.P148S	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	142					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		GGGGGTTGTGGTGGGGGCAGC	0.577000														120			35		0	0	1	0	0
GRB2	2885	broad.mit.edu	37	17	73322082	73322082	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73322082G>A	uc002jnx.4	-	3	554	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S	GRB2_uc002jny.4_Intron	NM_002086	NP_002077	P62993	GRB2_HUMAN	Homo sapiens growth factor receptor-bound protein 2 (GRB2), transcript variant 1, mRNA.	66	SH2.				Ras protein signal transduction|T cell costimulation|axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|receptor internalization|signal transduction in response to DNA damage	Golgi apparatus|cytosol	SH3/SH2 adaptor activity|epidermal growth factor receptor binding|insulin receptor substrate binding			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TTGGCTCTGGGGATTTTGCCA	0.507000														77			34		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113085149	113085149	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113085149C>T	uc021qqp.1	+	7	1341	c.969C>T	c.(967-969)gtC>gtT	p.V323V	NCAM1_uc001pno.3_Silent_p.V207V|NCAM1_uc001pnp.3_Silent_p.V323V|NCAM1_uc021qqo.1_Silent_p.V323V|NCAM1_uc001pnq.3_Silent_p.V323V|NCAM1_uc001pnr.3_Silent_p.V323V	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	325	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGAGCAGGTCACTCTTACCT	0.458000														21			8		0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65325929	65325929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:65325929G>A	uc001dbu.1	-	8	1442	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	JAK1_uc009wam.1_Missense_Mutation_p.S398F	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	398	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CTCCTCGTGGGAAGAGAGCTT	0.542000			Mis		ALL									52			18		0	0	1	0	0
ABCD3	5825	broad.mit.edu	37	1	94964161	94964161	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94964161C>T	uc010oto.2	+	17	1564	c.1462C>T	c.(1462-1464)Cga>Tga	p.R488*	ABCD3_uc001dqn.4_Nonsense_Mutation_p.R464*|ABCD3_uc010otp.2_Nonsense_Mutation_p.R391*|ABCD3_uc009wdr.3_Nonsense_Mutation_p.R354*|ABCD3_uc001dqo.4_Nonsense_Mutation_p.R152*	NM_002858	NP_002849	P28288	ABCD3_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.	464	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTTTCAGGTTCGATCTGGGGC	0.338000														59			12		0	0	1	0	0
CHRNA7	1139	broad.mit.edu	37	15	32404046	32404046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:32404046C>T	uc021sic.1	+	3	490	c.383C>T	c.(382-384)aCt>aTt	p.T128I	CHRNA7_uc010bad.2_Non-coding_Transcript|CHRNA7_uc010bab.2_Missense_Mutation_p.T99I|CHRNA7_uc010bac.2_Missense_Mutation_p.T99I|CHRNA7_uc010bae.2_Intron|CHRNA7_uc001zft.3_Missense_Mutation_p.T99I|CHRNA7_uc010baf.3_Intron|CHRNA7_uc010bag.1_Non-coding_Transcript|CHRNA7_uc010bah.1_Non-coding_Transcript|CHRNA7_uc010bai.1_Non-coding_Transcript|CHRNA7_uc010baj.1_5'Flank|CHRNA7_uc010bak.3_5'Flank	NM_001190455	NP_683709	P36544	ACHA7_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 7 (CHRNA7), transcript variant 2, mRNA.	99					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	GGGGTGAAGACTGTTCGTTTC	0.403000														127			49		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130293171	130293171	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130293171G>A	uc010htl.3	+	6	3380	c.3349G>A	c.(3349-3351)Gag>Aag	p.E1117K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1117	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTCCCAAGACGAGGTGGCCCA	0.577000														59			18		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41497234	41497234	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41497234C>T	uc002opr.1	+	0	31	c.24C>T	c.(22-24)ttC>ttT	p.F8F	CYP2A7_uc002opo.3_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	8					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TCCTCCTCTTCCTTGCACTCC	0.622000														184			71		0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165749672	165749672	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:165749672G>A	uc003qun.3	-	21	2422	c.2177C>T	c.(2176-2178)cCc>cTc	p.P726L	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.P656L|PDE10A_uc003quo.3_Missense_Mutation_p.P736L	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	726					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TGTATAGCAGGGAATGGCCAC	0.443000														17			9		0	0	1	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767608	143767608	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:143767608C>A	uc001ejt.3	-	0	274	c.241G>T	c.(241-243)Gag>Tag	p.E81*		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	81	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						TCAAATTTCTCCCCATAGATG	0.453000														245			63		3.58576e-35	3.60826e-35	1	1	0
HTR3E	285242	broad.mit.edu	37	3	183823084	183823084	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183823084G>A	uc010hxr.3	+	3	861	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	HTR3E_uc010hxq.3_Missense_Mutation_p.E197K|HTR3E_uc003fml.4_Missense_Mutation_p.E182K|HTR3E_uc003fmm.3_Missense_Mutation_p.E212K|HTR3E_uc003fmn.3_Missense_Mutation_p.E197K	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	197						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CATGGAGAAAGAAGTGTGGGA	0.498000														46			16		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	981129	981129	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:981129C>T	uc001ack.2	+	14	2603	c.2553C>T	c.(2551-2553)ccC>ccT	p.P851P		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	851	Laminin EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCTGTGATCCCCAAGGCGCCG	0.657000														81			27		0	0	1	0	0
SLC22A13	9390	broad.mit.edu	37	3	38317409	38317410	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38317409_38317410CC>TT	uc003chz.3	+	6	1113_1114	c.1059_1060CC>TT	c.(1057-1062)ctccaa>ctTTaa	p.Q354*	SLC22A13_uc011aym.1_Non-coding_Transcript|SLC22A13_uc011ayn.1_Nonsense_Mutation_p.Q354*	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 13 (SLC22A13), mRNA.	354						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GCCTGAGCCTCCAAGTGGGGGA	0.569000														49			19		0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281633	71281633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:71281633G>A	uc002jjn.3	-	1	1154	c.1007C>T	c.(1006-1008)tCa>tTa	p.S336L	CDC42EP4_uc002jjo.3_Missense_Mutation_p.S336L|CDC42EP4_uc002jjp.1_Missense_Mutation_p.S266L|CDC42EP4_uc021ucn.1_Missense_Mutation_p.S336L	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	336					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			TGGCTGTCTTGAGACAGCAGC	0.647000														63			33		0	0	1	0	0
NELF	26012	broad.mit.edu	37	9	140347008	140347008	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140347008G>A	uc004cna.3	-	10	1394	c.1162C>T	c.(1162-1164)Ctt>Ttt	p.L388F	NELF_uc011mex.2_Missense_Mutation_p.L185F|NELF_uc010nci.3_Missense_Mutation_p.L132F|NELF_uc011mey.2_Non-coding_Transcript|NELF_uc004cnb.3_Missense_Mutation_p.L358F|NELF_uc004cmz.3_Missense_Mutation_p.L386F|NELF_uc011mez.2_Missense_Mutation_p.L365F|NELF_uc004cnc.3_Missense_Mutation_p.L363F|NELF_uc022bqi.1_Missense_Mutation_p.L365F	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	Homo sapiens nasal embryonic LHRH factor (NELF), transcript variant 1, mRNA.	388						nucleus|plasma membrane				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	10	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		CACATACCAAGGATGTCCTCG	0.657000														40			8		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367630	107367630	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107367630G>A	uc011lvq.2	-	0	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGCCAGAAAGGGAAATGGTCT	0.517000														99			26		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94927321	94927321	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:94927321C>T	uc002btj.3	+	11	1718	c.1653C>T	c.(1651-1653)aaC>aaT	p.N551N	MCTP2_uc002bti.2_Silent_p.N551N|MCTP2_uc010boj.3_Silent_p.N280N|MCTP2_uc010bok.3_Silent_p.N551N|MCTP2_uc002btk.4_Silent_p.N139N|MCTP2_uc002btl.3_Silent_p.N139N	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	551	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCTACAAAAACCTCAACCCTG	0.438000														27			21		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429948	135429948	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:135429948G>A	uc004ezu.1	+	5	4374	c.4083G>A	c.(4081-4083)ggG>ggA	p.G1361G	GPR112_uc010nsb.1_Silent_p.G1156G|GPR112_uc010nsc.1_Silent_p.G1128G	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1361					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCAGTCTTGGGAAAACAGCTC	0.478000														110			22		0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94975597	94975597	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:94975597C>T	uc001tdj.2	-	1	914	c.796G>A	c.(796-798)Gac>Aac	p.D266N	TMCC3_uc001tdi.2_Missense_Mutation_p.D235N	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	266						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CCGTTACTGTCGGCCGAGCCT	0.597000														98			32		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64662882	64662882	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64662882G>A	uc001obx.3	-	39	5575	c.5460C>T	c.(5458-5460)tcC>tcT	p.S1820S	AB429224_uc009ypx.3_5'Flank|ATG2A_uc001obw.3_Silent_p.S585S	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1820							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGGCTGCCGGGGACAGGATGT	0.701000														10			5		0	0	1	0	0
C4orf26	152816	broad.mit.edu	37	4	76489530	76489530	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:76489530C>T	uc011cbo.2	+	2	353	c.318C>T	c.(316-318)tcC>tcT	p.S106S	C4orf26_uc011cbn.2_Intron|C4orf26_uc003hip.2_Missense_Mutation_p.P92S	NM_001206981	NP_001193910	Q17RF5	CD026_HUMAN	Homo sapiens chromosome 4 open reading frame 26 (C4orf26), transcript variant 1, mRNA.	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACCTTTCGTCCCTTCAAGGTG	0.478000														178			66		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73063793	73063793	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73063793G>A	uc004ebm.1	-	0		c.8796C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CACCAGAAGGGGCCTTGGAGG	0.398000														8			8		0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165559709	165559709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:165559709G>A	uc002ucp.3	-	8	1469	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	COBLL1_uc002ucq.3_Intron|COBLL1_uc010zcw.2_Missense_Mutation_p.S482F|COBLL1_uc010zcx.2_Intron|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Intron	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	454										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTCCTGACTGGAAAGCCCAGG	0.488000														121			13		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26747146	26747146	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26747146C>T	uc003acb.3	+	11	2732	c.2536C>T	c.(2536-2538)Ctg>Ttg	p.L846L	SEZ6L_uc003acd.3_Intron|SEZ6L_uc011akd.2_Silent_p.L846L|SEZ6L_uc003ace.3_Silent_p.L846L|SEZ6L_uc011akc.2_Silent_p.L846L|SEZ6L_uc003acc.3_Silent_p.L846L|SEZ6L_uc003acf.1_Silent_p.L619L|SEZ6L_uc010gvc.1_Silent_p.L619L|SEZ6L_uc011ake.2_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	846	Sushi 4.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GAGTTCTCTTCTGACCTGCTA	0.552000														77			39		0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113857486	113857486	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113857486G>A	uc010rxb.2	+	6	1203	c.970G>A	c.(970-972)Gag>Aag	p.E324K	HTR3A_uc010rxa.2_Intron|HTR3A_uc009yyx.3_Intron|HTR3A_uc010rxc.2_Intron	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	305					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCAGTCTGGTGAGAAACCCGC	0.597000														137			26		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57863320	57863320	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57863320G>A	uc001snx.3	+	10	1509	c.1415G>A	c.(1414-1416)gGg>gAg	p.G472E	GLI1_uc021qzi.1_Missense_Mutation_p.G431E|GLI1_uc009zpq.3_Missense_Mutation_p.G344E	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	472					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGCAATGCAGGGGGCAGCACT	0.612000														87			23		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19760619	19760619	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19760619G>A	uc002nnh.4	-	17	2494	c.2466C>T	c.(2464-2466)acC>acT	p.T822T	ATP13A1_uc002nne.3_5'UTR|ATP13A1_uc002nnf.4_Silent_p.T190T|ATP13A1_uc002nng.3_Silent_p.T704T	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	822					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCTGGGGGTCGGTGGCCTGCA	0.687000														36			7		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111789272	111789272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:111789272C>T	uc010yxk.1	+	14	1574	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S	ACOXL_uc021vmm.1_Silent_p.S303S|ACOXL_uc021vmn.1_Silent_p.S273S	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	480					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CTTCTCTGTCCCTGGCACACA	0.502000														65			19		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31997551	31997551	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31997551C>T	uc011dpd.2	+	28	3936	c.3885C>T	c.(3883-3885)ttC>ttT	p.F1295F	C4B_uc011dpe.2_Silent_p.F1295F	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1295					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										AGGGCAGCTTCCAAGGGGGAT	0.642000														66			14		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15967631	15967631	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:15967631G>A	uc010lsu.3	-	9	1437	c.1373C>T	c.(1372-1374)tCa>tTa	p.S458L	MSR1_uc003wwz.3_Missense_Mutation_p.S440L|MSR1_uc003wxa.3_Missense_Mutation_p.S377L	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	440					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTCAGAATGTGAACAGGCTCT	0.378000														87			42		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142186765	142186765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:142186765G>A	uc003yvy.3	+	14	2649	c.2371G>A	c.(2371-2373)Gaa>Aaa	p.E791K	DENND3_uc010mep.3_Missense_Mutation_p.E752K	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	791										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCCAAGAAAGAAGTCTTCGA	0.488000														89			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061525	9061525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9061525G>A	uc002mkp.3	-	2	26125	c.25921C>T	c.(25921-25923)Ccc>Tcc	p.P8641S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8643	Ser-rich.|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						TTTGAGGAGGGATGAATTTTC	0.428000														62			24		0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713428	138713428	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:138713428G>A	uc004cgr.4	-	10	3079	c.3079C>T	c.(3079-3081)Ctt>Ttt	p.L1027F	CAMSAP1_uc004cgq.4_Missense_Mutation_p.L917F|CAMSAP1_uc010nbg.3_Missense_Mutation_p.L749F	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1027						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GTTTCGTTAAGCTTCTCGATG	0.542000														34			18		0	0	1	0	0
GSR	2936	broad.mit.edu	37	8	30538495	30538495	+	Missense_Mutation	SNP	G	A	A	rs3180947		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:30538495G>A	uc003xih.2	-	11	1479	c.1345C>T	c.(1345-1347)Ccg>Tcg	p.P449S	GSR_uc022ato.1_Missense_Mutation_p.P396S|GSR_uc022atp.1_Missense_Mutation_p.P420S|GSR_uc022atq.1_Missense_Mutation_p.P367S	NM_000637	NP_000628	P00390	GSHR_HUMAN	Homo sapiens glutathione reductase (GSR), transcript variant 1, mRNA.	449					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	p.P449Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TGATACATCGGGGTAAAGCTC	0.338000														180			14		0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089137	113089137	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113089137C>T	uc002thq.1	+	11	3036	c.2642C>T	c.(2641-2643)cCc>cTc	p.P881L		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	881							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GTGTGGGCTCCCGAAGACTTA	0.428000														33			12		0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723973	142723973	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142723973C>T	uc003wcc.1	-	0	247	c.247G>A	c.(247-249)Gga>Aga	p.G83R		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AAGAGCAATCCCCAAAGCATC	0.483000														55			25		0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81239586	81239586	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81239586G>A	uc001szj.1	-	3	599	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	136	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GGAATTATGCGAGAGATATAA	0.473000														71			20		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68950480	68950480	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:68950480G>T	uc003xxv.1	+	6	819	c.792G>T	c.(790-792)gtG>gtT	p.V264V	PREX2_uc003xxu.1_Silent_p.V264V|PREX2_uc011lez.1_Silent_p.V199V	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	264	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAGAACGGGTGTTTTTTCTTT	0.403000														54			26		2.41591e-17	2.42797e-17	1	1	0
GPR6	2830	broad.mit.edu	37	6	110301203	110301203	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:110301203C>T	uc011eav.2	+	2	1177	c.933C>T	c.(931-933)gcC>gcT	p.A311A	GPR6_uc011eaw.2_Silent_p.A296A|GPR6_uc003ptu.3_Silent_p.A296A|GPR6_uc021zds.1_Silent_p.A296A	NM_005284	NP_005275	P46095	GPR6_HUMAN	Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.	296						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		TGCCCTTCGCCATCTATTGCG	0.622000														46			5		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210086	100210086	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:100210086G>A	uc002taf.3	-	13	2256	c.2112C>T	c.(2110-2112)tcC>tcT	p.S704S	AFF3_uc002tag.3_Silent_p.S679S|AFF3_uc010fiq.1_Silent_p.S679S|AFF3_uc010yvr.1_Silent_p.S832S|AFF3_uc002tah.1_Silent_p.S704S	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	679					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S704>?(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACTCCAGGTCGGAGTCCGAGG	0.612000														109			32		0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89251666	89251666	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89251666G>A	uc002fmt.3	+	4	665	c.588G>A	c.(586-588)caG>caA	p.Q196Q	CDH15_uc010cij.1_Silent_p.Q196Q	NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	196	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	p.Q195*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TCCTGCAGCAGGGCAGCCCCG	0.667000														7			3		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40392512	40392512	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40392512G>A	uc002omp.4	-	15	8000	c.7992C>T	c.(7990-7992)ctC>ctT	p.L2664L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2664	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCTGGAGAGGAGCCCACAGA	0.627000														89			10		0	0	1	0	0
CRYGD	1421	broad.mit.edu	37	2	209025752	209025752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:209025752G>A	uc002vcq.4	-	2	318	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	101	Beta/gamma crystallin 'Greek key' 3.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TCAGACATAAGGCCTCGGTAG	0.498000														55			30		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48385910	48385910	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48385910C>T	uc001jez.3	-	1	3296	c.3182G>A	c.(3181-3183)aGg>aAg	p.R1061K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	1061	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CACCAGCAGCCTGGAGACCTG	0.537000														114			38		0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39974767	39974767	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39974767G>A	uc002hxv.2	+	3	1040	c.715G>A	c.(715-717)Gag>Aag	p.E239K	FKBP10_uc002hxw.1_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	239	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGCCTATGGCGAGAAAGGCTA	0.547000														14			4		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577519	9577519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9577519G>A	uc002mlp.1	-	9	2314	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C	ZNF560_uc010dwr.1_Missense_Mutation_p.R596C	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTTTTTAAGCGATCATGAAAG	0.378000														195			60		0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8987935	8987935	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:8987935G>A	uc002czl.2	-	30	3428	c.3229C>T	c.(3229-3231)Cta>Tta	p.L1077L	USP7_uc010uyj.1_Silent_p.L978L|USP7_uc002czk.2_Silent_p.L1061L	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	1077					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCGAGCCCTAGCCAAGGCCGA	0.522000														117			35		0	0	1	0	0
GFI1B	8328	broad.mit.edu	37	9	135862086	135862086	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135862086G>A	uc004ccg.3	+	1	376	c.21G>A	c.(19-21)gtG>gtA	p.V7V	GFI1B_uc010mzy.3_Silent_p.V7V	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	7	Mediates repression of transcription.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCTTCCTGGTGAAGAGCAAGA	0.602000														20			7		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98408551	98408551	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98408551G>A	uc001kmq.3	-	6	1178	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	PIK3AP1_uc001kmp.3_Silent_p.N172N	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	350						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)		AGGCAGTGAGGTTCTTCAGTC	0.507000														38			10		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9352995	9352995	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9352995G>A	uc021wam.1	+	7	646	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	PLCB4_uc010gbw.1_Missense_Mutation_p.E211K|PLCB4_uc010gbx.3_Missense_Mutation_p.E211K|PLCB4_uc021wal.1_Missense_Mutation_p.E211K|PLCB4_uc002wnh.3_Missense_Mutation_p.E58K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	211					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAAGTTCTATGAACTGACACA	0.338000														83			13		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180489	124180489	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124180489G>A	uc010sag.2	-	0	174	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	58					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)		AATAGTACATGGGGGTGTGAA	0.483000														73			18		0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1585101	1585101	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:1585101G>A	uc022brv.1	-	0	351	c.351C>T	c.(349-351)atC>atT	p.I117I	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.I117I	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	117						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCTCCACGCTGATACAGGTCA	0.632000			T	CRLF2	"""B-ALL, Downs associated ALL"""									18			6		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34663440	34663440	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34663440G>A	uc001bxt.3	+	1	1773	c.935G>A	c.(934-936)aGg>aAg	p.R312K	C1orf94_uc001bxs.4_Missense_Mutation_p.R122K	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	122							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GCTCAGAAGAGGCAGCTCCCA	0.612000														39			15		0	0	1	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144297308	144297308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144297308C>T	uc003yxu.2	+	3	545	c.470C>T	c.(469-471)cCc>cTc	p.P157L		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 (GPIHBP1), mRNA.	157					cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity	p.P157P(1)		lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCAGGCGGCCCCCGGGGCAGC	0.687000														32			10		0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48240513	48240513	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48240513G>A	uc001rql.3	-	7	1385	c.984C>T	c.(982-984)tcC>tcT	p.S328S	VDR_uc001rqm.3_Silent_p.S278S|VDR_uc001rqn.3_Silent_p.S278S|VDR_uc010slq.2_Silent_p.S246S	NM_001017536	NP_001017536	P11473	VDR_HUMAN	Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 3, mRNA.	278	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCATGGTGAAGGACTCATTGG	0.552000														67			27		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995918	140995918	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140995918G>A	uc004fbt.3	+	3	3052	c.2728G>A	c.(2728-2730)Gaa>Aaa	p.E910K	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_Missense_Mutation_p.E569K	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	910	MAGE.						protein binding	p.D909N(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)					TACACTGGATGAAAAGGTGGA	0.468000										HNSCC(15;0.026)				75			86		0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86894926	86894926	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:86894926C>T	uc010mpz.3	-	15	1938	c.1792G>A	c.(1792-1794)Ggg>Agg	p.G598R	SLC28A3_uc011lsy.2_Missense_Mutation_p.G529R|SLC28A3_uc004anu.2_Missense_Mutation_p.G598R	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	598					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GCCACGGTCCCCGCAATCAGA	0.572000														28			6		0	0	1	0	0
ZNF643	65243	broad.mit.edu	37	1	40922631	40922631	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:40922631C>T	uc001cfn.2	+	2	525	c.228C>T	c.(226-228)ttC>ttT	p.F76F	ZNF643_uc001cfl.2_5'UTR|ZNF643_uc001cfm.2_5'UTR	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	Homo sapiens zinc finger protein 643 (ZNF643), mRNA.	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			TGTTAACCTTCAAGGACGTAT	0.488000														23			12		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003483	122003483	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122003483C>T	uc003eew.4	+	6	3150	c.2712C>T	c.(2710-2712)gtC>gtT	p.V904V	CASR_uc003eev.4_Silent_p.V894V	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	894					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)	GCAGCAACGTCTCCCGCAAGC	0.652000														33			21		0	0	1	0	0
FCN3	8547	broad.mit.edu	37	1	27697464	27697464	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27697464C>T	uc001boa.3	-	6	400	c.394_splice	c.e6-1	p.V132_splice	FCN3_uc001bob.3_Splice_Site_p.V121_splice	NM_003665	NP_003656	O75636	FCN3_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen) (FCN3), transcript variant 1, mRNA.	132	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCTGAAACACCTGGGGGAGGG	0.577000														69			10		0	0	1	0	0
EFHA2	286097	broad.mit.edu	37	8	16935338	16935338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:16935338C>T	uc003wxd.2	+	3	656	c.614C>T	c.(613-615)tCa>tTa	p.S205L		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	Homo sapiens EF-hand domain family, member A2 (EFHA2), mRNA.	205						integral to membrane	calcium ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(4)	23				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		TGGAAAGGCTCATCGAAGCTA	0.284000														45			17		0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12384536	12384536	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12384536G>A	uc010xmj.2	-	4	883	c.678C>T	c.(676-678)ttC>ttT	p.F226F	ZNF44_uc002mtl.3_Intron|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Silent_p.F178F	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CAGGAGAACTGAAGGTTTTTC	0.413000														80			22		0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66048628	66048628	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:66048628G>A	uc002api.3	-	2	546	c.161C>T	c.(160-162)tCt>tTt	p.S54F	DENND4A_uc002aph.3_Missense_Mutation_p.S54F|DENND4A_uc002apj.3_Missense_Mutation_p.S54F|DENND4A_uc010ujj.1_Missense_Mutation_p.S54F	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	54	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTCCCCAAGAGATTTGATAAT	0.378000														35			7		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567312	4567312	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4567312C>T	uc010qyf.2	+	0	892	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTATGCTGTTCGCACCAAGCA	0.448000														53			32		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92600303	92600303	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92600303G>T	uc001pdj.4	+	20	12072	c.12055G>T	c.(12055-12057)Gtg>Ttg	p.V4019L	FAT3_uc001pdi.4_Missense_Mutation_p.V459L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4019					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTGGGCTGCGTGCTCTATCC	0.657000										TCGA Ovarian(4;0.039)				3			3		0.115264	0.115272	1	1	0
ABCA4	24	broad.mit.edu	37	1	94463552	94463552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94463552C>T	uc001dqh.3	-	47	6698	c.6594G>A	c.(6592-6594)caG>caA	p.Q2198Q		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	2198					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)		GCCTCTCCCTCTGCACACTGC	0.567000														40			26		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51974720	51974720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51974720C>T	uc002abh.3	+	1	492	c.89C>T	c.(88-90)tCt>tTt	p.S30F	SCG3_uc010ufz.2_Intron	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	30					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		CTAGACAAATCTCTACATAAT	0.244000														37			16		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188164	140188164	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140188164G>A	uc003lhi.2	+	0	1493	c.1392G>A	c.(1390-1392)gtG>gtA	p.V464V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.V464V|PCDHAC2_uc011daa.2_Silent_p.V464V	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	478	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)			CAGTGTTCGTGAAGGAGAACA	0.642000														72			36		0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916336	72916336	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72916336G>A	uc002jme.1	-	1	778	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	USH1G_uc010wro.1_Silent_p.L96L	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	199					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)					GAGTACGGCAGGTGGCTGCCC	0.687000														43			16		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43926790	43926790	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:43926790G>A	uc010yny.2	+	7	776	c.693G>A	c.(691-693)atG>atA	p.M231I	PLEKHH2_uc002rte.3_Missense_Mutation_p.M231I|PLEKHH2_uc002rtf.3_Missense_Mutation_p.M230I	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	231						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTCTAGAAATGGAAATTCCAG	0.368000														54			23		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183710312	183710312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:183710312G>A	uc003ivd.1	+	23	5446	c.5371G>A	c.(5371-5373)Gac>Aac	p.D1791N		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1791					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GATCTATGACGACCACCGTAA	0.453000														16			5		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43439744	43439744	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43439744G>A	uc002ovl.4	-	1	344	c.242C>T	c.(241-243)tCa>tTa	p.S81L	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	81	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				TACTATATATGATGTAACATA	0.423000														329			88		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48650406	48650406	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48650406G>A	uc002irk.1	+	6	1444	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	CACNA1G_uc002iri.1_Missense_Mutation_p.D358N|CACNA1G_uc002irj.1_Missense_Mutation_p.D358N|CACNA1G_uc002irl.1_Missense_Mutation_p.D358N|CACNA1G_uc002irm.1_Missense_Mutation_p.D358N|CACNA1G_uc002irn.1_Missense_Mutation_p.D358N|CACNA1G_uc002iro.1_Missense_Mutation_p.D358N|CACNA1G_uc002irp.1_Missense_Mutation_p.D358N|CACNA1G_uc002irq.1_Missense_Mutation_p.D358N|CACNA1G_uc002irr.1_Missense_Mutation_p.D358N|CACNA1G_uc002irs.1_Missense_Mutation_p.D358N|CACNA1G_uc002irt.1_Missense_Mutation_p.D358N|CACNA1G_uc002iru.1_Missense_Mutation_p.D358N|CACNA1G_uc002irv.1_Missense_Mutation_p.D358N|CACNA1G_uc002irw.1_Missense_Mutation_p.D358N|CACNA1G_uc002irx.1_Missense_Mutation_p.D271N|CACNA1G_uc002iry.1_Missense_Mutation_p.D271N|CACNA1G_uc002isg.1_Missense_Mutation_p.D271N|CACNA1G_uc002ish.1_Missense_Mutation_p.D271N|CACNA1G_uc002isi.1_Missense_Mutation_p.D271N|CACNA1G_uc002irz.1_Missense_Mutation_p.D271N|CACNA1G_uc002isa.1_Missense_Mutation_p.D271N|CACNA1G_uc002isd.1_Missense_Mutation_p.D271N|CACNA1G_uc002isb.1_Missense_Mutation_p.D271N|CACNA1G_uc002isc.1_Missense_Mutation_p.D271N|CACNA1G_uc002ise.1_Missense_Mutation_p.D271N|CACNA1G_uc002isf.1_Missense_Mutation_p.D271N	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	358					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGCTGGGTCGACATCATGTA	0.552000														8			4		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31341840	31341840	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31341840C>T	uc002ebr.3	+	27	3291	c.3193C>T	c.(3193-3195)Ctc>Ttc	p.L1065F	ITGAM_uc002ebq.3_Missense_Mutation_p.L1064F|ITGAM_uc010can.3_Missense_Mutation_p.L470F	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	1064					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCATAACCACCTCCTGATCGT	0.617000														23			7		0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033329	41033329	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41033329C>T	uc021wjj.1	+	0	843	c.843C>T	c.(841-843)atC>atT	p.I281I	B3GALT5_uc002yyb.1_Silent_p.I281I|B3GALT5_uc002yye.2_Silent_p.I281I|B3GALT5_uc002yyi.1_Silent_p.I281I|B3GALT5_uc002yyj.1_Silent_p.I281I|B3GALT5_uc002yyk.1_Silent_p.I281I|B3GALT5_uc002yyl.1_Silent_p.I281I|B3GALT5_uc002yym.1_Silent_p.I281I	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA.	281					protein glycosylation	Golgi membrane|endoplasmic reticulum|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TCAGGAGGATCGTGGCCTGCC	0.577000														65			27		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83095854	83095854	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:83095854C>T	uc003uhy.2	-	3	1021	c.400G>A	c.(400-402)Ggt>Agt	p.G134S	SEMA3E_uc022agy.1_Missense_Mutation_p.G74S	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	134	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCTCCAGTACCACAGGTCAGA	0.383000														58			26		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201029892	201029892	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201029892G>A	uc001gvv.3	-	25	3535	c.3308C>T	c.(3307-3309)cCc>cTc	p.P1103L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1103					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.I1102L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGGTTTTTGGGAATGTAGCA	0.537000														277			18		0	0	1	0	0
LANCL3	347404	broad.mit.edu	37	X	37518741	37518741	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:37518741C>T	uc011mkd.2	+	2	1026	c.724C>T	c.(724-726)Ctt>Ttt	p.L242F	LANCL3_uc004ddp.2_Missense_Mutation_p.L242F	NM_001170331	NP_001163802	Q6ZV70	LANC3_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 3 (bacterial) (LANCL3), transcript variant 2, mRNA.	242							catalytic activity			lung(4)|pancreas(1)	5						GTCGTCTATTCTTCAGATGCT	0.433000														19			15		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981878	61981878	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61981878G>A	uc002yes.2	-	4	1063	c.885C>T	c.(883-885)atC>atT	p.I295I	CHRNA4_uc002yet.1_Silent_p.I119I|CHRNA4_uc010gke.1_Silent_p.I224I|CHRNA4_uc002yev.1_Silent_p.I119I|CHRNA4_uc010gkf.1_Silent_p.I119I	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	295					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TGGACGGGATGATCTCGGTGA	0.577000														62			27		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839224	62839224	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62839224C>T	uc002yii.3	+	6	1039	c.675C>T	c.(673-675)gtC>gtT	p.V225V	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	225	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGAGGTCGTCGAAGTCACCA	0.617000														31			13		0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44371764	44371764	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:44371764C>T	uc003oxl.3	+	6	1068	c.758_splice	c.e6+1	p.S253_splice		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	253					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	p.S253F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGCTAAGATCGTAAGTTGCC	0.398000														66			17		0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779519	97779519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:97779519G>A	uc010qop.2	+	8	950	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CC2D2B_uc001klk.3_Intron|CC2D2B_uc001kll.3_Missense_Mutation_p.E240K	NM_001159747	NP_001153219	Q6DHV5	C2D2B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2B (CC2D2B), transcript variant 1, mRNA.	240										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CTATTCAAAGGAAAGTTTCTG	0.333000														165			62		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018946	14018946	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:14018946G>A	uc001rbt.2	-	1	376	c.197C>T	c.(196-198)cCc>cTc	p.P66L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	66					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.P66P(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCCACCCGGGGTACCACGGA	0.557000														99			26		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401599	89401599	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89401599C>T	uc010upo.1	+	11	6157	c.5783C>T	c.(5782-5784)cCa>cTa	p.P1928L	ACAN_uc010upp.1_Missense_Mutation_p.P1928L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1928					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)			AGTGGAACTCCATCTAGTTTC	0.537000														75			25		0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153765949	153765949	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:153765949T>C	uc003lvh.3	+	6	1147	c.1015T>C	c.(1015-1017)Ttg>Ctg	p.L339L	GALNT10_uc003lvg.1_Silent_p.L339L|GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Silent_p.L180L	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	339	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGACCCAGGCTTGGAGATCTG	0.592000														87			39		0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	192053205	192053205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:192053205C>T	uc003fsx.3	-	2	1185	c.359G>A	c.(358-360)gGa>gAa	p.G120E	FGF12_uc003fsy.3_Missense_Mutation_p.G58E	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	120					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AGCCTTCACTCCTTGGATGGC	0.458000														84			33		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506447	11506447	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:11506447C>T	uc001qzw.1	-	3	624	c.587G>A	c.(586-588)gGa>gAa	p.G196E	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	258	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGTGG	0.607000														158			30		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215667	20215667	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20215667C>T	uc010tkt.2	+	0	81	c.81C>T	c.(79-81)ctC>ctT	p.L27L		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L27F(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCTATTTCTCTTCTTACTAT	0.393000														114			54		0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31606601	31606601	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31606601C>T	uc002wyj.3	+	8	1022	c.828C>T	c.(826-828)gcC>gcT	p.A276A		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	276						extracellular region	lipid binding										AGGCCGGTGCCCTCAACCTGG	0.667000														61			16		0	0	1	0	0
ATP1B4	23439	broad.mit.edu	37	X	119510247	119510247	+	Missense_Mutation	SNP	C	T	T	rs149447498		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:119510247C>T	uc004esr.3	+	5	856	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C	ATP1B4_uc004esq.3_Missense_Mutation_p.R254C|ATP1B4_uc011mtx.2_Missense_Mutation_p.R223C|ATP1B4_uc011mty.2_Missense_Mutation_p.R215C	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA.	258					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.R254C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TGTAGGCTTTCGTCCTGAGCT	0.363000														11			28		0	0	1	0	0
SH2B2	10603	broad.mit.edu	37	7	101957774	101957774	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:101957774C>T	uc011kko.2	+	5	1220	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L		NM_020979	NP_066189	O14492	SH2B2_HUMAN	Homo sapiens SH2B adaptor protein 2 (SH2B2), mRNA.	436					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						GCAGGGGGGCCCCGGAACCAC	0.627000														19			11		0	0	1	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998360	8998360	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:8998360G>A	uc022arp.1	-	0	802	c.802C>T	c.(802-804)Ctg>Ttg	p.L268L	PPP1R3B_uc003wsn.4_Silent_p.L268L|PPP1R3B_uc003wso.4_Silent_p.L268L	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.	268					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		TCTGGAAACAGACCATAGGAA	0.532000														41			16		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141007	143141007	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143141007C>T	uc011ktg.2	+	0	462	c.462C>T	c.(460-462)ttC>ttT	p.F154F	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	154					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTCCAGCTTCACCACCATTC	0.463000														161			66		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89388756	89388756	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89388756C>T	uc010upo.1	+	6	1446	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S	ACAN_uc002bmx.3_Missense_Mutation_p.P358S|ACAN_uc010upp.1_Missense_Mutation_p.P358S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	358					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)			TGTGGACATCCCAGAAAACTT	0.577000														44			29		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170066148	170066148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170066148C>T	uc002ues.3	-	37	6497	c.6284G>A	c.(6283-6285)cGa>cAa	p.R2095Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2095					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.R2095Q(4)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGTGCGTTTCGTCCTGGAAG	0.413000														48			13		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159688919	159688919	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:159688919G>A	uc010kjv.3	+	21	5730	c.5530G>A	c.(5530-5532)Ggg>Agg	p.G1844R		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1844						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGGAAGAACAGGGCCTCAGTC	0.438000														16			5		0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6325221	6325221	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:6325221G>A	uc003gja.3	-	8	1176	c.1152C>T	c.(1150-1152)ccC>ccT	p.P384P	PPP2R2C_uc003gjb.3_Silent_p.P367P|PPP2R2C_uc003gjc.3_Silent_p.P384P|PPP2R2C_uc011bwd.2_Silent_p.P377P|PPP2R2C_uc011bwe.2_Silent_p.P377P	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	384					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GCACAGCCCGGGGCTTGCTGC	0.617000														44			9		0	0	1	0	0
ESAM	90952	broad.mit.edu	37	11	124624623	124624623	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124624623G>A	uc001qav.4	-	4	817	c.644C>T	c.(643-645)tCg>tTg	p.S215L	VSIG2_uc001qas.3_5'Flank|VSIG2_uc001qat.3_5'Flank|ESAM_uc010sao.2_Missense_Mutation_p.S36L|ESAM_uc001qau.4_Missense_Mutation_p.S142L|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Non-coding_Transcript	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	215	Ig-like C2-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	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;0.022)		CATGGAAGACGAAAGGTTGGT	0.483000														131			51		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40411940	40411940	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40411940C>T	uc002omp.4	-	6	3696	c.3688G>A	c.(3688-3690)Gga>Aga	p.G1230R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1230	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTGCGGTCCGCAGCTGGAG	0.667000														51			20		0	0	1	0	0
TMEM150B	284417	broad.mit.edu	37	19	55832399	55832399	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55832399C>T	uc010esw.1	-	2	179	c.6G>A	c.(4-6)tgG>tgA	p.W2*	TMEM150B_uc010yfu.1_Nonsense_Mutation_p.W2*|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript|TMEM150B_uc002qki.3_Nonsense_Mutation_p.W2*	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	Homo sapiens transmembrane protein 150B (TMEM150B), mRNA.	2						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						ACAGGTAGCCCCACATGCCGG	0.602000														19			11		0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78392180	78392180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:78392180G>A	uc001dic.4	+	6	868	c.571G>A	c.(571-573)Gat>Aat	p.D191N	NEXN_uc001dia.3_Missense_Mutation_p.D177N|NEXN_uc009wcb.1_Missense_Mutation_p.D113N|NEXN_uc001dib.4_Missense_Mutation_p.D127N|NEXN_uc001did.1_Missense_Mutation_p.D101N|NEXN_uc001dif.1_Missense_Mutation_p.D83N	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	191	Glu-rich.				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)		GAATTTTGAGGATCTAGAAAA	0.318000														97			9		0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24839717	24839717	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24839717G>A	uc001wpc.3	+	1	1434	c.1113G>A	c.(1111-1113)gaG>gaA	p.E371E	NFATC4_uc010alr.3_Silent_p.E434E|NFATC4_uc010tok.2_Silent_p.E434E|NFATC4_uc010tol.2_Silent_p.E434E|NFATC4_uc010als.2_Silent_p.E384E|NFATC4_uc010too.2_Silent_p.E384E|NFATC4_uc010tom.2_Silent_p.E384E|NFATC4_uc010ton.2_Silent_p.E384E|NFATC4_uc010toq.2_Silent_p.E403E|NFATC4_uc010alt.3_Silent_p.E403E|NFATC4_uc010top.2_Silent_p.E403E|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Silent_p.E371E|NFATC4_uc010tos.2_Silent_p.E301E|NFATC4_uc010tot.2_Silent_p.E359E|NFATC4_uc010tou.2_Silent_p.E301E|NFATC4_uc010tov.2_Silent_p.E359E|NFATC4_uc010tow.2_Silent_p.E301E|NFATC4_uc010alv.3_Silent_p.E359E|NFATC4_uc010tox.2_Silent_p.E301E|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	371					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.K370K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCCGGAAGGAGGTGGCTGGCA	0.642000														46			9		0	0	1	0	0
LOXL1	4016	broad.mit.edu	37	15	74238812	74238812	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74238812C>T	uc002awc.1	+	2	1602	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F		NM_005576	NP_005567	Q08397	LOXL1_HUMAN	Homo sapiens lysyl oxidase-like 1 (LOXL1), mRNA.	422	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						TACTGCGCTTCCCCCAGCGCG	0.677000														46			9		0	0	1	0	0
IFNA10	3446	broad.mit.edu	37	9	21207021	21207021	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21207021G>A	uc003zoq.1	-	0	122	c.76C>T	c.(76-78)Ctg>Ttg	p.L26L	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	26					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		GTCTGAGGCAGATCACAGCCT	0.493000														87			10		0	0	1	0	0
MRM1	79922	broad.mit.edu	37	17	34964690	34964690	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:34964690C>T	uc002hne.3	+	4	1116	c.901C>T	c.(901-903)Cac>Tac	p.H301Y	MRM1_uc002hnf.3_Missense_Mutation_p.H106Y	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	Homo sapiens mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) (MRM1), nuclear gene encoding mitochondrial protein, mRNA.	301					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	p.L300I(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		AATTCTTCTTCACTCCATTTG	0.542000														106			81		0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50170331	50170331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50170331C>T	uc002ppa.3	+	2	1097	c.415C>T	c.(415-417)Ccc>Tcc	p.P139S	IRF3_uc002poy.2_5'Flank|IRF3_uc021uxp.1_5'Flank|IRF3_uc021uxq.1_5'Flank|IRF3_uc002pot.2_5'Flank|IRF3_uc021uxr.1_5'Flank|IRF3_uc021uxs.1_5'Flank|IRF3_uc002pow.3_5'Flank|IRF3_uc021uxo.1_5'Flank|IRF3_uc002pou.3_5'Flank|IRF3_uc010end.2_5'Flank|IRF3_uc002poz.1_5'Flank|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Missense_Mutation_p.P138S	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	139					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		AAGATGTCTTCCCTGCTCCCT	0.607000														68			28		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080468	42080468	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:42080468G>A	uc002yyq.1	-	1	725	c.273C>T	c.(271-273)ttC>ttT	p.F91F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	91	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTAAGGTACTGAAGCTTGAAG	0.498000														109			41		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164846	26164846	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26164846C>T	uc003abz.1	+	3	1213	c.963C>T	c.(961-963)ttC>ttT	p.F321F	MYO18B_uc003aca.1_Silent_p.F202F|MYO18B_uc010guy.1_Silent_p.F202F|MYO18B_uc010guz.1_Silent_p.F202F|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	321						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						GGGGAGGTTTCCTGGGAAGAA	0.532000														17			4		0	0	1	0	0
CST8	10047	broad.mit.edu	37	20	23476501	23476501	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:23476501C>T	uc002wth.1	+	3	736	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S		NM_005492	NP_005483	O60676	CST8_HUMAN	Homo sapiens cystatin 8 (cystatin-related epididymal specific) (CST8), mRNA.	127						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGGAGCACTTCCCTGGAATGG	0.358000														150			14		0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11504555	11504555	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:11504555G>A	uc001iks.1	-	13	2466	c.2423C>T	c.(2422-2424)tCa>tTa	p.S808L	USP6NL_uc001ikt.3_Missense_Mutation_p.S791L	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	791						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TGCGGCCGGTGAAGCTTTATA	0.532000														138			40		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73462316	73462316	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73462316C>T	uc001jrx.4	+	22	2982	c.2592C>T	c.(2590-2592)ccC>ccT	p.P864P	CDH23_uc001jry.3_Silent_p.P864P|CDH23_uc001jrz.3_Silent_p.P864P	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	866	Cadherin 8.				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						GTGGCAGGCCCCCTCTGAAAG	0.567000														188			61		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115143510	115143510	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:115143510C>T	uc001efd.1	-	13	2589	c.1887G>A	c.(1885-1887)atG>atA	p.M629I	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.M572I	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	629	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		AAGGAGCTTCCATGACACTTC	0.423000														84			38		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108383124	108383124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:108383124C>T	uc001pkk.3	-	5	3221	c.3110G>A	c.(3109-3111)gGa>gAa	p.G1037E	EXPH5_uc010rvz.2_Missense_Mutation_p.G881E|EXPH5_uc010rvy.2_Missense_Mutation_p.G849E	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1037					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TATTTTACTTCCTGACTGCCT	0.373000														68			29		0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74880393	74880394	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:74880393_74880394CT>TC	uc001owb.3	+	4	1019_1020	c.624_625CT>TC	c.(622-627)cccttt>ccTCtt	p.F209L	SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Missense_Mutation_p.F65L|SLCO2B1_uc010rrs.2_Missense_Mutation_p.F93L|SLCO2B1_uc001owc.3_Intron|SLCO2B1_uc001owd.3_Missense_Mutation_p.F187L	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	209					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CCATTCAGCCCTTTGGCATCTC	0.599000														78			21		0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183381334	183381334	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183381334C>T	uc003flv.3	+	3	1304	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S	KLHL24_uc003flw.3_Missense_Mutation_p.P337S|KLHL24_uc003flx.3_Missense_Mutation_p.P337S	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	337						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GTGCTACGATCCTGTAACAGG	0.413000														121			41		0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128178990	128178990	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:128178990G>A	uc002tol.3	+	2	292	c.265G>A	c.(265-267)Gag>Aag	p.E89K	PROC_uc002tok.3_Missense_Mutation_p.E68K|PROC_uc010yzi.2_Missense_Mutation_p.E89K|PROC_uc010yzj.2_5'UTR|PROC_uc010yzk.2_Missense_Mutation_p.E89K	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	68			G -> C (in patients with PROC deficiency).		blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TGACTTCGAGGAGGCCAAGGA	0.587000														40			17		0	0	1	0	0
CCDC94	55702	broad.mit.edu	37	19	4268649	4268649	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4268649C>T	uc002lzv.4	+	7	961	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L		NM_018074	NP_060544	Q9BW85	CCD94_HUMAN	Homo sapiens coiled-coil domain containing 94 (CCDC94), mRNA.	310										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CCTGAGCCAACTGGGTGCATA	0.622000														28			7		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174689	207174689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:207174689G>A	uc002vbp.2	+	4	5687	c.5437G>A	c.(5437-5439)Gat>Aat	p.D1813N		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1813							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGATAATCCTGATGAACCAGT	0.393000														55			28		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167674097	167674097	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:167674097G>A	uc010jjd.3	+	26	6126	c.6126G>A	c.(6124-6126)atG>atA	p.M2042I	ODZ2_uc003lzr.4_Missense_Mutation_p.M1812I|ODZ2_uc003lzt.4_Missense_Mutation_p.M1415I|ODZ2_uc010jje.3_Missense_Mutation_p.M1306I	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.G2042W(1)		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)		TCTTGAAGATGGTCAACCTCC	0.527000														72			32		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3236042	3236042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:3236042C>T	uc004crg.4	-	5	5837	c.5680G>A	c.(5680-5682)Gct>Act	p.A1894T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1894	Ig-like C2-type 3.					extracellular region				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)				GTCATAAGAGCTCCTGGAGAA	0.408000														14			14		0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114903687	114903687	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:114903687C>T	uc021pyi.1	+	6	1198	c.691C>T	c.(691-693)Cca>Tca	p.P231S	TCF7L2_uc001lah.3_Missense_Mutation_p.P208S|TCF7L2_uc010qro.2_Missense_Mutation_p.P208S|TCF7L2_uc001lae.4_Missense_Mutation_p.P231S|TCF7L2_uc010qrm.2_Missense_Mutation_p.P231S|TCF7L2_uc010qrn.2_Missense_Mutation_p.P174S|TCF7L2_uc021pyg.1_5'UTR|TCF7L2_uc021pyh.1_Missense_Mutation_p.P208S|TCF7L2_uc021pyj.1_Missense_Mutation_p.P231S|TCF7L2_uc021pyk.1_Missense_Mutation_p.P208S|TCF7L2_uc021pyl.1_Missense_Mutation_p.P208S|TCF7L2_uc010qrp.2_Missense_Mutation_p.P208S|TCF7L2_uc021pym.1_Missense_Mutation_p.P208S|TCF7L2_uc021pyn.1_Missense_Mutation_p.P231S|TCF7L2_uc021pyo.1_Missense_Mutation_p.P231S|TCF7L2_uc021pyp.1_Missense_Mutation_p.P231S|TCF7L2_uc010qrq.2_Missense_Mutation_p.P208S|TCF7L2_uc001lac.4_Missense_Mutation_p.P208S|TCF7L2_uc010qrk.2_Missense_Mutation_p.P208S|TCF7L2_uc001lad.4_Missense_Mutation_p.P208S|TCF7L2_uc001lag.4_Missense_Mutation_p.P255S|TCF7L2_uc001laf.4_Missense_Mutation_p.P208S|TCF7L2_uc010qrl.2_Missense_Mutation_p.P208S|TCF7L2_uc010qrr.2_Missense_Mutation_p.P150S|TCF7L2_uc010qrs.2_Missense_Mutation_p.P102S|TCF7L2_uc010qrt.2_Missense_Mutation_p.P102S|TCF7L2_uc010qru.2_Missense_Mutation_p.P125S|TCF7L2_uc010qrv.2_Missense_Mutation_p.P48S|TCF7L2_uc010qrw.2_5'UTR|TCF7L2_uc010qrx.2_Missense_Mutation_p.P88S	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	231	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTCAGGAATCCCACGGCCTCC	0.527000			T	VTI1A	colorectal									41			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073561	9073562	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9073561_9073562CC>TT	uc002mkp.3	-	2	14088_14089	c.13884_13885GG>AA	c.(13882-13887)ggggct>ggAAct	p.A4629T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4631	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						TCAGTAATAGCCCCCACAGACA	0.460000														62			18		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6093215	6093215	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:6093215C>T	uc002wmr.3	-	3	1230	c.441G>A	c.(439-441)aaG>aaA	p.K147K	FERMT1_uc010gbt.3_5'UTR|FERMT1_uc002wms.3_Silent_p.K147K	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	147	FERM.|Poly-Lys.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TCTTCTTCTTCTTAAAATAGT	0.299000														102			28		0	0	1	0	0
TNNI1	7135	broad.mit.edu	37	1	201380655	201380655	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201380655C>T	uc021phe.1	-	5	286	c.286G>A	c.(286-288)Gac>Aac	p.D96N	TNNI1_uc021phd.1_Missense_Mutation_p.D75N|TNNI1_uc001gwo.1_Non-coding_Transcript|TNNI1_uc001gwp.3_Missense_Mutation_p.D75N	NM_003281	NP_003272	P19237	TNNI1_HUMAN	Homo sapiens troponin I type 1 (skeletal, slow) (TNNI1), mRNA.	96					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						AGCTTCAGGTCCTTAATCTGT	0.637000														15			6		0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110019517	110019517	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110019517C>T	uc001dxp.3	+	3	740	c.374C>T	c.(373-375)tCc>tTc	p.S125F	SYPL2_uc001dxo.2_Missense_Mutation_p.S125F|SYPL2_uc010ovk.2_Missense_Mutation_p.S125F|SYPL2_uc001dxq.2_Missense_Mutation_p.S33F	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	Homo sapiens synaptophysin-like 2 (SYPL2), mRNA.	125	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGCATCTTTTCCTTCTTCTAT	0.552000														61			28		0	0	1	0	0
RBP5	83758	broad.mit.edu	37	12	7280952	7280952	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7280952G>A	uc001qsq.3	-	1	231	c.136C>T	c.(136-138)Cag>Tag	p.Q46*	CLSTN3_uc001qsr.3_5'Flank	NM_031491	NP_113679	P82980	RET5_HUMAN	Homo sapiens retinol binding protein 5, cellular (RBP5), mRNA.	46						cytoplasm	retinal binding|retinol binding|transporter activity			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Vitamin A(DB00162)	TGGTTGCCCTGGTGTTCGATC	0.582000														71			10		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55331371	55331371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55331371C>T	uc002qhl.4	+	3	622	c.559C>T	c.(559-561)Ctt>Ttt	p.L187F	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.L187F|KIR3DL2_uc010esf.3_Missense_Mutation_p.L92F|KIR3DL2_uc021vbo.1_Missense_Mutation_p.L187F|KIR3DL2_uc002qhk.4_Missense_Mutation_p.L187F			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	187	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TCCCATGATGCTTGCCCTTGC	0.547000														140			38		0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84363139	84363139	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:84363139C>T	uc004een.3	-	0	836	c.836G>A	c.(835-837)tGg>tAg	p.W279*		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	92	Gln-rich.						N-acetyltransferase activity	p.W279*(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GCTTGCACTCCATTGGTTCAT	0.438000														51			13		0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67854817	67854817	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67854817C>T	uc010vka.2	+	2	299	c.223C>T	c.(223-225)Cga>Tga	p.R75*	TSNAXIP1_uc010cep.2_5'UTR|TSNAXIP1_uc010vjz.1_Intron|TSNAXIP1_uc002euf.4_Intron|TSNAXIP1_uc010vkb.2_Intron|TSNAXIP1_uc002eug.4_Intron|TSNAXIP1_uc002euh.4_Intron|TSNAXIP1_uc002eui.4_Intron|TSNAXIP1_uc002euj.3_Nonsense_Mutation_p.R21*|TSNAXIP1_uc002euk.3_5'Flank	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA.	21					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TTTGCAAAATCGAAAACCCTG	0.582000														229			74		0	0	1	0	0
PIGT	51604	broad.mit.edu	37	20	44050117	44050117	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44050117C>T	uc002xoh.2	+	8	1218	c.1128C>T	c.(1126-1128)caC>caT	p.H376H	PIGT_uc010ghd.2_Silent_p.H283H|PIGT_uc010ghc.2_Non-coding_Transcript|PIGT_uc010ghe.2_Silent_p.H339H|PIGT_uc010ghf.2_Silent_p.H329H|PIGT_uc010zwz.2_Silent_p.H114H|PIGT_uc010zww.2_Silent_p.H320H|PIGT_uc010zwy.2_Silent_p.H274H|PIGT_uc002xoj.2_Intron|PIGT_uc010zwu.2_Silent_p.H114H|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_Silent_p.H114H|PIGT_uc010zwx.2_Silent_p.H211H|PIGT_uc010zxa.2_Silent_p.H214H|PIGT_uc002xol.1_Intron|PIGT_uc010zxb.1_Silent_p.H52H	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	376					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				ACAACACCCACCCATACCGGG	0.622000														79			13		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16256058	16256058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16256058C>T	uc001axk.1	+	10	3527	c.3323C>T	c.(3322-3324)cCc>cTc	p.P1108L	SPEN_uc010obp.1_Missense_Mutation_p.P1067L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1108					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)		AAGCCCATTCCCTCAAAACCA	0.463000														38			12		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915535	119915535	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:119915535G>A	uc003vjj.1	+	0	1814	c.849G>A	c.(847-849)gaG>gaA	p.E283E		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	283					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)					CAGACAATGAGGACGTCAGCG	0.537000														38			17		0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123755273	123755273	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123755273C>T	uc001pzi.3	-	1	460	c.252G>A	c.(250-252)ctG>ctA	p.L84L		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	84						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ATTTCATACCCAGGATTAAGT	0.423000														67			34		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657943	72657943	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:72657943G>A	uc003txs.1	-	12	1969	c.1041C>T	c.(1039-1041)tcC>tcT	p.S347S	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		gtttccctctggatgacatga	0.493000														73			41		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569269	179569269	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179569269G>A	uc021vsy.1	-	101	26423	c.26198C>T	c.(26197-26199)cCa>cTa	p.P8733L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P5394L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9660	Ig-like 70.						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)			AGCGATGTGTGGACCACAAAC	0.373000														37			12		0	0	1	0	0
NUCB2	4925	broad.mit.edu	37	11	17332408	17332408	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17332408C>A	uc001mmw.3	+	6	765	c.520C>A	c.(520-522)Cat>Aat	p.H174N	NUCB2_uc001mms.1_Missense_Mutation_p.H175N|NUCB2_uc001mmt.1_Missense_Mutation_p.H174N|NUCB2_uc001mmv.1_Missense_Mutation_p.H174N|NUCB2_uc009ygz.3_Missense_Mutation_p.H174N	NM_005013	NP_005004	P80303	NUCB2_HUMAN	Homo sapiens nucleobindin 2 (NUCB2), mRNA.	174						ER-Golgi intermediate compartment|Golgi apparatus|cytosol|extracellular space|plasma membrane	DNA binding|calcium ion binding	p.R173H(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CAAGACTCGTCATGAAGAATT	0.279000														106			47		1.21353e-23	1.22046e-23	1	1	0
EPHB2	2048	broad.mit.edu	37	1	23237062	23237062	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:23237062C>T	uc009vqj.1	+	13	2835	c.2690C>T	c.(2689-2691)tCc>tTc	p.S897F	EPHB2_uc001bge.3_Missense_Mutation_p.S898F|EPHB2_uc001bgf.3_Missense_Mutation_p.S897F|EPHB2_uc010odu.2_Missense_Mutation_p.S839F	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	897					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCGCCCCTCTCCTCTGGGTAA	0.617000														30			10		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38237701	38237701	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:38237701G>A	uc010abx.3	-	5	1775	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	TRPC4_uc010abv.3_Silent_p.L94L|TRPC4_uc001uwt.3_Silent_p.L514L|TRPC4_uc001uws.3_Silent_p.L514L|TRPC4_uc010tey.2_Silent_p.L514L|TRPC4_uc010abw.3_Silent_p.L341L|TRPC4_uc010aby.3_Silent_p.L514L	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	514					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AAAATGTCCAGGAGCATTCTT	0.388000														63			23		0	0	1	0	0
C11orf9	745	broad.mit.edu	37	11	61533562	61533562	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:61533562C>T	uc001nsc.1	+	2	363	c.267C>T	c.(265-267)ccC>ccT	p.P89P	C11orf9_uc001nse.1_Silent_p.P80P	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	89	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						GCCATGGTCCCCTCCCACCCC	0.741000														30			7		0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78316640	78316640	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:78316640A>C	uc002bcy.4	-	5	1328	c.1328T>G	c.(1327-1329)cTc>cGc	p.L443R	TBC1D2B_uc010bla.3_Missense_Mutation_p.L443R	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	443						intracellular	Rab GTPase activator activity|protein binding			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GGTCTCCATGAGCATTCCCAG	0.602000														78			27		0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120903846	120903846	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:120903846C>T	uc002tmg.3	+	19	1965	c.1774C>T	c.(1774-1776)Cag>Tag	p.Q592*	EPB41L5_uc010fll.3_Nonsense_Mutation_p.Q592*|EPB41L5_uc010flm.3_Nonsense_Mutation_p.Q396*	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	592						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TGCCAATGTTCAGGATGCTGC	0.308000														31			12		0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106704939	106704939	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:106704939C>T	uc001tln.3	+	1	260	c.86C>T	c.(85-87)tCg>tTg	p.S29L	TCP11L2_uc001tll.3_Missense_Mutation_p.S29L|TCP11L2_uc001tlm.3_Missense_Mutation_p.S29L|TCP11L2_uc001tlo.1_Non-coding_Transcript	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.	29	Ser-rich.									endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AGCATGGCTTCGCTCAGTGAC	0.542000														83			7		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145111140	145111140	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145111140C>T	uc003zar.3	-	14	2088	c.2006G>A	c.(2005-2007)gGg>gAg	p.G669E	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	669							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CTGGTAGCCCCCCTCAAAGTA	0.637000														59			18		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57648289	57648289	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57648289T>A	uc002qnz.1	-	3	579	c.193A>T	c.(193-195)Aag>Tag	p.K65*		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATGGCTCCTTTCCTTGTTCC	0.527000														92			38		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103294589	103294589	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:103294589C>T	uc022ajr.1	-	12	1665	c.1505G>A	c.(1504-1506)gGa>gAa	p.G502E	RELN_uc022ajq.1_Missense_Mutation_p.G502E|RELN_uc010liz.3_Missense_Mutation_p.G502E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	502					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)		CTCTTTTCTTCCTTCAATTTT	0.398000														79			28		0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013265	142013265	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142013265G>A	uc003vxg.3	+	1	149	c.120G>A	c.(118-120)ttG>ttA	p.L40L	TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGAAGTCTTTGAAATGTGAAC	0.438000														78			33		0	0	1	0	0
SLC25A18	83733	broad.mit.edu	37	22	18070755	18070755	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:18070755G>A	uc002zmp.1	+	8	1134	c.640G>A	c.(640-642)Gag>Aag	p.E214K	SLC25A18_uc010gqx.3_Missense_Mutation_p.E214K|SLC25A18_uc002zmq.1_Missense_Mutation_p.E214K	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier), member 18 (SLC25A18), nuclear gene encoding mitochondrial protein, mRNA.	214						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	GGGGTTCAACGAGCTCGCCGG	0.532000														101			47		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831246	61831246	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61831246G>A	uc001jky.3	-	36	9731	c.9393C>T	c.(9391-9393)acC>acT	p.T3131T	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.	3131					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						TTGTATAAAAGGTCCCCCTGG	0.408000														184			43		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161139349	161139349	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:161139349C>T	uc003qtm.4	+	7	923	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	271					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATCTTCTGGTCCCACCTACCA	0.512000														55			43		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110831646	110831646	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:110831646G>A	uc001vqw.4	-	29	2438	c.2316C>T	c.(2314-2316)atC>atT	p.I772I		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	772	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGGGGTCCGATCGCTCCAT	0.577000														81			32		0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	192053172	192053172	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:192053172C>G	uc003fsx.3	-	2	1218	c.392G>C	c.(391-393)gGt>gCt	p.G131A	FGF12_uc003fsy.3_Missense_Mutation_p.G69A	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	131					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		ATAGCCTTCACCATTCATGGC	0.463000														98			22		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52822006	52822006	+	Silent	SNP	C	T	T	rs145881645	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52822006C>T	uc003dfs.3	+	16	1959	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.F501F|ITIH1_uc021wzg.1_Silent_p.F355F|ITIH1_uc021wzh.1_Silent_p.F355F|ITIH1_uc003dft.3_Silent_p.F244F	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	643	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	p.F643L(2)|p.F643F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CATCAGCGTTCGTGCTGTCAG	0.612000														121			38		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3855571	3855571	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:3855571G>A	uc022aqr.1	-	4	1062	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	224	CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCTGAAGGGAAGTGCGGGC	0.572000														5			3		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540322	133540322	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:133540322G>A	uc002ttp.3	-	13	4436	c.4062C>T	c.(4060-4062)agC>agT	p.S1354S	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1354							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGCTGCCTGAGCTCCCCAGGG	0.617000														31			14		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762606	24762606	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:24762606G>A	uc001iru.4	+	5	1699	c.1296G>A	c.(1294-1296)gcG>gcA	p.A432A	KIAA1217_uc001irs.3_Silent_p.A352A|KIAA1217_uc001irt.4_Silent_p.A432A|KIAA1217_uc010qcy.2_Silent_p.A432A|KIAA1217_uc010qcz.2_Silent_p.A432A|KIAA1217_uc001irv.1_Silent_p.A282A|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.A150A|KIAA1217_uc001irz.3_Silent_p.A150A|KIAA1217_uc001irx.3_Silent_p.A150A|KIAA1217_uc001iry.3_Silent_p.A150A	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	432					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCCGGTCAGCGAGTGCTTATT	0.507000														69			22		0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	994959	994959	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:994959C>T	uc021qss.1	+	18	6412	c.5769C>T	c.(5767-5769)ttC>ttT	p.F1923F	WNK1_uc001qio.4_Silent_p.F1663F|WNK1_uc021qst.1_Silent_p.F1915F|WNK1_uc001qip.4_Silent_p.F1416F|WNK1_uc001qir.4_Silent_p.F836F	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1663					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGTCTCTGTTCAGTGAACACA	0.483000														60			21		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159783292	159783292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159783292C>T	uc001fud.4	+	6	1065	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S	FCRL6_uc001fuc.2_Silent_p.S348S|FCRL6_uc009wsz.1_Silent_p.S246S|FCRL6_uc009wta.3_Silent_p.S341S	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	341						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CCCTTCCATCCCAGATACCAC	0.557000														86			22		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833963	61833963	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61833963C>T	uc001jky.3	-	36	7014	c.6676G>A	c.(6676-6678)Gaa>Aaa	p.E2226K	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.	2226					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						TCATCTTCTTCACTACTGGCT	0.408000														136			31		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61848091	61848091	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61848091C>T	uc001jky.3	-	28	3692	c.3354G>A	c.(3352-3354)ggG>ggA	p.G1118G	ANK3_uc001jkw.3_Silent_p.G252G|ANK3_uc009xpa.3_Silent_p.G252G|ANK3_uc001jkx.3_Silent_p.G296G|ANK3_uc010qih.2_Silent_p.G1119G|ANK3_uc001jkz.4_Silent_p.G1112G|ANK3_uc001jla.1_Silent_p.G184G|ANK3_uc001jlb.1_Silent_p.G636G	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1118					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						TACGCTTTTTCCCTAACTCTT	0.393000														98			9		0	0	1	0	0
GLB1L	79411	broad.mit.edu	37	2	220108019	220108019	+	Silent	SNP	G	A	A	rs13388808		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220108019G>A	uc002vkm.3	-	2	329	c.90C>T	c.(88-90)ttC>ttT	p.F30F	GLB1L_uc010zkx.2_Silent_p.F30F|GLB1L_uc002vkn.3_Silent_p.F30F|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.2_5'Flank|STK16_uc010fwf.3_5'Flank|STK16_uc002vkp.2_5'Flank	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	30					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TATCCACTACGAACGACCGAG	0.602000														75			32		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169842719	169842719	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169842719G>A	uc002ueo.1	-	9	1110	c.984C>T	c.(982-984)ttC>ttT	p.F328F		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	328	ABC transmembrane type-1 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GACACCACACGAATCCAGTAA	0.453000														76			34		0	0	1	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1506656	1506656	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:1506656G>A	uc010xgq.1	-	11	1396	c.1077C>T	c.(1075-1077)ccC>ccT	p.P359P	ADAMTSL5_uc010dsl.2_Silent_p.P118P|ADAMTSL5_uc002ltd.2_Silent_p.P349P	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	Homo sapiens ADAMTS-like 5 (ADAMTSL5), mRNA.	349	NTR.					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		AGGGTGGGCAGGGGTCTGTGG	0.682000														5			5		0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4525644	4525644	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4525644C>T	uc002mas.3	-	6	773	c.720_splice	c.e6+1	p.L240_splice		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	240						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CGGGCTCTCACCAGCTCCAGC	0.637000														50			12		0	0	1	0	0
TM4SF19	116211	broad.mit.edu	37	3	196053858	196053858	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:196053858C>T	uc010iad.2	-	2	405	c.247G>A	c.(247-249)Ggc>Agc	p.G83S	TM4SF19_uc003fwj.3_Non-coding_Transcript|TM4SF19_uc003fwl.2_Missense_Mutation_p.G83S|TM4SF19_uc021xjs.1_Missense_Mutation_p.G83S|TM4SF19_uc011btv.2_Intron	NM_001204897	NP_001191826	Q96DZ7	T4S19_HUMAN	Homo sapiens transmembrane 4 L six family member 19 (TM4SF19), transcript variant 2, mRNA.	83						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CTGAAGCAGCCGTATCTCCAG	0.512000														25			8		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15637062	15637062	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:15637062C>T	uc001rcv.2	+	1	700	c.230C>T	c.(229-231)aCt>aTt	p.T77I	PTPRO_uc001rcw.2_Missense_Mutation_p.T77I|PTPRO_uc001rcu.2_Missense_Mutation_p.T77I	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	77	Fibronectin type-III 1.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTCAACAGCACTTTGCCTCCT	0.393000														54			21		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33585684	33585684	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:33585684C>T	uc021vft.1	+	26	4044	c.4021C>T	c.(4021-4023)Caa>Taa	p.Q1341*	LTBP1_uc002rou.3_Nonsense_Mutation_p.Q1015*|LTBP1_uc002rov.3_Nonsense_Mutation_p.Q962*|LTBP1_uc010ymz.2_Nonsense_Mutation_p.Q973*|LTBP1_uc010yna.2_Nonsense_Mutation_p.Q920*|LTBP1_uc010ynb.2_Nonsense_Mutation_p.Q239*	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1341					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGATGTAGATCAACCCAAAGA	0.403000														78			26		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120989342	120989342	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:120989342C>T	uc010rzo.2	+	5	1118	c.1118C>T	c.(1117-1119)tCa>tTa	p.S373L		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	373	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGCAGAGGTTCAGCCGTCTCC	0.537000														102			11		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13919431	13919431	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13919431C>T	uc003jfd.2	-	6	871	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	277	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)					TCATCCGCTTCCTTCAGCAGC	0.483000									Kartagener syndrome					274			23		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45670725	45670725	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45670725C>T	uc002zeg.1	-	9	1361	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	DNMT3L_uc002zeh.1_Missense_Mutation_p.E293K	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	293					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TCCAGGTCTTCCTTGTTCAGC	0.642000														69			19		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518403	113518403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:113518403G>A	uc010ljy.1	-	3	2775	c.2744C>T	c.(2743-2745)cCt>cTt	p.P915L		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	915					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTGGAAAAAGGAGAGCTATT	0.403000														101			34		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731606	92731606	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92731606C>T	uc003umf.3	-	2	4075	c.3805G>A	c.(3805-3807)Gat>Aat	p.D1269N	SAMD9_uc003umg.3_Missense_Mutation_p.D1269N|SAMD9_uc022ahg.1_Missense_Mutation_p.D1269N	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1269						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)			TCAAAAAAATCAAAGGACTTT	0.313000														65			21		0	0	1	0	0
CPEB3	22849	broad.mit.edu	37	10	93902842	93902843	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:93902842_93902843GG>AA	uc001khw.2	-	5	1600_1601	c.1396_1397CC>TT	c.(1396-1398)cct>TTt	p.P466F	CPEB3_uc001khu.2_Missense_Mutation_p.P475F|CPEB3_uc001khv.2_Missense_Mutation_p.P452F|CPEB3_uc010qnn.2_Missense_Mutation_p.P452F	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	466	RRM 1.						RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TACTACGAGAGGTCCAAACCTG	0.401000														57			22		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46827113	46827113	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46827113G>A	uc003oyo.3	-	16	2816	c.2527C>T	c.(2527-2529)Cct>Tct	p.P843S	GPR116_uc011dwj.1_Missense_Mutation_p.P398S|GPR116_uc011dwk.1_Missense_Mutation_p.P272S|GPR116_uc003oyp.3_Missense_Mutation_p.P701S|GPR116_uc003oyq.3_Missense_Mutation_p.P843S|GPR116_uc010jzi.1_Missense_Mutation_p.P515S	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	843					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAGGACAAAGGAGGGCTATCT	0.448000														40			20		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935849	30935849	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:30935849G>A	uc002nsu.1	+	1	1518	c.1380G>A	c.(1378-1380)atG>atA	p.M460I	ZNF536_uc010edd.1_Missense_Mutation_p.M460I	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGCTGCCCATGAAGGAGAAGG	0.642000														55			15		0	0	1	0	0
DEFA4	1669	broad.mit.edu	37	8	6794376	6794376	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:6794376G>T	uc003wqu.1	-	1	97	c.46C>A	c.(46-48)Cag>Aag	p.Q16K		NM_001925	NP_001916	P12838	DEF4_HUMAN	Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.	16					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GCCCGGACCTGGAGGGCTACC	0.607000														44			7		8.12818e-05	8.13908e-05	1	1	0
VOPP1	81552	broad.mit.edu	37	7	55560108	55560108	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55560108G>A	uc003tqs.3	-	3	378	c.195C>T	c.(193-195)ttC>ttT	p.F65F	VOPP1_uc003tqq.3_Silent_p.F56F|VOPP1_uc010kzh.3_Silent_p.F62F|VOPP1_uc010kzi.3_Silent_p.F48F|VOPP1_uc011kcr.2_5'UTR	NM_030796	NP_110423	Q96AW1	VOPP1_HUMAN	Homo sapiens vesicular, overexpressed in cancer, prosurvival protein 1 (VOPP1), mRNA.	65					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						TCATCAGAAGGAACCTGAGGA	0.632000														19			5		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123021952	123021952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:123021952C>T	uc003egh.2	-	13	2674	c.2674G>A	c.(2674-2676)Gat>Aat	p.D892N	ADCY5_uc021xdd.1_Missense_Mutation_p.D542N|ADCY5_uc003egg.2_Missense_Mutation_p.D525N|ADCY5_uc003egi.1_Missense_Mutation_p.D451N	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	892					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding	p.G891G(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCCTGCTCATCGCCCAGGCTG	0.647000														40			19		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168138055	168138055	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:168138055C>T	uc010jjg.3	-	24	2984	c.2564G>A	c.(2563-2565)gGa>gAa	p.G855E	SLIT3_uc003mab.3_Missense_Mutation_p.G855E	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	855					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGGTTGGTTCCCAGCGCCCT	0.597000														11			3		0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2402289	2402289	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:2402289C>T	uc003slx.3	+	2	785	c.702C>T	c.(700-702)ttC>ttT	p.F234F	EIF3B_uc003sly.3_Silent_p.F234F|EIF3B_uc003slz.1_Silent_p.F195F|EIF3B_uc003sma.3_5'UTR	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	234	RRM.|Sufficient for interaction with EIF3E.|Sufficient for interaction with EIF3J.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGTATATTTTCCTGGAGTACG	0.587000														48			22		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158614085	158614085	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158614085C>T	uc001fst.1	-	29	4495	c.4296G>A	c.(4294-4296)ttG>ttA	p.L1432L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1432					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTTCTTCATCAAAGCCTCCA	0.413000														64			31		0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1441598	1441598	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1441598G>A	uc003jck.3	-	2	420	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	98					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGGGGACCAGGAAGGCACCTG	0.597000														36			13		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039162	184039162	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:184039162C>T	uc003fnp.3	+	9	1061	c.790C>T	c.(790-792)Ccg>Tcg	p.P264S	EIF4G1_uc003fno.2_Missense_Mutation_p.P205S|EIF4G1_uc010hxw.2_Missense_Mutation_p.P100S|EIF4G1_uc010hxx.3_Missense_Mutation_p.P271S|EIF4G1_uc003fnt.3_5'UTR|EIF4G1_uc010hxy.3_Missense_Mutation_p.P271S|EIF4G1_uc003fnq.3_Missense_Mutation_p.P177S|EIF4G1_uc003fnr.3_Missense_Mutation_p.P100S|EIF4G1_uc003fns.3_Missense_Mutation_p.P224S|EIF4G1_uc003fnv.4_Missense_Mutation_p.P264S|EIF4G1_uc003fnw.3_Missense_Mutation_p.P271S|EIF4G1_uc003fnx.3_Missense_Mutation_p.P68S	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	264					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTCGCCTTCTCCGACCCCATC	0.567000														86			29		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160789114	160789114	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160789114C>T	uc001fwu.3	+	6	1498	c.1448C>T	c.(1447-1449)tCa>tTa	p.S483L	LY9_uc001fwv.3_Missense_Mutation_p.S483L|LY9_uc001fww.3_Missense_Mutation_p.S393L|LY9_uc001fwy.1_Missense_Mutation_p.S295L|LY9_uc001fwz.3_Missense_Mutation_p.S135L	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	483					cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.S483*(2)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTCTCAGGTTCAGTCCCAGCC	0.493000														89			41		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107430033	107430033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107430033G>A	uc003ver.2	-	5	882	c.671C>T	c.(670-672)tCc>tTc	p.S224F	SLC26A3_uc003ves.2_Missense_Mutation_p.S189F	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	224					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTTGAGTTGGGAAACCAAAAC	0.393000														44			4		0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39374734	39374734	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:39374734G>A	uc010hhr.2	+	1	1050	c.912G>A	c.(910-912)ggG>ggA	p.G304G	CCR8_uc003cjm.2_Silent_p.G221G|CCR8_uc021wwe.1_Silent_p.G304G	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	304					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CTTTTGTTGGGGAGAAGTTCA	0.418000														83			38		0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150739141	150739141	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150739141G>A	uc003wil.4	+	14	1855	c.1762G>A	c.(1762-1764)Gcg>Acg	p.A588T	ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.3_Missense_Mutation_p.A571T|ABCB8_uc011kvd.2_Missense_Mutation_p.A483T|ABCB8_uc003wim.4_Missense_Mutation_p.A366T|ABCB8_uc003wik.4_Missense_Mutation_p.A571T	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA.	588	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCCGGGAAGCGAATGCTCA	0.612000														52			42		0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181420	128181420	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:128181420C>T	uc003ekk.1	-	2	2330	c.669G>A	c.(667-669)aaG>aaA	p.K223K	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Silent_p.K223K	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	223					protein folding		heat shock protein binding|unfolded protein binding	p.G222S(1)		kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TGAGCTGCTCCTTGCCGTTCA	0.642000														101			53		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326923	57326923	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57326923G>A	uc002qnu.2	-	6	3238	c.2887C>T	c.(2887-2889)Cgc>Tgc	p.R963C	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R934C|PEG3_uc002qnv.2_Missense_Mutation_p.R963C|PEG3_uc002qnw.2_Missense_Mutation_p.R839C|PEG3_uc002qnx.2_Missense_Mutation_p.R837C|PEG3_uc010etr.2_Missense_Mutation_p.R963C	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	963					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R963C(3)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTCGAGGGCGAAATGTTTGT	0.473000														163			60		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640122	179640122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179640122C>T	uc021vsy.1	-	27	6694	c.6469G>A	c.(6469-6471)Gct>Act	p.A2157T	TTN_uc021vsz.1_Missense_Mutation_p.A2111T|TTN_uc021vta.1_Missense_Mutation_p.A2111T|TTN_uc021vtb.1_Missense_Mutation_p.A2111T|TTN_uc002unb.2_Missense_Mutation_p.A2157T|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2157	Ig-like 10.						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)			GTTTCTCCAGCTATGTTGATG	0.433000														73			18		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280440	32280440	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32280440C>T	uc001bts.1	-	1	553	c.495G>A	c.(493-495)agG>agA	p.R165R	SPOCD1_uc001btu.3_Silent_p.R165R|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	165					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTCTGGCCTCCCTGGGCCTGA	0.617000														78			48		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52250002	52250002	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52250002C>T	uc021uyn.1	-	2	392	c.246G>A	c.(244-246)atG>atA	p.M82I	FPR1_uc002pxq.3_Missense_Mutation_p.M82I|FPR1_uc021uyo.1_Missense_Mutation_p.M82I	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	82					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)	CCTTCCTGACCATGAAGAATG	0.517000														91			15		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579753	44579753	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44579753G>A	uc003tlb.3	-	1	299	c.243C>T	c.(241-243)ctC>ctT	p.L81L	NPC1L1_uc011kbw.2_Silent_p.L81L|NPC1L1_uc003tlc.3_Silent_p.L81L|NPC1L1_uc003tld.3_Silent_p.L81L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	81					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)	GGCCGGTGTAGAGGCGGGGGC	0.612000														31			12		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92346066	92346066	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:92346066G>A	uc010tif.2	+	2	1317	c.951G>A	c.(949-951)ctG>ctA	p.L317L		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	317						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ACGTGCTGCTGAACTTTCACT	0.453000														111			32		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6065875	6065875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:6065875C>T	uc002wmr.3	-	11	2220	c.1431G>A	c.(1429-1431)atG>atA	p.M477I	FERMT1_uc002wmq.3_Missense_Mutation_p.M30I|FERMT1_uc010gbt.3_Missense_Mutation_p.M220I	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	477	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AGCTGTCTGCCATGGTTTTGC	0.493000														64			17		0	0	1	0	0
UBE2D3	7323	broad.mit.edu	37	4	103730987	103730987	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:103730987G>A	uc003hwk.3	-	2	511	c.50C>T	c.(49-51)cCt>cTt	p.P17L	UBE2D3_uc003hwi.3_Missense_Mutation_p.P17L|UBE2D3_uc003hwl.3_Missense_Mutation_p.P17L|UBE2D3_uc011cet.2_Missense_Mutation_p.P17L|UBE2D3_uc011ceu.2_Missense_Mutation_p.P17L|UBE2D3_uc003hwo.3_Missense_Mutation_p.P17L|UBE2D3_uc003hwp.3_Missense_Mutation_p.P17L|UBE2D3_uc003hwq.3_Missense_Mutation_p.P19L|UBE2D3_uc003hwr.3_Missense_Mutation_p.P17L	NM_181887	NP_871620	P61077	UB2D3_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2D 3 (UBE2D3), transcript variant 3, mRNA.	17					BMP signaling pathway|DNA repair|apoptosis|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity	p.R17S(1)		kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		TTGTGCTGGAGGGTCACGGGC	0.383000														109			47		0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169663768	169663768	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:169663768C>T	uc011bpp.2	-	1		c.4035G>A								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		TGGCCAGATTCACAGAGCATT	0.498000														152			12		0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105252524	105252525	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:105252524_105252525CC>TT	uc003dvx.3	+	4	1233_1234	c.537_538CC>TT	c.(535-540)cccctt>ccTTtt	p.L180F	ALCAM_uc003dvw.2_Missense_Mutation_p.L180F|ALCAM_uc003dvy.3_Missense_Mutation_p.L180F|ALCAM_uc011bhh.1_Missense_Mutation_p.L129F|ALCAM_uc010hpp.3_5'UTR	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	180	Ig-like V-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.P179H(1)|p.P179L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGCTACATCCCCTTGAAGGAGG	0.446000														90			29		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9321515	9321515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:9321515G>A	uc001qvl.3	-	16	2086	c.2057C>T	c.(2056-2058)tCa>tTa	p.S686L	PZP_uc009zgl.3_Missense_Mutation_p.S555L|PZP_uc010sgo.1_5'Flank|PZP_uc009zgm.1_Missense_Mutation_p.S18L	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGGGATGACTGAACACGACTT	0.368000														86			36		0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21652496	21652496	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21652496G>A	uc001rex.3	-	2	357	c.9C>T	c.(7-9)tcC>tcT	p.S3S	RECQL_uc001rey.3_Silent_p.S3S|GOLT1B_uc001rez.2_5'Flank|GOLT1B_uc009zis.2_5'Flank|GOLT1B_uc009zit.2_5'Flank|GOLT1B_uc009ziu.2_5'Flank	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	3					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						AACCTGAAACGGACGCCATTC	0.264000								Other identified genes with known or suspected DNA repair function						77			25		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50464873	50464873	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:50464873C>T	uc001vdk.2	+	0	329	c.147C>T	c.(145-147)gtC>gtT	p.V49V						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		GTGCAGCTGTCCTTGGATTTG	0.488000														30			15		0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52146630	52146630	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52146630C>T	uc002pxf.4	-	6	1289	c.1169G>A	c.(1168-1170)aGc>aAc	p.S390N		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	390					cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		CTCAGCCCTGCTCTGCTGGGG	0.607000														62			6		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103471420	103471421	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:103471420_103471421CC>TT	uc001dum.3	-	17	2172_2173	c.1854_1855GG>AA	c.(1852-1857)ccgggt>ccAAgt	p.G619S	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.G607S|COL11A1_uc001dun.3_Missense_Mutation_p.G568S|COL11A1_uc009weh.3_Missense_Mutation_p.G491S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	607	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	p.P618P(4)|p.P606P(2)		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)		CCTGGCAGACCCGGAAGTCCAT	0.361000														123			23		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38813452	38813452	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38813452G>A	uc021yzh.1	+	35	5057	c.4948G>A	c.(4948-4950)Gga>Aga	p.G1650R	DNAH8_uc003ooe.2_Missense_Mutation_p.G1433R	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGCATTTAAGGGAAAAGGAGA	0.418000														126			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179456479	179456479	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179456479C>T	uc021vsy.1	-	251	52588	c.52363G>A	c.(52363-52365)Gac>Aac	p.D17455N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D11150N|TTN_uc021vta.1_Missense_Mutation_p.D11083N|TTN_uc021vtb.1_Missense_Mutation_p.D10958N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18382	Ig-like 103.						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)			TTAATCCAGTCCTGGGTGCCT	0.413000														99			39		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71025259	71025259	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71025259C>A	uc002ezr.3	-	24	3977	c.3826G>T	c.(3826-3828)Gaa>Taa	p.E1276*		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1276								p.E1276*(1)|p.E1228*(1)		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)				TTTCTTAGTTCTTTTTCTTCA	0.473000														78			32		4.34311e-12	4.36062e-12	1	1	0
ATPBD4	89978	broad.mit.edu	37	15	35742927	35742927	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:35742927G>A	uc001zja.3	-	4	526	c.464C>T	c.(463-465)tCa>tTa	p.S155L		NM_080650	NP_542381	Q7L8W6	ATBD4_HUMAN	Homo sapiens ATP binding domain 4 (ATPBD4), transcript variant 1, mRNA.	155										endometrium(1)|kidney(1)|lung(9)	11		all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07)		all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		AATGTTAGATGATATCATCTC	0.388000														85			32		0	0	1	0	0
C10orf76	79591	broad.mit.edu	37	10	103755098	103755098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:103755098G>A	uc009xwy.1	-	15	1267	c.1165C>T	c.(1165-1167)Cac>Tac	p.H389Y		NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.	389						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TTGCCACTGTGAAGCCTGTGT	0.378000														152			14		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24834974	24834974	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:24834974C>T	uc001iru.4	+	20	5956	c.5553C>T	c.(5551-5553)gcC>gcT	p.A1851A	KIAA1217_uc001irs.3_Silent_p.A1172A|KIAA1217_uc001irt.4_Silent_p.A1217A|KIAA1217_uc010qcy.2_Silent_p.A1282A|KIAA1217_uc010qcz.2_Silent_p.A1257A|KIAA1217_uc001irw.3_3'UTR|KIAA1217_uc001irz.3_3'UTR|KIAA1217_uc001irx.3_3'UTR|KIAA1217_uc001iry.3_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1851	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCACTCTGCCTCCCTCATCC	0.493000														144			29		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79290481	79290481	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:79290481C>T	uc002beq.3	-	19	3346	c.2971G>A	c.(2971-2973)Gag>Aag	p.E991K	RASGRF1_uc002bep.3_Missense_Mutation_p.E975K|RASGRF1_uc010blm.1_Missense_Mutation_p.E900K|RASGRF1_uc002ber.4_Missense_Mutation_p.E975K|RASGRF1_uc010unh.1_Missense_Mutation_p.E386K|RASGRF1_uc002beo.3_Missense_Mutation_p.E207K	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	993					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTCAGGAGCTCCGGGTCGTGC	0.587000														150			29		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3321352	3321352	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3321352G>A	uc001akf.3	+	6	1016	c.934G>A	c.(934-936)Gac>Aac	p.D312N	PRDM16_uc001ake.3_Missense_Mutation_p.D312N|PRDM16_uc009vlh.3_Missense_Mutation_p.D13N|PRDM16_uc001akc.3_Missense_Mutation_p.D312N	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	312					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GTACAAATGCGACCAGTGTCC	0.607000			T	EVI1	"""MDS, AML"""									48			28		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6711049	6711049	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6711049G>A	uc002mfm.3	-	11	1490	c.1428C>T	c.(1426-1428)ctC>ctT	p.L476L		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	476					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCATTCGCAGGAGGAAGTTGA	0.597000														187			41		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13793685	13793685	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13793685C>T	uc003jfd.2	-	48	8205	c.8163G>A	c.(8161-8163)aaG>aaA	p.K2721K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2721	AAA 3 (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)					AGAACTGCCTCTTGAGTCTTT	0.498000									Kartagener syndrome					123			50		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11725780	11725780	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11725780G>A	uc002gne.3	+	46	8944	c.8876G>A	c.(8875-8877)gGa>gAa	p.G2959E	DNAH9_uc010coo.3_Missense_Mutation_p.G2253E	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2959	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCCCTGTGGGAAACAAGCTA	0.542000														89			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583227	179583227	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179583227C>T	uc021vsy.1	-	81	21099	c.20874G>A	c.(20872-20874)gtG>gtA	p.V6958V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V3619V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7885	Ig-like 51.						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)			TTATCCAGCTCACTGAGATTG	0.428000														58			8		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768152	77768152	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:77768152C>T	uc003yau.2	+	9	9382	c.8995C>T	c.(8995-8997)Caa>Taa	p.Q2999*	ZFHX4_uc003yaw.1_Nonsense_Mutation_p.Q2954*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2954						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)			CATGATCAATCAAGGCGGAAC	0.473000										HNSCC(33;0.089)				15			7		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130282158	130282158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130282158C>T	uc010htl.3	+	1	342	c.311C>T	c.(310-312)tCc>tTc	p.S104F		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	104	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATTGGCGGGTCCCTGCAGATA	0.493000														39			9		0	0	1	0	0
GNGT2	2793	broad.mit.edu	37	17	47284190	47284190	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:47284190C>T	uc002ioo.2	-	3	446	c.139G>A	c.(139-141)Gat>Aat	p.D47N	GNGT2_uc021tzo.1_Missense_Mutation_p.D47N|GNGT2_uc021tzp.1_Missense_Mutation_p.D47N|GNGT2_uc021tzq.1_Missense_Mutation_p.D47N	NM_031498	NP_113686	O14610	GBGT2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 (GNGT2), transcript variant 1, mRNA.	47					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			AGAAAAGGATCGTTTCCTGCT	0.488000														90			28		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126219633	126219633	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:126219633G>A	uc010hsi.2	-	11	1284	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	UROC1_uc003eiz.2_Silent_p.F350F	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	350					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AGCCGCCATTGAACGGGTTGT	0.617000														79			37		0	0	1	0	0
PLEK2	26499	broad.mit.edu	37	14	67864445	67864445	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:67864445G>A	uc001xjh.1	-	1	193	c.141C>T	c.(139-141)ccC>ccT	p.P47P		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	Homo sapiens pleckstrin 2 (PLEK2), mRNA.	47	PH 1.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		TCCGGCCCTTGGGAGGGGTCA	0.602000														25			8		0	0	1	0	0
LCE1E	353135	broad.mit.edu	37	1	152760099	152760099	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152760099G>A	uc021ozg.1	+	0	324	c.324G>A	c.(322-324)ggG>ggA	p.G108G	LCE1E_uc001fan.3_Silent_p.G108G	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	Homo sapiens late cornified envelope 1E (LCE1E), mRNA.	108	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGAGGGGGCAGCGGCC	0.617000														130			43		0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748346	68748346	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:68748346G>A	uc010rqf.2	-	0	110	c.110C>T	c.(109-111)aCc>aTc	p.T37I		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	37						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCACAGGCAGGTGAACATGGC	0.572000														52			27		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79434665	79434665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:79434665G>A	uc001xun.3	+	10	2490	c.1999G>A	c.(1999-2001)Gga>Aga	p.G667R	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.G792R	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane		p.S666S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCATCGGAGCGGACAGATCGA	0.522000														52			23		0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1371776	1371776	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:1371776G>A	uc002fsp.3	-	25	2845	c.2625C>T	c.(2623-2625)gcC>gcT	p.A875A	MYO1C_uc002fsn.3_Silent_p.A856A|MYO1C_uc002fso.3_Silent_p.A840A|MYO1C_uc010vqj.1_Silent_p.A840A	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	875					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			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)		CACTAGCCACGGCCTTCTGCT	0.587000														26			19		0	0	1	0	0
EPN3	55040	broad.mit.edu	37	17	48613885	48613885	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48613885G>A	uc010wms.2	+	1	403	c.215G>A	c.(214-216)gGg>gAg	p.G72E	EPN3_uc002ira.4_5'UTR|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_5'UTR			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	208	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCTCCGGCGGGGGCGAGGGCC	0.622000														61			21		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60814350	60814350	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:60814350C>T	uc010dds.3	-	6	1278	c.993G>A	c.(991-993)gaG>gaA	p.E331E	MARCH10_uc010ddr.3_Silent_p.E293E|MARCH10_uc002jag.4_Silent_p.E293E|MARCH10_uc002jah.2_Silent_p.E292E|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	293							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ACTGGGTTTCCTCTTCAGTGT	0.478000														431			37		0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64570110	64570110	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64570110G>A	uc001obh.3	-	2	262	c.170C>T	c.(169-171)tCc>tTc	p.S57F	MAP4K2_uc001obi.3_Missense_Mutation_p.S57F|MAP4K2_uc010rnp.1_Missense_Mutation_p.S57F	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	57	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	Golgi membrane|basolateral plasma membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CTGCTGGAGGGAGCTGATGTC	0.612000														28			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725003	140725003	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140725003G>A	uc003ljm.2	+	0	1403	c.1403G>A	c.(1402-1404)gGa>gAa	p.G468E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.G468E	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	470	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G468E(1)		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)			AACCCCAGAGGAGCCTCCATC	0.537000														245			33		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43936011	43936011	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:43936011G>A	uc003bdy.2	-	27	4189	c.3875C>T	c.(3874-3876)cCc>cTc	p.P1292L	EFCAB6_uc003bdz.2_Missense_Mutation_p.P1140L|EFCAB6_uc010gzi.2_Missense_Mutation_p.P1140L	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ACTCACACAGGGGTGGCTCTG	0.612000														57			12		0	0	1	0	0
MEF2A	4205	broad.mit.edu	37	15	100214787	100214787	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:100214787C>T	uc010urw.2	+	4	945	c.586C>T	c.(586-588)Cct>Tct	p.P196S	MEF2A_uc002bve.3_Missense_Mutation_p.P194S|MEF2A_uc002bvg.3_Missense_Mutation_p.P194S|MEF2A_uc010urv.2_Missense_Mutation_p.P126S|MEF2A_uc010bos.3_Missense_Mutation_p.P194S|MEF2A_uc002bvf.3_Missense_Mutation_p.P196S|MEF2A_uc002bvi.3_Missense_Mutation_p.P194S|MEF2A_uc010bot.3_Missense_Mutation_p.P126S	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant 1, mRNA.	196					BMK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|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|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	RNA polymerase II regulatory region sequence-specific DNA binding|SMAD binding|activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.P196S(3)|p.P194S(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TCCTGGAGCTCCTCAGAGACC	0.433000														182			14		0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46306722	46306722	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46306722G>A	uc003cpl.2	+	2	1203	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	CCR3_uc003cpg.2_Missense_Mutation_p.E25K|CCR3_uc003cpk.2_Missense_Mutation_p.E46K|CCR3_uc003cpi.2_Missense_Mutation_p.E25K|CCR3_uc010hjb.2_Missense_Mutation_p.E43K|CCR3_uc003cpj.2_Missense_Mutation_p.E25K|CCR3_uc021wwz.1_Missense_Mutation_p.E25K	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	25					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CCTGCTCTGTGAAAAAGCTGA	0.502000														41			17		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337746	19337746	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19337746C>T	uc002nlz.3	+	6	1623	c.1524C>T	c.(1522-1524)gcC>gcT	p.A508A	NCAN_uc010ecc.1_Silent_p.A72A	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	508					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGGCCAGCGCCCAGCCCCCCA	0.652000														28			17		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123887120	123887120	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123887120C>T	uc010sac.2	+	0	839	c.839C>T	c.(838-840)cCc>cTc	p.P280L		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T279M(2)|p.T279T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGCTGACGCCCCTTCTCAAC	0.463000														89			22		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501772	90501772	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90501772C>T	uc004app.4	+	3	2405	c.2370C>T	c.(2368-2370)ctC>ctT	p.L790L	FAM75E1_uc004apo.1_Silent_p.L602L	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	790						integral to membrane											GCTCCTGGCTCATGGCCAAAT	0.577000														65			6		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52591936	52591937	+	Missense_Mutation	DNP	CC	TT	TT	rs139421363		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:52591936_52591937CC>TT	uc002xws.2	-	7	1511_1512	c.1173_1174GG>AA	c.(1171-1176)gcggag>gcAAag	p.E392K	BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Missense_Mutation_p.E340K|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Intron|BCAS1_uc010gil.1_Missense_Mutation_p.E392K	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	392						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ACATTCTCCTCCGCACCTGTGG	0.411000														33			11		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526084	189526084	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:189526084C>T	uc003fry.2	+	3	437	c.348C>T	c.(346-348)ctC>ctT	p.L116L	TP63_uc003frx.2_Silent_p.L116L|TP63_uc003frz.2_Silent_p.L116L|TP63_uc010hzc.1_Silent_p.L116L|TP63_uc003fsa.2_Silent_p.L22L|TP63_uc003fsb.2_Silent_p.L22L|TP63_uc003fsc.2_Silent_p.L22L|TP63_uc003fsd.2_Silent_p.L22L|TP63_uc021xir.1_Silent_p.L22L|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_5'UTR	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	116					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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCTGGGGCTCCTGAACAGCA	0.572000										HNSCC(45;0.13)				82			39		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56388020	56388020	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56388020G>A	uc002ivx.4	-	19	4423	c.3552C>T	c.(3550-3552)ccC>ccT	p.P1184P	BZRAP1_uc010dcs.3_Silent_p.P1124P|BZRAP1_uc010wnt.2_Silent_p.P1184P	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1184						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGCCAGTGAGGGAGCTGCGG	0.672000														24			8		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981225	7981225	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7981225C>T	uc001mfv.1	-	1	1951	c.1934G>A	c.(1933-1935)gGg>gAg	p.G645E		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	645							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCCTCTGTCCCTCTGCCTTT	0.383000														41			13		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1993972	1993972	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:1993972C>T	uc021qsx.1	-	10	1465	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.E331K	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	412	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AACACCGGCTCGTAGTCCTCC	0.567000														21			8		0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13529186	13529186	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:13529186G>A	uc001rbs.2	-	1	406	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L						Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA.											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		cctccAAGCAGGTCAGAGAAC	0.498000														77			20		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109318451	109318451	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:109318451C>T	uc010agk.2	+	1	868	c.246C>T	c.(244-246)ctC>ctT	p.L82L	MYO16_uc001vqt.1_Silent_p.L60L	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	60					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACTTCAACCTCACGGACATGC	0.433000														24			8		0	0	1	0	0
HAUS7	55559	broad.mit.edu	37	X	152728076	152728076	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:152728076G>A	uc004fhn.2	-	3	934	c.376C>T	c.(376-378)Ctc>Ttc	p.L126F	HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript|HAUS7_uc004fho.2_Missense_Mutation_p.L126F|HAUS7_uc004fhp.2_Non-coding_Transcript|HAUS7_uc011myq.1_Non-coding_Transcript	NM_017518	NP_059988	Q99871	HAUS7_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 7 (HAUS7), mRNA.	126					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						ACCTTGAGGAGCTCCTGGTCA	0.587000														12			12		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79069905	79069905	+	Missense_Mutation	SNP	C	T	T	rs148218299	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:79069905C>T	uc002bej.4	-	8	1559	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.D450N	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	450	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCAGGAGGGTCGTCCAGGCAC	0.652000														7			14		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28467325	28467325	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:28467325G>A	uc001zbj.3	-	35	5607	c.5501C>T	c.(5500-5502)gCt>gTt	p.A1834V		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1834					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.N1833K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTGAGCAGAAGCATTCATATC	0.493000														57			16		0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35450246	35450246	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35450246G>A	uc002nxh.1	-	3	900	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGTTTGCACTGAACTCAGAGC	0.507000														219			122		0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6433541	6433541	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6433541C>T	uc010dus.3	-	0	250	c.164G>A	c.(163-165)gGc>gAc	p.G55D	SLC25A41_uc010dut.3_5'UTR	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	Homo sapiens solute carrier family 25, member 41 (SLC25A41), mRNA.	55					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						ATGCATGTGGCCAAACGCGTA	0.582000														74			23		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88300912	88300912	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:88300912G>A	uc001pcq.3	-	6	2139	c.1939C>T	c.(1939-1941)Cag>Tag	p.Q647*	GRM5_uc009yvm.3_Nonsense_Mutation_p.Q647*	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	647					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CCAATTCTCTGAAGGTAGCAG	0.493000														33			5		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56373451	56373451	+	Silent	SNP	G	A	A	rs148970920		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56373451G>A	uc002qmd.4	+	4	2534	c.2112G>A	c.(2110-2112)acG>acA	p.T704T	NLRP4_uc002qmf.3_Silent_p.T629T|NLRP4_uc010etf.3_Silent_p.T535T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	704							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCACCCTCACGAAACTCTCTC	0.463000														94			45		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332700	70332700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70332700C>T	uc001oqc.3	-	20	3612	c.3500G>A	c.(3499-3501)gGa>gAa	p.G1167E	SHANK2_uc010rqn.2_Missense_Mutation_p.G643E|SHANK2_uc001opz.3_Missense_Mutation_p.G638E|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	854					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCCTTTGGGTCCCTGTTGAGA	0.607000														79			50		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648595	41648595	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:41648595C>T	uc003gvz.4	+	16	2922	c.2505C>T	c.(2503-2505)ttC>ttT	p.F835F	LIMCH1_uc003gwe.4_Silent_p.F450F|LIMCH1_uc003gvu.4_Silent_p.F450F|LIMCH1_uc003gvv.4_Silent_p.F450F|LIMCH1_uc003gvw.4_Silent_p.F450F|LIMCH1_uc003gvx.4_Silent_p.F438F|LIMCH1_uc003gvy.4_Silent_p.F279F|LIMCH1_uc003gwa.4_Silent_p.F291F|LIMCH1_uc011byu.2_Silent_p.F284F|LIMCH1_uc003gwc.4_Silent_p.F296F|LIMCH1_uc003gwd.4_Silent_p.F284F|LIMCH1_uc011byv.2_Silent_p.F201F	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	450					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTGAGAGGTTCACCATCAGTG	0.493000														182			54		0	0	1	0	0
ARL5B	221079	broad.mit.edu	37	10	18964126	18964126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:18964126C>T	uc001iqd.1	+	5	775	c.521C>T	c.(520-522)tCc>tTc	p.S174F	AK022915_uc001iqe.3_5'Flank	NM_178815	NP_848930	Q96KC2	ARL5B_HUMAN	Homo sapiens ADP-ribosylation factor-like 5B (ARL5B), mRNA.	174					small GTPase mediated signal transduction	intracellular	GTP binding			lung(1)|ovary(1)	2						TGGATGACCTCCCGGATTGGT	0.343000														84			11		0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58125676	58125676	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:58125676G>A	uc010rke.2	-	0	867	c.867C>T	c.(865-867)acC>acT	p.T289T		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGTTCCTCAGGGTATAGACTA	0.388000														136			63		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756783	71756783	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:71756783G>A	uc003kce.1	-	1	727	c.541C>T	c.(541-543)Cac>Tac	p.H181Y		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGGCCCGGGTGGACTTTGGGG	0.662000														118			46		0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74825629	74825629	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:74825629C>T	uc004air.3	+	3	620	c.411C>T	c.(409-411)acC>acT	p.T137T	GDA_uc011lse.2_Silent_p.T63T|GDA_uc004aiq.3_Silent_p.T137T|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Silent_p.T63T|GDA_uc004ais.3_Silent_p.T95T|GDA_uc004ait.1_Silent_p.T63T	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	137					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ATGGAACAACCACAGCTTGTT	0.418000														51			11		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17668547	17668547	+	Silent	SNP	C	T	T	rs138788718	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17668547C>T	uc001baj.2	+	6	790	c.762C>T	c.(760-762)ctC>ctT	p.L254L	PADI4_uc009vpc.2_Silent_p.L254L	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	254					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TGGAGGCCCTCGCTTTCCCGG	0.617000														54			21		0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3850757	3850757	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3850757G>A	uc002fwy.2	-	7	1196	c.1023C>T	c.(1021-1023)acC>acT	p.T341T	ATP2A3_uc002fwz.2_Silent_p.T341T|ATP2A3_uc002fxa.2_Silent_p.T341T|ATP2A3_uc002fxb.2_Silent_p.T341T|ATP2A3_uc002fxc.2_Silent_p.T341T|ATP2A3_uc002fxd.2_Silent_p.T341T|ATP2A3_uc002fwx.2_Silent_p.T341T	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	341					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TGCAGCCCAGGGTCTCCACGG	0.647000														43			33		0	0	1	0	0
SPACA1	81833	broad.mit.edu	37	6	88769219	88769219	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:88769219G>A	uc003pmn.3	+	4	640	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	175						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		AGTACGCAAGGAAAGTCACCC	0.343000														44			9		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52604151	52604151	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:52604151T>A	uc002lfs.3	-	5	556	c.384A>T	c.(382-384)agA>agT	p.R128S	CCDC68_uc002lft.3_Missense_Mutation_p.R128S	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	128								p.L127L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GGGCCACGTTTCTCAGAGCTG	0.428000														82			9		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2416007	2416007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:2416007G>A	uc001aji.1	+	4	1037	c.763G>A	c.(763-765)Gac>Aac	p.D255N	PLCH2_uc010nyz.2_Missense_Mutation_p.D44N|PLCH2_uc009vle.1_Missense_Mutation_p.D44N|PLCH2_uc001ajj.1_Missense_Mutation_p.D44N|PLCH2_uc001ajk.1_Missense_Mutation_p.D44N	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	256					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			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)		CAACCACAAGGACCACCTGGA	0.622000														44			17		0	0	1	0	0
LHFPL3	375612	broad.mit.edu	37	7	104377342	104377342	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:104377342G>A	uc003vce.3	+	1	790	c.666G>A	c.(664-666)ctG>ctA	p.L222L	LHFPL3_uc003vcf.3_Silent_p.L222L	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 3 (LHFPL3), mRNA.	208						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						CAGAGGAACTGAAGGCAGAAA	0.418000														12			6		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84553916	84553916	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:84553916C>T	uc002bjz.4	+	9	1248	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.Q342*	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	342						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CATCAGTCATCAGTGGAGACA	0.468000														48			12		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200971323	200971323	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:200971323C>T	uc001gvs.2	-	8	1685	c.1368G>A	c.(1366-1368)atG>atA	p.M456I	KIF21B_uc009wzl.2_Missense_Mutation_p.M456I|KIF21B_uc001gvr.2_Missense_Mutation_p.M456I|KIF21B_uc010ppn.2_Missense_Mutation_p.M456I|KIF21B_uc001gvt.1_3'UTR	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	456					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCTCCTGGCTCATGAGCTGGG	0.627000														58			27		0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135487526	135487526	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135487526G>A	uc004cbq.1	-	18	2409	c.2257C>T	c.(2257-2259)Ccc>Tcc	p.P753S	DDX31_uc010mzu.1_Missense_Mutation_p.P680S	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	753						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		AGATTCCTGGGGGCATCTCTT	0.552000														131			32		0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182822450	182822450	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:182822450C>T	uc001gpr.3	+	4	549	c.374C>T	c.(373-375)tCt>tTt	p.S125F	DHX9_uc001gps.3_5'UTR	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	125	Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GAAAATAATTCTGAGGTAGGG	0.393000														75			28		0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16740853	16740853	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:16740853C>T	uc010exm.2	-	9	859	c.711_splice	c.e9-1	p.P237_splice	FAM49A_uc002rck.2_Splice_Site_p.P237_splice	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	237						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CTTCTGTACTCCCTGCAAGAG	0.502000														82			28		0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5014844	5014844	+	Missense_Mutation	SNP	G	A	A	rs140396306		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:5014844G>A	uc001iho.3	+	11	1590	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	AKR1C3_uc001ihr.3_Intron|AKR1C3_uc001ihq.3_Missense_Mutation_p.R250Q	NM_001353	NP_001344	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1), mRNA.	250					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	AAGCACAAGCGAACCCCAGCC	0.597000														127			31		0	0	1	0	0
WASH2P	375260	broad.mit.edu	37	2	114355129	114355129	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:114355129G>A	uc002tkh.3	+	3	564	c.506G>A	c.(505-507)cGc>cAc	p.R169H	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript|WASH2P_uc010fkz.1_Non-coding_Transcript|WASH2P_uc002tkf.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		GAGTCCATCCGCCAAGCTGGG	0.657000														19			3		0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23817804	23817804	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23817804G>A	uc001wjl.3	-	3	840	c.603C>T	c.(601-603)ttC>ttT	p.F201F	SLC22A17_uc010akk.3_Intron|SLC22A17_uc001wjm.3_Silent_p.F201F|SLC22A17_uc001wjn.3_Intron	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	201					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCAGGAACAGGAAGTGCCCTC	0.597000														124			30		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76573658	76573658	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:76573658C>T	uc002fex.1	+	18	3411	c.3272C>T	c.(3271-3273)cCt>cTt	p.P1091L	CNTNAP4_uc002feu.1_Missense_Mutation_p.P1087L|CNTNAP4_uc002fev.1_Missense_Mutation_p.P952L|CNTNAP4_uc010chb.1_Missense_Mutation_p.P1015L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1088	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TATCAAGAGCCTGATGTTGTT	0.348000														50			14		0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	74005167	74005167	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:74005167C>T	uc003uaq.3	+	23	2850	c.2457C>T	c.(2455-2457)ggC>ggT	p.G819G	GTF2IRD1_uc010lbq.3_Silent_p.G836G|GTF2IRD1_uc003uap.3_Silent_p.G804G|GTF2IRD1_uc003uar.1_Silent_p.G804G	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	819						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGGCCCTGGGCCTGAACCGGC	0.607000														29			16		0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101598755	101598755	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:101598755C>T	uc010yvt.1	+	15	1742	c.1740C>T	c.(1738-1740)atC>atT	p.I580I	NPAS2_uc002tap.1_Silent_p.I515I|NPAS2_uc010fit.1_Silent_p.I93I	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	515					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.G580R(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGACGCGGATCCTGCAGGCCA	0.547000														53			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9009648	9009648	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9009648C>T	uc002mkp.3	-	38	39282	c.39078G>A	c.(39076-39078)gaG>gaA	p.E13026E	MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13028	SEA 7.				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						GACGCATGTCCTCCCCATACT	0.542000														124			57		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160100247	160100247	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160100247C>T	uc001fvc.3	+	12	1819	c.1687C>T	c.(1687-1689)Cct>Tct	p.P563S	ATP1A2_uc001fvb.2_Missense_Mutation_p.P563S|ATP1A2_uc001fvd.3_Missense_Mutation_p.P299S|ATP1A2_uc009wtg.1_Missense_Mutation_p.P251S	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	563					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGAAAGTTTCCTCGGGGCTT	0.552000														82			9		0	0	1	0	0
PIGK	10026	broad.mit.edu	37	1	77620246	77620246	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:77620246G>A	uc001dhk.3	-	8	919	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	PIGK_uc010orj.2_Nonsense_Mutation_p.Q216*|PIGK_uc009wbx.3_Nonsense_Mutation_p.Q198*|PIGK_uc001dhl.1_Nonsense_Mutation_p.Q292*	NM_005482	NP_005473	Q92643	GPI8_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class K (PIGK), mRNA.	292					C-terminal protein lipidation|attachment of GPI anchor to protein|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	GPI-anchor transamidase activity|cysteine-type endopeptidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						GGATCCCTCTGAAAAAGATCA	0.358000														61			19		0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183097158	183097158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183097158C>T	uc003fli.1	-	2	292	c.202G>A	c.(202-204)Gag>Aag	p.E68K	MCF2L2_uc003flj.1_Missense_Mutation_p.E68K|MCF2L2_uc003flp.1_Missense_Mutation_p.E103K	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	68	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCCGAAAACTCTGGGAACGTG	0.532000														26			12		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37346323	37346323	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:37346323G>A	uc001caz.2	-	2	597	c.462C>T	c.(460-462)ccC>ccT	p.P154P	GRIK3_uc001cba.1_Silent_p.P154P	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	154					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGGCGTAGTCGGGGTAGAGGT	0.607000														118			48		0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205549800	205549800	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205549800C>T	uc001hcv.4	+	2	527	c.441C>T	c.(439-441)ttC>ttT	p.F147F	MFSD4_uc010prk.2_Intron|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.F92F	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	147					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TGCTCCATTTCTTCGTGGGCT	0.637000														168			15		0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154411258	154411258	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:154411258C>T	uc011efe.2	+	3	1390	c.867C>T	c.(865-867)ctC>ctT	p.L289L	OPRM1_uc011efb.2_Silent_p.L244L|OPRM1_uc011efd.2_Silent_p.L96L|OPRM1_uc011efc.1_Silent_p.L115L|OPRM1_uc003qpn.2_Silent_p.L196L|OPRM1_uc003qpo.1_Silent_p.L196L|OPRM1_uc011eff.1_Silent_p.L196L|OPRM1_uc011efg.1_Silent_p.L196L|OPRM1_uc011efi.2_Silent_p.L196L|OPRM1_uc011efh.1_Silent_p.L196L|OPRM1_uc003qpq.1_Silent_p.L196L|OPRM1_uc003qpr.2_Silent_p.L196L|OPRM1_uc003qpt.1_Silent_p.L196L|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Silent_p.L96L|OPRM1_uc003qpu.2_Silent_p.L96L	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	196					behavior|negative regulation of cell proliferation|sensory perception	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	ACTGGATCCTCTCTTCAGCCA	0.473000														60			46		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63525115	63525115	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:63525115C>T	uc002lkb.3	+	7	1725	c.1299C>T	c.(1297-1299)gtC>gtT	p.V433V	CDH7_uc002ljz.3_Silent_p.V433V|CDH7_uc002lka.3_Silent_p.V433V	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	433	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ACAGTGGGGTCATCACAACTG	0.388000														114			28		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143748286	143748286	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143748286C>T	uc011ktw.2	+	0	792	c.792C>T	c.(790-792)tcC>tcT	p.S264S		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CCCCCAAGTCCCGCCACCCTG	0.572000														131			60		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187042	140187042	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140187042C>T	uc003lhi.2	+	0	371	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.I90I|PCDHAC2_uc011daa.2_Silent_p.I90I	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	105	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGGGAGG	0.622000														96			40		0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71842984	71842984	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:71842984C>T	uc004eax.4	-	17	2236	c.1935G>A	c.(1933-1935)atG>atA	p.M645I	PHKA1_uc004eay.4_Missense_Mutation_p.M645I|PHKA1_uc011mqi.2_Missense_Mutation_p.M645I	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	645					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CATAATCATTCATCCAGTTGC	0.418000														28			42		0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227279	35227279	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:35227279G>A	uc001bxw.4	+	0	424	c.424G>A	c.(424-426)Gat>Aat	p.D142N	GJB4_uc001bxv.1_Missense_Mutation_p.D142N	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	142					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCCGCCGTGGATGCTGGCTT	0.612000														54			18		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42490132	42490132	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42490132C>T	uc002osh.3	-	5	644	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	ATP1A3_uc010xwf.2_Missense_Mutation_p.E175K|ATP1A3_uc010xwg.2_Missense_Mutation_p.E134K|ATP1A3_uc002osg.3_Missense_Mutation_p.E164K|ATP1A3_uc010xwh.2_Missense_Mutation_p.E177K			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	164					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TTCTCACCTTCCCGGATCACC	0.622000														119			31		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53666508	53666508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53666508C>T	uc001sck.2	+	5	1464	c.1373C>T	c.(1372-1374)tCt>tTt	p.S458F	ESPL1_uc001scj.2_Missense_Mutation_p.S133F	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	458					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCTGCAGCTTCTTACACCAGT	0.537000														389			128		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047558	42047558	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:42047558G>A	uc001cgz.4	-	3	4124	c.2911C>T	c.(2911-2913)Ctg>Ttg	p.L971L	HIVEP3_uc001cha.4_Silent_p.L971L|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	971	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGGTGCCCAGGGGTTTGGGG	0.617000														89			16		0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123302227	123302227	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:123302227G>A	uc003ieo.3	+	3	485	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	ADAD1_uc003iep.3_Missense_Mutation_p.E85K|ADAD1_uc003ieq.3_Missense_Mutation_p.E67K	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	85					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.E85K(2)|p.E85G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AATACCTAAGGAATTTATAAT	0.368000														84			33		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167039	140167039	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140167039C>T	uc003lhb.2	+	0	1164	c.1164C>T	c.(1162-1164)tcC>tcT	p.S388S	PCDHAC2_uc003lha.2_Silent_p.S388S|PCDHAC2_uc003lgz.3_Silent_p.S388S	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	403	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)			TGACTTGCTCCTTAATGCCCC	0.567000														116			61		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55449572	55449572	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55449572C>T	uc002qih.4	-	4	2045	c.1969G>A	c.(1969-1971)Gat>Aat	p.D657N	NLRP7_uc010esk.3_Missense_Mutation_p.D657N|NLRP7_uc002qig.4_Intron|NLRP7_uc002qii.4_Missense_Mutation_p.D657N|NLRP7_uc010esl.3_Missense_Mutation_p.D685N	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	657							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAGCGAAGATCCTGCCGAGCC	0.502000														81			35		0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52844213	52844213	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52844213G>A	uc001sak.3	-	1	780	c.732C>T	c.(730-732)gaC>gaT	p.D244D		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	244	Coil 1B.|Rod.				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)		CCTCCACCAGGTCCTGCATGT	0.542000														173			15		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10080036	10080036	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10080036G>A	uc002mmq.1	-	56	4227	c.4141C>T	c.(4141-4143)Cct>Tct	p.P1381S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1381	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)			AGGGGGCCAGGAGGGCCCATC	0.597000														47			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593660	179593660	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179593660C>T	uc021vsy.1	-	61	15598	c.15373G>A	c.(15373-15375)Gag>Aag	p.E5125K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1786K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6052	Ig-like 31.						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)			ACTCCTGACTCATTCTTGGCT	0.388000														21			13		0	0	1	0	0
CASP4	837	broad.mit.edu	37	11	104817824	104817824	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:104817824C>T	uc001pid.1	-	6	1094	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	CASP4_uc001pib.1_Missense_Mutation_p.E285K|CASP4_uc009yxg.1_Missense_Mutation_p.E250K	NM_001225	NP_150649	P49662	CASP4_HUMAN	Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA.	341					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CGAAATACTTCCTCTAGGTGG	0.383000														124			44		0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89256788	89256788	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89256788C>T	uc002fmt.3	+	7	1193	c.1116C>T	c.(1114-1116)ccC>ccT	p.P372P		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	372	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCAACGAGCCCCCCGTGTTCC	0.677000														20			5		0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42825720	42825720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:42825720C>T	uc002ihf.3	+	12	1289	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F	DBF4B_uc002ihe.3_Missense_Mutation_p.S173F|DBF4B_uc010wjc.2_Missense_Mutation_p.S359F	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	359					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TGGTCAGGTTCCCCAGCTTCT	0.592000														101			48		0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616152	248616152	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248616152C>T	uc001iek.1	+	0	54	c.54C>T	c.(52-54)ctC>ctT	p.L18L		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			TCACAGGCCTCATCACCCATC	0.517000														173			38		0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60164109	60164109	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60164109G>A	uc001npj.3	+	0	623	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	MS4A14_uc001npi.3_Intron|MS4A14_uc001npn.3_5'UTR|MS4A14_uc001npk.3_Missense_Mutation_p.E20K|MS4A14_uc001npl.3_5'UTR|MS4A14_uc001npm.3_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	20						integral to membrane	receptor activity	p.E20Q(2)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AAAACCAAACGAAACTGTATT	0.458000														32			12		0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109935691	109935691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:109935691C>T	uc001top.3	+	9	1385	c.782C>T	c.(781-783)cCt>cTt	p.P261L	UBE3B_uc001toq.3_Missense_Mutation_p.P261L|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Missense_Mutation_p.P261L	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	261					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						ATGTCTGTGCCTGCTCTGGTG	0.478000														89			29		0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49867482	49867482	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49867482G>A	uc003cxs.1	-	11	1163	c.1057C>T	c.(1057-1059)Ccc>Tcc	p.P353S	TRAIP_uc010hla.1_Missense_Mutation_p.P254S	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	353	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATCTTCTTGGGGACATCCTGA	0.537000														111			35		0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105774679	105774679	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:105774679G>A	uc001pix.2	+	7	1471	c.1025G>A	c.(1024-1026)gGa>gAa	p.G342E	GRIA4_uc001piu.1_Missense_Mutation_p.G342E|GRIA4_uc001piw.2_Missense_Mutation_p.G342E|GRIA4_uc009yxk.1_Missense_Mutation_p.G342E	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	342					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TGGGGCCAGGGAATTGACATG	0.408000														77			34		0	0	1	0	0
CTSS	1520	broad.mit.edu	37	1	150722495	150722495	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:150722495G>A	uc001evn.3	-	5	1041	c.780C>T	c.(778-780)ttC>ttT	p.F260F	CTSS_uc010pcj.2_Silent_p.F210F	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	260					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTGTAGAGGAAGAAAGAAG	0.393000														48			15		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161214772	161214772	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:161214772C>T	uc011bpb.2	+	0	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	59						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AAACCCTCTTCACAGAAATGG	0.468000														72			30		0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133306681	133306681	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:133306681G>A	uc001ukx.2	-	10	2134	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	ANKLE2_uc009zyw.1_Silent_p.A44A	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	689						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTCCCGGCTCGGCGGCTTCTA	0.622000														97			12		0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43821046	43821046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:43821046C>T	uc011apz.2	+	1	495	c.154C>T	c.(154-156)Ctc>Ttc	p.L52F	MPPED1_uc011apv.2_Missense_Mutation_p.L19F|MPPED1_uc011apw.2_Intron|MPPED1_uc011apx.2_Intron|MPPED1_uc011apy.2_Missense_Mutation_p.L19F	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	19							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CCTGGCCCTCCTCCCCTGCGG	0.711000														27			5		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383132	22383132	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22383132C>T	uc001yuc.1	+	6	1641	c.660C>T	c.(658-660)gtC>gtT	p.V220V	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.V220V	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTATGCAGTCATCCTCTGCC	0.502000														81			27		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89979796	89979796	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89979796G>A	uc003kju.3	+	27	6154	c.6058G>A	c.(6058-6060)Gat>Aat	p.D2020N	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2020					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AACACTAGATGATATGGAAAA	0.393000														43			15		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142643391	142643391	+	Missense_Mutation	SNP	C	T	T	rs61729041		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142643391C>T	uc003wcb.3	-	10	1427	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	406			R -> Q (in KEL26 antigen).		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CTTCATCCATCGTGGGCGGGC	0.562000														23			12		0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824044	54824044	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:54824044G>A	uc002xxb.2	+	0	257	c.145G>A	c.(145-147)Ggc>Agc	p.G49S		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	86					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.G86R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTGTCTCTGGGCATCGTCAG	0.567000														137			23		0	0	1	0	0
NECAP1	25977	broad.mit.edu	37	12	8234961	8234962	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8234961_8234962CC>TT	uc001qtx.2	+	0	155_156	c.77_78CC>TT	c.(76-78)gcc>gTT	p.A26V	BC039122_uc001qtw.1_5'Flank|NECAP1_uc001qty.2_5'UTR	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	Homo sapiens NECAP endocytosis associated 1 (NECAP1), transcript variant 1, mRNA.	26					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		CCGCCCCGGGCCTCCAACCGCG	0.634000														23			5		0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151774528	151774528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151774528C>T	uc001ezf.1	-	1	843	c.653G>A	c.(652-654)aGg>aAg	p.R218K	LINGO4_uc021oyu.1_Missense_Mutation_p.R218K	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	218						integral to membrane		p.G217E(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCTGGCAGCCTCCCAATATC	0.657000														80			26		0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123929839	123929839	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:123929839G>A	uc004bkx.1	+	34	5759	c.5728G>A	c.(5728-5730)Gaa>Aaa	p.E1910K	CNTRL_uc004blb.1_Missense_Mutation_p.E579K|CNTRL_uc010mvp.1_5'UTR	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	1910					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGACATCAGTGAATGGGCAAA	0.433000														39			18		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134627674	134627674	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:134627674C>T	uc021qbc.1	-	53	7471	c.7370G>A	c.(7369-7371)gGa>gAa	p.G2457E		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	618										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GTGCTTGCTTCCCAGATGTCC	0.587000														39			12		0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	120008530	120008530	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:120008530G>A	uc001pwz.3	-	0	334	c.210C>T	c.(208-210)ttC>ttT	p.F70F	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	70					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CATTGCCCGCGAACAGGGCGC	0.622000														201			36		0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33454981	33454981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:33454981G>A	uc003xjp.3	-	1	386	c.53C>T	c.(52-54)tCc>tTc	p.S18F	DUSP26_uc003xjq.3_Missense_Mutation_p.S18F	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA.	18						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GCTACTCCGGGAGAAGCGGGC	0.552000														38			10		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507679	155507679	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155507679C>T	uc003iod.1	-	4	960	c.902G>A	c.(901-903)gGa>gAa	p.G301E	FGA_uc003ioe.1_Missense_Mutation_p.G301E|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	301					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACTTCCAGGTCCAGAGCTCCC	0.577000														145			53		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89388907	89388907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89388907C>T	uc010upo.1	+	6	1597	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	ACAN_uc002bmx.3_Missense_Mutation_p.S408F|ACAN_uc010upp.1_Missense_Mutation_p.S408F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	408					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)			TTCGAGGTCTCCCCCAGTCCC	0.602000														60			16		0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85970858	85970858	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:85970858C>T	uc001kcv.3	+	12	1527	c.1422C>T	c.(1420-1422)tcC>tcT	p.S474S	CDHR1_uc001kcw.3_Silent_p.S474S|CDHR1_uc009xst.3_Intron|CDHR1_uc001kcx.3_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	474	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AGTTCGACTCCCTCTACTACG	0.582000														90			40		0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	27010620	27010620	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:27010620T>A	uc003gsg.4	+	9	2013	c.1485T>A	c.(1483-1485)ttT>ttA	p.F495L	STIM2_uc003gsh.4_Missense_Mutation_p.F503L|STIM2_uc010iex.3_Missense_Mutation_p.F495L|STIM2_uc010iey.3_Missense_Mutation_p.F206L	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	Homo sapiens stromal interaction molecule 2 (STIM2), transcript variant 2, mRNA.	495					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	p.D494Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TGTCACAATTTCCCGGTAAGT	0.418000														83			34		0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350254	51350254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51350254C>T	uc001zyy.3	-	2	803	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	235										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TGCACCAGTTCATGCACCAGG	0.552000														40			19		0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3019165	3019165	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:3019165G>A	uc022brz.1	+	7	1141	c.1005G>A	c.(1003-1005)agG>agA	p.R335R	ARSF_uc004cre.2_Silent_p.R335R|ARSF_uc004crf.2_Silent_p.R335R	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	335						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGGCCTAAGGAACAACACCC	0.408000														19			26		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	30730	30730	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000209.1:30730G>A	uc002qts.2	+	5	694	c.665_splice	c.e5-1	p.G222_splice	KIR2DL2_uc002qtt.2_Splice_Site_p.G222_splice	NM_014219	NP_055034	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 (KIR2DL2), mRNA.	222					regulation of immune response	integral to membrane|plasma membrane	receptor activity										TCATGTTCTAGGAAACCCTTC	0.463000														67			91		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117681165	117681165	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117681165G>A	uc001twn.2	-	19	3712	c.3001C>T	c.(3001-3003)Cgc>Tgc	p.R1001C	NOS1_uc021ren.1_Missense_Mutation_p.R631C|NOS1_uc021reo.1_Missense_Mutation_p.R631C|NOS1_uc001twm.2_Missense_Mutation_p.R967C	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	967	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R1001Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTCCAGCTGCGATCATTGCTG	0.512000														72			24		0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149428833	149428833	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149428833C>T	uc003wfz.3	+	16	2614	c.2215C>T	c.(2215-2217)Ctg>Ttg	p.L739L	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Silent_p.L347L	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	740	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATCCAGAGGCCTGGAGCTTGG	0.587000														13			4		0	0	1	0	0
TM4SF20	79853	broad.mit.edu	37	2	228243815	228243815	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228243815C>T	uc002vpb.2	-	0	208	c.170G>A	c.(169-171)gGa>gAa	p.G57E		NM_024795	NP_079071	Q53R12	T4S20_HUMAN	Homo sapiens transmembrane 4 L six family member 20 (TM4SF20), mRNA.	57						integral to membrane|plasma membrane		p.G57A(2)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CAGACCTGCTCCTATAATTCC	0.418000														82			26		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28284008	28284008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:28284008C>T	uc009xky.3	-	1	162	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	ARMC4_uc001itz.3_Missense_Mutation_p.E22K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	22							binding	p.E22K(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGGGTGATTTCGAGGATTCCA	0.453000														53			19		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55269448	55269448	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55269448C>T	uc003tqk.3	+	25	3381	c.3135C>T	c.(3133-3135)tcC>tcT	p.S1045S	EGFR_uc022adm.1_Silent_p.S1045S|EGFR_uc010kzg.2_Silent_p.S1000S|EGFR_uc022adn.1_Silent_p.S1000S|EGFR_uc011kco.2_Silent_p.S992S	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	1045	Ser-rich.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCAACAATTCCACCGTGGCTT	0.433000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				117			45		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961754	34961754	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:34961754C>T	uc004ddi.2	+	0	842	c.806C>T	c.(805-807)tCc>tTc	p.S269F		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	269	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ACTCTGGTGTCCAGTGTCCAC	0.627000														38			47		0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096780	107096780	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:107096780G>A	uc003dwi.1	+	0	593	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	116										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GAATGTTAATGAAGACAAACA	0.378000														43			19		0	0	1	0	0
KCTD17	79734	broad.mit.edu	37	22	37457582	37457582	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37457582C>T	uc010gxb.3	+	7	810	c.788C>T	c.(787-789)tCc>tTc	p.S263F	KCTD17_uc011amv.2_Missense_Mutation_p.S246F	NM_024681	NP_078957	Q8N5Z5	KCD17_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 17 (KCTD17), mRNA.	270	Pro-rich.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	p.P262L(1)		NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						CTTGCAGGTTCCCGTCCGCAC	0.677000														21			6		0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99925834	99925834	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:99925834C>T	uc004egb.3	+	10	1728	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	416					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GCTCCTACTTCAACATGGTGT	0.522000											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			49		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124258721	124258721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124258721G>A	uc001uft.4	+	4	373	c.348G>A	c.(346-348)atG>atA	p.M116I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	116	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTACCGACATGAAGGAAGCTA	0.403000														84			20		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113212415	113212415	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113212415C>T	uc010mtz.3	-	23	4364	c.4027G>A	c.(4027-4029)Gga>Aga	p.G1343R	SVEP1_uc010mua.1_Missense_Mutation_p.G1343R	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1343	EGF-like 4; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.C1342W(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACGTTCTTTCCACATCGGGTA	0.458000														283			29		0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162729659	162729659	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:162729659C>T	uc001gcf.3	+	8	1210	c.745C>T	c.(745-747)Cac>Tac	p.H249Y	DDR2_uc001gcg.3_Missense_Mutation_p.H249Y	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	249					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CCATGAATACCACGTGTGGCC	0.532000														77			17		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106918708	106918708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106918708G>A	uc001kyi.1	+	10	1915	c.1688G>A	c.(1687-1689)aGa>aAa	p.R563K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	563						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCCTCAGGAAGAATCTCTAGC	0.418000														65			36		0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175742	159175742	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159175742G>A	uc001ftp.4	+	0	694	c.519G>A	c.(517-519)gtG>gtA	p.V173V	DARC_uc001fto.3_Silent_p.V171V	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	171					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGCTCACTGTGGGAATTTGGG	0.632000														24			5		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144994716	144994716	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:144994716G>A	uc021ouh.1	-	0	318	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Missense_Mutation_p.R6C|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.R6C|PDE4DIP_uc001elx.4_Intron|PDE4DIP_uc001emd.2_Missense_Mutation_p.R6C|PDE4DIP_uc001emc.2_Missense_Mutation_p.R6C|PDE4DIP_uc001emg.2_Missense_Mutation_p.R6C|PDE4DIP_uc021oui.1_Intron|PDE4DIP_uc021ouj.1_Intron|PDE4DIP_uc001emh.3_Intron	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	6					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)		GACAGAGTGCGATATCCATTA	0.567000			T	PDGFRB	MPD									125			11		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34079764	34079764	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:34079764C>T	uc002hjv.2	-	0	134	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	36	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCAGGTCTTCCTTCATGGCC	0.632000														45			31		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166924631	166924631	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:166924631G>A	uc003irh.2	+	5	1368	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	TLL1_uc021xud.1_Missense_Mutation_p.E241K|TLL1_uc011cjn.2_Missense_Mutation_p.E241K|TLL1_uc011cjo.2_Missense_Mutation_p.E65K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	241	Metalloprotease (By similarity).				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)		TGTTGTTCATGAATTGGGTCA	0.443000														96			36		0	0	1	0	0
ZNF20	7568	broad.mit.edu	37	19	12243696	12243696	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12243696G>A	uc002mtg.2	-	7	1887	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	ZNF20_uc002mte.2_Silent_p.F400F|ZNF20_uc002mtf.2_Silent_p.F435F|ZNF20_uc021upm.1_Silent_p.F432F	NM_021143	NP_066966	P17024	ZNF20_HUMAN	Homo sapiens zinc finger protein 20 (ZNF20), transcript variant 1, mRNA.	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						GCAAGGAAGAGAAATACCTGA	0.408000														68			21		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60908263	60908263	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:60908263G>A	uc002ycq.3	-	25	3232	c.3165C>T	c.(3163-3165)ttC>ttT	p.F1055F	LAMA5_uc021wfw.1_Silent_p.F1055F|MIR4758_uc021wfx.1_5'Flank	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1055	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGCCGAGGGGAAGCCATCCA	0.711000														31			12		0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922587	43922587	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:43922587G>A	uc010wka.2	+	0	332	c.315G>A	c.(313-315)acG>acA	p.T105T	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	105						integral to membrane	aspartic-type endopeptidase activity										GCTTCCACACGAAAGGCTGGC	0.667000														30			8		0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15893541	15893541	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:15893541C>T	uc002yju.1	-	2	140	c.58_splice	c.e2-1	p.R20_splice	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Splice_Site_p.R88_splice	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	20					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ACTGCTGCTTCGCTATAAAAT	0.303000														21			11		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46832585	46832585	+	Missense_Mutation	SNP	G	A	A	rs145401391		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46832585G>A	uc002peh.3	+	11	1593	c.1562G>A	c.(1561-1563)cGg>cAg	p.R521Q	HIF3A_uc002peg.4_Missense_Mutation_p.R521Q|HIF3A_uc021uwf.1_Missense_Mutation_p.R465Q|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Missense_Mutation_p.R452Q|HIF3A_uc002pel.3_Missense_Mutation_p.R519Q|HIF3A_uc010xxz.2_Missense_Mutation_p.R470Q	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	521	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCTGTCCCCCGGCCCCGTGCT	0.672000														62			25		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11236895	11236895	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:11236895G>A	uc003jfa.1	-	9	1814	c.1669C>T	c.(1669-1671)Cag>Tag	p.Q557*	CTNND2_uc010itt.2_Nonsense_Mutation_p.Q466*|CTNND2_uc011cmy.1_Nonsense_Mutation_p.Q220*|CTNND2_uc011cmz.1_Nonsense_Mutation_p.Q124*|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Nonsense_Mutation_p.Q124*	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	557					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.Q557K(2)|p.Q557E(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCAACATCTGAATCACTTCC	0.483000														89			39		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73477983	73477983	+	Missense_Mutation	SNP	G	A	A	rs34852121		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:73477983G>A	uc003tzw.3	+	28	2060	c.1969G>A	c.(1969-1971)Gga>Aga	p.G657R	ELN_uc003tzn.3_Missense_Mutation_p.G651R|ELN_uc003tzy.3_Missense_Mutation_p.G627R|ELN_uc003tzz.3_Missense_Mutation_p.G570R|ELN_uc003tzo.3_Missense_Mutation_p.G603R|ELN_uc003tzp.3_Missense_Mutation_p.G562R|ELN_uc003tzq.3_Missense_Mutation_p.G515R|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.G632R|ELN_uc003tzt.3_Missense_Mutation_p.G656R|ELN_uc003tzu.3_Missense_Mutation_p.G637R|ELN_uc003tzv.3_Missense_Mutation_p.G622R|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G641R|ELN_uc011kff.2_Missense_Mutation_p.G651R	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	713	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CGGAGGACTCGGAGTCGGAGG	0.587000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							109			18		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682041	69682041	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69682041G>A	uc003hee.3	+	0	329	c.304G>A	c.(304-306)Gat>Aat	p.D102N	UGT2B10_uc011cam.2_Missense_Mutation_p.D102N	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	102					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AATTCAAAAAGATACATTTTG	0.289000														97			28		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101523896	101523896	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:101523896C>T	uc002bwr.3	+	3	744	c.425C>T	c.(424-426)tCc>tTc	p.S142F	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Missense_Mutation_p.S142F	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	142					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTGCTTGAGTCCTTACCAGGT	0.527000														78			25		0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71232942	71232942	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:71232942C>T	uc002jjm.4	+	2	1515	c.1321C>T	c.(1321-1323)Cag>Tag	p.Q441*	C17orf80_uc010wqu.1_Nonsense_Mutation_p.Q441*|C17orf80_uc010dfj.3_Nonsense_Mutation_p.Q441*|C17orf80_uc002jjk.1_Nonsense_Mutation_p.Q441*|C17orf80_uc002jjl.4_Nonsense_Mutation_p.Q441*	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	Homo sapiens chromosome 17 open reading frame 80 (C17orf80), transcript variant 1, mRNA.	441						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			TCACACTCCTCAGAGCCCCTT	0.552000														67			31		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28441679	28441679	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:28441679A>T	uc001zbj.3	-	50	8154	c.8048T>A	c.(8047-8049)tTt>tAt	p.F2683Y	HERC2_uc001zbk.1_Missense_Mutation_p.F218Y	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2683					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGCTGGGGAAAGTCGACAAT	0.413000														83			13		0	0	1	0	0
CNTFR	1271	broad.mit.edu	37	9	34552812	34552812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:34552812G>A	uc003zup.2	-	7	1103	c.809C>T	c.(808-810)gCc>gTc	p.A270V	CNTFR_uc003zuq.2_Missense_Mutation_p.A270V|CNTFR_uc022bgg.1_Missense_Mutation_p.A270V	NM_147164	NP_671693	P26992	CNTFR_HUMAN	Homo sapiens ciliary neurotrophic factor receptor (CNTFR), transcript variant 1, mRNA.	270	Fibronectin type-III 2.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		CCCGGCGTAGGCATCTGTGAT	0.622000														126			22		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68631940	68631940	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:68631940C>T	uc010bib.3	-	10	1261	c.1174G>A	c.(1174-1176)Gga>Aga	p.G392R	ITGA11_uc002ari.3_Missense_Mutation_p.G392R	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	392					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AGCACAGCTCCATTCCAGTCA	0.587000														55			43		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158644199	158644199	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158644199C>T	uc001fst.1	-	9	1469	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	424					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAAATCGGTCATCGTAAGAG	0.448000														170			72		0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25343562	25343562	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:25343562G>A	uc001rgk.3	-	1	89	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	CASC1_uc001rgj.3_5'UTR|CASC1_uc001rgm.4_Missense_Mutation_p.P61S|CASC1_uc001rgl.3_Intron|CASC1_uc010sje.2_Intron|CASC1_uc010sjf.2_Intron|CASC1_uc010sjg.1_Intron|CASC1_uc010sjh.1_Non-coding_Transcript	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	0										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTTGCTTTGGGACCCTAAAAG	0.244000														48			19		0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797208	127797208	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:127797208C>T	uc003qbd.3	-	5	2828	c.1963G>A	c.(1963-1965)Gag>Aag	p.E655K	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	655						integral to membrane											AGCTCCGTCTCGTCTTCCACC	0.632000														60			9		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136561642	136561642	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136561642C>T	uc002tuu.1	-	10	4532	c.4521G>A	c.(4519-4521)gaG>gaA	p.E1507E		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1507	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGTCTCATTCTCCCAGCCTC	0.517000														72			25		0	0	1	0	0
TRA	0	broad.mit.edu	37	14	22180969	22180969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22180969G>A	uc021roz.1	+	1	249	c.241G>A	c.(241-243)Gga>Aga	p.G81R						Homo sapiens mRNA for T cell receptor alpha variable 2, partial cds, clone: SEB 280.																		TTCTCAGCAGGGACGATACAA	0.502000														192			73		0	0	1	0	0
MARS2	92935	broad.mit.edu	37	2	198570227	198570227	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:198570227C>T	uc002uuq.3	+	0	200	c.98C>T	c.(97-99)tCc>tTc	p.S33F	BC021693_uc002uup.3_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA.	33					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	AGTTCGGGCTCCCTCAGTGCC	0.622000														60			17		0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165383628	165383628	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:165383628G>A	uc002ucl.3	-	3	1040	c.499C>T	c.(499-501)Cac>Tac	p.H167Y	GRB14_uc010zcv.2_Missense_Mutation_p.H80Y	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	167	Ras-associating.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						ACCAGTTCGTGGTCTTCTATT	0.264000														79			24		0	0	1	0	0
FAM190A	401145	broad.mit.edu	37	4	91389464	91389464	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:91389464G>A	uc003hsv.4	+	4	2023	c.1683G>A	c.(1681-1683)atG>atA	p.M561I	FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.M561I	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	561										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TGATAGAAATGAAGAAAAGAG	0.383000														33			12		0	0	1	0	0
HSFY1P1	27437	broad.mit.edu	37	22	17308721	17308721	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17308721C>T	uc010gqr.1	+	0		c.358C>T								Homo sapiens heat shock transcription factor, Y-linked 1 pseudogene 1 (HSFY1P1), non-coding RNA.																		CAATTCAAGTCTAATTCATAG	0.318000														24			7		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32341039	32341039	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:32341039C>T	uc002wzy.3	+	4	571	c.551C>T	c.(550-552)cCt>cTt	p.P184L	ZNF341_uc002wzx.3_Missense_Mutation_p.P184L|ZNF341_uc010geq.3_Missense_Mutation_p.P94L|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	184	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						cctcctccacctcctccacca	0.612000														57			31		0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61226934	61226934	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61226934G>A	uc010xeo.2	+	2	427	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	SERPINB12_uc010xen.2_Missense_Mutation_p.E123K	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	123					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TGGAGAGCAGGAATTCCCAAT	0.463000														123			11		0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201778347	201778347	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201778347C>T	uc021phi.1	+	20	4610	c.4263C>T	c.(4261-4263)ctC>ctT	p.L1421L	NAV1_uc001gwu.3_Silent_p.L1418L|NAV1_uc001gwx.3_Silent_p.L1027L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1421					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AAGTGACCCTCCGGGTGGTGG	0.512000														158			49		0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98189325	98189325	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:98189325G>A	uc003dsm.3	+	0	905	c.905G>A	c.(904-906)aGa>aAa	p.R302K		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTGTCTTAAGAAAAATTCTG	0.294000														46			14		0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394122	17394122	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17394122C>T	uc010xpn.1	+	4	825	c.711C>T	c.(709-711)ggC>ggT	p.G237G	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Silent_p.G183G|ANKLE1_uc010eao.1_Silent_p.G205G|ANKLE1_uc002nfy.2_Silent_p.G172G|ANKLE1_uc002nfz.2_5'UTR			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	183						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GGGACATTGGCTTGGAGGCTG	0.602000														126			29		0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95540699	95540699	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:95540699G>A	uc002stw.1	+	3	985	c.892G>A	c.(892-894)Gag>Aag	p.E298K	LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	298					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCGCTGTGAGGAGCTGGAGGA	0.682000														19			7		0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106207896	106207896	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106207896C>T	uc001yse.3	-	4	951	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		AAGACGTTCCCCTGCTGCCAC	0.597000														118			36		0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780368	37780368	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:37780368G>A	uc003tfm.1	+	0	373	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	125						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGACAAAGTGGAATTCTACAG	0.498000														144			35		0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101971537	101971537	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:101971537C>T	uc002bxa.2	-	4	956	c.642G>A	c.(640-642)ctG>ctA	p.L214L	PCSK6_uc010bpd.3_Silent_p.L85L|PCSK6_uc002bwy.3_Silent_p.L214L|PCSK6_uc010bpe.3_Silent_p.L211L|PCSK6_uc002bxb.2_Silent_p.L214L|PCSK6_uc002bxc.1_Silent_p.L214L|PCSK6_uc002bxd.1_Silent_p.L214L|PCSK6_uc002bxe.3_Silent_p.L214L|PCSK6_uc002bxg.1_Silent_p.L214L	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	215	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AATTTGGGGCCAGGTCAGGGT	0.448000														50			14		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037470	75037470	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75037470C>T	uc001dgg.3	-	13	4143	c.3924G>A	c.(3922-3924)gcG>gcA	p.A1308A		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1308	Glu-rich.							p.A1308V(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						TGTCCTGCATCGCTTCTGTCT	0.542000														144			68		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21235097	21235097	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21235097G>A	uc002red.3	-	25	4771	c.4643C>T	c.(4642-4644)tCt>tTt	p.S1548F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1548					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGCAGATCAGAGGTGGAGGT	0.433000														89			25		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9934828	9934828	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:9934828T>A	uc010uym.2	-	6	1772	c.1462A>T	c.(1462-1464)Aaa>Taa	p.K488*	GRIN2A_uc002czo.4_Nonsense_Mutation_p.K488*|GRIN2A_uc010uyn.2_Nonsense_Mutation_p.K331*|GRIN2A_uc002czr.4_Nonsense_Mutation_p.K488*	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	488					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGTTAACTTTCTTGCCATGC	0.438000														116			57		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518118	8518118	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:8518118G>A	uc003zkk.3	-	20	2016	c.1273C>T	c.(1273-1275)Cag>Tag	p.Q425*	PTPRD_uc003zkp.3_Nonsense_Mutation_p.Q425*|PTPRD_uc003zkq.3_Nonsense_Mutation_p.Q425*|PTPRD_uc003zkr.3_Nonsense_Mutation_p.Q419*|PTPRD_uc003zks.3_Nonsense_Mutation_p.Q415*|PTPRD_uc022bdj.1_Nonsense_Mutation_p.Q422*	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	425	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTCGTGCCTGGACATCCCTC	0.502000										TSP Lung(15;0.13)				93			55		0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52754805	52754805	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52754805G>A	uc001sag.3	-	8	1476	c.1356C>T	c.(1354-1356)gtC>gtT	p.V452V		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	452	Tail.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCCACAGGAGACTCCACCAC	0.652000														10			4		0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85540643	85540643	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:85540643C>T	uc011ccv.2	+	4	1035	c.537C>T	c.(535-537)ctC>ctT	p.L179L		NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	179					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TTCAGTTCCTCATTCGCTACC	0.313000														86			18		0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55522958	55522958	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:55522958C>T	uc002ryv.2	-	30	6165	c.5323G>A	c.(5323-5325)Ggc>Agc	p.G1775S	CCDC88A_uc010ypa.1_Intron|CCDC88A_uc010yoz.1_Missense_Mutation_p.G1748S|CCDC88A_uc002ryt.2_Missense_Mutation_p.G66S|CCDC88A_uc010fbw.2_Missense_Mutation_p.G277S|CCDC88A_uc002ryu.2_Missense_Mutation_p.G1030S|CCDC88A_uc002rys.3_Missense_Mutation_p.G733S|CCDC88A_uc002ryw.3_Missense_Mutation_p.G1059S|CCDC88A_uc010fby.1_Missense_Mutation_p.G627S	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	1776					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CCTTGAGTGCCTGGTGTAGGT	0.403000														65			23		0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72946126	72946126	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:72946126C>T	uc021qna.1	+	0	922	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L	P2RY2_uc001otk.3_Silent_p.L308L|P2RY2_uc001otj.3_Silent_p.L308L|P2RY2_uc001otl.3_Silent_p.L308L	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	308					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCTCTACTTCCTGGCTGGGCA	0.662000														29			9		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27458232	27458232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27458232C>T	uc002rji.3	+	23	4068	c.3906C>T	c.(3904-3906)gcC>gcT	p.A1302A	CAD_uc010eyw.3_Silent_p.A1239A	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1302	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACCTCAAGGCCATGCTAAGCA	0.582000														88			44		0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78608307	78608307	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:78608307C>T	uc003kfx.4	+	7	2599	c.2050C>T	c.(2050-2052)Cga>Tga	p.R684*	JMY_uc003kfw.1_Nonsense_Mutation_p.R330*	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.	684					'de novo' actin filament nucleation|Arp2/3 complex-mediated actin nucleation|DNA repair|actin polymerization-dependent cell motility|cell cycle arrest|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GGATAGACTTCGAACATTTAA	0.303000														94			24		0	0	1	0	0
CEP44	80817	broad.mit.edu	37	4	175224908	175224908	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:175224908C>T	uc010iro.2	+	4	597	c.292C>T	c.(292-294)Caa>Taa	p.Q98*	CEP44_uc003its.2_Non-coding_Transcript|CEP44_uc003itr.3_Nonsense_Mutation_p.Q98*	NM_001145314	NP_001138786	Q9C0F1	CEP44_HUMAN	Homo sapiens centrosomal protein 44kDa (CEP44), transcript variant 2, mRNA.	98						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						GCAGTTTATCCAATGTGGGTT	0.318000														42			15		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167814979	167814979	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167814979C>T	uc001ger.3	-	20	3127	c.2829G>A	c.(2827-2829)aaG>aaA	p.K943K	ADCY10_uc010plj.2_Silent_p.K790K|ADCY10_uc009wvk.3_Silent_p.K851K|ADCY10_uc009wvl.3_Silent_p.K942K	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	943					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTCTCTGGTCCTTGAGCCACA	0.498000														98			8		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31434773	31434773	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31434773C>T	uc010cap.1	+	24	3012	c.2963C>T	c.(2962-2964)cCa>cTa	p.P988L	ITGAD_uc002ebv.1_Missense_Mutation_p.P987L	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	987					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGAGGCCCCATCTCAGGTA	0.542000														62			20		0	0	1	0	0
TSPY1	7258	broad.mit.edu	37	Y	9305956	9305956	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrY:9305956C>T	uc004frw.4	+	2	658	c.612C>T	c.(610-612)ttC>ttT	p.F204F	TSPY3_uc004fse.3_Intron|TSPY1_uc004frx.4_Silent_p.F204F|TSPY1_uc010nwp.1_Intron	NM_003308	NP_003299	Q01534	TSPY1_HUMAN	Homo sapiens testis specific protein, Y-linked 1 (TSPY1), transcript variant 1, mRNA.	204					cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus	identical protein binding			lung(4)	4						TCATGTTGTTCTTTCGGAGTA	0.478000														272			47		0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101095769	101095769	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:101095769G>A	uc011mrk.1	-	8	939	c.579C>T	c.(577-579)tcC>tcT	p.S193S	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	193					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CCTTATTTTTGGAGAGATTCA	0.498000														24			4		0	0	1	0	0
FOXN2	3344	broad.mit.edu	37	2	48602074	48602074	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:48602074C>T	uc002rwh.1	+	6	1103	c.788C>T	c.(787-789)cCt>cTt	p.P263L		NM_002158	NP_002149	P32314	FOXN2_HUMAN	Homo sapiens forkhead box N2 (FOXN2), mRNA.	263					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			AAGCCTCTTCCTCTTAAAACA	0.378000														63			13		0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54647985	54647986	+	Missense_Mutation	DNP	AC	TT	TT	rs138688054	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54647985_54647986AC>TT	uc002qdj.2	+	6	724_725	c.400_401AC>TT	c.(400-402)acg>TTg	p.T134L	CNOT3_uc010yel.2_Missense_Mutation_p.T134L|CNOT3_uc002qdi.3_Missense_Mutation_p.T47L|CNOT3_uc002qdk.2_Missense_Mutation_p.T134L|CNOT3_uc010ere.2_Non-coding_Transcript	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	134					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TACCATCGACACGCTCAACATG	0.559000														28			17		0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35947969	35947969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:35947969G>A	uc003anx.3	+	2	896	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	RASD2_uc003any.3_Missense_Mutation_p.V231I	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	231	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CTATGGCATGGTCTCGCCCTT	0.647000														53			18		0	0	1	0	0
HAUS1	115106	broad.mit.edu	37	18	43698189	43698189	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:43698189C>T	uc002lbu.3	+	2	328	c.248C>T	c.(247-249)tCc>tTc	p.S83F	HAUS1_uc002lbv.3_Missense_Mutation_p.S7F	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 1 (HAUS1), transcript variant 1, mRNA.	83					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GTGAATTTTTCCCCCGCCAAT	0.418000														107			35		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227919409	227919409	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:227919409C>T	uc021vxr.1	-	29	2862	c.2761G>A	c.(2761-2763)Gga>Aga	p.G921R	COL4A4_uc021vxs.1_Missense_Mutation_p.G921R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	921	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCAGGCTTTCCTCTTTCTCCG	0.512000														60			20		0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211163161	211163161	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:211163161C>T	uc002vec.3	-	2	416	c.287G>A	c.(286-288)gGa>gAa	p.G96E	MYL1_uc002veb.3_Missense_Mutation_p.G52E	NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	96					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GCTGGGGTTTCCCAGAACTTT	0.483000														129			39		0	0	1	0	0
CHST3	9469	broad.mit.edu	37	10	73768064	73768064	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73768064C>T	uc001jsn.3	+	2	1715	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	ANAPC16_uc021psn.1_Intron	NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	Homo sapiens carbohydrate (chondroitin 6) sulfotransferase 3 (CHST3), mRNA.	425					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						CGGAGCAGTTCGAGAAGTGGC	0.652000														5			5		0	0	1	0	0
PAPL	390928	broad.mit.edu	37	19	39576015	39576015	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39576015C>T	uc002oki.3	+	1	380	c.106C>T	c.(106-108)Cat>Tat	p.H36Y	PAPL_uc010egl.3_Missense_Mutation_p.H36Y	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	36						extracellular region	acid phosphatase activity|metal ion binding										AGAGCAAGTCCATCTGTCTTA	0.582000														116			36		0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61053825	61053825	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:61053825G>A	uc001nra.3	-	4	781	c.502C>T	c.(502-504)Ccg>Tcg	p.P168S	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	168	EGF-like 2; calcium-binding (Potential).					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGCATGCCCGGCCCACACTCG	0.572000														139			75		0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109881406	109881406	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:109881406G>A	uc010sxn.1	+	26	2728	c.2728G>A	c.(2728-2730)Gtg>Atg	p.V910M	MYO1H_uc010sxo.1_Missense_Mutation_p.V101M	NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	101						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AGCTTACGTGGTGGAACTTGC	0.443000														20			10		0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148975505	148975505	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:148975505C>T	uc011kuo.2	+	4	852	c.689C>T	c.(688-690)cCa>cTa	p.P230L	AF035281_uc003wfr.4_Non-coding_Transcript	NM_001195220	NP_001182149	C9J9J2	C9J9J2_HUMAN	Homo sapiens zinc finger family member 783 (ZNF783), mRNA.	230					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CCTCCGTATCCAGAGCACCTC	0.607000														27			12		0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33587345	33587345	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:33587345C>T	uc002nug.1	+	6	1159	c.845C>T	c.(844-846)tCa>tTa	p.S282L		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	282						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TTGGGAATTTCAGGCCAGGTA	0.343000														58			10		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43109933	43109933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43109933C>T	uc011dve.1	+	12	2009	c.1967C>T	c.(1966-1968)tCc>tTc	p.S656F	PTK7_uc003oub.1_Missense_Mutation_p.S648F|PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Missense_Mutation_p.S608F|PTK7_uc003oue.1_Missense_Mutation_p.S518F|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	648	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CAGAATGGCTCCCTGGTGATC	0.627000														69			28		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34064204	34064204	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34064204C>T	uc001zhi.3	+	62	8970	c.8900C>T	c.(8899-8901)aCt>aTt	p.T2967I	RYR3_uc010bar.3_Missense_Mutation_p.T2967I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2967					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGGAGAAGACTTCAGAAAAC	0.458000														23			4		0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31150654	31150654	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31150654C>T	uc002ebd.3	-	14	2432	c.2373G>A	c.(2371-2373)gaG>gaA	p.E791E	PRSS36_uc010vff.2_Silent_p.E566E|PRSS36_uc010vfg.2_Silent_p.E786E|PRSS36_uc010vfh.2_Silent_p.E688E	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	791	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CAGCAAACAGCTCCCGGCTCC	0.632000														56			8		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29886201	29886201	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:29886201G>A	uc003afo.3	+	3	2643	c.2572G>A	c.(2572-2574)Gac>Aac	p.D858N	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	864	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GGAGAAGAAGGACAGCAAGAA	0.527000														23			8		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18725192	18725192	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:18725192G>A	uc003wza.3	-	3	1729	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	542	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCCCCAGAAAGCAATCT	0.458000														67			6		0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82644405	82644405	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:82644405C>T	uc001ozt.3	+	5	2269	c.2025C>T	c.(2023-2025)gcC>gcT	p.A675A	C11orf82_uc010rsr.2_Silent_p.A374A|C11orf82_uc010rss.2_Silent_p.A374A|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	675					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GCTATGATGCCTCTGCTGATC	0.348000														194			58		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995647	19995647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:19995647G>A	uc002ktv.1	-	0	2232	c.2128C>T	c.(2128-2130)Cca>Tca	p.P710S		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	710	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGTGGACCTGGGACATCCCTT	0.522000														95			33		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40368832	40368833	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40368832_40368833CC>TT	uc002omp.4	-	27	12523_12524	c.12515_12516GG>AA	c.(12514-12516)ggg>gAA	p.G4172E		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4172	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGAAATCCGCCCGTCGGCCAC	0.619000														225			38		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539793	94539793	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94539793G>A	uc003unp.3	+	1	650	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	PPP1R9A_uc010lfj.3_Missense_Mutation_p.R123Q|PPP1R9A_uc011kif.2_Missense_Mutation_p.R123Q|PPP1R9A_uc003unq.3_Missense_Mutation_p.R123Q|PPP1R9A_uc011kig.2_Missense_Mutation_p.R123Q	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	123	Actin-binding.					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)			GTTTCTGAACGAATTAGTAGA	0.403000										HNSCC(28;0.073)				109			39		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52547965	52547965	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52547965C>T	uc003dej.3	+	31	3489	c.3415C>T	c.(3415-3417)Cct>Tct	p.P1139S		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1139	FAS1 4.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGACTTGGTGCCTGCCTTCAG	0.642000														121			53		0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125240122	125240122	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125240122G>A	uc011lyu.2	-	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GGAACAGGGCGAAGAACACGG	0.587000														124			63		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11078583	11078583	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:11078583C>T	uc010hdq.3	+	15	2142	c.1731C>T	c.(1729-1731)atC>atT	p.I577I		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	577				I -> T (in Ref. 1; CAA38484).	neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GCGAAGACATCGTTCGCCCAG	0.632000														71			30		0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4615509	4615509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4615509G>A	uc010qyi.2	+	0	241	c.241G>A	c.(241-243)Gtg>Atg	p.V81M		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCTCCTCCGTGGTACCCAA	0.502000														176			30		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10942755	10942755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:10942755C>T	uc002yip.1	-	12	1054	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R211Q|TPTE_uc002yir.1_Missense_Mutation_p.R191Q|TPTE_uc010gkv.1_Missense_Mutation_p.R91Q	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	229	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I228V(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)		CCTTGTGTATCGCCTTTTGTT	0.323000														441			65		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107481	6107481	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:6107481C>T	uc010idb.1	-	2	829	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.A115T|JAKMIP1_uc003giu.4_Missense_Mutation_p.A115T|JAKMIP1_uc011bwc.2_Intron|JAKMIP1_uc003giv.4_Missense_Mutation_p.A115T|JAKMIP1_uc010ide.3_Missense_Mutation_p.A115T	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	115	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCAGCGTGGCCTGCAGCCGC	0.726000														17			3		0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31488639	31488639	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31488639C>T	uc002ecd.2	+	10	1162	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	TGFB1I1_uc021tgx.1_Silent_p.F359F|TGFB1I1_uc002ece.2_Silent_p.F359F	NM_001042454	NP_057011	O43294	TGFI1_HUMAN	Homo sapiens transforming growth factor beta 1 induced transcript 1 (TGFB1I1), transcript variant 1, mRNA.	376	LIM zinc-binding 3.				Wnt receptor signaling pathway|androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	I-SMAD binding|Roundabout binding|androgen receptor binding|transcription coactivator activity|zinc ion binding	p.F376F(1)|p.F359F(1)		lung(8)|upper_aerodigestive_tract(1)	9						AGGAATGCTTCGCGCCCTTCT	0.662000														28			18		0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5011070	5011070	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:5011070C>T	uc001iho.3	+	9	1345	c.504C>T	c.(502-504)ttC>ttT	p.F168F	AKR1C3_uc001ihr.3_Intron|AKR1C3_uc001ihq.3_Silent_p.F168F	NM_001353	NP_001344	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1), mRNA.	168					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TGTCCAACTTCAACCGCAGGC	0.517000														80			42		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76490701	76490701	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76490701G>A	uc010dhp.2	-	39	6369	c.6244C>T	c.(6244-6246)Cgg>Tgg	p.R2082W	AK127460_uc002jvt.1_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCCGTTTCCGAGGCACGTCC	0.592000														139			40		0	0	1	0	0
OBP2B	29989	broad.mit.edu	37	9	136083927	136083927	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:136083927C>T	uc004ccz.3	-	1	177	c.135G>A	c.(133-135)agG>agA	p.R45R	OBP2B_uc010nad.3_Non-coding_Transcript|OBP2B_uc011mcy.2_Intron	NM_014581	NP_055396	Q9NPH6	OBP2B_HUMAN	Homo sapiens odorant binding protein 2B (OBP2B), mRNA.	45					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CCTTCCTGGGCCTCCTGTCCT	0.622000														11			11		0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97918838	97918838	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:97918838C>T	uc001klp.3	+	5	3616	c.2759C>T	c.(2758-2760)cCa>cTa	p.P920L	ZNF518A_uc001klo.1_Missense_Mutation_p.P390L|ZNF518A_uc001klq.3_Missense_Mutation_p.P920L|ZNF518A_uc001klr.3_Missense_Mutation_p.P920L	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	920					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATGCAGAGTCCACTTTTAAAT	0.333000														52			5		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743149	26743149	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:26743149G>A	uc001mra.2	-	0	426	c.113C>T	c.(112-114)tCc>tTc	p.S38F	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.4_Missense_Mutation_p.S38F	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	38					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GAACTCTCGGGAAGTTGCCTT	0.498000														38			80		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110420301	110420301	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110420301G>A	uc003yne.3	+	17	1941	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	613					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			GCTTGGTTATGAAGTAGTTGA	0.328000										HNSCC(38;0.096)				27			16		0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83437738	83437738	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83437738C>T	uc002bjd.2	-	8	1614	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	FSD2_uc010uol.1_Missense_Mutation_p.E438K|FSD2_uc010uom.1_Missense_Mutation_p.E438K	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	483	Fibronectin type-III 2.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						ACAGCCTCTTCACAGCTCCTT	0.493000														25			6		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71200008	71200008	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:71200008G>A	uc001xmm.3	-	10	2078	c.2078C>T	c.(2077-2079)tCa>tTa	p.S693L	MAP3K9_uc010ttk.2_Missense_Mutation_p.S421L|MAP3K9_uc001xmk.3_Missense_Mutation_p.S426L|MAP3K9_uc001xml.3_Missense_Mutation_p.S707L	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	693					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ctggctgggtgaatgctgtag	0.552000														24			10		0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82643420	82643420	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:82643420C>T	uc001ozt.3	+	5	1284	c.1040C>T	c.(1039-1041)cCc>cTc	p.P347L	C11orf82_uc010rsr.2_Missense_Mutation_p.P46L|C11orf82_uc010rss.2_Missense_Mutation_p.P46L|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	347					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATGCGAGAGCCCCTTGAGTCA	0.408000														150			44		0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26918769	26918769	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:26918769G>A	uc002hbq.3	-	3	1476	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	462					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)					TCTGGGTGAGGGACAGCCAGC	0.542000														54			35		0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184210648	184210648	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:184210648C>T	uc010irx.3	+	20	3426	c.3244C>T	c.(3244-3246)Cgc>Tgc	p.R1082C	WWC2_uc003ivk.4_Missense_Mutation_p.R877C|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.R764C|WWC2_uc003ivn.4_Missense_Mutation_p.R597C|WWC2_uc010irz.3_Missense_Mutation_p.R423C|WWC2_uc003ivo.4_Missense_Mutation_p.R210C	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	1082										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CCGGCAGAGCCGCCTCAATGA	0.567000														32			8		0	0	1	0	0
BEND5	79656	broad.mit.edu	37	1	49202013	49202013	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:49202013C>T	uc001crx.4	-	4	1050	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc010omy.1_Intron|AGBL4_uc001crv.1_Intron|BEND5_uc001crw.4_Missense_Mutation_p.D167N	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	Homo sapiens BEN domain containing 5 (BEND5), mRNA.	336	BEN.									large_intestine(5)|lung(2)|skin(1)	8						TTCAGAACATCTGTTCCCCAA	0.468000														133			41		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090556	9090556	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9090556G>A	uc002mkp.3	-	0	1463	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	420	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.N419K(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						GGAGTGATGGGTGTTGGTCTC	0.502000														56			21		0	0	1	0	0
ZNF295	49854	broad.mit.edu	37	21	43411770	43411770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43411770G>A	uc021wjo.1	-	0	2435	c.2435C>T	c.(2434-2436)cCc>cTc	p.P812L	ZNF295_uc002yzz.4_Missense_Mutation_p.P611L|ZNF295_uc002zab.4_Missense_Mutation_p.P812L|ZNF295_uc002yzy.4_Missense_Mutation_p.P812L|ZNF295_uc002zaa.4_Missense_Mutation_p.P812L	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	812					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						GTCCAAAACGGGCAAAGAAAA	0.502000														93			42		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48266576	48266576	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48266576G>A	uc002iqm.3	-	39	3016	c.2890C>T	c.(2890-2892)Cct>Tct	p.P964S		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	964	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.P964P(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTCTGACCAGGCAGGCCGACC	0.617000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							30			5		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200967678	200967679	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:200967678_200967679GG>AA	uc001gvs.2	-	13	2227_2228	c.1910_1911CC>TT	c.(1909-1911)gcc>gTT	p.A637V	KIF21B_uc009wzl.2_Missense_Mutation_p.A637V|KIF21B_uc001gvr.2_Missense_Mutation_p.A637V|KIF21B_uc010ppn.2_Missense_Mutation_p.A637V	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	637					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AAGTCAGGTCGGCCAGGTCCGC	0.589000														63			28		0	0	1	0	0
PRAMEF8	391002	broad.mit.edu	37	1	12979735	12979735	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12979735G>A	uc001aup.3	+	3	1010	c.927G>A	c.(925-927)ttG>ttA	p.L309L		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	309												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGTCGGACTTGAAGCATCTCT	0.567000														138			14		0	0	1	0	0
NOMO3	408050	broad.mit.edu	37	16	16349589	16349589	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:16349589G>A	uc002dep.3	+	9	1111	c.976G>A	c.(976-978)Gtc>Atc	p.V326I	NOMO3_uc010bvp.2_Missense_Mutation_p.V159I|NOMO3_uc002deq.3_Missense_Mutation_p.V326I	NM_001004067	NP_001004067	P69849	NOMO3_HUMAN	Homo sapiens NODAL modulator 3 (NOMO3), mRNA.	326						integral to membrane	carbohydrate binding|carboxypeptidase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CGTGTTCCACGTCATGGGATT	0.557000														55			20		0	0	1	0	0
CATSPER3	347732	broad.mit.edu	37	5	134343727	134343727	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:134343727C>T	uc003lag.3	+	3	659	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	Homo sapiens cation channel, sperm associated 3 (CATSPER3), mRNA.	191					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTACATCTTCGCTATCTTGG	0.557000														86			28		0	0	1	0	0
GOT2	2806	broad.mit.edu	37	16	58757655	58757655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:58757655G>A	uc002eof.1	-	1	355	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	GOT2_uc010vim.1_Missense_Mutation_p.R81C	NM_002080	NP_002071	P00505	AATM_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA.	81					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTCACCTTGCGGACGCTAGGC	0.498000														204			20		0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840283	128840283	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:128840283G>A	uc009zcp.3	-	21	4783	c.4783C>T	c.(4783-4785)Cgc>Tgc	p.R1595C	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.R554C|ARHGAP32_uc001qez.3_Missense_Mutation_p.R1246C	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1595	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGAACAGAGCGAATCATGGAA	0.542000														43			20		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120732746	120732746	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:120732746C>T	uc001pxn.2	+	8	1110	c.823C>T	c.(823-825)Cat>Tat	p.H275Y	GRIK4_uc009zav.1_Missense_Mutation_p.H275Y|GRIK4_uc009zaw.1_Missense_Mutation_p.H275Y|GRIK4_uc009zax.1_Missense_Mutation_p.H275Y	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	275					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CAACCAATCCCATGCTTTCTT	0.522000														211			89		0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016596	27016596	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:27016596G>A	uc001mrd.3	+	0	969	c.523G>A	c.(523-525)Gag>Aag	p.E175K		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	175						Golgi apparatus|extracellular region		p.K174N(1)		breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CCTGCTGAAGGAGACACTGGA	0.572000														63			27		0	0	1	0	0
CALU	813	broad.mit.edu	37	7	128388731	128388731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128388731C>T	uc022ald.1	+	2	1061	c.118C>T	c.(118-120)Cct>Tct	p.P40S	CALU_uc022alg.1_5'UTR|CALU_uc022alh.1_5'UTR|CALU_uc022ali.1_5'UTR|CALU_uc003vns.3_Missense_Mutation_p.P32S|CALU_uc003vnr.3_Missense_Mutation_p.P40S|CALU_uc003vnq.3_Missense_Mutation_p.P32S|CALU_uc022ale.1_Missense_Mutation_p.P32S|CALU_uc022alf.1_Intron	NM_001199672	NP_001186601	O43852	CALU_HUMAN	Homo sapiens calumenin (CALU), transcript variant 4, mRNA.	32					platelet activation|platelet degranulation	Golgi apparatus|extracellular region|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						ACATCATGAGCCTCAGCTCAG	0.468000														82			37		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141779	29141779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29141779C>T	uc011dlm.2	+	0	469	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	123					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						GTCATATGATCGTTATGTAGC	0.448000														255			94		0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159831822	159831822	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:159831822G>A	uc003lyg.3	-	13	1613	c.1458C>T	c.(1456-1458)ctC>ctT	p.L486L		NM_006425	NP_006416	O95391	SLU7_HUMAN	Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA.	486					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTACCTCCATGAGGGTTTGAG	0.363000														45			4		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123298188	123298188	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:123298188G>A	uc021pzz.1	-	5	1313	c.666C>T	c.(664-666)gtC>gtT	p.V222V	FGFR2_uc021pzv.1_Silent_p.V222V|FGFR2_uc021pzw.1_Silent_p.V107V|FGFR2_uc021pzx.1_Silent_p.V133V|FGFR2_uc021pzy.1_Silent_p.V222V|FGFR2_uc010qtl.2_Silent_p.V222V|FGFR2_uc010qtm.2_Silent_p.V107V|FGFR2_uc021qaa.1_Silent_p.V222V|FGFR2_uc021qab.1_Silent_p.V133V|FGFR2_uc021qac.1_Silent_p.V152V|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Silent_p.V241V|FGFR2_uc010qto.2_Silent_p.V126V|FGFR2_uc001lfo.1_Silent_p.V241V|FGFR2_uc010qtp.2_Silent_p.V241V|FGFR2_uc010qtq.2_Silent_p.V241V	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	222	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)	TGTCAGATGGGACCACACTTT	0.453000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					93			10		0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115590997	115590997	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:115590997C>T	uc003vhj.2	-	5	699	c.446G>A	c.(445-447)aGa>aAa	p.R149K	TFEC_uc003vhm.2_Missense_Mutation_p.R82K|TFEC_uc003vhk.2_Missense_Mutation_p.R120K|TFEC_uc003vhl.4_Missense_Mutation_p.R120K|TFEC_uc011kmw.2_Missense_Mutation_p.R239K	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	149	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CCTTCTTCTTCTTTCAACTAT	0.284000														40			14		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13735969	13735969	+	Missense_Mutation	SNP	G	A	A	rs78346432		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13735969G>A	uc003jfd.2	-	66	11570	c.11528C>T	c.(11527-11529)tCg>tTg	p.S3843L	DNAH5_uc003jfc.2_Missense_Mutation_p.S11L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3843			S -> L (in CILD3).		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)					CTGGCGAAGCGAAGTCTGATA	0.478000									Kartagener syndrome					94			38		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41459131	41459131	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41459131C>T	uc002yyq.1	-	21	4386	c.3934G>A	c.(3934-3936)Gac>Aac	p.D1312N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1312	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGAGAAGGGTCCCCAACAGCC	0.463000														68			27		0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4776692	4776692	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:4776692G>A	uc002cxj.2	-	4	754	c.459C>T	c.(457-459)ttC>ttT	p.F153F	ANKS3_uc002cxi.2_Silent_p.F80F|ANKS3_uc021tcj.1_Silent_p.F24F|ANKS3_uc021tck.1_Intron|ANKS3_uc002cxk.3_Silent_p.F24F|ANKS3_uc010uxs.2_Silent_p.F80F|ANKS3_uc002cxm.3_Intron	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	153										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TGTCCAAGAGGAACCTGACCA	0.552000														44			27		0	0	1	0	0
KATNAL1	84056	broad.mit.edu	37	13	30801654	30801654	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:30801654G>A	uc001uss.3	-	8	1143	c.1042C>T	c.(1042-1044)Cct>Tct	p.P348S	KATNAL1_uc001ust.3_Missense_Mutation_p.P348S	NM_001014380	NP_115492	Q9BW62	KATL1_HUMAN	Homo sapiens katanin p60 subunit A-like 1 (KATNAL1), transcript variant 2, mRNA.	348						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		ATTTTGGAAGGATCATCATTT	0.358000														82			10		0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34699853	34699853	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:34699853C>T	uc002nvb.4	+	3	631	c.435C>T	c.(433-435)tcC>tcT	p.S145S	LSM14A_uc002nva.4_Silent_p.S145S|LSM14A_uc010xru.2_Intron|LSM14A_uc002nvc.4_5'UTR	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	145					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CTTTGACATCCTTTGGAACAG	0.328000														27			8		0	0	1	0	0
MBD3	53615	broad.mit.edu	37	19	1581114	1581114	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:1581114G>A	uc002ltj.3	-	4	676	c.654C>T	c.(652-654)ttC>ttT	p.F218F	MBD3_uc002ltk.3_Silent_p.F186F|MBD3_uc002ltl.1_Silent_p.F218F	NM_003926	NP_003917	O95983	MBD3_HUMAN	Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA.	218					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTCACCATGAAGGCTTTGC	0.647000														42			11		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124317829	124317829	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124317829G>C	uc001uft.4	+	25	4385	c.4360G>C	c.(4360-4362)Ggg>Cgg	p.G1454R		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1454	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGATTTGTGGGGCCTTTTCT	0.433000														31			3		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139727966	139727966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:139727966C>T	uc003yvd.3	-	29	2923	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	COL22A1_uc011ljo.2_Missense_Mutation_p.E126K	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	826	Collagen-like 6.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G825fs*8(1)|p.G825C(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGTCCCAGTTCACCTTTTTCT	0.388000										HNSCC(7;0.00092)				107			29		0	0	1	0	0
FNDC4	64838	broad.mit.edu	37	2	27716878	27716878	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27716878C>T	uc002rkx.3	-	3	779	c.373G>A	c.(373-375)Gga>Aga	p.G125R	GCKR_uc002rky.3_5'Flank|GCKR_uc010ezd.3_5'Flank|GCKR_uc010ylu.2_5'Flank	NM_022823	NP_073734	Q9H6D8	FNDC4_HUMAN	Homo sapiens fibronectin type III domain containing 4 (FNDC4), mRNA.	125	Fibronectin type-III.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGACTCTCTCCCCGAAGGCCG	0.607000														85			17		0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5020937	5020937	+	Silent	SNP	G	A	A	rs142184899	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:5020937G>A	uc001qnh.3	+	1	1498	c.393G>A	c.(391-393)cgG>cgA	p.R131R	KCNA1_uc021qts.1_Silent_p.R131R	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	131					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGAAGTTCCGGGAGGACGAGG	0.652000														65			40		0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38137471	38137471	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:38137471C>T	uc001uwo.4	-	22	2628	c.2510G>A	c.(2509-2511)tGa>tAa	p.*837*	POSTN_uc010tet.2_Silent_p.*338*|POSTN_uc001uwp.4_Silent_p.*780*|POSTN_uc001uwr.3_Silent_p.*782*|POSTN_uc001uwq.3_Silent_p.*752*	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	0					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTTGGATTTTCACTGAGAACG	0.323000														41			21		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080819	54080819	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54080819C>T	uc002qbx.1	+	6	2439	c.1005C>T	c.(1003-1005)gcC>gcT	p.A335A	ZNF331_uc002qby.1_Silent_p.A335A|ZNF331_uc002qbz.1_Silent_p.A335A|ZNF331_uc010eqr.1_Silent_p.A335A|ZNF331_uc002qca.1_Silent_p.A335A|ZNF331_uc021uzg.1_Silent_p.A335A|ZNF331_uc021uzh.1_Silent_p.A335A|ZNF331_uc002qcb.1_Silent_p.A335A|ZNF331_uc002qcc.1_Silent_p.A335A|ZNF331_uc002qcd.1_Silent_p.A335A	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GTGGGAAGGCCTTTCGCTGGG	0.512000			T	?	follicular thyroid adenoma									53			19		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124591827	124591827	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124591827T>C	uc001lgs.3	-	10	2742	c.1791A>G	c.(1789-1791)gcA>gcG	p.A597A	CUZD1_uc001lgp.3_Silent_p.A316A|CUZD1_uc009yad.3_Silent_p.A316A|CUZD1_uc009yaf.3_Silent_p.A231A|CUZD1_uc001lgr.3_Silent_p.A316A|CUZD1_uc010qty.2_Silent_p.A316A|CUZD1_uc009yae.3_Silent_p.A316A|CUZD1_uc010qtz.2_Silent_p.A597A	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	597					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		ATTTGTAGTCTGCCCGTTGAT	0.448000														215			21		0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49726605	49726605	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:49726605G>A	uc002itv.4	-	6	1326	c.590C>T	c.(589-591)tCa>tTa	p.S197L	CA10_uc002itw.4_Missense_Mutation_p.S191L|CA10_uc002itx.4_Missense_Mutation_p.S191L|CA10_uc002ity.4_Missense_Mutation_p.S191L|CA10_uc002itz.2_Missense_Mutation_p.S191L	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	191					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TGGGTTTGATGAATCAGAAAC	0.358000														60			26		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92495284	92495284	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92495284G>A	uc001pdj.4	+	3	3949	c.3932G>A	c.(3931-3933)gGg>gAg	p.G1311E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1311	Cadherin 12.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTAAAACTGGGATGGTTTCT	0.453000										TCGA Ovarian(4;0.039)				75			13		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118969759	118969759	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:118969759G>A	uc004bjn.3	+	2	1884	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	PAPPA_uc011lxp.1_Silent_p.L294L|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	501	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						TTAATGAGCTGAAGAACATTC	0.413000														72			22		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130292831	130292832	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130292831_130292832CC>TT	uc010htl.3	+	6	3040_3041	c.3009_3010CC>TT	c.(3007-3012)ttcctt>ttTTtt	p.L1004F		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1004	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATCTTGTTTTCCTTATGGATGG	0.361000														33			11		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29002037	29002037	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29002037C>T	uc001usb.3	-	8	1413	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	FLT1_uc010aar.1_Silent_p.A376A|FLT1_uc001usc.3_Silent_p.A376A|FLT1_uc010tdp.1_Silent_p.A376A	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	376	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ATTTCTCAGTCGCAGGTAACC	0.398000														100			27		0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44804027	44804027	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44804027C>T	uc003tlr.3	+	13	1993	c.1870C>T	c.(1870-1872)Ctg>Ttg	p.L624L	ZMIZ2_uc003tlq.3_Silent_p.L566L|ZMIZ2_uc003tls.3_Silent_p.L598L|ZMIZ2_uc003tlt.3_Silent_p.L247L|ZMIZ2_uc010kyj.3_Silent_p.L146L|ZMIZ2_uc003tlu.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	624					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GTGCTTTGACCTGGAGTCGTA	0.527000														53			18		0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150276484	150276484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:150276484G>A	uc021yfx.1	-	6	793	c.365C>T	c.(364-366)tCc>tTc	p.S122F	ZNF300_uc021yfy.1_Missense_Mutation_p.S106F|ZNF300_uc021yfz.1_Missense_Mutation_p.S70F	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGATGGAAGGAAACTGTCCC	0.388000														83			17		0	0	1	0	0
CARKD	55739	broad.mit.edu	37	13	111277611	111277611	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:111277611C>T	uc001vrc.3	+	3	463	c.372C>T	c.(370-372)atC>atT	p.I124I	CARKD_uc010tji.2_Intron|CARKD_uc010tjj.2_Silent_p.I106I|CARKD_uc001vqz.3_Non-coding_Transcript|CARKD_uc001vra.3_Intron|CARKD_uc010tjk.2_Intron|CARKD_uc010tjl.2_Intron|CARKD_uc001vrb.3_Silent_p.I124I	NM_018210	NP_060680	Q8IW45	CARKD_HUMAN	Homo sapiens carbohydrate kinase domain containing (CARKD), transcript variant 1, mRNA.	124	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						CGGAGCTGATCGTCCACCCAG	0.592000														31			8		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57522848	57522848	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:57522848G>A	uc011kdi.1	+	2	348	c.236G>A	c.(235-237)aGa>aAa	p.R79K		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AATATAAAGAGAAATGAGATG	0.398000														125			21		0	0	1	0	0
ZNF579	163033	broad.mit.edu	37	19	56090216	56090216	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56090216G>A	uc002qlh.3	-	1	843	c.790C>T	c.(790-792)Ccg>Tcg	p.P264S	ZNF579_uc021vby.1_Missense_Mutation_p.P264S	NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	Homo sapiens zinc finger protein 579 (ZNF579), mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GGGCGTGGCGGGGGCCCCCCT	0.721000														15			4		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50553013	50553013	+	Missense_Mutation	SNP	C	T	T	rs149927638	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50553013C>T	uc003bjj.3	+	6	1171	c.1088C>T	c.(1087-1089)tCg>tTg	p.S363L	MOV10L1_uc003bjk.4_Missense_Mutation_p.S363L|MOV10L1_uc011arp.2_Missense_Mutation_p.S343L|MOV10L1_uc011arq.1_Missense_Mutation_p.S124L|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	363					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TCTCAGATGTCGGAGAGCAGT	0.473000														65			16		0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175110674	175110674	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:175110674C>T	uc003mdc.4	+	1	1082	c.438C>T	c.(436-438)tcC>tcT	p.S146S	HRH2_uc003mdd.2_Silent_p.S146S	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	146					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GGGTCATCTCCATTACCCTGT	0.557000														43			18		0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100504670	100504670	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:100504670G>A	uc011cej.2	+	2	483	c.470G>A	c.(469-471)gGa>gAa	p.G157E	MTTP_uc003hvc.4_Missense_Mutation_p.G130E|MTTP_uc003hvb.3_Missense_Mutation_p.G130E	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	130	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CTAATCCATGGAAAGGTAAAG	0.378000														63			21		0	0	1	0	0
BEX5	340542	broad.mit.edu	37	X	101409099	101409099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:101409099C>T	uc022cat.1	-	0	139	c.139G>A	c.(139-141)Gga>Aga	p.G47R	BEX5_uc010nnz.3_Missense_Mutation_p.G47R|BEX5_uc004eir.3_Missense_Mutation_p.G47R	NM_001159560	NP_001153032	Q5H9J7	BEX5_HUMAN	Homo sapiens brain expressed, X-linked 5 (BEX5), transcript variant 2, mRNA.	47						cytoplasm				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						ACATCCTCTCCAAAACCCGGG	0.517000														35			42		0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27689131	27689131	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:27689131G>A	uc003szf.3	-	1	426	c.213C>T	c.(211-213)ttC>ttT	p.F71F	HIBADH_uc003szg.3_Silent_p.F22F|HIBADH_uc003szi.3_Silent_p.F22F	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	71					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	AGGCATCAGGGAACACATCAT	0.363000														43			22		0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44590866	44590866	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44590866C>T	uc002oyg.1	+	4	1451	c.1235C>T	c.(1234-1236)tCa>tTa	p.S412L	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	Homo sapiens zinc finger protein 284 (ZNF284), mRNA.	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TATATGAATTCACAGGGCCAT	0.433000														137			58		0	0	1	0	0
SPAG7	9552	broad.mit.edu	37	17	4864089	4864089	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:4864089G>A	uc002gae.3	-	1	178	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	SPAG7_uc002gaf.3_Missense_Mutation_p.R49C	NM_004890	NP_004881	O75391	SPAG7_HUMAN	Homo sapiens sperm associated antigen 7 (SPAG7), mRNA.	49	R3H.					nucleus	nucleic acid binding|protein binding	p.R49H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						ACCCTTTTACGAAACTCCACT	0.468000														57			27		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874038	36874038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36874038C>T	uc003cgj.3	-	20	7152	c.6904G>A	c.(6904-6906)Gag>Aag	p.E2302K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2302					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTTTCAAACTCCTCCGGGTAG	0.527000														59			27		0	0	1	0	0
TGIF2	60436	broad.mit.edu	37	20	35219337	35219337	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:35219337C>T	uc021wcv.1	+	2	431	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	TGIF2_uc021wcu.1_Missense_Mutation_p.R73W|TGIF2_uc002xfn.3_Missense_Mutation_p.R73W|TGIF2_uc021wcw.1_Missense_Mutation_p.R73W|TGIF2_uc002xfo.3_Intron	NM_001199514	NP_001186443	Q9GZN2	TGIF2_HUMAN	Homo sapiens TGFB-induced factor homeobox 2 (TGIF2), transcript variant 1, mRNA.	73						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CATCAATGCCCGGCGGCGGCT	0.522000														348			41		0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102250508	102250508	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:102250508G>A	uc001vpb.3	+	6	1093	c.874G>A	c.(874-876)Gga>Aga	p.G292R	ITGBL1_uc010agb.3_Missense_Mutation_p.G243R|ITGBL1_uc001vpc.4_Missense_Mutation_p.G151R	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	292	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.G292*(2)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGAAGGTCATGGACAGTGTAA	0.428000														81			26		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39022673	39022673	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39022673C>T	uc003xmt.4	+	8	1036	c.791C>T	c.(790-792)tCt>tTt	p.S264F	ADAM32_uc011lch.2_Missense_Mutation_p.S271F|ADAM32_uc003xmu.4_Missense_Mutation_p.S264F	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	264	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGGAAACAATCTTATCTTAAC	0.308000														38			19		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49459669	49459669	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:49459669C>T	uc001jgi.3	-	1	422	c.91G>A	c.(91-93)Gag>Aag	p.E31K	FRMPD2_uc001jgh.3_Missense_Mutation_p.E22K|FRMPD2_uc001jgj.3_Missense_Mutation_p.E22K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	31	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			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)		CAGATTTCCTCCTCAGACAGA	0.577000														73			5		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12639525	12639525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:12639525G>A	uc002gno.2	+	5	762	c.463G>A	c.(463-465)Gag>Aag	p.E155K	MYOCD_uc002gnn.2_Missense_Mutation_p.E155K|MYOCD_uc002gnp.1_Missense_Mutation_p.E59K	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	155	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGCCTTTGAAGAGGACAGCAG	0.547000														130			88		0	0	1	0	0
CORO1A	11151	broad.mit.edu	37	16	30199825	30199825	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30199825G>A	uc010bzq.3	+	10	1644	c.1209G>A	c.(1207-1209)gaG>gaA	p.E403E	BOLA2_uc010bzb.1_Intron|CORO1A_uc002dww.3_Silent_p.E403E|CORO1A_uc002dwx.3_Silent_p.E297E|CORO1A_uc002dwy.1_3'UTR|CORO1A_uc002dwz.1_5'Flank	NM_001193333	NP_009005	P31146	COR1A_HUMAN	Homo sapiens coronin, actin binding protein, 1A (CORO1A), transcript variant 1, mRNA.	403					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						AGAGCCGGGAGCTGAGGGTCA	0.682000														38			20		0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97810277	97810277	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:97810277C>T	uc010yva.2	+	8	1168	c.924C>T	c.(922-924)gcC>gcT	p.A308A	ANKRD36_uc021vlk.1_Silent_p.A274A|ANKRD36_uc010yuz.1_Non-coding_Transcript|ANKRD36_uc010fic.2_Silent_p.A27A|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Non-coding_Transcript	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	308										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AACAACCGGCCTTGAAGGTAT	0.318000														29			9		0	0	1	0	0
RNFT2	84900	broad.mit.edu	37	12	117271695	117271695	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117271695C>T	uc009zwn.3	+	7	1214	c.981C>T	c.(979-981)tcC>tcT	p.S327S	RNFT2_uc001twb.4_Silent_p.S327S|RNFT2_uc001twa.4_Silent_p.S237S|RNFT2_uc001twc.4_Silent_p.S75S	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA.	327						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		ACGACTCCTCCAACAGCTACT	0.582000														24			8		0	0	1	0	0
DDX58	23586	broad.mit.edu	37	9	32493803	32493803	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:32493803G>A	uc003zra.3	-	2	537	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L	DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mjk.1_Silent_p.L82L|DDX58_uc011lnr.1_5'UTR|DDX58_uc010mji.3_Silent_p.L56L	NM_014314	NP_055129	O95786	DDX58_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.	127	CARD 2.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	p.L127L(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CATTCAGACAGATCAGAAATG	0.284000														45			9		0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39994874	39994874	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39994874C>T	uc002olx.2	+	4	874	c.816C>T	c.(814-816)gtC>gtT	p.V272V	DLL3_uc010egq.3_Silent_p.V272V|DLL3_uc002olw.2_Silent_p.V272V	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA.	272					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GATGCCTTGTCCCTGGGCCTG	0.642000														50			22		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167301376	167301376	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:167301376C>T	uc002udu.2	-	11	1652	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	508					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGGAAAAGATCAGTAAATGGT	0.328000														31			12		0	0	1	0	0
PLA2G2D	26279	broad.mit.edu	37	1	20440676	20440676	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:20440676C>T	uc001bcz.3	-	3	386	c.369G>A	c.(367-369)ctG>ctA	p.L123L	PLA2G2D_uc009vpo.3_Non-coding_Transcript	NM_012400	NP_036532	Q9UNK4	PA2GD_HUMAN	Homo sapiens phospholipase A2, group IID (PLA2G2D), mRNA.	123					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGTAGGTGTCCAGGTTGCGCT	0.622000										Multiple Myeloma(11;0.12)				51			16		0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1940297	1940297	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:1940297C>T	uc001qjt.2	+	3	1070	c.264C>T	c.(262-264)ttC>ttT	p.F88F	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Silent_p.F88F|LRTM2_uc010sdx.1_Silent_p.F88F|LRTM2_uc001qjv.2_Intron	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	88						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCTGGGCTTTCGCCAACCTCT	0.622000														125			7		0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39637034	39637034	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39637034C>T	uc002hws.3	-	0	359	c.316G>A	c.(316-318)Gac>Aac	p.D106N		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	106	Coil 1A.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GCCAGGCGGTCGTTCAGGGAT	0.637000														48			50		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118228010	118228010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:118228010C>T	uc004era.4	-	8	1316	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	439										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTGCAGGGATCCCTCTAAAAT	0.473000														20			24		0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64622825	64622825	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64622825G>A	uc010rnq.1	-	4	1138	c.1091C>T	c.(1090-1092)cCt>cTt	p.P364L	EHD1_uc021qkz.1_Missense_Mutation_p.P33L|EHD1_uc001obu.1_Missense_Mutation_p.P350L|EHD1_uc001obv.1_Missense_Mutation_p.P350L	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	350					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GAAGTCCCCAGGGGAGATCTG	0.582000											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		59			25		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134991144	134991144	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:134991144C>T	uc004ezh.3	+	12	1730	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	SAGE1_uc010nry.1_Silent_p.S490S|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	521										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GTATTCCATCCATGAGTACCA	0.403000														23			39		0	0	1	0	0
TMEM50A	23585	broad.mit.edu	37	1	25666982	25666982	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:25666982C>T	uc001bke.3	+	1	177	c.5C>T	c.(4-6)tCt>tTt	p.S2F	C1orf63_uc021ojj.1_5'Flank|TMEM50A_uc010oeq.2_Missense_Mutation_p.S2F|TMEM50A_uc009vrr.3_Intron|TMEM50A_uc009vrs.3_Intron	NM_014313	NP_055128	O95807	TM50A_HUMAN	Homo sapiens transmembrane protein 50A (TMEM50A), mRNA.	2						endoplasmic reticulum|integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		AAAAAAATGTCTGGATTTCTA	0.368000														73			7		0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2498891	2498891	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2498891C>T	uc002cqd.1	+	10	1218	c.1130C>T	c.(1129-1131)gCc>gTc	p.A377V	CCNF_uc002cqe.1_Missense_Mutation_p.A69V	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	377	Cyclin N-terminal.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination	SCF ubiquitin ligase complex|centriole|nucleus	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ATCCGGGAGGCCGTATGGCTC	0.587000														110			34		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105525	168105525	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:168105525G>A	uc002udx.3	+	8	7712	c.7623G>A	c.(7621-7623)aaG>aaA	p.K2541K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.K2366K|XIRP2_uc010fpq.3_Silent_p.K2319K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2366					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAATTTAAGACACCTTTAA	0.318000														125			43		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7401451	7401451	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7401451C>T	uc002ghf.4	+	7	1643	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	POLR2A_uc002ghe.3_Silent_p.I419I	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	419					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCAAGTACATCATCCGAGACA	0.537000														47			32		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47241496	47241497	+	Missense_Mutation	DNP	CC	TT	TT	rs145043273		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:47241496_47241497CC>TT	uc002ion.2	+	7	1052_1053	c.993_994CC>TT	c.(991-996)ctccgc>ctTTgc	p.R332C	B4GALNT2_uc010wlt.1_Missense_Mutation_p.R246C|B4GALNT2_uc010wlu.1_Missense_Mutation_p.R272C	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	332					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			AGACTTTCCTCCGCCCCCACAA	0.505000														189			43		0	0	1	0	0
OR8U8	504189	broad.mit.edu	37	11	56143959	56143959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56143959C>T	uc001nit.2	+	0	860	c.860C>T	c.(859-861)cCc>cTc	p.P287L		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										ATGTTGAATCCCTTAATCTAT	0.373000														214			17		0	0	1	0	0
LOC728819	728819	broad.mit.edu	37	2	43902632	43902632	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:43902632C>T	uc010fav.1	-	0	830	c.830G>A	c.(829-831)gGa>gAa	p.G277E	PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.2_Intron	NM_001101330	NP_001094800			Homo sapiens hCG1645220 (LOC728819), mRNA.														all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGGGGTCAGTCCATTGAAAGT	0.433000														51			13		0	0	1	0	0
ZNF295	49854	broad.mit.edu	37	21	43413171	43413171	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43413171G>A	uc021wjo.1	-	0	1034	c.1034C>T	c.(1033-1035)tCg>tTg	p.S345L	ZNF295_uc002yzz.4_Missense_Mutation_p.S345L|ZNF295_uc002zab.4_Missense_Mutation_p.S345L|ZNF295_uc002yzy.4_Missense_Mutation_p.S345L|ZNF295_uc002zaa.4_Missense_Mutation_p.S345L|ZNF295_uc010gov.1_Missense_Mutation_p.S345L|ZNF295_uc002zac.2_Missense_Mutation_p.S345L	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	345					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						GCTATCCATCGACAATGACCG	0.478000														52			25		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72234479	72234479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:72234479G>A	uc003xyu.3	-	4	867	c.227C>T	c.(226-228)cCa>cTa	p.P76L	EYA1_uc003xyt.4_Missense_Mutation_p.P43L|EYA1_uc003xyr.4_Missense_Mutation_p.P76L|EYA1_uc010lzf.3_5'UTR|EYA1_uc003xys.4_Missense_Mutation_p.P76L|EYA1_uc011lfe.2_Missense_Mutation_p.P76L|EYA1_uc003xyv.3_5'UTR	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	76					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGTTGGTCGTGGGCTGAAACT	0.343000														63			18		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831800	61831800	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61831800G>A	uc001jky.3	-	36	9177	c.8839C>T	c.(8839-8841)Cag>Tag	p.Q2947*	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.	2947					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						CTGGAAGGCTGATCAAGCAAT	0.443000														71			30		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111540184	111540184	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:111540184C>T	uc003kpv.1	-	15	1537	c.1263_splice	c.e15-1	p.S421_splice	EPB41L4A_uc003kpp.1_Splice_Site_p.S48_splice	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	421						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)		TTGTAGAGTCCACTGGAGAGA	0.507000														72			35		0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	36979297	36979297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36979297C>T	uc002xic.1	+	2	358	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	108					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ATCTCCGACTCCTCCATCCGG	0.612000														69			29		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33703274	33703274	+	Missense_Mutation	SNP	G	A	A	rs143961677	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:33703274G>A	uc001uuw.3	-	4	1666	c.1540C>T	c.(1540-1542)Cat>Tat	p.H514Y	STARD13_uc001uuu.3_Missense_Mutation_p.H506Y|STARD13_uc001uuv.3_Missense_Mutation_p.H396Y|STARD13_uc001uux.3_Missense_Mutation_p.H479Y|STARD13_uc010abh.1_Missense_Mutation_p.H499Y|STARD13_uc021rhz.1_Missense_Mutation_p.H506Y|STARD13_uc021ria.1_Missense_Mutation_p.H396Y	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	514					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AATGTATCATGAGTTTGCAGT	0.468000														74			27		0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72967122	72967122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:72967122C>T	uc004ahr.2	+	24	3298	c.3181C>T	c.(3181-3183)Cct>Tct	p.P1061S	SMC5_uc011lry.1_Missense_Mutation_p.P206S	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	1061					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GCAAAATCTTCCTTATTCTGA	0.378000														96			37		0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121188021	121188021	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:121188021G>A	uc003kss.3	+	0	372	c.363G>A	c.(361-363)gaG>gaA	p.E121E		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	121	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.R120Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		AGTCCCGGGAGGAGACCGAGC	0.572000														57			18		0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	156956528	156956528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:156956528C>T	uc010lqs.3	+	1	403	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	UBE3C_uc003wnf.2_Intron|UBE3C_uc003wng.2_Missense_Mutation_p.R31C	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	31	Cis-determinant of acceptor ubiquitin- binding.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCTTTTACATCGTACTCAGGA	0.328000														75			30		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79454396	79454396	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:79454396T>G	uc001xun.3	+	11	2546	c.2055T>G	c.(2053-2055)tgT>tgG	p.C685W	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.C810W	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAGATTCATGTGCCAACCAGG	0.433000														62			28		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815707	158815707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158815707G>A	uc001fsz.1	+	4	1101	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	301	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAGAATTATCGAAATAGCAAA	0.338000														92			39		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834595	61834595	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61834595C>T	uc001jky.3	-	36	6382	c.6044G>A	c.(6043-6045)aGa>aAa	p.R2015K	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.	2015					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						TACTTGCACTCTCTCTGGCAG	0.443000														115			26		0	0	1	0	0
TUT1	64852	broad.mit.edu	37	11	62359062	62359062	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62359062G>A	uc001nto.2	-	0	48	c.10C>T	c.(10-12)Cct>Tct	p.P4S		NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	Homo sapiens terminal uridylyl transferase 1, U6 snRNA-specific (TUT1), mRNA.	0					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|RNA uridylyltransferase activity|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GATCCGATAGGAAGTGACATA	0.572000														7			4		0	0	1	0	0
RIMS3	9783	broad.mit.edu	37	1	41101655	41101655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:41101655G>A	uc001cfu.1	-	3	757	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	RIMS3_uc001cfv.1_Missense_Mutation_p.R98W	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA.	98					neurotransmitter transport	cell junction|synapse		p.R98W(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CGTGTGACCCGGCTCCGCATC	0.682000														50			21		0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2869055	2869055	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:2869055C>T	uc001lwn.3	+	15	1961	c.1853C>T	c.(1852-1854)tCc>tTc	p.S618F	KCNQ1_uc001lwo.3_Missense_Mutation_p.S491F	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	618	Subunits assembly domain.				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CAGCTGCTCTCCTTGCACGGT	0.692000														5			4		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91795141	91795141	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:91795141C>T	uc002bqv.3	+	3	1435	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	SV2B_uc002bqt.3_Silent_p.L182L|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.L31L	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	182					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CAGCATGTCTCTGGCCGTCAA	0.562000														155			11		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637430	248637430	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248637430C>T	uc001iel.1	+	0	779	c.779C>T	c.(778-780)tCc>tTc	p.S260F		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S260S(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			TTCGGTGCTTCCTTCTACACC	0.557000														363			103		0	0	1	0	0
IGFL3	388555	broad.mit.edu	37	19	46627344	46627344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46627344G>A	uc002pea.1	-	2	174	c.149C>T	c.(148-150)cCt>cTt	p.P50L		NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN	Homo sapiens IGF-like family member 3 (IGFL3), mRNA.	50						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		CTGCTCTGAAGGGTTGTAGAT	0.557000														104			44		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216348787	216348787	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:216348787G>A	uc001hku.1	-	20	4821	c.4434C>T	c.(4432-4434)atC>atT	p.I1478I	USH2A_uc001hkv.3_Silent_p.I1478I	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1478					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)		TTGTGCTGTTGATTCCTTTAA	0.418000										HNSCC(13;0.011)				49			17		0	0	1	0	0
LOC401127	401127	broad.mit.edu	37	4	39482942	39482942	+	RNA	SNP	A	C	C	rs10010309	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:39482942A>C	uc011byn.2	+	0		c.1068A>C								Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA.																		ACATCTGGAAACTTCAGACGA	0.453000														71			6		0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6422854	6422854	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6422854C>T	uc001qnr.3	+	2	346	c.198C>T	c.(196-198)gcC>gcT	p.A66A	PLEKHG6_uc001qns.3_Silent_p.A66A|PLEKHG6_uc010sew.2_Silent_p.A66A|PLEKHG6_uc010sex.2_Silent_p.A34A	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	66					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CTGGCCAGGCCCGAGGCCTGT	0.642000														66			30		0	0	1	0	0
DOK4	55715	broad.mit.edu	37	16	57507918	57507918	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:57507918G>A	uc010cdb.3	-	5	893	c.633C>T	c.(631-633)ttC>ttT	p.F211F	DOK4_uc002elv.4_Silent_p.F211F	NM_018110	NP_060580	Q8TEW6	DOK4_HUMAN	Homo sapiens docking protein 4 (DOK4), mRNA.	211	IRS-type PTB.						insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						CTTGTGTCTGGAAGGTATAGA	0.572000														70			10		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100268916	100268916	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:100268916C>T	uc021xqi.1	-	1		c.191G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	ATGCGAACTTCATGAGCCTTA	0.338000														57			22		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40944474	40944474	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:40944474G>A	uc002xkg.3	-	11	2212	c.2028C>T	c.(2026-2028)acC>acT	p.T676T	PTPRT_uc010ggj.3_Silent_p.T676T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	676	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TAAATGGCTGGGTGACAGGCA	0.517000														90			52		0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47650329	47650329	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:47650329C>T	uc010jzj.1	+	5	2035	c.2034C>T	c.(2032-2034)ttC>ttT	p.F678F	GPR111_uc003oyy.3_Silent_p.F610F	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	678					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCCTGGCCTTCCACATTATCT	0.478000														49			20		0	0	1	0	0
USO1	8615	broad.mit.edu	37	4	76650013	76650013	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:76650013C>A	uc003hiu.3	+	0	185	c.10C>A	c.(10-12)Ctc>Atc	p.L4I	AK311578_uc010iiy.3_5'Flank	NM_003715	NP_003706	O60763	USO1_HUMAN	Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA.	4	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	Golgi membrane|cytosol	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATGAATTTCCTCCGCGGGGT	0.642000														41			6		0.00307968	0.00308174	1	1	0
PSME4	23198	broad.mit.edu	37	2	54159124	54159124	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:54159124A>G	uc002rxp.2	-	9	1220	c.1164T>C	c.(1162-1164)ctT>ctC	p.L388L	PSME4_uc010yop.1_Silent_p.L274L|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Silent_p.L373L	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	388					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTTGATCAGTAAGCTTGTGGC	0.443000														54			30		0	0	1	0	0
ZNF563	147837	broad.mit.edu	37	19	12429458	12429458	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12429458G>A	uc002mtp.3	-	3	1619	c.1381C>T	c.(1381-1383)Ccc>Tcc	p.P461S		NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	Homo sapiens zinc finger protein 563 (ZNF563), mRNA.	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CATACACTGGGATAAACAAAG	0.378000														109			52		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908493	164908493	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:164908493C>T	uc003fej.4	-	1	570	c.126G>A	c.(124-126)gaG>gaA	p.E42E	SLITRK3_uc003fek.3_Silent_p.E42E|SLITRK3_uc021xgy.1_Silent_p.E42E	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	42						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAAAACAGGGCTCATCTATTT	0.393000										HNSCC(40;0.11)				115			15		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72509738	72509738	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72509738C>T	uc001jrg.3	+	15	2433	c.2433C>T	c.(2431-2433)atC>atT	p.I811I	ADAMTS14_uc001jrh.3_Silent_p.I808I	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	808	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCATTGCCATCCTGGTGAGCC	0.642000														56			11		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86808051	86808051	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:86808051G>A	uc002blz.1	+	9	1591	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q	AGBL1_uc002bma.1_Missense_Mutation_p.R235Q|AGBL1_uc002bmb.1_Missense_Mutation_p.R198Q	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	504					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						ATGTTGGAACGAAAATGTGGA	0.443000														56			35		0	0	1	0	0
RAX	30062	broad.mit.edu	37	18	56939816	56939816	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:56939816C>T	uc002lhx.3	-	1	507	c.320G>A	c.(319-321)gGg>gAg	p.G107E	RAX_uc010dpp.3_Intron	NM_013435	NP_038463	Q9Y2V3	RX_HUMAN	Homo sapiens retina and anterior neural fold homeobox (RAX), mRNA.	107				G -> W (in Ref. 1; AAD23438).	visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		CCGTGCCTCCCCGGGCTCCTT	0.701000														56			16		0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785679	12785679	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12785679G>A	uc009vnn.1	+	3	1002	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	AADACL3_uc001aug.1_Missense_Mutation_p.E187K	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	257							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTTACTTGGAAGTAAGTGT	0.502000														120			63		0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74592677	74592677	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74592677C>T	uc002skx.3	-	24	3312	c.2994G>A	c.(2992-2994)ctG>ctA	p.L998L	SLC4A5_uc002skl.3_5'Flank|DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Silent_p.L864L|DCTN1_uc002sku.3_Silent_p.L864L|DCTN1_uc002skw.2_Silent_p.L991L|DCTN1_uc010ffd.3_Silent_p.L978L|DCTN1_uc002sky.3_Silent_p.L961L	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	998					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GGGTCTCCTCCAGCCGAGTCT	0.577000														43			12		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61769308	61769308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:61769308C>T	uc003xue.3	+	33	7961	c.7469C>T	c.(7468-7470)tCg>tTg	p.S2490L	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2490					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCAGGCCTTTCGCGCACACCC	0.478000														165			33		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108156525	108156525	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108156525C>T	uc003dxa.1	-	25	3214	c.3157G>A	c.(3157-3159)Gag>Aag	p.E1053K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1053						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.E1053D(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						GCTTTTCTCTCCTGCTCAAGG	0.423000														179			18		0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88474181	88474181	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:88474181A>G	uc002ssy.4	+	1	1938	c.247A>G	c.(247-249)Aga>Gga	p.R83G	THNSL2_uc002ssw.4_Missense_Mutation_p.R83G|THNSL2_uc002sta.4_Intron|THNSL2_uc010fhe.3_5'UTR|THNSL2_uc021vkq.1_Missense_Mutation_p.R83G|THNSL2_uc021vkr.1_Missense_Mutation_p.R83G	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	83					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGCCTTCAGCAGATTCCGTCA	0.517000														85			33		0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39156146	39156146	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:39156146C>T	uc003cjc.2	+	5	806	c.629C>T	c.(628-630)tCa>tTa	p.S210L	TTC21A_uc003cja.3_Missense_Mutation_p.S210L|TTC21A_uc010hho.2_Missense_Mutation_p.S132L|TTC21A_uc003cjb.3_Silent_p.F76F|TTC21A_uc011ayx.1_Missense_Mutation_p.S169L|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	210							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACTGTGACTTCAGGGAGCTTC	0.552000														105			47		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26115908	26115908	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:26115908G>A	uc002gzu.3	-	3	509	c.245C>T	c.(244-246)cCa>cTa	p.P82L	NOS2_uc010crh.1_Missense_Mutation_p.P82L|NOS2_uc010wab.1_Missense_Mutation_p.P82L	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	82					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CACATGCCGTGGGGAGGACAA	0.532000														69			61		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145629432	145629432	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:145629432G>A	uc003ijs.2	+	6	1950	c.1270G>A	c.(1270-1272)Gtg>Atg	p.V424M		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	424						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCCCCCCGAAGTGTTTGCTCA	0.532000														69			16		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46976939	46976939	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46976939G>A	uc003oyt.3	-	10	2431	c.2232C>T	c.(2230-2232)ctC>ctT	p.L744L	GPR110_uc011dwl.2_Silent_p.L432L	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	744					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAAAAGCCAGGAGTGGTTTGC	0.473000														68			20		0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121188184	121188184	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:121188184G>A	uc003kss.3	+	0	535	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	176	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GTCGTTGCTGGAATTGCACGC	0.507000														151			19		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35752159	35752159	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:35752159C>T	uc010zvu.2	-	15	1920	c.1829G>A	c.(1828-1830)cGa>cAa	p.R610Q	C20orf132_uc002xgk.3_Missense_Mutation_p.R242Q	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				CGTAGCTGCTCGAAGCCTGTT	0.483000														33			6		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150881794	150881794	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:150881794C>T	uc003eyp.3	+	7	1351	c.1222C>T	c.(1222-1224)Ccc>Tcc	p.P408S	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Missense_Mutation_p.P408S|MED12L_uc003eyo.3_Missense_Mutation_p.P408S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	408					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCCAGCCTCCCCATGCCGGG	0.522000														84			23		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189065209	189065209	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:189065209C>T	uc003izm.1	+	4	893	c.778C>T	c.(778-780)Cag>Tag	p.Q260*	TRIML1_uc003izn.1_5'UTR	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	260					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ACTCTTGCTTCAGTGTCCAGA	0.552000														29			8		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150554705	150554705	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150554705C>T	uc003why.1	+	2	5365	c.1147C>T	c.(1147-1149)Cat>Tat	p.H383Y	ABP1_uc003whz.1_Missense_Mutation_p.H383Y|ABP1_uc003wia.1_Missense_Mutation_p.H383Y	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	383					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CAGCGTCACTCATGAGTTAGC	0.617000														112			36		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3905638	3905638	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3905638G>A	uc010xhz.2	+	4	844	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	ATCAY_uc002lyy.4_Missense_Mutation_p.E115K			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	115					transport		protein binding	p.D120D(1)		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)		GAATGGCAACGAACTGGAGTG	0.577000														62			25		0	0	1	0	0
SENP8	123228	broad.mit.edu	37	15	72432043	72432043	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72432043C>T	uc021spq.1	+	1	412	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F	SENP8_uc021spr.1_Missense_Mutation_p.L27F|SENP8_uc021sps.1_Missense_Mutation_p.L27F|SENP8_uc021spt.1_Missense_Mutation_p.L27F|SENP8_uc002atp.3_Missense_Mutation_p.L27F|SENP8_uc021spu.1_Missense_Mutation_p.L27F	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN	Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.	27	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						GCCAAGCTGGCTCAATGACCA	0.488000														205			66		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140953629	140953629	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140953629C>T	uc004cog.3	+	29	4717	c.4572C>T	c.(4570-4572)gcC>gcT	p.A1524A	CACNA1B_uc022bqn.1_Silent_p.A1524A|CACNA1B_uc011mfd.2_Silent_p.A1125A|CACNA1B_uc004coi.3_Silent_p.A738A	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1524					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGATCATCGCCTTTGGGGTGC	0.498000														11			4		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12649361	12649361	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:12649361C>T	uc002gno.2	+	8	1396	c.1097C>T	c.(1096-1098)cCa>cTa	p.P366L	MYOCD_uc002gnn.2_Missense_Mutation_p.P366L|MYOCD_uc002gnp.1_Missense_Mutation_p.P270L|MYOCD_uc002gnq.2_Missense_Mutation_p.P85L	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	366					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AAACCAGGCCCACTCCCACCT	0.408000														109			14		0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127409777	127409777	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:127409777C>T	uc001liq.1	+	1	406	c.113C>T	c.(112-114)tCa>tTa	p.S38L	FLJ37035_uc001lim.2_5'Flank|C10orf137_uc001lin.3_Missense_Mutation_p.S38L|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Missense_Mutation_p.S38L	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AATTAGGGATCAGCTTTATTT	0.398000														97			35		0	0	1	0	0
COMMD1	150684	broad.mit.edu	37	2	62132963	62132963	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:62132963C>T	uc002sbp.3	+	0	161	c.150C>T	c.(148-150)ccC>ccT	p.P50P		NM_152516	NP_689729	Q8N668	COMD1_HUMAN	Homo sapiens copper metabolism (Murr1) domain containing 1 (COMMD1), mRNA.	50					copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	Cul2-RING ubiquitin ligase complex|cell junction|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			AGTTCCGCCCCTTTCTGGCAA	0.597000														48			12		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96745809	96745809	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96745809C>T	uc001kka.4	+	7	1194	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F	CYP2C9_uc009xut.3_Missense_Mutation_p.S388F	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	390					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.I389T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	ATATTAATTTCCCTGACTTCT	0.378000														134			47		0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37180580	37180580	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:37180580G>A	uc001wtz.2	-	6	856	c.546C>T	c.(544-546)ttC>ttT	p.F182F	SLC25A21_uc021rsf.1_Silent_p.F182F	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.	182					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)		AAACCATGTTGAAAACTCCAT	0.383000														59			27		0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89671687	89671687	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:89671687C>T	uc003hse.1	-	14	2036	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K	FAM13A_uc003hsa.1_Missense_Mutation_p.E81K|FAM13A_uc003hsb.1_Missense_Mutation_p.E284K|FAM13A_uc003hsd.1_Missense_Mutation_p.E284K|FAM13A_uc003hsc.1_Missense_Mutation_p.E270K|FAM13A_uc011cdq.1_Missense_Mutation_p.E256K|FAM13A_uc003hsf.1_Missense_Mutation_p.E196K|FAM13A_uc003hsg.1_Missense_Mutation_p.E81K|FAM13A_uc010ikr.1_Missense_Mutation_p.E106K	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	610					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TCGCTGTCTTCGTCCAGCAGC	0.602000														97			30		0	0	1	0	0
FAM92A1P2	403315	broad.mit.edu	37	4	183959078	183959078	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:183959078G>A	uc003ivi.4	+	0		c.261G>A								Homo sapiens family with sequence similarity 92, member A3 (FAM92A3), non-coding RNA.																		GAGGATGAATGAAATCAACTC	0.473000														8			5		0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85447412	85447412	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:85447412C>T	uc002blg.3	+	6	748	c.546C>T	c.(544-546)ttC>ttT	p.F182F	SLC28A1_uc010upd.1_Silent_p.F104F|SLC28A1_uc010bnb.3_Silent_p.F182F|SLC28A1_uc010upe.2_Silent_p.F182F|SLC28A1_uc010upf.1_Silent_p.F182F|SLC28A1_uc010upg.1_Silent_p.F182F	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	182					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGGTGTCCTTCGCAGGAATCT	0.592000														109			40		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18829902	18829902	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:18829902G>A	uc003zne.4	+	22	4328	c.4176G>A	c.(4174-4176)ccG>ccA	p.P1392P	ADAMTSL1_uc003znf.4_Silent_p.P93P	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1392						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCACTGGACCGAACCTTCCTT	0.567000														27			13		0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861395	55861395	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55861395C>T	uc010rix.2	+	0	612	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TAGCTGGATTCACTCTTCTTA	0.453000														98			26		0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67333348	67333348	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67333348G>A	uc002esu.2	-	5	955	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	KCTD19_uc002est.2_Silent_p.L74L|KCTD19_uc010vjj.1_Silent_p.L45L	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	302						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGCTGGCCCAGCGCAGAGTCC	0.627000														78			31		0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28285047	28285047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:28285047G>A	uc001bpg.3	+	7	1257	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	SMPDL3B_uc010ofq.2_Missense_Mutation_p.E150K|SMPDL3B_uc010ofr.2_Missense_Mutation_p.E308K|XKR8_uc001bph.1_5'Flank	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	356					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GCCGCGCTGGGAGCTCGAGTA	0.627000														76			8		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125081671	125081671	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:125081671G>A	uc003yqw.3	+	28	3995	c.3789G>A	c.(3787-3789)aaG>aaA	p.K1263K	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1263						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAATGCTCAAGAAGAAACCCA	0.468000														51			19		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31404690	31404690	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31404690C>T	uc010cap.1	+	0	58	c.9C>T	c.(7-9)ttC>ttT	p.F3F	ITGAD_uc010vfl.1_Silent_p.F3F|ITGAD_uc002ebv.1_Silent_p.F3F	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	3					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGATGACCTTCGGCACTGTGC	0.587000														87			34		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70964202	70964202	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:70964202C>T	uc003pfg.4	-	24	1855	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N	COL9A1_uc003pfe.4_Missense_Mutation_p.D139N|COL9A1_uc003pff.4_Missense_Mutation_p.D323N	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	566	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.G565A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AATCCTGCATCACCAGGAGGC	0.383000														69			8		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176708836	176708836	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176708836G>A	uc001gkz.3	+	12	5037	c.3873G>A	c.(3871-3873)gaG>gaA	p.E1291E	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1291					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCCCGGAGAGCATCAGCAGC	0.458000														64			36		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207025	58207025	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:58207025C>T	uc001vhq.1	+	0	1237	c.345C>T	c.(343-345)atC>atT	p.I115I	PCDH17_uc010aec.1_Silent_p.I115I	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	115	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACAAGGAGATCTGCATGATCA	0.592000														26			14		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42306227	42306227	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:42306227C>T	uc001uyj.3	-	21	2561	c.2491G>A	c.(2491-2493)Gac>Aac	p.D831N	KIAA0564_uc001uyk.3_Missense_Mutation_p.D831N	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	831						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		AAAGGTGAGTCTTCATATACA	0.343000														53			15		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113442792	113442792	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113442792C>T	uc001tuj.3	+	6	1373	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	OAS2_uc001tui.1_Silent_p.L411L	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	411	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	p.L411L(2)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATGCCGATCTCGTCGTGTTCC	0.478000														52			19		0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26821441	26821441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:26821441C>T	uc010wan.2	+	8	1433	c.1366C>T	c.(1366-1368)Ctc>Ttc	p.L456F	SLC13A2_uc010wam.2_Missense_Mutation_p.L363F|SLC13A2_uc002hbh.3_Missense_Mutation_p.L407F|SLC13A2_uc010wao.2_Missense_Mutation_p.L364F|SLC13A2_uc002hbi.3_Missense_Mutation_p.L336F	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	407						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCCTCTTGGCCTCCTCGACTG	0.567000											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			30		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1418203	1418203	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1418203C>T	uc002qwr.3	+	1	109	c.23C>T	c.(22-24)tCt>tTt	p.S8F	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.S8F|TPO_uc002qww.3_Missense_Mutation_p.S8F|TPO_uc002qwx.3_Missense_Mutation_p.S8F|TPO_uc002qwu.3_Missense_Mutation_p.S8F|TPO_uc010yio.2_Missense_Mutation_p.S8F|TPO_uc010yip.2_Missense_Mutation_p.S8F	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	8					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCTGTGCTGTCTGTCACGCTG	0.507000														28			13		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51853778	51853778	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51853778C>T	uc001rys.1	+	7	1077	c.899C>T	c.(898-900)gCc>gTc	p.A300V	SLC4A8_uc010sni.2_Missense_Mutation_p.A247V|SLC4A8_uc001rym.3_Missense_Mutation_p.A247V|SLC4A8_uc001ryn.3_Missense_Mutation_p.A247V|SLC4A8_uc001ryo.2_Missense_Mutation_p.A247V|SLC4A8_uc001ryp.1_Missense_Mutation_p.A247V|SLC4A8_uc010snj.2_Missense_Mutation_p.A327V|SLC4A8_uc001ryq.4_Missense_Mutation_p.A300V|SLC4A8_uc001ryr.3_Missense_Mutation_p.A300V|SLC4A8_uc010snk.2_Missense_Mutation_p.A247V	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	300					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GGGGCCGAGGCCTCCAATGTC	0.463000														210			24		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216062391	216062391	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:216062391C>T	uc001hku.1	-	40	7987	c.7600G>A	c.(7600-7602)Gga>Aga	p.G2534R		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2534	Fibronectin type-III 12.				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)		ACTACAGGTCCAGGTTCTGTA	0.413000										HNSCC(13;0.011)				53			17		0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70190728	70190728	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:70190728C>T	uc002eyf.1	+	18	3543	c.2586C>T	c.(2584-2586)ttC>ttT	p.F862F	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Silent_p.F762F|PDPR_uc002eyg.1_Silent_p.F529F|PDPR_uc002eyh.2_Silent_p.F207F|PDPR_uc010vls.1_Silent_p.F207F|PDPR_uc021tkj.1_5'Flank	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	862					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CCTCCCTCTTCACCCAGAAGC	0.562000														23			4		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737473	13737473	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13737473G>A	uc003jfd.2	-	65	11385	c.11343C>T	c.(11341-11343)ctC>ctT	p.L3781L	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3781	AAA 5 (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)					GCACGACAATGAGACTTTCAT	0.453000									Kartagener syndrome					119			45		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61947987	61947987	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61947987C>T	uc011aau.2	+	20	2707	c.2607C>T	c.(2605-2607)ttC>ttT	p.F869F	COL20A1_uc011aav.2_Silent_p.F690F	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	869	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTCTGCCTTCGGTGGGACCC	0.647000														6			3		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28541300	28541300	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28541300G>A	uc003nlo.3	-	3	2984	c.2366C>T	c.(2365-2367)tCa>tTa	p.S789L		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	789					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttttggttgtgaacttatttc	0.338000														63			16		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72020966	72020966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72020966G>A	uc002atb.1	+	7	1515	c.1436G>A	c.(1435-1437)gGg>gAg	p.G479E	THSD4_uc002atd.1_Missense_Mutation_p.G153E|THSD4_uc010ukg.1_Missense_Mutation_p.G119E|THSD4_uc002ate.2_Missense_Mutation_p.G119E	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	479						proteinaceous extracellular matrix	metalloendopeptidase activity	p.G478*(2)|p.G478E(1)|p.G478V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGGGCGGAGGGACCATGTTC	0.512000														238			20		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35654817	35654817	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35654817G>A	uc003jjo.3	+	6	1078	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	SPEF2_uc003jjn.1_Missense_Mutation_p.E323K|SPEF2_uc003jjq.4_Missense_Mutation_p.E323K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	323					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATAGCCCACGAAGCACAAGA	0.363000														103			22		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3638194	3638194	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3638194G>A	uc002fwo.4	-	20	2671	c.2572C>T	c.(2572-2574)Cta>Tta	p.L858L		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	858					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAGTTAGTTAGGTTAATGTTC	0.463000														167			23		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108383741	108383741	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:108383741C>T	uc001pkk.3	-	5	2604	c.2493G>A	c.(2491-2493)caG>caA	p.Q831Q	EXPH5_uc010rvz.2_Silent_p.Q675Q|EXPH5_uc010rvy.2_Silent_p.Q643Q	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	831					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CAGTTAATTCCTGGTGACAAC	0.388000														138			54		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599310	179599310	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179599310G>A	uc021vsy.1	-	48	11734	c.11509C>T	c.(11509-11511)Ctt>Ttt	p.L3837F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L498F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4764							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)			GCAGGCTCAAGAGTTTTGATG	0.368000														150			28		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87614323	87614323	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:87614323G>A	uc001kdl.1	-	7	1264	c.1163C>T	c.(1162-1164)tCg>tTg	p.S388L	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	388						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	ATAGGGATTCGAACTGTCCTC	0.493000										Multiple Myeloma(13;0.14)				64			27		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28983403	28983403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28983403G>A	uc002kwr.2	+	10	1577	c.1442G>A	c.(1441-1443)gGa>gAa	p.G481E	DSG4_uc002kwq.2_Missense_Mutation_p.G481E	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	481	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACAGCTACAGGAACCATATGT	0.398000														26			13		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20329572	20329572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20329572C>T	uc002dgv.3	-	7	1280	c.1197G>A	c.(1195-1197)agG>agA	p.R399R	GP2_uc002dgw.3_Silent_p.R396R|GP2_uc002dgx.3_Silent_p.R252R|GP2_uc002dgy.3_Silent_p.R249R	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	399	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CATAGCAGTTCCTCAACACCA	0.483000														82			15		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120385964	120385964	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:120385964G>A	uc003vjj.1	+	4	2563	c.1598G>A	c.(1597-1599)cGa>cAa	p.R533Q		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	533					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.R533*(2)		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)					TGTTCACGACGACACAAAAAA	0.448000														84			35		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106554835	106554835	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:106554835G>A	uc003prd.2	+	6	2186	c.1952G>A	c.(1951-1953)cGa>cAa	p.R651Q	PRDM1_uc003pre.3_Missense_Mutation_p.R517Q	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	651					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		ACCCACCTGCGACTCCATTCT	0.547000			"""D, N, Mis, F, S"""		DLBCL									55			40		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149509044	149509044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149509044C>T	uc010lpk.3	+	67	9581	c.9581C>T	c.(9580-9582)gCc>gTc	p.A3194V		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3197	TSP type-1 11.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGTGTTCAGCCTCCTGTGGC	0.697000														39			19		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937626	21937626	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:21937626C>T	uc010tzj.1	-	0		c.3114G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CGTCCTCCTCCTCTGTCACTA	0.493000														113			18		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121785550	121785550	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:121785550G>A	uc003ksw.1	+	8	1809	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	SNCAIP_uc011cwl.1_Missense_Mutation_p.E93K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E169K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E582K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E169K|SNCAIP_uc010jcu.2_Missense_Mutation_p.E131K|SNCAIP_uc011cwm.1_Missense_Mutation_p.E169K|SNCAIP_uc003kta.1_Missense_Mutation_p.E167K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E229K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E475K|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.E51K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	535					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ACAAACAGTAGAACGTGTCAC	0.413000														148			44		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51387809	51387809	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:51387809C>T	uc011bds.2	+	39	4116	c.4093C>T	c.(4093-4095)Cct>Tct	p.P1365S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1365	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGGAAGTTTCCTTTCTTTCT	0.428000														103			45		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47860722	47860722	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:47860722G>A	uc003tny.2	-	45	6951	c.6917C>T	c.(6916-6918)tCc>tTc	p.S2306F	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Missense_Mutation_p.S33F	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2306					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTCATCTTGGGAAAATCTCCC	0.413000														45			17		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39525587	39525587	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39525587G>A	uc003xni.3	+	13	1452	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G442E	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	466	Disintegrin.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TACTGCAATGGAACCTCTAGT	0.393000														125			61		0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651391	1651392	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1651391_1651392GG>AA	uc001lty.3	+	0	359_360	c.321_322GG>AA	c.(319-324)ggggcc>ggAAcc	p.A108T	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	108	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.A108G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTCCAAGGGGGCCTGTGGCTC	0.688000														111			53		0	0	1	0	0
RTBDN	83546	broad.mit.edu	37	19	12945613	12945613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12945613G>A	uc002mvj.3	-	1	382	c.64C>T	c.(64-66)Ctc>Ttc	p.L22F	RTBDN_uc002mvh.1_Missense_Mutation_p.L22F|RTBDN_uc021upo.1_5'Flank	NM_031429	NP_001074466	Q9BSG5	RTBDN_HUMAN	Homo sapiens retbindin (RTBDN), transcript variant 2, mRNA.	0						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						AAGGTGGGGAGGGATTCTGTA	0.582000														58			16		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101348213	101348213	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:101348213G>A	uc010txj.1	-	0	2972	c.2913C>T	c.(2911-2913)gtC>gtT	p.V971V	MIR433_uc021scd.1_5'Flank|MIR127_uc001yig.3_5'Flank|MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	971								p.V971I(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AGAAGAAGAAGACCCAATGCC	0.552000														134			34		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90086735	90086735	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:90086735C>T	uc003kju.3	+	69	14185	c.14089C>T	c.(14089-14091)Ctt>Ttt	p.L4697F	GPR98_uc003kjt.3_Missense_Mutation_p.L2403F|GPR98_uc003kjw.3_Missense_Mutation_p.L358F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4697	Calx-beta 32.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGAAGACTTTCTTTCCACCAG	0.348000														85			40		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8890460	8890460	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:8890460G>A	uc002qzc.2	-	23	3378	c.3196C>T	c.(3196-3198)Cgt>Tgt	p.R1066C	KIDINS220_uc010yiv.1_Missense_Mutation_p.R832C|KIDINS220_uc002qzd.2_Missense_Mutation_p.R1024C|KIDINS220_uc010yiw.1_Missense_Mutation_p.R1067C|KIDINS220_uc002qzb.2_5'UTR|KIDINS220_uc002qze.3_Missense_Mutation_p.R71C	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1066					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGGCAGCACGAACATCTGAA	0.512000														25			9		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125141072	125141072	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125141072C>T	uc004bmg.1	+	4	506	c.371C>T	c.(370-372)cCc>cTc	p.P124L	PTGS1_uc011lys.1_Missense_Mutation_p.P99L|PTGS1_uc010mwb.1_Missense_Mutation_p.P15L|PTGS1_uc004bmf.1_Missense_Mutation_p.P124L|PTGS1_uc004bmh.1_Missense_Mutation_p.P15L|PTGS1_uc011lyt.1_Missense_Mutation_p.P15L	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	124					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	AACCTTATCCCCAGTCCCCCC	0.537000														58			13		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119106955	119106955	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:119106955C>T	uc004bjn.3	+	13	4126	c.3745C>T	c.(3745-3747)Cag>Tag	p.Q1249*	PAPPA_uc011lxq.2_Nonsense_Mutation_p.Q624*	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1249	Sushi 1.				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						CTACGTGCTCCAGATACGGCG	0.582000														47			7		0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114773083	114773083	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:114773083C>T	uc001vui.3	-	18	1800	c.1669_splice	c.e18-1	p.F557_splice	RASA3_uc010tkk.2_Splice_Site_p.F525_splice|RASA3_uc001vuj.3_Splice_Site_p.F174_splice	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	557					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding	p.?(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GATCCAAGAACTAAAGTTGGA	0.532000														47			4		0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43821061	43821061	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:43821061G>A	uc011apz.2	+	1	510	c.169G>A	c.(169-171)Ggc>Agc	p.G57S	MPPED1_uc011apv.2_Missense_Mutation_p.G24S|MPPED1_uc011apw.2_Intron|MPPED1_uc011apx.2_Intron|MPPED1_uc011apy.2_Missense_Mutation_p.G24S	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	24							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CTGCGGCCTGGGCATGGCATT	0.701000														19			18		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581303	140581303	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140581303C>T	uc003liy.3	+	0	1956	c.1956C>T	c.(1954-1956)cgC>cgT	p.R652R		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	652	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.P651L(1)		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)			AGCCTCCGCGCTCGGCCACCG	0.721000														57			21		0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25273727	25273727	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:25273727C>T	uc001isg.1	-	4	867	c.702G>A	c.(700-702)atG>atA	p.M234I	ENKUR_uc001ish.1_Missense_Mutation_p.M172I	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	Homo sapiens enkurin, TRPC channel interacting protein (ENKUR), mRNA.	234						cilium|flagellum	SH3 domain binding|calmodulin binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CTAGTTGTTTCATTTCTTCTT	0.348000														79			6		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48746744	48746744	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48746744G>A	uc002isl.3	+	16	2176	c.2096G>A	c.(2095-2097)tGg>tAg	p.W699*		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	699	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CAGCAGGCATGGATCCAGAAC	0.612000														64			23		0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57057430	57057430	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:57057430G>A	uc002iwx.3	+	6	1433	c.1306G>A	c.(1306-1308)Ggc>Agc	p.G436S	PPM1E_uc010ddd.3_Missense_Mutation_p.G199S	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	445	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GGCCTGTGATGGCTTCTATGA	0.498000														30			15		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1920391	1920391	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1920391G>A	uc001aim.1	-	2	245	c.89C>T	c.(88-90)cCg>cTg	p.P30L	KIAA1751_uc009vkz.1_Missense_Mutation_p.P30L|KIAA1751_uc001ain.1_Missense_Mutation_p.P30L	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	30								p.P30P(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GTCAAACTCCGGATCCTCTAA	0.433000														47			16		0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187130354	187130354	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187130354T>A	uc003iyw.4	+	9	1637	c.1333T>A	c.(1333-1335)Ttc>Atc	p.F445I	CYP4V2_uc010ism.3_Non-coding_Transcript	NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.	445					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TGAGCGGTTCTTCCCCGAGAA	0.527000														117			37		0	0	1	0	0
TMEM5	10329	broad.mit.edu	37	12	64173857	64173857	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:64173857C>T	uc001srq.1	+	0	221	c.117C>T	c.(115-117)tcC>tcT	p.S39S	TMEM5_uc001srs.1_5'Flank	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	Homo sapiens transmembrane protein 5 (TMEM5), mRNA.	39						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		cggccgggtccccgcggggcc	0.721000														12			6		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580724	140580724	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140580724C>T	uc003liy.3	+	0	1377	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	459	Cadherin 5.				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)			ACACCCTGTTCGTCCGCGAGA	0.587000														223			62		0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563286	55563286	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55563286G>A	uc010rim.2	+	0	255	c.255G>A	c.(253-255)gaG>gaA	p.E85E		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AGCTGCTTGAGAACTTGGTAA	0.423000														68			18		0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164272587	164272587	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:164272587C>T	uc003iqn.3	+	3	1344	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y	NPY5R_uc021xtw.1_Missense_Mutation_p.H388Y	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	388					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ACACCTTTTCCATGTGGTAAC	0.343000														91			39		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743007	26743007	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:26743007G>A	uc001mra.2	-	0	568	c.255C>T	c.(253-255)ttC>ttT	p.F85F	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.4_Silent_p.F85F	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	85					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GGTAAGCAATGAAGAAGACTA	0.488000														70			22		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528795	57528795	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:57528795G>A	uc011kdi.1	+	3	740	c.628G>A	c.(628-630)Gag>Aag	p.E210K		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.									p.R209M(1)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						TCATACTAGGGAGAAGTCTTA	0.358000														25			5		0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172241118	172241118	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:172241118G>A	uc003fid.3	-	0	180	c.57C>T	c.(55-57)atC>atT	p.I19I	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Silent_p.I19I|TNFSF10_uc010hwu.2_Silent_p.I19I	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	19					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGAAGATCACGATCAGCACGC	0.562000														81			29		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57372430	57372430	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57372430G>A	uc001cyo.2	+	7	1319	c.1187G>A	c.(1186-1188)gGa>gAa	p.G396E		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	396	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGTTTATCAGGAGACCATTGT	0.423000														127			53		0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68129141	68129141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:68129141C>T	uc002jiq.3	+	2	1149	c.1009C>T	c.(1009-1011)Ctc>Ttc	p.L337F	KCNJ16_uc002jin.3_Missense_Mutation_p.L305F|KCNJ16_uc002jio.3_Missense_Mutation_p.L305F|KCNJ16_uc002jip.3_Missense_Mutation_p.L305F|KCNJ16_uc021uch.1_Missense_Mutation_p.L305F	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	305					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CCGAGAAATTCTCTGGGGCCA	0.403000														116			33		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36287141	36287141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:36287141C>T	uc003oly.3	-	10	2093	c.1915G>A	c.(1915-1917)Gac>Aac	p.D639N		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	639										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						ACCGGCTGGTCCTCCCTGTAT	0.542000														99			32		0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1321317	1321317	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:1321317G>A	uc004cpk.2	-	3	440	c.438C>T	c.(436-438)ctC>ctT	p.L146L	CRLF2_uc022brt.1_Silent_p.L146L|CRLF2_uc004cpl.2_Silent_p.L34L|CRLF2_uc022brs.1_Silent_p.L146L	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	146	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCTCATAGAGGAGATCCCCGT	0.612000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									80			17		0	0	1	0	0
LELP1	149018	broad.mit.edu	37	1	153177391	153177391	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153177391C>T	uc001fbl.3	+	1	318	c.208C>T	c.(208-210)Cct>Tct	p.P70S	LELP1_uc021ozv.1_Missense_Mutation_p.P70S	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	70	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCATCCTGCCCTCCCCAGCC	0.612000														44			24		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265901	39265901	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:39265901C>T	uc001uwv.3	+	0	4729	c.4420C>T	c.(4420-4422)Cag>Tag	p.Q1474*		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1474					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATGCACGGATCAGCCTGGTGT	0.468000														62			21		0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12164447	12164447	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12164447G>A	uc001atq.3	+	3	502	c.280G>A	c.(280-282)Gag>Aag	p.E94K	TNFRSF8_uc010obc.2_5'UTR	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	94					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		p.V93M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CGACCTCGTGGAGAAGACGCC	0.592000														70			28		0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40719134	40719134	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:40719134C>T	uc011aor.2	+	22	5602	c.5391C>T	c.(5389-5391)aaC>aaT	p.N1797N	TNRC6B_uc003aym.3_Silent_p.N993N|TNRC6B_uc003ayn.4_Silent_p.N1687N	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1797					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						GGCCCCCAAACTATTCTTCTA	0.607000														23			9		0	0	1	0	0
DDX25	29118	broad.mit.edu	37	11	125787074	125787074	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:125787074G>A	uc001qcz.4	+	8	1107	c.966G>A	c.(964-966)agG>agA	p.R322R	DDX25_uc010sbk.2_Silent_p.R322R	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	322	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		GTGAGCACAGGAAAGACAAAT	0.468000														16			8		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57417739	57417739	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57417739C>T	uc001cyp.3	-	4	715	c.648G>A	c.(646-648)gtG>gtA	p.V216V	C8B_uc010oon.2_Silent_p.V154V|C8B_uc010ooo.2_Silent_p.V164V	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	216	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTAGCTTTCCACATTGTAGG	0.552000														97			48		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55976645	55976645	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:55976645C>T	uc003has.3	-	8	1482	c.1180G>A	c.(1180-1182)Gga>Aga	p.G394R	KDR_uc003hat.1_Missense_Mutation_p.G394R|KDR_uc011bzx.2_Missense_Mutation_p.G394R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	394	Ig-like C2-type 4.				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			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)	GTGTAATTTCCTGTGTCTCTT	0.408000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				59			31		0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5947473	5947473	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:5947473G>A	uc001alq.2	-	17	2626	c.2358C>T	c.(2356-2358)gtC>gtT	p.V786V	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript|NPHP4_uc009vlu.2_Non-coding_Transcript	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	786					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTTGCCACGACCTCAAGCT	0.642000														47			16		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216595616	216595616	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:216595616G>A	uc001hku.1	-	1	450	c.63C>T	c.(61-63)atC>atT	p.I21I	USH2A_uc001hkv.3_Silent_p.I21I	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	21					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)		AATAGGCAAAGATCAACATTT	0.428000										HNSCC(13;0.011)				72			27		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228673	142228673	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:142228673G>A	uc003ywd.1	-	3	1221	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	SLC45A4_uc003ywc.1_Silent_p.L305L|SLC45A4_uc010meq.1_Silent_p.L303L	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	356					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGGCGGGGCAGCTTGGTCTTG	0.617000														55			15		0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20130761	20130761	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:20130761C>T	uc002zrr.2	+	9	1715	c.1608C>T	c.(1606-1608)ccC>ccT	p.P536P	ZDHHC8_uc002zrq.3_Silent_p.P536P|ZDHHC8_uc010gsa.3_Silent_p.P342P	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	536						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCCGGGAGCCCTCGCCTGTGC	0.706000														26			15		0	0	1	0	0
CXXC5	51523	broad.mit.edu	37	5	139060312	139060312	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:139060312C>T	uc010jfg.1	+	1	494	c.204C>T	c.(202-204)ccC>ccT	p.P68P	CXXC5_uc003let.2_Silent_p.P68P	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.	68					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGTGAGCCCCTCAACAAGA	0.632000														96			29		0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39553606	39553606	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39553606G>A	uc002hwn.3	-	0	239	c.186C>T	c.(184-186)ttC>ttT	p.F62F	KRT31_uc010cxn.3_Silent_p.F62F	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	62	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GGTCGTTCAGGAACTGCATAG	0.622000														83			52		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3723942	3723942	+	Missense_Mutation	SNP	G	C	C	rs146515319	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:3723942G>C	uc001lyh.3	-	22	3684	c.3263C>G	c.(3262-3264)cCg>cGg	p.P1088R	NUP98_uc001lyi.3_Missense_Mutation_p.P1088R|NUP98_uc001lyg.3_Intron	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1105					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGTTTTCAACGGAACCTCAGG	0.512000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									41			14		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115341723	115341723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115341723G>A	uc001lai.4	+	8	1030	c.927G>A	c.(925-927)agG>agA	p.R309R	HABP2_uc021pyr.1_Silent_p.R283R|HABP2_uc010qrz.1_Intron	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	309					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TAGCAGAGAGGAAGATCAAGA	0.572000														122			45		0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163850	141163850	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:141163850C>T	uc010hup.3	+	1	2670	c.2623C>T	c.(2623-2625)Cct>Tct	p.P875S	ZBTB38_uc003etw.3_Missense_Mutation_p.P874S|ZBTB38_uc010hun.3_Missense_Mutation_p.P871S|ZBTB38_uc010huo.3_Missense_Mutation_p.P874S|ZBTB38_uc003ety.3_Missense_Mutation_p.P874S|ZBTB38_uc021xes.1_Missense_Mutation_p.P874S	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	874					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GCAGGAGGAGCCTTTGCCACA	0.478000														55			21		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13418643	13418643	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:13418643G>A	uc002mwy.3	-	14	2175	c.1939C>T	c.(1939-1941)Ccc>Tcc	p.P647S	CACNA1A_uc010dzc.2_Missense_Mutation_p.P173S|CACNA1A_uc010xnd.2_Missense_Mutation_p.P647S|CACNA1A_uc021ups.1_Missense_Mutation_p.P647S|CACNA1A_uc010xne.2_Missense_Mutation_p.P647S|CACNA1A_uc010dze.2_Missense_Mutation_p.P647S|CACNA1A_uc021upt.1_Missense_Mutation_p.P648S	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	648					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AAGTTGGTGGGAGGAGTCCCT	0.542000														83			27		0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120402	47120402	+	Missense_Mutation	SNP	C	T	T	rs61745038	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:47120402C>T	uc001wwg.3	-	0	627	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	180					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.E180K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						TCTTCAAATTCGTCAGCATTA	0.517000														99			50		0	0	1	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28476733	28476733	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:28476733C>T	uc003ceh.3	+	3	633	c.465C>T	c.(463-465)ttC>ttT	p.F155F	ZCWPW2_uc003cei.3_Silent_p.F155F|ZCWPW2_uc010hfo.3_5'UTR	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 2 (ZCWPW2), mRNA.	155	PWWP.						zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AGGCAACATTCGTTGGACATT	0.333000														84			14		0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41628764	41628764	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41628764C>T	uc002opu.1	+	6	916	c.860C>T	c.(859-861)aCc>aTc	p.T287I	CYP2F1_uc021uuv.1_Missense_Mutation_p.T73I|CYP2F1_uc010xvv.1_Missense_Mutation_p.T287I|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	287					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.D286N(1)|p.T287A(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CACATGGATACCCTGCTGATG	0.562000														45			15		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104510873	104510873	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:104510873C>T	uc003hxe.1	-	4	1505	c.1364G>A	c.(1363-1365)aGc>aAc	p.S455N		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	455						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATAGGGTGAGCTTATGAAACT	0.468000														135			47		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043700	20043700	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20043700G>A	uc002dgu.1	-	1	581	c.419C>T	c.(418-420)tCa>tTa	p.S140L	GPR139_uc010vaw.1_Missense_Mutation_p.S47L	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	140						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGCTGGGTATGAGACCGTGTG	0.507000														83			32		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11117651	11117651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:11117651G>A	uc003jfa.1	-	12	2333	c.2188C>T	c.(2188-2190)Cgc>Tgc	p.R730C	CTNND2_uc010itt.2_Missense_Mutation_p.R639C|CTNND2_uc011cmy.1_Missense_Mutation_p.R393C|CTNND2_uc011cmz.1_Missense_Mutation_p.R297C|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.R297C	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	730					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATCCTTCTGCGGGCCTCCTCT	0.542000														77			34		0	0	1	0	0
SOLH	6650	broad.mit.edu	37	16	601394	601394	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:601394C>T	uc002chi.3	+	7	2522	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F	SOLH_uc002chj.3_5'Flank	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	720	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				CATGCCTACTCCATCCTGGAT	0.662000														63			16		0	0	1	0	0
NBPF7	343505	broad.mit.edu	37	1	120378788	120378788	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:120378788G>A	uc010oxk.2	-	6	1579	c.958C>T	c.(958-960)Ccg>Tcg	p.P320S		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	320	NBPF 2.					cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		CTTTCCTCCGGGGAGTCCTGC	0.483000														72			28		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061005	9061005	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9061005C>T	uc002mkp.3	-	2	26645	c.26441G>A	c.(26440-26442)gGa>gAa	p.G8814E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8816	Ser-rich.|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						TGAGTGAGTTCCTGGCCAGGA	0.542000														89			37		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99439351	99439351	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:99439351C>T	uc002szf.1	-	6	1679	c.1385G>A	c.(1384-1386)aGa>aAa	p.R462K		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	462	Pro-rich.									NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						CTCCGCTTCTCTCTCGGGCTC	0.746000														45			11		0	0	1	0	0
GRAMD4	23151	broad.mit.edu	37	22	47062746	47062746	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:47062746C>T	uc003bhx.3	+	8	883	c.834C>T	c.(832-834)atC>atT	p.I278I	GRAMD4_uc010had.3_Silent_p.I217I	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	278					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)		AGTGGAGCATCGTGCCCGAAG	0.617000														104			45		0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12270755	12270755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:12270755C>T	uc001mjz.3	+	21	3097	c.2809C>T	c.(2809-2811)Cat>Tat	p.H937Y	MICAL2_uc010rch.1_Missense_Mutation_p.H747Y|MICAL2_uc001mka.3_Missense_Mutation_p.H937Y|MICAL2_uc010rci.2_Intron|MICAL2_uc001mkb.3_Missense_Mutation_p.H747Y|MICAL2_uc001mkc.3_Intron|MICAL2_uc001mkd.3_Intron|MICAL2_uc010rcj.2_Missense_Mutation_p.H149Y|MICAL2_uc001mkf.3_Intron	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	937						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ttcagggttccattttcatcc	0.458000														49			25		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84700164	84700164	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:84700164C>T	uc002bjz.4	+	27	4958	c.4734C>T	c.(4732-4734)tcC>tcT	p.S1578S		NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1578						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.S1578C(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTCTGACTCCAACTGTGATG	0.512000														220			54		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420389	55420389	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55420389G>A	uc001sgp.4	+	1	544	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	NEUROD4_uc021qyr.1_Missense_Mutation_p.E56K	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	56	Asp/Glu-rich (acidic).				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CAGTATTgaggaagaagaaga	0.478000														44			17		0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2890665	2890665	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:2890665C>T	uc003mug.3	-	6	984	c.863G>A	c.(862-864)gGa>gAa	p.G288E	AY927512_uc003mue.3_Intron|SERPINB9_uc003muf.3_Missense_Mutation_p.G91E	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	288					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				ATCAACAATTCCCAAATGCCG	0.463000														111			37		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1651957	1651957	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1651957C>T	uc002qxa.3	-	16	3659	c.3595G>A	c.(3595-3597)Gag>Aag	p.E1199K		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1199					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTCAGTTTCTCCCGGATCTCA	0.517000														213			46		0	0	1	0	0
MRPS31	10240	broad.mit.edu	37	13	41331094	41331094	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:41331094G>A	uc001uxm.4	-	3	730	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C		NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.	219						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGTCTTGAACGAACTCTAGCT	0.373000														77			26		0	0	1	0	0
ZNF570	148268	broad.mit.edu	37	19	37975632	37975632	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:37975632C>T	uc010efl.1	+	5	1395	c.1276C>T	c.(1276-1278)Cgt>Tgt	p.R426C	ZNF570_uc002ogk.1_Missense_Mutation_p.R370C|ZNF570_uc010xtr.1_Missense_Mutation_p.R167C	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTTAGCCTTCGTGCATACCT	0.428000														96			8		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32972621	32972621	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:32972621C>T	uc001uub.1	+	26	10198	c.9971C>T	c.(9970-9972)cCa>cTa	p.P3324L		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	3324					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAGATGACTCCATTTAAAAAA	0.383000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				53			21		0	0	1	0	0
LOC283547	283547	broad.mit.edu	37	14	39304962	39304962	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:39304962C>T	uc010amw.2	-	0		c.3447G>A			LOC283547_uc021rsj.1_Non-coding_Transcript|LOC283547_uc001wun.3_Non-coding_Transcript|LOC283547_uc001wuo.3_Non-coding_Transcript					Homo sapiens uncharacterized LOC283547 (LOC283547), non-coding RNA.																		GAAGGCCTTTCGGCACAGCTT	0.552000														18			4		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91739116	91739116	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:91739116C>T	uc010aty.3	-	29	6094	c.5940G>A	c.(5938-5940)aaG>aaA	p.K1980K	CCDC88C_uc001xzj.3_Silent_p.K504K|CCDC88C_uc001xzi.3_Silent_p.K430K	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1980					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GACCTGGGCTCTTGGCCGGAA	0.711000														23			14		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10088273	10088273	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10088273G>A	uc002mmq.1	-	41	3209	c.3123C>T	c.(3121-3123)tcC>tcT	p.S1041S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1041	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)			CACTTACCCGGGACCCCTTCT	0.642000														26			6		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5042699	5042699	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:5042699C>T	uc002gau.1	+	21	3458	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C	USP6_uc002gav.1_Missense_Mutation_p.R410C|USP6_uc010ckz.1_Missense_Mutation_p.R93C|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	410					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R410H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATGGGCATCTCGTTTTTCCAC	0.657000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									28			17		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690528	33690528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:33690528C>T	uc002hjg.4	-	1	546	c.299G>A	c.(298-300)gGa>gAa	p.G100E	SLFN11_uc010ctr.3_Missense_Mutation_p.G100E|SLFN11_uc010ctp.3_Missense_Mutation_p.G100E|SLFN11_uc010ctq.3_Missense_Mutation_p.G100E|SLFN11_uc002hjh.4_Missense_Mutation_p.G100E	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	100						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAAACACCTTCCTTGTTGCTT	0.458000														58			19		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558075	140558075	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140558075C>T	uc011dai.2	+	0	705	c.460C>T	c.(460-462)Cct>Tct	p.P154S	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	154	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTGCGTTTCCTCTGAAGAA	0.438000														191			45		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46125901	46125901	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:46125901G>A	uc003gxb.3	-	0	182	c.30C>T	c.(28-30)tcC>tcT	p.S10S		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	10					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		GAAGAAAAGGGGAGAAGAGAA	0.473000														48			6		0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23619259	23619259	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23619259G>A	uc002dlx.1	-	11	3476	c.3276C>T	c.(3274-3276)ctC>ctT	p.L1092L		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	1092	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TAATCACAATGAGCTGAAACA	0.483000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						56			14		0	0	1	0	0
PDIA3P	171423	broad.mit.edu	37	1	146649854	146649854	+	Silent	SNP	C	T	T	rs1053423		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:146649854C>T	uc001epg.1	+	0	425	c.162C>T	c.(160-162)gcC>gcT	p.A54A						Homo sapiens protein disulfide isomerase family A, member 3 pseudogene (PDIA3P), non-coding RNA.																		AGTTCTTCGCCCCCTGGTGTG	0.567000														111			10		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233489572	233489572	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233489572G>A	uc001hvt.4	+	2	1267	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	KIAA1804_uc001hvs.1_Missense_Mutation_p.E336K	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	336	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	p.E336K(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GCTGCTGTGGGAACTGCTCAC	0.488000														66			33		0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71796724	71796724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:71796724G>A	uc002llf.2	-	4	781	c.701C>T	c.(700-702)cCa>cTa	p.P234L	FBXO15_uc002lle.2_Missense_Mutation_p.P158L	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	158								p.L233M(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TGCTAGGCATGGCCATTTTTT	0.373000														37			15		0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14341131	14341131	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:14341131C>T	uc010uza.2	+	11	2169	c.2014C>T	c.(2014-2016)Ctt>Ttt	p.L672F	MKL2_uc002dcg.3_Missense_Mutation_p.L672F|MKL2_uc002dcj.3_5'Flank	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	661	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGCCAGACCCTTGTTGCCAA	0.582000														51			28		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55144597	55144597	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:55144597G>A	uc003han.4	+	14	2402	c.2071G>A	c.(2071-2073)Gat>Aat	p.D691N	PDGFRA_uc003haa.3_Missense_Mutation_p.D451N|PDGFRA_uc010igq.1_Missense_Mutation_p.D585N|PDGFRA_uc003ham.2_Non-coding_Transcript|PDGFRA_uc003hao.1_Missense_Mutation_p.D70N	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	691	Protein kinase.				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			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)	TAAGAATAGGGATAGCTTCCT	0.463000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				79			19		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111080842	111080842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:111080842G>A	uc001vqx.3	+	6	678	c.389G>A	c.(388-390)gGa>gAa	p.G130E		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	130					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGCCCAGGGGAAGGCCGGGC	0.622000														83			18		0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49569672	49569672	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49569672C>T	uc021wxz.1	+	2	2197	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	DAG1_uc021wya.1_Silent_p.F576F|DAG1_uc021wyb.1_Silent_p.F576F|DAG1_uc021wyc.1_Silent_p.F576F|DAG1_uc021wyd.1_Silent_p.F576F|DAG1_uc021wye.1_Silent_p.F576F|DAG1_uc021wyf.1_Silent_p.F576F|DAG1_uc021wyg.1_Silent_p.F576F|DAG1_uc021wyh.1_Silent_p.F576F|DAG1_uc021wyi.1_Silent_p.F576F|DAG1_uc021wyj.1_Silent_p.F576F|DAG1_uc021wyk.1_Silent_p.F576F|DAG1_uc003cxc.4_Silent_p.F576F	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	576	Peptidase S72.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ACGAGTATTTCATGCATGCCA	0.597000														36			28		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43492321	43492321	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:43492321G>A	uc002lbm.3	-	21	4017	c.3917C>T	c.(3916-3918)cCc>cTc	p.P1306L	EPG5_uc002lbo.1_Missense_Mutation_p.P1306L|EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_5'UTR|EPG5_uc002lbn.2_Missense_Mutation_p.P181L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	1306					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGGCAGGAGGGGGTGATCAGA	0.557000														75			10		0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38679711	38679711	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:38679711C>T	uc021rsi.1	+	0	1117	c.1117C>T	c.(1117-1119)Ctg>Ttg	p.L373L	SSTR1_uc001wul.1_Silent_p.L373L	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	373					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)	ACCTGAGAACCTGGAGTCCGG	0.662000														77			15		0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163939	141163939	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:141163939C>T	uc010hup.3	+	1	2759	c.2712C>T	c.(2710-2712)ttC>ttT	p.F904F	ZBTB38_uc003etw.3_Silent_p.F903F|ZBTB38_uc010hun.3_Silent_p.F900F|ZBTB38_uc010huo.3_Silent_p.F903F|ZBTB38_uc003ety.3_Silent_p.F903F|ZBTB38_uc021xes.1_Silent_p.F903F	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	903					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F903F(2)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTGAAGTGTTCGATGACGCAA	0.507000														53			24		0	0	1	0	0
UBA3	9039	broad.mit.edu	37	3	69111302	69111302	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:69111302G>A	uc003dno.3	-	9	742	c.722C>T	c.(721-723)tCt>tTt	p.S241F	UBA3_uc003dnq.3_Missense_Mutation_p.S227F|UBA3_uc011bfy.2_Missense_Mutation_p.S64F|UBA3_uc011bfz.2_Missense_Mutation_p.S64F	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA.	241					protein neddylation|proteolysis	nucleus	ATP binding|acid-amino acid ligase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		CCTGGGCATAGATGCAATGGT	0.368000														119			53		0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62291316	62291316	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62291316G>A	uc002jed.3	-	1	413	c.262C>T	c.(262-264)Cct>Tct	p.P88S	TEX2_uc002jec.3_Missense_Mutation_p.P88S|TEX2_uc002jee.3_Missense_Mutation_p.P88S	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	88					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GAGGCAGCAGGGCCGGCGGGG	0.582000														209			82		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180053204	180053204	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:180053204C>T	uc003mlz.4	-	8	1244	c.1165G>A	c.(1165-1167)Gtg>Atg	p.V389M	FLT4_uc003mma.4_Missense_Mutation_p.V389M|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.2_Missense_Mutation_p.V389M	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	389	Ig-like C2-type 4.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCCTCTGTCACCTCCTTGAGC	0.627000														80			37		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31422419	31422420	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31422419_31422420CC>TT	uc010cap.1	+	12	1428_1429	c.1379_1380CC>TT	c.(1378-1380)tcc>tTT	p.S460F	ITGAD_uc002ebv.1_Missense_Mutation_p.S460F	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	460					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTCGGGGCCTCCCTCTGCTCTG	0.663000														116			18		0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128865607	128865607	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:128865607C>T	uc002tps.3	+	3	551	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	UGGT1_uc010fme.1_Intron|UGGT1_uc002tpr.3_Missense_Mutation_p.R101C	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	125					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCTGTCCCTTCGTTCTTACTC	0.433000														102			51		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27157863	27157863	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:27157863C>T	uc011lno.2	+	1	529	c.87C>T	c.(85-87)atC>atT	p.I29I	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Silent_p.I29I|TEK_uc003zqi.4_Silent_p.I29I|TEK_uc011lnp.2_Intron|TEK_uc003zqj.1_Silent_p.I6I	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	29					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TGATCTTGATCAATTCCCTAC	0.463000														163			83		0	0	1	0	0
TTYH2	94015	broad.mit.edu	37	17	72249256	72249256	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72249256C>T	uc002jkc.3	+	11	1327	c.1296C>T	c.(1294-1296)ccC>ccT	p.P432P	TTYH2_uc010wqw.2_Silent_p.P411P|TTYH2_uc002jkd.3_Silent_p.P111P	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA.	432						chloride channel complex|plasma membrane	chloride channel activity|protein binding	p.P432L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						ATGATGACCCCTTTAACCCCC	0.582000														193			56		0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72742623	72742623	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:72742623G>A	uc003tya.2	+	1	235	c.103G>A	c.(103-105)Gac>Aac	p.D35N	FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Missense_Mutation_p.D30N|FKBP6_uc010lbe.1_Non-coding_Transcript|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	35					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.D35E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CATCTCGGGGGACCGGGGCGT	0.632000														41			9		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47602361	47602361	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47602361G>A	uc003gxm.3	-	20	2909	c.2816C>T	c.(2815-2817)cCa>cTa	p.P939L	CORIN_uc011bzf.2_Missense_Mutation_p.P800L|CORIN_uc011bzg.2_Missense_Mutation_p.P872L	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	939	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CAGCTTAAATGGCACTGaatt	0.363000														37			17		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237936946	237936946	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:237936946C>T	uc001hyl.1	+	86	11893	c.11773C>T	c.(11773-11775)Cag>Tag	p.Q3925*	RYR2_uc010pya.2_Nonsense_Mutation_p.Q340*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3925					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)			AGAGTATATTCAGGTAAACAT	0.368000														24			12		0	0	1	0	0
UCHL1	7345	broad.mit.edu	37	4	41263915	41263915	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:41263915C>T	uc003gvo.3	+	5	530	c.434C>T	c.(433-435)gCc>gTc	p.A145V	UCHL1_uc003gvp.3_Missense_Mutation_p.A64V	NM_004181	NP_004172	P09936	UCHL1_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA.	145					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	p.A145A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GCCCATGATGCCGTGGCACAG	0.458000														42			6		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954365	35954365	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35954365C>T	uc003jjv.2	-	6	1704	c.1511G>A	c.(1510-1512)gGg>gAg	p.G504E	UGT3A1_uc003jjw.2_Non-coding_Transcript	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	504						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCAGCTTCCCACAAAGCCA	0.587000														49			22		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56520202	56520202	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56520202G>A	uc002qmj.3	+	2	491	c.491G>A	c.(490-492)aGc>aAc	p.S164N	NLRP5_uc002qmi.3_Missense_Mutation_p.S164N	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	164						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CAAGGACCAAGCAAGGAAAAA	0.468000														19			4		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825433	74825433	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:74825433G>A	uc021rwl.1	+	0	1947	c.1947G>A	c.(1945-1947)acG>acA	p.T649T	VRTN_uc001xpw.4_Silent_p.T649T	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	649					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						TCGCTACCACGAAGTTCAAGG	0.612000														51			22		0	0	1	0	0
LYZL1	84569	broad.mit.edu	37	10	29580895	29580895	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:29580895G>A	uc001iul.3	+	1	294	c.237G>A	c.(235-237)agG>agA	p.R79R		NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN	Homo sapiens lysozyme-like 1 (LYZL1), mRNA.	33					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				TATTCTCGAGGGCTGGCCTGG	0.522000														23			26		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58711093	58711094	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:58711093_58711094GG>AA	uc001nnh.2	+	1	152_153	c.102_103GG>AA	c.(100-105)caggat>caAAat	p.D35N	GLYATL1_uc001nnf.3_5'UTR|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_5'UTR|GLYATL1_uc001nnj.2_5'UTR	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	0						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	ggtacctgcaggatccaattgt	0.470000														43			13		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29294506	29294507	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29294506_29294507CC>TT	uc002rmt.2	-	0	2621_2622	c.2621_2622GG>AA	c.(2620-2622)agg>aAA	p.R874K		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	874					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCCATGTTCTCCTGGTGGGGCC	0.624000														66			23		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10721541	10721541	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:10721541C>T	uc002czz.1	-	6	1429	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	453					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.E453K(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						ATGGCGAGCTCGTGCTCCAGC	0.637000														51			11		0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6898505	6898505	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6898505C>T	uc010rat.2	+	0	650	c.627C>T	c.(625-627)ctC>ctT	p.L209L		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TATTCATTCTCTTTCCTTTCT	0.507000														77			41		0	0	1	0	0
LOC100505782	100505782	broad.mit.edu	37	17	39566079	39566079	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39566079C>T	uc021txj.1	+	1		c.1500C>T								Homo sapiens uncharacterized LOC100505782 (LOC100505782), non-coding RNA.																		CACTTGGCTCCTTCCCATCCC	0.522000														23			5		0	0	1	0	0
CSH1	1442	broad.mit.edu	37	17	61972439	61972439	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61972439G>A	uc002jcs.2	-	4	747	c.597C>T	c.(595-597)gtC>gtT	p.V199V		NM_001317	NP_001308	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 1 (placental lactogen) (CSH1), mRNA.	199					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GGAATGTCTCGACCTTGTCCA	0.572000									Russell-Silver syndrome					164			16		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79693265	79693265	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:79693265G>A	uc001sys.3	+	8	1415	c.744G>A	c.(742-744)atG>atA	p.M248I	SYT1_uc001syt.3_Missense_Mutation_p.M248I|SYT1_uc001syu.3_Missense_Mutation_p.M245I|SYT1_uc001syv.3_Missense_Mutation_p.M248I	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	248	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AAGTCCCTATGAACACAGTGG	0.418000														125			39		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485045	97485045	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:97485045C>T	uc001vmw.3	+	1	1033	c.1009C>T	c.(1009-1011)Ctg>Ttg	p.L337L		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	337						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AAACACCATCCTGTTGCAGAG	0.488000														94			32		0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939021	76939021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:76939021G>A	uc004ecp.4	-	8	1959	c.1727C>T	c.(1726-1728)tCa>tTa	p.S576L	ATRX_uc004ecq.4_Missense_Mutation_p.S538L|ATRX_uc004eco.4_Missense_Mutation_p.S361L|ATRX_uc004ecr.2_Intron|ATRX_uc010nlx.1_Intron|ATRX_uc010nly.1_Missense_Mutation_p.S521L	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	576					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)	TGTAGTTTTTGATTTAATACC	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							165			43		0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	284265	284265	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:284265G>A	uc010qvs.2	+	5	2237	c.2237G>A	c.(2236-2238)cGa>cAa	p.R746Q	NLRP6_uc010qvt.2_Missense_Mutation_p.R745Q	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	746						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCGGTCTGCCGAGACCTTTCT	0.632000														31			11		0	0	1	0	0
MS4A2	2206	broad.mit.edu	37	11	59857212	59857212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59857212C>T	uc001nop.3	+	1	206	c.104C>T	c.(103-105)tCa>tTa	p.S35L	MS4A2_uc009ymu.3_Missense_Mutation_p.S35L|MS4A2_uc021qka.1_Missense_Mutation_p.S35L	NM_000139	NP_000130	Q01362	FCERB_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA.	35					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GAAGTATCTTCAGGCAGACTA	0.468000														77			36		0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50941853	50941853	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50941853G>A	uc003blp.2	-	13	2122	c.2091C>T	c.(2089-2091)tcC>tcT	p.S697S	LMF2_uc003blo.2_Silent_p.S672S	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	697						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCGAACTACTGGAGCAGGGGT	0.677000														28			15		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99582506	99582506	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:99582506G>A	uc001vnt.2	-	2	307	c.252C>T	c.(250-252)gcC>gcT	p.A84A	DOCK9_uc001vnw.2_Silent_p.A83A|DOCK9_uc021rlw.1_Silent_p.A83A|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.A84A|DOCK9_uc010tis.1_Silent_p.A83A|DOCK9_uc010tit.1_Silent_p.A84A	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	84	Interaction with activated CDC42 (By similarity).				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.A84V(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTCTCAGGATGGCCGTCTGGA	0.552000														11			6		0	0	1	0	0
MIR1324	100302212	broad.mit.edu	37	3	75679997	75679997	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:75679997C>T	uc021xar.1	+	0		c.84C>T								Homo sapiens microRNA 1324 (MIR1324), microRNA.																		TATGCACTTTCCTGGAGGCTC	0.512000														55			6		0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133340	57133340	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57133340C>T	uc002qnm.4	+	2	923	c.685C>T	c.(685-687)Ctc>Ttc	p.L229F	ZNF71_uc021vcg.1_Missense_Mutation_p.L229F	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	229						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GACTTCCTCTCTCACCCAGCA	0.642000														55			19		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114252	117114252	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:117114252C>T	uc003pxj.1	-	5	1856	c.1834G>A	c.(1834-1836)Ggc>Agc	p.G612S	GPRC6A_uc003pxk.1_Missense_Mutation_p.G437S|GPRC6A_uc003pxl.1_Missense_Mutation_p.G541S	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	612					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AATATTATGCCAACAACCAGA	0.418000														63			34		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75866417	75866417	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:75866417C>T	uc003kek.3	+	3	538	c.316C>T	c.(316-318)Cat>Tat	p.H106Y		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	106	CH.				small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GTCTGGCCTTCATTTTCGACA	0.433000														78			25		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50958925	50958925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50958925C>T	uc009xog.3	-	5	971	c.937G>A	c.(937-939)Gag>Aag	p.E313K	OGDHL_uc001jie.3_Missense_Mutation_p.E286K|OGDHL_uc010qgt.2_Missense_Mutation_p.E229K|OGDHL_uc010qgu.2_Missense_Mutation_p.E77K|OGDHL_uc009xoh.2_Missense_Mutation_p.E77K	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	286					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ATCCCCATCTCGCTGGATTTG	0.582000														25			5		0	0	1	0	0
RIMS4	140730	broad.mit.edu	37	20	43384806	43384806	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43384806C>T	uc010ggu.3	-	5	849	c.782G>A	c.(781-783)aGc>aAc	p.S261N	RIMS4_uc002xms.3_Missense_Mutation_p.S260N	NM_001205317	NP_001192246	Q9H426	RIMS4_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 4 (RIMS4), transcript variant 1, mRNA.	260					exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CCCCACGGTGCTCTCGAGGGA	0.677000														105			52		0	0	1	0	0
FCER2	2208	broad.mit.edu	37	19	7755310	7755310	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7755310G>A	uc002mhn.3	-	8	820	c.603C>T	c.(601-603)atC>atT	p.I201I	FCER2_uc021unx.1_Silent_p.I200I|FCER2_uc002mhm.2_Silent_p.I201I|FCER2_uc010xjt.2_Silent_p.I123I	NM_001220500	NP_001207429	P06734	FCER2_HUMAN	Homo sapiens Fc fragment of IgE, low affinity II, receptor for (CD23) (FCER2), transcript variant 3, mRNA.	201	C-type lectin.				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CCGGGCTGTGGATGCTGACCA	0.637000														53			17		0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93742422	93742422	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:93742422C>T	uc001khr.3	+	17	2225	c.2127C>T	c.(2125-2127)tcC>tcT	p.S709S	BTAF1_uc001khs.1_Silent_p.S379S|BTAF1_uc001kht.1_Silent_p.S147S	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	709					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CAGCTGAATCCCTGGGCCAGT	0.408000														84			34		0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135347379	135347379	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:135347379C>T	uc001lnj.1	+	5	978	c.945C>T	c.(943-945)ctC>ctT	p.L315L	CYP2E1_uc001lnk.1_Silent_p.L178L|CYP2E1_uc009ybl.1_Silent_p.L116L|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_Silent_p.L116L	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	315					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TCCTGATTCTCATGAAATACC	0.542000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					62			28		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90747245	90747245	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90747245C>T	uc011lti.2	-	3	736	c.707G>A	c.(706-708)cGg>cAg	p.R236Q		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	236																	AGTGGAGTCCCGCAGGGGAGG	0.592000														121			43		0	0	1	0	0
DOK3	79930	broad.mit.edu	37	5	176931397	176931397	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176931397G>A	uc003mhk.3	-	5	1083	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	DOK3_uc003mhh.4_Intron|DOK3_uc003mhi.4_Intron|DOK3_uc003mhj.4_Intron	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Homo sapiens docking protein 3 (DOK3), transcript variant 1, mRNA.	360	Pro-rich.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGGGGTCCGGGCTCGGCCAGG	0.687000														25			4		0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135554173	135554173	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135554173C>T	uc010mzv.3	+	1	1425	c.1167C>T	c.(1165-1167)agC>agT	p.S389S	GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	389					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GTAGTTGCAGCTTAGTAGTGG	0.443000														123			56		0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117118261	117118261	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117118261G>A	uc004biq.3	-	12	3137	c.3002C>T	c.(3001-3003)cCt>cTt	p.P1001L	AKNA_uc004bin.3_Missense_Mutation_p.P248L|AKNA_uc004bio.3_Missense_Mutation_p.P461L|AKNA_uc004bip.3_Missense_Mutation_p.P920L|AKNA_uc004bir.3_Missense_Mutation_p.P1001L|AKNA_uc004bis.3_Missense_Mutation_p.P1001L|AKNA_uc010mve.2_Missense_Mutation_p.P882L|AKNA_uc004bit.1_5'Flank	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1001					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CTGCCGGAGAGGCCCACTTGG	0.612000														39			28		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75968884	75968884	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:75968884C>T	uc002baw.3	-	9	6069	c.5976G>A	c.(5974-5976)gtG>gtA	p.V1992V		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1992	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCCGCCCGCCCACCAGGAGAT	0.617000														113			16		0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67861377	67861377	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:67861377G>A	uc001ddu.3	+	15	2834	c.2194G>A	c.(2194-2196)Gga>Aga	p.G732R	IL12RB2_uc010oqi.2_3'UTR|IL12RB2_uc010oqj.2_3'UTR|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.G646R|IL12RB2_uc010oqm.2_3'UTR|IL12RB2_uc010oqn.2_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.	732					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AAGGGAAAAAGGAATCCAAGG	0.532000														52			18		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58149057	58149057	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58149057G>A	uc003djj.2	+	43	7363	c.7198_splice	c.e43+1	p.G2400_splice	FLNB_uc010hne.2_Splice_Site_p.G2431_splice|FLNB_uc003djk.2_Splice_Site_p.G2389_splice|FLNB_uc010hnf.2_Splice_Site_p.G2376_splice|FLNB_uc003djl.2_Splice_Site_p.G2220_splice|FLNB_uc003djm.2_Splice_Site_p.G2207_splice|BC041347_uc003djn.3_Non-coding_Transcript	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2400	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGGCACCACAGGTAACCCACT	0.572000														37			21		0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95694267	95694267	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:95694267C>T	uc001tdz.2	+	11	2263	c.2158C>T	c.(2158-2160)Ccc>Tcc	p.P720S	VEZT_uc001tds.3_Missense_Mutation_p.P672S|VEZT_uc001tdv.3_Missense_Mutation_p.P693S|VEZT_uc009ztb.2_Non-coding_Transcript|VEZT_uc009ztc.1_Missense_Mutation_p.P85S|VEZT_uc001tdy.2_Non-coding_Transcript	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.	720						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CTCATTACAGCCCTCCATTAA	0.507000														38			13		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56138249	56138249	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:56138249G>A	uc002xyn.4	+	4	939	c.776G>A	c.(775-777)gGg>gAg	p.G259E	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	259					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AAGGAGGAAGGGTGGCTGGCA	0.597000														64			32		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49662672	49662672	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49662672C>T	uc003cxe.4	+	1	603	c.489C>T	c.(487-489)ccC>ccT	p.P163P		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	163					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGATCGCCCCCCTTCCCAGCA	0.612000														88			32		0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97426937	97426937	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:97426937C>T	uc002swx.3	+	0	299	c.201C>T	c.(199-201)ttC>ttT	p.F67F		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	67					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GCATCATCTTCGTGTCCGAGG	0.647000														47			16		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88583862	88583862	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:88583862G>A	uc003hqv.3	+	5	1036	c.932G>A	c.(931-933)aGa>aAa	p.R311K	DMP1_uc003hqw.3_Missense_Mutation_p.R295K	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	311					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CAACCCAGGAGAGACAGCAAG	0.517000														76			8		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155451384	155451384	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155451384G>A	uc009wqq.3	-	2	1757	c.1277C>T	c.(1276-1278)gCc>gTc	p.A426V	ASH1L_uc001fkt.3_Missense_Mutation_p.A426V|ASH1L_uc009wqr.1_Missense_Mutation_p.A426V	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	426					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)			CAGTGCTTCGGCTTTAAGGTT	0.418000														81			46		0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5540495	5540495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:5540495G>A	uc003soo.2	-	2	1499	c.1405C>T	c.(1405-1407)Ccc>Tcc	p.P469S	FBXL18_uc003son.4_Missense_Mutation_p.P469S	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	469									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GAGGGCTGGGGGCACGCCTGG	0.667000														20			14		0	0	1	0	0
TTC23	64927	broad.mit.edu	37	15	99740154	99740154	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:99740154G>A	uc002bur.3	-	7	1260	c.729C>T	c.(727-729)ctC>ctT	p.L243L	TTC23_uc002bus.3_Silent_p.L243L|TTC23_uc002but.3_Silent_p.L243L|TTC23_uc002buu.3_Silent_p.L243L|TTC23_uc002buv.3_Silent_p.L243L|TTC23_uc002bux.3_Silent_p.L243L|TTC23_uc002buw.3_Silent_p.L243L|TTC23_uc010boq.3_Non-coding_Transcript|TTC23_uc002buy.3_Silent_p.L243L|TTC23_uc010bor.3_Silent_p.L243L|TTC23_uc002buz.2_Silent_p.L243L	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	243							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			ATACATCGTGGAGTCCCAGGG	0.468000														111			79		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5011051	5011051	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5011051C>T	uc001lzv.3	+	1	291	c.273C>T	c.(271-273)tcC>tcT	p.S91S		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	91					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCGACACCTCCATCTCGCCAG	0.517000														50			20		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73405711	73405711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73405711G>A	uc001jrx.4	+	11	1648	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	CDH23_uc001jrw.4_Missense_Mutation_p.E420K|CDH23_uc001jry.3_Missense_Mutation_p.E420K|CDH23_uc001jrz.3_Missense_Mutation_p.E420K|CDH23_uc021psl.1_Missense_Mutation_p.E422K	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	422	Cadherin 4.				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						ACTGGACTACGAGACCGTGGA	0.592000														50			22		0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3312936	3312936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3312936G>A	uc002wii.2	-	10	1105	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S	C20orf194_uc002wij.3_Missense_Mutation_p.P91S|C20orf194_uc002wik.2_Missense_Mutation_p.P26S|C20orf194_uc010gay.1_Non-coding_Transcript	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	352										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CCCAAGTAAGGAACATGAGTA	0.383000														17			9		0	0	1	0	0
NECAP1	25977	broad.mit.edu	37	12	8245339	8245339	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8245339C>T	uc001qtx.2	+	4	529	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	NECAP1_uc001qty.2_Silent_p.L9L	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	Homo sapiens NECAP endocytosis associated 1 (NECAP1), transcript variant 1, mRNA.	151					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TAAGTTGGATCTGGGCTTCAA	0.408000														34			16		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21992957	21992957	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21992957G>A	uc001wbe.3	-	1	1187	c.905C>T	c.(904-906)cCt>cTt	p.P302L	SALL2_uc010tly.2_Missense_Mutation_p.P300L|SALL2_uc010tlz.1_Missense_Mutation_p.P165L|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.P167L|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	302							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGCTGGGGAAGGGGCAGGGGT	0.612000														29			15		0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6679508	6679508	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:6679508G>A	uc022aqv.1	-	4	841	c.690C>T	c.(688-690)atC>atT	p.I230I	XKR5_uc003wqq.3_Silent_p.I67I	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	230						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCTGTCGATGATGTCACTCT	0.587000														7			8		0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967571	48967571	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:48967571C>T	uc002pje.1	+	2	1253	c.848C>T	c.(847-849)cCt>cTt	p.P283L	KCNJ14_uc002pjf.1_Missense_Mutation_p.P283L	NM_013348	NP_733838	Q9UNX9	IRK14_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 14 (KCNJ14), transcript variant 1, mRNA.	283						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)		TCTGCCAGTCCTCTGTATGAG	0.577000														12			7		0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174224139	174224139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:174224139G>A	uc002uic.1	+	2	435	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	CDCA7_uc002uid.1_Intron|CDCA7_uc010zej.1_Missense_Mutation_p.E58K|CDCA7_uc010zek.1_Intron	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	0					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.E102K(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TGTCACTAACGAACTGGCCGG	0.423000														73			28		0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137777709	137777709	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:137777709G>A	uc004cfg.1	+	5	535	c.525G>A	c.(523-525)ctG>ctA	p.L175L	FCN2_uc004cfh.1_Silent_p.L137L	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	175	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	p.L175L(2)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AGTTCTGGCTGGGGAATGACA	0.672000														42			20		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4153693	4153693	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:4153693G>A	uc003smx.3	+	24	3749	c.3610G>A	c.(3610-3612)Ggg>Agg	p.G1204R	SDK1_uc010kso.3_Missense_Mutation_p.G480R	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1204	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.G1204R(2)|p.N1203N(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCAGTACAACGGGAACCCCGA	0.587000														38			17		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76511007	76511007	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76511007C>T	uc010dhp.2	-	25	4087	c.3962G>A	c.(3961-3963)aGg>aAg	p.R1321K		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTCCAAAGACCTCATGTCCTT	0.507000														97			41		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43872643	43872643	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:43872643G>A	uc001uza.4	-	11	1585	c.1285C>T	c.(1285-1287)Ctg>Ttg	p.L429L	ENOX1_uc001uzc.4_Silent_p.L429L|ENOX1_uc001uzb.4_Silent_p.L429L	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	429					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TCCTCTTTCAGAGCGTAGGCC	0.527000														75			32		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701922	56701923	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56701922_56701923CC>TT	uc010ygh.2	-	3	761_762	c.761_762GG>AA	c.(760-762)ggg>gAA	p.G254E		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	254					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGGGTTCCTTCCCCTCCTTTGC	0.485000														81			37		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92564840	92564840	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92564840C>T	uc001pdj.4	+	12	9551	c.9534C>T	c.(9532-9534)ttC>ttT	p.F3178F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3178	Cadherin 29.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGGGTCTTCTCCATTGACA	0.557000										TCGA Ovarian(4;0.039)				29			4		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32636038	32636038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:32636038C>T	uc001mtv.3	-	15	1870	c.1826G>A	c.(1825-1827)gGg>gAg	p.G609E		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	609										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTCTCGAGTCCCTGGAAGCAA	0.333000														36			14		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120288	38120288	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38120288C>T	uc003atr.3	+	6	1996	c.1725C>T	c.(1723-1725)ccC>ccT	p.P575P	TRIOBP_uc003atu.3_Silent_p.P403P|TRIOBP_uc003atq.1_Silent_p.P575P|TRIOBP_uc003ats.1_Silent_p.P403P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	575					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGACAACCCCAGAACATCCT	0.582000														179			31		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124181467	124181467	+	Missense_Mutation	SNP	G	A	A	rs139954729	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124181467G>A	uc003ehg.3	+	24	4139	c.4012G>A	c.(4012-4014)Gat>Aat	p.D1338N	KALRN_uc010hrv.1_Missense_Mutation_p.D1329N|KALRN_uc003ehf.1_Missense_Mutation_p.D1338N|KALRN_uc011bjy.1_Missense_Mutation_p.D1329N|KALRN_uc003ehh.1_Missense_Mutation_p.D684N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1338	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGAGATCTACGATTTCCATAA	0.483000														40			10		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56226561	56226561	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56226561G>A	uc002qly.3	-	5	2389	c.2361C>T	c.(2359-2361)tcC>tcT	p.S787S		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	787						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGGAGTCACAGGAGACAGAGG	0.512000														38			14		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3417829	3417829	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3417829G>A	uc001akl.3	-	18	2585	c.2358C>T	c.(2356-2358)tgC>tgT	p.C786C	MEGF6_uc001akk.3_Silent_p.C681C	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	786	EGF-like 13.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GGCATGCTGGGCAGATCTCCT	0.677000														17			10		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929812	121929812	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:121929812G>A	uc004bkc.2	-	7	2292	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	612					cell cycle arrest|cell death	cytoplasm	protein binding			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						GGACCGTCTCGAAAAATGTTT	0.552000														86			42		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949527	89949527	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89949527G>A	uc003kju.3	+	19	4232	c.4136G>A	c.(4135-4137)gGa>gAa	p.G1379E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1379					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACGGTAATGGAAGCATCTAC	0.408000														19			4		0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6782352	6782352	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:6782352G>A	uc003wqt.3	-	1	332	c.291C>T	c.(289-291)ttC>ttT	p.F97F		NM_001926	NP_001917	Q01524	DEF6_HUMAN	Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA.	97					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		AGAGGCAGCAGAATCTGTGGT	0.418000														82			7		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39606906	39606906	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39606906G>A	uc003xnj.3	-	17	2014	c.1939C>T	c.(1939-1941)Caa>Taa	p.Q647*	ADAM2_uc003xnk.3_Nonsense_Mutation_p.Q628*|ADAM2_uc011lck.2_Nonsense_Mutation_p.Q584*|ADAM2_uc003xnl.3_Nonsense_Mutation_p.Q491*	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	647					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)		AGATCTGATTGAACTGAGCAA	0.383000														120			36		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111671488	111671488	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:111671488C>T	uc010hqa.3	+	10	3112	c.2701C>T	c.(2701-2703)Cga>Tga	p.R901*	PHLDB2_uc003dyc.3_Nonsense_Mutation_p.R885*|PHLDB2_uc003dyd.3_Nonsense_Mutation_p.R858*|PHLDB2_uc003dyg.3_Nonsense_Mutation_p.R901*|PHLDB2_uc003dyh.3_Nonsense_Mutation_p.R858*|PHLDB2_uc003dyi.3_Intron	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	901						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TACTTTGCCTCGAAAGAAAAC	0.443000														82			31		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093446	30093446	+	RNA	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:30093446T>G	uc010dmc.3	+	0		c.1821T>G								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		CCACCCGGCTTGATTCAGCGA	0.542000														154			91		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104641424	104641424	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:104641424G>A	uc001yos.4	+	11	2299	c.2299G>A	c.(2299-2301)Gac>Aac	p.D767N		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	767					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTGGACCCCGACCGCACGCC	0.726000														15			4		0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43652765	43652765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:43652765G>A	uc004dfz.4	-	7	1005	c.829C>T	c.(829-831)Cct>Tct	p.P277S	MAOB_uc011mkx.2_Missense_Mutation_p.P261S|MAOB_uc011mky.2_Missense_Mutation_p.P261S	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	277					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	ATTGGCAGAGGGGGATTGAAG	0.413000														34			48		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27204092	27204092	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:27204092G>A	uc010hfk.3	-	10	1035	c.806_splice	c.e10-1	p.A269_splice	NEK10_uc003cds.1_Splice_Site_p.A354_splice|NEK10_uc010hfj.3_Intron			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	957							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGGCAGCAAAGCTGAAGAAAT	0.418000														58			17		0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54364824	54364824	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:54364824C>T	uc003hag.4	-	4	1218	c.962G>A	c.(961-963)gGa>gAa	p.G321E	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.G225E|LNX1_uc003hah.4_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	321	PDZ 1.			G -> R (in Ref. 3; BAB71291).		cytoplasm	zinc ion binding			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)			AATGATGTCTCCTGGCAGTAG	0.488000														56			22		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566468	136566468	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136566468G>A	uc002tuu.1	-	7	3460	c.3449C>T	c.(3448-3450)tCc>tTc	p.S1150F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1150	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCAGCCCAGGGAGAACTGCAG	0.562000														60			39		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196952140	196952140	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:196952140C>T	uc001gts.4	+	1	312	c.184C>T	c.(184-186)Cct>Tct	p.P62S		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	62	Sushi 1.				complement activation, alternative pathway	extracellular region		p.P62H(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTTTGTGTCTCCTTCAAAATC	0.393000														90			33		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806039	54806039	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:54806039C>T	uc003pck.3	+	4	2386	c.2270C>T	c.(2269-2271)tCa>tTa	p.S757L		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	757										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAACTTGCTTCAAAGAAGGAA	0.383000														57			16		0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51685950	51685950	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51685950C>T	uc001ryg.3	-	9	992	c.940G>A	c.(940-942)Gag>Aag	p.E314K	BIN2_uc009zlz.3_Missense_Mutation_p.E282K|BIN2_uc001ryh.3_Missense_Mutation_p.E190K|BIN2_uc010sng.2_Missense_Mutation_p.E288K	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	314						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TCTAAGAGCTCCTTGATCTCA	0.517000														66			27		0	0	1	0	0
ADRA1D	146	broad.mit.edu	37	20	4229251	4229251	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:4229251G>A	uc002wkr.2	-	0	409	c.354C>T	c.(352-354)atC>atT	p.I118I		NM_000678	NP_000669	P25100	ADA1D_HUMAN	Homo sapiens adrenergic, alpha-1D-, receptor (ADRA1D), mRNA.	118					DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CCACTGAGAGGATGACAAGCA	0.652000														32			7		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90167845	90167845	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90167845C>T	uc002boe.3	+	19	4304	c.4304C>T	c.(4303-4305)cCt>cTt	p.P1435L	C15orf42_uc021sug.1_Missense_Mutation_p.P1434L	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1435					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CAGTCTCCTCCTGAAAGACGG	0.582000														82			67		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28714584	28714584	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28714584G>A	uc002kwn.3	-	11	2089	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	DSC1_uc002kwm.3_Silent_p.F609F	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	609	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TATCCAGAAAGAATTGAAAAG	0.353000														26			5		0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143310846	143310846	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:143310846C>T	uc003ywj.3	-	11	1583	c.1544G>A	c.(1543-1545)tGa>tAa	p.*515*	TSNARE1_uc011lju.2_Silent_p.*513*|TSNARE1_uc003ywk.3_Silent_p.*514*	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	0					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGGGTAGCATCACTTTCGGAC	0.517000														46			16		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160109728	160109728	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160109728C>T	uc001fvc.3	+	21	3120	c.2988C>T	c.(2986-2988)ttC>ttT	p.F996F	ATP1A2_uc001fvd.3_Silent_p.F715F	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	996					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCTCATCTTCATCTATGATG	0.577000														124			33		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118506066	118506066	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:118506066C>T	uc010jcl.1	+	23	5761	c.5580C>T	c.(5578-5580)acC>acT	p.T1860T	DMXL1_uc003ksd.2_Silent_p.T1860T|DMXL1_uc021ycw.1_Silent_p.T1687T	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1860										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TATTTTTTACCACTGCCAGTG	0.368000														41			11		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117977565	117977565	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117977565G>A	uc001two.2	-	9	1614	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	549	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.S581F(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACTGTGGGGAAGGGTGTAG	0.642000														34			7		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949435	89949435	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89949435G>A	uc003kju.3	+	19	4140	c.4044G>A	c.(4042-4044)agG>agA	p.R1348R	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1348					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATCCCTCCAGGAATAATACAA	0.448000														18			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057787	9057787	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9057787C>T	uc002mkp.3	-	2	29863	c.29659G>A	c.(29659-29661)Gag>Aag	p.E9887K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9889	Ser-rich.|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						GAGGTGGTCTCTTCAGAGGTG	0.453000														71			35		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139216447	139216447	+	Silent	SNP	C	T	T	rs143306197		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:139216447C>T	uc003leu.1	+	9	1660	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	485					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.F485F(2)		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)			ATGACAAGTTCGGGACAGGCA	0.607000														71			36		0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	888594	888594	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:888594G>A	uc009vjq.3	-	8	1022	c.963C>T	c.(961-963)tgC>tgT	p.C321C	NOC2L_uc001aby.4_Silent_p.C118C|NOC2L_uc001abz.4_Silent_p.C321C	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	321						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCTTGTGCCGGCAGACTCTGC	0.582000														43			4		0	0	1	0	0
SERPINA13	388007	broad.mit.edu	37	14	95108164	95108164	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:95108164G>A	uc001ydt.3	+	1	769	c.681G>A	c.(679-681)ggG>ggA	p.G227G						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						AGACCCAGGGGAAGCTCGGGG	0.592000														137			44		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83411176	83411176	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:83411176G>A	uc004eej.2	-	2	201	c.165C>T	c.(163-165)atC>atT	p.I55I	RPS6KA6_uc011mqt.2_Silent_p.I55I|RPS6KA6_uc011mqu.2_5'UTR|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	55					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GAGTAATAGGGATTTCTTTAA	0.363000														11			8		0	0	1	0	0
NECAB3	63941	broad.mit.edu	37	20	32258570	32258570	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:32258570G>A	uc002wzn.4	-	2	289	c.183C>T	c.(181-183)ttC>ttT	p.F61F	NECAB3_uc002wzm.4_Silent_p.F61F|NECAB3_uc002wzo.4_Non-coding_Transcript	NM_031232	NP_112509	Q96P71	NECA3_HUMAN	Homo sapiens N-terminal EF-hand calcium binding protein 3 (NECAB3), transcript variant 2, mRNA.	61	EF-hand.				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	Golgi cis cisterna|endoplasmic reticulum membrane|nucleus	calcium ion binding|oxidoreductase activity|protein binding			large_intestine(3)|lung(5)|skin(2)	10						AGTAATTCTGGAATTCCTCAA	0.592000														40			13		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87041247	87041247	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87041247G>A	uc003uiv.1	-	22	2962	c.2886C>T	c.(2884-2886)ctC>ctT	p.L962L	ABCB4_uc003uiw.1_Silent_p.L962L|ABCB4_uc003uix.1_Intron	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	962	ABC transmembrane type-1 2.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CATTCACAATGAGATATGCAC	0.323000														55			22		0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56388240	56388240	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:56388240G>A	uc010bfn.3	-	8	1686	c.1686C>T	c.(1684-1686)ccC>ccT	p.P562P	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Silent_p.P376P	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	465					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TAGGTGTCTGGGGAGCTTTAG	0.473000														16			6		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2795344	2795344	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2795344C>T	uc009zdu.1	+	47	6255	c.5942C>T	c.(5941-5943)tCc>tTc	p.S1981F	CACNA1C_uc001qkc.2_Missense_Mutation_p.S1917F|CACNA1C_uc001qjz.2_Missense_Mutation_p.S1898F|CACNA1C_uc001qkd.2_Missense_Mutation_p.S1917F|CACNA1C_uc001qke.2_Missense_Mutation_p.S1887F|CACNA1C_uc001qkf.2_Missense_Mutation_p.S1906F|CACNA1C_uc009zdw.1_Missense_Mutation_p.S1939F|CACNA1C_uc001qkg.2_Missense_Mutation_p.S1904F|CACNA1C_uc001qkh.2_Missense_Mutation_p.S1906F|CACNA1C_uc001qkl.2_Missense_Mutation_p.S1946F|CACNA1C_uc001qkj.2_Missense_Mutation_p.S1933F|CACNA1C_uc001qkk.2_Missense_Mutation_p.S1898F|CACNA1C_uc001qkn.2_Missense_Mutation_p.S1898F|CACNA1C_uc001qkm.2_Missense_Mutation_p.S1958F|CACNA1C_uc001qko.2_Missense_Mutation_p.S1918F|CACNA1C_uc001qkp.2_Missense_Mutation_p.S1898F|CACNA1C_uc001qkq.2_Missense_Mutation_p.S1926F|CACNA1C_uc001qku.2_Missense_Mutation_p.S1933F|CACNA1C_uc001qkr.2_Missense_Mutation_p.S1915F|CACNA1C_uc001qks.2_Missense_Mutation_p.S1898F|CACNA1C_uc001qkt.2_Missense_Mutation_p.S1917F|CACNA1C_uc009zdv.1_Missense_Mutation_p.S1895F|CACNA1C_uc001qkb.2_Missense_Mutation_p.S1898F|CACNA1C_uc001qki.1_Missense_Mutation_p.S1705F|CACNA1C_uc010sea.1_Missense_Mutation_p.S589F|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.S216F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1981					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGAAGGGCCTCCTTCCACCTG	0.582000														87			36		0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134256361	134256361	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:134256361G>A	uc011kpr.2	+	5	740	c.441G>A	c.(439-441)ggG>ggA	p.G147G		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	147							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TACAGACTGGGGATGACTTTT	0.418000														106			10		0	0	1	0	0
SLC35G1	159371	broad.mit.edu	37	10	95660749	95660749	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95660749C>T	uc001kjg.2	+	2	661	c.600C>T	c.(598-600)atC>atT	p.I200I	SLC35G1_uc001kji.3_Intron|SLC35G1_uc001kjf.2_Silent_p.I199I|SLC35G1_uc010qnw.2_Silent_p.I183I|SLC35G1_uc001kjj.3_Intron	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN	Homo sapiens solute carrier family 35, member G1 (SLC35G1), transcript variant 1, mRNA.	200	DUF6 1.					integral to membrane											TGATCCTTATCGTGAGACCAC	0.448000														54			22		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73567066	73567066	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73567066C>T	uc002joh.3	+	16	2215	c.2061C>T	c.(2059-2061)ggC>ggT	p.G687G	LLGL2_uc002joi.3_Silent_p.G687G|LLGL2_uc010dgg.2_Silent_p.G687G|LLGL2_uc002joj.3_Silent_p.G676G|LLGL2_uc010wsd.2_Silent_p.G314G	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	687					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGCGGCCAGGCCTCCAGAACA	0.642000														92			33		0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761363	55761363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55761363C>T	uc010riv.2	-	0	739	c.739G>A	c.(739-741)Gcc>Acc	p.A247T		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A247S(2)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGAATTATGGCTGTCAGGTGA	0.493000														81			12		0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158368777	158368777	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158368777G>A	uc010pih.2	-	0	480	c.480C>T	c.(478-480)gcC>gcT	p.A160A		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TGAGGTTGGTGGCCACCAAAG	0.473000														94			41		0	0	1	0	0
JMJD6	23210	broad.mit.edu	37	17	74720088	74720088	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74720088G>A	uc002jso.3	-	2	895	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	JMJD6_uc002jsn.1_Silent_p.L191L|METTL23_uc021udk.1_5'Flank|METTL23_uc002jsr.3_5'Flank|METTL23_uc021udl.1_5'Flank|METTL23_uc021udm.1_5'Flank|METTL23_uc002jst.3_5'Flank|METTL23_uc021udn.1_5'Flank|METTL23_uc002jsu.3_5'Flank	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	Homo sapiens jumonji domain containing 6 (JMJD6), transcript variant 2, mRNA.	191	JmjC.				RNA splicing|mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CTGGTTCCCAGAGGGTCGATG	0.527000														115			34		0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483453	32483453	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:32483453G>A	uc002hhu.3	-	0	373	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	33					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCCCATACACGAAGATGTGGC	0.612000														16			11		0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35043180	35043180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35043180G>A	uc003zvw.3	+	1	583	c.554G>A	c.(553-555)gGg>gAg	p.G185E	C9orf131_uc003zvu.3_Missense_Mutation_p.G137E|C9orf131_uc003zvv.3_Missense_Mutation_p.G112E|C9orf131_uc003zvx.3_Missense_Mutation_p.G150E	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	185										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ATAGCATCAGGGAACCGCCAG	0.567000														99			39		0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154296247	154296247	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154296247C>T	uc001feu.3	+	4	712	c.672C>T	c.(670-672)ttC>ttT	p.F224F	ATP8B2_uc001few.3_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	224					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.F224F(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACGTCTCTTCACCTACGTGG	0.627000														48			13		0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73522254	73522254	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:73522254C>T	uc003uaa.2	+	8	1333	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Silent_p.F339F|LIMK1_uc003uac.1_Silent_p.F165F	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	373	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	p.F373F(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				TGATCCGGTTCGACGAGGAGA	0.582000														4			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049182	9049182	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9049182C>T	uc002mkp.3	-	4	32653	c.32449G>A	c.(32449-32451)Gaa>Aaa	p.E10817K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10819	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						GTAGCTGGTTCACCAGGGGAG	0.483000														123			61		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1893043	1893043	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1893043C>T	uc002qxe.3	-	15	3317	c.2490G>A	c.(2488-2490)agG>agA	p.R830R	MYT1L_uc002qxd.3_Silent_p.R828R|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	830					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R829R(1)|p.R830G(1)|p.R829W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCTCGTCTATCCTCCGGGGTT	0.537000														72			24		0	0	1	0	0
PTPN7	5778	broad.mit.edu	37	1	202128409	202128409	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:202128409C>T	uc001gxn.2	-	2	1218	c.122_splice	c.e2+1	p.R41_splice	PTPN7_uc001gxl.2_Splice_Site_p.R80_splice|PTPN7_uc001gxm.2_Splice_Site_p.R146_splice|PTPN7_uc010ppx.2_Splice_Site_p.R115_splice|PTPN7_uc010ppw.2_Splice_Site_p.E7_splice|PTPN7_uc010ppy.2_Splice_Site|PTPN7_uc001gxo.1_5'Flank	NM_002832	NP_002823	P35236	PTN7_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 7 (PTPN7), transcript variant 1, mRNA.	41	Interaction with MAP kinases.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						AAGATCTCACCTCTCCTGCAG	0.627000														41			6		0	0	1	0	0
KIAA0528	9847	broad.mit.edu	37	12	22624383	22624383	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:22624383G>A	uc010sit.2	-	20	2542	c.2314C>T	c.(2314-2316)Ctt>Ttt	p.L772F	KIAA0528_uc010sir.2_Missense_Mutation_p.L585F|KIAA0528_uc010sis.2_Missense_Mutation_p.L770F|KIAA0528_uc001rfq.3_Missense_Mutation_p.L770F|KIAA0528_uc010siu.2_Missense_Mutation_p.L770F|KIAA0528_uc001rfr.3_Missense_Mutation_p.L761F	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	Homo sapiens KIAA0528 (KIAA0528), mRNA.	770							protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACATGGCAAAGGCAGCAGGGG	0.284000														69			38		0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123485474	123485474	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123485474T>A	uc001pyw.2	+	16	2170	c.1841T>A	c.(1840-1842)aTc>aAc	p.I614N	GRAMD1B_uc001pyx.2_Missense_Mutation_p.I607N|GRAMD1B_uc010rzw.2_Missense_Mutation_p.I567N|GRAMD1B_uc010rzx.1_Missense_Mutation_p.I567N|GRAMD1B_uc001pyy.2_Missense_Mutation_p.I298N	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	607						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		ACGCGGCATATCCCGGAGGAC	0.547000														25			9		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283101	5283101	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:5283101G>A	uc010zqw.2	-	1	748	c.740C>T	c.(739-741)tCc>tTc	p.S247F	PROKR2_uc010zqx.2_Missense_Mutation_p.S247F|PROKR2_uc010zqy.2_Missense_Mutation_p.S247F	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	247						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAGCTCCCGGGAGATCCTGGC	0.582000										HNSCC(71;0.22)				60			25		0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74625129	74625129	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74625129C>T	uc002jsh.3	-	1	970	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	ST6GALNAC1_uc002jsi.3_Missense_Mutation_p.E134K|ST6GALNAC1_uc002jsj.3_Non-coding_Transcript	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA.	266					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CTGTATTTTTCCTCAAAATCC	0.577000														99			48		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29142344	29142344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29142344G>A	uc011dlm.2	+	0	1034	c.932G>A	c.(931-933)gGg>gAg	p.G311E		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	311					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						TGGGAGTGGGGGAAGTGACAG	0.423000														45			24		0	0	1	0	0
TCRBV5S2	0	broad.mit.edu	37	7	142131446	142131446	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142131446C>T	uc010lnz.1	-	1	353	c.309G>A	c.(307-309)ggG>ggA	p.G103G	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRBV5S2_uc022ang.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GGGCCGAGTCCCCCAGCAACA	0.517000														81			37		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82834819	82834820	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:82834819_82834820CC>TT	uc003kii.3	+	7	6353_6354	c.5997_5998CC>TT	c.(5995-6000)ttcccc>ttTTcc	p.P2000S	VCAN_uc003kij.3_Missense_Mutation_p.P1013S|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P664S	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2000	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTTCAGCCTTCCCCTGGGAAGA	0.510000														54			22		0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42351874	42351874	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42351874C>T	uc010xwe.2	+	2	378	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	DMRTC2_uc002orr.1_5'UTR|DMRTC2_uc002ors.3_Silent_p.L99L	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	99					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						AAAGAAGCACCTGATGAGGAG	0.597000														10			6		0	0	1	0	0
CSH2	1443	broad.mit.edu	37	17	61949998	61949998	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61949998G>A	uc002jch.3	-	3	510	c.395C>T	c.(394-396)tCg>tTg	p.S132L	CSH2_uc002jci.3_Missense_Mutation_p.S132L|CSH2_uc002jcg.3_Intron	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	132					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						ATCGCTGTCCGAGGTGTCATA	0.597000														64			29		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108754254	108754254	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108754254C>T	uc003dxl.3	-	14	1479	c.1392G>A	c.(1390-1392)gaG>gaA	p.E464E	MORC1_uc011bhn.2_Silent_p.E464E	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	464					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTAAAGGTTTCTCCACATCGA	0.299000														54			8		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373565	126373565	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126373565G>A	uc003ifj.4	+	8	11394	c.11394G>A	c.(11392-11394)gtG>gtA	p.V3798V	FAT4_uc011cgp.2_Silent_p.V2096V|FAT4_uc003ifi.1_Silent_p.V1276V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3798					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V3798A(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGTAAAGGTGGAATCTGTGG	0.483000														54			11		0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068338	5068338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5068338C>T	uc010qyv.2	+	0	583	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TGGAAACATTCGTATCAATGG	0.438000														113			40		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57257937	57257937	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57257937C>T	uc001cym.4	-	1	955	c.549G>A	c.(547-549)agG>agA	p.R183R	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Silent_p.R183R	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	183										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCAGCTTTTTCCTGGGTTCCT	0.478000														113			35		0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54965696	54965696	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54965696C>T	uc002qfv.1	+	4	547	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	LENG8_uc002qfw.2_Missense_Mutation_p.P172S			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	135							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GCCCTCAAATCCCCCACATGG	0.682000														23			21		0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21689975	21689975	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:21689975C>T	uc002wsj.2	+	3	1229	c.1175C>T	c.(1174-1176)cCg>cTg	p.P392L	PAX1_uc010zsl.2_Missense_Mutation_p.P392L|PAX1_uc010zsm.2_Missense_Mutation_p.P368L	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	392					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCGGGCCCGCCGTGGCCGCCT	0.746000														10			31		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26222391	26222391	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26222391G>A	uc003abz.1	+	13	2961	c.2711G>A	c.(2710-2712)gGa>gAa	p.G904E	MYO18B_uc003aca.1_Missense_Mutation_p.G785E|MYO18B_uc010guy.1_Missense_Mutation_p.G785E|MYO18B_uc010guz.1_Missense_Mutation_p.G785E|MYO18B_uc011aka.1_Missense_Mutation_p.G58E|MYO18B_uc011akb.1_Missense_Mutation_p.G417E	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	904	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						AAGATGACAGGAGTGGACTGT	0.562000														83			29		0	0	1	0	0
WDR85	92715	broad.mit.edu	37	9	140468793	140468793	+	Silent	SNP	G	A	A	rs140349182	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140468793G>A	uc004cnk.1	-	4	665	c.507C>T	c.(505-507)tcC>tcT	p.S169S	WDR85_uc004cnm.1_5'UTR|WDR85_uc022bqk.1_Non-coding_Transcript	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	Homo sapiens WD repeat domain 85 (WDR85), mRNA.	169					peptidyl-diphthamide biosynthetic process from peptidyl-histidine			p.D168N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	8	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)		GCTGCCCTGTGGAGTCACTGC	0.567000														109			9		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158244	139158244	+	Silent	SNP	G	A	A	rs148245905		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:139158244G>A	uc003yuy.3	-	14	3669	c.3498C>T	c.(3496-3498)ctC>ctT	p.L1166L	FAM135B_uc003yux.3_Silent_p.L1067L|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.L728L|FAM135B_uc003yvb.3_Missense_Mutation_p.P694S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1166								p.L1166L(3)		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)			TTCCTCCAGGGAGCCCCAGTT	0.438000										HNSCC(54;0.14)				76			33		0	0	1	0	0
RFX1	5989	broad.mit.edu	37	19	14094343	14094343	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:14094343G>A	uc002mxv.3	-	2	656	c.384C>T	c.(382-384)acC>acT	p.T128T	RFX1_uc010dzi.2_Silent_p.T128T	NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	128					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TAGGAACGCCGGTCTGGCTGG	0.701000														14			5		0	0	1	0	0
RASL10B	91608	broad.mit.edu	37	17	34067503	34067503	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:34067503G>A	uc002hju.3	+	2	658	c.292G>A	c.(292-294)Gac>Aac	p.D98N		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	Homo sapiens RAS-like, family 10, member B (RASL10B), mRNA.	98	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGCTGCTTTGACAGCTTTGA	0.582000														57			33		0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122759917	122759917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:122759917G>A	uc004etu.3	-	24	2935	c.2903C>T	c.(2902-2904)tCt>tTt	p.S968F	THOC2_uc004etw.1_5'Flank|Mir_584_uc022cdq.1_5'Flank	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	968					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						ATTTTTGGTAGATTCTAAAAA	0.333000														10			12		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7110373	7110373	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7110373G>A	uc001mfc.2	+	0	209	c.22G>A	c.(22-24)Ggg>Agg	p.G8R		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	8	RRM.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGATCGCCCGGGGAAGCTGTT	0.632000														31			7		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17794534	17794534	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:17794534G>A	uc003ncg.4	-	24	3328	c.3168C>T	c.(3166-3168)atC>atT	p.I1056I	KIF13A_uc003ncf.3_Silent_p.I1056I|KIF13A_uc003nch.4_Silent_p.I1056I|KIF13A_uc003nci.4_Silent_p.I1056I	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1056					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTACACAGCCGATGGATACTG	0.468000														92			38		0	0	1	0	0
C5orf46	389336	broad.mit.edu	37	5	147281256	147281256	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:147281256G>A	uc010jgp.3	-	1	188	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	C5orf46_uc003lou.3_Missense_Mutation_p.L51F|C5orf46_uc003lov.4_Missense_Mutation_p.L51F	NM_206966	NP_996849	Q6UWT4	CE046_HUMAN	Homo sapiens chromosome 5 open reading frame 46 (C5orf46), mRNA.	51						extracellular region				NS(1)|lung(1)|prostate(1)	3						GTGCCCAGGAGGCTTAGGAAT	0.493000														58			10		0	0	1	0	0
HTRA3	94031	broad.mit.edu	37	4	8307825	8307825	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:8307825G>A	uc003gla.3	+	8	1531	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N		NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	442	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GGGGAACGACGACCTCCTCTT	0.657000														43			9		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139909534	139909534	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139909534G>A	uc004ckm.1	-	24	3850	c.3800C>T	c.(3799-3801)tCc>tTc	p.S1267F	ABCA2_uc022bpy.1_Missense_Mutation_p.S1168F|ABCA2_uc022bpz.1_Missense_Mutation_p.S1238F|ABCA2_uc011mem.1_Missense_Mutation_p.S1237F|ABCA2_uc004ckl.1_Missense_Mutation_p.S1168F|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1237					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGGGGGGCTGGATGCCAGCCC	0.642000														31			16		0	0	1	0	0
C14orf166	51637	broad.mit.edu	37	14	52460467	52460467	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:52460467C>T	uc010aod.3	+	2	343	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_016039	NP_057123	Q9Y224	CN166_HUMAN	Homo sapiens chromosome 14 open reading frame 166 (C14orf166), mRNA.	71						microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding			endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					ACTGTCCTTTCAAGATTCAAG	0.373000														62			20		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032513	21032513	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21032513C>T	uc010sil.2	+	8	1344	c.1279C>T	c.(1279-1281)Cct>Tct	p.P427S	SLCO1B3_uc001rek.3_Missense_Mutation_p.P427S|SLCO1B3_uc001rel.3_Missense_Mutation_p.P427S|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	427					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)					TCTATATTTCCCTCTAATCTG	0.308000														54			22		0	0	1	0	0
BEND6	221336	broad.mit.edu	37	6	56857310	56857310	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:56857310G>A	uc010kab.3	+	2	841	c.255G>A	c.(253-255)cgG>cgA	p.R85R	BEND6_uc003pdg.2_Non-coding_Transcript	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	Homo sapiens BEN domain containing 6 (BEND6), mRNA.	85								p.R85R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CAAACACCCGGAAAGAAAACA	0.383000														190			32		0	0	1	0	0
EVX2	344191	broad.mit.edu	37	2	176947013	176947013	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:176947013C>T	uc010zeu.2	-	1	778	c.592G>A	c.(592-594)Gag>Aag	p.E198K		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	198						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GCGATCTGCTCGCGGGTGAAC	0.711000														19			4		0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48133933	48133933	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48133933C>T	uc001rpz.4	-	22	2914	c.2364G>A	c.(2362-2364)gaG>gaA	p.E788E	AL831948_uc001rpv.3_Non-coding_Transcript|RAPGEF3_uc001rpw.3_Silent_p.E81E|RAPGEF3_uc001rpx.3_Silent_p.E203E|RAPGEF3_uc010sln.2_Silent_p.E243E|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Silent_p.E746E|RAPGEF3_uc009zkq.3_Silent_p.E746E	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	746					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CCAGCAGCCTCTCGAGGGCGG	0.657000														15			3		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052277	90052277	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:90052277C>T	uc003kju.3	+	55	11683	c.11587C>T	c.(11587-11589)Ctt>Ttt	p.L3863F	GPR98_uc003kjt.3_Missense_Mutation_p.L1569F|GPR98_uc003kjv.3_Missense_Mutation_p.L1463F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3863	Calx-beta 25.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCAGGATGACCTTCCTGAATT	0.408000														109			44		0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75898440	75898440	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:75898440G>A	uc001vjl.1	-	10	2478	c.2131C>T	c.(2131-2133)Ccc>Tcc	p.P711S	TBC1D4_uc010aer.2_Missense_Mutation_p.P711S|TBC1D4_uc010aes.2_Intron	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	711	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGGAAAGAGGGGGCAGTGAAG	0.453000														76			23		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132471079	132471079	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:132471079C>T	uc001ujn.3	+	5	2102	c.1950C>T	c.(1948-1950)ctC>ctT	p.L650L	EP400_uc021rgq.1_Silent_p.L649L|EP400_uc001ujm.3_Silent_p.L650L|EP400_uc001ujj.2_Silent_p.L613L|EP400_uc001ujk.3_Silent_p.L686L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	686					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CGACAAGGCTCCCTGTGGACC	0.652000														68			43		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72775173	72775173	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:72775173C>T	uc002llw.2	+	7	5549	c.5496C>T	c.(5494-5496)agC>agT	p.S1832S		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1832					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGACAGACAGCCCCTTCACCG	0.622000														166			45		0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49825032	49825033	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:49825032_49825033CC>TT	uc002itv.4	-	4	1179_1180	c.443_444GG>AA	c.(442-444)ggg>gAA	p.G148E	CA10_uc002itw.4_Missense_Mutation_p.G142E|CA10_uc002itx.4_Missense_Mutation_p.G142E|CA10_uc002ity.4_Missense_Mutation_p.G142E|CA10_uc002itz.2_Missense_Mutation_p.G142E	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	142					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GGTGCTCCGACCCTTGGCTGTC	0.510000														131			57		0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139428696	139428696	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:139428696C>T	uc002tvi.3	-	1	591	c.591G>A	c.(589-591)gcG>gcA	p.A197A		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	197	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CGGTCTTTTTCGCCCGATCTG	0.488000														25			13		0	0	1	0	0
MTAP	4507	broad.mit.edu	37	9	21859391	21859391	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21859391C>T	uc003zph.3	+	6	893	c.780C>T	c.(778-780)tcC>tcT	p.S260S	MTAP_uc003zpi.1_Intron|MTAP_uc010mit.3_Non-coding_Transcript|MTAP_uc011lnk.2_Silent_p.S277S|MTAP_uc011lnl.2_Silent_p.S193S	NM_002451	NP_002442	Q13126	MTAP_HUMAN	Homo sapiens methylthioadenosine phosphorylase (MTAP), mRNA.	260					nucleoside metabolic process	cytoplasm	S-methyl-5-thioadenosine phosphorylase activity|phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	AGATAGGGTCCACAGAATGGT	0.443000														32			11		0	0	1	0	0
C7orf34	135927	broad.mit.edu	37	7	142636722	142636722	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142636722C>T	uc003wca.2	+	0	120	c.79C>T	c.(79-81)Cct>Tct	p.P27S		NM_178829	NP_849151	Q96L11	CG034_HUMAN	Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA.	2						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CAGGTCCATGCCTCCCCTGGC	0.657000														51			13		0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735998	158735998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158735998C>T	uc010piq.2	-	0	475	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AAGGAAATTTCAACTACTGGC	0.537000														54			23		0	0	1	0	0
C1orf85	112770	broad.mit.edu	37	1	156264762	156264762	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156264762G>A	uc001foh.3	-	1	179	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	C1orf85_uc001fof.4_5'Flank	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	Homo sapiens chromosome 1 open reading frame 85 (C1orf85), mRNA.	56					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					ATATGAAGCAGGTTCTGCAGG	0.592000														42			6		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227915826	227915826	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:227915826C>T	uc021vxr.1	-	31	3118	c.3017G>A	c.(3016-3018)aGa>aAa	p.R1006K	COL4A4_uc021vxs.1_Missense_Mutation_p.R1006K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1006	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGTCCGTATCTTCCCGGCTC	0.547000														132			36		0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26672006	26672006	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26672006G>A	uc001bmd.4	-	1	1293	c.1143C>T	c.(1141-1143)gcC>gcT	p.A381A		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 8.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GAGTGAGCCGGGCCCCGGGGT	0.642000														54			7		0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110754783	110754783	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110754783C>T	uc009wfr.3	+	0	1448	c.662C>T	c.(661-663)tCc>tTc	p.S221F	KCNC4_uc001dzf.3_Missense_Mutation_p.S221F|KCNC4_uc001dzh.3_Missense_Mutation_p.S221F|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Missense_Mutation_p.S221F	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	221					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GATCCCTACTCCTCCCGGGCC	0.736000														9			5		0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95608714	95608714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:95608714G>A	uc004asu.1	-	4	2504	c.2355C>T	c.(2353-2355)ttC>ttT	p.F785F	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Silent_p.F787F|ZNF484_uc004asv.1_Silent_p.F749F|ZNF484_uc010mrb.1_Silent_p.F749F	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	785					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						ATCTGATGGTGAAGGCCTTTC	0.398000														141			69		0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35467931	35467931	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:35467931C>T	uc021wir.1	+	0	434	c.434C>T	c.(433-435)tCg>tTg	p.S145L	SLC5A3_uc002yto.3_Missense_Mutation_p.S145L|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	145						integral to plasma membrane	myo-inositol:sodium symporter activity	p.S145S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GATCTGTATTCGGGTGCCCTT	0.468000														238			49		0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134369698	134369698	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:134369698C>T	uc010hty.3	-	0	167	c.105G>A	c.(103-105)gcG>gcA	p.A35A	KY_uc011blw.2_Silent_p.A35A|KY_uc011blx.2_Silent_p.A35A|KY_uc003eqs.1_Intron	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	35						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGCTCGGGTTCGCCTGCTGGT	0.672000														20			9		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54783315	54783315	+	Silent	SNP	G	A	A	rs143879306	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54783315G>A	uc002qfb.3	-	4	809	c.543C>T	c.(541-543)ttC>ttT	p.F181F	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.F181F|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.F181F|LILRB2_uc010yet.2_Silent_p.F65F|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	181	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGCCCACGGAGAAGATGGCGC	0.577000														127			23		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32933287	32933287	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:32933287G>A	uc003cff.3	+	3	2654	c.2591G>A	c.(2590-2592)cGa>cAa	p.R864Q		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	864					multicellular organismal development	cytoplasm	zinc ion binding	p.R864Q(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCAACAATCGAATCCTCGTC	0.512000														161			17		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121492935	121492935	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121492935G>A	uc001pxx.3	+	44	6258	c.6129G>A	c.(6127-6129)tgG>tgA	p.W2043*	SORL1_uc010rzp.1_Nonsense_Mutation_p.W889*|SORL1_uc010rzq.1_Nonsense_Mutation_p.W658*	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2043	Fibronectin type-III 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCTGTTTTGGAAAAGCCTGG	0.353000														55			20		0	0	1	0	0
IL20RB	53833	broad.mit.edu	37	3	136728968	136728968	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:136728968C>T	uc003eri.2	+	6	1088	c.839C>T	c.(838-840)tCa>tTa	p.S280L	IL20RB_uc003erj.2_Non-coding_Transcript|IL20RB_uc010hud.2_Missense_Mutation_p.S138L|AX746877_uc003erk.1_5'Flank	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA.	280						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						ATAACCAATTCACCCCAGAAG	0.378000														112			45		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436900	179436900	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179436900C>T	uc021vsy.1	-	274	66480	c.66255G>A	c.(66253-66255)gtG>gtA	p.V22085V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V15780V|TTN_uc021vta.1_Silent_p.V15713V|TTN_uc021vtb.1_Silent_p.V15588V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23012							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)			TCTGCATCTCCACAATGTAGC	0.458000														21			14		0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961398	1961398	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:1961398G>A	uc010gaj.3	-	2	578	c.336C>T	c.(334-336)ctC>ctT	p.L112L	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Silent_p.L112L|PDYN_uc021vzt.1_Silent_p.L112L|PDYN_uc021vzu.1_Silent_p.L112L|PDYN_uc002wfv.3_Silent_p.L112L	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	112					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						AGATACTTGGGAGAAACTTGC	0.552000														72			38		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130789705	130789705	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:130789705C>T	uc003ysr.3	-	1	1011	c.129G>A	c.(127-129)aaG>aaA	p.K43K		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	43						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AACGAGAATCCTTCTTCTTTC	0.393000														85			40		0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56763866	56763866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:56763866C>T	uc001xch.3	+	5	1531	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	415					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						AATTAATTTTCCAAGGTCCAA	0.433000														25			4		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241659339	241659339	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241659339G>A	uc010fzk.3	-	45	5120	c.4873C>T	c.(4873-4875)Ccg>Tcg	p.P1625S	KIF1A_uc002vzy.3_Missense_Mutation_p.P1524S|KIF1A_uc002vzw.3_Missense_Mutation_p.P185S|KIF1A_uc002vzx.3_Missense_Mutation_p.P251S	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1524	PH.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CAGGGCTGCGGGGTCCTGGGA	0.682000														24			7		0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71692349	71692349	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:71692349C>T	uc001jql.3	+	29	2220	c.1684C>T	c.(1684-1686)Cca>Tca	p.P562S	COL13A1_uc021prz.1_Intron|COL13A1_uc021psa.1_Intron|COL13A1_uc021psb.1_Intron|COL13A1_uc001jqk.2_Missense_Mutation_p.P540S|COL13A1_uc021psc.1_Missense_Mutation_p.P543S|COL13A1_uc021psd.1_Intron|COL13A1_uc010qjf.2_Intron|COL13A1_uc021pse.1_Intron|COL13A1_uc021psf.1_Missense_Mutation_p.P562S|COL13A1_uc021psg.1_Missense_Mutation_p.P540S|COL13A1_uc021psh.1_Missense_Mutation_p.P543S	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	562	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GAAGGGCAATCCAGGAGCAGA	0.507000														23			6		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186673597	186673597	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:186673597G>A	uc002upl.3	+	16	19831	c.19831G>A	c.(19831-19833)Gtt>Att	p.V6611I	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATTAAAATAGTTCCACATGT	0.303000														67			10		0	0	1	0	0
KLRC4	8302	broad.mit.edu	37	12	10560278	10560278	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10560278G>A	uc001qye.3	-	3	633	c.451C>T	c.(451-453)Cga>Tga	p.R151*	KLRK1_uc001qyc.3_5'UTR|KLRK1_uc009zhk.3_5'UTR|KLRK1_uc001qyd.3_5'UTR	NM_013431	NP_038459	O43908	NKG2F_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 4 (KLRC4), mRNA.	151					cellular defense response	integral to membrane	binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						AGAGTTCTTCGAAGCACAGGC	0.363000														215			92		0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114823558	114823558	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:114823558C>T	uc003ibq.1	-	1	2560	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	ARSJ_uc010imu.1_Missense_Mutation_p.E558K|ARSJ_uc010imv.1_Missense_Mutation_p.E386K	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	558						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		ttcttggtttcctcttTATAC	0.448000														25			11		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83195246	83195246	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:83195246C>T	uc001paj.2	-	16	2207	c.1904G>A	c.(1903-1905)aGc>aAc	p.S635N	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Intron|DLG2_uc021qof.1_Missense_Mutation_p.S674N|DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Missense_Mutation_p.S740N|DLG2_uc010rtb.1_Missense_Mutation_p.S602N|DLG2_uc010rsx.1_Intron|DLG2_uc010rsw.1_Intron	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	635						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AAAGATGAAGCTCTTTTTACG	0.413000														97			30		0	0	1	0	0
RAB20	55647	broad.mit.edu	37	13	111176459	111176459	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:111176459C>T	uc001vqy.3	-	1	463	c.258G>A	c.(256-258)caG>caA	p.Q86Q		NM_017817	NP_060287	Q9NX57	RAB20_HUMAN	Homo sapiens RAB20, member RAS oncogene family (RAB20), mRNA.	86					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CCACCAGGCTCTGCCGGTGAT	0.627000														67			15		0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92826581	92826581	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92826581C>T	uc011khy.2	-	7	1266	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	HEPACAM2_uc003uml.3_Missense_Mutation_p.E380K|HEPACAM2_uc010lff.3_Silent_p.Q371Q|HEPACAM2_uc003umm.3_Missense_Mutation_p.E392K	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	392						integral to membrane		p.P415S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTCCTGTATTCTGTTTCTGGC	0.303000														52			22		0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18181530	18181530	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:18181530G>A	uc002gsx.1	-	17	2515	c.2286C>T	c.(2284-2286)ccC>ccT	p.P762P	TOP3A_uc010cpz.1_Silent_p.P214P|TOP3A_uc010vxr.1_Silent_p.P292P|TOP3A_uc002gsw.1_Silent_p.P214P|TOP3A_uc010vxs.1_Silent_p.P660P	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	762					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GGCGGCCAGAGGGCTGGCTAG	0.627000														49			31		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16256942	16256942	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16256942C>T	uc001axk.1	+	10	4411	c.4207C>T	c.(4207-4209)Cga>Tga	p.R1403*	SPEN_uc010obp.1_Nonsense_Mutation_p.R1362*	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1403					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)		TGAAAGTTCTCGATTGTCTTT	0.418000														65			35		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088494	94088494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94088494C>T	uc001ybv.1	+	27	4533	c.4450C>T	c.(4450-4452)Cct>Tct	p.P1484S	UNC79_uc001ybs.1_Missense_Mutation_p.P1462S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1639						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						GCCTCTTCCCCCTCTCAGAAT	0.517000														113			35		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538757	55538757	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55538757G>A	uc003xsd.1	+	3	2463	c.2315G>A	c.(2314-2316)gGa>gAa	p.G772E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	772					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGGTTCAAGGACTTTTAACC	0.294000														46			6		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139277969	139277969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:139277969G>A	uc003yuy.3	-	3	445	c.274C>T	c.(274-276)Cat>Tat	p.H92Y	FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	92										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)			AAGAGTAAATGAACTCGGAAG	0.473000										HNSCC(54;0.14)				70			28		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42693486	42693486	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42693486C>T	uc010ggo.3	+	5	989	c.949C>T	c.(949-951)Ctc>Ttc	p.L317F	TOX2_uc002xle.4_Missense_Mutation_p.L275F|TOX2_uc010ggp.3_Missense_Mutation_p.L275F|TOX2_uc002xlf.4_Intron|TOX2_uc010zwk.2_Missense_Mutation_p.L195F	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P316P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCGGGCTAGCCTCGTCTCCAA	0.582000														92			37		0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274634	29274634	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29274634C>T	uc011dln.2	+	0	168	c.168C>T	c.(166-168)ccC>ccT	p.P56P		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TCCATTCCCCCATGTATTACT	0.468000														173			50		0	0	1	0	0
PRPF31	26121	broad.mit.edu	37	19	54626875	54626875	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54626875C>T	uc002qdh.2	+	5	859	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	PRPF31_uc010yek.1_Silent_p.L155L|PRPF31_uc021vbi.1_Silent_p.L155L	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	155					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP|nuclear speck	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAATGAGAACCTGCAGCAGAT	0.612000														106			33		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10222305	10222305	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10222305C>T	uc002gmk.1	-	26	3630	c.3540G>A	c.(3538-3540)agG>agA	p.R1180R		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1180					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTCCAGGTCCCTGCGCATTT	0.582000														77			94		0	0	1	0	0
DUPD1	338599	broad.mit.edu	37	10	76797674	76797674	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:76797674C>T	uc001jwq.1	-	2	583	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	Homo sapiens dual specificity phosphatase and pro isomerase domain containing 1 (DUPD1), mRNA.	195	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTGTCCAGCTCCCGGAGCTGC	0.647000														56			36		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25890625	25890625	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:25890625G>A	uc003xes.2	-	5	792	c.527C>T	c.(526-528)cCa>cTa	p.P176L	DOCK5_uc003xek.3_Intron|EBF2_uc003xet.2_Missense_Mutation_p.P176L	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	176					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGGGTCCGATGGAGTCTCATT	0.388000														120			8		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70951717	70951717	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:70951717G>A	uc003pfg.4	-	29	2107	c.1948C>T	c.(1948-1950)Ctc>Ttc	p.L650F	COL9A1_uc003pfe.4_Intron|COL9A1_uc003pff.4_Missense_Mutation_p.L407F	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	650	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AAGCCAGGGAGGCCAGGGCTA	0.532000														9			6		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19339423	19339423	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19339423C>T	uc002nlz.3	+	7	3093	c.2994C>T	c.(2992-2994)acC>acT	p.T998T	NCAN_uc010ecc.1_Silent_p.T562T	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	998					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TGCCAGGGACCCCTATGAATG	0.642000														54			15		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	12989982	12989982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:12989982G>A	uc002wod.1	+	0	356	c.67G>A	c.(67-69)Ggc>Agc	p.G23S	SPTLC3_uc002woc.3_Missense_Mutation_p.G23S	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	23					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	ACAGAGCAATGGCTCACAAAG	0.483000														85			17		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228479639	228479639	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228479639G>A	uc009xez.1	+	38	10424	c.10380G>A	c.(10378-10380)gaG>gaA	p.E3460E	OBSCN_uc001hsn.3_Silent_p.E3460E|OBSCN_uc001hsq.1_Silent_p.E716E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3460	Ig-like 35.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAATGAAGAGGCCGTGGAAG	0.587000														32			14		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39884771	39884771	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:39884771G>A	uc001zkh.3	+	16	2714	c.2535G>A	c.(2533-2535)ctG>ctA	p.L845L	THBS1_uc010bbi.3_Silent_p.L317L	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	845					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCTTTCAGCTGGACTCTGACT	0.433000														13			5		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163302789	163302789	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:163302789G>A	uc002uch.2	-	6	1522	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	KCNH7_uc002uci.3_Silent_p.F424F	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	431					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CATTGAGGAGGAAGGCTGCAG	0.423000														64			24		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38743715	38743715	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38743715C>T	uc021yzh.1	+	12	2059	c.1950C>T	c.(1948-1950)atC>atT	p.I650I	DNAH8_uc003ooe.2_Silent_p.I433I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGACAAAAATCAATGGTTTAG	0.308000														117			46		0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39883338	39883338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39883338C>T	uc002hxm.1	-	9	1502	c.1490G>A	c.(1489-1491)aGg>aAg	p.R497K	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.R445K|HAP1_uc002hxo.1_Missense_Mutation_p.R428K|HAP1_uc002hxp.1_Missense_Mutation_p.R420K	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	497	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGAGATCATCCTCCTTAGAGA	0.572000														7			6		0	0	1	0	0
SPATA8	145946	broad.mit.edu	37	15	97327486	97327486	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:97327486G>A	uc002bue.3	+	1	400	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	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.	65										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)			GCCTGCAAAGGAAGGTAAGTA	0.577000														76			15		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143104721	143104721	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143104721C>T	uc003wcz.3	-	1	220	c.133G>A	c.(133-135)Gat>Aat	p.D45N	LOC285965_uc003wda.3_5'Flank	NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	45						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTTGGGGGATCCAGCAGCCAG	0.562000														368			34		0	0	1	0	0
DTWD2	285605	broad.mit.edu	37	5	118176751	118176751	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:118176751G>A	uc003ksa.3	-	5	792	c.758C>T	c.(757-759)tCc>tTc	p.S253F		NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN	Homo sapiens DTW domain containing 2 (DTWD2), mRNA.	253										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		AAGTTGAAAGGAGCATAAAGC	0.373000														19			9		0	0	1	0	0
FKBP3	2287	broad.mit.edu	37	14	45603624	45603624	+	Silent	SNP	C	T	T	rs28366026		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:45603624C>T	uc010tqf.2	-	0	386	c.36G>A	c.(34-36)gtG>gtA	p.V12V	FANCM_uc001wwc.2_5'Flank|FANCM_uc001wwd.4_5'Flank|FANCM_uc010anf.3_5'Flank	NM_002013	NP_002004	Q00688	FKBP3_HUMAN	Homo sapiens FK506 binding protein 3, 25kDa (FKBP3), mRNA.	12					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						GCAGCTGCTCCACGGTCCACG	0.662000														79			21		0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22006032	22006032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:22006032G>A	uc003xav.3	-	7	1577	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	LGI3_uc010ltu.3_Missense_Mutation_p.R406C	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	430					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		p.R430G(2)		endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CGGCCGGCACGAAAGTGTTTC	0.632000														24			11		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71348651	71348651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:71348651C>T	uc010dfm.3	-	40	5719	c.5719G>A	c.(5719-5721)Ggt>Agt	p.G1907S	SDK2_uc002jjt.4_Missense_Mutation_p.G1047S	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1907	Fibronectin type-III 13.				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						GTGCCGAAACCATAGTCGTTG	0.637000														21			4		0	0	1	0	0
CSF3	1440	broad.mit.edu	37	17	38172548	38172548	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:38172548C>T	uc002htp.3	+	2	381	c.267C>T	c.(265-267)atC>atT	p.I89I	CSF3_uc002hto.3_Silent_p.I86I|CSF3_uc002htq.3_Silent_p.I82I|CSF3_uc021tww.1_Intron|CSF3_uc021twx.1_Intron|CSF3_uc010wep.2_Intron	NM_000759	NP_000750	P09919	CSF3_HUMAN	Homo sapiens colony stimulating factor 3 (granulocyte) (CSF3), transcript variant 1, mRNA.	89					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTCTGGGCATCCCCTGGGCTC	0.627000														5			5		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10448673	10448673	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10448673G>A	uc010coi.3	-	4	623	c.495C>T	c.(493-495)ttC>ttT	p.F165F	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.F165F|MYH2_uc010coj.3_Silent_p.F165F	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	165	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Q164*(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGTCAGCATGAACTGATAGG	0.527000														183			79		0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45016647	45016647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:45016647G>A	uc003tmh.2	-	1	263	c.119C>T	c.(118-120)aCc>aTc	p.T40I	MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	40	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						ACCGATGTAGGTGTAGATGCG	0.617000														47			37		0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17412148	17412148	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:17412148C>T	uc011kye.2	+	6	1303	c.1255C>T	c.(1255-1257)Caa>Taa	p.Q419*	SLC7A2_uc011kyc.2_Nonsense_Mutation_p.Q379*|SLC7A2_uc011kyd.2_Intron	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	379					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	p.T418T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATGTCTAGCTCAAATCAATTC	0.418000														171			59		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24538596	24538596	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24538596G>A	uc001wlj.2	+	39	4259	c.4102G>A	c.(4102-4104)Gag>Aag	p.E1368K	LRRC16B_uc001wlk.2_Missense_Mutation_p.E421K|CPNE6_uc010tnv.2_5'Flank|CPNE6_uc001wlm.3_5'Flank|CPNE6_uc001wll.3_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	1368										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		AGGAACCAGTGAGCCAGGAAC	0.627000														44			29		0	0	1	0	0
MED26	9441	broad.mit.edu	37	19	16686990	16686990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16686990C>T	uc002nen.1	-	2	1912	c.1651G>A	c.(1651-1653)Gat>Aat	p.D551N	MED26_uc002nee.2_Intron	NM_004831	NP_004822	O95402	MED26_HUMAN	Homo sapiens mediator complex subunit 26 (MED26), mRNA.	551					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CTGTCGAGATCGTCCTGTGTG	0.642000														59			24		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114290925	114290925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:114290925C>T	uc003ynu.3	-	2	569	c.410G>A	c.(409-411)gGa>gAa	p.G137E	CSMD3_uc003ynt.3_Missense_Mutation_p.G97E|CSMD3_uc011lhx.2_Missense_Mutation_p.G137E|CSMD3_uc010mcx.1_Missense_Mutation_p.G137E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	137	CUB 1.					integral to membrane|plasma membrane		p.G137*(1)		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						CAGATGGAATCCTGTTAACCT	0.308000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				67			17		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152782813	152782813	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:152782813G>A	uc021zhb.1	-	18	2536	c.2313C>T	c.(2311-2313)caC>caT	p.H771H	SYNE1_uc003qot.4_Silent_p.H778H|SYNE1_uc003qou.4_Silent_p.H771H|SYNE1_uc010kjb.1_Silent_p.H754H|SYNE1_uc003qow.3_Silent_p.H66H|SYNE1_uc003qox.1_Silent_p.H287H|SYNE1_uc003qoz.2_Silent_p.H203H|SYNE1_uc003qoy.2_Silent_p.H338H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	771					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGTAATGAGGTGTGCTGTCT	0.413000										HNSCC(10;0.0054)				61			46		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76744366	76744366	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:76744366G>A	uc003pik.1	-	2	570	c.440C>T	c.(439-441)tCc>tTc	p.S147F		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	147					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GTGCTCCTGGGAATTGCTGAA	0.527000														56			35		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115079143	115079143	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:115079143G>A	uc001eez.3	-	28		c.4500C>T				NM_198459		Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		AGATCTACGTGGATGATGGGC	0.502000														175			18		0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1497080	1497080	+	Missense_Mutation	SNP	G	A	A	rs140032494		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1497080G>A	uc002clv.2	-	23	2368	c.2258C>T	c.(2257-2259)tCg>tTg	p.S753L	CCDC154_uc010uve.2_5'Flank|CLCN7_uc002clu.2_Missense_Mutation_p.S201L|CLCN7_uc002clw.2_Missense_Mutation_p.S729L	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	753	CBS 2.					integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CCGTGGGAGCGACGCCTCCTG	0.716000														10			5		0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406212	55406213	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55406212_55406213CC>TT	uc010rij.2	+	0	379_380	c.379_380CC>TT	c.(379-381)ccc>TTc	p.P127F		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CATTTGCAAGCCCCTGCACTAC	0.421000														76			22		0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51673920	51673920	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:51673920C>T	uc011bdt.2	+	12	2261	c.2136C>T	c.(2134-2136)taC>taT	p.Y712Y	RAD54L2_uc003dbh.3_Silent_p.Y303Y|RAD54L2_uc011bdu.2_Silent_p.Y406Y|RAD54L2_uc003dbj.3_Silent_p.Y38Y	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	712						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)		TGACTAATTACCAGACTGGAG	0.458000														24			8		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20996782	20996782	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20996782C>T	uc010vbe.2	-	47	7282	c.7282G>A	c.(7282-7284)Ggc>Agc	p.G2428S	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2428	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCAGGTGGCCTTTGTCCTGC	0.542000														33			21		0	0	1	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077054	45077054	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:45077054C>T	uc003cok.4	+	2	343	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L		NM_003278	NP_003269	P05452	TETN_HUMAN	Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA.	83	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAATGCTTTCTGGCCTTCAC	0.627000														36			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107066183	107066183	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:107066183G>A	uc021ser.1	-	144		c.6406C>T								Parts of antibodies, mostly variable regions.																		CCACCAAGAAGAGGATGCTCC	0.572000														43			7		0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7311894	7311894	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7311894C>T	uc002ggt.1	+	0	393	c.320C>T	c.(319-321)cCg>cTg	p.P107L		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	107					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)				CCCGCCTGCCCGCAGAACCTG	0.741000														2			3		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14748569	14748569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14748569G>A	uc003zlm.3	-	31	6442	c.5626C>T	c.(5626-5628)Ctg>Ttg	p.L1876L	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Intron|FREM1_uc003zll.3_Silent_p.L412L	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1876					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GGGGGCAGCAGATGCCAAATG	0.527000														164			51		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457509	110457509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110457509C>T	uc003yne.3	+	37	5515	c.5411C>T	c.(5410-5412)cCt>cTt	p.P1804L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1804	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			CTTGTGACTCCTCTCCCAGTT	0.463000										HNSCC(38;0.096)				81			31		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834206	101834206	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:101834206G>A	uc003knn.3	-	0	515	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L	SLCO6A1_uc003kno.3_Silent_p.L115L|SLCO6A1_uc003knp.3_Silent_p.L115L|SLCO6A1_uc003knq.3_Silent_p.L115L	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	115	Cys-rich.					integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CATATGAGCAGGATGCAGTAG	0.572000														49			21		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138453020	138453020	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:138453020G>A	uc003ihe.4	-	0	610	c.223C>T	c.(223-225)Cct>Tct	p.P75S	PCDH18_uc003ihf.4_Missense_Mutation_p.P68S|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	75	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACAAGTAGAGGAGAATTTCCC	0.418000														133			56		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031330	79031330	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:79031330G>A	uc003kgc.3	+	1	6814	c.6742G>A	c.(6742-6744)Gaa>Aaa	p.E2248K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2248						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACTGCTGATGAACCCAGAGG	0.348000														86			39		0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5687273	5687273	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5687273G>A	uc001mbm.2	-	5	1109	c.806C>T	c.(805-807)cCa>cTa	p.P269L	TRIM6-TRIM34_uc009yer.3_Non-coding_Transcript|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Missense_Mutation_p.P269L|TRIM5_uc001mbp.3_Missense_Mutation_p.P269L	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.	269					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTGATTTTTTGGAAAAGTTTC	0.403000														90			30		0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17791332	17791332	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:17791332G>A	uc003zna.3	+	7	1016	c.728_splice	c.e7+1	p.R243_splice	SH3GL2_uc011lmy.2_Splice_Site_p.R196_splice	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	243	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		CTGGAAGAAAGGTATTCTACA	0.428000														71			5		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48602929	48602929	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48602929C>T	uc003ctz.2	-	115	8442	c.8441_splice	c.e115-1	p.R2814_splice	UCN2_uc003cty.1_5'Flank|UCN2_uc021wxo.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2814	Nonhelical region (NC2).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGAGGGGTCCTGGAGCCAA	0.642000														16			8		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639996	7639996	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7639996G>A	uc001qsz.3	-	7	2137	c.2009C>T	c.(2008-2010)tCa>tTa	p.S670L	CD163_uc001qta.3_Missense_Mutation_p.S670L|CD163_uc009zfw.2_Missense_Mutation_p.S703L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	670	SRCR 6.				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						AGGACATAATGAAGCACCTAG	0.483000														45			25		0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39729862	39729862	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:39729862C>T	uc002xjl.3	+	12	1423	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S	BC035080_uc002xjn.1_Non-coding_Transcript	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	393					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TGCCAAGGTTCCTTCTCCTCC	0.443000			T	NUP98	AML*									72			50		0	0	1	0	0
MKNK2	2872	broad.mit.edu	37	19	2041159	2041160	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:2041159_2041160GG>AA	uc002lus.2	-	11	1234_1235	c.989_990CC>TT	c.(988-990)ccc>cTT	p.P330L	MKNK2_uc021ump.1_5'Flank|MKNK2_uc002luq.1_Missense_Mutation_p.P74L|MKNK2_uc010xgu.1_Missense_Mutation_p.P169L|MKNK2_uc010xgv.1_Missense_Mutation_p.P199L|MKNK2_uc002lur.2_Missense_Mutation_p.P330L|MKNK2_uc002lut.1_Missense_Mutation_p.P74L	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 2 (MKNK2), transcript variant 2, mRNA.	330	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		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)		AGTCCTTGTCGGGGAACTCGTA	0.594000														86			38		0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42145615	42145615	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:42145615G>A	uc003gwn.3	-	2	1464	c.884C>T	c.(883-885)tCc>tTc	p.S295F	BEND4_uc003gwm.3_Missense_Mutation_p.S295F|BEND4_uc011byy.1_Missense_Mutation_p.S295F	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	295										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CGTTGCTGGGGAAGTCCAGCC	0.552000														13			5		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38748773	38748773	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38748773G>A	uc003ciq.3	-	24	4383	c.4383C>T	c.(4381-4383)ccC>ccT	p.P1461P		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1461					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGCTCACCAGGGGCCGTGGGA	0.547000														72			27		0	0	1	0	0
S100A3	6274	broad.mit.edu	37	1	153520175	153520175	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153520175G>A	uc001fca.1	-	2	372	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	S100A4_uc001fby.3_5'Flank|S100A4_uc001fbz.3_5'Flank|AK307246_uc009wog.1_Intron	NM_002960	NP_002951	P33764	S10A3_HUMAN	Homo sapiens S100 calcium binding protein A3 (S100A3), mRNA.	97							calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCAGGGGGGCTCTGAGGGG	0.622000														83			27		0	0	1	0	0
DNAJB6	10049	broad.mit.edu	37	7	157160088	157160088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:157160088C>T	uc003wnk.3	+	4	412	c.257C>T	c.(256-258)cCa>cTa	p.P86L	DNAJB6_uc003wnj.3_Missense_Mutation_p.P86L|DNAJB6_uc003wnl.3_Missense_Mutation_p.P73L|DNAJB6_uc011kvy.2_Missense_Mutation_p.P37L|DNAJB6_uc011kvz.2_Missense_Mutation_p.P86L|DNAJB6_uc010lqt.3_Missense_Mutation_p.P86L	NM_058246	NP_490647	O75190	DNJB6_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 6 (DNAJB6), transcript variant 1, mRNA.	86	Gly/Phe-rich.|Interaction with HSP70.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TTTGACAGTCCATTTGAATTT	0.363000														177			19		0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152818521	152818521	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:152818521G>A	uc004fht.1	+	10	1978	c.1852G>A	c.(1852-1854)Gaa>Aaa	p.E618K	ATP2B3_uc004fhs.1_Missense_Mutation_p.E618K	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	618					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAATGGCGAACTCCGGGG	0.612000														13			23		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144886117	144886117	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:144886117G>A	uc021ouh.1	-	22	3419	c.3117C>T	c.(3115-3117)ttC>ttT	p.F1039F	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_Silent_p.F1039F|PDE4DIP_uc001elx.4_Silent_p.F1105F|PDE4DIP_uc001elv.4_Silent_p.F46F	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1039					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.G1038A(1)		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)		ACACTGAGGAGAATCCTGCTT	0.547000			T	PDGFRB	MPD									109			23		0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903186	4903186	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4903186C>T	uc010qyp.2	+	0	138	c.138C>T	c.(136-138)ttC>ttT	p.F46F		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		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)		TCACTGCATTCCCTGGGCTGG	0.423000														84			37		0	0	1	0	0
STMN4	81551	broad.mit.edu	37	8	27097571	27097571	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:27097571C>T	uc011lak.2	-	5	622	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	STMN4_uc003xfj.3_Missense_Mutation_p.E170K|STMN4_uc011lai.2_Missense_Mutation_p.E170K|STMN4_uc011laj.2_Missense_Mutation_p.E134K|STMN4_uc003xfk.3_Missense_Mutation_p.E143K|STMN4_uc010luo.3_Missense_Mutation_p.E143K	NM_030795	NP_110422	Q9H169	STMN4_HUMAN	Homo sapiens stathmin-like 4 (STMN4), mRNA.	143					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		GCCAGTTTTTCCTTAGCCATC	0.527000														76			28		0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100105173	100105173	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:100105173C>T	uc004egj.3	-	8	1306	c.1100G>A	c.(1099-1101)aGg>aAg	p.R367K	NOX1_uc004egl.4_Missense_Mutation_p.R367K|NOX1_uc010nne.3_Missense_Mutation_p.R330K	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	367	FAD-binding FR-type.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TTCGAAAGCCCTTATGAGATT	0.473000														25			13		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73065742	73065742	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73065742C>T	uc004ebm.1	-	0		c.6847G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GAAAAGGGGCCTTGGTGATCA	0.512000														45			49		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8670542	8670542	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8670542G>A	uc002mkj.1	-	2	328	c.54C>T	c.(52-54)ctC>ctT	p.L18L	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	18					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						CCTCGAACATGAGGCCCAGCC	0.657000														18			10		0	0	1	0	0
ATXN10	25814	broad.mit.edu	37	22	46096167	46096167	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:46096167C>T	uc003bgm.2	+	3	663	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	ATXN10_uc011aqt.2_Missense_Mutation_p.R69C|ATXN10_uc003bgn.2_5'UTR	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	Homo sapiens ataxin 10 (ATXN10), transcript variant 1, mRNA.	133					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CTTAGCTTTTCGCTGTGGCCT	0.313000														32			15		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161214865	161214865	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:161214865C>T	uc011bpb.2	+	0	270	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	90						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TTGAAAACTTCACTCTTGACC	0.473000														155			34		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88423632	88423632	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:88423632G>A	uc002bme.2	-	18	2509	c.2203C>T	c.(2203-2205)Cgc>Tgc	p.R735C	NTRK3_uc002bmh.2_Missense_Mutation_p.R713C|NTRK3_uc002bmf.2_Missense_Mutation_p.R721C|NTRK3_uc021sua.1_Missense_Mutation_p.R713C	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	735	Protein kinase.		R -> F (in a lung large cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions).		transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R721F(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGCATCCAGCGAATGGGGAGC	0.507000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				47			32		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152605214	152605214	+	Missense_Mutation	SNP	C	T	T	rs147615757		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:152605214C>T	uc021zhb.1	-	93	18329	c.18106G>A	c.(18106-18108)Gac>Aac	p.D6036N	SYNE1_uc003qos.4_Missense_Mutation_p.D560N|SYNE1_uc003qot.4_Missense_Mutation_p.D5965N|SYNE1_uc003qou.4_Missense_Mutation_p.D6036N|SYNE1_uc010kiy.1_Missense_Mutation_p.D215N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6036					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.A6035V(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCGCAGGGTCGGCCTCACAA	0.562000										HNSCC(10;0.0054)				30			20		0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115950740	115950740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:115950740G>A	uc004bgs.2	-	12	1358	c.1205C>T	c.(1204-1206)cCt>cTt	p.P402L	FKBP15_uc010muu.1_Missense_Mutation_p.P466L|FKBP15_uc011lxc.1_5'Flank|FKBP15_uc011lxd.1_Missense_Mutation_p.P334L|FKBP15_uc010mut.1_Missense_Mutation_p.P270L|FKBP15_uc004bgt.2_Missense_Mutation_p.P402L	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	402					endocytosis|protein folding	axon|early endosome	actin binding	p.P402L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						AGTCACCACAGGCTGCCCACC	0.567000														77			8		0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78888958	78888958	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:78888958C>T	uc002bec.3	-	5	2007	c.1506G>A	c.(1504-1506)agG>agA	p.R502R	CHRNA3_uc002beb.3_Intron|CHRNA3_uc002bea.3_Non-coding_Transcript|CHRNA3_uc010blg.2_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	502					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGCATCTTCCCTGGCCATCA	0.493000														71			21		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169145710	169145710	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:169145710G>A	uc003maf.3	+	21	2262	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.E220K	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	728					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			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)			CAGCAGAGGGGAGCAATGTGA	0.383000														60			31		0	0	1	0	0
PXK	54899	broad.mit.edu	37	3	58382778	58382778	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58382778C>T	uc003djz.1	+	9	934	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F	PXK_uc003djx.1_Missense_Mutation_p.L279F|PXK_uc003dka.1_Missense_Mutation_p.L279F|PXK_uc003dkb.1_Missense_Mutation_p.L196F|PXK_uc003dkc.1_Missense_Mutation_p.L262F|PXK_uc011bfe.1_Missense_Mutation_p.L246F|PXK_uc010hnj.1_Missense_Mutation_p.L246F|PXK_uc003dkd.1_Missense_Mutation_p.L142F|PXK_uc010hnk.1_Missense_Mutation_p.L53F	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	Homo sapiens PX domain containing serine/threonine kinase (PXK), mRNA.	279	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	ATP binding|actin binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		ACTGAAGTTTCTTCATGACAA	0.398000														119			52		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77799640	77799640	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:77799640G>A	uc021rks.1	-	18	3054	c.2787C>T	c.(2785-2787)taC>taT	p.Y929Y	MYCBP2_uc010aev.3_Silent_p.Y295Y	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	891					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCCTGGAGGGTATGTTGTGA	0.443000														84			38		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087697	9087697	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9087697G>A	uc002mkp.3	-	0	4322	c.4118C>T	c.(4117-4119)tCa>tTa	p.S1373L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1373	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						GAGATTGGGTGAACTTGAGAT	0.468000														72			36		0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703333	55703333	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55703333C>T	uc010ris.2	-	0	544	c.544G>A	c.(544-546)Gac>Aac	p.D182N		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGAGGGAGGTCACAGAAAAAA	0.403000														47			11		0	0	1	0	0
LOC442132	442132	broad.mit.edu	37	5	7303854	7303854	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:7303854C>T	uc003jdy.2	-	4		c.500G>A								Homo sapiens golgin A6 family-like 1 pseudogene (LOC442132), non-coding RNA.																		TTCAAATTTCCTGGCAGCATC	0.498000														13			12		0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3430213	3430213	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3430213G>A	uc002fvr.2	-	11	1834	c.1512C>T	c.(1510-1512)gcC>gcT	p.A504A	TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Silent_p.A488A|TRPV3_uc010vri.1_Silent_p.A459A|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Silent_p.A504A|TRPV3_uc010vrj.1_Silent_p.A488A|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Silent_p.A488A|TRPV3_uc002fvu.3_Silent_p.A504A|TRPV3_uc010vrn.1_Silent_p.A86A	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	504						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GCAGGAAGATGGCAATGCCCT	0.567000														6			9		0	0	1	0	0
ZNF688	146542	broad.mit.edu	37	16	30581396	30581396	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30581396G>A	uc002dyt.2	-	2	1450	c.672C>T	c.(670-672)ttC>ttT	p.F224F	ZNF688_uc002dys.2_Silent_p.F210F|ZNF785_uc002dyu.3_5'Flank	NM_145271	NP_660314	P0C7X2	ZN688_HUMAN	Homo sapiens zinc finger protein 688 (ZNF688), transcript variant 1, mRNA.	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CTTCCACTGCGAACTTCCTCT	0.706000														17			5		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36166573	36166573	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:36166573G>A	uc003gsq.2	-	10	2474	c.2136C>T	c.(2134-2136)tcC>tcT	p.S712S	ARAP2_uc003gsr.1_Silent_p.S712S	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	712	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						AGAGATTGATGGATGCCCAGT	0.428000														95			11		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149829	153149829	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:153149829G>A	uc011dcy.2	+	12	2181	c.2154G>A	c.(2152-2154)agG>agA	p.R718R	GRIA1_uc003lva.4_Silent_p.R708R|GRIA1_uc003luy.4_Silent_p.R708R|GRIA1_uc003luz.4_Silent_p.R613R|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.R628R|GRIA1_uc011dcx.2_Silent_p.R639R|GRIA1_uc011dcz.2_Silent_p.R718R	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	708					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCGAGTGAGGAAATCCAAAG	0.483000														59			22		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236205562	236205563	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:236205562_236205563CC>TT	uc001hxo.3	-	3	884_885	c.782_783GG>AA	c.(781-783)tgg>tAA	p.W261*	NID1_uc009xgd.3_Nonsense_Mutation_p.W261*	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	261	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCTCAAACACCCAGACACCCTG	0.554000														229			70		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3674315	3674315	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3674315G>A	uc002wja.3	-	12	3287	c.3287C>T	c.(3286-3288)aCc>aTc	p.T1096I	SIGLEC1_uc002wiz.4_Missense_Mutation_p.T1096I|SIGLEC1_uc002wjb.1_5'Flank	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1096	Ig-like C2-type 11.				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						CTCCCGCACGGTAGCCCCGGG	0.647000														30			10		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120824973	120824973	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:120824973G>A	uc001ldu.3	-	6	1206	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	EIF3A_uc010qsu.2_Missense_Mutation_p.R320C	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	354					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GTTGCAAGGCGACGCTGTTTT	0.428000														99			30		0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58954710	58954710	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:58954710C>T	uc010trr.2	+	24	3813	c.3569C>T	c.(3568-3570)tCc>tTc	p.S1190F	KIAA0586_uc001xdu.4_Missense_Mutation_p.S1122F|KIAA0586_uc010trs.2_Missense_Mutation_p.S1052F|KIAA0586_uc001xdt.4_Missense_Mutation_p.S1093F|KIAA0586_uc001xdv.4_Missense_Mutation_p.S1061F|KIAA0586_uc010trt.2_Missense_Mutation_p.S997F|KIAA0586_uc010tru.1_Missense_Mutation_p.S997F	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	1061										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCAGATATTTCCATTGATAAA	0.473000														19			11		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149509362	149509363	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149509362_149509363GG>AA	uc010lpk.3	+	68	9751_9752	c.9751_9752GG>AA	c.(9751-9753)gga>AAa	p.G3251K		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3254					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGAGCTGGGGGATGGGGTCCA	0.703000														22			4		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3180142	3180142	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:3180142C>T	uc021xkv.1	+	34	4726	c.4581C>T	c.(4579-4581)atC>atT	p.I1527I		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1527					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTGATGGCATCATGGCCAGTG	0.418000														124			31		0	0	1	0	0
TBC1D21	161514	broad.mit.edu	37	15	74174023	74174023	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74174023C>T	uc002avz.3	+	2	290	c.207C>T	c.(205-207)ttC>ttT	p.F69F	TBC1D21_uc010ulc.2_Silent_p.F33F	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	69	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CCTGGAAATTCCTCACGGGCT	0.597000														48			13		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32955366	32955366	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:32955366G>A	uc001rlj.4	-	10	2385	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F	PKP2_uc001rlk.4_Missense_Mutation_p.S713F|PKP2_uc010skj.2_Missense_Mutation_p.S710F	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	757					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AAGATTCCGGGACAGATTCCT	0.443000														173			80		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995902	140995902	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140995902C>T	uc004fbt.3	+	3	3036	c.2712C>T	c.(2710-2712)ttC>ttT	p.F904F	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_Silent_p.F563F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	904							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)					AGCCCTTGTTCACTTATACAC	0.478000										HNSCC(15;0.026)				77			84		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238303556	238303556	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:238303556C>T	uc002vwl.2	-	2	668	c.383G>A	c.(382-384)aGc>aAc	p.S128N	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Intron|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.S128N	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	128	Nonhelical region.|VWFA 1.			QS -> AK (in Ref. 4; AAB24261).	axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGTGAGGTGGCTTTGCATTAT	0.478000														81			43		0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116837253	116837253	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116837253G>A	uc004bie.4	-	2	587	c.324C>T	c.(322-324)ctC>ctT	p.L108L	AMBP_uc011lxk.2_Silent_p.L49L|AMBP_uc010mvc.1_Non-coding_Transcript	NM_001633	NP_001624	P02760	AMBP_HUMAN	Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	108					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ATTTGTGATAGAGAAACTTCC	0.438000														99			10		0	0	1	0	0
CCT6B	10693	broad.mit.edu	37	17	33266229	33266229	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:33266229G>A	uc002hig.3	-	9	1302	c.1186C>T	c.(1186-1188)Cgt>Tgt	p.R396C	CCT6B_uc010ctg.3_Missense_Mutation_p.R359C|CCT6B_uc010wcc.2_Missense_Mutation_p.R351C	NM_006584	NP_006575	Q92526	TCPW_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6B (zeta 2) (CCT6B), transcript variant 1, mRNA.	396					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	p.R396C(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TTGATAGCACGAAGTCCATCT	0.363000														94			61		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8987264	8987264	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8987264C>T	uc002mkp.3	-	67	42027	c.41823G>A	c.(41821-41823)atG>atA	p.M13941I	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.M758I|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13966	SEA 13.			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						CGGGTTGGCCCATGTCCGCCA	0.602000														41			9		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50957857	50957857	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50957857C>T	uc009xog.3	-	6	1017	c.983G>A	c.(982-984)aGg>aAg	p.R328K	OGDHL_uc001jie.3_Missense_Mutation_p.R301K|OGDHL_uc010qgt.2_Missense_Mutation_p.R244K|OGDHL_uc010qgu.2_Missense_Mutation_p.R92K|OGDHL_uc009xoh.2_Missense_Mutation_p.R92K	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	301					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.D328D(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CACGTTCAGCCTTCCCCTGGA	0.667000														12			7		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137028	126137028	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:126137028G>A	uc001uhe.1	+	7	1949	c.1941G>A	c.(1939-1941)acG>acA	p.T647T	TMEM132B_uc001uhf.1_Silent_p.T159T	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	647						integral to membrane		p.K646Q(1)		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)		CTGAGAAGACGGTGATTGTCC	0.572000														32			15		0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30889719	30889719	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:30889719G>A	uc003xin.3	-	0	599	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	WRN_uc003xio.4_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.R194C	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	Homo sapiens purine-rich element binding protein G (PURG), transcript variant A, mRNA.	194						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CGTAGGAAGCGACCCCGCTGA	0.488000														83			29		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77300426	77300426	+	Silent	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77300426G>C	uc004aji.3	+	9	1354	c.1305G>C	c.(1303-1305)ggG>ggC	p.G435G	RORB_uc004ajh.3_Silent_p.G424G	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	435	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACTTGCACGGGGAGAAGCTGC	0.478000														125			41		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50208333	50208333	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50208333C>T	uc010eng.3	+	8	1157	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L	CPT1C_uc002ppl.4_Silent_p.L247L|CPT1C_uc002ppi.3_Silent_p.L198L|CPT1C_uc002ppk.3_Silent_p.L270L|CPT1C_uc010enh.3_Silent_p.L281L|CPT1C_uc002ppj.3_Silent_p.L281L|CPT1C_uc010ybc.1_Silent_p.L119L|CPT1C_uc010eni.1_5'Flank	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	281					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TGCCCTCCTCCTGTACCGCCA	0.652000														76			22		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13395998	13395998	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:13395998G>T	uc002mwy.3	-	20	3812	c.3576C>A	c.(3574-3576)gaC>gaA	p.D1192E	CACNA1A_uc010dzc.2_Missense_Mutation_p.D718E|CACNA1A_uc010xnd.2_Missense_Mutation_p.D1195E|CACNA1A_uc021ups.1_Missense_Mutation_p.D1192E|CACNA1A_uc010xne.2_Missense_Mutation_p.D1195E|CACNA1A_uc010dze.2_Missense_Mutation_p.D1192E|CACNA1A_uc021upt.1_Missense_Mutation_p.D1193E	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1193					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTGGCAGTGGGTCTGGGTTGG	0.537000														59			18		3.32936e-07	3.33676e-07	1	1	0
FAT4	79633	broad.mit.edu	37	4	126372625	126372625	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126372625C>T	uc003ifj.4	+	8	10454	c.10454C>T	c.(10453-10455)tCa>tTa	p.S3485L	FAT4_uc011cgp.2_Missense_Mutation_p.S1783L|FAT4_uc003ifi.1_Missense_Mutation_p.S963L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3485	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D3484N(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTGTTGATTCAGGGACCCCC	0.458000														146			59		0	0	1	0	0
TMEM183B	653659	broad.mit.edu	37	1	202991991	202991991	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:202991991C>T	uc001gyu.1	+	7	1014	c.954C>T	c.(952-954)atC>atT	p.I318I	TMEM183B_uc001gyv.1_Non-coding_Transcript|TMEM183B_uc001gyw.1_Silent_p.I317I	NM_001079809	NP_001073277	Q1AE95	T183B_HUMAN	Homo sapiens transmembrane protein 183B (TMEM183B), mRNA.	318						integral to membrane								BRCA - Breast invasive adenocarcinoma(75;0.18)			AGTTTACTATCAATGTGAGCA	0.448000														158			59		0	0	1	0	0
TPD52L1	7164	broad.mit.edu	37	6	125574873	125574873	+	Missense_Mutation	SNP	C	T	T	rs34034771		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:125574873C>T	uc003pzu.1	+	4	616	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	TPD52L1_uc003pzv.1_Missense_Mutation_p.R133C|TPD52L1_uc003pzw.1_Intron|TPD52L1_uc003pzx.1_3'UTR|TPD52L1_uc003pzy.1_Missense_Mutation_p.R104C|TPD52L1_uc003pzz.1_Intron	NM_003287	NP_001003395	Q16890	TPD53_HUMAN	Homo sapiens tumor protein D52-like 1 (TPD52L1), transcript variant 1, mRNA.	133					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		TTACTCCATTCGCCATTCCAT	0.299000														66			33		0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13613031	13613031	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:13613031G>A	uc004cvj.3	+	2	551	c.264G>A	c.(262-264)ggG>ggA	p.G88G	EGFL6_uc004cvi.3_Silent_p.G88G|EGFL6_uc011mik.1_5'UTR|RN7SK_uc022btd.1_5'Flank	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	88	EGF-like 1.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GATACACCGGGAAAACCTGCA	0.473000														14			16		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702859	181702859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181702859C>T	uc009wxt.3	+	20	3430	c.3235C>T	c.(3235-3237)Ccc>Tcc	p.P1079S	CACNA1E_uc001gow.3_Missense_Mutation_p.P1079S|CACNA1E_uc009wxs.3_Missense_Mutation_p.P1060S|CACNA1E_uc001gox.1_Missense_Mutation_p.P305S	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1079					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.D1078D(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						CGACGTGGACCCCTTGGTGGA	0.627000														39			10		0	0	1	0	0
TCTN1	79600	broad.mit.edu	37	12	111078277	111078277	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:111078277C>T	uc001trn.4	+	7	1089	c.933C>T	c.(931-933)ctC>ctT	p.L311L	TCTN1_uc010syc.2_Non-coding_Transcript|TCTN1_uc009zvs.3_Silent_p.L311L|TCTN1_uc001trm.3_Silent_p.L251L|TCTN1_uc001trp.4_Silent_p.L297L|TCTN1_uc001trj.2_Silent_p.L255L|TCTN1_uc001trk.4_Non-coding_Transcript|HVCN1_uc001trq.1_Intron	NM_001082538	NP_001076007	Q2MV58	TECT1_HUMAN	Homo sapiens tectonic family member 1 (TCTN1), transcript variant 1, mRNA.	311					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						AGCCGACTCTCGTCAACGCTG	0.507000														52			28		0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114186370	114186370	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:114186370C>T	uc001edk.3	+	10	2153	c.1972C>T	c.(1972-1974)Cct>Tct	p.P658S	MAGI3_uc001edh.3_Missense_Mutation_p.P683S|MAGI3_uc001edi.4_Missense_Mutation_p.P658S|MAGI3_uc010owm.2_Missense_Mutation_p.P683S|MAGI3_uc001edj.3_Missense_Mutation_p.P379S	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	683	PDZ 3.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	p.P658P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTAAGGTCCTCCTTCACCAAC	0.393000														98			36		0	0	1	0	0
LOC255025	255025	broad.mit.edu	37	3	94890827	94890827	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:94890827G>A	uc003drn.3	+	2		c.291G>A								Homo sapiens uncharacterized LOC255025 (LOC255025), non-coding RNA.																		CAACATCAATGGGGGGTGGAA	0.478000														35			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8993436	8993436	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8993436G>A	uc002mkp.3	-	65	41857	c.41653C>T	c.(41653-41655)Ctg>Ttg	p.L13885L	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.L702L|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13888	SEA 12.			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						CTGTGGGTCAGCTGGCTCAGC	0.592000														216			19		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12364652	12364652	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12364652C>T	uc001atv.3	+	25	6447	c.6306C>T	c.(6304-6306)tcC>tcT	p.S2102S	VPS13D_uc001atw.3_Silent_p.S2102S|VPS13D_uc001atx.3_Silent_p.S1290S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2102					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAACCCATTCCCAGGGGCAGT	0.567000														61			22		0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149263071	149263071	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149263071C>T	uc003lrg.4	-	16	2176	c.2056G>A	c.(2056-2058)Gat>Aat	p.D686N	PDE6A_uc021yfs.1_Missense_Mutation_p.D605N	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	686					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTAGACTGATCCACGATCTTT	0.443000														55			5		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40076552	40076552	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:40076552G>A	uc001rmc.3	+	7	993	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	276										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						AAATGGAAAGGAAGTTTCAAA	0.328000														120			37		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167056312	167056312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:167056312G>A	uc010fpl.3	-	26	5145	c.4804C>T	c.(4804-4806)Cgt>Tgt	p.R1602C	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1613						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTGGCAAGACGGATCACTCGG	0.428000														133			47		0	0	1	0	0
FAM89A	375061	broad.mit.edu	37	1	231155655	231155655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:231155655G>A	uc001hui.2	-	1	547	c.509C>T	c.(508-510)cCt>cTt	p.P170L	FAM89A_uc021pkk.1_Non-coding_Transcript	NM_198552	NP_940954	Q96GI7	FA89A_HUMAN	Homo sapiens family with sequence similarity 89, member A (FAM89A), mRNA.	170										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGAGGAGACAGGCAGTGACAA	0.577000														64			6		0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64056769	64056769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64056769C>T	uc010rni.2	+	8	1388	c.1360C>T	c.(1360-1362)Cgt>Tgt	p.R454C	GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_3'UTR|GPR137_uc001nzi.3_3'UTR|GPR137_uc021qkt.1_Missense_Mutation_p.R396C|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.	396						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TCCTGGGGGTCGTGGCTACCC	0.667000														149			64		0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128928849	128928849	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:128928849C>T	uc002tps.3	+	27	3273	c.3095C>T	c.(3094-3096)cCt>cTt	p.P1032L	UGGT1_uc010fme.1_Missense_Mutation_p.P907L|UGGT1_uc002tpr.3_Missense_Mutation_p.P1008L	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1032					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCTGACATGCCTTTAAAAAGG	0.338000														40			13		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38855747	38855747	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38855747C>T	uc002oih.4	+	21	2690	c.2603C>T	c.(2602-2604)cCc>cTc	p.P868L	CATSPERG_uc002oig.4_Missense_Mutation_p.P828L|CATSPERG_uc002oif.4_Missense_Mutation_p.P508L|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	868					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CACCTGGGGCCCCATATGCAA	0.602000														69			29		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100189522	100189522	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100189522G>A	uc011kjz.1	+	3	737	c.669G>A	c.(667-669)aaG>aaA	p.K223K	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Silent_p.K171K|FBXO24_uc003uvm.1_Silent_p.K185K|FBXO24_uc003uvn.1_5'UTR|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Silent_p.K173K	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	185						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGGAGCCAAGGATGTGAGTA	0.552000														73			20		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733505	152733505	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152733505C>T	uc001fal.1	+	1	1499	c.1441C>T	c.(1441-1443)Ctg>Ttg	p.L481L	KPRP_uc021ozf.1_Silent_p.L481L	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	481	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAATTCCCCTGCCGGCGCC	0.662000														103			52		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113833	94113833	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:94113833G>A	uc001pet.2	-	3	926	c.754C>T	c.(754-756)Ctc>Ttc	p.L252F		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	252						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGATGAGGAGGGGCAGGATG	0.567000														39			13		0	0	1	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151205035	151205035	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151205035C>T	uc001exj.3	+	6	947	c.495C>T	c.(493-495)ctC>ctT	p.L165L	PIP5K1A_uc021oyo.1_Silent_p.L153L|PIP5K1A_uc001exi.3_Silent_p.L152L|PIP5K1A_uc010pcu.2_Silent_p.L153L|PIP5K1A_uc001exk.3_Silent_p.L152L|PIP5K1A_uc010pcv.2_5'Flank	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A), transcript variant 1, mRNA.	165	PIPK.				phospholipid biosynthetic process|signal transduction	Golgi stack|endomembrane system|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGTATTCCCTCTGCAGTGAGC	0.428000														49			28		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104174648	104174648	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104174648C>T	uc001kvg.1	-	3	1623	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.E366K	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	366					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	p.L365M(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCAAACACCTCGTCGTCCACA	0.657000														91			36		0	0	1	0	0
PIP	5304	broad.mit.edu	37	7	142836195	142836195	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142836195C>T	uc003wcf.1	+	2	265	c.229C>T	c.(229-231)Cct>Tct	p.P77S		NM_002652	NP_002643	P12273	PIP_HUMAN	Homo sapiens prolactin-induced protein (PIP), mRNA.	77						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		TAGCAGCATCCCTCTACAAGG	0.428000														90			30		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876420	35876420	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35876420C>T	uc003jjs.3	+	7	1301	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	404					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACCAGGACCTCCTGCTTAGCC	0.547000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							34			21		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	666022	666022	+	Silent	SNP	C	T	T	rs150365241		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:666022C>T	uc001qii.1	+	14	2370	c.2370C>T	c.(2368-2370)ttC>ttT	p.F790F	B4GALNT3_uc001qik.1_Silent_p.F339F	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	790						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	p.F790F(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGGTCCACTTCGTCGTGCCTG	0.607000														33			7		0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24583561	24583561	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:24583561C>T	uc002zzn.1	+	11	1958	c.1914C>T	c.(1912-1914)tcC>tcT	p.S638S		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	638	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						ATGCGTCCTCCCTGCTCACCT	0.612000														67			20		0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37879797	37879797	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:37879797C>T	uc010efk.1	+	4	957	c.846C>T	c.(844-846)gcC>gcT	p.A282A	ZNF527_uc002ogf.3_Silent_p.A250A|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGGTGATGCCTTTAGCTGTT	0.383000														134			45		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70672746	70672746	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:70672746G>A	uc003pfc.1	+	10	1127	c.1010G>A	c.(1009-1011)gGa>gAa	p.G337E	COL19A1_uc010kam.2_Missense_Mutation_p.G233E	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	337	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGCAGCAAAGGAGAAACTGGT	0.274000														43			17		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50611658	50611658	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:50611658G>A	uc003tpg.4	-	1	327	c.126C>T	c.(124-126)atC>atT	p.I42I	DDC_uc022ade.1_Silent_p.I42I|DDC_uc003tpf.4_Silent_p.I42I|DDC_uc022adb.1_Silent_p.I42I|DDC_uc022adc.1_Silent_p.I42I|DDC_uc022add.1_Silent_p.I42I|DDC_uc022adf.1_Silent_p.I42I	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	42					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CAGCGGCAGGGATCAGCGGCC	0.562000														118			92		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119064785	119064785	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:119064785G>A	uc003ibx.3	+	5	1888	c.1485G>A	c.(1483-1485)gaG>gaA	p.E495E	NDST3_uc011cgf.1_Silent_p.E414E	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	495	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GTCCTAAAGAGCTGGATAAGA	0.403000														52			28		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21789343	21789343	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:21789343C>T	uc003svc.3	+	53	8773	c.8742C>T	c.(8740-8742)ccC>ccT	p.P2914P		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2914	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAACATGCCCACTGTGTTCC	0.458000									Kartagener syndrome					49			11		0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52965784	52965784	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52965784C>T	uc001sap.1	-	2	739	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	231	Coil 1B.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		ATCTCCACTTCATATCTGCCA	0.537000														104			14		0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294729	124294729	+	Silent	SNP	G	A	A	rs151066825		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124294729G>A	uc010sak.2	-	0	39	c.39C>T	c.(37-39)atC>atT	p.I13I		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		ATCCCACAAGGATAAACTCAG	0.488000														51			13		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94697645	94697645	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94697645G>A	uc001ycs.1	+	4	663	c.509G>A	c.(508-510)cGg>cAg	p.R170Q		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	170						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GAAACCCTACGGCATGAGGTA	0.338000														76			33		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31062105	31062105	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:31062105C>T	uc002yno.1	-	2	951	c.487G>A	c.(487-489)Gat>Aat	p.D163N	GRIK1_uc002ynn.3_Missense_Mutation_p.D163N|GRIK1_uc011acs.2_Missense_Mutation_p.D163N|GRIK1_uc011act.2_Missense_Mutation_p.D107N|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.3_Missense_Mutation_p.D163N	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	163					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	AGGACCAGATCCAGGATCGCC	0.488000														221			29		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175355212	175355212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175355212C>T	uc001gkp.1	-	5	1814	c.1733G>A	c.(1732-1734)cGa>cAa	p.R578Q	TNR_uc009wwu.1_Missense_Mutation_p.R578Q	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	578	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.R578*(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTTGGTCCCTCGGACGGCACT	0.637000														104			40		0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51294740	51294740	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51294740C>T	uc001zyx.2	+	20	3402	c.3295C>T	c.(3295-3297)Ccc>Tcc	p.P1099S	AP4E1_uc021skz.1_Missense_Mutation_p.P1024S|AP4E1_uc010bex.1_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	1099					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CCCATCCATCCCCTGCTTACT	0.413000														155			59		0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160274736	160274736	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:160274736C>T	uc003iqg.4	+	21	4016	c.3706C>T	c.(3706-3708)Cgc>Tgc	p.R1236C		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	1236					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TCAGGGGGATCGCGCGTCACT	0.532000														107			29		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120817749	120817749	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:120817749G>A	uc001ldu.3	-	11	1842	c.1696C>T	c.(1696-1698)Cag>Tag	p.Q566*	EIF3A_uc010qsu.2_Nonsense_Mutation_p.Q532*	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	566					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGGATCCGCTGGTGCTCTTTT	0.433000														20			7		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110864522	110864522	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:110864522G>A	uc003hzy.4	+	2	892	c.440G>A	c.(439-441)gGa>gAa	p.G147E	EGF_uc011cfu.2_Missense_Mutation_p.G147E|EGF_uc011cfv.2_Missense_Mutation_p.G147E	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	147					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GATATGAAAGGAAATAATTCC	0.308000														76			35		0	0	1	0	0
RAD23B	5887	broad.mit.edu	37	9	110081045	110081045	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:110081045C>A	uc004bde.3	+	5	960	c.566C>A	c.(565-567)tCt>tAt	p.S189Y	RAD23B_uc011lwa.2_Missense_Mutation_p.S189Y|RAD23B_uc022blj.1_Missense_Mutation_p.S117Y|RAD23B_uc011lwb.2_Missense_Mutation_p.S168Y	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	189	UBA 1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	XPC complex|cytoplasm|nucleoplasm|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						ACGGGTCAGTCTTACGAGAAT	0.403000								Direct reversal of damage;Nucleotide excision repair (NER)						98			56		1.64573e-32	1.65588e-32	1	1	0
APOB	338	broad.mit.edu	37	2	21231189	21231189	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21231189C>T	uc002red.3	-	25	8679	c.8551G>A	c.(8551-8553)Gag>Aag	p.E2851K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2851					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATTTTCCCTCAATAGCATTT	0.413000														220			58		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111936872	111936872	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:111936872C>T	uc004bdz.1	-	25	2960	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	889						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCATCTTCTCTCTCTCCAGT	0.448000														53			5		0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27683082	27683082	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27683082G>A	uc001bny.1	-	25	3773	c.3524_splice	c.e25+1	p.R1175_splice	MAP3K6_uc009vsw.1_Splice_Site_p.R1167_splice	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	1175					activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGGCTTTACCGATCAGTCTCT	0.642000														24			13		0	0	1	0	0
TNFRSF17	608	broad.mit.edu	37	16	12060155	12060155	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:12060155G>A	uc002dbv.3	+	1	452	c.234G>A	c.(232-234)agG>agA	p.R78R	TNFRSF17_uc010buy.3_Silent_p.R78R|TNFRSF17_uc010buz.3_Intron	NM_001192	NP_001183	Q02223	TNR17_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 17 (TNFRSF17), mRNA.	78					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						TTTTGCTAAGGAAGATAAACT	0.383000			T	IL2	intestinal T-cell lymphoma									92			29		0	0	1	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047149	46047149	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46047149G>A	uc002zfp.4	+	0	110	c.61G>A	c.(61-63)Gac>Aac	p.D21N	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	21						keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCAGGTGGACGACTGCCCAGA	0.687000														75			39		0	0	1	0	0
KLK7	5650	broad.mit.edu	37	19	51483734	51483734	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51483734G>A	uc002puo.3	-	3	333	c.231C>T	c.(229-231)acC>acT	p.T77T	KLK7_uc002pup.3_Silent_p.T77T|KLK7_uc021uyj.1_Silent_p.T70T|KLK7_uc010eok.3_Silent_p.T5T	NM_139277	NP_001193982	P49862	KLK7_HUMAN	Homo sapiens kallikrein-related peptidase 7 (KLK7), transcript variant 2, mRNA.	77	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		CCAGGTGCACGGTGTACTCAC	0.582000														57			9		0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35245491	35245491	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:35245491G>A	uc001wsk.3	-	17	3035	c.2467C>T	c.(2467-2469)Ctc>Ttc	p.L823F	BAZ1A_uc001wsl.3_Missense_Mutation_p.L791F	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	823	Interaction with SMARCA5.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TCAATAAAGAGTCCAGGAATA	0.413000														94			46		0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795593	142795593	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:142795593C>T	uc004fbz.3	-	1	839	c.85G>A	c.(85-87)Gag>Aag	p.E29K		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	29								p.Q28H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCGGTGCCTCCTGCATCTGA	0.423000														20			21		0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269119	30269119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:30269119C>T	uc022buh.1	+	0	509	c.509C>T	c.(508-510)cCt>cTt	p.P170L	MAGEB1_uc004dcc.3_Missense_Mutation_p.P170L|MAGEB1_uc004dcd.3_Missense_Mutation_p.P170L|MAGEB1_uc004dce.3_Missense_Mutation_p.P170L	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	170	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GAAGACAACCCTAGTGGCCAC	0.493000														8			10		0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125769852	125769852	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:125769852G>A	uc001lhn.3	-	7	2233	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	CHST15_uc001lhm.3_Missense_Mutation_p.P500L	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	500					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CTCACTTAAGGGCCCTAGAAT	0.547000														4			5		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142099651	142099651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142099651G>A	uc003vyz.1	-	1	151	c.151C>T	c.(151-153)Ctt>Ttt	p.L51F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.L51F					SubName: Full=Uncharacterized protein;																		TACCAAAAAAGGGATACATGA	0.517000														44			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074263	9074263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9074263C>T	uc002mkp.3	-	2	13387	c.13183G>A	c.(13183-13185)Gga>Aga	p.G4395R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4397	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						GTTGCAGCTCCAGTAGGACCT	0.463000														101			45		0	0	1	0	0
INTS9	55756	broad.mit.edu	37	8	28695168	28695168	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:28695168G>A	uc003xha.3	-	4	686	c.387C>T	c.(385-387)acC>acT	p.T129T	INTS9_uc011lav.2_Silent_p.T105T|INTS9_uc011law.2_Silent_p.T108T|INTS9_uc011lax.2_Silent_p.T22T|INTS9_uc010lvc.3_Non-coding_Transcript	NM_018250	NP_001166033	Q9NV88	INT9_HUMAN	Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA.	129					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CGATCTGGACGGTGGGTTCCG	0.532000														30			5		0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93629424	93629424	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:93629424G>A	uc004aqz.3	+	6	1063	c.858G>A	c.(856-858)gcG>gcA	p.A286A	SYK_uc004ara.3_Intron|SYK_uc004arb.3_Intron|SYK_uc004arc.3_Silent_p.A286A|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	286	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	p.P285T(1)|p.A286A(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CTTGGTCAGCGGGTGGAATAA	0.443000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									76			25		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703087	4703087	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4703087G>A	uc001lzk.2	-	1	1099	c.855C>T	c.(853-855)gtC>gtT	p.V285V	OR51E2_uc021qcr.1_Silent_p.V285V	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGGATTGATGACAGGAGGCA	0.512000														47			22		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102495961	102495961	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102495961G>A	uc001phc.3	-	0	103	c.90C>T	c.(88-90)tcC>tcT	p.S30S		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	30					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.A29A(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		AGGTCCTGGGGGAGGCTGCAA	0.532000														75			18		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79399106	79399106	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:79399106G>A	uc003hlb.2	+	54	8429	c.7989G>A	c.(7987-7989)gcG>gcA	p.A2663A		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2658	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCACCCAGGCGAAGGTCATTA	0.458000														23			5		0	0	1	0	0
ADRB1	153	broad.mit.edu	37	10	115804214	115804214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115804214G>A	uc001lba.3	+	0	409	c.323G>A	c.(322-324)gGg>gAg	p.G108E		NM_000684	NP_000675	P08588	ADRB1_HUMAN	Homo sapiens adrenergic, beta-1-, receptor (ADRB1), mRNA.	108					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	CTGGTCATGGGGCTGCTGGTG	0.657000														75			38		0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58980191	58980192	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:58980191_58980192CC>TT	uc001nnu.4	-	0	303_304	c.147_148GG>AA	c.(145-150)gggggc>ggAAgc	p.G50S		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	50	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TTGTCCCAGCCCCCTCCAGGTA	0.495000														157			71		0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100144721	100144721	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:100144721C>T	uc001kpc.3	-	14	1744	c.1658G>A	c.(1657-1659)gGa>gAa	p.G553E	PYROXD2_uc001kpb.3_Non-coding_Transcript	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	553							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						AGCCCCACTTCCACAGAGATA	0.612000														20			8		0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55652907	55652907	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55652907G>A	uc010rip.2	+	1	95	c.3G>A	c.(1-3)atG>atA	p.M1I	TRIM51_uc010riq.2_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	1						intracellular	zinc ion binding										TCAGAAACATGAATTCTGGAA	0.443000														170			50		0	0	1	0	0
FLJ31813	326332	broad.mit.edu	37	10	51818892	51818892	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:51818892G>A	uc001jiz.1	-	2		c.1539C>T								Homo sapiens FAM21B pseudogene (FLJ31813), non-coding RNA.																		GGGGTGTCGAGAAAAAGtcgt	0.502000														21			11		0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25279520	25279520	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:25279520C>T	uc001isg.1	-	3	631	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	ENKUR_uc001ish.1_Missense_Mutation_p.E94K	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	Homo sapiens enkurin, TRPC channel interacting protein (ENKUR), mRNA.	156						cilium|flagellum	SH3 domain binding|calmodulin binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CATATGTATTCAGGTGTGACA	0.348000														55			6		0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24689314	24689314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:24689314C>T	uc003swx.3	+	4	653	c.354C>T	c.(352-354)atC>atT	p.I118I	MPP6_uc003swy.3_Silent_p.I118I	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	118					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ATTCTTCTATCAATAATCAGT	0.378000														83			29		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17692204	17692205	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:17692204_17692205CC>TT	uc002rcl.1	-	2	3370_3371	c.3346_3347GG>AA	c.(3346-3348)ggc>AAc	p.G1116N	RAD51AP2_uc010exn.1_Missense_Mutation_p.G1107N	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	1116	Interaction with RAD51.									endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCTTGAAATGCCATGTGGAAAG	0.322000														22			4		0	0	1	0	0
MYBPHL	343263	broad.mit.edu	37	1	109840830	109840831	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:109840830_109840831CC>GT	uc001dxk.1	-	1	244_245	c.194_195GG>AC	c.(193-195)cgg>cAC	p.R65H	MYBPHL_uc010ovh.1_Missense_Mutation_p.R65H|MYBPHL_uc001dxl.3_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	Homo sapiens myosin binding protein H-like (MYBPHL), mRNA.	65	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		CCCCAACCTTCCGGATGTAGGT	0.520000														126			24		0	0	1	0	0
ANXA2	302	broad.mit.edu	37	9	33624926	33624926	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:33624926G>A	uc010mjx.3	+	0	704	c.655G>A	c.(655-657)Gag>Aag	p.E219K	DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank|DJ439530_uc022bfr.1_5'Flank	NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	219					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	CATCATGACCGAGCGGAGCGT	0.468000														67			15		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120138561	120138561	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:120138561G>A	uc001txj.2	-	43	5668	c.5612C>T	c.(5611-5613)cCt>cTt	p.P1871L	CIT_uc001txh.2_Missense_Mutation_p.P1348L|CIT_uc001txi.2_Missense_Mutation_p.P1829L	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1829	CNH.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AAAGGCCAAAGGTAAGCGACT	0.547000														88			10		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63316460	63316460	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:63316460G>A	uc001xfx.3	-	7	1531	c.1480C>T	c.(1480-1482)Ctc>Ttc	p.L494F	KCNH5_uc001xfy.3_Missense_Mutation_p.L494F|KCNH5_uc001xfz.1_Missense_Mutation_p.L436F	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	494					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACCTGATAGAGTTTTAGGAAG	0.393000														105			42		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6305701	6305701	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:6305701C>T	uc003mwv.3	-	2	325	c.202G>A	c.(202-204)Gac>Aac	p.D68N	F13A1_uc011dib.2_Intron	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	68					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.T67N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCATACTTGTCAGTGTGGTGG	0.453000														62			14		0	0	1	0	0
SLC25A42	284439	broad.mit.edu	37	19	19206957	19206957	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19206957C>T	uc002nlf.2	+	1	180	c.24C>T	c.(22-24)ggC>ggT	p.G8G	SLC25A42_uc010xqn.1_Silent_p.G60G	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.	8					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TGAAGGAAGGCCCGGTGCGAT	0.612000														27			10		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128661	126128661	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:126128661G>A	uc001uhe.1	+	5	1470	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	TMEM132B_uc001uhf.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	488						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)		GAATGGGAAGGAAATGAAGAG	0.483000														62			22		0	0	1	0	0
TBCA	6902	broad.mit.edu	37	5	76989169	76989169	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:76989169G>A	uc003kfh.1	-	2	272	c.168C>T	c.(166-168)atC>atT	p.I56I	TBCA_uc003kfi.1_Silent_p.I56I	NM_004607	NP_004598	O75347	TBCA_HUMAN	Homo sapiens tubulin folding cofactor A (TBCA), mRNA.	56					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		ATTCTTGTAGGATCTCTGCCT	0.423000														47			6		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18322637	18322637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18322637C>T	uc010xqc.2	-	13	2203	c.1723G>A	c.(1723-1725)Gag>Aag	p.E575K	PDE4C_uc002nik.4_Missense_Mutation_p.E575K|PDE4C_uc002nil.4_Missense_Mutation_p.E575K|PDE4C_uc002nig.4_Missense_Mutation_p.E290K|PDE4C_uc002nih.4_Missense_Mutation_p.E345K|PDE4C_uc010ebk.3_Missense_Mutation_p.E469K|PDE4C_uc002nii.4_Missense_Mutation_p.E543K|PDE4C_uc002nif.4_Missense_Mutation_p.E344K|PDE4C_uc010ebl.3_Missense_Mutation_p.E289K	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	575					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GACTCACGCTCGCGGTCTCCC	0.627000														74			37		0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220099597	220099597	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220099597G>A	uc002vkg.3	+	9	1428	c.1254G>A	c.(1252-1254)gtG>gtA	p.V418V	ANKZF1_uc010zkv.1_3'UTR|ANKZF1_uc010zkw.1_3'UTR|ANKZF1_uc002vkh.3_Silent_p.V208V|ANKZF1_uc002vki.3_Silent_p.V418V|ANKZF1_uc002vkj.1_3'UTR	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA.	418						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGAGCTAGTGGAGTTGACTG	0.498000														64			17		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833228	24833228	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:24833228G>A	uc001iru.4	+	18	5432	c.5029G>A	c.(5029-5031)Gaa>Aaa	p.E1677K	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.E1360K|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.E513K	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1677					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TAAACAGCTCGAAAATACAAT	0.433000														60			24		0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81585035	81585035	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:81585035C>T	uc021ssh.1	+	10	1660	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Missense_Mutation_p.S520F|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.S562F|IL16_uc021ssg.1_Missense_Mutation_p.S520F|IL16_uc002bgg.3_Missense_Mutation_p.S520F|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.3_Missense_Mutation_p.S14F	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	520					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ATGTCTGGGTCCCCAGGGGGA	0.612000														69			9		0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189830	124189830	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124189830C>T	uc010sah.2	-	0	264	c.264G>A	c.(262-264)gaG>gaA	p.E88E		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		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;0.0525)		TAATGTTCTCCTCTGGAACAA	0.388000														49			21		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72233974	72233974	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:72233974G>A	uc003xyu.3	-	5	1053	c.413C>T	c.(412-414)tCa>tTa	p.S138L	EYA1_uc003xyt.4_Missense_Mutation_p.S105L|EYA1_uc003xyr.4_Missense_Mutation_p.S138L|EYA1_uc010lzf.3_Missense_Mutation_p.S65L|EYA1_uc003xys.4_Missense_Mutation_p.S138L|EYA1_uc011lfe.2_Missense_Mutation_p.S137L|EYA1_uc003xyv.3_Missense_Mutation_p.S21L	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	138					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTCACCATATGAGGAAATGCC	0.483000														35			12		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346988	89346988	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89346988G>A	uc002fmx.1	-	8	6423	c.5962C>T	c.(5962-5964)Ccc>Tcc	p.P1988S	ANKRD11_uc002fmy.1_Missense_Mutation_p.P1988S|ANKRD11_uc002fnc.1_Missense_Mutation_p.P1988S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P1945S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1988	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGGGACTCGGGGAATCTCTGT	0.692000														57			5		0	0	1	0	0
FOXA3	3171	broad.mit.edu	37	19	46375487	46375487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46375487G>A	uc002pdr.3	+	1	421	c.224G>A	c.(223-225)gGg>gAg	p.G75E		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	75					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GCCCCCCTGGGGCCCACTTTC	0.711000														42			11		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138378212	138378212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:138378212C>T	uc002tva.1	+	18	3625	c.3625C>T	c.(3625-3627)Ccc>Tcc	p.P1209S	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.R1209S(1)		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)		AATGAGCATTCCCTGCTTGGT	0.468000														135			70		0	0	1	0	0
DRAM1	55332	broad.mit.edu	37	12	102302023	102302023	+	Silent	SNP	C	T	T	rs61748065		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:102302023C>T	uc001tix.3	+	3	865	c.402C>T	c.(400-402)gtC>gtT	p.V134V	DRAM1_uc010svv.2_Intron	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN	Homo sapiens DNA-damage regulated autophagy modulator 1 (DRAM1), mRNA.	134					apoptosis|autophagy	integral to membrane|lysosomal membrane		p.V28V(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						TCTGTGGTGTCGTGTACACGC	0.498000														120			17		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64418966	64418966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64418966C>T	uc021qkw.1	-	13	3141	c.2679G>A	c.(2677-2679)atG>atA	p.M893I	NRXN2_uc021qkx.1_Missense_Mutation_p.M853I|NRXN2_uc001oas.3_Missense_Mutation_p.M853I|NRXN2_uc001oaq.3_Missense_Mutation_p.M560I	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	893	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGCACTGGTCCATGTAGGGCT	0.582000											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			12		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18705913	18705913	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:18705913C>T	uc003sui.3	+	10	1586	c.1545C>T	c.(1543-1545)gaC>gaT	p.D515D	HDAC9_uc003sue.3_Silent_p.D512D|HDAC9_uc011jyd.2_Silent_p.D512D|HDAC9_uc003suh.3_Silent_p.D512D|HDAC9_uc003suj.3_Silent_p.D471D|HDAC9_uc011jya.2_Silent_p.D510D|HDAC9_uc003sua.1_Silent_p.D490D|HDAC9_uc003sud.2_Silent_p.D512D|HDAC9_uc011jyc.2_Silent_p.D471D|HDAC9_uc011jyb.2_Silent_p.D468D|HDAC9_uc003suf.2_Silent_p.D543D|HDAC9_uc010kud.2_Silent_p.D515D|HDAC9_uc011jye.2_Silent_p.D484D|HDAC9_uc011jyf.2_Silent_p.D435D|HDAC9_uc010kue.1_Intron	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	512					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTCAGGGGGACCAGGCGATGC	0.537000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		150			39		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247768993	247768993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247768993C>T	uc010pyz.2	+	0	106	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTTCTTCTACCTCCTGACCCT	0.443000														176			68		0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1961051	1961051	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1961051G>A	uc001aip.2	+	7	1004	c.909G>A	c.(907-909)cgG>cgA	p.R303R		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	303						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCCTGCCACGGGCATCAGCCA	0.607000														39			9		0	0	1	0	0
HMG20A	10363	broad.mit.edu	37	15	77756657	77756657	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:77756657C>T	uc002bcr.3	+	3	366	c.165C>T	c.(163-165)ctC>ctT	p.L55L	HMG20A_uc002bcq.1_Silent_p.L55L|HMG20A_uc002bcs.3_Silent_p.L55L	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	Homo sapiens high mobility group 20A (HMG20A), mRNA.	55					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TGGAGGATCTCTCTCAAGGTC	0.448000														86			29		0	0	1	0	0
SERINC3	10955	broad.mit.edu	37	20	43142617	43142617	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43142617G>A	uc002xme.3	-	1	238	c.104C>T	c.(103-105)tCc>tTc	p.S35F	SERINC3_uc002xmf.1_Missense_Mutation_p.S35F|SERINC3_uc010ggs.1_Missense_Mutation_p.S28F|SERINC3_uc010zwp.1_5'UTR	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Homo sapiens serine incorporator 3 (SERINC3), transcript variant 2, mRNA.	35						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			AGTCACCGTGGAATTCTTACT	0.478000														91			34		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200974	132200974	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:132200974G>A	uc002tst.2	-	0	1494	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		GATGGGCTTGGAGCTCATGCG	0.612000														20			9		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43749275	43749275	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43749275G>A	uc001zrs.3	-	11	1664	c.1516C>T	c.(1516-1518)Cta>Tta	p.L506L	TP53BP1_uc010udp.2_Silent_p.L506L|TP53BP1_uc001zrq.4_Silent_p.L511L|TP53BP1_uc001zrr.4_Silent_p.L511L|TP53BP1_uc010udq.1_Silent_p.L511L	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	506					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTCAAAGATAGCCCAAGATCC	0.403000								Other conserved DNA damage response genes						70			25		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107407872	107407872	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:107407872C>T	uc004enw.4	-	39	4133	c.4030G>A	c.(4030-4032)Gac>Aac	p.D1344N	COL4A6_uc004env.4_Missense_Mutation_p.D1343N|COL4A6_uc011msn.2_Missense_Mutation_p.D1319N|COL4A6_uc010npk.3_Intron	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1344	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						AATCCTGGGTCTCCAGGTGGC	0.597000									Alport syndrome with Diffuse Leiomyomatosis					43			62		0	0	1	0	0
C1orf114	57821	broad.mit.edu	37	1	169394126	169394126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169394126C>T	uc001gga.1	-	1	208	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	C1orf114_uc001gfz.1_Missense_Mutation_p.E14K|C1orf114_uc009wvq.1_Missense_Mutation_p.E14K|C1orf114_uc001ggb.3_Missense_Mutation_p.E14K|C1orf114_uc001ggc.1_Missense_Mutation_p.E14K	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	14										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TCTTCGTATTCTTCACTTTTC	0.308000														62			25		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118629401	118629401	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:118629401G>A	uc001ehk.2	-	11	1572	c.1504C>T	c.(1504-1506)Cat>Tat	p.H502Y		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	502						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AATATGTCATGAAGATTCTAT	0.388000														88			35		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30976046	30976046	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:30976046G>A	uc021vfn.1	-	8	992	c.960C>T	c.(958-960)ttC>ttT	p.F320F	CAPN13_uc021vfm.1_Silent_p.F320F|CAPN13_uc002rnp.1_Silent_p.F320F	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	320	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ATTTCTGTTGGAAATCTTGAC	0.448000														97			30		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159784074	159784074	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159784074G>A	uc001fud.4	+	7	1181	c.1139G>A	c.(1138-1140)aGg>aAg	p.R380K	FCRL6_uc001fuc.2_Missense_Mutation_p.R387K|FCRL6_uc009wsz.1_Missense_Mutation_p.R285K|FCRL6_uc009wta.3_Missense_Mutation_p.R380K	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	380						integral to membrane		p.R380R(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					ACCTCAAAGAGGAGTGAAGGT	0.438000														45			23		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32811801	32811801	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:32811801C>T	uc001utx.3	+	43	6592	c.6096C>T	c.(6094-6096)tcC>tcT	p.S2032S	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2032					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGGACCCATCCCACATAAACC	0.498000														27			7		0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31656616	31656616	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31656616G>A	uc002wym.1	+	9	986	c.986G>A	c.(985-987)gGg>gAg	p.G329E		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	329					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										CAGGCCCTGGGGAAGCTGCCC	0.582000														47			15		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626122	142626122	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142626122G>A	uc003wby.1	-	4	845	c.581C>T	c.(580-582)tCc>tTc	p.S194F	TRPV5_uc003wbz.3_Missense_Mutation_p.S194F	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	194					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTTACCCAGGGAGTCCTGGGC	0.612000														30			14		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11078587	11078587	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:11078587C>T	uc010hdq.3	+	15	2146	c.1735C>T	c.(1735-1737)Cgc>Tgc	p.R579C		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	579					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	AGACATCGTTCGCCCAGAGAA	0.637000														72			29		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94502778	94502778	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94502778G>A	uc001dqh.3	-	24	3840	c.3736C>T	c.(3736-3738)Ctt>Ttt	p.L1246F		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1246					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)		TCTCTGAAAAGGCTGGCATAT	0.483000														110			16		0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10479767	10479767	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:10479767C>T	uc001arc.3	+	12	1503	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G	PGD_uc010oak.2_Silent_p.G449G	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	471					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		ACTGGACAGGCCATGGTGGCA	0.547000														117			16		0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105609479	105609479	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105609479G>A	uc001yqg.3	-	25	3674	c.3270C>T	c.(3268-3270)gcC>gcT	p.A1090A	JAG2_uc001yqf.3_Silent_p.A494A|JAG2_uc001yqh.3_Silent_p.A1052A	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	1090					Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCACGCTGAAGGCACCACACA	0.692000														37			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064667	9064667	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9064667G>A	uc002mkp.3	-	2	22983	c.22779C>T	c.(22777-22779)tcC>tcT	p.S7593S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7595	Ser-rich.|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						GTGACATTGTGGACTGCTCAG	0.488000														80			35		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104512146	104512146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:104512146G>A	uc004elz.1	+	4	1375	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	207	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						AGTTCAAGAAGAAGATGGAGG	0.333000														26			20		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786416	121786416	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:121786416G>A	uc003ksw.1	+	9	2080	c.1874G>A	c.(1873-1875)gGa>gAa	p.G625E	SNCAIP_uc011cwl.1_Missense_Mutation_p.G183E|SNCAIP_uc003ksy.1_Missense_Mutation_p.G259E|SNCAIP_uc003ksx.1_Missense_Mutation_p.G672E|SNCAIP_uc003ksz.1_Missense_Mutation_p.G259E|SNCAIP_uc010jcu.2_Missense_Mutation_p.G221E|SNCAIP_uc011cwm.1_Missense_Mutation_p.G259E|SNCAIP_uc003kta.1_Missense_Mutation_p.G257E|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.G319E|SNCAIP_uc010jcx.1_Missense_Mutation_p.G565E|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.G141E	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	625					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAGTTATTGGGAAAGGAAATC	0.458000														59			23		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48598515	48598515	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48598515C>T	uc010wmr.2	+	7	1252	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	327					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CACCTGGGATCGGAGTCTGTT	0.567000														20			10		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679883	100679883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100679883C>T	uc003uxp.1	+	2	5239	c.5186C>T	c.(5185-5187)tCa>tTa	p.S1729L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1729	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCCGTTCATCTCCTACA	0.507000														451			159		0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179597799	179597800	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:179597799_179597800GG>AA	uc003fki.1	-	4	552_553	c.422_423CC>TT	c.(421-423)gcc>gTT	p.A141V	PEX5L_uc011bqd.1_Missense_Mutation_p.A98V|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Intron|PEX5L_uc003fkj.1_Missense_Mutation_p.A106V|PEX5L_uc010hxd.1_Missense_Mutation_p.A139V|PEX5L_uc011bqg.1_Missense_Mutation_p.A117V|PEX5L_uc011bqh.1_Missense_Mutation_p.A82V	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	141					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAGATCCATCGGCCTTTTTCTT	0.520000														74			19		0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45923603	45923603	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:45923603C>T	uc001nbr.3	+	3	920	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	199	JNK-binding domain (JBD).				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		ATCCTCACCCCTGAAGACAGG	0.532000														100			74		0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101608912	101608912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:101608912G>A	uc003yjr.3	-	9	1084	c.933C>T	c.(931-933)atC>atT	p.I311I	SNX31_uc011lha.2_Silent_p.I106I|SNX31_uc011lhb.2_Silent_p.I212I	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	311					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TCTGGAAAACGATGTCCTGGG	0.507000														79			21		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621418	65621418	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65621418G>A	uc002aos.2	-	13	2526	c.2274C>T	c.(2272-2274)ggC>ggT	p.G758G	IGDCC3_uc002aor.1_Silent_p.G44G	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	758										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCCATCAGGCCGCACCCCT	0.706000														3			11		0	0	1	0	0
ASL	435	broad.mit.edu	37	7	65557757	65557757	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:65557757C>T	uc003tup.3	+	15	1488	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	ASL_uc003tuo.3_Missense_Mutation_p.P418L|ASL_uc003tur.3_Missense_Mutation_p.P392L|ASL_uc003tuq.3_Missense_Mutation_p.P398L	NM_001024943	NP_001020114	P04424	ARLY_HUMAN	Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA.	418					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CTCCCCAGCCCCCTGTTCTCG	0.687000														129			42		0	0	1	0	0
IFLTD1	160492	broad.mit.edu	37	12	25702421	25702421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:25702421G>A	uc010sji.1	-	2	394	c.149C>T	c.(148-150)tCa>tTa	p.S50L	IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc001rgs.2_Missense_Mutation_p.S29L|IFLTD1_uc010sjj.2_Intron|IFLTD1_uc009zjc.2_Missense_Mutation_p.S50L	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.	29						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TGTGGCAACTGAACCCAACAT	0.333000														94			25		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147203	26147203	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:26147203C>T	uc002dof.3	+	1	1397	c.1005C>T	c.(1003-1005)atC>atT	p.I335I		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	335					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAATAGGGATCTATGCGCTGC	0.552000														166			80		0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839532	27839532	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:27839532G>A	uc022bud.1	+	0	109	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	MAGEB10_uc004dbw.3_Missense_Mutation_p.E37K	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	37								p.E37*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AGAGGAGGAAGAATCTCCCCC	0.517000														17			19		0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661107	4661107	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4661107C>T	uc010qyk.2	+	0	163	c.87C>T	c.(85-87)atC>atT	p.I29I		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTGGGTATCCCTGGCCTGG	0.507000														95			38		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94740655	94740655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94740655G>A	uc003unp.3	+	2	1762	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	PPP1R9A_uc010lfj.3_Missense_Mutation_p.E494K|PPP1R9A_uc011kif.2_Missense_Mutation_p.E494K|PPP1R9A_uc003unq.3_Missense_Mutation_p.E494K|PPP1R9A_uc011kig.2_Missense_Mutation_p.E494K	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	494	Interacts with protein phosphatase 1 (By similarity).					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)			GTATGAACTTGAAAAACGTGT	0.403000										HNSCC(28;0.073)				45			18		0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95423541	95423541	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:95423541G>A	uc003ygk.3	-	3	438	c.307C>T	c.(307-309)Cat>Tat	p.H103Y	RAD54B_uc010may.2_5'UTR|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	p.H103D(2)|p.V102A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GGAGCCGAATGAACTACAATT	0.313000								Direct reversal of damage;Homologous recombination						39			26		0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42853634	42853634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:42853634C>T	uc010skv.2	-	7	2760	c.2473G>A	c.(2473-2475)Ggc>Agc	p.G825S	PRICKLE1_uc001rnl.3_Missense_Mutation_p.G825S|PRICKLE1_uc010skw.2_Missense_Mutation_p.G825S|PRICKLE1_uc001rnm.3_Missense_Mutation_p.G825S|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	825					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CAATTTTTGCCCTTGTGTCCC	0.403000														192			49		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576383	33576383	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:33576383G>A	uc003jia.1	-	18	3911	c.3748C>T	c.(3748-3750)Cct>Tct	p.P1250S	ADAMTS12_uc010iuq.1_Missense_Mutation_p.P1165S	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1250	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L1249L(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCTCCCAGAGGGAGCAGAGTG	0.522000										HNSCC(64;0.19)				144			48		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17682618	17682618	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17682618G>A	uc001baj.2	+	11	1479	c.1451G>A	c.(1450-1452)aGg>aAg	p.R484K		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	484					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GCACCCGACAGGAAGGTACAG	0.592000														46			14		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587813	247587813	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247587813G>A	uc001icr.3	+	4	1206	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E	NLRP3_uc001ics.3_Silent_p.E356E|NLRP3_uc001icu.3_Silent_p.E356E|NLRP3_uc001icw.3_Silent_p.E356E|NLRP3_uc001icv.3_Silent_p.E356E|NLRP3_uc010pyw.2_Silent_p.E354E|NLRP3_uc001ict.1_Silent_p.E354E	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	356	NACHT.		E -> D (in CINCA).		detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGGCCCTGGAGAAACTGCAGC	0.552000														76			23		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238053390	238053390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:238053390C>T	uc001hym.3	-	1	549	c.262G>A	c.(262-264)Gag>Aag	p.E88K	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	88					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)			TAGGTTGCCTCCAACACCACG	0.582000														88			38		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044681	56044681	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:56044681C>T	uc003pcs.3	-	2	567	c.335G>A	c.(334-336)gGa>gAa	p.G112E	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.G112E|COL21A1_uc003pcu.1_Missense_Mutation_p.G112E	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	112	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G112R(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTGTGTTTCCTCCTAAGTA	0.468000														34			17		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187003942	187003942	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187003942C>T	uc003iyq.3	+	3	1203	c.1102C>T	c.(1102-1104)Cca>Tca	p.P368S	TLR3_uc011ckz.2_Missense_Mutation_p.P91S|TLR3_uc003iyr.3_Missense_Mutation_p.P91S	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	368					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TAATGATATTCCAGGCATAAA	0.343000														36			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203019	140203019	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140203019C>T	uc003lhl.2	+	0	1659	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F	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_uc003lhk.1_Silent_p.F553F|PCDHAC2_uc003lhj.1_Silent_p.F553F	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	568	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTGTTCGTGCTGGACG	0.706000														77			31		0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132298345	132298345	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:132298345G>A	uc003eov.4	-	13	2059	c.1679C>T	c.(1678-1680)tCt>tTt	p.S560F	NPHP3_uc011blr.1_Missense_Mutation_p.S171F	NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTGGAGAGAGAAGTATTTTG	0.373000														79			17		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111090583	111090583	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:111090583T>G	uc004epl.1	-	5	2378	c.1459A>C	c.(1459-1461)Att>Ctt	p.I487L	TRPC5_uc004epm.1_Missense_Mutation_p.I487L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	487					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAACTTAAAATGTTGGATATT	0.463000														28			20		0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208133	106208133	+	Splice_Site	SNP	C	T	T	rs1803800		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106208133C>T	uc001yse.3	-	5	715	c.269_splice	c.e5-1	p.G90_splice	abParts_uc021ser.1_Splice_Site|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		CGGGGCTGCCCTGTAGGGACA	0.642000														178			59		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698997	17698997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:17698997G>A	uc002rcl.1	-	0	710	c.686C>T	c.(685-687)tCa>tTa	p.S229L	RAD51AP2_uc010exn.1_Missense_Mutation_p.S220L	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	229										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TAGTACAGATGATGAAATGTT	0.338000														69			17		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94888394	94888394	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:94888394G>A	uc002btj.3	+	7	1070	c.1005_splice	c.e7+1	p.K335_splice	MCTP2_uc010urg.1_Splice_Site_p.K335_splice|MCTP2_uc002bti.2_Splice_Site_p.K335_splice|MCTP2_uc010boj.3_Splice_Site_p.K64_splice|MCTP2_uc010bok.3_Splice_Site_p.K335_splice	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	335					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGCCAGCAAGGTAAATATACT	0.338000														55			8		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220348866	220348866	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220348866G>A	uc010fwg.3	+	29	6681	c.6681G>A	c.(6679-6681)aaG>aaA	p.K2227K		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2227	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GAGCCTCCAAGCCTGCACCAC	0.667000														54			13		0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84780088	84780088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:84780088C>T	uc010fgb.3	+	9	1669	c.1532C>T	c.(1531-1533)cCc>cTc	p.P511L	DNAH6_uc002soo.3_Missense_Mutation_p.P90L|DNAH6_uc002sop.3_Missense_Mutation_p.P90L	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	511	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TCTCTCATCCCCATGTTTCTC	0.398000														121			33		0	0	1	0	0
TRIM4	89122	broad.mit.edu	37	7	99489896	99489896	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99489896C>T	uc003usd.3	-	6	1592	c.1393G>A	c.(1393-1395)Gga>Aga	p.G465R	TRIM4_uc003use.3_Missense_Mutation_p.G439R|TRIM4_uc011kjc.2_Missense_Mutation_p.G295R	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	465	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				AGGTGCACTCCGTCCACAGCG	0.537000														126			60		0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77702315	77702316	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:77702315_77702316GG>AA	uc001oys.3	-	1	112_113	c.84_85CC>TT	c.(82-87)ctccga>ctTTga	p.R29*	INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Nonsense_Mutation_p.R29*|INTS4_uc001oyv.1_Non-coding_Transcript	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	29					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)			TTTGTTAGTCGGAGTTTCTTAG	0.426000														97			44		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51923199	51923199	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:51923199C>T	uc003pah.1	-	15	1710	c.1434G>A	c.(1432-1434)ctG>ctA	p.L478L	PKHD1_uc003pai.3_Silent_p.L478L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	478					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CATCAGGATTCAGCCAGGTGT	0.552000														101			40		0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	87917351	87917351	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:87917351G>A	uc003ydy.2	+	2	249	c.201G>A	c.(199-201)atG>atA	p.M67I		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	67										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						ATACATTTATGAAGCAATATC	0.358000														24			8		0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869802	52869802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52869802C>T	uc002pyx.4	+	5	1577	c.1171C>T	c.(1171-1173)Ctt>Ttt	p.L391F	ZNF610_uc002pyy.4_Missense_Mutation_p.L391F|ZNF610_uc002pyz.4_Missense_Mutation_p.L348F|ZNF610_uc002pza.3_Missense_Mutation_p.L391F	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H390N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TATGGCCCATCTTCTAATCCA	0.413000														71			21		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21122984	21122984	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21122984G>A	uc010vbe.2	-	13	2062	c.2062C>T	c.(2062-2064)Caa>Taa	p.Q688*	DNAH3_uc002die.2_Nonsense_Mutation_p.Q628*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	688	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTTGGAATTGAATCAGATGG	0.433000														95			27		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101565044	101565044	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:101565044G>A	uc002bwr.3	+	15	2423	c.2104G>A	c.(2104-2106)Gga>Aga	p.G702R	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	702	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGACATCGGGGGACCGGCCAG	0.582000														213			38		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56485099	56485099	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56485099G>A	uc002qmh.3	+	6	2687	c.2616G>A	c.(2614-2616)ctG>ctA	p.L872L	NLRP8_uc010etg.3_Silent_p.L853L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	872						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGACCCACCTGAGCTTGGCAG	0.517000														175			70		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3085322	3085322	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:3085322C>T	uc003bpc.3	+	22	3084	c.2745C>T	c.(2743-2745)tcC>tcT	p.S915S	CNTN4_uc021wsg.1_Silent_p.S915S|CNTN4_uc003bpe.3_Silent_p.S587S|CNTN4_uc003bpf.3_Silent_p.S586S|CNTN4_uc003bpg.3_Silent_p.S171S	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	915	Fibronectin type-III 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CATCAGACTCCAAAATTATCC	0.368000														67			23		0	0	1	0	0
AP3M2	10947	broad.mit.edu	37	8	42015560	42015560	+	Silent	SNP	C	T	T	rs113481990		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:42015560C>T	uc003xop.3	+	3	666	c.375C>T	c.(373-375)acC>acT	p.T125T	AP3M2_uc003xoo.3_Silent_p.T125T|AP3M2_uc010lxe.3_Non-coding_Transcript|AP3M2_uc003xoq.2_Silent_p.T10T	NM_001134296	NP_006794	P53677	AP3M2_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA.	125					intracellular protein transport|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			CATTGGCTACCGAGTCGAACA	0.428000														114			15		0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80550833	80550833	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:80550833G>A	uc003khc.4	+	5	711	c.469G>A	c.(469-471)Gag>Aag	p.E157K	RNU5E-1_uc011cto.1_Intron|CKMT2_uc010jaq.3_Missense_Mutation_p.E157K|CKMT2_uc003khd.4_Missense_Mutation_p.E157K|LOC100131067_uc003khe.2_Intron|LOC100131067_uc003khf.2_Intron|LOC100131067_uc003khg.2_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric) (CKMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	157					creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	p.D156N(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GCAGTTCGACGAGCATTACGT	0.637000														63			31		0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105797580	105797580	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:105797580C>T	uc001pix.2	+	12	2407	c.1961C>T	c.(1960-1962)cCc>cTc	p.P654L	GRIA4_uc001piw.2_Missense_Mutation_p.P654L	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	654					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.P654L(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATGGTCTCTCCCATAGAAAGT	0.418000														52			14		0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120197765	120197765	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:120197765G>A	uc002tma.3	-	12	1477	c.1251C>T	c.(1249-1251)gcC>gcT	p.A417A	SCTR_uc002tlz.3_Silent_p.A239A	NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	417					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	TGCTGAAGGAGGCCACGGGGT	0.637000														25			5		0	0	1	0	0
WFDC2	10406	broad.mit.edu	37	20	44108722	44108722	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44108722C>T	uc002xoo.3	+	2	392	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	WFDC2_uc002xoq.3_Non-coding_Transcript|WFDC2_uc002xop.3_Missense_Mutation_p.P74S|WFDC2_uc002xor.3_Missense_Mutation_p.P71S	NM_006103	NP_006094	Q14508	WFDC2_HUMAN	Homo sapiens WAP four-disulfide core domain 2 (WFDC2), mRNA.	122	WAP 2.				proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				CTGTGTCACTCCCAATTTCTG	0.572000														110			31		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800866	185800866	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:185800866G>A	uc002uph.3	+	3	1337	c.743G>A	c.(742-744)aGa>aAa	p.R248K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	248						intracellular	zinc ion binding	p.R248I(2)|p.S247N(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGATTTAGCAGAAAAAGTAGA	0.428000														138			45		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33916036	33916036	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:33916036G>A	uc001zhi.3	+	19	2456	c.2386G>A	c.(2386-2388)Gga>Aga	p.G796R	RYR3_uc010bar.3_Missense_Mutation_p.G796R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	796	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGACGTCATGGAGAGTTTAA	0.403000														103			12		0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35550838	35550838	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35550838C>T	uc002nxq.2	+	6	596	c.351C>T	c.(349-351)ttC>ttT	p.F117F	HPN_uc002nxr.2_Silent_p.F117F|HPN_uc010xsh.1_Silent_p.F86F|HPN_uc002nxt.1_5'UTR|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	117	SRCR.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CGTCGGGCTTCTTCTGTGTGG	0.697000														13			6		0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69652866	69652866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:69652866C>T	uc001sut.4	+	5	1301	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	CPSF6_uc001suu.4_Silent_p.P434P|CPSF6_uc010stk.2_Silent_p.P28P	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	397	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ACTATGGCCCCCCTGGAAGGT	0.418000														77			10		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107012559	107012559	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:107012559C>T	uc001kyi.1	+	22	3359	c.3132C>T	c.(3130-3132)atC>atT	p.I1044I	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1044						integral to membrane	neuropeptide receptor activity	p.I1044I(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGGACCAGATCCTCATTGCCG	0.527000														98			46		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41648155	41648155	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41648155C>T	uc002yyq.1	-	10	2677	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	742	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AACTTGGATTCGGCCATTTAG	0.512000														39			27		0	0	1	0	0
TRIM40	135644	broad.mit.edu	37	6	30105149	30105149	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30105149C>T	uc003npk.2	+	1	722	c.336C>T	c.(334-336)agC>agT	p.S112S	TRIM40_uc003npm.2_Silent_p.S112S	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	Homo sapiens tripartite motif containing 40 (TRIM40), mRNA.	112						intracellular	zinc ion binding			ovary(1)	1						ATGCCCTCAGCCACTACAAGG	0.547000														82			11		0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122281721	122281721	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:122281721C>T	uc001ubj.3	-	11	889	c.849G>A	c.(847-849)gaG>gaA	p.E283E	HPD_uc001ubk.3_Silent_p.E244E	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	283					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	CCAGGCCTCTCTCTCTCAAGT	0.532000														39			23		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20625847	20625847	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:20625847G>A	uc001mqd.3	+	2	829	c.556G>A	c.(556-558)Gat>Aat	p.D186N	SLC6A5_uc009yic.3_Intron	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	186					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CGAGCAAGGGGATGAGAATAA	0.607000														112			44		0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31653928	31653928	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:31653928C>T	uc001mtc.3	+	6	938	c.903C>T	c.(901-903)atC>atT	p.I301I	ELP4_uc001mtb.3_Silent_p.I301I|ELP4_uc010rdz.2_Silent_p.I302I			Q96EB1	ELP4_HUMAN	Homo sapiens elongation protein 4 homolog (S. cerevisiae) (ELP4), mRNA.	301					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|cytoplasm|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CCTGCATCATCACAATGCCAA	0.398000														74			43		0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170503	58170503	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:58170503G>A	uc010rkf.2	-	0	380	c.380C>T	c.(379-381)cCc>cTc	p.P127L		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTAATGTAGGGGTTTGCACAC	0.498000														104			46		0	0	1	0	0
TMEM207	131920	broad.mit.edu	37	3	190147432	190147432	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:190147432G>A	uc003fsj.2	-	4	460	c.393C>T	c.(391-393)ggC>ggT	p.G131G		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	Homo sapiens transmembrane protein 207 (TMEM207), mRNA.	131						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		AGCCTAAAGGGCCAAAACATG	0.408000														88			18		0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598400	49598400	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:49598400C>T	uc010rhy.2	+	1	991	c.513C>T	c.(511-513)tcC>tcT	p.S171S	LOC440040_uc009ymb.3_Silent_p.S171S					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		AGGCAAGGTCCATGGTGGACA	0.443000														26			35		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178410064	178410064	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178410064G>A	uc003mjr.3	-	8	2462	c.2283C>T	c.(2281-2283)ctC>ctT	p.L761L	GRM6_uc003mjq.3_Silent_p.L164L	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	761					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ACGTGACCATGAGCAGGAGGC	0.622000														74			24		0	0	1	0	0
SLC36A3	285641	broad.mit.edu	37	5	150666980	150666980	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:150666980C>T	uc003ltx.2	-	6	1077	c.658G>A	c.(658-660)Gag>Aag	p.E220K	SLC36A3_uc003ltv.2_Missense_Mutation_p.E164K|SLC36A3_uc003ltw.2_Missense_Mutation_p.E179K	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	179						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCAGAATCTCCCTGGGCTGG	0.507000														67			7		0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846378	47846378	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:47846378G>A	uc011dwm.2	-	2	2236	c.2202C>T	c.(2200-2202)ttC>ttT	p.F734F	PTCHD4_uc011dwn.2_Silent_p.F481F	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	734						integral to membrane	hedgehog receptor activity										ATACAAATGTGAAAAGCAGTG	0.403000														21			9		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107113782	107113782	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:107113782G>A	uc001tlt.3	+	11	1350	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.E395K|RFX4_uc001tls.3_Missense_Mutation_p.E404K|RFX4_uc001tlv.3_Missense_Mutation_p.E301K	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	395	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GTCTCCCATCGAGTCCTACAT	0.527000														76			31		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124761637	124761637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124761637C>T	uc001qbg.3	-	10	1749	c.1609G>A	c.(1609-1611)Gac>Aac	p.D537N	ROBO4_uc010sas.2_Missense_Mutation_p.D392N|ROBO4_uc001qbh.2_Missense_Mutation_p.D427N|ROBO4_uc001qbi.3_Missense_Mutation_p.D95N|ROBO4_uc010sat.1_Missense_Mutation_p.D95N	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	537					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTGCTCAGGTCCCGAGAGCCA	0.647000														32			16		0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82625885	82625885	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:82625885C>T	uc001ozt.3	+	2	349	c.105C>T	c.(103-105)gtC>gtT	p.V35V	C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_5'UTR|C11orf82_uc009yvd.2_Silent_p.V35V	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	35					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TAATCCTGGTCTCCAAAAGGT	0.393000														39			13		0	0	1	0	0
FAM180A	389558	broad.mit.edu	37	7	135419000	135419000	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:135419000G>A	uc003vtd.3	-	2	511	c.245C>T	c.(244-246)tCc>tTc	p.S82F	FAM180A_uc010lmt.3_Non-coding_Transcript|FAM180A_uc010lmu.2_Missense_Mutation_p.S82F	NM_205855	NP_995327	Q6UWF9	F180A_HUMAN	Homo sapiens family with sequence similarity 180, member A (FAM180A), mRNA.	82						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						CTTCCGCAAGGAGGCCAGCTC	0.577000														97			44		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167240194	167240194	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:167240194C>T	uc003fev.1	-	11	1931	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	WDR49_uc003feu.1_Missense_Mutation_p.E368K|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	543										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AAAGAAATTTCCTTTTGAATC	0.318000														28			49		0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18250623	18250623	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:18250623G>C	uc001ipo.2	+	2	648	c.375G>C	c.(373-375)caG>caC	p.Q125H	SLC39A12_uc001ipn.2_Missense_Mutation_p.Q125H|SLC39A12_uc001ipp.2_Missense_Mutation_p.Q125H|SLC39A12_uc010qck.1_5'UTR	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	125					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.H124Q(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTATTCATCAGGAAGAGATCT	0.383000														70			28		0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8692525	8692525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8692525G>A	uc001quo.1	-	1	221	c.56C>T	c.(55-57)tCc>tTc	p.S19F		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	19						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					GAACATTTGGGAAGAGAAGCA	0.403000														144			38		0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183196718	183196718	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:183196718G>A	uc001gqa.2	+	9	1668	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	LAMC2_uc001gpz.4_Missense_Mutation_p.D452N|LAMC2_uc010poa.2_Missense_Mutation_p.D152N	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	452	Laminin EGF-like 5.				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						TTTCTACAACGATCCGCACGA	0.557000														141			61		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531592	50531592	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50531592A>T	uc021pqb.1	+	0	1002	c.1002A>T	c.(1000-1002)gaA>gaT	p.E334D	C10orf71_uc021pqa.1_Missense_Mutation_p.E333D|C10orf71_uc021pqc.1_Missense_Mutation_p.E334D	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	334										endometrium(1)	1						GCAGTCAGGAAGAGAACAGAC	0.582000														54			11		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123848171	123848171	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123848171C>T	uc001pzm.1	-	0	228	c.228G>A	c.(226-228)ctG>ctA	p.L76L		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGAGGTGCCCCAGGAAGTGGT	0.547000														36			12		0	0	1	0	0
TNP2	7142	broad.mit.edu	37	16	11363045	11363045	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:11363045G>A	uc002das.3	-	0	116	c.75C>T	c.(73-75)acC>acT	p.T25T	RMI2_uc002daq.1_Intron	NM_005425	NP_005416	Q05952	STP2_HUMAN	Homo sapiens transition protein 2 (during histone to protamine replacement) (TNP2), mRNA.	25					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						GGCGGGTGCAGGTGCGGCTTT	0.632000														154			38		0	0	1	0	0
MED9	55090	broad.mit.edu	37	17	17394729	17394729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:17394729C>T	uc002grh.1	+	1	417	c.361C>T	c.(361-363)Ctc>Ttc	p.L121F		NM_018019	NP_060489	Q9NWA0	MED9_HUMAN	Homo sapiens mediator complex subunit 9 (MED9), mRNA.	121					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCTGCAGAGCCTCCGGGAGCA	0.557000														53			30		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	657217	657217	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:657217C>T	uc001qii.1	+	7	735	c.735C>T	c.(733-735)ttC>ttT	p.F245F	B4GALNT3_uc001qij.1_Silent_p.F147F	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	245						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGTACTACTTCGAGGTGCTGC	0.642000														36			20		0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27840182	27840182	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:27840182G>A	uc022bud.1	+	0	759	c.759G>A	c.(757-759)gtG>gtA	p.V253V	MAGEB10_uc004dbw.3_Silent_p.V253V	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	253	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AAGATTTGGTGAAAGAAAATT	0.478000														26			5		0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109730818	109730818	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:109730818G>A	uc021orb.1	+	8	1282	c.1061G>A	c.(1060-1062)tGg>tAg	p.W354*	KIAA1324_uc009wex.2_Nonsense_Mutation_p.W304*|KIAA1324_uc010ovg.2_Nonsense_Mutation_p.W252*|KIAA1324_uc009wey.3_Nonsense_Mutation_p.W267*|KIAA1324_uc001dwr.3_Nonsense_Mutation_p.W4*	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	354					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		ATGTACAAATGGGCCAAGCCG	0.532000														90			33		0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42577678	42577678	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42577678G>A	uc003clf.2	+	12	1403	c.1279G>A	c.(1279-1281)Ggc>Agc	p.G427S	VIPR1_uc021wwl.1_Missense_Mutation_p.G386S|VIPR1_uc011azn.2_Missense_Mutation_p.G400S|VIPR1_uc011azl.1_Missense_Mutation_p.G379S|VIPR1_uc011azm.1_Missense_Mutation_p.G217S|VIPR1_uc003clg.2_Missense_Mutation_p.G72S	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	427					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		AGGCAGCAACGGCGCCACGTG	0.692000														13			3		0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387758	46387758	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46387758G>A	uc002pds.1	-	0	1619	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 1 (IRF2BP1), mRNA.	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CATTCTTCAGGGCGGCAATGG	0.711000														37			14		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107062171	107062171	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:107062171C>T	uc021ser.1	-	150		c.6815G>A								Parts of antibodies, mostly variable regions.																		GGTCACAGAGCTCAGCTTCAG	0.542000														168			51		0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12186665	12186665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12186665G>A	uc002mtb.2	+	3	873	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	ZNF844_uc010dym.1_Missense_Mutation_p.E87K	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TCAAATACATGAAAGAACTCA	0.373000														35			9		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55002508	55002508	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:55002508C>T	uc003dhf.3	+	27	2529	c.2481C>T	c.(2479-2481)ttC>ttT	p.F827F	CACNA2D3_uc003dhg.1_Silent_p.F733F|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	827						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTGAATTTTTCCAAAGGAAGT	0.368000														14			4		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844591	123844591	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:123844591C>T	uc001lfv.3	+	3	2936	c.2576C>T	c.(2575-2577)tCt>tTt	p.S859F	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.S859F|TACC2_uc010qtv.2_Missense_Mutation_p.S859F	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	859						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)				AAAGAGACTTCTCCAAGCCAT	0.512000														88			41		0	0	1	0	0
ACTR3C	653857	broad.mit.edu	37	7	149986573	149986573	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149986573G>A	uc003wgu.2	-	3	453	c.263C>T	c.(262-264)cCt>cTt	p.P88L	ACTR3C_uc022aps.1_Missense_Mutation_p.P88L	NM_001164459	NP_001157931	Q9C0K3	ARP3C_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog C (yeast) (ACTR3C), transcript variant 2, mRNA.	88					regulation of actin filament polymerization	cytoskeleton	ATP binding|actin binding										TGACTGCTCAGGAGGGATTCC	0.483000														20			4		0	0	1	0	0
TAF8	129685	broad.mit.edu	37	6	42034064	42034064	+	Silent	SNP	C	T	T	rs80150955	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:42034064C>T	uc003ort.3	+	5	533	c.504C>T	c.(502-504)ccC>ccT	p.P168P	TAF8_uc003ors.3_Silent_p.P168P|TAF8_uc003oru.1_Silent_p.P168P|TAF8_uc003orv.1_Silent_p.P168P|TAF8_uc011dun.2_Silent_p.P105P			Q7Z7C8	TAF8_HUMAN	Homo sapiens TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa (TAF8), mRNA.	168					cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			ACCGTGAGCCCGTGTCAGACT	0.577000														32			15		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120906771	120906771	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:120906771C>T	uc003vjq.4	+	19	2989	c.2542C>T	c.(2542-2544)Cta>Tta	p.L848L		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	848						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					ATCACGTCCCCTAGAGAATAC	0.403000														97			29		0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150715528	150715528	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150715528G>A	uc011kvc.2	-	6	1801	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	575					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTCCGGAATGAAAGACCTGA	0.677000											OREG0018444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			11		0	0	1	0	0
HCAR1	27198	broad.mit.edu	37	12	123214634	123214634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:123214634C>T	uc001ucz.3	-	0	496	c.253G>A	c.(253-255)Gac>Aac	p.D85N	HCAR1_uc001ucw.1_Non-coding_Transcript	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.	85					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						CAGGGAATGTCCCCAAAAGCC	0.527000														28			14		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82816544	82816544	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:82816544G>A	uc003kii.3	+	6	2775	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E807K|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	807	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.E807K(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GTCATGGGATGAAGATAATAC	0.413000														97			15		0	0	1	0	0
EXOSC7	23016	broad.mit.edu	37	3	45030635	45030635	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:45030635G>A	uc003coi.2	+	1	90	c.61G>A	c.(61-63)Gac>Aac	p.D21N	EXOSC7_uc003coh.1_5'UTR|EXOSC7_uc011bae.2_Missense_Mutation_p.D21N|EXOSC7_uc010his.1_Intron	NM_015004	NP_055819	Q15024	EXOS7_HUMAN	Homo sapiens exosome component 7 (EXOSC7), transcript variant 1, mRNA.	21					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|RNA binding|protein binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		CACCTAGGAAGACCTCCGTGT	0.507000														35			11		0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25665215	25665215	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:25665215G>A	uc011awn.1	-	20	2561	c.2518C>T	c.(2518-2520)Cct>Tct	p.P840S	TOP2B_uc003cdj.2_Missense_Mutation_p.P835S|TOP2B_uc021wug.1_Missense_Mutation_p.P835S	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	840					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TCCACAGCAGGAAAAAGTAGC	0.333000														25			9		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	53017610	53017610	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:53017610G>A	uc002lga.3	-	8	895	c.835C>T	c.(835-837)Cct>Tct	p.P279S	TCF4_uc010xdu.1_Missense_Mutation_p.P47S|TCF4_uc010xdv.1_Missense_Mutation_p.P47S|TCF4_uc021uki.1_Missense_Mutation_p.P106S|TCF4_uc002lfx.2_Missense_Mutation_p.P106S|TCF4_uc010xdw.1_Missense_Mutation_p.P47S|TCF4_uc002lfy.2_Missense_Mutation_p.P135S|TCF4_uc010xdx.1_Missense_Mutation_p.P153S|TCF4_uc021ukj.1_Intron|TCF4_uc021ukk.1_Intron|TCF4_uc021ukl.1_Missense_Mutation_p.P175S|TCF4_uc002lfz.2_Missense_Mutation_p.P177S|TCF4_uc010dph.1_Missense_Mutation_p.P177S|TCF4_uc010dpi.3_Missense_Mutation_p.P177S|TCF4_uc010xdy.1_Missense_Mutation_p.P153S|TCF4_uc002lgc.4_Missense_Mutation_p.P98S|TCF4_uc021ukm.1_Silent_p.F61F	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	177					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AAACCTGGAGGAACTTTTCGA	0.363000														69			23		0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105180799	105180799	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105180799C>T	uc001ypb.2	+	20	3443	c.3300C>T	c.(3298-3300)gcC>gcT	p.A1100A	INF2_uc001ypc.2_Silent_p.A1100A|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	1100					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGGAGGGGGCCTGGCCGGTGA	0.632000														20			5		0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7260984	7260984	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7260984G>A	uc001qsn.3	-	1	256	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	C1RL_uc009zft.3_Missense_Mutation_p.P55S|C1RL_uc001qso.2_Missense_Mutation_p.P55S|MATL2963_uc001qsp.3_Non-coding_Transcript|MATL2963_uc010sgb.1_5'Flank	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	55	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGGTACCCGGGGGATGTCAGC	0.622000														50			22		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	95491	95491	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000209.1:95491C>T	uc002quk.1	+	7	932	c.877C>T	c.(877-879)Cct>Tct	p.P293S	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_5'Flank	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	293							receptor activity										TGATCAAGACCCTCAGGAGGT	0.488000														217			83		0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210414908	210414908	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:210414908C>T	uc001hhy.3	+	3	476	c.297C>T	c.(295-297)atC>atT	p.I99I	SERTAD4_uc009xcw.3_Silent_p.I99I	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	99							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGTAGACCATCTCAATTTTTG	0.328000														66			18		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11725817	11725817	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11725817C>T	uc002gne.3	+	46	8981	c.8913C>T	c.(8911-8913)gcC>gcT	p.A2971A	DNAH9_uc010coo.3_Silent_p.A2265A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2971	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTTCCCAGCCATTGTGAACT	0.552000														67			48		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757189	56757189	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56757189C>T	uc010rjp.2	+	0	801	c.801C>T	c.(799-801)tcC>tcT	p.S267S		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CTAATAATTCCCAGGAAAATA	0.363000														64			29		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172674507	172674507	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:172674507G>A	uc003fin.4	-	5	1225	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	347					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GAGTTTTTGTGAAAGCATCTT	0.333000														43			18		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72086592	72086592	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:72086592G>A	uc004ahh.2	-	3	1592	c.1316C>T	c.(1315-1317)tCa>tTa	p.S439L		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	439	Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGTTGGGAATGAAGCCAAGCT	0.353000														57			27		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113085140	113085140	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113085140G>A	uc021qqp.1	+	7	1332	c.960G>A	c.(958-960)gaG>gaA	p.E320E	NCAM1_uc001pno.3_Silent_p.E204E|NCAM1_uc001pnp.3_Silent_p.E320E|NCAM1_uc021qqo.1_Silent_p.E320E|NCAM1_uc001pnq.3_Silent_p.E320E|NCAM1_uc001pnr.3_Silent_p.E320E	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	322	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGGAATTAGAGGAGCAGGTCA	0.448000														23			9		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699242	43699242	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43699242G>A	uc002ovy.3	-	3	995	c.893C>T	c.(892-894)cCc>cTc	p.P298L	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.P205L	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	298	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CGTGACATTGGGTAGAATGAG	0.483000														274			68		0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63529377	63529377	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:63529377G>A	uc011kdm.2	+	1	291	c.112G>A	c.(112-114)Gga>Aga	p.G38R		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	38	KRAB.				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						AGAGAACTACGGAAACCTGTT	0.388000														18			25		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20846357	20846357	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20846357G>A	uc001vxe.3	-	38	5587	c.5547C>T	c.(5545-5547)gcC>gcT	p.A1849A	TEP1_uc010ahk.3_Silent_p.A1192A|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.A1741A|TEP1_uc010tlh.1_Silent_p.A187A	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1849					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCACATTGAAGGCCAAGGTAC	0.617000														77			31		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108315553	108315553	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:108315553C>T	uc003ymn.3	-	4	1319	c.851G>A	c.(850-852)aGa>aAa	p.R284K	ANGPT1_uc011lhv.2_Missense_Mutation_p.R84K|ANGPT1_uc003ymo.3_Missense_Mutation_p.R283K|ANGPT1_uc003ymp.4_Missense_Mutation_p.R83K	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	284	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGCACAGTCTCTAAATGGTTT	0.313000														71			33		0	0	1	0	0
NEURL	9148	broad.mit.edu	37	10	105344435	105344435	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105344435G>A	uc001kxh.3	+	3	1202	c.792G>A	c.(790-792)gaG>gaA	p.E264E	NEURL_uc021pxn.1_Silent_p.E247E	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	264					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ACGGCGACGAGGCCGCGCCGG	0.761000														7			3		0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83818732	83818732	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:83818732C>T	uc011dyy.2	+	4	684	c.424C>T	c.(424-426)Cct>Tct	p.P142S	DOPEY1_uc003pjs.1_Missense_Mutation_p.P142S|DOPEY1_uc010kbl.1_Missense_Mutation_p.P142S	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	142					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AACACTGAAACCTGGTCTACA	0.388000														56			35		0	0	1	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80918997	80918997	+	Missense_Mutation	SNP	G	A	A	rs138531570	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:80918997G>A	uc002kgg.1	-	7	675	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	B3GNTL1_uc002kgf.1_Missense_Mutation_p.R110C|B3GNTL1_uc002kge.1_Non-coding_Transcript	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.	221							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TGGTCCACGCGGATGACGCCG	0.697000														15			6		0	0	1	0	0
ATHL1	80162	broad.mit.edu	37	11	291051	291051	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:291051C>T	uc010qvu.2	+	3	959	c.844C>T	c.(844-846)Cct>Tct	p.P282S	ATHL1_uc001lor.4_Missense_Mutation_p.P105S|ATHL1_uc001los.1_Missense_Mutation_p.P282S|ATHL1_uc001lou.4_5'Flank|ATHL1_uc001lov.4_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA.	282					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGGCCTCAGTCCTGGGGGCCT	0.662000														34			23		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127622432	127622432	+	Silent	SNP	C	T	T	rs28763928		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:127622432C>T	uc003kuu.3	-	54	7429	c.6990G>A	c.(6988-6990)agG>agA	p.R2330R		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2330	EGF-like 39; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.R2329Q(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTCCATCGGGCCTTCGGGCCA	0.512000														65			13		0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5612564	5612564	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:5612564G>A	uc002mcd.3	-	5	833	c.621C>T	c.(619-621)tcC>tcT	p.S207S	SAFB2_uc010xio.1_Silent_p.S207S|SAFB2_uc010xip.1_Non-coding_Transcript	NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding	p.S207Y(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GCTCCAAAAGGGATTCTTCAA	0.338000														65			6		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64212957	64212957	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:64212957C>T	uc002jfn.4	-	5	792	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	245	Sushi 4.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CATTCTATTTCTTCCGGGCCA	0.418000														111			49		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75069974	75069974	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:75069974C>T	uc009xrc.3	-	12	1529	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	TTC18_uc001jty.3_Missense_Mutation_p.E470K|TTC18_uc009xrd.1_Missense_Mutation_p.E284K	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	470							binding	p.E470K(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AGCTGAATTTCCAACACAATG	0.348000														124			49		0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16411595	16411595	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:16411595C>T	uc003cay.3	-	5	1300	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	RFTN1_uc010hes.3_Missense_Mutation_p.G304R	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	340						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TTCACTATTCCAAGGTAGAAG	0.493000														111			24		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38964208	38964208	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38964208G>A	uc002oit.3	+	27	4087	c.3957G>A	c.(3955-3957)gaG>gaA	p.E1319E	RYR1_uc002oiu.3_Silent_p.E1319E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1319	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCCCGCCGAGGACGAGGCCC	0.692000														3			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061487	9061487	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9061487C>T	uc002mkp.3	-	2	26163	c.25959G>A	c.(25957-25959)gtG>gtA	p.V8653V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8655	Ser-rich.|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						GTTTATAAATCACAGTCCCTA	0.448000														58			21		0	0	1	0	0
CCDC70	83446	broad.mit.edu	37	13	52439799	52439799	+	RNA	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:52439799A>G	uc010tgr.1	-	0		c.421T>C			CCDC70_uc001vfu.4_Silent_p.E95E|CCDC70_uc021rjv.1_Silent_p.E95E			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CTTTCTGGGAAGAGGAGAAAA	0.468000														101			13		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2865964	2865964	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:2865964G>A	uc010ckd.3	+	5	292	c.202_splice	c.e5-1	p.G68_splice	RAP1GAP2_uc010cke.3_Intron	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	68					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						GTTTCTATAGGGGATCAAGCT	0.567000														12			3		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32017145	32017145	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32017145G>A	uc003nzl.2	-	27	9855	c.9653C>T	c.(9652-9654)aCc>aTc	p.T3218I	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3265	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCCCCACGGTGACCTCGCT	0.687000														38			23		0	0	1	0	0
C11orf65	160140	broad.mit.edu	37	11	108256663	108256664	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:108256663_108256664AG>GA	uc001pkh.3	-	7	840_841	c.770_771CT>TC	c.(769-771)tct>tTC	p.S257F	C11orf65_uc010rvx.1_Missense_Mutation_p.S208F|C11orf65_uc009yxu.2_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.	257										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		AGTTAGCCGAAGAGTTGCTTGT	0.337000														219			17		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51516198	51516198	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:51516198C>T	uc010ric.2	+	0	917	c.917C>T	c.(916-918)tCa>tTa	p.S306L		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	306					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						AAGGACATTTCAGGTGACAAA	0.358000														39			21		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655781	19655781	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19655781C>T	uc002nmw.4	+	7	2530	c.2445C>T	c.(2443-2445)gtC>gtT	p.V815V	CILP2_uc002nmv.4_Silent_p.V809V	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	809						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	p.G815G(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCGCCCTGGTCACCGCCACCC	0.746000														15			8		0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905628	15905628	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15905628C>T	uc010xos.2	+	0	770	c.770C>T	c.(769-771)tCc>tTc	p.S257F		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						GGCTTTGCCTCCGTCATTTAC	0.572000														51			18		0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8399573	8399573	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:8399573G>A	uc001apb.3	+	6	1795	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K	SLC45A1_uc001apc.3_Missense_Mutation_p.E297K	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	599					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCTGGAGGAGTTCCTCAG	0.652000														72			20		0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29650615	29650615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:29650615C>T	uc001rix.1	-	0	5	c.5G>A	c.(4-6)gGc>gAc	p.G2D		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	2					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GGCCAGCAGGCCCATAGCCTC	0.652000														54			9		0	0	1	0	0
ASRGL1	80150	broad.mit.edu	37	11	62123837	62123837	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62123837G>A	uc001nte.4	+	2	515	c.231G>A	c.(229-231)atG>atA	p.M77I	ASRGL1_uc001ntf.4_Missense_Mutation_p.M77I|ASRGL1_uc001ntg.4_Intron|ASRGL1_uc001nth.1_5'Flank	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN	Homo sapiens asparaginase like 1 (ASRGL1), transcript variant 2, mRNA.	77					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	AGGTTGAAATGGATGCTAGTA	0.448000														111			40		0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66044946	66044946	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:66044946C>T	uc011dxu.1	-	10	2231	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	EYS_uc003peq.3_Missense_Mutation_p.E565K|EYS_uc003per.1_Missense_Mutation_p.E565K|EYS_uc021zbn.1_Missense_Mutation_p.E565K	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	565					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTTGTATTTTCCAGATACATG	0.358000														72			40		0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237167	56237167	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56237167C>T	uc010rjk.2	-	0	848	c.807G>A	c.(805-807)ggG>ggA	p.G269G	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CCACCATCTTCCCCTGCTCCA	0.463000														33			7		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66931444	66931444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:66931444G>A	uc004dwu.2	+	3	3201	c.2086G>A	c.(2086-2088)Gac>Aac	p.D696N	AR_uc022byk.1_Missense_Mutation_p.D696N|AR_uc004dwv.2_Missense_Mutation_p.D164N	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	695	Interaction with MYST2.|Ligand-binding.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CAACCAGCCCGACTCCTTTGC	0.527000									Androgen Insensitivity Syndrome					24			9		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140167504	140167504	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:140167504G>A	uc003etn.3	+	5	1121	c.931G>A	c.(931-933)Gac>Aac	p.D311N	CLSTN2_uc003etm.2_Missense_Mutation_p.D311N	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	311					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.C310S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GAAGGGTTGTGACCGGGAGAC	0.463000										HNSCC(16;0.037)				93			36		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31816128	31816128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:31816128G>A	uc001ivs.4	+	8	3374	c.3311G>A	c.(3310-3312)aGc>aAc	p.S1104N	ZEB1_uc001ivr.4_Missense_Mutation_p.S886N|ZEB1_uc010qef.2_Missense_Mutation_p.S886N|ZEB1_uc001ivu.4_Missense_Mutation_p.S1105N|ZEB1_uc010qeh.2_Missense_Mutation_p.S1037N|ZEB1_uc001ivv.4_Missense_Mutation_p.S1084N|ZEB1_uc001ivt.4_Missense_Mutation_p.S886N|ZEB1_uc009xlo.2_Missense_Mutation_p.S1087N|ZEB1_uc009xlp.3_Missense_Mutation_p.S1088N	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	1104	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CAAGCAAGCAGCTTAGGACAA	0.403000														20			9		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102483436	102483436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:102483436C>T	uc003pqp.4	+	13	2599	c.2306C>T	c.(2305-2307)cCc>cTc	p.P769L	GRIK2_uc010kcw.3_Missense_Mutation_p.P769L|GRIK2_uc003pqo.4_Missense_Mutation_p.P769L|GRIK2_uc021zdk.1_Missense_Mutation_p.P582L|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.	769					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	p.P769>?(1)		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)	GTTGGCACTCCCATGGGTAGG	0.438000														67			47		0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103717	52103717	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:52103717G>A	uc001jje.3	-	6	1112	c.158C>T	c.(157-159)tCc>tTc	p.S53F	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.S53F|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.S53F|SGMS1_uc021pqo.1_Missense_Mutation_p.S53F|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	59	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						ATTGTCAGAGGAGACTCGGCA	0.517000														61			36		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43898243	43898243	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:43898243C>T	uc001cjk.2	+	36	5411	c.2801C>T	c.(2800-2802)cCc>cTc	p.P934L		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	1833						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GAGGGTGTCCCCCTCATCAGC	0.607000														130			60		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158607836	158607836	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158607836C>T	uc001fst.1	-	35	5375	c.5176G>A	c.(5176-5178)Gaa>Aaa	p.E1726K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1726					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCAGGATTCCTCATCATCT	0.418000														150			10		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021437	132021437	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:132021437C>T	uc002tsn.2	+	14	2461	c.2409C>T	c.(2407-2409)atC>atT	p.I803I	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.I403I|POTEE_uc002tsl.2_Silent_p.I385I|POTEE_uc010fmy.1_Silent_p.I267I	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	803	Actin-like.						ATP binding										AGCACCCCATCCTGCTGACCG	0.587000														161			66		0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55815961	55815961	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55815961G>A	uc002qkf.3	+	15	1565	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	BRSK1_uc002qkg.3_Missense_Mutation_p.E464K|BRSK1_uc002qkh.3_Missense_Mutation_p.E159K	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	464					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GGCTGGAGATGAGGCTCGAGG	0.672000														14			11		0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20943236	20943237	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20943236_20943237CC>TT	uc001vxo.4	+	4	623_624	c.477_478CC>TT	c.(475-480)ttccct>ttTTct	p.P160S	PNP_uc010ahn.3_3'UTR|PNP_uc021rns.1_Missense_Mutation_p.P31S	NM_000270	NP_000261	P00491	PNPH_HUMAN	Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.	160					NAD biosynthesis via nicotinamide riboside salvage pathway|immune response|inosine catabolic process|interleukin-2 secretion|nicotinamide riboside catabolic process|positive regulation of T cell proliferation|positive regulation of alpha-beta T cell differentiation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	GAGATCGTTTCCCTGCCATGTC	0.470000														36			18		0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54364942	54364942	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:54364942G>A	uc003hag.4	-	4	1100	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.P186S|LNX1_uc003hah.4_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	282	PDZ 1.					cytoplasm	zinc ion binding			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)			CTTTCACTGGGATCTACTCGA	0.443000														55			26		0	0	1	0	0
KLHL5	51088	broad.mit.edu	37	4	39082836	39082836	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:39082836C>T	uc003gtr.2	+	2	1101	c.818C>T	c.(817-819)tCc>tTc	p.S273F	KLHL5_uc003gtp.3_Missense_Mutation_p.S227F|KLHL5_uc003gtq.3_Missense_Mutation_p.S86F|KLHL5_uc003gts.3_Missense_Mutation_p.S273F|KLHL5_uc003gtt.3_Missense_Mutation_p.S212F	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	273	BTB.					cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TCGTTGTGGTCCTTGATCCAG	0.333000														64			29		0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63851848	63851848	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:63851848C>T	uc001jlt.2	+	9	3082	c.2626C>T	c.(2626-2628)Caa>Taa	p.Q876*	ARID5B_uc001jlu.2_Nonsense_Mutation_p.Q633*	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	876					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)					CCACAGACACCAAGAAAAGCT	0.483000														113			37		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064290	9064290	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9064290G>A	uc002mkp.3	-	2	23360	c.23156C>T	c.(23155-23157)tCa>tTa	p.S7719L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7721	Ser-rich.|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						GGTGAGAAGTGAAGTCACAGG	0.547000														70			34		0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82124521	82124521	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:82124521G>A	uc002fgv.3	+	3	851	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	227					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GGCCCCAATGGAAAGGCTGGC	0.413000														39			5		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167525034	167525034	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:167525034C>T	uc010jjd.3	+	8	1715	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L	ODZ2_uc003lzq.2_Missense_Mutation_p.S451L|ODZ2_uc003lzr.4_Missense_Mutation_p.S340L	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)		TTTTCAGATTCAGTGCAGGAC	0.448000														21			6		0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551092	248551092	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248551092C>T	uc001iei.1	+	0	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			CCATGTACTTCCTCCTCAGCC	0.488000														87			17		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140219477	140219477	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:140219477G>A	uc010lnk.3	-	18	3473	c.2953C>T	c.(2953-2955)Ccc>Tcc	p.P985S	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.P985S|DENND2A_uc003vvw.3_Missense_Mutation_p.P985S	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	985										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCTCCACTGGGGAGTGTTTCC	0.527000														144			10		0	0	1	0	0
IFITM1	8519	broad.mit.edu	37	11	314350	314350	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:314350C>T	uc001loy.4	+	0	360	c.180C>T	c.(178-180)tcC>tcT	p.S60S		NM_003641	NP_003632	P13164	IFM1_HUMAN	Homo sapiens interferon induced transmembrane protein 1 (9-27) (IFITM1), mRNA.	60					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCGCCTACTCCGTGAAGGTGC	0.622000														167			13		0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10689727	10689727	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:10689727G>T	uc002kos.2	-	44	7258	c.7084C>A	c.(7084-7086)Ctg>Atg	p.L2362M	PIEZO2_uc002koq.3_Missense_Mutation_p.L217M	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2362						integral to membrane	ion channel activity										CAGCTGGACAGGCTCAAAGTT	0.527000														78			9		2.17888e-05	2.18241e-05	1	1	0
APOB	338	broad.mit.edu	37	2	21252800	21252800	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21252800C>T	uc002red.3	-	10	1568	c.1440G>A	c.(1438-1440)ggG>ggA	p.G480G		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	480	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATCTTCATCCCCAGTGCAGT	0.418000														160			48		0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241555917	241555917	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241555917C>T	uc002vzq.2	+	2	582	c.386C>T	c.(385-387)tCa>tTa	p.S129L	GPR35_uc010fzi.2_5'UTR|GPR35_uc010fzh.2_5'UTR			Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 3, mRNA.	0	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		tccgatacttcaccagattca	0.522000														266			141		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56387438	56387438	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56387438G>A	uc002ivx.4	-	20	4652	c.3781C>T	c.(3781-3783)Cag>Tag	p.Q1261*	BZRAP1_uc010dcs.3_Nonsense_Mutation_p.Q1201*|BZRAP1_uc010wnt.2_Nonsense_Mutation_p.Q1261*	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1261						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					tcttcctcctGGATGTCTGAC	0.572000														59			36		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200957929	200957930	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:200957929_200957930GG>AA	uc001gvs.2	-	21	3579_3580	c.3262_3263CC>TT	c.(3262-3264)ccc>TTc	p.P1088F	KIF21B_uc009wzl.2_Missense_Mutation_p.P1088F|KIF21B_uc001gvr.2_Missense_Mutation_p.P1088F|KIF21B_uc010ppn.2_Missense_Mutation_p.P1088F	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1088					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTGCAGCTCGGGGTGAGCTTCA	0.629000														30			13		0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18735519	18735519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:18735519C>T	uc009yht.2	-	13	2165	c.1975G>A	c.(1975-1977)Ggg>Agg	p.G659R	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	659	Ig-like 4.							p.G659R(2)|p.R658C(1)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGGTCTTCCCCGCGCTCCATG	0.592000														76			28		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34174801	34174801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34174801G>A	uc001bxm.1	-	21	3641	c.3464C>T	c.(3463-3465)cCt>cTt	p.P1155L	CSMD2_uc001bxn.1_Missense_Mutation_p.P1115L|CSMD2_uc001bxo.1_Missense_Mutation_p.P28L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1115	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTAGTTCACAGGAAAGTTGGG	0.483000														56			19		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57425845	57425845	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57425845C>T	uc001cyp.3	-	1	164	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_5'UTR	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	33					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTGGCCTTTCACCTCTAAAA	0.393000														76			26		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24250784	24250784	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24250784G>A	uc003xdz.2	+	2	437	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	ADAMDEC1_uc010lub.2_5'UTR|ADAMDEC1_uc011lab.1_5'UTR	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	73					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GGAAAGGTATGAACCTGAAGT	0.289000														71			25		0	0	1	0	0
UBA1	7317	broad.mit.edu	37	X	47060944	47060944	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:47060944C>T	uc004dhj.4	+	7	897	c.746C>T	c.(745-747)tCc>tTc	p.S249F	UBA1_uc004dhk.4_Missense_Mutation_p.S249F	NM_153280	NP_695012	P22314	UBA1_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 1 (UBA1), transcript variant 2, mRNA.	249	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GACTTTGTCTCCTTTTCAGAA	0.547000														12			28		0	0	1	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114107626	114107626	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:114107626G>A	uc001vtq.1	-	0	214	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.	43					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			AGGTGGTCCAGGCCCCCGGAA	0.612000														71			26		0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890862	23890862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:23890862C>T	uc001ywj.4	-	0	2132	c.2028G>A	c.(2026-2028)gaG>gaA	p.E676E		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GTGTGGGCACCTCCGCTTGCG	0.682000														11			4		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382676	22382676	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22382676C>T	uc001yuc.1	+	6	1185	c.204C>T	c.(202-204)ttC>ttT	p.F68F	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.F68F	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACTTGGCCTTCCTGGATGCAT	0.483000														284			29		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17444715	17444716	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17444715_17444716GG>AA	uc002zlw.3	-	8	1588_1589	c.1480_1481CC>TT	c.(1480-1482)ccg>TTg	p.P494L		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	494										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGCAGATGCCGGGTTCTGCTGT	0.594000														44			15		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6697549	6697549	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6697549G>A	uc002mfm.3	-	20	2664	c.2602C>T	c.(2602-2604)Cac>Tac	p.H868Y		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	868					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCTGGATTGTGGAGTAGTTCC	0.592000														44			8		0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169293	90169293	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:90169293C>T	uc003hsm.1	-	1	2488	c.1969G>A	c.(1969-1971)Gga>Aga	p.G657R	GPRIN3_uc021xqb.1_Missense_Mutation_p.G657R	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	657										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGAGTGAGTCCTACCTGAGCA	0.577000														62			17		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57929968	57929968	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:57929968G>A	uc002aei.3	+	8	1140	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	GCOM1_uc002aej.3_Missense_Mutation_p.E337K|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.E337K|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.E337K	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	337					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TTCTGACAAGGAAAGGTAAGA	0.383000														21			8		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150886928	150886928	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:150886928C>T	uc003lue.4	-	21	12317	c.12304G>A	c.(12304-12306)Gag>Aag	p.E4102K	FAT2_uc003lud.4_Missense_Mutation_p.E709K	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	4102					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)			GGGTTGAGCTCGATGGCAGGC	0.567000														89			20		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170964646	170964646	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:170964646G>A	uc010plz.2	+	12	1465	c.1311G>A	c.(1309-1311)ctG>ctA	p.L437L	C1orf129_uc001ghg.3_Silent_p.L437L|C1orf129_uc009wvy.3_Silent_p.L244L	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	437							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACAGTGAGCTGAAACCGATAC	0.458000														70			27		0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612349	54612349	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:54612349G>A	uc022adk.1	+	1	519	c.114G>A	c.(112-114)gcG>gcA	p.A38A	VSTM2A_uc010kzf.3_Silent_p.A38A	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	38	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ACGTGACGGCGACCGAGGGGC	0.577000														55			17		0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42566673	42566673	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42566673G>A	uc002osj.1	-	3	510	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	GRIK5_uc010eib.1_Missense_Mutation_p.P78S	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	159						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTGGCCGAGGGGTAGTTGAAG	0.572000														54			33		0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224609	248224609	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248224609C>T	uc001idx.1	+	0	626	c.626C>T	c.(625-627)cCc>cTc	p.P209L	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTCGTGTTTCCCTTCATTGCT	0.507000														165			43		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101587521	101587521	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:101587521G>A	uc001thz.4	-	4	964	c.574C>T	c.(574-576)Caa>Taa	p.Q192*		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	192					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATCCCAACTTGAAAAACATCT	0.398000														162			26		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228560541	228560541	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228560541C>T	uc009xez.1	+	93	22106	c.22062C>T	c.(22060-22062)ccC>ccT	p.P7354P	OBSCN_uc001hsr.1_Silent_p.P1983P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7354					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACGTGGCCCTGGCCAGGTG	0.657000														9			9		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559762	140559762	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140559762G>A	uc011dai.2	+	0	2392	c.2147G>A	c.(2146-2148)aGg>aAg	p.R716K	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	716					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCTGTGTAGGAGGAGCAGG	0.657000														206			22		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189852856	189852856	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189852856C>T	uc002uqj.1	+	5	695	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	193	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CATCCTGGTTCCCCTGTAAGT	0.398000														96			39		0	0	1	0	0
CYP51A1	1595	broad.mit.edu	37	7	91753076	91753076	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:91753076G>A	uc003ulm.4	-	5	1024	c.862C>T	c.(862-864)Ctc>Ttc	p.L288F	CYP51A1_uc011khn.2_Missense_Mutation_p.L183F|CYP51A1_uc003uln.4_Missense_Mutation_p.L225F	NM_000786	NP_001139624	Q16850	CP51A_HUMAN	Homo sapiens cytochrome P450, family 51, subfamily A, polypeptide 1 (CYP51A1), transcript variant 1, mRNA.	282					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	AAAGTTTGGAGAATGTCATCA	0.343000														73			9		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766141	19766141	+	Silent	SNP	G	A	A	rs117174741	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19766141G>A	uc002nnh.4	-	10	1546	c.1518C>T	c.(1516-1518)atC>atT	p.I506I	ATP13A1_uc002nnf.4_5'UTR|ATP13A1_uc002nng.3_Silent_p.I388I	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	506					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGGCCAGGGCGATGAGGGAGG	0.627000														50			17		0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735888	41735888	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:41735888C>T	uc003azw.3	+	9	1101	c.885C>T	c.(883-885)ttC>ttT	p.F295F		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	311					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TACCCGTGTTCCCCGGCGGGA	0.667000														101			29		0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48541212	48541212	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48541212C>T	uc010wmm.1	+	9	1259	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	ACSF2_uc002iqu.2_Silent_p.F360F|ACSF2_uc010wml.1_Silent_p.F317F|ACSF2_uc010wmn.1_Silent_p.F347F|ACSF2_uc010wmo.1_Silent_p.F200F	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	360					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCACGATGTTCGTGGACATTC	0.577000														97			46		0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8167710	8167710	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:8167710G>A	uc003sro.4	-	12	1259	c.1123C>T	c.(1123-1125)Ctg>Ttg	p.L375L	ICA1_uc010ktr.3_Silent_p.L404L|ICA1_uc003srm.3_Silent_p.L375L|ICA1_uc003srn.4_Silent_p.L301L|ICA1_uc003srq.3_Silent_p.L375L|ICA1_uc003srr.3_Silent_p.L374L|ICA1_uc010kts.3_Non-coding_Transcript	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	375					neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TCACTCAACAGCAGCAGGTCA	0.552000														170			33		0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148968136	148968136	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:148968136C>T	uc003ilf.3	+	19	1961	c.1961C>T	c.(1960-1962)cCt>cTt	p.P654L	ARHGAP10_uc003ilg.3_Missense_Mutation_p.P303L|ARHGAP10_uc003ilh.3_Missense_Mutation_p.P235L|ARHGAP10_uc003ili.3_Missense_Mutation_p.P87L	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	654					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GTCCCTGGGCCTCCTGGACCA	0.562000														61			25		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230924019	230924019	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:230924019T>C	uc002vqd.2	-	1	509	c.50A>G	c.(49-51)aAa>aGa	p.K17R	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.K17R|SLC16A14_uc002vqf.3_Missense_Mutation_p.K17R	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	17						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CTTTTTGTCTTTGGGGCCATC	0.408000														69			5		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255810	15255810	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15255810C>T	uc001iob.3	-	7	1784	c.1777G>A	c.(1777-1779)Gac>Aac	p.D593N		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	593						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TAGGAGTGGTCCCCGGGGAGT	0.542000														63			59		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92999147	92999147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:92999147C>T	uc022axs.1	-	7	1409	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	RUNX1T1_uc003yfc.2_Missense_Mutation_p.E322K|RUNX1T1_uc010mam.3_Missense_Mutation_p.E322K|RUNX1T1_uc003yfe.2_Missense_Mutation_p.E312K|RUNX1T1_uc003yfd.3_Missense_Mutation_p.E349K|RUNX1T1_uc022axo.1_Missense_Mutation_p.E349K|RUNX1T1_uc010mao.3_Missense_Mutation_p.E322K|RUNX1T1_uc011lgi.2_Missense_Mutation_p.E360K|RUNX1T1_uc022axp.1_Missense_Mutation_p.E349K|RUNX1T1_uc022axq.1_Missense_Mutation_p.E349K|RUNX1T1_uc022axr.1_Missense_Mutation_p.E349K|RUNX1T1_uc022axt.1_Missense_Mutation_p.E349K|RUNX1T1_uc022axu.1_Missense_Mutation_p.E329K|RUNX1T1_uc022axv.1_Missense_Mutation_p.E349K|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Missense_Mutation_p.E312K	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	349	Poly-Ser.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCTGCCCATTCTCTGTCTGTT	0.383000														113			43		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67629324	67629324	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:67629324G>A	uc002aqo.2	+	4	496	c.399G>A	c.(397-399)tcG>tcA	p.S133S	IQCH_uc010ujv.2_Intron|IQCH_uc002aqn.2_Intron|IQCH_uc002aqp.2_Intron|IQCH_uc002aqq.2_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	133										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TAAAGGTTTCGAAGTTAATCA	0.343000														74			45		0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36945041	36945041	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:36945041G>A	uc001caw.2	-	2	641	c.57C>T	c.(55-57)ctC>ctT	p.L19L	CSF3R_uc001cav.2_Silent_p.L19L|CSF3R_uc001cax.2_Silent_p.L19L	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	19					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CACTTCCGGGGAGCAGCAGGA	0.547000														50			20		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22157780	22157780	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22157780G>A	uc009vqd.3	-	83	11533	c.11493C>T	c.(11491-11493)atC>atT	p.I3831I	HSPG2_uc001bfi.3_5'Flank|HSPG2_uc001bfj.3_Silent_p.I3830I	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3830	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CATGGAAGACGATCTCCTCGC	0.677000														71			17		0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78471031	78471031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:78471031C>T	uc002bdh.3	-	10	1833	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	ACSBG1_uc010umx.2_Missense_Mutation_p.E301K|ACSBG1_uc010umw.2_Missense_Mutation_p.E539K	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	543					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						AGCCAGCCTTCCTCGTCGATG	0.627000														41			6		0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50455584	50455584	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50455584G>A	uc010ybh.2	-	8	1810	c.1719C>T	c.(1717-1719)ctC>ctT	p.L573L	SIGLEC11_uc010ybi.2_Silent_p.L477L	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	573					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AACAGAAAGCGAGCAGGGCAG	0.637000														107			32		0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64368270	64368270	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64368270C>T	uc001oam.1	+	8	2205	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V	SLC22A12_uc001oal.1_Silent_p.V265V|SLC22A12_uc009yps.1_Silent_p.V452V|SLC22A12_uc001oan.1_Silent_p.V378V|SLC22A12_uc009ypt.3_Silent_p.V304V	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	486					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GGCCTCTGGTCCGGCTGCTGG	0.657000														60			24		0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61735251	61735251	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61735251C>T	uc002jbg.3	+	4	684	c.365C>T	c.(364-366)tCc>tTc	p.S122F	MAP3K3_uc002jbe.3_Missense_Mutation_p.S153F|MAP3K3_uc002jbf.3_Missense_Mutation_p.S153F|MAP3K3_uc002jbh.3_Missense_Mutation_p.S153F|MAP3K3_uc010wpo.2_Missense_Mutation_p.S37F|MAP3K3_uc010wpp.2_Missense_Mutation_p.S122F	NM_002401	NP_002392	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA.	122	OPR.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						TTGCTGTTGTCCCAGGACAGA	0.438000														61			20		0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48800737	48800737	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:48800737C>T	uc002pir.2	-	13	2192	c.1509G>A	c.(1507-1509)aaG>aaA	p.K503K	CCDC114_uc002piq.2_Silent_p.K312K|CCDC114_uc002pio.3_Missense_Mutation_p.R564K	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	503										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CGGCCAGGTCCTTCTGGCGCT	0.736000														20			4		0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185698093	185698093	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:185698093G>A	uc003iww.2	-	5	816	c.522C>T	c.(520-522)atC>atT	p.I174I	ACSL1_uc011ckm.1_Silent_p.I3I|ACSL1_uc003iwt.1_Silent_p.I174I|ACSL1_uc003iwu.1_Silent_p.I174I|ACSL1_uc011ckn.1_Silent_p.I140I	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	174					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AAAGTGGAACGATCACCATCG	0.388000														46			4		0	0	1	0	0
LETM2	137994	broad.mit.edu	37	8	38258410	38258410	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:38258410C>T	uc003xlm.2	+	5	914	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	LETM2_uc011lbn.2_Missense_Mutation_p.R72C|LETM2_uc003xll.2_Missense_Mutation_p.R180C|LETM2_uc003xln.2_Missense_Mutation_p.R72C|LETM2_uc003xlo.2_Missense_Mutation_p.R72C	NM_001199659	NP_001186588	Q2VYF4	LETM2_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 2 (LETM2), transcript variant 1, mRNA.	275	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			GGAGATAGTTCGCTTCTCCAA	0.463000														107			61		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9258912	9258912	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:9258912C>T	uc001qvk.1	-	9	1137	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	A2M_uc009zgk.1_Missense_Mutation_p.E192K	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	342					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTTGTGATTTCACTGGACTGC	0.408000														66			41		0	0	1	0	0
OR2AE1	81392	broad.mit.edu	37	7	99473921	99473921	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99473921C>T	uc003usc.1	-	0	736	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGAGAAACCACCGTGAGGTGG	0.478000														85			38		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506507	11506507	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:11506507C>T	uc001qzw.1	-	3	564	c.527G>A	c.(526-528)gGa>gAa	p.G176E	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	177	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGAGG	0.602000														137			84		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767335	105767335	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:105767335C>T	uc004bbs.2	+	4	492	c.422C>T	c.(421-423)tCa>tTa	p.S141L		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	141	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				aaaaaagattcaaagaaaggc	0.353000														31			8		0	0	1	0	0
LEPREL4	10609	broad.mit.edu	37	17	39964117	39964117	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39964117G>A	uc002hxu.3	-	5	1523	c.1329C>T	c.(1327-1329)ccC>ccT	p.P443P	LEPREL4_uc002hxt.3_Silent_p.P352P	NM_006455	NP_006446	Q92791	SC65_HUMAN	Homo sapiens leprecan-like 4 (LEPREL4), mRNA.	352					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CCACCTCCCGGGGCTGGAAGT	0.597000														20			26		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152554067	152554067	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152554067G>A	uc021vrb.1	-	11	1277	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	NEB_uc002txu.3_Silent_p.F416F|NEB_uc021vrc.1_Silent_p.F416F|NEB_uc010fnx.3_Silent_p.F416F|NEB_uc021vrd.1_Silent_p.F416F|NEB_uc010fny.2_5'UTR	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	416					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATCACTACTGAAGTTCTGCA	0.343000														97			9		0	0	1	0	0
GPR22	2845	broad.mit.edu	37	7	107115332	107115332	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107115332G>A	uc003vef.3	+	2	2173	c.827G>A	c.(826-828)gGt>gAt	p.G276D	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron|GPR22_uc022ajv.1_Missense_Mutation_p.G276D	NM_005295	NP_005286	Q99680	GPR22_HUMAN	Homo sapiens G protein-coupled receptor 22 (GPR22), mRNA.	276						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						CAAAGCAGTGGTGGGAGAAAT	0.433000														69			26		0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438240	58438240	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58438240G>A	uc002qqs.1	-	3	1601	c.1309C>T	c.(1309-1311)Cga>Tga	p.R437*	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Nonsense_Mutation_p.R352*	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TTGCCCTTTCGACTAAAAGAT	0.468000														211			69		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140952615	140952615	+	Silent	SNP	C	T	T	rs35538393		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140952615C>T	uc004cog.3	+	27	4366	c.4221C>T	c.(4219-4221)ttC>ttT	p.F1407F	CACNA1B_uc022bqn.1_Silent_p.F1407F|CACNA1B_uc011mfd.2_Silent_p.F1008F|CACNA1B_uc004coi.3_Silent_p.F621F	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1407					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCTTCTTCTTCGTCAACATCT	0.537000														86			36		0	0	1	0	0
C11orf9	745	broad.mit.edu	37	11	61533631	61533631	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:61533631G>A	uc001nsc.1	+	2	432	c.336G>A	c.(334-336)aaG>aaA	p.K112K	C11orf9_uc001nse.1_Silent_p.K103K	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	112	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P111T(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						CTGCCCCCAAGCCCTTCCCGG	0.701000														45			19		0	0	1	0	0
LOC650623	650623	broad.mit.edu	37	10	81443974	81443974	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81443974G>A	uc010qlu.2	+	0		c.1244G>A								Homo sapiens BEN domain containing 3 pseudogene (LOC650623), non-coding RNA.																		CTACGGGGACGGCGGCAAGCA	0.632000														6			4		0	0	1	0	0
EIF2C1	26523	broad.mit.edu	37	1	36358229	36358229	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:36358229G>A	uc001bzl.3	+	2	494	c.281G>A	c.(280-282)gGa>gAa	p.G94E	EIF2C1_uc001bzk.3_Missense_Mutation_p.G19E|EIF2C1_uc009vuy.3_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	94					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGTATGATGGAAAGAAGAAC	0.527000														60			32		0	0	1	0	0
KIAA1328	57536	broad.mit.edu	37	18	34740344	34740344	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:34740344G>A	uc002kzz.3	+	8	1436	c.1414_splice	c.e8+1	p.G472_splice	KIAA1328_uc002lab.3_Splice_Site_p.G224_splice|KIAA1328_uc002lac.1_Splice_Site_p.G331_splice	NM_020776	NP_065827	Q86T90	K1328_HUMAN	Homo sapiens KIAA1328 (KIAA1328), mRNA.	472										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		ACCCCAAAGAGGTAAGTTTAA	0.408000														39			11		0	0	1	0	0
KIF12	113220	broad.mit.edu	37	9	116858707	116858707	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116858707C>T	uc004bif.3	-	4	522	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	228	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GGCATGGCTTCGGCTGGAGGC	0.582000														11			6		0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156269057	156269057	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:156269057C>T	uc003ios.3	-	14	2086	c.1822_splice	c.e14-1	p.E608_splice	MAP9_uc011cin.2_Splice_Site_p.E583_splice	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	608					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TCCTTATTTTCCTAAAGAGAA	0.328000														7			3		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61028352	61028352	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61028352C>T	uc010qif.1	-	7	1035	c.969G>A	c.(967-969)cgG>cgA	p.R323R	FAM13C_uc010qid.2_Silent_p.R218R|FAM13C_uc001jkn.3_Silent_p.R301R|FAM13C_uc001jko.3_Silent_p.R301R|FAM13C_uc010qie.2_Silent_p.R218R|FAM13C_uc001jkp.3_Silent_p.R218R	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	301										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTCAAATTTCCGAATTTTCC	0.507000														49			23		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7526061	7526061	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7526061G>A	uc010sge.2	-	13	3641	c.3615C>T	c.(3613-3615)gcC>gcT	p.A1205A	CD163L1_uc001qsy.3_Silent_p.A1195A	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1195	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TAGATAAAGGGGCGAGGCTGA	0.567000														133			16		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42378415	42378415	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42378415G>A	uc001zox.3	-	3	478	c.383C>T	c.(382-384)cCc>cTc	p.P128L		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	128					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		ACCCACCTGGGGACTCTGGGA	0.577000														4			3		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176011643	176011643	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176011643G>A	uc021yie.1	+	18	2635	c.2361G>A	c.(2359-2361)ggG>ggA	p.G787G	CDHR2_uc003mem.2_Silent_p.G787G|CDHR2_uc003men.1_Silent_p.G787G	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	787	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACCCCCAGGGGGGTGAGACCA	0.602000														125			13		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169362547	169362547	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169362547G>A	uc021xuh.1	-	8	1345	c.1235C>T	c.(1234-1236)tCt>tTt	p.S412F	DDX60L_uc003irq.4_Missense_Mutation_p.S412F|DDX60L_uc003irr.1_Missense_Mutation_p.S412F|DDX60L_uc003irs.1_Missense_Mutation_p.S139F	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	412							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CAGAGGAAAAGACTTTCCAAC	0.373000														95			20		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159646591	159646591	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:159646591G>A	uc010kjv.3	+	7	1109	c.909G>A	c.(907-909)gaG>gaA	p.E303E	FNDC1_uc010kjw.1_Silent_p.E251E	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	303	Fibronectin type-III 3.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCTATCGAGAGAAGGGGGAAT	0.468000														91			58		0	0	1	0	0
AXIN2	8313	broad.mit.edu	37	17	63533730	63533730	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:63533730G>A	uc002jfi.3	-	5	1713	c.1424C>T	c.(1423-1425)tCg>tTg	p.S475L	AXIN2_uc002jfh.3_Missense_Mutation_p.S475L	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	475	Interaction with beta-catenin (By similarity).				Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GTGGTACTGCGAATGGTGGTG	0.711000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome					12			3		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56380414	56380414	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:56380414G>A	uc003pcy.4	-	52	10649	c.10541C>T	c.(10540-10542)tCa>tTa	p.S3514L		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5926					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATACCTTTCTGAATTAATCTG	0.418000														35			5		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21136525	21136525	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21136525C>T	uc010vbe.2	-	8	1375	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N	DNAH3_uc002die.2_Missense_Mutation_p.D430N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	459	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAAACGAGGTCCTCAAGTGAC	0.453000														88			14		0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135369385	135369385	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:135369385C>T	uc001lno.2	-	9	723	c.618G>A	c.(616-618)ctG>ctA	p.L206L	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Silent_p.L78L|SYCE1_uc009ybn.2_Silent_p.L206L|SYCE1_uc001lnn.2_Silent_p.L170L	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	206					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCACGTCTTCCAGTGTCGCCT	0.607000														30			17		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216172336	216172336	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:216172336T>C	uc001hku.1	-	33	6937	c.6550A>G	c.(6550-6552)Aca>Gca	p.T2184A		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2184	Fibronectin type-III 8.				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)		AAATCATGTGTATGGTTTGAC	0.318000										HNSCC(13;0.011)				89			29		0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88387520	88387520	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:88387520G>A	uc002ssr.3	+	2	539	c.454G>A	c.(454-456)Gac>Aac	p.D152N	SMYD1_uc002ssq.2_Intron	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	152	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGTGGACGTGGACACATTCTT	0.622000														61			18		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411681	23411681	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:23411681C>T	uc004dal.4	+	2	2054	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	682					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TCATCGTCTTCAATCCGTCCT	0.493000														19			37		0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36524562	36524562	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36524562C>T	uc003cgh.1	+	2	506	c.467C>T	c.(466-468)cCc>cTc	p.P156L	STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Intron	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	156					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GGCCTGGCACCCCAGCGGTGC	0.572000														57			9		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080123	54080123	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54080123G>A	uc002qbx.1	+	6	1743	c.309G>A	c.(307-309)atG>atA	p.M103I	ZNF331_uc002qby.1_Missense_Mutation_p.M103I|ZNF331_uc002qbz.1_Missense_Mutation_p.M103I|ZNF331_uc010eqr.1_Missense_Mutation_p.M103I|ZNF331_uc002qca.1_Missense_Mutation_p.M103I|ZNF331_uc021uzg.1_Missense_Mutation_p.M103I|ZNF331_uc021uzh.1_Missense_Mutation_p.M103I|ZNF331_uc002qcb.1_Missense_Mutation_p.M103I|ZNF331_uc002qcc.1_Missense_Mutation_p.M103I|ZNF331_uc002qcd.1_Missense_Mutation_p.M103I	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TCAATCAGATGATCATCAATT	0.438000			T	?	follicular thyroid adenoma									69			25		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247582117	247582117	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247582117C>T	uc001icr.3	+	2	159	c.21C>T	c.(19-21)cgC>cgT	p.R7R	NLRP3_uc001ics.3_Silent_p.R7R|NLRP3_uc001icu.3_Silent_p.R7R|NLRP3_uc001icw.3_Silent_p.R7R|NLRP3_uc001icv.3_Silent_p.R7R|NLRP3_uc010pyw.2_Silent_p.R5R|NLRP3_uc001ict.1_Silent_p.R5R	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	7	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAAGCACCCGCTGCAAGCTGG	0.537000														44			13		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887946	9887946	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:9887946C>T	uc002koi.4	+	1	1919	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	TXNDC2_uc002koh.4_Silent_p.F423F|TXNDC2_uc021ugx.1_Silent_p.F423F	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	490	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GACCATTCTTCCATGCCCTGT	0.587000														38			8		0	0	1	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927586	92927586	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:92927586C>T	uc004efq.3	-	0	1097	c.718G>A	c.(718-720)Gac>Aac	p.D240N	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	240	Glu-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCCATACAGTCTTTAGAATCT	0.418000														43			67		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926512	157926512	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:157926512C>T	uc003wno.3	-	8	1534	c.1413G>A	c.(1411-1413)ggG>ggA	p.G471G	PTPRN2_uc003wnp.3_Silent_p.G454G|PTPRN2_uc003wnq.3_Silent_p.G471G|PTPRN2_uc003wnr.3_Silent_p.G433G|PTPRN2_uc011kwa.2_Silent_p.G494G	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	471						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TTTGGAGCTCCCCAAACGCAG	0.637000														71			25		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8176468	8176468	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:8176468G>A	uc003wsh.4	-	4	3417	c.3417C>T	c.(3415-3417)atC>atT	p.I1139I		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1139	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										CCCGGTGGATGATCCCGTGCT	0.741000														160			14		0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59971154	59971154	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:59971154G>A	uc002izn.3	-	12	1770	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F	INTS2_uc002izm.3_Missense_Mutation_p.S557F	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	565					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.R564C(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CTTGGTAAAGGAACGGCTCCT	0.378000														12			6		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161747	57161747	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57161747G>A	uc001cyk.4	+	5	774	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	235	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TTATATCCCAGAATATCTCAA	0.418000														264			115		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96014663	96014663	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96014663C>T	uc001kjk.3	+	10	4045	c.3411C>T	c.(3409-3411)atC>atT	p.I1137I	PLCE1_uc010qnx.2_Silent_p.I1137I|PLCE1_uc001kjm.3_Silent_p.I829I	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1137					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGAATGCCATCGCTAACCCTC	0.522000														255			109		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15053254	15053254	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15053254C>T	uc010xoc.2	+	0	954	c.954C>T	c.(952-954)ctC>ctT	p.L318L		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TTGCTAAGCTCTCATGAATTG	0.478000														52			28		0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77425034	77425034	+	Missense_Mutation	SNP	G	A	A	rs148023800	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:77425034G>A	uc003kfj.3	-	15	1873	c.1748C>T	c.(1747-1749)cCg>cTg	p.P583L		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	583					endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CTTTACATTCGGAACAATAAG	0.368000									Hermansky-Pudlak syndrome					62			20		0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51448530	51448530	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:51448530G>A	uc001wyx.4	-	7	2660	c.1895C>T	c.(1894-1896)tCg>tTg	p.S632L	TRIM9_uc001wyy.2_Missense_Mutation_p.S713L	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	632	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GTTGGTGTGCGAGTTGTTGTG	0.498000														119			45		0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219423367	219423367	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219423367G>A	uc010fvs.1	-	3	423	c.10C>T	c.(10-12)Ctg>Ttg	p.L4L	USP37_uc002vie.2_Silent_p.L4L|USP37_uc010zkf.1_Silent_p.L4L|USP37_uc002vif.2_Silent_p.L4L|USP37_uc002vig.2_Intron|USP37_uc010zkg.2_Silent_p.L4L	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	4					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TGTATCTTCAGAGGAGACATA	0.323000														113			50		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83817025	83817025	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:83817025C>T	uc010vns.2	+	13	2487	c.2223C>T	c.(2221-2223)gcC>gcT	p.A741A	CDH13_uc002fgx.3_Silent_p.A694A|CDH13_uc010vnt.2_Silent_p.A440A|CDH13_uc010vnu.2_Silent_p.A655A	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	694					Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CGGCAGGGGCCCTGCGCTTCA	0.517000														68			7		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003386	75003386	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:75003386C>T	uc004ecj.2	-	0	1694	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	501	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCCACAGCCTCCCTATATTGT	0.488000														16			30		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16816494	16816494	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:16816494C>T	uc010rcu.1	-	17	2496	c.2481G>A	c.(2479-2481)gaG>gaA	p.E827E	PLEKHA7_uc001mmo.3_Silent_p.E827E|PLEKHA7_uc010rcv.2_Silent_p.E401E|PLEKHA7_uc001mmn.3_Silent_p.E535E	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	827					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TTCTGAAGTTCTCTTTATTTG	0.483000														171			73		0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70620411	70620411	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:70620411G>A	uc003hen.3	-	2	552	c.254C>T	c.(253-255)aCt>aTt	p.T85I		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	85					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TCCAGGGAGAGTCATTTCCAA	0.303000														133			46		0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148927953	148927953	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:148927953C>T	uc003ewy.4	-	3	860	c.607_splice	c.e3+1	p.D203_splice	CP_uc011bnr.2_Splice_Site|CP_uc003ewx.4_5'Flank|CP_uc003ewz.3_Splice_Site_p.D203_splice|CP_uc010hvf.1_5'Flank	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	203	F5/8 type A 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGAAGATGTACCTTTTTTACA	0.403000														68			27		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12315809	12315809	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:12315809C>T	uc001mkg.1	+	2	1122	c.831C>T	c.(829-831)atC>atT	p.I277I		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	277					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CCAATGCCATCCGAAGGTCTC	0.607000														56			20		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058360	9058360	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9058360C>T	uc002mkp.3	-	2	29290	c.29086G>A	c.(29086-29088)Gga>Aga	p.G9696R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9698	Ser-rich.|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						TGTGAAAGTCCTTGAGACATA	0.493000														54			17		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27997849	27997849	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:27997849C>T	uc004dbx.1	-	0	1718	c.1603G>A	c.(1603-1605)Gac>Aac	p.D535N		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	535										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TTCAAGTTGTCTTCATCTCGC	0.483000														23			43		0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123754798	123754798	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123754798G>A	uc001pzi.3	-	2	655	c.447C>T	c.(445-447)ttC>ttT	p.F149F		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	149						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						CAGACAAGAAGAAAACATTTA	0.433000														91			16		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32975413	32975413	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:32975413C>T	uc001rlj.4	-	8	2074	c.1959G>A	c.(1957-1959)agG>agA	p.R653R	PKP2_uc001rlk.4_Silent_p.R609R|PKP2_uc010skj.2_Silent_p.R609R	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	653					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTTTTACTTTCCTGCTTCGAC	0.378000														68			15		0	0	1	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29956781	29956781	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:29956781C>T	uc003afx.4	-	7	903	c.648G>A	c.(646-648)gaG>gaA	p.E216E	NIPSNAP1_uc011akp.2_Silent_p.E196E	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	Homo sapiens nipsnap homolog 1 (C. elegans) (NIPSNAP1), transcript variant 1, mRNA.	216								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						CGCCCACTGCCTCCTGGTTCT	0.557000														128			51		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361655	107361655	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107361655G>A	uc011lvp.2	-	0	40	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AGTCCCTTCAGAAAAAATTCC	0.383000														91			24		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1217051	1217051	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1217051C>T	uc003jbw.4	+	7	1220	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	388					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCAACGCCTTCCTCTCAGAGG	0.662000														86			41		0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3486680	3486680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3486680G>A	uc002cvd.3	-	3	1203	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	Homo sapiens zinc finger protein 597 (ZNF597), mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						acactgtaagggcttgaattt	0.463000														17			11		0	0	1	0	0
DDB2	1643	broad.mit.edu	37	11	47256923	47256923	+	Missense_Mutation	SNP	C	T	T	rs145822896		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:47256923C>T	uc001neb.2	+	6	1178	c.983C>T	c.(982-984)cCg>cTg	p.P328L	DDB2_uc001nec.2_Non-coding_Transcript|DDB2_uc009yli.1_Missense_Mutation_p.P264L|DDB2_uc001ned.2_Non-coding_Transcript|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron	NM_000107	NP_000098	Q92466	DDB2_HUMAN	Homo sapiens damage-specific DNA binding protein 2, 48kDa (DDB2), mRNA.	328					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GGCCTGATCCCGCACCCTCAC	0.622000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum					35			23		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41019027	41019027	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41019027C>T	uc003jmj.4	-	24	3025	c.2535G>A	c.(2533-2535)ctG>ctA	p.L845L	HEATR7B2_uc003jmi.4_Silent_p.L400L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	845							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						CTTCACTTTTCAGATTTTCCA	0.473000														30			13		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42554560	42554560	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:42554560C>T	uc003gwr.2	-	16	1713	c.1481G>A	c.(1480-1482)cGa>cAa	p.R494Q	ATP8A1_uc003gws.2_Missense_Mutation_p.R479Q|ATP8A1_uc011byz.1_Missense_Mutation_p.R479Q	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	494					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTCACCTTCTCGCTCTGGCAC	0.363000														75			31		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2020459	2020459	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2020459C>T	uc003wpx.4	+	8	966	c.828C>T	c.(826-828)ttC>ttT	p.F276F	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	276	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACACGCACTTCGACGTCCAGT	0.567000														57			8		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920274	4920274	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4920274C>T	uc001qng.3	+	0	1933	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	KCNA6_uc021qtr.1_Missense_Mutation_p.S356F	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	356						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TTCAAGCTCTCCCGCCACTCC	0.637000										HNSCC(72;0.22)				27			7		0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10434093	10434094	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10434093_10434094GG>AA	uc002moa.3	-	3	1036_1037	c.956_957CC>TT	c.(955-957)ccc>cTT	p.P319L		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	302	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TACTGCGGCCGGGGGGCCCAGG	0.713000														20			4		0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113815359	113815359	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113815359C>T	uc001pok.3	+	7	1110	c.972C>T	c.(970-972)gtC>gtT	p.V324V	HTR3B_uc001pol.3_Silent_p.V313V	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	324					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TCGTGTTGGTCAAATTCCTCC	0.562000														83			10		0	0	1	0	0
RHOV	171177	broad.mit.edu	37	15	41165381	41165381	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:41165381C>T	uc001znd.3	-	2	736	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_133639	NP_598378	Q96L33	RHOV_HUMAN	Homo sapiens ras homolog gene family, member V (RHOV), mRNA.	196					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TCAAATACTTCCTTCAAGTTC	0.592000														85			39		0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35469468	35469468	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:35469468C>T	uc021wir.1	+	0	1971	c.1971C>T	c.(1969-1971)ttC>ttT	p.F657F	SLC5A3_uc002yto.3_Silent_p.F657F|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	657						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ACTGGAAGTTCATAGACTGGT	0.463000														135			11		0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118751	194118751	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:194118751G>A	uc003ftv.1	-	1	292	c.261C>T	c.(259-261)tcC>tcT	p.S87S	GP5_uc021xiz.1_Silent_p.S87S	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	87					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGGCAACGGCGGAAATGTGGC	0.587000														62			41		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452406	138452406	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:138452406C>T	uc003ihe.4	-	0	1224	c.837G>A	c.(835-837)ggG>ggA	p.G279G	PCDH18_uc003ihf.4_Silent_p.G272G|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.G59G|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	279	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATACAATTTTCCCATTAGCGC	0.398000														79			27		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265703	10265703	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10265703C>T	uc002gmk.1	-	3	412	c.322G>A	c.(322-324)Gag>Aag	p.E108K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	108	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCATAGCGCTCTTTGAGGTTG	0.443000														81			60		0	0	1	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45971094	45971094	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45971094G>A	uc002zfi.1	-	0	295	c.248C>T	c.(247-249)tCt>tTt	p.S83F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	83	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						CTGGCAGCTAGACTGCTGGCA	0.692000														149			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179666989	179666989	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179666989G>A	uc021vsy.1	-	2	396	c.171C>T	c.(169-171)tcC>tcT	p.S57S	TTN_uc021vsz.1_Silent_p.S57S|TTN_uc021vta.1_Silent_p.S57S|TTN_uc021vtb.1_Silent_p.S57S|TTN_uc002unb.2_Silent_p.S57S|TTN_uc002und.3_Silent_p.S57S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	57	Ig-like 1.						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)			CATCGCTAAAGGAGATCTGCA	0.527000														61			23		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805108	54805108	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:54805108C>T	uc003pck.3	+	4	1455	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	447										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTTTGCCAATCGGCTTGCGCA	0.458000														58			13		0	0	1	0	0
ZNF200	7752	broad.mit.edu	37	16	3274511	3274511	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3274511G>A	uc002cuj.2	-	4	1201	c.569C>T	c.(568-570)tCc>tTc	p.S190F	ZNF200_uc002cum.3_Missense_Mutation_p.S189F|ZNF200_uc002cuk.2_Missense_Mutation_p.S190F|ZNF200_uc010bti.2_Missense_Mutation_p.S189F|ZNF200_uc002cui.2_Missense_Mutation_p.S189F|ZNF200_uc002cul.3_Missense_Mutation_p.S189F	NM_003454	NP_932354	P98182	ZN200_HUMAN	Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						AGAGACCAAGGAAGAATCCAT	0.398000														60			33		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71163622	71163622	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71163622C>T	uc002ezr.3	-	8	1299	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	HYDIN_uc010cfz.2_Missense_Mutation_p.R128Q|HYDIN_uc021tkq.1_Missense_Mutation_p.R383Q|HYDIN_uc010vmc.2_Missense_Mutation_p.R400Q|HYDIN_uc010vmd.2_Missense_Mutation_p.R410Q|HYDIN_uc002ezw.4_Missense_Mutation_p.R400Q	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	383										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)				CGCAAAGGTTCGGGACAGAAC	0.443000														31			15		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140801196	140801196	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140801196C>T	uc003lkq.2	+	0	660	c.402C>T	c.(400-402)ttC>ttT	p.F134F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Silent_p.F134F|PCDHGC5_uc003lkp.2_Silent_p.F134F	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	133	Cadherin 2.				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)			CCCCCAGCTTCCAGGAGGACG	0.473000														19			7		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107748257	107748257	+	Missense_Mutation	SNP	C	T	T	rs147178647		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107748257C>T	uc010ljo.1	-	5	494	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	LAMB4_uc003vey.2_Missense_Mutation_p.R137Q	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	137	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGCAGCAGGCCGAAAAGTCTA	0.348000														40			21		0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10395216	10395216	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10395216C>T	uc002mnq.2	+	4	1382	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*	ICAM1_uc010xle.1_Nonsense_Mutation_p.Q133*|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	355	Ig-like C2-type 4.				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CCCGAGGGCCCAGCTCCTGCT	0.642000														95			12		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56544947	56544947	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56544947C>T	uc002qmj.3	+	8	2487	c.2487C>T	c.(2485-2487)ctC>ctT	p.L829L	NLRP5_uc002qmi.3_Silent_p.L810L	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	829						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGCAGCACCTCTGGAGAATCG	0.488000														131			65		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115238117	115238117	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:115238117G>A	uc001efe.2	-	0	123	c.75C>T	c.(73-75)atC>atT	p.I25I	AMPD1_uc001eff.2_Silent_p.I25I	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	0					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)	Adenosine monophosphate(DB00131)	TTGATTCTAGGATAGCACAGT	0.388000														141			39		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329580	152329580	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152329580C>T	uc001ezw.4	-	2	755	c.682G>A	c.(682-684)Gga>Aga	p.G228R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	228	Ser-rich.						calcium ion binding|structural molecule activity	p.S227S(1)		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)			CTGTTTGATCCAGATCCAGAT	0.438000														234			80		0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35551382	35551382	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35551382G>A	uc002nxq.2	+	8	831	c.586G>A	c.(586-588)Gac>Aac	p.D196N	HPN_uc002nxr.2_Missense_Mutation_p.D196N|HPN_uc010xsh.1_Missense_Mutation_p.D165N|HPN_uc002nxt.1_Missense_Mutation_p.D80N|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	196	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	p.D196Y(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GCTCTCCGGGGACTGGGTGCT	0.672000														95			37		0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711904	20711904	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20711904G>A	uc010tld.2	+	0	954	c.954G>A	c.(952-954)atG>atA	p.M318I		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TGTTTGGAATGAGAATTCGTC	0.393000														54			27		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813752	123813752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123813752G>A	uc010sab.2	-	0	794	c.794C>T	c.(793-795)gCt>gTt	p.A265V		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTTGGACTGAGCCTCTGACAT	0.507000														139			43		0	0	1	0	0
FAM55C	91775	broad.mit.edu	37	3	101540472	101540472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:101540472C>T	uc003dvn.3	+	7	1991	c.1354C>T	c.(1354-1356)Cct>Tct	p.P452S	FAM55C_uc010hpn.3_Missense_Mutation_p.P452S	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	452						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						CAGCACCTTCCCTTTGGAAGT	0.547000														58			20		0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80626663	80626663	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:80626663G>A	uc003khl.4	-	13	1543	c.1488C>T	c.(1486-1488)ctC>ctT	p.L496L	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	496	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TAGCATGGATGAGAAATCCGG	0.433000														69			6		0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150530026	150530026	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:150530026G>A	uc009wlw.3	+	12	2331	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K	ADAMTSL4_uc001euw.3_Missense_Mutation_p.E702K|ADAMTSL4_uc001eux.3_Missense_Mutation_p.E702K|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.E663K|ADAMTSL4_uc009wlx.3_5'Flank	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	702	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGAACTGGATGAACGCAGCTG	0.672000														8			5		0	0	1	0	0
C20orf118	140711	broad.mit.edu	37	20	35507460	35507460	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:35507460C>T	uc002xgg.1	+	2	214	c.206C>T	c.(205-207)cCa>cTa	p.P69L	C20orf118_uc021wcz.1_Missense_Mutation_p.P69L	NM_080628	NP_542195	A0PJX2	CT118_HUMAN	Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA.	69								p.F68C(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	9		Myeloproliferative disorder(115;0.00874)				TTTCACTTCCCACCAAGAGTC	0.622000														177			61		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432595	104432595	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104432595G>A	uc004bbp.2	-	2	2700	c.2099C>T	c.(2098-2100)cCa>cTa	p.P700L	GRIN3A_uc004bbq.1_Missense_Mutation_p.P700L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	700					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CAAACCAAATGGACTCTTCCA	0.493000														135			11		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43926898	43926898	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43926898G>A	uc002xnn.2	-	6	1525	c.1338C>T	c.(1336-1338)gcC>gcT	p.A446A	MATN4_uc002xnp.2_Silent_p.A364A|MATN4_uc002xno.2_Silent_p.A405A|MATN4_uc010zwr.1_Silent_p.A394A|MATN4_uc002xnr.1_Silent_p.A446A	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	487	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GCACGTTAAGGGCACGGGGCC	0.662000														68			38		0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120188070	120188070	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:120188070C>T	uc021qrk.1	+	11	1308	c.1274C>T	c.(1273-1275)tCa>tTa	p.S425L	POU2F3_uc001pxc.3_Missense_Mutation_p.S423L|POU2F3_uc010rzk.2_Missense_Mutation_p.S377L|POU2F3_uc010rzl.2_Missense_Mutation_p.S353L|POU2F3_uc001pxe.1_Missense_Mutation_p.S208L	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	423	Ser-rich.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TTTAACTCTTCAGGGTAAGGT	0.532000														78			28		0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104239033	104239033	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104239033G>A	uc004bbm.3	-	1	664	c.342C>T	c.(340-342)ggC>ggT	p.G114G	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.G114G	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	114						integral to membrane											CGTAGTGGAAGCCAGGCTGCC	0.622000														54			5		0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66611005	66611005	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:66611005G>A	uc001sth.3	+	5	745	c.643G>A	c.(643-645)Gtt>Att	p.V215I	IRAK3_uc010ssy.2_Missense_Mutation_p.V154I	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	215	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TGAGCTTGAAGTTTTACTACT	0.363000														658			167		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11835445	11835445	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11835445C>T	uc002gne.3	+	63	12288	c.12220C>T	c.(12220-12222)Cgc>Tgc	p.R4074C	DNAH9_uc010coo.3_Missense_Mutation_p.R3292C|DNAH9_uc002gnf.3_Missense_Mutation_p.R386C	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4074	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGATGGAATCGCTCATACCC	0.502000														63			49		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826247	43826247	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:43826247C>T	uc010skx.2	-	20	2956	c.2956G>A	c.(2956-2958)Gaa>Aaa	p.E986K	ADAMTS20_uc001rno.1_Missense_Mutation_p.E140K|ADAMTS20_uc001rnp.1_Missense_Mutation_p.E140K	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	986	TSP type-1 4.					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)		CGAGACCTTTCCCCTCCTCCA	0.368000														83			17		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72190375	72190375	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:72190375C>T	uc001xms.3	+	15	4644	c.4283C>T	c.(4282-4284)tCc>tTc	p.S1428F	SIPA1L1_uc001xmt.3_Missense_Mutation_p.S1407F|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S1407F|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S1428F|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S882F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1428	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACCATGAGCTCCCGACACTCT	0.547000														78			27		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169656259	169656259	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:169656259C>T	uc003fgd.3	+	8	1573	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	SAMD7_uc003fge.3_Missense_Mutation_p.P436S|SAMD7_uc011bpo.2_Missense_Mutation_p.P337S	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	436										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TACAATAATTCCTAAAGGAAT	0.398000														32			9		0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172628472	172628472	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:172628472G>A	uc001gis.3	+	0	288	c.131G>A	c.(130-132)aGg>aAg	p.R44K	FASLG_uc001git.3_Missense_Mutation_p.R44K	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	44	Pro-rich.				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GGTCAAAGGAGGccaccacca	0.657000														20			10		0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54605263	54605263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:54605263C>T	uc001cwv.1	-	3	2128	c.1280G>A	c.(1279-1281)gGa>gAa	p.G427E		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	427						extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						TCTTAGGGGTCCCGAGAGTGG	0.582000														31			16		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45810908	45810908	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45810908G>A	uc010gpt.1	+	10	1540	c.1440_splice	c.e10+1	p.K480_splice	TRPM2_uc002zet.1_Splice_Site_p.K480_splice|TRPM2_uc002zeu.1_Splice_Site_p.K480_splice|TRPM2_uc021wjr.1_Splice_Site|TRPM2_uc002zew.1_Splice_Site_p.K480_splice|TRPM2_uc002zex.1_Splice_Site_p.K266_splice|TRPM2_uc002zey.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	480						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGCAGTGGAAGGTAAGTCTTC	0.577000														64			21		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72975151	72975151	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:72975151C>T	uc003pga.3	+	20	3330	c.3253C>T	c.(3253-3255)Cat>Tat	p.H1085Y	RIMS1_uc011dyb.2_Intron|RIMS1_uc003pgc.3_Intron|RIMS1_uc010kaq.3_Intron|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Intron|RIMS1_uc011dyd.2_Intron|RIMS1_uc003pge.3_Intron|RIMS1_uc003pgf.3_Intron|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Intron|RIMS1_uc011dye.2_Intron|RIMS1_uc011dyf.2_Intron|RIMS1_uc010kas.1_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1085					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.H1085N(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CATTTCCCTTCATCATGAATG	0.323000														46			5		0	0	1	0	0
GPA33	10223	broad.mit.edu	37	1	167032894	167032894	+	Missense_Mutation	SNP	C	T	T	rs145965350		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167032894C>T	uc001gea.1	-	3	840	c.496G>A	c.(496-498)Gag>Aag	p.E166K		NM_005814	NP_005805	Q99795	GPA33_HUMAN	Homo sapiens glycoprotein A33 (transmembrane) (GPA33), mRNA.	166	Ig-like C2-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGTGAGCCCTCCTTTGATTGG	0.562000														103			33		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354218	57354218	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:57354218G>A	uc003xsz.2	-	1	498	c.417C>T	c.(415-417)ttC>ttT	p.F139F	PENK_uc003xta.3_Silent_p.F139F	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	139					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCTTCTTCATGAAGCCCCCAT	0.532000														105			21		0	0	1	0	0
C17orf59	54785	broad.mit.edu	37	17	8092541	8092541	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:8092541G>A	uc010vut.2	-	0	1024	c.918C>T	c.(916-918)tcC>tcT	p.S306S		NM_017622	NP_060092	Q96GS4	CQ059_HUMAN	Homo sapiens chromosome 17 open reading frame 59 (C17orf59), mRNA.	306										large_intestine(2)|lung(3)|urinary_tract(1)	6						CTTCACCTAAGGAGTCCACAG	0.677000														51			23		0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21992598	21992598	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:21992598G>A	uc002nqj.3	-	3	371	c.241C>T	c.(241-243)Cat>Tat	p.H81Y	ZNF43_uc002nql.3_Missense_Mutation_p.H75Y|ZNF43_uc002nqm.3_Missense_Mutation_p.H75Y|ZNF43_uc010ecv.3_Missense_Mutation_p.H75Y|ZNF43_uc002nqk.3_Missense_Mutation_p.H11Y	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGGGTAAAATGAGAACACATA	0.294000														90			13		0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36952410	36952410	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36952410G>A	uc002xib.2	+	7	969	c.907G>A	c.(907-909)Gag>Aag	p.E303K		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	303					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TGTATACCAAGAGGCTGGGGT	0.562000														43			11		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46633526	46633526	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:46633526C>T	uc009zkj.1	-	2	743	c.58G>A	c.(58-60)Gag>Aag	p.E20K	SLC38A1_uc001rpb.3_Missense_Mutation_p.E20K|SLC38A1_uc001rpc.3_Missense_Mutation_p.E20K|SLC38A1_uc001rpd.3_Missense_Mutation_p.E20K|SLC38A1_uc001rpe.3_Missense_Mutation_p.E20K|SLC38A1_uc010slh.2_Intron|SLC38A1_uc001rpa.3_Missense_Mutation_p.E20K	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	20					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTATCATCCTCGGGCACTGTC	0.353000														104			29		0	0	1	0	0
CCBP2	1238	broad.mit.edu	37	3	42906678	42906678	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42906678C>T	uc003cme.3	+	2	862	c.684C>T	c.(682-684)ttC>ttT	p.F228F	CCBP2_uc003cmf.3_Silent_p.F228F|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.F228F	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	228					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCATGATCTTCTTCTACTCCC	0.572000														164			84		0	0	1	0	0
CCDC83	220047	broad.mit.edu	37	11	85627240	85627240	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:85627240G>A	uc001pbg.1	+	10	1649	c.1137G>A	c.(1135-1137)atG>atA	p.M379I	CCDC83_uc001pbh.1_Missense_Mutation_p.M348I|CCDC83_uc001pbj.1_Missense_Mutation_p.M248I|CCDC83_uc001pbi.1_Non-coding_Transcript	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA.	348										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ACACTGATATGAAGTACTTAC	0.348000														112			63		0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606647	55606647	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55606647G>A	uc010rio.2	+	0	420	c.420G>A	c.(418-420)caG>caA	p.Q140Q		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S139Y(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCATCTCCCAGAAACTCTGTG	0.463000														80			39		0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29194715	29194715	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:29194715G>A	uc003xhm.3	-	3	1485	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	DUSP4_uc003xhl.3_Missense_Mutation_p.S247F	NM_001394	NP_001385	Q13115	DUS4_HUMAN	Homo sapiens dual specificity phosphatase 4 (DUSP4), transcript variant 1, mRNA.	338	Tyrosine-protein phosphatase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|endoderm formation|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CGCAGCACAGGACGTGGCCAG	0.662000														26			9		0	0	1	0	0
ABHD5	51099	broad.mit.edu	37	3	43756497	43756497	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:43756497C>T	uc003cmx.3	+	4	830	c.720C>T	c.(718-720)ttC>ttT	p.F240F		NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN	Homo sapiens abhydrolase domain containing 5 (ABHD5), mRNA.	240					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		CTTCAATGTTCGAAGACGATA	0.368000														192			17		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666412	34666412	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34666412G>A	uc001bxt.3	+	2	1887	c.1049G>A	c.(1048-1050)gGg>gAg	p.G350E	C1orf94_uc001bxs.4_Missense_Mutation_p.G160E	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	160							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AAGGGTCAAGGGAGCCTCTTT	0.597000														89			40		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263531	140263531	+	Missense_Mutation	SNP	G	A	A	rs139225969	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140263531G>A	uc003lif.2	+	0	1678	c.1678G>A	c.(1678-1680)Gac>Aac	p.D560N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.D560N|PCDHAC2_uc003lid.3_Missense_Mutation_p.D560N	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	574	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGAGAACGACAACGCTCC	0.697000														114			47		0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84025043	84025043	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:84025043C>T	uc003pjy.3	-	5	955	c.690G>A	c.(688-690)gaG>gaA	p.E230E	ME1_uc011dzb.2_Silent_p.E155E|ME1_uc011dzc.2_Silent_p.E64E	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	230					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AAGAAACTGCCTCCATGAATT	0.308000														67			34		0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813326	248813326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248813326G>A	uc010pzo.2	-	0	860	c.860C>T	c.(859-861)cCa>cTa	p.P287L		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTAAATGAGTGGATTGAGCAT	0.493000														69			20		0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437455	125437455	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125437455G>A	uc011lzb.2	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						ATTCTCTTGGGACTCTCCTCT	0.423000														118			37		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088430	9088430	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9088430G>A	uc002mkp.3	-	0	3589	c.3385C>T	c.(3385-3387)Ctg>Ttg	p.L1129L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1129	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						TGTGGAGTCAGAGCTGAGCTT	0.458000														55			20		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81654595	81654595	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:81654595G>A	uc021ssk.1	-	3	360	c.360C>T	c.(358-360)ttC>ttT	p.F120F	TMC3_uc021ssj.1_Silent_p.F120F|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Silent_p.F120F	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	120						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CCCAGGGAATGAAGATGACCA	0.483000														19			12		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21742392	21742392	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:21742392G>A	uc003svc.3	+	37	6297	c.6266G>A	c.(6265-6267)cGa>cAa	p.R2089Q		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2089					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2089*(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTCTGAAACGAGGAGATAAA	0.398000									Kartagener syndrome					22			9		0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71255522	71255522	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71255522C>T	uc011cas.2	+	2	278	c.197C>T	c.(196-198)cCc>cTc	p.P66L	SMR3A_uc003hfh.3_Missense_Mutation_p.P66L	NM_006685	NP_006676	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3B (SMR3B), mRNA.	70	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CCTCCCGCACCCTATGGTCCA	0.597000														117			47		0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113218404	113218404	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:113218404G>A	uc003eag.4	-	3	464	c.173C>T	c.(172-174)tCg>tTg	p.S58L	SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc011bie.1_Missense_Mutation_p.S70L|SPICE1_uc003eai.1_Missense_Mutation_p.S58L	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.	58					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TCTATTCTTCGATTTGTGTAT	0.368000														29			15		0	0	1	0	0
SLC16A1	6566	broad.mit.edu	37	1	113460565	113460565	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:113460565G>A	uc001ecx.3	-	3	1295	c.463C>T	c.(463-465)Cct>Tct	p.P155S	SLC16A1_uc001ecy.3_Missense_Mutation_p.P155S|SLC16A1_uc001ecz.3_Missense_Mutation_p.P155S	NM_001166496	NP_003042	P53985	MOT1_HUMAN	Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1), transcript variant 2, mRNA.	155					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	AGGAACACAGGGCTGCCTGCC	0.507000														71			23		0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30126365	30126365	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30126365G>A	uc003npo.3	-	2	643	c.567C>T	c.(565-567)ttC>ttT	p.F189F	TRIM10_uc003npn.2_Silent_p.F189F	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	189						cytoplasm	zinc ion binding	p.F189F(1)		ovary(1)	1						TCAGGTGTGCGAACTCAGAAA	0.517000														225			100		0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222802183	222802183	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:222802183C>T	uc001hnl.3	+	3	1630	c.1621C>T	c.(1621-1623)Cac>Tac	p.H541Y	MIA3_uc009xea.1_Missense_Mutation_p.H377Y	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	541					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	p.L540L(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGGAATGCTCCACGAAGAAAA	0.413000														146			16		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49210260	49210260	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:49210260G>A	uc002rww.3	-	6	680	c.570C>T	c.(568-570)ttC>ttT	p.F190F	FSHR_uc010fbn.3_Silent_p.F164F|FSHR_uc002rwx.3_Silent_p.F190F|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	190					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.A189fs*8(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GGGTTCCATTGAATGCACAGT	0.373000									Gonadal Dysgenesis, 46 XX					57			14		0	0	1	0	0
PHYHIP	9796	broad.mit.edu	37	8	22079283	22079283	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:22079283C>T	uc003xbk.4	-	5	1270	c.576G>A	c.(574-576)acG>acA	p.T192T	PHYHIP_uc003xbj.4_Silent_p.T192T	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.	192										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GGGGCTGGCCCGTGTTGAACT	0.627000														10			5		0	0	1	0	0
NFAM1	150372	broad.mit.edu	37	22	42807656	42807656	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:42807656G>A	uc003bcn.4	-	1	246	c.208C>T	c.(208-210)Cca>Tca	p.P70S		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	Homo sapiens NFAT activating protein with ITAM motif 1 (NFAM1), mRNA.	70	Ig-like V-type.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						GGAGTGTATGGATAGGTGATC	0.547000														65			38		0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151509770	151509770	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151509770C>T	uc009wmw.3	+	20	3704	c.3560C>T	c.(3559-3561)tCg>tTg	p.S1187L	CGN_uc010pde.2_Missense_Mutation_p.S181L	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	1181	Tail.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TACGATCCCTCGTCCATTGCA	0.552000														65			19		0	0	1	0	0
B3GNT7	93010	broad.mit.edu	37	2	232263400	232263400	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:232263400C>T	uc002vrs.3	+	1	1150	c.970C>T	c.(970-972)Ccg>Tcg	p.P324S		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.	324					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GGAGCTCTACCCGATCGACGA	0.672000														53			9		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467458	10467458	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10467458C>T	uc003wtc.3	-	3	4379	c.4150G>A	c.(4150-4152)Gga>Aga	p.G1384R		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1384					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)		CCTTGCAGTCCTCCTTCTGGC	0.527000														360			123		0	0	1	0	0
RNMT	8731	broad.mit.edu	37	18	13741672	13741672	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:13741672C>T	uc002ksk.1	+	5	1023	c.956C>T	c.(955-957)cCc>cTc	p.P319L	RNMT_uc002ksl.1_Missense_Mutation_p.P319L|RNMT_uc002ksm.1_Missense_Mutation_p.P319L|RNMT_uc010dlk.2_Missense_Mutation_p.P319L|RNMT_uc010xae.1_Non-coding_Transcript	NM_003799	NP_003790	O43148	MCES_HUMAN	Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA.	319					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	RNA binding|mRNA (guanine-N7-)-methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GGTACTACTCCCAATAGCTTT	0.343000														89			17		0	0	1	0	0
FAM35B2	439965	broad.mit.edu	37	10	47380998	47380998	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:47380998G>A	uc010qfz.2	+	0		c.1279G>A								Homo sapiens family with sequence similarity 35, member B2 (pseudogene) (FAM35B2), non-coding RNA.																		CTGAATTTAAGAGTATTAAAA	0.328000														47			16		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49001477	49001477	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49001477C>T	uc002pjk.3	-	11	2936	c.2936G>A	c.(2935-2937)gGg>gAg	p.G979E		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTCGGGGGACCCCAGGGCCCC	0.642000														102			34		0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34526853	34526853	+	Silent	SNP	C	T	T	rs17347322	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34526853C>T	uc002xek.1	+	15	2646	c.2535C>T	c.(2533-2535)cgC>cgT	p.R845R		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	845					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AGAAGCCCCGCGCCTATTACC	0.632000														51			4		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267675	71267675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:71267675G>A	uc001xmm.3	-	1	529	c.529C>T	c.(529-531)Cct>Tct	p.P177S	MAP3K9_uc001xml.3_Missense_Mutation_p.P177S	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	177	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TCCTCATCAGGGTCGTGGCGA	0.537000														142			15		0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67943846	67943846	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:67943846C>T	uc004dxb.3	+	13	3291	c.3077C>T	c.(3076-3078)cCg>cTg	p.P1026L	STARD8_uc004dxa.3_Missense_Mutation_p.P946L|STARD8_uc004dxc.4_Missense_Mutation_p.P946L	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	946					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TCCCTGGATCCGGAACAACCT	0.607000														23			24		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70960308	70960308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70960308C>T	uc001swb.4	-	12	3187	c.3157G>A	c.(3157-3159)Gaa>Aaa	p.E1053K	PTPRB_uc010sto.2_Intron|PTPRB_uc010stp.2_Missense_Mutation_p.E963K|PTPRB_uc001swc.4_Missense_Mutation_p.E1271K|PTPRB_uc001swa.4_Missense_Mutation_p.E1183K|PTPRB_uc001swd.4_Missense_Mutation_p.E1270K|PTPRB_uc009zrr.2_Missense_Mutation_p.E1150K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1053	Fibronectin type-III 12.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTTAGATCTTCAAATTTGTGT	0.448000														30			33		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47628897	47628897	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:47628897C>T	uc001rpq.3	+	1	576	c.51C>T	c.(49-51)ttC>ttT	p.F17F	FAM113B_uc001rpn.3_Silent_p.F17F|FAM113B_uc021qxi.1_Silent_p.F17F	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	17							hydrolase activity	p.F17F(4)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					ACAATAAGTTCGTGGTCATCC	0.592000														23			31		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99448892	99448892	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:99448892C>T	uc002szf.1	-	4	753	c.459G>A	c.(457-459)atG>atA	p.M153I		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	153										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						CCTCAGAGCTCATGCCGGCAT	0.572000														54			30		0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212276201	212276201	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:212276201C>T	uc009xdc.3	+	14	2426	c.2112C>T	c.(2110-2112)agC>agT	p.S704S	DTL_uc010ptb.2_Silent_p.S662S|DTL_uc001hiz.4_Silent_p.S433S	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA.	704					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCACGCCCAGCTCCATGAGGA	0.388000														43			20		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134968307	134968307	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:134968307C>T	uc003eqt.3	+	14	3195	c.2820C>T	c.(2818-2820)ctC>ctT	p.L940L	EPHB1_uc003equ.3_Silent_p.L501L	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	940	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCACCTCCCTCCAGCTGGTCA	0.547000														89			11		0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77719701	77719701	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:77719701C>T	uc001xtf.2	+	22	2414	c.2202C>T	c.(2200-2202)tcC>tcT	p.S734S	TMEM63C_uc010asq.1_Silent_p.S734S	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	734						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GCAGCACCTCCTCCACGCCCA	0.617000														16			5		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995889	140995889	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140995889G>A	uc004fbt.3	+	3	3023	c.2699G>A	c.(2698-2700)aGc>aAc	p.S900N	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_Missense_Mutation_p.S559N	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	900							protein binding	p.S900I(2)|p.S900R(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)					TTGATAGAGAGCGAGCCCTTG	0.473000										HNSCC(15;0.026)				82			82		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63680336	63680336	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:63680336G>A	uc011kdn.2	+	3	907	c.907G>A	c.(907-909)Ggc>Agc	p.G303S		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TGAAGAATGTGGCAAAGCCTT	0.448000														72			5		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16870169	16870169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16870169C>T	uc002neu.4	+	6	2325	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	NWD1_uc002net.4_Missense_Mutation_p.R500C|NWD1_uc002nev.4_Missense_Mutation_p.R429C|NWD1_uc021uqg.1_Missense_Mutation_p.R500C	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	635	NACHT.						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						GGTGCGGCTTCGTCGGGATCT	0.652000														15			8		0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104075171	104075171	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104075171G>A	uc004bbb.3	+	5	1127	c.728G>A	c.(727-729)gGc>gAc	p.G243D	LPPR1_uc011lvi.2_Missense_Mutation_p.G219D|LPPR1_uc004bbc.3_Missense_Mutation_p.G243D|LPPR1_uc010mtc.3_Missense_Mutation_p.G227D	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	243						integral to membrane	catalytic activity										TTCCTGACAGGCCTCAACCGG	0.547000														115			28		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23872985	23872985	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23872985C>T	uc001wjv.3	-	8	809	c.738G>A	c.(736-738)ggG>ggA	p.G246G	MYH6_uc010akp.2_Silent_p.G246G	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	246	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			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)		TAATGAATTTCCCCTGGGGAC	0.567000														17			6		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13323499	13323499	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:13323499C>T	uc002mwy.3	-	40	6232	c.5996G>A	c.(5995-5997)gGg>gAg	p.G1999E	CACNA1A_uc002mwx.3_Missense_Mutation_p.G705E|CACNA1A_uc010dzc.2_Missense_Mutation_p.G1525E|CACNA1A_uc010xnd.2_Missense_Mutation_p.G2002E|CACNA1A_uc021ups.1_Missense_Mutation_p.G1999E|CACNA1A_uc010xne.2_Missense_Mutation_p.G2002E|CACNA1A_uc010dze.2_Missense_Mutation_p.G1999E|CACNA1A_uc021upt.1_Missense_Mutation_p.G2000E|CACNA1A_uc002mwv.3_Missense_Mutation_p.G516E	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	2000					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCCAGGTCCCCCTTCCTGCGT	0.687000														8			6		0	0	1	0	0
PRHOXNB	646625	broad.mit.edu	37	13	28562602	28562602	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:28562602G>A	uc010aan.1	-	0	173	c.173C>T	c.(172-174)tCa>tTa	p.S58L		NM_001105577	NP_001099047	A6NGE7	URAD_HUMAN	Homo sapiens parahox cluster neighbor (PRHOXNB), mRNA.	58					allantoin biosynthetic process|purine base metabolic process	peroxisome	carboxy-lyase activity	p.Q57P(1)		large_intestine(1)|lung(1)|stomach(1)	3	all_cancers(110;0.12)|all_hematologic(3;0.0119)|Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		AGCCTTACCTGACTGTGCAAG	0.433000														45			18		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10088351	10088351	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10088351C>T	uc003buw.3	+	14	1300	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	FANCD2_uc003bux.1_Nonsense_Mutation_p.R408*|FANCD2_uc003buy.1_Nonsense_Mutation_p.R408*|FANCD2_uc010hcw.1_5'Flank	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	408					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAATAAGATTCGATCAGGCTG	0.368000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					116			25		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227946862	227946862	+	Silent	SNP	C	T	T	rs137880920	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:227946862C>T	uc021vxr.1	-	21	1766	c.1665G>A	c.(1663-1665)gcG>gcA	p.A555A	COL4A4_uc021vxs.1_Silent_p.A555A	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	555	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGTCACCCTTCGCCCCTTTGT	0.418000														102			98		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94586593	94586593	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94586593G>A	uc001dqh.3	-	0	113	c.9C>T	c.(7-9)ttC>ttT	p.F3F	ABCA4_uc010otn.1_Silent_p.F3F	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	3					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)		TCTGTCTCACGAAGCCCATGC	0.507000														71			37		0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169374	90169374	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:90169374C>T	uc003hsm.1	-	1	2407	c.1888G>A	c.(1888-1890)Gcc>Acc	p.A630T	GPRIN3_uc021xqb.1_Missense_Mutation_p.A630T	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	630										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CGTGGGCTGGCTTTGACGGAG	0.582000														83			40		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	159971	159971	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000192.1:159971G>A	uc010yih.1	-	11		c.2451C>T						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											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)				GGATGTTAAGGAAGGGTACGC	0.602000														27			5		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140167494	140167494	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:140167494G>A	uc003etn.3	+	5	1111	c.921G>A	c.(919-921)ggG>ggA	p.G307G	CLSTN2_uc003etm.2_Silent_p.G307G	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	307					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						ATTACATTGGGAAGGGTTGTG	0.483000										HNSCC(16;0.037)				119			22		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123249380	123249380	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:123249380C>T	uc003ieh.3	+	63	11162	c.11117C>T	c.(11116-11118)tCa>tTa	p.S3706L	KIAA1109_uc003iem.3_Missense_Mutation_p.S97L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3706					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGAGGCTTTTCACCAGGCATT	0.443000														107			48		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155203216	155203216	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:155203216T>C	uc021xge.1	-	21	3204	c.2927A>G	c.(2926-2928)aAc>aGc	p.N976S	PLCH1_uc021xgd.1_Missense_Mutation_p.N976S|PLCH1_uc021xgf.1_Missense_Mutation_p.N938S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	976					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCCAGAAGGTTTCTGTCAAC	0.468000														103			35		0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25773505	25773505	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:25773505G>A	uc003nfe.3	+	6	828	c.709G>A	c.(709-711)Gga>Aga	p.G237R	SLC17A4_uc011djx.2_Intron|SLC17A4_uc003nff.1_Intron|SLC17A4_uc003nfg.3_Missense_Mutation_p.G174R|SLC17A4_uc010jqa.3_5'Flank	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	237					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTTCCTAGGAGGAATTGGCTG	0.443000														94			45		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13397666	13397666	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:13397666C>T	uc002mwy.3	-	19	3440	c.3204G>A	c.(3202-3204)atG>atA	p.M1068I	CACNA1A_uc010dzc.2_Missense_Mutation_p.M594I|CACNA1A_uc010xnd.2_Missense_Mutation_p.M1071I|CACNA1A_uc021ups.1_Missense_Mutation_p.M1068I|CACNA1A_uc010xne.2_Missense_Mutation_p.M1071I|CACNA1A_uc010dze.2_Missense_Mutation_p.M1068I|CACNA1A_uc021upt.1_Missense_Mutation_p.M1069I	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1069					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGTTGTTCTTCATGTTGTCAA	0.672000														27			11		0	0	1	0	0
YAE1D1	57002	broad.mit.edu	37	7	39611996	39611996	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:39611996C>T	uc003thc.4	+	2	387	c.372C>T	c.(370-372)atC>atT	p.I124I		NM_020192	NP_064577	Q9NRH1	CG036_HUMAN	Homo sapiens Yae1 domain containing 1 (YAE1D1), mRNA.	124																	TGAAATCAATCACTCCACCGT	0.368000														93			22		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561502	145561502	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:145561502C>T	uc001eob.1	+	9	1298	c.1190C>T	c.(1189-1191)cCa>cTa	p.P397L	ANKRD35_uc010oyx.1_Missense_Mutation_p.P240L	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	397										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACAGTAAATCCAGTATTAGCT	0.552000														54			18		0	0	1	0	0
ZSCAN23	222696	broad.mit.edu	37	6	28403867	28403868	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28403867_28403868GG>AA	uc003nli.4	-	1	357_358	c.176_177CC>TT	c.(175-177)tcc>tTT	p.S59F	ZSCAN23_uc003nlh.2_Non-coding_Transcript|ZSCAN23_uc010jrf.1_Intron|ZSCAN23_uc011dli.2_Missense_Mutation_p.S59F	NM_001012455	NP_001012458	Q3MJ62	ZSC23_HUMAN	Homo sapiens zinc finger and SCAN domain containing 23 (ZSCAN23), mRNA.	59	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|prostate(1)|stomach(2)	4						GGGGCCCAGGGGACTCCTGATA	0.554000														41			19		0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125435305	125435305	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:125435305G>A	uc001ugy.3	-	21	3013	c.2914C>T	c.(2914-2916)Ctt>Ttt	p.L972F	DHX37_uc001ugz.1_Missense_Mutation_p.L59F	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	972							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TCTTTGAAAAGGACGGAGCTG	0.582000														54			24		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941685	144941685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144941685G>A	uc003zaa.1	-	0	5750	c.5737C>T	c.(5737-5739)Ctc>Ttc	p.L1913F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1913						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTCATGGAGGCTCATGACC	0.662000														37			9		0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	60995608	60995608	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:60995608C>T	uc002sai.3	+	3	499	c.250C>T	c.(250-252)Ctc>Ttc	p.L84F	PAPOLG_uc002saj.3_5'UTR|PAPOLG_uc002sak.3_5'UTR	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA.	84					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			ATTTTAGAACCTCCCACCTTC	0.383000														109			10		0	0	1	0	0
CNOT6L	246175	broad.mit.edu	37	4	78641627	78641627	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:78641627G>A	uc011ccd.2	-	11	1757	c.1626C>T	c.(1624-1626)ctC>ctT	p.L542L	CNOT6L_uc003hks.3_Silent_p.L542L	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	542					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CAAGAGGCAGGAGTGGAGGGT	0.507000														120			28		0	0	1	0	0
GABRR2	2570	broad.mit.edu	37	6	89975401	89975401	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:89975401G>A	uc003pnb.2	-	6	903	c.895C>T	c.(895-897)Ctg>Ttg	p.L299L	GABRR2_uc011dzx.1_Silent_p.L175L	NM_002043	NP_002034	P28476	GBRR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA.	299					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.T299K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		ATGACCATCAGAGTGGCAGGG	0.512000														38			33		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99448865	99448865	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:99448865C>T	uc002szf.1	-	4	780	c.486G>A	c.(484-486)agG>agA	p.R162R		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	162										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						CTGGGGGGCTCCTGGGCAGCC	0.617000														68			32		0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850804	71850804	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:71850804G>A	uc001ory.1	+	4	843	c.793G>A	c.(793-795)Gag>Aag	p.E265K	FOLR3_uc001orx.1_Missense_Mutation_p.E222K			P41439	FOLR3_HUMAN	Homo sapiens folate receptor 3 (gamma) (FOLR3), mRNA.	221					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CAACCCCAATGAGGAGGTGGC	0.572000														42			18		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41004526	41004526	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41004526G>A	uc003jmj.4	-	36	4606	c.4116C>T	c.(4114-4116)atC>atT	p.I1372I	HEATR7B2_uc003jmi.4_Silent_p.I927I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1372							binding	p.I1372T(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						GCAGCTCCAGGATTTTTTTTA	0.438000														114			36		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176721426	176721426	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176721426C>T	uc003mfr.4	+	22	7195	c.7057C>T	c.(7057-7059)Cct>Tct	p.P2353S	NSD1_uc003mft.4_Missense_Mutation_p.P2084S|NSD1_uc011dfx.2_Missense_Mutation_p.P2001S|NSD1_uc021yip.1_Missense_Mutation_p.P177S	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2353	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACTGGAAAGACCTCTGGGGAC	0.592000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				45			13		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108782046	108782046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108782046C>T	uc003dxl.3	-	9	935	c.848G>A	c.(847-849)gGa>gAa	p.G283E	MORC1_uc011bhn.2_Missense_Mutation_p.G283E	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	283					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTAAATGCTCCTTTAAAAGA	0.303000														101			15		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114136163	114136163	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:114136163C>T	uc001kzu.3	+	0	208	c.96C>T	c.(94-96)agC>agT	p.S32S	ACSL5_uc001kzs.3_Intron|ACSL5_uc001kzt.3_Intron	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	0					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGCCGGGAAGCCCCCATTCAC	0.602000														108			15		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117171115	117171115	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:117171115C>T	uc003vjd.3	+	3	568	c.436C>T	c.(436-438)Cat>Tat	p.H146Y	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	146	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTTGGCCTTCATCACATTGG	0.418000									Cystic Fibrosis					56			8		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106456510	106456510	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:106456510G>A	uc003ymd.3	+	2	225	c.202G>A	c.(202-204)Gat>Aat	p.D68N		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	68					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTTTCCAGGTGATGATGAAGG	0.463000														16			6		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810368	123810368	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123810368G>A	uc001pzk.1	+	0	45	c.45G>A	c.(43-45)ctG>ctA	p.L15L		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTGTTCTACTGGGGCTCTCTC	0.418000														84			30		0	0	1	0	0
MYL10	93408	broad.mit.edu	37	7	101256829	101256829	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:101256829G>A	uc003uyr.3	-	7	785	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S		NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN	Homo sapiens myosin, light chain 10, regulatory (MYL10), mRNA.	203	EF-hand 3.					mitochondrion	calcium ion binding	p.P203S(2)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						ACATCTGGGGGAAATGCTGCA	0.557000														94			33		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27212761	27212761	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:27212761C>T	uc011lno.2	+	15	3056	c.2614C>T	c.(2614-2616)Cgc>Tgc	p.R872C	TEK_uc003zqi.4_Missense_Mutation_p.R915C|TEK_uc011lnp.2_Missense_Mutation_p.R767C	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	915	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GGACTTCCTTCGCAAGAGCCG	0.582000														39			7		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104048474	104048474	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:104048474G>A	uc001tjw.3	+	12	1735	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	517	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAGCAACAATGAGGTGAGTAT	0.463000														86			32		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141079606	141079606	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141079606G>A	uc002tvj.1	-	81	13538	c.12566C>T	c.(12565-12567)cCt>cTt	p.P4189L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4189					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCCCCAGAAGGATTTAGCAA	0.373000										TSP Lung(27;0.18)				60			15		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92278668	92278668	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:92278668C>T	uc001xzu.4	-	2	480	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	TC2N_uc001xzt.4_Missense_Mutation_p.E97K|TC2N_uc010auc.3_Missense_Mutation_p.E97K|TC2N_uc001xzv.4_Missense_Mutation_p.E97K	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	97						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TCAAGTTCTTCCAGATGTGAA	0.303000														36			13		0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39987429	39987429	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:39987429C>T	uc010ggh.3	+	19	2573	c.2482C>T	c.(2482-2484)Ctg>Ttg	p.L828L	LPIN3_uc002xjx.3_Silent_p.L827L|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	827					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	p.L827Q(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CAGCACAGACCTGGCCAACCC	0.617000														135			12		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018170	62018171	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62018170_62018171CC>TT	uc002jds.1	-	23	5548_5549	c.5471_5472GG>AA	c.(5470-5472)ggg>gAA	p.G1824E		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1824					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCACAGTCTGCCCTGGGGGAGG	0.683000														64			6		0	0	1	0	0
MRPL1	65008	broad.mit.edu	37	4	78873665	78873665	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:78873665C>T	uc003hku.2	+	8	1080	c.882C>T	c.(880-882)ttC>ttT	p.F294F		NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA.	294							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TACGTGCTTTCCTTCGTAGTT	0.358000														77			32		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130511630	130511630	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130511630G>A	uc004bsc.3	-	4	1141	c.999C>T	c.(997-999)ggC>ggT	p.G333G	SH2D3C_uc010mxo.3_Silent_p.G173G|SH2D3C_uc004bry.3_Silent_p.G175G|SH2D3C_uc004brz.4_5'UTR|SH2D3C_uc011mak.2_5'UTR|SH2D3C_uc004bsb.3_Silent_p.G265G|SH2D3C_uc004bsa.3_Silent_p.G176G	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	333					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTGTCCCAGGCCATAGCTGG	0.647000														63			5		0	0	1	0	0
IFLTD1	160492	broad.mit.edu	37	12	25679772	25679772	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:25679772C>T	uc010sji.1	-	4	854	c.609G>A	c.(607-609)gtG>gtA	p.V203V	IFLTD1_uc001rgt.1_Silent_p.V85V|IFLTD1_uc001rgs.2_Silent_p.V182V|IFLTD1_uc010sjj.2_Silent_p.V119V|IFLTD1_uc009zjc.2_Silent_p.V203V	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.	182						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TTTGTCCATTCACATTTTGCT	0.368000														59			30		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103787	53103787	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:53103787C>T	uc003tpz.3	+	0	439	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	141										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCATCGGGATCGCGCCCCCTG	0.716000														42			19		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227919421	227919421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:227919421G>A	uc021vxr.1	-	29	2850	c.2749C>T	c.(2749-2751)Ccc>Tcc	p.P917S	COL4A4_uc021vxs.1_Missense_Mutation_p.P917S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	917	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTTTCTCCGGGAAAACCTGGG	0.512000														51			16		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174630	51174630	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:51174630C>T	uc021tif.1	-	1	1534	c.1212G>A	c.(1210-1212)gaG>gaA	p.E404E	SALL1_uc021tid.1_Silent_p.E404E|SALL1_uc021tie.1_Silent_p.E501E|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	501					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAGGGTATTTCTCTTTGTGGC	0.517000														87			30		0	0	1	0	0
THBD	7056	broad.mit.edu	37	20	23029230	23029230	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:23029230G>A	uc002wss.3	-	0	1072	c.912C>T	c.(910-912)ggC>ggT	p.G304G	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Silent_p.G245G	NM_000361	NP_000352	P07204	TRBM_HUMAN	Homo sapiens thrombomodulin (THBD), mRNA.	304	EGF-like 2.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	ACGAGTAGGAGCCCGGCTGGT	0.687000														15			8		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767661	105767661	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:105767661G>A	uc004bbs.2	+	4	818	c.748G>A	c.(748-750)Gat>Aat	p.D250N		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	250	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TGGAAAAAAAGATGCAAACAA	0.368000														48			10		0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103051925	103051925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:103051925C>T	uc003vbz.3	-	5	774	c.512G>A	c.(511-513)aGa>aAa	p.R171K	SLC26A5_uc003vbt.2_Missense_Mutation_p.R171K|SLC26A5_uc003vbu.2_Missense_Mutation_p.R171K|SLC26A5_uc003vbv.2_Missense_Mutation_p.R171K|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.R171K	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	171					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CAAGGCATCTCTGGCCTCTGT	0.448000														78			24		0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239413	21239414	+	Missense_Mutation	DNP	GG	AA	AA	rs146172550	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21239413_21239414GG>AA	uc010mis.3	-	0	565_566	c.521_522CC>TT	c.(520-522)tcc>tTT	p.S174F	IFNA14_uc003zoo.1_Non-coding_Transcript	NM_002172	NP_002163	P01570	IFN14_HUMAN	Homo sapiens interferon, alpha 14 (IFNA14), mRNA.	174					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AAAAAGAGAGGGATCTCATGAT	0.391000														357			99		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41400142	41400142	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:41400142C>T	uc002xkg.3	-	4	801	c.617G>A	c.(616-618)gGg>gAg	p.G206E	PTPRT_uc010ggj.3_Missense_Mutation_p.G206E	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	206	Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCATTCTGCCCCACATTCAC	0.493000														164			56		0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086308	56086308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56086308C>T	uc010rjf.2	+	0	526	c.526C>T	c.(526-528)Cat>Tat	p.H176Y		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CGTCATTAGTCATTTCTACTG	0.358000														79			25		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096388	167096388	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167096388G>A	uc001geb.1	+	4	2036	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	674					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGCTGATGGGGACACGACGTC	0.632000														45			7		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647813	51647813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51647813C>T	uc002pvv.1	+	1	653	c.584C>T	c.(583-585)tCc>tTc	p.S195F	SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	195	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTGCACCCCTCCACCACCCGC	0.667000														107			54		0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103566796	103566796	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:103566796C>T	uc001ymk.3	+	0	316	c.240C>T	c.(238-240)tcC>tcT	p.S80S		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	80								p.S80F(1)		cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GGCGAAGCTCCTGCTCCCTGT	0.672000														25			13		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008349	11008349	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11008349C>T	uc010oao.2	-	11	1843	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	C1orf127_uc001ars.2_Missense_Mutation_p.E450K|C1orf127_uc001arr.2_Missense_Mutation_p.E458K	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	466										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GAGCACGTTTCCTGGGGCTCT	0.662000														96			38		0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104238223	104238223	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104238223G>A	uc004bbm.3	-	1	1474	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.L384L	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	384						integral to membrane											TGTGTTTCACGAGGTTCGGCT	0.542000														53			33		0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55110892	55110892	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55110892C>T	uc010rie.2	+	0	216	c.216C>T	c.(214-216)tcC>tcT	p.S72S		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S72Y(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CCATATATTCCACTGCCATGT	0.443000														189			67		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874791	144874791	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:144874791G>A	uc021ouh.1	-	29	5119	c.4817C>T	c.(4816-4818)tCt>tTt	p.S1606F	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_Missense_Mutation_p.S1606F|PDE4DIP_uc001elx.4_Missense_Mutation_p.S1562F|PDE4DIP_uc001elv.4_Missense_Mutation_p.S613F	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1606	NBPF.				cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.R1605C(1)		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)		GCTGCTGGGAGAGCGGTGGGA	0.547000			T	PDGFRB	MPD									328			29		0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101546431	101546431	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:101546431G>A	uc004ayu.3	-	3	937	c.916C>T	c.(916-918)Cag>Tag	p.Q306*	ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Nonsense_Mutation_p.Q5*	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	306										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TTGACCAGCTGGAAGTTTCCT	0.557000														29			13		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277924	152277924	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152277924C>T	uc001ezu.1	-	2	9474	c.9438G>A	c.(9436-9438)caG>caA	p.Q3146Q		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3146	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGACCTTCCCTGGGATGTGG	0.572000									Ichthyosis					271			107		0	0	1	0	0
DUOXA1	90527	broad.mit.edu	37	15	45411507	45411507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45411507G>A	uc001zup.3	-	8	1229	c.829C>T	c.(829-831)Cac>Tac	p.H277Y	DUOXA1_uc010uem.2_Missense_Mutation_p.H232Y|DUOXA1_uc010bec.3_Missense_Mutation_p.H277Y|DUOXA1_uc001zuq.1_Missense_Mutation_p.H277Y|DUOXA1_uc001zur.1_Missense_Mutation_p.H232Y|DUOXA1_uc010bed.1_Missense_Mutation_p.H232Y	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN	Homo sapiens dual oxidase maturation factor 1 (DUOXA1), mRNA.	277					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		TTCAGCCTGTGAGGCTGCATC	0.582000														46			12		0	0	1	0	0
RGS21	431704	broad.mit.edu	37	1	192321319	192321319	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:192321319C>T	uc001gsh.3	+	3	405	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	77	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						ATTCTGAATTCATTGAAGCTG	0.388000														44			21		0	0	1	0	0
AK1	203	broad.mit.edu	37	9	130630338	130630339	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130630338_130630339GG>AA	uc004bsm.4	-	6	686_687	c.533_534CC>TT	c.(532-534)tcc>tTT	p.S178F		NM_000476	NP_000467	P00568	KAD1_HUMAN	Homo sapiens adenylate kinase 1 (AK1), mRNA.	178					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|adenylate kinase activity|protein binding			endometrium(1)|prostate(1)	2						CACTGTCCACGGAGCCCTCAGC	0.673000														51			27		0	0	1	0	0
CA3	761	broad.mit.edu	37	8	86358415	86358415	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:86358415C>T	uc003ydj.3	+	5	635	c.552C>T	c.(550-552)ttC>ttT	p.F184F	CA3_uc011lfv.2_Non-coding_Transcript	NM_005181	NP_005172	P07451	CAH3_HUMAN	Homo sapiens carbonic anhydrase III, muscle specific (CA3), mRNA.	184					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCTGCCTGTTCCCGGCATGCC	0.607000														20			8		0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168066390	168066390	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:168066390C>T	uc010pln.2	-	3	1049	c.515G>A	c.(514-516)tGg>tAg	p.W172*	GPR161_uc001gfb.3_Nonsense_Mutation_p.W20*|GPR161_uc001gfc.3_Nonsense_Mutation_p.W152*|GPR161_uc010pll.2_Nonsense_Mutation_p.W62*|GPR161_uc010plm.2_Nonsense_Mutation_p.W38*|GPR161_uc009wvo.3_Nonsense_Mutation_p.W169*|GPR161_uc001gfd.3_Nonsense_Mutation_p.W152*|GPR161_uc001gfe.1_Nonsense_Mutation_p.W152*	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	152					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D172D(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CGAGTGAAGCCAGATGTAGAC	0.552000														86			6		0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469386	72469386	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:72469386G>A	uc010izc.3	+	0	364	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	106						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		AGAAAGTGAGGAAAGGGTCCC	0.532000														84			29		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87173491	87173491	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87173491C>T	uc003uiz.2	-	17	2658	c.2165G>A	c.(2164-2166)gGa>gAa	p.G722E	ABCB1_uc011khc.2_Missense_Mutation_p.G658E	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	722	ABC transmembrane type-1 2.				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	p.G722V(2)		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)	TTGCAGGCCTCCATTTATAAT	0.358000														55			29		0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50169713	50169713	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50169713G>A	uc011arg.2	-	10	2984	c.2970C>T	c.(2968-2970)ccC>ccT	p.P990P	BRD1_uc011arf.2_Silent_p.P667P|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Silent_p.P941P|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Silent_p.P1072P	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	941	PWWP.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCGGGTAGGAGGGGTAGCCGC	0.692000														34			21		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113171163	113171163	+	Silent	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113171163T>G	uc010mtz.3	-	37	7054	c.6717A>C	c.(6715-6717)ggA>ggC	p.G2239G	SVEP1_uc010mty.3_Silent_p.G165G	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2239	Sushi 14.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATACAGGACTTCCGACTGACT	0.507000														140			17		0	0	1	0	0
C6orf221	154288	broad.mit.edu	37	6	74073386	74073386	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:74073386G>A	uc003pgt.4	+	2	510	c.457G>A	c.(457-459)Gag>Aag	p.E153K		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	153										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						GGAGGTCCGGGAGGCCGGGAC	0.677000														33			26		0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36170360	36170360	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:36170360G>A	uc003zzb.4	+	0	972	c.861G>A	c.(859-861)caG>caA	p.Q287Q		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	287					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCGGTGGCCAGAAGGCCCACG	0.572000														74			10		0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28617510	28617510	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:28617510G>A	uc002dqn.3	-	9	1507	c.915C>T	c.(913-915)tcC>tcT	p.S305S	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Silent_p.S214S|SULT1A1_uc002dqi.3_Silent_p.S214S|SULT1A1_uc002dqk.3_Silent_p.S214S|SULT1A1_uc002dql.3_Silent_p.S214S|SULT1A1_uc002dqm.3_Silent_p.S136S|SULT1A1_uc002dqp.3_Silent_p.S214S	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	214					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						CCTCTGGCAGGGAGCGCCCCA	0.547000														134			26		0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853227	35853227	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35853227C>T	uc003zyo.3	+	11	2344	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	TMEM8B_uc003zym.3_Silent_p.F352F	NM_001042590	NP_001036055	A6NDV4	TMM8B_HUMAN	Homo sapiens transmembrane protein 8B (TMEM8B), transcript variant 1, mRNA.	352					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CCAGTCTCTTCGCCCTGGGGA	0.612000														105			28		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66879961	66879961	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:66879961C>T	uc002jhq.3	-	28	4018	c.3678G>A	c.(3676-3678)aaG>aaA	p.K1226K	ABCA8_uc002jhp.3_Silent_p.K1186K|ABCA8_uc010wqq.2_Silent_p.K1226K	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1186						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCATTGATTTCTTTCCAAACT	0.284000														36			13		0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68839451	68839451	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:68839451C>T	uc001oos.2	+	10	1137	c.1021C>T	c.(1021-1023)Cta>Tta	p.L341L	TPCN2_uc009ysk.1_Non-coding_Transcript|TPCN2_uc001oor.2_Silent_p.L256L|TPCN2_uc010rqg.1_Silent_p.L341L|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	341					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTTTGAAGTCCTATCCTCCAT	0.627000														94			27		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720829	140720829	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140720829G>A	uc003ljk.2	+	0	2476	c.2291G>A	c.(2290-2292)cGg>cAg	p.R764Q	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Missense_Mutation_p.R764Q|PCDHGC5_uc011dap.2_5'Flank	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	769					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)			GCGGACTCGCGGAAGAGCCAC	0.562000														216			22		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36130237	36130237	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:36130237C>T	uc003gsq.2	-	20	3896	c.3558G>A	c.(3556-3558)acG>acA	p.T1186T		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1186	Rho-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						TCAACACAGCCGTCACATCTT	0.388000														56			20		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79429952	79429952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:79429952C>T	uc003hlb.2	+	62	10012	c.9572C>T	c.(9571-9573)tCc>tTc	p.S3191F	FRAS1_uc003hlc.1_Missense_Mutation_p.S193F	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3186					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAATCCCCCTCCCCAGGCTAC	0.542000														27			4		0	0	1	0	0
ORM1	5004	broad.mit.edu	37	9	117087420	117087420	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117087420C>T	uc004bik.4	+	4	639	c.528C>T	c.(526-528)acC>acT	p.T176T	ORM1_uc011lxo.2_Intron	NM_000607	NP_000598	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 1 (ORM1), mRNA.	176					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	TCGTGTACACCGATTGGAAAA	0.577000														52			21		0	0	1	0	0
KCNK15	60598	broad.mit.edu	37	20	43378995	43378995	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43378995C>T	uc002xmr.3	+	1	573	c.509C>T	c.(508-510)aCc>aTc	p.T170I		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	Homo sapiens potassium channel, subfamily K, member 15 (KCNK15), mRNA.	170						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				TGTGCCGCCACCCTGGCCCTC	0.687000														18			12		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48593948	48593948	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48593948G>A	uc010wmr.2	+	1	385	c.223G>A	c.(223-225)Gga>Aga	p.G75R	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	38					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GCGGGCAAAGGGACCTGAACA	0.388000														60			7		0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35284668	35284668	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:35284668G>A	uc011kas.2	-	4	1026	c.546_splice	c.e4-1	p.R182_splice		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	182						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TGCACATAGAGCCTAAGAAAA	0.353000														31			9		0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285574	44285574	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:44285574C>T	uc010qfe.1	-	0	292	c.262G>A	c.(262-264)Gag>Aag	p.E88K						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		GCATCCACCTCTGTAACACAA	0.478000														106			30		0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56057736	56057736	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56057736C>T	uc010rje.2	-	0	803	c.803G>A	c.(802-804)gGa>gAa	p.G268E		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTGATCCCTTCCCAAAGAATA	0.338000														95			36		0	0	1	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37962533	37962533	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37962533G>A	uc003asz.4	+	1	580	c.177G>A	c.(175-177)ggG>ggA	p.G59G		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	59					positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					ATGTCTTCGGGGACACGTCCT	0.652000														19			8		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83770408	83770408	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:83770408C>T	uc001paj.2	-	5	857	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	DLG2_uc001pai.2_Missense_Mutation_p.R134Q|DLG2_uc010rsy.1_Missense_Mutation_p.R152Q|DLG2_uc021qof.1_Missense_Mutation_p.R224Q|DLG2_uc010rsz.1_Missense_Mutation_p.R185Q|DLG2_uc010rta.1_Missense_Mutation_p.R185Q|DLG2_uc001pak.2_Missense_Mutation_p.R290Q|DLG2_uc010rtb.1_Missense_Mutation_p.R152Q|DLG2_uc001pal.1_Missense_Mutation_p.R185Q|DLG2_uc001pam.2_Missense_Mutation_p.R224Q	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	185						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CAAAATAGGTCGTCTTCTACG	0.458000														116			28		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48382030	48382030	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48382030C>T	uc001jez.3	-	3	3733	c.3619G>A	c.(3619-3621)Gaa>Aaa	p.E1207K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	1207	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCCACCCCTTCCCAGGAGCTG	0.642000														52			32		0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947100	57947100	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57947100C>T	uc021qjm.1	+	0	184	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	OR9Q1_uc001nmj.3_Missense_Mutation_p.L62F	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				AATGTATTTCCTTCTGAGTCA	0.468000														178			38		0	0	1	0	0
EBI3	10148	broad.mit.edu	37	19	4231306	4231306	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4231306C>T	uc002lzu.3	+	1	194	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_005755	NP_005746	Q14213	IL27B_HUMAN	Homo sapiens Epstein-Barr virus induced 3 (EBI3), mRNA.	62	Fibronectin type-III 1.				T-helper 1 type immune response|humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGTCCTTCATTGCCACGT	0.652000														20			12		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48465262	48465262	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48465262G>A	uc003csw.2	-	2	1029	c.759C>T	c.(757-759)ctC>ctT	p.L253L	PLXNB1_uc003csu.2_Silent_p.L253L|PLXNB1_uc003csx.2_Silent_p.L253L|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	253	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTGGTCCCGGAGACACACTC	0.622000														82			17		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998408	72998408	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:72998408C>T	uc002lly.3	+	1	1474	c.911C>T	c.(910-912)cCc>cTc	p.P304L	TSHZ1_uc021uln.1_Missense_Mutation_p.P304L	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	349						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AAACTGGTCCCCTCCACCAAA	0.592000														67			23		0	0	1	0	0
CCDC83	220047	broad.mit.edu	37	11	85606413	85606413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:85606413G>A	uc001pbg.1	+	5	1101	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	CCDC83_uc001pbh.1_Missense_Mutation_p.E197K|CCDC83_uc001pbj.1_Missense_Mutation_p.E98K|CCDC83_uc001pbi.1_Non-coding_Transcript	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA.	197										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCAAAAGAAGGAATGGGCCAC	0.284000														65			25		0	0	1	0	0
RABEPK	10244	broad.mit.edu	37	9	127990228	127990228	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:127990228C>T	uc004bpi.3	+	6	735	c.566C>T	c.(565-567)cCt>cTt	p.P189L	RABEPK_uc004bpj.3_Missense_Mutation_p.P138L|RABEPK_uc004bpk.3_Missense_Mutation_p.P189L	NM_001174152	NP_005824	Q7Z6M1	RABEK_HUMAN	Homo sapiens Rab9 effector protein with kelch motifs (RABEPK), transcript variant 2, mRNA.	189					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CTTGGAAATCCTCCATCTCCC	0.473000														56			26		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112525033	112525033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:112525033G>A	uc001ebu.1	-	1	796	c.316C>T	c.(316-318)Ccg>Tcg	p.P106S	KCND3_uc001ebv.1_Missense_Mutation_p.P106S	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	106						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCGTAGCGCGGGTAGTGCAGC	0.602000														63			31		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798354	185798354	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:185798354G>A	uc002uph.3	+	2	874	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	94						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAAACAAAGGGAATTTGCTCG	0.358000														66			24		0	0	1	0	0
RSL1D1	26156	broad.mit.edu	37	16	11941590	11941590	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:11941590G>A	uc002dbp.1	-	2	392	c.319C>T	c.(319-321)Cct>Tct	p.P107S	RSL1D1_uc010buv.1_Missense_Mutation_p.P107S|RSL1D1_uc010uyw.1_5'UTR|RSL1D1_uc010buw.2_Non-coding_Transcript	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	107					regulation of protein localization|translation	large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GTCTTTTCAGGAGTTGAATTG	0.348000														48			12		0	0	1	0	0
NR1H2	7376	broad.mit.edu	37	19	50881015	50881015	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50881015C>T	uc010enw.3	+	3	538	c.69C>T	c.(67-69)gcC>gcT	p.A23A	NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Silent_p.A23A	NM_007121	NP_009052	P55055	NR1H2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.	23					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.G22G(1)		endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		AGCCTGGCGCCCCTTCTTCTT	0.632000														58			24		0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93615517	93615517	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:93615517G>A	uc003drb.4	-	8	1209	c.868C>T	c.(868-870)Ccc>Tcc	p.P290S	PROS1_uc010hoo.3_Missense_Mutation_p.P159S|PROS1_uc003dqz.4_Missense_Mutation_p.P159S	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	290					leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	AGGTTCAAGGGAAGGCACACT	0.368000														166			36		0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24848321	24848321	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:24848321G>A	uc003neo.1	-	11	1185	c.1009C>T	c.(1009-1011)Cag>Tag	p.Q337*	FAM65B_uc011djs.1_Nonsense_Mutation_p.Q366*|FAM65B_uc011dju.2_Nonsense_Mutation_p.Q371*|FAM65B_uc003nep.3_Nonsense_Mutation_p.Q337*|FAM65B_uc011djt.2_Nonsense_Mutation_p.Q337*	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA.	337					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						ATTCTCCTCTGAAGGGCTGCT	0.517000														23			15		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73206137	73206137	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73206137G>A	uc001jrx.4	+	2	520	c.130G>A	c.(130-132)Gag>Aag	p.E44K	CDH23_uc001jrw.4_Missense_Mutation_p.E44K|CDH23_uc001jry.3_Missense_Mutation_p.E44K|CDH23_uc001jrz.3_Missense_Mutation_p.E44K|CDH23_uc021psl.1_Missense_Mutation_p.E44K|CDH23_uc001jrv.3_Intron|CDH23_uc009xql.3_Missense_Mutation_p.E44K	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	44	Cadherin 1.				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						GCTGATCAGCGAGGACACGCC	0.587000														46			23		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580008	140580008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140580008C>T	uc003liy.3	+	0	661	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	221	Cadherin 2.				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)			TGGGTCCCCTCCCAGGTCTGG	0.512000														100			37		0	0	1	0	0
FAM76A	199870	broad.mit.edu	37	1	28081763	28081763	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:28081763C>T	uc001bor.3	+	7	861	c.759C>T	c.(757-759)gcC>gcT	p.A253A	FAM76A_uc009vtb.3_Silent_p.A219A|FAM76A_uc001boq.3_Silent_p.A219A|FAM76A_uc001bos.3_Silent_p.A224A|FAM76A_uc001bot.3_Silent_p.A190A|FAM76A_uc010ofm.2_Silent_p.A139A	NM_001143912	NP_001137384	Q8TAV0	FA76A_HUMAN	Homo sapiens family with sequence similarity 76, member A (FAM76A), transcript variant 1, mRNA.	219										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCATTGCCCAACTGAAGG	0.403000														129			57		0	0	1	0	0
FAM114A1	92689	broad.mit.edu	37	4	38937369	38937369	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:38937369C>T	uc003gtn.3	+	12	1753	c.1494C>T	c.(1492-1494)gcC>gcT	p.A498A	FAM114A1_uc011byh.2_Silent_p.A291A|FAM114A1_uc010ifi.3_Silent_p.A156A	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	Homo sapiens family with sequence similarity 114, member A1 (FAM114A1), transcript variant 1, mRNA.	498						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						ATGAAGTGGCCTCTTTATCAA	0.323000														73			13		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48607739	48607739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48607739G>A	uc003ctz.2	-	96	7410	c.7409C>T	c.(7408-7410)cCc>cTc	p.P2470L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2470	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCGCCTCGGGGCCCAGGCAG	0.622000														72			23		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333646	70333646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70333646C>T	uc001oqc.3	-	20	2666	c.2554G>A	c.(2554-2556)Ggg>Agg	p.G852R	SHANK2_uc010rqn.2_Missense_Mutation_p.G328R|SHANK2_uc001opz.3_Missense_Mutation_p.G323R|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	539					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding	p.G919R(1)|p.G323R(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTAATCGTCCCGTAGACTCTT	0.607000														23			14		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188210	32188210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32188210G>A	uc003obb.3	-	5	1270	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Silent_p.F377F	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	377	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.F377L(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGAGGCAGGAGAAAGAGCCCA	0.607000														136			37		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20634834	20634834	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20634834G>A	uc002dhm.1	-	12	1776	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.R570W	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	570					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						TCCTTTTTCCGAAGTTCCTTC	0.488000														63			30		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139192923	139192924	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:139192923_139192924GG>AA	uc003leu.1	+	2	606_607	c.401_402GG>AA	c.(400-402)cgg>cAA	p.R134Q		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	134					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.V133L(1)		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)			CCAGATGTGCGGGATGGCTTCA	0.614000														99			25		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66873806	66873806	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:66873806C>T	uc002jhq.3	-	32	4393	c.4053G>A	c.(4051-4053)ggG>ggA	p.G1351G	ABCA8_uc002jhp.3_Silent_p.G1311G|ABCA8_uc010wqq.2_Silent_p.G1346G	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1311	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CTCCACCGCTCCCTTTCAGTA	0.557000														90			31		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71478775	71478775	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:71478775G>A	uc004agu.3	+	4	397	c.92G>A	c.(91-93)gGt>gAt	p.G31D	PIP5K1B_uc011lrq.2_Missense_Mutation_p.G31D|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	31	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GCTATTAAAGGTGCTATTCAG	0.423000														149			36		0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78147847	78147847	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:78147847G>A	uc001ozi.3	-	13	1679	c.1303C>T	c.(1303-1305)Cgt>Tgt	p.R435C	NARS2_uc010rsq.2_Missense_Mutation_p.R208C	NM_024678	NP_001230180	Q96I59	SYNM_HUMAN	Homo sapiens asparaginyl-tRNA synthetase 2, mitochondrial (putative) (NARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	435					asparaginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding	p.R435C(2)|p.R435H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CCAAATCGACGAAGGTCCAGA	0.358000														171			68		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7510075	7510075	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7510075G>A	uc010sge.2	-	18	4343	c.4317C>T	c.(4315-4317)acC>acT	p.T1439T	CD163L1_uc001qsy.3_Silent_p.T1429T	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1429						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.D1439N(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CATGGTTGGGGGTGTCATCTG	0.463000														50			4		0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157803081	157803081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157803081G>A	uc001frk.4	-	4	1083	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	314	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTGAGCAACGAACATTATCC	0.582000														78			38		0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43322721	43322721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:43322721G>A	uc002iin.3	+	21	3030	c.2830G>A	c.(2830-2832)Gag>Aag	p.E944K	FMNL1_uc002iiq.3_Missense_Mutation_p.E522K|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Missense_Mutation_p.E271K|LOC100133991_uc010dah.3_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	944	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GGTGCTCAAGGAGTTCCTGAG	0.632000														39			34		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50058997	50058997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:50058997G>A	uc003jon.4	+	7	621	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	PARP8_uc011cpz.2_Missense_Mutation_p.E39K|PARP8_uc003joo.3_Missense_Mutation_p.E147K|PARP8_uc003jop.3_Missense_Mutation_p.E147K	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	147						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CTATGATGGGGAACTGCACAA	0.418000														40			11		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7623214	7623214	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7623214G>T	uc002giu.1	+	0	176	c.162G>T	c.(160-162)gaG>gaT	p.E54D	DNAH2_uc002git.3_Missense_Mutation_p.E54D|DNAH2_uc010vuk.2_Missense_Mutation_p.E54D	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	54	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCAAGGAGGAGCCTGGTGGGT	0.647000														6			5		3.59834e-05	3.60392e-05	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110530483	110530483	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110530483G>A	uc003yne.3	+	72	11881	c.11777G>A	c.(11776-11778)gGa>gAa	p.G3926E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3926					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TTGGTTAAAGGAACTATACCT	0.373000										HNSCC(38;0.096)				55			30		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43872552	43872552	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:43872552C>T	uc001uza.4	-	11	1676	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q	ENOX1_uc001uzc.4_Missense_Mutation_p.R459Q|ENOX1_uc001uzb.4_Missense_Mutation_p.R459Q	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	459					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.F458F(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TTCTTCTGTTCGGAAAAGCTG	0.478000														110			42		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29886152	29886152	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:29886152G>A	uc003afo.3	+	3	2594	c.2523G>A	c.(2521-2523)aaG>aaA	p.K841K	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	847	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCCAAAGAAGGCAGAGGAAG	0.547000														28			4		0	0	1	0	0
ZNF100	163227	broad.mit.edu	37	19	21909553	21909553	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:21909553C>T	uc002nqi.3	-	4	1760	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	ZNF100_uc002nqh.3_Missense_Mutation_p.D457N	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	Homo sapiens zinc finger protein 100 (ZNF100), mRNA.	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TGGTTAAAGTCTTTACCACAT	0.373000														98			17		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64527218	64527218	+	Missense_Mutation	SNP	C	T	T	rs141560382	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:64527218C>T	uc003dmg.3	-	33	5308	c.5276G>A	c.(5275-5277)aGa>aAa	p.R1759K	ADAMTS9_uc011bfo.2_Missense_Mutation_p.R1731K|ADAMTS9_uc011bfp.1_Missense_Mutation_p.R670K	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1759	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AAGCTTTCCTCTAATCATCAG	0.398000														105			54		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10416277	10416277	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10416277G>A	uc002gmo.3	-	9	905	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	271	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GACTTCTCCAGAAGATCTGCA	0.383000														16			10		0	0	1	0	0
IFNA7	3444	broad.mit.edu	37	9	21201733	21201733	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21201733C>T	uc003zop.1	-	0	472	c.432G>A	c.(430-432)agG>agA	p.R144R	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	Homo sapiens interferon, alpha 7 (IFNA7), mRNA.	144					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGAAGTATTTCCTCACAGCCA	0.448000														337			47		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99658619	99658619	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:99658619C>T	uc010nmz.3	-	1	3867	c.2191G>A	c.(2191-2193)Gga>Aga	p.G731R	PCDH19_uc004efw.4_Intron|PCDH19_uc004efx.4_Intron	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	731					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTGTTTTGTCCTTTTATAAAA	0.428000														4			8		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83331569	83331569	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83331569C>T	uc010uoi.2	-	22	2887	c.2710G>A	c.(2710-2712)Gat>Aat	p.D904N	AP3B2_uc010uoh.2_Missense_Mutation_p.D885N|AP3B2_uc010uoj.2_Missense_Mutation_p.D853N|AP3B2_uc010bmp.3_5'Flank|AP3B2_uc010uog.2_Missense_Mutation_p.D521N	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	885					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			ATGTGGGGATCCCCGGAGAAA	0.622000														15			21		0	0	1	0	0
KCNE3	10008	broad.mit.edu	37	11	74168606	74168606	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:74168606C>T	uc021qng.1	-	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I	KCNE3_uc001ovc.3_Missense_Mutation_p.M1I|KCNE3_uc001ovd.2_Missense_Mutation_p.M1I	NM_005472	NP_005463	Q9Y6H6	KCNE3_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 3 (KCNE3), mRNA.	1						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					TGGTAGTCTCCATAGCAACAG	0.542000														64			19		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739233	38739233	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38739233C>T	uc003ciq.3	-	26	5478	c.5478G>A	c.(5476-5478)gaG>gaA	p.E1826E		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1826					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TAAACTTCTCCTCCATATTTG	0.428000														91			19		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53201524	53201524	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53201524C>T	uc001saz.3	-	6	1472	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	417						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						ACGCAGCATTCGTGCCAGCTC	0.597000														87			62		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322829	55322829	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55322829G>A	uc010rig.2	+	0	1047	c.1047G>A	c.(1045-1047)caG>caA	p.Q349Q		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AAGTAAAACAGGCCATGAGGA	0.328000										HNSCC(20;0.049)				76			33		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47663777	47663777	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47663777C>T	uc003gxm.3	-	11	1779	c.1686G>A	c.(1684-1686)gaG>gaA	p.E562E	CORIN_uc011bzf.2_Silent_p.E423E|CORIN_uc011bzg.2_Silent_p.E495E|CORIN_uc011bzh.1_Silent_p.E525E|CORIN_uc011bzi.1_Silent_p.E525E	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	562	FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CTGAATTTTCCTCTGGAAATT	0.413000														72			25		0	0	1	0	0
NFKBIB	4793	broad.mit.edu	37	19	39396066	39396066	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39396066C>T	uc002ojw.3	+	2	613	c.510C>T	c.(508-510)ccC>ccT	p.P170P	NFKBIB_uc010egk.2_Silent_p.P84P|NFKBIB_uc002ojx.3_Silent_p.P138P|NFKBIB_uc002ojy.3_Silent_p.P170P	NM_002503	NP_001230045	Q15653	IKBB_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta (NFKBIB), transcript variant 1, mRNA.	170					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACCGTACTCCCGACACCAACC	0.657000														64			28		0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57345840	57345840	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57345840G>A	uc001smi.4	-	3	1099	c.927C>T	c.(925-927)gtC>gtT	p.V309V	RDH16_uc009zpa.3_Silent_p.V164V	NM_003708	NP_003699	O75452	RDH16_HUMAN	Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA.	309					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						GGCTTGGAGAGACCCAGTACA	0.547000														44			14		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	628613	628613	+	Missense_Mutation	SNP	G	A	A	rs140444984		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:628613G>A	uc003gap.3	+	1	669	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	PDE6B_uc003gao.4_Missense_Mutation_p.E206K	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	206	GAF 1.				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						CAGCGAAGACGAAGATGTGAG	0.602000														45			19		0	0	1	0	0
BATF	10538	broad.mit.edu	37	14	76013010	76013010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:76013010C>T	uc001xrr.3	+	2	616	c.374C>T	c.(373-375)cCc>cTc	p.P125L		NM_006399	NP_006390	Q16520	BATF_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like (BATF), mRNA.	125						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		CGCTTCCAGCCCTGAGCTTCC	0.697000														13			5		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58134543	58134543	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58134543G>A	uc003djj.2	+	35	6220	c.6055G>A	c.(6055-6057)Gag>Aag	p.E2019K	FLNB_uc010hne.2_Missense_Mutation_p.E2050K|FLNB_uc003djk.2_Missense_Mutation_p.E2008K|FLNB_uc010hnf.2_Missense_Mutation_p.E1995K|FLNB_uc003djl.2_Missense_Mutation_p.E1839K|FLNB_uc003djm.2_Missense_Mutation_p.E1826K|FLNB_uc010hng.1_5'Flank	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2019	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCGGACTTTCGAGATGTCTGA	0.597000														59			23		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2886878	2886878	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2886878C>T	uc022aqr.1	-	50	8208	c.7818G>A	c.(7816-7818)ggG>ggA	p.G2606G	CSMD1_uc011kwj.2_Silent_p.G1936G|CSMD1_uc010lrg.3_Silent_p.G675G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2607	Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTTCCACGTCCCATTGGCCT	0.517000														24			5		0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5141002	5141002	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:5141002G>A	uc001ihr.3	+	3	561	c.378G>A	c.(376-378)gaG>gaA	p.E126E	AKR1C3_uc021pml.1_Silent_p.E126E|AKR1C3_uc010qap.2_Silent_p.E103E|AKR1C3_uc001ihu.3_Silent_p.E126E	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	126					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	AGCCAGGTGAGGAACTTTCAC	0.428000														44			15		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83935804	83935804	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83935804G>A	uc002bjt.1	-	2	307	c.219C>T	c.(217-219)atC>atT	p.I73I	BNC1_uc010uos.1_Silent_p.I61I	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	73					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACATGGGGGGGATCCTTAGCT	0.423000														43			13		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171535411	171535411	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171535411A>G	uc010pmg.2	+	20	6417	c.6151A>G	c.(6151-6153)Act>Gct	p.T2051A	PRRC2C_uc010pmh.2_Missense_Mutation_p.T1028A|PRRC2C_uc010pmi.2_5'UTR	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	2051							protein C-terminus binding										CGAAATTGGAACTGACACAAT	0.373000														22			6		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26839553	26839553	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:26839553G>A	uc001rhg.3	-	10	1426	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	337	MIR 4.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GAAGTTGGAGGGACTCCATCT	0.398000														177			35		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52548200	52548200	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52548200C>T	uc003dej.3	+	32	3591	c.3517C>T	c.(3517-3519)Ctg>Ttg	p.L1173L		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1173	FAS1 4.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAACCGCTCCCTGGAGGCCCA	0.642000														68			18		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47548875	47548875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47548875C>T	uc003gxk.1	+	9	1795	c.1631C>T	c.(1630-1632)cCc>cTc	p.P544L	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.P529L	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	544					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTCAGTAGCCCCATTGTAAGT	0.428000														31			7		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275758	71275758	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71275758G>A	uc003hfi.3	+	2	887	c.713G>A	c.(712-714)aGt>aAt	p.S238N		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	238					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GCCTTTAAAAGTTTTTGGCAA	0.368000														68			25		0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798854	212798854	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:212798854G>A	uc010pth.1	-	0		c.1260C>T			FAM71A_uc001hjk.3_Missense_Mutation_p.G212E			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AACCTTCAAGGAAAGGGGGAT	0.562000														96			38		0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125282013	125282013	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125282013C>T	uc011lyw.2	+	0	594	c.594C>T	c.(592-594)gtC>gtT	p.V198V		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L197L(1)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						ATGAGCTGGTCATTTTCACAG	0.473000														57			30		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739945	62739945	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62739945G>A	uc001dah.4	-	2	1208	c.831C>T	c.(829-831)ttC>ttT	p.F277F	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	277	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AGCCAGGGGTGAACAACACCT	0.542000														15			13		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474538	140474538	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140474538G>A	uc003lil.3	+	0	302	c.164G>A	c.(163-165)gGg>gAg	p.G55E	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	55	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAGACCTGGGGCTGGAGATA	0.512000														64			14		0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100157211	100157211	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:100157211G>A	uc001kpc.3	-	5	602	c.516C>T	c.(514-516)gcC>gcT	p.A172A	PYROXD2_uc001kpb.3_Non-coding_Transcript|PYROXD2_uc010qpe.2_Silent_p.A172A|PYROXD2_uc021pwu.1_5'Flank	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	172							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GAGGGTCAATGGCTAATGCCA	0.587000														55			21		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56387942	56387942	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56387942G>A	uc002ivx.4	-	19	4501	c.3630C>T	c.(3628-3630)gcC>gcT	p.A1210A	BZRAP1_uc010dcs.3_Silent_p.A1150A|BZRAP1_uc010wnt.2_Silent_p.A1210A	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1210						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCGCCTGCTGGGCCCGTGCTC	0.672000														55			21		0	0	1	0	0
IGF1	3479	broad.mit.edu	37	12	102811671	102811671	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:102811671G>A	uc001tjp.4	-	3	732	c.513C>T	c.(511-513)atC>atT	p.I171I	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.	171					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	p.I171M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						TCTTTCCTCTGATCTGCAGAC	0.463000														379			199		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169701980	169701980	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169701980G>A	uc001ggm.4	-	2	354	c.197C>T	c.(196-198)tCa>tTa	p.S66L	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	66	C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ATAACTTGGTGAATAGCTCAA	0.428000														79			23		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38802870	38802870	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38802870C>T	uc003ciq.3	-	5	696	c.696G>A	c.(694-696)ctG>ctA	p.L232L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	232					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAATGACCTTCAGGCCTGCGG	0.512000														37			11		0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57078909	57078909	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:57078909G>A	uc003xsq.4	-	2	1847	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	PLAG1_uc003xsr.4_Missense_Mutation_p.P466S|PLAG1_uc010lyi.3_Missense_Mutation_p.P466S|PLAG1_uc010lyj.3_Missense_Mutation_p.P384S|PLAG1_uc022aur.1_Missense_Mutation_p.P384S	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	466	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GTGTTTGCAGGATCCTGAAGA	0.498000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									165			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438833	179438833	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179438833C>T	uc021vsy.1	-	274	64547	c.64322G>A	c.(64321-64323)aGt>aAt	p.S21441N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S15136N|TTN_uc021vta.1_Missense_Mutation_p.S15069N|TTN_uc021vtb.1_Missense_Mutation_p.S14944N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22368	Fibronectin type-III 55.						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)			AGATGGTGGACTGATGGCACC	0.418000														61			31		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135428894	135428894	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:135428894C>T	uc004ezu.1	+	5	3320	c.3029C>T	c.(3028-3030)cCt>cTt	p.P1010L	GPR112_uc010nsb.1_Missense_Mutation_p.P805L|GPR112_uc010nsc.1_Missense_Mutation_p.P777L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1010					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1010S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCCCTGTGCCTGTTACTCAT	0.507000														52			76		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77764371	77764371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:77764371G>A	uc003ugx.3	-	16	3252	c.2998C>T	c.(2998-3000)Ctt>Ttt	p.L1000F	MAGI2_uc003ugy.3_Missense_Mutation_p.L986F|MAGI2_uc010ldx.1_Missense_Mutation_p.L593F	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	1000	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGACACTAAGACCTGCATCC	0.537000														66			24		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45711088	45711088	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45711088C>T	uc002zei.2	+	7	1117	c.990C>T	c.(988-990)atC>atT	p.I330I	AIRE_uc010gpq.2_Non-coding_Transcript|AIRE_uc002zej.2_Silent_p.I133I|AIRE_uc010gpr.2_Silent_p.I133I	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	330					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		TCCGGGAGATCCCCAGGTGAG	0.701000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					24			8		0	0	1	0	0
MORN5	254956	broad.mit.edu	37	9	124929162	124929162	+	Missense_Mutation	SNP	G	A	A	rs138145529		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:124929162G>A	uc011lyn.2	+	1	225	c.163G>A	c.(163-165)Gac>Aac	p.D55N	MORN5_uc011lyo.1_Missense_Mutation_p.D55N|MORN5_uc004blw.2_Missense_Mutation_p.D55N	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN	Homo sapiens MORN repeat containing 5 (MORN5), mRNA.	55										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						AAGCCAATACGACGCCATTTG	0.537000														34			5		0	0	1	0	0
LRRC39	127495	broad.mit.edu	37	1	100620727	100620727	+	Missense_Mutation	SNP	C	T	T	rs142389687	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:100620727C>T	uc001dsw.1	-	7	891	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	LRRC39_uc001dsx.1_Missense_Mutation_p.R231Q|LRRC39_uc001dsy.1_Missense_Mutation_p.R231Q|LRRC39_uc001dsz.1_Missense_Mutation_p.R231Q	NM_144620	NP_653221	Q96DD0	LRC39_HUMAN	Homo sapiens leucine rich repeat containing 39 (LRRC39), transcript variant 3, mRNA.	231										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TATTTCATTTCGTTGCAGCCA	0.308000														68			9		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28659862	28659862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28659862C>T	uc002kwl.4	-	10	2068	c.1614G>A	c.(1612-1614)gaG>gaA	p.E538E	DSC2_uc002kwk.4_Silent_p.E538E	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	538	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTTTGATGGTCTCTGCCTCTC	0.388000														229			19		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	654295	654295	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:654295G>A	uc003gap.3	+	11	1560	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	PDE6B_uc003gao.4_Missense_Mutation_p.E503K|PDE6B_uc011buy.2_Missense_Mutation_p.E224K	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	503					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						TGACATCTACGAATTCCACTT	0.572000														38			7		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588020	247588020	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247588020G>A	uc001icr.3	+	4	1413	c.1275G>A	c.(1273-1275)caG>caA	p.Q425Q	NLRP3_uc001ics.3_Silent_p.Q425Q|NLRP3_uc001icu.3_Silent_p.Q425Q|NLRP3_uc001icw.3_Silent_p.Q425Q|NLRP3_uc001icv.3_Silent_p.Q425Q|NLRP3_uc010pyw.2_Silent_p.Q423Q|NLRP3_uc001ict.1_Silent_p.Q423Q	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	425	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGAAACAGCAGATGGAGAGTG	0.587000														59			24		0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60711215	60711215	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60711215C>T	uc001nqn.2	-	2	1176	c.942G>A	c.(940-942)gtG>gtA	p.V314V	SLC15A3_uc001nqo.2_Silent_p.V314V	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	314					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GCAAGATCTTCACCAGCACCT	0.617000														14			5		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1457560	1457560	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1457560C>T	uc002qwr.3	+	5	663	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.P193S|TPO_uc002qwx.3_Missense_Mutation_p.P193S|TPO_uc002qwu.3_Missense_Mutation_p.P193S|TPO_uc010yio.2_Missense_Mutation_p.P193S|TPO_uc010yip.2_Missense_Mutation_p.P193S	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	193					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.P193P(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGGCTGGAACCCCGGCTTCTT	0.612000														68			15		0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133488412	133488412	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:133488412C>T	uc004bzr.1	+	4	452	c.344C>T	c.(343-345)tCa>tTa	p.S115L	FUBP3_uc010mzd.1_Missense_Mutation_p.S55L	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA.	115	KH 1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CAGATTGCTTCAGGTAAGGGC	0.373000														42			24		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666919	12666919	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:12666919C>T	uc002gno.2	+	13	3218	c.2919C>T	c.(2917-2919)ctC>ctT	p.L973L	MYOCD_uc002gnn.2_Silent_p.L925L|MYOCD_uc002gnq.2_Silent_p.L649L	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	925					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCACTGATCTCAATTTGAATT	0.522000														31			14		0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	404911	404911	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:404911C>T	uc001qif.1	-	25	4646	c.4283G>A	c.(4282-4284)cGa>cAa	p.R1428Q	KDM5A_uc021qsr.1_5'UTR	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1428					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						TTCCAAACTTCGGGGCACCAA	0.448000			T	NUP98	AML									119			58		0	0	1	0	0
AQP8	343	broad.mit.edu	37	16	25228723	25228723	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:25228723G>A	uc002doc.3	+	1	299	c.217G>A	c.(217-219)Ggg>Agg	p.G73R		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	73					cellular response to cAMP	integral to plasma membrane	water channel activity	p.H72H(1)		NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CCTGGCCCACGGGCTGGCTTT	0.607000														197			12		0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97339584	97339584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:97339584C>T	uc001tew.3	+	12	1935	c.1789C>T	c.(1789-1791)Cgt>Tgt	p.R597C	NEDD1_uc001teu.4_Missense_Mutation_p.R590C|NEDD1_uc001tev.4_Missense_Mutation_p.R590C|NEDD1_uc010svc.2_Missense_Mutation_p.R501C|NEDD1_uc001tex.3_Missense_Mutation_p.R501C	NM_001135175	NP_001128649	Q8NHV4	NEDD1_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA.	590					G2/M transition of mitotic cell cycle|cell division|mitosis	cytosol		p.R590C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CATTCAAATTCGTTTTATTCA	0.373000														54			33		0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60637186	60637186	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60637186C>T	uc001nqd.3	+	2	515	c.495C>T	c.(493-495)ctC>ctT	p.L165L	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	165					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TTTCCTTCCTCCCCACCTCTG	0.617000														33			16		0	0	1	0	0
GALNT4	8693	broad.mit.edu	37	12	89916702	89916703	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:89916702_89916703GG>AA	uc001tbd.3	-	0	1881_1882	c.1624_1625CC>TT	c.(1624-1626)cca>TTa	p.P542L	GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Missense_Mutation_p.P539L|GALNT4_uc010suo.2_Missense_Mutation_p.P370L	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA.	542	Ricin B-type lectin.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						TCCTGAGTGTGGGTGAAAAATA	0.401000														78			8		0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17462284	17462284	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:17462284G>A	uc002wpm.3	+	11	1840	c.1486G>A	c.(1486-1488)Ggg>Agg	p.G496R	PCSK2_uc002wpl.3_Missense_Mutation_p.G477R|PCSK2_uc010zrm.2_Missense_Mutation_p.G461R|PCSK2_uc002wpn.3_Missense_Mutation_p.G150R	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	496					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGCCTGTGAGGGGAAGGAAAA	0.522000														86			24		0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966524	2966524	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:2966524G>A	uc021tns.1	-	0	378	c.378C>T	c.(376-378)acC>acT	p.T126T		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						GGGGGCAGCAGGTGGCCACAT	0.582000														37			22		0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15706608	15706608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:15706608G>A	uc002ddr.3	-	16	3487	c.3280C>T	c.(3280-3282)Cct>Tct	p.P1094S	KIAA0430_uc002ddq.3_Missense_Mutation_p.P928S|KIAA0430_uc010uzv.2_Missense_Mutation_p.P1091S|KIAA0430_uc010uzw.2_Missense_Mutation_p.P1094S	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1093						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTACCTACAGGACTCTTCGAA	0.463000														156			50		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55224589	55224589	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55224589C>T	uc002qgs.1	+	0		c.4989C>T			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		CTTGGTCCACCATCCCCAGCC	0.612000														37			12		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108818274	108818274	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108818274C>T	uc003dxl.3	-	5	441	c.354G>A	c.(352-354)acG>acA	p.T118T	MORC1_uc011bhn.2_Silent_p.T118T	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	118					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.T118T(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTCCTTCTTCGTAAAAAGAA	0.343000														38			22		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68950492	68950492	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:68950492C>T	uc003xxv.1	+	6	831	c.804C>T	c.(802-804)ttC>ttT	p.F268F	PREX2_uc003xxu.1_Silent_p.F268F|PREX2_uc011lez.1_Silent_p.F203F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	268	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.F268F(3)|p.L267F(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTTTCTTTTCGATAATCTTT	0.413000														54			24		0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49411641	49411641	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:49411641G>A	uc002efr.3	+	2	194	c.151_splice	c.e2-1	p.K51_splice		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	51										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TGTCTTTTCAGAAGCAAAAGC	0.562000														11			6		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2855607	2855607	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2855607T>A	uc022aqr.1	-	53	8693	c.8303A>T	c.(8302-8304)tAt>tTt	p.Y2768F	CSMD1_uc011kwj.2_Missense_Mutation_p.Y2098F|CSMD1_uc010lrg.3_Missense_Mutation_p.Y779F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2769	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGCAGCAAATAGCCCGTGTT	0.567000														60			13		0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107230086	107230086	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:107230086G>A	uc010ilv.2	-	1	397	c.32C>T	c.(31-33)gCc>gTc	p.A11V	TBCK_uc003hye.2_Missense_Mutation_p.A11V|TBCK_uc003hyc.2_Missense_Mutation_p.A11V|TBCK_uc003hyd.2_5'UTR|TBCK_uc003hyf.2_Missense_Mutation_p.A11V	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	11	Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						GAAGGTAAAGGCTCCCATTTC	0.428000														38			20		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38531036	38531037	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38531036_38531037GG>AA	uc003auy.1	-	5	988_989	c.852_853CC>TT	c.(850-855)ccccgt>ccTTgt	p.R285C	PLA2G6_uc003auz.1_Missense_Mutation_p.R285C|PLA2G6_uc003ava.1_Missense_Mutation_p.R285C|PLA2G6_uc003avb.2_Missense_Mutation_p.R285C|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc011ano.1_Missense_Mutation_p.R250C	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	285					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GCTCCGTAACGGGGGTCTTTGC	0.658000														59			20		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72152307	72152307	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:72152307C>T	uc001xms.3	+	9	3694	c.3333C>T	c.(3331-3333)atC>atT	p.I1111I	SIPA1L1_uc001xmt.3_Silent_p.I1111I|SIPA1L1_uc001xmu.3_Silent_p.I1111I|SIPA1L1_uc001xmv.3_Silent_p.I1111I|SIPA1L1_uc010ttm.2_Silent_p.I586I	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1111					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCGCCAACATCCCTCGAAGCA	0.557000														47			18		0	0	1	0	0
NBPF7	343505	broad.mit.edu	37	1	120381888	120381888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:120381888C>T	uc010oxk.2	-	4	1378	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	253	NBPF 1.					cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		ACTTTGTCTTCCTCAGATGTG	0.443000														187			87		0	0	1	0	0
XCL2	6846	broad.mit.edu	37	1	168511246	168511246	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:168511246G>A	uc001gfn.4	-	1	194	c.161C>T	c.(160-162)tCc>tTc	p.S54F		NM_003175	NP_003166	Q9UBD3	XCL2_HUMAN	Homo sapiens chemokine (C motif) ligand 2 (XCL2), mRNA.	54					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					TGCTCTCAAGGAGCCTTCCGT	0.512000														49			25		0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49633259	49633259	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49633259C>T	uc002pmr.3	+	5	924	c.592C>T	c.(592-594)Ctt>Ttt	p.L198F	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc010emt.3_Missense_Mutation_p.L122F|PPFIA3_uc010yaj.1_Non-coding_Transcript|PPFIA3_uc002pms.3_Missense_Mutation_p.L66F	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	198						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GACTCTGAACCTTCGAGAACA	0.597000														55			6		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41758327	41758327	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41758327C>T	uc010ehj.3	+	14	1973	c.1783C>T	c.(1783-1785)Ccc>Tcc	p.P595S	AXL_uc010ehk.3_Missense_Mutation_p.P586S	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	595	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.C595C(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ATTTGACCATCCCAACGTCAT	0.567000														58			20		0	0	1	0	0
ABHD2	11057	broad.mit.edu	37	15	89738534	89738534	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89738534C>T	uc002bnj.2	+	14	2076	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	ABHD2_uc002bnk.2_Silent_p.F386F	NM_007011	NP_690888	P08910	ABHD2_HUMAN	Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA.	386						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					CTGTGCTGTTCCCCGAGCCCC	0.572000														80			22		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274047	10274047	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:10274047C>T	uc010uym.2	-	2	532	c.222G>A	c.(220-222)atG>atA	p.M74I	GRIN2A_uc002czo.4_Missense_Mutation_p.M74I|GRIN2A_uc002czr.4_Missense_Mutation_p.M74I|GRIN2A_uc010buk.3_Missense_Mutation_p.M74I	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	74					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGGTGCGGTTCATCAGCAGAG	0.662000														91			45		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170663	207170663	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:207170663G>A	uc002vbp.2	+	4	1661	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	471							nucleic acid binding|zinc ion binding	p.E471*(3)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GATTGTTAAAGAAATAAGTCT	0.333000														28			12		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96790332	96790332	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:96790332G>A	uc001yfi.3	-	15	2806	c.2441C>T	c.(2440-2442)tCg>tTg	p.S814L		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	814										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTCCTGGAACGATCCTAAAAA	0.398000														43			12		0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233410375	233410375	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233410375G>A	uc002vsx.1	+	11	1524	c.1503G>A	c.(1501-1503)ccG>ccA	p.P501P	CHRNG_uc010fye.1_Silent_p.P449P	NM_005199	NP_005190	P07510	ACHG_HUMAN	Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.	501					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		ACCGGGTGCCGGCCCTGCCAT	0.632000														75			8		0	0	1	0	0
FAM81A	145773	broad.mit.edu	37	15	59799517	59799517	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:59799517G>A	uc002agc.2	+	4	706	c.519G>A	c.(517-519)acG>acA	p.T173T		NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN	Homo sapiens family with sequence similarity 81, member A (FAM81A), mRNA.	173										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						TCTTGGAAACGAAAATCAAAG	0.433000														23			4		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104042572	104042572	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:104042572G>A	uc001tjw.3	+	9	1331	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	382	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAATGGCAAGGAAGGCTGACC	0.443000														83			38		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123256123	123256123	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:123256123C>T	uc021pzz.1	-	12	2433	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	FGFR2_uc021pzv.1_Missense_Mutation_p.E484K|FGFR2_uc021pzw.1_Missense_Mutation_p.E481K|FGFR2_uc021pzx.1_Missense_Mutation_p.E507K|FGFR2_uc021pzy.1_Missense_Mutation_p.E597K|FGFR2_uc010qtl.2_Missense_Mutation_p.E480K|FGFR2_uc010qtm.2_Missense_Mutation_p.E479K|FGFR2_uc021qaa.1_Missense_Mutation_p.E597K|FGFR2_uc021qab.1_Missense_Mutation_p.E508K|FGFR2_uc021qac.1_Missense_Mutation_p.E525K|FGFR2_uc001lfg.4_Missense_Mutation_p.E204K	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	596	Protein kinase.				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)	GTCATCTGCTCCTCAGGAACA	0.517000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					223			90		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808591	8808591	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8808591C>T	uc002mkl.2	-	0	582	c.461G>A	c.(460-462)aGc>aAc	p.S154N		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	154						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						GGTGGCCGGGCTGAAGGGTGG	0.672000														56			20		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35700677	35700677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35700677C>T	uc003jjo.3	+	15	2332	c.2221C>T	c.(2221-2223)Ctt>Ttt	p.L741F	SPEF2_uc003jjq.4_Missense_Mutation_p.L736F|SPEF2_uc003jjp.1_Missense_Mutation_p.L227F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	741					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAGAAGCTCTTACAGGCTG	0.398000														61			20		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671554	39671554	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:39671554C>T	uc021wjc.1	+	0	371	c.371C>T	c.(370-372)tCc>tTc	p.S124F	KCNJ15_uc002ywv.3_Missense_Mutation_p.S124F|KCNJ15_uc002yww.3_Missense_Mutation_p.S124F|KCNJ15_uc002ywx.3_Missense_Mutation_p.S124F	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	124					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TCCCTGGAATCCCAGACAACC	0.498000														101			31		0	0	1	0	0
TTTY11	83866	broad.mit.edu	37	Y	8657192	8657192	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrY:8657192C>T	uc004frk.2	-	2		c.273G>A								Homo sapiens testis-specific transcript, Y-linked 11 (non-protein coding) (TTTY11), non-coding RNA.																		TGCCAATGTTCTCATGACCAC	0.433000														13			10		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27197330	27197330	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:27197330G>A	uc011lno.2	+	10	1955	c.1513G>A	c.(1513-1515)Ggt>Agt	p.G505S	TEK_uc003zqi.4_Missense_Mutation_p.G548S|TEK_uc011lnp.2_Missense_Mutation_p.G401S|TEK_uc003zqj.1_Missense_Mutation_p.G482S|5S_rRNA_uc022bex.1_5'Flank	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	548	Fibronectin type-III 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCCTCCAAGAGGTCTAAATCT	0.398000														86			32		0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22676877	22676877	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:22676877G>A	uc001iri.3	+	5	971	c.804G>A	c.(802-804)aaG>aaA	p.K268K	SPAG6_uc010qct.2_Silent_p.K243K|SPAG6_uc009xkh.3_Silent_p.K246K|SPAG6_uc001irj.3_Silent_p.K268K|SPAG6_uc021poe.1_Intron	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	268					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AATACGTGAAGAAAAATGCTT	0.358000														40			19		0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111154975	111154975	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:111154975C>T	uc001plc.3	+	2	329	c.182C>T	c.(181-183)cCc>cTc	p.P61L		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	61										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CCCTACTTCCCCCAGGAGCCC	0.667000														86			44		0	0	1	0	0
FAM116A	201627	broad.mit.edu	37	3	57631445	57631445	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:57631445G>A	uc003dja.3	-	10	1051	c.980C>T	c.(979-981)cCt>cTt	p.P327L		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	327										breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		AGTGAAATAAGGTCGGAAATC	0.338000														96			8		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28828806	28828806	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:28828806G>A	uc002rmb.2	+	41	3092	c.3048G>A	c.(3046-3048)tgG>tgA	p.W1016*	PLB1_uc010ezj.2_Nonsense_Mutation_p.W1005*|PLB1_uc002rme.2_Intron	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1016	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAGCCCTTTGGACCAATATGG	0.522000														141			58		0	0	1	0	0
PROK1	84432	broad.mit.edu	37	1	110998924	110998924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110998924C>T	uc001dzs.3	+	2	320	c.269C>T	c.(268-270)cCg>cTg	p.P90L		NM_032414	NP_115790	P58294	PROK1_HUMAN	Homo sapiens prokineticin 1 (PROK1), mRNA.	90					angiogenesis|positive regulation of cell division	extracellular region	growth factor activity	p.F89F(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCCAGGTTCCCGGACGGCAGG	0.542000														69			30		0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155720365	155720365	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155720365C>T	uc003ioo.3	+	3	1224	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S	RBM46_uc011cim.1_Missense_Mutation_p.P351S|RBM46_uc003iop.1_Missense_Mutation_p.P351S	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	351							RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GCCAACTCTTCCTGCTCGTCT	0.423000														73			37		0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124239059	124239059	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124239059C>T	uc001ufr.3	+	17	2516	c.2268C>T	c.(2266-2268)ctC>ctT	p.L756L		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	756					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ACCTGAGGCTCTGGGCGCTTA	0.507000														59			13		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187209716	187209716	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187209716C>T	uc003iza.1	+	14	2159	c.1826C>T	c.(1825-1827)aCc>aTc	p.T609I	LOC285441_uc003izb.2_Non-coding_Transcript	NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	609	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	p.Y608H(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GGTGTTTACACCAACGTGGTC	0.567000														72			11		0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16735650	16735650	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16735650C>T	uc001ayn.3	-	6	1119	c.636G>A	c.(634-636)gaG>gaA	p.E212E	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Silent_p.E189E	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	212							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)		CCTCGGACTTCTCCCGGTTTT	0.612000														54			24		0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2025692	2025692	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2025692C>T	uc002cnu.1	+	9	1070	c.968C>T	c.(967-969)tCc>tTc	p.S323F	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Missense_Mutation_p.S209F|TBL3_uc010bsc.1_Missense_Mutation_p.S209F|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	323					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GAGGCTCGCTCCCTGCGGCTG	0.667000														44			11		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922608	37922608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:37922608G>A	uc002hsu.3	-	7	1027	c.965C>T	c.(964-966)cCc>cTc	p.P322L	IKZF3_uc002htd.3_Missense_Mutation_p.P288L|IKZF3_uc010cwd.3_Missense_Mutation_p.P179L|IKZF3_uc002hsv.3_Missense_Mutation_p.P249L|IKZF3_uc010cwe.3_Missense_Mutation_p.P188L|IKZF3_uc010cwf.3_Missense_Mutation_p.P140L|IKZF3_uc010cwg.3_Missense_Mutation_p.P101L|IKZF3_uc002hsw.3_Missense_Mutation_p.P283L|IKZF3_uc002hsx.3_Missense_Mutation_p.P266L|IKZF3_uc002hsy.3_Missense_Mutation_p.P283L|IKZF3_uc002hsz.3_Missense_Mutation_p.P227L|IKZF3_uc002hta.3_Missense_Mutation_p.P244L|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.P235L|IKZF3_uc002htc.3_Missense_Mutation_p.P75L|IKZF3_uc010wel.2_Missense_Mutation_p.P75L	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	322					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGGACCAAGGGGCGCAGGGC	0.557000														39			31		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62763577	62763577	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62763577G>A	uc009yon.3	-	5	930	c.809C>T	c.(808-810)tCg>tTg	p.S270L	SLC22A8_uc001nwn.1_Missense_Mutation_p.S61L|SLC22A8_uc009yom.3_Missense_Mutation_p.S147L|SLC22A8_uc001nwo.3_Missense_Mutation_p.S270L|SLC22A8_uc010rmm.2_Missense_Mutation_p.S179L|SLC22A8_uc001nwp.2_Missense_Mutation_p.S270L	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	270					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CAGGGCCTTCGAGGACTTTCC	0.577000														84			31		0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77569557	77569557	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:77569557C>T	uc003ugs.4	+	12	1804	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	PHTF2_uc003ugp.3_Missense_Mutation_p.R522C|PHTF2_uc010ldv.3_Missense_Mutation_p.R522C|PHTF2_uc003ugq.4_Missense_Mutation_p.R522C|PHTF2_uc003ugt.4_Missense_Mutation_p.R526C|PHTF2_uc003ugu.4_Missense_Mutation_p.R522C|PHTF2_uc022agp.1_Missense_Mutation_p.R560C|PHTF2_uc010ldw.2_Missense_Mutation_p.R342C	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TTTTGTGGTTCGCGTGTCTCT	0.338000														94			33		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154158558	154158558	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:154158558C>T	uc004fmt.3	-	13	3678	c.3507G>A	c.(3505-3507)gtG>gtA	p.V1169V		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1169	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCCTACTACCACTTTGTTTT	0.403000														31			54		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128444	6128444	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6128444G>A	uc001qnn.1	-	27	4390	c.4140C>T	c.(4138-4140)atC>atT	p.I1380I	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1380	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	p.R1379C(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGAGCAGGGTGATGCGGGAGG	0.582000														62			15		0	0	1	0	0
RAMP1	10267	broad.mit.edu	37	2	238820283	238820283	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:238820283G>A	uc002vxj.3	+	2	437	c.305G>A	c.(304-306)aGg>aAg	p.R102K		NM_005855	NP_005846	O60894	RAMP1_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 1 (RAMP1), mRNA.	102					intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	CGCTACTTCAGGAGCTGCCCC	0.657000														40			18		0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75761170	75761170	+	Silent	SNP	G	A	A	rs137863856	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:75761170G>A	uc002bal.3	-	12	2230	c.1722C>T	c.(1720-1722)ttC>ttT	p.F574F		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	574	Tyrosine-protein phosphatase.					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						CCTTCTCTGCGAACTCCAGGA	0.542000														148			35		0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120101930	120101930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:120101930G>A	uc003yoo.3	+	1	257	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	54	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			AGATGATGGTGAAAAAGGAGA	0.413000														37			15		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69027999	69027999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:69027999C>T	uc003xxv.1	+	25	3185	c.3158C>T	c.(3157-3159)tCa>tTa	p.S1053L		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1053					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.S1052F(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTTCTGTCTTCAATAACATAT	0.338000														43			7		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21730468	21730468	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:21730468G>A	uc003svc.3	+	35	6062	c.6031G>A	c.(6031-6033)Gaa>Aaa	p.E2011K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2011	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGTCGAACCGAATTACCGGA	0.413000									Kartagener syndrome					195			31		0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93015448	93015449	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:93015448_93015449GG>AA	uc002brc.1	+	0	542_543	c.70_71GG>AA	c.(70-72)ggg>AAg	p.G24K	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	24								p.G24G(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			GAGTGGGGAAGGGGTCCCACCT	0.535000														97			20		0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40944253	40944253	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40944253C>T	uc010bbs.1	+	21	6604	c.6443C>T	c.(6442-6444)aCc>aTc	p.T2148I	CASC5_uc010bbt.1_Missense_Mutation_p.T2122I	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	2148	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GCTGTATTCACCTTTGTTTAT	0.358000														61			12		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70526179	70526179	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:70526179G>A	uc002lkw.3	-	3	635	c.351C>T	c.(349-351)ttC>ttT	p.F117F	NETO1_uc002lky.2_Silent_p.F117F|NETO1_uc002lkz.3_Silent_p.F116F	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	117	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GTTGTCCACAGAAACGTCCAA	0.378000														73			28		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247608109	247608109	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247608109C>T	uc001icr.3	+	9	3135	c.2997C>T	c.(2995-2997)ctC>ctT	p.L999L	NLRP3_uc001ics.3_Silent_p.L942L|NLRP3_uc001icu.3_Silent_p.L999L|NLRP3_uc001icw.3_Silent_p.L942L|NLRP3_uc001icv.3_Silent_p.L885L|NLRP3_uc010pyw.2_Silent_p.L977L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	999					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGAGCTGCCTCCTGCAGAACC	0.567000														47			5		0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46609673	46609673	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:46609673C>T	uc002ruv.3	+	14	2907	c.2397C>T	c.(2395-2397)ttC>ttT	p.F799F	EPAS1_uc002ruw.3_Silent_p.F265F	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	799					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGAGCAGGTTCCCCCCACAGT	0.637000														84			24		0	0	1	0	0
CTSC	1075	broad.mit.edu	37	11	88027614	88027614	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:88027614C>T	uc001pck.4	-	6	1053	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	CTSC_uc001pcl.4_Missense_Mutation_p.E170K	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	318					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAAGCTTCTTCCACCAGCCCA	0.463000														77			16		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140356050	140356050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140356050G>A	uc010ncj.1	-	32	4116	c.3779C>T	c.(3778-3780)tCc>tTc	p.S1260F	PNPLA7_uc004cnd.1_Missense_Mutation_p.S482F|PNPLA7_uc004cne.1_Missense_Mutation_p.S501F|PNPLA7_uc011mfa.1_Missense_Mutation_p.S643F|PNPLA7_uc004cnf.2_Missense_Mutation_p.S1235F|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1235					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTCCGTGAAGGAGGCGTTGGG	0.652000														33			8		0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	18004539	18004539	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18004539C>T	uc002nhr.4	+	14	2132	c.1785C>T	c.(1783-1785)ccC>ccT	p.P595P		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	595					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AAGAACTCCCCACTGGAAACA	0.582000														32			10		0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176304662	176304662	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176304662G>A	uc003mey.3	+	9	1785	c.1593G>A	c.(1591-1593)tgG>tgA	p.W531*		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	531	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGACAGCTGGAGCCTGCGCC	0.647000														37			11		0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	514923	514923	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:514923C>T	uc003gak.4	+	6	1329	c.1193C>T	c.(1192-1194)tCa>tTa	p.S398L	PIGG_uc003gaj.4_Missense_Mutation_p.S398L|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Missense_Mutation_p.S265L|PIGG_uc003gal.4_Missense_Mutation_p.S309L|PIGG_uc011buw.2_Missense_Mutation_p.S276L|PIGG_uc003gam.3_Intron|PIGG_uc003gan.3_Missense_Mutation_p.S309L	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	398					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	p.S398S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GAAAAGCATTCAGAAGTCCTA	0.473000														87			33		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640889	3640889	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3640889G>A	uc002cvp.2	-	11	3377	c.2750C>T	c.(2749-2751)gCc>gTc	p.A917V		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	917	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCAGGTGGTGGCGGCCTCATC	0.652000								Direct reversal of damage						117			29		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735313	54735313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:54735313G>A	uc003pck.3	+	1	385	c.269G>A	c.(268-270)gGg>gAg	p.G90E		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	90										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTATCTTCAGGGACCTACTGG	0.443000														147			30		0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028226	102028226	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:102028226G>A	uc021sdx.1	+	0	539	c.393G>A	c.(391-393)gaG>gaA	p.E131E	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	105					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				AGGCGCACGAGGGCGGTCCGG	0.647000														58			38		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139876656	139876656	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:139876656C>T	uc003lfs.2	+	14	2951	c.2797C>T	c.(2797-2799)Cca>Tca	p.P933S	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.P952S|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.P933S|ANKHD1-EIF4EBP3_uc003lft.1_Intron|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.P413S|ANKHD1-EIF4EBP3_uc003lfv.1_Intron	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	933						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTATCATCTCCACAGTGTAA	0.398000														170			60		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3511920	3511920	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3511920C>T	uc001akl.3	-	2	585	c.358G>A	c.(358-360)Gag>Aag	p.E120K		NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	120	EMI.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CAGCCCTCCTCGTCGGGCTGC	0.662000														57			21		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777046	18777046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:18777046C>T	uc003zne.4	+	18	2971	c.2819C>T	c.(2818-2820)tCg>tTg	p.S940L		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	940	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTCAAGCCCTCGGATGCAGGC	0.652000														82			12		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204587210	204587210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204587210G>A	uc021phy.1	-	0	1911	c.1911C>T	c.(1909-1911)ctC>ctT	p.L637L	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Silent_p.L637L|LRRN2_uc001hbf.1_Silent_p.L637L|LRRN2_uc009xbf.1_Silent_p.L637L|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	637					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GAAGGACAGCGAGAGCCAGGA	0.647000														23			12		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42341730	42341730	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42341730C>T	uc002xlb.1	+	11	2023	c.1808C>T	c.(1807-1809)cCc>cTc	p.P603L	MYBL2_uc010zwj.1_Missense_Mutation_p.P579L	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	603						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCCACACTGCCCAAGTCTCTA	0.527000														16			11		0	0	1	0	0
GATA5	140628	broad.mit.edu	37	20	61040427	61040427	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61040427G>A	uc002ycx.1	-	5	1069	c.1007C>T	c.(1006-1008)cCa>cTa	p.P336L		NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	Homo sapiens GATA binding protein 5 (GATA5), mRNA.	336					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			AGGGCACACTGGGGACGCCAG	0.672000														19			7		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78647111	78647111	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:78647111G>A	uc001jxn.3	-	27	3801	c.3624C>T	c.(3622-3624)tcC>tcT	p.S1208S	KCNMA1_uc021ptu.1_Silent_p.S1100S|KCNMA1_uc001jxj.2_Silent_p.S1154S|KCNMA1_uc001jxk.1_Silent_p.S826S|KCNMA1_uc009xrt.1_Silent_p.S999S|KCNMA1_uc001jxl.1_Silent_p.S833S|KCNMA1_uc001jxo.3_Silent_p.S1191S|KCNMA1_uc001jxm.3_Silent_p.S1150S|KCNMA1_uc001jxq.3_Silent_p.S1180S|BC030624_uc001jxp.3_5'Flank	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1208					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGGATGGGATGGAGTGAACAG	0.572000														131			25		0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228247937	228247937	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228247937C>G	uc001hrp.2	+	4	1197	c.1090C>G	c.(1090-1092)Cag>Gag	p.Q364E	WNT3A_uc001hrq.2_3'UTR	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	0					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TTCAGCCCACCAGCCACCTCA	0.637000														77			32		0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54777751	54777751	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:54777751G>A	uc004dtj.2	-	11	3445	c.3415C>T	c.(3415-3417)Cgc>Tgc	p.R1139C		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	1139					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AAGTAGGTGCGAGTCTGGTCC	0.592000														25			20		0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46986807	46986807	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:46986807C>T	uc021vgx.1	+	0	1138	c.1138C>T	c.(1138-1140)Ccc>Tcc	p.P380S	SOCS5_uc002rvf.3_Missense_Mutation_p.P380S|SOCS5_uc002rvg.3_Missense_Mutation_p.P380S	NM_144949	NP_659198	O75159	SOCS5_HUMAN	Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA.	380					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of T-helper 2 cell differentiation|negative regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TACAGGGAATCCCTGTTACTG	0.498000														50			17		0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46306935	46306935	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46306935G>A	uc003cpl.2	+	2	1416	c.385G>A	c.(385-387)Ggg>Agg	p.G129R	CCR3_uc003cpg.2_Missense_Mutation_p.G96R|CCR3_uc003cpk.2_Missense_Mutation_p.G117R|CCR3_uc003cpi.2_Missense_Mutation_p.G96R|CCR3_uc010hjb.2_Missense_Mutation_p.G114R|CCR3_uc003cpj.2_Missense_Mutation_p.G96R|CCR3_uc021wwz.1_Missense_Mutation_p.G96R	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	96					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CTATGTCAGGGGGCATAACTG	0.493000														217			87		0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56233261	56233261	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56233261G>A	uc010wno.2	+	0	747	c.747G>A	c.(745-747)atG>atA	p.M249I	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M249I(2)		kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGGTGTCCATGATCTTCATTC	0.522000														78			11		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44934018	44934018	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44934018C>T	uc002oze.1	-	5	1372	c.938G>A	c.(937-939)aGa>aAa	p.R313K	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.R307K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGTGGGAACTCTTTGATGTCT	0.507000														38			7		0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138633391	138633391	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:138633391G>A	uc004fas.1	+	5	720	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	F9_uc004fat.1_Missense_Mutation_p.E193K	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	231	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGTTGGTGGAGAAGATGCCAA	0.453000														23			41		0	0	1	0	0
LAMP1	3916	broad.mit.edu	37	13	113973849	113973850	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:113973849_113973850CC>TT	uc001vtm.1	+	4	909_910	c.628_629CC>TT	c.(628-630)ccc>TTc	p.P210F	LAMP1_uc010tka.1_Missense_Mutation_p.P157F	NM_005561	NP_005552	P11279	LAMP1_HUMAN	Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA.	210	Hinge.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CAGCCCCTCGCCCTCACCCGTG	0.653000														52			16		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641153	57641153	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57641153G>A	uc002qny.3	+	3	1466	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	USP29_uc021vci.1_Silent_p.Q370Q	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	370					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			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)		GCAACATGCAGAATGATGCTC	0.358000														85			35		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94145923	94145923	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:94145923G>A	uc011cdt.2	+	6	1380	c.1122G>A	c.(1120-1122)aaG>aaA	p.K374K	GRID2_uc011cdu.2_Silent_p.K279K|GRID2_uc010ikz.1_Silent_p.K55K	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	374					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGACCATCAAGAAGGTAACTT	0.383000														41			16		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169756	57169756	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57169756G>A	uc001cyk.4	+	6	972	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	301					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	p.E301D(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TGAAAAATTTGAATGTACAGA	0.373000														232			15		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42028729	42028729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42028729C>T	uc010ucy.2	+	12	4448	c.4267C>T	c.(4267-4269)Cct>Tct	p.P1423S	MGA_uc010ucz.2_Missense_Mutation_p.P1423S|MGA_uc010uda.1_Intron	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1423						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCCATTGTCCCCTGGGAAAAT	0.463000														33			16		0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14568910	14568910	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:14568910C>T	uc002myp.3	+	7	1401	c.1233C>T	c.(1231-1233)ggC>ggT	p.G411G	PKN1_uc002myq.3_Silent_p.G417G	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	411	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						AGCCATGTGGCCCCAATGCCT	0.577000														200			43		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34026758	34026758	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:34026758G>A	uc003oir.4	-	3	1383	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	GRM4_uc011dsn.2_Silent_p.S340S|GRM4_uc010jvh.3_Silent_p.S340S|GRM4_uc010jvi.3_Silent_p.S32S|GRM4_uc003oio.3_Silent_p.S32S|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.S200S|GRM4_uc003oiq.3_Silent_p.S207S|GRM4_uc011dsm.2_Silent_p.S171S	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	340					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TACCTCGTACGGACATCCTCT	0.632000														24			7		0	0	1	0	0
C20orf118	140711	broad.mit.edu	37	20	35506332	35506332	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:35506332G>A	uc002xgg.1	+	1	72	c.64G>A	c.(64-66)Gag>Aag	p.E22K	C20orf118_uc021wcz.1_Missense_Mutation_p.E22K	NM_080628	NP_542195	A0PJX2	CT118_HUMAN	Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA.	22										kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	9		Myeloproliferative disorder(115;0.00874)				CCTGTCTggggaggagggtaa	0.622000														76			10		0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188228210	188228210	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:188228210T>A	uc010frt.3	-	7	903	c.520A>T	c.(520-522)Att>Ttt	p.I174F	CALCRL_uc002upv.4_Missense_Mutation_p.I174F	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	174						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGTAAGGTAATCCTTTGGCAA	0.353000														81			20		0	0	1	0	0
SMAD7	4092	broad.mit.edu	37	18	46447991	46447991	+	Silent	SNP	G	A	A	rs143946125	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:46447991G>A	uc002ldg.3	-	3	1319	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S	SMAD7_uc002ldf.3_Silent_p.S156S|SMAD7_uc010xde.2_Silent_p.S129S|SMAD7_uc021ujr.1_Silent_p.S343S	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	344	MH2.				BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					CCAGTGTGGCGGACTTGATGA	0.582000														29			13		0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102904439	102904439	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:102904439C>T	uc001ylw.2	+	9	2701	c.2475C>T	c.(2473-2475)tgC>tgT	p.C825C	TECPR2_uc010awl.3_Silent_p.C825C|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	825							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ATATCTGGTGCCTGGACTACA	0.597000											OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		146			51		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8181592	8181592	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8181592G>A	uc002mjf.3	-	27	3695	c.3678C>T	c.(3676-3678)ggC>ggT	p.G1226G		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1226	EGF-like 17.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGCCATGAAGCCATCATAGC	0.627000														109			14		0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28136867	28136867	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:28136867G>A	uc001url.4	-	4	1216	c.907C>T	c.(907-909)Ctt>Ttt	p.L303F	LNX2_uc001urm.1_Missense_Mutation_p.L303F	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	303	PDZ 1.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GGCTGGGAAAGGACAGCTCGG	0.453000														127			9		0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171118	214171118	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:214171118G>A	uc001hkh.3	+	1	1512	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	PROX1_uc001hkg.1_Missense_Mutation_p.D414N	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	414					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GTGCTTTGGCGACGTCATCAT	0.562000														112			22		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70956739	70956739	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70956739G>A	uc001swb.4	-	13	3429	c.3399C>T	c.(3397-3399)gaC>gaT	p.D1133D	PTPRB_uc010sto.2_Silent_p.D1043D|PTPRB_uc010stp.2_Silent_p.D1043D|PTPRB_uc001swc.4_Silent_p.D1351D|PTPRB_uc001swa.4_Silent_p.D1263D|PTPRB_uc001swd.4_Silent_p.D1350D|PTPRB_uc009zrr.2_Silent_p.D1230D	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1133	Fibronectin type-III 13.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGACTAGTGGGTCAACTTGAG	0.498000														75			17		0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46942907	46942907	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:46942907G>A	uc010acl.3	-	3	1184	c.579C>T	c.(577-579)ttC>ttT	p.F193F	KIAA0226L_uc001vbf.4_Silent_p.F126F|KIAA0226L_uc010tfz.2_Silent_p.F36F|KIAA0226L_uc010acn.3_5'UTR|KIAA0226L_uc010acm.3_Silent_p.F58F|KIAA0226L_uc001vbe.4_Silent_p.F193F|KIAA0226L_uc001vbh.4_Silent_p.F193F|KIAA0226L_uc001vbi.4_Silent_p.F36F|KIAA0226L_uc010aco.1_Silent_p.F193F	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	193										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CCTCTGGTGAGAAGGAATTCG	0.358000														119			42		0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121187759	121187759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:121187759C>T	uc003kss.3	+	0	110	c.101C>T	c.(100-102)cCg>cTg	p.P34L		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	34					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CGTTGGGCCCCGGGGCGCCCC	0.766000														16			11		0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35339031	35339031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:35339031C>T	uc001mwd.3	-	1	642	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	SLC1A2_uc021qfx.1_Missense_Mutation_p.R8Q|SLC1A2_uc001mwe.3_Missense_Mutation_p.R8Q|SLC1A2_uc010rev.1_Missense_Mutation_p.R17Q|SLC1A2_uc021qfy.1_Missense_Mutation_p.R62Q	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	17					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GTCGTGCATTCGCACTTCCAC	0.567000														117			88		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52549277	52549277	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:52549277G>A	uc001vfw.2	-	1	236	c.79C>T	c.(79-81)Cgt>Tgt	p.R27C	ATP7B_uc001vfy.2_Missense_Mutation_p.R27C|ATP7B_uc010adv.2_Missense_Mutation_p.R27C|ATP7B_uc001vfx.2_Missense_Mutation_p.R27C|ATP7B_uc010tgt.1_Missense_Mutation_p.R27C|ATP7B_uc010tgu.1_Missense_Mutation_p.R27C|ATP7B_uc010tgv.1_Missense_Mutation_p.R27C|ATP7B_uc010tgw.1_5'UTR	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	27					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)		TCCCAGGCACGGGTAGGCAAA	0.428000									Wilson disease					45			16		0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112031331	112031331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:112031331C>T	uc001ebf.3	-	2	1540	c.773G>A	c.(772-774)gGa>gAa	p.G258E	ADORA3_uc001ebg.4_Missense_Mutation_p.G177E	NM_020683	NP_065734	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 1, mRNA.	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GGCCAGGGTTCCTTTGTCGTC	0.537000														40			8		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96745889	96745889	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96745889G>A	uc001kka.4	+	7	1274	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S	CYP2C9_uc009xut.3_Missense_Mutation_p.G415S	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	417			G -> D.		exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GGATGAAGGTGGCAATTTTAA	0.363000														109			54		0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23731413	23731413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:23731413G>A	uc002wtp.3	-	0	162	c.91C>T	c.(91-93)Ccg>Tcg	p.P31S		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	31			P -> L (in dbSNP:rs2070856).			extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					ATGCCACCCGGGATTATCCTA	0.562000														51			5		0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18762339	18762339	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:18762339C>T	uc001mpd.3	-	8	1157	c.726_splice	c.e8-1	p.R242_splice	PTPN5_uc001mpb.3_Splice_Site_p.R210_splice|PTPN5_uc001mpc.3_Splice_Site_p.R242_splice|PTPN5_uc010rdj.2_Splice_Site_p.R186_splice|PTPN5_uc001mpf.3_Splice_Site_p.R218_splice|PTPN5_uc001mpe.3_Splice_Site_p.R210_splice|PTPN5_uc010rdk.2_Splice_Site_p.R187_splice	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	242						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						TGGAACCCCTCCTGGAAGGAC	0.627000														30			9		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60886272	60886272	+	Missense_Mutation	SNP	C	T	T	rs112963711	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:60886272C>T	uc002ycq.3	-	72	10101	c.10034G>A	c.(10033-10035)gGt>gAt	p.G3345D	LAMA5_uc021wfw.1_Missense_Mutation_p.G3345D	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3345	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACAGGGAACCCCCAAACTG	0.701000														52			14		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74468459	74468459	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74468459C>A	uc002axg.1	+	1	1542	c.1260C>A	c.(1258-1260)ctC>ctA	p.L420L	ISLR_uc002axh.1_Silent_p.L420L|ISLR_uc021sqf.1_Silent_p.L420L	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	420					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						AAAGCCTCCTCCTCTTCTTCT	0.637000														31			34		9.17885e-22	9.23022e-22	1	1	0
PRIC285	85441	broad.mit.edu	37	20	62192276	62192276	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62192276G>A	uc002yfm.2	-	15	8045	c.7153C>T	c.(7153-7155)Ctt>Ttt	p.L2385F	PRIC285_uc002yfl.1_Missense_Mutation_p.L1816F	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2385					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TCTCCGAGAAGAACCACCTGG	0.642000														99			17		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25266961	25266961	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25266961C>T	uc010aaa.3	+	9	1655	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	ATP12A_uc001upp.3_Missense_Mutation_p.S435F	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	435					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ACTTGGGCCTCCTTATCCAAG	0.493000														267			63		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9009273	9009273	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9009273G>A	uc002mkp.3	-	39	39404	c.39200C>T	c.(39199-39201)tCt>tTt	p.S13067F	MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13069	SEA 7.				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						TCACCTGAGAGAGATCAGTCT	0.507000														72			24		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832220	61832220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61832220C>T	uc001jky.3	-	36	8757	c.8419G>A	c.(8419-8421)Gat>Aat	p.D2807N	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.	2807					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						TTCACATTATCAGAGCCAGAA	0.373000														78			36		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140718804	140718804	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140718804G>A	uc003ljk.2	+	0	451	c.266G>A	c.(265-267)aGg>aAg	p.R89K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.R89K	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	89	Cadherin 1.				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)			ACTGCGAACAGGATAGACCGG	0.547000														103			20		0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49667581	49667581	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:49667581C>T	uc003ozn.2	-	5	443	c.207G>A	c.(205-207)acG>acA	p.T69T	CRISP2_uc003ozr.2_Silent_p.T69T|CRISP2_uc003ozo.2_Silent_p.T69T|CRISP2_uc003ozm.2_Silent_p.T69T|CRISP2_uc003ozp.2_Silent_p.T69T|CRISP2_uc003ozq.2_Silent_p.T69T|CRISP2_uc003ozl.2_Silent_p.T69T	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	69						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTTGGGCATTCGTTGTTACCT	0.343000														41			26		0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87457444	87457444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:87457444G>A	uc002fjz.1	-	3	428	c.401C>T	c.(400-402)tCc>tTc	p.S134F	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_5'UTR	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	134					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CACTTCAGAGGAAGATTTGGT	0.368000														61			31		0	0	1	0	0
RSAD1	55316	broad.mit.edu	37	17	48559733	48559733	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48559733C>T	uc002iqw.1	+	3	812	c.756C>T	c.(754-756)ctC>ctT	p.L252L	RSAD1_uc010wmq.1_Non-coding_Transcript	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 1 (RSAD1), mRNA.	252					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			ACCCGGAGCTCGCAGCTGAGA	0.647000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		79			19		0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96178115	96178115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:96178115G>A	uc001yfc.4	-	2	452	c.322C>T	c.(322-324)Ctc>Ttc	p.L108F	TCL1A_uc001yfb.4_Missense_Mutation_p.L108F	NM_001098725	NP_068801	P56279	TCL1A_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA.	108					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		AGCAGCTCGAGAAGCATGTCC	0.562000			T	TRA@	T-CLL									19			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209452	140209452	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140209452G>A	uc003lho.2	+	0	1803	c.1776G>A	c.(1774-1776)gcG>gcA	p.A592A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.A592A	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	605					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)			AAGTGGTGGCGAAGGTGCGCG	0.687000														97			27		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53207919	53207919	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53207919C>T	uc001saz.3	-	0	146	c.146G>A	c.(145-147)cGa>cAa	p.R49Q		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	0						keratin filament	structural molecule activity	p.R49P(2)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCTCAGCCTTCGTCTCTTATA	0.567000														44			6		0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796745	62796745	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62796745G>A	uc002jew.4	-	5	1206	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	PLEKHM1P_uc002jev.3_Non-coding_Transcript|PLEKHM1P_uc010wqe.1_Silent_p.L99L					Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene (PLEKHM1P), non-coding RNA.																		ACCTTCTGCAGGGCCTCCCGC	0.667000														43			10		0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16059904	16059904	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16059904C>T	uc010xov.2	+	0	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CCATCTTGTTCCTGCTGTACC	0.483000														245			96		0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150647458	150647458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150647458C>T	uc003wic.3	-	8	2597	c.2196G>A	c.(2194-2196)ctG>ctA	p.L732L	KCNH2_uc003wib.3_Silent_p.L392L|KCNH2_uc011kux.2_Silent_p.L636L|KCNH2_uc003wid.3_Silent_p.L392L|KCNH2_uc003wie.3_Silent_p.L732L	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	732					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTGAGCGGTTCAGGTGCAGGC	0.657000														55			28		0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54159206	54159206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:54159206G>A	uc002rxp.2	-	9	1138	c.1082C>T	c.(1081-1083)cCa>cTa	p.P361L	PSME4_uc010yop.1_Missense_Mutation_p.P247L|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Missense_Mutation_p.P346L	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	361					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AACACTGTTTGGCAACCGCTG	0.423000														173			16		0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108919967	108919967	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:108919967A>G	uc001tmz.1	-	15	2514	c.2279T>C	c.(2278-2280)cTt>cCt	p.L760P	SART3_uc001tmy.1_Missense_Mutation_p.L286P|SART3_uc009zux.1_Missense_Mutation_p.L372P|SART3_uc010swx.1_Missense_Mutation_p.L724P|SART3_uc010swy.1_Missense_Mutation_p.L646P|SART3_uc010swz.1_3'UTR	NM_014706	NP_055521	Q15020	SART3_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells 3 (SART3), mRNA.	760	RRM 1.				RNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CAGTGCCTGAAGGGCTGATTT	0.507000									Porokeratosis					139			16		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57734081	57734081	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:57734081C>T	uc002emi.3	+	3	492	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	CCDC135_uc002emj.3_Missense_Mutation_p.P135S|CCDC135_uc002emk.3_Missense_Mutation_p.P135S	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	135						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AACCCTCCGGCCCACACTGAT	0.572000														151			69		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584932	82584932	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82584932C>T	uc003uhx.2	-	4	5626	c.5337G>A	c.(5335-5337)ttG>ttA	p.L1779L	PCLO_uc003uhv.2_Silent_p.L1779L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1710					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						CTTCCTCTCTCAATTCTTCTT	0.393000														86			39		0	0	1	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177317	89177317	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:89177317C>T	uc022bzr.1	+	0	233	c.233C>T	c.(232-234)cCt>cTt	p.P78L	TGIF2LX_uc004efe.3_Missense_Mutation_p.P78L	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	78						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P78S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AAGGCCTACCCTTCAGAAGAA	0.478000														37			72		0	0	1	0	0
DEFB1	1672	broad.mit.edu	37	8	6728337	6728337	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:6728337G>A	uc003wqs.2	-	1	223	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F		NM_005218	NP_005209	P60022	DEFB1_HUMAN	Homo sapiens defensin, beta 1 (DEFB1), mRNA.	25					G-protein coupled receptor protein signaling pathway|chemotaxis|defense response to bacterium|innate immune response	extracellular region				lung(1)	1			STAD - Stomach adenocarcinoma(24;0.0984)	COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.128)		AGGCCTGTGAGAAAGTTACCA	0.468000														35			12		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45945563	45945563	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45945563A>G	uc002zfe.1	-	7	1375	c.1309T>C	c.(1309-1311)Ttc>Ctc	p.F437L	TSPEAR_uc010gpv.1_Missense_Mutation_p.F369L	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	437					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ACCGCCAGGAAGTGCTCCCCA	0.602000														119			47		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179553422	179553422	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179553422C>T	uc021vsy.1	-	122	28672	c.28447G>A	c.(28447-28449)Gaa>Aaa	p.E9483K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6144K|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10410							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)			CGCGTGACTTCCACTCTTTGA	0.388000														53			34		0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180338371	180338372	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:180338371_180338372GG>AA	uc003mmp.3	+	2	664_665	c.430_431GG>AA	c.(430-432)gga>AAa	p.G144K	BTNL8_uc003mmq.3_Missense_Mutation_p.G144K|BTNL8_uc010jll.3_Missense_Mutation_p.G144K|BTNL8_uc011dhg.2_Missense_Mutation_p.G19K|BTNL8_uc010jlm.3_Missense_Mutation_p.G28K|BTNL8_uc011dhh.2_5'UTR	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	144	Ig-like V-type 2.					integral to membrane		p.T143T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCATCACGGGATATGTTGAT	0.525000														404			38		0	0	1	0	0
MT1F	4494	broad.mit.edu	37	16	56693046	56693046	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:56693046G>A	uc002ejt.3	+	2	272	c.156G>A	c.(154-156)ggG>ggA	p.G52G		NM_005949	NP_005940	P04733	MT1F_HUMAN	Homo sapiens metallothionein 1F (MT1F), mRNA.	52	Alpha.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										TTTGCAAAGGGGCGTCAGAGA	0.527000														153			10		0	0	1	0	0
WISP2	8839	broad.mit.edu	37	20	43355922	43355922	+	Missense_Mutation	SNP	C	T	T	rs144332553	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43355922C>T	uc002xmp.3	+	3	874	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	LOC79015_uc002xml.1_Intron|WISP2_uc002xmq.3_Silent_p.V160V	NM_003881	NP_003872	O76076	WISP2_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 2 (WISP2), mRNA.	243					cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CTCCAGGGGTCGCAGTCCACA	0.682000														32			9		0	0	1	0	0
MKKS	8195	broad.mit.edu	37	20	10393713	10393713	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:10393713G>A	uc002wnt.1	-	2	1337	c.450C>T	c.(448-450)ctC>ctT	p.L150L	MKKS_uc002wnu.1_Silent_p.L150L|MKKS_uc010zrd.1_Intron	NM_018848	NP_740754	Q9NPJ1	MKKS_HUMAN	Homo sapiens McKusick-Kaufman syndrome (MKKS), transcript variant 1, mRNA.	150					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						CCAAACAAAGGAGGATCTGAG	0.408000														83			34		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174955	63174955	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:63174955G>A	uc001xfx.3	-	10	2289	c.2238C>T	c.(2236-2238)tcC>tcT	p.S746S	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	746					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTCCGGTGATGGAGGCTCCAT	0.537000														86			7		0	0	1	0	0
ISYNA1	51477	broad.mit.edu	37	19	18547253	18547253	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18547253A>T	uc002njd.2	-	5	864	c.646T>A	c.(646-648)Tct>Act	p.S216T	ISYNA1_uc002nja.2_Missense_Mutation_p.S88T|ISYNA1_uc002njb.2_Missense_Mutation_p.S134T|ISYNA1_uc002njc.2_Missense_Mutation_p.S66T|ISYNA1_uc010xqh.2_Missense_Mutation_p.S14T|ISYNA1_uc002nje.2_Missense_Mutation_p.S162T	NM_016368	NP_001164410	Q9NPH2	INO1_HUMAN	Homo sapiens inositol-3-phosphate synthase 1 (ISYNA1), transcript variant 1, mRNA.	216					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						CCCGCGCTAGACCGGAAGTCT	0.587000														95			39		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48413782	48413782	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48413782G>A	uc001jfa.1	-	1	1246	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	362					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CAGCCAAGGGGAAGAAGCAGC	0.582000														51			19		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36036035	36036035	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:36036035G>A	uc003jjz.2	-	6	1469	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	UGT3A2_uc011cos.2_Missense_Mutation_p.S412F|UGT3A2_uc011cot.2_Missense_Mutation_p.S144F	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	446						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGCGGGTGGGAGCGCAGGAT	0.587000														38			10		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37164388	37164388	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:37164388G>A	uc011cpa.1	-	36	7806	c.7575C>T	c.(7573-7575)ttC>ttT	p.F2525F	C5orf42_uc011coy.1_Silent_p.F1025F|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.F1600F	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2525								p.F1405F(1)|p.F2525F(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AAGGAACGTCGAAGTCATCCA	0.318000														69			34		0	0	1	0	0
KIF12	113220	broad.mit.edu	37	9	116858451	116858451	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116858451G>A	uc004bif.3	-	5	599	c.361C>T	c.(361-363)Cct>Tct	p.P121S	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	254	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CCACCAACAGGGGGCTCCCCA	0.597000														55			7		0	0	1	0	0
CD247	919	broad.mit.edu	37	1	167487664	167487664	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167487664C>T	uc001gei.4	-	0	184	c.39G>A	c.(37-39)caG>caA	p.Q13Q	CD247_uc001gej.4_Silent_p.Q13Q|CD247_uc001gek.2_Silent_p.Q13Q	NM_198053	NP_932170	P20963	CD3Z_HUMAN	Homo sapiens CD247 molecule (CD247), transcript variant 1, mRNA.	13					T cell costimulation|T cell receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			GCAACTGTGCCTGCAGGATGG	0.597000														71			6		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645535	45645535	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:45645535C>T	uc003jok.3	-	1	626	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	201						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GAACTGTCTTCATTGACAGTC	0.388000														77			27		0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33875446	33875446	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33875446G>A	uc021wck.1	-	3	1254	c.1136C>T	c.(1135-1137)tCg>tTg	p.S379L	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	379										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACCCAGGGACGAGGACACCAC	0.632000														25			11		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77282723	77282723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77282723G>A	uc004aji.3	+	7	1099	c.1050G>A	c.(1048-1050)gtG>gtA	p.V350V	RORB_uc004ajh.3_Silent_p.V339V	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	350	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.V339V(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ATGACCTAGTGAATGAAGCAT	0.383000														72			33		0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161821579	161821579	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161821579C>T	uc001gbs.3	+	10	1504	c.1387C>T	c.(1387-1389)Cct>Tct	p.P463S	ATF6_uc001gbq.2_Missense_Mutation_p.P463S	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	463	Poly-Pro.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GCTTTACATTCCTCCACCTCC	0.398000														200			77		0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94915077	94915077	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94915077C>T	uc001ydd.1	-	1	95	c.35G>A	c.(34-36)gGg>gAg	p.G12E		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	12					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GGCCAGGATCCCTGTTCCCAG	0.522000														91			30		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128498132	128498132	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128498132C>T	uc003vnz.4	+	46	8060	c.7851C>T	c.(7849-7851)tcC>tcT	p.S2617S	FLNC_uc003voa.4_Silent_p.S2584S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2617	Hinge 2.|Interaction with INPPL1.|Self-association site, tail (By similarity).				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGACCAAGTCCTCCTCAAGCC	0.637000														23			7		0	0	1	0	0
C19orf33	64073	broad.mit.edu	37	19	38795318	38795318	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38795318G>A	uc002ohu.1	+	2	291	c.193G>A	c.(193-195)Gat>Aat	p.D65N	YIF1B_uc002ohw.2_3'UTR|YIF1B_uc002ohx.2_3'UTR|YIF1B_uc010xtx.1_3'UTR|YIF1B_uc010xty.1_3'UTR|YIF1B_uc002oia.2_3'UTR|YIF1B_uc002ohy.2_3'UTR|YIF1B_uc002ohz.2_3'UTR|C19orf33_uc002ohv.1_Silent_p.R84R	NM_033520	NP_277055	Q9GZP8	IMUP_HUMAN	Homo sapiens chromosome 19 open reading frame 33 (C19orf33), mRNA.	65						nucleus						all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TTCGGACACGGATGTGAAGGT	0.692000														32			17		0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080338	5080338	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5080338G>A	uc010qyw.2	-	0	520	c.520C>T	c.(520-522)Cat>Tat	p.H174Y		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GGAATTACATGATTCCCACAG	0.403000														32			12		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156815774	156815774	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156815774C>T	uc010pht.2	-	8	2247	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	650	Fibronectin type-III 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGTAGAGGTCGCCGTCCTCT	0.706000														26			15		0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112145801	112145801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:112145801G>A	uc004bed.2	-	22	2396	c.2284C>T	c.(2284-2286)Ccc>Tcc	p.P762S	PTPN3_uc004beb.2_Missense_Mutation_p.P631S|PTPN3_uc004bec.2_Missense_Mutation_p.P586S|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.P717S|PTPN3_uc011lwh.1_Missense_Mutation_p.P608S|PTPN3_uc011lwd.1_Missense_Mutation_p.P230S|PTPN3_uc011lwe.1_Missense_Mutation_p.P475S|PTPN3_uc011lwf.1_Missense_Mutation_p.P430S	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	762	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ATGACGTCGGGGGGATCTGGC	0.557000														92			21		0	0	1	0	0
DEFB118	117285	broad.mit.edu	37	20	29960755	29960755	+	Nonsense_Mutation	SNP	C	T	T	rs34328728		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:29960755C>T	uc002wvr.3	+	1	187	c.154C>T	c.(154-156)Cga>Tga	p.R52*		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Homo sapiens defensin, beta 118 (DEFB118), mRNA.	52					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAAAAATCTTCGAGCTTGCTG	0.438000														80			40		0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146256503	146256503	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:146256503G>C	uc003qlf.3	-	11	3043	c.2644C>G	c.(2644-2646)Cgg>Ggg	p.R882G	SHPRH_uc003qle.3_Missense_Mutation_p.R882G|SHPRH_uc003qlg.1_Missense_Mutation_p.R438G|SHPRH_uc003qlj.1_Missense_Mutation_p.R771G|SHPRH_uc003qlh.3_5'Flank	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	882					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CAGTAAGGCCGATAGAGAAGT	0.393000														29			27		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220356557	220356557	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220356557G>A	uc010fwg.3	+	38	9427	c.9427G>A	c.(9427-9429)Gac>Aac	p.D3143N		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	3143	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTCTGCCACGGACATCTGGGG	0.622000														27			10		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43896592	43896592	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:43896592C>T	uc001uza.4	-	10	1489	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	ENOX1_uc001uzc.4_Missense_Mutation_p.E397K|ENOX1_uc001uzb.4_Missense_Mutation_p.E397K|ENOX1_uc010tfm.1_Missense_Mutation_p.E210K	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	397					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		ATTTCTTCTTCGCGGCGGATG	0.478000														58			30		0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33313498	33313498	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:33313498C>T	uc003tdn.1	+	8	1459	c.946C>T	c.(946-948)Caa>Taa	p.Q316*	BBS9_uc003tdo.1_Nonsense_Mutation_p.Q316*|BBS9_uc003tdp.1_Nonsense_Mutation_p.Q316*|BBS9_uc003tdq.1_Nonsense_Mutation_p.Q316*|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc011kan.1_Nonsense_Mutation_p.Q316*|BBS9_uc011kao.1_Nonsense_Mutation_p.Q194*	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	316					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCATATTTATCAAGATGTGAC	0.353000									Bardet-Biedl syndrome					37			19		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13098373	13098373	+	Splice_Site	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:13098373G>T	uc002wod.1	+	8	1441	c.1152_splice	c.e8+1	p.K384_splice		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	384					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TGGAAGGAAGGTAAGAGAGGG	0.483000														71			13		9.31168e-06	9.32811e-06	1	1	0
FAM171A1	221061	broad.mit.edu	37	10	15255485	15255485	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15255485G>A	uc001iob.3	-	7	2109	c.2102C>T	c.(2101-2103)cCg>cTg	p.P701L		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	701						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTGCGGAAGCGGCTTCCCACC	0.577000														84			31		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026783	79026783	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:79026783C>T	uc003kgc.3	+	1	2267	c.2195C>T	c.(2194-2196)cCa>cTa	p.P732L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	732						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TACATGATTCCATCAGAAGAG	0.448000														69			24		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2164218	2164218	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2164218G>A	uc002cos.1	-	10	3015	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.R936C	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	936	PKD 4.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGCGTGGCGCGGAGGCCACAG	0.697000														30			9		0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86919144	86919144	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:86919144T>C	uc001dlr.4	+	12	2410	c.2248T>C	c.(2248-2250)Ttt>Ctt	p.F750L		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	750					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGGAGGCTCCTTTTCAGTGCT	0.488000														110			7		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226080	23226080	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23226080G>A	uc002dlm.1	+	11	1680	c.1541G>A	c.(1540-1542)aGa>aAa	p.R514K		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	514					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CTGAACCAGAGATCCATCATG	0.502000														37			18		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166032863	166032863	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166032863G>A	uc002ucx.3	-	2	534	c.42C>T	c.(40-42)ttC>ttT	p.F14F	SCN3A_uc002ucy.3_Silent_p.F14F|SCN3A_uc002ucz.3_Silent_p.F14F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	14						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.F14F(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TAAAAAGGCGGAAGCTTTCAG	0.428000														124			24		0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414089	20414089	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:20414089G>A	uc003zoe.2	-	4	1014	c.755C>T	c.(754-756)gCc>gTc	p.A252V	MLLT3_uc011lne.1_Missense_Mutation_p.A220V|MLLT3_uc011lnf.1_Missense_Mutation_p.A249V|MLLT3_uc003zof.3_Missense_Mutation_p.A53V|MIR4473_uc022bdy.1_5'Flank	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TTCCTTGAAGGCCATCTTAGG	0.403000			T	MLL	ALL									211			108		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34640205	34640205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34640205C>T	uc010ucc.2	+	2	518	c.136C>T	c.(136-138)Cct>Tct	p.P46S	C15orf55_uc010ucd.2_Missense_Mutation_p.P36S|C15orf55_uc001zif.3_Missense_Mutation_p.P18S	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	18	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GAGCATGAAACCTAGTGCCGC	0.532000			T	"""BRD3, BRD4"""	lethal midline carcinoma									69			13		0	0	1	0	0
SERPINF1	5176	broad.mit.edu	37	17	1674335	1674335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:1674335G>A	uc002ftl.3	+	3	453	c.296G>A	c.(295-297)cGa>cAa	p.R99Q		NM_002615	NP_002606	P36955	PEDF_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 (SERPINF1), mRNA.	99					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GCGGAGCAGCGAACAGAATCC	0.542000														52			56		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42113243	42113243	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42113243C>T	uc001zok.4	+	23	2999	c.2713C>T	c.(2713-2715)Ctt>Ttt	p.L905F	MAPKBP1_uc010bci.3_Missense_Mutation_p.L899F|MAPKBP1_uc010udb.2_Missense_Mutation_p.L738F|MAPKBP1_uc001zoj.4_Missense_Mutation_p.L899F|MAPKBP1_uc010bcj.3_Missense_Mutation_p.L406F|MAPKBP1_uc010bck.3_Missense_Mutation_p.L116F|MAPKBP1_uc010bcl.3_Missense_Mutation_p.L406F	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	905										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCAGGAGGCCCTTGAGACTTC	0.612000														72			15		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254667	51254667	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:51254667C>T	uc021vhh.1	-	0	1666	c.745G>A	c.(745-747)Ggc>Agc	p.G249S	NRXN1_uc021vhg.1_Missense_Mutation_p.G249S|NRXN1_uc021vhi.1_Missense_Mutation_p.G249S|NRXN1_uc021vhj.1_Missense_Mutation_p.G249S|NRXN1_uc021vhk.1_Missense_Mutation_p.G249S	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	249	EGF-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCGCGGAAGCCGGTTCGCGAG	0.756000														28			9		0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44635928	44635928	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:44635928G>A	uc003cnl.1	+	2	576	c.243G>A	c.(241-243)aaG>aaA	p.K81K	ZNF660_uc021wwp.1_Silent_p.K81K	NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	Homo sapiens zinc finger protein 660 (ZNF660), mRNA.	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		ATAAGTGTAAGGAGTGTGGAA	0.448000														80			24		0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	7026910	7026910	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:7026910C>T	uc011bwg.2	+	12	2016	c.1937C>T	c.(1936-1938)cCc>cTc	p.P646L	TBC1D14_uc003gjs.4_Missense_Mutation_p.P646L|TBC1D14_uc010idh.3_Missense_Mutation_p.P366L|TBC1D14_uc011bwh.2_Missense_Mutation_p.P293L|TBC1D14_uc003gju.4_Missense_Mutation_p.P137L	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	646						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						ACCCGGCTGCCCGAGGACCTG	0.597000														55			29		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50592458	50592458	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:50592458G>A	uc002lfe.2	+	6	1799	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	DCC_uc010xdr.1_Missense_Mutation_p.E243K|DCC_uc010dpf.2_Missense_Mutation_p.E50K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	395	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAAGTCAGATGAAGGCTTTTA	0.443000														190			12		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53617456	53617456	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:53617456G>A	uc004dsp.3	-	34	4501	c.4099C>T	c.(4099-4101)Ctc>Ttc	p.L1367F	HUWE1_uc004dsn.3_Missense_Mutation_p.L192F	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1367					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.T1367P(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GACATGCTGAGATCCTAGAGT	0.438000														54			11		0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83221249	83221249	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83221249C>T	uc002bit.3	-	7	1513	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q	CPEB1_uc002bir.3_Missense_Mutation_p.R324Q|CPEB1_uc002bis.3_Missense_Mutation_p.R319Q|CPEB1_uc010uod.2_Missense_Mutation_p.R168Q|CPEB1_uc002biq.3_Missense_Mutation_p.R319Q|CPEB1_uc010uoe.2_Missense_Mutation_p.R397Q|CPEB1_uc002biu.3_Missense_Mutation_p.R421Q|CPEB1_uc010uof.2_Missense_Mutation_p.R319Q|CPEB1_uc002biv.3_Missense_Mutation_p.R394Q|CPEB1_uc002bip.3_Missense_Mutation_p.R168Q	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	399	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCGCATCCTTCGGCTGGACAT	0.502000														77			7		0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19822367	19822367	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19822367G>A	uc002nnk.1	-	3	1877	c.1723C>T	c.(1723-1725)Cga>Tga	p.R575*		NM_021030	NP_066358	P17017	ZNF14_HUMAN	Homo sapiens zinc finger protein 14 (ZNF14), mRNA.	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R575*(2)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCATGCATTCGAAATTTACTG	0.403000														64			24		0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153541044	153541044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:153541044C>T	uc004fkg.3	+	5	970	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	TKTL1_uc011mzl.2_Missense_Mutation_p.P256S|TKTL1_uc011mzm.2_Intron|TKTL1_uc004fkh.3_Missense_Mutation_p.P206S	NM_012253	NP_001139406	P51854	TKTL1_HUMAN	Homo sapiens transketolase-like 1 (TKTL1), transcript variant 1, mRNA.	262					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGACCCACAGCCCCCCATTGA	0.468000														27			36		0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22006104	22006104	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:22006104G>A	uc003xav.3	-	7	1505	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	LGI3_uc010ltu.3_Missense_Mutation_p.R382C	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	406					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TTCTGGGTGCGACTCCACTGA	0.622000														28			10		0	0	1	0	0
LHX2	9355	broad.mit.edu	37	9	126794954	126794955	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:126794954_126794955CC>TT	uc010mwi.1	+	4	1952_1953	c.1213_1214CC>TT	c.(1213-1215)ccc>TTc	p.P405F	LHX2_uc004boe.1_Missense_Mutation_p.P397F	NM_004789	NP_004780	P50458	LHX2_HUMAN	Homo sapiens LIM homeobox 2 (LHX2), mRNA.	397				GHEPHSPSQTTLTNLF -> AMSLTAPHKRLLPTFSNDSQP PHPTISLKKKLSLV (in Ref. 1; AAB08752).		nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						GCCTCACAGCCCCTCACAAACG	0.490000														61			23		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888670	38888670	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38888670C>T	uc021wvy.1	-	25	5090	c.4891G>A	c.(4891-4893)Gaa>Aaa	p.E1631K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1631					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1631K(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCAAACTTTTCCCACACTTCA	0.408000														139			42		0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156351651	156351651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156351651G>A	uc010pho.2	+	5	933	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	RHBG_uc010phm.1_Missense_Mutation_p.E137K|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Missense_Mutation_p.E230K|RHBG_uc009wrz.3_Missense_Mutation_p.E267K|RHBG_uc001for.3_Missense_Mutation_p.E269K	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	299					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GACCTCAAGTGAAATGATGCT	0.557000														66			24		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58209161	58209161	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:58209161G>A	uc001vhq.1	+	0	3373	c.2481G>A	c.(2479-2481)caG>caA	p.Q827Q	PCDH17_uc010aec.1_Silent_p.Q827Q	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	827					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTGTCCCTCAGGGGCACGCGG	0.602000														30			13		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78321852	78321852	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:78321852C>T	uc002jyh.2	+	29	10007	c.9864C>T	c.(9862-9864)ccC>ccT	p.P3288P	RNF213_uc021uen.1_Silent_p.P3239P	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGCAGGGTCCCCGGGCCTTGA	0.617000														49			17		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130883776	130883776	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:130883776G>A	uc003kvn.2	-	5	665	c.459C>T	c.(457-459)acC>acT	p.T153T	RAPGEF6_uc003kvp.2_Silent_p.T203T|RAPGEF6_uc003kvo.2_Silent_p.T153T|RAPGEF6_uc010jdi.2_Silent_p.T153T|RAPGEF6_uc010jdj.2_Silent_p.T153T|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Silent_p.T153T|RAPGEF6_uc010jdk.3_Silent_p.T153T	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	153					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CATCAGTAATGGTTTGGCGCT	0.333000														107			33		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436697	248436697	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248436697C>T	uc010pzi.2	-	0	420	c.420G>A	c.(418-420)ctG>ctA	p.L140L		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			TGGTCATCCTCAGGCACAGCT	0.582000														167			32		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7679435	7679435	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:7679435C>T	uc021pmv.1	-	4	514	c.408G>A	c.(406-408)aaG>aaA	p.K136K	ITIH5_uc001ijr.2_Silent_p.K136K	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	136	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTTCAGTCCCCTTCTCTCTGT	0.542000														78			7		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121694075	121694076	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:121694075_121694076CC>TT	uc003vjy.3	+	25	6759_6760	c.6364_6365CC>TT	c.(6364-6366)cct>TTt	p.P2122F	PTPRZ1_uc011knt.2_Missense_Mutation_p.P1262F|PTPRZ1_uc003vjz.3_Missense_Mutation_p.P1255F	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	2122	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGTTATGATTCCTGATGGCCAA	0.431000														123			54		0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25701888	25701888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:25701888C>T	uc001bkf.3	-	7	1191	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	RHCE_uc001bkg.3_Missense_Mutation_p.G324E|RHCE_uc001bkh.3_Intron|RHCE_uc001bki.3_Missense_Mutation_p.E218K|RHCE_uc001bkj.3_Missense_Mutation_p.E353K	NM_020485	NP_065231	P18577	RHCE_HUMAN	Homo sapiens Rh blood group, CcEe antigens (RHCE), transcript variant 1, mRNA.	369						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCTGAGTTCCCCAATGCTG	0.547000														172			45		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82578963	82578963	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82578963G>A	uc003uhx.2	-	5	11230	c.10941C>T	c.(10939-10941)ctC>ctT	p.L3647L	PCLO_uc003uhv.2_Silent_p.L3647L|PCLO_uc010lec.3_Silent_p.L612L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3578					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.L3647I(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						TATCATCAGGGAGGGGTTTTT	0.473000														182			59		0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5868478	5868478	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:5868478G>A	uc003gis.3	-	1	476	c.387C>T	c.(385-387)gaC>gaT	p.D129D	CRMP1_uc003giq.3_Silent_p.D15D|CRMP1_uc003gir.3_Silent_p.D10D	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	15					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TGAGGAGTCGGTCACTCTGCA	0.378000														51			14		0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380453	56380453	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56380453G>A	uc001nja.1	-	0	526	c.526C>T	c.(526-528)Cat>Tat	p.H176Y	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	176					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						CAGTAGAAATGATTGATTTCA	0.453000														50			13		0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176556167	176556167	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:176556167C>T	uc003iuf.3	-	6	1530	c.726G>A	c.(724-726)gtG>gtA	p.V242V	GPM6A_uc011ckj.2_Silent_p.V235V|GPM6A_uc003iug.3_Silent_p.V242V|GPM6A_uc003iuh.3_Silent_p.V231V	NM_201591	NP_963885	P51674	GPM6A_HUMAN	Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA.	242			V -> L (in dbSNP:rs1049820).			cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		AGGCGTCTTTCACATAGGCCC	0.433000														43			16		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698548	96698548	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96698548C>T	uc001kka.4	+	0	134	c.109C>T	c.(109-111)Cca>Tca	p.P37S	CYP2C9_uc009xut.3_Missense_Mutation_p.P37S|CYP2C9_uc001kjz.3_Missense_Mutation_p.P37S	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	37					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CACTCCTCTCCCAGTGATTGG	0.458000														129			47		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156877930	156877930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156877930G>A	uc001fqj.1	+	8	1029	c.913G>A	c.(913-915)Gag>Aag	p.E305K	PEAR1_uc009wsl.1_Missense_Mutation_p.E106K|PEAR1_uc001fqk.1_5'UTR	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	305						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)					GTGCCGGGAGGAGTGCCCGGT	0.711000														14			4		0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129875931	129875931	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:129875931C>T	uc009yat.3	+	19	2226	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	PTPRE_uc001lkb.3_Silent_p.F592F|PTPRE_uc009yau.2_Silent_p.F592F|PTPRE_uc001lkd.3_Silent_p.F534F|PTPRE_uc010quq.1_Silent_p.F493F	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	592	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				AGTTTCACTTCCACGGCTGGC	0.662000														47			7		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169509663	169509663	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169509663C>T	uc001ggg.1	-	12	4810	c.4665G>A	c.(4663-4665)agG>agA	p.R1555R		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1555	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.V1554A(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGATGTTTGTCCTAACATCAG	0.418000														47			29		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2020477	2020477	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2020477G>A	uc003wpx.4	+	8	984	c.846G>A	c.(844-846)gaG>gaA	p.E282E	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	282	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle	p.L281fs*23(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AGTTTTTGGAGAAGTTTGGGG	0.597000														48			16		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38917344	38917344	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38917344C>T	uc021yzh.1	+	80	12355	c.12246C>T	c.(12244-12246)atC>atT	p.I4082I	DNAH8_uc003ooe.2_Silent_p.I3865I|DNAH8_uc003oog.1_Silent_p.I314I|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTTACTTATCAGGTGAGAAC	0.363000														86			17		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898490	175898490	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:175898490G>A	uc003iuc.3	+	4	2484	c.1814G>A	c.(1813-1815)gGg>gAg	p.G605E	ADAM29_uc003iud.3_Missense_Mutation_p.G605E|ADAM29_uc010irr.3_Missense_Mutation_p.G605E|ADAM29_uc011cki.2_Missense_Mutation_p.G605E|ADAM29_uc021xuo.1_Missense_Mutation_p.G605E	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	605	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACAGAGTGTGGGATAGATCAT	0.428000														157			46		0	0	1	0	0
ALOX5AP	241	broad.mit.edu	37	13	31318246	31318246	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:31318246G>A	uc010tdr.2	+	2	539	c.291G>A	c.(289-291)agG>agA	p.R97R	ALOX5AP_uc001utf.2_Silent_p.R40R	NM_001204406	NP_001191335	P20292	AL5AP_HUMAN	Homo sapiens arachidonate 5-lipoxygenase-activating protein (ALOX5AP), transcript variant 2, mRNA.	40					cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		AGAATGGGAGGAGCTTCCAGA	0.542000														51			10		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240341341	240341341	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240341341G>A	uc010pye.2	+	2	2128	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	FMN2_uc010pyd.2_Missense_Mutation_p.E635K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	635					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCCGATGAGGAACACAGGCT	0.473000														62			19		0	0	1	0	0
SLC27A4	10999	broad.mit.edu	37	9	131117932	131117932	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131117932C>T	uc004but.3	+	11	1916	c.1631C>T	c.(1630-1632)aCc>aTc	p.T544I	SLC27A4_uc004buu.3_Missense_Mutation_p.T138I	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	544					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	p.G543*(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CCCCCAGGAACCGAGGGCCGG	0.657000														72			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596949	179596949	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179596949C>T	uc021vsy.1	-	53	13240	c.13015G>A	c.(13015-13017)Gaa>Aaa	p.E4339K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1000K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5266	Ig-like 23.						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)			TCCTTAATTTCTCTATCATTT	0.428000														154			48		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4201420	4201420	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:4201420C>T	uc003smx.3	+	31	4871	c.4732C>T	c.(4732-4734)Cca>Tca	p.P1578S	SDK1_uc010kso.3_Missense_Mutation_p.P854S|SDK1_uc003smy.3_Missense_Mutation_p.P65S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1578	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGTTTCAGTTCCAGGAGAGCC	0.607000														140			31		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50557805	50557805	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:50557805C>T	uc001zxz.3	-	0	358	c.16G>A	c.(16-18)Gag>Aag	p.E6K	HDC_uc010uff.2_Missense_Mutation_p.E6K|HDC_uc010bet.2_Missense_Mutation_p.E6K|HDC_uc010beu.2_Missense_Mutation_p.E6K	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	6					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TCTCTGTACTCCTCAGGCTCC	0.617000														28			15		0	0	1	0	0
GSTM3	2947	broad.mit.edu	37	1	110280755	110280755	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110280755A>T	uc001dyo.2	-	5	640	c.330T>A	c.(328-330)gaT>gaA	p.D110E	GSTM3_uc001dyp.2_Missense_Mutation_p.D107E|GSTM3_uc010ovv.2_Missense_Mutation_p.D110E	NM_000849	NP_000840	P21266	GSTM3_HUMAN	Homo sapiens glutathione S-transferase mu 3 (brain) (GSTM3), transcript variant 1, mRNA.	110	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GTGTGCGGAAATCCATTACTT	0.443000														43			21		0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145415657	145415657	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:145415657G>A	uc001eni.2	+	2	801	c.476G>A	c.(475-477)gGt>gAt	p.G159D	HFE2_uc001enk.2_Missense_Mutation_p.G46D|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	159					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGGCTGCATGGTCGTCCCCCG	0.687000														46			14		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7618552	7618552	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:7618552G>A	uc021pmv.1	-	9	1948	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F	ITIH5_uc021pmu.1_Silent_p.F400F|ITIH5_uc001ijr.2_Silent_p.F614F	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	614					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						AGGGAGTGAGGAAGCGGTAGC	0.667000														53			20		0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70145692	70145692	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:70145692G>A	uc004dyn.3	-	11	2005	c.1831C>T	c.(1831-1833)Ccc>Tcc	p.P611S	SLC7A3_uc004dyo.3_Missense_Mutation_p.P611S	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	611					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGAGTGCCGGGATCAAGGTCT	0.498000														21			29		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75036941	75036942	+	Missense_Mutation	DNP	CC	TT	TT	rs139857791	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75036941_75036942CC>TT	uc001dgg.3	-	13	4671_4672	c.4452_4453GG>AA	c.(4450-4455)agggaa>agAAaa	p.E1485K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1485	Glu-rich.									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						GGACTCAATTCCCTCTCTCCCT	0.545000														157			69		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3681616	3681616	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:3681616C>T	uc003smx.3	+	3	731	c.592C>T	c.(592-594)Cag>Tag	p.Q198*		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	198	Ig-like C2-type 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGATACGGACCAGAGGAAAAC	0.468000														66			13		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121279119	121279119	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:121279119G>A	uc003yox.3	+	24	3335	c.3070G>A	c.(3070-3072)Gaa>Aaa	p.E1024K	COL14A1_uc003yoy.3_Missense_Mutation_p.E702K	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1024					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCAGCAAAAGAAGGTAAAAG	0.363000														167			28		0	0	1	0	0
MBLAC2	153364	broad.mit.edu	37	5	89757138	89757138	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89757138G>A	uc003kjp.3	-	1	1162	c.686C>T	c.(685-687)cCt>cTt	p.P229L		NM_203406	NP_981951	Q68D91	MBLC2_HUMAN	Homo sapiens metallo-beta-lactamase domain containing 2 (MBLAC2), mRNA.	229							hydrolase activity|metal ion binding			kidney(1)|liver(1)|lung(3)	5						GAAGTGCCCAGGAAGCACCTT	0.423000														114			15		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857425	210857425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:210857425C>T	uc001hib.2	-	10	2338	c.2168G>A	c.(2167-2169)cGa>cAa	p.R723Q	KCNH1_uc001hic.2_Missense_Mutation_p.R696Q	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	723	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.R723Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTCATTCTTTCGTTTCATGCG	0.552000														55			16		0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72724649	72724649	+	Missense_Mutation	SNP	G	A	A	rs146519251		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:72724649G>A	uc004ahm.2	+	3	1051	c.434G>A	c.(433-435)gGt>gAt	p.G145D	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	145	MAM 1.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTAATAGAAGGTGTACTAGGA	0.403000														154			23		0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155018608	155018608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155018608G>A	uc001fgn.2	+	11	1394	c.1280G>A	c.(1279-1281)cGg>cAg	p.R427Q	DCST1_uc010per.2_Missense_Mutation_p.R452Q|DCST1_uc010pes.2_Missense_Mutation_p.R402Q|LOC100505666_uc021pam.1_Non-coding_Transcript|LOC100505666_uc021pan.1_Non-coding_Transcript	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	427						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CAGGGCAAACGGACTCTGCTG	0.557000														74			22		0	0	1	0	0
MIP	4284	broad.mit.edu	37	12	56847402	56847402	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56847402G>A	uc001slh.3	-	1	536	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_012064	NP_036196	P30301	MIP_HUMAN	Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.	166					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GGGCAAGGGAGAAGCCAACGG	0.567000														62			27		0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24775148	24775148	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24775148G>A	uc003xed.4	+	2	1813	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K	NEFM_uc011lac.1_Intron|NEFM_uc010lue.3_Missense_Mutation_p.E218K	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	594	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		aaagagtgaggaagTGGCTAC	0.488000														26			11		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65260293	65260293	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:65260293G>A	uc001xht.3	-	12	2139	c.2088C>T	c.(2086-2088)atC>atT	p.I696I	SPTB_uc001xhr.3_Silent_p.I696I|SPTB_uc001xhs.3_Silent_p.I696I|SPTB_uc001xhu.3_Silent_p.I696I	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	696					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTCCTGGAAGATCTGCTCCA	0.587000														25			19		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24432531	24432531	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24432531C>T	uc001bin.4	-	4	602	c.439G>A	c.(439-441)Gag>Aag	p.E147K	MYOM3_uc001bio.3_Missense_Mutation_p.E147K|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	147								p.E147K(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TAGCACAGCTCCCTCAGCTCC	0.642000														34			12		0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52091439	52091439	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52091439A>G	uc002pxb.3	+	4	2233	c.1855A>G	c.(1855-1857)Aaa>Gaa	p.K619E	AX748312_uc002pxc.1_5'Flank	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	Homo sapiens zinc finger protein 175 (ZNF175), mRNA.	619					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TGTCTGTTACAAATGTGGGAA	0.433000														145			69		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171086461	171086461	+	Missense_Mutation	SNP	C	T	T	rs61008738	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171086461C>T	uc001ghi.3	+	8	1589	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L	FMO3_uc001ghh.3_Missense_Mutation_p.S493L|FMO3_uc010pmb.2_Missense_Mutation_p.S473L|FMO3_uc010pmc.2_Missense_Mutation_p.S430L	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	493					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.S493*(2)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGGACCGGTCGTTGAAACCC	0.517000														49			28		0	0	1	0	0
SFXN1	94081	broad.mit.edu	37	5	174940517	174940517	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:174940517G>A	uc003mda.2	+	6	786	c.648G>A	c.(646-648)ggG>ggA	p.G216G	SFXN1_uc003mdb.1_Silent_p.G155G	NM_022754	NP_073591	Q9H9B4	SFXN1_HUMAN	Homo sapiens sideroflexin 1 (SFXN1), mRNA.	216					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACCGCTTGGGGGAGTCGGCGA	0.517000														57			28		0	0	1	0	0
BSPRY	54836	broad.mit.edu	37	9	116132182	116132182	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116132182C>T	uc004bhg.4	+	5	1017	c.969C>T	c.(967-969)ttC>ttT	p.F323F	BSPRY_uc010muw.3_3'UTR	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.	323	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						ACAATGCCTTCTCCTGGGTCT	0.607000														44			22		0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3779070	3779070	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3779070G>A	uc002lyt.3	-	11	1517	c.1117C>T	c.(1117-1119)Ctg>Ttg	p.L373L	MATK_uc002lyv.3_Silent_p.L374L|MATK_uc002lyu.3_Silent_p.L332L|MATK_uc010dtq.3_Silent_p.L373L|JA611290_uc021umx.1_5'Flank	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	373	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTTGGCCAGGCCAAAGTCG	0.637000														30			10		0	0	1	0	0
AX747417	0	broad.mit.edu	37	3	95374164	95374164	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:95374164C>T	uc003dro.1	-	4		c.1698G>A								Homo sapiens cDNA FLJ34909 fis, clone NT2RI2009301, moderately similar to BIFUNCTIONAL METHYLENETETRAHYDROFOLATE DEHYDROGENASE/CYCLOHYDROLASE, MITOCHONDRIAL PRECURSOR.																		GGAGTATATCCATGAGATATT	0.403000														43			18		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531707	50531707	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50531707C>T	uc021pqb.1	+	0	1117	c.1117C>T	c.(1117-1119)Caa>Taa	p.Q373*	C10orf71_uc021pqa.1_Nonsense_Mutation_p.Q372*|C10orf71_uc021pqc.1_Nonsense_Mutation_p.Q373*	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	373										endometrium(1)	1						ACCTGATTCTCAAGAGAAGCC	0.512000														69			16		0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55569674	55569675	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55569674_55569675GG>AA	uc021onw.1	-	41	5152_5153	c.4899_4900CC>TT	c.(4897-4902)agccga>agTTga	p.R1634*	USP24_uc001cyg.4_Nonsense_Mutation_p.R1468*	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	1634					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GCTGCCAATCGGCTATTCGCTG	0.347000														6			7		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187192915	187192915	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187192915C>T	uc003iza.1	+	2	541	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S	F11_uc003iyz.3_Missense_Mutation_p.P70S	NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	70	Apple 1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	ATCTGAGGATCCCACCCGATG	0.418000														97			28		0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67380159	67380160	+	Splice_Site	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67380159_67380160GG>AA	uc002esv.3	+	3	218	c.199_splice	c.e3-1	p.G67_splice	LRRC36_uc002esw.3_Splice_Site|LRRC36_uc010ceh.3_5'Flank|LRRC36_uc002esx.3_5'Flank|LRRC36_uc010vjk.2_5'Flank|LRRC36_uc010vjl.2_5'Flank	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.	67										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TTCCTTGTAGGGAATCCAGTAT	0.361000														74			23		0	0	1	0	0
GTF2F2	2963	broad.mit.edu	37	13	45725907	45725907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:45725907C>T	uc001uzw.3	+	3	405	c.245C>T	c.(244-246)cCa>cTa	p.P82L		NM_004128	NP_004119	P13984	T2FB_HUMAN	Homo sapiens general transcription factor IIF, polypeptide 2, 30kDa (GTF2F2), mRNA.	82					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		AGAGAACATCCATTTGTCTTG	0.368000														161			60		0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110902115	110902115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:110902115G>A	uc002tfn.4	-	14	1643	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S	NPHP1_uc002tfm.4_Missense_Mutation_p.P462S|NPHP1_uc002tfl.4_Missense_Mutation_p.P518S|NPHP1_uc002tfo.4_Missense_Mutation_p.P399S|NPHP1_uc010ywx.2_Missense_Mutation_p.P461S|NPHP1_uc010fjv.1_Missense_Mutation_p.P461S	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	517					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTTTCATAAGGAGTACCACCA	0.358000														70			33		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7695297	7695297	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7695297G>A	uc002giu.1	+	43	6977	c.6963G>A	c.(6961-6963)atG>atA	p.M2321I		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2321					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTTCAGCATGATCTGGTCTG	0.532000														78			55		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60689058	60689058	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:60689058G>A	uc002sae.1	-	3	1217	c.989C>T	c.(988-990)cCg>cTg	p.P330L	BCL11A_uc002sab.3_Missense_Mutation_p.P330L|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.P296L|BCL11A_uc002sad.1_Missense_Mutation_p.P178L|BCL11A_uc002saf.1_Missense_Mutation_p.P296L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	330	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGGGGACAGCGGTGGGCTAGA	0.612000			T	IGH@	B-CLL									138			57		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053020	17053020	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:17053020C>T	uc011awc.2	+	2	2254	c.2158C>T	c.(2158-2160)Ctc>Ttc	p.L720F	PLCL2_uc011awd.2_Missense_Mutation_p.L602F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	728	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TGGCTATGTCCTCCGGCCAGC	0.483000														66			23		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3313082	3313082	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3313082G>A	uc001akf.3	+	4	683	c.601G>A	c.(601-603)Gag>Aag	p.E201K	PRDM16_uc001ake.3_Missense_Mutation_p.E201K|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.E201K	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	201	SET.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TAAGGACATTGAGCCAGGTGA	0.572000			T	EVI1	"""MDS, AML"""									13			5		0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146807307	146807307	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:146807307G>A	uc003ikn.3	-	3	1318	c.1270C>T	c.(1270-1272)Cat>Tat	p.H424Y	ZNF827_uc003ikm.3_Missense_Mutation_p.H424Y|ZNF827_uc010iox.3_Missense_Mutation_p.H74Y	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TGGTGCTGATGAACCTGACGG	0.502000														17			7		0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30585176	30585176	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30585176G>A	uc002wxe.3	+	2	1830	c.1656G>A	c.(1654-1656)gaG>gaA	p.E552E		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	552						integral to membrane		p.L551L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGCACTGGAGTACTCCTCAC	0.602000														98			22		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53662562	53662562	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53662562C>T	uc001sck.2	+	1	103	c.12C>T	c.(10-12)ttC>ttT	p.F4F	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	4					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGAGGAGCTTCAAAAGAGTCA	0.532000														14			3		0	0	1	0	0
ACTA1	58	broad.mit.edu	37	1	229568311	229568311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:229568311C>T	uc001htm.3	-	2	551	c.446G>A	c.(445-447)aGg>aAg	p.R149K		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	149					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	ACCGGTGGTCCTGCCGGAGGC	0.711000														48			20		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933697	94933697	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94933697G>A	uc001ydf.3	-	2	866	c.705C>T	c.(703-705)caC>caT	p.H235H	SERPINA9_uc001yde.3_Silent_p.H135H|SERPINA9_uc010avc.3_Silent_p.H86H|SERPINA9_uc001ydg.3_Silent_p.H199H|SERPINA9_uc001ydh.1_Silent_p.H235H|SERPINA9_uc001ydi.1_Silent_p.H199H	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.	217					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)		TATATTCAGGGTGAAAGGGCT	0.468000														35			15		0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067202	18067202	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:18067202C>T	uc003stz.3	-	0	285	c.204G>A	c.(202-204)atG>atA	p.M68I		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	68					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCAAAAGCTCCATTAGACTGT	0.478000														278			102		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15614330	15614330	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15614330G>A	uc001ioc.1	-	24	2517	c.2517C>T	c.(2515-2517)atC>atT	p.I839I	ITGA8_uc010qcb.1_Silent_p.I824I	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	839					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCACCTCCAGGATGGTGTCAC	0.443000														92			39		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277573	140277573	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:140277573G>A	uc003etn.3	+	11	2105	c.1915G>A	c.(1915-1917)Ggc>Agc	p.G639S		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	639					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CACCCTCCGGGGCACAGACCA	0.557000										HNSCC(16;0.037)				70			26		0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99441317	99441317	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:99441317C>T	uc003yin.3	+	1	1460	c.1110C>T	c.(1108-1110)gtC>gtT	p.V370V	KCNS2_uc022azb.1_Silent_p.V370V	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	370						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V370I(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GGGCTACCGTCAGTATGACCA	0.617000														51			23		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32977057	32977057	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:32977057C>T	uc001rlj.4	-	7	1843	c.1728G>A	c.(1726-1728)atG>atA	p.M576I	PKP2_uc001rlk.4_Missense_Mutation_p.M532I|PKP2_uc010skj.2_Missense_Mutation_p.M532I	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	576					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.A575V(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CACATCTTCTCATCGCTTTTC	0.408000														66			31		0	0	1	0	0
PSMG2	56984	broad.mit.edu	37	18	12706668	12706668	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:12706668T>G	uc002krk.3	+	1	297	c.177T>G	c.(175-177)aaT>aaG	p.N59K	PSMG2_uc002krg.3_Missense_Mutation_p.N28K|PSMG2_uc002krj.2_Missense_Mutation_p.N59K	NM_020232	NP_671692	Q969U7	PSMG2_HUMAN	Homo sapiens proteasome (prosome, macropain) assembly chaperone 2 (PSMG2), transcript variant 1, mRNA.	59					proteasome assembly	nucleus	protein binding			lung(1)|prostate(2)|skin(1)	4						TTGGAAACAATCCATATGCGA	0.368000														98			14		0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269430	30269430	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:30269430C>T	uc022buh.1	+	0	820	c.820C>T	c.(820-822)Ccg>Tcg	p.P274S	MAGEB1_uc004dcc.3_Missense_Mutation_p.P274S|MAGEB1_uc004dcd.3_Missense_Mutation_p.P274S|MAGEB1_uc004dce.3_Missense_Mutation_p.P274S	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	274	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCTATGGGGTCCGAGAGCCTA	0.507000														29			46		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75581606	75581606	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:75581606G>A	uc003kei.1	+	6	1182	c.1048_splice	c.e6-1	p.V350_splice		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	350					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CATTTCTTAGGTTGGAAAACA	0.458000														56			23		0	0	1	0	0
NBL1	4681	broad.mit.edu	37	1	19981573	19981573	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:19981573C>T	uc001bcj.2	+	1	238	c.155C>T	c.(154-156)gCt>gTt	p.A52V	NBL1_uc021ohw.1_Missense_Mutation_p.A31V|NBL1_uc009vpl.2_Missense_Mutation_p.A17V|NBL1_uc009vpm.2_Missense_Mutation_p.A17V|NBL1_uc001bck.2_Missense_Mutation_p.A17V|NBL1_uc021ohy.1_Missense_Mutation_p.A16V|NBL1_uc021ohz.1_Missense_Mutation_p.A51V	NM_182744	NP_001191018	P41271	NBL1_HUMAN	Homo sapiens neuroblastoma, suppression of tumorigenicity 1 (NBL1), transcript variant 1, mRNA.	16	CTCK.					extracellular region				lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATGCTACTGGCTGCCCCACCA	0.627000														24			8		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175306769	175306769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175306769C>T	uc001gkp.1	-	16	3510	c.3429G>A	c.(3427-3429)atG>atA	p.M1143I	TNR_uc009wwu.1_Missense_Mutation_p.M1143I	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1143	Fibrinogen C-terminal.				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)					TGTCTCCATTCATCAAATGCT	0.507000														33			18		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396914	197396914	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197396914C>T	uc001gtz.3	+	6	2668	c.2459C>T	c.(2458-2460)tCt>tTt	p.S820F	CRB1_uc010poz.2_Missense_Mutation_p.S751F|CRB1_uc009wza.3_Missense_Mutation_p.S708F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.S301F|CRB1_uc001gub.1_Missense_Mutation_p.S469F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	820	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATTTCTGCTTCTACGTGGAAA	0.373000														42			14		0	0	1	0	0
ELF2	1998	broad.mit.edu	37	4	139988877	139988877	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:139988877G>A	uc003ihp.1	-	5	789	c.538C>T	c.(538-540)Cct>Tct	p.P180S	ELF2_uc003ihm.1_Missense_Mutation_p.P132S|ELF2_uc003ihn.1_Missense_Mutation_p.P120S|ELF2_uc003iho.1_Intron|ELF2_uc010ioh.3_Missense_Mutation_p.P120S	NM_201999	NP_973728	Q15723	ELF2_HUMAN	Homo sapiens E74-like factor 2 (ets domain transcription factor) (ELF2), transcript variant 1, mRNA.	192					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CCTAACTCAGGAGACCCATTG	0.363000														99			43		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193201771	193201771	+	Silent	SNP	G	A	A	rs111773905	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:193201771G>A	uc003ftd.3	-	7	870	c.762C>T	c.(760-762)ctC>ctT	p.L254L	ATP13A4_uc003fte.1_Silent_p.L254L|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	254					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GTGACTCGACGAGATGGTGGA	0.348000														63			48		0	0	1	0	0
ARSG	22901	broad.mit.edu	37	17	66339821	66339821	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:66339821C>T	uc002jhc.2	+	2	1091	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C		NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Homo sapiens arylsulfatase G (ARSG), mRNA.	99					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	p.R99H(1)		NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCTTGGCCTTCGCAATGGAGT	0.607000														53			17		0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114380964	114380964	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:114380964G>A	uc001eds.3	-	12	1188	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	PTPN22_uc021orx.1_Missense_Mutation_p.S353F|PTPN22_uc009wgq.3_Missense_Mutation_p.S298F|PTPN22_uc021ory.1_Missense_Mutation_p.S329F|PTPN22_uc010owo.2_Missense_Mutation_p.S109F|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.S353F|PTPN22_uc009wgs.2_Missense_Mutation_p.S226F|PTPN22_uc001edu.2_Missense_Mutation_p.S353F	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	353					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGTCAAAGGAAGAAGATTC	0.348000														28			12		0	0	1	0	0
PTGDS	5730	broad.mit.edu	37	9	139873743	139873744	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139873743_139873744GG>AA	uc004cke.3	+	2	1353_1354	c.323_324GG>AA	c.(322-324)cgg>cAA	p.R108Q	PTGDS_uc004ckd.3_Non-coding_Transcript	NM_000954	NP_000945	P41222	PTGDS_HUMAN	Homo sapiens prostaglandin D2 synthase 21kDa (brain) (PTGDS), mRNA.	108					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TACAGCTACCGGAGTCCCCGTG	0.688000														62			23		0	0	1	0	0
PLEKHB2	55041	broad.mit.edu	37	2	132110674	132110674	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:132110674C>T	uc002tsh.2	+	6	1065	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S				Q96CS7	PKHB2_HUMAN	Homo sapiens pleckstrin homology domain containing, family B (evectins) member 2 (PLEKHB2), transcript variant 2, mRNA.	0						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		ATGTTTTTTTCCCAGCGAATC	0.478000														27			7		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665966	19665966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:19665966G>A	uc002wrl.3	+	11	1482	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	429						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ggaggacgaggatgatgatga	0.517000														68			22		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6174838	6174838	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:6174838G>A	uc003mwv.3	-	11	1845	c.1722C>T	c.(1720-1722)ttC>ttT	p.F574F	F13A1_uc011dib.2_Silent_p.F511F	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	574					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GCGTCACGTCGAACGTCTCCT	0.522000														147			57		0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41354158	41354158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41354158C>T	uc002opl.4	-	3	641	c.620G>A	c.(619-621)gGa>gAa	p.G207E	CYP2A6_uc010ehe.1_Missense_Mutation_p.G3E|CYP2A6_uc010ehf.1_Non-coding_Transcript	NM_000762	NP_000753	P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	207					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CTGGAAGATTCCTAGCATCAT	0.567000														110			40		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2421882	2421882	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:2421882G>A	uc010xgx.2	+	12	2083	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	695	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTGCGAGGAGGCCCCTGG	0.612000														67			44		0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100463110	100463110	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:100463110G>A	uc003huw.3	+	8	1286	c.924G>A	c.(922-924)atG>atA	p.M308I	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	308										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GAAATAATATGAAAATACCTG	0.388000														39			18		0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005273	1005273	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:1005273C>T	uc002lqo.1	+	2	1773	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	591					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCGCGCTCTTCCTCACCGTGT	0.667000														72			22		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340447	121340447	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121340447C>T	uc003eeg.2	+	2	381	c.171C>T	c.(169-171)ctC>ctT	p.L57L		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	57					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ACCAGCTCCTCTGCCCTTTAG	0.587000														76			30		0	0	1	0	0
SPANXE	171489	broad.mit.edu	37	X	140786514	140786514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140786514C>T	uc004fbq.3	-	0	142	c.49G>A	c.(49-51)Gat>Aat	p.D17N		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	17						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					TCGTTGGAATCACAGGGGACG	0.502000														44			49		0	0	1	0	0
MIR563	693148	broad.mit.edu	37	3	15915346	15915346	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:15915346C>T	uc021wtp.1	+	0		c.69C>T								Homo sapiens microRNA 563 (MIR563), microRNA.																		CATACGTTTCCCTGGTAGCCA	0.383000														73			36		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42204020	42204020	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:42204020G>A	uc003ose.2	-	15	3612	c.3049C>T	c.(3049-3051)Ccc>Tcc	p.P1017S	TRERF1_uc011duq.1_Missense_Mutation_p.P914S|TRERF1_uc003osb.2_Missense_Mutation_p.P753S|TRERF1_uc003osc.2_Missense_Mutation_p.P753S|TRERF1_uc003osd.2_Missense_Mutation_p.P997S	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	997	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCTCCGTGGGAGCCAGGACG	0.627000														21			6		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12969475	12969475	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12969475G>A	uc002mvm.3	+	11	1416	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	MAST1_uc021upp.1_Missense_Mutation_p.E254K	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	430	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CACCTTCGCCGAGAACCCGTT	0.572000														40			22		0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58118247	58118247	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58118247C>T	uc002qpk.2	+	2	1574	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_Intron	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGGCCTCTTTCGACACAGAAG	0.423000														126			37		0	0	1	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36233574	36233574	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36233574G>A	uc002obg.3	-	7	915	c.606C>T	c.(604-606)tcC>tcT	p.S202S	IGFLR1_uc002obb.3_5'Flank|IGFLR1_uc002obc.3_5'Flank|IGFLR1_uc010xsy.2_5'Flank|IGFLR1_uc002obd.4_5'Flank|IGFLR1_uc010eej.3_Intron|U2AF1L4_uc002obe.3_3'UTR|U2AF1L4_uc002obf.3_Silent_p.S178S|U2AF1L4_uc002obh.1_3'UTR|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank			Q8WU68	U2AF4_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 1-like 4 (U2AF1L4), transcript variant 1, mRNA.	0					RNA splicing|mRNA processing	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTCCTGCCAGGAACATCTGT	0.597000														103			28		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50733833	50733833	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:50733833A>T	uc002egm.1	+	1	613	c.508A>T	c.(508-510)Atc>Ttc	p.I170F	NOD2_uc010cbj.1_Missense_Mutation_p.I143F|NOD2_uc021tia.1_5'UTR|NOD2_uc010cbk.1_Missense_Mutation_p.I143F|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	170	CARD 2.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ATGTGATGAAATCAGGTTGCC	0.552000														45			8		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6897452	6897452	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6897452C>T	uc002mfw.3	+	4	446	c.408C>T	c.(406-408)tgC>tgT	p.C136C	EMR1_uc010dvc.3_Silent_p.C136C|EMR1_uc010dvb.3_Silent_p.C84C|EMR1_uc010xji.2_Intron|EMR1_uc010xjj.2_Silent_p.C136C	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	136	EGF-like 3; calcium-binding (Potential).				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)					TCAATGAGTGCCTCACCAGCA	0.478000														46			25		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212295675	212295675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:212295675C>T	uc002veg.1	-	20	2736	c.2638G>A	c.(2638-2640)Gga>Aga	p.G880R	ERBB4_uc002veh.1_Missense_Mutation_p.G880R|ERBB4_uc010zji.1_Missense_Mutation_p.G870R|ERBB4_uc010zjj.1_Missense_Mutation_p.G870R	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	880	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCCACCTTTCCTCCATCAGCA	0.363000										TSP Lung(8;0.080)				115			48		0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30572209	30572209	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30572209C>T	uc003nqn.1	-	12	1734	c.1182G>A	c.(1180-1182)agG>agA	p.R394R	PPP1R10_uc010jsc.1_Silent_p.R48R	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	394	Essential for PPP1CA inhibition (By similarity).|Necessary for interaction with PPP1CA (By similarity).|Necessary for interaction with PPP1CC.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTTTCCTCTTCCTGCCTTTCC	0.483000														132			57		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48849077	48849077	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:48849077G>A	uc003xqi.3	-	12	1171	c.1114_splice	c.e12-1	p.P372_splice	PRKDC_uc003xqj.3_Splice_Site_p.P372_splice	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	372					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACCTTGCACGGCTTTAGAAAA	0.378000								Non-homologous end-joining						38			18		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78372553	78372553	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:78372553C>T	uc001ozl.4	-	32	7955	c.7492G>A	c.(7492-7494)Gaa>Aaa	p.E2498K	ODZ4_uc001ozk.4_Missense_Mutation_p.E723K	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2498					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TAGGAGGGTTCCATGGCATCC	0.532000														13			9		0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214727255	214727255	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:214727255G>A	uc002veq.3	+	10	1209	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N	SPAG16_uc010fuz.2_Missense_Mutation_p.D224N|SPAG16_uc002ver.3_Missense_Mutation_p.D319N|SPAG16_uc010zjk.2_Missense_Mutation_p.D279N	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	373					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTGTGGCGAGGACCGACTCTG	0.502000														79			31		0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21141196	21141196	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:21141196G>A	uc002ztc.2	+	3	1429	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Missense_Mutation_p.E448K	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	448					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	AGTGAACGAGGAAGGCACCCA	0.547000														115			41		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128324308	128324308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:128324308C>T	uc002top.3	+	4	429	c.376C>T	c.(376-378)Cat>Tat	p.H126Y		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	126	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTACAGCCGCCATATGGGCGA	0.582000														24			7		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98866842	98866842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:98866842G>A	uc002syo.3	+	19	2999	c.2735G>A	c.(2734-2736)gGa>gAa	p.G912E	VWA3B_uc002sym.3_Missense_Mutation_p.G912E|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.G569E|VWA3B_uc002syp.1_Missense_Mutation_p.G304E|VWA3B_uc002syq.1_Missense_Mutation_p.G188E|VWA3B_uc002syr.1_Missense_Mutation_p.G229E|VWA3B_uc010fii.1_Non-coding_Transcript|VWA3B_uc002sys.3_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	912										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AACCCCCAAGGAGCCAAACTC	0.408000														86			30		0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35545003	35545003	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:35545003C>T	uc011dte.1	-	9	1237	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	FKBP5_uc003okx.2_Missense_Mutation_p.G345E|FKBP5_uc011dtf.1_Missense_Mutation_p.G166E|FKBP5_uc003oky.2_Missense_Mutation_p.G345E	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	345					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						ACTGTCCAGTCCAAGGGCCTA	0.433000														174			51		0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51770760	51770760	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:51770760C>T	uc001csl.3	-	7	860	c.755G>A	c.(754-756)gGa>gAa	p.G252E	TTC39A_uc001csk.3_Missense_Mutation_p.G217E|TTC39A_uc010ond.2_Missense_Mutation_p.G189E|TTC39A_uc010one.2_Missense_Mutation_p.G216E|TTC39A_uc010onf.2_Missense_Mutation_p.G220E|TTC39A_uc001csn.3_Missense_Mutation_p.G251E|TTC39A_uc001cso.1_Missense_Mutation_p.G248E|TTC39A_uc009vyy.1_Missense_Mutation_p.G189E	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	252							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TACCTTGTTTCCTGAAAACCC	0.582000														48			20		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48603616	48603616	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48603616G>A	uc010wmr.2	+	13	2448	c.2286G>A	c.(2284-2286)gaG>gaA	p.E762E	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	725					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	p.L761L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TCTGCTTGGAGGACTTCAGAA	0.577000														153			19		0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35928300	35928300	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:35928300G>A	uc001byx.3	-	7	1474	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	KIAA0319L_uc010ohv.1_Missense_Mutation_p.R48W|KIAA0319L_uc010ohw.2_Non-coding_Transcript	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	406						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGGGGGGCCGATTCTTACGG	0.448000														64			23		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97990571	97990571	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:97990571C>T	uc001kls.4	-	3	361	c.183G>A	c.(181-183)gaG>gaA	p.E61E	BLNK_uc001kme.4_Intron|BLNK_uc001klt.4_Intron|BLNK_uc009xvc.3_Intron|BLNK_uc001klu.4_5'UTR|BLNK_uc001klv.4_Silent_p.E61E|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Silent_p.E61E|BLNK_uc001kly.4_Silent_p.E61E|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Silent_p.E61E|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_5'UTR|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	61					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		ACCACTGCTCCTCTTCGTCAG	0.542000														13			4		0	0	1	0	0
BGN	633	broad.mit.edu	37	X	152770723	152770723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:152770723C>T	uc004fhr.2	+	2	502	c.266C>T	c.(265-267)tCc>tTc	p.S89F		NM_001711	NP_001702	P21810	PGS1_HUMAN	Homo sapiens biglycan (BGN), mRNA.	89						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAAGAGATCTCCCCTGACACC	0.597000														27			34		0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41558063	41558063	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:41558063C>T	uc003oql.3	+	11	1870	c.1412C>T	c.(1411-1413)aCc>aTc	p.T471I	FOXP4_uc003oqm.3_Missense_Mutation_p.T469I|FOXP4_uc003oqn.3_Missense_Mutation_p.T458I	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	471					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCCCCCTTCACCTACGCCTCC	0.647000														120			42		0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58978287	58978287	+	Silent	SNP	C	T	T	rs144610063		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:58978287C>T	uc001nnu.4	-	0	2208	c.2052G>A	c.(2050-2052)aaG>aaA	p.K684K		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	684						integral to membrane		p.K684K(2)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GATATGCTTTCTTCTTGAACT	0.542000														84			28		0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130984529	130984529	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130984529G>A	uc022bob.1	+	6	990	c.903G>A	c.(901-903)caG>caA	p.Q301Q	DNM1_uc022bnx.1_Silent_p.Q301Q|DNM1_uc022bny.1_Silent_p.Q301Q|DNM1_uc022bnz.1_Silent_p.Q301Q|DNM1_uc022boa.1_Silent_p.Q301Q	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	301					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						ACAAGCTGCAGAGCCAGCTAC	0.597000														90			26		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698359	169698359	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169698359C>T	uc001ggm.4	-	6	1215	c.1058G>A	c.(1057-1059)gGg>gAg	p.G353E	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	353	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGTCCACTGCCCTTGAGTGGT	0.463000														56			26		0	0	1	0	0
RAX	30062	broad.mit.edu	37	18	56939653	56939653	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:56939653C>T	uc002lhx.3	-	1	670	c.483G>A	c.(481-483)ccG>ccA	p.P161P	RAX_uc010dpp.3_Intron	NM_013435	NP_038463	Q9Y2V3	RX_HUMAN	Homo sapiens retina and anterior neural fold homeobox (RAX), mRNA.	161					visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		TGTACACGTCCGGGTAGTGGG	0.622000														51			34		0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420022	56420022	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:56420022G>A	uc002rzn.3	+	1	1189	c.687G>A	c.(685-687)gcG>gcA	p.A229A	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	229	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCACCACGCGAGCAGTGGCA	0.682000														45			20		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8130986	8130986	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8130986G>A	uc002mjf.3	-	62	8264	c.8247C>T	c.(8245-8247)ttC>ttT	p.F2749F	FBN3_uc002mje.3_Silent_p.F545F	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2749						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCATGCGAAAGAAACCTTGCT	0.692000														101			31		0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817655	7817655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7817655G>A	uc001mfp.1	-	0	835	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCAACATGGGAATCACCACT	0.438000														107			30		0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	67017891	67017891	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67017891C>T	uc001ojw.3	+	16	3254	c.2390C>T	c.(2389-2391)tCg>tTg	p.S797L	KDM2A_uc001ojx.3_Intron|KDM2A_uc001ojy.3_Missense_Mutation_p.S491L|KDM2A_uc010rpn.2_Missense_Mutation_p.S358L|KDM2A_uc001ojz.1_Missense_Mutation_p.S255L|KDM2A_uc001oka.3_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ATCCGGGGATCGTACCTCACT	0.587000														75			28		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930755	46930755	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:46930755C>T	uc003gxg.3	-	8	2135	c.1152G>A	c.(1150-1152)ttG>ttA	p.L384L	GABRA4_uc021xnz.1_Silent_p.L365L|GABRA4_uc021xoa.1_Silent_p.L314L	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	384					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			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCTCATGTTCAAATTGGCAT	0.318000														43			16		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25399814	25399814	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25399814G>A	uc001upr.3	+	15	2190	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	RNF17_uc010tdd.1_Missense_Mutation_p.E576K|RNF17_uc010tde.2_Missense_Mutation_p.E717K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E656K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	717					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)		CTATAAAAGTGAAGATGGAGA	0.358000														100			36		0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258156	56258156	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56258156C>T	uc001nix.1	-	0	691	c.691G>A	c.(691-693)Gag>Aag	p.E231K	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGCCTGCCCTCTGTAGAGCGA	0.408000														89			11		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73682332	73682332	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:73682332C>T	uc002sje.1	+	8	7692	c.7581C>T	c.(7579-7581)tcC>tcT	p.S2527S	ALMS1_uc002sjf.1_Silent_p.S2485S|ALMS1_uc002sjg.3_Silent_p.S1915S|ALMS1_uc002sjh.1_Silent_p.S1915S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2527					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTGGATACTCCATTTCAGAAT	0.358000														131			16		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61262370	61262370	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61262370C>T	uc010xep.2	+	6	918	c.750C>T	c.(748-750)gaC>gaT	p.D250D	SERPINB13_uc002ljc.3_Silent_p.D241D|SERPINB13_uc002ljd.3_Silent_p.D105D|SERPINB13_uc010xeq.2_Silent_p.D62D|SERPINB13_uc010xer.2_Silent_p.D62D	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	241					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.N250N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AAAACAACGACCTAAGCATGT	0.428000														108			41		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091567	9091567	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9091567G>A	uc002mkp.3	-	0	452	c.248C>T	c.(247-249)tCc>tTc	p.S83F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	83	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						GAGAGCAGAGGACATCACCCC	0.532000														87			32		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179732833	179732833	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179732833C>T	uc002une.2	-	15	2612	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	CCDC141_uc002unf.1_Missense_Mutation_p.E311K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	257							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTTGCTTTTCCTGAGAGCAC	0.517000														64			26		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3888393	3888393	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:3888393G>A	uc003bpt.4	+	1	2829	c.2068G>A	c.(2068-2070)Ggt>Agt	p.G690S	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.G690S	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	690						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCTCTGGGAAGGTGACAGCGA	0.423000														38			25		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27151149	27151149	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27151149G>A	uc002rhu.4	+	4	785	c.627G>A	c.(625-627)ggG>ggA	p.G209G	DPYSL5_uc002rhv.4_Silent_p.G209G|DPYSL5_uc021vev.1_Silent_p.G209G	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	209					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGATTTGGGGATCACAGGCC	0.478000														36			11		0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36402445	36402445	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:36402445C>T	uc001uvf.3	-	9	1513	c.1230_splice	c.e9-1	p.R410_splice	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Splice_Site_p.R103_splice|DCLK1_uc010teh.2_Splice_Site_p.R103_splice|DCLK1_uc010abk.3_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	410	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AGCAGTCGATCTGCGAAGAGA	0.323000														29			15		0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140043562	140043562	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140043562G>A	uc004clk.3	+	4	1001	c.671_splice	c.e4+1	p.S224_splice	GRIN1_uc004cli.1_Splice_Site|GRIN1_uc004clj.1_Splice_Site_p.S221_splice|GRIN1_uc004cln.3_Splice_Site_p.S245_splice|GRIN1_uc004clo.3_Splice_Site_p.S245_splice|GRIN1_uc004clm.3_Splice_Site_p.S224_splice|GRIN1_uc004cll.3_Splice_Site_p.S224_splice	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	224					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TTTCTGCCAGGTGAGGCTGGG	0.602000														9			7		0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68597784	68597784	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:68597784C>T	uc010cff.3	+	4	1386	c.1094C>T	c.(1093-1095)cCc>cTc	p.P365L	ZFP90_uc002ewb.3_Missense_Mutation_p.P171S|ZFP90_uc002ewc.3_Missense_Mutation_p.P171S|ZFP90_uc002ewd.3_Missense_Mutation_p.P365L|ZFP90_uc002ewe.3_Missense_Mutation_p.P365L	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	365					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GGAGAGAAGCCCTTCCAGTGT	0.473000														46			13		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126224649	126224649	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:126224649G>A	uc010hsi.2	-	7	762	c.708C>T	c.(706-708)atC>atT	p.I236I	UROC1_uc003eiz.2_Silent_p.I236I	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	236					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCAAGTCCTCGATGCCCAGGT	0.647000														41			15		0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102334726	102334726	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:102334726G>A	uc004eju.3	-	12	1196	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	NXF3_uc010noi.1_Silent_p.S225S	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	375	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GAATGCTCAGGGAGAAGCAGG	0.547000														39			47		0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9483820	9483820	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:9483820C>T	uc003brt.3	+	9	1403	c.968C>T	c.(967-969)cCc>cTc	p.P323L	SETD5_uc003brs.1_Missense_Mutation_p.P304L|SETD5_uc003bru.3_Missense_Mutation_p.P225L|SETD5_uc003brv.3_Missense_Mutation_p.P212L|SETD5_uc010hck.3_5'UTR|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.3_5'Flank	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	323	SET.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGACCATACCCCTTTGTGCTC	0.418000														20			7		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8807884	8807884	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8807884G>A	uc002mkl.2	-	0	1289	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	390						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						AAGGCGCGCAGGGAGGCCAGG	0.647000														50			22		0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96992898	96992898	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:96992898C>T	uc002svy.3	+	0	964	c.553C>T	c.(553-555)Caa>Taa	p.Q185*	ITPRIPL1_uc002svx.3_Nonsense_Mutation_p.Q177*|ITPRIPL1_uc010yuk.2_Nonsense_Mutation_p.Q169*|ITPRIPL1_uc010yul.2_Nonsense_Mutation_p.Q169*	NM_178495	NP_001156996	Q6GPH6	IPIL1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 1 (ITPRIPL1), transcript variant 1, mRNA.	177						integral to membrane		p.V184F(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACACTATGTCCAAAATGCCAT	0.547000														129			49		0	0	1	0	0
ADAM8	101	broad.mit.edu	37	10	135086808	135086808	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:135086808C>T	uc021qbe.1	-	5	609	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	ADAM8_uc009ybi.3_Missense_Mutation_p.G175S|ADAM8_uc010qva.2_Missense_Mutation_p.G136S|ADAM8_uc010qvb.1_Missense_Mutation_p.G150S|ADAM8_uc009ybj.2_Non-coding_Transcript	NM_001109	NP_001100	B4DVM6	B4DVM6_HUMAN	Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.	136					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	p.G175G(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		AGGAGGCTGCCCAGGCTGTCG	0.711000														5			3		0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135413078	135413078	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135413078G>A	uc004cbn.3	+	4	771	c.723G>A	c.(721-723)ctG>ctA	p.L241L	C9orf171_uc004cbo.3_Silent_p.L205L	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	241										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CCATCAAACTGGAGAAGAAGC	0.557000														77			28		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29642576	29642577	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:29642576_29642577CC>TT	uc001bru.3	+	24	3585_3586	c.3456_3457CC>TT	c.(3454-3459)atccct>atTTct	p.P1153S	PTPRU_uc009vtq.3_Missense_Mutation_p.P1149S|PTPRU_uc009vtr.3_Missense_Mutation_p.P1140S|PTPRU_uc001brw.3_Missense_Mutation_p.P1143S	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	1153					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AGACCACCATCCCTGTCAGTGA	0.554000														59			17		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16859997	16859997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16859997G>A	uc002neu.4	+	5	966	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	NWD1_uc002net.4_Missense_Mutation_p.E47K|NWD1_uc002nev.4_5'UTR|NWD1_uc021uqg.1_Missense_Mutation_p.E47K	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	182							ATP binding	p.E182K(1)		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						AGAGGACCGGGAACAGGGAGC	0.572000														48			19		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5724456	5724456	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:5724456C>T	uc001qnm.2	-	17	1896	c.1824G>A	c.(1822-1824)ccG>ccA	p.P608P		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	613						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.E607E(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GTTCTGTTTTCGGAACCTCTG	0.458000														26			8		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28348673	28348673	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:28348673C>T	uc001iua.1	-	16	1609	c.1205_splice	c.e16-1	p.H402_splice	MPP7_uc009xkz.1_Splice_Site|MPP7_uc001iub.1_Splice_Site_p.H402_splice|MPP7_uc009xla.2_Splice_Site_p.H402_splice|MPP7_uc010qdv.1_Splice_Site	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	402	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTGGTGGTATCTATGATTTAA	0.338000														71			23		0	0	1	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839863	27839863	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:27839863C>T	uc003njy.3	-	0	237	c.231G>A	c.(229-231)caG>caA	p.Q77Q		NM_003533	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3i (HIST1H3I), mRNA.	77					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCTTAAAGTCCTGTGCGATCT	0.612000														128			19		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36122827	36122827	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:36122827T>A	uc003gsq.2	-	22	4206	c.3868A>T	c.(3868-3870)Att>Ttt	p.I1290F		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1290	Rho-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						TAATTATTAATTAGGTCCTCA	0.323000														61			17		0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92798992	92798992	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:92798992G>A	uc001dot.2	+	8	1609	c.1500G>A	c.(1498-1500)caG>caA	p.Q500Q	RPAP2_uc009wdh.2_Non-coding_Transcript	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	Homo sapiens RNA polymerase II associated protein 2 (RPAP2), mRNA.	500						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CCCAGAACCAGATTAGAAAAC	0.328000														78			14		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124596525	124596525	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124596525G>A	uc001lgs.3	-	6	1590	c.639C>T	c.(637-639)gcC>gcT	p.A213A	CUZD1_uc001lgp.3_5'UTR|CUZD1_uc009yad.3_5'UTR|CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_5'UTR|CUZD1_uc010qty.2_Intron|CUZD1_uc009yae.3_Intron|CUZD1_uc010qtz.2_Silent_p.A213A	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	213	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CATCATAGATGGCAAGAAAAT	0.443000														46			17		0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21588586	21588586	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:21588586C>T	uc002npw.3	+	2	300	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	ZNF493_uc002npu.3_Silent_p.L62L|ZNF493_uc002npx.3_Intron|ZNF493_uc002npy.3_5'UTR	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G60C(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TAAGCCAGATCTGGTCACCTG	0.408000														91			42		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56950108	56950108	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56950108G>A	uc001njl.2	+	0	888	c.741G>A	c.(739-741)atG>atA	p.M247I		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	217	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GCTGCACCATGGAACCCCTGC	0.632000														102			38		0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43959657	43959657	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43959657A>T	uc002zbj.3	+	5	1368	c.386A>T	c.(385-387)tAc>tTc	p.Y129F	SLC37A1_uc002zbi.3_Missense_Mutation_p.Y129F	NM_018964	NP_061837	P57057	GLPT_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 1 (SLC37A1), mRNA.	129					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						ATTAGGTATTACCTAACTTTC	0.507000														75			23		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451179	138451179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:138451179C>T	uc003ihe.4	-	0	2451	c.2064G>A	c.(2062-2064)atG>atA	p.M688I	PCDH18_uc003ihf.4_Missense_Mutation_p.M681I|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.M468I|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	688	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTACTGAAGTCATTGCTGTAC	0.408000														170			70		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38822908	38822908	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38822908C>T	uc003avs.1	-	1	1327	c.1230G>A	c.(1228-1230)gaG>gaA	p.E410E	KCNJ4_uc003avt.1_Silent_p.E410E|KCNJ4_uc021wpp.1_Silent_p.E410E	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	410					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity	p.E409E(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGATGCCCGCCTCCTCCTTGG	0.677000														116			46		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027420	9027420	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:9027420C>T	uc003brf.1	-	21	3759	c.3083G>A	c.(3082-3084)aGc>aAc	p.S1028N	SRGAP3_uc003brg.1_Missense_Mutation_p.S1004N	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	1028					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.R1027L(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGAGCTGCTGCTGCGGCGCAT	0.726000			T	RAF1	pilocytic astrocytoma									41			28		0	0	1	0	0
ZNF192	7745	broad.mit.edu	37	6	28121693	28121693	+	Silent	SNP	C	T	T	rs62638669	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28121693C>T	uc003nkn.1	+	5	1819	c.1635C>T	c.(1633-1635)ccC>ccT	p.P545P	ZNF192_uc010jqx.1_Silent_p.P545P|ZNF192_uc010jqy.1_Silent_p.P358P|ZNF192_uc011dkz.1_Silent_p.P358P	NM_006298	NP_006289	Q15776	ZN192_HUMAN	Homo sapiens zinc finger protein 192 (ZNF192), mRNA.	545					viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGGAGAAGCCCTACCAATGTA	0.423000														103			17		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248437015	248437015	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248437015C>T	uc010pzi.2	-	0	102	c.102G>A	c.(100-102)ttG>ttA	p.L34L		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V33I(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			ACAGGGAGGTCAAAACGATAC	0.493000														90			24		0	0	1	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19362866	19362866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:19362866C>T	uc011kyn.2	-	3	1544	c.480G>A	c.(478-480)gaG>gaA	p.E160E	CSGALNACT1_uc011kyo.2_Silent_p.E160E|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Silent_p.E160E|CSGALNACT1_uc003wzh.2_Non-coding_Transcript	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	160					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TAAGGCCAGTCTCCAGCTGGT	0.557000														37			29		0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160802361	160802361	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160802361C>T	uc009wtq.3	-	7	1205	c.980G>A	c.(979-981)gGa>gAa	p.G327E	CD244_uc001fxa.3_Missense_Mutation_p.G322E|CD244_uc009wtr.3_Missense_Mutation_p.G230E|CD244_uc009wtp.3_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	327					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTTCCTGGATCCAGACTAGAA	0.458000														57			24		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202461	140202461	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140202461C>T	uc003lhl.2	+	0	1101	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V	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_uc003lhk.1_Silent_p.V367V|PCDHAC2_uc003lhj.1_Silent_p.V367V	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	383					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)			TCAGCACGGTCATTGCTCTGA	0.537000														93			53		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153897363	153897363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:153897363C>T	uc003inf.2	+	10	2995	c.2920C>T	c.(2920-2922)Ccc>Tcc	p.P974S		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	974					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GAGGGACGTTCCCCTGCAGCC	0.662000														32			16		0	0	1	0	0
C6orf195	154386	broad.mit.edu	37	6	2624022	2624022	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:2624022G>A	uc003mtw.2	-	2	1020	c.35C>T	c.(34-36)cCc>cTc	p.P12L	C6orf195_uc021ykp.1_Missense_Mutation_p.P12L	NM_152554	NP_689767	Q96MT4	CF195_HUMAN	Homo sapiens chromosome 6 open reading frame 195 (C6orf195), mRNA.	12										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CTGCTTCCAGGGAATGTTCCT	0.507000														53			13		0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725215	87725215	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:87725215C>T	uc003pli.3	+	1	866	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	HTR1E_uc021zcg.1_Nonsense_Mutation_p.Q55*	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	55					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GAAGCTCCACCAGCCTGCCAA	0.542000														44			25		0	0	1	0	0
SH3BP5	9467	broad.mit.edu	37	3	15303785	15303785	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:15303785C>T	uc003bzp.1	-	4	696	c.507G>A	c.(505-507)gcG>gcA	p.A169A	SH3BP5_uc003bzq.1_Silent_p.A12A|SH3BP5_uc003bzr.1_Silent_p.A12A|AL133111_uc003bzo.1_Intron	NM_004844	NP_001018009	O60239	3BP5_HUMAN	Homo sapiens SH3-domain binding protein 5 (BTK-associated) (SH3BP5), transcript variant 1, mRNA.	169					intracellular signal transduction	mitochondrion	SH3 domain binding|protein kinase inhibitor activity			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						TGGTCTGCTCCGCCTCCATGA	0.498000														57			18		0	0	1	0	0
NRM	11270	broad.mit.edu	37	6	30658642	30658642	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30658642C>T	uc003nrc.3	-	0	417	c.110G>A	c.(109-111)gGg>gAg	p.G37E	PPP1R18_uc003nrb.4_5'Flank|NRM_uc003nre.3_5'UTR	NM_007243	NP_009174	Q8IXM6	NRM_HUMAN	Homo sapiens nurim (nuclear envelope membrane protein) (NRM), mRNA.	37						integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						CTCCGGGATCCCTCCAAGAAG	0.632000														164			35		0	0	1	0	0
MST4	51765	broad.mit.edu	37	X	131202542	131202542	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:131202542G>A	uc004ewk.1	+	5	843	c.542G>A	c.(541-543)gGa>gAa	p.G181E	MST4_uc004ewl.1_Missense_Mutation_p.G104E|MST4_uc011mux.1_Missense_Mutation_p.G203E|MST4_uc010nrj.1_Missense_Mutation_p.G181E|MST4_uc004ewm.1_Missense_Mutation_p.G181E	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	181	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ACCTTTGTGGGAACTCCATTT	0.378000														53			31		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155450702	155450702	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:155450702C>T	uc003qqb.3	+	5	1618	c.345C>T	c.(343-345)ggC>ggT	p.G115G	TIAM2_uc003qqe.3_Silent_p.G115G	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	115					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGAGAATGGCTTCCACTCTG	0.542000														19			17		0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122075732	122075732	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:122075732C>T	uc021xrj.1	-	7	776	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	TNIP3_uc010ing.3_Missense_Mutation_p.E156K|TNIP3_uc011cgj.2_Missense_Mutation_p.E226K|TNIP3_uc010ini.3_Missense_Mutation_p.E156K	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	156										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						ATTTCACATTCGTAATGTTCC	0.358000														73			29		0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7705860	7705860	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7705860C>T	uc010xjr.2	+	5	478	c.433C>T	c.(433-435)Cac>Tac	p.H145Y	STXBP2_uc002mha.4_Missense_Mutation_p.H134Y|STXBP2_uc002mhb.4_Missense_Mutation_p.H131Y|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc010dvl.2_Missense_Mutation_p.H295Y	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	134					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAAGGAGATTCACCTTGCCTT	0.627000														59			36		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106692098	106692098	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106692098G>A	uc021ser.1	-	1154		c.24988C>T								Parts of antibodies, mostly variable regions.																		TAGCAACAAGGAAAACCCAGC	0.483000														167			60		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80714267	80714267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:80714267G>A	uc001szd.3	+	32	3847	c.3841G>A	c.(3841-3843)Gat>Aat	p.D1281N		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CCATGACAATGATACTCTTAG	0.448000														38			9		0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101624234	101624234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:101624234C>T	uc003yjr.3	-	6	756	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	SNX31_uc011lha.2_5'UTR|SNX31_uc011lhb.2_Missense_Mutation_p.R103Q	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	202					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTACCACTTTCGGAGTCCAAC	0.468000														75			16		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52356612	52356612	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52356612C>T	uc011bef.2	+	1	415	c.154C>T	c.(154-156)Cct>Tct	p.P52S	DNAH1_uc003ddt.1_Missense_Mutation_p.P52S	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	52	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTTGGGAAATCCTCCAGCCCT	0.607000														54			17		0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21557827	21557827	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:21557827G>A	uc009zzs.3	-	4	2383	c.2018C>T	c.(2017-2019)aCc>aTc	p.T673I	LATS2_uc001unr.4_Missense_Mutation_p.T673I	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	673	Protein kinase.				G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GATCCCCAGGGTTTTGATCTT	0.488000														110			45		0	0	1	0	0
KLRC1	3821	broad.mit.edu	37	12	10603085	10603085	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10603085G>A	uc001qyl.3	-	2	495	c.281C>T	c.(280-282)cCc>cTc	p.P94L	KLRC1_uc009zhm.2_Missense_Mutation_p.P94L|KLRC1_uc001qym.3_Missense_Mutation_p.P94L|KLRC1_uc001qyn.3_Missense_Mutation_p.P94L|KLRC1_uc001qyo.3_Missense_Mutation_p.P94L	NM_002259	NP_998823	P26715	NKG2A_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA.	94					cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						AGACTTACAGGGAATAACAAC	0.383000														100			25		0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045401	142045401	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142045401C>T	uc003vxp.4	+	0	148	c.39C>T	c.(37-39)ctC>ctT	p.L13L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TTCTCTGTCTCCTGGGAGCGG	0.572000														151			50		0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150932029	150932029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:150932029G>A	uc003eyr.1	-	2	554	c.76C>T	c.(76-78)Cct>Tct	p.P26S	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.P26S|P2RY14_uc021xfz.1_Missense_Mutation_p.P26S	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	26						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TACAGCACAGGAATGATCTGC	0.458000														107			35		0	0	1	0	0
ANP32C	23520	broad.mit.edu	37	4	165118395	165118395	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:165118395C>T	uc011cjk.2	-	0	469	c.469G>A	c.(469-471)Gag>Aag	p.E157K	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	157	Asp/Glu-rich (highly acidic).									NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		ACGTGGTCCTCAATATCTGAG	0.537000														61			30		0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51043813	51043813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:51043813C>T	uc003bmx.3	+	6	1897	c.1780C>T	c.(1780-1782)Ctt>Ttt	p.L594F	MAPK8IP2_uc003bmy.3_Missense_Mutation_p.L567F|MAPK8IP2_uc011asc.2_5'UTR	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	595					MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTCCTTTGGCCTTTTCTCCTG	0.647000														38			6		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176934326	176934326	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176934326C>T	uc001glc.3	-	8	1783	c.1571G>A	c.(1570-1572)gGa>gAa	p.G524E	ASTN1_uc001glb.1_Missense_Mutation_p.G524E|ASTN1_uc001gld.1_Missense_Mutation_p.G524E|ASTN1_uc009wwx.1_Missense_Mutation_p.G524E	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	532					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGGCTGCTCTCCCAAAACCAG	0.418000														95			33		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159778902	159778902	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159778902G>A	uc001fud.4	+	3	513	c.471G>A	c.(469-471)caG>caA	p.Q157Q	FCRL6_uc010pix.1_3'UTR|FCRL6_uc001fuc.2_Silent_p.Q164Q|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.3_Silent_p.Q157Q	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	157	Ig-like C2-type 2.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					ACACCTTGCAGGACAGGGGCC	0.617000														65			15		0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156247733	156247733	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156247733T>A	uc001foc.4	-	2	429	c.280A>T	c.(280-282)Atc>Ttc	p.I94F		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	94					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTAGTCTTGATAAGCTGGATA	0.483000														201			77		0	0	1	0	0
HIGD2B	123346	broad.mit.edu	37	15	72968724	72968724	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72968724C>T	uc002ava.3	-	2		c.516G>A								Homo sapiens HIG1 hypoxia inducible domain family, member 2B (HIGD2B), non-coding RNA.																		ATGCCTAGGCCACAGCTGCAG	0.522000														25			6		0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19838896	19838896	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:19838896G>A	uc002zqg.3	-	1	1488	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S	GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.3_Missense_Mutation_p.P297S|C22orf29_uc002zqi.3_Missense_Mutation_p.P297S|C22orf29_uc021wli.1_Missense_Mutation_p.P297S	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	Homo sapiens chromosome 22 open reading frame 29 (C22orf29), mRNA.	297	Pro-rich.									NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					ACAGGTGTGGGGGCTGCCTCC	0.612000														37			22		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56345178	56345178	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56345178G>A	uc002ivt.3	+	12	2278	c.1962G>A	c.(1960-1962)acG>acA	p.T654T	LPO_uc010wns.2_Silent_p.T595T|LPO_uc010dcp.3_Silent_p.T571T|LPO_uc010dcq.3_Silent_p.T325T|LPO_uc010dcr.3_Silent_p.T217T	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	654					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGGTCTTCACGAACGAGCAGA	0.572000														50			21		0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56350260	56350260	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56350260G>A	uc002ivu.1	-	9	1818	c.1641C>T	c.(1639-1641)ctC>ctT	p.L547L		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	547					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	p.L547P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TGAGGCCCCGGAGGATGGGGT	0.572000														182			59		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350329	100350329	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100350329C>T	uc003uwj.3	+	13	2766	c.2601C>T	c.(2599-2601)tcC>tcT	p.S867S	ZAN_uc003uwk.3_Silent_p.S867S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	867	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACCATCTCCCCAGAAAAAC	0.483000														116			42		0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48800332	48800332	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:48800332C>T	uc002pir.2	-	13	2597	c.1914G>A	c.(1912-1914)tcG>tcA	p.S638S	CCDC114_uc002piq.2_Silent_p.S447S|CCDC114_uc002pio.3_3'UTR	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	638	Ser-rich.									cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GGCCTCCGCTCGAATCAGACG	0.672000														140			11		0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12496026	12496026	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:12496026C>T	uc001rai.1	-	2	481	c.223_splice	c.e2+1	p.G75_splice	MANSC1_uc001raj.1_Splice_Site_p.G41_splice	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	75	MANSC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CACTATTTACCTGATATGTTT	0.418000														78			37		0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86537848	86537848	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:86537848C>T	uc011kha.2	-	16	2556	c.2371G>A	c.(2371-2373)Gaa>Aaa	p.E791K	KIAA1324L_uc003uie.3_Missense_Mutation_p.E624K|KIAA1324L_uc011kgz.2_Missense_Mutation_p.E677K|KIAA1324L_uc003uif.2_Missense_Mutation_p.E543K	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	791						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AATGTGGTTTCAACTGTGACT	0.289000														63			34		0	0	1	0	0
NUP62CL	54830	broad.mit.edu	37	X	106396730	106396730	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:106396730G>A	uc004ena.3	-	5	608	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	NUP62CL_uc004enb.3_Non-coding_Transcript	NM_017681	NP_060151	Q9H1M0	N62CL_HUMAN	Homo sapiens nucleoporin 62kDa C-terminal like (NUP62CL), transcript variant 1, mRNA.	117					protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						TGTAAAATACGAATCTATAAA	0.259000														13			18		0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151671950	151671950	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:151671950G>A	uc011eep.2	+	3	2664	c.2424G>A	c.(2422-2424)aaG>aaA	p.K808K	AKAP12_uc003qoe.3_Silent_p.K808K|AKAP12_uc003qof.3_Silent_p.K710K|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Silent_p.K703K	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	808	AKAP 3.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TCTCAATCAAGAAGTTTATTC	0.498000														68			37		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916456	42916457	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42916456_42916457CC>TT	uc003cmh.3	-	0	1177_1178	c.852_853GG>AA	c.(850-855)cagggg>caAAgg	p.G285R	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	285					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	p.G285E(1)		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)		CCCGTGTTCCCCTGGGAGGCCC	0.579000														17			8		0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42161469	42161469	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42161469G>A	uc002xkn.1	+	4	479	c.348G>A	c.(346-348)atG>atA	p.M116I	L3MBTL1_uc010zwh.2_Missense_Mutation_p.M425I|L3MBTL1_uc002xkm.3_Missense_Mutation_p.M357I|L3MBTL1_uc010ggl.3_Missense_Mutation_p.M357I|L3MBTL1_uc002xkl.3_Missense_Mutation_p.M357I|L3MBTL1_uc002xko.3_Missense_Mutation_p.M9I	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	357					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			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TTGACCGCATGAACCCGTCCC	0.587000														212			17		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703723	4703723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4703723G>A	uc001lzk.2	-	1	463	c.219C>T	c.(217-219)tcC>tcT	p.S73S	OR51E2_uc021qcr.1_Silent_p.S73S	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S73F(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGTGGATGTGGATAAGGCCA	0.502000														70			24		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103898452	103898452	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:103898452C>T	uc001kum.3	+	2	458	c.419C>T	c.(418-420)tCt>tTt	p.S140F	PPRC1_uc001kun.3_Intron|PPRC1_uc010qqj.2_Missense_Mutation_p.S140F|PPRC1_uc009xxa.3_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AATGCAGATTCTGAGAACCTT	0.532000														54			25		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29754972	29754972	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29754972G>A	uc002rmy.3	-	3	1915	c.963C>T	c.(961-963)ctC>ctT	p.L321L		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	321	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TGTTGAGAAGGAGAAAGGAGC	0.537000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					36			13		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241700753	241700753	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241700753A>C	uc010fzk.3	-	23	2405	c.2158T>G	c.(2158-2160)Ttc>Gtc	p.F720V	KIF1A_uc002vzy.3_Missense_Mutation_p.F711V|KIF1A_uc002vzz.2_Missense_Mutation_p.F720V	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	711					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CACTTCCGGAAGGCCCAGAGC	0.622000														46			23		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130831552	130831552	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:130831552G>A	uc001uik.3	+	5	869	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	PIWIL1_uc001uij.2_Missense_Mutation_p.E200K	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	200					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTTAACAAATGAACTTCCACC	0.353000														66			8		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37325463	37325463	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37325463G>A	uc003aqa.4	+	4	628	c.411G>A	c.(409-411)agG>agA	p.R137R	CSF2RB_uc003aqc.4_Silent_p.R137R	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	137	Fibronectin type-III 1.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CTGAGCCCAGGGACCTGCAGA	0.642000														143			52		0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56650809	56650809	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56650809G>A	uc001skm.4	-	3	341	c.251C>T	c.(250-252)tCc>tTc	p.S84F	ANKRD52_uc001skn.1_Non-coding_Transcript	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	84							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CTCGTTTCGGGAGGCAGCAGC	0.498000														34			4		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22171710	22171710	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22171710C>T	uc021urr.1	-	2	153	c.4_splice	c.e2-1	p.G2_splice	ZNF208_uc002nqo.1_Splice_Site_p.G2_splice|ZNF208_uc002nqq.3_Splice_Site	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)				TGTCAATGATCCCTGGAAAAC	0.403000														156			52		0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9971349	9971349	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9971349C>T	uc002mmp.3	-	1	213	c.185G>A	c.(184-186)aGt>aAt	p.S62N		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	62						extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CAGCTCCCGACTCCTGCCATC	0.632000														11			3		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166900519	166900519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166900519C>T	uc002udo.4	-	12	1930	c.1703G>A	c.(1702-1704)cGa>cAa	p.R568Q	SCN1A_uc010fpk.3_Missense_Mutation_p.R568Q|SCN1A_uc021vsb.1_Missense_Mutation_p.R568Q	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	568						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTGCTATTTCGCCTTGGTGA	0.418000														63			30		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423438	107423438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107423438C>T	uc003ver.2	-	9	1431	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	SLC26A3_uc003ves.2_Missense_Mutation_p.G372E	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	407					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TGTTTTGCCTCCTGTGCTCTC	0.468000														83			40		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233925273	233925273	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233925273C>T	uc010zmo.2	+	0	238	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F	INPP5D_uc010zmp.2_Missense_Mutation_p.L29F	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	29	SH2.				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	p.F28L(1)		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)		CGGGAGCTTCCTCGTGCGTGC	0.642000														32			12		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30898886	30898886	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:30898886C>T	uc003tbt.3	+	12	1768	c.1691C>T	c.(1690-1692)cCc>cTc	p.P564L	FAM188B_uc010kwe.3_Missense_Mutation_p.P535L|FAM188B_uc011kac.1_5'UTR|FAM188B_uc003tbu.3_Missense_Mutation_p.P84L	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	564										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAAGTGGGCCCCTATGGCTGC	0.592000														86			13		0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205306568	205306568	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205306568G>A	uc001hcf.1	-	5	1580	c.1012C>T	c.(1012-1014)Ctg>Ttg	p.L338L	KLHDC8A_uc010prg.1_Silent_p.L225L|KLHDC8A_uc001hcg.1_Silent_p.L338L	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	338										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCGTCACTCAGACCCTGGTTG	0.577000														112			32		0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990959	39990959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:39990959C>T	uc002xjy.1	-	3	1474	c.1250G>A	c.(1249-1251)gGg>gAg	p.G417E		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	417						proteinaceous extracellular matrix		p.A416A(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				AAGCTCATCCCCGGCCGGGGC	0.642000														106			7		0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45361850	45361850	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:45361850G>A	uc002ilj.3	+	3	423	c.403G>A	c.(403-405)Gat>Aat	p.D135N	ITGB3_uc002ili.1_Missense_Mutation_p.D135N|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	135	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GCAGGTGGAGGATTACCCTGT	0.468000														37			16		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38185201	38185201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:38185201C>T	uc009vvi.3	-	14	2727	c.2641G>A	c.(2641-2643)Gac>Aac	p.D881N	EPHA10_uc001cbt.3_Non-coding_Transcript|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	881	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCCAGCAGTCGAGCATTAGT	0.632000														50			9		0	0	1	0	0
CHKB	1120	broad.mit.edu	37	22	51017915	51017915	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:51017915G>A	uc003bmv.3	-	9	1271	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	CPT1B_uc003bmk.4_5'Flank|CPT1B_uc003bmm.3_5'Flank|CPT1B_uc003bml.3_5'Flank|CPT1B_uc003bmo.3_5'Flank|CPT1B_uc011asa.2_5'Flank|CPT1B_uc003bmn.3_5'Flank|CPT1B_uc011asb.2_5'Flank|CPT1B_uc003bmp.3_5'UTR|CPT1B_uc021wsc.1_Non-coding_Transcript|CHKB_uc003bmt.2_Silent_p.F142F|CHKB_uc003bmu.3_Silent_p.F230F	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	Homo sapiens choline kinase beta (CHKB), mRNA.	351					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	GACCCCAGAAGAAATGGGATG	0.562000														35			6		0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22700095	22700095	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:22700095G>A	uc001iri.3	+	9	1617	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	SPAG6_uc010qct.2_Missense_Mutation_p.E459K|SPAG6_uc009xkh.3_Missense_Mutation_p.E462K|SPAG6_uc001irj.3_Intron|SPAG6_uc021poe.1_Missense_Mutation_p.E210K	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	484					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TTACCCCGAGGAAATAGTGAG	0.363000														52			17		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9560965	9560965	+	Silent	SNP	G	A	A	rs142086015		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9560965G>A	uc002wnl.2	-	4	1362	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	PAK7_uc002wnk.2_Silent_p.L273L|PAK7_uc002wnj.2_Silent_p.L273L|PAK7_uc010gby.1_Silent_p.L273L	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	273	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTCTGATTCAGGTACGAAGAC	0.567000														90			35		0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136620245	136620245	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136620245G>A	uc002tuw.3	-	7	1228	c.1152C>T	c.(1150-1152)acC>acT	p.T384T		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	384	MCM.			PKTTGEGTSLR -> SKDNRRRDLSS (in Ref. 2; AAC50766).	DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CTCGAAGAGAGGTCCCTTCTC	0.453000														116			52		0	0	1	0	0
ACTL7A	10881	broad.mit.edu	37	9	111625524	111625524	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:111625524G>A	uc004bdj.1	+	0	922	c.922G>A	c.(922-924)Gag>Aag	p.E308K		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	Homo sapiens actin-like 7A (ACTL7A), mRNA.	308						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGATGGGAAGGAGATTCAGCT	0.542000														58			24		0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151672380	151672380	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:151672380G>A	uc011eep.2	+	3	3094	c.2854G>A	c.(2854-2856)Gaa>Aaa	p.E952K	AKAP12_uc003qoe.3_Missense_Mutation_p.E952K|AKAP12_uc003qof.3_Missense_Mutation_p.E854K|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Missense_Mutation_p.E847K	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	952					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CACGGTTACTGAACCTCTGCC	0.532000														72			25		0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145103957	145103957	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:145103957G>A	uc001eml.1	+	2	262	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) (SEC22B), mRNA.	42	Longin.				ER to Golgi vesicle-mediated transport|protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane|melanosome	protein binding										TAACTCTTTCGAAAGTTGAAT	0.393000														38			6		0	0	1	0	0
HAS1	3036	broad.mit.edu	37	19	52220383	52220383	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52220383C>T	uc002pxn.1	-	1	800	c.787G>A	c.(787-789)Gag>Aag	p.E263K	HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_Missense_Mutation_p.E221K|HAS1_uc002pxo.1_Missense_Mutation_p.E256K|HAS1_uc002pxp.1_Missense_Mutation_p.E255K	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	256					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CGGGGGTCCTCGTCCAGTACC	0.622000														89			30		0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144416946	144416946	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144416946G>A	uc003yxz.3	-	0	105	c.86C>T	c.(85-87)cCg>cTg	p.P29L	TOP1MT_uc011lkd.2_Intron|TOP1MT_uc011lke.2_Intron|TOP1MT_uc010mfd.1_5'UTR	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	29					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCGCGAGCCCGGGACACCCCG	0.741000														33			8		0	0	1	0	0
FFAR1	2864	broad.mit.edu	37	19	35842700	35842700	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35842700C>T	uc002nzc.2	+	0	256	c.246C>T	c.(244-246)ttC>ttT	p.F82F		NM_005303	NP_005294	O14842	FFAR1_HUMAN	Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA.	82					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GCCCCGTCTTCGCGGTGGCCC	0.701000														10			4		0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47162320	47162320	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:47162320G>A	uc003cqv.3	-	2	3859	c.3773C>T	c.(3772-3774)aCc>aTc	p.T1258I	SETD2_uc003cqs.3_Missense_Mutation_p.T1269I	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.N1257_H1259delNTH(1)|p.N1257_H1259del(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTGATACGTGGTAGAAGGCTT	0.463000			"""N, F, S, Mis"""		clear cell renal carcinoma									87			37		0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66359505	66359505	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66359505G>A	uc001oiq.4	-	0	1050	c.982C>T	c.(982-984)Cct>Tct	p.P328S	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	328										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGGAGTGGAGGAAGGCCCAAC	0.617000														66			12		0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54925375	54925375	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:54925375G>A	uc002iur.3	+	4	1017	c.837G>A	c.(835-837)ggG>ggA	p.G279G	DGKE_uc002ius.1_Silent_p.G279G	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	279	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTTGTGGAGGGGATGGGACTG	0.398000														77			16		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141010029	141010029	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:141010029C>T	uc004cog.3	+	40	5814	c.5669C>T	c.(5668-5670)cCt>cTt	p.P1890L	CACNA1B_uc022bqn.1_Missense_Mutation_p.P1890L|CACNA1B_uc004coi.3_Missense_Mutation_p.P1104L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1892					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTGTTCCACCCTCTGAAGGCC	0.607000														103			29		0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27360640	27360640	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27360640G>A	uc002rjb.2	-	2	1138	c.558C>T	c.(556-558)tcC>tcT	p.S186S	C2orf53_uc021vfb.1_Silent_p.S186S	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	186										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGGGACCCGGACCCAGTGT	0.637000														60			21		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127505	152127505	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152127505C>T	uc001ezs.1	-	2	2135	c.2070G>A	c.(2068-2070)caG>caA	p.Q690Q		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	690	Gln-rich.					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						TGGTCTGGGCCTGTCTGTGGC	0.527000														160			61		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44671797	44671797	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44671797C>T	uc010zxl.1	+	8	1217	c.1141C>T	c.(1141-1143)Ctc>Ttc	p.L381F	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.L358F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	381					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.L358I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACAGAGAACCTCTGGAGCTC	0.607000														162			76		0	0	1	0	0
ZNF192	7745	broad.mit.edu	37	6	28119655	28119655	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28119655C>T	uc003nkn.1	+	3	776	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	ZNF192_uc010jqx.1_Nonsense_Mutation_p.Q198*|ZNF192_uc010jqy.1_Nonsense_Mutation_p.Q11*|ZNF192_uc011dkz.1_Nonsense_Mutation_p.Q11*	NM_006298	NP_006289	Q15776	ZN192_HUMAN	Homo sapiens zinc finger protein 192 (ZNF192), mRNA.	198					viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TACTCGTTCCCAGAAAGGAAG	0.527000														76			37		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130846099	130846099	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:130846099G>A	uc001uik.3	+	15	2194	c.1923G>A	c.(1921-1923)cgG>cgA	p.R641R	PIWIL1_uc001uij.2_Silent_p.R641R	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	641	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CAGCTGGGCGGAGGTCAATCG	0.483000														98			14		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189931480	189931480	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189931480C>T	uc002uqk.3	-	21	1705	c.1430G>A	c.(1429-1431)gGa>gAa	p.G477E	COL5A2_uc010frx.3_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	477					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GCCAGCTTCTCCTTTGAAACC	0.378000														113			45		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6058963	6058963	+	Missense_Mutation	SNP	G	A	A	rs62643643		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6058963G>A	uc001qnn.1	-	50	8492	c.8242C>T	c.(8242-8244)Cac>Tac	p.H2748Y	VWF_uc010set.1_3'UTR	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2748	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	p.H2748N(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGGCAGTAGTGGATATCCACC	0.522000														90			25		0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011385	138011385	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:138011385C>T	uc010nar.3	+	5	838	c.819C>T	c.(817-819)ttC>ttT	p.F273F	OLFM1_uc004cfl.4_Silent_p.F255F|OLFM1_uc004cfn.4_Silent_p.F24F	NM_014279	NP_055094	Q99784	NOE1_HUMAN	Homo sapiens olfactomedin 1 (OLFM1), transcript variant 1, mRNA.	273	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		ACAACCGCTTCGTACGTGAGT	0.567000														60			27		0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96180974	96180974	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:96180974C>T	uc001tei.3	-	1	777	c.328G>A	c.(328-330)Gag>Aag	p.E110K	NTN4_uc009ztf.3_Missense_Mutation_p.E110K|NTN4_uc009ztg.3_Missense_Mutation_p.E73K	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	110	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TGCACATCCTCCGCAGACTGC	0.532000														46			18		0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62496099	62496099	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62496099G>A	uc010deh.2	-	12	1830	c.1787C>T	c.(1786-1788)cCt>cTt	p.P596L	POLG2_uc002jei.3_5'Flank|POLG2_uc010deg.2_5'Flank|DDX5_uc002jek.2_Missense_Mutation_p.P596L|DDX5_uc002jej.2_Missense_Mutation_p.P491L|DDX5_uc010wqa.1_Missense_Mutation_p.P517L	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	596					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TGCAGTAGCAGGATATGCATA	0.388000			T	ETV4	prostate									66			8		0	0	1	0	0
GPD1	2819	broad.mit.edu	37	12	50500108	50500108	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:50500108C>T	uc001rvz.3	+	3	431	c.398C>T	c.(397-399)tCg>tTg	p.S133L	GPD1_uc001rwa.3_Missense_Mutation_p.S110L	NM_005276	NP_005267	P21695	GPDA_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA.	133					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	AAGCTCATCTCGGAAGTGATT	0.617000														18			13		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120601056	120601056	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:120601056G>A	uc001txo.3	-	18	1869	c.1856C>T	c.(1855-1857)cCc>cTc	p.P619L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	619					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCCTCTAAGGGCAGCACCTG	0.572000														33			14		0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16962338	16962339	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16962338_16962339CC>TT	uc002ney.2	+	5	865_866	c.842_843CC>TT	c.(841-843)ccc>cTT	p.P281L	SIN3B_uc002new.3_Missense_Mutation_p.P281L|SIN3B_uc002nez.2_Missense_Mutation_p.P281L	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	281					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTGTCTGCACCCGCCAAGGTAC	0.673000														70			14		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057759	152057759	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152057759G>A	uc001ezo.1	-	2	2464	c.2399C>T	c.(2398-2400)cCa>cTa	p.P800L		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	800							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)			CTGGTATAGTGGACTGGAATA	0.488000														123			50		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99661607	99661607	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:99661607G>A	uc010nmz.3	-	0	3665	c.1989C>T	c.(1987-1989)tcC>tcT	p.S663S	PCDH19_uc004efw.4_Silent_p.S663S|PCDH19_uc004efx.4_Silent_p.S663S	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	663	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGAGAGCAGGGGACAAGTAGA	0.522000														14			6		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1096345	1096345	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1096345G>A	uc001lsx.1	+	35	6385	c.6358G>A	c.(6358-6360)Gac>Aac	p.D2120N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4486						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGGCTGGGGCGACCCGCACTA	0.662000														38			10		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631980	32631980	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:32631980G>A	uc003zrg.1	-	0	3688	c.3598C>T	c.(3598-3600)Cgc>Tgc	p.R1200C	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.	1200					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)		GTCTCACAGCGAACATACTCT	0.428000														142			15		0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102567208	102567208	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102567208C>T	uc001phd.1	-	5	819	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	266			E -> V (in dbSNP:rs1276286).		collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TTAGCAGGTTCCTTAGGCAGA	0.418000														69			27		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18674337	18674337	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:18674337C>T	uc003sui.3	+	6	925	c.884C>T	c.(883-885)tCg>tTg	p.S295L	HDAC9_uc003sue.3_Missense_Mutation_p.S292L|HDAC9_uc011jyd.2_Missense_Mutation_p.S292L|HDAC9_uc003suh.3_Missense_Mutation_p.S292L|HDAC9_uc003suj.3_Missense_Mutation_p.S251L|HDAC9_uc011jya.2_Missense_Mutation_p.S290L|HDAC9_uc003sua.1_Missense_Mutation_p.S270L|HDAC9_uc003sud.2_Missense_Mutation_p.S292L|HDAC9_uc011jyc.2_Missense_Mutation_p.S251L|HDAC9_uc011jyb.2_Missense_Mutation_p.S248L|HDAC9_uc003suf.2_Missense_Mutation_p.S323L|HDAC9_uc010kud.2_Missense_Mutation_p.S295L|HDAC9_uc011jye.2_Missense_Mutation_p.S264L|HDAC9_uc011jyf.2_Missense_Mutation_p.S215L|HDAC9_uc010kue.1_Missense_Mutation_p.S35L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	292	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AATGAGACTTCGGTTTTGCCC	0.403000														10			5		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43625191	43625192	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:43625191_43625192GG>AA	uc002rsw.4	-	28	4497_4498	c.4145_4146CC>TT	c.(4144-4146)acc>aTT	p.T1382I	THADA_uc010far.3_Missense_Mutation_p.T577I|THADA_uc002rsx.4_Missense_Mutation_p.T1382I|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.T1091I|THADA_uc010fat.1_Missense_Mutation_p.T529I	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1382							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GAGTTCGAATGGTATTAGGAAT	0.480000														72			50		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78413252	78413252	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:78413252G>A	uc001ozl.4	-	27	4869	c.4406C>T	c.(4405-4407)tCa>tTa	p.S1469L		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1469					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AGCGGTGGCTGACTCCAGGGT	0.567000														23			10		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168096465	168096465	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:168096465G>A	uc002udx.3	+	5	1048	c.959G>A	c.(958-960)gGa>gAa	p.G320E	XIRP2_uc010fpn.3_Missense_Mutation_p.G353E|XIRP2_uc010fpo.3_Missense_Mutation_p.G320E|XIRP2_uc002udy.3_Missense_Mutation_p.G145E|XIRP2_uc010fpq.3_Missense_Mutation_p.G98E|XIRP2_uc010fpr.3_Missense_Mutation_p.G98E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	145					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGTTCATGGAACAGAAATG	0.388000														35			22		0	0	1	0	0
ANP32C	23520	broad.mit.edu	37	4	165118513	165118513	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:165118513G>A	uc011cjk.2	-	0	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	117										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		CCTCGCAATTGAAAAGGTCTA	0.438000														134			59		0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44378052	44378052	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44378052C>T	uc002oxs.4	-	1	305	c.305G>A	c.(304-306)gGa>gAa	p.G102E		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	Homo sapiens zinc finger protein 404 (ZNF404), mRNA.	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				ACTAAAACATCCCACTTTAGG	0.328000														148			40		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83182714	83182714	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:83182714C>T	uc001paj.2	-	18	2389	c.2086G>A	c.(2086-2088)Gac>Aac	p.D696N	DLG2_uc001pai.2_Missense_Mutation_p.D575N|DLG2_uc010rsy.1_Missense_Mutation_p.D645N|DLG2_uc021qof.1_Missense_Mutation_p.D735N|DLG2_uc010rsz.1_Missense_Mutation_p.D692N|DLG2_uc010rta.1_Missense_Mutation_p.D678N|DLG2_uc001pak.2_Missense_Mutation_p.D801N|DLG2_uc010rtb.1_Missense_Mutation_p.D663N|DLG2_uc010rsx.1_Missense_Mutation_p.D173N|DLG2_uc010rsw.1_Missense_Mutation_p.D160N	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	696	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GATATCAAGTCGTCATTGATC	0.428000														40			14		0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110018217	110018217	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110018217C>T	uc001dxp.3	+	2	510	c.144C>T	c.(142-144)ttC>ttT	p.F48F	SYPL2_uc001dxo.2_Silent_p.F48F|SYPL2_uc010ovk.2_Silent_p.F48F|SYPL2_uc001dxq.2_5'Flank	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	Homo sapiens synaptophysin-like 2 (SYPL2), mRNA.	48	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTGCTATTTTCGCCTTCGGGT	0.547000														57			20		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73486830	73486830	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73486830C>T	uc010wsa.2	+	9	1341	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V	KIAA0195_uc002jnz.4_Silent_p.V373V|KIAA0195_uc010wsb.2_Silent_p.V25V	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	373					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGAGGCTGTCTCCTCTCAGG	0.557000														37			15		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49706729	49706729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:49706729C>T	uc003jom.3	-	3	703	c.454G>A	c.(454-456)Gga>Aga	p.G152R	EMB_uc003jol.3_Missense_Mutation_p.G83R|EMB_uc011cpy.2_Missense_Mutation_p.G102R	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	152	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTAAATGTTCCCCTTTGTTCC	0.284000														51			4		0	0	1	0	0
CCDC134	79879	broad.mit.edu	37	22	42204930	42204930	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:42204930C>T	uc003bbh.1	+	1	145	c.36C>T	c.(34-36)gtC>gtT	p.V12V	bK250D10.C22.8_uc003bba.1_Intron|CCDC134_uc011apg.1_Silent_p.V12V	NM_024821	NP_079097	Q9H6E4	CC134_HUMAN	Homo sapiens coiled-coil domain containing 134 (CCDC134), mRNA.	12						extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						TCCTCTTTGTCCTGCTTTTGT	0.493000														92			19		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57070091	57070091	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57070091G>A	uc001njr.3	-	5	4837	c.4525C>T	c.(4525-4527)Ccg>Tcg	p.P1509S	TNKS1BP1_uc001njq.3_Missense_Mutation_p.P81S|TNKS1BP1_uc001njs.3_Missense_Mutation_p.P1509S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1509	Acidic.|Tankyrase-binding.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCAGGCTGCGGCCTCCAGGAG	0.672000														26			4		0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79190701	79190701	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:79190701G>A	uc001vkw.1	-	5	1254	c.1195C>T	c.(1195-1197)Cag>Tag	p.Q399*	BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Nonsense_Mutation_p.Q209*	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	399							zinc ion binding	p.Q399E(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GTACTGAGCTGAAGGCAACTA	0.423000														132			43		0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705578	101705578	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:101705578C>T	uc021oqt.1	+	0	1038	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A	S1PR1_uc001dud.2_Silent_p.A346A|S1PR1_uc009weg.2_Silent_p.A346A	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	346					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CCATCATCGCCGGCATGGAAT	0.552000														184			10		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902127	51902127	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:51902127G>A	uc002iua.2	+	0	1889	c.1733G>A	c.(1732-1734)aGg>aAg	p.R578K	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	578					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.Q577*(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCCCTTCAGAGGGATGAATTT	0.418000														63			32		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35923030	35923030	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:35923030G>A	uc003olm.3	-	16	2242	c.2131C>T	c.(2131-2133)Cct>Tct	p.P711S	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.P293S|SLC26A8_uc003oll.3_Missense_Mutation_p.P606S|SLC26A8_uc003oln.3_Missense_Mutation_p.P711S	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	711	Interaction with RACGAP1.|STAS.				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						TCTGAGTAAGGGATGAGTGAT	0.507000														63			27		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771318	143771318	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143771318G>A	uc011ktx.2	+	0	6	c.6G>A	c.(4-6)ggG>ggA	p.G2G		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GGGAAATGGGGGGAAATCAGA	0.443000														98			25		0	0	1	0	0
FEZF2	55079	broad.mit.edu	37	3	62358297	62358297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:62358297C>T	uc003dlh.2	-	0	454	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	FEZF2_uc003dli.2_Missense_Mutation_p.V83M	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	Homo sapiens FEZ family zinc finger 2 (FEZF2), mRNA.	83					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		TTTGACGGCACCTCGTAGCCT	0.706000														46			18		0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130341178	130341178	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:130341178G>A	uc010scd.2	+	6	1978	c.1978G>A	c.(1978-1980)Gat>Aat	p.D660N		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	660	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGCTGGCTGTGATGGGAACCT	0.567000														54			9		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71510219	71510219	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71510219G>A	uc011caw.1	+	8	3357	c.3076G>A	c.(3076-3078)Gaa>Aaa	p.E1026K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	1026					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	p.E1026Q(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TACACCTGATGAAGGCTCCAA	0.433000														93			20		0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891650	5891650	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:5891650C>T	uc002kmx.1	-	0	454	c.413G>A	c.(412-414)cGa>cAa	p.R138Q		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	138						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GGAGGCGGCTCGTGCTGGAGG	0.652000														50			12		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61391751	61391751	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61391751C>T	uc002jal.4	+	7	963	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	TANC2_uc010wpe.2_Missense_Mutation_p.R224C	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	314							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CCTTTCAGTTCGCTTTGCACC	0.438000														40			24		0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42830653	42830653	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:42830653G>A	uc010goq.3	+	14	2303	c.1957G>A	c.(1957-1959)Gct>Act	p.A653T	MX1_uc002yzh.3_Missense_Mutation_p.A653T|MX1_uc002yzi.3_Missense_Mutation_p.A653T	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	653	GED.				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCTGACGCAGGCTCGGCGCCG	0.652000														54			8		0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57043060	57043060	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:57043060G>A	uc002iwx.3	+	2	716	c.589G>A	c.(589-591)Gag>Aag	p.E197K	PPM1E_uc010ddd.3_Intron	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	206					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CACAGAGATTGAGACAGTGAA	0.463000														300			112		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024324	76024324	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:76024324C>T	uc010kbe.3	-	5	1763	c.1233G>A	c.(1231-1233)agG>agA	p.R411R	FILIP1_uc003phy.1_Silent_p.R408R|FILIP1_uc003phz.3_Silent_p.R309R|FILIP1_uc003pia.3_Silent_p.R408R|FILIP1_uc003pib.1_Silent_p.R160R	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	408										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GCAGCTTCTTCCTCAATTCCC	0.428000														152			14		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171083178	171083178	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171083178G>A	uc001ghi.3	+	6	970	c.859G>A	c.(859-861)Gag>Aag	p.E287K	FMO3_uc001ghh.3_Missense_Mutation_p.E287K|FMO3_uc010pmb.2_Missense_Mutation_p.E267K|FMO3_uc010pmc.2_Missense_Mutation_p.E224K	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	287					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTTAACGATGAGCTCCCAGC	0.413000														48			22		0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65829159	65829159	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65829159G>A	uc001ogy.1	+	14	1822	c.1782G>A	c.(1780-1782)ggG>ggA	p.G594G		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	594					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TCCCTCAGGGGAAGGAGTTCG	0.502000														48			17		0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110465872	110465872	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110465872C>T	uc001dyu.2	+	5	1042	c.629C>T	c.(628-630)cCc>cTc	p.P210L	CSF1_uc001dyt.2_Missense_Mutation_p.P210L|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Missense_Mutation_p.P210L|CSF1_uc021orj.1_Intron	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	210					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCTCATCAGCCCCTCGCCCCC	0.617000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		103			26		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73479976	73479976	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:73479976G>A	uc003xzb.3	+	1	595	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	3					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)			CAAAATGGCAGAAAAGGCTCC	0.512000														90			42		0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209961772	209961772	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:209961772G>A	uc001hhq.2	-	8	1701	c.1397C>T	c.(1396-1398)cCc>cTc	p.P466L	IRF6_uc010psm.2_Missense_Mutation_p.P371L	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	466					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CAATTACTGGGGAGGCAGGGC	0.458000										HNSCC(57;0.16)				43			16		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169116292	169116292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:169116292C>T	uc003maf.3	+	8	878	c.798C>T	c.(796-798)ttC>ttT	p.F266F	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	266					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.G265D(1)|p.G265C(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)			GCCGGGGCTTCCCTAAGGAGA	0.522000														56			17		0	0	1	0	0
CLDN17	26285	broad.mit.edu	37	21	31538872	31538872	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:31538872G>A	uc011acv.2	-	0	100	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F		NM_012131	NP_036263	P56750	CLD17_HUMAN	Homo sapiens claudin 17 (CLDN17), mRNA.	22					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GTTGTGGCAAGAGTCCCCACC	0.483000														66			24		0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987862	50987862	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50987862C>T	uc003bmi.3	+	0	1401	c.1267C>T	c.(1267-1269)Ccg>Tcg	p.P423S		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	Homo sapiens kelch domain containing 7B (KLHDC7B), mRNA.	423										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGCTACGACCCGCGAACAGA	0.687000														109			24		0	0	1	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45993752	45993752	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45993752C>T	uc002zfk.1	+	0	147	c.117C>T	c.(115-117)ccC>ccT	p.P39P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	39	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCTGCGAGCCCCCCTGCTGCG	0.701000														66			7		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82785261	82785261	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82785261C>T	uc003uhx.2	-	1	985	c.696G>A	c.(694-696)caG>caA	p.Q232Q	PCLO_uc003uhv.2_Silent_p.Q232Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	232	Gln-rich.|Pro-rich.				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						GAGTGCCATCCTGCTGAAGCG	0.468000														31			17		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65178682	65178682	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:65178682G>A	uc002lke.1	-	1	4418	c.3194C>T	c.(3193-3195)cCa>cTa	p.P1065L	DSEL_uc021ulg.1_Missense_Mutation_p.P1065L	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	1055						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TAAATGCTCTGGTACATTCTT	0.358000														50			26		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182392099	182392099	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:182392099G>A	uc002unu.3	+	21	3178	c.2415G>A	c.(2413-2415)atG>atA	p.M805I	ITGA4_uc010frj.1_Missense_Mutation_p.M287I|ITGA4_uc002unv.3_Missense_Mutation_p.M50I	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	805					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGGAGAAAATGAACTTAACTT	0.333000														62			19		0	0	1	0	0
TRIM50	135892	broad.mit.edu	37	7	72738612	72738612	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:72738612C>T	uc003txy.1	-	1	375	c.174G>A	c.(172-174)caG>caA	p.Q58Q	FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Silent_p.Q58Q|TRIM50_uc003txz.1_Silent_p.Q58Q	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	Homo sapiens tripartite motif containing 50 (TRIM50), mRNA.	58						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CGTCCACCGCCTGCCGGCACA	0.687000											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			22		0	0	1	0	0
GRAP2	9402	broad.mit.edu	37	22	40351840	40351840	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:40351840G>A	uc003ayh.2	+	2	359	c.96G>A	c.(94-96)gaG>gaA	p.E32E	GRAP2_uc011aom.2_Intron|GRAP2_uc011aon.2_Intron|GRAP2_uc010gya.2_Silent_p.E32E|GRAP2_uc011aoo.2_Intron|GRAP2_uc011aop.2_Silent_p.E32E|GRAP2_uc011aoq.2_Intron|GRAP2_uc003ayj.2_Silent_p.E32E	NM_004810	NP_004801	O75791	GRAP2_HUMAN	Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.	32	SH3 1.				Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway|cell-cell signaling	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GTAACCAAGAGGAGTGGTTTA	0.458000														60			6		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8656896	8656896	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8656896C>T	uc002mkj.1	-	13	1953	c.1679G>A	c.(1678-1680)aGc>aAc	p.S560N	ADAMTS10_uc002mki.1_Missense_Mutation_p.A51T|ADAMTS10_uc002mkk.1_Missense_Mutation_p.S192N	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	560	TSP type-1 1.				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						ACAGGTCCGGCTGCAGTCGCC	0.711000														33			11		0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7711159	7711159	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7711159G>A	uc010xjr.2	+	15	1459	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K	STXBP2_uc002mha.4_Missense_Mutation_p.E461K|STXBP2_uc002mhb.4_Missense_Mutation_p.E458K|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_Missense_Mutation_p.E89K	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	461					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CAGCCGGCTGGAGCCGAGAGA	0.672000														5			3		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994117	140994117	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140994117C>T	uc004fbt.3	+	3	1251	c.927C>T	c.(925-927)tcC>tcT	p.S309S	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.	309				SSS -> PSF (in Ref. 2; AAC24227).			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)					CTGTGAGCTCCTCCTCCTCCT	0.478000										HNSCC(15;0.026)				126			135		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967584	41967584	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:41967584G>A	uc010skn.2	+	9	3011	c.3003G>A	c.(3001-3003)aaG>aaA	p.K1001K	PDZRN4_uc001rmq.4_Silent_p.K743K|PDZRN4_uc009zjz.3_Silent_p.K741K|PDZRN4_uc001rmr.3_Silent_p.K628K	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	1001							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGAGAAACAAGAAAATTTTGG	0.458000														36			10		0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37603671	37603671	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37603671C>T	uc003ara.3	-	1	234	c.172G>A	c.(172-174)Ggc>Agc	p.G58S	SSTR3_uc003arb.3_Missense_Mutation_p.G58S|SSTR3_uc021wos.1_Missense_Mutation_p.G58S	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	58					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CCCAGCAGGCCCACCACGCAC	0.657000														105			40		0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728090	20728090	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:20728090G>A	uc002npa.3	-	3	1099	c.919C>T	c.(919-921)Cat>Tat	p.H307Y		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	307					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCTCCGCTATGAATTATCTTA	0.408000														56			20		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316985	30316985	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:30316985C>T	uc009xle.2	-	2	2229	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	KIAA1462_uc001iux.3_Missense_Mutation_p.E698K|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.E560K	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	698										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTTTGGGGCTCCTCGGAGAAA	0.547000														46			14		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186026368	186026368	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:186026368C>T	uc001grq.1	+	45	7376	c.7147C>T	c.(7147-7149)Cct>Tct	p.P2383S		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2383					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCTTACAGCTCCTCCAAGCAT	0.368000														49			19		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71795107	71795107	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71795107C>T	uc010fen.3	+	24	2733	c.2592C>T	c.(2590-2592)gcC>gcT	p.A864A	DYSF_uc010fei.3_Silent_p.A863A|DYSF_uc010feh.3_Silent_p.A832A|DYSF_uc002sig.4_Silent_p.A832A|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.A877A|DYSF_uc010fee.3_Silent_p.A846A|DYSF_uc010fef.3_Silent_p.A863A|DYSF_uc002sie.3_Silent_p.A846A|DYSF_uc010feo.3_Silent_p.A878A|DYSF_uc010fej.3_Silent_p.A833A|DYSF_uc010fel.3_Silent_p.A833A|DYSF_uc010fem.3_Silent_p.A847A|DYSF_uc002sif.3_Silent_p.A847A|DYSF_uc010fek.3_Silent_p.A864A	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	846						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGCCTGGCGCCCGGATGCCAG	0.572000														65			35		0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774643	100774643	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:100774643C>T	uc010svi.2	+	1	579	c.266C>T	c.(265-267)tCc>tTc	p.S89F	SLC17A8_uc009ztx.3_Missense_Mutation_p.S89F	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	89					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.I88N(1)|p.S89T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTCTGCATTTCCTTTGGGATC	0.517000														127			28		0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119014811	119014811	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:119014811C>T	uc001ldd.2	+	6	887	c.724C>T	c.(724-726)Ctc>Ttc	p.L242F	SLC18A2_uc009xyy.2_Missense_Mutation_p.L39F	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	242					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CGGGAGTGTGCTCTATGAGTT	0.602000														45			12		0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52901670	52901670	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:52901670C>T	uc010ugf.2	-	4	1596	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	FAM214A_uc002acg.4_Missense_Mutation_p.E481K|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Missense_Mutation_p.E393K	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	481								p.E481K(1)									TCTTGCCGCTCCTGGAGTAAA	0.428000														164			12		0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48049607	48049607	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:48049607C>T	uc004diz.1	-	6	604	c.551G>A	c.(550-552)gGa>gAa	p.G184E	SSX5_uc004dja.1_Missense_Mutation_p.G143E	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	143				Q -> P (in Ref. 1; AAC05821).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						ATTTAGTTTTCCTGAGGGGCG	0.483000														42			64		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368848	86368848	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:86368848C>T	uc001vll.1	-	1	2255	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q	SLITRK6_uc021rla.1_Missense_Mutation_p.R599Q	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	599						integral to membrane		p.R599*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CGTAAGAGATCGTAAAATAGT	0.418000														119			38		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2908728	2908728	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:2908728C>T	uc010ckd.3	+	14	1356	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	RAP1GAP2_uc010cke.3_Silent_p.F407F	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	422	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCCCCGTTTTCCAGAAGGTAG	0.572000														146			24		0	0	1	0	0
RPS24	6229	broad.mit.edu	37	10	79795386	79795386	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:79795386C>T	uc001jzs.3	+	2	329	c.187C>T	c.(187-189)Cat>Tat	p.H63Y	RPS24_uc010qlo.2_Missense_Mutation_p.H63Y|RPS24_uc001jzp.3_Missense_Mutation_p.H63Y|RPS24_uc001jzq.3_Missense_Mutation_p.H63Y	NM_001142285	NP_001135757	P62847	RS24_HUMAN	Homo sapiens ribosomal protein S24 (RPS24), transcript variant d, mRNA.	63					endocrine pancreas development|erythrocyte homeostasis|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	nucleotide binding|structural constituent of ribosome|translation initiation factor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			ATTCAGAACTCATTTTGGTGG	0.433000														187			65		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215910690	215910690	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:215910690C>T	uc002vew.3	-	6	963	c.743G>A	c.(742-744)aGa>aAa	p.R248K	ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	248					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGACAGCATTCTGACTATTTC	0.373000														64			22		0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92915537	92915537	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:92915537C>T	uc001yak.3	+	9	880	c.857C>T	c.(856-858)cCt>cTt	p.P286L	SLC24A4_uc001yai.3_Missense_Mutation_p.P222L|SLC24A4_uc010twm.2_Intron|SLC24A4_uc010auj.3_Intron|SLC24A4_uc010twn.2_Missense_Mutation_p.P42L|AX747894_uc001yal.1_Non-coding_Transcript	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	286						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TATGATGACCCTTCCGTGCCA	0.502000														40			16		0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50906815	50906815	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50906815C>T	uc010eny.3	+	8	1204	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	POLD1_uc002psb.4_Silent_p.F401F|POLD1_uc002psc.4_Silent_p.F401F|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	401					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding	p.F401F(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TCCAGAACTTCGACCTTCCGT	0.627000								DNA polymerases (catalytic subunits)						135			61		0	0	1	0	0
TUBB3	10381	broad.mit.edu	37	16	90001895	90001895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:90001895C>T	uc002fpf.2	+	4	2485	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	TUBB3_uc010ciz.1_Missense_Mutation_p.P274S|TUBB3_uc002fph.2_Missense_Mutation_p.P346S|TUBB3_uc002fpj.1_Missense_Mutation_p.P274S|TUBB3_uc002fpk.1_Missense_Mutation_p.P200S	NM_006086	NP_006077	Q13509	TBB3_HUMAN	Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.	346					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGAGTGGATCCCCAACAACGT	0.612000														177			51		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107083658	107083658	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:107083658G>A	uc021ser.1	-	129		c.5593C>T								Parts of antibodies, mostly variable regions.																		GCTGCCACCAGGAGAAGGAAG	0.507000														71			18		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5757925	5757925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:5757925G>A	uc002mda.3	+	13	1411	c.1350G>A	c.(1348-1350)ggG>ggA	p.G450G	CATSPERD_uc010duj.1_Silent_p.G108G	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	450						integral to membrane											CATCAGATGGGAACACCAAGT	0.567000														37			18		0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1556972	1556972	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1556972C>T	uc002cly.3	+	17	2437	c.2146C>T	c.(2146-2148)Ctc>Ttc	p.L716F		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	716						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GACCTTCGACCTCTTGGGAGA	0.657000														26			4		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55444962	55444962	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55444962G>A	uc002qih.4	-	7	2693	c.2617C>T	c.(2617-2619)Cct>Tct	p.P873S	NLRP7_uc010esk.3_Missense_Mutation_p.P873S|NLRP7_uc002qig.4_Missense_Mutation_p.P845S|NLRP7_uc002qii.4_Missense_Mutation_p.P873S|NLRP7_uc010esl.3_Missense_Mutation_p.P901S	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	873							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTACAATCAGGGTAACTCAAG	0.483000														53			15		0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223465938	223465938	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:223465938C>T	uc001hnx.3	-	1	838	c.204G>A	c.(202-204)agG>agA	p.R68R	SUSD4_uc001hny.4_Silent_p.R68R|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Silent_p.R68R|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	68	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CGCTGGGGGTCCTGAAGCCAT	0.507000														80			25		0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55362421	55362421	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:55362421C>T	uc002lgw.3	-	9	1042	c.922G>A	c.(922-924)Ggc>Agc	p.G308S	LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	308			G -> D (in BRIC1; dbSNP:rs28939685).|G -> V (in PFIC1; dbSNP:rs28939685).		ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				ATGACTAAGCCGTGGCAGAAA	0.383000														57			29		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31595112	31595112	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:31595112C>T	uc002rnv.1	-	16	1917	c.1838G>A	c.(1837-1839)cGg>cAg	p.R613Q		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	613					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGCGTGGGCCCGGGTGCTGGT	0.622000														149			51		0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58036612	58036612	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:58036612G>A	uc021rtp.1	-	5	1066	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Silent_p.F217F	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAAGGAGATGAAGATCAAAT	0.483000														12			4		0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18192171	18192171	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:18192171C>T	uc004cyj.4	-	11	2114	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	BEND2_uc010nfb.2_Missense_Mutation_p.E563K	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	654										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CCAGGTTCCTCTGGATTATCA	0.378000														13			20		0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77918525	77918525	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:77918525G>A	uc002ffg.1	+	6	1000	c.903G>A	c.(901-903)gtG>gtA	p.V301V		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	301							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						TGGAGAAGGTGAACCCCATCA	0.512000														15			10		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70933777	70933777	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70933777G>A	uc001swb.4	-	21	4996	c.4966C>T	c.(4966-4968)Cgt>Tgt	p.R1656C	PTPRB_uc010sto.2_Missense_Mutation_p.R1566C|PTPRB_uc010stp.2_Missense_Mutation_p.R1566C|PTPRB_uc001swc.4_Missense_Mutation_p.R1874C|PTPRB_uc001swa.4_Missense_Mutation_p.R1786C	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1656					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGCTCAGACGGGCAGAGGGT	0.418000														31			10		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153884264	153884264	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:153884264C>T	uc003inf.2	+	6	1086	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	337	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGATGAATCTCCTGCACTTTG	0.438000														99			48		0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69095033	69095033	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69095033C>T	uc003hdw.4	-	7	1024	c.888G>A	c.(886-888)atG>atA	p.M296I		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	296	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CTGAGAGCTTCATTTTGGCTT	0.378000														80			37		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873178	55873178	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55873178C>T	uc010riy.2	+	0	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V219L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CCTATGTGTTCATTCTCTTTA	0.403000										HNSCC(53;0.14)				124			55		0	0	1	0	0
EFHA2	286097	broad.mit.edu	37	8	16961987	16961987	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:16961987G>A	uc003wxd.2	+	9	1114	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	Homo sapiens EF-hand domain family, member A2 (EFHA2), mRNA.	358						integral to membrane	calcium ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(4)	23				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		GCTCAACTTTGAAGATTTTTA	0.294000														68			33		0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35587930	35587930	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:35587930C>T	uc011dte.1	-	3	575	c.372G>A	c.(370-372)tcG>tcA	p.S124S	FKBP5_uc003okx.2_Silent_p.S124S|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Silent_p.S124S|FKBP5_uc003okz.2_Silent_p.S124S	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	124	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GAGTTGCATTCGAGGGAATTT	0.453000														83			33		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19656605	19656605	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19656605C>T	uc002nmw.4	+	7	3354	c.3269C>T	c.(3268-3270)tCc>tTc	p.S1090F	CILP2_uc002nmv.4_Missense_Mutation_p.S1084F	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	1084						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TTTGATGGTTCCTCTGACGGC	0.627000														14			9		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307420	140307420	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140307420G>A	uc003lih.2	+	0	1119	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.E315K	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	340	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGGGACGAAGGTGTCTT	0.547000														133			54		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612091	189612091	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:189612091C>T	uc003fry.2	+	13	1932	c.1843C>T	c.(1843-1845)Cat>Tat	p.H615Y	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.H521Y|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.H436Y	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	615	Transactivation inhibition.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTCCCCTTCTCATCTCCTGCG	0.572000										HNSCC(45;0.13)				73			35		0	0	1	0	0
RASA4	10156	broad.mit.edu	37	7	102246372	102246372	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:102246372G>A	uc003vae.3	-	4	430	c.361C>T	c.(361-363)Cac>Tac	p.H121Y	RASA4_uc011kla.2_Missense_Mutation_p.H49Y|RASA4_uc010lig.3_Missense_Mutation_p.H49Y|RASA4_uc003vaf.3_Missense_Mutation_p.H121Y|RASA4_uc011klb.2_Missense_Mutation_p.H49Y|RASA4_uc010lih.2_5'UTR|RASA4_uc011kld.1_Intron	NM_006989	NP_008920	O43374	RASL2_HUMAN	Homo sapiens RAS p21 protein activator 4 (RASA4), transcript variant 1, mRNA.	121					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytosol|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						AGCCGCAGGTGGATCTCGCCC	0.716000														24			12		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404786	10404786	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10404786C>T	uc002gmo.3	-	26	3473	c.3379G>A	c.(3379-3381)Gag>Aag	p.E1127K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1127						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CGCTCTGCCTCGATTTCCTCC	0.542000														32			30		0	0	1	0	0
ZW10	9183	broad.mit.edu	37	11	113614568	113614568	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113614568G>A	uc001poe.3	-	9	1564	c.1467C>T	c.(1465-1467)ctC>ctT	p.L489L	ZW10_uc009yyv.3_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.	489					ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TCTGATAGGCGAGTTCCATTA	0.403000														125			33		0	0	1	0	0
ZNF192	7745	broad.mit.edu	37	6	28121356	28121356	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28121356C>T	uc003nkn.1	+	5	1482	c.1298C>T	c.(1297-1299)cCc>cTc	p.P433L	ZNF192_uc010jqx.1_Missense_Mutation_p.P433L|ZNF192_uc010jqy.1_Missense_Mutation_p.P246L|ZNF192_uc011dkz.1_Missense_Mutation_p.P246L	NM_006298	NP_006289	Q15776	ZN192_HUMAN	Homo sapiens zinc finger protein 192 (ZNF192), mRNA.	433					viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGAGAGAGACCCTATGAATGT	0.498000														123			11		0	0	1	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46102014	46102014	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46102014C>T	uc002zfv.3	-	0	65	c.25G>A	c.(25-27)Ggc>Agc	p.G9S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181686	NP_859014	P59990	KR121_HUMAN	Homo sapiens keratin associated protein 12-1 (KRTAP12-1), mRNA.	9						keratin filament				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						GGCTGGCAGCCCGAGGAGCAG	0.657000														46			19		0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299230	158299230	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158299230C>T	uc001frx.3	-	3	924	c.816G>A	c.(814-816)ggG>ggA	p.G272G	CD1B_uc001frw.3_Intron	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	272	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CAGCCGCCTCCCCATCTGCCA	0.587000														84			24		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169696962	169696962	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169696962C>T	uc001ggm.4	-	8	1543	c.1386G>A	c.(1384-1386)gaG>gaA	p.E462E	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	462	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CAAATCCCTCCTCACAGCTGA	0.502000														118			33		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200786	132200786	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:132200786C>T	uc002tst.2	-	0	1682	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		ACCTTGCACTCCCGGAGGAAC	0.632000														16			5		0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177036456	177036456	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:177036456G>A	uc002ukt.1	+	2	929	c.753G>A	c.(751-753)aaG>aaA	p.K251K		NM_006898	NP_008829	P31249	HXD3_HUMAN	Homo sapiens homeobox D3 (HOXD3), mRNA.	251					Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		AGTACAAGAAGGACCAGAAGG	0.662000														89			37		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140777335	140777335	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140777335G>A	uc004cog.3	+	3	675	c.530_splice	c.e3+1	p.G177_splice	AK128414_uc004cof.1_Non-coding_Transcript|CACNA1B_uc022bqn.1_Splice_Site_p.G177_splice	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	177					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTCCTCACAGGGTAGGCAAGC	0.622000														221			37		0	0	1	0	0
WBP1	23559	broad.mit.edu	37	2	74687629	74687629	+	Missense_Mutation	SNP	G	A	A	rs143637433	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74687629G>A	uc002slj.2	+	3	834	c.631G>A	c.(631-633)Gac>Aac	p.D211N	INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	211							WW domain binding	p.G210G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						TTTAACTGGCGACTCCGGTAT	0.652000														150			76		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42237142	42237142	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:42237142C>T	uc003ose.2	-	4	750	c.187G>A	c.(187-189)Gat>Aat	p.D63N	TRERF1_uc011duq.1_Missense_Mutation_p.D63N|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.D63N	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	63					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCAGACCATCCCGTGTATCT	0.587000														108			28		0	0	1	0	0
ADA	100	broad.mit.edu	37	20	43257798	43257798	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43257798G>A	uc002xmj.3	-	2	236	c.108C>T	c.(106-108)atC>atT	p.I36I		NM_000022	NP_000013	P00813	ADA_HUMAN	Homo sapiens adenosine deaminase (ADA), mRNA.	36					T cell activation|adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CTGGGAGGGCGATCCCTCTCC	0.597000									Adenosine Deaminase Deficiency					42			21		0	0	1	0	0
KIAA0240	23506	broad.mit.edu	37	6	42833145	42833145	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:42833145C>T	uc003osn.1	+	12	3352	c.3201C>T	c.(3199-3201)tcC>tcT	p.S1067S	KIAA0240_uc011duw.1_Silent_p.S1067S|KIAA0240_uc003osp.1_Silent_p.S1067S	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	1067										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			AAACTGACTCCATTTTAGAAG	0.512000														115			45		0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100192536	100192536	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:100192536C>T	uc001ygo.3	+	13	1275	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	CYP46A1_uc001ygp.3_Silent_p.F262F	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	425					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGCCACGGTTCACCTACTTCC	0.607000														47			15		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41559078	41559078	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:41559078C>T	uc003xok.3	-	21	2535	c.2451G>A	c.(2449-2451)tcG>tcA	p.S817S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.S125S|ANK1_uc003xoi.3_Silent_p.S817S|ANK1_uc003xoj.3_Silent_p.S817S|ANK1_uc003xol.3_Silent_p.S817S|ANK1_uc003xom.3_Silent_p.S850S	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	817	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTTCATCTTCCGAGACATCCA	0.517000											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			18		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834329	61834329	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61834329C>T	uc001jky.3	-	36	6648	c.6310G>A	c.(6310-6312)Gga>Aga	p.G2104R	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.	2104					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						GTATCTGTTCCAAAAAAGGAA	0.408000														88			31		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24171030	24171030	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24171030G>A	uc003xdy.3	+	5	596	c.513G>A	c.(511-513)atG>atA	p.M171I	ADAM28_uc003xdx.3_Missense_Mutation_p.M171I|ADAM28_uc011kzz.2_Intron|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	171					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.G170W(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCTGTGGGATGGATGGTGTGT	0.433000														142			39		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700041	136700041	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:136700041G>A	uc003vtf.1	+	3	1052	c.429G>A	c.(427-429)atG>atA	p.M143I	CHRM2_uc003vtg.1_Missense_Mutation_p.M143I|CHRM2_uc003vti.1_Missense_Mutation_p.M143I|CHRM2_uc003vtm.1_Missense_Mutation_p.M143I|CHRM2_uc003vtj.1_Missense_Mutation_p.M143I|CHRM2_uc003vtk.1_Missense_Mutation_p.M143I|CHRM2_uc003vtl.1_Missense_Mutation_p.M143I|CHRM2_uc003vtn.1_Missense_Mutation_p.M143I|CHRM2_uc003vto.1_Missense_Mutation_p.M143I|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.M143I	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	143					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CAGGTATGATGATTGCAGCTG	0.502000														90			41		0	0	1	0	0
RBM43	375287	broad.mit.edu	37	2	152107524	152107524	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152107524G>A	uc002txh.3	-	3	1118	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	Homo sapiens RNA binding motif protein 43 (RBM43), mRNA.	324							RNA binding|nucleotide binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AGGTTAATCAGGACTTCAAGG	0.343000														91			32		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98916675	98916675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:98916675G>A	uc002syo.3	+	24	3680	c.3416G>A	c.(3415-3417)cGg>cAg	p.R1139Q	VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.R796Q|VWA3B_uc002syp.1_Missense_Mutation_p.R531Q|VWA3B_uc002syq.1_Missense_Mutation_p.R415Q|VWA3B_uc002syr.1_Missense_Mutation_p.R456Q|VWA3B_uc002sys.3_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	1139										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTAACAACCGGAGAGTAAGT	0.448000														105			44		0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44691437	44691437	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44691437G>A	uc002xrd.3	-	6	1770	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	NCOA5_uc002xrc.3_3'UTR|NCOA5_uc002xre.3_Silent_p.L414L	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TAGCAGAGGGGAGCACTTGGC	0.617000														110			44		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885004	29885004	+	Missense_Mutation	SNP	G	A	A	rs59297913		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:29885004G>A	uc003afo.3	+	3	1446	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	KIAA0845_uc003afp.3_5'Flank	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	459	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GATTGTGGAGGAACAGACAGA	0.478000														48			17		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7655151	7655151	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7655151C>T	uc001qsz.3	-	1	184	c.56G>A	c.(55-57)aGa>aAa	p.R19K	CD163_uc001qta.3_Missense_Mutation_p.R19K|CD163_uc009zfw.2_Missense_Mutation_p.R19K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	19					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						gacaaaatgtcttctgaagtc	0.383000														9			3		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155498001	155498001	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:155498001G>A	uc003qqb.3	+	11	3686	c.2413G>A	c.(2413-2415)Gac>Aac	p.D805N	TIAM2_uc003qqe.3_Missense_Mutation_p.D805N|TIAM2_uc010kjj.3_Missense_Mutation_p.D338N|TIAM2_uc003qqf.3_Missense_Mutation_p.D181N|TIAM2_uc011efl.1_Missense_Mutation_p.D141N|TIAM2_uc003qqg.3_Missense_Mutation_p.D117N	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	805					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGTTCCCCGAGACAATGCATG	0.403000														71			57		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209807849	209807849	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:209807849C>T	uc001hhg.3	-	4	897	c.507G>A	c.(505-507)caG>caA	p.Q169Q	LAMB3_uc009xco.3_Silent_p.Q169Q|LAMB3_uc001hhh.3_Silent_p.Q169Q|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Intron	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	169	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ACCGAACATCCTGCCAGCTCT	0.607000														97			23		0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3040254	3040254	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:3040254C>T	uc001qlj.2	+	5	625	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	TULP3_uc010sef.1_Non-coding_Transcript|TULP3_uc009zec.1_5'UTR|TULP3_uc010seh.1_Silent_p.L182L|TULP3_uc010sei.1_Silent_p.L39L	NM_001160408	NP_001153880	O75386	TULP3_HUMAN	Homo sapiens tubby like protein 3 (TULP3), transcript variant 2, mRNA.	182					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TGATAACCTCCTGGGAGACAT	0.512000														86			38		0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47422304	47422305	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:47422304_47422305CC>TT	uc002zhu.1	+	31	2341_2342	c.2239_2240CC>TT	c.(2239-2241)ccc>TTc	p.P747F	COL6A1_uc002zhv.1_Missense_Mutation_p.P78F	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	747	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCTCTGCAGCCCCGGCATCCAG	0.703000														7			4		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56096685	56096685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56096685G>A	uc001shh.3	-	2	605	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	ITGA7_uc001shg.3_Missense_Mutation_p.R129W|ITGA7_uc010sps.2_Intron|ITGA7_uc009znx.3_Missense_Mutation_p.R16W	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	129					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	p.R129W(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCTGGCTCCGAACACTGACT	0.522000														82			15		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21136605	21136605	+	Missense_Mutation	SNP	C	T	T	rs139455188	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21136605C>T	uc010vbe.2	-	8	1295	c.1295G>A	c.(1294-1296)cGa>cAa	p.R432Q	DNAH3_uc002die.2_Missense_Mutation_p.R403Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	432	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R432Q(3)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCAATGTTTCGACTTGAGTC	0.473000														84			21		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109793637	109793637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:109793637C>T	uc010agk.2	+	31	5699	c.5077C>T	c.(5077-5079)Ccc>Tcc	p.P1693S	MYO16_uc001vqt.1_Missense_Mutation_p.P1671S	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1671					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCTCAGCAGCCCCCTGGACGA	0.672000														16			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13867921	13867921	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13867921G>A	uc003jfd.2	-	24	4057	c.4015C>T	c.(4015-4017)Ctc>Ttc	p.L1339F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1339	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F1338F(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAATCTTGGAGGAATACCTCC	0.448000									Kartagener syndrome					92			39		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144994645	144994645	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144994645G>A	uc003zaf.1	-	31	9925	c.9755C>T	c.(9754-9756)tCc>tTc	p.S3252F	PLEC_uc003zab.1_Missense_Mutation_p.S3115F|PLEC_uc003zac.1_Missense_Mutation_p.S3119F|PLEC_uc003zad.2_Missense_Mutation_p.S3115F|PLEC_uc003zae.1_Missense_Mutation_p.S3083F|PLEC_uc003zag.1_Missense_Mutation_p.S3093F|PLEC_uc003zah.2_Missense_Mutation_p.S3101F|PLEC_uc003zaj.2_Missense_Mutation_p.S3142F	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3252	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGGAACAGGGAGACGCTCTG	0.657000														21			5		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130878039	130878039	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:130878039G>A	uc010fmh.2	-	2	450	c.50C>T	c.(49-51)cCa>cTa	p.P17L		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	17						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GAGACCAAATGGCTTCTTCAC	0.562000														184			18		0	0	1	0	0
RNF141	50862	broad.mit.edu	37	11	10555624	10555624	+	Nonsense_Mutation	SNP	G	A	A	rs144898917		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:10555624G>A	uc001mis.1	-	1	235	c.82C>T	c.(82-84)Cga>Tga	p.R28*	RNF141_uc009yga.1_Non-coding_Transcript	NM_016422	NP_057506	Q8WVD5	RN141_HUMAN	Homo sapiens ring finger protein 141 (RNF141), mRNA.	28							zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		CCACTCTCTCGAACCAACGTA	0.383000														119			58		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049324	36049324	+	Silent	SNP	G	A	A	rs148290056	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:36049324G>A	uc003jjz.2	-	3	642	c.510C>T	c.(508-510)ttC>ttT	p.F170F	UGT3A2_uc011cos.2_Silent_p.F136F|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	170						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAAAGAGCCGAATGAAGTGG	0.453000														63			33		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39425979	39425979	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:39425979G>A	uc001uwv.3	+	10	7208	c.6899G>A	c.(6898-6900)gGa>gAa	p.G2300E	FREM2_uc001uww.3_Missense_Mutation_p.G386E	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2300	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCCACCTCTGGAGAAGACTAC	0.527000														43			17		0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413721	72413721	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:72413721C>T	uc003twk.2	+	10	3189	c.3189C>T	c.(3187-3189)gtC>gtT	p.V1063V	POM121_uc003twj.3_Silent_p.V798V|POM121_uc010lam.1_Silent_p.V798V	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1063	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCACTGCTGTCTTCTTCGGTG	0.662000														60			11		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31282318	31282318	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31282318C>T	uc002ebr.3	+	5	569	c.471C>T	c.(469-471)ggC>ggT	p.G157G	ITGAM_uc002ebq.3_Silent_p.G157G	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	157	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TGATTGATGGCTCTGGTAGCA	0.458000														218			59		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5687648	5687648	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:5687648G>A	uc001qnm.2	-	21	2342	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	762						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CAGGGGAAAGGAGGCCACGAA	0.542000														24			4		0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89521767	89521767	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:89521767G>A	uc001dmx.2	-	7	1520	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	434					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.R434C(2)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		ACAAAGAGACGATAGCCCCCT	0.428000														342			121		0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38040710	38040710	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38040710C>T	uc003ati.3	+	7	1423	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_Missense_Mutation_p.R229C|SH3BP1_uc003ath.1_Missense_Mutation_p.R229C|SH3BP1_uc003atj.1_Missense_Mutation_p.R165C|SH3BP1_uc003atk.1_Missense_Mutation_p.R143C|AK097791_uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	229	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CTACTTCATTCGTGTGAGTCC	0.582000														214			49		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646787	57646787	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57646787G>A	uc002qnz.1	-	4	1304	c.918C>T	c.(916-918)ccC>ccT	p.P306P		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TACATTGAAAGGGTTTTTGTC	0.383000														149			45		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124311371	124311371	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124311371G>A	uc001uft.4	+	23	3988	c.3963G>A	c.(3961-3963)ttG>ttA	p.L1321L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1321	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCTACTACTTGGAAGCAAAAA	0.453000														60			40		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480303	10480303	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10480303C>T	uc003wtc.3	-	1	638	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	137					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)		CCTGGGGCTTCACGCTGGCCT	0.602000														51			25		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41496173	41496173	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41496173C>T	uc002yyq.1	-	19	4097	c.3645G>A	c.(3643-3645)ctG>ctA	p.L1215L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1215	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGATGCCGTTCAGCTTGAGAG	0.567000														156			23		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152708338	152708338	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:152708338G>A	uc021zhb.1	-	51	8579	c.8356C>T	c.(8356-8358)Cac>Tac	p.H2786Y	SYNE1_uc003qot.4_Missense_Mutation_p.H2793Y|SYNE1_uc003qou.4_Missense_Mutation_p.H2786Y|SYNE1_uc010kjb.1_Missense_Mutation_p.H2769Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2786					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCTCGTGTGATCTTCTGCC	0.493000										HNSCC(10;0.0054)				76			47		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62542622	62542622	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:62542622C>T	uc010ihh.3	+	2	521	c.348C>T	c.(346-348)taC>taT	p.Y116Y	LPHN3_uc003hcq.4_Silent_p.Y116Y|LPHN3_uc010ihg.1_Silent_p.Y184Y	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	116	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCTATAAATACCTTGAAGTGC	0.398000														194			47		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256738	240256738	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240256738C>T	uc010pye.2	+	0	1554	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	FMN2_uc010pyd.2_Silent_p.I443I	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	443					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCCCCAGGATCAAGAGGCGGC	0.682000														95			17		0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39824183	39824183	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:39824183C>T	uc003axt.3	+	9	1351	c.1302C>T	c.(1300-1302)ctC>ctT	p.L434L	TAB1_uc003axr.3_Silent_p.L510L|TAB1_uc011aok.2_Silent_p.L268L|TAB1_uc003axu.1_Silent_p.L434L	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	434					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|activation of MAPKKK 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	catalytic activity|protein binding	p.T433fs*9(1)|p.T433I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CCCCCACCCTCACCAAGTAAG	0.637000														50			14		0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27499923	27499923	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:27499923G>A	uc001itr.1	-	8	1111	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	ACBD5_uc010qdm.2_Missense_Mutation_p.R340C|ACBD5_uc010qdn.2_Missense_Mutation_p.R233C|ACBD5_uc010qdo.2_Missense_Mutation_p.R165C|ACBD5_uc010qdp.2_Missense_Mutation_p.R342C|ACBD5_uc001ito.3_Missense_Mutation_p.R307C|ACBD5_uc001itp.3_Missense_Mutation_p.R233C|ACBD5_uc001itq.3_Missense_Mutation_p.R233C			Q5T8D3	ACBD5_HUMAN	Homo sapiens acyl-CoA binding domain containing 5 (ACBD5), transcript variant 3, non-coding RNA.	351					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	p.R307C(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATATCTTCACGAAATCCAGAA	0.418000														169			67		0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17318747	17318748	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17318747_17318748GG>AA	uc001baa.2	-	17	2185_2186	c.1995_1996CC>TT	c.(1993-1998)aacccc>aaTTcc	p.P666S	ATP13A2_uc001bac.2_Missense_Mutation_p.P661S|ATP13A2_uc001bab.2_Missense_Mutation_p.P661S	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	666					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCTGTCTCGGGGTTGCAGAGCC	0.673000														25			16		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536242	90536242	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90536242G>A	uc010mqi.3	+	3	1449	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N	FAM75C1_uc004apq.4_Missense_Mutation_p.D457N	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		AGAGTCTCTGGATCTGATGCA	0.537000														62			17		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716446	142716446	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:142716446C>T	uc022cfm.1	-	0	2479	c.2479G>A	c.(2479-2481)Gtc>Atc	p.V827I	SLITRK4_uc022cfl.1_Missense_Mutation_p.V827I|SLITRK4_uc004fbx.3_Missense_Mutation_p.V827I|SLITRK4_uc004fby.3_Missense_Mutation_p.V827I	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	827						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAAGGACCTGTAGGTAG	0.403000														24			36		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48338023	48338023	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48338023C>T	uc003toq.2	+	22	9284	c.9260C>T	c.(9259-9261)tCc>tTc	p.S3087F	ABCA13_uc010kys.1_Missense_Mutation_p.S161F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3087					transport	integral to membrane	ATP binding|ATPase activity	p.A3087A(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTCGCTCTTCCATCCAAATC	0.368000														32			23		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32181595	32181595	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32181595C>T	uc003obb.3	-	13	2329	c.2190G>A	c.(2188-2190)atG>atA	p.M730I	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	730	EGF-like 19.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GACAAGCTGTCATCTCCTCAC	0.597000														38			15		0	0	1	0	0
FAM81B	153643	broad.mit.edu	37	5	94772575	94772575	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:94772575G>A	uc003kla.1	+	6	904	c.858G>A	c.(856-858)ggG>ggA	p.G286G	FAM81B_uc010jbe.1_Silent_p.G82G	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	286										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TGGTCCAGGGGGATTATCGCC	0.398000														50			18		0	0	1	0	0
GLB1L	79411	broad.mit.edu	37	2	220107272	220107272	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220107272G>A	uc002vkm.3	-	4	654	c.415C>T	c.(415-417)Cga>Tga	p.R139*	GLB1L_uc002vkk.3_5'Flank|GLB1L_uc010zkx.2_Nonsense_Mutation_p.R139*|GLB1L_uc002vkn.3_Nonsense_Mutation_p.R139*|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.2_5'Flank|STK16_uc010fwf.3_5'Flank|STK16_uc002vkp.2_5'Flank	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	139					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.R139Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGGTTTTCGAAGCAACCAG	0.443000														105			48		0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36370056	36370056	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36370056C>T	uc002oce.3	+	15	1929	c.1791C>T	c.(1789-1791)gtC>gtT	p.V597V	APLP1_uc010xsz.2_Silent_p.V558V|APLP1_uc002ocf.3_Silent_p.V598V|APLP1_uc002ocg.3_Silent_p.V501V|APLP1_uc010xta.2_Silent_p.V591V	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	597					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	p.L596H(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTCATCGTCCTCTCCATGC	0.642000														46			27		0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66479913	66479913	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:66479913C>T	uc003juy.2	-	2	906	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	253					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	p.L252L(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CTCAAATGTTCCCAGCCAGAG	0.438000														60			26		0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239010666	239010666	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:239010666G>A	uc002vxq.4	+	1	489	c.379G>A	c.(379-381)Ggc>Agc	p.G127S		NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	127										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTCCACGAGGGCCACTCGGC	0.701000														17			3		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6267018	6267018	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:6267018C>T	uc003mwv.3	-	3	467	c.344G>A	c.(343-345)gGa>gAa	p.G115E	F13A1_uc011dib.2_Missense_Mutation_p.G52E	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	115					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GATGTAGGTTCCCTTGTTCTC	0.463000														124			59		0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149075934	149075934	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:149075934G>A	uc003ilj.4	-	4	2496	c.2133C>T	c.(2131-2133)atC>atT	p.I711I	NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	711	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.I711S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTGCAGGAGCGATGTACGTTG	0.577000														102			45		0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15480430	15480430	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:15480430G>A	uc002wou.3	+	7	847	c.583G>A	c.(583-585)Gag>Aag	p.E195K	MACROD2_uc002wot.3_Missense_Mutation_p.E195K|MACROD2_uc002woz.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	195	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTTTCCCAACGAGCCTGCTGC	0.443000														54			22		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97658696	97658696	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:97658696C>T	uc001drv.3	-	19	2688	c.2551G>A	c.(2551-2553)Gga>Aga	p.G851R		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	851					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GGACTCTGTCCATCCCAGTCT	0.448000														62			32		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100821706	100821706	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:100821706G>A	uc003yiv.3	+	43	8231	c.8120G>A	c.(8119-8121)cGa>cAa	p.R2707Q	VPS13B_uc003yiw.3_Missense_Mutation_p.R2682Q	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2707					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)			TACAGGGGTCGAACTGCTTCT	0.438000														59			37		0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211264	59211264	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59211264C>T	uc001nnx.1	+	0	623	c.623C>T	c.(622-624)aCt>aTt	p.T208I		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTGGTGGTCACTGTCGGAGGA	0.527000														144			47		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	23264783	23264783	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:23264783C>T	uc021wml.1	+	445		c.18252C>T								Parts of antibodies, mostly variable regions.																		CAAGGCTGCCCCCTCGGTCAC	0.622000														60			17		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596500	11596500	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11596500C>T	uc001ash.4	+	20	4074	c.3936C>T	c.(3934-3936)atC>atT	p.I1312I		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1312					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)		TCTGCATCATCGCCCCATTTG	0.637000														69			27		0	0	1	0	0
PDZK1IP1	10158	broad.mit.edu	37	1	47653014	47653014	+	Silent	SNP	G	A	A	rs17850898		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47653014G>A	uc001cqw.3	-	1	320	c.153C>T	c.(151-153)aaC>aaT	p.N51N		NM_005764	NP_005755	Q13113	PDZ1I_HUMAN	Homo sapiens PDZK1 interacting protein 1 (PDZK1IP1), mRNA.	51				N -> K (in Ref. 5; AAH12303).		integral to membrane				endometrium(1)|lung(1)|prostate(1)	3						ACCAGAAGTGGTTGACTGCAA	0.612000														38			14		0	0	1	0	0
NPBWR1	2831	broad.mit.edu	37	8	53852583	53852583	+	Missense_Mutation	SNP	C	T	T	rs145057890		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:53852583C>T	uc011ldu.2	+	0	116	c.116C>T	c.(115-117)gCt>gTt	p.A39V		NM_005285	NP_005276	P48145	NPBW1_HUMAN	Homo sapiens neuropeptides B/W receptor 1 (NPBWR1), mRNA.	39					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CTGGCGGTGGCTGTACCAGTT	0.716000														22			11		0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865121	118865121	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:118865121G>A	uc003ecb.1	+	0	125	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.G29S	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	29								p.G29G(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CCACACTAAGGGCCAGGAAGA	0.567000														36			15		0	0	1	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292806	4292806	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4292806C>T	uc002lzx.2	-	4	685	c.639G>A	c.(637-639)ggG>ggA	p.G213G	TMIGD2_uc021umz.1_Missense_Mutation_p.G97E|TMIGD2_uc021una.1_Missense_Mutation_p.G45E|TMIGD2_uc010dtv.2_Silent_p.G209G	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	213						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGGTCCTTCCCCTCTCCAG	0.622000														105			8		0	0	1	0	0
RNF175	285533	broad.mit.edu	37	4	154633721	154633721	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:154633721C>T	uc003int.3	-	7	1145	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K		NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	Homo sapiens ring finger protein 175 (RNF175), mRNA.	258						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				ATGCAGAATTCATGAAAGCTG	0.438000														20			3		0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113698904	113698904	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:113698904C>T	uc003kqo.3	+	0	889	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	144						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TCGGCATGTTCGGCATCGTGG	0.612000														37			9		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156812901	156812901	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156812901G>A	uc010pht.2	-	16	3320	c.3021C>T	c.(3019-3021)tcC>tcT	p.S1007S	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1007	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCACGGGTGTGGACTCCTCTC	0.572000														52			16		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93104242	93104242	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:93104242A>T	uc001pdq.3	+	6	685	c.585A>T	c.(583-585)aaA>aaT	p.K195N	CCDC67_uc001pdo.1_Missense_Mutation_p.K195N|CCDC67_uc001pdp.3_Missense_Mutation_p.K195N	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	195										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TAAATGGTAAAAAACAGTGCT	0.328000														21			15		0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118588247	118588247	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:118588247C>T	uc003pxx.4	+	3	768	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	189					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCATCGGCATCGTTGTCTGCA	0.532000														160			94		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872953	55872953	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55872953C>T	uc010riy.2	+	0	435	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TCGCTCTCATCACTGGGCCTT	0.448000										HNSCC(53;0.14)				199			71		0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41137716	41137716	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41137716G>A	uc002yyo.3	+	2	458	c.355G>A	c.(355-357)Ggg>Agg	p.G119R		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	119	Ig-like V-type 1.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CAGTGATTCGGGGAACATCAG	0.542000														21			15		0	0	1	0	0
PDLIM4	8572	broad.mit.edu	37	5	131607227	131607227	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:131607227G>A	uc003kwo.3	+	4	815	c.738G>A	c.(736-738)gcG>gcA	p.A246A	BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Intron|PDLIM4_uc003kwp.3_Intron	NM_003687	NP_003678	P50479	PDLI4_HUMAN	Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA.	0							protein binding|zinc ion binding	p.P245P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCCCCTAGCGACCCCACGTC	0.677000														11			10		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167060643	167060643	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:167060643C>T	uc010fpl.3	-	25	4904	c.4563G>A	c.(4561-4563)atG>atA	p.M1521I	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1532						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTTCTACCATCATGGTTACCA	0.343000														53			12		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11631223	11631223	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11631223C>T	uc002gne.3	+	27	5866	c.5798C>T	c.(5797-5799)tCa>tTa	p.S1933L	DNAH9_uc010coo.3_Missense_Mutation_p.S1227L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1933	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L1932*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGGTCTTGTCAGTGGTGGCA	0.493000														20			19		0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31652321	31652321	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31652321C>T	uc002wym.1	+	6	711	c.711C>T	c.(709-711)ctC>ctT	p.L237L		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	237	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										CATTGCCTCTCATCTCCAACC	0.587000														44			11		0	0	1	0	0
ANKRD13B	124930	broad.mit.edu	37	17	27935057	27935057	+	Missense_Mutation	SNP	C	T	T	rs148007819		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:27935057C>T	uc002hei.3	+	2	417	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	ANKRD13B_uc002heh.3_Intron|ANKRD13B_uc002hej.3_Non-coding_Transcript	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	Homo sapiens ankyrin repeat domain 13B (ANKRD13B), mRNA.	102										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						GCTGGTGCTTCGGTACCGGGA	0.682000														21			14		0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	110053528	110053528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:110053528C>T	uc010ywt.1	+	6	1754	c.1754C>T	c.(1753-1755)tCg>tTg	p.S585L		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	585							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CCCACAGCCTCGCCCCCAACA	0.682000														28			11		0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48626319	48626319	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48626319C>T	uc002ird.3	+	4	651	c.510C>T	c.(508-510)ttC>ttT	p.F170F	SPATA20_uc002irc.3_5'UTR|SPATA20_uc002ire.3_Silent_p.F110F|SPATA20_uc002irf.3_Silent_p.F154F|SPATA20_uc010wmv.1_Silent_p.F154F|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	154					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			ACATGACGTTCGTGCAGGTGA	0.627000														41			12		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24473886	24473886	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:24473886G>A	uc003ned.1	-	5	562	c.451C>T	c.(451-453)Cac>Tac	p.H151Y	GPLD1_uc010jpr.1_Intron|GPLD1_uc010jps.1_Missense_Mutation_p.H151Y|GPLD1_uc003nee.3_Missense_Mutation_p.H151Y	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	151						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TAGGAGCCGTGAAAATCAATC	0.398000														24			7		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38750779	38750779	+	Splice_Site	SNP	G	A	A	rs35125773		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38750779G>A	uc021yzh.1	+	17	2369	c.2260_splice	c.e17-1	p.K754_splice	DNAH8_uc003ooe.2_Splice_Site_p.K537_splice	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TAAAAAAACAGAAAAACTCAG	0.323000														52			17		0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101765751	101765751	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:101765751G>A	uc001pgl.3	-	7	1302	c.706C>T	c.(706-708)Cag>Tag	p.Q236*		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	236	Fibrinogen C-terminal.				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)		GTATTTTTCTGATTTACTATA	0.284000														55			16		0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51224954	51224954	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:51224954G>A	uc001wyi.3	-	17	2985	c.2794C>T	c.(2794-2796)Ctg>Ttg	p.L932L	NIN_uc001wyj.3_Intron|NIN_uc001wym.2_Silent_p.L932L|NIN_uc001wyk.3_Intron|NIN_uc001wyo.3_Silent_p.L932L	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	932					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCAGACAGCAGGCTTTGCTGG	0.517000			T	PDGFRB	MPD									124			49		0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357408	118357408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:118357408G>A	uc001lco.1	+	6	661	c.643G>A	c.(643-645)Gac>Aac	p.D215N	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.D215N|PNLIPRP1_uc009xys.1_Non-coding_Transcript	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	215					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CTCTGATGCTGACTTTGTTGA	0.478000														68			32		0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77715711	77715711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:77715711G>A	uc001xtf.2	+	20	2160	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K	TMEM63C_uc010asq.1_Missense_Mutation_p.E650K	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	650						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CAAACTGAACGAGCAGATCCA	0.532000														75			31		0	0	1	0	0
VSIG10	54621	broad.mit.edu	37	12	118520021	118520021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:118520021G>A	uc001tws.3	-	2	909	c.575C>T	c.(574-576)tCg>tTg	p.S192L		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	192	Ig-like C2-type 2.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GAGGTTTGGCGATATCAGTAA	0.517000														76			20		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189065004	189065004	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:189065004G>A	uc003izm.1	+	3	863	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	TRIML1_uc003izn.1_5'UTR	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	250					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGTGAGAGGAGCCCTGGAAAG	0.478000														193			69		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304663	10304663	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10304663G>A	uc002gmm.2	-	23	3132	c.3037C>T	c.(3037-3039)Ctg>Ttg	p.L1013L	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1013					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTGCCTGCAGGTCATCCAGG	0.458000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					119			86		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89938713	89938713	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89938713G>A	uc003kju.3	+	12	2504	c.2408G>A	c.(2407-2409)gGg>gAg	p.G803E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	803					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CGATCAAGGGGGTCCCTTGTT	0.408000														107			40		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96055276	96055276	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:96055276C>T	uc004ati.1	+	22	5640	c.5640C>T	c.(5638-5640)ttC>ttT	p.F1880F	WNK2_uc011lud.1_Silent_p.F1843F|WNK2_uc004atj.3_Silent_p.F1843F|WNK2_uc004atk.3_Silent_p.F1480F|WNK2_uc004atl.1_Silent_p.F437F	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1880					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCACCGCCTTCCTGCAGAGGC	0.692000														20			8		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70550872	70550872	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:70550872C>T	uc003xyg.2	+	18	2981	c.2420C>T	c.(2419-2421)cCt>cTt	p.P807L	SULF1_uc010lza.1_Missense_Mutation_p.P807L|SULF1_uc003xyd.2_Missense_Mutation_p.P807L|SULF1_uc003xye.2_Missense_Mutation_p.P807L|SULF1_uc003xyf.2_Missense_Mutation_p.P807L|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_Intron|SULF1_uc003xyj.1_5'UTR	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	807					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)			AATACAGATCCTTATCAGGTA	0.348000														107			10		0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107517425	107517425	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:107517425C>T	uc010hpr.3	+	15	2736	c.2409C>T	c.(2407-2409)atC>atT	p.I803I	BBX_uc003dwk.4_Silent_p.I773I|BBX_uc003dwl.4_Missense_Mutation_p.S467F|BBX_uc003dwm.4_Silent_p.I773I|BBX_uc003dwo.4_Missense_Mutation_p.S123F	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	803					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TTAAAAATATCCCATCCATTT	0.403000														79			26		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62763514	62763514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62763514C>T	uc009yon.3	-	5	993	c.872G>A	c.(871-873)aGg>aAg	p.R291K	SLC22A8_uc001nwn.1_Missense_Mutation_p.R82K|SLC22A8_uc009yom.3_Missense_Mutation_p.R168K|SLC22A8_uc001nwo.3_Missense_Mutation_p.R291K|SLC22A8_uc010rmm.2_Missense_Mutation_p.R200K|SLC22A8_uc001nwp.2_Missense_Mutation_p.R291K	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	291					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CAAGCTGAGCCTTTCTCCCTC	0.587000														127			10		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134968304	134968304	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:134968304C>T	uc003eqt.3	+	14	3192	c.2817C>T	c.(2815-2817)tcC>tcT	p.S939S	EPHB1_uc003equ.3_Silent_p.S500S	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	939	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCTTCACCTCCCTCCAGCTGG	0.552000														78			23		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74975996	74975996	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:74975996G>A	uc001xqa.3	-	21	3735	c.3348C>T	c.(3346-3348)tcC>tcT	p.S1116S		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1116	Cys-rich.|EGF-like 10; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGTCCTTGCAGGAGAAGGAGC	0.642000														100			31		0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1536177	1536177	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1536177G>A	uc010uvf.2	-	2	1185	c.1185C>T	c.(1183-1185)tcC>tcT	p.S395S		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	400	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCAGCACGAGGGACCCTCCGG	0.682000														35			14		0	0	1	0	0
BDKRB1	623	broad.mit.edu	37	14	96730673	96730673	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:96730673C>T	uc021sbj.1	+	0	654	c.654C>T	c.(652-654)atC>atT	p.I218I	BDKRB1_uc001yfh.3_Silent_p.I218I	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	218					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TGGCTGCGATCGTCTTCTTCA	0.582000														48			14		0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37299050	37299050	+	Missense_Mutation	SNP	G	A	A	rs146473381		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:37299050G>A	uc003jku.1	-	31	3831	c.3713C>T	c.(3712-3714)tCg>tTg	p.S1238L	NUP155_uc003jkt.1_Missense_Mutation_p.S1179L|NUP155_uc010iuz.1_Missense_Mutation_p.S1174L	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	1238					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATTCTATCCGAGGAGCTCAA	0.373000														50			5		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38830525	38830525	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38830525C>T	uc003ciq.3	-	2	392	c.392G>A	c.(391-393)tGg>tAg	p.W131*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	131					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TAAACTGAACCACCTGAAAGG	0.383000														28			13		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539234	55539234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55539234C>T	uc003xsd.1	+	3	2940	c.2792C>T	c.(2791-2793)cCt>cTt	p.P931L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	931					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTTTAAAGCCTATAAAATCA	0.323000														45			15		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87615822	87615822	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:87615822C>T	uc001kdl.1	-	6	1178	c.1077G>A	c.(1075-1077)tgG>tgA	p.W359*	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	359						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.W359*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCCCACCATTCCATGGCTTAG	0.552000										Multiple Myeloma(13;0.14)				98			10		0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423832	33423832	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33423832G>A	uc003oeq.3	+	1	1223	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	ZBTB9_uc021ywp.1_Missense_Mutation_p.E319K	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.	319	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						AGGGGACACTGAAGGGAATGG	0.547000														96			15		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31374055	31374056	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31374055_31374056CC>TT	uc002ebt.3	+	11	1407_1408	c.1340_1341CC>TT	c.(1339-1341)gcc>gTT	p.A447V	ITGAX_uc002ebu.1_Missense_Mutation_p.A447V|ITGAX_uc010vfk.1_Missense_Mutation_p.A97V	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	447					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGGATGAAGGCCGAAGTCACGG	0.649000														35			12		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44815231	44815231	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44815231G>A	uc002xrm.2	-	8	2058	c.1659C>T	c.(1657-1659)atC>atT	p.I553I	CDH22_uc010ghk.1_Silent_p.I553I	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	553	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCTCACCTTGGATGTCAAGCA	0.597000														63			21		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385135	41385135	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41385135G>A	uc002yyq.1	-	32	6317	c.5865C>T	c.(5863-5865)tcC>tcT	p.S1955S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1955				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCTCGTGGAGGAGGCGGAGG	0.637000														13			23		0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54418878	54418878	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:54418878C>T	uc001xal.4	-	1	250	c.63G>A	c.(61-63)gcG>gcA	p.A21A	BMP4_uc010aoh.3_Silent_p.A21A|BMP4_uc001xao.4_Silent_p.A21A|BMP4_uc001xan.4_Silent_p.A21A	NM_130851	NP_570912	P12644	BMP4_HUMAN	Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 3, mRNA.	21					BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|SMAD protein signal transduction|activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of MAP kinase activity|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of SMAD protein import into nucleus|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TAGCATGGCTCGCGCCTCCTA	0.567000														64			23		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62547881	62547881	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:62547881G>A	uc001xfu.1	+	3	1520	c.1323G>A	c.(1321-1323)cgG>cgA	p.R441R	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	441	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACGCTGCCCGGAAGATGACCC	0.567000														31			11		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49688113	49688113	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49688113C>T	uc003cxe.4	+	3	1701	c.1587C>T	c.(1585-1587)acC>acT	p.T529T		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	529					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAGAGCCGACCCCCCTGCCGC	0.627000														161			72		0	0	1	0	0
C19orf21	126353	broad.mit.edu	37	19	757826	757826	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:757826G>A	uc002lpo.3	+	1	963	c.880G>A	c.(880-882)Gag>Aag	p.E294K		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	294										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACGCCCATCGAGCGGGAGAT	0.667000														66			9		0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45817280	45817280	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:45817280G>A	uc011bai.2	-	3	679	c.555C>T	c.(553-555)atC>atT	p.I185I	SLC6A20_uc011baj.2_Silent_p.I185I	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	185					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TGCCACGCAGGATGCACAGGT	0.657000														73			31		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842627	123842627	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:123842627C>T	uc001lfv.3	+	3	972	c.612C>T	c.(610-612)ccC>ccT	p.P204P	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.P204P|TACC2_uc010qtv.2_Silent_p.P204P	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	204						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)				CGCCAGTACCCCTCAGAGAGC	0.582000														46			4		0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100708387	100708387	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:100708387C>T	uc001thn.3	+	7	1140	c.1090C>T	c.(1090-1092)Ccc>Tcc	p.P364S	SCYL2_uc009ztw.1_Missense_Mutation_p.P191S|SCYL2_uc001thm.1_Missense_Mutation_p.P364S	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	364					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ACCAAAACTGCCCAAGGTTTG	0.303000														59			9		0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127549481	127549481	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:127549481G>A	uc004bov.3	+	1	431	c.318G>A	c.(316-318)atG>atA	p.M106I	OLFML2A_uc010mwr.1_Missense_Mutation_p.M106I	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	106										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						AGTGGAAGATGGAGAAACTCA	0.587000														46			22		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70991123	70991123	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:70991123G>A	uc003pfg.4	-	7	1005	c.846C>T	c.(844-846)ccC>ccT	p.P282P	COL9A1_uc003pfe.4_5'Flank|COL9A1_uc003pff.4_Silent_p.P39P	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	282	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.G281V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GAACTCCAGGGGGGCCCGGAG	0.592000														17			20		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273996	10273996	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:10273996G>A	uc010uym.2	-	2	583	c.273C>T	c.(271-273)tcC>tcT	p.S91S	GRIN2A_uc002czo.4_Silent_p.S91S|GRIN2A_uc002czr.4_Silent_p.S91S|GRIN2A_uc010buk.3_Silent_p.S91S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	91					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGCGTGCCCCGGACATGAGGT	0.637000														110			27		0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18152803	18152804	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:18152803_18152804CC>TT	uc001bat.3	+	2	1106_1107	c.890_891CC>TT	c.(889-891)gcc>gTT	p.A297V		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	297						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CACGTGATGGCCTGCGGGGGCA	0.649000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			22		0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148792128	148792128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:148792128G>A	uc003ewq.1	-	3	621	c.403C>T	c.(403-405)Cct>Tct	p.P135S	HLTF_uc003ewr.1_Missense_Mutation_p.P135S|HLTF_uc003ews.1_Missense_Mutation_p.P135S|HLTF_uc010hve.1_Missense_Mutation_p.P135S	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	135					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GCACCAAAAGGAACTACCCTA	0.338000														64			23		0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33944535	33944535	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:33944535G>A	uc003ztq.1	-	13	1486	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	UBAP2_uc011loc.1_Missense_Mutation_p.S367F|UBAP2_uc011lod.1_Missense_Mutation_p.S191F|UBAP2_uc011loe.1_Missense_Mutation_p.S213F|UBAP2_uc011lof.1_Missense_Mutation_p.S383F|UBAP2_uc011log.1_Missense_Mutation_p.S404F|UBAP2_uc003ztr.2_Missense_Mutation_p.S330F|UBAP2_uc003zts.3_Missense_Mutation_p.S91F	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	458										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GGAAGGAAAGGACTCCAAACC	0.512000														38			20		0	0	1	0	0
BASP1	10409	broad.mit.edu	37	5	17275909	17275909	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:17275909C>T	uc003jfx.3	+	1	763	c.584C>T	c.(583-585)tCc>tTc	p.S195F	BASP1_uc021xws.1_Missense_Mutation_p.S195F	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	195					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	p.S194I(1)		endometrium(1)|lung(8)	9						GCGCCTAGTTCCACACCCAAG	0.642000														40			5		0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46946318	46946318	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:46946318G>A	uc010acl.3	-	2	898	c.293C>T	c.(292-294)tCc>tTc	p.S98F	KIAA0226L_uc001vbf.4_Missense_Mutation_p.S31F|KIAA0226L_uc010tfz.2_Intron|KIAA0226L_uc010acn.3_Intron|KIAA0226L_uc010acm.3_5'UTR|KIAA0226L_uc001vbe.4_Missense_Mutation_p.S98F|KIAA0226L_uc001vbh.4_Missense_Mutation_p.S98F|KIAA0226L_uc001vbi.4_Intron|KIAA0226L_uc010aco.1_Missense_Mutation_p.S98F	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	98	Ser-rich.									NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CTCTGCCAGGGAGTCCCCGAG	0.572000														61			31		0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41804342	41804342	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:41804342C>T	uc001zoa.3	-	3	659	c.481G>A	c.(481-483)Ggg>Agg	p.G161R	LTK_uc001zob.3_Missense_Mutation_p.G161R|LTK_uc010ucx.1_Missense_Mutation_p.G161R|LTK_uc010bcg.2_Intron	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	161					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CCCTGCTGCCCCACCAGGATG	0.726000										TSP Lung(18;0.14)				29			10		0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204124271	204124271	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204124271G>A	uc001haq.2	-	9	1138	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	ETNK2_uc001hao.4_5'Flank|ETNK2_uc001han.4_5'Flank|ETNK2_uc010pqs.2_5'Flank|ETNK2_uc010pqt.2_5'Flank	NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	365					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGCGTGGATGGCCAGTGTGCA	0.552000														57			28		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599464	179599464	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179599464C>T	uc021vsy.1	-	47	11680	c.11455G>A	c.(11455-11457)Gat>Aat	p.D3819N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D480N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4746							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)			CTGCAGCTATCACTGCCGACG	0.353000														146			40		0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46328540	46328540	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46328540G>A	uc002pdn.3	-	17	2624	c.2379C>T	c.(2377-2379)ctC>ctT	p.L793L	SYMPK_uc002pdo.1_Silent_p.L793L|SYMPK_uc002pdp.1_Silent_p.L793L	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	793					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGGCCAGGTAGAGGTACAGAC	0.612000														44			12		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827076	96827076	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96827076G>A	uc001kkb.3	-	2	465	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	CYP2C8_uc010qoa.2_Missense_Mutation_p.R54W|CYP2C8_uc010qoc.2_Missense_Mutation_p.R22W|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.R38W|CYP2C8_uc021pwl.1_Missense_Mutation_p.R54W|CYP2C8_uc010qod.1_Missense_Mutation_p.R38W	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	124					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GAGAAACGCCGGATCTCCTTC	0.488000														105			37		0	0	1	0	0
ECSIT	51295	broad.mit.edu	37	19	11624842	11624842	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11624842C>T	uc002msb.3	-	2	425	c.291G>A	c.(289-291)gcG>gcA	p.A97A	ECSIT_uc010dyc.2_Silent_p.A97A|ECSIT_uc010dyd.3_Silent_p.A97A|ECSIT_uc010xma.2_Intron	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	97					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CGCTGTGCTCCGCAAATTTCT	0.622000														58			18		0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724262	38724262	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:38724262C>T	uc001wum.1	-	0	1313	c.966G>A	c.(964-966)agG>agA	p.R322R		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	322						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	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;0.00439)		TCTCGTCGACCCTGATTGGCC	0.607000														119			44		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142446126	142446126	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:142446126C>A	uc003ywi.2	-	26	3520	c.3439G>T	c.(3439-3441)Gac>Tac	p.D1147Y	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	1148							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCCACCAGGTCCCCGAACAGT	0.677000														35			7		0.000157383	0.000157578	1	1	0
TCN1	6947	broad.mit.edu	37	11	59630139	59630139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59630139G>A	uc001noj.2	-	2	414	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	106					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAGCGTTACGACATACTCCC	0.358000														106			33		0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152695833	152695833	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152695833G>A	uc002tya.3	-	13	1431	c.1363C>T	c.(1363-1365)Cta>Tta	p.L455L	CACNB4_uc002txy.3_Silent_p.L421L|CACNB4_uc002txz.3_Silent_p.L437L|CACNB4_uc010fnz.3_Silent_p.L393L	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	455					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	GAGGTCATTAGACTTCGTCTT	0.418000														103			46		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104044065	104044065	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:104044065G>A	uc003hxb.1	-	42	7196	c.7106C>T	c.(7105-7107)cCt>cTt	p.P2369L	CENPE_uc003hxc.1_Missense_Mutation_p.P2248L	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	2369	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTAACATGAGGATTCTTATT	0.343000														130			33		0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118166571	118166571	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:118166571C>T	uc021osq.1	+	0	1081	c.1081C>T	c.(1081-1083)Cct>Tct	p.P361S	FAM46C_uc001ehe.3_Missense_Mutation_p.P361S	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	361										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CCAGCCGGCCCCTTACGTCAG	0.562000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				40			7		0	0	1	0	0
VTCN1	79679	broad.mit.edu	37	1	117699466	117699466	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:117699466C>T	uc001ehb.3	-	2	280	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	VTCN1_uc021osn.1_5'UTR|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_5'UTR|VTCN1_uc009whf.2_Intron	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	59	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		ATGTCAGGTTCAAAAGTGCAG	0.478000														81			22		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48602556	48602556	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48602556G>A	uc003ctz.2	-	115	8607	c.8606C>T	c.(8605-8607)cCt>cTt	p.P2869L	UCN2_uc003cty.1_5'Flank|UCN2_uc021wxo.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2869	Nonhelical region (NC2).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTATCCCAAGGAGCTTCAGG	0.612000														32			5		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31294508	31294509	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:31294508_31294509GG>AA	uc021sia.1	-	26	4759_4760	c.4445_4446CC>TT	c.(4444-4446)tcc>tTT	p.S1482F	TRPM1_uc010azy.3_Missense_Mutation_p.S1350F|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.S1465F|TRPM1_uc001zfm.3_Missense_Mutation_p.S1443F	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1443					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTCTTCCCCGGGAATAGACGAA	0.450000														86			46		0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10279981	10279981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:10279981G>A	uc002wnq.2	+	6	685	c.473G>A	c.(472-474)gGg>gAg	p.G158E	SNAP25_uc002wnr.2_Missense_Mutation_p.G158E|SNAP25_uc002wns.2_Missense_Mutation_p.G95E|SNAP25_uc010gca.2_Missense_Mutation_p.G158E	NM_130811	NP_570824	P60880	SNP25_HUMAN	Homo sapiens synaptosomal-associated protein, 25kDa (SNAP25), transcript variant 2, mRNA.	158	t-SNARE coiled-coil homology 2.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GGCATCATCGGGAACCTCCGT	0.502000														141			38		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1208909	1208909	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1208909C>T	uc003jbw.4	+	1	307	c.251C>T	c.(250-252)cCc>cTc	p.P84L		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	84					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GAGGGCATCCCCCTGCTGTAC	0.667000														106			29		0	0	1	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77317640	77317640	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:77317640C>T	uc002bcf.2	+	3	678	c.228C>T	c.(226-228)tcC>tcT	p.S76S	PSTPIP1_uc010bkt.1_Non-coding_Transcript|PSTPIP1_uc010umo.1_5'UTR|PSTPIP1_uc010bku.1_Silent_p.S67S|PSTPIP1_uc010bkv.1_Non-coding_Transcript|PSTPIP1_uc010bkw.1_Silent_p.S76S	NM_003978	NP_003969	O43586	PPIP1_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1), mRNA.	76	FCH.				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TGAGGGCCTCCTTTGACTCCT	0.617000														98			31		0	0	1	0	0
MTERFD1	51001	broad.mit.edu	37	8	97258141	97258141	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:97258141G>A	uc003yhs.1	-	5	922	c.844C>T	c.(844-846)Cgt>Tgt	p.R282C	MTERFD1_uc003yhr.1_Missense_Mutation_p.R161C|MTERFD1_uc010mbd.1_Missense_Mutation_p.R282C	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA.	282					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					CTTGGGAGACGAACTACCAGA	0.363000														88			25		0	0	1	0	0
FAM76B	143684	broad.mit.edu	37	11	95521709	95521709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:95521709G>A	uc001pfn.2	-	1	418	c.106C>T	c.(106-108)Cct>Tct	p.P36S	CEP57_uc001pfo.2_5'Flank|CEP57_uc009ywn.2_5'Flank|CEP57_uc010ruh.2_5'Flank|CEP57_uc001pfp.2_5'Flank|CEP57_uc001pfq.2_5'Flank|CEP57_uc001pfr.2_5'Flank|FAM76B_uc001pfm.2_Non-coding_Transcript	NM_144664	NP_653265	Q5HYJ3	FA76B_HUMAN	Homo sapiens family with sequence similarity 76, member B (FAM76B), mRNA.	36										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTACAATAGGATGTGCAATC	0.343000														59			9		0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39895244	39895244	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:39895244G>A	uc003opb.3	-	0	212	c.74C>T	c.(73-75)tCc>tTc	p.S25F	MOCS1_uc003opa.3_Missense_Mutation_p.S25F|MOCS1_uc003opd.3_Intron|MOCS1_uc003ope.3_Intron	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	24	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACCGGGCTGGGAAGAGGCACA	0.632000														13			9		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31697609	31697609	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:31697609C>T	uc004dda.1	-	52	7999	c.7755G>A	c.(7753-7755)tgG>tgA	p.W2585*	DMD_uc004dcr.1_Nonsense_Mutation_p.W125*|DMD_uc004dcs.1_Nonsense_Mutation_p.W125*|DMD_uc004dct.1_Nonsense_Mutation_p.W125*|DMD_uc004dcu.1_Nonsense_Mutation_p.W125*|DMD_uc004dcv.1_Nonsense_Mutation_p.W125*|DMD_uc004dcw.2_Nonsense_Mutation_p.W1241*|DMD_uc004dcx.2_Nonsense_Mutation_p.W1244*|DMD_uc004dcz.2_Nonsense_Mutation_p.W2462*|DMD_uc004dcy.1_Nonsense_Mutation_p.W2581*|DMD_uc004ddb.1_Nonsense_Mutation_p.W2577*|JA202363_uc022bun.1_5'Flank	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2585					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)				TAGCTTCCAGCCATTGTGTTG	0.443000														16			20		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200877935	200877935	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:200877935G>A	uc001gvo.3	+	6	949	c.907G>A	c.(907-909)Ggt>Agt	p.G303S	C1orf106_uc010ppm.2_Missense_Mutation_p.G218S	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	303	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AACCCTTGAGGGTCTGCAGCC	0.602000														104			51		0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24544463	24544463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24544463G>A	uc010tnv.2	+	8	1066	c.920G>A	c.(919-921)gGg>gAg	p.G307E	CPNE6_uc001wlm.3_Missense_Mutation_p.G77E|CPNE6_uc001wll.3_Missense_Mutation_p.G252E|CPNE6_uc001wln.3_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	252	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)		ATGCAGGAAGGGACGGCAAAC	0.572000														119			42		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192700901	192700901	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:192700901G>A	uc002utb.3	-	1	1381	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	342						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GAGCGCTGGCGAGGGACGCTT	0.557000														121			42		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476860	20476860	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20476860C>T	uc010bwe.3	+	3	438	c.199C>T	c.(199-201)Cca>Tca	p.P67S	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_5'UTR|ACSM2A_uc002dhf.4_Missense_Mutation_p.P67S|ACSM2A_uc002dhg.4_Missense_Mutation_p.P67S|ACSM2A_uc010vay.2_5'UTR	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	67					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ACTCCCAAGCCCAGCCCTGTG	0.537000														55			18		0	0	1	0	0
ADRA2A	150	broad.mit.edu	37	10	112838960	112838960	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:112838960G>A	uc001kzo.3	+	0	2171	c.1206G>A	c.(1204-1206)tgG>tgA	p.W402*		NM_000681	NP_000672	P08913	ADA2A_HUMAN	Homo sapiens adrenergic, alpha-2A-, receptor (ADRA2A), mRNA.	387					Rho protein signal transduction|actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	TGGTGTGCTGGTTCCCCTTCT	0.632000														75			27		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126705672	126705672	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:126705672G>A	uc003kuh.4	+	5	752	c.390G>A	c.(388-390)tgG>tgA	p.W130*	MEGF10_uc010jdc.1_Nonsense_Mutation_p.W130*|MEGF10_uc010jdd.1_Nonsense_Mutation_p.W130*|MEGF10_uc003kui.4_Nonsense_Mutation_p.W130*	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	130	EGF-like 1.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGCCTGGCTGGGGAGGGACCA	0.507000														61			9		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30507767	30507767	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30507767G>A	uc002dyi.4	+	14	1888	c.1712G>A	c.(1711-1713)gGg>gAg	p.G571E	ITGAL_uc002dyj.4_Missense_Mutation_p.G488E|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	571					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	p.E570*(1)|p.E570K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CGGATAGAAGGGACCCAAGTG	0.577000														129			13		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52554257	52554257	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52554257G>A	uc003dej.3	+	51	5524	c.5450G>A	c.(5449-5451)cGa>cAa	p.R1817Q	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1817	FAS1 6.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGCCCACTTCGAACCATGCAT	0.622000														154			11		0	0	1	0	0
CD69	969	broad.mit.edu	37	12	9907256	9907256	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:9907256C>T	uc001qwk.3	-	3	499	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	CD69_uc010sgu.2_Missense_Mutation_p.E140K|CD69_uc010sgv.1_3'UTR	NM_001781	NP_001772	Q07108	CD69_HUMAN	Homo sapiens CD69 molecule (CD69), transcript variant 1, mRNA.	140	C-type lectin.					integral to plasma membrane	sugar binding|transmembrane receptor activity			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						ACCCAGTGTTCCTCTCTACCT	0.393000														186			83		0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840353	128840353	+	Silent	SNP	G	A	A	rs150340160		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:128840353G>A	uc009zcp.3	-	21	4713	c.4713C>T	c.(4711-4713)ccC>ccT	p.P1571P	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Silent_p.P530P|ARHGAP32_uc001qez.3_Silent_p.P1222P	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1571	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GAATGTCTTCGGGGTAACAGG	0.547000														45			18		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660591	77660591	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77660591C>T	uc011cbx.2	+	4	2218	c.1265C>T	c.(1264-1266)tCc>tTc	p.S422F	SHROOM3_uc011cbz.1_Missense_Mutation_p.S246F|SHROOM3_uc003hkf.1_Missense_Mutation_p.S297F|SHROOM3_uc003hkg.3_Missense_Mutation_p.S200F	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	422					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCTTTAGGCTCCCTGAAGTCT	0.552000														56			25		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852889	40852889	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:40852889C>T	uc003jmg.3	+	2	1530	c.1455C>T	c.(1453-1455)atC>atT	p.I485I		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	485					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TACACAAAATCTTTCTTCATC	0.443000														72			18		0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56235010	56235011	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56235010_56235011CC>TT	uc001sib.3	-	2	304_305	c.183_184GG>AA	c.(181-186)caggaa>caAAaa	p.E62K	MMP19_uc001sia.3_5'Flank|MMP19_uc001sid.3_Intron|MMP19_uc010spw.2_Missense_Mutation_p.E62K	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	62					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TCAGATGCTTCCTGAAAAGCTC	0.530000														55			22		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233749941	233749941	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233749941C>T	uc010pxo.1	+	0	192	c.24C>T	c.(22-24)agC>agT	p.S8S		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	8						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TGGCCGGCAGCTCGTGCGTGC	0.721000														20			7		0	0	1	0	0
ZNF367	195828	broad.mit.edu	37	9	99160471	99160471	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:99160471G>A	uc004awf.3	-	1	901	c.546C>T	c.(544-546)ctC>ctT	p.L182L	ZNF367_uc004awg.3_Silent_p.L182L	NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN	Homo sapiens zinc finger protein 367 (ZNF367), mRNA.	182					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S181*(1)		cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				TGTGAGCCTGGAGCGATTTCT	0.358000														206			59		0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123504887	123504887	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123504887C>T	uc001pza.1	-	5	1019	c.612G>A	c.(610-612)gaG>gaA	p.E204E	SCN3B_uc001pzb.1_Silent_p.E204E	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	204					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TCTCCTTGTTCTCAGATGGGA	0.537000														42			18		0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664387	5664387	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5664387G>A	uc001mbh.3	+	7	1072	c.915G>A	c.(913-915)ctG>ctA	p.L305L	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Silent_p.L659L|TRIM6-TRIM34_uc001mbi.3_Silent_p.L305L|TRIM6-TRIM34_uc009yer.3_5'Flank	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	659						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		ATGTCACACTGAATTCAGTCA	0.318000														14			6		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142564239	142564239	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142564239C>T	uc011kst.2	+	9	2250	c.1463C>T	c.(1462-1464)cCc>cTc	p.P488L	EPHB6_uc011ksu.2_Missense_Mutation_p.P488L|EPHB6_uc003wbs.3_Missense_Mutation_p.P196L|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Missense_Mutation_p.P196L|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	488	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACTCTAGTGCCCTCTGCTGTC	0.597000														43			17		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286638	152286638	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152286638C>T	uc001ezu.1	-	2	760	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	242					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATAGGCTTCATCCTGGATT	0.353000									Ichthyosis					123			46		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555305	155555305	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:155555305G>A	uc002tyv.1	+	0	213	c.18G>A	c.(16-18)agG>agA	p.R6R	KCNJ3_uc010zce.1_Silent_p.R6R|KCNJ3_uc021vrh.1_Silent_p.R6R	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	6					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.R5L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CACTCCGAAGGAAATTTGGGG	0.597000														74			11		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128480613	128480613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128480613G>A	uc003vnz.4	+	9	1770	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	FLNC_uc003voa.4_Missense_Mutation_p.E521K	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	521					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGGCACAGAGGAGCCAGTGAA	0.602000														58			28		0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	118819608	118819608	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:118819608G>A	uc003yok.1	-	8	2504	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F		NM_000127	NP_000118	Q16394	EXT1_HUMAN	Homo sapiens exostosin 1 (EXT1), mRNA.	577					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CTGTGAAGGCGAAATCCACCT	0.483000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses					48			15		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38764987	38764987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38764987C>T	uc003ciq.3	-	17	3286	c.3286G>A	c.(3286-3288)Gaa>Aaa	p.E1096K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1096					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ctcaggatttcctcaggatct	0.592000														31			11		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31895859	31895859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31895859C>T	uc011doq.2	+	1	438	c.59C>T	c.(58-60)cCc>cTc	p.P20L	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Silent_p.S58S|CFB_uc003nyf.3_Silent_p.S58S|CFB_uc010jtk.3_Intron|CFB_uc011dor.2_Silent_p.S58S	NM_001178063	NP_001171534	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 3, mRNA.	0					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGTACCCATCCCCAGCATCAC	0.637000														36			8		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882455	144882455	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:144882455A>G	uc021ouh.1	-	23	3866	c.3564T>C	c.(3562-3564)gaT>gaC	p.D1188D	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_Silent_p.D1188D|PDE4DIP_uc001elx.4_Intron|PDE4DIP_uc001elv.4_Silent_p.D195D	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1188					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)		CTTGGTGGGCATCCACTGTGA	0.502000			T	PDGFRB	MPD									71			13		0	0	1	0	0
PSEN2	5664	broad.mit.edu	37	1	227071564	227071564	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:227071564C>T	uc009xeo.1	+	4	727	c.300C>T	c.(298-300)atC>atT	p.I100I	PSEN2_uc009xep.1_Silent_p.I100I|PSEN2_uc001hqk.2_Non-coding_Transcript	NM_000447	NP_000438	P49810	PSN2_HUMAN	Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA.	100					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity	Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm	aspartic-type endopeptidase activity|protein binding	p.I100I(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				TGTGCATGATCGTGGTGGTAG	0.607000														83			28		0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1499956	1499956	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:1499956A>T	uc004cps.3	+	10	1370	c.1021A>T	c.(1021-1023)Atg>Ttg	p.M341L	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Missense_Mutation_p.M263L	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	341						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CATCCCTCACATGAAAGACCC	0.547000														207			95		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85696067	85696067	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:85696067G>A	uc003hpd.3	-	28	5068	c.4660C>T	c.(4660-4662)Cga>Tga	p.R1554*		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1554						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.R1554Q(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GACATATCTCGAAGAGTCAGG	0.398000														99			47		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536809	146536809	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:146536809G>A	uc003weu.2	+	2	731	c.215G>A	c.(214-216)gGg>gAg	p.G72E		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	72	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAGGTGCTGGGGGATGGTCT	0.423000										HNSCC(39;0.1)				50			11		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31810494	31810494	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:31810494G>A	uc001ivs.4	+	6	2294	c.2231G>A	c.(2230-2232)gGa>gAa	p.G744E	ZEB1_uc001ivr.4_Missense_Mutation_p.G526E|ZEB1_uc010qef.2_Missense_Mutation_p.G526E|ZEB1_uc009xlj.1_Missense_Mutation_p.G670E|ZEB1_uc010qeg.1_Missense_Mutation_p.G603E|ZEB1_uc009xlk.1_Missense_Mutation_p.G526E|ZEB1_uc001ivu.4_Missense_Mutation_p.G745E|ZEB1_uc010qeh.2_Missense_Mutation_p.G677E|ZEB1_uc001ivv.4_Missense_Mutation_p.G724E|ZEB1_uc001ivt.4_Missense_Mutation_p.G526E|ZEB1_uc009xlo.2_Missense_Mutation_p.G727E|ZEB1_uc009xlp.3_Missense_Mutation_p.G728E	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	744					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAGCAACAGGGAGAATTATTA	0.428000														93			22		0	0	1	0	0
EXOC6	54536	broad.mit.edu	37	10	94653169	94653169	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:94653169C>T	uc010qnr.2	+	2	356	c.213C>T	c.(211-213)atC>atT	p.I71I	EXOC6_uc001kie.3_Silent_p.I50I|EXOC6_uc001kif.4_Silent_p.I55I|EXOC6_uc001kig.3_Silent_p.I55I|EXOC6_uc009xub.3_Silent_p.I55I|EXOC6_uc009xuc.3_Silent_p.I55I	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	55					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				ATGCTTGTATCCGTAATCATG	0.338000														92			41		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052800	15052800	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15052800C>T	uc010xoc.2	+	0	500	c.500C>T	c.(499-501)tCc>tTc	p.S167F		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TTGAGGCTGTCCTTCTGCACA	0.488000														182			96		0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45277287	45277287	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:45277287G>A	uc001myq.2	-	1	465	c.339C>T	c.(337-339)agC>agT	p.S113S	SYT13_uc009yku.1_5'UTR	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	113						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GGGGTTGGGGGCTGGCAGGTG	0.587000														29			9		0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102027848	102027848	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:102027848C>T	uc021sdx.1	+	0	161	c.15C>T	c.(13-15)gcC>gcT	p.A5A	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	0					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CTCGCCAGGCCACGTCGCGGT	0.667000														11			9		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169589405	169589405	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169589405G>A	uc011cjx.2	+	2	1184	c.973G>A	c.(973-975)Gac>Aac	p.D325N	PALLD_uc003iru.3_Missense_Mutation_p.D325N|PALLD_uc003irv.3_5'UTR	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	325	Ig-like C2-type 1.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGAGGGAGGGGACCTCCATAC	0.517000									Pancreatic Cancer, Familial Clustering of					99			33		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21263862	21263862	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21263862C>T	uc002red.3	-	3	459	c.331G>A	c.(331-333)Gcc>Acc	p.A111T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	111	Heparin-binding.|Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCAGCAAGGCTTTGCCCTCA	0.527000														48			11		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16035627	16035627	+	Silent	SNP	G	A	A	rs149071621	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16035627G>A	uc002nbu.2	-	5	627	c.591C>T	c.(589-591)ctC>ctT	p.L197L	CYP4F11_uc010eab.1_Silent_p.L197L|CYP4F11_uc002nbt.2_Silent_p.L197L	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	197					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CCAAGGTCATGAGGCTGATGT	0.527000														75			41		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15579516	15579516	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15579516C>T	uc002nbf.4	-	4	1822	c.1689G>A	c.(1687-1689)agG>agA	p.R563R		NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	563					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGGGTGGCTCCCTCCTGGATC	0.517000														65			19		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26157080	26157080	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26157080C>T	uc003abz.1	+	1	271	c.21C>T	c.(19-21)ctC>ctT	p.L7L	MYO18B_uc003aca.1_5'Flank|MYO18B_uc010guy.1_5'Flank|MYO18B_uc010guz.1_5'Flank|MYO18B_uc011aka.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	7						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						CATCACGCCTCGCCCTGTGGG	0.592000														99			25		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098263	144098263	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:144098263C>T	uc022aoj.1	-	3	720	c.720G>A	c.(718-720)ggG>ggA	p.G240G		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	240					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGTGGCAGGGCCCCCGGCCTG	0.597000														17			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348302	140348302	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140348302G>A	uc003lii.3	+	0	2556	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.E651K	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	651	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)			GATGGGAGATGAGAGTGGTAG	0.498000														49			21		0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678484	87678484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:87678484G>A	uc002fkd.3	+	1	1257	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	335					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CACCAAGGAGGAGGGCAAGTA	0.662000														52			15		0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121353122	121353122	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121353122G>A	uc003eeh.4	-	9	960	c.835C>T	c.(835-837)Cca>Tca	p.P279S	HCLS1_uc011bjj.2_Missense_Mutation_p.P242S|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	279					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		ACTGGCTGTGGAGCCTCAGGG	0.597000														64			23		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47532341	47532341	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:47532341C>T	uc002zia.1	+	2	646	c.564C>T	c.(562-564)ttC>ttT	p.F188F	COL6A2_uc002zhz.1_Silent_p.F188F|COL6A2_uc002zhy.1_Silent_p.F188F	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	188	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCCGGCTCTTCGCCGTGGCCC	0.706000														20			5		0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	97002296	97002296	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:97002296C>T	uc001yfq.3	+	10	1207	c.990C>T	c.(988-990)tcC>tcT	p.S330S	PAPOLA_uc001yfr.3_Silent_p.S330S|PAPOLA_uc010twv.2_Silent_p.S330S|PAPOLA_uc010avp.3_Silent_p.S80S	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	330					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACAATGTGTCCGTTTCAACAC	0.413000														74			37		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179633587	179633587	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179633587C>T	uc021vsy.1	-	37	9201	c.8976G>A	c.(8974-8976)gtG>gtA	p.V2992V	TTN_uc021vsz.1_Silent_p.V2946V|TTN_uc021vta.1_Silent_p.V2946V|TTN_uc021vtb.1_Silent_p.V2946V|TTN_uc002unb.2_Silent_p.V2992V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2992	Ig-like 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D2991G(1)		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)			CTTCATAGTTCACTGTCACCT	0.388000														54			14		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65263415	65263415	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:65263415C>T	uc001xht.3	-	9	1252	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	SPTB_uc001xhr.3_Missense_Mutation_p.E401K|SPTB_uc001xhs.3_Missense_Mutation_p.E401K|SPTB_uc001xhu.3_Missense_Mutation_p.E401K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	401					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TACTCAGCTTCCTCCAGGCTT	0.577000														47			12		0	0	1	0	0
IFI27	3429	broad.mit.edu	37	14	94578120	94578120	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94578120G>A	uc021sba.1	+	2	214	c.91_splice	c.e2+1	p.A31_splice	IFI27_uc001ycm.1_Splice_Site|IFI27_uc001ycn.1_Intron	NM_001130080	NP_001123552	P40305	IFI27_HUMAN	Homo sapiens interferon, alpha-inducible protein 27 (IFI27), transcript variant 1, mRNA.	31					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		TTGCCCCTGGGTGAGTGTTCC	0.667000														48			14		0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95549901	95549901	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95549901C>T	uc001kjc.4	+	4	813	c.477C>T	c.(475-477)ttC>ttT	p.F159F	LGI1_uc021pwk.1_Silent_p.F159F|LGI1_uc010qnv.2_Silent_p.F111F|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	159					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AAGATATTTTCAAAGGCCTGG	0.333000														64			24		0	0	1	0	0
ISPD	729920	broad.mit.edu	37	7	16298032	16298032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:16298032G>A	uc010ktx.2	-	7	1102	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	ISPD_uc010kty.2_Missense_Mutation_p.P318S|LOC100506025_uc003stf.3_Intron|LOC100506025_uc022aae.1_Intron	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN	Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 1, mRNA.	368					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						ACAACAACAGGATATAAAATG	0.318000										Multiple Myeloma(15;0.18)				21			6		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138651571	138651571	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:138651571C>T	uc011mdq.2	+	10	975	c.901C>T	c.(901-903)Ctc>Ttc	p.L301F	KCNT1_uc011mdr.2_Missense_Mutation_p.L128F|KCNT1_uc010nbf.3_Missense_Mutation_p.L256F|KCNT1_uc004cgo.1_Missense_Mutation_p.L50F	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	301						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GAACCTGTCCCTCCTGACCTC	0.667000														41			11		0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38091684	38091684	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:38091684A>T	uc003gtb.3	+	12	2540	c.2182A>T	c.(2182-2184)Att>Ttt	p.I728F	TBC1D1_uc011byd.2_Missense_Mutation_p.I822F|TBC1D1_uc010ifd.3_Missense_Mutation_p.I515F|TBC1D1_uc011byf.1_Missense_Mutation_p.I599F	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	728						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GCAAAAGGCTATTCTTCAACA	0.473000														135			11		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168678436	168678436	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:168678436C>T	uc010jjg.3	-	1	645	c.225G>A	c.(223-225)agG>agA	p.R75R	SLIT3_uc003mab.3_Silent_p.R75R|SLIT3_uc010jji.2_Silent_p.R75R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	75					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTGGTGATCCTGGTGATAT	0.433000														77			40		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46832474	46832474	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46832474C>T	uc002peh.3	+	11	1482	c.1451C>T	c.(1450-1452)gCt>gTt	p.A484V	HIF3A_uc002peg.4_Missense_Mutation_p.A484V|HIF3A_uc021uwf.1_Missense_Mutation_p.A428V|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Missense_Mutation_p.A415V|HIF3A_uc002pel.3_Missense_Mutation_p.A482V|HIF3A_uc010xxz.2_Missense_Mutation_p.A433V	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	484	NTAD.|ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GATGCTGATGCTCTGGATTTG	0.582000														76			32		0	0	1	0	0
AGR2	10551	broad.mit.edu	37	7	16839434	16839434	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:16839434C>T	uc003str.3	-	4	451	c.264G>A	c.(262-264)aaG>aaA	p.K88K		NM_006408	NP_006399	O95994	AGR2_HUMAN	Homo sapiens anterior gradient 2 homolog (Xenopus laevis) (AGR2), mRNA.	88					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		CAAACACTTTCTTTAAAGCTA	0.289000														47			5		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3889576	3889577	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:3889576_3889577CC>TT	uc022aqr.1	-	3	850_851	c.460_461GG>AA	c.(460-462)gga>AAa	p.G154K		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	154	Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGCAGAACTCCTTTCAGGATT	0.450000														45			16		0	0	1	0	0
HMG20B	10362	broad.mit.edu	37	19	3578095	3578095	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3578095C>T	uc002lya.3	+	8	993	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	HMG20B_uc002lyb.3_Silent_p.L207L	NM_006339	NP_006330	Q9P0W2	HM20B_HUMAN	Homo sapiens high mobility group 20B (HMG20B), mRNA.	309					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGAAATCCTGGCCCAGGT	0.706000														23			6		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403772	47403772	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47403772C>T	uc001cqp.4	-	1	284	c.233G>A	c.(232-234)tGg>tAg	p.W78*	CYP4A11_uc001cqq.2_Nonsense_Mutation_p.W78*|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	78					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TGTCTCCACCCATTTCTGAAT	0.483000														94			32		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55175726	55175726	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55175726G>A	uc010ooe.1	+	23	4162	c.3838G>A	c.(3838-3840)Ggg>Agg	p.G1280R	HEATR8_uc001cxq.3_Intron|HEATR8_uc010ood.1_Missense_Mutation_p.G798R|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.G481R	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1280						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						GCTGCCGCACGGGAACTCATG	0.617000														50			9		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229772656	229772656	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:229772656C>T	uc001hts.1	+	3	2432	c.2296C>T	c.(2296-2298)Ctg>Ttg	p.L766L	URB2_uc009xfd.1_Silent_p.L766L	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	766						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGCCAGTGTCCTGCTGAGAAC	0.448000														66			29		0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33956124	33956124	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:33956124G>A	uc003ztq.1	-	10	932	c.819C>T	c.(817-819)ttC>ttT	p.F273F	UBAP2_uc011loc.1_Silent_p.F182F|UBAP2_uc011lod.1_Intron|UBAP2_uc011loe.1_Silent_p.F28F|UBAP2_uc011lof.1_Silent_p.F198F|UBAP2_uc011log.1_Silent_p.F219F|UBAP2_uc003ztr.2_Silent_p.F145F	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	273										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATGAGGCAGTGAAGACCTTTG	0.348000														84			15		0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6022130	6022130	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:6022130C>T	uc002wmo.2	-	4	1985	c.1761G>A	c.(1759-1761)ggG>ggA	p.G587G		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	587	Fibronectin type-III.					integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TCTCCGTCACCCCCTGCAGCC	0.711000														60			28		0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24810379	24810379	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24810379C>T	uc003xee.3	-	4	1678	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	526	Tail, subdomain B (acidic).|Tail.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ttcttctcctcctcttcagct	0.413000														65			22		0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104472813	104472813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:104472813C>T	uc001yom.4	+	15	1831	c.1801C>T	c.(1801-1803)Ctt>Ttt	p.L601F	TDRD9_uc001yon.4_Missense_Mutation_p.L339F	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	601					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TTTAGCCCAACTTCCTGTAAA	0.378000														64			28		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559839	44559839	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:44559839C>T	uc002lcr.1	-	0	2150	c.1797G>A	c.(1795-1797)caG>caA	p.Q599Q	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	599	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.Q599E(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTTGTTTTCCTGTGGCTTTT	0.493000														106			45		0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628811	84628811	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:84628811C>T	uc003uic.3	-	16	2319	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	SEMA3D_uc010led.3_Missense_Mutation_p.R760Q|SEMA3D_uc003uib.3_Missense_Mutation_p.R399Q	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	760	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.R760Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTCGATTTCGTTTCTTCTT	0.453000														78			32		0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3806148	3806148	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:3806148C>T	uc010sen.1	-	3	590	c.18G>A	c.(16-18)ggG>ggA	p.G6G	EFCAB4B_uc001qmj.2_Silent_p.G6G	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	6					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	p.G6W(1)		breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			AGACTACCCTCCCGTCAGGGG	0.572000														16			10		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277031	152277031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152277031C>T	uc001ezu.1	-	2	10367	c.10331G>A	c.(10330-10332)gGa>gAa	p.G3444E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3444	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCTGCCTTCCTCTTCTGCT	0.602000									Ichthyosis					415			162		0	0	1	0	0
B4GALT2	8704	broad.mit.edu	37	1	44447081	44447081	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44447081C>T	uc010okl.2	+	1	412	c.336C>T	c.(334-336)ccC>ccT	p.P112P	B4GALT2_uc001clg.3_Silent_p.P83P|B4GALT2_uc001clh.3_Missense_Mutation_p.P32L|B4GALT2_uc001cli.3_Silent_p.P83P	NM_030587	NP_085076	O60909	B4GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	83					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CTGAGGTCCCCAGTGCCCTGC	0.697000														34			12		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231233	21231233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21231233C>T	uc002red.3	-	25	8635	c.8507G>A	c.(8506-8508)aGa>aAa	p.R2836K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2836					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGCTCCGTTCTCAGGTACTT	0.408000														163			54		0	0	1	0	0
SEPN1	57190	broad.mit.edu	37	1	26138213	26138213	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26138213C>T	uc021ojk.1	+	8	1179	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	SEPN1_uc021ojl.1_Missense_Mutation_p.P341L	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	Homo sapiens selenoprotein N, 1 (SEPN1), transcript variant 1, mRNA.	375						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTCTGTGCCCTCCGTGATC	0.617000														7			4		0	0	1	0	0
HRASLS2	54979	broad.mit.edu	37	11	63325900	63325900	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63325900C>T	uc001nxg.1	-	2	410	c.351G>A	c.(349-351)gtG>gtA	p.V117V		NM_017878	NP_060348	Q9NWW9	HRSL2_HUMAN	Homo sapiens HRAS-like suppressor 2 (HRASLS2), mRNA.	117					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						GCAGATGGTTCACGAAGTGCT	0.597000														61			23		0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15874796	15874796	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:15874796C>T	uc001aws.3	+	6	1016	c.896C>T	c.(895-897)tCa>tTa	p.S299L	DNAJC16_uc001awr.1_Missense_Mutation_p.S299L|DNAJC16_uc001awt.3_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	299					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATTATTTATCATTTGGATAT	0.383000														48			17		0	0	1	0	0
CHMP2B	25978	broad.mit.edu	37	3	87302653	87302653	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:87302653C>T	uc003dqp.4	+	4	784	c.524C>T	c.(523-525)tCt>tTt	p.S175F	CHMP2B_uc011bgn.2_Missense_Mutation_p.S134F	NM_014043	NP_054762	Q9UQN3	CHM2B_HUMAN	Homo sapiens charged multivesicular body protein 2B (CHMP2B), transcript variant 1, mRNA.	175					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		ATTGAAATTTCTGGAAAGGTA	0.353000														53			6		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8590392	8590392	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8590392G>A	uc002mkg.3	-	24	2963	c.2825C>T	c.(2824-2826)cCt>cTt	p.P942L		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	942						unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGCCCGGGTAGGGGCTTGGGA	0.607000														43			29		0	0	1	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1147102	1147102	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1147102C>T	uc001adf.3	-	4	1355	c.757G>A	c.(757-759)Gat>Aat	p.D253N	TNFRSF4_uc001ade.3_Missense_Mutation_p.D249N			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.	249					T cell proliferation|immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TTGTGGGCATCGGGGGGCAGC	0.706000														8			8		0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109155434	109155434	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:109155434G>A	uc003kou.1	+	13	3137	c.2174G>A	c.(2173-2175)aGt>aAt	p.S725N		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	725					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GAATCAGCAAGTTCAAATTCA	0.308000														131			25		0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17614116	17614117	+	Silent	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:17614116_17614117GG>AA	uc002wpw.1	-	7	1576_1577	c.1299_1300CC>TT	c.(1297-1302)gtcctg>gtTTtg	p.433_434VL>VL	RRBP1_uc002wpu.3_Silent_p.207_208VL>VL|RRBP1_uc010gcl.1_Silent_p.207_208VL>VL|RRBP1_uc002wpv.1_Silent_p.433_434VL>VL|RRBP1_uc010gcm.1_Missense_Mutation_p.S19F	NM_004587	NP_004578	Q9P2E9	RRBP1_HUMAN	Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.	866	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TGCAGCTGCAGGACCTGCTTCT	0.639000														70			8		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189706760	189706760	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:189706760G>A	uc011bsk.2	-	3	1279	c.891C>T	c.(889-891)cgC>cgT	p.R297R	LEPREL1_uc003fsg.3_Silent_p.R116R	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	297					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGGAGAGAGGCGGCCAGGGC	0.507000														96			18		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760970	62760970	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62760970C>T	uc009yon.3	-	9	1576	c.1455G>A	c.(1453-1455)ggG>ggA	p.G485G	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc009yom.3_Silent_p.G362G|SLC22A8_uc001nwo.3_Silent_p.G485G|SLC22A8_uc010rmm.2_Silent_p.G394G|SLC22A8_uc001nwp.2_Silent_p.G485G	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	485					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CAGCACTGCCCCCGAGGAGGG	0.597000														120			15		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103057133	103057133	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:103057133C>T	uc001phn.1	+	41	6940	c.6796C>T	c.(6796-6798)Cct>Tct	p.P2266S	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.P2266S	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2266	AAA 3 (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)		CATTCAGACTCCTGACATGCA	0.428000														40			32		0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78223041	78223041	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:78223041G>A	uc002jyb.2	+	15	1917	c.1611G>A	c.(1609-1611)caG>caA	p.Q537Q	SLC26A11_uc002jyc.2_Silent_p.Q537Q|SLC26A11_uc002jyd.2_Silent_p.Q537Q|SLC26A11_uc010dhv.2_Silent_p.Q537Q	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	537	STAS.					Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGCTCCTCCAGGACTTCCAGA	0.652000														32			10		0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43858077	43858077	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43858077G>A	uc002owi.3	+	1	167	c.125G>A	c.(124-126)tGg>tAg	p.W42*	CD177_uc021uvf.1_Nonsense_Mutation_p.W42*|CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	42					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CCCCGGCAATGGACCCCTAAG	0.612000														64			33		0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40774551	40774551	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:40774551A>T	uc004abs.2	-	4	876	c.724T>A	c.(724-726)Tcc>Acc	p.S242T	ZNF658_uc010mmm.2_Missense_Mutation_p.S242T|ZNF658_uc010mmn.1_Missense_Mutation_p.S242T	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCCTTACAGGACTTTTCTCCT	0.328000														90			24		0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234368445	234368445	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234368445C>T	uc002vui.1	+	22	2749	c.2737C>T	c.(2737-2739)Cct>Tct	p.P913S	DGKD_uc002vuj.1_Missense_Mutation_p.P869S|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	913					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGAGGGCGTGCCTGTGCAGGT	0.572000														33			19		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6832117	6832117	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6832117C>T	uc002mfu.1	+	14	1511	c.1414C>T	c.(1414-1416)Ctc>Ttc	p.L472F	VAV1_uc010xjh.1_Missense_Mutation_p.L440F|VAV1_uc010dva.1_Missense_Mutation_p.L472F|VAV1_uc002mfv.1_Missense_Mutation_p.L417F	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	472	PH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCACATGTTCCTCCTGATCGA	0.567000														36			16		0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4648002	4648002	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:4648002G>A	uc002fyu.2	+	9	1796	c.1766G>A	c.(1765-1767)aGg>aAg	p.R589K	ZMYND15_uc002fyv.2_Missense_Mutation_p.R589K|ZMYND15_uc002fyt.2_Missense_Mutation_p.R550K	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	550							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GGGGGCCGCAGGGACCTGCAG	0.617000														40			29		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206628459	206628459	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:206628459C>T	uc002vaw.3	+	12	2897	c.2106C>T	c.(2104-2106)ctC>ctT	p.L702L	NRP2_uc002vau.3_Silent_p.L702L|NRP2_uc002vav.3_Silent_p.L702L|NRP2_uc002vax.3_Silent_p.L702L|NRP2_uc002vay.3_Silent_p.L702L	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	702	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ATGCCCGGCTCATCAGCCCCC	0.622000											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		111			39		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52514231	52514231	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52514231C>T	uc003ded.4	+	12	1582	c.1448C>T	c.(1447-1449)cCc>cTc	p.P483L	NISCH_uc003dec.1_Missense_Mutation_p.P483L	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	483	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TCAGCTGCCCCCTGCATCAGA	0.617000														82			25		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16230351	16230351	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:16230351C>T	uc010bvi.3	+	28	4317	c.4142C>T	c.(4141-4143)tCg>tTg	p.S1381L	ABCC1_uc010bvj.3_Missense_Mutation_p.S1322L|ABCC1_uc010bvk.3_Missense_Mutation_p.S1325L|ABCC1_uc010bvl.3_Missense_Mutation_p.S1381L|ABCC1_uc010bvm.3_Missense_Mutation_p.S1266L|ABCC1_uc002del.4_Missense_Mutation_p.S1275L	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1381	ABC transporter 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTTTTGTTTTCGGGTTCCCTC	0.562000														43			9		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43376039	43376039	+	Missense_Mutation	SNP	C	T	T	rs1058692		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43376039C>T	uc002ovd.1	-	2	727	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.E197K|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Missense_Mutation_p.E197K|PSG3_uc002ovb.3_Missense_Mutation_p.E197K	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	197	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.S196S(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CTGTTGGTTTCGGACAGCTTC	0.527000														579			34		0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956099	42956100	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42956099_42956100CC>TT	uc003cmk.2	+	3	798_799	c.612_613CC>TT	c.(610-615)ctcctt>ctTTtt	p.L205F	ZNF662_uc003cmi.2_Missense_Mutation_p.L179F|ZNF662_uc003cmj.2_Missense_Mutation_p.L71F	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TCAATAACCTCCTTGGTATACA	0.351000														71			29		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46267784	46267784	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:46267784C>T	uc002xtk.3	+	13	2806	c.2545C>T	c.(2545-2547)Cgt>Tgt	p.R849C	NCOA3_uc002xtl.3_Missense_Mutation_p.R849C|NCOA3_uc002xtn.3_Missense_Mutation_p.R849C|NCOA3_uc010ght.2_Missense_Mutation_p.R859C|NCOA3_uc002xtm.3_Missense_Mutation_p.R849C|NCOA3_uc010zyc.2_Missense_Mutation_p.R644C	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	849					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCAGTCTATTCGTCCTCCATA	0.373000														103			53		0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43803534	43803534	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:43803534C>T	uc001ciw.3	+	0	60	c.15C>T	c.(13-15)gcC>gcT	p.A5A	MPL_uc001civ.3_Silent_p.A5A|MPL_uc009vwr.3_Silent_p.A5A	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	5					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTCCTGGGCCCTCTTCATGG	0.632000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia							18			7		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19492695	19492695	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19492695C>T	uc002dgc.4	+	14	3020	c.2271C>T	c.(2269-2271)atC>atT	p.I757I	TMC5_uc010vaq.2_Silent_p.I705I|TMC5_uc002dgb.4_Silent_p.I757I|TMC5_uc010var.2_Silent_p.I757I|TMC5_uc002dgd.1_Silent_p.I511I|TMC5_uc002dge.4_Silent_p.I511I|TMC5_uc002dgf.4_Silent_p.I440I|TMC5_uc002dgg.4_Silent_p.I398I	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	757						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						TTCACAGAATCATTGGGATGC	0.443000														89			12		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57103257	57103257	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:57103257G>A	uc002lib.3	-	10	1174	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	CCBE1_uc010dpq.3_Silent_p.F97F|CCBE1_uc002lia.3_Silent_p.F221F	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	368					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	p.E367*(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GAGGTAAAGGGAACTCCTCTG	0.532000														163			55		0	0	1	0	0
CPOX	1371	broad.mit.edu	37	3	98299547	98299547	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:98299547G>A	uc003dsx.3	-	6	1452	c.1345C>T	c.(1345-1347)Cca>Tca	p.P449S		NM_000097	NP_000088	P36551	HEM6_HUMAN	Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA.	449						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CAGTCCCTTGGATGGCGTAGA	0.512000														45			17		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117053514	117053514	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:117053514C>T	uc011mtp.2	-	4	682	c.549G>A	c.(547-549)ttG>ttA	p.L183L	KLHL13_uc004eqk.3_Silent_p.L129L|KLHL13_uc004eql.3_Silent_p.L180L|KLHL13_uc011mtn.2_Silent_p.L20L|KLHL13_uc011mto.2_Silent_p.L174L|KLHL13_uc011mtq.2_Silent_p.L164L|KLHL13_uc004eqm.3_Silent_p.L138L|KLHL13_uc022cde.1_Silent_p.L164L	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	180					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TACAGAAGTCCAAAACTGGCA	0.373000														35			56		0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173285	5173285	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5173285G>A	uc010qyy.2	-	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	105					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTGTGGATGAACCACATTT	0.443000														26			11		0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40099395	40099395	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40099395G>A	uc001zkj.1	-	1	1103	c.237C>T	c.(235-237)ttC>ttT	p.F79F	GPR176_uc010uck.1_Silent_p.F19F	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	79					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GGTTTTTAATGAACCTGTTGG	0.453000														121			52		0	0	1	0	0
ATXN10	25814	broad.mit.edu	37	22	46202900	46202900	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:46202900C>T	uc003bgm.2	+	9	1501	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	ATXN10_uc011aqt.2_Missense_Mutation_p.P348L|ATXN10_uc003bgn.2_Missense_Mutation_p.P223L	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	Homo sapiens ataxin 10 (ATXN10), transcript variant 1, mRNA.	412					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		GACAGTAACCCCTGTATCCTT	0.453000														86			31		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931196	157931196	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:157931196G>A	uc003wno.3	-	6	1043	c.922C>T	c.(922-924)Cat>Tat	p.H308Y	PTPRN2_uc003wnp.3_Missense_Mutation_p.H291Y|PTPRN2_uc003wnq.3_Missense_Mutation_p.H308Y|PTPRN2_uc003wnr.3_Missense_Mutation_p.H270Y|PTPRN2_uc011kwa.2_Missense_Mutation_p.H331Y	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	308						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGAGGGTATGAATCCGTGCT	0.617000														61			21		0	0	1	0	0
ADRA1B	147	broad.mit.edu	37	5	159344514	159344514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:159344514C>T	uc003lxt.1	+	0	775	c.602C>T	c.(601-603)cCc>cTc	p.P201L		NM_000679	NP_000670	P35368	ADA1B_HUMAN	Homo sapiens adrenergic, alpha-1B-, receptor (ADRA1B), mRNA.	201					G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	ACCGAAGAACCCTTCTATGCC	0.567000														109			46		0	0	1	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049679	36049679	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:36049679C>T	uc001uvc.3	-	1	1179	c.597G>A	c.(595-597)cgG>cgA	p.R199R	NBEA_uc021ric.1_Intron|NBEA_uc021rid.1_Intron|NBEA_uc010abi.3_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.2_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	Homo sapiens mab-21-like 1 (C. elegans) (MAB21L1), mRNA.	199					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CCTCCGCCACCCGGTTGGGTC	0.652000														73			16		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149879672	149879672	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:149879672C>T	uc001etg.3	-	8	1957	c.1466G>A	c.(1465-1467)gGg>gAg	p.G489E	SV2A_uc009wlk.3_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.G489E	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	489					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TACGCGCTCCCCGGGGAACAC	0.517000														134			49		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47366128	47366128	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47366128C>T	uc001cqo.1	-	0		c.20G>A			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		GTCCTGAGCTCTGGAAAGCCT	0.532000														2			4		0	0	1	0	0
TMEM196	256130	broad.mit.edu	37	7	19765192	19765192	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:19765192C>T	uc011jyg.2	-	2	489	c.404G>A	c.(403-405)aGg>aAg	p.R135K	TMEM196_uc003sur.3_Non-coding_Transcript	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	Homo sapiens transmembrane protein 196 (TMEM196), mRNA.	141						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						TGAGAACATCCTCCTCTGTTC	0.507000														42			22		0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45563333	45563333	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:45563333G>A	uc001uzp.2	-	0	281	c.239C>T	c.(238-240)cCc>cTc	p.P80L	KIAA1704_uc010tfo.1_5'Flank|KIAA1704_uc001uzq.3_5'Flank|KIAA1704_uc001uzr.1_5'Flank|KIAA1704_uc001uzs.3_5'Flank	NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.	80	Pro-rich.				RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		GGCGTCGAAGGGGGGCGGAGC	0.662000														24			16		0	0	1	0	0
C7orf66	154907	broad.mit.edu	37	7	108524513	108524513	+	Missense_Mutation	SNP	C	T	T	rs145510967		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:108524513C>T	uc003vfo.3	-	0	125	c.77G>A	c.(76-78)aGc>aAc	p.S26N		NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN	Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.	26						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						GCAACTGAGGCTCCAAAGTCT	0.383000														46			6		0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	618098	618098	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:618098C>T	uc001lql.3	-	13	2241	c.1974G>A	c.(1972-1974)tcG>tcA	p.S658S	IRF7_uc009ycb.3_5'Flank|IRF7_uc010qwf.2_5'Flank|IRF7_uc001lqf.3_5'Flank|IRF7_uc010qwg.2_5'Flank|IRF7_uc001lqg.3_5'Flank|IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Silent_p.S658S|CDHR5_uc009ycd.3_Silent_p.S652S|CDHR5_uc001lqk.3_Silent_p.S464S|CDHR5_uc009ycc.3_Silent_p.S492S	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	658					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GCTTGTCCTCCGAGGGGCCGC	0.652000														42			4		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039286	248039286	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248039286G>A	uc001ido.3	+	5	1004	c.956G>A	c.(955-957)tGg>tAg	p.W319*	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	319	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAGAACCATGGAGGGATGTC	0.582000														33			21		0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704373	41704373	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41704373C>T	uc002opw.3	+	3	555	c.500C>T	c.(499-501)cCa>cTa	p.P167L	CYP2S1_uc010xvx.2_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	167					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCAGGACGCCCATTCGATCCC	0.632000														135			59		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169432736	169432736	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169432736C>T	uc011cjx.2	+	1	292	c.81C>T	c.(79-81)ttC>ttT	p.F27F	PALLD_uc003iru.3_Silent_p.F27F	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	27					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTGACTTCTTCCCGGGCCTTT	0.502000									Pancreatic Cancer, Familial Clustering of					69			18		0	0	1	0	0
KIAA0913	23053	broad.mit.edu	37	10	75550745	75550745	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:75550745C>T	uc001jvj.3	+	7	1209	c.954C>T	c.(952-954)tcC>tcT	p.S318S	KIAA0913_uc001jve.3_Silent_p.S318S|KIAA0913_uc009xrl.3_Silent_p.S318S|KIAA0913_uc001jvf.3_Silent_p.S318S|KIAA0913_uc001jvh.3_5'Flank|KIAA0913_uc001jvi.3_5'Flank|KIAA0913_uc010qkr.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	318							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					ATGTGAACTCCATGTATCTGT	0.542000														64			24		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42917072	42917072	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42917072G>A	uc003cmh.3	-	0	562	c.237C>T	c.(235-237)ttC>ttT	p.F79F	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	79					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	p.F79F(2)		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)		GGTCCATGACGAAGGTGAAGT	0.483000														47			19		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71909718	71909718	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71909718C>T	uc010fen.3	+	54	6373	c.6232C>T	c.(6232-6234)Ctg>Ttg	p.L2078L	DYSF_uc010fei.3_Silent_p.L2056L|DYSF_uc010feh.3_Silent_p.L2046L|DYSF_uc002sig.4_Silent_p.L2025L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.L2070L|DYSF_uc010fee.3_Silent_p.L2060L|DYSF_uc010fef.3_Silent_p.L2077L|DYSF_uc002sie.3_Silent_p.L2039L|DYSF_uc010feo.3_Silent_p.L2071L|DYSF_uc010fej.3_Silent_p.L2047L|DYSF_uc010fel.3_Silent_p.L2026L|DYSF_uc010fem.3_Silent_p.L2061L|DYSF_uc002sif.3_Silent_p.L2040L|DYSF_uc010fek.3_Silent_p.L2057L|DYSF_uc010yqy.2_Silent_p.L920L|DYSF_uc010yqz.2_Silent_p.L800L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	2039						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAGTTCATCCTGTGGCGGCG	0.572000														91			43		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237617862	237617862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:237617862C>T	uc001hyl.1	+	14	1584	c.1464C>T	c.(1462-1464)ctC>ctT	p.L488L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	488					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)			GGCAAAATCTCTTCCAGGAAG	0.428000														16			4		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367193	107367193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107367193G>A	uc011lvq.2	-	0	716	c.716C>T	c.(715-717)tCt>tTt	p.S239F		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGAACAGGTAGAGGAAGCTTT	0.403000														64			29		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3215001	3215001	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:3215001G>A	uc002klp.3	-	1	555	c.221C>T	c.(220-222)tCg>tTg	p.S74L	MYOM1_uc002klq.3_Missense_Mutation_p.S74L	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	74						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGCGTGCTGCGAGGCCTGCTG	0.682000														28			13		0	0	1	0	0
LMF1	64788	broad.mit.edu	37	16	921181	921181	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:921181G>A	uc021tae.1	-	6	1062	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	LMF1_uc010brg.2_5'Flank|LMF1_uc010uuu.2_Missense_Mutation_p.A136V|LMF1_uc021tad.1_Missense_Mutation_p.A184V|LMF1_uc010bri.2_Missense_Mutation_p.A116V|LMF1_uc002ckk.2_Missense_Mutation_p.A136V	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA.	353						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				CTCGGGCCGGGCCCCTCGGAT	0.672000														3			3		0	0	1	0	0
LUZP4	51213	broad.mit.edu	37	X	114541218	114541218	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:114541218G>A	uc004eqa.3	+	3	825	c.791G>A	c.(790-792)aGa>aAa	p.R264K	LUZP4_uc004eqb.3_Missense_Mutation_p.R182K	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	264						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GCCACTCAGAGAGATCTCATA	0.478000														35			43		0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4705365	4705365	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4705365G>A	uc009zeh.1	+	6	720	c.678G>A	c.(676-678)ggG>ggA	p.G226G	DYRK4_uc001qmx.3_Silent_p.G111G|DYRK4_uc001qmy.2_Silent_p.G111G|DYRK4_uc021qtq.1_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	111	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			AGACAATCGGGAAGGGGTCCT	0.547000														96			55		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31588337	31588337	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:31588337G>A	uc002rnv.1	-	22	2609	c.2530C>T	c.(2530-2532)Ctg>Ttg	p.L844L		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	844					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TATCTGGCCAGGAAGGGATGT	0.577000														100			33		0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41209632	41209632	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41209632G>A	uc002oor.2	-	7	1007	c.705C>T	c.(703-705)gcC>gcT	p.A235A	ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.2_Silent_p.A194A	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	235	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GGATCTTCACGGCCACCTCCG	0.657000														69			15		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55268104	55268104	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55268104C>T	uc003tqk.3	+	23	3190	c.2944C>T	c.(2944-2946)Cag>Tag	p.Q982*	EGFR_uc022adm.1_Nonsense_Mutation_p.Q982*|EGFR_uc010kzg.2_Nonsense_Mutation_p.Q937*|EGFR_uc022adn.1_Nonsense_Mutation_p.Q937*|EGFR_uc011kco.2_Nonsense_Mutation_p.Q929*	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	982					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCTTGTCATTCAGGTACAAAT	0.522000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				58			19		0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73159785	73159785	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:73159785C>T	uc001xnc.2	-	7	755	c.742_splice	c.e7+1	p.P248_splice	DPF3_uc001xnd.1_Splice_Site|DPF3_uc001xnf.2_Splice_Site|DPF3_uc010ari.1_Splice_Site_p.P248_splice|DPF3_uc010ttq.1_Splice_Site_p.P258_splice	NM_012074	NP_036206	Q92784	DPF3_HUMAN	Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.	248					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGCACTCACGCCTGTGGTTCT	0.552000														236			26		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070255	9070255	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9070255C>T	uc002mkp.3	-	2	17395	c.17191G>A	c.(17191-17193)Gaa>Aaa	p.E5731K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5733	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						GATTGTGATTCATGTCCAGAA	0.488000														72			25		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13397555	13397555	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:13397555G>A	uc002mwy.3	-	19	3551	c.3315C>T	c.(3313-3315)ccC>ccT	p.P1105P	CACNA1A_uc010dzc.2_Silent_p.P631P|CACNA1A_uc010xnd.2_Silent_p.P1108P|CACNA1A_uc021ups.1_Silent_p.P1105P|CACNA1A_uc010xne.2_Silent_p.P1108P|CACNA1A_uc010dze.2_Silent_p.P1105P|CACNA1A_uc021upt.1_Silent_p.P1106P	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1106			G -> S (in dbSNP:rs16027).		cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGGCCAGCATGGGGCCGGGGT	0.726000														18			6		0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40300277	40300277	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40300277C>T	uc001zkm.1	+	24	3507	c.3457C>T	c.(3457-3459)Ccc>Tcc	p.P1153S	EIF2AK4_uc010bbj.1_Missense_Mutation_p.P854S|EIF2AK4_uc001zkn.1_Missense_Mutation_p.P253S|EIF2AK4_uc001zko.1_Missense_Mutation_p.P91S|EIF2AK4_uc010bbk.1_Non-coding_Transcript	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	1153	Histidyl-tRNA synthetase-like.				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)		TCGATTTCATCCCAAAGAACT	0.408000														185			54		0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85950141	85950141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:85950141C>T	uc004eew.2	+	4	1060	c.890C>T	c.(889-891)cCa>cTa	p.P297L	DACH2_uc004eex.2_Missense_Mutation_p.P284L|DACH2_uc010nmq.2_Missense_Mutation_p.P163L|DACH2_uc011mra.1_Missense_Mutation_p.P130L|DACH2_uc010nmr.2_Missense_Mutation_p.P78L	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.P297Q(2)|p.A296A(1)|p.P284Q(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGGGGTGCTCCAACCCTCAAT	0.493000														6			11		0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111494481	111494481	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111494481G>A	uc001eaa.3	-	1	1281	c.1025C>T	c.(1024-1026)cCt>cTt	p.P342L	LRIF1_uc001dzz.3_Intron|LRIF1_uc001eab.3_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.P342P(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CGTCCCACTAGGATCGATGGT	0.343000														141			42		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55021669	55021669	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:55021669C>T	uc002lgn.3	+	1	573	c.216C>T	c.(214-216)ttC>ttT	p.F72F		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	72					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		ACCCGTCATTCGTGCCCATTA	0.498000														164			29		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152402475	152402475	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152402475C>T	uc021vrb.1	-	105	15430	c.15401G>A	c.(15400-15402)cGa>cAa	p.R5134Q	NEB_uc002txr.3_Missense_Mutation_p.R1600Q|NEB_uc002txu.3_Missense_Mutation_p.R6835Q|NEB_uc021vrc.1_Missense_Mutation_p.R6835Q|NEB_uc010fnx.3_Missense_Mutation_p.R5122Q|NEB_uc021vrd.1_Missense_Mutation_p.R5134Q	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5134					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTATTTGTCTCGCATCTTCCT	0.343000														13			7		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179503926	179503926	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179503926C>T	uc001gmo.3	+	24	3247	c.2860C>T	c.(2860-2862)Cat>Tat	p.H954Y	AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.H838Y|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	954	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGAGAAACTTCATCATACCCT	0.348000														107			36		0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224437953	224437953	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:224437953G>A	uc001hok.3	-	18	2312	c.2250C>T	c.(2248-2250)ccC>ccT	p.P750P	NVL_uc001hol.3_Silent_p.P644P|NVL_uc010pvd.2_Silent_p.P659P|NVL_uc010pve.2_Silent_p.P561P|NVL_uc010pvf.2_Non-coding_Transcript	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	750						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		GATCTGCAGGGGGCGGTAAAC	0.398000														80			22		0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78672008	78672008	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:78672008G>A	uc003kfy.3	-	8	1992	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	HOMER1_uc010jab.3_3'UTR|HOMER1_uc010jac.3_Missense_Mutation_p.R167W|HOMER1_uc010jad.3_Missense_Mutation_p.R123W	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	297					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TCTTTGTTCCGAATTTCTACT	0.368000														109			43		0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155412	106155412	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:106155412G>A	uc011cez.2	+	2	781	c.376G>A	c.(376-378)Ggg>Agg	p.G126R	TET2_uc003hxk.3_Missense_Mutation_p.G105R|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.G105R|TET2_uc010ilp.2_Missense_Mutation_p.G105R|TET2_uc021xql.1_Missense_Mutation_p.G105R	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	105					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.F125fs*3(1)|p.G126V(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTCTCTCTCTGGGCTCCTTCA	0.423000			"""Mis N, F"""		MDS									53			26		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802502	27802502	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27802502G>A	uc002rkz.4	+	0	3114	c.3063G>A	c.(3061-3063)ggG>ggA	p.G1021G		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1021										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CATGTGCAGGGGGCCAGCTTC	0.438000														92			16		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841134	13841134	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13841134G>A	uc003jfd.2	-	33	5632	c.5590C>T	c.(5590-5592)Ctg>Ttg	p.L1864L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1864	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)					AGTAGCTCCAGGAAAGCCTGA	0.403000									Kartagener syndrome					73			23		0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73735384	73735384	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:73735384G>A	uc010ttx.2	+	24	3783	c.3620G>A	c.(3619-3621)gGg>gAg	p.G1207E	PAPLN_uc001xnw.4_Missense_Mutation_p.G1180E|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Intron|PAPLN_uc010tty.2_Missense_Mutation_p.G1191E|PAPLN_uc010arm.3_Missense_Mutation_p.G406E|PAPLN_uc010arn.3_Intron	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	1207	Ig-like C2-type 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCTACCAGGGGAGCCAGGCA	0.592000														31			14		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33463397	33463397	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:33463397G>A	uc003zsz.3	-	23	3138	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C	NOL6_uc003zsy.3_Missense_Mutation_p.R67C|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Missense_Mutation_p.R1010C|NOL6_uc011lob.2_Missense_Mutation_p.R961C|NOL6_uc003ztb.1_Intron	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	1013					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGAGACAGGCGAATCAGCACG	0.652000														33			9		0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17531718	17531718	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17531718C>T	uc001bah.1	+	0	98	c.6C>T	c.(4-6)gcC>gcT	p.A2A		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	2					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.A2S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ACAGGATGGCCCCAAAGAGAG	0.587000														24			12		0	0	1	0	0
ProSAPiP1	9762	broad.mit.edu	37	20	3147736	3147736	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3147736G>A	uc002wia.1	-	0	1472	c.74C>T	c.(73-75)cCc>cTc	p.P25L	ProSAPiP1_uc002wib.1_Missense_Mutation_p.P25L	NM_014731	NP_055546	O60299	PRIP1_HUMAN	Homo sapiens ProSAPiP1 protein (ProSAPiP1), mRNA.	25						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AAGCTCGGAGGGCCGTGGGGC	0.701000														2			3		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196801382	196801382	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196801382G>A	uc002utj.4	-	19	3314	c.3213C>T	c.(3211-3213)ttC>ttT	p.F1071F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1071	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACAAAAAAAAGAATCTGGGGA	0.328000														53			26		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34100921	34100921	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34100921C>T	uc001bxm.1	-	30	5156	c.4979G>A	c.(4978-4980)gGg>gAg	p.G1660E	CSMD2_uc001bxn.1_Missense_Mutation_p.G1620E|CSMD2_uc001bxo.1_Missense_Mutation_p.G533E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1620	CUB 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATACTGTCCCCCACAGGGGGC	0.552000											OREG0013349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			9		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646757	57646757	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57646757G>A	uc002qnz.1	-	4	1334	c.948C>T	c.(946-948)ttC>ttT	p.F316F		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTTGTAAATGAAAGCCTTTC	0.403000														128			52		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152468714	152468714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152468714G>A	uc021vrb.1	-	72	11091	c.11062C>T	c.(11062-11064)Ctg>Ttg	p.L3688L	NEB_uc002txu.3_Silent_p.L3931L|NEB_uc021vrc.1_Silent_p.L3931L|NEB_uc010fnx.3_Silent_p.L3676L|NEB_uc021vrd.1_Silent_p.L3688L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3688					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCATTGTCAGGGCATTATTC	0.458000														53			11		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307203	162307203	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:162307203G>A	uc003iqh.3	-	15	2676	c.2240C>T	c.(2239-2241)tCc>tTc	p.S747F	FSTL5_uc003iqi.3_Missense_Mutation_p.S746F|FSTL5_uc010iqv.3_Missense_Mutation_p.S737F	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	747						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTCAGTAAAGGATGGTTGAAA	0.413000														64			25		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975341	20975341	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20975341C>T	uc010vbe.2	-	52	9865	c.9865G>A	c.(9865-9867)Gag>Aag	p.E3289K	DNAH3_uc010vbd.2_Missense_Mutation_p.E724K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3289					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCCGAGTCTCGTCAATCTGC	0.498000														106			45		0	0	1	0	0
C2orf76	130355	broad.mit.edu	37	2	120097505	120097505	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:120097505G>A	uc002tls.2	-	2	572	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	C2orf76_uc010flf.1_Missense_Mutation_p.R11C|C2orf76_uc010yyg.1_Non-coding_Transcript|C2orf76_uc002tlt.2_Missense_Mutation_p.R11C|C2orf76_uc002tlu.2_Missense_Mutation_p.R11C	NM_001017927	NP_001017927	Q3KRA6	CB076_HUMAN	Homo sapiens chromosome 2 open reading frame 76 (C2orf76), mRNA.	11										large_intestine(1)|lung(3)|pancreas(1)	5						CGGATGAGGCGAACTGTGATG	0.433000														60			17		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33559689	33559689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:33559689G>A	uc001iwx.4	-	2	867	c.344C>T	c.(343-345)tCa>tTa	p.S115L	NRP1_uc001iwv.4_Missense_Mutation_p.S115L|NRP1_uc001iwy.4_Missense_Mutation_p.S115L|NRP1_uc009xlz.3_Missense_Mutation_p.S115L|NRP1_uc001iww.4_Intron|NRP1_uc001iwz.2_Missense_Mutation_p.S115L|NRP1_uc001ixa.2_Missense_Mutation_p.S115L|NRP1_uc001ixb.2_Missense_Mutation_p.S115L|NRP1_uc001ixc.1_Missense_Mutation_p.S115L	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	115	CUB 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	AAATGGCCCTGAAGACACAAC	0.403000														64			24		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42297140	42297140	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42297140C>T	uc021sjp.1	-	4	562	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	170					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		ACTCACCTCTCCTCCAGCAGG	0.622000														19			3		0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101773360	101773360	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:101773360G>A	uc001pgl.3	-	5	1128	c.532C>T	c.(532-534)Cca>Tca	p.P178S		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	178	Fibrinogen C-terminal.				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)		ACCTCAAATGGGTAGCTAGAT	0.333000														68			30		0	0	1	0	0
C9orf47	286223	broad.mit.edu	37	9	91606031	91606031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:91606031C>T	uc004aqd.3	+	0	254	c.121C>T	c.(121-123)Cca>Tca	p.P41S	S1PR3_uc004aqe.3_5'Flank|C9orf47_uc004aqc.2_Missense_Mutation_p.P41S	NM_001001938	NP_001001938	Q6ZRZ4	CI047_HUMAN	Homo sapiens chromosome 9 open reading frame 47 (C9orf47), transcript variant 1, mRNA.	41						extracellular region				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						GGACCTGGTTCCAAGCCTGTT	0.612000														22			13		0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76386875	76386875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:76386875C>T	uc003pid.4	+	13	2370	c.1751C>T	c.(1750-1752)cCc>cTc	p.P584L	SENP6_uc003pie.4_Missense_Mutation_p.P577L|SENP6_uc010kbf.3_Non-coding_Transcript|SENP6_uc003pic.2_Missense_Mutation_p.P577L|SENP6_uc003pif.1_Missense_Mutation_p.P475L	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	584					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GCGAAAATTCCCTTTGAAGAA	0.343000														43			9		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28343065	28343065	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:28343065C>T	uc001iua.1	-	18	2064	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.E554K|MPP7_uc009xla.2_Missense_Mutation_p.E554K	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	554	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTTTTGAGCTCATTGAATGCC	0.328000														38			18		0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677770	37677770	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:37677770G>A	uc002ofq.3	-	4	921	c.669C>T	c.(667-669)ttC>ttT	p.F223F	ZNF585B_uc002ofr.1_Silent_p.F37F	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	223					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)			AGTTATAAGGGAAACCTTTCC	0.388000														100			48		0	0	1	0	0
OGG1	4968	broad.mit.edu	37	3	9798279	9798279	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:9798279C>A	uc003bsi.3	+	4	1215	c.872C>A	c.(871-873)cCg>cAg	p.P291Q	OGG1_uc003bsj.3_Missense_Mutation_p.P291Q|OGG1_uc003bsh.3_Missense_Mutation_p.P291Q|OGG1_uc003bsl.3_Missense_Mutation_p.P291Q|OGG1_uc003bsk.3_Missense_Mutation_p.P291Q|OGG1_uc003bsm.3_Missense_Mutation_p.P291Q|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|OGG1_uc003bsr.2_Missense_Mutation_p.P56Q|OGG1_uc010hcm.2_Intron|OGG1_uc003bsq.2_Intron|OGG1_uc003bsp.2_Missense_Mutation_p.P56Q	NM_002542	NP_002533	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.	291					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					GCGAAGGGACCGAGCCCCCAG	0.602000								Base excision repair (BER), DNA glycosylases						47			18		1.00905e-13	1.01358e-13	1	1	0
LPIN3	64900	broad.mit.edu	37	20	39986644	39986644	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:39986644C>T	uc010ggh.3	+	16	2256	c.2165C>T	c.(2164-2166)tCt>tTt	p.S722F	LPIN3_uc002xjx.3_Missense_Mutation_p.S721F|LPIN3_uc010zwf.2_Intron	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	721	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ATCCTTCTGTCTCCCAGCAGC	0.672000														84			21		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118105316	118105316	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:118105316G>A	uc001two.2	-	4	1102	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	378					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.F348L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGAGGGGTGGAAGGCAGGA	0.627000														14			3		0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100378688	100378688	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:100378688G>A	uc003duc.3	+	14	2247	c.1979_splice	c.e14+1	p.S660_splice	GPR128_uc011bhc.2_Splice_Site_p.S361_splice|GPR128_uc003dud.3_Splice_Site_p.S183_splice	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	660					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ACCTGACAAGGTAAGATTCCC	0.428000														45			16		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227924928	227924928	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:227924928G>A	uc021vxr.1	-	25	2189	c.2088C>T	c.(2086-2088)gcC>gcT	p.A696A	COL4A4_uc021vxs.1_Silent_p.A696A	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	696	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.G695C(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCAGCCCAGGGGCACCTTGGG	0.428000														107			50		0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42689053	42689053	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42689053G>A	uc001zpn.1	+	8	1477	c.1171G>A	c.(1171-1173)Gtc>Atc	p.V391I	CAPN3_uc001zpk.1_Missense_Mutation_p.V164I|CAPN3_uc001zpl.1_Missense_Mutation_p.V304I|CAPN3_uc010udf.1_Missense_Mutation_p.V304I|CAPN3_uc010udg.1_Missense_Mutation_p.V256I|CAPN3_uc001zpo.1_Missense_Mutation_p.V391I|CAPN3_uc001zpp.1_Missense_Mutation_p.V343I	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	391	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GCAGCACCAGGTCACTGAGGA	0.542000														78			5		0	0	1	0	0
CH25H	9023	broad.mit.edu	37	10	90966300	90966300	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:90966300G>A	uc001kfz.3	-	0	772	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_003956	NP_003947	O95992	CH25H_HUMAN	Homo sapiens cholesterol 25-hydroxylase (CH25H), mRNA.	250					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		AGTACGGAGCGAAGTTGCAGT	0.582000														16			19		0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96970536	96970536	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96970536C>T	uc001kke.3	+	4	866	c.741C>T	c.(739-741)ttC>ttT	p.F247F	C10orf129_uc009xuu.1_Silent_p.F157F	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	247					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GAATGGGATTCAGCCAGGCTT	0.493000														59			21		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53007622	53007622	+	Silent	SNP	G	A	A	rs143904861		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53007622G>A	uc001sas.3	-	4	869	c.834C>T	c.(832-834)atC>atT	p.I278I		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	278	Coil 1B.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTGGGACTGGATCTGAGCAG	0.567000														92			31		0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44148716	44148716	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:44148716G>A	uc001rns.4	-	1	413	c.333C>T	c.(331-333)atC>atT	p.I111I	PUS7L_uc001rnq.4_Silent_p.I111I|PUS7L_uc001rnr.4_Silent_p.I111I|PUS7L_uc009zkb.3_Intron	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	111					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTCCATCAACGATAGTATCTT	0.348000														63			26		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	173024	173024	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:173024G>A	uc003jak.2	+	14	3045	c.2995G>A	c.(2995-2997)Gaa>Aaa	p.E999K		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	999	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAATTTGAAGGAACAGGGGCA	0.498000														74			31		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66929360	66929360	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:66929360C>T	uc002jhq.3	-	5	859	c.519G>A	c.(517-519)tgG>tgA	p.W173*	ABCA8_uc002jhp.3_Nonsense_Mutation_p.W173*|ABCA8_uc010wqq.2_Nonsense_Mutation_p.W173*|ABCA8_uc010wqr.2_Nonsense_Mutation_p.W112*|ABCA8_uc002jhr.3_Nonsense_Mutation_p.W173*|ABCA8_uc002jhs.3_Nonsense_Mutation_p.W173*|ABCA8_uc002jht.3_Nonsense_Mutation_p.W173*	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	173						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AACCTTCCTTCCAAAATACTG	0.303000														143			49		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66101939	66101939	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:66101939G>A	uc001dci.3	+	19	3128	c.2739G>A	c.(2737-2739)ttG>ttA	p.L913L	LEPR_uc009waq.3_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	913					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTCTTCTTTTGGAGCCTGAAA	0.368000														198			68		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29044154	29044154	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29044154C>T	uc002kws.3	+	8	1189	c.1080C>T	c.(1078-1080)atC>atT	p.I360I		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	360	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATCAGTTATCTCTCGATACC	0.368000														60			24		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652734	121652734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:121652734C>T	uc003vjy.3	+	11	4029	c.3634C>T	c.(3634-3636)Ccc>Tcc	p.P1212S	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1212					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGTTGAAACCCCCAAAGTTGA	0.388000														172			56		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142488856	142488856	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:142488856C>T	uc003ywi.2	-	9	1186	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	369							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGCGCAGGTCCTCCGAGTTC	0.662000														6			7		0	0	1	0	0
IHH	3549	broad.mit.edu	37	2	219920427	219920427	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219920427G>A	uc002vjo.2	-	2	787	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_002181	NP_002172	Q14623	IHH_HUMAN	Homo sapiens Indian hedgehog (IHH), mRNA.	246				F -> L (in Ref. 1; BAA33523).	cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCGGTCCAGGAAAATGAGCA	0.657000														57			23		0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6753012	6753012	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:6753012C>T	uc003jdx.1	+	11	1425	c.1296C>T	c.(1294-1296)acC>acT	p.T432T	PAPD7_uc011cmn.2_Silent_p.T432T|PAPD7_uc010itl.1_Silent_p.T252T	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	432					DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTCCACCGACCCTAGGGGTTG	0.527000														73			31		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061180	9061180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9061180G>A	uc002mkp.3	-	2	26470	c.26266C>T	c.(26266-26268)Cct>Tct	p.P8756S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8758	Ser-rich.|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						GATTGAGCAGGACCTGGGGTG	0.498000														79			20		0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41265035	41265035	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:41265035C>T	uc003azh.3	+	1	198	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F	XPNPEP3_uc011aox.2_Missense_Mutation_p.L33F|XPNPEP3_uc003azi.3_5'UTR|XPNPEP3_uc011aoy.1_Non-coding_Transcript|XPNPEP3_uc010gyh.1_Non-coding_Transcript	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	33					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						AAGGTACTCCCTTCAGCCTGT	0.438000														111			56		0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95263230	95263230	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:95263230C>T	uc011lty.2	-	8	1897	c.1710G>A	c.(1708-1710)cgG>cgA	p.R570R	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Silent_p.R548R|ECM2_uc004asg.3_Silent_p.R548R|ECM2_uc010mqz.2_5'UTR	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	570					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						AGCCAGGGATCCGTTCAATCT	0.483000														74			20		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23809324	23809324	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:23809324C>T	uc003sws.4	+	12	1729	c.1662C>T	c.(1660-1662)atC>atT	p.I554I	STK31_uc003swt.4_Silent_p.I531I|STK31_uc011jze.2_Silent_p.I554I|STK31_uc010kuq.3_Silent_p.I531I	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	554							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTGATGAAATCCTAGAGAAGA	0.373000														181			68		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701623	56701623	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56701623G>A	uc010ygh.2	-	3	1061	c.1061C>T	c.(1060-1062)cCc>cTc	p.P354L		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	354					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P353L(1)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACATGCAAAGGGCGGCAGGGC	0.527000														82			29		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129147903	129147903	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:129147903C>T	uc022cdu.1	+	2	1199	c.1155C>T	c.(1153-1155)acC>acT	p.T385T	BCORL1_uc010nrd.1_Silent_p.T287T	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	385	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ctgcacccaccccagccccca	0.642000														0			5		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259263	89259263	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:89259263G>A	uc003dqy.3	+	2	632	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	EPHA3_uc003dqx.1_Missense_Mutation_p.R136Q|EPHA3_uc021xbf.1_Missense_Mutation_p.R136Q	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	136						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTGAAATTTCGAGAGCATCAG	0.418000										TSP Lung(6;0.00050)				168			33		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966858	39966859	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:39966858_39966859CC>TT	uc003ayc.3	+	0	101_102	c.101_102CC>TT	c.(100-102)tcc>tTT	p.S34F	CACNA1I_uc003ayd.3_Missense_Mutation_p.S34F	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	34					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCCCCATCCTCCCCGCCAGGCC	0.683000														27			17		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616111	92616111	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92616111C>T	uc001pdj.4	+	22	12506	c.12489C>T	c.(12487-12489)ttC>ttT	p.F4163F	FAT3_uc001pdi.4_Silent_p.F603F	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4163					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGTCCTCTTCGTCATCTTCA	0.592000										TCGA Ovarian(4;0.039)				17			12		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115399878	115399878	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:115399878C>T	uc001efr.3	+	3	428	c.219C>T	c.(217-219)ttC>ttT	p.F73F	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.F73F|SYCP1_uc009wgw.3_Silent_p.F73F	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	73	Asp/Glu-rich (acidic).				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)		AAGTTAATTTCTTGCCCGTGC	0.313000														43			10		0	0	1	0	0
FCN1	2219	broad.mit.edu	37	9	137809704	137809704	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:137809704C>T	uc004cfi.3	-	0	103	c.14G>A	c.(13-15)gGa>gAa	p.G5E		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	5					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CATGGTGGCTCCACTCAGCTC	0.582000														62			21		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807339	143807339	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143807339G>A	uc011ktz.2	+	0	664	c.664G>A	c.(664-666)Ggg>Agg	p.G222R		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GCACATCCTCGGGGCCATCCT	0.517000														136			61		0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568521	140568521	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140568521G>A	uc003liw.1	+	1	1627	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	544	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGAGCAGCGAGGCGCTGGT	0.687000														113			11		0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232592	56232592	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56232592C>T	uc010wno.2	+	0	78	c.78C>T	c.(76-78)ttC>ttT	p.F26F	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCCAGAAATTCCTGTTCCTTC	0.478000														162			66		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239181733	239181733	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:239181733G>A	uc002vyc.3	-	4	785	c.548C>T	c.(547-549)tCt>tTt	p.S183F	PER2_uc010znv.1_Missense_Mutation_p.S183F|PER2_uc010znw.1_Missense_Mutation_p.S183F|PER2_uc010fyx.1_Missense_Mutation_p.S183F	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	183	PAS 1.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AATGTGCTCAGAGGTAACGCT	0.552000														58			22		0	0	1	0	0
KIAA0391	9692	broad.mit.edu	37	14	35649969	35649969	+	Missense_Mutation	SNP	C	T	T	rs147065101		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:35649969C>T	uc001wsy.1	+	4	1621	c.1261C>T	c.(1261-1263)Cgt>Tgt	p.R421C	KIAA0391_uc010tps.1_Missense_Mutation_p.R326C|KIAA0391_uc001wsz.1_Missense_Mutation_p.R405C|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Missense_Mutation_p.R49C	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	421					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TCCTAAAGTTCGTGAATCTCA	0.333000														54			13		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115947782	115947782	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115947782G>A	uc001lbg.1	+	1	345	c.192G>A	c.(190-192)aaG>aaA	p.K64K	TDRD1_uc001lbf.3_Silent_p.K55K|TDRD1_uc001lbh.1_Silent_p.K55K|TDRD1_uc001lbi.1_Silent_p.K55K	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	64					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAAATAAAAAGAACAATTTTT	0.388000														116			44		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347430	48347431	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:48347430_48347431CC>TT	uc010rhv.2	+	0	938_939	c.938_939CC>TT	c.(937-939)acc>aTT	p.T313I		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTCATTTATACCCTGAGAAATG	0.322000														60			14		0	0	1	0	0
C14orf105	55195	broad.mit.edu	37	14	57947410	57947410	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:57947410C>T	uc010trl.1	-	4	698	c.555G>A	c.(553-555)agG>agA	p.R185R	C14orf105_uc001xcy.2_Silent_p.R186R|C14orf105_uc010trm.1_Silent_p.R97R|C14orf105_uc010trn.1_Silent_p.R97R|C14orf105_uc001xcz.2_Silent_p.R185R|C14orf105_uc010aox.1_Non-coding_Transcript|C14orf105_uc010aoy.2_Silent_p.R107R	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	Homo sapiens chromosome 14 open reading frame 105 (C14orf105), mRNA.	186										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CTTTATGGTCCCTTGGACTTT	0.418000														121			50		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515551	140515551	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140515551C>T	uc003liq.3	+	0	752	c.535C>T	c.(535-537)Cat>Tat	p.H179Y		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	179	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCACACTTTCATGTTGCTAC	0.507000														83			33		0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187864	42187864	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42187864G>A	uc002ori.1	-	2	560	c.558C>T	c.(556-558)ctC>ctT	p.L186L	CEACAM7_uc010ehx.2_Silent_p.L186L|CEACAM7_uc010ehy.1_Intron	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	186	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane		p.S185N(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GACTGACCAGGAGGCTCTGAT	0.478000														113			47		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57809130	57809130	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:57809130C>T	uc010bfw.3	+	9	2749	c.2556C>T	c.(2554-2556)atC>atT	p.I852I	CGNL1_uc002aeg.3_Silent_p.I852I	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	852						myosin complex|tight junction	motor activity	p.I852I(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AAAGGCAGATCGAGGACCTGA	0.577000														32			8		0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66795861	66795861	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:66795861C>T	uc002sdu.3	+	10	1544	c.1087C>T	c.(1087-1089)Cag>Tag	p.Q363*	MEIS1_uc002sdt.3_Nonsense_Mutation_p.Q363*|MEIS1_uc010yqh.2_Non-coding_Transcript|MEIS1_uc010yqi.2_Nonsense_Mutation_p.Q298*|MEIS1_uc002sdw.1_Nonsense_Mutation_p.Q219*|MEIS1_uc021vit.1_5'Flank	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Homo sapiens Meis homeobox 1 (MEIS1), mRNA.	363	Required for transcriptional activation (By similarity).						sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						AATGGACGGTCAGCAACATAT	0.408000														199			52		0	0	1	0	0
IFIT1B	439996	broad.mit.edu	37	10	91144246	91144246	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:91144246G>A	uc001kgh.3	+	1	1256	c.1176G>A	c.(1174-1176)ggG>ggA	p.G392G	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA.	392							binding			endometrium(2)|large_intestine(3)|lung(8)	13						AACATCATGGGAAATCTCAAG	0.363000														74			28		0	0	1	0	0
OXSM	54995	broad.mit.edu	37	3	25832704	25832704	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:25832704C>T	uc003cdn.3	+	1	300	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C	NGLY1_uc011awo.2_5'Flank|OXSM_uc010hfh.3_Missense_Mutation_p.R65C|OXSM_uc011awp.2_5'UTR	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	Homo sapiens 3-oxoacyl-ACP synthase, mitochondrial (OXSM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	65					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.R65C(2)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGTTTGGGATCGTCTTATCGG	0.463000														134			57		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45295117	45295117	+	Missense_Mutation	SNP	G	A	A	rs56126236		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:45295117G>A	uc010olf.2	-	8	1184	c.1172C>T	c.(1171-1173)tCt>tTt	p.S391F	PTCH2_uc021omv.1_Missense_Mutation_p.S391F|PTCH2_uc010olg.2_Missense_Mutation_p.S90F	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	391					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					ACTGACTTCAGAGAACGCATG	0.622000									Basal Cell Nevus syndrome					100			36		0	0	1	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138202199	138202199	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:138202199C>T	uc003qhr.3	+	8	2182	c.2116C>T	c.(2116-2118)Cga>Tga	p.R706*	TNFAIP3_uc003qhs.3_Nonsense_Mutation_p.R706*	NM_006290	NP_006281	P21580	TNAP3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 3 (TNFAIP3), mRNA.	706	Interaction with NAF1 (By similarity).				B-1 B cell homeostasis|anti-apoptosis|apoptosis|negative regulation of B cell activation|negative regulation of CD40 signaling pathway|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of bone resorption|negative regulation of endothelial cell apoptosis|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	DNA binding|caspase inhibitor activity|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AGATGTGCCTCGAACCACACA	0.542000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""									55			18		0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92826798	92826798	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92826798C>T	uc011khy.2	-	6	1230	c.1207_splice	c.e6+1	p.V403_splice	HEPACAM2_uc003uml.3_Splice_Site_p.V368_splice|HEPACAM2_uc010lff.3_Splice_Site_p.G368_splice|HEPACAM2_uc003umm.3_Splice_Site_p.V380_splice	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	380						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTTAACCTACCTTTGTAGGGT	0.269000														54			9		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10392112	10392112	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10392112G>A	uc003bvt.3	-	14	2725	c.2286C>T	c.(2284-2286)ttC>ttT	p.F762F	ATP2B2_uc003bvv.3_Silent_p.F717F|ATP2B2_uc003bvw.3_Silent_p.F717F|ATP2B2_uc010hdo.3_Silent_p.F467F	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	762					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCCTCCTGTTGAACTCCTTGC	0.592000														55			32		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47364527	47364527	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47364527G>A	uc001cqo.1	-	1		c.348C>T			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		TGTCTTTTCAGGAGAATCTTG	0.478000														70			39		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504230	70504230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:70504230C>T	uc001dep.3	+	18	2639	c.2609C>T	c.(2608-2610)cCa>cTa	p.P870L	LRRC7_uc009wbg.3_Missense_Mutation_p.P154L|LRRC7_uc001deq.3_Missense_Mutation_p.P111L	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	870						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						ACTACCAGCCCATTGCCTGAA	0.468000														112			51		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89392839	89392839	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89392839C>T	uc010upo.1	+	9	2277	c.1903C>T	c.(1903-1905)Ccc>Tcc	p.P635S	ACAN_uc002bmx.3_Missense_Mutation_p.P635S|ACAN_uc010upp.1_Missense_Mutation_p.P635S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	635					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)			CCTCCGCTACCCCATCGTCAC	0.687000														21			6		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107041545	107041545	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:107041545C>T	uc010ywi.1	-	19	2935	c.2878G>A	c.(2878-2880)Ggt>Agt	p.G960S		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	960					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AAAATCACACCACGGCCCTTC	0.403000														284			78		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570356	61570356	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61570356C>T	uc010xeu.2	+	8	1398	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	SERPINB2_uc002ljo.3_Silent_p.F355F|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	355					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)	CTGAAGTGTTCCACCAAGCCA	0.542000														83			27		0	0	1	0	0
TGIF2	60436	broad.mit.edu	37	20	35240525	35240525	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:35240525C>T	uc002xfr.3	+	2	549	c.331C>T	c.(331-333)Cgt>Tgt	p.R111C	TGIF2_uc002xfo.3_3'UTR|TGIF2_uc002xfs.3_3'UTR|TGIF2_uc002xfq.3_3'UTR|TGIF2_uc002xft.3_Non-coding_Transcript	NM_199483	NP_955777	Q9GZN2	TGIF2_HUMAN	Homo sapiens chromosome 20 open reading frame 24 (C20orf24), transcript variant 2, mRNA.	0	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGAACTTGATCGTTGGGGAAC	0.512000														441			45		0	0	1	0	0
SPN	6693	broad.mit.edu	37	16	29675707	29675707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:29675707G>A	uc021tgd.1	+	0	658	c.658G>A	c.(658-660)Gga>Aga	p.G220R	BOLA2_uc010bzb.1_Intron|SPN_uc002dtm.3_Missense_Mutation_p.G220R|SPN_uc002dtn.3_Missense_Mutation_p.G220R	NM_003123	NP_003114	P16150	LEUK_HUMAN	Homo sapiens sialophorin (SPN), transcript variant 2, mRNA.	220					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CGGGGCCAGTGGACCCCAGGT	0.567000														125			14		0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74429817	74429817	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:74429817G>A	uc001ovh.3	-	1	396	c.143C>T	c.(142-144)cCc>cTc	p.P48L	CHRDL2_uc001ovg.3_5'UTR|CHRDL2_uc001ovi.3_Missense_Mutation_p.P48L|CHRDL2_uc001ovk.1_Missense_Mutation_p.P48L	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	48	VWFC 1.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CTCCAAGTAGGGGTGCCAGCT	0.587000														25			7		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71391399	71391399	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:71391399C>T	uc010dfm.3	-	24	3487	c.3487G>A	c.(3487-3489)Gag>Aag	p.E1163K	SDK2_uc002jjt.4_Missense_Mutation_p.E322K|SDK2_uc010dfn.2_Missense_Mutation_p.E842K	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1163	Fibronectin type-III 6.				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						TCCAGGTCCTCGATGGTGTAG	0.647000														26			12		0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56385698	56385698	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:56385698G>A	uc010bfn.3	-	8	4228	c.4228C>T	c.(4228-4230)Cgt>Tgt	p.R1410C	RFX7_uc010ugk.1_Intron|RFX7_uc002adn.1_Intron	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	1313					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCCTGCTGACGACCTGGATCA	0.398000														44			13		0	0	1	0	0
NR2E3	10002	broad.mit.edu	37	15	72104690	72104690	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72104690G>A	uc002ati.3	+	4	776	c.586G>A	c.(586-588)Gat>Aat	p.D196N	NR2E3_uc002ath.1_Missense_Mutation_p.D196N	NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA.	196					phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						TGAGAATATTGATGTCACCAG	0.582000														138			46		0	0	1	0	0
ANGPTL7	10218	broad.mit.edu	37	1	11253760	11253760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11253760G>A	uc001ase.3	+	2	840	c.601G>A	c.(601-603)Gac>Aac	p.D201N	MTOR_uc001asd.3_Intron	NM_021146	NP_066969	O43827	ANGL7_HUMAN	Homo sapiens angiopoietin-like 7 (ANGPTL7), mRNA.	201	Fibrinogen C-terminal.				response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		CATCCGTGGGGACTTCTGGCT	0.597000														58			26		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236205533	236205533	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:236205533G>A	uc001hxo.3	-	3	914	c.812C>T	c.(811-813)aCc>aTc	p.T271I	NID1_uc009xgd.3_Missense_Mutation_p.T271I	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	271					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CACGCCATTGGTGGTGGCTGG	0.552000														216			95		0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160604751	160604751	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:160604751C>T	uc002uax.3	+	4	1072	c.950C>T	c.(949-951)tCt>tTt	p.S317F	MARCH7_uc010foq.3_Missense_Mutation_p.S317F|MARCH7_uc010zcn.2_Missense_Mutation_p.S261F|MARCH7_uc010for.3_Missense_Mutation_p.S279F|MARCH7_uc002uay.3_Non-coding_Transcript	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.	317	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TCTTACGTTTCTCCAAGAATC	0.393000														45			29		0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44596233	44596233	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44596233C>T	uc001clp.3	+	2	1033	c.975C>T	c.(973-975)ttC>ttT	p.F325F		NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	325					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GGTCTTTCTTCCGTTCTGATG	0.463000														85			38		0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14512561	14512561	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:14512561C>T	uc002myl.3	+	10	1552	c.1172C>T	c.(1171-1173)gCc>gTc	p.A391V	CD97_uc002mym.3_Missense_Mutation_p.A342V|CD97_uc002myn.3_Missense_Mutation_p.A298V	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	391					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCAGCTGGAGCCGAGGATCCA	0.607000														26			4		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142180806	142180806	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:142180806G>A	uc003eux.4	-	41	7290	c.7168C>T	c.(7168-7170)Ctg>Ttg	p.L2390L	ATR_uc003euy.1_Silent_p.L276L	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2390	PI3K/PI4K.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AGTTTGGTCAGAATAGGTCTC	0.303000								Other conserved DNA damage response genes						227			71		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52508883	52508883	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:52508883G>A	uc001wzo.3	-	6	1999	c.1765C>T	c.(1765-1767)Ctg>Ttg	p.L589L	NID2_uc010tqs.2_Silent_p.L589L|NID2_uc010tqt.1_Silent_p.L589L|NID2_uc001wzp.3_Silent_p.L589L	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	589	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding	p.L589L(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CAGCCAAACAGGCCTCCAATT	0.582000														138			79		0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27360240	27360240	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27360240C>T	uc002rjb.2	-	2	1538	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|C2orf53_uc021vfb.1_Missense_Mutation_p.E320K	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	320										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCCTGCTTCCTTCGGCCTT	0.667000														60			25		0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47707561	47707561	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:47707561G>A	uc001ngg.3	-	10	1974	c.1672C>T	c.(1672-1674)Cat>Tat	p.H558Y	AGBL2_uc001ngf.3_Intron|AGBL2_uc010rhq.1_Missense_Mutation_p.H520Y|AGBL2_uc001ngh.1_Missense_Mutation_p.H502Y	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	558					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CTGTGGCCATGGAAATCACAA	0.383000														68			41		0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726366	168726366	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:168726366C>T	uc021vsc.1	+	0	817	c.817C>T	c.(817-819)Cga>Tga	p.R273*	B3GALT1_uc002udz.1_Nonsense_Mutation_p.R273*	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	273					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						ACTGTGTCTTCGAAAGCTGGG	0.463000														64			26		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74489326	74489326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74489326G>A	uc002sko.1	-	5	751	c.749C>T	c.(748-750)cCg>cTg	p.P250L	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.P250L|SLC4A5_uc010ffc.1_Missense_Mutation_p.P250L|SLC4A5_uc002skp.1_Missense_Mutation_p.P186L|SLC4A5_uc002sks.1_Missense_Mutation_p.P250L	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	250						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GTGTAGACTCGGGCCAGCACC	0.587000														48			12		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152383234	152383234	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152383234C>T	uc001ezx.2	-	2	398	c.324G>A	c.(322-324)ggG>ggA	p.G108G		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	108					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCGAGGCCCCAGAGTGGA	0.592000														322			108		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083644	9083644	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9083644G>A	uc002mkp.3	-	0	8375	c.8171C>T	c.(8170-8172)cCt>cTt	p.P2724L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2724	Ser-rich.|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						AGTGGAAGAAGGATGGAGTGG	0.468000														90			28		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717466	222717466	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:222717466G>A	uc001hnh.1	-	1	445	c.387C>T	c.(385-387)ctC>ctT	p.L129L		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	129					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGAGGCCCGGGAGATTCCGGA	0.577000														158			65		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95502186	95502186	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:95502186G>A	uc001tdp.4	-	10	3426	c.3202C>T	c.(3202-3204)Cag>Tag	p.Q1068*	FGD6_uc009zsx.3_Nonsense_Mutation_p.Q201*|FGD6_uc001tdq.1_Nonsense_Mutation_p.Q104*	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	1068					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATAAGTTTCTGAAAGTTGTCC	0.423000														45			11		0	0	1	0	0
BDH1	622	broad.mit.edu	37	3	197273245	197273245	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:197273245C>T	uc003fxr.3	-	2	472	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	BDH1_uc003fxs.3_Missense_Mutation_p.E24K|BDH1_uc003fxu.3_Missense_Mutation_p.E24K	NM_203314	NP_976060	Q02338	BDH_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	24					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	GCTCCATTTTCTCTATCACAG	0.557000														39			43		0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153221832	153221832	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:153221832G>A	uc004fjp.3	-	15	3194	c.2666C>T	c.(2665-2667)aCc>aTc	p.T889I		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	889	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGAGACGGTGCCTGTCAC	0.642000														48			10		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20497945	20497945	+	Missense_Mutation	SNP	G	A	A	rs148142047		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20497945G>A	uc010bwe.3	+	14	1918	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	ACSM2A_uc002dhf.4_Missense_Mutation_p.R560Q|ACSM2A_uc002dhg.4_Missense_Mutation_p.R560Q|ACSM2A_uc010vay.2_Missense_Mutation_p.R481Q|ACSM2A_uc002dhh.4_Missense_Mutation_p.R190Q|AX747287_uc002dhi.1_5'Flank	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	560					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.R560Q(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AAAATTCAACGAGCCAAGCTT	0.473000														180			56		0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4966352	4966352	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrY:4966352G>A	uc004fqo.3	+	1	1467	c.733G>A	c.(733-735)Gat>Aat	p.D245N	PCDH11Y_uc010nwg.1_Missense_Mutation_p.D234N|PCDH11Y_uc004fql.1_Missense_Mutation_p.D234N|PCDH11Y_uc004fqm.1_Missense_Mutation_p.D234N|PCDH11Y_uc004fqn.1_Missense_Mutation_p.D245N|PCDH11Y_uc004fqp.1_Missense_Mutation_p.D16N	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	245	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGAAGAGAAGGATACCTATGT	0.398000														102			61		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23895187	23895187	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23895187C>T	uc001wjx.3	-	18	2254	c.2148G>A	c.(2146-2148)ggG>ggA	p.G716G		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	716	Myosin head-like.		G -> R (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCGGAAGTCCCCGTAGAGGA	0.607000														51			14		0	0	1	0	0
BC043541	0	broad.mit.edu	37	1	43353119	43353119	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:43353119C>T	uc001cij.1	+	3		c.1021C>T								Homo sapiens cDNA clone IMAGE:5170739.																		GGATGAAGTTCCTGCAGATGG	0.682000														31			7		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168678406	168678406	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:168678406C>T	uc010jjg.3	-	1	675	c.255G>A	c.(253-255)aaG>aaA	p.K85K	SLIT3_uc003mab.3_Silent_p.K85K|SLIT3_uc010jji.2_Silent_p.K85K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	85					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCGGAGGTTCTTGAGCCCAG	0.443000														89			28		0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205632659	205632659	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205632659G>A	uc001hda.1	-	2	599	c.260C>T	c.(259-261)cCc>cTc	p.P87L	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	87					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCAGATGAAGGGCCGGCGGCG	0.662000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									44			19		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57598915	57598915	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57598915C>T	uc001snd.3	+	72	11684	c.11218C>T	c.(11218-11220)Cac>Tac	p.H3740Y		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3740	LDL-receptor class A 31.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCACACCACCCACTGCAAAGA	0.612000														66			23		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43972278	43972278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:43972278C>T	uc003bdy.2	-	25	3633	c.3319G>A	c.(3319-3321)Gac>Aac	p.D1107N	EFCAB6_uc003bdz.2_Missense_Mutation_p.D955N|EFCAB6_uc010gzi.2_Missense_Mutation_p.D955N|EFCAB6_uc010gzj.1_Missense_Mutation_p.D333N	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.T1106M(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TACTGATTGTCCGTTAGTTTG	0.333000														70			28		0	0	1	0	0
TRAV38-2DV8	28643	broad.mit.edu	37	14	22749540	22749540	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22749540G>A	uc010tmr.2	+	1	304	c.258G>A	c.(256-258)gtG>gtA	p.V86V	TCRA_uc001wbw.2_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_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron					SubName: Full=HADV38S2; Flags: Fragment;																		GTTTCTCTGTGAACTTCCAGA	0.468000														38			22		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25281188	25281188	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25281188G>A	uc010aaa.3	+	15	2548	c.2215G>A	c.(2215-2217)Gga>Aga	p.G739R	ATP12A_uc001upp.3_Missense_Mutation_p.G733R	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	733					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GACCGGGGATGGAGTTAATGA	0.557000														46			14		0	0	1	0	0
CIB1	10519	broad.mit.edu	37	15	90775465	90775465	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90775465G>A	uc002bpb.4	-	2	343	c.181C>T	c.(181-183)Ctt>Ttt	p.L61F	GDPGP1_uc002bpc.3_5'Flank	NM_006384	NP_006375	Q99828	CIB1_HUMAN	Homo sapiens calcium and integrin binding 1 (calmyrin) (CIB1), mRNA.	61					apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AGCTCTGGAAGGCTGAGAATC	0.597000														122			29		0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340173	55340173	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55340173C>T	uc010rih.2	+	0	570	c.570C>T	c.(568-570)acC>acT	p.T190T		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T190P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GTTCAGAAACCTATGTGGTTA	0.433000														90			22		0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82507161	82507161	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:82507161G>A	uc002bgt.1	-	14	1816	c.1647C>T	c.(1645-1647)ctC>ctT	p.L549L	EFTUD1_uc002bgu.1_Silent_p.L498L	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	549					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GGACTTGGGGGAGGCCATCTG	0.473000														60			23		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543015	133543015	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:133543015G>A	uc002ttp.3	-	13	1743	c.1369C>T	c.(1369-1371)Ctg>Ttg	p.L457L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	457							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGGCTCCCCAGGTCAGCTGTT	0.473000														45			13		0	0	1	0	0
PROZ	8858	broad.mit.edu	37	13	113814419	113814419	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:113814419G>A	uc001vta.1	+	1	169	c.162G>A	c.(160-162)ttG>ttA	p.L54L	PROZ_uc010agr.1_Silent_p.L76L	NM_003891	NP_003882	P22891	PROZ_HUMAN	Homo sapiens protein Z, vitamin K-dependent plasma glycoprotein (PROZ), transcript variant 2, mRNA.	54	Gla.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	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;0.216)	all cancers(43;0.104)		Menadione(DB00170)	AGGGAAACTTGGAAAAAGAAT	0.463000														167			68		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920657	51920657	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51920657C>T	uc002pwo.3	-	1	322	c.100G>A	c.(100-102)Ggc>Agc	p.G34S	SIGLEC10_uc002pwp.3_Missense_Mutation_p.G34S|SIGLEC10_uc021uyl.1_Missense_Mutation_p.G34S|SIGLEC10_uc002pwq.3_Missense_Mutation_p.G34S|SIGLEC10_uc010ycz.2_Missense_Mutation_p.G34S|SIGLEC10_uc002pws.2_Missense_Mutation_p.G34S|SIGLEC10_uc002pwr.3_Missense_Mutation_p.G34S|SIGLEC10_uc010ycy.2_Missense_Mutation_p.G34S|SIGLEC10_uc010eow.3_Intron|LOC100129083_uc021uym.1_Non-coding_Transcript	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	34	Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ATGCACAGGCCCTCCGGCACC	0.592000														69			22		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18384706	18384706	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:18384706G>A	uc002zng.4	-	4	982	c.629C>T	c.(628-630)cCt>cTt	p.P210L	MICAL3_uc011agl.2_Missense_Mutation_p.P210L|MICAL3_uc002znh.2_Missense_Mutation_p.P210L|MICAL3_uc002znj.1_5'UTR|MICAL3_uc002znk.1_Missense_Mutation_p.P210L|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.3_Missense_Mutation_p.P210L|MICAL3_uc011agm.1_Missense_Mutation_p.P210L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	210						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTCTGACACAGGATGAGTCTT	0.537000														26			13		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61261588	61261588	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61261588G>A	uc010xep.2	+	6	668	c.500_splice	c.e6-1	p.E167_splice	SERPINB13_uc002ljc.3_Splice_Site_p.E158_splice|SERPINB13_uc002ljd.3_Splice_Site_p.E22_splice|SERPINB13_uc010xeq.2_Splice_Site|SERPINB13_uc010xer.2_Splice_Site	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	158					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTCATTTGCAGAAAAAATCAA	0.383000														45			10		0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133339513	133339513	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:133339513C>T	uc010mza.3	+	5	1115	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	ASS1_uc004bzm.3_Missense_Mutation_p.R127W|ASS1_uc004bzn.3_Missense_Mutation_p.R127W	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	127					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGATCAGGTCCGGTTTGAGCT	0.602000														64			10		0	0	1	0	0
ZNF167	55888	broad.mit.edu	37	3	44612310	44612310	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:44612310C>T	uc003cnj.3	+	5	2124	c.1708C>T	c.(1708-1710)Cag>Tag	p.Q570*	ZNF167_uc003cnk.3_Intron|ZNF167_uc010hin.3_Nonsense_Mutation_p.Q570*|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	570					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		TATTCGACATCAGAGCCTCCA	0.438000														101			32		0	0	1	0	0
SPINK4	27290	broad.mit.edu	37	9	33248459	33248459	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:33248459G>A	uc003zsh.3	+	3	262	c.251G>A	c.(250-252)gGc>gAc	p.G84D		NM_014471	NP_055286	O60575	ISK4_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 4 (SPINK4), mRNA.	84	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			ATGAAAGATGGCAAATGCTGA	0.483000														25			13		0	0	1	0	0
SPATA19	219938	broad.mit.edu	37	11	133712390	133712390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:133712390C>T	uc001qgv.1	-	4	478	c.427G>A	c.(427-429)Gtg>Atg	p.V143M		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA.	143					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CTTCGTCTCACCTGCTCTATT	0.532000														93			40		0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135346307	135346307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:135346307C>T	uc001lnj.1	+	4	793	c.760C>T	c.(760-762)Cat>Tat	p.H254Y	CYP2E1_uc001lnk.1_Missense_Mutation_p.H117Y|CYP2E1_uc009ybl.1_Missense_Mutation_p.H55Y|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Missense_Mutation_p.H55Y	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	254					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GAAGGAGCACCATCAATCTCT	0.522000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					93			35		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052304	15052304	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15052304G>A	uc010xoc.2	+	0	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CGGCCCCATGGAAAGAGGAAA	0.468000														146			51		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79572069	79572069	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:79572069G>A	uc001jzk.3	-	20	4162	c.4092C>T	c.(4090-4092)atC>atT	p.I1364I	DLG5_uc001jzi.3_Silent_p.I119I|DLG5_uc001jzj.3_Silent_p.I779I|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1364	PDZ 3.				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)			CTCCACTCACGATGGAGATGC	0.587000														73			18		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61587119	61587119	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61587119G>A	uc010xev.2	+	4	560	c.470G>A	c.(469-471)tGg>tAg	p.W157*	SERPINB2_uc010xew.2_Nonsense_Mutation_p.W157*	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	172					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)	ATCAACTCTTGGGTTGAAAGA	0.393000														77			28		0	0	1	0	0
DUPD1	338599	broad.mit.edu	37	10	76803681	76803681	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:76803681C>T	uc001jwq.1	-	1	295	c.295G>A	c.(295-297)Gac>Aac	p.D99N		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	Homo sapiens dual specificity phosphatase and pro isomerase domain containing 1 (DUPD1), mRNA.	99	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CGGTAGTAGTCGGGCCCAGTG	0.667000														55			31		0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150255959	150255959	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:150255959G>A	uc001euj.3	+	0	731	c.282G>A	c.(280-282)gcG>gcA	p.A94A	C1orf51_uc001euh.3_Silent_p.A94A|C1orf51_uc001eui.3_Silent_p.A6A	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	94										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GATCTGGGGCGAAAAGATCAA	0.527000														118			48		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126134603	126134603	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:126134603G>A	uc004bnx.1	+	8	2676	c.2584G>A	c.(2584-2586)Gtc>Atc	p.V862I	CRB2_uc004bnw.1_Missense_Mutation_p.V862I	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	862						extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GTGTGAGGAGGTCCCTGATGG	0.617000														64			15		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31914886	31914886	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31914886G>A	uc003nyj.4	+	2	679	c.401G>A	c.(400-402)gGt>gAt	p.G134D	CFB_uc011dor.2_Missense_Mutation_p.G636D|CFB_uc011dos.1_3'UTR|CFB_uc003nyi.2_Missense_Mutation_p.G134D	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	134	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGCTATGACGGTTACACTCTC	0.557000														82			33		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139390781	139390781	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139390781G>A	uc004chz.3	-	33	7410	c.7410C>T	c.(7408-7410)tcC>tcT	p.S2470S		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2470					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.L2469fs*11(2)|p.L2469fs*10(2)|p.S2472fs*6(1)|p.P2470S(1)|p.S2471fs*1(1)|p.S2472fs*8(1)|p.L2469fs*9(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGACCAGCGAGGATGGCAGCG	0.697000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				8			5		0	0	1	0	0
ACO1	48	broad.mit.edu	37	9	32405519	32405519	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:32405519C>T	uc003zqw.4	+	1	170	c.15C>T	c.(13-15)ttC>ttT	p.F5F	ACO1_uc010mjh.1_5'UTR|ACO1_uc003zqx.4_Silent_p.F5F|ACO1_uc003zqy.4_Non-coding_Transcript	NM_002197	NP_002188	P21399	ACOC_HUMAN	Homo sapiens aconitase 1, soluble (ACO1), mRNA.	5					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	Golgi apparatus|cytosol|endoplasmic reticulum	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	p.F5F(2)		breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GCAACCCATTCGCACACCTTG	0.398000														55			13		0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68266310	68266310	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:68266310C>T	uc010cfa.1	-	7	1136	c.948G>A	c.(946-948)caG>caA	p.Q316Q	ESRP2_uc002evp.1_Intron|ESRP2_uc002evq.1_Silent_p.Q306Q	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), mRNA.	316	RRM 1.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GCTTGTGTCTCTGCAGCGCTA	0.637000														65			15		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74090859	74090859	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:74090859C>T	uc021ulp.1	-	4	3528	c.3210G>A	c.(3208-3210)gcG>gcA	p.A1070A	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	1070					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGTAGAGGGTCGCAAAGTCCT	0.592000														67			18		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155203214	155203214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:155203214G>A	uc021xge.1	-	21	3206	c.2929C>T	c.(2929-2931)Ctt>Ttt	p.L977F	PLCH1_uc021xgd.1_Missense_Mutation_p.L977F|PLCH1_uc021xgf.1_Missense_Mutation_p.L939F	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	977					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCTCCCAGAAGGTTTCTGTCA	0.468000														103			35		0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46244856	46244856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46244856G>A	uc003cph.1	-	1	1020	c.949C>T	c.(949-951)Cac>Tac	p.H317Y	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Missense_Mutation_p.H317Y	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	317					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACACGCCTGTGGAACAACTGC	0.592000														33			18		0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788484	42788484	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42788484C>T	uc002xli.1	-	1	1816	c.943G>A	c.(943-945)Gag>Aag	p.E315K		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	315					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CACTCGCCCTCGTAGCGGAGG	0.657000														33			20		0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112648300	112648300	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:112648300G>A	uc003dzj.1	-	3	490	c.257C>T	c.(256-258)cCt>cTt	p.P86L	CD200R1_uc003dzk.1_Missense_Mutation_p.P63L|CD200R1_uc011bhx.1_Missense_Mutation_p.P41L|CD200R1_uc003dzl.1_Missense_Mutation_p.P86L|CD200R1_uc003dzm.1_Missense_Mutation_p.P63L	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.	63	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TAATGCGATAGGAGGGCAACA	0.383000														105			23		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43351612	43351612	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:43351612C>T	uc003tid.1	+	3	883	c.278C>T	c.(277-279)tCt>tTt	p.S93F	HECW1_uc011kbi.1_Missense_Mutation_p.S93F|HECW1_uc003tie.1_Missense_Mutation_p.S125F	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	93					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATCGGGCACTCTCAGGACCTG	0.567000														74			26		0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64139971	64139971	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:64139971G>A	uc004dvu.3	-	2	544	c.388C>T	c.(388-390)Ctt>Ttt	p.L130F	ZC4H2_uc004dvv.3_Missense_Mutation_p.L107F|ZC4H2_uc022byd.1_Missense_Mutation_p.L107F|ZC4H2_uc022byc.1_Missense_Mutation_p.L107F|ZC4H2_uc011mow.2_Missense_Mutation_p.L130F|ZC4H2_uc011mov.2_Missense_Mutation_p.L107F|ZC4H2_uc004dvw.2_Missense_Mutation_p.L130F	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	130							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCCAAGGAAAGCTTCTCCTCT	0.522000														25			6		0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15234464	15234464	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:15234464C>T	uc002gon.3	-	2	626	c.439G>A	c.(439-441)Gga>Aga	p.G147R		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.	147					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		ACACGTTCTCCCAGATTTTGG	0.388000														51			30		0	0	1	0	0
OR13J1	392309	broad.mit.edu	37	9	35869520	35869520	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35869520C>T	uc011lph.2	-	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily J, member 1 (OR13J1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CCTCCTTGTTCCTCAGGCTGT	0.592000														42			13		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85434298	85434298	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:85434298C>T	uc001tac.3	+	2	274	c.163C>T	c.(163-165)Cac>Tac	p.H55Y	LRRIQ1_uc001taa.1_Missense_Mutation_p.H55Y|LRRIQ1_uc001tad.3_5'UTR	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	55										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATCAGTTCTTCACTGTATTAA	0.303000														92			23		0	0	1	0	0
AKR7A2	8574	broad.mit.edu	37	1	19632552	19632552	+	Missense_Mutation	SNP	G	A	A	rs79772073		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:19632552G>A	uc001bbw.3	-	5	900	c.878C>T	c.(877-879)tCg>tTg	p.S293L		NM_003689	NP_003680	O43488	ARK72_HUMAN	Homo sapiens aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) (AKR7A2), mRNA.	293					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	p.T292I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGCAGCCGAGGTCACACT	0.632000														74			23		0	0	1	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25160960	25160960	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:25160960G>A	uc001ise.1	-	3	401	c.372C>T	c.(370-372)atC>atT	p.I124I	PRTFDC1_uc010qdd.1_Silent_p.I124I|PRTFDC1_uc009xkm.1_Non-coding_Transcript	NM_020200	NP_064585	Q9NRG1	PRDC1_HUMAN	Homo sapiens phosphoribosyl transferase domain containing 1 (PRTFDC1), mRNA.	124					GMP salvage|IMP salvage|adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|grooming behavior|hypoxanthine metabolic process|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CATCGCCTCCGATTATCTGCA	0.453000														202			90		0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793286	17793286	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17793286C>T	uc009yhc.1	+	1	700	c.645C>T	c.(643-645)ttC>ttT	p.F215F	KCNC1_uc001mnk.4_Silent_p.F215F	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	215						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ACGAGCGCTTCAACCCCATCG	0.567000														84			38		0	0	1	0	0
FFAR1	2864	broad.mit.edu	37	19	35842810	35842810	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35842810G>A	uc002nzc.2	+	0	366	c.356G>A	c.(355-357)aGg>aAg	p.R119K		NM_005303	NP_005294	O14842	FFAR1_HUMAN	Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA.	119					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding	p.R118W(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GCCTTCCGGAGGCCGTGCTAT	0.672000														51			22		0	0	1	0	0
IL26	55801	broad.mit.edu	37	12	68619438	68619438	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:68619438G>T	uc001stx.1	-	0	134	c.99C>A	c.(97-99)taC>taA	p.Y33*		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Homo sapiens interleukin 26 (IL26), mRNA.	33					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of cytokine secretion|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTCCCCTTGGGTAACAACTTT	0.433000														222			23		5.45024e-15	5.47531e-15	1	1	0
SUN1	23353	broad.mit.edu	37	7	892285	892285	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:892285C>T	uc021zym.1	+	7	911	c.891C>T	c.(889-891)atC>atT	p.I297I	GET4_uc003sjj.1_Non-coding_Transcript|SUN1_uc011jvq.2_Silent_p.I195I|SUN1_uc003sjf.3_Silent_p.I214I|SUN1_uc003sjg.3_Silent_p.I202I|SUN1_uc011jvr.2_Silent_p.I106I|SUN1_uc003sji.3_Silent_p.I135I|SUN1_uc003sjk.3_5'UTR	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA.	324	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear inner membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTTGCTCATCCCACTCTTCC	0.418000														149			44		0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32585567	32585567	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:32585567C>T	uc003xiv.2	+	5	1120	c.603C>T	c.(601-603)gaC>gaT	p.D201D	NRG1_uc022ats.1_Silent_p.D146D|NRG1_uc003xip.3_Silent_p.D382D|NRG1_uc003xir.3_Silent_p.D201D|NRG1_uc010lvl.3_Silent_p.D184D|NRG1_uc010lvm.3_Silent_p.D167D|NRG1_uc010lvn.3_Silent_p.D167D|NRG1_uc003xis.3_Silent_p.D201D|NRG1_uc011lbf.1_Silent_p.D201D|NRG1_uc010lvo.2_Silent_p.D201D|NRG1_uc003xiu.2_Silent_p.D201D|NRG1_uc003xiw.2_Silent_p.D201D|NRG1_uc003xit.2_Silent_p.D201D|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Silent_p.D150D|NRG1_uc010lvq.2_Silent_p.D126D|NRG1_uc003xix.3_Silent_p.D91D|NRG1_uc003xiy.3_Silent_p.D256D|NRG1_uc011lbg.1_Silent_p.D47D|NRG1_uc011lbh.1_Silent_p.D47D|NRG1_uc003xiz.1_Non-coding_Transcript|NRG1_uc003xja.2_Silent_p.D4D	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	201	EGF-like.				Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TGGTGAAAGACCTTTCAAACC	0.423000														92			25		0	0	1	0	0
EVX2	344191	broad.mit.edu	37	2	176946947	176946947	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:176946947C>T	uc010zeu.2	-	1	844	c.658G>A	c.(658-660)Gag>Aag	p.E220K		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GCGGCCAGCTCGCACCGGCGG	0.632000														25			8		0	0	1	0	0
RGS1	5996	broad.mit.edu	37	1	192545481	192545481	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:192545481C>T	uc001gsi.1	+	1	270	c.204C>T	c.(202-204)tcC>tcT	p.S68S	RGS1_uc010pou.1_Silent_p.S68S	NM_002922	NP_002913	Q08116	RGS1_HUMAN	Homo sapiens regulator of G-protein signaling 1 (RGS1), mRNA.	68					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TGAAATCTTCCAAGTCCAAGG	0.343000														50			19		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77415255	77415255	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77415255G>A	uc004ajl.1	-	16	2391	c.2153C>T	c.(2152-2154)cCc>cTc	p.P718L	TRPM6_uc004ajk.1_Missense_Mutation_p.P713L|TRPM6_uc022bib.1_Missense_Mutation_p.P713L|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	718					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGAAACAAAGGGTCGTAATCC	0.463000														56			16		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48286023	48286023	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:48286023T>A	uc010rht.2	+	0	611	c.611T>A	c.(610-612)aTc>aAc	p.I204N		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GGCGGCTCCATCTCCGTAGTC	0.552000														32			20		0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56977725	56977725	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:56977725G>A	uc001cyj.2	-	4	1301	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	245					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TCTGATACGCGAGACAGTCCC	0.572000														53			13		0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141315179	141315179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:141315179C>T	uc011chi.2	-	11	1384	c.1166G>A	c.(1165-1167)cGa>cAa	p.R389Q	CLGN_uc003iii.3_Missense_Mutation_p.R389Q	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	389					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					AGGAATTTTTCGAGGACTCCA	0.343000														47			18		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154624199	154624199	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:154624199C>T	uc003inq.3	+	2	359	c.140C>T	c.(139-141)cCc>cTc	p.P47L	TLR2_uc003inr.3_Missense_Mutation_p.P47L|TLR2_uc003ins.3_Missense_Mutation_p.P47L|TLR2_uc021xtl.1_Missense_Mutation_p.P47L	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	47					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	p.P47S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				AACTCCATTCCCTCAGGGCTC	0.493000														24			15		0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51754555	51754555	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:51754555C>T	uc001csl.3	-	16	1779	c.1674G>A	c.(1672-1674)gaG>gaA	p.E558E	TTC39A_uc001csk.3_Silent_p.E523E|TTC39A_uc010ond.2_Silent_p.E495E|TTC39A_uc010one.2_Silent_p.E522E|TTC39A_uc010onf.2_Silent_p.E526E|TTC39A_uc001csj.3_Silent_p.E159E	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	558							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TTCTGTCTTGCTCCATAAGCA	0.493000														11			8		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169127034	169127034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:169127034G>A	uc003maf.3	+	12	1229	c.1149G>A	c.(1147-1149)atG>atA	p.M383I	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjl.1_5'Flank	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	383					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			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)			GGGTGACCATGAAGATGCTGG	0.582000														177			46		0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30366743	30366743	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30366743G>A	uc002wwp.1	+	9	1708	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	TPX2_uc010gdv.1_Missense_Mutation_p.R337Q	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	337					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TTCCATAAACGAACCCCTAAC	0.413000														94			44		0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	26994270	26994270	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:26994270C>T	uc001isv.3	+	3	329	c.283C>T	c.(283-285)Cct>Tct	p.P95S	PDSS1_uc001isw.3_Missense_Mutation_p.P95S	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 1 (PDSS1), mRNA.	95					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						ATACACCGATCCTTTCAAACT	0.383000														39			17		0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39122681	39122681	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39122681T>A	uc002hvo.1	-	0	464	c.428A>T	c.(427-429)tAc>tTc	p.Y143F	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	143	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GTAAGACAGGTAATCAGGACA	0.413000														74			46		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51258589	51258589	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:51258589C>T	uc003tps.3	-	3	828	c.643G>A	c.(643-645)Gag>Aag	p.E215K	COBL_uc003tpr.4_Missense_Mutation_p.E215K|COBL_uc011kcl.2_Missense_Mutation_p.E215K|COBL_uc010kzc.3_Missense_Mutation_p.E215K|COBL_uc003tpt.3_Missense_Mutation_p.E215K|COBL_uc003tpp.4_5'UTR|COBL_uc003tpq.4_Missense_Mutation_p.E131K	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	215								p.N214N(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ATCCCGAGCTCGTTCAGGGAC	0.592000														35			8		0	0	1	0	0
OR10V1	390201	broad.mit.edu	37	11	59480873	59480873	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59480873G>A	uc001nof.1	-	0	446	c.446C>T	c.(445-447)tCc>tTc	p.S149F		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily V, member 1 (OR10V1), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						CAGCACCAAGGAGCCTACCAG	0.498000														29			13		0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103343261	103343261	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:103343261C>T	uc001vpj.3	-	1	190	c.184G>A	c.(184-186)Gat>Aat	p.D62N		NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	Homo sapiens methyltransferase like 21C (METTL21C), mRNA.	62							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						CTGGCGTAATCTGTAGGAACA	0.438000														104			8		0	0	1	0	0
RNASE9	390443	broad.mit.edu	37	14	21024852	21024852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21024852C>T	uc010ahp.3	-	4	647	c.392G>A	c.(391-393)gGa>gAa	p.G131E	RNASE9_uc010aho.3_Missense_Mutation_p.G126E|RNASE9_uc001vxq.4_Missense_Mutation_p.G131E|RNASE9_uc010ahq.3_Missense_Mutation_p.G131E|RNASE9_uc010ahr.3_Missense_Mutation_p.G131E|RNASE9_uc010ahs.3_Missense_Mutation_p.G126E|RNASE9_uc010aht.3_Missense_Mutation_p.G126E|RNASE9_uc010ahu.3_Missense_Mutation_p.G126E|RNASE9_uc021rnt.1_Missense_Mutation_p.G126E	NM_001110359	NP_001103827	P60153	RNAS9_HUMAN	Homo sapiens ribonuclease, RNase A family, 9 (non-active) (RNASE9), transcript variant 1, mRNA.	126						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TTTCCTAATTCCATTCTTACA	0.363000														39			16		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716045	13716045	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:13716045G>A	uc001rbt.2	-	12	4306	c.4127C>T	c.(4126-4128)tCg>tTg	p.S1376L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1376					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGGTAGAGCGACTTGCTGAG	0.587000														31			11		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207644806	207644806	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207644806G>A	uc001hfw.3	+	8	1651	c.1532G>A	c.(1531-1533)gGc>gAc	p.G511D	CR2_uc001hfv.3_Missense_Mutation_p.G511D|CR2_uc009xch.3_Missense_Mutation_p.G511D|CR2_uc009xci.1_Intron	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	511	Sushi 8.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAGTGTCAAGGCACAATTCCT	0.403000														147			55		0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64331852	64331852	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64331852G>A	uc001oai.3	+	4	1268	c.894G>A	c.(892-894)aaG>aaA	p.K298K	SLC22A11_uc001oah.1_Intron|SLC22A11_uc009ypq.3_Silent_p.K298K|SLC22A11_uc001oak.1_Silent_p.K127K	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	298					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	AGCTCAGAAAGGTGGCCAGGA	0.562000														49			20		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161015120	161015120	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:161015120C>T	uc003qtl.3	-	22	3619	c.3499G>A	c.(3499-3501)Gat>Aat	p.D1167N		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3675	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGTAGCAATCCTGGACCCCG	0.478000														69			43		0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6432347	6432347	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6432347G>A	uc001mdb.1	-	1	331	c.231C>T	c.(229-231)ctC>ctT	p.L77L	APBB1_uc001mdc.1_Silent_p.L77L|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	77					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CGGCCCGCCGGAGCTGGTTCT	0.677000														131			36		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17007100	17007100	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17007100C>T	uc002nfb.3	-	40	5486	c.5454G>A	c.(5452-5454)ggG>ggA	p.G1818G	CPAMD8_uc010xpj.1_5'UTR|CPAMD8_uc002nfd.1_Silent_p.G283G	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1771						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCAGGTCATCCCCGTAGGTGG	0.692000														22			11		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156810752	156810752	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156810752C>T	uc010pht.2	-	21	4106	c.3807G>A	c.(3805-3807)cgG>cgA	p.R1269R	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1269					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCAGGGAGCCCCGGGCCCCCC	0.627000														20			7		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31907063	31907063	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31907063C>T	uc011dor.2	+	5	990	c.726C>T	c.(724-726)atC>atT	p.I242I	CFB_uc003nyc.2_Silent_p.I182I|CFB_uc011doo.2_Silent_p.I149I|CFB_uc011dop.2_Silent_p.I181I|CFB_uc003nyf.3_Silent_p.I395I|CFB_uc010jtk.3_Silent_p.I263I|CFB_uc011doq.2_Silent_p.I366I|CFB_uc003nyh.2_Silent_p.I46I	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	408			I -> L (in AHUS4).		complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCAGAGAGATCCTGAACATCA	0.463000														131			9		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38877379	38877379	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38877379G>A	uc021yzh.1	+	64	9708	c.9599G>A	c.(9598-9600)aGg>aAg	p.R3200K	DNAH8_uc003ooe.2_Missense_Mutation_p.R2983K|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGCTGGCCAAGGGAGGCTCTG	0.448000														117			11		0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3811344	3811344	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3811344C>T	uc002lyw.2	-	14	2275	c.2263G>A	c.(2263-2265)Gat>Aat	p.D755N		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	755						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCACCTGCATCAGCCTGAGGC	0.642000														7			4		0	0	1	0	0
SPAG4	6676	broad.mit.edu	37	20	34206880	34206880	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34206880G>A	uc002xdb.1	+	7	870	c.753G>A	c.(751-753)gaG>gaA	p.E251E	SPAG4_uc010zvi.1_Silent_p.E174E	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	Homo sapiens sperm associated antigen 4 (SPAG4), mRNA.	251					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GGCTGAATGAGGATTTTGTGC	0.592000														50			18		0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	839621	839621	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:839621C>T	uc002ckf.4	+	2	659	c.596C>T	c.(595-597)cCc>cTc	p.P199L	RPUSD1_uc002cka.3_5'Flank|RPUSD1_uc002ckb.3_5'Flank|CHTF18_uc010uus.1_Missense_Mutation_p.P171L|CHTF18_uc010bre.1_Non-coding_Transcript|CHTF18_uc002cke.4_Missense_Mutation_p.P171L|CHTF18_uc010brf.3_5'UTR|CHTF18_uc002ckg.4_5'UTR	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.	171					DNA replication|cell cycle	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CTGAGGCGGCCCCCCATCTTG	0.677000														54			22		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119737566	119737566	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:119737566G>A	uc004bjt.2	-	8	1758	c.1657C>T	c.(1657-1659)Ccg>Tcg	p.P553S	ASTN2_uc022bml.1_Missense_Mutation_p.P249S|ASTN2_uc022bmm.1_Missense_Mutation_p.P253S	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	604						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCCACAGGCGGAACCACAAAG	0.552000														65			9		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087396	92087396	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92087396G>A	uc001pdj.4	+	0	2135	c.2118G>A	c.(2116-2118)ctG>ctA	p.L706L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	706					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGGGAAACTGAATCTGGAAG	0.403000										TCGA Ovarian(4;0.039)				114			34		0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220307845	220307845	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:220307845C>T	uc001hmc.3	+	14	2043	c.1939C>T	c.(1939-1941)Cct>Tct	p.P647S		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	647				P -> L (in Ref. 6; BAB14164).	isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GAAGAGAGCACCTTATAAGTA	0.458000														75			20		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21217225	21217225	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21217225G>A	uc003zor.1	-	0	86	c.80C>T	c.(79-81)cCt>cTt	p.P27L	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	27					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GTGAGTCTGAGGCAGATCACA	0.488000														113			30		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26868297	26868297	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:26868297G>A	uc001rhg.3	-	7	1207	c.790C>T	c.(790-792)Ctt>Ttt	p.L264F		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	264	MIR 3.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTCGTACGAAGGAAAATGTGC	0.373000														133			28		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59166535	59166535	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:59166535G>A	uc010dps.1	+	1	515	c.363G>A	c.(361-363)agG>agA	p.R121R	CDH20_uc002lif.2_Silent_p.R115R	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	121	Cadherin 1.				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)				CCATTCAGAGGCTCGACCGAG	0.552000														20			13		0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538663	4538663	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4538663G>A	uc002mau.3	-	1	344	c.333C>T	c.(331-333)ttC>ttT	p.F111F	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	111						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCCGCAGGAATTCGGGCG	0.652000														43			13		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37262227	37262227	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:37262227C>T	uc022abv.1	-	9	1483	c.773G>A	c.(772-774)aGg>aAg	p.R258K	ELMO1_uc011kbc.2_Missense_Mutation_p.R162K|ELMO1_uc003tfk.2_Missense_Mutation_p.R258K|ELMO1_uc010kxg.2_Missense_Mutation_p.R258K	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	258					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TACCTGCCTCCTCTCATCAGG	0.428000														79			19		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19713778	19713778	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:19713778G>A	uc002ykw.3	-	12	1547	c.1516C>T	c.(1516-1518)Ctt>Ttt	p.L506F		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	506					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.L506I(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCTGGATAAAGACTCCCATTG	0.383000														101			37		0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863470	55863470	+	Silent	SNP	G	A	A	rs147384913		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55863470G>A	uc010spn.2	-	0	453	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F151F(2)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						AAATGATCAGGAATCCAGTTA	0.368000														60			24		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87179256	87179256	+	Missense_Mutation	SNP	G	A	A	rs142600685	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87179256G>A	uc003uiz.2	-	13	1958	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	ABCB1_uc011khc.2_Missense_Mutation_p.R425C	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	489	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)	CGGCCATAGCGAATGTTTTCA	0.428000														225			29		0	0	1	0	0
HBM	3042	broad.mit.edu	37	16	216426	216426	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:216426G>A	uc002cfu.1	+	1	276	c.252G>A	c.(250-252)gcG>gcA	p.A84A		NM_001003938	NP_001003938	Q6B0K9	HBM_HUMAN	Homo sapiens hemoglobin, mu (HBM), mRNA.	84						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GCCCGCTGGCGGACCTGCACG	0.746000														7			4		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55145099	55145099	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55145099G>A	uc010ooe.1	+	11	2537	c.2213G>A	c.(2212-2214)aGg>aAg	p.R738K	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.R306K|HEATR8_uc010ood.1_Missense_Mutation_p.R256K|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.R738K|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	738						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						TACCGCCACAGGGCGCTGGAG	0.657000														40			11		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288529	77288529	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77288529C>T	uc003hkb.4	-	10	1901	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	583								p.R583Q(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCCAGCAGTTCGTCCATGCTG	0.458000														76			33		0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076588	87076588	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:87076588C>T	uc011lfy.2	-	1	458	c.458G>A	c.(457-459)gGa>gAa	p.G153E		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	153	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.G153*(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TGTAAAGGATCCCTGAGCAAT	0.488000														61			17		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113538213	113538213	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113538213C>T	uc022blv.1	+	9	1464	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.P363S|MUSK_uc022blu.1_Missense_Mutation_p.P353S	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	444	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GCATTGGGACCCCACGGCCTG	0.488000														210			14		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575346	136575346	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136575346C>T	uc002tuu.1	-	5	1283	c.1272G>A	c.(1270-1272)gcG>gcA	p.A424A		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	424	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.A424E(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCTCCAGCGTCGCTTGGCCCT	0.632000														93			30		0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020463	56020463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56020463G>A	uc010rjd.2	+	0	788	c.788G>A	c.(787-789)gGa>gAa	p.G263E		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G263R(1)|p.K262N(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TCTGCTAAGGGAAGGCAAAAG	0.408000														168			65		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14106581	14106581	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:14106581C>T	uc001avi.3	+	7	3147	c.2291C>T	c.(2290-2292)aCc>aTc	p.T764I	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.T764I|PRDM2_uc021ogk.1_Missense_Mutation_p.T527I|PRDM2_uc001avk.3_Missense_Mutation_p.T563I|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	764						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCAGCATGGACCGATGCCGGG	0.517000														116			12		0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3386026	3386026	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3386026C>T	uc001akg.4	+	5	1139	c.891C>T	c.(889-891)ttC>ttT	p.F297F	ARHGEF16_uc001aki.3_Silent_p.F9F|ARHGEF16_uc001akj.3_Silent_p.F9F|ARHGEF16_uc009vli.1_5'Flank|ARHGEF16_uc010nzh.2_5'Flank	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	297	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGTCGGAGTTCTCCTACCAGC	0.627000														63			18		0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78084749	78084749	+	Missense_Mutation	SNP	G	A	A	rs121907937		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:78084749G>A	uc002jxp.3	+	10	1928	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	GAA_uc002jxo.3_Missense_Mutation_p.E521K|GAA_uc002jxq.3_Missense_Mutation_p.E521K	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	521			E -> K (in GSD2; severe).		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GGACATGAACGAGCCTTCCAA	0.632000														59			7		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313535	54313535	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54313535C>T	uc002qcj.4	-	2	1598	c.1378G>A	c.(1378-1380)Ggg>Agg	p.G460R	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.G460R|NLRP12_uc002qci.4_Missense_Mutation_p.G460R|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G460R	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	460	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAGCACAACCCTCTCTGGTTG	0.617000														79			38		0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60711204	60711204	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60711204G>A	uc001nqn.2	-	2	1187	c.953C>T	c.(952-954)cCc>cTc	p.P318L	SLC15A3_uc001nqo.2_Missense_Mutation_p.P318L	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	318					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CACCATGACGGGCAAGATCTT	0.612000														18			6		0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133911710	133911710	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:133911710G>A	uc004caa.1	+	3	1065	c.967G>A	c.(967-969)Gag>Aag	p.E323K		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	323	Laminin EGF-like 1.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGCTGCCCACGAGTGTCTGCG	0.677000														43			14		0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38051357	38051357	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38051357C>T	uc003ati.3	+	17	2510	c.1772C>T	c.(1771-1773)cCc>cTc	p.P591L	SH3BP1_uc003atg.1_Intron|SH3BP1_uc003ath.1_Intron|SH3BP1_uc003atj.1_Intron|SH3BP1_uc003atk.1_Intron|AK097791_uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	591					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCAGCCCCGCCCTTGCCCCCT	0.741000														8			6		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41066305	41066305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41066305C>T	uc002ony.3	+	26	5997	c.5911C>T	c.(5911-5913)Ccc>Tcc	p.P1971S	SPTBN4_uc002onx.3_Missense_Mutation_p.P1971S|SPTBN4_uc002onz.3_Missense_Mutation_p.P1971S|SPTBN4_uc010egx.3_Missense_Mutation_p.P714S|SPTBN4_uc002ooa.3_Missense_Mutation_p.P647S	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1971					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCCGACAAGCCCAGGTGCCC	0.657000														45			36		0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98351872	98351872	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:98351872G>A	uc002syd.1	+	9	1449	c.1242G>A	c.(1240-1242)atG>atA	p.M414I	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.M304I|ZAP70_uc002syf.1_Missense_Mutation_p.M107I	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	414	Protein kinase.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TGCTGGTCATGGAGATGGCTG	0.677000														152			25		0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31611188	31611188	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31611188G>A	uc002wyj.3	+	15	1570	c.1376G>A	c.(1375-1377)tGa>tAa	p.*459*		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	0						extracellular region	lipid binding										TACCAGAGCTGAGGCAAGACC	0.567000														58			9		0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155004051	155004051	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155004051G>A	uc001fgm.3	-	4	819	c.739_splice	c.e4+1	p.L247_splice	DCST2_uc009wpb.3_Splice_Site|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	247						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTTTCTCACGGCTGGCAAGTC	0.602000														59			26		0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987943	50987944	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50987943_50987944GG>AA	uc003bmi.3	+	0	1482_1483	c.1348_1349GG>AA	c.(1348-1350)ggg>AAg	p.G450K		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	Homo sapiens kelch domain containing 7B (KLHDC7B), mRNA.	450										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCCTGCCGTGGGGACATCTAC	0.673000														77			32		0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31466345	31466345	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:31466345G>A	uc003jhg.2	-	17	2769	c.2410C>T	c.(2410-2412)Cta>Tta	p.L804L	DROSHA_uc003jhh.2_Silent_p.L767L|DROSHA_uc003jhi.2_Silent_p.L767L	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	804	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CTATTTGCTAGGAGGTGGCGA	0.428000														89			19		0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26689615	26689615	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26689615G>A	uc001bmg.1	-	4	1163	c.1045C>T	c.(1045-1047)Cca>Tca	p.P349S	ZNF683_uc001bmh.1_Missense_Mutation_p.P349S|ZNF683_uc009vsj.1_Missense_Mutation_p.P349S	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CACTGGAATGGACGCTCTCCA	0.602000														15			5		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135015029	135015029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:135015029G>A	uc001llz.1	+	16	3015	c.3014G>A	c.(3013-3015)aGg>aAg	p.R1005K	KNDC1_uc001lma.1_Missense_Mutation_p.R940K|KNDC1_uc001lmb.1_Missense_Mutation_p.R417K	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1005					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCCATGGCCAGGACCAGCAGC	0.627000														110			49		0	0	1	0	0
TRBV19	28568	broad.mit.edu	37	7	142326879	142326879	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142326879G>A	uc003vzo.2	+	1	372	c.177G>A	c.(175-177)ggG>ggA	p.G59G	TRBV5-1_uc011krr.1_Intron|TRBV19_uc022anp.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGGACCCAGGGCAAGGGCTGA	0.473000														136			44		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33891923	33891923	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:33891923G>A	uc003jia.1	-	0	202	c.39C>T	c.(37-39)tcC>tcT	p.S13S	ADAMTS12_uc010iuq.1_Silent_p.S13S|ADAMTS12_uc003jib.1_Silent_p.S13S	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	13					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L12F(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAGCCACCACGGAAAGGTTTG	0.522000										HNSCC(64;0.19)				97			52		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860953	16860953	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16860953C>T	uc002neu.4	+	5	1922	c.1500C>T	c.(1498-1500)ggC>ggT	p.G500G	NWD1_uc002net.4_Silent_p.G365G|NWD1_uc002nev.4_Silent_p.G294G|NWD1_uc021uqg.1_Silent_p.G365G	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	500	NACHT.						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						GAAACCAAGGCCAGCAGATGA	0.637000														83			9		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168838897	168838897	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:168838897G>A	uc011bpj.1	-	6	1482	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	MECOM_uc010hwk.1_Missense_Mutation_p.S195L|MECOM_uc003ffj.3_Missense_Mutation_p.S237L|MECOM_uc003ffi.3_Missense_Mutation_p.S172L|MECOM_uc011bpi.1_Missense_Mutation_p.S173L|MECOM_uc003ffn.3_Missense_Mutation_p.S172L|MECOM_uc003ffk.2_Missense_Mutation_p.S172L|MECOM_uc003ffl.2_Missense_Mutation_p.S332L|MECOM_uc011bpk.1_Missense_Mutation_p.S172L|MECOM_uc010hwn.2_Missense_Mutation_p.S360L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.S172L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAGGCCCGACGAAGTGGCAAA	0.552000														59			13		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212638	26212638	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:26212638C>T	uc022buc.1	+	0	675	c.675C>T	c.(673-675)gtC>gtT	p.V225V	MAGEB6_uc004dbr.3_Silent_p.V225V	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	225	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGAAGTGTGTCCGCAGAGAGT	0.478000														22			33		0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157186322	157186322	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:157186322G>A	uc002tyz.4	-	2	799	c.377C>T	c.(376-378)tCg>tTg	p.S126L	NR4A2_uc021vri.1_Missense_Mutation_p.S126L|NR4A2_uc002tyx.4_Missense_Mutation_p.S63L|NR4A2_uc010zcf.2_Missense_Mutation_p.S126L|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	126	Gln-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CGTCGGGGGCGAGGAGGGCTT	0.622000														85			50		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206050515	206050515	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:206050515C>T	uc002var.2	+	13	2159	c.1952C>T	c.(1951-1953)gCc>gTc	p.A651V	PARD3B_uc010fub.2_Missense_Mutation_p.A651V|PARD3B_uc002vao.2_Missense_Mutation_p.A651V|PARD3B_uc002vap.2_Missense_Mutation_p.A589V|PARD3B_uc002vaq.2_Missense_Mutation_p.A651V	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	651					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GACGGATGGGCCGAGAGTGAA	0.438000														94			40		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537328	55537328	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55537328C>T	uc003xsd.1	+	3	1034	c.886C>T	c.(886-888)Cct>Tct	p.P296S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	296					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCTTTTGTTCCTGAAAAGTA	0.318000														55			17		0	0	1	0	0
TNFSF18	8995	broad.mit.edu	37	1	173010692	173010692	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:173010692G>A	uc001giu.2	-	2	416	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.	139					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						TTTTTATACAGCCGCACCTCA	0.383000														81			23		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39432079	39432079	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:39432079C>T	uc001uwv.3	+	12	7433	c.7124C>T	c.(7123-7125)cCt>cTt	p.P2375L	FREM2_uc001uww.3_Missense_Mutation_p.P461L	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2375					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.P2375S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCTTCTGTCCCTCAAATTGTA	0.428000														131			30		0	0	1	0	0
HORMAD2	150280	broad.mit.edu	37	22	30489904	30489904	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:30489904G>A	uc003agy.3	+	2	29	c.-36_splice	c.e2-1			NM_152510	NP_689723	Q8N7B1	HORM2_HUMAN	Homo sapiens HORMA domain containing 2 (HORMAD2), mRNA.						meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			ttttttaataGGTTGGACTTG	0.338000														10			8		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036318	71036318	+	Silent	SNP	C	T	T	rs144325682		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:71036318C>T	uc003tvy.3	+	5	1011	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	WBSCR17_uc003tvz.3_Silent_p.F36F	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	337	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGAAGTTCTTCGGTGAAATTG	0.507000														87			29		0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18258340	18258341	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:18258340_18258341GG>AA	uc022asl.1	+	0	827_828	c.827_828GG>AA	c.(826-828)ggg>gAA	p.G276E	NAT2_uc003wyw.1_Missense_Mutation_p.G276E	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	276					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		ATTTCCTTGGGGAGAAATCTCG	0.356000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					56			21		0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95683710	95683710	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:95683710C>T	uc003ygq.4	+	10	1446	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	ESRP1_uc003ygr.4_Silent_p.L421L|ESRP1_uc003ygs.4_Silent_p.L421L|ESRP1_uc003ygt.4_Silent_p.L421L|ESRP1_uc003ygu.4_Silent_p.L421L|ESRP1_uc003ygv.3_Silent_p.L261L|ESRP1_uc003ygw.3_Silent_p.L261L	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	421					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CGGCCCCTCTCATTCCACTTC	0.483000														82			16		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241976665	241976665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241976665G>A	uc002wah.1	+	5	940	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	314	EGF-like 2.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AGACGTGAACGAATGTGCCTC	0.627000														12			6		0	0	1	0	0
SIAH3	283514	broad.mit.edu	37	13	46358047	46358047	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:46358047T>A	uc001vap.3	-	1	363	c.281A>T	c.(280-282)gAg>gTg	p.E94V		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA.	94	His-rich.				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CAGCCCCGCCTCCtggtggtg	0.692000														36			17		0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18856637	18856637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18856637C>T	uc010ebv.3	+	3	384	c.296C>T	c.(295-297)cCc>cTc	p.P99L	CRTC1_uc002nkb.4_Missense_Mutation_p.P83L|CRTC1_uc010ebw.3_5'Flank	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	83					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CCCCAGACCCCCTTCCAATCC	0.662000														149			34		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16256617	16256617	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16256617C>T	uc001axk.1	+	10	4086	c.3882C>T	c.(3880-3882)gtC>gtT	p.V1294V	SPEN_uc010obp.1_Silent_p.V1253V	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1294					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)		ATGAAAAAGTCCTCCCCTATT	0.428000														90			34		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110829374	110829374	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:110829374G>A	uc001vqw.4	-	33	2849	c.2727C>T	c.(2725-2727)ggC>ggT	p.G909G		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	909	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGCCCGGAAAGCCATGGTCCC	0.592000														49			18		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134920412	134920414	+	Missense_Mutation	DNP	CG	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:134920412_134920414CG>TA	uc003eqt.3	+	11	2602_2604	c.2227_2229CG>TA	c.(2227-2229)cgg>TA	p.R743del	EPHB1_uc003equ.3_Missense_Mutation_p.R304del	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	743	Protein kinase.		R -> Q (in a gastric adenocarcinoma sample; somatic mutation).			integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R743W(3)|p.R743Q(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTATGTGCATCGGGACCTGGCTG	0.547000														182			40		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84585980	84585980	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:84585980C>T	uc004eer.2	-	6	975	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	POF1B_uc004ees.3_Missense_Mutation_p.E277K	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	277							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TGCAAATGTTCTAATAAGCAG	0.363000														23			19		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106153205	106153205	+	Missense_Mutation	SNP	G	A	A	rs61732088	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106153205G>A	uc001kyh.3	+	10	1780	c.1646G>A	c.(1645-1647)cGa>cAa	p.R549Q		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	549								p.R549Q(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAACAGCAGCGAATAGAAAAG	0.453000														33			14		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548670	20548670	+	Silent	SNP	C	T	T	rs71811918		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20548670C>T	uc002dhj.4	-	14	1854	c.1644G>A	c.(1642-1644)ttG>ttA	p.L548L	ACSM2B_uc002dhk.4_Silent_p.L548L	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	548					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGGGCAGGTTCAAGACAAACT	0.493000														162			85		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6759299	6759299	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:6759299C>T	uc002wmu.1	+	2	1539	c.754C>T	c.(754-756)Caa>Taa	p.Q252*		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	252					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	GTCTTTGCACCAAGATGAACA	0.483000														31			10		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081480	152081480	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152081480C>T	uc009wne.1	-	2	4485	c.4213G>A	c.(4213-4215)Gag>Aag	p.E1405K	TCHH_uc001ezp.2_Missense_Mutation_p.E1405K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1405	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.R1404R(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGTTGCTCGCGCTCCTGG	0.577000														135			46		0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53586454	53586454	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:53586454G>A	uc003xre.4	-	6	1511	c.953C>T	c.(952-954)cCt>cTt	p.P318L	RB1CC1_uc003xrf.4_Missense_Mutation_p.P318L	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	318					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CACATCATTAGGTCTATCTTG	0.338000														55			14		0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120922487	120922487	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:120922487G>A	uc002tmg.3	+	22	2153	c.1962_splice	c.e22+1	p.Q654_splice	EPB41L5_uc010fll.3_Splice_Site_p.Q654_splice|EPB41L5_uc010flm.3_Splice_Site_p.Q458_splice	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	654						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TGCACCTCAGGTAAATATGCT	0.328000														67			25		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436263	248436263	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248436263G>A	uc010pzi.2	-	0	854	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P285L(2)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			GTAGATGAGGGGGTTTAGTAA	0.478000														232			47		0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4841445	4841445	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:4841445G>A	uc003snj.1	-	11	2854	c.2681C>T	c.(2680-2682)cCc>cTc	p.P894L	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_Missense_Mutation_p.P399L|RADIL_uc011jwc.1_Missense_Mutation_p.P654L|RADIL_uc011jwd.1_Non-coding_Transcript|RADIL_uc003snh.1_Missense_Mutation_p.P190L	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	894	Pro-rich.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGTGTGCGGGGGGCCAGCCTG	0.726000														14			12		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3712680	3712680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:3712680G>A	uc001lyh.3	-	27	4772	c.4351C>T	c.(4351-4353)Cct>Tct	p.P1451S	NUP98_uc001lyi.3_Missense_Mutation_p.P1451S|NUP98_uc001lyg.3_Missense_Mutation_p.P416S	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1468					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity	p.P1451S(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGATACGAAGGAAGTGGGGAG	0.428000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									57			11		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10089688	10089688	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10089688C>T	uc003buw.3	+	15	1444	c.1366C>T	c.(1366-1368)Ctc>Ttc	p.L456F	FANCD2_uc003bux.1_Missense_Mutation_p.L456F|FANCD2_uc003buy.1_Missense_Mutation_p.L456F|FANCD2_uc010hcw.1_5'Flank	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	456			L -> R (in dbSNP:rs35782247).		DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATTTGGCAGTCTCCTATACAA	0.393000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					225			14		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55281307	55281307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55281307C>T	uc010erz.1	+	0	43	c.5C>T	c.(4-6)tCg>tTg	p.S2L	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Missense_Mutation_p.S2L	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	2					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AGCACCATGTCGCTCTTGGTC	0.587000											OREG0003674	type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		89			24		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595213	55595213	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55595213G>A	uc001nhy.1	+	0	519	c.519G>A	c.(517-519)gtG>gtA	p.V173V		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V173V(2)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GATCTAATGTGATTAACCACT	0.478000										HNSCC(27;0.073)				227			78		0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340191	55340191	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55340191C>T	uc010rih.2	+	0	588	c.588C>T	c.(586-588)ctC>ctT	p.L196L		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTAACCTACTCCTGGTTTCCA	0.443000														72			33		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176210	57176210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57176210G>A	uc010ygn.2	-	1	584	c.357C>T	c.(355-357)ttC>ttT	p.F119F		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.									p.S119S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AACAGTAGCTGAAGGCCTTCC	0.632000														123			12		0	0	1	0	0
SPRR2D	6703	broad.mit.edu	37	1	153012737	153012737	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153012737G>A	uc021ozq.1	-	0	86	c.86C>T	c.(85-87)cCc>cTc	p.P29L	SPRR2D_uc001fbb.2_Missense_Mutation_p.P29L	NM_006945	NP_008876	P22532	SPR2D_HUMAN	Homo sapiens small proline-rich protein 2D (SPRR2D), mRNA.	29	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCACTTCGGGGGTGGACATGG	0.612000														123			68		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53009975	53009975	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53009975C>T	uc001sas.3	-	1	672	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	213	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.E213*(2)|p.R212H(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCACCACTTCGCGCACGCTC	0.627000														127			27		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55003839	55003839	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:55003839G>A	uc003dhf.3	+	28	2572	c.2524G>A	c.(2524-2526)Gat>Aat	p.D842N	CACNA2D3_uc003dhg.1_Missense_Mutation_p.D748N|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	842						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGCTTCCCTGGATGGCAAATG	0.512000														29			24		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140416159	140416159	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140416159C>T	uc010ncj.1	-	9	1223	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	PNPLA7_uc011mfa.1_Missense_Mutation_p.V2M|PNPLA7_uc004cnf.2_Missense_Mutation_p.V271M	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	271					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGCAGCCGCACCATGATGATC	0.617000														45			14		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40854424	40854424	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:40854424C>T	uc003jmg.3	+	2	3065	c.2990C>T	c.(2989-2991)cCc>cTc	p.P997L		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	997	Pro-rich.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CCAAGCCAGCCCTGGCCTCCC	0.527000														343			125		0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43585168	43585168	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43585168C>T	uc002ovr.3	-	1	467	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	99	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TATGCTGTTTCTCGTCCACTA	0.453000														341			123		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631964	156631964	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:156631964C>T	uc003iov.3	+	6	1183	c.647C>T	c.(646-648)cCc>cTc	p.P216L	GUCY1A3_uc003iou.2_Missense_Mutation_p.P216L|GUCY1A3_uc010iqc.2_Missense_Mutation_p.P216L|GUCY1A3_uc010iqd.3_Missense_Mutation_p.P215L|GUCY1A3_uc003iow.3_Missense_Mutation_p.P216L|GUCY1A3_uc003iox.3_Missense_Mutation_p.P216L|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Missense_Mutation_p.P216L|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.P216L	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	216					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTGATTCTTCCCGGCATCATA	0.463000														92			43		0	0	1	0	0
GPR27	2850	broad.mit.edu	37	3	71803815	71803815	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:71803815C>T	uc011bge.2	+	0	615	c.615C>T	c.(613-615)ctC>ctT	p.L205L	EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_5'UTR	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA.	205						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TCCGCCTGCTCTTCTTCATCC	0.761000														11			3		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017381	93017381	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:93017381C>T	uc022axs.1	-	5	1067	c.880G>A	c.(880-882)Gat>Aat	p.D294N	RUNX1T1_uc003yfc.2_Missense_Mutation_p.D208N|RUNX1T1_uc010mam.3_Missense_Mutation_p.D208N|RUNX1T1_uc003yfe.2_Missense_Mutation_p.D198N|RUNX1T1_uc003yfd.3_Missense_Mutation_p.D235N|RUNX1T1_uc022axo.1_Missense_Mutation_p.D235N|RUNX1T1_uc010mao.3_Missense_Mutation_p.D208N|RUNX1T1_uc011lgi.2_Missense_Mutation_p.D246N|RUNX1T1_uc022axp.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axq.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axr.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axt.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axu.1_Missense_Mutation_p.D215N|RUNX1T1_uc022axv.1_Missense_Mutation_p.D235N|RUNX1T1_uc003yfb.2_Missense_Mutation_p.D198N|RUNX1T1_uc003yff.1_Missense_Mutation_p.D198N	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	235	Poly-Pro.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCGTTCACATCGAGAAGCAGC	0.552000														119			24		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26165144	26165144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26165144G>A	uc003abz.1	+	3	1511	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	MYO18B_uc003aca.1_Missense_Mutation_p.E302K|MYO18B_uc010guy.1_Missense_Mutation_p.E302K|MYO18B_uc010guz.1_Missense_Mutation_p.E302K|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	421						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						AGCCCCAAAGGAGGTGAGCAC	0.607000														18			6		0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105219820	105219820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:105219820G>A	uc003pqu.1	-	17	2271	c.1994C>T	c.(1993-1995)tCc>tTc	p.S665F	HACE1_uc010kcy.1_Missense_Mutation_p.S147F|HACE1_uc010kcz.1_Intron|HACE1_uc010kcx.1_Missense_Mutation_p.S74F|HACE1_uc003pqt.1_Missense_Mutation_p.S318F	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	665	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTTGTAGAAGGATCGTGTGAA	0.363000														48			28		0	0	1	0	0
EIF5AL1	143244	broad.mit.edu	37	10	81272723	81272724	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81272723_81272724GG>AA	uc009xrx.3	+	0	367_368	c.318_319GG>AA	c.(316-321)ggggag>ggAAag	p.E107K	AK302451_uc010qls.1_5'Flank	NM_001099692	NP_001093162	Q6IS14	IF5AL_HUMAN	Homo sapiens eukaryotic translation initiation factor 5A-like 1 (EIF5AL1), mRNA.	107					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGGACAGCGGGGAGGTACCAGA	0.535000														99			9		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115456614	115456614	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:115456614G>A	uc001efr.3	+	19	1875	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E556K|SYCP1_uc009wgw.3_Missense_Mutation_p.E556K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	556					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)		AAAGCAAGAAGAAAGGATGTT	0.244000														48			19		0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50684298	50684298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50684298G>A	uc001jhs.4	-	11	2499	c.2345C>T	c.(2344-2346)tCc>tTc	p.S782F	ERCC6_uc009xod.3_5'UTR|ERCC6_uc010qgr.2_Missense_Mutation_p.S152F|ERCC6_uc001jhr.4_Intron	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	782					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AACTTCTTTGGAATCAACGAA	0.378000								Direct reversal of damage;Nucleotide excision repair (NER)						76			21		0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94845910	94845910	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94845910C>T	uc001ycy.4	-	5	1510	c.956G>A	c.(955-957)gGa>gAa	p.G319E	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Missense_Mutation_p.G319E|SERPINA1_uc010auy.3_Missense_Mutation_p.G319E|SERPINA1_uc001ycz.4_Missense_Mutation_p.G319E|SERPINA1_uc010auz.3_Missense_Mutation_p.G319E|SERPINA1_uc010ava.3_Missense_Mutation_p.G319E|SERPINA1_uc001ydb.4_Missense_Mutation_p.G319E|SERPINA1_uc010avb.3_Missense_Mutation_p.G319E|SERPINA1_uc001ydc.4_Missense_Mutation_p.G319E|SERPINA1_uc010auw.3_Missense_Mutation_p.G319E|SERPINA1_uc010aux.3_Missense_Mutation_p.G319E|SERPINA1_uc001yda.1_Missense_Mutation_p.G319E	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	319					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	p.G319V(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	ATCATAGGTTCCAGTAATGGA	0.522000														137			13		0	0	1	0	0
OR1L6	392390	broad.mit.edu	37	9	125513025	125513025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125513025G>A	uc022bna.1	+	0	899	c.899G>A	c.(898-900)aGg>aAg	p.R300K		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA.	336					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R336T(1)		breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GATATGAAGAGGGGTTTGAAG	0.408000														42			21		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513219	61513219	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61513219G>A	uc002ydr.2	-	15	4401	c.4089C>T	c.(4087-4089)atC>atT	p.I1363I	DIDO1_uc002yds.2_Silent_p.I1363I	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1363					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACTGCTGGACGATCGGATCTA	0.622000														128			57		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32239700	32239700	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:32239700C>T	uc011alu.2	+	28	2905	c.2703C>T	c.(2701-2703)ttC>ttT	p.F901F	DEPDC5_uc011als.2_Silent_p.F823F|DEPDC5_uc003als.3_Silent_p.F892F|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.F892F|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Silent_p.F341F|DEPDC5_uc011alw.1_Silent_p.F222F|DEPDC5_uc003alw.3_Silent_p.F190F|DEPDC5_uc011alx.2_Intron|DEPDC5_uc010gwk.3_5'Flank	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	892					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACTCAGAGTTCGTCTCCTGCT	0.493000														100			46		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57865728	57865728	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57865728G>A	uc001snx.3	+	11	3299	c.3205G>A	c.(3205-3207)Ggc>Agc	p.G1069S	GLI1_uc021qzi.1_Missense_Mutation_p.G1028S|GLI1_uc009zpq.3_Missense_Mutation_p.G941S	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	1069					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGATCAGCGGGGCAGCTCTGG	0.572000														198			16		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149509438	149509438	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149509438C>T	uc003lro.3	-	9	1930	c.1461G>A	c.(1459-1461)caG>caA	p.Q487Q	PDGFRB_uc010jhd.3_Silent_p.Q326Q	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	487	Ig-like C2-type 5.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTCAAACTCCTGCTCCTCCT	0.647000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			42		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161152234	161152234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:161152234C>T	uc003qtm.4	+	10	1520	c.1408C>T	c.(1408-1410)Ctt>Ttt	p.L470F		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	470					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGTTGTCCTGCTTCCAGATGT	0.498000														54			11		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169282328	169282328	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169282328C>T	uc021xuh.1	-	35	5073	c.4963G>A	c.(4963-4965)Gat>Aat	p.D1655N	DDX60L_uc003irq.4_Missense_Mutation_p.D1655N	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1655							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AATGCAAAATCTTTCAAACAC	0.289000														18			5		0	0	1	0	0
EVX2	344191	broad.mit.edu	37	2	176946975	176946975	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:176946975C>T	uc010zeu.2	-	1	816	c.630G>A	c.(628-630)gaG>gaA	p.E210E		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	210						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E210K(2)|p.R209R(1)		kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		ACACATAGTTCTCCCGGTAGA	0.662000														19			9		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87179319	87179319	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87179319C>T	uc003uiz.2	-	13	1895	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	ABCB1_uc011khc.2_Missense_Mutation_p.E404K	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	468	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	p.R467W(4)|p.R467L(2)		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)	CCAATGATTTCCCGTAGAAAC	0.408000														110			36		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825119	4825119	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4825119G>A	uc021qcs.1	-	0	492	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAGACACCATGAAGCAGAAGG	0.547000														78			12		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51189562	51189562	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51189562C>T	uc002psx.1	-	19	2528	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K	SHANK1_uc002psw.1_Missense_Mutation_p.E221K	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	837					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCAGGGCTTTCGCTTGCACTG	0.562000														57			26		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369418	22369418	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22369418C>T	uc010tzu.2	+	0	941	c.843C>T	c.(841-843)ttC>ttT	p.F281F	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTTTAATATTCCCTTTACGTA	0.378000														77			6		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16033188	16033188	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16033188G>A	uc002nbu.2	-	7	1007	c.971C>T	c.(970-972)aCc>aTc	p.T324I	CYP4F11_uc010eab.1_Missense_Mutation_p.T324I|CYP4F11_uc002nbt.2_Missense_Mutation_p.T324I	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	324					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AAACATGAAGGTGTCAGCTTC	0.527000														163			59		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7310146	7310146	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7310146C>T	uc001qss.3	+	15	3163	c.2625C>T	c.(2623-2625)gtC>gtT	p.V875V	CLSTN3_uc001qsr.3_Silent_p.V863V|CLSTN3_uc001qst.3_Silent_p.V271V	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	863					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.H874Y(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGCTCATGGTCGTCCTGGGCC	0.662000														26			11		0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162280578	162280578	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:162280578G>A	uc002ubw.1	+	5	2191	c.1889G>A	c.(1888-1890)gGg>gAg	p.G630E	TBR1_uc010foy.2_Missense_Mutation_p.G343E	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	630						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						AGCGACTCGGGGATTTACGAG	0.687000														15			3		0	0	1	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975359	32975359	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32975359C>T	uc003ocr.3	-	2	418	c.342G>A	c.(340-342)cgG>cgA	p.R114R	HLA-DOA_uc010juj.3_Silent_p.R84R|HLA-DOA_uc010jui.3_Silent_p.R114R	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	114	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GCACGGTCACCCGTGGAGGCA	0.597000														86			46		0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629548	1629548	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1629548C>T	uc001ltw.1	-	0	146	c.68G>A	c.(67-69)gGc>gAc	p.G23D	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	23						keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGAGCCACAGCCCCCACAGCT	0.662000														142			67		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121428052	121428052	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121428052C>T	uc001pxx.3	+	18	2730	c.2601C>T	c.(2599-2601)ctC>ctT	p.L867L		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	867					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.R866*(2)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACTTCCGACTCACAATCGTCA	0.527000														106			34		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024624	76024624	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:76024624C>T	uc010kbe.3	-	5	1463	c.933G>A	c.(931-933)tcG>tcA	p.S311S	FILIP1_uc003phy.1_Silent_p.S308S|FILIP1_uc003phz.3_Silent_p.S209S|FILIP1_uc003pia.3_Silent_p.S308S|FILIP1_uc003pib.1_Silent_p.S60S	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	308										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAGAAAACCTCGAAGCCTTGT	0.418000														60			40		0	0	1	0	0
C9orf24	84688	broad.mit.edu	37	9	34381390	34381390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:34381390C>T	uc003zuh.1	-	3	667	c.449G>A	c.(448-450)aGg>aAg	p.R150K	C9orf24_uc003zug.1_Missense_Mutation_p.R15K|C9orf24_uc022bgb.1_Missense_Mutation_p.R15K|C9orf24_uc003zuf.1_Missense_Mutation_p.R15K|C9orf24_uc003zui.1_Missense_Mutation_p.R15K	NM_032596	NP_115985	Q8NCR6	CI024_HUMAN	Homo sapiens chromosome 9 open reading frame 24 (C9orf24), transcript variant 1, mRNA.	150										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		CCGCTCCGGCCTAGGAGGGCA	0.617000														117			36		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11231096	11231096	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11231096C>T	uc002mqk.4	+	13	2225	c.2038C>T	c.(2038-2040)Ctg>Ttg	p.L680L	LDLR_uc010xlk.2_Silent_p.L680L|LDLR_uc010xll.2_Silent_p.L639L|LDLR_uc021upc.1_Silent_p.L559L|LDLR_uc010xln.2_Intron|LDLR_uc010xlo.2_Silent_p.L512L|LDLR_uc010xlm.2_Silent_p.L533L|LDLR_uc021upd.1_Silent_p.L417L	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	680	EGF-like 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.?(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)	CTGCCAGTATCTGTGCCTCCC	0.622000														72			15		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10353916	10353916	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10353916G>A	uc002gmn.3	-	29	4146	c.4035C>T	c.(4033-4035)gaC>gaT	p.D1345D	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1345					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						CCCGCAGCAGGTCACAGTCAT	0.532000														45			39		0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155719427	155719427	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155719427C>T	uc003ioo.3	+	2	789	c.616C>T	c.(616-618)Cca>Tca	p.P206S	RBM46_uc011cim.1_Missense_Mutation_p.P206S|RBM46_uc003iop.1_Missense_Mutation_p.P206S	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	206	RRM 2.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GAAACTAATTCCAGGTAAACT	0.338000														55			14		0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899198	233899198	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233899198C>T	uc010zmn.2	+	1	574	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	192							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		AAGGCCGATCCCCTCTGCCTT	0.657000														70			38		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985474	140985474	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140985474C>T	uc011mwp.2	+	7	1788	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	MAGEC3_uc004fbs.3_Missense_Mutation_p.P346S|MAGEC3_uc010nsj.3_Missense_Mutation_p.P346S|MAGEC3_uc022cfh.1_Missense_Mutation_p.P346S	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	596	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTATCATCCCTAGTGCCT	0.473000														41			64		0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188956634	188956634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:188956634C>T	uc003frv.2	+	8	1642	c.415C>T	c.(415-417)Cct>Tct	p.P139S	TPRG1_uc003frw.2_Missense_Mutation_p.P139S	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	139										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		GCAGCGGATTCCTCTGAGCGC	0.478000														99			36		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004313	187004313	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187004313C>T	uc003iyq.3	+	3	1574	c.1473C>T	c.(1471-1473)gcC>gcT	p.A491A	TLR3_uc011ckz.2_Silent_p.A214A|TLR3_uc003iyr.3_Silent_p.A214A	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	491					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GAAGGGTGGCCCTTAAAAATG	0.448000														92			50		0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54956501	54956501	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:54956501C>T	uc004dtq.3	+	11	3451	c.3344C>T	c.(3343-3345)aCc>aTc	p.T1115I	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Missense_Mutation_p.T646I|TRO_uc004dtw.3_Missense_Mutation_p.T718I|TRO_uc004dtx.3_Missense_Mutation_p.T498I	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	1115	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCACTTAGTACCGCTGCTGAC	0.582000														13			33		0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93098047	93098047	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:93098047C>T	uc003umv.2	-	7	855	c.555G>A	c.(553-555)ctG>ctA	p.L185L	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Silent_p.L167L|CALCR_uc003umw.2_Silent_p.L167L	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	167					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.H184L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CGAAAATCCCCAGGGAAATCA	0.383000														63			13		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81134856	81134856	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:81134856G>A	uc002fgh.1	-	44	7246	c.7246C>T	c.(7246-7248)Ctg>Ttg	p.L2416L	PKD1L2_uc002fgf.1_Silent_p.L218L|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2418	Interaction with GNAS and GNAI1.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATTTTCATCAGCAGCAAATCT	0.522000														39			15		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161173184	161173184	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:161173184C>T	uc003qtm.4	+	17	2275	c.2163C>T	c.(2161-2163)ctC>ctT	p.L721L		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	721	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAGCCCAGCTCCCTGTGATTG	0.468000														39			17		0	0	1	0	0
LOC100132247	0	broad.mit.edu	37	16	21858755	21858755	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21858755G>A	uc002djr.3	-	3	410	c.228C>T	c.(226-228)acC>acT	p.T76T	LOC100132247_uc002djs.3_Non-coding_Transcript|LOC100132247_uc002djq.3_Silent_p.T57T|LOC100132247_uc010vbn.1_Silent_p.T76T	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		CTATCCAGAGGGTAATGACAA	0.353000														93			14		0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211163245	211163245	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:211163245G>A	uc002vec.3	-	2	332	c.203C>T	c.(202-204)tCc>tTc	p.S68F	MYL1_uc002veb.3_Missense_Mutation_p.S24F	NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	68	EF-hand 1.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GGTGATCTTGGAATCACCTGT	0.448000														59			35		0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58000757	58000757	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:58000757G>A	uc001sow.1	+	4	448	c.111G>A	c.(109-111)ctG>ctA	p.L37L	DTX3_uc001sov.1_Silent_p.L30L|DTX3_uc001sox.1_Silent_p.L30L|DTX3_uc001soy.1_Silent_p.L30L	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	Homo sapiens deltex homolog 3 (Drosophila) (DTX3), mRNA.	37					Notch signaling pathway	cytoplasm	zinc ion binding	p.R36L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CAGCCCGGCTGGCCCGGCTTC	0.607000														330			47		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79028820	79028820	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:79028820C>T	uc003kgc.3	+	1	4304	c.4232C>T	c.(4231-4233)tCa>tTa	p.S1411L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1411						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GATGAACATTCAGTTCTTGCA	0.408000														27			9		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932943	32932943	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:32932943C>T	uc003cff.3	+	3	2310	c.2247C>T	c.(2245-2247)tcC>tcT	p.S749S		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	749					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACTTTGACTCCCCACGGGGTG	0.577000														54			8		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16955966	16955967	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:16955966_16955967AG>TA	uc001ioo.3	-	47	7428_7429	c.7376_7377CT>TA	c.(7375-7377)tct>tTA	p.S2459L		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2459	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGTTCCAATAGAGCCCTGAAG	0.475000														75			31		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29407834	29407834	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29407834C>T	uc011dlp.2	+	0	119	c.42C>T	c.(40-42)ctC>ctT	p.L14L	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCTTCTTCTCGGCTTCTCCC	0.498000														75			8		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	336800	336800	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:336800G>A	uc001qic.2	-	7	956	c.866C>T	c.(865-867)tCc>tTc	p.S289F	SLC6A13_uc009zdj.2_Missense_Mutation_p.S289F|SLC6A13_uc010sdl.2_Missense_Mutation_p.S197F|SLC6A13_uc010sdm.1_Missense_Mutation_p.S170F	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	289					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GATGGCGAAGGAGAAGAATAT	0.567000														36			17		0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96691678	96691678	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:96691678C>T	uc002svf.3	-	12	1461	c.1238_splice	c.e12+1	p.C413_splice	GPAT2_uc002sve.3_Splice_Site_p.C215_splice|GPAT2_uc002svd.3_Splice_Site_p.C226_splice|GPAT2_uc002svg.3_Splice_Site_p.C286_splice|GPAT2_uc010yuh.2_Splice_Site_p.C342_splice|GPAT2_uc002svh.3_Splice_Site_p.C413_splice	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA.	413					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GTGCCCCTACCATTGGCCCAG	0.607000														48			20		0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143513864	143513864	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:143513864G>A	uc003evn.3	-	3	721	c.512C>T	c.(511-513)gCc>gTc	p.A171V	SLC9A9_uc011bnk.2_Missense_Mutation_p.A45V	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	171					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCAGGAGATGGCAGTTCCCAA	0.413000														77			35		0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373732	86373732	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:86373732C>T	uc010sum.2	-	5	1003	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	MGAT4C_uc001tal.4_Missense_Mutation_p.G258S|MGAT4C_uc001taj.4_Missense_Mutation_p.G258S|MGAT4C_uc001tak.4_Missense_Mutation_p.G258S|MGAT4C_uc001tai.4_Missense_Mutation_p.G258S|MGAT4C_uc001tah.4_Missense_Mutation_p.G258S	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	258					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCAATGTAGCCAAGCTTAGAG	0.363000														79			17		0	0	1	0	0
BC067347	0	broad.mit.edu	37	17	20744410	20744410	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:20744410C>T	uc010crb.2	+	0		c.70C>T								Homo sapiens cDNA clone IMAGE:6269068, partial cds.																		GCTGCCCGCCCTGCCCCGGCC	0.751000														13			10		0	0	1	0	0
INPP5A	3632	broad.mit.edu	37	10	134579348	134579348	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:134579348C>T	uc001llp.3	+	11	1223	c.975C>T	c.(973-975)ccC>ccT	p.P325P	INPP5A_uc001llo.1_Silent_p.P325P|INPP5A_uc001llq.3_Silent_p.P220P	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	325					cell communication	membrane	PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity	p.P325L(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CGTTCCCTCCCAGGTATGGAA	0.498000														55			19		0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154681001	154681001	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:154681001G>A	uc003wlk.3	+	23	2453	c.2324G>A	c.(2323-2325)cGa>cAa	p.R775Q	DPP6_uc003wli.3_Missense_Mutation_p.R711Q|DPP6_uc003wlm.3_Missense_Mutation_p.R713Q|DPP6_uc011kvq.2_Missense_Mutation_p.R668Q	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	775					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.S774T(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GTAGCCCATCGAGTCTCCGCG	0.542000														31			9		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34640283	34640283	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34640283G>A	uc010ucc.2	+	2	596	c.214G>A	c.(214-216)Gag>Aag	p.E72K	C15orf55_uc010ucd.2_Missense_Mutation_p.E62K|C15orf55_uc001zif.3_Missense_Mutation_p.E44K	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	44	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CCCACCCAGGGAGCCACCTCC	0.592000			T	"""BRD3, BRD4"""	lethal midline carcinoma									126			50		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71025230	71025230	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71025230C>T	uc002ezr.3	-	24	4006	c.3855G>A	c.(3853-3855)gtG>gtA	p.V1285V		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1285										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)				CATCTGAGATCACACTGGAAG	0.463000														87			28		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227983445	227983445	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:227983445T>C	uc021vxr.1	-	5	506	c.405A>G	c.(403-405)aaA>aaG	p.K135K	COL4A4_uc021vxs.1_Silent_p.K135K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	135	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCATACCAGGTTTGCCTCTGG	0.493000														67			29		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78383099	78383099	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:78383099C>T	uc001ozl.4	-	30	6235	c.5772G>A	c.(5770-5772)tgG>tgA	p.W1924*	ODZ4_uc001ozk.4_Nonsense_Mutation_p.W149*	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1924					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						ATGTGTAGCTCCATGTCTTCC	0.547000														23			8		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178410187	178410187	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178410187G>A	uc003mjr.3	-	8	2339	c.2160C>T	c.(2158-2160)ccC>ccT	p.P720P	GRM6_uc003mjq.3_Silent_p.P123P	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	720					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGCTGTGTGGGGGCCGGGCCC	0.602000														41			18		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119699940	119699940	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:119699940C>T	uc002tln.1	+	0	196	c.64C>T	c.(64-66)Cac>Tac	p.H22Y	MARCO_uc010yyf.1_5'UTR	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	22					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						AGCTGCTTTTCACCAAATTGC	0.423000														91			22		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281220	152281220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152281220C>T	uc001ezu.1	-	2	6178	c.6142G>A	c.(6142-6144)Gag>Aag	p.E2048K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2048	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATGTCCCTCACTGTCACTG	0.562000									Ichthyosis					548			232		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	333603	333603	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:333603G>A	uc001qic.2	-	9	1227	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	SLC6A13_uc009zdj.2_Silent_p.F369F|SLC6A13_uc010sdl.2_Silent_p.F287F	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	379					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CCATGAAGAAGAAACAGCAGG	0.597000														98			15		0	0	1	0	0
C11orf52	91894	broad.mit.edu	37	11	111796863	111796863	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:111796863G>A	uc001pmh.3	+	4	795	c.312G>A	c.(310-312)gcG>gcA	p.A104A		NM_080659	NP_542390	Q96A22	CK052_HUMAN	Homo sapiens chromosome 11 open reading frame 52 (C11orf52), mRNA.	104										lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		CAGAGTATGCGACCCTTCGCT	0.547000														48			12		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38593037	38593037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38593037G>A	uc021wvo.1	-	26	4878	c.4826C>T	c.(4825-4827)tCg>tTg	p.S1609L	SCN5A_uc021wvk.1_Missense_Mutation_p.S1576L|SCN5A_uc021wvl.1_Missense_Mutation_p.S1555L|SCN5A_uc021wvm.1_Missense_Mutation_p.S1591L|SCN5A_uc021wvn.1_Missense_Mutation_p.S1608L|SCN5A_uc021wvp.1_Missense_Mutation_p.S1609L|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.S1421L|SCN5A_uc021wvi.1_Missense_Mutation_p.S1475L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1609			S -> W (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GATGATGTCCGAGAGCACAGT	0.617000														76			24		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767944	57767944	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:57767944G>A	uc002yan.3	+	0	1870	c.1870G>A	c.(1870-1872)Ggg>Agg	p.G624R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	624						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGGTGTACGGGGATGAGAC	0.607000														79			33		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75108723	75108723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75108723G>A	uc001dgg.3	-	3	522	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	101										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						TAAACCTCTGGATTCGCTCCT	0.338000														73			28		0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37365703	37365703	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:37365703G>A	uc010ynh.2	-	6	1099	c.542C>T	c.(541-543)tCt>tTt	p.S181F	EIF2AK2_uc010fab.2_Missense_Mutation_p.S181F|EIF2AK2_uc010yng.2_Missense_Mutation_p.S181F|EIF2AK2_uc010fac.3_Missense_Mutation_p.S181F|EIF2AK2_uc010fad.2_Missense_Mutation_p.S181F	NM_002759	NP_002750	P19525	E2AK2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.	181					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				AGTAGCAAAAGAACCAGAGGA	0.368000														74			22		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44069433	44069433	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44069433C>T	uc001cjr.3	+	15	2950	c.2610C>T	c.(2608-2610)ttC>ttT	p.F870F	PTPRF_uc001cjs.3_Silent_p.F861F|PTPRF_uc001cju.3_Intron|PTPRF_uc009vwt.3_Silent_p.F430F|PTPRF_uc001cjv.3_Silent_p.F330F|PTPRF_uc001cjw.3_Silent_p.F96F	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	870	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCATAGATTTCGGCAAGGATG	0.637000														73			21		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48506595	48506595	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48506595G>A	uc003toq.2	+	43	12882	c.12858G>A	c.(12856-12858)cgG>cgA	p.R4286R	ABCA13_uc010kys.1_Silent_p.R1361R|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Intron	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4286					transport	integral to membrane	ATP binding|ATPase activity	p.H4285R(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCTTCTGCGGAAGTTTAGAG	0.478000														90			28		0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2024083	2024083	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2024083C>T	uc002cnu.1	+	1	170	c.68C>T	c.(67-69)cCt>cTt	p.P23L	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_5'UTR|TBL3_uc010bsc.1_5'Flank|TBL3_uc010uvt.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	23					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						AAAATTGAGCCTTTCTACAAG	0.652000														34			8		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291424	33291424	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:33291424G>A	uc001wrq.3	+	12	4575	c.4405G>A	c.(4405-4407)Gat>Aat	p.D1469N		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1469					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TACATTTTATGATTACTCATA	0.373000														30			19		0	0	1	0	0
PHYHIPL	84457	broad.mit.edu	37	10	60994167	60994167	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:60994167G>A	uc001jkk.4	+	1	476	c.210G>A	c.(208-210)tgG>tgA	p.W70*	PHYHIPL_uc001jkl.4_Nonsense_Mutation_p.W24*|PHYHIPL_uc001jkm.4_Nonsense_Mutation_p.W44*	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein-like (PHYHIPL), transcript variant 1, mRNA.	70	Fibronectin type-III.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						AGATTTCATGGGAAATGGATT	0.338000														86			17		0	0	1	0	0
VIP	7432	broad.mit.edu	37	6	153078241	153078241	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:153078241G>A	uc003qpe.3	+	5	650	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	VIP_uc003qpf.3_Missense_Mutation_p.E159K|VIP_uc010kjd.3_Missense_Mutation_p.E158K	NM_003381	NP_003372	P01282	VIP_HUMAN	Homo sapiens vasoactive intestinal peptide (VIP), transcript variant 1, mRNA.	160					G-protein coupled receptor protein signaling pathway|body fluid secretion|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CAGTGAGGGAGAATCTCCCGA	0.403000														18			12		0	0	1	0	0
MYBPHL	343263	broad.mit.edu	37	1	109840226	109840226	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:109840226G>A	uc001dxk.1	-	2	298	c.248C>T	c.(247-249)cCt>cTt	p.P83L	MYBPHL_uc010ovh.1_Missense_Mutation_p.P83L|MYBPHL_uc001dxl.3_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	Homo sapiens myosin binding protein H-like (MYBPHL), mRNA.	83	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GATGGCTTGAGGTTTGGGCTT	0.587000														36			16		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849774	73849774	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:73849774G>A	uc003xzb.3	+	2	2772	c.2184G>A	c.(2182-2184)caG>caA	p.Q728Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	728					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)			GTGCACCACAGACCCCGCCCA	0.532000														110			56		0	0	1	0	0
TRDN	10345	broad.mit.edu	37	6	123699017	123699017	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:123699017C>T	uc003pzj.2	-	16	1531	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K	TRDN_uc003pzk.2_Missense_Mutation_p.E406K|TRDN_uc010kem.2_5'UTR	NM_006073	NP_006064	Q13061	TRDN_HUMAN	Homo sapiens triadin (TRDN), transcript variant 1, mRNA.	405					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TTACCTGGTTCCACATGTTTT	0.249000														5			8		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28598107	28598107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28598107C>T	uc002kwj.4	-	8	1348	c.1193G>A	c.(1192-1194)gGa>gAa	p.G398E	DSC3_uc002kwi.4_Missense_Mutation_p.G398E	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	398	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATTTTCATTTCCCTTTAAAAT	0.318000														96			29		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817226	69817226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69817226C>T	uc003hef.2	-	0	284	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	85						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCATTTTCTTCTGTTCTGTCC	0.368000														67			22		0	0	1	0	0
SMCR7	125170	broad.mit.edu	37	17	18167217	18167217	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:18167217C>T	uc010vxq.2	+	3	563	c.537C>T	c.(535-537)ttC>ttT	p.F179F	SMCR7_uc002gsu.3_Missense_Mutation_p.P144S|SMCR7_uc002gst.3_Silent_p.F168F	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	168						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					GGAGCAAGTTCCCGGAACTGC	0.672000														12			13		0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105353296	105353296	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105353296C>T	uc001yps.3	+	10	2816	c.2510C>T	c.(2509-2511)tCc>tTc	p.S837F	KIAA0284_uc010axb.3_Missense_Mutation_p.S837F|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	907						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GACTTCCACTCCCAGGACACC	0.682000														58			20		0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990476	990476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:990476G>A	uc003zgw.1	+	1	928	c.890G>A	c.(889-891)cGa>cAa	p.R297Q		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	297					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GGAGCAGAGCGAACTTCCGCA	0.582000														56			13		0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47117421	47117421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:47117421G>A	uc002eer.2	-	8	1702	c.1289C>T	c.(1288-1290)aCc>aTc	p.T430I	NETO2_uc002eeq.2_Missense_Mutation_p.T165I|NETO2_uc010vgf.2_Missense_Mutation_p.T423I	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.	430						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GCGGGAGGCGGTGGAGGAGCG	0.527000										HNSCC(25;0.065)				123			39		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123780052	123780052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:123780052G>A	uc004bkv.3	-	12	1615	c.1585C>T	c.(1585-1587)Cca>Tca	p.P529S	C5_uc010mvm.1_Missense_Mutation_p.P529S|C5_uc010mvn.1_Missense_Mutation_p.P529S	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	529					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TGTGTTACTGGAATGTTTATA	0.388000														60			20		0	0	1	0	0
GSTA3	2940	broad.mit.edu	37	6	52764831	52764831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:52764831C>T	uc003pbb.3	-	4	394	c.315G>A	c.(313-315)atG>atA	p.M105I	GSTA3_uc010jzq.3_Missense_Mutation_p.M49I	NM_000847	NP_000838	Q16772	GSTA3_HUMAN	Homo sapiens glutathione S-transferase alpha 3 (GSTA3), mRNA.	105	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	GAAGAAGGATCATTTCATTCA	0.383000														188			61		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8755350	8755350	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:8755350G>A	uc002wnb.3	+	26	3098	c.3095G>A	c.(3094-3096)cGa>cAa	p.R1032Q	PLCB1_uc010zrb.1_Missense_Mutation_p.R931Q|PLCB1_uc002wna.3_Missense_Mutation_p.R1032Q|PLCB1_uc002wnc.1_Missense_Mutation_p.R931Q|PLCB1_uc002wnd.1_Missense_Mutation_p.R609Q	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	1032					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						TACCAGAAGCGAGAACATATT	0.373000														74			25		0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170236609	170236609	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:170236609C>T	uc003mau.3	+	8	1068	c.870C>T	c.(868-870)atC>atT	p.I290I	GABRP_uc011dev.2_Intron	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	290						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACTGATGATCGGGTCCCGCA	0.517000											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		178			15		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754616	49754616	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:49754616G>A	uc003ozu.3	-	0	438	c.285C>T	c.(283-285)ttC>ttT	p.F95F		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	95					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGTCCTTCAGGAACAGAACAT	0.527000														106			42		0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52660491	52660491	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:52660491C>T	uc001vge.3	-	15	1541	c.1401G>A	c.(1399-1401)tgG>tgA	p.W467*		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	467							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTAACTGCTTCCAATATTCCT	0.363000														96			23		0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43013755	43013755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:43013755C>T	uc003xpx.4	+	2	320	c.272C>T	c.(271-273)cCa>cTa	p.P91L		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	119					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CCTCAGAGTCCAAAAGCAGGG	0.488000														85			33		0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22972217	22972217	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:22972217G>A	uc003xcy.3	+	2	522	c.214G>A	c.(214-216)Ggt>Agt	p.G72S	TNFRSF10C_uc011kzr.2_Non-coding_Transcript	NM_003841	NP_003832	O14798	TR10C_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA.	72					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GTGCACAGAGGGTGTGGATTA	0.478000														89			44		0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41797425	41797425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:41797425C>T	uc001zoa.3	-	14	2084	c.1906G>A	c.(1906-1908)Gaa>Aaa	p.E636K	LTK_uc001zob.3_Missense_Mutation_p.E575K|LTK_uc010ucx.1_Missense_Mutation_p.E506K|LTK_uc010bcg.2_Missense_Mutation_p.E334K	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	636	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AAGTGATTTTCCTCCAGGTAG	0.602000										TSP Lung(18;0.14)				20			33		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553778	19553778	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:19553778G>A	uc001vuz.1	+	0	414	c.362G>A	c.(361-363)gGa>gAa	p.G121E	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	121								p.W120L(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGCCCTTGGGGAGACTACGAC	0.597000														359			60		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53907760	53907760	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:53907760C>T	uc002acj.2	-	14	2685	c.2643G>A	c.(2641-2643)caG>caA	p.Q881Q	WDR72_uc010bfi.1_Silent_p.Q881Q	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	881										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GAATTCCAACCTGATTTGGAA	0.318000														67			22		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070509	9070509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9070509G>A	uc002mkp.3	-	2	17141	c.16937C>T	c.(16936-16938)tCc>tTc	p.S5646F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5648	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						TGATGTGGAGGAAACAGGAGA	0.517000														21			12		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931190	157931190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:157931190G>A	uc003wno.3	-	6	1049	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F	PTPRN2_uc003wnp.3_Missense_Mutation_p.L293F|PTPRN2_uc003wnq.3_Missense_Mutation_p.L310F|PTPRN2_uc003wnr.3_Missense_Mutation_p.L272F|PTPRN2_uc011kwa.2_Missense_Mutation_p.L333F	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	310						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCCTTCAGGAGGGTATGAATC	0.617000														61			23		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149857	153149857	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:153149857C>T	uc011dcy.2	+	12	2209	c.2182C>T	c.(2182-2184)Ctg>Ttg	p.L728L	GRIA1_uc003lva.4_Silent_p.L718L|GRIA1_uc003luy.4_Silent_p.L718L|GRIA1_uc003luz.4_Silent_p.L623L|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.L638L|GRIA1_uc011dcx.2_Silent_p.L649L|GRIA1_uc011dcz.2_Silent_p.L728L	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	718					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGCCTACCTCCTGGAGTCCAC	0.498000														46			16		0	0	1	0	0
NRG4	145957	broad.mit.edu	37	15	76254290	76254290	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:76254290G>A	uc002bbo.3	-	3	312	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	NRG4_uc010bkm.1_Non-coding_Transcript|NRG4_uc002bbp.2_Non-coding_Transcript	NM_138573	NP_612640	Q8WWG1	NRG4_HUMAN	Homo sapiens neuregulin 4 (NRG4), mRNA.	44	EGF-like.					extracellular region|integral to membrane|plasma membrane	growth factor activity			large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						TCTTCACAACGAGCTCCTGTA	0.388000														85			73		0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36940319	36940319	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36940319C>T	uc002xib.2	+	4	654	c.592C>T	c.(592-594)Cga>Tga	p.R198*		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	198					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	p.R198Q(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GTCTGCGCTTCGAAACAAGAT	0.507000														83			10		0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81239646	81239646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81239646C>T	uc001szj.1	-	3	539	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	116	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CCAAGGCCTTCATCAGTCTTT	0.458000														47			28		0	0	1	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7995115	7995115	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:7995115C>T	uc001aot.3	-	6	763	c.502G>A	c.(502-504)Gga>Aga	p.G168R		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	168					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.P167L(1)|p.P167P(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGATGCTCCCGGAGAGAGG	0.542000														65			13		0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20691984	20691984	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20691984G>A	uc010tlc.2	+	0	116	c.116G>A	c.(115-117)aGg>aAg	p.R39K		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CATGGTCAAAGGGAGATGCAG	0.463000														155			52		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561313	9561313	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9561313C>T	uc002wnl.2	-	4	1014	c.469G>A	c.(469-471)Gat>Aat	p.D157N	PAK7_uc002wnk.2_Missense_Mutation_p.D157N|PAK7_uc002wnj.2_Missense_Mutation_p.D157N|PAK7_uc010gby.1_Missense_Mutation_p.D157N	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	157	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TAATACGGATCCAGATCATCT	0.483000														166			60		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532053	50532053	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50532053C>T	uc021pqb.1	+	0	1463	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	C10orf71_uc021pqa.1_Missense_Mutation_p.S487F|C10orf71_uc021pqc.1_Missense_Mutation_p.S488F	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	488										endometrium(1)	1						GAATGTCAGTCTCGAGACAGC	0.547000														25			4		0	0	1	0	0
DOLPP1	57171	broad.mit.edu	37	9	131847378	131847378	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131847378C>T	uc004bxc.3	+	2	282	c.254C>T	c.(253-255)cCc>cTc	p.P85L	DOLPP1_uc004bxd.3_Missense_Mutation_p.P85L|DOLPP1_uc004bxe.3_Intron	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	Homo sapiens dolichyl pyrophosphate phosphatase 1 (DOLPP1), transcript variant 1, mRNA.	85					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						GAGCCACGGCCCTGTGGAGGT	0.632000														48			8		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202538	56202538	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:56202538C>T	uc002lhj.4	-	4	5095	c.4881G>A	c.(4879-4881)atG>atA	p.M1627I	ALPK2_uc002lhk.1_Missense_Mutation_p.M958I	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1627							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TAGGTTCCTCCATTTTGTGGC	0.458000														86			24		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746970	90746970	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90746970G>A	uc011lti.2	-	3	1011	c.982C>T	c.(982-984)Cat>Tat	p.H328Y		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	328																	GGCTCCAGATGGGACAGGGGC	0.552000														276			25		0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100244607	100244607	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100244607G>A	uc003uvy.3	-	9	1030	c.923C>T	c.(922-924)cCc>cTc	p.P308L	ACTL6B_uc003uvz.3_Non-coding_Transcript	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	308					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GACGTTCGAGGGATCAAACAG	0.622000														55			7		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573709	38573709	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38573709C>T	uc002ohk.3	+	2	2013	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	502					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTGGGCGCCCGCTACTACCA	0.627000														38			19		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175063316	175063316	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175063316G>A	uc001gkl.1	+	6	1628	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E	TNN_uc010pmx.1_Silent_p.E505E	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	505	Fibronectin type-III 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCCAGGAGAGGCATACAAGG	0.542000														44			15		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22337337	22337337	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22337337C>T	uc021rpg.1	+	1	191	c.128C>T	c.(127-129)aCt>aTt	p.T43I	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 85.																		ATCAAGTGTACTTATTCAGAC	0.438000														103			53		0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964551	119964551	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:119964551G>A	uc001ehs.3	+	2	1200	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	HSD3B2_uc021ost.1_Missense_Mutation_p.E143K|HSD3B2_uc001eht.3_Missense_Mutation_p.E143K|HSD3B2_uc001ehu.3_Intron	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	143					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CGGCCACGAAGAAGAGCCTCT	0.527000														146			32		0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213706	3213706	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3213706C>T	uc002fvi.2	+	0	168	c.102C>T	c.(100-102)ttC>ttT	p.F34F						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		TTGTCATCTTCCTTCTTGCTT	0.527000														39			24		0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88485422	88485422	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:88485422C>T	uc002ssy.4	+	7	2926	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	THNSL2_uc002ssw.4_3'UTR|THNSL2_uc002sta.4_Silent_p.S203S|THNSL2_uc010fhe.3_Silent_p.S203S|THNSL2_uc021vkr.1_Missense_Mutation_p.P412L	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	412					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CACAGCACTCCCCGGTGCTGC	0.617000														9			4		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969464	47969464	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47969464C>T	uc010ele.3	-	0	213	c.197G>A	c.(196-198)gGt>gAt	p.G66D	SLC8A2_uc002pgx.3_Missense_Mutation_p.G66D|SLC8A2_uc010xyq.2_Intron|SLC8A2_uc010xyr.2_Intron			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	66					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CGCCTTGTCACCCAGCGACGG	0.657000														48			14		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328286	152328286	+	Missense_Mutation	SNP	C	T	T	rs145112487		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152328286C>T	uc001ezw.4	-	2	2049	c.1976G>A	c.(1975-1977)gGa>gAa	p.G659E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	659	Ser-rich.						calcium ion binding|structural molecule activity	p.G659E(2)		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)			TGAGCCTGATCCATATTGGCC	0.493000														377			142		0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127239494	127239494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:127239494C>T	uc003vmd.2	+	4	1399	c.1180C>T	c.(1180-1182)Cgt>Tgt	p.R394C	FSCN3_uc011koh.1_Missense_Mutation_p.R260C|FSCN3_uc010llc.2_Missense_Mutation_p.R394C	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	394						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ATTGCGAGGTCGTTATGGCTA	0.507000														72			43		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451045	138451045	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:138451045G>A	uc003ihe.4	-	0	2585	c.2198C>T	c.(2197-2199)tCc>tTc	p.S733F	PCDH18_uc003ihf.4_Missense_Mutation_p.S726F|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.S513F|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	733					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCAGTTATAGGATCTAGTGTC	0.438000														59			18		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043403	74043403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74043403G>A	uc002sjr.1	+	2	2174	c.2053G>A	c.(2053-2055)Gag>Aag	p.E685K		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	685										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TAAAGGCCCGGAGAAAATTCA	0.512000														70			7		0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52756698	52756698	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52756698G>A	uc001sag.3	-	5	1137	c.1017C>T	c.(1015-1017)atC>atT	p.I339I		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	339	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCTCGTTGATCTCCTCCT	0.582000														61			27		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68115441	68115441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:68115441C>T	uc001ont.3	+	1	293	c.218C>T	c.(217-219)tCc>tTc	p.S73F	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	73	Beta-propeller 1.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCCAGTTTTCCAAGGGAGCC	0.657000														101			24		0	0	1	0	0
HCAR1	27198	broad.mit.edu	37	12	123214755	123214755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:123214755C>T	uc001ucz.3	-	0	375	c.132G>A	c.(130-132)atG>atA	p.M44I	HCAR1_uc001ucw.1_Non-coding_Transcript	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.	44					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						TCCAGGTCTTCATGTGGAAGC	0.547000														27			9		0	0	1	0	0
OR8G1	26494	broad.mit.edu	37	11	124120608	124120608	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124120608C>T	uc001pzx.3	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		TGTACTATTTCCTCAGCAGTC	0.483000														97			56		0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57910226	57910226	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57910226C>T	uc002qon.3	+	3	857	c.607C>T	c.(607-609)Cag>Tag	p.Q203*	ZNF548_uc002qom.3_Nonsense_Mutation_p.Q191*|ZNF17_uc021vck.1_Intron	NM_001172773	NP_001166244	Q8NEK5	ZN548_HUMAN	Homo sapiens zinc finger protein 548 (ZNF548), transcript variant 1, mRNA.	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAAGCCTTTCAGACTGGACA	0.498000														74			23		0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186292914	186292914	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:186292914G>A	uc001grv.3	-	42	6498	c.6201C>T	c.(6199-6201)gcC>gcT	p.A2067A	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	2067					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)		GTGCTCGAGGGGCCTGTCTTT	0.517000			T	NTRK1	papillary thyroid									131			63		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10265056	10265056	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10265056G>A	uc002mng.3	-	20	2064	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F	DNMT1_uc010xlc.2_Silent_p.F644F|DNMT1_uc002mnh.3_Silent_p.F523F|DNMT1_uc010xld.2_Silent_p.F628F	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	628					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AGAAAGTATCGAAGATCTGGT	0.562000														156			36		0	0	1	0	0
PRCC	5546	broad.mit.edu	37	1	156761529	156761529	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156761529C>T	uc001fqa.3	+	3	1414	c.1124C>T	c.(1123-1125)gCc>gTc	p.A375V		NM_005973	NP_005964	Q92733	PRCC_HUMAN	Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA.	375					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGGACCCGGCCCTGGTCCCC	0.537000			T	TFE3	papillary renal									84			19		0	0	1	0	0
IPPK	64768	broad.mit.edu	37	9	95410411	95410411	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:95410411G>A	uc004asl.1	-	5	711	c.434C>T	c.(433-435)cCt>cTt	p.P145L		NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA.	145					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						ACTCGAGAAAGGAATAAACCC	0.413000														31			4		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848367	73848367	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:73848367G>A	uc003xzb.3	+	2	1365	c.777G>A	c.(775-777)tgG>tgA	p.W259*		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	259					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)			CAAATAAATGGAAGTTCTTCA	0.453000														81			26		0	0	1	0	0
KCNS1	3787	broad.mit.edu	37	20	43723679	43723679	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43723679C>T	uc002xnc.3	-	4	1810	c.1413G>A	c.(1411-1413)gaG>gaA	p.E471E	KCNS1_uc002xnd.3_Silent_p.E471E	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 (KCNS1), mRNA.	471						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GCACGGCTGCCTCCAGAGCCT	0.577000														124			64		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46766894	46766894	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46766894C>T	uc011dwh.1	+	3	330	c.322C>T	c.(322-324)Cct>Tct	p.P108S	MEP1A_uc010jzh.1_Missense_Mutation_p.P80S|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_5'UTR	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	80	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GTTCCCCATTCCTTACATCTT	0.438000														104			29		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55145563	55145563	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55145563G>A	uc010ooe.1	+	13	2551	c.2227_splice	c.e13-1	p.I743_splice	HEATR8_uc001cxq.3_Splice_Site|HEATR8_uc010ooc.1_Splice_Site_p.I311_splice|HEATR8_uc010ood.1_Splice_Site_p.I261_splice|HEATR8_uc001cxs.2_Splice_Site|HEATR8_uc010oof.1_Intron|HEATR8_uc001cxr.1_Intron|HEATR8_uc010oog.1_Splice_Site_p.I743_splice|HEATR8_uc010ooh.1_Splice_Site|HEATR8_uc009vzq.1_Splice_Site|HEATR8_uc001cxt.1_Splice_Site|HEATR8_uc009vzr.1_5'Flank	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	743						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						CTGTGCCCCAGATCCCAGAAA	0.657000														158			60		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111748289	111748289	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:111748289A>T	uc001tsa.2	+	14	1857	c.1703A>T	c.(1702-1704)aAa>aTa	p.K568I		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	568						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L567L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CAGCTGCTGAAACACAACATC	0.687000														80			35		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121947613	121947613	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:121947613G>A	uc001uat.3	-	10	1508	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	KDM2B_uc001uar.3_Silent_p.F59F|KDM2B_uc001uas.3_Silent_p.F437F|KDM2B_uc021rfd.1_Silent_p.F437F|KDM2B_uc001uau.3_Silent_p.F351F|KDM2B_uc021rfe.1_Silent_p.F468F|KDM2B_uc001uav.4_Silent_p.F378F	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	468					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCCTTTTGAGGAATCGCAGGG	0.612000														71			13		0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810959	65810959	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65810959G>A	uc001ogv.3	-	1	475	c.315C>T	c.(313-315)ttC>ttT	p.F105F	GAL3ST3_uc001ogw.3_Silent_p.F105F	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	105					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGGGGTAGCAGAACTGGTGCT	0.687000														24			12		0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54785280	54785280	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:54785280C>T	uc004dtj.2	-	7	1257	c.1227G>A	c.(1225-1227)gtG>gtA	p.V409V		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	409	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TGGAGAGGATCACACTGGGGG	0.627000														14			15		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155458470	155458470	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:155458470G>A	uc003qqb.3	+	6	2627	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	TIAM2_uc003qqe.3_Missense_Mutation_p.D452N|TIAM2_uc010kjj.3_5'UTR	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	452					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GATTGGCAGCGATCCCCTCCG	0.502000														50			53		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751993	140751993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140751993C>T	uc003ljw.2	+	0	2032	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.R678C|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	680					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)			CCTTAGCGACCGCCCCACTCC	0.557000														97			24		0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38045833	38045833	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38045833C>T	uc003chj.3	+	15	2179	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	VILL_uc003chl.3_Silent_p.F631F	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	631					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AAGTGGGGTTCTTCAGCCAGG	0.622000											OREG0015475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			18		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325055	150325055	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150325055G>A	uc022apv.1	-	2	1321	c.841C>T	c.(841-843)Caa>Taa	p.Q281*	GIMAP6_uc003whn.3_Nonsense_Mutation_p.Q211*|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	211							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTCGCAGTTGGGCCTCCTGC	0.537000														182			83		0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31386389	31386389	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31386389C>T	uc002wyc.3	+	14	1935	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Silent_p.R518R|DNMT3B_uc002wye.3_Silent_p.R518R|DNMT3B_uc010ztz.2_Silent_p.R476R|DNMT3B_uc010zua.2_Silent_p.R442R|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.R530R|DNMT3B_uc002wyg.3_Silent_p.R237R|DNMT3B_uc010geg.3_5'Flank|DNMT3B_uc010geh.3_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	538	ADD.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTGCGGCGCCGGAAGGACT	0.637000														43			26		0	0	1	0	0
FAM118A	55007	broad.mit.edu	37	22	45719239	45719239	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:45719239C>T	uc003bfz.4	+	3	847	c.231C>T	c.(229-231)ttC>ttT	p.F77F	FAM118A_uc003bga.4_Silent_p.F77F	NM_001104595	NP_060381	Q9NWS6	F118A_HUMAN	Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA.	77						integral to membrane		p.E76*(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCGCCGAGTTCCGGAGGAAAG	0.592000														89			11		0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5626711	5626711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5626711G>A	uc001mbf.3	+	3	1011	c.748G>A	c.(748-750)Gat>Aat	p.D250N	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.D196N|TRIM6-TRIM34_uc010qzj.2_Missense_Mutation_p.D47N|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.D222N|TRIM6-TRIM34_uc001mbe.3_Missense_Mutation_p.D47N|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.D250N|TRIM6-TRIM34_uc010qzk.2_Missense_Mutation_p.D47N|TRIM6-TRIM34_uc010qzl.2_Missense_Mutation_p.D47N|TRIM6-TRIM34_uc009yep.1_Missense_Mutation_p.D47N	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	250						intracellular	zinc ion binding	p.D250G(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GGCTGAGAATGATCTGGTCCA	0.522000											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		56			20		0	0	1	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20871407	20871407	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20871407G>A	uc002dhz.3	-	2	857	c.716C>T	c.(715-717)tCc>tTc	p.S239F	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) (DCUN1D3), mRNA.	239	DCUN1.				negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of apoptosis|response to UV-C|response to gamma radiation	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		AGTGTCCCGGGAGATGCCCTT	0.507000														101			22		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169108797	169108797	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:169108797G>A	uc003maf.3	+	6	600	c.520G>A	c.(520-522)Gac>Aac	p.D174N	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	174					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			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)			AAATATCTTGGACCCTGATAA	0.403000														144			45		0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	107823108	107823108	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:107823108C>T	uc001vql.3	-	2	1630	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	372						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCTGGTTCATCATTGGTTAGA	0.443000														43			16		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52174539	52174539	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52174539G>A	uc001ryw.3	+	20	4104	c.3926G>A	c.(3925-3927)cGa>cAa	p.R1309Q	SCN8A_uc010snl.2_Intron|SCN8A_uc001rza.1_Intron	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1309					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GCCTTATCACGATTTGAAGGG	0.458000														26			10		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267481	71267481	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:71267481G>A	uc001xmm.3	-	1	723	c.723C>T	c.(721-723)atC>atT	p.I241I	MAP3K9_uc001xml.3_Silent_p.I241I	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	241	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AATTCACCAGGATGTCTGGGG	0.502000														89			13		0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16855835	16855835	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:16855835G>A	uc002gqs.1	-	1	137	c.124C>T	c.(124-126)Cct>Tct	p.P42S	TNFRSF13B_uc010vwt.1_Intron|TNFRSF13B_uc002gqt.1_Intron	NM_012452	NP_036584	O14836	TR13B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA.	42					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CCCAGCAGAGGATCCCAGTAC	0.617000									IgA Deficiency, Selective					25			19		0	0	1	0	0
IL28RA	163702	broad.mit.edu	37	1	24483953	24483953	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24483953C>T	uc001bis.3	-	6	1257	c.1230G>A	c.(1228-1230)aaG>aaA	p.K410K	IL28RA_uc001bir.3_Silent_p.K381K|IL28RA_uc001bit.3_3'UTR|IL28RA_uc001biu.3_Silent_p.K326K	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.	410					cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4)	16		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		GGCCTGGCCCCTTCTCAGCCA	0.597000														80			9		0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56639294	56639294	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56639294G>A	uc001skm.4	-	20	2361	c.2271C>T	c.(2269-2271)ccC>ccT	p.P757P		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	757							protein binding	p.T756M(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CCAGGTGAATGGGCGTGCGGC	0.622000														43			22		0	0	1	0	0
VMO1	284013	broad.mit.edu	37	17	4688690	4688690	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:4688690C>T	uc002fyx.3	-	2	658	c.576G>A	c.(574-576)ctG>ctA	p.L192L	VMO1_uc010vsh.2_3'UTR|VMO1_uc010vsi.2_3'UTR|VMO1_uc002fyy.3_3'UTR	NM_182566	NP_872372	Q7Z5L0	VMO1_HUMAN	Homo sapiens vitelline membrane outer layer 1 homolog (chicken) (VMO1), transcript variant 1, mRNA.	192					vitelline membrane formation	extracellular region				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						GCGCGTCGTTCAGCGCAGTGT	0.642000														21			19		0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100155313	100155313	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:100155313C>T	uc001dsg.3	+	6	1940	c.1497C>T	c.(1495-1497)ccC>ccT	p.P499P		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	499					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		ATAAATCCCCCCACAAAAATT	0.463000														59			23		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187692815	187692815	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:187692815C>T	uc002upu.1	-	8	1838	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	600					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CGTGTAATTTCCCCCATACAG	0.343000														46			22		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602980	138602980	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:138602980C>T	uc011kql.2	-	1	1441	c.1392G>A	c.(1390-1392)atG>atA	p.M464I	KIAA1549_uc011kqj.2_Missense_Mutation_p.M464I	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	464						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CGACGCTACTCATTAGAGAGA	0.493000			O	BRAF	pilocytic astrocytoma									51			18		0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33143334	33143334	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:33143334C>T	uc001iwm.1	+	19	2005	c.1769C>T	c.(1768-1770)tCg>tTg	p.S590L	C10orf68_uc001iwl.1_Missense_Mutation_p.S545L|C10orf68_uc001iwn.4_Missense_Mutation_p.S586L|C10orf68_uc010qei.1_Missense_Mutation_p.S562L|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	586										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTAGGGCATTCGAAAGTTGTT	0.279000														38			13		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69683801	69683801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69683801G>A	uc003hee.3	+	1	798	c.773G>A	c.(772-774)cGa>cAa	p.R258Q	UGT2B10_uc011cam.2_Missense_Mutation_p.R174Q	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	258					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGGCTTATGCGAAACTCCTGG	0.383000														128			71		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6702545	6702545	+	Missense_Mutation	SNP	C	T	T	rs143642234		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6702545C>T	uc002mfm.3	-	17	2353	c.2291G>A	c.(2290-2292)cGa>cAa	p.R764Q		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	764					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.R764Q(2)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GAACTCACTTCGGGAAACGAT	0.537000														104			37		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48764779	48764779	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:48764779G>A	uc001zwx.2	-	34	4700	c.4305C>T	c.(4303-4305)ttC>ttT	p.F1435F		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1435	EGF-like 24; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACTGGGCACGAAGCCCATGT	0.522000														116			58		0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170498183	170498183	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:170498183G>A	uc003isd.2	-	11	1494	c.916C>T	c.(916-918)Cag>Tag	p.Q306*	NEK1_uc003ise.2_Nonsense_Mutation_p.Q306*|NEK1_uc003isb.2_Nonsense_Mutation_p.Q306*|NEK1_uc003isc.2_Nonsense_Mutation_p.Q306*|NEK1_uc003isf.2_Nonsense_Mutation_p.Q306*|NEK1_uc003isg.1_Nonsense_Mutation_p.Q227*	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	306					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		GTAATTTTCTGAGCAGGCATA	0.328000														41			17		0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113999206	113999206	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113999206G>A	uc010yxt.2	-	6	865	c.699C>T	c.(697-699)ctC>ctT	p.L233L	PAX8_uc010yxu.2_Silent_p.L233L|PAX8_uc002tjm.3_Silent_p.L233L|PAX8_uc002tjn.3_Silent_p.L233L|PAX8_uc010fku.1_Silent_p.L233L|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	233					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CGAGCGGCTCGAGGTGGTGCT	0.627000			T	PPARG	follicular thyroid		Thyroid dysgenesis							24			24		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	94815	94815	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000209.1:94815C>T	uc002quk.1	+	5	818	c.763C>T	c.(763-765)Ctc>Ttc	p.L255F	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	255							receptor activity										CTTCATCATCCTCTTCTTCTT	0.488000														69			43		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41711233	41711233	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41711233C>T	uc002yyq.1	-	6	1772	c.1320G>A	c.(1318-1320)tgG>tgA	p.W440*	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	440	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGTCCAGGGTCCACGTGATCG	0.537000														36			15		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171071264	171071264	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:171071264G>A	uc002ufy.3	+	4	595	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	MYO3B_uc002ufv.3_Missense_Mutation_p.R138Q|MYO3B_uc010fqb.1_Missense_Mutation_p.R151Q|MYO3B_uc002ufz.3_Missense_Mutation_p.R151Q|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Missense_Mutation_p.R138Q	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	151	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CACAACAACCGAATCATCCAC	0.428000														51			19		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111584888	111584888	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:111584888G>A	uc003vfy.3	-	9	1091	c.822C>T	c.(820-822)atC>atT	p.I274I	DOCK4_uc003vfx.3_Silent_p.I274I|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Silent_p.I274I	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	274					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGTGCACGGTGATATAAATGT	0.433000														43			12		0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88307707	88307707	+	Silent	SNP	G	A	A	rs142829279		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:88307707G>A	uc011lte.2	-	1	277	c.210C>T	c.(208-210)atC>atT	p.I70I	AGTPBP1_uc011ltd.2_Silent_p.I18I|AGTPBP1_uc010mqc.3_Silent_p.I18I	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	18					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GGAGTCCTACGATCCTAGAAT	0.383000														63			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179552902	179552902	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179552902G>A	uc021vsy.1	-	123	28740	c.28515C>T	c.(28513-28515)tcC>tcT	p.S9505S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S6166S|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10432							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)			AAACTGAAATGGACACACCTT	0.393000														139			54		0	0	1	0	0
SLC17A9	63910	broad.mit.edu	37	20	61596512	61596512	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61596512C>T	uc002yea.4	+	8	1123	c.939C>T	c.(937-939)ctC>ctT	p.L313L	SLC17A9_uc002ydz.4_Silent_p.L307L|SLC17A9_uc011aap.1_Silent_p.L333L	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	313					exocytosis|transmembrane transport	integral to membrane	transporter activity	p.K312T(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TGCGGAAGCTCATGCAGGTAG	0.577000														42			21		0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156498719	156498719	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156498719G>A	uc001fpf.3	-	34	4635	c.4560C>T	c.(4558-4560)gcC>gcT	p.A1520A		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1520					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGAGTCGGGGGCCAGGTGGT	0.572000														69			17		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641670	57641670	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57641670G>A	uc002qny.3	+	3	1983	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	USP29_uc021vci.1_Missense_Mutation_p.E543K	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	543					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			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)		TTATTGCAATGAAAGCACCAA	0.418000														171			77		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86940712	86940712	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:86940712C>T	uc002blz.1	+	16	2432	c.2352C>T	c.(2350-2352)ctC>ctT	p.L784L		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	784					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						TGGCTAGGCTCTTGAGGGAAA	0.517000														138			32		0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193847	28193847	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:28193847C>T	uc003adj.3	-	0	3640	c.2685G>A	c.(2683-2685)ggG>ggA	p.G895G		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	895							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGCTACTGGTCCCGGACGGGC	0.711000			T	ETV6	"""AML, meningioma"""									20			9		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4832520	4832520	+	Silent	SNP	C	T	T	rs151154079		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:4832520C>T	uc001alm.1	+	3	1479	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P	AJAP1_uc001aln.3_Silent_p.P366P	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	366	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CATCTGTGCCCGTGTACACCG	0.592000														28			15		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130778016	130778016	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:130778016G>A	uc003ysr.3	-	3	1310	c.428C>T	c.(427-429)tCa>tTa	p.S143L		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	143						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTTCAGAAATGATGGCTCTGG	0.502000														44			19		0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57866755	57866755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57866755C>T	uc010etw.3	+	2	665	c.277C>T	c.(277-279)Cct>Tct	p.P93S	ZNF304_uc010ygw.2_Intron|ZNF304_uc010etx.3_Intron	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGGGCATGGCCCTGCTGAATG	0.522000														50			13		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30962216	30962216	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:30962216C>T	uc003tbv.2	+	2	697	c.587C>T	c.(586-588)tCc>tTc	p.S196F	FAM188B_uc011kac.1_Missense_Mutation_p.S256F|FAM188B_uc010kwf.1_Missense_Mutation_p.S113F|FAM188B_uc010kwh.1_Missense_Mutation_p.S145F|FAM188B_uc022abh.1_Missense_Mutation_p.S81F	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0								p.M196I(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGCTCGGTCCTTTGGCTCC	0.567000														263			97		0	0	1	0	0
HSPB8	26353	broad.mit.edu	37	12	119631578	119631578	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:119631578C>T	uc001txb.3	+	2	1029	c.506C>T	c.(505-507)cCc>cTc	p.P169L		NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	Homo sapiens heat shock 22kDa protein 8 (HSPB8), mRNA.	169					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCGAAGCTCCCCAGGTCCCT	0.517000														81			36		0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151339220	151339220	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151339220G>A	uc010pcy.2	-	5	898	c.768C>T	c.(766-768)ttC>ttT	p.F256F	SELENBP1_uc001exx.3_Silent_p.F214F|SELENBP1_uc010pcz.2_Silent_p.F152F|SELENBP1_uc001eya.3_Silent_p.F150F	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	214					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCGGGGTTGAAGCCATCTC	0.582000														146			50		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39068823	39068823	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39068823C>T	uc002oit.3	+	98	14473	c.14343C>T	c.(14341-14343)ttC>ttT	p.F4781F	RYR1_uc002oiu.3_Silent_p.F4776F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4781					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.F4781F(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCTGGAAGTTCGGGGTCATCT	0.607000														34			5		0	0	1	0	0
ADPRH	141	broad.mit.edu	37	3	119305206	119305206	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:119305206C>T	uc003ecs.3	+	3	671	c.373C>T	c.(373-375)Cat>Tat	p.H125Y	ADPRH_uc010hqv.3_Missense_Mutation_p.H125Y|ADPRH_uc011bjb.2_Missense_Mutation_p.H18Y|ADPRH_uc003ect.3_Missense_Mutation_p.H125Y	NM_001125	NP_001116	P54922	ADPRH_HUMAN	Homo sapiens ADP-ribosylarginine hydrolase (ADPRH), mRNA.	125					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CTTCAACAGCCATGAGGGCGG	0.607000														139			64		0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25121451	25121451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25121451C>T	uc003abd.1	-	16	2485	c.2068G>A	c.(2068-2070)Gga>Aga	p.G690R	PIWIL3_uc011ajx.1_Missense_Mutation_p.G572R|PIWIL3_uc010gut.1_Missense_Mutation_p.G681R|PIWIL3_uc011ajy.1_Missense_Mutation_p.G572R	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	690	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGCTCTTCTCCTGTTTTCTGG	0.433000														137			9		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272026	52272026	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52272026C>T	uc002pxr.3	+	1	160	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	FPR2_uc002pxs.4_Missense_Mutation_p.L39F|FPR2_uc010epf.3_Missense_Mutation_p.L39F|FPR2_uc021uyp.1_Missense_Mutation_p.L39F	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	39					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.L39F(2)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CACCTTTGTCCTCGGGGTCCT	0.552000														77			23		0	0	1	0	0
INSIG1	3638	broad.mit.edu	37	7	155094485	155094485	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:155094485C>T	uc003wly.3	+	4	944	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	INSIG1_uc003wlz.3_Silent_p.F147F|INSIG1_uc011kvu.2_Missense_Mutation_p.R93C	NM_005542	NP_005533	O15503	INSI1_HUMAN	Homo sapiens insulin induced gene 1 (INSIG1), transcript variant 1, mRNA.	245					ER-nuclear sterol response pathway|cell proliferation	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCTATATTCGTTCTTGGCT	0.418000														112			58		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27206694	27206694	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:27206694C>T	uc011lno.2	+	13	2792	c.2350C>T	c.(2350-2352)Caa>Taa	p.Q784*	TEK_uc003zqi.4_Nonsense_Mutation_p.Q827*|TEK_uc011lnp.2_Nonsense_Mutation_p.Q679*|TEK_uc003zqj.1_Nonsense_Mutation_p.Q761*	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	827					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CATCAAATTTCAAGATGTGAT	0.453000														45			9		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156915384	156915384	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156915384C>T	uc003lwz.3	-	20	2518	c.2439G>A	c.(2437-2439)agG>agA	p.R813R	ADAM19_uc003lww.2_Silent_p.R546R|ADAM19_uc003lwy.3_Silent_p.R412R|ADAM19_uc011ddr.1_Silent_p.R744R	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	813					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCTAGCAGCCCTGCTCAGGT	0.652000														79			35		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176853515	176853515	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176853515C>T	uc001glc.3	-	18	3398	c.3186G>A	c.(3184-3186)gaG>gaA	p.E1062E	ASTN1_uc001glb.1_Silent_p.E1062E|ASTN1_uc001gld.1_Silent_p.E1062E	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1070	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGTGACTTTCTCTTGACGGA	0.507000														75			30		0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158528282	158528282	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:158528282G>A	uc003wob.1	-	19	2564	c.2498C>T	c.(2497-2499)tCg>tTg	p.S833L	ESYT2_uc003wny.1_Non-coding_Transcript|ESYT2_uc003wnz.1_Missense_Mutation_p.S272L|ESYT2_uc003woa.1_Missense_Mutation_p.S410L	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	Homo sapiens extended synaptotagmin-like protein 2 (ESYT2), mRNA.	861	C2 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TTCTGGTAACGAAACACTGAA	0.438000														124			56		0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52825556	52825556	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52825556C>T	uc010ydl.2	+	4	1123	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A	ZNF480_uc002pyv.3_Silent_p.A274A|ZNF480_uc010ydm.2_Silent_p.A308A|ZNF480_uc010epn.3_Silent_p.A182A|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GTGGCAAGGCCTTCTATAGGA	0.378000														68			29		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960618	73960618	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73960618C>T	uc004eby.3	-	2	4391	c.3774G>A	c.(3772-3774)ttG>ttA	p.L1258L		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1258					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						TACATTCAGCCAATGTCTTCC	0.507000														4			19		0	0	1	0	0
CCT7	10574	broad.mit.edu	37	2	73476202	73476202	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:73476202C>T	uc002siz.3	+	7	1010	c.867C>T	c.(865-867)gtC>gtT	p.V289V	CCT7_uc010yrf.2_Silent_p.V245V|CCT7_uc010yrh.2_Silent_p.V161V|CCT7_uc010yrg.2_Silent_p.V189V|CCT7_uc010yri.2_Silent_p.V202V|CCT7_uc002sja.3_Silent_p.V85V	NM_006429	NP_001159757	Q99832	TCPH_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA.	289					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CCAAAGTTGTCTTGTCCAAAC	0.483000														58			19		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111779739	111779739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:111779739G>A	uc001tsa.2	+	20	3695	c.3541G>A	c.(3541-3543)Gag>Aag	p.E1181K		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1181						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CGAGGAGAAGGAGGCACTGCG	0.642000														89			7		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149456979	149456979	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149456979G>A	uc003lrl.3	-	4	944	c.749C>T	c.(748-750)tCt>tTt	p.S250F	CSF1R_uc011dcd.2_Missense_Mutation_p.S102F|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.S250F|CSF1R_uc011dce.1_Missense_Mutation_p.S250F|CSF1R_uc011dcf.2_Missense_Mutation_p.S250F	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	250	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ATGAAAGTCAGATTGTTGAGG	0.463000														130			46		0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65026653	65026653	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:65026653G>A	uc002jft.2	+	3	565	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA.	173					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	p.E173G(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CAAGCGGGACGAAGACAAAAA	0.512000														110			43		0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10798340	10798340	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10798340C>T	uc002mpn.3	+	17	2695	c.2378C>T	c.(2377-2379)cCc>cTc	p.P793L	ILF3_uc002mpo.3_Missense_Mutation_p.P797L|ILF3_uc002mpq.3_Missense_Mutation_p.P96S	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	793	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TACAACTCTCCCGGGGGCGGG	0.602000														44			14		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17015315	17015315	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17015315C>T	uc002nfb.3	-	30	4248	c.4216G>A	c.(4216-4218)Ggc>Agc	p.G1406S	CPAMD8_uc002nfd.1_5'Flank	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1359						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGAATGTGCCCTTGTCCACG	0.582000														74			33		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77171000	77171000	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:77171000C>T	uc010xfg.2	+	1	1178	c.725C>T	c.(724-726)cCc>cTc	p.P242L	NFATC1_uc002lnc.1_Missense_Mutation_p.P242L|NFATC1_uc010xff.1_Missense_Mutation_p.P242L|NFATC1_uc002lnd.3_Missense_Mutation_p.P242L|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.P242L|NFATC1_uc010xfi.1_Missense_Mutation_p.P229L|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.P229L|NFATC1_uc002lng.3_Missense_Mutation_p.P229L|NFATC1_uc010xfk.2_Missense_Mutation_p.P229L	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	242	3 X SP repeats.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TCCACCTCGCCCCGCGCCAGC	0.711000														39			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088839	9088839	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9088839G>A	uc002mkp.3	-	0	3180	c.2976C>T	c.(2974-2976)ctC>ctT	p.L992L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	992	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						CAGTAGCAGAGAGAGAAGTGG	0.473000														221			76		0	0	1	0	0
CCDC36	339834	broad.mit.edu	37	3	49292849	49292849	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49292849G>A	uc003cwk.2	+	8	946	c.559G>A	c.(559-561)Gac>Aac	p.D187N	CCDC36_uc011bck.1_Missense_Mutation_p.D187N	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	Homo sapiens coiled-coil domain containing 36 (CCDC36), transcript variant 1, mRNA.	187										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		GGCCCAGAATGACCTGGTGTT	0.453000														96			42		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87757920	87757920	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87757920C>T	uc003ujn.3	+	8	897	c.682C>T	c.(682-684)Cgt>Tgt	p.R228C	ADAM22_uc003uji.2_Missense_Mutation_p.R227C|ADAM22_uc003ujj.2_Missense_Mutation_p.R228C|ADAM22_uc003ujk.2_Missense_Mutation_p.R228C|ADAM22_uc003ujl.2_Missense_Mutation_p.R228C|ADAM22_uc003ujm.3_Missense_Mutation_p.R228C|ADAM22_uc003ujo.3_Missense_Mutation_p.R228C|ADAM22_uc003ujp.1_Missense_Mutation_p.R280C	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	228					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GTTACAGCTTCGTCGATATCC	0.368000														80			38		0	0	1	0	0
SLC35F2	54733	broad.mit.edu	37	11	107673741	107673741	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:107673741G>A	uc001pjq.3	-	6	1346	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	SLC35F2_uc010rvu.2_Silent_p.L161L	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	Homo sapiens solute carrier family 35, member F2 (SLC35F2), mRNA.	309					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		TAGCCAAACAGAAAGAGTCCA	0.413000														58			22		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46729621	46729621	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46729621C>T	uc003cqa.2	-	2	462	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.R90Q	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	90					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GTCAGCACCTCGCAGCAGCAG	0.612000														50			7		0	0	1	0	0
VGLL2	245806	broad.mit.edu	37	6	117586980	117586980	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:117586980C>T	uc003pxn.3	+	0	260	c.54C>T	c.(52-54)ttC>ttT	p.F18F	VGLL2_uc003pxo.3_Silent_p.F18F	NM_182645	NP_872586	Q8N8G2	VGLL2_HUMAN	Homo sapiens vestigial like 2 (Drosophila) (VGLL2), transcript variant 1, mRNA.	18					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		AGCCCTACTTCGCAGCCGCCT	0.577000														21			11		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595313	55595313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55595313G>A	uc001nhy.1	+	0	619	c.619G>A	c.(619-621)Gag>Aag	p.E207K		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E207D(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CACTTTGAATGAGAGTGTTAC	0.473000										HNSCC(27;0.073)				155			60		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160873224	160873224	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:160873224C>T	uc002ube.2	-	9	1665	c.1453_splice	c.e9-1	p.E485_splice	PLA2R1_uc010zcp.2_Splice_Site_p.E485_splice|PLA2R1_uc002ubf.3_Splice_Site_p.E485_splice	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	485	C-type lectin 2.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AGTGTCCCTCCTACGGAGAAA	0.378000														57			17		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108359225	108359225	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:108359225C>T	uc003ymn.3	-	1	866	c.398G>A	c.(397-399)aGc>aAc	p.S133N	ANGPT1_uc003ymo.3_Missense_Mutation_p.S133N	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	133					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.T132I(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AGAGAGGAGGCTGGTTCCTAT	0.498000														88			39		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11700964	11700964	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11700964C>T	uc002gne.3	+	42	8342	c.8274C>T	c.(8272-8274)caC>caT	p.H2758H	DNAH9_uc010coo.3_Silent_p.H2052H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2758					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGTATTGTCACTTTGCAAATG	0.493000														32			17		0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111343190	111343190	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:111343190C>T	uc003dxw.3	+	10	1478	c.1308C>T	c.(1306-1308)tcC>tcT	p.S436S	CD96_uc003dxx.3_Silent_p.S420S|CD96_uc010hpy.1_Silent_p.S420S	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	436	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane		p.S436T(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CCAGCAATTCCAGTATGACTA	0.393000									Opitz Trigonocephaly syndrome					87			25		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43708292	43708292	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43708292G>A	uc002ovy.3	-	1	278	c.176C>T	c.(175-177)cCc>cTc	p.P59L	PSG4_uc002ovz.3_Missense_Mutation_p.P59L|PSG4_uc002owb.3_Missense_Mutation_p.P59L	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	59	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AAGATTCTGGGGCAAATTGTG	0.443000														347			30		0	0	1	0	0
SLC16A3	9123	broad.mit.edu	37	17	80193902	80193902	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:80193902G>A	uc002kea.3	+	1	168	c.18G>A	c.(16-18)gtG>gtA	p.V6V	SLC16A3_uc021ufm.1_Silent_p.V6V|SLC16A3_uc002keb.3_Silent_p.V6V|SLC16A3_uc002kec.3_Silent_p.V6V|SLC16A3_uc002ked.3_Silent_p.V6V|SLC16A3_uc021ufn.1_Silent_p.V6V|SLC16A3_uc021ufo.1_Silent_p.V6V	NM_001042422	NP_004198	O15427	MOT4_HUMAN	Homo sapiens solute carrier family 16, member 3 (monocarboxylic acid transporter 4) (SLC16A3), transcript variant 2, mRNA.	6					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	GGGCCGTGGTGGACGAGGGCC	0.672000														21			12		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043912	20043912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20043912G>A	uc002dgu.1	-	1	369	c.207C>T	c.(205-207)ctC>ctT	p.L69L	GPR139_uc010vaw.1_5'UTR	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	69						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CGGCAGCAGCGAGTGCCAAGA	0.473000														33			17		0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20081589	20081589	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:20081589C>T	uc010nfo.2	-	2	432	c.315G>A	c.(313-315)gaG>gaA	p.E105E	MAP7D2_uc011mji.2_Silent_p.E61E|MAP7D2_uc004czr.2_Silent_p.E105E|MAP7D2_uc011mjj.2_Silent_p.E105E|MAP7D2_uc004czs.1_Silent_p.E61E	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	105										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TCTTTTGGTCCTCCCGCTGCC	0.577000														21			31		0	0	1	0	0
TLE6	79816	broad.mit.edu	37	19	2989206	2989206	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:2989206C>T	uc002lwt.2	+	11	997	c.888C>T	c.(886-888)agC>agT	p.S296S	TLE6_uc002lwu.2_Silent_p.S173S	NM_001143986	NP_079036	Q9H808	TLE6_HUMAN	Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA.	173					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		CCATCAGCAGCTTCACGCGGC	0.617000														34			13		0	0	1	0	0
TICAM1	148022	broad.mit.edu	37	19	4817564	4817564	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4817564G>A	uc002mbi.3	-	1	1077	c.826C>T	c.(826-828)Ccc>Tcc	p.P276S	TICAM1_uc021unj.1_Missense_Mutation_p.P276S	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	276	Pro-rich.				I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB 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 kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCCACTTCGGGAAGCCCAGGA	0.662000														28			16		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89985834	89985834	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89985834G>A	uc003kju.3	+	29	6743	c.6647G>A	c.(6646-6648)gGg>gAg	p.G2216E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2216					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCCAGACTAGGGGCTTTAACA	0.393000														7			6		0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116744716	116744716	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:116744716G>A	uc001ppy.3	-	11	1346	c.1310C>T	c.(1309-1311)cCc>cTc	p.P437L	SIK3_uc001ppz.3_Missense_Mutation_p.P336L|SIK3_uc001pqa.3_Missense_Mutation_p.P389L	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	437						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TGGAGCCTGGGGGTTGACTCC	0.468000														100			31		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143748099	143748099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143748099C>T	uc011ktw.2	+	0	605	c.605C>T	c.(604-606)gCt>gTt	p.A202V		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	202			A -> S (in dbSNP:rs6464573).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATCTTTGCTGCTTCAGTGTTC	0.582000														219			37		0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81422098	81422098	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:81422098C>T	uc001xvd.1	+	0	230	c.74C>T	c.(73-75)tCg>tTg	p.S25L	CEP128_uc001xva.1_Intron|TSHR_uc001xvb.1_Missense_Mutation_p.S25L|TSHR_uc001xvc.3_Missense_Mutation_p.S25L|TSHR_uc010tvs.2_Missense_Mutation_p.S25L	NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	25					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ATGGGGTGTTCGTCTCCACCC	0.607000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							99			42		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181689429	181689429	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181689429C>T	uc009wxt.3	+	13	2034	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F	CACNA1E_uc001gow.3_Silent_p.F613F|CACNA1E_uc009wxs.3_Silent_p.F613F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	613					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						TCTTCCTCTTCATCGTTGTCT	0.473000														28			12		0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3746449	3746449	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3746449G>A	uc001aky.2	-	13	2308	c.1949C>T	c.(1948-1950)cCa>cTa	p.P650L	CEP104_uc010nzm.1_Non-coding_Transcript	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	650						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GCTGTCGTCTGGAGGAAGGTA	0.488000														171			22		0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187333	123187333	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:123187333C>T	uc001ucx.1	-	0	572	c.498G>A	c.(496-498)aaG>aaA	p.K166K	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	166					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	GGATCGGCATCTTCTTCTTCA	0.537000														66			23		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238277483	238277484	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:238277483_238277484GG>AA	uc002vwl.2	-	9	4907_4908	c.4622_4623CC>TT	c.(4621-4623)ccc>cTT	p.P1541L	COL6A3_uc002vwo.2_Missense_Mutation_p.P1335L|COL6A3_uc010znj.1_Missense_Mutation_p.P934L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1541	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCAGGTGTTGGGGCACCCCGTC	0.574000														88			40		0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	938710	938710	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:938710C>T	uc003sjo.4	-	9	1249	c.1056G>A	c.(1054-1056)caG>caA	p.Q352Q	ADAP1_uc003sjm.4_Silent_p.Q178Q|ADAP1_uc011jvs.2_Silent_p.Q257Q|ADAP1_uc003sjn.4_Silent_p.Q280Q|ADAP1_uc010ksc.3_Silent_p.Q280Q	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	352	PH 2.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						CCACCGCCTTCTGGAAGGCCG	0.687000														54			18		0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29430158	29430158	+	Silent	SNP	C	T	T	rs144363872	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29430158C>T	uc003nmi.3	+	2	1055	c.612C>T	c.(610-612)ttC>ttT	p.F204F	OR2H1_uc003nmj.1_Silent_p.F204F|OR2H1_uc010jri.2_Silent_p.F126F|OR2H1_uc021ytr.1_Silent_p.F204F	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GTGTCATCTTCGTGGTTGTGC	0.502000														168			67		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107013108	107013108	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:107013108C>T	uc021ser.1	-	218		c.8768G>A								Parts of antibodies, mostly variable regions.																		CACTCCAGCCCCTTCCCTGGA	0.522000														110			25		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140779772	140779772	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140779772C>T	uc003lkf.2	+	0	2078	c.2078C>T	c.(2077-2079)gCc>gTc	p.A693V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.A693V|PCDHGC5_uc011dax.2_5'Flank|PCDHGC5_uc003lkh.2_5'Flank	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	699					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)			GTGGCCTTGGCCTTGATCTCA	0.617000														265			47		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43496117	43496117	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43496117A>T	uc002zag.1	+	1	80	c.80A>T	c.(79-81)aAa>aTa	p.K27I	UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zaf.1_Missense_Mutation_p.K27I|AX748362_uc002zah.1_Non-coding_Transcript	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	27						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTTTCAGAAAAAGGCCTCTCC	0.567000														155			74		0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144620343	144620343	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144620343G>A	uc003yyd.2	-	1	1223	c.1194C>T	c.(1192-1194)gcC>gcT	p.A398A		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	398					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCTTGCTGCTGGCCTCCGACT	0.642000														71			21		0	0	1	0	0
HOXC10	3226	broad.mit.edu	37	12	54379110	54379110	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54379110G>A	uc001sen.3	+	0	165	c.67G>A	c.(67-69)Gag>Aag	p.E23K		NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	Homo sapiens homeobox C10 (HOXC10), mRNA.	23					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CGGCGGAGGAGAGCGCTATAG	0.587000														100			46		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140389325	140389325	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140389325G>A	uc003lii.3	+	3	3432	c.2827G>A	c.(2827-2829)Gac>Aac	p.D943N	PCDHAC2_uc003lha.2_Missense_Mutation_p.D622N|PCDHAC2_uc003lhb.2_Missense_Mutation_p.D886N|PCDHAC2_uc003lhd.2_Missense_Mutation_p.D884N|PCDHAC2_uc003lhf.2_Missense_Mutation_p.D886N|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Missense_Mutation_p.D883N|PCDHAC2_uc003lhl.2_Missense_Mutation_p.D872N|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Missense_Mutation_p.D886N|PCDHAC2_uc003lhn.2_Missense_Mutation_p.D622N|PCDHAC2_uc003lhq.2_Missense_Mutation_p.D873N|PCDHAC2_uc003lhs.2_Missense_Mutation_p.D886N|PCDHAC2_uc003lhu.2_Missense_Mutation_p.D886N|PCDHAC2_uc003lhw.2_Missense_Mutation_p.D621N|PCDHAC2_uc003lhx.2_Missense_Mutation_p.D884N|PCDHAC2_uc003lia.2_Missense_Mutation_p.D885N|PCDHAC2_uc003lic.2_Missense_Mutation_p.D877N|PCDHAC2_uc003lif.2_Missense_Mutation_p.D886N|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Missense_Mutation_p.D899N	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	943	4 X 4 AA repeats of P-X-X-P.				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)			TGAGTTGCCCGACAAATTCAT	0.507000														97			8		0	0	1	0	0
UPK3B	80761	broad.mit.edu	37	7	76141016	76141016	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:76141016C>T	uc003ufq.3	+	1	668	c.443C>T	c.(442-444)cCg>cTg	p.P148L	UPK3B_uc003ufo.3_Missense_Mutation_p.P93L|UPK3B_uc010ldk.1_Missense_Mutation_p.P93L	NM_030570	NP_085047	Q9BT76	UPK3B_HUMAN	Homo sapiens uroplakin 3B (UPK3B), transcript variant 1, mRNA.	148					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GCTGACATTCCGGCCTCCCCA	0.647000														20			4		0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10398444	10398444	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10398444C>T	uc002mnr.2	+	1	596	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L	ICAM4_uc002mns.2_Silent_p.I209I|ICAM4_uc002mnt.2_Silent_p.I209I|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	0	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AGCCCGTGATCTGCCACGCGC	0.627000														94			9		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57430866	57430866	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57430866G>A	uc001smw.4	-	19	2305	c.2065C>T	c.(2065-2067)Ctc>Ttc	p.L689F	MYO1A_uc010sqz.2_Missense_Mutation_p.L527F|MYO1A_uc009zpd.3_Missense_Mutation_p.L689F	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	689					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGTTCTTCGAGGTAGAAAAGC	0.572000														89			21		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30350066	30350066	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:30350066G>A	uc002kxm.1	-	1	877	c.489C>T	c.(487-489)atC>atT	p.I163I		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	163						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GGATGTGCAGGATCTTGCTGA	0.622000														89			19		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756965	71756965	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:71756965G>A	uc003kce.1	-	1	545	c.359C>T	c.(358-360)cCg>cTg	p.P120L		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CTTGGGGCGCGGGGGCTGCGG	0.582000														188			74		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48762861	48762861	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:48762861C>T	uc001zwx.2	-	35	4824	c.4429G>A	c.(4429-4431)Gaa>Aaa	p.E1477K	FBN1_uc010beo.2_5'Flank	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1477	EGF-like 25; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGTCCAGTTCGTAGCCTATC	0.567000														60			28		0	0	1	0	0
GNA15	2769	broad.mit.edu	37	19	3157830	3157830	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3157830G>A	uc002lxf.2	+	5	1107	c.849G>A	c.(847-849)gaG>gaA	p.E283E		NM_002068	NP_002059	P30679	GNA15_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA.	283					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		ACATCCTGGAGGAGAAAATCC	0.488000														163			72		0	0	1	0	0
DOLK	22845	broad.mit.edu	37	9	131708608	131708608	+	Silent	SNP	G	A	A	rs149462670		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131708608G>A	uc004bwr.3	-	0	1405	c.975C>T	c.(973-975)tcC>tcT	p.S325S	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	Homo sapiens dolichol kinase (DOLK), mRNA.	325					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						TCTTGGACTCGGAAGATGACC	0.572000														150			66		0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107642209	107642209	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107642209G>A	uc003vev.2	-	0	240	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S	LAMB1_uc003vew.2_Intron|LAMB1_uc003vex.3_Intron|LAMB1_uc010ljn.1_Intron|U3_uc022ajz.1_5'Flank	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	0					axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.S27R(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAGTTGGGGGGACACAAGCA	0.612000														23			4		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76755238	76755238	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:76755238G>A	uc002lmt.3	+	1	3247	c.3247G>A	c.(3247-3249)Ggc>Agc	p.G1083S	SALL3_uc010dra.3_Missense_Mutation_p.G618S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1083					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCTGCCCGCGGGCGTCCAGGT	0.711000														12			11		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258636	25258636	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:25258636G>A	uc002dod.4	-	4	1288	c.881C>T	c.(880-882)tCc>tTc	p.S294F	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.S90F|ZKSCAN2_uc002doe.2_Missense_Mutation_p.S294F	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	294	KRAB.				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)		CTTGTTAGAGGAATGCAGACC	0.428000														94			9		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39666958	39666958	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39666958C>T	uc003xnj.3	-	6	616	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	ADAM2_uc003xnk.3_Intron|ADAM2_uc011lck.2_Missense_Mutation_p.E181K|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	181	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.E181D(1)|p.I180I(1)		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)		ACATGCATTTCTATATACTTT	0.259000														29			6		0	0	1	0	0
PPP1R36	145376	broad.mit.edu	37	14	65053926	65053926	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:65053926C>T	uc001xhl.1	+	9	822	c.726C>T	c.(724-726)ttC>ttT	p.F242F	PPP1R36_uc001xhm.1_5'UTR	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	242																	TTTATACTTTCTGTACATATG	0.388000														59			7		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196759830	196759830	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196759830G>A	uc002utj.4	-	29	4867	c.4766C>T	c.(4765-4767)tCc>tTc	p.S1589F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1589	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATCTTCTCGGAAAAGAATGC	0.368000														61			24		0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799896	212799896	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:212799896G>A	uc010pth.1	-	0		c.218C>T			FAM71A_uc001hjk.3_Silent_p.R559R			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TGGCGGAGAGGAGCACCAACG	0.552000														101			38		0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35563557	35563557	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:35563557G>A	uc002xgh.2	-	3	584	c.384C>T	c.(382-384)ctC>ctT	p.L128L		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	128					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GGAGAGGGTGGAGCTCAATGT	0.398000														77			37		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138293	126138293	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:126138293G>A	uc001uhe.1	+	8	2282	c.2274G>A	c.(2272-2274)ttG>ttA	p.L758L	TMEM132B_uc001uhf.1_Silent_p.L270L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	758						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)		AAGGGCCTTTGATTAAGTTAG	0.438000														118			18		0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67223019	67223019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67223019G>A	uc002erx.1	-	2	352	c.111C>T	c.(109-111)gcC>gcT	p.A37A	EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_5'UTR|EXOC3L1_uc010vje.1_Silent_p.A37A|EXOC3L1_uc002ery.1_Silent_p.A42A	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA.	37	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						AGATGCCTGAGGCCCACTTGA	0.682000														14			5		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477422	110477422	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110477422C>T	uc003yne.3	+	48	8465	c.8361C>T	c.(8359-8361)ggC>ggT	p.G2787G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2787					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			ACAAGGCTGGCTTTCGCTGGG	0.398000										HNSCC(38;0.096)				52			29		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186459485	186459485	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:186459485G>A	uc011bsa.2	+	9	1534	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	KNG1_uc003fqr.3_Intron|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	434	His-rich.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CTGGGGCCATGAAAAACAAAG	0.493000														54			20		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220503474	220503474	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220503474C>T	uc002vmo.4	+	18	3196	c.2987C>T	c.(2986-2988)tCg>tTg	p.S996L	SLC4A3_uc002vmp.4_Missense_Mutation_p.S969L|SLC4A3_uc010fwm.3_Missense_Mutation_p.S519L	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	969	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATAAGCGCTCGTGGTTCATC	0.602000														53			18		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743049	26743049	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:26743049A>G	uc001mra.2	-	0	526	c.213T>C	c.(211-213)ccT>ccC	p.P71P	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.4_Silent_p.P71P	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	71					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AGACTTCAGAAGGGGTCCCCA	0.522000														63			21		0	0	1	0	0
SLC22A4	6583	broad.mit.edu	37	5	131670542	131670542	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:131670542G>A	uc003kwq.3	+	6	1343	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	LOC553103_uc021ydj.1_Non-coding_Transcript	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	393					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CTGCTATTGCGAACCCTGCCC	0.473000														223			60		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532279	92532279	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92532279G>A	uc001pdj.4	+	8	6117	c.6100G>A	c.(6100-6102)Gtc>Atc	p.V2034I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2034	Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACCTCAGGGGTCATTCAGAC	0.463000										TCGA Ovarian(4;0.039)				51			22		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74593462	74593462	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:74593462C>T	uc002lmi.3	+	8	1603	c.1405C>T	c.(1405-1407)Cta>Tta	p.L469L	ZNF236_uc002lmj.3_Non-coding_Transcript|ZNF236_uc002lmk.1_Silent_p.L469L	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	469					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTCACCGTTTCTACCTGGTAA	0.388000														32			11		0	0	1	0	0
ZRANB2	9406	broad.mit.edu	37	1	71530793	71530793	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:71530793G>A	uc001dft.3	-	9	1251	c.957C>T	c.(955-957)tcC>tcT	p.S319S	ZRANB2-AS1_uc001dfr.3_Intron|ZRANB2_uc001dfs.3_3'UTR	NM_203350	NP_976225	O95218	ZRAB2_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 2 (ZRANB2), transcript variant 1, mRNA.	319	Required for nuclear targeting.				RNA splicing|mRNA processing	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						AACCAGAATGGGATGATCCAG	0.348000														61			7		0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5863040	5863040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5863040C>T	uc010qzq.2	-	0	88	c.88G>A	c.(88-90)Gga>Aga	p.G30R	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGGGAATCCAATCCAGATG	0.448000														84			33		0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17411114	17411114	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17411114G>A	uc001baf.3	-	7	1000	c.918C>T	c.(916-918)ccC>ccT	p.P306P	PADI2_uc010ocm.2_Intron|PADI2_uc001bag.1_Silent_p.P306P	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	306					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ACACCGACACGGGAGGCAGGA	0.587000														2			2		0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624347	123624347	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123624347C>T	uc010rzy.2	-	0	880	c.880G>A	c.(880-882)Gag>Aag	p.E294K		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCCTTCACCTCCTTGTTTCTA	0.403000														142			57		0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134366313	134366313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:134366313G>A	uc010hty.3	-	1	225	c.163C>T	c.(163-165)Cga>Tga	p.R55*	KY_uc011blw.2_Nonsense_Mutation_p.R55*|KY_uc011blx.2_Nonsense_Mutation_p.R55*|KY_uc003eqs.1_Nonsense_Mutation_p.R96*	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	55						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TGCCATCTTCGGACTCCATTT	0.383000														16			12		0	0	1	0	0
REEP2	51308	broad.mit.edu	37	5	137780194	137780194	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:137780194C>T	uc003lda.3	+	3	395	c.273C>T	c.(271-273)ttC>ttT	p.F91F	REEP2_uc003lcz.3_Silent_p.F91F|REEP2_uc011cyt.2_Silent_p.F52F	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	Homo sapiens receptor accessory protein 2 (REEP2), mRNA.	91						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACCGCAAGTTCGTGCACCCAA	0.587000														59			16		0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94395108	94395108	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94395108C>T	uc001ybz.2	+	2	988	c.663C>T	c.(661-663)ccC>ccT	p.P221P	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.P159P|FAM181A_uc021saz.1_Silent_p.P159P|FAM181A_uc010aus.2_Silent_p.P159P|FAM181A_uc001yca.2_Silent_p.P159P	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	221										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GACTGGGCCCCAGGGAGGGAC	0.627000														35			15		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74460664	74460664	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74460664G>A	uc002sko.1	-	17	2462	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.F820F|SLC4A5_uc010ffc.1_Silent_p.F820F|SLC4A5_uc002skp.1_Silent_p.F718F|SLC4A5_uc002sks.1_Silent_p.F782F	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	820						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGGGGCCACGAACCAGCCTC	0.622000														28			11		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474657	140474657	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140474657G>A	uc003lil.3	+	0	421	c.283G>A	c.(283-285)Gag>Aag	p.E95K	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	95	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTGGACCGGGAGGAGCTGTG	0.512000														96			28		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42482807	42482807	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42482807G>A	uc002osh.3	-	11	1735	c.1581C>T	c.(1579-1581)gcC>gcT	p.A527A	ATP1A3_uc010xwf.2_Silent_p.A538A|ATP1A3_uc010xwg.2_Silent_p.A497A|ATP1A3_uc002osg.3_Silent_p.A527A|ATP1A3_uc010xwh.2_Silent_p.A540A			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	527					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CATTCTGGAAGGCCTCCTTCA	0.662000														81			20		0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770107	112770107	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:112770107G>A	uc003kqm.2	-	0	622	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	144	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TCCTTGTCAAGGAGAAGGTTG	0.547000														41			30		0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23817773	23817773	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23817773C>T	uc001wjl.3	-	3	871	c.634G>A	c.(634-636)Gat>Aat	p.D212N	SLC22A17_uc010akk.3_Intron|SLC22A17_uc001wjm.3_Missense_Mutation_p.D212N|SLC22A17_uc001wjn.3_Intron	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	212					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AATCGCCAATCCTTAGAGACA	0.587000														112			43		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78943275	78943275	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:78943275C>T	uc001jxn.3	-	4	889	c.712G>A	c.(712-714)Gat>Aat	p.D238N	KCNMA1_uc021ptu.1_Missense_Mutation_p.D184N|KCNMA1_uc001jxj.2_Missense_Mutation_p.D238N|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Missense_Mutation_p.D58N|KCNMA1_uc001jxo.3_Missense_Mutation_p.D238N|KCNMA1_uc001jxm.3_Missense_Mutation_p.D238N|KCNMA1_uc001jxq.3_Missense_Mutation_p.D238N	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	238					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CACAATTTATCGTTGGCTGCA	0.428000														24			7		0	0	1	0	0
C3orf23	285343	broad.mit.edu	37	3	44402978	44402978	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:44402978C>T	uc003cnd.4	+	3	714	c.287C>T	c.(286-288)tCc>tTc	p.S96F	C3orf23_uc010him.3_Missense_Mutation_p.S96F|C3orf23_uc003cne.4_5'UTR	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	Homo sapiens chromosome 3 open reading frame 23 (C3orf23), transcript variant 1, mRNA.	96						mitochondrion				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		GACCAGAGTTCCTCCGATGGC	0.383000														76			11		0	0	1	0	0
CCDC169-SOHLH2	100526761	broad.mit.edu	37	13	36776042	36776042	+	Silent	SNP	C	T	T	rs144247429		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:36776042C>T	uc010tei.2	-	6	783	c.468G>A	c.(466-468)gaG>gaA	p.E156E	CCDC169-SOHLH2_uc001uvj.3_Silent_p.E79E	NM_001198910	NP_001185839	B4DX90	B4DX90_HUMAN	Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA.	156					regulation of transcription, DNA-dependent	nucleus											CTTCCAGCTCCTCGGCACTTA	0.393000														69			28		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976196	20976196	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20976196C>T	uc010vbe.2	-	52	9010	c.9010G>A	c.(9010-9012)Gga>Aga	p.G3004R	DNAH3_uc010vbd.2_Missense_Mutation_p.G439R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3004					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCCACAGTTCCTGAGGACAGC	0.537000														58			23		0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3784232	3784232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3784232C>T	uc002lyt.3	-	4	652	c.252G>A	c.(250-252)aaG>aaA	p.K84K	MATK_uc002lyv.3_Silent_p.K85K|MATK_uc002lyu.3_Silent_p.K43K|MATK_uc010dtq.3_Silent_p.K84K	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	84	SH3.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTACCAGCTCTTGTTCTGCC	0.697000														49			15		0	0	1	0	0
OXA1L	5018	broad.mit.edu	37	14	23235899	23235899	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23235899C>T	uc001wgn.2	+	0	169	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F	OXA1L_uc010tnc.2_Missense_Mutation_p.L57F|OXA1L_uc001wgp.2_5'Flank	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA.	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AGCAAGTCCTCTTCCGGGCAA	0.607000														128			57		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046763	73046763	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73046763C>T	uc004ebn.2	+	0		c.34724C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		AGCCTTGAGACTTCCATCCAA	0.488000														19			27		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450252	105450252	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:105450252C>T	uc022cca.1	+	0	827	c.827C>T	c.(826-828)tCa>tTa	p.S276L	MUM1L1_uc004emg.2_Missense_Mutation_p.S276L|MUM1L1_uc004emf.2_Missense_Mutation_p.S276L	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	276										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTGCTTTCTCAGAGAATATT	0.488000														11			9		0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8009922	8009922	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:8009922C>T	uc003gko.3	-	14	1523	c.1380G>A	c.(1378-1380)aaG>aaA	p.K460K	ABLIM2_uc003gkk.3_Silent_p.K124K|ABLIM2_uc003gkl.3_Silent_p.K188K|ABLIM2_uc003gkm.4_Silent_p.K408K|ABLIM2_uc003gkp.3_Silent_p.K419K|ABLIM2_uc003gkq.3_Silent_p.K460K|ABLIM2_uc003gkr.3_Silent_p.K409K|ABLIM2_uc003gkj.4_Silent_p.K494K|ABLIM2_uc003gks.3_Silent_p.K420K	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	460					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GCCAGCTGCTCTTCTGCTGAA	0.512000														68			13		0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36362863	36362863	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36362863G>A	uc002oce.3	+	5	913	c.775G>A	c.(775-777)Gag>Aag	p.E259K	APLP1_uc010xsz.2_Missense_Mutation_p.E220K|APLP1_uc002ocf.3_Missense_Mutation_p.E259K|APLP1_uc002ocg.3_Missense_Mutation_p.E162K|APLP1_uc010xta.2_Missense_Mutation_p.E253K	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	259					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTACTTCGTGGAGCCTCCGCA	0.622000														173			50		0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	9010979	9010979	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:9010979G>A	uc002czl.2	-	6	954	c.755C>T	c.(754-756)tCg>tTg	p.S252L	USP7_uc010uyk.1_Missense_Mutation_p.S153L|USP7_uc010uyj.1_Missense_Mutation_p.S153L|USP7_uc002czk.2_Missense_Mutation_p.S236L|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	252					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GCTTTTAGACGAATCATCCCC	0.358000														96			47		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325800	31325800	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:31325800G>A	uc010dmg.1	+	11	6043	c.5988G>A	c.(5986-5988)atG>atA	p.M1996I	ASXL3_uc002kxq.2_Missense_Mutation_p.M1703I	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1996					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.K1997fs*4(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATATGCCCATGAAAGAAGGTG	0.547000														128			10		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580591	140580592	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140580591_140580592CC>TT	uc003liy.3	+	0	1244_1245	c.1244_1245CC>TT	c.(1243-1245)gcc>gTT	p.A415V		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	415	Cadherin 4.				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)			GAGAGCACAGCCGAGTACAATA	0.495000														127			31		0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342997	29342997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29342997G>A	uc003nme.3	-	0	72	c.68C>T	c.(67-69)cCt>cTt	p.P23L		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q22K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						AAAGAAGAAAGGCTGCAGCTC	0.393000														61			8		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128681	152128681	+	Silent	SNP	C	T	T	rs112678204		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152128681C>T	uc001ezs.1	-	2	959	c.894G>A	c.(892-894)acG>acA	p.T298T		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	298	Gln-rich.					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						CTTGTCTGTCCGTCTGACCGT	0.507000														631			222		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122261582	122261582	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:122261582C>T	uc022akp.1	-	4	1479	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	CADPS2_uc003vkg.4_Missense_Mutation_p.E53K|CADPS2_uc022akq.1_Missense_Mutation_p.E353K|CADPS2_uc010lkq.3_Missense_Mutation_p.E353K|CADPS2_uc022akr.1_Missense_Mutation_p.E353K	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	353					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGCTGAATCTCATTCTCATCT	0.393000														104			34		0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58491150	58491150	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58491150G>A	uc002qqw.3	-	6	1516	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	ZNF606_uc010yhp.2_Missense_Mutation_p.H210Y	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TGTATTATATGATTGAAAGAT	0.318000														64			22		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107022182	107022182	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:107022182A>T	uc001kyi.1	+	25	3764	c.3537A>T	c.(3535-3537)aaA>aaT	p.K1179N		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1179						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACGCCCCCAAAATCACACTCA	0.507000														52			21		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74480229	74480229	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74480229G>A	uc002sko.1	-	9	1142	c.1140C>T	c.(1138-1140)gcC>gcT	p.A380A	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.A380A|SLC4A5_uc010ffc.1_Silent_p.A380A|SLC4A5_uc002skp.1_Silent_p.A316A|SLC4A5_uc002sks.1_Silent_p.A380A	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	380						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCCGATTGCGGGCTTTGTAGG	0.512000														43			19		0	0	1	0	0
FBXW11	23291	broad.mit.edu	37	5	171318532	171318532	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:171318532A>T	uc003mbm.1	-	5	1099	c.728T>A	c.(727-729)gTc>gAc	p.V243D	FBXW11_uc011dey.1_Missense_Mutation_p.V211D|FBXW11_uc003mbl.1_Missense_Mutation_p.V230D|FBXW11_uc003mbn.1_Missense_Mutation_p.V209D	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA.	243					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway|cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process	SCF ubiquitin ligase complex|centrosome|cytosol|nucleus	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TAAACAGTAGACACCTTTACT	0.373000														51			21		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584153	82584153	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82584153C>T	uc003uhx.2	-	4	6405	c.6116G>A	c.(6115-6117)aGc>aAc	p.S2039N	PCLO_uc003uhv.2_Missense_Mutation_p.S2039N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1970					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						TATCTCATGGCTTTCTGGGAT	0.388000														61			5		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10998270	10998270	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:10998270C>T	uc002yis.1	-	10		c.1983G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		CCCTTAGTTTCATCATTCACA	0.388000														190			34		0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166408671	166408671	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:166408671A>C	uc003irg.4	+	5	1332	c.1055A>C	c.(1054-1056)gAg>gCg	p.E352A		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	352					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCACCTGAAGAGACTCTGAAG	0.453000														61			20		0	0	1	0	0
RGL4	266747	broad.mit.edu	37	22	24036125	24036125	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:24036125G>A	uc002zxo.3	+	3	2133	c.876G>A	c.(874-876)agG>agA	p.R292R	GUSBP11_uc002zxh.4_5'Flank|GUSBP11_uc002zxi.4_5'Flank|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Silent_p.R292R|RGL4_uc002zxp.1_Silent_p.R156R|RGL4_uc002zxq.3_Silent_p.R156R			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	292	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CCCGGGACAGGGCCAGGGTGG	0.592000														61			27		0	0	1	0	0
TBC1D13	54662	broad.mit.edu	37	9	131559401	131559401	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131559401C>T	uc010myj.3	+	6	574	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TBC1D13_uc010myk.3_Missense_Mutation_p.P151S|TBC1D13_uc010myl.3_5'UTR	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	Homo sapiens TBC1 domain family, member 13 (TBC1D13), mRNA.	151	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CATCCTGGACCCCCAGAATGA	0.517000														108			29		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230252982	230252982	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:230252982G>A	uc002vpv.3	-	11	2002	c.1855_splice	c.e11+1	p.H619_splice		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	619					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AATACTTACGGATCTCACAGT	0.493000														117			41		0	0	1	0	0
SH2D7	646892	broad.mit.edu	37	15	78393354	78393354	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:78393354G>A	uc010blb.1	+	4	759	c.759G>A	c.(757-759)cgG>cgA	p.R253R		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	Homo sapiens SH2 domain containing 7 (SH2D7), mRNA.	253										endometrium(2)|kidney(2)|lung(3)	7						ACCAGGCACGGCTAGGCTTGG	0.607000														56			17		0	0	1	0	0
ZNF774	342132	broad.mit.edu	37	15	90904247	90904247	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90904247G>A	uc002bpk.4	+	3	1370	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	Homo sapiens zinc finger protein 774 (ZNF774), mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAGCACCAACGAATCCACACC	0.498000														68			16		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38753715	38753715	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38753715G>A	uc003ciq.3	-	21	4026	c.4026C>T	c.(4024-4026)ttC>ttT	p.F1342F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1342					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CATTGACCCAGAAGAAGCTGC	0.428000														109			44		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145303970	145303970	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:145303970C>T	uc021oul.1	+	8	1402	c.1367C>T	c.(1366-1368)tCa>tTa	p.S456L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.S456L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Missense_Mutation_p.S185L|NBPF10_uc021oum.1_5'UTR	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	456										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GTGCAGAAATCATCTGCCCCC	0.438000														353			56		0	0	1	0	0
RSL1D1	26156	broad.mit.edu	37	16	11931783	11931783	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:11931783G>A	uc002dbp.1	-	8	1407	c.1334C>T	c.(1333-1335)tCg>tTg	p.S445L	RSL1D1_uc010buv.1_Missense_Mutation_p.S444L|RSL1D1_uc010uyw.1_Missense_Mutation_p.S225L	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	445					regulation of protein localization|translation	large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						tttccccagcgaaggactttt	0.478000														281			151		0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155533028	155533028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155533028C>T	uc003ioj.3	-	3	471	c.330G>A	c.(328-330)ttG>ttA	p.L110L	FGG_uc003iog.3_Silent_p.L110L	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	110					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TCCTGGACTTCAAAGTAGCAG	0.318000														31			9		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25766052	25766052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:25766052G>A	uc003xes.2	-	6	836	c.571C>T	c.(571-573)Ctc>Ttc	p.L191F	DOCK5_uc003xek.3_Intron	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	191					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGCACTTGAGGAAAAATTTT	0.363000														66			7		0	0	1	0	0
MYL4	4635	broad.mit.edu	37	17	45299052	45299052	+	Missense_Mutation	SNP	G	A	A	rs138156448		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:45299052G>A	uc002ilg.3	+	4	446	c.318G>A	c.(316-318)atG>atA	p.M106I	MYL4_uc002ilh.3_Missense_Mutation_p.M106I	NM_001002841	NP_002467	P12829	MYL4_HUMAN	Homo sapiens myosin, light chain 4, alkali; atrial, embryonic (MYL4), transcript variant 1, mRNA.	106					cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CTGAAGAGATGAATGTCAAGA	0.547000														55			48		0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109844602	109844602	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:109844602G>A	uc010sxn.1	+	7	924	c.924G>A	c.(922-924)ggG>ggA	p.G308G		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AGCTCCTGGGGGTCCACCCAT	0.438000														57			21		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207669671	207669671	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207669671C>T	uc001hfy.3	+	0	199	c.59C>T	c.(58-60)cCc>cTc	p.P20L	CR1_uc009xcl.1_Missense_Mutation_p.P20L|CR1_uc001hfx.3_Missense_Mutation_p.P20L|CR1_uc021pij.1_Missense_Mutation_p.P20L|CR1_uc010psg.1_Missense_Mutation_p.P20L|CR1_uc009xcj.1_Missense_Mutation_p.P20L|CR1_uc009xck.1_Missense_Mutation_p.P20L	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	20					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCCGGTCTCCCCTTCTGCTGC	0.682000														28			17		0	0	1	0	0
RIMKLA	284716	broad.mit.edu	37	1	42875687	42875687	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:42875687C>T	uc001chi.2	+	3	652	c.514C>T	c.(514-516)Cac>Tac	p.H172Y		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA.	172	ATP-grasp.				protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						AGATAAACATCACCTCTCTGA	0.498000														185			57		0	0	1	0	0
DCTN3	11258	broad.mit.edu	37	9	34614060	34614060	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:34614060G>A	uc003zux.1	-	5	485	c.450C>T	c.(448-450)ctC>ctT	p.L150L	RPP25L_uc003zuu.3_5'Flank|RPP25L_uc003zuv.3_5'Flank|RPP25L_uc022bgh.1_5'Flank|DCTN3_uc003zuw.1_3'UTR	NM_007234	NP_009165	O75935	DCTN3_HUMAN	Homo sapiens dynactin 3 (p22) (DCTN3), transcript variant 1, mRNA.	150					G2/M transition of mitotic cell cycle|cytokinesis|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity			large_intestine(1)|skin(1)	2	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		ATTCCTCCAGGAGAGCCTTGG	0.498000														70			36		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43439821	43439821	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43439821G>A	uc002ovl.4	-	1	267	c.165C>T	c.(163-165)gtC>gtT	p.V55V	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	55	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				GCAAATTGTGGACAAGTAGAA	0.453000														204			105		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142458111	142458111	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:142458111G>A	uc003ywi.2	-	20	2796	c.2715C>T	c.(2713-2715)ttC>ttT	p.F905F	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	905							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGAGGGCCAGGAAGAGCTTGG	0.667000														8			7		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038256	75038256	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75038256C>T	uc001dgg.3	-	13	3357	c.3138G>A	c.(3136-3138)agG>agA	p.R1046R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1046	Glu-rich.							p.R1046S(2)		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						AAATTTCTTTCCTATCATCTT	0.453000														224			56		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233388106	233388106	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233388106C>T	uc001hvl.2	-	6	2357	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript|PCNXL2_uc001hvq.1_Missense_Mutation_p.E7K	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	708						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)				TCACCATGTTCATCAATGAAG	0.418000														54			18		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65499330	65499330	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65499330C>T	uc002aon.2	-	3	395	c.214G>A	c.(214-216)Gag>Aag	p.E72K		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	72					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCCAGCCGCTCATAGTCGCCC	0.612000														21			21		0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106461006	106461006	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:106461006C>T	uc001tlj.1	-	6	2940	c.1560G>A	c.(1558-1560)cgG>cgA	p.R520R		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	520							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGCCCTTCCTCCGGCAGGAGA	0.612000														59			19		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248005100	248005100	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248005100G>A	uc001idn.1	-	0	99	c.99C>T	c.(97-99)ctC>ctT	p.L33L		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCAGTAGATGAGCAGGAAAA	0.498000														38			14		0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230916267	230916267	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:230916267C>T	uc001htz.1	+	10	1407	c.1294C>T	c.(1294-1296)Ctg>Ttg	p.L432L	CAPN9_uc009xfg.1_Silent_p.L369L|CAPN9_uc001hua.1_Silent_p.L406L	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	432	Domain III.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				AGACGAACACCTGAACAAAGA	0.522000														99			36		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080850	54080850	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54080850G>A	uc002qbx.1	+	6	2470	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	ZNF331_uc002qby.1_Missense_Mutation_p.E346K|ZNF331_uc002qbz.1_Missense_Mutation_p.E346K|ZNF331_uc010eqr.1_Missense_Mutation_p.E346K|ZNF331_uc002qca.1_Missense_Mutation_p.E346K|ZNF331_uc021uzg.1_Missense_Mutation_p.E346K|ZNF331_uc021uzh.1_Missense_Mutation_p.E346K|ZNF331_uc002qcb.1_Missense_Mutation_p.E346K|ZNF331_uc002qcc.1_Missense_Mutation_p.E346K|ZNF331_uc002qcd.1_Missense_Mutation_p.E346K	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E346K(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CGTTAAGCACGAGAGGATACA	0.527000			T	?	follicular thyroid adenoma									51			21		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14752664	14752664	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:14752664G>A	uc010dlo.2	+	1	501	c.321G>A	c.(319-321)agG>agA	p.R107R	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Silent_p.R107R	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	107										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GCGAAGGGAGGACACCTCTGA	0.413000														8			3		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86487924	86487924	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:86487924G>A	uc001dlj.3	-	18	2331	c.2256_splice	c.e18+1	p.S752_splice	COL24A1_uc010osf.2_Splice_Site|COL24A1_uc010osd.2_Splice_Site_p.S52_splice|COL24A1_uc001dlk.3_Splice_Site|COL24A1_uc010ose.2_Splice_Site	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	752	Collagen-like 4.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAAACCTACTGAAGGCCCTGA	0.433000														56			25		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43986097	43986097	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:43986097C>T	uc003bdy.2	-	23	3203	c.2889G>A	c.(2887-2889)atG>atA	p.M963I	EFCAB6_uc003bdz.2_Missense_Mutation_p.M811I|EFCAB6_uc010gzi.2_Missense_Mutation_p.M811I|EFCAB6_uc010gzj.1_Missense_Mutation_p.M189I	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	963					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GATGGCGGTCCATAAGCTTAT	0.383000														82			32		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1247914	1247914	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1247914G>A	uc001lta.3	+	3	328	c.269G>A	c.(268-270)gGc>gAc	p.G90D	MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Missense_Mutation_p.G90D	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	90	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCTTCGACGGCGACGTCTTC	0.647000														25			7		0	0	1	0	0
C8orf31	286122	broad.mit.edu	37	8	144126132	144126132	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144126132G>A	uc003yxp.1	+	3	605	c.253G>A	c.(253-255)Gac>Aac	p.D85N	C8orf31_uc003yxq.1_Non-coding_Transcript|C8orf31_uc003yxr.1_Non-coding_Transcript	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN	Homo sapiens chromosome 8 open reading frame 31 (C8orf31), mRNA.	85										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGGAGACACAGACCCCATCCA	0.627000														56			16		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312163	48312163	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48312163C>T	uc003toq.2	+	16	2924	c.2900C>T	c.(2899-2901)tCa>tTa	p.S967L	ABCA13_uc010kyr.2_Missense_Mutation_p.S470L|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	967					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTTATTCTTCATTTTACCGA	0.308000														51			27		0	0	1	0	0
SLC15A4	121260	broad.mit.edu	37	12	129283928	129283928	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:129283928G>A	uc001uhu.2	-	6	1502	c.1449C>T	c.(1447-1449)tcC>tcT	p.S483S	SLC15A4_uc001uhv.2_Non-coding_Transcript	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	Homo sapiens solute carrier family 15, member 4 (SLC15A4), mRNA.	483					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		CACTCTGCATGGACTTGGGGG	0.502000														65			7		0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156395948	156395948	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:156395948C>T	uc003fav.3	+	1	884	c.462C>T	c.(460-462)tcC>tcT	p.S154S	TIPARP-AS1_uc011boq.2_5'Flank|TIPARP_uc003faw.3_Silent_p.S154S|TIPARP_uc021xgg.1_Silent_p.S154S	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	154							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGGCAGATTCCACACCAGCTC	0.488000														145			59		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651597	8651597	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8651597C>T	uc002mkj.1	-	19	2522	c.2248G>A	c.(2248-2250)Gga>Aga	p.G750R	ADAMTS10_uc002mki.1_Missense_Mutation_p.G237R|ADAMTS10_uc002mkk.1_Missense_Mutation_p.G382R	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	750	Spacer.				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						TCCTGGTCTCCCTTCAGGGCT	0.637000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		87			38		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7637888	7637888	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7637888C>T	uc002giu.1	+	5	854	c.840C>T	c.(838-840)ttC>ttT	p.F280F	DNAH2_uc002git.3_Silent_p.F280F|DNAH2_uc010vuk.2_Silent_p.F280F	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	280	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGATTGAGTTCTGGCGCAACC	0.537000														21			27		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21086851	21086851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21086851C>T	uc010vbe.2	-	20	3001	c.3001G>A	c.(3001-3003)Gaa>Aaa	p.E1001K		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1001	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGAGAGTATTCCTTGCTGGCA	0.463000														67			18		0	0	1	0	0
STAP1	26228	broad.mit.edu	37	4	68424575	68424575	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:68424575G>A	uc003hde.4	+	0	130	c.48G>A	c.(46-48)caG>caA	p.Q16Q	STAP1_uc003hdf.3_Silent_p.Q16Q	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	16					cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GGATCTTCCAGGAAAGGTTAA	0.423000														121			50		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94502338	94502338	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94502338G>A	uc001dqh.3	-	25	3924	c.3820C>T	c.(3820-3822)Ctg>Ttg	p.L1274L		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1274					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)		GTGACCTTCAGAAAAATCTGT	0.428000														153			24		0	0	1	0	0
GHRH	2691	broad.mit.edu	37	20	35885233	35885233	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:35885233G>A	uc002xgr.3	-	0	79	c.60C>T	c.(58-60)tcC>tcT	p.S20S	GHRH_uc021wdc.1_Silent_p.S20S|GHRH_uc002xgt.3_Silent_p.S20S|GHRH_uc002xgs.3_Silent_p.S20S	NM_021081	NP_066567	P01286	SLIB_HUMAN	Homo sapiens growth hormone releasing hormone (GHRH), transcript variant 1, mRNA.	20					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding			lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				GGGGAGGTGGGGAGCAGTGGG	0.597000														13			8		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48603334	48603334	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48603334G>A	uc010wmr.2	+	13	2166	c.2004G>A	c.(2002-2004)ggG>ggA	p.G668G	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	631					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCAGGCCAGGGGACAAGGAGC	0.597000														143			38		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159166837	159166837	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159166837C>T	uc001ftl.2	+	6	1118	c.939C>T	c.(937-939)acC>acT	p.T313T	CADM3_uc009wsy.1_Silent_p.T267T|CADM3_uc001ftk.2_Silent_p.T347T|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	313	Ig-like C2-type 2.				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)					CCTACTACACCCTCAATGTTA	0.488000														73			27		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100609643	100609643	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100609643T>G	uc003uxl.1	+	7	2875	c.2075T>G	c.(2074-2076)gTg>gGg	p.V692G	AK096803_uc003uxm.1_5'Flank|AK096803_uc003uxn.1_Non-coding_Transcript|MUC3A_uc010lhn.1_Intron					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GCGCTGCTGGTGCTGCTGCTG	0.791000														2			3		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139727187	139727187	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:139727187G>A	uc003vvl.1	-	9	2391	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	506	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CTCTTCCGAGGAAGAACTAAG	0.448000														100			43		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90500477	90500477	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90500477C>T	uc004app.4	+	3	1110	c.1075C>T	c.(1075-1077)Cct>Tct	p.P359S	FAM75E1_uc004apo.1_Missense_Mutation_p.P171S	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	359						integral to membrane											ATTCATCCACCCTGACGTGCA	0.582000														67			6		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949407	89949407	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89949407C>T	uc003kju.3	+	19	4112	c.4016C>T	c.(4015-4017)aCt>aTt	p.T1339I	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1339					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCATTTGGGACTGTTAATCCA	0.448000														25			13		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53045593	53045593	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53045593C>T	uc001sat.3	-	0	367	c.334G>A	c.(334-336)Ggt>Agt	p.G112S		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	112	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		ccaccgaaaccaccaccactg	0.637000														14			4		0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42807211	42807211	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:42807211C>T	uc011cps.2	-	4	392	c.294_splice	c.e4-1	p.K98_splice	SEPP1_uc011cpt.2_Splice_Site_p.K68_splice|SEPP1_uc011cpu.2_Splice_Site_p.K68_splice|SEPP1_uc003jna.3_Splice_Site	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	68					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						GTCTTCTAATCTAAAATATTT	0.289000														41			18		0	0	1	0	0
CSN1S1	1446	broad.mit.edu	37	4	70798305	70798305	+	Missense_Mutation	SNP	C	T	T	rs151264882	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:70798305C>T	uc003hep.1	+	1	81	c.32C>T	c.(31-33)gCt>gTt	p.A11V	CSN1S1_uc003heq.1_Missense_Mutation_p.A11V|CSN1S1_uc003her.1_Missense_Mutation_p.A11V	NM_001890	NP_001881	P47710	CASA1_HUMAN	Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA.	11						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TGTCTTGTGGCTGTTGCTCTT	0.378000														20			7		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386213	56386213	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56386213G>A	uc002ivx.4	-	21	5291	c.4420C>T	c.(4420-4422)Cgg>Tgg	p.R1474W	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.R1414W|BZRAP1_uc010wnt.2_Missense_Mutation_p.R1474W	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1474						mitochondrion	benzodiazepine receptor binding	p.S1473A(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGCACCTCCGGGAAGGGCCC	0.657000														26			13		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17013509	17013509	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17013509C>T	uc002nfb.3	-	34	4808	c.4776G>A	c.(4774-4776)gcG>gcA	p.A1592A	CPAMD8_uc002nfd.1_Silent_p.A57A	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1545						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCTGATCGGCCGCTGGGTCAT	0.662000														41			11		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145109788	145109788	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145109788G>A	uc003zar.3	-	17	2520	c.2438C>T	c.(2437-2439)cCt>cTt	p.P813L	OPLAH_uc003zas.1_Missense_Mutation_p.P62L	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	813							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CACGTCGCCAGGGTGGAGATC	0.677000														26			11		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19471629	19471629	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19471629G>A	uc002dgc.4	+	5	1870	c.1121G>A	c.(1120-1122)aGg>aAg	p.R374K	TMC5_uc010vaq.2_Missense_Mutation_p.R374K|TMC5_uc002dgb.4_Missense_Mutation_p.R374K|TMC5_uc010var.2_Missense_Mutation_p.R374K|TMC5_uc002dgd.1_Missense_Mutation_p.R128K|TMC5_uc002dge.4_Missense_Mutation_p.R128K|TMC5_uc002dgf.4_Missense_Mutation_p.R36K|TMC5_uc002dgg.4_Missense_Mutation_p.R15K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	374						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						AACCAGCCAAGGACCATGGAA	0.398000														40			17		0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119229819	119229819	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:119229819G>A	uc001pwm.4	-	5	1382	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	USP2_uc001pwl.4_Missense_Mutation_p.R154C|USP2_uc001pwn.4_Missense_Mutation_p.R120C	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	363					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGAAGAAAGCGAAGGAACTCC	0.527000														21			38		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48391447	48391447	+	Missense_Mutation	SNP	G	A	A	rs1050861		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48391447G>A	uc001rqu.3	-	6	654	c.473C>T	c.(472-474)cCt>cTt	p.P158L	COL2A1_uc001rqv.3_Missense_Mutation_p.P89L	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	158			P -> L (in dbSNP:rs1050861).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	aggATTTCCAGGGGTCCCAGG	0.582000														64			20		0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74868895	74868895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74868895C>T	uc002jti.3	+	0	167	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F	MGAT5B_uc002jtg.4_Intron|MGAT5B_uc002jth.3_Intron	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	12						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACGATGGCCCTTCCTGCCCT	0.577000														38			9		0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1957858	1957858	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:1957858G>A	uc003gdz.4	+	14	3000	c.2824G>A	c.(2824-2826)Ggg>Agg	p.G942R	WHSC1_uc003geb.4_Missense_Mutation_p.G942R|WHSC1_uc003gec.4_Missense_Mutation_p.G942R|WHSC1_uc003ged.4_Missense_Mutation_p.G942R|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_Missense_Mutation_p.G161R|WHSC1_uc011bvh.2_Missense_Mutation_p.G3R|WHSC1_uc010icf.3_Missense_Mutation_p.G290R	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	942	PWWP 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GTACATGGAGGGGGACCGGGG	0.512000			T	IGH@	MM									230			95		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754690	49754690	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:49754690G>A	uc003ozu.3	-	0	364	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	71					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TCAGGCATGGGAACACCATCA	0.502000														102			21		0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52790077	52790077	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:52790077G>A	uc002xwv.2	-	0	440	c.42C>T	c.(40-42)ttC>ttT	p.F14F	CYP24A1_uc002xwu.1_5'Flank|CYP24A1_uc002xww.2_Silent_p.F14F	NM_000782	NP_000773	Q07973	CP24A_HUMAN	Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	14					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCTGCTGCAGGAAGGCGGCAA	0.687000														6			3		0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14751223	14751223	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:14751223C>T	uc003jfm.4	-	4	973	c.642G>A	c.(640-642)aaG>aaA	p.K214K		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	214					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CGTGAATGTTCTTGTAGTAGC	0.562000														66			23		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95764944	95764944	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:95764944G>A	uc003kls.2	-	1	497	c.258C>T	c.(256-258)atC>atT	p.I86I	PCSK1_uc021ybq.1_Silent_p.I39I	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	86					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATCTCTTAGTGATATGAAAGG	0.318000														61			29		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108723676	108723676	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108723676C>T	uc003dxl.3	-	19	2160	c.2073G>A	c.(2071-2073)ctG>ctA	p.L691L	MORC1_uc011bhn.2_Silent_p.L670L	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	691					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GGGCATTCTTCAGGCACCCTT	0.338000														311			106		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11117598	11117598	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:11117598G>A	uc003jfa.1	-	12	2386	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	CTNND2_uc010itt.2_Silent_p.I656I|CTNND2_uc011cmy.1_Silent_p.I410I|CTNND2_uc011cmz.1_Silent_p.I314I|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.I314I	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	747					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCGCAGACTGGATCACGTACA	0.507000														122			56		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29416375	29416375	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29416375C>T	uc002rmy.3	-	28	5530	c.4578G>A	c.(4576-4578)gaG>gaA	p.E1526E	ALK_uc010ymo.2_Silent_p.E458E	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1526					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TGTCGTGTGGCTCCTTCTTTG	0.547000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					242			91		0	0	1	0	0
SRC	6714	broad.mit.edu	37	20	36030030	36030030	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36030030G>A	uc002xgx.3	+	10	1514	c.1065G>A	c.(1063-1065)ggG>ggA	p.G355G	SRC_uc002xgy.3_Silent_p.G355G|SRC_uc021wdd.1_5'Flank	NM_005417	NP_938033	P12931	SRC_HUMAN	Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	355	Protein kinase.				Ras protein signal transduction|T cell costimulation|axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly	caveola|cytosol|mitochondrial inner membrane	ATP binding|SH2 domain binding|SH3/SH2 adaptor activity|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	TTCTCAAGGGGGAGACAGGCA	0.622000														79			21		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6833918	6833919	+	Splice_Site	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6833918_6833919GG>AA	uc002mfu.1	+	19	1829	c.1732_splice	c.e19-1	p.D578_splice	VAV1_uc010xjh.1_Splice_Site_p.D546_splice|VAV1_uc010dva.1_Splice_Site_p.D578_splice|VAV1_uc002mfv.1_Splice_Site_p.D523_splice	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	578					T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TCTCCTTCCAGGACAAACTACA	0.535000														76			31		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269471	150269471	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150269471C>T	uc003whl.3	+	2	395	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Missense_Mutation_p.R119C	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	105							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGATTATTCGCTGCATTCT	0.522000														64			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590257	179590257	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179590257C>T	uc021vsy.1	-	67	17167	c.16942G>A	c.(16942-16944)Gaa>Aaa	p.E5648K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E2309K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6575	Ig-like 37.						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)			ATCACTTCTTCCTTCTCTTTA	0.433000														62			18		0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60557857	60557857	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60557857C>T	uc001npz.1	+	1	145	c.49C>T	c.(49-51)Cca>Tca	p.P17S		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	17						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						TAGGGGGCTCCCATCATGGCA	0.617000														86			30		0	0	1	0	0
EFHA2	286097	broad.mit.edu	37	8	16935309	16935309	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:16935309C>T	uc003wxd.2	+	3	627	c.585C>T	c.(583-585)ctC>ctT	p.L195L		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	Homo sapiens EF-hand domain family, member A2 (EFHA2), mRNA.	195						integral to membrane	calcium ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(4)	23				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		ATCAAATGCTCGCAGAAACAC	0.313000														46			13		0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380880	56380880	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56380880C>T	uc001nja.1	-	0	99	c.99G>A	c.(97-99)gcG>gcA	p.A33A	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	33					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						TTAGGTAGATCGCAAGGAATA	0.493000														76			48		0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34497596	34497596	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:34497596C>T	uc003ojo.3	+	5	1024	c.766C>T	c.(766-768)Ctc>Ttc	p.L256F	PACSIN1_uc003ojp.3_Missense_Mutation_p.L256F	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	256					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CAAACGGCACCTCAACCTGGC	0.582000														14			6		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	432479	432479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:432479G>A	uc003bot.3	+	20	3208	c.2566G>A	c.(2566-2568)Gga>Aga	p.G856R	CHL1_uc003bou.3_Missense_Mutation_p.G840R|CHL1_uc003bow.2_Missense_Mutation_p.G840R|CHL1_uc011asi.2_Missense_Mutation_p.G856R	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	840	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAGAGTACATGGACGTCTGAA	0.383000														70			9		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43052675	43052675	+	Missense_Mutation	SNP	G	A	A	rs145902391		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43052675G>A	uc002xma.3	+	7	999	c.910G>A	c.(910-912)Gat>Aat	p.D304N	HNF4A_uc002xlt.3_Missense_Mutation_p.D282N|HNF4A_uc002xlu.3_Missense_Mutation_p.D282N|HNF4A_uc002xlv.3_Missense_Mutation_p.D282N|HNF4A_uc002xly.3_Missense_Mutation_p.D304N|HNF4A_uc010ggq.3_Missense_Mutation_p.D297N|HNF4A_uc002xlz.3_Missense_Mutation_p.D304N	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	304					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.D304E(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGGGCTGAGCGATCCAGGGAA	0.607000														22			9		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44044528	44044528	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44044528G>A	uc001cjr.3	+	6	956	c.616G>A	c.(616-618)Gag>Aag	p.E206K	PTPRF_uc001cjq.4_Missense_Mutation_p.E212K|PTPRF_uc001cjs.3_Missense_Mutation_p.E206K|PTPRF_uc001cjt.4_Missense_Mutation_p.E206K	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	206	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.R206H(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGCAAGTACGAGTGTGTGGC	0.602000														51			14		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60193679	60193679	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:60193679G>A	uc001xen.1	-	2	1932	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S	RTN1_uc001xem.1_Missense_Mutation_p.P155S	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	575					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGGGCGCCAGGACCTAGAGGC	0.587000														12			12		0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37903043	37903043	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:37903043G>A	uc003tfn.3	+	7	805	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	145					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AGTTAGTGAAGAATCACCATG	0.343000														105			24		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395724	154395724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:154395724G>A	uc010jih.1	+	0	2465	c.2305G>A	c.(2305-2307)Gaa>Aaa	p.E769K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	769	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.L768F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGACCTCCTTGAAGACAGAAA	0.453000														44			19		0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129921871	129921871	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:129921871G>A	uc003qbr.3	-	10	1577	c.1488C>T	c.(1486-1488)tcC>tcT	p.S496S	ARHGAP18_uc011ebw.2_Silent_p.S496S	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA.	496	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GCTGTTCACTGGACTTCAATC	0.363000														78			27		0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31286903	31286903	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31286903G>A	uc003aiy.1	+	7	1916	c.1812G>A	c.(1810-1812)ggG>ggA	p.G604G	OSBP2_uc011ala.1_Silent_p.G438G|OSBP2_uc010gwc.1_Silent_p.G431G|OSBP2_uc011alb.1_Silent_p.G555G|OSBP2_uc003aiz.1_Silent_p.G603G|OSBP2_uc003aja.1_Silent_p.G237G|OSBP2_uc011alc.2_Silent_p.G346G|OSBP2_uc011ald.1_Silent_p.G148G|OSBP2_uc010gwd.1_Silent_p.G149G	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	604					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CCATGCTGGGGGAGACCTTCG	0.662000											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			16		0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71864319	71864319	+	Missense_Mutation	SNP	G	A	A	rs150494393		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:71864319G>A	uc004ahe.3	+	19	3227	c.2909G>A	c.(2908-2910)cGa>cAa	p.R970Q	TJP2_uc011lrs.2_Intron|TJP2_uc004ahd.3_3'UTR|TJP2_uc004ahf.3_Intron|TJP2_uc011lru.2_Intron|TJP2_uc011lrv.2_Missense_Mutation_p.R1001Q|TJP2_uc010mom.1_Intron	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	970					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CCAGAGCCACGAGCTCAGATG	0.542000														21			8		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32554771	32554771	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:32554771C>T	uc002yow.1	-	15	3326	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	TIAM1_uc011adk.1_Missense_Mutation_p.E952K|TIAM1_uc011adl.1_Missense_Mutation_p.E892K	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	952					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGGGGGCTCTCGCCAAGGTCG	0.662000														15			8		0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60241837	60241837	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:60241837C>T	uc002lip.4	+	12	2523	c.2523C>T	c.(2521-2523)atC>atT	p.I841I	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Silent_p.I311I	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	841					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCCTGAGCATCGCATCACCAA	0.507000														90			26		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48547612	48547612	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48547612G>A	uc003toq.2	+	49	13515	c.13491G>A	c.(13489-13491)agG>agA	p.R4497R	ABCA13_uc010kys.1_Silent_p.R1572R|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.R227R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4497					transport	integral to membrane	ATP binding|ATPase activity	p.P4497Q(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGGCTACAGGATGTACTGGT	0.488000														34			8		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364037	22364037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22364037C>T	uc002nqs.1	-	2	800	c.482G>A	c.(481-483)aGa>aAa	p.R161K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	161					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)				AGTATAAATTCTTTCATGTTG	0.338000														84			32		0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233346338	233346338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233346338C>T	uc002vsv.2	-	13	2072	c.1867G>A	c.(1867-1869)Ggc>Agc	p.G623S	ECEL1_uc010fya.1_Missense_Mutation_p.G621S|ECEL1_uc010fyb.1_Missense_Mutation_p.G330S	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	623					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	p.G623D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TCATACTGGCCCCCTGTGGGC	0.652000														27			11		0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120279789	120279789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:120279789C>T	uc001ehz.3	+	7	1072	c.845C>T	c.(844-846)cCc>cTc	p.P282L	PHGDH_uc009whm.3_Missense_Mutation_p.P180L|PHGDH_uc001eib.3_Missense_Mutation_p.P248L	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	282					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	ATCAGCTGTCCCCACCTGGGT	0.592000														35			16		0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14307789	14307789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:14307789C>T	uc021war.1	-	0	364	c.364G>A	c.(364-366)Gat>Aat	p.D122N	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.D122N|FLRT3_uc002wow.2_Missense_Mutation_p.D122N	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	122					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GAAAGTGAATCATAAGTGATA	0.358000														118			49		0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	346892	346892	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:346892G>A	uc002kkm.3	-	4	945	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	244					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				ACCTGCTGCAGATTTTGAAAG	0.527000														85			28		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884482	228884482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228884482C>T	uc002vpq.2	-	6	1135	c.1088G>A	c.(1087-1089)aGa>aAa	p.R363K	SPHKAP_uc002vpp.2_Missense_Mutation_p.R363K|SPHKAP_uc010zlx.1_Missense_Mutation_p.R363K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	363						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TAGGTTGCTTCTCTGCTCTGC	0.438000														101			34		0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24608226	24608226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:24608226C>T	uc004dbi.3	-	3	633	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	PCYT1B_uc004dbk.4_Missense_Mutation_p.E134K|PCYT1B_uc004dbj.3_Missense_Mutation_p.E116K	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	134	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CTGAGAGCTTCGTATCTCTCG	0.443000														14			23		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212537927	212537927	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:212537927C>T	uc002veg.1	-	13	1776	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	ERBB4_uc002veh.1_Missense_Mutation_p.E560K|ERBB4_uc010zji.1_Missense_Mutation_p.E560K|ERBB4_uc010zjj.1_Missense_Mutation_p.E560K|ERBB4_uc010fut.1_Missense_Mutation_p.E560K	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	560	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TCCATCTTCTCACACTGGGGG	0.463000										TSP Lung(8;0.080)				52			21		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62038627	62038627	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:62038627C>T	uc001jky.3	-	3	657	c.319G>A	c.(319-321)Gga>Aga	p.G107R	ANK3_uc010qih.2_Missense_Mutation_p.G90R|ANK3_uc001jkz.4_Missense_Mutation_p.G101R|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	107					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						GCTGTGTTTCCTTTCTGTGAA	0.383000														105			35		0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130952776	130952776	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:130952776C>T	uc002tqv.3	-	2	352	c.251G>A	c.(250-252)aGg>aAg	p.R84K		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	Homo sapiens tubulin, alpha 3e (TUBA3E), mRNA.	84					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GAAGAGCTGCCTGTAGGTCCC	0.507000														149			42		0	0	1	0	0
HIST1H2BA	255626	broad.mit.edu	37	6	25727181	25727181	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:25727181C>T	uc003nfd.3	+	0	45	c.45C>T	c.(43-45)ggC>ggT	p.G15G	HIST1H2AA_uc003nfc.3_5'Flank	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN	Homo sapiens histone cluster 1, H2ba (HIST1H2BA), mRNA.	15					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						CCAAGAAGGGCTTTAAGAAAG	0.453000														77			30		0	0	1	0	0
TOMM40L	84134	broad.mit.edu	37	1	161196322	161196322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161196322C>T	uc001fzd.3	+	1	272	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	APOA2_uc001fzc.1_5'Flank|TOMM40L_uc010pkk.1_Non-coding_Transcript|TOMM40L_uc010pkl.1_Missense_Mutation_p.R15C|TOMM40L_uc009wue.3_5'UTR|TOMM40L_uc009wuf.2_Non-coding_Transcript|TOMM40L_uc001fze.3_Missense_Mutation_p.R15C	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like (TOMM40L), nuclear gene encoding mitochondrial protein, mRNA.	15					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GACTTTGCCCCGCCGGAGCCC	0.602000														44			12		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854251	88854251	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:88854251G>A	uc010kbz.3	-	1	873	c.743C>T	c.(742-744)gCc>gTc	p.A248V	CNR1_uc011dzr.2_Missense_Mutation_p.A248V|CNR1_uc011dzs.2_Missense_Mutation_p.A248V|CNR1_uc003pmq.4_Missense_Mutation_p.A248V|CNR1_uc011dzt.2_Missense_Mutation_p.A248V|CNR1_uc010kca.3_Missense_Mutation_p.A215V|CNR1_uc021zco.1_Missense_Mutation_p.A248V	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	248					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.A248A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AGGCAGCACGGCGATCACAAT	0.527000														65			9		0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58129186	58129186	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:58129186C>T	uc001spq.3	-	1	1193	c.1193G>A	c.(1192-1194)tGg>tAg	p.W398*	AGAP2_uc001spp.3_Nonsense_Mutation_p.W398*|AGAP2_uc001spr.3_Nonsense_Mutation_p.W62*	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	398					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GCTCAAAGTCCATTCCTGGCT	0.592000														24			3		0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085862	42085862	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42085862G>A	uc002ore.4	+	2	677	c.581G>A	c.(580-582)tGg>tAg	p.W194*	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Nonsense_Mutation_p.W194*	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	194	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						AAGCTGTCCTGGTTTAACCAT	0.542000														25			7		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581641	7581641	+	Missense_Mutation	SNP	G	A	A	rs142885240	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7581641G>A	uc003mxp.1	+	22	5497	c.5218G>A	c.(5218-5220)Gaa>Aaa	p.E1740K	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1740	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.E1740K(2)		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)		AGGACGAAGCGAAGCGGACAG	0.507000														133			46		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2604948	2604948	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:2604948G>A	uc002wgf.1	+	16	2227	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K	TMC2_uc002wgg.1_Missense_Mutation_p.E722K	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	738						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGTCCTCCAAGAGACCATTGA	0.483000														99			35		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118629336	118629336	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:118629336C>T	uc001ehk.2	-	11	1637	c.1569G>A	c.(1567-1569)ctG>ctA	p.L523L		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	523						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CATGATAGTTCAGTAGGAGGG	0.378000														98			45		0	0	1	0	0
ALAD	210	broad.mit.edu	37	9	116155791	116155791	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116155791G>A	uc011lxf.2	-	1	251	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	ALAD_uc011lxe.2_Missense_Mutation_p.R17W|ALAD_uc004bhl.4_5'UTR	NM_000031	NP_000022	P13716	HEM2_HUMAN	Homo sapiens aminolevulinate dehydratase (ALAD), mRNA.	17					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	TGCCAGGCCCGAAGTAGTGGG	0.617000														46			13		0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156711062	156711062	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:156711062G>A	uc021xgh.1	+	8	1219	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	74										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACTGAAAAATGAAAGGTGCAG	0.294000														68			19		0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187389	12187389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12187389C>T	uc002mtb.2	+	3	1597	c.1454C>T	c.(1453-1455)tCa>tTa	p.S485L	ZNF844_uc010dym.1_Missense_Mutation_p.S328L	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GTAAAGCCTTCATTTTTTCCA	0.448000														70			38		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99315203	99315203	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99315203C>T	uc003uru.3	-	4	481	c.378G>A	c.(376-378)tgG>tgA	p.W126*	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.	126					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)					GTATTCTCTTCCATTCTTCAT	0.383000														63			6		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24561588	24561588	+	Silent	SNP	C	T	T	rs150284461		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:24561588C>T	uc002zzi.1	+	30	5128	c.5001C>T	c.(4999-5001)ctC>ctT	p.L1667L	CABIN1_uc021wnc.1_Silent_p.L1617L|CABIN1_uc002zzj.1_Silent_p.L1588L|CABIN1_uc002zzl.2_Silent_p.L1667L|CABIN1_uc002zzm.1_Silent_p.L92L	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1667					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGAGCGAGCTCGCAGAGGTAT	0.612000														20			8		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881789	228881789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228881789C>T	uc002vpq.2	-	6	3828	c.3781G>A	c.(3781-3783)Gat>Aat	p.D1261N	SPHKAP_uc002vpp.2_Missense_Mutation_p.D1261N|SPHKAP_uc010zlx.1_Missense_Mutation_p.D1261N	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1261						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCAAAGCCATCTAAAGAGTTG	0.542000														64			18		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	48994003	48994003	+	Missense_Mutation	SNP	T	C	C	rs146104899	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:48994003T>C	uc003gyv.3	+	3	589	c.407T>C	c.(406-408)cTa>cCa	p.L136P	CWH43_uc011bzl.2_Missense_Mutation_p.L109P	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	136					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTTGTTGTTCTACGCATATGG	0.373000														69			26		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169519217	169519217	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169519217C>T	uc001ggg.1	-	9	1578	c.1433G>A	c.(1432-1434)gGg>gAg	p.G478E	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	478	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATAGGTTTCCCCTGGTTGAAC	0.353000														146			38		0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737607	248737607	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248737607G>A	uc001iep.1	-	0	452	c.452C>T	c.(451-453)tCa>tTa	p.S151L		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	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;0.0265)			CCAGCAGGCTGACACCAGGAG	0.517000														30			16		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447223	226447223	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:226447223C>T	uc002voe.2	+	3	1265	c.1090C>T	c.(1090-1092)Ccc>Tcc	p.P364S	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.P134S	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	364	Pro-rich.																CACGAAGCTTCCCGTGCTGGA	0.637000														31			18		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20709625	20709625	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:20709625G>A	uc001reh.2	+	1	1032	c.992G>A	c.(991-993)cGa>cAa	p.R331Q		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	331					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GACCACAAACGAGGGCCAAGA	0.348000														146			17		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196913028	196913028	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196913028T>C	uc002utj.4	-	3	343	c.242A>G	c.(241-243)cAg>cGg	p.Q81R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	81	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCATGGGACTGTTCATTTTT	0.363000														75			24		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57171830	57171830	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57171830G>A	uc001cyk.4	+	7	1430	c.1359G>A	c.(1357-1359)atG>atA	p.M453I		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	453					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ACGTGAAAATGAGCTTACAAC	0.343000														63			28		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150842649	150842649	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:150842649C>T	uc004fev.4	+	14	2498	c.2166C>T	c.(2164-2166)acC>acT	p.T722T		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	722						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)					GCCAACCCACCTACCATCAGG	0.567000														52			36		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	160016	160016	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000192.1:160016C>T	uc010yih.1	-	11		c.2406G>A						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											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)				cgtggtcctcctccccttccc	0.632000														11			4		0	0	1	0	0
PLGLA	285189	broad.mit.edu	37	2	107002828	107002828	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:107002828G>A	uc002tdp.3	+	0		c.60G>A								Homo sapiens plasminogen-like A (PLGLA), non-coding RNA.																		AAGCAGAGAAGAATGTGCAGC	0.473000														276			66		0	0	1	0	0
IL3	3562	broad.mit.edu	37	5	131398405	131398405	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:131398405G>A	uc003kwe.1	+	4	433	c.380G>A	c.(379-381)cGg>cAg	p.R127Q		NM_000588	NP_000579	P08700	IL3_HUMAN	Homo sapiens interleukin 3 (colony-stimulating factor, multiple) (IL3), mRNA.	127					cell-cell signaling|immune response|nervous system development|positive regulation of DNA replication|positive regulation of cell proliferation|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	AATGAATTCCGGAGGAAACTG	0.483000											OREG0016762	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		117			41		0	0	1	0	0
TRBV30	28557	broad.mit.edu	37	7	142510528	142510528	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142510528C>T	uc003wbp.2	-	1	190	c.78G>A	c.(76-78)gcG>gcA	p.A26A	TRBV30_uc022aob.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GCACCAGGGTCGCTGGCCATT	0.577000														13			4		0	0	1	0	0
NRN1L	123904	broad.mit.edu	37	16	67920138	67920138	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67920138C>T	uc002euu.3	+	2	500	c.474C>T	c.(472-474)gcC>gcT	p.A158A	EDC4_uc002eut.1_3'UTR	NM_198443	NP_940845	Q496H8	NRN1L_HUMAN	Homo sapiens neuritin 1-like (NRN1L), mRNA.	158						anchored to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		TGGCTCTGGCCTACCTCCTGA	0.682000														16			5		0	0	1	0	0
SERPINF2	5345	broad.mit.edu	37	17	1650748	1650748	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:1650748C>T	uc002ftk.1	+	6	734	c.657C>T	c.(655-657)ttC>ttT	p.F219F	SERPINF2_uc010vqr.1_Silent_p.F155F|SERPINF2_uc021tnm.1_Silent_p.F219F	NM_000934	NP_001159392	P08697	A2AP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA.	219					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	TTCAGGAATTCCTCTCTGGGC	0.587000														13			10		0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113202003	113202003	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:113202003G>A	uc001vse.1	-	9	1286	c.1099C>T	c.(1099-1101)Ctc>Ttc	p.L367F	TUBGCP3_uc010tjq.1_Missense_Mutation_p.L357F|TUBGCP3_uc001vsf.3_Missense_Mutation_p.L367F|TUBGCP3_uc001vsg.1_Missense_Mutation_p.L367F	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	367					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	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)					CAAACCAGGAGGCGCCGAAGT	0.473000														60			11		0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39978721	39978721	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:39978721C>T	uc010ggh.3	+	6	880	c.789C>T	c.(787-789)tcC>tcT	p.S263S	LPIN3_uc002xjx.3_Silent_p.S262S|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	262					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GGCCCGAGTCCTCAGTGGTCC	0.627000														11			3		0	0	1	0	0
MMP17	4326	broad.mit.edu	37	12	132334539	132334539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:132334539C>T	uc001ujc.1	+	8	1496	c.1397C>T	c.(1396-1398)cCc>cTc	p.P466L	MMP17_uc001ujd.1_Missense_Mutation_p.P382L	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA.	466	Hemopexin-like 3.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CCCGGCTACCCCGCCCAGAGC	0.657000														44			30		0	0	1	0	0
SPANXE	171489	broad.mit.edu	37	X	140785651	140785651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140785651C>T	uc004fbq.3	-	1	358	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	89						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					ACCATTATTTCCATGAATTCC	0.433000														74			81		0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52886564	52886564	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52886564C>T	uc001sam.3	-	0	618	c.409G>A	c.(409-411)Gag>Aag	p.E137K		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	137	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACGGTGACCTCTTGGATGCCT	0.632000														58			22		0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18763838	18763838	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:18763838G>A	uc001mpd.3	-	6	1127	c.696C>T	c.(694-696)ctC>ctT	p.L232L	PTPN5_uc001mpb.3_Silent_p.L200L|PTPN5_uc001mpc.3_Silent_p.L232L|PTPN5_uc010rdj.2_Silent_p.L176L|PTPN5_uc001mpf.3_Silent_p.L208L|PTPN5_uc001mpe.3_Silent_p.L200L|PTPN5_uc010rdk.2_Silent_p.L177L	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	232						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						ACTTGACGGTGAGTGAGGTGG	0.592000														104			44		0	0	1	0	0
PSORS1C2	170680	broad.mit.edu	37	6	31105856	31105856	+	Missense_Mutation	SNP	G	A	A	rs144826968	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31105856G>A	uc003nso.4	-	1	607	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron|PSORS1C1_uc003nsn.2_Intron	NM_014069	NP_054788	Q9UIG4	PS1C2_HUMAN	Homo sapiens psoriasis susceptibility 1 candidate 2 (PSORS1C2), mRNA.	95						extracellular region				NS(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCAGGCCGGGGAGGTTGAGGA	0.657000														50			31		0	0	1	0	0
C1orf64	149563	broad.mit.edu	37	1	16332591	16332591	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16332591A>G	uc001axn.3	+	1	328	c.260A>G	c.(259-261)gAa>gGa	p.E87G		NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN	Homo sapiens chromosome 1 open reading frame 64 (C1orf64), mRNA.	87										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTGTGGGGAAAACTGGCCC	0.642000														98			55		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50278595	50278595	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:50278595G>A	uc002lfe.2	+	1	879	c.263G>A	c.(262-264)aGg>aAg	p.R88K	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	88	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGGATGAAAGGAAGCAGCAA	0.483000														99			20		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13701506	13701506	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13701506C>T	uc003jfd.2	-	76	13420	c.13378G>A	c.(13378-13380)Gaa>Aaa	p.E4460K	DNAH5_uc003jfc.2_Missense_Mutation_p.E628K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4460					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)					TCTATAAGTTCAGTAAACCAG	0.393000									Kartagener syndrome					109			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069821	9069821	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9069821G>A	uc002mkp.3	-	2	17829	c.17625C>T	c.(17623-17625)acC>acT	p.T5875T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5877	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						CCAGGGTAAGGGTAGCCTGTG	0.493000														94			36		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103124664	103124664	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103124664C>T	uc002tbz.4	+	4	1782	c.1325C>T	c.(1324-1326)cCt>cTt	p.P442L		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	442					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						TTTTTGCTTCCTCTGTCTCTT	0.378000														60			31		0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	939091	939091	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:939091C>T	uc003sjo.4	-	8	1025	c.832G>A	c.(832-834)Gat>Aat	p.D278N	ADAP1_uc003sjm.4_Missense_Mutation_p.D104N|ADAP1_uc011jvs.2_Missense_Mutation_p.D183N|ADAP1_uc003sjn.4_Missense_Mutation_p.D206N|ADAP1_uc010ksc.3_Missense_Mutation_p.D206N	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	278	PH 2.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						CTGCGGTCATCCATGGTGAAC	0.637000														23			15		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10247785	10247785	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10247785G>A	uc002mng.3	-	35	4597	c.4417C>T	c.(4417-4419)Cgt>Tgt	p.R1473C	DNMT1_uc002mnf.3_Missense_Mutation_p.R397C|DNMT1_uc010xlc.2_Missense_Mutation_p.R1489C|DNMT1_uc002mnh.3_Missense_Mutation_p.R1368C|DNMT1_uc010xld.2_Missense_Mutation_p.R1473C	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1473	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CAGACCCCACGGAGGGCCCCA	0.647000														10			7		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43048468	43048468	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43048468G>A	uc002xma.3	+	6	933	c.844G>A	c.(844-846)Gat>Aat	p.D282N	HNF4A_uc002xlt.3_Missense_Mutation_p.D260N|HNF4A_uc002xlu.3_Missense_Mutation_p.D260N|HNF4A_uc002xlv.3_Missense_Mutation_p.D260N|HNF4A_uc002xly.3_Missense_Mutation_p.D282N|HNF4A_uc010ggq.3_Missense_Mutation_p.D275N|HNF4A_uc002xlz.3_Missense_Mutation_p.D282N	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	282					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.I281I(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCTGCAGATCGATGACAATGA	0.567000														84			28		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62442615	62442615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:62442615C>T	uc003peg.2	-	6	1112	c.865G>A	c.(865-867)Gat>Aat	p.D289N		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.D289N(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TAGCTGTTATCATAAGTCTCA	0.378000														90			29		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3267076	3267076	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:3267076C>T	uc022aqr.1	-	12	2003	c.1613G>A	c.(1612-1614)cGg>cAg	p.R538Q	CSMD1_uc011kwj.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	539	Sushi 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGCCCGTCCGCTTCCCATA	0.493000														15			3		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6081974	6081974	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:6081974C>T	uc010idb.1	-	6	1653	c.1167G>A	c.(1165-1167)acG>acA	p.T389T	JAKMIP1_uc010idc.1_Silent_p.T224T|JAKMIP1_uc010idd.1_Silent_p.T389T|JAKMIP1_uc003giu.4_Silent_p.T389T|JAKMIP1_uc011bwc.2_Silent_p.T224T|JAKMIP1_uc003giv.4_Silent_p.T389T|JAKMIP1_uc010ide.3_Silent_p.T389T	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	389	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTCATCCCTCGTCAGGCTGA	0.582000														40			12		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30510707	30510708	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30510707_30510708GG>AA	uc002dyi.4	+	16	2218_2219	c.2042_2043GG>AA	c.(2041-2043)cgg>cAA	p.R681Q	ITGAL_uc002dyj.4_Missense_Mutation_p.R598Q|ITGAL_uc010vev.2_Missense_Mutation_p.R77Q	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	681					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	p.R681Q(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GATGGCCACCGGACCAGAAGAC	0.545000														164			13		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196928210	196928210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:196928210G>A	uc001gtq.1	+	4	890	c.813G>A	c.(811-813)taG>taA	p.*271*	CFHR2_uc001gtr.1_Silent_p.*147*	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	0						extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AAGAAAAATAGAATCAATGGC	0.284000														59			14		0	0	1	0	0
RAB40AL	282808	broad.mit.edu	37	X	102193023	102193023	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:102193023C>T	uc004ejs.3	+	0	824	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN	Homo sapiens RAB40A, member RAS oncogene family-like (RAB40AL), mRNA.	259					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						AAGTGAAGATCGTCTGCCCAC	0.537000														39			47		0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	136030652	136030652	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:136030652G>A	uc004ccw.3	-	5	553	c.272C>T	c.(271-273)tCc>tTc	p.S91F	RALGDS_uc011mcw.2_Silent_p.L103L|RALGDS_uc010nab.3_Silent_p.L103L|RALGDS_uc011mcx.2_Missense_Mutation_p.S74F|RALGDS_uc010nac.1_5'UTR|RALGDS_uc004ccy.1_Missense_Mutation_p.S91F	NM_021996	NP_068836	Q12967	GNDS_HUMAN	Homo sapiens globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (GBGT1), mRNA.	360					Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGTTCCCTCGGAGACGATGGG	0.617000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									26			10		0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27448833	27448833	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:27448833G>A	uc002dor.2	+	4	791	c.243G>A	c.(241-243)aaG>aaA	p.K81K	IL21R_uc002doq.2_Silent_p.K59K|IL21R_uc002dos.2_Silent_p.K59K	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	59					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.C81Y(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AAGAGCTGAAGGACGAGGCCA	0.612000			T	BCL6	NHL									55			20		0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628377	173628377	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:173628377G>A	uc001gja.1	-	1	242	c.181C>T	c.(181-183)Cct>Tct	p.P61S	ANKRD45_uc001gjb.4_Missense_Mutation_p.P61S	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	77										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TCATGATGAGGATTCTCAGGA	0.473000														50			24		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226491723	226491723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:226491723C>T	uc002voe.2	+	4	1884	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	NYAP2_uc010fxa.1_Silent_p.F99F|NYAP2_uc002vof.1_Missense_Mutation_p.S340F	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	570																	GGGGCGTCTTCCTCCAGAGAG	0.527000														12			5		0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86126188	86126188	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:86126188C>T	uc001pbx.2	+	12	1952	c.1524C>T	c.(1522-1524)ccC>ccT	p.P508P	CCDC81_uc001pbw.2_Silent_p.P418P|CCDC81_uc010rtq.2_Silent_p.P291P|CCDC81_uc001pby.2_Silent_p.P243P	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	508										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CCTCTGAGCCCATCTTTGGTA	0.458000														81			21		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227922301	227922301	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:227922301G>A	uc021vxr.1	-	27	2500	c.2399C>T	c.(2398-2400)cCt>cTt	p.P800L	COL4A4_uc021vxs.1_Missense_Mutation_p.P800L	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	800	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TAGGAATCCAGGAATGCCAGC	0.478000														31			11		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39001159	39001159	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39001159G>A	uc002oit.3	+	58	9084	c.8954G>A	c.(8953-8955)cGa>cAa	p.R2985Q	RYR1_uc002oiu.3_Missense_Mutation_p.R2985Q|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2985					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2985L(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGCAGTGGGCGAGTGGAAAAG	0.562000														106			20		0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98666301	98666301	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:98666301C>T	uc001vne.3	+	21	2392	c.2212C>T	c.(2212-2214)Cga>Tga	p.R738*		NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	720					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity	p.R738L(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GAAACGTGTTCGAGTGGCAGC	0.433000														120			38		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109707915	109707915	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:109707915C>T	uc010agk.2	+	26	3929	c.3307C>T	c.(3307-3309)Cgc>Tgc	p.R1103C	MYO16_uc001vqt.1_Missense_Mutation_p.R1081C|MYO16_uc001vqu.1_Missense_Mutation_p.R881C|MYO16_uc010tjh.1_Missense_Mutation_p.R593C	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1081	Myosin head-like 2.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATACCCTGTTCGCCTTTCCTT	0.433000														132			29		0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50528136	50528136	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:50528136G>A	uc001zxw.3	+	9	1938	c.1706G>A	c.(1705-1707)gGa>gAa	p.G569E	SLC27A2_uc010bes.3_Missense_Mutation_p.G516E|SLC27A2_uc001zxx.3_Missense_Mutation_p.G334E	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	569					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GAGATCACTGGAACTTTTAAA	0.428000														149			17		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291974	33291974	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:33291974G>A	uc001wrq.3	+	12	5125	c.4955G>A	c.(4954-4956)cGa>cAa	p.R1652Q		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1652	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAGATAAAACGAAGTGTTTCT	0.423000														60			20		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46930133	46930133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:46930133G>A	uc003bhw.1	-	0	2935	c.2935C>T	c.(2935-2937)Ctt>Ttt	p.L979F		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	979	Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAGGCGCTAAGGGGAGTGGGA	0.567000														100			17		0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75439890	75439890	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:75439890C>T	uc010rru.2	+	4	706	c.706C>T	c.(706-708)Ccc>Tcc	p.P236S	MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.2_Missense_Mutation_p.P154S	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	236					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TGACCAGATTCCCAACTCTTC	0.532000														93			46		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144918897	144918897	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:144918897C>T	uc021ouh.1	-	9	1591	c.1289G>A	c.(1288-1290)cGa>cAa	p.R430Q	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_Missense_Mutation_p.R430Q|PDE4DIP_uc001elx.4_Missense_Mutation_p.R496Q|PDE4DIP_uc001emd.2_Missense_Mutation_p.R430Q|PDE4DIP_uc001emc.2_Missense_Mutation_p.R430Q|PDE4DIP_uc001emb.1_Missense_Mutation_p.R593Q|PDE4DIP_uc001eme.1_5'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	430					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)		TTCCTGGGTTCGAATCTCATT	0.438000			T	PDGFRB	MPD									750			92		0	0	1	0	0
ACTR3	10096	broad.mit.edu	37	2	114670797	114670797	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:114670797C>T	uc002tkx.1	+	1	413	c.93C>T	c.(91-93)atC>atT	p.I31I	ACTR3_uc010yyc.1_Missense_Mutation_p.S11F|ACTR3_uc010yyd.1_5'UTR	NM_005721	NP_005712	P61158	ARP3_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog (yeast) (ACTR3), mRNA.	31					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	ATP binding|actin binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						AGTTTATCATCCCTTCCTGTA	0.294000														71			24		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179554594	179554594	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179554594C>T	uc021vsy.1	-	118	28285	c.28060G>A	c.(28060-28062)Gaa>Aaa	p.E9354K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6015K|TTN_uc010fre.1_Missense_Mutation_p.E465K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10281	Ig-like 76.						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)			ATCTTTTCTTCAGGGACAGGT	0.403000														218			75		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647777	51647777	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51647777C>T	uc002pvv.1	+	1	617	c.548C>T	c.(547-549)tCc>tTc	p.S183F	SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	183	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.S183C(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CCTATGATCTCCTGGATGGGG	0.652000														150			58		0	0	1	0	0
TCRAVN1	0	broad.mit.edu	37	14	22580921	22580921	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22580921G>A	uc010ajh.1	+	1	340	c.264G>A	c.(262-264)aaG>aaA	p.K88K	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					Homo sapiens mRNA for T cell receptor alpha variable 25, partial cds, clone: SEB 340.																		AAGCAAAAAAGAACAGCTCCC	0.483000														20			12		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40853444	40853444	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:40853444C>T	uc003jmg.3	+	2	2085	c.2010C>T	c.(2008-2010)tcC>tcT	p.S670S		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	670					apoptosis|regulation of apoptosis	intracellular		p.S670S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TTCAAGTTTCCTCTGGAGAAA	0.493000														131			53		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237538048	237538048	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:237538048C>T	uc001hyl.1	+	6	536	c.416C>T	c.(415-417)tCa>tTa	p.S139L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	139	MIR 1.				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)			TCCCGGTCTTCAACTGATAAG	0.478000														10			6		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64225436	64225436	+	Missense_Mutation	SNP	C	T	T	rs149659675	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:64225436C>T	uc002jfn.4	-	0	121	c.62G>A	c.(61-63)cGg>cAg	p.R21Q		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	21	Sushi 1.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GTACTTACTCCGTCCTGCAAT	0.418000														34			8		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18021541	18021541	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:18021541C>T	uc010gqw.1	+	13	1826	c.1826C>T	c.(1825-1827)cCa>cTa	p.P609L	CECR2_uc010gqv.1_Missense_Mutation_p.P470L|CECR2_uc002zml.2_Missense_Mutation_p.P470L	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	653					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCAGCAGTACCAGGAACATTT	0.542000														38			24		0	0	1	0	0
JKAMP	51528	broad.mit.edu	37	14	59970692	59970692	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:59970692C>T	uc001xei.4	+	6	1382	c.880C>T	c.(880-882)Ctt>Ttt	p.L294F	JKAMP_uc001xef.4_Missense_Mutation_p.L280F|JKAMP_uc001xeh.4_Missense_Mutation_p.L274F|JKAMP_uc001xeg.4_Missense_Mutation_p.L288F|JKAMP_uc010try.2_Missense_Mutation_p.L217F|JKAMP_uc001xej.4_Missense_Mutation_p.L217F	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	Homo sapiens JNK1/MAPK8-associated membrane protein (JKAMP), transcript variant 2, mRNA.	295					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						AGATTTGCCCCTTTTGGCTTT	0.418000														78			36		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584053	179584053	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179584053C>T	uc021vsy.1	-	79	20557	c.20332G>A	c.(20332-20334)Gga>Aga	p.G6778R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3439R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7705	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTCATTTCCATCCTGAAAC	0.512000														123			61		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39008129	39008129	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39008129C>T	uc002oit.3	+	65	9946	c.9816C>T	c.(9814-9816)atC>atT	p.I3272I	RYR1_uc002oiu.3_Silent_p.I3272I|RYR1_uc002oiv.1_Silent_p.I192I|RYR1_uc010xuf.1_Silent_p.I192I	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3272					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCATCGAGATCACGCTGCCCA	0.697000														33			23		0	0	1	0	0
CHRM1	1128	broad.mit.edu	37	11	62677518	62677518	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62677518C>T	uc021qko.1	-	0	1055	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q	CHRM1_uc001nwi.3_Missense_Mutation_p.R352Q	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	352					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	GAAGGTCTTCCGCTTGGCCAG	0.597000														30			11		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596407	24596407	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:24596407C>T	uc011djo.2	-	2	995	c.495G>A	c.(493-495)aaG>aaA	p.K165K	KIAA0319_uc011djp.2_Silent_p.K120K|KIAA0319_uc003neh.1_Silent_p.K165K|KIAA0319_uc011djq.1_Silent_p.K156K|KIAA0319_uc011djr.1_Silent_p.K165K	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	165					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GCAAGAGGTCCTTCTCCAGCT	0.577000														52			22		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220355492	220355492	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220355492G>A	uc010fwg.3	+	37	9199	c.9199G>A	c.(9199-9201)Gtg>Atg	p.V3067M		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	3067	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CACTTACATGGTGCAGCTGCT	0.602000														79			26		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77455135	77455135	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77455135C>T	uc004ajl.1	-	4	587	c.349G>A	c.(349-351)Gat>Aat	p.D117N	TRPM6_uc004ajk.1_Missense_Mutation_p.D112N|TRPM6_uc022bib.1_Missense_Mutation_p.D112N|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.D117N|TRPM6_uc010mpd.1_Missense_Mutation_p.D117N|TRPM6_uc010mpe.1_Missense_Mutation_p.D117N|TRPM6_uc004ajn.1_Missense_Mutation_p.D117N	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	117					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGTTTTGTATCATAAGAAGTT	0.403000														26			15		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802836	27802836	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27802836C>T	uc002rkz.4	+	0	3448	c.3397C>T	c.(3397-3399)Cat>Tat	p.H1133Y		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1133										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACTTAATTGCCATCATAAATT	0.493000														151			69		0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17789545	17789545	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:17789545G>A	uc003zna.3	+	5	909	c.621G>A	c.(619-621)atG>atA	p.M207I	SH3GL2_uc011lmx.1_Missense_Mutation_p.M172I|SH3GL2_uc011lmy.2_Missense_Mutation_p.M160I	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	207	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TCTTGGAGATGGATGTAAGTG	0.373000														72			11		0	0	1	0	0
GNB3	2784	broad.mit.edu	37	12	6952194	6952194	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6952194G>A	uc001qrd.3	+	4	562	c.157G>A	c.(157-159)Gga>Aga	p.G53R	GNB3_uc001qrc.3_Missense_Mutation_p.G9R|GNB3_uc009zfe.3_Missense_Mutation_p.G53R	NM_002075	NP_002066	P16520	GBB3_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 3 (GNB3), mRNA.	53					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GACGTTAAGGGGACACCTGGC	0.602000														42			12		0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	938749	938749	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:938749C>T	uc003sjo.4	-	9	1210	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E	ADAP1_uc003sjm.4_Silent_p.E165E|ADAP1_uc011jvs.2_Silent_p.E244E|ADAP1_uc003sjn.4_Silent_p.E267E|ADAP1_uc010ksc.3_Silent_p.E267E	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	339	PH 2.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						CGGACTCCGTCTCGCAGGCAA	0.687000														59			17		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11718523	11718523	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:11718523G>A	uc002rbk.1	+	5	1038	c.738G>A	c.(736-738)acG>acA	p.T246T	GREB1_uc002rbl.3_Silent_p.T246T|GREB1_uc002rbm.3_Silent_p.T136T|GREB1_uc002rbn.1_Silent_p.T246T	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	246						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTCCTGGGACGAACCCCAGCA	0.617000														79			28		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179408973	179408973	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179408973C>T	uc021vsy.1	-	293	88504	c.88279G>A	c.(88279-88281)Gaa>Aaa	p.E29427K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E23122K|TTN_uc021vta.1_Missense_Mutation_p.E23055K|TTN_uc021vtb.1_Missense_Mutation_p.E22930K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30354	Fibronectin type-III 114.						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)			TCGCTGTATTCGCTCATACCC	0.408000														52			27		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81181868	81181868	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:81181868G>A	uc002bfw.1	+	8	1281	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	KIAA1199_uc010unn.1_Missense_Mutation_p.E341K	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	341										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TAAAGGTGGGGAGAAAATTTC	0.428000														79			56		0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158663943	158663943	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:158663943C>T	uc003woe.4	+	2	338	c.180C>T	c.(178-180)ccC>ccT	p.P60P		NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	60										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GCAGGGATCCCGACCAGGATG	0.567000														13			11		0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4348328	4348328	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:4348328C>T	uc002fxt.3	+	3	310	c.266_splice	c.e3-1	p.V89_splice	SPNS3_uc002fxu.3_Intron	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	89					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTCCTTCAGTCTTCGTTAGCT	0.612000														160			67		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24448182	24448182	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:24448182G>A	uc003ned.1	-	16	1712	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	GPLD1_uc010jpr.1_Missense_Mutation_p.S371F|GPLD1_uc010jps.1_Missense_Mutation_p.S534F	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	534				VIGS -> MLGT (in Ref. 6; AA sequence).		extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TGCAAAAGGGGAGCCGATGAC	0.532000														55			16		0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654819	31654819	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:31654819G>A	uc002ynv.3	-	0	458	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	144						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						CGTTGCGGAGGGTTTGGCAGG	0.498000														122			36		0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905667	15905667	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15905667A>T	uc010xos.2	+	0	809	c.809A>T	c.(808-810)gAa>gTa	p.E270V		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P269P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CAGTCTCCGGAAGGAGACACC	0.567000														53			30		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43708284	43708284	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43708284G>A	uc002ovy.3	-	1	286	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	PSG4_uc002ovz.3_Missense_Mutation_p.L62F|PSG4_uc002owb.3_Missense_Mutation_p.L62F	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	62	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TAGCCAGCAAGATTCTGGGGC	0.448000														364			29		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54793667	54793667	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54793667G>A	uc001sga.3	-	25	2776	c.2708C>T	c.(2707-2709)tCc>tTc	p.S903F		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	903					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGGTCCCGAGGAAGCAGAGCT	0.552000											OREG0021897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		120			40		0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14706316	14706316	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:14706316G>A	uc001rcc.1	-	1	307	c.146C>T	c.(145-147)cCt>cTt	p.P49L		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	49					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						CTTTTCAGCAGGCATCCAGTA	0.408000														90			19		0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111311669	111311669	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:111311669C>T	uc001trv.1	+	4	588	c.393C>T	c.(391-393)atC>atT	p.I131I	CCDC63_uc009zvt.1_Silent_p.I46I|CCDC63_uc010sye.1_Silent_p.I91I|CCDC63_uc001trw.1_Silent_p.I46I	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	131										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AAAAAAAAATCGCAAACCAAA	0.403000														64			30		0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116064542	116064542	+	Missense_Mutation	SNP	G	A	A	rs148589522		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:116064542G>A	uc001lbn.3	-	10	1521	c.1220C>T	c.(1219-1221)cCc>cTc	p.P407L	AFAP1L2_uc001lbo.3_Missense_Mutation_p.P407L|AFAP1L2_uc010qse.2_Missense_Mutation_p.P460L|AFAP1L2_uc001lbp.3_Missense_Mutation_p.P435L|AFAP1L2_uc001lbr.1_Missense_Mutation_p.P407L|AFAP1L2_uc010qsd.2_5'UTR|AFAP1L2_uc001lbq.1_5'Flank	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	407	PH 2.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GTCGGGGCTGGGGTCTGGGAC	0.667000														62			7		0	0	1	0	0
TSC22D1	8848	broad.mit.edu	37	13	45149450	45149450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:45149450G>A	uc001uzn.4	-	0	1252	c.761C>T	c.(760-762)cCc>cTc	p.P254L	TSC22D1_uc001uzo.2_Missense_Mutation_p.P254L|TSC22D1-AS1_uc021rjb.1_5'Flank	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	254					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGGGCTTGAGGGTGGCCCACC	0.507000														48			23		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128628034	128628034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:128628034G>A	uc010sbu.2	+	1	386	c.43G>A	c.(43-45)Gac>Aac	p.D15N	FLI1_uc010sbt.2_5'UTR|FLI1_uc010sbv.2_5'UTR|FLI1_uc009zci.3_5'UTR|FLI1_uc001qen.3_5'UTR	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	15					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GGTGAGCGACGACCAGTCCCT	0.602000			T	EWSR1	Ewing sarcoma									12			3		0	0	1	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65157266	65157267	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65157266_65157267CC>TT	uc002anv.3	+	5	786_787	c.652_653CC>TT	c.(652-654)cct>TTt	p.P218F	PLEKHO2_uc002anw.3_Missense_Mutation_p.P168F	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 2 (PLEKHO2), transcript variant 1, mRNA.	218	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GACCACCAGCCCTGGTGACAGG	0.624000														176			21		0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131918	82131918	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:82131918G>A	uc002fgv.3	+	4	1213	c.1041G>A	c.(1039-1041)tgG>tgA	p.W347*		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	347					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	CTTACTTGTGGATCTGCCTTG	0.493000														92			40		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3116432	3116432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:3116432C>T	uc002klp.3	-	20	3534	c.3200G>A	c.(3199-3201)cGg>cAg	p.R1067Q	MYOM1_uc002klq.3_Missense_Mutation_p.R971Q	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1067	Fibronectin type-III 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GACCGGAGTCCGCCCGGAGTG	0.552000														21			10		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73554625	73554625	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73554625C>T	uc002joh.3	+	4	442	c.288C>T	c.(286-288)agC>agT	p.S96S	LLGL2_uc002jog.1_Silent_p.S96S|LLGL2_uc010dgf.1_Silent_p.S96S|LLGL2_uc002joi.3_Silent_p.S96S|LLGL2_uc010dgg.2_Silent_p.S96S|LLGL2_uc002joj.3_Silent_p.S85S	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	96					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ATGACAACAGCCTGCACCTTT	0.622000														14			12		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197102708	197102708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197102708G>A	uc001gtu.3	-	5	2448	c.2191C>T	c.(2191-2193)Ctt>Ttt	p.L731F	ASPM_uc001gtv.3_Missense_Mutation_p.L731F|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	731					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTCCCAAAAGAAGAGTAGCA	0.338000														44			12		0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088760	57088760	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57088760C>T	uc002qnl.4	+	5	1639	c.963C>T	c.(961-963)ttC>ttT	p.F321F	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATAAAGCATTCAGCCAGCTTG	0.448000														51			27		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181708304	181708304	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181708304C>T	uc009wxt.3	+	24	3829	c.3634C>T	c.(3634-3636)Ctg>Ttg	p.L1212L	CACNA1E_uc001gow.3_Silent_p.L1212L|CACNA1E_uc009wxs.3_Silent_p.L1193L|CACNA1E_uc001gox.1_Silent_p.L438L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1212					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						AGGCTTGATCCTGCAGGATGG	0.512000														130			46		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140735225	140735225	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140735225C>T	uc003ljq.2	+	0	458	c.458C>T	c.(457-459)cCt>cTt	p.P153L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.P153L	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	153	Cadherin 2.				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)			GCAAGATTTCCTCTTCCTGAA	0.458000														35			7		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40648100	40648100	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:40648100G>A	uc002yxk.2	-	12	1440	c.1145_splice	c.e12+1	p.R382_splice	BRWD1_uc021wjf.1_Splice_Site_p.R382_splice|BRWD1_uc010goe.1_Splice_Site|BRWD1_uc010gof.1_Splice_Site|BRWD1_uc010gog.1_Splice_Site|BRWD1_uc010goh.1_Splice_Site|BRWD1_uc010goi.1_Splice_Site_p.R102_splice	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CACACTTACCGATCACCATTG	0.328000														97			39		0	0	1	0	0
ARRDC4	91947	broad.mit.edu	37	15	98513881	98513881	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:98513881C>T	uc010bom.3	+	6	1267	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	ARRDC4_uc002bui.4_Missense_Mutation_p.P283S	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA.	370					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TCCTCCTTACCCTCAACCCCC	0.438000														69			70		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113679953	113679953	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113679953G>A	uc001poh.3	-	16	2029	c.1996C>T	c.(1996-1998)Caa>Taa	p.Q666*	USP28_uc001pog.3_Nonsense_Mutation_p.Q374*|USP28_uc010rwy.2_Nonsense_Mutation_p.Q541*|USP28_uc001poi.3_Nonsense_Mutation_p.Q21*	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	666					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCTGACATTTGATCTGATTCA	0.438000														311			124		0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671842	45671842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:45671842G>A	uc021qgn.1	-	0	632	c.632C>T	c.(631-633)cCc>cTc	p.P211L	CHST1_uc001mys.2_Missense_Mutation_p.P211L	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	211					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GTTCACCTCGGGCACGCGCAC	0.682000														23			27		0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89537460	89537460	+	Missense_Mutation	SNP	C	T	T	rs141552770		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:89537460C>T	uc001pdb.3	-	2	507	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	60						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTATCTGCTCGGTTGACTTT	0.463000														97			25		0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99917296	99917296	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:99917296G>A	uc004egb.3	+	3	767	c.287G>A	c.(286-288)cGa>cAa	p.R96Q		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	96	Sushi 1.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CGGGGCTTTCGATTGATTGGA	0.537000														79			18		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169819815	169819815	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169819815G>A	uc011cjx.2	+	13	2633	c.2422G>A	c.(2422-2424)Gga>Aga	p.G808R	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Missense_Mutation_p.G791R|PALLD_uc003irv.3_Missense_Mutation_p.G409R|PALLD_uc003irw.3_Missense_Mutation_p.G304R|PALLD_uc003irx.3_Missense_Mutation_p.G17R	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	1015	Interaction with ARGBP2, SPIN90, SRC and PFN1.|Interaction with EPS8 (By similarity).|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GATCTTTGAGGGAATGCCAGT	0.433000									Pancreatic Cancer, Familial Clustering of					75			19		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94028396	94028396	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94028396G>A	uc003ung.1	+	4	603	c.132_splice	c.e4+1	p.R44_splice	COL1A2_uc011kib.1_Splice_Site_p.R44_splice	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	44					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)	GTGGAGAAAGGGTGTGTAATT	0.373000										HNSCC(75;0.22)				100			40		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71015363	71015363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71015363C>T	uc002ezr.3	-	28	4589	c.4438G>A	c.(4438-4440)Gaa>Aaa	p.E1480K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1481										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)				GTGATATTTTCTGGGTCCAGG	0.478000														67			29		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25819833	25819833	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:25819833G>A	uc003gru.4	-	8	1643	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	497						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCTCCCAGGGGAAGGCTCTGC	0.552000														9			4		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18458484	18458484	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:18458484G>A	uc003cbh.3	-	2	2033	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	SATB1_uc003cbi.3_Silent_p.L100L|SATB1_uc003cbj.3_Silent_p.L100L	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	100	PDZ-like dimerization domain.				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						TTTCTCACCAGCACAAATTCT	0.428000														127			49		0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28607230	28607230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:28607230C>T	uc001bps.3	+	9	1756	c.1360C>T	c.(1360-1362)Cac>Tac	p.H454Y		NM_031459	NP_113647	P58004	SESN2_HUMAN	Homo sapiens sestrin 2 (SESN2), mRNA.	454					cell cycle arrest	cytoplasm|nucleus		p.H454H(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCAGGTCCACGTGAACTT	0.612000														66			13		0	0	1	0	0
TCRBV12S3	0	broad.mit.edu	37	7	142206725	142206725	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142206725G>A	uc003vyj.2	-	1	177	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CTCCAAGTCTGGTGACACATC	0.483000														94			50		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128341841	128341841	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:128341841G>A	uc002top.3	+	12	1541	c.1488G>A	c.(1486-1488)ctG>ctA	p.L496L		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	496	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGCCCACCCTGGACCTGCTGG	0.587000														60			16		0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55280655	55280655	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55280655C>T	uc001cyb.4	+	7	1047	c.993C>T	c.(991-993)ttC>ttT	p.F331F	C1orf177_uc001cya.4_Silent_p.F331F	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	331										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AGCCCCCATTCCTGTTGACCT	0.542000														115			50		0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24440779	24440779	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:24440779G>A	uc002kwa.3	-	3	713	c.650C>T	c.(649-651)tCc>tTc	p.S217F	AQP4_uc002kvz.3_Missense_Mutation_p.S195F	NM_001650	NP_001641	P55087	AQP4_HUMAN	Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA.	217					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AGGTCCAAAGGATCGGGCGGG	0.433000														197			11		0	0	1	0	0
MRPL44	65080	broad.mit.edu	37	2	224824592	224824592	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:224824592C>T	uc002vnr.4	+	1	590	c.521C>T	c.(520-522)gCt>gTt	p.A174V		NM_022915	NP_075066	Q9H9J2	RM44_HUMAN	Homo sapiens mitochondrial ribosomal protein L44 (MRPL44), nuclear gene encoding mitochondrial protein, mRNA.	174	RNase III.				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGAAACTTGGCTGTGGAGCAG	0.483000														112			28		0	0	1	0	0
DDX20	11218	broad.mit.edu	37	1	112305305	112305305	+	Missense_Mutation	SNP	C	T	T	rs61755354		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:112305305C>T	uc001ebs.3	+	8	1468	c.1111C>T	c.(1111-1113)Cgt>Tgt	p.R371C	DDX20_uc010owf.2_Missense_Mutation_p.R133C|DDX20_uc001ebt.3_5'UTR	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA.	371	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAGACTTCTCGTGGGATTGA	0.403000														125			17		0	0	1	0	0
PSMC3	5702	broad.mit.edu	37	11	47447451	47447451	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:47447451G>A	uc001nfh.2	-	1	320	c.126C>T	c.(124-126)atC>atT	p.I42I		NM_002804	NP_002795	P17980	PRS6A_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA.	42					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTGTGCGCTGGATGATCTCCT	0.532000														69			27		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4808358	4808358	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:4808358G>A	uc003bqc.3	+	43	5994	c.5644G>A	c.(5644-5646)Gat>Aat	p.D1882N	ITPR1_uc021wsi.1_Missense_Mutation_p.D1849N|ITPR1_uc021wsj.1_Missense_Mutation_p.D1834N|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1897					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AAAGAAAGACGATGAGGTAGA	0.438000														37			21		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43214429	43214429	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43214429G>A	uc003ouq.1	+	1	310	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	11						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCTTAAGGACGAAACCAACAT	0.667000														40			12		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107048762	107048762	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:107048762G>A	uc021ser.1	-	169		c.7268C>T								Parts of antibodies, mostly variable regions.																		TGGAGATGGTGAATCGGCCCT	0.542000														393			52		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508298	106508298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:106508298C>T	uc003vdv.4	+	1	377	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L	PIK3CG_uc003vdu.3_Silent_p.L98L|PIK3CG_uc003vdw.3_Silent_p.L98L	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	98					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCACTTCCTCCTGCTCTATCA	0.627000														30			9		0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63257495	63257495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:63257495G>A	uc011cqt.2	-	0	52	c.52C>T	c.(52-54)Ccc>Tcc	p.P18S		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	18					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GTCTCAAAGGGAGCCGGTGGT	0.622000														67			21		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48729266	48729266	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:48729266C>T	uc001zwx.2	-	52	6783	c.6388G>A	c.(6388-6390)Gaa>Aaa	p.E2130K	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2130	EGF-like 36; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCTTTGCATTCGTCCATATCT	0.343000														53			16		0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043645	71043645	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71043645C>T	uc002shf.3	-	3	945	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	CLEC4F_uc010yqv.1_Missense_Mutation_p.E290K	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	290					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGCAAATTTTCCTTTAGTCCC	0.418000														157			55		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013055	99013055	+	Silent	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:99013055G>C	uc010fij.3	+	7	1575	c.1434G>C	c.(1432-1434)ctG>ctC	p.L478L	CNGA3_uc002syt.3_Silent_p.L474L|CNGA3_uc002syu.3_Silent_p.L456L			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	474					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ACGTGCACCTGGACACGCTGA	0.577000														21			5		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115341664	115341664	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115341664G>A	uc001lai.4	+	8	971	c.868G>A	c.(868-870)Gag>Aag	p.E290K	HABP2_uc021pyr.1_Missense_Mutation_p.E264K|HABP2_uc010qrz.1_Intron	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	290					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AAGCCCCACTGAGCCATCAAC	0.527000														162			58		0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83456109	83456109	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83456109C>T	uc002bjd.2	-	1	201	c.34G>A	c.(34-36)Gac>Aac	p.D12N	FSD2_uc010uol.1_Missense_Mutation_p.D12N|FSD2_uc010uom.1_Missense_Mutation_p.D12N	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	12										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GTAGACCTGTCCAGCCCCAGT	0.468000														63			64		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11216169	11216169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11216169C>T	uc002mqk.4	+	3	774	c.587C>T	c.(586-588)cCc>cTc	p.P196L	LDLR_uc010xlk.2_Missense_Mutation_p.P196L|LDLR_uc010xll.2_Missense_Mutation_p.P155L|LDLR_uc021upc.1_Missense_Mutation_p.P75L|LDLR_uc010xln.2_Intron|LDLR_uc010xlo.2_Intron|LDLR_uc010xlm.2_Missense_Mutation_p.P49L|LDLR_uc021upd.1_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	196	LDL-receptor class A 5.				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.?(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)	GACAGTAGCCCCTGCTCGGCC	0.617000														50			26		0	0	1	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315552	73315552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:73315552C>T	uc002siu.4	-	2	1435	c.1194G>A	c.(1192-1194)gaG>gaA	p.E398E	RAB11FIP5_uc002sit.4_Silent_p.E320E	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	398					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CAAGCACTGCCTCTGAGCTGC	0.647000														75			18		0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75408264	75408264	+	Silent	SNP	C	T	T	rs71471632		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:75408264C>T	uc001jut.4	-	3	1298	c.1146G>A	c.(1144-1146)gaG>gaA	p.E382E	SYNPO2L_uc001jus.4_Silent_p.E158E	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	382						cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCCCAGAGACCTCACTCAGCT	0.637000														74			26		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2057320	2057320	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2057320G>A	uc003wpx.4	+	24	3316	c.3178G>A	c.(3178-3180)Gag>Aag	p.E1060K	MYOM2_uc011kwi.2_Missense_Mutation_p.E485K	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1060					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTCTGACAGCGAGGTGAGTTC	0.473000														42			16		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9337875	9337875	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:9337875G>A	uc003jek.2	-	3	886	c.174C>T	c.(172-174)ttC>ttT	p.F58F		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	58	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TTAACTGCGAGAAATCCACAG	0.343000														93			26		0	0	1	0	0
MIOX	55586	broad.mit.edu	37	22	50927994	50927995	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50927994_50927995CC>TT	uc003bll.1	+	8	784_785	c.670_671CC>TT	c.(670-672)ccc>TTc	p.P224F	MIOX_uc003blm.1_Missense_Mutation_p.P224F|MIOX_uc003bln.1_Intron	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	Homo sapiens myo-inositol oxygenase (MIOX), mRNA.	224					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCCTTCTACCCCTGGCACACG	0.678000														29			16		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20576124	20576124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20576124C>T	uc002dhj.4	-	2	254	c.44G>A	c.(43-45)gGt>gAt	p.G15D	ACSM2B_uc002dhk.4_Missense_Mutation_p.G15D|ACSM2B_uc010bwf.1_Missense_Mutation_p.G15D	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	15					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CATCTGAGTACCCCACAGGGT	0.493000														55			16		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841800	70841800	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:70841800G>A	uc002ezr.3	-	85	15197	c.15046C>T	c.(15046-15048)Ctc>Ttc	p.L5016F	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	5017										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)				ATTCCAAAGAGGGGGATGATA	0.537000														69			31		0	0	1	0	0
LOC285501	285501	broad.mit.edu	37	4	178897018	178897018	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:178897018G>A	uc010iru.3	+	4		c.683G>A								Homo sapiens uncharacterized LOC285501 (LOC285501), non-coding RNA.														all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236)		all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884)		ACGGGAAAGGGGTTGAGCAAG	0.403000														102			41		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26694975	26694976	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26694975_26694976CC>TT	uc003acb.3	+	4	1384_1385	c.1188_1189CC>TT	c.(1186-1191)ccccgc>ccTTgc	p.R397C	SEZ6L_uc003acd.3_Missense_Mutation_p.R397C|SEZ6L_uc011akd.2_Missense_Mutation_p.R397C|SEZ6L_uc003ace.3_Missense_Mutation_p.R397C|SEZ6L_uc011akc.2_Missense_Mutation_p.R397C|SEZ6L_uc003acc.3_Missense_Mutation_p.R397C|SEZ6L_uc003acf.1_Missense_Mutation_p.R170C|SEZ6L_uc010gvc.1_Missense_Mutation_p.R170C	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	397	Sushi 1.					endoplasmic reticulum membrane|integral to membrane		p.R397H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCAACTTTCCCCGCCGGCCTGA	0.584000														49			20		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197446859	197446859	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197446859G>A	uc001gtz.3	+	11	4280	c.4071G>A	c.(4069-4071)ctG>ctA	p.L1357L	CRB1_uc010poz.2_Silent_p.L1333L|CRB1_uc009wza.3_Silent_p.L1245L|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.L821L|CRB1_uc010ppd.2_Silent_p.L838L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1357					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCTTGTTACTGATCCTCTTGC	0.502000														53			10		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693284	94693284	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:94693284G>A	uc011cdt.2	+	15	2917	c.2659G>A	c.(2659-2661)Gat>Aat	p.D887N	GRID2_uc011cdu.2_Missense_Mutation_p.D792N	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	887					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTTGTGCACAGATGACGACAG	0.448000														126			62		0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	946159	946159	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:946159C>T	uc003gbq.3	+	6	481	c.383C>T	c.(382-384)tCg>tTg	p.S128L	TMEM175_uc010ibl.1_Missense_Mutation_p.S128L|TMEM175_uc003gbp.1_Missense_Mutation_p.S46L|TMEM175_uc003gbs.3_Missense_Mutation_p.S11L|TMEM175_uc003gbt.3_Missense_Mutation_p.S11L|TMEM175_uc003gbr.3_Missense_Mutation_p.S46L	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	128						integral to membrane		p.S128L(2)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TAACAGTTTTCGTTAATGGTG	0.562000														140			27		0	0	1	0	0
PAQR5	54852	broad.mit.edu	37	15	69689814	69689814	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:69689814G>A	uc002arz.2	+	6	898	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	PAQR5_uc002asa.2_Missense_Mutation_p.E174K	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN	Homo sapiens progestin and adipoQ receptor family member V (PAQR5), transcript variant 2, mRNA.	174					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						TAGGTTTCTTGAAATCCAGAA	0.502000														88			65		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24923865	24923865	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24923865C>T	uc001ywo.3	+	0	3325	c.2851C>T	c.(2851-2853)Cca>Tca	p.P951S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	951					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)		GTTAACATCACCATATACTGC	0.478000														65			24		0	0	1	0	0
PBLD	64081	broad.mit.edu	37	10	70044033	70044033	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:70044033G>A	uc001jns.1	-	9	971	c.768C>T	c.(766-768)tcC>tcT	p.S256S	PBLD_uc001jnr.1_Silent_p.S223S|PBLD_uc001jnt.1_Silent_p.S256S	NM_022129	NP_071412	P30039	PBLD_HUMAN	Homo sapiens phenazine biosynthesis-like protein domain containing (PBLD), transcript variant 1, mRNA.	256					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTCCTCGGTGGGAACACTGAA	0.413000														68			6		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41323603	41323603	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:41323603C>T	uc001rmm.1	+	6	615	c.502C>T	c.(502-504)Ctt>Ttt	p.L168F	CNTN1_uc009zjy.2_Missense_Mutation_p.L168F|CNTN1_uc001rmn.1_Missense_Mutation_p.L157F|CNTN1_uc001rmo.3_Missense_Mutation_p.L168F	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	168	Ig-like C2-type 2.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CCTAGATGATCTTAGCTATCG	0.338000														49			8		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71092118	71092118	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:71092118C>T	uc001swi.2	-	7	1620	c.1206G>A	c.(1204-1206)atG>atA	p.M402I	PTPRR_uc001swh.2_Missense_Mutation_p.M157I|PTPRR_uc009zrs.3_Missense_Mutation_p.M196I|PTPRR_uc010stq.2_Missense_Mutation_p.M290I|PTPRR_uc010str.1_Missense_Mutation_p.M251I	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	402	Tyrosine-protein phosphatase.				in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CCACAAAGTTCATTGGTATTT	0.338000														56			19		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540249	169540249	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:169540249C>T	uc003fgb.3	+	0	540	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	180										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTGAAGTTTTCCCCCAGGAGC	0.517000														86			34		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86124487	86124487	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:86124487C>T	uc002blv.1	+	6	3358	c.3188C>T	c.(3187-3189)tCt>tTt	p.S1063F	AKAP13_uc002blt.1_Missense_Mutation_p.S1063F|AKAP13_uc002blu.1_Missense_Mutation_p.S1063F|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1063					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGTCAGCCTTCTCCTCTGGAT	0.532000														113			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582503	179582503	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179582503C>T	uc021vsy.1	-	83	21591	c.21366G>A	c.(21364-21366)ctG>ctA	p.L7122L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L3783L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8049	Ig-like 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)			GAACGTCTTTCAGTTTTCTTG	0.418000														26			7		0	0	1	0	0
IL36G	56300	broad.mit.edu	37	2	113736846	113736846	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113736846G>A	uc002tio.1	+	2	173	c.104G>A	c.(103-105)tGg>tAg	p.W35*	IL36G_uc010fkr.1_Intron	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	Homo sapiens interleukin 36, gamma (IL36G), mRNA.	35					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CAGCAAGTGTGGACCCTTCAG	0.448000														59			12		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831429	61831429	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61831429G>A	uc001jky.3	-	36	9548	c.9210C>T	c.(9208-9210)ccC>ccT	p.P3070P	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.	3070					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						ATCCATCAATGGGACTGTGGT	0.468000														139			40		0	0	1	0	0
ART5	116969	broad.mit.edu	37	11	3661201	3661201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:3661201C>T	uc001lyb.1	-	1	851	c.458G>A	c.(457-459)gGa>gAa	p.G153E	ART5_uc001lyc.1_Missense_Mutation_p.G153E|ART5_uc001lyd.3_Missense_Mutation_p.G153E|ART5_uc009yea.3_Missense_Mutation_p.G153E	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	153						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCCCAGGTCCCCTGCTGCA	0.637000														38			26		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126138986	126138986	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:126138986G>A	uc010hsg.1	+	9	1058	c.999G>A	c.(997-999)acG>acA	p.T333T	CCDC37_uc003eiu.1_Silent_p.T332T	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	332								p.T332T(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TTCTGCAGACGATGCGGCTGG	0.647000														28			8		0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124253036	124253036	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124253036G>A	uc010sai.2	-	0	204	c.204C>T	c.(202-204)ttC>ttT	p.F68F	OR8B2_uc001qab.3_Non-coding_Transcript	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		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;0.0277)		AGAGATCAATGAAGGAGAGAT	0.408000														142			51		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29039818	29039818	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29039818G>A	uc002kws.3	+	5	637	c.528G>A	c.(526-528)gtG>gtA	p.V176V		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	176	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACTCACTGGTGATGATACTAA	0.353000														50			17		0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44222779	44222779	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44222779G>A	uc002oxh.3	+	1	216	c.69G>A	c.(67-69)agG>agA	p.R23R	IRGC_uc021uvh.1_Silent_p.R23R	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	23						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCAAGGAAAGGCTGGAGGCCC	0.642000														85			40		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95947690	95947690	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:95947690G>A	uc002suk.3	+	12	1702	c.1569G>A	c.(1567-1569)ggG>ggA	p.G523G	PROM2_uc002suh.2_Silent_p.G523G|PROM2_uc002sui.3_Silent_p.G523G|PROM2_uc002suj.3_Silent_p.G177G|PROM2_uc002sul.3_Silent_p.G49G|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	523						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						ACACCCCAGGGAACCTGCCCC	0.627000														113			8		0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96961310	96961310	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:96961310G>A	uc002svu.3	-	13	1890	c.1758C>T	c.(1756-1758)atC>atT	p.I586I		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	586	Helicase ATP-binding 1.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGGTGCAGACGATGATCTGAG	0.572000														49			18		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84488747	84488747	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:84488747G>A	uc002bjz.4	+	5	772	c.548G>A	c.(547-549)gGa>gAa	p.G183E	ADAMTSL3_uc002bjy.1_Missense_Mutation_p.G183E|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G183E	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	183						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTACTGGATGGAACTCGTTGC	0.532000														69			18		0	0	1	0	0
C1orf141	400757	broad.mit.edu	37	1	67559037	67559037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:67559037G>A	uc001ddl.1	-	6	965	c.854C>T	c.(853-855)tCt>tTt	p.S285F	C1orf141_uc001ddm.1_Missense_Mutation_p.S285F|C1orf141_uc001ddn.1_Non-coding_Transcript	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.	285										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						CGCTTTAAAAGACATAGGGAT	0.333000														107			25		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54959231	54959231	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:54959231G>A	uc003dhl.3	-	1	153	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	7						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CTGGAAAACAGGAGCAGTTCA	0.463000														37			10		0	0	1	0	0
ATG4C	84938	broad.mit.edu	37	1	63282323	63282323	+	Missense_Mutation	SNP	C	T	T	rs146646910		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:63282323C>T	uc001dat.3	+	3	426	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	ATG4C_uc001dau.3_Missense_Mutation_p.R80C	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog C (S. cerevisiae) (ATG4C), transcript variant 2, mRNA.	80					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						AGAAGAATTTCGTAAAGATTT	0.398000														88			8		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179604982	179604982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179604982G>A	uc010pnp.2	+	8	1998	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N	TDRD5_uc021pfm.1_Missense_Mutation_p.D494N|TDRD5_uc001gnf.2_Missense_Mutation_p.D494N|TDRD5_uc021pfn.1_Missense_Mutation_p.D494N|TDRD5_uc001gnh.2_Missense_Mutation_p.D49N	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	494					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.D494D(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CTATAGCAGGGATTCGTCAGA	0.408000														57			30		0	0	1	0	0
ABI3	51225	broad.mit.edu	37	17	47299583	47299583	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:47299583G>A	uc002iop.1	+	6	1431	c.933G>A	c.(931-933)gaG>gaA	p.E311E	ABI3_uc002ioq.1_Silent_p.E305E	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	311	SH3.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CATACTTGGAGAAAGGTACCT	0.592000										HNSCC(55;0.14)				73			27		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532019	50532019	+	Missense_Mutation	SNP	G	A	A	rs141342139	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50532019G>A	uc021pqb.1	+	0	1429	c.1429G>A	c.(1429-1431)Gga>Aga	p.G477R	C10orf71_uc021pqa.1_Missense_Mutation_p.G476R|C10orf71_uc021pqc.1_Missense_Mutation_p.G477R	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	477										endometrium(1)	1						ACAGCTAAACGGATACCAAGA	0.572000														26			7		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74973960	74973960	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:74973960C>T	uc001xqa.3	-	25	4216	c.3829G>A	c.(3829-3831)Gaa>Aaa	p.E1277K		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1277	Cys-rich.|EGF-like 14; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGCTGTTTTCACACTTCCAG	0.592000														87			27		0	0	1	0	0
MAP4K5	11183	broad.mit.edu	37	14	50912805	50912805	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:50912805G>A	uc001wya.3	-	16	1497	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S	MAP4K5_uc001wyb.3_Missense_Mutation_p.P393S|MAP4K5_uc010anv.1_Missense_Mutation_p.P393S|MAP4K5_uc001wyc.1_Missense_Mutation_p.P67S	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 5 (MAP4K5), transcript variant 1, mRNA.	393					activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					ACCTTAGGAGGTAGGGGAGGT	0.284000														35			5		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087296	39087296	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:39087296C>T	uc011aej.1	-	2	217	c.164G>A	c.(163-165)aGg>aAg	p.R55K	KCNJ6_uc002ywo.2_Missense_Mutation_p.R55K	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	55					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CCTCACGTACCTCTGGATTTT	0.522000														121			35		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22061092	22061092	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:22061092G>A	uc001rfh.3	-	8	1394	c.1374C>T	c.(1372-1374)gtC>gtT	p.V458V	ABCC9_uc001rfi.1_Silent_p.V458V	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	458	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGCTGCACCGACCAATGCAC	0.413000														40			21		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41159280	41159280	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41159280C>T	uc003jmk.2	-	11	1970	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	C6_uc003jml.1_Missense_Mutation_p.R587Q	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	587	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				ATTGCATTCTCGGGTTCTCGA	0.493000														95			32		0	0	1	0	0
C8orf80	389643	broad.mit.edu	37	8	27925193	27925193	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:27925193C>T	uc003xgm.4	-	5	692	c.549G>A	c.(547-549)gaG>gaA	p.E183E		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	183						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		ACGCATCTGCCTCTTCTCTGC	0.537000														34			9		0	0	1	0	0
CTSL2	1515	broad.mit.edu	37	9	99800311	99800311	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:99800311G>A	uc010msi.3	-	1	222	c.15C>T	c.(13-15)ctC>ctT	p.L5L	CTSL2_uc004awt.3_Silent_p.L5L|CTSL2_uc004awu.3_5'UTR|CTSL2_uc010msj.2_5'UTR|CTSL2_uc010msk.3_5'UTR	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	5						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				CAGCCAGGACGAGCGAAAGAT	0.418000														68			24		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94722800	94722800	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94722800G>A	uc001ycs.1	+	16	2023	c.1869G>A	c.(1867-1869)atG>atA	p.M623I		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	623						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ATTGTAGAATGAAACTTTGCT	0.333000														25			16		0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241812439	241812439	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241812439G>A	uc002waa.4	+	4	689	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	AGXT_uc010zoi.1_Missense_Mutation_p.G190R	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	190			G -> R (in HP1).		glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	p.G190R(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ATCCCTGGGCGGGACCCCCCT	0.662000														120			14		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54792345	54792345	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:54792345G>A	uc021smr.1	+	18	5123	c.5123G>A	c.(5122-5124)gGa>gAa	p.G1708E	UNC13C_uc021sms.1_Missense_Mutation_p.G1710E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1710	MHD1.				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)		TTCCTTCATGGAGCACTGGGA	0.353000														24			6		0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99153491	99153491	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:99153491G>A	uc001knf.3	-	3	619	c.480C>T	c.(478-480)tcC>tcT	p.S160S	RRP12_uc009xvm.3_5'Flank|RRP12_uc010qou.2_Intron|RRP12_uc009xvn.3_Intron	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	160						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGGACTCCGGGGACTCCACTG	0.527000														60			18		0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102302440	102302440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:102302440C>T	uc001duf.2	-	1	342	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	OLFM3_uc001dug.2_Missense_Mutation_p.E71K|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_5'UTR|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	91						extracellular region		p.D90Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CCTACCTTTTCCAGTAGTTGG	0.448000														101			53		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77431653	77431653	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77431653G>A	uc004ajl.1	-	10	1478	c.1240C>T	c.(1240-1242)Ctg>Ttg	p.L414L	TRPM6_uc004ajk.1_Silent_p.L409L|TRPM6_uc022bib.1_Silent_p.L409L|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.L414L|TRPM6_uc010mpd.1_Silent_p.L414L|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	414					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCCATTGCCAGATTTAATTGC	0.363000														78			24		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35624433	35624433	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:35624433C>A	uc003xjr.2	+	14	2655	c.2327C>A	c.(2326-2328)tCc>tAc	p.S776Y	UNC5D_uc003xjs.2_Missense_Mutation_p.S771Y|UNC5D_uc003xju.2_Missense_Mutation_p.S352Y	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	776					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTCCCGTTCTCCCGCGTGTGG	0.562000														44			9		0.00621372	0.00621678	1	1	0
INHBC	3626	broad.mit.edu	37	12	57828693	57828693	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57828693C>T	uc001snv.1	+	0	151	c.24C>T	c.(22-24)gcC>gcT	p.A8A		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	8					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						TGCTTCTGGCCTTTCTCCTCC	0.602000														39			7		0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15890615	15890615	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15890615G>A	uc002nbo.3	-	0		c.184C>T								Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		ATAGGTCCAGGCCAGGAAGCC	0.627000														46			13		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071520	240071520	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240071520G>A	uc021plc.1	+	0	769	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	CHRM3_uc001hyp.3_Missense_Mutation_p.E257K	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	257					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GATCTATAAGGAAACTGAAAA	0.483000														88			32		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10436605	10436605	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10436605C>T	uc010coi.3	-	20	2566	c.2438G>A	c.(2437-2439)aGa>aAa	p.R813K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R813K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	813	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTATACCTTCTCTCCACCAT	0.433000														61			51		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231373	21231373	+	Silent	SNP	G	A	A	rs149734450		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21231373G>A	uc002red.3	-	25	8495	c.8367C>T	c.(8365-8367)atC>atT	p.I2789I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2789					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGAAGCTGCGATACCTGCTT	0.413000														121			66		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34040696	34040696	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34040696G>A	uc001zhi.3	+	54	8234	c.8164G>A	c.(8164-8166)Gac>Aac	p.D2722N	RYR3_uc010bar.3_Missense_Mutation_p.D2722N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2722	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGCTCCCCTCGACCTCTCAAA	0.517000														17			9		0	0	1	0	0
OLIG3	167826	broad.mit.edu	37	6	137815305	137815305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:137815305C>T	uc003qhp.1	-	0	227	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA.	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AATCAGAATTCATTTTATTAC	0.493000														39			28		0	0	1	0	0
GNA12	2768	broad.mit.edu	37	7	2770902	2770902	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:2770902G>A	uc003smu.3	-	3	1223	c.1059C>T	c.(1057-1059)gcC>gcT	p.A353A	GNA12_uc011jwb.2_Silent_p.A336A|GNA12_uc003smt.3_Silent_p.A294A	NM_007353	NP_031379	Q03113	GNA12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein) alpha 12 (GNA12), mRNA.	353					G-protein signaling, coupled to cAMP nucleotide second messenger|Rho protein signal transduction|platelet activation	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		CGGTGTCGATGGCGGTGGTGA	0.597000														57			26		0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88910219	88910219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:88910219C>T	uc001tav.3	-	4	607	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	KITLG_uc009zsn.3_Intron|KITLG_uc001taw.3_Missense_Mutation_p.E138K|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	138					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						AAGAATTCTTCAGGAGTAAAG	0.343000									Testicular Cancer, Familial Clustering of					68			12		0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17332635	17332635	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:17332635C>T	uc003zmz.2	+	9	1577	c.1551C>T	c.(1549-1551)tcC>tcT	p.S517S	CNTLN_uc003zmy.3_Silent_p.S517S|CNTLN_uc010mio.3_Silent_p.S196S	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	517						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GGTCTTTGTCCCCAAAGAGCT	0.398000														58			31		0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218940025	218940025	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:218940025G>A	uc010fvl.2	+	8	1328	c.810G>A	c.(808-810)ggG>ggA	p.G270G	RUFY4_uc002vgw.3_Silent_p.G97G	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	270							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGCCAGAAGGGAAGGAGCTTC	0.547000														12			4		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183446550	183446550	+	Silent	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183446550C>G	uc003fly.2	+	6	918	c.723C>G	c.(721-723)tcC>tcG	p.S241S		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	241	YEATS.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCCGAGGGTCCCGTAGAGAAC	0.413000														85			10		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35993899	35993899	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:35993899G>A	uc004ddj.3	+	14	2648	c.2582G>A	c.(2581-2583)cGa>cAa	p.R861Q	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	861										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTGAGACCACGAGGCTTCTTC	0.433000														84			54		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165948992	165948992	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:165948992C>T	uc002ucx.3	-	26	5071	c.4579G>A	c.(4579-4581)Gtc>Atc	p.V1527I	SCN3A_uc010zcy.2_Missense_Mutation_p.V10I|SCN3A_uc002ucy.3_Missense_Mutation_p.V1478I|SCN3A_uc002ucz.3_Missense_Mutation_p.V1478I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1527						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATATCAAAGACTTGTCTGGTT	0.383000														46			20		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116548684	116548684	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:116548684T>G	uc002tle.3	+	17	1592	c.1571T>G	c.(1570-1572)aTg>aGg	p.M524R	DPP10_uc002tla.2_Missense_Mutation_p.M520R|DPP10_uc002tlb.2_Missense_Mutation_p.M470R|DPP10_uc002tlc.2_Missense_Mutation_p.M516R|DPP10_uc002tlf.2_Missense_Mutation_p.M513R	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	520					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.M513T(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGCAATTCTATGCTGAAGGAA	0.328000														48			14		0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33195256	33195256	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:33195256C>T	uc003tdn.1	+	3	783	c.270C>T	c.(268-270)acC>acT	p.T90T	BBS9_uc003tdo.1_Silent_p.T90T|BBS9_uc003tdp.1_Silent_p.T90T|BBS9_uc003tdq.1_Silent_p.T90T|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc011kan.1_Silent_p.T90T|BBS9_uc011kao.1_5'Flank	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	90					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TCAGAGGTACCGAAATGCTAC	0.289000									Bardet-Biedl syndrome					32			9		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203708726	203708726	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203708726C>T	uc001gzw.3	+	20	4259	c.3362C>T	c.(3361-3363)cCc>cTc	p.P1121L	ATP2B4_uc001gzv.3_3'UTR|ATP2B4_uc001gzx.3_Missense_Mutation_p.P188L|ATP2B4_uc009xar.3_3'UTR	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	1157					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATTCAGAAACCCTACAACCAA	0.483000														92			33		0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453372	21453372	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21453372C>T	uc001rer.3	-	6	1071	c.820G>A	c.(820-822)Gga>Aga	p.G274R	SLCO1A2_uc010siq.2_Missense_Mutation_p.G142R|SLCO1A2_uc001res.3_Missense_Mutation_p.G274R|SLCO1A2_uc010sio.2_Missense_Mutation_p.G142R|SLCO1A2_uc010sip.2_Missense_Mutation_p.G142R|SLCO1A2_uc001ret.3_Missense_Mutation_p.G272R|SLCO1A2_uc001reu.2_Missense_Mutation_p.G254R	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	274					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GTCTCTAGTCCTTCCTTTGGA	0.388000														52			13		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417779	150417779	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150417779G>A	uc003whq.3	+	2	827	c.687G>A	c.(685-687)caG>caA	p.Q229Q	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		AGCTGGCGCAGGTGCTGCGCT	0.706000														11			5		0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31608409	31608409	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31608409G>A	uc003akh.3	+	1	161	c.16_splice	c.e1+1	p.G6_splice	LIMK2_uc003aki.3_Splice_Site_p.G6_splice	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	6						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CCGCGCTGGCGGGTAAGGAAG	0.672000														22			14		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63517538	63517538	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63517538C>T	uc001nxq.3	+	3	2793	c.2606C>T	c.(2605-2607)tCc>tTc	p.S869F	RTN3_uc001nxp.3_Missense_Mutation_p.S73F|RTN3_uc009yov.3_Missense_Mutation_p.S757F|RTN3_uc010rmt.2_Non-coding_Transcript|RTN3_uc010rmu.2_Missense_Mutation_p.S73F|RTN3_uc001nxm.3_Missense_Mutation_p.S92F|RTN3_uc001nxn.3_Missense_Mutation_p.S850F|RTN3_uc001nxo.3_Missense_Mutation_p.S73F	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	869	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ATGCTGCTTTCCCTGGCAGCT	0.468000														42			12		0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661745	36661745	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:36661745G>A	uc003ape.3	+	6	1185	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	APOL1_uc011amn.1_Missense_Mutation_p.R165Q|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Missense_Mutation_p.R165Q|APOL1_uc003apf.3_Missense_Mutation_p.R288Q|APOL1_uc011amp.2_Missense_Mutation_p.R288Q|APOL1_uc011amq.2_Missense_Mutation_p.R270Q|APOL1_uc010gwx.3_Missense_Mutation_p.R165Q	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	288					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						GCCCTCAGACGAGCCAGAGCC	0.537000														83			29		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50266481	50266481	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50266481C>T	uc002ppm.3	-	0	35	c.24G>A	c.(22-24)acG>acA	p.T8T		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	8							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		ACTGCCAGATCGTCTTCACCA	0.647000														92			52		0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10255195	10255195	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10255195G>A	uc003bve.1	+	5	827	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	251	Protein kinase.				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|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AGGATCAATCGAAAGATTCTT	0.468000														102			9		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769386	247769386	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247769386C>T	uc010pyz.2	+	0	499	c.499C>T	c.(499-501)Cct>Tct	p.P167S		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTTGCAATTGCCTCTCTGTGG	0.473000														80			37		0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34025231	34025231	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34025231C>T	uc010gfc.1	-	0	719	c.478G>A	c.(478-480)Gag>Aag	p.E160K	GDF5_uc002xck.1_Missense_Mutation_p.E160K	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	160					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CGAAACGGCTCCTTGGGCTCT	0.632000														89			24		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38516566	38516566	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:38516566G>A	uc003tgu.3	-	5	616	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	AMPH_uc003tgv.3_Missense_Mutation_p.R134C	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	134	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTGGCGATGCGATTCTGTCAA	0.522000														60			19		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303861	151303861	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151303861C>T	uc022cgz.1	-	0	232	c.232G>A	c.(232-234)Gat>Aat	p.D78N	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.D78N|MAGEA10_uc004ffm.2_Missense_Mutation_p.D78N|MAGEA10_uc004ffl.3_Missense_Mutation_p.D78N	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	78										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGTCTCATCATCAGCAGAA	0.542000														57			70		0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190340087	190340087	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:190340087G>A	uc002uql.1	+	20	2497	c.2437G>A	c.(2437-2439)Gaa>Aaa	p.E813K	WDR75_uc002uqm.1_Missense_Mutation_p.E749K|WDR75_uc002uqn.1_Missense_Mutation_p.E591K	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	813						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AAAATCTGAAGAAAAAGAACT	0.368000														50			9		0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19981479	19981479	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:19981479C>T	uc002wro.2	+	11	2883	c.2734C>T	c.(2734-2736)Cga>Tga	p.R912*	RIN2_uc010gcu.2_Nonsense_Mutation_p.R430*|RIN2_uc010gcv.2_Nonsense_Mutation_p.R657*	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	863					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GCTGCACAGCCGACCACAGCC	0.522000														64			13		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152382199	152382199	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152382199G>A	uc001ezx.2	-	2	1433	c.1359C>T	c.(1357-1359)ctC>ctT	p.L453L		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	453					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTCCAGCCTGAGGATCACTG	0.572000														87			30		0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171686121	171686121	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:171686121C>T	uc002ugi.3	+	3	704	c.282C>T	c.(280-282)gaC>gaT	p.D94D	GAD1_uc002ugh.3_Silent_p.D94D	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	94					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAGAGACTGACTTCTCTAATC	0.517000														103			33		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114111043	114111043	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:114111043G>A	uc003ynu.3	-	4	1018	c.859C>T	c.(859-861)Caa>Taa	p.Q287*	CSMD3_uc003ynt.3_Nonsense_Mutation_p.Q247*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.Q287*|CSMD3_uc010mcx.1_Nonsense_Mutation_p.Q287*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	287	CUB 2.					integral to membrane|plasma membrane				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						TCTTCCATTTGAAAATCAGTA	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				56			14		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43930230	43930230	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:43930230C>T	uc001uza.4	-	7	948	c.648G>A	c.(646-648)gtG>gtA	p.V216V	ENOX1_uc001uzc.4_Silent_p.V216V|ENOX1_uc001uzb.4_Silent_p.V216V|ENOX1_uc010tfm.1_Silent_p.V29V	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	216	RRM.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGGCAAAGTCCACATGAAGGC	0.547000														59			17		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665948	19665948	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:19665948G>A	uc002wrl.3	+	11	1464	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	423	Poly-Glu.					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						gaatgatgaggaggaagagga	0.527000														54			14		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167159920	167159920	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:167159920C>T	uc003fes.1	-	8	1296	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	SERPINI2_uc003fer.1_Missense_Mutation_p.G399R|SERPINI2_uc003fet.1_Missense_Mutation_p.G399R	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	399					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AAATCTCTTCCTTTTATCTCC	0.328000														31			16		0	0	1	0	0
PECAM1	5175	broad.mit.edu	37	17	62399301	62399301	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62399301C>T	uc002jef.2	-	1		c.1929G>A						P16284	PECA1_HUMAN	Homo sapiens platelet/endothelial cell adhesion molecule (PECAM1), mRNA.						cell adhesion|cell recognition|diapedesis|phagocytosis|platelet activation|platelet degranulation|signal transduction	cell junction|extracellular space|integral to membrane|platelet alpha granule membrane	protein binding							BRCA - Breast invasive adenocarcinoma(8;1.28e-12)			ACATGAAGGTCGTTAGAGGTC	0.507000														22			4		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102464199	102464199	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102464199G>A	uc001phc.3	-	7	1231	c.1218C>T	c.(1216-1218)acC>acT	p.T406T		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	406	Hemopexin-like 3.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CAAAGAAAAGGGTCTTCTGTG	0.388000														54			41		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53630443	53630443	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:53630443G>A	uc004dsp.3	-	26	3164	c.2762C>T	c.(2761-2763)tCc>tTc	p.S921F		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	921					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGGTTTACGGAGATGGAACG	0.418000														18			28		0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37494459	37494459	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37494459C>A	uc003aqt.1	-	2	395	c.333G>T	c.(331-333)aaG>aaT	p.K111N	TMPRSS6_uc003aqs.1_Missense_Mutation_p.K120N|TMPRSS6_uc003aqu.3_Missense_Mutation_p.K111N	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	120					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TTCCTACCATCTTCTGGGCTT	0.557000														283			121		4.38229e-66	4.41056e-66	1	1	0
GJA9	81025	broad.mit.edu	37	1	39341152	39341152	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:39341152C>T	uc021olr.1	-	0	619	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.3_5'Flank|MYCBP_uc021olq.1_Intron	NM_030772	NP_110399	P57773	CXA9_HUMAN	Homo sapiens gap junction protein, alpha 9, 59kDa (GJA9), mRNA.	207					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			ATTGTCTTTTCTGTTGGTCTT	0.338000														57			29		0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25959211	25959211	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:25959211G>A	uc010ayu.3	-	9	2060	c.1954C>T	c.(1954-1956)Ctc>Ttc	p.L652F		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	652					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCAGCCTGAGAAGCATGCCG	0.672000														46			14		0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020050	56020050	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56020050C>T	uc010rjd.2	+	0	375	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTTCATTTATCGGATGTGCAA	0.358000														167			60		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123971140	123971140	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:123971140C>T	uc001lfv.3	+	8	7560	c.7200C>T	c.(7198-7200)atC>atT	p.I2400I	TACC2_uc001lfw.3_Silent_p.I546I|TACC2_uc009xzx.3_Silent_p.I2355I|TACC2_uc010qtv.2_Silent_p.I2404I|TACC2_uc001lfx.3_Silent_p.I104I|TACC2_uc001lfy.3_Silent_p.I104I|TACC2_uc001lfz.3_Silent_p.I478I|TACC2_uc001lga.3_Silent_p.I478I|TACC2_uc009xzy.3_Silent_p.I478I|TACC2_uc001lgb.3_Silent_p.I435I|TACC2_uc010qtw.1_Silent_p.I495I	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2400	SPAZ.					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)				CCTTTGAGATCCCAGCCAGTG	0.532000														104			30		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73544822	73544822	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73544822G>A	uc001jrx.4	+	40	6058	c.5668G>A	c.(5668-5670)Ggc>Agc	p.G1890S		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1893	Cadherin 18.				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						CATCACTGCGGGCAACCGCGA	0.597000														47			25		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125103744	125103744	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:125103744G>A	uc003yqw.3	+	33	4678	c.4472G>A	c.(4471-4473)gGa>gAa	p.G1491E	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1491						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCTGGATGGACCCTACTTT	0.453000														80			46		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17294426	17294426	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:17294426C>T	uc002dfa.3	-	3	1084	c.999G>A	c.(997-999)gtG>gtA	p.V333V		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	333					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGCCGTGGACCACCAGGACAA	0.562000														146			59		0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131234714	131234714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:131234714G>A	uc004ewn.3	-	1	266	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L	FRMD7_uc011muy.2_Silent_p.L30L	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	30	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CTGCAACTCAGGTTAAACAAT	0.373000														29			46		0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186338623	186338624	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:186338623_186338624CC>TT	uc003fqk.4	+	6	1089_1090	c.1008_1009CC>TT	c.(1006-1011)ccccgg>ccTTgg	p.R337W		NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	337					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TGTCGCACCCCCGGAAAACACG	0.609000														86			28		0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24309442	24309442	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:24309442G>A	uc002nru.3	+	3	774	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	ZNF254_uc010xrk.2_Missense_Mutation_p.E129K	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	214					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CAAATGTAAAGAATGTGGAAA	0.303000														106			23		0	0	1	0	0
MICA	100507436	broad.mit.edu	37	6	31378943	31378943	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31378943C>T	uc003ntk.1	+	2	459	c.420C>T	c.(418-420)ttC>ttT	p.F140F	MICA_uc003rxz.1_Intron|MICA_uc021yun.1_Silent_p.F43F|MICA_uc021yuo.1_Silent_p.F43F	NM_001177519	NP_001170990	Q29983	MICA_HUMAN	Homo sapiens MHC class I polypeptide-related sequence A (MICA), transcript variant 1 (allele MICA*00801), mRNA.	140					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	MHC class I protein complex|cell surface|cytoplasm|extracellular space|integral to plasma membrane	natural killer cell lectin-like receptor binding	p.F140F(2)		breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GGGAGCTCTTCCTCTCCCAAA	0.537000														17			12		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740250	176740250	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176740250C>T	uc001gkz.3	+	16	5813	c.4649C>T	c.(4648-4650)aCc>aTc	p.T1550I	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1550	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GACGTGGGCACCATCTGCAAA	0.488000														50			24		0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567678	223567678	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:223567678G>A	uc001hoa.2	+	0	964	c.861G>A	c.(859-861)ctG>ctA	p.L287L		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	287										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GGGAGGAGCTGAAGCGCTCGG	0.657000														9			3		0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40698283	40698283	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40698283C>T	uc002ona.3	+	0	633	c.345C>T	c.(343-345)gcC>gcT	p.A115A		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	115	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TCTATCGGGCCCTGTGGCGTG	0.682000														21			4		0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92488054	92488054	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:92488054G>A	uc001xzy.3	-	3	808	c.434C>T	c.(433-435)tCa>tTa	p.S145L		NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	145					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ATAAGCGAATGAAGATGATGC	0.458000			T	PDGFRB	AML									41			21		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285448	48285448	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:48285448C>T	uc010rht.2	+	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						AAATAATTTTCGTGGGATTTT	0.428000														30			26		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33466940	33466940	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:33466940G>A	uc003zsz.3	-	14	2021	c.1920C>T	c.(1918-1920)ccC>ccT	p.P640P	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Silent_p.P640P|NOL6_uc010mjv.3_Silent_p.P637P|NOL6_uc011lob.2_Silent_p.P588P|NOL6_uc003ztb.1_Silent_p.P640P	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	640					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GTGCATCCAGGGGGCCCCCCA	0.517000											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		376			54		0	0	1	0	0
RHOF	54509	broad.mit.edu	37	12	122218831	122218831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:122218831C>T	uc001ubb.3	-	3	473	c.418G>A	c.(418-420)Gag>Aag	p.E140K	TMEM120B_uc001ubc.4_3'UTR|TMEM120B_uc009zxh.3_3'UTR|TMEM120B_uc001uba.1_Intron|RHOF_uc001ubd.4_Missense_Mutation_p.E140K	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	Homo sapiens ras homolog gene family, member F (in filopodia) (RHOF), mRNA.	140					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CGCAGCTGCTCCTTGTCCTTC	0.662000														25			11		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228556048	228556048	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228556048C>T	uc009xez.1	+	87	19742	c.19698C>T	c.(19696-19698)gtC>gtT	p.V6566V	OBSCN_uc001hsr.1_Silent_p.V1195V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6566	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGTCAAGGTCTACATCCAGC	0.622000														8			3		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141625347	141625347	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141625347C>T	uc002tvj.1	-	26	5363	c.4391G>A	c.(4390-4392)cGa>cAa	p.R1464Q	LRP1B_uc010fnl.1_Missense_Mutation_p.R646Q	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1464					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCATGACCTCGGATGATTTC	0.403000										TSP Lung(27;0.18)				96			30		0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72698948	72698948	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72698948C>T	uc002auq.3	+	2	343	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F	TMEM202_uc002aur.3_Non-coding_Transcript	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	115						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGCAGATTATCTCCAATATTC	0.453000														123			17		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124593205	124593205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124593205C>T	uc001lgs.3	-	9	2585	c.1634G>A	c.(1633-1635)aGt>aAt	p.S545N	CUZD1_uc001lgp.3_Missense_Mutation_p.S264N|CUZD1_uc009yad.3_Missense_Mutation_p.S264N|CUZD1_uc009yaf.3_Missense_Mutation_p.S179N|CUZD1_uc001lgr.3_Missense_Mutation_p.S264N|CUZD1_uc010qty.2_Missense_Mutation_p.S264N|CUZD1_uc009yae.3_Missense_Mutation_p.S264N|CUZD1_uc010qtz.2_Missense_Mutation_p.S545N	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	545					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		p.R544*(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GCCACTTGCACTTCGATCCCT	0.393000														115			43		0	0	1	0	0
TUSC2	11334	broad.mit.edu	37	3	50363574	50363574	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:50363574G>A	uc003czy.1	-	2	449	c.311C>T	c.(310-312)cCt>cTt	p.P104L	TUSC2_uc003czz.1_Non-coding_Transcript	NM_007275	NP_009206	O75896	TUSC2_HUMAN	Homo sapiens tumor suppressor candidate 2 (TUSC2), mRNA.	104					cell cycle|cell proliferation|cell-cell signaling		protein binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAGGATCACAGGGAAATCCAC	0.577000														12			3		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62289169	62289169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:62289169C>T	uc003xuh.3	+	2	785	c.461C>T	c.(460-462)tCc>tTc	p.S154F	CLVS1_uc003xug.2_Missense_Mutation_p.P153S|CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	154	CRAL-TRIO.				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						TGCAGGAACTCCTTCACAGAC	0.493000														95			16		0	0	1	0	0
SYNJ2BP-COX16	100529257	broad.mit.edu	37	14	70842434	70842434	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70842434G>A	uc021rvn.1	-	2	383	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	SYNJ2BP-COX16_uc021rvm.1_Missense_Mutation_p.R86C|SYNJ2BP-COX16_uc021rvo.1_Missense_Mutation_p.R86C|SYNJ2BP-COX16_uc001xmc.4_Missense_Mutation_p.R86C	NM_001202547	NP_001189476			Homo sapiens SYNJ2BP-COX16 readthrough (SYNJ2BP-COX16), transcript variant 1, mRNA.																		CCTGCATTACGAAAGAGGTCT	0.463000														133			52		0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115544705	115544705	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:115544705C>T	uc003ibs.2	+	1	1191	c.669C>T	c.(667-669)aaC>aaT	p.N223N	UGT8_uc003ibt.2_Silent_p.N223N|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	223					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AGAAGTACAACCTGCTGCCAG	0.463000														78			44		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327538	57327538	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57327538C>T	uc002qnu.2	-	6	2623	c.2272G>A	c.(2272-2274)Gaa>Aaa	p.E758K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E729K|PEG3_uc002qnv.2_Missense_Mutation_p.E758K|PEG3_uc002qnw.2_Missense_Mutation_p.E634K|PEG3_uc002qnx.2_Missense_Mutation_p.E632K|PEG3_uc010etr.2_Missense_Mutation_p.E758K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	758					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCTGGTTTTCATAGGGGTTA	0.413000														194			75		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82837421	82837421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:82837421G>A	uc003kii.3	+	7	8955	c.8599G>A	c.(8599-8601)Gaa>Aaa	p.E2867K	VCAN_uc003kij.3_Missense_Mutation_p.E1880K|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E1531K	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2867	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTCTTTTAAGGAAATTCATGT	0.458000														108			32		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597445	136597445	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:136597445C>T	uc003qgx.1	-	4	1471	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	BCLAF1_uc003qgy.1_Silent_p.E404E|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.E404E|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	406					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTCTATAATCCTCTGTCTCCT	0.428000														522			32		0	0	1	0	0
LGI4	163175	broad.mit.edu	37	19	35617264	35617264	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35617264G>A	uc002nxx.2	-	7	1803	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	LGI4_uc002nxy.1_Silent_p.I231I|LGI4_uc002nxz.1_Silent_p.I231I	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 4 (LGI4), mRNA.	403						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CGGCCTCGGGGATGTCTGTGC	0.667000														12			5		0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36552954	36552954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:36552954C>T	uc022abu.1	-	21	2152	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E	AOAH_uc003tfh.4_Nonsense_Mutation_p.W544*|AOAH_uc011kba.2_Nonsense_Mutation_p.W512*	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	0					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GCACCTTTTTCCAGAAATGAT	0.498000														61			26		0	0	1	0	0
NEURL	9148	broad.mit.edu	37	10	105349891	105349891	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105349891G>A	uc001kxh.3	+	6	1897	c.1487_splice	c.e6-1	p.G496_splice	SH3PXD2A_uc010qqr.2_Intron|NEURL_uc021pxn.1_Splice_Site_p.G479_splice	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	496					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TTGTCCTCAGGGACAGCCCCC	0.632000														149			40		0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50252887	50252887	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:50252887C>T	uc003cyn.4	+	4	507	c.366C>T	c.(364-366)gtC>gtT	p.V122V	SLC38A3_uc011bdl.2_Intron|SLC38A3_uc011bdm.2_Silent_p.V54V	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	123					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CCTCAGGGGTCGTGGGTGAGC	0.582000														74			26		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101671417	101671417	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:101671417C>T	uc003uys.4	+	2	341	c.214C>T	c.(214-216)Caa>Taa	p.Q72*	CUX1_uc003uyw.3_Nonsense_Mutation_p.Q72*|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Nonsense_Mutation_p.Q72*|CUX1_uc003uyu.3_Nonsense_Mutation_p.Q72*|CUX1_uc011kkn.2_Nonsense_Mutation_p.Q35*|CUX1_uc003uyx.4_Nonsense_Mutation_p.Q61*	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	61					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAAGAGTTTCCAAGGAGAGGT	0.473000														73			7		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128478853	128478853	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128478853G>A	uc003vnz.4	+	7	1616	c.1407G>A	c.(1405-1407)tcG>tcA	p.S469S	FLNC_uc003voa.4_Silent_p.S469S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	469					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCATGTGTCGGAAGGTAAGG	0.637000														60			30		0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33785099	33785099	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:33785099C>T	uc002kzq.4	+	5	1101	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	360					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CTACGTGGCCCTGTCCTCTCT	0.473000														100			11		0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951447	30951447	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:30951447G>A	uc003aig.1	-	3	905	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GAL3ST1_uc003aih.1_Silent_p.F255F|GAL3ST1_uc003aii.1_Silent_p.F255F|GAL3ST1_uc010gvz.1_Silent_p.F255F	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	255					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	p.F255F(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCGACTCGTCGAAGTACTCTT	0.647000														112			30		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15989593	15989593	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15989593C>T	uc002nbs.1	-	12	1601	c.1551G>A	c.(1549-1551)gaG>gaA	p.E517E	CYP4F2_uc010xot.1_Silent_p.E368E	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	517					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGCTCAGGGGCTCCACCCGCA	0.607000														33			15		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879424	3879424	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:3879424G>A	uc002kmf.3	-	3	1172	c.645C>T	c.(643-645)taC>taT	p.Y215Y	DLGAP1_uc010wyz.2_Silent_p.Y215Y|DLGAP1_uc002kmk.2_Silent_p.Y215Y|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	215					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AGGGGGCGTGGTAGATGCACA	0.677000														140			52		0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52830625	52830625	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52830625G>A	uc003dfv.2	+	2	279	c.243G>A	c.(241-243)gtG>gtA	p.V81V	ITIH3_uc011bek.1_Silent_p.V81V	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	81	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCTTTGATGTGGAGCTGCCCA	0.567000														21			8		0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203029380	203029380	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203029380C>T	uc009xaj.3	+	26	2994	c.2994C>T	c.(2992-2994)gcC>gcT	p.A998A	PPFIA4_uc010pqf.2_Silent_p.A580A|PPFIA4_uc001gyz.3_Silent_p.A367A|PPFIA4_uc001gza.3_Silent_p.A367A|PPFIA4_uc001gzb.1_Silent_p.A62A			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	367					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ATGTGGCAGCCTGCCGGGCCA	0.617000														41			14		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69335027	69335027	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:69335027C>T	uc002ars.2	+	9	1570	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.S464F|NOX5_uc002arp.2_Missense_Mutation_p.S492F|NOX5_uc010bid.2_Missense_Mutation_p.S475F|NOX5_uc010bie.2_Missense_Mutation_p.S310F|NOX5_uc002arr.2_Missense_Mutation_p.S482F|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	510	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CACATTCGGTCCCAAGGCCAG	0.557000														73			13		0	0	1	0	0
PRL	5617	broad.mit.edu	37	6	22294766	22294766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:22294766C>T	uc003ndp.3	-	1	595	c.76G>A	c.(76-78)Gtg>Atg	p.V26M	PRL_uc003ndo.3_Missense_Mutation_p.V27M|PRL_uc003ndq.3_Missense_Mutation_p.V26M|PRL_uc003ndr.1_Non-coding_Transcript	NM_000948	NP_001157030	P01236	PRL_HUMAN	Homo sapiens prolactin (PRL), transcript variant 1, mRNA.	26					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					AAGGGGGCCACGCTCTGGCAC	0.592000														26			4		0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4839365	4839365	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4839365G>A	uc002mbj.2	-	7	1321	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	PLIN3_uc002mbk.2_Silent_p.L370L|PLIN3_uc002mbl.3_Silent_p.L381L	NM_005817	NP_005808	O60664	PLIN3_HUMAN	Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.	382					vesicle-mediated transport	Golgi apparatus|endosome membrane|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CTGCTGGACAGGTCCTGGAAG	0.647000														57			13		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713226	70713226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70713226C>T	uc010ttg.2	-	0	1293	c.642G>A	c.(640-642)atG>atA	p.M214I						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		AGGTGGTCTTCATAAAATCAG	0.413000														145			60		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90455056	90455056	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:90455056G>A	uc003pnn.1	-	28	4230	c.4114C>T	c.(4114-4116)Ctc>Ttc	p.L1372F		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1372					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGCATCGCGAGTCTCCGCATG	0.453000														53			34		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062500	9062500	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9062500C>T	uc002mkp.3	-	2	25150	c.24946G>A	c.(24946-24948)Gaa>Aaa	p.E8316K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8318	Ser-rich.|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						GTTCCAGGTTCTCTGCTTATG	0.488000														88			43		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15826454	15826454	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:15826454C>T	uc002ddx.3	-	27	3746	c.3639G>A	c.(3637-3639)gaG>gaA	p.E1213E	MYH11_uc002ddv.3_Silent_p.E1213E|MYH11_uc002ddw.3_Silent_p.E1206E|MYH11_uc002ddy.3_Silent_p.E1206E|MYH11_uc010bvg.3_Silent_p.E1038E	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1206					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTGTGAGCTCCTCCACCGCCT	0.527000			T	CBFB	AML									151			39		0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179533882	179533882	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179533882G>A	uc001gmq.4	-	1	406	c.321C>T	c.(319-321)ctC>ctT	p.L107L	NPHS2_uc009wxi.3_Silent_p.L107L	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	107					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GCAGGGAAATGAGGACAAGAA	0.413000														53			22		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139657446	139657446	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:139657446C>T	uc011kqv.2	+	8	1078	c.843C>T	c.(841-843)tcC>tcT	p.S281S	TBXAS1_uc003vvh.3_Silent_p.S235S|TBXAS1_uc010lne.3_Silent_p.S167S|TBXAS1_uc011kqu.2_Silent_p.S186S|TBXAS1_uc003vvi.3_Silent_p.S235S|TBXAS1_uc011kqw.2_Silent_p.S215S|TBXAS1_uc003vvj.3_Silent_p.S235S	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	234					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CATTTCCATCCATAATGGTCC	0.458000														67			24		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112705447	112705447	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:112705447G>A	uc004bei.2	+	6	1170	c.978G>A	c.(976-978)acG>acA	p.T326T	PALM2-AKAP2_uc004beg.3_Silent_p.T294T|PALM2-AKAP2_uc004beh.4_Silent_p.T326T|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AAGAGGAGACGAAAAAGGTGC	0.502000														82			34		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21214532	21214532	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21214532G>A	uc010bwn.1	-	9	1212	c.1130C>T	c.(1129-1131)tCa>tTa	p.S377L	ZP2_uc002dii.2_Missense_Mutation_p.S338L	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	338	ZP.				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	p.F377S(1)		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)		CAGCTTGAGTGAAGCTAAGTA	0.463000														81			21		0	0	1	0	0
F2RL2	2151	broad.mit.edu	37	5	75914387	75914387	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:75914387C>T	uc003kem.3	-	1	330	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Missense_Mutation_p.E27K	NM_004101	NP_004092	O00254	PAR3_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA.	49					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		GGGAACTCTTCAAAAGAATTT	0.418000														121			48		0	0	1	0	0
C22orf43	51233	broad.mit.edu	37	22	23956368	23956368	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:23956368G>A	uc002zxf.3	-	8	873	c.575C>T	c.(574-576)tCa>tTa	p.S192L		NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN	Homo sapiens chromosome 22 open reading frame 43 (C22orf43), mRNA.	192	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						GTGTCTCAGTGAGCATCTTAA	0.443000														110			17		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33590564	33590564	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:33590564G>A	uc021vft.1	+	30	4728	c.4705G>A	c.(4705-4707)Gat>Aat	p.D1569N	LTBP1_uc002rou.3_Missense_Mutation_p.D1243N|LTBP1_uc002rov.3_Missense_Mutation_p.D1190N|LTBP1_uc010ymz.2_Missense_Mutation_p.D1201N|LTBP1_uc010yna.2_Missense_Mutation_p.D1148N|LTBP1_uc010ynb.2_Missense_Mutation_p.D467N	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1569	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCCCCTGAAGGATTCAGGTGA	0.542000														36			24		0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16168605	16168605	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:16168605C>T	uc004cxj.3	+	1	1244	c.591C>T	c.(589-591)gcC>gcT	p.A197A		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	197					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TTAGCTGTGCCCCATACCCAC	0.488000														43			72		0	0	1	0	0
HCN2	610	broad.mit.edu	37	19	603589	603589	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:603589C>T	uc002lpe.3	+	1	731	c.678C>T	c.(676-678)ctC>ctT	p.L226L		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	226					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGGGAAACCTCATCATCATCC	0.612000														28			13		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396858	154396858	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:154396858C>T	uc010jih.1	+	0	3599	c.3439C>T	c.(3439-3441)Cct>Tct	p.P1147S		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1147	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGGAGGATCCTACCGAGGT	0.542000														62			38		0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108389018	108389018	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:108389018G>A	uc001kyl.3	-	18	2786	c.2604C>T	c.(2602-2604)acC>acT	p.T868T	SORCS1_uc021pxw.1_Silent_p.T868T|SORCS1_uc009xxs.3_Silent_p.T868T|SORCS1_uc001kym.3_Silent_p.T868T|SORCS1_uc001kyn.2_Silent_p.T868T|SORCS1_uc001kyo.3_Silent_p.T868T	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	868	PKD.					integral to membrane	neuropeptide receptor activity|protein binding	p.T868T(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCACCTGCACGGTCACACGGA	0.458000														28			22		0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492959	21492959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:21492959C>T	uc002wsi.3	-	1	781	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	142					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CGCTCCAGCTCGTAGGTCTGC	0.677000														22			8		0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44610887	44610887	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44610887C>T	uc002oyh.2	+	5	891	c.574C>T	c.(574-576)Cgt>Tgt	p.R192C	LOC100379224_uc002oyi.3_Non-coding_Transcript	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	192					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				CTCAGCCCTTCGTATTCATCA	0.413000														248			27		0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6187365	6187365	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6187365C>T	uc002mef.1	+	11	1839	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S	ACSBG2_uc002mee.1_Missense_Mutation_p.P351S|ACSBG2_uc002meg.1_Missense_Mutation_p.P538S|ACSBG2_uc002meh.1_Missense_Mutation_p.P538S|ACSBG2_uc002mei.1_Missense_Mutation_p.P488S|ACSBG2_uc010xiz.1_Missense_Mutation_p.P538S	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	538					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						GAAGAAGATCCCCATCATCAG	0.468000														114			45		0	0	1	0	0
PDLIM4	8572	broad.mit.edu	37	5	131607318	131607318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:131607318C>T	uc003kwo.3	+	4	906	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S	BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Intron|PDLIM4_uc003kwp.3_Intron	NM_003687	NP_003678	P50479	PDLI4_HUMAN	Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA.	0	LIM zinc-binding.						protein binding|zinc ion binding	p.E277K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCCTGGCTTCCCGATTCCCT	0.697000														10			4		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026326	79026326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:79026326G>A	uc003kgc.3	+	1	1810	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	580	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTTGTCTGAGGAAGAAAGAGA	0.423000														310			112		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8528672	8528672	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:8528672C>T	uc003zkk.3	-	14	1203	c.460G>A	c.(460-462)Gat>Aat	p.D154N	PTPRD_uc003zkp.3_Missense_Mutation_p.D154N|PTPRD_uc003zkq.3_Missense_Mutation_p.D154N|PTPRD_uc003zkr.3_Missense_Mutation_p.D154N|PTPRD_uc003zks.3_Missense_Mutation_p.D154N|PTPRD_uc022bdj.1_Missense_Mutation_p.D154N|PTPRD_uc003zkt.1_Missense_Mutation_p.D154N	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	154	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D154Y(5)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTTCTGGATCCGGATTACCA	0.483000										TSP Lung(15;0.13)				139			15		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29416761	29416761	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29416761G>A	uc002rmy.3	-	28	5144	c.4192C>T	c.(4192-4194)Ccg>Tcg	p.P1398S	ALK_uc010ymo.2_Missense_Mutation_p.P330S	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1398					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TATTCTATCGGCAAAGCGGTG	0.468000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					52			5		0	0	1	0	0
PDGFB	5155	broad.mit.edu	37	22	39631795	39631795	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:39631795C>T	uc003axf.3	-	1	1137	c.148G>A	c.(148-150)Gga>Aga	p.G50R	PDGFB_uc003axe.3_Missense_Mutation_p.G35R	NM_002608	NP_002599	P01127	PDGFB_HUMAN	Homo sapiens platelet-derived growth factor beta polypeptide (PDGFB), transcript variant 1, mRNA.	50					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	Golgi membrane|basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	CCGGGGTCTCCGTGCAGCAGG	0.617000			T	COL1A1	DFSP									23			8		0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136320692	136320692	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:136320692C>T	uc004cdv.4	+	24	3979	c.3535C>T	c.(3535-3537)Ctg>Ttg	p.L1179L	ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Intron|ADAMTS13_uc004cdu.1_Intron|ADAMTS13_uc004cdw.4_Intron|ADAMTS13_uc004cdx.4_Intron|ADAMTS13_uc004cdz.4_Silent_p.L849L|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.4_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	1179					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TCGGCGGCTCCTGCCCGGGCC	0.672000														77			23		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140732107	140732107	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140732107G>A	uc003ljo.2	+	0	2280	c.2280G>A	c.(2278-2280)gaG>gaA	p.E760E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljq.2_5'Flank|PCDHGC5_uc011daq.2_Silent_p.E760E|PCDHGC5_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	786					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)			CAAAGACAGAGTTTAATTCTC	0.488000														54			11		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830111	7830111	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7830111C>T	uc010dvt.3	+	2	289	c.171C>T	c.(169-171)tcC>tcT	p.S57S	CLEC4M_uc010xjv.1_Intron|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc002mih.3_Silent_p.S57S|CLEC4M_uc010xjw.2_Intron|CLEC4M_uc010dvs.3_Silent_p.S56S|CLEC4M_uc010xjx.2_Silent_p.S29S|CLEC4M_uc002mhz.3_Silent_p.S57S|CLEC4M_uc002mic.3_Silent_p.S29S|CLEC4M_uc002mia.3_Intron	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	57					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AACTCCTCTCCTTCATGCTCT	0.622000														101			34		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35945118	35945118	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:35945118G>A	uc003olm.3	-	8	1147	c.1036C>T	c.(1036-1038)Cct>Tct	p.P346S	SLC26A8_uc003oll.3_Missense_Mutation_p.P241S|SLC26A8_uc003oln.3_Missense_Mutation_p.P346S	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	346					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						GGTGTTACAGGAAGCAGAAAG	0.423000														85			23		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109677760	109677760	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:109677760C>T	uc001tob.3	+	34	4907	c.4788C>T	c.(4786-4788)ttC>ttT	p.F1596F	ACACB_uc001toc.3_Silent_p.F1596F|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.F262F	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1596					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCCTCAACTTCGTGCCCACTG	0.607000														61			45		0	0	1	0	0
VSTM2L	128434	broad.mit.edu	37	20	36572431	36572431	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36572431C>T	uc002xhk.4	+	3	645	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W		NM_080607	NP_542174	Q96N03	VTM2L_HUMAN	Homo sapiens V-set and transmembrane domain containing 2 like (VSTM2L), mRNA.	131	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				GCGCCTGTCCCGGGTGAAGCC	0.642000														25			3		0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788463	42788463	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42788463G>A	uc002xli.1	-	1	1837	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	322					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCGTGGCGCAGGTTGTCCAGC	0.662000														36			17		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25684939	25684939	+	Missense_Mutation	SNP	C	T	T	rs141199449		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:25684939C>T	uc001isj.3	+	2	1168	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	370						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAACAACTTTCGGAGTAAGTG	0.358000														35			12		0	0	1	0	0
AQP8	343	broad.mit.edu	37	16	25235776	25235776	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:25235776G>A	uc002doc.3	+	3	563	c.481G>A	c.(481-483)Gag>Aag	p.E161K		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	161					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GTTGGTGGCAGAGATCATCCT	0.617000														50			14		0	0	1	0	0
GPR84	53831	broad.mit.edu	37	12	54756536	54756536	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54756536G>T	uc021qyp.1	-	0	1100	c.1100C>A	c.(1099-1101)cCt>cAt	p.P367H	GPR84_uc001sfu.3_Missense_Mutation_p.P367H	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA.	367						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P367H(2)		NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						ATAGAGCACAGGGTTGATGCA	0.542000														209			84		2.5963e-48	2.61287e-48	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38835841	38835841	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38835841C>T	uc021yzh.1	+	47	6806	c.6697C>T	c.(6697-6699)Cat>Tat	p.H2233Y	DNAH8_uc003ooe.2_Missense_Mutation_p.H2016Y	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.R2232H(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATCTCAGGTTCATTATGACTT	0.373000														75			21		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	619829	619829	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:619829C>T	uc003gap.3	+	0	467	c.414C>T	c.(412-414)gtC>gtT	p.V138V	PDE6B_uc003gao.4_Silent_p.V138V	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	138	GAF 1.				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						ACATCGGGGTCGTGGGCCACG	0.647000														9			6		0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285653	44285653	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:44285653G>A	uc010qfe.1	-	0	213	c.183C>T	c.(181-183)ctC>ctT	p.L61L						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		GACAATCTGTGAGTGTGCCCC	0.433000														101			38		0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39895211	39895211	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:39895211G>A	uc003opb.3	-	0	245	c.107C>T	c.(106-108)cCt>cTt	p.P36L	MOCS1_uc003opa.3_Missense_Mutation_p.P36L|MOCS1_uc003opd.3_Intron|MOCS1_uc003ope.3_Intron	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	32	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGACAGACCAGGGAGGAAGCA	0.652000														14			5		0	0	1	0	0
SAV1	60485	broad.mit.edu	37	14	51132005	51132005	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:51132005G>A	uc001wyh.1	-	1	765	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	SAV1_uc021rsy.1_Non-coding_Transcript	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	Homo sapiens salvador homolog 1 (Drosophila) (SAV1), mRNA.	143					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					CGCTTTCTCTGACCATCAAAA	0.403000														67			31		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020566	5020566	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5020566G>A	uc010qyu.2	+	0	354	c.354G>A	c.(352-354)ctG>ctA	p.L118L		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTGTTGCTGGCCATGGCCT	0.498000														145			65		0	0	1	0	0
C15orf53	400359	broad.mit.edu	37	15	38990427	38990427	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:38990427C>T	uc001zkf.1	+	1	231	c.221C>T	c.(220-222)tCc>tTc	p.S74F		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	Homo sapiens chromosome 15 open reading frame 53 (C15orf53), mRNA.	74										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		GAAGATGCTTCCCTTCTCTTC	0.507000														50			20		0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45209064	45209064	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45209064G>A	uc010xxd.2	+	4	1072	c.866G>A	c.(865-867)gGg>gAg	p.G289E		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	289										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GCCCAGGAGGGGACGTACACA	0.587000														82			47		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183104878	183104878	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:183104878C>T	uc002uos.3	-	3	441	c.357G>A	c.(355-357)cgG>cgA	p.R119R	PDE1A_uc010zfp.1_Silent_p.R15R|PDE1A_uc002uoq.1_Silent_p.R119R|PDE1A_uc010zfq.1_Silent_p.R119R|PDE1A_uc002uor.3_Silent_p.R103R|PDE1A_uc002uou.3_Silent_p.R85R	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	119					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R119W(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GCACAATGCTCCGAAATTTTG	0.418000														113			31		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21216784	21216784	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21216784G>A	uc003zor.1	-	0	527	c.521C>T	c.(520-522)tCc>tTc	p.S174F	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	174					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AAAAGAGAAGGATCTCATGAT	0.383000														244			144		0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102851377	102851377	+	Missense_Mutation	SNP	G	A	A	rs34289672		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:102851377G>A	uc002tbs.3	+	10	1444	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	IL1RL2_uc002tbt.3_Missense_Mutation_p.E322K	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	440	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TGTCATCGATGAAAACGTTAA	0.463000														68			29		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178562966	178562966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178562966C>T	uc003mjw.3	-	12	2131	c.2029G>A	c.(2029-2031)Ggg>Agg	p.G677R		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	677	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGCGCGTCCCGTCATGCACC	0.642000														64			34		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294042	25294042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25294042C>T	uc003abg.2	+	19	2448	c.2291C>T	c.(2290-2292)tCc>tTc	p.S764F	SGSM1_uc010guu.1_Missense_Mutation_p.S709F|SGSM1_uc003abh.2_Missense_Mutation_p.S703F|SGSM1_uc003abj.2_Missense_Mutation_p.S648F|SGSM1_uc003abi.1_Missense_Mutation_p.S684F	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	764	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGCACTTGTTCCCCAGACTCG	0.562000														50			6		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11022970	11022970	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:11022970C>T	uc003jfa.1	-	16	3055	c.2910G>A	c.(2908-2910)gtG>gtA	p.V970V	CTNND2_uc010itt.2_Silent_p.V879V|CTNND2_uc011cmy.1_Silent_p.V633V|CTNND2_uc011cmz.1_Silent_p.V537V|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.V562V	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	970					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTTGGTAATCACTTCGTGCA	0.517000														60			31		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573155	38573155	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38573155C>T	uc002ohk.3	+	2	1459	c.950C>T	c.(949-951)tCc>tTc	p.S317F		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	317					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCTGGGCGTTCCCCGGGGGAG	0.687000														20			4		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263239	34263239	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:34263239C>T	uc002nus.4	+	4	1051	c.546C>T	c.(544-546)tcC>tcT	p.S182S	CHST8_uc002nut.4_Silent_p.S182S|CHST8_uc002nuu.3_Silent_p.S182S	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	182					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCCACGTGTCCCGTATCTTCG	0.706000														47			6		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42149979	42149979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:42149979C>T	uc003baz.1	+	16	1905	c.1880C>T	c.(1879-1881)tCc>tTc	p.S627F	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_5'UTR|MEI1_uc003bbc.1_5'UTR|MEI1_uc010gym.1_5'UTR	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	627							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGTGTGTTCCAATTTCCTC	0.448000														61			41		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601331	75601331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:75601331C>T	uc001sxg.1	-	1	977	c.433G>A	c.(433-435)Gag>Aag	p.E145K	KCNC2_uc009zry.3_Missense_Mutation_p.E145K|KCNC2_uc001sxe.3_Missense_Mutation_p.E145K|KCNC2_uc001sxf.3_Missense_Mutation_p.E145K|KCNC2_uc010stw.1_Missense_Mutation_p.E145K	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	145					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						ACGTCGGTCTCGTCGATGCCC	0.667000														38			16		0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46106066	46106066	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:46106066G>A	uc001coq.3	-	7	1921	c.560C>T	c.(559-561)cCt>cTt	p.P187L		NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	Homo sapiens GC-rich promoter binding protein 1-like 1 (GPBP1L1), mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P186P(1)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					CTTGGCACTAGGCGGGTTTTC	0.443000														144			59		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231972	7231972	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:7231972C>T	uc010wzk.2	+	0	836	c.836C>T	c.(835-837)cCt>cTt	p.P279L		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	279										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TTATCCAAGCCTCTGCCGGAG	0.597000														196			73		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110830538	110830538	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:110830538G>A	uc001vqw.4	-	31	2621	c.2499C>T	c.(2497-2499)ttC>ttT	p.F833F		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	833	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAGTCCAGGGAATCCGGGGA	0.522000														93			28		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75597272	75597272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:75597272C>T	uc003kei.1	+	11	2036	c.1902C>T	c.(1900-1902)tcC>tcT	p.S634S		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	634					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCAGTGAATCCATGATGATAG	0.507000														184			40		0	0	1	0	0
AARSD1	80755	broad.mit.edu	37	17	41108281	41108281	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:41108281G>A	uc010whg.2	-	10	1471	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	AARSD1_uc002icd.3_Silent_p.I314I|AARSD1_uc010cyu.1_Silent_p.I201I	NM_001136042	NP_079543	Q9BTE6	AASD1_HUMAN	Homo sapiens alanyl-tRNA synthetase domain containing 1 (AARSD1), transcript variant 1, mRNA.	201					alanyl-tRNA aminoacylation	cytoplasm	ATP binding|alanine-tRNA ligase activity|metal ion binding|nucleic acid binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CAACGCCCTCGATGTTAACAA	0.547000														91			14		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43372307	43372307	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43372307G>A	uc002ovd.1	-	4	1327	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron|PSG3_uc002ovc.3_Missense_Mutation_p.R304C|PSG3_uc002ova.2_Missense_Mutation_p.R304C|PSG3_uc002ouz.2_Missense_Mutation_p.R397C|PSG3_uc002ovb.3_Missense_Mutation_p.R397C	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	397	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region		p.R397C(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCTGAGTTACGAACAGAGCAA	0.448000														293			139		0	0	1	0	0
CUL4A	8451	broad.mit.edu	37	13	113909298	113909298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:113909298C>T	uc021rmv.1	+	17	1901	c.1890C>T	c.(1888-1890)tcC>tcT	p.S630S	CUL4A_uc021rmu.1_Silent_p.S530S|CUL4A_uc010agu.3_Silent_p.S491S|CUL4A_uc010tjz.2_Silent_p.S309S	NM_001008895	NP_003580	Q13619	CUL4A_HUMAN	Homo sapiens cullin 4A (CUL4A), transcript variant 1, mRNA.	630					DNA repair|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CGCTGCAGTCCCTGGCCTGTG	0.458000														34			13		0	0	1	0	0
MBL2	4153	broad.mit.edu	37	10	54530490	54530490	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:54530490G>A	uc001jjt.3	-	1	309	c.244C>T	c.(244-246)Cca>Tca	p.P82S		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	82	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GAAGGCCCTGGATTTCCTGGA	0.547000														132			28		0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47286726	47286726	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:47286726C>T	uc001vbk.3	+	14	1884	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*	LRCH1_uc001vbj.3_Nonsense_Mutation_p.R550*|LRCH1_uc001vbl.4_Nonsense_Mutation_p.R550*	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	550										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CCTGAAGCCTCGATCAGGTAA	0.423000														130			63		0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19295170	19295170	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:19295170C>T	uc003cbk.1	+	1	296	c.101C>T	c.(100-102)gCc>gTc	p.A34V	KCNH8_uc011awe.1_Missense_Mutation_p.A34V|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	34	PAS.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTTGCCAATGCCCAGGTGGCT	0.428000														157			69		0	0	1	0	0
LRRC28	123355	broad.mit.edu	37	15	99828126	99828126	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:99828126G>A	uc002bva.1	+	4	510	c.355G>A	c.(355-357)Gct>Act	p.A119T	LRRC28_uc010urs.1_Non-coding_Transcript|LRRC28_uc002bvb.1_5'UTR|LRRC28_uc010urt.1_5'UTR|LRRC28_uc002bvc.1_Missense_Mutation_p.A119T|LRRC28_uc010uru.1_Missense_Mutation_p.A119T|LRRC28_uc002bvd.1_Intron	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	Homo sapiens leucine rich repeat containing 28 (LRRC28), mRNA.	119										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TCTTCGATTAGCTAATAACCA	0.368000														160			26		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57754021	57754021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:57754021G>A	uc010bfw.3	+	8	2527	c.2334G>A	c.(2332-2334)atG>atA	p.M778I	CGNL1_uc002aeg.3_Missense_Mutation_p.M778I	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	778						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATCAGGAGATGGACAAGCTGA	0.537000														69			26		0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111319010	111319010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:111319010C>T	uc001trv.1	+	6	958	c.763C>T	c.(763-765)Ctc>Ttc	p.L255F	CCDC63_uc009zvt.1_Missense_Mutation_p.S109F|CCDC63_uc010sye.1_Missense_Mutation_p.L215F|CCDC63_uc001trw.1_Missense_Mutation_p.L170F	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	255										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GCTGGAGCGTCTCTATGCCCA	0.552000														30			11		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82416145	82416146	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:82416145_82416146CC>TT	uc001dit.4	+	6	1652_1653	c.1471_1472CC>TT	c.(1471-1473)cca>TTa	p.P491L	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.P491L|LPHN2_uc001div.3_Missense_Mutation_p.P491L|LPHN2_uc009wcd.3_Missense_Mutation_p.P491L|LPHN2_uc001diw.3_Missense_Mutation_p.P62L	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	491					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGTTGAACGACCATGCCCTAAG	0.376000														68			22		0	0	1	0	0
UBL7	84993	broad.mit.edu	37	15	74740913	74740913	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74740913G>A	uc002axw.1	-	9	1073	c.911C>T	c.(910-912)tCc>tTc	p.S304F	UBL7_uc002axx.1_Missense_Mutation_p.S344F|UBL7_uc002axy.1_Missense_Mutation_p.S304F|UBL7_uc002axz.1_Missense_Mutation_p.S304F	NM_032907	NP_957717	Q96S82	UBL7_HUMAN	Homo sapiens ubiquitin-like 7 (bone marrow stromal cell-derived) (UBL7), transcript variant 1, mRNA.	304							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GACACCAGAGGACATTGGTGA	0.552000														293			79		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50741774	50741774	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:50741774G>A	uc002egm.1	+	2	654	c.549G>A	c.(547-549)agG>agA	p.R183R	NOD2_uc021tia.1_5'UTR|NOD2_uc010cbk.1_Silent_p.R156R|NOD2_uc002egl.1_Intron|NOD2_uc010cbl.1_5'Flank|NOD2_uc010cbm.1_5'Flank|NOD2_uc010cbn.1_5'Flank|NOD2_uc010cbo.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	183	CARD 2.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGGCAAGAAGGCTGCTTGATC	0.478000														84			37		0	0	1	0	0
GFRA2	2675	broad.mit.edu	37	8	21563492	21563492	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:21563492G>A	uc003wzu.1	-	4	1531	c.856C>T	c.(856-858)Cct>Tct	p.P286S	GFRA2_uc003wzv.1_Missense_Mutation_p.P181S|GFRA2_uc003wzw.1_Missense_Mutation_p.P153S	NM_001495	NP_001486	O00451	GFRA2_HUMAN	Homo sapiens GDNF family receptor alpha 2 (GFRA2), transcript variant 1, mRNA.	286						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TTGTCCGCAGGGCAGCTGGTG	0.587000														7			4		0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85448657	85448657	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:85448657G>A	uc010rth.2	-	3	821	c.432C>T	c.(430-432)tcC>tcT	p.S144S	SYTL2_uc010rtg.2_Silent_p.S144S|SYTL2_uc010rti.2_Silent_p.S144S|SYTL2_uc010rtj.2_Silent_p.S96S|SYTL2_uc001pbf.4_Silent_p.S144S|SYTL2_uc010rtf.2_Silent_p.S2S	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	144					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGTTTTCCTGGGACATATCAA	0.373000														49			10		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750162	140750162	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140750162G>A	uc003ljw.2	+	0	201	c.201G>A	c.(199-201)cgG>cgA	p.R67R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc011dat.2_Silent_p.R67R	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	65	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L66S(1)		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)			GGAACCTGCGGGTTATTGCAG	0.542000														195			18		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159660564	159660564	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:159660564C>T	uc010kjv.3	+	13	4396	c.4196C>T	c.(4195-4197)cCc>cTc	p.P1399L	FNDC1_uc010kjw.1_Missense_Mutation_p.P1284L	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1399						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAAGGGACCCCCGTGGTGAGT	0.483000														6			4		0	0	1	0	0
MRPS10	55173	broad.mit.edu	37	6	42179636	42179636	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:42179636G>A	uc003osa.4	-	3	252	c.206C>T	c.(205-207)cCa>cTa	p.P69L	MRPS10_uc011dup.2_Missense_Mutation_p.P28L	NM_018141	NP_060611	P82664	RT10_HUMAN	Homo sapiens mitochondrial ribosomal protein S10 (MRPS10), nuclear gene encoding mitochondrial protein, mRNA.	69					translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			TAATATGTCTGGTTCATCAGA	0.343000														87			6		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1488505	1488505	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1488505C>T	uc002qwr.3	+	8	1562	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.F492F|TPO_uc002qwx.3_Silent_p.F492F|TPO_uc002qwu.3_Silent_p.F492F|TPO_uc010yio.2_Silent_p.F319F|TPO_uc010yip.2_Silent_p.F492F|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	492					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCTTCCGCTTCGGCCATGCCA	0.652000														51			12		0	0	1	0	0
PTGES	9536	broad.mit.edu	37	9	132510954	132510954	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:132510954G>A	uc004byi.3	-	1	242	c.189C>T	c.(187-189)ccC>ccT	p.P63P	PTGES_uc010myy.3_Non-coding_Transcript	NM_004878	NP_004869	O14684	PTGES_HUMAN	Homo sapiens prostaglandin E synthase (PTGES), mRNA.	63					prostaglandin biosynthetic process|signal transduction	integral to membrane|membrane fraction	glutathione binding|prostaglandin-E synthase activity			lung(1)|skin(1)	2		Ovarian(14;0.00556)				GTTCCACGTCGGGGTCGCTCC	0.602000														20			5		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21033937	21033937	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21033937G>A	uc010sil.2	+	9	1545	c.1480G>A	c.(1480-1482)Ggt>Agt	p.G494S	SLCO1B3_uc001rek.3_Missense_Mutation_p.G494S|SLCO1B3_uc001rel.3_Missense_Mutation_p.G494S|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	494	Kazal-like.				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)					ATCCTCAAGTGGTATTAAAAA	0.358000														119			47		0	0	1	0	0
FKBP9L	360132	broad.mit.edu	37	7	55759114	55759114	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55759114G>A	uc010kzl.3	-	2	268	c.168C>T	c.(166-168)atC>atT	p.I56I	FKBP9L_uc003tqt.3_5'Flank|FKBP9L_uc011kcs.2_5'Flank					Homo sapiens FK506 binding protein 9-like (FKBP9L), transcript variant 4, non-coding RNA.											endometrium(1)|kidney(1)|lung(3)	5						AGTGGGAGGTGATGCTGATGG	0.522000														107			18		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111772339	111772339	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:111772339G>A	uc001tsa.2	+	18	3175	c.3021G>A	c.(3019-3021)gaG>gaA	p.E1007E		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1007						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E1007D(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGTCCCTGGAGAGCAGCAAGG	0.652000														41			16		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18062264	18062264	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:18062264G>A	uc021trm.1	+	51	9328	c.9109G>A	c.(9109-9111)Gag>Aag	p.E3037K	MYO15A_uc021trl.1_Missense_Mutation_p.E3035K|MYO15A_uc010vxi.2_Missense_Mutation_p.E301K|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_Missense_Mutation_p.E26K|MYO15A_uc002gsl.3_5'UTR|MYO15A_uc010vxm.2_5'Flank|MYO15A_uc002gsm.1_5'Flank|MYO15A_uc010cpv.3_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	3037	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAAATCCAAGGAGCCTCGGGA	0.562000														35			13		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48733332	48733332	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48733332G>A	uc002isl.3	+	1	265	c.185G>A	c.(184-186)gGc>gAc	p.G62D	ABCC3_uc002isk.4_Missense_Mutation_p.G62D	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	62					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CATTGTCGTGGCTACATCATC	0.582000														48			15		0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68021426	68021426	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:68021426G>A	uc010cey.3	-	9	1608	c.1444C>T	c.(1444-1446)Ctt>Ttt	p.L482F	DPEP2_uc002eve.3_Missense_Mutation_p.L482F|DPEP2_uc002evf.3_Non-coding_Transcript	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	482					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CACAGAATAAGGACTGGGAAG	0.542000														174			20		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761935	92761935	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92761935G>A	uc003umh.1	-	4	4566	c.3350C>T	c.(3349-3351)tCc>tTc	p.S1117F	SAMD9L_uc003umj.1_Missense_Mutation_p.S1117F|SAMD9L_uc003umi.1_Missense_Mutation_p.S1117F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1117F|SAMD9L_uc003umk.1_Missense_Mutation_p.S1117F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1117F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1117F|SAMD9L_uc022ahh.1_Missense_Mutation_p.S1117F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1117										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAAATATAGGAATTTTTAGG	0.383000														131			38		0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38078497	38078497	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:38078497C>T	uc001cbl.2	-	7	1614	c.722G>A	c.(721-723)aGa>aAa	p.R241K	RSPO1_uc009vvf.2_Missense_Mutation_p.R214K|RSPO1_uc001cbm.2_Missense_Mutation_p.R241K|RSPO1_uc009vvg.2_Missense_Mutation_p.R178K	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	241					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCCTTGCGTCTTCGAGAGCC	0.652000														109			38		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107062173	107062173	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:107062173C>T	uc021ser.1	-	150		c.6813G>A								Parts of antibodies, mostly variable regions.																		TCACAGAGCTCAGCTTCAGGT	0.547000														163			49		0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75112979	75112979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:75112979C>T	uc002ayt.1	+	7	780	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S	LMAN1L_uc010bke.1_Missense_Mutation_p.P248S	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	260						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCCTAGGTTCCCCCTCAGCC	0.642000														183			40		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958874	54958874	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:54958874C>T	uc003dhl.3	-	1	510	c.376G>A	c.(376-378)Gag>Aag	p.E126K	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	126						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AAATCAAGCTCCCTCAGCTGA	0.463000														57			20		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40030593	40030593	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:40030593C>T	uc003ayc.3	+	4	604	c.604C>T	c.(604-606)Ctc>Ttc	p.L202F	CACNA1I_uc003ayd.3_Missense_Mutation_p.L202F|CACNA1I_uc003aye.3_Missense_Mutation_p.L117F|CACNA1I_uc003ayf.3_Missense_Mutation_p.L117F	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	202					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGTGAACCTGCTCCTGGACAC	0.567000														209			61		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121000554	121000554	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121000554G>A	uc010rzo.2	+	8	2575	c.2575G>A	c.(2575-2577)Gag>Aag	p.E859K		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	859	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGCCAGTGACGAGTTCTGTCT	0.537000														111			41		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13363829	13363829	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:13363829G>A	uc003bxv.1	-	34	4862	c.4779C>T	c.(4777-4779)acC>acT	p.T1593T		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1593					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCTGGGTGGGGGTGCACTCGC	0.622000														74			31		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119434453	119434453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:119434453C>T	uc003ede.4	+	5	622	c.545C>T	c.(544-546)tCc>tTc	p.S182F	C3orf15_uc003edc.2_Missense_Mutation_p.S182F|C3orf15_uc010hqy.2_Missense_Mutation_p.S182F|C3orf15_uc010hqz.3_Missense_Mutation_p.S120F|C3orf15_uc011bjd.2_Missense_Mutation_p.S56F|C3orf15_uc011bje.2_Missense_Mutation_p.S162F|C3orf15_uc010hra.2_5'UTR	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	182						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		AAGCACCTATCCATCCCTTCA	0.388000														227			83		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72350309	72350309	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72350309G>A	uc002jkm.4	+	17	2455	c.2317G>A	c.(2317-2319)Gag>Aag	p.E773K		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	773					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGAGAGGAAGGAGATCCTGAC	0.657000														94			34		0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	457111	457111	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:457111C>T	uc003jba.3	+	4	1282	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	396					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACGTACATGTCCACGCTCACT	0.587000														25			5		0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130488626	130488626	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130488626T>G	uc004brq.1	+	9	1435	c.1368T>G	c.(1366-1368)atT>atG	p.I456M	PTRH1_uc011mah.2_5'Flank|TTC16_uc011mai.1_Missense_Mutation_p.I443M|TTC16_uc004brr.1_Missense_Mutation_p.F354C|TTC16_uc010mxn.1_Missense_Mutation_p.I52M	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	456							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGCAGAACATTTTTGGGGCCC	0.607000														60			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179654826	179654826	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179654826C>T	uc021vsy.1	-	11	2042	c.1817G>A	c.(1816-1818)aGg>aAg	p.R606K	TTN_uc021vsz.1_Missense_Mutation_p.R560K|TTN_uc021vta.1_Missense_Mutation_p.R560K|TTN_uc021vtb.1_Missense_Mutation_p.R560K|TTN_uc002unb.2_Missense_Mutation_p.R606K|TTN_uc010frg.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	606							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)			AACTGTTTTCCTAGTTTCCTT	0.313000														49			19		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32913745	32913746	+	Missense_Mutation	DNP	CC	TT	TT	rs80358749		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:32913745_32913746CC>TT	uc001uub.1	+	10	5480_5481	c.5253_5254CC>TT	c.(5251-5256)taccat>taTTat	p.H1752Y		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1752					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GCTATTCCTACCATTCTGATGA	0.307000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				53			25		0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227400879	227400880	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:227400879_227400880GG>AA	uc001hqr.3	-	2	1254_1255	c.311_312CC>TT	c.(310-312)gcc>gTT	p.A104V	CDC42BPA_uc001hqs.3_Missense_Mutation_p.A104V|CDC42BPA_uc009xes.3_Missense_Mutation_p.A104V|CDC42BPA_uc010pvs.2_Missense_Mutation_p.A104V	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	104	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ATATTTTCATGGCAAACACTTT	0.248000														108			15		0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	169780949	169780949	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:169780949C>T	uc003map.3	+	0	69	c.69C>T	c.(67-69)atC>atT	p.I23I		NM_001034838	NP_001030010	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 3, mRNA.	0					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.I22I(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTAAGCTCATCACTGGGACCC	0.557000														39			19		0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285233	44285233	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:44285233G>A	uc010qfe.1	-	0	633	c.603C>T	c.(601-603)gcC>gcT	p.A201A						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		GTTTAGCAAGGGCCTTTTTCA	0.438000														56			11		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127613669	127613669	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:127613669G>A	uc003kuu.3	-	57	7813	c.7374C>T	c.(7372-7374)aaC>aaT	p.N2458N		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2458	EGF-like 41; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGGTGCAGAGGTTTGGCATTA	0.413000														64			21		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10538689	10538689	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10538689C>T	uc002gmq.2	-	29	4255	c.4167G>A	c.(4165-4167)gaG>gaA	p.E1389E		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1389					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CGCACTTGGCCTCCTCCAGCT	0.488000														74			59		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122769437	122769437	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:122769437C>T	uc003vkm.3	-	9	1056	c.1031_splice	c.e9+1	p.R344_splice	SLC13A1_uc010lks.3_Splice_Site_p.R220_splice	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	344						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	tttgtCTTACCTTATTGGCCC	0.413000														61			13		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306738	41306738	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:41306738G>A	uc002xkg.3	-	6	1105	c.921C>T	c.(919-921)atC>atT	p.I307I	PTPRT_uc010ggj.3_Silent_p.I307I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	307	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CATTTGGCTTGATCCACAGGT	0.552000														36			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569663	179569663	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179569663C>T	uc021vsy.1	-	100	26128	c.25903G>A	c.(25903-25905)Gac>Aac	p.D8635N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D5296N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9562	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R8634H(1)|p.R8634C(1)		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)			TCCTTTTCGTCCCTCTCTGAC	0.323000														139			44		0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88284477	88284477	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:88284477G>A	uc011lte.2	-	6	808	c.741C>T	c.(739-741)tcC>tcT	p.S247S	AGTPBP1_uc011ltc.2_Silent_p.S93S|AGTPBP1_uc011ltd.2_Silent_p.S195S|AGTPBP1_uc010mqc.3_Silent_p.S195S	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	195					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTTTCCCTAAGGATACTGAAT	0.328000														85			9		0	0	1	0	0
TMEM190	147744	broad.mit.edu	37	19	55889357	55889357	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55889357G>A	uc002qkt.1	+	4	338	c.320G>A	c.(319-321)cGg>cAg	p.R107Q		NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	Homo sapiens transmembrane protein 190 (TMEM190), mRNA.	107						integral to membrane				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GCCAAGCGCCGGGACGTGCTG	0.711000														35			13		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060279	54060279	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:54060279G>A	uc001cvr.1	-	2	864	c.297C>T	c.(295-297)acC>acT	p.T99T		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	99					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CATTTACACAGGTGACCAGAG	0.677000														41			23		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699326	17699326	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:17699326G>A	uc002rcl.1	-	0	381	c.357C>T	c.(355-357)ccC>ccT	p.P119P	RAD51AP2_uc010exn.1_Silent_p.P110P	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	119										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GACTTTGTGAGGGGGGAGACT	0.478000														66			16		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933018	43933018	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43933018C>T	uc002xnn.2	-	2	680	c.493G>A	c.(493-495)Ggc>Agc	p.G165S	MATN4_uc002xnp.2_Missense_Mutation_p.G165S|MATN4_uc002xno.2_Missense_Mutation_p.G165S|MATN4_uc010zwr.1_Missense_Mutation_p.G113S|MATN4_uc002xnr.1_Missense_Mutation_p.G165S|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	165	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ATTTCAATGCCGCGGGCGCGC	0.721000														22			5		0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67406248	67406248	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:67406248G>A	uc002lkl.3	+	5	844	c.647G>A	c.(646-648)gGa>gAa	p.G216E		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	216	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				ACAAGGGAAGGAGAAATGATC	0.443000														123			45		0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85577343	85577343	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:85577343G>A	uc002spd.3	-	3	810	c.619C>T	c.(619-621)Cat>Tat	p.H207Y	RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Missense_Mutation_p.H146Y	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	207					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	AGGATGGCATGAGGGGCTCCA	0.562000														59			14		0	0	1	0	0
SEMA4B	10509	broad.mit.edu	37	15	90768248	90768248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90768248C>T	uc002boy.3	+	10	1526	c.1243C>T	c.(1243-1245)Ctc>Ttc	p.L415F	SEMA4B_uc002boz.3_Missense_Mutation_p.L415F|SEMA4B_uc010uqd.2_Missense_Mutation_p.L253F|SEMA4B_uc002bpa.3_Missense_Mutation_p.L253F	NM_020210	NP_945119			Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B (SEMA4B), transcript variant 1, mRNA.											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			ATCCCTGCAGCTCCCAGACCG	0.627000														96			27		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126784913	126784913	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:126784913C>T	uc003kuh.4	+	23	3342	c.2980_splice	c.e23+1	p.G994_splice	MEGF10_uc003kui.4_Splice_Site_p.G994_splice	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	994	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TCAACGAGCTCGGTGAGTTCT	0.532000														68			34		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101350846	101350846	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:101350846C>T	uc010txj.1	-	0	339	c.280G>A	c.(280-282)Gac>Aac	p.D94N	MIR432_uc021sce.1_Non-coding_Transcript|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	94										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGGAGTAGGTCATTGGGTGGA	0.532000														56			40		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98555693	98555693	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:98555693C>T	uc003upp.3	+	42	6509	c.6300C>T	c.(6298-6300)ttC>ttT	p.F2100F	TRRAP_uc011kis.2_Silent_p.F2082F|TRRAP_uc003upr.3_Silent_p.F1799F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2100	Interaction with TP53.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTGAACTTCCTTATCCGCG	0.567000														33			12		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236925888	236925888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:236925888C>T	uc001hyf.2	+	20	2858	c.2654C>T	c.(2653-2655)tCt>tTt	p.S885F	ACTN2_uc001hyg.2_Missense_Mutation_p.S677F|ACTN2_uc009xgi.1_Missense_Mutation_p.S885F|ACTN2_uc010pxu.1_Missense_Mutation_p.S574F	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	885					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCTGCGTTCTCTTCCGCACTC	0.567000														39			11		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189068247	189068247	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:189068247C>T	uc003izm.1	+	5	1243	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	TRIML1_uc003izn.1_Silent_p.F100F	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	376	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGGACCTGTTCTCACTAATAG	0.527000														111			21		0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642053	127642053	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:127642053C>T	uc010hsr.3	+	0	152	c.149C>T	c.(148-150)gCt>gTt	p.A50V	KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_5'Flank|KBTBD12_uc003ejz.2_Missense_Mutation_p.A50V	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	50	BTB.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTGGTCCTGGCTGCATTTAGC	0.393000														47			21		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159654305	159654305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:159654305C>T	uc010kjv.3	+	10	2961	c.2761C>T	c.(2761-2763)Cgg>Tgg	p.R921W	FNDC1_uc010kjw.1_Missense_Mutation_p.R806W	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	921						extracellular region		p.R921Q(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAGCCTGCATCGGAAGGAACC	0.602000														28			8		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161021355	161021355	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161021355C>T	uc001fxl.3	-	9	1515	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	ARHGAP30_uc001fxk.3_Missense_Mutation_p.R390Q|ARHGAP30_uc001fxm.3_Missense_Mutation_p.R236Q|ARHGAP30_uc009wtx.3_Missense_Mutation_p.R63Q|ARHGAP30_uc001fxn.1_Missense_Mutation_p.R236Q	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	390					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCGCCCAGCTCGTGGTGTGCC	0.602000														77			38		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32752402	32752402	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:32752402G>A	uc001utx.3	+	20	3006	c.2510G>A	c.(2509-2511)aGc>aAc	p.S837N	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	837					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GATGTGAAAAGCCCTTCCCAT	0.512000														131			13		0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233410387	233410387	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233410387C>A	uc002vsx.1	+	11	1536	c.1515C>A	c.(1513-1515)ttC>ttA	p.F505L	CHRNG_uc010fye.1_Missense_Mutation_p.F453L	NM_005199	NP_005190	P07510	ACHG_HUMAN	Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.	505					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCCTGCCATTCCCTGGAGATC	0.607000														80			8		0.00829132	0.00829512	1	1	0
ZFPM2	23414	broad.mit.edu	37	8	106815429	106815429	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:106815429G>A	uc003ymd.3	+	7	3142	c.3119G>A	c.(3118-3120)gGa>gAa	p.G1040E	ZFPM2_uc011lhs.2_Missense_Mutation_p.G771E	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	1040					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R1039R(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAAAATCGAGGAATGGTAATA	0.473000														47			7		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46851304	46851304	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46851304C>T	uc003oyo.3	-	5	893	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	GPR116_uc003oyp.3_Missense_Mutation_p.E202K|GPR116_uc003oyq.3_Missense_Mutation_p.E202K|GPR116_uc003oyr.2_Missense_Mutation_p.E202K	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	202	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ACCGCTGTTTCCAAGTCGGTC	0.448000														29			12		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2430192	2430192	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:2430192C>T	uc001aji.1	+	17	2630	c.2356C>T	c.(2356-2358)Ccc>Tcc	p.P786S	PLCH2_uc010nyz.2_Missense_Mutation_p.P575S|PLCH2_uc009vle.1_Missense_Mutation_p.P539S|PLCH2_uc001ajj.1_Missense_Mutation_p.P575S|PLCH2_uc001ajk.1_Missense_Mutation_p.P575S|PLCH2_uc001ajl.1_5'UTR	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	787	C2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			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)		GATCATCGACCCCTTTGTGGA	0.687000														15			6		0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079984	31079984	+	Missense_Mutation	SNP	G	A	A	rs139732921		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31079984G>A	uc003nsk.1	-	1	152	c.152C>T	c.(151-153)tCc>tTc	p.S51F	PSORS1C1_uc003nsl.2_5'Flank|PSORS1C1_uc010jsj.2_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	51										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GCCAGTGGAGGAAGGTTGTCC	0.567000														98			37		0	0	1	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6939829	6939829	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrY:6939829G>A	uc004frb.3	+	11	1499	c.852G>A	c.(850-852)tgG>tgA	p.W284*	TBL1Y_uc004frc.3_Nonsense_Mutation_p.W284*|TBL1Y_uc004frd.3_Nonsense_Mutation_p.W284*|TBL1Y_uc011nap.2_Nonsense_Mutation_p.W126*	NM_033284	NP_599021	Q9BQ87	TBL1Y_HUMAN	Homo sapiens transducin (beta)-like 1, Y-linked (TBL1Y), transcript variant 1, mRNA.	284					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						CTCTGAAATGGAACAAAAAGG	0.383000														14			6		0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179563498	179563498	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:179563498G>A	uc003mlq.3	-	2	615	c.318C>T	c.(316-318)ttC>ttT	p.F106F	RASGEF1C_uc003mlr.3_Silent_p.F106F|RASGEF1C_uc003mlp.4_5'UTR	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	106	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTTGGGGCCGAACTTCCGGA	0.682000														5			4		0	0	1	0	0
GATM	2628	broad.mit.edu	37	15	45656180	45656180	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45656180G>A	uc001zvc.3	-	7	1406	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S	GATM_uc001zvb.3_Silent_p.S230S|GATM_uc010uev.1_Silent_p.S412S	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	359					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	AGACATTCATGGAAAGCCATT	0.358000														68			33		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77257578	77257578	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77257578C>T	uc004aji.3	+	3	566	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	RORB_uc004ajh.3_Nonsense_Mutation_p.Q162*	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	173	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.Q162*(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CGATTCCGGTCAGCCGTCCCC	0.507000														32			18		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21178778	21178778	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:21178778G>A	uc001iqi.3	-	2	651	c.254C>T	c.(253-255)tCt>tTt	p.S85F	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	85					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCTTACCTCAGAAATAAAAGC	0.308000														58			25		0	0	1	0	0
VRK3	51231	broad.mit.edu	37	19	50504104	50504104	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50504104G>A	uc002prg.2	-	5	653	c.555C>T	c.(553-555)ccC>ccT	p.P185P	VRK3_uc002prh.1_Silent_p.P185P|VRK3_uc002pri.1_Silent_p.P135P|VRK3_uc010ens.2_Silent_p.P185P|VRK3_uc010ybl.1_Silent_p.P135P|VRK3_uc010ybm.1_Missense_Mutation_p.P5L|VRK3_uc002prk.2_Silent_p.P185P|VRK3_uc010ent.2_5'UTR|VRK3_uc002prl.3_Silent_p.P185P|VRK3_uc010ybn.1_Silent_p.P185P	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	Homo sapiens vaccinia related kinase 3 (VRK3), transcript variant 1, mRNA.	185	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGGTGGAGGTGGGTGCAGCTG	0.572000														26			6		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71730343	71730343	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71730343G>A	uc010fen.3	+	4	381	c.240_splice	c.e4-1	p.R80_splice	DYSF_uc010fei.3_Splice_Site_p.R79_splice|DYSF_uc010feh.3_Splice_Site_p.R79_splice|DYSF_uc002sig.4_Splice_Site_p.R79_splice|DYSF_uc010yqx.2_Splice_Site|DYSF_uc010feg.3_Splice_Site_p.R79_splice|DYSF_uc010fee.3_Splice_Site_p.R79_splice|DYSF_uc010fef.3_Splice_Site_p.R79_splice|DYSF_uc002sie.3_Splice_Site_p.R79_splice|DYSF_uc010feo.3_Splice_Site_p.R80_splice|DYSF_uc010fej.3_Splice_Site_p.R80_splice|DYSF_uc010fel.3_Splice_Site_p.R80_splice|DYSF_uc010fem.3_Splice_Site_p.R80_splice|DYSF_uc002sif.3_Splice_Site_p.R80_splice|DYSF_uc010fek.3_Splice_Site_p.R80_splice	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	79	C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCTCCTCTCAGGTTCCTGGGG	0.597000														168			63		0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155931555	155931555	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155931555G>A	uc001fmu.2	-	14	1752	c.1497C>T	c.(1495-1497)acC>acT	p.T499T	ARHGEF2_uc001fmr.2_Silent_p.T427T|ARHGEF2_uc001fms.2_Silent_p.T454T|ARHGEF2_uc001fmt.2_Silent_p.T455T|ARHGEF2_uc010pgt.1_Silent_p.T428T|ARHGEF2_uc010pgu.1_Silent_p.T500T	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	455	PH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGGCACTGGGGTTTGGGCCC	0.602000														60			21		0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108541781	108541781	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108541781G>A	uc003dxi.1	+	1	151	c.7_splice	c.e1+1	p.G3_splice	TRAT1_uc010hpx.1_Splice_Site_p.D3_splice	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	3					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AAGCATGTCAGGTAAGTGGCA	0.313000														128			39		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782274	54782274	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54782274G>A	uc002qfb.3	-	6	1364	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.L366L|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.L366L|LILRB2_uc010yet.2_Silent_p.L250L|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	366	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATCTTAGACGGAGTGGGGCAT	0.572000														154			55		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724283	7724283	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:7724283C>T	uc001aoi.3	+	8	1883	c.1676C>T	c.(1675-1677)tCc>tTc	p.S559F		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCAGCCAGCTCCCTCACCCTG	0.662000			T	WWTR1	epitheliod hemangioendothelioma									66			21		0	0	1	0	0
AZGP1	563	broad.mit.edu	37	7	99566032	99566032	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99566032C>T	uc003ush.3	-	2	451	c.359G>A	c.(358-360)aGg>aAg	p.R120K		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	120					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)					ACAACCAAACCTTCCCTGCAA	0.433000														410			40		0	0	1	0	0
ERP27	121506	broad.mit.edu	37	12	15090909	15090909	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:15090909C>T	uc001rco.3	-	1	193	c.172G>A	c.(172-174)Gtg>Atg	p.V58M		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA.	58	Thioredoxin.					endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						ATGACAGCCACCTCAGTGGCA	0.532000														143			33		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77286708	77286708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77286708G>A	uc004aji.3	+	8	1197	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	RORB_uc004ajh.3_Missense_Mutation_p.R372Q	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	383	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCATCAGACCGAGCCTGGCTT	0.408000														52			18		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66462294	66462294	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:66462294G>A	uc021xzk.1	+	28	7595	c.7287G>A	c.(7285-7287)acG>acA	p.T2429T	MAST4_uc003jut.2_Silent_p.T2240T|MAST4_uc003juw.3_Silent_p.T2168T|MAST4_uc003jux.3_5'UTR	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2432						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCCACCGACGGAGGCAGACA	0.662000											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		8			6		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73043362	73043362	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:73043362A>G	uc003pga.3	+	28	4267	c.4190A>G	c.(4189-4191)aAg>aGg	p.K1397R	RIMS1_uc011dyb.2_Missense_Mutation_p.K794R|RIMS1_uc003pgc.3_Missense_Mutation_p.K846R|RIMS1_uc010kaq.3_Missense_Mutation_p.K717R|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Intron|RIMS1_uc011dyd.2_Intron|RIMS1_uc003pge.3_Missense_Mutation_p.K437R|RIMS1_uc003pgf.3_Missense_Mutation_p.K397R|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Missense_Mutation_p.K463R|RIMS1_uc011dye.2_Missense_Mutation_p.K203R|RIMS1_uc011dyf.2_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1397	Ser-rich.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCCATCATGAAGAGCACCAGT	0.448000														9			3		0	0	1	0	0
GNL2	29889	broad.mit.edu	37	1	38034744	38034744	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:38034744G>A	uc001cbk.3	-	12	1739	c.1576C>T	c.(1576-1578)Ctc>Ttc	p.L526F		NM_013285	NP_037417	Q13823	NOG2_HUMAN	Homo sapiens guanine nucleotide binding protein-like 2 (nucleolar) (GNL2), mRNA.	526					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				ACTCGTGTGAGAATCTGCTGC	0.473000														81			36		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122854132	122854132	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:122854132G>A	uc003ieg.2	-	1	355	c.281C>T	c.(280-282)gCt>gTt	p.A94V	TRPC3_uc010inr.2_Missense_Mutation_p.A21V|TRPC3_uc003ief.2_Missense_Mutation_p.A21V|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	9					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCCCCTGACAGCCTGGCGCCG	0.607000														50			7		0	0	1	0	0
GPR87	53836	broad.mit.edu	37	3	151012587	151012587	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151012587G>A	uc003eyt.2	-	2	808	c.447C>T	c.(445-447)gaC>gaT	p.D149D	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.	149						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACATCCGAGAGTCCCCAAATG	0.418000														62			13		0	0	1	0	0
FRZB	2487	broad.mit.edu	37	2	183731065	183731065	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:183731065G>A	uc002upa.2	-	0	434	c.216C>T	c.(214-216)ttC>ttT	p.F72F		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	Homo sapiens frizzled-related protein (FRZB), mRNA.	72	FZ.				Wnt receptor signaling pathway|brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GCAGACCTTCGAACTGCTCGA	0.602000														46			26		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380736	147380736	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:147380736C>T	uc021ovm.1	+	0	654	c.654C>T	c.(652-654)ttC>ttT	p.F218F	GJA8_uc001epu.2_Silent_p.F218F	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	218					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGTCCCTATTCCTCAACGTGA	0.592000														69			23		0	0	1	0	0
FAM116B	414918	broad.mit.edu	37	22	50757412	50757412	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50757412G>A	uc011arv.1	-	1	270	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA.	66										endometrium(1)|kidney(1)|lung(2)|skin(1)	5		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTGAGCCGGAAGTCGTTCG	0.577000														7			10		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20849204	20849204	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20849204G>A	uc001vxe.3	-	33	4688	c.4648_splice	c.e33-1	p.L1550_splice	TEP1_uc010ahk.3_Splice_Site_p.L893_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.L1442_splice|TEP1_uc010tlh.1_Splice_Site	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1550					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCGCTCTGGAGCTGAGAAGGT	0.517000														32			9		0	0	1	0	0
C5orf25	375484	broad.mit.edu	37	5	175764149	175764149	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:175764149G>A	uc003mds.4	+	11	2763	c.2356_splice	c.e11+1	p.E786_splice	C5orf25_uc003mdr.3_Splice_Site|C5orf25_uc003mdt.4_Splice_Site_p.E371_splice|C5orf25_uc003mdv.3_Splice_Site_p.E247_splice			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	786												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		TGTTTTAAGAGGTAAGGAGCA	0.403000														112			24		0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54951462	54951462	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:54951462C>T	uc004dtq.3	+	5	1553	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	TRO_uc004dts.3_Silent_p.F482F|TRO_uc004dtr.3_Silent_p.F482F|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Silent_p.F85F|TRO_uc011mok.2_Silent_p.F13F|TRO_uc004dtw.3_Silent_p.F85F|TRO_uc004dtx.3_5'UTR|SNORA11_uc022bxj.1_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	482	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATGAATATTTCCCAGAAATCA	0.502000														10			15		0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111861848	111861848	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111861848G>A	uc001eas.3	+	9	1179	c.1022G>A	c.(1021-1023)aGc>aAc	p.S341N	CHIA_uc001ear.3_Missense_Mutation_p.S233N|CHIA_uc001eaq.3_Missense_Mutation_p.S233N|CHIA_uc009wgc.3_Missense_Mutation_p.S233N|CHIA_uc001eat.3_Missense_Mutation_p.S180N|CHIA_uc001eav.3_Missense_Mutation_p.S180N|CHIA_uc001eau.3_Missense_Mutation_p.S180N|CHIA_uc009wgd.3_Missense_Mutation_p.S180N	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	341					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		AACATCAAGAGCTTCGATATT	0.478000														71			27		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79387423	79387423	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:79387423C>T	uc001diq.4	-	8	1288	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	378	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCATGGTATCAGGTGAGTAA	0.403000														99			14		0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84796646	84796646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84796646C>T	uc010voe.2	+	9	1869	c.1618C>T	c.(1618-1620)Cat>Tat	p.H540Y	USP10_uc002fii.3_Missense_Mutation_p.H536Y|USP10_uc010vof.2_Missense_Mutation_p.H98Y|USP10_uc002fij.3_Missense_Mutation_p.H62Y	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	536					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						AAATGGACTTCATGAGGAAAT	0.408000														137			38		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11725328	11725328	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:11725328G>A	uc002rbk.1	+	7	1243	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	GREB1_uc002rbl.3_Missense_Mutation_p.G315R|GREB1_uc002rbn.1_Missense_Mutation_p.G315R	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	315						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACGCCACAAAGGGTGGTCTCC	0.502000														26			15		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515037	233515037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233515037G>A	uc001hvt.4	+	8	2546	c.2285G>A	c.(2284-2286)gGa>gAa	p.G762E	KIAA1804_uc001hvu.4_Missense_Mutation_p.G208E	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	762					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				AAACGAGAGGGAATCTTCCAG	0.602000														81			21		0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54363639	54363639	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:54363639C>T	uc002lgk.1	+	11	1735	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	WDR7_uc010dpk.1_Intron|WDR7_uc002lgl.1_Silent_p.F508F	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	508										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AACATATCTTCTGTGTTCATG	0.363000														103			33		0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117876	20117876	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:20117876G>A	uc002noq.3	-	3	558	c.435C>T	c.(433-435)ttC>ttT	p.F145F	ZNF682_uc002noo.3_Silent_p.F113F|ZNF682_uc002nop.3_Silent_p.F113F|ZNF682_uc010eck.3_Silent_p.F69F	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TATTATATGGGAAAATTTTGC	0.308000														44			20		0	0	1	0	0
FBP2	8789	broad.mit.edu	37	9	97355969	97355969	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:97355969G>A	uc004auv.3	-	0	107	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L		NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	14					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TAGCGGGTCAGGGTGAGCATG	0.552000														51			12		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21715852	21715852	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21715852C>T	uc001rfb.3	-	7	1317	c.1062_splice	c.e7+1	p.R354_splice		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	354					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCTTTCTTACCCTCAGCAGGA	0.383000														156			24		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62026827	62026827	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62026827G>A	uc002jds.1	-	14	2992	c.2915C>T	c.(2914-2916)cCc>cTc	p.P972L		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	972					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CTCCTCGGGGGGCTTGTAGTC	0.642000														17			4		0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13125237	13125237	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:13125237G>A	uc010mia.1	-	33	4842	c.4785C>T	c.(4783-4785)tcC>tcT	p.S1595S	MPDZ_uc003zky.4_Silent_p.S157S|MPDZ_uc010mib.3_Silent_p.S300S|MPDZ_uc010mhx.3_Silent_p.S417S|MPDZ_uc011lmm.2_Silent_p.S454S|MPDZ_uc003zkz.4_Silent_p.S288S|MPDZ_uc010mhz.3_Silent_p.S1562S|MPDZ_uc011lmn.2_Silent_p.S1562S|MPDZ_uc010mhy.3_Silent_p.S1595S|MPDZ_uc003zlb.4_Silent_p.S1595S	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1595					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCGGTTCTGGGGAGCCAGACT	0.547000														47			24		0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187416366	187416366	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:187416366G>A	uc003fro.1	-	1	1027	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA.	200					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	p.R200C(2)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		AGGCACCAGCGAAGAGACAAG	0.592000														72			16		0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15562664	15562664	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15562664C>T	uc002nbe.2	-	17	3064	c.2978G>A	c.(2977-2979)gGg>gAg	p.G993E	WIZ_uc002nbb.4_5'Flank|RASAL3_uc002nbd.3_3'UTR	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	993					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						ACTCCAAGACCCCCGCGTCCT	0.607000														57			30		0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342696	29342696	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29342696G>A	uc003nme.3	-	0	373	c.369C>T	c.(367-369)gcC>gcT	p.A123A		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GATTGCAGATGGCAACAAAAC	0.488000														56			10		0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116631459	116631459	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:116631459G>T	uc003yny.3	-	2	1444	c.866C>A	c.(865-867)tCc>tAc	p.S289Y	TRPS1_uc011lhy.2_Missense_Mutation_p.S280Y|TRPS1_uc003ynz.3_Missense_Mutation_p.S276Y|TRPS1_uc010mcy.3_Missense_Mutation_p.S276Y	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	276					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAAGTCTTTGGAATGGCTGAA	0.468000									Langer-Giedion syndrome					38			28		1.74197e-06	1.74542e-06	1	1	0
TSPYL1	7259	broad.mit.edu	37	6	116599704	116599704	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:116599704C>T	uc003pwp.4	-	0	1577	c.1290G>A	c.(1288-1290)agG>agA	p.R430R	DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'Flank|DSE_uc003pwr.3_5'Flank|DSE_uc003pws.3_5'Flank	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN	Homo sapiens TSPY-like 1 (TSPYL1), mRNA.	430					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		ACCCAAAGGGCCTGGGGATCT	0.552000														49			15		0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5890243	5890243	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:5890243G>A	uc002kmx.1	-	0	1861	c.1820C>T	c.(1819-1821)tCt>tTt	p.S607F		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	607						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TATGGCATGAGACCTGGAAAT	0.547000														100			38		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179447116	179447116	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179447116C>T	uc021vsy.1	-	262	58588	c.58363G>A	c.(58363-58365)Ggc>Agc	p.G19455S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G13150S|TTN_uc021vta.1_Missense_Mutation_p.G13083S|TTN_uc021vtb.1_Missense_Mutation_p.G12958S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20382	Fibronectin type-III 41.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E19455*(1)		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)			TACTCATGGCCCTCTATAAGT	0.453000														44			19		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104640107	104640107	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:104640107G>A	uc001yos.4	+	9	1932	c.1932G>A	c.(1930-1932)agG>agA	p.R644R		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	644	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CGGCTGGCAGGGCCGGGGAGG	0.667000														18			12		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969584	47969584	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47969584G>A	uc010ele.3	-	0	93	c.77C>T	c.(76-78)cCc>cTc	p.P26L	SLC8A2_uc002pgx.3_Missense_Mutation_p.P26L|SLC8A2_uc010xyq.2_Intron|SLC8A2_uc010xyr.2_Intron			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	26					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CGGCAGGGAGGGGGTTGGGGT	0.736000														4			4		0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109017754	109017754	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:109017754C>T	uc010sxe.2	-	1	555	c.378G>A	c.(376-378)ggG>ggA	p.G126G	SELPLG_uc001tni.3_Silent_p.G110G|SELPLG_uc021rdm.1_Silent_p.G110G|SELPLG_uc001tnh.3_Silent_p.G110G	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	110	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TGGACAGGTTCCCCATGTTGG	0.607000														50			27		0	0	1	0	0
SFN	2810	broad.mit.edu	37	1	27190435	27190435	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27190435G>A	uc010ofi.1	-	0		c.15C>T			BC016143_uc021ojq.1_Intron|SFN_uc001bnc.1_Silent_p.Q244Q			P31947	1433S_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100016887 3' read SFN mRNA.						DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGGCTCCCCAGGAGCCCCAGA	0.677000														36			20		0	0	1	0	0
GSTA3	2940	broad.mit.edu	37	6	52764807	52764807	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:52764807T>A	uc003pbb.3	-	4	418	c.339A>T	c.(337-339)cgA>cgT	p.R113R	GSTA3_uc010jzq.3_Silent_p.R57R	NM_000847	NP_000838	Q16772	GSTA3_HUMAN	Homo sapiens glutathione S-transferase alpha 3 (GSTA3), mRNA.	113	GST C-terminal.		R -> Q.	RP -> PA (in Ref. 1; AAA74634).	glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.R113*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTTCCTCAGGTCGACATAAGG	0.393000														223			103		0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39884112	39884112	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:39884112C>T	uc003axv.4	+	1	999	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	MGAT3_uc010gxy.3_Missense_Mutation_p.R254W	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	254					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	p.R254L(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCTCAAGTTCCGGGAGATGCT	0.642000														72			27		0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79514186	79514186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:79514186G>A	uc002kaq.3	-	4	1995	c.1922C>T	c.(1921-1923)cCc>cTc	p.P641L	C17orf70_uc002kao.1_Missense_Mutation_p.P290L|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.P490L	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	641					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCTGCTCAGGGGCAGGCAAAC	0.692000														88			21		0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169711903	169711903	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169711903G>A	uc002ueg.3	+	10	1163	c.897G>A	c.(895-897)aaG>aaA	p.K299K	NOSTRIN_uc002uef.3_Silent_p.K356K|NOSTRIN_uc002ueh.3_Silent_p.K221K|NOSTRIN_uc010fpu.3_Silent_p.K271K|NOSTRIN_uc002uek.3_5'Flank	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	299					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AGAGACGAAAGTCTTTACTAA	0.388000														66			10		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27801613	27801613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27801613G>A	uc002rkz.4	+	0	2225	c.2174G>A	c.(2173-2175)gGg>gAg	p.G725E		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	725										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TTACAAGTAGGGACTGACTTC	0.428000														88			37		0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55080480	55080480	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55080480G>A	uc001cxn.3	-	3	600	c.468C>T	c.(466-468)ctC>ctT	p.L156L	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	156						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GCTGCCGCAGGAGGTCCAGGG	0.552000														52			14		0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43907535	43907535	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:43907535C>T	uc010dap.3	+	6	862	c.597C>T	c.(595-597)ttC>ttT	p.F199F	CRHR1_uc010wjx.2_5'UTR|CRHR1_uc002ijp.3_Silent_p.F69F|CRHR1_uc002ijm.3_Silent_p.F170F|CRHR1_uc002ijn.3_Silent_p.F130F|CRHR1_uc010dar.3_Silent_p.F170F|CRHR1_uc010dao.3_Silent_p.F69F|CRHR1_uc010daq.3_Intron|CRHR1_uc021tyu.1_5'UTR|CRHR1_uc010das.1_Non-coding_Transcript|CRHR1_uc002ijo.1_Non-coding_Transcript	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	199					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCACCTGGTTCGTGGTCCAGC	0.632000														34			25		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118360862	118360862	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118360862C>T	uc001pta.3	+	12	4617	c.4594C>T	c.(4594-4596)Cgc>Tgc	p.R1532C	MLL_uc001ptb.3_Missense_Mutation_p.R1532C|MLL_uc001pte.1_Non-coding_Transcript	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1532					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAAGTGTGTTCGCTGTAAGAG	0.383000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									52			14		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14832636	14832636	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:14832636C>T	uc001rcd.3	-	5	922	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	GUCY2C_uc009zhz.2_Missense_Mutation_p.R262Q	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	262					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	p.R262L(2)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGCCACTGCTCGGTCACCCTT	0.418000														99			40		0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	11	11373680	11373680	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:11373680C>T	uc001mjp.3	-	0	1225	c.987G>A	c.(985-987)aaG>aaA	p.K329K	GALNTL4_uc001mjo.2_Intron	NM_177559	NP_808227	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	329					Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GAGCCTGGTCCTTCACAACAG	0.542000														96			25		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48164723	48164723	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:48164723C>T	uc002efc.1	-	7	1558	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.A404A	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	404						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GAGAGACATTCGCTTCAGCCA	0.423000														40			20		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892569	166892569	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166892569C>T	uc002udo.4	-	17	3645	c.3418G>A	c.(3418-3420)Gaa>Aaa	p.E1140K	SCN1A_uc010fpk.3_Missense_Mutation_p.E1112K|SCN1A_uc021vsb.1_Missense_Mutation_p.E1129K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1140						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTTTGCTTTCTTCCAGATCC	0.358000														116			33		0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42320605	42320605	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:42320605G>A	uc003xpe.3	-	3	803	c.434C>T	c.(433-435)gCt>gTt	p.A145V	SLC20A2_uc010lxl.3_Missense_Mutation_p.A145V|SLC20A2_uc010lxm.3_Missense_Mutation_p.A145V	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	145					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|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;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAACCAAGAAGCAACTGAATA	0.308000														42			4		0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121447	50121447	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50121447C>T	uc001jhd.3	-	0	834	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.E252K	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	252						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTCCAGTCTTCCCAGGAGTCC	0.547000														145			72		0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129915067	129915067	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:129915067G>A	uc003vpq.3	+	5	584	c.565G>A	c.(565-567)Gca>Aca	p.A189T	CPA2_uc011kpc.1_Missense_Mutation_p.A189T	NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	189					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					ACAAGCTACGGCACTTTGGAC	0.502000														45			11		0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294748	124294748	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124294748G>A	uc010sak.2	-	0	20	c.20C>T	c.(19-21)tCc>tTc	p.S7F		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S7F(2)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		AGTCACTGAGGAGCTGTTTCT	0.483000														44			10		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470832	10470832	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10470832G>A	uc003wtc.3	-	3	1005	c.776C>T	c.(775-777)cCg>cTg	p.P259L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	259					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)		GATCACACTCGGCTTGGTCTT	0.602000														59			29		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692569	135692569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:135692569G>A	uc003lbn.2	-	1	729	c.507C>T	c.(505-507)atC>atT	p.I169I	TRPC7_uc010jef.2_Silent_p.I160I|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.I169I|TRPC7_uc010jei.2_Silent_p.I169I	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	169					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCGCCGCCAGGATGATGGGCG	0.632000														161			65		0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765398	171765398	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:171765398G>A	uc003mbr.3	-	12	2882	c.2711C>T	c.(2710-2712)tCc>tTc	p.S904F		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	904	SH3 4.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGATAGTTGGAAGGAATCCA	0.547000														95			30		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984100	85984100	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:85984100C>T	uc010qmc.2	-	1	889	c.881G>A	c.(880-882)aGa>aAa	p.R294K	LRIT2_uc001kcy.3_Missense_Mutation_p.R294K	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	294	Ig-like.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						ATCAAATTCTCTCCACATACT	0.512000														41			5		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480800	140480800	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140480800G>A	uc003lio.3	+	0	567	c.567G>A	c.(565-567)agG>agA	p.R189R	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	189	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGACGGAAGGAAGTACCCGG	0.567000														82			23		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317955	31317955	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:31317955G>A	uc003jhe.2	+	10	2166	c.1806G>A	c.(1804-1806)gcG>gcA	p.A602A	CDH6_uc003jhd.2_Silent_p.A602A	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	602	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCTGCCATGCGGAGGCGCTCA	0.572000														48			19		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113549986	113549986	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113549986C>T	uc022blv.1	+	13	1929	c.1795C>T	c.(1795-1797)Ccc>Tcc	p.P599S	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.P510S|MUSK_uc022blu.1_Missense_Mutation_p.P500S	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	599	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGGCTTACTTCCCTATGAACC	0.443000														23			9		0	0	1	0	0
ZNF572	137209	broad.mit.edu	37	8	125989084	125989084	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:125989084G>A	uc003yrr.3	+	2	729	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CCAGTGTGGTGAATGTGGGAA	0.443000										HNSCC(60;0.17)				81			40		0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922231	159922231	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159922231C>T	uc001fus.3	-	2	602	c.485G>A	c.(484-486)gGc>gAc	p.G162D	SLAMF9_uc009wtd.3_Intron|SLAMF9_uc001fut.3_Intron	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	162	Ig-like C2-type.					integral to membrane		p.G162D(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATATCCATGCCTGCCTTCTC	0.577000														98			65		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54798336	54798336	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:54798336G>A	uc003dhf.3	+	12	1386	c.1338G>A	c.(1336-1338)caG>caA	p.Q446Q	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.Q352Q|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.Q180Q	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	446						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TCATCGACCAGGAGCATGATG	0.512000														74			39		0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11052763	11052763	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:11052763G>A	uc002rax.3	+	0	701	c.211G>A	c.(211-213)Gac>Aac	p.D71N		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	71						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CGACGACTACGACCCCGGCAA	0.597000														34			18		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10996112	10996112	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:10996112C>T	uc002yis.1	-	11		c.2074G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		AGTTCGACTTCTTTGCCGCAC	0.398000														132			22		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190032	233190032	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233190032G>A	uc001hvl.2	-	24	4568	c.4333C>T	c.(4333-4335)Cga>Tga	p.R1445*	PCNXL2_uc001hvk.1_Nonsense_Mutation_p.R97*|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1445						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)				TCCAGTCCTCGAAGTTGAAAG	0.388000														27			9		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42874365	42874365	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42874365C>T	uc002otl.4	+	37	7293	c.6658C>T	c.(6658-6660)Ccg>Tcg	p.P2220S	MEGF8_uc002otm.4_Missense_Mutation_p.P1828S|MEGF8_uc002otn.4_5'UTR	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2287						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)				GCAGTGCCTCCCGCTGTTTGT	0.612000														49			17		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75051446	75051446	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:75051446C>T	uc009xrc.3	-	18	2303	c.2182G>A	c.(2182-2184)Gat>Aat	p.D728N	TTC18_uc001jty.3_Missense_Mutation_p.D728N|TTC18_uc001jtv.4_5'Flank|TTC18_uc001jtw.4_5'Flank|TTC18_uc001jtx.3_Missense_Mutation_p.D109N	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	728							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CAAGTAGCATCCTCAAAGAAA	0.393000														27			12		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207767	58207767	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:58207767G>A	uc001vhq.1	+	0	1979	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	PCDH17_uc010aec.1_Missense_Mutation_p.E363K	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	363	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGCGCTGAGCGAGGCCGCCCC	0.672000														52			21		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10263371	10263371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10263371C>T	uc002gmk.1	-	6	641	c.551G>A	c.(550-552)gGg>gAg	p.G184E		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	184	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CACAGTCTTCCCAGCCCCGGA	0.493000														32			28		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86493638	86493638	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:86493638G>A	uc003uid.3	+	5	3706	c.2607G>A	c.(2605-2607)cgG>cgA	p.R869R	GRM3_uc010lef.3_Missense_Mutation_p.G512R|GRM3_uc010leg.3_Silent_p.R741R|GRM3_uc010leh.3_Silent_p.R461R	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	869					synaptic transmission	integral to plasma membrane		p.R869R(3)		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)	GCAATGGGCGGGAAGTCCTCG	0.473000														136			39		0	0	1	0	0
PRSS37	136242	broad.mit.edu	37	7	141536293	141536293	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141536293C>T	uc003vws.2	-	4	982	c.610G>A	c.(610-612)Gga>Aga	p.G204R	PRSS37_uc011krl.2_Missense_Mutation_p.G203R|PRSS37_uc011krk.2_Missense_Mutation_p.G191R|PRSS37_uc003vwt.2_Missense_Mutation_p.G191R	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	204	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.Q203K(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						ACCTCGATTCCCTGGAGCTTG	0.498000														68			31		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24435081	24435081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24435081G>A	uc001bin.4	-	1	209	c.46C>T	c.(46-48)Ccc>Tcc	p.P16S	MYOM3_uc001bio.3_Missense_Mutation_p.P16S|MYOM3_uc001bip.1_5'Flank	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	16										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ATGGCCTGGGGGGGCCGGGGG	0.667000														5			4		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119428057	119428057	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:119428057G>A	uc001ehl.1	-	7	1104	c.789C>T	c.(787-789)tcC>tcT	p.S263S	TBX15_uc009whj.1_Silent_p.S87S	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	369						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GAGGAGAACAGGATGGAGATA	0.498000														19			7		0	0	1	0	0
POTED	317754	broad.mit.edu	37	21	15013746	15013746	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:15013746G>A	uc002yjb.1	+	10	1666	c.1614G>A	c.(1612-1614)ctG>ctA	p.L538L		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	538						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						TGCTAAGACTGGAACTAGATG	0.363000														26			25		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176905489	176905489	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176905489C>T	uc001glc.3	-	14	2607	c.2395G>A	c.(2395-2397)Gaa>Aaa	p.E799K	ASTN1_uc001glb.1_Missense_Mutation_p.E799K|ASTN1_uc001gld.1_Missense_Mutation_p.E799K|ASTN1_uc009wwx.1_Missense_Mutation_p.E799K	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	807					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCAGACACTTCACTGAAGTTC	0.488000														50			34		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9371224	9371224	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9371224G>A	uc021wam.1	+	13	1300	c.1285G>A	c.(1285-1287)Ggg>Agg	p.G429R	PLCB4_uc010gbw.1_Missense_Mutation_p.G429R|PLCB4_uc010gbx.3_Missense_Mutation_p.G429R|PLCB4_uc021wal.1_Missense_Mutation_p.G429R|PLCB4_uc002wnh.3_Missense_Mutation_p.G276R	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	429	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGATCTATTTGGGGATCTCCT	0.343000														31			15		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13052931	13052931	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:13052931G>A	uc002wod.1	+	2	620	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	111					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TCAAGACTTTGAAAATTTTTA	0.428000														154			66		0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43394917	43394917	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:43394917G>A	uc001cik.2	-	6	1461	c.936C>T	c.(934-936)ggC>ggT	p.G312G		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	312					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CGATACCGGAGCCAATGGTGG	0.587000														29			7		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898763	36898763	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36898763C>T	uc003cgj.3	-	11	2566	c.2318G>A	c.(2317-2319)tGg>tAg	p.W773*		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	773					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTGCGTGCTCCAGTCATCCTG	0.542000														297			76		0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153431438	153431438	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153431438G>A	uc001fbv.1	-	1	123	c.52C>T	c.(52-54)Cac>Tac	p.H18Y		NM_002963	NP_002954	P31151	S10A7_HUMAN	Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.	18	EF-hand 1.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGTATTTGTGAAACATGTCG	0.438000														144			54		0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6468113	6468113	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6468113C>T	uc002mfe.3	-	22	1900	c.1808G>A	c.(1807-1809)tGg>tAg	p.W603*	DENND1C_uc002mfb.3_Nonsense_Mutation_p.W153*|DENND1C_uc002mfc.3_Nonsense_Mutation_p.W153*|DENND1C_uc002mfd.3_Nonsense_Mutation_p.W153*|DENND1C_uc010xje.2_Nonsense_Mutation_p.W559*	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	603						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GTCTGGTTGCCATCTTGGTAT	0.537000														25			13		0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139089520	139089520	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139089520G>A	uc004cgz.3	-	5	979	c.860C>T	c.(859-861)gCc>gTc	p.A287V	LHX3_uc022bpm.1_3'UTR|LHX3_uc004cha.3_Missense_Mutation_p.A282V	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	282					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CCGGCCCAAGGCCTGGGTGGG	0.677000														15			4		0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	105151002	105151002	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:105151002C>T	uc001tkz.3	+	2	978	c.480C>T	c.(478-480)aaC>aaT	p.N160N	CHST11_uc001tky.3_Silent_p.N155N	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA.	160					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity	p.A159T(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						TCTCCGCCAACCTGAAGACCC	0.582000														54			17		0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38768163	38768163	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:38768163G>A	uc003tgy.3	-	26	2409	c.2383C>T	c.(2383-2385)Ctt>Ttt	p.L795F	VPS41_uc003tgz.3_Missense_Mutation_p.L770F|VPS41_uc010kxn.3_Missense_Mutation_p.L706F|VPS41_uc003tgx.3_Non-coding_Transcript	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	795					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding	p.L795P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ATAGGGGAAAGGCACGACTCA	0.403000														140			33		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233231504	233231504	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233231504G>A	uc001hvl.2	-	21	4178	c.3943C>T	c.(3943-3945)Cct>Tct	p.P1315S	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Intron|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.	1315						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)				AGGATACGAGGAATGGCAAAG	0.448000														11			6		0	0	1	0	0
FGF18	8817	broad.mit.edu	37	5	170883572	170883572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:170883572C>T	uc003mbk.3	+	4	924	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_003862	NP_003853	O76093	FGF18_HUMAN	Homo sapiens fibroblast growth factor 18 (FGF18), mRNA.	129					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGTGTGTGTTCATCGAGAAGG	0.567000														81			32		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48755478	48755478	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48755478C>T	uc002isl.3	+	24	3683	c.3603C>T	c.(3601-3603)ttC>ttT	p.F1201F	ABCC3_uc002isn.3_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1201	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GAGTGGAGTTCGTGGGGAACT	0.602000														55			55		0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080361	5080361	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5080361A>C	uc010qyw.2	-	0	497	c.497T>G	c.(496-498)tTg>tGg	p.L166W		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GGGCAACCGCAATATAAGAAG	0.423000														24			7		0	0	1	0	0
CHI3L2	1117	broad.mit.edu	37	1	111781455	111781455	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111781455C>T	uc001eam.3	+	7	890	c.819C>T	c.(817-819)ttC>ttT	p.F273F	CHI3L2_uc001ean.3_Silent_p.F263F|CHI3L2_uc001eao.3_Silent_p.F194F	NM_004000	NP_001020370	Q15782	CH3L2_HUMAN	Homo sapiens chitinase 3-like 2 (CHI3L2), transcript variant 1, mRNA.	273					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		GGCACTCCTTCACACTGGCCT	0.562000														167			64		0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70535554	70535554	+	Missense_Mutation	SNP	C	T	T	rs112767369		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:70535554C>T	uc001vip.3	-	2	1497	c.703G>A	c.(703-705)Gac>Aac	p.D235N	KLHL1_uc010thm.2_Missense_Mutation_p.D174N	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	235	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S234S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCAAAATAGTCGGAGACTGAA	0.448000														64			8		0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36538042	36538042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:36538042C>T	uc003aot.3	-	2	453	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	APOL3_uc003aoq.3_Missense_Mutation_p.E68K|APOL3_uc003aor.3_Missense_Mutation_p.E68K|APOL3_uc003aos.3_Missense_Mutation_p.E68K|APOL3_uc003aou.3_5'UTR|APOL3_uc003aov.3_5'UTR|APOL3_uc021wol.1_5'Flank	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	139					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TGCACATATTCGTCCTCAATA	0.438000														62			30		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125405466	125405466	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:125405466G>A	uc010flu.3	+	12	2372	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	CNTNAP5_uc002tno.3_Missense_Mutation_p.D669N	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	669	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGCCGTGATCGACGGCTCTGA	0.632000														19			6		0	0	1	0	0
SLC7A11	23657	broad.mit.edu	37	4	139163150	139163150	+	Missense_Mutation	SNP	G	A	A	rs140307668		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:139163150G>A	uc021xrw.1	-	0	354	c.74C>T	c.(73-75)cCt>cTt	p.P25L		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	25					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	GCCCAGGGAAGGCAGCCTCCC	0.507000														58			20		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110826853	110826853	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:110826853C>T	uc001vqw.4	-	38	3468	c.3346G>A	c.(3346-3348)Gaa>Aaa	p.E1116K		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1116	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCACCTTTTTCTCCAGGTAGC	0.483000														39			20		0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230916261	230916261	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:230916261G>A	uc001htz.1	+	10	1401	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	CAPN9_uc009xfg.1_Missense_Mutation_p.E367K|CAPN9_uc001hua.1_Missense_Mutation_p.E404K	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	430	Domain III.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TGACAAAGACGAACACCTGAA	0.517000														83			32		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31421725	31421725	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31421725T>C	uc010cap.1	+	10	1142	c.1093T>C	c.(1093-1095)Ttc>Ctc	p.F365L	ITGAD_uc002ebv.1_Missense_Mutation_p.F365L	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	365					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGATGGCCTCTTCCTGGGGGC	0.572000														86			46		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119463029	119463029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:119463029G>A	uc003ede.4	+	13	1965	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	C3orf15_uc010hqz.3_Missense_Mutation_p.E568K|C3orf15_uc011bjd.2_Missense_Mutation_p.E504K|C3orf15_uc011bje.2_Missense_Mutation_p.E610K	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	466						mitochondrion	protein binding	p.D629D(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		GGAGGAGGACGAGATATTTAA	0.562000														38			17		0	0	1	0	0
NGRN	51335	broad.mit.edu	37	15	90814604	90814604	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90814604C>T	uc002bpf.1	+	2	510	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	TTLL13_uc002bpe.1_Non-coding_Transcript|NGRN_uc002bpg.1_Missense_Mutation_p.R82W	NM_001033088	NP_001028260	Q9NPE2	NGRN_HUMAN	Homo sapiens neugrin, neurite outgrowth associated (NGRN), transcript variant 2, mRNA.	154					neuron differentiation	extracellular region|nucleus				kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GCAGCACCTCCGGGGCTCTGG	0.493000														94			20		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29121194	29121194	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29121194G>A	uc002kwu.4	+	12	2106	c.1918G>A	c.(1918-1920)Ggc>Agc	p.G640S		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	640					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TTGCGGAAAGGGCGCCAAAGG	0.428000														71			27		0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21422680	21422680	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21422680C>T	uc001rer.3	-	13	2066	c.1815G>A	c.(1813-1815)ccG>ccA	p.P605P	SLCO1A2_uc010siq.2_Silent_p.P473P|SLCO1A2_uc001res.3_Silent_p.P605P|SLCO1A2_uc010sio.2_Silent_p.P473P|SLCO1A2_uc010sip.2_Silent_p.P473P	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	605					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTAGTGCTGCCGGCAATCCGA	0.343000														102			30		0	0	1	0	0
MANEA	79694	broad.mit.edu	37	6	96053752	96053752	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:96053752C>T	uc003poo.2	+	4	1040	c.860C>T	c.(859-861)tCt>tTt	p.S287F		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.	287	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ACCTCAGGGTCTCGGAGTATT	0.383000														43			25		0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158609049	158609049	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:158609049G>A	uc010jiq.2	-	3	544	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	RNF145_uc011ddy.2_Missense_Mutation_p.R116W|RNF145_uc003lxo.2_Missense_Mutation_p.R130W|RNF145_uc011ddz.2_Missense_Mutation_p.R119W|RNF145_uc003lxp.3_Missense_Mutation_p.R102W|RNF145_uc011dea.2_Missense_Mutation_p.R118W	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	102						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTTCACTCCGAACATAGTCC	0.318000														133			31		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919366	4919366	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4919366G>A	uc001qng.3	+	0	1025	c.159G>A	c.(157-159)gaG>gaA	p.E53E	KCNA6_uc021qtr.1_Silent_p.E53E	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	53						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.F52L(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGCGCTTTGAGACACAATTGC	0.642000										HNSCC(72;0.22)				47			31		0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089247	43089247	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:43089247G>A	uc003bdb.3	-	2	972	c.711C>T	c.(709-711)ttC>ttT	p.F237F	A4GALT_uc021wqo.1_Silent_p.F237F|A4GALT_uc021wqp.1_Silent_p.F237F|A4GALT_uc010gzd.3_Silent_p.F237F|A4GALT_uc021wqq.1_Silent_p.F237F	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	237					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						AGTGGTCCACGAAGTCCCGCA	0.657000														23			7		0	0	1	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41442369	41442369	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41442369G>A	uc010ehg.1	+	2	415	c.407G>A	c.(406-408)gGg>gAg	p.G136E	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Missense_Mutation_p.G136E|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						AGGGACTTCGGGATGGGAAAG	0.562000														27			13		0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101147941	101147941	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:101147941G>A	uc010qpi.2	+	9	2909	c.2620G>A	c.(2620-2622)Gag>Aag	p.E874K	CNNM1_uc001kpp.4_Missense_Mutation_p.E853K|CNNM1_uc009xwf.3_Intron|CNNM1_uc009xwg.3_Missense_Mutation_p.E253K	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	Homo sapiens cyclin M1 (CNNM1), mRNA.	853					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		AAGCCCCAGCGAGGTAGTGTA	0.607000														59			16		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7091658	7091658	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7091658G>A	uc001mfb.1	+	10	3440	c.3117G>A	c.(3115-3117)aaG>aaA	p.K1039K		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	1039					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGTCTTGAAGTCTCCTAAGT	0.388000														60			35		0	0	1	0	0
MYC	4609	broad.mit.edu	37	8	128750684	128750684	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:128750684C>T	uc022bbe.1	+	1	746	c.176C>T	c.(175-177)cCg>cTg	p.P59L	MYC_uc003ysh.1_Missense_Mutation_p.P59L|MYC_uc003ysi.3_Missense_Mutation_p.P74L			P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	59			P -> A (in a Burkitt lymphoma sample).		branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		CTGCCCACCCCGCCCCTGTCC	0.677000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			6		0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39799066	39799066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39799066C>T	uc002okw.2	-	1	1523	c.1523G>A	c.(1522-1524)cGa>cAa	p.R508Q		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	508	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GCCCACCACTCGCGTTGCCGG	0.677000														19			7		0	0	1	0	0
SPATA9	83890	broad.mit.edu	37	5	95018270	95018270	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:95018270C>T	uc003klj.1	-	1	268	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	SPATA9_uc010jbh.1_Non-coding_Transcript|SPATA9_uc003klh.1_Non-coding_Transcript|SPATA9_uc003kli.1_Non-coding_Transcript	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	Homo sapiens spermatogenesis associated 9 (SPATA9), mRNA.	38					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		GTGGGAAATTCATCTTTAAAC	0.313000														66			23		0	0	1	0	0
GDF5OS	554250	broad.mit.edu	37	20	34021740	34021740	+	Missense_Mutation	SNP	C	T	T	rs146951838		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34021740C>T	uc002xcj.3	+	1	226	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	GDF5_uc010gfc.1_Silent_p.E491E|GDF5_uc002xck.1_Silent_p.E491E					Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds.											cervix(1)|endometrium(4)|lung(4)	9						CGACCATGTCCTCATACTGCT	0.587000														69			35		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005674	74005674	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74005674C>T	uc010wss.1	-	21	3906	c.3678G>A	c.(3676-3678)ccG>ccA	p.P1226P	EVPL_uc002jqi.2_Silent_p.P1204P|EVPL_uc010wst.1_Silent_p.P674P	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1204	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCTCTGTCTCCGGATCCACCT	0.627000														64			28		0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186944252	186944252	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:186944252C>T	uc003frh.2	-	11	1888	c.1498G>A	c.(1498-1500)Gat>Aat	p.D500N		NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	500	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGGGTCGGATCTTCCGGATCG	0.577000														15			3		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668411	176668411	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176668411C>T	uc001gkz.3	+	7	4086	c.2922C>T	c.(2920-2922)ttC>ttT	p.F974F	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	974					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTTCCTTCTTCATGGAGTCCT	0.562000														180			80		0	0	1	0	0
PEG10	23089	broad.mit.edu	37	7	94293537	94293537	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94293537C>T	uc003uno.3	+	1	1148	c.669C>T	c.(667-669)gtC>gtT	p.V223V	PEG10_uc011kie.2_Silent_p.V299V|PEG10_uc022ahn.1_Silent_p.V223V	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	223	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.V223V(2)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ACCTCGAGGTCGCCAAGTCGC	0.627000														55			48		0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37323488	37323488	+	Missense_Mutation	SNP	C	T	T	rs140013994		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:37323488C>T	uc003cgv.3	+	2	562	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	GOLGA4_uc010hgr.2_Intron|GOLGA4_uc003cgw.3_Missense_Mutation_p.R90W|GOLGA4_uc010hgs.3_Missense_Mutation_p.R68W|GOLGA4_uc003cgx.3_5'Flank|GOLGA4_uc003cgu.2_Missense_Mutation_p.R90W	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	68					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTCCAGCTCCGGGTGCCCTC	0.443000														117			14		0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203420441	203420441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:203420441C>T	uc002uzf.4	+	11	3201	c.2053C>T	c.(2053-2055)Ctc>Ttc	p.L685F	BMPR2_uc010ftr.3_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	685					BMP signaling pathway|anterior/posterior pattern formation|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TGATGAGAATCTCATGGAGCA	0.448000														81			18		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60749489	60749489	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:60749489G>A	uc002jad.3	+	7	1839	c.1437G>A	c.(1435-1437)gaG>gaA	p.E479E		NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	479	C-type lectin 2.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ACAGTCTGGAGGACTGTGTCA	0.562000														101			40		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915071	176915071	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176915071C>T	uc001glc.3	-	12	2452	c.2240G>A	c.(2239-2241)gGa>gAa	p.G747E	ASTN1_uc001glb.1_Missense_Mutation_p.G747E|ASTN1_uc001gld.1_Missense_Mutation_p.G747E|ASTN1_uc009wwx.1_Missense_Mutation_p.G747E	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	755					cell migration|neuron cell-cell adhesion	integral to membrane		p.Q743fs*11(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCTGAATGTTCCTTTCAGCAC	0.438000														133			61		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295578	29295578	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29295578G>A	uc002rmt.2	-	0	1550	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	517					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GTCAGCAGGTGAAGATTGTGG	0.542000														94			56		0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14749141	14749142	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:14749141_14749142GG>AA	uc002mzi.4	-	10	1407_1408	c.1259_1260CC>TT	c.(1258-1260)tcc>tTT	p.S420F	EMR3_uc010dzp.3_Missense_Mutation_p.S368F|EMR3_uc010xnv.2_Missense_Mutation_p.S294F	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	420					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CGGCGATGATGGAGCACAGCAC	0.589000														37			8		0	0	1	0	0
IL27	246778	broad.mit.edu	37	16	28513323	28513323	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:28513323C>T	uc002dqc.3	-	3	459	c.436G>A	c.(436-438)Gat>Aat	p.D146N	NPIPL1_uc010vct.2_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	Homo sapiens interleukin 27 (IL27), mRNA.	146					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation|regulation of defense response to virus	extracellular space	cytokine activity|interleukin-27 receptor binding	p.R145H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						CGCTGCAGATCGCGGAGGTCC	0.652000														81			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585180	179585180	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179585180C>T	uc021vsy.1	-	76	19802	c.19577G>A	c.(19576-19578)gGg>gAg	p.G6526E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3187E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7453	Ig-like 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P6525T(1)		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)			GTGATATTCCCCGACATCGGA	0.378000														105			38		0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49244174	49244174	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49244174C>T	uc002pkj.3	-	9	1592	c.1044G>A	c.(1042-1044)agG>agA	p.R348R	RASIP1_uc002pki.3_5'Flank|IZUMO1_uc010eme.3_Non-coding_Transcript|IZUMO1_uc010emf.3_Non-coding_Transcript	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	Homo sapiens izumo sperm-egg fusion 1 (IZUMO1), mRNA.	348					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTTATTGTTGCCTCGAATCTG	0.512000														33			18		0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102964006	102964006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:102964006C>T	uc001ylw.2	+	18	4257	c.4031C>T	c.(4030-4032)cCc>cTc	p.P1344L	TECPR2_uc010txx.2_Missense_Mutation_p.P507L	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	1344							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GACAAGAACCCCGCCGGGGAC	0.672000														19			6		0	0	1	0	0
C7orf62	219557	broad.mit.edu	37	7	88423588	88423588	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:88423588G>A	uc003ujv.3	-	1	851	c.669C>T	c.(667-669)ttC>ttT	p.F223F	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Silent_p.F223F	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	223										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						CCGGGTCCATGAATTCTTCGG	0.438000														69			33		0	0	1	0	0
TTC30A	92104	broad.mit.edu	37	2	178481937	178481937	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:178481937G>A	uc002ulo.3	-	0	1758	c.1493C>T	c.(1492-1494)gCt>gTt	p.A498V		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.	498					cell projection organization	cilium	binding	p.S497T(1)|p.A498T(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CAGTACAATAGCACTGACATT	0.388000														125			15		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234112908	234112908	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234112908G>A	uc010zmo.2	+	24	3178	c.3025G>A	c.(3025-3027)Gaa>Aaa	p.E1009K	INPP5D_uc010zmp.2_Missense_Mutation_p.E1008K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1038	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)		GAAGGACCAGGAATCCCCCAA	0.637000														52			16		0	0	1	0	0
TRIM61	391712	broad.mit.edu	37	4	165890967	165890967	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:165890967C>T	uc003iqw.3	-	2	799	c.188G>A	c.(187-189)aGg>aAg	p.R63K		NM_001012414	NP_001012414	Q5EBN2	TRI61_HUMAN	Homo sapiens tripartite motif containing 61 (TRIM61), mRNA.	63						intracellular	zinc ion binding			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		TATAAATTTCCTTTCTGGACA	0.453000														121			15		0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51041867	51041867	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:51041867C>T	uc003bmx.3	+	2	504	c.387C>T	c.(385-387)tcC>tcT	p.S129S	MAPK8IP2_uc003bmy.3_Silent_p.S102S|MAPK8IP2_uc011asc.2_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	129	JNK-binding domain (JBD).				MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCCCCTTCCGTGGAGGAGC	0.697000														9			6		0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89618032	89618032	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:89618032C>T	uc001dna.2	-	4	683	c.544G>A	c.(544-546)Gat>Aat	p.D182N	GBP2_uc001dmy.1_5'Flank	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	182						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AGGGTAAAATCTCGAACAGTC	0.468000														154			31		0	0	1	0	0
PSKH1	5681	broad.mit.edu	37	16	67942812	67942812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67942812G>A	uc002euv.3	+	1	330	c.160G>A	c.(160-162)Gca>Aca	p.A54T	PSKH1_uc010cet.2_Missense_Mutation_p.A54T	NM_006742	NP_006733	P11801	KPSH1_HUMAN	Homo sapiens protein serine kinase H1 (PSKH1), mRNA.	54						Golgi apparatus|endoplasmic reticulum membrane|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		CGGGTTCCCAGCAGCAAGTCA	0.602000														31			10		0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58520251	58520251	+	Splice_Site	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58520251T>A	uc003dkl.3	-	3	336	c.161_splice	c.e3-1	p.E54_splice		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	54					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TGATGCTCTCTGCAGAGGACA	0.498000														51			24		0	0	1	0	0
WNT5A	7474	broad.mit.edu	37	3	55504313	55504313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:55504313G>A	uc003dhn.3	-	4	1268	c.950C>T	c.(949-951)tCg>tTg	p.S317L	WNT5A_uc003dhm.3_Missense_Mutation_p.S302L|WNT5A_uc010hmw.3_Missense_Mutation_p.S302L|WNT5A_uc010hmx.3_Missense_Mutation_p.S228L	NM_003392	NP_003383	P41221	WNT5A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5A (WNT5A), transcript variant 1, mRNA.	317					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of BMP signaling pathway|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell chemotaxis|positive regulation of angiogenesis|positive regulation of cGMP metabolic process|positive regulation of cartilage development|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CGTGCCCAGCGAGCCGGTGCT	0.627000														44			18		0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48472032	48472032	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:48472032C>T	uc002xuv.1	+	7	837	c.627C>T	c.(625-627)ttC>ttT	p.F209F	SLC9A8_uc010zym.1_5'UTR|SLC9A8_uc010zyj.1_Silent_p.F225F|SLC9A8_uc010zyk.1_Nonsense_Mutation_p.Q198*|SLC9A8_uc010zyl.1_Nonsense_Mutation_p.Q170*|SLC9A8_uc010gib.1_Nonsense_Mutation_p.Q164*	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 8 (SLC9A8), mRNA.	209						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTGCCATTTTCAATGCACTTC	0.478000														101			42		0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271747	59271747	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59271747G>A	uc001noa.1	+	0	699	c.699G>A	c.(697-699)agG>agA	p.R233R		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G232R(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GAGGGGGCAGGAGGAAAGCCA	0.552000														166			81		0	0	1	0	0
SLC2A11	66035	broad.mit.edu	37	22	24210737	24210737	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:24210737C>T	uc011ajc.1	+	2	701	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	SLC2A11_uc002zyl.1_Silent_p.L71L|SLC2A11_uc002zym.4_Silent_p.L71L|SLC2A11_uc002zyn.4_Silent_p.L64L|SLC2A11_uc002zyo.4_Non-coding_Transcript|SLC2A11_uc011ajd.1_Silent_p.L58L|SLC2A11_uc002zyp.4_Silent_p.L67L			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	64						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						TCACCTAGTCCTGCTTATGTG	0.562000														94			16		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104170845	104170845	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104170845G>A	uc001kvg.1	-	8	2498	c.1971C>T	c.(1969-1971)ctC>ctT	p.L657L	PSD_uc001kvh.1_Silent_p.L278L|PSD_uc009xxd.1_Silent_p.L657L	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	657	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TGAGCAGCATGAGCGCACAGG	0.647000														73			14		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118372518	118372518	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118372518C>T	uc001pta.3	+	25	6465	c.6442C>T	c.(6442-6444)Ccc>Tcc	p.P2148S	MLL_uc001ptb.3_Missense_Mutation_p.P2151S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2148					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GATTCGAACACCCAGTTATTC	0.463000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									149			56		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900161	151900161	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151900161C>T	uc022chj.1	-	0	640	c.640G>A	c.(640-642)Gac>Aac	p.D214N	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.D214N|MAGEA12_uc022chi.1_Missense_Mutation_p.D214N|MAGEA12_uc004fgc.3_Missense_Mutation_p.D214N	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	214	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCACAGTCGCCCTCTTTT	0.582000														72			87		0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52604148	52604148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:52604148C>T	uc001vgb.3	+	1	1770	c.1208C>T	c.(1207-1209)tCt>tTt	p.S403F	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Missense_Mutation_p.S403F	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	403					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CATGAGGTTTCTGCAAGTGAG	0.498000														75			25		0	0	1	0	0
STAC2	342667	broad.mit.edu	37	17	37374290	37374290	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:37374290G>A	uc002hrs.3	-	1	512	c.227C>T	c.(226-228)cCt>cTt	p.P76L	STAC2_uc010cvt.3_Intron	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN	Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA.	76	Pro-rich.				intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TGGGGAGGGAGGGGGCAGTGG	0.667000														7			4		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214815813	214815813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:214815813C>T	uc001hkm.3	+	11	4306	c.4132C>T	c.(4132-4134)Cct>Tct	p.P1378S		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1475					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGAACAGCACCCTGTGTCTTT	0.408000														68			6		0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100118719	100118719	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:100118719G>A	uc010avs.3	+	1	479	c.414G>A	c.(412-414)ctG>ctA	p.L138L	HHIPL1_uc001ygl.1_Silent_p.L138L	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	138					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCTGGGCGCTGGAGGGCAACC	0.602000														58			12		0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811088	23811088	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:23811088G>A	uc001ywh.4	+	0	635	c.159G>A	c.(157-159)agG>agA	p.R53R	MKRN3_uc001ywi.3_Silent_p.R53R|MKRN3_uc010ayi.1_Silent_p.R53R	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	53						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ATGCGGCAAGGGGCTGGGCCC	0.687000														55			13		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28906923	28906923	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28906923C>T	uc002kwp.3	+	2	383	c.171C>T	c.(169-171)gcC>gcT	p.A57A		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	57	Cadherin 1.				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	p.A57T(1)		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)			TCGCAGCAGCCTGTCGTGAAG	0.398000														99			24		0	0	1	0	0
SEC1	653677	broad.mit.edu	37	19	49183940	49183940	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49183940G>A	uc010xzv.2	+	4	1087	c.960G>A	c.(958-960)gcG>gcA	p.A320A	SEC1_uc002pka.3_Silent_p.A280A|SEC1_uc010xzw.2_Silent_p.A237A|SEC1_uc010ema.3_Silent_p.A226A					Homo sapiens secretory blood group 1 (SEC1), non-coding RNA.																		TACCTGCAGCGGGCCCTGGAC	0.692000														3			3		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940807	113940807	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113940807G>A	uc002tjc.3	+	1	957	c.774G>A	c.(772-774)gaG>gaA	p.E258E	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.E257E|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	258					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.E258E(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGCTCAGAGAACAGTGCTT	0.607000														65			28		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163693182	163693182	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:163693182C>T	uc002uch.2	-	1	401	c.172G>A	c.(172-174)Gat>Aat	p.D58N	KCNH7_uc002uci.3_Missense_Mutation_p.D58N	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	58	PAS.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGCATGACATCTGGCCTGGAG	0.468000														51			34		0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29429863	29429863	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29429863G>A	uc003nmi.3	+	2	760	c.317G>A	c.(316-318)gGg>gAg	p.G106E	OR2H1_uc003nmj.1_Missense_Mutation_p.G106E|OR2H1_uc010jri.2_Missense_Mutation_p.G28E|OR2H1_uc021ytr.1_Missense_Mutation_p.G106E	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						CTGTCCCTGGGGACCACTGAG	0.587000														103			41		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2820047	2820047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2820047G>A	uc022aqr.1	-	60	9959	c.9569C>T	c.(9568-9570)tCc>tTc	p.S3190F	CSMD1_uc011kwj.2_Missense_Mutation_p.S2520F|CSMD1_uc010lrg.3_Missense_Mutation_p.S1082F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3191	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTTCTGGAGGATCCCACGAG	0.502000														30			10		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207133	58207133	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:58207133C>T	uc001vhq.1	+	0	1345	c.453C>T	c.(451-453)ttC>ttT	p.F151F	PCDH17_uc010aec.1_Silent_p.F151F	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	151	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R150C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCACCCGCTTCCCCCTCACCA	0.617000														28			10		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43508587	43508587	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43508587G>A	uc001zrb.4	-	1	465	c.165C>T	c.(163-165)gcC>gcT	p.A55A	EPB42_uc001zra.4_Silent_p.A25A|EPB42_uc010udm.2_Silent_p.A25A	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	25					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GGGAGCTGAGGGCCTTGGTGT	0.562000														95			9		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372859	24372859	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:24372859G>A	uc002dmf.3	+	3	1825	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	208					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CAGCAGTTACGAGCCAAATCC	0.488000														103			29		0	0	1	0	0
SIRT2	22933	broad.mit.edu	37	19	39384091	39384092	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39384091_39384092GG>AA	uc002ojt.2	-	3	529_530	c.188_189CC>TT	c.(187-189)acc>aTT	p.T63I	SIRT2_uc010egi.2_Missense_Mutation_p.T26I|SIRT2_uc002ojs.2_Missense_Mutation_p.T43I|SIRT2_uc002oju.2_Missense_Mutation_p.T26I|SIRT2_uc010egh.2_Missense_Mutation_p.T26I|SIRT2_uc002ojv.2_Missense_Mutation_p.T63I	NM_012237	NP_085096	Q8IXJ6	SIRT2_HUMAN	Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA.	63					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	NAD+ binding|NAD-dependent histone deacetylase activity|histone acetyltransferase binding|histone deacetylase binding|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			CCCCTTCCAAGGTCAGCTCGTC	0.614000														28			13		0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917478	26917478	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:26917478G>A	uc001wqa.3	-	5	1631	c.845C>T	c.(844-846)cCc>cTc	p.P282L	NOVA1_uc001wpy.3_Missense_Mutation_p.P404L|NOVA1_uc001wpz.3_Missense_Mutation_p.P380L	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	407	Ala-rich.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GGCAGCTAGGGGAGAAGCAGC	0.502000														52			20		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289148	107289148	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107289148G>A	uc011lvn.2	-	0	343	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATCATGCCAAGGAGGAAACAT	0.438000														123			68		0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87912231	87912231	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87912231G>A	uc022agz.1	-	3	932	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	STEAP4_uc003ujs.3_Missense_Mutation_p.R237C|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	237					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ATAGCCATACGAAATGTATTA	0.363000														99			31		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069208	6069208	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:6069208G>A	uc010ndi.3	-	1	764	c.300C>T	c.(298-300)atC>atT	p.I100I	NLGN4X_uc004crp.3_Silent_p.I100I|NLGN4X_uc010ndh.3_Silent_p.I100I|NLGN4X_uc004crq.3_Silent_p.I100I|NLGN4X_uc004crr.3_Silent_p.I100I|NLGN4X_uc010ndj.3_Silent_p.I100I	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	100					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.G99G(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TAGTATTTCGGATGCCAGTCC	0.572000														48			24		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10312885	10312885	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10312885G>A	uc002gmm.2	-	15	1703	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	536	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTCTTCCAGGATGGAGAAGA	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					55			29		0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71465309	71465309	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71465309C>T	uc003hfl.3	+	4	341	c.240C>T	c.(238-240)ctC>ctT	p.L80L		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	80					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			ACGGTCTCCTCCCACCACATT	0.373000														61			24		0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103339317	103339317	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:103339317G>A	uc001vpj.3	-	2	379	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F		NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	Homo sapiens methyltransferase like 21C (METTL21C), mRNA.	125							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						ATGGAAACAAGGCCTGGTCCG	0.388000														64			18		0	0	1	0	0
SPRED1	161742	broad.mit.edu	37	15	38591722	38591722	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:38591722C>T	uc001zka.4	+	1	516	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 1 (SPRED1), mRNA.	61	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CTTTTTTATCCGTGGAGAGCG	0.383000									Legius syndrome					65			25		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124325875	124325875	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124325875G>A	uc001uft.4	+	28	4814	c.4789G>A	c.(4789-4791)Gac>Aac	p.D1597N		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1597	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCAGATGTACGACAACATAGC	0.512000														179			22		0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089886	43089886	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:43089886G>A	uc003bdb.3	-	2	333	c.72C>T	c.(70-72)ttC>ttT	p.F24F	A4GALT_uc021wqo.1_Silent_p.F24F|A4GALT_uc021wqp.1_Silent_p.F24F|A4GALT_uc010gzd.3_Silent_p.F24F|A4GALT_uc021wqq.1_Silent_p.F24F	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	24					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						AGCCGATGATGAACAGGGTGC	0.597000														18			10		0	0	1	0	0
IQCF1	132141	broad.mit.edu	37	3	51937085	51937085	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:51937085C>T	uc003dbv.3	-	1	122	c.24G>A	c.(22-24)aaG>aaA	p.K8K	IQCF1_uc003dbq.4_Non-coding_Transcript	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	8										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTTCCTTCGTCTTTTGGGGCT	0.537000														294			104		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170177374	170177374	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:170177374G>A	uc002ues.3	-	1	313	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	LRP2_uc010zdf.1_Missense_Mutation_p.R34C	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	34	LDL-receptor class A 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTCCACAGCGAAAATGCGCA	0.413000														56			36		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188507	140188507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140188507G>A	uc003lhi.2	+	0	1836	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.E579K|PCDHAC2_uc011daa.2_Missense_Mutation_p.E579K	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	592	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGTGAGCGAGCTGGTGCC	0.662000														75			19		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87175226	87175226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87175226C>T	uc003uiz.2	-	15	2333	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	ABCB1_uc011khc.2_Missense_Mutation_p.E550K	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	614	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)	TTCATGAGTTCATCATGATTT	0.383000														90			29		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35648033	35648033	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:35648033C>T	uc003xjr.2	+	16	3142	c.2814C>T	c.(2812-2814)tcC>tcT	p.S938S	UNC5D_uc003xjs.2_Silent_p.S933S|UNC5D_uc003xju.2_Silent_p.S514S|UNC5D_uc022atw.1_5'Flank	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	938					apoptosis|axon guidance	integral to membrane	receptor activity	p.A938D(1)|p.A938A(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTTCAGAATCCCAGCTTGATG	0.502000														50			20		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94671197	94671197	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94671197C>T	uc001dqj.4	-	5	922	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.E185K	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	185					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTACCTTTTTCACTGGATGAG	0.323000														98			38		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109690130	109690130	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:109690130C>T	uc004bcz.3	+	2	4226	c.3937C>T	c.(3937-3939)Cac>Tac	p.H1313Y	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.H1161Y|ZNF462_uc004bda.3_Missense_Mutation_p.H1161Y	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1313					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGCTGGCTACCACTGCGAGTG	0.517000														141			14		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734303	92734303	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92734303C>A	uc003umf.3	-	2	1378	c.1108G>T	c.(1108-1110)Gca>Tca	p.A370S	SAMD9_uc003umg.3_Missense_Mutation_p.A370S|SAMD9_uc022ahg.1_Missense_Mutation_p.A370S	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	370						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)			CTGGACTCTGCCAGTGTTTTA	0.338000														63			12		2.80697e-09	2.8163e-09	1	1	0
SALL3	27164	broad.mit.edu	37	18	76757169	76757169	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:76757169C>T	uc002lmt.3	+	2	3750	c.3750C>T	c.(3748-3750)ctC>ctT	p.L1250L	SALL3_uc010dra.3_Silent_p.L785L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCAGCGCCCTCCCCCCTCTGG	0.622000														150			54		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28493824	28493824	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28493824C>T	uc003nll.2	+	0	36	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	GPX5_uc003nlm.2_Missense_Mutation_p.P12S|GPX5_uc003nln.2_5'Flank	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	12					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCATCTGCTTCCCCTTCTCCT	0.498000														168			79		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73567144	73567144	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73567144C>T	uc002joh.3	+	16	2293	c.2139C>T	c.(2137-2139)gtC>gtT	p.V713V	LLGL2_uc002joi.3_Silent_p.V713V|LLGL2_uc010dgg.2_Silent_p.V713V|LLGL2_uc002joj.3_Silent_p.V702V|LLGL2_uc010wsd.2_Silent_p.V340V	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	713					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGGCTTCGTCCGGACCCTGT	0.652000														119			51		0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100451917	100451918	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:100451917_100451918GA>AT	uc001tgq.3	-	13	3366_3367	c.3137_3138TC>AT	c.(3136-3138)atc>aAT	p.I1046N	UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.I696N	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	1046										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CAGCTTTAAAGATGGACTCTAT	0.356000														81			30		0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1808329	1808329	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:1808329C>T	uc003gdr.3	+	15	2343	c.2087C>T	c.(2086-2088)cCc>cTc	p.P696L	FGFR3_uc003gdu.2_Missense_Mutation_p.P698L|FGFR3_uc003gds.3_Missense_Mutation_p.P584L|FGFR3_uc003gdq.3_Silent_p.P673P	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	696	Protein kinase.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TCCCCGTACCCCGGCATCCCT	0.647000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					47			13		0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24628466	24628466	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:24628466C>T	uc002kwd.3	-	2	351	c.122_splice	c.e2-1	p.G41_splice	CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Splice_Site_p.G41_splice|CHST9_uc021uij.1_Splice_Site	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	41					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TCTCCACTCTCCCTGAAATGA	0.358000														60			18		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130736	45130736	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:45130736G>A	uc002xsa.3	-	3	1773	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	ZNF334_uc002xsb.3_Silent_p.F376F|ZNF334_uc002xsd.3_Silent_p.F376F|ZNF334_uc002xsc.3_Silent_p.F414F|ZNF334_uc010ghl.3_Silent_p.F413F			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATTGACAAAAGAAGGTTTTCT	0.423000														168			18		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113078	59113078	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:59113078G>A	uc001xdw.3	+	3	1901	c.1737G>A	c.(1735-1737)gtG>gtA	p.V579V	DACT1_uc010trv.2_Silent_p.V298V|DACT1_uc001xdx.3_Silent_p.V542V|DACT1_uc010trw.2_Silent_p.V298V	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	579					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus		p.V578I(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGGGCGTCGTGAAGAACTCCA	0.662000														26			9		0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17539531	17539531	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:17539531C>T	uc003ncb.3	+	7	911	c.668C>T	c.(667-669)tCt>tTt	p.S223F	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.S197F|CAP2_uc011djb.2_Missense_Mutation_p.S159F|CAP2_uc011djc.2_Missense_Mutation_p.S111F|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	223					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TCAGCGTTTTCTGTCCTCTCC	0.552000														145			77		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10914373	10914373	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:10914373C>T	uc002yip.1	-	20	1714	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.G431E|TPTE_uc002yir.1_Missense_Mutation_p.G411E|TPTE_uc010gkv.1_Missense_Mutation_p.G311E	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	449	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		CGAACATTTTCCTAATGAAAT	0.318000														55			6		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239162337	239162337	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:239162337G>A	uc002vyc.3	-	18	2564	c.2327C>T	c.(2326-2328)cCt>cTt	p.P776L	PER2_uc010znv.1_Missense_Mutation_p.P776L	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	776					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCTTAGTCCAGGGGCAGCTAA	0.413000														12			10		0	0	1	0	0
SULT4A1	25830	broad.mit.edu	37	22	44235853	44235853	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:44235853G>A	uc003bee.1	-	2	469	c.353C>T	c.(352-354)cCc>cTc	p.P118L	SULT4A1_uc003bed.1_Missense_Mutation_p.P39L|SULT4A1_uc003bef.1_Non-coding_Transcript|SULT4A1_uc011aqb.1_Intron	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	Homo sapiens sulfotransferase family 4A, member 1 (SULT4A1), mRNA.	118					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		GAGGTCAGAGGGCAGAAAGCG	0.597000														12			5		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71265027	71265027	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71265027C>T	uc003hfi.3	+	1	199	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	9					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CTTCTTGGGCCTGTTGGCTCT	0.318000														46			4		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48391896	48391896	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48391896G>A	uc003toq.2	+	30	10524	c.10500G>A	c.(10498-10500)gtG>gtA	p.V3500V	ABCA13_uc010kys.1_Silent_p.V574V|ABCA13_uc003tos.1_Silent_p.V326V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3500					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAACAGATGTGGTAAAAAACC	0.453000														61			31		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124358351	124358351	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124358351G>A	uc001lgk.1	+	25	3124	c.3018G>A	c.(3016-3018)gtG>gtA	p.V1006V	DMBT1_uc001lgl.1_Silent_p.V996V|DMBT1_uc001lgm.1_Silent_p.V507V|DMBT1_uc021qaf.1_Silent_p.V1006V|DMBT1_uc021qag.1_Silent_p.V996V|DMBT1_uc021qah.1_Silent_p.V507V|DMBT1_uc009xzz.1_Silent_p.V1006V|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1006	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGGGCCGAGTGGAGGTCCTAT	0.572000														450			141		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43522383	43522383	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43522383C>T	uc002zag.1	+	7	1294	c.1294C>T	c.(1294-1296)Cac>Tac	p.H432Y	UMODL1_uc002zad.1_Missense_Mutation_p.H360Y|UMODL1_uc002zae.1_Missense_Mutation_p.H360Y|UMODL1_uc002zaf.1_Missense_Mutation_p.H432Y|UMODL1_uc010gow.1_Missense_Mutation_p.H224Y|UMODL1_uc002zai.1_Missense_Mutation_p.H83Y|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.H83Y|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.H177Y|C21orf128_uc002zak.2_3'UTR	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	432	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACAACTGCTTCACGAGGTAAA	0.458000														58			19		0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840893	142840893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:142840893C>T	uc003evm.3	+	1	2174	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	CHST2_uc021xex.1_Missense_Mutation_p.P412L	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	412					N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GCCCTGCAGCCCCCTGACTGG	0.617000														49			28		0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55525834	55525834	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:55525834C>T	uc002ehz.4	+	7	1613	c.1302C>T	c.(1300-1302)tcC>tcT	p.S434S	MMP2_uc010vhd.2_Silent_p.S358S|MMP2_uc010ccc.3_Silent_p.S384S	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	434	Collagenase-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TCCGTCTGTCCCAGGATGACA	0.617000														31			13		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70635015	70635015	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70635015C>T	uc001xly.3	-	1	879	c.125G>A	c.(124-126)gGg>gAg	p.G42E	SLC8A3_uc001xlw.3_Missense_Mutation_p.G42E|SLC8A3_uc001xlx.3_Missense_Mutation_p.G42E|SLC8A3_uc001xlz.3_Missense_Mutation_p.G42E|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	42					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATTGTTCTGCCCTGTGCTTGG	0.567000														42			13		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153655048	153655048	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153655048G>A	uc001fcs.4	+	4	1667	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	NPR1_uc010pdz.2_Missense_Mutation_p.E162K|NPR1_uc010pea.2_5'Flank	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	416					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TATGGATCCCGAGAATGGTGC	0.527000														49			13		0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89888625	89888625	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:89888625G>A	uc003pna.2	-	9	1759	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	GABRR1_uc011dzv.1_Missense_Mutation_p.S412F	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	435					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	CCTCTGTGGGGAGCTCCTCTC	0.512000														66			44		0	0	1	0	0
RGS14	10636	broad.mit.edu	37	5	176798513	176798513	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176798513C>T	uc003mgh.3	+	13	1606	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L	RGS14_uc003mgf.3_Missense_Mutation_p.P474L|RGS14_uc003mgi.3_Missense_Mutation_p.P245L	NM_006480	NP_006471	O43566	RGS14_HUMAN	Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.	474					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	PML body|cell junction|centrosome|dendritic spine|microtubule|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCACCCATCCCCCTCCAGCG	0.597000														214			42		0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97527334	97527334	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:97527334G>A	uc002sxg.4	-	11	2044	c.1813C>T	c.(1813-1815)Ctc>Ttc	p.L605F	SEMA4C_uc002sxf.4_Missense_Mutation_p.L52F|SEMA4C_uc002sxe.3_Missense_Mutation_p.L52F|SEMA4C_uc002sxh.4_Missense_Mutation_p.L552F	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	552	Ig-like C2-type.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	p.Y605C(1)		NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CTGCCACGGAGGTTGCAGATG	0.562000														130			28		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140953626	140953626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140953626C>T	uc004cog.3	+	29	4714	c.4569C>T	c.(4567-4569)atC>atT	p.I1523I	CACNA1B_uc022bqn.1_Silent_p.I1523I|CACNA1B_uc011mfd.2_Silent_p.I1124I|CACNA1B_uc004coi.3_Silent_p.I737I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1523					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGAAGATCATCGCCTTTGGGG	0.502000														12			4		0	0	1	0	0
KBTBD13	390594	broad.mit.edu	37	15	65370431	65370431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65370431G>A	uc010uis.2	+	0	1278	c.1278G>A	c.(1276-1278)gaG>gaA	p.E426E	RASL12_uc010uir.1_5'Flank	NM_001101362	NP_001094832	C9JR72	KBTBD_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 13 (KBTBD13), mRNA.	426						cytoplasm				lung(1)|prostate(1)|skin(1)	3						TGCTCAGGGAGAAAGCCGGCT	0.647000														16			5		0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6262879	6262879	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6262879G>A	uc001mco.3	+	4	1251	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	CNGA4_uc010raa.2_Missense_Mutation_p.G148E|CNGA4_uc001mcn.3_Missense_Mutation_p.G339E	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	379					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCGCAAAGGAGACATTGGC	0.552000														205			54		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52129363	52129363	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52129363C>T	uc002pxe.3	-	7	1525	c.1386G>A	c.(1384-1386)gtG>gtA	p.V462V		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	462					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGCGGGCTTTCACTCTAAGGA	0.522000														72			9		0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24689299	24689299	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:24689299G>A	uc003swx.3	+	4	638	c.339G>A	c.(337-339)atG>atA	p.M113I	MPP6_uc003swy.3_Missense_Mutation_p.M113I	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	113					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GCCCAGAAATGAATAATTCTT	0.383000														84			24		0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41819639	41819639	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:41819639G>A	uc001zod.3	-	11	1717	c.1593C>T	c.(1591-1593)gcC>gcT	p.A531A		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	531						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CATCATGTCGGGCCAGGTCAG	0.552000														75			21		0	0	1	0	0
GCA	25801	broad.mit.edu	37	2	163213409	163213409	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:163213409C>T	uc002ucg.3	+	4	624	c.448C>T	c.(448-450)Ctt>Ttt	p.L150F		NM_012198	NP_036330	P28676	GRAN_HUMAN	Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA.	150	EF-hand 3.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						AGCCATTGGTCTTATGGGTAA	0.363000														96			6		0	0	1	0	0
SNORD116-1	100033413	broad.mit.edu	37	15	25296628	25296628	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:25296628C>T	uc001yxg.3	+	0		c.6C>T								Homo sapiens small nucleolar RNA, C/D box 116-1 (SNORD116-1), small nucleolar RNA.																		GTGCTTGGATCGATGATGAGT	0.473000														126			53		0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8115917	8115917	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:8115917G>A	uc001ijz.3	+	5	1823	c.1266G>A	c.(1264-1266)ccG>ccA	p.P422P	GATA3_uc001ika.3_Silent_p.P421P	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	421					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding	p.P422P(2)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CGCCCACGCCGATGCACCCGC	0.647000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""							71			28		0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35044528	35044528	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35044528A>G	uc003zvw.3	+	1	1931	c.1902A>G	c.(1900-1902)gaA>gaG	p.E634E	C9orf131_uc003zvu.3_Silent_p.E586E|C9orf131_uc003zvv.3_Silent_p.E561E|C9orf131_uc003zvx.3_Silent_p.E599E	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	634										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCAAAAAGAAAACTGTGTTC	0.498000														162			23		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129276019	129276019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:129276019G>A	uc003emx.2	-	33	5593	c.5493C>T	c.(5491-5493)taC>taT	p.Y1831Y	PLXND1_uc003emw.2_5'UTR|PLXND1_uc011blb.1_Silent_p.Y500Y	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1831					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CGATCTTCCGGTACTCAGGAA	0.572000														72			29		0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42647492	42647492	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:42647492C>T	uc002yyw.3	+	8	1961	c.1498C>T	c.(1498-1500)Ccc>Tcc	p.P500S	BACE2_uc002yyx.3_Missense_Mutation_p.P450S|BACE2_uc002yyy.3_3'UTR|BACE2_uc010goo.3_Non-coding_Transcript	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA.	500					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TCAGCGTCGCCCCCGTGACCC	0.542000														47			9		0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30948420	30948420	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:30948420C>T	uc003xio.4	+	14	2579	c.1791C>T	c.(1789-1791)ccC>ccT	p.P597P	WRN_uc010lvk.3_Silent_p.P64P	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	597	Helicase ATP-binding.				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTATCTCTCCCCTTATTTCTC	0.358000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					134			25		0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93518142	93518142	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:93518142A>T	uc002bsp.3	+	19	3114	c.2539A>T	c.(2539-2541)Aaa>Taa	p.K847*	CHD2_uc002bso.1_Nonsense_Mutation_p.K847*|CHD2_uc010bog.1_Nonsense_Mutation_p.K92*|CHD2_uc010boh.1_Nonsense_Mutation_p.K41*	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	847	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGAAATCCGAAAACAGGCACT	0.438000														90			27		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193080175	193080175	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:193080175C>T	uc011bsq.2	-	4	531	c.531G>A	c.(529-531)gaG>gaA	p.E177E		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	177					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCTACCTGACCTCTTGCTCTT	0.418000														43			19		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6955364	6955364	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:6955364G>A	uc002knm.3	-	56	8289	c.8195C>T	c.(8194-8196)gCt>gTt	p.A2732V	LAMA1_uc002knk.3_Missense_Mutation_p.A62V|LAMA1_uc002knl.3_Missense_Mutation_p.A185V|LAMA1_uc010wzj.2_Missense_Mutation_p.A2208V	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2732	Laminin G-like 4.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTTCTGACAGCCGACTGATT	0.478000														28			4		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76463724	76463724	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:76463724C>T	uc003yaq.3	+	4	613	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	HNF4G_uc003yar.3_Missense_Mutation_p.R152C	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	115					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AGTTCGGTCTCGCCAGGTACC	0.423000														34			9		0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607910	53607910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53607910G>A	uc001scf.3	-	6	1238	c.746C>T	c.(745-747)cCt>cTt	p.P249L	RARG_uc001scd.3_Missense_Mutation_p.P238L|RARG_uc010sob.2_Missense_Mutation_p.P227L|RARG_uc001scg.3_Missense_Mutation_p.P177L|RARG_uc010soc.2_Missense_Mutation_p.P128L|RARG_uc001sce.3_Missense_Mutation_p.P249L|RARG_uc010sod.2_Missense_Mutation_p.P286L	NM_000966	NP_001230660	P13631	RARG_HUMAN	Homo sapiens retinoic acid receptor, gamma (RARG), transcript variant 1, mRNA.	249	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.P249S(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGTAAAGCCAGGCAACCGCTT	0.572000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		159			51		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99723945	99723945	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:99723945C>T	uc001yga.3	-	1	557	c.290G>A	c.(289-291)aGc>aAc	p.S97N	BCL11B_uc001ygb.3_Missense_Mutation_p.S97N	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	97						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGGTGGCGGGCTGTCCTTGTC	0.597000			T	TLX3	T-ALL									92			7		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675457	3675458	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3675457_3675458CC>TT	uc002wja.3	-	10	2796_2797	c.2796_2797GG>AA	c.(2794-2799)cgggat>cgAAat	p.D933N	SIGLEC1_uc002wiz.4_Missense_Mutation_p.D933N|SIGLEC1_uc002wjb.1_5'Flank	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	933	Ig-like C2-type 9.				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						GGCTGGCCATCCCGATACCAAC	0.614000														56			26		0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51981872	51981872	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51981872C>T	uc002pwv.1	+	1	159	c.159C>T	c.(157-159)ctC>ctT	p.L53L		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	53						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGGGACCCCTCCTCCTGGAGG	0.627000														21			4		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141526869	141526869	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141526869C>T	uc002tvj.1	-	34	6643	c.5671G>A	c.(5671-5673)Gga>Aga	p.G1891R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1891					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAGGTATTCCCCTGATTCCT	0.408000										TSP Lung(27;0.18)				84			16		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78369177	78369177	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:78369177C>T	uc001ozl.4	-	33	8699	c.8236G>A	c.(8236-8238)Gag>Aag	p.E2746K	ODZ4_uc001ozk.4_Missense_Mutation_p.E971K	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2746					signal transduction	integral to membrane		p.E2746*(3)		breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GGGTACTGCTCGACAGAGATC	0.597000														210			85		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117278829	117278829	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:117278829C>T	uc001lcg.3	+	24	4097	c.3711C>T	c.(3709-3711)ttC>ttT	p.F1237F	ATRNL1_uc010qsm.2_Silent_p.F366F|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1237						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTGTCACCTTCTTCAGGTAAA	0.323000														36			9		0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	182994669	182994669	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:182994669G>A	uc003fli.1	-	14	1943	c.1853C>T	c.(1852-1854)tCc>tTc	p.S618F	MCF2L2_uc003flj.1_Missense_Mutation_p.S618F|MCF2L2_uc011bqr.1_Non-coding_Transcript	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	618					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.S618F(2)|p.S618S(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCTGCGGGGGGAAAGGTCTCC	0.557000														15			8		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2298088	2298088	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:2298088G>A	uc002wfx.4	+	6	1037	c.940G>A	c.(940-942)Gac>Aac	p.D314N		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	314					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGTGTACTACGACCCCATGGG	0.517000														151			54		0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69334630	69334630	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69334630G>A	uc003hdz.4	+	3	356	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	98	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.R97M(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TCCATTAAGGGAAGAATTTGT	0.294000														192			37		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179489358	179489358	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179489358C>T	uc021vsy.1	-	190	37170	c.36945G>A	c.(36943-36945)gtG>gtA	p.V12315V	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.V6010V|TTN_uc021vta.1_Silent_p.V5943V|TTN_uc021vtb.1_Silent_p.V5818V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13242	Ig-like 82.						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)			TGAACCATTTCACCTTAGCAT	0.458000														58			24		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40790001	40790001	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:40790001C>T	uc002xkg.3	-	16	2857	c.2673G>A	c.(2671-2673)gaG>gaA	p.E891E	PTPRT_uc010ggj.3_Silent_p.E910E|PTPRT_uc010ggi.3_Silent_p.E94E	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	891	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTCGTATTCCTCCTTGAACC	0.552000														61			30		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2026852	2026852	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2026852G>A	uc003wpx.4	+	11	1438	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	434	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCAGTGCAATGATGCACCGGT	0.428000														179			45		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45518302	45518302	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45518302C>T	uc002zea.3	+	20	3402	c.3233C>T	c.(3232-3234)tCc>tTc	p.S1078F	TRAPPC10_uc010gpo.3_Missense_Mutation_p.S789F|TRAPPC10_uc011afa.2_Missense_Mutation_p.S456F|TRAPPC10_uc011afb.1_Missense_Mutation_p.S183F	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	1078					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGAACAGGCTCCCTCTGCTCC	0.473000														159			56		0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967526	142967526	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:142967526G>A	uc004fca.3	+	0	354	c.324G>A	c.(322-324)tcG>tcA	p.S108S		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	108							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)					TTCTGCTATCGATCCAGGCCT	0.423000														47			70		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231889	7231889	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:7231889C>T	uc010wzk.2	+	0	753	c.753C>T	c.(751-753)ctC>ctT	p.L251L		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	251								p.E250K(1)|p.L251H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CGAGCGAACTCCACCTGCTGT	0.572000														97			40		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37044568	37044568	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:37044568C>T	uc003jkl.4	+	34	6727	c.6228C>T	c.(6226-6228)ctC>ctT	p.L2076L	NIPBL_uc003jkk.4_Silent_p.L2076L	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2076					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TAATGAAGCTCATCATCAAAT	0.318000														79			7		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93148206	93148206	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:93148206C>T	uc001pdq.3	+	12	1664	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S	CCDC67_uc001pdo.1_Missense_Mutation_p.P522S	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	522										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TACAATGCCTCCCTTGCCACC	0.408000														81			19		0	0	1	0	0
OR2T5	401993	broad.mit.edu	37	1	248651978	248651978	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248651978T>C	uc001iem.1	+	0	89	c.89T>C	c.(88-90)cTa>cCa	p.L30P		NM_001004697	NP_001004697	Q6IEZ7	OR2T5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 5 (OR2T5), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A29S(1)|p.L30I(1)		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)			CATCCAGCTCTACTTAGTGTG	0.502000														183			10		0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89651233	89651233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89651233G>A	uc002fnp.3	+	6	914	c.784G>A	c.(784-786)Gac>Aac	p.D262N	CPNE7_uc002fnq.3_Missense_Mutation_p.D187N	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	262	C2 2.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GGTCAACGACGACCAGGGCTT	0.657000														28			6		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209799047	209799047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:209799047G>A	uc001hhg.3	-	12	2312	c.1922C>T	c.(1921-1923)cCc>cTc	p.P641L	LAMB3_uc009xco.3_Missense_Mutation_p.P641L|LAMB3_uc001hhh.3_Missense_Mutation_p.P641L|LAMB3_uc010psl.1_Intron|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	641	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.S640T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGTGACTGCGGGGCTGCTGAG	0.587000														85			32		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652070	121652070	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:121652070C>T	uc003vjy.3	+	11	3365	c.2970C>T	c.(2968-2970)ctC>ctT	p.L990L	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	990					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTCATGCCCTCTCTGGTGATG	0.458000														129			59		0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35086057	35086057	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:35086057C>T	uc003okd.2	-	9	1721	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	TCP11_uc003ojz.1_Missense_Mutation_p.E439K|TCP11_uc003oka.2_Missense_Mutation_p.E439K|TCP11_uc003okb.2_Missense_Mutation_p.E438K|TCP11_uc011dsu.1_Missense_Mutation_p.E496K|TCP11_uc003okc.2_Missense_Mutation_p.E438K|TCP11_uc011dsv.1_Missense_Mutation_p.E463K|TCP11_uc011dsw.1_Missense_Mutation_p.E468K	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	501					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CAAACAGACTCCACTTTTGTT	0.512000														109			11		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57950064	57950064	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:57950064C>T	uc002emt.2	-	21	2251	c.2186G>A	c.(2185-2187)cGa>cAa	p.R729Q	CNGB1_uc010cdh.2_Missense_Mutation_p.R723Q	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	729					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GTAGTTATTTCGCATGTCCTT	0.517000														93			41		0	0	1	0	0
IL13	3596	broad.mit.edu	37	5	131995155	131995155	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:131995155G>A	uc003kxj.1	+	1	234	c.220G>A	c.(220-222)Gct>Act	p.A74T		NM_002188	NP_002179	P35225	IL13_HUMAN	Homo sapiens interleukin 13 (IL13), mRNA.	74					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAACCTGACAGCTGGCATGGT	0.602000														17			3		0	0	1	0	0
TMEM213	155006	broad.mit.edu	37	7	138487709	138487709	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:138487709C>T	uc010lna.3	+	2	330	c.219C>T	c.(217-219)atC>atT	p.I73I	TMEM213_uc010lnb.3_Silent_p.I72I	NM_001085429	NP_001078898	A2RRL7	TM213_HUMAN	Homo sapiens transmembrane protein 213 (TMEM213), mRNA.	73						integral to membrane		p.I73I(3)		breast(1)|endometrium(3)|kidney(1)|lung(1)	6						ACGGCTGGATCGCGGCAGCTG	0.607000														34			9		0	0	1	0	0
WFDC2	10406	broad.mit.edu	37	20	44108734	44108734	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44108734G>A	uc002xoo.3	+	3	404	c.376_splice	c.e3+1		WFDC2_uc002xoq.3_Splice_Site|WFDC2_uc002xop.3_Splice_Site|WFDC2_uc002xor.3_Splice_Site	NM_006103	NP_006094	Q14508	WFDC2_HUMAN	Homo sapiens WAP four-disulfide core domain 2 (WFDC2), mRNA.						proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				CAATTTCTGAGGTAAGTGAAC	0.557000														92			24		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389848	77389848	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:77389848C>T	uc002ffc.4	-	8	1868	c.1449G>A	c.(1447-1449)aaG>aaA	p.K483K	ADAMTS18_uc010chc.1_Silent_p.K71K|ADAMTS18_uc002ffe.1_Silent_p.K179K|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.	483	Peptidase M12B.				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						TGAGGAATTTCTTGAGATACT	0.478000														105			10		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922012	24922012	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24922012C>T	uc001ywo.3	+	0	1472	c.998C>T	c.(997-999)cCa>cTa	p.P333L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	333	Pro-rich.				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)		ATGTCGATTCCATTGCTGCTG	0.577000														37			25		0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89847259	89847259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:89847259G>A	uc001dnf.2	+	6	1152	c.878G>A	c.(877-879)gGa>gAa	p.G293E	GBP6_uc010ost.1_Missense_Mutation_p.G163E	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	293							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TTAGGTCTGGGAACTCTGGCA	0.483000														97			35		0	0	1	0	0
S1PR3	1903	broad.mit.edu	37	9	91616901	91616901	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:91616901C>T	uc022bjm.1	+	0	786	c.786C>T	c.(784-786)ctC>ctT	p.L262L	S1PR3_uc004aqe.3_Silent_p.L262L	NM_005226	NP_005217	Q99500	S1PR3_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA.	262					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TCTTCATCCTCTTCCTCATTG	0.597000														29			22		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100796698	100796699	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:100796698_100796699CC>TT	uc003yiv.3	+	42	8121_8122	c.8010_8011CC>TT	c.(8008-8013)tcccca>tcTTca	p.P2671S	VPS13B_uc003yiw.3_Missense_Mutation_p.P2646S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2671					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)			CTCACAAATCCCCACAGGTATT	0.470000														105			25		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227429	39227430	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:39227429_39227430CC>TT	uc003cjk.2	-	1	3736_3737	c.3507_3508GG>AA	c.(3505-3510)agggag>agAAag	p.E1170K	XIRP1_uc003cji.3_Intron|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.E1170K	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1170							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)		AGGGCAGTCTCCCTGTGCCTTG	0.639000														29			12		0	0	1	0	0
NRBP1	29959	broad.mit.edu	37	2	27656267	27656267	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27656267C>T	uc002rko.3	+	2	959	c.127C>T	c.(127-129)Cca>Tca	p.P43S	NRBP1_uc002rkp.3_Missense_Mutation_p.P43S|NRBP1_uc002rkr.3_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	Homo sapiens nuclear receptor binding protein 1 (NRBP1), mRNA.	43					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					AGCTGCTTCCCCAGAGGAAGA	0.522000														80			13		0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17322773	17322773	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17322773C>T	uc010eak.3	+	39	6280	c.6128C>T	c.(6127-6129)cCt>cTt	p.P2043L	MYO9B_uc002nfi.3_3'UTR|MYO9B_uc002nfm.1_3'UTR	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	2043	Tail.			TVAAPP -> PWPPLH (in Ref. 3; AAC26597).	actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GTGGCCGCCCCTCCACGACGA	0.692000														8			7		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52159647	52159647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52159647G>A	uc001ryw.3	+	15	2915	c.2737G>A	c.(2737-2739)Gaa>Aaa	p.E913K	SCN8A_uc010snl.2_Missense_Mutation_p.E913K|SCN8A_uc001ryy.2_Missense_Mutation_p.E778K	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	913					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCAGGACTGTGAACTCCCTCG	0.488000														115			66		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158608031	158608031	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158608031C>T	uc001fst.1	-	36	5180	c.4981_splice	c.e36-1	p.D1661_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1661					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGAGTGCATCCTAGAAAGTC	0.433000														22			8		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169842736	169842736	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169842736C>T	uc002ueo.1	-	9	1093	c.967G>A	c.(967-969)Gga>Aga	p.G323R		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	323	ABC transmembrane type-1 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GTAAAGAATCCCATCACTATT	0.443000														112			12		0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608361	4608361	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4608361G>A	uc010qyh.2	+	0	341	c.319G>A	c.(319-321)Gtg>Atg	p.V107M		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCTCCTCGGTGGTACCCAA	0.488000														269			30		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159650906	159650906	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:159650906C>T	uc010kjv.3	+	9	1440	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	FNDC1_uc010kjw.1_Intron	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	414	Fibronectin type-III 4.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCTCACCTATCCTGGAGACAC	0.507000														232			29		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25293954	25293954	+	Missense_Mutation	SNP	G	A	A	rs144859640	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25293954G>A	uc003abg.2	+	19	2360	c.2203G>A	c.(2203-2205)Gat>Aat	p.D735N	SGSM1_uc010guu.1_Missense_Mutation_p.D680N|SGSM1_uc003abh.2_Missense_Mutation_p.D674N|SGSM1_uc003abj.2_Missense_Mutation_p.D619N|SGSM1_uc003abi.1_Missense_Mutation_p.D655N	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	735	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGAGTCTGTGGATGAGGTGGA	0.522000														9			5		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57411647	57411647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57411647G>A	uc001cyp.3	-	6	1019	c.952C>T	c.(952-954)Ctt>Ttt	p.L318F	C8B_uc010oon.2_Missense_Mutation_p.L256F|C8B_uc010ooo.2_Missense_Mutation_p.L266F	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	318	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACTCTCTGAAGGAACTCGTAA	0.483000														50			25		0	0	1	0	0
CMBL	134147	broad.mit.edu	37	5	10290816	10290816	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:10290816C>T	uc003jes.3	-	1	510	c.59G>A	c.(58-60)gGg>gAg	p.G20E		NM_138809	NP_620164	Q96DG6	CMBL_HUMAN	Homo sapiens carboxymethylenebutenolidase homolog (Pseudomonas) (CMBL), mRNA.	20						cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						ACGGCCTAGCCCTCCATACTC	0.473000														151			10		0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35802840	35802840	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35802840C>T	uc002nyy.2	+	9	1834	c.1636C>T	c.(1636-1638)Ccc>Tcc	p.P546S	MAG_uc002nyx.2_Missense_Mutation_p.P546S|MAG_uc010eds.2_Missense_Mutation_p.P521S|MAG_uc002nyz.2_Missense_Mutation_p.P546S	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	546					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.S545R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GACAGAGAGCCCCAGCTTCTC	0.607000														18			6		0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776262	5776262	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5776262G>A	uc001mbu.3	+	0	340	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TGGATTTGATGAATGCCTTGT	0.488000														78			25		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039962	31039962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:31039962C>T	uc002nsu.1	+	3	3574	c.3436C>T	c.(3436-3438)Ccc>Tcc	p.P1146S	ZNF536_uc010edd.1_Missense_Mutation_p.P1146S	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGAGGATGTCCCCATCCTGAT	0.552000														71			20		0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35551337	35551337	+	Missense_Mutation	SNP	C	T	T	rs147075058	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35551337C>T	uc002nxq.2	+	8	786	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	HPN_uc002nxr.2_Missense_Mutation_p.R181C|HPN_uc010xsh.1_Missense_Mutation_p.R150C|HPN_uc002nxt.1_Missense_Mutation_p.R65C|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	181	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	AGTCAGCCTTCGCTATGATGG	0.682000														91			52		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29848108	29848108	+	Missense_Mutation	SNP	G	A	A	rs139726967		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29848108G>A	uc002kxl.3	-	5	2413	c.2357C>T	c.(2356-2358)cCg>cTg	p.P786L	FAM59A_uc002kxk.2_Missense_Mutation_p.P785L	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	786								p.P785L(2)		endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						GAGATGGAGCGGAGATGAGAA	0.547000														34			20		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200965372	200965372	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:200965372C>T	uc001gvs.2	-	14	2546	c.2229G>A	c.(2227-2229)agG>agA	p.R743R	KIF21B_uc009wzl.2_Silent_p.R743R|KIF21B_uc001gvr.2_Silent_p.R743R|KIF21B_uc010ppn.2_Silent_p.R743R	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	743					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCTTCAGCTCCCTCTCGTAGC	0.612000														204			74		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11300809	11300809	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:11300809C>T	uc010hdr.3	+	1	428	c.86C>T	c.(85-87)cCc>cTc	p.P29L	HRH1_uc010hds.3_Missense_Mutation_p.P29L|HRH1_uc010hdt.3_Missense_Mutation_p.P29L|HRH1_uc003bwb.4_Missense_Mutation_p.P29L|HRH1_uc021wtb.1_Missense_Mutation_p.P29L	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	29					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CAGCTGATGCCCCTGGTGGTG	0.587000														31			13		0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99007635	99007635	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:99007635G>A	uc001tfv.3	-	2	891	c.781C>T	c.(781-783)Cta>Tta	p.L261L	IKBIP_uc001tfw.3_3'UTR	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN	Homo sapiens IKBKB interacting protein (IKBIP), transcript variant 2, mRNA.	261					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	p.D261N(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TCTAAGCTTAGAAATCTATCT	0.373000														97			24		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32595859	32595859	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:32595859G>A	uc002yow.1	-	8	2330	c.1858C>T	c.(1858-1860)Cgt>Tgt	p.R620C	TIAM1_uc011adk.1_Missense_Mutation_p.R620C|TIAM1_uc011adl.1_Missense_Mutation_p.R620C|TIAM1_uc002yox.1_Missense_Mutation_p.R228C	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	620					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CAGCGGAAACGAAACAGGTCC	0.478000														76			27		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22838343	22838343	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22838343C>T	uc001bft.2	+	11	2688	c.2177C>T	c.(2176-2178)tCa>tTa	p.S726L	ZBTB40_uc001bfu.2_Missense_Mutation_p.S726L|ZBTB40_uc009vqi.1_Missense_Mutation_p.S614L|ZBTB40_uc001bfv.1_Missense_Mutation_p.S355L	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	726					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAAGAGGCTTCAGCCTCCCCA	0.527000														43			13		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43214476	43214476	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43214476C>T	uc003ouq.1	+	1	357	c.78C>T	c.(76-78)gcC>gcT	p.A26A		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	26						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TCCTGCCGGCCAACTACGTGG	0.642000														34			13		0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154533920	154533920	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:154533920G>A	uc021zhc.1	-	18	2409	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F	OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpv.3_Missense_Mutation_p.S44F|CNKSR3_uc003qpw.3_Missense_Mutation_p.S174F|CNKSR3_uc003qpx.3_Missense_Mutation_p.S173F|CNKSR3_uc010kjh.3_Missense_Mutation_p.S174F|CNKSR3_uc021zhd.1_Missense_Mutation_p.S218F|CNKSR3_uc021zhe.1_Missense_Mutation_p.S148F	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	323					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CTGAGTCTGGGAAGCGTGAGG	0.413000														28			15		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24835007	24835007	+	Silent	SNP	G	A	A	rs78374720		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:24835007G>A	uc001iru.4	+	20	5989	c.5586G>A	c.(5584-5586)ttG>ttA	p.L1862L	KIAA1217_uc001irs.3_Silent_p.L1183L|KIAA1217_uc001irt.4_Silent_p.L1228L|KIAA1217_uc010qcy.2_Silent_p.L1293L|KIAA1217_uc010qcz.2_Silent_p.L1268L|KIAA1217_uc001irw.3_3'UTR|KIAA1217_uc001irz.3_3'UTR|KIAA1217_uc001irx.3_3'UTR|KIAA1217_uc001iry.3_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1862	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATGGCTCTTTGAAGTTTCAGA	0.502000														113			52		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26695003	26695003	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:26695003C>T	uc001mra.2	-	13	1966	c.1653G>A	c.(1651-1653)aaG>aaA	p.K551K	SLC5A12_uc001mrb.2_Non-coding_Transcript	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	551					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TTTTGTACTTCTTAGACCAAA	0.388000														143			54		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32037621	32037621	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32037621C>T	uc003nzl.2	-	14	5498	c.5296G>A	c.(5296-5298)Gat>Aat	p.D1766N		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1848	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCAGTATCATCCATAGCACTC	0.602000														27			9		0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66479210	66479210	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:66479210C>T	uc003juy.2	-	2	1609	c.1461G>A	c.(1459-1461)acG>acA	p.T487T		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	487					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGTTGGTCTTCGTGATAGTCC	0.483000														53			22		0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132016264	132016264	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:132016264C>T	uc010sci.2	+	2	587	c.256C>T	c.(256-258)Cct>Tct	p.P86S	NTM_uc001qgm.3_Missense_Mutation_p.P86S|NTM_uc010sch.2_Missense_Mutation_p.P77S|NTM_uc010scj.2_Missense_Mutation_p.P45S|NTM_uc001qgo.3_Missense_Mutation_p.P86S|NTM_uc001qgq.3_Missense_Mutation_p.P86S|NTM_uc001qgp.3_Missense_Mutation_p.P86S	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	86	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GTGCCTGGATCCTCGCGTGGT	0.572000														57			21		0	0	1	0	0
AK024141	0	broad.mit.edu	37	14	73079314	73079314	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:73079314G>A	uc010arh.1	-	0		c.490C>T								Homo sapiens cDNA FLJ14079 fis, clone HEMBB1002134, weakly similar to ZINC-FINGER PROTEIN NEURO-D4.																		GAAGGGAGAGGGCAGGAGGAG	0.532000														69			35		0	0	1	0	0
CCL28	56477	broad.mit.edu	37	5	43412406	43412406	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:43412406C>T	uc003jnu.3	-	0	83	c.13G>A	c.(13-15)Gga>Aga	p.G5R	CCL28_uc003jns.3_Non-coding_Transcript|CCL28_uc003jnt.3_Non-coding_Transcript|CCL28_uc021xyh.1_Missense_Mutation_p.G5R	NM_148672	NP_683513	Q9NRJ3	CCL28_HUMAN	Homo sapiens chemokine (C-C motif) ligand 28 (CCL28), mRNA.	5					chemotaxis|immune response	extracellular space	chemokine activity			kidney(3)|lung(3)|ovary(1)	7						ATGGCGAGTCCTCTCTGCTGC	0.572000														40			7		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106121904	106121904	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106121904G>A	uc001kyh.3	+	2	549	c.415G>A	c.(415-417)Gga>Aga	p.G139R		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	139										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GCAGGGGTCTGGACTGTCAAT	0.488000														26			15		0	0	1	0	0
CD274	29126	broad.mit.edu	37	9	5457416	5457416	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:5457416C>T	uc003zje.3	+	2	498	c.390C>T	c.(388-390)gtC>gtT	p.V130V	PLGRKT_uc003zjd.3_Intron|CD274_uc011lmb.2_Silent_p.V130V|CD274_uc010mhn.3_Non-coding_Transcript|CD274_uc003zjf.3_Intron	NM_014143	NP_054862	Q9NZQ7	PD1L1_HUMAN	Homo sapiens CD274 molecule (CD274), mRNA.	130					T cell costimulation|cell proliferation|cell surface receptor linked signaling pathway|immune response	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		CTGTGAAAGTCAATGGTAAGA	0.393000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									31			4		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28913995	28913995	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28913995C>T	uc002kwp.3	+	7	1047	c.835C>T	c.(835-837)Caa>Taa	p.Q279*		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	279	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)			CATAGAAATTCAAGAAAATAC	0.338000														73			23		0	0	1	0	0
ZNF655	79027	broad.mit.edu	37	7	99171107	99171107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99171107C>T	uc010lga.3	+	3	1874	c.1481C>T	c.(1480-1482)aCc>aTc	p.T494I	ZNF655_uc003urh.3_Missense_Mutation_p.T459I|ZNF655_uc010lgc.3_Missense_Mutation_p.T494I|ZNF655_uc003urj.3_Missense_Mutation_p.T459I|ZNF655_uc003urk.3_Missense_Mutation_p.T296I|ZNF655_uc010lgd.3_Missense_Mutation_p.T296I	NM_001083956	NP_001078837	Q8N720	ZN655_HUMAN	Homo sapiens zinc finger protein 655 (ZNF655), transcript variant 7, mRNA.	459					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GAAGTCCTCACCAGACAGAAA	0.403000														168			63		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433410	140433410	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140433410G>A	uc003lik.1	+	0	2432	c.2355G>A	c.(2353-2355)ggG>ggA	p.G785G		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	785					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGCCACTGGGGAGATAAAAA	0.453000														106			40		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151156369	151156369	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151156369G>A	uc011bod.2	-	5	5980	c.5980C>T	c.(5980-5982)Cac>Tac	p.H1994Y	IGSF10_uc011bob.2_Missense_Mutation_p.H21Y|IGSF10_uc011boc.2_5'UTR	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1994	Ig-like C2-type 6.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGTAGACGTGGATCCAGCTG	0.458000														43			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569978	179569978	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179569978C>T	uc021vsy.1	-	99	26020	c.25795G>A	c.(25795-25797)Gga>Aga	p.G8599R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G5260R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9526	Ig-like 68.						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)			TCAGTGATTCCATACATGCGG	0.378000														60			18		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169539934	169539934	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:169539934C>T	uc003fgb.3	+	0	225	c.225C>T	c.(223-225)gtC>gtT	p.V75V		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	75								p.R74G(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACATCAGGGTCCTCTACCTGG	0.502000														82			40		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52131148	52131148	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52131148G>A	uc002pxe.3	-	4	1075	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	312	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CGCGGCAGGTGAAGCCTCCTT	0.572000														66			33		0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167747817	167747817	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:167747817G>A	uc011bpe.1	-	9	1528	c.1184C>T	c.(1183-1185)cCt>cTt	p.P395L	GOLIM4_uc003ffe.2_Missense_Mutation_p.P395L|GOLIM4_uc011bpf.1_Missense_Mutation_p.P367L|GOLIM4_uc011bpg.1_Missense_Mutation_p.P367L	NM_014498	NP_055313	O00461	GOLI4_HUMAN	Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA.	395	Glu-rich.				transport	Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTTGGCTGAAGGGTACACCTA	0.522000														60			31		0	0	1	0	0
EID2B	126272	broad.mit.edu	37	19	40023290	40023290	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40023290G>A	uc002olz.1	-	0	205	c.153C>T	c.(151-153)gcC>gcT	p.A51A		NM_152361	NP_689574	Q96D98	EID2B_HUMAN	Homo sapiens EP300 interacting inhibitor of differentiation 2B (EID2B), mRNA.	51					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCGCAGCTTCGGCCACTGGGC	0.756000														13			6		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119288083	119288083	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:119288083C>T	uc003pyj.3	-	14	3298	c.2950G>A	c.(2950-2952)Gaa>Aaa	p.E984K	FAM184A_uc003pyk.4_Missense_Mutation_p.E815K|FAM184A_uc003pyl.4_Missense_Mutation_p.E815K|FAM184A_uc003pyi.3_Non-coding_Transcript	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	984										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GGTTTTGATTCTCTCATTAGA	0.294000														20			16		0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8376785	8376785	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:8376785G>A	uc010idk.3	-	14	1893	c.1748C>T	c.(1747-1749)tCg>tTg	p.S583L	ACOX3_uc003glc.4_Missense_Mutation_p.S583L|ACOX3_uc003gld.4_Missense_Mutation_p.S583L	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	583					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GGCCCGCAGCGAGGGCGGCAC	0.701000														3			3		0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111889718	111889718	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:111889718G>A	uc001pml.3	+	20	2304	c.2007G>A	c.(2005-2007)ggG>ggA	p.G669G	DIXDC1_uc001pmm.3_Silent_p.G458G|DIXDC1_uc001pmn.3_Silent_p.G376G|DIXDC1_uc010rwq.2_Silent_p.G335G	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1, mRNA.	670	DIX.				Wnt receptor signaling pathway|multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GATGGGAAGGGAAAATTGTAG	0.428000														74			28		0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60919446	60919446	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:60919446C>T	uc002agv.3	-	0	284	c.128G>A	c.(127-129)gGa>gAa	p.G43E	RORA_uc002agw.3_Missense_Mutation_p.G43E|RORA_uc002agx.3_Intron	NM_134260	NP_599022	P35398	RORA_HUMAN	Homo sapiens RAR-related orphan receptor A (RORA), transcript variant 2, mRNA.	43	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.G43K(2)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						ccttctggCTCCTTCACCTGC	0.537000														70			6		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48965291	48965291	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48965291G>A	uc010kyv.1	+	0	1135	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		GGCTGGAAGGGGACTATTTTC	0.512000														122			12		0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6013256	6013256	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:6013256G>A	uc003zjr.3	-	0	2385	c.2352C>T	c.(2350-2352)tcC>tcT	p.S784S	RANBP6_uc011lmf.2_Silent_p.S432S|RANBP6_uc003zjs.3_3'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	784					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TAACTTCAATGGACTTTGCAA	0.388000														81			66		0	0	1	0	0
RPL18	6141	broad.mit.edu	37	19	49119388	49119388	+	Silent	SNP	G	A	A	rs138053229	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49119388G>A	uc002pjq.1	-	4	402	c.369C>T	c.(367-369)ttC>ttT	p.F123F	FAM83E_uc002pjn.2_5'Flank|RPL18_uc010xzs.1_3'UTR	NM_000979	NP_000970	Q07020	RL18_HUMAN	Homo sapiens ribosomal protein L18 (RPL18), mRNA.	123					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		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;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		CCAGCTGGTCGAAAGTGAGGA	0.642000														54			20		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509413	228509413	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228509413G>A	uc009xez.1	+	54	14915	c.14871G>A	c.(14869-14871)ctG>ctA	p.L4957L	OBSCN_uc001hsn.3_Silent_p.L4957L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4957	Ig-like 48.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTCTCTGCTGATCACTGGCC	0.612000														53			22		0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91034604	91034604	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:91034604C>T	uc002bpl.1	+	33	4389	c.4288C>T	c.(4288-4290)Cgt>Tgt	p.R1430C	IQGAP1_uc010uqg.1_Missense_Mutation_p.R51C	NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	1430	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ACGTGCTATCCGTGATGCCAA	0.408000														83			13		0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19062482	19062482	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:19062482C>T	uc001bay.3	+	7	2110	c.1512C>T	c.(1510-1512)tcC>tcT	p.S504S	PAX7_uc001baz.3_Silent_p.S502S|PAX7_uc010oct.2_Intron	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	504					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ggggaatgtccatttcacaga	0.542000			T	FOXO1A	alveolar rhabdomyosarcoma									12			11		0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96420455	96420455	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:96420455C>T	uc004aub.3	+	9	1323	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	PHF2_uc011lug.1_Silent_p.P275P	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	392					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGCAGCTGCCCCCTCATCTAG	0.557000														24			4		0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135447811	135447811	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135447811G>A	uc004cbn.3	+	6	925	c.877G>A	c.(877-879)Gat>Aat	p.D293N	C9orf171_uc004cbo.3_Missense_Mutation_p.D257N	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	293										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CACGGAGGCCGATCGCCAGAG	0.622000														57			34		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54760539	54760539	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54760539C>T	uc010yer.1	-	2	279	c.168G>A	c.(166-168)gaG>gaA	p.E56E	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.E56E|LILRB5_uc002qez.3_Silent_p.E56E|LILRB5_uc002qex.3_Silent_p.E56E|LILRB5_uc002qfa.1_Silent_p.E46E|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	56	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACGGTACTCCTCAGTCTCCA	0.627000														117			58		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214814107	214814107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:214814107C>T	uc001hkm.3	+	11	2600	c.2426C>T	c.(2425-2427)tCa>tTa	p.S809L		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	809					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGCATGCCTTCAGAGAGGAGT	0.388000														42			17		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915564	119915564	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:119915564G>A	uc003vjj.1	+	0	1843	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	293					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)					GTCACACTCCGAGTCTTCCGG	0.527000														31			14		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813468	106813469	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:106813468_106813469CC>TT	uc003ymd.3	+	7	1181_1182	c.1158_1159CC>TT	c.(1156-1161)gtccct>gtTTct	p.P387S	ZFPM2_uc011lhs.2_Missense_Mutation_p.P118S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	387					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGCTCCATGTCCCTAGCGGCAA	0.510000														99			60		0	0	1	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44420687	44420688	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44420687_44420688GG>AA	uc002xpk.3	+	0	112_113	c.44_45GG>AA	c.(43-45)ggg>gAA	p.G15E	WFDC3_uc002xpf.1_5'Flank|WFDC3_uc002xpj.1_5'Flank|WFDC3_uc002xph.1_5'Flank|WFDC3_uc010ghh.1_5'Flank	NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.	15						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GGACCTAGCGGGGCCGAGAGGG	0.752000														11			4		0	0	1	0	0
SGCD	6444	broad.mit.edu	37	5	155771593	155771593	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:155771593G>A	uc003lwc.4	+	2	617	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	SGCD_uc003lwa.1_Missense_Mutation_p.R33Q|SGCD_uc003lwb.3_Missense_Mutation_p.R33Q|SGCD_uc003lwd.4_Missense_Mutation_p.R32Q	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.	32					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCGGAAACGATGCCTGTAT	0.483000														81			9		0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46978120	46978120	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:46978120C>T	uc001cpx.3	+	3	1118	c.1103C>T	c.(1102-1104)gCc>gTc	p.A368V	DMBX1_uc001cpw.3_Missense_Mutation_p.A363V	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	368					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CGGCTCCGGGCCAAGCAGCAC	0.637000														119			12		0	0	1	0	0
ZNF18	7566	broad.mit.edu	37	17	11881772	11881772	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11881772G>A	uc002gng.1	-	8	1757	c.1152C>T	c.(1150-1152)acC>acT	p.T384T	ZNF18_uc002gnh.1_Silent_p.T384T|ZNF18_uc002gni.1_Silent_p.T383T	NM_144680	NP_653281	P17022	ZNF18_HUMAN	Homo sapiens zinc finger protein 18 (ZNF18), mRNA.	384					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CAAGCCACATGGTGGACATTT	0.532000														63			19		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103202396	103202396	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:103202396G>A	uc022ajr.1	-	34	5375	c.5215C>T	c.(5215-5217)Ccc>Tcc	p.P1739S	RELN_uc022ajq.1_Missense_Mutation_p.P1739S|RELN_uc010liz.3_Missense_Mutation_p.P1739S	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1739					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	p.S1738Y(1)		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)		CGGGTCCTGGGAGAACTAACC	0.433000														16			7		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154067584	154067584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154067584C>T	uc001fdw.3	-	14	2086	c.2014G>A	c.(2014-2016)Gaa>Aaa	p.E672K	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.E672K	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	672						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AATACCATTTCCTTCACAGAC	0.408000														40			21		0	0	1	0	0
LEMD1	93273	broad.mit.edu	37	1	205388426	205388426	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205388426G>A	uc001hcj.2	-	2	272	c.137C>T	c.(136-138)cCc>cTc	p.P46L	LEMD1_uc001hcl.2_Intron|LEMD1_uc001hci.2_Missense_Mutation_p.P46L|LEMD1_uc001hcm.2_Intron|LEMD1_uc001hcn.2_Intron|LEMD1_uc001hck.2_Non-coding_Transcript	NM_001199050	NP_001185979	Q68G75	LEMD1_HUMAN	Homo sapiens LEM domain containing 1 (LEMD1), transcript variant 1, mRNA.	46						integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			TGGTGCACAGGGAGGTGAGAC	0.448000														117			49		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57762304	57762304	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:57762304G>A	uc002emi.3	+	15	2288	c.2199G>A	c.(2197-2199)gaG>gaA	p.E733E	CCDC135_uc002emj.3_Silent_p.E733E|CCDC135_uc002emk.3_Silent_p.E668E	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	733						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTTTACAGGAGCGCATGATGC	0.587000														124			54		0	0	1	0	0
GPR19	2842	broad.mit.edu	37	12	12814457	12814457	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:12814457G>A	uc001rar.3	-	1	1119	c.926C>T	c.(925-927)tCc>tTc	p.S309F	GPR19_uc001raq.2_Missense_Mutation_p.S309F|GPR19_uc021qvj.1_Missense_Mutation_p.S309F	NM_006143	NP_006134	Q15760	GPR19_HUMAN	Homo sapiens G protein-coupled receptor 19 (GPR19), mRNA.	309						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GAAAACAAGGGAACTTTTCTT	0.388000														64			25		0	0	1	0	0
DAPP1	27071	broad.mit.edu	37	4	100738117	100738117	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:100738117C>T	uc003hvf.4	+	0	137	c.47C>T	c.(46-48)cCc>cTc	p.P16L	DAPP1_uc011cek.2_Missense_Mutation_p.P16L|DAPP1_uc010ilh.3_Missense_Mutation_p.P16L	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN	Homo sapiens dual adaptor of phosphotyrosine and 3-phosphoinositides (DAPP1), mRNA.	16					signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		ACCCAGGATCCCTCAGATCTG	0.552000														12			4		0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112989677	112989677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:112989677C>T	uc003dzx.3	+	5	1174	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	BOC_uc010hqi.3_Missense_Mutation_p.L185F|BOC_uc003dzy.3_Missense_Mutation_p.L185F|BOC_uc003dzz.3_Missense_Mutation_p.L185F|BOC_uc003eab.3_5'UTR	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	185	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTCAGGGAACCTCCAGATTGT	0.562000														85			27		0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12225853	12225854	+	Silent	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:12225853_12225854CC>TT	uc001mjz.3	+	3	609_610	c.321_322CC>TT	c.(319-324)tacctg>taTTtg	p.107_108YL>YL	MICAL2_uc010rch.1_Silent_p.107_108YL>YL|MICAL2_uc001mjy.3_Silent_p.107_108YL>YL|MICAL2_uc001mka.3_Silent_p.107_108YL>YL|MICAL2_uc010rci.2_Silent_p.107_108YL>YL|MICAL2_uc001mkb.3_Silent_p.107_108YL>YL|MICAL2_uc001mkc.3_Silent_p.107_108YL>YL	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	107						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AACTTGCCTACCTGGGAGCCAA	0.569000														56			10		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887095	9887096	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:9887095_9887096GG>AA	uc002koi.4	+	1	1068_1069	c.619_620GG>AA	c.(619-621)ggt>AAt	p.G207N	TXNDC2_uc002koh.4_Missense_Mutation_p.G140N|TXNDC2_uc021ugx.1_Missense_Mutation_p.G140N	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	207	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GCCCAAAGAGGGTGACATCCCC	0.569000														170			55		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181689353	181689353	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181689353C>T	uc009wxt.3	+	13	1958	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	CACNA1E_uc001gow.3_Missense_Mutation_p.S588F|CACNA1E_uc009wxs.3_Missense_Mutation_p.S588F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	588					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						TATTGGGCTTCCCTACGGAAT	0.473000														45			21		0	0	1	0	0
GPR15	2838	broad.mit.edu	37	3	98251249	98251249	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:98251249C>T	uc011bgy.2	+	0	372	c.372C>T	c.(370-372)ctC>ctT	p.L124L		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	124						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TCCTCCTGCTCACTTGCATGA	0.512000														61			9		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111997701	111997701	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:111997701G>A	uc003dyu.3	-	3	415	c.193C>T	c.(193-195)Caa>Taa	p.Q65*	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Nonsense_Mutation_p.Q65*	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	65					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GCGTATCTTTGGACCTAATAT	0.323000														100			37		0	0	1	0	0
RGS1	5996	broad.mit.edu	37	1	192545472	192545472	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:192545472G>A	uc001gsi.1	+	1	261	c.195G>A	c.(193-195)atG>atA	p.M65I	RGS1_uc010pou.1_Missense_Mutation_p.M65I	NM_002922	NP_002913	Q08116	RGS1_HUMAN	Homo sapiens regulator of G-protein signaling 1 (RGS1), mRNA.	65					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				AATCTGGAATGAAATCTTCCA	0.343000														49			24		0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869096	22869096	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22869096C>T	uc002zwe.3	-	1	1112	c.859G>A	c.(859-861)Gat>Aat	p.D287N	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.D287N	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GGCTGCCCATCTCCTTTATGC	0.383000														191			18		0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104129725	104129725	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104129725C>T	uc001kux.2	+	25	3614	c.3320C>T	c.(3319-3321)gCc>gTc	p.A1107V	GBF1_uc001kuy.2_Missense_Mutation_p.A1107V|GBF1_uc001kuz.2_Missense_Mutation_p.A1108V	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1107					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AAGAGAGTGGCCTTAGAGTGT	0.483000														58			27		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19183983	19183983	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:19183983G>A	uc001bba.1	-	1	326	c.325C>T	c.(325-327)Cag>Tag	p.Q109*		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	109					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGCACCGGCTGGACATTGTTG	0.552000														91			32		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76790259	76790259	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:76790259C>T	uc001jwn.1	+	17	6170	c.5677C>T	c.(5677-5679)Ccg>Tcg	p.P1893S	KAT6B_uc001jwo.1_Missense_Mutation_p.P1601S|KAT6B_uc001jwp.1_Missense_Mutation_p.P1710S	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1893	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GAATCTGCCGCCGCCTCTTTT	0.552000														199			80		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105840406	105840406	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105840406C>T	uc001kxr.3	-	1	195	c.26G>A	c.(25-27)cGa>cAa	p.R9Q	COL17A1_uc010qqv.1_Missense_Mutation_p.R9Q|COL17A1_uc009xxp.1_Missense_Mutation_p.R9Q	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	9	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGTTCCATCTCGTTTGTTTTT	0.308000														87			32		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9434089	9434089	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9434089G>A	uc021wam.1	+	28	2955	c.2940G>A	c.(2938-2940)gaG>gaA	p.E980E	PLCB4_uc010gbw.1_Silent_p.E980E|PLCB4_uc010gbx.3_Silent_p.E992E|PLCB4_uc021wal.1_Silent_p.E980E|PLCB4_uc002wnh.3_Silent_p.E827E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	980					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAATCCTAGAGAAGGCAATGA	0.388000														76			8		0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131261477	131261477	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:131261477C>T	uc011blq.2	-	14	1627	c.1517G>A	c.(1516-1518)gGg>gAg	p.G506E	CPNE4_uc003eok.3_Missense_Mutation_p.G488E|CPNE4_uc003eol.3_Missense_Mutation_p.G506E|CPNE4_uc003eom.3_Missense_Mutation_p.G488E|CPNE4_uc003eoj.3_Missense_Mutation_p.G39E	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	488	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CCTCAGAATCCCATCATCACC	0.537000														78			22		0	0	1	0	0
GPR126	57211	broad.mit.edu	37	6	142691444	142691444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:142691444G>A	uc010khe.3	+	3	994	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	GPR126_uc010khc.3_Missense_Mutation_p.E195K|GPR126_uc010khd.3_Missense_Mutation_p.E195K|GPR126_uc010khf.3_Missense_Mutation_p.E195K|GPR126_uc003qix.2_Missense_Mutation_p.E195K	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	195	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AGTTGGCCATGAAGACAGTGA	0.438000														24			14		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427572	135427572	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:135427572G>A	uc004ezu.1	+	5	1998	c.1707G>A	c.(1705-1707)gaG>gaA	p.E569E	GPR112_uc010nsb.1_Silent_p.E364E|GPR112_uc010nsc.1_Silent_p.E336E	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	569					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGGGACTGAGAGTGTACAGA	0.428000														36			29		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22735275	22735275	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22735275C>T	uc021wml.1	+	50		c.5821C>T								Parts of antibodies, mostly variable regions.																		TCCTCCTCACCCTCCTCACTC	0.577000														11			5		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642565	156642565	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156642565G>A	uc001fpq.3	-	3	1548	c.1415C>T	c.(1414-1416)cCt>cTt	p.P472L	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	472	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAGTGGTCAGGGCTGAGGGG	0.612000														180			20		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44019227	44019227	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44019227C>T	uc001cjr.3	+	3	496	c.156C>T	c.(154-156)ttC>ttT	p.F52F	PTPRF_uc001cjq.4_Silent_p.F52F|PTPRF_uc001cjs.3_Silent_p.F52F|PTPRF_uc001cjt.4_Silent_p.F52F	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	52	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TAGCCTCCTTCGTGTGCCAAG	0.562000														240			98		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41689911	41689912	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:41689911_41689912CC>TT	uc003gvz.4	+	28	4560_4561	c.4143_4144CC>TT	c.(4141-4146)acccct>acTTct	p.P1382S	LIMCH1_uc003gwe.4_Intron|LIMCH1_uc003gvu.4_Missense_Mutation_p.P998S|LIMCH1_uc003gvv.4_Intron|LIMCH1_uc003gvw.4_Intron|LIMCH1_uc003gvx.4_Intron|LIMCH1_uc003gvy.4_Intron|LIMCH1_uc003gwa.4_Intron|LIMCH1_uc011byu.2_Missense_Mutation_p.P831S|LIMCH1_uc003gwc.4_Intron|LIMCH1_uc003gwd.4_Intron|LIMCH1_uc011byv.2_Missense_Mutation_p.P748S|LIMCH1_uc011byw.2_Intron	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	998					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTTCTCCCACCCCTCCCGGTCA	0.485000														82			24		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18876381	18876381	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:18876381G>A	uc021qvx.1	-	3	422	c.231C>T	c.(229-231)ttC>ttT	p.F77F	PLCZ1_uc001rdv.4_5'UTR|PLCZ1_uc001rdw.4_Intron	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	77					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AATATGTGTTGAAAATCTCAA	0.348000														52			23		0	0	1	0	0
UBXN2B	137886	broad.mit.edu	37	8	59345768	59345768	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:59345768C>T	uc003xtl.3	+	3	511	c.389C>T	c.(388-390)tCt>tTt	p.S130F		NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN	Homo sapiens UBX domain protein 2B (UBXN2B), mRNA.	130						Golgi apparatus|cytosol|endoplasmic reticulum|nucleus		p.R129L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						TGTAAGCGGTCTGAATATATC	0.308000														206			81		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118651	118651	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000205.1:118651G>A	uc002kgk.4	+	0		c.2029G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TCTGCTTACGGAAGCTCTGAA	0.373000														10			4		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133900636	133900636	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133900636C>T	uc003ytw.3	+	9	2625	c.2584C>T	c.(2584-2586)Ctc>Ttc	p.L862F		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	862	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGAGAATATCCTCCTGGAGCC	0.537000														46			13		0	0	1	0	0
CACNG8	59283	broad.mit.edu	37	19	54466657	54466657	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54466657C>T	uc002qcs.2	+	0	368	c.261C>T	c.(259-261)ctC>ctT	p.L87L		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 8 (CACNG8), mRNA.	87					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		ACTCGGGCCTCTGGAGGATCT	0.771000														15			4		0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113235516	113235516	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:113235516C>T	uc001eck.3	+	6	1375	c.1105C>T	c.(1105-1107)Cct>Tct	p.P369S	MOV10_uc001ecl.2_Missense_Mutation_p.P369S|MOV10_uc001ecn.3_Missense_Mutation_p.P369S|MOV10_uc001ecm.3_Missense_Mutation_p.P309S|MOV10_uc009wgj.1_Missense_Mutation_p.P309S	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	369					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GACCTGGGACCCTGTGGACCA	0.612000														21			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179632515	179632515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179632515G>A	uc021vsy.1	-	39	9667	c.9442C>T	c.(9442-9444)Cgc>Tgc	p.R3148C	TTN_uc021vsz.1_Missense_Mutation_p.R3102C|TTN_uc021vta.1_Missense_Mutation_p.R3102C|TTN_uc021vtb.1_Missense_Mutation_p.R3102C|TTN_uc002unb.2_Missense_Mutation_p.R3148C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3148							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R3147Q(2)|p.R3147*(2)		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)			CTTCGGATGCGAACATCTCTG	0.398000														177			52		0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40430940	40430940	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:40430940C>T	uc001cev.3	+	3	631	c.450C>T	c.(448-450)ccC>ccT	p.P150P	MFSD2A_uc010ojb.1_Silent_p.P100P|MFSD2A_uc001ceu.3_Silent_p.P137P|MFSD2A_uc010ojc.2_5'UTR|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	150					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGTTCGTGCCCGACTTCCCAC	0.567000														100			6		0	0	1	0	0
CXorf65	158830	broad.mit.edu	37	X	70325897	70325897	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:70325897G>T	uc011mpo.2	-	2	435	c.203C>A	c.(202-204)aCa>aAa	p.T68K	CXorf65_uc011mpp.2_Missense_Mutation_p.T20K	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	Homo sapiens chromosome X open reading frame 65 (CXorf65), transcript variant 1, mRNA.	68										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						GCTTCGAGCTGTAAGGTATTT	0.473000														14			32		9.65021e-13	9.69117e-13	1	1	0
PGC	5225	broad.mit.edu	37	6	41704679	41704679	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:41704679G>A	uc003ora.2	-	8	1145	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	TFEB_uc003oqs.1_5'Flank|TFEB_uc003oqt.1_5'Flank|TFEB_uc003oqu.1_5'Flank|TFEB_uc010jxq.1_5'Flank	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	360					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			AGGATCCACAGGGGCTGGCCG	0.562000														57			20		0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85566375	85566375	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:85566375G>A	uc011ccv.2	+	12	1651	c.1153_splice	c.e12-1	p.D385_splice	CDS1_uc010ike.1_Splice_Site_p.D149_splice	NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	385					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GTTTCTAAAGGATTTTGCAAA	0.338000														63			23		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120871407	120871407	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:120871407G>A	uc003eec.4	+	8	893	c.753_splice	c.e8+1	p.E251_splice	STXBP5L_uc011bji.2_Splice_Site_p.E251_splice	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	251					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATTATGATGAGGTAAGTGATT	0.353000														54			27		0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160811241	160811241	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160811241C>T	uc009wtq.3	-	2	654	c.429G>A	c.(427-429)ggG>ggA	p.G143G	CD244_uc001fxa.3_Silent_p.G138G|CD244_uc009wtr.3_Intron|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Intron	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	143	Ig-like 2.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCAGGATCTTCCCCTGCCCCT	0.507000														82			34		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61623180	61623180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61623180G>A	uc002jay.3	+	13	2982	c.2902G>A	c.(2902-2904)Gaa>Aaa	p.E968K	KCNH6_uc010wpl.2_Missense_Mutation_p.E809K|KCNH6_uc010wpm.2_Missense_Mutation_p.E932K|KCNH6_uc002jaz.1_Missense_Mutation_p.E879K	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	968					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CTCCCTCCCTGAACACCTTGG	0.562000														77			32		0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584754	1584754	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:1584754C>T	uc022brv.1	-	0	698	c.698G>A	c.(697-699)aGg>aAg	p.R233K	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.R233K	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	233						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACCGCGCGCCTCCGCTGCTC	0.662000			T	CRLF2	"""B-ALL, Downs associated ALL"""									18			11		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4945269	4945269	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:4945269C>T	uc002cyd.1	-	10	1325	c.1235G>A	c.(1234-1236)gGg>gAg	p.G412E		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	412					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CACCTGCTCCCCCTCAAAGTC	0.627000														46			15		0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120085516	120085516	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:120085516A>T	uc003icp.4	+	4	740	c.527A>T	c.(526-528)aAg>aTg	p.K176M		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	176							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CCTGAAGGAAAGGCAGAACTG	0.423000														76			27		0	0	1	0	0
SCP2	6342	broad.mit.edu	37	1	53413730	53413730	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:53413730G>A	uc001cur.2	+	2	345	c.177G>A	c.(175-177)caG>caA	p.Q59Q	SCP2_uc010ono.2_5'UTR|SCP2_uc010onp.2_Intron|SCP2_uc009vzi.2_Silent_p.Q59Q|SCP2_uc001cus.2_5'UTR|SCP2_uc001cuq.2_Silent_p.Q59Q	NM_002979	NP_001180546	P22307	NLTP_HUMAN	Homo sapiens sterol carrier protein 2 (SCP2), transcript variant 1, mRNA.	59					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CAGTGGACCAGGCATGTGTTG	0.348000														178			46		0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68250149	68250149	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:68250149G>A	uc001xka.2	-	20	3859	c.3720C>T	c.(3718-3720)tcC>tcT	p.S1240S	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Silent_p.S1240S	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1240					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGCTTTGCCGGGATGAGCAAA	0.592000														69			40		0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30034149	30034149	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:30034149C>T	uc021qfi.1	-	0	77	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	KCNA4_uc001msk.3_Missense_Mutation_p.R26Q	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	26						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CTCCCGGGCCCGGGCCTGGGC	0.627000														132			27		0	0	1	0	0
RPL18	6141	broad.mit.edu	37	19	49120585	49120585	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49120585G>A	uc002pjq.1	-	2	219	c.186C>T	c.(184-186)tcC>tcT	p.S62S	RPL18_uc010xzs.1_Silent_p.S62S|RPL18_uc021uwv.1_Silent_p.S62S|SPHK2_uc010xzt.2_5'Flank|SPHK2_uc002pjt.3_5'Flank|SPHK2_uc002pjr.3_5'Flank|SPHK2_uc002pjs.3_5'Flank	NM_000979	NP_000970	Q07020	RL18_HUMAN	Homo sapiens ribosomal protein L18 (RPL18), mRNA.	62				S -> C (in Ref. 3; AAH21743).	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		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;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		TCCGGGAAAGGGACAGAGGCG	0.562000														167			56		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77283313	77283313	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77283313C>T	uc003hkb.4	-	11	2139	c.1986G>A	c.(1984-1986)gtG>gtA	p.V662V		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	662										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TACTTGTTTTCACCTCATTTA	0.418000														90			33		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43507420	43507420	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43507420G>A	uc001zrb.4	-	2	693	c.393C>T	c.(391-393)tcC>tcT	p.S131S	EPB42_uc001zra.4_Silent_p.S101S|EPB42_uc010udm.2_Intron	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	101					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AGATGGTCCAGGACTGGGCAT	0.567000														76			31		0	0	1	0	0
FNDC9	408263	broad.mit.edu	37	5	156770210	156770210	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156770210G>A	uc003lwu.2	-	1	523	c.335C>T	c.(334-336)tCc>tTc	p.S112F	CYFIP2_uc021ygm.1_Intron|CYFIP2_uc011ddn.2_Intron|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Intron|CYFIP2_uc021ygo.1_Intron|CYFIP2_uc003lwt.3_Intron|CYFIP2_uc011ddp.2_Intron|FNDC9_uc021ygp.1_Missense_Mutation_p.S112F	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	Homo sapiens fibronectin type III domain containing 9 (FNDC9), mRNA.	112						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CACCCAAAGGGAGATCTGGGG	0.587000											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			16		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134973999	134973999	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:134973999G>A	uc001llz.1	+	0	29	c.28G>A	c.(28-30)Gat>Aat	p.D10N		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	10					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGCCGCGGCGGATCTTTACGA	0.756000														12			5		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134108468	134108468	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:134108468C>T	uc003ytw.3	+	42	7464	c.7423C>T	c.(7423-7425)Cct>Tct	p.P2475S	TG_uc010mdw.3_Missense_Mutation_p.P1234S|TG_uc011ljb.2_Missense_Mutation_p.P844S|TG_uc011ljc.2_Missense_Mutation_p.P608S|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2475					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CGTGAGTGGCCCTTTCCACTA	0.502000														160			75		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55699491	55699491	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55699491C>T	uc002qjq.3	-	12	2503	c.2430G>A	c.(2428-2430)agG>agA	p.R810R	PTPRH_uc010esv.3_Silent_p.R632R|BC034929_uc002qjr.3_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	810					apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TCTCATTCTTCCTGACGTGGT	0.572000														112			55		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82447513	82447513	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:82447513C>T	uc001dit.4	+	17	3265	c.3084C>T	c.(3082-3084)ttC>ttT	p.F1028F	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.F1028F|LPHN2_uc001div.3_Silent_p.F1028F|LPHN2_uc009wcd.3_Silent_p.F1028F|LPHN2_uc001diw.3_Silent_p.F612F|LPHN2_uc009wce.1_Silent_p.F129F	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1041					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.A1027S(1)|p.A1027T(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTGGCGCTTTCGCTCTTCTGT	0.383000														318			94		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215876180	215876180	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:215876180C>T	uc002vew.3	-	16	2535	c.2315G>A	c.(2314-2316)gGa>gAa	p.G772E	ABCA12_uc002vev.3_Missense_Mutation_p.G454E|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	772					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.G772E(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TATGGGAATTCCATATTTTGA	0.343000														39			17		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61873986	61873986	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61873986G>A	uc001jky.3	-	25	3283	c.2945C>T	c.(2944-2946)tCt>tTt	p.S982F	ANK3_uc001jkw.3_Missense_Mutation_p.S116F|ANK3_uc009xpa.3_Missense_Mutation_p.S116F|ANK3_uc001jkx.3_Missense_Mutation_p.S160F|ANK3_uc010qih.2_Missense_Mutation_p.S983F|ANK3_uc001jkz.4_Missense_Mutation_p.S976F|ANK3_uc001jla.1_Missense_Mutation_p.S48F|ANK3_uc001jlb.1_Missense_Mutation_p.S489F	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	982	ZU5.				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						TACTTACCCAGAATGAATGGG	0.348000														48			18		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922731	24922731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24922731C>T	uc001ywo.3	+	0	2191	c.1717C>T	c.(1717-1719)Cct>Tct	p.P573S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	573					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)		TGCGGTAGACCCTGAAGTAGT	0.463000														87			39		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	122075631	122075631	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:122075631C>T	uc004bkc.2	-	1	459	c.3G>A	c.(1-3)atG>atA	p.M1I	DBC1_uc004bkd.2_Missense_Mutation_p.M1I	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	1					cell cycle arrest|cell death	cytoplasm	protein binding			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						ACCTCCAGTTCATGCTTTTCT	0.453000														38			10		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41559131	41559131	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:41559131C>T	uc003xok.3	-	21	2482	c.2398G>A	c.(2398-2400)Gat>Aat	p.D800N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.D108N|ANK1_uc003xoi.3_Missense_Mutation_p.D800N|ANK1_uc003xoj.3_Missense_Mutation_p.D800N|ANK1_uc003xol.3_Missense_Mutation_p.D800N|ANK1_uc003xom.3_Missense_Mutation_p.D833N	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	800	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGATGCTTATCACTGACTAAC	0.483000											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			25		0	0	1	0	0
CD3E	916	broad.mit.edu	37	11	118183390	118183390	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118183390G>A	uc001psq.4	+	5	417	c.161G>A	c.(160-162)gGa>gAa	p.G54E	CD3E_uc010rya.2_Missense_Mutation_p.G54E	NM_000733	NP_000724	P07766	CD3E_HUMAN	Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	54	Ig-like.				G-protein coupled receptor protein signaling pathway|T cell costimulation|T cell receptor signaling pathway|signal complex assembly|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	SH3 domain binding|T cell receptor binding|protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	CAGTATCCTGGATCTGAAATA	0.413000														176			90		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216155	55216156	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55216155_55216156GG>AA	uc003pcm.1	+	4	561_562	c.475_476GG>AA	c.(475-477)gga>AAa	p.G159K		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	159						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTCAGCAAATGGAAATCCGTGT	0.455000														212			74		0	0	1	0	0
FATE1	89885	broad.mit.edu	37	X	150891177	150891177	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:150891177C>T	uc004fex.3	+	4	582	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.	166						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGATCATCGCCGTGCTGG	0.652000														19			28		0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151105886	151105886	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151105886G>A	uc001ewv.3	-	19	2299	c.1963C>T	c.(1963-1965)Ctc>Ttc	p.L655F	SEMA6C_uc001ewu.3_Missense_Mutation_p.L623F|SEMA6C_uc001eww.3_Missense_Mutation_p.L615F	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	623						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGACCAGGAGGCCAGAGACT	0.721000														15			4		0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31474869	31474869	+	Silent	SNP	C	T	T	rs143678527	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31474869C>T	uc003ntn.4	+	3	800	c.684C>T	c.(682-684)tcC>tcT	p.S228S	MICB_uc011dnm.2_Silent_p.S196S|MICB_uc021yuq.1_Silent_p.S196S|MICB_uc003nto.4_Silent_p.S185S	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	228	Ig-like C1-type.				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	MHC class I protein complex|integral to plasma membrane	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GCAGGGCTTCCAGCTTCTATC	0.577000														51			15		0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54140117	54140117	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54140117C>T	uc002qcf.1	+	2	502	c.451C>T	c.(451-453)Cat>Tat	p.H151Y		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	151						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CAGAATAGTCCATTTTGGCTG	0.522000														135			61		0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35547981	35547981	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:35547981C>T	uc011dte.1	-	8	1061	c.858G>A	c.(856-858)caG>caA	p.Q286Q	FKBP5_uc003okx.2_Silent_p.Q286Q|FKBP5_uc011dtf.1_Silent_p.Q107Q|FKBP5_uc003oky.2_Silent_p.Q286Q	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	286					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GAATCACCGCCTGCATGTATT	0.428000														246			22		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913431	6913431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6913431G>A	uc010rau.2	-	0	301	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAAAAGAGAAGTCGAGCTGCG	0.478000														64			21		0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285806	44285806	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:44285806G>A	uc010qfe.1	-	0	60	c.30C>T	c.(28-30)ccC>ccT	p.P10P						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		AGTCGGGCTGGGGGCAACCAG	0.572000														34			4		0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38234401	38234401	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:38234401G>A	uc001zjw.3	+	7	616	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	TMCO5A_uc001zjv.1_Missense_Mutation_p.E172K|TMCO5A_uc010bbc.1_Missense_Mutation_p.E172K	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	172						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GAAGTACCAGGAAACGTTGAA	0.368000														140			65		0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44189219	44189219	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:44189219G>A	uc002zbm.3	+	16	1607	c.1544G>A	c.(1543-1545)gGg>gAg	p.G515E	PDE9A_uc002zbn.3_Missense_Mutation_p.G388E|PDE9A_uc002zbo.3_Missense_Mutation_p.G462E|PDE9A_uc002zbp.3_Missense_Mutation_p.G308E|PDE9A_uc002zbq.3_Missense_Mutation_p.G413E|PDE9A_uc002zbs.3_Missense_Mutation_p.G308E|PDE9A_uc002zbr.3_Missense_Mutation_p.G308E|PDE9A_uc002zbt.3_Missense_Mutation_p.G387E|PDE9A_uc002zbu.3_Missense_Mutation_p.G381E|PDE9A_uc002zbv.3_Missense_Mutation_p.G355E|PDE9A_uc002zbw.3_Missense_Mutation_p.G298E|PDE9A_uc002zbx.3_Missense_Mutation_p.G455E|PDE9A_uc002zby.3_Missense_Mutation_p.G298E|PDE9A_uc002zbz.3_Missense_Mutation_p.G407E|PDE9A_uc002zca.3_Missense_Mutation_p.G474E|PDE9A_uc002zcb.3_Missense_Mutation_p.G489E|PDE9A_uc002zcc.3_Missense_Mutation_p.G414E|PDE9A_uc002zcd.3_Missense_Mutation_p.G429E|PDE9A_uc002zce.3_Missense_Mutation_p.G448E|PDE9A_uc002zcf.3_Missense_Mutation_p.G308E|PDE9A_uc002zcg.3_Missense_Mutation_p.G308E	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	515	Catalytic (By similarity).				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						GCCCAGATTGGGTTCATCAAG	0.507000														51			28		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610231	47610231	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47610231G>A	uc001cqv.1	+	7	958	c.907G>A	c.(907-909)Ggg>Agg	p.G303R	CYP4A22_uc009vyo.3_Missense_Mutation_p.G303R|CYP4A22_uc009vyp.3_Intron	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	303						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GATGGAGAATGGGAGCATCTT	0.537000														156			23		0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206224750	206224750	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:206224750G>A	uc001hds.2	+	0	468	c.310G>A	c.(310-312)Gac>Aac	p.D104N		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	104					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCAGGGCCCCGACCTCCTGTG	0.632000														53			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179429682	179429682	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179429682C>T	uc021vsy.1	-	274	73698	c.73473G>A	c.(73471-73473)ctG>ctA	p.L24491L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L18186L|TTN_uc021vta.1_Silent_p.L18119L|TTN_uc021vtb.1_Silent_p.L17994L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25418	Fibronectin type-III 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L24490L(1)		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)			CCTTAGAATCCAGTGGGGCAC	0.383000														129			40		0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89618454	89618454	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:89618454G>A	uc001dna.2	-	3	464	c.325C>T	c.(325-327)Cct>Tct	p.P109S	GBP2_uc001dmy.1_5'Flank	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	109						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TCACTCTTAGGGTCACTCTAG	0.443000														58			5		0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82937540	82937540	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:82937540G>A	uc003kim.3	-	3	911	c.840C>T	c.(838-840)ctC>ctT	p.L280L	HAPLN1_uc003kin.3_Silent_p.L280L	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	280	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CACCATCATTGAGACAAGCTT	0.512000														194			74		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101818645	101818645	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:101818645G>A	uc004azb.1	+	34	3502	c.3296G>A	c.(3295-3297)gGg>gAg	p.G1099E		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	1099	Triple-helical region 8 (COL8).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G1099W(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGGCCACCGGGGCCCCCGGGG	0.622000														59			19		0	0	1	0	0
MELK	9833	broad.mit.edu	37	9	36651812	36651812	+	Missense_Mutation	SNP	C	T	T	rs140963190		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:36651812C>T	uc003zzn.3	+	11	1129	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	MELK_uc011lpm.2_Missense_Mutation_p.R200C|MELK_uc011lpn.2_Missense_Mutation_p.R331C|MELK_uc011lpo.2_Missense_Mutation_p.R137C|MELK_uc010mll.3_Missense_Mutation_p.R299C|MELK_uc011lpp.2_Missense_Mutation_p.R283C|MELK_uc010mlm.3_Missense_Mutation_p.R260C|MELK_uc011lpr.2_Missense_Mutation_p.R260C|MELK_uc011lpq.2_Missense_Mutation_p.R137C|MELK_uc011lps.2_Missense_Mutation_p.R251C	NM_014791	NP_055606	Q14680	MELK_HUMAN	Homo sapiens maternal embryonic leucine zipper kinase (MELK), mRNA.	331						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			AAAACCAGTTCGTTTAAGGCT	0.468000														224			109		0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115760080	115760080	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:115760080C>T	uc011lwy.2	-	4	1699	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TCAGTACATTCATATGGTTTC	0.403000														64			7		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100395072	100395072	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100395072G>A	uc003uwj.3	+	46	8513	c.8348G>A	c.(8347-8349)aGa>aAa	p.R2783K	ZAN_uc003uwk.3_Missense_Mutation_p.R2692K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.R733K	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2784	VWFC 5.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCATTTACAGAACGAGGAGG	0.622000														51			17		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29848378	29848378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29848378G>A	uc002kxl.3	-	5	2143	c.2087C>T	c.(2086-2088)cCc>cTc	p.P696L	FAM59A_uc002kxk.2_Missense_Mutation_p.P695L	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	696										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						GGCTGACTTGGGACAACCAGA	0.547000														80			42		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124096194	124096194	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124096194G>A	uc010saf.2	+	0	797	c.797G>A	c.(796-798)gGg>gAg	p.G266E		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	266						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GTTTTCTTTGGGTCTGCAGCA	0.507000														42			32		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976126	131976126	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:131976126G>A	uc002tsn.2	+	0	203	c.151G>A	c.(151-153)Gac>Aac	p.D51N	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	51							ATP binding										AGACCACGACGACTCTGCTAT	0.597000														340			24		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71555572	71555572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:71555572C>T	uc004agu.3	+	13	1673	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	PIP5K1B_uc011lrq.2_Silent_p.S456S|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	456						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CCCTGGGATCCCGACACAGGC	0.433000														147			32		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106780570	106780570	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106780570G>A	uc021ser.1	-	655		c.18124C>T								Parts of antibodies, mostly variable regions.																		GCTTCAGGGAGAACTGGTTCT	0.537000														280			91		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8720369	8720369	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:8720369G>A	uc002knr.2	+	3	374	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	SOGA2_uc002knq.2_Missense_Mutation_p.E78K	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	429								p.E78K(1)									ATTGCACCACGAACTTAAGAC	0.463000														76			26		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2967321	2967321	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:2967321C>T	uc003bpc.3	+	12	1555	c.1216C>T	c.(1216-1218)Cca>Tca	p.P406S	CNTN4_uc003bpb.1_Missense_Mutation_p.P78S|CNTN4_uc021wsg.1_Missense_Mutation_p.P406S|CNTN4_uc003bpd.1_Missense_Mutation_p.P406S|CNTN4_uc003bpe.3_Missense_Mutation_p.P78S|CNTN4_uc003bpf.3_Missense_Mutation_p.P78S	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	406	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGCTGTAGGTCCAGATTTTTC	0.358000														125			33		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200739	132200739	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:132200739C>T	uc002tst.2	-	0	1729	c.1263G>A	c.(1261-1263)ggG>ggA	p.G421G						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		CCTGAACCTTCCCAAGCAGCT	0.642000														23			7		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7310207	7310207	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7310207C>T	uc001qss.3	+	15	3224	c.2686C>T	c.(2686-2688)Cca>Tca	p.P896S	CLSTN3_uc001qsr.3_Missense_Mutation_p.P884S|CLSTN3_uc001qst.3_Missense_Mutation_p.P292S	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	884					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CGGCGGGCCTCCAGGGGCCTC	0.642000														17			9		0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9990017	9990017	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:9990017G>A	uc001mib.2	-	13	1609	c.1471C>T	c.(1471-1473)Ctt>Ttt	p.L491F	SBF2_uc001mif.3_Missense_Mutation_p.L247F|SBF2_uc001mih.4_Missense_Mutation_p.L20F	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	491					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGGAAAGGAAGAATATGAACT	0.413000														235			52		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97158976	97158976	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:97158976C>T	uc021rcc.1	+	26	3614	c.3536C>T	c.(3535-3537)tCg>tTg	p.S1179L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1179										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTTTTGTCTTCGTATACAGAT	0.289000														73			26		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182885	140182885	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140182885C>T	uc003lhf.2	+	0	2103	c.2103C>T	c.(2101-2103)atC>atT	p.I701I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.I701I	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	709					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)			TGTACTTGATCGTCGCCATCT	0.662000														151			13		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664043	44664043	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44664043G>A	uc010zxl.1	+	3	293	c.217_splice	c.e3-1	p.E73_splice	SLC12A5_uc002xra.2_Splice_Site_p.E50_splice|SLC12A5_uc010zxm.1_Splice_Site|SLC12A5_uc002xrb.2_Splice_Site_p.E50_splice	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	73					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCCTCCATAGGAGGAGATGGA	0.592000														262			29		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760766	15760766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15760766C>T	uc010xok.2	+	6	741	c.691C>T	c.(691-693)Ctt>Ttt	p.L231F	CYP4F3_uc010xol.2_Missense_Mutation_p.L231F|CYP4F3_uc002nbj.3_Missense_Mutation_p.L231F|CYP4F3_uc010xom.2_Missense_Mutation_p.L82F|CYP4F3_uc002nbk.3_Missense_Mutation_p.L231F|CYP4F3_uc010xon.2_5'Flank	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	231					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCTCAGTGCCCTTGTGACAAA	0.527000														154			76		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52400880	52400880	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52400880G>A	uc011bef.2	+	35	6003	c.5742G>A	c.(5740-5742)gaG>gaA	p.E1914E		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1914	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTACGGGGAGTTTGACCTCC	0.622000														97			37		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31914248	31914248	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31914248G>A	uc003nyj.4	+	1	441	c.163G>A	c.(163-165)Ggc>Agc	p.G55S	CFB_uc011dor.2_Missense_Mutation_p.G557S|CFB_uc011dos.1_Missense_Mutation_p.G55S|CFB_uc003nyi.2_Missense_Mutation_p.G55S	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	55	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCTCCAAGAGGGCCAGGCACT	0.602000														61			28		0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67685211	67685211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67685211C>T	uc002etn.3	+	22	2426	c.2306C>T	c.(2305-2307)tCt>tTt	p.S769F	RLTPR_uc010cel.1_Missense_Mutation_p.S762F|RLTPR_uc010vjr.2_Missense_Mutation_p.S733F|RLTPR_uc010vjs.1_5'Flank	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	769										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCCAACTTCTCTCTCAGCGTG	0.612000														62			26		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108813853	108813853	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108813853C>T	uc003dxl.3	-	6	573	c.486G>A	c.(484-486)caG>caA	p.Q162Q	MORC1_uc011bhn.2_Silent_p.Q162Q	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	162					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.Q162R(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTGCAAATTTCTGGGGATCAT	0.323000														54			17		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27997756	27997756	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:27997756C>T	uc004dbx.1	-	0	1811	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	566								p.D566N(2)|p.R565*(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GCTCCATGATCTCTCCAGCCG	0.512000														69			12		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3329121	3329121	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3329121C>T	uc001akf.3	+	8	2442	c.2360C>T	c.(2359-2361)cCc>cTc	p.P787L	PRDM16_uc001ake.3_Missense_Mutation_p.P787L|PRDM16_uc009vlh.3_Missense_Mutation_p.P488L|PRDM16_uc001akc.3_Missense_Mutation_p.P787L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	787	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCATCCTGCCCATGCCCAAG	0.711000			T	EVI1	"""MDS, AML"""									62			6		0	0	1	0	0
TRIM61	391712	broad.mit.edu	37	4	165891019	165891019	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:165891019C>T	uc003iqw.3	-	2	747	c.136G>A	c.(136-138)Gat>Aat	p.D46N		NM_001012414	NP_001012414	Q5EBN2	TRI61_HUMAN	Homo sapiens tripartite motif containing 61 (TRIM61), mRNA.	46						intracellular	zinc ion binding			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		TCATGTAGATCCTTCCAGGAC	0.463000														116			27		0	0	1	0	0
BSND	7809	broad.mit.edu	37	1	55474208	55474208	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55474208G>A	uc001cye.3	+	3	1113	c.870G>A	c.(868-870)aaG>aaA	p.K290K		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	290						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						AACCTGAGAAGGAAGAGGAAG	0.582000														73			21		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21145707	21145707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21145707G>A	uc010vbe.2	-	6	955	c.955C>T	c.(955-957)Cct>Tct	p.P319S	DNAH3_uc002die.2_Missense_Mutation_p.P290S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	319	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTCTTTGAGGAAACAAGCGG	0.527000														127			34		0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22332005	22332005	+	Silent	SNP	C	T	T	rs150719625		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22332005C>T	uc001bfl.3	+	2	214	c.195C>T	c.(193-195)ccC>ccT	p.P65P	CELA3B_uc009vqf.3_Silent_p.P64P	NM_005747	NP_005738	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3A (CELA3A), mRNA.	65	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TCATCGCCCCCGATTGGGTTG	0.617000											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		118			13		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580266	140580266	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140580266C>T	uc003liy.3	+	0	919	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	307	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.P306H(1)		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)			AAGAGCACCTCTGGATTTTGA	0.358000														78			45		0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24789026	24789026	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24789026G>A	uc001wow.3	-	20	3074	c.2655C>T	c.(2653-2655)ttC>ttT	p.F885F	ADCY4_uc010toh.2_Silent_p.F571F|ADCY4_uc001wox.3_Silent_p.F885F|ADCY4_uc001woy.3_Silent_p.F885F	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	885					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATTCAGAGTAGAACTCCTTGA	0.488000														53			21		0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63276393	63276393	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63276393G>A	uc001nxc.2	+	2	712	c.371G>A	c.(370-372)tGg>tAg	p.W124*	LGALS12_uc001nxa.2_Nonsense_Mutation_p.W123*|LGALS12_uc001nxb.2_Nonsense_Mutation_p.W123*|LGALS12_uc001nxd.2_Nonsense_Mutation_p.W62*|LGALS12_uc001nxe.2_Nonsense_Mutation_p.W62*|LGALS12_uc009yot.2_Nonsense_Mutation_p.W83*	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	123	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GAGGCCCGGTGGCCCCACCTG	0.592000														73			18		0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76098601	76098601	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76098601C>T	uc002jud.2	+	18	5148	c.4548C>T	c.(4546-4548)ctC>ctT	p.L1516L	TNRC6C_uc002juf.2_Silent_p.L1552L	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1516	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCAGCTGGCTCGTTCTTCGAA	0.592000														17			6		0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59853806	59853806	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:59853806G>A	uc002izk.2	-	13	2359	c.2053C>T	c.(2053-2055)Cag>Tag	p.Q685*	BRIP1_uc002izl.1_Nonsense_Mutation_p.Q66*	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	685					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTCACAGTCTGGCACACAGAT	0.393000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						139			67		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431712	140431712	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140431712C>T	uc003lik.1	+	0	734	c.657C>T	c.(655-657)tcC>tcT	p.S219S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	219	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGCGGGTCCCCGCCTAAGT	0.592000														17			7		0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148963691	148963692	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:148963691_148963692CC>TT	uc011kuo.2	+	1	453_454	c.290_291CC>TT	c.(289-291)gcc>gTT	p.A97V	AF035281_uc003wfr.4_Non-coding_Transcript	NM_001195220	NP_001182149	C9J9J2	C9J9J2_HUMAN	Homo sapiens zinc finger family member 783 (ZNF783), mRNA.	97					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GGCAAGTGGGCCGTGCTGGGGA	0.629000														99			30		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941084	22941084	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22941084C>T	uc021urt.1	-	3	1782	c.1627G>A	c.(1627-1629)Ggc>Agc	p.G543S		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAGCTTTGCCACATTCTTCA	0.343000														72			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179659733	179659733	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179659733G>A	uc021vsy.1	-	6	1386	c.1161C>T	c.(1159-1161)acC>acT	p.T387T	TTN_uc021vsz.1_Silent_p.T387T|TTN_uc021vta.1_Silent_p.T387T|TTN_uc021vtb.1_Silent_p.T387T|TTN_uc002unb.2_Silent_p.T387T|TTN_uc010frg.1_Silent_p.T61T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	387							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)			CACCACTGATGGTCACTTGCT	0.557000														73			24		0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7698957	7698957	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:7698957G>A	uc003gkb.4	+	11	1624	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	SORCS2_uc011bwi.2_Missense_Mutation_p.E370K	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	542						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GGAATATAAAGAAGAAATGTA	0.547000														11			3		0	0	1	0	0
DHH	50846	broad.mit.edu	37	12	49483723	49483723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49483723G>A	uc001rtf.3	-	2	1417	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L		NM_021044	NP_066382	O43323	DHH_HUMAN	Homo sapiens desert hedgehog (DHH), mRNA.	370					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						CCCCGCCGGGGAGCAGCGCCC	0.652000														6			3		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220466101	220466102	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220466101_220466102CC>TT	uc002vml.3	+	2	282_283	c.239_240CC>TT	c.(238-240)tcc>tTT	p.S80F	STK11IP_uc010zlj.2_Missense_Mutation_p.S69F|STK11IP_uc010zlk.2_Missense_Mutation_p.S69F|STK11IP_uc010zll.2_Missense_Mutation_p.S69F|STK11IP_uc002vmm.1_Missense_Mutation_p.S69F	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	80					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCCGACTCCCCTGTTATTC	0.569000														50			16		0	0	1	0	0
TPSB2	64499	broad.mit.edu	37	16	1279691	1279691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1279691C>T	uc002cky.3	-	2	132	c.109G>A	c.(109-111)Gcc>Acc	p.A37T	TPSB2_uc010brk.1_Non-coding_Transcript|TPSB2_uc002ckx.3_5'UTR	NM_024164	NP_077078	P20231	TRYB2_HUMAN	Homo sapiens tryptase beta 2 (gene/pseudogene) (TPSB2), mRNA.	37	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				CTCCTGGGGGCCTCCTGACCC	0.701000														56			14		0	0	1	0	0
ISG20L2	81875	broad.mit.edu	37	1	156697137	156697137	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156697137G>A	uc001fps.1	-	0	569	c.308C>T	c.(307-309)cCt>cTt	p.P103L	ISG20L2_uc001fpt.1_Missense_Mutation_p.P103L|RRNAD1_uc001fpu.3_5'Flank|RRNAD1_uc001fpv.3_5'Flank	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.	103					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGAAGGGGCAGGGGTCAACCA	0.517000											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			39		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880658	142880658	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142880658C>T	uc011ksw.2	+	0	147	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	49					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TCATTGGTATCATTGCAAATG	0.408000														45			31		0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86523440	86523440	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:86523440G>A	uc004ana.3	-	2	570	c.426C>T	c.(424-426)gaC>gaT	p.D142D	KIF27_uc010mpw.3_Silent_p.D142D|KIF27_uc010mpx.3_Silent_p.D142D	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	142	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E141K(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GATCTCTTAGGTCTTCCTTGT	0.363000														112			32		0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31155072	31155072	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31155072C>T	uc002ebd.3	-	6	866	c.807G>A	c.(805-807)cgG>cgA	p.R269R	PRSS36_uc010vff.2_Silent_p.R44R|PRSS36_uc010vfg.2_Silent_p.R269R|PRSS36_uc010vfh.2_Silent_p.R269R	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	269	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GGCGGTTTCTCCGTCCACAGC	0.612000														53			16		0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58512360	58512360	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58512360C>T	uc003dkl.3	-	9	1354	c.1179G>A	c.(1177-1179)atG>atA	p.M393I		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	393					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCATGGCCTTCATGCCCGTGC	0.607000														57			8		0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169622102	169622102	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169622102G>A	uc002uec.1	+	9	970	c.846_splice	c.e9-1	p.W282_splice	CERS6_uc002ueb.1_Splice_Site_p.W282_splice	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	282	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TTTTCCTTAGGGTGTTAAATA	0.418000														76			23		0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16745363	16745363	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:16745363C>T	uc010exm.2	-	4	341	c.193_splice	c.e4-1	p.A65_splice	FAM49A_uc002rck.2_Splice_Site_p.A65_splice	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	65						intracellular		p.?(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TTTGAATTGCCTGCAAAAACA	0.373000														39			10		0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86772975	86772975	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:86772975C>T	uc004efa.2	+	0	261	c.79C>T	c.(79-81)Caa>Taa	p.Q27*	KLHL4_uc004efb.2_Nonsense_Mutation_p.Q27*	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	27						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TCATCCTTTTCAAGGTTCCAC	0.493000														22			46		0	0	1	0	0
ANKRD7	56311	broad.mit.edu	37	7	117874902	117874902	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:117874902G>A	uc003vji.3	+	2	615	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.	148					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GCTTGAATACGAAGCTGATCT	0.333000														45			10		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8601135	8601135	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8601135C>T	uc002mkg.3	-	19	2181	c.2043_splice	c.e19+1	p.S681_splice		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	681						unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AACACACTCACCGACTCTGGG	0.567000														102			16		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36230381	36230381	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:36230381G>A	uc003gsq.2	-	1	1066	c.728C>T	c.(727-729)tCc>tTc	p.S243F	ARAP2_uc003gsr.1_Missense_Mutation_p.S243F	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	243					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						AAAGAATGGGGATGGTGGTGA	0.393000														110			49		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325888	31325888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:31325888C>T	uc010dmg.1	+	11	6131	c.6076C>T	c.(6076-6078)Cct>Tct	p.P2026S	ASXL3_uc002kxq.2_Missense_Mutation_p.P1733S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	2026	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						tccccctccccctccaccctt	0.592000														11			6		0	0	1	0	0
FCGR2C	9103	broad.mit.edu	37	1	161569686	161569686	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161569686G>A	uc021pdi.1	+	6		c.1164G>A				NM_201563				Homo sapiens Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) (FCGR2C), mRNA.											lung(2)	2	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			aatggagactggaaaaattcc	0.383000														25			11		0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33650113	33650113	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:33650113G>A	uc021wvc.1	-	13	1608	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	CLASP2_uc021wvb.1_Missense_Mutation_p.S232L|CLASP2_uc021wvd.1_Missense_Mutation_p.S465L|CLASP2_uc003cfv.3_Missense_Mutation_p.S238L|CLASP2_uc011axu.1_Missense_Mutation_p.S242L|CLASP2_uc003cfw.2_Missense_Mutation_p.S238L|CLASP2_uc011axt.1_Missense_Mutation_p.S40L	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	466										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AAATTCAAATGAACGTCTGAA	0.343000														18			9		0	0	1	0	0
VPS37D	155382	broad.mit.edu	37	7	73085400	73085400	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:73085400C>T	uc003tyr.3	+	3	565	c.450C>T	c.(448-450)gcC>gcT	p.A150A		NM_001077621	NP_001071089	Q86XT2	VP37D_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog D (S. cerevisiae) (VPS37D), mRNA.	150	VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCCTGCCTGCCTTCCAGCGTG	0.706000														28			13		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42711363	42711363	+	Missense_Mutation	SNP	G	A	A	rs45590635		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:42711363G>A	uc021xxv.1	+	6	831	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	GHR_uc003jmt.3_Missense_Mutation_p.E225K|GHR_uc003jmu.3_Missense_Mutation_p.E225K|GHR_uc003jmv.2_Missense_Mutation_p.E225K|GHR_uc021xxw.1_Missense_Mutation_p.E225K|GHR_uc021xxx.1_Missense_Mutation_p.E225K|GHR_uc021xxy.1_Missense_Mutation_p.E225K|GHR_uc021xxz.1_Missense_Mutation_p.E225K|GHR_uc021xya.1_Missense_Mutation_p.E225K|GHR_uc021xyb.1_Missense_Mutation_p.E225K|GHR_uc021xyc.1_Missense_Mutation_p.E225K|GHR_uc011cpq.2_Missense_Mutation_p.E38K|GHR_uc021xyd.1_Missense_Mutation_p.E203K	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	225	Fibronectin type-III.				2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGTGGATAAGGAATATGAAGT	0.398000														171			26		0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157804377	157804377	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157804377C>T	uc001frk.4	-	3	681	c.538G>A	c.(538-540)Gga>Aga	p.G180R		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	180	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTCCCACATCCCAGCTGCCGG	0.587000														86			24		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10204902	10204902	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10204902C>T	uc002gmk.1	-	39	5876	c.5786G>A	c.(5785-5787)cGa>cAa	p.R1929Q		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1929					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCCACGTCTCGGCTCTTGGC	0.582000														140			17		0	0	1	0	0
GALNTL2	117248	broad.mit.edu	37	3	16217068	16217068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:16217068C>T	uc003car.4	+	0	885	c.410C>T	c.(409-411)gCt>gTt	p.A137V	GALNTL2_uc003caq.4_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	137						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A137fs*2(1)		NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						GACTGGGGGGCTGATGAGGAC	0.637000														22			16		0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71114247	71114247	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:71114247G>A	uc004agr.3	+	9	1813	c.1584G>A	c.(1582-1584)agG>agA	p.R528R		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	528					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GCTACGAGAGGGATCCCAGCG	0.577000														69			27		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53610870	53610870	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:53610870G>A	uc004dsp.3	-	41	5570	c.5168C>T	c.(5167-5169)cCt>cTt	p.P1723L	HUWE1_uc004dsn.3_Missense_Mutation_p.P548L	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1723					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TAGGGCCAAAGGGGTATCTAT	0.438000														33			53		0	0	1	0	0
SFXN2	118980	broad.mit.edu	37	10	104488271	104488271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104488271C>T	uc001kwb.2	+	3	582	c.416C>T	c.(415-417)tCc>tTc	p.S139F	SFXN2_uc001kwc.2_Non-coding_Transcript	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	Homo sapiens sideroflexin 2 (SFXN2), mRNA.	139					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AATGCGGCTTCCCCCACATCA	0.567000														72			37		0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34096010	34096010	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34096010C>T	uc021wco.1	+	31	7544	c.6897C>T	c.(6895-6897)acC>acT	p.T2299T	CEP250_uc010zve.2_Silent_p.T1667T	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	2299					G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	p.T2299T(2)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TGCGGAGTACCTTGGAGCAGG	0.567000														100			49		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61843365	61843366	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61843365_61843366CC>TT	uc001jky.3	-	32	4422_4423	c.4084_4085GG>AA	c.(4084-4086)gga>AAa	p.G1362K	ANK3_uc001jkw.3_Missense_Mutation_p.G496K|ANK3_uc009xpa.3_Missense_Mutation_p.G496K|ANK3_uc001jkx.3_Missense_Mutation_p.G540K|ANK3_uc010qih.2_Missense_Mutation_p.G1363K|ANK3_uc001jkz.4_Missense_Mutation_p.G1356K|ANK3_uc001jla.1_Missense_Mutation_p.G428K|ANK3_uc001jkv.3_5'Flank|ANK3_uc009xpb.1_5'Flank|ANK3_uc009xpc.1_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1362					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.G1362E(4)|p.G496E(2)		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						AATAGGTTTTCCTTCCAGAACC	0.297000														65			23		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286797	152286797	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152286797C>T	uc001ezu.1	-	2	601	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	189					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGTATTTTCAGTCTTGTTT	0.308000									Ichthyosis					80			9		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417464	150417464	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150417464C>T	uc003whq.3	+	2	512	c.372C>T	c.(370-372)ttC>ttT	p.F124F	GIMAP1-GIMAP5_uc022apw.1_Silent_p.F124F	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		TGGGTCGGTTCACCGCCCAGG	0.627000														39			16		0	0	1	0	0
CD81	975	broad.mit.edu	37	11	2416230	2416230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:2416230C>T	uc001lwf.1	+	3	541	c.308C>T	c.(307-309)gCc>gTc	p.A103V		NM_004356	NP_004347	P60033	CD81_HUMAN	Homo sapiens CD81 molecule (CD81), mRNA.	103					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATCCTGTTTGCCTGTGAGGTG	0.662000														60			33		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6062186	6062186	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:6062186C>T	uc010idb.1	-	10	2095	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	JAKMIP1_uc010idc.1_Missense_Mutation_p.E352K|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Missense_Mutation_p.E537K|JAKMIP1_uc011bwc.2_Missense_Mutation_p.E372K|JAKMIP1_uc003giv.4_Missense_Mutation_p.E537K|JAKMIP1_uc010ide.3_Missense_Mutation_p.E537K	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	537	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCAAATCTTCGATTTTGGCC	0.532000														118			62		0	0	1	0	0
ESRRA	2101	broad.mit.edu	37	11	64074765	64074765	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64074765C>T	uc001nzq.1	+	1	291	c.114C>T	c.(112-114)gcC>gcT	p.A38A	ESRRA_uc001nzr.1_Silent_p.A38A|ESRRA_uc001nzs.1_Silent_p.A38A	NM_004451	NP_004442	P11474	ERR1_HUMAN	Homo sapiens estrogen-related receptor alpha (ESRRA), mRNA.	38	Repressor domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TGGCCCTGGCCCCTGGTCCAG	0.667000														30			14		0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49391246	49391246	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49391246G>A	uc002pkz.2	-	7	1060	c.909C>T	c.(907-909)ccC>ccT	p.P303P		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	303					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GGTAGTAGAGGGGGAACAAGC	0.612000														61			18		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974808	20974808	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20974808G>A	uc010vbe.2	-	52	10398	c.10398C>T	c.(10396-10398)ttC>ttT	p.F3466F	DNAH3_uc010vbd.2_Silent_p.F901F	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3466					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCCTTGAGAGAACTTCCAAG	0.522000														55			5		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46308052	46308052	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46308052C>T	uc002pdm.3	-	2	1282	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	RSPH6A_uc002pdl.3_Missense_Mutation_p.E107K	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	371	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						acctcctcctcctctgcctcc	0.652000														22			7		0	0	1	0	0
BC039000	0	broad.mit.edu	37	10	42928724	42928724	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:42928724G>A	uc001izx.3	-	3		c.777C>T								Homo sapiens cyclin Y-like 2, mRNA (cDNA clone IMAGE:4704933), with apparent retained intron.																		ATTGTAAGATGAGGCTGGCTG	0.393000														58			29		0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2880270	2880270	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2880270G>A	uc002cru.3	+	0	98	c.22G>A	c.(22-24)Gag>Aag	p.E8K		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.	8						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						GGGGGCCCAGGAGAGTATAAA	0.677000														14			8		0	0	1	0	0
OR56B4	196335	broad.mit.edu	37	11	6129180	6129180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6129180G>A	uc010qzx.2	+	0	172	c.172G>A	c.(172-174)Gag>Aag	p.E58K		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTCAACATGAGACCGTGCT	0.522000														44			23		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341592	121341592	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121341592C>T	uc003eeg.2	+	2	1526	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	439					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAACAGTTTTCCTCTGGGACA	0.522000														97			29		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23865591	23865591	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23865591C>T	uc001wjv.3	-	19	2402	c.2331G>A	c.(2329-2331)gaG>gaA	p.E777E		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	777	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			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)		CATCCCGCATCTCCTCCAGCA	0.607000														55			5		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123039618	123039618	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:123039618C>T	uc003egh.2	-	9	2089	c.2089_splice	c.e9-1	p.G697_splice	ADCY5_uc021xdd.1_Splice_Site_p.G347_splice|ADCY5_uc003egg.2_Splice_Site_p.G330_splice|ADCY5_uc003egi.1_Splice_Site_p.G256_splice	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	697					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCTTCAAAGCCCTagaagaga	0.473000														27			8		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14857684	14857684	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14857684C>T	uc003zlm.3	-	5	1511	c.695G>A	c.(694-696)aGc>aAc	p.S232N	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	232					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.S232T(2)|p.G231E(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CACTTTGAGGCTTCCTATTTT	0.463000														48			8		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898953	36898953	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36898953G>A	uc003cgj.3	-	11	2376	c.2128C>T	c.(2128-2130)Ctt>Ttt	p.L710F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	710					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GAGCTCTGAAGACAGTCCTCT	0.557000														50			18		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128642808	128642808	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:128642808G>A	uc010sbu.2	+	3	860	c.517G>A	c.(517-519)Gag>Aag	p.E173K	FLI1_uc010sbt.2_Intron|FLI1_uc010sbv.2_Missense_Mutation_p.E140K|FLI1_uc009zci.3_Missense_Mutation_p.E107K	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	173	PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AATGAACAAGGAGGACTTCCT	0.522000			T	EWSR1	Ewing sarcoma									141			47		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107734	55107734	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55107734C>T	uc002qgh.1	+	6	1221	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*	LILRA1_uc010yfg.1_Nonsense_Mutation_p.Q345*|LILRA1_uc010yfh.2_Nonsense_Mutation_p.Q347*	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	347	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTGCTGTGTCAGTCATGGGG	0.592000														86			27		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87082389	87082389	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87082389G>A	uc003uiv.1	-	5	483	c.407C>T	c.(406-408)tCa>tTa	p.S136L	ABCB4_uc003uiw.1_Missense_Mutation_p.S136L|ABCB4_uc003uix.1_Missense_Mutation_p.S136L|ABCB4_uc003uiy.3_Missense_Mutation_p.S136L	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	136	ABC transmembrane type-1 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AGTCCAAAATGAAACTTGTAT	0.388000														90			35		0	0	1	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107019950	107019951	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:107019950_107019951GG>AA	uc003prj.3	-	8	1588_1589	c.1111_1112CC>TT	c.(1111-1113)cct>TTt	p.P371F	RTN4IP1_uc010kdd.3_3'UTR|RTN4IP1_uc003prk.3_Missense_Mutation_p.P271F	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	Homo sapiens reticulon 4 interacting protein 1 (RTN4IP1), nuclear gene encoding mitochondrial protein, mRNA.	371						mitochondrion	oxidoreductase activity|zinc ion binding	p.F370F(1)		breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TTTAGAAAAAGGAAAGGTTTGT	0.381000														46			24		0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070233	141070233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:141070233G>A	uc010ncq.3	+	3	1313	c.473G>A	c.(472-474)aGg>aAg	p.R158K						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																		AACGCTCCAAGGTCATCCTGT	0.607000														18			5		0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50293694	50293694	+	Missense_Mutation	SNP	C	T	T	rs137853226		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:50293694C>T	uc003cyq.1	+	4	656	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	GNAI2_uc003cyo.1_Missense_Mutation_p.R163C|GNAI2_uc003cyp.1_Missense_Mutation_p.R163C|GNAI2_uc010hlg.1_Missense_Mutation_p.R98C|GNAI2_uc011bdn.2_Missense_Mutation_p.R142C|GNAI2_uc003cyr.1_Missense_Mutation_p.R98C	NM_002070	NP_002061	P04899	GNAI2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA.	179					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.R179H(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GCTACGGACCCGCGTAAAGAC	0.592000														41			17		0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894012	78894012	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:78894012G>A	uc002bec.3	-	4	1473	c.972C>T	c.(970-972)ttC>ttT	p.F324F	CHRNA3_uc002beb.3_Silent_p.F324F|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	324					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTTGAGCACGAAGACGGTGA	0.522000														114			79		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192711531	192711531	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:192711531C>T	uc002utb.3	-	0	476	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	41						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TCTGTGTTCCCTAGGTTCAGG	0.612000														76			19		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81702170	81702170	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81702170C>T	uc001kbh.3	-	3	450	c.407G>A	c.(406-408)gGc>gAc	p.G136D		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	136	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding	p.P135S(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TCCTTTTGGGCCTGGCTTGCC	0.597000														39			19		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69416504	69416504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69416504C>T	uc021xov.1	-	4	1247	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	402					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GCAATGTTATCATGTTGATCC	0.448000														143			53		0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611578	42611578	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:42611578G>A	uc003xpj.3	-	4	1120	c.764C>T	c.(763-765)tCa>tTa	p.S255L	CHRNA6_uc011lcw.2_Missense_Mutation_p.S240L	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA.	255						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGTTAGAAATGAAATAAAGAG	0.378000														63			7		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43412005	43412005	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43412005C>T	uc002ovj.1	-	4	806	c.707_splice	c.e4-1	p.P236_splice	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Splice_Site_p.P76_splice|PSG4_uc002ovg.1_Splice_Site_p.P236_splice	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	237					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGGGCAGCTTCGCTGTGTGGA	0.493000														182			77		0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5204841	5204841	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:5204841C>T	uc009xhz.2	-	1		c.319G>A								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TATTTCCTCTCTCTTGACGGT	0.423000														175			50		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98808818	98808818	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98808818G>A	uc001kmw.2	-	13	1611	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	SLIT1_uc009xvh.1_Silent_p.F463F	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	453	LRRCT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGGTGCGCAGGAAGTCTGCCA	0.587000														77			26		0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003147	50003147	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:50003147C>T	uc010ria.2	-	0	925	c.891G>A	c.(889-891)agG>agA	p.R297R		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCCAAAGCTTCCTTATTGCAC	0.353000														33			10		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146997584	146997584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:146997584C>T	uc010jgo.1	-	17	2384	c.2236G>A	c.(2236-2238)Gag>Aag	p.E746K	JAKMIP2_uc003loq.1_Missense_Mutation_p.E746K|JAKMIP2_uc011dbx.1_Missense_Mutation_p.E704K|JAKMIP2_uc003lor.1_Missense_Mutation_p.E725K|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	746						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTCAGCTCCTCTTGCTGT	0.433000														83			24		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088210	17088210	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17088210G>A	uc002nfb.3	-	14	1899	c.1867C>T	c.(1867-1869)Cag>Tag	p.Q623*		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	576						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACTGCAAACTGAAGGCTGTCG	0.602000														72			28		0	0	1	0	0
REM1	28954	broad.mit.edu	37	20	30072045	30072045	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30072045G>A	uc002wwa.3	+	4	993	c.709G>A	c.(709-711)Gag>Aag	p.E237K	LINC00028_uc010ztn.1_5'Flank	NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	237					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity|calmodulin binding			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CGAGCTCTTCGAGGGCGTGGT	0.701000														13			6		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716834	13716834	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:13716834G>A	uc001rbt.2	-	12	3517	c.3338C>T	c.(3337-3339)cCg>cTg	p.P1113L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1113					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGAGCGGGGCGGTCGGCGACG	0.607000														46			21		0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532323	40532323	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:40532323C>T	uc003xnr.3	-	4	623	c.477G>A	c.(475-477)atG>atA	p.M159I	ZMAT4_uc003xns.3_Intron	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	159						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			GTTGCTGGGCCATCAGAGGGT	0.493000														204			46		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113950885	113950885	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113950885G>A	uc002tjc.3	+	7	2153	c.1970G>A	c.(1969-1971)cGa>cAa	p.R657Q	PSD4_uc002tjd.3_Missense_Mutation_p.R278Q|PSD4_uc002tje.3_Missense_Mutation_p.R628Q|PSD4_uc002tjf.3_Missense_Mutation_p.R278Q	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	657	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAACGGGAGCGAATCCTCTAC	0.607000														68			27		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888235	38888235	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38888235C>T	uc021wvy.1	-	25	5525	c.5326G>A	c.(5326-5328)Gga>Aga	p.G1776R		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1776					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GACAAGTCTCCATTGCAAAGA	0.532000														77			34		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20024478	20024478	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:20024478C>T	uc001umd.3	-	12	1020	c.809G>A	c.(808-810)aGa>aAa	p.R270K	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R159K|TPTE2_uc001ume.3_Missense_Mutation_p.R193K|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	270	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATCATAAGCTCTTTCACCTAA	0.294000														87			33		0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178846735	178846735	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:178846735G>A	uc001glz.3	+	8	1048	c.710G>A	c.(709-711)cGa>cAa	p.R237Q	RALGPS2_uc001gly.1_Missense_Mutation_p.R237Q|RALGPS2_uc010pnb.2_Missense_Mutation_p.R237Q	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	237	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AATATCCTTCGAATAATTTCT	0.333000														46			13		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9391729	9391729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9391729C>T	uc021wam.1	+	20	2024	c.2009C>T	c.(2008-2010)tCg>tTg	p.S670L	PLCB4_uc010gbw.1_Missense_Mutation_p.S670L|PLCB4_uc010gbx.3_Missense_Mutation_p.S682L|PLCB4_uc021wal.1_Missense_Mutation_p.S670L|PLCB4_uc002wnh.3_Missense_Mutation_p.S517L	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	670	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.S670L(2)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TATAATGGATCGTGCGGGTGA	0.363000														58			33		0	0	1	0	0
CXorf27	25763	broad.mit.edu	37	X	37850185	37850185	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:37850185C>T	uc004ddt.4	+	0	116	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_012274	NP_036406	O75409	HYPM_HUMAN	Homo sapiens chromosome X open reading frame 27 (CXorf27), mRNA.	31							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						CTAGGAGCTTCGTGGACCGCG	0.458000														28			5		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169826714	169826714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169826714G>A	uc002ueo.1	-	14	1776	c.1650C>T	c.(1648-1650)acC>acT	p.T550T	ABCB11_uc010zda.1_5'UTR|ABCB11_uc010zdb.1_Silent_p.T26T	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	550	ABC transporter 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTCCAACAAGGGTGTCAAATT	0.463000														24			6		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220167069	220167069	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220167069C>T	uc002vkz.3	-	5	1025	c.784G>A	c.(784-786)Ggg>Agg	p.G262R	PTPRN_uc010zlc.2_Missense_Mutation_p.G172R|PTPRN_uc002vla.3_Missense_Mutation_p.G262R	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	262					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.G262E(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGAAGGTCCCCGTAGGAGTGG	0.632000														18			9		0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226564933	226564933	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:226564933G>A	uc001hqd.4	-	12	1988	c.1817C>T	c.(1816-1818)tCc>tTc	p.S606F		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	606					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		ATCCTCCTTGGACGGCATCTG	0.473000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						313			112		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371795	240371795	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240371795C>T	uc010pye.2	+	5	3920	c.3695C>T	c.(3694-3696)cCt>cTt	p.P1232L	FMN2_uc010pyd.2_Missense_Mutation_p.P1228L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1228	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCCTCCACCTGGGACAGGA	0.622000														28			15		0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16306646	16306646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:16306646C>T	uc003nbt.3	-	8	3333	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	ATXN1_uc010jpi.3_Missense_Mutation_p.E788K|ATXN1_uc010jpj.1_Non-coding_Transcript	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	788	Interaction with USP7.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AAAGGTGGTTCGTCTTCTGAC	0.547000														79			35		0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050127	84050127	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84050127G>A	uc002fhg.1	-	7	1159	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	387					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCCTCACCTGGGAAGATGAAG	0.567000														41			15		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56220307	56220307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56220307C>T	uc002qly.3	-	8	2975	c.2947G>A	c.(2947-2949)Gaa>Aaa	p.E983K		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	983						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ATCTTGTATTCCTCGTCAATC	0.488000														83			26		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94156635	94156635	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94156635C>T	uc001ybv.1	+	43	6993	c.6910C>T	c.(6910-6912)Cca>Tca	p.P2304S	UNC79_uc001ybs.1_Missense_Mutation_p.P2282S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2459						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						GATTGGATTTCCAGAGCAATC	0.453000														101			20		0	0	1	0	0
FAM116A	201627	broad.mit.edu	37	3	57620487	57620487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:57620487G>A	uc003dja.3	-	12	1213	c.1142C>T	c.(1141-1143)cCt>cTt	p.P381L		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	381										breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		AACCTGCTTAGGAATTTCACC	0.254000														21			7		0	0	1	0	0
SERPINA13	388007	broad.mit.edu	37	14	95111341	95111341	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:95111341G>A	uc001ydt.3	+	3	1161	c.1073G>A	c.(1072-1074)aGa>aAa	p.R358K						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						AGAACCTGCAGACTGGAGATG	0.502000														54			15		0	0	1	0	0
C3orf32	51066	broad.mit.edu	37	3	8673774	8673774	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:8673774C>T	uc011atg.2	-	4	401	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	C3orf32_uc003bqz.3_Missense_Mutation_p.E99K|C3orf32_uc003bqt.3_Missense_Mutation_p.E48K|C3orf32_uc003bqu.3_Missense_Mutation_p.E99K|C3orf32_uc003bqv.3_Missense_Mutation_p.E48K|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Missense_Mutation_p.E99K	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.	99								p.R120I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						ATCCTGGATTCACTAAAGGTC	0.413000														74			27		0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104902005	104902005	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:104902005G>A	uc001pim.4	-	3	340	c.340C>T	c.(340-342)Cct>Tct	p.P114S	CASP1_uc001pig.3_Missense_Mutation_p.P21S|CASP1_uc021qpq.1_Missense_Mutation_p.P93S|CASP1_uc021qpr.1_Missense_Mutation_p.P21S|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Missense_Mutation_p.P114S|CASP1_uc021qpt.1_Missense_Mutation_p.P21S|CASP1_uc010rve.2_Missense_Mutation_p.P114S|CASP1_uc010rvf.2_Missense_Mutation_p.P21S|CASP1_uc010rvg.2_Missense_Mutation_p.P93S|CASP1_uc010rvh.2_Missense_Mutation_p.P21S|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Missense_Mutation_p.P93S|CASP1_uc021qpu.1_Missense_Mutation_p.P21S|CASP1_uc021qpv.1_Missense_Mutation_p.P93S|CASP1_uc021qpw.1_Missense_Mutation_p.P21S|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Missense_Mutation_p.P114S|CASP1_uc009yxj.3_Intron|CASP1_uc010rvk.2_Missense_Mutation_p.P75S|CASP1_uc010rvl.2_Missense_Mutation_p.P114S	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	114					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	ACTGCCTGAGGAGCTGCAAGA	0.483000														33			11		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18039118	18039118	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:18039118G>A	uc021trm.1	+	11	4795	c.4576G>A	c.(4576-4578)Gcc>Acc	p.A1526T	MYO15A_uc021trl.1_Missense_Mutation_p.A1524T	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1526	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTGCAGAAGGCCATCACCTT	0.592000														22			4		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160109743	160109744	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160109743_160109744CC>TT	uc001fvc.3	+	21	3135_3136	c.3003_3004CC>TT	c.(3001-3006)gtccga>gtTTga	p.R1002*	ATP1A2_uc001fvd.3_Nonsense_Mutation_p.R721*	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	1002					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R1002R(3)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ATGATGAGGTCCGAAAGCTCAT	0.579000														124			29		0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153430423	153430423	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153430423G>A	uc001fbv.1	-	2	236	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_002963	NP_002954	P31151	S10A7_HUMAN	Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.	55	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGACATCGGCGAGGTAATTTG	0.418000														100			26		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1086331	1086331	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1086331G>A	uc001lsx.1	+	22	3067	c.3040G>A	c.(3040-3042)Gag>Aag	p.E1014K		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1014	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGTGAGCAGCGAGCTGGACTT	0.647000														15			11		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213507	21213507	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21213507G>T	uc010bwn.1	-	10	1404	c.1322C>A	c.(1321-1323)tCc>tAc	p.S441Y	ZP2_uc002dii.2_Missense_Mutation_p.S402Y	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	402	ZP.				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)		AGGCTGGCAGGATGAGTTTCC	0.542000														39			12		7.03913e-09	7.06126e-09	1	1	0
OR51B4	79339	broad.mit.edu	37	11	5323135	5323135	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5323135G>A	uc010qza.2	-	0	42	c.42C>T	c.(40-42)ggC>ggT	p.G14G	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCCAAGAAGCCAGTCAGCA	0.463000											OREG0003718	type=REGULATORY REGION|Gene=OR51B4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		77			23		0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155649647	155649647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:155649647C>T	uc003faq.3	+	12	1989	c.1654C>T	c.(1654-1656)Cgc>Tgc	p.R552C	GMPS_uc011bom.2_Missense_Mutation_p.R453C	NM_003875	NP_003866	P49915	GUAA_HUMAN	Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.	552					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCTTATACCTCGCATGTGTCA	0.438000			T	MLL	AML									171			56		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48866231	48866231	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:48866231G>A	uc003xqi.3	-	6	727	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L	PRKDC_uc003xqj.3_Silent_p.L224L	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	224					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AACCCCTTCAGACATCCTGCC	0.388000								Non-homologous end-joining						20			6		0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67219760	67219760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67219760G>A	uc001olm.3	-	0	441	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	146						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGGGGCAGGCGGACTGGGCGG	0.701000														32			14		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068524	103068524	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103068524G>A	uc002tbx.3	+	11	2167	c.1683G>A	c.(1681-1683)gtG>gtA	p.V561V	IL18RAP_uc010fiz.3_Silent_p.V419V	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	561	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ACATGCCTGTGAAAAACTCTC	0.473000														144			71		0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919074	12919074	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12919074G>A	uc001aum.1	+	1	297	c.210G>A	c.(208-210)atG>atA	p.M70I		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	70										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TATCGCTGATGAAGACGCTTC	0.567000														295			87		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73128174	73128174	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:73128174G>A	uc010izf.3	+	9	1212	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	RGNEF_uc011csq.2_Missense_Mutation_p.D346N|RGNEF_uc003kcy.1_Missense_Mutation_p.D346N|RGNEF_uc021yam.1_Missense_Mutation_p.D346N|RGNEF_uc011csr.2_Missense_Mutation_p.D33N	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	346					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TCGCTCCTTCGATATCCTAAA	0.423000														24			5		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38876376	38876376	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38876376C>T	uc003jln.2	+	2	549	c.147C>T	c.(145-147)caC>caT	p.H49H	OSMR_uc003jlm.2_Silent_p.H49H	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	49					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AGAGTTTGCACTTACAATGGA	0.393000														83			18		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60814171	60814171	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:60814171G>A	uc010dds.3	-	6	1457	c.1172C>T	c.(1171-1173)tCa>tTa	p.S391L	MARCH10_uc010ddr.3_Missense_Mutation_p.S353L|MARCH10_uc002jag.4_Missense_Mutation_p.S353L|MARCH10_uc002jah.2_Missense_Mutation_p.S352L|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	353							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TATTCTCAATGAGCCATGACT	0.493000														108			50		0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62178550	62178550	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62178550G>A	uc002yfi.1	-	0	308	c.267C>T	c.(265-267)ttC>ttT	p.F89F		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	89	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCCTGCGTGCGAAGATGTAGC	0.672000														41			14		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983855	97983855	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:97983855G>A	uc003dsi.1	+	0	727	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TACAATCTTAGAAAAGAAGTC	0.343000														41			20		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114304291	114304291	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:114304291G>A	uc004bff.2	+	5	1300	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	359					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GAAAAGTCACGGAAATCTAAT	0.438000														66			40		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152520314	152520314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152520314C>T	uc021vrb.1	-	42	5540	c.5511G>A	c.(5509-5511)ctG>ctA	p.L1837L	NEB_uc002txu.3_Silent_p.L1837L|NEB_uc021vrc.1_Silent_p.L1837L|NEB_uc010fnx.3_Silent_p.L1837L|NEB_uc021vrd.1_Silent_p.L1837L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1837					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGTCATCTTCCAGGCTCCGGA	0.453000														70			22		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19236122	19236122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19236122C>T	uc002dfw.3	+	6	1521	c.1190C>T	c.(1189-1191)cCc>cTc	p.P397L	SYT17_uc002dfx.3_Missense_Mutation_p.P336L|SYT17_uc002dfy.3_Missense_Mutation_p.P393L	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	397	C2 2.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TTCAAAGTTCCCCAAGAAGAA	0.453000														75			24		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43596087	43596087	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:43596087G>A	uc001jal.3	+	1	444	c.254G>A	c.(253-255)tGg>tAg	p.W85*	RET_uc001jak.1_Nonsense_Mutation_p.W85*	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	85					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GAGAACAACTGGATCTGCATC	0.637000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					29			6		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94173221	94173221	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94173221G>A	uc001ybv.1	+	47	7497	c.7414G>A	c.(7414-7416)Gaa>Aaa	p.E2472K	UNC79_uc001ybs.1_Missense_Mutation_p.E2450K	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2627						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						CCAGTCCTCGGAAGCAGCCTC	0.527000														66			20		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53165751	53165751	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53165751C>T	uc001sax.3	-	5	1221	c.1167G>A	c.(1165-1167)agG>agA	p.R389R		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	389	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATCCCCATGCCTGCCAGCTG	0.507000														73			39		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849677	54849677	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54849677C>T	uc002qfj.3	-	2	402	c.345G>A	c.(343-345)ctG>ctA	p.L115L	LILRA4_uc002qfi.3_Silent_p.L49L	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	115	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTGTCACCACCAGCTCCAGGG	0.622000														67			16		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22294096	22294096	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22294096C>T	uc001wbw.2	+	1	209	c.200C>T	c.(199-201)tCc>tTc	p.S67F	TRA_uc021rpa.1_Intron|TCRA_uc010ais.1_Non-coding_Transcript					SubName: Full=Alpha-chain C region; Flags: Fragment;																		GGTCCTGTTTCCCTGACAATC	0.458000														100			54		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117235007	117235007	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:117235007G>A	uc003vjd.3	+	14	2646	c.2514G>A	c.(2512-2514)gaG>gaA	p.E838E	CFTR_uc011knq.2_Silent_p.E244E	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	838					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ATGATATGGAGAGCATACCAG	0.333000									Cystic Fibrosis					46			9		0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49055564	49055564	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49055564G>A	uc002pjl.3	+	0	136	c.55G>A	c.(55-57)Gac>Aac	p.D19N		NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	19					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		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;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CTATGAAGATGACATCTCGGA	0.672000														25			8		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41559882	41559882	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41559882G>A	uc002yyq.1	-	12	3038	c.2586C>T	c.(2584-2586)ttC>ttT	p.F862F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	862	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGCAGGAAAAGAAACCAGAAT	0.403000														55			20		0	0	1	0	0
YEATS4	8089	broad.mit.edu	37	12	69756579	69756579	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:69756579C>T	uc001sux.3	+	1	284	c.63C>T	c.(61-63)atC>atT	p.I21I		NM_006530	NP_006521	O95619	YETS4_HUMAN	Homo sapiens YEATS domain containing 4 (YEATS4), mRNA.	21					histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			GTGTTACTATCGTTAAACCAA	0.308000														60			21		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140730425	140730425	+	Missense_Mutation	SNP	G	A	A	rs36001111		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140730425G>A	uc003ljo.2	+	0	598	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.E200K	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	203	Cadherin 2.				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)			TCTAGACAGGGAACATCAGAG	0.493000														115			18		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88376921	88376921	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:88376921G>A	uc001tam.1	-	11	1346	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L		NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	393								p.P393S(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TTTTGAAAAAGGAATTCGTTT	0.259000														119			23		0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688082	55688082	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55688082C>T	uc010sph.2	-	0	935	c.935G>A	c.(934-936)aGa>aAa	p.R312K		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTAAAATGGTCTTTTAGAAAA	0.388000														24			15		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109686778	109686778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:109686778C>T	uc004bcz.3	+	2	874	c.585C>T	c.(583-585)ccC>ccT	p.P195P	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.P43P|ZNF462_uc004bda.3_Silent_p.P43P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	195					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCACTGCTCCCCCACCTGCTC	0.512000														36			21		0	0	1	0	0
IKZF5	64376	broad.mit.edu	37	10	124755623	124755623	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124755623C>T	uc001lha.2	-	3	502	c.203G>A	c.(202-204)gGa>gAa	p.G68E		NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	Homo sapiens IKAROS family zinc finger 5 (Pegasus) (IKZF5), mRNA.	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TACTAACATTCCTGAGTTTTC	0.423000														76			31		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468689	56468689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:56468689G>A	uc021wzo.1	-	0	487	c.347C>T	c.(346-348)tCa>tTa	p.S116L	ERC2_uc003dhr.1_Missense_Mutation_p.S116L	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	116						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ATCTGTGTATGAAAGGACATC	0.512000														136			53		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79240035	79240035	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:79240035G>A	uc003hlb.2	+	17	2472	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	FRAS1_uc003hkw.3_Missense_Mutation_p.E678K|FRAS1_uc003hky.1_Missense_Mutation_p.E382K|FRAS1_uc003hkz.3_Missense_Mutation_p.E382K|FRAS1_uc003hla.1_Missense_Mutation_p.E189K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	678					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAAGCCAGAGGAAGGACTGCA	0.527000														70			37		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400029	47400029	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47400029C>T	uc001cqp.4	-	7	958	c.907G>A	c.(907-909)Ggg>Agg	p.G303R	CYP4A11_uc001cqq.2_Missense_Mutation_p.G303R|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	303					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AAGATGCTCCCATTCTCCATC	0.532000														24			19		0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150869196	150869196	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:150869196C>T	uc022cgt.1	+	3	436	c.387C>T	c.(385-387)ctC>ctT	p.L129L	PRRG3_uc004few.2_Silent_p.L129L	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	129						extracellular region|integral to membrane	calcium ion binding	p.T128S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGCACACCCTCCCCCGGGTCA	0.652000														25			43		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3658723	3658723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:3658723C>T	uc003smx.3	+	1	449	c.310C>T	c.(310-312)Cca>Tca	p.P104S		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	104	Ig-like C2-type 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGATGTTGCTCCATATTTTAA	0.398000														18			6		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060399	111060399	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111060399C>T	uc001dzt.1	-	0	1399	c.1011G>A	c.(1009-1011)ctG>ctA	p.L337L		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	337						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TCAGGATGGCCAGGGACATGT	0.547000														142			43		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169539831	169539831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:169539831C>T	uc003fgb.3	+	0	122	c.122C>T	c.(121-123)cCt>cTt	p.P41L		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	41										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACTGCCATTCCTTTGGAGATC	0.383000														84			35		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18462396	18462396	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:18462396C>T	uc003cbh.3	-	1	1799	c.64G>A	c.(64-66)Gat>Aat	p.D22N	SATB1_uc003cbi.3_Missense_Mutation_p.D22N|SATB1_uc003cbj.3_Missense_Mutation_p.D22N	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	22					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						CCCTTCGGATCACTCACATTG	0.498000														122			64		0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140442	178140442	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178140442G>A	uc003mjj.3	-	4	635	c.437C>T	c.(436-438)tCa>tTa	p.S146L		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	146					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		GTGGGTGGCTGAAACTATCTG	0.363000														126			69		0	0	1	0	0
EFCAB1	79645	broad.mit.edu	37	8	49643999	49643999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:49643999C>T	uc003xqo.2	-	1	282	c.122G>A	c.(121-123)aGg>aAg	p.R41K	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Intron|EFCAB1_uc010lxx.2_Intron|EFCAB1_uc011ldk.1_Intron	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	Homo sapiens EF-hand calcium binding domain 1 (EFCAB1), transcript variant 1, mRNA.	41							calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CAGACCTTGCCTCTCTACTCC	0.358000														48			13		0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101776545	101776545	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:101776545C>T	uc001pgl.3	-	3	871	c.275G>A	c.(274-276)aGa>aAa	p.R92K		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	92					signal transduction	extracellular space	receptor binding	p.R92I(2)		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)		TTTGGTACTTCTTGTGTAGGA	0.274000														46			13		0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74692164	74692164	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:74692164C>T	uc001jte.1	+	8	1738	c.1520C>T	c.(1519-1521)tCc>tTc	p.S507F	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	507	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GACGAGCGTTCCCGCTGTGCC	0.582000														157			56		0	0	1	0	0
WT1-AS	51352	broad.mit.edu	37	11	32460452	32460452	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:32460452G>A	uc021qfr.1	+	0		c.978G>A			WT1-AS_uc010rec.2_Non-coding_Transcript|WT1-AS_uc010red.2_Non-coding_Transcript					Homo sapiens Wilms tumor upstream neighbor 1, mRNA (cDNA clone IMAGE:3633024).											endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						ACAGCCCCTGGAAAACCATGT	0.537000														23			11		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107041010	107041010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:107041010G>A	uc010ywi.1	-	19	3470	c.3413C>T	c.(3412-3414)tCt>tTt	p.S1138F		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1138	RanBD1 1.				intracellular transport		binding	p.S1138Y(3)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ATCACCATCAGAGAAATCACT	0.448000														127			84		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2855543	2855544	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2855543_2855544GG>AA	uc022aqr.1	-	53	8756_8757	c.8366_8367CC>TT	c.(8365-8367)ccc>cTT	p.P2789L	CSMD1_uc011kwj.2_Missense_Mutation_p.P2119L|CSMD1_uc010lrg.3_Missense_Mutation_p.P800L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2790	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCGACACGTGGGCAGAGGGCT	0.550000														29			9		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35084740	35084740	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35084740C>T	uc003jjm.3	-	5	763	c.204_splice	c.e5-1	p.G68_splice	PRLR_uc003jjk.1_Splice_Site|PRLR_uc003jjg.2_Splice_Site_p.G68_splice|PRLR_uc003jjh.2_Splice_Site_p.G68_splice|PRLR_uc003jji.2_Splice_Site|PRLR_uc003jjj.2_Splice_Site_p.G68_splice|PRLR_uc003jjl.4_Intron|PRLR_uc021xxl.1_Splice_Site_p.G68_splice|PRLR_uc010iuw.1_Splice_Site	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	68	Fibronectin type-III 1.				T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATGAGTGTCTCTCTGCAATAA	0.408000														59			22		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999549	46999549	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:46999549C>T	uc001jec.3	+	2	804	c.669C>T	c.(667-669)acC>acT	p.T223T	GPRIN2_uc021ppt.1_Silent_p.T223T	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	223										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGCTGGCTACCACCACCTGCC	0.637000														39			13		0	0	1	0	0
PSMD4	5710	broad.mit.edu	37	1	151238796	151238796	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151238796C>T	uc001exl.3	+	7	838	c.776C>T	c.(775-777)gCc>gTc	p.A259V		NM_002810	NP_002801	P55036	PSMD4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4), mRNA.	259					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCAGACGATGCCCTGCTGAAG	0.547000														133			54		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48370644	48370644	+	Missense_Mutation	SNP	G	A	A	rs138519620	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48370644G>A	uc001jex.3	+	1	274	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	ZNF488_uc021ppx.1_Missense_Mutation_p.E38K	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S37R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GCGACTTAGCGAACCTGAGCT	0.667000														92			38		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141520	63141520	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63141520C>T	uc001nww.3	+	3	1084	c.816C>T	c.(814-816)atC>atT	p.I272I	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.	272					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ACTTTGTGATCTTTCTGACCT	0.428000														30			9		0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925637	27925637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:27925637C>T	uc011dkx.2	+	0	619	c.619C>T	c.(619-621)Cat>Tat	p.H207Y		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAGCTCTTCCATCTAATACC	0.428000														228			42		0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6733289	6733289	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6733289G>A	uc002mfp.3	-	8	793	c.747C>T	c.(745-747)ccC>ccT	p.P249P	GPR108_uc010duv.3_5'Flank	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	249						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GGAAGCCATCGGGGTTCTTCT	0.657000														38			19		0	0	1	0	0
TBCCD1	55171	broad.mit.edu	37	3	186272334	186272334	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:186272334G>A	uc003fqg.3	-	5	1382	c.1253C>T	c.(1252-1254)cCt>cTt	p.P418L	TBCCD1_uc011bry.2_Missense_Mutation_p.P418L|TBCCD1_uc003fqh.3_Missense_Mutation_p.P322L	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.	418	C-CAP/cofactor C-like.				cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TGTATGAAAAGGGGCAAAAGT	0.468000														41			13		0	0	1	0	0
CDKL1	8814	broad.mit.edu	37	14	50844978	50844978	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:50844978C>T	uc010anu.2	-	8	1271	c.1271G>A	c.(1270-1272)gGa>gAa	p.G424E	CDKL1_uc001wxz.3_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.	0						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					taccccacctccttctagggc	0.498000														21			21		0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51464813	51464813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:51464813C>T	uc001wyx.4	-	6	2323	c.1558G>A	c.(1558-1560)Gga>Aga	p.G520R	TRIM9_uc001wyy.2_Missense_Mutation_p.G516R|TRIM9_uc001wyz.4_Missense_Mutation_p.G520R	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	520	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GGGCTGACTCCTGTTTTGTTG	0.537000														50			10		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152786560	152786560	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:152786560C>T	uc021zhb.1	-	15	1988	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	SYNE1_uc003qot.4_Missense_Mutation_p.E596K|SYNE1_uc003qou.4_Missense_Mutation_p.E589K|SYNE1_uc010kjb.1_Missense_Mutation_p.E572K|SYNE1_uc003qpa.1_Missense_Mutation_p.E589K|SYNE1_uc003qow.3_5'Flank|SYNE1_uc003qox.1_Missense_Mutation_p.E105K|SYNE1_uc003qoz.2_Missense_Mutation_p.E21K|SYNE1_uc003qoy.2_Missense_Mutation_p.E156K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	589					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCGGTGGTTTCATTCATGAAT	0.398000										HNSCC(10;0.0054)				19			19		0	0	1	0	0
SPRYD7	57213	broad.mit.edu	37	13	50505152	50505152	+	Splice_Site	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:50505152A>G	uc001vdl.2	-	2	477	c.223_splice	c.e2+1	p.G75_splice	SPRYD7_uc001vdm.2_Intron|SPRYD7_uc010tgm.1_Intron|SPRYD7_uc010adj.3_Splice_Site_p.G75_splice	NM_020456	NP_065189	Q5W111	SPRY7_HUMAN	Homo sapiens SPRY domain containing 7 (SPRYD7), transcript variant 1, mRNA.	75	B30.2/SPRY.									haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						CATTATACCAACCTGTGGACT	0.313000														49			15		0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877742	2877742	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:2877742G>A	uc002lwp.1	+	3	873	c.786G>A	c.(784-786)aaG>aaA	p.K262K	ZNF556_uc002lwq.3_Silent_p.K261K	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		ATGAGTGCAAGCACTGTGGGA	0.537000														42			17		0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20181561	20181561	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:20181561C>T	uc021qez.1	-	0	310	c.307G>A	c.(307-309)Gag>Aag	p.E103K	DBX1_uc021qey.1_Missense_Mutation_p.E104K	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	Homo sapiens developing brain homeobox 1 (DBX1), mRNA.	104					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						AACGTCGTCTCGCTGGCAGGG	0.677000														12			5		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958354	121958354	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:121958354G>A	uc003idq.1	-	3	1299	c.772C>T	c.(772-774)Cct>Tct	p.P258S		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	258										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTATCAGAAGGAAATCCAAAG	0.468000														44			23		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2408075	2408075	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:2408075G>A	uc001aji.1	+	0	322	c.48G>A	c.(46-48)gtG>gtA	p.V16V		NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	16	Necessary for plasma membrane localization (By similarity).				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			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)		AGGGAACGGTGGCCTGGCTGG	0.687000														10			7		0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446015	10446015	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:10446015G>A	uc003gmn.3	-	2	2425	c.1938C>T	c.(1936-1938)gtC>gtT	p.V646V	ZNF518B_uc021xme.1_Silent_p.V646V	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGCCCTCGGGGACATTTTCAG	0.408000														147			50		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151945426	151945426	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:151945426G>A	uc003wla.3	-	13	2312	c.2093C>T	c.(2092-2094)aCc>aTc	p.T698I		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	698					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGACACTAAGGTTTCTAGTGG	0.403000			N		medulloblastoma									75			27		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6125817	6125817	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6125817G>A	uc001qnn.1	-	29	5426	c.5176C>T	c.(5176-5178)Cgt>Tgt	p.R1726C	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1726	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	p.R1726S(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGAGTGAGACGAGGCCCTAAA	0.527000														68			22		0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28136759	28136760	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:28136759_28136760GG>AA	uc001url.4	-	4	1323_1324	c.1014_1015CC>TT	c.(1012-1017)ttccaa>ttTTaa	p.Q339*	LNX2_uc001urm.1_Nonsense_Mutation_p.Q339*	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	339	PDZ 2.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AGAGCCACTTGGAAAATCTCTT	0.485000														92			31		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533860	92533860	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92533860G>A	uc001pdj.4	+	8	7698	c.7681G>A	c.(7681-7683)Gaa>Aaa	p.E2561K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2561	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTAGACCGGGAAAACCCTCT	0.468000										TCGA Ovarian(4;0.039)				26			11		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179562606	179562606	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179562606G>A	uc010pnp.2	+	2	762	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	TDRD5_uc021pfm.1_Missense_Mutation_p.E82K|TDRD5_uc001gnf.2_Missense_Mutation_p.E82K|TDRD5_uc021pfn.1_Missense_Mutation_p.E82K	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	82	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CATTCCAGATGAATCTACCAA	0.373000														33			8		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61802491	61802491	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61802491C>T	uc001jky.3	-	42	13430	c.13092G>A	c.(13090-13092)acG>acA	p.T4364T	ANK3_uc001jkw.3_Silent_p.T988T|ANK3_uc009xpa.3_Silent_p.T987T|ANK3_uc001jkx.3_Silent_p.T1031T|ANK3_uc010qih.2_Silent_p.T1855T|ANK3_uc001jkz.4_Silent_p.T1848T|ANK3_uc001jkv.3_Silent_p.T387T	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4364					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						TTTCTTTCTTCGTTTTCACCT	0.398000														145			49		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047037	42047038	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:42047037_42047038GG>AA	uc001cgz.4	-	3	4644_4645	c.3431_3432CC>TT	c.(3430-3432)tcc>tTT	p.S1144F	HIVEP3_uc001cha.4_Missense_Mutation_p.S1144F|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1144					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGAGAAAAGGGAGACTGGTGG	0.584000														111			51		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262636	140262636	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140262636G>A	uc003lif.2	+	0	783	c.783G>A	c.(781-783)gtG>gtA	p.V261V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.V261V|PCDHAC2_uc003lid.3_Silent_p.V261V	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	276	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACATTAGTGATCAAGCTAA	0.423000														114			36		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26294333	26294333	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26294333G>A	uc003abz.1	+	28	4978	c.4728G>A	c.(4726-4728)agG>agA	p.R1576R	MYO18B_uc003aca.1_Silent_p.R1457R|MYO18B_uc010guy.1_Silent_p.R1458R|MYO18B_uc010guz.1_Silent_p.R1456R|MYO18B_uc011aka.1_Silent_p.R730R|MYO18B_uc011akb.1_Silent_p.R1089R	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1576	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						AACTGAAGAGGAAGTGCCACC	0.493000														72			28		0	0	1	0	0
LMO2	4005	broad.mit.edu	37	11	33880946	33880946	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:33880946C>T	uc001mve.3	-	2	872	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	LMO2_uc001mvc.3_Missense_Mutation_p.E138K|LMO2_uc001mvd.3_Missense_Mutation_p.E138K|LMO2_uc010rel.2_Missense_Mutation_p.E145K|LMO2_uc010rem.2_Missense_Mutation_p.E214K	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	Homo sapiens LIM domain only 2 (rhombotin-like 1) (LMO2), transcript variant 3, mRNA.	145	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding	p.E145K(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						ATGTCCTGTTCGCACACTATG	0.502000			T	TRD@	T-ALL									37			12		0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574492	22574492	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22574492C>T	uc002nqt.2	-	3	1667	c.1545G>A	c.(1543-1545)gaG>gaA	p.E515E		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TGTAGGGTTTCTCTCCAGTAT	0.393000														77			23		0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49067928	49067928	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:49067928C>T	uc004dnb.3	-	35	4209	c.4147G>A	c.(4147-4149)Gag>Aag	p.E1383K	CACNA1F_uc010nip.3_Missense_Mutation_p.E1372K	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1383		Calcium ion selectivity and permeability (By similarity).			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)	TGCCATGCCTCACCAGTGGCA	0.547000														17			16		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7678627	7678627	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7678627C>T	uc002giu.1	+	28	4802	c.4788C>T	c.(4786-4788)ttC>ttT	p.F1596F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1596	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACATTGACTTCCTCCACTCAG	0.547000														14			11		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52645297	52645297	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:52645297C>T	uc002xws.2	-	3	695	c.357G>A	c.(355-357)gtG>gtA	p.V119V	BCAS1_uc010zzb.1_Silent_p.V22V|BCAS1_uc010gim.2_Silent_p.V22V|BCAS1_uc002xwt.2_Silent_p.V119V|BCAS1_uc010gil.1_Silent_p.V119V|BCAS1_uc010zzc.2_Silent_p.V22V	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	119						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CATCAAGCTTCACTGATCCAA	0.537000														64			21		0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23428365	23428365	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:23428365G>A	uc002dlo.3	-	8	1412	c.1215C>T	c.(1213-1215)gcC>gcT	p.A405A		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	405					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		ATCTGTCAACGGCTGCAGACG	0.562000														50			13		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9374249	9374249	+	Silent	SNP	G	A	A	rs1129249		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9374249G>A	uc021wam.1	+	14	1353	c.1338G>A	c.(1336-1338)agG>agA	p.R446R	PLCB4_uc010gbw.1_Silent_p.R446R|PLCB4_uc010gbx.3_Silent_p.R446R|PLCB4_uc021wal.1_Silent_p.R446R|PLCB4_uc002wnh.3_Silent_p.R293R	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	446	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AACCAGGCAGGGCTTTGCCAT	0.453000											OREG0025771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			27		0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6333529	6333529	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6333529C>T	uc002mel.2	-	0	112	c.34G>A	c.(34-36)Gtg>Atg	p.V12M		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	12						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CACCAGTCCACCTCGGAGCTC	0.617000														12			6		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145567885	145567885	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:145567885G>A	uc003ijs.2	+	0	738	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	LOC646576_uc003ijq.2_5'Flank|HHIP_uc003ijr.2_Missense_Mutation_p.E20K	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	20						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGGCTTCTTTGAAGGAGATGC	0.597000														84			21		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45798932	45798932	+	Missense_Mutation	SNP	C	T	T	rs138507862		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45798932C>T	uc010gpt.1	+	7	1167	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	TRPM2_uc002zet.1_Missense_Mutation_p.S356L|TRPM2_uc002zeu.1_Missense_Mutation_p.S356L|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.S356L|TRPM2_uc002zex.1_Missense_Mutation_p.S142L	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	356						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GTGGAGGGCTCGGGCCGCGTG	0.642000														77			40		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94056942	94056942	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94056942C>T	uc003ung.1	+	48	3742	c.3271C>T	c.(3271-3273)Ccc>Tcc	p.P1091S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1091					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)	TTTGCAGGGCCCCCCTGGTCC	0.532000										HNSCC(75;0.22)				109			42		0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356289	37356289	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:37356289C>T	uc002xjc.3	+	1	848	c.585C>T	c.(583-585)gcC>gcT	p.A195A		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	195					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCTGCTGCGCCCCGCGCTTCC	0.637000														36			15		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54797988	54797988	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54797988G>A	uc001sga.3	-	14	1574	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	502					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						ACATGGCGGGGAAGATGGTGA	0.597000											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			18		0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128615974	128615975	+	Nonsense_Mutation	DNP	GG	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128615974_128615975GG>AT	uc010lly.2	-	16	2581_2582	c.2178_2179CC>AT	c.(2176-2181)taccac>taATac	p.726_727YH>*Y	TNPO3_uc010llx.2_Nonsense_Mutation_p.103_104YH>*Y|TNPO3_uc003vol.2_Nonsense_Mutation_p.692_693YH>*Y|TNPO3_uc010llz.2_Nonsense_Mutation_p.628_629YH>*Y|TNPO3_uc003vom.2_Nonsense_Mutation_p.626_627YH>*Y	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	692					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TGATGTACGTGGTACACATTCA	0.455000														49			19		0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887889	30887889	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:30887889C>T	uc003aid.2	-	9	943	c.843G>A	c.(841-843)acG>acA	p.T281T	SEC14L4_uc011akz.1_Silent_p.T281T|SEC14L4_uc003aie.2_Silent_p.T266T|SEC14L4_uc003aif.2_Silent_p.T227T	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	281	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CCACGGACCTCGTGTGCTCAT	0.622000														36			17		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43420354	43420354	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43420354C>T	uc002ovj.1	-	1	449	c.350G>A	c.(349-351)gGa>gAa	p.G117E	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.G117E	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	118	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGTGTAGGATCCTGCATCCTC	0.468000														310			156		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23219402	23219402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:23219402C>T	uc009vqj.1	+	6	1599	c.1454C>T	c.(1453-1455)gCc>gTc	p.A485V	EPHB2_uc001bge.3_Missense_Mutation_p.A485V|EPHB2_uc001bgf.3_Missense_Mutation_p.A485V|EPHB2_uc010odu.2_Missense_Mutation_p.A485V	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	485	Fibronectin type-III 2.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AACGCCACAGCCATAAAAAGC	0.602000														53			26		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9364963	9364963	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9364963C>T	uc021wam.1	+	10	984	c.969C>T	c.(967-969)ttC>ttT	p.F323F	PLCB4_uc010gbw.1_Silent_p.F323F|PLCB4_uc010gbx.3_Silent_p.F323F|PLCB4_uc021wal.1_Silent_p.F323F|PLCB4_uc002wnh.3_Silent_p.F170F	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	323	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CTCACTACTTCATCAGTTCTT	0.468000														94			36		0	0	1	0	0
SMOX	54498	broad.mit.edu	37	20	4162831	4162831	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:4162831C>T	uc002wkp.2	+	4	906	c.705C>T	c.(703-705)atC>atT	p.I235I	SMOX_uc010zqo.1_Silent_p.I212I|SMOX_uc002wkk.1_Silent_p.I235I|SMOX_uc002wkl.1_Silent_p.I235I|SMOX_uc002wkm.1_Silent_p.I235I|SMOX_uc002wkn.1_Intron|SMOX_uc002wko.1_Silent_p.I235I	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA.	235					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	ACCACATCATCCCCTCGGGCT	0.647000														42			28		0	0	1	0	0
CREB3L1	90993	broad.mit.edu	37	11	46334007	46334007	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:46334007G>A	uc021qil.1	+	5	1320	c.885G>A	c.(883-885)cgG>cgA	p.R295R	CREB3L1_uc021qik.1_Silent_p.R295R	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	295					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		AGAGAGTCCGGAGGAAAATCA	0.587000			T	FUS	myxofibrosarcoma									16			14		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148037913	148037913	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:148037913C>T	uc004fcp.3	+	10	2817	c.2338C>T	c.(2338-2340)Cct>Tct	p.P780S	AFF2_uc004fcq.3_Missense_Mutation_p.P770S|AFF2_uc004fcr.3_Missense_Mutation_p.P741S|AFF2_uc011mxb.2_Missense_Mutation_p.P745S|AFF2_uc004fcs.3_Missense_Mutation_p.P747S|AFF2_uc011mxc.2_Missense_Mutation_p.P421S	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	780					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACATTTTCACCTATTCCTGT	0.458000														40			26		0	0	1	0	0
TNFSF15	9966	broad.mit.edu	37	9	117552767	117552767	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117552767C>T	uc004bjh.3	-	3	837	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	TNFSF15_uc004bjg.3_Missense_Mutation_p.E182K	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	241					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GTTTTATCTTCTTTTGTGTAA	0.428000														121			33		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24576801	24576801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:24576801C>T	uc011djo.2	-	9	2029	c.1529G>A	c.(1528-1530)gGa>gAa	p.G510E	KIAA0319_uc011djp.2_Missense_Mutation_p.G465E|KIAA0319_uc003neh.1_Missense_Mutation_p.G510E|KIAA0319_uc011djq.1_Missense_Mutation_p.G501E|KIAA0319_uc011djr.1_Missense_Mutation_p.G510E|KIAA0319_uc010jpt.1_5'UTR	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	510	PKD 2.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTTAGTGGCTCCGTCCGAGTC	0.488000														314			32		0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3392325	3392325	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:3392325C>G	uc002qxm.1	+	1	1137	c.931C>G	c.(931-933)Ctt>Gtt	p.L311V	TRAPPC12_uc002qxn.1_Missense_Mutation_p.L311V|TRAPPC12_uc010ewm.1_Missense_Mutation_p.L311V	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.	311							binding										CGACGCCTGGCTTCCCGGCGA	0.672000														32			10		0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648700	62648700	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:62648700G>A	uc001jli.3	-	6	1164	c.726C>T	c.(724-726)gtC>gtT	p.V242V	RHOBTB1_uc009xpe.2_Silent_p.V180V|RHOBTB1_uc001jlh.3_Silent_p.V242V|RHOBTB1_uc001jlj.3_Silent_p.V242V|RHOBTB1_uc001jlk.3_Silent_p.V242V	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	242					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.P241L(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GAATTTTGATGACCGGTGGAG	0.498000														169			19		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192327	132192327	+	Missense_Mutation	SNP	G	A	A	rs151233036		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:132192327G>A	uc003vra.4	-	1	1355	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	PLXNA4_uc003vrc.2_Missense_Mutation_p.R376W|PLXNA4_uc003vrb.3_Missense_Mutation_p.R376W	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	376	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCCTCGCCCCGGTAACAAGAC	0.587000														87			7		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72349019	72349019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72349019G>A	uc002jkm.4	+	14	2178	c.2040G>A	c.(2038-2040)ctG>ctA	p.L680L		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	680					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ATTCTGACCTGGAGAGTGTGA	0.597000														82			32		0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40768415	40768415	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:40768415G>A	uc001cfh.1	-	29	1782	c.1670C>T	c.(1669-1671)cCt>cTt	p.P557L	COL9A2_uc001cfi.1_Missense_Mutation_p.P376L	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	557	Triple-helical region 2 (COL2).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			AGGTCCTGGAGGACCCATCAT	0.701000														9			4		0	0	1	0	0
CXCR5	643	broad.mit.edu	37	11	118764606	118764606	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118764606G>A	uc001pue.4	+	1	529	c.353G>A	c.(352-354)gGg>gAg	p.G118E	CXCR5_uc001puf.3_Missense_Mutation_p.G73E	NM_001716	NP_116743	P32302	CXCR5_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 5 (CXCR5), transcript variant 1, mRNA.	118					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TGGGTCCTGGGGACCTTCCTC	0.617000														57			26		0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105190518	105190518	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:105190518C>T	uc003vda.1	+	7	1244	c.1013C>T	c.(1012-1014)gCt>gTt	p.A338V	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	338	RINT1/TIP20.				G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGTACTTGGCTCAAGTACTT	0.348000														63			24		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834025	61834025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61834025G>A	uc001jky.3	-	36	6952	c.6614C>T	c.(6613-6615)cCa>cTa	p.P2205L	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.	2205					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						GGTGGGCTTTGGTTCCAATTC	0.448000														94			33		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234581070	234581070	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234581070C>T	uc002vus.3	+	0	527	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.P164S	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	167					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTTCTCCCTCCCCTCCGTGGT	0.433000														195			69		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482830	76482830	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:76482830C>T	uc002fex.1	+	4	1057	c.918C>T	c.(916-918)ctC>ctT	p.L306L	CNTNAP4_uc002feu.1_Silent_p.L302L|CNTNAP4_uc002fev.1_Silent_p.L215L|CNTNAP4_uc010chb.1_Silent_p.L278L|CNTNAP4_uc002few.2_Silent_p.L278L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	303	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AATTCAATCTCATGAATCTTG	0.388000														12			9		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87241866	87241867	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:87241866_87241867CC>TT	uc003ydq.1	-	0	738_739	c.640_641GG>AA	c.(640-642)gga>AAa	p.G214K	SLC7A13_uc003ydr.1_Missense_Mutation_p.G214K	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	214						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TGCAAAATATCCTTGGAAGATG	0.366000														109			33		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55107474	55107474	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:55107474C>T	uc003dhf.3	+	35	3038	c.2990C>T	c.(2989-2991)tCc>tTc	p.S997F	CACNA2D3_uc003dhg.1_Missense_Mutation_p.S903F|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	997						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TCCAACAGGTCCTTTGTCATC	0.507000														47			18		0	0	1	0	0
TTC24	164118	broad.mit.edu	37	1	156555535	156555535	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156555535C>T	uc021pbf.1	+	8	1523	c.1487C>T	c.(1486-1488)tCg>tTg	p.S496L		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	Homo sapiens tetratricopeptide repeat domain 24 (TTC24), mRNA.	496							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGAATCATTCGCACCATCTA	0.512000														84			35		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81647354	81647354	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81647354C>T	uc001szl.1	+	14	1991	c.1900C>T	c.(1900-1902)Cga>Tga	p.R634*	ACSS3_uc001szm.1_Nonsense_Mutation_p.R633*|ACSS3_uc001szn.1_Nonsense_Mutation_p.R316*	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	634						mitochondrion	ATP binding|acetate-CoA ligase activity	p.R634*(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGCTGCTTTTCGAAATGCAGT	0.428000														93			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179638652	179638652	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179638652C>T	uc021vsy.1	-	30	7468	c.7243G>A	c.(7243-7245)Gaa>Aaa	p.E2415K	TTN_uc021vsz.1_Missense_Mutation_p.E2369K|TTN_uc021vta.1_Missense_Mutation_p.E2369K|TTN_uc021vtb.1_Missense_Mutation_p.E2369K|TTN_uc002unb.2_Missense_Mutation_p.E2415K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2415	Ig-like 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E2415Q(3)|p.E2369Q(3)		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)			GTCATGTCTTCAATGAGCAGC	0.478000														109			34		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115375563	115375563	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115375563C>T	uc001lal.3	-	26	3150	c.2986G>A	c.(2986-2988)Gaa>Aaa	p.E996K	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Missense_Mutation_p.E996K|NRAP_uc001lak.3_Missense_Mutation_p.E961K	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	996						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCTCCTTGTTCCCTGTATAAT	0.493000														18			8		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32813968	32813968	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:32813968C>T	uc001utx.3	+	45	7133	c.6637C>T	c.(6637-6639)Cat>Tat	p.H2213Y	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCGATACCTTCATGAAGCATA	0.428000														68			15		0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6587206	6587206	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:6587206G>A	uc003zkc.3	-	14	1978	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	595					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAAGCTCTCGGAAAAGCTGCT	0.413000														62			35		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169539941	169539941	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:169539941C>T	uc003fgb.3	+	0	232	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	78										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GGTCCTCTACCTGGATAAGAA	0.512000														93			43		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744734	70744734	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:70744734G>A	uc003xyl.3	-	1	882	c.175C>T	c.(175-177)Ccg>Tcg	p.P59S	SLCO5A1_uc010lzb.3_Missense_Mutation_p.P59S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.P59S|SLCO5A1_uc010lzc.2_Missense_Mutation_p.P59S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	59						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCAAAGGCCGGGTTGGCGTCT	0.652000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			8		0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73679447	73679447	+	Missense_Mutation	SNP	C	T	T	rs146910386	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:73679447C>T	uc001ouo.3	+	5	1415	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	222					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					GCTACACCCTCGCTTCCGCAG	0.562000														43			27		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215833488	215833488	+	Missense_Mutation	SNP	G	A	A	rs144770649	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:215833488G>A	uc002vew.3	-	37	5954	c.5734C>T	c.(5734-5736)Cgt>Tgt	p.R1912C	ABCA12_uc002vev.3_Missense_Mutation_p.R1594C|ABCA12_uc010zjn.2_Missense_Mutation_p.R839C	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1912					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATATCAAAACGAAGGTCTTTT	0.338000														152			41		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102714185	102714185	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102714185C>T	uc001phj.1	-	0	158	c.93G>A	c.(91-93)atG>atA	p.M31I		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	31					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GAACAAGGTTCATGCTGGTGT	0.488000														27			11		0	0	1	0	0
C4BPB	725	broad.mit.edu	37	1	207262917	207262917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207262917G>A	uc009xcd.3	+	0	334	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	C4BPB_uc001hfi.3_Missense_Mutation_p.R14Q|C4BPB_uc001hfj.3_Missense_Mutation_p.R14Q|C4BPB_uc001hfl.3_Missense_Mutation_p.R14Q|C4BPB_uc001hfk.3_Missense_Mutation_p.R14Q|C4BPB_uc001hfm.3_Missense_Mutation_p.R14Q|C4BPB_uc010pse.1_Missense_Mutation_p.R5Q	NM_001017366	NP_001017366	P20851	C4BPB_HUMAN	Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA.	14					blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						GTTGCGTGGCGAGTTTCTGCT	0.478000														43			17		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23775187	23775187	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:23775187G>A	uc003sws.4	+	6	581	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	STK31_uc003swt.4_Missense_Mutation_p.E149K|STK31_uc011jze.2_Missense_Mutation_p.E172K|STK31_uc010kuq.3_Missense_Mutation_p.E149K	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	172							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTGATTTTTGAAAAGGAAAT	0.388000														102			40		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240976925	240976925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240976925C>T	uc001hyt.2	-	5	499	c.445G>A	c.(445-447)Gag>Aag	p.E149K	RGS7_uc010pyh.2_Missense_Mutation_p.E291K|RGS7_uc010pyj.1_Missense_Mutation_p.E233K|RGS7_uc001hyu.2_Missense_Mutation_p.E317K|RGS7_uc009xgn.1_Missense_Mutation_p.E264K|RGS7_uc001hyv.2_Missense_Mutation_p.E317K|RGS7_uc001hyw.2_Missense_Mutation_p.E317K	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	317					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TACCTTGCCTCAAGTTCCCAG	0.433000														35			15		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101818647	101818648	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:101818647_101818648CC>TT	uc004azb.1	+	34	3504_3505	c.3298_3299CC>TT	c.(3298-3300)ccc>TTc	p.P1100F		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	1100	Triple-helical region 8 (COL8).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G1099W(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GCCACCGGGGCCCCCGGGGCCA	0.624000														64			13		0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683114	50683114	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:50683114G>A	uc003paf.3	+	1	837	c.325G>A	c.(325-327)Gag>Aag	p.E109K	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	109							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCACCACGGGGAGCCCACCGA	0.627000														111			17		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040194	31040194	+	Missense_Mutation	SNP	C	T	T	rs142812385		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:31040194C>T	uc002nsu.1	+	3	3806	c.3668C>T	c.(3667-3669)tCa>tTa	p.S1223L	ZNF536_uc010edd.1_Missense_Mutation_p.S1223L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGACTGGTCTCACCTTTATCC	0.662000														42			26		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7042193	7042193	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:7042193G>A	uc002knm.3	-	8	1306	c.1212C>T	c.(1210-1212)tcC>tcT	p.S404S	LAMA1_uc010wzj.2_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	404	Laminin EGF-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGAACTGAGGGACCCCACAG	0.448000														30			10		0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7329881	7329881	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7329881C>T	uc002ggw.3	+	2	644	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	191						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GGAGGACAACCTGCCCTTCCC	0.602000														59			53		0	0	1	0	0
SYS1	90196	broad.mit.edu	37	20	43995655	43995655	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43995655C>T	uc021weh.1	+	4	614	c.371C>T	c.(370-372)gCc>gTc	p.A124V	SYS1_uc002xnv.3_Missense_Mutation_p.A124V|SYS1_uc002xnw.2_Intron|SYS1_uc010gha.3_Non-coding_Transcript|DBNDD2_uc002xnx.3_Intron	NM_001197129	NP_001184058	Q8N2H4	SYS1_HUMAN	Homo sapiens SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) (SYS1), transcript variant 3, mRNA.	124					protein transport	Golgi membrane|integral to membrane				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CTGGTCCAAGCCGTGTGCATT	0.562000														103			20		0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200813990	200813990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:200813990C>T	uc001gvl.3	+	8	1405	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	CAMSAP2_uc001gvk.3_Missense_Mutation_p.P368S|CAMSAP2_uc001gvm.3_Missense_Mutation_p.P368S	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	379						cytoplasm|microtubule	protein binding										TTCTGACTTCCCTTCAAGGTA	0.279000														68			11		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	629674	629674	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:629674C>T	uc003gap.3	+	2	680	c.627C>T	c.(625-627)ttC>ttT	p.F209F	PDE6B_uc003gao.4_Silent_p.F209F	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	209	GAF 1.				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						TTCAGGTGTTCTTGAAGTACC	0.507000														48			17		0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61459284	61459284	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61459284G>A	uc002ydm.3	+	16	859	c.856G>A	c.(856-858)Ggt>Agt	p.G286S		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	286	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGGCAGACCTGGTCCCAAGGG	0.642000														49			33		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34100769	34100769	+	Missense_Mutation	SNP	G	A	A	rs452752		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:34100769G>A	uc003oir.4	-	0	868	c.505C>T	c.(505-507)Ctt>Ttt	p.L169F	GRM4_uc011dsn.2_Missense_Mutation_p.L169F|GRM4_uc010jvh.3_Missense_Mutation_p.L169F|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_Missense_Mutation_p.L88F	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	169			L -> F (in dbSNP:rs452752).		activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AAGAGGCGAAGGATGTTGGCC	0.632000														29			17		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228473972	228473972	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228473972G>A	uc009xez.1	+	33	9242	c.9198G>A	c.(9196-9198)cgG>cgA	p.R3066R	OBSCN_uc001hsn.3_Silent_p.R3066R|OBSCN_uc001hsq.1_Silent_p.R322R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3066	Ig-like 30.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGACCCTGCGGCAGCTGGCGC	0.657000														8			3		0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83218214	83218215	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83218214_83218215GG>AA	uc002bit.3	-	8	1726_1727	c.1589_1590CC>TT	c.(1588-1590)ccc>cTT	p.P530L	CPEB1_uc002bir.3_Missense_Mutation_p.P395L|CPEB1_uc002bis.3_Missense_Mutation_p.P390L|CPEB1_uc010uod.2_Missense_Mutation_p.P239L|CPEB1_uc002biq.3_Missense_Mutation_p.P390L|CPEB1_uc010uoe.2_Missense_Mutation_p.P468L|CPEB1_uc002biu.3_Missense_Mutation_p.P492L|CPEB1_uc010uof.2_Missense_Mutation_p.P390L|CPEB1_uc002biv.3_Missense_Mutation_p.P465L|CPEB1_uc002bip.3_Missense_Mutation_p.P239L	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	470	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACTTACCAATGGGATACTTGTG	0.520000														55			17		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159654376	159654376	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:159654376C>T	uc010kjv.3	+	10	3032	c.2832C>T	c.(2830-2832)tcC>tcT	p.S944S	FNDC1_uc010kjw.1_Silent_p.S829S	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	944						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGTACTCCTCCCTGGCCTCCA	0.617000														14			9		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62045598	62045598	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62045598C>T	uc002jds.1	-	5	898	c.821G>A	c.(820-822)gGa>gAa	p.G274E		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	274					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCTCAGGTTTCCCATGAAGAG	0.562000														84			31		0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25620922	25620922	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25620922C>T	uc003abp.1	+	2	140	c.92C>T	c.(91-93)tCg>tTg	p.S31L		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	31	Beta/gamma crystallin 'Greek key' 1.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CAAGGCCACTCGCATGAGCTC	0.547000														43			24		0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21329770	21329770	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21329770C>T	uc001req.4	+	4	524	c.420C>T	c.(418-420)tcC>tcT	p.S140S		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	140					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.S140F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CGACCTTATCCACTTGTTTAA	0.289000														94			23		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50405101	50405101	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:50405101C>T	uc003daq.3	-	26	2328	c.2290G>A	c.(2290-2292)Ggt>Agt	p.G764S	CACNA2D2_uc003dap.3_Missense_Mutation_p.G757S	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	764					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GTGATGCCACCGTCTGTGGCA	0.642000														36			19		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48704860	48704860	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:48704860G>A	uc001zwx.2	-	64	8527	c.8132C>T	c.(8131-8133)tCc>tTc	p.S2711F	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2711					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.S2711S(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCCTCTGGGGAGAGTGAATT	0.532000														144			59		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101510519	101510519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:101510519G>A	uc010svm.1	+	24	3085	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	ANO4_uc001thw.2_Missense_Mutation_p.R803Q|ANO4_uc001thx.2_Missense_Mutation_p.R838Q|ANO4_uc001thy.2_Missense_Mutation_p.R358Q	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	838						chloride channel complex	chloride channel activity	p.Y838N(1)|p.R803Q(1)		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						TTTGAGAACCGATCTGAGCCT	0.507000										HNSCC(74;0.22)				139			62		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49823408	49823408	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:49823408C>T	uc002efs.3	-	2	364	c.66G>A	c.(64-66)gtG>gtA	p.V22V		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	22					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.S21S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTGCTGCTGTCACGGAGGAAT	0.572000														54			5		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32705812	32705812	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:32705812C>T	uc001utx.3	+	7	1216	c.720C>T	c.(718-720)ttC>ttT	p.F240F	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTCTTAGATTCCCTGCTGTAA	0.418000														47			10		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17468993	17468993	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17468993G>A	uc002zlw.3	-	2	651	c.543C>T	c.(541-543)tgC>tgT	p.C181C	GAB4_uc010gqs.1_Silent_p.C164C	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	181										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCTGATGGGAGCAGCTGGGCT	0.607000														21			13		0	0	1	0	0
IGH	0	broad.mit.edu	37	16	32070619	32070619	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:32070619C>T	uc002ecv.1	+	0		c.72C>T								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233.																		TGCAAGGCTTCTGGATACACC	0.537000														74			11		0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588686	72588686	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72588686G>A	uc002jla.1	+	2	863	c.501G>A	c.(499-501)ggG>ggA	p.G167G	CD300LD_uc002jkz.2_5'Flank|C17orf77_uc021ucq.1_Silent_p.G167G	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA.	167						extracellular region		p.G167G(2)		breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						GGAGCTGCGGGATCTACTGCC	0.597000														35			18		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180043925	180043925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:180043925C>T	uc003mlz.4	-	21	3150	c.3071G>A	c.(3070-3072)gGg>gAg	p.G1024E	FLT4_uc003mma.4_Missense_Mutation_p.G1024E	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1024	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GAACTCCATCCCTCTGGCCAC	0.602000														70			26		0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38520723	38520723	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38520723C>T	uc003cif.3	+	5	795	c.771C>T	c.(769-771)ctC>ctT	p.L257L	ACVR2B_uc003cig.3_Silent_p.L48L	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	Homo sapiens activin A receptor, type IIB (ACVR2B), mRNA.	257	Protein kinase.				BMP signaling pathway|activin receptor signaling pathway|anterior/posterior pattern formation|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	ATP binding|activin receptor activity|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GCTCCAACCTCGAAGTAGAGC	0.557000														144			62		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8449744	8449744	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:8449744G>A	uc003zkk.3	-	33	4712	c.3969C>T	c.(3967-3969)cgC>cgT	p.R1323R	PTPRD_uc003zkp.3_Silent_p.R917R|PTPRD_uc003zkq.3_Silent_p.R916R|PTPRD_uc003zkr.3_Silent_p.R907R|PTPRD_uc003zks.3_Silent_p.R902R|PTPRD_uc022bdj.1_Silent_p.R913R	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1323					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1323C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAAAGTTAAGGCGCCTCAGTT	0.453000										TSP Lung(15;0.13)				126			16		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102709877	102709877	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102709877C>T	uc001phj.1	-	6	1098	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	DD413629_uc021qpi.1_5'Flank	NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	345	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CTAGTAACTTCATATGCGGCA	0.388000														103			36		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56663166	56663166	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56663166G>A	uc010dcz.2	-	17	3202	c.3084C>T	c.(3082-3084)ttC>ttT	p.F1028F	TEX14_uc002iwr.2_Silent_p.F1022F|TEX14_uc002iws.2_Silent_p.F1022F|TEX14_uc010dda.2_Silent_p.F802F	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	1028						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTTACTGGTGAAGCTTCCAA	0.517000														66			36		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49701640	49701640	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:49701640C>T	uc003jom.3	-	4	768	c.519G>A	c.(517-519)ggG>ggA	p.G173G	EMB_uc010ivq.3_5'Flank|EMB_uc003jol.3_Silent_p.G104G|EMB_uc011cpy.2_Silent_p.G123G	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	173	Ig-like V-type 2.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CAGTAGAATCCCCTACGTAAG	0.348000														53			32		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96021270	96021270	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:96021270C>T	uc004ati.1	+	10	2440	c.2440C>T	c.(2440-2442)Cct>Tct	p.P814S	WNK2_uc011lud.1_Missense_Mutation_p.P814S|WNK2_uc004atj.3_Missense_Mutation_p.P814S|WNK2_uc004atk.3_Missense_Mutation_p.P451S|WNK2_uc010mrc.1_Missense_Mutation_p.P762S	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	814					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CGACGGCCTCCCTCCGGCCCT	0.657000														60			21		0	0	1	0	0
AP1S2	8905	broad.mit.edu	37	17	58179669	58179669	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:58179669C>T	uc010wot.1	-	0	612	c.496G>A	c.(496-498)Gga>Aga	p.G166R		NM_003916	NP_003907	P56377	AP1S2_HUMAN	Homo sapiens adaptor-related protein complex 1, sigma 2 subunit (AP1S2), mRNA.	119					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|Golgi membrane|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane	protein transporter activity			large_intestine(1)	1	Hepatocellular(33;0.183)					ACTTCCCCTCCCAAAAGAAAC	0.378000														140			54		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37271804	37271804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:37271804C>T	uc001caz.2	-	13	2350	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	GRIK3_uc001cba.1_Missense_Mutation_p.E739K	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	739					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTGGTGGACTCCATGAGCAGC	0.622000														88			23		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100190594	100190594	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100190594C>T	uc011kjz.1	+	4	929	c.861C>T	c.(859-861)atC>atT	p.I287I	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Silent_p.I235I|FBXO24_uc003uvm.1_Silent_p.I249I|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Silent_p.I237I|LOC100129845_uc022air.1_Non-coding_Transcript	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	249						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCAAGCAGATCGTGCTGGTTG	0.552000														50			7		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106967409	106967409	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106967409C>T	uc021ser.1	-	263		c.10091G>A								Parts of antibodies, mostly variable regions.																		AAAATCCCTTCCTCAGCCCTG	0.557000														69			23		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71163629	71163629	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71163629G>A	uc002ezr.3	-	8	1292	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	HYDIN_uc010cfz.2_Silent_p.L126L|HYDIN_uc021tkq.1_Silent_p.L381L|HYDIN_uc010vmc.2_Silent_p.L398L|HYDIN_uc010vmd.2_Silent_p.L408L|HYDIN_uc002ezw.4_Silent_p.L398L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	381										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)				GTTCGGGACAGAACAGAAAGA	0.458000														26			13		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94670698	94670698	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94670698C>T	uc001dqj.4	-	6	985	c.616G>A	c.(616-618)Gag>Aag	p.E206K	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.E206K	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	206					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAAGCCAGCTCGATAGAGTCA	0.338000														53			14		0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683765	159683765	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159683765C>T	uc001ftw.3	-	1	329	c.225G>A	c.(223-225)aaG>aaA	p.K75K	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_5'Flank	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	75	Pentaxin.			YSIFSYATKRQDNEIL -> TVFSRMPPRDKTMRFF (in Ref. 4; CAA39671).	acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	TGTCTTGTCTCTTGGTGGCAT	0.453000														84			24		0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182988250	182988250	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:182988250C>T	uc003flm.3	+	1	1187	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Missense_Mutation_p.R222C|B3GNT5_uc003fll.3_Missense_Mutation_p.R222C|B3GNT5_uc021xic.1_Missense_Mutation_p.R222C	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	222					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTGGATTGGTCGTGTTCATCG	0.423000														165			64		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535765	69535765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69535765G>A	uc021xow.1	-	0	730	c.572C>T	c.(571-573)cCt>cTt	p.P191L		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	191					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ATAGGAAGGAGGGAACAGAAA	0.368000														216			52		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566685	136566685	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136566685C>T	uc002tuu.1	-	7	3243	c.3232G>A	c.(3232-3234)Gaa>Aaa	p.E1078K		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1078	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGGGGAAATTCCCCTGAGCCA	0.507000														28			16		0	0	1	0	0
WDR69	164781	broad.mit.edu	37	2	228786229	228786229	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228786229G>A	uc002vpn.1	+	11	1244	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	WDR69_uc010zlw.1_Missense_Mutation_p.E374K|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	389										breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GCACACTGATGAAATCTTTTC	0.438000														88			30		0	0	1	0	0
NCL	4691	broad.mit.edu	37	2	232320840	232320840	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:232320840G>A	uc002vru.3	-	11	1854	c.1713C>T	c.(1711-1713)tcC>tcT	p.S571S	SNORA75_uc002vrv.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	571					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		ACAGAGTTTTGGATGGCTCTG	0.438000														50			16		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16908679	16908680	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16908679_16908680CC>TT	uc002neu.4	+	15	3863_3864	c.3441_3442CC>TT	c.(3439-3444)tccctt>tcTTtt	p.L1148F	NWD1_uc002net.4_Missense_Mutation_p.L1013F|NWD1_uc002nev.4_Missense_Mutation_p.L942F|NWD1_uc021uqg.1_Missense_Mutation_p.L1013F	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1148							ATP binding	p.S1012S(1)|p.S1147S(1)		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						TCACGGGGTCCCTTGATGCGCT	0.520000														231			67		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641355	179641355	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179641355C>T	uc021vsy.1	-	27	5461	c.5236G>A	c.(5236-5238)Gaa>Aaa	p.E1746K	TTN_uc021vsz.1_Missense_Mutation_p.E1700K|TTN_uc021vta.1_Missense_Mutation_p.E1700K|TTN_uc021vtb.1_Missense_Mutation_p.E1700K|TTN_uc002unb.2_Missense_Mutation_p.E1746K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1746	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)			TTGGCTGCTTCAAGTGGCTTT	0.493000														50			15		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51375642	51375642	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:51375642G>A	uc001wyu.3	-	17	2336	c.2209C>T	c.(2209-2211)Cca>Tca	p.P737S	PYGL_uc010tqq.2_Missense_Mutation_p.P703S	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	737					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TTCAGCTCTGGAAGTGCCTCA	0.418000														113			37		0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28116381	28116381	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:28116381G>A	uc001zbh.4	-	20	2273	c.2163C>T	c.(2161-2163)ctC>ctT	p.L721L	OCA2_uc010ayv.3_Silent_p.L697L	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	721					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TGGCGGCTATGAGGCGCTGCT	0.577000									Oculocutaneous Albinism					51			19		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74635433	74635433	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74635433C>T	uc002axt.2	-	4	1030	c.875G>A	c.(874-876)gGa>gAa	p.G292E	CYP11A1_uc002axs.2_Missense_Mutation_p.G134E|CYP11A1_uc010bjm.1_Missense_Mutation_p.G134E|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Intron|CYP11A1_uc010ulj.1_Missense_Mutation_p.G72E	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	292					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GTGAACACTTCCTTTCTGTCT	0.517000														83			76		0	0	1	0	0
DCAF5	8816	broad.mit.edu	37	14	69558597	69558597	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:69558597G>A	uc001xkp.3	-	5	892	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	DCAF5_uc001xkq.3_Silent_p.L224L|DCAF5_uc001xkr.4_Silent_p.L225L	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	225						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CCATAGCGCAGGAGAGAACTG	0.542000														19			6		0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46915173	46915173	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46915173C>T	uc002pep.3	-	0	1747	c.895G>A	c.(895-897)Gct>Act	p.A299T		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	299						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTATCTGCAGCCTCTCCCCCC	0.647000														153			71		0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66083828	66083828	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66083828G>A	uc001ohm.1	-	0	688	c.671C>T	c.(670-672)tCa>tTa	p.S224L		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	224	Sushi.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CCCAGCCCGTGACCAGCCCAC	0.682000														56			15		0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40254023	40254023	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40254023C>T	uc001zkm.1	+	6	832	c.782C>T	c.(781-783)tCt>tTt	p.S261F	EIF2AK4_uc001zkl.3_Missense_Mutation_p.S261F|EIF2AK4_uc010bbj.1_5'UTR	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	261					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)		AGTGAAGATTCTCCTGGCTCT	0.323000														75			31		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324482	152324482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152324482C>T	uc001ezw.4	-	2	5853	c.5780G>A	c.(5779-5781)gGa>gAa	p.G1927E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1927							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)			AGTGGTATCTCCTGTCTGTCC	0.502000														245			101		0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683778	159683778	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159683778G>A	uc001ftw.3	-	1	316	c.212C>T	c.(211-213)tCg>tTg	p.S71L	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_5'Flank	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	71	Pentaxin.			YSIFSYATKRQDNEIL -> TVFSRMPPRDKTMRFF (in Ref. 4; CAA39671).	acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	GGTGGCATACGAGAAAATACT	0.448000														72			27		0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156230268	156230268	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156230268G>A	uc001foc.4	-	14	2406	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	753					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AGCAGGGGCCGATCCGTGTCA	0.557000														142			16		0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44102468	44102468	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:44102468C>T	uc003owr.3	+	1	211	c.147C>T	c.(145-147)ttC>ttT	p.F49F	TMEM63B_uc003owq.1_Silent_p.F49F|TMEM63B_uc010jyy.1_5'UTR|TMEM63B_uc003ows.3_5'Flank	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	49						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTCTCGACTTCATGTGCTTCC	0.607000														66			27		0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665012	6665012	+	Silent	SNP	G	A	A	rs143839697		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6665012G>A	uc002mfk.2	-	4	1030	c.648C>T	c.(646-648)gtC>gtT	p.V216V	TNFSF14_uc002mfj.2_Silent_p.V180V	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	216					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	p.V216V(2)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GCACACGGACGACCACCTTCT	0.622000														83			39		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119978560	119978560	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:119978560G>C	uc010inb.3	+	4	3453	c.3257G>C	c.(3256-3258)aGt>aCt	p.S1086T	SYNPO2_uc011cgh.2_Missense_Mutation_p.V88L|SYNPO2_uc010inc.3_Missense_Mutation_p.S956T	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	716						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTTTAGGAGAGTGGGCGCTCC	0.408000														55			21		0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567368	5567368	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:5567368G>A	uc001iie.1	+	0	445	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	AK128534_uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	Homo sapiens calmodulin-like 3 (CALML3), mRNA.	107	EF-hand 3.						calcium ion binding			endometrium(3)|lung(2)	5						GCCGAGCTGCGACACGTCATG	0.647000														31			17		0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852698	15852698	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15852698C>T	uc010xoq.2	+	0	496	c.496C>T	c.(496-498)Cac>Tac	p.H166Y		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GATGGTTTTTCACCTCACTTT	0.502000														98			46		0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23758277	23758277	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:23758277C>T	uc001bha.2	-	22	2582	c.2458G>A	c.(2458-2460)Gag>Aag	p.E820K	ASAP3_uc001bgy.1_Missense_Mutation_p.E324K|ASAP3_uc010odz.1_Missense_Mutation_p.E710K|ASAP3_uc010oea.1_Missense_Mutation_p.E811K	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	820					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CGGAGGCCCTCTTCAGAGTTG	0.652000														107			46		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371472	48371472	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48371472G>A	uc001jex.3	+	1	1102	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	ZNF488_uc021ppx.1_Missense_Mutation_p.E314K	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GAAGCGGAGAGAAGAGGCCCT	0.597000														91			38		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1263213	1263213	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1263213G>A	uc002qwq.3	+	13	1206	c.1077_splice	c.e13+1	p.K359_splice	SNTG2_uc010ewi.3_Splice_Site_p.K232_splice	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	359	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAGTTCACAAGGTAGGTATCT	0.433000														38			16		0	0	1	0	0
CDX2	1045	broad.mit.edu	37	13	28542661	28542661	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:28542661C>T	uc001urv.3	-	0	657	c.483G>A	c.(481-483)caG>caA	p.Q161Q		NM_001265	NP_001256	Q99626	CDX2_HUMAN	Homo sapiens caudal type homeobox 2 (CDX2), mRNA.	161					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GGTTCCGCCGCTGGCCGCCGG	0.726000			T	ETV6	AML									23			4		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16360108	16360108	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16360108G>A	uc001axu.3	+	19	2099	c.2019G>A	c.(2017-2019)atG>atA	p.M673I	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.M630I|CLCNKA_uc001axv.3_Missense_Mutation_p.M672I|CLCNKA_uc021ogl.1_Intron	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	673	CBS 2.				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)	TGTTCTAGATGAAGAAAGCAA	0.552000														55			15		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203680140	203680140	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203680140C>T	uc001gzw.3	+	11	2832	c.1935C>T	c.(1933-1935)ttC>ttT	p.F645F	ATP2B4_uc001gzv.3_Silent_p.F645F|ATP2B4_uc009xaq.3_Silent_p.F645F	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	645					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.F645fs*18(3)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCGGGACTTCGATGACACAG	0.532000														94			36		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31572557	31572557	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:31572557G>A	uc002rnv.1	-	25	3043	c.2964C>T	c.(2962-2964)ttC>ttT	p.F988F		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	988					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTTACTTGTTGAACTTGTCAA	0.458000														121			57		0	0	1	0	0
UBAC2	337867	broad.mit.edu	37	13	99992680	99992680	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:99992680C>T	uc010tiu.2	+	6	1069	c.734C>T	c.(733-735)tCt>tTt	p.S245F	UBAC2_uc001voa.4_Missense_Mutation_p.S223F|UBAC2_uc001vob.4_Missense_Mutation_p.S196F|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Missense_Mutation_p.S110F|UBAC2_uc001voc.3_Missense_Mutation_p.S188F|UBAC2_uc010tiw.2_Non-coding_Transcript|MIR548AN_uc021rly.1_Intron|UBAC2_uc001voh.3_Missense_Mutation_p.S27F	NM_177967	NP_808882	Q8NBM4	UBAC2_HUMAN	Homo sapiens UBA domain containing 2 (UBAC2), transcript variant 2, mRNA.	223						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCCATCTTCTCTTCTTCAGAA	0.532000														109			12		0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54275341	54275341	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:54275341G>A	uc004dtc.2	-	16	3879	c.3440C>T	c.(3439-3441)tCc>tTc	p.S1147F	WNK3_uc004dtd.2_Missense_Mutation_p.S1147F	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	1147					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						TTCAGCAGAGGAAGAAAATGG	0.438000														53			40		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152524385	152524385	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152524385C>T	uc021vrb.1	-	37	4681	c.4652G>A	c.(4651-4653)gGc>gAc	p.G1551D	NEB_uc002txu.3_Missense_Mutation_p.G1551D|NEB_uc021vrc.1_Missense_Mutation_p.G1551D|NEB_uc010fnx.3_Missense_Mutation_p.G1551D|NEB_uc021vrd.1_Missense_Mutation_p.G1551D	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1551					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAAATCATAGCCCTTGGCAAT	0.333000														37			15		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90007990	90007991	+	RNA	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:90007990_90007991GG>AA	uc010yts.2	+	13		c.2278_2279GG>AA								Parts of antibodies, mostly variable regions.																		CAGAAACCAGGGAAAGTTCCTA	0.525000														91			38		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149516467	149516467	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149516467C>T	uc010lpk.3	+	83	11861	c.11861C>T	c.(11860-11862)cCt>cTt	p.P3954L	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3957	TSP type-1 17.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGTGGGAACCTTGCTCCCGC	0.701000														21			4		0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57009030	57009030	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:57009030G>A	uc002eki.2	+	9	1005	c.948G>A	c.(946-948)tgG>tgA	p.W316*	CETP_uc002ekj.2_Nonsense_Mutation_p.W256*	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	316					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TGGAGACCTGGGGCTTCAACA	0.537000														44			17		0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76128799	76128799	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:76128799C>T	uc003keo.3	+	1	542	c.367C>T	c.(367-369)Ctc>Ttc	p.L123F		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	123					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		GGCTGACCTCCTCTCTGTCAT	0.463000														290			70		0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49710967	49710967	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:49710967G>A	uc002itv.4	-	8	1588	c.852C>T	c.(850-852)atC>atT	p.I284I	CA10_uc002itw.4_Silent_p.I278I|CA10_uc002itx.4_Silent_p.I278I|CA10_uc002ity.4_Silent_p.I278I|CA10_uc002itz.2_Silent_p.I278I	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	278					brain development			p.D284N(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TGCTCAGAAAGATCTGAGATG	0.512000														67			21		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88379792	88379792	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:88379792G>A	uc001tam.1	-	10	1129	c.961C>T	c.(961-963)Cac>Tac	p.H321Y	C12orf50_uc001tan.3_Missense_Mutation_p.H336Y	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	321										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TTATTGCGGTGATAACTCATT	0.453000														121			10		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175334294	175334294	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175334294C>T	uc001gkp.1	-	9	2520	c.2439G>A	c.(2437-2439)gaG>gaA	p.E813E	TNR_uc009wwu.1_Silent_p.E813E	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	813	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.D812H(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCTCTTCCTCCTCATCCCTGG	0.527000														46			25		0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209783237	209783237	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:209783237G>A	uc001hhd.3	+	8	892	c.790G>A	c.(790-792)Gag>Aag	p.E264K	CAMK1G_uc001hhf.4_Missense_Mutation_p.E264K|CAMK1G_uc001hhe.3_Missense_Mutation_p.E264K	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	264	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GGATCCGAACGAGCGGTACAC	0.498000														76			21		0	0	1	0	0
ACTR3B	57180	broad.mit.edu	37	7	152520487	152520487	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:152520487C>T	uc003wle.1	+	7	862	c.745C>T	c.(745-747)Ccc>Tcc	p.P249S	ACTR3B_uc003wlf.1_Missense_Mutation_p.P249S|ACTR3B_uc003wlg.1_Missense_Mutation_p.P161S|ACTR3B_uc011kvp.1_Missense_Mutation_p.P161S	NM_020445	NP_065178	Q9P1U1	ARP3B_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog B (yeast) (ACTR3B), transcript variant 1, mRNA.	249					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	ATP binding|actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		TGATGTGGATCCCCGGAAGTG	0.418000														136			71		0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917687	48917687	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48917687C>T	uc002isv.4	+	1	1732	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	WFIKKN2_uc010dbu.3_Silent_p.F253F	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	346	BPTI/Kunitz inhibitor 1.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCTGGCACTTCGATGCCCAGG	0.622000														65			25		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38851680	38851680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38851680G>A	uc021yzh.1	+	55	8274	c.8165G>A	c.(8164-8166)cGa>cAa	p.R2722Q	DNAH8_uc003ooe.2_Missense_Mutation_p.R2505Q	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTGGATAAGCGAATTGGAAGC	0.363000														72			39		0	0	1	0	0
EIF5AL1	143244	broad.mit.edu	37	10	81272760	81272760	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81272760C>T	uc009xrx.3	+	0	404	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F	AK302451_uc010qls.1_5'Flank	NM_001099692	NP_001093162	Q6IS14	IF5AL_HUMAN	Homo sapiens eukaryotic translation initiation factor 5A-like 1 (EIF5AL1), mRNA.	119					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TGAGGGAGACCTTGGCAAGGA	0.547000														166			16		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71709037	71709037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71709037C>T	uc010fen.3	+	2	317	c.176C>T	c.(175-177)cCc>cTc	p.P59L	DYSF_uc010fei.3_Missense_Mutation_p.P58L|DYSF_uc010feh.3_Missense_Mutation_p.P58L|DYSF_uc002sig.4_Missense_Mutation_p.P58L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P58L|DYSF_uc010fee.3_Missense_Mutation_p.P58L|DYSF_uc010fef.3_Missense_Mutation_p.P58L|DYSF_uc002sie.3_Missense_Mutation_p.P58L|DYSF_uc010feo.3_Missense_Mutation_p.P59L|DYSF_uc010fej.3_Missense_Mutation_p.P59L|DYSF_uc010fel.3_Missense_Mutation_p.P59L|DYSF_uc010fem.3_Missense_Mutation_p.P59L|DYSF_uc002sif.3_Missense_Mutation_p.P59L|DYSF_uc010fek.3_Missense_Mutation_p.P59L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	58	C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AAGGGCATCCCCCTGGACCAG	0.537000														25			11		0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49898258	49898258	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49898258C>T	uc003cxt.1	-	7	859	c.666G>A	c.(664-666)gaG>gaA	p.E222E	CAMKV_uc011bcy.1_Silent_p.E147E|CAMKV_uc003cxv.1_Silent_p.E194E|CAMKV_uc003cxw.1_Silent_p.E54E|CAMKV_uc003cxx.1_Silent_p.E54E|CAMKV_uc003cxu.2_Silent_p.E222E|CAMKV_uc011bcz.1_Silent_p.E185E|CAMKV_uc011bda.1_Silent_p.E179E|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	222	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTTCCACCTCCTCATAGAAAG	0.488000														134			53		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93819207	93819207	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:93819207C>T	uc001pep.2	+	10	2089	c.1932C>T	c.(1930-1932)tcC>tcT	p.S644S	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	644	Plastocyanin-like 4.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.R644S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATAGAGTTTCCTGGCATCTGA	0.468000														42			14		0	0	1	0	0
C4orf45	152940	broad.mit.edu	37	4	159836479	159836479	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:159836479C>T	uc003iqf.1	-	3	474	c.389G>A	c.(388-390)gGa>gAa	p.G130E	C4orf45_uc010iqt.1_Non-coding_Transcript	NM_152543	NP_689756	Q96LM5	CD045_HUMAN	Homo sapiens chromosome 4 open reading frame 45 (C4orf45), mRNA.	130										large_intestine(2)|lung(3)	5						ACTCTGTTTTCCTTGCATATC	0.433000														22			8		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275979	114275979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:114275979C>T	uc003ibe.4	+	37	6305	c.6205C>T	c.(6205-6207)Cgt>Tgt	p.R2069C	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.R2084C	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2036					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGAGGAGTTCGTGTTTCCTC	0.468000														50			76		0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111854894	111854894	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111854894C>T	uc001eas.3	+	3	295	c.138C>T	c.(136-138)atC>atT	p.I46I	CHIA_uc001ear.3_Intron|CHIA_uc001eaq.3_Intron|CHIA_uc009wgc.3_Intron|CHIA_uc001eat.3_Intron|CHIA_uc001eav.3_Intron|CHIA_uc001eau.3_Intron|CHIA_uc009wgd.3_Intron	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	46					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CTGACAACATCGACCCCTGCC	0.567000														88			39		0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125391169	125391169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125391169G>A	uc011lyz.2	-	0	646	c.646C>T	c.(646-648)Ccc>Tcc	p.P216S		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						AGGGCACAGGGGCCCAGCATA	0.537000														62			8		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885275	88885275	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:88885275C>T	uc003ydz.3	-	0	1022	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	309										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACATGACCTTCGTACTGTGTT	0.517000														71			13		0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162851822	162851822	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:162851822C>T	uc002ubz.3	-	23	2674	c.2113G>A	c.(2113-2115)Gga>Aga	p.G705R	DPP4_uc010fpb.3_Missense_Mutation_p.G381R	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	705					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TCTGCTGTTCCATGAATAAGG	0.363000														115			38		0	0	1	0	0
RND3	390	broad.mit.edu	37	2	151328151	151328151	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:151328151G>A	uc002txg.3	-	4	658	c.473C>T	c.(472-474)tCc>tTc	p.S158F	RND3_uc002txe.3_Missense_Mutation_p.S158F|RND3_uc010zbv.2_Intron	NM_005168	NP_005159	P61587	RND3_HUMAN	Homo sapiens Rho family GTPase 3 (RND3), transcript variant 2, mRNA.	158					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		CTGGTCATAGGACACTGGCGT	0.408000														168			11		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117243236	117243236	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:117243236G>A	uc003pxm.3	+	12	1422	c.1359G>A	c.(1357-1359)aaG>aaA	p.K453K		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	453					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AAGAACTGAAGGATCTCCTTA	0.353000														58			14		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46998940	46998940	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:46998940C>T	uc001jec.3	+	2	195	c.60C>T	c.(58-60)ccC>ccT	p.P20P	GPRIN2_uc021ppt.1_Silent_p.P20P	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	20										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCCTTCAGCCCCTGTCCCAGA	0.687000														134			9		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173569281	173569281	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:173569281C>T	uc001giz.2	-	2	626	c.203G>A	c.(202-204)gGa>gAa	p.G68E	SLC9C2_uc010pmq.1_Intron	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	68					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GGCCATGTGTCCTATCACGAA	0.348000														74			9		0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170239104	170239104	+	Missense_Mutation	SNP	G	A	A	rs147911240		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:170239104G>A	uc003mau.3	+	9	1363	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	GABRP_uc011dev.2_3'UTR	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	389						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAAACCAGCGACAAGTTCAA	0.408000														85			42		0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76812818	76812818	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:76812818G>A	uc003hix.3	-	3	581	c.224C>T	c.(223-225)cCc>cTc	p.P75L	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.P75L	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	75					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTGGCTGCTGGGGATGAAGTG	0.517000														221			85		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228562353	228562353	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228562353G>A	uc009xez.1	+	96	22607	c.22563G>A	c.(22561-22563)ctG>ctA	p.L7521L	OBSCN_uc001hsr.1_Silent_p.L2150L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7521	Ig-like 55.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCAGCTTCTGACCATCCTGG	0.622000														65			25		0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130932542	130932542	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:130932542G>A	uc002tqq.2	-	2	1337	c.188C>T	c.(187-189)cCc>cTc	p.P63L	SMPD4_uc002tqp.2_5'Flank|SMPD4_uc010yzy.2_Missense_Mutation_p.P63L|SMPD4_uc010yzz.2_Intron|SMPD4_uc002tqs.2_5'UTR|SMPD4_uc002tqr.2_Missense_Mutation_p.P63L|SMPD4_uc010zaa.2_5'UTR|SMPD4_uc010zab.2_Missense_Mutation_p.P63L|SMPD4_uc002tqt.2_5'UTR|SMPD4_uc010zac.2_Intron|SMPD4_uc010zad.2_Intron	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	24					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CTGTGCAAAGGGCTTATTTAT	0.443000														105			41		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142609852	142609852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142609852C>T	uc003wby.1	-	12	1848	c.1584G>A	c.(1582-1584)atG>atA	p.M528I		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	528					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TGAACAGTGCCATGGGGTAGT	0.498000														83			37		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111470544	111470544	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:111470544G>A	uc003iab.4	+	14	2536	c.2194G>A	c.(2194-2196)Gga>Aga	p.G732R		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	732					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGATTCTCTGGGATGGAATGA	0.313000														76			16		0	0	1	0	0
TRAV38-2DV8	28643	broad.mit.edu	37	14	22749075	22749075	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22749075C>T	uc010tmr.2	+	0	88	c.42C>T	c.(40-42)acC>acT	p.T14T	TCRA_uc001wbw.2_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_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron					SubName: Full=HADV38S2; Flags: Fragment;																		TGATCTCCACCTGTCTTGGTA	0.468000														96			45		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104122736	104122736	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:104122736C>T	uc001tjw.3	+	47	5231	c.5045C>T	c.(5044-5046)tCc>tTc	p.S1682F	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1682	FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AATGCTACTTCCCTCCAAGGA	0.498000														83			32		0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44489665	44489665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:44489665G>A	uc003cnf.2	-	7	1846	c.1498C>T	c.(1498-1500)Ctt>Ttt	p.L500F	ZNF445_uc011azv.1_Missense_Mutation_p.L488F|ZNF445_uc011azw.1_Missense_Mutation_p.L500F	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	500					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGATACGCAAGATGGGAGCTA	0.493000														72			42		0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58014179	58014179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:58014179C>T	uc001spe.3	+	0	487	c.176C>T	c.(175-177)tCt>tTt	p.S59F	BC073932_uc001spc.3_5'Flank|SLC26A10_uc001spf.3_Non-coding_Transcript	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	59						integral to membrane	antiporter activity	p.T58A(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTCTACACTTCTTTCTTCCCC	0.557000														534			155		0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058286	56058286	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56058286A>C	uc010rje.2	-	0	253	c.253T>G	c.(253-255)Tta>Gta	p.L85V		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAAGTCAGTAAGTTCGCTAAG	0.418000														346			134		0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110662232	110662232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:110662232C>T	uc011cft.2	-	13	1801	c.1593G>A	c.(1591-1593)ggG>ggA	p.G531G	CFI_uc003hzq.3_Silent_p.G320G|CFI_uc003hzr.4_Silent_p.G523G	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	523	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CTCCAGAGTCCCCTTTACAGG	0.463000														204			86		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102815	22102815	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22102815G>A	uc010tmc.2	-	0	184	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TACATGGGGCGAGCACAGAGC	0.512000														68			30		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132736524	132736524	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:132736524C>T	uc003kyn.1	-	3	533	c.315G>A	c.(313-315)ggG>ggA	p.G105G		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	105	Kazal-like.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATAAAACCTCCCATCAGAGC	0.587000														72			10		0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776054	5776054	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5776054G>A	uc001mbu.3	+	0	132	c.84G>A	c.(82-84)tgG>tgA	p.W28*	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CACAACTCTGGATTTCCTTCC	0.438000														69			27		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87092147	87092147	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87092147G>A	uc003uiv.1	-	3	289	c.213C>T	c.(211-213)ctC>ctT	p.L71L	ABCB4_uc003uiw.1_Silent_p.L71L|ABCB4_uc003uix.1_Silent_p.L71L|ABCB4_uc003uiy.3_Silent_p.L71L	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	71	ABC transmembrane type-1 1.			IMAIAHGSGLP -> RGSSRVDLQAC (in Ref. 5; CAA84542).	cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCATGAGGGGGAGACCTGATC	0.378000														60			18		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94993217	94993217	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94993217C>T	uc003unt.3	-	5	678	c.653G>A	c.(652-654)gGa>gAa	p.G218E	PON1_uc011kih.2_Intron|PON1_uc011kii.2_Missense_Mutation_p.G266E	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	219					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	p.G218E(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	ACTACAAAATCCTTTGGCCAC	0.428000														184			81		0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23406208	23406208	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:23406208C>T	uc002zwt.3	-	4	683	c.525G>A	c.(523-525)ctG>ctA	p.L175L		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.	175							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GGCAGAGGACCAGTGTGTCCA	0.577000														49			10		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11732253	11732253	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:11732253C>T	uc003jfa.1	-	1	314	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	57					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTACCTGTTCTTTGACTGAG	0.418000														137			12		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903240	6903240	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:6903240C>T	uc003bqm.2	+	0	439	c.165C>T	c.(163-165)ttC>ttT	p.F55F	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.F55F|GRM7_uc003bql.2_Silent_p.F55F	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	55					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGGGGCTGTTCCCCGTGCACG	0.692000														9			3		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024332	76024332	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:76024332C>T	uc010kbe.3	-	5	1755	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	FILIP1_uc003phy.1_Missense_Mutation_p.E406K|FILIP1_uc003phz.3_Missense_Mutation_p.E307K|FILIP1_uc003pia.3_Missense_Mutation_p.E406K|FILIP1_uc003pib.1_Missense_Mutation_p.E158K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	406										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCCTCAATTCCCTACACTGG	0.423000														143			14		0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138394383	138394383	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:138394383G>A	uc003vuf.3	-	19	2653	c.2415C>T	c.(2413-2415)gcC>gcT	p.A805A	ATP6V0A4_uc003vug.3_Silent_p.A805A|ATP6V0A4_uc003vuh.3_Silent_p.A805A	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	805					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.H804H(1)|p.A805T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCAGTCGCAGGGCGTGCAGGA	0.552000														212			83		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106926359	106926359	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106926359C>T	uc021ser.1	-	325		c.11509G>A								Parts of antibodies, mostly variable regions.																		CCAGACCCTTCCCCGGAGCTT	0.542000														153			72		0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763791	110763791	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:110763791G>A	uc003puf.3	-	3	906	c.839C>T	c.(838-840)cCc>cTc	p.P280L	SLC22A16_uc003pue.3_Missense_Mutation_p.P261L	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	280					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CAGGATAAAGGGGACAGTCAC	0.488000														46			32		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57425699	57425699	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57425699C>T	uc001cyp.3	-	1	310	c.243G>A	c.(241-243)aaG>aaA	p.K81K	C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_Silent_p.K29K	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	81	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TTACCCTTTTCTTCTGACAGG	0.532000														29			15		0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52852284	52852284	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52852284G>A	uc011bem.2	-	18	2211	c.2183C>T	c.(2182-2184)aCc>aTc	p.T728I	ITIH4_uc011bel.2_Missense_Mutation_p.T423I|ITIH4_uc003dfy.3_Missense_Mutation_p.T557I|ITIH4_uc003dfz.3_Missense_Mutation_p.T723I|ITIH4_uc011ben.2_Missense_Mutation_p.T693I	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	723					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGGGGTTTGGGTTGTCATGGT	0.597000														65			11		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562487	145562487	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:145562487C>T	uc001eob.1	+	9	2283	c.2175C>T	c.(2173-2175)tcC>tcT	p.S725S	ANKRD35_uc010oyx.1_Silent_p.S568S	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	725										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGCGGAGTCCCTGGAGGAGC	0.667000														18			3		0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154684136	154684136	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:154684136G>A	uc003wlk.3	+	25	2673	c.2544G>A	c.(2542-2544)agG>agA	p.R848R	DPP6_uc003wli.3_Silent_p.R784R|DPP6_uc003wlm.3_Silent_p.R786R|DPP6_uc011kvq.2_Silent_p.R741R	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	848					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AATGCTTCAGGATCCAGGACA	0.502000														99			51		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181341	140181341	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140181341G>A	uc003lhf.2	+	0	559	c.559G>A	c.(559-561)Gag>Aag	p.E187K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.E187K	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	202	Cadherin 2.				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)			AAGAAATGATGAGGAAATTAA	0.373000														57			40		0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38803830	38803830	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:38803830G>A	uc001zke.4	-	7	1119	c.941C>T	c.(940-942)tCg>tTg	p.S314L	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Missense_Mutation_p.S176L|RASGRP1_uc010bbg.3_Missense_Mutation_p.S176L|RASGRP1_uc001zkd.4_Missense_Mutation_p.S314L	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	314	Ras-GEF.				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	p.S314L(4)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGGGACATGCGAACTTGTCTC	0.493000														80			9		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075177	106075177	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106075177G>A	uc001kyf.3	-	2	1086	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ITPRIP_uc001kye.3_Silent_p.F211F|ITPRIP_uc001kyg.3_Silent_p.F211F|ITPRIP_uc021pxv.1_Silent_p.F211F	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	211						plasma membrane		p.F211F(2)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGAAGGGCACGAAAAGGTGGC	0.637000														62			34		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583815	82583815	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82583815C>T	uc003uhx.2	-	4	6743	c.6454G>A	c.(6454-6456)Gaa>Aaa	p.E2152K	PCLO_uc003uhv.2_Missense_Mutation_p.E2152K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2083					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						TCTTGAATTTCTCTTGTATAA	0.413000														63			33		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373317	126373317	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126373317C>T	uc003ifj.4	+	8	11146	c.11146C>T	c.(11146-11148)Cgt>Tgt	p.R3716C	FAT4_uc011cgp.2_Missense_Mutation_p.R2014C|FAT4_uc003ifi.1_Missense_Mutation_p.R1194C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3716					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R3716C(6)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATCTTACTTCGTCTCGGCGT	0.468000														166			16		0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48076025	48076025	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:48076025G>A	uc003gxx.4	-	12	1370	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	TXK_uc010igj.3_Intron|TXK_uc011bzj.2_Silent_p.F115F	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	428	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						ACTTGATTGGGAACTTGGCTC	0.388000														90			9		0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51449363	51449363	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:51449363G>A	uc010lxy.1	+	11	1046	c.675G>A	c.(673-675)ttG>ttA	p.L225L	SNTG1_uc003xqs.1_Silent_p.L225L|SNTG1_uc010lxz.1_Silent_p.L225L|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	225					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.D224A(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCACAGATTTGAGTCGGTGAG	0.453000														166			19		0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109924794	109924794	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:109924794C>T	uc004eou.4	-	9	1421	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	CHRDL1_uc004eov.3_Missense_Mutation_p.E347K|CHRDL1_uc004eow.3_Missense_Mutation_p.E356K|CHRDL1_uc010nps.3_Missense_Mutation_p.E357K|CHRDL1_uc011mss.2_Missense_Mutation_p.E278K	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	350					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TCCCCATCCTCCATGAATACA	0.473000														39			72		0	0	1	0	0
DRG1	4733	broad.mit.edu	37	22	31807018	31807018	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31807018C>T	uc003aku.3	+	3	494	c.363C>T	c.(361-363)atC>atT	p.I121I		NM_004147	NP_004138	Q9Y295	DRG1_HUMAN	Homo sapiens developmentally regulated GTP binding protein 1 (DRG1), mRNA.	121	G.				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						TCCCAGGTATCATTGAAGGTG	0.413000														58			23		0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18507007	18507007	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18507007C>T	uc002niw.3	-	0	1409	c.767G>A	c.(766-768)tGg>tAg	p.W256*	LRRC25_uc002nix.3_Nonsense_Mutation_p.W256*	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	Homo sapiens leucine rich repeat containing 25 (LRRC25), mRNA.	256						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TTGTTCATCCCACTGGTGCTC	0.597000														83			20		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55151968	55151968	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55151968G>A	uc010ooe.1	+	14	2882	c.2558G>A	c.(2557-2559)aGc>aAc	p.S853N	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.S421N|HEATR8_uc010ood.1_Missense_Mutation_p.S371N|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Intron|HEATR8_uc010oog.1_Missense_Mutation_p.S853N|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.S55N|HEATR8_uc001cxu.3_5'UTR	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	853						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						TCCGTCAACAGCTGCATGGGC	0.652000														35			12		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163279938	163279938	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:163279938G>A	uc002uch.2	-	8	2291	c.2062C>T	c.(2062-2064)Cgc>Tgc	p.R688C	KCNH7_uc002uci.3_Missense_Mutation_p.R681C	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	688					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.R688H(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGGTGAAAGCGAATGAACTCT	0.438000														189			26		0	0	1	0	0
PAGE4	9506	broad.mit.edu	37	X	49597218	49597218	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:49597218C>T	uc004don.1	+	3	336	c.257C>T	c.(256-258)cCa>cTa	p.P86L		NM_007003	NP_008934	O60829	GAGC1_HUMAN	Homo sapiens P antigen family, member 4 (prostate associated) (PAGE4), mRNA.	86												Ovarian(276;0.236)					GAGAAGACTCCACCTAATCCT	0.383000														30			20		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401379	77401379	+	Missense_Mutation	SNP	C	T	T	rs146432168		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:77401379C>T	uc002ffc.4	-	3	1156	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	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.	246					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R246*(1)		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						TTGCAACCTTCGATGGTGATA	0.483000														64			28		0	0	1	0	0
C20orf118	140711	broad.mit.edu	37	20	35506399	35506399	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:35506399C>T	uc002xgg.1	+	1	139	c.131C>T	c.(130-132)cCc>cTc	p.P44L	C20orf118_uc021wcz.1_Missense_Mutation_p.P44L	NM_080628	NP_542195	A0PJX2	CT118_HUMAN	Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA.	44										kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	9		Myeloproliferative disorder(115;0.00874)				CCTGAGGATCCCACGGTGCCC	0.607000														73			21		0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350363	51350363	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51350363C>T	uc001zyy.3	-	2	694	c.594G>A	c.(592-594)aaG>aaA	p.K198K		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	198										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		GGTTCAGCTTCTTCCGGAACT	0.488000														107			13		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105405844	105405844	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105405844A>G	uc010axc.1	-	6	16064	c.15944T>C	c.(15943-15945)cTt>cCt	p.L5315P	AHNAK2_uc021sen.1_Missense_Mutation_p.L712P|AHNAK2_uc021seo.1_Missense_Mutation_p.L313P|AHNAK2_uc001ypx.2_Missense_Mutation_p.L5215P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5315						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTTTCTGGAAGCCTCATGCC	0.507000														31			19		0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56531834	56531834	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56531834C>T	uc001sjr.3	+	19	2371	c.2253C>T	c.(2251-2253)gtC>gtT	p.V751V	ESYT1_uc001sjq.3_Silent_p.V741V	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	741						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TCACCACAGTCTTAAACAGTG	0.468000														124			22		0	0	1	0	0
PION	54103	broad.mit.edu	37	7	76955545	76955545	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:76955545C>T	uc003ugf.3	-	22	1890	c.1811G>A	c.(1810-1812)cGg>cAg	p.R604Q	PION_uc011kgo.2_5'UTR|PION_uc003ugd.3_5'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	604					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATGAGCAGCCGCTGGTGGCT	0.512000														69			23		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5058617	5058617	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:5058617C>T	uc002cye.2	+	13	1948	c.1768C>T	c.(1768-1770)Ccc>Tcc	p.P590S		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	590	GOLD.					integral to membrane|intracellular	transporter activity	p.P590A(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGTGGAGGCTCCCCTTGTCTG	0.657000														70			26		0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183888435	183888435	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183888435C>T	uc003fms.3	+	14	2183	c.2043C>T	c.(2041-2043)gcC>gcT	p.A681A	DVL3_uc011bqw.2_Silent_p.A664A|DVL3_uc003fmt.3_Silent_p.A352A|DVL3_uc003fmu.3_Silent_p.A513A	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	681					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCCCAGGAGCCCCTCCGGGCC	0.697000														19			15		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513213	78513213	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:78513213C>T	uc001syp.3	+	14	3410	c.3237C>T	c.(3235-3237)atC>atT	p.I1079I	NAV3_uc001syo.3_Silent_p.I1079I|NAV3_uc010sub.2_Silent_p.I579I|NAV3_uc009zsf.3_Silent_p.I87I	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1079	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						CTGCCATGATCACCAGCAGTG	0.498000										HNSCC(70;0.22)				72			6		0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22303555	22303555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22303555C>T	uc001bfk.3	+	0	138	c.23C>T	c.(22-24)tCc>tTc	p.S8F	CELA3B_uc009vqf.3_Missense_Mutation_p.S7F	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	8					cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CTGCTCAGTTCCCTCCTCCTT	0.527000														230			86		0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123629551	123629551	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:123629551G>A	uc001lfp.3	-	7	1027	c.945C>T	c.(943-945)ttC>ttT	p.F315F	ATE1_uc001lfq.3_Silent_p.F315F|ATE1_uc010qtr.2_Silent_p.F200F|ATE1_uc010qts.2_Silent_p.F219F|ATE1_uc010qtt.2_Silent_p.F308F|ATE1_uc001lfr.3_Silent_p.F16F|ATE1_uc009xzu.3_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	315					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GGAATCTTGTGAACTGCAGTC	0.338000														69			35		0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126091028	126091028	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:126091028G>A	uc003yrt.3	-	5	992	c.663C>T	c.(661-663)ttC>ttT	p.F221F	KIAA0196_uc011lir.2_Silent_p.F73F	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	221					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CCATACTGATGAAGGATTCGT	0.413000														80			29		0	0	1	0	0
MATN3	4148	broad.mit.edu	37	2	20205896	20205896	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:20205896G>A	uc002rdl.3	-	1	462	c.399C>T	c.(397-399)atC>atT	p.I133I	MATN3_uc010exu.1_Silent_p.I133I	NM_002381	NP_002372	O15232	MATN3_HUMAN	Homo sapiens matrilin 3 (MATN3), mRNA.	133	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTGGAACTCGATCTTCACAG	0.547000														25			15		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508413	37508413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:37508413G>A	uc021ppc.1	+	33	3704	c.3605G>A	c.(3604-3606)aGg>aAg	p.R1202K	ANKRD30A_uc001iza.1_Missense_Mutation_p.R1202K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1258						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAAGCTCAAAGGAAATCCAAA	0.363000														54			13		0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2928182	2928182	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:2928182C>T	uc011mhj.2	+	1	204	c.204C>T	c.(202-204)ccC>ccT	p.P68P		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	68						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCCGGTACCCCATCAGATCAG	0.483000														6			9		0	0	1	0	0
KIAA0146	23514	broad.mit.edu	37	8	48614394	48614394	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:48614394C>T	uc003xqd.3	+	12	1947	c.1885C>T	c.(1885-1887)Cca>Tca	p.P629S	KIAA0146_uc011ldb.2_Missense_Mutation_p.P629S|KIAA0146_uc010lxs.3_Missense_Mutation_p.P104S|KIAA0146_uc011ldc.2_Missense_Mutation_p.P559S|KIAA0146_uc011ldd.2_Missense_Mutation_p.P569S|KIAA0146_uc003xqe.3_Missense_Mutation_p.P104S|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Missense_Mutation_p.P318S|KIAA0146_uc010lxt.3_Missense_Mutation_p.P318S|KIAA0146_uc011ldf.2_Missense_Mutation_p.P134S|KIAA0146_uc011ldg.2_Missense_Mutation_p.P119S|KIAA0146_uc010lxv.1_Missense_Mutation_p.P123S	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	629										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				TTACCAGCCTCCAGTTACCCG	0.448000														248			95		0	0	1	0	0
EPO	2056	broad.mit.edu	37	7	100320391	100320391	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100320391C>A	uc003uwi.3	+	3	532	c.351C>A	c.(349-351)ccC>ccA	p.P117P	EPO_uc011kkc.1_Silent_p.P117P	NM_000799	NP_000790	P01588	EPO_HUMAN	Homo sapiens erythropoietin (EPO), mRNA.	117					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CGTGGGAGCCCCTGCAGCTGC	0.652000														39			19		5.26018e-13	5.28288e-13	1	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138768660	138768660	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:138768660A>T	uc003vun.3	-	2	951	c.563T>A	c.(562-564)cTc>cAc	p.L188H	ZC3HAV1_uc003vup.3_Missense_Mutation_p.L188H	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	188					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATGGGACCGGAGGCAGTTGGG	0.572000														50			16		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332299	70332299	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70332299G>A	uc001oqc.3	-	20	4013	c.3901C>T	c.(3901-3903)Ccc>Tcc	p.P1301S	SHANK2_uc010rqn.2_Missense_Mutation_p.P777S|SHANK2_uc001opz.3_Missense_Mutation_p.P772S|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	988					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACGGTGGTGGGCTCGGGGGCA	0.627000														30			20		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34180240	34180240	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:34180240C>T	uc002nus.4	+	2	578	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	CHST8_uc002nut.4_Missense_Mutation_p.L25F|CHST8_uc002nuu.3_Missense_Mutation_p.L25F	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	25					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					AGCTGCAGGCCTCCTCCTCTT	0.637000														101			42		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	70998852	70998852	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:70998852G>A	uc001jpf.4	+	4	683	c.550G>A	c.(550-552)Gat>Aat	p.D184N	HKDC1_uc010qje.2_Missense_Mutation_p.D47N	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	184					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCAGGACACGGATGTGGTGAG	0.512000														40			11		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72938120	72938120	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72938120C>T	uc010wrr.2	+	2	615	c.615C>T	c.(613-615)ttC>ttT	p.F205F	OTOP3_uc010wrq.2_Silent_p.F187F	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	205						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGATGGTCTTCATCGGCGTCC	0.557000														34			12		0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149901663	149901663	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:149901663G>A	uc001etl.4	-	15	2044	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Missense_Mutation_p.S526F	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	598	Myotubularin phosphatase.						phosphatase activity	p.L597delL(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCTTTCAGAGGAGATAGCAGG	0.602000														74			25		0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8530211	8530212	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8530211_8530212CC>TT	uc010dwe.3	+	5	522_523	c.442_443CC>TT	c.(442-444)cct>TTt	p.P148F	HNRNPM_uc010dwc.1_Missense_Mutation_p.P148F|HNRNPM_uc010xke.1_Missense_Mutation_p.P148F|HNRNPM_uc010dwd.3_Missense_Mutation_p.P148F|HNRNPM_uc002mka.3_Missense_Mutation_p.P28F	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	148	RRM 1.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GTTTTAGGATCCTGATGGTGAA	0.460000														176			17		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68606139	68606139	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:68606139C>T	uc010bib.3	-	22	2947	c.2860G>A	c.(2860-2862)Gag>Aag	p.E954K	ITGA11_uc002ari.3_Missense_Mutation_p.E954K	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	954					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ACGTCAGCCTCGTATTTGAGG	0.637000														32			7		0	0	1	0	0
TMEM9	252839	broad.mit.edu	37	1	201115880	201115881	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201115880_201115881GG>AA	uc010ppo.2	-	3	425_426	c.329_330CC>TT	c.(328-330)acc>aTT	p.T110I	TMEM9_uc001gvx.3_Missense_Mutation_p.T85I|TMEM9_uc001gvy.3_Missense_Mutation_p.T85I|TMEM9_uc001gvz.3_Missense_Mutation_p.T88I|TMEM9_uc001gwa.3_Missense_Mutation_p.T85I|TMEM9_uc010ppp.1_Missense_Mutation_p.T85I	NM_016456	NP_057540	Q9P0T7	TMEM9_HUMAN	Homo sapiens transmembrane protein 9 (TMEM9), mRNA.	85					transport	integral to membrane|late endosome membrane|lysosomal membrane				liver(1)|lung(1)|stomach(1)	3		Breast(1374;0.000301)				TGATGGTGGTGGTGCTGCGCTC	0.589000														99			19		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	124097438	124097438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:124097438C>T	uc010nqy.3	-	0	229	c.165G>A	c.(163-165)atG>atA	p.M55I	ODZ1_uc011muj.2_Missense_Mutation_p.M55I|ODZ1_uc004euj.3_Missense_Mutation_p.M55I	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	55	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TATTGTAATTCATCCTCAGCT	0.373000														82			106		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215914768	215914768	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:215914768C>T	uc001hku.1	-	59	12047	c.11660G>A	c.(11659-11661)tGg>tAg	p.W3887*		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3887	Fibronectin type-III 24.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W3887C(1)		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)		AGGTGGCATCCACTTAATCTC	0.383000										HNSCC(13;0.011)				117			44		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256254	15256254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15256254C>T	uc001iob.3	-	7	1340	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	445						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTGAGGTTATCAAAGGAGATC	0.498000														51			23		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532391	50532391	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50532391C>T	uc021pqb.1	+	0	1801	c.1801C>T	c.(1801-1803)Ccc>Tcc	p.P601S	C10orf71_uc021pqa.1_Missense_Mutation_p.P600S|C10orf71_uc021pqc.1_Missense_Mutation_p.P601S	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	601										endometrium(1)	1						CGCCAAAGCCCCCTTCTATGT	0.547000														23			10		0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74326663	74326663	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74326663G>A	uc010wtb.1	-	4	460	c.239C>T	c.(238-240)tCa>tTa	p.S80L	PRPSAP1_uc010wta.1_Missense_Mutation_p.S183L	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	154					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CAGGAAAGGTGAGGCTCTAAG	0.388000														60			25		0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219499293	219499293	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219499293G>A	uc021vwx.1	+	12	2175	c.1836G>A	c.(1834-1836)caG>caA	p.Q612Q		NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	612					intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GTGATATCCAGAGTTCTTTCC	0.498000														190			72		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167626901	167626901	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:167626901C>T	uc010jjd.3	+	16	3168	c.3168C>T	c.(3166-3168)tcC>tcT	p.S1056S	ODZ2_uc003lzr.4_Silent_p.S833S|ODZ2_uc003lzt.4_Silent_p.S429S|ODZ2_uc010jje.3_Silent_p.S327S	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)		TCCCTGGTTCCAATGTGAAAC	0.493000														193			16		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125844486	125844486	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:125844486C>T	uc003eim.1	-	14	1963	c.1773G>A	c.(1771-1773)ggG>ggA	p.G591G	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.G490G	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	591	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCACTGTGTTCCCGGCAGCCA	0.572000														74			26		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61990996	61990996	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61990996G>A	uc002yes.2	-	1	310	c.132C>T	c.(130-132)ctC>ctT	p.L44L	CHRNA4_uc002yet.1_Intron|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	44					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	AACCGGAGAAGAGTTTCTTCA	0.652000														77			7		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14724464	14724464	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:14724464G>A	uc003byy.3	+	2	696	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	C3orf20_uc003byz.3_Intron|C3orf20_uc003bza.3_Intron|C3orf20_uc003byx.2_Missense_Mutation_p.E82K	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	82						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GGTGCTCATGGAACCCACCTT	0.607000														43			14		0	0	1	0	0
RPL13AP6	644511	broad.mit.edu	37	10	112696573	112696573	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:112696573T>C	uc010qrh.1	-	0	441	c.419A>G	c.(418-420)cAc>cGc	p.H140R	SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron					Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.									p.H140R(2)									GTGAGCCAGGTGCCCCAGATA	0.537000														20			3		0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64507629	64507629	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64507629G>A	uc009ypu.3	-	5	605	c.378C>T	c.(376-378)acC>acT	p.T126T	RASGRP2_uc001oat.3_Silent_p.T28T|RASGRP2_uc001oau.3_5'UTR|RASGRP2_uc009ypv.3_Silent_p.T126T|RASGRP2_uc009ypw.3_Silent_p.T126T	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	126	N-terminal Ras-GEF.				Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCACTTGTAGGTAGGGCTGG	0.597000														67			25		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162696315	162696315	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:162696315G>A	uc002ubx.4	+	3	478	c.294G>A	c.(292-294)agG>agA	p.R98R	SLC4A10_uc010fpa.1_Silent_p.R110R|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Silent_p.R109R|SLC4A10_uc002uby.4_Silent_p.R98R	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	98					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CATCACAGAGGGTACAGTTTA	0.453000														43			15		0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6498355	6498355	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:6498355G>A	uc002gde.4	-	15	2736	c.2377C>T	c.(2377-2379)Cgt>Tgt	p.R793C	KIAA0753_uc010vtd.2_Missense_Mutation_p.R249C|KIAA0753_uc010clo.3_Missense_Mutation_p.R494C|KIAA0753_uc010vte.2_Missense_Mutation_p.R494C	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	793						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TATCTTTGACGAACAGACTCC	0.308000														28			31		0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75398191	75398191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:75398191C>T	uc002jts.4	+	2	253	c.127C>T	c.(127-129)Cca>Tca	p.P43S	SEPT9_uc010wtk.2_Missense_Mutation_p.P24S|SEPT9_uc002jtt.4_5'UTR|SEPT9_uc002jtu.4_Missense_Mutation_p.P25S|SEPT9_uc002jtv.3_Missense_Mutation_p.P36S|SEPT9_uc002jtw.3_5'UTR|SEPT9_uc002jtx.1_5'UTR|SEPT9_uc010wtl.2_5'Flank	NM_001113491	NP_001106968	Q9UHD8	SEPT9_HUMAN	Homo sapiens septin 9 (SEPT9), transcript variant 1, mRNA.	43					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CAACTCCACCCCACCCCGGAG	0.567000														49			19		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533756	92533756	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92533756G>A	uc001pdj.4	+	8	7594	c.7577G>A	c.(7576-7578)gGg>gAg	p.G2526E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2526	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGTGATCCAGGGACTTATGGG	0.493000										TCGA Ovarian(4;0.039)				19			4		0	0	1	0	0
BTF3P11	690	broad.mit.edu	37	13	77502816	77502816	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:77502816C>T	uc001vkb.4	+	0		c.232C>T								Homo sapiens basic transcription factor 3 pseudogene 11 (BTF3P11), non-coding RNA.																		GATCATAAACCAGTGCTGCAG	0.488000														46			15		0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113234613	113234613	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113234613C>T	uc001pnv.3	+	19	1903	c.1798C>T	c.(1798-1800)Cat>Tat	p.H600Y	TTC12_uc001pnu.3_Missense_Mutation_p.H594Y|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Missense_Mutation_p.H444Y	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	594							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GAATAGTTATCATGAAGCTCG	0.388000														46			18		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577743	9577743	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9577743G>A	uc002mlp.1	-	9	2090	c.1880C>T	c.(1879-1881)cCc>cTc	p.P627L	ZNF560_uc010dwr.1_Missense_Mutation_p.P521L	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K626K(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ATATTCATAGGGCTTATCTCC	0.393000														120			46		0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113512583	113512583	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:113512583C>T	uc001vsj.4	+	21	2734	c.2646C>T	c.(2644-2646)ctC>ctT	p.L882L	ATP11A_uc001vsi.4_Silent_p.L882L|ATP11A_uc001vsm.1_Silent_p.L758L|ATP11A_uc010ago.3_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	882					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)				TCTCTGAGCTCGTGCAGTACT	0.507000														55			12		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131922087	131922087	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:131922087C>T	uc003ytd.4	-	5	1763	c.1507G>A	c.(1507-1509)Gat>Aat	p.D503N	ADCY8_uc010mds.3_Missense_Mutation_p.D503N	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	503					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGTCAACATCGTGTTTTGTC	0.478000										HNSCC(32;0.087)				91			17		0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54142292	54142292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:54142292C>T	uc003xrh.1	-	2	1083	c.708G>A	c.(706-708)gtG>gtA	p.V236V	OPRK1_uc022aup.1_Silent_p.V116V|OPRK1_uc003xri.1_Silent_p.V236V|OPRK1_uc010lyc.1_Silent_p.V147V	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	236					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.F235F(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GGACAGGGATCACGAAGGCAA	0.532000														51			18		0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402395	248402395	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248402395C>T	uc010pzh.2	+	0	165	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			AGAAACAGCTCCACACCCCCA	0.483000														184			77		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77425644	77425644	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:77425644G>A	uc021sqy.1	-	6	4356	c.3780C>T	c.(3778-3780)ccC>ccT	p.P1260P		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1260					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GTCTGCAAGAGGGCCCACGCC	0.527000														135			49		0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10584713	10584713	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10584713G>A	uc001qyk.2	-	4	583	c.576C>T	c.(574-576)ttC>ttT	p.F192F	KLRC2_uc001qyh.3_Intron|KLRC2_uc010she.1_Silent_p.F192F	NM_002260	NP_002251	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 2 (KLRC2), mRNA.	192	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ACTTATGTTTGAAAGCCAAAC	0.313000														36			7		0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61986905	61986905	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:61986905C>T	uc001vid.4	-	1	1691	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	PCDH20_uc010thj.2_Missense_Mutation_p.E443K	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	416	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		GGTTCCAGTTCTTTCAGATAA	0.418000														103			35		0	0	1	0	0
ZNF837	116412	broad.mit.edu	37	19	58879844	58879844	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58879844G>A	uc002qsm.3	-	2	1179	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	ZNF837_uc002qsl.4_Silent_p.L286L|ZNF837_uc021vcx.1_Silent_p.L286L	NM_001129730	NP_612475	Q96EG3	ZN837_HUMAN	Homo sapiens zinc finger protein 837 (ZNF837), transcript variant 1, mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|skin(1)	2						TGCTGCAGCAGGCTGGAGGTG	0.701000														7			4		0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40774549	40774549	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:40774549G>A	uc004abs.2	-	4	878	c.726C>T	c.(724-726)tcC>tcT	p.S242S	ZNF658_uc010mmm.2_Silent_p.S242S|ZNF658_uc010mmn.1_Silent_p.S242S	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CATCCTTACAGGACTTTTCTC	0.328000														93			24		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149879693	149879693	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:149879693G>A	uc001etg.3	-	8	1936	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	SV2A_uc009wlk.3_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.S482F	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	482					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TTTGGTGCGGGATGCGTAGTC	0.527000														155			47		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37282783	37282783	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:37282783G>A	uc001caz.2	-	12	2104	c.1969C>T	c.(1969-1971)Ctg>Ttg	p.L657L	GRIK3_uc001cba.1_Silent_p.L657L	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	657					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AAGGCAGCCAGGTTGGCCGTG	0.552000														57			36		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45709910	45709910	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45709910C>T	uc002zei.2	+	6	965	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	AIRE_uc010gpq.2_5'Flank|AIRE_uc002zej.2_5'Flank|AIRE_uc010gpr.2_5'Flank	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	280	SAND.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGGCAGCGTTCCCGCCCCTCT	0.687000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					19			7		0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233244485	233244485	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233244485G>A	uc002vsq.3	+	4	661	c.496G>A	c.(496-498)Gga>Aga	p.G166R		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	166						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GAAGTCAGTGGGAGTGGTAAC	0.632000														42			15		0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58439036	58439036	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58439036G>A	uc002qqs.1	-	3	805	c.513C>T	c.(511-513)agC>agT	p.S171S	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Silent_p.S86S	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GTAATCCTGAGCTGGGCAAAA	0.478000														70			34		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101551177	101551177	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:101551177C>T	uc001thz.4	-	14	2103	c.1713G>A	c.(1711-1713)aaG>aaA	p.K571K		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	571	Poly-Lys.				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAACATGCTTCTTCTAAAAGA	0.343000														11			3		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740234	62740234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62740234C>T	uc001dah.4	-	2	919	c.542G>A	c.(541-543)aGc>aAc	p.S181N	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	181										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGGCCCCAGGCTCAGGCCTGG	0.637000														33			4		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140846790	140846790	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140846790C>T	uc004cog.3	+	6	1176	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	CACNA1B_uc022bqn.1_Missense_Mutation_p.S344F	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	344					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ATCATCGGCTCCTTCTTCATG	0.582000														60			7		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47173598	47173598	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:47173598C>T	uc001rpi.2	-	8	1022	c.623G>A	c.(622-624)gGa>gAa	p.G208E	SLC38A4_uc001rpj.2_Missense_Mutation_p.G208E|SLC38A4_uc009zkl.2_Missense_Mutation_p.G208E	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	208					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					AAGAATAATTCCAACAGACAC	0.303000														48			17		0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33517487	33517487	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:33517487G>A	uc002nuf.3	-	2	303	c.237C>T	c.(235-237)ttC>ttT	p.F79F	RHPN2_uc010xro.2_5'UTR|RHPN2_uc002nue.3_5'UTR	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	79					signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CTGAGTTGACGAAGCTCAGCT	0.562000														68			113		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91766302	91766302	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:91766302C>T	uc010aty.3	-	20	3902	c.3748G>A	c.(3748-3750)Gag>Aag	p.E1250K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1250					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCTGGTTCTCGCCCATGGCG	0.652000														9			3		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721144	160721144	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:160721144A>G	uc003lys.1	-	10	1701	c.1483T>C	c.(1483-1485)Ttc>Ctc	p.F495L	GABRB2_uc011deh.1_Missense_Mutation_p.F296L|GABRB2_uc003lyr.1_Missense_Mutation_p.F457L|GABRB2_uc003lyt.1_Missense_Mutation_p.F457L	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	495					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACCACTGGGAAGAATATGCGG	0.463000														73			30		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110717531	110717531	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110717531C>T	uc009wfq.3	+	4	1163	c.702C>T	c.(700-702)gcC>gcT	p.A234A		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	234					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TCCTCGTGGCCTGGAGCATCG	0.602000														43			23		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42581868	42581868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:42581868C>T	uc003gwr.2	-	10	1194	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	ATP8A1_uc003gws.2_Missense_Mutation_p.R321Q|ATP8A1_uc011byz.1_Missense_Mutation_p.R321Q	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	321					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.R321Q(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AGAATGCCTTCGATTCCAAAT	0.338000														52			14		0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51465313	51465313	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:51465313C>T	uc001jio.3	-	6	1269	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	381	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.L380I(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TGCTTTTCTTCTTTAGGTGTT	0.517000														111			30		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20848472	20848472	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20848472G>A	uc001vxe.3	-	33	4965	c.4925C>T	c.(4924-4926)tCg>tTg	p.S1642L	TEP1_uc010ahk.3_Missense_Mutation_p.S985L|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.S1534L|TEP1_uc010tlh.1_5'UTR	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1642					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGAGAGCAGCGAGGCTTGGTG	0.587000														154			68		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17592160	17592160	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17592160C>T	uc001bai.3	+	3	393	c.353C>T	c.(352-354)tCt>tTt	p.S118F		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	118					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCAGACATCTCTCTGGATTGC	0.567000														84			40		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	95001514	95001514	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:95001514G>A	uc003unt.3	-	3	363	c.338C>T	c.(337-339)cCa>cTa	p.P113L	PON1_uc011kih.2_Intron|PON1_uc011kii.2_Missense_Mutation_p.P161L	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	114					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GATCCCATGTGGATTAAATAA	0.393000														93			35		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579556	82579556	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82579556C>T	uc003uhx.2	-	5	10637	c.10348G>A	c.(10348-10350)Gaa>Aaa	p.E3450K	PCLO_uc003uhv.2_Missense_Mutation_p.E3450K|PCLO_uc010lec.3_Missense_Mutation_p.E415K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3381					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						GTGGCATCTTCGTCATCCGTT	0.438000														68			30		0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1230951	1230951	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:1230951C>T	uc009xhq.3	-	8	2219	c.1893G>A	c.(1891-1893)ccG>ccA	p.P631P	ADARB2_uc001igj.2_Silent_p.P15P|ADARB2_uc001igl.4_5'UTR|ADARB2_uc001igm.4_Silent_p.P140P	NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	631	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)		GCGACTTCCCCGGCTGGCGCG	0.682000														39			6		0	0	1	0	0
PRNT	149830	broad.mit.edu	37	20	4713310	4713310	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:4713310G>A	uc002wlb.3	-	1		c.714C>T			PRNT_uc010zqp.2_Non-coding_Transcript|PRNT_uc010zqq.2_Non-coding_Transcript					Homo sapiens prion protein (testis specific) (PRNT), transcript variant 2, non-coding RNA.									p.L5F(2)		endometrium(2)|lung(5)	7						aagaaaacaagactatgctgc	0.488000														12			6		0	0	1	0	0
RHO	6010	broad.mit.edu	37	3	129251120	129251120	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:129251120C>T	uc003emt.3	+	2	652	c.557C>T	c.(556-558)tCg>tTg	p.S186L		NM_000539	NP_000530	P08100	OPSD_HUMAN	Homo sapiens rhodopsin (RHO), mRNA.	186			S -> P (in RP4).		protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CTGCAGTGCTCGTGTGGAATC	0.572000														62			23		0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8757480	8757480	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8757480C>T	uc001qur.2	-	3	545	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	AICDA_uc001qup.1_Missense_Mutation_p.E141K|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	156					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AAAGTTCTTTCGTGGTTTTCT	0.423000														92			45		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21755884	21755884	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:21755884G>A	uc010iuc.2	-	10	2159	c.1701C>T	c.(1699-1701)ctC>ctT	p.L567L	CDH12_uc011cno.1_Silent_p.L527L|CDH12_uc003jgk.2_Silent_p.L567L|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	567	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTACAACAGGGAGGAAATACA	0.453000										HNSCC(59;0.17)				22			33		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150440092	150440092	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150440092C>T	uc022apw.1	+	5	1617	c.1477C>T	c.(1477-1479)Cta>Tta	p.L493L	GIMAP1-GIMAP5_uc003whr.2_Silent_p.L289L	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		TTTTGTTTTTCTATTGTTGTG	0.398000														59			18		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55863771	55863771	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55863771G>A	uc003tqz.2	-	9	1251	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	378					cell cycle|cell division	septin complex	GTP binding|protein binding	p.F378F(2)|p.F167F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TAAGATGCTCGAACTTGTCCT	0.378000														33			15		0	0	1	0	0
HMGCL	3155	broad.mit.edu	37	1	24140689	24140689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24140689G>A	uc001bib.3	-	4	532	c.488C>T	c.(487-489)tCt>tTt	p.S163F	HMGCL_uc010oec.2_Intron|HMGCL_uc001bic.3_Missense_Mutation_p.S138F|HMGCL_uc009vqs.1_Intron|HMGCL_uc021oii.1_Intron	NM_000191	NP_000182	P35914	HMGCL_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMGCL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	163					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		CCCCCGCACAGAAATATTGGC	0.498000														68			29		0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34269257	34269257	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:34269257G>A	uc001wru.3	+	11	1808	c.1744G>A	c.(1744-1746)Gac>Aac	p.D582N	NPAS3_uc001wrs.3_Missense_Mutation_p.D569N|NPAS3_uc001wrv.3_Missense_Mutation_p.D552N|NPAS3_uc001wrt.3_Missense_Mutation_p.D550N	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CAGCGCCAAGGACTCGGACAG	0.672000														15			6		0	0	1	0	0
POLR3D	661	broad.mit.edu	37	8	22107731	22107731	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:22107731C>T	uc003xbl.3	+	7	1148	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	POLR3D_uc003xbm.3_Silent_p.S355S|POLR3D_uc011kze.2_Non-coding_Transcript	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	355					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CTGCCTGCTCCTTCCTGCAGG	0.562000														41			17		0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157737198	157737198	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157737198G>A	uc001fre.2	-	5	1044	c.985C>T	c.(985-987)Cca>Tca	p.P329S	FCRL2_uc001frd.2_Missense_Mutation_p.P76S|FCRL2_uc010phz.1_Missense_Mutation_p.P329S|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	329	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TACAAGATTGGGGGAGAGCCT	0.597000														89			37		0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79121182	79121182	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:79121182C>T	uc001dip.4	+	4	950	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	IFI44_uc010orr.1_Missense_Mutation_p.R276C|IFI44_uc010ors.1_5'UTR	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	Homo sapiens interferon-induced protein 44 (IFI44), mRNA.	276					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						CGGTAACATTCGTGATAGATA	0.353000														74			11		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920518	4920518	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4920518C>T	uc001qng.3	+	0	2177	c.1311C>T	c.(1309-1311)atC>atT	p.I437I	KCNA6_uc021qtr.1_Silent_p.I437I	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	437						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GGGGAAAGATCGTGGGCTCGC	0.592000										HNSCC(72;0.22)				69			25		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53233753	53233753	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53233753C>T	uc001sbc.1	-	6	1127	c.1063G>A	c.(1063-1065)Gcc>Acc	p.A355T		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	355	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GTGATGGCGGCCTGCAGGCTG	0.582000														27			14		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117221518	117221518	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:117221518C>T	uc001lcg.3	+	21	3776	c.3390C>T	c.(3388-3390)gcC>gcT	p.A1130A	ATRNL1_uc010qsm.2_Silent_p.A259A|ATRNL1_uc010qsn.2_Intron	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1130						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACCATACTGCCATAAACTTTA	0.308000														71			7		0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401213	11401213	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:11401213G>A	uc003gmq.3	-	1	740	c.417C>T	c.(415-417)tcC>tcT	p.S139S	HS3ST1_uc021xmg.1_Silent_p.S139S	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	139						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCAGCCGGATGGACGGGTTCA	0.587000														38			20		0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26672712	26672712	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26672712G>A	uc001bmd.4	-	1	587	c.437C>T	c.(436-438)cCc>cTc	p.P146L		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 3.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCCAGGCAGGGGAACCAAAAG	0.637000														51			10		0	0	1	0	0
ATL2	64225	broad.mit.edu	37	2	38525591	38525591	+	Missense_Mutation	SNP	G	A	A	rs116493165	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:38525591G>A	uc002rqq.3	-	11	1357	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	ATL2_uc010ynm.2_Missense_Mutation_p.R425C|ATL2_uc010ynn.2_Missense_Mutation_p.R425C|ATL2_uc010yno.2_Missense_Mutation_p.R272C|ATL2_uc002rqr.3_Missense_Mutation_p.R272C|ATL2_uc002rqs.3_Missense_Mutation_p.R443C	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	Homo sapiens atlastin GTPase 2 (ATL2), transcript variant 2, mRNA.	443					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TCCTGATAACGACGGCAGAAC	0.418000														217			17		0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	993927	993927	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:993927C>T	uc021qss.1	+	18	5380	c.4737C>T	c.(4735-4737)ccC>ccT	p.P1579P	WNK1_uc001qio.4_Silent_p.P1319P|WNK1_uc021qst.1_Silent_p.P1571P|WNK1_uc001qip.4_Silent_p.P1072P|WNK1_uc001qir.4_Silent_p.P492P	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1319					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAGAAGGACCCAACACAGCAC	0.483000														99			43		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173556856	173556856	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:173556856G>A	uc001giz.2	-	4	894	c.471C>T	c.(469-471)atC>atT	p.I157I	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	157					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TGCCAAGGGTGATGCTAAAGA	0.323000														81			19		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133883780	133883780	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133883780G>A	uc003ytw.3	+	3	503	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	154	Thyroglobulin type-1 2.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCGCCAGCTGGGGAGGCCAA	0.592000														20			13		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857232	9857232	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:9857232G>A	uc010uym.2	-	13	4479	c.4169C>T	c.(4168-4170)tCg>tTg	p.S1390L	GRIN2A_uc002czo.4_Missense_Mutation_p.S1390L|GRIN2A_uc010uyn.2_Missense_Mutation_p.R1119C|GRIN2A_uc002czr.4_Missense_Mutation_p.R1276C	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1390					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGATGGCAACGAGTGTTTGTA	0.552000														67			17		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10941926	10941926	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:10941926G>A	uc002yip.1	-	13	1145	c.777C>T	c.(775-777)ttC>ttT	p.F259F	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.F241F|TPTE_uc002yir.1_Silent_p.F221F|TPTE_uc010gkv.1_Silent_p.F121F	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	259	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R258Q(1)|p.R258R(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)		GATTTCTATAGAAAGACTGCC	0.313000														258			34		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7989509	7989509	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7989509C>T	uc002gjy.1	-	1	438	c.177G>A	c.(175-177)caG>caA	p.Q59Q	MIR4314_uc021tpn.1_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	59	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CACCCAGGTCCTGAGGGCACT	0.632000										Multiple Myeloma(8;0.094)				26			5		0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68244848	68244848	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:68244848G>A	uc001xka.2	-	23	4931	c.4792C>T	c.(4792-4794)Ctg>Ttg	p.L1598L	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Silent_p.L1598L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1598					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTTACTTGCAGAGCCTTGTCA	0.433000														168			10		0	0	1	0	0
GREM2	64388	broad.mit.edu	37	1	240656745	240656745	+	Silent	SNP	G	A	A	rs17857321		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240656745G>A	uc021plf.1	-	0	31	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	GREM2_uc001hys.3_Silent_p.L11L	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	Homo sapiens gremlin 2 (GREM2), mRNA.	11				L -> M (in Ref. 3; AAH46632).	BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			ACCGCCACCAGGAACAAGGAC	0.582000														15			3		0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84243513	84243513	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:84243513G>A	uc003hoj.4	-	1	331	c.232C>T	c.(232-234)Cca>Tca	p.P78S	HPSE_uc003hoi.3_Missense_Mutation_p.P78S|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_5'UTR|HPSE_uc003hok.4_Missense_Mutation_p.P78S|HPSE_uc011cct.2_Missense_Mutation_p.P78S|HPSE_uc021xpr.1_Missense_Mutation_p.P78S	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	78					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	CGAAGCTTTGGAGAACTGTTA	0.423000														21			12		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57730674	57730674	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:57730674G>A	uc010bfw.3	+	2	670	c.477G>A	c.(475-477)aaG>aaA	p.K159K	CGNL1_uc002aeg.3_Silent_p.K159K	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	159	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ACCCTGAAAAGAATGAGTTGA	0.433000														87			16		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177225145	177225145	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:177225145G>A	uc001glf.3	+	2	672	c.360G>A	c.(358-360)cgG>cgA	p.R120R	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_5'Flank	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	120						extracellular region				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						AGTTTATCCGGAACATTCGCC	0.483000											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		79			24		0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31917963	31917963	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:31917963G>A	uc021wuu.1	-	2	1170	c.499C>T	c.(499-501)Cga>Tga	p.R167*	OSBPL10_uc011axf.2_Nonsense_Mutation_p.R167*	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	167	PH.				lipid transport		lipid binding	p.L166R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GCACAAGCTCGAAGCTGAGTC	0.418000														45			21		0	0	1	0	0
CLEC10A	10462	broad.mit.edu	37	17	6979059	6979059	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:6979059C>T	uc002gek.3	-	6	969	c.666G>A	c.(664-666)agG>agA	p.R222R	CLEC10A_uc002gej.3_Silent_p.R198R|CLEC10A_uc010clv.2_Silent_p.R195R	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	Homo sapiens C-type lectin domain family 10, member A (CLEC10A), transcript variant 1, mRNA.	222	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CCTGCTCCTCCCTGGAGTTGA	0.537000														37			28		0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50660972	50660972	+	Missense_Mutation	SNP	G	A	A	rs144692967	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50660972G>A	uc003bkb.1	-	13	2832	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Missense_Mutation_p.R766W|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hat.1_5'UTR	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	774					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)		TTCTGCTCCCGACGAGCTGCC	0.567000														49			23		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7833869	7833869	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7833869G>A	uc010dvt.3	+	6	1313	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	CLEC4M_uc002mih.3_Missense_Mutation_p.E376K|CLEC4M_uc010xjw.2_Missense_Mutation_p.E332K|CLEC4M_uc010dvs.3_Missense_Mutation_p.E375K|CLEC4M_uc010xjx.2_Missense_Mutation_p.E348K|CLEC4M_uc002mhz.3_3'UTR|CLEC4M_uc002mic.3_3'UTR|CLEC4M_uc002mia.3_Missense_Mutation_p.E263K	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	399					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CTTCAGAGACGAATAGTTGTT	0.498000														64			17		0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158443811	158443811	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:158443811G>A	uc002tzk.4	-	1	435	c.192C>T	c.(190-192)gtC>gtT	p.V64V	ACVR1C_uc002tzl.4_Silent_p.V64V|ACVR1C_uc010fof.3_Silent_p.V64V|ACVR1C_uc010foe.3_Silent_p.V14V	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	64					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CTGGAAGGGAGACACAGGATT	0.423000														264			98		0	0	1	0	0
SLC31A1	1317	broad.mit.edu	37	9	116018469	116018469	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116018469C>T	uc004bgu.3	+	1	227	c.41C>T	c.(40-42)tCc>tTc	p.S14F	FKBP15_uc010muu.1_Intron|SLC31A1_uc004bgv.4_Missense_Mutation_p.S14F	NM_001859	NP_001850	O15431	COPT1_HUMAN	Homo sapiens solute carrier family 31 (copper transporters), member 1 (SLC31A1), mRNA.	14						integral to plasma membrane	copper ion transmembrane transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						TATATGGACTCCAACAGTACC	0.438000														60			20		0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109513549	109513549	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:109513549C>T	uc010fjn.3	-	11	1804	c.1257G>A	c.(1255-1257)gaG>gaA	p.E419E	EDAR_uc010yws.2_Silent_p.E419E|EDAR_uc002teq.4_Silent_p.E387E	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	387	Death.				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TGCCCCCAATCTCATCCCTCT	0.562000														44			11		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57136782	57136782	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:57136782C>T	uc002lib.3	-	3	393	c.323G>A	c.(322-324)cGa>cAa	p.R108Q		NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	108					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				ACACAGCACTCGGCCAAAGTT	0.522000														111			52		0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113638980	113638980	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:113638980C>T	uc001edf.1	+	7	1282	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	LRIG2_uc009wgn.1_Nonsense_Mutation_p.Q259*	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	362						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TTCCAATCTTCAGACATTGTA	0.323000														100			37		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41510233	41510233	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41510233G>A	uc002opr.1	+	2	373	c.366G>A	c.(364-366)aaG>aaA	p.K122K	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Silent_p.K82K	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	122					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ACCGCTGGAAGGTGCTTCGGC	0.552000														37			10		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65684548	65684548	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65684548G>A	uc002aou.1	-	10	2256	c.2046C>T	c.(2044-2046)ggC>ggT	p.G682G	IGDCC4_uc002aot.1_Silent_p.G270G	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	682	Fibronectin type-III 3.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGTCTCCACGGCCCCCTGGCA	0.647000														77			23		0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121458439	121458439	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:121458439C>T	uc001tzj.1	-	5	1476	c.1470G>A	c.(1468-1470)ggG>ggA	p.G490G	OASL_uc001tzk.1_3'UTR	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	490	Ubiquitin-like 2.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCCATAGATCCCCAGACCCA	0.517000														51			22		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94519661	94519661	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:94519661C>T	uc004arj.2	-	2	555	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	ROR2_uc004ari.1_5'UTR|ROR2_uc004ark.3_Missense_Mutation_p.R119Q	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	119	Ig-like C2-type.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GATTCGCAGTCGTGAACCATA	0.587000														136			39		0	0	1	0	0
HADHB	3032	broad.mit.edu	37	2	26486319	26486319	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:26486319C>T	uc002rgz.3	+	3	432	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	HADHB_uc010yku.1_Non-coding_Transcript|HADHB_uc010ykv.2_Missense_Mutation_p.R39C|HADHB_uc010ykw.2_Missense_Mutation_p.R61C	NM_000183	NP_000174	P55084	ECHB_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA.	61			R -> C (in TFP deficiency).|R -> H (in TFP deficiency).		fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGATGGTGTTCGCACTCCATT	0.348000														105			37		0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150647386	150647386	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150647386C>T	uc003wic.3	-	8	2669	c.2268G>A	c.(2266-2268)atG>atA	p.M756I	KCNH2_uc003wib.3_Missense_Mutation_p.M416I|KCNH2_uc011kux.2_Missense_Mutation_p.M660I|KCNH2_uc003wid.3_Missense_Mutation_p.M416I|KCNH2_uc003wie.3_Missense_Mutation_p.M756I	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	756					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TCTTGAACTTCATGGCCAGGG	0.637000														85			8		0	0	1	0	0
C20orf152	140894	broad.mit.edu	37	20	34611583	34611583	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34611583G>A	uc002xer.1	+	10	1473	c.1317G>A	c.(1315-1317)atG>atA	p.M439I	C20orf152_uc002xes.1_Intron|C20orf152_uc010gfp.1_Intron	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	443										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					TGATCCTGATGAGCCTGGGAA	0.443000														104			32		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42331169	42331169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42331169C>T	uc002xlb.1	+	7	1206	c.991C>T	c.(991-993)Cct>Tct	p.P331S	MYBL2_uc010zwj.1_Missense_Mutation_p.P307S	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	331						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P331H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ATTTGACCTCCCTGAGGAACC	0.522000														215			20		0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976805	47976806	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:47976805_47976806CC>TT	uc011dwm.2	-	1	505_506	c.471_472GG>AA	c.(469-474)gtggaa>gtAAaa	p.E158K	PTCHD4_uc011dwn.2_5'UTR|PTCHD4_uc003ozf.2_Missense_Mutation_p.E158K	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	158						integral to membrane	hedgehog receptor activity										TTTGGCACTTCCACTACCCCGC	0.480000														28			10		0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42127274	42127274	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42127274C>T	uc001zoo.4	+	2	365	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	JMJD7-PLA2G4B_uc001zom.2_Silent_p.L9L|JMJD7-PLA2G4B_uc001zon.2_Silent_p.L109L|JMJD7-PLA2G4B_uc010bcn.3_Silent_p.L109L|JMJD7-PLA2G4B_uc001zop.1_Silent_p.L9L|JMJD7-PLA2G4B_uc001zoq.4_5'Flank	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	0					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						CCGCCTGCCCCTGAGCTTCGT	0.652000														98			47		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	106993	106993	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000211.1:106993C>T	uc003boa.3	+	3		c.692C>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TGAAAGTGGTCACTCTCCTGG	0.408000														175			41		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22272156	22272156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22272156G>A	uc010ecx.3	+	3	1773	c.1604G>A	c.(1603-1605)aGa>aAa	p.R535K	ZNF257_uc010ecy.3_Missense_Mutation_p.R503K	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R535I(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTACATAAGAGAATTCATGCT	0.363000														37			23		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71740108	71740108	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:71740108C>T	uc003kce.1	-	4	1896	c.1710G>A	c.(1708-1710)agG>agA	p.R570R		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CGATTCTCCCCCTTCCCAGAC	0.597000														49			30		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168819864	168819864	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:168819864C>T	uc011bpj.1	-	10	3158	c.2755G>A	c.(2755-2757)Gag>Aag	p.E919K	MECOM_uc010hwk.1_Missense_Mutation_p.E745K|MECOM_uc003ffj.3_Missense_Mutation_p.E796K|MECOM_uc003ffi.3_Missense_Mutation_p.E731K|MECOM_uc011bpi.1_Missense_Mutation_p.E723K|MECOM_uc003ffn.3_Missense_Mutation_p.E731K|MECOM_uc003ffk.2_Missense_Mutation_p.E722K|MECOM_uc003ffl.2_Missense_Mutation_p.E882K|MECOM_uc011bpk.1_Missense_Mutation_p.E731K|MECOM_uc010hwn.2_Missense_Mutation_p.E910K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.T918A(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTATAGCGCTCCTTTCCCTTC	0.483000														43			13		0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85971439	85971439	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:85971439G>A	uc001kcv.3	+	13	1626	c.1521G>A	c.(1519-1521)gtG>gtA	p.V507V	CDHR1_uc001kcw.3_Silent_p.V507V|CDHR1_uc009xst.3_Silent_p.V211V|CDHR1_uc001kcx.3_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	507	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GGGGCGAAGTGAAATATTCCA	0.572000														145			64		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36166626	36166626	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:36166626C>T	uc003gsq.2	-	10	2421	c.2083G>A	c.(2083-2085)Gaa>Aaa	p.E695K	ARAP2_uc003gsr.1_Missense_Mutation_p.E695K	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	695	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						CTGTTGGATTCATTGAACCAA	0.433000														79			6		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160147345	160147345	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160147345T>G	uc001fve.4	+	17	3106	c.2627T>G	c.(2626-2628)tTt>tGt	p.F876C	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.F379C|ATP1A4_uc001fvh.3_Missense_Mutation_p.F12C	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	876					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.F876F(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTACCTACTTTGTAATCCTG	0.522000														87			29		0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99655718	99655719	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:99655718_99655719CC>TT	uc001kou.2	-	9	1596_1597	c.1240_1241GG>AA	c.(1240-1242)gga>AAa	p.G414K	CRTAC1_uc001kov.3_Missense_Mutation_p.G414K|CRTAC1_uc001kot.2_Missense_Mutation_p.G204K	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	414						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)		CATCCCGTCTCCGTCGAAGTCG	0.584000														68			6		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842129	5842129	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5842129G>A	uc010qzp.2	+	0	564	c.564G>A	c.(562-564)aaG>aaA	p.K188K	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTGGCCAAGGTATCCTGTG	0.478000														209			50		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587807	247587807	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247587807C>T	uc001icr.3	+	4	1200	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	NLRP3_uc001ics.3_Silent_p.A354A|NLRP3_uc001icu.3_Silent_p.A354A|NLRP3_uc001icw.3_Silent_p.A354A|NLRP3_uc001icv.3_Silent_p.A354A|NLRP3_uc010pyw.2_Silent_p.A352A|NLRP3_uc001ict.1_Silent_p.A352A	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	354	NACHT.		A -> V (in MWS).		detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.V353L(2)|p.A354D(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GACCTGTGGCCCTGGAGAAAC	0.557000														93			7		0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21239752	21239752	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:21239752C>T	uc002npj.3	+	4	819	c.638C>T	c.(637-639)tCg>tTg	p.S213L	ZNF430_uc002npk.3_Missense_Mutation_p.S212L	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TGTGACAAATCGTTTTGCATG	0.284000														27			9		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457945	45457945	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:45457945G>A	uc001rol.3	-	0		c.1250C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TCACTCTGAGGAATTTCTCTT	0.428000														93			8		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427641	119427641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:119427641G>A	uc001ehl.1	-	7	1520	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	TBX15_uc009whj.1_Missense_Mutation_p.A226V	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	508						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AAGGGAGAAGGCATTGTAGGA	0.537000														38			13		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167085308	167085308	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:167085308G>A	uc010fpl.3	-	21	4407	c.4066C>T	c.(4066-4068)Cgt>Tgt	p.R1356C	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1367						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1356H(1)|p.R1356L(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CATTCGGAACGATTTGGAACT	0.403000														205			54		0	0	1	0	0
C20orf152	140894	broad.mit.edu	37	20	34571961	34571961	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34571961C>T	uc002xer.1	+	4	621	c.465C>T	c.(463-465)ttC>ttT	p.F155F	C20orf152_uc002xes.1_Silent_p.F155F|C20orf152_uc010gfp.1_Intron	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	155										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					GCTTTTATTTCATCTACCTGG	0.522000														65			22		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458979	45458979	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:45458979C>T	uc001rol.3	-	0		c.216G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CCTTGTATTTCCCCAGCTCAT	0.433000														28			12		0	0	1	0	0
LOC283867	283867	broad.mit.edu	37	16	65345360	65345360	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:65345360G>A	uc010cdo.1	-	4		c.436C>T			LOC283867_uc010cdp.1_Intron|LOC283867_uc002eol.1_Non-coding_Transcript					Homo sapiens uncharacterized LOC283867 (LOC283867), non-coding RNA.																OV - Ovarian serous cystadenocarcinoma(108;0.17)		ATGCCTTCACGAATGTATGCC	0.468000														113			39		0	0	1	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43283595	43283595	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:43283595G>A	uc001mxe.1	-	1		c.1341C>T								Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA.																		TTTTTAAACAGAAGCAAATGT	0.388000														1			4		0	0	1	0	0
CSNK1E	1454	broad.mit.edu	37	22	38690525	38690525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38690525G>A	uc003avj.3	-	7	1162	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	CSNK1E_uc003avk.3_Missense_Mutation_p.P301S|CSNK1E_uc003avm.2_Missense_Mutation_p.P301S	NM_152221	NP_689407	P49674	KC1E_HUMAN	Homo sapiens casein kinase 1, epsilon (CSNK1E), transcript variant 1, mRNA.	301					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					ACATCCTCGGGATTCCGGGCT	0.692000														8			5		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450550	107450550	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:107450550C>T	uc002tdq.3	-	2	1115	c.996G>A	c.(994-996)gaG>gaA	p.E332E	ST6GAL2_uc002tdr.3_Silent_p.E332E|ST6GAL2_uc002tds.3_Silent_p.E332E	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	332					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CAACATCTTTCTCATAACCAC	0.388000														105			35		0	0	1	0	0
MEF2B	100271849	broad.mit.edu	37	19	19257422	19257422	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19257422G>A	uc002nlp.2	-	8	1438	c.711C>T	c.(709-711)tcC>tcT	p.S237S	MEF2B_uc002nll.2_Silent_p.S237S|MEF2B_uc010xqo.1_Silent_p.S237S|MEF2B_uc010xqp.1_Silent_p.S237S|MEF2B_uc002nlo.2_Silent_p.S237S|MEF2B_uc002nlk.2_Silent_p.S240S	NM_005919	NP_005910			Homo sapiens MEF2BNB-MEF2B readthrough (MEF2BNB-MEF2B), transcript variant 1, mRNA.											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GAGTTGCAGTGGAGCAGGGGT	0.672000														18			7		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87487804	87487804	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:87487804C>T	uc001kdl.1	-	9	1442	c.1341G>A	c.(1339-1341)gaG>gaA	p.E447E	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Silent_p.E18E	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	447						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCACGAAAGGCTCTTCCTGAG	0.448000										Multiple Myeloma(13;0.14)				108			46		0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087283	49087283	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49087283G>A	uc001rsd.4	-	8	2037	c.1714C>T	c.(1714-1716)Cgt>Tgt	p.R572C	CCNT1_uc009zkz.2_Missense_Mutation_p.R287C|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	572	Ser-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CCCCTTTTACGAGTAGAACTG	0.443000														121			46		0	0	1	0	0
SCAMP3	10067	broad.mit.edu	37	1	155227153	155227153	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155227153G>A	uc001fjs.3	-	6	936	c.702C>T	c.(700-702)ttC>ttT	p.F234F	FAM189B_uc001fjm.3_5'Flank|FAM189B_uc001fjn.3_5'Flank|FAM189B_uc001fjo.3_5'Flank|FAM189B_uc001fjp.3_5'Flank|FAM189B_uc001fjq.1_5'Flank|SCAMP3_uc001fjt.3_Silent_p.F208F	NM_005698	NP_005689	O14828	SCAM3_HUMAN	Homo sapiens secretory carrier membrane protein 3 (SCAMP3), transcript variant 1, mRNA.	234					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGAAGAAAACGAAGAAATTGA	0.488000														22			6		0	0	1	0	0
DIRC2	84925	broad.mit.edu	37	3	122598136	122598136	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122598136C>T	uc003efw.4	+	8	1487	c.1348C>T	c.(1348-1350)Ccc>Tcc	p.P450S	DIRC2_uc010hrl.3_Non-coding_Transcript|DIRC2_uc010hrm.3_Missense_Mutation_p.P288S|BC042374_uc003efx.1_Non-coding_Transcript	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	Homo sapiens disrupted in renal carcinoma 2 (DIRC2), mRNA.	450					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		CTGGTGCCTTCCCGGGTCGTG	0.458000														268			136		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50264894	50264894	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:50264894C>T	uc001zxu.3	-	12	1270	c.1128G>A	c.(1126-1128)acG>acA	p.T376T	ATP8B4_uc010ber.3_Silent_p.T249T|ATP8B4_uc010ufd.2_Silent_p.T249T|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	376					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			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGAGCGTGGTCGTTCGAGCCA	0.418000														44			16		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429431	48429431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48429431G>A	uc001jfb.3	-	1	883	c.455C>T	c.(454-456)cCg>cTg	p.P152L	GDF10_uc009xnp.3_Missense_Mutation_p.P151L|GDF10_uc009xnq.2_Missense_Mutation_p.P152L	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	152					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CTTGGCCCGCGGCTTGCATAG	0.652000														17			3		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508103	37508103	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:37508103G>A	uc021ppc.1	+	33	3394	c.3295G>A	c.(3295-3297)Gaa>Aaa	p.E1099K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E1099K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1155						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E1098K(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACTGAAAGAGGAATCATTAAC	0.338000														167			69		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701424	56701424	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56701424G>A	uc010ygh.2	-	3	1260	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	420					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACTCGTGGGCGAACCGCTTTT	0.567000														55			20		0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92347740	92347740	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:92347740C>T	uc010aue.3	-	9	1481	c.1008G>A	c.(1006-1008)agG>agA	p.R336R	FBLN5_uc010aud.3_Silent_p.R300R|FBLN5_uc001xzx.4_Silent_p.R295R	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	295					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				ACGTGTGGTTCCTGTGCTCAC	0.557000														72			29		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468954	56468954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:56468954C>T	uc021wzo.1	-	0	222	c.82G>A	c.(82-84)Ggc>Agc	p.G28S	ERC2_uc003dhr.1_Missense_Mutation_p.G28S	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	28						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTTCGGTGGCCCAAACGAGGA	0.498000														57			20		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003723	122003723	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122003723C>T	uc003eew.4	+	6	3390	c.2952C>T	c.(2950-2952)acC>acT	p.T984T	CASR_uc003eev.4_Silent_p.T974T	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	974					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)	GCACGGTCACCTTCTCACTGA	0.577000														45			15		0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59272864	59272864	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:59272864G>A	uc001sqr.3	-	13	2071	c.1825C>T	c.(1825-1827)Ccc>Tcc	p.P609S	LRIG3_uc009zqh.3_Missense_Mutation_p.P549S|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	609	Ig-like C2-type 2.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AGATCCATGGGGGTCTTGGTG	0.527000			T	ROS1	NSCLC									30			19		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14841576	14841576	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14841576G>A	uc003zlm.3	-	10	2566	c.1750C>T	c.(1750-1752)Cat>Tat	p.H584Y	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	584					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGAAGCCATGGACAGGATAG	0.368000														94			51		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36755299	36755299	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:36755299C>T	uc001cae.4	+	4	1903	c.1679C>T	c.(1678-1680)tCc>tTc	p.S560F	THRAP3_uc001caf.4_Missense_Mutation_p.S560F|THRAP3_uc001cag.1_Missense_Mutation_p.S560F	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	560					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGAAAGTCTTCCTTTTCCATT	0.502000			T	USP6	aneurysmal bone cysts									100			28		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45556204	45556204	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:45556204G>A	uc010dnv.3	-	3	1789	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	ZBTB7C_uc002ldb.3_Silent_p.F429F|ZBTB7C_uc010dnu.3_Silent_p.F438F|ZBTB7C_uc010dnw.3_Silent_p.F429F	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	429						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGTTGTGCACGAACTTGGCGT	0.592000														51			6		0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53515095	53515095	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53515095G>A	uc001sbv.3	+	11	1234	c.1146G>A	c.(1144-1146)tgG>tgA	p.W382*	SOAT2_uc009zms.3_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	382					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						AGGACTGGTGGAACTCAACGT	0.592000														46			23		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24170931	24170931	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24170931C>T	uc003xdy.3	+	5	497	c.414C>T	c.(412-414)taC>taT	p.Y138Y	ADAM28_uc003xdx.3_Silent_p.Y138Y|ADAM28_uc011kzz.2_Intron|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	138					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATCAAAGATACTTTATTGAAC	0.403000														58			13		0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71571673	71571673	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71571673G>A	uc021tkt.1	+	0	1093	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	CHST4_uc002fan.3_Missense_Mutation_p.E365K|CHST4_uc002fao.3_Missense_Mutation_p.E365K	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	365					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CGTCAGATCTGAACAAGAACA	0.522000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		71			28		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612497	96612497	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96612497G>A	uc010qnz.2	+	8	1299	c.1299G>A	c.(1297-1299)cgG>cgA	p.R433R	CYP2C19_uc010qny.2_Silent_p.R411R	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	433			R -> W (in allele CYP2C19*5A and allele CYP2C19*5B; loss of activity; dbSNP:rs56337013).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.R433W(1)|p.R433Q(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CAGGAAAACGGATTTGTGTGG	0.433000														94			32		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34166234	34166234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34166234C>T	uc001bxm.1	-	22	3793	c.3616G>A	c.(3616-3618)Gtt>Att	p.V1206I	CSMD2_uc001bxn.1_Missense_Mutation_p.V1166I|CSMD2_uc001bxo.1_Missense_Mutation_p.V79I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1166	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGCTAAAAACTCCCAGCAAA	0.498000														95			45		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329710	152329710	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152329710G>A	uc001ezw.4	-	2	625	c.552C>T	c.(550-552)tcC>tcT	p.S184S	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	184	Ser-rich.						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)			GACCACAGCTGGACCTGTGGT	0.468000														154			68		0	0	1	0	0
TRIB3	57761	broad.mit.edu	37	20	377122	377122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:377122C>T	uc002wdn.3	+	4	1263	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	TRIB3_uc002wdm.3_Missense_Mutation_p.R289C	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	Homo sapiens tribbles homolog 3 (Drosophila) (TRIB3), mRNA.	289	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of MAP kinase activity|regulation of glucose transport|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GGCCCCTGCCCGCTGTCTGGT	0.692000														85			36		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345124	20345124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20345124C>T	uc001vwh.1	+	0	698	c.698C>T	c.(697-699)tCa>tTa	p.S233L		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G232R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCAGAGGATCATCTAAGGCC	0.388000														141			54		0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71269569	71269569	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:71269569C>T	uc003pfj.3	+	19	4626	c.4493C>T	c.(4492-4494)tCg>tTg	p.S1498L	FAM135A_uc003pfi.3_Missense_Mutation_p.S1302L|FAM135A_uc003pfh.3_Missense_Mutation_p.S1285L|FAM135A_uc003pfl.3_Missense_Mutation_p.S1165L|FAM135A_uc003pfn.3_Missense_Mutation_p.S704L|FAM135A_uc010kan.2_Missense_Mutation_p.S240L|FAM135A_uc003pfp.3_Missense_Mutation_p.S62L	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	1498										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GTTCTTGATTCGGAAATATTT	0.373000														22			20		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20506951	20506951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:20506951G>A	uc002wrz.3	-	27	3781	c.3638C>T	c.(3637-3639)tCc>tTc	p.S1213F	RALGAPA2_uc002wry.3_Missense_Mutation_p.S828F|RALGAPA2_uc010zsg.2_Missense_Mutation_p.S661F|RALGAPA2_uc002wsa.1_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1213					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTCCCAGTAGGAAACCAGCAA	0.408000														36			4		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40208396	40208396	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:40208396G>A	uc003cka.3	+	5	745	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.E204K|MYRIP_uc010hhw.3_Missense_Mutation_p.E115K|MYRIP_uc011ayz.2_Missense_Mutation_p.E17K	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	204	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GGCCATTGAGGAAGCAATTTC	0.552000														70			27		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33505192	33505192	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:33505192G>A	uc021vft.1	+	18	3102	c.3079G>A	c.(3079-3081)Gaa>Aaa	p.E1027K	LTBP1_uc002rou.3_Missense_Mutation_p.E701K|LTBP1_uc002rov.3_Missense_Mutation_p.E648K|LTBP1_uc010ymz.2_Missense_Mutation_p.E701K|LTBP1_uc010yna.2_Missense_Mutation_p.E648K	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1027	EGF-like 7; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCCCTGCACAGAAGGATTCCG	0.423000														82			15		0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101865230	101865230	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:101865230G>A	uc002bxa.2	-	17	2513	c.2199C>T	c.(2197-2199)ccC>ccT	p.P733P	PCSK6_uc010bpd.3_Silent_p.P530P|PCSK6_uc002bwy.3_Silent_p.P733P|PCSK6_uc010bpe.3_Silent_p.P717P|PCSK6_uc002bxb.2_Silent_p.P720P	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	734	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGTAGCCCAAGGGGCACACAC	0.637000														38			5		0	0	1	0	0
RTBDN	83546	broad.mit.edu	37	19	12939536	12939536	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12939536G>A	uc002mvj.3	-	4	714	c.396C>T	c.(394-396)cgC>cgT	p.R132R	RTBDN_uc002mvh.1_Silent_p.R132R|RTBDN_uc002mvi.3_Silent_p.R100R|RTBDN_uc021upo.1_Silent_p.R110R	NM_031429	NP_001074466	Q9BSG5	RTBDN_HUMAN	Homo sapiens retbindin (RTBDN), transcript variant 2, mRNA.	100						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						GCAGGCGGAAGCGACTGCGAA	0.652000														88			15		0	0	1	0	0
FAM3D	131177	broad.mit.edu	37	3	58639509	58639509	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58639509C>T	uc003dkq.3	-	3	311	c.14_splice	c.e3-1	p.G5_splice		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	Homo sapiens family with sequence similarity 3, member D (FAM3D), mRNA.	5					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CGAAGCACACCTGCTGAGCAA	0.532000														71			8		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104213	53104213	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:53104213C>T	uc003tpz.3	+	0	865	c.849C>T	c.(847-849)ttC>ttT	p.F283F		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	283								p.F283L(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGTCTCCTTCGCCCTCGAGG	0.617000														66			25		0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891498	5891498	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:5891498C>T	uc002kmx.1	-	0	606	c.565G>A	c.(565-567)Gag>Aag	p.E189K		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	189						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TCCCGGTTCTCGTGGAGGACC	0.602000														14			7		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825276	4825276	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4825276G>A	uc021qcs.1	-	0	335	c.335C>T	c.(334-336)tCt>tTt	p.S112F		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGACTCCACAGAAGAAAAGGC	0.522000														98			27		0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72360605	72360605	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72360605G>A	uc009xqg.3	-	1	215	c.54C>T	c.(52-54)ccC>ccT	p.P18P	PRF1_uc001jrf.4_Silent_p.P18P	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	18					apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGGCAGGGACGGGCAGGGGCA	0.677000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					18			5		0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104370702	104370702	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:104370702C>T	uc001tkg.3	+	1	253	c.30C>T	c.(28-30)tcC>tcT	p.S10S	TDG_uc010swh.1_Silent_p.S10S|TDG_uc009zuk.3_Silent_p.S6S|TDG_uc010swi.2_Intron|TDG_uc010swj.2_5'Flank	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	10					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TCAGCTATTCCCTTCAGCAAG	0.353000								Base excision repair (BER), DNA glycosylases						40			15		0	0	1	0	0
ALG1	56052	broad.mit.edu	37	16	5125427	5125427	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:5125427C>T	uc002cym.3	+	3	470	c.429C>T	c.(427-429)ttC>ttT	p.F143F	ALG1_uc002cyj.3_Silent_p.F32F|ALG1_uc010bue.3_Silent_p.F32F	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	Homo sapiens asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) (ALG1), mRNA.	143					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TCTGCTGGTTCGTGGGCTGCC	0.542000														130			46		0	0	1	0	0
IFI27L2	83982	broad.mit.edu	37	14	94594942	94594942	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94594942G>A	uc001ycq.3	-	2	164	c.108C>T	c.(106-108)tcC>tcT	p.S36S		NM_032036	NP_114425	Q9H2X8	I27L2_HUMAN	Homo sapiens interferon, alpha-inducible protein 27-like 2 (IFI27L2), mRNA.	36						integral to membrane		p.S36S(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	8						CTGCTATGGAGGACGCGGCGA	0.637000														51			4		0	0	1	0	0
PRKY	5616	broad.mit.edu	37	Y	7239831	7239831	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrY:7239831C>T	uc004fre.3	+	6		c.1282C>T								Homo sapiens protein kinase, Y-linked, pseudogene (PRKY), non-coding RNA.											large_intestine(2)|lung(3)|skin(1)	6						CTTCCAACTTCGAAACTTACC	0.527000														8			14		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51975321	51975321	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51975321G>A	uc002abh.3	+	3	584	c.181_splice	c.e3+1	p.E61_splice	SCG3_uc010ufz.2_Splice_Site	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	61					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ATATCCTCCAGGTAAAAAGAA	0.348000														118			56		0	0	1	0	0
CYYR1	116159	broad.mit.edu	37	21	27938585	27938585	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:27938585G>A	uc002yme.3	-	2	498	c.176_splice	c.e2+1	p.S59_splice	CYYR1_uc002ymd.3_Splice_Site_p.S59_splice|CYYR1_uc011ack.2_Splice_Site	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	59						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GAATACTCACGAGAGGATATT	0.433000														32			10		0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778532	31778532	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31778532C>T	uc003nxh.3	-	1	1401	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	HSPA1L_uc010jte.3_Silent_p.E406E|HSPA1L_uc021yuz.1_Silent_p.E406E	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	406					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CCCCAGCCGTCTCCAGCCCCA	0.607000														108			22		0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	63847976	63847976	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:63847976C>T	uc002jfl.3	-	20	2559	c.2340G>A	c.(2338-2340)atG>atA	p.M780I	CEP112_uc010deo.3_Missense_Mutation_p.M522I|CEP112_uc002jfm.3_Missense_Mutation_p.M780I|CEP112_uc010dep.2_Missense_Mutation_p.M738I	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.	780						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GCTCTATTTTCATCTTTTCTG	0.388000														167			73		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101720309	101720309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:101720309G>A	uc001vox.1	-	38	4596	c.4407C>T	c.(4405-4407)caC>caT	p.H1469H		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1469						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTATTTGAAAGTGGCGAAGAT	0.363000														53			17		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51171299	51171299	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:51171299G>A	uc021tif.1	-	2	3730	c.3408C>T	c.(3406-3408)ttC>ttT	p.F1136F	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Silent_p.F85F	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1233					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACTGATTCCAGAAGCTGGAAG	0.542000														36			15		0	0	1	0	0
RPL23P8	222901	broad.mit.edu	37	7	20867367	20867367	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:20867367G>A	uc011jyj.1	+	0		c.451G>A								Homo sapiens ribosomal protein L23 pseudogene 8 (RPL23P8), non-coding RNA.																		AGCATTGCGTGATTCTCCAGT	0.388000														46			19		0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965719	22965719	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22965719C>T	uc001bfy.3	+	2	642	c.557C>T	c.(556-558)tCc>tTc	p.S186F		NM_015991	NP_057075	P02745	C1QA_HUMAN	Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	186	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		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;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	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)	GTCCGACGCTCCCTGGGCTTC	0.592000														63			14		0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74595936	74595936	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74595936G>A	uc002skx.3	-	15	2091	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F	DCTN1_uc002skv.3_Silent_p.F457F|DCTN1_uc002sku.3_Silent_p.F457F|DCTN1_uc002skw.2_Silent_p.F584F|DCTN1_uc010ffd.3_Silent_p.F571F|DCTN1_uc002sky.3_Silent_p.F554F	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	591					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TGTCAGGCATGAAGGCTGTCA	0.547000														78			26		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119961497	119961497	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:119961497G>A	uc001txe.3	+	11	1569	c.1104_splice	c.e11-1	p.N368_splice	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	368										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TGTGTCCACAGCCGCACTAAT	0.567000														50			5		0	0	1	0	0
MRPL38	64978	broad.mit.edu	37	17	73900778	73900778	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73900778G>A	uc010wso.1	-	1	315	c.90C>T	c.(88-90)ccC>ccT	p.P30P	FBF1_uc002jqa.1_Non-coding_Transcript|MRPL38_uc002jpz.1_Non-coding_Transcript	NM_032478	NP_115867	Q96DV4	RM38_HUMAN	Homo sapiens mitochondrial ribosomal protein L38 (MRPL38), nuclear gene encoding mitochondrial protein, mRNA.	30						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCCCAGCGGGGGTGTCCGGC	0.721000														11			5		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84438821	84438821	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84438821G>A	uc010chj.3	+	2	387	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ATP2C2_uc002fhx.3_Missense_Mutation_p.E100K|ATP2C2_uc002fhy.3_Missense_Mutation_p.E117K|ATP2C2_uc002fhz.3_5'Flank	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	100					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TGACAACAGCGAACCTGTGTG	0.547000														42			5		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449568	85449568	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:85449568G>A	uc001tac.3	+	7	1108	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	LRRIQ1_uc021rbo.1_Missense_Mutation_p.E211K|LRRIQ1_uc001taa.1_Missense_Mutation_p.E308K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	333	Glu-rich.							p.E333*(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		acaaaaggaggaagaaaatcg	0.333000														13			12		0	0	1	0	0
MICU1	10367	broad.mit.edu	37	10	74167714	74167714	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:74167714G>A	uc001jtb.2	-	9	1336	c.1153C>T	c.(1153-1155)Cat>Tat	p.H385Y	MIR1256_uc021pth.1_Intron|MICU1_uc010qjx.2_Missense_Mutation_p.H187Y|MICU1_uc010qjw.2_Missense_Mutation_p.H187Y|MICU1_uc009xqo.2_Non-coding_Transcript	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN	Homo sapiens mitochondrial calcium uptake 1 (MICU1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	385					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										CCAGCCATATGGTAAAAACTC	0.403000														41			12		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156917205	156917205	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156917205G>A	uc001fqo.3	-	24	3299	c.2259C>T	c.(2257-2259)ctC>ctT	p.L753L	ARHGEF11_uc010phu.2_Silent_p.L169L|ARHGEF11_uc001fqn.3_Silent_p.L793L	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	753	DH.				G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAGGACCCGGAGTGTGCGCA	0.562000														26			15		0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70420231	70420231	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70420231G>A	uc001xlt.2	+	2	642	c.360G>A	c.(358-360)gaG>gaA	p.E120E	SMOC1_uc001xls.2_Silent_p.E120E	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	120	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AGTGTGGCGAGGATGGCTCCT	0.617000														82			11		0	0	1	0	0
DL492607	0	broad.mit.edu	37	11	113661535	113661535	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113661535C>T	uc001pof.1	+	0		c.1583C>T								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		CTTCCCCTTTCCCCAGGGGTC	0.542000														118			10		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170805230	170805230	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:170805230G>A	uc003fhh.2	-	23	3132	c.2787C>T	c.(2785-2787)ctC>ctT	p.L929L	TNIK_uc003fhi.2_Silent_p.L874L|TNIK_uc003fhj.2_Silent_p.L900L|TNIK_uc003fhk.2_Silent_p.L921L|TNIK_uc003fhl.2_Silent_p.L845L|TNIK_uc003fhm.2_Silent_p.L866L|TNIK_uc003fhn.2_Silent_p.L892L|TNIK_uc003fho.2_Silent_p.L837L|TNIK_uc003fhg.2_Silent_p.L107L	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	929	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCAGGTCAGGGAGGTTGATGT	0.592000														83			26		0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825409	64825409	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64825409C>T	uc001ocn.3	-	2	434	c.418G>A	c.(418-420)Gag>Aag	p.E140K	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	140					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.G139V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CCCCCTTGCTCCCCGGTCACG	0.647000														83			37		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832027	61832027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61832027G>A	uc001jky.3	-	36	8950	c.8612C>T	c.(8611-8613)tCg>tTg	p.S2871L	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.	2871					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.S2871L(2)		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						AAGTACATGCGAAAGTTTTTC	0.398000														88			34		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17190305	17190305	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17190305A>G	uc001mmq.4	-	0	1049	c.984T>C	c.(982-984)ctT>ctC	p.L328L	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Silent_p.L328L|PIK3C2A_uc009ygv.1_Silent_p.L328L	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	328					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TTGCCACAGAAAGGGATTTTC	0.398000														163			32		0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	36983516	36983516	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:36983516G>A	uc003aps.2	-	1	360	c.291C>T	c.(289-291)ttC>ttT	p.F97F		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	97					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						ACTCACGGAGGAAATATTCTG	0.512000														94			41		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349971	100349971	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100349971C>T	uc003uwj.3	+	13	2408	c.2243C>T	c.(2242-2244)cCc>cTc	p.P748L	ZAN_uc003uwk.3_Missense_Mutation_p.P748L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	748	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCACCATCCCCACAGAAAAA	0.522000														61			28		0	0	1	0	0
RPL13AP20	387841	broad.mit.edu	37	12	13028629	13028629	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:13028629C>T	uc010sho.2	+	0	219	c.197C>T	c.(196-198)cCt>cTt	p.P66L						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		AACAGCAACCCTTCCCGAGGC	0.582000														19			14		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142176561	142176561	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:142176561G>A	uc003eux.4	-	44	7662	c.7540C>T	c.(7540-7542)Cgc>Tgc	p.R2514C	ATR_uc003euy.1_Missense_Mutation_p.R400C	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2514	PI3K/PI4K.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGAGTCAGGCGAAATGGCACA	0.368000								Other conserved DNA damage response genes						63			28		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104440363	104440363	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:104440363G>A	uc004elz.1	+	2	1045	c.289G>A	c.(289-291)Gag>Aag	p.E97K		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	97	Ig-like C2-type 1.				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						GATGAGCAAAGAGGAAGATTC	0.448000														24			35		0	0	1	0	0
MPZ	4359	broad.mit.edu	37	1	161276165	161276165	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161276165G>A	uc001gaf.4	-	3	605	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W		NM_000530	NP_000521	P25189	MYP0_HUMAN	Homo sapiens myelin protein zero (MPZ), mRNA.	180					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAGCAGTACCGAACCACGTAG	0.647000														85			42		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666689	167666689	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167666689G>A	uc001gem.3	+	5	1015	c.828G>A	c.(826-828)ccG>ccA	p.P276P	RCSD1_uc010pli.2_Silent_p.P246P	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	276	RCSD.							p.P276L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GCCAGCACCCGGCCCAAGAGG	0.632000														13			5		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219875364	219875364	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219875364G>A	uc002vjl.1	-	25	4296	c.4212C>T	c.(4210-4212)ggC>ggT	p.G1404G		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1404						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGGTTGTAGCCCACTCCCT	0.592000														14			7		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28465784	28465784	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:28465784G>A	uc001zbj.3	-	36	5765	c.5659C>T	c.(5659-5661)Cct>Tct	p.P1887S		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1887	MIB/HERC2.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTGGAGGAGGCCCATCCTGA	0.582000														90			34		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42225911	42225911	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:42225911G>A	uc003ose.2	-	9	2921	c.2358C>T	c.(2356-2358)gtC>gtT	p.V786V	TRERF1_uc011duq.1_Silent_p.V683V|TRERF1_uc003osb.2_Silent_p.V522V|TRERF1_uc003osc.2_Silent_p.V522V|TRERF1_uc003osd.2_Silent_p.V766V	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	766	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCCTGGGGTGACCGTCACGT	0.433000														35			15		0	0	1	0	0
KLK12	43849	broad.mit.edu	37	19	51534092	51534092	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51534092C>T	uc002pvh.1	-	4	660	c.543G>A	c.(541-543)acG>acA	p.T181T	KLK11_uc002pvb.2_5'Flank|KLK11_uc002pvf.1_5'Flank|KLK12_uc002pvg.1_Silent_p.T181T|KLK12_uc010ycp.1_Non-coding_Transcript|KLK12_uc010ycq.1_Silent_p.T71T|KLK12_uc010ycr.1_Silent_p.T71T|KLK12_uc010ycs.1_Missense_Mutation_p.E95K|KLK12_uc002pvi.1_Silent_p.T181T|KLK12_uc002pvj.1_Missense_Mutation_p.E95K	NM_019598	NP_062544	Q9UKR0	KLK12_HUMAN	Homo sapiens kallikrein-related peptidase 12 (KLK12), transcript variant 1, mRNA.	181	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)		CCATGTTGCTCGTGATTCTCC	0.617000														123			59		0	0	1	0	0
CA9	768	broad.mit.edu	37	9	35679199	35679199	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35679199C>T	uc003zxo.4	+	6	967	c.925C>T	c.(925-927)Cca>Tca	p.P309S		NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	309	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACTCAGGTCCCAGGACTGGA	0.537000														258			24		0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8947545	8947545	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:8947545C>T	uc001mhb.4	-	4	793	c.669G>A	c.(667-669)gaG>gaA	p.E223E	C11orf16_uc001mhc.4_Silent_p.E223E	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA.	223								p.E223V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TGTGCAGCCTCTCCACAGCCT	0.557000														100			32		0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11448054	11448054	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11448054G>A	uc002mqx.3	-	1	283	c.22C>T	c.(22-24)Cag>Tag	p.Q8*		NM_004283	NP_004274	O95716	RAB3D_HUMAN	Homo sapiens RAB3D, member RAS oncogene family (RAB3D), mRNA.	8					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GGGCCTGCCTGGGTGTCTCCA	0.557000														104			39		0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153430313	153430313	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153430313C>T	uc001fbv.1	-	2	346	c.275G>A	c.(274-276)gGa>gAa	p.G92E		NM_002963	NP_002954	P31151	S10A7_HUMAN	Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.	92					angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCGCTGCTCCATGGCTCTG	0.517000														86			33		0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47222299	47222299	+	Silent	SNP	C	T	T	rs151317740	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:47222299C>T	uc010fbb.3	+	7	1394	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	TTC7A_uc002rvm.3_Silent_p.I308I|TTC7A_uc002rvn.1_Silent_p.I223I|TTC7A_uc002rvo.3_Silent_p.I342I|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Silent_p.I223I|TTC7A_uc002rvq.3_Silent_p.I82I|TTC7A_uc002rvr.3_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	342							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AGGACAACATCGAGGAAGCCC	0.597000														35			15		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566490	55566490	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:55566490C>T	uc010qhq.2	-	34	5287	c.4892G>A	c.(4891-4893)aGg>aAg	p.R1631K	PCDH15_uc010qhr.2_Missense_Mutation_p.R1626K	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, mRNA.	0					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	p.A1631V(1)		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)				GCTTTTCAGCCTGTTCCTTAG	0.448000										HNSCC(58;0.16)				225			97		0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	14	36840769	36840769	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:36840769G>A	uc001wtp.3	+	0	400	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	51			E -> Q (in dbSNP:rs2024320).			cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CGCTAGTAGCGAATCTGTTTC	0.502000														26			14		0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869243	174869243	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:174869243G>A	uc003mcz.3	-	1	1805	c.860C>T	c.(859-861)cCt>cTt	p.P287L	DRD1_uc021yia.1_Missense_Mutation_p.P287L	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	287					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GATGAAGAAAGGTAGCCAACA	0.463000														34			14		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8200926	8200927	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8200926_8200927GG>AA	uc002mjf.3	-	11	1526_1527	c.1509_1510CC>TT	c.(1507-1512)ggccgc>ggTTgc	p.R504C		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	504	EGF-like 5; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.R504L(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTGACACAGCGGCCCAGGTGAC	0.634000														25			7		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502394	90502394	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90502394G>A	uc004app.4	+	3	3027	c.2992G>A	c.(2992-2994)Gag>Aag	p.E998K		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	998						integral to membrane											GGCTGGGAACGAGGCATGGCT	0.582000														52			10		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47401285	47401285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47401285G>A	uc001cqp.4	-	4	596	c.545C>T	c.(544-546)cCt>cTt	p.P182L	CYP4A11_uc001cqq.2_Missense_Mutation_p.P182L|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	182					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GACCTCCAGAGGGGAATCCTG	0.542000														59			12		0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862608	25862608	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:25862608C>T	uc003nfk.4	-	2	266	c.156G>A	c.(154-156)acG>acA	p.T52T	SLC17A3_uc003nfi.4_Silent_p.T52T|SLC17A3_uc011djz.1_Silent_p.T52T|SLC17A3_uc011dka.1_Silent_p.T52T	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	52					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TTTGTGCTATCGTTGTGAAAT	0.413000														119			28		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52596062	52596062	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:52596062G>A	uc001jjj.3	-	5	564	c.376C>T	c.(376-378)Ctc>Ttc	p.L126F	A1CF_uc010qho.2_Missense_Mutation_p.L134F|A1CF_uc010qhn.2_Missense_Mutation_p.L134F|A1CF_uc009xov.3_Missense_Mutation_p.L126F|A1CF_uc001jji.3_Missense_Mutation_p.L126F|A1CF_uc001jjh.3_Missense_Mutation_p.L134F	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	126	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ACCCCTAAGAGGCGCCCATTT	0.438000														53			27		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13414699	13414699	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:13414699C>T	uc002mwy.3	-	16	2223	c.1987_splice	c.e16-1	p.I663_splice	CACNA1A_uc010dzc.2_Splice_Site_p.I189_splice|CACNA1A_uc010xnd.2_Splice_Site_p.I663_splice|CACNA1A_uc021ups.1_Splice_Site_p.I663_splice|CACNA1A_uc010xne.2_Splice_Site_p.I663_splice|CACNA1A_uc010dze.2_Splice_Site_p.I663_splice|CACNA1A_uc021upt.1_Splice_Site_p.I664_splice	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	664					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCGTCAGGATCTGAAAGGGGA	0.607000														98			20		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41711060	41711060	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41711060C>T	uc002yyq.1	-	6	1945	c.1493G>A	c.(1492-1494)cGa>cAa	p.R498Q	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	498	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TACGTTTATTCGAGCCTGGTA	0.522000														60			17		0	0	1	0	0
NDUFC2-KCTD14	100532726	broad.mit.edu	37	11	77784157	77784157	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:77784157G>A	uc021qnr.1	-	1	672	c.197C>T	c.(196-198)gCc>gTc	p.A66V	NDUFC2-KCTD14_uc021qns.1_Missense_Mutation_p.A66V|NDUFC2-KCTD14_uc021qnt.1_Intron|NDUFC2-KCTD14_uc009yuw.3_Missense_Mutation_p.A66V|NDUFC2-KCTD14_uc021qnv.1_Missense_Mutation_p.A66V|NDUFC2-KCTD14_uc021qnw.1_Intron	NM_001203260	NP_001190189	E9PQ53	E9PQ53_HUMAN	Homo sapiens NDUFC2-KCTD14 readthrough (NDUFC2-KCTD14), transcript variant 1, mRNA.	66					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial inner membrane|respiratory chain	NADH dehydrogenase (ubiquinone) activity										AAAAAAAAAGGCCGTAATATA	0.353000														101			31		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594905	179594905	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179594905G>A	uc021vsy.1	-	58	14715	c.14490C>T	c.(14488-14490)gcC>gcT	p.A4830A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.A1491A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5757	Ig-like 28.						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)			CGGTAGCTTTGGCTGCAAAGA	0.448000														41			5		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43056984	43056984	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43056984G>A	uc002xma.3	+	8	1228	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	HNF4A_uc002xlu.3_Missense_Mutation_p.S358N|HNF4A_uc002xlv.3_Missense_Mutation_p.S358N|HNF4A_uc010ggq.3_Missense_Mutation_p.S373N|HNF4A_uc002xlz.3_Missense_Mutation_p.S380N	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	380					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGGTCCCCCAGCGATGCACCC	0.597000														74			23		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899267	112899267	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:112899267C>T	uc004bei.2	+	8	2331	c.2139C>T	c.(2137-2139)atC>atT	p.I713I	PALM2-AKAP2_uc004bej.4_Silent_p.I481I|PALM2-AKAP2_uc004bek.4_Silent_p.I481I|PALM2-AKAP2_uc004bel.1_Silent_p.I291I|PALM2-AKAP2_uc011lwi.2_Silent_p.I339I|PALM2-AKAP2_uc004bem.3_Silent_p.I339I|PALM2-AKAP2_uc010mtw.1_Silent_p.I299I|PALM2-AKAP2_uc011lwj.2_Silent_p.I250I|PALM2-AKAP2_uc004ben.3_Silent_p.I250I	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	250							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AAAAAACCATCGAGGAGCAGC	0.537000														40			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237983	140237983	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140237983G>A	uc003lhx.2	+	0	2350	c.2350G>A	c.(2350-2352)Ggg>Agg	p.G784R	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.G784R	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	834					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)			AGATGTGGACGGGGAAGATCA	0.522000														1			2		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93170762	93170762	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:93170762G>A	uc001pdq.3	+	13	1792	c.1692G>A	c.(1690-1692)ctG>ctA	p.L564L		NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	564										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				ATTTCCTTCTGGAAGAAGAGA	0.378000														42			20		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51376660	51376660	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:51376660G>A	uc001wyu.3	-	16	2257	c.2130C>T	c.(2128-2130)ttC>ttT	p.F710F	PYGL_uc010tqq.2_Silent_p.F676F	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	710					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TGCCAAAGATGAACAGGTTCT	0.502000														288			119		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41327598	41327598	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:41327598G>A	uc001rmm.1	+	8	1016	c.903G>A	c.(901-903)caG>caA	p.Q301Q	CNTN1_uc009zjy.2_Silent_p.Q301Q|CNTN1_uc001rmn.1_Silent_p.Q290Q|CNTN1_uc001rmo.3_Silent_p.Q301Q	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	301	Ig-like C2-type 3.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCAATATTCAGCTAGAAGATG	0.408000														68			19		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55925701	55925701	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55925701C>T	uc003pcs.3	-	25	2572	c.2340G>A	c.(2338-2340)ttG>ttA	p.L780L	COL21A1_uc010jzz.3_Silent_p.L165L|COL21A1_uc011dxg.2_Silent_p.L153L|COL21A1_uc011dxh.2_Silent_p.L165L|COL21A1_uc003pcr.3_Silent_p.L137L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	780	Collagen-like 5.			L -> W (in Ref. 7; AAH45597).	cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCTTCCCATCCAAACCTGGGG	0.478000														31			26		0	0	1	0	0
SHC4	399694	broad.mit.edu	37	15	49160046	49160046	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:49160046G>A	uc001zxb.1	-	5	1344	c.915C>T	c.(913-915)gcC>gcT	p.A305A	SHC4_uc010uey.1_Silent_p.A62A|SHC4_uc010uez.1_Silent_p.A19A	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) family, member 4 (SHC4), mRNA.	305	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TAGCTACGTAGGCAACATAGT	0.323000														89			15		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16012579	16012579	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:16012579G>A	uc010lsu.3	-	5	1010	c.946C>T	c.(946-948)Cca>Tca	p.P316S	MSR1_uc003wwz.3_Missense_Mutation_p.P298S|MSR1_uc003wxa.3_Missense_Mutation_p.P298S|MSR1_uc003wxb.3_Missense_Mutation_p.P298S|MSR1_uc011kxz.2_Missense_Mutation_p.P72S	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	298	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATACCTATTGGACCTGGAAAT	0.398000														40			20		0	0	1	0	0
C1orf141	400757	broad.mit.edu	37	1	67560983	67560983	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:67560983C>T	uc001ddl.1	-	5	649	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	C1orf141_uc001ddm.1_Missense_Mutation_p.E180K|C1orf141_uc001ddn.1_Intron	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.	180										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTTTTCAATTCATCCTCAAAG	0.323000														38			15		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48275352	48275352	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48275352G>A	uc002iqm.3	-	7	726	c.600C>T	c.(598-600)ggC>ggT	p.G200G		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	200	Triple-helical region.		G -> V (in OI1; patient diagnosed with OI1/OI4).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GACCTTGGAAGCCTTGGGGAC	0.493000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta				OREG0024560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			15		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70863576	70863576	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:70863576G>A	uc002ezr.3	-	80	14205	c.14054C>T	c.(14053-14055)cCc>cTc	p.P4685L	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4686										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)				GATCTCATAGGGCTTGTTTTG	0.587000														13			4		0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905626	15905626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15905626C>T	uc010xos.2	+	0	768	c.768C>T	c.(766-768)gcC>gcT	p.A256A		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						ATGGCTTTGCCTCCGTCATTT	0.572000														50			18		0	0	1	0	0
FAM163B	642968	broad.mit.edu	37	9	136444347	136444348	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:136444347_136444348GG>AA	uc011mdm.2	-	1	320_321	c.297_298CC>TT	c.(295-300)cccccc>ccTTcc	p.P100S		NM_001080515	NP_001073984	P0C2L3	F163B_HUMAN	Homo sapiens family with sequence similarity 163, member B (FAM163B), mRNA.	100						integral to membrane				large_intestine(1)	1						AAGAAGGTGGGGGGCTCGCAGT	0.698000														5			3		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202702705	202702705	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:202702705G>A	uc009xag.3	-	23	3957	c.3841C>T	c.(3841-3843)Cgc>Tgc	p.R1281C	KDM5B_uc001gyf.3_Missense_Mutation_p.R1245C|KDM5B_uc001gyg.1_Missense_Mutation_p.R1087C	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1245					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.R1245C(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TCAGGAAGGCGAACTCGGATA	0.512000														90			44		0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26032146	26032146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:26032146G>A	uc003nfs.1	-	0	143	c.143C>T	c.(142-144)gCt>gTt	p.A48V		NM_003537	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3b (HIST1H3B), mRNA.	48					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CTCGCGCAGAGCCACAGTGCC	0.632000														148			35		0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94140254	94140254	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94140254G>A	uc001dpz.3	-	1	508	c.233C>T	c.(232-234)tCc>tTc	p.S78F	BCAR3_uc001dqa.3_Missense_Mutation_p.S78F|BCAR3_uc001dqb.3_Missense_Mutation_p.S78F	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	78					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CTGCCGTGGGGATTTGGAGTG	0.552000														37			10		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104081960	104081960	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:104081960C>T	uc001tjw.3	+	27	3198	c.3012C>T	c.(3010-3012)ctC>ctT	p.L1004L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1004	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTCATTTCTCTCCGAAGCAG	0.378000														103			53		0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50662634	50662634	+	Missense_Mutation	SNP	G	A	A	rs139968102		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50662634G>A	uc003bkb.1	-	12	2718	c.2206C>T	c.(2206-2208)Cgt>Tgt	p.R736C	TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Missense_Mutation_p.R736C|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hat.1_5'UTR|TUBGCP6_uc003bkd.1_Missense_Mutation_p.R90C	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	736					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)		CGGAGTTCACGGGCGTAGCTG	0.617000														51			14		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103142729	103142729	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103142729G>A	uc002tbz.4	+	10	2419	c.1962G>A	c.(1960-1962)aaG>aaA	p.K654K		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	654					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						CTGGCACCAAGAATATCCGCT	0.517000														114			41		0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130984581	130984581	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130984581C>T	uc022bob.1	+	6	1042	c.955C>T	c.(955-957)Cct>Tct	p.P319S	DNM1_uc022bnx.1_Missense_Mutation_p.P319S|DNM1_uc022bny.1_Missense_Mutation_p.P319S|DNM1_uc022bnz.1_Missense_Mutation_p.P319S|DNM1_uc022boa.1_Missense_Mutation_p.P319S	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	319					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GAACTTCCGCCCTGATGACCC	0.622000														31			21		0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628477	173628478	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:173628477_173628478GG>AA	uc001gja.1	-	1	141_142	c.80_81CC>TT	c.(79-81)gcc>gTT	p.A27V	ANKRD45_uc001gjb.4_Missense_Mutation_p.A27V	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	43										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						ctggttcttgggcttcttcttc	0.441000														22			9		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158596785	158596785	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158596785C>T	uc001fst.1	-	40	5876	c.5677G>A	c.(5677-5679)Gaa>Aaa	p.E1893K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1893					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCTGACTTTCCTCCTGCAAC	0.423000														141			44		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117788850	117788850	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117788850G>A	uc004bjj.4	-	25	6706	c.6294C>T	c.(6292-6294)cgC>cgT	p.R2098R	TNC_uc010mvf.3_Silent_p.R1825R	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	2098	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCAGCTTGTAGCGAGTCTTGG	0.562000														50			17		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70502256	70502256	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:70502256C>T	uc001dep.3	+	17	2153	c.2123C>T	c.(2122-2124)tCc>tTc	p.S708F	LRRC7_uc009wbg.3_Intron|LRRC7_uc001deq.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	708						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						AAAGTGGGGTCCTTGCAGACA	0.448000														102			43		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506871	155506871	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155506871G>A	uc003iod.1	-	4	1768	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	FGA_uc003ioe.1_Silent_p.F570F|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	570					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CACGGGAAGGGAATTCAGCTA	0.428000														89			39		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764252	92764252	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92764252C>T	uc003umh.1	-	4	2249	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	SAMD9L_uc003umj.1_Missense_Mutation_p.E345K|SAMD9L_uc003umi.1_Missense_Mutation_p.E345K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E345K|SAMD9L_uc003umk.1_Missense_Mutation_p.E345K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E345K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E345K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E345K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	345										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTAGCCCCTTCTCTTACAAAC	0.333000														119			56		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531154	50531154	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50531154C>T	uc021pqb.1	+	0	564	c.564C>T	c.(562-564)ttC>ttT	p.F188F	C10orf71_uc021pqa.1_Silent_p.F187F|C10orf71_uc021pqc.1_Silent_p.F188F	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	188										endometrium(1)	1						ACTTCTGCTTCGATTCTGCCT	0.547000														36			10		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160766091	160766091	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160766091C>T	uc001fwu.3	+	0	164	c.114C>T	c.(112-114)ttC>ttT	p.F38F	LY9_uc001fwt.3_Silent_p.F38F|LY9_uc010pjs.1_Silent_p.F38F|LY9_uc001fwv.3_Silent_p.F38F|LY9_uc001fww.3_Silent_p.F38F	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	38					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTCTCCTCTTCCTGCTCATGG	0.493000														183			37		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16205242	16205242	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:16205242C>T	uc010bvi.3	+	21	3057	c.2882C>T	c.(2881-2883)tCc>tTc	p.S961F	ABCC1_uc010bvj.3_Missense_Mutation_p.S902F|ABCC1_uc010bvk.3_Missense_Mutation_p.S905F|ABCC1_uc010bvl.3_Missense_Mutation_p.S961F|ABCC1_uc010bvm.3_Missense_Mutation_p.S846F|ABCC1_uc002del.4_Missense_Mutation_p.S855F	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	961					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.L960R(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTCAAGCTTTCCGTGTACTGG	0.557000														142			55		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113547155	113547155	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113547155C>T	uc022blv.1	+	11	1579	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.S393F|MUSK_uc022blu.1_Missense_Mutation_p.S383F	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	482					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCTTCCTCCTCCTCTTCTTCC	0.403000														67			40		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186115002	186115002	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:186115002C>T	uc001grq.1	+	92	14784	c.14555C>T	c.(14554-14556)cCc>cTc	p.P4852L	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.P421L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4852	TSP type-1 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGTGGCCGTCCCTGTCCCGGA	0.537000														63			16		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57478841	57478841	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:57478841C>T	uc002xzw.3	+	4	2641	c.2356C>T	c.(2356-2358)Cct>Tct	p.P786S	GNAS_uc021wfl.1_3'UTR|GNAS_uc002xzt.3_Missense_Mutation_p.P111S|GNAS_uc010gjq.3_Missense_Mutation_p.P84S|GNAS_uc002xzx.3_Missense_Mutation_p.P84S|GNAS_uc021wfn.1_Missense_Mutation_p.P143S|GNAS_uc021wfo.1_Missense_Mutation_p.P144S|GNAS_uc002yaa.3_Missense_Mutation_p.P128S|GNAS_uc021wfp.1_Missense_Mutation_p.P129S|GNAS_uc002yad.3_Missense_Mutation_p.P34S|GNAS_uc002yae.3_Missense_Mutation_p.P68S	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	143					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTTGACTTCCCTCCCGTAAG	0.582000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				216			53		0	0	1	0	0
FAM73B	84895	broad.mit.edu	37	9	131802909	131802909	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131802909C>T	uc004bxa.3	+	1	222	c.36C>T	c.(34-36)atC>atT	p.I12I	FAM73B_uc004bwy.3_Non-coding_Transcript|FAM73B_uc004bwz.3_Non-coding_Transcript|FAM73B_uc011mbn.1_Silent_p.I12I	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	Homo sapiens family with sequence similarity 73, member B (FAM73B), mRNA.	12						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CGTCTATGATCCAGGCCCTGG	0.592000														34			11		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201063042	201063042	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201063042C>T	uc001gvv.3	-	2	593	c.366G>A	c.(364-366)tgG>tgA	p.W122*		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	122					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCAGCACATTCCAGCCACTGC	0.547000														61			24		0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30858825	30858825	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30858825C>T	uc003nrv.3	+	3	535	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	DDR1_uc010jse.3_Missense_Mutation_p.R165C|DDR1_uc003nrq.3_Missense_Mutation_p.R165C|DDR1_uc003nrr.3_Missense_Mutation_p.R165C|DDR1_uc003nrs.3_Missense_Mutation_p.R165C|DDR1_uc003nrt.3_Missense_Mutation_p.R165C|DDR1_uc011dms.2_Missense_Mutation_p.R183C|DDR1_uc011dmt.2_Missense_Mutation_p.R191C|DDR1_uc003nru.3_Missense_Mutation_p.R165C|DDR1_uc011dmu.1_Missense_Mutation_p.R165C|DDR1_uc003nry.2_Missense_Mutation_p.R165C|DDR1_uc003nrx.2_Missense_Mutation_p.R165C|DDR1_uc003nrw.1_5'Flank	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	165	F5/8 type C.			R -> H (in Ref. 14; AAH70070).	cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCGACTGGTTCGCTTCTACCC	0.632000														59			17		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693326	94693326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:94693326G>A	uc011cdt.2	+	15	2959	c.2701G>A	c.(2701-2703)Gat>Aat	p.D901N	GRID2_uc011cdu.2_Missense_Mutation_p.D806N	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	901					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.I900T(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTCGTCAATTGATTTGACCCC	0.458000														181			11		0	0	1	0	0
FAM114A1	92689	broad.mit.edu	37	4	38907180	38907180	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:38907180C>T	uc003gtn.3	+	4	733	c.474C>T	c.(472-474)gcC>gcT	p.A158A	FAM114A1_uc011byh.2_5'UTR	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	Homo sapiens family with sequence similarity 114, member A1 (FAM114A1), transcript variant 1, mRNA.	158						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAGCAGGAGCCACTCTACGGA	0.448000														137			45		0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5757959	5757959	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5757959C>T	uc001mbt.2	+	0	282	c.213C>T	c.(211-213)ttC>ttT	p.F71F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Silent_p.F71F|OR56B1_uc009yev.1_Silent_p.F71F	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TGTATATTTTCCTTGGCATCC	0.493000														50			16		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16276744	16276744	+	Missense_Mutation	SNP	C	T	T	rs72653780		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:16276744C>T	uc002den.4	-	15	2024	c.1987G>A	c.(1987-1989)Ggt>Agt	p.G663S	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	663	ABC transporter 1.				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)		CCCACTGGACCGACAACAGCC	0.632000														71			25		0	0	1	0	0
FAM35B2	439965	broad.mit.edu	37	10	47379972	47379972	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:47379972G>A	uc010qfz.2	+	0		c.253G>A								Homo sapiens family with sequence similarity 35, member B2 (pseudogene) (FAM35B2), non-coding RNA.																		CAAACTGTATGAATAGACATG	0.363000														21			3		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	36007457	36007457	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:36007457C>T	uc004ddj.3	+	15	2801	c.2735C>T	c.(2734-2736)tCa>tTa	p.S912L	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	912										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GCATATTCCTCACTGGAATGT	0.353000														27			18		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238296801	238296801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:238296801G>A	uc002vwl.2	-	3	1021	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F	COL6A3_uc002vwo.2_Missense_Mutation_p.L40F|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Missense_Mutation_p.L40F|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.L246F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	246	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCATCAATAAGGAAAATAATG	0.378000														73			21		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10079083	10079083	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10079083G>A	uc002mmq.1	-	58	4378	c.4292C>T	c.(4291-4293)cCc>cTc	p.P1431L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1431	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)			GGGACCAGGGGGTCCCTGCAC	0.597000														172			72		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94137937	94137937	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:94137937A>G	uc011cdt.2	+	5	1096	c.838A>G	c.(838-840)Agg>Ggg	p.R280G	GRID2_uc010ikx.3_Missense_Mutation_p.R280G|GRID2_uc011cdu.2_Missense_Mutation_p.R185G|GRID2_uc010ikz.1_5'UTR	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	280					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GTCAATTGGAAGGTTAACGAT	0.393000														169			41		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98507826	98507826	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:98507826C>T	uc003upp.3	+	14	1707	c.1498C>T	c.(1498-1500)Cca>Tca	p.P500S	TRRAP_uc011kis.2_Missense_Mutation_p.P500S|TRRAP_uc003upr.3_Missense_Mutation_p.P192S	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	500	Pro-rich.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTCCCTCCCCAGCCCCTGT	0.662000														61			23		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95085787	95085787	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:95085787G>A	uc001ydp.3	+	2	1058	c.899G>A	c.(898-900)aGa>aAa	p.R300K	SERPINA3_uc001ydo.4_Missense_Mutation_p.R325K|SERPINA3_uc001ydr.3_Intron|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.R300K|SERPINA3_uc001yds.3_Missense_Mutation_p.R300K	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	300					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AAGCGGTGGAGAGACTCTCTG	0.557000														47			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179418650	179418650	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179418650C>T	uc021vsy.1	-	281	81709	c.81484G>A	c.(81484-81486)Gat>Aat	p.D27162N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D20857N|TTN_uc021vta.1_Missense_Mutation_p.D20790N|TTN_uc021vtb.1_Missense_Mutation_p.D20665N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28089	Ig-like 129.						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)			CCAATAGGATCAGCAGCTTTG	0.393000														35			11		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20180764	20180764	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:20180764G>A	uc003sus.4	-	6	2673	c.2364C>T	c.(2362-2364)gcC>gcT	p.A788A	MACC1_uc010kug.3_Silent_p.A788A	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	788					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GAAAATCATAGGCAGGTTTCC	0.358000														79			27		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133894781	133894781	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133894781C>T	uc003ytw.3	+	6	854	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	271	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTCCACCTTCACTGAAACCA	0.458000														228			21		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6937593	6937593	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6937593G>A	uc002mfw.3	+	19	2627	c.2589G>A	c.(2587-2589)acG>acA	p.T863T	EMR1_uc010dvc.3_Silent_p.T798T|EMR1_uc010dvb.3_Silent_p.T844T|EMR1_uc010xji.2_Silent_p.T722T|EMR1_uc010xjj.2_Silent_p.T686T	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	863					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)					CTGGGAAGACGAAGCCCAGCT	0.557000														131			29		0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31524554	31524554	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31524554C>T	uc003aju.4	+	8	2199	c.2107C>T	c.(2107-2109)Ctc>Ttc	p.L703F	INPP5J_uc003ajw.3_Missense_Mutation_p.L139F|INPP5J_uc003ajt.4_Missense_Mutation_p.L335F|INPP5J_uc003ajv.4_Missense_Mutation_p.L336F|INPP5J_uc003ajs.4_Missense_Mutation_p.L336F|INPP5J_uc011alk.2_Missense_Mutation_p.L636F|INPP5J_uc010gwg.3_Missense_Mutation_p.L268F	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	703	Catalytic (Potential).					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GAGCCACCGACTCCAGGTGAC	0.607000														53			27		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71496142	71496142	+	Silent	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:71496142C>G	uc003kbw.4	+	4	7201	c.6960C>G	c.(6958-6960)acC>acG	p.T2320T	MAP1B_uc010iyw.1_Silent_p.T2337T|MAP1B_uc010iyx.1_Silent_p.T2194T|MAP1B_uc010iyy.1_Silent_p.T2194T	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	2320						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACAAGGAGACCAAGAATGCTG	0.507000														99			43		0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79854699	79854699	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:79854699G>A	uc010jam.3	-	3	1490	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	ANKRD34B_uc003kgw.3_Silent_p.T380T|ANKRD34B_uc010jan.3_Silent_p.T380T|ANKRD34B_uc021yax.1_Silent_p.T380T	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	380						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)		AAGTTGGAGGGGTAAGGCCAG	0.428000														53			24		0	0	1	0	0
PLAC9	219348	broad.mit.edu	37	10	81903997	81903997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81903997G>A	uc001kbp.1	+	2	442	c.181G>A	c.(181-183)Gat>Aat	p.D61N		NM_001012973	NP_001012991	Q5JTB6	PLAC9_HUMAN	Homo sapiens placenta-specific 9 (PLAC9), mRNA.	61						extracellular region				kidney(1)|ovary(1)	2	Prostate(51;0.0095)|all_epithelial(25;0.175)		Colorectal(32;0.109)			GAAGACCGTGGATCACCTGGG	0.612000											OREG0020321	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			23		0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6623959	6623959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6623959C>T	uc001qoo.2	+	8	906	c.860C>T	c.(859-861)cCc>cTc	p.P287L	NCAPD2_uc009zen.1_Missense_Mutation_p.P159L|NCAPD2_uc010sfd.1_Missense_Mutation_p.P242L	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	287	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAAAAGTGTCCCCAAGAGCTG	0.478000														71			23		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206305266	206305266	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:206305266C>T	uc002var.2	+	19	3121	c.2914C>T	c.(2914-2916)Cca>Tca	p.P972S	PARD3B_uc002vao.2_Intron|PARD3B_uc002vap.2_Missense_Mutation_p.P910S|PARD3B_uc002vaq.2_Missense_Mutation_p.P903S	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	972					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTTTAGATCTCCATCTCCCCC	0.483000														97			60		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73470747	73470747	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:73470747C>T	uc003tzw.3	+	19	1388	c.1297C>T	c.(1297-1299)Ccg>Tcg	p.P433S	ELN_uc003tzn.3_Missense_Mutation_p.P433S|ELN_uc003tzy.3_Missense_Mutation_p.P428S|ELN_uc003tzz.3_Intron|ELN_uc003tzo.3_Missense_Mutation_p.P419S|ELN_uc003tzp.3_Intron|ELN_uc003tzq.3_Missense_Mutation_p.P316S|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Missense_Mutation_p.P433S|ELN_uc003tzt.3_Missense_Mutation_p.P438S|ELN_uc003tzu.3_Missense_Mutation_p.P438S|ELN_uc003tzv.3_Missense_Mutation_p.P423S|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.P423S|ELN_uc011kff.2_Missense_Mutation_p.P433S	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	433	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CGGAGGTGTCCCGGGAGTTGG	0.637000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							82			44		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72301234	72301234	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72301234G>A	uc001jrd.4	+	16	2346	c.2065G>A	c.(2065-2067)Ggt>Agt	p.G689S	KIAA1274_uc001jre.4_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	689										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						CCCCGAGGTGGGTGAGGAGGA	0.632000														24			8		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94056584	94056584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94056584C>T	uc003ung.1	+	47	3715	c.3244C>T	c.(3244-3246)Cct>Tct	p.P1082S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1082					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)	CATTCGAGGCCCTCAGGGTCA	0.502000										HNSCC(75;0.22)				11			7		0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41386449	41386449	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41386449C>T	uc002opm.3	-	2	970	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	CYP2A7_uc002opo.3_Missense_Mutation_p.R143Q|CYP2A7_uc002opn.3_Missense_Mutation_p.R92Q	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	143						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTCGATGCCTCGCTTGCCCAC	0.672000														32			11		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623449	100623449	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:100623449C>T	uc002taf.3	-	5	737	c.593G>A	c.(592-594)gGa>gAa	p.G198E	AFF3_uc002tag.3_Missense_Mutation_p.G173E|AFF3_uc010fiq.1_Missense_Mutation_p.G173E|AFF3_uc010yvr.1_Missense_Mutation_p.G327E|AFF3_uc002tah.1_Missense_Mutation_p.G198E|AFF3_uc010fir.1_Missense_Mutation_p.G250E	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	173					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AACACCATCTCCAAGCAAGGT	0.547000														45			17		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1488383	1488383	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1488383G>A	uc002qwr.3	+	8	1440	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.D452N|TPO_uc002qwx.3_Missense_Mutation_p.D452N|TPO_uc002qwu.3_Missense_Mutation_p.D452N|TPO_uc010yio.2_Missense_Mutation_p.D279N|TPO_uc010yip.2_Missense_Mutation_p.D452N|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	452					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CACCCTGAGGGATTACATCCC	0.577000														24			13		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554407	28554407	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:28554407C>T	uc003nlo.3	-	0	706	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	AK056211_uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	30					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GTGTGGTCTTCTTCTTTAACC	0.502000														57			30		0	0	1	0	0
ATL1	51062	broad.mit.edu	37	14	51054558	51054558	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:51054558C>T	uc021rsw.1	+	1	285	c.44C>T	c.(43-45)tCg>tTg	p.S15L	ATL1_uc001wyd.4_Missense_Mutation_p.S15L|ATL1_uc001wyf.4_Missense_Mutation_p.S15L|ATL1_uc001wye.4_Missense_Mutation_p.S15L|ATL1_uc021rsx.1_Missense_Mutation_p.S15L	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	15					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						GGTGGATTTTCGGAAAAGACA	0.433000														61			26		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55175707	55175707	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55175707G>A	uc010ooe.1	+	23	4143	c.3819G>A	c.(3817-3819)caG>caA	p.Q1273Q	HEATR8_uc001cxq.3_Intron|HEATR8_uc010ood.1_Silent_p.Q791Q|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Silent_p.Q474Q	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1273						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						GCTGCTGGCAGAACTCCTGGC	0.617000														62			6		0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39515267	39515267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:39515267G>A	uc002rro.3	-	19	1560	c.1469C>T	c.(1468-1470)gCc>gTc	p.A490V	MAP4K3_uc002rrp.3_Missense_Mutation_p.A469V|MAP4K3_uc010yns.2_Missense_Mutation_p.A43V	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	490					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				ATTACCTAAGGCAACAGGTTT	0.438000														138			58		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46781659	46781659	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:46781659C>T	uc002eei.4	-	0	563	c.447G>A	c.(445-447)agG>agA	p.R149R	MYLK3_uc010vge.2_Intron	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	149					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGCTGCCTCTCCTCCAGGGCA	0.667000														88			22		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43212399	43212399	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:43212399C>T	uc002lbe.3	+	4	1422	c.606C>T	c.(604-606)taC>taT	p.Y202Y	SLC14A2_uc002lbb.3_Silent_p.Y202Y|SLC14A2_uc010dnj.3_Silent_p.Y202Y	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	202						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGTTAGACTACTACTGGTGGC	0.552000														151			34		0	0	1	0	0
GOLGA6C	653641	broad.mit.edu	37	15	75557688	75557688	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:75557688G>A	uc002azs.2	+	8	723	c.682G>A	c.(682-684)Gag>Aag	p.E228K	DQ588973_uc002azt.2_5'Flank	NM_001164404	NP_001157876	A6NDK9	GOG6C_HUMAN	Homo sapiens golgin A6 family, member C (GOLGA6C), mRNA.	228										ovary(1)	1						AGTCCAGCTAGAGCGGGACGA	0.552000														458			62		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222821	140222821	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140222821G>A	uc003lhs.2	+	0	1915	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	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_uc003lhr.1_Missense_Mutation_p.E639K	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	650	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)			TGTCCTGGACGAAGCGGACTC	0.647000														41			49		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241689931	241689931	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241689931G>A	uc010fzk.3	-	27	3139	c.2892C>T	c.(2890-2892)ccC>ccT	p.P964P	KIF1A_uc002vzy.3_Silent_p.P863P|KIF1A_uc002vzz.2_Silent_p.P964P	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	863					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCAGGGGAACGGGGTACAGCA	0.657000														36			7		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48703660	48703660	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48703660C>T	uc002irk.1	+	37	7054	c.6682C>T	c.(6682-6684)Ctc>Ttc	p.L2228F	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Missense_Mutation_p.L2112F|CACNA1G_uc002irm.1_Missense_Mutation_p.L2149F|CACNA1G_uc002irn.1_Missense_Mutation_p.L2094F|CACNA1G_uc002iro.1_Missense_Mutation_p.L2101F|CACNA1G_uc002irp.1_Missense_Mutation_p.L2183F|CACNA1G_uc002irq.1_Missense_Mutation_p.L2205F|CACNA1G_uc002irr.1_Missense_Mutation_p.L2135F|CACNA1G_uc002irs.1_Missense_Mutation_p.L2172F|CACNA1G_uc002irt.1_Missense_Mutation_p.L2117F|CACNA1G_uc002iru.1_Missense_Mutation_p.L2194F|CACNA1G_uc002irv.1_Missense_Mutation_p.L2124F|CACNA1G_uc002irw.1_Missense_Mutation_p.L2157F|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002isg.1_Missense_Mutation_p.L1996F|CACNA1G_uc002ish.1_Missense_Mutation_p.L2003F|CACNA1G_uc002isi.1_Missense_Mutation_p.L1991F|CACNA1G_uc002irz.1_Missense_Mutation_p.L2041F|CACNA1G_uc002isa.1_Missense_Mutation_p.L2014F|CACNA1G_uc002isd.1_Missense_Mutation_p.L2023F|CACNA1G_uc002isb.1_Missense_Mutation_p.L2055F|CACNA1G_uc002isc.1_Missense_Mutation_p.L2130F|CACNA1G_uc002ise.1_Missense_Mutation_p.L2051F|CACNA1G_uc002isf.1_Missense_Mutation_p.L2078F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	2228					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TTCAGGAGACCTCCTGCCCCC	0.662000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			20		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141890	29141890	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29141890C>T	uc011dlm.2	+	0	580	c.478C>T	c.(478-480)Cat>Tat	p.H160Y		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H160D(2)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTCAGCACTTCATTCCTCCTT	0.463000														265			32		0	0	1	0	0
SNRPB	6628	broad.mit.edu	37	20	2442431	2442431	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:2442431G>T	uc002wfz.1	-	6	857	c.694C>A	c.(694-696)Ccc>Acc	p.P232T	SNRPB_uc002wga.1_3'UTR|SNRPB_uc010zpv.2_3'UTR|SNRPB_uc002wgb.3_3'UTR	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	232	Repeat-rich region.				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						ATTCCCGGGGGAGGGGGCCCT	0.547000														69			25		3.73148e-12	3.74679e-12	1	1	0
SERPINB3	6317	broad.mit.edu	37	18	61310721	61310721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61310721G>A	uc002ljf.3	-	1	177	c.91C>T	c.(91-93)Cct>Tct	p.P31S	SERPINB3_uc002lje.3_Missense_Mutation_p.P31S|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	31					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.P31T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATGCTGATAGGGGAATAGAAG	0.423000														184			39		0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139429023	139429023	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:139429023C>T	uc002tvi.3	-	1	264	c.264G>A	c.(262-264)acG>acA	p.T88T		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	88	II.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CCTGAATCTCCGTGATGTTGG	0.483000														41			76		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029765	13029765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:13029765G>A	uc002wod.1	+	1	579	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SPTLC3_uc002woc.3_Missense_Mutation_p.R97K	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	97					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCTGTGGAAAGAAAAGAACAA	0.428000														79			22		0	0	1	0	0
DYDC1	143241	broad.mit.edu	37	10	82098192	82098192	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:82098192G>A	uc001kby.1	-	6	700	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	DYDC1_uc001kbx.3_Intron|DYDC1_uc009xsr.1_Missense_Mutation_p.R179C			Q8WWB3	DYDC1_HUMAN	Homo sapiens DPY30 domain containing 1 (DYDC1), mRNA.	0										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			aaacaaaaacGAGTTTTTTCA	0.383000														47			15		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44673604	44673604	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44673604G>A	uc010zxl.1	+	12	1540	c.1464_splice	c.e12-1	p.K488_splice	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Splice_Site_p.K465_splice	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	488					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATCATTCCAGGTTTGGCGAA	0.562000														130			70		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103310945	103310945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103310945G>A	uc002tca.3	+	5	1640	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	500						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGCTGTCAGTGAAGAAATCTA	0.363000														67			15		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303925	151303925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151303925G>A	uc022cgz.1	-	0	168	c.168C>T	c.(166-168)tcC>tcT	p.S56S	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.S56S|MAGEA10_uc004ffm.2_Silent_p.S56S|MAGEA10_uc004ffl.3_Silent_p.S56S	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	56	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaagaggaggaggagg	0.557000														40			19		0	0	1	0	0
HERC2P4	440362	broad.mit.edu	37	16	32163819	32163819	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:32163819G>A	uc002ecx.3	-	0		c.56C>T								Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA.																		GCGGAGCTGGGAGTTGATGTA	0.527000														69			7		0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19125809	19125809	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:19125809G>A	uc002zou.3	-	6	881	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S		NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA.	282					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TTGCCATCGGGGCCCACCTTG	0.627000														28			10		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84523312	84523312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:84523312G>A	uc004eeq.3	+	7	1953	c.1067G>A	c.(1066-1068)aGa>aAa	p.R356K	ZNF711_uc004eep.3_Missense_Mutation_p.R310K|ZNF711_uc004eeo.3_Missense_Mutation_p.R310K|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	310					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GATGAAAGAAGAGTTTCCCGA	0.303000														13			5		0	0	1	0	0
OR9G9	390174	broad.mit.edu	37	11	56468244	56468244	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56468244G>A	uc010rjn.2	+	0	381	c.381G>A	c.(379-381)aaG>aaA	p.K127K	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										CCATCTCCAAGCCCCTGCTTT	0.522000														169			33		0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117509617	117509617	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:117509617C>T	uc001egv.1	+	5	1861	c.1724C>T	c.(1723-1725)tCc>tTc	p.S575F		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	575	Ig-like C2-type 5.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		AAAGTATCTTCCAAGAATATT	0.478000														56			12		0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59126874	59126874	+	Missense_Mutation	SNP	G	A	A	rs141454457		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:59126874G>A	uc009wab.2	-	18	2319	c.2296C>T	c.(2296-2298)Cgc>Tgc	p.R766C	MYSM1_uc001cza.3_Missense_Mutation_p.R172C|MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	766					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R766C(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					GAATCCCGGCGAAAGATTTTA	0.363000														50			23		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216288081	216288081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:216288081G>A	uc002vfa.3	-	8	1651	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	FN1_uc002vfc.3_Missense_Mutation_p.P462L|FN1_uc002vfe.3_Missense_Mutation_p.P462L|FN1_uc002vff.3_Missense_Mutation_p.P462L|FN1_uc002vfg.3_Missense_Mutation_p.P462L|FN1_uc002vfh.3_Missense_Mutation_p.P462L|FN1_uc002vfi.3_Missense_Mutation_p.P462L|FN1_uc002vfj.3_Missense_Mutation_p.P462L|FN1_uc002vfb.3_Missense_Mutation_p.P462L|FN1_uc002vfl.3_Missense_Mutation_p.P462L	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	462	Collagen-binding.|Fibronectin type-II 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCAGCCATGGGGCAGAACCC	0.458000														54			34		0	0	1	0	0
MPP3	4356	broad.mit.edu	37	17	41907410	41907410	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:41907410G>A	uc002ieh.3	-	3	624	c.363C>T	c.(361-363)tcC>tcT	p.S121S	MPP3_uc002iei.4_Silent_p.S96S|MPP3_uc002iej.3_Non-coding_Transcript|MPP3_uc010czi.2_Silent_p.S96S|MPP3_uc010wik.2_Silent_p.S121S|MPP3_uc010czj.2_Silent_p.S96S	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	96					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GGTGCGGGGTGGACAGCAGCT	0.637000														23			10		0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671680	31671680	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31671680G>A	uc010zue.2	+	3	692	c.677_splice	c.e3+1	p.G226_splice		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	226	Gly-rich.					cytoplasm|extracellular region	lipid binding										GGCATCACGGGGTAAGGAGGG	0.622000														33			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430142	179430142	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179430142C>T	uc021vsy.1	-	274	73238	c.73013G>A	c.(73012-73014)cGa>cAa	p.R24338Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R18033Q|TTN_uc021vta.1_Missense_Mutation_p.R17966Q|TTN_uc021vtb.1_Missense_Mutation_p.R17841Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25265	Fibronectin type-III 76.						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)			AGGTCTTGGTCGGCCTATAAC	0.383000														80			27		0	0	1	0	0
ZNF778	197320	broad.mit.edu	37	16	89293398	89293398	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89293398C>T	uc021tms.1	+	6	1041	c.702C>T	c.(700-702)ttC>ttT	p.F234F	ZNF778_uc010vpg.2_5'UTR|ZNF778_uc002fmv.3_Silent_p.F206F|ZNF778_uc002fmw.2_Silent_p.F164F	NM_001201407	NP_001188336	Q96MU6	ZN778_HUMAN	Homo sapiens zinc finger protein 778 (ZNF778), transcript variant 1, mRNA.	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GGGAAGTGTTCCTTAATCAGT	0.502000														155			44		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038215	75038215	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75038215C>T	uc001dgg.3	-	13	3398	c.3179G>A	c.(3178-3180)cGa>cAa	p.R1060Q		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1060	Glu-rich.									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						AGCTTTCCTTCGCTCTCTTGC	0.428000														191			71		0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47571021	47571021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47571021G>A	uc002pga.4	-	14	2542	c.2504C>T	c.(2503-2505)tCa>tTa	p.S835L	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	835							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CTCCCCAACTGAAGCCGGGGG	0.652000														13			3		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10427852	10427852	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10427852C>T	uc010coi.3	-	34	5234	c.5106G>A	c.(5104-5106)gaG>gaA	p.E1702E	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.E1702E|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1702					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1702Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTCTGCTCCTCTCTGTCTGTT	0.577000														62			43		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857197	9857197	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:9857197G>A	uc010uym.2	-	13	4514	c.4204C>T	c.(4204-4206)Cgg>Tgg	p.R1402W	GRIN2A_uc002czo.4_Missense_Mutation_p.R1402W|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1402					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1402W(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAGGACGACCGAAGATAGCTG	0.522000														65			17		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23855800	23855800	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23855800G>A	uc001wjv.3	-	32	4754	c.4683C>T	c.(4681-4683)ctC>ctT	p.L1561L		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1561					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)		GCTGGGCCCGGAGGATCTTGC	0.642000														183			77		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606135	21606135	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:21606135C>T	uc003cce.3	-	2	615	c.207G>A	c.(205-207)ggG>ggA	p.G69G	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	69						nucleus	nucleic acid binding|zinc ion binding	p.G69W(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GAAGAGGAACCCCGAATGTAT	0.343000														84			24		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32053653	32053653	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32053653G>A	uc003nzl.2	-	6	3224	c.3022C>T	c.(3022-3024)Ctg>Ttg	p.L1008L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1095	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCCCTGGCAGCACTTCCTCA	0.677000														54			27		0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49390836	49390836	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49390836G>A	uc001rsv.1	-	1	1841	c.1823C>T	c.(1822-1824)gCc>gTc	p.A608V		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	608	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		p.E607G(1)		NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CAGGGCCCCGGCGTAGGGCCC	0.736000														11			4		0	0	1	0	0
ESCO2	157570	broad.mit.edu	37	8	27660931	27660931	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:27660931C>T	uc003xgg.3	+	10	1865	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F	ESCO2_uc010luy.1_Intron	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.	594					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		CCCCTAATTTCCTCGTATATA	0.333000									SC Phocomelia syndrome					65			26		0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100502	93100502	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:93100502G>A	uc001tch.2	+	1	546	c.95G>A	c.(94-96)gGg>gAg	p.G32E	C12orf74_uc001tci.3_Missense_Mutation_p.G32E|C12orf74_uc021rbt.1_Missense_Mutation_p.G32E	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	32										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						AAGAACCAGGGGAGTCTCCTC	0.597000														41			17		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449186	104449186	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104449186C>T	uc004bbp.2	-	1	1597	c.996G>A	c.(994-996)atG>atA	p.M332I	GRIN3A_uc004bbq.1_Missense_Mutation_p.M332I	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	332					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGATACTTTCCATGTCGCAGC	0.517000														41			13		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26690364	26690364	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26690364C>T	uc003acb.3	+	2	1138	c.942C>T	c.(940-942)gtC>gtT	p.V314V	SEZ6L_uc003acd.3_Silent_p.V314V|SEZ6L_uc011akd.2_Silent_p.V314V|SEZ6L_uc003ace.3_Silent_p.V314V|SEZ6L_uc011akc.2_Silent_p.V314V|SEZ6L_uc003acc.3_Silent_p.V314V|SEZ6L_uc003acf.1_Silent_p.V87V|SEZ6L_uc010gvc.1_Silent_p.V87V	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	314	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACGTGACAGTCTACACTGGCT	0.552000														70			47		0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207195413	207195413	+	Missense_Mutation	SNP	G	A	A	rs147463881		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207195413G>A	uc001hfd.2	-	3	1955	c.1696C>T	c.(1696-1698)Cgt>Tgt	p.R566C	C1orf116_uc009xcb.1_Missense_Mutation_p.R320C|C1orf116_uc021pii.1_Missense_Mutation_p.R320C	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	566						cytoplasm|plasma membrane	receptor activity	p.R566H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AGCTTGTCACGGCTCTGTCCT	0.587000														43			16		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38424437	38424437	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:38424437G>A	uc003tgu.3	-	20	2286	c.2070C>T	c.(2068-2070)ttC>ttT	p.F690F	AMPH_uc003tgv.3_Silent_p.F648F|AMPH_uc003tgt.3_Silent_p.F575F	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	690	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AGCGTCGGGTGAAGTTCTCTG	0.458000														101			29		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20790053	20790053	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:20790053C>T	uc001reh.2	+	8	2061	c.2021C>T	c.(2020-2022)cCc>cTc	p.P674L	PDE3A_uc021qwa.1_Missense_Mutation_p.P352L	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	674					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATTCTTGCTCCCGAACCTCTT	0.333000														36			18		0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72548855	72548855	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72548855G>A	uc002auc.3	-	12	1535	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	PARP6_uc002aua.3_Missense_Mutation_p.P204L|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Missense_Mutation_p.P359L	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	359							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CACCACAGAGGGATAAGGCTC	0.468000														40			23		0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74729435	74729435	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:74729435C>T	uc002fdb.2	-	1	662	c.221G>A	c.(220-222)gGg>gAg	p.G74E	MLKL_uc002fdc.2_Missense_Mutation_p.G74E	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	74							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TTCTATCTCCCCATTAGCCTC	0.498000														104			14		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187629015	187629015	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187629015G>A	uc003izf.3	-	1	2155	c.1967C>T	c.(1966-1968)cCa>cTa	p.P656L	FAT1_uc010iso.1_Missense_Mutation_p.P656L	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	656	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATATATAATGGTGTGGCAAA	0.448000										HNSCC(5;0.00058)				74			30		0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151093031	151093031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151093031C>T	uc022cgv.1	+	0	895	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	MAGEA4_uc004fez.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffa.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffb.3_Missense_Mutation_p.R299C|MAGEA4_uc022cgu.1_Missense_Mutation_p.R327C|MAGEA4_uc004ffc.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffd.3_Missense_Mutation_p.R299C	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	299	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGAGTTCGCATTGCCTA	0.567000														50			67		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124438117	124438117	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124438117G>A	uc003ehg.3	+	59	8888	c.8761G>A	c.(8761-8763)Gaa>Aaa	p.E2921K	KALRN_uc003ehk.3_Missense_Mutation_p.E1224K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2920	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E2921*(1)|p.E1224*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GATCTTACAGGAAGATTTTCG	0.522000														64			12		0	0	1	0	0
ODF3L2	284451	broad.mit.edu	37	19	474630	474630	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:474630G>A	uc002lor.3	-	0	354	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	ODF3L2_uc010drp.3_Silent_p.L40L	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN	Homo sapiens outer dense fiber of sperm tails 3-like 2 (ODF3L2), mRNA.	40										large_intestine(1)|lung(2)	3						CCGTTCTCCAGGGTGGCCGTC	0.672000														12			5		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25451229	25451229	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25451229G>A	uc001upr.3	+	33	4719	c.4678G>A	c.(4678-4680)Gag>Aag	p.E1560K	RNF17_uc010tde.2_Missense_Mutation_p.E1556K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E1499K|RNF17_uc010aac.3_Missense_Mutation_p.E752K|RNF17_uc010aad.3_Missense_Mutation_p.E570K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1560					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)		GGATCTAGGGGAGACAAGAAT	0.463000														90			43		0	0	1	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406380	39406380	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39406380G>A	uc002hwi.3	+	0	442	c.408G>A	c.(406-408)gaG>gaA	p.E136E		NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	Homo sapiens keratin associated protein 9-4 (KRTAP9-4), mRNA.	136	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTGCTGTGAGACCACTTGCT	0.572000														83			75		0	0	1	0	0
KIF2A	3796	broad.mit.edu	37	5	61669557	61669557	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:61669557C>T	uc003jsy.4	+	16	2001	c.1690C>T	c.(1690-1692)Cgt>Tgt	p.R564C	KIF2A_uc003jsz.4_Missense_Mutation_p.R602C|KIF2A_uc003jsx.4_Missense_Mutation_p.R544C|KIF2A_uc010iwp.3_Missense_Mutation_p.R545C|KIF2A_uc010iwq.3_Missense_Mutation_p.R367C	NM_004520	NP_004511	O00139	KIF2A_HUMAN	Homo sapiens kinesin heavy chain member 2A (KIF2A), transcript variant 1, mRNA.	564					blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TGGTGATGTTCGTCCAATAAT	0.418000														41			9		0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24896103	24896103	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:24896103G>A	uc003aaf.3	+	1	1428	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	UPB1_uc003aae.3_Intron	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	45					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GGAAGCTTTCGAAGCTGCCTC	0.522000														86			41		0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14664469	14664469	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:14664469C>T	uc001rcc.1	-	6	1182	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	341					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GAAAAGATGTCTGCCCACCTC	0.428000														148			62		0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89789189	89789189	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89789189C>T	uc002fos.4	+	1	553	c.456C>T	c.(454-456)tcC>tcT	p.S152S	C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.3_5'UTR|ZNF276_uc002foq.4_Silent_p.S77S|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_5'UTR|ZNF276_uc010cis.3_5'UTR|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_5'Flank|ZNF276_uc010cit.2_5'Flank	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	152	ZAD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTCTCAAGTCCTTCCTGCAGA	0.607000														79			40		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157985168	157985168	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:157985168C>T	uc003wno.3	-	4	521	c.400G>A	c.(400-402)Ggc>Agc	p.G134S	PTPRN2_uc003wnp.3_Missense_Mutation_p.G117S|PTPRN2_uc003wnq.3_Missense_Mutation_p.G134S|PTPRN2_uc003wnr.3_Missense_Mutation_p.G96S|PTPRN2_uc011kwa.2_Missense_Mutation_p.G157S	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	134						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V133I(2)|p.V133F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTCTCGCTGCCAACGCTGTGT	0.637000														86			18		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129913387	129913387	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:129913387C>T	uc001lke.3	-	6	1480	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	MKI67_uc001lkf.3_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	429					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)				ACTTCCACATCTGTAGGAATA	0.428000														105			40		0	0	1	0	0
FBXO3	26273	broad.mit.edu	37	11	33777415	33777415	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:33777415G>A	uc001muz.3	-	4	608	c.580C>T	c.(580-582)Ctc>Ttc	p.L194F	FBXO3_uc010rej.2_5'Flank|FBXO3_uc001muy.3_Missense_Mutation_p.L81F|FBXO3_uc009ykb.3_Non-coding_Transcript|FBXO3_uc001mva.1_Missense_Mutation_p.L194F|FBXO3_uc001mvb.1_Missense_Mutation_p.L189F|FBXO3_uc010rek.1_Intron	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	Homo sapiens F-box protein 3 (FBXO3), transcript variant 1, mRNA.	194					proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		GTTAAAGGGAGACAGTATTTC	0.448000														38			30		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71908145	71908145	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71908145G>A	uc010fen.3	+	53	6219	c.6078G>A	c.(6076-6078)atG>atA	p.M2026I	DYSF_uc010fei.3_Missense_Mutation_p.M2004I|DYSF_uc010feh.3_Missense_Mutation_p.M1994I|DYSF_uc002sig.4_Missense_Mutation_p.M1973I|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.M2018I|DYSF_uc010fee.3_Missense_Mutation_p.M2008I|DYSF_uc010fef.3_Missense_Mutation_p.M2025I|DYSF_uc002sie.3_Missense_Mutation_p.M1987I|DYSF_uc010feo.3_Missense_Mutation_p.M2019I|DYSF_uc010fej.3_Missense_Mutation_p.M1995I|DYSF_uc010fel.3_Missense_Mutation_p.M1974I|DYSF_uc010fem.3_Missense_Mutation_p.M2009I|DYSF_uc002sif.3_Missense_Mutation_p.M1988I|DYSF_uc010fek.3_Missense_Mutation_p.M2005I|DYSF_uc010yqy.2_Missense_Mutation_p.M868I|DYSF_uc010yqz.2_Missense_Mutation_p.M748I	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1987						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGCTGGAAATGACCTTGGAGA	0.572000														26			6		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317513	30317513	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:30317513C>T	uc009xle.2	-	2	1701	c.1564G>A	c.(1564-1566)Gca>Aca	p.A522T	KIAA1462_uc001iux.3_Missense_Mutation_p.A522T|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.A384T	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	522										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGTCCCCTTGCCACACAGCGG	0.642000														130			44		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3687253	3687253	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3687253C>T	uc002wja.3	-	1	150	c.150G>A	c.(148-150)gaG>gaA	p.E50E	SIGLEC1_uc002wiz.4_Silent_p.E50E|SIGLEC1_uc002wjc.3_5'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	50	Ig-like V-type.				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						CGTCGGGCACCTCCACGTCGG	0.667000														12			3		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38493843	38493843	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38493843G>A	uc010ive.1	-	13	2262	c.1930C>T	c.(1930-1932)Ctc>Ttc	p.L644F	LIFR_uc003jli.2_Missense_Mutation_p.L644F	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	644	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CAGGTGAGGAGAATCCCCTTT	0.413000			T	PLAG1	salivary adenoma									84			28		0	0	1	0	0
HIC1	3090	broad.mit.edu	37	17	1961664	1961664	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:1961664G>A	uc010cjy.3	+	1	1737	c.1737G>A	c.(1735-1737)acG>acA	p.T579T	HIC1_uc002fty.4_Silent_p.T560T|HIC1_uc002ftz.4_Silent_p.T560T|HIC1_uc021tnn.1_Silent_p.T560T	NM_001098202	NP_006488	Q14526	HIC1_HUMAN	Homo sapiens hypermethylated in cancer 1 (HIC1), transcript variant 2, mRNA.	579					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		ACCGCCTCACGGAGCACATGC	0.657000														10			8		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480622	140480622	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140480622C>T	uc003lio.3	+	0	389	c.389C>T	c.(388-390)tCt>tTt	p.S130F	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	130	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S130S(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGACCATTCTCCGGTATTC	0.413000														107			45		0	0	1	0	0
GNRHR	2798	broad.mit.edu	37	4	68610308	68610309	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:68610308_68610309CC>TT	uc003hdn.3	-	1	2470_2471	c.719_720GG>AA	c.(718-720)cgg>cAA	p.R240Q	LOC550112_uc003hdl.4_Intron|GNRHR_uc003hdm.3_Missense_Mutation_p.G198S	NM_000406	NP_000397	P30968	GNRHR_HUMAN	Homo sapiens gonadotropin-releasing hormone receptor (GNRHR), transcript variant 1, mRNA.	240					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	p.R240W(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	GATGAAGGACCCGTGTCAGGGT	0.416000														65			14		0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54872761	54872761	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54872761C>T	uc002qfk.1	-	2	436	c.126G>A	c.(124-126)ggG>ggA	p.G42G	LAIR1_uc002qfl.1_Silent_p.G42G|LAIR1_uc002qfm.1_Silent_p.G41G|LAIR1_uc002qfn.1_Silent_p.G41G|LAIR1_uc010yex.2_Silent_p.G35G|LAIR1_uc002qfo.3_Silent_p.G24G	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	42	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity	p.G42G(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCACATGGCTCCCCAGGGGGA	0.572000														150			60		0	0	1	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29957530	29957530	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:29957530G>A	uc003afx.4	-	5	799	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S	NIPSNAP1_uc011akp.2_Missense_Mutation_p.P162S	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	Homo sapiens nipsnap homolog 1 (C. elegans) (NIPSNAP1), transcript variant 1, mRNA.	182								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						TAGATGTTGGGACCCATTCTG	0.582000														78			33		0	0	1	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93390138	93390138	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:93390138C>T	uc001kho.3	-	1	632	c.500G>A	c.(499-501)cGa>cAa	p.R167Q		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3C (PPP1R3C), mRNA.	167	CBM21.|Interaction with EPM2A.						protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				TGTCACTGTTCGCTCTTGCAA	0.413000														117			41		0	0	1	0	0
PLEKHB2	55041	broad.mit.edu	37	2	132110631	132110631	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:132110631G>A	uc002tsh.2	+	6	1022	c.462G>A	c.(460-462)acG>acA	p.T154T				Q96CS7	PKHB2_HUMAN	Homo sapiens pleckstrin homology domain containing, family B (evectins) member 2 (PLEKHB2), transcript variant 2, mRNA.	0						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		ACACCACCACGAGTGCAAAAA	0.453000														41			9		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155448284	155448284	+	Silent	SNP	G	A	A	rs148724344		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155448284G>A	uc009wqq.3	-	2	4857	c.4377C>T	c.(4375-4377)ccC>ccT	p.P1459P	ASH1L_uc001fkt.3_Silent_p.P1459P|ASH1L_uc009wqr.1_Silent_p.P1459P	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1459					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	p.P1459P(2)		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)			TGGAAAGGAGGGGAGTCCTGC	0.478000														95			31		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807281	15807281	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15807281G>A	uc002nbl.3	+	11	1475	c.1356G>A	c.(1354-1356)ggG>ggA	p.G452G		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.									p.G452V(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ACAGCAAGGGGAGGTCACCTC	0.552000														170			49		0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24188277	24188277	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:24188277G>A	uc003ccz.4	-	7	941	c.421C>T	c.(421-423)Cca>Tca	p.P141S	THRB_uc010hfe.3_Missense_Mutation_p.P141S|THRB_uc003ccy.4_Missense_Mutation_p.P141S|THRB_uc003ccx.4_Missense_Mutation_p.P141S	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	141					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	GAATAGGATGGATGGAGATTT	0.358000														91			23		0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15323268	15323268	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:15323268C>T	uc002ktd.1	-	2		c.191G>A								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		TTAAACTTATCAACTGCAATT	0.299000														23			4		0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188592225	188592225	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:188592225C>T	uc003frs.2	+	10	2043	c.1797C>T	c.(1795-1797)gcC>gcT	p.A599A	LPP_uc011bsg.2_Silent_p.A452A|LPP_uc011bsi.2_Silent_p.A599A|LPP_uc011bsj.2_Silent_p.A436A	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	599	LIM zinc-binding 3.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	p.S598F(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GCAACTCTGCCCGCATCAGGG	0.512000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""									73			30		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91739130	91739130	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:91739130C>T	uc010aty.3	-	29	6080	c.5926G>A	c.(5926-5928)Ggg>Agg	p.G1976R	CCDC88C_uc001xzj.3_Missense_Mutation_p.G500R|CCDC88C_uc001xzi.3_Missense_Mutation_p.G426R	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1976					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCCGGAAGCCCCTCACTGCAG	0.711000														25			5		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394269	233394269	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233394269C>T	uc001hvl.2	-	4	1574	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	PCNXL2_uc009xfu.3_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.	447						integral to membrane		p.P446P(2)		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)				CCATTGCCTTCGGGACAGGGA	0.567000														93			55		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24581180	24581181	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:24581180_24581181CC>TT	uc011djo.2	-	6	1752_1753	c.1252_1253GG>AA	c.(1252-1254)gga>AAa	p.G418K	KIAA0319_uc011djp.2_Missense_Mutation_p.G373K|KIAA0319_uc003neh.1_Missense_Mutation_p.G418K|KIAA0319_uc011djq.1_Missense_Mutation_p.G409K|KIAA0319_uc011djr.1_Missense_Mutation_p.G418K|KIAA0319_uc010jpt.1_5'UTR	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	418	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ATTGACAAATCCTTCTCCAAAG	0.391000											OREG0017229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		139			40		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117691541	117691541	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117691541G>A	uc001twn.2	-	17	3363	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F	NOS1_uc021ren.1_Silent_p.F514F|NOS1_uc021reo.1_Silent_p.F514F|NOS1_uc001twm.2_Silent_p.F850F	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	850	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGACGCTGTTGAATCGGACCT	0.542000														69			10		0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151911	158151911	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158151911G>A	uc001frr.3	+	3	917	c.418G>A	c.(418-420)Gat>Aat	p.D140N	CD1D_uc009wsr.1_Missense_Mutation_p.D140N|CD1D_uc009wss.3_Missense_Mutation_p.D140N|CD1D_uc009wst.1_Missense_Mutation_p.D36N	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	140					T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCAAGGAAAAGATATCCTGAG	0.522000														278			15		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202272434	202272434	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:202272434G>A	uc001gxu.3	+	9	957	c.957G>A	c.(955-957)caG>caA	p.Q319Q	LGR6_uc001gxv.3_Silent_p.Q267Q|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.Q180Q|LGR6_uc009xac.1_Non-coding_Transcript	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	319						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGGACATCCAGGAGTTTCCAG	0.502000														73			6		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57596994	57596994	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57596994C>T	uc001snd.3	+	68	11208	c.10742C>T	c.(10741-10743)tCc>tTc	p.S3581F		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3581	LDL-receptor class A 27.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGTGAGTTCTCCTGTGCCAAC	0.667000														11			7		0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51563821	51563821	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51563821G>A	uc002pvn.3	-	1	151	c.108C>T	c.(106-108)ctC>ctT	p.L36L	KLK13_uc002pvl.3_Non-coding_Transcript|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Non-coding_Transcript|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Silent_p.L36L|KLK13_uc002pvq.3_Non-coding_Transcript|KLK13_uc010eoo.3_Intron|KLK13_uc002pvr.3_Silent_p.L36L	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA.	36	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		AGCCACCTGGGAGAAACCCAC	0.572000														89			53		0	0	1	0	0
SSX8	280659	broad.mit.edu	37	X	52654557	52654557	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:52654557C>T	uc011moa.1	+	2		c.359C>T			SSX8_uc011mob.1_Non-coding_Transcript					Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		TTTAGGCCTTCAATGATATTG	0.423000														26			6		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88420335	88420335	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:88420335C>T	uc001tam.1	-	2	231	c.63G>A	c.(61-63)gtG>gtA	p.V21V	C12orf50_uc001tan.3_Silent_p.V75V	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	21										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AGCTGATCTTCACACAACCAA	0.368000														78			7		0	0	1	0	0
UBQLN4	56893	broad.mit.edu	37	1	156018388	156018388	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156018388G>A	uc001fna.3	-	4	828	c.804C>T	c.(802-804)gcC>gcT	p.A268A	UBQLN4_uc010pgx.2_Silent_p.A248A	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	Homo sapiens ubiquilin 4 (UBQLN4), mRNA.	268						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGTTGCTCAGGGCCCGGTCCT	0.582000														52			28		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886862	3886862	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:3886862G>A	uc003bpt.4	+	1	1298	c.537G>A	c.(535-537)ttG>ttA	p.L179L	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.L179L	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	179						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCAACAAATTGAAAGTTATTG	0.383000														167			56		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348028	140348028	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140348028G>A	uc003lii.3	+	0	2282	c.1677G>A	c.(1675-1677)ctG>ctA	p.L559L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.L559L	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	559	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCACCACTGAGCAGCACTG	0.527000														75			26		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28650782	28650782	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28650782C>T	uc002kwl.4	-	13	2614	c.2160G>A	c.(2158-2160)ggG>ggA	p.G720G	DSC2_uc002kwk.4_Silent_p.G720G	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	720					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GTTTAGACGTCCCAGAAGCCC	0.388000														86			19		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53041993	53041993	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53041993C>T	uc001sat.3	-	4	1119	c.1086G>A	c.(1084-1086)agG>agA	p.R362R		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	362	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTTCCTTGCTCCTCTGGGCGA	0.582000														113			53		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66928483	66928483	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:66928483C>T	uc002jhq.3	-	6	1083	c.743G>A	c.(742-744)aGg>aAg	p.R248K	ABCA8_uc002jhp.3_Missense_Mutation_p.R248K|ABCA8_uc010wqq.2_Missense_Mutation_p.R248K|ABCA8_uc010wqr.2_Missense_Mutation_p.R187K|ABCA8_uc002jhr.3_Missense_Mutation_p.R248K|ABCA8_uc002jhs.3_Missense_Mutation_p.R248K|ABCA8_uc002jht.3_Missense_Mutation_p.R248K	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	248						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CATCCTTTTCCTCTCTCTTGT	0.388000														41			23		0	0	1	0	0
GFI1	2672	broad.mit.edu	37	1	92946183	92946183	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:92946183G>A	uc001dou.4	-	3	925	c.761C>T	c.(760-762)tCc>tTc	p.S254F	GFI1_uc001dov.4_Missense_Mutation_p.S254F|GFI1_uc001dow.4_Missense_Mutation_p.S254F	NM_001127215	NP_005254	Q99684	GFI1_HUMAN	Homo sapiens growth factor independent 1 transcription repressor (GFI1), transcript variant 2, mRNA.	254					negative regulation of NF-kappaB transcription factor activity|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		GCACTTGTAGGAGCCGCCGCC	0.716000														7			6		0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98209620	98209620	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:98209620G>A	uc004avk.4	-	22	4106	c.3918C>T	c.(3916-3918)ccC>ccT	p.P1306P	PTCH1_uc010mrn.3_Silent_p.P98P|PTCH1_uc010mro.3_Silent_p.P1155P|PTCH1_uc010mrp.3_Silent_p.P1155P|PTCH1_uc010mrq.3_Silent_p.P1155P|PTCH1_uc004avl.4_Silent_p.P1155P|PTCH1_uc004avm.4_Silent_p.P1305P|PTCH1_uc010mrr.3_Silent_p.P1240P	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1306					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.P1306S(1)|p.D1305Y(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTTCTCTGGGGGGGTCCCTGC	0.647000														63			28		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22749721	22749721	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22749721G>A	uc021wml.1	+	56		c.6405G>A								Parts of antibodies, mostly variable regions.																		ACCCCTGCCCGGTTCTCAGGC	0.547000														40			31		0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66479639	66479639	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:66479639G>A	uc003juy.2	-	2	1180	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	344					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TAAGGGAGGGGAAATTGGCAG	0.433000														142			56		0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203197680	203197680	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:203197680G>A	uc001gzn.2	-	1	132	c.36C>T	c.(34-36)gtC>gtT	p.V12V	CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Silent_p.V22V	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	12					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCATCAGCAGGACCATGAAAC	0.562000														11			4		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17361191	17361191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17361191C>T	uc002nfs.1	-	12	2068	c.1955G>A	c.(1954-1956)cGg>cAg	p.R652Q	USHBP1_uc002nfr.1_Missense_Mutation_p.R278Q|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.R588Q	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	652							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TTCCTGCTTCCGGTGGGCTCC	0.667000														46			23		0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71602047	71602047	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71602047C>T	uc002fap.2	-	11	1464	c.1365G>A	c.(1363-1365)taG>taA	p.*455*		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	0					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	GGATGCAGGCCTATTTATCAC	0.597000														59			17		0	0	1	0	0
KANK3	256949	broad.mit.edu	37	19	8397899	8397899	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8397899C>T	uc010dwa.3	-	7	2002	c.1936_splice	c.e7+1	p.G646_splice	KANK3_uc002mjp.1_Missense_Mutation_p.G191R	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	646										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GGCTCTGACCCGTATCCAGGA	0.632000														14			4		0	0	1	0	0
KLRK1	22914	broad.mit.edu	37	12	10531183	10531183	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10531183G>A	uc009zhj.3	-	5	576	c.399C>T	c.(397-399)agC>agT	p.S133S	AK096314_uc001qya.1_Intron|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Silent_p.S133S|KLRK1_uc009zhk.3_Silent_p.S133S|KLRK1_uc001qyd.3_Silent_p.S133S	NM_007360	NP_001186734	P26718	NKG2D_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.	133	C-type lectin.				T cell costimulation|natural killer cell activation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						CTTTCAGAAGGCTGGCATTTT	0.353000														61			39		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584297	88584297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:88584297C>T	uc003hqv.3	+	5	1471	c.1367C>T	c.(1366-1368)tCt>tTt	p.S456F	DMP1_uc003hqw.3_Missense_Mutation_p.S440F	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	456					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GACAGTGACTCTCAAGACAGC	0.522000														59			16		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123193527	123193527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:123193527C>T	uc003ieh.3	+	45	8458	c.8413C>T	c.(8413-8415)Cat>Tat	p.H2805Y	KIAA1109_uc003iel.1_Missense_Mutation_p.H740Y|KIAA1109_uc003iek.2_Missense_Mutation_p.H1424Y	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2805					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GAAGAGGATCCATGGCAGTTT	0.363000														56			18		0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107978025	107978025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:107978025G>A	uc004eoc.2	-	0	1583	c.1550C>T	c.(1549-1551)tCg>tTg	p.S517L		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	517						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTTTCCTCCCGAGCTATGGCT	0.597000														61			40		0	0	1	0	0
AAK1	22848	broad.mit.edu	37	2	69736497	69736497	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:69736497G>A	uc002sfp.2	-	13	2377	c.1872C>T	c.(1870-1872)tcC>tcT	p.S624S	AAK1_uc010fdk.2_Silent_p.S624S|AAK1_uc010yqm.1_Silent_p.S625S	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	Homo sapiens AP2 associated kinase 1 (AAK1), mRNA.	624						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GGGTTTTGGGGGATGAGGGTG	0.567000														61			6		0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28547306	28547306	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:28547306C>T	uc003szq.3	+	3	632	c.242C>T	c.(241-243)tCc>tTc	p.S81F	CREB5_uc003szo.3_Missense_Mutation_p.S48F|CREB5_uc003szr.3_Missense_Mutation_p.S74F	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	81					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CTGGACTGCTCCCTGGAGCAC	0.552000														151			58		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72937552	72937552	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72937552G>A	uc010wrr.2	+	1	138	c.138G>A	c.(136-138)aaG>aaA	p.K46K	OTOP3_uc010wrq.2_Silent_p.K28K	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	46						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CCCCGGAGAAGGAGAACCGAG	0.642000														15			6		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33521168	33521168	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:33521168G>A	uc002hjd.2	-	0	245	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	53	DUF6 1.					integral to membrane		p.F53F(1)									GGGGGCCCACGAAGCCAGCAG	0.667000														38			30		0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50736487	50736487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50736487G>A	uc001jhs.4	-	3	782	c.628C>T	c.(628-630)Cac>Tac	p.H210Y	ERCC6_uc009xoe.3_Missense_Mutation_p.H210Y|ERCC6_uc001jhu.3_Missense_Mutation_p.H210Y	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	210					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGACTGGCGTGATCTAGTTCA	0.458000								Direct reversal of damage;Nucleotide excision repair (NER)						71			24		0	0	1	0	0
FOXL1	2300	broad.mit.edu	37	16	86612425	86612425	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:86612425C>T	uc002fjr.3	+	0	311	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	Homo sapiens forkhead box L1 (FOXL1), mRNA.	32					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of Wnt receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA 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			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CTCTGGCCTTCGCCCCCGCGG	0.692000														58			13		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3656589	3656589	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3656589C>T	uc002fwo.4	-	13	1762	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	555					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCCACCTGCTCGCTGAGACGG	0.572000														12			6		0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96421285	96421285	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:96421285G>A	uc001ten.1	-	2	416	c.348C>T	c.(346-348)ctC>ctT	p.L116L	LTA4H_uc010suy.1_Silent_p.L78L|LTA4H_uc010suz.1_Silent_p.L78L|LTA4H_uc010sva.1_Intron	NM_000895	NP_000886	P09960	LKHA4_HUMAN	Homo sapiens leukotriene A4 hydrolase (LTA4H), mRNA.	116					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	p.A115A(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TGAGCCACTGGAGAGCAGAAG	0.368000														78			14		0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68156997	68156997	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:68156997C>T	uc002evo.2	+	1	1527	c.1211C>T	c.(1210-1212)cCa>cTa	p.P404L	NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Missense_Mutation_p.P404L|NFATC3_uc002evm.2_Missense_Mutation_p.P404L|NFATC3_uc002evn.2_Missense_Mutation_p.P404L|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	404					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TGGAGCAAACCAAAGCCTGGC	0.413000														124			28		0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376633	8376633	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8376633C>T	uc001qui.2	-	4	861	c.302G>A	c.(301-303)gGa>gAa	p.G101E	FAM90A1_uc001quh.2_Missense_Mutation_p.G101E	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	101							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TTCCTTCTCTCCCTTATCCTT	0.537000														143			58		0	0	1	0	0
EBI3	10148	broad.mit.edu	37	19	4234802	4234802	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4234802G>A	uc002lzu.3	+	3	526	c.518G>A	c.(517-519)gGa>gAa	p.G173E		NM_005755	NP_005746	Q14213	IL27B_HUMAN	Homo sapiens Epstein-Barr virus induced 3 (EBI3), mRNA.	173	Fibronectin type-III 2.				T-helper 1 type immune response|humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGCGTCAGGGAGCTGCGCGC	0.612000														134			52		0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180365995	180365995	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:180365995C>T	uc010hxe.3	-	9	1435	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	440					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTCAAAATCCAGTTTTTGTA	0.343000														46			13		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103126831	103126831	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:103126831G>A	uc022ajr.1	-	60	9956	c.9796C>T	c.(9796-9798)Ccc>Tcc	p.P3266S	RELN_uc022ajq.1_Missense_Mutation_p.P3266S|RELN_uc010liz.3_Missense_Mutation_p.P3266S|RN7SK_uc022ajs.1_5'Flank	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3266					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	p.L3265F(1)		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)		ATATAACTGGGAAGGTCGTGA	0.463000														53			23		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600728	29600728	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29600728C>T	uc001usl.4	+	0	1981	c.1923C>T	c.(1921-1923)ccC>ccT	p.P641P		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	631	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAACTAAGCCCATCATTATGC	0.542000														37			4		0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25043497	25043497	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:25043497C>T	uc001wpq.3	-	3	585	c.548G>A	c.(547-549)aGg>aAg	p.R183K		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	183	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.R182R(1)|p.R182Q(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		ACAAATCTGCCTTCGGGGGTC	0.622000														31			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064856	9064856	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9064856C>T	uc002mkp.3	-	2	22794	c.22590G>A	c.(22588-22590)agG>agA	p.R7530R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7532	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7529T(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						ACTGAATTTTCCTAGTGTTAG	0.473000														70			26		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155790444	155790444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155790444G>A	uc001flz.2	-	5	1064	c.967C>T	c.(967-969)Cct>Tct	p.P323S	GON4L_uc001fly.1_Missense_Mutation_p.P323S|GON4L_uc009wrh.1_Missense_Mutation_p.P323S|GON4L_uc001fma.1_Missense_Mutation_p.P323S|GON4L_uc001fmc.3_Missense_Mutation_p.P323S|GON4L_uc001fmd.4_Missense_Mutation_p.P323S|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Missense_Mutation_p.P151S|GON4L_uc001fmf.3_Missense_Mutation_p.P17S	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	323					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTCATTTTAGGCTCCTAAGGA	0.393000														57			21		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1891351	1891351	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1891351G>A	uc002qxe.3	-	16	3378	c.2551C>T	c.(2551-2553)Cta>Tta	p.L851L	MYT1L_uc002qxd.3_Silent_p.L849L|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	851					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTTTCTTCTAGAGCCTCCTGG	0.527000														140			27		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66937441	66937441	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:66937441C>T	uc004dwu.2	+	4	3410	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F	AR_uc022byk.1_Intron|AR_uc004dwv.2_Silent_p.F233F	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	764	Interaction with MYST2.|Ligand-binding.		A -> T (in AIS; loss of androgen binding).|A -> V (in AIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TGCTCTACTTCGCCCCTGATC	0.542000									Androgen Insensitivity Syndrome					19			24		0	0	1	0	0
LANCL2	55915	broad.mit.edu	37	7	55467766	55467766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55467766C>T	uc003tqp.3	+	3	1225	c.647C>T	c.(646-648)cCa>cTa	p.P216L		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.	216					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|GTP binding|catalytic activity|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GAGATAGGTCCAGGCACCGTG	0.463000														116			39		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6520073	6520073	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6520073G>A	uc001amy.3	+	12	2600	c.2432G>A	c.(2431-2433)cGa>cAa	p.R811Q	ESPN_uc001amz.3_Missense_Mutation_p.R245Q	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	811	Glu-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GAGGAGGAGCGACAGAAGCAG	0.662000														29			8		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48609816	48609816	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48609816C>T	uc003ctz.2	-	88	6976	c.6975G>A	c.(6973-6975)gaG>gaA	p.E2325E		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2325	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACTTACCGGCTCACCCACCA	0.597000														84			36		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150416156	150416156	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150416156G>A	uc003whq.3	+	1	161	c.21G>A	c.(19-21)gcG>gcA	p.A7A	GIMAP1-GIMAP5_uc022apw.1_Silent_p.A7A	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GGAAGATGGCGACAGATGAAG	0.413000														94			43		0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84777114	84777114	+	Missense_Mutation	SNP	G	A	A	rs148362906	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:84777114G>A	uc010fgb.3	+	8	1555	c.1418G>A	c.(1417-1419)cGa>cAa	p.R473Q	DNAH6_uc002soo.3_Missense_Mutation_p.R52Q|DNAH6_uc002sop.3_Missense_Mutation_p.R52Q	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	473	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AAGCTAAAACGAACACCTTCA	0.348000														40			15		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79060533	79060533	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:79060533G>A	uc002bej.4	-	16	2798	c.2587C>T	c.(2587-2589)Ccc>Tcc	p.P863S	ADAMTS7_uc010und.1_Missense_Mutation_p.P439S	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	863	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGGCCCAGGGGGTCACAGTGC	0.697000														11			10		0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94847297	94847297	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94847297G>A	uc001ycy.4	-	4	1382	c.828C>T	c.(826-828)ttC>ttT	p.F276F	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Silent_p.F276F|SERPINA1_uc010auy.3_Silent_p.F276F|SERPINA1_uc001ycz.4_Silent_p.F276F|SERPINA1_uc010auz.3_Silent_p.F276F|SERPINA1_uc010ava.3_Silent_p.F276F|SERPINA1_uc001ydb.4_Silent_p.F276F|SERPINA1_uc010avb.3_Silent_p.F276F|SERPINA1_uc001ydc.4_Silent_p.F276F|SERPINA1_uc010auw.3_Silent_p.F276F|SERPINA1_uc010aux.3_Silent_p.F276F|SERPINA1_uc001yda.1_Silent_p.F276F	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	276					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	CAGGCAGGAAGAAGATGGCGG	0.483000														69			38		0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30268851	30268851	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:30268851G>A	uc022buh.1	+	0	241	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	MAGEB1_uc004dcc.3_Missense_Mutation_p.E81K|MAGEB1_uc004dcd.3_Missense_Mutation_p.E81K|MAGEB1_uc004dce.3_Missense_Mutation_p.E81K	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	81										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CGAATCTGACGAAGGTGCCAA	0.557000														5			3		0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10870427	10870427	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10870427C>T	uc002mpt.2	+	1	365	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Missense_Mutation_p.R59C|DNM2_uc010dxl.2_Missense_Mutation_p.R59C|DNM2_uc002mpu.2_Missense_Mutation_p.R59C|DNM2_uc002mpv.2_Missense_Mutation_p.R59C	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	59					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTTCCTTCCCCGCGGTTCAGG	0.567000			"""F, N, Splice, Mis, O"""		ETP ALL									236			47		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77666836	77666836	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:77666836T>G	uc011bgk.2	+	22	4121	c.3478T>G	c.(3478-3480)Tcc>Gcc	p.S1160A	ROBO2_uc021xat.1_Missense_Mutation_p.S1172A|ROBO2_uc003dpy.4_Missense_Mutation_p.S1156A|ROBO2_uc003dpz.3_Missense_Mutation_p.S1160A|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.S283A	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1156					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCTTACTCCATCCCCACGGGA	0.488000														90			13		0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201355640	201355640	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201355640C>T	uc001gwm.3	-	2	1084	c.849G>A	c.(847-849)agG>agA	p.R283R	LAD1_uc009wzu.1_Silent_p.R305R	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	283						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						AGGCTGTGGCCCTCTTTGGGG	0.632000														110			31		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769835	37769836	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37769835_37769836GG>AA	uc003asq.4	-	2	2525_2526	c.1739_1740CC>TT	c.(1738-1740)tcc>tTT	p.S580F	ELFN2_uc021wph.1_Missense_Mutation_p.S580F	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	580						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CTGCAGGGAGGGACTGGCACTC	0.653000														24			11		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90139424	90139424	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:90139424C>T	uc010yts.2	+	30		c.3482C>T								Parts of antibodies, mostly variable regions.																		CAGAGAAAGCCCCTAAGTCCC	0.522000														231			43		0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154303543	154303543	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154303543C>T	uc001fex.3	+	4	323	c.323C>T	c.(322-324)tCc>tTc	p.S108F	ATP8B2_uc001few.3_Missense_Mutation_p.S75F|ATP8B2_uc001fey.1_Missense_Mutation_p.S94F	NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	94					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S107F(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGATCTCTTCCCTGTCCTGG	0.458000														75			17		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39447062	39447062	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:39447062G>A	uc001uwv.3	+	16	8476	c.8167G>A	c.(8167-8169)Gaa>Aaa	p.E2723K		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2723					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCAGAGGCTGAACTTCAAGG	0.403000														57			18		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799018	5799018	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5799018G>A	uc010qzn.2	-	0	880	c.847C>T	c.(847-849)Cac>Tac	p.H283Y	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACAATGATGTGAAGAGAAGGG	0.423000														14			24		0	0	1	0	0
WIPF3	644150	broad.mit.edu	37	7	29924036	29924037	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:29924036_29924037CC>TT	uc022aaz.1	+	4	1108_1109	c.926_927CC>TT	c.(925-927)ccc>cTT	p.P309L	WIPF3_uc003taj.2_Missense_Mutation_p.P309L	NM_001080529	NP_001073998	B8ZZV2	B8ZZV2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 3 (WIPF3), mRNA.	309								p.P309H(2)		breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						GCTTCTTTGCCCGCGCCCCCTT	0.683000														7			5		0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109489954	109489954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:109489954C>T	uc002ten.1	+	13	1801	c.1741C>T	c.(1741-1743)Cgt>Tgt	p.R581C	CCDC138_uc002teo.1_Intron|CCDC138_uc002tep.1_Missense_Mutation_p.R265C|CCDC138_uc010fjm.1_Intron	NM_144978	NP_659415	Q96M89	CC138_HUMAN	Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.	581										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TTTATTTTTTCGTACTTGCTC	0.368000														87			42		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256720	52256720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52256720C>T	uc003ddb.3	-	4	2113	c.1903G>A	c.(1903-1905)Gag>Aag	p.E635K	TLR9_uc003dda.2_Missense_Mutation_p.E538K	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	538					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AATGAGTGCTCGTGGTAGAGG	0.602000														42			12		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101493479	101493479	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	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)				28			49		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424093	125424093	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125424093C>T	uc022bmz.1	+	0	99	c.99C>T	c.(97-99)ccC>ccT	p.P33P		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TGTTCCTCCCCATCTACCTTA	0.493000														74			9		0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160277257	160277257	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:160277257C>T	uc003iqg.4	+	22	4731	c.4421C>T	c.(4420-4422)tCt>tTt	p.S1474F		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	1474					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CCGAACGAGTCTGACCCGCGC	0.537000														33			15		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190805	209190805	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:209190805C>T	uc002vcz.3	+	19	3428	c.3270C>T	c.(3268-3270)ctC>ctT	p.L1090L	PIKFYVE_uc010fun.1_Silent_p.L771L|PIKFYVE_uc002vcy.1_Silent_p.L1034L	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	1090					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGTCTCCTCTCCTCAATAAAG	0.448000														84			27		0	0	1	0	0
PMP2	5375	broad.mit.edu	37	8	82357106	82357107	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:82357106_82357107GG>AA	uc003ycb.1	-	1	289_290	c.191_192CC>TT	c.(190-192)tcc>tTT	p.S64F	PMP2_uc010lzv.1_Intron	NM_002677	NP_002668	P02689	MYP2_HUMAN	Homo sapiens peripheral myelin protein 2 (PMP2), mRNA.	64						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			CTAGCTTGAAGGAGATTTCTGT	0.391000														78			9		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328824	57328824	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57328824C>T	uc002qnu.2	-	6	1337	c.986G>A	c.(985-987)gGa>gAa	p.G329E	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G300E|PEG3_uc002qnv.2_Missense_Mutation_p.G329E|PEG3_uc002qnw.2_Missense_Mutation_p.G205E|PEG3_uc002qnx.2_Missense_Mutation_p.G203E|PEG3_uc010etr.2_Missense_Mutation_p.G329E	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	329					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G329R(1)|p.S328*(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTTGCTCTTCCCGATTTGGA	0.468000														68			15		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178553105	178553105	+	Missense_Mutation	SNP	G	A	A	rs145330384		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178553105G>A	uc003mjw.3	-	17	2746	c.2644C>T	c.(2644-2646)Cgc>Tgc	p.R882C		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	882	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGCCTCCGGCGGCAGCCATAC	0.657000														89			39		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22205510	22205510	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22205510G>A	uc009vqd.3	-	17	2491	c.2451C>T	c.(2449-2451)tgC>tgT	p.C817C	HSPG2_uc001bfj.3_Silent_p.C816C	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	816	Laminin EGF-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGATGTATGGGCAAGGGCAGG	0.647000														27			19		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109629448	109629448	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:109629448C>T	uc001tob.3	+	13	2294	c.2175C>T	c.(2173-2175)tcC>tcT	p.S725S	ACACB_uc001toc.3_Silent_p.S725S	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	725	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGGAACTGTCCATCCGAGGCG	0.488000														82			16		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100680818	100680818	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100680818G>A	uc003uxp.1	+	2	6174	c.6121G>A	c.(6121-6123)Gaa>Aaa	p.E2041K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2041	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.E2041K(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTAGTGAACGGACCAC	0.498000														223			76		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108175647	108175647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108175647G>A	uc003dxa.1	-	19	2221	c.2164C>T	c.(2164-2166)Cca>Tca	p.P722S		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	722	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						AGTCGGTTTGGAAAACCTTCA	0.438000														178			13		0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14306614	14306614	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:14306614G>A	uc021war.1	-	0	1539	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Silent_p.L513L|FLRT3_uc002wow.2_Silent_p.L513L	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	513					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GCTCTCGATTGAGGGTGGTTG	0.468000														120			23		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20959375	20959375	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:20959375G>A	uc009yid.3	+	10	1278	c.1125G>A	c.(1123-1125)cgG>cgA	p.R375R	NELL1_uc010rdp.2_Silent_p.R107R|NELL1_uc001mqe.3_Silent_p.R347R|NELL1_uc001mqf.3_Silent_p.R347R|NELL1_uc010rdo.2_Silent_p.R290R	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	347	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AAGGCCAGCGGATTTTAACCA	0.408000														78			29		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138566163	138566163	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:138566163G>A	uc011kql.2	-	10	4249	c.4200C>T	c.(4198-4200)atC>atT	p.I1400I	KIAA1549_uc011kqi.2_Silent_p.I184I|KIAA1549_uc011kqk.2_Silent_p.I184I|KIAA1549_uc011kqj.2_Silent_p.I1400I	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1400						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCTTGGAAGGGATCTTTGACT	0.473000			O	BRAF	pilocytic astrocytoma									71			32		0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53345105	53345105	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53345105G>A	uc002qaf.3	-	3	593	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	ZNF468_uc002qae.3_Silent_p.L95L|ZNF468_uc021uzb.1_Silent_p.L95L	NM_001008801	NP_954583	Q5VIY5	ZN468_HUMAN	Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA.	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		GGTTCAGGCAGATGCAAATGA	0.403000														309			30		0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92647601	92647601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:92647601C>T	uc002bqx.2	+	3	1039	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F	SLCO3A1_uc002bqy.2_Missense_Mutation_p.L280F|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.L222F	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	280					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CTTCTCTTCCCTCTTGATGTT	0.577000														225			12		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179342	55179342	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55179342C>T	uc002qgp.3	+	11	1581	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	LILRB4_uc002qgq.3_Missense_Mutation_p.P406S|LILRB4_uc010ert.3_Missense_Mutation_p.P448S|LILRB4_uc010eru.3_Missense_Mutation_p.P437S	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.	407						integral to membrane|plasma membrane	antigen binding|receptor activity	p.P407S(2)		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)		ATCTGAAGCCCCCCAGGATGT	0.647000														102			27		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149884829	149884829	+	Silent	SNP	G	A	A	rs144646284	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:149884829G>A	uc001etg.3	-	1	1055	c.564C>T	c.(562-564)ttC>ttT	p.F188F	SV2A_uc001eth.2_Silent_p.F188F	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	188					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGGGCAGCACGAAGCCCACCA	0.582000														100			29		0	0	1	0	0
MAOA	4128	broad.mit.edu	37	X	43571967	43571967	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:43571967C>T	uc004dfy.3	+	4	608	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	MAOA_uc011mkw.2_Missense_Mutation_p.P10S	NM_000240	NP_000231	P21397	AOFA_HUMAN	Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA.	143					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	AACTGATGCACCCTGGGAGGC	0.453000														13			17		0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50252883	50252883	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:50252883G>A	uc003cyn.4	+	4	503	c.362G>A	c.(361-363)gGg>gAg	p.G121E	SLC38A3_uc011bdl.2_Intron|SLC38A3_uc011bdm.2_Missense_Mutation_p.G53E	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	122					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	AAGTCCTCAGGGGTCGTGGGT	0.582000														87			18		0	0	1	0	0
PDGFB	5155	broad.mit.edu	37	22	39629528	39629528	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:39629528C>T	uc003axf.3	-	3	1150	c.161_splice	c.e3-1	p.E54_splice	PDGFB_uc003axe.3_Splice_Site_p.E39_splice	NM_002608	NP_002599	P01127	PDGFB_HUMAN	Homo sapiens platelet-derived growth factor beta polypeptide (PDGFB), transcript variant 1, mRNA.	54					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	Golgi membrane|basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	CCCCATCTTCCTCTGCAGGAG	0.652000			T	COL1A1	DFSP									62			23		0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97464925	97464925	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:97464925C>T	uc002swx.3	+	3	1911	c.1813C>T	c.(1813-1815)Cga>Tga	p.R605*	CNNM4_uc010yuy.2_Nonsense_Mutation_p.R92*	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	605					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CCTGTACACCCGAAATAAGCC	0.577000														79			21		0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170610362	170610362	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:170610362C>T	uc003mba.3	+	17	2108	c.1966C>T	c.(1966-1968)Cat>Tat	p.H656Y	RANBP17_uc003mbb.3_5'UTR|RANBP17_uc003mbd.3_Missense_Mutation_p.H19Y|RANBP17_uc010jjs.3_Non-coding_Transcript|RANBP17_uc003mbc.3_Missense_Mutation_p.H19Y	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	656					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGTGACAATCATAGTCTCAG	0.388000			T	TRD@	ALL									70			31		0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310178	124310178	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124310178C>T	uc010sal.2	-	0	804	c.804G>A	c.(802-804)atG>atA	p.M268I		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		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;0.0277)		TGCCCTGGTTCATAGCTAAAA	0.453000														48			25		0	0	1	0	0
VN1R5	317705	broad.mit.edu	37	1	247420072	247420072	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247420072T>A	uc010pyu.2	+	1	696	c.696T>A	c.(694-696)ccT>ccA	p.P232P		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	233					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			TTCATGGTCCTCTCAAGAGGC	0.458000														148			79		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19426254	19426254	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19426254C>T	uc010tcj.1	-	0		c.19856G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTCTTCTTTTCATTGCCTAGG	0.383000														21			5		0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49395053	49395053	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49395053G>A	uc021wxw.1	-	1	460	c.380C>T	c.(379-381)gCc>gTc	p.A127V	GPX1_uc021wxx.1_3'UTR	NM_000581	NP_000572	P07203	GPX1_HUMAN	Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA.	127					UV protection|anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion	cytosol|mitochondrion	SH3 domain binding|endopeptidase inhibitor activity|glutathione peroxidase activity			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CCGCAGGAAGGCGAAGAGAGG	0.632000														51			27		0	0	1	0	0
CLCN3	1182	broad.mit.edu	37	4	170618355	170618355	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:170618355C>T	uc003ish.3	+	8	1592	c.1033C>T	c.(1033-1035)Cct>Tct	p.P345S	CLCN3_uc003isi.3_Missense_Mutation_p.P345S|CLCN3_uc011cka.2_Missense_Mutation_p.P318S|CLCN3_uc011cjz.2_Missense_Mutation_p.P328S|CLCN3_uc003isj.2_Missense_Mutation_p.P318S	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	345					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CTATTATTTTCCTCTCAAAAC	0.294000														64			35		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219883777	219883777	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219883777C>T	uc002vjl.1	-	20	3682	c.3598G>A	c.(3598-3600)Gac>Aac	p.D1200N	CCDC108_uc002vjm.3_Missense_Mutation_p.D85N	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1200						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCATACCAGTCCAGGGACACC	0.602000														188			15		0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68208743	68208743	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:68208743G>A	uc003xxo.2	-	4	952	c.562C>T	c.(562-564)Ctc>Ttc	p.L188F		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	188					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGATTGATGAGATTTTTGCTT	0.373000														101			9		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70890760	70890760	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:70890760C>T	uc021vjc.1	-	15	2243	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_3'UTR|ADD2_uc002sgz.3_Missense_Mutation_p.E660K	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	660					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTGAGGATTTCCTCTGCCGTC	0.577000														99			56		0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115439652	115439652	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:115439652G>A	uc003ebr.2	+	3	1422	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	GAP43_uc003ebq.2_Missense_Mutation_p.E214K	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	214					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AGCTGTAGATGAAACCAAACC	0.433000														270			112		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179501469	179501469	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179501469C>T	uc021vsy.1	-	173	33506	c.33281G>A	c.(33280-33282)gGa>gAa	p.G11094E	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G4789E|TTN_uc021vta.1_Missense_Mutation_p.G4722E|TTN_uc021vtb.1_Missense_Mutation_p.G4597E|TTN_uc010fre.1_Missense_Mutation_p.G955E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12021	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G11093G(1)		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)			TCCACCACTTCCTGGCCTTAA	0.423000														57			24		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124401062	124401062	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124401062G>A	uc001uft.4	+	61	10452	c.10427G>A	c.(10426-10428)gGg>gAg	p.G3476E		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3476	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATAAAGTACGGGACCCCTTTC	0.453000														113			16		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123332988	123332988	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:123332988C>T	uc003ego.3	-	33	5991	c.5709G>A	c.(5707-5709)gaG>gaA	p.E1903E	MYLK-AS1_uc003egk.3_Intron|MYLK_uc003egl.3_Silent_p.E143E|MYLK_uc003egm.3_Silent_p.E142E|MYLK_uc010hrr.3_Silent_p.E338E|MYLK_uc011bjv.2_Silent_p.E703E|MYLK_uc011bjw.2_Silent_p.E1902E|MYLK_uc003egp.3_Silent_p.E1834E|MYLK_uc003egq.3_Silent_p.E1852E|MYLK_uc003egr.3_Silent_p.E1783E|MYLK_uc003egs.3_Silent_p.E1727E	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1903					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTCACCTTCCTCCATCGTTT	0.458000														292			32		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83675644	83675644	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:83675644G>A	uc003uhz.3	-	5	978	c.663C>T	c.(661-663)ctC>ctT	p.L221L		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	221	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACCTACCATTGAGCCACCTGG	0.423000														113			53		0	0	1	0	0
RASL11A	387496	broad.mit.edu	37	13	27847352	27847352	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:27847352C>T	uc001urd.1	+	3	1068	c.450C>T	c.(448-450)gaC>gaT	p.D150D		NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	Homo sapiens RAS-like, family 11, member A (RASL11A), mRNA.	150	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		ACAAGGGGGACCTTTTGCATG	0.532000														42			19		0	0	1	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84872160	84872160	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84872160C>T	uc010voh.1	+	1	286	c.59C>T	c.(58-60)tCc>tTc	p.S20F	CRISPLD2_uc010vog.1_Missense_Mutation_p.S20F|CRISPLD2_uc002fik.4_Missense_Mutation_p.S20F|CRISPLD2_uc002fil.2_Missense_Mutation_p.S20F|CRISPLD2_uc002fim.2_Missense_Mutation_p.S20F|CRISPLD2_uc002fin.4_Missense_Mutation_p.S20F	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA.	20						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GTCTGCGGATCCCAAGGCTAC	0.617000														86			30		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43226909	43226909	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43226909C>T	uc003ouq.1	+	10	1429	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	384						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGGGCTGGGCCCCAGTCCCCA	0.627000														75			20		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68696733	68696733	+	Silent	SNP	C	T	T	rs145314949	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:68696733C>T	uc001ook.1	+	7	1245	c.1143C>T	c.(1141-1143)ctC>ctT	p.L381L	IGHMBP2_uc001ooj.1_Non-coding_Transcript|IGHMBP2_uc001ool.1_5'Flank	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	381	Leu-rich.				DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCCAGGCCCTCGAGGCGAGCT	0.627000														85			24		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43221192	43221192	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:43221192C>T	uc002lbe.3	+	7	1826	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L	SLC14A2_uc002lbb.3_Missense_Mutation_p.P337L|SLC14A2_uc010dnj.3_Missense_Mutation_p.P337L	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	337						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGGCCACACCCTTCGAGACC	0.572000														42			19		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168093495	168093495	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:168093495C>T	uc010jjg.3	-	35	4977	c.4557G>A	c.(4555-4557)gaG>gaA	p.E1519E	SLIT3_uc003mab.3_Silent_p.E1512E	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1512	CTCK.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTAAGTGTCTCTCCACCTCTT	0.642000														18			6		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3889591	3889591	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:3889591C>T	uc022aqr.1	-	3	836	c.446G>A	c.(445-447)gGa>gAa	p.G149E		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	149	Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGATTTCTCCAGGATTTCC	0.418000														45			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085734	9085734	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9085734G>A	uc002mkp.3	-	0	6285	c.6081C>T	c.(6079-6081)tcC>tcT	p.S2027S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2027	Ser-rich.|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						AATATGGAGAGGATGTGCTGC	0.483000														71			17		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018779	14018779	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:14018779G>A	uc001rbt.2	-	1	543	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	122					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCAGGATGGGGGTGAGAGTC	0.547000														133			60		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106368637	106368637	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106368637C>T	uc021ser.1	-	3566		c.55317_splice	c.e3566-1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron					Parts of antibodies, mostly variable regions.																		GCCAGGGGCCCCCAGGACTGG	0.652000														20			6		0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711684	20711684	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20711684G>A	uc010tld.2	+	0	734	c.734G>A	c.(733-735)aGa>aAa	p.R245K		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		GCTGGTCGGAGAAAAGCCTTC	0.433000														379			45		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142612703	142612703	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142612703C>T	uc003wby.1	-	8	1422	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	386					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.L386L(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCTCCCCCACCAGCCTGATGA	0.537000														38			12		0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	131009728	131009728	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131009728C>T	uc022bob.1	+	16	1943	c.1856C>T	c.(1855-1857)tCc>tTc	p.S619F	DNM1_uc022bny.1_Missense_Mutation_p.S619F|DNM1_uc022bnz.1_3'UTR|DNM1_uc022boa.1_3'UTR|DNM1_uc004bub.1_5'UTR|DNM1_uc004buc.1_Missense_Mutation_p.S86F|MIR199B_uc004bue.1_5'Flank|MIR3154_uc022boc.1_5'Flank	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	619	PH.				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TGGAAGGCCTCCTTCCTGAGG	0.607000														21			6		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49219119	49219119	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:49219119G>A	uc010zyt.2	-	12	1400	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Silent_p.I379I|FAM65C_uc002xvn.1_Silent_p.I379I	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	379										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						GGTAGCTGAGGATGGAGGTGG	0.647000														78			6		0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74600939	74600939	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:74600939A>G	uc003xzm.3	-	4	565	c.224T>C	c.(223-225)cTt>cCt	p.L75P	STAU2_uc011lfh.2_Intron|STAU2_uc003xzn.3_Missense_Mutation_p.L43P|STAU2_uc011lfg.2_Intron|STAU2_uc003xzo.3_Missense_Mutation_p.L75P|STAU2_uc003xzq.3_Intron|STAU2_uc003xzp.3_Missense_Mutation_p.L43P|STAU2_uc011lfi.2_Missense_Mutation_p.L37P|STAU2_uc010lzk.3_Missense_Mutation_p.L43P|STAU2_uc010lzl.1_Intron|STAU2_uc003xzs.3_Missense_Mutation_p.L43P|STAU2_uc003xzr.3_Missense_Mutation_p.L37P	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	75	DRBM 1.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TGGTTTGGGAAGCGTAGATTC	0.463000														205			40		0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079766	31079766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31079766C>T	uc003nsk.1	-	1	370	c.370G>A	c.(370-372)Gag>Aag	p.E124K	PSORS1C1_uc003nsl.2_5'Flank|PSORS1C1_uc010jsj.2_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	124								p.E124*(2)		endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						AGGCGGTCCTCAGCCGCAGCA	0.652000														60			13		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8182167	8182167	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8182167C>T	uc002mjf.3	-	26	3489	c.3472G>A	c.(3472-3474)Gaa>Aaa	p.E1158K		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1158	EGF-like 16; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACCCGGCATTCGTTGATGTCT	0.642000														29			7		0	0	1	0	0
TMEM98	26022	broad.mit.edu	37	17	31261321	31261321	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:31261321C>T	uc002hhq.3	+	4	734	c.276C>T	c.(274-276)tcC>tcT	p.S92S	TMEM98_uc002hhr.3_Silent_p.S92S	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	Homo sapiens transmembrane protein 98 (TMEM98), transcript variant 1, mRNA.	92						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			GTCTCATGTCCCACTGCATTG	0.537000														56			7		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13613147	13613147	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:13613147G>A	uc011avc.2	+	1	1674	c.1292G>A	c.(1291-1293)aGa>aAa	p.R431K	FBLN2_uc011auz.2_Missense_Mutation_p.R457K|FBLN2_uc011avb.2_Missense_Mutation_p.R431K|FBLN2_uc011ava.2_Missense_Mutation_p.R431K	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	431	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TCTATCCCCAGAAGTAGCCCT	0.612000														15			7		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48606480	48606480	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48606480C>T	uc010wmr.2	+	17	2946	c.2784C>T	c.(2782-2784)atC>atT	p.I928I	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	891					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCCCTGACATCATCCTCTCTT	0.517000														47			21		0	0	1	0	0
CEBPE	1053	broad.mit.edu	37	14	23588189	23588189	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23588189C>T	uc001wiv.2	-	0	632	c.112G>A	c.(112-114)Gcc>Acc	p.A38T		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE), mRNA.	38						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TCAATGGAGGCCTCATGCTCA	0.642000														94			21		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92442776	92442776	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:92442776G>A	uc001dol.4	+	6	1213	c.795G>A	c.(793-795)aaG>aaA	p.K265K	BRDT_uc010osz.2_Silent_p.K269K|BRDT_uc001dok.4_Silent_p.K265K|BRDT_uc009wdf.3_Silent_p.K192K|BRDT_uc010otb.2_Silent_p.K219K|BRDT_uc010ota.2_Silent_p.K219K|BRDT_uc001dom.4_Silent_p.K265K	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	265				K -> E (in Ref. 1; AAB87862).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATGTTGTGAAGACTGTTAAAG	0.348000														69			22		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33502596	33502596	+	Silent	SNP	G	A	A	rs144422380		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:33502596G>A	uc001iwx.4	-	8	1855	c.1332C>T	c.(1330-1332)gaC>gaT	p.D444D	NRP1_uc001iwv.4_Silent_p.D444D|NRP1_uc001iwy.4_Silent_p.D444D|NRP1_uc009xlz.3_Silent_p.D444D|NRP1_uc001iww.4_Silent_p.D263D|NRP1_uc001iwz.2_Silent_p.D444D|NRP1_uc001ixa.2_Silent_p.D444D|NRP1_uc001ixb.2_Silent_p.D444D|NRP1_uc001ixc.1_Silent_p.D444D	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	444	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TGATCTGGGAGTCAGAAATAA	0.493000														122			8		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106968913	106968913	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:106968913C>T	uc003prh.3	+	1	3518	c.2606C>T	c.(2605-2607)tCc>tTc	p.S869F		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	869							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CAGAACGGTTCCCTATCTCAG	0.463000														58			34		0	0	1	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873403	37873403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:37873403G>A	uc021vfz.1	-	0	328	c.328C>T	c.(328-330)Ccg>Tcg	p.P110S	CDC42EP3_uc002rqi.1_Missense_Mutation_p.P110S	NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 3 (CDC42EP3), mRNA.	110					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				CCAATGGTCGGGAGGGAGATG	0.547000														151			18		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717239	13717239	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:13717239C>T	uc001rbt.2	-	12	3112	c.2933G>A	c.(2932-2934)aGc>aAc	p.S978N		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	978					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTACACGTTGCTGTCCTTCAG	0.542000														76			14		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631840	156631840	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:156631840C>T	uc003iov.3	+	6	1059	c.523C>T	c.(523-525)Cat>Tat	p.H175Y	GUCY1A3_uc003iou.2_Missense_Mutation_p.H175Y|GUCY1A3_uc010iqc.2_Missense_Mutation_p.H175Y|GUCY1A3_uc010iqd.3_Missense_Mutation_p.H174Y|GUCY1A3_uc003iow.3_Missense_Mutation_p.H175Y|GUCY1A3_uc003iox.3_Missense_Mutation_p.H175Y|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Missense_Mutation_p.H175Y|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.H175Y	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	175				VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ACAGAGCAGCCATTGCCAAGA	0.433000														57			29		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582563	82582563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82582563G>A	uc003uhx.2	-	4	7995	c.7706C>T	c.(7705-7707)tCa>tTa	p.S2569L	PCLO_uc003uhv.2_Missense_Mutation_p.S2569L|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2500					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						AAATCTTGGTGAAGACTTGTT	0.403000														131			48		0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52781677	52781677	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:52781677G>A	uc001wzr.3	+	0	662	c.411G>A	c.(409-411)tcG>tcA	p.S137S		NM_000956	NP_000947	P43116	PE2R2_HUMAN	Homo sapiens prostaglandin E receptor 2 (subtype EP2), 53kDa (PTGER2), mRNA.	137						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	GCTACCTCTCGATCGGGCACC	0.652000														140			14		0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132212883	132212883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:132212883C>T	uc001uja.1	+	6	1131	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	SFSWAP_uc010tbn.1_Missense_Mutation_p.R331C|SFSWAP_uc001ujb.1_Missense_Mutation_p.R124C|SFSWAP_uc001uiz.1_Missense_Mutation_p.R205C	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	331					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding	p.R331C(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGCACTTGTTCGTAAGGCACA	0.552000														81			42		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73462885	73462885	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:73462885C>T	uc003tzw.3	+	15	890	c.799_splice	c.e15+1	p.G267_splice	ELN_uc003tzm.1_Splice_Site|ELN_uc003tzn.3_Splice_Site_p.G267_splice|ELN_uc003tzy.3_Splice_Site_p.G262_splice|ELN_uc003tzz.3_Splice_Site_p.G231_splice|ELN_uc003tzo.3_Splice_Site_p.G253_splice|ELN_uc003tzp.3_Splice_Site_p.G223_splice|ELN_uc003tzq.3_Splice_Site_p.G150_splice|ELN_uc003tzr.3_Splice_Site|ELN_uc003tzs.3_Splice_Site_p.G267_splice|ELN_uc003tzt.3_Splice_Site_p.G272_splice|ELN_uc003tzu.3_Splice_Site_p.G272_splice|ELN_uc003tzv.3_Splice_Site_p.G257_splice|ELN_uc011kfe.2_Splice_Site|ELN_uc003tzx.3_Splice_Site_p.G257_splice|ELN_uc011kff.2_Splice_Site_p.G267_splice	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	267	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	p.F266F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	cagcaAAGTTCGGTGAGTGCC	0.607000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							65			5		0	0	1	0	0
NGDN	25983	broad.mit.edu	37	14	23944473	23944473	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23944473C>T	uc001wjy.3	+	3	265	c.238C>T	c.(238-240)Ctt>Ttt	p.L80F	NGDN_uc001wjz.3_Missense_Mutation_p.L80F	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	Homo sapiens neuroguidin, EIF4E binding protein (NGDN), transcript variant 1, mRNA.	80	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus		p.L80V(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AGGAGGATCTCTTCAGGGACA	0.468000														69			41		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52942175	52942175	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52942175C>T	uc002pzk.3	+	3	1568	c.1501C>T	c.(1501-1503)Cat>Tat	p.H501Y	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.H488Y	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TAGGAAAATTCATACTGGAGA	0.403000														18			3		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881391	26881391	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:26881391C>A	uc003jgs.1	-	11	2393	c.2224G>T	c.(2224-2226)Ggg>Tgg	p.G742W	CDH9_uc011cnv.1_Missense_Mutation_p.G335W	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	742					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G742G(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GAATCATTCCCTTCATAGGCA	0.418000														122			32		6.00712e-18	6.03818e-18	1	1	0
MUC16	94025	broad.mit.edu	37	19	9083611	9083611	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9083611G>A	uc002mkp.3	-	0	8408	c.8204C>T	c.(8203-8205)cCa>cTa	p.P2735L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2735	Ser-rich.|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						TGTATTCCGTGGAGCAACAAT	0.463000														84			37		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61597340	61597340	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61597340G>A	uc010xev.2	+	5	642	c.552G>A	c.(550-552)gtG>gtA	p.V184V	SERPINB2_uc010xew.2_Silent_p.V184V	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	199					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)	TGATTCTGGTGAACGCCCTAT	0.388000														91			7		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156937867	156937867	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156937867G>A	uc001fqo.3	-	9	1795	c.755C>T	c.(754-756)cCt>cTt	p.P252L	ARHGEF11_uc001fqn.3_Missense_Mutation_p.P292L	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	252					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGAGGTTCGAGGACTGTCTAG	0.567000														31			30		0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48124509	48124510	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:48124509_48124510CC>TT	uc002xut.3	-	9	1504_1505	c.1450_1451GG>AA	c.(1450-1452)ggt>AAt	p.G484N	PTGIS_uc010zyi.2_Missense_Mutation_p.G345N	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	484					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	CTGCATCAGACCGAAGCCGTAC	0.599000														38			13		0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64967823	64967823	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:64967823C>G	uc002ann.3	+	3	2770	c.2770C>G	c.(2770-2772)Ctg>Gtg	p.L924V		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	924						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGCCAGGCCCTGAAGACAAA	0.507000														193			16		0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45561771	45561771	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:45561771C>T	uc003cop.1	+	18	2460	c.2275C>T	c.(2275-2277)Ctc>Ttc	p.L759F	LARS2_uc010hit.1_Missense_Mutation_p.L716F	NM_015340	NP_056155	Q15031	SYLM_HUMAN	Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA.	759					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	GCTGATGGGACTCAGCAATGC	0.493000														98			13		0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6026741	6026741	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:6026741T>C	uc003spl.3	-	10	1742	c.1655A>G	c.(1654-1656)cAt>cGt	p.H552R	PMS2_uc003spj.3_Missense_Mutation_p.H446R|PMS2_uc003spk.3_Missense_Mutation_p.H417R|PMS2_uc011jwl.2_Missense_Mutation_p.H417R|PMS2_uc010ktg.3_Missense_Mutation_p.H241R|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Missense_Mutation_p.H552R	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	552					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTGGTTTGAATGGCAGTCCAC	0.473000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					217			88		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52595973	52595973	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:52595973C>T	uc001jjj.3	-	5	653	c.465G>A	c.(463-465)gaG>gaA	p.E155E	A1CF_uc010qho.2_Silent_p.E163E|A1CF_uc010qhn.2_Silent_p.E163E|A1CF_uc009xov.3_Silent_p.E155E|A1CF_uc001jji.3_Silent_p.E155E|A1CF_uc001jjh.3_Silent_p.E163E	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	155	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCTTTTTCATCTCCGATAAGA	0.468000														131			29		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685759	248685759	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248685759G>A	uc001ien.1	+	0	812	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAAACCAGGGAAAGTTTGTT	0.438000														89			28		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233769	21233769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21233769C>T	uc002red.3	-	25	6099	c.5971G>A	c.(5971-5973)Gaa>Aaa	p.E1991K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1991					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGCTGTATTCATTGTTGTTA	0.463000														95			31		0	0	1	0	0
SPRYD3	84926	broad.mit.edu	37	12	53461987	53461987	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53461987G>A	uc001sbt.2	-	6	882	c.795C>T	c.(793-795)atC>atT	p.I265I	SPRYD3_uc010snw.2_Silent_p.I91I	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA.	265										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CAGGGTCCACGATCTCCACCT	0.612000														132			52		0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56565478	56565478	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56565478G>A	uc002iwi.1	-	0	282	c.158C>T	c.(157-159)cCg>cTg	p.P53L		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	53						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					cggcccgggcgggcTGAGCAG	0.721000														12			5		0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83456104	83456104	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83456104C>T	uc002bjd.2	-	1	206	c.39G>A	c.(37-39)agG>agA	p.R13R	FSD2_uc010uol.1_Silent_p.R13R|FSD2_uc010uom.1_Silent_p.R13R	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	13										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TGGGAGTAGACCTGTCCAGCC	0.468000														64			65		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438476	179438476	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179438476C>T	uc021vsy.1	-	274	64904	c.64679G>A	c.(64678-64680)gGa>gAa	p.G21560E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G15255E|TTN_uc021vta.1_Missense_Mutation_p.G15188E|TTN_uc021vtb.1_Missense_Mutation_p.G15063E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22487	Fibronectin type-III 56.						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)			AGCCAAAGGTCCTTCAGGTGG	0.448000														94			29		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67664986	67664986	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:67664986C>T	uc002aqo.2	+	8	1388	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C	IQCH_uc010ujv.2_Missense_Mutation_p.R250C|IQCH_uc002aqn.2_Missense_Mutation_p.R258C|IQCH_uc002aqp.2_Missense_Mutation_p.R183C|IQCH_uc002aqq.2_Missense_Mutation_p.R179C	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	431										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GGAGAATTTTCGCATTCGAGC	0.443000														174			52		0	0	1	0	0
POLR3D	661	broad.mit.edu	37	8	22106037	22106037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:22106037C>T	uc003xbl.3	+	5	613	c.530C>T	c.(529-531)cCt>cTt	p.P177L	POLR3D_uc003xbm.3_Missense_Mutation_p.P177L|POLR3D_uc011kze.2_Non-coding_Transcript	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	177					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CGAAATATGCCTGTGCAGCTG	0.537000														88			40		0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991161	21991161	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:21991161G>A	uc002nqj.3	-	3	1808	c.1678C>T	c.(1678-1680)Cat>Tat	p.H560Y	ZNF43_uc002nql.3_Missense_Mutation_p.H554Y|ZNF43_uc002nqm.3_Missense_Mutation_p.H554Y|ZNF43_uc010ecv.3_Missense_Mutation_p.H554Y|ZNF43_uc002nqk.3_Missense_Mutation_p.H490Y	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCTCCAGTATGAATCCTCTTA	0.363000														69			37		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201046127	201046127	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201046127C>T	uc001gvv.3	-	11	1975	c.1748G>A	c.(1747-1749)gGg>gAg	p.G583E		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	583					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GTCATACCTCCCCCCAAAGAG	0.572000														100			35		0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34092618	34092618	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34092618C>T	uc021wco.1	+	29	7068	c.6421C>T	c.(6421-6423)Ctt>Ttt	p.L2141F	CEP250_uc010zve.2_Missense_Mutation_p.L1509F	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	2141	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ATCTCTAAAACTTGATTCTTT	0.557000														95			7		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183673094	183673094	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:183673094C>T	uc003ivd.1	+	18	3846	c.3771C>T	c.(3769-3771)gtC>gtT	p.V1257V	ODZ3_uc003ive.1_Silent_p.V670V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1257					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CAGAAGTCGTCGCAGGGACAG	0.537000														48			17		0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177675235	177675235	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:177675235C>T	uc021yiz.1	-	19	1528	c.1170G>A	c.(1168-1170)ggG>ggA	p.G390G	COL23A1_uc021yiy.1_Silent_p.G166G|COL23A1_uc010jkt.2_Silent_p.G272G	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	390	Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCCCCTTCTCCCCCTTGAGGC	0.647000														77			35		0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100888	93100888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:93100888C>T	uc001tch.2	+	1	932	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	C12orf74_uc001tci.3_Missense_Mutation_p.P161S|C12orf74_uc021rbt.1_Missense_Mutation_p.P161S	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	161										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCTGCCCAGCCCCACCCTACG	0.547000														41			7		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	825075	825075	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:825075C>T	uc002cjz.1	-	6	1497	c.1497G>A	c.(1495-1497)cgG>cgA	p.R499R		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	168					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CTCCAATGCACCGGGCCCATC	0.761000														18			6		0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133953998	133953998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:133953998C>T	uc001lkx.4	+	8	1388	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAAGAGGCTTCCCTGGAATCC	0.587000														26			8		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17418749	17418749	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17418749C>T	uc001mnc.3	-	31	4105	c.3979G>A	c.(3979-3981)Ggg>Agg	p.G1327R		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1327					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCCAGGAGCCCCTCGTAGCTC	0.637000														156			29		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161123349	161123349	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:161123349G>A	uc003qtm.4	+	0	125	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	PLG_uc021zhr.1_Missense_Mutation_p.E5K	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	5					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGAACATAAGGAAGTGGTTCT	0.368000														65			43		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428916	179428916	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179428916C>T	uc021vsy.1	-	274	74464	c.74239G>A	c.(74239-74241)Gaa>Aaa	p.E24747K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E18442K|TTN_uc021vta.1_Missense_Mutation_p.E18375K|TTN_uc021vtb.1_Missense_Mutation_p.E18250K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25674	Fibronectin type-III 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T24747N(1)		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)			TCTTCAAGTTCTTTTCCATCT	0.378000														177			60		0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23728509	23728509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:23728509C>T	uc002wtp.3	-	2	441	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	124						extracellular region	cysteine-type endopeptidase inhibitor activity	p.Y123C(1)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CAGGGAACTTCGTAGATCTCG	0.527000														34			31		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103124627	103124627	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103124627C>T	uc002tbz.4	+	4	1745	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	430					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						CAGTGGTGTTCGAGGAGCTGG	0.413000														86			39		0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40520580	40520580	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40520580C>T	uc002oms.2	+	6	1659	c.1403C>T	c.(1402-1404)cCc>cTc	p.P468L	ZNF546_uc002omt.2_Missense_Mutation_p.P442L	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GGTGAGAAACCCTATGAATGT	0.408000														85			27		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62718868	62718868	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62718868C>T	uc001dah.4	-	7	2930	c.2553G>A	c.(2551-2553)gtG>gtA	p.V851V	KANK4_uc001dai.4_Silent_p.V223V|KANK4_uc001daf.4_5'UTR|KANK4_uc001dag.4_Silent_p.V207V	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	851										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TCTGATGGTCCACATTGCAGA	0.537000														87			27		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101510475	101510475	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:101510475G>A	uc010svm.1	+	24	3041	c.2469G>A	c.(2467-2469)gtG>gtA	p.V823V	ANO4_uc001thw.2_Silent_p.V788V|ANO4_uc001thx.2_Silent_p.V823V|ANO4_uc001thy.2_Silent_p.V343V	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	823						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						TTGGCTATGTGAATGCCAGCT	0.473000										HNSCC(74;0.22)				207			79		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71891404	71891404	+	Silent	SNP	C	T	T	rs151276652	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71891404C>T	uc010fen.3	+	45	5151	c.5010C>T	c.(5008-5010)ttC>ttT	p.F1670F	DYSF_uc010fei.3_Silent_p.F1648F|DYSF_uc010feh.3_Silent_p.F1638F|DYSF_uc002sig.4_Silent_p.F1617F|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.F1662F|DYSF_uc010fee.3_Silent_p.F1652F|DYSF_uc010fef.3_Silent_p.F1669F|DYSF_uc002sie.3_Silent_p.F1631F|DYSF_uc010feo.3_Silent_p.F1663F|DYSF_uc010fej.3_Silent_p.F1639F|DYSF_uc010fel.3_Silent_p.F1618F|DYSF_uc010fem.3_Silent_p.F1653F|DYSF_uc002sif.3_Silent_p.F1632F|DYSF_uc010fek.3_Silent_p.F1649F|DYSF_uc010yqy.2_Silent_p.F512F|DYSF_uc010yqz.2_Silent_p.F392F	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1631						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCAGGATGTTCGAGCTGACCT	0.572000														65			33		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55266508	55266508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55266508C>T	uc003tqk.3	+	22	3046	c.2800C>T	c.(2800-2802)Cct>Tct	p.P934S	EGFR_uc022adm.1_Missense_Mutation_p.P934S|EGFR_uc010kzg.2_Missense_Mutation_p.P889S|EGFR_uc022adn.1_Missense_Mutation_p.P889S|EGFR_uc011kco.2_Missense_Mutation_p.P881S	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	934	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGAACGCCTCCCTCAGCCACC	0.542000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				58			15		0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247654918	247654918	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247654918G>A	uc001icz.2	+	0	549	c.489G>A	c.(487-489)acG>acA	p.T163T		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCCTCAGACGATGCAGCTCT	0.557000														61			31		0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46497370	46497370	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46497370G>A	uc003cpq.3	-	3	656	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	LTF_uc003fzr.3_Missense_Mutation_p.R95C|LTF_uc010hjh.3_Missense_Mutation_p.R139C|LTF_uc003cpr.3_Missense_Mutation_p.R126C	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	139	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GCGGTCCTGCGAAGGCCTGTG	0.562000														39			13		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19339336	19339336	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19339336C>T	uc002nlz.3	+	7	3006	c.2907C>T	c.(2905-2907)ttC>ttT	p.F969F	NCAN_uc010ecc.1_Silent_p.F533F	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	969					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TAGAGGACTTCGAACTGGAGG	0.642000														120			49		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161019326	161019326	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161019326C>T	uc001fxl.3	-	10	1920	c.1574G>A	c.(1573-1575)gGg>gAg	p.G525E	ARHGAP30_uc001fxk.3_Missense_Mutation_p.G525E|ARHGAP30_uc001fxm.3_Missense_Mutation_p.G371E|ARHGAP30_uc009wtx.3_Missense_Mutation_p.G198E|ARHGAP30_uc001fxn.1_Missense_Mutation_p.G371E	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	525					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ATCCTCTGCCCCCACCCACTC	0.647000														110			32		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64603064	64603064	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64603064C>T	uc001obs.4	-	14	1788	c.1788G>A	c.(1786-1788)ggG>ggA	p.G596G		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	596					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						GGGGTCCCATCCCGTTGGTCT	0.667000														94			20		0	0	1	0	0
ZGPAT	84619	broad.mit.edu	37	20	62367218	62367218	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62367218C>A	uc002ygk.3	+	6	1732	c.1543C>A	c.(1543-1545)Ctg>Atg	p.L515M	ZGPAT_uc002ygi.2_Missense_Mutation_p.L495M|ZGPAT_uc010gkk.2_Missense_Mutation_p.L72M|ZGPAT_uc010gkl.2_Missense_Mutation_p.L495M|ZGPAT_uc002ygm.3_Missense_Mutation_p.L486M|ZGPAT_uc002ygj.2_Missense_Mutation_p.L495M|ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_5'UTR|ZGPAT_uc002ygp.4_5'UTR	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	515					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GGAAGCCGGCCTGCAGCAGGA	0.652000														37			26		2.12542e-12	2.13436e-12	1	1	0
KIAA0319	9856	broad.mit.edu	37	6	24559266	24559266	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:24559266G>A	uc011djo.2	-	16	3209	c.2709C>T	c.(2707-2709)ttC>ttT	p.F903F	KIAA0319_uc011djp.2_Silent_p.F858F|KIAA0319_uc003neh.1_Silent_p.F903F|KIAA0319_uc011djq.1_Silent_p.F894F|KIAA0319_uc011djr.1_Silent_p.F903F|KIAA0319_uc010jpt.1_Silent_p.F314F	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	903					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCAAGACCTTGAAAAGCAAGA	0.453000														18			7		0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28534587	28534587	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:28534587C>T	uc003szq.3	+	2	529	c.139C>T	c.(139-141)Cct>Tct	p.P47S	CREB5_uc003szo.3_Missense_Mutation_p.P14S|CREB5_uc003szr.3_Missense_Mutation_p.P40S	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	47					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TTTGAAGTTTCCTTCAATAAA	0.408000														111			38		0	0	1	0	0
SLC2A8	29988	broad.mit.edu	37	9	130167124	130167124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130167124C>T	uc004bqu.3	+	7	1049	c.1004C>T	c.(1003-1005)gCc>gTc	p.A335V	SLC2A8_uc010mxj.3_Missense_Mutation_p.A335V	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 8 (SLC2A8), mRNA.	335						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						AGCACGAGTGCCTTCGGCGCC	0.687000														42			9		0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349343	150349343	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:150349343G>A	uc010ntg.2	+	1	1426	c.1288G>A	c.(1288-1290)Ggt>Agt	p.G430S		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	430	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGCCTCTGGTCACCCCAA	0.547000														100			145		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25376587	25376587	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25376587G>A	uc001upr.3	+	13	1868	c.1827G>A	c.(1825-1827)atG>atA	p.M609I	RNF17_uc010tdd.1_Missense_Mutation_p.M468I|RNF17_uc010tde.2_Missense_Mutation_p.M609I|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.M548I	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	609					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)		CTGTTTCAATGAAAGTTTTTA	0.363000														84			37		0	0	1	0	0
OR9G9	390174	broad.mit.edu	37	11	56468488	56468488	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56468488C>T	uc010rjn.2	+	0	625	c.625C>T	c.(625-627)Ccc>Tcc	p.P209S	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TGTCATCTGCCCCGCAGTGCT	0.527000														215			13		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108385508	108385508	+	Silent	SNP	G	A	A	rs116742815	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:108385508G>A	uc001pkk.3	-	5	837	c.726C>T	c.(724-726)ttC>ttT	p.F242F	EXPH5_uc010rvz.2_Silent_p.F86F|EXPH5_uc010rvy.2_Silent_p.F54F	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	242					intracellular protein transport		Rab GTPase binding	p.F242F(2)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAAAGTGACCGAACTGTGTTC	0.383000														115			50		0	0	1	0	0
ZNF850	342892	broad.mit.edu	37	19	37240729	37240729	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:37240729G>A	uc010efc.3	-	4	1372	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	ZNF850_uc010xtm.2_Missense_Mutation_p.R371C	NM_001193552	NP_001180481	A8MQ14	ZN850_HUMAN	Homo sapiens zinc finger protein 850 (ZNF850), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AACCCTGAGCGAAAAGTAAAA	0.383000														9			9		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39425938	39425938	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:39425938C>T	uc001uwv.3	+	10	7167	c.6858C>T	c.(6856-6858)tcC>tcT	p.S2286S	FREM2_uc001uww.3_Silent_p.S372S	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2286	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAAAGGTTTCCATTGTGAGAG	0.507000														62			22		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48719832	48719832	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:48719832G>A	uc001zwx.2	-	57	7531	c.7136C>T	c.(7135-7137)cCt>cTt	p.P2379L	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2379	TB 9.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCCCTGGAAAGGGCAGATCTC	0.527000														79			8		0	0	1	0	0
NUP54	53371	broad.mit.edu	37	4	77055431	77055431	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77055431G>A	uc003hjs.3	-	4	735	c.607C>T	c.(607-609)Cga>Tga	p.R203*	NUP54_uc010ije.3_Intron|NUP54_uc011cbs.2_Nonsense_Mutation_p.R23*|NUP54_uc011cbt.2_Nonsense_Mutation_p.R155*|NUP54_uc003hjt.3_Nonsense_Mutation_p.R23*	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	Homo sapiens nucleoporin 54kDa (NUP54), mRNA.	203	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		p.I202I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TGTTGGCTTCGAATCTCTGTT	0.388000														60			7		0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282509	69282509	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:69282509C>T	uc004dxu.1	+	0	169	c.135C>T	c.(133-135)ctC>ctT	p.L45L		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	45										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGCAGTTGCTCCAAGACGTGG	0.582000														7			5		0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191299	6191299	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6191299G>A	uc010qzy.2	-	0	258	c.258C>T	c.(256-258)atC>atT	p.I86I		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A85S(1)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGCCAAAAGATGGCTAGGG	0.493000														125			47		0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42437980	42437980	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42437980C>T	uc001zoz.3	-	14	1748	c.1656G>A	c.(1654-1656)cgG>cgA	p.R552R	PLA2G4F_uc010bcq.3_5'Flank|PLA2G4F_uc001zoy.3_Silent_p.R184R|PLA2G4F_uc001zpa.3_Silent_p.R303R|PLA2G4F_uc010bcr.3_Silent_p.R303R|PLA2G4F_uc010bcs.3_Silent_p.R339R	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	552	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGTAACAGATCCGGGGTTCAG	0.632000														63			9		0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187419802	187419802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:187419802C>T	uc003fro.1	-	0	544	c.115G>A	c.(115-117)Gag>Aag	p.E39K	LOC100131635_uc021xio.1_5'Flank	NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA.	39					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GGGGCCAGCTCACTGGGCTTG	0.592000														181			49		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082626	9082626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9082626C>T	uc002mkp.3	-	0	9393	c.9189G>A	c.(9187-9189)agG>agA	p.R3063R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3064	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						TGTTGGGCTGCCTTGCCATGG	0.483000														129			44		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497619	1497619	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:1497619C>T	uc003wpl.3	+	1	857	c.760C>T	c.(760-762)Ccc>Tcc	p.P254S	DLGAP2_uc003wpm.3_Missense_Mutation_p.P254S	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	333					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCTGCAGAGCCCCTTCGGGGA	0.662000														112			14		0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861330	55861330	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55861330C>T	uc010rix.2	+	0	547	c.547C>T	c.(547-549)Ctt>Ttt	p.L183F		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L183F(2)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CACCACAGCTCTTTTAGCACT	0.438000														165			51		0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201286864	201286864	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201286864C>T	uc001gwd.3	+	4	1262	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	PKP1_uc001gwe.3_Silent_p.L337L|PKP1_uc009wzm.3_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	337					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CAGTCAGCCTCCTGAGGAGAA	0.647000														31			11		0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	159997081	159997081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:159997081G>A	uc021xgr.1	-	14	1782	c.1736C>T	c.(1735-1737)tCc>tTc	p.S579F	IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Missense_Mutation_p.S442F|IFT80_uc021xgq.1_Missense_Mutation_p.S577F|IFT80_uc003fde.2_Missense_Mutation_p.S442F|IFT80_uc003fdd.2_Missense_Mutation_p.S262F	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	579						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTGAACCAGGGAGCCATCAGC	0.358000														55			26		0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17927185	17927185	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:17927185G>A	uc002rco.3	-	2	325	c.29C>T	c.(28-30)tCc>tTc	p.S10F	SMC6_uc010exo.3_Missense_Mutation_p.S10F|SMC6_uc002rcn.3_Missense_Mutation_p.S10F|SMC6_uc002rcp.1_Missense_Mutation_p.S10F|SMC6_uc002rcq.2_Missense_Mutation_p.S10F|SMC6_uc002rcr.1_Missense_Mutation_p.S10F	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	10					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTAGGAGAGGAAAAATTTTC	0.328000														25			7		0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241964441	241964441	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:241964441G>A	uc001hzg.2	+	26	3377	c.3170G>A	c.(3169-3171)cGa>cAa	p.R1057Q	WDR64_uc021pli.1_Missense_Mutation_p.R610Q	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	1057										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CAGGCACCACGAAGAAGAAGT	0.373000														74			25		0	0	1	0	0
CLDN18	51208	broad.mit.edu	37	3	137749945	137749945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:137749945G>A	uc003ero.1	+	4	801	c.748G>A	c.(748-750)Gag>Aag	p.E250K	CLDN18_uc003erp.1_Missense_Mutation_p.E250K|CLDN18_uc010hue.1_Missense_Mutation_p.E206K	NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	250					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.E250D(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CACAGAGGACGAGGTACAATC	0.517000														112			43		0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966227	2966227	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:2966227G>A	uc021tns.1	-	0	675	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						GCATTTGAAGGATGGTTCTGA	0.493000														26			10		0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	85863064	85863064	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:85863064C>T	uc004ams.2	-	13	1765	c.1563G>A	c.(1561-1563)gtG>gtA	p.V521V	FRMD3_uc004amr.1_Silent_p.V521V|FRMD3_uc022bja.1_Silent_p.V477V|FRMD3_uc004amq.1_Silent_p.V178V|FRMD3_uc022biz.1_Silent_p.V327V	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	521						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CCAGTGGGTTCACCCGAATAT	0.517000														58			26		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119943026	119943026	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:119943026G>A	uc001txe.3	+	6	1266	c.801G>A	c.(799-801)gtG>gtA	p.V267V	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	267										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCCCAAGTGTGAACACCCAGG	0.552000														199			56		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126328089	126328089	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126328089C>T	uc003ifj.4	+	2	5362	c.5362C>T	c.(5362-5364)Cgc>Tgc	p.R1788C	FAT4_uc011cgp.2_Missense_Mutation_p.R86C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1788	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R1788H(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGATAGTTTTCGCATCGACCC	0.463000														92			50		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61557841	61557841	+	Missense_Mutation	SNP	G	A	A	rs149412997	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61557841G>A	uc002jau.2	+	4	833	c.799G>A	c.(799-801)Gga>Aga	p.G267R	ACE_uc010wpi.2_Missense_Mutation_p.G267R|ACE_uc010ddu.2_Missense_Mutation_p.G84R	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	267	Peptidase M2 1.				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)	TCGCCGATACGGAGACAGATA	0.607000														87			34		0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60370618	60370618	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:60370618C>T	uc001czq.3	-	6	1121	c.1116G>A	c.(1114-1116)atG>atA	p.M372I		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	372					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TGATGTTGCCCATTCTCTGCA	0.557000														85			34		0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81592522	81592522	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:81592522C>T	uc021ssh.1	+	12	2956	c.2855C>T	c.(2854-2856)tCt>tTt	p.S952F	IL16_uc010blq.1_Missense_Mutation_p.S906F|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.S994F|IL16_uc002bgg.3_Missense_Mutation_p.S952F|IL16_uc002bgi.1_Missense_Mutation_p.S342F|IL16_uc002bgj.3_Missense_Mutation_p.S446F|IL16_uc021ssi.1_Missense_Mutation_p.S251F|IL16_uc002bgl.1_Missense_Mutation_p.S251F|IL16_uc010unq.1_Missense_Mutation_p.S251F	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	952					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCTGAGGAATCTCAAGGCCCA	0.617000														46			50		0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50909687	50909687	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50909687C>T	uc010eny.3	+	10	1408	c.1407C>T	c.(1405-1407)ctC>ctT	p.L469L	POLD1_uc002psb.4_Silent_p.L469L|POLD1_uc002psc.4_Silent_p.L469L|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	469					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		AGTACAAGCTCCGCTCCTACA	0.657000								DNA polymerases (catalytic subunits)						4			4		0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73122195	73122195	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73122195T>G	uc001jrr.4	+	5	1315	c.1258T>G	c.(1258-1260)Tcc>Gcc	p.S420A	SLC29A3_uc001jrs.4_3'UTR|SLC29A3_uc010qjq.2_Missense_Mutation_p.S274A|SLC29A3_uc001jrt.4_Missense_Mutation_p.S214A	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	420					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						ACTCCTCAGCTCCCTGCTGGG	0.632000														90			30		0	0	1	0	0
NAT16	375607	broad.mit.edu	37	7	100815389	100815389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100815389C>T	uc003uxy.2	-	3	1320	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	NAT16_uc003uxz.2_Missense_Mutation_p.E361K	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	Homo sapiens N-acetyltransferase 16 (GCN5-related, putative) (NAT16), mRNA.	361							N-acetyltransferase activity										AGGTACTGTTCAGTATAACCC	0.622000														51			17		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38768370	38768370	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38768370G>A	uc003ciq.3	-	15	2814	c.2814C>T	c.(2812-2814)ttC>ttT	p.F938F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	938					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGGCTGGGGGAATGGGCAGG	0.602000														83			27		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69798419	69798419	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69798419C>T	uc003hef.2	-	2	954	c.923G>A	c.(922-924)gGg>gAg	p.G308E	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	308						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAACAGTGACCCCAGAGAAAA	0.388000														200			52		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127611766	127611766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:127611766C>T	uc003kuu.3	-	58	7997	c.7558G>A	c.(7558-7560)Ggg>Agg	p.G2520R		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2520	EGF-like 42; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGACATACCCCCTCGGACAT	0.433000														148			31		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45678478	45678478	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45678478G>A	uc002zeg.1	-	5	928	c.444C>T	c.(442-444)tcC>tcT	p.S148S	DNMT3L_uc002zeh.1_Silent_p.S148S	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	148	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CGCTTCGGGAGGACGGCAGGC	0.662000														26			6		0	0	1	0	0
SLC35E3	55508	broad.mit.edu	37	12	69145889	69145889	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:69145889C>T	uc001suh.3	+	2	813	c.591C>T	c.(589-591)gcC>gcT	p.A197A		NM_018656	NP_061126	Q7Z769	S35E3_HUMAN	Homo sapiens solute carrier family 35, member E3 (SLC35E3), mRNA.	197						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TGTCATCTGCCATGTTGCTGG	0.443000														179			72		0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100491719	100491720	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100491719_100491720CC>TT	uc003uxd.3	-	0	290_291	c.134_135GG>AA	c.(133-135)ggg>gAA	p.G45E	ACHE_uc003uxe.3_Missense_Mutation_p.G45E|ACHE_uc003uxf.3_Missense_Mutation_p.G45E|ACHE_uc003uxg.3_Missense_Mutation_p.G45E|ACHE_uc003uxh.3_Missense_Mutation_p.G45E|ACHE_uc003uxi.3_Missense_Mutation_p.G45E|ACHE_uc003uxj.1_Missense_Mutation_p.G164E	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	45					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GCAGCCGGCCCCCACGCACCGT	0.693000														15			3		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67136784	67136784	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:67136784G>A	uc002jhw.1	-	1	236	c.61C>T	c.(61-63)Ctt>Ttt	p.L21F	ABCA6_uc002jhy.3_Missense_Mutation_p.L19F	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	21					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CATTTCTTAAGAAAATTCTTG	0.363000														90			23		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	95001578	95001578	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:95001578C>T	uc003unt.3	-	3	299	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	PON1_uc011kih.2_Intron|PON1_uc011kii.2_Missense_Mutation_p.E140K	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	92					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GGGTTTTGTTCATTCAGATCC	0.378000														83			24		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13363724	13363724	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:13363724G>A	uc003bxv.1	-	34	4967	c.4884C>T	c.(4882-4884)ttC>ttT	p.F1628F		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1628					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCTCCACGGTGAACACATCTT	0.537000														100			44		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79980472	79980472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:79980472C>T	uc004akr.3	+	59	8568	c.8308C>T	c.(8308-8310)Cat>Tat	p.H2770Y	VPS13A_uc004akp.4_Missense_Mutation_p.H2770Y|VPS13A_uc004akq.4_Missense_Mutation_p.H2770Y|VPS13A_uc004aks.3_Missense_Mutation_p.H2731Y	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2770					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGAATATTTTCATATATCTCC	0.299000														76			14		0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641014	36641014	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36641014G>A	uc002xhl.3	-	2	1414	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	TTI1_uc002xhm.3_Missense_Mutation_p.S402F	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	402							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AAGTAACAAGGAAAGAGTAGA	0.478000														84			45		0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173916423	173916423	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:173916423G>A	uc002uhv.4	+	30	3151	c.2964G>A	c.(2962-2964)cgG>cgA	p.R988R	RAPGEF4_uc002uhw.4_Silent_p.R844R	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	988	Ras-GEF.				G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GTTATGTACGGCAATTAAATG	0.408000														60			24		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487953	108487953	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:108487953G>A	uc010ywk.2	+	19	3575	c.3493G>A	c.(3493-3495)Gag>Aag	p.E1165K	RGPD4_uc002tdu.3_Missense_Mutation_p.E352K|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1165	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCAGAAATTTGAGGAATGCCA	0.433000														203			22		0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1956458	1956458	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1956458C>T	uc001aip.2	+	1	241	c.146C>T	c.(145-147)gCc>gTc	p.A49V		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	49						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGGCTGATAGCCGGCTACGCC	0.677000														40			12		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936761	4936761	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4936761G>A	uc001lzr.1	-	0	133	c.133C>T	c.(133-135)Ccg>Tcg	p.P45S		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTTGCCCGGGATGGAAACC	0.502000														79			17		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73056937	73056937	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:73056937G>A	uc001sxa.3	+	18	3067	c.3037G>A	c.(3037-3039)Gag>Aag	p.E1013K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	1013					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.E1013Q(2)		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						TTACCAAGACGAGCTTTTCCA	0.393000														36			12		0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323781	29323781	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29323781C>T	uc011dlo.2	-	0	274	c.192G>A	c.(190-192)ggG>ggA	p.G64G		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGGCCAAGTTCCCTAGAAAAT	0.408000														126			58		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207787802	207787802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207787802C>T	uc001hfy.3	+	31	5419	c.5279C>T	c.(5278-5280)gCc>gTc	p.A1760V	CR1_uc001hfx.3_Missense_Mutation_p.A2210V|CR1_uc021pij.1_Missense_Mutation_p.A1760V	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1760	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGAATGAAAGCCCTTTGGAAT	0.413000														88			19		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47678608	47678608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:47678608G>A	uc003oyz.1	+	4	457	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	GPR115_uc003oza.1_Missense_Mutation_p.E96K|GPR115_uc003ozb.1_Missense_Mutation_p.E96K	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	96					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CCTTTCTGTGGAAAAACTCTT	0.393000														65			32		0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686626	108686626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:108686626C>T	uc009zuw.3	-	2	305	c.114G>A	c.(112-114)gtG>gtA	p.V38V	CMKLR1_uc001tmw.3_Silent_p.V38V|CMKLR1_uc001tmv.3_Silent_p.V36V|CMKLR1_uc009zuv.3_Silent_p.V38V|CMKLR1_uc021rdj.1_Silent_p.V36V	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	38					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AGATCCTGGTCACCCTGGCTT	0.473000														47			20		0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6749241	6749241	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6749241C>T	uc001qpu.1	-	7	1458	c.1410G>A	c.(1408-1410)ggG>ggA	p.G470G	LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Silent_p.G437G	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	470						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TAGGGAAATCCCCATCCTGGA	0.542000														34			9		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178555048	178555048	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178555048G>A	uc003mjw.3	-	16	2631	c.2529C>T	c.(2527-2529)gtC>gtT	p.V843V		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	843	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGTTGTCGTCGACATTCAGTG	0.582000														112			11		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027387	55027387	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:55027387C>T	uc002xxp.2	+	5	1380	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	CASS4_uc002xxq.4_Silent_p.S385S|CASS4_uc010zze.1_Silent_p.S331S|CASS4_uc002xxr.2_Silent_p.S385S|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	385	Ser-rich.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CATGGTTCTCCAGACGGACAA	0.537000														31			11		0	0	1	0	0
IL2	3558	broad.mit.edu	37	4	123374864	123374864	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:123374864C>T	uc003ier.3	-	3	406	c.351_splice	c.e3+1	p.K117_splice		NM_000586	NP_000577	P60568	IL2_HUMAN	Homo sapiens interleukin 2 (IL2), mRNA.	117					T cell differentiation|anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of B cell proliferation|positive regulation of activated T cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		TAATGCCTTACCTTTAGTTCC	0.338000			T	TNFRSF17	intestinal T-cell lymphoma									104			22		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513637	4513637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4513637C>T	uc002mar.1	-	2	293	c.293G>A	c.(292-294)aGc>aAc	p.S98N	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	98	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTCCACCACGCTGGCCACCCC	0.637000														15			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182108	140182108	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140182108C>T	uc003lhf.2	+	0	1326	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.S442S	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	456	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)			CCAGCGTGTCCGTGGAGGTGG	0.652000														133			61		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36322207	36322207	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36322207C>T	uc002oby.3	-	25	3534	c.3378G>A	c.(3376-3378)caG>caA	p.Q1126Q	NPHS1_uc010eem.1_Non-coding_Transcript	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	1126					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGTGGAGCTCTGAGTGTCCC	0.597000														73			29		0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128896701	128896701	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:128896701G>A	uc004eut.1	+	18	1939	c.1695G>A	c.(1693-1695)ggG>ggA	p.G565G		NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	565					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GAGAATTTGGGATCCGTCTCG	0.542000														24			36		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8608525	8608525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:8608525G>A	uc003glm.3	+	5	1142	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.R312Q|CPZ_uc003gln.3_Missense_Mutation_p.R186Q	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	323					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATCTGAACCGAAATTTCCCG	0.647000														53			25		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114223968	114223968	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:114223968G>A	uc003ibe.4	+	22	2621	c.2521G>A	c.(2521-2523)Gag>Aag	p.E841K	ANK2_uc003ibd.4_Missense_Mutation_p.E820K|ANK2_uc003ibf.4_Missense_Mutation_p.E841K|ANK2_uc011cgc.2_Missense_Mutation_p.E50K|ANK2_uc003ibc.2_Missense_Mutation_p.E817K|ANK2_uc011cgb.1_Missense_Mutation_p.E856K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	841					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T840A(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GACGATGACTGAGGTTCTTGA	0.333000														95			31		0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116335236	116335236	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:116335236C>T	uc021pyx.1	-	2	601	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	ABLIM1_uc021pyw.1_Missense_Mutation_p.E168K|ABLIM1_uc021pyy.1_Missense_Mutation_p.E108K|ABLIM1_uc021pyz.1_Missense_Mutation_p.E102K|ABLIM1_uc021pza.1_Missense_Mutation_p.E108K|ABLIM1_uc021pze.1_Missense_Mutation_p.E92K|ABLIM1_uc021pzf.1_Missense_Mutation_p.E102K|ABLIM1_uc021pzd.1_Missense_Mutation_p.E16K	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	168	LIM zinc-binding 2.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	p.E108K(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTCACCACTTCGCCCTCCACG	0.537000														82			27		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124352006	124352006	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124352006G>A	uc001lgk.1	+	19	2501	c.2395G>A	c.(2395-2397)Gat>Aat	p.D799N	DMBT1_uc001lgl.1_Missense_Mutation_p.D789N|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.D799N|DMBT1_uc021qag.1_Missense_Mutation_p.D789N|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.D799N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.D412N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	799	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTTCTGGATGATGTGCGCTG	0.607000														231			25		0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109049587	109049587	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:109049587C>T	uc003dxq.4	-	4	518	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	DPPA4_uc011bho.2_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.E155K	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	155						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						AGGGACGTTTCCCCCTTTTCC	0.458000														97			31		0	0	1	0	0
GSTM5	2949	broad.mit.edu	37	1	110254965	110254965	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110254965C>T	uc001dyn.3	+	0	102	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	GSTM5_uc010ovu.1_5'UTR	NM_000851	NP_000842	P46439	GSTM5_HUMAN	Homo sapiens glutathione S-transferase mu 5 (GSTM5), mRNA.	11	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	p.R11C(2)		NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CTGGGACATCCGTGGGGTAAG	0.637000														221			19		0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55759599	55759599	+	Silent	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55759599C>G	uc010spk.2	+	0	705	c.705C>G	c.(703-705)gcC>gcG	p.A235A		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	235			A -> D (in dbSNP:rs7976416).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GGAAAAAAGCCTTTTCCACTT	0.393000														52			27		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189912956	189912957	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189912956_189912957CC>TT	uc002uqk.3	-	44	3454_3455	c.3179_3180GG>AA	c.(3178-3180)cgg>cAA	p.R1060Q	COL5A2_uc010frx.3_Missense_Mutation_p.R636Q	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1060					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAGCACCATCCCGTCCTGGGGT	0.347000														55			22		0	0	1	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24503662	24503662	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:24503662G>A	uc003nef.3	+	3	637	c.609_splice	c.e3+1	p.P203_splice	ALDH5A1_uc003neg.3_Splice_Site_p.P203_splice	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	203					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CATCACCCCGGTAGGTGACAG	0.562000														40			17		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42695102	42695102	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:42695102C>T	uc021xxv.1	+	4	508	c.371C>T	c.(370-372)tCg>tTg	p.S124L	GHR_uc003jmt.3_Missense_Mutation_p.S117L|GHR_uc003jmu.3_Missense_Mutation_p.S117L|GHR_uc003jmv.2_Missense_Mutation_p.S117L|GHR_uc021xxw.1_Missense_Mutation_p.S117L|GHR_uc021xxx.1_Missense_Mutation_p.S117L|GHR_uc021xxy.1_Missense_Mutation_p.S117L|GHR_uc021xxz.1_Missense_Mutation_p.S117L|GHR_uc021xya.1_Missense_Mutation_p.S117L|GHR_uc021xyb.1_Missense_Mutation_p.S117L|GHR_uc021xyc.1_Missense_Mutation_p.S117L|GHR_uc011cpq.2_5'UTR|GHR_uc021xyd.1_Missense_Mutation_p.S95L	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	117					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTTAATTCATCGTTTACCTCC	0.378000														38			15		0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12184860	12184860	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12184860C>T	uc002mtb.2	+	1	161	c.18C>T	c.(16-18)ttC>ttT	p.F6F	ZNF844_uc010dym.1_5'UTR	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	6	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TGGTGGCTTTCGAGGATGTGG	0.498000														98			51		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4928848	4928848	+	Silent	SNP	G	A	A	rs146129201		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4928848G>A	uc010qyq.2	+	0	249	c.249G>A	c.(247-249)agG>agA	p.R83R		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	83					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)		CCATGTTGAGGGTCTTCTTGT	0.468000														125			35		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33632886	33632886	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33632886C>T	uc021ywr.1	+	12	1529	c.1305C>T	c.(1303-1305)ccC>ccT	p.P435P		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	435					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGTCAGTGCCCGTGTCTGAGA	0.612000														123			25		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169780299	169780299	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169780299C>T	uc002ueo.1	-	27	3925	c.3799G>A	c.(3799-3801)Ggt>Agt	p.G1267S	ABCB11_uc010zda.1_Missense_Mutation_p.G685S|ABCB11_uc010zdb.1_Missense_Mutation_p.G743S	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1267	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CAGGTCCGACCCTCTCTGGCT	0.527000														37			10		0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102824912	102824912	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102824912C>T	uc001phl.3	-	3	639	c.610G>A	c.(610-612)Gat>Aat	p.D204N		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	204					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		CAGGTTTCATCATCATCAAAA	0.408000														53			7		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69000001	69000001	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:69000001G>A	uc003xxv.1	+	18	2097	c.2070G>A	c.(2068-2070)caG>caA	p.Q690Q	PREX2_uc003xxu.1_Silent_p.Q690Q|PREX2_uc011lez.1_Silent_p.Q625Q	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	690	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTGGCTTCCAGATCCGGGGAT	0.443000														148			40		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111981908	111981908	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:111981908G>A	uc003dyu.3	-	9	1282	c.1060C>T	c.(1060-1062)Cga>Tga	p.R354*	SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Nonsense_Mutation_p.R306*	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	354					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TGACCAACTCGAGACAAAACA	0.373000														94			38		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8486289	8486289	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:8486289C>T	uc001mgi.1	-	2	1339	c.420G>A	c.(418-420)acG>acA	p.T140T	STK33_uc001mgj.1_Silent_p.T140T|STK33_uc001mgk.1_Silent_p.T140T|STK33_uc010rbn.1_Silent_p.T99T|STK33_uc001mgl.3_5'UTR|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	140	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	p.T140M(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTGCCCACTTCGTTTCTGTTT	0.413000														84			51		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390632	48390632	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48390632C>T	uc001jez.3	-	0	360	c.246G>A	c.(244-246)ctG>ctA	p.L82L		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	82	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GAGGATCGTTCAGGGAGCTCT	0.612000														59			31		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123759877	123759877	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:123759877G>A	uc004bkv.3	-	20	2768	c.2738C>T	c.(2737-2739)tCa>tTa	p.S913L		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	913					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AGTCTCCAGTGAAAAATTGAT	0.393000														71			14		0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95927254	95927254	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:95927254G>A	uc001teg.3	-	1	923	c.779C>T	c.(778-780)tCc>tTc	p.S260F	USP44_uc001teh.3_Missense_Mutation_p.S260F|USP44_uc009zte.3_Missense_Mutation_p.S257F	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	260					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TTTAACTGAGGAGTCACTGAC	0.393000														98			23		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324936	31324936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:31324936G>A	uc010dmg.1	+	11	5179	c.5124G>A	c.(5122-5124)atG>atA	p.M1708I	ASXL3_uc002kxq.2_Missense_Mutation_p.M1415I	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1708			M -> V (in dbSNP:rs7232237).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CACAGAACATGAAAGCTTCCA	0.552000														69			30		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999275	27999275	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:27999275G>A	uc004dbx.1	-	0	292	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	59										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CATCGTTCAGGAAACCACCAT	0.507000														26			25		0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149627351	149627351	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149627351G>A	uc003lru.2	-	11	1142	c.927C>T	c.(925-927)gcC>gcT	p.A309A	CAMK2A_uc003lrt.2_Silent_p.A309A|CAMK2A_uc010jhe.2_Silent_p.A289A	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	309					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTTCCTGGTGGCCAGCATCG	0.617000														12			4		0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62744636	62744636	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62744636C>T	uc001nwk.3	-	8	1918	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	SLC22A6_uc001nwl.3_Intron|SLC22A6_uc001nwj.3_Intron|SLC22A6_uc001nwm.3_Missense_Mutation_p.E485K	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	529					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						atccctgcttctttctgagTG	0.607000														173			19		0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72540779	72540779	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72540779G>A	uc002jky.1	-	1	730	c.369C>T	c.(367-369)ccC>ccT	p.P123P		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	123	Ig-like V-type.|Pro-rich.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CCTCGACAATGGGATCATGAA	0.577000														53			15		0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75651681	75651681	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:75651681G>A	uc002bah.3	-	16	2064	c.2047C>T	c.(2047-2049)Cgt>Tgt	p.R683C	MAN2C1_uc010bkk.3_Silent_p.F579F|MAN2C1_uc002baf.3_Silent_p.F678F|MAN2C1_uc002bag.3_Silent_p.F678F			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	664					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTTGCACTACGAACACAGGCT	0.622000														60			15		0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43579608	43579608	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43579608C>T	uc001zrf.1	-	5	740	c.735G>A	c.(733-735)gaG>gaA	p.E245E		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	245					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TGGAGTAGTCCTCGCCCCAGT	0.602000														38			12		0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123369776	123369776	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:123369776C>T	uc003pzi.1	+	3	1443	c.574C>T	c.(574-576)Cca>Tca	p.P192S		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	192	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GGATAGTTTCCCAGCGCGATT	0.378000														62			23		0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94580218	94580218	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:94580218C>T	uc001tdc.3	+	3	1657	c.1408C>T	c.(1408-1410)Cct>Tct	p.P470S		NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	470					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						AGCCACAGACCCTCACTGCGG	0.443000														42			10		0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110032729	110032729	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110032729C>T	uc001dxr.3	+	7	1230	c.1215C>T	c.(1213-1215)acC>acT	p.T405T	ATXN7L2_uc001dxs.3_Silent_p.T32T	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	405										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATTATGCAACCCGGCCCCCAC	0.662000														65			22		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54603833	54603833	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:54603833G>A	uc003dhf.3	+	6	736	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E136K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_5'UTR	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	230						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GATTAAATGGGAACCAGATGA	0.393000														13			6		0	0	1	0	0
FAM82A1	151393	broad.mit.edu	37	2	38178625	38178625	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:38178625C>T	uc002rqn.2	+	1	393	c.267C>T	c.(265-267)tcC>tcT	p.S89S	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						GAAATGCTTCCCCTTACTGGC	0.363000														106			43		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10992758	10992758	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:10992758G>A	uc003jfa.1	-	18	3261	c.3116C>T	c.(3115-3117)tCg>tTg	p.S1039L	CTNND2_uc010itt.2_Missense_Mutation_p.S948L|CTNND2_uc011cmy.1_Missense_Mutation_p.S702L|CTNND2_uc011cmz.1_Missense_Mutation_p.S606L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.S631L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1039					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTTGAAGACGAGGCTACAAA	0.542000														129			37		0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42780032	42780032	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:42780032C>T	uc002yzf.1	+	13	2124	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C	MX2_uc002yzg.1_Missense_Mutation_p.R397C|MX2_uc010gop.1_Missense_Mutation_p.R156C	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	674	GED.				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GGAAAAAAATCGCTATTCCTG	0.468000														45			54		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133973	22133973	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22133973G>A	uc010tmd.2	+	0	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTCTCTTCGAAAACACTCA	0.502000														60			30		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5485338	5485338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:5485338C>T	uc002gci.3	-	2	1048	c.493G>A	c.(493-495)Gac>Aac	p.D165N	NLRP1_uc002gcg.1_Missense_Mutation_p.D165N|NLRP1_uc002gch.4_Missense_Mutation_p.D165N|NLRP1_uc002gck.3_Missense_Mutation_p.D165N|NLRP1_uc002gcj.3_Missense_Mutation_p.D165N|NLRP1_uc002gcl.3_Missense_Mutation_p.D165N|NLRP1_uc010clh.3_Missense_Mutation_p.D165N	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	165					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GACTCATGGTCTGGGGAGCTT	0.522000														18			8		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94112962	94112962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94112962C>T	uc001ybv.1	+	33	5788	c.5705C>T	c.(5704-5706)tCc>tTc	p.S1902F	UNC79_uc001ybs.1_Missense_Mutation_p.S1880F	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2057						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						AGATTGGCATCCAGTACTACC	0.393000														44			19		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49211924	49211924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:49211924C>T	uc010zyt.2	-	15	2283	c.2032G>A	c.(2032-2034)Gca>Aca	p.A678T	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.A674T	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	674								p.E678*(1)		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						ATGGATGTTGCCTTGCCGACC	0.552000														103			43		0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62748477	62748477	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62748477G>A	uc001nwk.3	-	5	1350	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	SLC22A6_uc001nwl.3_Silent_p.F339F|SLC22A6_uc001nwj.3_Silent_p.F339F|SLC22A6_uc001nwm.3_Silent_p.F339F	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	339					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGAGGCAGAGGAAGAGGTGGC	0.617000														50			21		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208133	140208133	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140208133C>T	uc003lho.2	+	0	484	c.457C>T	c.(457-459)Cca>Tca	p.P153S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.P153S|PCDHAC2_uc011dab.2_Missense_Mutation_p.P153S	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	168	Cadherin 2.				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)			TTCTGTGTTTCCACTGGAGGG	0.483000														134			38		0	0	1	0	0
ITPA	3704	broad.mit.edu	37	20	3202495	3202495	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3202495C>T	uc002wid.3	+	6	562	c.420C>T	c.(418-420)atC>atT	p.I140I	ITPA_uc002wie.3_Silent_p.I123I|ITPA_uc002wif.3_Non-coding_Transcript	NM_033453	NP_258412	Q9BY32	ITPA_HUMAN	Homo sapiens inosine triphosphatase (nucleoside triphosphate pyrophosphatase) (ITPA), transcript variant 1, mRNA.	140					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						AGGGCCGGATCGTGGCACCCA	0.592000														23			16		0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71705447	71705447	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:71705447G>A	uc001jql.3	+	35	2492	c.1956G>A	c.(1954-1956)ggG>ggA	p.G652G	COL13A1_uc021prz.1_Silent_p.G603G|COL13A1_uc021psa.1_Silent_p.G580G|COL13A1_uc021psb.1_Silent_p.G574G|COL13A1_uc001jqk.2_Silent_p.G630G|COL13A1_uc021psc.1_Silent_p.G621G|COL13A1_uc021psd.1_Silent_p.G603G|COL13A1_uc010qjf.2_Silent_p.G580G|COL13A1_uc021pse.1_Silent_p.G574G|COL13A1_uc021psf.1_Silent_p.G652G|COL13A1_uc021psg.1_Silent_p.G630G|COL13A1_uc021psh.1_Silent_p.G621G	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	652	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GAGACCCTGGGATGACAGGAC	0.527000														18			7		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103897786	103897786	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:103897786C>T	uc001kum.3	+	1	372	c.333C>T	c.(331-333)agC>agT	p.S111S	PPRC1_uc001kun.3_Missense_Mutation_p.A25V|PPRC1_uc010qqj.2_Silent_p.S111S|PPRC1_uc009xxa.3_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATTTTGGGAGCCTTGGAGAGG	0.527000														32			18		0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153913883	153913883	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153913883G>A	uc001fdd.1	-	6	1490	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	363	DENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTGGGGAAGGGAAGGGAACGT	0.592000														29			10		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43501528	43501528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43501528C>T	uc001zrb.4	-	5	1166	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	EPB42_uc001zqz.4_5'UTR|EPB42_uc001zra.4_Missense_Mutation_p.R259Q|EPB42_uc010udm.2_Missense_Mutation_p.R181Q	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	259					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AGGTCGGCCTCGGCCGGTGAG	0.672000														57			6		0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140630507	140630507	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:140630507G>A	uc003yvf.1	-	1	1183	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S	KCNK9_uc003yvg.1_Silent_p.S373S|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	373						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			ACACCTAAACGGACTTCCGGC	0.433000														162			30		0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114090533	114090533	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:114090533A>G	uc011lwp.2	-	0	181	c.181T>C	c.(181-183)Tta>Cta	p.L61L		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CCAAGGAATAAGTACATGGGG	0.413000														86			21		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509295	71509295	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71509295G>A	uc011caw.1	+	8	2433	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	718					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TTATTACAGTGAATTTTACCC	0.388000														92			47		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132471171	132471171	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:132471171C>T	uc001ujn.3	+	5	2194	c.2042C>T	c.(2041-2043)tCc>tTc	p.S681F	EP400_uc021rgq.1_Missense_Mutation_p.S680F|EP400_uc001ujm.3_Missense_Mutation_p.S681F|EP400_uc001ujj.2_Missense_Mutation_p.S644F|EP400_uc001ujk.3_Missense_Mutation_p.S717F	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	717					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCAGGACCCTCCCCTGCTCGA	0.652000														55			41		0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15826536	15826536	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:15826536C>T	uc003gol.1	+	2	503	c.396C>T	c.(394-396)gcC>gcT	p.A132A	CD38_uc021xmk.1_Intron	NM_001775	NP_001766	P28907	CD38_HUMAN	Homo sapiens CD38 molecule (CD38), mRNA.	132					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	NAD+ nucleosidase activity|binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						AAGATCTGGCCCATCAGTTCA	0.418000														76			18		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15290705	15290705	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15290705G>A	uc001iob.3	-	4	694	c.687C>T	c.(685-687)ccC>ccT	p.P229P		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	229						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCGTGGCCAGGGGCACAGTGA	0.602000														83			26		0	0	1	0	0
PANX1	24145	broad.mit.edu	37	11	93912938	93912938	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:93912938C>T	uc001per.3	+	3	1101	c.716C>T	c.(715-717)tCa>tTa	p.S239L	PANX1_uc001peq.3_Missense_Mutation_p.S239L	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	Homo sapiens pannexin 1 (PANX1), mRNA.	239					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCCTCTCCTCACTCTCAGAC	0.468000														83			25		0	0	1	0	0
IL15RA	3601	broad.mit.edu	37	10	6008179	6008179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:6008179C>T	uc021pmo.1	-	2	484	c.470G>A	c.(469-471)aGc>aAc	p.S157N	IL15RA_uc010qau.2_Missense_Mutation_p.S71N|IL15RA_uc021pmp.1_Intron|IL15RA_uc001iiv.3_Missense_Mutation_p.S71N|IL15RA_uc001iiw.3_Missense_Mutation_p.S35N|IL15RA_uc001iiy.3_Intron	NM_001243539	NP_001230468	Q13261	I15RA_HUMAN	Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA.	71					cell proliferation	Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CTCCGTCAGGCTGGACGTGCC	0.552000														35			17		0	0	1	0	0
PDLIM2	64236	broad.mit.edu	37	8	22442865	22442865	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:22442865C>T	uc003xby.3	+	5	1282	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S	PDLIM2_uc003xbx.2_Missense_Mutation_p.P415S|PDLIM2_uc003xca.3_Missense_Mutation_p.P165S|PDLIM2_uc003xcc.2_Missense_Mutation_p.P165S	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN	Homo sapiens PDZ and LIM domain 2 (mystique) (PDLIM2), transcript variant 2, mRNA.	165						actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		CCCGGGCCTCCCCGCTGCTGA	0.677000														16			9		0	0	1	0	0
ARHGAP19	84986	broad.mit.edu	37	10	98995059	98995059	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98995059G>A	uc001knb.3	-	8	1245	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L	ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc001kna.3_Missense_Mutation_p.S391L|ARHGAP19_uc009xvj.3_Missense_Mutation_p.S371L|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Missense_Mutation_p.S194L	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA.	400					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CTGGGTCAATGATTGCTTATT	0.418000														109			43		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73879550	73879550	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:73879550C>T	uc011dyh.2	+	11	1954	c.1607C>T	c.(1606-1608)cCa>cTa	p.P536L	KCNQ5_uc011dyi.2_Missense_Mutation_p.P527L|KCNQ5_uc010kat.3_Missense_Mutation_p.P508L|KCNQ5_uc003pgk.3_Missense_Mutation_p.P517L|KCNQ5_uc011dyj.2_Intron|KCNQ5_uc011dyk.2_Missense_Mutation_p.P267L	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	517					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CTCACCCCACCACTTAAAACT	0.403000														41			6		0	0	1	0	0
PITX1	5307	broad.mit.edu	37	5	134364788	134364788	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:134364788G>A	uc010jea.3	-	2	1019	c.626C>T	c.(625-627)tCg>tTg	p.S209L		NM_002653	NP_002644	P78337	PITX1_HUMAN	Homo sapiens paired-like homeodomain 1 (PITX1), mRNA.	209	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GGACTGCGACGACAGCGGGCT	0.652000														80			16		0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50222931	50222931	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:50222931G>A	uc003cyj.3	+	13	1710	c.1512G>A	c.(1510-1512)gaG>gaA	p.E504E	SEMA3F_uc003cyk.3_Silent_p.E473E	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	504	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		AGGAGTTGGAGGAGCTCATGC	0.647000														23			8		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284502	152284502	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152284502C>T	uc001ezu.1	-	2	2896	c.2860G>A	c.(2860-2862)Gga>Aga	p.G954R	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	954	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGAATGTCCCTCACTGTCA	0.572000									Ichthyosis					376			157		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52901800	52901800	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:52901800G>A	uc002lga.3	-	16	1831	c.1771C>T	c.(1771-1773)Cca>Tca	p.P591S	TCF4_uc021ukg.1_Missense_Mutation_p.P329S|TCF4_uc021ukh.1_Missense_Mutation_p.P329S|TCF4_uc002lfw.4_Missense_Mutation_p.P329S|TCF4_uc010xdu.1_Missense_Mutation_p.P359S|TCF4_uc010xdv.1_Missense_Mutation_p.P359S|TCF4_uc021uki.1_Missense_Mutation_p.P418S|TCF4_uc002lfx.2_Missense_Mutation_p.P418S|TCF4_uc010xdw.1_Missense_Mutation_p.P359S|TCF4_uc002lfy.2_Missense_Mutation_p.P447S|TCF4_uc010xdx.1_Missense_Mutation_p.P465S|TCF4_uc021ukj.1_Missense_Mutation_p.P429S|TCF4_uc021ukk.1_Missense_Mutation_p.P429S|TCF4_uc021ukl.1_Missense_Mutation_p.P486S|TCF4_uc002lfz.2_Missense_Mutation_p.P489S|TCF4_uc010dph.1_Missense_Mutation_p.P489S|TCF4_uc010dpi.3_Missense_Mutation_p.P495S|TCF4_uc010xdy.1_Missense_Mutation_p.P465S	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	489	Helix-loop-helix motif.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCCTGGGGTGGGTTCAGGTCA	0.562000											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		81			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070533	9070533	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9070533G>A	uc002mkp.3	-	2	17117	c.16913C>T	c.(16912-16914)tCc>tTc	p.S5638F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5640	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						GGATGTCATGGAAGGTGACAT	0.527000														16			15		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113943683	113943683	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113943683G>A	uc002tjc.3	+	4	1662	c.1479G>A	c.(1477-1479)ttG>ttA	p.L493L	PSD4_uc002tjd.3_Silent_p.L114L|PSD4_uc002tje.3_Silent_p.L464L|PSD4_uc002tjf.3_Silent_p.L114L	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	493					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTCACTCTTGGAGACGGATG	0.567000														68			26		0	0	1	0	0
NDUFS4	4724	broad.mit.edu	37	5	52978999	52978999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:52978999C>T	uc003jpe.2	+	4	504	c.476C>T	c.(475-477)tCt>tTt	p.S159F		NM_002495	NP_002486	O43181	NDUS4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) (NDUFS4), nuclear gene encoding mitochondrial protein, mRNA.	159					brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3)	10		Lung NSC(810;8.27e-05)|Breast(144;0.0848)			NADH(DB00157)	AAGTCCAAGTCTTATGGTGCA	0.393000														133			30		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877816	130877816	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:130877816C>T	uc010fmh.2	-	2	673	c.273G>A	c.(271-273)atG>atA	p.M91I		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	91						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGAGTGTCTTCATAGCAGAGT	0.617000														340			38		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249533	52249533	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52249533G>A	uc021uyn.1	-	2	861	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	FPR1_uc002pxq.3_Missense_Mutation_p.P239S|FPR1_uc021uyo.1_Missense_Mutation_p.P239S	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	239					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)	ACCCGTAAGGGACGACTGGAC	0.507000														48			19		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255006	15255006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15255006C>T	uc001iob.3	-	7	2588	c.2581G>A	c.(2581-2583)Gaa>Aaa	p.E861K		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	861						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCATCGTCTTCCTCTTCCTCG	0.587000														172			64		0	0	1	0	0
GALC	2581	broad.mit.edu	37	14	88414169	88414169	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:88414169G>A	uc001xvt.3	-	12	1499	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Silent_p.F441F|GALC_uc010tvx.2_Silent_p.F438F|GALC_uc010tvz.1_Silent_p.F408F	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	464					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGTGAGTGTGAACAGCTCAT	0.488000														73			23		0	0	1	0	0
CDK1	983	broad.mit.edu	37	10	62552004	62552004	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:62552004C>T	uc001jld.3	+	6	894	c.752C>T	c.(751-753)tCc>tTc	p.S251F	CDK1_uc001jlg.3_Missense_Mutation_p.S194F|CDK1_uc001jle.3_Non-coding_Transcript	NM_001786	NP_001777	P06493	CDK1_HUMAN	Homo sapiens cyclin-dependent kinase 1 (CDK1), transcript variant 1, mRNA.	251	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|regulation of transcription involved in G1/S phase of mitotic cell cycle|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|midbody|nucleoplasm|spindle microtubule	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity			ovary(1)	1						AGCCTAGCATCCCATGTCAAA	0.403000														53			27		0	0	1	0	0
RAD51AP1	10635	broad.mit.edu	37	12	4662197	4662198	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4662197_4662198AC>TT	uc001qmw.3	+	7	812_813	c.656_657AC>TT	c.(655-657)gac>gTT	p.D219V	RAD51AP1_uc001qmu.3_Missense_Mutation_p.D202V|RAD51AP1_uc010sep.2_Missense_Mutation_p.D84V|RAD51AP1_uc010seq.2_Missense_Mutation_p.D84V|RAD51AP1_uc009zeg.3_Non-coding_Transcript	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	Homo sapiens RAD51 associated protein 1 (RAD51AP1), transcript variant 1, mRNA.	219					double-strand break repair via homologous recombination		RNA binding|double-stranded DNA binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			GAGGATAATGACGAAGACTTCT	0.317000														37			10		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24509770	24509770	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:24509770G>A	uc003jgr.2	-	6	1667	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	387	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		ACAGATAGGAGGACCTACTAA	0.393000										HNSCC(23;0.051)				53			27		0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14765924	14765924	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:14765924C>T	uc002mzi.4	-	5	595	c.447G>A	c.(445-447)tgG>tgA	p.W149*	EMR3_uc010dzp.3_Nonsense_Mutation_p.W97*|EMR3_uc010xnv.2_Intron	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	149					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTTCTGTTCTCCATAAAGTCT	0.368000														101			14		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604068	54604068	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:54604068G>A	uc003dhf.3	+	7	873	c.825G>A	c.(823-825)gcG>gcA	p.A275A	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.A181A|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.A9A	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	275	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGACTATCGCGAAGCAAACAG	0.473000														108			51		0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39969292	39969292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39969292C>T	uc002hxv.2	+	0	331	c.6C>T	c.(4-6)ttC>ttT	p.F2F	LEPREL4_uc002hxt.3_5'Flank|LEPREL4_uc002hxu.3_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	2					protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GCACCATGTTCCCCGCGGGCC	0.731000														14			8		0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108475956	108475956	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108475956G>A	uc003dxh.2	-	0	175	c.77C>T	c.(76-78)tCc>tTc	p.S26F		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	26					cell proliferation	extracellular region	hormone activity	p.C25C(1)		endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GGAGTCTAAGGAACACTGAGT	0.532000														21			12		0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113237474	113237474	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:113237474C>T	uc001eck.3	+	9	1846	c.1576C>T	c.(1576-1578)Cca>Tca	p.P526S	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Missense_Mutation_p.P526S|MOV10_uc001ecm.3_Missense_Mutation_p.P466S|MOV10_uc009wgj.1_Missense_Mutation_p.P466S	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	526					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding	p.P526L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CTTTGGGCCTCCAGGCACCGG	0.597000														65			5		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229826	39229826	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:39229826C>T	uc003cjk.2	-	1	1340	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	XIRP1_uc003cji.3_Missense_Mutation_p.E371K|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.E371K	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	371							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)		ACCACTTCCTCCTTGGGTGGG	0.582000														177			72		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106285	55106285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55106285G>A	uc002qgh.1	+	3	408	c.226G>A	c.(226-228)Gag>Aag	p.E76K	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.E76K	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	76	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.E76K(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GATCCCACAGGAGATTGTGAA	0.557000														106			47		0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77816807	77816807	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77816807G>A	uc003hki.3	-	0	2196	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	732																	GATAGACAGGGAAAATGGGCT	0.502000														229			105		0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138687872	138687872	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:138687872C>T	uc011mwn.1	-	16	1998	c.1992_splice	c.e16+1	p.L664_splice	MCF2_uc004fav.3_Splice_Site_p.L535_splice|MCF2_uc004fau.3_Splice_Site_p.L519_splice|MCF2_uc010nsh.2_Splice_Site_p.L519_splice|MCF2_uc011mwm.2_Splice_Site_p.L480_splice|MCF2_uc011mwl.2_Splice_Site_p.L496_splice|MCF2_uc011mwo.1_Splice_Site_p.L595_splice|MCF2_uc004faw.2_Splice_Site_p.L579_splice	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	519	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)					AGTCGCTTACCAACAAAACAG	0.363000														63			83		0	0	1	0	0
DAND5	199699	broad.mit.edu	37	19	13084385	13084385	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:13084385C>T	uc002mwc.1	+	1	658	c.507C>T	c.(505-507)tcC>tcT	p.S169S	DAND5_uc010dyz.1_3'UTR	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	Homo sapiens DAN domain family, member 5 (DAND5), mRNA.	169	CTCK.					extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			GCTCAGCCTCCCGTCGACGGG	0.612000														84			37		0	0	1	0	0
ARGLU1	55082	broad.mit.edu	37	13	107220265	107220265	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:107220265C>A	uc001vqk.4	-	0	250	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN	Homo sapiens arginine and glutamate rich 1 (ARGLU1), mRNA.	1										large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GAGACCGGCCCATCCTTCCGG	0.697000														34			10		0.000978159	0.000979125	1	1	0
C2orf42	54980	broad.mit.edu	37	2	70402845	70402845	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:70402845G>A	uc002sgh.3	-	4	1327	c.999C>T	c.(997-999)ggC>ggT	p.G333G		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	333										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						GCTTTTTCAGGCCACTTTTCC	0.433000														254			96		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167045758	167045758	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:167045758C>T	uc011bpc.2	-	10	1171	c.834G>A	c.(832-834)aaG>aaA	p.K278K	ZBBX_uc003feq.3_Silent_p.K249K|ZBBX_uc003fep.3_Silent_p.K278K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	278						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATTCTGTTTCTTGTTGTCAT	0.418000														91			50		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32525063	32525063	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:32525063C>T	uc002yow.1	-	19	3729	c.3257G>A	c.(3256-3258)gGa>gAa	p.G1086E	TIAM1_uc011adk.1_Missense_Mutation_p.G1086E|TIAM1_uc011adl.1_Missense_Mutation_p.G1026E	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1086	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	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGTTAAATTTCCAAAAAGCAC	0.333000														46			15		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754377	49754377	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:49754377G>A	uc003ozu.3	-	0	677	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	175					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TCCCACCATGGAACTATGAGC	0.473000														61			44		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767669	57767669	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:57767669C>T	uc002yan.3	+	0	1595	c.1595C>T	c.(1594-1596)cCt>cTt	p.P532L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	532						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACGCAGAAGCCTCTGAGCCCC	0.721000														4			4		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503592	140503592	+	Missense_Mutation	SNP	C	T	T	rs146284769		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140503592C>T	uc003lip.1	+	0	2012	c.2012C>T	c.(2011-2013)cCt>cTt	p.P671L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	671					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTACCTGCCTCTCCCTGAG	0.682000														153			35		0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72300277	72300277	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:72300277C>T	uc010rrc.2	-	11	1127	c.881G>A	c.(880-882)gGa>gAa	p.G294E	PDE2A_uc001oso.3_Missense_Mutation_p.G273E|PDE2A_uc010rra.2_Missense_Mutation_p.G287E|PDE2A_uc001osn.3_Intron|PDE2A_uc010rrb.2_Missense_Mutation_p.G285E|PDE2A_uc010rrd.2_Missense_Mutation_p.G179E	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	294	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GCCCAGGCATCCTGTCAACTA	0.577000														17			6		0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35802909	35802909	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35802909G>A	uc002nyy.2	+	9	1903	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	MAG_uc002nyx.2_Missense_Mutation_p.E569K|MAG_uc010eds.2_Missense_Mutation_p.E544K|MAG_uc002nyz.2_Missense_Mutation_p.E569K	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	569					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGGGGCACCAGAGAAGTACGA	0.637000														19			3		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128990073	128990073	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:128990073G>A	uc003kvb.1	+	13	2233	c.2233G>A	c.(2233-2235)Gga>Aga	p.G745R	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.	745	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G745R(2)|p.D744Y(1)		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)		AGTGATGGATGGAACTTCTTG	0.353000														95			13		0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78466040	78466040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:78466040C>T	uc002bdh.3	-	12	2190	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K	ACSBG1_uc010umx.2_Missense_Mutation_p.E420K|ACSBG1_uc010umw.2_Missense_Mutation_p.E658K	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	662					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						ATCCCCTCTTCGATGGCCTGG	0.582000														110			11		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180041160	180041160	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:180041160C>T	uc003mlz.4	-	23	3318	c.3239G>A	c.(3238-3240)tGg>tAg	p.W1080*	FLT4_uc003mma.4_Nonsense_Mutation_p.W1080*	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1080	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGGGGCCATCCACTTCAGGGG	0.617000														81			32		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152507129	152507129	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152507129C>T	uc021vrb.1	-	50	7215	c.7186G>A	c.(7186-7188)Gat>Aat	p.D2396N	NEB_uc002txu.3_Missense_Mutation_p.D2396N|NEB_uc021vrc.1_Missense_Mutation_p.D2396N|NEB_uc010fnx.3_Missense_Mutation_p.D2396N|NEB_uc021vrd.1_Missense_Mutation_p.D2396N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2396					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCACAACATCGTTCTGATCA	0.388000														172			67		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17743712	17743712	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17743712C>T	uc021uqk.1	-	27	3346	c.3304G>A	c.(3304-3306)Gac>Aac	p.D1102N		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1103	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGATGCTTGTCGTGCTCTGGC	0.537000														38			17		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976471	38976471	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38976471C>T	uc002oit.3	+	33	5306	c.5176C>T	c.(5176-5178)Cgc>Tgc	p.R1726C	RYR1_uc002oiu.3_Missense_Mutation_p.R1726C	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1726	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S1725I(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGCCGCAGCCGCCGCTCCAT	0.647000														69			33		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16894480	16894480	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16894480C>T	uc009vos.1	-	23	3548	c.2660G>A	c.(2659-2661)gGt>gAt	p.G887D	NBPF1_uc009vot.1_Missense_Mutation_p.G345D|NBPF1_uc001ayz.1_Missense_Mutation_p.G345D|NBPF1_uc010oce.1_Missense_Mutation_p.G616D	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	887	NBPF 4.					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)		TCACCTGGGACCTGTTGCCTC	0.438000														439			37		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39879646	39879646	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:39879646G>A	uc001zkh.3	+	7	1398	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	THBS1_uc010bbi.3_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	407	TSP type-1 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CCGCTCCTGCGATAGCCTCAA	0.587000														30			13		0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22310748	22310748	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22310748C>T	uc001bfk.3	+	5	681	c.566C>T	c.(565-567)tCc>tTc	p.S189F	CELA3B_uc009vqf.3_Intron	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	189	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GAACACTGCTCCAGGTGGAAC	0.607000														61			33		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2129298	2129298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2129298C>T	uc002con.3	+	27	3259	c.3153C>T	c.(3151-3153)ctC>ctT	p.L1051L	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.L1051L|TSC2_uc002coo.3_Silent_p.L1007L|TSC2_uc010uvv.2_Silent_p.L971L|TSC2_uc010uvw.2_Silent_p.L959L|TSC2_uc002cop.3_Silent_p.L807L	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1051					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCGAGTTCCTCCTAGCGGGTG	0.637000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					45			28		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246224	56246224	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:56246224G>A	uc002lhj.4	-	3	1998	c.1784C>T	c.(1783-1785)tCc>tTc	p.S595F		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	595							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATCAGCATGGGAACTCCGACC	0.488000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			26		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124268560	124268560	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124268560G>A	uc001uft.4	+	7	908	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	295	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGCGCTGCATGAACAAACAAA	0.443000														52			23		0	0	1	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80583494	80583494	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:80583494G>A	uc002ffo.3	+	2	313	c.193G>A	c.(193-195)Gac>Aac	p.D65N	DYNLRB2_uc002ffp.3_Non-coding_Transcript|DYNLRB2_uc002ffq.3_Non-coding_Transcript	NM_130897	NP_570967	Q8TF09	DLRB2_HUMAN	Homo sapiens dynein, light chain, roadblock-type 2 (DYNLRB2), mRNA.	65					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity	p.N64N(1)		large_intestine(1)|lung(4)|prostate(1)	6						TCCTCAGAACGACCTGACTTT	0.383000														51			20		0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97143773	97143773	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:97143773G>A	uc001kkp.3	-	14	1552	c.1507C>T	c.(1507-1509)Cgc>Tgc	p.R503C	SORBS1_uc001kkk.3_Missense_Mutation_p.R81C|SORBS1_uc001kkl.3_Missense_Mutation_p.R105C|SORBS1_uc001kkn.3_Missense_Mutation_p.R290C|SORBS1_uc001kkm.3_Missense_Mutation_p.R359C|SORBS1_uc001kko.3_Missense_Mutation_p.R525C|SORBS1_uc001kkq.3_Missense_Mutation_p.R388C|SORBS1_uc001kkr.3_Missense_Mutation_p.R293C|SORBS1_uc001kks.3_Missense_Mutation_p.R293C|SORBS1_uc001kkt.3_Non-coding_Transcript|SORBS1_uc001kku.3_Missense_Mutation_p.R334C|SORBS1_uc001kkv.3_Missense_Mutation_p.R425C|SORBS1_uc001kkw.3_Missense_Mutation_p.R457C|SORBS1_uc010qoe.2_Missense_Mutation_p.R302C|SORBS1_uc010qof.1_Missense_Mutation_p.R655C	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	503					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAGGAAGAGCGGGCTGGGAGG	0.517000														87			33		0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899665	233899666	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233899665_233899666CC>TT	uc010zmn.2	+	1	1041_1042	c.1041_1042CC>TT	c.(1039-1044)tccccc>tcTTcc	p.P348S		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	348							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CTGATGGGTCCCCCTTGTTTGG	0.589000														177			78		0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234750088	234750088	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234750088G>A	uc002vvg.3	-	7	1404	c.1338C>T	c.(1336-1338)tgC>tgT	p.C446C	HJURP_uc010znd.2_Silent_p.C385C|HJURP_uc010zne.2_Silent_p.C354C	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	446					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TGGGACTCAGGCAATATTCCC	0.547000														112			33		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577424	179577424	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179577424C>T	uc021vsy.1	-	91	23821	c.23596_splice	c.e91+1	p.A7866_splice	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Splice_Site_p.A4527_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8793	Ig-like 61.						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)			TCTGACAAACCTTTTATGTAG	0.338000														82			32		0	0	1	0	0
GALNTL1	57452	broad.mit.edu	37	14	69818888	69818888	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:69818888G>A	uc001xlb.2	+	15	2006	c.1679_splice	c.e15+1		GALNTL1_uc010aqu.2_3'UTR	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.							Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		ACACATGACGGTAGCCCTGGG	0.612000														18			6		0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44198553	44198553	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:44198553C>T	uc003oww.1	+	8	1122	c.930C>T	c.(928-930)ttC>ttT	p.F310F	SLC29A1_uc003owu.1_Silent_p.F231F|SLC29A1_uc003owv.1_Silent_p.F231F|SLC29A1_uc003owx.1_Silent_p.F231F|SLC29A1_uc003owy.1_Silent_p.F231F|SLC29A1_uc003owz.1_Silent_p.F231F	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	231					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	p.A309A(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	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)		Troglitazone(DB00197)	GATAGGAATTCTACCGCTACT	0.547000														82			29		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191385	152191385	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152191385C>T	uc001ezt.1	-	2	2796	c.2720G>A	c.(2719-2721)gGc>gAc	p.G907D		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	907					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCATGTCGGCCATAGCTGGG	0.652000														191			72		0	0	1	0	0
SCN2B	6327	broad.mit.edu	37	11	118037788	118037788	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118037788C>T	uc001psf.2	-	3	653	c.462G>A	c.(460-462)cgG>cgA	p.R154R		NM_004588	NP_004579	O60939	SCN2B_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, beta (SCN2B), mRNA.	154	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		CCGTGGAGTCCCGCTCAGGGG	0.617000														48			21		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49001530	49001530	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49001530C>T	uc002pjk.3	-	11	2883	c.2883G>A	c.(2881-2883)ggG>ggA	p.G961G		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTCTCTGGTCCCCGTTCTCCA	0.642000														52			25		0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288272	132288272	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:132288272C>T	uc002tta.3	+	2	468	c.416C>T	c.(415-417)tCc>tTc	p.S139F	CCDC74A_uc002ttb.3_Intron|CCDC74A_uc021vpq.1_Missense_Mutation_p.S139F|CCDC74A_uc021vpr.1_Missense_Mutation_p.S181F	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	139										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AAGGAGGGCTCCTCACGGACA	0.662000														92			21		0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132400719	132400719	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:132400719C>T	uc003kyj.3	+	1	436	c.155C>T	c.(154-156)gCt>gTt	p.A52V		NM_002154	NP_002145	P34932	HSP74_HUMAN	Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA.	52					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAGCAGCAGCTAAAAGCCAG	0.348000														108			12		0	0	1	0	0
TRAPPC3	27095	broad.mit.edu	37	1	36605347	36605347	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:36605347G>A	uc001bzx.3	-	2	302	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W		NM_014408	NP_055223	O43617	TPPC3_HUMAN	Homo sapiens trafficking protein particle complex 3 (TRAPPC3), mRNA.	72						endoplasmic reticulum	guanylate cyclase activity|heme binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				GCAGTTTCCCGAAAGTCATGG	0.488000														43			18		0	0	1	0	0
TMEM48	55706	broad.mit.edu	37	1	54272177	54272177	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:54272177G>A	uc001cvs.3	-	8	1196	c.905C>T	c.(904-906)cCt>cTt	p.P302L	TMEM48_uc010onu.2_Missense_Mutation_p.P262L|TMEM48_uc001cvt.3_Missense_Mutation_p.P179L|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_5'UTR	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	302					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore	p.P302H(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						TGGTTGAACAGGAAACACATG	0.348000														72			21		0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201868737	201868737	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201868737G>A	uc021phl.1	-	1	1652	c.1404C>T	c.(1402-1404)agC>agT	p.S468S	LMOD1_uc021phm.1_Silent_p.S468S|LMOD1_uc010ppu.2_Silent_p.S417S	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	468					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCATGTTGCGGCTGAGCAGAT	0.572000														16			6		0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6440044	6440044	+	Silent	SNP	C	T	T	rs104895272		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6440044C>T	uc001qnu.3	-	5	903	c.600G>A	c.(598-600)gaG>gaA	p.E200E	TNFRSF1A_uc001qnt.3_Silent_p.E92E|TNFRSF1A_uc010sey.2_5'UTR|TNFRSF1A_uc010sez.2_Silent_p.E92E|TNFRSF1A_uc009zek.3_Silent_p.E157E	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	200					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CCTTAACATTCTCAATCTGGG	0.552000														41			13		0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30432457	30432457	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30432457C>T	uc002wwt.1	-	0	964	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	297					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA 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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						ACCCAGGGTTCCTTGTGGTCA	0.652000														31			13		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50661436	50661436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:50661436C>T	uc001csb.2	+	4	980	c.712C>T	c.(712-714)Cac>Tac	p.H238Y	ELAVL4_uc001cry.3_Missense_Mutation_p.H241Y|ELAVL4_uc001crz.3_Missense_Mutation_p.H238Y|ELAVL4_uc001csa.3_Missense_Mutation_p.H255Y|ELAVL4_uc001csc.3_Missense_Mutation_p.H238Y|ELAVL4_uc009vyu.3_Missense_Mutation_p.H243Y|ELAVL4_uc010omz.2_Missense_Mutation_p.H243Y	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	238					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						AGGTCCACTTCACCACCAGGC	0.597000														83			29		0	0	1	0	0
MMP24	10893	broad.mit.edu	37	20	33842389	33842389	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33842389G>A	uc002xbu.2	+	3	652	c.649G>A	c.(649-651)Gag>Aag	p.E217K	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	217					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.K216K(1)		NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGACCGGAAGGAGGCAGACAT	0.537000														230			63		0	0	1	0	0
AHSP	51327	broad.mit.edu	37	16	31539877	31539877	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31539877G>A	uc002ecj.3	+	2	259	c.174G>A	c.(172-174)ggG>ggA	p.G58G		NM_016633	NP_057717	Q9NZD4	AHSP_HUMAN	Homo sapiens alpha hemoglobin stabilizing protein (AHSP), mRNA.	58					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						AGGTGACAGGGGAGCCCCAAG	0.532000														54			12		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3607626	3607626	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3607626G>A	uc010btn.3	-	6	2478	c.2067C>T	c.(2065-2067)tcC>tcT	p.S689S	NLRC3_uc010bto.1_5'Flank	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	689					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGACCAAGAGGGATCTGGCCA	0.498000														22			6		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42116018	42116018	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42116018C>T	uc001zok.4	+	29	4276	c.3990C>T	c.(3988-3990)ttC>ttT	p.F1330F	MAPKBP1_uc010bci.3_Intron|MAPKBP1_uc010udb.2_Silent_p.F1163F|MAPKBP1_uc001zoj.4_Silent_p.F1324F|MAPKBP1_uc010bcj.3_Silent_p.F831F|MAPKBP1_uc010bck.3_Silent_p.F541F|MAPKBP1_uc010bcl.3_Silent_p.F831F	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	1330										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGCCTGGCTTCCCGGTGGGCC	0.612000														96			49		0	0	1	0	0
RNF14	9604	broad.mit.edu	37	5	141359747	141359747	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:141359747C>A	uc003llz.3	+	5	1142	c.894C>A	c.(892-894)tcC>tcA	p.S298S	RNF14_uc003lly.3_Silent_p.S298S|RNF14_uc003lma.3_Silent_p.S298S|RNF14_uc003lmb.3_Silent_p.S172S|RNF14_uc003lmc.3_Silent_p.S298S|RNF14_uc011dbg.2_Silent_p.S122S|RNF14_uc011dbh.2_Intron|RNF14_uc003lmd.3_Silent_p.S298S	NM_001201365	NP_001188294	Q9UBS8	RNF14_HUMAN	Homo sapiens ring finger protein 14 (RNF14), transcript variant 6, mRNA.	298					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TCCTCCAGTCCTCCTTGGACC	0.542000														185			41		2.24722e-20	2.25956e-20	1	1	0
NPR2	4882	broad.mit.edu	37	9	35801756	35801756	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35801756C>T	uc003zyd.3	+	7	1553	c.1553C>T	c.(1552-1554)tCg>tTg	p.S518L	NPR2_uc010mlb.3_Missense_Mutation_p.S518L	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	518	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTCACACTGTCGCTGGTGAGC	0.542000														95			19		0	0	1	0	0
TSSK4	283629	broad.mit.edu	37	14	24675162	24675162	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24675162A>G	uc001wnh.3	+	0	237	c.33A>G	c.(31-33)ccA>ccG	p.P11P	TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.3_Intron|TSSK4_uc001wnf.3_Intron|TSSK4_uc001wng.3_Silent_p.P11P	NM_001184739	NP_001171668	Q6SA08	TSSK4_HUMAN	Homo sapiens testis-specific serine kinase 4 (TSSK4), transcript variant 1, mRNA.	11					cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		AGGCAGCACCAACCACCACAG	0.522000														64			16		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25280503	25280503	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25280503G>A	uc010aaa.3	+	14	2422	c.2089G>A	c.(2089-2091)Gaa>Aaa	p.E697K	ATP12A_uc001upp.3_Missense_Mutation_p.E691K	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	691					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CATGAGCTCAGAACAGCTGGA	0.562000														56			22		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76449531	76449531	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76449531C>T	uc010dhp.2	-	64	10548	c.10423G>A	c.(10423-10425)Gag>Aag	p.E3475K	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATGGCCTGCTCGATGACATCC	0.607000														42			7		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157772251	157772251	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157772251C>T	uc001frg.3	-	3	636	c.523G>A	c.(523-525)Gag>Aag	p.E175K	FCRL1_uc001frf.3_5'Flank|FCRL1_uc001frh.3_Missense_Mutation_p.E175K|FCRL1_uc001fri.3_Missense_Mutation_p.E175K|FCRL1_uc001frj.3_Intron	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	175	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity	p.E175*(3)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCATCACTCTCCCTCACTGAA	0.488000														72			28		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129207226	129207226	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:129207226G>A	uc003eml.3	+	16	2337	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	IFT122_uc003emm.3_Missense_Mutation_p.E660K|IFT122_uc003emn.3_Missense_Mutation_p.E601K|IFT122_uc003emo.3_Missense_Mutation_p.E549K|IFT122_uc003emp.3_Missense_Mutation_p.E510K|IFT122_uc010htc.3_Missense_Mutation_p.E652K|IFT122_uc011bky.2_Missense_Mutation_p.E451K|IFT122_uc011bla.2_Missense_Mutation_p.E451K|IFT122_uc003emr.3_Missense_Mutation_p.E451K|IFT122_uc010hte.3_Missense_Mutation_p.E40K|IFT122_uc003ems.3_Missense_Mutation_p.E59K|IFT122_uc011bkx.1_Missense_Mutation_p.E500K|IFT122_uc011bkz.1_Non-coding_Transcript|IFT122_uc010htd.1_Missense_Mutation_p.E139K	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	660					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						TTTAGATTTTGAAACAGCAAA	0.517000														58			14		0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15535087	15535087	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15535087G>A	uc002nbc.3	-	6	2677	c.2654C>T	c.(2653-2655)cCa>cTa	p.P885L	WIZ_uc002nba.4_Missense_Mutation_p.P752L|WIZ_uc002nbb.4_Missense_Mutation_p.P711L	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1568						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GACTCGGGGTGGGGGTTGCCG	0.647000														30			10		0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6386953	6386953	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:6386953G>A	uc002gdd.4	-	5	622	c.471C>T	c.(469-471)ttC>ttT	p.F157F	PITPNM3_uc010cln.3_Silent_p.F121F|PITPNM3_uc002gdc.4_5'Flank	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	157					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GCACGGAGCTGAAGGTGTGGA	0.617000														30			16		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033245	82033245	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:82033245C>T	uc002fgu.3	-	2	781	c.653G>A	c.(652-654)aGc>aAc	p.S218N		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	218					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CTCAACCAGGCTCCTGGGGTC	0.557000														141			51		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113508735	113508735	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:113508735G>A	uc003iau.3	-	11	3689	c.3478C>T	c.(3478-3480)Cca>Tca	p.P1160S	C4orf21_uc003iav.3_Non-coding_Transcript	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ACTCTGTTTGGAGTAGCCACG	0.408000														154			87		0	0	1	0	0
DBN1	1627	broad.mit.edu	37	5	176885201	176885201	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176885201T>G	uc003mgx.2	-	12	1922	c.1640A>C	c.(1639-1641)gAc>gCc	p.D547A	DBN1_uc011dga.1_Missense_Mutation_p.D277A|DBN1_uc003mgy.2_Missense_Mutation_p.D545A|DBN1_uc010jkn.1_Missense_Mutation_p.D495A|DBN1_uc003mgz.1_Missense_Mutation_p.D528A	NM_080881	NP_543157	Q16643	DREB_HUMAN	Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.	545					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCTCTGGGTCACAGAAGGT	0.652000														64			10		0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198013	15198013	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15198013T>A	uc010xoe.2	+	0	137	c.137T>A	c.(136-138)aTc>aAc	p.I46N		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						GCCCTCATTATCCTGGCCATC	0.512000														52			28		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31532917	31532917	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31532917G>A	uc003aka.3	-	4	1305	c.1176C>T	c.(1174-1176)ctC>ctT	p.L392L		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	392					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TGCAGTGGAAGAGGGGCTCTT	0.687000														19			6		0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868820	22868820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22868820G>A	uc002zwe.3	-	1	1388	c.1135C>T	c.(1135-1137)Ctc>Ttc	p.L379F	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.L379F	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TGTTGTAAGAGGACCTGATCT	0.473000														144			9		0	0	1	0	0
POMT2	29954	broad.mit.edu	37	14	77778331	77778331	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:77778331G>A	uc001xti.2	-	1	495	c.294C>T	c.(292-294)aaC>aaT	p.N98N	POMT2_uc010asr.2_Intron	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.	98					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		AAAATGTACGGTTGATATAGT	0.418000														55			8		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21165309	21165309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:21165309G>A	uc002zsz.4	-	8	1104	c.843C>T	c.(841-843)atC>atT	p.I281I	PI4KA_uc010gsq.2_Silent_p.I367I	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	281					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCTCCTCAACGATCTTCTTCA	0.458000														85			35		0	0	1	0	0
OR4F15	390649	broad.mit.edu	37	15	102358521	102358521	+	Silent	SNP	C	T	T	rs143311907		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:102358521C>T	uc010uts.2	+	0	132	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GAAACCTTGTCATTGTATTCA	0.413000														384			24		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52000608	52000608	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52000608G>A	uc002pwx.1	-	5	1553	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	SIGLEC12_uc002pww.1_Silent_p.F381F|SIGLEC12_uc010eoy.1_Silent_p.F226F	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	499					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCACACAACGAAGATGATGC	0.572000														79			33		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81173324	81173324	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:81173324G>A	uc002bfw.1	+	4	724	c.464G>A	c.(463-465)gGa>gAa	p.G155E	KIAA1199_uc010unn.1_Missense_Mutation_p.G155E	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	155	G8.							p.G155G(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAGTTGCATGGACAGAAAAAG	0.502000														159			39		0	0	1	0	0
BANP	54971	broad.mit.edu	37	16	88066771	88066771	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:88066771C>T	uc002fkr.3	+	8	1317	c.1096C>T	c.(1096-1098)Ccg>Tcg	p.P366S	BANP_uc010vov.2_Missense_Mutation_p.P341S|BANP_uc002fkq.3_Missense_Mutation_p.P335S|BANP_uc002fks.4_Missense_Mutation_p.P335S|BANP_uc002fkp.3_Missense_Mutation_p.P335S|BANP_uc010vow.2_Missense_Mutation_p.P374S|BANP_uc021tml.1_Missense_Mutation_p.P374S|BANP_uc002fko.1_Missense_Mutation_p.P271S	NM_001173543	NP_001167014	Q8N9N5	BANP_HUMAN	Homo sapiens BTG3 associated nuclear protein (BANP), transcript variant 7, mRNA.	366	DNA-binding (By similarity).|Gln-rich.				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		ACAGCCGCAGCCGCAGGCCCT	0.627000														27			7		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827096	96827096	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96827096C>T	uc001kkb.3	-	2	445	c.350G>A	c.(349-351)gGa>gAa	p.G117E	CYP2C8_uc010qoa.2_Missense_Mutation_p.G47E|CYP2C8_uc010qoc.2_Missense_Mutation_p.G15E|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.G31E|CYP2C8_uc021pwl.1_Missense_Mutation_p.G47E|CYP2C8_uc010qod.1_Missense_Mutation_p.G31E	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	117					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCATCTCTTTCCATTGCTGGA	0.488000														77			27		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6941024	6941024	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6941024G>A	uc001qra.1	+	6	1189	c.1155G>A	c.(1153-1155)gaG>gaA	p.E385E	GPR162_uc001qrb.1_Silent_p.E193E	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	472						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						CCCTGGGGGAGAAGAGGCAGC	0.612000														10			7		0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4445806	4445806	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:4445806G>A	uc002fxz.4	-	21	3102	c.3040C>T	c.(3040-3042)Ccc>Tcc	p.P1014S	MYBBP1A_uc002fyb.4_Missense_Mutation_p.P1014S|MYBBP1A_uc002fya.4_5'Flank|MYBBP1A_uc010vsa.2_Missense_Mutation_p.P56S	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	1014					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACCAGGATGGGGAGCAGGCTC	0.637000														40			32		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236208779	236208779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:236208779C>T	uc001hxo.3	-	2	832	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	NID1_uc009xgd.3_Missense_Mutation_p.E244K	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	244	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCAACTGATTCCCTGTCATTA	0.363000														60			26		0	0	1	0	0
TMEM161A	54929	broad.mit.edu	37	19	19231957	19231957	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19231957G>A	uc002nlg.3	-	9	963	c.933C>T	c.(931-933)ttC>ttT	p.F311F	TMEM161A_uc002nli.3_Silent_p.F208F	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	Homo sapiens transmembrane protein 161A (TMEM161A), mRNA.	311					cellular response to UV|cellular response to oxidative stress|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			GCCCAGAGTCGAAGGCAGAAT	0.697000														21			6		0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962862	69962862	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69962862G>A	uc003heg.4	+	0	670	c.624G>A	c.(622-624)atG>atA	p.M208I	UGT2B7_uc010ihq.3_Missense_Mutation_p.M208I	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	208					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGACTTTCATGGAGAGGGTAA	0.358000														88			27		0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651377	96651377	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:96651377G>A	uc003pop.4	+	2	687	c.346G>A	c.(346-348)Gat>Aat	p.D116N	FUT9_uc021zcw.1_Missense_Mutation_p.D116N	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	116					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CATCAGTTGGGATCTGACAAA	0.463000														30			16		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2110321	2110321	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:2110321C>T	uc003zhc.3	+	23	3459	c.3360C>T	c.(3358-3360)ttC>ttT	p.F1120F	SMARCA2_uc003zhd.3_Silent_p.F1120F|SMARCA2_uc010mha.3_Silent_p.F1053F	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1120	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCCAGTATTTCATTTTCTTGC	0.453000														57			26		0	0	1	0	0
STARD6	147323	broad.mit.edu	37	18	51863599	51863599	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:51863599G>A	uc010xdt.2	-	2	163	c.163C>T	c.(163-165)Cca>Tca	p.P55S		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	55	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GGTGATTCTGGAATTATCCCT	0.313000														64			21		0	0	1	0	0
C15orf43	145645	broad.mit.edu	37	15	45248981	45248981	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45248981G>A	uc001zuk.3	+	1	78	c.64_splice	c.e1+1	p.V22_splice		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.	22										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		CAATTCTGGGGTAGGAAGCTG	0.582000														61			23		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60212997	60212997	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:60212997G>A	uc001xen.1	-	1	653	c.444C>T	c.(442-444)ccC>ccT	p.P148P		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	148					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.P148S(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGGTAAGGAGGGGCCGGGTG	0.488000														52			17		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367521	107367521	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107367521G>A	uc011lvq.2	-	0	388	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GGATATCTCAGAGGGTTGCAG	0.512000														139			9		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066116	23066116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:23066116G>A	uc002wsv.3	-	0	862	c.714C>T	c.(712-714)ttC>ttT	p.F238F		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	238					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCTTGCACAGGAAATAATGAC	0.592000														131			41		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168310314	168310314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:168310314C>T	uc010jjg.3	-	4	861	c.441G>A	c.(439-441)ggG>ggA	p.G147G	SLIT3_uc003mab.3_Silent_p.G147G|SLIT3_uc010jji.2_Silent_p.G147G	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	147					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTCGGGATCCCCTGGATCT	0.468000														46			15		0	0	1	0	0
PCMTD2	55251	broad.mit.edu	37	20	62904588	62904588	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62904588C>T	uc002yil.4	+	5	921	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	PCMTD2_uc002yim.4_Missense_Mutation_p.R214C	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 (PCMTD2), transcript variant 1, mRNA.	241						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGTGGCAGTTCGCAGCCTCCA	0.507000														69			18		0	0	1	0	0
WDR44	54521	broad.mit.edu	37	X	117566802	117566802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:117566802C>T	uc004eqn.3	+	12	2227	c.1796C>T	c.(1795-1797)cCa>cTa	p.P599L	WDR44_uc004eqo.3_Missense_Mutation_p.P599L|WDR44_uc011mtr.2_Missense_Mutation_p.P574L|WDR44_uc010nqi.3_Missense_Mutation_p.P309L	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	599						Golgi apparatus|cytosol|endosome membrane|perinuclear region of cytoplasm		p.R598P(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						CGGCAACGGCCATTTTGCAAA	0.348000														58			61		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12343364	12343364	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12343364C>T	uc001atv.3	+	20	5346	c.5205C>T	c.(5203-5205)gtC>gtT	p.V1735V	VPS13D_uc001atw.3_Silent_p.V1735V|VPS13D_uc001atx.3_Silent_p.V923V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1735					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTCCTAATGTCTTCCAGTTGT	0.493000														70			20		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102441	22102441	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22102441G>A	uc010tmc.2	-	0	558	c.558C>T	c.(556-558)atC>atT	p.I186I		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D185D(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		ATACTGCGCGGATGTCACAGA	0.547000														120			14		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719313	42719313	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:42719313C>T	uc021xxv.1	+	9	1862	c.1725C>T	c.(1723-1725)acC>acT	p.T575T	GHR_uc003jmt.3_Silent_p.T568T|GHR_uc003jmu.3_Silent_p.T568T|GHR_uc003jmv.2_Silent_p.T568T|GHR_uc021xxw.1_Silent_p.T568T|GHR_uc021xxx.1_Silent_p.T568T|GHR_uc021xxy.1_Silent_p.T568T|GHR_uc021xxz.1_Silent_p.T568T|GHR_uc021xya.1_Silent_p.T568T|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Silent_p.T381T|GHR_uc021xyd.1_Silent_p.T546T	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	568					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTTACATCACCACAGAAAGCC	0.488000														32			9		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76395507	76395507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:76395507G>A	uc021rkq.1	+	13	2737	c.2402G>A	c.(2401-2403)aGa>aAa	p.R801K	LMO7_uc010thv.2_Missense_Mutation_p.R519K|LMO7_uc001vjt.1_Missense_Mutation_p.R467K|LMO7_uc001vjv.3_Missense_Mutation_p.R568K|LMO7_uc010thw.2_Missense_Mutation_p.R418K|LMO7_uc001vjw.1_Missense_Mutation_p.R474K	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	853						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTTGCAAAAAGAGAGGACCGT	0.443000														90			36		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142486068	142486068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:142486068C>T	uc003ywi.2	-	12	1706	c.1625G>A	c.(1624-1626)gGc>gAc	p.G542D	FLJ43860_uc011ljs.1_Intron|FLJ43860_uc010meu.1_Intron	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	542							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGGTCCCCAGCCCTGGTGCGT	0.602000														18			5		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381515	81381515	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:81381515C>T	uc003uhl.3	-	4	711	c.546G>A	c.(544-546)ggG>ggA	p.G182G	HGF_uc003uhm.3_Silent_p.G177G|HGF_uc003uhn.1_Silent_p.G182G|HGF_uc003uho.1_Silent_p.G177G|HGF_uc003uhp.3_Silent_p.G182G	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	182	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCCCTTCTTCCCCTCGAGGAT	0.433000														103			8		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21348460	21348460	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:21348460C>T	uc002zto.3	+	13	1620	c.1517C>T	c.(1516-1518)cCg>cTg	p.P506L	LZTR1_uc002ztn.3_Missense_Mutation_p.P465L|LZTR1_uc011ahy.2_Missense_Mutation_p.P487L|LZTR1_uc010gsr.1_Missense_Mutation_p.P377L	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	506	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGGGCCCGGCCGCCCCTGCTG	0.682000														14			6		0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22855192	22855192	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22855192C>T	uc001yuq.2	+	12	1783	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	TUBGCP5_uc001yur.4_Silent_p.F551F|TUBGCP5_uc010axz.1_Silent_p.F138F	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	551					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TGGTGTCCTTCCTCAAACCTG	0.542000														61			18		0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205132913	205132913	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205132913G>A	uc001hbw.3	-	3	1559	c.1495C>T	c.(1495-1497)Ctg>Ttg	p.L499L	DSTYK_uc001hbx.3_Silent_p.L499L|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	499						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AGGCTCTGCAGACATCGTTCC	0.453000														42			10		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9560897	9560897	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9560897C>T	uc002wnl.2	-	4	1430	c.885G>A	c.(883-885)ccG>ccA	p.P295P	PAK7_uc002wnk.2_Silent_p.P295P|PAK7_uc002wnj.2_Silent_p.P295P|PAK7_uc010gby.1_Silent_p.P295P	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	295	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATGGCATCATCGGTTCCTGGA	0.542000														139			52		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6228308	6228309	+	Missense_Mutation	DNP	CG	TA	TA	rs146996909	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6228308_6228309CG>TA	uc001amb.2	-	1	219_220	c.108_109CG>TA	c.(106-111)ttcgat>ttTAat	p.D37N		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	37					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.F36F(2)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AAAAAGTCATCGAAGGCTTCAA	0.495000														198			77		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262033	45262033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:45262033G>A	uc003jok.3	-	7	2688	c.2663C>T	c.(2662-2664)tCa>tTa	p.S888L		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	888						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCATAAATTTGAAGCAAATCG	0.438000														173			37		0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64138976	64138976	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:64138976C>T	uc004dvu.3	-	3	663	c.507G>A	c.(505-507)agG>agA	p.R169R	ZC4H2_uc004dvv.3_Silent_p.R146R|ZC4H2_uc022byd.1_Silent_p.R146R|ZC4H2_uc022byc.1_Silent_p.R146R|ZC4H2_uc011mow.2_Intron|ZC4H2_uc011mov.2_Silent_p.R146R|ZC4H2_uc004dvw.2_3'UTR	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	169							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TATCCTGCTTCCTAGCCACTT	0.597000														16			32		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103124179	103124179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:103124179C>T	uc022ajr.1	-	61	10262	c.10102G>A	c.(10102-10104)Ggg>Agg	p.G3368R	RELN_uc022ajq.1_Missense_Mutation_p.G3368R|RELN_uc010liz.3_Missense_Mutation_p.G3368R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3368					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)		CAGGTGATCCCGTTGTTGACG	0.557000														130			32		0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128608858	128608858	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:128608858C>T	uc003ifk.2	+	7	1388	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	INTU_uc011cgq.2_Intron	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	429										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TGAGAATGTTCCTCGTTTGGA	0.438000														96			31		0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7262416	7262416	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:7262416G>A	uc009xio.2	-	10	1378	c.1287C>T	c.(1285-1287)tcC>tcT	p.S429S	SFMBT2_uc001ijn.2_Silent_p.S429S|SFMBT2_uc010qay.2_Intron	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	429					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CACTCACAACGGAGGCCACAC	0.517000														216			101		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62941524	62941524	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62941524G>A	uc001daq.3	-	44	5816	c.5782C>T	c.(5782-5784)Cgt>Tgt	p.R1928C	DOCK7_uc001dan.3_Missense_Mutation_p.R1791C|DOCK7_uc001dao.3_Missense_Mutation_p.R1789C|DOCK7_uc001dap.3_Missense_Mutation_p.R1908C|DOCK7_uc001dam.3_Missense_Mutation_p.R1110C|DOCK7_uc010oov.1_Missense_Mutation_p.R669C|DOCK7_uc001dar.1_Missense_Mutation_p.R102C	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1939	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATGAATCGACGAAGATTGTAA	0.403000														121			48		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167141089	167141089	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:167141089C>T	uc010fpl.3	-	11	2189	c.1848G>A	c.(1846-1848)ggG>ggA	p.G616G	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Silent_p.G487G|SCN9A_uc002uds.1_Silent_p.G487G|SCN9A_uc002udt.1_Silent_p.G487G	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	616						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGTGCATTTTCCCGTTCACCG	0.587000														51			20		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169146730	169146730	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169146730G>A	uc003irp.3	-	33	4923	c.4631C>T	c.(4630-4632)tCc>tTc	p.S1544F	DDX60_uc003iro.3_Missense_Mutation_p.S15F	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1544							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)		AGCCAGTTTGGAAACAATTCG	0.333000														57			20		0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101590503	101590503	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:101590503C>T	uc001kqf.2	+	20	2917	c.2778C>T	c.(2776-2778)tcC>tcT	p.S926S		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	926						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ATCTGAAGTCCCTGAGAAACT	0.448000														63			34		0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54147437	54147437	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:54147437C>T	uc003xrh.1	-	1	867	c.492G>A	c.(490-492)gtG>gtA	p.V164V	OPRK1_uc022aup.1_Silent_p.V44V|OPRK1_uc003xri.1_Silent_p.V164V|OPRK1_uc010lyc.1_Silent_p.V75V	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	164					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CCAAAGCCTTCACGGGGTGGC	0.488000														68			14		0	0	1	0	0
PDIA2	64714	broad.mit.edu	37	16	335186	335186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:335186G>A	uc002cgn.1	+	9	1889	c.781G>A	c.(781-783)Gag>Aag	p.E261K	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgo.1_Missense_Mutation_p.E261K|PDIA2_uc010bqt.1_Missense_Mutation_p.E106K	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA.	261					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCTGGTCACGGAGTTCAACAG	0.662000														43			6		0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389971	150389971	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150389971G>A	uc003who.3	+	2	685	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	199						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGAACTAATGGACTGTATTG	0.468000														159			34		0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132237666	132237666	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:132237666G>A	uc002tsu.4	+	3	593	c.400G>A	c.(400-402)Ggc>Agc	p.G134S		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	134					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		AGGACTGCAGGGCTTCCTCAT	0.587000														92			18		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833838	168833838	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:168833838C>T	uc011bpj.1	-	7	2225	c.1822G>A	c.(1822-1824)Gat>Aat	p.D608N	MECOM_uc010hwk.1_Missense_Mutation_p.D443N|MECOM_uc003ffj.3_Missense_Mutation_p.D485N|MECOM_uc003ffi.3_Missense_Mutation_p.D420N|MECOM_uc011bpi.1_Missense_Mutation_p.D421N|MECOM_uc003ffn.3_Missense_Mutation_p.D420N|MECOM_uc003ffk.2_Missense_Mutation_p.D420N|MECOM_uc003ffl.2_Missense_Mutation_p.D580N|MECOM_uc011bpk.1_Missense_Mutation_p.D420N|MECOM_uc010hwn.2_Missense_Mutation_p.D608N	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTCTCTTTATCACTTTCAATG	0.383000														76			17		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18657708	18657708	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:18657708G>A	uc003zne.4	+	7	1058	c.906G>A	c.(904-906)agG>agA	p.R302R	ADAMTSL1_uc003znb.3_Silent_p.R302R|ADAMTSL1_uc003znc.4_Silent_p.R302R	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	302						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ACCGATGGAGGGAGACGGATT	0.463000														38			8		0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44624497	44624497	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:44624497C>T	uc021xnx.1	-	5	794	c.777G>A	c.(775-777)caG>caA	p.Q259Q		NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA.	259						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						CAAGAAGCTGCTGTCCTTCCA	0.448000														31			6		0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34976624	34976624	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:34976624G>A	uc003zvq.3	+	4	914	c.736G>A	c.(736-738)Gag>Aag	p.E246K	KIAA1045_uc003zvr.3_Missense_Mutation_p.E246K	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	246							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GGAGCAAGAAGAGCAGGCGGC	0.612000														65			18		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15928546	15928546	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:15928546C>T	uc003jfn.1	+	2	1156	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	225					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GTTACAATATCTCCAACGAGG	0.582000														59			18		0	0	1	0	0
CREG2	200407	broad.mit.edu	37	2	102000095	102000095	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:102000095G>A	uc002tba.2	-	1	557	c.511C>T	c.(511-513)Cct>Tct	p.P171S		NM_153836	NP_722578	Q8IUH2	CREG2_HUMAN	Homo sapiens cellular repressor of E1A-stimulated genes 2 (CREG2), mRNA.	171						extracellular region	FMN binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TAGAAGAAAGGAATCCCAGTG	0.517000														63			23		0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151804206	151804206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151804206G>A	uc001ezh.3	-	0	143	c.35C>T	c.(34-36)tCa>tTa	p.S12L	RORC_uc010pdo.2_5'UTR|RORC_uc010pdp.2_Missense_Mutation_p.S12L	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	12	Modulating (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTTACCCCGTGAGGCTCGGTG	0.662000														171			19		0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159860290	159860290	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159860290C>T	uc001fui.3	-	2	270	c.252G>A	c.(250-252)cgG>cgA	p.R84R	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_5'UTR|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Silent_p.R84R	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	84						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GGACCATGTCCCGGGTGATGA	0.522000														129			18		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34003130	34003130	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34003130G>A	uc001bxm.1	-	60	9888	c.9711C>T	c.(9709-9711)tcC>tcT	p.S3237S	CSMD2_uc001bxn.1_Silent_p.S3093S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3214	Sushi 26.					integral to membrane|plasma membrane	protein binding	p.G3236V(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCAGGAGAAGGAGACAGATG	0.607000														74			28		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45396248	45396248	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45396248G>A	uc001zun.3	-	19	2767	c.2564C>T	c.(2563-2565)tCc>tTc	p.S855F	DUOX2_uc010bea.3_Missense_Mutation_p.S855F	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	855	EF-hand 2.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ATCCTCTGGGGAGCCTGGGAA	0.512000														33			12		0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443492	5443492	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5443492G>A	uc010qzd.2	+	0	152	c.62G>A	c.(61-63)gGa>gAa	p.G21E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACATCCCTGGATTTGAGGCC	0.502000														156			47		0	0	1	0	0
CERS5	91012	broad.mit.edu	37	12	50561058	50561058	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:50561058G>A	uc001rwd.4	-	0	40	c.23C>T	c.(22-24)cCc>cTc	p.P8L	CERS5_uc001rwe.4_5'UTR|CERS5_uc001rwf.4_Non-coding_Transcript|CERS5_uc010smq.1_5'UTR	NM_147190	NP_671723	Q8N5B7	CERS5_HUMAN	Homo sapiens ceramide synthase 5 (CERS5), mRNA.	8					ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CAAGCTTAGGGGTCCCTGCGC	0.697000														28			14		0	0	1	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021257	142021257	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142021257C>T	uc011krr.1	+	1	422	c.237C>T	c.(235-237)ttC>ttT	p.F79F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Silent_p.F79F					SubName: Full=V_segment translation product; Flags: Fragment;																		AAGGAAACTTCCCTGGTCGAT	0.527000														37			21		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423451	56423451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56423451C>T	uc010ygg.2	-	4	1757	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	578							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAGTAGGCTTCTTTGTCAAGC	0.418000														108			43		0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79363156	79363156	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:79363156G>A	uc002soa.1	-	3		c.1158C>T			REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript					Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds.																		AATGTCCCAGGATTTGTAGGA	0.517000														24			6		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189060833	189060833	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:189060833C>T	uc003izm.1	+	0	236	c.121C>T	c.(121-123)Ctc>Ttc	p.L41F		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	41					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGTGTGTCTCCTCAGGAGCTG	0.547000														206			87		0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54967229	54967229	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54967229G>A	uc001sgd.2	+	8	1320	c.927G>A	c.(925-927)atG>atA	p.M309I	PDE1B_uc010soz.2_Missense_Mutation_p.M172I|PDE1B_uc010spa.1_Missense_Mutation_p.M268I|PDE1B_uc001sge.3_Missense_Mutation_p.M289I|PDE1B_uc001sgf.3_Missense_Mutation_p.M172I|PDE1B_uc009znq.3_Missense_Mutation_p.M105I	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	309	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						ATGATGAGATGAACATTTTCA	0.453000														73			17		0	0	1	0	0
ADRB2	154	broad.mit.edu	37	5	148207537	148207537	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:148207537C>T	uc003lpr.2	+	0	1382	c.1143C>T	c.(1141-1143)ctC>ctT	p.L381L	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	Homo sapiens adrenergic, beta-2-, receptor, surface (ADRB2), mRNA.	381					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	GTGAAGACCTCCCAGGCACGG	0.483000														72			7		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106526580	106526580	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:106526580G>A	uc003vdv.4	+	10	2958	c.2873_splice	c.e10-1	p.G958_splice	PIK3CG_uc003vdu.3_Splice_Site_p.G958_splice|PIK3CG_uc003vdw.3_Splice_Site_p.G958_splice	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	958	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TTCTCTTAAGGAAACCTATTT	0.373000														45			13		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75266120	75266120	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75266120C>T	uc001xqj.4	+	4	4244	c.4120C>T	c.(4120-4122)Cga>Tga	p.R1374*	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTTGAGGATTCGAGAGTATCC	0.463000														202			46		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858356	9858356	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:9858356C>T	uc010uym.2	-	13	3355	c.3045G>A	c.(3043-3045)aaG>aaA	p.K1015K	GRIN2A_uc002czo.4_Silent_p.K1015K|GRIN2A_uc010uyn.2_Silent_p.K858K|GRIN2A_uc002czr.4_Silent_p.K1015K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1015					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.W1014L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCACGGATTTCTTCCACAGCT	0.532000														74			36		0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247464567	247464567	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247464567G>A	uc009xgv.3	-	7	1163	c.1126C>T	c.(1126-1128)Ccg>Tcg	p.P376S	ZNF496_uc001ico.3_Missense_Mutation_p.P340S	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	340					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			AGAGATCGCGGGTTGCCGCCA	0.602000														73			15		0	0	1	0	0
CD19	930	broad.mit.edu	37	16	28944296	28944296	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:28944296C>T	uc010byo.2	+	2	482	c.420C>T	c.(418-420)tcC>tcT	p.S140S	NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Silent_p.S140S	NM_001178098	NP_001171569	P15391	CD19_HUMAN	Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA.	140					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	p.S140Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						AGAACAGGTCCTCAGAGGGCC	0.617000														14			3		0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41774051	41774051	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:41774051G>A	uc003ori.3	-	3	893	c.671C>T	c.(670-672)tCg>tTg	p.S224L		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	224					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ggcggggcgcgaggcagccgg	0.751000														16			16		0	0	1	0	0
OXA1L	5018	broad.mit.edu	37	14	23235850	23235850	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23235850C>T	uc001wgn.2	+	0	120	c.120C>T	c.(118-120)ttC>ttT	p.F40F	OXA1L_uc010tnc.2_Silent_p.F40F|OXA1L_uc001wgp.2_5'Flank	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA.	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	p.F40F(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AAAAGTGCTTCCTCTCGAGGG	0.547000														148			69		0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102548620	102548620	+	Silent	SNP	G	A	A	rs113093780		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:102548620G>A	uc001yku.4	-	9	2107	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	HSP90AA1_uc001ykv.4_Silent_p.D761D	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	639					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TAATGGAATGGTCAGGGTTTA	0.448000														232			97		0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122420051	122420051	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122420051C>T	uc003efq.4	+	5	2709	c.2650C>T	c.(2650-2652)Cgc>Tgc	p.R884C	PARP14_uc021xdc.1_Missense_Mutation_p.R748C|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.R601C|PARP14_uc003efs.1_Missense_Mutation_p.R601C	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	884	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGTGGGGCCCCGCTGGAGCGG	0.557000														23			9		0	0	1	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41454959	41454959	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41454959G>A	uc002opq.3	+	9		c.1303_splice	c.e9-1		CYP2A7_uc002opo.3_Intron					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TGCCCACAGGGAAGCGGATTT	0.572000														37			14		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197032181	197032181	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197032181G>A	uc001gtt.1	-	1	115	c.71C>T	c.(70-72)cCc>cTc	p.P24L		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	24	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AAAACCACAGGGTTTCTCTGA	0.294000														163			62		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99438647	99438647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:99438647C>T	uc002szf.1	-	6	2383	c.2089G>A	c.(2089-2091)Gat>Aat	p.D697N		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	697										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						GAGGCGCCATCCCTGTATTTG	0.637000														21			4		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110477352	110477352	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:110477352G>A	uc001pkz.1	-	9	1182	c.897C>T	c.(895-897)ctC>ctT	p.L299L	ARHGAP20_uc001pky.1_Silent_p.L276L|ARHGAP20_uc009yyb.1_Silent_p.L263L|ARHGAP20_uc001pla.1_Silent_p.L263L	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	299					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCTCTCGGGGGAGCTGTTCCA	0.537000														194			96		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110882049	110882049	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:110882049C>T	uc003hzy.4	+	6	1545	c.1093C>T	c.(1093-1095)Cat>Tat	p.H365Y	EGF_uc011cfu.2_Missense_Mutation_p.H323Y|EGF_uc011cfv.2_Missense_Mutation_p.H365Y	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	365	EGF-like 2; calcium-binding (Potential).				DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTTTTGGAATCATGGCTGTAC	0.388000														69			16		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161729	57161729	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57161729G>A	uc001cyk.4	+	5	756	c.685G>A	c.(685-687)Ggt>Agt	p.G229S		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	229	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GATCCGAGGGGGTGTCTTTTA	0.443000														345			38		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74153399	74153399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:74153399G>A	uc021ulp.1	-	2	1930	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CGCGCGCGGCGATGCACGCGT	0.701000														19			14		0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160459991	160459991	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160459991G>A	uc001fwe.2	-	4	863	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S	SLAMF6_uc010pji.2_Missense_Mutation_p.P154S|SLAMF6_uc001fwd.2_Missense_Mutation_p.P265S|SLAMF6_uc010pjh.2_Missense_Mutation_p.P216S|SLAMF6_uc010pjj.2_Missense_Mutation_p.P154S	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	265						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TGCTCACCGGGGCCCTGTGTT	0.478000														120			35		0	0	1	0	0
OTOR	56914	broad.mit.edu	37	20	16730641	16730641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:16730641G>A	uc002wpj.3	+	2	393	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K		NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	Homo sapiens otoraplin (OTOR), mRNA.	117					sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						AGCTACCAAGGAAGTTCCCAC	0.488000														31			12		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77343191	77343191	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77343191G>A	uc004ajl.1	-	37	6137	c.5899C>T	c.(5899-5901)Cat>Tat	p.H1967Y	TRPM6_uc004ajk.1_Missense_Mutation_p.H1962Y|TRPM6_uc022bib.1_Missense_Mutation_p.H1962Y|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.H918Y|TRPM6_uc010mpd.1_Missense_Mutation_p.H800Y|TRPM6_uc010mpe.1_Missense_Mutation_p.H514Y|TRPM6_uc004ajj.1_Missense_Mutation_p.H923Y	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1967	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAGTTACAATGATGTTTTGCA	0.398000														62			20		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396866	154396866	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:154396866G>A	uc010jih.1	+	0	3607	c.3447G>A	c.(3445-3447)gaG>gaA	p.E1149E		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1149	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATCCTACCGAGGTGACCCCAG	0.527000														59			35		0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090609	184090609	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:184090609C>T	uc003fol.1	-	5	969	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	THPO_uc003fom.2_Missense_Mutation_p.E248K|THPO_uc021xii.1_Missense_Mutation_p.R246Q|THPO_uc003fon.3_Missense_Mutation_p.R213Q|THPO_uc011bro.2_Intron|THPO_uc003fop.3_Missense_Mutation_p.R209Q|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Missense_Mutation_p.R173Q	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	252					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	p.E252K(2)		NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCAAGAGTTCGTGTATCCTG	0.557000														106			26		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56917978	56917978	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:56917978C>T	uc002ekd.4	+	13	1716	c.1687C>T	c.(1687-1689)Caa>Taa	p.Q563*	SLC12A3_uc010ccm.3_Nonsense_Mutation_p.Q563*|SLC12A3_uc010ccn.3_Nonsense_Mutation_p.Q562*	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	563					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ACCTTCATTCCAATACTACAA	0.612000														49			12		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168180980	168180980	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:168180980C>T	uc010jjg.3	-	16	2138	c.1718G>A	c.(1717-1719)cGa>cAa	p.R573Q	SLIT3_uc003mab.3_Missense_Mutation_p.R573Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	573					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTCCCTCTCGCACCTCCTT	0.552000														15			6		0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10742306	10742306	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10742306C>T	uc002mpf.3	+	7	646	c.507C>T	c.(505-507)gcC>gcT	p.A169A	SLC44A2_uc002mpe.4_Silent_p.A167A	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	169					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ATGCAGTGGCCCGGAGATGCT	0.607000														24			12		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11071021	11071021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:11071021C>T	uc010hdq.3	+	11	1717	c.1306C>T	c.(1306-1308)Ctc>Ttc	p.L436F		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	436					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCTGATCGGTCTCTCTAACAT	0.592000														43			9		0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178802677	178802677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:178802677C>T	uc001glz.3	+	7	937	c.599C>T	c.(598-600)cCc>cTc	p.P200L	RALGPS2_uc001gly.1_Missense_Mutation_p.P200L|RALGPS2_uc010pnb.2_Missense_Mutation_p.P200L	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	200	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CCTTGCATTCCCTATTTAGGT	0.289000														78			27		0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153431388	153431388	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153431388C>T	uc001fbv.1	-	1	173	c.102G>A	c.(100-102)acG>acA	p.T34T		NM_002963	NP_002954	P31151	S10A7_HUMAN	Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.	34	EF-hand 1.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTCATCATCGTCAGCAGGC	0.468000														139			48		0	0	1	0	0
SDC4	6385	broad.mit.edu	37	20	43959189	43959189	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43959189G>A	uc002xnu.3	-	3	302	c.262C>T	c.(262-264)Cat>Tat	p.H88Y	SDC4_uc010zws.2_Missense_Mutation_p.H16Y	NM_002999	NP_002990	P31431	SDC4_HUMAN	Homo sapiens syndecan 4 (SDC4), mRNA.	88						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				TCAGGGATATGGTTATCTAGA	0.542000			T	ROS1	NSCLC									30			15		0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55880415	55880415	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:55880415G>A	uc021tir.1	-	13	1909	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	CES5A_uc002eip.2_Missense_Mutation_p.S559F|CES5A_uc002eio.2_Missense_Mutation_p.S509F|CES5A_uc002eiq.2_Missense_Mutation_p.S320F|CES5A_uc002eir.2_Missense_Mutation_p.S453F	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	559						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GAAAGTTAAGGAAGAAAGAGG	0.483000														153			51		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16026284	16026284	+	Missense_Mutation	SNP	C	T	T	rs13306549		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:16026284C>T	uc010lsu.3	-	3	431	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	MSR1_uc003wwz.3_Missense_Mutation_p.E105K|MSR1_uc003wxa.3_Missense_Mutation_p.E105K|MSR1_uc003wxb.3_Missense_Mutation_p.E105K|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	105					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTTCCTCTTCGCTGTCATTT	0.403000														94			99		0	0	1	0	0
EVL	51466	broad.mit.edu	37	14	100551165	100551165	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:100551165C>T	uc001ygu.3	+	1	240	c.153C>T	c.(151-153)gtC>gtT	p.V51V	EVL_uc001ygt.3_Silent_p.V49V|EVL_uc001ygv.2_Silent_p.V55V	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Homo sapiens Enah/Vasp-like (EVL), mRNA.	49	WH1.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	SH3 domain binding|actin binding|profilin binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				CCTTCAGAGTCGTTGGAGTCA	0.527000														87			10		0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183655757	183655757	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183655757G>A	uc003fmg.3	-	25	3951	c.3786C>T	c.(3784-3786)ggC>ggT	p.G1262G	ABCC5_uc011bqt.2_Silent_p.G790G|ABCC5_uc010hxl.3_Silent_p.G1219G	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1262	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTCGGCAAGGCCAATATCAC	0.547000														75			34		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16967672	16967672	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:16967672G>A	uc001ioo.3	-	41	6425	c.6373C>T	c.(6373-6375)Caa>Taa	p.Q2125*		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2125	CUB 15.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGCCACTTTGGACCAGGACG	0.502000														63			26		0	0	1	0	0
LOC285359	285359	broad.mit.edu	37	3	101432057	101432057	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:101432057C>T	uc003dvj.3	+	0		c.780C>T								Homo sapiens phosducin-like 3 pseudogene (LOC285359), non-coding RNA.																		CTATCACATGCCGAACTTTCT	0.398000														26			4		0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128987836	128987836	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:128987836C>T	uc003els.3	+	17	1936	c.1836C>T	c.(1834-1836)atC>atT	p.I612I	COPG1_uc010htb.3_Silent_p.I518I	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	Homo sapiens coatomer protein complex, subunit gamma (COPG), mRNA.	612	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										GGCAGGAGATCTTCCAGGGTG	0.512000														85			24		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8176141	8176141	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:8176141G>A	uc003wsh.4	-	4	3744	c.3744C>T	c.(3742-3744)ttC>ttT	p.F1248F		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1248	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										GGAACTCATCGAACTTGCGGT	0.642000														41			19		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760700	92760700	+	Missense_Mutation	SNP	C	T	T	rs147406199		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92760700C>T	uc003umh.1	-	4	5801	c.4585G>A	c.(4585-4587)Gct>Act	p.A1529T	SAMD9L_uc003umj.1_Missense_Mutation_p.A1529T|SAMD9L_uc003umi.1_Missense_Mutation_p.A1529T|SAMD9L_uc010lfb.1_Missense_Mutation_p.A1529T|SAMD9L_uc003umk.1_Missense_Mutation_p.A1529T|SAMD9L_uc010lfc.1_Missense_Mutation_p.A1529T|SAMD9L_uc010lfd.1_Missense_Mutation_p.A1529T|SAMD9L_uc022ahh.1_Missense_Mutation_p.A1529T	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1529										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGCCTTCAGCCTGACCAGTT	0.398000														96			22		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058656	9058656	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9058656G>A	uc002mkp.3	-	2	28994	c.28790C>T	c.(28789-28791)tCc>tTc	p.S9597F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9599	Ser-rich.|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						TGTCTCTGTGGATGAGGTGAT	0.527000														38			15		0	0	1	0	0
PPP1R2P3	153743	broad.mit.edu	37	5	156277636	156277636	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156277636G>A	uc003lwf.1	+	0	88	c.63G>A	c.(61-63)acG>acA	p.T21T						Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 (PPP1R2P3), non-coding RNA.																		AGACCTCTACGACTTCCTCTA	0.602000														13			4		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26802553	26802553	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:26802553G>A	uc001iss.3	+	7	1098	c.777G>A	c.(775-777)gaG>gaA	p.E259E	APBB1IP_uc009xks.1_Silent_p.E259E	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	259	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TATTTTTGGAGAAAGAGGAGA	0.313000														113			40		0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108826	75108826	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:75108826C>T	uc002ayt.1	+	2	391	c.389C>T	c.(388-390)tCg>tTg	p.S130L	LMAN1L_uc010bkd.2_Missense_Mutation_p.S58L|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Missense_Mutation_p.S130L	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	130	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	p.S130L(2)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCTGGCTTCGTGGGACGGC	0.667000														67			94		0	0	1	0	0
CDK20	23552	broad.mit.edu	37	9	90584785	90584785	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90584785G>A	uc004apr.3	-	5	947	c.613C>T	c.(613-615)Ccg>Tcg	p.P205S	CDK20_uc004aps.3_Missense_Mutation_p.P184S|CDK20_uc022bjj.1_Missense_Mutation_p.P184S|CDK20_uc004apt.3_Missense_Mutation_p.P197S|CDK20_uc004apu.3_Intron	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	Homo sapiens cyclin-dependent kinase 20 (CDK20), transcript variant 3, mRNA.	205	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						TTCTTGCCCGGGAAAAGGGGG	0.577000														73			7		0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385829	33385829	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:33385829G>A	uc003zst.3	-	6	733	c.561C>T	c.(559-561)ttC>ttT	p.F187F	AQP7_uc003zsu.1_Silent_p.F130F|AQP7_uc010mjs.2_Silent_p.F95F|AQP7_uc010mjt.2_Silent_p.F95F|AQP7_uc011lny.1_Silent_p.F186F|AQP7_uc003zss.3_Silent_p.F95F|AQP7_uc011lnz.1_Silent_p.F95F|AQP7_uc011loa.1_Missense_Mutation_p.R56C|AQP7_uc011lnx.1_Silent_p.F187F	NM_001170	NP_001161	O14520	AQP7_HUMAN	Homo sapiens aquaporin 7 (AQP7), mRNA.	187					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCGTGATGGCGAAGAGACACA	0.627000														68			9		0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50785001	50785001	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:50785001C>T	uc001zym.4	+	15	2838	c.2338C>T	c.(2338-2340)Cgt>Tgt	p.R780C	USP8_uc001zyl.4_Missense_Mutation_p.R780C|USP8_uc001zyn.4_Missense_Mutation_p.R780C|USP8_uc010ufh.2_Missense_Mutation_p.R674C|AX746640_uc001zyo.1_Non-coding_Transcript|USP8_uc001zyp.4_5'Flank	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	780					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TACTGGACTTCGTAACTTAGG	0.403000														107			38		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423159	56423159	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56423159G>A	uc010ygg.2	-	4	2049	c.2024C>T	c.(2023-2025)tCa>tTa	p.S675L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	675							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TAGGCAAAATGAAGAAGCTTG	0.403000														171			16		0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36050801	36050801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36050801G>A	uc002oal.1	-	6	991	c.962C>T	c.(961-963)gCc>gTc	p.A321V	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	321					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.V320L(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	AATGCACATGGCCACAATAAA	0.547000														58			31		0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42122179	42122179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:42122179C>T	uc003gwn.3	-	4	1859	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	BEND4_uc003gwm.3_Missense_Mutation_p.E427K|BEND4_uc011byy.1_Missense_Mutation_p.E427K	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	427	BEN.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TACTTAAGCTCATCGGTTGTG	0.468000														49			6		0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69095062	69095062	+	Missense_Mutation	SNP	G	A	A	rs150665678		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69095062G>A	uc003hdw.4	-	7	995	c.859C>T	c.(859-861)Cgt>Tgt	p.R287C		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	287	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CAAATCTTACGAATGTACTCT	0.358000														84			31		0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56587632	56587632	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:56587632C>T	uc010xeg.2	+	2	2310	c.2113C>T	c.(2113-2115)Ctt>Ttt	p.L705F	ZNF532_uc002lhp.3_Missense_Mutation_p.L703F|ZNF532_uc002lho.3_Missense_Mutation_p.L705F|ZNF532_uc002lhr.3_Missense_Mutation_p.L703F|ZNF532_uc002lhs.3_Missense_Mutation_p.L703F	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AACTTCCACTCTTCAGAGCCC	0.483000														92			6		0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148921668	148921668	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:148921668C>T	uc003wfm.3	+	7	2050	c.1945C>T	c.(1945-1947)Ctg>Ttg	p.L649L	ZNF282_uc011kun.1_3'UTR|ZNF282_uc003wfo.3_3'UTR	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	649					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CAAGGACCACCTGCGCGTGCA	0.731000														31			9		0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110670406	110670406	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:110670406G>A	uc011cft.2	-	10	1348	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	CFI_uc003hzq.3_Silent_p.G169G|CFI_uc003hzr.4_Silent_p.G372G	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	372	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GAATCCAACAGCCACCAATAT	0.438000														264			104		0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85438259	85438259	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:85438259C>T	uc002blg.3	+	5	568	c.366C>T	c.(364-366)ttC>ttT	p.F122F	SLC28A1_uc010upd.1_Silent_p.F44F|SLC28A1_uc010bnb.3_Silent_p.F122F|SLC28A1_uc010upe.2_Silent_p.F122F|SLC28A1_uc010upf.1_Silent_p.F122F|SLC28A1_uc010upg.1_Silent_p.F122F|SLC28A1_uc002blf.3_Silent_p.F122F	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	122					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCCTCACCTTCCTGGGCCACC	0.622000														167			10		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8819105	8819105	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:8819105C>T	uc002knr.2	+	12	3146	c.3004C>T	c.(3004-3006)Ccg>Tcg	p.P1002S	SOGA2_uc002knq.2_Missense_Mutation_p.P961S|SOGA2_uc002kns.2_Missense_Mutation_p.P342S	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1312																	TGACTCCATCCCGTTTGAAGA	0.597000														66			25		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167077760	167077760	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:167077760C>T	uc011bpc.2	-	7	667	c.330G>A	c.(328-330)gtG>gtA	p.V110V	ZBBX_uc003feq.3_Silent_p.V81V|ZBBX_uc003fep.3_Silent_p.V110V	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	110						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTGTTGGTTTCACTGGCTCTG	0.303000														37			17		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31322871	31322871	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:31322871G>A	uc010dmg.1	+	11	3114	c.3059G>A	c.(3058-3060)gGg>gAg	p.G1020E	ASXL3_uc002kxq.2_Missense_Mutation_p.G727E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1020					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCCAAAATTGGGCCACCTTTT	0.453000														36			7		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30954233	30954233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:30954233C>T	uc021vfn.1	-	19	1992	c.1960G>A	c.(1960-1962)Gga>Aga	p.G654R	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.G650R	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	654	EF-hand 2.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGGTAGAGTCCTTTTCCATCC	0.547000														13			4		0	0	1	0	0
DCD	117159	broad.mit.edu	37	12	55039011	55039011	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55039011C>T	uc001sgj.3	-	3	297	c.235G>A	c.(235-237)Gga>Aga	p.G79R	DCD_uc009znt.3_Missense_Mutation_p.G79R|DCD_uc009znu.3_Non-coding_Transcript	NM_053283	NP_444513	P81605	DCD_HUMAN	Homo sapiens dermcidin (DCD), mRNA.	79					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				TTTCCGAGTCCCCCCACAGCT	0.478000														87			33		0	0	1	0	0
EFCAB11	90141	broad.mit.edu	37	14	90420996	90420996	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:90420996G>A	uc001xxt.3	-	0	94	c.9C>T	c.(7-9)ttC>ttT	p.F3F	EFCAB11_uc001xxs.3_5'Flank|EFCAB11_uc001xxv.1_Non-coding_Transcript|TDP1_uc010atm.3_5'Flank|TDP1_uc001xxy.3_5'Flank|TDP1_uc001xxz.3_5'Flank|TDP1_uc010atn.3_5'Flank|TDP1_uc001xya.3_5'Flank|TDP1_uc001xyb.3_5'Flank|EFCAB11_uc001xxw.2_5'Flank|EFCAB11_uc001xxx.2_Silent_p.F3F	NM_145231	NP_660274	Q9BUY7	EFC11_HUMAN	Homo sapiens EF-hand calcium binding domain 11 (EFCAB11), mRNA.	3							calcium ion binding			large_intestine(1)|lung(1)	2						TGGCCTCGGAGAAGAACATCG	0.652000														21			3		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575497	136575497	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136575497C>T	uc002tuu.1	-	5	1132	c.1121G>A	c.(1120-1122)aGg>aAg	p.R374K		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	374	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAAGGCATCCCTTTCCGCCCT	0.602000														135			47		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120764309	120764309	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:120764309G>A	uc003eec.4	+	4	537	c.397G>A	c.(397-399)Gat>Aat	p.D133N	STXBP5L_uc011bji.2_Missense_Mutation_p.D133N	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	133					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAGTTCAGATGATACACTTCA	0.348000														169			17		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20150060	20150060	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:20150060C>T	uc002wru.3	+	12	1455	c.1341C>T	c.(1339-1341)acC>acT	p.T447T	C20orf26_uc010zse.2_Silent_p.T427T|C20orf26_uc010zsf.1_Silent_p.T447T	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	447										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)		ACACCTGCACCCTCGAGCAGG	0.488000														81			27		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32371624	32371624	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:32371624C>T	uc002wzy.3	+	11	1826	c.1806C>T	c.(1804-1806)ttC>ttT	p.F602F	ZNF341_uc002wzx.3_Silent_p.F595F|ZNF341_uc010geq.3_Silent_p.F512F|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y601C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCAAGAAGTTCTTCCGGCGGG	0.617000														65			12		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320980	56320980	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56320980G>A	uc010ygf.2	-	4	1707	c.996C>T	c.(994-996)ctC>ctT	p.L332L	NLRP11_uc002qlz.3_Silent_p.L233L|NLRP11_uc002qmb.3_Silent_p.L233L|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	332	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACAGACCCACGAGTATTTCAT	0.527000														55			9		0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	33260980	33260980	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:33260980G>A	uc003amx.3	-	4	795	c.633C>T	c.(631-633)ctC>ctT	p.L211L	SYN3_uc003amy.3_Silent_p.L211L|SYN3_uc003amz.3_Silent_p.L210L	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	211	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AGATCTTAATGAGCTGAGAGA	0.453000														147			66		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179650431	179650431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179650431G>A	uc021vsy.1	-	14	2634	c.2409C>T	c.(2407-2409)gtC>gtT	p.V803V	TTN_uc021vsz.1_Silent_p.V757V|TTN_uc021vta.1_Silent_p.V757V|TTN_uc021vtb.1_Silent_p.V757V|TTN_uc002unb.2_Silent_p.V803V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	803							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)			TATCCACATGGACTAATCTTT	0.418000														98			34		0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149360587	149360587	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149360587C>T	uc003lrh.3	+	2	1699	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	477						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGTTCTATTCCCTTCAAAAAA	0.423000														82			5		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20636757	20636757	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20636757C>T	uc002dhm.1	-	10	1583	c.1515G>A	c.(1513-1515)ccG>ccA	p.P505P	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.P505P	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	505					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	p.P505P(4)|p.P156P(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CCCCTCGAATCGGGTCTGGGC	0.602000														16			19		0	0	1	0	0
DEF6	50619	broad.mit.edu	37	6	35289050	35289050	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:35289050C>T	uc003okk.3	+	10	1798	c.1759C>T	c.(1759-1761)Cgc>Tgc	p.R587C	DEF6_uc010jvs.3_Missense_Mutation_p.R562C|DEF6_uc010jvt.3_Missense_Mutation_p.R332C	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	587						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GCGCCTGACCCGCTGGGGATC	0.642000														140			57		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543929	141543929	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:141543929G>T	uc010ioj.3	-	20	3493	c.3221C>A	c.(3220-3222)cCt>cAt	p.P1074H		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	1074						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTCCTTTGCAGGCTGGGCCAC	0.657000														24			7		1.06961e-07	1.07237e-07	1	1	0
POU5F1B	5462	broad.mit.edu	37	8	128428313	128428313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:128428313G>A	uc003ysf.3	+	0	457	c.202G>A	c.(202-204)Gag>Aag	p.E68K	LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|POU5F1B_uc011liu.1_Non-coding_Transcript	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN	Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA.	68						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						CCCGCCGTATGAGTTATGTGG	0.657000														24			15		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111030	7111030	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7111030G>A	uc001mfc.2	+	0	866	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	227	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGACTACCGCGAACCCCGGGG	0.706000														24			8		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50464087	50464087	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:50464087C>T	uc021vhh.1	-	16	4307	c.3386G>A	c.(3385-3387)aGc>aAc	p.S1129N	NRXN1_uc010fbp.3_Missense_Mutation_p.S94N|NRXN1_uc002rxb.4_Missense_Mutation_p.S801N|NRXN1_uc021vhg.1_Missense_Mutation_p.S1169N|NRXN1_uc021vhi.1_Missense_Mutation_p.S1165N|NRXN1_uc021vhj.1_Missense_Mutation_p.S1125N|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1129	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.S94I(1)|p.S1170I(1)|p.S1129I(1)|p.S1169I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACCACCTTTGCTAAAGATATA	0.413000														76			35		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505308	155505308	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155505308G>A	uc003iod.1	-	5	2627	c.2569C>T	c.(2569-2571)Cgc>Tgc	p.R857C		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	857	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R857C(2)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ATTTTCATGCGAACAGCCCTG	0.473000														133			13		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47876552	47876552	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:47876552G>A	uc003tny.2	-	36	5944	c.5910C>T	c.(5908-5910)ctC>ctT	p.L1970L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1970					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCAGGGCAGTGAGACACGCGT	0.602000														27			9		0	0	1	0	0
TCRBV5S2	0	broad.mit.edu	37	7	142131517	142131517	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142131517G>A	uc010lnz.1	-	1	282	c.238C>T	c.(238-240)Cct>Tct	p.P80S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRBV5S2_uc022ang.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		AATCGATCAGGGAAGTTGCCT	0.537000														76			28		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6505811	6505811	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6505811A>T	uc001amy.3	+	6	1448	c.1280A>T	c.(1279-1281)aAg>aTg	p.K427M	ESPN_uc001amz.3_5'Flank	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	427					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		ACGATTGGGAAGcccacaccc	0.687000														11			7		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2153339	2153339	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2153339C>A	uc002cos.1	-	22	8928	c.8719G>T	c.(8719-8721)Gct>Tct	p.A2907S	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.A2907S|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2907					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGACCACAGCACCGACGGAG	0.692000														91			15		1.2644e-06	1.26699e-06	1	1	0
C15orf53	400359	broad.mit.edu	37	15	38990708	38990708	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:38990708C>T	uc001zkf.1	+	1	512	c.502C>T	c.(502-504)Cct>Tct	p.P168S		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	Homo sapiens chromosome 15 open reading frame 53 (C15orf53), mRNA.	168										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		CCTCTCAGATCCTCTGGGGGT	0.527000														13			12		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169512260	169512260	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169512260C>T	uc001ggg.1	-	12	2213	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	690					cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TATGAGTCTTCATCATCATCT	0.393000														170			43		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626688	140626688	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140626688C>T	uc003lje.3	+	0	1542	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	514	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCTGTTCGCTCTCCAGT	0.692000														198			41		0	0	1	0	0
SHD	56961	broad.mit.edu	37	19	4284825	4284825	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4284825G>A	uc002lzw.2	+	3	2103	c.640G>A	c.(640-642)Gag>Aag	p.E214K		NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA.	214								p.K213N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAGCCAAGGAGCTCCGGAG	0.617000														49			14		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594959	55594959	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55594959G>A	uc001nhy.1	+	0	265	c.265G>A	c.(265-267)Gac>Aac	p.D89N		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTTTAACAAGGACAAAGCCAT	0.473000										HNSCC(27;0.073)				209			78		0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128177561	128177561	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:128177561G>A	uc002tol.3	+	1	133	c.106G>A	c.(106-108)Gga>Aga	p.G36R	PROC_uc002tok.3_Missense_Mutation_p.G15R|PROC_uc010yzi.2_Missense_Mutation_p.G36R|PROC_uc010yzj.2_5'UTR|PROC_uc010yzk.2_Missense_Mutation_p.G36R	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	15					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GGCCACCTGGGGAATTTCCGG	0.642000														50			18		0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49726071	49726071	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49726071G>A	uc003cxg.3	-	0	126	c.54C>T	c.(52-54)ctC>ctT	p.L18L	MST1_uc011bcs.1_Silent_p.L18L|MST1_uc010hkx.2_5'UTR|MST1_uc011bct.1_Silent_p.L18L|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	4					proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAGGAGTGGGAGCCACCCCA	0.612000														15			8		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14508475	14508475	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:14508475C>T	uc003jff.3	+	56	9244	c.9238C>T	c.(9238-9240)Cga>Tga	p.R3080*	TRIO_uc003jfg.3_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	3080					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GAATGATGTTCGACCTATCCG	0.522000														105			35		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29455288	29455288	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29455288C>T	uc002rmy.3	-	14	3466	c.2514G>A	c.(2512-2514)ctG>ctA	p.L838L		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	838	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CTGCAATGATCAGGGGCACCG	0.572000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					35			15		0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519078	53519078	+	Silent	SNP	G	A	A	rs138040011		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:53519078G>A	uc003pcb.4	-	1	1134	c.993C>T	c.(991-993)tcC>tcT	p.S331S		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CTCTGCTAAGGGACTTCTCAG	0.488000														89			41		0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090016	115090016	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:115090016C>T	uc001vuv.3	+	2	1031	c.699C>T	c.(697-699)ttC>ttT	p.F233F	CHAMP1_uc010tko.2_Silent_p.F233F|CHAMP1_uc010ahb.3_Silent_p.F233F|CHAMP1_uc021rmx.1_Silent_p.F233F	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	233	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										AGTCTCATTTCCCGGAAACAT	0.532000														156			9		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69329483	69329484	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:69329483_69329484CC>TT	uc002ars.2	+	7	1345_1346	c.1304_1305CC>TT	c.(1303-1305)gcc>gTT	p.A435V	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.A389V|NOX5_uc002arp.2_Missense_Mutation_p.A417V|NOX5_uc010bid.2_Missense_Mutation_p.A400V|NOX5_uc010bie.2_Missense_Mutation_p.A235V|NOX5_uc002arr.2_Missense_Mutation_p.A407V|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	435	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CTGGAGAAGGCCATCGGACTGG	0.569000														98			36		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9523353	9523354	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9523353_9523354GG>AA	uc002wnl.2	-	9	2428_2429	c.1883_1884CC>TT	c.(1882-1884)tcc>tTT	p.S628F	PAK7_uc002wnk.2_Missense_Mutation_p.S628F|PAK7_uc002wnj.2_Missense_Mutation_p.S628F|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	628	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGATCCCGAGGGACCAGATGTC	0.515000														76			19		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133900607	133900607	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133900607G>A	uc003ytw.3	+	9	2596	c.2555G>A	c.(2554-2556)gGg>gAg	p.G852E		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	852	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCACTGGAAGGGAAACGGCCC	0.537000														56			19		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101016248	101016248	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:101016248G>A	uc003yjb.1	-	16	2728	c.2533C>T	c.(2533-2535)Cct>Tct	p.P845S	RGS22_uc003yja.1_Missense_Mutation_p.P664S|RGS22_uc003yjc.1_Missense_Mutation_p.P833S|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.P234S|SNORD77_uc022azg.1_5'Flank	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	845					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TATTCTGCAGGAACATTATCC	0.373000														60			22		0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55522891	55522891	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:55522891G>A	uc002ryv.2	-	30	6232	c.5390C>T	c.(5389-5391)cCt>cTt	p.P1797L	CCDC88A_uc010ypa.1_Intron|CCDC88A_uc010yoz.1_Missense_Mutation_p.P1770L|CCDC88A_uc002ryt.2_Missense_Mutation_p.P88L|CCDC88A_uc010fbw.2_Missense_Mutation_p.P299L|CCDC88A_uc002ryu.2_Missense_Mutation_p.P1052L|CCDC88A_uc002rys.3_Missense_Mutation_p.P755L|CCDC88A_uc002ryw.3_Missense_Mutation_p.P1081L|CCDC88A_uc010fby.1_Missense_Mutation_p.P649L	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	1798					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AGTTGCATAAGGGTTACTATC	0.413000														79			31		0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810341	106810341	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:106810341G>A	uc009yxn.1	-	3	1441	c.1051C>T	c.(1051-1053)Cga>Tga	p.R351*	GUCY1A2_uc001pjg.1_Nonsense_Mutation_p.R351*|GUCY1A2_uc010rvo.1_Nonsense_Mutation_p.R351*	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	351					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GTGTCACATCGAAGCTGCTTC	0.473000														34			21		0	0	1	0	0
ATP6V0E2	155066	broad.mit.edu	37	7	149576474	149576474	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149576474C>T	uc003wgr.3	+	3	1370	c.419C>T	c.(418-420)tCg>tTg	p.S140L	ATP6V0E2_uc003wgp.3_3'UTR|ATP6V0E2_uc003wgs.3_Missense_Mutation_p.S117L|ATP6V0E2_uc003wgq.3_Non-coding_Transcript|DQ590227_uc003wgt.1_5'Flank	NM_145230	NP_660265	Q8NHE4	VA0E2_HUMAN	Homo sapiens ATPase, H+ transporting V0 subunit e2 (ATP6V0E2), transcript variant 1, mRNA.	0					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			ACAACCCCTTCGTCCGGACCC	0.622000														17			9		0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23443310	23443310	+	Silent	SNP	G	A	A	rs146599877	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23443310G>A	uc001whz.3	-	6	1810	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	AJUBA_uc001why.3_Silent_p.I62I	NM_032876	NP_116265	Q96IF1	JUB_HUMAN	Homo sapiens ajuba LIM protein (AJUBA), transcript variant 1, mRNA.	479	LIM zinc-binding 3.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										TCACCCTCACGATGTCCTCAC	0.537000											OREG0022591	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		143			57		0	0	1	0	0
SCN4B	6330	broad.mit.edu	37	11	118015844	118015844	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:118015844G>A	uc001pse.3	-	1	404	c.162C>T	c.(160-162)acC>acT	p.T54T	SCN4B_uc010rxu.2_5'UTR|SCN4B_uc010rxv.2_Intron	NM_174934	NP_001135821	Q8IWT1	SCN4B_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, beta (SCN4B), transcript variant 1, mRNA.	54	Ig-like C2-type.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		AGCTGGAGAAGGTGCAGGGCA	0.557000											OREG0021380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		146			39		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71155355	71155355	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:71155355C>T	uc001swi.2	-	3	937	c.523G>A	c.(523-525)Gga>Aga	p.G175R	PTPRR_uc010stq.2_Missense_Mutation_p.G63R	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	175					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCAGAAATTCCTGTTTTTCGG	0.343000														137			34		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539691	94539691	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94539691G>A	uc003unp.3	+	1	548	c.266G>A	c.(265-267)gGg>gAg	p.G89E	PPP1R9A_uc010lfj.3_Missense_Mutation_p.G89E|PPP1R9A_uc011kif.2_Missense_Mutation_p.G89E|PPP1R9A_uc003unq.3_Missense_Mutation_p.G89E|PPP1R9A_uc011kig.2_Missense_Mutation_p.G89E	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	89	Actin-binding.					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)			AAAACAAGGGGGAAAGGTGGA	0.418000										HNSCC(28;0.073)				36			23		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49005761	49005761	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:49005761C>T	uc003gyv.3	+	6	994	c.812C>T	c.(811-813)tCa>tTa	p.S271L	CWH43_uc011bzl.2_Missense_Mutation_p.S244L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	271					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GGAACAGCTTCAGCTGCGGGG	0.502000														86			42		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96533503	96533503	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:96533503C>T	uc010how.1	+	0	79	c.36C>T	c.(34-36)tcC>tcT	p.S12S	EPHA6_uc003drp.1_Silent_p.S12S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	0						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						CGAGGAGCTCCCCGGCGCCGC	0.711000														24			9		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416290	86416290	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:86416290G>A	uc003uid.3	+	2	2281	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V	GRM3_uc010lef.3_Silent_p.V392V|GRM3_uc010leg.3_Silent_p.V266V|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	394					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)	TGTTTGTGGTGAACGCGGTGT	0.547000														91			32		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989385	53989385	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:53989385G>A	uc011dxa.2	+	2	400	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	MLIP_uc003pcf.2_Missense_Mutation_p.E112K|MLIP_uc003pcg.4_Missense_Mutation_p.E112K|MLIP_uc003pch.4_Missense_Mutation_p.E50K|MLIP_uc011dwz.1_Missense_Mutation_p.E71K	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	112						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AAGGGAATTCGAAGCAAACAA	0.453000														95			34		0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70716379	70716379	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:70716379C>T	uc001des.3	+	12	1470	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	SRSF11_uc001det.3_Missense_Mutation_p.S448F|SRSF11_uc001dev.3_Missense_Mutation_p.S259F|SRSF11_uc001dew.3_Missense_Mutation_p.S389F	NM_004768	NP_004759	Q05519	SRS11_HUMAN	Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA.	449					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			large_intestine(3)|ovary(2)|skin(1)	6						GAAACAGGTTCCCCTAAAACA	0.408000														69			11		0	0	1	0	0
SMAD5	4090	broad.mit.edu	37	5	135513139	135513139	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:135513139C>T	uc003lbj.1	+	9	1810	c.1366C>T	c.(1366-1368)Cct>Tct	p.P456S	SMAD5_uc003lbk.1_Missense_Mutation_p.P456S|SMAD5_uc003lbl.1_Missense_Mutation_p.P456S	NM_001001419	NP_001001419	Q99717	SMAD5_HUMAN	Homo sapiens SMAD family member 5 (SMAD5), transcript variant 2, mRNA.	457	MH2.				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATGGGCTCCCCTCTGAACCC	0.398000														22			7		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48261760	48261760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:48261760G>A	uc002eff.1	-	2	702	c.352C>T	c.(352-354)Cct>Tct	p.P118S	ABCC11_uc002efg.1_Missense_Mutation_p.P118S|ABCC11_uc002efh.1_Missense_Mutation_p.P118S|ABCC11_uc010vgl.1_Missense_Mutation_p.P118S	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	118						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GACAGTGGAGGGATGGTGTTC	0.522000														128			44		0	0	1	0	0
PABPC1P2	728773	broad.mit.edu	37	2	147346169	147346169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:147346169G>A	uc002twf.4	+	0	1545	c.629G>A	c.(628-630)cGa>cAa	p.R210Q						Homo sapiens poly(A) binding protein, cytoplasmic 1 pseudogene 2 (PABPC1P2), non-coding RNA.																		GCAAGTGTACGAGCTGTGCCC	0.507000														41			13		0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594836	41594836	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41594836C>T	uc002opt.3	+	1	192	c.183C>T	c.(181-183)atC>atT	p.I61I		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	61					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TCCAACAGATCAGTGAGCGCT	0.612000														63			20		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88769450	88769450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:88769450G>A	uc001kee.2	+	11	2645	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	481					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GGAGGTGAACGAGACCTGTGG	0.672000														130			64		0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806670	6806670	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6806670C>T	uc001mer.2	+	0	423	c.402C>T	c.(400-402)acC>acT	p.T134T		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 1 (OR2AG1), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATACATGACCCTCATGAGCT	0.527000														53			19		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167247009	167247009	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:167247009G>A	uc003fev.1	-	9	1485	c.1181C>T	c.(1180-1182)tCa>tTa	p.S394L	WDR49_uc003feu.1_Missense_Mutation_p.S219L|WDR49_uc011bpd.1_Missense_Mutation_p.S458L|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	394										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCCTCCACATGATACCAGGTT	0.383000														48			27		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38889214	38889214	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38889214C>T	uc021wvy.1	-	25	4546	c.4347G>A	c.(4345-4347)ttG>ttA	p.L1449L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1449					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCTGATTTTCCAAGGTAGAAA	0.502000														36			4		0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934796	113934796	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113934796G>A	uc001pop.3	+	1	1038	c.774G>A	c.(772-774)ggG>ggA	p.G258G	ZBTB16_uc001poo.1_Silent_p.G258G|ZBTB16_uc001poq.3_Silent_p.G258G	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	258					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		ACAGCCCTGGGGCAGCCGAGT	0.647000														18			15		0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20216065	20216065	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:20216065C>T	uc002nor.2	+	2	305	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	ZNF90_uc021url.1_Non-coding_Transcript	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	56	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						GATCACCTGTCTGGAGCAAGG	0.388000														93			36		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13418659	13418659	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:13418659G>A	uc002mwy.3	-	14	2159	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	CACNA1A_uc010dzc.2_Silent_p.F167F|CACNA1A_uc010xnd.2_Silent_p.F641F|CACNA1A_uc021ups.1_Silent_p.F641F|CACNA1A_uc010xne.2_Silent_p.F641F|CACNA1A_uc010dze.2_Silent_p.F641F|CACNA1A_uc021upt.1_Silent_p.F642F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	642					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCCTTCATCGAAATTAAACC	0.547000														91			19		0	0	1	0	0
SLC39A13	91252	broad.mit.edu	37	11	47436453	47436453	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:47436453G>A	uc009ylq.3	+	7	1088	c.912G>A	c.(910-912)aaG>aaA	p.K304K	SLC39A13_uc001nfd.3_3'UTR|SLC39A13_uc001nfe.1_Non-coding_Transcript|SLC39A13_uc001nff.4_Silent_p.K304K	NM_001128225	NP_001121697	Q96H72	S39AD_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 13 (SLC39A13), transcript variant 1, mRNA.	304					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		AGTCCCCCAAGGGAGTAGGTA	0.682000														56			23		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48452052	48452052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48452052G>A	uc003toq.2	+	40	12355	c.12331G>A	c.(12331-12333)Gag>Aag	p.E4111K	ABCA13_uc010kys.1_Missense_Mutation_p.E1185K|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4111					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGTGGAAGTGAGCTGACCTA	0.493000														44			18		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181386	140181386	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140181386C>T	uc003lhf.2	+	0	604	c.604C>T	c.(604-606)Cga>Tga	p.R202*	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Nonsense_Mutation_p.R202*	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	217	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.E202*(1)		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)			AAATTTAAATCGAGAGGACAC	0.363000														109			12		0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52567414	52567414	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52567414C>T	uc001rzw.3	-	2	957	c.906G>A	c.(904-906)ctG>ctA	p.L302L	KRT80_uc001rzy.3_Silent_p.L267L|KRT80_uc001rzx.3_Silent_p.L267L	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	267	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CGGCCTCCTCCAGGCTGCGAG	0.662000														77			28		0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52371064	52371064	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:52371064G>A	uc003joy.3	+	22	2898	c.2755G>A	c.(2755-2757)Gaa>Aaa	p.E919K	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.E843K|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	919					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AAGCCAAGAAGAAAACAAGGC	0.348000														39			21		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367211	107367211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107367211C>T	uc011lvq.2	-	0	698	c.698G>A	c.(697-699)gGg>gAg	p.G233E		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E232K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TTTGCTTCTCCCCTCGGAAGA	0.413000														68			25		0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156351641	156351641	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156351641G>A	uc010pho.2	+	5	923	c.885G>A	c.(883-885)ggG>ggA	p.G295G	RHBG_uc010phm.1_Silent_p.G133G|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Silent_p.G226G|RHBG_uc009wrz.3_Silent_p.G263G|RHBG_uc001for.3_Silent_p.G265G	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	295					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TTGTGGTGGGGACCTCAAGTG	0.557000														64			24		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8214429	8214429	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:8214429C>T	uc003gkv.4	+	4	349	c.248_splice	c.e4-1	p.D83_splice	SH3TC1_uc003gkw.4_Splice_Site_p.D7_splice|SH3TC1_uc003gkx.4_Splice_Site	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	83							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCCCTCCAGACCTGACCCTGC	0.652000														15			11		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103143606	103143606	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:103143606G>A	uc022ajr.1	-	51	8506	c.8346C>T	c.(8344-8346)ttC>ttT	p.F2782F	RELN_uc022ajq.1_Silent_p.F2782F|RELN_uc010liz.3_Silent_p.F2782F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2782					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	p.F2782L(2)		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)		AACTCACACCGAAGTCAGTAG	0.408000														73			35		0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492823	21492823	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:21492823C>T	uc002wsi.3	-	1	917	c.560G>A	c.(559-561)cGg>cAg	p.R187Q		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	187					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TTTCTCGGCCCGGGCGCGCTT	0.677000														38			15		0	0	1	0	0
TRIL	9865	broad.mit.edu	37	7	28997133	28997133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:28997133G>A	uc003szt.3	-	2	894	c.527C>T	c.(526-528)cCc>cTc	p.P176L	DQ601810_uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	Homo sapiens TLR4 interactor with leucine-rich repeats (TRIL), mRNA.	177					inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										GTTGCCCAAGGGAGCGAAGAC	0.652000														33			11		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754848	49754848	+	Missense_Mutation	SNP	C	T	T	rs149194608		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:49754848C>T	uc003ozu.3	-	0	206	c.53G>A	c.(52-54)cGa>cAa	p.R18Q		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	18					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CATGATGACTCGCTTCCCTCT	0.418000														76			33		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4829647	4829647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:4829647G>A	uc003bqc.3	+	50	6937	c.6587G>A	c.(6586-6588)cGa>cAa	p.R2196Q	ITPR1_uc021wsi.1_Missense_Mutation_p.R2163Q|ITPR1_uc021wsj.1_Missense_Mutation_p.R2148Q|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2211					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGATTAGACCGAACAATGGAA	0.383000														18			5		0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157803146	157803146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157803146G>A	uc001frk.4	-	4	1018	c.875C>T	c.(874-876)tCt>tTt	p.S292F		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	292	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GAAGGAGGGAGAGAGGGACTT	0.587000														125			15		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32090200	32090200	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:32090200C>G	uc003jhl.3	+	19	7034	c.6646C>G	c.(6646-6648)Cca>Gca	p.P2216A	PDZD2_uc003jhm.3_Missense_Mutation_p.P2216A	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2216					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTACTTCACCCCAAGGCCAGC	0.617000														336			62		0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39994806	39994806	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39994806G>A	uc002olx.2	+	4	806	c.748G>A	c.(748-750)Gtc>Atc	p.V250I	DLL3_uc010egq.3_Missense_Mutation_p.V250I|DLL3_uc002olw.2_Missense_Mutation_p.V250I	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA.	250					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCTCTGCACGGTCCCTGTCTC	0.667000														44			22		0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180432565	180432565	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:180432565G>A	uc003mmr.3	+	7	1278	c.1094G>A	c.(1093-1095)gGg>gAg	p.G365E	BTNL3_uc010jlp.3_Missense_Mutation_p.G150E	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	365	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GTAGACAGGGGGAAGAACAAT	0.478000														60			18		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49244651	49244651	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:49244651C>T	uc002rww.3	-	3	461	c.351G>A	c.(349-351)caG>caA	p.Q117Q	FSHR_uc010fbn.3_Silent_p.Q117Q|FSHR_uc002rwx.3_Silent_p.Q117Q|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	117					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGGGAAGGTTCTGGAAGGCCT	0.393000									Gonadal Dysgenesis, 46 XX					66			19		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59170239	59170239	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:59170239G>A	uc010dps.1	+	3	867	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	CDH20_uc002lif.2_Missense_Mutation_p.E233K	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	239	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)				AGAATACTACGAAGTGATTAT	0.448000											OREG0025026	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		103			56		0	0	1	0	0
NPS	594857	broad.mit.edu	37	10	129347818	129347818	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:129347818C>T	uc001ljx.1	+	1	94	c.74C>T	c.(73-75)cCa>cTa	p.P25L		NM_001030013	NP_001025184	P0C0P6	NPS_HUMAN	Homo sapiens neuropeptide S (NPS), transcript variant 1, mRNA.	25					neuropeptide signaling pathway	extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TGGTGTTATCCAGTTCCATCT	0.343000														66			22		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183728	13183728	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:13183728G>A	uc010obg.2	-	1	388	c.145C>T	c.(145-147)Cat>Tat	p.H49Y		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	49						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										AAGCCCTTATGAACAGAGCAG	0.468000														66			32		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133984069	133984069	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133984069G>A	uc003ytw.3	+	32	6047	c.6006G>A	c.(6004-6006)gcG>gcA	p.A2002A	TG_uc010mdw.3_Silent_p.A761A|TG_uc011ljb.2_Silent_p.A371A|TG_uc011ljc.2_Silent_p.A156A	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2002					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.D2001N(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGTGCGATGCGGACCCATGCT	0.493000														64			17		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185018422	185018422	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:185018422C>T	uc003iwc.3	-	6	1235	c.1093G>A	c.(1093-1095)Ggc>Agc	p.G365S		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	365					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		AGGAAGATGCCCCGCATGTCC	0.592000														80			15		0	0	1	0	0
PRR23A	729627	broad.mit.edu	37	3	138724783	138724783	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:138724783C>T	uc011bms.2	-	0	328	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K		NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN	Homo sapiens proline rich 23A (PRR23A), mRNA.	110										endometrium(3)|kidney(1)|lung(7)	11						CCTGAGCGTTCGTCGACAGAG	0.617000														21			12		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38885838	38885838	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38885838G>A	uc021yzh.1	+	69	10555	c.10446G>A	c.(10444-10446)ggG>ggA	p.G3482G	DNAH8_uc003ooe.2_Silent_p.G3265G|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGTCTGTGGGAATGTGGCTG	0.388000														66			26		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123244952	123244952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:123244952C>T	uc021pzz.1	-	15	2799	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	FGFR2_uc021pzv.1_Missense_Mutation_p.E606K|FGFR2_uc021pzw.1_Missense_Mutation_p.E603K|FGFR2_uc021pzx.1_Missense_Mutation_p.E629K|FGFR2_uc021pzy.1_Missense_Mutation_p.E719K|FGFR2_uc010qtl.2_Missense_Mutation_p.E602K|FGFR2_uc010qtm.2_Missense_Mutation_p.E601K|FGFR2_uc021qaa.1_Missense_Mutation_p.E719K|FGFR2_uc021qab.1_Missense_Mutation_p.E630K|FGFR2_uc021qac.1_Missense_Mutation_p.E647K|FGFR2_uc001lfg.4_Missense_Mutation_p.E326K|FGFR2_uc001lfk.1_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	718	Protein kinase.				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)	CTGTGTCCTTCCTTCAGCAGC	0.537000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					118			50		0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42858582	42858582	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:42858582G>A	uc010skv.2	-	6	1541	c.1254C>T	c.(1252-1254)ctC>ctT	p.L418L	PRICKLE1_uc001rnl.3_Silent_p.L418L|PRICKLE1_uc010skw.2_Silent_p.L418L|PRICKLE1_uc001rnm.3_Silent_p.L418L	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	418					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		ACTTGAGGAGGAGCTGCGTCA	0.438000														38			6		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29049290	29049290	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29049290C>T	uc002kws.3	+	11	1984	c.1875C>T	c.(1873-1875)ctC>ctT	p.L625L		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	625					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCCTGCTGCTCCTTGGTCTCC	0.597000														68			29		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886858	123886858	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123886858G>A	uc010sac.2	+	0	577	c.577G>A	c.(577-579)Gcc>Acc	p.A193T		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A193T(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGACACCTCAGCCAACGTGAT	0.527000														147			93		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108178243	108178243	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108178243C>T	uc003dxa.1	-	18	2103	c.2046G>A	c.(2044-2046)gtG>gtA	p.V682V		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	682	Actin-binding (By similarity).|Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						TTATGCATCTCACAAAATGAG	0.303000														40			14		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88583945	88583945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:88583945G>A	uc003hqv.3	+	5	1119	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	DMP1_uc003hqw.3_Missense_Mutation_p.E323K	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	339					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TCCCAGCAGTGAGTCCAGCCA	0.552000														95			13		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44054630	44054630	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44054630C>T	uc001cjr.3	+	7	1248	c.908C>T	c.(907-909)tCg>tTg	p.S303L	PTPRF_uc001cjs.3_Missense_Mutation_p.S303L|PTPRF_uc001cju.3_5'Flank|PTPRF_uc009vwt.3_5'Flank|PTPRF_uc001cjv.3_5'Flank	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	303	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCATCTCCTCGCTGGGCATG	0.597000														25			8		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139838948	139838948	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:139838948C>T	uc003yvd.3	-	5	1369	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	308	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.K307K(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TACCAGTCTTCCTTCCGAGAG	0.507000										HNSCC(7;0.00092)				55			28		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236925911	236925911	+	Missense_Mutation	SNP	G	A	A	rs142646143		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:236925911G>A	uc001hyf.2	+	20	2881	c.2677G>A	c.(2677-2679)Gat>Aat	p.D893N	ACTN2_uc001hyg.2_Missense_Mutation_p.D685N|ACTN2_uc009xgi.1_Missense_Mutation_p.D893N|ACTN2_uc010pxu.1_Missense_Mutation_p.D582N	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	893					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding	p.D893Y(4)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGGGGAGAGCGATCTGTGATG	0.507000														29			11		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166847761	166847761	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166847761C>T	uc002udo.4	-	27	6251	c.6024G>A	c.(6022-6024)ggG>ggA	p.G2008G	SCN1A_uc010fpk.3_Silent_p.G1980G|SCN1A_uc021vsb.1_Silent_p.G1997G	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	2008						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	tcatttatttCCCTTTGGCTT	0.393000														19			12		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165602	151165602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151165602C>T	uc011bod.2	-	3	2167	c.2167G>A	c.(2167-2169)Gaa>Aaa	p.E723K		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	723					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGTTAATTCCCGATAGTTG	0.493000														46			28		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768403	117768403	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117768403C>T	uc001twn.2	-	1	1183	c.472G>A	c.(472-474)Ggg>Agg	p.G158R	NOS1_uc001twm.2_Missense_Mutation_p.G158R	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	158	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGCTGAGGCCCATTCCCGGGA	0.701000														93			20		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117993041	117993041	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117993041C>T	uc001two.2	-	8	1419	c.1364G>A	c.(1363-1365)cGg>cAg	p.R455Q		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	484					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGTGGCTTCCGTAGAGGGTT	0.502000														22			14		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62299448	62299448	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62299448G>A	uc001dab.3	+	16	2217	c.2103G>A	c.(2101-2103)ttG>ttA	p.L701L	INADL_uc009waf.1_Silent_p.L701L|INADL_uc001daa.2_Silent_p.L701L|INADL_uc001dad.3_Silent_p.L398L|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	701	PDZ 5.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TCAGCATTTTGGATTACCAGG	0.378000														125			25		0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121944331	121944331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:121944331C>T	uc003vkd.3	-	0	235	c.161G>A	c.(160-162)gGa>gAa	p.G54E	FEZF1_uc003vkc.3_Missense_Mutation_p.G54E|LOC154860_uc010lko.2_Intron	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	54					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GGGTAAGGCTCCCTGCAGGAA	0.597000														117			45		0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119652620	119652620	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:119652620G>A	uc003ici.4	-	20	2991	c.2719C>T	c.(2719-2721)Cgt>Tgt	p.R907C	SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Missense_Mutation_p.R908C|SEC24D_uc003ick.2_Missense_Mutation_p.R69C	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	907					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding	p.R907C(2)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TCAGAGCAACGAACGGCAGCA	0.483000														98			45		0	0	1	0	0
CGREF1	10669	broad.mit.edu	37	2	27324423	27324423	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:27324423C>T	uc010eyr.2	-	4	1047	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	CGREF1_uc010ylf.2_Intron|CGREF1_uc021vez.1_Intron|CGREF1_uc002riq.3_Missense_Mutation_p.E226K|CGREF1_uc021vfa.1_Missense_Mutation_p.E226K|CGREF1_uc010eys.2_Missense_Mutation_p.E226K|CGREF1_uc002rir.2_Missense_Mutation_p.E226K	NM_006569	NP_006560	Q99674	CGRE1_HUMAN	Homo sapiens cell growth regulator with EF-hand domain 1 (CGREF1), transcript variant 1, mRNA.	226					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTGGCCCTCAGCTTCCCCT	0.672000														270			133		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189873680	189873680	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:189873680C>T	uc002uqj.1	+	47	3673	c.3556C>T	c.(3556-3558)Cct>Tct	p.P1186S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1186	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GCAACCAGGCCCTCCTGGACC	0.557000														90			25		0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151259552	151259552	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151259552T>A	uc001exq.3	+	1	883	c.785T>A	c.(784-786)tTc>tAc	p.F262Y	ZNF687_uc001exp.1_Missense_Mutation_p.F271Y|ZNF687_uc009wmo.3_Missense_Mutation_p.F262Y|ZNF687_uc009wmp.3_Missense_Mutation_p.F262Y	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	262	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGGTGCCCTTCTTCAAGCAG	0.622000														124			31		0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114680148	114680148	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:114680148G>A	uc021osa.1	-	2	1118	c.1040C>T	c.(1039-1041)tCc>tTc	p.S347F	SYT6_uc021orz.1_Missense_Mutation_p.S262F|SYT6_uc001eev.3_Missense_Mutation_p.S262F	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	347					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCCAGATGGAGGTTTCCCG	0.522000														66			33		0	0	1	0	0
RAB6C	84084	broad.mit.edu	37	2	130738443	130738443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:130738443C>T	uc002tpx.1	+	0	1209	c.755C>T	c.(754-756)tCg>tTg	p.S252L	LOC100131320_uc002tpw.1_5'Flank	NM_032144	NP_115520	Q9H0N0	RAB6C_HUMAN	Homo sapiens RAB6C, member RAS oncogene family (RAB6C), mRNA.	252					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					CTGCCTGTCTCGTGGAGGTGA	0.373000														84			31		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77386640	77386640	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77386640C>T	uc004ajl.1	-	24	3753	c.3515G>A	c.(3514-3516)cGa>cAa	p.R1172Q	TRPM6_uc004ajk.1_Missense_Mutation_p.R1167Q|TRPM6_uc022bib.1_Missense_Mutation_p.R1167Q|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.R128Q	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1172					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACTCGGATTCGTTCCTCACA	0.368000														79			7		0	0	1	0	0
PAFAH2	5051	broad.mit.edu	37	1	26311004	26311004	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26311004G>A	uc001bld.4	-	4	537	c.357C>T	c.(355-357)gcC>gcT	p.A119A	PAFAH2_uc001ble.4_Silent_p.A119A	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA.	119					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGCAGAAGGCTGAATACA	0.527000														34			11		0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159707595	159707595	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:159707595G>A	uc003lyb.1	-	2	469	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	CCNJL_uc011dee.1_Missense_Mutation_p.R73C|CCNJL_uc003lyc.1_Non-coding_Transcript|CCNJL_uc011def.1_Missense_Mutation_p.R73C	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	73	Cyclin N-terminal.					nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACGTTGTAGCGATCCATGAAG	0.617000														73			17		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47247088	47247088	+	Nonstop_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:47247088T>C	uc002ion.2	+	10	1758	c.1699T>C	c.(1699-1701)Taa>Caa	p.*567Q	B4GALNT2_uc010wlt.1_Nonstop_Mutation_p.*481Q|B4GALNT2_uc010wlu.1_Nonstop_Mutation_p.*507Q	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	0					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			ATGTGCCGCATAAAGGTGTGA	0.502000														25			13		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46713683	46713684	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46713683_46713684GG>TA	uc003cqa.2	-	22	2673_2674	c.2480_2481CC>TA	c.(2479-2481)tcc>tTA	p.S827L	ALS2CL_uc003cpx.2_Missense_Mutation_p.S174L|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Missense_Mutation_p.S342L|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.S827L	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	827	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCCTGACCAGGGAGTACCTCTG	0.649000														34			9		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137702101	137702101	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:137702101G>A	uc004cfe.3	+	44	3857	c.3475_splice	c.e44-1	p.G1159_splice		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1159	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTTCCCCTAGGGAGAGATCGG	0.567000														70			20		0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10084736	10084736	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:10084736G>A	uc021xlv.1	-	9	1389	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	WDR1_uc021xlw.1_Missense_Mutation_p.S229F|WDR1_uc010idm.3_Non-coding_Transcript	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	369					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		GGTCATCCTGGACACCTGGTT	0.602000														27			13		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752667	36752667	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:36752667G>A	uc001cae.4	+	3	1060	c.836G>A	c.(835-837)aGc>aAc	p.S279N	THRAP3_uc001caf.4_Missense_Mutation_p.S279N|THRAP3_uc001cag.1_Missense_Mutation_p.S279N	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	279	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCACTTTCCAGCACATCCCAG	0.612000			T	USP6	aneurysmal bone cysts									102			44		0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672617	113672617	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:113672617C>T	uc003eau.3	+	2	531	c.232C>T	c.(232-234)Cga>Tga	p.R78*	ZDHHC23_uc003eav.3_Nonsense_Mutation_p.R72*	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	Homo sapiens zinc finger, DHHC-type containing 23 (ZDHHC23), mRNA.	78						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						TGATCGCCTCCGAATTCCTTG	0.453000														113			47		0	0	1	0	0
C20orf3	57136	broad.mit.edu	37	20	24959427	24959427	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:24959427G>A	uc002wtz.3	-	2	405	c.304C>T	c.(304-306)Ccg>Tcg	p.P102S	C20orf3_uc002wty.3_Missense_Mutation_p.P102S|C20orf3_uc010zsw.2_Missense_Mutation_p.P102S	NM_020531	NP_065392	Q9HDC9	APMAP_HUMAN	Homo sapiens chromosome 20 open reading frame 3 (C20orf3), mRNA.	102					biosynthetic process	cell surface|integral to membrane	arylesterase activity|strictosidine synthase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)	21						ATGGACTCCGGTCCAACAAGT	0.537000														59			25		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31133827	31133827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:31133827G>A	uc002rns.3	-	15	2254	c.1614C>T	c.(1612-1614)atC>atT	p.I538I	GALNT14_uc002rnq.3_Silent_p.I513I|GALNT14_uc010ymr.2_Silent_p.I498I|GALNT14_uc002rnr.3_Silent_p.I533I	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	533	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGTTGACGACGATTTCCTTGC	0.557000														67			27		0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46946496	46946496	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:46946496G>A	uc010acl.3	-	2	720	c.115C>T	c.(115-117)Cct>Tct	p.P39S	KIAA0226L_uc001vbf.4_Intron|KIAA0226L_uc010tfz.2_Intron|KIAA0226L_uc010acn.3_Intron|KIAA0226L_uc010acm.3_Intron|KIAA0226L_uc001vbe.4_Missense_Mutation_p.P39S|KIAA0226L_uc001vbh.4_Missense_Mutation_p.P39S|KIAA0226L_uc001vbi.4_Intron|KIAA0226L_uc010aco.1_Missense_Mutation_p.P39S	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	39								p.P38S(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AATTGGCAAGGAGGATGGTCA	0.542000														30			8		0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73839265	73839265	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73839265G>A	uc002jpp.3	-	2	616	c.236C>T	c.(235-237)tCt>tTt	p.S79F	UNC13D_uc010wsk.1_Missense_Mutation_p.S79F|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_5'Flank	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	79					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGCAGCTCAGAGGCCTCCGT	0.672000									Familial Hemophagocytic Lymphohistiocytosis					39			21		0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102951139	102951139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:102951139G>A	uc003hvy.4	+	9	1891	c.1617G>A	c.(1615-1617)atG>atA	p.M539I	BANK1_uc003hvx.4_Missense_Mutation_p.M524I|BANK1_uc010ill.3_Missense_Mutation_p.M406I|BANK1_uc003hvz.4_Missense_Mutation_p.M509I	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	539					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAGGCCAAATGGAAAGAAGTC	0.398000														72			28		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136113	40136113	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:40136113C>T	uc021qgf.1	-	0	1730	c.1730G>A	c.(1729-1731)gGa>gAa	p.G577E	LRRC4C_uc001mxc.1_Missense_Mutation_p.G573E|LRRC4C_uc001mxd.1_Missense_Mutation_p.G573E|LRRC4C_uc001mxa.1_Missense_Mutation_p.G577E|LRRC4C_uc001mxb.1_Missense_Mutation_p.G573E	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	577					regulation of axonogenesis	integral to membrane	protein binding	p.T576K(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGGTGTGTCTCCCGTAATCTC	0.458000														58			60		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55956220	55956220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:55956220C>T	uc003has.3	-	22	3397	c.3095G>A	c.(3094-3096)cGa>cAa	p.R1032Q	KDR_uc003hat.1_Missense_Mutation_p.R1032Q	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1032	Protein kinase.				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.R1032Q(4)|p.R1032*(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)	GAGGATATTTCGTGCCGCCAG	0.448000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				89			28		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130407850	130407850	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:130407850C>T	uc004ewe.4	-	19	4229	c.3946G>A	c.(3946-3948)Gaa>Aaa	p.E1316K	IGSF1_uc004ewd.3_Missense_Mutation_p.E1311K|IGSF1_uc022cdv.1_Missense_Mutation_p.E1302K|IGSF1_uc004ewf.2_Missense_Mutation_p.E1291K	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1311					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGTTCTCCTTCTTGGTTACAC	0.463000														48			89		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38103775	38103775	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38103775C>T	uc003chp.1	+	3	810	c.789C>T	c.(787-789)ttC>ttT	p.F263F	DLEC1_uc003cho.1_Silent_p.F263F|DLEC1_uc010hgv.1_Silent_p.F263F|DLEC1_uc010hgw.1_5'Flank|DLEC1_uc003chq.1_5'Flank	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	263					negative regulation of cell proliferation	cytoplasm		p.F263F(3)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTGCTGAGTTCGAAGATGAGT	0.453000														67			26		0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	57005376	57005376	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57005376G>A	uc001slq.1	-	6	1851	c.1657C>T	c.(1657-1659)Cgt>Tgt	p.R553C	BAZ2A_uc001slp.1_Missense_Mutation_p.R551C|BAZ2A_uc009zow.1_Missense_Mutation_p.R521C	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	553	MBD.				DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGGGGAAGACGAACTTCTTCT	0.418000														29			12		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28659848	28659848	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28659848C>T	uc002kwl.4	-	10	2082	c.1628G>A	c.(1627-1629)gGc>gAc	p.G543D	DSC2_uc002kwk.4_Missense_Mutation_p.G543D	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	543	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATTATATATGCCATTTTTGAT	0.388000														161			65		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404038	20404038	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20404038C>T	uc001vwj.2	+	0	272	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TCATTGATATCTGTCAGTCTA	0.393000														127			53		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56419205	56419205	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56419205C>T	uc010ygg.2	-	6	2425	c.2400G>A	c.(2398-2400)ctG>ctA	p.L800L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	800							ATP binding	p.L800M(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTTTAAGAATCAGGGGGACAG	0.498000														87			40		0	0	1	0	0
DNALI1	7802	broad.mit.edu	37	1	38027255	38027255	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:38027255G>A	uc001cbj.3	+	3	571	c.561G>A	c.(559-561)caG>caA	p.Q187Q	DNALI1_uc010oie.2_Non-coding_Transcript	NM_003462	NP_003453	O14645	IDLC_HUMAN	Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.	165					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	p.Y186C(1)		breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCTACCAGACCCTGTACG	0.597000											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			17		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2813223	2813223	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2813223G>A	uc022aqr.1	-	63	10272	c.9882C>T	c.(9880-9882)ttC>ttT	p.F3294F	CSMD1_uc011kwj.2_Silent_p.F2624F|CSMD1_uc010lrg.3_Silent_p.F1186F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3295	Sushi 28.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGTGTAGCCGAAAGTAGGAA	0.502000														82			22		0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2473276	2473276	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:2473276C>T	uc003smc.3	+	1	1165	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	CHST12_uc003smd.3_Silent_p.I334I|CHST12_uc021zyu.1_Silent_p.I334I|CHST12_uc021zyv.1_Silent_p.I334I	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	334					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CGTGCCAGATCGACTACGACT	0.657000														58			7		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176671814	176671814	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176671814C>T	uc001gkz.3	+	8	4472	c.3308C>T	c.(3307-3309)tCg>tTg	p.S1103L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1103					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.S1103L(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAGAAGCTTCGCCTCCTCTG	0.493000														80			24		0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38775237	38775237	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:38775237C>T	uc003gtj.3	-	3	2613	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	TLR10_uc021xnk.1_Missense_Mutation_p.E645K|TLR10_uc003gti.3_Missense_Mutation_p.E659K|TLR10_uc021xnl.1_Missense_Mutation_p.E659K|TLR10_uc003gtk.3_Missense_Mutation_p.E659K|TLR10_uc021xnm.1_Missense_Mutation_p.E659K	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	659	TIR.				MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GAACCATCTTCCTTCTCTAGA	0.368000														71			26		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110835594	110835594	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:110835594G>A	uc001vqw.4	-	26	2049	c.1927C>T	c.(1927-1929)Cct>Tct	p.P643S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	643	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGGTAAAGGAACAATTTTT	0.547000														29			6		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900372	151900372	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151900372G>A	uc022chj.1	-	0	429	c.429C>T	c.(427-429)ttC>ttT	p.F143F	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.F143F|MAGEA12_uc022chi.1_Silent_p.F143F|MAGEA12_uc004fgc.3_Silent_p.F143F|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	143	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGTCCTGGAAATTTCTGA	0.507000														66			100		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317795	30317795	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:30317795C>T	uc009xle.2	-	2	1419	c.1282G>A	c.(1282-1284)Gat>Aat	p.D428N	KIAA1462_uc001iux.3_Missense_Mutation_p.D428N|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.D290N	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	428										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AACCGTGGATCATCAAAGGGA	0.507000														110			36		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91726016	91726016	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:91726016C>T	uc003ulg.3	+	40	9968	c.9743C>T	c.(9742-9744)tCa>tTa	p.S3248L	AKAP9_uc003ulf.3_Missense_Mutation_p.S3240L|AKAP9_uc003uli.3_Missense_Mutation_p.S2871L|AKAP9_uc003ulj.3_Missense_Mutation_p.S1018L|AKAP9_uc003ull.3_Missense_Mutation_p.S144L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3252					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGAAGTTTTCACTTGAGAGT	0.383000			T	BRAF	papillary thyroid									24			52		0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25273813	25273813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:25273813C>T	uc001isg.1	-	4	781	c.616G>A	c.(616-618)Gag>Aag	p.E206K	ENKUR_uc001ish.1_Missense_Mutation_p.E144K	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	Homo sapiens enkurin, TRPC channel interacting protein (ENKUR), mRNA.	206						cilium|flagellum	SH3 domain binding|calmodulin binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TTATGCACCTCTTCCCAGTTC	0.393000														48			19		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21478756	21478757	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:21478756_21478757GG>AA	uc002kuq.3	+	44	5754_5755	c.5668_5669GG>AA	c.(5668-5670)ggc>AAc	p.G1890N	LAMA3_uc002kur.3_Missense_Mutation_p.G1890N|LAMA3_uc002kus.4_Missense_Mutation_p.G281N|LAMA3_uc002kut.4_Missense_Mutation_p.G281N	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1890	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAAATAGAAGGCCTGGAAAGA	0.347000														91			25		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228525070	228525070	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228525070G>A	uc009xez.1	+	65	16830	c.16786G>A	c.(16786-16788)Gat>Aat	p.D5596N	OBSCN_uc001hsn.3_Missense_Mutation_p.D5596N|OBSCN_uc001hsr.1_Missense_Mutation_p.D224N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5596					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAGGACGGCGATGCCCGAGG	0.642000														12			4		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124117716	124117716	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124117716G>A	uc003ehg.3	+	12	2465	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	KALRN_uc010hrv.1_Missense_Mutation_p.E780K|KALRN_uc003ehf.1_Missense_Mutation_p.E780K|KALRN_uc011bjy.1_Missense_Mutation_p.E780K|KALRN_uc003ehh.1_Missense_Mutation_p.E126K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	780					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTACACCATCGAGGTAGCAGG	0.592000														55			5		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886286	123886286	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123886286C>T	uc010sac.2	+	0	5	c.5C>T	c.(4-6)tCc>tTc	p.S2F		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAAGAAATGTCCAACGCCAGC	0.512000														100			17		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36150108	36150108	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:36150108G>A	uc003gsq.2	-	16	3257	c.2919C>T	c.(2917-2919)atC>atT	p.I973I		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	973	PH 3.				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						AGGGTAAGTAGATCTCAAAGA	0.328000														42			15		0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131186709	131186710	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:131186709_131186710GG>AA	uc003qch.2	-	16	2977_2978	c.2795_2796CC>TT	c.(2794-2796)tcc>tTT	p.S932F	EPB41L2_uc003qce.1_Missense_Mutation_p.S310F|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc010kfl.2_Missense_Mutation_p.S779F|EPB41L2_uc003qcg.1_Missense_Mutation_p.S674F|EPB41L2_uc003qci.3_Missense_Mutation_p.S779F|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_Missense_Mutation_p.S93F	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	932	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	p.S932F(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTGTTGACACGGACTCAGATGT	0.455000														48			20		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229530	3229530	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:3229530C>T	uc004crg.4	-	6	6871	c.6714G>A	c.(6712-6714)gtG>gtA	p.V2238V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2238	Ig-like C2-type 6.					extracellular region				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)				GTTTCATCACCACATCCACTT	0.527000														34			39		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90500456	90500456	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90500456G>A	uc004app.4	+	3	1089	c.1054G>A	c.(1054-1056)Ggt>Agt	p.G352S	FAM75E1_uc004apo.1_Missense_Mutation_p.G164S	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	352						integral to membrane											CATGGAGGTAGGTGGCTGCAC	0.562000														39			23		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221482	59221482	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:59221482G>A	uc010dps.1	+	10	2112	c.1960G>A	c.(1960-1962)Gac>Aac	p.D654N	CDH20_uc002lif.2_Missense_Mutation_p.D648N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	654					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)				CATCATCGACGACGAGGAAAA	0.577000														147			47		0	0	1	0	0
OR7A17	26333	broad.mit.edu	37	19	14991526	14991526	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:14991526G>A	uc010xob.2	-	0	642	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_030901	NP_112163	O14581	OR7AH_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AAGAGCAAAGGATCCCCACAA	0.488000														124			44		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62887153	62887153	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:62887153G>A	uc003peg.2	-	1	403	c.156C>T	c.(154-156)gtC>gtT	p.V52V		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGTTGCTGATGACATCAAGAT	0.328000														32			14		0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808752	77808752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:77808752G>A	uc002jxe.3	-	4	852	c.689C>T	c.(688-690)cCc>cTc	p.P230L		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	230	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CATTCCGTTGGGGGGGCCCTT	0.642000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		118			46		0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459677	92459677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:92459677C>T	uc002bqx.2	+	1	836	c.635C>T	c.(634-636)tCg>tTg	p.S212L	SLCO3A1_uc002bqy.2_Missense_Mutation_p.S212L|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.S154L	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	212					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			AAGGACTCCTCGCTCTATATA	0.587000														22			3		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29598859	29598859	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29598859G>A	uc001usl.4	+	0	112	c.54G>A	c.(52-54)aaG>aaA	p.K18K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	8						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGGCTCCTAAGAAATCATGTT	0.448000														90			22		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33584242	33584242	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33584242G>A	uc002xbi.2	+	28	3480	c.3163G>A	c.(3163-3165)Gcc>Acc	p.A1055T		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1013						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCACCAACAGGCCCTGGGTGA	0.657000														17			18		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175409	51175409	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:51175409G>A	uc021tif.1	-	1	755	c.433C>T	c.(433-435)Cac>Tac	p.H145Y	SALL1_uc021tid.1_Missense_Mutation_p.H145Y|SALL1_uc021tie.1_Missense_Mutation_p.H242Y|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	242					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCAGCTGGTGGATCTGCTGC	0.547000														121			25		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83023654	83023654	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:83023654C>T	uc003uhy.2	-	13	2080	c.1459_splice	c.e13-1	p.D487_splice	SEMA3E_uc022agy.1_Splice_Site_p.D427_splice	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	487	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.D487Y(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GGAACTGGATCCTGAAATTTT	0.318000														38			16		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141709478	141709478	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141709478G>A	uc002tvj.1	-	18	3891	c.2919C>T	c.(2917-2919)ttC>ttT	p.F973F	LRP1B_uc010fnl.1_Silent_p.F155F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	973	LDL-receptor class A 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTGCATACGAATTGGGTTA	0.418000										TSP Lung(27;0.18)				52			19		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120572392	120572392	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:120572392G>A	uc001txo.3	-	51	7160	c.7147C>T	c.(7147-7149)Ccc>Tcc	p.P2383S		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2383					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGAAGAGGGGGTCCACCTTA	0.627000														49			27		0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132432006	132432006	+	Missense_Mutation	SNP	G	A	A	rs146250226	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:132432006G>A	uc003epe.2	-	5	1186	c.1082C>T	c.(1081-1083)tCt>tTt	p.S361F	NPHP3_uc003epf.2_Missense_Mutation_p.S116F	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	361					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AATAACTAAAGAACTTTTCTC	0.279000														23			23		0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30133195	30133195	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30133195G>A	uc002dws.3	-	1	403	c.303C>T	c.(301-303)atC>atT	p.I101I	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_5'UTR|MAPK3_uc002dwv.4_Silent_p.I101I|MAPK3_uc002dwt.3_Silent_p.I101I	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	101	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding 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|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	CTCGGATGCCGATGACATTCT	0.602000														16			14		0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39817998	39817998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:39817998C>T	uc001wvi.4	+	22	2416	c.2080C>T	c.(2080-2082)Cct>Tct	p.P694S	CTAGE5_uc001wuy.4_Missense_Mutation_p.P609S|CTAGE5_uc001wuz.4_Missense_Mutation_p.P677S|CTAGE5_uc001wva.4_Missense_Mutation_p.P660S|CTAGE5_uc001wvb.4_Missense_Mutation_p.P617S|CTAGE5_uc001wvc.4_Missense_Mutation_p.P591S|CTAGE5_uc001wvf.4_Missense_Mutation_p.P614S|CTAGE5_uc001wvg.4_Missense_Mutation_p.P689S|CTAGE5_uc001wvh.4_Missense_Mutation_p.P646S|CTAGE5_uc010amz.3_Missense_Mutation_p.P305S|CTAGE5_uc001wvj.4_Missense_Mutation_p.P660S	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	689	Pro-rich.						enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AGCCACTGGCCCTGGCTTTGT	0.463000														360			47		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41055511	41055511	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:41055511C>T	uc004dfb.3	+	26	4618	c.3985C>T	c.(3985-3987)Cgt>Tgt	p.R1329C	USP9X_uc004dfc.3_Missense_Mutation_p.R1329C	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1329					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						CAGAACTGTTCGTCAGGTGGC	0.398000														39			52		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128651888	128651888	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:128651888G>A	uc010sbu.2	+	4	968	c.625G>A	c.(625-627)Gac>Aac	p.D209N	FLI1_uc010sbt.2_Missense_Mutation_p.D16N|FLI1_uc010sbv.2_Missense_Mutation_p.D176N|FLI1_uc009zci.3_Missense_Mutation_p.D143N	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	209					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CTCCCACACCGACCAATCCTC	0.413000			T	EWSR1	Ewing sarcoma									89			34		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39884993	39884993	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:39884993G>A	uc001zkh.3	+	16	2936	c.2757G>A	c.(2755-2757)aaG>aaA	p.K919K	THBS1_uc010bbi.3_Silent_p.K391K	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	919					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CCGACCAGAAGGACTCTGACG	0.502000														39			7		0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402960	248402960	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248402960C>T	uc010pzh.2	+	0	730	c.730C>T	c.(730-732)Cac>Tac	p.H244Y		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			CTGCTCCTCCCACCTGTCTGT	0.517000														64			16		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760756	92760756	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92760756C>T	uc003umh.1	-	4	5745	c.4529G>A	c.(4528-4530)gGg>gAg	p.G1510E	SAMD9L_uc003umj.1_Missense_Mutation_p.G1510E|SAMD9L_uc003umi.1_Missense_Mutation_p.G1510E|SAMD9L_uc010lfb.1_Missense_Mutation_p.G1510E|SAMD9L_uc003umk.1_Missense_Mutation_p.G1510E|SAMD9L_uc010lfc.1_Missense_Mutation_p.G1510E|SAMD9L_uc010lfd.1_Missense_Mutation_p.G1510E|SAMD9L_uc022ahh.1_Missense_Mutation_p.G1510E	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1510										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCACACATCCCCACTGTGCCA	0.418000														85			41		0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78758726	78758726	+	Missense_Mutation	SNP	G	A	A	rs143720317		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:78758726G>A	uc002bdr.2	+	4	686	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.3_Missense_Mutation_p.R175Q	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	175							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		ACTACCTGCCGAGGATCTTGT	0.498000														60			46		0	0	1	0	0
SAMD12	401474	broad.mit.edu	37	8	119391794	119391794	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:119391794G>A	uc003yom.2	-	3	597	c.468C>T	c.(466-468)acC>acT	p.T156T	SAMD12_uc010mda.1_Intron|SAMD12_uc010mdb.1_Intron	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	156										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			GAAGCAATAGGGTACCTTGTG	0.473000														62			17		0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44015303	44015303	+	Silent	SNP	C	T	T	rs61732298		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:44015303C>T	uc002lcb.1	+	2	480	c.429C>T	c.(427-429)ttC>ttT	p.F143F	RNF165_uc002lby.1_Silent_p.F76F|RNF165_uc010dnn.1_Intron	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	143							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		ATCCCAGCTTCGACTTCGGCC	0.642000														57			17		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17668880	17668880	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17668880G>A	uc001baj.2	+	7	946	c.918G>A	c.(916-918)caG>caA	p.Q306Q	PADI4_uc009vpc.2_Silent_p.Q306Q	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	306					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGCCCCCGCAGGAGGTGTACG	0.642000														43			15		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181701992	181701992	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181701992C>T	uc009wxt.3	+	19	2965	c.2770C>T	c.(2770-2772)Cgc>Tgc	p.R924C	CACNA1E_uc001gow.3_Missense_Mutation_p.R924C|CACNA1E_uc009wxs.3_Missense_Mutation_p.R905C|CACNA1E_uc001gox.1_Missense_Mutation_p.R150C	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	924					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						CAGCCGGCATCGCCGCGTCAG	0.647000														116			34		0	0	1	0	0
TBCCD1	55171	broad.mit.edu	37	3	186274254	186274254	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:186274254G>A	uc003fqg.3	-	3	932	c.803C>T	c.(802-804)cCa>cTa	p.P268L	TBCCD1_uc011bry.2_Missense_Mutation_p.P268L|TBCCD1_uc003fqh.3_Missense_Mutation_p.P172L	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.	268					cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TGTACCAAATGGATTCCCAGT	0.388000														61			31		0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502456	91502456	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:91502456G>A	uc001tbm.3	-	1	690	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	101				L -> V (in Ref. 1; AAA85268).	collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTTTCTAGAAGGTTGTGATCT	0.388000														54			23		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40357749	40357749	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40357749G>A	uc002omp.4	-	33	15572	c.15564C>T	c.(15562-15564)tcC>tcT	p.S5188S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5188	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGTCAGCAGGGAGGAGTTTA	0.572000														28			16		0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47777887	47777887	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:47777887C>T	uc002lee.2	-	3	832	c.741G>A	c.(739-741)gcG>gcA	p.A247A		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	247										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GCAGCTGTGTCGCCTGCCTTT	0.557000														66			28		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130797667	130797667	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:130797667G>A	uc003kvn.2	-	18	2801	c.2595C>T	c.(2593-2595)gcC>gcT	p.A865A	RAPGEF6_uc003kvp.2_Silent_p.A915A|RAPGEF6_uc003kvo.2_Silent_p.A870A|RAPGEF6_uc010jdi.2_Silent_p.A865A|RAPGEF6_uc010jdj.2_Silent_p.A865A|RAPGEF6_uc003kvq.3_Silent_p.A582A|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Silent_p.A865A	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	865	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ACAGCTGGGTGGCCACCTCAA	0.403000														76			30		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509476	71509476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71509476G>A	uc011caw.1	+	8	2614	c.2333G>A	c.(2332-2334)aGa>aAa	p.R778K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	778					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAGAGAGAAAGAAGGCCGTAT	0.473000														72			25		0	0	1	0	0
SPDYE5	442590	broad.mit.edu	37	7	75130905	75130905	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:75130905G>A	uc011kfy.2	+	5	916	c.780G>A	c.(778-780)agG>agA	p.R260R	DQ601342_uc022agh.1_5'Flank	NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA.	260	Arg-rich.																CGAGGGCCAGGAAGAACCGCT	0.592000														281			97		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168112740	168112740	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:168112740C>T	uc010jjg.3	-	30	3948	c.3528G>A	c.(3526-3528)gtG>gtA	p.V1176V	SLIT3_uc003mab.3_Silent_p.V1169V	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1169	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGCCAGTTCCACGTAGGAGT	0.642000														58			22		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909307	123909307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123909307C>T	uc001pzq.1	-	0	402	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCCCAGTCATCATGTTGGTGT	0.542000														206			67		0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634297	180634297	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:180634297C>T	uc002unn.4	-	2	790	c.186G>A	c.(184-186)gtG>gtA	p.V62V		NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	62						nucleus	nucleic acid binding|zinc ion binding	p.R61*(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TCAGCTGCTTCACTCGTTTGC	0.597000														43			22		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58111348	58111348	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58111348C>T	uc003djj.2	+	22	4104	c.3939C>T	c.(3937-3939)atC>atT	p.I1313I	FLNB_uc010hne.2_Silent_p.I1313I|FLNB_uc003djk.2_Silent_p.I1313I|FLNB_uc010hnf.2_Silent_p.I1313I|FLNB_uc003djl.2_Silent_p.I1144I|FLNB_uc003djm.2_Silent_p.I1144I	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1313	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACGTGCCTATCCCAAACAGTC	0.473000														85			38		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235969221	235969221	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:235969221G>A	uc001hxj.2	-	5	3390	c.3215C>T	c.(3214-3216)tCc>tTc	p.S1072F	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.S1072F	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1072					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CACATTTATGGAAGAAATATG	0.383000														65			43		0	0	1	0	0
PGM5P2	595135	broad.mit.edu	37	9	69113627	69113627	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:69113627C>T	uc004aff.4	-	4		c.1027G>A								Homo sapiens phosphoglucomutase 5 pseudogene 2 (PGM5P2), non-coding RNA.																		CCATATTCTCCTCCTTTCATT	0.458000														60			6		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18729931	18729932	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:18729931_18729932CC>TT	uc003wza.3	-	2	545_546	c.442_443GG>AA	c.(442-444)gga>AAa	p.G148K		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	148					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTGTAATGTTCCGGAAATGATT	0.455000														154			21		0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151230975	151230975	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:151230975G>A	uc003lut.3	-	6	1175	c.888C>T	c.(886-888)tcC>tcT	p.S296S	GLRA1_uc003lur.3_Silent_p.S296S|GLRA1_uc003lus.3_Silent_p.S213S	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	296					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTCGAGAGCCGGAGCTCTGGG	0.542000														44			21		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111398117	111398117	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:111398117G>A	uc003iab.4	+	0	889	c.547G>A	c.(547-549)Gat>Aat	p.D183N		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	183					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CAGCAGTGGAGATGGCCTGTA	0.572000														93			40		0	0	1	0	0
SLC39A3	29985	broad.mit.edu	37	19	2733206	2733206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:2733206G>A	uc010xgy.1	-	2	742	c.488C>T	c.(487-489)tCg>tTg	p.S163L	SLC39A3_uc002lwg.3_Missense_Mutation_p.S163L	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA.	163						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		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)		GCTGGCGCGCGAGAGGCCCTG	0.731000														35			15		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87556463	87556463	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:87556463G>A	uc003hpz.3	+	1	534	c.54G>A	c.(52-54)gaG>gaA	p.E18E	PTPN13_uc003hpy.3_Silent_p.E18E|PTPN13_uc003hqa.3_Silent_p.E18E|PTPN13_uc003hqb.3_Silent_p.E18E	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	18	KIND.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CACTTCAGGAGGAAGAAATAT	0.453000														9			6		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80623121	80623121	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:80623121C>T	uc001szd.3	+	6	553	c.547C>T	c.(547-549)Cga>Tga	p.R183*		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGAGGAAATTCGAATTTATGG	0.348000														46			24		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965699	35965699	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35965699G>A	uc003jjv.2	-	3	825	c.632C>T	c.(631-633)tCc>tTc	p.S211F	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.S211F|UGT3A1_uc011cor.2_Missense_Mutation_p.S177F|UGT3A1_uc003jjy.2_Missense_Mutation_p.S157F	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	211						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGGCTCCTGGAGAAACTAAA	0.463000														79			45		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69949067	69949067	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:69949067C>T	uc010kak.3	+	18	3039	c.2763C>T	c.(2761-2763)atC>atT	p.I921I	BAI3_uc003pev.4_Silent_p.I921I|BAI3_uc011dxx.2_Silent_p.I127I	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	921					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCCTGTCTATCATCTCATCCA	0.353000														97			48		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43971011	43971011	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:43971011T>C	uc010yny.2	+	22	3521	c.3438T>C	c.(3436-3438)ttT>ttC	p.F1146F		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	1146	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding	p.E1145*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGGAAGAATTTTTGAATACTT	0.388000														79			19		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897995	175897995	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:175897995G>A	uc003iuc.3	+	4	1989	c.1319G>A	c.(1318-1320)gGg>gAg	p.G440E	ADAM29_uc003iud.3_Missense_Mutation_p.G440E|ADAM29_uc010irr.3_Missense_Mutation_p.G440E|ADAM29_uc011cki.2_Missense_Mutation_p.G440E|ADAM29_uc021xuo.1_Missense_Mutation_p.G440E	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	440	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTGCTTTTGGGCTTTGTTGC	0.448000														83			16		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3265441	3265441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:3265441C>T	uc022aqr.1	-	13	2441	c.2051G>A	c.(2050-2052)gGg>gAg	p.G684E	CSMD1_uc011kwj.2_Missense_Mutation_p.G77E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	685	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GATGTTGAACCCTCTGCCAGT	0.448000														11			5		0	0	1	0	0
SERINC2	347735	broad.mit.edu	37	1	31896549	31896549	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:31896549C>T	uc021okm.1	+	2	349	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	SERINC2_uc010ogg.2_Missense_Mutation_p.L21F|SERINC2_uc009vtw.1_Missense_Mutation_p.L17F|SERINC2_uc001bst.3_Missense_Mutation_p.L17F|SERINC2_uc001bsu.3_5'UTR|SERINC2_uc010ogh.2_Missense_Mutation_p.L21F	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	17						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GGCGTCCTGCCTCTGCGGCTC	0.672000														44			5		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6174883	6174883	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:6174883G>A	uc003mwv.3	-	11	1800	c.1677C>T	c.(1675-1677)acC>acT	p.T559T	F13A1_uc011dib.2_Silent_p.T496T	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	559					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CGGTGTAGAAGGTGATGTTGG	0.502000														151			20		0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407740	1407740	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:1407740C>T	uc010nct.2	+	6	754	c.432C>T	c.(430-432)gcC>gcT	p.A144A	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.A144A|CSF2RA_uc004cpq.2_Silent_p.A144A|CSF2RA_uc004cpn.2_Silent_p.A144A|CSF2RA_uc004cpo.2_Silent_p.A144A|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Silent_p.A11A|CSF2RA_uc004cpp.2_Silent_p.A144A|CSF2RA_uc010ncv.2_Silent_p.A144A|CSF2RA_uc004cpr.2_Silent_p.A144A	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	144						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTCCGACGGCCCCCCGTGACG	0.473000														152			31		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228467761	228467761	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228467761C>T	uc009xez.1	+	27	7680	c.7636C>T	c.(7636-7638)Cac>Tac	p.H2546Y	OBSCN_uc001hsn.3_Missense_Mutation_p.H2546Y|OBSCN_uc001hsp.1_Missense_Mutation_p.H245Y|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2546	Ig-like 24.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGCAGTGCCCACAGCAGCAC	0.617000														13			5		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116930445	116930446	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116930445_116930446CC>TT	uc011lxl.2	+	2	610_611	c.610_611CC>TT	c.(610-612)ccg>TTg	p.P204L	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Missense_Mutation_p.P54L	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	204	Laminin G-like.|TSP N-terminal.				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						GAAGATGAACCCGCATGCAGTC	0.599000														50			20		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63674401	63674401	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:63674401C>T	uc011kdn.2	+	2	177	c.177C>T	c.(175-177)gtC>gtT	p.V59V		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										GTATGACTGTCTCTAAGCCAG	0.388000														55			20		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13870993	13870993	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13870993G>A	uc003jfd.2	-	23	3759	c.3717C>T	c.(3715-3717)ttC>ttT	p.F1239F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1239	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)					GTTTCTTATTGAATTCTTCAA	0.398000									Kartagener syndrome					79			29		0	0	1	0	0
RNF169	254225	broad.mit.edu	37	11	74500681	74500681	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:74500681C>T	uc001ovl.4	+	1	526	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	Homo sapiens ring finger protein 169 (RNF169), mRNA.	171							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ACTTTATATTCAGAGCACCAA	0.343000														137			11		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140265500	140265500	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:140265500G>A	uc003etn.3	+	9	1841	c.1651G>A	c.(1651-1653)Gaa>Aaa	p.E551K	CLSTN2_uc003etm.2_Missense_Mutation_p.E551K	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	551					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TAATTCCTTGGAAAGCCTTGG	0.557000										HNSCC(16;0.037)				21			11		0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71360216	71360216	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:71360216G>A	uc011mqa.2	+	5	2818	c.2818G>A	c.(2818-2820)Gag>Aag	p.E940K	NHSL2_uc004eak.1_Missense_Mutation_p.E574K|NHSL2_uc010nli.2_Missense_Mutation_p.E709K	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	940										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					AAGCCCAGGGGAGTCAACAGC	0.542000														12			18		0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97851545	97851545	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:97851545G>A	uc011bgt.2	+	0	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M1T(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TGAGGACATGGAAGAGGAAAA	0.398000														147			62		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108117798	108117798	+	Missense_Mutation	SNP	C	T	T	rs138398778		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:108117798C>T	uc001pkb.1	+	7	1394	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ATM_uc009yxr.1_Missense_Mutation_p.R337C	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).		DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.R337C(6)|p.R337S(4)|p.F336_A340del(2)|p.R337H(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTCAGGATTTCGTAATATTGC	0.323000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				51			16		0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997547	46997547	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46997547C>T	uc002pes.2	-	0	1623	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	392										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CGCGGCCCGCCTCTTCCACCT	0.672000														30			6		0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52825349	52825349	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52825349C>T	uc010ydl.2	+	4	916	c.846C>T	c.(844-846)acC>acT	p.T282T	ZNF480_uc002pyv.3_Silent_p.T205T|ZNF480_uc010ydm.2_Silent_p.T239T|ZNF480_uc010epn.3_Silent_p.T113T|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GAATTCATACCAGAGAGAAGC	0.348000														44			14		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22616535	22616535	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22616535C>T	uc001wdg.1	+	0	230	c.23C>T	c.(22-24)tCc>tTc	p.S8F	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_uc010ajk.2_Silent_p.L92L|TCRA_uc021rpt.1_Missense_Mutation_p.S8F					RecName: Full=T-cell receptor alpha chain C region;																		ACAGTTCTCTCCACATCACTG	0.542000														60			23		0	0	1	0	0
SH3BGRL3	83442	broad.mit.edu	37	1	26607282	26607282	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26607282C>T	uc001blu.3	+	1	509	c.75C>T	c.(73-75)acC>acT	p.T25T		NM_031286	NP_112576	Q9H299	SH3L3_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein like 3 (SH3BGRL3), mRNA.	25	Glutaredoxin.				cell redox homeostasis	cytoplasm|nucleus	electron carrier activity|protein disulfide oxidoreductase activity						all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649)		GCGAGGTGACCCGAATCCTGG	0.587000														82			14		0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607929	68607929	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:68607929C>T	uc002sen.4	+	2	435	c.273C>T	c.(271-273)gcC>gcT	p.A91A	PLEK_uc010fde.3_Silent_p.A91A	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	91	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGAGAGATGCCTGGGTTCGGG	0.468000														143			68		0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273455	125273455	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125273455C>T	uc011lyv.2	+	0	375	c.375C>T	c.(373-375)gcC>gcT	p.A125A	OR1J2_uc004bmj.2_Silent_p.A125A	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GATATGTTGCCATATGTCACC	0.423000														84			19		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57430138	57430138	+	Missense_Mutation	SNP	G	A	A	rs143613424	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57430138G>A	uc001smw.4	-	21	2542	c.2302C>T	c.(2302-2304)Cgg>Tgg	p.R768W	MYO1A_uc010sqz.2_Missense_Mutation_p.R606W|MYO1A_uc009zpd.3_Missense_Mutation_p.R768W	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	768	IQ 3.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GCCTCTGACCGGAAATATTTG	0.468000														154			49		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38639232	38639232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38639232C>T	uc021wvo.1	-	12	2302	c.2250G>A	c.(2248-2250)caG>caA	p.Q750Q	SCN5A_uc021wvk.1_Silent_p.Q750Q|SCN5A_uc021wvl.1_Silent_p.Q750Q|SCN5A_uc021wvm.1_Silent_p.Q750Q|SCN5A_uc021wvn.1_Silent_p.Q750Q|SCN5A_uc021wvp.1_Silent_p.Q750Q|SCN5A_uc021wvq.1_Silent_p.Q750Q|SCN5A_uc021wvr.1_Silent_p.Q750Q|SCN5A_uc021wvs.1_Silent_p.Q750Q|SCN5A_uc021wvt.1_Silent_p.Q750Q|SCN5A_uc021wvu.1_Silent_p.Q750Q|SCN5A_uc021wvv.1_Silent_p.Q750Q|SCN5A_uc021wvj.1_Silent_p.Q616Q|SCN5A_uc021wvi.1_Silent_p.Q616Q|SCN5A_uc021wvw.1_Silent_p.Q361Q	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	750					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGTTTCCGACCTGCAGCATCT	0.552000														46			13		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38743485	38743485	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38743485C>T	uc003ciq.3	-	25	4502	c.4502G>A	c.(4501-4503)aGt>aAt	p.S1501N		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1501					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTTTTCTTCACTTTGGTCATC	0.448000														70			30		0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6477836	6477836	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6477836G>A	uc001mdh.3	-	6	1516	c.1120C>T	c.(1120-1122)Ctt>Ttt	p.L374F	TRIM3_uc001mdi.3_Missense_Mutation_p.L374F|TRIM3_uc010raj.2_Missense_Mutation_p.L255F|TRIM3_uc009yfd.3_Missense_Mutation_p.L374F|TRIM3_uc010rak.1_Missense_Mutation_p.L374F|TRIM3_uc001mdj.2_Missense_Mutation_p.L255F	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	374					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCACCGGAAGGCGCGTGCCG	0.632000														41			13		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92428405	92428405	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:92428405C>A	uc001dol.4	+	2	512	c.94C>A	c.(94-96)Ctt>Att	p.L32I	BRDT_uc010osz.2_Missense_Mutation_p.L32I|BRDT_uc001dok.4_Missense_Mutation_p.L32I|BRDT_uc009wdf.3_Intron|BRDT_uc010otb.2_Missense_Mutation_p.L32I|BRDT_uc010ota.2_Missense_Mutation_p.L32I|BRDT_uc001dom.4_Missense_Mutation_p.L32I	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GACAAATCAACTTCAGTATCT	0.383000														176			18		3.52763e-06	3.53398e-06	1	1	0
REPIN1	29803	broad.mit.edu	37	7	150069302	150069302	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150069302C>T	uc022apt.1	-	0	732	c.364G>A	c.(364-366)Ggc>Agc	p.G122S	REPIN1_uc003whd.2_Silent_p.A313A|REPIN1_uc010lpq.1_Silent_p.A324A|REPIN1_uc010lpr.1_Silent_p.A381A|REPIN1_uc003whc.2_Silent_p.A324A|REPIN1_uc003whe.2_Silent_p.A324A			Q9BWE0	REPI1_HUMAN	Homo sapiens mRNA; cDNA DKFZp762K135 (from clone DKFZp762K135).	229					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCCAGGCCGCCCCCGGCCCGG	0.731000														9			4		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14868871	14868871	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14868871C>T	uc003zlm.3	-	2	921	c.105G>A	c.(103-105)atG>atA	p.M35I	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	35					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGTGGCCCTTCATCACCCTCA	0.562000														11			7		0	0	1	0	0
PCDHB18	54660	broad.mit.edu	37	5	140615792	140615792	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140615792G>A	uc003ljc.1	+	0	1855	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GGACGCCAACGACAACTCGCC	0.711000														64			34		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37328890	37328890	+	Missense_Mutation	SNP	G	A	A	rs146404001	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37328890G>A	uc003aqa.4	+	8	1313	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	CSF2RB_uc003aqc.4_Missense_Mutation_p.E372K	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	366	Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AATGCGATACGAACACATAGA	0.567000														32			9		0	0	1	0	0
RRH	10692	broad.mit.edu	37	4	110763652	110763652	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:110763652C>T	uc003hzv.3	+	5	782	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L		NM_006583	NP_006574	O14718	OPSX_HUMAN	Homo sapiens retinal pigment epithelium-derived rhodopsin homolog (RRH), mRNA.	250					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		CTGCATGTTTCTGGTGGCATG	0.398000														135			39		0	0	1	0	0
ZNF77	58492	broad.mit.edu	37	19	2936611	2936611	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:2936611G>A	uc002lws.4	-	2	353	c.222C>T	c.(220-222)ttC>ttT	p.F74F		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	74	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTTCCTGTGAACTTTACAA	0.413000														61			33		0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110029765	110029765	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110029765C>T	uc001dxr.3	+	3	450	c.435C>T	c.(433-435)tcC>tcT	p.S145S	ATXN7L2_uc001dxs.3_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	145										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CGAAAACCTCCTCCAGGGAGA	0.622000														18			3		0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53556411	53556411	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:53556411G>A	uc021onn.1	-	7	1444	c.1276C>T	c.(1276-1278)Cgc>Tgc	p.R426C	SLC1A7_uc021onm.1_Missense_Mutation_p.R295C|SLC1A7_uc001cux.3_5'UTR|SLC1A7_uc001cuy.3_Missense_Mutation_p.R367C|SLC1A7_uc021ono.1_Intron	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	397						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.A425A(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	AGCACGAAGCGAGCGATGCGC	0.622000														26			15		0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37602816	37602816	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37602816C>T	uc003ara.3	-	1	1089	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R	SSTR3_uc003arb.3_Missense_Mutation_p.G343R|SSTR3_uc021wos.1_Missense_Mutation_p.G343R	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	343					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						TCCGGGGGCCCCACAGTGGGC	0.672000														66			18		0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134413	27134413	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:27134413C>T	uc003sye.3	-	2	747	c.653_splice	c.e2-1	p.G218_splice	HOXA1_uc003syd.3_Splice_Site|HOXA1_uc022aao.1_3'UTR|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	218						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTCCAACTTTCCCTGGGGCAA	0.493000														42			26		0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151153862	151153862	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:151153862C>T	uc003ilo.4	+	10	2253	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L	DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Missense_Mutation_p.S483L|DCLK2_uc003iln.4_Missense_Mutation_p.S482L	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	483	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	p.S500L(1)|p.S483L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCAATTACTTCGTCGACCAAG	0.448000														210			45		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419245	10419245	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10419245G>A	uc002gmo.3	-	4	597	c.503C>T	c.(502-504)aCt>aTt	p.T168I	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	168	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCACTCACCAGTCAGCATGAA	0.423000														92			73		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49169754	49169754	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49169754G>A	uc001rsh.4	-	7	2458	c.1798C>T	c.(1798-1800)Cgc>Tgc	p.R600C	ADCY6_uc001rsi.4_Missense_Mutation_p.R600C|ADCY6_uc001rsj.4_Missense_Mutation_p.R600C|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	600					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCATCTGGCGGAAGGCCTTG	0.607000														11			4		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228525721	228525721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228525721G>A	uc009xez.1	+	66	16921	c.16877G>A	c.(16876-16878)gGc>gAc	p.G5626D	OBSCN_uc001hsn.3_Missense_Mutation_p.G5626D|OBSCN_uc001hsr.1_Missense_Mutation_p.G254D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5626	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCGGGAAGGCCAGTATGTG	0.632000														12			9		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236755334	236755334	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:236755334G>A	uc001hyd.2	-	10	1533	c.1381C>T	c.(1381-1383)Cat>Tat	p.H461Y		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	461					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACAAACTGATGGAAAAGCTCT	0.353000														104			27		0	0	1	0	0
IGSF8	93185	broad.mit.edu	37	1	160062981	160062981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160062981G>A	uc001fva.3	-	3	1090	c.1045C>T	c.(1045-1047)Cct>Tct	p.P349S	IGSF8_uc001fuz.3_Missense_Mutation_p.P349S|IGSF8_uc009wtf.3_Missense_Mutation_p.P349S	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	349	Ig-like C2-type 3.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCCCCGCAGGTGCCATCTCC	0.662000														28			10		0	0	1	0	0
TWF1	5756	broad.mit.edu	37	12	44191132	44191132	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:44191132G>A	uc001roa.3	-	6	863	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	TWF1_uc001rnz.3_Missense_Mutation_p.H147Y|TWF1_uc001rob.3_Missense_Mutation_p.H252Y|TWF1_uc001roc.3_Missense_Mutation_p.H147Y	NM_002822	NP_002813	Q12792	TWF1_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 1 (Drosophila) (TWF1), transcript variant 2, mRNA.	245	ADF-H 2.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity	p.R278S(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TCTCCTTCATGGGAATGTTTA	0.333000														133			13		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234590866	234590866	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234590866G>A	uc002vut.3	+	0	283	c.283G>A	c.(283-285)Gat>Aat	p.D95N	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.D95N	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	102					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GGTTTTTGCCGATGCTCGCTG	0.433000														142			61		0	0	1	0	0
CRIP1	1396	broad.mit.edu	37	14	105954825	105954825	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105954825G>A	uc001yri.4	+	4	325	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	C14orf80_uc001yrj.3_5'Flank|C14orf80_uc001yrk.3_5'Flank|C14orf80_uc001yrn.3_5'Flank|C14orf80_uc001yro.3_5'Flank|C14orf80_uc001yrm.3_5'Flank	NM_001311	NP_001302	P50238	CRIP1_HUMAN	Homo sapiens cysteine-rich protein 1 (intestinal) (CRIP1), mRNA.	71					cell proliferation	cytoplasm	zinc ion binding						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		GCGGGGCGGAGCCGAGAGCCA	0.642000														71			21		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566348	45566348	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:45566348C>T	uc010dnv.3	-	2	1633	c.1197G>A	c.(1195-1197)ggG>ggA	p.G399G	ZBTB7C_uc002ldb.3_Silent_p.G377G|ZBTB7C_uc010dnu.3_Silent_p.G386G|ZBTB7C_uc010dnw.3_Silent_p.G377G|ZBTB7C_uc010dnx.1_Silent_p.G377G|ZBTB7C_uc010dny.1_Silent_p.G377G|ZBTB7C_uc010dnz.1_Silent_p.G399G|ZBTB7C_uc010doi.1_Silent_p.G377G|ZBTB7C_uc010doj.1_Silent_p.G386G|ZBTB7C_uc010dok.1_Silent_p.G426G|ZBTB7C_uc010dol.1_Silent_p.G386G|ZBTB7C_uc010doa.1_Silent_p.G399G|ZBTB7C_uc010dob.1_Silent_p.G377G|ZBTB7C_uc010doc.1_Silent_p.G386G|ZBTB7C_uc010dod.1_Silent_p.G399G|ZBTB7C_uc010doe.1_Silent_p.G377G|ZBTB7C_uc010dof.1_Silent_p.G377G|ZBTB7C_uc010dog.1_Silent_p.G377G|ZBTB7C_uc010doh.1_Silent_p.G386G|ZBTB7C_uc010dom.1_Silent_p.G386G|ZBTB7C_uc010don.1_Silent_p.G385G|ZBTB7C_uc010dop.1_Silent_p.G377G|ZBTB7C_uc010doq.1_Silent_p.G386G|ZBTB7C_uc010dor.1_Silent_p.G399G|ZBTB7C_uc010dos.1_Silent_p.G377G|ZBTB7C_uc010dot.1_Silent_p.G377G|ZBTB7C_uc010doo.1_Silent_p.G377G|ZBTB7C_uc010dou.1_Silent_p.G386G	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	377						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCGGCAGCTTCCCGGCCCCCA	0.642000														86			39		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160783618	160783618	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160783618C>T	uc001fwu.3	+	2	697	c.647C>T	c.(646-648)cCa>cTa	p.P216L	LY9_uc010pjs.1_Missense_Mutation_p.P216L|LY9_uc001fwv.3_Missense_Mutation_p.P216L|LY9_uc001fww.3_Missense_Mutation_p.P216L|LY9_uc001fwy.1_Missense_Mutation_p.P118L|LY9_uc001fwz.3_5'Flank	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	216	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCATGTGACCCAGACCTGCCA	0.552000														230			65		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653509	46653509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:46653509C>T	uc003bhh.3	-	0	5711	c.5711G>A	c.(5710-5712)aGc>aAc	p.S1904N		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1904					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CAGCCAATTGCTTTCTTGAAG	0.398000														89			34		0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161514664	161514664	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161514664G>A	uc001gar.3	-	3	696	c.512C>T	c.(511-513)gCt>gTt	p.A171V	FCGR3A_uc001gas.3_Missense_Mutation_p.A170V|FCGR3A_uc001gat.4_Missense_Mutation_p.A135V|FCGR3A_uc009wuh.3_Missense_Mutation_p.A134V|FCGR3A_uc009wui.3_Missense_Mutation_p.A135V	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	135	Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		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)	CTTATGCAGAGCAGTGTTCTT	0.483000														52			16		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331568	70331568	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70331568C>T	uc001oqc.3	-	20	4744	c.4632G>A	c.(4630-4632)gaG>gaA	p.E1544E	SHANK2_uc010rqn.2_Silent_p.E1020E|SHANK2_uc001opz.3_Silent_p.E1015E|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1231					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGCTTTTGATCTCTGTGACGT	0.592000														121			22		0	0	1	0	0
NAA60	79903	broad.mit.edu	37	16	3533403	3533403	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3533403C>T	uc002cvh.4	+	5	624	c.378C>T	c.(376-378)acC>acT	p.T126T	NAA60_uc010uxb.1_Silent_p.T133T|NAA60_uc010btk.1_Silent_p.T61T|NAA60_uc010btl.3_Intron|NAA60_uc021tcf.1_Silent_p.T126T|NAA60_uc010btm.3_Silent_p.T126T|NAA60_uc010uxd.2_Intron|NAA60_uc010uxe.2_Intron|NAA60_uc002cvg.2_Silent_p.T126T	NM_001083601	NP_079121	Q9H7X0	NAT15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 60, NatF catalytic subunit (NAA60), transcript variant 1, mRNA.	126	N-acetyltransferase.						N-acetyltransferase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						ACATATCAACCACCGCCCAGG	0.468000														18			8		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22902738	22902738	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22902738C>T	uc001bfx.1	+	2	313	c.188C>T	c.(187-189)tCc>tTc	p.S63F	EPHA8_uc001bfw.3_Missense_Mutation_p.S63F	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	63						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTGGACGAGTCCTTCCAGCCC	0.612000														128			46		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997289	19997289	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:19997289C>T	uc002ktv.1	-	0	590	c.486G>A	c.(484-486)atG>atA	p.M162I		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	162						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TCTTGAAGGTCATTTTGGCTT	0.378000														140			73		0	0	1	0	0
SIRT5	23408	broad.mit.edu	37	6	13601076	13601076	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:13601076C>T	uc003nay.3	+	8	1064	c.752C>T	c.(751-753)tCc>tTc	p.S251F	SIRT5_uc003naw.3_Missense_Mutation_p.S251F|SIRT5_uc003nax.3_Missense_Mutation_p.S143F|SIRT5_uc011dit.2_Missense_Mutation_p.S233F	NM_012241	NP_001229756	Q9NXA8	SIRT5_HUMAN	Homo sapiens sirtuin 5 (SIRT5), transcript variant 1, mRNA.	251	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	GTGGGCACTTCCTCTGTGGTG	0.537000														34			7		0	0	1	0	0
WNT3	7473	broad.mit.edu	37	17	44851147	44851147	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:44851147G>A	uc002ikv.2	-	1	328	c.209C>T	c.(208-210)gCc>gTc	p.A70V		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	70					Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CACGCCCTCGGCCACGCTGGG	0.647000														36			28		0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143054022	143054022	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143054022C>T	uc010lpa.3	-	6	848	c.704G>A	c.(703-705)aGc>aAc	p.S235N	FAM131B_uc010loz.3_Missense_Mutation_p.S175N|FAM131B_uc003wct.3_Missense_Mutation_p.S207N|FAM131B_uc003wcu.4_Missense_Mutation_p.S207N	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	207										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GGACTGATCGCTGGCTTCCCA	0.557000														56			14		0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810712	65810712	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65810712C>T	uc001ogv.3	-	1	722	c.562G>A	c.(562-564)Gag>Aag	p.E188K	GAL3ST3_uc001ogw.3_Missense_Mutation_p.E188K	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	188					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	p.P187T(1)		kidney(1)|lung(9)|ovary(2)|skin(2)	14						TAGTATGCCTCGGGCGCGCGC	0.677000														38			11		0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90355918	90355918	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:90355918G>A	uc003uky.2	+	2	383	c.161G>A	c.(160-162)gGa>gAa	p.G54E	CDK14_uc003ukt.1_Missense_Mutation_p.G8E|CDK14_uc003ukv.1_Missense_Mutation_p.G8E|CDK14_uc003uku.1_Missense_Mutation_p.G8E|CDK14_uc003ukx.1_Intron|CDK14_uc003ukz.1_Missense_Mutation_p.G36E|CDK14_uc010les.1_Missense_Mutation_p.G8E|CDK14_uc011khl.1_5'UTR	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	54					G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AACTGCCAGGGAATGGACTCA	0.408000														79			8		0	0	1	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179044567	179044567	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:179044567G>A	uc021yjd.1	-	7	1036	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	HNRNPH1_uc011dgn.2_Silent_p.F65F|HNRNPH1_uc003mkf.4_Silent_p.F335F|HNRNPH1_uc003mkg.4_Silent_p.F243F|HNRNPH1_uc003mke.4_Silent_p.F335F|HNRNPH1_uc003mkh.4_Silent_p.F335F	NM_005520	NP_005511	P31943	HNRH1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H1 (H) (HNRNPH1), mRNA.	335	2 X 16 AA Gly-rich approximate repeats.|RRM 3.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CATGAGTTGCGAACTCGACAT	0.438000														124			66		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74622633	74622633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74622633G>A	uc002axo.3	+	11	1788	c.1394G>A	c.(1393-1395)aGc>aAc	p.S465N	CCDC33_uc002axp.3_Missense_Mutation_p.S287N|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Missense_Mutation_p.S58N|CCDC33_uc002axr.3_Missense_Mutation_p.S58N	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	668							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ATACTGAGGAGCCGCCTGGCC	0.627000														25			4		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36759506	36759506	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36759506G>A	uc003cgi.2	-	3	2239	c.1748C>T	c.(1747-1749)tCt>tTt	p.S583F		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	583	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCACCATCAGAGATATTGTC	0.552000														134			64		0	0	1	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105331	60105331	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60105331G>A	uc001npd.3	+	1	279	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	89						integral to membrane	receptor activity	p.E89K(2)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TAAGTTGGACGAAAAGGATAT	0.453000														102			53		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440515	124440515	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124440515C>T	uc010san.2	+	0	551	c.551C>T	c.(550-552)cCc>cTc	p.P184L		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		TTAAAACTGCCCTATTGTGAG	0.483000														77			30		0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90286605	90286605	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90286605G>C	uc002boj.3	+	16	2145	c.2044G>C	c.(2044-2046)Gag>Cag	p.E682Q	WDR93_uc010bnr.3_Missense_Mutation_p.E654Q|WDR93_uc010upz.2_Missense_Mutation_p.E399Q	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	682					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GCTCCAGAGAGAGAACTTCAA	0.577000														81			15		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108156452	108156452	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108156452C>T	uc003dxa.1	-	25	3287	c.3230G>A	c.(3229-3231)aGt>aAt	p.S1077N		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1077						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						GTTCTCCATACTTTCCCGATT	0.483000														205			53		0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	76055823	76055823	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:76055823G>A	uc001vjl.1	-	0	428	c.81C>T	c.(79-81)ggC>ggT	p.G27G	TBC1D4_uc010aer.2_Silent_p.G27G|TBC1D4_uc010aes.2_Silent_p.G27G	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	27						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GCTTCCCGGGGCCGGGCTGAG	0.687000														19			6		0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1657262	1657262	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1657262G>A	uc002cmb.3	-	2	368	c.6C>T	c.(4-6)gcC>gcT	p.A2A		NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	2										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CATAATAGAGGGCCATGACGG	0.468000														80			27		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62423883	62423883	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:62423883G>A	uc003dll.2	-	27	4033	c.3673C>T	c.(3673-3675)Ccc>Tcc	p.P1225S	CADPS_uc003dlj.1_Missense_Mutation_p.P180S|CADPS_uc003dlk.1_Missense_Mutation_p.P673S|CADPS_uc003dlm.2_Missense_Mutation_p.P1186S|CADPS_uc003dln.2_Missense_Mutation_p.P1146S|CADPS_uc021wzv.1_Missense_Mutation_p.P1216S	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1225	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCCATCCCGGGTTTCTGTAAA	0.468000														45			18		0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78415084	78415084	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:78415084C>T	uc003kfu.4	+	2	274	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	BHMT_uc011cti.2_Intron	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	57	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)	TCTCCCAGTTCGCCAGCTTCA	0.438000														100			30		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41748899	41748899	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41748899G>A	uc010ehj.3	+	10	1614	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	AXL_uc010ehi.1_Missense_Mutation_p.R475Q|AXL_uc010ehk.3_Missense_Mutation_p.R466Q|TRNA_Pseudo_uc021uux.1_5'Flank	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	475						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTCCACCGGCGAAAGAAGGAG	0.607000														53			19		0	0	1	0	0
MFNG	4242	broad.mit.edu	37	22	37882141	37882141	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37882141C>T	uc003ass.2	-	0	338	c.75G>A	c.(73-75)cgG>cgA	p.R25R	MFNG_uc011anj.2_Silent_p.R25R|MFNG_uc011ani.2_5'UTR|CARD10_uc003ast.1_Intron	NM_002405	NP_002396	O00587	MFNG_HUMAN	Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA.	25					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					TCAAGTGGTACCGCAGACACA	0.667000														44			18		0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173883916	173883916	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:173883916C>T	uc001gjt.3	-	1	302	c.183G>A	c.(181-183)aaG>aaA	p.K61K		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	61					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	CCTCAGTTGCCTTCTTCTCCG	0.582000											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		166			65		0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145094856	145094856	+	Silent	SNP	C	T	T	rs60729674	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145094856C>T	uc011lkw.2	+	1	360	c.258C>T	c.(256-258)ctC>ctT	p.L86L	SPATC1_uc011lkx.2_Silent_p.L86L	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	86										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AACGAGTCCTCGAAGAAGTGG	0.642000														84			26		0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703507	55703507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55703507G>A	uc010ris.2	-	0	370	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCGACATAGCGATCATAGGCC	0.438000														69			20		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41160355	41160355	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41160355G>A	uc003jmk.2	-	10	1783	c.1573C>T	c.(1573-1575)Cca>Tca	p.P525S	C6_uc003jml.1_Missense_Mutation_p.P525S	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	525	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				TTAGGGCATGGAGCACACTGG	0.507000														126			45		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44676097	44676097	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44676097C>T	uc010zxl.1	+	14	1937	c.1861C>T	c.(1861-1863)Ctc>Ttc	p.L621F	SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.L598F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	621					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTCTAGGACCCTCTCCTTCCT	0.572000														108			38		0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477849	88477849	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:88477849G>A	uc021rxh.1	+	0	658	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	GPR65_uc001xvv.3_Missense_Mutation_p.E220K	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	220					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GGAAAACAAGGAAAAGAAGAG	0.428000														35			16		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76492029	76492029	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76492029C>T	uc010dhp.2	-	37	5956	c.5831G>A	c.(5830-5832)gGt>gAt	p.G1944D	AK127460_uc002jvt.1_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATGAAGATACCGACGGTGGG	0.527000														59			16		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450996	55450996	+	Silent	SNP	G	A	A	rs147899515		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55450996G>A	uc002qih.4	-	3	1267	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	NLRP7_uc010esk.3_Silent_p.F397F|NLRP7_uc002qig.4_Silent_p.F397F|NLRP7_uc002qii.4_Silent_p.F397F|NLRP7_uc010esl.3_Silent_p.F425F	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	397	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGCTGCAGAGGAAACGCAGGA	0.697000														22			12		0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	239990214	239990214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:239990214G>A	uc002vyk.4	-	22	3617	c.2825C>T	c.(2824-2826)cCt>cTt	p.P942L	HDAC4_uc010fyy.3_Missense_Mutation_p.P899L	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	942	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCCCCCAAGAGGGGTGGGGTG	0.597000														46			16		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46230641	46230641	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:46230641C>T	uc001ros.1	+	7	890	c.890C>T	c.(889-891)tCc>tTc	p.S297F	ARID2_uc001ror.3_Missense_Mutation_p.S297F|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	297					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGAAATCTTTCCTTTGAGGAG	0.398000			"""N, S, F"""		hepatocellular carcinoma									85			45		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27169583	27169583	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:27169583G>A	uc011lno.2	+	3	1026	c.584G>A	c.(583-585)gGa>gAa	p.G195E	TEK_uc010mjc.1_Missense_Mutation_p.G48E|TEK_uc011lnn.1_Missense_Mutation_p.G195E|TEK_uc003zqi.4_Missense_Mutation_p.G195E|TEK_uc011lnp.2_Missense_Mutation_p.G91E|TEK_uc003zqj.1_Missense_Mutation_p.G172E	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	195					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AGGTATATAGGAGGAAACCTC	0.507000														88			41		0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49395100	49395100	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:49395100G>A	uc021wxw.1	-	1	413	c.333C>T	c.(331-333)ctC>ctT	p.L111L	GPX1_uc021wxx.1_3'UTR	NM_000581	NP_000572	P07203	GPX1_HUMAN	Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA.	111					UV protection|anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion	cytosol|mitochondrion	SH3 domain binding|endopeptidase inhibitor activity|glutathione peroxidase activity			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	ACTTCTCGAAGAGCATGAAGT	0.617000														87			14		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817442	69817442	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69817442G>A	uc003hef.2	-	0	68	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	13						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGAGCTGCAGGAGCAGAAAT	0.468000														44			13		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62298879	62298879	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62298879G>A	uc001ntl.3	-	4	3310	c.3010C>T	c.(3010-3012)Ccc>Tcc	p.P1004S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1004					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTAAATTTGGGCATTTTAATC	0.468000														152			57		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130509543	130509543	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130509543G>A	uc004bsc.3	-	5	1289	c.1147C>T	c.(1147-1149)Ctg>Ttg	p.L383L	SH2D3C_uc010mxo.3_Silent_p.L223L|SH2D3C_uc004bry.3_Silent_p.L225L|SH2D3C_uc004brz.4_Silent_p.L29L|SH2D3C_uc011mak.2_Silent_p.L29L|SH2D3C_uc004bsb.3_Silent_p.L315L|SH2D3C_uc004bsa.3_Silent_p.L226L	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	383					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGCGGGGCAGCGACGTACTG	0.657000														23			8		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33991943	33991943	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:33991943C>T	uc001zhi.3	+	40	6358	c.6288C>T	c.(6286-6288)ttC>ttT	p.F2096F	RYR3_uc010bar.3_Silent_p.F2096F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2096	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2095C(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTGCCGTTTCCTTTGCTATT	0.438000														29			7		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2297749	2297749	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:2297749G>A	uc002wfx.4	+	5	802	c.705G>A	c.(703-705)ggG>ggA	p.G235G		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	235					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGCTTGCTGGGAATTGGAGCG	0.532000														110			31		0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436483	56436483	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:56436483C>T	uc003xsf.3	+	2	1682	c.1650C>T	c.(1648-1650)tcC>tcT	p.S550S		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	550						integral to membrane		p.S550T(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GGTCCATCTCCAACAACCGCA	0.592000														77			12		0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43585109	43585109	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43585109G>A	uc001zrf.1	-	2	242	c.237C>T	c.(235-237)ttC>ttT	p.F79F		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	79					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CCCGGGTGAGGAAGAATGTGG	0.527000														190			59		0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266308	3266308	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3266308G>A	uc010uwv.2	+	0	747	c.599G>A	c.(598-600)aGa>aAa	p.R200K						Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA.																		ACAAAGGGAAGATGGAAAGCC	0.527000														43			15		0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882677	68882677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:68882677C>T	uc010yqj.2	+	1	1311	c.1151C>T	c.(1150-1152)aCc>aTc	p.T384I	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	384						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.T384N(2)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATGCCTGCCACCGAAGAGGTG	0.483000														44			14		0	0	1	0	0
SLC2A2	6514	broad.mit.edu	37	3	170715801	170715801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:170715801C>T	uc003fhe.1	-	10	1775	c.1466G>A	c.(1465-1467)gGa>gAa	p.G489E	U1_uc021xhg.1_5'Flank|SLC2A2_uc003fhf.1_Missense_Mutation_p.G316E|SLC2A2_uc011bpu.1_Missense_Mutation_p.G362E	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	489					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	p.K488I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			AAAAGACTTTCCTTTGGTTTC	0.438000														133			8		0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17487897	17487897	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17487897G>A	uc002ngk.1	-	0	241	c.201C>T	c.(199-201)gcC>gcT	p.A67A		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	67						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATAGGCCCTCGGCTCGGCGCT	0.592000														38			11		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540021	94540021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94540021C>T	uc003unp.3	+	1	878	c.596C>T	c.(595-597)tCc>tTc	p.S199F	PPP1R9A_uc010lfj.3_Missense_Mutation_p.S199F|PPP1R9A_uc011kif.2_Missense_Mutation_p.S199F|PPP1R9A_uc003unq.3_Missense_Mutation_p.S199F|PPP1R9A_uc011kig.2_Missense_Mutation_p.S199F	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	199						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)			GAGGCTGTCTCCCCAACTGTG	0.502000										HNSCC(28;0.073)				44			17		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131466464	131466464	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:131466464G>A	uc010tbm.2	+	5	1001	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	GPR133_uc001uit.4_Missense_Mutation_p.E116K	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	116					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GACACAAGGAGAACAGTCTAG	0.502000														83			14		0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68810291	68810291	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:68810291G>A	uc003hdr.1	-	2	319	c.198C>T	c.(196-198)ttC>ttT	p.F66F	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Silent_p.F66F	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	66	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TGCTTTGTCCGAAATTGTTAT	0.333000														76			34		0	0	1	0	0
C17orf56	146705	broad.mit.edu	37	17	79203038	79203038	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:79203038G>A	uc002jzu.2	-	11	1326	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	C17orf56_uc002jzr.2_Missense_Mutation_p.S93F|C17orf56_uc002jzs.2_Missense_Mutation_p.S339F|C17orf56_uc002jzt.2_Missense_Mutation_p.S339F|C17orf56_uc002jzv.2_Missense_Mutation_p.S271F|AL832593_uc002jzw.1_Non-coding_Transcript	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	Homo sapiens chromosome 17 open reading frame 56 (C17orf56), mRNA.	423	Pro-rich.					integral to membrane				endometrium(1)|kidney(1)|lung(5)|prostate(1)|skin(3)	11	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGGAATGGGGGAGGCATCTGG	0.687000														8			8		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984756	85984756	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:85984756G>A	uc010qmc.2	-	1	233	c.225C>T	c.(223-225)ttC>ttT	p.F75F	LRIT2_uc001kcy.3_Silent_p.F75F	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	75						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TCATGTTGATGAAAGACCCTT	0.463000														114			13		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15734018	15734018	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15734018C>T	uc002nbi.3	+	7	812	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	CYP4F8_uc010xoj.2_Missense_Mutation_p.P63S	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	251					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CTTCCTCACTCCCTGTGGACG	0.562000														58			32		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176809404	176809404	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176809404G>A	uc001gkz.3	+	21	6462	c.5298G>A	c.(5296-5298)aaG>aaA	p.K1766K	PAPPA2_uc009www.3_Non-coding_Transcript|PAPPA2_uc001gla.2_5'Flank	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1766					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTCCTCCAAGAAGGTGAGTG	0.522000														91			25		0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24759824	24759824	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:24759824G>A	uc001mqs.3	+	3	583	c.309G>A	c.(307-309)gaG>gaA	p.E103E	LUZP2_uc009yif.3_Silent_p.E17E|LUZP2_uc009yig.3_Silent_p.E103E	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	103						extracellular region		p.E103*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGACATCAGAGAAAGCAGAAA	0.373000														37			15		0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78911186	78911186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:78911186G>A	uc002bec.3	-	1	655	c.154C>T	c.(154-156)Cct>Tct	p.P52S	CHRNA3_uc002beb.3_Missense_Mutation_p.P52S|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	52					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTGGCTACAGGCCGGATGATC	0.572000											OREG0023334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		109			17		0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55080462	55080462	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55080462C>T	uc001cxn.3	-	3	618	c.486G>A	c.(484-486)gaG>gaA	p.E162E	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	162						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTTTGCCTTCCTCTGTCAGCT	0.557000														49			15		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91347469	91347469	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:91347469C>T	uc001tbj.3	-	0	1485	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	351	Glu-rich.									NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						CCTCTCTGCTCGTTCTCCTCC	0.488000														75			26		0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518795	108518795	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:108518795G>A	uc001vql.3	-	0	666	c.150C>T	c.(148-150)gtC>gtT	p.V50V		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	50						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CAGAGAGCAGGACTGTGAAAA	0.597000														135			48		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167489245	167489245	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:167489245G>A	uc010jjd.3	+	6	1490	c.1490G>A	c.(1489-1491)aGa>aAa	p.R497K	ODZ2_uc003lzq.2_Missense_Mutation_p.R376K|ODZ2_uc003lzr.4_Missense_Mutation_p.R265K	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)		TACATAAGAAGAGGACTTCCA	0.408000														82			36		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584536	7584536	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7584536C>T	uc003mxp.1	+	23	7320	c.7041C>T	c.(7039-7041)atC>atT	p.I2347I	DSP_uc003mxq.1_Silent_p.I1748I|DSP_uc021yle.1_Silent_p.I1904I	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2347	Globular 2.				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)		CAGGAAACATCATCTCTTTGT	0.473000														68			15		0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790832	4790832	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4790832G>A	uc010qyl.2	-	0	316	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	106						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)		AATCCATGAAGAAAAAACATC	0.443000														41			11		0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132207802	132207802	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:132207802G>A	uc011ecf.2	+	23	2565	c.2545G>A	c.(2545-2547)Gaa>Aaa	p.E849K		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	849	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTTGCACTGTGAAAACCTAGA	0.378000														40			28		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9001395	9001395	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:9001395C>T	uc001quz.4	+	15	2011	c.1913C>T	c.(1912-1914)cCa>cTa	p.P638L	A2ML1_uc001qva.1_Missense_Mutation_p.P218L|A2ML1_uc010sgm.2_Missense_Mutation_p.P138L	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	482						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GTGTCTGGCCCATGGGACTTT	0.552000														226			42		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039402	31039402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:31039402C>T	uc002nsu.1	+	3	3014	c.2876C>T	c.(2875-2877)cCc>cTc	p.P959L	ZNF536_uc010edd.1_Missense_Mutation_p.P959L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	959					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAGGAGAAACCCAGTGGCAAG	0.577000														151			53		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52382951	52382951	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52382951C>T	uc011bef.2	+	12	2415	c.2154C>T	c.(2152-2154)tcC>tcT	p.S718S	DNAH1_uc003ddt.1_Silent_p.S718S	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	718	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCTGGAGTCCGTGGGCCTTC	0.617000														96			37		0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85997426	85997426	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:85997426C>T	uc001kcz.1	-	1	161	c.139G>A	c.(139-141)Gac>Aac	p.D47N		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	47	LRRNT.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						ATGTCGGGGTCGTTGCACACT	0.657000														55			17		0	0	1	0	0
TRIM25	7706	broad.mit.edu	37	17	54972922	54972922	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:54972922G>A	uc002iut.3	-	6	1284	c.1224C>T	c.(1222-1224)gcC>gcT	p.A408A	TRIM25_uc010dcj.3_Silent_p.A200A	NM_005082	NP_005073	Q14258	TRI25_HUMAN	Homo sapiens tripartite motif containing 25 (TRIM25), mRNA.	408	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					ACTGTTCCGGGGCTCCAAACG	0.517000														181			18		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25886970	25886970	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:25886970G>A	uc001isj.3	+	10	2475	c.2415G>A	c.(2413-2415)gaG>gaA	p.E805E	GPR158_uc001isk.3_Silent_p.E180E	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	805						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCAAGGAGGAGACCCTGAAAA	0.547000														121			44		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20623038	20623038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:20623038C>T	uc001mqd.3	+	1	640	c.367C>T	c.(367-369)Cct>Tct	p.P123S	SLC6A5_uc009yic.3_5'UTR	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	123					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTGTAAGATCCCTTTTCTGCG	0.672000														18			7		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028738	37028738	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:37028738C>T	uc004ddl.2	+	0	2307	c.2255C>T	c.(2254-2256)cCa>cTa	p.P752L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	752								p.P752Q(3)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTCTCCGCCCAGAGCCTCTT	0.622000														38			25		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	79878690	79878690	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:79878690C>T	uc010ysh.2	+	0	13	c.8C>T	c.(7-9)tCg>tTg	p.S3L	CTNNA2_uc010yse.2_Missense_Mutation_p.S3L|CTNNA2_uc010ysf.2_Missense_Mutation_p.S3L|CTNNA2_uc010ysg.2_Missense_Mutation_p.S3L|MIR4264_uc021vjs.1_5'Flank	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	3					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCATGACTTCGGCAACTTCA	0.403000														69			26		0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67058534	67058534	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:67058534C>T	uc003dmy.3	+	3	1584	c.1531C>T	c.(1531-1533)Cgt>Tgt	p.R511C	KBTBD8_uc011bfv.2_Missense_Mutation_p.R69C	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	511										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TAAATGGACTCGTAAGAAAGA	0.368000														99			34		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76382131	76382131	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:76382131G>A	uc021rkq.1	+	9	2047	c.1712G>A	c.(1711-1713)aGt>aAt	p.S571N	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Missense_Mutation_p.S338N|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Missense_Mutation_p.S244N	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	623						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAGAAAAAAGTAATAGCTGT	0.443000														52			23		0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187118158	187118158	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187118158G>A	uc003iyw.4	+	3	782	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K		NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.	160					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TACCATTCTGGAAGATTTCTT	0.308000														71			27		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169550939	169550939	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:169550939G>A	uc003fgb.3	+	3	1498	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	500										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ATACCTCAAGGAAAACAGAAA	0.408000														29			12		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29455196	29455197	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29455196_29455197CC>TT	uc002rmy.3	-	14	3557_3558	c.2605_2606GG>AA	c.(2605-2607)ggg>AAg	p.G869K		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	869	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCCGTTTAGCCCTAGAACCGAG	0.624000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					81			30		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61962829	61962829	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61962829G>A	uc001jky.3	-	11	1661	c.1323C>T	c.(1321-1323)gcC>gcT	p.A441A	ANK3_uc010qih.2_Silent_p.A424A|ANK3_uc001jkz.4_Silent_p.A435A|ANK3_uc001jlb.1_5'UTR|ANK3_uc001jlc.1_Silent_p.A102A	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	441					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						GCCCCATGAAGGCAGCAACAT	0.443000														51			29		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169656228	169656228	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:169656228G>A	uc003fgd.3	+	8	1542	c.1275G>A	c.(1273-1275)atG>atA	p.M425I	SAMD7_uc003fge.3_Missense_Mutation_p.M425I|SAMD7_uc011bpo.2_Missense_Mutation_p.M326I	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	425										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GTGATACAATGAACATTTTTT	0.388000														40			21		0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160719870	160719870	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160719870G>A	uc001fwq.3	+	2	651	c.636G>A	c.(634-636)agG>agA	p.R212R	SLAMF7_uc010pjn.2_Silent_p.R105R|SLAMF7_uc001fws.3_Silent_p.R105R|SLAMF7_uc001fwr.3_Silent_p.R212R|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Silent_p.R105R|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Silent_p.R105R	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	212					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity	p.A211S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCCTTGCCAGGAAGCTCTGTG	0.557000														82			30		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91811697	91811697	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:91811697C>T	uc002bqv.3	+	9	2126	c.1235C>T	c.(1234-1236)cCt>cTt	p.P412L	SV2B_uc002bqt.3_Missense_Mutation_p.P412L|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.P261L	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	412					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTTTGGTTTCCTGATATGATC	0.418000														172			53		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77619947	77619947	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:77619947C>T	uc003yau.2	+	2	3144	c.2757C>T	c.(2755-2757)gcC>gcT	p.A919A	ZFHX4_uc003yat.1_Silent_p.A893A|ZFHX4_uc003yaw.1_Silent_p.A893A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	893						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)			GCCTGGAGGCCCTAAGTGTGC	0.507000										HNSCC(33;0.089)				40			6		0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55803379	55803379	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:55803379C>T	uc010gip.1	-	1	1046	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	BMP7_uc002xyc.3_Missense_Mutation_p.E173K	NM_001719	NP_001710	P18075	BMP7_HUMAN	Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.	173					BMP signaling pathway|SMAD protein signal transduction|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of MAP kinase activity|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of glomerular mesangial cell proliferation|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	p.E173K(2)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			ATCCGGAATTCGGCTGCCGTG	0.537000														136			70		0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130682871	130682871	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130682871C>T	uc011bli.2	+	11	1354	c.1058C>T	c.(1057-1059)gCt>gTt	p.A353V	ATP2C1_uc011blg.2_Missense_Mutation_p.A353V|ATP2C1_uc011blh.2_Missense_Mutation_p.A314V|ATP2C1_uc003enk.3_Missense_Mutation_p.A303V|ATP2C1_uc003enl.3_Missense_Mutation_p.A319V|ATP2C1_uc003enm.3_Missense_Mutation_p.A319V|ATP2C1_uc003enn.3_Missense_Mutation_p.A303V|ATP2C1_uc003eno.3_Missense_Mutation_p.A319V|ATP2C1_uc003enp.3_Missense_Mutation_p.A319V|ATP2C1_uc003ent.3_Missense_Mutation_p.A319V|ATP2C1_uc003ens.3_Missense_Mutation_p.A319V|ATP2C1_uc003enu.3_5'UTR	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	319					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GTGACGCTAGCTCTTGGTGTT	0.403000									Hailey-Hailey disease					150			70		0	0	1	0	0
EIF2D	1939	broad.mit.edu	37	1	206769163	206769163	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:206769163G>A	uc001heh.2	-	12	1622	c.1413C>T	c.(1411-1413)gcC>gcT	p.A471A	EIF2D_uc009xbw.2_Silent_p.A347A	NM_006893	NP_008824	P41214	EIF2D_HUMAN	Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA.	471					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TCACTTGATAGGCAGGCTGTA	0.438000														164			42		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442133	103442133	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:103442133G>A	uc001ymi.1	-	10	1627	c.1395C>T	c.(1393-1395)acC>acT	p.T465T		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	465					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCACGGTCTGGGTGGACTCTG	0.597000														221			12		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540207	169540207	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:169540207G>A	uc003fgb.3	+	0	498	c.498G>A	c.(496-498)aaG>aaA	p.K166K		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	166										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACCAGACCAAGCTGAGGGAGA	0.493000														98			13		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7681496	7681496	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:7681496G>A	uc002mgu.4	+	15	3382	c.3281G>A	c.(3280-3282)aGg>aAg	p.R1094K	CAMSAP3_uc002mgv.4_Missense_Mutation_p.R1067K|CAMSAP3_uc002mgw.3_Missense_Mutation_p.R197K	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	1067					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GGGGTGAAGAGGCCCACGTCT	0.612000														49			17		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126132960	126132960	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:126132960C>T	uc010hsg.1	+	2	222	c.163C>T	c.(163-165)Cac>Tac	p.H55Y	CCDC37_uc003eiu.1_Missense_Mutation_p.H55Y	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	55										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GAACCCTTTCCACTTATCTGG	0.567000														300			90		0	0	1	0	0
TCRBV20S1	0	broad.mit.edu	37	7	142032486	142032486	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142032486G>A	uc011krs.1	+	1	339	c.306G>A	c.(304-306)caG>caA	p.Q102Q	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron					Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds.																		AGCGCACACAGCAGGGGGACT	0.557000														18			12		0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43319820	43319820	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:43319820G>A	uc002iin.3	+	15	2198	c.1998G>A	c.(1996-1998)gaG>gaA	p.E666E	FMNL1_uc002iiq.3_Silent_p.E244E|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	666	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TCAATGATGAGAAGGTGCTGC	0.582000														25			15		0	0	1	0	0
HBG1	3047	broad.mit.edu	37	11	5275656	5275656	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5275656C>T	uc001mai.1	-	1	618	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.V61I	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	61					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGCCTTGACTTTGGGGTTG	0.537000														102			27		0	0	1	0	0
TMEM178	130733	broad.mit.edu	37	2	39931233	39931233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:39931233G>A	uc002rrt.3	+	1	493	c.413G>A	c.(412-414)cGa>cAa	p.R138Q	TMEM178_uc021vgg.1_5'UTR|TMEM178_uc010fam.2_Missense_Mutation_p.R138Q	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA.	138						integral to membrane				endometrium(1)|large_intestine(5)|lung(5)	11		all_hematologic(82;0.248)				ATTGCGCAGCGATGCACGGCC	0.448000														42			11		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002110	98002110	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:98002110C>T	uc003dsj.1	+	0	379	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GGCATATGATCGCTATGTAGC	0.378000														125			9		0	0	1	0	0
NCR3	259197	broad.mit.edu	37	6	31557903	31557903	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31557903C>T	uc003nuv.2	-	2	308	c.44_splice	c.e2-1	p.G15_splice	NCR3_uc003nuw.2_Splice_Site_p.G15_splice|NCR3_uc003nux.1_Splice_Site_p.G15_splice	NM_147130	NP_667341	O14931	NCTR3_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 3 (NCR3), transcript variant 1, mRNA.	15					cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						AGCACAGGATCCTGGGGGCAG	0.552000														38			20		0	0	1	0	0
IL11RA	3590	broad.mit.edu	37	9	34660551	34660551	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:34660551C>T	uc003zvi.3	+	10	2479	c.1123C>T	c.(1123-1125)Ctt>Ttt	p.L375F	IL11RA_uc011loq.2_Missense_Mutation_p.L375F|IL11RA_uc003zvj.3_Missense_Mutation_p.L375F|IL11RA_uc003zvk.3_Missense_Mutation_p.L375F|IL11RA_uc010mke.3_Missense_Mutation_p.L257F	NM_004512	NP_004503	Q14626	I11RA_HUMAN	Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA.	375						integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	TTTGGGAATCCTTTCTTTCCT	0.592000														36			11		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33704144	33704144	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:33704144C>T	uc001uuw.3	-	4	796	c.670G>A	c.(670-672)Gat>Aat	p.D224N	STARD13_uc001uuu.3_Missense_Mutation_p.D216N|STARD13_uc001uuv.3_Missense_Mutation_p.D106N|STARD13_uc001uux.3_Missense_Mutation_p.D189N|STARD13_uc010abh.1_Missense_Mutation_p.D209N|STARD13_uc021rhz.1_Missense_Mutation_p.D216N|STARD13_uc021ria.1_Missense_Mutation_p.D106N	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	224					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGTGGGGCATCCAGCATGACC	0.632000														36			18		0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160921009	160921009	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160921009C>T	uc001fxd.3	-	3	323	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	ITLN2_uc009wts.3_Missense_Mutation_p.G88S|ITLN2_uc010pju.2_Missense_Mutation_p.G6S	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	89	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTCCAGCCGCCACCCCCAGAA	0.577000														61			23		0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132177606	132177606	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:132177606G>A	uc010sci.2	+	4	881	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	NTM_uc001qgm.3_Missense_Mutation_p.E184K|NTM_uc010sch.2_Missense_Mutation_p.E175K|NTM_uc010scj.2_Missense_Mutation_p.E143K|NTM_uc001qgo.3_Missense_Mutation_p.E184K|NTM_uc001qgq.3_Missense_Mutation_p.E184K|NTM_uc001qgp.3_Missense_Mutation_p.E184K	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	184	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.E184K(3)|p.E184*(3)|p.D183E(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GAGTGAAGACGAATACTTGGA	0.493000														59			23		0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20130613	20130613	+	Missense_Mutation	SNP	C	T	T	rs140830467		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:20130613C>T	uc002zrr.2	+	9	1567	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	ZDHHC8_uc002zrq.3_Missense_Mutation_p.S487L|ZDHHC8_uc010gsa.3_Missense_Mutation_p.S293L	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	487						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					AATCCTGGCTCGCCTGGTGGC	0.697000														51			21		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106641605	106641605	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106641605C>T	uc021ser.1	-	1493		c.29780G>A								Parts of antibodies, mostly variable regions.																		ATCTCAGGCTCCTCAGCTCCA	0.537000														228			120		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94944637	94944637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94944637C>T	uc003uns.3	-	3	464	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	PON1_uc011kih.2_Missense_Mutation_p.E123K	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	123					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TTGTTACCTTCATCTGTGAAT	0.303000														33			10		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42880627	42880627	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42880627C>T	uc002otl.4	+	40	8672	c.8037C>T	c.(8035-8037)ccC>ccT	p.P2679P	MEGF8_uc002otm.4_Silent_p.P2287P|MEGF8_uc002otn.4_Silent_p.P340P	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2746						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)				CCTGGGGACCCATGGGAGGGG	0.726000														4			6		0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819929	17819929	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:17819929C>T	uc022btm.1	-	0	202	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	RAI2_uc004cyf.3_Missense_Mutation_p.G68S|RAI2_uc004cyg.3_Missense_Mutation_p.G68S|RAI2_uc011miy.2_Intron|RAI2_uc022btl.1_Missense_Mutation_p.G68S|RAI2_uc004cyh.4_Missense_Mutation_p.G68S|RAI2_uc010nfa.3_Missense_Mutation_p.G68S	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	68					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					AGAGCCATGCCACTCTGAGAC	0.627000														53			53		0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79314691	79314691	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:79314691G>A	uc002sny.2	-	1	160	c.48C>T	c.(46-48)ttC>ttT	p.F16F	REG1B_uc010ffv.1_Silent_p.F16F|REG1B_uc010ffw.3_Silent_p.F16F	NM_006507	NP_006498	P48304	REG1B_HUMAN	Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA.	16					cell proliferation	extracellular region	sugar binding	p.F16L(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TCAGAGACAGGAACATCAGGG	0.473000														33			16		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2786312	2786312	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2786312C>T	uc009zdu.1	+	41	5338	c.5025C>T	c.(5023-5025)taC>taT	p.Y1675Y	CACNA1C_uc001qkc.2_Silent_p.Y1646Y|CACNA1C_uc001qjz.2_Silent_p.Y1627Y|CACNA1C_uc001qkd.2_Silent_p.Y1646Y|CACNA1C_uc001qke.2_Silent_p.Y1616Y|CACNA1C_uc001qkf.2_Silent_p.Y1635Y|CACNA1C_uc009zdw.1_Silent_p.Y1668Y|CACNA1C_uc001qkg.2_Silent_p.Y1633Y|CACNA1C_uc001qkh.2_Silent_p.Y1635Y|CACNA1C_uc001qkl.2_Silent_p.Y1675Y|CACNA1C_uc001qkj.2_Silent_p.Y1627Y|CACNA1C_uc001qkk.2_Silent_p.Y1627Y|CACNA1C_uc001qkn.2_Silent_p.Y1627Y|CACNA1C_uc001qkm.2_Silent_p.Y1616Y|CACNA1C_uc001qko.2_Silent_p.Y1647Y|CACNA1C_uc001qkp.2_Silent_p.Y1627Y|CACNA1C_uc001qkq.2_Silent_p.Y1655Y|CACNA1C_uc001qku.2_Silent_p.Y1627Y|CACNA1C_uc001qkr.2_Silent_p.Y1644Y|CACNA1C_uc001qks.2_Silent_p.Y1627Y|CACNA1C_uc001qkt.2_Silent_p.Y1646Y|CACNA1C_uc009zdv.1_Silent_p.Y1624Y|CACNA1C_uc001qkb.2_Silent_p.Y1627Y|CACNA1C_uc001qki.1_Silent_p.Y1363Y|CACNA1C_uc010sea.1_Silent_p.Y318Y|AK093746_uc001qkx.1_Non-coding_Transcript|CACNA1C_uc001qky.1_5'Flank	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1675					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.Y1675*(1)|p.Y1705*(1)|p.Y1162*(1)|p.Y1668*(1)|p.Y1627*(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCCAGGAGTACTTCCGGAAGT	0.607000														22			11		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29867071	29867071	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29867071G>A	uc002kxl.3	-	3	1545	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	FAM59A_uc002kxk.2_Missense_Mutation_p.P497S	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	497										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						AGAGTCCCAGGGATGGGAAGA	0.507000														89			43		0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516385	138516385	+	Missense_Mutation	SNP	C	T	T	rs138281407	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:138516385C>T	uc010nbd.1	-	4	643	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	130					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	p.R130*(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TTTGAACGTTCGAAGAGGACT	0.537000														47			5		0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974693	49974693	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:49974693C>T	uc010rhz.2	+	0	751	c.719C>T	c.(718-720)tCc>tTc	p.S240F		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S240S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ACCTGTGTCTCCCACATCACA	0.458000														85			59		0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1562297	1562297	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1562297C>T	uc001agg.3	+	9	1548	c.1503C>T	c.(1501-1503)acC>acT	p.T501T	MIB2_uc001agh.3_Silent_p.T487T|MIB2_uc001agi.3_Silent_p.T497T|MIB2_uc001agj.3_Silent_p.T285T|MIB2_uc001agk.3_Silent_p.T436T|MIB2_uc001agl.2_Silent_p.T400T|MIB2_uc001agm.3_Silent_p.T321T|MIB2_uc010nyq.2_Silent_p.T400T|MIB2_uc009vkh.3_Silent_p.T250T|MIB2_uc001agn.3_Silent_p.T76T|MIB2_uc001ago.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	444					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGCGGTGGACCTTCAGCCCCT	0.687000														14			9		0	0	1	0	0
LFNG	3955	broad.mit.edu	37	7	2559870	2559870	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:2559870C>T	uc003smf.3	+	0	392	c.375C>T	c.(373-375)ttC>ttT	p.F125F	LFNG_uc021zyw.1_Intron|LFNG_uc021zyx.1_Intron|LFNG_uc003smg.3_Silent_p.F125F	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN	Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA.	125					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CCAAAAAGTTCCACCGCGCGC	0.751000														47			16		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286905	152286905	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152286905C>T	uc001ezu.1	-	2	493	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	153					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAACTAGATTCATGCCTTTTC	0.348000									Ichthyosis					130			17		0	0	1	0	0
CSNK1A1P1	161635	broad.mit.edu	37	15	37109956	37109956	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:37109956C>T	uc001zjg.4	-	0		c.752G>A								Homo sapiens casein kinase 1, alpha 1 pseudogene 1 (CSNK1A1P1), non-coding RNA.																		GTATAAAATTCTTTGTATGCA	0.373000														50			16		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21523896	21523896	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:21523896C>T	uc002kuq.3	+	68	9257	c.9171C>T	c.(9169-9171)atC>atT	p.I3057I	LAMA3_uc002kur.3_Silent_p.I3001I|LAMA3_uc002kus.4_Silent_p.I1448I|LAMA3_uc002kut.4_Silent_p.I1392I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	3057	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATTGAGGATCAAAAGCAAGG	0.468000														62			11		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228505603	228505603	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228505603G>A	uc009xez.1	+	52	13904	c.13860G>A	c.(13858-13860)ccG>ccA	p.P4620P	OBSCN_uc001hsn.3_Silent_p.P4620P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4620					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.P5202P(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGAGCCACCGAAGCCTGTGC	0.667000														11			3		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48736830	48736830	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:48736830C>T	uc001zwx.2	-	48	6340	c.5945G>A	c.(5944-5946)aGa>aAa	p.R1982K	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1982	EGF-like 34; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGCACATTTTCTGGGTTCTAG	0.398000														106			49		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62462974	62462974	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:62462974G>A	uc001xfu.1	+	0	434	c.237G>A	c.(235-237)gaG>gaA	p.E79E	SYT16_uc010tsd.1_Silent_p.E79E	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	79										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGAGTCAAGAGGATGCAAATT	0.378000														169			18		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216296644	216296644	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:216296644G>A	uc002vfa.3	-	3	725	c.459C>T	c.(457-459)acC>acT	p.T153T	FN1_uc002vfc.3_Silent_p.T153T|FN1_uc002vfe.3_Silent_p.T153T|FN1_uc002vff.3_Silent_p.T153T|FN1_uc002vfg.3_Silent_p.T153T|FN1_uc002vfh.3_Silent_p.T153T|FN1_uc002vfi.3_Silent_p.T153T|FN1_uc002vfj.3_Silent_p.T153T|FN1_uc002vfb.3_Silent_p.T153T|FN1_uc002vfl.3_Silent_p.T153T	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	153	Fibrin- and heparin-binding 1.|Fibronectin type-I 3.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCCTCCAGGTGTCACCAA	0.463000														179			11		0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206666435	206666435	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:206666435C>T	uc001hdz.2	+	18	2493	c.1915C>T	c.(1915-1917)Cag>Tag	p.Q639*	IKBKE_uc001hea.2_Nonsense_Mutation_p.Q554*|IKBKE_uc009xbv.2_Nonsense_Mutation_p.Q639*	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	639					DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCAGGGGGTCCAGGAGAGTCT	0.597000														10			3		0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25220525	25220525	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:25220525G>A	uc021sgb.1	+	2	1075	c.33G>A	c.(31-33)aaG>aaA	p.K11K	SNRPN_uc001ywp.1_Silent_p.K8K|SNRPN_uc001ywq.1_Silent_p.K8K|SNRPN_uc001ywr.1_Silent_p.K8K|SNRPN_uc001yws.1_Silent_p.K8K|SNRPN_uc001ywt.1_Silent_p.K8K|SNRPN_uc001ywy.1_Silent_p.K8K|SNRPN_uc001ywz.1_Intron|SNRPN_uc001yxa.1_Intron|SNRPN_uc021sga.1_Silent_p.K8K	NM_022808	NP_073719	P63162	RSMN_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 5, mRNA.	8					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		AGAGTAGCAAGATGCTGCAGC	0.433000									Prader-Willi syndrome					96			29		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56136651	56136651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:56136651G>A	uc002xyn.4	+	1	347	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	PCK1_uc010zzm.2_5'UTR	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	62					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCAGATGGAGGAAGAGGGCAT	0.607000														81			41		0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127186106	127186106	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:127186106C>T	uc004eum.3	-	0	277	c.80G>A	c.(79-81)gGa>gAa	p.G27E		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	27						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCCAATCTCTCCAGACAGGCC	0.443000														42			9		0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117666367	117666367	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117666367C>T	uc004bji.2	-	3	841	c.549G>A	c.(547-549)acG>acA	p.T183T	TNFSF8_uc022bmi.1_Intron	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	183					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	p.T183T(4)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						ATACGTGTTTCGTTTGCATTC	0.418000														107			57		0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38652442	38652442	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:38652442C>T	uc010qex.1	+	3	432	c.357C>T	c.(355-357)ttC>ttT	p.F119F	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Silent_p.F117F					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TTCATATGTTCTCCACAGCTG	0.428000														39			15		0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129781995	129781995	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:129781995G>A	uc001qfm.3	-	18	3211	c.2979C>T	c.(2977-2979)gcC>gcT	p.A993A	PRDM10_uc001qfj.3_Intron|PRDM10_uc001qfk.3_Intron|PRDM10_uc001qfl.3_Silent_p.A907A|PRDM10_uc010sbx.2_Silent_p.A903A|PRDM10_uc001qfn.3_Silent_p.A989A	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	984	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A993T(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGGAGGACGGGGCCGAGGCGG	0.572000														117			37		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139907193	139907193	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139907193G>A	uc004ckm.1	-	30	5189	c.5139C>T	c.(5137-5139)ctC>ctT	p.L1713L	ABCA2_uc022bpy.1_Silent_p.L1614L|ABCA2_uc022bpz.1_Silent_p.L1684L|ABCA2_uc011mem.1_Silent_p.L1683L|ABCA2_uc004ckl.1_Silent_p.L1614L|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1683					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGAGGTGAAGAGCAGGTACT	0.672000														49			14		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696018	222696018	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:222696018C>T	uc001hnh.1	-	8	2158	c.2100G>A	c.(2098-2100)agG>agA	p.R700R		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	700					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCAGGCTCTTCCTCCTCTTGC	0.572000														298			110		0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151337180	151337180	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151337180C>T	uc010pcy.2	-	12	1513	c.1383_splice	c.e12-1	p.R461_splice	SELENBP1_uc001exx.3_Splice_Site_p.R419_splice|SELENBP1_uc010pcz.2_Splice_Site_p.R357_splice|SELENBP1_uc001eya.3_Splice_Site_p.R355_splice	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	419					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACAGAGCCTTCCCTGGTGGAA	0.557000														156			16		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167517659	167517659	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:167517659C>T	uc010jjd.3	+	7	1596	c.1596C>T	c.(1594-1596)acC>acT	p.T532T	ODZ2_uc003lzq.2_Silent_p.T411T|ODZ2_uc003lzr.4_Silent_p.T300T	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.T365T(1)		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)		GCATACAGACCTTGGTTCAGA	0.507000														110			36		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454751	84454751	+	Missense_Mutation	SNP	G	A	A	rs146746846		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:84454751G>A	uc001vlk.3	-	0	1778	c.892C>T	c.(892-894)Cat>Tat	p.H298Y		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	298						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGTGTGGCATGATCCTCTTGC	0.562000														47			16		0	0	1	0	0
TTC30A	92104	broad.mit.edu	37	2	178482356	178482356	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:178482356G>A	uc002ulo.3	-	0	1339	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.	358					cell projection organization	cilium	binding	p.L358L(2)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			AGAAGTCATAGAGATAGGGTG	0.473000														110			38		0	0	1	0	0
SPDYE3	441272	broad.mit.edu	37	7	99917408	99917408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99917408G>A	uc022aij.1	+	8	1751	c.1567G>A	c.(1567-1569)Gtt>Att	p.V523I	DQ601342_uc011kjm.1_5'Flank	NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN	Homo sapiens speedy homolog E3 (Xenopus laevis) (SPDYE3), mRNA.	523										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CAGGGCTTGGGTTTCCCCGGA	0.632000														75			19		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439945	150439945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150439945G>A	uc022apw.1	+	5	1470	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.E240K	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		GGCCTGCCAGGAAGACTACAG	0.577000														67			20		0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104679800	104679800	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104679800C>T	uc001kwm.3	+	0	1726	c.1563C>T	c.(1561-1563)ccC>ccT	p.P521P	CNNM2_uc001kwn.3_Silent_p.P521P|CNNM2_uc001kwl.3_Silent_p.P521P	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	521	CBS 2.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ATAACCACCCCTTGCACTTTG	0.448000														145			64		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137726994	137726994	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:137726994G>A	uc004cfe.3	+	64	5696	c.5314G>A	c.(5314-5316)Gag>Aag	p.E1772K	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1772	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCCAACGACGAGGAGATGTC	0.657000														41			14		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871921	51871921	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:51871921G>A	uc002xwo.3	+	1	2811	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	TSHZ2_uc021wex.1_Missense_Mutation_p.E639K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	642					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AACACCTCCAGAAGCCAAAAA	0.557000														68			31		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842090	5842090	+	Silent	SNP	C	T	T	rs146871183		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5842090C>T	uc010qzp.2	+	0	525	c.525C>T	c.(523-525)ttC>ttT	p.F175F	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGGAACTTCATCCCCCACA	0.512000														134			45		0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	933	933	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000237.1:933C>T	uc011mgu.1	-	1		c.285G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ctccaacctccagctcaccac	0.547000														44			6		0	0	1	0	0
IL17RE	132014	broad.mit.edu	37	3	9944701	9944701	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:9944701C>T	uc003btu.3	+	1	209	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	CIDEC_uc003bto.3_Intron|IL17RE_uc003btv.3_Missense_Mutation_p.R29C|IL17RE_uc011atn.1_Non-coding_Transcript|IL17RE_uc003bty.3_Non-coding_Transcript|IL17RE_uc003btx.3_5'UTR|IL17RE_uc010hcq.3_Missense_Mutation_p.R29C|IL17RE_uc003btw.3_Missense_Mutation_p.R29C	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	Homo sapiens interleukin 17 receptor E (IL17RE), transcript variant 5, mRNA.	29						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GATTGGCTTTCGCCACCTGCC	0.612000														75			36		0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797571	127797571	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:127797571C>T	uc003qbd.3	-	5	2465	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	534						integral to membrane											GCGGCTTCTTCCTTAACAAAC	0.403000														61			34		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24528491	24528491	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24528491C>T	uc001wlj.2	+	20	1796	c.1639C>T	c.(1639-1641)Ctg>Ttg	p.L547L	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	547										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCTGCAGTCACTGTCGGTGGC	0.647000														33			15		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036508	21036508	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21036508G>A	uc010sil.2	+	10	1719	c.1654G>A	c.(1654-1656)Ggt>Agt	p.G552S	SLCO1B3_uc001rek.3_Missense_Mutation_p.G552S|SLCO1B3_uc001rel.3_Missense_Mutation_p.G552S|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	552					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)					TGCAACAGGAGGTACCACATT	0.343000														111			12		0	0	1	0	0
GPR114	221188	broad.mit.edu	37	16	57604336	57604336	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:57604336C>T	uc002ely.3	+	9	1620	c.1097C>T	c.(1096-1098)cCa>cTa	p.P366L	GPR114_uc002elx.4_Missense_Mutation_p.P366L|GPR114_uc010vhr.2_Intron	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	366					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						TCAGGGGCCCCAGCCCTCCTG	0.627000														57			14		0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56345462	56345462	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56345462G>A	uc001sij.3	+	17	1746	c.1482G>A	c.(1480-1482)gtG>gtA	p.V494V	DGKA_uc001sih.1_Silent_p.V382V|DGKA_uc001sii.1_Silent_p.V352V|DGKA_uc009zod.1_Silent_p.V413V|DGKA_uc001sik.3_Silent_p.V494V|DGKA_uc001sil.3_Silent_p.V494V|DGKA_uc001sim.3_Silent_p.V494V|DGKA_uc001sin.3_Silent_p.V494V|DGKA_uc009zof.3_Silent_p.V140V|DGKA_uc001sio.3_Silent_p.V236V	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	494	DAGKc.				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)	TGAGTAAAGTGGTACATATGG	0.433000														112			11		0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44637951	44637951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:44637951G>A	uc021xnx.1	-	2	357	c.340C>T	c.(340-342)Cct>Tct	p.P114S	YIPF7_uc010ify.2_Missense_Mutation_p.P114S	NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA.	114						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						TCTAGCAAAGGAGGCTCTTCA	0.388000														39			4		0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28548732	28548732	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:28548732C>T	uc002hey.4	-	2	789	c.245G>A	c.(244-246)tGg>tAg	p.W82*		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	82					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CTTCTTGCCCCAGGTCTCCCG	0.567000														61			51		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41161948	41161948	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41161948C>T	uc003jmk.2	-	9	1515	c.1305G>A	c.(1303-1305)caG>caA	p.Q435Q	C6_uc003jml.1_Silent_p.Q435Q	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	435	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				TCTCTGCTCCCTGTATAAATG	0.398000														65			29		0	0	1	0	0
OR13J1	392309	broad.mit.edu	37	9	35870088	35870088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35870088C>T	uc011lph.2	-	0	311	c.311G>A	c.(310-312)aGc>aAc	p.S104N		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily J, member 1 (OR13J1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L103L(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CGTGGACAGGCTCAGACACAT	0.597000														44			7		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109685438	109685438	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:109685438C>T	uc001tob.3	+	39	5718	c.5599C>T	c.(5599-5601)Caa>Taa	p.Q1867*	ACACB_uc001toc.3_Nonsense_Mutation_p.Q1867*|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Nonsense_Mutation_p.Q533*	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1867	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.P1866P(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCTGACTCCCCAAGACTACAC	0.418000														139			50		0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33693290	33693290	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33693290C>T	uc010jvf.2	-	5	1229	c.693G>A	c.(691-693)aaG>aaA	p.K231K	IP6K3_uc003ofb.2_Silent_p.K231K	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	231					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GGCGGGCCTTCTTCTCCTCCG	0.607000														36			13		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27185547	27185547	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:27185547C>T	uc011lno.2	+	7	1560	c.1118C>T	c.(1117-1119)cCc>cTc	p.P373L	TEK_uc003zqi.4_Missense_Mutation_p.P416L|TEK_uc011lnp.2_Missense_Mutation_p.P269L|TEK_uc003zqj.1_Missense_Mutation_p.P350L	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	416	Ig-like C2-type 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CGGATCCTCCCCCCTGACTCA	0.423000														140			36		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108051462	108051462	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:108051462C>T	uc001tmk.1	+	16	3803	c.3282C>T	c.(3280-3282)atC>atT	p.I1094I	BTBD11_uc001tml.1_Silent_p.I631I|BTBD11_uc001tmm.1_Silent_p.I173I	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	1094						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTCAGTCCATCCACTTGTCGT	0.507000														56			24		0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71796789	71796789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:71796789C>T	uc002llf.2	-	4	716	c.636G>A	c.(634-636)atG>atA	p.M212I	FBXO15_uc002lle.2_Missense_Mutation_p.M136I	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	136										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CAACATGCTCCATGATATATT	0.338000														46			13		0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18896805	18896805	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18896805C>T	uc002nke.3	-	12	1495	c.1459G>A	c.(1459-1461)Gtg>Atg	p.V487M	COMP_uc002nkd.3_Missense_Mutation_p.V454M|COMP_uc010xqj.2_Missense_Mutation_p.V434M	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	487					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGGTTAGGCACCAGGCGGCAG	0.716000														27			6		0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18896895	18896895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18896895C>T	uc002nke.3	-	12	1405	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	COMP_uc002nkd.3_Missense_Mutation_p.E424K|COMP_uc010xqj.2_Missense_Mutation_p.E404K	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	457					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	p.E457K(2)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCTGAGTCCTCCTGGGCACTG	0.602000														29			17		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8234487	8234487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:8234487G>A	uc003wsh.4	-	1	1432	c.1432C>T	c.(1432-1434)Cac>Tac	p.H478Y		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	478							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCTTCCGGGTGGGCCGCCATG	0.647000														32			7		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595325	140595325	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140595325G>A	uc003lja.1	+	0	1817	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	544	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGAGCAGCGAGGCGCTGGT	0.701000														71			32		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142561799	142561799	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142561799C>T	uc011kst.2	+	6	1028	c.241C>T	c.(241-243)Cct>Tct	p.P81S	EPHB6_uc011ksu.2_Missense_Mutation_p.P81S|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	81						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCAGGGGCCCCTCCAGGCAC	0.632000														202			77		0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52569401	52569401	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52569401G>A	uc010ydh.1	-	6	2194	c.1734C>T	c.(1732-1734)ttC>ttT	p.F578F	ZNF841_uc002pyl.1_Silent_p.F462F	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AATAGTAAGTGAAGACCATGC	0.418000														82			19		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220479908	220479908	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220479908C>T	uc002vml.3	+	23	3038	c.2995C>T	c.(2995-2997)Cct>Tct	p.P999S		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	999					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGCCCTCTCCTCCAGCAGC	0.657000														16			8		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52601976	52601976	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:52601976G>A	uc002xws.2	-	6	1328	c.990C>T	c.(988-990)tcC>tcT	p.S330S	BCAS1_uc010zza.1_Silent_p.S88S|BCAS1_uc010zzb.1_Silent_p.S278S|BCAS1_uc010gim.2_Silent_p.S278S|BCAS1_uc002xwt.2_Silent_p.S330S|BCAS1_uc010gil.1_Silent_p.S330S	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	330						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGGTCTCCTGGGATGTAAAGT	0.493000														173			75		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20328616	20328616	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20328616G>A	uc002dgv.3	-	8	1427	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	GP2_uc002dgw.3_Silent_p.F445F|GP2_uc002dgx.3_Silent_p.F301F|GP2_uc002dgy.3_Silent_p.F298F	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	448	ZP.					anchored to membrane|extracellular region|plasma membrane		p.F447L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGCAAACATGAACATCTGAA	0.488000														81			9		0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182852338	182852338	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:182852338C>T	uc001gpr.3	+	24	3154	c.2979C>T	c.(2977-2979)tcC>tcT	p.S993S	DHX9_uc001gps.3_Silent_p.S779S|DHX9_uc001gpt.3_Silent_p.S272S|DHX9_uc009wyd.3_5'UTR	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	993					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TTGTTATCTCCCTCCTGGCCT	0.398000														113			38		0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118764316	118764316	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:118764316G>A	uc002tlj.3	-	2	401	c.233C>T	c.(232-234)tCt>tTt	p.S78F	CCDC93_uc010fld.2_Missense_Mutation_p.S134F	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	78										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						ACCTATCGTAGAGTTTTCTTG	0.378000														34			13		0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72985229	72985229	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:72985229G>A	uc003tyh.3	-	6	1086	c.952C>T	c.(952-954)Ccc>Tcc	p.P318S	TBL2_uc011kex.2_Missense_Mutation_p.P282S|TBL2_uc010lbg.3_Missense_Mutation_p.P223S|TBL2_uc003tyi.3_Missense_Mutation_p.P153S|TBL2_uc011key.2_Missense_Mutation_p.P189S	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	318										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGCAAGTAGGGGTCCTGCTTC	0.587000														98			32		0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99758461	99758461	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99758461G>A	uc003utt.3	-	2	1568	c.551C>T	c.(550-552)tCt>tTt	p.S184F	C7orf43_uc003utr.3_5'Flank|C7orf43_uc003uts.3_5'Flank|GAL3ST4_uc022aii.1_Missense_Mutation_p.S122F|GAL3ST4_uc003utu.3_Missense_Mutation_p.S184F	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.	184					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCAGCCAAAGATGGTGACTT	0.562000														78			27		0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89650505	89650505	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89650505G>A	uc002fnp.3	+	5	857	c.727G>A	c.(727-729)Gac>Aac	p.D243N	CPNE7_uc002fnq.3_Missense_Mutation_p.D168N	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	243	C2 2.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GAAGCTGGACGACAAGGTGAG	0.677000														48			6		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99439496	99439496	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:99439496G>A	uc002szf.1	-	6	1534	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	414	Pro-rich.									NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						TCAGTCTCGGGGGGAGTCGTG	0.721000														14			6		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469482	10469482	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10469482G>A	uc003wtc.3	-	3	2355	c.2126C>T	c.(2125-2127)tCg>tTg	p.S709L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	709					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)		CCTGGTGCTCGATGAGCTTCC	0.617000														37			15		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232561373	232561373	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:232561373G>A	uc001hvg.3	-	15	4750	c.4592C>T	c.(4591-4593)cCg>cTg	p.P1531L	SIPA1L2_uc001hvf.3_Missense_Mutation_p.P605L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1531					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GTGGGCCCGCGGAGGCAGCGT	0.667000														15			9		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120935629	120935629	+	Missense_Mutation	SNP	C	T	T	rs147434701	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:120935629C>T	uc003vjq.4	+	22	3451	c.3004C>T	c.(3004-3006)Cat>Tat	p.H1002Y		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	1002						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					ATCGCCATATCATGTCAGAGG	0.378000														104			45		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306689	41306689	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:41306689C>T	uc002xkg.3	-	6	1154	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	PTPRT_uc010ggj.3_Missense_Mutation_p.E324K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	324	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TATTCCACTTCCTTCAGGATG	0.567000														68			30		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42489109	42489109	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42489109G>A	uc002osh.3	-	7	1108	c.954C>T	c.(952-954)atC>atT	p.I318I	ATP1A3_uc010xwf.2_Silent_p.I329I|ATP1A3_uc010xwg.2_Silent_p.I288I|ATP1A3_uc002osg.3_Silent_p.I318I|ATP1A3_uc010xwh.2_Silent_p.I331I			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	318					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CATTGGCCACGATGATGCCGA	0.612000														26			8		0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27528443	27528443	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:27528443G>A	uc003xga.1	+	5	1537	c.1396G>A	c.(1396-1398)Gga>Aga	p.G466R	SCARA3_uc003xgb.1_Intron	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	466	Collagen-like 1.				UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		AGGACCAAGAGGATTCAAAGG	0.662000														133			31		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17051521	17051521	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:17051521C>T	uc011awc.2	+	2	755	c.659C>T	c.(658-660)tCa>tTa	p.S220L	PLCL2_uc010het.1_Missense_Mutation_p.S102L|PLCL2_uc011awd.2_Missense_Mutation_p.S102L	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	228	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AATTATGAGTCACTGGATTTG	0.403000														147			58		0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958448	53958448	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53958448C>T	uc010eqp.3	+	6	1145	c.687C>T	c.(685-687)ctC>ctT	p.L229L	ZNF761_uc010ydy.2_Silent_p.L175L|ZNF761_uc002qbt.2_Silent_p.L175L	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACAGCTCACTCTTAAGGAAAC	0.363000														169			46		0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118306879	118306879	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:118306879C>T	uc001lcm.3	+	2	163	c.120C>T	c.(118-120)ccC>ccT	p.P40P		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	40					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CGGAAAGACCCCTCCATATAT	0.438000														107			22		0	0	1	0	0
LCMT1	51451	broad.mit.edu	37	16	25151534	25151534	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:25151534C>T	uc002dnx.1	+	3	528	c.370C>T	c.(370-372)Cca>Tca	p.P124S	LCMT1_uc002dny.1_Missense_Mutation_p.P124S	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	124							S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GGTTGACTTTCCAATGATTGT	0.403000														9			5		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3342181	3342181	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3342181G>A	uc001akf.3	+	12	3058	c.2976G>A	c.(2974-2976)tcG>tcA	p.S992S	PRDM16_uc001ake.3_Silent_p.S992S|PRDM16_uc009vlh.3_Silent_p.S692S|PRDM16_uc001akc.3_Silent_p.S991S	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	992	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCATCTCTTCGAACCTCCAGC	0.632000			T	EVI1	"""MDS, AML"""									76			35		0	0	1	0	0
CBLN3	643866	broad.mit.edu	37	14	24898065	24898065	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24898065C>T	uc001wpg.4	-	0	667	c.196G>A	c.(196-198)Gag>Aag	p.E66K	KHNYN_uc010tpc.2_5'Flank|KHNYN_uc001wph.4_5'Flank|KHNYN_uc010alw.3_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	Homo sapiens cerebellin 3 precursor (CBLN3), mRNA.	66						cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		GGGGGTGCCTCTCCCAGGGCT	0.692000														14			3		0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43012707	43012707	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:43012707G>A	uc010wji.2	-	2	492	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L	KIF18B_uc002iht.3_Silent_p.L131L|KIF18B_uc010wjh.2_Silent_p.L131L	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				ACGGTGGTCAGGTACATGATG	0.642000														28			15		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140779595	140779595	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140779595C>T	uc003lkf.2	+	0	1901	c.1901C>T	c.(1900-1902)gCc>gTc	p.A634V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.A634V|PCDHGC5_uc011dax.2_5'Flank|PCDHGC5_uc003lkh.2_5'Flank	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	640	Cadherin 6.				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)			AGGGACGCGGCCCGCCAGCGC	0.687000														33			12		0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7848085	7848085	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7848085C>T	uc001qte.3	-	0	276	c.240G>A	c.(238-240)ggG>ggA	p.G80G		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	80					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	p.R79C(1)|p.G80E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GAAGTACATTCCCGCGGACGC	0.488000														65			36		0	0	1	0	0
FLJ38723	0	broad.mit.edu	37	15	62539576	62539576	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:62539576C>T	uc002ajj.1	-	3	297	c.289G>A	c.(289-291)Gag>Aag	p.E97K	FLJ38723_uc002ain.1_Non-coding_Transcript|DQ583624_uc021sof.1_5'Flank|DQ596164_uc021sog.1_5'Flank|DQ590682_uc002ajw.3_5'Flank|DQ578824_uc010uhq.2_5'Flank|DQ573543_uc002ajx.3_5'Flank|DQ596057_uc002ajy.3_5'Flank|DQ586930_uc021soh.1_5'Flank|DQ592483_uc021soi.1_5'Flank					RecName: Full=Golgin subfamily A member 2-like protein 4;																		GCATACTGCTCTCTCTCCATT	0.567000														19			14		0	0	1	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43694429	43694429	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:43694429C>T	uc001jao.1	-	8	1093	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	RASGEF1A_uc001jap.1_Silent_p.L328L	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	Homo sapiens RasGEF domain family, member 1A (RASGEF1A), mRNA.	328	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						AAGTTTTCTTCAGCCTTGCCA	0.622000														87			49		0	0	1	0	0
CNIH3	149111	broad.mit.edu	37	1	224804900	224804900	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:224804900C>T	uc001hos.1	+	0	722	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	Homo sapiens cornichon homolog 3 (Drosophila) (CNIH3), mRNA.	8					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		TCGCTGCGTTCTGCTACATGC	0.597000														375			96		0	0	1	0	0
NELF	26012	broad.mit.edu	37	9	140344095	140344095	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140344095G>A	uc004cna.3	-	14	1683	c.1451C>T	c.(1450-1452)cCt>cTt	p.P484L	NELF_uc011mex.2_Missense_Mutation_p.P281L|NELF_uc010nci.3_Missense_Mutation_p.P228L|NELF_uc011mey.2_Non-coding_Transcript|NELF_uc004cnb.3_Missense_Mutation_p.P454L|NELF_uc004cmz.3_Missense_Mutation_p.P482L|NELF_uc011mez.2_Missense_Mutation_p.P461L|NELF_uc004cnc.3_Missense_Mutation_p.P459L|NELF_uc022bqi.1_Missense_Mutation_p.P461L	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	Homo sapiens nasal embryonic LHRH factor (NELF), transcript variant 1, mRNA.	484						nucleus|plasma membrane				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	10	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		GACCCTATAAGGAGTCATGAG	0.637000														13			6		0	0	1	0	0
LRRC3	81543	broad.mit.edu	37	21	45877172	45877172	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45877172C>T	uc021wjs.1	+	0	645	c.645C>T	c.(643-645)ttC>ttT	p.F215F	LRRC3_uc002zfa.3_Silent_p.F215F	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	215						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCGGCTGGTTCGCCATGGTGA	0.642000														82			8		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42375933	42375933	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42375933C>T	uc001zox.3	-	6	611	c.516G>A	c.(514-516)ggG>ggA	p.G172G		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	172					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CAGCGGTGCTCCCTGTGCTGT	0.627000														101			55		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832883	61832883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61832883C>T	uc001jky.3	-	36	8094	c.7756G>A	c.(7756-7758)Gaa>Aaa	p.E2586K	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.	2586					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						GTCAGTTTTTCTTCAGCCTCC	0.433000														93			44		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202735	56202735	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:56202735C>T	uc002lhj.4	-	4	4898	c.4684G>A	c.(4684-4686)Ggc>Agc	p.G1562S	ALPK2_uc002lhk.1_Missense_Mutation_p.G893S	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1562							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGAATTTGGCCTGTGGAGTTG	0.448000														96			27		0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219492822	219492822	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219492822C>T	uc021vwx.1	+	6	1182	c.843C>T	c.(841-843)ttC>ttT	p.F281F	PLCD4_uc002vik.1_Silent_p.F128F|PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	281					intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAGACATCTTCAACCCAGCCT	0.522000														78			25		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52818464	52818464	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52818464G>A	uc003dfs.3	+	10	1408	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.E318K|ITIH1_uc021wzg.1_Missense_Mutation_p.E172K|ITIH1_uc021wzh.1_Missense_Mutation_p.E172K|ITIH1_uc003dft.3_Missense_Mutation_p.E61K	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	460	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GAGAATCTACGAGGACCATGA	0.582000														55			24		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156787340	156787340	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156787340C>T	uc021ygm.1	+	24	3003	c.2865C>T	c.(2863-2865)ccC>ccT	p.P955P	CYFIP2_uc011ddn.2_Silent_p.P930P|CYFIP2_uc011ddo.2_Silent_p.P760P|CYFIP2_uc021ygn.1_Silent_p.P955P|CYFIP2_uc021ygo.1_Silent_p.P955P|CYFIP2_uc003lwt.3_Silent_p.P859P|CYFIP2_uc011ddp.2_Silent_p.P690P	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	981					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGTGATGCCCAAGATATGCC	0.527000														107			53		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19740991	19740991	+	Silent	SNP	G	A	A	rs144936310	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19740991G>A	uc002nnd.3	-	20	2811	c.2694C>T	c.(2692-2694)acC>acT	p.T898T	LPAR2_uc002nnb.4_5'Flank|LPAR2_uc002nna.4_5'Flank|LPAR2_uc002nnc.4_5'Flank|GMIP_uc010xrb.2_Silent_p.T872T|GMIP_uc010xrc.2_Silent_p.T869T	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	898					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ATGTGATGGGGGTCTCCTCGC	0.701000														25			8		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28229561	28229561	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:28229561C>T	uc009xky.3	-	12	2015	c.1917G>A	c.(1915-1917)cgG>cgA	p.R639R	ARMC4_uc010qds.2_Silent_p.R164R|ARMC4_uc010qdt.2_Silent_p.R331R|ARMC4_uc001itz.3_Silent_p.R639R|ARMC4_uc010qdu.1_Silent_p.R331R	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	639							binding	p.R639Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCTTCAGCAGCCGAGCCAACA	0.527000														112			44		0	0	1	0	0
CLPS	1208	broad.mit.edu	37	6	35765005	35765005	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:35765005G>A	uc003ole.2	-	0	117	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S	CLPS_uc021yyz.1_5'UTR|CLPS_uc003olf.2_Missense_Mutation_p.P21S	NM_001832	NP_001823	P04118	COL_HUMAN	Homo sapiens colipase, pancreatic (CLPS), transcript variant 1, mRNA.	21					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region				large_intestine(2)|lung(2)|prostate(1)	5						ATCCCCCGGGGGCCAGGAGCT	0.592000														135			24		0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	825227	825227	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:825227C>T	uc010krz.1	+	12	2525	c.2505C>T	c.(2503-2505)caC>caT	p.H835H	HEATR2_uc003siz.2_Silent_p.H703H|HEATR2_uc003sjb.2_Silent_p.H215H|HEATR2_uc003sjc.2_Silent_p.H260H	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	835							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TCCACAAGCACCGCTCGGCCA	0.602000														61			32		0	0	1	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67429105	67429105	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:67429105G>A	uc010vjm.2	-	9	1334	c.1030C>T	c.(1030-1032)Ccg>Tcg	p.P344S	TPPP3_uc002etb.3_5'Flank|TPPP3_uc002eta.3_5'Flank	NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	Homo sapiens zinc finger, DHHC-type containing 1 (ZDHHC1), mRNA.	344						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GTCGGATCCGGGGAGGCAGGG	0.637000														13			10		0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137777102	137777102	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:137777102G>A	uc004cfg.1	+	4	329	c.319G>A	c.(319-321)Gac>Aac	p.D107N	FCN2_uc004cfh.1_Missense_Mutation_p.D69N	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	107	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TACCTGCAAGGACCTGCTAGA	0.667000														35			12		0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63981490	63981490	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:63981490C>T	uc003dlv.3	+	11	2545	c.1992C>T	c.(1990-1992)tcC>tcT	p.S664S	ATXN7_uc003dlw.4_Silent_p.S664S|ATXN7_uc021wzy.1_Silent_p.S664S|ATXN7_uc011bfn.2_Silent_p.S519S	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	664	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CGGTTCCTTCCTCCCCCATGT	0.512000														91			44		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439658	145439658	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:145439658C>T	uc003lnt.3	+	8	2023	c.1785C>T	c.(1783-1785)tcC>tcT	p.S595S	SH3RF2_uc011dbl.1_Silent_p.S595S|SH3RF2_uc011dbm.1_Silent_p.S80S|SH3RF2_uc003lnu.3_Silent_p.S86S|SH3RF2_uc011dbn.1_Silent_p.S86S|SH3RF2_uc011dbo.2_Silent_p.S52S	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	595							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.S595F(1)		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)			GGATCCACTCCGCGGCCAGCT	0.632000														67			21		0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70387219	70387219	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:70387219C>T	uc004dzd.2	+	6	1606	c.1272C>T	c.(1270-1272)gtC>gtT	p.V424V	NLGN3_uc004dzb.3_Silent_p.V404V|NLGN3_uc011mps.2_Silent_p.V384V|NLGN3_uc004dzc.3_Silent_p.V287V|NLGN3_uc004dze.3_Silent_p.V222V	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	424					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					AGGATGGTGTCTCTGGCACTG	0.517000														20			31		0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100117458	100117458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:100117458C>T	uc004egj.3	-	5	800	c.594G>A	c.(592-594)agG>agA	p.R198R	NOX1_uc004egl.4_Silent_p.R198R|NOX1_uc010nne.3_Silent_p.R161R	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	198	Ferric oxidoreductase.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CAAAATAACTCCTCCGGATGA	0.438000														68			114		0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135386427	135386427	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:135386427C>T	uc003vtb.3	-	7	1403	c.714_splice	c.e7+1	p.Q238_splice	SLC13A4_uc003vta.3_Splice_Site_p.Q237_splice	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	237						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CGTTCTATTACCTGGGATGGG	0.512000														48			21		0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35800925	35800925	+	Silent	SNP	C	T	T	rs148978165		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35800925C>T	uc002nyy.2	+	7	1578	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	MAG_uc002nyx.2_Silent_p.F460F|MAG_uc010eds.2_Silent_p.F435F|MAG_uc002nyz.2_Silent_p.F460F	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	460	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGCGGGAGTTCGTGTACTCGG	0.682000														103			23		0	0	1	0	0
SNTB2	6645	broad.mit.edu	37	16	69317986	69317986	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:69317986C>T	uc002ewu.3	+	4	1204	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F	SNTB2_uc021tkg.1_Non-coding_Transcript	NM_006750	NP_006741	Q13425	SNTB2_HUMAN	Homo sapiens syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) (SNTB2), mRNA.	395	PH 2.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CGATCCCCCTCCCTTGGATCT	0.483000														123			28		0	0	1	0	0
GTPBP10	85865	broad.mit.edu	37	7	89983814	89983814	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:89983814C>T	uc003ukm.2	+	2	347	c.270C>T	c.(268-270)atC>atT	p.I90I	GTPBP10_uc003ukl.1_Intron|GTPBP10_uc003uki.1_Silent_p.I107I|GTPBP10_uc003ukj.1_Silent_p.I81I|GTPBP10_uc003ukk.1_Non-coding_Transcript|GTPBP10_uc003ukn.2_Intron|GTPBP10_uc003uko.2_5'UTR	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	Homo sapiens GTP-binding protein 10 (putative) (GTPBP10), transcript variant 2, mRNA.	90					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						ACTGTGAAATCCCTGTGCCTG	0.333000														92			37		0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214646	3214646	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3214646C>T	uc002fvi.2	+	0	1108	c.1042C>T	c.(1042-1044)Cta>Tta	p.L348L						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		TAGCCATGGCCTATGACCGCT	0.567000														35			22		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279296	16279296	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:16279296G>A	uc010gqp.2	-	3	979	c.927C>T	c.(925-927)ggC>ggT	p.G309G	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.G28G|POTEH_uc002zlj.1_Silent_p.G144G	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	309										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTGGTGTGAGGCCATGCTGTA	0.323000														341			22		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87037411	87037411	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87037411C>T	uc003uiv.1	-	24	3297	c.3221G>A	c.(3220-3222)gGg>gAg	p.G1074E	ABCB4_uc003uiw.1_Missense_Mutation_p.G1074E|ABCB4_uc003uix.1_Missense_Mutation_p.G1027E	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	1074	ABC transporter 2.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CGTGCTCTTCCCACAGCCACT	0.557000														118			25		0	0	1	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332740	71332740	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:71332740G>A	uc001jpp.3	-	1	306	c.60C>T	c.(58-60)tcC>tcT	p.S20S	NEUROG3_uc021pry.1_Silent_p.S20S	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN	Homo sapiens neurogenin 3 (NEUROG3), mRNA.	20					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CTCTGGGGAAGGACCGCTCCG	0.672000														62			24		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377563	113377563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:113377563G>A	uc003eam.3	-	6	3377	c.2966C>T	c.(2965-2967)tCa>tTa	p.S989L	KIAA2018_uc003eal.3_Missense_Mutation_p.S933L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	989					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.D988Y(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGTATCTGATGAATCTTGCTC	0.393000														145			41		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216497518	216497518	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:216497518C>T	uc001hku.1	-	6	1707	c.1320G>A	c.(1318-1320)caG>caA	p.Q440Q	USH2A_uc001hkv.3_Silent_p.Q440Q	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	440	Laminin N-terminal.				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)		ACTTGGAAAGCTGAAGACAGT	0.358000										HNSCC(13;0.011)				33			12		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3428168	3428168	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3428168G>A	uc001akl.3	-	8	1287	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L	MEGF6_uc001akk.3_Silent_p.L249L	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	354	EGF-like 6.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CATGTGCACAGGGGCCCAGCA	0.642000														63			22		0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46332449	46332449	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46332449G>A	uc002pdn.3	-	13	2009	c.1764C>T	c.(1762-1764)atC>atT	p.I588I	SYMPK_uc002pdo.1_Silent_p.I588I|SYMPK_uc002pdp.1_Silent_p.I588I	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	588					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGCTGGCCAGGATCTTTATGC	0.632000														49			20		0	0	1	0	0
GATM	2628	broad.mit.edu	37	15	45669010	45669010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:45669010C>T	uc001zvc.3	-	1	406	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	GATM_uc001zvb.3_5'UTR|GATM_uc010uev.1_Missense_Mutation_p.R79Q|LOC145663_uc021sko.1_5'Flank	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	26					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	TGTCAAGGTTCGTCCAAGCTT	0.488000														21			6		0	0	1	0	0
PRLHR	2834	broad.mit.edu	37	10	120354453	120354453	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:120354453G>A	uc001ldp.1	-	1	443	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	PRLHR_uc021pzm.1_Silent_p.L102L	NM_004248	NP_004239	P49683	PRLHR_HUMAN	Homo sapiens prolactin releasing hormone receptor (PRLHR), mRNA.	102					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GACAAGGCCAGGTTGCCGATG	0.687000														58			29		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103474059	103474059	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:103474059G>A	uc001dum.3	-	14	1997	c.1679C>T	c.(1678-1680)tCa>tTa	p.S560L	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.S548L|COL11A1_uc001dun.3_Missense_Mutation_p.S509L|COL11A1_uc009weh.3_Missense_Mutation_p.S432L	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	548	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	p.G559V(1)		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)		GGCCCCAGATGAACCAGGCCC	0.373000														81			44		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50163489	50163489	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:50163489C>T	uc010njr.2	-	3	898	c.854G>A	c.(853-855)cGa>cAa	p.R285Q		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	285	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGTGATTTTTCGTTGTGGTGT	0.383000														22			47		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120980043	120980043	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:120980043C>T	uc010rzo.2	+	2	322	c.322C>T	c.(322-324)Cga>Tga	p.R108*		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	108	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAATGGAATTCGAGGCGAGAT	0.507000														46			24		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19426235	19426235	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19426235C>T	uc010tcj.1	-	0		c.19875G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTTGAGGGTTCTTCTTGGCTT	0.383000														34			10		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826217	46826217	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46826217G>A	uc003oyo.3	-	16	3712	c.3423C>T	c.(3421-3423)gcC>gcT	p.A1141A	GPR116_uc011dwj.1_Silent_p.A696A|GPR116_uc011dwk.1_Silent_p.A570A|GPR116_uc003oyp.3_Silent_p.A999A|GPR116_uc003oyq.3_Silent_p.A1141A|GPR116_uc010jzi.1_Silent_p.A813A	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1141					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGACCGAGATGGCAAGTGGGC	0.552000														40			9		0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52732463	52732463	+	Silent	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:52732463G>C	uc001cto.3	+	5	2587	c.2415G>C	c.(2413-2415)gtG>gtC	p.V805V	ZFYVE9_uc001ctp.3_Intron	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	805	SBD.				SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CTCCCACTGTGATGGTACCTG	0.507000														57			24		0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906301	5906301	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5906301T>A	uc010qzs.2	+	0	779	c.779T>A	c.(778-780)tTt>tAt	p.F260Y	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S259Y(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTTTTTCTTTTATGACACAT	0.423000														129			59		0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164761751	164761751	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:164761751C>T	uc001gct.3	+	2	749	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	PBX1_uc010pku.2_Nonsense_Mutation_p.Q96*|PBX1_uc001gcs.3_Nonsense_Mutation_p.Q96*|PBX1_uc010pkv.2_Nonsense_Mutation_p.Q13*|PBX1_uc010pkw.1_5'UTR	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	96					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CCGAGGAGCCCAGGAGGAGGA	0.532000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									35			14		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149513291	149513291	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149513291G>A	uc003lro.3	-	5	1261	c.792C>T	c.(790-792)ttC>ttT	p.F264F	PDGFRB_uc010jhd.3_Silent_p.F103F|PDGFRB_uc011dcg.1_Silent_p.F264F	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	264	Ig-like C2-type 3.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATCCAAGAGGAAGTCAGTCA	0.602000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									112			42		0	0	1	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104318	26104318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:26104318C>T	uc003ngi.3	+	0	143	c.143C>T	c.(142-144)tCc>tTc	p.S48F		NM_003542	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4c (HIST1H4C), mRNA.	48					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AAGCGCATTTCCGGTCTTATC	0.537000														53			21		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140730381	140730381	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140730381G>A	uc003ljo.2	+	0	554	c.554G>A	c.(553-555)gGa>gAa	p.G185E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.G185E	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	188	Cadherin 2.				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)			AGTCCTGATGGAAGTAAATAT	0.468000														207			42		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68280418	68280418	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:68280418G>A	uc009xpn.1	-	10	1611	c.1488C>T	c.(1486-1488)gcC>gcT	p.A496A	CTNNA3_uc001jmw.2_Silent_p.A496A|CTNNA3_uc001jmx.4_Silent_p.A496A	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	496					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGTCATCTACGGCTTCAGTGA	0.358000														77			41		0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	94797	94797	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:94797C>T	uc001ifi.2	-	1	113	c.113G>A	c.(112-114)gGg>gAg	p.G38E		NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA.	38					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GTGGCTGTCCCCGTGGTAGGT	0.647000														8			5		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30672584	30672584	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30672584G>A	uc003nrg.4	-	9	4816	c.4376C>T	c.(4375-4377)aCc>aTc	p.T1459I	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.T1066I	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1459	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GTCTGTGGAGGTGGAAGGCTG	0.567000								Other conserved DNA damage response genes						188			129		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138657008	138657008	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:138657008C>T	uc011mdq.2	+	11	1241	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	KCNT1_uc011mdr.2_Silent_p.F216F|KCNT1_uc010nbf.3_Silent_p.F344F|KCNT1_uc004cgo.1_Silent_p.F138F	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	389						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCATGGACTTCCTGAACGAGT	0.647000														85			45		0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227843293	227843293	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:227843293C>T	uc021pjy.1	+	3	1683	c.1507C>T	c.(1507-1509)Ctt>Ttt	p.L503F	ZNF678_uc001hqw.2_Missense_Mutation_p.L448F|ZNF678_uc009xet.2_Intron|ZNF678_uc009xeu.2_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA.	503					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ATCCTCAATCCTTAGTAAGCA	0.378000														78			26		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131671830	131671830	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:131671830C>T	uc021qav.1	-	7	726	c.625G>A	c.(625-627)Ggc>Agc	p.G209S	EBF3_uc001lki.2_Missense_Mutation_p.G223S	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	223					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AGCACGTGGCCGTCCACGTTG	0.527000														36			12		0	0	1	0	0
RNFT2	84900	broad.mit.edu	37	12	117191865	117191865	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117191865G>A	uc009zwn.3	+	5	860	c.627_splice	c.e5+1	p.K209_splice	RNFT2_uc001twb.4_Splice_Site_p.K209_splice|RNFT2_uc001twa.4_Splice_Site_p.K119_splice	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA.	209						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		TCTCACTGAAGGTGAGTCACT	0.542000														52			21		0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37415610	37415610	+	Silent	SNP	G	A	A	rs140600686	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:37415610G>A	uc002rpu.3	-	0	81	c.60C>T	c.(58-60)atC>atT	p.I20I	SULT6B1_uc010yni.2_Non-coding_Transcript	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA.	58						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				ATGCTAGCACGATGTCATCAT	0.463000														110			21		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178564819	178564819	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178564819G>A	uc003mjw.3	-	11	2004	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	634	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGCCGTGCTCGAAGTACAGGT	0.692000														8			3		0	0	1	0	0
FAM73A	374986	broad.mit.edu	37	1	78269072	78269072	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:78269072C>T	uc010ork.2	+	3	523	c.491C>T	c.(490-492)tCt>tTt	p.S164F	FAM73A_uc001dhx.3_Missense_Mutation_p.S164F|FAM73A_uc010orl.2_Missense_Mutation_p.S126F|FAM73A_uc001dhy.1_5'UTR	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	164						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TATTCAGGTTCTGCACAGAGT	0.299000														48			16		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975656	44975656	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:44975656C>T	uc001wvn.3	-	0	844	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	179						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGGGCATCTTCCTTTGACTTT	0.398000														186			73		0	0	1	0	0
ADRBK2	157	broad.mit.edu	37	22	26118352	26118352	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26118352C>T	uc003abx.4	+	20	2149	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	668							ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CCTCAACAAACCTCGGTCAGG	0.552000														70			29		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2150448	2150448	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2150448G>A	uc002cos.1	-	26	9726	c.9517C>T	c.(9517-9519)Ccg>Tcg	p.P3173S	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.P3173S|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	3173	PLAT.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGCTGTGCGGGGTGGCGATC	0.652000														72			7		0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19286458	19286458	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:19286458C>T	uc002gvn.3	+	6	2751	c.2365C>T	c.(2365-2367)Cct>Tct	p.P789S	MAPK7_uc002gvo.3_Missense_Mutation_p.P650S|MAPK7_uc002gvq.3_Missense_Mutation_p.P789S|MAPK7_uc002gvp.3_Missense_Mutation_p.P789S|DM110819_uc010vyt.1_5'Flank	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	789	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TGGCATGAACCCTGCCGATAT	0.612000														28			24		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6030491	6030491	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6030491C>T	uc001qnm.2	-	2	309	c.237G>A	c.(235-237)ttG>ttA	p.L79L	ANO2_uc021qtt.1_Silent_p.L83L	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	83						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GACGGGCCTCCAAGGACACAG	0.562000														44			10		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143034	55143034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55143034G>A	uc002qgj.3	+	4	494	c.154G>A	c.(154-156)Ggc>Agc	p.G52S	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.G52S|LILRB1_uc002qgk.3_Missense_Mutation_p.G52S|LILRB1_uc002qgm.3_Missense_Mutation_p.G52S|LILRB1_uc010erq.3_Missense_Mutation_p.G52S|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.	52	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			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)		GTGTCAGGGGGGCCAGGAGAC	0.572000										HNSCC(37;0.09)				101			50		0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918696	15918696	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15918696C>T	uc002nbq.2	-	0	241	c.152G>A	c.(151-153)aGc>aAc	p.S51N		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GCTGCGCTCGCTCCAGACGGT	0.622000														69			36		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33873829	33873829	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:33873829C>T	uc001zhi.3	+	13	1628	c.1558C>T	c.(1558-1560)Ctc>Ttc	p.L520F	RYR3_uc010bar.3_Missense_Mutation_p.L520F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	520					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTGAACCTCCTCTACAAATT	0.448000														75			24		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22265829	22265829	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22265829C>T	uc010air.1	+	1	244	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	TRA_uc021rpa.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: SEB 172.																		AGCAGCCTCACTGGAGTTGGG	0.453000														179			23		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25994397	25994397	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:25994397G>A	uc002rgs.2	-	4	637	c.416C>T	c.(415-417)tCc>tTc	p.S139F	ASXL2_uc002rgt.1_5'UTR	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	139	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.P139L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACTGCGGGGAGGACGACGA	0.463000														41			12		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532512	71532512	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:71532512C>T	uc004agu.3	+	8	1125	c.820C>T	c.(820-822)Cat>Tat	p.H274Y	PIP5K1B_uc011lrq.2_Missense_Mutation_p.H274Y|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	274	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GTTGGGAATTCATTTCCTGGA	0.473000														295			99		0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	100996191	100996191	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:100996191G>A	uc002bwa.3	-	12	1510	c.939C>T	c.(937-939)atC>atT	p.I313I	CERS3_uc002bvz.3_Silent_p.I302I|CERS3_uc002bwb.3_Silent_p.I302I	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	302	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GGTTGAGGAAGATGTATGAAA	0.398000														90			19		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176707784	176707784	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176707784C>T	uc003mfr.4	+	17	5979	c.5841C>T	c.(5839-5841)ttC>ttT	p.F1947F	NSD1_uc003mft.4_Silent_p.F1678F|NSD1_uc003mfs.1_Silent_p.F1844F|NSD1_uc011dfx.2_Silent_p.F1595F	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1947	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTGAAATTTTCCGCACATTAC	0.463000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				54			27		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234769	21234769	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21234769C>T	uc002red.3	-	25	5099	c.4971G>A	c.(4969-4971)acG>acA	p.T1657T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1657					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCAAGTTGGTCGTTGCACTGG	0.453000														56			16		0	0	1	0	0
GNAT3	346562	broad.mit.edu	37	7	80108268	80108268	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:80108268C>T	uc011kgu.2	-	3	350	c.350G>A	c.(349-351)gGt>gAt	p.G117D	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	117					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TGTCATGCCACCATCTTCCAG	0.418000														103			33		0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46338424	46338424	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46338424G>A	uc002pdn.3	-	10	1550	c.1305C>T	c.(1303-1305)acC>acT	p.T435T	SYMPK_uc002pdo.1_Silent_p.T435T|SYMPK_uc002pdp.1_Silent_p.T435T|SYMPK_uc002pdq.2_Silent_p.T435T	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	435					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ACTCCACGGGGGTGTAGATGG	0.607000														83			23		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976098	20976098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20976098G>A	uc010vbe.2	-	52	9108	c.9108C>T	c.(9106-9108)ttC>ttT	p.F3036F	DNAH3_uc010vbd.2_Silent_p.F471F	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3036					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGAAGTCACTGAAGCCAGGGA	0.522000														40			17		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152515623	152515623	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152515623G>A	uc021vrb.1	-	44	6060	c.6031C>T	c.(6031-6033)Ccc>Tcc	p.P2011S	NEB_uc002txu.3_Missense_Mutation_p.P2011S|NEB_uc021vrc.1_Missense_Mutation_p.P2011S|NEB_uc010fnx.3_Missense_Mutation_p.P2011S|NEB_uc021vrd.1_Missense_Mutation_p.P2011S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2011					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATAATCTGGGGGATATCAGGC	0.378000														168			73		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238256999	238256999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:238256999C>T	uc002vwl.2	-	29	7244	c.6959G>A	c.(6958-6960)gGa>gAa	p.G2320E	COL6A3_uc002vwo.2_Missense_Mutation_p.G2114E|COL6A3_uc010znj.1_Missense_Mutation_p.G1713E|COL6A3_uc002vwp.1_Missense_Mutation_p.G141E	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2320	Collagen-like 5.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TACCTTTGGTCCTGGGTATCC	0.363000														98			36		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41142988	41142988	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41142988C>T	uc003jmk.2	-	17	2954	c.2744G>A	c.(2743-2745)gGa>gAa	p.G915E	C6_uc003jml.1_Missense_Mutation_p.G915E	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	915	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				TCTTATAGTTCCCACTTCACA	0.438000														72			30		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474636	140474636	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140474636T>G	uc003lil.3	+	0	400	c.262T>G	c.(262-264)Tta>Gta	p.L88V	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	88	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATTTGTTGTTAAATGAGAA	0.512000														93			43		0	0	1	0	0
ALDOA	226	broad.mit.edu	37	16	30081507	30081507	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30081507C>T	uc010veg.2	+	9	1499	c.1231C>T	c.(1231-1233)Ctc>Ttc	p.L411F	BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.3_Missense_Mutation_p.L357F|ALDOA_uc002dvw.3_Missense_Mutation_p.L357F|ALDOA_uc002dvz.3_Missense_Mutation_p.L357F|ALDOA_uc002dwa.4_Missense_Mutation_p.L357F|ALDOA_uc002dwc.3_Missense_Mutation_p.L357F	NM_001243177	NP_001230106	P04075	ALDOA_HUMAN	Homo sapiens aldolase A, fructose-bisphosphate (ALDOA), transcript variant 6, mRNA.	357					ATP biosynthetic process|actin filament organization|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	I band|actin cytoskeleton|cytosol|extracellular vesicular exosome|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CAGCGAGTCCCTCTTCGTCTC	0.632000														88			23		0	0	1	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032182	46032182	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46032182C>T	uc002zfo.1	+	0	187	c.165C>T	c.(163-165)tcC>tcT	p.S55S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	55	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						AGCCCCGCTCCTGTGCCTCCA	0.672000														86			8		0	0	1	0	0
CELF6	60677	broad.mit.edu	37	15	72581617	72581617	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72581617G>A	uc002aui.2	-	6	1671	c.1210C>T	c.(1210-1212)Ccg>Tcg	p.P404S	BC034424_uc002aug.3_Intron|CELF6_uc002auk.3_Non-coding_Transcript|CELF6_uc010biv.1_Non-coding_Transcript|CELF6_uc010ukl.1_Missense_Mutation_p.P182S|CELF6_uc010biw.2_Missense_Mutation_p.P185S|CELF6_uc002auh.2_Missense_Mutation_p.P298S|CELF6_uc010ukm.1_Missense_Mutation_p.P298S|CELF6_uc002auj.2_Missense_Mutation_p.P185S	NM_001172685	NP_001166156	Q96J87	CELF6_HUMAN	Homo sapiens CUGBP, Elav-like family member 6 (CELF6), transcript variant 3, mRNA.	298	RRM 3.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTGCCAGGCGGGGAGTTGGCT	0.731000														8			5		0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180166062	180166062	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:180166062C>A	uc001gnz.3	+	11	2209	c.2134C>A	c.(2134-2136)Ctc>Atc	p.L712I	QSOX1_uc001gny.3_Intron|FLJ23867_uc001god.4_5'Flank	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	712					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGACATCAGCCTCTGTGTGGG	0.647000														42			22		1.64293e-13	1.65026e-13	1	1	0
ADPRH	141	broad.mit.edu	37	3	119305142	119305142	+	Silent	SNP	G	A	A	rs142760415	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:119305142G>A	uc003ecs.3	+	3	607	c.309G>A	c.(307-309)tcG>tcA	p.S103S	ADPRH_uc010hqv.3_Silent_p.S103S|ADPRH_uc011bjb.2_5'UTR|ADPRH_uc003ect.3_Silent_p.S103S	NM_001125	NP_001116	P54922	ADPRH_HUMAN	Homo sapiens ADP-ribosylarginine hydrolase (ADPRH), mRNA.	103					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GTGGTGCCTCGGTGCACAACG	0.567000														249			21		0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77950759	77950759	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:77950759G>A	uc001xtz.3	-	2	608	c.534C>T	c.(532-534)ccC>ccT	p.P178P	ISM2_uc001xua.3_Silent_p.P178P|ISM2_uc001xty.3_Silent_p.P90P	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	178						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CCTGGGTCCTGGGAGGCGTGG	0.592000														105			10		0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160970835	160970835	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160970835G>A	uc009wtt.3	-	2	486	c.216C>T	c.(214-216)ctC>ctT	p.L72L	F11R_uc010pjv.2_Silent_p.L72L|F11R_uc010pjw.2_Silent_p.L76L|F11R_uc001fxf.4_Silent_p.L72L	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	Homo sapiens F11 receptor (F11R), mRNA.	72	Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TATAGCAAACGAGTCTGGTGG	0.493000														41			22		0	0	1	0	0
C3orf36	80111	broad.mit.edu	37	3	133647250	133647250	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:133647250G>A	uc003epz.1	-	0	1407	c.398C>T	c.(397-399)tCt>tTt	p.S133F		NM_025041	NP_079317	Q3SXR2	CC036_HUMAN	Homo sapiens chromosome 3 open reading frame 36 (C3orf36), mRNA.	133	Poly-Ser.									breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GAAGGTGGAAGAGGAAGAGAG	0.592000														45			14		0	0	1	0	0
PA2G4	5036	broad.mit.edu	37	12	56504236	56504236	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56504236T>C	uc001sjm.3	+	7	1102	c.683T>C	c.(682-684)gTt>gCt	p.V228A		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	228					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GCTGTGGATGTTCTCGTCAGC	0.408000														66			38		0	0	1	0	0
CHST14	113189	broad.mit.edu	37	15	40764056	40764056	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40764056C>T	uc001zlw.3	+	0	897	c.644C>T	c.(643-645)cCc>cTc	p.P215L		NM_130468	NP_569735	Q8NCH0	CHSTE_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 (CHST14), mRNA.	215					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GTGCGGGAGCCCTTGGAACGC	0.592000														104			29		0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183777626	183777626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183777626C>T	uc003fmk.3	+	7	970	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	312						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTGTCTACTTCGCCCTGTGCC	0.517000														114			9		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92624013	92624013	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92624013G>A	uc001pdj.4	+	24	13425	c.13408G>A	c.(13408-13410)Gaa>Aaa	p.E4470K	FAT3_uc001pdi.4_Missense_Mutation_p.E942K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4502	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCCCCAACGAAACGGATTT	0.592000										TCGA Ovarian(4;0.039)				41			18		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175097744	175097744	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175097744C>T	uc001gkl.1	+	14	3305	c.3192C>T	c.(3190-3192)ttC>ttT	p.F1064F		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1064	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTGCCCGTTTCCCACACCCTT	0.537000														80			31		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	336757	336757	+	Nonsense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:336757G>C	uc001qic.2	-	7	999	c.909C>G	c.(907-909)taC>taG	p.Y303*	SLC6A13_uc009zdj.2_Nonsense_Mutation_p.Y303*|SLC6A13_uc010sdl.2_Nonsense_Mutation_p.Y211*|SLC6A13_uc010sdm.1_Nonsense_Mutation_p.Y184*	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	303					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GGTACTTGTTGTAGCTGCCCA	0.562000														39			17		0	0	1	0	0
LSS	4047	broad.mit.edu	37	21	47636337	47636337	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:47636337G>A	uc002zij.3	-	6	828	c.749C>T	c.(748-750)gCc>gTc	p.A250V	LSS_uc002zil.2_Missense_Mutation_p.A250V|LSS_uc011afv.1_Missense_Mutation_p.A239V|LSS_uc002zik.2_Missense_Mutation_p.A170V	NM_001001438	NP_002331	P48449	ERG7_HUMAN	Homo sapiens lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) (LSS), transcript variant 2, mRNA.	250					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GTCTTCCGCGGCACTCAGCCG	0.652000														57			14		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52323898	52323898	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:52323898C>T	uc003xqu.4	-	15	2075	c.1974G>A	c.(1972-1974)atG>atA	p.M658I	PXDNL_uc003xqt.4_5'Flank	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	658					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGCTCTTGCCATTTCCACAA	0.498000														14			10		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480281	73480281	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:73480281G>A	uc003xzb.3	+	1	900	c.312G>A	c.(310-312)cgG>cgA	p.R104R		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	104					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.R104W(1)		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)			ATTTCTACCGGACCGGGAAAC	0.463000														64			29		0	0	1	0	0
VGLL1	51442	broad.mit.edu	37	X	135618348	135618348	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:135618348G>A	uc004ezy.3	+	1	339	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_016267	NP_057351	Q99990	VGLL1_HUMAN	Homo sapiens vestigial like 1 (Drosophila) (VGLL1), mRNA.	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					GAGCCCCCAGGAATTGACCCC	0.537000														20			36		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160788098	160788098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160788098G>A	uc001fwu.3	+	5	1483	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	LY9_uc001fwv.3_Missense_Mutation_p.R478Q|LY9_uc001fww.3_Missense_Mutation_p.R388Q|LY9_uc001fwy.1_Missense_Mutation_p.R290Q|LY9_uc001fwz.3_Missense_Mutation_p.R130Q	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	478					cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.R478*(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATTTGGAAGCGAAAAGGACGG	0.522000														104			9		0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799809	159799809	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159799809G>A	uc001fue.4	+	1	404	c.194G>A	c.(193-195)cGa>cAa	p.R65Q		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	65						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					ACGTTTTTCCGAGGCTCCCTG	0.637000														159			80		0	0	1	0	0
IL17B	27190	broad.mit.edu	37	5	148756469	148756469	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:148756469C>T	uc003lqo.3	-	1	191	c.141G>A	c.(139-141)ctG>ctA	p.L47L		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	Homo sapiens interleukin 17B (IL17B), mRNA.	47					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACCAGGTCCAGTGGCACCT	0.652000														81			30		0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143862	55143862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:55143862C>T	uc002lgo.3	+	1	1454	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	474					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GCAACTTCTTCATGAACGCCC	0.577000														71			13		0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67053666	67053666	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:67053666G>A	uc003dmy.3	+	2	328	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	92	BTB.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AAAGAAGTTCGAATAGTTGGT	0.373000														144			66		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176002773	176002773	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176002773G>A	uc021yie.1	+	10	1167	c.893G>A	c.(892-894)aGg>aAg	p.R298K	CDHR2_uc003mem.2_Missense_Mutation_p.R298K|CDHR2_uc003men.1_Missense_Mutation_p.R298K	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	298	Cadherin 3.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGGGTGATCAGGGTCAACGGC	0.642000														3			3		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38793988	38793988	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38793988C>T	uc021yzh.1	+	28	4013	c.3904C>T	c.(3904-3906)Cga>Tga	p.R1302*	DNAH8_uc003ooe.2_Nonsense_Mutation_p.R1085*	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTTACTCTGTCGATATCTGAA	0.328000														44			16		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34646010	34646010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34646010C>T	uc010ucc.2	+	4	1394	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	C15orf55_uc010ucd.2_Missense_Mutation_p.P328S|C15orf55_uc001zif.3_Missense_Mutation_p.P310S	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	310						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GGGCCTGTCTCCTGCAACCCC	0.552000			T	"""BRD3, BRD4"""	lethal midline carcinoma									85			38		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16861084	16861084	+	Missense_Mutation	SNP	G	A	A	rs148029259	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16861084G>A	uc002neu.4	+	5	2053	c.1631G>A	c.(1630-1632)cGg>cAg	p.R544Q	NWD1_uc002net.4_Missense_Mutation_p.R409Q|NWD1_uc002nev.4_Missense_Mutation_p.R338Q|NWD1_uc021uqg.1_Missense_Mutation_p.R409Q	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	544	NACHT.						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						GAGGAAGCCCGGAAATGGGCC	0.662000														43			18		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13762864	13762864	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13762864G>A	uc003jfd.2	-	59	10290	c.10248C>T	c.(10246-10248)ttC>ttT	p.F3416F	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3416	Stalk (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)					TTATAGAAAAGAAGGAAGCCA	0.478000									Kartagener syndrome					70			24		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87967765	87967765	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:87967765C>T	uc003plm.4	+	7	4459	c.4418C>T	c.(4417-4419)tCt>tTt	p.S1473F		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TTTCCTCGATCTGGTGTGACT	0.403000														34			7		0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52918892	52918892	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52918892C>T	uc002pzh.3	+	6	1213	c.787C>T	c.(787-789)Cat>Tat	p.H263Y	ZNF528_uc002pzi.3_Missense_Mutation_p.H30Y	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCAAAGAATTCATACTGGAGA	0.398000														101			33		0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102667464	102667464	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102667464G>A	uc001phi.2	-	3	699	c.556C>T	c.(556-558)Caa>Taa	p.Q186*	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Nonsense_Mutation_p.Q120*	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	186	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GGGCCTGGTTGAAAAGCATGA	0.418000														67			29		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123311	12123311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:12123311C>T	uc003nac.3	+	3	3462	c.3283C>T	c.(3283-3285)Ctt>Ttt	p.L1095F	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1095					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCATATTCACCTTGTTGCCAG	0.463000														50			10		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582444	136582444	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:136582444C>T	uc003qgx.1	-	11	2969	c.2716G>A	c.(2716-2718)Gaa>Aaa	p.E906K	BCLAF1_uc011edb.1_Missense_Mutation_p.E185K|BCLAF1_uc003qgy.1_Missense_Mutation_p.E855K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E904K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E733K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	906					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.E906D(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCATTATTTTCCATGGTCTCT	0.378000														197			26		0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116720701	116720701	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:116720701C>T	uc011ebg.2	+	1	444	c.345C>T	c.(343-345)gcC>gcT	p.A115A	DSE_uc011ebf.1_Silent_p.A96A|DSE_uc003pwq.1_Silent_p.A96A|DSE_uc003pws.3_Silent_p.A96A|DSE_uc003pwt.3_Silent_p.A96A	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	96					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ACTACAGTGCCCGCTGGAATG	0.547000														19			20		0	0	1	0	0
SNPH	9751	broad.mit.edu	37	20	1276964	1276964	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:1276964C>T	uc002wet.3	+	3	762	c.81C>T	c.(79-81)tcC>tcT	p.S27S	SNPH_uc002wes.3_Intron	NM_014723	NP_055538	O15079	SNPH_HUMAN	Homo sapiens syntaphilin (SNPH), mRNA.	0					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						GCCCTCTCTCCTCAGCCCCCG	0.677000														25			4		0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11285177	11285177	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11285177G>A	uc002mqm.3	-	6	2143	c.2064C>T	c.(2062-2064)ttC>ttT	p.F688F	KANK2_uc021upe.1_Silent_p.F680F|KANK2_uc002mqo.4_Silent_p.F680F|KANK2_uc002mqp.1_Silent_p.F489F	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	680										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCACCACGGGGAAGTTGGCAT	0.642000														19			4		0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133883997	133883997	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:133883997A>T	uc003vrm.1	+	13	1587	c.1571A>T	c.(1570-1572)tAt>tTt	p.Y524F		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	524	Guanylate kinase-like.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AAATATTCCTATTTTGAGCCT	0.353000														127			17		0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107979432	107979432	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:107979432G>A	uc004eoc.2	-	0	176	c.143C>T	c.(142-144)tCg>tTg	p.S48L		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	48						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CGGACAAGACGACCCGGTCCC	0.657000														18			15		0	0	1	0	0
PITX3	5309	broad.mit.edu	37	10	103990562	103990562	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:103990562C>T	uc001kuu.1	-	3	772	c.618G>A	c.(616-618)ccG>ccA	p.P206P		NM_005029	NP_005020	O75364	PITX3_HUMAN	Homo sapiens paired-like homeodomain 3 (PITX3), mRNA.	206					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCACGGTGCCCGGGGCAGCCG	0.761000														3			4		0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7875820	7875820	+	Missense_Mutation	SNP	G	A	A	rs139675589		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:7875820G>A	uc002wmw.1	-	4	797	c.773C>T	c.(772-774)tCg>tTg	p.S258L	HAO1_uc010gbu.3_Missense_Mutation_p.S258L	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	258	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCCATGATTCGACACCAAGAT	0.483000														71			33		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351347	40351347	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:40351347G>A	uc003gva.1	+	3	830	c.814G>A	c.(814-816)Gga>Aga	p.G272R		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	272					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GGTCTCCCTGGGAGTGACCAT	0.502000														220			79		0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413453	72413453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:72413453C>T	uc003twk.2	+	10	2921	c.2921C>T	c.(2920-2922)gCc>gTc	p.A974V	POM121_uc003twj.3_Missense_Mutation_p.A709V|POM121_uc010lam.1_Missense_Mutation_p.A709V	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	974	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCATTTGGGGCCGCTGAGGGG	0.652000														53			17		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110441668	110441668	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110441668C>T	uc003yne.3	+	25	3204	c.3100C>T	c.(3100-3102)Cgt>Tgt	p.R1034C		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1034					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			AGACCTACTTCGTACACCCAG	0.343000										HNSCC(38;0.096)				15			5		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929478	121929478	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:121929478G>A	uc004bkc.2	-	7	2626	c.2170C>T	c.(2170-2172)Ctg>Ttg	p.L724L		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	724					cell cycle arrest|cell death	cytoplasm	protein binding			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						CGGTGTTTCAGCATACAGGAG	0.552000														114			61		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420762	55420762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55420762C>T	uc001sgp.4	+	1	917	c.539C>T	c.(538-540)tCt>tTt	p.S180F	NEUROD4_uc021qyr.1_Missense_Mutation_p.S180F	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	180					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GGCCCTCAGTCTGTCCTCCTG	0.537000														68			26		0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3005791	3005791	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3005791G>A	uc010dth.3	-	15	1942	c.1679C>T	c.(1678-1680)gCc>gTc	p.A560V	TLE2_uc010xhb.2_Missense_Mutation_p.A226V|TLE2_uc002lww.3_Missense_Mutation_p.A559V|TLE2_uc010xhc.2_Missense_Mutation_p.A437V|TLE2_uc010dti.3_Missense_Mutation_p.A573V	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	559					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GCAAACCTTGGCGTCGGGGCT	0.637000														59			7		0	0	1	0	0
PPAP2C	8612	broad.mit.edu	37	19	282190	282190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:282190G>A	uc002loh.3	-	4	827	c.724C>T	c.(724-726)Cac>Tac	p.H242Y	PPAP2C_uc002loi.3_Missense_Mutation_p.H221Y|PPAP2C_uc002loj.3_Missense_Mutation_p.H165Y	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	221					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TCGCTCCAGTGGTGTTTGTAA	0.587000														33			18		0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55815081	55815081	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55815081G>A	uc002qkf.3	+	13	1348	c.1221G>A	c.(1219-1221)ggG>ggA	p.G407G	BRSK1_uc002qkg.3_Silent_p.G391G|BRSK1_uc002qkh.3_Silent_p.G86G|Mir_324_uc021vbt.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	391					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.D407N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCCGTCACGGGAAGCGGCGAC	0.622000														102			30		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101755566	101755566	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:101755566G>A	uc003knn.3	-	7	1608	c.1436C>T	c.(1435-1437)cCa>cTa	p.P479L	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Missense_Mutation_p.P479L|SLCO6A1_uc003knq.3_Missense_Mutation_p.P417L	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	479						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAATTGCACTGGATTACAGCG	0.323000														130			49		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228550	21228550	+	Silent	SNP	G	A	A	rs75165693		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21228550G>A	uc002red.3	-	25	11318	c.11190C>T	c.(11188-11190)ttC>ttT	p.F3730F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3730					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGGAATAATGAATTTATCAG	0.408000														157			54		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57415241	57415241	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:57415241C>T	uc001cyp.3	-	5	918	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	C8B_uc010oon.2_Missense_Mutation_p.R222Q|C8B_uc010ooo.2_Missense_Mutation_p.R232Q	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	284	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ATGAGAGAATCGTTTGGTTCT	0.353000														40			29		0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45410266	45410266	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:45410266G>A	uc001rok.1	-	3	995	c.823C>T	c.(823-825)Cca>Tca	p.P275S		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	275						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GAAGGACATGGAGAAGGGAAA	0.493000														104			46		0	0	1	0	0
CLDN1	9076	broad.mit.edu	37	3	190039813	190039813	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:190039813C>T	uc003fsh.3	-	0	423	c.183G>A	c.(181-183)caG>caA	p.Q61Q		NM_021101	NP_066924	O95832	CLD1_HUMAN	Homo sapiens claudin 1 (CLDN1), mRNA.	61					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		TGCACTGGATCTGCCCGGTGC	0.622000														89			6		0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70991276	70991276	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:70991276A>G	uc021rvs.1	-	0	349	c.349T>C	c.(349-351)Ttt>Ctt	p.F117L	ADAM20_uc001xme.3_Missense_Mutation_p.F117L	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	67					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGTCCCCCAAACCGCAGGCTA	0.522000														77			29		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30724930	30724930	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30724930C>T	uc002dze.1	+	15	2776	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	SRCAP_uc021tgn.1_Silent_p.F797F|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.F654F	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	797					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)			CCCATGTCTTCCAGTCTCATC	0.517000														148			41		0	0	1	0	0
NPM2	10361	broad.mit.edu	37	8	21891760	21891760	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:21891760C>T	uc003xac.3	+	6	1135	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	NPM2_uc003xad.3_Missense_Mutation_p.P169S|NPM2_uc003xae.3_Missense_Mutation_p.P169S|NPM2_uc003xaf.3_Intron	NM_182795	NP_877724	Q86SE8	NPM2_HUMAN	Homo sapiens nucleophosmin/nucleoplasmin 2 (NPM2), mRNA.	169					chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		AAGGCTGGTGCCCCAGAAGCA	0.562000														42			22		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141051219	141051219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:141051219C>T	uc003llm.3	-	11	1850	c.1772G>A	c.(1771-1773)gGa>gAa	p.G591E	ARAP3_uc011dbe.2_Missense_Mutation_p.G253E|ARAP3_uc003lln.3_Missense_Mutation_p.G513E	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	591	Arf-GAP.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GATGAACTCTCCCCGGGGGCC	0.592000														48			14		0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64141826	64141826	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:64141826C>T	uc004dvu.3	-	1	252	c.96G>A	c.(94-96)aaG>aaA	p.K32K	ZC4H2_uc004dvv.3_Silent_p.K9K|ZC4H2_uc022byd.1_Silent_p.K9K|ZC4H2_uc022byc.1_Silent_p.K9K|ZC4H2_uc011mow.2_Silent_p.K32K|ZC4H2_uc011mov.2_Silent_p.K9K|ZC4H2_uc004dvw.2_Silent_p.K32K	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	32							metal ion binding|protein binding	p.K32N(3)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAAACTCAGCCTTCAAACGAG	0.483000														10			21		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171482205	171482205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171482205C>T	uc010pmg.2	+	2	444	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F	PRRC2C_uc001ghq.1_Missense_Mutation_p.L62F|PRRC2C_uc001ghr.1_Missense_Mutation_p.L62F	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	60							protein C-terminus binding										ACCTGCTAACCTCCCAAGTCT	0.418000														49			12		0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46563104	46563104	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:46563104G>A	uc010tfw.1	-	7	1079	c.1073C>T	c.(1072-1074)tCt>tTt	p.S358F	ZC3H13_uc001vas.1_Missense_Mutation_p.S358F|ZC3H13_uc001vat.1_Missense_Mutation_p.S358F	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	358	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CCGCTGATAAGATGGTGAAGG	0.448000														37			13		0	0	1	0	0
TNNI3	7137	broad.mit.edu	37	19	55666111	55666111	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55666111C>T	uc002qjg.4	-	5	370	c.370G>A	c.(370-372)Gag>Aag	p.E124K	TNNI3_uc010yft.2_Non-coding_Transcript	NM_000363	NP_000354	P19429	TNNI3_HUMAN	Homo sapiens troponin I type 3 (cardiac) (TNNI3), mRNA.	124					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CGTCCCACCTCCGTGATGTTC	0.582000														18			5		0	0	1	0	0
NUBP1	4682	broad.mit.edu	37	16	10850585	10850585	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:10850585C>T	uc002daa.1	+	5	422	c.399C>T	c.(397-399)ttC>ttT	p.F133F	NUBP1_uc010bum.1_Intron|NUBP1_uc002dab.1_Silent_p.F122F	NM_002484	NP_002475	P53384	NUBP1_HUMAN	Homo sapiens nucleotide binding protein 1 (NUBP1), mRNA.	133					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						CAGTGGGCTTCCTGCTCAGCA	0.527000														61			6		0	0	1	0	0
FRRS1L	23732	broad.mit.edu	37	9	111903821	111903821	+	Missense_Mutation	SNP	G	A	A	rs143745415		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:111903821G>A	uc004bdw.1	-	3	664	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C		NM_014334	NP_055149	Q9P0K9	CI004_HUMAN	Homo sapiens chromosome 9 open reading frame 4 (C9orf4), mRNA.	222	DOMON.					integral to membrane											TGCTGTATGCGGACCCTGCCA	0.448000														60			48		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36241637	36241637	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:36241637G>A	uc021rid.1	+	55	9062	c.8528G>A	c.(8527-8529)cGa>cAa	p.R2843Q	NBEA_uc021ric.1_Missense_Mutation_p.R2840Q|NBEA_uc010abi.3_Missense_Mutation_p.R1501Q|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.R636Q|NBEA_uc001uvd.3_Missense_Mutation_p.R421Q	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2843						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.E2842E(1)		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)		TACTATGAACGAGGGCGATTC	0.433000														159			58		0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29856018	29856019	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:29856018_29856019CC>TT	uc002dui.3	+	10	1991_1992	c.1839_1840CC>TT	c.(1837-1842)ggcccc>ggTTcc	p.P614S	BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.P614S|MVP_uc010vea.2_Missense_Mutation_p.P208S	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	614					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AAGCGAAGGGCCCCGATGGCAT	0.624000														122			52		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19483433	19483433	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19483433G>A	uc002dgc.4	+	10	2555	c.1806G>A	c.(1804-1806)caG>caA	p.Q602Q	TMC5_uc010vaq.2_Intron|TMC5_uc002dgb.4_Silent_p.Q602Q|TMC5_uc010var.2_Silent_p.Q602Q|TMC5_uc002dgd.1_Silent_p.Q356Q|TMC5_uc002dge.4_Silent_p.Q356Q|TMC5_uc002dgf.4_Silent_p.Q285Q|TMC5_uc002dgg.4_Silent_p.Q243Q	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	602						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						AGCTCCGTCAGGAGAATTCCA	0.527000														110			24		0	0	1	0	0
SBK2	646643	broad.mit.edu	37	19	56042656	56042656	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56042656G>A	uc010ygc.2	-	2	325	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	104	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						AACTCGTACAGGAAGCCACGG	0.652000														14			6		0	0	1	0	0
UBE2U	148581	broad.mit.edu	37	1	64707407	64707407	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:64707407G>A	uc001dbn.1	+	7	912	c.668G>A	c.(667-669)tGg>tAg	p.W223*		NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2U (putative) (UBE2U), mRNA.	223							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						CAGAAAGAATGGAATTTAAAG	0.299000														43			11		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65241864	65241864	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:65241864G>A	uc001xht.3	-	21	4872	c.4821C>T	c.(4819-4821)gtC>gtT	p.V1607V	SPTB_uc001xhr.3_Silent_p.V1607V|SPTB_uc001xhs.3_Silent_p.V1607V|SPTB_uc001xhu.3_Silent_p.V1607V|SPTB_uc010aqi.3_Silent_p.V268V	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1607					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CATCGGAGATGACGTAGAGCT	0.622000														136			15		0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254404	30254404	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:30254404C>T	uc022bug.1	+	0	363	c.363C>T	c.(361-363)ttC>ttT	p.F121F	MAGEB3_uc004dca.2_Silent_p.F121F	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	121	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TGGTGCAGTTCCTGATGGAAA	0.393000														19			20		0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43626727	43626727	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:43626727T>A	uc011lrb.2	-	3	1989	c.1960A>T	c.(1960-1962)Aag>Tag	p.K654*		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	654						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						AACTTCACCTTCTGTGCCTCC	0.567000														50			47		0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1246138	1246138	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1246138C>T	uc003jby.2	+	11	1955	c.1832C>T	c.(1831-1833)cCg>cTg	p.P611L		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	611					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GACATGCGCCCGGACACGGAC	0.746000														8			4		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175304863	175304863	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175304863C>T	uc001gkp.1	-	17	3696	c.3615G>A	c.(3613-3615)gaG>gaA	p.E1205E	TNR_uc009wwu.1_Silent_p.E1205E	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1205	Fibrinogen C-terminal.				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)					AGAACTCATCCTCCACGTTCC	0.443000														121			10		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142605896	142605896	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142605896A>C	uc003wby.1	-	14	2238	c.1974T>G	c.(1972-1974)gaT>gaG	p.D658E		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	658					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.D658N(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCTCCTGGTCATCCTCCTTGT	0.537000														59			13		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034646	16034646	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:16034646G>A	uc002nbu.2	-	6	930	c.894C>T	c.(892-894)ttC>ttT	p.F298F	CYP4F11_uc010eab.1_Silent_p.F298F|CYP4F11_uc002nbt.2_Silent_p.F298F	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	298					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCACATCAATGAAGTCTAAAG	0.463000														167			50		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4834515	4834515	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:4834515C>T	uc001alm.1	+	4	1573	c.1192C>T	c.(1192-1194)Cct>Tct	p.P398S	AJAP1_uc001aln.3_Missense_Mutation_p.P398S	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	398	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GCATCTTATTCCTGTGGCCTT	0.532000														117			12		0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4168353	4168353	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4168353G>A	uc002lzl.3	+	5	836	c.720G>A	c.(718-720)gaG>gaA	p.E240E	CREB3L3_uc002lzm.3_Silent_p.E230E|CREB3L3_uc010xib.2_Silent_p.E229E|CREB3L3_uc010xic.2_Intron	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	240					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E240K(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAGTACGAGGAGCGAGTGC	0.542000														48			8		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4872438	4872438	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:4872438G>A	uc001qne.1	+	7	1471	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	460						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ATAGATTTTGGAGACGTTTCT	0.398000														79			12		0	0	1	0	0
RTN4RL2	349667	broad.mit.edu	37	11	57235131	57235131	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57235131G>A	uc010rjt.2	+	1	81	c.81G>A	c.(79-81)gcG>gcA	p.A27A		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	Homo sapiens reticulon 4 receptor-like 2 (RTN4RL2), mRNA.	27					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TGCCCCTGGCGGCCCCCAGCT	0.677000														101			26		0	0	1	0	0
OR7C1	26664	broad.mit.edu	37	19	14910058	14910058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:14910058C>T	uc010xnz.2	-	0	891	c.891G>A	c.(889-891)atG>atA	p.M297I		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	297					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						GGGCCCTCTTCATGTCCGTGT	0.522000														96			43		0	0	1	0	0
CCDC164	92749	broad.mit.edu	37	2	26673526	26673526	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:26673526C>T	uc002rhg.2	+	12	1740	c.1666C>T	c.(1666-1668)Cac>Tac	p.H556Y		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	556										cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						ATATCGAGCTCACCGTTTATC	0.383000														111			27		0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52699483	52699483	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52699483G>A	uc010snq.2	+	6	1070	c.937G>A	c.(937-939)Gag>Aag	p.E313K	KRT86_uc009zmg.3_Missense_Mutation_p.E313K|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.E313K	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	313	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.G312W(1)		breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGGCACGGGGAGACCCTGCG	0.597000														81			7		0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119003883	119003883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:119003883C>T	uc001pvp.3	+	9	1337	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C	HINFP_uc021qrj.1_Missense_Mutation_p.R365C|HINFP_uc001pvq.3_Missense_Mutation_p.R365C|HINFP_uc001pvr.3_Missense_Mutation_p.R118C	NM_015517	NP_945322	Q9BQA5	HINFP_HUMAN	Homo sapiens histone H4 transcription factor (HINFP), transcript variant 1, mRNA.	365					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CGTGCACCTTCGCAAGAAGCA	0.502000														139			42		0	0	1	0	0
PIP	5304	broad.mit.edu	37	7	142836667	142836667	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142836667G>A	uc003wcf.1	+	3	409	c.373G>A	c.(373-375)Gat>Aat	p.D125N		NM_002652	NP_002643	P12273	PIP_HUMAN	Homo sapiens prolactin-induced protein (PIP), mRNA.	125						extracellular region	actin binding	p.P124T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CATCTGCCCTGATGATGCTGC	0.473000														164			59		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73844510	73844510	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:73844510G>A	uc001ouu.2	-	5	1275	c.1048C>T	c.(1048-1050)Cat>Tat	p.H350Y	C2CD3_uc001ouv.2_Missense_Mutation_p.H350Y	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	350						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATAGGAGGATGAACTTGGTCC	0.393000														56			14		0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90433383	90433383	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:90433383C>T	uc001kfg.2	+	6	822	c.708C>T	c.(706-708)ttC>ttT	p.F236F	LIPF_uc001kfh.2_Silent_p.F213F|LIPF_uc010qmt.2_Silent_p.F246F|LIPF_uc010qmu.2_Silent_p.F203F	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	236					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CACACAACTTCTTTGATCAAT	0.368000														154			83		0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78421875	78421875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:78421875C>T	uc003kfu.4	+	5	737	c.632C>T	c.(631-633)tCc>tTc	p.S211F	BHMT_uc011cti.2_Missense_Mutation_p.S58F	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	211	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.S211Y(2)		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)	ACAGGAGCATCCATCATTGGT	0.493000														80			21		0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115815860	115815860	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:115815860G>A	uc003krx.4	-	11	1917	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L	SEMA6A_uc010jck.3_Missense_Mutation_p.P403L|SEMA6A_uc003krw.4_5'Flank|SEMA6A_uc010jcj.3_Missense_Mutation_p.P6L	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	403	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GAAGATGGAGGGCACTGCCTC	0.498000														79			38		0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14989431	14989431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:14989431G>A	uc002dcv.3	+	30	3664	c.3598G>A	c.(3598-3600)Gca>Aca	p.A1200T		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	1200						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GCTCGGCCAGGCAGCCTCTGA	0.537000														627			64		0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170222320	170222320	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:170222320G>A	uc003mau.3	+	4	547	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	GABRP_uc011dev.2_Missense_Mutation_p.V117M	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	117						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.V117V(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTTCCTCTGGGTGCCAGATAC	0.552000														130			55		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93964487	93964487	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:93964487C>T	uc003poe.3	-	13	2651	c.2410G>A	c.(2410-2412)Gca>Aca	p.A804T	EPHA7_uc003pof.3_Missense_Mutation_p.A799T|EPHA7_uc011eac.2_Missense_Mutation_p.A800T	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	804	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCTTCGGGTGCTGTCCACCTT	0.353000														23			13		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87718078	87718078	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:87718078G>A	uc003hpz.3	+	40	6877	c.6397G>A	c.(6397-6399)Gaa>Aaa	p.E2133K	PTPN13_uc003hpy.3_Missense_Mutation_p.E2138K|PTPN13_uc003hqa.3_Missense_Mutation_p.E2114K|PTPN13_uc003hqb.3_Missense_Mutation_p.E1942K|PTPN13_uc003hqc.1_Missense_Mutation_p.E499K	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2133						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGTAAAAAGTGAAAGGTGAGA	0.284000														7			5		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45860744	45860744	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45860744C>T	uc010gpt.1	+	31	4592	c.4492C>T	c.(4492-4494)Cac>Tac	p.H1498Y	TRPM2_uc002zet.1_Missense_Mutation_p.H1448Y|TRPM2_uc002zeu.1_Missense_Mutation_p.H1448Y|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.H1448Y|TRPM2_uc002zex.1_Missense_Mutation_p.H1234Y|TRPM2_uc002zey.1_Missense_Mutation_p.H927Y|TRPM2_uc011aff.1_Missense_Mutation_p.H129Y	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1448	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGTCAGCGTCCACTTCCAGGA	0.622000														95			46		0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795591	142795591	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:142795591C>T	uc004fbz.3	-	1	841	c.87G>A	c.(85-87)gaG>gaA	p.E29E		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	29								p.Q28H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTCGGTGCCTCCTGCATCT	0.418000														21			20		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20328687	20328687	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20328687G>A	uc002dgv.3	-	8	1356	c.1273C>T	c.(1273-1275)Caa>Taa	p.Q425*	GP2_uc002dgw.3_Nonsense_Mutation_p.Q422*|GP2_uc002dgx.3_Nonsense_Mutation_p.Q278*|GP2_uc002dgy.3_Nonsense_Mutation_p.Q275*	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	425	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAATCACGTTGATTTGAGCAG	0.478000														68			14		0	0	1	0	0
AP1M2	10053	broad.mit.edu	37	19	10685646	10685646	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10685646C>T	uc002mpd.3	-	9	1197	c.1113G>A	c.(1111-1113)gaG>gaA	p.E371E	AP1M2_uc002mpc.3_Silent_p.E369E	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 2 subunit (AP1M2), mRNA.	369	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GGCCCTCCACCTCTTCCTTTT	0.617000														16			4		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003771	122003771	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122003771G>A	uc003eew.4	+	6	3438	c.3000G>A	c.(2998-3000)agG>agA	p.R1000R	CASR_uc003eev.4_Silent_p.R990R	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	990					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)	TGGCCCACAGGAATTCTACGC	0.577000														43			15		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46086047	46086047	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:46086047C>T	uc003gxb.3	-	2	429	c.277G>A	c.(277-279)Gat>Aat	p.D93N		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	93					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ACATAAACATCAGTTTCAATT	0.299000														13			9		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331897	70331897	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70331897C>T	uc001oqc.3	-	20	4415	c.4303G>A	c.(4303-4305)Gac>Aac	p.D1435N	SHANK2_uc010rqn.2_Missense_Mutation_p.D911N|SHANK2_uc001opz.3_Missense_Mutation_p.D906N|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1122	SAM.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGTGGTGGTCGCTGCTACTC	0.582000														24			37		0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12460892	12460892	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12460892G>A	uc002mtr.1	-	5	2118	c.1507C>T	c.(1507-1509)Ctt>Ttt	p.L503F	ZNF442_uc010xmk.1_Missense_Mutation_p.L434F	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TGTTGAGAAAGGTATGTGAAA	0.353000														140			36		0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999795	112999796	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:112999795_112999796CC>TT	uc001ebx.3	+	5	1909_1910	c.1681_1682CC>TT	c.(1681-1683)ccc>TTc	p.P561F	CTTNBP2NL_uc001ebz.3_Non-coding_Transcript	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	561						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCCCTGAGCCCCCTGTCTCCA	0.554000														89			29		0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60562913	60562913	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:60562913A>T	uc001jki.1	+	14	2092	c.2092A>T	c.(2092-2094)Agt>Tgt	p.S698C	BICC1_uc001jkj.1_Missense_Mutation_p.S339C	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	698					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GGCTCCAGGGAGTGAGCGCGC	0.532000														61			11		0	0	1	0	0
GTPBP3	84705	broad.mit.edu	37	19	17448979	17448979	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17448979C>T	uc002ngg.4	+	1	311	c.216C>T	c.(214-216)ccC>ccT	p.P72P	GTPBP3_uc010xpo.2_Silent_p.P94P|GTPBP3_uc010eaq.1_Non-coding_Transcript|GTPBP3_uc010ear.2_Non-coding_Transcript|GTPBP3_uc010eas.3_Silent_p.P72P|GTPBP3_uc002ngh.4_Silent_p.P72P	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	72					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GAGACCTGCCCCTTGCTCGCC	0.711000														16			4		0	0	1	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72958208	72958208	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72958208G>A	uc010uks.1	+	15	1823	c.1782G>A	c.(1780-1782)caG>caA	p.Q594Q	DQ582073_uc002aux.1_5'Flank|DQ577530_uc002auy.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	594										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GGCTGGCCCAGAAGGAGGAGG	0.627000														272			45		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501062	90501062	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90501062G>A	uc004app.4	+	3	1695	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	FAM75E1_uc004apo.1_Missense_Mutation_p.E366K	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	554						integral to membrane		p.E554K(1)									TACATCCCAGGAGAGGACACA	0.562000														127			52		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52603813	52603813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:52603813C>T	uc001jjj.3	-	3	357	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	A1CF_uc010qho.2_Missense_Mutation_p.E65K|A1CF_uc010qhn.2_Missense_Mutation_p.E65K|A1CF_uc009xov.3_Missense_Mutation_p.E57K|A1CF_uc001jji.3_Missense_Mutation_p.E57K|A1CF_uc001jjh.3_Missense_Mutation_p.E65K|A1CF_uc001jjk.1_Missense_Mutation_p.E57K	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	57	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ATAAAAATTTCACAGCCCCTT	0.428000														115			30		0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170118	58170118	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:58170118G>A	uc010rkf.2	-	0	765	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTAAGTACATGAAGATAATAG	0.463000														81			18		0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69143776	69143776	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:69143776G>A	uc010cfh.3	+	1	702	c.478G>A	c.(478-480)Gag>Aag	p.E160K	HAS3_uc002ewk.3_Missense_Mutation_p.E160K|HAS3_uc010vlk.1_Missense_Mutation_p.E160K|HAS3_uc002ewl.3_Missense_Mutation_p.E160K	NM_001199280	NP_001186209	O00219	HAS3_HUMAN	Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA.	160					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGAGGCAGGCGAGGGTGAGAC	0.647000														60			13		0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602589	5602589	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5602589G>A	uc010qzi.2	+	0	483	c.483G>A	c.(481-483)ggG>ggA	p.G161G	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTCATTGGGAAGATCGTCA	0.512000														203			72		0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1222349	1222349	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1222349C>T	uc001adt.1	+	7	1339	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	SCNN1D_uc001adu.1_Silent_p.F207F|SCNN1D_uc001adw.2_Silent_p.F273F|SCNN1D_uc001adv.2_Silent_p.F207F|SCNN1D_uc001adx.2_5'UTR	NM_001130413	NP_001123885			Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GAGTGGGGTTCAGACTGGTGA	0.706000														36			16		0	0	1	0	0
FCER1G	2207	broad.mit.edu	37	1	161188701	161188701	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161188701G>A	uc001fza.1	+	4	257	c.232G>A	c.(232-234)Gag>Aag	p.E78K	FCER1G_uc001fyz.1_Missense_Mutation_p.E77K	NM_004106	NP_004097	P30273	FCERG_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide (FCER1G), mRNA.	77	ITAM.				platelet activation	integral to plasma membrane				endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	GGAGACTTACGAGACTCTGAA	0.542000														82			26		0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224475603	224475603	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:224475603G>A	uc001hok.3	-	13	1730	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F	NVL_uc001hol.3_Silent_p.F450F|NVL_uc010pvd.2_Silent_p.F465F|NVL_uc010pve.2_Silent_p.F367F|NVL_uc010pvf.2_Non-coding_Transcript	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	556						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	p.F556L(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		GAGCAACAATGAAATCATTCA	0.478000														56			25		0	0	1	0	0
UBE2E2	7325	broad.mit.edu	37	3	23250314	23250314	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:23250314G>A	uc003ccg.2	+	1	304	c.124G>A	c.(124-126)Gag>Aag	p.E42K	UBE2E2_uc010hfc.2_Non-coding_Transcript	NM_152653	NP_689866	Q96LR5	UB2E2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2E 2 (UBE2E2), mRNA.	42					ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						CAAGAAAAAGGAGGGAAAAAT	0.388000														50			16		0	0	1	0	0
ZNF174	7727	broad.mit.edu	37	16	3454615	3454615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3454615C>T	uc002cvc.3	+	1	1407	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	ZNF174_uc002cva.2_Missense_Mutation_p.L198F|ZNF174_uc002cvb.3_Missense_Mutation_p.L198F	NM_003450	NP_003441	Q15697	ZN174_HUMAN	Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.	198					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						ATCCCCACTCCTCCAAGAACC	0.532000														95			23		0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77515942	77515942	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:77515942G>A	uc001dhi.3	+	4	847	c.672_splice	c.e4-1	p.R224_splice	ST6GALNAC5_uc010ori.2_Splice_Site_p.E88_splice|ST6GALNAC5_uc009wbw.3_Intron	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	224					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GTTCCTTCCAGGAAGATATCC	0.423000														175			11		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140731945	140731945	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140731945G>A	uc003ljo.2	+	0	2118	c.2118G>A	c.(2116-2118)gcG>gcA	p.A706A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljq.2_5'Flank|PCDHGC5_uc011daq.2_Silent_p.A706A|PCDHGC5_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	712					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)			TGATTCTAGCGATCGCCCTGC	0.612000														179			63		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87180118	87180118	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:87180118C>T	uc003uiz.2	-	10	1529	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R	ABCB1_uc011khc.2_Missense_Mutation_p.G282R	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	346	ABC transmembrane type-1 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)	GATGCCTGTCCAACACTAAAA	0.368000														58			31		0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52822170	52822170	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52822170C>T	uc001saj.2	-	6	1274	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	418	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGCAGGGCCTCCTCAAGGTCC	0.597000														41			8		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370307	86370307	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:86370307G>A	uc001vll.1	-	1	796	c.337C>T	c.(337-339)Ctc>Ttc	p.L113F	SLITRK6_uc021rla.1_Missense_Mutation_p.L113F	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	113						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGTTTCAGGAGGCCAAGGCCA	0.363000														89			50		0	0	1	0	0
SENP8	123228	broad.mit.edu	37	15	72432138	72432138	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72432138C>T	uc021spq.1	+	1	507	c.174C>T	c.(172-174)gtC>gtT	p.V58V	SENP8_uc021spr.1_Silent_p.V58V|SENP8_uc021sps.1_Silent_p.V58V|SENP8_uc021spt.1_Silent_p.V58V|SENP8_uc002atp.3_Silent_p.V58V|SENP8_uc021spu.1_Silent_p.V58V	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN	Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.	58	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						GCCCTGAAGTCACCCAGTTCA	0.463000														129			96		0	0	1	0	0
CARS	833	broad.mit.edu	37	11	3040465	3040465	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:3040465G>A	uc001lxf.3	-	11	1383	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A	CARS_uc010qxo.2_Silent_p.A433A|CARS_uc001lxe.3_Silent_p.A340A|CARS_uc001lxg.3_Silent_p.A350A|CARS_uc001lxh.3_Silent_p.A350A|CARS_uc010qxp.2_Silent_p.A363A	NM_001014437	NP_001014437	P49589	SYCC_HUMAN	Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA.	350					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TGCCTGCCATGGCCGAGCACT	0.597000			T	ALK	ALCL									128			34		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815352	23815352	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:23815352C>T	uc003gqs.3	-	7	1874	c.1754G>A	c.(1753-1755)aGg>aAg	p.R585K	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	585	Arg/Ser-rich.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGATCTTGACCTGGAATATGG	0.428000														51			13		0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242383335	242383335	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:242383335G>A	uc001hzn.2	-	5	917	c.690C>T	c.(688-690)caC>caT	p.H230H	PLD5_uc021pll.1_Silent_p.H138H|PLD5_uc001hzl.4_Silent_p.H168H|PLD5_uc001hzm.4_Silent_p.H22H|PLD5_uc001hzo.2_Silent_p.H138H	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	230	PLD phosphodiesterase 1.					integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CGATATACACGTGCTGTTTGT	0.527000														49			16		0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770916	53770916	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53770916C>T	uc010ydu.2	-	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	1					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		ACCGGGAGGCCATTCTGCCAC	0.507000										HNSCC(26;0.072)				54			20		0	0	1	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94335415	94335415	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94335415G>A	uc001dqf.3	-	6	2321	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	DNTTIP2_uc010otm.2_Non-coding_Transcript	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 2 (DNTTIP2), mRNA.	755					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TCTTAATTGCGAAATTTCTTC	0.323000														34			14		0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60499180	60499180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:60499180G>A	uc001czs.2	-	6	1105	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	333							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGAACGAGCGATCTTCTTTT	0.433000														112			28		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50249785	50249785	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50249785C>T	uc002ppm.3	-	5	945	c.934G>A	c.(934-936)Ggc>Agc	p.G312S		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	312							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		ACGTAGGGGCCCTCGCCAGCC	0.701000														62			17		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849514	73849514	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:73849514G>A	uc003xzb.3	+	2	2512	c.1924G>A	c.(1924-1926)Gag>Aag	p.E642K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	642					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)			AGGGACAGAAGAGCACCAAAG	0.592000														101			37		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32109934	32109934	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:32109934G>A	uc003tcm.2	-	0	533	c.72C>T	c.(70-72)atC>atT	p.I24I	PDE1C_uc003tcn.1_Silent_p.I24I|PDE1C_uc003tco.2_Intron|PDE1C_uc003tcr.3_Silent_p.I24I|PDE1C_uc003tcs.3_Silent_p.I24I	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	24					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGATTTTCTCGATCTGTTCCG	0.512000														135			18		0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18320445	18320445	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:18320445G>A	uc001mod.1	-	9	1336	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	HPS5_uc001moe.1_Missense_Mutation_p.S239F|HPS5_uc001mof.1_Missense_Mutation_p.S239F	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	353						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGATATCAGGGAGAGATGTGA	0.458000									Hermansky-Pudlak syndrome					98			34		0	0	1	0	0
KBTBD5	131377	broad.mit.edu	37	3	42728211	42728211	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42728211C>T	uc003clv.1	+	0	1201	c.1101C>T	c.(1099-1101)ctC>ctT	p.L367L		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	367										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTGGAGGCCTCTTCTACAACG	0.582000														47			7		0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226822414	226822414	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:226822414G>A	uc010pvo.2	-	7	3139	c.2799C>T	c.(2797-2799)gtC>gtT	p.V933V		NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	933							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TCAGGATGTCGACGAGGTTAT	0.667000														26			14		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25470566	25470566	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:25470566G>A	uc002wux.1	-	11	1615	c.1541C>T	c.(1540-1542)tCg>tTg	p.S514L	NINL_uc010gdn.1_Missense_Mutation_p.S514L|NINL_uc010gdo.1_Missense_Mutation_p.S297L	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	514					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CAGCCTCTCCGAATCCGAAAG	0.577000														114			53		0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201438535	201438535	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:201438535C>T	uc002uvw.2	+	6	3579	c.3466C>T	c.(3466-3468)Cgt>Tgt	p.R1156C	SGOL2_uc010zhd.1_Missense_Mutation_p.R1156C|SGOL2_uc010zhe.1_Missense_Mutation_p.R1156C	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	1156					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGACAGTGTTCGTGAAGGTTT	0.363000														91			31		0	0	1	0	0
JHDM1D	80853	broad.mit.edu	37	7	139826473	139826473	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:139826473G>A	uc003vvm.3	-	5	856	c.852C>T	c.(850-852)gaC>gaT	p.D284D		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	284	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTCCACCGAAGTCAATGTGGA	0.398000														113			53		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61305062	61305062	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61305062G>A	uc002ljf.3	-	7	1150	c.1064C>T	c.(1063-1065)tCa>tTa	p.S355L	SERPINB3_uc002lje.3_Missense_Mutation_p.S334L|SERPINB3_uc002ljg.3_Missense_Mutation_p.S355L	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	355		Reactive bond.			regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGAAGGAGATGATAATTCGAC	0.448000														107			42		0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544456	53544456	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:53544456C>T	uc001cuv.3	+	7	1586	c.1418C>T	c.(1417-1419)gCc>gTc	p.A473V	PODN_uc010onr.2_Missense_Mutation_p.A454V|PODN_uc010ons.2_Missense_Mutation_p.A331V|PODN_uc001cuw.3_Missense_Mutation_p.A454V	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	425					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CACCGCGACGCCTTCCGCAAG	0.637000														81			38		0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17279774	17279774	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:17279774G>A	uc010hev.3	-	17	1733	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	TBC1D5_uc010heu.3_Missense_Mutation_p.S77F|TBC1D5_uc003cbf.3_Missense_Mutation_p.S490F|TBC1D5_uc003cbe.3_Missense_Mutation_p.S490F|TBC1D5_uc010hew.1_Missense_Mutation_p.S442F	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	490						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AACAGAGGAGGAGCTACTGCT	0.512000														55			14		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55912872	55912872	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:55912872G>A	uc010qhy.1	-	14	2182	c.1787C>T	c.(1786-1788)cCt>cTt	p.P596L	PCDH15_uc010qhq.2_Missense_Mutation_p.P596L|PCDH15_uc010qhr.2_Missense_Mutation_p.P591L|PCDH15_uc021pqv.1_Missense_Mutation_p.P591L|PCDH15_uc021pqw.1_Missense_Mutation_p.P603L|PCDH15_uc010qht.2_Missense_Mutation_p.P598L|PCDH15_uc021pqx.1_Missense_Mutation_p.P591L|PCDH15_uc001jjv.1_Missense_Mutation_p.P569L|PCDH15_uc021pqy.1_Missense_Mutation_p.P591L|PCDH15_uc021pqz.1_Missense_Mutation_p.P569L|PCDH15_uc010qhv.1_Missense_Mutation_p.P591L|PCDH15_uc010qhw.1_Missense_Mutation_p.P554L|PCDH15_uc010qhx.1_Missense_Mutation_p.P591L|PCDH15_uc010qhz.1_Missense_Mutation_p.P591L|PCDH15_uc010qia.1_Missense_Mutation_p.P569L|PCDH15_uc001jju.1_Missense_Mutation_p.P591L|PCDH15_uc010qib.1_Missense_Mutation_p.P569L|PCDH15_uc001jjw.3_Missense_Mutation_p.P591L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	591	Cadherin 5.				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)				TCGCTCTGCAGGAGGAGCATT	0.453000										HNSCC(58;0.16)				54			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167678	140167678	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140167678G>A	uc003lhb.2	+	0	1803	c.1803G>A	c.(1801-1803)tcG>tcA	p.S601S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.S601S	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	614	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)			ACGCCGACTCGGGCTACAACG	0.667000														94			45		0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845226	107845226	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:107845226G>A	uc003hyi.3	-	3	1370	c.665C>T	c.(664-666)tCt>tTt	p.S222F	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	222	DKK-type Cys-2.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space		p.S222F(2)|p.S222Y(2)|p.G221D(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CAGCCCATGAGAACCCTTCTT	0.502000														128			45		0	0	1	0	0
RCC2	55920	broad.mit.edu	37	1	17739641	17739641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17739641G>A	uc001bal.3	-	8	1290	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	RCC2_uc001bam.3_Missense_Mutation_p.S414F	NM_001136204	NP_061185	Q9P258	RCC2_HUMAN	Homo sapiens regulator of chromosome condensation 2 (RCC2), transcript variant 2, mRNA.	414					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AGATTCACGGGAGGTGTTGGT	0.542000														28			10		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158490620	158490620	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:158490620C>T	uc003qqx.2	+	13	1961	c.1855C>T	c.(1855-1857)Cat>Tat	p.H619Y	SYNJ2_uc003qqw.2_Missense_Mutation_p.H619Y|SYNJ2_uc003qqy.2_Missense_Mutation_p.H382Y|SYNJ2_uc003qqz.2_Missense_Mutation_p.H236Y|SYNJ2_uc003qra.2_5'Flank	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	619							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTCACGCTCTCATAGATACAT	0.453000														27			26		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54792418	54792418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54792418C>T	uc001sga.3	-	27	2974	c.2906G>A	c.(2905-2907)cGa>cAa	p.R969Q		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	969					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.R969Q(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGGCAGGATTCGGTAGGGCAT	0.577000														32			12		0	0	1	0	0
TNFSF18	8995	broad.mit.edu	37	1	173013100	173013100	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:173013100C>T	uc001giu.2	-	1	233	c.232G>A	c.(232-234)Gag>Aag	p.E78K		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.	78					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	p.C78C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						ATACAGGGCTCCTTAGCAGTC	0.353000														78			39		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2796226	2796226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2796226C>T	uc022aqr.1	-	69	10966	c.10576G>A	c.(10576-10578)Gaa>Aaa	p.E3526K	CSMD1_uc011kwj.2_Missense_Mutation_p.E2841K|CSMD1_uc010lrg.3_Missense_Mutation_p.E1418K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3527						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGCTGTTTTCATGCCCAGCA	0.403000														14			3		0	0	1	0	0
MCU	90550	broad.mit.edu	37	10	74619011	74619011	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:74619011C>T	uc001jtc.3	+	2	318	c.297C>T	c.(295-297)ttC>ttT	p.F99F	MCU_uc009xqp.1_Non-coding_Transcript|MCU_uc009xqq.1_Non-coding_Transcript|MCU_uc010qjy.1_Non-coding_Transcript|MCU_uc009xqr.3_Silent_p.F99F|MCU_uc001jtd.3_Silent_p.F50F	NM_138357	NP_612366	Q8NE86	MCU_HUMAN	Homo sapiens mitochondrial calcium uniporter (MCU), nuclear gene encoding mitochondrial protein, mRNA.	99					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						GCTGTCAGTTCACACTCAAGC	0.438000														153			64		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157497642	157497642	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157497642G>A	uc009wsm.3	-	8	1883	c.1725C>T	c.(1723-1725)gcC>gcT	p.A575A	FCRL5_uc001fqu.3_Silent_p.A575A|FCRL5_uc010phv.1_Silent_p.A575A|FCRL5_uc010phw.1_Silent_p.A490A	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	575	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCACAGCCTGGGCCCTGGGAA	0.532000														106			33		0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160853249	160853249	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160853249C>T	uc001fxc.3	-	2	242	c.126G>A	c.(124-126)aaG>aaA	p.K42K		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	42	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTTTGATTTCCTTGCAGCTTC	0.443000														119			37		0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22051671	22051671	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:22051671C>T	uc003xbg.3	+	9	1547	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	BMP1_uc003xbf.3_Silent_p.F176F|BMP1_uc003xbb.3_Silent_p.F427F|BMP1_uc003xbc.3_Silent_p.F176F|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Silent_p.F176F|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	427	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GAAAGGGCTTCTTTGCAGTCT	0.592000														47			30		0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6731105	6731105	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6731105G>A	uc002mfp.3	-	16	1498	c.1452C>T	c.(1450-1452)tcC>tcT	p.S484S	GPR108_uc010duv.3_Silent_p.S35S	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	484						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						AGGCCAGGGTGGAGCCCTCCA	0.697000														31			13		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26465770	26465770	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:26465770C>T	uc001isn.2	+	30	4794	c.4434C>T	c.(4432-4434)ctC>ctT	p.L1478L	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1478					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCAGTGCCTCTCAGGTAAAA	0.388000														67			17		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181546989	181546989	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:181546989C>T	uc009wxt.3	+	3	795	c.600C>T	c.(598-600)ctC>ctT	p.L200L	CACNA1E_uc001gow.3_Silent_p.L200L|CACNA1E_uc009wxs.3_Silent_p.L200L|CACNA1E_uc009wxr.3_Silent_p.L107L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	200					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						CTTTGAAGCTCGTGTCAGGGA	0.537000														10			8		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40113039	40113039	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:40113039G>A	uc002xka.1	-	14	2388	c.2210C>T	c.(2209-2211)aCc>aTc	p.T737I	CHD6_uc002xkd.2_Missense_Mutation_p.T715I	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	737					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTCCATCATGGTGTTGATGAG	0.493000														163			58		0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092435	151092435	+	Missense_Mutation	SNP	C	T	T	rs140138379		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151092435C>T	uc022cgv.1	+	0	299	c.299C>T	c.(298-300)cCt>cTt	p.P100L	MAGEA4_uc004fez.3_Missense_Mutation_p.P100L|MAGEA4_uc004ffa.3_Missense_Mutation_p.P100L|MAGEA4_uc004ffb.3_Missense_Mutation_p.P100L|MAGEA4_uc022cgu.1_Missense_Mutation_p.P128L|MAGEA4_uc004ffc.3_Missense_Mutation_p.P100L|MAGEA4_uc004ffd.3_Missense_Mutation_p.P100L	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	100							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGCACCTCGCCTGACGCAGAG	0.557000														49			29		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66980196	66980196	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:66980196C>T	uc002jhu.3	-	35	4642	c.4499_splice	c.e35+1	p.R1500_splice	ABCA9_uc010dez.3_Splice_Site_p.R1462_splice	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1500	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CAGGCACTCACCTCAGCCTTC	0.592000														80			45		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095457	130095457	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:130095457G>A	uc010htj.1	+	2	939	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	149	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GTCTGAGGATGAAGTGGAAGA	0.522000														17			10		0	0	1	0	0
ELANE	1991	broad.mit.edu	37	19	856138	856138	+	Missense_Mutation	SNP	C	T	T	rs143579306	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:856138C>T	uc002lqb.3	+	4	816	c.778C>T	c.(778-780)Ccg>Tcg	p.P260S		NM_001972	NP_001963	P08246	ELNE_HUMAN	Homo sapiens elastase, neutrophil expressed (ELANE), mRNA.	260					cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCCCCGGGACCCGGACCCGGC	0.612000														186			51		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7571684	7571684	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7571684C>T	uc003mxp.1	+	13	2049	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	DSP_uc003mxq.1_Silent_p.F590F|DSP_uc021yle.1_Silent_p.F590F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	590	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)		ACCAAGAGTTCATCAGAAATA	0.458000														266			30		0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72295967	72295967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72295967G>A	uc002jkf.3	+	6	945	c.835G>A	c.(835-837)Gag>Aag	p.E279K	DNAI2_uc002jkg.3_Missense_Mutation_p.E279K|DNAI2_uc010dfp.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	279					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GACGGGCACCGAGTGCTTCTC	0.617000									Kartagener syndrome					40			15		0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30536515	30536515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30536515G>A	uc002dyk.4	-	1	1122	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S	ZNF768_uc010vex.2_Missense_Mutation_p.P285S|ZNF768_uc010vew.2_Missense_Mutation_p.P285S	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	316					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CATTTGTAGGGCCGCTCGCCA	0.607000														76			6		0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74763927	74763927	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74763927C>T	uc002smp.1	-	4	893	c.821G>A	c.(820-822)gGg>gAg	p.G274E	LOXL3_uc002smo.1_Intron|LOXL3_uc010ffm.1_Missense_Mutation_p.G274E|LOXL3_uc002smq.1_Intron|LOXL3_uc010ffn.1_Intron	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	274	SRCR 2.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TGCAGGGCCCCCCCCAGGGCA	0.642000														95			44		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832380	61832380	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61832380C>T	uc001jky.3	-	36	8597	c.8259G>A	c.(8257-8259)gaG>gaA	p.E2753E	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.	2753					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						GTAGCTTGCTCTCCTGTATTT	0.403000														132			48		0	0	1	0	0
PROCR	10544	broad.mit.edu	37	20	33764245	33764245	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33764245G>A	uc002xbt.3	+	2	781	c.597G>A	c.(595-597)acG>acA	p.T199T	EDEM2_uc010zuv.1_Intron	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	Homo sapiens protein C receptor, endothelial (PROCR), mRNA.	199					antigen processing and presentation|blood coagulation|immune response	MHC class I protein complex|integral to plasma membrane	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CGGAAAACACGAAAGGTATGA	0.547000														70			28		0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123513287	123513287	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123513287G>A	uc001pza.1	-	3	719	c.312C>T	c.(310-312)tcC>tcT	p.S104S	SCN3B_uc001pzb.1_Silent_p.S104S	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	104	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GCACAGTGATGGACACGTCCT	0.567000														65			23		0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39960881	39960881	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39960881C>T	uc002olo.4	+	16	1676	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	SUPT5H_uc002olp.4_Silent_p.F499F|SUPT5H_uc002olq.4_Silent_p.F495F|SUPT5H_uc002oln.4_Silent_p.F499F|SUPT5H_uc002olr.4_Silent_p.F499F|SUPT5H_uc002ols.1_Silent_p.F122F|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	499	KOW 3.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGAGAATTTCGTTATCCTGT	0.552000														122			52		0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30139662	30139662	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30139662G>A	uc010jrx.3	+	6	1413	c.934G>A	c.(934-936)Gac>Aac	p.D312N		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	312	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TCTCTCGGAAGACAGGAAGTC	0.652000														14			5		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2411133	2411133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:2411133G>A	uc002wfy.1	+	10	1781	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K	TGM6_uc010gal.1_Missense_Mutation_p.E574K	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	574					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TAAGTATAAAGAAGACCTGAC	0.458000														96			42		0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22310278	22310278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22310278C>T	uc001bfk.3	+	4	569	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	CELA3B_uc009vqf.3_Intron	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	152	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TGACATCCTTCCCAACGAGAC	0.622000														107			33		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	432714	432714	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:432714G>A	uc003bot.3	+	21	3305	c.2663G>A	c.(2662-2664)gGa>gAa	p.G888E	CHL1_uc003bou.3_Missense_Mutation_p.G872E|CHL1_uc003bow.2_Missense_Mutation_p.G872E|CHL1_uc011asi.2_Missense_Mutation_p.G888E	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	872	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGATTTTCAGGACAAAGAAAC	0.363000														69			31		0	0	1	0	0
EMCN	51705	broad.mit.edu	37	4	101396232	101396232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:101396232C>T	uc003hvr.3	-	2	401	c.222G>A	c.(220-222)ctG>ctA	p.L74L	EMCN_uc011cel.2_Silent_p.L74L|EMCN_uc011cem.2_Silent_p.L74L	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN	Homo sapiens endomucin (EMCN), transcript variant 1, mRNA.	74	Thr-rich.					extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		CTGTTGACATCAGAGACATTT	0.229000														58			7		0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35860728	35860728	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:35860728C>T	uc002xgp.3	+	13	1915	c.1611C>T	c.(1609-1611)ccC>ccT	p.P537P	RPN2_uc002xgq.3_Silent_p.P505P	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	537					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				AGAAGAGGCCCCCCACCGTGG	0.572000														179			39		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626796	108626796	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:108626796C>T	uc002tdv.3	+	8	1498	c.1222C>T	c.(1222-1224)Ctc>Ttc	p.L408F	SLC5A7_uc010ywm.2_Missense_Mutation_p.L161F|SLC5A7_uc010fjj.3_Missense_Mutation_p.L408F|SLC5A7_uc010ywn.2_Missense_Mutation_p.L295F	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	408					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GCTCTGGTACCTCAGTTCTGA	0.473000														90			16		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858321	9858321	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:9858321G>A	uc010uym.2	-	13	3390	c.3080C>T	c.(3079-3081)tCc>tTc	p.S1027F	GRIN2A_uc002czo.4_Missense_Mutation_p.S1027F|GRIN2A_uc010uyn.2_Missense_Mutation_p.S870F|GRIN2A_uc002czr.4_Missense_Mutation_p.S1027F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1027					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGATTCTGGGATAGTGAATC	0.542000														123			18		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41583305	41583305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:41583305C>T	uc003xok.3	-	5	670	c.586G>A	c.(586-588)Gac>Aac	p.D196N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.D196N|ANK1_uc003xoj.3_Missense_Mutation_p.D196N|ANK1_uc003xol.3_Missense_Mutation_p.D196N|ANK1_uc003xom.3_Missense_Mutation_p.D229N	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	196	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGGTTGGGGTCGTTCTGCAGC	0.716000														13			7		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233372591	233372591	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233372591C>T	uc001hvl.2	-	9	2593	c.2358_splice	c.e9+1	p.R786_splice	PCNXL2_uc009xfu.3_Splice_Site|PCNXL2_uc009xfv.1_Splice_Site|PCNXL2_uc001hvq.1_Splice_Site_p.R85_splice	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	786						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)				ATGTACGTACCCGTGGGGTTT	0.507000														160			38		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45706614	45706614	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:45706614G>A	uc002zei.2	+	2	434	c.307_splice	c.e2+1	p.D103_splice		NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	103	HSR.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CTTCCCCAAAGGTGGGTCCTG	0.637000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					68			23		0	0	1	0	0
NEURL	9148	broad.mit.edu	37	10	105330819	105330819	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105330819C>T	uc001kxh.3	+	1	686	c.276C>T	c.(274-276)gcC>gcT	p.A92A	NEURL_uc021pxn.1_Silent_p.A75A	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	92	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TCTGCAACGCCATCACCTTCA	0.662000														57			22		0	0	1	0	0
RNF180	285671	broad.mit.edu	37	5	63509401	63509401	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:63509401G>A	uc003jti.3	+	3	358	c.248G>A	c.(247-249)gGa>gAa	p.G83E	RNF180_uc003jth.4_Missense_Mutation_p.G83E|RNF180_uc010iws.3_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	Homo sapiens ring finger protein 180 (RNF180), transcript variant 1, mRNA.	83						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		TGGACAGTTGGAAAACTGAAT	0.418000														183			80		0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29938169	29938169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:29938169G>A	uc004dby.2	+	7	1523	c.1015G>A	c.(1015-1017)Gga>Aga	p.G339R		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	339	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGTTGAAAATGGAAATGGACG	0.433000														25			42		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8471043	8471043	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:8471043C>T	uc003zkk.3	-	30	4199	c.3456G>A	c.(3454-3456)ggG>ggA	p.G1152G	PTPRD_uc003zkp.3_Silent_p.G741G|PTPRD_uc003zkq.3_Silent_p.G741G|PTPRD_uc003zkr.3_Silent_p.G736G|PTPRD_uc003zks.3_Silent_p.G731G|PTPRD_uc022bdj.1_Silent_p.G738G	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1152					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1151H(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGATAAATTTCCCGCGAGATT	0.368000										TSP Lung(15;0.13)				121			13		0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71740870	71740870	+	Silent	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:71740870G>C	uc002llf.2	-	9	1439	c.1359C>G	c.(1357-1359)ccC>ccG	p.P453P	FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Silent_p.P377P	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	377										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AGCTGTCAGAGGGTGTGGCAG	0.522000														212			63		0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573347	136573347	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:136573347G>A	uc003erf.4	+	1	259	c.45G>A	c.(43-45)gtG>gtA	p.V15V	SLC35G2_uc003erg.4_Silent_p.V15V|SLC35G2_uc010hub.3_Silent_p.V15V|SLC35G2_uc021xem.1_Silent_p.V15V	NM_001097600	NP_079522	Q8TBE7	TMM22_HUMAN	Homo sapiens transmembrane protein 22 (TMEM22), transcript variant 3, mRNA.	15						Golgi apparatus|integral to membrane											AAAAACGGGTGAAAATACATC	0.328000														149			73		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53975609	53975609	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:53975609C>T	uc001cvr.1	-	7	2017	c.1450G>A	c.(1450-1452)Ggg>Agg	p.G484R		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	484	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGCTGGCCCCCCGGAGAATGG	0.692000														14			3		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126746129	126746129	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:126746129G>A	uc003kuh.4	+	9	1328	c.966G>A	c.(964-966)gaG>gaA	p.E322E	MEGF10_uc010jdc.1_Silent_p.E322E|MEGF10_uc010jdd.1_Silent_p.E322E|MEGF10_uc003kui.4_Silent_p.E322E	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	322	EGF-like 6.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TCTGTGCTGAGACCTGCCAGT	0.562000														42			17		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44684879	44684879	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44684879G>A	uc010zxl.1	+	21	3023	c.2947G>A	c.(2947-2949)Gct>Act	p.A983T	SLC12A5_uc002xrb.2_Missense_Mutation_p.A960T	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	983					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGAAGAGACGGCTGGTGACAG	0.577000														54			26		0	0	1	0	0
PELO	53918	broad.mit.edu	37	5	52096834	52096834	+	Silent	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:52096834A>T	uc003jos.3	+	1	1591	c.606A>T	c.(604-606)gtA>gtT	p.V202V	ITGA1_uc003jou.3_Intron|ITGA1_uc003jov.3_Intron	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN	Homo sapiens pelota homolog (Drosophila) (PELO), mRNA.	202					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				TTGATGTTGTAAAGTGCATCC	0.517000														78			41		0	0	1	0	0
C14orf49	161176	broad.mit.edu	37	14	95932532	95932532	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:95932532G>A	uc001yei.4	-	2	378	c.363C>T	c.(361-363)gcC>gcT	p.A121A	C14orf49_uc010avi.3_Silent_p.A121A|C14orf49_uc001yej.1_Silent_p.A121A	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	121					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding	p.A121A(2)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		ACTCATCTCGGGCCAGCAGGT	0.617000														102			19		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142569570	142569571	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142569570_142569571GG>AA	uc003wbx.2	-	14	2296_2297	c.2067_2068CC>TT	c.(2065-2070)tcccgc>tcTTgc	p.R690C	TRPV6_uc003wbw.1_Missense_Mutation_p.R476C|TRPV6_uc010lou.1_Missense_Mutation_p.R561C	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	690					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	p.R690C(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GCACTGCTGCGGGAGGTACTTC	0.569000														54			13		0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173596232	173596232	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:173596232C>T	uc001gja.1	-	3	624	c.563G>A	c.(562-564)gGa>gAa	p.G188E		NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	204										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TTTCCCTGATCCCTTTTCTGT	0.358000														114			31		0	0	1	0	0
SYT8	90019	broad.mit.edu	37	11	1856416	1856416	+	Silent	SNP	C	T	T	rs144532203	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1856416C>T	uc001lue.1	+	1	251	c.123C>T	c.(121-123)gtC>gtT	p.V41V	SYT8_uc010qxb.1_Silent_p.V27V|SYT8_uc001lud.2_Silent_p.V41V|SYT8_uc009ydb.2_Silent_p.V27V	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	Homo sapiens synaptotagmin VIII (SYT8), mRNA.	41						acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGACCTTGTCGCCGGGACCC	0.622000														46			26		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2884530	2884530	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:2884530C>T	uc010ckd.3	+	9	807	c.717C>T	c.(715-717)gtC>gtT	p.V239V	RAP1GAP2_uc010cke.3_Silent_p.V224V	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	239					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TCAATCCTGTCCTGTACCCCA	0.527000														10			8		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21954013	21954013	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21954013C>T	uc001rfh.3	-	37	4635	c.4615G>A	c.(4615-4617)Gga>Aga	p.G1539R		NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1539	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCAAATACTCCATTTTCCTGA	0.378000														56			17		0	0	1	0	0
CLRN3	119467	broad.mit.edu	37	10	129681992	129681992	+	Missense_Mutation	SNP	G	A	A	rs141771225		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:129681992G>A	uc001lka.1	-	1	540	c.377C>T	c.(376-378)cCg>cTg	p.P126L	CLRN3_uc001ljz.1_Missense_Mutation_p.P58L	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	Homo sapiens clarin 3 (CLRN3), mRNA.	126						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				CACCCCCGTCGGCCCCAGGAA	0.572000														66			28		0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120992561	120992561	+	Missense_Mutation	SNP	C	T	T	rs138704590		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:120992561C>T	uc001typ.4	+	3	1078	c.595C>T	c.(595-597)Cat>Tat	p.H199Y	RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Missense_Mutation_p.H105Y	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	199					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTACACAGCTCATTTTGCTGA	0.428000														149			40		0	0	1	0	0
DENND1B	163486	broad.mit.edu	37	1	197522230	197522230	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197522230G>A	uc021pgu.1	-	15	1500	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	DENND1B_uc010ppf.2_Intron|DENND1B_uc001guf.3_Nonsense_Mutation_p.R388*|DENND1B_uc001gue.3_Nonsense_Mutation_p.R358*	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	388	dDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	p.R358*(1)|p.R388*(1)|p.R28*(1)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TTTGCCAGTCGACCATCGATA	0.299000														75			9		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139197070	139197070	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:139197070G>A	uc003leu.1	+	4	1226	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	341	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)			TGGCAGCAACGAGTTTAGCAG	0.587000														56			26		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151166599	151166599	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151166599C>T	uc011bod.2	-	3	1170	c.1170G>A	c.(1168-1170)agG>agA	p.R390R		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	390					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAAGTGGCTCCTTTCTAGTA	0.413000														34			28		0	0	1	0	0
SOHLH1	402381	broad.mit.edu	37	9	138587048	138587048	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:138587048G>A	uc010nbe.3	-	5	784	c.723C>T	c.(721-723)ccC>ccT	p.P241P	SOHLH1_uc004cgl.3_Silent_p.P241P	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	241					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GCCAGGACAGGGGTGGCCTCA	0.692000														13			4		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63019376	63019376	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:63019376G>A	uc002alb.4	+	24	3346	c.3346G>A	c.(3346-3348)Gaa>Aaa	p.E1116K		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1116	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCAAGGCAACGAACACTACAC	0.562000														49			7		0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170278	90170278	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:90170278G>A	uc003hsm.1	-	1	1503	c.984C>T	c.(982-984)gtC>gtT	p.V328V	GPRIN3_uc021xqb.1_Silent_p.V328V	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	328								p.V328G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ATCTGCTCTCGACACTCGCCA	0.527000														93			42		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2946452	2946452	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:2946452C>T	uc003smv.3	-	24	3619	c.3285G>A	c.(3283-3285)acG>acA	p.T1095T		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	1095	Guanylate kinase-like.				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	p.R1094H(1)		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)		ACTCCTCCTCCGTCTCAGGTC	0.682000			Mis		DLBCL									24			16		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529732	5529732	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5529732G>A	uc021qcw.1	-	0	1057	c.1057C>T	c.(1057-1059)Ccc>Tcc	p.P353S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.P353S	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	353										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGACTGGGGGTTCTCGTGT	0.498000														96			46		0	0	1	0	0
PANX2	56666	broad.mit.edu	37	22	50615655	50615655	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50615655C>T	uc003bjn.4	+	1	514	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	PANX2_uc003bjp.4_Missense_Mutation_p.R38C|PANX2_uc003bjo.4_Missense_Mutation_p.R172C	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	172					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GGCCGAGGGCCGCGCGCCCAA	0.662000														17			7		0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103032170	103032171	+	Silent	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:103032170_103032171GG>AA	uc003vbz.3	-	10	1393_1394	c.1131_1132CC>TT	c.(1129-1134)gccctg>gcTTtg	p.377_378AL>AL	SLC26A5_uc003vbt.2_Silent_p.377_378AL>AL|SLC26A5_uc003vbu.2_Silent_p.377_378AL>AL|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Silent_p.377_378AL>AL	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	377					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CACAGTCCCAGGGCAATGAGCT	0.436000														26			5		0	0	1	0	0
CRTAM	56253	broad.mit.edu	37	11	122720888	122720888	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:122720888C>T	uc001pyj.3	+	1	159	c.159C>T	c.(157-159)ccC>ccT	p.P53P		NM_019604	NP_062550	O95727	CRTAM_HUMAN	Homo sapiens cytotoxic and regulatory T cell molecule (CRTAM), mRNA.	53	Ig-like V-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGCTGACCCCCTCAGGGTTCA	0.483000														81			24		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644608	169644608	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:169644608A>T	uc003fgd.3	+	5	825	c.558A>T	c.(556-558)aaA>aaT	p.K186N	SAMD7_uc003fge.3_Missense_Mutation_p.K186N|SAMD7_uc011bpo.2_Missense_Mutation_p.K87N	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	186										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GACTCAGGAAAAATACAGGGA	0.483000														74			29		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100127991	100127991	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:100127991C>T	uc003yiv.3	+	6	937	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	VPS13B_uc003yiw.3_Missense_Mutation_p.R276C|VPS13B_uc003yit.3_Missense_Mutation_p.R276C|VPS13B_uc003yiu.1_Missense_Mutation_p.R276C|VPS13B_uc003yis.3_Missense_Mutation_p.R276C|VPS13B_uc011lgy.2_Missense_Mutation_p.R152C	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	276					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)			TATGTTTATTCGTATAATGCA	0.333000														93			10		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31286972	31286972	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31286972C>T	uc002ebr.3	+	8	1059	c.961C>T	c.(961-963)Ctg>Ttg	p.L321L	ITGAM_uc002ebq.3_Silent_p.L321L|ITGAM_uc010cam.1_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	321	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTTTGAGGCTCTGAAGACCAT	0.557000														57			5		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81697756	81697756	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:81697756G>A	uc001kbh.3	-	7	1023	c.980C>T	c.(979-981)cCc>cTc	p.P327L		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	327	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CTCTCCTGTGGGGTAGGTGAA	0.572000														196			75		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468850	10468850	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10468850G>A	uc003wtc.3	-	3	2987	c.2758C>T	c.(2758-2760)Cgg>Tgg	p.R920W		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	920					intracellular signal transduction			p.R920R(1)		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)		GACAGCCCCCGAGACCCCGCA	0.706000														32			4		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233807177	233807177	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233807177C>T	uc010pxo.1	+	2	1080	c.912C>T	c.(910-912)atC>atT	p.I304I		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	304						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCTCCTCGATCACAGACCAGG	0.488000														66			8		0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59947646	59947646	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:59947646C>T	uc002lil.3	+	22	3236	c.3021C>T	c.(3019-3021)gcC>gcT	p.A1007A	KIAA1468_uc010xel.2_Intron|KIAA1468_uc002lim.3_Intron	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	1007							binding	p.P1006S(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTGCTCCGGCCCTTGTTACCT	0.438000														133			27		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50850753	50850753	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:50850753C>T	uc021vhh.1	-	5	1754	c.833_splice	c.e5-1	p.G278_splice	NRXN1_uc002rxb.4_Splice_Site|NRXN1_uc021vhg.1_Splice_Site_p.G311_splice|NRXN1_uc021vhi.1_Splice_Site_p.G307_splice|NRXN1_uc021vhj.1_Splice_Site_p.G274_splice|NRXN1_uc002rxc.1_Splice_Site	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	278					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTCTTCTTTTCCTAGAGGAAA	0.363000														21			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8997177	8997177	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8997177G>A	uc002mkp.3	-	59	41223	c.41019C>T	c.(41017-41019)tcC>tcT	p.S13673S	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.S490S|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13675	SEA 11.			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						TCTTGAACAGGGACCTGAGCT	0.587000														67			25		0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746607	77746607	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:77746607G>A	uc002snr.3	-	2	803	c.388C>T	c.(388-390)Cac>Tac	p.H130Y	LRRTM4_uc002snq.3_Missense_Mutation_p.H130Y|LRRTM4_uc002sns.2_Missense_Mutation_p.H130Y|LRRTM4_uc002snt.2_Missense_Mutation_p.H131Y	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	130						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGAACTGGGTGAAATGTTTTA	0.388000														44			36		0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64055334	64055334	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64055334C>T	uc010rni.2	+	4	751	c.723C>T	c.(721-723)ttC>ttT	p.F241F	GPR137_uc010rnj.2_Silent_p.F183F|GPR137_uc001nze.2_Silent_p.F183F|GPR137_uc001nzf.3_Silent_p.F183F|GPR137_uc001nzh.2_Silent_p.F183F|GPR137_uc001nzi.3_Silent_p.F183F|GPR137_uc021qkt.1_Silent_p.F183F	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	183						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						ACTCCCTGTTCGTCATCTGCG	0.662000														49			21		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72509694	72509694	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72509694G>A	uc001jrg.3	+	15	2389	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	ADAMTS14_uc001jrh.3_Missense_Mutation_p.E794K	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	794	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGATGCCAAGGAAAGCCTCAA	0.642000														63			13		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169201675	169201675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169201675C>T	uc003irp.3	-	13	2081	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	597							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)		TTTTGCTCTTCCTTTTGTTCT	0.363000														51			16		0	0	1	0	0
TRIM72	493829	broad.mit.edu	37	16	31235609	31235609	+	Missense_Mutation	SNP	G	A	A	rs112486041		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31235609G>A	uc002ebn.2	+	6	1251	c.967G>A	c.(967-969)Gag>Aag	p.E323K	TRIM72_uc002ebp.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.	323	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GCCGGCCGGGGAGGACCCGCG	0.706000														20			9		0	0	1	0	0
CLUL1	27098	broad.mit.edu	37	18	641370	641370	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:641370G>A	uc010wys.2	+	8	1428	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	CLUL1_uc002kkp.3_Silent_p.A346A|CLUL1_uc002kkq.3_Silent_p.A346A	NM_199167	NP_954636	Q15846	CLUL1_HUMAN	Homo sapiens clusterin-like 1 (retinal) (CLUL1), transcript variant 2, mRNA.	346					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TAGACGAGGCGATCAGGTTGG	0.493000														81			21		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900098	151900098	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151900098C>T	uc022chj.1	-	0	703	c.703G>A	c.(703-705)Gag>Aag	p.E235K	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.E235K|MAGEA12_uc022chi.1_Missense_Mutation_p.E235K|MAGEA12_uc004fgc.3_Missense_Mutation_p.E235K	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	235	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ACACTGTCCTCCCTCCCATCA	0.562000														69			86		0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223806250	223806250	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:223806250C>T	uc002vni.3	+	16	2492	c.2041C>T	c.(2041-2043)Cgt>Tgt	p.R681C	ACSL3_uc002vnj.3_Missense_Mutation_p.R681C	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	681					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	p.R681C(8)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AGTAAAAATTCGTTTGAGTCC	0.378000			T	ETV1	prostate									55			32		0	0	1	0	0
LRRC10	376132	broad.mit.edu	37	12	70003892	70003892	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70003892C>T	uc001svc.3	-	0	1051	c.727G>A	c.(727-729)Gag>Aag	p.E243K		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Homo sapiens leucine rich repeat containing 10 (LRRC10), mRNA.	243						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TCTGGCGTCTCCTCTGCCCAT	0.582000														63			15		0	0	1	0	0
PANX1	24145	broad.mit.edu	37	11	93911540	93911540	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:93911540C>T	uc001per.3	+	2	712	c.327C>T	c.(325-327)ttC>ttT	p.F109F	PANX1_uc001peq.3_Silent_p.F109F	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	Homo sapiens pannexin 1 (PANX1), mRNA.	109					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCAGTTTTTCCCCTACATCC	0.478000														64			15		0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173679074	173679074	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:173679074C>T	uc002uhv.4	+	3	552	c.365C>T	c.(364-366)cCc>cTc	p.P122L	RAPGEF4_uc002uhu.2_Missense_Mutation_p.P122L|RAPGEF4_uc010fqn.3_Missense_Mutation_p.P105L	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	122					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GACAACACACCCCGCCATGCA	0.517000														94			38		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155792079	155792079	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155792079G>A	uc001flz.2	-	3	983	c.886C>T	c.(886-888)Cat>Tat	p.H296Y	GON4L_uc001fly.1_Missense_Mutation_p.H296Y|GON4L_uc009wrh.1_Missense_Mutation_p.H296Y|GON4L_uc001fma.1_Missense_Mutation_p.H296Y|GON4L_uc001fmc.3_Missense_Mutation_p.H296Y|GON4L_uc001fmd.4_Missense_Mutation_p.H296Y|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Missense_Mutation_p.H124Y|GON4L_uc001fmf.3_5'Flank	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	296					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTACTCACATGAAGGATGTTT	0.418000														100			49		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21712328	21712328	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21712328G>A	uc002djh.3	+	9	961	c.960G>A	c.(958-960)agG>agA	p.R320R	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.R241R	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	320					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TTAACATGAGGAATACCTCCA	0.522000														46			17		0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51243806	51243806	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:51243806G>A	uc001wyi.3	-	6	718	c.527C>T	c.(526-528)tCt>tTt	p.S176F	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.S176F|NIN_uc001wyk.3_Missense_Mutation_p.S176F|NIN_uc001wyo.3_Missense_Mutation_p.S176F|NIN_uc001wyp.1_Missense_Mutation_p.S138F	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	176					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GGGAGGGGAAGATCCACTCTG	0.478000			T	PDGFRB	MPD									85			26		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21108367	21108367	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:21108367C>T	uc001iqi.3	-	19	2438	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	681					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTCAGCTGCTCCTGGTTTCGC	0.428000														153			84		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43414954	43414954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43414954C>T	uc002ovj.1	-	2	583	c.484G>A	c.(484-486)Gag>Aag	p.E162K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.E162K	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	163	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CGCACAGCCTCCATGACCTCC	0.542000														256			58		0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510379	56510379	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56510379G>A	uc010rjo.2	-	0	909	c.909C>T	c.(907-909)ctC>ctT	p.L303L		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGCTATAGATGAGAGGGTTGA	0.433000														92			37		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262462	140262462	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140262462G>A	uc003lif.2	+	0	609	c.609G>A	c.(607-609)gaG>gaA	p.E203E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.E203E|PCDHAC2_uc003lid.3_Silent_p.E203E	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	218	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.E202*(1)		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)			TGGACAGAGAGGAAATTCAGG	0.448000														98			8		0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370810	35370810	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:35370810G>A	uc001byc.3	-	0	175	c.175C>T	c.(175-177)Cct>Tct	p.P59S		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	59					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGCCCTTCAGGAGAAATGTGT	0.711000														7			3		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94316839	94316839	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:94316839C>T	uc011cdt.2	+	8	1585	c.1327C>T	c.(1327-1329)Cta>Tta	p.L443L	GRID2_uc011cdu.2_Silent_p.L348L	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	443					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.V442L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGGAGTGGTTCTACGTGTAGT	0.393000														84			33		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667199	157667199	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:157667199G>A	uc001fqz.4	-	5	867	c.575C>T	c.(574-576)cCt>cTt	p.P192L	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Intron|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Missense_Mutation_p.P192L|FCRL3_uc001frc.1_Missense_Mutation_p.P192L	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	192	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTCAGCACAGGATGTAGAAA	0.527000														68			11		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657106	143657106	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143657106C>T	uc003wds.1	+	0	87	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ATTTATTCTCCTCGGCCTGTC	0.453000														136			59		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053361	17053361	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:17053361C>T	uc011awc.2	+	2	2595	c.2499C>T	c.(2497-2499)ttC>ttT	p.F833F	PLCL2_uc011awd.2_Silent_p.F715F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	841	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGGATGAATTCATCGGCCAGT	0.468000														102			41		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753646	76753646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:76753646C>T	uc002lmt.3	+	1	1655	c.1655C>T	c.(1654-1656)tCc>tTc	p.S552F	SALL3_uc010dra.3_Missense_Mutation_p.S159F	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCAGCCGCTCCCCGCAGAGG	0.746000														18			4		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50744591	50744591	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:50744591C>T	uc002egm.1	+	3	874	c.769C>T	c.(769-771)Ctg>Ttg	p.L257L	NOD2_uc021tia.1_Silent_p.L89L|NOD2_uc010cbk.1_Silent_p.L230L|NOD2_uc002egl.1_Silent_p.L35L|NOD2_uc010cbl.1_Silent_p.L35L|NOD2_uc010cbm.1_Silent_p.L35L|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	257					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGAGAATGTCCTGGAGGTCTG	0.607000														33			6		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42490089	42490090	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42490089_42490090CC>TT	uc002osh.3	-	5	686_687	c.532_533GG>AA	c.(532-534)ggg>AAg	p.G178K	ATP1A3_uc010xwf.2_Missense_Mutation_p.G189K|ATP1A3_uc010xwg.2_Missense_Mutation_p.G148K|ATP1A3_uc002osg.3_Missense_Mutation_p.G178K|ATP1A3_uc010xwh.2_Missense_Mutation_p.G191K			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	178					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CACCAGGTCCCCGACCACCACC	0.629000														128			42		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47765425	47765425	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47765425G>A	uc003gxm.3	-	3	681	c.588C>T	c.(586-588)ttC>ttT	p.F196F	CORIN_uc011bzf.2_Silent_p.F57F|CORIN_uc011bzg.2_Silent_p.F129F|CORIN_uc011bzh.1_Silent_p.F196F|CORIN_uc011bzi.1_Silent_p.F196F|CORIN_uc003gxn.4_Silent_p.F196F	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	196	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TGCACTCAGGGAAGGCGAGGG	0.413000														26			8		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152534253	152534253	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152534253C>T	uc021vrb.1	-	31	3629	c.3600G>A	c.(3598-3600)atG>atA	p.M1200I	NEB_uc002txu.3_Missense_Mutation_p.M1200I|NEB_uc021vrc.1_Missense_Mutation_p.M1200I|NEB_uc010fnx.3_Missense_Mutation_p.M1200I|NEB_uc021vrd.1_Missense_Mutation_p.M1200I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1200					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAATGCCTTTCATCCAGTTGT	0.463000														268			88		0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105198317	105198317	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:105198317G>A	uc003pqu.1	-	19	2519	c.2242C>T	c.(2242-2244)Cga>Tga	p.R748*	HACE1_uc010kcy.1_Nonsense_Mutation_p.R230*|HACE1_uc010kcz.1_Nonsense_Mutation_p.R533*|HACE1_uc010kcx.1_Nonsense_Mutation_p.R157*|HACE1_uc003pqt.1_Nonsense_Mutation_p.R401*	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	748	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTTGTCATTCGAAGTTCAGTA	0.348000														20			14		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551584	1551584	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:1551584C>T	uc010gai.3	-	3	1050	c.951G>A	c.(949-951)gtG>gtA	p.V317V	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	317	Ig-like C1-type 2.				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						CACAGGTGTTCACCAGGAGCC	0.552000														135			17		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72049968	72049968	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:72049968C>T	uc021rkj.1	-	8	2313	c.1890G>A	c.(1888-1890)aaG>aaA	p.K630K	DACH1_uc021rkk.1_Silent_p.K482K|DACH1_uc021rkl.1_Silent_p.K428K	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	680	DACHbox-C.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCTTTAGCCTCTTTTGAACTA	0.333000														133			26		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142571444	142571444	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142571444C>T	uc003wbx.2	-	12	1774	c.1545G>A	c.(1543-1545)gaG>gaA	p.E515E	TRPV6_uc003wbw.1_Silent_p.E301E|TRPV6_uc010lou.1_Silent_p.E386E	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	515					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CCTCGGGGTCCTCTGTCTGGA	0.587000														140			15		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85500354	85500354	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:85500354C>T	uc001tac.3	+	14	3449	c.3338C>T	c.(3337-3339)tCt>tTt	p.S1113F	LRRIQ1_uc021rbo.1_Missense_Mutation_p.S991F	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1113										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CATGAATTGTCTCTTACTGGA	0.338000														83			25		0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64746706	64746706	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:64746706G>A	uc021qzu.1	-	1	383	c.383C>T	c.(382-384)cCa>cTa	p.P128L	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Missense_Mutation_p.P128L	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	128								p.F127F(1)		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)		ATGATGAAATGGAAATAGGAA	0.313000														46			15		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764593	92764593	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92764593G>A	uc003umh.1	-	4	1908	c.692C>T	c.(691-693)tCa>tTa	p.S231L	SAMD9L_uc003umj.1_Missense_Mutation_p.S231L|SAMD9L_uc003umi.1_Missense_Mutation_p.S231L|SAMD9L_uc010lfb.1_Missense_Mutation_p.S231L|SAMD9L_uc003umk.1_Missense_Mutation_p.S231L|SAMD9L_uc010lfc.1_Missense_Mutation_p.S231L|SAMD9L_uc010lfd.1_Missense_Mutation_p.S231L|SAMD9L_uc022ahh.1_Missense_Mutation_p.S231L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	231										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTGGTGCGTGAATTCATACA	0.438000														96			42		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2824232	2824232	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:2824232C>T	uc022aqr.1	-	57	9350	c.8960G>A	c.(8959-8961)gGa>gAa	p.G2987E	CSMD1_uc011kwj.2_Missense_Mutation_p.G2317E|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2988	Sushi 23.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GACAATCATTCCGTTGGTGGG	0.527000														17			4		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13793832	13793832	+	Silent	SNP	C	T	T	rs112594597		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13793832C>T	uc003jfd.2	-	48	8058	c.8016G>A	c.(8014-8016)acG>acA	p.T2672T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2672	AAA 3 (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)					CTATCTCATTCGTAACCTACA	0.423000									Kartagener syndrome					76			20		0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21903920	21903920	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:21903920G>A	uc001bet.3	+	11	1611	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	ALPL_uc010odo.2_Missense_Mutation_p.E397K|ALPL_uc010odp.2_Missense_Mutation_p.E375K|ALPL_uc010odn.2_Missense_Mutation_p.E400K|ALPL_uc001beu.4_Missense_Mutation_p.E452K	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	452			E -> K (in HOPS).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CCTGCGCCACGAGACCCACGG	0.687000														38			26		0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87392992	87392992	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:87392992C>T	uc003ydt.3	+	3	388	c.108C>T	c.(106-108)ttC>ttT	p.F36F	WWP1_uc010mai.3_5'UTR	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	36	C2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AGAACTGGTTCGGAACAGCAA	0.348000														38			9		0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19638318	19638318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:19638318C>T	uc002ykv.3	+	5	1176	c.785C>T	c.(784-786)tCa>tTa	p.S262L	CHODL_uc002ykr.3_Missense_Mutation_p.S221L|CHODL_uc002yks.3_Missense_Mutation_p.S221L|CHODL_uc021whr.1_Missense_Mutation_p.S221L|CHODL_uc002ykt.3_Nonsense_Mutation_p.Q187*|CHODL_uc002yku.3_Nonsense_Mutation_p.Q187*|CHODL_uc021whs.1_Missense_Mutation_p.S243L	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	262					muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		CTGTGGATTTCAAAGAGTACC	0.323000														62			27		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10409243	10409243	+	Missense_Mutation	SNP	G	A	A	rs142560385	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10409243G>A	uc002gmo.3	-	18	2154	c.2060C>T	c.(2059-2061)gCc>gTc	p.A687V	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	687	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATGCTCCATGGCACCTAAAAG	0.473000														54			7		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	402001	402001	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:402001G>A	uc003bot.3	+	11	1842	c.1200G>A	c.(1198-1200)agG>agA	p.R400R	CHL1_uc003bou.3_Silent_p.R384R|CHL1_uc003bow.2_Silent_p.R384R|CHL1_uc011asi.2_Silent_p.R400R	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	384	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.P399P(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCTTCCCCAGGGAAATCAGTT	0.378000														109			29		0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123152144	123152144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:123152144G>A	uc003vkn.3	-	1	828	c.251C>T	c.(250-252)tCa>tTa	p.S84L	IQUB_uc003vko.3_Missense_Mutation_p.S84L|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.S84L|IQUB_uc003vkq.2_Missense_Mutation_p.S84L	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	84								p.S84P(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTGTCTTGGTGATATAACCTC	0.398000														194			17		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206610599	206610599	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:206610599G>A	uc002vaw.3	+	9	2562	c.1771G>A	c.(1771-1773)Ggc>Agc	p.G591S	NRP2_uc002vau.3_Missense_Mutation_p.G591S|NRP2_uc002vav.3_Missense_Mutation_p.G591S|NRP2_uc002vax.3_Missense_Mutation_p.G591S|NRP2_uc002vay.3_Missense_Mutation_p.G591S	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	591	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGAGGTGCTGGGCTGTGACTG	0.612000														48			15		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227942792	227942792	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:227942792C>T	uc021vxr.1	-	24	1905	c.1804_splice	c.e24-1	p.G602_splice	COL4A4_uc021vxs.1_Splice_Site_p.G602_splice	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	602	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTCATGATCCCCCTGGGAATG	0.507000														22			14		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3084710	3084710	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:3084710G>A	uc003bpc.3	+	21	2900	c.2561G>A	c.(2560-2562)cGa>cAa	p.R854Q	CNTN4_uc003bpb.1_Missense_Mutation_p.R525Q|CNTN4_uc021wsg.1_Missense_Mutation_p.R854Q|CNTN4_uc003bpe.3_Missense_Mutation_p.R526Q|CNTN4_uc003bpf.3_Missense_Mutation_p.R525Q|CNTN4_uc003bpg.3_Missense_Mutation_p.R110Q	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	854	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGAAAAATACGAACAGTTGGA	0.383000														39			11		0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20767011	20767011	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20767011G>A	uc001vwt.3	-	4	641	c.584C>T	c.(583-585)tCt>tTt	p.S195F	TTC5_uc001vwu.3_Missense_Mutation_p.S52F	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	195					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CTGGCCAGTAGAGAAGTAAAG	0.423000														38			20		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73635884	73635884	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:73635884G>A	uc002avp.3	-	1	2045	c.1051C>T	c.(1051-1053)Ccc>Tcc	p.P351S		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	351					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TAGTCCACGGGGATGGAGGAA	0.527000														72			12		0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455863	5455864	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:5455863_5455864GG>AT	uc002mca.4	+	0	438_439	c.361_362GG>AT	c.(361-363)ggc>ATc	p.G121I		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	121						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGCGCTGTTCGGCGTCCCCCTG	0.683000														112			18		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222216	140222217	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140222216_140222217CC>TT	uc003lhs.2	+	0	1310_1311	c.1310_1311CC>TT	c.(1309-1311)gcc>gTT	p.A437V	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_uc003lhr.1_Missense_Mutation_p.A437V	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	451	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)			TCGCTGTGGGCCACCGCCAGCT	0.653000														33			31		0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310132	57310133	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57310132_57310133GG>AA	uc021qjh.1	+	0	19_20	c.17_18GG>AA	c.(16-18)ggg>gAA	p.G6E		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	6										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CAGAAGGAAGGGAAGCTCTCTG	0.599000														26			6		0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30134964	30134964	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30134964G>A	uc010jrx.3	+	1	872	c.393G>A	c.(391-393)agG>agA	p.R131R		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	131					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						ATCGTCTCAGGAGTCGACTGG	0.468000														70			16		0	0	1	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33052914	33052914	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33052914C>T	uc003ocu.2	+	2	668	c.552C>T	c.(550-552)atC>atT	p.I184I	HLA-DPB1_uc011dqo.2_Non-coding_Transcript|HLA-DPB1_uc011dqq.1_Silent_p.I80I	NM_002121	NP_002112	P04440	DPB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP beta 1 (HLA-DPB1), mRNA.	184	Beta-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CCTTCCAGATCCTGGTGATGC	0.562000														104			38		0	0	1	0	0
LAYN	143903	broad.mit.edu	37	11	111425979	111425979	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:111425979G>A	uc001plr.1	+	5	982	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	LAYN_uc001plp.1_Missense_Mutation_p.E208K|LAYN_uc010rwg.1_Missense_Mutation_p.E63K|LAYN_uc010rwh.2_Missense_Mutation_p.E64K	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	Homo sapiens layilin (LAYN), mRNA.	216						cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		AGAAACACAGGAAGAAGATGC	0.398000														39			18		0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50682527	50682527	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:50682527G>A	uc003tpi.2	-	8	1081	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	GRB10_uc003tph.3_Silent_p.F287F|GRB10_uc003tpj.2_Silent_p.F299F|GRB10_uc003tpk.2_Silent_p.F345F|GRB10_uc010kzb.2_Silent_p.F287F|GRB10_uc003tpl.2_Silent_p.F339F|GRB10_uc003tpm.2_Silent_p.F287F	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	345	PH.				insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CGATCAGGGAGAAGATGTTGC	0.572000									Russell-Silver syndrome					113			27		0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087963	49087963	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49087963G>A	uc001rsd.4	-	8	1357	c.1034C>T	c.(1033-1035)cCt>cTt	p.P345L	CCNT1_uc009zkz.2_Missense_Mutation_p.P60L|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	345					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						ACCCTGAGTAGGTTCTAGTTT	0.473000														76			32		0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28620128	28620128	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:28620128C>T	uc002dqn.3	-	4	914	c.322G>A	c.(322-324)Ggg>Agg	p.G108R	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.G17R|SULT1A1_uc002dqi.3_Missense_Mutation_p.G17R|SULT1A1_uc002dqk.3_Missense_Mutation_p.G17R|SULT1A1_uc002dql.3_Missense_Mutation_p.G17R|SULT1A1_uc002dqm.3_Intron|SULT1A1_uc002dqp.3_Missense_Mutation_p.G17R	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	17					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	p.T107A(1)		endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						AGCGGGACCCCCTTCACGTAC	0.637000														78			11		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6985585	6985585	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:6985585C>T	uc002knm.3	-	37	5531	c.5437G>A	c.(5437-5439)Gga>Aga	p.G1813R	LAMA1_uc010wzj.2_Missense_Mutation_p.G1289R	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1813	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATCCTCTTCCTTGGACAATG	0.418000														50			23		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49440321	49440321	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:49440321C>T	uc001jgi.3	-	9	1336	c.1005G>A	c.(1003-1005)ggG>ggA	p.G335G	FRMPD2_uc001jgh.3_Silent_p.G304G|FRMPD2_uc001jgj.3_Silent_p.G304G	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	335					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.G335V(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)		AATAGGATTTCCCTTTTTTGG	0.423000														21			12		0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56075728	56075728	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56075728G>A	uc010spr.2	+	0	399	c.190G>A	c.(190-192)Ggg>Agg	p.G64R		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	Homo sapiens methyltransferase like 7B (METTL7B), mRNA.	64							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						CCAGATAAAGGGGCTTACAGG	0.592000														24			9		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1513857	1513857	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:1513857G>A	uc003wpl.3	+	2	1096	c.999G>A	c.(997-999)caG>caA	p.Q333Q	DLGAP2_uc003wpm.3_Silent_p.Q333Q	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	412					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGGTACCTCAGGATGAGTGGG	0.507000														22			7		0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67155970	67155970	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:67155970C>T	uc001dcr.3	+	16	1758	c.1541C>T	c.(1540-1542)tCc>tTc	p.S514F	SGIP1_uc010opd.2_Missense_Mutation_p.S114F|SGIP1_uc001dcs.3_Missense_Mutation_p.S114F|SGIP1_uc001dct.3_Missense_Mutation_p.S114F|SGIP1_uc009wat.3_Missense_Mutation_p.S308F	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	514					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCAACCAATTCCTTGAGCGCA	0.468000														175			68		0	0	1	0	0
YTHDF3	253943	broad.mit.edu	37	8	64099987	64099987	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:64099987T>C	uc003xuy.3	+	4	1731	c.1415T>C	c.(1414-1416)tTt>tCt	p.F472S	YTHDF3_uc010lys.3_Missense_Mutation_p.F417S|YTHDF3_uc003xuz.3_Missense_Mutation_p.F417S|YTHDF3_uc003xva.3_Missense_Mutation_p.F417S|YTHDF3_uc011len.2_Missense_Mutation_p.F417S	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	Homo sapiens YTH domain family, member 3 (YTHDF3), mRNA.	473	YTH.											Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			AGTGGACATTTTTGTGGAGTG	0.443000														38			15		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533948	31533948	+	Missense_Mutation	SNP	G	A	A	rs145614024		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31533948G>A	uc003aka.3	-	3	943	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	272	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GGCTGCAGGCGAGCGAGGGGC	0.647000														59			19		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7649458	7649458	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7649458C>T	uc001qsz.3	-	4	1178	c.1050G>A	c.(1048-1050)tgG>tgA	p.W350*	CD163_uc001qta.3_Nonsense_Mutation_p.W350*|CD163_uc009zfw.2_Nonsense_Mutation_p.W350*	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	350	SRCR 3.				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						AATGCTTTCCCCATTCATGGT	0.423000														57			15		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77369707	77369707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:77369707G>A	uc002ffc.4	-	11	2224	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	ADAMTS18_uc010chc.1_Missense_Mutation_p.S190F|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S298F	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	602	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C601F(1)		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						ACATGTCCGGGAACATTCTGA	0.567000														172			76		0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233272030	233272030	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:233272030C>T	uc002vss.4	+	2	272	c.219C>T	c.(217-219)atC>atT	p.I73I		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	73					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CTGCCAGGATCCTAAAAGGGC	0.602000														51			26		0	0	1	0	0
PAPSS1	9061	broad.mit.edu	37	4	108608330	108608330	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:108608330G>A	uc003hyk.3	-	3	499	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	PAPSS1_uc011cfh.1_Intron	NM_005443	NP_005434	O43252	PAPS1_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPSS1), mRNA.	139					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GCATTGTTGCGATCCttaaaa	0.328000														48			26		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113538641	113538641	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:113538641G>A	uc003iau.3	-	5	2768	c.2557C>T	c.(2557-2559)Cag>Tag	p.Q853*	C4orf21_uc003iaw.3_Nonsense_Mutation_p.Q853*	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	853										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTTCCTTGCTGAAAGACAGTA	0.348000														77			24		0	0	1	0	0
FBXL21	26223	broad.mit.edu	37	5	135277500	135277500	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:135277500C>T	uc003lbc.3	+	5		c.1173C>T						Q9UKT6	FXL21_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA.						rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			large_intestine(5)|lung(4)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCAAACTGTCGTGATGGATT	0.318000														6			3		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41758775	41758775	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:41758775G>A	uc010ehj.3	+	15	2019	c.1829G>A	c.(1828-1830)cGa>cAa	p.R610Q	AXL_uc010ehk.3_Missense_Mutation_p.R601Q	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	610	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGTTCTGAACGAGAGAGCTTC	0.597000														92			21		0	0	1	0	0
UPK1B	7348	broad.mit.edu	37	3	118909895	118909895	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:118909895G>A	uc003ecc.3	+	4	501	c.412G>A	c.(412-414)Gat>Aat	p.D138N	UPK1B_uc011bix.2_Missense_Mutation_p.D58N|UPK1B_uc003ecd.3_Missense_Mutation_p.D130N	NM_006952	NP_008883	O75841	UPK1B_HUMAN	Homo sapiens uroplakin 1B (UPK1B), mRNA.	138					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		TCCAAACAATGATGACCAGTG	0.478000														255			122		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238045826	238045826	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:238045826G>A	uc001hym.3	-	11	1806	c.1519C>T	c.(1519-1521)Ctg>Ttg	p.L507L	LOC100130331_uc010pyc.2_Non-coding_Transcript	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	507					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)			GCCACCCACAGAACTTTCGAG	0.463000														101			34		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95372892	95372892	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95372892C>T	uc001kiu.4	+	0	548	c.410C>T	c.(409-411)cCa>cTa	p.P137L		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	137	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GTTGTGTTTCCATTGGACATT	0.527000														63			12		0	0	1	0	0
PDK2	5164	broad.mit.edu	37	17	48187418	48187418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48187418C>T	uc002iqc.3	+	10	1342	c.1181C>T	c.(1180-1182)cCc>cTc	p.P394L	PDK2_uc002iqb.3_Missense_Mutation_p.P330L|PDK2_uc021tzx.1_Missense_Mutation_p.P330L	NM_002611	NP_001186828	Q15119	PDK2_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 2 (PDK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	394					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						TGGTGTGTGCCCAGCACGGAG	0.672000									Autosomal Dominant Polycystic Kidney Disease					14			4		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88379651	88379651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:88379651C>T	uc001tam.1	-	10	1270	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	C12orf50_uc001tan.3_Missense_Mutation_p.E383K	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	368										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GGTTTGGGTTCCCTGTTAGCA	0.498000														98			30		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739797	38739797	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38739797G>A	uc003ciq.3	-	26	4914	c.4914C>T	c.(4912-4914)atC>atT	p.I1638I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1638					sensory perception	voltage-gated sodium channel complex		p.G1637A(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACATGTCGTCGATGCCAGCCT	0.552000														125			48		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650650	121650650	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:121650650C>T	uc003vjy.3	+	11	1945	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	PTPRZ1_uc011knt.2_Missense_Mutation_p.S517F|PTPRZ1_uc003vjz.3_Missense_Mutation_p.S517F	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	517					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AAAGATATTTCCTTGACTTCT	0.408000														80			31		0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58604792	58604792	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:58604792C>T	uc010tro.2	-	2	1597	c.1399G>A	c.(1399-1401)Gat>Aat	p.D467N	C14orf37_uc001xdc.3_Missense_Mutation_p.D429N|C14orf37_uc001xdd.3_Missense_Mutation_p.D429N|C14orf37_uc001xde.3_Missense_Mutation_p.D429N	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	429						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AACAGGGCATCGTTTTCCTTG	0.413000														84			16		0	0	1	0	0
GALC	2581	broad.mit.edu	37	14	88429746	88429746	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:88429746G>A	uc001xvt.3	-	9	1250	c.1143C>T	c.(1141-1143)acC>acT	p.T381T	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Silent_p.T358T|GALC_uc010tvx.2_Silent_p.T355T|GALC_uc010tvz.1_Silent_p.T325T|GALC_uc001xvu.2_Silent_p.T381T	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	381					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAATGATGATGGTGAGGTTCC	0.368000														101			32		0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350414	51350414	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51350414C>T	uc001zyy.3	-	2	643	c.543G>A	c.(541-543)cgG>cgA	p.R181R		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	181										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		ACTGGTTGTTCCGGTAGAGGA	0.468000														105			46		0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128186496	128186496	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:128186496G>A	uc002tol.3	+	8	1450	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	PROC_uc002tok.3_Missense_Mutation_p.A454T|PROC_uc010yzi.2_Missense_Mutation_p.A510T|PROC_uc010yzj.2_Missense_Mutation_p.A349T|PROC_uc010yzk.2_Missense_Mutation_p.A509T	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	454					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AGACAAGGAAGCCCCCCAGAA	0.577000														115			10		0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45009750	45009750	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:45009750G>A	uc003tmh.2	-	9	1365	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	MYO1G_uc003tmg.2_Silent_p.F169F|MYO1G_uc010kym.2_Silent_p.F292F|MYO1G_uc003tmi.1_Silent_p.F319F|MYO1G_uc022acj.1_5'Flank|MYO1G_uc003tmj.2_Silent_p.F169F	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	407	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						AGAACTGCTCGAAACTGGGGG	0.547000														16			8		0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94164787	94164787	+	Silent	SNP	C	T	T	rs146953436	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94164787C>T	uc003uni.4	+	7	1022	c.795C>T	c.(793-795)atC>atT	p.I265I	CASD1_uc003unh.2_Intron|CASD1_uc003unj.4_Silent_p.I265I	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	265						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGAAACCATCATGGAATCTT	0.338000														89			30		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32526727	32526728	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:32526727_32526728GG>AA	uc002yow.1	-	17	3480_3481	c.3008_3009CC>TT	c.(3007-3009)gcc>gTT	p.A1003V	TIAM1_uc011adk.1_Missense_Mutation_p.A1003V|TIAM1_uc011adl.1_Missense_Mutation_p.A943V	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1003					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGCAAAATGCGGCCACCTGTTC	0.584000														69			27		0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10876690	10876690	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:10876690C>T	uc003mzn.4	-	2	516	c.444G>A	c.(442-444)gcG>gcA	p.A148A	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	148					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GAAAAAAGATCGCGTTGCCAT	0.498000														47			14		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71892314	71892314	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71892314G>A	uc010fen.3	+	46	5338	c.5197G>A	c.(5197-5199)Gac>Aac	p.D1733N	DYSF_uc010fei.3_Missense_Mutation_p.D1711N|DYSF_uc010feh.3_Missense_Mutation_p.D1701N|DYSF_uc002sig.4_Missense_Mutation_p.D1680N|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.D1725N|DYSF_uc010fee.3_Missense_Mutation_p.D1715N|DYSF_uc010fef.3_Missense_Mutation_p.D1732N|DYSF_uc002sie.3_Missense_Mutation_p.D1694N|DYSF_uc010feo.3_Missense_Mutation_p.D1726N|DYSF_uc010fej.3_Missense_Mutation_p.D1702N|DYSF_uc010fel.3_Missense_Mutation_p.D1681N|DYSF_uc010fem.3_Missense_Mutation_p.D1716N|DYSF_uc002sif.3_Missense_Mutation_p.D1695N|DYSF_uc010fek.3_Missense_Mutation_p.D1712N|DYSF_uc010yqy.2_Missense_Mutation_p.D575N|DYSF_uc010yqz.2_Missense_Mutation_p.D455N	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1694						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCAGTGGCGGGACCAGCTCCG	0.562000														115			67		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122846208	122846208	+	Missense_Mutation	SNP	G	A	A	rs145694364		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:122846208G>A	uc003ieg.2	-	2	1215	c.1141C>T	c.(1141-1143)Cgt>Tgt	p.R381C	TRPC3_uc010inr.2_Missense_Mutation_p.R308C|TRPC3_uc003ief.2_Missense_Mutation_p.R308C|TRPC3_uc011cgl.1_Missense_Mutation_p.R45C	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	296					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AGTTTGACACGACTTAATGAA	0.428000														161			34		0	0	1	0	0
KLK2	3817	broad.mit.edu	37	19	51380010	51380010	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51380010G>A	uc002ptv.3	+	2	530	c.489G>A	c.(487-489)gaG>gaA	p.E163E	KLK2_uc010eog.3_Silent_p.E61E|KLK2_uc010yck.2_Silent_p.E163E|KLK2_uc002ptt.3_Non-coding_Transcript|KLK2_uc010ycl.2_Silent_p.E146E|KLK2_uc010ycm.2_Silent_p.E61E|KLK2_uc002ptu.3_Silent_p.E163E	NM_005551	NP_005542	P20151	KLK2_HUMAN	Homo sapiens kallikrein-related peptidase 2 (KLK2), transcript variant 1, mRNA.	163	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		TCGAACCAGAGGAGTGTACGC	0.642000			T	ETV4	prostate									34			11		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37029580	37029580	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:37029580G>A	uc004ddl.2	+	0	3149	c.3097G>A	c.(3097-3099)Gaa>Aaa	p.E1033K		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	1033										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGATGCATCGGAAGAAGATTA	0.393000														74			19		0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6964814	6964814	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6964814G>A	uc001mey.3	+	5	1242	c.654G>A	c.(652-654)ttG>ttA	p.L218L	ZNF215_uc010raw.2_Nonsense_Mutation_p.W174*|ZNF215_uc010rax.2_Intron|ZNF215_uc001mez.1_Silent_p.L218L	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	218	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GCCTTAAGTTGGAGAGTAAGA	0.343000														120			54		0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78383885	78383885	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:78383885G>A	uc001dic.4	+	4	671	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	NEXN_uc001dia.3_Missense_Mutation_p.R125Q|NEXN_uc009wcb.1_Missense_Mutation_p.R61Q|NEXN_uc001dib.4_Missense_Mutation_p.R61Q|NEXN_uc001did.1_Missense_Mutation_p.R49Q|NEXN_uc001dif.1_Missense_Mutation_p.R17Q	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	125	Glu-rich.				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)		GAGGAGGAACGAAAACGCAGA	0.363000														83			35		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76471399	76471399	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76471399C>T	uc010dhp.2	-	53	8597	c.8472G>A	c.(8470-8472)caG>caA	p.Q2824Q	DNAH17_uc002jvs.3_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGAGGGTGATCTGAAACACGT	0.587000														99			26		0	0	1	0	0
PNMA2	10687	broad.mit.edu	37	8	26365908	26365908	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:26365908G>A	uc022atc.1	-	0	364	c.364C>T	c.(364-366)Cga>Tga	p.R122*	PNMA2_uc003xez.2_Nonsense_Mutation_p.R122*	NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	Homo sapiens paraneoplastic antigen MA2 (PNMA2), mRNA.	122					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		cccagggctcgaaacataccc	0.527000														67			25		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25593852	25593852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:25593852C>T	uc002kwg.2	-	2	653	c.194G>A	c.(193-195)gGa>gAa	p.G65E	CDH2_uc010xbn.1_Missense_Mutation_p.G34E	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	65					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTTCTTTTTCCATTGCAGTT	0.358000														53			15		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179437688	179437688	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179437688G>A	uc001gmo.3	+	16	2296	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	AXDND1_uc001gmn.2_3'UTR|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.E595K	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	637										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GGAAATAGATGAAAAAATTAA	0.353000														67			29		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520541	33520541	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:33520541G>A	uc002hjd.2	-	0	872	c.786C>T	c.(784-786)ctC>ctT	p.L262L		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	262						integral to membrane											AGACCAAGGCGAGGATCCCCA	0.627000														70			29		0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52269605	52269605	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:52269605G>A	uc001ctc.4	-	21	2720	c.2398C>T	c.(2398-2400)Ctt>Ttt	p.L800F	NRD1_uc009vzb.3_Missense_Mutation_p.L495F|NRD1_uc001cte.3_Missense_Mutation_p.L668F|NRD1_uc001ctd.4_Missense_Mutation_p.L732F|NRD1_uc001ctf.2_Missense_Mutation_p.L732F|NRD1_uc010ong.1_Non-coding_Transcript	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	731					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTATGCGTAAGGATATTGACA	0.383000														47			5		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446723	226446723	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:226446723G>A	uc002voe.2	+	3	765	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	197								p.R197Q(2)									AAACCGAAGCGAAATCCGAAC	0.502000														196			71		0	0	1	0	0
GZMA	3001	broad.mit.edu	37	5	54405889	54405889	+	Missense_Mutation	SNP	G	A	A	rs147876051	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:54405889G>A	uc003jpm.3	+	4	705	c.668G>A	c.(667-669)cGa>cAa	p.R223Q		NM_006144	NP_006135	P12544	GRAA_HUMAN	Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.	223	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GGTGTTTTCCGAGGGGTCACT	0.483000														75			34		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47247066	47247066	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:47247066G>A	uc002ion.2	+	10	1736	c.1677G>A	c.(1675-1677)aaG>aaA	p.K559K	B4GALNT2_uc010wlt.1_Silent_p.K473K|B4GALNT2_uc010wlu.1_Silent_p.K499K	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	559					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			ACTACTTCAAGAACCATCTCC	0.522000														40			9		0	0	1	0	0
KRTAP19-5	337972	broad.mit.edu	37	21	31874201	31874201	+	Missense_Mutation	SNP	C	T	T	rs73186218	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:31874201C>T	uc011ada.2	-	0	208	c.208G>A	c.(208-210)Gga>Aga	p.G70R		NM_181611	NP_853642	Q3LI72	KR195_HUMAN	Homo sapiens keratin associated protein 19-5 (KRTAP19-5), mRNA.	70						intermediate filament	protein binding			endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CAATAAAATCCAGAGAATCCA	0.502000														124			41		0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106729593	106729593	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:106729593G>A	uc001tln.3	+	6	1123	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.	317										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TCAGAAAAAAGAATTACCAGA	0.388000														64			12		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106124613	106124613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106124613G>A	uc001kyh.3	+	3	697	c.563G>A	c.(562-564)cGa>cAa	p.R188Q		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	188										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAAACAGAGCGATCAAAAGAG	0.473000														47			25		0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75408420	75408420	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:75408420C>T	uc001jut.4	-	3	1142	c.990G>A	c.(988-990)acG>acA	p.T330T	SYNPO2L_uc001jus.4_Silent_p.T106T	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	330						cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CGGACTCACTCGTGGGGGGAA	0.607000														62			25		0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96076520	96076520	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:96076520C>T	uc001tei.3	-	6	1922	c.1473G>A	c.(1471-1473)tgG>tgA	p.W491*	NTN4_uc009ztf.3_Nonsense_Mutation_p.W491*|NTN4_uc009ztg.3_Nonsense_Mutation_p.W454*	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	491					axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GCGCATCCTCCCACTCCCAGG	0.463000														55			14		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122757604	122757604	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:122757604G>A	uc003vkm.3	-	13	1596	c.1571C>T	c.(1570-1572)tCa>tTa	p.S524L	SLC13A1_uc010lks.3_Missense_Mutation_p.S400L	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	524						integral to membrane|plasma membrane	sodium:sulfate symporter activity	p.S524L(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GAATGCAAATGAAGTACACAG	0.368000														67			30		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160094972	160094972	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160094972C>T	uc001fvc.3	+	6	809	c.677C>T	c.(676-678)tCc>tTc	p.S226F	ATP1A2_uc001fvb.2_Missense_Mutation_p.S226F|ATP1A2_uc010piz.1_Missense_Mutation_p.S71F|ATP1A2_uc001fvd.3_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	226					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAGACCCGCTCCCCCGAGTTC	0.552000														53			27		0	0	1	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144295145	144295145	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144295145G>A	uc003yxu.2	+	0	78	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 (GPIHBP1), mRNA.	1					cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCGGCGAGATGAAGGCGCTCG	0.662000														7			3		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15967683	15967683	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:15967683C>T	uc010lsu.3	-	9	1385	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	MSR1_uc003wwz.3_Missense_Mutation_p.E423K|MSR1_uc003wxa.3_Missense_Mutation_p.E360K	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	423	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATAGATGATTCTCTCCCAAAA	0.373000														85			49		0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43274922	43274922	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43274922G>A	uc002yzq.1	-	11	1500	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	PRDM15_uc002yzo.3_Silent_p.F134F|PRDM15_uc002yzp.3_Silent_p.F134F|PRDM15_uc002yzr.1_Silent_p.F134F	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	463	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGTCCTTCTGGAACACCTGAA	0.612000														29			9		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54395001	54395001	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54395001C>T	uc002qcq.1	+	5	885	c.603C>T	c.(601-603)atC>atT	p.I201I	PRKCG_uc010eqz.1_Silent_p.I201I|PRKCG_uc010yef.1_Silent_p.I201I|PRKCG_uc010yeg.1_Silent_p.I201I|PRKCG_uc010yeh.1_Silent_p.I88I|Mir_324_uc021vbc.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	201	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TGAAGCTCATCCCAGACCCTC	0.527000														118			41		0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111317719	111317719	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:111317719C>T	uc001trv.1	+	5	694	c.499C>T	c.(499-501)Cac>Tac	p.H167Y	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Missense_Mutation_p.H127Y|CCDC63_uc001trw.1_Missense_Mutation_p.H82Y	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	167										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GGTCACTGTTCACTTTGACAA	0.468000														128			44		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28478849	28478849	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:28478849G>A	uc001zbj.3	-	27	4418	c.4312C>T	c.(4312-4314)Cgc>Tgc	p.R1438C		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1438					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AACAACAAGCGACCGACCTCT	0.463000														67			29		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2808585	2808585	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:2808585G>A	uc010ckd.3	+	2	178	c.88G>A	c.(88-90)Gag>Aag	p.E30K	RAP1GAP2_uc010cke.3_Missense_Mutation_p.E30K	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	30					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGGAAGCAGGAGCTGGCCAA	0.592000														17			15		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269704	150269704	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150269704C>T	uc003whl.3	+	2	628	c.546C>T	c.(544-546)ttC>ttT	p.F182F	GIMAP4_uc011kuu.2_Silent_p.F43F|GIMAP4_uc011kuv.2_Silent_p.F196F	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	182							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGACATTTTCGGTGACCGCT	0.512000														92			44		0	0	1	0	0
INSL5	10022	broad.mit.edu	37	1	67263912	67263912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:67263912G>A	uc001dcw.3	-	1	230	c.192C>T	c.(190-192)tcC>tcT	p.S64S		NM_005478	NP_005469	Q9Y5Q6	INSL5_HUMAN	Homo sapiens insulin-like 5 (INSL5), mRNA.	64						extracellular region	hormone activity			breast(2)|endometrium(1)|lung(5)	8						GGAGCTGGAAGGAGTTTCCTG	0.478000														76			19		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76790610	76790610	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:76790610C>T	uc001jwn.1	+	17	6521	c.6028C>T	c.(6028-6030)Cat>Tat	p.H2010Y	KAT6B_uc001jwo.1_Missense_Mutation_p.H1718Y|KAT6B_uc001jwp.1_Missense_Mutation_p.H1827Y	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	2010	Interaction with RUNX1 and RUNX2.|Met-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CCACAGCAATCATGGCTATAT	0.507000														142			11		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50204093	50204093	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50204093C>T	uc010eng.3	+	4	750	c.434C>T	c.(433-435)tCc>tTc	p.S145F	CPT1C_uc002ppl.4_Missense_Mutation_p.S145F|CPT1C_uc002ppi.3_Missense_Mutation_p.S62F|CPT1C_uc002ppk.3_Missense_Mutation_p.S145F|CPT1C_uc010enh.3_Missense_Mutation_p.S145F|CPT1C_uc002ppj.3_Missense_Mutation_p.S145F|CPT1C_uc010ybc.1_Intron	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	145					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCCATGTCCTCCCCCACCAAG	0.622000														109			40		0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63173904	63173904	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:63173904G>A	uc002jfe.3	+	8	840	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	RGS9_uc021ubw.1_Missense_Mutation_p.E213K|RGS9_uc010dem.3_Missense_Mutation_p.E213K|RGS9_uc002jfd.3_Missense_Mutation_p.E213K	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	213					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CAATCCGAATGAAGTCAAGGT	0.493000														67			30		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50376884	50376884	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:50376884G>A	uc004dpe.2	-	3	2215	c.2189C>T	c.(2188-2190)cCa>cTa	p.P730L	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.P614L	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	730					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)					ATTATGCTCTGGAGACCATCT	0.552000														21			3		0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003966	57003966	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57003966C>T	uc001njo.3	-	0	962	c.513G>A	c.(511-513)ggG>ggA	p.G171G	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	171						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TCTCCAAGTCCCCGGTGGTGC	0.647000														45			18		0	0	1	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20077862	20077862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:20077862C>T	uc003wzp.3	+	13	1699	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	ATP6V1B2_uc003wzq.1_Non-coding_Transcript	NM_001693	NP_001684	P21281	VATB2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2), mRNA.	495					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytosol|endomembrane system|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		TGAAGAGAATCCCTCAGAGCA	0.463000														103			26		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11651035	11651035	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11651035G>A	uc002gne.3	+	31	6630	c.6562G>A	c.(6562-6564)Gat>Aat	p.D2188N	DNAH9_uc010coo.3_Missense_Mutation_p.D1482N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2188	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTCACAAATGATGAGCTCTT	0.522000														38			21		0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102290667	102290667	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:102290667C>T	uc001duf.2	-	3	638	c.567G>A	c.(565-567)gaG>gaA	p.E189E	OLFM3_uc001dug.2_Silent_p.E169E|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Silent_p.E94E|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	189						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CACCAATTTCCTCCTGAATAC	0.438000														52			9		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6712527	6712527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6712527C>T	uc002mfm.3	-	9	1173	c.1111G>A	c.(1111-1113)Gac>Aac	p.D371N		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	371					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACCATGAGGTCAAAGGGCATT	0.632000														144			30		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51261233	51261233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:51261233G>A	uc003tps.3	-	2	484	c.299C>T	c.(298-300)cCa>cTa	p.P100L	COBL_uc003tpr.4_Missense_Mutation_p.P100L|COBL_uc011kcl.2_Missense_Mutation_p.P100L|COBL_uc010kzc.3_Missense_Mutation_p.P100L|COBL_uc003tpt.3_Missense_Mutation_p.P100L|COBL_uc003tpp.4_5'Flank|COBL_uc003tpq.4_Missense_Mutation_p.P16L	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	100								p.P100T(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ATGGTGGGATGGATTCAGGTG	0.418000														83			7		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62758479	62758479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:62758479G>A	uc010ihh.3	+	6	1555	c.1382G>A	c.(1381-1383)gGa>gAa	p.G461E	LPHN3_uc003hcq.4_Missense_Mutation_p.G461E|LPHN3_uc003hcs.1_Missense_Mutation_p.G290E	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	461					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCAGTGTCAGGAAGAAGAAAC	0.542000														70			26		0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756928	248756928	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248756928G>A	uc010pzn.2	-	0	142	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			ATGTGGATCAGAAGTATCAAT	0.418000														80			29		0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98460836	98460836	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:98460836G>A	uc003upo.3	-	1	462	c.273C>T	c.(271-273)tcC>tcT	p.S91S	TMEM130_uc011kiq.2_Silent_p.S72S|TMEM130_uc011kir.2_Silent_p.S91S|TMEM130_uc003upn.3_Intron	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	91						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CACGGATGGTGGAGCTGAGAC	0.657000														63			8		0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17157559	17157559	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:17157559C>T	uc003wxm.3	-	13	2034	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	MTMR7_uc011kya.2_Missense_Mutation_p.E233K|MTMR7_uc011kyb.2_Missense_Mutation_p.E190K	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	599							protein tyrosine phosphatase activity	p.D598N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GCAGAATCTTCATCGCCTTGT	0.483000														125			9		0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050173	84050173	+	Silent	SNP	G	A	A	rs113073498	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84050173G>A	uc002fhg.1	-	7	1113	c.1113C>T	c.(1111-1113)atC>atT	p.I371I		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	371					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGATGCTGACGATCTCGCTGA	0.592000														61			16		0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8146431	8146431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:8146431G>A	uc002gkq.4	-	1	128	c.69C>T	c.(67-69)atC>atT	p.I23I	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	23					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGGTCTTTTGGATGAAGACCT	0.473000														22			15		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129276034	129276034	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:129276034C>T	uc003emx.2	-	33	5578	c.5478G>A	c.(5476-5478)aaG>aaA	p.K1826K	PLXND1_uc003emw.2_5'UTR|PLXND1_uc011blb.1_Silent_p.K495K	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1826					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CAGGAATCTCCTTGGCGTAGA	0.557000														74			25		0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1742181	1742181	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:1742181G>A	uc004cqd.3	+	2	435	c.219G>A	c.(217-219)ctG>ctA	p.L73L	ASMT_uc010ncy.3_Silent_p.L73L|ASMT_uc004cqe.3_Silent_p.L73L	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	73					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGAAGCTGCTGAAAGTGGAGA	0.592000														37			10		0	0	1	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021110	142021110	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142021110G>A	uc011krr.1	+	1	275	c.90G>A	c.(88-90)ctG>ctA	p.L30L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Silent_p.L30L					SubName: Full=V_segment translation product; Flags: Fragment;																		CAAGATATCTGATCAAAACGA	0.547000														40			12		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228137704	228137704	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228137704G>A	uc002vom.2	+	25	1960	c.1798G>A	c.(1798-1800)Gat>Aat	p.D600N	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	600	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TCCTCCAGGGGATCCTGGCTC	0.567000														58			22		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23899062	23899062	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23899062C>T	uc001wjx.3	-	11	1166	c.1060G>A	c.(1060-1062)Ggc>Agc	p.G354S		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	354	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G354G(2)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATGATGGCGCCTGTCAGCTTA	0.537000														102			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179395723	179395723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179395723C>T	uc021vsy.1	-	306	98140	c.97915G>A	c.(97915-97917)Gaa>Aaa	p.E32639K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E26334K|TTN_uc021vta.1_Missense_Mutation_p.E26267K|TTN_uc021vtb.1_Missense_Mutation_p.E26142K|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33566	Ig-like 144.						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)			TGTTTCCCTTCACTGTTTTCT	0.488000														291			131		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48556366	48556366	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:48556366C>T	uc003toq.2	+	51	13710	c.13686C>T	c.(13684-13686)tcC>tcT	p.S4562S	ABCA13_uc010kys.1_Silent_p.S1637S|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.S292S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4562					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAATCTTTTCCAGTTCGGACG	0.388000														173			59		0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30686936	30686936	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30686936C>T	uc002wxh.3	+	11	1613	c.1376C>T	c.(1375-1377)cCa>cTa	p.P459L	HCK_uc010gdy.3_Missense_Mutation_p.P439L|HCK_uc021wbv.1_Missense_Mutation_p.P438L|HCK_uc002wxi.3_Missense_Mutation_p.P437L	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	459	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATCCCTTACCCAGGTAGGGAA	0.542000														112			37		0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66829101	66829101	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:66829101C>T	uc001dcn.3	+	11	1322	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L	PDE4B_uc009war.3_Silent_p.L285L|PDE4B_uc001dco.3_Silent_p.L377L|PDE4B_uc001dcp.3_Silent_p.L362L|PDE4B_uc001dcq.3_Silent_p.L205L|PDE4B_uc009was.3_Silent_p.L144L	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	377					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	AAAGAGACCTCCTAAAGACAT	0.353000														49			16		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57136731	57136731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:57136731C>T	uc002lib.3	-	3	444	c.374G>A	c.(373-375)cGg>cAg	p.R125Q		NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	125					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CTCCCGCTTCCGGTGTCTCTC	0.537000														136			26		0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204129793	204129793	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:204129793G>A	uc001haq.2	-	3	431	c.387C>T	c.(385-387)ctC>ctT	p.L129L		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	129					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AAGCATCGAAGAGCTTGTGAT	0.552000														93			31		0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169690823	169690824	+	Nonsense_Mutation	DNP	GG	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169690823_169690824GG>AT	uc002ueg.3	+	6	758_759	c.492_493GG>AT	c.(490-495)aaggag>aaATag	p.E165*	NOSTRIN_uc002uef.3_Nonsense_Mutation_p.E165*|NOSTRIN_uc002ueh.3_Nonsense_Mutation_p.E87*|NOSTRIN_uc010fpu.3_Nonsense_Mutation_p.E137*	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	165					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TGACTGAGAAGGAGAAGCGGAA	0.460000														56			14		0	0	1	0	0
HMGB4	127540	broad.mit.edu	37	1	34329958	34329958	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34329958G>A	uc021oky.1	+	0	166	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.E56K|HMGB4_uc001bxq.3_5'UTR	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	56						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTCAAAGCATGAAAAGGCCAA	0.423000														109			48		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48416519	48416519	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48416519G>A	uc001jfa.1	-	0	335	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	59					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						ACGTTCTCCAGAAACATCTTC	0.607000														55			6		0	0	1	0	0
KLRD1	3824	broad.mit.edu	37	12	10462275	10462275	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10462275G>A	uc009zhi.3	+	2	411	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	KLRD1_uc001qxw.4_Missense_Mutation_p.E51K|KLRD1_uc001qxx.4_Missense_Mutation_p.E51K|KLRD1_uc001qxy.4_Missense_Mutation_p.E20K|KLRD1_uc009zhh.3_Intron|KLRD1_uc001qxz.4_Missense_Mutation_p.E51K			Q13241	KLRD1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily D, member 1 (KLRD1), transcript variant 1, mRNA.	51					cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						ACCCAACATAGAACTCCAGAA	0.333000														39			5		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240374523	240374523	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240374523G>A	uc010pye.2	+	6	4290	c.4065G>A	c.(4063-4065)acG>acA	p.T1355T	FMN2_uc010pyd.2_Silent_p.T1351T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1351	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCTCAAAGACGAAGGCTAAAC	0.338000														109			40		0	0	1	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130674663	130674663	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:130674663G>A	uc004bss.3	-	3	771	c.495C>T	c.(493-495)acC>acT	p.T165T	ST6GALNAC4_uc004bst.3_Silent_p.T81T	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.	165					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GCGTGCGGTAGGTGCGGCCGC	0.632000														62			22		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36216190	36216190	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:36216190C>T	uc021usv.1	+	10	3598	c.3598C>T	c.(3598-3600)Ccc>Tcc	p.P1200S	MLL2_uc021usu.1_Missense_Mutation_p.P14S	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	0					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCCAGGGGGCCCCCCGATGGT	0.597000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				20			11		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617990	37617990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:37617990C>T	uc002yvg.3	+	18	3791	c.3712C>T	c.(3712-3714)Cgg>Tgg	p.R1238W	DOPEY2_uc011aeb.2_Missense_Mutation_p.R1187W|DOPEY2_uc002yvh.3_Missense_Mutation_p.R89W	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1238					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						CTACGACTCTCGGCGGGTCCT	0.582000														38			19		0	0	1	0	0
SIRT5	23408	broad.mit.edu	37	6	13584380	13584380	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:13584380C>T	uc003nay.3	+	2	350	c.38C>T	c.(37-39)tCc>tTc	p.S13F	SIRT5_uc003naw.3_Missense_Mutation_p.S13F|SIRT5_uc003nax.3_5'UTR|SIRT5_uc011dit.2_Missense_Mutation_p.S13F	NM_012241	NP_001229756	Q9NXA8	SIRT5_HUMAN	Homo sapiens sirtuin 5 (SIRT5), transcript variant 1, mRNA.	13					chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	CGATTGATTTCCCAGCTATAT	0.453000														103			45		0	0	1	0	0
FCGR2B	2213	broad.mit.edu	37	1	161641278	161641278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161641278C>T	uc001gaz.2	+	2	357	c.230C>T	c.(229-231)cCt>cTt	p.P77L	FCGR2B_uc009wum.2_Missense_Mutation_p.P77L|FCGR2B_uc001gay.2_Missense_Mutation_p.P76L|FCGR2B_uc001gba.2_Missense_Mutation_p.P76L|FCGR2B_uc009wun.2_Missense_Mutation_p.P70L|FCGR2B_uc001gbb.2_Missense_Mutation_p.P77L	NM_004001	NP_003992	P31994	FCG2B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIb, receptor (CD32) (FCGR2B), transcript variant 1, mRNA.	77	Ig-like C2-type 1.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		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)	ACTCACAGCCCTGAGAGCGAC	0.582000			T	?	ALL									77			18		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201035010	201035010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201035010G>A	uc001gvv.3	-	21	3036	c.2809C>T	c.(2809-2811)Ctc>Ttc	p.L937F		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	937					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AACTGTAGGAGGGTAGTGACC	0.647000														24			10		0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124810341	124810341	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124810341C>T	uc003ehw.4	-	11	2020	c.1950G>A	c.(1948-1950)atG>atA	p.M650I	SLC12A8_uc003ehv.4_Missense_Mutation_p.M621I|SLC12A8_uc003eht.4_Missense_Mutation_p.M422I|SLC12A8_uc010hry.3_Intron	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	621					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						CAGCAACACCCATGTTAACCA	0.493000														59			12		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700713	136700713	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:136700713G>A	uc003vtf.1	+	3	1724	c.1101G>A	c.(1099-1101)aaG>aaA	p.K367K	CHRM2_uc003vtg.1_Silent_p.K367K|CHRM2_uc003vti.1_Silent_p.K367K|CHRM2_uc003vtm.1_Silent_p.K367K|CHRM2_uc003vtj.1_Silent_p.K367K|CHRM2_uc003vtk.1_Silent_p.K367K|CHRM2_uc003vtl.1_Silent_p.K367K|CHRM2_uc003vtn.1_Silent_p.K367K|CHRM2_uc003vto.1_Silent_p.K367K|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.K367K	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	367					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AGATTGTGAAGATGACTAAGC	0.473000														58			33		0	0	1	0	0
VRK3	51231	broad.mit.edu	37	19	50511003	50511003	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50511003G>A	uc002prg.2	-	4	468	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	VRK3_uc002prh.1_Nonsense_Mutation_p.Q124*|VRK3_uc002pri.1_Nonsense_Mutation_p.Q74*|VRK3_uc010ens.2_Nonsense_Mutation_p.Q124*|VRK3_uc010ybl.1_Nonsense_Mutation_p.Q74*|VRK3_uc010ybm.1_5'UTR|VRK3_uc002prk.2_Nonsense_Mutation_p.Q124*|VRK3_uc010ent.2_5'UTR|VRK3_uc002prl.3_Nonsense_Mutation_p.Q124*|VRK3_uc010ybn.1_Nonsense_Mutation_p.Q124*	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	Homo sapiens vaccinia related kinase 3 (VRK3), transcript variant 1, mRNA.	124						nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CTGGTCTTCTGAGGGCTACCC	0.602000														121			34		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2436319	2436319	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:2436319C>T	uc001aji.1	+	21	4189	c.3915C>T	c.(3913-3915)ctC>ctT	p.L1305L	PLCH2_uc010nyz.2_3'UTR|PLCH2_uc009vle.1_Silent_p.L1058L|PLCH2_uc001ajj.1_3'UTR|PLCH2_uc001ajk.1_3'UTR|PLCH2_uc001ajl.1_Silent_p.L158L	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	1306					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			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)		TGCGCTGGCTCACTGTCTTCC	0.711000														9			7		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44087626	44087626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44087626C>T	uc001cjr.3	+	33	6016	c.5676C>T	c.(5674-5676)taC>taT	p.Y1892Y	PTPRF_uc001cjs.3_Silent_p.Y1883Y|PTPRF_uc001cju.3_Silent_p.Y1281Y|PTPRF_uc009vwt.3_Silent_p.Y1452Y|PTPRF_uc001cjv.3_Silent_p.Y1363Y|PTPRF_uc001cjw.3_Silent_p.Y1118Y	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1892	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCTGTGCTACCGTGCGGCCC	0.652000														81			30		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55955503	55955503	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:55955503C>T	uc010qhy.1	-	11	1655	c.1260G>A	c.(1258-1260)tcG>tcA	p.S420S	PCDH15_uc010qhq.2_Silent_p.S420S|PCDH15_uc010qhr.2_Silent_p.S415S|PCDH15_uc021pqv.1_Silent_p.S415S|PCDH15_uc021pqw.1_Silent_p.S420S|PCDH15_uc010qht.2_Silent_p.S415S|PCDH15_uc021pqx.1_Silent_p.S415S|PCDH15_uc001jjv.1_Silent_p.S393S|PCDH15_uc021pqy.1_Silent_p.S415S|PCDH15_uc021pqz.1_Silent_p.S393S|PCDH15_uc010qhv.1_Silent_p.S415S|PCDH15_uc010qhw.1_Silent_p.S378S|PCDH15_uc010qhx.1_Silent_p.S415S|PCDH15_uc010qhz.1_Silent_p.S415S|PCDH15_uc010qia.1_Silent_p.S393S|PCDH15_uc001jju.1_Silent_p.S415S|PCDH15_uc010qib.1_Silent_p.S393S|PCDH15_uc001jjw.3_Silent_p.S415S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	415	Cadherin 4.				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)				TGAGACTGTCCGAAATGGTTG	0.368000										HNSCC(58;0.16)				77			31		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95132727	95132727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95132727G>A	uc001kin.3	-	23	2540	c.2417C>T	c.(2416-2418)tCt>tTt	p.S806F	MYOF_uc001kio.3_Missense_Mutation_p.S793F|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	806					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTATTTTCCAGATGCATTCTC	0.453000														134			10		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531760	50531760	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50531760G>A	uc021pqb.1	+	0	1170	c.1170G>A	c.(1168-1170)ggG>ggA	p.G390G	C10orf71_uc021pqa.1_Silent_p.G389G|C10orf71_uc021pqc.1_Silent_p.G390G	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	390										endometrium(1)	1						GCAAAAAAGGGAAAGAAAGTC	0.463000														85			28		0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135487632	135487632	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135487632G>A	uc004cbq.1	-	18	2303	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	DDX31_uc010mzu.1_Silent_p.S644S	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	717						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CTTGGATGAAGGACTGCAGAG	0.562000														54			9		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150696415	150696415	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150696415G>A	uc003wif.3	+	8	1390	c.1094G>A	c.(1093-1095)aGg>aAg	p.R365K	NOS3_uc011kuy.2_Missense_Mutation_p.R159K|NOS3_uc011kva.2_Missense_Mutation_p.R365K|NOS3_uc011kuz.2_Missense_Mutation_p.R365K|NOS3_uc011kvb.2_Missense_Mutation_p.R365K	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	365	Interaction with NOSIP.				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	p.T364T(1)		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)	ATCGGCACGAGGAACCTGTGT	0.627000														158			41		0	0	1	0	0
FANCG	2189	broad.mit.edu	37	9	35079515	35079515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35079515G>A	uc003zwb.1	-	0	499	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.R3C	NM_004629	NP_004620	O15287	FANCG_HUMAN	Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.	3					DNA repair|cell cycle checkpoint|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTGGTCTGGCGGGACATGGTG	0.662000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks						101			19		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29142037	29142037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29142037C>T	uc011dlm.2	+	0	727	c.625C>T	c.(625-627)Ctc>Ttc	p.L209F		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	209					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						CATTTTTGTTCTCATACCTCT	0.468000														114			34		0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109103252	109103252	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:109103252C>T	uc003kou.1	+	5	1815	c.852C>T	c.(850-852)tcC>tcT	p.S284S		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	284					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.S284S(2)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AACCTCGGTCCGGCTGGGCTA	0.388000														92			51		0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128445896	128445896	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:128445896G>A	uc003vnv.2	+	6	1446	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	CCDC136_uc003vnu.2_Missense_Mutation_p.E382K|CCDC136_uc003vnx.2_Missense_Mutation_p.E160K|CCDC136_uc010llq.2_5'UTR|CCDC136_uc003vny.2_5'Flank	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	344						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GCTGCAGAGGGAGCTCAAGTG	0.562000														28			15		0	0	1	0	0
SQLE	6713	broad.mit.edu	37	8	126015634	126015634	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:126015634G>A	uc011liq.2	+	1	1434	c.508G>A	c.(508-510)Ggt>Agt	p.G170S		NM_003129	NP_003120	Q14534	ERG1_HUMAN	Homo sapiens squalene epoxidase (SQLE), mRNA.	170					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	p.P169P(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	CCTGCAGCCGGGTGGTTATCA	0.443000														225			50		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901192	51901192	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:51901192C>T	uc002iua.2	+	0	954	c.798C>T	c.(796-798)ttC>ttT	p.F266F	KIF2B_uc010wna.1_Intron	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	266	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTTCTGCTTCGACCATGCCT	0.557000														69			5		0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435776	5435776	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:5435776G>A	uc001ihy.3	-	3	1083	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*	TUBAL3_uc001ihz.3_Nonsense_Mutation_p.Q309*	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	349					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TCTACAAACTGAACAGAGTGC	0.567000														40			23		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22922660	22922660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22922660G>A	uc001bfx.1	+	8	1884	c.1759G>A	c.(1759-1761)Gga>Aga	p.G587R		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	587						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTATCAGAATGGACAGGGTGA	0.652000														39			10		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10464881	10464881	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10464881C>T	uc003wtc.3	-	3	6956	c.6727G>A	c.(6727-6729)Gga>Aga	p.G2243R		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2243					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)		TGAGTTTCTCCTTCTGACTCT	0.602000														146			45		0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084214	31084214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31084214G>A	uc003nsm.2	-	1	1234	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	393	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						AGAACTGGAGGGAGAGCAGGG	0.642000														7			7		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345295	20345295	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20345295G>A	uc001vwh.1	+	0	869	c.869G>A	c.(868-870)aGg>aAg	p.R290K		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATACTTTGAGGAATCAAGAA	0.358000														60			20		0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275126	29275126	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29275126C>T	uc011dln.2	+	0	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TTCGCATCTTCTCTACAGTGC	0.468000														160			51		0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111394212	111394212	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:111394212C>T	uc003dya.3	+	0	690	c.120C>T	c.(118-120)ccC>ccT	p.P40P	PLCXD2_uc003dxz.3_Silent_p.P40P	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	40					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCTCGCTCCCCCCTCACCTCC	0.542000														105			35		0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160849133	160849133	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160849133C>T	uc001fxc.3	-	6	873	c.757G>A	c.(757-759)Gga>Aga	p.G253R		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	253	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACCCTCATTCCAGCACACAAG	0.502000														85			35		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176008478	176008478	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176008478G>A	uc021yie.1	+	16	2227	c.1953G>A	c.(1951-1953)gaG>gaA	p.E651E	CDHR2_uc003mem.2_Silent_p.E651E|CDHR2_uc003men.1_Silent_p.E651E	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	651	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGGACAGAGAGGCCATCGACC	0.622000														50			18		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121708823	121708823	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:121708823C>T	uc010flp.3	+	2	289	c.259C>T	c.(259-261)Cct>Tct	p.P87S	GLI2_uc010yyu.1_Missense_Mutation_p.P87S|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Missense_Mutation_p.P87S	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	87					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P86H(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTGCAGGCCCCCTGCCCTCAG	0.632000														236			36		0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72363848	72363848	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72363848C>T	uc021ucp.1	+	0	204	c.195C>T	c.(193-195)ctC>ctT	p.L65L	GPR142_uc010wqy.2_Silent_p.L68L	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	68						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GCTGGGACCTCCGAATAAGGC	0.552000														34			7		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55195914	55195914	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:55195914G>A	uc003jql.3	+	7	1215	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	IL31RA_uc003jqk.3_Silent_p.G341G|IL31RA_uc011cqj.2_Silent_p.G199G|IL31RA_uc003jqm.3_Silent_p.G322G|IL31RA_uc003jqn.3_Silent_p.G341G|IL31RA_uc010iwa.1_Silent_p.G309G|IL31RA_uc021xyq.1_Silent_p.G322G|IL31RA_uc003jqo.3_Silent_p.G199G	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	309	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)				ATTCTCTTGGGAAGTCTCCAG	0.453000														194			20		0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46143848	46143848	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:46143848G>A	uc001jcp.4	-	4	705	c.463C>T	c.(463-465)Cct>Tct	p.P155S	ZFAND4_uc001jcl.4_5'UTR|ZFAND4_uc001jcm.4_Missense_Mutation_p.P155S|ZFAND4_uc009xmu.3_Missense_Mutation_p.P81S|ZFAND4_uc001jcn.4_Missense_Mutation_p.P81S|ZFAND4_uc001jco.4_Missense_Mutation_p.P155S|ZFAND4_uc001jcq.2_Non-coding_Transcript	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	155							zinc ion binding										TCTACTGCAGGAAAGAAATTC	0.413000														162			20		0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207108834	207108834	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207108834C>T	uc001hez.3	-	4	1559	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	PIGR_uc009xbz.3_Missense_Mutation_p.E459K	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	459						extracellular region|integral to plasma membrane	protein binding	p.E459K(2)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTCCTACCTTCGATAATCTTG	0.567000											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		78			44		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35709136	35709136	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35709136C>T	uc003jjo.3	+	18	2863	c.2752C>T	c.(2752-2754)Cct>Tct	p.P918S	SPEF2_uc003jjq.4_Missense_Mutation_p.P913S|SPEF2_uc003jjp.1_Missense_Mutation_p.P404S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	918					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCTCCTGCTCCTCCTCCTGA	0.433000														85			27		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49006253	49006253	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49006253C>T	uc002pjk.3	-	7	645	c.645_splice	c.e7-1	p.R215_splice		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCTGCAGGCTCCTGTGGAGTG	0.587000														28			4		0	0	1	0	0
EHF	26298	broad.mit.edu	37	11	34680082	34680082	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:34680082C>T	uc021qfu.1	+	7	802	c.676C>T	c.(676-678)Ccg>Tcg	p.P226S	EHF_uc001mvr.2_Missense_Mutation_p.P204S|EHF_uc009yke.2_Missense_Mutation_p.P181S|EHF_uc009ykf.2_Missense_Mutation_p.P207S	NM_001206616	NP_001193545	Q9NZC4	EHF_HUMAN	Homo sapiens ets homologous factor (EHF), transcript variant 1, mRNA.	204					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			TTCATCAGACCCGAGAGGGAC	0.463000														49			29		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179486330	179486330	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179486330C>T	uc021vsy.1	-	193	37742	c.37517G>A	c.(37516-37518)gGa>gAa	p.G12506E	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G6201E|TTN_uc021vta.1_Missense_Mutation_p.G6134E|TTN_uc021vtb.1_Missense_Mutation_p.G6009E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13433	Ig-like 83.						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)			TTCATATCTTCCTGTTTCAAT	0.443000														72			33		0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100510857	100510857	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:100510857G>A	uc011cej.2	+	3	545	c.532G>A	c.(532-534)Ggt>Agt	p.G178S	MTTP_uc003hvc.4_Missense_Mutation_p.G151S	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	151	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TATCAAGAGAGGTCTGGCTAG	0.403000														55			13		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815176	106815176	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:106815176G>A	uc003ymd.3	+	7	2889	c.2866G>A	c.(2866-2868)Gaa>Aaa	p.E956K	ZFPM2_uc011lhs.2_Missense_Mutation_p.E687K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	956					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGCTACAAAAGAAGAAAACAG	0.443000														21			5		0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847181	7847181	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7847181G>A	uc010rbg.2	-	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGCCAGCAGGAAGCACTCGG	0.547000														111			38		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19566125	19566125	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:19566125C>T	uc002wrl.3	+	5	746	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	183						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTGGCACCATCGTGGGCTCAG	0.542000														183			22		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7170372	7170372	+	Splice_Site	SNP	G	A	A	rs112283405		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7170372G>A	uc001qsj.3	+	7	1110	c.391_splice	c.e7+1	p.D131_splice	C1S_uc001qsk.3_Splice_Site_p.D131_splice|C1S_uc001qsl.3_Splice_Site_p.D131_splice|C1S_uc009zfr.3_Splice_Site|C1S_uc009zfs.3_Splice_Site	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	131	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GTTGCCACAGGTAAGGCTCAC	0.423000														59			23		0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4798696	4798696	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:4798696C>T	uc003snc.1	+	5	1269	c.1259C>T	c.(1258-1260)tCg>tTg	p.S420L	FOXK1_uc003sna.1_Missense_Mutation_p.S257L	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	420					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|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			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GCTCCAGCTTCGCCCACACAC	0.682000														80			37		0	0	1	0	0
ART3	419	broad.mit.edu	37	4	77003470	77003470	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77003470C>T	uc003hjo.3	+	2	697	c.563C>T	c.(562-564)tCa>tTa	p.S188L	ART3_uc003hji.3_Missense_Mutation_p.S188L|ART3_uc003hjj.3_Missense_Mutation_p.S188L|ART3_uc003hjk.3_Missense_Mutation_p.S188L|ART3_uc010ija.2_Missense_Mutation_p.S188L|ART3_uc003hjn.3_Missense_Mutation_p.S188L|ART3_uc003hjp.3_Intron|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Missense_Mutation_p.S158L|ART3_uc010ijc.3_Missense_Mutation_p.S158L|ART3_uc010ijd.3_Missense_Mutation_p.S158L	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA.	188					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	p.S188S(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGGCATATTCAGCCAAACCT	0.423000														25			15		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54914862	54914862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:54914862C>T	uc003dhf.3	+	20	1932	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.F534F|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.F362F|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	628						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GGAAATATTTCTTCCGAGGGA	0.483000														239			94		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367424	234367424	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:234367424C>T	uc001hvy.1	+	2	690	c.545C>T	c.(544-546)cCg>cTg	p.P182L	SLC35F3_uc001hwa.1_Missense_Mutation_p.P113L	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	113					transport	integral to membrane		p.P182Q(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TTATTCTTCCCGTTGTACTAC	0.592000														195			10		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55219018	55219018	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:55219018G>A	uc003tqk.3	+	4	837	c.591G>A	c.(589-591)ggG>ggA	p.G197G	EGFR_uc003tqh.3_Silent_p.G197G|EGFR_uc003tqi.3_Silent_p.G197G|EGFR_uc003tqj.3_Silent_p.G197G|EGFR_uc022adm.1_Silent_p.G197G|EGFR_uc010kzg.2_Silent_p.G152G|EGFR_uc022adn.1_Silent_p.G152G|EGFR_uc011kco.2_Silent_p.G144G|EGFR_uc003tql.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	197					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTCCCAATGGGAGCTGCTGGG	0.502000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				119			23		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41452225	41452225	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41452225C>T	uc002yyq.1	-	24	4726	c.4274G>A	c.(4273-4275)gGg>gAg	p.G1425E	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1425	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGAAAACTCCCCCACTGCTC	0.473000														56			12		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16276673	16276673	+	Silent	SNP	G	A	A	rs57866002		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:16276673G>A	uc002den.4	-	15	2095	c.2058C>T	c.(2056-2058)ttC>ttT	p.F686F	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	686	ABC transporter 1.				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)		CGATGCTCACGAACCCCTCCA	0.652000														49			18		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51795149	51795149	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51795149G>A	uc010ufy.2	-	16	3071	c.2846C>T	c.(2845-2847)tCt>tTt	p.S949F	DMXL2_uc002abf.3_Missense_Mutation_p.S949F|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	949						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CACACTAGGAGAGGTTTCTGG	0.418000														125			23		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76397896	76397896	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:76397896C>T	uc021rkq.1	+	14	3171	c.2836C>T	c.(2836-2838)Caa>Taa	p.Q946*	LMO7_uc010thv.2_Nonsense_Mutation_p.Q664*|LMO7_uc001vjt.1_Nonsense_Mutation_p.Q612*|LMO7_uc001vjv.3_Nonsense_Mutation_p.Q713*|LMO7_uc010thw.2_Nonsense_Mutation_p.Q563*|LMO7_uc001vjw.1_Nonsense_Mutation_p.Q619*	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	998						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.Q713K(1)|p.Q664K(1)|p.Q998K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATCTCTTTCCCAAGACCAGGC	0.478000														59			25		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35874645	35874645	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35874645G>A	uc003jjs.3	+	6	889	c.800_splice	c.e6+1	p.R267_splice	IL7R_uc011coo.2_Intron|IL7R_uc011cop.2_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	267					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GGAAAAAAAGGTGACCTTCTT	0.428000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							84			26		0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100330033	100330034	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:100330033_100330034CT>TC	uc001dsi.1	+	4	952_953	c.552_553CT>TC	c.(550-555)gacttt>gaTCtt	p.F185L	AGL_uc001dsj.1_Missense_Mutation_p.F185L|AGL_uc001dsk.1_Missense_Mutation_p.F185L|AGL_uc001dsl.1_Missense_Mutation_p.F185L|AGL_uc001dsm.1_Missense_Mutation_p.F169L|AGL_uc001dsn.1_Missense_Mutation_p.F168L	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	185					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TAAATCCTGACTTTTCAAGACC	0.366000														115			28		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73617662	73617662	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:73617662C>T	uc002avp.3	-	4	2708	c.1714G>A	c.(1714-1716)Gag>Aag	p.E572K		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	572					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TCGCTTAGCTCGCCCAGGATG	0.677000														79			22		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28883029	28883029	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:28883029C>T	uc001usb.3	-	27	3956	c.3671G>A	c.(3670-3672)aGa>aAa	p.R1224K	FLT1_uc010aap.2_Missense_Mutation_p.R229K|FLT1_uc010aaq.2_Missense_Mutation_p.R349K|FLT1_uc001usa.3_Missense_Mutation_p.R442K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1224					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.E1223K(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GGTTTTGATTCTTTCCAGGCT	0.408000														64			35		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31302255	31302255	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:31302255G>A	uc003jhe.2	+	5	1209	c.849G>A	c.(847-849)ccG>ccA	p.P283P	CDH6_uc003jhd.2_Silent_p.P283P	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	283	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTTCTCCACCGGGGACACCAA	0.423000														39			14		0	0	1	0	0
RNASE3	6037	broad.mit.edu	37	14	21359980	21359980	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21359980G>A	uc021roq.1	+	0	135	c.135G>A	c.(133-135)ctG>ctA	p.L45L	RNASE3_uc001vyj.3_Silent_p.L45L	NM_002935	NP_002926	P12724	ECP_HUMAN	Homo sapiens ribonuclease, RNase A family, 3 (RNASE3), mRNA.	45					RNA catabolic process|defense response to bacterium	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity	p.L45V(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	ACATCAGTCTGAACCCCCCTC	0.488000														118			49		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23776524	23776524	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:23776524G>A	uc003sws.4	+	8	910	c.843_splice	c.e8-1	p.K281_splice	STK31_uc003swt.4_Splice_Site_p.K258_splice|STK31_uc011jze.2_Splice_Site_p.K281_splice|STK31_uc010kuq.3_Splice_Site_p.K258_splice	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	281							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTTTATAGGGAAAGTTTGGC	0.323000														48			16		0	0	1	0	0
CD80	941	broad.mit.edu	37	3	119263605	119263605	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:119263605C>T	uc003ecq.3	-	2	605	c.210G>A	c.(208-210)aaG>aaA	p.K70K	CD80_uc010hqt.1_Silent_p.K70K|CD80_uc010hqu.1_Silent_p.K70K|CD80_uc003ecr.1_Silent_p.K70K	NM_005191	NP_005182	P33681	CD80_HUMAN	Homo sapiens CD80 molecule (CD80), mRNA.	70	Ig-like V-type.				T cell costimulation|interspecies interaction between organisms|intracellular signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of transcription, DNA-dependent	intracellular	coreceptor activity|protein binding	p.K70N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	GCACCATTTTCTTCTCCTTTT	0.458000														86			24		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35801080	35801080	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:35801080C>T	uc003zyd.3	+	6	1365	c.1365C>T	c.(1363-1365)acC>acT	p.T455T	NPR2_uc010mlb.3_Silent_p.T455T	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	455					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CACTTTCAACCCTGGCAATTG	0.507000														144			51		0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46916019	46916020	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46916019_46916020CC>TT	uc002pep.3	-	0	900_901	c.48_49GG>AA	c.(46-51)gaggtc>gaAAtc	p.V17I		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	17						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		gccagcctgacctcccggggga	0.604000														59			8		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202287288	202287288	+	Silent	SNP	C	T	T	rs148517456	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:202287288C>T	uc001gxu.3	+	17	1857	c.1857C>T	c.(1855-1857)gcC>gcT	p.A619A	LGR6_uc001gxv.3_Silent_p.A567A|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.A480A	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	619						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCCTTCTAGCCTCAGTCGATG	0.627000														30			15		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764842	77764842	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:77764842C>T	uc003yau.2	+	9	6072	c.5685C>T	c.(5683-5685)atC>atT	p.I1895I	ZFHX4_uc003yaw.1_Silent_p.I1850I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1850						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S1894Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACCATCCATCCCACCACCCC	0.433000										HNSCC(33;0.089)				16			8		0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89854483	89854483	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:89854483G>A	uc010len.3	+	2	593	c.87G>A	c.(85-87)agG>agA	p.R29R	STEAP2_uc003ujy.2_Silent_p.R71R|STEAP2_uc003uka.3_Silent_p.R29R|STEAP2_uc003ujz.3_Silent_p.R29R|STEAP2_uc003ukc.3_Silent_p.R29R|STEAP2_uc003ukb.3_Silent_p.R29R|STEAP2_uc003ukd.3_Silent_p.R29R	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	29					Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					AAGATGCAAGGAAGGTCACTG	0.408000														125			35		0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778460	31778460	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31778460G>A	uc003nxh.3	-	1	1473	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	HSPA1L_uc010jte.3_Silent_p.F430F|HSPA1L_uc021yuz.1_Silent_p.F430F	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	430					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AGTAGGTGGTGAAAATCTGTG	0.597000														158			81		0	0	1	0	0
CPVL	54504	broad.mit.edu	37	7	29160613	29160613	+	Missense_Mutation	SNP	C	T	T	rs148332481	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:29160613C>T	uc003szv.3	-	1	184	c.65G>A	c.(64-66)gGg>gAg	p.G22E	CPVL_uc003szw.3_Missense_Mutation_p.G22E|CPVL_uc003szx.3_Missense_Mutation_p.G22E	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	22					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GCGAAACAGCCCATCACAGGG	0.488000														67			34		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92730808	92730808	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92730808C>T	uc003umf.3	-	2	4873	c.4603G>A	c.(4603-4605)Gaa>Aaa	p.E1535K	SAMD9_uc003umg.3_Missense_Mutation_p.E1535K|SAMD9_uc022ahg.1_Missense_Mutation_p.E1535K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1535						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)			CAATTGTTTTCAGCTCGACCT	0.373000														45			19		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3581927	3581927	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:3581927C>T	uc002kmf.3	-	7	2438	c.1911G>A	c.(1909-1911)gaG>gaA	p.E637E	DLGAP1_uc010wyz.2_Silent_p.E637E|DLGAP1_uc010dkn.3_Silent_p.E345E|DLGAP1_uc002kme.2_Silent_p.E335E|DLGAP1_uc010wyw.2_Silent_p.E343E|DLGAP1_uc010wyx.2_Silent_p.E359E|DLGAP1_uc010wyy.2_Silent_p.E321E|DLGAP1_uc002kmg.3_Silent_p.E335E	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	637					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.T636M(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TCTTCCTGTCCTCCgtggtga	0.493000														100			43		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7703877	7703877	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:7703877G>A	uc002cys.2	+	11	1806	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	RBFOX1_uc010buf.1_Missense_Mutation_p.R273Q|RBFOX1_uc002cyr.1_Missense_Mutation_p.R272Q|RBFOX1_uc002cyt.2_Missense_Mutation_p.R246Q|RBFOX1_uc010uxz.1_Missense_Mutation_p.R316Q|RBFOX1_uc010uya.1_Missense_Mutation_p.R230Q|RBFOX1_uc002cyv.1_Missense_Mutation_p.R273Q|RBFOX1_uc010uyb.1_Missense_Mutation_p.R273Q|RBFOX1_uc002cyw.2_Missense_Mutation_p.R293Q|RBFOX1_uc002cyy.2_Missense_Mutation_p.R293Q|RBFOX1_uc002cyx.2_Missense_Mutation_p.R293Q|RBFOX1_uc010uyc.1_Missense_Mutation_p.R266Q	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	273					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCGCACCTGCGAGGCCGCGGT	0.731000														25			19		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150773146	150773146	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:150773146G>A	uc004fev.4	+	2	389	c.57G>A	c.(55-57)agG>agA	p.R19R		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	19						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)					GCTCTCAAAGGAAATTAAACT	0.333000														8			15		0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3002618	3002618	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:3002618C>T	uc022brz.1	+	5	877	c.741C>T	c.(739-741)ctC>ctT	p.L247L	ARSF_uc004cre.2_Silent_p.L247L|ARSF_uc004crf.2_Silent_p.L247L	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	247						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACTGCCTCCTCATGCGGGGGC	0.507000														25			36		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121478834	121478834	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121478834G>A	uc001pxx.3	+	37	5317	c.5188G>A	c.(5188-5190)Gga>Aga	p.G1730R	SORL1_uc010rzp.1_Missense_Mutation_p.G576R|SORL1_uc010rzq.1_Missense_Mutation_p.G345R	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1730	Fibronectin type-III 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GACTAGTCGTGGAATAGGAAA	0.373000														58			23		0	0	1	0	0
CXCL9	4283	broad.mit.edu	37	4	76924824	76924824	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:76924824C>T	uc003hjh.1	-	3	344	c.305G>A	c.(304-306)gGg>gAg	p.G102E		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 9 (CXCL9), mRNA.	102					G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular defense response|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATGTTTTTTCCCATTCTTTTG	0.353000														93			20		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61978179	61978179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61978179C>T	uc002yes.2	-	5	1973	c.1795G>A	c.(1795-1797)Gac>Aac	p.D599N	CHRNA4_uc002yet.1_Missense_Mutation_p.D423N|CHRNA4_uc010gke.1_Missense_Mutation_p.D528N|CHRNA4_uc002yev.1_Missense_Mutation_p.D423N|CHRNA4_uc010gkf.1_Missense_Mutation_p.D423N	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	599					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	AAGATGCGGTCGATGACCATG	0.657000														59			30		0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39622349	39622349	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39622349G>A	uc002hwr.3	-	1	609	c.548C>T	c.(547-549)gCc>gTc	p.A183V		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	183	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				AACTCACTTGGCCCTGAAGTC	0.547000														71			5		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94055164	94055164	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94055164G>A	uc003ung.1	+	43	3409	c.2938G>A	c.(2938-2940)Gaa>Aaa	p.E980K	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	980				E -> V (in Ref. 21; AAA51996).	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)	AAACCGTGGTGAAACTGTAAG	0.577000										HNSCC(75;0.22)				13			3		0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3002768	3002768	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3002768C>T	uc010zqd.2	+	13	1580	c.1263C>T	c.(1261-1263)gaC>gaT	p.D421D	PTPRA_uc002whj.3_Silent_p.D410D|PTPRA_uc002whk.3_Silent_p.D401D|PTPRA_uc002whl.3_Silent_p.D401D|PTPRA_uc002whm.3_Silent_p.D177D|PTPRA_uc002whn.3_Silent_p.D401D|PTPRA_uc002who.3_Silent_p.D73D	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	410	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCTGGCCAGACTTTGGGGTGC	0.562000														94			32		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833573	168833573	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:168833573G>A	uc011bpj.1	-	7	2490	c.2087C>T	c.(2086-2088)cCc>cTc	p.P696L	MECOM_uc010hwk.1_Missense_Mutation_p.P531L|MECOM_uc003ffj.3_Missense_Mutation_p.P573L|MECOM_uc003ffi.3_Missense_Mutation_p.P508L|MECOM_uc011bpi.1_Missense_Mutation_p.P509L|MECOM_uc003ffn.3_Missense_Mutation_p.P508L|MECOM_uc003ffk.2_Missense_Mutation_p.P508L|MECOM_uc003ffl.2_Missense_Mutation_p.P668L|MECOM_uc011bpk.1_Missense_Mutation_p.P508L|MECOM_uc010hwn.2_Missense_Mutation_p.P696L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AAATGGGAGGGGAAACATGGA	0.423000														102			21		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41318429	41318429	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:41318429C>T	uc001rmm.1	+	5	584	c.471C>T	c.(469-471)ctC>ctT	p.L157L	CNTN1_uc009zjy.2_Silent_p.L157L|CNTN1_uc001rmn.1_Silent_p.L146L|CNTN1_uc001rmo.3_Silent_p.L157L	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	157	Ig-like C2-type 2.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGGTGCTTCTCTGTGACCCCC	0.378000														46			13		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10910355	10910355	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:10910355G>A	uc002yip.1	-	21	1769	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.F449F|TPTE_uc002yir.1_Silent_p.F429F|TPTE_uc010gkv.1_Silent_p.F329F	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	467	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L467I(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)		GTAGACCGTCGAATACATCAA	0.338000														132			19		0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19839242	19839242	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:19839242G>A	uc002zqg.3	-	1	1142	c.543C>T	c.(541-543)gaC>gaT	p.D181D	GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.3_Silent_p.D181D|C22orf29_uc002zqi.3_Silent_p.D181D|C22orf29_uc021wli.1_Silent_p.D181D	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	Homo sapiens chromosome 22 open reading frame 29 (C22orf29), mRNA.	181										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					AACTGTTCGGGTCTTGAACAA	0.617000														95			8		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8665652	8665652	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:8665652G>A	uc002wnb.3	+	9	939	c.936G>A	c.(934-936)ctG>ctA	p.L312L	PLCB1_uc010zrb.1_Silent_p.L211L|PLCB1_uc002wna.3_Silent_p.L312L|PLCB1_uc002wnc.1_Silent_p.L211L	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	312					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						CTGAGAAACTGGATTTGAATG	0.413000														153			72		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29044306	29044306	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29044306C>T	uc002kws.3	+	8	1341	c.1232C>T	c.(1231-1233)gCc>gTc	p.A411V		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	411	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACATATCAAGCCATCGATGAG	0.358000														70			20		0	0	1	0	0
RAB30	27314	broad.mit.edu	37	11	82693265	82693265	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:82693265G>A	uc001ozu.3	-	5	815	c.554C>T	c.(553-555)tCa>tTa	p.S185L	RAB30_uc009yve.3_Missense_Mutation_p.S183L|RAB30_uc010rst.2_Missense_Mutation_p.S185L|RAB30_uc001ozv.3_3'UTR	NM_014488	NP_055303	Q15771	RAB30_HUMAN	Homo sapiens RAB30, member RAS oncogene family (RAB30), mRNA.	185					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AGGTAAGGGTGAGGATACATT	0.448000														93			45		0	0	1	0	0
DCN	1634	broad.mit.edu	37	12	91572281	91572281	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:91572281C>T	uc001tbt.3	-	1	303	c.49G>A	c.(49-51)Gga>Aga	p.G17R	DCN_uc001tbo.3_Missense_Mutation_p.G17R|DCN_uc001tbp.3_Missense_Mutation_p.G17R|DCN_uc001tbq.3_Missense_Mutation_p.G17R|DCN_uc001tbr.3_Missense_Mutation_p.G17R|DCN_uc001tbu.3_Missense_Mutation_p.G17R	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	17					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TGAAACGGTCCAGCCCAGGAA	0.473000											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			37		0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44639169	44639169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44639169C>T	uc002xqz.3	+	2	438	c.419C>T	c.(418-420)gCc>gTc	p.A140V		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	140					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	ATTGACGACGCCTTTGCCCGC	0.617000														40			17		0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328747	88328747	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:88328747C>T	uc001vln.3	+	1	1323	c.1104C>T	c.(1102-1104)tcC>tcT	p.S368S	SLITRK5_uc010tic.1_Silent_p.S127S|SLITRK5_uc021rlc.1_Silent_p.S368S	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	368	LRRNT.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AGACCAAATCCCCGGTGCCTT	0.597000														65			15		0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156395585	156395585	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:156395585C>T	uc003fav.3	+	1	521	c.99C>T	c.(97-99)atC>atT	p.I33I	TIPARP-AS1_uc011boq.2_5'Flank|TIPARP_uc003faw.3_Silent_p.I33I|TIPARP_uc021xgg.1_Silent_p.I33I	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	33							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CTGAGAAGATCACTCCATTGA	0.433000														147			20		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325338	150325338	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150325338G>A	uc022apv.1	-	2	1038	c.558C>T	c.(556-558)atC>atT	p.I186I	GIMAP6_uc003whn.3_Silent_p.I116I|GIMAP6_uc003whm.3_Missense_Mutation_p.R42C	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	116							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGATAAGACGATGGCTTGGC	0.632000														76			23		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67028325	67028325	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:67028325C>T	uc002jhu.3	-	9	1512	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	ABCA9_uc010dez.3_Missense_Mutation_p.E457K	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	457					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GAATCTGTTTCATTCTCAAGG	0.413000														74			36		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531517	92531517	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92531517G>A	uc001pdj.4	+	8	5355	c.5338G>A	c.(5338-5340)Gag>Aag	p.E1780K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1780	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGCCTAAGTGAGGCTGCCCC	0.458000										TCGA Ovarian(4;0.039)				21			14		0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79698625	79698625	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:79698625A>T	uc022bzm.1	+	0	587	c.587A>T	c.(586-588)aAa>aTa	p.K196I	FAM46D_uc004edl.1_Missense_Mutation_p.K196I|FAM46D_uc004edm.2_Missense_Mutation_p.K196I	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	196										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AAGCTAACCAAAGAATCCTAT	0.403000														18			38		0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825982	64825982	+	Silent	SNP	C	T	T	rs142141446		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64825982C>T	uc001ocn.3	-	0	28	c.12G>A	c.(10-12)acG>acA	p.T4T	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	4					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CCAACACCTTCGTCCACTGCA	0.592000														15			7		0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36933246	36933246	+	Missense_Mutation	SNP	G	A	A	rs144754091		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:36933246G>A	uc001caw.2	-	14	2455	c.1871C>T	c.(1870-1872)tCg>tTg	p.S624L	CSF3R_uc001cav.2_Missense_Mutation_p.S624L|CSF3R_uc001cax.2_Missense_Mutation_p.S624L	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	624					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTGTAGCTCCGACCCCTCTGC	0.602000														35			9		0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97192281	97192281	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:97192281G>A	uc001kkp.3	-	3	270	c.225C>T	c.(223-225)gcC>gcT	p.A75A	SORBS1_uc001kkn.3_Silent_p.A31A|SORBS1_uc001kkm.3_Silent_p.A63A|SORBS1_uc001kko.3_Silent_p.A75A|SORBS1_uc001kkq.3_Silent_p.A75A|SORBS1_uc001kkr.3_Silent_p.A43A|SORBS1_uc001kks.3_Silent_p.A43A|SORBS1_uc001kkt.3_Non-coding_Transcript|SORBS1_uc001kku.3_Silent_p.A75A|SORBS1_uc001kkv.3_Silent_p.A43A|SORBS1_uc001kkw.3_Silent_p.A75A|SORBS1_uc010qoe.2_Silent_p.A43A|SORBS1_uc010qof.1_Silent_p.A43A|SORBS1_uc001kkx.1_Silent_p.A43A	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	75					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGGAAGACGAGGCCCGGAGAG	0.527000														68			44		0	0	1	0	0
NNMT	4837	broad.mit.edu	37	11	114168706	114168706	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:114168706G>A	uc001por.1	+	3	452	c.188G>A	c.(187-189)gGc>gAc	p.G63D	NNMT_uc001pos.1_Missense_Mutation_p.G63D	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	63	S-adenosyl-L-methionine binding.				xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	ATTGACATCGGCTCTGGCCCC	0.512000														85			45		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587021	42587021	+	Missense_Mutation	SNP	G	A	A	rs78866303	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:42587021G>A	uc003xpi.1	+	4	699	c.571G>A	c.(571-573)Gac>Aac	p.D191N		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	191					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGAAAATGTCGACAGAAAAGA	0.463000														70			16		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4281527	4281527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:4281527C>T	uc003smx.3	+	42	6372	c.6233C>T	c.(6232-6234)tCc>tTc	p.S2078F	SDK1_uc010kso.3_Missense_Mutation_p.S1334F|SDK1_uc003smy.3_Missense_Mutation_p.S565F|SDK1_uc003smz.3_Missense_Mutation_p.S138F	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	2078					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCACCTTCTCCAAGAAGAAC	0.632000														36			9		0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327032	52327032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52327032G>A	uc002pxt.1	+	1	215	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	FPR3_uc021uyq.1_Missense_Mutation_p.E11K	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	11					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TCCTCTGAATGAAACTGAGGA	0.493000														42			22		0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135266134	135266134	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135266134G>A	uc004cbl.3	-	6	2141	c.2072C>T	c.(2071-2073)cCc>cTc	p.P691L	TTF1_uc004cbm.3_Missense_Mutation_p.P176L|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	691	Myb-like 2.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TAACTCCTGGGGAGACATCTT	0.408000														186			28		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33623571	33623571	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:33623571C>T	uc021ywr.1	+	2	413	c.189C>T	c.(187-189)aaC>aaT	p.N63N		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	63					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCCCCATGAACCGCTACTCGG	0.582000														48			5		0	0	1	0	0
PLD4	122618	broad.mit.edu	37	14	105396385	105396385	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105396385G>A	uc010tyl.1	+	5	839	c.681G>A	c.(679-681)gtG>gtA	p.V227V	PLD4_uc001ypu.1_Silent_p.V220V	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	Homo sapiens phospholipase D family, member 4 (PLD4), mRNA.	220	PLD phosphodiesterase 1.				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	TCTGGGTTGTGGATGGACGGC	0.587000														69			22		0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209358274	209358274	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:209358274G>A	uc010zjb.2	+	12	1862	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	PTH2R_uc002vdb.3_Missense_Mutation_p.E515K|PTH2R_uc010fuo.1_Intron	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	515						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GGAGACCAAGGAAGATAGTGG	0.522000														50			19		0	0	1	0	0
C1orf43	25912	broad.mit.edu	37	1	154186378	154186378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154186378G>A	uc001fei.2	-	3	721	c.331C>T	c.(331-333)Cgt>Tgt	p.R111C	C1orf43_uc001feg.2_Missense_Mutation_p.R77C|C1orf43_uc001feh.2_Intron|C1orf43_uc009wos.1_Intron|C1orf43_uc001fek.3_Missense_Mutation_p.R111C	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN	Homo sapiens chromosome 1 open reading frame 43 (C1orf43), transcript variant 3, mRNA.	111						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					CCAGAGGTACGAATGGCATCC	0.463000														137			33		0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242815135	242815135	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242815135C>T	uc010fzu.1	+	1	1451	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	476						integral to membrane											CCATCCCCTTCGCAGTCTTCG	0.627000														99			19		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84609301	84609301	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:84609301G>A	uc004amn.3	+	3	3963	c.3916G>A	c.(3916-3918)Gga>Aga	p.G1306R		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1306						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AGAGCTTGATGGAGGGGATGC	0.532000														27			6		0	0	1	0	0
HSD17B3	3293	broad.mit.edu	37	9	99003048	99003048	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:99003048C>T	uc004awa.1	-	9	862	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	HSD17B3_uc010msc.1_Intron	NM_000197	NP_000188	P37058	DHB3_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA.	272					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	ACCAAGATTTCATGGGCAAGG	0.473000														89			21		0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3395114	3395114	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3395114G>A	uc001akg.4	+	11	2000	c.1752G>A	c.(1750-1752)caG>caA	p.Q584Q	ARHGEF16_uc001aki.3_Silent_p.Q296Q|ARHGEF16_uc001akj.3_Silent_p.Q296Q|ARHGEF16_uc010nzh.2_Silent_p.Q288Q	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	584	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ACCCCTTCCAGGTGACCCTGC	0.672000														60			34		0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41165464	41165464	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41165464C>T	uc002yyo.3	+	7	1155	c.1052C>T	c.(1051-1053)aCc>aTc	p.T351I		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	351						integral to membrane|tight junction		p.D350E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GTTGCAGACACCGCTTCTCTC	0.418000														114			35		0	0	1	0	0
TMEM201	199953	broad.mit.edu	37	1	9661297	9661297	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:9661297C>T	uc021ofy.1	+	4	798	c.741C>T	c.(739-741)ccC>ccT	p.P247P	TMEM201_uc001apy.3_Silent_p.P247P|TMEM201_uc021ofz.1_Silent_p.P88P	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	Homo sapiens transmembrane protein 201 (TMEM201), transcript variant 1, mRNA.	247						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CCACTGTGCCCCTGGCCCTGC	0.692000														91			8		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36780080	36780080	+	Missense_Mutation	SNP	C	T	T	rs56070233	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36780080C>T	uc003cgi.2	-	1	562	c.71G>A	c.(70-72)cGg>cAg	p.R24Q		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	24			R -> Q (in dbSNP:rs56070233).			cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGTCAGGGCCCGGGCTTTGTT	0.567000														132			48		0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99568383	99568383	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:99568383C>T	uc003dtm.3	-	4	2600	c.2137G>A	c.(2137-2139)Ggg>Agg	p.G713R	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.G713R|FILIP1L_uc010hpf.3_Missense_Mutation_p.G289R|FILIP1L_uc010hpg.3_Missense_Mutation_p.G473R|FILIP1L_uc003dtn.3_Missense_Mutation_p.G473R|FILIP1L_uc021xbr.1_Missense_Mutation_p.G473R|FILIP1L_uc003dtp.1_Missense_Mutation_p.G473R	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	713						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GAGAGGTGCCCTGACTTAGCT	0.408000														144			11		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86813153	86813153	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:86813153C>T	uc002blz.1	+	12	1784	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	AGBL1_uc002bma.1_Silent_p.F299F|AGBL1_uc002bmb.1_Silent_p.F262F	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	568					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.F568F(2)		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						TCTGCAGGTTCGAGTATGACT	0.473000														36			10		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28761201	28761201	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:28761201G>A	uc002rmb.2	+	9	615	c.571G>A	c.(571-573)Ggc>Agc	p.G191S	PLB1_uc010ezj.2_Missense_Mutation_p.G202S	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	191	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GCTTGCGGCGGGCGGCGTGGA	0.652000														21			13		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145627710	145627710	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:145627710C>T	uc003ijs.2	+	4	1539	c.859C>T	c.(859-861)Ctc>Ttc	p.L287F		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	287						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		ACTGCTAAGCCTCGCATTCCA	0.413000														26			16		0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456123	5456123	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:5456123C>T	uc002mca.4	+	0	698	c.621C>T	c.(619-621)atC>atT	p.I207I		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	207	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGGGCCAGATCGCCATCCCCT	0.682000														89			40		0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820243	55820243	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55820243C>T	uc010spm.2	+	0	206	c.206C>T	c.(205-207)tCa>tTa	p.S69L		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTGGAAATTTCATTTACTTCT	0.393000														159			37		0	0	1	0	0
ZFP41	286128	broad.mit.edu	37	8	144332487	144332487	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144332487C>T	uc003yxw.3	+	1	832	c.474C>T	c.(472-474)ctC>ctT	p.L158L	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Silent_p.L158L	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	158					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCTCCAATCTCCTGAAACATC	0.562000														117			52		0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56233058	56233058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56233058C>T	uc010wno.2	+	0	544	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTGTGATGTTCCCCAAGTACT	0.517000														113			46		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307705	140307705	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140307705G>A	uc003lih.2	+	0	1404	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.E410K	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	434	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)			GCAGATCAGTGAATACCAAGT	0.527000														67			8		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29416609	29416609	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29416609G>A	uc002rmy.3	-	28	5296	c.4344C>T	c.(4342-4344)tcC>tcT	p.S1448S	ALK_uc010ymo.2_Silent_p.S380S	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1448					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCTTGCCAGAGGAGGTGGTAG	0.612000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					108			44		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71056346	71056346	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:71056346C>T	uc001swi.2	-	10	1951	c.1537G>A	c.(1537-1539)Gga>Aga	p.G513R	PTPRR_uc001swf.2_Non-coding_Transcript|PTPRR_uc001swg.2_Non-coding_Transcript|PTPRR_uc001swh.2_Missense_Mutation_p.G268R|PTPRR_uc009zrs.3_Missense_Mutation_p.G307R|PTPRR_uc010stq.2_Missense_Mutation_p.G401R|PTPRR_uc010str.1_Missense_Mutation_p.G362R	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	513	Tyrosine-protein phosphatase.				in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCAACTTTTCCATATATCCCT	0.373000														56			15		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81647096	81647096	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81647096C>T	uc001szl.1	+	13	1821	c.1730C>T	c.(1729-1731)tCc>tTc	p.S577F	ACSS3_uc001szm.1_Missense_Mutation_p.S576F|ACSS3_uc001szn.1_Missense_Mutation_p.S259F	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	577						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TCAATCCTTTCCCATGGTACC	0.363000														199			26		0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90435980	90435980	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:90435980G>A	uc001kfg.2	+	8	1017	c.903G>A	c.(901-903)ggG>ggA	p.G301G	LIPF_uc001kfh.2_Silent_p.G278G|LIPF_uc010qmt.2_Silent_p.G311G|LIPF_uc010qmu.2_Silent_p.G268G	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	301					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TTAAGTCTGGGAAATTCCAAG	0.308000														51			12		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23865624	23865624	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23865624G>A	uc001wjv.3	-	19	2369	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	766	Actin-binding.|Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			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)		CTGCCTTGAAGAACACCTGCA	0.642000														34			11		0	0	1	0	0
STXBP3	6814	broad.mit.edu	37	1	109302685	109302685	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:109302685C>T	uc001dvy.3	+	5	491	c.416C>T	c.(415-417)tCc>tTc	p.S139F	STXBP3_uc021oqz.1_Missense_Mutation_p.S139F	NM_007269	NP_009200	O00186	STXB3_HUMAN	Homo sapiens syntaxin binding protein 3 (STXBP3), mRNA.	139	Mediates interaction with DOC2B (By similarity).				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		ATAAATATTTCCTTCATTCCA	0.289000														148			55		0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416700	145416700	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:145416700G>A	uc001eni.2	+	3	1370	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	HFE2_uc001enk.2_Missense_Mutation_p.E236K|HFE2_uc001enj.2_Missense_Mutation_p.E123K|HFE2_uc001enl.2_Missense_Mutation_p.E123K|HFE2_uc021oux.1_Missense_Mutation_p.E123K	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	349					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTGTGCAAGGAAGGGCTTCC	0.527000														47			16		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24527904	24527904	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24527904G>A	uc001wlj.2	+	17	1565	c.1408G>A	c.(1408-1410)Gcc>Acc	p.A470T		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	470										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TTCAGCGGGAGCCCAAGCCTT	0.592000											OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			9		0	0	1	0	0
RBFA	79863	broad.mit.edu	37	18	77797462	77797462	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:77797462G>A	uc002lns.3	+	2	484	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	RBFA_uc010drh.3_Missense_Mutation_p.E112K|RBFA_uc010dri.2_Intron	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	Homo sapiens ribosome binding factor A (putative) (RBFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	112					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GTGTACCCCTGAAGTGAGTCA	0.552000														125			63		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21136298	21136298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:21136298G>A	uc002kum.4	-	7	1509	c.1235C>T	c.(1234-1236)gCc>gTc	p.A412V	NPC1_uc010xaz.2_Missense_Mutation_p.A213V|NPC1_uc010xba.1_Missense_Mutation_p.A257V	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	412					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGTGAGAGGGGCCCGGATGAT	0.562000														53			25		0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342998	29342998	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29342998G>A	uc003nme.3	-	0	71	c.67C>T	c.(67-69)Cct>Tct	p.P23S		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q22K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						AAGAAGAAAGGCTGCAGCTCC	0.393000														48			23		0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109088468	109088468	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:109088468C>T	uc002tec.3	+	5	2837	c.2683C>T	c.(2683-2685)Cat>Tat	p.H895Y	GCC2_uc002ted.3_Missense_Mutation_p.H794Y	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	895					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAGTGAAATCCATAATGAAAA	0.294000														70			17		0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82027083	82027083	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:82027083G>A	uc003hmh.2	-	14	1960	c.1947C>T	c.(1945-1947)ccC>ccT	p.P649P	PRKG2_uc011ccf.1_Silent_p.P229P|PRKG2_uc011ccg.1_Silent_p.P229P|PRKG2_uc011cch.1_Silent_p.P620P	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	649	Protein kinase.				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						CCCCAGAAAAGGGTGGGCTAG	0.398000														53			22		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165182897	165182897	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:165182897G>A	uc001gcz.2	-	4	844	c.650C>T	c.(649-651)tCc>tTc	p.S217F	LMX1A_uc021pdz.1_Missense_Mutation_p.S217F|LMX1A_uc021pdy.1_5'Flank|LMX1A_uc001gcw.2_5'Flank	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	217						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GGGCTTGGAGGATACTTCAAA	0.562000														124			60		0	0	1	0	0
LAT2	7462	broad.mit.edu	37	7	73631186	73631186	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:73631186G>A	uc003uag.3	+	3	676	c.126G>A	c.(124-126)caG>caA	p.Q42Q	LAT2_uc003uah.3_Silent_p.Q42Q|LAT2_uc003uai.3_Silent_p.Q42Q|LAT2_uc010lbo.3_Non-coding_Transcript	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	Homo sapiens linker for activation of T cells family, member 2 (LAT2), transcript variant 1, mRNA.	42					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						TCTACCAGCAGAGAAGTCTGT	0.562000														70			13		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55224579	55224579	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55224579C>T	uc002qgs.1	+	0		c.4979C>T			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		TCTGAGACCTCTTGGTCCACC	0.622000														31			21		0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6532654	6532654	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6532654C>T	uc001mdw.4	+	6	1951	c.1387C>T	c.(1387-1389)Cga>Tga	p.R463*	DNHD1_uc001mdp.3_Nonsense_Mutation_p.R463*|DNHD1_uc001mdq.3_Nonsense_Mutation_p.R152*	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	463					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATCCATTCTTCGACTGGTAAG	0.517000														94			46		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3267122	3267122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:3267122C>T	uc022aqr.1	-	12	1957	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	CSMD1_uc011kwj.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	524	CUB 3.					integral to membrane		p.E252K(1)|p.E523K(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTCCCTTTTCAATTTCTGAA	0.443000														13			4		0	0	1	0	0
CUEDC1	404093	broad.mit.edu	37	17	55962752	55962752	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:55962752G>A	uc002ivd.1	-	1	893	c.174C>T	c.(172-174)ttC>ttT	p.F58F	CUEDC1_uc002ive.1_Silent_p.F58F	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	Homo sapiens CUE domain containing 1 (CUEDC1), mRNA.	58	CUE.									endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CCATGTTGGGGAACATGGTCT	0.647000														55			33		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32750561	32750561	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:32750561C>T	uc010ezu.3	+	58	11920	c.11786C>T	c.(11785-11787)tCa>tTa	p.S3929L		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3929					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CGTGCTGTGTCAGCTACACCA	0.428000														57			28		0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26789042	26789042	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:26789042G>A	uc001uqo.3	-	4	1322	c.977C>T	c.(976-978)tCc>tTc	p.S326F	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Missense_Mutation_p.S326F|RNF6_uc001uqq.3_Missense_Mutation_p.S326F|RNF6_uc010tdk.2_Intron	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	326	Arg-rich.				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TTCCCTTTGGGAATTATGATA	0.413000														114			53		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698508	103698508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:103698508C>T	uc001vpy.4	-	5	1619	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	341					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTGAAATCCTCCATTTGCCTT	0.363000														80			30		0	0	1	0	0
BMF	90427	broad.mit.edu	37	15	40398107	40398107	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40398107G>A	uc001zkv.3	-	1	267	c.181C>T	c.(181-183)Cga>Tga	p.R61*	BMF_uc001zkt.3_Nonsense_Mutation_p.R61*|BMF_uc001zku.3_Nonsense_Mutation_p.R61*|BMF_uc001zkw.3_Nonsense_Mutation_p.R61*	NM_033503	NP_277038	Q96LC9	BMF_HUMAN	Homo sapiens Bcl2 modifying factor (BMF), transcript variant 2, mRNA.	61				R -> Q (in Ref. 4; AAH69328).	activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		CTGGTGGGTCGAAGGCCAGGG	0.627000														60			25		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17668875	17668875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17668875C>T	uc001baj.2	+	7	941	c.913C>T	c.(913-915)Ccg>Tcg	p.P305S	PADI4_uc009vpc.2_Missense_Mutation_p.P305S	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	305					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CACCCAGCCCCCGCAGGAGGT	0.642000														57			5		0	0	1	0	0
SLC16A3	9123	broad.mit.edu	37	17	80195756	80195756	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:80195756G>A	uc002kea.3	+	3	1260	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	SLC16A3_uc021ufm.1_Silent_p.G370G|SLC16A3_uc002keb.3_Silent_p.G370G|SLC16A3_uc002kec.3_Silent_p.G370G|SLC16A3_uc002ked.3_Silent_p.G370G|SLC16A3_uc021ufn.1_Silent_p.G370G|SLC16A3_uc021ufo.1_Silent_p.G370G	NM_001042422	NP_004198	O15427	MOT4_HUMAN	Homo sapiens solute carrier family 16, member 3 (monocarboxylic acid transporter 4) (SLC16A3), transcript variant 2, mRNA.	370					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TGCTCGTCGGGCCCCCTTCGG	0.701000														25			14		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36091363	36091363	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:36091363G>A	uc004ddk.1	+	3	484	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	100						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						TTCTCTTGAGGAAGGAACAAA	0.413000														46			40		0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78411722	78411722	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:78411722G>A	uc003kfu.4	+	2	271	c.166_splice	c.e2+1	p.V56_splice	BHMT_uc011cti.2_Splice_Site_p.G56_splice	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	56	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)	CCCAGAAGCAGGTTGGTGCAG	0.547000														54			11		0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4896717	4896717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4896717C>T	uc002mbm.3	-	1	467	c.467G>A	c.(466-468)gGa>gAa	p.G156E		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	156					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GGTGGAAGTTCCTTGAACCAA	0.488000														38			20		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196801453	196801453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196801453C>T	uc002utj.4	-	19	3243	c.3142G>A	c.(3142-3144)Gaa>Aaa	p.E1048K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1048	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCAAAAGTTCATTAGATTTT	0.303000														66			6		0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122759828	122759828	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:122759828G>A	uc004etu.3	-	24	3024	c.2992C>T	c.(2992-2994)Cgt>Tgt	p.R998C	THOC2_uc004etw.1_5'Flank|Mir_584_uc022cdq.1_5'Flank	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	998					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						TCAACAAAACGAGCACAGTAA	0.323000														33			30		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17449891	17449891	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17449891G>A	uc001mnc.3	-	13	2111	c.1985C>T	c.(1984-1986)cCa>cTa	p.P662L		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	662					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCTCTGCAGTGGGCCGGTGAG	0.662000														91			31		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1050936	1050936	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:1050936C>T	uc002lqw.4	+	18	2800	c.2569C>T	c.(2569-2571)Ctc>Ttc	p.L857F	ABCA7_uc010dsb.1_Missense_Mutation_p.L719F	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	857	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CTTGAGTGGCCTCTTCCCACC	0.562000														69			34		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65016088	65016088	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:65016088G>A	uc002eoi.3	-	7	1550	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	CDH11_uc010cdn.3_Intron|CDH11_uc002eoj.3_Silent_p.I372I|CDH11_uc010vin.2_Silent_p.I246I|CDH11_uc002eok.1_Non-coding_Transcript	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	372	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTTCTACTGAGATCTTGACGG	0.517000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				94			25		0	0	1	0	0
PPA2	27068	broad.mit.edu	37	4	106317465	106317465	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:106317465G>A	uc003hxl.3	-	8	830	c.810C>T	c.(808-810)tcC>tcT	p.S270S	PPA2_uc003hxn.3_Silent_p.S241S|PPA2_uc003hxo.3_Silent_p.S168S|PPA2_uc003hxp.3_Silent_p.S104S|PPA2_uc003hxq.3_Silent_p.S177S	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	Homo sapiens pyrophosphatase (inorganic) 2 (PPA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	270					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		ATTGATGAGTGGATTTAATAA	0.294000														112			41		0	0	1	0	0
LIN52	91750	broad.mit.edu	37	14	74562682	74562682	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:74562682C>T	uc001xpp.2	+	2	148	c.138C>T	c.(136-138)ttC>ttT	p.F46F	LIN52_uc010asb.2_Non-coding_Transcript	NM_001024674	NP_001019845	Q52LA3	LIN52_HUMAN	Homo sapiens lin-52 homolog (C. elegans) (LIN52), mRNA.	46										breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		CAGCTTCCTTCAAAAGTGTAA	0.313000														27			11		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55948773	55948773	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:55948773C>T	uc003has.3	-	27	3994	c.3692G>A	c.(3691-3693)aGc>aAc	p.S1231N	KDR_uc003hat.1_Missense_Mutation_p.S1231N	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1231					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			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)	CACAGGCCGGCTCTTTCGCTT	0.358000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				112			20		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164741402	164741402	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:164741402G>A	uc003fei.3	-	25	3118	c.3055C>T	c.(3055-3057)Cgt>Tgt	p.R1019C		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1019	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACCTCCACACGAAGAGTTGAG	0.393000										HNSCC(35;0.089)				106			32		0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003810	57003810	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57003810G>A	uc001njo.3	-	0	1118	c.669C>T	c.(667-669)ttC>ttT	p.F223F	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	223						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TTTGGGCGATGAAGAAGTAAC	0.627000														66			20		0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885620	180885620	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:180885620G>A	uc001gok.2	+	1	448	c.381G>A	c.(379-381)ggG>ggA	p.G127G		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	127										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGAGAGCCGGGACTCCATCAG	0.597000														143			10		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50345793	50345793	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:50345793G>A	uc004dpe.2	-	6	3808	c.3782C>T	c.(3781-3783)tCg>tTg	p.S1261L	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1261	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.S1261L(2)		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)					TGAAGGAGGCGAAAAGTGCTG	0.458000														13			17		0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56085986	56085986	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56085986C>T	uc010rjf.2	+	0	204	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATCTGGCTTTCATGGATCTTG	0.383000														164			64		0	0	1	0	0
FAM86EP	348926	broad.mit.edu	37	4	3949556	3949556	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:3949556G>A	uc011bvu.2	-	4		c.779C>T			FAM86EP_uc003ghn.3_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member E, pseudogene (FAM86EP), non-coding RNA.																		GTCACCCTGGGGCCGTCTAAG	0.602000														54			8		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15937163	15937163	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:15937163C>T	uc003jfn.1	+	3	1825	c.1344C>T	c.(1342-1344)atC>atT	p.I448I		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	448					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTTGCAGATCGTGGCCGCCA	0.627000														41			4		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28362215	28362215	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:28362215G>A	uc001zbj.3	-	86	13464	c.13358C>T	c.(13357-13359)tCg>tTg	p.S4453L	HERC2_uc001zbi.3_Missense_Mutation_p.S142L	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4453					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGACCAAACGAGCTCATCTT	0.592000														40			5		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155508777	155508777	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155508777C>T	uc003iod.1	-	3	455	c.397G>A	c.(397-399)Gat>Aat	p.D133N	FGA_uc003ioe.1_Missense_Mutation_p.D133N|FGA_uc003iof.1_Missense_Mutation_p.D133N	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	133					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTTCTCAGATCCTCTGACACT	0.393000														87			30		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1574994	1574994	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:1574994C>T	uc003wpl.3	+	3	1388	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	DLGAP2_uc003wpm.3_Missense_Mutation_p.R431W	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	510					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ATTCCGCTCCCGGAACCAGAG	0.627000														9			5		0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97919993	97919993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:97919993C>T	uc001klp.3	+	5	4771	c.3914C>T	c.(3913-3915)cCt>cTt	p.P1305L	ZNF518A_uc001klo.1_Missense_Mutation_p.P775L|ZNF518A_uc001klq.3_Missense_Mutation_p.P1305L|ZNF518A_uc001klr.3_Missense_Mutation_p.P1305L	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	1305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AAGGCAAAACCTGAAGATGTC	0.383000														24			12		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2336706	2336706	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2336706G>A	uc002cpy.1	-	21	3979	c.3267C>T	c.(3265-3267)gaC>gaT	p.D1089D	ABCA3_uc010bsk.1_Silent_p.D1031D	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	1089					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CGTTAAACTGGTCCTTGGCAG	0.632000														55			16		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54798615	54798615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54798615C>T	uc001sga.3	-	12	1357	c.1289G>A	c.(1288-1290)gGg>gAg	p.G430E	ITGA5_uc010sow.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	430					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCTGGGCCCCCAGGAAATAC	0.617000											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			7		0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	198051774	198051774	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:198051774G>A	uc021vuj.1	-	1	277	c.84C>T	c.(82-84)atC>atT	p.I28I	ANKRD44_uc021vuk.1_Silent_p.I3I|ANKRD44_uc002uub.3_Silent_p.I28I|ANKRD44_uc010zgw.2_5'UTR|ANKRD44_uc002uuc.3_Silent_p.I28I|ANKRD44_uc002uud.2_Silent_p.I28I	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	28							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAGTTTTATGGATGAGCATCC	0.428000														162			74		0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47841699	47841699	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:47841699C>T	uc002xuh.3	+	5	717	c.656C>T	c.(655-657)tCg>tTg	p.S219L		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	219						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.S219S(1)|p.L218L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAAAACCTCTCGTTCCAGGAC	0.418000														118			36		0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390352	8390352	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:8390352C>T	uc001apb.3	+	3	799	c.799C>T	c.(799-801)Cga>Tga	p.R267*	SLC45A1_uc001apc.3_5'UTR	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	267					carbohydrate transport	integral to membrane	symporter activity	p.R267*(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGGACAGCTCCGAGTCATTTA	0.637000														119			39		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942348	144942348	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144942348C>T	uc003zaa.1	-	0	5087	c.5074G>A	c.(5074-5076)Gac>Aac	p.D1692N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1692						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCACGGGGTCGATGATGCCG	0.677000														68			32		0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113352918	113352918	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:113352918C>T	uc003ian.4	+	10	2442	c.2215C>T	c.(2215-2217)Caa>Taa	p.Q739*	ALPK1_uc003iap.4_Nonsense_Mutation_p.Q739*|ALPK1_uc011cfx.2_Nonsense_Mutation_p.Q661*|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Nonsense_Mutation_p.Q567*	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	739							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCCTTCAGTCCAAAAAGAAGA	0.443000														64			37		0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133846313	133846313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:133846313G>A	uc011ecs.2	+	18	2094	c.1778G>A	c.(1777-1779)cGa>cAa	p.R593Q	EYA4_uc011ecq.2_Intron|EYA4_uc011ecr.2_Intron|EYA4_uc003qec.4_Missense_Mutation_p.R587Q|EYA4_uc003qed.4_Intron|EYA4_uc003qee.4_Missense_Mutation_p.R564Q|BC041459_uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	587					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TGCTTTGAACGAATAATGCAA	0.408000														48			38		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19760570	19760570	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19760570G>A	uc002nnh.4	-	17	2543	c.2515C>T	c.(2515-2517)Cgt>Tgt	p.R839C	ATP13A1_uc002nne.3_5'UTR|ATP13A1_uc002nnf.4_Missense_Mutation_p.R207C|ATP13A1_uc002nng.3_Missense_Mutation_p.R721C	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	839					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGAGCCACACGGGCGAACACC	0.672000														56			19		0	0	1	0	0
CECR5	27440	broad.mit.edu	37	22	17624020	17624020	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17624020G>A	uc002zmf.3	-	5	566	c.538_splice	c.e5-1	p.P180_splice	CECR5_uc002zmh.3_Splice_Site_p.P150_splice	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 5 (CECR5), transcript variant 2, mRNA.	180							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CCTCGGGAGGGGCTGCAGAGA	0.577000														45			10		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531463	50531463	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50531463G>A	uc021pqb.1	+	0	873	c.873G>A	c.(871-873)aaG>aaA	p.K291K	C10orf71_uc021pqa.1_Silent_p.K290K|C10orf71_uc021pqc.1_Silent_p.K291K	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	291										endometrium(1)	1						TGGAGAGAAAGGACACAGCTG	0.537000														23			12		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38917285	38917285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38917285G>A	uc021yzh.1	+	80	12296	c.12187G>A	c.(12187-12189)Gaa>Aaa	p.E4063K	DNAH8_uc003ooe.2_Missense_Mutation_p.E3846K|DNAH8_uc003oog.1_Missense_Mutation_p.E295K|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCCAGAGGAGGAAATTATCCC	0.388000														130			32		0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30790020	30790020	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:30790020G>A	uc001rjd.3	-	21	2939	c.2591C>T	c.(2590-2592)tCa>tTa	p.S864L	IPO8_uc010sjt.2_Missense_Mutation_p.S659L|IPO8_uc001rje.1_Missense_Mutation_p.S353L	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	864					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAAAGAATTGAGGGAACAAT	0.438000														92			47		0	0	1	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66123997	66123997	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:66123997C>T	uc002jgq.3	+	5		c.3120C>T								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		CTTTTAACTTCATCGATTTTT	0.313000														7			3		0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113788732	113788732	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113788732C>T	uc002tiq.1	-	3	118	c.14_splice	c.e3-1	p.R5_splice	IL36B_uc002tir.1_Splice_Site_p.R5_splice	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	5					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						TGCTGCCTCCCCTGCCAGATG	0.458000														34			16		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	13959964	13959964	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:13959964C>T	uc003wwq.3	-	6	1325	c.665G>A	c.(664-666)gGg>gAg	p.G222E	SGCZ_uc010lss.3_Missense_Mutation_p.G175E	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	209					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CACCTGGACCCCACGGGGAGC	0.463000														38			7		0	0	1	0	0
KIAA0317	9870	broad.mit.edu	37	14	75150111	75150111	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75150111G>A	uc001xqb.3	-	4	874	c.369C>T	c.(367-369)tcC>tcT	p.S123S	KIAA0317_uc010tut.1_5'UTR|KIAA0317_uc001xqd.1_Non-coding_Transcript	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	123					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		TTACTACGTTGGAATTGGGCT	0.488000														146			32		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857825	9857825	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:9857825G>A	uc010uym.2	-	13	3886	c.3576C>T	c.(3574-3576)acC>acT	p.T1192T	GRIN2A_uc002czo.4_Silent_p.T1192T|GRIN2A_uc010uyn.2_Silent_p.T1035T|GRIN2A_uc002czr.4_Silent_p.T1192T	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1192					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.F1191I(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTCTTTCAAGGTGAAGTGCT	0.542000														248			127		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31565099	31565099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:31565099C>T	uc002rnv.1	-	31	3548	c.3469G>A	c.(3469-3471)Ggg>Agg	p.G1157R		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1157					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CAAGCCACCCCATAGCTGAAG	0.443000														97			37		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70049038	70049038	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70049038G>A	uc001svg.3	-	9	1883	c.1656C>T	c.(1654-1656)ccC>ccT	p.P552P	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Silent_p.P339P|BEST3_uc010stm.2_Silent_p.P446P	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	552						chloride channel complex|plasma membrane	chloride channel activity	p.P552P(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CCTTCTCTGAGGGAGACAGGA	0.542000														80			19		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20071504	20071504	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:20071504G>A	uc002wru.3	+	6	697	c.583G>A	c.(583-585)Gat>Aat	p.D195N	C20orf26_uc010gcw.2_Missense_Mutation_p.D149N|C20orf26_uc010zse.2_Missense_Mutation_p.D195N|C20orf26_uc010zsf.1_Missense_Mutation_p.D195N	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	195								p.D195N(2)		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)		AGACCATGACGATCTCATGCC	0.438000														197			36		0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128829926	128829926	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:128829926C>T	uc010qun.2	+	16	1701	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	DOCK1_uc001ljt.3_Missense_Mutation_p.S525F	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	525	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AAGGATAAATCTGAGAAAATA	0.348000														83			34		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35779419	35779419	+	Missense_Mutation	SNP	G	A	A	rs77036027	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35779419G>A	uc003jjo.3	+	29	4529	c.4418G>A	c.(4417-4419)cGa>cAa	p.R1473Q	SPEF2_uc003jjp.1_Missense_Mutation_p.R959Q|SPEF2_uc003jjr.3_5'UTR	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1473					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GACAGTCTTCGAGATCAGTTC	0.398000														83			11		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325159	31325159	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:31325159C>T	uc010dmg.1	+	11	5402	c.5347C>T	c.(5347-5349)Caa>Taa	p.Q1783*	ASXL3_uc002kxq.2_Nonsense_Mutation_p.Q1490*	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATTGCCTCTTCAAACTACCTC	0.512000														51			20		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54186144	54186144	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:54186144C>T	uc003pcj.2	+	2	615	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	TINAG_uc003pci.3_3'UTR|TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	157					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ATGCCTTGTTCGTTCAGAATT	0.378000														39			13		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72992819	72992819	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:72992819G>A	uc002fck.3	-	1	1899	c.1226C>T	c.(1225-1227)tCg>tTg	p.S409L	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	409					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTCAGTACCGAGCTGGTGAG	0.657000														147			20		0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964834	119964834	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:119964834G>A	uc001ehs.3	+	2	1483	c.710G>A	c.(709-711)aGg>aAg	p.R237K	HSD3B2_uc021ost.1_Missense_Mutation_p.R237K|HSD3B2_uc001eht.3_Missense_Mutation_p.R237K|HSD3B2_uc001ehu.3_Intron	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	237			Missing (in AH2; activity abolished).		androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CTGGCCTTGAGGGCTCTGCGG	0.507000														94			12		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174291	150174291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150174291C>T	uc003whj.3	+	4	1751	c.1421C>T	c.(1420-1422)aCc>aTc	p.T474I		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	474						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)		CAGCCAGTCACCAAGACCAGC	0.602000														43			22		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78340231	78340231	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:78340231G>A	uc003kfs.3	-	5	896	c.890C>T	c.(889-891)tCa>tTa	p.S297L	DMGDH_uc011cte.1_Missense_Mutation_p.S147L|DMGDH_uc011ctf.1_Missense_Mutation_p.S96L|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	297					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GAGATAATATGATCCTTCCAG	0.438000														107			45		0	0	1	0	0
OR6C74	254783	broad.mit.edu	37	12	55641666	55641666	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55641666C>T	uc010spg.2	+	0	595	c.595C>T	c.(595-597)Ctc>Ttc	p.L199F		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						AATGATGCTTCTCTCAGCCAT	0.393000														74			26		0	0	1	0	0
FAS	355	broad.mit.edu	37	10	90770529	90770529	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:90770529G>A	uc001kfr.3	+	5	871	c.525G>A	c.(523-525)ggG>ggA	p.G175G	FAS_uc010qna.2_Non-coding_Transcript|FAS_uc001kft.3_Intron|FAS_uc010qnb.2_Non-coding_Transcript|FAS_uc001kfs.3_Silent_p.G175G|FAS_uc010qnc.2_Intron|FAS_uc010qnd.2_Non-coding_Transcript|FAS_uc010qne.2_Intron|FAS_uc001kfw.3_Missense_Mutation_p.G139D|FAS_uc009xtp.3_Non-coding_Transcript	NM_000043	NP_000034	P25445	TNR6_HUMAN	Homo sapiens Fas (TNF receptor superfamily, member 6) (FAS), transcript variant 1, mRNA.	175					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	p.L174F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		CTAACTTGGGGTGGCTTTGTC	0.348000														306			69		0	0	1	0	0
C14orf166	51637	broad.mit.edu	37	14	52458057	52458057	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:52458057C>T	uc010aod.3	+	1	214	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_016039	NP_057123	Q9Y224	CN166_HUMAN	Homo sapiens chromosome 14 open reading frame 166 (C14orf166), mRNA.	28						microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding			endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					TTAGAAACTTCATCGTTTGGC	0.353000														61			5		0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69095234	69095234	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69095234C>T	uc003hdw.4	-	8	823	c.687_splice	c.e8-1	p.K229_splice		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	229	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AATTATTTTTCCTAGAGGACA	0.323000														56			16		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921425	24921425	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24921425C>T	uc001ywo.3	+	0	885	c.411C>T	c.(409-411)gcC>gcT	p.A137A		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	137					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)		CGGTCAAGGCCAGGAAGCCCA	0.622000														53			17		0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60366656	60366656	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:60366656G>A	uc001czq.3	-	7	1316	c.1311C>T	c.(1309-1311)gcC>gcT	p.A437A		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	437					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					AAGGCATAAAGGCTTCCCTTT	0.522000														84			10		0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125528104	125528104	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:125528104C>T	uc001lhk.1	-	8	1562	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	413					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ATCCGCGTCTCCTCCACCAGG	0.632000														79			42		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34174758	34174758	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34174758C>T	uc001bxm.1	-	21	3684	c.3507G>A	c.(3505-3507)caG>caA	p.Q1169Q	CSMD2_uc001bxn.1_Silent_p.Q1129Q|CSMD2_uc001bxo.1_Silent_p.Q42Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1129	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGGCTGGGTCTGGATGGAGT	0.473000														81			31		0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30889533	30889533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:30889533C>T	uc003xin.3	-	0	785	c.766G>A	c.(766-768)Gat>Aat	p.D256N	WRN_uc003xio.4_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.D256N	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	Homo sapiens purine-rich element binding protein G (PURG), transcript variant A, mRNA.	256						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AGCGGGTCATCGTCTCCACCT	0.453000														65			26		0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76029657	76029657	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:76029657C>T	uc003ufb.3	-	3	769	c.421G>A	c.(421-423)Ggc>Agc	p.G141S	ZP3_uc003ufc.4_Intron	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	141	SRCR 1.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						ACGCCCCAGCCGCGGCTGCCG	0.662000														43			7		0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40313113	40313113	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40313113C>T	uc001zkm.1	+	30	4237	c.4187C>T	c.(4186-4188)tCt>tTt	p.S1396F	EIF2AK4_uc010bbj.1_Missense_Mutation_p.S1097F|EIF2AK4_uc001zkn.1_Missense_Mutation_p.S496F|EIF2AK4_uc001zko.1_Missense_Mutation_p.S277F|EIF2AK4_uc010bbk.1_Non-coding_Transcript	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	1396	Histidyl-tRNA synthetase-like.				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)		ACAATAAGCTCTTGTGACCTC	0.507000														74			27		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055528	75055529	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:75055528_75055529CC>TT	uc001dgg.3	-	11	2181_2182	c.1962_1963GG>AA	c.(1960-1965)gtggag>gtAAag	p.E655K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E449K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	655	Glu-rich.									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						GGCTTGGTCTCCACATCTGCTT	0.401000														95			22		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70031747	70031747	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70031747C>T	uc001opj.3	+	24	2945	c.2640C>T	c.(2638-2640)tcC>tcT	p.S880S	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc010rqk.2_Silent_p.S589S|ANO1_uc010rql.1_Silent_p.S54S	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	880					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						ACGACATCTCCAAGGACTTCT	0.577000														80			16		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740201	37740201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:37740201C>T	uc004aag.1	+	14	1720	c.1676C>T	c.(1675-1677)cCt>cTt	p.P559L	FRMPD1_uc004aah.1_Missense_Mutation_p.P559L|FRMPD1_uc011lqm.2_Missense_Mutation_p.P381L|FRMPD1_uc011lqn.2_Missense_Mutation_p.P428L	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	559						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GAGGAGCAGCCTCCTGGGAAC	0.632000														61			13		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6896531	6896531	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6896531G>A	uc002mfw.3	+	2	255	c.217G>A	c.(217-219)Gat>Aat	p.D73N	EMR1_uc010dvc.3_Missense_Mutation_p.D73N|EMR1_uc010dvb.3_Missense_Mutation_p.D73N|EMR1_uc010xji.2_Missense_Mutation_p.D73N|EMR1_uc010xjj.2_Missense_Mutation_p.D73N	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	73	EGF-like 1.				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)					TCACTTCAAGGATCCAGGAGT	0.478000														41			20		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103063558	103063558	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103063558C>T	uc002tbx.3	+	9	1585	c.1101C>T	c.(1099-1101)acC>acT	p.T367T	IL18RAP_uc010fiz.3_Silent_p.T225T	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	367					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGCTTGGCACCATCGGGACCC	0.592000														226			81		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046521	73046521	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73046521C>T	uc004ebn.2	+	0		c.34482C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TTCTATCCTTCCTGGGTTCTG	0.468000														52			81		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121440964	121440964	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121440964G>A	uc001pxx.3	+	22	3451	c.3322G>A	c.(3322-3324)Gat>Aat	p.D1108N		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1108	LDL-receptor class A 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGACATGAGCGATGAGAGAAA	0.507000														83			34		0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85266876	85266876	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:85266876A>T	uc001szv.3	-	6	1592	c.1099T>A	c.(1099-1101)Tgc>Agc	p.C367S	SLC6A15_uc010sul.2_Missense_Mutation_p.C260S	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	367					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TGTGTAATGCATTTCTCATTT	0.318000														67			23		0	0	1	0	0
LDHA	3939	broad.mit.edu	37	11	18425294	18425294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:18425294C>T	uc001mok.3	+	5	918	c.646C>T	c.(646-648)Cca>Tca	p.P216S	LDHA_uc009yho.2_Missense_Mutation_p.P43S|LDHA_uc001mol.3_Missense_Mutation_p.P216S|LDHA_uc010rdc.1_Missense_Mutation_p.P158S|LDHA_uc021qep.1_Missense_Mutation_p.P216S|LDHA_uc010rdd.2_Missense_Mutation_p.P245S	NM_005566	NP_005557	P00338	LDHA_HUMAN	Homo sapiens lactate dehydrogenase A (LDHA), transcript variant 1, mRNA.	216					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	GACTCTGCACCCAGATTTAGG	0.383000														111			11		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389390	4389390	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4389390G>A	uc010qye.2	-	0	227	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGATGAGCAGGCTGTTCCCA	0.527000														27			13		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32712801	32712801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:32712801C>T	uc010ezu.3	+	40	8035	c.7901C>T	c.(7900-7902)tCa>tTa	p.S2634L		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2634					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATACAGTTATCATCTGTCCCA	0.368000														88			44		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30803094	30803094	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:30803094G>A	uc010xbr.1	-	16	2050	c.1908C>T	c.(1906-1908)acC>acT	p.T636T	C18orf34_uc010dme.1_Silent_p.T150T|C18orf34_uc002kxn.2_Silent_p.T636T|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Intron|C18orf34_uc002kxp.3_Silent_p.T636T	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	636										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						ATGCATCAAGGGTTTTCTTCC	0.279000														43			8		0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23380554	23380554	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23380554G>A	uc001whg.3	-	1	248	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	RBM23_uc001whh.3_Missense_Mutation_p.P17S|RBM23_uc001whi.3_Missense_Mutation_p.P17S|RBM23_uc010tne.2_5'UTR|RBM23_uc001whj.3_Intron|RBM23_uc001whk.1_Missense_Mutation_p.P17S	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	Homo sapiens RNA binding motif protein 23 (RBM23), transcript variant 1, mRNA.	17					mRNA processing	nucleus	RNA binding|nucleotide binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TTTTTATAGGGAGCTTCCAGC	0.368000														207			49		0	0	1	0	0
CD19	930	broad.mit.edu	37	16	28944640	28944640	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:28944640C>T	uc010byo.2	+	3	707	c.645C>T	c.(643-645)acC>acT	p.T215T	NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Silent_p.T215T	NM_001178098	NP_001171569	P15391	CD19_HUMAN	Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA.	215	Ig-like C2-type 2.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						TCTCCTGGACCCATGTGCACC	0.622000														33			17		0	0	1	0	0
SIAE	54414	broad.mit.edu	37	11	124530644	124530644	+	Silent	SNP	G	A	A	rs147638217		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124530644G>A	uc001qan.3	-	2	458	c.285C>T	c.(283-285)ttC>ttT	p.F95F	SIAE_uc021qru.1_Silent_p.F60F|SIAE_uc001qao.2_Silent_p.F95F	NM_170601	NP_001186851	Q9HAT2	SIAE_HUMAN	Homo sapiens sialic acid acetylesterase (SIAE), transcript variant 1, mRNA.	95						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	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;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		CCATCACTTCGAAAGGTCCTC	0.443000														183			80		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756742	56756742	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56756742G>A	uc010rjp.2	+	0	354	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TGGCTATGATGGCAGTGGATC	0.418000														82			50		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394038	233394038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:233394038C>T	uc001hvl.2	-	4	1805	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	PCNXL2_uc009xfu.3_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.	524						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)				TGCCTCTTTTCATGGCTGGAC	0.502000														50			19		0	0	1	0	0
DPY19L4	286148	broad.mit.edu	37	8	95777493	95777493	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:95777493C>T	uc003ygx.2	+	8	1077	c.953C>T	c.(952-954)tCt>tTt	p.S318F		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	318						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TTGTTGGTATCTCCTTTATTA	0.289000														145			51		0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137600082	137600082	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:137600082G>A	uc003lcn.3	-	1	387	c.247C>T	c.(247-249)Cct>Tct	p.P83S	GFRA3_uc003lco.3_Missense_Mutation_p.P83S	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	83					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGTCAGCAGGGACCGAAGGC	0.597000														57			27		0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24185163	24185163	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:24185163C>T	uc003ccz.4	-	8	1087	c.567G>A	c.(565-567)agG>agA	p.R189R	THRB_uc010hfe.3_Silent_p.R189R|THRB_uc003ccy.4_Silent_p.R189R|THRB_uc003ccx.4_Silent_p.R189R	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	189					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CTATCAGCTTCCTCTTGGCCA	0.562000														66			25		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93797595	93797595	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:93797595G>A	uc001pep.2	+	3	884	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	243	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTACCTCAATGAAAATATCAA	0.398000														39			16		0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5340055	5340055	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:5340055C>T	uc003sod.3	+	9	1373	c.1212C>T	c.(1210-1212)atC>atT	p.I404I	SLC29A4_uc003soc.3_Silent_p.I404I|SLC29A4_uc003soe.3_Silent_p.I390I	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	404					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CTCTGCAGATCCTGGCAGCCC	0.667000														52			22		0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819707	50819707	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50819707C>T	uc001jhw.3	+	0	1361	c.921C>T	c.(919-921)ttC>ttT	p.F307F	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	307					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCCTCGCCTTCCTCGAACCCA	0.637000														77			48		0	0	1	0	0
C21orf128	150147	broad.mit.edu	37	21	43524025	43524025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43524025G>A	uc002zak.2	-	1	360	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S	UMODL1_uc002zad.1_Silent_p.G377G|UMODL1_uc002zae.1_Silent_p.G377G|UMODL1_uc002zaf.1_Silent_p.G449G|UMODL1_uc002zag.1_Silent_p.G449G|UMODL1_uc010gow.1_Silent_p.G241G|UMODL1_uc002zai.1_Silent_p.G100G|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Silent_p.G100G|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Silent_p.G194G					Homo sapiens chromosome 21 open reading frame 128 (C21orf128), non-coding RNA.											lung(4)	4						ACCGAAGTGGGAAGCTGAGAA	0.567000														100			40		0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158634709	158634709	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:158634709G>A	uc002tzn.3	-	4	907	c.477C>T	c.(475-477)ccC>ccT	p.P159P	ACVR1_uc002tzm.3_Silent_p.P159P|ACVR1_uc010fog.2_Silent_p.P159P	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN	Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	159					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	ATP binding|SMAD binding|activin binding|follistatin binding|metal ion binding|protein homodimerization activity|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CCACGTCTCGGGGATTGAGGC	0.483000														40			16		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39504152	39504152	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:39504152G>A	uc003thb.2	+	10	2086	c.1943G>A	c.(1942-1944)cGa>cAa	p.R648Q	POU6F2_uc022acb.1_Missense_Mutation_p.R612Q	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	648					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R648R(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AACTATGACCGAGAAGTAGTT	0.498000														21			4		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225528	21225528	+	Missense_Mutation	SNP	C	T	T	rs61743313	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21225528C>T	uc002red.3	-	28	12894	c.12766G>A	c.(12766-12768)Gag>Aag	p.E4256K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4256					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCCTTAACTCGAAAGGAAGT	0.378000														106			38		0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25264767	25264767	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:25264767C>T	uc002wup.3	+	13	1757	c.1648C>T	c.(1648-1650)Ctg>Ttg	p.L550L		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	550					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CTCGGCCTTCCTGGAGAAGGA	0.552000														78			36		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102494353	102494353	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:102494353C>T	uc001yks.2	+	47	9507	c.9343C>T	c.(9343-9345)Ctg>Ttg	p.L3115L		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3115	AAA 4 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TAAGATGGATCTGGAGAAGCC	0.478000														234			15		0	0	1	0	0
MYOZ1	58529	broad.mit.edu	37	10	75399765	75399765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:75399765G>A	uc001jur.3	-	1	376	c.11C>T	c.(10-12)tCa>tTa	p.S4L		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	Homo sapiens myozenin 1 (MYOZ1), mRNA.	4					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CGGGGTTCCTGAGAGCGGCAT	0.542000														98			14		0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111426819	111426819	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:111426819G>A	uc003dya.3	+	1	780	c.210G>A	c.(208-210)gtG>gtA	p.V70V	PLCXD2_uc003dxz.3_Silent_p.V70V	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	70	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						AGTCCCCAGTGGGGCCTGACC	0.493000														23			9		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22040797	22040797	+	Missense_Mutation	SNP	G	A	A	rs75460545	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:22040797G>A	uc001rfh.3	-	12	1894	c.1874C>T	c.(1873-1875)tCg>tTg	p.S625L	ABCC9_uc001rfi.1_Missense_Mutation_p.S625L	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	625					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.S625L(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAAGGAAGCGAACTTTCACC	0.398000														91			24		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676384	20676384	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:20676384G>A	uc001mqd.3	+	15	2637	c.2364G>A	c.(2362-2364)gtG>gtA	p.V788V	SLC6A5_uc009yic.3_Silent_p.V553V	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	788					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AACTGCCAGTGAAGGATTTGG	0.532000														143			64		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15977991	15977991	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:15977991G>A	uc010lsu.3	-	8	1276	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	MSR1_uc003wwz.3_Silent_p.V386V|MSR1_uc003wxa.3_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	386	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCCTACAGACGACCTGTCCAA	0.542000														115			50		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54784340	54784340	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54784340G>A	uc002qfb.3	-	1	278	c.12C>T	c.(10-12)atC>atT	p.I4I	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.I4I|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.I4I|LILRB2_uc010yet.2_5'UTR|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	4					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGACTGTGACGATGGGGGTCA	0.587000														144			56		0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11363309	11363309	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:11363309C>T	uc001ikk.2	+	11	1450	c.1290C>T	c.(1288-1290)agC>agT	p.S430S	CELF2_uc010qbj.1_Silent_p.S411S|CELF2_uc001iki.4_Silent_p.S405S|CELF2_uc001ikl.4_Silent_p.S418S|CELF2_uc010qbl.1_Silent_p.S381S|CELF2_uc010qbm.1_Silent_p.S177S|CELF2_uc001iko.4_Silent_p.S385S|CELF2_uc001ikp.4_Silent_p.S387S|CELF2_uc010qbo.1_Silent_p.S300S|CELF2_uc010qbp.1_Silent_p.S177S	NM_001083591	NP_001077060	O95319	CELF2_HUMAN	Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA.	405	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ACAGCCAGAGCCTGCTGCAGC	0.657000														41			18		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719097	140719097	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140719097G>A	uc003ljk.2	+	0	744	c.559G>A	c.(559-561)Gat>Aat	p.D187N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.D187N	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	187	Cadherin 2.				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)			AAGGGGAGCTGATGGGAACAA	0.567000														108			12		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110826801	110826801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:110826801C>T	uc001vqw.4	-	38	3520	c.3398G>A	c.(3397-3399)gGa>gAa	p.G1133E		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1133	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ACCTGCTTCTCCTTTGACACC	0.547000														41			16		0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127253907	127253908	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:127253907_127253908GG>AA	uc010lld.1	-	3	646_647	c.440_441CC>TT	c.(439-441)ccc>cTT	p.P147L	PAX4_uc003vmf.2_Missense_Mutation_p.P145L|PAX4_uc003vmg.1_Missense_Mutation_p.P147L|PAX4_uc003vmh.3_Missense_Mutation_p.P145L	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	155					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P147L(2)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGCCACTATGGGGAGTGAGGAC	0.564000														51			13		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413973	22413973	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22413973C>T	uc001yuf.3	+	0	512	c.272C>T	c.(271-273)cCa>cTa	p.P91L	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TTTTGTGGCCCAAACCAGCTG	0.512000														114			20		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238445	3238445	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:3238445C>T	uc004crg.4	-	4	5438	c.5281G>A	c.(5281-5283)Gag>Aag	p.E1761K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1761						extracellular region				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)				ACTTTTCTCTCTCTCATTACT	0.507000														11			18		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13423582	13423582	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:13423582G>A	uc002mwy.3	-	11	1805	c.1569C>T	c.(1567-1569)ttC>ttT	p.F523F	CACNA1A_uc010dzc.2_Silent_p.F49F|CACNA1A_uc010xnd.2_Silent_p.F523F|CACNA1A_uc021ups.1_Silent_p.F523F|CACNA1A_uc010xne.2_Silent_p.F523F|CACNA1A_uc010dze.2_Silent_p.F523F|CACNA1A_uc021upt.1_Silent_p.F524F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	524					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CTAAGAAAATGAATTCTGCAT	0.458000														38			11		0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486995	125486995	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125486995G>A	uc004bmu.1	+	0	727	c.727G>A	c.(727-729)Ggc>Agc	p.G243S		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CTCTACCTGTGGCTCCCACCT	0.537000														148			33		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594212	179594212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179594212C>T	uc021vsy.1	-	60	15164	c.14939G>A	c.(14938-14940)gGa>gAa	p.G4980E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G1641E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5907	Ig-like 30.						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)			CGGAGGTGTTCCCGTAACTTC	0.443000														104			27		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88669548	88669548	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:88669548G>A	uc002bme.2	-	12	1656	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	NTRK3_uc002bmh.2_Silent_p.F442F|NTRK3_uc002bmf.2_Silent_p.F450F|NTRK3_uc021sua.1_Silent_p.F442F|NTRK3_uc010upl.1_Silent_p.F352F|NTRK3_uc010bnh.1_Silent_p.F442F|NTRK3_uc002bmg.3_Silent_p.F450F	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	450					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGATCATGACGAAGAGAACCA	0.453000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				58			22		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592510	179592510	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179592510C>T	uc021vsy.1	-	64	16288	c.16063G>A	c.(16063-16065)Gga>Aga	p.G5355R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G2016R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6282	Ig-like 34.						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)			GGTGGTGTTCCTTTTAGTATT	0.393000														112			48		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057754	9057754	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9057754G>A	uc002mkp.3	-	2	29896	c.29692C>T	c.(29692-29694)Ctt>Ttt	p.L9898F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9900	Ser-rich.|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						ACTCCATAAAGGACTGCACTT	0.468000														89			28		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160141149	160141149	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160141149G>A	uc001fve.4	+	10	2079	c.1600G>A	c.(1600-1602)Gag>Aag	p.E534K	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.E37K	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	534					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAATGGGCAGGAGTACTCAAT	0.512000														61			25		0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149058	73149058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:73149058C>T	uc003hgk.2	-	21	3450	c.3413G>A	c.(3412-3414)gGa>gAa	p.G1138E		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	1138					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGTCTTACTTCCTGCTTGCTG	0.512000														88			47		0	0	1	0	0
RASL11A	387496	broad.mit.edu	37	13	27847178	27847178	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:27847178C>T	uc001urd.1	+	3	894	c.276C>T	c.(274-276)ctC>ctT	p.L92L		NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	Homo sapiens RAS-like, family 11, member A (RASL11A), mRNA.	92	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		AAGACAGCCTCCCCCAGGTCG	0.488000														66			25		0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21414830	21414830	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:21414830C>T	uc001iqm.3	-	1	441	c.390G>A	c.(388-390)ggG>ggA	p.G130G	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_3'UTR	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	130										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						ATCCATGCTTCCCTTTGGTTA	0.463000														114			55		0	0	1	0	0
QRFPR	84109	broad.mit.edu	37	4	122250491	122250491	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:122250491G>A	uc010inj.1	-	5	1653	c.1274C>T	c.(1273-1275)tCt>tTt	p.S425F	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_3'UTR	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.	425						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GTCTAAAGGAGAATTCTCAGC	0.363000														109			25		0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6866924	6866924	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6866924G>A	uc001met.1	+	0	11	c.11G>A	c.(10-12)gGa>gAa	p.G4E		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGGCTATAGGAAACTGGACA	0.383000														206			66		0	0	1	0	0
SPINK7	84651	broad.mit.edu	37	5	147693756	147693757	+	Missense_Mutation	DNP	GG	AA	AA	rs138587974		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:147693756_147693757GG>AA	uc003lpd.3	+	2	238_239	c.181_182GG>AA	c.(181-183)ggg>AAg	p.G61K	AK054753_uc003lpb.1_Intron	NM_032566	NP_115955	P58062	ISK7_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 7 (putative) (SPINK7), mRNA.	61	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCACCTATGGGAATGAATGT	0.465000														123			17		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54894350	54894350	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54894350G>A	uc001sgc.4	+	2	326	c.247G>A	c.(247-249)Gag>Aag	p.E83K	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.E33K	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	83					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity	p.E83K(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGAAAAAGCCGAGATAATTAG	0.383000														174			46		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73044380	73044380	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73044380C>T	uc004ebn.2	+	0		c.32341C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GTATTTAAACCCTTGGTTTGT	0.318000														6			9		0	0	1	0	0
GSTM1	2944	broad.mit.edu	37	1	110230845	110230845	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110230845A>T	uc001dyk.3	+	1	168	c.90A>T	c.(88-90)gaA>gaT	p.E30D	GSTM1_uc001dyl.3_Missense_Mutation_p.E30D	NM_000561	NP_000552	P09488	GSTM1_HUMAN	Homo sapiens glutathione S-transferase mu 1 (GSTM1), transcript variant 1, mRNA.	30	GST N-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(1)|lung(1)|ovary(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GCTATGAGGAAAAGAAGTACA	0.607000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					56			72		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8660990	8660990	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8660990G>A	uc002mkj.1	-	10	1578	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	ADAMTS10_uc002mkk.1_Missense_Mutation_p.S67F	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	435	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						ACGGCTGCAGGATGACCACAC	0.597000														97			51		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117993048	117993048	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:117993048G>A	uc001two.2	-	8	1412	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	482					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCGTAGAGGGTTGTTGATG	0.493000														21			11		0	0	1	0	0
WNT8A	7478	broad.mit.edu	37	5	137423581	137423581	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:137423581G>A	uc011cyk.1	+	2	618	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	WNT8A_uc011cyj.1_Missense_Mutation_p.E128K|WNT8A_uc003lcd.1_Missense_Mutation_p.E110K			Q9H1J5	WNT8A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8A (WNT8A), mRNA.	110					Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGGTGACTTCGAAAACTGTGG	0.483000														175			66		0	0	1	0	0
BCL10	8915	broad.mit.edu	37	1	85733503	85733503	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:85733503G>A	uc021opd.1	-	2	1061	c.509C>T	c.(508-510)tCt>tTt	p.S170F		NM_003921	NP_003912	O95999	BCL10_HUMAN	Homo sapiens B-cell CLL/lymphoma 10 (BCL10), mRNA.	170					T cell receptor signaling pathway|apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		ATTCAGAGAAGAATTAGTAGA	0.448000			T	IGH@	MALT									150			20		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933793	44933793	+	Missense_Mutation	SNP	C	T	T	rs148444351	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44933793C>T	uc002oze.1	-	5	1597	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	ZNF229_uc010ejk.1_Missense_Mutation_p.R42Q|ZNF229_uc010ejl.1_Missense_Mutation_p.R382Q	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GTTTGAACTTCGACCAAATGC	0.478000														175			13		0	0	1	0	0
NAIP	4671	broad.mit.edu	37	5	70308413	70308413	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:70308413C>T	uc003kar.1	-	3	1048	c.330G>A	c.(328-330)acG>acA	p.T110T	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Silent_p.T110T|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	110					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGGGGAGTCTCGTGAGGCCGG	0.493000														113			26		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140524	56140524	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:56140524C>T	uc002xyn.4	+	9	1696	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	PCK1_uc010zzm.2_Silent_p.I194I	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	511					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TGCCCAAGATCTTCCATGTCA	0.562000														58			19		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90349346	90349346	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:90349346C>T	uc002bop.4	-	1	761	c.469G>A	c.(469-471)Gag>Aag	p.E157K		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	157	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.E157Q(2)|p.V156L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TCGGTGGGCTCCACCAGCTCA	0.617000														103			22		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328076	80328076	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:80328076C>T	uc003hlu.3	-	0	1297	c.1279G>A	c.(1279-1281)Gga>Aga	p.G427R		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	427					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.G426R(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TTGGTCATTCCTCCATCTACC	0.418000														127			17		0	0	1	0	0
VLDLR	7436	broad.mit.edu	37	9	2646354	2646354	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:2646354T>C	uc003zhk.1	+	10	1902	c.1505T>C	c.(1504-1506)gTt>gCt	p.V502A	VLDLR_uc003zhl.1_Missense_Mutation_p.V502A|VLDLR_uc003zhm.1_Intron	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	502					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GATGACAAGGTTGGTAGACAT	0.393000														45			35		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37324718	37324718	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:37324718G>A	uc001caz.2	-	6	1230	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	GRIK3_uc001cba.1_Silent_p.F365F	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	365					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCTCCTTGATGAAGTTCATGA	0.617000														94			18		0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173787010	173787010	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:173787010G>A	uc002uhv.4	+	6	705	c.518_splice	c.e6-1	p.R173_splice	RAPGEF4_uc002uhu.2_Splice_Site_p.R173_splice|RAPGEF4_uc002uhw.4_Splice_Site_p.R29_splice|RAPGEF4_uc010zec.1_Splice_Site_p.R20_splice|RAPGEF4_uc010zed.1_Splice_Site_p.R20_splice|RAPGEF4_uc010zee.1_Splice_Site_p.R20_splice|RAPGEF4_uc010fqo.2_Splice_Site_p.R20_splice|RAPGEF4_uc010zef.1_5'UTR	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	173					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CTCCTTTAGGGATTCCTGACA	0.368000														207			82		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13922279	13922279	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13922279G>A	uc003jfd.2	-	4	639	c.597C>T	c.(595-597)ttC>ttT	p.F199F	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	199	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)					GGGAGCTCAAGAACTCCTGGC	0.542000									Kartagener syndrome					34			17		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98192614	98192614	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98192614C>T	uc001kml.2	-	3	711	c.470G>A	c.(469-471)aGg>aAg	p.R157K	TLL2_uc009xvf.2_Intron	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	157	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGGCCATATCCTCTCTGTCCT	0.582000														77			26		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46263989	46263989	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:46263989G>A	uc011bzc.1	-	7	1260	c.848C>T	c.(847-849)aCc>aTc	p.T283I	GABRA2_uc003gxc.3_Missense_Mutation_p.T338I|GABRA2_uc010igc.2_Missense_Mutation_p.T338I|GABRA2_uc003gxe.3_Missense_Mutation_p.T338I			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	338					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCCTCTTTTGGTGAAGTAATT	0.398000														108			34		0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234442224	234442224	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234442224G>A	uc010zmr.2	-	9	1405	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	USP40_uc010zmt.1_Nonsense_Mutation_p.Q113*	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	457					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CTGATTGGCTGGACTTTAGAA	0.423000														74			31		0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182780880	182780880	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:182780880C>T	uc002uoi.3	+	10	2835	c.2513C>T	c.(2512-2514)cCa>cTa	p.P838L	SSFA2_uc002uoh.3_Missense_Mutation_p.P838L|SSFA2_uc002uoj.3_Missense_Mutation_p.P838L|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.P685L|SSFA2_uc002uol.3_Missense_Mutation_p.P685L|SSFA2_uc002uom.3_Missense_Mutation_p.P306L	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	838						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GCTCCACCACCAATGTCTCAG	0.547000														98			32		0	0	1	0	0
CIB2	10518	broad.mit.edu	37	15	78401619	78401619	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:78401619C>T	uc010ums.1	-	3	625	c.304G>A	c.(304-306)Gct>Act	p.A102T	CIB2_uc002bdb.1_Missense_Mutation_p.A102T|CIB2_uc002bdc.1_Missense_Mutation_p.A59T	NM_006383	NP_006374	O75838	CIB2_HUMAN	Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.	102							calcium ion binding	p.S101L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						TCTCGGGGAGCCGACTCGCAG	0.552000														75			25		0	0	1	0	0
CCL25	6370	broad.mit.edu	37	19	8121312	8121312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8121312G>A	uc002mjd.3	+	3	365	c.254G>A	c.(253-255)aGa>aAa	p.R85K	CCL25_uc002mjc.4_Missense_Mutation_p.R85K|CCL25_uc010dvy.1_Intron	NM_005624	NP_005615	O15444	CCL25_HUMAN	Homo sapiens chemokine (C-C motif) ligand 25 (CCL25), transcript variant 1, mRNA.	85					G-protein coupled receptor protein signaling pathway|chemotaxis|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						GAGGTGCAGAGAGCCATGAAG	0.557000														32			11		0	0	1	0	0
TMEM19	55266	broad.mit.edu	37	12	72092798	72092798	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:72092798C>T	uc001sws.3	+	4	1339	c.756C>T	c.(754-756)gcC>gcT	p.A252A	TMEM19_uc001swr.1_Silent_p.A238A	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	252						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		ACATTTCTGCCCCGCAGTGGC	0.453000														78			46		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141215075	141215075	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:141215075G>A	uc002tvj.1	-	60	10743	c.9771C>T	c.(9769-9771)gcC>gcT	p.A3257A		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3257					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATCTGTGATGGCATGCCATG	0.403000										TSP Lung(27;0.18)				197			20		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50903491	50903491	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:50903491G>A	uc003blh.3	-	11	1466	c.1271C>T	c.(1270-1272)gCc>gTc	p.A424V	SBF1_uc011arx.2_Missense_Mutation_p.A88V|SBF1_uc003bli.2_Missense_Mutation_p.A425V	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	424	dDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCCAGCAAAGGCCATGCCCTC	0.647000														27			15		0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028273	170028273	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:170028273G>A	uc003isa.1	-	10	2558	c.2223C>T	c.(2221-2223)acC>acT	p.T741T		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	741						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CCACTTCTAGGGTGGGCGATG	0.577000														45			15		0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39394370	39394370	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:39394370G>A	uc003jlx.3	-	1	584	c.53C>T	c.(52-54)gCc>gTc	p.A18V	DAB2_uc003jlw.3_Missense_Mutation_p.A18V	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	18					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTTTGGTGCGGCCTGTTGGTC	0.493000														59			31		0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356729	37356729	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:37356729G>A	uc002xjc.3	+	1	1288	c.1025G>A	c.(1024-1026)tGg>tAg	p.W342*		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	342					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	ATGATGAACTGGACGCACATC	0.592000														47			15		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50090791	50090791	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:50090791C>T	uc003jon.4	+	12	1150	c.968C>T	c.(967-969)tCc>tTc	p.S323F	PARP8_uc011cpz.2_Missense_Mutation_p.S215F|PARP8_uc003joo.3_Missense_Mutation_p.S323F|PARP8_uc003jop.3_Missense_Mutation_p.S323F	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	323						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGGACTTGTTCCAGCACAGTC	0.527000														64			20		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26697485	26697485	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:26697485C>T	uc002rhk.3	-	25	3311	c.3184G>A	c.(3184-3186)Gag>Aag	p.E1062K	OTOF_uc010yla.2_5'Flank|OTOF_uc002rhh.3_Missense_Mutation_p.E315K|OTOF_uc002rhi.3_Missense_Mutation_p.E372K|OTOF_uc002rhj.3_Missense_Mutation_p.E315K	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1062					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTACGCCTCGTCTGCCATC	0.612000														40			15		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28805325	28805325	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:28805325G>A	uc002rmb.2	+	24	1730	c.1686G>A	c.(1684-1686)agG>agA	p.R562R	PLB1_uc010ezj.2_Silent_p.R551R|PLB1_uc002rmc.3_Silent_p.R250R|PLB1_uc002rmd.1_Silent_p.R72R	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	562	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCAACCTGAGGGAGCTGTACC	0.517000														12			5		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43325417	43325417	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43325417G>A	uc003oux.3	-	2	713	c.635C>T	c.(634-636)cCt>cTt	p.P212L	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	212					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGGACTGAGAGGCCCTTCCTC	0.478000														101			35		0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207297708	207297708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207297708G>A	uc001hfo.3	+	5	897	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	235	Sushi 3.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TCCTACCTGTGAAAGTAAGTC	0.418000														51			15		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100010	110100010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110100010C>T	uc003ymz.4	+	0	358	c.269C>T	c.(268-270)tCc>tTc	p.S90F		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	90						integral to plasma membrane	thyrotropin-releasing hormone receptor activity	p.G89S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ATCTACGGTTCCTGGGTCTAT	0.498000														101			20		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78443370	78443370	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:78443370C>T	uc001ozl.4	-	20	3592	c.3129G>A	c.(3127-3129)ccG>ccA	p.P1043P		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1043					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CCTGAATTTCCGGCACAATGG	0.517000														39			16		0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59182605	59182605	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:59182605G>A	uc002afp.3	-	14	2042	c.1954C>T	c.(1954-1956)Cgt>Tgt	p.R652C	SLTM_uc002afn.3_Missense_Mutation_p.R194C|SLTM_uc002afo.3_Missense_Mutation_p.R634C|SLTM_uc002afq.3_Missense_Mutation_p.R221C|SLTM_uc010bgd.3_Missense_Mutation_p.R221C	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	652	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCCCGTTCACGAATTATTCTA	0.433000														105			52		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94069757	94069757	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94069757C>T	uc001ybv.1	+	22	3299	c.3216C>T	c.(3214-3216)tcC>tcT	p.S1072S	UNC79_uc001ybs.1_Silent_p.S1072S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1249						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						CCCTGACCTCCAAAATTCGTT	0.478000														45			10		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111667826	111667826	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:111667826G>A	uc010hqa.3	+	9	2946	c.2535G>A	c.(2533-2535)acG>acA	p.T845T	PHLDB2_uc003dyc.3_Silent_p.T829T|PHLDB2_uc003dyd.3_Silent_p.T802T|PHLDB2_uc003dyg.3_Silent_p.T845T|PHLDB2_uc003dyh.3_Silent_p.T802T|PHLDB2_uc003dyi.3_Intron	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	845						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCAATTCCACGAATCTATCCC	0.478000														59			29		0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023414	6023414	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6023414C>T	uc010qzv.2	-	0	965	c.965G>A	c.(964-966)aGa>aAa	p.R322K		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAGGAATTCTCTTCCTGGC	0.532000														43			15		0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39796071	39796071	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:39796071C>T	uc001wvi.4	+	19	2027	c.1691C>T	c.(1690-1692)tCa>tTa	p.S564L	CTAGE5_uc010tqe.1_Missense_Mutation_p.S521L|CTAGE5_uc001wuy.4_Missense_Mutation_p.S479L|CTAGE5_uc001wuz.4_Missense_Mutation_p.S547L|CTAGE5_uc001wva.4_Missense_Mutation_p.S530L|CTAGE5_uc001wvb.4_Missense_Mutation_p.S487L|CTAGE5_uc001wvc.4_Missense_Mutation_p.S461L|CTAGE5_uc001wvf.4_Missense_Mutation_p.S484L|CTAGE5_uc001wvg.4_Missense_Mutation_p.S559L|CTAGE5_uc001wvh.4_Missense_Mutation_p.S516L|CTAGE5_uc010amz.3_Missense_Mutation_p.S175L|CTAGE5_uc001wvj.4_Missense_Mutation_p.S530L	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	559	Pro-rich.						enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TAATTAGGCTCACGAGGCCCA	0.358000														93			21		0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263316	248263316	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248263316C>T	uc001ids.3	+	2	976	c.639C>T	c.(637-639)atC>atT	p.I213I	OR2L13_uc021pmc.1_Silent_p.I213I	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.G212D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TCATTGGCATCACTTCTTCCT	0.428000														82			26		0	0	1	0	0
SULT4A1	25830	broad.mit.edu	37	22	44234858	44234858	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:44234858G>A	uc003bee.1	-	3	513	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	SULT4A1_uc003bed.1_Missense_Mutation_p.R54C|SULT4A1_uc003bef.1_Non-coding_Transcript|SULT4A1_uc011aqb.1_Intron	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	Homo sapiens sulfotransferase family 4A, member 1 (SULT4A1), mRNA.	133					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		TTGGGGTTGCGAGCCATATAG	0.572000														57			21		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61932087	61932087	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61932087G>A	uc001jky.3	-	20	2795	c.2457C>T	c.(2455-2457)acC>acT	p.T819T	ANK3_uc001jkx.3_5'UTR|ANK3_uc010qih.2_Silent_p.T802T|ANK3_uc001jkz.4_Silent_p.T813T|ANK3_uc001jlb.1_Silent_p.T348T|ANK3_uc001jlc.1_Silent_p.T480T	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	819					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						TGGTCTCTTCGGTCACTATCT	0.483000														75			19		0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18529400	18529400	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:18529400C>T	uc002wra.2	+	15	2352	c.1891C>T	c.(1891-1893)Cat>Tat	p.H631Y	SEC23B_uc010zsb.2_Missense_Mutation_p.H613Y|SEC23B_uc002wrb.2_Missense_Mutation_p.H631Y|SEC23B_uc002wqz.2_Missense_Mutation_p.H631Y|SEC23B_uc002wrc.2_Missense_Mutation_p.H631Y	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	631					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TTACTCCTTTCATGGGCCACC	0.448000														72			8		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	124097411	124097411	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:124097411C>T	uc010nqy.3	-	0	256	c.192G>A	c.(190-192)agG>agA	p.R64R	ODZ1_uc011muj.2_Silent_p.R64R|ODZ1_uc004euj.3_Silent_p.R64R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	64	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTACTTCTTTCCTCTTTCTAC	0.358000														119			23		0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166891946	166891946	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:166891946C>T	uc001gdx.2	-	7	1151	c.1095G>A	c.(1093-1095)ggG>ggA	p.G365G		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	365						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TCTCCAAGTCCCCAGACACAG	0.532000														198			36		0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46062465	46062465	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46062465G>A	uc003cpe.3	-	2	1199	c.975C>T	c.(973-975)ttC>ttT	p.F325F	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Silent_p.F325F|XCR1_uc021wwx.1_Silent_p.F325F	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	325					G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCTCATAGGCGAAGGCACCAG	0.647000														10			5		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125874326	125874326	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:125874326G>A	uc003eim.1	-	4	739	c.549C>T	c.(547-549)atC>atT	p.I183I	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.3_5'UTR|ALDH1L1_uc010hsf.1_Silent_p.I209I|ALDH1L1_uc003eip.1_Silent_p.I90I|ALDH1L1_uc011bkj.1_Silent_p.I8I	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	183	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGCCCTCAGCGATCAGCCTCA	0.627000														37			17		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65262303	65262303	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:65262303C>T	uc001xht.3	-	10	1447	c.1396G>A	c.(1396-1398)Gcc>Acc	p.A466T	SPTB_uc001xhr.3_Missense_Mutation_p.A466T|SPTB_uc001xhs.3_Missense_Mutation_p.A466T|SPTB_uc001xhu.3_Missense_Mutation_p.A466T	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	466					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTCTCGATGGCCTCATGCTTC	0.597000														69			10		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605356	140605356	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140605356G>A	uc003ljb.3	+	0	2279	c.2279G>A	c.(2278-2280)gGg>gAg	p.G760E		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	760					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGTTCCGGGACAAATGAG	0.512000														122			43		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159560422	159560422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:159560422G>A	uc003ipz.3	+	13	1317	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R	RXFP1_uc010iqj.2_Missense_Mutation_p.G181R|RXFP1_uc010iqk.3_Missense_Mutation_p.G220R|RXFP1_uc011cja.2_Missense_Mutation_p.G247R|RXFP1_uc010iqo.3_Missense_Mutation_p.G304R|RXFP1_uc011cjb.2_Missense_Mutation_p.G250R|RXFP1_uc011cjc.2_Missense_Mutation_p.G271R|RXFP1_uc011cjd.2_Missense_Mutation_p.G271R|RXFP1_uc010iql.3_Missense_Mutation_p.G196R|RXFP1_uc011cje.2_Missense_Mutation_p.G379R|RXFP1_uc010iqm.3_Missense_Mutation_p.G319R|RXFP1_uc011cjf.2_Missense_Mutation_p.G221R|RXFP1_uc010iqn.3_Missense_Mutation_p.G297R	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	352						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CAGCCTAGAAGGGATTGAAAT	0.269000														46			18		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209644	140209644	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140209644G>A	uc003lho.2	+	0	1995	c.1968G>A	c.(1966-1968)gaG>gaA	p.E656E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.E656E	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	667	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)			ACCACGGTGAGCCGGCGCTGA	0.697000														84			18		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74347430	74347431	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:74347430_74347431GG>AA	uc011lsa.1	-	6	1939_1940	c.1399_1400CC>TT	c.(1399-1401)cct>TTt	p.P467F	TMEM2_uc010mos.2_Missense_Mutation_p.P404F|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	467						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CAGGAACTGAGGGGTTTCTGGT	0.411000														35			22		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43976494	43976494	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:43976494G>A	uc003bdy.2	-	24	3392	c.3078C>T	c.(3076-3078)ttC>ttT	p.F1026F	EFCAB6_uc003bdz.2_Silent_p.F874F|EFCAB6_uc010gzi.2_Silent_p.F874F|EFCAB6_uc010gzj.1_Silent_p.F252F	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1026					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTGCTCTCAGGAAGTCGAGGT	0.458000														267			107		0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141190	114141190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:114141190G>A	uc004epu.1	+	5	1317	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	HTR2C_uc010nqc.1_Missense_Mutation_p.E197K|HTR2C_uc004epv.1_Missense_Mutation_p.R165Q	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	197					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACTGAGGGACGAAGAAAAGGT	0.443000														90			23		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40599853	40599853	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40599853G>A	uc001zld.3	-	0	322	c.21C>T	c.(19-21)gtC>gtT	p.V7V	PLCB2_uc010bbo.3_Silent_p.V7V|PLCB2_uc010ucm.2_Silent_p.V7V|PLCB2_uc001zle.4_Silent_p.V7V	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	7					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGGGCAGCAGGACAGGGTTGA	0.607000														52			11		0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153761272	153761272	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:153761272G>A	uc004fly.1	-	8	1049	c.936C>T	c.(934-936)ccC>ccT	p.P312P	G6PD_uc004flx.1_Silent_p.P342P	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.	312					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTCTCCATCGGGGTTCCCCA	0.612000														60			8		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513509	99513509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:99513509G>A	uc003dti.1	+	2	895	c.767G>A	c.(766-768)gGg>gAg	p.G256E	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G255E|COL8A1_uc003dth.1_Missense_Mutation_p.G255E	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	255	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGTGTAAAGGGGCCTCCAGGG	0.647000														72			40		0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59545008	59545008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:59545008C>T	uc010ddo.3	+	4	702	c.539C>T	c.(538-540)cCc>cTc	p.P180L	TBX4_uc002izi.3_Missense_Mutation_p.P180L|TBX4_uc010woy.2_Missense_Mutation_p.P180L	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	180					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CACCTGGACCCCTTTGGCCAT	0.602000														73			27		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15829321	15829321	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:15829321C>T	uc002ddx.3	-	26	3536	c.3429G>A	c.(3427-3429)aaG>aaA	p.K1143K	MYH11_uc002ddv.3_Silent_p.K1143K|MYH11_uc002ddw.3_Silent_p.K1136K|MYH11_uc002ddy.3_Silent_p.K1136K|MYH11_uc010bvg.3_Silent_p.K968K	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1136					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTTTTCAGCCTTGTTCCTGG	0.597000			T	CBFB	AML									94			47		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29039024	29039024	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29039024G>A	uc002kws.3	+	4	510	c.401G>A	c.(400-402)gGa>gAa	p.G134E		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	134	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATGCCCAAGGACTAGATGTA	0.328000														39			21		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26085934	26085934	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:26085934C>T	uc002gzu.3	-	25	3591	c.3327G>A	c.(3325-3327)caG>caA	p.Q1109Q		NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	1109					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGTCCTCGACCTGCTCCTCAT	0.607000														12			9		0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	11978629	11978629	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:11978629G>A	uc001ila.3	-	17	3935	c.3461C>T	c.(3460-3462)cCc>cTc	p.P1154L	UPF2_uc001ilb.3_Missense_Mutation_p.P1154L|UPF2_uc001ilc.3_Missense_Mutation_p.P1154L	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	1154	Necessary for interaction with UPF1.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCCCAGTGGGGGCCCTTTCCT	0.463000														73			45		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111966270	111966270	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111966270G>A	uc001eba.3	-	4	434	c.378C>T	c.(376-378)tcC>tcT	p.S126S	OVGP1_uc001eaz.3_Silent_p.S88S|OVGP1_uc010owb.2_5'UTR|OVGP1_uc010owc.1_Silent_p.S116S	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	126					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TCCTCAGAAGGGATATAACTG	0.443000														70			45		0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38183162	38183162	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:38183162G>A	uc002hts.3	-	15	1931	c.1731C>T	c.(1729-1731)acC>acT	p.T577T	MED24_uc010wes.2_Silent_p.T412T|MED24_uc010wet.2_Intron|MED24_uc002htt.3_Silent_p.T552T|MED24_uc002htu.3_Silent_p.T539T|MED24_uc010cwn.3_Silent_p.T539T|MED24_uc010weu.2_Silent_p.T462T|MED24_uc010wev.1_Silent_p.T502T|MED24_uc010wew.1_Silent_p.T493T|MED24_uc010wex.1_Silent_p.T257T|SNORD124_uc010wey.2_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA.	552					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					ACTCCACTTTGGTGGAGTCGG	0.642000											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			10		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98807467	98807467	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:98807467G>A	uc001kmw.2	-	15	1866	c.1614C>T	c.(1612-1614)atC>atT	p.I538I	SLIT1_uc009xvh.1_Silent_p.I548I	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	538	LRRNT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding	p.R537H(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGGACTGGGGGATGCGCTCAG	0.627000														71			29		0	0	1	0	0
TMEM205	374882	broad.mit.edu	37	19	11456054	11456054	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11456054G>A	uc002mra.2	-	2	445	c.138C>T	c.(136-138)ttC>ttT	p.F46F	TMEM205_uc002mrb.2_Silent_p.F46F|TMEM205_uc002mqz.2_Silent_p.F46F|CCDC159_uc010xlr.2_5'Flank|CCDC159_uc010xls.2_5'Flank|CCDC159_uc010xlt.2_5'Flank|CCDC159_uc010xlu.2_5'Flank|CCDC159_uc010xlv.2_5'Flank	NM_033408	NP_940938	Q6UW68	TM205_HUMAN	Homo sapiens transmembrane protein 205 (TMEM205), transcript variant 2, mRNA.	46						integral to membrane				endometrium(1)|lung(1)	2						GCACTAGTCCGAAGGTATGTC	0.552000														58			10		0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112172609	112172609	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:112172609G>A	uc004bed.2	-	14	1512	c.1400C>T	c.(1399-1401)tCc>tTc	p.S467F	PTPN3_uc004beb.2_Missense_Mutation_p.S336F|PTPN3_uc004bec.2_Missense_Mutation_p.S291F|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.S422F|PTPN3_uc011lwh.1_Missense_Mutation_p.S313F|PTPN3_uc011lwd.1_5'UTR|PTPN3_uc011lwe.1_Missense_Mutation_p.S180F|PTPN3_uc011lwf.1_Missense_Mutation_p.S135F	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	467					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGTGAGCAGGAGCCTGGAGC	0.537000														82			43		0	0	1	0	0
KCNIP4	80333	broad.mit.edu	37	4	20884243	20884243	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:20884243G>A	uc021xmt.1	-	1	271	c.151C>T	c.(151-153)Cct>Tct	p.P51S	KCNIP4_uc003gqe.2_Intron|KCNIP4_uc003gqf.1_Intron|KCNIP4_uc003gqg.1_Intron|KCNIP4_uc003gqh.1_Intron|KCNIP4_uc003gqi.1_Intron|KCNIP4_uc021xmu.1_Intron|KCNIP4_uc021xms.1_Missense_Mutation_p.P14S	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.	51						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)				TGAATAGCAGGAGACGACGTT	0.443000														53			7		0	0	1	0	0
PDIA4	9601	broad.mit.edu	37	7	148703040	148703040	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:148703040G>A	uc003wff.2	-	7	1519	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	413					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			ACCACCAGGGGGCGCCTGGTG	0.627000											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			14		0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131415460	131415460	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:131415460C>T	uc011blq.2	-	5	597	c.487_splice	c.e5-1	p.V163_splice	CPNE4_uc003eok.3_Splice_Site_p.V145_splice|CPNE4_uc003eol.3_Splice_Site_p.V163_splice|CPNE4_uc003eom.3_Splice_Site_p.V145_splice	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	145	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TCAGCAATCACCTAAAGGAAA	0.403000														78			25		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36778713	36778713	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36778713G>A	uc003cgi.2	-	1	1929	c.1438C>T	c.(1438-1440)Ccg>Tcg	p.P480S		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	480	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.P480P(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AGGTTTTCCGGCTTGAGGTCC	0.453000														41			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9045590	9045590	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9045590G>A	uc002mkp.3	-	4	36245	c.36041C>T	c.(36040-36042)gCc>gTc	p.A12014V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12016	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						ACTCTCAGAGGCCAAGGTGGA	0.403000														10			5		0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84089651	84089651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84089651G>A	uc002fhi.3	-	21	3423	c.2921C>T	c.(2920-2922)cCc>cTc	p.P974L	MBTPS1_uc002fhh.3_Missense_Mutation_p.P478L	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	974					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGGGGACAAGGGCCTCACTTG	0.502000														57			23		0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26435788	26435788	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:26435788G>A	uc003xfb.2	+	0	449	c.18G>A	c.(16-18)aaG>aaA	p.K6K	DPYSL2_uc003xfa.3_Intron|DPYSL2_uc011lag.2_Silent_p.K6K|DPYSL2_uc011lah.2_5'Flank	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	6					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		ATCAGGGGAAGAAAAATATTC	0.433000														104			27		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956040	18956040	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:18956040G>A	uc001mpg.3	-	0	510	c.292C>T	c.(292-294)Ctc>Ttc	p.L98F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	98					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACAGGATAGAGGATTTTAGAG	0.532000														139			50		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186022189	186022189	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:186022189T>A	uc001grq.1	+	42	6912	c.6683T>A	c.(6682-6684)cTc>cAc	p.L2228H		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2228	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCCCAAATCTCATCTGGAAG	0.318000														75			48		0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67430797	67430797	+	Silent	SNP	G	A	A	rs111978289		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67430797G>A	uc001omr.3	-	9	1486	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	ALDH3B2_uc001oms.3_Silent_p.L349L	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	349					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CGGAGGGGGCGAGCAGGCAGG	0.617000														42			13		0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49585792	49585792	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:49585792C>T	uc003ozk.4	-	2	543	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	RHAG_uc010jzl.3_Missense_Mutation_p.E161K|RHAG_uc010jzm.3_Missense_Mutation_p.E161K	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	161					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TTAAATATTTCACTAACCAGG	0.383000														40			5		0	0	1	0	0
KIAA0141	9812	broad.mit.edu	37	5	141309182	141309182	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:141309182C>T	uc003lls.3	+	4	570	c.448C>T	c.(448-450)Cca>Tca	p.P150S	KIAA0141_uc003llt.3_Missense_Mutation_p.P150S	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	150					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCGATGGCCCAGCTCCCAG	0.602000														95			20		0	0	1	0	0
FAM75A2	642265	broad.mit.edu	37	9	39888172	39888172	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:39888172G>A	uc004abp.3	+	3	1188	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K		NM_001040065	NP_001035154	Q5RGS2	F75A2_HUMAN	Homo sapiens family with sequence similarity 75, member A2 (FAM75A2), mRNA.	387						integral to membrane				lung(4)|skin(1)|upper_aerodigestive_tract(1)	6				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAACATGGGAGAGAACTCGAA	0.478000														42			45		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046936	42046936	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:42046936A>T	uc001cgz.4	-	3	4746	c.3533T>A	c.(3532-3534)aTg>aAg	p.M1178K	HIVEP3_uc001cha.4_Missense_Mutation_p.M1178K|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1178					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AAGTGGGGGCATGGAGTATGG	0.577000														127			38		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436749	248436749	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248436749G>A	uc010pzi.2	-	0	368	c.368C>T	c.(367-369)gCt>gTt	p.A123V		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A122A(1)|p.A122E(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			GTGGCAGACAGCCGCATAGCG	0.607000														111			21		0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31577457	31577457	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31577457G>A	uc002wyi.3	-	8	675	c.582C>T	c.(580-582)atC>atT	p.I194I		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	194					spermatogenesis			p.Y193Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CTGGCTTTTCGATGTAATCTC	0.483000														55			15		0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89430486	89430486	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89430486G>A	uc002bnd.3	-	2	311	c.230C>T	c.(229-231)tCc>tTc	p.S77F	HAPLN3_uc002bnc.3_Missense_Mutation_p.S15F|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	15	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAGTCCGTAGGAGCCGGGCAG	0.642000														55			41		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546855	37546855	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:37546855G>A	uc002xje.3	+	10	1439	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q	PPP1R16B_uc010ggc.3_Missense_Mutation_p.R375Q	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	417					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	p.R417Q(2)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AAGATCCCACGAGGTGAACTG	0.572000														184			46		0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69327560	69327560	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69327560G>A	uc003hdz.4	+	1	97	c.33G>A	c.(31-33)agG>agA	p.R11R		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	11					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TGAGGGCTAGGAAAAGAGTTT	0.428000														347			143		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20702496	20702496	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20702496C>T	uc002dhm.1	-	0	83	c.15G>A	c.(13-15)atG>atA	p.M5I	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.M5I	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	5					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						TCCGGAACCTCATTAGCCACT	0.527000														121			46		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7173261	7173261	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7173261C>T	uc001qsj.3	+	9	1577	c.858C>T	c.(856-858)cgC>cgT	p.R286R	C1S_uc001qsk.3_Silent_p.R286R|C1S_uc001qsl.3_Silent_p.R286R|C1S_uc009zfr.3_Silent_p.R119R|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	286	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGAAACTTCGCTATCATGGAG	0.433000														78			6		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79351478	79351478	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:79351478G>A	uc003hlb.2	+	36	5316	c.4876G>A	c.(4876-4878)Gcg>Acg	p.A1626T	FRAS1_uc003hkw.3_Missense_Mutation_p.A1626T|FRAS1_uc010ijj.2_Missense_Mutation_p.A46T	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1625					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCTGAGACAGCGCCCAAAGA	0.483000														46			18		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66914658	66914658	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:66914658C>T	uc002jhq.3	-	14	2158	c.1818G>A	c.(1816-1818)atG>atA	p.M606I	ABCA8_uc002jhp.3_Intron|ABCA8_uc010wqq.2_Missense_Mutation_p.M606I|ABCA8_uc010wqr.2_Missense_Mutation_p.M545I|ABCA8_uc002jhr.3_Missense_Mutation_p.M606I	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	597	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GAATATTTTTCATTTCCAATT	0.338000														5			8		0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119031618	119031618	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:119031618G>A	uc001pvs.3	+	14	2079	c.1743G>A	c.(1741-1743)acG>acA	p.T581T	ABCG4_uc009zar.3_Silent_p.T581T	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	581	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.T581T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	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)		TGATCCTGACGATCTATGGCA	0.572000														29			14		0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44782277	44782277	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:44782277C>T	uc001rod.3	+	7	1433	c.1367C>T	c.(1366-1368)tCa>tTa	p.S456L	TMEM117_uc001roe.3_Missense_Mutation_p.S352L|TMEM117_uc009zkc.3_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	Homo sapiens transmembrane protein 117 (TMEM117), mRNA.	456						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		ACCCAGGCTTCAGTAGAAGAC	0.443000														95			60		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4718406	4718406	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:4718406G>A	uc003bqc.3	+	22	3193	c.2843G>A	c.(2842-2844)gGc>gAc	p.G948D	ITPR1_uc021wsi.1_Missense_Mutation_p.G954D|ITPR1_uc021wsj.1_Missense_Mutation_p.G939D|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	963					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCCCCTGAAGGCAATGTGAAG	0.552000														23			12		0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030699	3030699	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3030699G>A	uc002fvc.1	-	0	147	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TGTCAGTAATGATGACTAGAA	0.522000														41			25		0	0	1	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514657	58514657	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:58514657G>A	uc002ybb.3	-	0	696	c.330C>T	c.(328-330)ggC>ggT	p.G110G	FAM217B_uc002yba.3_Intron|FAM217B_uc002ybc.3_5'Flank|FAM217B_uc010zzx.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3D (PPP1R3D), mRNA.	110					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CCAGCTCCAAGCCCAGGGCGT	0.726000														25			10		0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157771	26157771	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:26157771G>A	uc022bub.1	+	0	669	c.669G>A	c.(667-669)atG>atA	p.M223I	MAGEB18_uc004dbq.2_Missense_Mutation_p.M223I	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	223	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GGGAAATTATGAATATGATGG	0.473000														6			6		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79030039	79030039	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:79030039C>T	uc003kgc.3	+	1	5523	c.5451C>T	c.(5449-5451)ctC>ctT	p.L1817L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1817						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTTCTGACCTCCTTGTAGAAC	0.378000														69			20		0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85622405	85622405	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:85622405G>A	uc004amo.1	-	6	1236	c.975C>T	c.(973-975)atC>atT	p.I325I		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	325					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGTATGCTCGGATTATTTCCA	0.398000														69			47		0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099913	133099913	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:133099913G>A	uc003epi.3	+	3	1628	c.1358G>A	c.(1357-1359)gGg>gAg	p.G453E	TMEM108_uc003eph.3_Missense_Mutation_p.G453E|TMEM108_uc003epj.1_Missense_Mutation_p.G453E|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	453						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GTGGCCGAGGGGGACAAACCG	0.612000														91			12		0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54971065	54971065	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54971065C>T	uc001sgd.2	+	14	1957	c.1564C>T	c.(1564-1566)Cca>Tca	p.P522S	PDE1B_uc010soz.2_Missense_Mutation_p.P385S|PDE1B_uc010spa.1_Missense_Mutation_p.P481S|PDE1B_uc001sge.3_Missense_Mutation_p.P502S|PDE1B_uc001sgf.3_Missense_Mutation_p.P385S|PDE1B_uc009znq.3_Missense_Mutation_p.P318S	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	522					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						AGAGGCCCCCCCATCCCCTGC	0.567000														128			63		0	0	1	0	0
AK8	158067	broad.mit.edu	37	9	135690087	135690087	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:135690087G>A	uc004cbu.1	-	9	1473	c.917C>T	c.(916-918)gCt>gTt	p.A306V	AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_Missense_Mutation_p.A102V	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	Homo sapiens adenylate kinase 8 (AK8), mRNA.	306	Adenylate kinase.					cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						ATCTGCCACAGCCTCTTTCAG	0.493000														53			16		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4730287	4730287	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:4730287C>T	uc003bqc.3	+	29	4116	c.3766C>T	c.(3766-3768)Ctg>Ttg	p.L1256L	ITPR1_uc021wsi.1_Silent_p.L1262L|ITPR1_uc021wsj.1_Silent_p.L1247L|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1271					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACACATAAACCTGTTTCTCAA	0.458000														59			5		0	0	1	0	0
CRHBP	1393	broad.mit.edu	37	5	76249004	76249004	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:76249004C>T	uc003ker.3	+	0	325	c.45C>T	c.(43-45)ttC>ttT	p.F15F	CRHBP_uc010izx.3_Silent_p.F15F	NM_001882	NP_001873	P24387	CRHBP_HUMAN	Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA.	15					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TTCTCATCTTCCTGACGGCTC	0.582000														44			16		0	0	1	0	0
SLC35G1	159371	broad.mit.edu	37	10	95660812	95660812	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:95660812C>T	uc001kjg.2	+	2	724	c.663C>T	c.(661-663)caC>caT	p.H221H	SLC35G1_uc001kji.3_Intron|SLC35G1_uc001kjf.2_Silent_p.H220H|SLC35G1_uc010qnw.2_Silent_p.H204H|SLC35G1_uc001kjj.3_Intron	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN	Homo sapiens solute carrier family 35, member G1 (SLC35G1), transcript variant 1, mRNA.	221						integral to membrane											ATTCAGGCCACCTTAAGGGAA	0.443000														56			36		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40743889	40743889	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:40743889C>T	uc002xkg.3	-	21	3233	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	PTPRT_uc010ggj.3_Missense_Mutation_p.E1036K|PTPRT_uc010ggi.3_Missense_Mutation_p.E220K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1017	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R1016R(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCTCTGTTTCAATCAGGGTG	0.532000														84			33		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690377	99690377	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:99690377G>A	uc001pga.3	+	3	662	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	CNTN5_uc009ywv.2_Missense_Mutation_p.R53Q|CNTN5_uc001pfz.3_Missense_Mutation_p.R53Q|CNTN5_uc021qpb.1_Missense_Mutation_p.R53Q|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	53					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACCAGACCACGATACAGCAGC	0.423000														115			21		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151945118	151945118	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:151945118G>A	uc003wla.3	-	13	2620	c.2401C>T	c.(2401-2403)Cct>Tct	p.P801S		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	801					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.P801H(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AGAGCTGAAGGGTAATTATGC	0.433000			N		medulloblastoma									808			38		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21990920	21990920	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21990920G>A	uc001wbe.3	-	1	3224	c.2942C>T	c.(2941-2943)tCt>tTt	p.S981F	SALL2_uc010tly.2_Missense_Mutation_p.S979F|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	981							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		AGGGACTAGAGAAAGAGCAGC	0.562000														66			25		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389943	77389943	+	Missense_Mutation	SNP	G	A	A	rs149929752		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:77389943G>A	uc002ffc.4	-	8	1773	c.1354C>T	c.(1354-1356)Ccc>Tcc	p.P452S	ADAMTS18_uc010chc.1_Missense_Mutation_p.P40S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.P148S|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.	452	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P452S(4)		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						TTTCTGCAGGGATTCCCTTCT	0.428000														65			41		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129095170	129095170	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:129095170C>T	uc011koy.2	+	7	832	c.792C>T	c.(790-792)ttC>ttT	p.F264F	FAM40B_uc003vow.3_Silent_p.F264F|FAM40B_uc011koz.2_5'Flank	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	264										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCCTCACTTCCCCATAAAGA	0.517000														167			13		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151304071	151304071	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151304071G>A	uc022cgz.1	-	0	22	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Nonsense_Mutation_p.Q8*|MAGEA10_uc004ffm.2_Nonsense_Mutation_p.Q8*|MAGEA10_uc004ffl.3_Nonsense_Mutation_p.Q8*	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	8								p.R7H(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCAGCGCTGACGCTTTGGA	0.602000														39			41		0	0	1	0	0
ASPHD2	57168	broad.mit.edu	37	22	26830241	26830241	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26830241G>A	uc003acg.2	+	1	1057	c.660G>A	c.(658-660)atG>atA	p.M220I		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	220					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GATGGAAAATGAACAGCACCC	0.532000														61			20		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5759096	5759096	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:5759096G>A	uc002mda.3	+	15	1430	c.1369_splice	c.e15-1	p.D457_splice	CATSPERD_uc010duj.1_Splice_Site_p.D115_splice	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	457						integral to membrane											TGACCCCACAGGATATTTTCC	0.557000														109			32		0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85570255	85570255	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:85570255C>T	uc001dkt.3	+	13	1719	c.1528C>T	c.(1528-1530)Caa>Taa	p.Q510*	WDR63_uc009wcl.3_Nonsense_Mutation_p.Q471*	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	510										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AATATGCTGTCAACTTGTCAC	0.328000														47			14		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976432	131976432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:131976432C>T	uc002tsn.2	+	0	509	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	153							ATP binding	p.P153S(2)									GGGTAAAGTCCCCAGAAAGGA	0.572000														194			36		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649564	20649564	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:20649564C>T	uc001ytg.3	-	17	2654	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.E649K|HERC2P3_uc010tyy.2_Missense_Mutation_p.E649K					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TAATTTCCTTCTTTCCCCATC	0.587000														141			56		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38891888	38891888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38891888C>T	uc021yzh.1	+	72	11021	c.10912C>T	c.(10912-10914)Cct>Tct	p.P3638S	DNAH8_uc003ooe.2_Missense_Mutation_p.P3421S|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACGGAAAATTCCTTTCACAGA	0.363000														91			7		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86010709	86010709	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:86010709C>T	uc003dql.3	+	6	861	c.861C>T	c.(859-861)ttC>ttT	p.F287F	CADM2_uc003dqj.3_Silent_p.F285F|CADM2_uc003dqk.3_Silent_p.F294F|CADM2_uc003dqm.2_Silent_p.F177F|CADM2_uc021xay.1_Silent_p.F177F|CADM2_uc021xaz.1_Silent_p.F177F|CADM2_uc021xba.1_Silent_p.F177F	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	285	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.L286I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACATTCTTTTCCTGAACAAAA	0.433000														111			42		0	0	1	0	0
PTGDS	5730	broad.mit.edu	37	9	139874654	139874654	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139874654G>A	uc004cke.3	+	4	1498	c.468G>A	c.(466-468)agG>agA	p.R156R	PTGDS_uc004ckd.3_Non-coding_Transcript|LCNL1_uc004ckh.1_5'Flank	NM_000954	NP_000945	P41222	PTGDS_HUMAN	Homo sapiens prostaglandin D2 synthase 21kDa (brain) (PTGDS), mRNA.	156					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGACCCCCAGGGCTGAGTTAA	0.632000														39			13		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3686422	3686423	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:3686422_3686423CC>TT	uc002wja.3	-	2	674_675	c.674_675GG>AA	c.(673-675)agg>aAA	p.R225K	SIGLEC1_uc002wiz.4_Missense_Mutation_p.R225K|SIGLEC1_uc002wjc.3_Missense_Mutation_p.R136K	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	225	Ig-like C2-type 1.				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						CGCTCTGAGCCCTGTGATTGGC	0.629000														72			29		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401879	89401879	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89401879C>T	uc010upo.1	+	11	6437	c.6063C>T	c.(6061-6063)gcC>gcT	p.A2021A	ACAN_uc010upp.1_Silent_p.A2021A|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2021					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)			CCTCTGTAGCCATGGGCACCA	0.502000														41			30		0	0	1	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105304	60105304	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60105304C>T	uc001npd.3	+	1	252	c.238C>T	c.(238-240)Cct>Tct	p.P80S		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	80						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TGCATTAAATCCTGCCTCATT	0.473000														115			34		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175049404	175049404	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175049404C>T	uc001gkl.1	+	3	1003	c.890C>T	c.(889-891)cCc>cTc	p.P297L	TNN_uc010pmx.1_Missense_Mutation_p.P297L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	297	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.Y296*(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCTACTACCCCCTGGGGAAG	0.577000														83			9		0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2852691	2852691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:2852691C>T	uc002lwo.3	+	3	766	c.628C>T	c.(628-630)Cct>Tct	p.P210S	ZNF555_uc002lwn.4_Missense_Mutation_p.P209S	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		GAAAACCTTTCCTCGTACTTC	0.448000														75			40		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882732	228882732	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228882732C>T	uc002vpq.2	-	6	2885	c.2838G>A	c.(2836-2838)gcG>gcA	p.A946A	SPHKAP_uc002vpp.2_Silent_p.A946A|SPHKAP_uc010zlx.1_Silent_p.A946A	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	946	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAAGGCAAATCGCTGCAATTT	0.473000														129			18		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180064816	180064816	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:180064816G>A	uc001gnt.3	+	34	9053	c.8670G>A	c.(8668-8670)aaG>aaA	p.K2890K	CEP350_uc009wxl.2_Silent_p.K2889K|CEP350_uc001gnv.3_Silent_p.K1025K|CEP350_uc001gnw.1_Silent_p.K647K|CEP350_uc001gnx.1_Silent_p.K647K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2890						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAAAAAATAAGGCAGAAGAAA	0.433000														54			21		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31167799	31167799	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:31167799C>T	uc002rns.3	-	8	1407	c.767G>A	c.(766-768)tGg>tAg	p.W256*	GALNT14_uc002rnq.3_Nonsense_Mutation_p.W231*|GALNT14_uc010ymr.2_Nonsense_Mutation_p.W216*|GALNT14_uc002rnr.3_Nonsense_Mutation_p.W251*|GALNT14_uc010ezo.2_Nonsense_Mutation_p.W218*|GALNT14_uc010ezp.1_Intron	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	251						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GTGGAGGCTCCAGTCAAACCC	0.577000														72			7		0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242129552	242129552	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242129552G>A	uc002wax.2	+	1	339	c.236G>A	c.(235-237)aGg>aAg	p.R79K	ANO7_uc002waw.3_Missense_Mutation_p.R79K	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	79						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCAGAGAAGAGGGGCTCTTAC	0.662000														5			4		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65489537	65489537	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65489537G>A	uc002aon.2	-	8	3268	c.3087C>T	c.(3085-3087)ccC>ccT	p.P1029P		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	1029					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AGCTGCCCTGGGGGATGACCT	0.582000														88			18		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939556	12939556	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12939556G>A	uc001aun.2	-	3	1317	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	416										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGGGGCAGGATACAGCTCC	0.512000														627			70		0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83999347	83999347	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:83999347C>T	uc002fha.3	+	6	1418	c.1418C>T	c.(1417-1419)tCc>tTc	p.S473F	NECAB2_uc002fhd.3_5'Flank|OSGIN1_uc002fhb.3_Missense_Mutation_p.S390F|OSGIN1_uc002fhc.3_Missense_Mutation_p.S390F	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	473					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						TTTGGGGTCTCCCTGGTGCTG	0.647000														61			7		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886491	228886491	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228886491C>T	uc002vpq.2	-	5	680	c.633G>A	c.(631-633)gaG>gaA	p.E211E	SPHKAP_uc002vpp.2_Silent_p.E211E|SPHKAP_uc010zlx.1_Silent_p.E211E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	211						cytoplasm	protein binding	p.I210I(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAAAGTCTTCCTCGATTGAAG	0.473000														82			24		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140407020	140407020	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:140407020C>T	uc003eto.2	+	2	1702	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	499						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAGGTACGCTCCTCAGGGGAC	0.572000														50			24		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155448661	155448661	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155448661G>A	uc009wqq.3	-	2	4480	c.4000C>T	c.(4000-4002)Ccc>Tcc	p.P1334S	ASH1L_uc001fkt.3_Missense_Mutation_p.P1334S|ASH1L_uc009wqr.1_Missense_Mutation_p.P1334S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1334					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)			GGGTCTAAGGGGAAAGAAGGA	0.408000														96			27		0	0	1	0	0
TNFRSF18	8784	broad.mit.edu	37	1	1139810	1139810	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:1139810C>T	uc001add.3	-	2	505	c.367G>A	c.(367-369)Ggc>Agc	p.G123S	TNFRSF18_uc001ada.3_Missense_Mutation_p.G51S|TNFRSF18_uc001adb.3_Missense_Mutation_p.G123S|TNFRSF18_uc001adc.3_Missense_Mutation_p.G123S	NM_148901	NP_683699	Q9Y5U5	TNR18_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 18 (TNFRSF18), transcript variant 2, mRNA.	123					anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTTCGTGGCCCCCGGAGAAG	0.652000														35			18		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600242	141600242	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:141600242G>A	uc010ioj.3	-	4	977	c.705C>T	c.(703-705)ttC>ttT	p.F235F		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	235						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGATGTTGAGGAATACAGAGA	0.478000														157			58		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24923060	24923060	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24923060G>A	uc001ywo.3	+	0	2520	c.2046G>A	c.(2044-2046)gtG>gtA	p.V682V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	682					cell differentiation|multicellular organismal development|spermatogenesis			p.V682L(1)		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)		CCACTTTAGTGAACAGTGCCT	0.522000														187			67		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858544	9858544	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:9858544C>G	uc010uym.2	-	13	3167	c.2857G>C	c.(2857-2859)Gag>Cag	p.E953Q	GRIN2A_uc002czo.4_Missense_Mutation_p.E953Q|GRIN2A_uc010uyn.2_Missense_Mutation_p.E796Q|GRIN2A_uc002czr.4_Missense_Mutation_p.E953Q	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	953					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.K952K(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAAATGCTCTCTTTCCCCTGA	0.443000														164			14		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486955	94486955	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:94486955G>A	uc004arj.2	-	8	2020	c.1821C>T	c.(1819-1821)tcC>tcT	p.S607S	ROR2_uc004ari.1_Silent_p.S467S	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	607	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGTGGTGGCTGGATAGGTACT	0.607000														51			23		0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37100898	37100898	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:37100898C>T	uc002oek.3	+	2	195	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	ZNF382_uc010efa.3_Intron|ZNF382_uc010efb.3_Nonsense_Mutation_p.Q27*|ZNF382_uc002oel.3_Nonsense_Mutation_p.Q28*	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	28	KRAB.|Mediates interaction with TRIM28 (By similarity).|Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGACCCTGCTCAGAAGGCGCT	0.478000														82			40		0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31761975	31761975	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31761975G>A	uc002wyo.1	+	3	464	c.393G>A	c.(391-393)gcG>gcA	p.A131A		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.	131						extracellular region	lipid binding										CTGTCACCGCGAATGTCACTG	0.532000														81			28		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2690852	2690852	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2690852C>T	uc009zdu.1	+	13	2305	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	CACNA1C_uc001qkc.2_Silent_p.I664I|CACNA1C_uc001qjz.2_Silent_p.I664I|CACNA1C_uc001qkd.2_Silent_p.I664I|CACNA1C_uc001qke.2_Silent_p.I664I|CACNA1C_uc001qkf.2_Silent_p.I664I|CACNA1C_uc009zdw.1_Silent_p.I664I|CACNA1C_uc001qkg.2_Silent_p.I664I|CACNA1C_uc001qkh.2_Silent_p.I664I|CACNA1C_uc001qkl.2_Silent_p.I664I|CACNA1C_uc001qkj.2_Silent_p.I664I|CACNA1C_uc001qkk.2_Silent_p.I664I|CACNA1C_uc001qkn.2_Silent_p.I664I|CACNA1C_uc001qkm.2_Silent_p.I664I|CACNA1C_uc001qko.2_Silent_p.I664I|CACNA1C_uc001qkp.2_Silent_p.I664I|CACNA1C_uc001qkq.2_Silent_p.I664I|CACNA1C_uc001qku.2_Silent_p.I664I|CACNA1C_uc001qkr.2_Silent_p.I664I|CACNA1C_uc001qks.2_Silent_p.I664I|CACNA1C_uc001qkt.2_Silent_p.I664I|CACNA1C_uc009zdv.1_Silent_p.I661I|CACNA1C_uc001qkb.2_Silent_p.I664I|CACNA1C_uc001qka.1_Silent_p.I199I|CACNA1C_uc001qki.1_Silent_p.I400I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	664					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	tcatcatcatcttctccctcc	0.537000														24			10		0	0	1	0	0
POU5F1	5460	broad.mit.edu	37	6	31138004	31138004	+	RNA	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31138004T>A	uc011dng.1	+	0		c.12T>A			POU5F1_uc003nsv.3_Missense_Mutation_p.N132Y			Q01860	PO5F1_HUMAN	Homo sapiens partial mRNA for POU class 5 homeobox 1 (POU5F1 gene), clone ARO0003057_AS.						BMP signaling pathway involved in heart induction|anatomical structure morphogenesis|blastocyst development|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of SMAD protein import into nucleus|positive regulation of catenin import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						TCCTCCGGGTTTTGCTCCAGC	0.652000			T	EWSR1	sarcoma									58			25		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50750524	50750524	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:50750524G>A	uc002egm.1	+	4	2594	c.2489G>A	c.(2488-2490)cGa>cAa	p.R830Q	NOD2_uc010cbl.1_Missense_Mutation_p.R608Q|NOD2_uc010cbm.1_Missense_Mutation_p.R608Q|NOD2_uc010cbn.1_Intron|NOD2_uc010cbo.1_Intron|NOD2_uc010cbp.1_Intron|NOD2_uc010cbq.1_5'UTR|NOD2_uc010cbr.1_Intron	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	830					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ATCTCAGACCGAGGCATCTGC	0.428000														28			17		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167284402	167284402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:167284402C>T	uc002udu.2	-	16	2879	c.2749G>A	c.(2749-2751)Gga>Aga	p.G917R	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	917					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CAGATTTTTCCTTTCTTGGAT	0.408000														47			11		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390859	197390859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197390859C>T	uc001gtz.3	+	5	2110	c.1901C>T	c.(1900-1902)cCa>cTa	p.P634L	CRB1_uc010poz.2_Missense_Mutation_p.P565L|CRB1_uc009wza.3_Missense_Mutation_p.P522L|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Missense_Mutation_p.P634L|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.P115L|CRB1_uc001gub.1_Missense_Mutation_p.P283L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	634	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TATAATATGCCATCCACACCT	0.408000														149			54		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113288760	113288760	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113288760G>A	uc001pnz.3	-	1	705	c.384C>T	c.(382-384)atC>atT	p.I128I	DRD2_uc010rwv.2_Silent_p.I127I|DRD2_uc001poa.4_Silent_p.I128I|DRD2_uc001pob.4_Silent_p.I128I|DRD2_uc009yyr.1_Silent_p.I128I	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	128					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.A127V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TGTCGATGCTGATGGCACACA	0.552000														41			9		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18332967	18332967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18332967G>A	uc010xqc.2	-	1	889	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	PDE4C_uc002nik.4_Missense_Mutation_p.R137W|PDE4C_uc002nil.4_Missense_Mutation_p.R137W|PDE4C_uc002nig.4_5'Flank|PDE4C_uc002nih.4_5'Flank|PDE4C_uc010ebk.3_Missense_Mutation_p.R31W|PDE4C_uc002nii.4_Missense_Mutation_p.R105W|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_5'Flank|PDE4C_uc002nim.1_Missense_Mutation_p.R137W	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	137					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GAGGAGTTCCGAGACATGGCC	0.607000														30			23		0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75937790	75937790	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:75937790C>T	uc003hih.2	+	1	452	c.199C>T	c.(199-201)Cca>Tca	p.P67S		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	67					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CTCGGTGCTCCCAGTTACAGC	0.517000														72			19		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157067	155157067	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155157067C>T	uc003inw.2	-	24	7372	c.7372G>A	c.(7372-7374)Gga>Aga	p.G2458R		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2458	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D2457N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGAATGACTCCATCAATACCA	0.378000														108			43		0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27296616	27296616	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:27296616C>T	uc003xfn.2	+	23	2520	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F	PTK2B_uc022ate.1_Missense_Mutation_p.S571F|PTK2B_uc003xfp.2_Missense_Mutation_p.S571F|PTK2B_uc003xfq.2_Missense_Mutation_p.S571F|PTK2B_uc003xfr.1_Missense_Mutation_p.S317F	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	571	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TTTGGTCTTTCCCGGTACATT	0.557000														78			29		0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103772	52103772	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:52103772C>T	uc001jje.3	-	6	1057	c.103G>A	c.(103-105)Gac>Aac	p.D35N	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.D35N|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.D35N|SGMS1_uc021pqo.1_Missense_Mutation_p.D35N|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	41	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TTGATCAAGTCCTGGCCTGTG	0.512000														57			29		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30680738	30680738	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:30680738G>A	uc003nrg.4	-	4	1421	c.981C>T	c.(979-981)atC>atT	p.I327I	MDC1_uc003nrf.4_5'UTR|MDC1_uc011dmp.1_Silent_p.I199I|MDC1_uc003nrh.1_Silent_p.I199I|MDC1_uc003nri.2_Silent_p.I327I	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	327	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGTCGCTGTCGATGAAGCCAA	0.532000								Other conserved DNA damage response genes						169			18		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932393	83932393	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83932393G>A	uc002bjt.1	-	3	1698	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	BNC1_uc010uos.1_Missense_Mutation_p.S525F	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	537					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GGACTTCCTGGATTTCTTCTT	0.463000														145			14		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74361203	74361203	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:74361203G>A	uc011lsa.1	-	2	926	c.386C>T	c.(385-387)tCt>tTt	p.S129F	TMEM2_uc010mos.2_Missense_Mutation_p.S129F|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	129	G8.					integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TTGCTTTGCAGAATCTTGTCC	0.433000														78			10		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145627780	145627780	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:145627780G>A	uc003ijs.2	+	4	1609	c.929G>A	c.(928-930)tGg>tAg	p.W310*		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	310						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CAAGAACGGTGGGCTATCGGG	0.433000														35			16		0	0	1	0	0
TSPAN13	27075	broad.mit.edu	37	7	16817503	16817503	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:16817503C>T	uc003stq.3	+	3	635	c.393C>T	c.(391-393)ttC>ttT	p.F131F		NM_014399	NP_055214	O95857	TSN13_HUMAN	Homo sapiens tetraspanin 13 (TSPAN13), mRNA.	131						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GCTGTGGGTTCCGAAGTGTTA	0.368000														71			13		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322632	55322632	+	Missense_Mutation	SNP	G	A	A	rs72140406		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55322632G>A	uc010rig.2	+	0	850	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S283Y(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ACACAGTTCTGAAGGGCGCTG	0.453000										HNSCC(20;0.049)				139			29		0	0	1	0	0
CLDN12	9069	broad.mit.edu	37	7	90042413	90042413	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:90042413C>T	uc003ukp.3	+	4	1059	c.423C>T	c.(421-423)ttC>ttT	p.F141F	CLDN12_uc003ukq.3_Silent_p.F141F|CLDN12_uc010leq.3_Silent_p.F141F|CLDN12_uc003uks.3_Silent_p.F141F|CLDN12_uc003ukr.3_Silent_p.F141F|CLDN12_uc022ahd.1_Silent_p.F141F	NM_012129	NP_036261	P56749	CLD12_HUMAN	Homo sapiens claudin 12 (CLDN12), transcript variant 3, mRNA.	141					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						TGCTATTTTTCCTGGCAGGTA	0.493000														114			50		0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55690819	55690819	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:55690819C>T	uc021tio.1	+	0	264	c.213C>T	c.(211-213)ggC>ggT	p.G71G	SLC6A2_uc002eif.3_Silent_p.G71G|SLC6A2_uc002eig.3_Silent_p.G71G	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	71					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CCGTAGTCGGCTTCGCAGTGG	0.672000														87			25		0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119027100	119027100	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:119027100G>A	uc001pvs.3	+	6	1084	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	ABCG4_uc009zar.3_Missense_Mutation_p.G250S	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	250	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	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)		GGCACAGGGGGGCCGTACCAT	0.587000														163			66		0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131283082	131283082	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:131283082C>T	uc011blq.2	-	10	1203	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	CPNE4_uc003eok.3_Missense_Mutation_p.E347K|CPNE4_uc003eol.3_Missense_Mutation_p.E365K|CPNE4_uc003eom.3_Missense_Mutation_p.E347K	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	347	VWFA.							p.G364G(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGGCAAATCTCCCCCACAGCT	0.502000														72			37		0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39884747	39884747	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:39884747C>T	uc003axv.4	+	1	1634	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	MGAT3_uc010gxy.3_Silent_p.F465F	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	465					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGGGCTGGTTCGACGGCACGC	0.637000														25			7		0	0	1	0	0
TRH	7200	broad.mit.edu	37	3	129694861	129694861	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:129694861G>A	uc003enc.3	+	1	763	c.202G>A	c.(202-204)Gag>Aag	p.E68K		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	68					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						GGACCAGGGTGAGCACTCCGG	0.667000														24			13		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	25473	25473	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000209.1:25473G>A	uc002qts.2	+	2	219	c.190G>A	c.(190-192)Ggg>Agg	p.G64R	KIR2DL2_uc002qtt.2_Missense_Mutation_p.G64R	NM_014219	NP_055034	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 (KIR2DL2), mRNA.	64	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										GCACAGAGAAGGGAAGTTTAA	0.527000														129			23		0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151108512	151108512	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151108512G>A	uc001ewv.3	-	12	1570	c.1234C>T	c.(1234-1236)Cag>Tag	p.Q412*	SEMA6C_uc001ewu.3_Nonsense_Mutation_p.Q412*|SEMA6C_uc001eww.3_Nonsense_Mutation_p.Q372*	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	412	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTAGAGGCTGATGGGTGACA	0.557000														54			31		0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18160191	18160191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:18160191C>T	uc003ncn.1	+	2	306	c.65C>T	c.(64-66)cCt>cTt	p.P22L		NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	22					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GATAGCCTTCCTTTGAGGAGC	0.403000														32			16		0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12692196	12692196	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12692196G>A	uc002mtz.2	-	4	822	c.693C>T	c.(691-693)ttC>ttT	p.F231F		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						AGAGAAATGCGAAGGCTTTGC	0.423000														83			42		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31133838	31133838	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:31133838C>T	uc002rns.3	-	15	2243	c.1603G>A	c.(1603-1605)Ggc>Agc	p.G535S	GALNT14_uc002rnq.3_Missense_Mutation_p.G510S|GALNT14_uc010ymr.2_Missense_Mutation_p.G495S|GALNT14_uc002rnr.3_Missense_Mutation_p.G530S	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	530	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V535I(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					ATTTCCTTGCCGTTCTCGGTG	0.537000														63			31		0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93125602	93125602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:93125602C>T	uc001yap.3	+	6	2275	c.2123C>T	c.(2122-2124)tCg>tTg	p.S708L	RIN3_uc010auk.3_Missense_Mutation_p.S370L|RIN3_uc001yaq.3_Missense_Mutation_p.S633L|RIN3_uc001yar.1_Missense_Mutation_p.S370L|RIN3_uc001yas.1_Missense_Mutation_p.S370L	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	708	Interaction with RAB5B.|VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.S708L(4)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AAGGATGGTTCGCTGCAGCAG	0.547000														200			56		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42683086	42683086	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42683086C>T	uc010ggo.3	+	4	839	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	TOX2_uc002xle.4_Nonsense_Mutation_p.Q225*|TOX2_uc010ggp.3_Nonsense_Mutation_p.Q225*|TOX2_uc002xlf.4_Nonsense_Mutation_p.Q276*|TOX2_uc010zwk.2_Nonsense_Mutation_p.Q145*	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CATCAAGGGTCAGAACCCCAG	0.562000														57			8		0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683038	71683038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71683038C>T	uc002fax.3	-	17	3733	c.3727G>A	c.(3727-3729)Ggc>Agc	p.G1243S	PHLPP2_uc002fav.3_Intron|PHLPP2_uc010cgf.3_Missense_Mutation_p.G1176S|PHLPP2_uc021tkv.1_5'Flank	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	1243						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACAATAGAGCCATTGGAGAGT	0.522000														97			6		0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67283854	67283854	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:67283854G>A	uc002jif.2	-	13	3159	c.1941C>T	c.(1939-1941)ccC>ccT	p.P647P	ABCA5_uc002jic.2_5'Flank|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Silent_p.P647P|ABCA5_uc002jih.2_Silent_p.P647P|ABCA5_uc010dfe.2_Silent_p.P647P	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	647	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GTCGAGAACAGGGGTCCATTC	0.413000														96			45		0	0	1	0	0
ANKRD6	22881	broad.mit.edu	37	6	90340157	90340157	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:90340157G>A	uc003pni.4	+	15	1959	c.1618G>A	c.(1618-1620)Gac>Aac	p.D540N	ANKRD6_uc003pne.4_Missense_Mutation_p.D535N|ANKRD6_uc003pnf.4_Missense_Mutation_p.D505N|ANKRD6_uc011dzy.2_Missense_Mutation_p.D540N|ANKRD6_uc010kcd.3_Missense_Mutation_p.D476N|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.4_Missense_Mutation_p.D136N	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN	Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.	540							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		ACCAGGTGTGGACCAATTAGT	0.507000														26			14		0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74354374	74354374	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:74354374C>T	uc003hhb.3	+	6	772	c.741C>T	c.(739-741)ttC>ttT	p.F247F		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	247	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCAAAAATTCCCCAAGATTG	0.363000														84			23		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184293694	184293694	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:184293694C>T	uc003foz.3	+	3	1370	c.933C>T	c.(931-933)acC>acT	p.T311T		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	311	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCCGTACCACCTCCCCAGCCG	0.617000														118			37		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156640282	156640282	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:156640282G>A	uc001fpq.3	-	3	3831	c.3698C>T	c.(3697-3699)cCt>cTt	p.P1233L	NES_uc021pbh.1_Missense_Mutation_p.P151L	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1233	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGAGGCCCAGGGGCATCTTC	0.637000														141			68		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171174688	171174688	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171174688C>T	uc001ghk.1	+	6	1215	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	FMO2_uc010pmd.1_Silent_p.L146L	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	366					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGTCAACCCTCGCGTGCATTG	0.448000														83			24		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46243472	46243472	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:46243472C>T	uc001ros.1	+	13	1825	c.1825C>T	c.(1825-1827)Cag>Tag	p.Q609*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q609*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q65*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q236*|ARID2_uc001rou.1_5'Flank	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	609					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACTTCCCATTCAGATGTACTA	0.438000			"""N, S, F"""		hepatocellular carcinoma									190			73		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227191	38227191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:38227191C>T	uc009vvi.3	-	2	822	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	EPHA10_uc001cbw.4_Missense_Mutation_p.G246R	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	246						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAGGCTCCCCTTCCGAGTGC	0.731000														31			4		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113562887	113562887	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:113562887C>T	uc022blv.1	+	14	2363	c.2229C>T	c.(2227-2229)gaC>gaT	p.D743D	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Silent_p.D654D|MUSK_uc022blu.1_Silent_p.D644D	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	743	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AAATTGCCGACTTTGGCCTCT	0.483000														161			67		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31374337	31374337	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31374337C>T	uc002ebt.3	+	12	1508	c.1441C>T	c.(1441-1443)Ccc>Tcc	p.P481S	ITGAX_uc002ebu.1_Missense_Mutation_p.P481S|ITGAX_uc010vfk.1_Missense_Mutation_p.P131S	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	481					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CATCGGGGCCCCCCATTACTA	0.677000														85			18		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8168563	8168563	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8168563C>T	uc002mjf.3	-	37	4839	c.4822G>A	c.(4822-4824)Gaa>Aaa	p.E1608K		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1608	EGF-like 25; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTGGAGCATTCGTCAATATCT	0.562000														35			13		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137038	126137038	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:126137038C>T	uc001uhe.1	+	7	1959	c.1951C>T	c.(1951-1953)Ctg>Ttg	p.L651L	TMEM132B_uc001uhf.1_Silent_p.L163L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	651						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)		GGTGATTGTCCTGGATGACCG	0.582000														40			8		0	0	1	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6522131	6522131	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:6522131G>A	uc001anh.3	-	8	963	c.875C>T	c.(874-876)cCt>cTt	p.P292L	TNFRSF25_uc001ana.3_Missense_Mutation_p.P100L|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_Missense_Mutation_p.P56L|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Missense_Mutation_p.P283L|TNFRSF25_uc001anf.3_Missense_Mutation_p.P246L|TNFRSF25_uc001ang.3_Missense_Mutation_p.P238L	NM_148965	NP_683866	Q93038	TNR25_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.	283					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGTAGCCAGGGGTCCAGCT	0.617000														78			22		0	0	1	0	0
BOP1	23246	broad.mit.edu	37	8	145512850	145512850	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145512850C>T	uc003zbr.1	-	1	303	c.235G>A	c.(235-237)Gag>Aag	p.E79K	HSF1_uc003zbt.4_5'Flank|HSF1_uc003zbu.4_5'Flank	NM_015201	NP_056016	Q14137	BOP1_HUMAN	Homo sapiens block of proliferation 1 (BOP1), mRNA.	79					cell proliferation|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	PeBoW complex|nucleoplasm	protein binding	p.D78N(1)		lung(1)|urinary_tract(2)	3	all_cancers(97;4.06e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;2.61e-39)|all cancers(56;1.37e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.087)			TCTCCCTCCTCGTCGCCTTCG	0.612000														98			25		0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62859106	62859106	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62859106G>A	uc002jey.2	-	9	3700	c.3084C>T	c.(3082-3084)ctC>ctT	p.L1028L	LRRC37A3_uc010wqg.1_Silent_p.L146L|LRRC37A3_uc002jex.1_Silent_p.L5L|LRRC37A3_uc010wqf.1_Silent_p.L66L|LRRC37A3_uc010dek.1_Silent_p.L34L	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1028						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TAAATTGGCAGAGGCAGCAGG	0.453000														217			96		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21641163	21641163	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:21641163C>T	uc003svc.3	+	17	3606	c.3575C>T	c.(3574-3576)cCt>cTt	p.P1192L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1192	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTTTGAACCTCTAAAAGAA	0.418000									Kartagener syndrome					35			5		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94700041	94700041	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94700041C>T	uc001ycs.1	+	5	722	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	190						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AGTCCAGTCTCGTTTAGTTAG	0.303000														111			39		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685415	248685415	+	Silent	SNP	C	T	T	rs146219175	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248685415C>T	uc001ien.1	+	0	468	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATCACCTCCCTAATTCAGT	0.577000														38			11		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48461415	48461415	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48461415G>A	uc003csw.2	-	10	2550	c.2280C>T	c.(2278-2280)tcC>tcT	p.S760S	PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Silent_p.S760S|PLXNB1_uc010hjx.1_Intron	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	760	Pro-rich.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCTGGGAGGGGAGGGCTCCT	0.657000														18			7		0	0	1	0	0
GCAT	23464	broad.mit.edu	37	22	38211196	38211196	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38211196C>T	uc003aua.2	+	4	781	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	GCAT_uc003atz.3_Silent_p.L214L	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	214					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CATCGCACCCCTGCAGGAGAT	0.602000														42			4		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419894	10419894	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10419894C>T	uc002gmo.3	-	2	160	c.66G>A	c.(64-66)agG>agA	p.R22R	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	22	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAATTCGCTCCCTTTCAGACT	0.507000														88			45		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12976259	12976259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12976259G>A	uc002mvm.3	+	14	1896	c.1768G>A	c.(1768-1770)Gac>Aac	p.D590N		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	590	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTTCTTCGGAGACACACCAGA	0.587000														164			21		0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392033	178392033	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178392033C>T	uc003mjo.2	+	4	929	c.628C>T	c.(628-630)Cat>Tat	p.H210Y	ZNF454_uc010jkz.2_Missense_Mutation_p.H210Y|ZNF454_uc021yjc.1_Missense_Mutation_p.H210Y	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TCAGAAAATTCATATTAAGGA	0.358000														51			14		0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10477453	10477453	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:10477453C>T	uc001arc.3	+	9	1086	c.996C>T	c.(994-996)atC>atT	p.I332I	PGD_uc010oak.2_Silent_p.I310I	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	332					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CTTCCAAGATCATCTCTTACG	0.507000														188			71		0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409628	69409628	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:69409628C>T	uc002sfg.3	+	15	1545	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	397					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATTTTAGGTTCGTTGGGGAGA	0.413000									Familial Infantile Hemangioma					37			14		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132560846	132560846	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:132560846C>T	uc003kyn.1	-	9	1526	c.1308G>A	c.(1306-1308)aaG>aaA	p.K436K	FSTL4_uc003kym.1_Missense_Mutation_p.R43K	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	436						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTTACGGGTCTTTCTAGCTG	0.527000														64			30		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34004133	34004133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:34004133G>A	uc003oir.4	-	7	2117	c.1754C>T	c.(1753-1755)tCg>tTg	p.S585L	GRM4_uc011dsn.2_Missense_Mutation_p.S538L|GRM4_uc010jvh.3_Missense_Mutation_p.S585L|GRM4_uc010jvi.3_Missense_Mutation_p.S277L|GRM4_uc003oio.3_Missense_Mutation_p.S277L|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.S445L|GRM4_uc003oiq.3_Missense_Mutation_p.S452L|GRM4_uc011dsm.2_Missense_Mutation_p.S416L	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	585					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGCCCAGGGCGAGCCCCACTC	0.637000														20			12		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15964870	15964870	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:15964870G>A	uc002gpo.3	-	36	5995	c.5726C>T	c.(5725-5727)cCt>cTt	p.P1909L	NCOR1_uc002gpn.3_Intron|NCOR1_uc002gpm.3_Missense_Mutation_p.P429L|NCOR1_uc010vwb.2_Missense_Mutation_p.P493L|NCOR1_uc010coy.3_Missense_Mutation_p.P817L|NCOR1_uc010vwc.2_Missense_Mutation_p.P719L	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1909	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTTTGGAGGAGGCCCTTTATC	0.463000														154			22		0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120389297	120389297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:120389297C>T	uc003edw.3	-	3	719	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	87					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GGATCAACTTCATCCCAGTTG	0.423000														111			33		0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142586780	142586780	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:142586780C>T	uc011dbj.2	+	20	2041	c.2006C>T	c.(2005-2007)cCa>cTa	p.P669L	ARHGAP26_uc003lmt.3_Missense_Mutation_p.P669L|ARHGAP26_uc003lmw.3_Intron	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	669	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATCCAAGCCCAACTTCACCC	0.577000														116			31		0	0	1	0	0
LPAR5	57121	broad.mit.edu	37	12	6730144	6730144	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6730144C>T	uc009zer.2	-	1	552	c.271G>A	c.(271-273)Gac>Aac	p.D91N	LPAR5_uc001qps.2_Missense_Mutation_p.D91N|LPAR5_uc010sff.1_Missense_Mutation_p.D91N|LPAR5_uc021qub.1_Missense_Mutation_p.D91N	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN	Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.	91						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CACAGGAGGTCGGGGAAGGGC	0.612000														18			5		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56345295	56345295	+	Silent	SNP	C	T	T	rs149585110	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56345295C>T	uc002ivt.3	+	12	2395	c.2079C>T	c.(2077-2079)ttC>ttT	p.F693F	LPO_uc010wns.2_Silent_p.F634F|LPO_uc010dcp.3_Silent_p.F610F|LPO_uc010dcq.3_Silent_p.F364F|LPO_uc010dcr.3_Silent_p.F256F	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	693					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CCTATGACTTCGTGGATTGCT	0.567000														85			44		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196709789	196709789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196709789C>T	uc002utj.4	-	46	8983	c.8882G>A	c.(8881-8883)cGa>cAa	p.R2961Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2961	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTCCAAGTTCGAATTGTCAC	0.363000														43			8		0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356487	55356487	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55356487C>T	uc010spd.1	-	8	1328	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	TESPA1_uc001sgl.3_Missense_Mutation_p.D261N|TESPA1_uc001sgm.3_Missense_Mutation_p.D146N|TESPA1_uc010spb.1_Missense_Mutation_p.D146N|TESPA1_uc010spc.1_Missense_Mutation_p.D261N|TESPA1_uc001sgn.3_Missense_Mutation_p.D399N	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	399																	CACTGTGGATCTTCTATGGGC	0.517000														103			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179535872	179535872	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179535872G>A	uc021vsy.1	-	150	31575	c.31350C>T	c.(31348-31350)atC>atT	p.I10450I	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I7111I|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11377	Glu-rich.|Pro-rich.						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)			TTTTTGGAGGGATGATTTTCT	0.353000														37			14		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140773318	140773318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140773318C>T	uc003lkd.2	+	0	1836	c.938C>T	c.(937-939)tCa>tTa	p.S313L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.S313L|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	314	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)			GAAGAATGTTCATTTTATGAA	0.358000														153			38		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2182194	2182194	+	Silent	SNP	C	T	T	rs1803766		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:2182194C>T	uc003zhc.3	+	30	4512	c.4413C>T	c.(4411-4413)gtC>gtT	p.V1471V	SMARCA2_uc003zhd.3_Silent_p.V1453V|SMARCA2_uc010mha.3_Silent_p.V1386V|SMARCA2_uc011llw.2_Silent_p.V157V|SMARCA2_uc011llx.2_Silent_p.V117V|SMARCA2_uc003zhe.3_Silent_p.V159V|SMARCA2_uc010mhb.3_Silent_p.V141V	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1471	Bromo.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding	p.L1470V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGAAGGATGTCATGCTTCTCT	0.443000														133			16		0	0	1	0	0
MSANTD2	79684	broad.mit.edu	37	11	124637768	124637768	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124637768G>A	uc001qba.1	-	3	1007	c.984C>T	c.(982-984)atC>atT	p.I328I	MSANTD2_uc001qaz.1_Silent_p.I276I|MSANTD2_uc010sap.1_Silent_p.I48I|MSANTD2_uc001qay.1_Silent_p.I98I	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN	Homo sapiens chromosome 11 open reading frame 61 (C11orf61), mRNA.	328																	AATGGTAACGGATATCCTCTT	0.468000														118			40		0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868352	97868352	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:97868352G>A	uc003dsg.1	+	0	123	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41W(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCATCATGGGGAATCTTGGTC	0.403000														281			101		0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90509483	90509483	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:90509483C>T	uc001xxy.3	+	16	2122	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Missense_Mutation_p.S608F|TDP1_uc010atn.3_3'UTR|TDP1_uc001xya.3_Missense_Mutation_p.S369F|TDP1_uc001xyb.3_Non-coding_Transcript	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	608					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGGGTGCCCTCCTGAGAATCT	0.423000								Repair of DNA-protein crosslinks						49			17		0	0	1	0	0
IL15RA	3601	broad.mit.edu	37	10	6002493	6002493	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:6002493C>T	uc021pmo.1	-	4	692	c.678G>A	c.(676-678)gcG>gcA	p.A226A	IL15RA_uc010qau.2_Silent_p.A107A|IL15RA_uc021pmp.1_Silent_p.A77A|IL15RA_uc001iiv.3_Silent_p.A140A|IL15RA_uc001iiw.3_Silent_p.A104A|IL15RA_uc001iiy.3_5'UTR	NM_001243539	NP_001230468	Q13261	I15RA_HUMAN	Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA.	140					cell proliferation	Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CTGTTGTGGCCGCTGTGTTGT	0.567000														38			19		0	0	1	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106710741	106710741	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:106710741G>A	uc003vdx.3	+	1	498	c.323G>A	c.(322-324)cGa>cAa	p.R108Q		NM_002736	NP_002727	P31323	KAP3_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA.	108	Dimerization and phosphorylation.				G2/M transition of mitotic cell cycle|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|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	p.R108*(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						GTAATAAACCGATTCACAAGG	0.313000														74			26		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48286164	48286164	+	Missense_Mutation	SNP	C	T	T	rs143647867	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:48286164C>T	uc010rht.2	+	0	752	c.752C>T	c.(751-753)cCt>cTt	p.P251L		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TTCTTCATACCTTGCTCCTTG	0.498000														139			20		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182007	57182007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:57182007G>A	uc003hbk.2	+	7	2730	c.2339G>A	c.(2338-2340)cGg>cAg	p.R780Q	KIAA1211_uc010iha.2_Missense_Mutation_p.R773Q|KIAA1211_uc011bzz.1_Missense_Mutation_p.R690Q|KIAA1211_uc003hbm.1_Missense_Mutation_p.R666Q	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	780										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAGATGCACCGGGAGCCCGCA	0.617000														73			23		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702720	30702720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:30702720C>T	uc003xil.3	-	0	3814	c.3814G>A	c.(3814-3816)Gat>Aat	p.D1272N		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1272										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACATTTGAATCTAAGACTGAT	0.343000														64			17		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087397	39087397	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:39087397G>A	uc011aej.1	-	2	116	c.63C>T	c.(61-63)gtC>gtT	p.V21V	KCNJ6_uc002ywo.2_Silent_p.V21V	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	21					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CTGGGCTTTCGACGTCCTGAT	0.517000														29			22		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400298	85400298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:85400298G>A	uc002ble.3	+	5	3102	c.2935G>A	c.(2935-2937)Gag>Aag	p.E979K		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	979					heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.E978K(1)		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)			CAGATCTGAGGAGGCAGTAGT	0.542000														171			56		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070360	9070360	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9070360C>T	uc002mkp.3	-	2	17290	c.17086G>A	c.(17086-17088)Gag>Aag	p.E5696K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5698	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						GTCAGTCTCTCCTGTGTGGGG	0.502000														55			20		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152787119	152787119	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:152787119G>A	uc021zhb.1	-	14	1950	c.1727C>T	c.(1726-1728)tCa>tTa	p.S576L	SYNE1_uc003qot.4_Missense_Mutation_p.S583L|SYNE1_uc003qou.4_Missense_Mutation_p.S576L|SYNE1_uc010kjb.1_Missense_Mutation_p.S559L|SYNE1_uc003qpa.1_Missense_Mutation_p.S576L|SYNE1_uc003qox.1_Missense_Mutation_p.S92L|SYNE1_uc003qoz.2_Missense_Mutation_p.S8L|SYNE1_uc003qoy.2_Missense_Mutation_p.S143L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	576					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGTTTTACCTGAACCATCTGC	0.373000										HNSCC(10;0.0054)				27			22		0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009333	120009333	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:120009333C>T	uc011muc.2	-	0	447	c.192G>A	c.(190-192)gaG>gaA	p.E64E		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	64										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCTCACCCTCCTCCTCCCCGA	0.731000														41			30		0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18775224	18775224	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18775224C>T	uc002njz.1	+	1	264	c.237C>T	c.(235-237)gtC>gtT	p.V79V		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	79	BTB.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CACACAAGGTCGTCCTGGCTG	0.642000														122			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	89157152	89157152	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:89157152C>T	uc021vkt.1	-	299		c.10577G>A			abParts_uc002sti.1_Non-coding_Transcript|abParts_uc002stj.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TTCAACTGCTCATCAGATGGC	0.488000														12			6		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21689995	21689995	+	Missense_Mutation	SNP	C	T	T	rs142656537	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21689995C>T	uc001rfb.3	-	15	2260	c.2005G>A	c.(2005-2007)Gat>Aat	p.D669N		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	669					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTTCCTCATCGTATCTCTCA	0.483000														86			22		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530386	125530386	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:125530386G>A	uc010flu.3	+	16	2908	c.2544G>A	c.(2542-2544)gaG>gaA	p.E848E	CNTNAP5_uc002tno.3_Silent_p.E847E	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	847	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTCCTTCAGAGATCACCTTTG	0.488000														68			17		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563735	176563735	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176563735G>A	uc001gkz.3	+	2	2159	c.995G>A	c.(994-996)gGa>gAa	p.G332E	PAPPA2_uc001gky.1_Missense_Mutation_p.G332E|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	332					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AAGGACAAGGGAAAGCGGGAT	0.562000														62			15		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38959746	38959746	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38959746C>T	uc002oit.3	+	25	3652	c.3522C>T	c.(3520-3522)tcC>tcT	p.S1174S	RYR1_uc002oiu.3_Silent_p.S1174S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1174	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACTCAGGCTCCGAAACAGCCT	0.562000														65			24		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873421	91873421	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:91873421C>T	uc004efk.2	+	6	4371	c.3526C>T	c.(3526-3528)Cca>Tca	p.P1176S	PCDH11X_uc004efl.2_Missense_Mutation_p.P1166S|PCDH11X_uc010nmv.2_3'UTR|PCDH11X_uc004efm.2_Missense_Mutation_p.P1168S|PCDH11X_uc004efn.2_Missense_Mutation_p.P1158S|PCDH11X_uc004efo.2_Missense_Mutation_p.P1139S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	1176					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCACAGCCCACCACTGTCACA	0.567000														25			40		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423265	56423265	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56423265G>A	uc010ygg.2	-	4	1943	c.1918C>T	c.(1918-1920)Cac>Tac	p.H640Y		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	640							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGTAGGCAGTGAAAAAGTCGT	0.423000														79			40		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116241795	116241795	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116241795C>T	uc004bhq.3	+	4	649	c.440C>T	c.(439-441)gCc>gTc	p.A147V	RGS3_uc004bhr.3_Missense_Mutation_p.A35V|RGS3_uc004bhs.3_Missense_Mutation_p.P2S	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	147	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCATTGATGCCCAGGACCGG	0.577000														129			43		0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37709508	37709508	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37709508G>A	uc003arf.3	+	12	1257	c.1141G>A	c.(1141-1143)Gac>Aac	p.D381N	CYTH4_uc011amw.2_Missense_Mutation_p.D324N	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	381					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CCCCTTCTACGACCTGGTCTC	0.587000														91			13		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152861154	152861154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:152861154C>T	uc021zhb.1	-	1	293	c.70G>A	c.(70-72)Gag>Aag	p.E24K	SYNE1_uc003qot.4_Missense_Mutation_p.E24K|SYNE1_uc003qou.4_Missense_Mutation_p.E24K|SYNE1_uc010kjb.1_Missense_Mutation_p.E24K|SYNE1_uc003qpa.1_Missense_Mutation_p.E24K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	24	Actin-binding.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCTCTTGCTCATCTAGAAGG	0.343000										HNSCC(10;0.0054)				48			25		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993665	140993665	+	Missense_Mutation	SNP	C	T	T	rs74966399		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140993665C>T	uc004fbt.3	+	3	799	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	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.	159							protein binding	p.P159S(2)		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)					TGAGGGTTTTCCCCAGTCTGT	0.488000										HNSCC(15;0.026)				65			87		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451962	138451962	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:138451962C>T	uc003ihe.4	-	0	1668	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K	PCDH18_uc003ihf.4_Silent_p.K420K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.K207K|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	427	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACTCAGATCTCTTTTCTCTAT	0.353000														111			44		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94049590	94049590	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94049590G>A	uc003ung.1	+	34	2596	c.2125G>A	c.(2125-2127)Gga>Aga	p.G709R	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	709			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)	tggtcctCGGGGAAGCCCTGT	0.453000										HNSCC(75;0.22)				99			12		0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75289544	75289544	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:75289544G>A	uc001juo.3	-	12	1971	c.1954C>T	c.(1954-1956)Ccc>Tcc	p.P652S	USP54_uc001juk.3_5'UTR|USP54_uc001jul.3_5'UTR|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Missense_Mutation_p.P652S|U6_uc021ptn.1_5'Flank|USP54_uc010qkl.1_Missense_Mutation_p.P652S	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	652					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ATTAGTCGGGGGTGCTGCTCT	0.557000											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		199			22		0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44432665	44432665	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:44432665C>T	uc001ckx.3	+	17	3382	c.2587C>T	c.(2587-2589)Cgt>Tgt	p.R863C	IPO13_uc001cky.3_Missense_Mutation_p.R81C	NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	863					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGAAGACGGTCGTATGCTGCT	0.612000														59			24		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69416525	69416525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69416525G>A	uc021xov.1	-	4	1226	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	395					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GCAAACAAGGGAATGCCCACC	0.458000														119			75		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105963467	105963467	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105963467G>A	uc001kxw.3	-	7	1174	c.1058C>T	c.(1057-1059)tCt>tTt	p.S353F	WDR96_uc001kxx.4_Missense_Mutation_p.S354F|WDR96_uc001kxy.1_Missense_Mutation_p.S354F|WDR96_uc001kxz.3_Missense_Mutation_p.S354F	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	353										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATAATTGGGAGAAAATGTCAT	0.313000														57			29		0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65396365	65396366	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65396365_65396366CC>TT	uc001oey.2	+	23	3887_3888	c.3887_3888CC>TT	c.(3886-3888)gcc>gTT	p.A1296V	PCNXL3_uc001oez.2_Missense_Mutation_p.A183V	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1296						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTAGGCAGTGCCGTCTTCATCA	0.634000														23			11		0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62126344	62126344	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62126344C>T	uc002yfe.1	-	3	601	c.435G>A	c.(433-435)gtG>gtA	p.V145V		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	145						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGAGCTGCTTCACACCCAGCG	0.622000														93			31		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62536530	62536530	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:62536530G>A	uc001xfu.1	+	1	930	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	SYT16_uc010tsd.1_Missense_Mutation_p.E245K	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	245										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATCTGCCTGCGAAGGTATCCT	0.483000														48			12		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40714389	40714389	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:40714389G>A	uc002xkg.3	-	27	4135	c.3951C>T	c.(3949-3951)ttC>ttT	p.F1317F	PTPRT_uc010ggj.3_Silent_p.F1336F|PTPRT_uc010ggi.3_Silent_p.F520F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1317	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TACAGATGCGGAATATTCTGT	0.587000														91			6		0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131186724	131186724	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:131186724G>A	uc003qch.2	-	16	2963	c.2781C>T	c.(2779-2781)acC>acT	p.T927T	EPB41L2_uc003qce.1_Silent_p.T305T|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc010kfl.2_Silent_p.T774T|EPB41L2_uc003qcg.1_Silent_p.T669T|EPB41L2_uc003qci.3_Silent_p.T774T|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_Silent_p.T88T	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	927	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CAGATGTGATGGTTTGTGCGG	0.458000														47			19		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159778947	159778947	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:159778947G>A	uc001fud.4	+	3	558	c.516G>A	c.(514-516)gaG>gaA	p.E172E	FCRL6_uc010pix.1_3'UTR|FCRL6_uc001fuc.2_Silent_p.E179E|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.3_Silent_p.E172E	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	172	Ig-like C2-type 2.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GAGCCAAGGAGGGAGACTCTG	0.627000														57			15		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11650885	11650885	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11650885G>A	uc002gne.3	+	31	6480	c.6412G>A	c.(6412-6414)Gag>Aag	p.E2138K	DNAH9_uc010coo.3_Missense_Mutation_p.E1432K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2138	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGTCCAGCTGGAGGAGCTCCT	0.582000														12			15		0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98941610	98941610	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:98941610C>T	uc001tfj.3	+	8	1634	c.1339C>T	c.(1339-1341)Cat>Tat	p.H447Y	TMPO_uc001tfl.3_Non-coding_Transcript|TMPO_uc001tfk.3_Missense_Mutation_p.H338Y	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN	Homo sapiens thymopoietin (TMPO), transcript variant 2, mRNA.	447						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TAATTTTCTTCATGTTGACCC	0.343000														115			51		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171154906	171154906	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:171154906G>A	uc001ghk.1	+	1	171	c.54G>A	c.(52-54)ctG>ctA	p.L18L	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	18					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAATTTCTCTGAAGTGCTGTG	0.463000														160			57		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702830	60702830	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60702830C>T	uc001nqi.3	+	9	2139	c.1946C>T	c.(1945-1947)tCg>tTg	p.S649L	TMEM132A_uc001nqj.3_Missense_Mutation_p.S648L	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	648	Binds to HSPA5/GRP78 (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ATGGGCATCTCGCTGACCTTG	0.662000														26			7		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12725999	12726000	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12725999_12726000CC>TT	uc001auf.3	+	3	477_478	c.477_478CC>TT	c.(475-480)tcccct>tcTTct	p.P160S		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	160						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		ACCACCATTCCCCTGCCCTTTT	0.525000														103			10		0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762792	53762792	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53762792C>T	uc002qbi.2	+	0	1248	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	388					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ATAGACGATTCTTTCATGATT	0.438000														100			38		0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110765834	110765834	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110765834C>T	uc009wfr.3	+	1	1713	c.927C>T	c.(925-927)ttC>ttT	p.F309F	KCNC4_uc001dzf.3_Silent_p.F309F|KCNC4_uc001dzh.3_Silent_p.F309F|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Silent_p.F309F	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	309					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGCTGGACTTCGTCAAGAACC	0.607000														76			23		0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65108826	65108826	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65108826G>A	uc002ant.2	-	11	1879	c.1813C>T	c.(1813-1815)Ccc>Tcc	p.P605S	PIF1_uc002anr.2_Missense_Mutation_p.P153S|PIF1_uc002ans.2_Missense_Mutation_p.P296S|PIF1_uc010uiq.1_Missense_Mutation_p.P605S	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	605	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						AGCACACGGGGGTCACAGCGA	0.657000														160			45		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033447	82033447	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:82033447G>A	uc002fgu.3	-	2	579	c.451C>T	c.(451-453)Cac>Tac	p.H151Y		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	151					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CGAGAGTAGTGATCAGGGTGG	0.507000														64			40		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121414281	121414281	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121414281C>T	uc001pxx.3	+	12	1839	c.1710C>T	c.(1708-1710)acC>acT	p.T570T		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	570					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AAGGGGAGACCTGGAAAACAT	0.458000														111			26		0	0	1	0	0
PUS7	54517	broad.mit.edu	37	7	105105785	105105785	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:105105785G>A	uc010lji.3	-	12	1628	c.1620C>T	c.(1618-1620)ttC>ttT	p.F540F	PUS7_uc003vcx.3_Silent_p.F534F|PUS7_uc003vcy.3_Silent_p.F534F|PUS7_uc003vcz.1_Silent_p.F534F	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	534	TRUD.				pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity	p.F534F(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						AGATAACATCGAAACCAGGCA	0.343000														46			17		0	0	1	0	0
ARL6	84100	broad.mit.edu	37	3	97503890	97503890	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:97503890C>T	uc003drv.3	+	5	659	c.346C>T	c.(346-348)Cca>Tca	p.P116S	ARL6_uc003drw.3_Non-coding_Transcript|ARL6_uc003dru.3_Missense_Mutation_p.P116S|ARL6_uc010hoy.3_Missense_Mutation_p.P116S	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN	Homo sapiens ADP-ribosylation factor-like 6 (ARL6), transcript variant 2, mRNA.	116					Wnt receptor signaling pathway|cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TCTGAATCATCCAGGTATGTG	0.343000														74			15		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1213673	1213673	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1213673C>T	uc003jbw.4	+	4	815	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	253					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.F253L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCATCGTCTTCCTCTTCACGC	0.652000														21			15		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92251698	92251698	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:92251698G>A	uc001xzu.4	-	10	1361	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	TC2N_uc001xzt.4_Silent_p.F390F|TC2N_uc010auc.3_Silent_p.F326F|TC2N_uc001xzv.4_Silent_p.F390F	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	390	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CCACCTTCACGAAAAAACCTA	0.323000														214			82		0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122247235	122247235	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122247235G>A	uc010hri.3	-	10	2686	c.2541C>T	c.(2539-2541)ttC>ttT	p.F847F	PARP9_uc003eff.4_Silent_p.F812F|PARP9_uc011bjs.2_Silent_p.F812F|PARP9_uc003efg.3_Silent_p.F392F|PARP9_uc003efi.3_Silent_p.F812F|PARP9_uc003efh.3_Silent_p.F847F	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	847	PARP catalytic.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TGCCACTTGCGAATCCCCTCC	0.448000														106			46		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167675260	167675260	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:167675260C>T	uc010jjd.3	+	26	7289	c.7289C>T	c.(7288-7290)tCc>tTc	p.S2430F	ODZ2_uc003lzr.4_Missense_Mutation_p.S2200F|ODZ2_uc003lzt.4_Missense_Mutation_p.S1803F|ODZ2_uc010jje.3_Missense_Mutation_p.S1694F	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)		CGATGGACCTCCCCAGACTAT	0.522000														40			14		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21036173	21036173	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:21036173G>A	uc001bdr.4	-	3	747	c.629C>T	c.(628-630)tCg>tTg	p.S210L	KIF17_uc001bds.4_Missense_Mutation_p.S210L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	210	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GATGGAGTGCGAGCGTGAGGA	0.592000														95			11		0	0	1	0	0
CT45A5	441521	broad.mit.edu	37	X	134947909	134947909	+	Missense_Mutation	SNP	C	T	T	rs143395460	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:134947909C>T	uc004eze.3	-	2	661	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	CT45A5_uc022ces.1_Missense_Mutation_p.R139Q|CT45A5_uc011mvu.2_Missense_Mutation_p.R139Q	NM_001007551	NP_001165759	Q6NSH3	CT455_HUMAN	Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA.	139								p.R139Q(4)		endometrium(1)|large_intestine(2)|lung(6)	9						CTACTTACTTCGTCCAAGGCA	0.388000														26			39		0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26509185	26509185	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:26509185C>T	uc003nif.4	+	6	1421	c.1364C>T	c.(1363-1365)cCc>cTc	p.P455L		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	455	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity	p.P455P(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TTCTCTGGCCCCCTCCGGCCC	0.478000														71			18		0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100159990	100159990	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:100159990G>A	uc001kpc.3	-	4	426	c.340C>T	c.(340-342)Cga>Tga	p.R114*	PYROXD2_uc001kpb.3_Non-coding_Transcript|PYROXD2_uc010qpe.2_Nonsense_Mutation_p.R114*	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	114							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TAGGGGTTTCGAAGATGAAGC	0.522000														44			20		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242082349	242082349	+	Silent	SNP	G	A	A	rs145347607		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242082349G>A	uc002wao.2	-	1	232	c.99C>T	c.(97-99)acC>acT	p.T33T	PASK_uc010zol.2_5'UTR|PASK_uc010zom.2_Silent_p.T33T|PASK_uc010fzl.2_Silent_p.T33T|PASK_uc010zon.2_Intron|PASK_uc021vzf.1_Silent_p.T33T|PASK_uc002waq.3_Silent_p.T33T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	33					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCTCAGCAGTGGTCTGTGCAG	0.597000														52			7		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289353	107289353	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:107289353G>A	uc011lvn.2	-	0	138	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGCTTGCTATGATCAGAACAC	0.433000														95			41		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277022	152277022	+	Missense_Mutation	SNP	C	T	T	rs138147945	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152277022C>T	uc001ezu.1	-	2	10376	c.10340G>A	c.(10339-10341)gGa>gAa	p.G3447E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3447	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAGTGGGATCCCTGCCTTCC	0.607000									Ichthyosis					398			177		0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9237432	9237432	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9237432G>A	uc010xkl.2	-	0	195	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S64S(1)		NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CCAAGGACAGGATAGAGAGGA	0.547000														95			48		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166870271	166870271	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166870271G>A	uc002udo.4	-	19	3915	c.3688C>T	c.(3688-3690)Ctt>Ttt	p.L1230F	SCN1A_uc010fpk.3_Missense_Mutation_p.L1202F|SCN1A_uc021vsb.1_Missense_Mutation_p.L1219F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1230						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCACTACTAAGGAGAATCATG	0.378000														66			25		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21967619	21967619	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21967619G>A	uc001rfh.3	-	32	4081	c.4061C>T	c.(4060-4062)tCg>tTg	p.S1354L	ABCC9_uc001rfi.1_Missense_Mutation_p.S1354L	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1354	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGAGATAACGATGATTTCCC	0.403000														92			10		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38997934	38997934	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38997934G>A	uc021yzh.1	+	92	13999	c.13890G>A	c.(13888-13890)cgG>cgA	p.R4630R	DNAH8_uc003ooe.2_Silent_p.R4413R	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGGACAGACGGAATGGGAAGC	0.488000											OREG0017409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		87			18		0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707809	50707809	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:50707809C>T	uc002egk.2	-	3	632	c.459G>A	c.(457-459)atG>atA	p.M153I	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	153	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	p.E152K(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GCTCACAGATCATCTCCTCAG	0.632000														31			10		0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40695469	40695469	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:40695469C>T	uc002lav.3	-	0	189	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	RIT2_uc010dnf.3_Missense_Mutation_p.E6K	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	6					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCTGGCTTCATTTTCTACC	0.517000														88			23		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165956930	165956930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:165956930G>A	uc002ucx.3	-	21	4340	c.3848C>T	c.(3847-3849)tCt>tTt	p.S1283F	SCN3A_uc002ucy.3_Missense_Mutation_p.S1234F|SCN3A_uc002ucz.3_Missense_Mutation_p.S1234F|SCN3A_uc002uda.1_Missense_Mutation_p.S1103F|SCN3A_uc002udb.1_Missense_Mutation_p.S1103F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1283						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1283F(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GCTAACCAAAGAAACCTACAA	0.373000														34			7		0	0	1	0	0
CHMP7	91782	broad.mit.edu	37	8	23116264	23116264	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:23116264C>T	uc003xdc.2	+	7	1628	c.980C>T	c.(979-981)gCt>gTt	p.A327V	CHMP7_uc011kzs.1_Non-coding_Transcript|CHMP7_uc003xdd.2_Missense_Mutation_p.A217V|CHMP7_uc003xde.2_Missense_Mutation_p.A185V	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA.	327					cellular membrane organization|late endosome to vacuole transport	ESCRT III complex|cytosol	protein transporter activity	p.Q326Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GCCTACCAGGCTGGGGTAGGA	0.463000														29			7		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52322009	52322009	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:52322009C>T	uc003xqu.4	-	16	2276	c.2175G>A	c.(2173-2175)gcG>gcA	p.A725A	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	725					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGCGGTACTTCGCATGGAAAC	0.657000														40			7		0	0	1	0	0
PSAT1	29968	broad.mit.edu	37	9	80943007	80943007	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:80943007C>T	uc004ala.3	+	7	978	c.910C>T	c.(910-912)Cca>Tca	p.P304S	PSAT1_uc004alb.3_Intron	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	304					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	GATGAATATTCCATTCCGCAT	0.368000														39			12		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12941788	12941788	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12941788C>T	uc001aun.2	-	2	833	c.762G>A	c.(760-762)caG>caA	p.Q254Q		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	254										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTTCTTCTGCTCTGGGG	0.498000														240			100		0	0	1	0	0
C14orf119	55017	broad.mit.edu	37	14	23566952	23566953	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23566952_23566953CC>TT	uc021rqv.1	+	0	85_86	c.85_86CC>TT	c.(85-87)cct>TTt	p.P29F	ACIN1_uc001wit.4_5'Flank|ACIN1_uc010akg.3_5'Flank|ACIN1_uc010tnj.2_5'Flank|C14orf119_uc001wiu.3_Missense_Mutation_p.P29F	NM_017924	NP_060394	Q9NWQ9	CN119_HUMAN	Homo sapiens chromosome 14 open reading frame 119 (C14orf119), mRNA.	29										central_nervous_system(1)|endometrium(1)|lung(1)	3	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00649)		CCCTTCCCCTCCTCTGATGTCT	0.485000														201			82		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114296106	114296106	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:114296106G>A	uc004bff.2	+	3	813	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	ZNF483_uc011lwq.2_Missense_Mutation_p.E197K|ZNF483_uc004bfg.2_Missense_Mutation_p.E197K	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	197	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K196Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GCTATATAAGGAAGTGCTACT	0.398000														77			55		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91744422	91744422	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:91744422G>A	uc010aty.3	-	28	5056	c.4902C>T	c.(4900-4902)ccC>ccT	p.P1634P	CCDC88C_uc001xzj.3_Silent_p.P158P|CCDC88C_uc001xzi.3_Silent_p.P84P	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1634					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCCGAGGCAAGGGGTACTCGT	0.701000														12			7		0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124266334	124266334	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124266334G>A	uc001lgj.2	+	3	1033	c.905G>A	c.(904-906)cGa>cAa	p.R302Q		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	302	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ACCACCCAGCGAGGCGGCAAA	0.622000														72			27		0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122626202	122626202	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:122626202C>T	uc021pzt.1	+	7	1362	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A	WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	372						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATGCAGCCGCCCTCGTAGTGA	0.463000														104			44		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966963	39966963	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:39966963G>A	uc003ayc.3	+	0	206	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	CACNA1I_uc003ayd.3_Missense_Mutation_p.R69Q	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	69					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.R69W(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACCAGCCCCCGGAACTGGTGC	0.637000														127			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262588	140262588	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140262588C>T	uc003lif.2	+	0	735	c.735C>T	c.(733-735)tcC>tcT	p.S245S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.S245S|PCDHAC2_uc003lid.3_Silent_p.S245S	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	260	Cadherin 2.				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)			TTTACCAATCCGTTTATAAAG	0.453000														96			34		0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3487274	3487274	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3487274G>A	uc002cvd.3	-	3	609	c.425C>T	c.(424-426)tCt>tTt	p.S142F		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	Homo sapiens zinc finger protein 597 (ZNF597), mRNA.	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						AAGAATTTCAGAAAGTGTGTT	0.408000														127			32		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870120	4870120	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4870120G>A	uc010qyo.2	-	0	319	c.319C>T	c.(319-321)Cta>Tta	p.L107L		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCATCTGTAGAAGGCAGGCT	0.542000														95			21		0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34945064	34945064	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:34945064C>T	uc003jjb.3	+	7	1303	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L	DNAJC21_uc003jjc.3_Missense_Mutation_p.P359L|DNAJC21_uc010iuu.1_Missense_Mutation_p.P243L|DNAJC21_uc003jjd.3_5'Flank	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.	359	Glu-rich.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTTTCAAGACCTCAAATTGAT	0.358000														115			41		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186445073	186445073	+	Silent	SNP	G	A	A	rs142183659		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:186445073G>A	uc011bsa.2	+	4	846	c.612G>A	c.(610-612)acG>acA	p.T204T	KNG1_uc003fqr.3_Silent_p.T204T|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	204	Cystatin 2.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TTGTGCAAACGAATTGTTCCA	0.348000														97			16		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674183	4674183	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:4674183C>T	uc021qcq.1	+	0	427	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	OR51E1_uc001lzi.4_Missense_Mutation_p.R143C	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	142					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)		TACGTTGCCTCGTGTCACCAA	0.567000														72			33		0	0	1	0	0
LDLRAD2	401944	broad.mit.edu	37	1	22140990	22140991	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:22140990_22140991CC>TT	uc001bfg.1	+	1	372_373	c.185_186CC>TT	c.(184-186)acc>aTT	p.T62I		NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 2 (LDLRAD2), mRNA.	62						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GCTCCGGACACCGACTGCGGGC	0.728000														47			8		0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24773215	24773215	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24773215C>T	uc003xed.4	+	1	1211	c.1178C>T	c.(1177-1179)gCt>gTt	p.A393V	NEFM_uc011lac.1_Missense_Mutation_p.A393V|NEFM_uc010lue.3_Missense_Mutation_p.A17V	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	393	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GTCAAGATGGCTCTGGATATA	0.547000														37			22		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107131135	107131135	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:107131135C>T	uc021ser.1	-	78		c.3743G>A								Parts of antibodies, mostly variable regions.																		ATCGGCCCTTCACGGAGTCTG	0.522000														165			15		0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65124444	65124444	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:65124444G>A	uc001dbo.1	+	12	1791	c.1686G>A	c.(1684-1686)gtG>gtA	p.V562V	CACHD1_uc001dbp.1_Silent_p.V317V|CACHD1_uc001dbq.1_Silent_p.V317V	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	613					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AAATACCTGTGAAACAACTGA	0.448000														11			8		0	0	1	0	0
SPINK7	84651	broad.mit.edu	37	5	147693683	147693683	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:147693683G>A	uc003lpd.3	+	2	165	c.108G>A	c.(106-108)aaG>aaA	p.K36K	AK054753_uc003lpb.1_Intron	NM_032566	NP_115955	P58062	ISK7_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 7 (putative) (SPINK7), mRNA.	36	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATTTACAAGAAGTATCCAG	0.473000														167			67		0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76372213	76372213	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:76372213C>T	uc001oxq.4	-	2	667	c.424G>A	c.(424-426)Gag>Aag	p.E142K	LRRC32_uc001oxr.4_Missense_Mutation_p.E142K|LRRC32_uc010rsf.2_Missense_Mutation_p.E142K	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	142						integral to plasma membrane		p.E142*(2)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGCAGCCGCTCCAGCAGGCCG	0.687000														41			15		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027865	55027865	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:55027865G>A	uc002xxp.2	+	5	1858	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	CASS4_uc002xxq.4_Missense_Mutation_p.E545K|CASS4_uc010zze.1_Missense_Mutation_p.E491K|CASS4_uc002xxr.2_Missense_Mutation_p.E545K|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	545					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TTGGCCTCTGGAAGTTCTTGT	0.498000														54			23		0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52497354	52497354	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52497354G>A	uc002pyf.2	-	6	1325	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Silent_p.F325F|ZNF615_uc002pyh.2_Silent_p.F336F|ZNF615_uc010epi.2_Silent_p.F332F|ZNF615_uc002pyg.2_Silent_p.F217F|ZNF615_uc010ydg.2_Silent_p.F330F	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ACTTTGTAGAGAAGGCCTTCC	0.423000														163			18		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520434	52520434	+	Missense_Mutation	SNP	G	A	A	rs142884639	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:52520434G>A	uc001wzo.3	-	4	1526	c.1292C>T	c.(1291-1293)tCg>tTg	p.S431L	NID2_uc010tqs.2_Missense_Mutation_p.S431L|NID2_uc010tqt.1_Missense_Mutation_p.S431L|NID2_uc001wzp.3_Missense_Mutation_p.S431L	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	431						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ATCCATTTCCGAAGGCACTGG	0.537000														86			41		0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116046221	116046221	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:116046221C>T	uc001lbl.1	+	10	1842	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	VWA2_uc001lbk.1_Silent_p.F507F|VWA2_uc009xyf.1_Silent_p.F203F	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	507	VWFA 2.					extracellular region				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)		AGGATCTGTTCAACCAAATCC	0.627000														49			13		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766148	19766148	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19766148G>A	uc002nnh.4	-	10	1539	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	ATP13A1_uc002nnf.4_5'UTR|ATP13A1_uc002nng.3_Missense_Mutation_p.S386F	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	504					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGCGATGAGGGAGGTGTTGAC	0.637000														46			17		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55953808	55953808	+	Missense_Mutation	SNP	G	A	A	rs11540507		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:55953808G>A	uc003has.3	-	26	3930	c.3628C>T	c.(3628-3630)Ccc>Tcc	p.P1210S	KDR_uc003hat.1_Missense_Mutation_p.P1210S	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1210					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.P1210L(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)	TGGAATTTGGGGTCACATACT	0.507000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				58			17		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58551861	58551861	+	Silent	SNP	C	T	T	rs147151087		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58551861C>T	uc002qrc.1	+	3	661	c.414C>T	c.(412-414)ttC>ttT	p.F138F		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	138					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACTGGAGTTTCGGTGAGGAGG	0.612000														177			10		0	0	1	0	0
REG3G	130120	broad.mit.edu	37	2	79253856	79253856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:79253856G>A	uc002snw.3	+	2	179	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	REG3G_uc002snx.3_Missense_Mutation_p.E32K|REG3G_uc010ffu.3_Missense_Mutation_p.E32K	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA.	32					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AACCCAGAAGGAACTGCCCTC	0.532000														49			20		0	0	1	0	0
C1orf150	148823	broad.mit.edu	37	1	247737544	247737544	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247737544G>A	uc001idf.3	+	4	415	c.268G>A	c.(268-270)Gag>Aag	p.E90K	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	90										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGATGGCTATGAGAACATTGA	0.458000														70			25		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108383994	108383994	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:108383994G>A	uc001pkk.3	-	5	2351	c.2240C>T	c.(2239-2241)tCc>tTc	p.S747F	EXPH5_uc010rvz.2_Missense_Mutation_p.S591F|EXPH5_uc010rvy.2_Missense_Mutation_p.S559F	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	747					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGAGTCCTGGGATAAGGGATT	0.423000														87			42		0	0	1	0	0
PTHLH	5744	broad.mit.edu	37	12	28116336	28116336	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:28116336G>A	uc001rik.3	-	2	772	c.469C>T	c.(469-471)Cta>Tta	p.L157L	PTHLH_uc001ril.3_Silent_p.L157L|PTHLH_uc001rim.3_Silent_p.L157L|PTHLH_uc001rin.3_Silent_p.L157L	NM_198966	NP_945317	P12272	PTHR_HUMAN	Homo sapiens parathyroid hormone-like hormone (PTHLH), transcript variant 4, mRNA.	157					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					TCCCCTTCTAGCCCACTCCCA	0.572000														55			24		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38952011	38952011	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38952011G>A	uc021yzh.1	+	86	13090	c.12981G>A	c.(12979-12981)atG>atA	p.M4327I	DNAH8_uc003ooe.2_Missense_Mutation_p.M4110I|DNAH8_uc003oog.1_Missense_Mutation_p.M559I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCGGTACATGATCGGAGAAG	0.343000														85			16		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101051255	101051255	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:101051255C>T	uc003yjb.1	-	13	2265	c.2070G>A	c.(2068-2070)tgG>tgA	p.W690*	RGS22_uc003yja.1_Nonsense_Mutation_p.W509*|RGS22_uc003yjc.1_Nonsense_Mutation_p.W678*|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Nonsense_Mutation_p.W594*|RGS22_uc022azf.1_Nonsense_Mutation_p.W79*	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	690					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CACTGTTCTTCCACAACTACA	0.353000														37			13		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169783678	169783678	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169783678C>G	uc002ueo.1	-	25	3732	c.3606G>C	c.(3604-3606)atG>atC	p.M1202I	ABCB11_uc010zda.1_Missense_Mutation_p.M620I|ABCB11_uc010zdb.1_Missense_Mutation_p.M678I	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1202	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTGGGAGTGACATGACAAAAT	0.453000														181			18		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102337651	102337651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:102337651C>T	uc003pqp.4	+	10	1954	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	GRIK2_uc003pqn.3_Missense_Mutation_p.S554F|GRIK2_uc010kcw.3_Missense_Mutation_p.S554F|GRIK2_uc003pqo.4_Missense_Mutation_p.S554F|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	554					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)	GGCGTCTTCTCCTTCCTGAAT	0.458000														121			58		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076695	9076695	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9076695G>A	uc002mkp.3	-	2	10955	c.10751C>T	c.(10750-10752)tCt>tTt	p.S3584F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3585	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						AGCTGTGGAAGACCAGGTGGA	0.493000														69			27		0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799190	45799190	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:45799190C>T	uc001jcc.1	-	3	990	c.681G>A	c.(679-681)gtG>gtA	p.V227V	OR13A1_uc001jcd.1_Silent_p.V223V|OR13A1_uc021ppq.1_Silent_p.V227V	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TCAGGAAGTTCACTATGCCGT	0.552000														78			20		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122001066	122001066	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122001066A>T	uc003eew.4	+	5	2183	c.1745A>T	c.(1744-1746)gAg>gTg	p.E582V	CASR_uc003eev.4_Missense_Mutation_p.E572V	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	572			C -> F (in FHH).|C -> Y (in NSHPT).		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)	CCTGATGGGGAGTATAGTGAT	0.597000														66			29		0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75013558	75013558	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:75013558G>A	uc002ayp.4	-	4	1270	c.1148C>T	c.(1147-1149)cCc>cTc	p.P383L	CYP1A1_uc010bjy.3_Missense_Mutation_p.P383L|CYP1A1_uc010bju.3_Missense_Mutation_p.P119L|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Missense_Mutation_p.P119L|CYP1A1_uc002ayq.4_Missense_Mutation_p.P383L|CYP1A1_uc010bjz.1_Missense_Mutation_p.P119L	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	383					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GATGGTGAAGGGGACGAAGGA	0.577000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					147			44		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38139114	38139114	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38139114G>A	uc003chp.1	+	16	2572	c.2551G>A	c.(2551-2553)Gag>Aag	p.E851K	DLEC1_uc003cho.1_Missense_Mutation_p.E851K|DLEC1_uc010hgv.1_Missense_Mutation_p.E851K|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	851					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTTACACATTGAGGCTGTCTT	0.602000														31			23		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033749	82033749	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:82033749C>T	uc002fgu.3	-	2	277	c.149G>A	c.(148-150)gGa>gAa	p.G50E		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	50					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						AAACTTGATTCCTTCTGGAAT	0.463000														138			39		0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53932330	53932330	+	Missense_Mutation	SNP	G	A	A	rs141793483	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:53932330G>A	uc001cvq.1	+	3	1079	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	342					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GGAGCAGTCCGACTAGGCCCC	0.567000														199			96		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497178	1497178	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:1497178C>T	uc003wpl.3	+	1	416	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	DLGAP2_uc003wpm.3_Missense_Mutation_p.R107C	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	186					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CAAGATCAACCGCATCCCGGC	0.682000														13			11		0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51503798	51503798	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51503798C>T	uc002puq.1	-	2	433	c.247G>A	c.(247-249)Gag>Aag	p.E83K	KLK9_uc002puw.1_Non-coding_Transcript|KLK8_uc002pur.1_Missense_Mutation_p.E38K|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.E38K|KLK8_uc002puv.1_Intron	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	38	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GGTTGGCACTCATGACCCCCC	0.637000														83			30		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90025464	90025464	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:90025464C>T	uc003kju.3	+	49	10528	c.10432C>T	c.(10432-10434)Cag>Tag	p.Q3478*	GPR98_uc003kjt.3_Nonsense_Mutation_p.Q1184*|GPR98_uc003kjv.3_Nonsense_Mutation_p.Q1078*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3478					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGCAGGAGATCAGAATTCAAT	0.303000														21			5		0	0	1	0	0
SVOP	55530	broad.mit.edu	37	12	109309618	109309618	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:109309618G>A	uc010sxh.1	-	14	1391	c.1219C>T	c.(1219-1221)Ctg>Ttg	p.L407L		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	Homo sapiens SV2 related protein homolog (rat) (SVOP), mRNA.	461						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						CAGGTGCCCAGGCCGAGGGCC	0.622000														20			3		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19067962	19067962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19067962C>T	uc002dfp.2	+	13	2100	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F	TMC7_uc002dfq.3_Missense_Mutation_p.S657F|TMC7_uc010vap.2_Missense_Mutation_p.S547F	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	657						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TCGCTGCAGTCCTTCATCCAT	0.557000														89			40		0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	723306	723306	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:723306C>T	uc001lqt.3	+	14	1654	c.1407C>T	c.(1405-1407)acC>acT	p.T469T	EPS8L2_uc001lqu.3_Silent_p.T469T|EPS8L2_uc010qwk.2_Silent_p.T485T|EPS8L2_uc001lqv.3_Silent_p.T424T|EPS8L2_uc001lqw.3_Silent_p.T81T|EPS8L2_uc001lqx.3_Silent_p.T81T|EPS8L2_uc001lqy.3_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	469						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGAGCCCACCCCCCCGGGGG	0.582000											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		71			23		0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90651043	90651043	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:90651043G>A	uc001xye.1	+	1	1365	c.923G>A	c.(922-924)cGa>cAa	p.R308Q		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	308						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GGACTCTTGCGATCACGCAGG	0.572000														77			38		0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332827	100332827	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:100332827G>A	uc021sxl.1	-	1		c.326C>T			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		TGACTACAACGAGGGACACAG	0.612000														112			14		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25255689	25255689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25255689G>A	uc003abg.2	+	8	965	c.808G>A	c.(808-810)Gac>Aac	p.D270N	SGSM1_uc010guu.1_Missense_Mutation_p.D270N|SGSM1_uc003abh.2_Missense_Mutation_p.D270N|SGSM1_uc003abj.2_Missense_Mutation_p.D270N|SGSM1_uc003abi.1_Missense_Mutation_p.D245N|SGSM1_uc003abf.2_Missense_Mutation_p.D270N	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	270						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCAGAGGGACGACATGGAGGC	0.562000														57			20		0	0	1	0	0
SPRY1	10252	broad.mit.edu	37	4	124323283	124323283	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:124323283C>T	uc003ifa.3	+	1	724	c.537C>T	c.(535-537)ttC>ttT	p.F179F	SPRY1_uc003ifb.3_Silent_p.F179F|SPRY1_uc021xro.1_Silent_p.F179F	NM_199327	NP_955359	O43609	SPY1_HUMAN	Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA.	179					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AGCACAAGTTCATTTGTGAAC	0.527000														71			34		0	0	1	0	0
RTP1	132112	broad.mit.edu	37	3	186917640	186917640	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:186917640G>A	uc003frg.3	+	1	604	c.574G>A	c.(574-576)Gag>Aag	p.E192K		NM_153708	NP_714919	P59025	RTP1_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.	192					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AGAGTTCTGCGAGGCCTGCCA	0.701000														32			12		0	0	1	0	0
SH2D7	646892	broad.mit.edu	37	15	78393813	78393813	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:78393813C>T	uc010blb.1	+	4	1218	c.1218C>T	c.(1216-1218)atC>atT	p.I406I		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	Homo sapiens SH2 domain containing 7 (SH2D7), mRNA.	406										endometrium(2)|kidney(2)|lung(3)	7						ACAAGAGGATCTCAGGGACCC	0.592000														24			6		0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56276946	56276946	+	Missense_Mutation	SNP	G	A	A	rs149447728		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56276946G>A	uc002ivq.3	+	8	1447	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	443					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GGCAAGGCCCGGGCCAGGAGA	0.597000														48			37		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15448386	15448386	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:15448386G>A	uc002rcc.1	-	39	4777	c.4751C>T	c.(4750-4752)gCc>gTc	p.A1584V	NBAS_uc010exl.1_Missense_Mutation_p.A656V|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1584										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGCCAATCGGGCATAGATCTG	0.473000														42			16		0	0	1	0	0
KIAA1704	55425	broad.mit.edu	37	13	45580398	45580398	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:45580398C>T	uc001uzq.3	+	2	386	c.283C>T	c.(283-285)Ctt>Ttt	p.L95F	KIAA1704_uc010tfo.1_Non-coding_Transcript|KIAA1704_uc001uzr.1_Missense_Mutation_p.L95F|KIAA1704_uc001uzs.3_5'UTR|KIAA1704_uc001uzt.3_5'UTR	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	Homo sapiens KIAA1704 (KIAA1704), mRNA.	95										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		TGGACCAGCCCTTCCTCCTGG	0.333000														255			67		0	0	1	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110463606	110463607	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:110463606_110463607GG>AA	uc001tpx.3	+	7	1120_1121	c.861_862GG>AA	c.(859-864)gaggag>gaAAag	p.E288K	ANKRD13A_uc009zvl.1_Non-coding_Transcript|ANKRD13A_uc010sxw.2_Missense_Mutation_p.E288K|ANKRD13A_uc001tpy.3_5'UTR|ANKRD13A_uc001tpz.3_5'Flank	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	Homo sapiens ankyrin repeat domain 13A (ANKRD13A), mRNA.	288										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						ATCTGACCGAGGAGGAAAAAAA	0.411000														95			43		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77406945	77406945	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:77406945G>A	uc021sqy.1	-	7	5370	c.4794C>T	c.(4792-4794)ctC>ctT	p.L1598L		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1598	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TCTCATAGATGAGGATGCCTG	0.542000														87			32		0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79733273	79733273	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:79733273C>T	uc003kgr.4	+	3	1071	c.769C>T	c.(769-771)Cat>Tat	p.H257Y	ZFYVE16_uc010jak.2_Missense_Mutation_p.H257Y|ZFYVE16_uc003kgp.3_Missense_Mutation_p.H257Y|ZFYVE16_uc003kgq.4_Missense_Mutation_p.H257Y|ZFYVE16_uc003kgs.4_Missense_Mutation_p.H257Y	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	257					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CAAAATGTTTCATGCCAAAGA	0.353000														94			26		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156929952	156929952	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156929952C>T	uc003lwz.3	-	11	1246	c.1167G>A	c.(1165-1167)agG>agA	p.R389R	ADAM19_uc003lww.2_Silent_p.R122R|ADAM19_uc003lwy.3_5'UTR|ADAM19_uc011ddr.1_Silent_p.R320R	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	389	Peptidase M12B.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAGCTCCCTCCTGTTGCATC	0.552000														81			38		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861992	52861992	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:52861992G>A	uc003gzi.3	-	3	1203	c.1196C>T	c.(1195-1197)cCt>cTt	p.P399L		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	399						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTCAACATAAGGCCTTGTGAA	0.547000														68			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107083553	107083553	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:107083553G>A	uc021ser.1	-	130		c.5617C>T								Parts of antibodies, mostly variable regions.																		CCTGGGACAGGACCCCTGTGA	0.602000														46			15		0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112185104	112185104	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:112185104C>T	uc009zvx.3	+	16	2693	c.2493C>T	c.(2491-2493)gcC>gcT	p.A831A	ACAD10_uc001tsp.3_Silent_p.A800A|ACAD10_uc001tsq.3_Silent_p.A800A|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.	800							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						CTCAGGTTGCCTCTTCAGATG	0.542000														57			40		0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43269342	43269343	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43269342_43269343GG>AA	uc021yzt.1	+	6	1072_1073	c.973_974GG>AA	c.(973-975)ggg>AAg	p.G325K	SLC22A7_uc010jyl.1_Missense_Mutation_p.G326K|SLC22A7_uc003ous.3_Missense_Mutation_p.G323K|SLC22A7_uc003out.3_Missense_Mutation_p.G323K	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	325						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.G325W(4)|p.A324T(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			AGTGGCCGCCGGGGAACGGGTG	0.589000														35			19		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	89495565	89495565	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:89495565G>A	uc021vkt.1	-	30		c.3375_splice	c.e30+1		abParts_uc021vku.1_Intron					Parts of antibodies, mostly variable regions.																		AGCACTGTGGGAGGATCTTGT	0.532000														44			23		0	0	1	0	0
CHST13	166012	broad.mit.edu	37	3	126261247	126261247	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:126261247C>T	uc003eja.3	+	2	897	c.852C>T	c.(850-852)tcC>tcT	p.S284S		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 13 (CHST13), mRNA.	284					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CGGGCGCATCCGACCTGAGCT	0.746000														7			5		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238272008	238272008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:238272008C>T	uc002vwl.2	-	13	6236	c.5951G>A	c.(5950-5952)cGa>cAa	p.R1984Q	COL6A3_uc002vwo.2_Missense_Mutation_p.R1778Q|COL6A3_uc010znj.1_Missense_Mutation_p.R1377Q	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1984	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTGACCACTCGTTCAAGGCC	0.478000														69			16		0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101534	81101534	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:81101534C>T	uc001szf.2	+	0	127	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	12					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GCTCCTATTTCTTCTACTTGG	0.493000														88			36		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124351444	124351444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124351444G>A	uc003ehg.3	+	34	5481	c.5354G>A	c.(5353-5355)gGa>gAa	p.G1785E	KALRN_uc003ehi.3_Missense_Mutation_p.G158E|KALRN_uc003ehk.3_Missense_Mutation_p.G88E|KALRN_uc003ehj.2_Missense_Mutation_p.G88E	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1785					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AAGGCAGATGGAAACATCAAA	0.552000														82			47		0	0	1	0	0
LETM1	3954	broad.mit.edu	37	4	1836644	1836644	+	Silent	SNP	G	A	A	rs144059275	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:1836644G>A	uc003gdv.3	-	4	1101	c.804C>T	c.(802-804)atC>atT	p.I268I	LETM1_uc010icc.3_Silent_p.I48I|LETM1_uc011bvg.2_Silent_p.I268I	NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	268	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CCATCTCCTCGATGGTGTCCT	0.562000														69			22		0	0	1	0	0
PRAMEF8	391002	broad.mit.edu	37	1	12979817	12979817	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12979817G>A	uc001aup.3	+	3	1092	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	337												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCAGCCCTGAGCCCCTCAC	0.582000														99			10		0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	129209148	129209148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:129209148C>T	uc010qun.2	+	42	4452	c.4388C>T	c.(4387-4389)cCa>cTa	p.P1463L	DOCK1_uc001ljt.3_Missense_Mutation_p.P1442L|DOCK1_uc009yaq.3_Missense_Mutation_p.P437L	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1442	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TATTCTCGGCCAATCCGGAAG	0.408000														29			11		0	0	1	0	0
PLAU	5328	broad.mit.edu	37	10	75676148	75676148	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:75676148G>A	uc001jwa.3	+	11	1266	c.1120_splice	c.e11-1	p.G374_splice	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Splice_Site_p.G357_splice|PLAU_uc010qkx.2_Splice_Site_p.G288_splice|PLAU_uc001jwb.3_Splice_Site|PLAU_uc001jwc.3_Splice_Site_p.G374_splice|PLAU_uc009xrq.1_Splice_Site_p.G338_splice	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	374	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	GCGTCACAGGGAGACTCAGGG	0.557000														20			5		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437486	120437486	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:120437486C>T	uc001eij.3	-	0	1662	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	492	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CAACGGCCTTCATACTTGCAA	0.488000														44			26		0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12815753	12815753	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12815753G>A	uc001auh.3	+	1	431	c.215G>A	c.(214-216)aGg>aAg	p.R72K	C1orf158_uc010obe.1_Missense_Mutation_p.R72K	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA.	72										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TATGGGAAGAGGAAAGTTGAG	0.527000														36			18		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96702033	96702033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96702033G>A	uc001kka.4	+	2	441	c.416G>A	c.(415-417)aGg>aAg	p.R139K	CYP2C9_uc009xut.3_Missense_Mutation_p.R139K|CYP2C9_uc001kjz.3_Missense_Mutation_p.R139K	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	139					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	ATGGGGAAGAGGAGCATTGAG	0.498000														105			50		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11648272	11648272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:11648272C>T	uc002gne.3	+	30	6338	c.6270C>T	c.(6268-6270)ttC>ttT	p.F2090F	DNAH9_uc010coo.3_Silent_p.F1384F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2090					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCCCATCTTCATGGGCCTGA	0.572000														23			19		0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62659058	62659058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62659058C>T	uc002yho.3	+	16	2476	c.2308C>T	c.(2308-2310)Cgt>Tgt	p.R770C	PRPF6_uc002yhp.3_Missense_Mutation_p.R730C	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	770					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GGAAAAGTCTCGTCTGAAGAA	0.607000														145			58		0	0	1	0	0
AX747417	0	broad.mit.edu	37	3	95374429	95374429	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:95374429G>A	uc003dro.1	-	4		c.1433C>T								Homo sapiens cDNA FLJ34909 fis, clone NT2RI2009301, moderately similar to BIFUNCTIONAL METHYLENETETRAHYDROFOLATE DEHYDROGENASE/CYCLOHYDROLASE, MITOCHONDRIAL PRECURSOR.																		AAGCATTGCAGATCTTTCTCT	0.398000														90			23		0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74548880	74548880	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:74548880G>A	uc003dpm.1	-	1	192	c.112C>T	c.(112-114)Cct>Tct	p.P38S		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	38	Ig-like C2-type 1.				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)		GAACCAACAGGGAAAATGCTG	0.363000														125			11		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6266847	6266847	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:6266847C>T	uc003mwv.3	-	3	638	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	F13A1_uc011dib.2_Missense_Mutation_p.R109Q	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	172					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R172Q(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCGACTGGTTCGAAGTACGCC	0.458000														110			55		0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10911968	10911968	+	Silent	SNP	G	A	A	rs142569799	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:10911968G>A	uc002ras.3	+	6	583	c.474G>A	c.(472-474)ggG>ggA	p.G158G	ATP6V1C2_uc002rat.3_Silent_p.G158G	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	158					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CTTTTAGGGGGAACCTCTTCA	0.537000														128			63		0	0	1	0	0
CALB2	794	broad.mit.edu	37	16	71408680	71408680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:71408680G>A	uc002faa.4	+	2	284	c.204G>A	c.(202-204)atG>atA	p.M68I	CALB2_uc010vme.2_Non-coding_Transcript|CALB2_uc002fac.4_Missense_Mutation_p.M68I	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	68	EF-hand 2.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GAGAAAAGATGAAGGAGTTCA	0.478000														50			16		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167674013	167674013	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:167674013G>A	uc010jjd.3	+	26	6042	c.6042G>A	c.(6040-6042)ggG>ggA	p.G2014G	ODZ2_uc003lzr.4_Silent_p.G1784G|ODZ2_uc003lzt.4_Silent_p.G1387G|ODZ2_uc010jje.3_Silent_p.G1278G	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)		ACAAGTATGGGAAACTCTCCA	0.507000														85			35		0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7866409	7866409	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:7866409G>A	uc002wmw.1	-	5	940	c.916C>T	c.(916-918)Ctt>Ttt	p.L306F	HAO1_uc010gbu.3_Missense_Mutation_p.L306F	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	306	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTGGCGCCAAGAGCCAGAGCT	0.488000														185			63		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5674779	5674779	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:5674779G>A	uc001qnm.2	-	24	2744	c.2672C>T	c.(2671-2673)tCg>tTg	p.S891L		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	896						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.S892L(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GTACTGTTTCGAAAACTCATA	0.502000														7			5		0	0	1	0	0
KCTD9	54793	broad.mit.edu	37	8	25298174	25298174	+	Missense_Mutation	SNP	G	A	A	rs143658803	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:25298174G>A	uc003xeo.3	-	3	452	c.230C>T	c.(229-231)tCt>tTt	p.S77F	DOCK5_uc003xek.3_Intron	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 9 (KCTD9), mRNA.	77	KHA.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		AGGAGGCTTAGAATCTGTCTG	0.393000														53			28		0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23396742	23396742	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23396742G>A	uc001whm.1	-	3	534	c.443C>T	c.(442-444)tCt>tTt	p.S148F	PRMT5_uc001whl.1_Missense_Mutation_p.S131F|PRMT5_uc010tnf.1_Missense_Mutation_p.S42F|PRMT5_uc010tnh.1_Missense_Mutation_p.S104F|PRMT5_uc010tng.1_Missense_Mutation_p.S87F|PRMT5_uc001whn.1_Intron|TRNA_uc021rqs.1_5'Flank|TRNA_uc021rqt.1_5'Flank	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	148					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TACCATGGAAGAGTGATGGCC	0.488000														55			23		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936890	15936890	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:15936890C>T	uc003jfn.1	+	3	1552	c.1071C>T	c.(1069-1071)atC>atT	p.I357I		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	357					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.I357I(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ACCTGAGCATCGCGCACTGCG	0.672000														20			6		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66423280	66423280	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:66423280G>A	uc002eom.4	+	4	792	c.636G>A	c.(634-636)acG>acA	p.T212T	CDH5_uc002eon.1_Silent_p.T212T	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	212	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TCACAATAACGAAAAGCTTGG	0.567000														65			26		0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669428	80669428	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:80669428G>A	uc021rxa.1	-	2	587	c.534C>T	c.(532-534)gcC>gcT	p.A178A	DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Silent_p.A142A|DIO2_uc010asy.3_Silent_p.A142A	NM_001007023		Q92813	IOD2_HUMAN	Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA.	142					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.A178A(1)|p.A142A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GTTTGCGGAAGGCTGGCAGCT	0.572000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			5		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41550202	41550202	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:41550202C>T	uc003xok.3	-	30	3906	c.3822G>A	c.(3820-3822)gaG>gaA	p.E1274E	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.E590E|ANK1_uc003xoi.3_Silent_p.E1274E|ANK1_uc003xoj.3_Silent_p.E1274E|ANK1_uc003xol.3_Silent_p.E1274E|ANK1_uc003xom.3_Silent_p.E1315E	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1274					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCACGAAGTTCTCATGCTGCT	0.577000														326			114		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105831820	105831820	+	Nonsense_Mutation	SNP	G	A	A	rs121912774		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105831820G>A	uc001kxr.3	-	7	602	c.433C>T	c.(433-435)Cga>Tga	p.R145*	COL17A1_uc010qqv.1_Nonsense_Mutation_p.R129*|COL17A1_uc009xxp.1_Nonsense_Mutation_p.R145*	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	145	Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTCTGCAGTCGAACTCGAATT	0.488000														36			23		0	0	1	0	0
DMKN	93099	broad.mit.edu	37	19	35993773	35993773	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35993773G>A	uc002nzm.4	-	9	1333	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S	DMKN_uc002nzi.4_5'Flank|DMKN_uc002nzj.3_Missense_Mutation_p.P58S|DMKN_uc002nzl.4_Missense_Mutation_p.P97S|DMKN_uc002nzk.4_Missense_Mutation_p.P31S|DMKN_uc002nzo.4_Missense_Mutation_p.P373S|DMKN_uc002nzn.4_Missense_Mutation_p.P343S|DMKN_uc002nzu.2_Missense_Mutation_p.P31S|DMKN_uc002nzv.2_Missense_Mutation_p.P31S|DMKN_uc002nzw.2_Missense_Mutation_p.P40S|DMKN_uc002nzq.2_Missense_Mutation_p.P60S|DMKN_uc002nzp.2_Missense_Mutation_p.P78S|DMKN_uc002nzr.2_Missense_Mutation_p.P40S|DMKN_uc002nzs.2_Missense_Mutation_p.P31S|DMKN_uc002nzt.2_Missense_Mutation_p.P31S|DMKN_uc010xsw.2_Missense_Mutation_p.P80S|DMKN_uc010xsv.1_Missense_Mutation_p.P31S	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	Homo sapiens dermokine (DMKN), transcript variant 2, mRNA.	384						extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGGGTGCTGGGGGGCGGGACC	0.622000														44			18		0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60785320	60785320	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:60785320C>T	uc001nqq.3	+	10	1897	c.1672C>T	c.(1672-1674)Ccg>Tcg	p.P558S	CD6_uc001nqp.3_Missense_Mutation_p.P558S|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.P526S|CD6_uc001nqt.3_Missense_Mutation_p.P517S	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	558					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	p.H557Y(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCAGTATCACCCGAGGAGCAA	0.552000														84			35		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005808	74005808	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74005808C>T	uc010wss.1	-	21	3772	c.3544G>A	c.(3544-3546)Gag>Aag	p.E1182K	EVPL_uc002jqi.2_Missense_Mutation_p.E1160K|EVPL_uc010wst.1_Missense_Mutation_p.E630K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1160	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCTCCTCCTCGAGGAGGCTC	0.622000														39			19		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9370586	9370586	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9370586T>C	uc021wam.1	+	12	1234	c.1219T>C	c.(1219-1221)Tcc>Ccc	p.S407P	PLCB4_uc010gbw.1_Missense_Mutation_p.S407P|PLCB4_uc010gbx.3_Missense_Mutation_p.S407P|PLCB4_uc021wal.1_Missense_Mutation_p.S407P|PLCB4_uc002wnh.3_Missense_Mutation_p.S254P	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	407	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.L406V(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGTAATTCTCTCCTTTGAAAA	0.368000														93			27		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30532907	30532907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30532907C>T	uc002dyi.4	+	30	3610	c.3434C>T	c.(3433-3435)tCt>tTt	p.S1145F	ITGAL_uc002dyj.4_Missense_Mutation_p.S1061F|ITGAL_uc010vev.2_Missense_Mutation_p.S379F	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	1145					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CAGCTGGCATCTGGGCAAGAG	0.582000														79			35		0	0	1	0	0
TMEM198	130612	broad.mit.edu	37	2	220413939	220413939	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:220413939G>A	uc002vme.3	+	4	1393	c.808G>A	c.(808-810)Gag>Aag	p.E270K	TMEM198_uc002vmf.3_Missense_Mutation_p.E270K|MIR3132_uc021vxc.1_5'Flank	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	Homo sapiens transmembrane protein 198 (TMEM198), mRNA.	270	Arg-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGATCGCAAGGAGAAAAGGCG	0.637000														177			14		0	0	1	0	0
OCLN	100506658	broad.mit.edu	37	5	68800117	68800117	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:68800117G>A	uc003jwu.3	+	1	482	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	OCLN_uc003jwv.4_Missense_Mutation_p.E16K|OCLN_uc021xzq.1_5'UTR|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_5'UTR|OCLN_uc021xzt.1_5'UTR	NM_002538	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 1, mRNA.	16					cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CAGGCCTGATGAATTGTAAGT	0.358000														24			12		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76502909	76502909	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76502909C>T	uc010dhp.2	-	29	4821	c.4696G>A	c.(4696-4698)Gct>Act	p.A1566T		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTGCCAAAGCCTTTTCACAG	0.542000														103			40		0	0	1	0	0
RELA	5970	broad.mit.edu	37	11	65423223	65423223	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65423223G>A	uc010ron.2	-	9	1142	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D	RELA_uc001off.3_Silent_p.D323D|RELA_uc001ofh.3_Silent_p.D320D|RELA_uc001ofg.3_Silent_p.D323D|RELA_uc021qlq.1_Silent_p.D323D|RELA_uc009yqr.3_Silent_p.D270D|RELA_uc001ofe.2_Silent_p.D323D|RELA_uc009yqs.1_Non-coding_Transcript	NM_021975	NP_068810	Q04206	TF65_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog A (avian) (RELA), transcript variant 1, mRNA.	323					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to UV-B|response to interleukin-1|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|transcription factor complex	NF-kappaB binding|activating transcription factor binding|chromatin binding|identical protein binding|phosphate binding|protein N-terminus binding|protein kinase binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GAGGCCGGGGGTCGGTGGGTC	0.627000														60			26		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666526	167666526	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167666526G>A	uc001gem.3	+	5	852	c.665G>A	c.(664-666)gGa>gAa	p.G222E	RCSD1_uc010pli.2_Missense_Mutation_p.G192E	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	222										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					TCCAGTGAGGGAGCAGCGGGA	0.597000														40			24		0	0	1	0	0
AGFG1	3267	broad.mit.edu	37	2	228399602	228399602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:228399602C>T	uc002vpc.2	+	7	1316	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S	AGFG1_uc002vpd.2_Missense_Mutation_p.P380S|AGFG1_uc002vpe.2_Missense_Mutation_p.P356S|AGFG1_uc002vpf.2_Missense_Mutation_p.P316S	NM_004504	NP_004495	P52594	AGFG1_HUMAN	Homo sapiens ArfGAP with FG repeats 1 (AGFG1), transcript variant 2, mRNA.	356					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	Golgi apparatus|cytoplasmic membrane-bounded vesicle|nuclear pore	ARF GTPase activator activity|DNA binding|RNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						AGGTAAAGCTCCTGTTGGTTC	0.448000														90			30		0	0	1	0	0
GPR21	2844	broad.mit.edu	37	9	125797421	125797421	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125797421C>T	uc011lzk.2	+	0	576	c.576C>T	c.(574-576)acC>acT	p.T192T	RABGAP1_uc004bnl.4_Intron|RABGAP1_uc011lzh.2_Intron|RABGAP1_uc011lzj.2_Intron|GPR21_uc011lzi.2_Non-coding_Transcript	NM_005294	NP_005285	Q99679	GPR21_HUMAN	Homo sapiens G protein-coupled receptor 21 (GPR21), mRNA.	192						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						CCTACTTCACCCTGTTCATCG	0.493000														112			27		0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32157053	32157053	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32157053G>A	uc001btk.1	-	18	1728	c.1363C>T	c.(1363-1365)Cct>Tct	p.P455S	COL16A1_uc001btj.1_Missense_Mutation_p.P284S|COL16A1_uc001btl.4_Missense_Mutation_p.P455S	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	455	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGGGGTCCAGGGAGGCCGGGG	0.667000														47			4		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128432	83128432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:83128432C>T	uc004eei.1	+	3	737	c.716C>T	c.(715-717)tCa>tTa	p.S239L	CYLC1_uc004eeh.1_Missense_Mutation_p.S238L	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	239					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	p.S238*(2)|p.S239*(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAGATTTGCTCAGAAAATAGT	0.333000														28			8		0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89619494	89619495	+	Silent	DNP	CC	TT	TT	rs1050404		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89619494_89619495CC>TT	uc002fnj.3	+	13	1908_1909	c.1887_1888CC>TT	c.(1885-1890)gccctg>gcTTtg	p.629_630AL>AL	SPG7_uc002fnk.1_Non-coding_Transcript|SPG7_uc002fnl.3_Silent_p.38_39AL>AL	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	629					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGTGCATGGCCCTGGGAGGACG	0.619000														26			8		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84510501	84510501	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:84510501G>A	uc004eeq.3	+	3	1202	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	ZNF711_uc004eep.3_Missense_Mutation_p.E106K|ZNF711_uc004eeo.3_Missense_Mutation_p.E106K	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	106					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GGATTTAGAGGAAGATGATGG	0.438000														48			63		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87679347	87679348	+	Silent	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:87679347_87679348GG>AA	uc003ydx.3	-	5	705_706	c.657_658CC>TT	c.(655-660)ctcctg>ctTTtg	p.219_220LL>LL	CNGB3_uc010maj.3_Silent_p.81_82LL>LL	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	219					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAGAGCCACAGGAGATAGAGTC	0.450000														31			9		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018533	161018533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:161018533C>T	uc001fxl.3	-	11	2624	c.2278G>A	c.(2278-2280)Gaa>Aaa	p.E760K	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Missense_Mutation_p.E606K|ARHGAP30_uc009wtx.3_Missense_Mutation_p.E433K	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	760	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACCTGGGCTTCCTCTCTTTGT	0.483000														243			95		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72156856	72156856	+	Nonsense_Mutation	SNP	G	A	A	rs140352254		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:72156856G>A	uc002fcc.4	-	18	2912	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*	PMFBP1_uc002fcd.3_Nonsense_Mutation_p.R909*|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Nonsense_Mutation_p.R764*	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	914										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ACCTGCTCTCGGAGCTGGTTT	0.532000														33			14		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980436	121980436	+	Missense_Mutation	SNP	G	A	A	rs104893689		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:121980436G>A	uc003eew.4	+	3	992	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	CASR_uc003eev.4_Missense_Mutation_p.R185Q	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	185			R -> Q (in FHH).		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)	TCTTTCCTCCGAACCATCCCC	0.502000														156			58		0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471756	47471756	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:47471756G>A	uc001rpm.3	-	2	1685	c.1030C>T	c.(1030-1032)Cac>Tac	p.H344Y	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.H344Y|AMIGO2_uc001rpl.3_Missense_Mutation_p.H344Y|AMIGO2_uc021qxg.1_Missense_Mutation_p.H344Y	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	344	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CTTCCATTGTGAAACACGTAA	0.423000														119			72		0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104835967	104835967	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104835967C>T	uc001kwm.3	+	6	2521	c.2358C>T	c.(2356-2358)ctC>ctT	p.L786L	CNNM2_uc001kwn.3_Silent_p.L764L	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	786					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ATTCTTCGCTCCTCCAAGTCT	0.537000														13			6		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957827	49957827	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:49957827C>T	uc004dow.1	-	4	1661	c.1537G>A	c.(1537-1539)Gga>Aga	p.G513R	AKAP4_uc004dou.1_Missense_Mutation_p.G504R|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.G335R	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	513					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CATGAGTTTCCTTGCTTTTGG	0.448000														53			86		0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14711348	14711348	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:14711348C>A	uc003jfm.4	-	11	1768	c.1437G>T	c.(1435-1437)gaG>gaT	p.E479D		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	479					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.E479*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CTGTCACCTCCTCTGTCGGAG	0.532000														204			90		3.1737e-70	3.1943e-70	1	1	0
IGDCC3	9543	broad.mit.edu	37	15	65621788	65621788	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65621788C>T	uc002aos.2	-	12	2397	c.2145G>A	c.(2143-2145)aaG>aaA	p.K715K	IGDCC3_uc002aor.1_Silent_p.K2K	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	715										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCTCCAGCTCCTTCATATCCA	0.657000														130			88		0	0	1	0	0
KCNK17	89822	broad.mit.edu	37	6	39267378	39267378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:39267378G>A	uc003ooo.3	-	4	965	c.824C>T	c.(823-825)tCc>tTc	p.S275F	KCNK17_uc003oop.3_3'UTR	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA.	275						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.S275F(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GTGGCAGCAGGAACATACCCT	0.562000														58			27		0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132197639	132197639	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:132197639G>A	uc003kxz.1	-	1	1259	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	GDF9_uc011cxj.1_Missense_Mutation_p.S248F	NM_005260	NP_005251	O60383	GDF9_HUMAN	Homo sapiens growth differentiation factor 9 (GDF9), mRNA.	336					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGATTGAAGGAAGCTGGGCC	0.483000														91			36		0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154296130	154296130	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154296130C>T	uc001feu.3	+	4	595	c.555C>T	c.(553-555)gtC>gtT	p.V185V	ATP8B2_uc001few.3_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	185					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACAAGGGAGTCCCTGCGGGTC	0.622000														142			47		0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52781635	52781635	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:52781635G>A	uc001wzr.3	+	0	620	c.369G>A	c.(367-369)acG>acA	p.T123T		NM_000956	NP_000947	P43116	PE2R2_HUMAN	Homo sapiens prostaglandin E receptor 2 (subtype EP2), 53kDa (PTGER2), mRNA.	123						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	GCCTGGCCACGATGCTCATGC	0.677000														84			29		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33590868	33590868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:33590868C>T	uc001uus.3	+	0	298	c.290C>T	c.(289-291)cCc>cTc	p.P97L	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	97	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACCCACCACCCCCTGGCACCC	0.721000														17			5		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126241007	126241007	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126241007G>A	uc003ifj.4	+	0	3441	c.3441G>A	c.(3439-3441)gaG>gaA	p.E1147E		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1147	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGATTTTGAGTTGCATGCCA	0.448000														150			64		0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122551357	122551357	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:122551357G>A	uc004etq.4	+	10	1897	c.1605G>A	c.(1603-1605)aaG>aaA	p.K535K	GRIA3_uc004etr.4_Silent_p.K535K|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Silent_p.K519K	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	535					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCATGATAAAGAAGCCTCAGA	0.428000														63			87		0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23329128	23329128	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:23329128G>A	uc002nrb.1	+	3		c.1481G>A								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						CAAATGTGAAGAATGTGGCAG	0.388000														55			24		0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135384291	135384291	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:135384291C>T	uc003vtb.3	-	7	1409	c.720G>A	c.(718-720)aaG>aaA	p.K240K	SLC13A4_uc003vta.3_Silent_p.K239K	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	239						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GGACTTGTGGCTTTTCCTAAC	0.542000														47			17		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140746018	140746018	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140746018C>T	uc003lju.2	+	0	2121	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.F707F	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	708					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)			TCCTGGCCTTCGTCATCGTGC	0.602000														293			28		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81654598	81654598	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:81654598G>A	uc021ssk.1	-	3	357	c.357C>T	c.(355-357)atC>atT	p.I119I	TMC3_uc021ssj.1_Silent_p.I119I|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Silent_p.I119I	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	119						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGGGAATGAAGATGACCACAA	0.483000														18			14		0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77948989	77948989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:77948989C>T	uc001xtz.3	-	3	723	c.649G>A	c.(649-651)Gac>Aac	p.D217N	ISM2_uc001xua.3_Intron|ISM2_uc001xty.3_Missense_Mutation_p.D129N	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	217						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCCTGGGGGTCCTCCACCACC	0.627000														101			47		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187670	140187670	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140187670G>A	uc003lhi.2	+	0	999	c.898G>A	c.(898-900)Gga>Aga	p.G300R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.G300R|PCDHAC2_uc011daa.2_Missense_Mutation_p.G300R	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	315	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G300*(2)		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)			TCCAATTACTGGACAAATTAT	0.358000														124			26		0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58078924	58078924	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:58078924C>T	uc002ena.3	+	9	2557	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	528	Hemopexin-like 4.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						ACACCTACTTCTACAAGGGCA	0.587000														34			13		0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100831	93100831	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:93100831G>A	uc001tch.2	+	1	875	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	C12orf74_uc001tci.3_Missense_Mutation_p.E142K|C12orf74_uc021rbt.1_Missense_Mutation_p.E142K	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	142										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GCCTGTCAATGAAGGGTCCCT	0.587000														53			27		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78846279	78846280	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:78846279_78846280GG>AA	uc001jxn.3	-	10	1583_1584	c.1406_1407CC>TT	c.(1405-1407)tcc>tTT	p.S469F	KCNMA1_uc021ptu.1_Missense_Mutation_p.S415F|KCNMA1_uc001jxj.2_Missense_Mutation_p.S469F|KCNMA1_uc001jxk.1_Missense_Mutation_p.S84F|KCNMA1_uc009xrt.1_Missense_Mutation_p.S289F|KCNMA1_uc001jxl.1_Missense_Mutation_p.S123F|KCNMA1_uc001jxo.3_Missense_Mutation_p.S469F|KCNMA1_uc001jxm.3_Missense_Mutation_p.S469F|KCNMA1_uc001jxq.3_Missense_Mutation_p.S469F	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	469	RCK N-terminal.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GATTGAGGACGGAACCCTGATA	0.475000														56			20		0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56113718	56113718	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56113718C>T	uc010rjg.2	+	0	204	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F68F(2)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGTACTTTTTCCTTAGACATT	0.408000										HNSCC(65;0.19)				144			45		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777014	18777014	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:18777014C>T	uc003zne.4	+	18	2939	c.2787C>T	c.(2785-2787)ttC>ttT	p.F929F		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	929	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGGCCCCCTTCGGCTATCTCA	0.662000														56			23		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21074807	21074807	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:21074807C>T	uc001iqi.3	-	27	3311	c.2914G>A	c.(2914-2916)Gag>Aag	p.E972K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Missense_Mutation_p.E228K|NEBL_uc021pnu.1_3'UTR	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	972	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAGGAGACCTCGTCTTCATCC	0.502000														52			50		0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54639208	54639208	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:54639208C>T	uc003jpy.4	+	7	1097	c.831C>T	c.(829-831)gtC>gtT	p.V277V	SKIV2L2_uc011cqi.2_Silent_p.V176V	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	277	Helicase ATP-binding.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CTGATAACGTCCACTATGTCT	0.353000														93			29		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75857507	75857507	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:75857507C>T	uc021zbv.1	-	21	4336	c.4301G>A	c.(4300-4302)cGa>cAa	p.R1434Q	COL12A1_uc021zbw.1_Missense_Mutation_p.R270Q|COL12A1_uc003phs.3_Missense_Mutation_p.R1434Q|COL12A1_uc003pht.3_Missense_Mutation_p.R270Q	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1434	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGTTTCCATTCGACTCACATA	0.368000														132			19		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52645340	52645340	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:52645340C>T	uc002xws.2	-	3	652	c.314G>A	c.(313-315)gGa>gAa	p.G105E	BCAS1_uc010zzb.1_Missense_Mutation_p.G8E|BCAS1_uc010gim.2_Missense_Mutation_p.G8E|BCAS1_uc002xwt.2_Missense_Mutation_p.G105E|BCAS1_uc010gil.1_Missense_Mutation_p.G105E|BCAS1_uc010zzc.2_Missense_Mutation_p.G8E	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	105						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCCGGTACGTCCTGGTACAGG	0.522000														53			10		0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53263106	53263106	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:53263106G>A	uc003dgo.3	-	9	1484	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W	TKT_uc003dgp.2_Missense_Mutation_p.R70W|TKT_uc011beo.1_Missense_Mutation_p.R391W|TKT_uc003dgq.3_Missense_Mutation_p.R438W|TKT_uc011beq.2_Missense_Mutation_p.R446W|TKT_uc011ber.2_Missense_Mutation_p.R240W	NM_001135055	NP_001128527	P29401	TKT_HUMAN	Homo sapiens transketolase (TKT), transcript variant 2, mRNA.	438					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	GGGACTGACCGAAACATAGCC	0.542000														150			62		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6943310	6943310	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:6943310G>A	uc002knm.3	-	61	9030	c.8936C>T	c.(8935-8937)aCt>aTt	p.T2979I	LAMA1_uc002knk.3_Missense_Mutation_p.T309I|LAMA1_uc002knl.3_Missense_Mutation_p.T432I|LAMA1_uc010wzj.2_Missense_Mutation_p.T2455I	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2979	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCTTGAAGAGTGTGCCATTT	0.493000														126			37		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11632983	11632983	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:11632983C>T	uc021zzo.1	-	2	1421	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	THSD7A_uc021zzn.1_Missense_Mutation_p.R390Q	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	390	TSP type-1 3.					integral to membrane		p.R390*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTGATGGTTCGTGTCCTTAC	0.512000										HNSCC(18;0.044)				42			22		0	0	1	0	0
TCRAV5.1a	0	broad.mit.edu	37	14	22237162	22237162	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22237162G>A	uc001wbt.1	+	1	246	c.239G>A	c.(238-240)gGa>gAa	p.G80E	TRA_uc021rpa.1_Intron|TCRAV5.1a_uc021rpd.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 6, partial cds, clone: un 84-2.																		CAAGATCCAGGAAGAGGCCCT	0.453000														69			28		0	0	1	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452023	43452023	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:43452023G>A	uc002rsv.4	-	1	1211	c.920C>T	c.(919-921)tCc>tTc	p.S307F	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA.	307					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGAGGCCgaggaacaggagga	0.781000														6			5		0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42941120	42941120	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:42941120G>A	uc002ihn.2	-	14	1577	c.1316C>T	c.(1315-1317)cCt>cTt	p.P439L	EFTUD2_uc010wje.1_Missense_Mutation_p.P404L|EFTUD2_uc010wjf.1_Missense_Mutation_p.P429L	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	439						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTTTGGAGAAGGGATATGCTG	0.547000														29			22		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228480406	228480406	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228480406C>T	uc009xez.1	+	39	10830	c.10786C>T	c.(10786-10788)Cgt>Tgt	p.R3596C	OBSCN_uc001hsn.3_Missense_Mutation_p.R3596C|OBSCN_uc001hsq.1_Missense_Mutation_p.R852C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3596	Ig-like 36.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGCAGATTCGTGGCCTGGC	0.602000														127			53		0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	70014033	70014033	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:70014033C>T	uc003dnz.3	+	9	1360	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	MITF_uc011bgb.2_Silent_p.S347S|MITF_uc003doa.3_Silent_p.S398S|MITF_uc003dob.3_Silent_p.S383S|MITF_uc021xam.1_Silent_p.S236S|MITF_uc003doe.3_Silent_p.S292S|MITF_uc003dof.3_Silent_p.S298S	NM_198159	NP_001171896	O75030	MITF_HUMAN	Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.	405					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		ATGGACTTTCCCTTATTCCAT	0.453000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""							96			38		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24344800	24344800	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24344800C>T	uc003xeb.3	+	10	1174	c.1061C>T	c.(1060-1062)tCa>tTa	p.S354L	ADAM7_uc003xec.3_Missense_Mutation_p.S126L	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	354	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACCTGTCCTTCAGGAAAATGC	0.458000														28			16		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040970	147040970	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:147040970C>T	uc010jgo.1	-	1	316	c.168G>A	c.(166-168)aaG>aaA	p.K56K	JAKMIP2_uc003loq.1_Silent_p.K56K|JAKMIP2_uc011dbx.1_Silent_p.K14K|JAKMIP2_uc003lor.1_Silent_p.K56K|LOC153469_uc003lop.1_3'UTR	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	56						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGAATCCTCTTCGCTTCTT	0.507000														116			55		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28229733	28229733	+	Splice_Site	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:28229733A>G	uc009xky.3	-	13	1842	c.1744_splice	c.e13-1	p.V582_splice	ARMC4_uc010qds.2_Splice_Site_p.V107_splice|ARMC4_uc010qdt.2_Splice_Site_p.V274_splice|ARMC4_uc001itz.3_Splice_Site_p.V582_splice|ARMC4_uc010qdu.1_Splice_Site_p.V274_splice	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	582							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TAGTAGAGCAACCTATAATAA	0.448000														65			33		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728689	51728689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51728689G>A	uc002pwa.2	+	1	293	c.253G>A	c.(253-255)Gag>Aag	p.E85K	CD33_uc010eos.1_Missense_Mutation_p.E85K|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	85	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AGTACAGGAGGAGACTCAGGG	0.522000														96			26		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104064570	104064570	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:104064570C>T	uc001tjw.3	+	21	2542	c.2356C>T	c.(2356-2358)Cct>Tct	p.P786S		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	786					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TAAATACGGACCTCGGTGTAA	0.557000														22			4		0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69959346	69959346	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:69959346C>T	uc002exu.1	+	11	1282	c.1193C>T	c.(1192-1194)tCg>tTg	p.S398L	WWP2_uc002exv.1_Missense_Mutation_p.S398L|WWP2_uc010vlm.1_Missense_Mutation_p.S282L|WWP2_uc010vln.1_Missense_Mutation_p.S16L|WWP2_uc002exw.1_5'UTR	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	398					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	p.S398L(2)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCGAGTGCTTCGACTGACCAT	0.488000														397			182		0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	36846859	36846859	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:36846859G>A	uc003zzo.1	-	8	1528	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	PAX5_uc011lpt.1_Silent_p.F156F|PAX5_uc011lpu.1_Non-coding_Transcript|PAX5_uc011lpv.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Missense_Mutation_p.S283F|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Silent_p.F260F|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Silent_p.F317F|PAX5_uc011lqa.1_Silent_p.F252F|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Silent_p.F326F|PAX5_uc010mlp.1_Intron	NM_016734	NP_057953	Q02548	PAX5_HUMAN	Homo sapiens paired box 5 (PAX5), mRNA.	360					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(11)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CCGGGTTGGGGAACCTCCAGG	0.627000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""									21			9		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128150761	128150761	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:128150761C>T	uc011ebt.2	-	2	718	c.569G>A	c.(568-570)tGg>tAg	p.W190*	THEMIS_uc010kfa.3_Nonsense_Mutation_p.W93*|THEMIS_uc021zfa.1_Nonsense_Mutation_p.W190*|THEMIS_uc010kfb.3_Nonsense_Mutation_p.W155*	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	190	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGGAATCTTCCATTCAACAAT	0.353000														48			33		0	0	1	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99021527	99021527	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99021527G>A	uc011kiw.2	-	7	1998	c.1938C>T	c.(1936-1938)gcC>gcT	p.A646A	ATP5J2-PTCD1_uc003uqh.3_Silent_p.A597A	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	646								p.A597A(1)									GCTTCCTGATGGCCGCGTTGA	0.527000														80			6		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27506194	27506194	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:27506194G>A	uc002dov.2	-	15	2708	c.2668C>T	c.(2668-2670)Ccc>Tcc	p.P890S	GTF3C1_uc002dou.3_Missense_Mutation_p.P890S	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	890						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGGATTGGGGGGATGTAGCGC	0.562000														39			7		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29012441	29012441	+	Missense_Mutation	SNP	C	T	T	rs55974987	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29012441C>T	uc001usb.3	-	3	715	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	FLT1_uc010aar.1_Missense_Mutation_p.E144K|FLT1_uc001usc.3_Missense_Mutation_p.E144K|FLT1_uc010tdp.1_Missense_Mutation_p.E144K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	144			E -> K (in dbSNP:rs55974987).		cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGTATAATTTCGGGGATTTCA	0.383000														43			9		0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47587925	47587925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:47587925G>A	uc002ioz.4	+	3	845	c.720G>A	c.(718-720)caG>caA	p.Q240Q		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	240	Ser/Thr-rich.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCAGCTCCCAGCCCGTGGTGA	0.617000														50			18		0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93119327	93119327	+	Missense_Mutation	SNP	C	T	T	rs142007147		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:93119327C>T	uc001yap.3	+	5	2085	c.1933C>T	c.(1933-1935)Cgc>Tgc	p.R645C	RIN3_uc010auk.3_Missense_Mutation_p.R307C|RIN3_uc001yaq.3_Missense_Mutation_p.R570C|RIN3_uc001yar.1_Missense_Mutation_p.R307C|RIN3_uc001yas.1_Missense_Mutation_p.R307C	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	645	Interaction with RAB5B.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.R645C(2)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCAGGAGATTCGCACCATGAT	0.622000														37			15		0	0	1	0	0
ZNF74	7625	broad.mit.edu	37	22	20761100	20761100	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:20761100C>T	uc010gsm.3	+	5	1989	c.1777C>T	c.(1777-1779)Ctc>Ttc	p.L593F	ZNF74_uc002zsg.3_Missense_Mutation_p.L522F|ZNF74_uc002zsh.3_Missense_Mutation_p.L593F|ZNF74_uc002zsi.3_Missense_Mutation_p.L522F|ZNF74_uc010gsn.3_Missense_Mutation_p.L522F	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.	593					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			caaacacctgctcagcacata	0.592000														60			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179642167	179642167	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179642167G>A	uc021vsy.1	-	25	4850	c.4625C>T	c.(4624-4626)tCa>tTa	p.S1542L	TTN_uc021vsz.1_Missense_Mutation_p.S1496L|TTN_uc021vta.1_Missense_Mutation_p.S1496L|TTN_uc021vtb.1_Missense_Mutation_p.S1496L|TTN_uc002unb.2_Missense_Mutation_p.S1542L|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1542	Ig-like 6.						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)			TAAAATCACTGAAATTGAAGA	0.383000														32			8		0	0	1	0	0
RBM38	55544	broad.mit.edu	37	20	55982841	55982841	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:55982841C>T	uc010zzj.2	+	3	843	c.659C>T	c.(658-660)cCc>cTc	p.P220L	MIR5095_uc021wfc.1_Intron|RBM38_uc010zzk.2_3'UTR	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	Homo sapiens RNA binding motif protein 38 (RBM38), transcript variant 1, mRNA.	220					3'-UTR-mediated mRNA stabilization|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 transcription of p21 class mediator|RNA splicing|cell cycle|cell cycle arrest|cell differentiation|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing	cytosol|nucleus	RNA binding|mRNA 3'-UTR binding|mRNA binding|nucleotide binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			GCCGCAGCACCCGCGGGCACC	0.672000														3			3		0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16475061	16475061	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16475061G>A	uc001aya.2	-	2	790	c.635C>T	c.(634-636)cCt>cTt	p.P212L	EPHA2_uc010oca.2_Missense_Mutation_p.P212L	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	212	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GATGGTCTCAGGGAAGTGGGC	0.652000														48			19		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390835	208390835	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:208390835G>A	uc001hgz.3	-	1	1191	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F	PLXNA2_uc001hha.4_Missense_Mutation_p.L199F	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	145	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGGATGAAGAGGTCATCCAGC	0.572000														148			27		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83182733	83182733	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:83182733C>T	uc001paj.2	-	18	2370	c.2067G>A	c.(2065-2067)atG>atA	p.M689I	DLG2_uc001pai.2_Missense_Mutation_p.M568I|DLG2_uc010rsy.1_Missense_Mutation_p.M638I|DLG2_uc021qof.1_Missense_Mutation_p.M728I|DLG2_uc010rsz.1_Missense_Mutation_p.M685I|DLG2_uc010rta.1_Missense_Mutation_p.M671I|DLG2_uc001pak.2_Missense_Mutation_p.M794I|DLG2_uc010rtb.1_Missense_Mutation_p.M656I|DLG2_uc010rsx.1_Missense_Mutation_p.M166I|DLG2_uc010rsw.1_Missense_Mutation_p.M153I	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	689	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCCGATCCTTCATGGGCCCCA	0.433000														34			23		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228264	3228264	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:3228264G>A	uc004crg.4	-	6	8137	c.7980C>T	c.(7978-7980)acC>acT	p.T2660T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2660	Ig-like C2-type 11.					extracellular region				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)				CCCCGGGAGGGGTGCAGGGGA	0.592000														31			38		0	0	1	0	0
CHST13	166012	broad.mit.edu	37	3	126261284	126261284	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:126261284G>A	uc003eja.3	+	2	934	c.889G>A	c.(889-891)Gcc>Acc	p.A297T		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 13 (CHST13), mRNA.	297					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		gccccggggagccgccgccTC	0.706000														8			4		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49295430	49295430	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:49295430C>T	uc002rww.3	-	2	263	c.153_splice	c.e2-1	p.L51_splice	FSHR_uc010fbn.3_Splice_Site_p.L51_splice|FSHR_uc002rwx.3_Splice_Site_p.L51_splice|FSHR_uc010fbo.2_Splice_Site	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	51					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GACAAACCTCCTGCAAAGAGA	0.383000									Gonadal Dysgenesis, 46 XX					104			11		0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117103972	117103972	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117103972G>A	uc004biq.3	-	19	4043	c.3908C>T	c.(3907-3909)tCt>tTt	p.S1303F	AKNA_uc004bin.3_Missense_Mutation_p.S550F|AKNA_uc004bio.3_Missense_Mutation_p.S763F|AKNA_uc004bip.3_Missense_Mutation_p.S1222F|AKNA_uc004bir.3_Missense_Mutation_p.S1303F|AKNA_uc004bis.3_Missense_Mutation_p.S1303F|AKNA_uc010mve.2_Missense_Mutation_p.S1184F	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1303			S -> P (in dbSNP:rs2250242).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGGAGTTGAAGATGCTTTTCT	0.622000														69			16		0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138697051	138697051	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:138697051G>A	uc011mwn.1	-	12	1793	c.1787C>T	c.(1786-1788)tCa>tTa	p.S596L	MCF2_uc004fav.3_Missense_Mutation_p.S451L|MCF2_uc004fau.3_Missense_Mutation_p.S451L|MCF2_uc010nsh.2_Missense_Mutation_p.S451L|MCF2_uc011mwm.2_Missense_Mutation_p.S412L|MCF2_uc011mwl.2_Missense_Mutation_p.S412L|MCF2_uc011mwo.1_Missense_Mutation_p.S511L|MCF2_uc004faw.2_Missense_Mutation_p.S511L	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	451	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)					TTGTTTAGATGAAAAAAATGG	0.368000														58			54		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516686	140516686	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140516686C>T	uc003liq.3	+	0	1887	c.1670C>T	c.(1669-1671)tCg>tTg	p.S557L		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	557	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGACAACTCGCCCTTCGTG	0.716000														59			30		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70446398	70446398	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:70446398C>T	uc001jok.4	+	10	5843	c.5338C>T	c.(5338-5340)Cga>Tga	p.R1780*		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1780					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACCTATTCCCCGAATCAAGCG	0.468000														81			21		0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122756816	122756816	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:122756816G>A	uc001pym.3	+	1	556	c.259G>A	c.(259-261)Gag>Aag	p.E87K	C11orf63_uc001pyl.1_Missense_Mutation_p.E87K	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	87										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AAGCCTGCACGAGATGGAAGA	0.537000														105			31		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390399	197390399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197390399G>A	uc001gtz.3	+	5	1650	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	CRB1_uc010poz.2_Missense_Mutation_p.E412K|CRB1_uc009wza.3_Missense_Mutation_p.E369K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.E481K|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.E130K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	481	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GTCCCTGTGTGAAATCGCAAC	0.498000														73			6		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101679563	101679563	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:101679563C>T	uc001tia.1	+	3	386	c.230C>T	c.(229-231)tCa>tTa	p.S77L	UTP20_uc009ztz.1_Missense_Mutation_p.S77L	NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	77					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAATGCCAATCATTCAATCAG	0.358000														85			36		0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327717	52327717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52327717C>T	uc002pxt.1	+	1	900	c.716C>T	c.(715-717)cCc>cTc	p.P239L	FPR3_uc021uyq.1_Missense_Mutation_p.P239L	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	239					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.R238H(2)|p.P239P(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TCCAGCCGTCCCTTACGTGTC	0.453000														41			19		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24511603	24511603	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:24511603G>A	uc003jgr.2	-	5	1341	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	279	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		GAGGATTCAAGAACTCGAAGA	0.423000										HNSCC(23;0.051)				44			10		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29007989	29007989	+	Silent	SNP	C	T	T	rs56405013	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29007989C>T	uc001usb.3	-	5	1065	c.780G>A	c.(778-780)acG>acA	p.T260T	FLT1_uc010aar.1_Silent_p.T260T|FLT1_uc001usc.3_Silent_p.T260T|FLT1_uc010tdp.1_Silent_p.T260T	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	260	Ig-like C2-type 3.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.N259K(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTTGAACTCTCGTGTTCAAGG	0.433000														84			40		0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376712	8376712	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8376712C>T	uc001qui.2	-	4	782	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	FAM90A1_uc001quh.2_Missense_Mutation_p.E75K	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	75							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CCTTCCTTTTCCCCAAAGTTC	0.547000														138			27		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740730	62740730	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62740730C>T	uc001dah.4	-	2	423	c.46G>A	c.(46-48)Gag>Aag	p.E16K	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	16										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGGTCTTTCTCTTCATCCCCC	0.453000														77			28		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77631416	77631416	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77631416G>A	uc011cbx.2	+	2	1384	c.431G>A	c.(430-432)gGg>gAg	p.G144E	SHROOM3_uc011cbz.1_5'UTR	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	144					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGGTCAGGAGGGGTTAAACTT	0.567000														46			17		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87040294	87040294	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:87040294G>A	uc009wcs.3	+	9	1583	c.1539G>A	c.(1537-1539)gtG>gtA	p.V513V	CLCA4_uc009wct.3_Silent_p.V276V|CLCA4_uc009wcu.3_Silent_p.V333V	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	513						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			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)		ATAGTACAGTGGGAAAGGACA	0.393000														63			26		0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12144525	12144525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:12144525G>A	uc001atq.3	+	1	290	c.68G>A	c.(67-69)cGa>cAa	p.R23Q	TNFRSF8_uc010obc.2_Intron	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	23					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCAGGATCGACCCTTCGAG	0.597000														104			10		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166976311	166976311	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:166976311C>T	uc003irh.2	+	12	2255	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F	TLL1_uc011cjn.2_Silent_p.F559F|TLL1_uc011cjo.2_Silent_p.F360F	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	536	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)		TAGGGCGTTTCTGTGGTTATG	0.398000														69			27		0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159409	18159409	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:18159409C>T	uc021qek.1	+	0	660	c.660C>T	c.(658-660)ctC>ctT	p.L220L	MRGPRX3_uc001mnu.3_Silent_p.L220L	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	220						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCATCCTCCTCACAGTGCTGG	0.552000														77			28		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48697087	48697087	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48697087C>T	uc002irk.1	+	33	6197	c.5825C>T	c.(5824-5826)tCc>tTc	p.S1942F	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Missense_Mutation_p.S1908F|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Missense_Mutation_p.S1942F|CACNA1G_uc002irq.1_Missense_Mutation_p.S1919F|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Missense_Mutation_p.S1931F|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002iru.1_Missense_Mutation_p.S1908F|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Intron|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Missense_Mutation_p.S1844F|CACNA1G_uc002ise.1_Missense_Mutation_p.S1810F|CACNA1G_uc002isf.1_Missense_Mutation_p.S1837F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1942					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ATCCAGGGCTCCCTGGAGTGG	0.682000														18			4		0	0	1	0	0
TBC1D3	729873	broad.mit.edu	37	17	36288274	36288274	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:36288274G>A	uc010wdk.1	+	4	544	c.543G>A	c.(541-543)atG>atA	p.M181I	TBC1D3_uc002hoo.2_Missense_Mutation_p.M120I|TBC1D3_uc002hop.2_Non-coding_Transcript|TBC1D3_uc010wdj.1_Missense_Mutation_p.M40I|TBC1D3_uc010cvf.1_Missense_Mutation_p.M120I|TBC1D3_uc002hoq.2_Missense_Mutation_p.M120I|DQ586040_uc002hpl.3_5'Flank|DQ587906_uc002hor.3_5'Flank|DQ585853_uc021tvy.1_5'Flank	NM_032258	NP_115634	Q8IZP1	TBC3A_HUMAN	Homo sapiens TBC1 domain family, member 3F (TBC1D3F), mRNA.	120	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGAGGAAATGAAGTTGAAAA	0.557000														584			64		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50465065	50465065	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:50465065G>A	uc001vdk.2	+	0	521	c.339G>A	c.(337-339)gaG>gaA	p.E113E						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		CACCTTTAGAGGATGCCAGCT	0.403000														167			64		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114274902	114274902	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:114274902G>A	uc003ibe.4	+	37	5228	c.5128G>A	c.(5128-5130)Gaa>Aaa	p.E1710K	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.E1725K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1677					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAATTAAAAGAAAAGCAGAA	0.398000														166			23		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102713470	102713470	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102713470G>A	uc001phj.1	-	1	348	c.283C>T	c.(283-285)Cct>Tct	p.P95S		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	95					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CCAACATCAGGAACTCCACAC	0.493000														38			17		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739306	55739306	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:55739306G>A	uc003pcq.3	-	0	1070	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S	BMP5_uc011dxf.2_Missense_Mutation_p.P120S	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	120					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACCCATTGGGAGAGGCTGGG	0.517000														106			42		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833950	24833950	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:24833950C>T	uc001iru.4	+	19	5655	c.5252C>T	c.(5251-5253)cCc>cTc	p.P1751L	KIAA1217_uc001irs.3_Missense_Mutation_p.P1072L|KIAA1217_uc001irt.4_Missense_Mutation_p.P1117L|KIAA1217_uc010qcy.2_Missense_Mutation_p.P1182L|KIAA1217_uc010qcz.2_Missense_Mutation_p.P1157L|KIAA1217_uc001irw.3_Missense_Mutation_p.P901L|KIAA1217_uc001irz.3_Missense_Mutation_p.P835L|KIAA1217_uc001irx.3_Missense_Mutation_p.P1434L|KIAA1217_uc001iry.3_Missense_Mutation_p.P875L	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1751					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATGCCTGTCCCCATGAGTGCC	0.577000														128			59		0	0	1	0	0
C16orf57	79650	broad.mit.edu	37	16	58044008	58044008	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:58044008C>T	uc002emz.3	+	2	552	c.441C>T	c.(439-441)tcC>tcT	p.S147S	C16orf57_uc002emy.3_Non-coding_Transcript|C16orf57_uc010via.2_Silent_p.S147S|C16orf57_uc010vib.2_Silent_p.S147S|C16orf57_uc010vic.1_Silent_p.S96S	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN	Homo sapiens chromosome 16 open reading frame 57 (C16orf57), transcript variant 1, mRNA.	147										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	8						GTATGACCTCCTTCCACAGGT	0.597000														48			6		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480105	73480105	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:73480105C>T	uc003xzb.3	+	1	724	c.136C>T	c.(136-138)Cac>Tac	p.H46Y		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	46					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)			GGGCCTCAACCACGAAGTCCT	0.572000														79			42		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196309524	196309524	+	Missense_Mutation	SNP	G	A	A	rs140538298		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:196309524G>A	uc001gtd.1	-	15	1790	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.S527L|KCNT2_uc001gtf.1_Missense_Mutation_p.S577L|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.S577L|KCNT2_uc001gth.1_Missense_Mutation_p.S98L	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	577						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATGATAAAACGACCTGGACAC	0.303000														106			30		0	0	1	0	0
HSD17B3	3293	broad.mit.edu	37	9	99012059	99012059	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:99012059G>A	uc004awa.1	-	5	511	c.463C>T	c.(463-465)Cat>Tat	p.H155Y	HSD17B3_uc010msc.1_Missense_Mutation_p.H155Y	NM_000197	NP_000188	P37058	DHB3_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA.	155					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	ATGTTACAATGGATGAGGCTC	0.398000														52			15		0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50783766	50783766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:50783766C>T	uc021tib.1	+	0	280	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C	CYLD_uc002egn.1_Missense_Mutation_p.R53C|CYLD_uc002ego.3_Missense_Mutation_p.R53C|CYLD_uc010cbs.1_Missense_Mutation_p.R53C|CYLD_uc002egp.1_Missense_Mutation_p.R53C|CYLD_uc002egq.1_Missense_Mutation_p.R53C|CYLD_uc002egr.1_Missense_Mutation_p.R53C|CYLD_uc002egs.1_Missense_Mutation_p.R53C	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	53					Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TATTCAAGATCGTTCTGTGGG	0.378000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					98			30		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86697680	86697680	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:86697680G>A	uc002blz.1	+	2	224	c.144G>A	c.(142-144)aaG>aaA	p.K48K		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	48					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.K48Q(1)		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						TTGGACGGAAGGCCCTAGAAT	0.448000														18			10		0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25850805	25850805	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:25850805C>T	uc003nfk.4	-	7	985	c.875G>A	c.(874-876)aGa>aAa	p.R292K	SLC17A3_uc003nfi.4_Missense_Mutation_p.R214K|SLC17A3_uc011djz.1_3'UTR|SLC17A3_uc011dka.1_Missense_Mutation_p.R214K	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	214					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GGGTAGAGATCTGAGCATAGC	0.423000														82			20		0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61508254	61508254	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:61508254G>A	uc002sbe.3	-	37	5144	c.5122C>T	c.(5122-5124)Cct>Tct	p.P1708S	USP34_uc002sbf.3_5'Flank	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	1708					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGAGCATCAGGAAGAAATTTC	0.388000														28			8		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38877410	38877410	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38877410C>T	uc021yzh.1	+	64	9739	c.9630C>T	c.(9628-9630)ttC>ttT	p.F3210F	DNAH8_uc003ooe.2_Silent_p.F2993F|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTCCTACTTCCTTTCAGACT	0.448000														81			28		0	0	1	0	0
AK300121	0	broad.mit.edu	37	12	52649870	52649870	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52649870G>A	uc010snr.1	-	1	375	c.27C>T	c.(25-27)gcC>gcT	p.A9A	KRT86_uc010snq.2_Intron					SubName: Full=cDNA FLJ60029, highly similar to Keratin, type II cuticular Hb3;																		TGAGCTCTGAGGCCAGCCTCC	0.542000														123			18		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38990558	38990558	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38990558G>A	uc002oit.3	+	44	7355	c.7225G>A	c.(7225-7227)Gaa>Aaa	p.E2409K	RYR1_uc002oiu.3_Missense_Mutation_p.E2409K|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2409	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTTTGGTGAGGAACCGCCTGA	0.632000														93			36		0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78474955	78474955	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:78474955C>T	uc002bdh.3	-	6	953	c.747G>A	c.(745-747)atG>atA	p.M249I	ACSBG1_uc010umx.2_Missense_Mutation_p.M7I|ACSBG1_uc010umw.2_Missense_Mutation_p.M245I|ACSBG1_uc010umy.2_Missense_Mutation_p.M142I	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	249					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TGAATTCCTCCATCTGTAGCC	0.607000														86			23		0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34867273	34867273	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:34867273G>A	uc010wcy.2	-	12	1908	c.916C>T	c.(916-918)Ctt>Ttt	p.L306F	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.L306F|MYO19_uc010wcz.1_Non-coding_Transcript	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	306	Myosin head-like.					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATATTGCCAAGGTGCAGCAGT	0.607000														0			2		0	0	1	0	0
C1QTNF6	114904	broad.mit.edu	37	22	37578762	37578762	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37578762G>A	uc003aqx.1	-	2	566	c.303C>T	c.(301-303)gaC>gaT	p.D101D	C1QTNF6_uc003aqw.1_Silent_p.D82D|C1QTNF6_uc003aqy.1_Silent_p.D101D|C1QTNF6_uc003aqz.1_Intron	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.	82	Collagen-like.					collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TTGGGCCTGGGTCCCCTTTGT	0.642000														20			14		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32036794	32036794	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32036794C>T	uc003nzl.2	-	15	5909	c.5707G>A	c.(5707-5709)Gtg>Atg	p.V1903M		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1985	Fibronectin type-III 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCTCAGTCACCATCCAGGAG	0.582000														93			45		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48614119	48614120	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48614119_48614120GG>AA	uc003ctz.2	-	66	5690_5691	c.5689_5690CC>TT	c.(5689-5691)cct>TTt	p.P1897F		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1897	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.P1897T(2)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGGCCAGGAGGGCCCACTGGC	0.614000														8			4		0	0	1	0	0
ARFIP1	27236	broad.mit.edu	37	4	153791994	153791994	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:153791994C>T	uc003imz.3	+	3	568	c.292C>T	c.(292-294)Cct>Tct	p.P98S	ARFIP1_uc003inb.3_Intron|ARFIP1_uc003ina.3_Intron|ARFIP1_uc003inc.3_Missense_Mutation_p.P98S|ARFIP1_uc011cij.2_Intron	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN	Homo sapiens ADP-ribosylation factor interacting protein 1 (ARFIP1), transcript variant 1, mRNA.	98					intracellular protein transport|regulation of protein secretion	Golgi membrane|cytosol			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					TTTAATTGTTCCTGCAGGTAT	0.433000														42			28		0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30432372	30432372	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:30432372C>T	uc002wwt.1	-	0	1049	c.974G>A	c.(973-975)gGa>gAa	p.G325E		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	325					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA 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	p.G325E(2)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GAAGAACATTCCTGGCGTCCG	0.617000														79			28		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947463	237947463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:237947463G>A	uc001hyl.1	+	89	12571	c.12451G>A	c.(12451-12453)Gaa>Aaa	p.E4151K	RYR2_uc010pya.2_Missense_Mutation_p.E566K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4151					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)			GGTCTATTTTGAAATCAGTGA	0.498000														96			60		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530577	140530577	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140530577G>A	uc003lir.3	+	0	739	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	247	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCTCTATGAAGCACAAGT	0.547000														39			19		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56343630	56343630	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56343630C>T	uc002ivt.3	+	10	1952	c.1636C>T	c.(1636-1638)Cat>Tat	p.H546Y	LPO_uc010wns.2_Missense_Mutation_p.H487Y|LPO_uc010dcp.3_Missense_Mutation_p.H463Y|LPO_uc010dcq.3_Missense_Mutation_p.H217Y|LPO_uc010dcr.3_Missense_Mutation_p.H109Y	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	546					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCACAGGATCCATGGCTTTGA	0.532000														44			4		0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53269385	53269385	+	Missense_Mutation	SNP	G	A	A	rs137948996	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53269385G>A	uc002qab.4	-	2	1910	c.1624C>T	c.(1624-1626)Cat>Tat	p.H542Y	ZNF600_uc021uyz.1_Missense_Mutation_p.H542Y	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		CGATGGCAATGAAGGTATGAC	0.458000														262			101		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174673	207174673	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:207174673C>A	uc002vbp.2	+	4	5671	c.5421C>A	c.(5419-5421)gtC>gtA	p.V1807V		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1807							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAAGGATGTCATAGAGGATA	0.408000														48			29		3.57733e-08	3.58718e-08	1	1	0
ARMC1	55156	broad.mit.edu	37	8	66517673	66517673	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:66517673G>A	uc003xvl.3	-	4	821	c.566C>T	c.(565-567)tCa>tTa	p.S189L	ARMC1_uc011leo.2_Missense_Mutation_p.S87L	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA.	189					metal ion transport		metal ion binding	p.R188H(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			TTTCAAATCTGAACGGATTCG	0.333000														78			20		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37454063	37454063	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:37454063G>A	uc021ppc.1	+	17	1975	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E626K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	682						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGACTATGAAGAAAATTCTTG	0.289000														65			41		0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261887	21261887	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:21261887G>A	uc010bwp.1	+	1	1043	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	334								p.D334N(2)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GTGGGATGACGATGAAGTGGA	0.517000														32			17		0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155373	106155373	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:106155373G>A	uc011cez.2	+	2	742	c.337G>A	c.(337-339)Gga>Aga	p.G113R	TET2_uc003hxk.3_Missense_Mutation_p.G92R|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.G92R|TET2_uc010ilp.2_Missense_Mutation_p.G92R|TET2_uc021xql.1_Missense_Mutation_p.G92R	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	92					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTTGCAAAATGGAGGAATAAA	0.403000			"""Mis N, F"""		MDS									72			28		0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100693400	100693400	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:100693400C>T	uc004axy.3	-	2	385	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	HEMGN_uc004axz.3_Missense_Mutation_p.E93K	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	93					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ATTTCCTTTTCTATCTGTGGC	0.443000														94			24		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40411717	40411717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40411717C>T	uc002omp.4	-	6	3919	c.3911G>A	c.(3910-3912)cGa>cAa	p.R1304Q		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1304	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACACTGACTCGCCCATTACC	0.627000														114			55		0	0	1	0	0
SMYD2	56950	broad.mit.edu	37	1	214504346	214504346	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:214504346C>T	uc021pix.1	+	8	903	c.870C>T	c.(868-870)gcC>gcT	p.A290A	SMYD2_uc021piw.1_Silent_p.A198A|SMYD2_uc009xdl.1_Intron	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	Homo sapiens SET and MYND domain containing 2 (SMYD2), mRNA.	290					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	p.A290A(2)		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)		AGGCAGAAGCCATCCGAGACA	0.502000														113			48		0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35786520	35786520	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:35786520C>T	uc002nyy.2	+	3	249	c.51C>T	c.(49-51)tcC>tcT	p.S17S	MAG_uc002nyx.2_Silent_p.S17S|MAG_uc010eds.2_5'UTR|MAG_uc002nyz.2_Silent_p.S17S	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	17					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCGCAGCCTCCCGAGGGGGTC	0.687000														47			25		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73477952	73477952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:73477952C>T	uc004aid.3	-	2	578	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	TRPM3_uc004ahw.3_5'UTR|TRPM3_uc004ahx.3_5'UTR|TRPM3_uc004ahy.3_5'UTR|TRPM3_uc004ahz.3_5'UTR|TRPM3_uc004aia.3_5'UTR|TRPM3_uc004aib.3_5'UTR|TRPM3_uc004aic.3_Missense_Mutation_p.E112K|TRPM3_uc010mor.3_Missense_Mutation_p.E112K|TRPM3_uc004aie.3_5'UTR|TRPM3_uc004aif.3_5'UTR|TRPM3_uc004aig.3_5'UTR|TRPM3_uc004aii.3_Missense_Mutation_p.E114K	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	112						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGGCGACTTTCATTTTTCTCA	0.488000														104			30		0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031894	32031894	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:32031894C>T	uc011axg.2	+	1	1872	c.1323C>T	c.(1321-1323)ctC>ctT	p.L441L	ZNF860_uc021wuv.1_Silent_p.L441L	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						GTTCATATCTCGTAGTTCATT	0.378000														57			28		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157244	22157244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22157244C>T	uc021urr.1	-	3	741	c.592G>A	c.(592-594)Gag>Aag	p.E198K	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)				TAGGAATTCTCTCTAGTATAA	0.363000														58			28		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38840443	38840443	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:38840443G>A	uc021yzh.1	+	49	7231	c.7122G>A	c.(7120-7122)atG>atA	p.M2374I	DNAH8_uc003ooe.2_Missense_Mutation_p.M2157I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAATGCGAATGAATCCAAAAG	0.453000														73			27		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284537	52284537	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52284537C>T	uc001rzd.3	+	4	985	c.807C>T	c.(805-807)ctC>ctT	p.L269L	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Silent_p.L144L|ANKRD33_uc001rze.3_Silent_p.L165L|ANKRD33_uc001rzg.4_Silent_p.L71L|ANKRD33_uc001rzi.4_Silent_p.L144L	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	144										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TGTCCGGGCTCGTggcccagg	0.677000														18			6		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33003898	33003898	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:33003898G>A	uc001rlj.4	-	4	1295	c.1180C>T	c.(1180-1182)Ctt>Ttt	p.L394F	PKP2_uc001rlk.4_Missense_Mutation_p.L394F|PKP2_uc010skj.2_Missense_Mutation_p.L394F	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	394					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATGCCACGAAGCTGGTTAACC	0.408000														54			24		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45281402	45281402	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45281402G>A	uc002ozs.3	+	0	277	c.214G>A	c.(214-216)Ggt>Agt	p.G72S	CBLC_uc010ejt.3_Missense_Mutation_p.G72S	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	72	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				cggccccgggggtcccggcgg	0.726000			M		AML									6			8		0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155761161	155761161	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:155761161G>A	uc003qqm.3	-	5	700	c.597C>T	c.(595-597)tcC>tcT	p.S199S		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	199	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	p.A198D(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ACAACTCATAGGAGGCCTGTC	0.507000														38			27		0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70375179	70375179	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:70375179C>T	uc004dzd.2	+	4	1027	c.693C>T	c.(691-693)atC>atT	p.I231I	NLGN3_uc004dzb.3_Silent_p.I211I|NLGN3_uc011mps.2_Silent_p.I191I|NLGN3_uc004dzc.3_Silent_p.I94I|NLGN3_uc004dze.3_Silent_p.I29I|NLGN3_uc011mpr.1_Silent_p.I191I	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	231					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GCAATGTCATCGTCATCACCC	0.542000														30			36		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231109737	231109737	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:231109737C>T	uc002vql.3	+	5	721	c.606C>T	c.(604-606)ctC>ctT	p.L202L	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Silent_p.L202L|SP140_uc002vqn.3_Silent_p.L202L|SP140_uc002vqm.3_Silent_p.L202L|SP140_uc010fxl.3_Silent_p.L202L	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	202					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGTTAGCTCTCCCAAAGGCTG	0.458000														66			21		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31901501	31901501	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31901501C>T	uc011dor.2	+	2	635	c.371C>T	c.(370-372)tCt>tTt	p.S124F	CFB_uc003nyc.2_Missense_Mutation_p.L18F|CFB_uc011doo.2_Missense_Mutation_p.L18F|CFB_uc011dop.2_Missense_Mutation_p.S63F|CFB_uc003nye.4_Missense_Mutation_p.S186F|CFB_uc003nyf.3_Missense_Mutation_p.S186F|CFB_uc010jtk.3_Missense_Mutation_p.S54F|CFB_uc011doq.2_Missense_Mutation_p.S157F	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	200	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTCACGGGGTCTTCGGAGCGG	0.637000														59			20		0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78084546	78084546	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:78084546C>T	uc002jxp.3	+	9	1825	c.1458C>T	c.(1456-1458)gcC>gcT	p.A486A	GAA_uc002jxo.3_Silent_p.A486A|GAA_uc002jxq.3_Silent_p.A486A	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	486					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GGTCCACTGCCTTCCCCGACT	0.647000														78			6		0	0	1	0	0
SLC35E4	339665	broad.mit.edu	37	22	31042716	31042716	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:31042716G>A	uc003ais.1	+	1	1396	c.751G>A	c.(751-753)Gac>Aac	p.D251N	SLC35E4_uc003ait.3_Intron	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA.	251	Leu-rich.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CACTGCTGGCGACTCTCGCCT	0.667000														30			8		0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186944231	186944231	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:186944231C>T	uc003frh.2	-	11	1909	c.1519G>A	c.(1519-1521)Gac>Aac	p.D507N		NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	507	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CTGAGCAAGTCTGAATCACGT	0.572000														12			3		0	0	1	0	0
CLDN1	9076	broad.mit.edu	37	3	190039867	190039867	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:190039867G>A	uc003fsh.3	-	0	369	c.129C>T	c.(127-129)gcC>gcT	p.A43A		NM_021101	NP_066924	O95832	CLD1_HUMAN	Homo sapiens claudin 1 (CLDN1), mRNA.	43					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		ACATGGCCTGGGCGGTCACGA	0.592000														91			25		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201012658	201012658	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:201012658C>T	uc001gvv.3	-	40	5025	c.4798_splice	c.e40-1	p.R1600_splice		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1600					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCCTCCAGTCCTCTAGGGGCA	0.577000											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			12		0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100348964	100348964	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:100348964G>A	uc003huv.2	-	4	807	c.566C>T	c.(565-567)tCc>tTc	p.S189F	ADH7_uc021xqj.1_Missense_Mutation_p.S197F	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	189					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	ATATCCAGTGGAAAACCCACA	0.408000														43			19		0	0	1	0	0
FBXL15	79176	broad.mit.edu	37	10	104182012	104182012	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104182012C>T	uc001kvl.1	+	3	1045	c.937C>T	c.(937-939)Ctc>Ttc	p.L313F	PSD_uc001kvh.1_5'Flank|PSD_uc009xxd.1_5'Flank|PSD_uc001kvi.1_5'Flank|FBXL15_uc001kvj.1_Missense_Mutation_p.L226F|FBXL15_uc001kvk.2_Missense_Mutation_p.L226F	NM_024326	NP_077302	Q9H469	FXL15_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 15 (FBXL15), mRNA.	226					G2/M transition of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|bone mineralization|dorsal/ventral pattern formation|positive regulation of BMP signaling pathway|protein ubiquitination	SCF ubiquitin ligase complex|cytoplasm	protein binding			kidney(1)	1		Colorectal(252;0.207)		Epithelial(162;1.19e-08)|all cancers(201;2.65e-07)		CCACCTTGACCTCACCGGCTG	0.672000														13			3		0	0	1	0	0
JSRP1	126306	broad.mit.edu	37	19	2252699	2252699	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:2252699C>T	uc002lvj.2	-	6	696	c.625G>A	c.(625-627)Gag>Aag	p.E209K		NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	Homo sapiens junctional sarcoplasmic reticulum protein 1 (JSRP1), mRNA.	209						sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				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)		TCGTCGTTCTCTGCAGCCTCC	0.706000														113			28		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20054963	20054963	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:20054963C>T	uc002wru.3	+	3	426	c.312C>T	c.(310-312)ttC>ttT	p.F104F	C20orf26_uc010gcw.2_Silent_p.F58F|C20orf26_uc010zse.2_Silent_p.F104F|C20orf26_uc010zsf.1_Silent_p.F104F	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	104										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)		ATACGTTGTTCATGCACCTCT	0.507000														109			40		0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65113244	65113244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:65113244C>T	uc001odm.3	+	6	878	c.745C>T	c.(745-747)Cct>Tct	p.P249S	DPF2_uc010roe.2_Intron	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	249					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						ACCACCCACTCCTGTTTCCCA	0.532000														43			18		0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111146191	111146191	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111146191G>A	uc021oro.1	-	0	1214	c.1214C>T	c.(1213-1215)cCg>cTg	p.P405L	KCNA2_uc009wfv.2_Intron|KCNA2_uc009wfw.3_Missense_Mutation_p.P405L	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	405						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)		GACAGGGACCGGTAAGGCAAT	0.488000														106			15		0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139136	3139136	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3139136G>A	uc002ctv.1	-	4	2222	c.2134C>T	c.(2134-2136)Ctg>Ttg	p.L712L	ZSCAN10_uc002cty.1_Silent_p.L373L|ZSCAN10_uc002ctw.1_Silent_p.L630L|ZSCAN10_uc002ctx.1_Silent_p.L640L	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	712					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TGGCGCAGCAGGTGGGAGTTG	0.711000														10			5		0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58260778	58260778	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:58260778G>A	uc002iyo.1	-	30	4157	c.3871C>T	c.(3871-3873)Cgg>Tgg	p.R1291W	USP32_uc002iyn.1_Missense_Mutation_p.R961W	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	1291					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TTTATCCACCGACCATTTACA	0.378000														80			35		0	0	1	0	0
CERK	64781	broad.mit.edu	37	22	47116007	47116007	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:47116007G>A	uc003bia.3	-	2	462	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L		NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	Homo sapiens ceramide kinase (CERK), mRNA.	119	Required for binding to sulfatide and phosphoinositides.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATCTCCCGCAGGGTCTGCAGC	0.572000														73			26		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57745893	57745893	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:57745893G>A	uc010bfw.3	+	7	2260	c.2067G>A	c.(2065-2067)gtG>gtA	p.V689V	CGNL1_uc002aeg.3_Silent_p.V689V	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	689						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TATTCCAGGTGAAGATGGAAC	0.517000														15			10		0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	78005818	78005818	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:78005818C>T	uc002ffg.1	+	7	1246	c.1149C>T	c.(1147-1149)acC>acT	p.T383T		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	383							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						TAGAAAAGACCCCAACTCCAC	0.532000											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		222			65		0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6472692	6472692	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6472692G>A	uc001qnw.3	-	1	1042	c.778C>T	c.(778-780)Cgt>Tgt	p.R260C	SCNN1A_uc001qnv.3_5'UTR|SCNN1A_uc001qnx.3_Missense_Mutation_p.R201C|SCNN1A_uc010sfb.2_Missense_Mutation_p.R224C	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	201					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CGGGCTCGACGGGCCCCGTGA	0.726000														21			12		0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50099460	50099460	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:50099460C>T	uc003cyc.3	+	14	2753	c.2505C>T	c.(2503-2505)ccC>ccT	p.P835P	RBM6_uc010hlc.2_Silent_p.P354P|RBM6_uc003cyd.3_Silent_p.P313P|RBM6_uc011bdi.2_Silent_p.P177P|RBM6_uc003cye.3_Silent_p.P313P|RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	835					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AAAAAAAACCCACCAGTCAAG	0.418000														63			19		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869693	36869693	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36869693G>A	uc002xhy.1	-	2	1112	c.840C>T	c.(838-840)ggC>ggT	p.G280G	KIAA1755_uc002xhz.1_Silent_p.G280G	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	280								p.L279I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTTGGGAAAAGCCTAGGAGAG	0.567000														97			44		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702748	30702748	+	Silent	SNP	C	T	T	rs112301482		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:30702748C>T	uc003xil.3	-	0	3786	c.3786G>A	c.(3784-3786)gcG>gcA	p.A1262A		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1262								p.A1262A(2)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CGTCAGTTTTCGCCTTTGTGT	0.313000														73			14		0	0	1	0	0
S100A12	6283	broad.mit.edu	37	1	153347053	153347053	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153347053C>T	uc001fbr.1	-	1	84	c.16G>A	c.(16-18)Gag>Aag	p.E6K		NM_005621	NP_005612	P80511	S10AC_HUMAN	Homo sapiens S100 calcium binding protein A12 (S100A12), mRNA.	6					defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	TCCAGATGCTCTTCAAGTTTT	0.483000														110			48		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87591451	87591451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:87591451C>T	uc003ydx.3	-	15	1859	c.1811G>A	c.(1810-1812)cGa>cAa	p.R604Q	CNGB3_uc010maj.3_Missense_Mutation_p.R461Q	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	604					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATTGGCAGTTCGACGGTTTCC	0.423000														183			49		0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99655367	99655367	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99655367C>T	uc003uso.3	+	2	590	c.446C>T	c.(445-447)tCc>tTc	p.S149F	ZSCAN21_uc003usn.1_Missense_Mutation_p.S148F	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	Homo sapiens zinc finger and SCAN domain containing 21 (ZSCAN21), mRNA.	149					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAGAAGATATCCTCCTCAGGA	0.517000														61			28		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236925843	236925843	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:236925843C>T	uc001hyf.2	+	20	2813	c.2609C>T	c.(2608-2610)tCg>tTg	p.S870L	ACTN2_uc001hyg.2_Missense_Mutation_p.S662L|ACTN2_uc009xgi.1_Missense_Mutation_p.S870L|ACTN2_uc010pxu.1_Missense_Mutation_p.S559L	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	870					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCCGCCTACTCGGGCCCAGGC	0.587000														55			11		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229771485	229771485	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:229771485C>T	uc001hts.1	+	3	1261	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	URB2_uc009xfd.1_Silent_p.I375I	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	375						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCTACAACATCGCTGCCGACA	0.522000														49			25		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89941791	89941791	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:89941791G>A	uc003kju.3	+	15	3001	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	969	Calx-beta 7.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAGATTCCAGAAGAAATGGA	0.323000														32			9		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369669	56369669	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56369669G>A	uc002qmd.4	+	2	1332	c.910G>A	c.(910-912)Gag>Aag	p.E304K	NLRP4_uc002qmf.3_Missense_Mutation_p.E229K|NLRP4_uc010etf.3_Missense_Mutation_p.E135K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	304	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGGATTCAACGAGAGTGATAG	0.507000														63			25		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76728481	76728481	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:76728481G>A	uc003pik.1	-	6	891	c.761C>T	c.(760-762)tCc>tTc	p.S254F		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	254	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGGGGACTGGGAGTCAGCGAG	0.537000														78			9		0	0	1	0	0
FOXB2	442425	broad.mit.edu	37	9	79635164	79635164	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:79635164C>T	uc004ako.1	+	0	594	c.594C>T	c.(592-594)ccC>ccT	p.P198P		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	Homo sapiens forkhead box B2 (FOXB2), mRNA.	198					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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			breast(1)|lung(8)|ovary(1)	10						CGTCACAGCCCCCGCAGCAAC	0.766000														17			10		0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45211365	45211365	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:45211365G>A	uc010xxd.2	+	5	1379	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	391										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TGTTGGTGCAGAAGCTGAACC	0.632000														10			10		0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37462938	37462938	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37462938C>T	uc003aqt.1	-	17	2306	c.2244G>A	c.(2242-2244)gaG>gaA	p.E748E	TMPRSS6_uc003aqs.1_Silent_p.E735E	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	735	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGCGATAGACCTCGCTGCACA	0.607000														29			16		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060071	54060071	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:54060071G>A	uc001cvr.1	-	2	1072	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	169					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TGAGACAGGGGATAGGGGGGC	0.687000														15			12		0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105199034	105199034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:105199034G>A	uc001tla.3	-	9	1785	c.1618C>T	c.(1618-1620)Ccc>Tcc	p.P540S		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	Homo sapiens solute carrier family 41, member 2 (SLC41A2), mRNA.	540						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						GTTAGGTAGGGGATGGAGAAA	0.463000														256			29		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12947771	12947771	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:12947771G>A	uc003wwm.2	-	14	4508	c.4064C>T	c.(4063-4065)tCc>tTc	p.S1355F	DLC1_uc003wwk.1_Missense_Mutation_p.S918F|DLC1_uc003wwl.1_Missense_Mutation_p.S952F|DLC1_uc011kxx.1_Missense_Mutation_p.S844F	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1355	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTTCTTATAGGACAGCTCAGC	0.493000														63			18		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94053657	94053657	+	Missense_Mutation	SNP	G	A	A	rs72658200		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94053657G>A	uc003ung.1	+	40	3046	c.2575G>A	c.(2575-2577)Ggc>Agc	p.G859S	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Non-coding_Transcript	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	859					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)	GGGACCTCCTGGCACTCCAGG	0.493000										HNSCC(75;0.22)				71			23		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17446124	17446125	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17446124_17446125CC>AT	uc002zlw.3	-	6	1430_1431	c.1322_1323GG>AT	c.(1321-1323)agg>aAT	p.R441N		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	441										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CATTGATGACCCTGTTGTTTCT	0.554000														37			10		0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115806300	115806300	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:115806300T>C	uc011lwz.1	-	3	671	c.643A>G	c.(643-645)Agg>Ggg	p.R215G	ZFP37_uc004bgm.1_Missense_Mutation_p.R200G|ZFP37_uc011lxa.1_Missense_Mutation_p.R201G	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	200						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S215I(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCAGATTTCCTTTTTACACAG	0.328000														96			51		0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724857	49724857	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:49724857C>T	uc009zlh.3	+	12	2396	c.2229C>T	c.(2227-2229)ctC>ctT	p.L743L	TROAP_uc001rtx.4_Intron	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	0					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GCCTGGCTCTCCCTCAGGAAG	0.607000														9			3		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539443	55539443	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:55539443G>A	uc003xsd.1	+	3	3149	c.3001G>A	c.(3001-3003)Gaa>Aaa	p.E1001K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1001					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGACACTGGTGAAGAAGATCT	0.383000														189			61		0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127944882	127944882	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:127944882C>T	uc002tod.2	-	7	1215	c.1084G>A	c.(1084-1086)Ggg>Agg	p.G362R	CYP27C1_uc021vnn.1_Missense_Mutation_p.G362R	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	362						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		TGGATGGGCCCCCCTGGCGTC	0.473000														60			33		0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31256287	31256287	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:31256287C>T	uc001rjt.1	+	24	2740	c.2489C>T	c.(2488-2490)tCt>tTt	p.S830F	DDX11_uc001rjr.1_Silent_p.L832L|DDX11_uc001rjs.1_Silent_p.L782L|DDX11_uc001rju.1_Silent_p.L504L|DDX11_uc001rjv.1_Missense_Mutation_p.S830F|DDX11_uc001rjw.1_Silent_p.L806L|DDX11_uc009zjn.1_Intron|DDX11_uc009zjo.1_Intron	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	830					G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AGGGAAGGCTCTGGTGGAGAA	0.637000										Multiple Myeloma(12;0.14)				18			8		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21481174	21481174	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:21481174G>A	uc002kuq.3	+	47	6174	c.6088G>A	c.(6088-6090)Gaa>Aaa	p.E2030K	LAMA3_uc002kur.3_Missense_Mutation_p.E1974K|LAMA3_uc002kus.4_Missense_Mutation_p.E421K|LAMA3_uc002kut.4_Missense_Mutation_p.E365K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2030	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTTTAAATGAATACGAAGC	0.507000														49			23		0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048773	6048773	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6048773G>A	uc010qzw.2	-	0	199	c.162C>T	c.(160-162)atC>atT	p.I54I		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I54I(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGATGGTGATCAGGAGGG	0.612000														60			34		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5042876	5042876	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:5042876C>T	uc002gau.1	+	21	3635	c.1405C>T	c.(1405-1407)Ccc>Tcc	p.P469S	USP6_uc002gav.1_Missense_Mutation_p.P469S|USP6_uc010ckz.1_Missense_Mutation_p.P152S|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	469					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCCTTGGTTCCCCCATTATGA	0.612000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									28			24		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370697	240370697	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240370697C>T	uc010pye.2	+	5	2822	c.2597C>T	c.(2596-2598)cCt>cTt	p.P866L	FMN2_uc010pyd.2_Missense_Mutation_p.P862L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	862	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCACCTCTGCCTTGCACAGAG	0.572000														127			29		0	0	1	0	0
PTK6	5753	broad.mit.edu	37	20	62165016	62165016	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62165016C>T	uc002yfg.3	-	3	598	c.558G>A	c.(556-558)agG>agA	p.R186R	PTK6_uc011aay.2_Silent_p.R85R|PTK6_uc011aaz.1_5'Flank	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	186						cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			CCTCCCTCGGCCTCTCCCAGT	0.632000														85			42		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167060583	167060583	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:167060583C>T	uc010fpl.3	-	25	4964	c.4623G>A	c.(4621-4623)gtG>gtA	p.V1541V	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1552						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTATAAAAACCACATTTATCC	0.353000														57			5		0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4827818	4827818	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:4827818C>T	uc002cxq.3	-	9	1321	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N	SEPT12_uc002cxr.3_Missense_Mutation_p.D307N|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	353					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TCATCAGAATCGTCATGGGCC	0.662000														4			3		0	0	1	0	0
SERTAD2	9792	broad.mit.edu	37	2	64863228	64863228	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:64863228G>A	uc021viq.1	-	0	778	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S	SERTAD2_uc002sde.2_Missense_Mutation_p.P260S	NM_014755	NP_055570	Q14140	SRTD2_HUMAN	Homo sapiens SERTA domain containing 2 (SERTAD2), mRNA.	260					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GAAGTGCAGGGGTCAAAATCA	0.512000														53			22		0	0	1	0	0
FAM98A	25940	broad.mit.edu	37	2	33810711	33810711	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:33810711G>A	uc002rpa.1	-	6	848	c.774C>T	c.(772-774)tcC>tcT	p.S258S	FAM98A_uc010yne.1_Silent_p.S63S|FAM98A_uc010ynd.1_Silent_p.S89S|FAM98A_uc002roz.1_Silent_p.S96S	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	259										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TAGTTTTAGGGGATAAGACTG	0.398000														102			35		0	0	1	0	0
C11orf74	119710	broad.mit.edu	37	11	36654959	36654959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:36654959C>T	uc001mwy.1	+	2	335	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C	C11orf74_uc001mwx.1_Intron|C11orf74_uc001mwz.1_Intron|C11orf74_uc010rfe.1_Non-coding_Transcript|C11orf74_uc010rfd.2_Non-coding_Transcript	NM_138787	NP_620142	Q86VG3	CK074_HUMAN	Homo sapiens chromosome 11 open reading frame 74 (C11orf74), mRNA.	88										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				CATCTTTCTTCGTACTTCATC	0.308000														37			10		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24924372	24924372	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:24924372C>T	uc001ywo.3	+	0	3832	c.3358C>T	c.(3358-3360)Caa>Taa	p.Q1120*		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1120					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)		TCCTGCTTTTCAACAGTGCAT	0.468000														115			75		0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793740	17793740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17793740G>A	uc009yhc.1	+	1	1154	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	KCNC1_uc001mnk.4_Missense_Mutation_p.E367K	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	367						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTACTACGCCGAGAGGATAGG	0.607000														51			16		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960599	143960599	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:143960599C>T	uc010mey.3	-	2	386	c.379G>A	c.(379-381)Gac>Aac	p.D127N	CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Missense_Mutation_p.D82N|CYP11B1_uc003yxj.3_Missense_Mutation_p.D82N	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	82					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-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)				Mitotane(DB00648)	CCTCCCAAGTCGTACCTGTGG	0.637000									Familial Hyperaldosteronism type I					61			31		0	0	1	0	0
NEURL	9148	broad.mit.edu	37	10	105330779	105330779	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105330779G>A	uc001kxh.3	+	1	646	c.236G>A	c.(235-237)aGc>aAc	p.S79N	NEURL_uc021pxn.1_Missense_Mutation_p.S62N	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	79	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ATGGACCTCAGCCACAAGGCT	0.647000														120			17		0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237284	30237284	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:30237284G>A	uc022buf.1	+	0	587	c.587G>A	c.(586-588)tGg>tAg	p.W196*	MAGEB2_uc004dbz.3_Nonsense_Mutation_p.W196*	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	196	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CTCAGTTCCTGGGACTTTCCC	0.488000														13			3		0	0	1	0	0
DIRC2	84925	broad.mit.edu	37	3	122525735	122525735	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122525735C>T	uc003efw.4	+	1	514	c.375C>T	c.(373-375)ttC>ttT	p.F125F	DIRC2_uc010hrl.3_Non-coding_Transcript|DIRC2_uc010hrm.3_Intron	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	Homo sapiens disrupted in renal carcinoma 2 (DIRC2), mRNA.	125					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TGACATCCTTCCTTATGGTTT	0.333000														60			27		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034562	52034562	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52034562G>A	uc002pwy.3	-	1	487	c.279C>T	c.(277-279)ttC>ttT	p.F93F	SIGLEC6_uc002pwz.3_Silent_p.F93F|SIGLEC6_uc010ydb.2_Silent_p.F57F|SIGLEC6_uc010ydc.2_Silent_p.F93F|SIGLEC6_uc002pxa.3_Silent_p.F93F|SIGLEC6_uc010eoz.2_Silent_p.F93F|SIGLEC6_uc010epa.2_Silent_p.F82F|SIGLEC6_uc010epb.2_Silent_p.F46F	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	93	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGAGGAGGTGGAATCGGCCCC	0.552000														108			35		0	0	1	0	0
HERC2P4	440362	broad.mit.edu	37	16	32163510	32163510	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:32163510G>A	uc002ecx.3	-	1		c.261C>T								Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA.																		TGCCCTTCGGGGTGATGCCAG	0.547000														78			10		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114154743	114154743	+	Silent	SNP	G	A	A	rs138653304	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:114154743G>A	uc001kzu.3	+	1	319	c.207G>A	c.(205-207)ccG>ccA	p.P69P	ACSL5_uc001kzs.3_Silent_p.P13P|ACSL5_uc001kzt.3_Silent_p.P13P|ACSL5_uc009xxz.3_Silent_p.P13P	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	13					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CCCCACTTCCGACCCCGGCGT	0.428000														143			64		0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87482336	87482336	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:87482336G>A	uc004aoa.1	+	14	2513	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	NTRK2_uc004any.1_Silent_p.K525K|NTRK2_uc004anz.1_Silent_p.K541K|NTRK2_uc011lsz.2_Silent_p.K541K|NTRK2_uc011lta.2_Silent_p.K525K|NTRK2_uc004aoc.3_Silent_p.K76K	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	525					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GTCAGCTCAAGCCAGACACAT	0.463000										TSP Lung(25;0.17)				157			41		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839329	62839329	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62839329G>A	uc002yii.3	+	6	1144	c.780G>A	c.(778-780)gaG>gaA	p.E260E	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	260	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACgaagaggaggacgaggagg	0.592000														9			5		0	0	1	0	0
TCP10	6953	broad.mit.edu	37	6	167786700	167786700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:167786700C>T	uc003qvv.1	-	7	1150	c.938G>A	c.(937-939)gGa>gAa	p.G313E	TCP10_uc003qvu.3_Intron	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	340						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GTGCAGAGCTCCTGGAAATTC	0.527000														92			12		0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114386804	114386804	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:114386804G>A	uc009zwi.2	-	9	1254	c.1110C>T	c.(1108-1110)gtC>gtT	p.V370V	RBM19_uc001tvn.4_Silent_p.V370V|RBM19_uc001tvm.3_Silent_p.V370V|TRNA_Pseudo_uc021rec.1_5'Flank	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	370					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGGTGGTGGGGACGTTCTTTT	0.587000														168			21		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39872801	39872801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39872801C>T	uc010lwy.1	+	10	1185	c.943C>T	c.(943-945)Cct>Tct	p.P315S	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Missense_Mutation_p.P56S|IDO2_uc003xnp.1_Missense_Mutation_p.P56S	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	302					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TTACATGCCTCCTTCCCATAA	0.463000														58			25		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10550730	10550730	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10550730C>T	uc002gmq.2	-	8	837	c.749G>A	c.(748-750)cGa>cAa	p.R250Q		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	250	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.R250Q(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AAAATGGATTCGGATGAACTT	0.483000														32			23		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553608	140553608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140553608G>A	uc003lit.3	+	0	1366	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	398	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E398K(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCATCTGTCGAAAACTTCTA	0.493000														53			36		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27157868	27157868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:27157868C>T	uc011lno.2	+	1	534	c.92C>T	c.(91-93)tCc>tTc	p.S31F	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.S31F|TEK_uc003zqi.4_Missense_Mutation_p.S31F|TEK_uc011lnp.2_Intron|TEK_uc003zqj.1_Missense_Mutation_p.S8F	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	31					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTGATCAATTCCCTACCTCTT	0.458000														168			78		0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31540725	31540725	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31540725C>T	uc011dnu.1	+	2	333	c.120C>T	c.(118-120)ctC>ctT	p.L40L	LTA_uc003nue.1_Silent_p.L40L|LTA_uc003nuf.3_Non-coding_Transcript|LTA_uc003nuh.3_5'UTR|LTA_uc003nug.3_5'UTR|LTA_uc010jsr.3_Non-coding_Transcript|TNF_uc003nui.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	40					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	GTGTTGGCCTCACACCTTCAG	0.607000														51			5		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551856	99551856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:99551856G>A	uc010nmz.3	-	5	4542	c.2866C>T	c.(2866-2868)Cat>Tat	p.H956Y	PCDH19_uc004efw.4_Missense_Mutation_p.H908Y|PCDH19_uc004efx.4_Missense_Mutation_p.H909Y	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	956					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H956Y(2)|p.H409Y(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCCCGGCAATGAAATCCTTCA	0.473000														23			30		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37325588	37325588	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:37325588G>A	uc001caz.2	-	5	952	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	GRIK3_uc001cba.1_Missense_Mutation_p.R273C	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	273					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R273L(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCTGAGTAGCGGTAGGGCTCC	0.572000														73			17		0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20585753	20585753	+	Missense_Mutation	SNP	C	T	T	rs150087607		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20585753C>T	uc001vwo.1	+	0	188	c.188C>T	c.(187-189)tCg>tTg	p.S63L		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GCCCTCTTCTCGGTTATCTAT	0.408000														288			102		0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158139206	158139206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:158139206G>A	uc010jip.3	-	13	1807	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	EBF1_uc011ddw.2_Missense_Mutation_p.S370F|EBF1_uc011ddx.2_Missense_Mutation_p.S503F|EBF1_uc003lxl.4_Missense_Mutation_p.S471F	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	502	Pro/Ser/Thr-rich.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAGGTGGGGGAGCCGCCCAA	0.567000			T	HMGA2	lipoma									27			4		0	0	1	0	0
FITM1	161247	broad.mit.edu	37	14	24601911	24601911	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24601911C>T	uc001wmf.2	+	1	856	c.758C>T	c.(757-759)gCc>gTc	p.A253V		NM_203402	NP_981947	A5D6W6	FITM1_HUMAN	Homo sapiens fat storage-inducing transmembrane protein 1 (FITM1), mRNA.	253					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane		p.G252D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GTGGTGGGCGCCGCAGTGGGC	0.602000														68			30		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937111	21937111	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:21937111C>T	uc010tzj.1	-	0		c.3629G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		ATCTGTGCTTCATCCATGCAG	0.448000														214			43		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74635414	74635414	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74635414G>A	uc002axt.2	-	4	1049	c.894C>T	c.(892-894)taC>taT	p.Y298Y	CYP11A1_uc002axs.2_Silent_p.Y140Y|CYP11A1_uc010bjm.1_Silent_p.Y140Y|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Intron|CYP11A1_uc010ulj.1_Silent_p.Y78Y	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	298					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GGATGCCACGGTAATCGTGGT	0.512000														82			81		0	0	1	0	0
PYGO1	26108	broad.mit.edu	37	15	55838615	55838615	+	Missense_Mutation	SNP	G	A	A	rs79362849		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:55838615G>A	uc002adf.1	-	2	866	c.866C>T	c.(865-867)tCa>tTa	p.S289L	PYGO1_uc010bfl.1_Missense_Mutation_p.S289L	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.	289	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		AGTGCTACTTGAACGGCTGTT	0.423000														347			69		0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166987	180166987	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:180166987C>T	uc003mmf.1	-	0	72	c.72G>A	c.(70-72)gaG>gaA	p.E24E		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGGATGGGCTCCAGTTGCG	0.473000														32			11		0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43913099	43913099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:43913099C>T	uc002zbg.3	-	1	250	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA.	49					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TTACCGAATTCGTAGCTCCCT	0.502000														252			58		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190194	209190194	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:209190194C>T	uc002vcz.3	+	19	2817	c.2659C>T	c.(2659-2661)Cct>Tct	p.P887S	PIKFYVE_uc010fun.1_Missense_Mutation_p.P568S|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P831S	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	887					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AATGCAAAACCCTTCATTCCA	0.468000														90			34		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10648094	10648094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:10648094C>T	uc010rcc.1	-	8	1173	c.787G>A	c.(787-789)Gac>Aac	p.D263N	MRVI1_uc010rcb.1_Missense_Mutation_p.D255N|MRVI1_uc001miw.2_Missense_Mutation_p.D254N|MRVI1_uc001mix.3_5'UTR|MRVI1_uc001miz.2_Missense_Mutation_p.D172N|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	236					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCCTCTGGTCATTCTGCTTC	0.532000														21			8		0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89261523	89261523	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89261523C>T	uc002fmt.3	+	13	2482	c.2405C>T	c.(2404-2406)cCt>cTt	p.P802L		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	802					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGTCTTTCTCCTGGGGCACTG	0.687000														21			16		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26849116	26849116	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:26849116G>A	uc001iss.3	+	11	1559	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E		NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	413	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		p.G413A(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TGGGTCATGGGAATACGGATA	0.498000														93			20		0	0	1	0	0
PABPC1P2	728773	broad.mit.edu	37	2	147345549	147345549	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:147345549G>A	uc002twf.4	+	0	925	c.9G>A	c.(7-9)ggG>ggA	p.G3G						Homo sapiens poly(A) binding protein, cytoplasmic 1 pseudogene 2 (PABPC1P2), non-coding RNA.																		AAATGGATGGGATGCTCCTGA	0.438000														10			7		0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3119069	3119069	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3119069G>A	uc002ctq.3	+	5	513	c.418G>A	c.(418-420)Gat>Aat	p.D140N	IL32_uc002ctn.3_Missense_Mutation_p.D94N|IL32_uc002ctk.3_Missense_Mutation_p.D94N|IL32_uc002cto.3_Missense_Mutation_p.D140N|IL32_uc010uwp.2_Missense_Mutation_p.D74N|IL32_uc010btb.3_Missense_Mutation_p.D84N|IL32_uc002ctl.3_Missense_Mutation_p.D94N|IL32_uc002ctm.3_Missense_Mutation_p.D94N|IL32_uc002ctp.3_Missense_Mutation_p.D74N|IL32_uc002ctr.3_Missense_Mutation_p.D74N|IL32_uc002ctt.3_Missense_Mutation_p.D94N|IL32_uc010uwr.2_Missense_Mutation_p.D54N|IL32_uc002ctu.3_Missense_Mutation_p.D85N|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	140					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GGATGTTGAGGATCCCGCAAC	0.567000														15			8		0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39170381	39170381	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:39170381C>T	uc003cjc.2	+	13	2052	c.1875C>T	c.(1873-1875)atC>atT	p.I625I	TTC21A_uc011ayx.1_Silent_p.I577I|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	625							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGGCATCCATCTTATTGGAAC	0.552000														68			31		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26242165	26242165	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26242165G>A	uc003abz.1	+	18	3717	c.3467G>A	c.(3466-3468)aGg>aAg	p.R1156K	MYO18B_uc003aca.1_Missense_Mutation_p.R1037K|MYO18B_uc010guy.1_Missense_Mutation_p.R1038K|MYO18B_uc010guz.1_Missense_Mutation_p.R1037K|MYO18B_uc011aka.1_Missense_Mutation_p.R310K|MYO18B_uc011akb.1_Missense_Mutation_p.R669K	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1156	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						GCCCTGCAGAGGAGCCGCATG	0.667000														26			15		0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51133180	51133180	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51133180C>T	uc002pst.3	-	2	1557	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	SYT3_uc002psv.3_Missense_Mutation_p.R308Q|SYT3_uc010ycd.2_Missense_Mutation_p.R308Q	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	308	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.R308Q(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		ATAGAGGTACCGCAGGGCGAA	0.672000														105			8		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55501474	55501474	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55501474C>T	uc021vbq.1	+	8	2562	c.2451C>T	c.(2449-2451)aaC>aaT	p.N817N	NLRP2_uc010yfp.2_Silent_p.N794N|NLRP2_uc002qij.3_Silent_p.N817N|NLRP2_uc010esp.3_Silent_p.N795N|NLRP2_uc010esn.3_Silent_p.N793N|NLRP2_uc010eso.3_Silent_p.N814N	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	817					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CGTGCGTAAACCTCTCCGACA	0.522000														79			35		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85399823	85399823	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:85399823G>A	uc002ble.3	+	5	2627	c.2460G>A	c.(2458-2460)gtG>gtA	p.V820V		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	820					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)			AGATACAAGTGGATGGAAGGA	0.522000														78			16		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72345460	72345460	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:72345460G>A	uc002jkm.4	+	9	1323	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q	KIF19_uc002jkj.2_Silent_p.Q395Q|KIF19_uc002jkk.2_Silent_p.Q353Q|KIF19_uc002jkl.2_Silent_p.Q353Q	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	395					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GGGGCCGGCAGGATCGGGGTG	0.662000														17			12		0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87448052	87448052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:87448052G>A	uc002fjz.1	-	9	1187	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Missense_Mutation_p.P163L	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	387					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CGACTGCACGGGCCCGACGTG	0.672000														43			13		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494140	55494140	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55494140C>T	uc021vbq.1	+	5	1185	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	NLRP2_uc010yfp.2_Silent_p.G335G|NLRP2_uc002qij.3_Silent_p.G358G|NLRP2_uc010esp.3_Silent_p.G336G|NLRP2_uc010esn.3_Silent_p.G334G|NLRP2_uc010eso.3_Silent_p.G355G	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	358	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGGTGGAGGGCTTCCTGGAGG	0.622000														35			4		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206166306	206166306	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:206166306G>A	uc002var.2	+	17	2718	c.2511G>A	c.(2509-2511)acG>acA	p.T837T	PARD3B_uc010fub.2_Silent_p.T837T|PARD3B_uc002vao.2_Silent_p.T837T|PARD3B_uc002vap.2_Silent_p.T775T|PARD3B_uc002vaq.2_Silent_p.T768T	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	837	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCAAAAAAACgaaagagaagg	0.433000														42			26		0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143827007	143827007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143827007G>A	uc011kua.2	+	0	802	c.802G>A	c.(802-804)Gag>Aag	p.E268K		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCATCCTGAGGAGCAGCAGAA	0.542000														173			65		0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31682918	31682918	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31682918C>T	uc010zue.2	+	9	1372	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	453						cytoplasm|extracellular region	lipid binding										TGAAGAGCTTCCTCCACTTAC	0.488000														143			60		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32927476	32927476	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:32927476G>A	uc003cff.3	+	2	1134	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	357					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGATGAAGGCGAAGGTTGTGC	0.552000														57			31		0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38266165	38266165	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38266165C>T	uc003chy.3	+	7	1148	c.806C>T	c.(805-807)tCa>tTa	p.S269L	OXSR1_uc010hhb.3_Missense_Mutation_p.S203L|OXSR1_uc010hha.1_Missense_Mutation_p.S201L	NM_005109	NP_005100	O95747	OXSR1_HUMAN	Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.	269	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAAATGATTTCATTGTGCCTT	0.313000														40			13		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967191	41967191	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:41967191C>T	uc010skn.2	+	9	2618	c.2610C>T	c.(2608-2610)ctC>ctT	p.L870L	PDZRN4_uc001rmq.4_Silent_p.L612L|PDZRN4_uc009zjz.3_Silent_p.L610L|PDZRN4_uc001rmr.3_Silent_p.L497L	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	870							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGAGTCAGCTCAGCTTGGTGA	0.468000														95			49		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6939120	6939120	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6939120G>A	uc001qra.1	+	2	627	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	GPR162_uc001qrb.1_Missense_Mutation_p.R6Q|GPR162_uc001qqy.1_Missense_Mutation_p.R134Q	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						AAGTACAGACGAATGTCGGGA	0.592000														101			15		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599804	29599804	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:29599804G>A	uc001usl.4	+	0	1057	c.999G>A	c.(997-999)gaG>gaA	p.E333E		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	323						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTGAACAGGAGGGAAAGGCAG	0.532000														37			13		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47511092	47511092	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:47511092G>A	uc002leb.2	-	7	1230	c.942C>T	c.(940-942)ctC>ctT	p.L314L	MYO5B_uc021ukb.1_Silent_p.L313L	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	314	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCTTACCGAGGAGTGTGAAGG	0.552000														62			23		0	0	1	0	0
KIAA1609	57707	broad.mit.edu	37	16	84520383	84520383	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84520383G>A	uc002fib.3	-	4	919	c.812C>T	c.(811-813)tCg>tTg	p.S271L	KIAA1609_uc010vod.2_Missense_Mutation_p.S244L	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	Homo sapiens KIAA1609 (KIAA1609), mRNA.	271	TLD.						protein binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2)	18						GAGCTCAGACGAAAAGAGCAG	0.597000														37			18		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40594355	40594355	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40594355C>T	uc001zld.3	-	5	789	c.488G>A	c.(487-489)gGg>gAg	p.G163E	PLCB2_uc010bbo.3_Missense_Mutation_p.G163E|PLCB2_uc010ucm.2_Missense_Mutation_p.G163E|PLCB2_uc001zle.4_Missense_Mutation_p.G163E	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	163					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CGGAATCTTCCCTTCAGAGTT	0.612000														216			16		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122377072	122377072	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:122377072G>A	uc022akp.1	-	1	812	c.390C>T	c.(388-390)ctC>ctT	p.L130L	CADPS2_uc022akq.1_Silent_p.L130L|CADPS2_uc010lkq.3_Silent_p.L130L|CADPS2_uc022akr.1_Silent_p.L130L	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	130					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTTCCCCATTGAGGAAGGCCT	0.398000														29			17		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631943	32631943	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:32631943G>A	uc003zrg.1	-	0	3725	c.3635C>T	c.(3634-3636)gCc>gTc	p.A1212V	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.	1212					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)		GCGCACATAGGCATCAATGAC	0.448000														94			61		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420437	55420437	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:55420437C>T	uc001sgp.4	+	1	592	c.214C>T	c.(214-216)Ccc>Tcc	p.P72S	NEUROD4_uc021qyr.1_Missense_Mutation_p.P72S	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	72					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G71C(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GAGAAGGGGTCCCAAGAAAAA	0.483000														39			10		0	0	1	0	0
ZNF439	90594	broad.mit.edu	37	19	11978185	11978185	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11978185C>T	uc002mss.3	+	2	429	c.301C>T	c.(301-303)Cca>Tca	p.P101S	ZNF439_uc002msr.3_5'UTR	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	Homo sapiens zinc finger protein 439 (ZNF439), mRNA.	101	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AACTTTTACCCCAGTTCCAGA	0.388000														219			16		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7701593	7701593	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:7701593C>T	uc002giu.1	+	52	8363	c.8349C>T	c.(8347-8349)acC>acT	p.T2783T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2783	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACTACACCACCTTCCAGATCG	0.542000														33			30		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833388	168833388	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:168833388G>A	uc011bpj.1	-	7	2675	c.2272C>T	c.(2272-2274)Ccc>Tcc	p.P758S	MECOM_uc010hwk.1_Missense_Mutation_p.P593S|MECOM_uc003ffj.3_Missense_Mutation_p.P635S|MECOM_uc003ffi.3_Missense_Mutation_p.P570S|MECOM_uc011bpi.1_Missense_Mutation_p.P571S|MECOM_uc003ffn.3_Missense_Mutation_p.P570S|MECOM_uc003ffk.2_Missense_Mutation_p.P570S|MECOM_uc003ffl.2_Missense_Mutation_p.P730S|MECOM_uc011bpk.1_Missense_Mutation_p.P570S|MECOM_uc010hwn.2_Missense_Mutation_p.P758S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGCTTGGAGGGGACTGGAGTC	0.547000														54			14		0	0	1	0	0
SLC24A5	283652	broad.mit.edu	37	15	48431226	48431226	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:48431226C>A	uc001zwe.3	+	6	1005	c.932C>A	c.(931-933)tCc>tAc	p.S311Y	SLC24A5_uc010bel.3_Missense_Mutation_p.S251Y|AK021664_uc001zwf.1_5'Flank|SLC24A5_uc001zwk.3_5'Flank	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	Homo sapiens solute carrier family 24, member 5 (SLC24A5), mRNA.	311					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TGGGTATTATCCCTTCCTATT	0.318000														71			29		2.4375e-19	2.45045e-19	1	1	0
NEB	4703	broad.mit.edu	37	2	152544005	152544005	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152544005C>T	uc021vrb.1	-	24	2594	c.2565G>A	c.(2563-2565)atG>atA	p.M855I	NEB_uc002txu.3_Missense_Mutation_p.M855I|NEB_uc021vrc.1_Missense_Mutation_p.M855I|NEB_uc010fnx.3_Missense_Mutation_p.M855I|NEB_uc021vrd.1_Missense_Mutation_p.M855I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	855					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGCTCCAATCATTTTCCCTT	0.458000														173			19		0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78379475	78379475	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:78379475G>A	uc003kft.3	+	6	865	c.806G>A	c.(805-807)aGa>aAa	p.R269K	BHMT2_uc011cth.2_Missense_Mutation_p.R205K	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA.	269	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GTTGCCACCAGATGGGATATT	0.458000														54			16		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134385	128134385	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:128134385G>A	uc011ebt.2	-	3	1550	c.1401C>T	c.(1399-1401)tcC>tcT	p.S467S	THEMIS_uc010kfa.3_Silent_p.S370S|THEMIS_uc021zfa.1_Silent_p.S467S|THEMIS_uc010kfb.3_Silent_p.S432S	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	467	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CCTCTTCAATGGAAAGATCCC	0.473000														35			32		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97167502	97167502	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:97167502C>T	uc010how.1	+	6	1865	c.1822C>T	c.(1822-1824)Cac>Tac	p.H608Y	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.4_5'UTR|EPHA6_uc003drr.4_5'UTR|EPHA6_uc003drt.3_5'UTR|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	513						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						ATATGTATTTCACATCCGAGT	0.443000														100			13		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50103168	50103168	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50103168C>T	uc002poo.4	+	4	4318	c.4318C>T	c.(4318-4320)Ccc>Tcc	p.P1440S		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	619							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TCCGGGGCTCCCCAGTGCCAA	0.612000														33			7		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24460566	24460566	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:24460566C>T	uc003ned.1	-	11	1060	c.949G>A	c.(949-951)Gac>Aac	p.D317N	GPLD1_uc010jpr.1_Missense_Mutation_p.D154N|GPLD1_uc010jps.1_Missense_Mutation_p.D317N	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	317						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						ATATTCCTGTCAACACTTTCA	0.373000														184			18		0	0	1	0	0
USP41	373856	broad.mit.edu	37	22	20729877	20729877	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:20729877G>A	uc011ahq.1	-	1	147	c.81C>T	c.(79-81)ttC>ttT	p.F27F	USP41_uc011ahp.1_5'Flank					RecName: Full=Putative ubiquitin carboxyl-terminal hydrolase 41;          EC=3.4.19.12; AltName: Full=Deubiquitinating enzyme 41; AltName: Full=Ubiquitin thiolesterase 41; AltName: Full=Ubiquitin-specific-processing protease 41;											endometrium(1)|kidney(1)|lung(2)|skin(1)	5						GAAGCATCTGGAAAGGGACGC	0.572000														22			4		0	0	1	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39477000	39477000	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:39477000G>A	uc021wpr.1	+	2	527	c.234G>A	c.(232-234)agG>agA	p.R78R	APOBEC3F_uc003awx.3_Silent_p.R78R|APOBEC3F_uc003awy.3_Silent_p.R11R	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	78					DNA cytosine deamination|base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	RNA binding|cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GCAAGTGGAGGAAGCTGCATC	0.552000														40			23		0	0	1	0	0
BRS3	680	broad.mit.edu	37	X	135574322	135574322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:135574322C>T	uc004ezv.1	+	2	1137	c.988C>T	c.(988-990)Ctc>Ttc	p.L330F		NM_001727	NP_001718	P32247	BRS3_HUMAN	Homo sapiens bombesin-like receptor 3 (BRS3), mRNA.	330					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CCCCTTTGCTCTCTACTGGCT	0.478000														73			106		0	0	1	0	0
CLDN18	51208	broad.mit.edu	37	3	137717743	137717743	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:137717743C>T	uc003ero.1	+	0	86	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	11					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCTTGGGGTTCGTGGTTTCAC	0.557000														78			28		0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101206358	101206358	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:101206358G>A	uc003yjh.2	+	9	1044	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	SPAG1_uc003yjg.1_Missense_Mutation_p.E320K|SPAG1_uc003yji.2_Missense_Mutation_p.E320K	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	320					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GTCAGAGGTTGAAAGAGATCT	0.313000														52			11		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139193282	139193282	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:139193282G>A	uc003leu.1	+	2	965	c.760G>A	c.(760-762)Ggc>Agc	p.G254S		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	254					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)			TGGCCCTCAGGGCCCAGGGGG	0.622000														20			9		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1092112	1092112	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1092112G>A	uc001lsx.1	+	29	3958	c.3931G>A	c.(3931-3933)Gag>Aag	p.E1311K		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1311						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGGATCAATGAGGACCACCC	0.592000														17			10		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679051	100679051	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100679051G>A	uc003uxp.1	+	2	4407	c.4354G>A	c.(4354-4356)Gaa>Aaa	p.E1452K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1452	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTAGTGAAGGAAAGAC	0.493000														454			98		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142572322	142572322	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142572322G>A	uc003wbx.2	-	10	1603	c.1374C>T	c.(1372-1374)ctC>ctT	p.L458L	TRPV6_uc003wbw.1_Silent_p.L244L|TRPV6_uc010lou.1_Silent_p.L329L	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	458					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGCCCAGCACGAGTGCAAAGG	0.592000														44			22		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48372493	48372493	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48372493G>A	uc001rqu.3	-	41	2963	c.2782C>T	c.(2782-2784)Ccc>Tcc	p.P928S	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P859S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	928	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GCACCTTTGGGACCATCTTTT	0.627000														40			12		0	0	1	0	0
TBX6	6911	broad.mit.edu	37	16	30100386	30100386	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30100386G>A	uc010veh.2	-	3	559	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	BOLA2_uc010bzb.1_Intron|TBX6_uc002dwk.1_Missense_Mutation_p.R167C	NM_004608	NP_004599	O95947	TBX6_HUMAN	Homo sapiens T-box 6 (TBX6), mRNA.	167					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						TCAGGCAGGCGGGGCTCTGCC	0.632000														85			9		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175365684	175365684	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175365684G>A	uc001gkp.1	-	2	1317	c.1236C>T	c.(1234-1236)gcC>gcT	p.A412A	TNR_uc009wwu.1_Silent_p.A412A|TNR_uc010pmz.1_3'UTR	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	412	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)					ACGTACGGGTGGCCACCTTGG	0.502000														60			23		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47390600	47390600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:47390600C>T	uc002leb.2	-	27	4042	c.3754G>A	c.(3754-3756)Gag>Aag	p.E1252K	MYO5B_uc002lea.2_Missense_Mutation_p.E393K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1252					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.H1251H(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCGAGCTCCTCGTGGGCCAGC	0.637000														81			21		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32065044	32065044	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32065044G>A	uc003nzl.2	-	2	788	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	196	EGF-like 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGGACACAGCGACCCTGATCA	0.667000														15			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085580	9085580	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9085580C>T	uc002mkp.3	-	0	6439	c.6235G>A	c.(6235-6237)Ggg>Agg	p.G2079R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2079	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G2079W(3)|p.S2078A(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						TTTGAAACCCCAGAATGGCCT	0.473000														113			54		0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9783763	9783763	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:9783763C>T	uc002gmd.1	+	10	1214	c.1214C>T	c.(1213-1215)aCt>aTt	p.T405I		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	405					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TCTTTCATCACTGATGATCAA	0.383000														93			64		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6702214	6702214	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6702214C>T	uc002mfm.3	-	18	2426	c.2364G>A	c.(2362-2364)acG>acA	p.T788T		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	788					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.T788T(2)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCATGAGCTTCGTAGAGATTC	0.512000														60			14		0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230798890	230798890	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:230798890C>T	uc001htw.3	+	3	455	c.304C>T	c.(304-306)Ctt>Ttt	p.L102F	COG2_uc001htx.3_Missense_Mutation_p.L102F|COG2_uc010pwc.2_5'UTR	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	102					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTTAAAGAGCCTTAGATCGTC	0.318000														64			9		0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094037	46094037	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46094037C>T	uc002pcm.3	-	1	2033	c.1088G>A	c.(1087-1089)tGa>tAa	p.*363*	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Splice_Site_p.*363_splice	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	0						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACTCGGGGTTCATTGTGCTGG	0.577000														46			22		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197036339	197036339	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197036339G>A	uc001gtt.1	-	0	59	c.15C>T	c.(13-15)aaC>aaT	p.N5N		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	5					blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAAAAGTCAGGTTTTTCAACC	0.308000														39			15		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896986	175896986	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:175896986G>A	uc003iuc.3	+	4	980	c.310G>A	c.(310-312)Ggt>Agt	p.G104S	ADAM29_uc003iud.3_Missense_Mutation_p.G104S|ADAM29_uc010irr.3_Missense_Mutation_p.G104S|ADAM29_uc011cki.2_Missense_Mutation_p.G104S|ADAM29_uc021xuo.1_Missense_Mutation_p.G104S	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	104					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTACTATCATGGTTATGTGGA	0.438000														51			21		0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	110222987	110222987	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:110222987G>A	uc021xqo.1	-	0	245	c.189C>T	c.(187-189)atC>atT	p.I63I	COL25A1_uc003hze.1_Silent_p.I63I|COL25A1_uc021xqp.1_Silent_p.I63I|COL25A1_uc003hzg.3_Silent_p.I63I|COL25A1_uc003hzh.1_Silent_p.I63I	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	63						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CGAGAGCGGCGATCCTCGCCT	0.607000														149			11		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101839977	101839977	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:101839977C>T	uc003uys.4	+	14	1446	c.1319C>T	c.(1318-1320)cCc>cTc	p.P440L	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.P429L	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	429					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G439V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TTGCCGGCCCCCCCTCCTTCT	0.567000														87			34		0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10291286	10291286	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:10291286C>T	uc011atr.2	+	1	983	c.402C>T	c.(400-402)gcC>gcT	p.A134A	TATDN2_uc003bvg.2_Silent_p.A134A|TATDN2_uc003bvf.3_Silent_p.A134A|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	134						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AGGAGGAAGCCTGCAGCCTTA	0.562000														52			13		0	0	1	0	0
PMVK	10654	broad.mit.edu	37	1	154898850	154898850	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154898850C>T	uc001ffq.3	-	3	745	c.422G>A	c.(421-423)cGg>cAg	p.R141Q		NM_006556	NP_006547	Q15126	PMVK_HUMAN	Homo sapiens phosphomevalonate kinase (PMVK), mRNA.	141					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CACCCAGCCCCGCTGCTGTCG	0.632000														34			17		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175137	143175137	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143175137C>T	uc003wdc.1	+	0	172	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	58					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCGCTTCTGCCTGCAGTTGGT	0.567000														104			22		0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46310067	46310067	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:46310067C>T	uc002zgd.2	-	10	1527	c.1483G>A	c.(1483-1485)Gga>Aga	p.G495R	ITGB2_uc002zgf.3_Missense_Mutation_p.G495R|ITGB2_uc011afl.1_Missense_Mutation_p.G417R|ITGB2_uc010gpw.2_Missense_Mutation_p.G438R|ITGB2_uc002zgg.2_Missense_Mutation_p.G495R	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	495	Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CGGCAGCTTCCTTCCAGCTCC	0.632000														25			12		0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6309800	6309800	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6309800G>A	uc002mel.2	-	3	474	c.396C>T	c.(394-396)acC>acT	p.T132T		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	132						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						AGGACAGAAGGGTGCTGACCA	0.597000														59			13		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72992967	72992967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:72992967G>A	uc002fck.3	-	1	1751	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	360					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTGTGTCCGGGGCCTATGAGG	0.522000														78			50		0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169663602	169663602	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:169663602G>A	uc011bpp.2	-	1		c.4201C>T								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		AGAGGGGAAAGACCACTCTTC	0.423000														16			5		0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21331581	21331581	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21331581G>A	uc001req.4	+	5	657	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	185					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TGGAATAGGGGAGACTCCCAT	0.348000														114			37		0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31774775	31774775	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:31774775C>T	uc021wuu.1	-	5	1740	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	OSBPL10_uc003ceu.1_Missense_Mutation_p.E114K|OSBPL10_uc011axf.2_Missense_Mutation_p.E293K	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	357					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GAGGTTTGTTCGTCTTCAGCA	0.453000														118			26		0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516120	138516120	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:138516120G>A	uc010nbd.1	-	4	908	c.654C>T	c.(652-654)atC>atT	p.I218I		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	218					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		GTCCAAACGGGATGCAAGCTG	0.493000														100			18		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40979312	40979312	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:40979312G>A	uc002xkg.3	-	10	2005	c.1821C>T	c.(1819-1821)atC>atT	p.I607I	PTPRT_uc010ggj.3_Silent_p.I607I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	607	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCATCACTGTGATGGTCGTGT	0.532000														105			44		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127668645	127668645	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:127668645C>T	uc003kuu.3	-	31	4620	c.4181G>A	c.(4180-4182)aGc>aAc	p.S1394N	FBN2_uc003kuv.2_Missense_Mutation_p.S1361N	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1394	EGF-like 22; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTCTCTGCAGCTACACTTGAA	0.398000														192			50		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875780	247875780	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247875780G>A	uc001idj.1	-	0	278	c.278C>T	c.(277-279)tCa>tTa	p.S93L		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCTTGTAAATGATATGGTCTG	0.483000														86			18		0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28617391	28617391	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:28617391G>A	uc002dqn.3	-	9	1626	c.1034C>T	c.(1033-1035)cCc>cTc	p.P345L	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.P254L|SULT1A1_uc002dqi.3_Missense_Mutation_p.P254L|SULT1A1_uc002dqk.3_Missense_Mutation_p.P254L|SULT1A1_uc002dql.3_Missense_Mutation_p.P254L|SULT1A1_uc002dqm.3_Missense_Mutation_p.P176L|SULT1A1_uc002dqp.3_Missense_Mutation_p.P254L	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	254					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						CCTCATGAAGGGGGAGATGCT	0.607000														199			47		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72071175	72071175	+	Silent	SNP	G	A	A	rs112803189		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:72071175G>A	uc004ahh.2	-	7	2052	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	592	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.F592F(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CCTCAGACTCGAAGACGTGGC	0.522000														157			44		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995641	140995641	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140995641C>T	uc004fbt.3	+	3	2775	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.F476F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	817							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)					TGAGCTCCTTCCCCTCCTCCA	0.557000										HNSCC(15;0.026)				125			85		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545613	234545613	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234545613C>T	uc002vur.3	+	0	491	c.445C>T	c.(445-447)Cct>Tct	p.P149S	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.P149S	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	152					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GTTTCTGGATCCTTTTGATAC	0.383000														144			72		0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096880	73096880	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:73096880C>T	uc002jmr.3	+	4	1494	c.1122C>T	c.(1120-1122)ggC>ggT	p.G374G	SLC16A5_uc002jmt.3_Silent_p.G374G|SLC16A5_uc002jmu.3_Silent_p.G374G|SLC16A5_uc010wrt.2_Silent_p.G414G	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	374					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TCCTGGACGGCCTTGCTTTCC	0.592000														11			11		0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	99999541	99999541	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99999541C>T	uc003uut.3	-	16	1843	c.1595G>A	c.(1594-1596)gGc>gAc	p.G532D	ZCWPW1_uc011kjq.2_Missense_Mutation_p.G412D|ZCWPW1_uc003uur.3_Intron|ZCWPW1_uc003uus.3_Intron|ZCWPW1_uc011kjr.2_Intron|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	532							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATTCCCTTGGCCTTCTTTCCT	0.527000														93			38		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513335	99513335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:99513335G>A	uc003dti.1	+	2	721	c.593G>A	c.(592-594)gGa>gAa	p.G198E	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G197E|COL8A1_uc003dth.1_Missense_Mutation_p.G197E	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	197	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGACCACAAGGACCTCCAGGG	0.587000														46			18		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25543330	25543330	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:25543330G>A	uc002kwg.2	-	14	2964	c.2505C>T	c.(2503-2505)ttC>ttT	p.F835F	CDH2_uc010xbn.1_Silent_p.F804F	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	835					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCTCATTAATGAAGTCCCCAA	0.488000														29			9		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53012265	53012266	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53012265_53012266CC>TT	uc001sas.3	-	0	78_79	c.43_44GG>AA	c.(43-45)ggg>AAg	p.G15K		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	15	Gly-rich.|Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTGAAGCCCCCCTTGGCAGCA	0.614000														80			21		0	0	1	0	0
IL2RA	3559	broad.mit.edu	37	10	6063514	6063514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:6063514C>T	uc001iiz.2	-	3	729	c.510G>A	c.(508-510)atG>atA	p.M170I	IL2RA_uc009xih.2_Intron|IL2RA_uc001ija.1_Intron	NM_000417	NP_000408	P01589	IL2RA_HUMAN	Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	170	Sushi 2.				cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCCCGTGGGTCATTTTGCAGA	0.537000														144			54		0	0	1	0	0
AVEN	57099	broad.mit.edu	37	15	34159851	34159851	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:34159851G>A	uc001zhj.3	-	4	874	c.818C>T	c.(817-819)tCc>tTc	p.S273F		NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	Homo sapiens apoptosis, caspase activation inhibitor (AVEN), mRNA.	273					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		CTGCAGTGGGGAAGTGGGTTT	0.488000														93			57		0	0	1	0	0
KIAA0317	9870	broad.mit.edu	37	14	75136738	75136738	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75136738G>A	uc001xqb.3	-	13	2205	c.1700C>T	c.(1699-1701)tCt>tTt	p.S567F	KIAA0317_uc010tut.1_Missense_Mutation_p.S406F	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	567	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		TCCTCCTAGAGAGGACTCATA	0.542000														113			9		0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133428221	133428221	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:133428221C>G	uc001ulf.2	-	11	1595	c.1511G>C	c.(1510-1512)cGt>cCt	p.R504P	CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001uld.2_Missense_Mutation_p.R463P|CHFR_uc001ule.2_Missense_Mutation_p.R492P|CHFR_uc010tbs.1_Missense_Mutation_p.R503P|CHFR_uc010tbt.1_Missense_Mutation_p.R412P	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	Homo sapiens checkpoint with forkhead and ring finger domains (CHFR), transcript variant 1, mRNA.	504					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		AGGGGCGACACGCGGGTCCTG	0.657000														93			58		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127615	152127615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152127615C>T	uc001ezs.1	-	2	2025	c.1960G>A	c.(1960-1962)Gat>Aat	p.D654N		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	654	Gln-rich.					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						TGTTGGCTATCCTCTTCAGGC	0.507000														89			26		0	0	1	0	0
PNKP	11284	broad.mit.edu	37	19	50370385	50370385	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50370385G>A	uc002pqj.3	-	1	187	c.77C>T	c.(76-78)tCg>tTg	p.S26L	PNKP_uc002pqg.3_5'Flank|PNKP_uc002pqi.3_5'UTR|PNKP_uc021uxx.1_Missense_Mutation_p.S26L	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA.	26					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TTGCCCGTCCGAGGGCAGGAA	0.726000								Other BER factors						51			13		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301421	11301421	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:11301421C>T	uc010hdr.3	+	1	1040	c.698C>T	c.(697-699)tCc>tTc	p.S233F	HRH1_uc010hds.3_Missense_Mutation_p.S233F|HRH1_uc010hdt.3_Missense_Mutation_p.S233F|HRH1_uc003bwb.4_Missense_Mutation_p.S233F|HRH1_uc021wtb.1_Missense_Mutation_p.S233F	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	233					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	p.S233S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCCCTCCCTTCCTTCTCAGAA	0.532000														62			10		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716551	13716551	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:13716551C>T	uc001rbt.2	-	12	3800	c.3621G>A	c.(3619-3621)gaG>gaA	p.E1207E		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1207					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGGACCGGTCCTCCCACTCCA	0.637000														75			30		0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242757862	242757862	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242757862G>A	uc002wcp.2	+	3	1476	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	NEU4_uc010fzr.3_Missense_Mutation_p.E315K|NEU4_uc002wcm.3_Missense_Mutation_p.E315K|NEU4_uc002wco.2_Missense_Mutation_p.E315K|NEU4_uc002wcn.2_Missense_Mutation_p.E327K	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	315	Pro-rich.					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TGGAGTCCACGAACCCCCAGA	0.716000														21			3		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522956	23522956	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:23522956G>A	uc003jgo.3	+	7	1026	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	282	SET.				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						CCGAATTACAGAAGACGAAGA	0.552000										HNSCC(3;0.000094)				104			30		0	0	1	0	0
SAMD8	142891	broad.mit.edu	37	10	76910586	76910586	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:76910586C>T	uc001jwx.2	+	1	403	c.300C>T	c.(298-300)ttC>ttT	p.F100F	SAMD8_uc001jwy.2_Silent_p.F100F	NM_001174156	NP_001167627	Q96LT4	SAMD8_HUMAN	Homo sapiens sterile alpha motif domain containing 8 (SAMD8), transcript variant 1, mRNA.	100					sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGACCCCTTTCATCAGTGCTC	0.448000														86			32		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43749110	43749110	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43749110G>A	uc001zrs.3	-	11	1829	c.1681C>T	c.(1681-1683)Cct>Tct	p.P561S	TP53BP1_uc010udp.2_Missense_Mutation_p.P561S|TP53BP1_uc001zrq.4_Missense_Mutation_p.P566S|TP53BP1_uc001zrr.4_Missense_Mutation_p.P566S|TP53BP1_uc010udq.1_Missense_Mutation_p.P566S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	561					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTTTCAGCAGGAACAAATTTA	0.413000								Other conserved DNA damage response genes						103			8		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111540084	111540084	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:111540084G>A	uc003kpv.1	-	14	1638	c.1364C>T	c.(1363-1365)cCt>cTt	p.P455L	EPB41L4A_uc003kpp.1_Missense_Mutation_p.P82L	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	455						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)		CCTCCTCACAGGCTGTACAGA	0.483000														131			57		0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112070448	112070448	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:112070448C>T	uc001pnf.3	+	5	880	c.763C>T	c.(763-765)Cct>Tct	p.P255S	BCO2_uc001pne.1_Missense_Mutation_p.P82S|BCO2_uc001png.3_Missense_Mutation_p.P182S|BCO2_uc001pnh.3_Missense_Mutation_p.P221S|BCO2_uc010rwt.2_Missense_Mutation_p.P150S|BCO2_uc009yyn.3_Missense_Mutation_p.P221S|BCO2_uc001pni.3_Missense_Mutation_p.P221S	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	255					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TATTCGGGTTCCTCCAGAGAA	0.403000														104			42		0	0	1	0	0
GPR56	9289	broad.mit.edu	37	16	57685473	57685473	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:57685473C>T	uc002emb.2	+	3	718	c.426C>T	c.(424-426)tcC>tcT	p.S142S	GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Silent_p.S142S|GPR56_uc002emf.2_Silent_p.S142S|GPR56_uc010vhs.1_Silent_p.S142S|GPR56_uc002emd.2_Silent_p.S142S|GPR56_uc002eme.2_Silent_p.S142S|GPR56_uc010vht.1_Silent_p.S147S|GPR56_uc002emg.3_Silent_p.S142S|GPR56_uc010vhu.1_5'UTR	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.	142					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CTGTCACCTCCTGGTGGAGCC	0.602000														49			8		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698454	96698454	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96698454G>A	uc001kka.4	+	0	40	c.15G>A	c.(13-15)gtG>gtA	p.V5V	CYP2C9_uc009xut.3_Silent_p.V5V|CYP2C9_uc001kjz.3_Silent_p.V5V	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	5					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	ATTCTCTTGTGGTCCTTGTGC	0.493000														239			94		0	0	1	0	0
PTBP2	58155	broad.mit.edu	37	1	97236339	97236339	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:97236339C>T	uc001drq.3	+	4	610	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	PTBP2_uc001drn.2_Missense_Mutation_p.R122C|PTBP2_uc001dro.2_Missense_Mutation_p.R122C|PTBP2_uc010otz.1_Missense_Mutation_p.R133C|PTBP2_uc001drp.2_Non-coding_Transcript|PTBP2_uc009wdw.2_Missense_Mutation_p.R70C|PTBP2_uc001drr.3_Missense_Mutation_p.R122C|PTBP2_uc001dru.3_Non-coding_Transcript|PTBP2_uc001drm.2_Missense_Mutation_p.R122C	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	Homo sapiens polypyrimidine tract binding protein 2 (PTBP2), mRNA.	122	RRM 1.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		ACCTCATCTTCGTAACCAACC	0.338000														115			20		0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29080214	29080214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29080214G>A	uc011dll.2	+	0	547	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTTTTTCTGTGAAGTTCCAGC	0.463000														92			35		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22697996	22697996	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22697996G>A	uc021wml.1	+	40		c.4541G>A								Parts of antibodies, mostly variable regions.																		GGCCTGAATCGGTACCTGACC	0.567000											OREG0026357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			4		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101592065	101592065	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:101592065G>A	uc002bwr.3	+	23	3908	c.3589G>A	c.(3589-3591)Gcc>Acc	p.A1197T	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_5'Flank	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1197					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTCCTGACGGCCATCGAGCG	0.637000														68			7		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3729188	3729188	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:3729188G>A	uc002kmf.3	-	6	2065	c.1538C>T	c.(1537-1539)tCg>tTg	p.S513L	DLGAP1_uc010wyz.2_Missense_Mutation_p.S513L|DLGAP1_uc010dkn.3_Missense_Mutation_p.S211L|DLGAP1_uc002kme.2_Missense_Mutation_p.S211L|DLGAP1_uc010wyw.2_Missense_Mutation_p.S219L|DLGAP1_uc010wyx.2_Missense_Mutation_p.S225L|DLGAP1_uc010wyy.2_Missense_Mutation_p.S225L|DLGAP1_uc002kmg.3_Missense_Mutation_p.S211L|DLGAP1_uc002kmk.2_Missense_Mutation_p.S513L	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	513					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGGCGAGGACGACCTCAGGGA	0.682000														42			12		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268686	1268686	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1268686G>A	uc001lta.3	+	30	10635	c.10576G>A	c.(10576-10578)Ggg>Agg	p.G3526R		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3526	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCTTCTCCAGGGACGACCAC	0.687000														101			25		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375047	113375047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:113375047G>A	uc003eam.3	-	6	5893	c.5482C>T	c.(5482-5484)Ctc>Ttc	p.L1828F	KIAA2018_uc003eal.3_Missense_Mutation_p.L1772F	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1828					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGATCACTGAGGTGAGGGGCA	0.473000														167			47		0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181538	128181538	+	Missense_Mutation	SNP	G	A	A	rs140414363		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:128181538G>A	uc003ekk.1	-	2	2212	c.551C>T	c.(550-552)tCg>tTg	p.S184L	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.S184L	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	184					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CTCGGTGGACGACATCACCGA	0.622000														70			37		0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20235891	20235891	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:20235891C>T	uc021url.1	+	2		c.315C>T						Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.							Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						TGCAAGTCTTCGGACGCAAGA	0.627000														17			8		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1271213	1271213	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:1271213G>A	uc002qwq.3	+	13	1283	c.1154G>A	c.(1153-1155)aGg>aAg	p.R385K	SNTG2_uc010ewi.3_Missense_Mutation_p.R258K	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	385	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding	p.R385S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GAGGACCAGAGGCCCTATTGC	0.512000														20			11		0	0	1	0	0
STARD4	134429	broad.mit.edu	37	5	110835726	110835726	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:110835726G>A	uc003kph.1	-	5	560	c.476C>T	c.(475-477)cCa>cTa	p.P159L	STARD4_uc010jbw.1_Missense_Mutation_p.P61L|STARD4_uc010jbx.1_Missense_Mutation_p.P61L|STARD4_uc003kpi.1_Non-coding_Transcript	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.	159	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		GTCTTTAAGTGGAACACAAAA	0.413000														79			34		0	0	1	0	0
ANAPC16	119504	broad.mit.edu	37	10	73983730	73983730	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:73983730G>T	uc001jsw.3	+	2	550	c.58G>T	c.(58-60)Gga>Tga	p.G20*	ANAPC16_uc021psn.1_Non-coding_Transcript|ANAPC16_uc001jsv.3_Nonsense_Mutation_p.G20*|ANAPC16_uc021psp.1_Nonsense_Mutation_p.G20*|ANAPC16_uc021psq.1_Intron|ANAPC16_uc021psr.1_Intron|ANAPC16_uc021pss.1_Nonsense_Mutation_p.G20*	NM_001242546	NP_001229475	Q96DE5	APC16_HUMAN	Homo sapiens anaphase promoting complex subunit 16 (ANAPC16), transcript variant 1, mRNA.	20	Ser-rich.				cell division|mitosis|protein ubiquitination	anaphase-promoting complex|cytoplasm				large_intestine(1)|ovary(1)	2						TTCTGTCACTGGATCTGGTTT	0.493000														122			51		1.17673e-23	1.18348e-23	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2595295	2595295	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2595295C>T	uc009zdu.1	+	5	1096	c.783C>T	c.(781-783)atC>atT	p.I261I	CACNA1C_uc001qkc.2_Silent_p.I261I|CACNA1C_uc001qjz.2_Silent_p.I261I|CACNA1C_uc001qkd.2_Silent_p.I261I|CACNA1C_uc001qke.2_Silent_p.I261I|CACNA1C_uc001qkf.2_Silent_p.I261I|CACNA1C_uc009zdw.1_Silent_p.I261I|CACNA1C_uc001qkg.2_Silent_p.I261I|CACNA1C_uc001qkh.2_Silent_p.I261I|CACNA1C_uc001qkl.2_Silent_p.I261I|CACNA1C_uc001qkj.2_Silent_p.I261I|CACNA1C_uc001qkk.2_Silent_p.I261I|CACNA1C_uc001qkn.2_Silent_p.I261I|CACNA1C_uc001qkm.2_Silent_p.I261I|CACNA1C_uc001qko.2_Silent_p.I261I|CACNA1C_uc001qkp.2_Silent_p.I261I|CACNA1C_uc001qkq.2_Silent_p.I261I|CACNA1C_uc001qku.2_Silent_p.I261I|CACNA1C_uc001qkr.2_Silent_p.I261I|CACNA1C_uc001qks.2_Silent_p.I261I|CACNA1C_uc001qkt.2_Silent_p.I261I|CACNA1C_uc009zdv.1_Silent_p.I261I|CACNA1C_uc001qkb.2_Silent_p.I261I|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	261					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGAATTCCATCATCAAGGCCA	0.562000														24			4		0	0	1	0	0
TIAL1	7073	broad.mit.edu	37	10	121337200	121337200	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:121337200G>A	uc001lei.1	-	7	1169	c.605C>T	c.(604-606)cCa>cTa	p.P202L	TIAL1_uc001leh.1_Missense_Mutation_p.P180L|TIAL1_uc001lej.1_Missense_Mutation_p.P219L|TIAL1_uc001lek.1_Missense_Mutation_p.P79L|TIAL1_uc010qtb.1_Missense_Mutation_p.P79L	NM_003252	NP_003243	Q01085	TIAR_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein-like 1 (TIAL1), transcript variant 1, mRNA.	202					apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		ACAATTTTTTGGACTTGACTG	0.368000														144			59		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1221818	1221818	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1221818G>A	uc003jbw.4	+	11	1760	c.1704G>A	c.(1702-1704)gaG>gaA	p.E568E		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	568					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTCCCCAGGAGGAATTTCCCA	0.592000														49			13		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	70987031	70987031	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:70987031G>A	uc001jpf.4	+	1	265	c.132G>A	c.(130-132)cgG>cgA	p.R44R		NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	44					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGCGGTTCCGGGCTGAGATGG	0.597000														79			36		0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639219	97639219	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:97639219G>A	uc001vmx.1	-	3	1039	c.795C>T	c.(793-795)atC>atT	p.I265I	OXGR1_uc010afr.1_Silent_p.I265I|OXGR1_uc021rlr.1_Silent_p.I265I	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) receptor 1 (OXGR1), mRNA.	265						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			GGCGAGATTCGATCCGAATGA	0.433000														69			20		0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35084718	35084718	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:35084718C>T	uc001ziu.1	-	3	750	c.507G>A	c.(505-507)gaG>gaA	p.E169E	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	169					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AAGCGTAGCCCTCATAGATGG	0.532000														86			11		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64427844	64427844	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64427844C>T	uc021qkw.1	-	10	2811	c.2349G>A	c.(2347-2349)ctG>ctA	p.L783L	NRXN2_uc021qkx.1_Silent_p.L752L|NRXN2_uc001oas.3_Silent_p.L752L|NRXN2_uc001oaq.3_Silent_p.L450L	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	783	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CATCCAGCTCCAGGCGTAGGG	0.617000														72			9		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672268	186672268	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:186672268G>A	uc002upl.3	+	16	18502	c.18502G>A	c.(18502-18504)Gaa>Aaa	p.E6168K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGATGATGATGAAATTATTCA	0.323000														92			96		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74287400	74287400	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74287400G>A	uc002jrd.1	-	3	3090	c.2910C>T	c.(2908-2910)gcC>gcT	p.A970A	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	970							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTCGGTCCGAGGCTCGTGTTC	0.522000														42			23		0	0	1	0	0
SNCB	6620	broad.mit.edu	37	5	176056599	176056599	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176056599C>T	uc010jke.1	-	0	451	c.57G>A	c.(55-57)gcG>gcA	p.A19A	SNCB_uc021yij.1_Silent_p.A19A|SNCB_uc003mep.3_Silent_p.A19A|SNCB_uc003meq.3_Silent_p.A19A|SNCB_uc021yig.1_Silent_p.A19A|SNCB_uc021yih.1_Silent_p.A19A|SNCB_uc021yii.1_Silent_p.A19A|MIR4281_uc021yik.1_5'Flank|EIF4E1B_uc010jkf.1_5'Flank			Q16143	SYUB_HUMAN	Homo sapiens synuclein, beta (SNCB), transcript variant 1, mRNA.	19							calcium ion binding|phospholipase inhibitor activity	p.A19T(1)		breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTTTTCTCCGCGGCTGCCA	0.672000														29			11		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322479	55322479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55322479G>A	uc010rig.2	+	0	697	c.697G>A	c.(697-699)Gac>Aac	p.D233N		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTTTATGTGTGACTTGTACCC	0.458000										HNSCC(20;0.049)				40			10		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81929530	81929530	+	Silent	SNP	G	A	A	rs149315555	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:81929530G>A	uc002fgt.3	+	12	1369	c.1191G>A	c.(1189-1191)tcG>tcA	p.S397S	PLCG2_uc010chg.1_Silent_p.S397S	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	397	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTGTTACCTCGAGGTCAGTTG	0.542000														67			56		0	0	1	0	0
TRIM8	81603	broad.mit.edu	37	10	104404680	104404680	+	Silent	SNP	C	T	T	rs11550359		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:104404680C>T	uc001kvz.2	+	0	429	c.306C>T	c.(304-306)ccC>ccT	p.P102P		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.	102						PML body|cytoplasm	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCCCGCTGCCCGCGCAGAAGG	0.711000														10			4		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60074101	60074101	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:60074101G>A	uc001xen.1	-	3	2084	c.1875C>T	c.(1873-1875)gcC>gcT	p.A625A	RTN1_uc001xem.1_Silent_p.A205A|RTN1_uc001xek.2_Silent_p.A57A|RTN1_uc010apl.2_Silent_p.A42A	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	625	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGGCCAGGTAGGCCACGACGC	0.557000														53			5		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15296161	15296162	+	Nonsense_Mutation	DNP	GG	AA	AA	rs140040122	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15296161_15296162GG>AA	uc002nan.3	-	13	2278_2279	c.2202_2203CC>TT	c.(2200-2205)gcccga>gcTTga	p.R735*	NOTCH3_uc002nao.1_Nonsense_Mutation_p.R735*	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	735	EGF-like 19.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.A734A(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGGCGTCTCGGGCCAGGCTCT	0.678000														20			8		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085731	92085731	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92085731G>A	uc001pdj.4	+	0	470	c.453G>A	c.(451-453)atG>atA	p.M151I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	151	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTTAGATATGAATGATCTGA	0.403000										TCGA Ovarian(4;0.039)				46			25		0	0	1	0	0
LCE1A	353131	broad.mit.edu	37	1	152800190	152800190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152800190G>A	uc010pdw.2	+	0	242	c.242G>A	c.(241-243)aGa>aAa	p.R81K		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	Homo sapiens late cornified envelope 1A (LCE1A), mRNA.	81	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCGTCACAGACTCCAGAGC	0.697000														42			19		0	0	1	0	0
GRK4	2868	broad.mit.edu	37	4	3040238	3040238	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:3040238G>A	uc003ggn.1	+	14	2136	c.1681G>A	c.(1681-1683)Ggg>Agg	p.G561R	GRK4_uc003ggo.1_Intron|GRK4_uc003ggp.1_Missense_Mutation_p.G529R|GRK4_uc003ggq.1_Intron	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	561						cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTCAGAAGAGGGGTAAAAAG	0.373000														84			19		0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110882722	110882722	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110882722A>G	uc001dzl.1	+	0	778	c.695A>G	c.(694-696)aAg>aGg	p.K232R	RBM15_uc001dzm.1_Missense_Mutation_p.K232R|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Missense_Mutation_p.K232R	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	232	RRM 1.				interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGGGCGGCCAAGCATGCCAGA	0.597000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73			31		0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13896295	13896295	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:13896295G>A	uc003bye.1	-	2	609	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	102					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	p.S101C(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GCAGCCTCCCGGCTCCCTGCG	0.627000														53			11		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519925	69519925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:69519925G>A	uc021xow.1	-	4	1301	c.1143C>T	c.(1141-1143)atC>atT	p.I381I		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	381					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TCGCCTCATAGATGCCATTGG	0.413000														224			62		0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52897398	52897398	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:52897398G>A	uc010ugf.2	-	5	2547	c.2413C>T	c.(2413-2415)Cat>Tat	p.H805Y	FAM214A_uc002acg.4_Missense_Mutation_p.H798Y|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Missense_Mutation_p.H710Y	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	798																	TCCAAGGAATGAAAATTATGT	0.333000														134			52		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186545280	186545280	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:186545280G>A	uc003iyg.3	-	12	1665	c.1633C>T	c.(1633-1635)Cgc>Tgc	p.R545C	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.R531C|SORBS2_uc003iyl.3_Missense_Mutation_p.R431C|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.R335C|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	431						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R431C(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CCGTTACTGCGAACCTCCGGG	0.592000														56			22		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378071	55378071	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55378071C>T	uc002qhl.4	+	8	1316	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	KIR3DL2_uc002qho.4_Missense_Mutation_p.P418L|KIR3DL2_uc010esh.3_Missense_Mutation_p.P401L			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	418					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TCTCAGAGGCCCAAGACACCC	0.522000														393			34		0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	136030732	136030732	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:136030732C>T	uc010nab.3	-	5	510	c.229G>A	c.(229-231)Ggg>Agg	p.G77R	RALGDS_uc011mcw.2_Intron|RALGDS_uc011mcx.2_Intron|RALGDS_uc004ccw.3_Intron|RALGDS_uc010nac.1_Intron|RALGDS_uc004ccy.1_Intron			Q12967	GNDS_HUMAN	Homo sapiens globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (GBGT1), mRNA.	0					Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CACTGAGACCCTCCCCTGTGA	0.637000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									18			5		0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21929377	21929377	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:21929377C>T	uc001bev.3	-	16	1731	c.1713G>A	c.(1711-1713)acG>acA	p.T571T	RAP1GAP_uc001bew.3_Silent_p.T550T|RAP1GAP_uc001bey.3_Silent_p.T512T|RAP1GAP_uc001bex.3_Silent_p.T486T	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	486					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		ACTTCTTCCTCGTGGGGCTCT	0.647000														47			4		0	0	1	0	0
ZNF174	7727	broad.mit.edu	37	16	3454458	3454458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:3454458C>T	uc002cvc.3	+	1	1250	c.435C>T	c.(433-435)ctC>ctT	p.L145L	ZNF174_uc002cva.2_Silent_p.L145L|ZNF174_uc002cvb.3_Silent_p.L145L	NM_003450	NP_003441	Q15697	ZN174_HUMAN	Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.	145					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						AAAAGGTGCTCTTGGAGAAAA	0.512000														107			58		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149502729	149502729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149502729C>T	uc003lro.3	-	14	2528	c.2059G>A	c.(2059-2061)Gga>Aga	p.G687R	PDGFRB_uc010jhd.3_Missense_Mutation_p.G526R	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	687	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCAGGTCTCCGTAGCGGCAG	0.607000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									56			21		0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31159911	31159911	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31159911G>A	uc002ebd.3	-	4	417	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	PRSS36_uc010vff.2_5'UTR|PRSS36_uc010vfg.2_Missense_Mutation_p.R120C|PRSS36_uc010vfh.2_Missense_Mutation_p.R120C	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	120	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GCCACTGCGCGGGTGTGCGCG	0.751000														34			16		0	0	1	0	0
MFAP3L	9848	broad.mit.edu	37	4	170912824	170912825	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:170912824_170912825GG>AA	uc003isp.4	-	2	1112_1113	c.934_935CC>TT	c.(934-936)cct>TTt	p.P312F	MFAP3L_uc003isn.4_Missense_Mutation_p.P209F|MFAP3L_uc021xuj.1_Missense_Mutation_p.P209F	NM_021647	NP_001009554	O75121	MFA3L_HUMAN	Homo sapiens microfibrillar-associated protein 3-like (MFAP3L), transcript variant 1, mRNA.	312						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		AATTTGCTGAGGTTGCTCGTGC	0.554000														48			5		0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628475	71628475	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:71628475C>T	uc004agy.3	-	0	565	c.534G>A	c.(532-534)caG>caA	p.Q178Q		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	178	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCAGGTAGCCCTGCTGGTCGA	0.632000														25			7		0	0	1	0	0
FAM73B	84895	broad.mit.edu	37	9	131804628	131804628	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131804628C>T	uc004bxa.3	+	2	328	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F	FAM73B_uc004bwy.3_Non-coding_Transcript|FAM73B_uc004bwz.3_Non-coding_Transcript|FAM73B_uc011mbn.1_Missense_Mutation_p.L48F	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	Homo sapiens family with sequence similarity 73, member B (FAM73B), mRNA.	48						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GCGGAAAGTCCTCTTTGCCAC	0.647000														35			11		0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83433134	83433134	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:83433134C>T	uc003kio.1	-	4	813	c.394G>A	c.(394-396)Gga>Aga	p.G132R	EDIL3_uc003kip.1_Missense_Mutation_p.G122R	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	132	EGF-like 3.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GTACATATTCCACCATTTTTG	0.358000														115			51		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140216007	140216007	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140216007C>T	uc003lhq.2	+	0	2039	c.2039C>T	c.(2038-2040)tCg>tTg	p.S680L	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_uc011dac.2_Missense_Mutation_p.S680L	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	689	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)			AAGGCGTCGTCGCGGGCATCG	0.627000														102			28		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208218536	208218536	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:208218536G>A	uc001hgz.3	-	18	4273	c.3515C>T	c.(3514-3516)cCt>cTt	p.P1172L		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1172	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCCAGAGGCAGGAGGGCAGAG	0.493000														88			30		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55445082	55445082	+	Missense_Mutation	SNP	C	T	T	rs142522707	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55445082C>T	uc002qih.4	-	7	2573	c.2497G>A	c.(2497-2499)Gcc>Acc	p.A833T	NLRP7_uc010esk.3_Missense_Mutation_p.A833T|NLRP7_uc002qig.4_Missense_Mutation_p.A805T|NLRP7_uc002qii.4_Missense_Mutation_p.A833T|NLRP7_uc010esl.3_Missense_Mutation_p.A861T	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	833							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTGCAACTGGCTTCTGTAAGA	0.468000														86			22		0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74860079	74860079	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:74860079G>A	uc004air.3	+	11	1360	c.1151G>A	c.(1150-1152)gGt>gAt	p.G384D	GDA_uc011lse.2_Missense_Mutation_p.G310D|GDA_uc004aiq.3_Missense_Mutation_p.G384D|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.G310D|GDA_uc004ais.3_Missense_Mutation_p.G306D	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	384					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGGCTGGATGGTGAGATTGGA	0.448000														133			34		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230456417	230456417	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:230456417G>A	uc002vpv.3	-	1	611	c.464C>T	c.(463-465)cCt>cTt	p.P155L		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	155					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AGCAGGAACAGGCTGAAGCTG	0.552000														69			5		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878874	24878874	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24878874C>T	uc001wpf.4	+	3	2192	c.1874C>T	c.(1873-1875)cCc>cTc	p.P625L		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	625					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCAAAAACTCCCCAGGCTCAG	0.502000														12			5		0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2933011	2933011	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:2933011G>A	uc011mhj.2	+	4	341	c.341_splice	c.e4-1	p.G114_splice		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	114						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTACTTTTAGGCAAATGGCAC	0.453000														11			5		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228099	3228099	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:3228099C>T	uc004crg.4	-	6	8302	c.8145G>A	c.(8143-8145)acG>acA	p.T2715T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2715	Ig-like C2-type 11.					extracellular region				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)				GGCCGTACTCCGTCTCCATCC	0.617000														22			28		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94882608	94882608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:94882608G>A	uc002btj.3	+	3	792	c.727G>A	c.(727-729)Gat>Aat	p.D243N	MCTP2_uc010urg.1_Missense_Mutation_p.D243N|MCTP2_uc002bti.2_Missense_Mutation_p.D243N|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.D243N|MCTP2_uc002btg.4_Missense_Mutation_p.D243N|MCTP2_uc002bth.4_Missense_Mutation_p.D243N	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	243	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CCCAGTATGGGATGAGATAGT	0.358000														145			43		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099726	168099726	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:168099726C>T	uc002udx.3	+	8	1913	c.1824C>T	c.(1822-1824)atC>atT	p.I608I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.I433I|XIRP2_uc010fpq.3_Silent_p.I386I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	433					actin cytoskeleton organization	cell junction	actin binding	p.E607D(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCAAGAAATCATTGCTGGTG	0.423000														82			26		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40364092	40364092	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40364092G>A	uc002omp.4	-	30	14558	c.14550C>T	c.(14548-14550)gcC>gcT	p.A4850A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4850						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGCCTGTGGCATGACAGG	0.647000														51			12		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50266392	50266392	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50266392C>T	uc002ppm.3	-	0	124	c.113G>A	c.(112-114)aGg>aAg	p.R38K		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	38							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCTGGTCACCCTCCGGGGAGC	0.622000														101			46		0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887664	97887664	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:97887664G>A	uc011bgu.2	+	0	121	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CACCATCATGGGGAATCTTGG	0.408000														229			89		0	0	1	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691306	39691306	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39691306C>T	uc002okq.1	+	5	757	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA.	246	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TTATCCACTTCCTGCACAAGG	0.627000														271			115		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495309	71495309	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:71495309G>A	uc003kbw.4	+	4	6368	c.6127G>A	c.(6127-6129)Gag>Aag	p.E2043K	MAP1B_uc010iyw.1_Missense_Mutation_p.E2060K|MAP1B_uc010iyx.1_Missense_Mutation_p.E1917K|MAP1B_uc010iyy.1_Missense_Mutation_p.E1917K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	2043						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATACTGTTACGAGACTGCAGA	0.448000														131			37		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101748028	101748028	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:101748028C>T	uc001vox.1	-	27	3355	c.3166G>A	c.(3166-3168)Gat>Aat	p.D1056N		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1056						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCATTGCAATCTTCCTAAAGT	0.388000														60			21		0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8790865	8790865	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:8790865C>T	uc003srv.3	+	2	1193	c.282C>T	c.(280-282)tcC>tcT	p.S94S	NXPH1_uc011jxh.2_5'UTR	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	94	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGAGGAACTCCACAGACCTTC	0.478000														65			20		0	0	1	0	0
NXF2	56001	broad.mit.edu	37	X	101620169	101620169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:101620169G>A	uc022cav.1	-	19	2258	c.1277C>T	c.(1276-1278)cCc>cTc	p.P426L	NXF2_uc004eiz.4_Missense_Mutation_p.P338L|NXF2_uc004ejb.4_Missense_Mutation_p.P426L|NXF2_uc004eiy.4_Missense_Mutation_p.P426L	NM_001099686	NP_001093156	Q9GZY0	NXF2_HUMAN	Homo sapiens nuclear RNA export factor 2B (NXF2B), mRNA.	426	NTF2.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding			endometrium(2)|lung(2)	4						GGGGTCGAAGGGAATAGCCAA	0.572000														53			20		0	0	1	0	0
C10orf47	254427	broad.mit.edu	37	10	11911750	11911750	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:11911750G>A	uc001ikx.3	+	3	807	c.653G>A	c.(652-654)aGg>aAg	p.R218K	LOC219731_uc001iky.2_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA.	218	Pro-rich.									central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TCCCCGTTCAGGGAGGGCCGG	0.731000														6			3		0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1403202	1403202	+	Silent	SNP	G	A	A	rs138475489	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1403202G>A	uc003jck.3	-	12	1728	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	534					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CCACGACCACGAACTGCAACC	0.632000														17			9		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116931709	116931709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:116931709G>A	uc011lxl.2	+	2	1874	c.1874G>A	c.(1873-1875)gGg>gAg	p.G625E	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Missense_Mutation_p.G475E	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	625	Collagen-like 1.|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						CTGCTGATGGGGCCTCCGGGA	0.632000														68			11		0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12247800	12247800	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:12247800C>T	uc001mjz.3	+	13	2059	c.1771C>T	c.(1771-1773)Cct>Tct	p.P591S	MICAL2_uc010rch.1_Missense_Mutation_p.P591S|MICAL2_uc001mka.3_Missense_Mutation_p.P591S|MICAL2_uc010rci.2_Missense_Mutation_p.P591S|MICAL2_uc001mkb.3_Missense_Mutation_p.P591S|MICAL2_uc001mkc.3_Missense_Mutation_p.P591S|MICAL2_uc001mkd.3_Missense_Mutation_p.P420S|MICAL2_uc010rcj.2_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	591	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GTTTGGGATCCCTCCAGTGAC	0.512000														93			40		0	0	1	0	0
NUSAP1	51203	broad.mit.edu	37	15	41643234	41643234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:41643234C>T	uc001zns.4	+	3	619	c.355C>T	c.(355-357)Cat>Tat	p.H119Y	NUSAP1_uc001znr.4_Missense_Mutation_p.H119Y|NUSAP1_uc001znt.4_Missense_Mutation_p.H104Y|NUSAP1_uc001znv.4_Missense_Mutation_p.H118Y|NUSAP1_uc010ucw.2_Missense_Mutation_p.H96Y|NUSAP1_uc010bce.3_Missense_Mutation_p.H119Y|NUSAP1_uc001znu.4_Missense_Mutation_p.H118Y|NUSAP1_uc001znw.4_5'UTR	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	Homo sapiens nucleolar and spindle associated protein 1 (NUSAP1), transcript variant 1, mRNA.	119					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		ATTCCAGAATCATGAAAAGCA	0.378000														23			11		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74452068	74452068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74452068C>T	uc002sko.1	-	23	3195	c.3193G>A	c.(3193-3195)Gac>Aac	p.D1065N	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.D1049N|SLC4A5_uc010ffc.1_Missense_Mutation_p.D968N|SLC4A5_uc002skp.1_Missense_Mutation_p.D947N|SLC4A5_uc002sks.1_Silent_p.T956T	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	1065						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGGCCAGGTCGTGCTGGGAA	0.473000														81			28		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39068745	39068745	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39068745C>T	uc003xmt.4	+	11	1380	c.1135C>T	c.(1135-1137)Ctt>Ttt	p.L379F	ADAM32_uc011lch.2_Intron|ADAM32_uc003xmu.4_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	379	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGTCAAATGTCTTCAGAATAA	0.393000														15			11		0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750008	142750008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142750008C>T	uc011ksv.2	+	0	571	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CTCTGACACTCGCCTGTTGGA	0.512000														164			59		0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53912393	53912393	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:53912393G>A	uc003dhd.3	-	2	497	c.396C>T	c.(394-396)tcC>tcT	p.S132S	ACTR8_uc003dhb.3_5'Flank|ACTR8_uc003dhc.3_Silent_p.S21S	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	132					DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CCTGTTCAGGGGACACAGGAA	0.363000														193			42		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940754	22940754	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:22940754C>T	uc021urt.1	-	3	2112	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTACCACATTCTTCACATTTG	0.383000														76			21		0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27375502	27375502	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:27375502C>T	uc009xku.1	-	4	847	c.675G>A	c.(673-675)agG>agA	p.R225R	ANKRD26_uc001ith.2_Silent_p.R225R	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	225						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GTTTAGGTATCCTTTCTTCTT	0.264000														83			27		0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31374318	31374319	+	Missense_Mutation	DNP	GA	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31374318_31374319GA>TT	uc002wyc.3	+	4	638_639	c.317_318GA>TT	c.(316-318)cga>cTT	p.R106L	DNMT3B_uc010ztx.1_Intron|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.3_Missense_Mutation_p.R106L|DNMT3B_uc002wye.3_Missense_Mutation_p.R106L|DNMT3B_uc010ztz.2_Intron|DNMT3B_uc010zua.2_Intron|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.R118L	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	106	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCCGAACTCGAAATAACAACA	0.629000														54			18		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50534962	50534962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:50534962C>T	uc001zxz.3	-	11	1826	c.1484G>A	c.(1483-1485)aGg>aAg	p.R495K	HDC_uc001zxy.3_Missense_Mutation_p.R238K|HDC_uc010uff.2_Missense_Mutation_p.R462K	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	495					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.R495R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TCTGGCACCCCTGATTTGGGA	0.572000														42			16		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32050005	32050005	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32050005G>A	uc003nzl.2	-	8	3746	c.3544C>T	c.(3544-3546)Cct>Tct	p.P1182S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1269	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGCCCTCAGGGACAGTCCAG	0.597000														43			12		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113447007	113447007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113447007G>A	uc001tuj.3	+	9	2151	c.2011G>A	c.(2011-2013)Gat>Aat	p.D671N	OAS2_uc001tui.1_Missense_Mutation_p.D671N	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	671	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	p.D671N(2)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTGCTTCAAGGATGGGACTGG	0.512000														208			69		0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18152586	18152586	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:18152586C>T	uc001bat.3	+	2	889	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	225						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCTGGACTTTCGTGAGAGGCA	0.597000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			15		0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104238436	104238436	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:104238436G>A	uc004bbm.3	-	1	1261	c.939C>T	c.(937-939)ttC>ttT	p.F313F	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.F313F	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	313						integral to membrane											GCAGTTCCAGGAAATAGTGCC	0.607000														78			48		0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124229290	124229290	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124229290C>T	uc001ufr.3	+	11	1721	c.1473C>T	c.(1471-1473)tcC>tcT	p.S491S		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	491					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TGTACAGCTCCAGCCACCCAC	0.527000														61			22		0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187447255	187447255	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:187447255G>A	uc003frp.3	-	4	1395	c.938C>T	c.(937-939)gCc>gTc	p.A313V	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.A313V|BCL6_uc010hza.2_Missense_Mutation_p.A211V|BCL6_uc003frq.2_Missense_Mutation_p.A313V	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	313					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GAAATGCAGGGCAATCTCATC	0.592000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									104			44		0	0	1	0	0
ANKRD6	22881	broad.mit.edu	37	6	90326361	90326361	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:90326361G>A	uc003pni.4	+	7	1040	c.699G>A	c.(697-699)acG>acA	p.T233T	ANKRD6_uc003pne.4_Silent_p.T233T|ANKRD6_uc003pnf.4_Silent_p.T233T|ANKRD6_uc011dzy.2_Silent_p.T233T|ANKRD6_uc010kcd.3_Silent_p.T200T|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN	Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.	233			T -> M (in dbSNP:rs2273238).				protein binding	p.T233M(1)		NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GAGCAGATACGACCATTGTTA	0.473000														36			23		0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183778095	183778095	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:183778095C>T	uc003fmk.3	+	8	1333	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	433						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ACCTGCTCTTCATGGCCTCCT	0.567000														175			66		0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86678279	86678279	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:86678279C>T	uc002sri.4	+	3	723	c.396C>T	c.(394-396)cgC>cgT	p.R132R	KDM3A_uc010ytj.2_Silent_p.R132R|KDM3A_uc010ytk.2_Silent_p.R80R	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	132					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CTTCTGTTCGCTTTCTGGGAG	0.358000														72			30		0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49585897	49585897	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:49585897G>A	uc003ozk.4	-	2	438	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L	RHAG_uc010jzl.3_Silent_p.L126L|RHAG_uc010jzm.3_Silent_p.L126L	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	126					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AAAGATATCAGAACTGTGGCT	0.403000														33			16		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141722084	141722084	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141722084G>T	uc003vwy.3	+	6	781	c.727G>T	c.(727-729)Ggg>Tgg	p.G243W		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	243	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCGAGCATTGGGCCCCTACT	0.522000														60			12		2.27111e-07	2.2764e-07	1	1	0
CD99	4267	broad.mit.edu	37	X	2632473	2632473	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:2632473C>T	uc004cqm.3	+	1	252	c.78C>T	c.(76-78)ttC>ttT	p.F26F	CD99_uc010nda.3_Silent_p.F26F|CD99_uc004cqn.3_Non-coding_Transcript	NM_002414	NP_002405	P14209	CD99_HUMAN	Homo sapiens CD99 molecule (CD99), transcript variant 1, mRNA.	26					cell adhesion	cytoplasm|integral to plasma membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						ATGGTGGTTTCGATTTATCCG	0.294000														227			54		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35709163	35709163	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:35709163G>A	uc003jjo.3	+	18	2890	c.2779G>A	c.(2779-2781)Gaa>Aaa	p.E927K	SPEF2_uc003jjq.4_Missense_Mutation_p.E922K|SPEF2_uc003jjp.1_Missense_Mutation_p.E413K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	927					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAGAGAAGGAAATTCATCA	0.428000														99			8		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564418	176564418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176564418C>T	uc001gkz.3	+	2	2842	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	PAPPA2_uc001gky.1_Missense_Mutation_p.R560C|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	560	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCCTTCAGCCGCTACAACAT	0.557000														63			14		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50731719	50731719	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:50731719C>T	uc002lfe.2	+	9	2323	c.1707C>T	c.(1705-1707)tcC>tcT	p.S569S	DCC_uc010xdr.1_Silent_p.S417S|DCC_uc010dpf.2_Silent_p.S224S	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	569	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGAGGTGTCCACAGGAAAAG	0.473000														144			44		0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3656551	3656551	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:3656551G>A	uc002lyj.2	-	5	562	c.473C>T	c.(472-474)tCc>tTc	p.S158F	PIP5K1C_uc010xhq.2_Missense_Mutation_p.S158F|PIP5K1C_uc010xhr.2_Missense_Mutation_p.S158F	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	158	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		ATTGCACAGGGAGTACTGGAA	0.622000														63			23		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127623022	127623022	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:127623022C>T	uc003kuu.3	-	53	7297	c.6858G>A	c.(6856-6858)agG>agA	p.R2286R		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2286	EGF-like 38; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTTGATCTTCCCTGAGGGCAT	0.453000														132			42		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32137577	32137577	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:32137577C>T	uc001rks.3	+	3	4102	c.3688C>T	c.(3688-3690)Caa>Taa	p.Q1230*		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1230										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			CACTGTTGTTCAATTTAAGAG	0.378000														54			26		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149500563	149500563	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149500563G>A	uc010lpk.3	+	54	7955	c.7955_splice	c.e54-1	p.G2652_splice		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2655	TIL 4.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATACTCCCAGGATGCCGCTGT	0.677000														38			12		0	0	1	0	0
SKAP2	8935	broad.mit.edu	37	7	26766566	26766566	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:26766566G>A	uc003syc.3	-	6	822	c.529C>T	c.(529-531)Cta>Tta	p.L177L	SKAP2_uc011jzi.2_Silent_p.L5L|SKAP2_uc011jzj.2_Silent_p.L162L	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	177	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TCCTTTCTTAGAGTGTTATTC	0.323000														59			5		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719089	140719089	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140719089G>A	uc003ljk.2	+	0	736	c.551G>A	c.(550-552)aGg>aAg	p.R184K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.R184K	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	184	Cadherin 2.				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)			GACGTGCGAAGGGGAGCTGAT	0.562000														92			33		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52605227	52605227	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:52605227G>A	uc002lfs.3	-	4	478	c.306C>T	c.(304-306)ctC>ctT	p.L102L	CCDC68_uc002lft.3_Silent_p.L102L	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	102								p.Q101Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TCATTTCTAAGAGCTGTAGGT	0.353000														47			5		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14801670	14801670	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14801670G>A	uc003zlm.3	-	20	4490	c.3674C>T	c.(3673-3675)tCc>tTc	p.S1225F	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1225					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAGTTCCATGGAAAAGCTGTG	0.423000														25			11		0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79350286	79350286	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:79350286G>A	uc010ysd.2	+	4	513	c.446G>A	c.(445-447)tGg>tAg	p.W149*	REG1A_uc002snz.3_Nonsense_Mutation_p.W149*	NM_002909	NP_002900	P05451	REG1A_HUMAN	Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA.	149	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.K148K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TTCCAGAAATGGAAGGATGTG	0.418000														39			23		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685369	100685370	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100685369_100685370CC>TT	uc003uxp.1	+	2	10725_10726	c.10672_10673CC>TT	c.(10672-10674)cca>TTa	p.P3558L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3558	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTCCAGCAACTCTT	0.480000														398			45		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1996215	1996215	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:1996215C>T	uc021qsx.1	-	6	1033	c.802G>A	c.(802-804)Gag>Aag	p.E268K	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	268						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.D267Y(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ACTCCATTCTCATCAGGTGTC	0.502000														12			4		0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166944732	166944732	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:166944732C>T	uc003qvd.1	-	4	474	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	RPS6KA2_uc011ego.1_Missense_Mutation_p.A7T|RPS6KA2_uc010kkl.1_Missense_Mutation_p.A7T|RPS6KA2_uc003qvb.1_Missense_Mutation_p.A96T|RPS6KA2_uc003qvc.1_Missense_Mutation_p.A104T	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	96	Protein kinase 1.				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|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TTTAGGGTGGCTTTCTTAAGG	0.478000														93			37		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36181711	36181711	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:36181711C>T	uc003olv.4	+	7	2761	c.2537C>T	c.(2536-2538)tCc>tTc	p.S846F	BRPF3_uc010jwb.3_Intron|BRPF3_uc011dtj.2_Intron|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Intron	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	846					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCTGCACCTTCCTTGTCTGAG	0.493000														148			15		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324106	79324106	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:79324106C>T	uc010mpk.3	-	7	3208	c.3084G>A	c.(3082-3084)ggG>ggA	p.G1028G	PRUNE2_uc022bih.1_Silent_p.G850G	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1028					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGTCTAGGTTCCCAGGACCTG	0.448000														21			12		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3047596	3047596	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:3047596C>T	uc022aqr.1	-	33	5626	c.5236G>A	c.(5236-5238)Gag>Aag	p.E1746K	CSMD1_uc011kwj.2_Missense_Mutation_p.E1139K|CSMD1_uc003wqe.3_Missense_Mutation_p.E903K|CSMD1_uc010lrg.3_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1747	Sushi 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TATCTGGGCTCGGGGACAGAG	0.557000														6			4		0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102791757	102791757	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:102791757G>A	uc003hvy.4	+	4	1133	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	BANK1_uc003hvx.4_Missense_Mutation_p.E272K|BANK1_uc010ill.3_Missense_Mutation_p.E154K|BANK1_uc003hvz.4_Missense_Mutation_p.E257K	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	287	DBB.				B cell activation			p.E287A(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAAGGCAAAGGAATGCCTATT	0.398000														55			28		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175682	143175682	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143175682C>T	uc003wdc.1	+	0	717	c.717C>T	c.(715-717)ttC>ttT	p.F239F	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	239					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TCATCTCCTTCCTCATTCTTT	0.512000														84			43		0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156430	70156430	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:70156430C>T	uc003hej.3	+	4	1213	c.1211C>T	c.(1210-1212)gCt>gTt	p.A404V	UGT2B28_uc010ihr.3_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	404					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GATAACATTGCTCACATGAAG	0.453000														85			21		0	0	1	0	0
PKM2	5315	broad.mit.edu	37	15	72492920	72492920	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:72492920G>A	uc002aty.2	-	9	1668	c.1384C>T	c.(1384-1386)Cag>Tag	p.Q462*	GRAMD2_uc002atq.3_5'Flank|GRAMD2_uc010bis.2_5'Flank|PKM2_uc002atr.1_5'UTR|PKM2_uc010bit.1_Nonsense_Mutation_p.Q467*|PKM2_uc010uki.2_Nonsense_Mutation_p.Q536*|PKM2_uc002atx.2_Nonsense_Mutation_p.Q462*|PKM2_uc002atw.2_Nonsense_Mutation_p.Q462*|PKM2_uc010ukj.2_Nonsense_Mutation_p.Q447*|PKM2_uc010ukk.2_Nonsense_Mutation_p.Q388*|PKM2_uc002atv.2_Nonsense_Mutation_p.Q497*|PKM2_uc010biu.1_Nonsense_Mutation_p.Q483*	NM_002654	NP_002645	P14618	KPYM_HUMAN	Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 1, mRNA.	462	Interaction with POU5F1.				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1)	13					Pyruvic acid(DB00119)	AGGTGGGCCTGACGAGCTGTC	0.617000														109			9		0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72146332	72146332	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:72146332C>T	uc002fcb.3	+	26	3975	c.3620C>T	c.(3619-3621)cCa>cTa	p.P1207L	DHX38_uc010vmp.2_Missense_Mutation_p.P519L	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	1207					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ATCTACACTCCAGGCCGGAAA	0.627000														74			42		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94129588	94129588	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:94129588C>T	uc001pet.2	-	1	662	c.490G>A	c.(490-492)Gcc>Acc	p.A164T		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	164						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACCGCAATGGCTGTCAGTGTC	0.557000														50			20		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51287543	51287543	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:51287543G>A	uc003tps.3	-	1	325	c.140C>T	c.(139-141)tCg>tTg	p.S47L	COBL_uc003tpr.4_Missense_Mutation_p.S47L|COBL_uc011kcl.2_Missense_Mutation_p.S47L|COBL_uc010kzc.3_Missense_Mutation_p.S47L|COBL_uc003tpt.3_Missense_Mutation_p.S47L	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	47										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GTTCTGCTGCGACCCGAGGGC	0.627000														69			26		0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110226283	110226283	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:110226283G>A	uc001tpj.2	-	11	2225	c.2130C>T	c.(2128-2130)ctC>ctT	p.L710L	TRPV4_uc001tpg.2_Silent_p.L676L|TRPV4_uc021rdp.1_Silent_p.L650L|TRPV4_uc001tph.2_Silent_p.L663L|TRPV4_uc001tpi.2_Silent_p.L603L|TRPV4_uc001tpk.2_Silent_p.L710L	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	710					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GCATGTTGAGGAGCAGCACAA	0.602000														66			22		0	0	1	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77492582	77492582	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:77492582G>A	uc001xsy.3	-	0	2453	c.1554C>T	c.(1552-1554)ccC>ccT	p.P518P		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein-like (IRF2BPL), mRNA.	518						nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						ggggtgcgctgggggcgcggc	0.766000														4			5		0	0	1	0	0
CEACAM4	1089	broad.mit.edu	37	19	42125730	42125730	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42125730G>A	uc002orh.1	-	6	819	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_001817	NP_001808	O75871	CEAM4_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.	236						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CTTTGTGGTCGATCTGGCAGT	0.527000														108			48		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155450997	155450997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:155450997G>A	uc003qqb.3	+	5	1913	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	TIAM2_uc003qqe.3_Missense_Mutation_p.A214T	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	214					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGTGCCTGAAGCCAGGAGGGG	0.637000														26			24		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73042718	73042718	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73042718G>A	uc004ebn.2	+	0		c.30679G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GCTACTCAATGAAGTTTCTTC	0.353000														13			17		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440076	124440076	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124440076G>A	uc010san.2	+	0	112	c.112G>A	c.(112-114)Gca>Aca	p.A38T		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		AACGAAGAGAGCAGACCTCCA	0.527000														84			26		0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67766748	67766748	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67766748G>A	uc001omw.1	-	4	662	c.582C>T	c.(580-582)tcC>tcT	p.S194S		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	194					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											CCTTGTAGTGGGAGTACTCAT	0.607000														22			13		0	0	1	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328916	6328916	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:6328916G>A	uc003zjw.3	+	0	568	c.321G>A	c.(319-321)agG>agA	p.R107R	TPD52L3_uc003zjv.3_Silent_p.R107R|TPD52L3_uc003zjx.2_Silent_p.R107R	NM_033516	NP_277051	Q96J77	TPD55_HUMAN	Homo sapiens tumor protein D52-like 3 (TPD52L3), transcript variant 1, mRNA.	107							protein binding	p.C106F(1)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		TCATCTGCAGGAAGCTTGGAG	0.507000														52			30		0	0	1	0	0
IER5L	389792	broad.mit.edu	37	9	131939645	131939645	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131939645G>A	uc010myt.1	-	0	896	c.687C>T	c.(685-687)ccC>ccT	p.P229P		NM_203434	NP_982258	Q5T953	IER5L_HUMAN	Homo sapiens immediate early response 5-like (IER5L), mRNA.	229	Ala-rich.												Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		gggaggaggcgggggccgggg	0.771000														14			8		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45960781	45960781	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:45960781G>A	uc003bgi.1	+	14	1862	c.1715G>A	c.(1714-1716)gGa>gAa	p.G572E	FBLN1_uc003bgj.1_Intron	NM_006485	NP_006476	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant B, mRNA.	0	EGF-like 9; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCCAAGAAGGGAAGGCAGAAC	0.527000														76			6		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76397922	76397922	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:76397922C>T	uc021rkq.1	+	14	3197	c.2862C>T	c.(2860-2862)gcC>gcT	p.A954A	LMO7_uc010thv.2_Silent_p.A672A|LMO7_uc001vjt.1_Silent_p.A620A|LMO7_uc001vjv.3_Silent_p.A721A|LMO7_uc010thw.2_Silent_p.A571A|LMO7_uc001vjw.1_Silent_p.A627A	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1006						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTTCTAAAGCCACATTGTCTT	0.473000														71			8		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072540	17072540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17072540C>T	uc002zlp.1	-	0	1161	c.901G>A	c.(901-903)Gag>Aag	p.E301K		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	301					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGGGTCTCCTCGTCGACCTCC	0.493000														168			81		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179516823	179516823	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179516823C>T	uc021vsy.1	-	158	32218	c.31993_splice	c.e158+1	p.V10665_splice	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11592	Glu-rich.|Pro-rich.						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)			TCATTATTACCTTCAGGGGGA	0.353000														87			34		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940198	68940198	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:68940198G>A	uc009xpn.1	-	6	1047	c.924C>T	c.(922-924)atC>atT	p.I308I	CTNNA3_uc001jmw.2_Silent_p.I308I|CTNNA3_uc001jmx.4_Silent_p.I308I|CTNNA3_uc009xpo.1_Silent_p.I168I|CTNNA3_uc001jna.2_Silent_p.I320I	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	308					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAGCCCCACTGATAATGGCTT	0.478000														60			25		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152583269	152583269	+	Silent	SNP	G	A	A	rs138173087		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:152583269G>A	uc021zhb.1	-	98	19093	c.18870C>T	c.(18868-18870)tcC>tcT	p.S6290S	SYNE1_uc003qos.4_Silent_p.S814S|SYNE1_uc003qot.4_Silent_p.S6219S|SYNE1_uc003qou.4_Silent_p.S6290S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6290					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTCTTCAGCGGATGATTTCT	0.393000										HNSCC(10;0.0054)				41			23		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30973981	30973981	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:30973981G>A	uc021vfn.1	-	9	1256	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	CAPN13_uc021vfm.1_Silent_p.F408F|CAPN13_uc002rnp.1_Silent_p.F408F	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	408					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAATCACTTGGAAATCGAGTG	0.473000														17			9		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55346568	55346568	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55346568G>A	uc002qhm.1	+	2	116	c.70_splice	c.e2+1	p.G24_splice	KIR3DL2_uc010yfj.2_Splice_Site_p.G17_splice|KIR3DL2_uc010yfk.1_Splice_Site|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Splice_Site_p.G24_splice|KIR3DL2_uc002qhn.1_5'Flank	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	119					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.E23D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGCCACAGGAGGGTAAGTCCT	0.522000														182			36		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169548310	169548310	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:169548310C>T	uc003fgb.3	+	2	1225	c.1225C>T	c.(1225-1227)Cat>Tat	p.H409Y		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	409										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AGAGAACAATCATCTGGAGTA	0.383000														15			4		0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78062033	78062033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:78062033G>A	uc002ffh.4	+	1	226	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	CLEC3A_uc021tlr.1_5'Flank	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	49					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GACTCAAATTGAAAAGCTCTG	0.443000														54			33		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53208027	53208027	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53208027C>T	uc001saz.3	-	0	38	c.38G>A	c.(37-39)gGg>gAg	p.G13E		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	0						keratin filament	structural molecule activity	p.G13W(2)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CTTCCCGCACCCGTTGAGCAT	0.537000														49			22		0	0	1	0	0
CLEC7A	64581	broad.mit.edu	37	12	10275908	10275908	+	Missense_Mutation	SNP	G	A	A	rs140318683	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10275908G>A	uc001qxg.2	-	4	734	c.547C>T	c.(547-549)Ctt>Ttt	p.L183F	CLEC7A_uc001qxe.3_Non-coding_Transcript|CLEC7A_uc001qxf.2_Missense_Mutation_p.L137F|CLEC7A_uc001qxh.2_Intron|CLEC7A_uc001qxi.2_Intron|CLEC7A_uc001qxj.2_Missense_Mutation_p.L104F|CLEC7A_uc001qxk.1_Non-coding_Transcript|CLEC7A_uc009zhg.1_Non-coding_Transcript	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	Homo sapiens C-type lectin domain family 7, member A (CLEC7A), transcript variant 1, mRNA.	183	C-type lectin.				T cell activation|carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition	cytoplasm|integral to membrane	MHC protein binding|metal ion binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GGCCGAGAAAGGCCTATCCAA	0.388000														48			10		0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31497190	31497190	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31497190C>T	uc002ecf.4	+	3	463	c.444C>T	c.(442-444)ttC>ttT	p.F148F	SLC5A2_uc010car.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	148					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TCTCCCTTTTCCTGTACATCT	0.602000														54			13		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68992794	68992794	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:68992794G>A	uc003xxv.1	+	15	1786	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	PREX2_uc003xxu.1_Missense_Mutation_p.E587K|PREX2_uc011lez.1_Missense_Mutation_p.E522K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	587					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAAAGTTGTGGAAAATGTTAT	0.318000														44			4		0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94822081	94822081	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:94822081C>T	uc011lgk.2	+	25	2801	c.2730C>T	c.(2728-2730)ttC>ttT	p.F910F	TMEM67_uc010maw.2_Silent_p.F616F|TMEM67_uc003yga.4_Silent_p.F829F|TMEM67_uc011lgl.2_Silent_p.F309F	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	910					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GAATGGAATTCATGGAACCAA	0.299000														54			18		0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2062038	2062038	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2062038G>A	uc001qjx.1	-	6	1148	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	DCP1B_uc010sdy.1_Silent_p.F254F	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	356					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.F356F(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GAAGTTTCTCGAACAGGTTCT	0.532000														77			20		0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231314955	231314955	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:231314955C>T	uc002vqt.3	+	7	946	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	SP100_uc002vqs.3_Missense_Mutation_p.P269S|SP100_uc002vqu.1_Missense_Mutation_p.P269S|SP100_uc010zmb.2_Missense_Mutation_p.P269S|SP100_uc002vqq.2_Missense_Mutation_p.P269S|SP100_uc010zmc.2_Missense_Mutation_p.P244S|SP100_uc002vqv.2_Missense_Mutation_p.P234S	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	269					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGCCCGTTGCCCTGTGATGA	0.433000														81			27		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76912528	76912528	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:76912528G>A	uc001oyb.2	+	35	5160	c.4888G>A	c.(4888-4890)Gga>Aga	p.G1630R	MYO7A_uc010rsm.1_Missense_Mutation_p.G1581R|MYO7A_uc001oyc.2_Missense_Mutation_p.G1592R|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.G802R|MYO7A_uc001oye.2_5'Flank	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1630	SH3.				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						CTTTGCCAAGGGAGACCTCAT	0.597000														29			15		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631512	32631512	+	Missense_Mutation	SNP	G	A	A	rs56107531		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:32631512G>A	uc003zrg.1	-	0	4156	c.4066C>T	c.(4066-4068)Cgc>Tgc	p.R1356C	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.	1356			R -> C (in dbSNP:rs56107531).		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)		GATTTTCTGCGAACCTCATGC	0.398000														213			103		0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46915457	46915458	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46915457_46915458CC>TT	uc002pep.3	-	0	1462_1463	c.610_611GG>AA	c.(610-612)ggg>AAg	p.G204K		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	204						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTCAGCTTCCCCCAGGACACC	0.693000														20			14		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114296614	114296614	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:114296614C>T	uc004bff.2	+	4	926	c.702C>T	c.(700-702)gtC>gtT	p.V234V	ZNF483_uc011lwq.2_Silent_p.V234V|ZNF483_uc004bfg.2_Silent_p.V234V	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	234	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TGGAAGAAGTCTCAAAAAGCT	0.393000														92			17		0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142724037	142724037	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142724037G>A	uc003wcc.1	-	0	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GGTGGCTGAGGAAGAAATACA	0.443000														105			36		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111164437	111164437	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:111164437C>T	uc001vqx.3	+	47	5327	c.5038C>T	c.(5038-5040)Ccc>Tcc	p.P1680S		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1680	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GACCACCATTCCCGAGCAGAG	0.612000														87			17		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8235340	8235340	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:8235340G>A	uc003wsh.4	-	1	579	c.579C>T	c.(577-579)ccC>ccT	p.P193P		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	193							ATP binding|non-membrane spanning protein tyrosine kinase activity										AAGGAAATGAGGGTTTTTCTT	0.617000														90			30		0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39087996	39087996	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:39087996C>T	uc002oix.1	-	23	1915	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	MAP4K1_uc002oiy.1_Missense_Mutation_p.D603N|MAP4K1_uc010xug.2_3'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	603	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTTTGGTGTCCTGGATCTTG	0.592000														311			30		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151067847	151067847	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151067847G>A	uc003eyp.3	+	15	2275	c.2146_splice	c.e15-1	p.D716_splice	MED12L_uc011bnz.2_Splice_Site_p.D576_splice|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	716					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTTTTTCAGGATGAATCTTC	0.458000														328			110		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423271	56423271	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56423271G>A	uc010ygg.2	-	4	1937	c.1912C>T	c.(1912-1914)Ctt>Ttt	p.L638F		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	638							ATP binding	p.L638P(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAGTGAAAAAGTCGTAGAATG	0.418000														81			32		0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57523364	57523364	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:57523364C>T	uc002aec.3	+	8	878	c.594C>T	c.(592-594)tcC>tcT	p.S198S	TCF12_uc010ugm.1_Silent_p.S250S|TCF12_uc010ugn.1_Silent_p.S194S|TCF12_uc002aea.3_Silent_p.S198S|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Silent_p.S198S|TCF12_uc002aed.3_Silent_p.S198S|TCF12_uc010ugo.2_Missense_Mutation_p.P9L|TCF12_uc002aee.3_Silent_p.S28S|TCF12_uc010bft.3_Silent_p.S28S	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	198					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATGCACCATCCCCAAATTCAG	0.343000			T	TEC	extraskeletal myxoid chondrosarcoma									125			46		0	0	1	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29773104	29773104	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:29773104G>A	uc003tai.3	+	9		c.774G>A								Homo sapiens dpy-19-like 2 pseudogene 3 (C. elegans) (DPY19L2P3), transcript variant 1, non-coding RNA.																		ACATATAGTCGAAAATCTGCC	0.269000														82			31		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10089637	10089637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10089637C>T	uc002mmq.1	-	39	2980	c.2894G>A	c.(2893-2895)gGa>gAa	p.G965E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	965	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)			CCCAAGGGGTCCTGGTGGTCC	0.637000														15			5		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050262	42050262	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:42050262G>A	uc001cgz.4	-	3	1420	c.207C>T	c.(205-207)ggC>ggT	p.G69G	HIVEP3_uc001cha.4_Silent_p.G69G|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	69					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.G69G(2)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCTCCTGAGAGCCTTCCCTAA	0.637000														162			70		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66937411	66937411	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:66937411C>T	uc004dwu.2	+	4	3380	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	AR_uc022byk.1_Intron|AR_uc004dwv.2_Silent_p.F223F	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	754	Interaction with MYST2.|Ligand-binding.		T -> A (in prostate cancer).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GGCGATCCTTCACCAATGTCA	0.537000									Androgen Insensitivity Syndrome					15			23		0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92844872	92844872	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92844872C>T	uc011khy.2	-	3	649	c.626G>A	c.(625-627)gGg>gAg	p.G209E	HEPACAM2_uc003uml.3_Missense_Mutation_p.G174E|HEPACAM2_uc010lff.3_Missense_Mutation_p.G174E|HEPACAM2_uc003umm.3_Missense_Mutation_p.G186E	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	186	Ig-like C2-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GACAGGTCTCCCATTTTTTAG	0.507000														81			22		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28610179	28610179	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:28610179C>T	uc001urw.3	-	11	1392	c.1310_splice	c.e11-1	p.R437_splice	FLT3_uc010aao.3_Splice_Site|FLT3_uc010tdn.2_Splice_Site_p.R437_splice	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	437					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGAGGTTTCCCTATAGAAA	0.473000			"""Mis, O"""		"""AML, ALL"""									97			46		0	0	1	0	0
DCAF7	10238	broad.mit.edu	37	17	61660954	61660954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61660954C>T	uc002jbc.3	+	5	836	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	DCAF7_uc002jbb.3_Non-coding_Transcript|DCAF7_uc010wpn.2_Intron	NM_005828	NP_005819	P61962	DCAF7_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 7 (DCAF7), mRNA.	207					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						GTTTGACCTCCGCCATCTAGA	0.562000														36			19		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18413795	18413795	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:18413795G>A	uc003wza.3	-	14	2955	c.2852C>T	c.(2851-2853)tCa>tTa	p.S951L	PSD3_uc003wyx.4_Missense_Mutation_p.S280L|PSD3_uc003wyy.3_Missense_Mutation_p.S417L|PSD3_uc003wyz.3_Missense_Mutation_p.S252L	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	952					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GGGGGGATATGAGCGGTGCTC	0.488000														153			46		0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183197559	183197559	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:183197559G>A	uc001gqa.2	+	10	1833	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	LAMC2_uc001gpz.4_Missense_Mutation_p.E507K|LAMC2_uc010poa.2_Missense_Mutation_p.E207K	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	507	Laminin EGF-like 6.				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						CCCCTTTGGTGAACATGGCCC	0.557000											OREG0014041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			31		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661269	77661269	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:77661269G>A	uc011cbx.2	+	4	2896	c.1943G>A	c.(1942-1944)gGc>gAc	p.G648D	SHROOM3_uc011cbz.1_Missense_Mutation_p.G472D|SHROOM3_uc003hkf.1_Missense_Mutation_p.G523D|SHROOM3_uc003hkg.3_Missense_Mutation_p.G426D	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	648					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAAGGCCTAGGCCAGAGCCTG	0.557000														108			48		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149506170	149506170	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149506170G>A	uc003lro.3	-	10	2056	c.1587C>T	c.(1585-1587)ccC>ccT	p.P529P	PDGFRB_uc010jhd.3_Silent_p.P368P	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	529					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCACCTTAAAGGGCAAGGCTG	0.562000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									38			5		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162762229	162762229	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:162762229C>T	uc002ubx.4	+	14	2013	c.1829C>T	c.(1828-1830)gCc>gTc	p.A610V	SLC4A10_uc010zcs.2_Missense_Mutation_p.A591V|SLC4A10_uc002uby.4_Missense_Mutation_p.A580V	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	610					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATACTTGTGGCCACAGATGCT	0.433000														87			37		0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122641360	122641360	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:122641360G>A	uc003yph.2	-	1	759	c.221C>T	c.(220-222)tCc>tTc	p.S74F		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	74						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GGTTTCTAGGGATTTTTTCAT	0.398000														246			79		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108622612	108622612	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:108622612G>A	uc002tdv.3	+	6	1125	c.849G>A	c.(847-849)gtG>gtA	p.V283V	SLC5A7_uc010ywm.2_Silent_p.V36V|SLC5A7_uc010fjj.3_Silent_p.V283V|SLC5A7_uc010ywn.2_Silent_p.V170V	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	283					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGTGCCTGGTGATGGCCATCC	0.527000														76			33		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579281	179579281	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179579281C>T	uc021vsy.1	-	87	22713	c.22488G>A	c.(22486-22488)aaG>aaA	p.K7496K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K4157K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8423	Ig-like 57.						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)			CACTGAGCTTCTTCACAAATC	0.438000														29			11		0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20216109	20216109	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:20216109G>A	uc002nor.2	+	2	349	c.210G>A	c.(208-210)atG>atA	p.M70I	ZNF90_uc021url.1_Non-coding_Transcript	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	70	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						GACATGAGATGATTGCCAAAT	0.408000														94			29		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90537175	90537175	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90537175G>A	uc010mqi.3	+	3	2382	c.2353G>A	c.(2353-2355)Ggc>Agc	p.G785S	FAM75C1_uc004apq.4_Missense_Mutation_p.G768S|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CAGCCTCAAAGGCAGCACCCA	0.577000														96			14		0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44261954	44261954	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:44261954G>A	uc010xcy.1	-	6	1319	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S	ST8SIA5_uc002lci.1_Missense_Mutation_p.P62S|ST8SIA5_uc002lcj.1_Missense_Mutation_p.P215S|ST8SIA5_uc010xcz.1_Missense_Mutation_p.P184S	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	215					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						ATGATGCTGGGGTTCACAGTG	0.542000														29			11		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126398344	126398344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126398344G>A	uc003ifj.4	+	12	12328	c.12328G>A	c.(12328-12330)Gga>Aga	p.G4110R	FAT4_uc011cgp.2_Missense_Mutation_p.G2373R|FAT4_uc003ifi.1_Missense_Mutation_p.G1588R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4110	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTTACAGTTGGAGGTATCAG	0.353000														121			57		0	0	1	0	0
FGL1	2267	broad.mit.edu	37	8	17726125	17726125	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:17726125C>T	uc003wye.3	-	8	1527	c.861G>A	c.(859-861)tgG>tgA	p.W287*	FGL1_uc003wxx.3_Nonsense_Mutation_p.W237*|FGL1_uc003wxy.3_Nonsense_Mutation_p.W237*|FGL1_uc003wya.3_Nonsense_Mutation_p.W237*|FGL1_uc003wyb.3_Nonsense_Mutation_p.W237*	NM_201553	NP_963847	Q08830	FGL1_HUMAN	Homo sapiens fibrinogen-like 1 (FGL1), transcript variant 4, mRNA.	237	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		GATCTCTGTCCCACGTGCTGA	0.463000														131			58		0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200534713	200534713	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:200534713G>A	uc010ppk.1	-	23	4185	c.3746C>T	c.(3745-3747)tCg>tTg	p.S1249L	KIF14_uc010ppj.1_Missense_Mutation_p.S758L	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	1249	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						AAAATCTAACGAAGAACCAAT	0.323000														58			30		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52200089	52200089	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52200089G>A	uc001ryw.3	+	26	4997	c.4819G>A	c.(4819-4821)Gag>Aag	p.E1607K	SCN8A_uc010snl.2_Missense_Mutation_p.E1566K	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1607					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGATATAATTGAGAAATACTT	0.433000														160			62		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51921502	51921502	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:51921502C>T	uc003pah.1	-	17	1963	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K	PKHD1_uc003pai.3_Missense_Mutation_p.E563K	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	563					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCACCTCGTTCAAATCCAAGC	0.403000														97			34		0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48239742	48239742	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:48239742G>A	uc002phj.4	+	4	1282	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	EHD2_uc010xyu.2_Silent_p.L208L	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	344					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		AGATTCAGCTGGAACATCACA	0.527000														53			36		0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76715603	76715603	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:76715603G>A	uc003kfa.3	+	18	2186	c.2141G>A	c.(2140-2142)cGa>cAa	p.R714Q	PDE8B_uc003kfd.3_Missense_Mutation_p.R667Q|PDE8B_uc003kfe.3_Missense_Mutation_p.R617Q|PDE8B_uc003kfb.3_Missense_Mutation_p.R694Q|PDE8B_uc003kfc.3_Missense_Mutation_p.R659Q	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	714	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AACCATTATCGAACGCTGCGC	0.413000														66			28		0	0	1	0	0
MIR31HG	554202	broad.mit.edu	37	9	21455491	21455491	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21455491C>T	uc003zpe.2	-	3		c.924G>A								Homo sapiens MIR31 host gene (non-protein coding) (MIR31HG), non-coding RNA.																		CAATGGCCCTCCTCTTCCCTC	0.502000														3			4		0	0	1	0	0
SPIB	6689	broad.mit.edu	37	19	50926223	50926223	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50926223G>A	uc002psd.3	+	3	293	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	SPIB_uc021uyc.1_Silent_p.S70S|SPIB_uc002pse.3_Missense_Mutation_p.E90K|SPIB_uc010ycc.2_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.	90					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		AGGGAACCTCGAACTGGCCCC	0.642000														116			35		0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30094997	30094997	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:30094997C>T	uc002dwe.3	+	6	634	c.499C>T	c.(499-501)Ctc>Ttc	p.L167F	BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.3_Missense_Mutation_p.L167F	NM_002720	NP_002711	P60510	PP4C_HUMAN	Homo sapiens protein phosphatase 4, catalytic subunit (PPP4C), mRNA.	167					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	NF-kappaB-inducing kinase activity|metal ion binding|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GCACGGGGGCCTCTCCCCCTC	0.632000														53			24		0	0	1	0	0
PRKAB2	5565	broad.mit.edu	37	1	146638497	146638497	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:146638497G>A	uc001epe.3	-	3	490	c.345C>T	c.(343-345)atC>atT	p.I115I	PRKAB2_uc010ozm.2_Silent_p.I33I|PRKAB2_uc010ozn.2_Silent_p.I33I|PRKAB2_uc009wjf.1_Silent_p.I115I	NM_005399	NP_005390	O43741	AAKB2_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 2 non-catalytic subunit (PRKAB2), mRNA.	115					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	GGAGGTCCAGGATGGCAACAA	0.438000														43			9		0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169533142	169533142	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:169533142C>T	uc003mai.4	+	0	226	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	FOXI1_uc003maj.4_Missense_Mutation_p.P61S	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	61	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA 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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACCCCCAACCCCTACCTCTG	0.677000									Pendred syndrome					22			7		0	0	1	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246165	145246165	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:145246165C>T	uc003lns.1	-	1	463	c.463G>A	c.(463-465)Gag>Aag	p.E155K		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	155										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						ATCAGAGACTCTTCCTCAGCC	0.443000														122			52		0	0	1	0	0
ZNF558	148156	broad.mit.edu	37	19	8922431	8922431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8922431G>A	uc002mkn.1	-	5	965	c.735C>T	c.(733-735)ttC>ttT	p.F245F	ZNF558_uc010xkh.1_Silent_p.F174F|ZNF558_uc010dwg.1_Silent_p.F245F	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						AACTGGTGCGGAAAACGTGAA	0.443000														52			29		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275534	152275534	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152275534C>T	uc001ezu.1	-	2	11864	c.11828G>A	c.(11827-11829)gGa>gAa	p.G3943E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3943	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGTATTCCTGAGTGATA	0.433000									Ichthyosis					88			46		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364297	5364297	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:5364297G>A	uc001map.1	-	0	458	c.458C>T	c.(457-459)tCc>tTc	p.S153F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.S153F	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAACAACGGATACAAATCC	0.443000														77			24		0	0	1	0	0
KCNK15	60598	broad.mit.edu	37	20	43379197	43379197	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43379197C>T	uc002xmr.3	+	1	775	c.711C>T	c.(709-711)gcC>gcT	p.A237A		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	Homo sapiens potassium channel, subfamily K, member 15 (KCNK15), mRNA.	237						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				TCATTGGCGCCTTCCTCAACC	0.706000														83			15		0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93528871	93528871	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:93528871C>T	uc002bsp.3	+	25	3956	c.3381C>T	c.(3379-3381)ctC>ctT	p.L1127L	CHD2_uc002bso.1_Silent_p.L1127L	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1127					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGAAGGACCTCGTGGAGGGAT	0.527000														137			82		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	70987106	70987106	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:70987106G>A	uc001jpf.4	+	1	340	c.207G>A	c.(205-207)agG>agA	p.R69R		NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	69					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCTTCGTCAGGGCCATTCCCG	0.582000														45			12		0	0	1	0	0
ZNF605	100289635	broad.mit.edu	37	12	133502373	133502373	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:133502373G>A	uc001uli.3	-	4	1831	c.1605C>T	c.(1603-1605)ccC>ccT	p.P535P	ZNF605_uc001ulh.3_Silent_p.P504P|ZNF605_uc001ulj.3_Silent_p.P504P	NM_001164715	NP_001158187	Q86T29	ZN605_HUMAN	Homo sapiens zinc finger protein 605 (ZNF605), transcript variant 2, mRNA.	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		TACATTCAAAGGGCTTTTCTC	0.428000														25			20		0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27788253	27788253	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:27788253C>T	uc003szl.3	+	1	292	c.110C>T	c.(109-111)aCc>aTc	p.T37I	TAX1BP1_uc011jzo.2_Missense_Mutation_p.T37I|TAX1BP1_uc003szk.3_Missense_Mutation_p.T37I|TAX1BP1_uc011jzp.2_5'UTR	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	37					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TGTCATTACACCTTAACTCCA	0.368000														48			11		0	0	1	0	0
ZNF584	201514	broad.mit.edu	37	19	58928497	58928497	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58928497C>T	uc002qsp.3	+	3	1064	c.612C>T	c.(610-612)ccC>ccT	p.P204P	ZNF584_uc010yia.2_Non-coding_Transcript|ZNF584_uc010yib.2_3'UTR	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	Homo sapiens zinc finger protein 584 (ZNF584), mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		ATATTAACCCCCGAAAAATTC	0.478000														42			12		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169589453	169589453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169589453C>T	uc011cjx.2	+	2	1232	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	PALLD_uc003iru.3_Missense_Mutation_p.R341C|PALLD_uc003irv.3_5'UTR	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	341	Ig-like C2-type 1.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CGACACAGGTCGCTACACCTG	0.522000									Pancreatic Cancer, Familial Clustering of					92			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062045	9062045	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9062045G>A	uc002mkp.3	-	2	25605	c.25401C>T	c.(25399-25401)ttC>ttT	p.F8467F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8469	Ser-rich.|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						GTGATATGGTGAACTGATCAG	0.493000														185			48		0	0	1	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41621803	41621803	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:41621803C>T	uc003azo.3	+	11	1416	c.1362C>T	c.(1360-1362)ctC>ctT	p.L454L	L3MBTL2_uc010gyi.1_Silent_p.L363L|L3MBTL2_uc003azn.3_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA.	454					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCCAGGTTCTCCTGGATGGAT	0.597000														44			17		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924799	188924799	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:188924799C>T	uc003izh.1	+	3	1246	c.838C>T	c.(838-840)Caa>Taa	p.Q280*	ZFP42_uc003izi.1_Nonsense_Mutation_p.Q280*|ZFP42_uc021xvm.1_Nonsense_Mutation_p.Q280*	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	280					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GTGTCCCTTTCAAGGCTGCAA	0.483000														34			24		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007673	6007673	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6007673C>T	uc001mcd.2	-	0	543	c.488G>A	c.(487-489)gGa>gAa	p.G163E		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	163					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)		CACCACCATTCCGATGCACCC	0.512000														85			6		0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33783919	33783919	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:33783919G>A	uc002rox.3	+	17	2513	c.1886G>A	c.(1885-1887)gGg>gAg	p.G629E	RASGRP3_uc010ync.2_Missense_Mutation_p.G629E|RASGRP3_uc002roy.3_Missense_Mutation_p.G628E	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	629					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GGGGACTCGGGGTCCCACACC	0.557000														73			20		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071103	240071103	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240071103G>A	uc021plc.1	+	0	352	c.352G>A	c.(352-354)Ggg>Agg	p.G118R	CHRM3_uc001hyp.3_Missense_Mutation_p.G118R	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	118					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TCTGATTATCGGGGTCATTTC	0.478000														51			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579835	179579835	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179579835G>A	uc021vsy.1	-	86	22571	c.22346C>T	c.(22345-22347)tCt>tTt	p.S7449F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4110F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8376	Ig-like 56.						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)			GAAGTTCTCAGACATTATCTT	0.453000														239			88		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247836280	247836280	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247836280C>T	uc001idi.1	-	0	64	c.64G>A	c.(64-66)Gga>Aga	p.G22R		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAGATAATTCCCTGGAGTTCA	0.423000														72			37		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	89495564	89495564	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:89495564G>A	uc021vkt.1	-	30		c.3375_splice	c.e30+1		abParts_uc021vku.1_Intron					Parts of antibodies, mostly variable regions.																		TAGCACTGTGGGAGGATCTTG	0.527000														56			8		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269982	150269982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150269982G>A	uc003whl.3	+	2	906	c.824G>A	c.(823-825)aGa>aAa	p.R275K	GIMAP4_uc011kuu.2_Missense_Mutation_p.R136K|GIMAP4_uc011kuv.2_Missense_Mutation_p.R289K	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	275							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGAAAAGAGAAAGAAGCAA	0.463000														49			20		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14561721	14561721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:14561721G>A	uc021wtn.1	-	9	1217	c.1217C>T	c.(1216-1218)tCg>tTg	p.S406L		NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	309					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CTCAAGCAGCGAGCAGTGTTC	0.647000														34			6		0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197889254	197889254	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197889254C>T	uc001guk.1	+	1	764	c.327C>T	c.(325-327)ctC>ctT	p.L109L	LHX9_uc001gui.1_Silent_p.L100L	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	109	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						AGTCCGAGCTCACCTGCTTTG	0.557000														328			21		0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5662644	5662644	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:5662644G>A	uc003sox.2	-	16	2878	c.2619C>T	c.(2617-2619)ttC>ttT	p.F873F	RNF216_uc010ksz.2_Silent_p.F438F|RNF216_uc010kta.2_Silent_p.F438F|RNF216_uc003soy.2_Silent_p.F816F|RNF216_uc011jwj.2_Silent_p.F438F	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	816					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GGAAGTTGTTGAACACAGGCC	0.652000														119			33		0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228210584	228210584	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228210584C>T	uc001hrp.2	+	1	395	c.288C>T	c.(286-288)gcC>gcT	p.A96A	WNT3A_uc001hrq.2_Silent_p.A96A	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	96					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				ACAGCCTGGCCATCTTCGGGC	0.652000														40			28		0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70118404	70118404	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70118404C>T	uc001opo.3	+	1	341	c.126C>T	c.(124-126)tcC>tcT	p.S42S	PPFIA1_uc001opn.2_Silent_p.S42S|PPFIA1_uc001opp.3_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	42					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGATGGTCTCCATGCTAGAAG	0.532000														104			20		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151835361	151835361	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:151835361C>T	uc010ipj.3	-	8	1391	c.1147G>A	c.(1147-1149)Ggc>Agc	p.G383S	LRBA_uc003ilu.4_Missense_Mutation_p.G383S|LRBA_uc010ipk.1_Missense_Mutation_p.G302S	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	383						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TATCCCAGGCCCAACTGATAA	0.393000														156			36		0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44800029	44800029	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44800029C>T	uc003tlr.3	+	8	1200	c.1077C>T	c.(1075-1077)acC>acT	p.T359T	ZMIZ2_uc003tlq.3_Silent_p.T301T|ZMIZ2_uc003tls.3_Silent_p.T333T|ZMIZ2_uc003tlt.3_5'UTR|ZMIZ2_uc010kyj.3_5'UTR	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	359	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TACAGCCTACCCGTTCCATCC	0.587000														73			7		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55087397	55087397	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55087397G>A	uc010ern.3	+	6	1545	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	LILRA1_uc002qgg.4_Missense_Mutation_p.G359E|LILRA1_uc002qgf.3_Missense_Mutation_p.G359E|LILRA1_uc010yfe.1_Missense_Mutation_p.G359E|LILRA1_uc010yff.1_Missense_Mutation_p.G347E|LILRA1_uc010ero.3_Missense_Mutation_p.G347E|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	361	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACCAAGGAGGGGGCAGGCCAT	0.617000														62			32		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46727878	46727878	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46727878G>A	uc003cqa.2	-	5	779	c.586C>T	c.(586-588)Ctg>Ttg	p.L196L	ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.L196L	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	196					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AAGGACTGCAGGTTCCCAAAG	0.617000														55			20		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70461449	70461449	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:70461449C>T	uc002lkw.3	-	5	826	c.542G>A	c.(541-543)gGa>gAa	p.G181E	NETO1_uc002lky.2_Missense_Mutation_p.G181E	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	181	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.G181R(2)|p.G181*(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTCCACAATTCCTTCGGAACC	0.428000														65			34		0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48055274	48055274	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:48055274C>T	uc010bek.3	+	8	1080	c.720C>T	c.(718-720)atC>atT	p.I240I	SEMA6D_uc001zvw.3_Silent_p.I240I|SEMA6D_uc001zvx.1_Silent_p.I240I|SEMA6D_uc001zvy.3_Silent_p.I240I|SEMA6D_uc001zvz.3_Silent_p.I240I|SEMA6D_uc001zwa.3_Silent_p.I240I|SEMA6D_uc001zwb.3_Silent_p.I240I|SEMA6D_uc001zwc.3_Silent_p.I240I	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	240	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTCGAGAAATCGCTGTCGAAC	0.358000														34			4		0	0	1	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74714335	74714335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:74714335G>A	uc001jtf.1	-	0	176	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	PLA2G12B_uc009xqt.1_5'UTR|PLA2G12B_uc010qjz.1_Missense_Mutation_p.R37W	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	Homo sapiens phospholipase A2, group XIIB (PLA2G12B), mRNA.	37					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					CGGAGGTGCCGAAGGCCCCAG	0.572000														157			64		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481842	140481842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140481842G>A	uc003lio.3	+	0	1609	c.1609G>A	c.(1609-1611)Ggc>Agc	p.G537S	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	537	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACAGACCGTGGCTCCCCGGC	0.677000														93			36		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32466746	32466746	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:32466746C>T	uc004dda.1	-	26	3857	c.3613G>A	c.(3613-3615)Gaa>Aaa	p.E1205K	DMD_uc004dcz.2_Missense_Mutation_p.E1082K|DMD_uc004dcy.1_Missense_Mutation_p.E1201K|DMD_uc004ddb.1_Missense_Mutation_p.E1197K|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1205					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	p.N1204K(1)		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)				TGGGCCTCTTCTTTAGCTCTC	0.348000														26			25		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55782877	55782877	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:55782877G>A	uc010qhy.1	-	19	2711	c.2316C>T	c.(2314-2316)tcC>tcT	p.S772S	PCDH15_uc010qhq.2_Silent_p.S772S|PCDH15_uc010qhr.2_Silent_p.S767S|PCDH15_uc021pqv.1_Silent_p.S767S|PCDH15_uc021pqw.1_Silent_p.S779S|PCDH15_uc010qht.2_Silent_p.S774S|PCDH15_uc021pqx.1_Silent_p.S767S|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.S767S|PCDH15_uc021pqz.1_Silent_p.S745S|PCDH15_uc010qhv.1_Silent_p.S767S|PCDH15_uc010qhw.1_Silent_p.S730S|PCDH15_uc010qhx.1_Silent_p.S696S|PCDH15_uc010qhz.1_Silent_p.S767S|PCDH15_uc010qia.1_Silent_p.S745S|PCDH15_uc001jju.1_Silent_p.S767S|PCDH15_uc010qib.1_Silent_p.S745S|PCDH15_uc001jjw.3_Silent_p.S767S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	767	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)				TGCTCCCATTGGATGTGATAC	0.393000										HNSCC(58;0.16)				75			6		0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364623	29364623	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29364623C>T	uc003nmf.4	+	0	208	c.147C>T	c.(145-147)tcC>tcT	p.S49S		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTGTCATCTCCGATCCTAGAC	0.458000														97			23		0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75167505	75167505	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:75167505G>A	uc003uds.2	-	30	3147	c.3102C>T	c.(3100-3102)acC>acT	p.T1034T	HIP1_uc011kfz.2_Silent_p.T983T	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	1034					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ATTCTTTTTCGGTTACCACTT	0.418000			T	PDGFRB	CMML									200			10		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028279	21028279	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:21028279C>T	uc010sil.2	+	6	903	c.838C>T	c.(838-840)Ccg>Tcg	p.P280S	SLCO1B3_uc001rek.3_Missense_Mutation_p.P280S|SLCO1B3_uc001rel.3_Missense_Mutation_p.P280S|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	280					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	p.P280P(1)		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)					TTTTTTCTTGCCGAAAAATCC	0.348000														84			24		0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62372641	62372641	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62372641G>A	uc010rly.1	-	15	2234	c.1926C>T	c.(1924-1926)ctC>ctT	p.L642L	EML3_uc001ntr.1_Silent_p.L614L|EML3_uc001nts.1_Silent_p.L614L|EML3_uc001ntt.1_Silent_p.L526L|EML3_uc001ntu.1_Silent_p.L642L			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	642						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGTCAGCACAGAGACCAGTCT	0.562000														61			33		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815501	106815501	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:106815501C>T	uc003ymd.3	+	7	3214	c.3191C>T	c.(3190-3192)tCc>tTc	p.S1064F	ZFPM2_uc011lhs.2_Missense_Mutation_p.S795F	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	1064					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAGAACATTTCCCAGAATCCT	0.483000														27			8		0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6750520	6750520	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:6750520C>T	uc003jdx.1	+	9	1143	c.1014C>T	c.(1012-1014)ccC>ccT	p.P338P	PAPD7_uc011cmn.2_Silent_p.P338P|PAPD7_uc010itl.1_Silent_p.P158P	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	338					DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding	p.P338P(2)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCGAGTCTCCCTATGGCCAGC	0.552000														57			25		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44064780	44064780	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:44064780C>T	uc003bdy.2	-	15	2100	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	EFCAB6_uc003bdz.2_Missense_Mutation_p.E444K|EFCAB6_uc010gzi.2_Missense_Mutation_p.E444K|EFCAB6_uc010gzj.1_5'Flank|EFCAB6_uc010gzk.1_Non-coding_Transcript	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGCTGCTGTTCATCTTTTTGT	0.388000														134			13		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41143071	41143071	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:41143071C>T	uc003jmk.2	-	17	2871	c.2661G>A	c.(2659-2661)caG>caA	p.Q887Q	C6_uc003jml.1_Silent_p.Q887Q	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	887	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				CCTTGAAGCACTGTGGGGGCA	0.433000														51			25		0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1325381	1325382	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:1325381_1325382GG>AA	uc004cpk.2	-	2	295_296	c.293_294CC>TT	c.(292-294)tcc>tTT	p.S98F	CRLF2_uc022brt.1_Missense_Mutation_p.S98F|CRLF2_uc004cpl.2_5'UTR|CRLF2_uc022brs.1_Missense_Mutation_p.S98F	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	98						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CATTCCTGATGGAGAAATAGAG	0.510000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									98			19		0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172428810	172428810	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:172428810G>A	uc011bpx.2	-	0	199	c.61C>T	c.(61-63)Ctt>Ttt	p.L21F	NCEH1_uc003fig.3_Missense_Mutation_p.L21F|NCEH1_uc011bpw.2_5'UTR|NCEH1_uc011bpy.2_5'UTR	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	0					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GGCTGGCAAAGAGGAAAGGGC	0.627000											OREG0015927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			22		0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27949610	27949610	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27949610C>T	uc001boj.3	-	1	418	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	FGR_uc001bok.3_Missense_Mutation_p.R91Q|FGR_uc001bol.3_Missense_Mutation_p.R91Q|FGR_uc001bom.3_Missense_Mutation_p.R91Q	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	91	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATCCTCAGTTCGAGCCTCATA	0.562000														36			12		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123599966	123599966	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:123599966C>T	uc003vle.3	+	4	1912	c.1473C>T	c.(1471-1473)gcC>gcT	p.A491A	SPAM1_uc011koa.1_Silent_p.A147A|SPAM1_uc003vld.3_Silent_p.A491A|SPAM1_uc022aks.1_Silent_p.A491A|SPAM1_uc003vlf.4_Silent_p.A491A|SPAM1_uc010lku.3_Silent_p.A491A	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	491					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)	CACTATCTGCCACAATGTTCA	0.373000														74			33		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135613910	135613910	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:135613910G>A	uc003yup.3	-	5	2238	c.2052C>T	c.(2050-2052)ctC>ctT	p.L684L	ZFAT_uc003yun.3_Silent_p.L672L|ZFAT_uc003yuo.3_Silent_p.L672L|ZFAT_uc010meh.3_Silent_p.L672L|ZFAT_uc010mej.3_Silent_p.L622L|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.L672L|ZFAT_uc003yur.3_Silent_p.L672L	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	684					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			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)			CTGGAGGGAGGAGGTCTGAGG	0.597000														77			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061161	9061161	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9061161G>A	uc002mkp.3	-	2	26489	c.26285C>T	c.(26284-26286)tCa>tTa	p.S8762L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8764	Ser-rich.|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						GATTTCTGGTGATATTGTGGA	0.502000														80			20		0	0	1	0	0
LHX6	26468	broad.mit.edu	37	9	124979518	124979518	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:124979518C>T	uc004blx.4	-	4	583	c.511G>A	c.(511-513)Gac>Aac	p.D171N	LHX6_uc022bmw.1_5'UTR|LHX6_uc010mvw.3_Missense_Mutation_p.D142N|LHX6_uc022bmx.1_Missense_Mutation_p.D160N|LHX6_uc004bly.4_Missense_Mutation_p.D171N	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	Homo sapiens LIM homeobox 6 (LHX6), transcript variant 1, mRNA.	142	LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						CGCACCCAGTCGCTGGCGTAG	0.662000														24			19		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160094107	160094107	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160094107G>A	uc001fvc.3	+	5	649	c.517G>A	c.(517-519)Gga>Aga	p.G173R	ATP1A2_uc001fvb.2_Missense_Mutation_p.G173R|ATP1A2_uc010piz.1_Missense_Mutation_p.G18R	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	173					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GATCCGGGAGGGAGAGAAGAT	0.597000														14			7		0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6716194	6716194	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:6716194C>T	uc002gdt.3	-	5	918	c.808G>A	c.(808-810)Gat>Aat	p.D270N	TEKT1_uc010vth.2_Missense_Mutation_p.D124N	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	270					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCCTTTGTATCCTTCAGCCCA	0.537000														75			49		0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160917778	160917778	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160917778C>T	uc001fxd.3	-	6	824	c.766G>A	c.(766-768)Gag>Aag	p.E256K	ITLN2_uc009wts.3_Missense_Mutation_p.E255K|ITLN2_uc010pju.2_Missense_Mutation_p.E173K	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	256	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCTGCTCTCTCGTTATTAAAC	0.463000														96			12		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959893	157959893	+	Missense_Mutation	SNP	C	T	T	rs144856548	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:157959893C>T	uc003wno.3	-	5	761	c.640G>A	c.(640-642)Gag>Aag	p.E214K	PTPRN2_uc003wnp.3_Missense_Mutation_p.E197K|PTPRN2_uc003wnq.3_Missense_Mutation_p.E214K|PTPRN2_uc003wnr.3_Missense_Mutation_p.E176K|PTPRN2_uc011kwa.2_Missense_Mutation_p.E237K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	214						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGAGGTCCTCGCGGAGCTGG	0.647000														51			20		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151304045	151304045	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151304045A>G	uc022cgz.1	-	0	48	c.48T>C	c.(46-48)ctT>ctC	p.L16L	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.L16L|MAGEA10_uc004ffm.2_Silent_p.L16L|MAGEA10_uc004ffl.3_Silent_p.L16L	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	16								p.L16R(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGGGATTGAAGATCTTCTT	0.572000														29			29		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30963132	30963132	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:30963132C>T	uc003tbv.2	+	3	808	c.698C>T	c.(697-699)cCa>cTa	p.P233L	FAM188B_uc011kac.1_Missense_Mutation_p.P293L|FAM188B_uc010kwf.1_Missense_Mutation_p.P150L|FAM188B_uc010kwh.1_Missense_Mutation_p.P182L|FAM188B_uc022abh.1_Missense_Mutation_p.P118L	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCCTGGCCCCACGCAGCAGT	0.597000														28			19		0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63700140	63700140	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:63700140G>A	uc001jlt.2	+	2	931	c.475G>A	c.(475-477)Gac>Aac	p.D159N	ARID5B_uc010qil.2_Missense_Mutation_p.D159N	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	159					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)					CAACTTCAAAGACGTTCTCAA	0.438000														26			5		0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84255861	84255861	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:84255861G>A	uc003hoj.4	-	0	174	c.75C>T	c.(73-75)tcC>tcT	p.S25S	HPSE_uc003hoi.3_Silent_p.S25S|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_5'UTR|HPSE_uc003hok.4_Silent_p.S25S|HPSE_uc011cct.2_Silent_p.S25S|HPSE_uc021xpr.1_Silent_p.S25S	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	25					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GGGCGCCAGGGGAGAGGGGAC	0.711000														3			5		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115964637	115964637	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115964637G>A	uc001lbg.1	+	9	1435	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K	TDRD1_uc001lbf.3_Missense_Mutation_p.E419K|TDRD1_uc001lbh.1_Missense_Mutation_p.E419K|TDRD1_uc001lbi.1_Missense_Mutation_p.E419K|TDRD1_uc010qsc.2_Missense_Mutation_p.E89K|TDRD1_uc001lbj.3_Missense_Mutation_p.E137K	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	428					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGTAGAAGTTGAGCTGCCAAA	0.383000														72			28		0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35224069	35224069	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:35224069G>A	uc001wsk.3	-	25	5006	c.4438C>T	c.(4438-4440)Cgt>Tgt	p.R1480C	BAZ1A_uc001wsl.3_Missense_Mutation_p.R1448C	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	1480	Bromo.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		ACTTTTTCACGAATTATATTT	0.284000														39			19		0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1459186	1459186	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:1459186C>T	uc002wfg.2	-	2	746	c.518G>A	c.(517-519)gGa>gAa	p.G173E	SIRPB2_uc002wfh.3_Missense_Mutation_p.G75E|SIRPB2_uc010zpr.1_Missense_Mutation_p.G35E	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA.	173	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GACAGTGTCTCCAGTGGTCCC	0.577000														50			19		0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26012982	26012982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:26012982G>A	uc001bkm.2	+	1	922	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	MAN1C1_uc009vry.1_Missense_Mutation_p.E18K	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	198					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.E198K(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GGGGAAAAACGAACTCCGTCC	0.498000														141			59		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13692161	13692161	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13692161G>A	uc003jfd.2	-	78	13849	c.13807C>T	c.(13807-13809)Ctc>Ttc	p.L4603F	DNAH5_uc003jfc.2_Missense_Mutation_p.L771F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4603					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)					GCTGTCCTGAGATCCACAGCG	0.502000									Kartagener syndrome					75			32		0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24808358	24808358	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24808358G>A	uc001wpb.3	-	2	544	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	RIPK3_uc001wpa.3_5'Flank|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.R112W	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	112	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GGCCAGGGCCGAGGGCACTGG	0.602000														59			29		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58155415	58155415	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58155415C>T	uc003djj.2	+	44	7681	c.7516C>T	c.(7516-7518)Ccc>Tcc	p.P2506S	FLNB_uc010hne.2_Missense_Mutation_p.P2537S|FLNB_uc003djk.2_Missense_Mutation_p.P2495S|FLNB_uc010hnf.2_Missense_Mutation_p.P2482S|FLNB_uc003djl.2_Missense_Mutation_p.P2326S|FLNB_uc003djm.2_Missense_Mutation_p.P2313S|BC041347_uc003djn.3_Intron	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2506	Hinge 2 (By similarity).|Interaction with INPPL1.|Self-association site, tail (By similarity).				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TAGCGCCATTCCCAAGGCATC	0.587000														101			49		0	0	1	0	0
RNASE11	122651	broad.mit.edu	37	14	21052444	21052444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21052444G>A	uc010ahw.3	-	2	526	c.190C>T	c.(190-192)Ctc>Ttc	p.L64F	RNASE11_uc010ahv.3_Missense_Mutation_p.L64F|RNASE11_uc010ahx.3_Missense_Mutation_p.L64F|RNASE11_uc001vxs.3_Missense_Mutation_p.L64F|RNASE11_uc021rnu.1_Missense_Mutation_p.L64F	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Homo sapiens ribonuclease, RNase A family, 11 (non-active) (RNASE11), mRNA.	64						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GACATGCTGAGGCTGGTATTT	0.393000														258			90		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19498517	19498517	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:19498517C>T	uc002dgc.4	+	16	3191	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	TMC5_uc010vaq.2_Silent_p.I762I|TMC5_uc002dgb.4_Silent_p.I814I|TMC5_uc010var.2_Silent_p.I814I|TMC5_uc002dgd.1_Silent_p.I568I|TMC5_uc002dge.4_Silent_p.I568I|TMC5_uc002dgf.4_Silent_p.I497I|TMC5_uc002dgg.4_Silent_p.I455I	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	814						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						CTCTTCAGATCAGCCTGATGA	0.587000														49			15		0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41246011	41246011	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:41246011G>A	uc002icq.3	-	9	1769	c.1537C>T	c.(1537-1539)Cat>Tat	p.H513Y	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.H442Y|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.H466Y|BRCA1_uc002ict.3_Missense_Mutation_p.H513Y|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.H513Y|BRCA1_uc002ide.1_Missense_Mutation_p.H344Y|BRCA1_uc010cyy.1_Missense_Mutation_p.H513Y|BRCA1_uc010whs.1_Missense_Mutation_p.H513Y|BRCA1_uc010cyz.2_Missense_Mutation_p.H466Y|BRCA1_uc010cza.2_Missense_Mutation_p.H487Y|BRCA1_uc010wht.1_Missense_Mutation_p.H217Y	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	513					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCCTCAGGATGAAGGCCTGAT	0.388000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				29			13		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68939473	68939473	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:68939473G>A	uc003xxv.1	+	4	485	c.458G>A	c.(457-459)gGa>gAa	p.G153E	PREX2_uc003xxu.1_Missense_Mutation_p.G153E|PREX2_uc011lez.1_Missense_Mutation_p.G88E	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	153	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATGCTGCTTGGAGGACGGAAG	0.348000														76			29		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3046493	3046493	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:3046493G>A	uc022aqr.1	-	34	5829	c.5439C>T	c.(5437-5439)atC>atT	p.I1813I	CSMD1_uc011kwj.2_Silent_p.I1206I|CSMD1_uc003wqe.3_Silent_p.I970I|CSMD1_uc010lrg.3_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1814	CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGGGGGACAGGATTGTACCTC	0.463000														20			6		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42695407	42695407	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:42695407G>A	uc010ggo.3	+	7	1434	c.1394G>A	c.(1393-1395)gGa>gAa	p.G465E	TOX2_uc002xle.4_Missense_Mutation_p.G423E|TOX2_uc010ggp.3_Missense_Mutation_p.G423E|TOX2_uc002xlf.4_Missense_Mutation_p.G447E|TOX2_uc010zwk.2_Missense_Mutation_p.G343E	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCAGCTCGGGATCCTGCTCA	0.632000														107			43		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75017841	75017841	+	Missense_Mutation	SNP	G	A	A	rs147534770		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:75017841G>A	uc001xqa.3	-	6	1999	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	538					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCAGTGGCCGAGGGGGCTCT	0.667000														51			15		0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47767944	47767944	+	Missense_Mutation	SNP	G	A	A	rs147160336	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47767944G>A	uc001crd.1	-	3	382	c.227C>T	c.(226-228)tCg>tTg	p.S76L	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S76L|STIL_uc010omo.1_Missense_Mutation_p.S76L|STIL_uc001crc.1_Missense_Mutation_p.S76L|STIL_uc001cre.1_Missense_Mutation_p.S76L|STIL_uc001crg.1_Missense_Mutation_p.S76L	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	76					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)				AAAGCATGACGAATTTTTTTT	0.413000														66			21		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21245915	21245915	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21245915C>T	uc002red.3	-	18	2733	c.2605_splice	c.e18-1	p.M869_splice		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	869					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGCCTGCATCTATAAGTCAG	0.473000														72			29		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670531	49670531	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:49670531C>T	uc002efs.3	-	4	2830	c.2532G>A	c.(2530-2532)ggG>ggA	p.G844G	ZNF423_uc010vgn.2_Silent_p.G727G	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	844					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGGGGGTACCCCATTGGCCG	0.597000														27			10		0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80718764	80718764	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:80718764G>A	uc002ffs.3	-	1	392	c.287C>T	c.(286-288)cCt>cTt	p.P96L		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	96						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						GCTCTTTCCAGGATCTGAAGG	0.547000														50			8		0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148601507	148601507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:148601507G>A	uc003ewm.3	+	8	938	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	296					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CCACCTGAATGAAATCAAGGT	0.443000														77			34		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207639872	207639872	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207639872G>A	uc001hfw.3	+	2	178	c.59_splice	c.e2-1	p.G20_splice	CR2_uc001hfv.3_Splice_Site_p.G20_splice|CR2_uc009xch.3_Splice_Site_p.G20_splice	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	20					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ACTTTTCAGGGATTTCTTGTG	0.383000														186			66		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26702046	26702046	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26702046G>A	uc003acb.3	+	5	1646	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	SEZ6L_uc003acd.3_Missense_Mutation_p.E484K|SEZ6L_uc011akd.2_Missense_Mutation_p.E484K|SEZ6L_uc003ace.3_Missense_Mutation_p.E484K|SEZ6L_uc011akc.2_Missense_Mutation_p.E484K|SEZ6L_uc003acc.3_Missense_Mutation_p.E484K|SEZ6L_uc003acf.1_Missense_Mutation_p.E257K|SEZ6L_uc010gvc.1_Missense_Mutation_p.E257K	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	484	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTGGACGATTGAAGCTCCAGA	0.552000														57			26		0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113740500	113740500	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:113740500C>T	uc001vsu.3	+	20	2481	c.2481C>T	c.(2479-2481)tcC>tcT	p.S827S	MCF2L_uc001vsq.3_Silent_p.S827S|MCF2L_uc010tjr.2_Silent_p.S770S|MCF2L_uc001vsr.3_Silent_p.S774S|MCF2L_uc001vss.4_Silent_p.S768S|MCF2L_uc010tjs.2_Silent_p.S768S|MCF2L_uc001vst.1_Silent_p.S732S	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	800					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CGCTGAGCTCCATCCTGGGCA	0.637000														32			15		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104067702	104067702	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:104067702G>A	uc001tjw.3	+	22	2575	c.2389G>A	c.(2389-2391)Gga>Aga	p.G797R		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	797					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.H796Q(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGCGTTCACGGAACATGCAA	0.592000														47			12		0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20825709	20825709	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:20825709G>A	uc002zsl.2	-	2	478	c.321C>T	c.(319-321)ttC>ttT	p.F107F	KLHL22_uc011ahr.2_Intron	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	107	BTB.				cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGGTGTATATGAAATGTAGGA	0.512000														84			45		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540532	94540532	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94540532C>T	uc003unp.3	+	1	1389	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	PPP1R9A_uc010lfj.3_Silent_p.F369F|PPP1R9A_uc011kif.2_Silent_p.F369F|PPP1R9A_uc003unq.3_Silent_p.F369F|PPP1R9A_uc011kig.2_Silent_p.F369F	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	369						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)			GTGGTGATTTCACCTCTCCTG	0.433000										HNSCC(28;0.073)				56			32		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813932	106813932	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:106813932G>A	uc003ymd.3	+	7	1645	c.1622G>A	c.(1621-1623)aGc>aAc	p.S541N	ZFPM2_uc011lhs.2_Missense_Mutation_p.S272N	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	541					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GTCATTTACAGCCCTTTGATG	0.453000														95			53		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52284496	52284496	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:52284496C>T	uc003xqu.4	-	18	3939	c.3838G>A	c.(3838-3840)Gat>Aat	p.D1280N	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1280					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTCAGGTAATCCTGTGGGTAT	0.522000														23			7		0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70820186	70820186	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:70820186A>C	uc002ezm.3	-	1	445	c.187T>G	c.(187-189)Tct>Gct	p.S63A	VAC14_uc010cfw.3_Intron|VAC14_uc002ezn.3_5'UTR|TRNA_Gly_uc021tko.1_5'Flank	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	63					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GGGTGCTGAGACAGGGCAAAC	0.612000														76			33		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192594	152192595	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152192594_152192595CC>TT	uc001ezt.1	-	2	1586_1587	c.1510_1511GG>AA	c.(1510-1512)ggt>AAt	p.G504N		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	504					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCGTTCACCCCTAGATGAC	0.550000														336			108		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9098546	9098546	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:9098546G>A	uc001apo.3	-	9	1410	c.1118C>T	c.(1117-1119)cCa>cTa	p.P373L	SLC2A5_uc010nzy.2_Missense_Mutation_p.P314L|SLC2A5_uc010nzz.2_Missense_Mutation_p.P258L|SLC2A5_uc010oaa.2_Missense_Mutation_p.P329L	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	373					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	p.P373A(1)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGATGTATGGCATCCAGGA	0.607000														17			10		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48413859	48413859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48413859C>T	uc001jfa.1	-	1	1169	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	337					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.F336F(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCGATGTCCTCGAAGTTTACC	0.612000														80			28		0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119053036	119053036	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:119053036C>T	uc001pvu.3	+	8	2803	c.2588C>T	c.(2587-2589)cCt>cTt	p.P863L	NLRX1_uc001pvv.3_Missense_Mutation_p.P863L|NLRX1_uc001pvw.3_Missense_Mutation_p.P863L|NLRX1_uc001pvx.3_Missense_Mutation_p.P863L	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	863	Required for the repression of MAVS- induced interferon signaling.				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)		CGGGAGCACCCTTCCCTGGAA	0.637000														105			24		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879303	3879303	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:3879303C>T	uc002kmf.3	-	3	1293	c.766G>A	c.(766-768)Gac>Aac	p.D256N	DLGAP1_uc010wyz.2_Missense_Mutation_p.D256N|DLGAP1_uc002kmk.2_Missense_Mutation_p.D256N|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	256					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CACTTGACGTCGTTGTTGCTC	0.672000														51			17		0	0	1	0	0
SLC25A38	54977	broad.mit.edu	37	3	39433010	39433010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:39433010C>T	uc003cjo.2	+	3	756	c.355C>T	c.(355-357)Cat>Tat	p.H119Y		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	Homo sapiens solute carrier family 25, member 38 (SLC25A38), nuclear gene encoding mitochondrial protein, mRNA.	119					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTTGCGAGGCCATCCCCCAAC	0.532000														341			28		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37256298	37256298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:37256298C>T	uc022abv.1	-	10	1493	c.783G>A	c.(781-783)gaG>gaA	p.E261E	ELMO1_uc011kbc.2_Silent_p.E165E|ELMO1_uc003tfk.2_Silent_p.E261E|ELMO1_uc010kxg.2_Silent_p.E261E	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	261					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TATTCGCCATCTCCTGTGGAA	0.478000														69			31		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142237983	142237983	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:142237983C>T	uc002tvj.1	-	2	1297	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	109	LDL-receptor class A 2.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTACTCCTTCGTCATACCCA	0.413000										TSP Lung(27;0.18)				54			12		0	0	1	0	0
MIP	4284	broad.mit.edu	37	12	56847477	56847477	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:56847477G>A	uc001slh.3	-	1	461	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_012064	NP_036196	P30301	MIP_HUMAN	Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.	141					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						TGCAGAGCACGAACTGGAGCG	0.607000														27			19		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56899349	56899349	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:56899349G>A	uc002ekd.4	+	0	231	c.202G>A	c.(202-204)Gag>Aag	p.E68K	SLC12A3_uc010ccm.3_Missense_Mutation_p.E68K|SLC12A3_uc010ccn.3_Missense_Mutation_p.E68K	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	68			E -> K (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCCCACATATGAGCACTATGC	0.592000														109			37		0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541302	40541302	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40541302A>G	uc002omu.3	-	4	1529	c.1464T>C	c.(1462-1464)ctT>ctC	p.L488L	ZNF780B_uc002omv.3_Silent_p.L340L	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q487Q(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGTCGAGCAAGCTGTGTCA	0.403000														103			32		0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120979048	120979048	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:120979048G>A	uc003vjw.3	+	3	1004	c.747G>A	c.(745-747)ttG>ttA	p.L249L	WNT16_uc003vjv.3_Silent_p.L239L|WNT16_uc010lkl.3_Silent_p.L33L	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	249					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GCCATTTGTTGAAGGATAAAT	0.413000														44			22		0	0	1	0	0
PLAU	5328	broad.mit.edu	37	10	75674610	75674610	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:75674610G>A	uc001jwa.3	+	8	1052	c.906G>A	c.(904-906)tcG>tcA	p.S302S	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Silent_p.S285S|PLAU_uc010qkx.2_Silent_p.S216S|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Silent_p.S302S|PLAU_uc009xrq.1_Silent_p.S266S	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	302	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	GCCTGCCCTCGATGTATAACG	0.527000														43			19		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99438729	99438729	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:99438729G>A	uc002szf.1	-	6	2301	c.2007C>T	c.(2005-2007)gcC>gcT	p.A669A		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	669										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						GCTCCTGGGCGGCTGGGCAGG	0.736000														17			3		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38106446	38106446	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38106446C>T	uc003atr.3	+	3	398	c.127C>T	c.(127-129)Cct>Tct	p.P43S	TRIOBP_uc003atu.3_5'UTR|TRIOBP_uc003atq.1_Missense_Mutation_p.P43S|TRIOBP_uc003ats.1_5'UTR	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	43					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCTCAGGAGCCCTTCAGGTGC	0.687000														26			14		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572149	140572149	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140572149C>T	uc003lix.3	+	0	198	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	8					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTGTGCTTCCCAAGACAAA	0.473000														158			58		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031966	33031966	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:33031966C>T	uc001rlj.4	-	2	339	c.224_splice	c.e2-1	p.G75_splice	PKP2_uc001rlk.4_Splice_Site_p.G75_splice|PKP2_uc010skj.2_Splice_Site_p.G75_splice	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	75					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTGAAGATTTCCTGCAATCAA	0.333000														42			5		0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42584550	42584550	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42584550C>T	uc002osk.4	+	1	2297	c.2062C>T	c.(2062-2064)Cgc>Tgc	p.R688C	ZNF574_uc002osm.4_Missense_Mutation_p.R598C|ZNF574_uc021uva.1_Missense_Mutation_p.R598C	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	598	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GCTCATGCACCGCTACCATCA	0.622000														39			12		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	107914337	107914337	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:107914337C>T	uc001tmk.1	+	1	1730	c.1209C>T	c.(1207-1209)ccC>ccT	p.P403P	BTBD11_uc009zut.1_Silent_p.P403P|BTBD11_uc001tmj.3_Silent_p.P403P	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	403						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGGAACTGCCCATGTTCAGCC	0.567000														128			13		0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402533	248402533	+	Silent	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248402533A>C	uc010pzh.2	+	0	303	c.303A>C	c.(301-303)atA>atC	p.I101I		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			GAACTCAGATATTCTTCTATG	0.463000														84			39		0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129909563	129909563	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:129909563C>T	uc003vpq.3	+	2	227	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S	CPA2_uc011kpc.1_Missense_Mutation_p.P70S	NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	70					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CGTCCGAGTTCCCTTCGTCAA	0.498000														98			17		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28918362	28918362	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28918362G>A	uc002kwp.3	+	9	1562	c.1350G>A	c.(1348-1350)aaG>aaA	p.K450K		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	450	Cadherin 4.				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)			AAGTTACCAAGGAACAGTACA	0.338000														68			21		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156997953	156997953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156997953C>T	uc003lwz.3	-	1	209	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	ADAM19_uc003lww.2_5'UTR|ADAM19_uc011ddr.1_5'UTR	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	44					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGATAAGTTCATGCTGCAGC	0.483000														70			33		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90016808	90016808	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:90016808G>A	uc003kju.3	+	44	9776	c.9680G>A	c.(9679-9681)cGa>cAa	p.R3227Q	GPR98_uc003kjt.3_Missense_Mutation_p.R933Q|GPR98_uc003kjv.3_Missense_Mutation_p.R827Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3227					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.R3227*(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATGTATCTCGAACTAATGGC	0.393000														114			51		0	0	1	0	0
KBTBD11	9920	broad.mit.edu	37	8	1950698	1950698	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:1950698C>T	uc022aqq.1	+	0	1340	c.1340C>T	c.(1339-1341)gCc>gTc	p.A447V	KBTBD11_uc003wpw.4_Missense_Mutation_p.A447V	NM_014867	NP_055682	O94819	KBTBB_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 11 (KBTBD11), mRNA.	447										lung(1)|pancreas(1)	2		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134)		ggcgccTTCGCCGTGGCGCAT	0.736000														9			3		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135673	156135673	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:156135673C>T	uc003ioq.3	+	1	1071	c.582C>T	c.(580-582)atC>atT	p.I194I	NPY2R_uc003ior.3_Silent_p.I194I|NPY2R_uc021xtm.1_Silent_p.I194I	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	194					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGATTGAGATCATCCCGGACT	0.517000														102			48		0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35332721	35332721	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:35332721G>A	uc001byc.3	-	8	2649	c.2649C>T	c.(2647-2649)atC>atT	p.I883I		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	883					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.I883M(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCACATCCTCGATGGAGAGCT	0.582000											OREG0013353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		128			55		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098545	144098545	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:144098545G>A	uc022aoj.1	-	3	438	c.438C>T	c.(436-438)gtC>gtT	p.V146V		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	146					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTTCTCCAGAGACTGCTGGCG	0.647000														35			19		0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154183798	154183798	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:154183798C>T	uc003lvo.3	+	13	2270	c.2246C>T	c.(2245-2247)cCa>cTa	p.P749L	LARP1_uc021ygh.1_Missense_Mutation_p.P621L	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	826							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGTTCAAACCCACCCTTGGAG	0.532000														117			42		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093784	30093784	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:30093784C>T	uc010dmc.3	+	0		c.2159C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		GGCCTCTGTTCACAACAGTAG	0.413000														11			4		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7569464	7569464	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7569464G>A	uc003mxp.1	+	11	1744	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	DSP_uc003mxq.1_Missense_Mutation_p.E489K|DSP_uc021yle.1_Missense_Mutation_p.E489K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	489	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		GGACAACAACGAGCGCAGCAA	0.527000														98			39		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115130449	115130449	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:115130449G>A	uc001efd.1	-	18	3258	c.2556C>T	c.(2554-2556)ttC>ttT	p.F852F	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Silent_p.F795F	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	852	dDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		GGGACTTACGGAATGGTTCCC	0.483000														49			17		0	0	1	0	0
ZNF622	90441	broad.mit.edu	37	5	16463747	16463747	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:16463747G>A	uc003jfq.3	-	1	850	c.730C>T	c.(730-732)Cca>Tca	p.P244S		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	Homo sapiens zinc finger protein 622 (ZNF622), mRNA.	244						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCAAGGGGTGGGCCTTCCTCA	0.488000														229			69		0	0	1	0	0
WFDC10B	280664	broad.mit.edu	37	20	44333618	44333618	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44333618C>T	uc002xpc.3	-	0	41	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	WFDC10B_uc002xpb.3_5'UTR|WFDC13_uc002xpd.3_Intron	NM_172131	NP_742143	Q8IUB3	WF10B_HUMAN	Homo sapiens WAP four-disulfide core domain 10B (WFDC10B), transcript variant 2, mRNA.	0						extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				GCCCTCCTTTCACAAGACACC	0.488000														147			38		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19760574	19760574	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19760574G>A	uc002nnh.4	-	17	2539	c.2511C>T	c.(2509-2511)ttC>ttT	p.F837F	ATP13A1_uc002nne.3_5'UTR|ATP13A1_uc002nnf.4_Silent_p.F205F|ATP13A1_uc002nng.3_Silent_p.F719F	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	837					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCACACGGGCGAACACCTGCA	0.672000														63			10		0	0	1	0	0
SPRY3	10251	broad.mit.edu	37	X	155004272	155004272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:155004272C>T	uc022cio.1	+	0	739	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	SPRY3_uc004fnq.1_Silent_p.L247L	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	247	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGCCTCCATCTGTGCCAACA	0.587000														170			82		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40363885	40363885	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40363885C>T	uc002omp.4	-	30	14765	c.14757G>A	c.(14755-14757)gtG>gtA	p.V4919V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4919	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAGCTAGGCTCACAACCTGGC	0.607000														49			17		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562736	11562736	+	Splice_Site	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11562736C>G	uc001ash.4	+	3	1235	c.1097_splice	c.e3-1	p.G366_splice	PTCHD2_uc001asi.1_Splice_Site_p.G366_splice	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	366					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)		TCCTTGCAGGCTCCCTGGAGC	0.607000														17			11		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100226909	100226909	+	Silent	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:100226909C>G	uc001pga.3	+	24	3765	c.3261C>G	c.(3259-3261)gtC>gtG	p.V1087V	CNTN5_uc021qpb.1_Silent_p.V1087V|CNTN5_uc021qpc.1_Silent_p.V1013V|CNTN5_uc010ruk.2_Silent_p.V358V	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	1087					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CGTCATCAGTCACCTTGCTCT	0.418000														20			6		0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125487019	125487019	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125487019C>T	uc004bmu.1	+	0	751	c.751C>T	c.(751-753)Ctg>Ttg	p.L251L		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGTAGTGGTCCTGTTCTATGG	0.522000														133			12		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8807901	8807902	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8807901_8807902CC>TT	uc002mkl.2	-	0	1271_1272	c.1150_1151GG>AA	c.(1150-1152)ggc>AAc	p.G384N		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	384						cytoplasm|cytoskeleton		p.G384S(2)		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						CAGGATGGAGCCCCCGATCCAT	0.649000														44			14		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149449834	149449834	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149449834G>A	uc003lrl.3	-	7	1425	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	CSF1R_uc011dcd.2_Silent_p.F262F|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.F410F	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	410	Ig-like C2-type 5.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGCCGTTGATGAATGTCCATA	0.572000														48			17		0	0	1	0	0
IFNA22P	3453	broad.mit.edu	37	9	21278379	21278379	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:21278379G>A	uc003zou.1	-	0		c.184C>T								Homo sapiens interferon, alpha 22, pseudogene (IFNA22P), non-coding RNA.																		TCATCTCATGGAAAAGGAAGA	0.423000														33			13		0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17029467	17029467	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:17029467C>T	uc001azn.1	-	6	899	c.785_splice	c.e6-1	p.G262_splice						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		GCTGGAAAGCCCTGGGGAGGC	0.577000														36			6		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19428801	19428801	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19428801G>A	uc010tcj.1	-	0		c.17309C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ggattatcccgatctcctgac	0.507000														16			6		0	0	1	0	0
LOC400794	400794	broad.mit.edu	37	1	165551093	165551093	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:165551093C>T	uc001gdc.2	-	0		c.249G>A			LOC400794_uc001gdd.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC400794 (LOC400794), non-coding RNA.																		TCTCCCTGCCCATCACGGAAT	0.557000														5			3		0	0	1	0	0
SPATA9	83890	broad.mit.edu	37	5	94994441	94994441	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:94994441C>T	uc003klj.1	-	4	807	c.651G>A	c.(649-651)ccG>ccA	p.P217P	SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Non-coding_Transcript|SPATA9_uc003kli.1_Non-coding_Transcript	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	Homo sapiens spermatogenesis associated 9 (SPATA9), mRNA.	217					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CTGGCTTCTCCGGCAATGACC	0.403000														51			29		0	0	1	0	0
SDHAF2	54949	broad.mit.edu	37	11	61213508	61213508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:61213508C>T	uc001nrt.3	+	3	488	c.466C>T	c.(466-468)Cca>Tca	p.P156S		NM_017841	NP_060311	Q9NX18	SDHF2_HUMAN	Homo sapiens succinate dehydrogenase complex assembly factor 2 (SDHAF2), nuclear gene encoding mitochondrial protein, mRNA.	156					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						ACTGCGTGCCCCAGATCTTGA	0.473000											OREG0021000	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		91			44		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945144	144945144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144945144G>A	uc003zaa.1	-	0	2291	c.2278C>T	c.(2278-2280)Cct>Tct	p.P760S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	760						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGTCAGAAGGGTCCAACAGG	0.642000														125			40		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168845770	168845770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:168845770G>A	uc011bpj.1	-	4	1095	c.692C>T	c.(691-693)cCa>cTa	p.P231L	MECOM_uc010hwk.1_Missense_Mutation_p.P66L|MECOM_uc003ffj.3_Missense_Mutation_p.P107L|MECOM_uc003ffi.3_Missense_Mutation_p.P43L|MECOM_uc011bpi.1_Missense_Mutation_p.P43L|MECOM_uc003ffn.3_Missense_Mutation_p.P43L|MECOM_uc003ffk.2_Missense_Mutation_p.P43L|MECOM_uc003ffl.2_Missense_Mutation_p.P203L|MECOM_uc011bpk.1_Missense_Mutation_p.P43L|MECOM_uc010hwn.2_Missense_Mutation_p.P231L|MECOM_uc003ffm.1_Missense_Mutation_p.P107L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGTACTGCATGGAAACTTTTG	0.438000														147			59		0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15166852	15166852	+	Silent	SNP	G	A	A	rs61750056	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15166852G>A	uc010dzv.2	+	6	893	c.681G>A	c.(679-681)acG>acA	p.T227T		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	227					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CAAGGAAAACGAACCCTGAAA	0.522000														14			4		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90281262	90281262	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:90281262G>A	uc003kju.3	+	84	18171	c.18075G>A	c.(18073-18075)gtG>gtA	p.V6025V	GPR98_uc003kjt.3_Silent_p.V3731V|GPR98_uc003kjw.3_Silent_p.V1686V|GPR98_uc003kjx.3_Silent_p.V53V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	6025					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTTTGTGGTGATTCTCCTCA	0.438000														51			8		0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47225277	47225277	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47225277G>A	uc002pfm.3	-	15	2112	c.2079C>T	c.(2077-2079)gcC>gcT	p.A693A	STRN4_uc002pfl.3_Silent_p.A686A|STRN4_uc010xyf.2_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	686						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGGGGTCCACGGCTAGGCAGG	0.632000														70			34		0	0	1	0	0
GCG	2641	broad.mit.edu	37	2	163003880	163003880	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:163003880C>T	uc002ucc.3	-	2	493	c.237G>A	c.(235-237)atG>atA	p.M79I		NM_002054	NP_002045	P01275	GLUC_HUMAN	Homo sapiens glucagon (GCG), mRNA.	79					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	TCTTGGTATTCATCAACCACT	0.413000														181			68		0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52979922	52979922	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52979922C>T	uc001sar.2	-	8	1466	c.1380G>A	c.(1378-1380)ggG>ggA	p.G460G	KRT72_uc001saq.2_Silent_p.G460G|KRT72_uc010sns.1_Silent_p.G418G|KRT72_uc010snt.1_Silent_p.G272G	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	460	Tail.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGAAGCCAGCCCCTCCTGCCC	0.587000														46			9		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145109543	145109544	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:145109543_145109544GG>AA	uc003zar.3	-	18	2688_2689	c.2606_2607CC>TT	c.(2605-2607)ccc>cTT	p.P869L	OPLAH_uc003zas.1_Missense_Mutation_p.P144S	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	869							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TGGTGGAGTGGGGGGGCATGGA	0.644000														39			6		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50605650	50605650	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:50605650C>T	uc003tpg.4	-	3	544	c.343G>A	c.(343-345)Gag>Aag	p.E115K	DDC_uc022ade.1_Intron|DDC_uc003tpf.4_Missense_Mutation_p.E115K|DDC_uc022adb.1_Missense_Mutation_p.E77K|DDC_uc022adc.1_Missense_Mutation_p.E115K|DDC_uc022add.1_Missense_Mutation_p.E115K|DDC_uc022adf.1_Missense_Mutation_p.E115K|LOC100129427_uc022adg.1_Intron	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	115	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ATCACAGTCTCCAGCTCTGTG	0.552000														47			21		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642007	57642007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57642007G>A	uc002qny.3	+	3	2320	c.1964G>A	c.(1963-1965)gGa>gAa	p.G655E	USP29_uc021vci.1_Missense_Mutation_p.G655E	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	655					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			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)		ATGGACCAGGGAGACATTTCT	0.493000														39			14		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207751211	207751211	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:207751211G>A	uc001hfy.3	+	20	3389	c.3249G>A	c.(3247-3249)gaG>gaA	p.E1083E	CR1_uc009xcl.1_Silent_p.E633E|CR1_uc001hfx.3_Silent_p.E1533E|CR1_uc021pij.1_Silent_p.E1083E	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1083	Sushi 17.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCAACAGAGAGAATTTTCACT	0.473000														102			21		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404029	20404029	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:20404029C>T	uc001vwj.2	+	0	263	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S67Y(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)		ATCTTTCTTTCATTGATATCT	0.388000														131			55		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113102448	113102449	+	Missense_Mutation	DNP	GG	AA	AA	rs55757519		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113102448_113102449GG>AA	uc021qqp.1	+	10	1615_1616	c.1243_1244GG>AA	c.(1243-1245)gga>AAa	p.G415K	NCAM1_uc001pnp.3_Missense_Mutation_p.G379K|NCAM1_uc021qqo.1_Missense_Mutation_p.G379K|NCAM1_uc001pnq.3_Missense_Mutation_p.G389K|NCAM1_uc001pnr.3_Missense_Mutation_p.G379K	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	391					axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane		p.G390*(2)|p.P415Q(2)|p.G381*(1)|p.A414G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CACTGATGCCGGAGAGTACATC	0.594000														76			30		0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78922032	78922032	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:78922032G>A	uc002bed.1	-	4	727	c.615C>T	c.(613-615)gcC>gcT	p.A205A	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.A23A	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	205					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TCCCTGGGAGGGCCACTATGT	0.552000														97			80		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22893441	22893441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:22893441C>T	uc002zwf.3	-	2	248	c.92G>A	c.(91-93)gGg>gAg	p.G31E	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.G15E|PRAME_uc010gtr.3_Missense_Mutation_p.G31E|PRAME_uc002zwg.3_Missense_Mutation_p.G31E|PRAME_uc002zwh.3_Missense_Mutation_p.G31E|PRAME_uc002zwi.3_Missense_Mutation_p.G31E|PRAME_uc002zwj.3_Missense_Mutation_p.G31E|PRAME_uc002zwk.3_Missense_Mutation_p.G31E	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	31					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CAGGCTCTGCCCTGCCAGCTC	0.592000														198			33		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120969584	120969584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:120969584C>T	uc003eec.4	+	14	1555	c.1415C>T	c.(1414-1416)tCa>tTa	p.S472L	STXBP5L_uc011bji.2_Missense_Mutation_p.S472L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	472					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCAGATGGATCAATAAAATTT	0.294000														33			12		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584496	7584496	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7584496G>A	uc003mxp.1	+	23	7280	c.7001G>A	c.(7000-7002)cGa>cAa	p.R2334Q	DSP_uc003mxq.1_Missense_Mutation_p.R1735Q|DSP_uc021yle.1_Missense_Mutation_p.R1891Q	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2334	Globular 2.				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)		TCTGCAGAACGAGCTGTCACT	0.463000														56			21		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959834	157959834	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:157959834C>T	uc003wno.3	-	5	820	c.699G>A	c.(697-699)gtG>gtA	p.V233V	PTPRN2_uc003wnp.3_Silent_p.V216V|PTPRN2_uc003wnq.3_Silent_p.V233V|PTPRN2_uc003wnr.3_Silent_p.V195V|PTPRN2_uc011kwa.2_Silent_p.V256V	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	233						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CACCACTGTCCACCTTAGGGC	0.697000														36			18		0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129042	248129042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248129042C>T	uc010pzd.2	+	0	409	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTCTTATGATCGCTATGTAGC	0.438000														318			111		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9038103	9038103	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9038103G>A	uc002mkp.3	-	7	36377	c.36173C>T	c.(36172-36174)tCc>tTc	p.S12058F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12060	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						GGAGGATGTGGAAATCCCTGG	0.483000														3			4		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87487623	87487623	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:87487623G>A	uc001kdl.1	-	9	1623	c.1522C>T	c.(1522-1524)Ctc>Ttc	p.L508F	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.L79F	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	508						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TTGCTGATGAGCTCCCCGATC	0.537000										Multiple Myeloma(13;0.14)				70			17		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343311	248343311	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248343311C>T	uc010pzf.2	+	0	24	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T7T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATCAGACCTTCAACTCCGACT	0.423000														254			51		0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153749612	153749612	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153749612C>T	uc001fcz.3	+	2	1158	c.1093C>T	c.(1093-1095)Cac>Tac	p.H365Y	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	365					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTGTGGTGTCCACCAGGAAGA	0.587000														105			36		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240849	126240849	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126240849G>A	uc003ifj.4	+	0	3283	c.3283G>A	c.(3283-3285)Gat>Aat	p.D1095N		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1095	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGATGTAAATGATAACAGACC	0.383000														177			72		0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34487474	34487474	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:34487474C>T	uc002xek.1	+	9	1576	c.1465C>T	c.(1465-1467)Ccg>Tcg	p.P489S	PHF20_uc002xei.1_Missense_Mutation_p.P489S|PHF20_uc010gfo.1_Missense_Mutation_p.P489S|PHF20_uc002xej.1_Missense_Mutation_p.P373S	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AGAAGAGAGCCCGGGAAAGAG	0.512000														56			19		0	0	1	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6954416	6954416	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrY:6954416G>A	uc004frb.3	+	15	1885	c.1238G>A	c.(1237-1239)gGg>gAg	p.G413E	TBL1Y_uc004frc.3_Missense_Mutation_p.G413E|TBL1Y_uc004frd.3_Missense_Mutation_p.G413E|TBL1Y_uc011nap.2_Missense_Mutation_p.G255E	NM_033284	NP_599021	Q9BQ87	TBL1Y_HUMAN	Homo sapiens transducin (beta)-like 1, Y-linked (TBL1Y), transcript variant 1, mRNA.	413					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						AGCCCCACCGGGCCTGCCACC	0.537000														13			13		0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49700992	49700992	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:49700992G>A	uc021zai.1	-	5	594	c.506C>T	c.(505-507)tCt>tTt	p.S169F	CRISP3_uc003ozs.3_Missense_Mutation_p.S159F	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	146					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GAGGTATGAAGAGTACCAAAC	0.328000														129			61		0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198561	15198561	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15198561C>T	uc010xoe.2	+	0	685	c.685C>T	c.(685-687)Cct>Tct	p.P229S		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CTTTAAGATCCCTTCTACTCG	0.517000														61			22		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541680	133541680	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:133541680C>T	uc002ttp.3	-	13	3078	c.2704G>A	c.(2704-2706)Gag>Aag	p.E902K	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	902							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCACTAGACTCAATGGCAGGC	0.647000														55			18		0	0	1	0	0
EFNA3	1944	broad.mit.edu	37	1	155039326	155039326	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:155039326G>A	uc001fhc.3	+	1	321	c.234G>A	c.(232-234)gtG>gtA	p.V78V	EFNA3_uc010pew.2_Intron|LOC100505666_uc021pan.1_5'Flank|EFNA3_uc001fhd.3_Silent_p.V78V|EFNA3_uc001fhe.3_Silent_p.V78V	NM_182689	NP_872631	P52797	EFNA3_HUMAN	Homo sapiens ephrin-A4 (EFNA4), transcript variant 2, mRNA.	91					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGTACATGGTGGACTGGCCAG	0.612000														43			20		0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723446	48723446	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48723446G>A	uc001rrm.3	+	0	684	c.372G>A	c.(370-372)aaG>aaA	p.K124K		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	124					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GGGTCTGGAAGGTTCCCAAGC	0.746000														20			11		0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6290997	6290997	+	Missense_Mutation	SNP	C	T	T	rs148924129		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6290997C>T	uc001mcp.3	+	1	505	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	CCKBR_uc001mcq.3_Missense_Mutation_p.R12C|CCKBR_uc001mcr.3_Missense_Mutation_p.R84C|CCKBR_uc001mcs.3_Missense_Mutation_p.R84C	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	84					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ACTGAGCCGCCGCCTGAGGAC	0.552000														84			30		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55512153	55512153	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55512153G>A	uc021vbq.1	+	12	3187	c.3076G>A	c.(3076-3078)Gaa>Aaa	p.E1026K	NLRP2_uc010yfp.2_Missense_Mutation_p.E1003K|NLRP2_uc002qij.3_Missense_Mutation_p.E1026K|NLRP2_uc010esp.3_Missense_Mutation_p.E1004K|NLRP2_uc010esn.3_Missense_Mutation_p.E1002K|NLRP2_uc010eso.3_Missense_Mutation_p.E1023K	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	1026					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTTTAATGATGAACTCAATAA	0.388000														93			42		0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890533	23890533	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:23890533G>C	uc001ywj.4	-	0	2461	c.2357C>G	c.(2356-2358)tCc>tGc	p.S786C		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GACACTTGAGGAGGGAGCAAA	0.587000														56			5		0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624451	123624451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123624451C>T	uc010rzy.2	-	0	776	c.776G>A	c.(775-777)aGa>aAa	p.R259K		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGCTGTGGGTCTTAGGTACAT	0.463000														68			20		0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248845324	248845324	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248845324G>A	uc001ieu.1	-	0	282	c.282C>T	c.(280-282)ggC>ggT	p.G94G		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G94G(2)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GAGCCACACAGCCAAGATAAG	0.488000														40			8		0	0	1	0	0
C14orf102	55051	broad.mit.edu	37	14	90770548	90770548	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:90770548G>A	uc001xyi.2	-	4	969	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.2_Missense_Mutation_p.P15S	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	246							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TCAGATGAGGGAGGTTCAGTT	0.448000														120			43		0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	64981640	64981640	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:64981640C>T	uc021qlg.1	+	0	330	c.297C>T	c.(295-297)tcC>tcT	p.S99S	SLC22A20_uc021qlh.1_5'UTR	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 1, mRNA.	97					ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GCCCCAACTCCTCCATCCCGG	0.682000														2			3		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51382209	51382209	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:51382209C>T	uc001wyu.3	-	10	1375	c.1248G>A	c.(1246-1248)gtG>gtA	p.V416V	PYGL_uc010tqq.2_Silent_p.V382V	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	416					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GAAACAAGGCCACAATTCTCT	0.448000														68			25		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74276746	74276746	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74276746C>T	uc002jrd.1	-	9	4132	c.3952G>A	c.(3952-3954)Gag>Aag	p.E1318K	QRICH2_uc010dgw.1_Missense_Mutation_p.E162K	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1318							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACATCGATCTCCATCTCCAGG	0.587000														78			18		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143080913	143080913	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:143080913G>A	uc003qjd.3	-	8	7255	c.6512C>T	c.(6511-6513)cCt>cTt	p.P2171L		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ACTTACAGGAGGCCCCAATAC	0.433000														65			20		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113519003	113519003	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:113519003G>A	uc003ynu.3	-	28	4971	c.4812C>T	c.(4810-4812)ttC>ttT	p.F1604F	CSMD3_uc003yns.3_Silent_p.F876F|CSMD3_uc003ynt.3_Silent_p.F1564F|CSMD3_uc011lhx.2_Silent_p.F1500F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1604	CUB 9.					integral to membrane|plasma membrane		p.F1604L(2)|p.F1604_P1605>LA(2)|p.F1564L(1)|p.F1564_P1565>LA(1)		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						ATGGATGAGGGAAGTTTGGTG	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				70			15		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145427402	145427402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:145427402C>T	uc003lnt.3	+	5	1365	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F	SH3RF2_uc011dbl.1_Missense_Mutation_p.S376F|SH3RF2_uc011dbm.1_5'Flank|SH3RF2_uc003lnu.3_5'Flank	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	376							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)			CTGCCTGGCTCCCAGCAACAC	0.537000														54			20		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921186	247921186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247921186G>A	uc010pza.2	-	0	523	c.523C>T	c.(523-525)Cat>Tat	p.H175Y		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGAAATGATGGATGATATTG	0.478000														17			6		0	0	1	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142499852	142499852	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142499852C>T	uc003wbe.4	+	3		c.522C>T			TCRBV3S1_uc022anx.1_Non-coding_Transcript|TCRBV3S1_uc003wbi.4_Non-coding_Transcript|TCRBV3S1_uc022any.1_Non-coding_Transcript|TCRBV3S1_uc003wbm.4_Non-coding_Transcript|TCRBV3S1_uc003wbn.4_Non-coding_Transcript|TCRBV3S1_uc010los.3_Non-coding_Transcript					Human TCR Cbeta1 chain cDNA.																		GGGAAGGCCACCTTGTATGCC	0.557000														42			13		0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139089576	139089576	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139089576C>T	uc004cgz.3	-	5	923	c.804G>A	c.(802-804)ttG>ttA	p.L268L	LHX3_uc022bpm.1_3'UTR|LHX3_uc004cha.3_Silent_p.L263L	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	263					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CCATTTCCGCCAAGGAAGGCT	0.687000														23			8		0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38818217	38818217	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:38818217C>T	uc002hvc.2	-	1	241	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	KRT222_uc002hvb.2_Missense_Mutation_p.R19Q|KRT222_uc010cxc.3_Missense_Mutation_p.R19Q	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	59						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						CCACTGGCGTCGGGCCTCCTT	0.468000														116			92		0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458484	248458484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248458484G>A	uc010pzj.2	-	0	397	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	133					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)			CAGCTCATGAGAGTGGGATAT	0.602000														49			15		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52575039	52575039	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:52575039C>T	uc002lfs.3	-	10	1100	c.928G>A	c.(928-930)Gta>Ata	p.V310I	CCDC68_uc002lft.3_Missense_Mutation_p.V310I	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	310										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GCCTTAGATACCTTTGTCCTA	0.378000														107			10		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093026	143093026	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:143093026G>A	uc003qjd.3	-	4	3593	c.2850C>T	c.(2848-2850)tcC>tcT	p.S950S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	950	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ACTCCCCTGAGGAGTGCTCCA	0.557000														52			34		0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57796460	57796460	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:57796460C>T	uc003hch.3	+	3	1783	c.1436C>T	c.(1435-1437)cCt>cTt	p.P479L	REST_uc003hci.3_Missense_Mutation_p.P479L|REST_uc010ihf.3_Missense_Mutation_p.P153L	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	479	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GAGAAAAAGCCTTCTAATAAT	0.373000														52			4		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747663	143747663	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143747663C>T	uc011ktw.2	+	0	169	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ACTGCACACCCCCATGTACTT	0.507000														94			42		0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29628666	29628666	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:29628666G>A	uc003cel.3	+	3	739	c.369G>A	c.(367-369)aaG>aaA	p.K123K	RBMS3_uc010hfq.3_Silent_p.K123K|RBMS3_uc003cek.3_Silent_p.K123K|RBMS3_uc010hfr.3_Silent_p.K123K|RBMS3_uc003cem.3_Silent_p.K122K	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	123	RRM 1.					cytoplasm	RNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CATCTCTCAAGGCAAATGGCG	0.398000														81			5		0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68929890	68929890	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:68929890C>T	uc021xag.1	-	2	614	c.121G>A	c.(121-123)Gga>Aga	p.G41R	FAM19A4_uc021xah.1_Missense_Mutation_p.G41R|5S_rRNA_uc021xai.1_5'Flank	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 (FAM19A4), transcript variant 1, mRNA.	41						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		CCTGCATGTCCCCGGAGGTGC	0.478000														55			18		0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69265641	69265641	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:69265641C>T	uc001sup.3	-	3	415	c.354G>A	c.(352-354)cgG>cgA	p.R118R	CPM_uc001sur.3_Silent_p.R118R|CPM_uc001suq.3_Silent_p.R118R	NM_198320	NP_938079	P14384	CBPM_HUMAN	Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA.	118					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	p.R118R(1)		large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGATGTGTATCCGGGTACTAT	0.463000														109			33		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124201687	124201687	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:124201687C>T	uc003ehg.3	+	27	4345	c.4218C>T	c.(4216-4218)tcC>tcT	p.S1406S	KALRN_uc010hrv.1_Silent_p.S1397S|KALRN_uc003ehf.1_Silent_p.S1406S|KALRN_uc011bjy.1_Silent_p.S1397S|KALRN_uc003ehh.1_Silent_p.S752S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1406	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGGCCAACTCCATCTCTTCCT	0.512000														129			16		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56392911	56392911	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56392911C>T	uc002qmd.4	+	9	3365	c.2943C>T	c.(2941-2943)acC>acT	p.T981T	NLRP4_uc002qmf.3_Silent_p.T906T|NLRP4_uc010etf.3_Silent_p.T756T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	981							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTAACCTGACCATCACAGACG	0.478000														40			18		0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73346025	73346025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:73346025G>A	uc001vix.4	-	10	1887	c.1513C>T	c.(1513-1515)Cat>Tat	p.H505Y	DIS3_uc001viy.4_Missense_Mutation_p.H475Y|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	505					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TCAGCAATATGAACACCAACC	0.333000										Multiple Myeloma(4;0.011)				104			22		0	0	1	0	0
EED	8726	broad.mit.edu	37	11	85989562	85989562	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:85989562C>T	uc001pbp.3	+	11	1787	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*	EED_uc001pbq.3_3'UTR|EED_uc001pbr.3_Nonsense_Mutation_p.R466*	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	441	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GGATCGACTTCGATAAAATAC	0.383000														55			20		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140779344	140779344	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140779344C>T	uc003lkf.2	+	0	1650	c.1650C>T	c.(1648-1650)gaC>gaT	p.D550D	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.D550D	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	556	Cadherin 5.				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)			TGGTGGGCGACCGAAACGACA	0.682000														35			10		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27228254	27228254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:27228254C>T	uc011lno.2	+	20	3564	c.3122C>T	c.(3121-3123)tCa>tTa	p.S1041L	TEK_uc003zqi.4_Missense_Mutation_p.S1084L|TEK_uc011lnp.2_Missense_Mutation_p.S936L	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	1084	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GAGAGGCCATCATTTGCCCAG	0.413000														109			16		0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46608058	46608058	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:46608058G>A	uc002ink.1	-	0	215	c.209C>T	c.(208-210)tCg>tTg	p.S70L	HOXB1_uc021tzf.1_Missense_Mutation_p.S70L	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	70						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCCCAGGGTCGAAGGCGGCTG	0.682000														47			16		0	0	1	0	0
ABHD6	57406	broad.mit.edu	37	3	58271159	58271159	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58271159C>T	uc003djs.4	+	7	1226	c.816C>T	c.(814-816)atC>atT	p.I272I	ABHD6_uc003djt.4_Silent_p.I272I	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN	Homo sapiens abhydrolase domain containing 6 (ABHD6), mRNA.	272						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CGACGCAGATCATCTGGGGGA	0.483000														64			21		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75902057	75902057	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:75902057C>T	uc021zbv.1	-	2	240	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.E69K|COL12A1_uc003pht.3_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	69	Fibronectin type-III 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.E69E(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGGGTAAATTCTTTAGTAGGC	0.328000														56			8		0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42866339	42866339	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:42866339G>A	uc010gor.3	-	2	354	c.293C>T	c.(292-294)tCc>tTc	p.S98F	TMPRSS2_uc002yzj.3_Missense_Mutation_p.S61F|TMPRSS2_uc010gos.1_Missense_Mutation_p.S61F	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	61					proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GACGGGGTTGGAAGCCTGCGT	0.602000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate									40			12		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124403488	124403488	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:124403488G>A	uc001uft.4	+	63	11169	c.11144G>A	c.(11143-11145)gGc>gAc	p.G3715D		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3715					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TATAACCACGGCTGCACAGGT	0.498000														72			6		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18753478	18753478	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:18753478C>T	uc003zne.4	+	15	2341	c.2189C>T	c.(2188-2190)cCa>cTa	p.P730L		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	730						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AATTGCCCCCCAGCCTGGTAC	0.512000														15			6		0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509965	105509965	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:105509965G>A	uc003yma.3	-	4	942	c.815C>T	c.(814-816)tCt>tTt	p.S272F	LRP12_uc003ymb.3_Missense_Mutation_p.S253F|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	272	CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.S272F(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATAATTGGGAGAATTAAAAGT	0.398000														53			26		0	0	1	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51237684	51237684	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:51237684G>A	uc001rwx.4	+	1	294	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	TMPRSS12_uc001rwy.3_Missense_Mutation_p.E83K	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN	Homo sapiens transmembrane (C-terminal) protease, serine 12 (TMPRSS12), mRNA.	83	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.T82T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						AGGGGGCACCGAAGCACAAGC	0.473000														6			6		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110493734	110493734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:110493734C>T	uc003yne.3	+	55	9504	c.9400C>T	c.(9400-9402)Cat>Tat	p.H3134Y		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3134	G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TAGAGGAAATCATACTACACA	0.398000										HNSCC(38;0.096)				15			5		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85518140	85518140	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:85518140G>A	uc001tac.3	+	16	3961	c.3850G>A	c.(3850-3852)Gaa>Aaa	p.E1284K	LRRIQ1_uc021rbo.1_Missense_Mutation_p.E1162K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1284										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CGCCACATGTGAAAATATGGA	0.448000														121			66		0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987313	154987313	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:154987313C>T	uc001fgj.4	+	4	564	c.279C>T	c.(277-279)ttC>ttT	p.F93F	ZBTB7B_uc009wpa.3_Silent_p.F59F|ZBTB7B_uc001fgk.4_Silent_p.F59F|ZBTB7B_uc010peq.2_Silent_p.F93F|ZBTB7B_uc001fgl.4_Silent_p.F59F	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	59	BTB.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCACTACTTCAAGAAGCTTT	0.652000														122			10		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106970943	106970943	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106970943C>T	uc001kyi.1	+	16	2537	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	770						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCCCAGCTTTCTGGTACAATC	0.448000														47			23		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38481797	38481797	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:38481797G>A	uc010ive.1	-	19	3526	c.3194C>T	c.(3193-3195)tCc>tTc	p.S1065F	LIFR_uc003jli.2_Missense_Mutation_p.S1065F	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	1065					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAATTGTCGGGAATTAATGGA	0.388000			T	PLAG1	salivary adenoma									156			58		0	0	1	0	0
SLC35C1	55343	broad.mit.edu	37	11	45832766	45832766	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:45832766G>A	uc001nbp.3	+	1	1687	c.975G>A	c.(973-975)acG>acA	p.T325T	SLC35C1_uc001nbo.3_Silent_p.T312T|SLC35C1_uc010rgm.2_Silent_p.T312T	NM_018389	NP_001138738	Q96A29	FUCT1_HUMAN	Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 1, mRNA.	325						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		TCTGGTGGACGAGCAACATGA	0.632000														16			22		0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88814571	88814571	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:88814571G>A	uc010iko.1	+	3	1198	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		GCAGCTCAAGGAGTTTGATGG	0.507000														31			4		0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156476087	156476087	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156476087C>T	uc010jij.1	-	4	928	c.743G>A	c.(742-744)aGa>aAa	p.R248K	HAVCR1_uc011ddl.1_Missense_Mutation_p.R79K|HAVCR1_uc003lwi.2_Missense_Mutation_p.R248K|HAVCR1_uc021ygj.1_Missense_Mutation_p.R248K|HAVCR1_uc021ygk.1_Missense_Mutation_p.R79K	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	243					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTGGGTTCTCTCCTTATTGC	0.463000														86			39		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23915544	23915544	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:23915544G>A	uc001uon.2	-	9	3060	c.2471C>T	c.(2470-2472)tCg>tTg	p.S824L	SACS_uc001uoo.2_Missense_Mutation_p.S677L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	824				QTCVELIRLRIPSLVILDDES -> FLFDEDSNGKLKMVAV LITSC (in Ref. 3; CAE45964).	cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATGACTAACGATGGAATCCT	0.383000														82			36		0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1879722	1879722	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1879722C>T	uc003jcz.2	-	3	751	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	IRX4_uc011cmf.1_Missense_Mutation_p.R72Q	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	211					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R211W(1)		endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCACTTGTTCCGCGGCGGCCA	0.662000														79			9		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219884425	219884425	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:219884425C>T	uc002vjl.1	-	19	3360	c.3276G>A	c.(3274-3276)gaG>gaA	p.E1092E	CCDC108_uc002vjm.3_5'UTR	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1092						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCCTGCTTCTCCCCAGCCT	0.622000														27			6		0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31712394	31712394	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:31712394G>A	uc021wuu.1	-	8	2479	c.1808C>T	c.(1807-1809)cCg>cTg	p.P603L	OSBPL10_uc003ceu.1_Missense_Mutation_p.P360L|OSBPL10_uc011axf.2_Missense_Mutation_p.P539L	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	603					lipid transport		lipid binding	p.P603L(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CTCCACCCACGGGATGGTGAG	0.567000														86			7		0	0	1	0	0
TRAF1	7185	broad.mit.edu	37	9	123671621	123671621	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:123671621G>A	uc004bku.2	-	6	1491	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	TRAF1_uc011lyg.2_Silent_p.L185L|TRAF1_uc010mvl.2_Silent_p.L307L	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	307	MATH.				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						TACAGCCGCAGGCACAACTTG	0.547000														198			26		0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112958820	112958820	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:112958820C>T	uc001ebx.3	+	2	261	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	11						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCCTGAACTCCTGACACTAT	0.343000														103			33		0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100177947	100177947	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:100177947C>T	uc004egn.2	-	1	1044	c.439G>A	c.(439-441)Gag>Aag	p.E147K	XKRX_uc011mre.1_Intron	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA.	147						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						ATCAGCACCTCCTCGCCATCT	0.537000														60			71		0	0	1	0	0
TINAGL1	64129	broad.mit.edu	37	1	32042974	32042974	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32042974C>T	uc001bta.3	+	1	351	c.225C>T	c.(223-225)ctC>ctT	p.L75L	TINAGL1_uc010ogi.1_Silent_p.L75L|TINAGL1_uc010ogj.2_Silent_p.L75L|TINAGL1_uc010ogk.1_Silent_p.L75L|TINAGL1_uc021oko.1_5'Flank	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	75	SMB.				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		ACTGTGACCTCTTCTGCAACC	0.657000														148			33		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81167172	81167172	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:81167172G>A	uc002fgh.1	-	34	5850	c.5850C>T	c.(5848-5850)atC>atT	p.I1950I	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1951					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCCTACCCAGGATTTCTCTGA	0.527000														37			7		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43771946	43771946	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43771946G>A	uc002owd.4	-	1	519	c.420C>T	c.(418-420)ttC>ttT	p.F140F	PSG9_uc002owe.4_Silent_p.F140F|PSG9_uc010xwm.2_Silent_p.F140F|PSG9_uc002owf.4_Silent_p.F140F|PSG9_uc002owg.2_Silent_p.F140F	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	140	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGTATAAGGTGAAGGTGAAAT	0.488000														209			77		0	0	1	0	0
MIPEP	4285	broad.mit.edu	37	13	24455909	24455909	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:24455909G>A	uc001uox.4	-	2	509	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.	127					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CAGGGTGAGCGATTTTCACAA	0.458000														34			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599149	179599149	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179599149G>A	uc021vsy.1	-	48	11895	c.11670C>T	c.(11668-11670)atC>atT	p.I3890I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I551I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4817							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)			TAAACGAAAAGATCTCCAGAC	0.383000														162			52		0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82321756	82321756	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:82321756C>T	uc004ald.3	+	10	1706	c.857C>T	c.(856-858)cCa>cTa	p.P286L	TLE4_uc004alc.3_Missense_Mutation_p.P293L|TLE4_uc010mpr.3_Missense_Mutation_p.P172L|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Missense_Mutation_p.P261L|TLE4_uc010mps.3_Intron|TLE4_uc004alf.3_Missense_Mutation_p.P232L	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						CCGATTAGTCCAGCCTCTATT	0.527000														158			65		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45795022	45795022	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:45795022C>T	uc003bgc.3	-	5	1118	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	SMC1B_uc003bgd.3_Missense_Mutation_p.E356K|SMC1B_uc003bge.1_Missense_Mutation_p.E139K	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	356					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AAAATTTCTTCCTCAATCTGC	0.378000														192			23		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561402	44561402	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:44561402G>A	uc002lcr.1	-	0	587	c.234C>T	c.(232-234)ctC>ctT	p.L78L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	78	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTCGGTCCACGAGCACCAGCT	0.642000														45			18		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47944643	47944643	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:47944643A>T	uc010ele.3	-	3	1834	c.1818T>A	c.(1816-1818)aaT>aaA	p.N606K	SLC8A2_uc002pgx.3_Missense_Mutation_p.N606K|SLC8A2_uc010xyq.2_Missense_Mutation_p.N362K|SLC8A2_uc010xyr.2_Missense_Mutation_p.N69K			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	606	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAATGAAGAAATTATCCTTTT	0.542000														44			23		0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186362702	186362702	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:186362702C>T	uc010hyq.3	+	4	848	c.587C>T	c.(586-588)tCt>tTt	p.S196F	FETUB_uc011brz.2_Missense_Mutation_p.S48F|FETUB_uc003fqn.3_Missense_Mutation_p.S196F|FETUB_uc010hyr.3_Missense_Mutation_p.S159F|FETUB_uc010hys.3_Missense_Mutation_p.S48F|FETUB_uc003fqp.4_Missense_Mutation_p.S131F	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	196	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		ACCAGGGCTTCTAGCCAGGTA	0.478000														74			17		0	0	1	0	0
ARRDC2	27106	broad.mit.edu	37	19	18121442	18121442	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:18121442C>T	uc002nhv.3	+	6	1217	c.1074C>T	c.(1072-1074)ccC>ccT	p.P358P	ARRDC2_uc002nhu.3_Silent_p.P353P	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	Homo sapiens arrestin domain containing 2 (ARRDC2), transcript variant 1, mRNA.	358										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GGCAGAGCCCCTTCCCGCTTC	0.632000														78			37		0	0	1	0	0
C1orf115	79762	broad.mit.edu	37	1	220870013	220870013	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:220870013C>T	uc001hmp.1	+	1	486	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_024709	NP_078985	Q9H7X2	CA115_HUMAN	Homo sapiens chromosome 1 open reading frame 115 (C1orf115), mRNA.	123						integral to membrane		p.F123F(2)		large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0273)		TGCAAGGCTTCGCTGCAGCCT	0.557000														116			46		0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44791515	44791515	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44791515G>A	uc002oza.4	-	4	2176	c.2073C>T	c.(2071-2073)ggC>ggT	p.G691G	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Silent_p.G687G	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	691					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CCTGACTGAAGCCCTTCCCAC	0.512000														98			24		0	0	1	0	0
SERPINA13	388007	broad.mit.edu	37	14	95107644	95107644	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:95107644G>A	uc001ydt.3	+	1	249	c.161G>A	c.(160-162)gGa>gAa	p.G54E						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						TCAGACCAAGGACCCCAGAGG	0.542000														20			7		0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	168014196	168014196	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:168014196C>T	uc001gew.3	+	13	2111	c.1758C>T	c.(1756-1758)gaC>gaT	p.D586D	DCAF6_uc001gex.3_Silent_p.D663D|DCAF6_uc010plk.2_Silent_p.D632D|DCAF6_uc001gev.3_Silent_p.D606D|DCAF6_uc001gey.3_Silent_p.D459D|DCAF6_uc001gez.3_5'UTR	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	586					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AAAGAAATGACCTCAATCTTG	0.428000														172			53		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94109943	94109943	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94109943G>A	uc001ybv.1	+	32	5679	c.5596G>A	c.(5596-5598)Gag>Aag	p.E1866K	UNC79_uc001ybs.1_Missense_Mutation_p.E1844K	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2021						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						ATACGATGAAGAGACACTTGG	0.483000														71			36		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754281	49754281	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:49754281G>A	uc003ozu.3	-	0	773	c.620C>T	c.(619-621)cCc>cTc	p.P207L		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	207					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.P207P(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGCCAGAAAGGGTCTCACTGG	0.433000														132			46		0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151789722	151789722	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151789722C>T	uc001ezh.3	-	2	213	c.105G>A	c.(103-105)ggG>ggA	p.G35G	RORC_uc001ezg.3_Silent_p.G14G|RORC_uc010pdo.2_Silent_p.G89G|RORC_uc010pdp.2_Silent_p.G35G	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	35					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACGACTTGTCCCCACAGATTT	0.498000														65			20		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	271138	271138	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:271138C>T	uc001qhw.2	+	7	2490	c.2490C>T	c.(2488-2490)atC>atT	p.I830I	IQSEC3_uc001qhu.1_Silent_p.I527I	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	830	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGGTAGGCATCTATGAGAGGA	0.577000														18			5		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26681985	26681985	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:26681985G>A	uc001mqt.4	+	26	3085	c.2940G>A	c.(2938-2940)tgG>tgA	p.W980*	ANO3_uc010rdr.2_Nonsense_Mutation_p.W964*|ANO3_uc010rds.2_Nonsense_Mutation_p.W819*|ANO3_uc010rdt.2_Nonsense_Mutation_p.W834*	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	980						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ACCATGAATGGCCTTAGTTGA	0.418000														86			26		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29879498	29879498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:29879498G>A	uc003afo.3	+	1	1089	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N		NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	340	Coil 2B.|Rod.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAGCACCAAGGACTCACTGGA	0.612000														102			26		0	0	1	0	0
RBPJ	3516	broad.mit.edu	37	4	26387991	26387991	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:26387991C>T	uc003grx.2	+	2	312	c.76C>T	c.(76-78)Cct>Tct	p.P26S	RBPJ_uc003gry.2_Missense_Mutation_p.P11S|RBPJ_uc003grz.2_Missense_Mutation_p.P26S|RBPJ_uc011bxt.2_Missense_Mutation_p.P26S|RBPJ_uc003gsa.2_Missense_Mutation_p.P12S|RBPJ_uc003gsb.2_Missense_Mutation_p.P13S	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	26					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TGGTGAGCGGCCTCCACCTAA	0.279000														43			10		0	0	1	0	0
PAFAH1B2	5049	broad.mit.edu	37	11	117038270	117038270	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:117038270C>T	uc001pqe.2	+	5	687	c.545C>T	c.(544-546)tCg>tTg	p.S182L	PAFAH1B2_uc021qqv.1_Intron|PAFAH1B2_uc009yzn.3_Intron|PAFAH1B2_uc009yzm.3_Intron|PAFAH1B2_uc001pqf.3_Non-coding_Transcript|PAFAH1B2_uc009yzl.2_Intron|PAFAH1B2_uc009yzk.2_Intron	NM_002572	NP_002563	P68402	PA1B2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa) (PAFAH1B2), transcript variant 1, mRNA.	182					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		TTTGTGCACTCGGACGGTGCC	0.537000			T	IGH@	MLCLS									55			8		0	0	1	0	0
UPK1B	7348	broad.mit.edu	37	3	118909934	118909934	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:118909934G>A	uc003ecc.3	+	4	540	c.451G>A	c.(451-453)Gac>Aac	p.D151N	UPK1B_uc011bix.2_Missense_Mutation_p.D71N|UPK1B_uc003ecd.3_Missense_Mutation_p.D143N	NM_006952	NP_008883	O75841	UPK1B_HUMAN	Homo sapiens uroplakin 1B (UPK1B), mRNA.	151					epithelial cell differentiation	integral to membrane	structural molecule activity	p.W150L(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CAAAACCTGGGACAGGCTCAT	0.493000														177			79		0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73957010	73957010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:73957010G>A	uc003hgp.3	-	28	6452	c.6335C>T	c.(6334-6336)cCg>cTg	p.P2112L	ANKRD17_uc003hgo.3_Missense_Mutation_p.P1999L|ANKRD17_uc003hgq.3_Missense_Mutation_p.P1861L|ANKRD17_uc003hgr.3_Missense_Mutation_p.P2111L	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	2112					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACAGATCCCGGAGGTTGTTG	0.483000														112			60		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48620047	48620047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48620047G>A	uc003ctz.2	-	43	4559	c.4558C>T	c.(4558-4560)Cct>Tct	p.P1520S		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1520	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCACTTCAGGACCCTTGGCT	0.602000														54			15		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17415923	17415923	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17415923C>T	uc001mnc.3	-	36	4561	c.4435G>A	c.(4435-4437)Gag>Aag	p.E1479K		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1479	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTGAAATTCTCCCCGCCTTCT	0.562000														70			26		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39050237	39050237	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:39050237G>T	uc002rrf.3	-	16	3288	c.3189C>A	c.(3187-3189)ccC>ccA	p.P1063P	DHX57_uc002rrd.4_Silent_p.P447P|DHX57_uc002rre.3_Silent_p.P496P	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	1063							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TCACATCCACGGGCAGAGAGG	0.463000														76			24		1.10923e-09	1.11296e-09	1	1	0
PON1	5444	broad.mit.edu	37	7	94993239	94993239	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94993239C>T	uc003unt.3	-	5	656	c.631G>A	c.(631-633)Gag>Aag	p.E211K	PON1_uc011kih.2_Intron|PON1_uc011kii.2_Missense_Mutation_p.E259K	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	212					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	ACTTTAACCTCCCTTGGGCTG	0.438000														196			79		0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121107038	121107038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:121107038C>T	uc002tmn.2	+	1	858	c.812C>T	c.(811-813)tCg>tTg	p.S271L		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	271					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GGCGAAGAGTCGCACCGGCCC	0.662000														94			17		0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144802954	144802954	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144802954C>T	uc003yzj.3	+	8	902	c.861C>T	c.(859-861)ttC>ttT	p.F287F		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	287	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	p.F306F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCTGGTGTTCGCCCCGGACA	0.672000														31			5		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73905028	73905028	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:73905028C>T	uc011dyh.2	+	14	3094	c.2747C>T	c.(2746-2748)gCc>gTc	p.A916V	KCNQ5_uc011dyi.2_Missense_Mutation_p.A907V|KCNQ5_uc010kat.3_Missense_Mutation_p.A888V|KCNQ5_uc003pgk.3_Missense_Mutation_p.A897V|KCNQ5_uc011dyj.2_Missense_Mutation_p.A787V|KCNQ5_uc011dyk.2_Missense_Mutation_p.A647V	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	897					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AGGGAAGCTGCCTTTGCATCA	0.498000														144			11		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55955574	55955574	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:55955574C>T	uc003has.3	-	24	3673	c.3371G>A	c.(3370-3372)aGa>aAa	p.R1124K	KDR_uc003hat.1_Missense_Mutation_p.R1124K	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1124	Protein kinase.				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			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)	GGCCCTCATTCTAGTTCCTTC	0.398000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				44			21		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584837	7584837	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:7584837G>A	uc003mxp.1	+	23	7621	c.7342G>A	c.(7342-7344)Gaa>Aaa	p.E2448K	DSP_uc003mxq.1_Missense_Mutation_p.E1849K|DSP_uc021yle.1_Missense_Mutation_p.E2005K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2448	Globular 2.				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)		GCCTCTGAAAGAAAAGAAGAA	0.403000														87			38		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96025959	96025959	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:96025959C>T	uc004ati.1	+	13	3522	c.3522C>T	c.(3520-3522)tcC>tcT	p.S1174S	WNK2_uc011lud.1_Silent_p.S1174S|WNK2_uc004atj.3_Silent_p.S1174S|WNK2_uc004atk.3_Silent_p.S811S	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1174					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ACCGCAGGTCCACGCGTGCGC	0.687000														9			3		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156727806	156727807	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156727806_156727807CC>TT	uc021ygm.1	+	5	606_607	c.468_469CC>TT	c.(466-471)tacctc>taTTtc	p.L157F	CYFIP2_uc011ddn.2_Missense_Mutation_p.L132F|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Missense_Mutation_p.L157F|CYFIP2_uc021ygo.1_Missense_Mutation_p.L157F|CYFIP2_uc003lwt.3_Missense_Mutation_p.L36F|CYFIP2_uc011ddp.2_Intron	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	158					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGAGGCCTACCTCCTGACCCT	0.569000														25			13		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52495482	52495482	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:52495482G>A	uc001wzo.3	-	10	2722	c.2488C>T	c.(2488-2490)Cgg>Tgg	p.R830W	NID2_uc010tqs.2_Missense_Mutation_p.R830W|NID2_uc010tqt.1_Missense_Mutation_p.R830W|NID2_uc001wzp.3_Missense_Mutation_p.R830W	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	830	EGF-like 3; calcium-binding (Potential).		R -> Q (in dbSNP:rs7144523).			basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TAACCACTCCGGCACTCACAC	0.443000														38			23		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878979	24878979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:24878979C>T	uc001wpf.4	+	3	2297	c.1979C>T	c.(1978-1980)tCc>tTc	p.S660F		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	660					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTGCAGCTTCCAAAGCACCT	0.567000														22			4		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6553068	6553068	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:6553068G>A	uc001iji.1	-	1	390	c.306C>T	c.(304-306)gtC>gtT	p.V102V	PRKCQ_uc001ijj.2_Silent_p.V69V|PRKCQ_uc009xim.2_Silent_p.V69V|PRKCQ_uc009xin.2_Silent_p.V33V|PRKCQ_uc010qax.2_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	69	C2.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TGATCTGCATGACTCTTCCCT	0.493000														110			52		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231201	7231201	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:7231201G>A	uc010wzk.2	+	0	65	c.65G>A	c.(64-66)gGg>gAg	p.G22E		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	22										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTGTTCACGGGGAGGAGACAG	0.617000														79			10		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51400016	51400016	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:51400016C>T	uc011bds.2	+	48	5227	c.5204C>T	c.(5203-5205)tCg>tTg	p.S1735L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1735	Ser-rich.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.L1734L(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTTCTGTCCTCGTCCCAGGCA	0.562000														47			17		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186459360	186459360	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:186459360G>A	uc011bsa.2	+	9	1409	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	KNG1_uc003fqr.3_Missense_Mutation_p.R392Q|KNG1_uc021xil.1_Missense_Mutation_p.R356Q	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	392					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CGATCATCACGAATAGGGGAA	0.403000														105			18		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179587780	179587780	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:179587780G>A	uc010pnp.2	+	4	1396	c.878G>A	c.(877-879)gGa>gAa	p.G293E	TDRD5_uc021pfm.1_Missense_Mutation_p.G293E|TDRD5_uc001gnf.2_Missense_Mutation_p.G293E|TDRD5_uc021pfn.1_Missense_Mutation_p.G293E|TDRD5_uc001gnh.2_5'UTR	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	293					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GGACCTGGAGGAACTATCAGT	0.313000														83			30		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94044314	94044314	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94044314G>A	uc001ybv.1	+	14	1890	c.1807G>A	c.(1807-1809)Gga>Aga	p.G603R	UNC79_uc001ybs.1_Missense_Mutation_p.G603R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	780						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						CAAGAATTTTGGACACCCAGG	0.423000														122			57		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34698120	34698120	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:34698120T>A	uc003teh.1	+	0	224	c.96T>A	c.(94-96)ttT>ttA	p.F32L	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.F32L|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.F32L|NPSR1_uc003tei.1_Missense_Mutation_p.F32L|NPSR1_uc010kww.1_Missense_Mutation_p.F32L|NPSR1_uc011kar.1_Missense_Mutation_p.F32L	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	32						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.F32C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CAGTGACTTTTACTGAAGTGG	0.498000														71			20		0	0	1	0	0
POLR2E	5434	broad.mit.edu	37	19	1090119	1090119	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:1090119G>A	uc002lre.4	-	4	532	c.455C>T	c.(454-456)aCc>aTc	p.T152I	POLR2E_uc010xgf.2_Non-coding_Transcript	NM_002695	NP_002686	P19388	RPAB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide E, 25kDa (POLR2E), mRNA.	152					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CTCCTCCTTGGTCATGACGAC	0.662000														35			11		0	0	1	0	0
CLDN8	9073	broad.mit.edu	37	21	31588018	31588019	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:31588018_31588019CC>TT	uc002ynu.2	-	0	451_452	c.225_226GG>AA	c.(223-228)ccggac>ccAAac	p.D76N		NM_199328	NP_955360	P56748	CLD8_HUMAN	Homo sapiens claudin 8 (CLDN8), mRNA.	76					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						GCCTGTAGGTCCGGAGAAAGAG	0.510000														72			33		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125148802	125148802	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:125148802G>A	uc004bmg.1	+	8	1222	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	PTGS1_uc011lys.1_Missense_Mutation_p.E338K|PTGS1_uc010mwb.1_Missense_Mutation_p.E254K|PTGS1_uc004bmf.1_Missense_Mutation_p.E363K|PTGS1_uc004bmh.1_Missense_Mutation_p.E254K|PTGS1_uc011lyt.1_Missense_Mutation_p.E254K	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	363					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	ATTTGACCCAGAGCTGCTGTT	0.537000														142			40		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754498	49754498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:49754498G>A	uc003ozu.3	-	0	556	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	135					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTTCCAGAGGGATCTTGGCCC	0.507000														109			7		0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149361299	149361299	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149361299G>A	uc003lrh.3	+	2	2411	c.2143G>A	c.(2143-2145)Gcg>Acg	p.A715T		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	715	STAS.		A -> V (in AO2).			integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGTGTATGAAGCGATGGCTTT	0.403000														94			19		0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52946817	52946817	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52946817C>T	uc001sao.3	-	0	115	c.45G>A	c.(43-45)ggG>ggA	p.G15G		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	15	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CACTGAAGCCCCCCTTGGCGG	0.617000														98			40		0	0	1	0	0
TNFSF15	9966	broad.mit.edu	37	9	117552834	117552834	+	Silent	SNP	G	A	A	rs142354033		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117552834G>A	uc004bjh.3	-	3	770	c.654C>T	c.(652-654)ttC>ttT	p.F218F	TNFSF15_uc004bjg.3_Silent_p.F159F	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	218					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						CTTGCAAGGAGAACATGGCTC	0.488000														82			16		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227895207	227895207	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:227895207G>A	uc021vxr.1	-	39	4026	c.3925C>T	c.(3925-3927)Cca>Tca	p.P1309S	COL4A4_uc021vxs.1_Missense_Mutation_p.P1309S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1309	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTGTATCCTGGAGGGCCTGGT	0.537000														109			33		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27169628	27169628	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:27169628G>A	uc011lno.2	+	4	1070	c.628_splice	c.e4+1	p.R210_splice	TEK_uc010mjc.1_Splice_Site_p.R63_splice|TEK_uc011lnn.1_Splice_Site_p.R210_splice|TEK_uc003zqi.4_Splice_Site_p.R210_splice|TEK_uc011lnp.2_Splice_Site_p.R106_splice|TEK_uc003zqj.1_Splice_Site_p.R187_splice	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	210	EGF-like 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ATAGTCCGGAGTAAGTGATGG	0.478000														59			28		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126241329	126241329	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:126241329G>A	uc003ifj.4	+	0	3763	c.3763G>A	c.(3763-3765)Gaa>Aaa	p.E1255K		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1255	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGAAATGAAGAAAGACAGTT	0.373000														49			11		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56139555	56139555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:56139555C>T	uc002xyn.4	+	7	1367	c.1204C>T	c.(1204-1206)Ccc>Tcc	p.P402S	PCK1_uc010zzm.2_Missense_Mutation_p.P85S	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	402					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TTGTGCCCACCCCAACTCGAG	0.592000														95			34		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56647797	56647797	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:56647797C>T	uc010dcz.2	-	25	4022	c.3904G>A	c.(3904-3906)Gca>Aca	p.A1302T	TEX14_uc002iwr.2_Missense_Mutation_p.A1296T|TEX14_uc002iws.2_Missense_Mutation_p.A1256T|TEX14_uc010dda.2_Missense_Mutation_p.A1036T	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	1302						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGTCACATGCCTTAACAAGG	0.423000														97			43		0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65185747	65185747	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:65185747G>A	uc010wqk.2	-	10	1009	c.822C>T	c.(820-822)acC>acT	p.T274T	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Silent_p.T274T	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGGATTTTTTGGTGCTGACAG	0.353000														126			46		0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43310378	43310378	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:43310378C>T	uc010dnk.3	+	3	483	c.261C>T	c.(259-261)ttC>ttT	p.F87F	SLC14A1_uc002lbi.4_Intron|SLC14A1_uc010xcn.2_Silent_p.F31F|SLC14A1_uc002lbf.4_Silent_p.F31F|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Intron|SLC14A1_uc002lbh.4_Intron|SLC14A1_uc002lbj.4_Silent_p.F87F|SLC14A1_uc002lbk.4_Silent_p.F31F|SLC14A1_uc021ujg.1_Silent_p.F31F	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	31						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GAAGGTGCTTCCCCAAAGCTC	0.488000														84			32		0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57003538	57003538	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:57003538G>A	uc002eki.2	+	3	441	c.384G>A	c.(382-384)caG>caA	p.Q128Q	CETP_uc002ekj.2_Silent_p.Q128Q	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	128					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GTATTGATCAGTCCATTGACT	0.572000														78			10		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947667	237947667	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:237947667G>A	uc001hyl.1	+	89	12775	c.12655G>A	c.(12655-12657)Gaa>Aaa	p.E4219K	RYR2_uc010pya.2_Missense_Mutation_p.E634K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4219					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	p.S4219I(1)		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)			AGCGAATAAGGAAGAAAGCGA	0.537000														55			13		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17774359	17774359	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17774359C>T	uc021uqk.1	-	7	583	c.541G>A	c.(541-543)Ggc>Agc	p.G181S		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	181					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCACCCCAGCCAAAATAATTC	0.537000														17			3		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29293604	29293604	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:29293604G>A	uc002rmt.2	-	0	3524	c.3524C>T	c.(3523-3525)tCg>tTg	p.S1175L		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1175					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCTCCGCTGCGAGTCTGCTCT	0.657000														58			17		0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43153697	43153697	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43153697C>T	uc003ouk.3	+	3	830	c.755C>T	c.(754-756)cCa>cTa	p.P252L	CUL9_uc003ouj.1_Missense_Mutation_p.P252L|CUL9_uc003oul.3_Missense_Mutation_p.P252L|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	252					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTACAGATCCCAGGAAAGCTG	0.507000														48			19		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60768077	60768077	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:60768077G>A	uc002jad.3	+	26	4369	c.3967G>A	c.(3967-3969)Ggc>Agc	p.G1323S	MRC2_uc002jae.3_Missense_Mutation_p.G394S|MRC2_uc002jaf.3_Missense_Mutation_p.G189S	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	1323	C-type lectin 8.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GAGCTATGAGGGCCAGAGTCG	0.612000														48			18		0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64746713	64746713	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:64746713G>A	uc021qzu.1	-	1	376	c.376C>T	c.(376-378)Cta>Tta	p.L126L	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Silent_p.L126L	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	126										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)		AATGGAAATAGGAATTTCCTG	0.333000														49			5		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103299894	103299894	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103299894C>T	uc002tca.3	+	3	1321	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	393						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACTGGGCCTTCGTCTGCTTCA	0.507000														75			8		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10073501	10073501	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10073501C>T	uc002mmq.1	-	64	4931	c.4845G>A	c.(4843-4845)ggG>ggA	p.G1615G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1615	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.R1614G(1)		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)			TCACCTTCTTCCCTCGACGGA	0.552000														15			11		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18715720	18715720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:18715720C>T	uc001rdt.3	+	25	3667	c.3551C>T	c.(3550-3552)cCt>cTt	p.P1184L	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.P1225L|PIK3C2G_uc010sic.2_Missense_Mutation_p.P1003L	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1184					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GCCATAAGCCCTGCCAAATCT	0.393000														14			4		0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46318965	46318965	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:46318965G>A	uc010haa.2	-	3	960	c.833C>T	c.(832-834)tCg>tTg	p.S278L	WNT7B_uc003bgo.2_Missense_Mutation_p.S274L	NM_058238	NP_478679	P56706	WNT7B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7B (WNT7B), mRNA.	274					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GTAGTTGGGCGACTTCTCAAT	0.667000														67			39		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24537774	24537774	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:24537774C>T	uc003jgr.2	-	2	747	c.241G>A	c.(241-243)Gac>Aac	p.D81N	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	81	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		TTATCTTGGTCTGAATGTAGC	0.368000										HNSCC(23;0.051)				50			11		0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36521282	36521282	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:36521282C>T	uc002hqa.3	+	3	1171	c.1050C>T	c.(1048-1050)ccC>ccT	p.P350P	SOCS7_uc010cvl.3_Intron|SOCS7_uc002hqb.3_Non-coding_Transcript	NM_014598	NP_055413	O14512	SOCS7_HUMAN	Homo sapiens suppressor of cytokine signaling 7 (SOCS7), mRNA.	350	Mediates interaction with SORBS3.|Poly-Pro.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	SH3 domain binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					CTCCTCCACCCCATGCCCCAG	0.493000														20			13		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2444192	2444192	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:2444192C>T	uc010qxl.2	-	0	84	c.75G>A	c.(73-75)agG>agA	p.R25R	TRPM5_uc001lwm.4_Silent_p.R25R|TRPM5_uc009ydn.3_Silent_p.R25R	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	25						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGACCTCGCCCCTGTGCAAGC	0.652000														66			7		0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433090	55433090	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55433090G>A	uc010rik.2	+	0	448	c.448G>A	c.(448-450)Gga>Aga	p.G150R		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTGGGTGGGGGGATTTATGCA	0.468000														94			21		0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21542995	21542995	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21542995C>T	uc001vzp.3	+	2	1135	c.1106C>T	c.(1105-1107)cCt>cTt	p.P369L	ARHGEF40_uc001vzn.1_Missense_Mutation_p.P369L|ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_5'UTR	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	369	Gly-rich.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GAAGGACCACCTGGTACCCCT	0.642000														51			10		0	0	1	0	0
STARD3NL	83930	broad.mit.edu	37	7	38247193	38247193	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:38247193C>T	uc003tfr.3	+	1	361	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S		NM_032016	NP_114405	O95772	MENTO_HUMAN	Homo sapiens STARD3 N-terminal like (STARD3NL), mRNA.	30						integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						TTCCATCAACCCCACACAACT	0.507000														87			30		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202161	56202161	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:56202161G>A	uc002lhj.4	-	4	5472	c.5258C>T	c.(5257-5259)gCc>gTc	p.A1753V	ALPK2_uc002lhk.1_Missense_Mutation_p.A1084V	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1753							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTTAAGAAAGGCTGAGTTCTT	0.408000														119			45		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57587458	57587458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57587458C>T	uc001snd.3	+	46	8260	c.7794C>T	c.(7792-7794)atC>atT	p.I2598I	MIR1228_uc021qzh.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2598	LDL-receptor class A 12.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGACGAGATCCCTTGCAACA	0.612000														52			10		0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48538680	48538680	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:48538680C>T	uc010wmm.1	+	3	581	c.477C>T	c.(475-477)tcC>tcT	p.S159S	ACSF2_uc002iqu.2_Silent_p.S134S|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmn.1_Silent_p.S134S|ACSF2_uc010wmo.1_Intron	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	134					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GACCTAACTCCTATGCATGGG	0.587000														23			12		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79382659	79382659	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:79382659C>T	uc002beq.3	-	0	557	c.182G>A	c.(181-183)cGg>cAg	p.R61Q	RASGRF1_uc002bep.3_Missense_Mutation_p.R61Q|RASGRF1_uc002ber.4_Missense_Mutation_p.R61Q	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	61	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCCCGAGGGCCGCGAGCTCGA	0.637000														52			49		0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687402	8687402	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:8687402G>A	uc001quo.1	-	5	657	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	164	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					CTACATCCCAGAAGCTGAAAA	0.408000														53			20		0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28194205	28194205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:28194205G>A	uc003adj.3	-	0	3282	c.2327C>T	c.(2326-2328)tCt>tTt	p.S776F		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	776							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCCGCCACCAGAGCTGCCACC	0.736000			T	ETV6	"""AML, meningioma"""									8			5		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256521	24256521	+	Silent	SNP	G	A	A	rs141164035		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:24256521G>A	uc003xdz.2	+	8	1117	c.897G>A	c.(895-897)ggG>ggA	p.G299G	ADAMDEC1_uc010lub.2_Silent_p.G220G|ADAMDEC1_uc011lab.1_Silent_p.G220G	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	299	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.G299G(2)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CTAACCTGGGGAAAAAGATCC	0.512000														36			17		0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32158230	32158230	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32158230G>A	uc001btk.1	-	14	1492	c.1127C>T	c.(1126-1128)cCg>cTg	p.P376L	COL16A1_uc001btj.1_Missense_Mutation_p.P205L|COL16A1_uc001btl.4_Missense_Mutation_p.P376L	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	376	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTCTCCCTTCGGGCCTTCTGC	0.647000														55			15		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82785996	82785996	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:82785996T>C	uc003kii.3	+	2	506	c.150T>C	c.(148-150)ccT>ccC	p.P50P	VCAN_uc003kij.3_Silent_p.P50P|VCAN_uc010jau.2_Silent_p.P50P|VCAN_uc003kik.3_Silent_p.P50P|VCAN_uc003kih.4_Silent_p.P50P	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	50	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAACGATGCCTACTTTGCCAC	0.438000														93			55		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084665	9084665	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9084665C>T	uc002mkp.3	-	0	7354	c.7150G>A	c.(7150-7152)Gat>Aat	p.D2384N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2384	Ser-rich.|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						TTAGTGACATCCATAGTTGAA	0.473000														27			16		0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149323835	149323835	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149323835G>T	uc003lrg.4	-	0	522	c.402C>A	c.(400-402)ttC>ttA	p.F134L	PDE6A_uc021yfs.1_Missense_Mutation_p.F134L	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	134	GAF 1.				GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.V133I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGTCCAAAGGGAAGACGATCT	0.567000														109			37		6.53348e-20	6.56888e-20	1	1	0
SCIN	85477	broad.mit.edu	37	7	12683868	12683868	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:12683868G>A	uc003ssn.4	+	11	1897	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	SCIN_uc010ktt.3_Intron|SCIN_uc003sso.4_Missense_Mutation_p.E316K	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	563	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	p.E563E(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCAGGAGGAGGAGAAAGGAGC	0.473000														13			5		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7762923	7762923	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:7762923G>A	uc001ijs.3	+	6	897	c.735G>A	c.(733-735)caG>caA	p.Q245Q		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	245					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.Q245Q(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAGGACAACAGAAGGTACCCT	0.502000														95			29		0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617532	54617532	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:54617532G>A	uc022adk.1	+	3	708	c.303G>A	c.(301-303)gtG>gtA	p.V101V	VSTM2A_uc010kzf.3_Silent_p.V101V	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	101	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TTCAGACAGTGAAAGTCCAAG	0.378000														22			7		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348411	140348411	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140348411T>C	uc003lii.3	+	0	2665	c.2060T>C	c.(2059-2061)aTc>aCc	p.I687T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.I687T	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	687	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)			GTTTCCAAAATCCTCCCTGAC	0.443000														61			21		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140740411	140740411	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140740411G>A	uc003ljs.2	+	0	709	c.709G>A	c.(709-711)Gat>Aat	p.D237N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.D237N	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	237	Cadherin 2.				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)			GGATGCCAACGATAACCCTCC	0.567000														61			24		0	0	1	0	0
AV4S1	0	broad.mit.edu	37	14	22671253	22671253	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22671253C>T	uc021rpv.1	+	1	308	c.273C>T	c.(271-273)atC>atT	p.I91I	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_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc010ajm.2_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 320.																		ACTACTGCATCCTGAGAGACC	0.527000														35			4		0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18767566	18767566	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:18767566T>G	uc010exr.3	-	2	324	c.212A>C	c.(211-213)aAg>aCg	p.K71T	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.K131T|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.K71T|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.K131T|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.K114T|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.K148T|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.K131T|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.K71T|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_5'Flank	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	131					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										GGATGGAGCCTTGGTGGATGG	0.468000														89			30		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099642	168099642	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:168099642C>T	uc002udx.3	+	8	1829	c.1740C>T	c.(1738-1740)atC>atT	p.I580I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.I405I|XIRP2_uc010fpq.3_Silent_p.I358I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	405					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTAGATGGATCTTTGAGAATC	0.408000														65			20		0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100687	93100687	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:93100687G>A	uc001tch.2	+	1	731	c.280G>A	c.(280-282)Gat>Aat	p.D94N	C12orf74_uc001tci.3_Missense_Mutation_p.D94N|C12orf74_uc021rbt.1_Missense_Mutation_p.D94N	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	94										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						AAGCCCAAAGGATTCTTCACA	0.572000														56			24		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429349	48429349	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:48429349C>T	uc001jfb.3	-	1	965	c.537G>A	c.(535-537)caG>caA	p.Q179Q	GDF10_uc009xnp.3_Silent_p.Q178Q|GDF10_uc009xnq.2_Silent_p.Q179Q	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	179					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TGGCCGTGTTCTGCGAGAGGC	0.721000														28			4		0	0	1	0	0
PSMB11	122706	broad.mit.edu	37	14	23511881	23511881	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23511881C>T	uc010ake.1	+	0	506	c.447C>T	c.(445-447)gcC>gcT	p.A149A		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 11 (PSMB11), mRNA.	149					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TGGCCACTGCCCTCTGCGGCT	0.617000														56			33		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14797324	14797324	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:14797324C>T	uc003ssz.3	-	1	290	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	DGKB_uc011jxt.2_Missense_Mutation_p.E35K|DGKB_uc003sta.3_Missense_Mutation_p.E35K|DGKB_uc011jxu.2_Missense_Mutation_p.E35K|DGKB_uc011jxv.1_Missense_Mutation_p.E35K	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	35					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|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CCATGGAATTCTTCAAGAACA	0.328000														51			14		0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73662134	73662134	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:73662134C>T	uc001ouo.3	+	0	771	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	7	J.				apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					GATTATTACTCTGTGCTCGGG	0.587000														26			15		0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84811201	84811201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:84811201C>T	uc010fgb.3	+	14	2445	c.2308C>T	c.(2308-2310)Cct>Tct	p.P770S	DNAH6_uc002soo.3_Missense_Mutation_p.P349S|DNAH6_uc002sop.3_Missense_Mutation_p.P349S	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	770	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GCCCACACCTCCTGAAGACTT	0.398000														133			36		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107743504	107743504	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107743504G>A	uc010ljo.1	-	9	1249	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S	LAMB4_uc003vey.2_Missense_Mutation_p.P389S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	389	Laminin EGF-like 2.				cell adhesion	basement membrane		p.P389S(4)|p.P389P(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACGCGTAGGGATCTGAGATG	0.597000														24			9		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155161724	155161724	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:155161724C>T	uc003inw.2	-	22	5959	c.5959G>A	c.(5959-5961)Gat>Aat	p.D1987N		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1987	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGTGGATTATCATTGACATCC	0.393000														45			20		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74285296	74285296	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:74285296C>T	uc003hgs.4	+	12	1798	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	ALB_uc011cbe.2_Silent_p.F254F|ALB_uc003hgw.4_Silent_p.F383F|ALB_uc011cbf.2_Silent_p.F465F	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	575	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGGATGATTTCGCAGCTTTTG	0.413000														75			29		0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128753978	128753978	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:128753978G>A	uc010fmd.2	-	10	1511	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F	SAP130_uc002tpn.2_Missense_Mutation_p.S221F|SAP130_uc002tpp.2_Missense_Mutation_p.S460F|SAP130_uc002tpq.1_Missense_Mutation_p.S433F	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	460					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCGATGTCCGGAGATGGGAAT	0.552000														104			9		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824584	74824584	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:74824584G>A	uc021rwl.1	+	0	1098	c.1098G>A	c.(1096-1098)agG>agA	p.R366R	VRTN_uc001xpw.4_Silent_p.R366R	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	366					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						TGCCCCCCAGGGAGGTGCTGG	0.652000														35			20		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428860	57428860	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:57428860G>A	uc002xzw.3	+	0	825	c.540G>A	c.(538-540)caG>caA	p.Q180Q	GNAS-AS1_uc002xzs.2_5'Flank|GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TTCTCTTACAGGTCCCAGACC	0.632000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				13			8		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74489273	74489273	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74489273C>T	uc002sko.1	-	5	804	c.802G>A	c.(802-804)Gga>Aga	p.G268R	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.G268R|SLC4A5_uc010ffc.1_Missense_Mutation_p.G268R|SLC4A5_uc002skp.1_Missense_Mutation_p.G204R|SLC4A5_uc002sks.1_Missense_Mutation_p.G268R	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	268						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACAGACGTCCGTAATTTGCA	0.597000														42			7		0	0	1	0	0
TRDN	10345	broad.mit.edu	37	6	123687318	123687318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:123687318C>T	uc003pzj.2	-	19	1601	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	TRDN_uc003pzk.2_Missense_Mutation_p.R429Q|TRDN_uc010kem.2_5'UTR	NM_006073	NP_006064	Q13061	TRDN_HUMAN	Homo sapiens triadin (TRDN), transcript variant 1, mRNA.	428					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	p.R428*(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CTCTTTGGCTCGTTCAGTTTC	0.308000														14			8		0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58538273	58538273	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:58538273C>T	uc002enm.3	+	5	756	c.415C>T	c.(415-417)Ccc>Tcc	p.P139S	NDRG4_uc002enk.3_Missense_Mutation_p.P119S|NDRG4_uc010vif.2_Missense_Mutation_p.P119S|NDRG4_uc002eno.3_Missense_Mutation_p.P87S|NDRG4_uc010cdk.3_Missense_Mutation_p.P105S|NDRG4_uc010vig.2_Missense_Mutation_p.P117S|NDRG4_uc010vih.2_Missense_Mutation_p.P32S|NDRG4_uc010vii.2_Missense_Mutation_p.P105S|NDRG4_uc002enp.3_Missense_Mutation_p.P87S|NDRG4_uc002enq.1_5'Flank	NM_001130487	NP_075061	Q9ULP0	NDRG4_HUMAN	Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA.	87					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GTACCAGTTCCCCTCCATGGA	0.677000														164			66		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20565171	20565172	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20565171_20565172CC>TT	uc002dhj.4	-	5	877_878	c.667_668GG>AA	c.(667-669)ggg>AAg	p.G223K	ACSM2B_uc002dhk.4_Missense_Mutation_p.G223K|ACSM2B_uc010bwf.1_Missense_Mutation_p.G223K	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	223					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ACCACTGGTCCCACTAGTGAAG	0.510000														89			11		0	0	1	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60027228	60027228	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:60027228G>A	uc002lin.3	+	5	600	c.562G>A	c.(562-564)Gag>Aag	p.E188K	TNFRSF11A_uc010dpv.3_Missense_Mutation_p.E188K	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	188					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	p.T187A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TCATGGGACAGAGAAATCCGA	0.433000														70			27		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511239	169511239	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:169511239C>T	uc001ggg.1	-	12	3234	c.3089G>A	c.(3088-3090)cGa>cAa	p.R1030Q		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1030	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTCTTTTTTCGTGTCTTAAT	0.408000														243			114		0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156154	146156154	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:146156154G>A	uc003zet.3	-	3	2206	c.2019C>T	c.(2017-2019)atC>atT	p.I673I	ZNF16_uc003zeu.3_Silent_p.I673I	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		ACTGGTGTTTGATCAACTTTG	0.527000														166			35		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6919588	6919588	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6919588G>T	uc002mfw.3	+	12	1488	c.1450G>T	c.(1450-1452)Gtg>Ttg	p.V484L	EMR1_uc010dvc.3_Missense_Mutation_p.V484L|EMR1_uc010dvb.3_Missense_Mutation_p.V432L|EMR1_uc010xji.2_Missense_Mutation_p.V343L|EMR1_uc010xjj.2_Missense_Mutation_p.V307L	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	484	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.F483I(1)		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)					TGTCTCCTTTGTGGGCATGGA	0.453000														101			55		7.41606e-26	7.45967e-26	1	1	0
ZNF121	7675	broad.mit.edu	37	19	9677162	9677162	+	Silent	SNP	G	A	A	rs147272207		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9677162G>A	uc010xkp.1	-	3	859	c.627C>T	c.(625-627)ttC>ttT	p.F209F	ZNF121_uc010dwt.2_Silent_p.F209F|ZNF121_uc010xkq.1_Silent_p.F209F	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	Homo sapiens zinc finger protein 121 (ZNF121), mRNA.	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						AGCGCCCAGCGAAGGCTCTTC	0.418000														60			29		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040467	103040467	+	Silent	SNP	G	A	A	rs11465694		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:103040467G>A	uc002tbx.3	+	3	751	c.267G>A	c.(265-267)tcG>tcA	p.S89S	IL18RAP_uc010fiz.3_Intron	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	89					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AACAACCTTCGAATGGAGATC	0.458000														52			22		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21235111	21235111	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21235111G>A	uc002red.3	-	25	4757	c.4629C>T	c.(4627-4629)tcC>tcT	p.S1543S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1543					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGAGGTGAGGGAGAGGGTTC	0.468000														78			24		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637427	248637427	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248637427C>T	uc001iel.1	+	0	776	c.776C>T	c.(775-777)gCt>gTt	p.A259V		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			CTCTTCGGTGCTTCCTTCTAC	0.552000														353			102		0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169939973	169939973	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:169939973C>T	uc010zdc.2	+	2	740	c.628C>T	c.(628-630)Cct>Tct	p.P210S	DHRS9_uc002uep.3_Missense_Mutation_p.P150S|DHRS9_uc002ueq.3_Missense_Mutation_p.P150S|DHRS9_uc010zdd.2_Missense_Mutation_p.P150S|DHRS9_uc010zde.2_Missense_Mutation_p.P150S	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	150					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AAATATGCTTCCTTTGGTCAA	0.483000														115			39		0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46733199	46733199	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:46733199G>A	uc001cpl.2	+	8	1671	c.960G>A	c.(958-960)cgG>cgA	p.R320R	RAD54L_uc009vye.2_Silent_p.R320R	NM_003579	NP_003570	Q92698	RAD54_HUMAN	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.	320	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity	p.R319W(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCAGCCGGCGGGTGCTCATCT	0.483000								Direct reversal of damage;Homologous recombination						64			35		0	0	1	0	0
PBX4	80714	broad.mit.edu	37	19	19681593	19681593	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19681593G>A	uc002nmy.3	-	2	530	c.243C>T	c.(241-243)ctC>ctT	p.L81L	PBX4_uc010xra.2_5'UTR|PBX4_uc010xqz.2_Non-coding_Transcript	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 4 (PBX4), transcript variant 1, mRNA.	81							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CCAGCCTCAGGAGCTGGGCGT	0.572000														70			32		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107013381	107013381	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:107013381C>T	uc021ser.1	-	218		c.8495G>A								Parts of antibodies, mostly variable regions.																		GAAAACCCAGCTAAGCCCAAA	0.493000														200			36		0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57013143	57013143	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:57013143C>T	uc003pdm.1	+	9	2484	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C	ZNF451_uc003pdl.3_Missense_Mutation_p.R754C|ZNF451_uc003pdn.1_Missense_Mutation_p.R754C|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.R754C	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	754					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R754H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACTGTGGTTTCGCTGCAGTTT	0.413000														33			6		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767302	105767302	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:105767302C>T	uc004bbs.2	+	4	459	c.389C>T	c.(388-390)tCg>tTg	p.S130L		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	130	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ACAACAGATTCGGAATCAGAA	0.318000														38			17		0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19576956	19576956	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:19576956C>T	uc003zoa.2	-	4	1347	c.1194G>A	c.(1192-1194)gaG>gaA	p.E398E	SLC24A2_uc003zob.2_Silent_p.E381E	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	398					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GCCTCTCGTTCTCATCCACAT	0.522000														77			50		0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149578866	149578866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149578866C>T	uc003lrr.3	+	4	1031	c.660C>T	c.(658-660)tgC>tgT	p.C220C		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	220						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TCTGCCTCTGCCTGCTGCTGG	0.637000														68			17		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531888	92531888	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:92531888G>A	uc001pdj.4	+	8	5726	c.5709G>A	c.(5707-5709)ctG>ctA	p.L1903L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1903	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGAGGTTCTGAAAGTTAGTG	0.428000										TCGA Ovarian(4;0.039)				35			10		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123239513	123239513	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:123239513G>A	uc021pzz.1	-	17	2971	c.2324C>T	c.(2323-2325)cCt>cTt	p.P775L	FGFR2_uc021pzv.1_Missense_Mutation_p.P663L|FGFR2_uc021pzw.1_Missense_Mutation_p.P660L|FGFR2_uc021pzx.1_Intron|FGFR2_uc021pzy.1_Missense_Mutation_p.P776L|FGFR2_uc010qtl.2_Missense_Mutation_p.P659L|FGFR2_uc010qtm.2_Missense_Mutation_p.P658L|FGFR2_uc001lfg.4_Missense_Mutation_p.P383L|FGFR2_uc001lfk.1_Non-coding_Transcript	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	775					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)	CTGTTCGAGAGGTTGGCTGAG	0.453000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					136			59		0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270552	84270552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:84270552C>T	uc010voc.2	-	1	661	c.540G>A	c.(538-540)agG>agA	p.R180R	KCNG4_uc002fhu.1_Silent_p.R180R	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	180						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GTACGTCCTCCCTGTGCAGCT	0.677000														29			14		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147108974	147108974	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:147108974C>T	uc011bno.2	-	3	1084	c.898G>A	c.(898-900)Gac>Aac	p.D300N	ZIC4_uc021xfc.1_Non-coding_Transcript|ZIC4_uc021xfd.1_Non-coding_Transcript|ZIC4_uc021xfe.1_Non-coding_Transcript|ZIC4_uc003ewc.2_Missense_Mutation_p.D180N|ZIC4_uc021xff.1_Missense_Mutation_p.D288N|ZIC4_uc003ewd.2_Missense_Mutation_p.D250N|ZIC4_uc021xfg.1_Missense_Mutation_p.D44N	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	250						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TTCTTACGGTCGCTGCTGTTG	0.612000														32			8		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122667443	122667443	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122667443G>A	uc003efz.1	-	2	542	c.238C>T	c.(238-240)Cac>Tac	p.H80Y	SEMA5B_uc011bju.1_Missense_Mutation_p.H22Y|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.H80Y|SEMA5B_uc010hro.1_Missense_Mutation_p.H22Y|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	80					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CTGGAGAGGTGGGACACCAGC	0.627000														42			10		0	0	1	0	0
GLT8D2	83468	broad.mit.edu	37	12	104387256	104387256	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:104387256C>T	uc001tkh.1	-	9	1351	c.794G>A	c.(793-795)gGa>gAa	p.G265E	GLT8D2_uc001tki.1_Missense_Mutation_p.G265E	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	265						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CACCCCTCCTCCCAGGGAGCT	0.458000														41			5		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38993182	38993182	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:38993182G>A	uc002oit.3	+	47	7780	c.7650G>A	c.(7648-7650)ctG>ctA	p.L2550L	RYR1_uc002oiu.3_Silent_p.L2550L|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2550	6 X approximate repeats.		L -> V.		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGCTGGCGCTGAACCGCTACC	0.652000														25			5		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28478684	28478684	+	Missense_Mutation	SNP	G	A	A	rs143710331		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:28478684G>A	uc001zbj.3	-	28	4481	c.4375C>T	c.(4375-4377)Cat>Tat	p.H1459Y		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1459					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCACCTGCATGAACTAAAGAT	0.418000														103			35		0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205033876	205033876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205033876G>A	uc001hbr.3	+	11	1786	c.1517G>A	c.(1516-1518)cGa>cAa	p.R506Q	CNTN2_uc001hbq.1_Missense_Mutation_p.R397Q|CNTN2_uc001hbs.3_Missense_Mutation_p.R294Q	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	506					axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTATCTGTGCGAGGTGAGGGC	0.537000														98			42		0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50398423	50398423	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50398423C>T	uc002pqv.2	-	6	1123	c.294G>A	c.(292-294)gaG>gaA	p.E98E	IL4I1_uc002pqt.1_Silent_p.E89E|IL4I1_uc021uxy.1_Silent_p.E111E|IL4I1_uc002pqu.2_Silent_p.E111E|IL4I1_uc010eno.2_Silent_p.E97E	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	89						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		TGTTATCTGCCTCCAGGATGG	0.662000														39			15		0	0	1	0	0
DEDD2	162989	broad.mit.edu	37	19	42713887	42713887	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42713887G>A	uc002osu.1	-	3	622	c.554C>T	c.(553-555)cCc>cTc	p.P185L	DEDD2_uc002osv.1_Non-coding_Transcript|DEDD2_uc002osw.1_Missense_Mutation_p.P180L|DEDD2_uc010eid.3_Non-coding_Transcript	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	Homo sapiens death effector domain containing 2 (DEDD2), mRNA.	185					RNA processing|activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				AGGTCTGGCGGGCTCTGACTG	0.672000														109			41		0	0	1	0	0
PARP16	54956	broad.mit.edu	37	15	65559098	65559098	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65559098C>T	uc002aoq.3	-	2	575	c.321G>A	c.(319-321)aaG>aaA	p.K107K	PARP16_uc002aoo.3_Silent_p.K107K|PARP16_uc002aop.3_Intron	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 16 (PARP16), mRNA.	107	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GCTTTTGGATCTTTTCAAACT	0.438000														34			6		0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798442	55798442	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55798442C>T	uc010riw.2	+	0	548	c.548C>T	c.(547-549)cCt>cTt	p.P183L		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182Q(1)|p.P183P(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GATATCCCACCTCTTCTGGCT	0.423000														300			84		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14905687	14905687	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:14905687G>A	uc003bzc.3	+	1	2688	c.2578G>A	c.(2578-2580)Gag>Aag	p.E860K	FGD5_uc011avk.2_Missense_Mutation_p.E860K	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	860					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGCCCCCAAAGAGGACCTTAC	0.547000														57			21		0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30653799	30653799	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:30653799G>A	uc001ivb.4	-	8	1755	c.383C>T	c.(382-384)tCc>tTc	p.S128F	MTPAP_uc001ivd.2_Non-coding_Transcript|DQ589067_uc001ive.1_5'Flank	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.	0					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CACCTGAAGGGAGGGGTGCTC	0.647000														13			3		0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97851872	97851872	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:97851872G>A	uc011bgt.2	+	0	331	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TGTAACCACGGAATGTTTTCT	0.408000														220			94		0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41303402	41303402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:41303402C>T	uc001cgh.2	+	12	1893	c.1811C>T	c.(1810-1812)cCc>cTc	p.P604L	KCNQ4_uc001cgi.2_Missense_Mutation_p.P550L	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	604	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GACAAGGGGCCCTCCGACGCG	0.647000														18			7		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589616	11589616	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:11589616G>A	uc001ash.4	+	13	2940	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	934					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)		TCCACAGGAAGCTGTACTTCG	0.667000														85			41		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450887	41450887	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41450887C>T	uc002yyq.1	-	25	4890	c.4438G>A	c.(4438-4440)Gag>Aag	p.E1480K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1480	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCTCCTGCTCCTTTGAGAAC	0.572000														29			6		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632737	122632737	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:122632737G>A	uc003efz.1	-	14	2404	c.2100C>T	c.(2098-2100)ggC>ggT	p.G700G	SEMA5B_uc011bju.1_Silent_p.G642G|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.G700G|SEMA5B_uc010hro.1_Silent_p.G642G|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	700	TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGCAGATGCGGCCCCCGTGGC	0.667000														72			30		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15677785	15677785	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:15677785C>T	uc001rcv.2	+	10	2399	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	PTPRO_uc001rcw.2_Silent_p.F643F	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	643	Fibronectin type-III 7.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGGAATATTTCAACAGTCTGT	0.408000														68			27		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124745472	124745472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124745472C>T	uc001qbc.3	+	14	2481	c.2312C>T	c.(2311-2313)cCc>cTc	p.P771L	ROBO3_uc010saq.2_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.2_5'Flank|ROBO3_uc001qbe.3_5'Flank|ROBO3_uc001qbf.1_5'Flank	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	771	Fibronectin type-III 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCCAGTGGCCCCCCACAGGGA	0.612000														26			6		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175048558	175048558	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175048558G>A	uc001gkl.1	+	2	612	c.499G>A	c.(499-501)Gag>Aag	p.E167K	TNN_uc010pmx.1_Missense_Mutation_p.E167K	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	167	EGF-like 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCCCGCCTGCGAGCGGCTGGC	0.731000														9			4		0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9730691	9730691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:9730691C>T	uc003brz.3	+	15	1509	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	MTMR14_uc003bsa.3_Missense_Mutation_p.S453F|MTMR14_uc003bsb.3_Missense_Mutation_p.S453F|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Missense_Mutation_p.S207F|MTMR14_uc003bsc.3_Non-coding_Transcript|MTMR14_uc021wss.1_Missense_Mutation_p.S76F	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	453						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ATGGAGAGTTCCCCAGGAGCC	0.602000														72			31		0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5892017	5892017	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:5892017C>T	uc002kmx.1	-	0	87	c.46G>A	c.(46-48)Gat>Aat	p.D16N		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	16						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CGGAGTGGATCCTGCTTTCTG	0.612000														28			10		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70954694	70954694	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:70954694G>A	uc001swb.4	-	14	3565	c.3535C>T	c.(3535-3537)Ctc>Ttc	p.L1179F	PTPRB_uc010sto.2_Missense_Mutation_p.L1089F|PTPRB_uc010stp.2_Missense_Mutation_p.L1089F|PTPRB_uc001swc.4_Missense_Mutation_p.L1397F|PTPRB_uc001swa.4_Missense_Mutation_p.L1309F|PTPRB_uc001swd.4_Missense_Mutation_p.L1396F|PTPRB_uc009zrr.2_Missense_Mutation_p.L1276F	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1179	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GACCCCCTGAGATGACTCACA	0.453000														88			51		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012603	189012603	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:189012603G>A	uc011cle.1	-	7	1535	c.1313C>T	c.(1312-1314)cCa>cTa	p.P438L	TRIML2_uc003izj.1_Missense_Mutation_p.P191L|TRIML2_uc003izk.1_Missense_Mutation_p.P171L|TRIML2_uc003izl.2_Missense_Mutation_p.P363L	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	363							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)		GTCTCCATTTGGGATACAGAG	0.453000														104			17		0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246829020	246829020	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:246829020C>T	uc001ibp.3	+	10	2369	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F		NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	664					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	p.S664S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GGAGGTGGCTCCTGTATTTTG	0.428000														64			28		0	0	1	0	0
STAP2	55620	broad.mit.edu	37	19	4327185	4327185	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:4327185G>A	uc002mab.3	-	7	890	c.699C>T	c.(697-699)ttC>ttT	p.F233F	STAP2_uc002mac.3_Silent_p.F233F|STAP2_uc021unb.1_Silent_p.F233F|STAP2_uc021unc.1_Silent_p.F233F|STAP2_uc002mad.3_Silent_p.F126F	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	Homo sapiens signal transducing adaptor family member 2 (STAP2), transcript variant 2, mRNA.	233	SH2.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TATGCGACACGAAATAGTTGA	0.617000														56			8		0	0	1	0	0
STK4	6789	broad.mit.edu	37	20	43623872	43623872	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:43623872C>T	uc002xnb.3	+	5	757	c.667C>T	c.(667-669)Cct>Tct	p.P223S	STK4_uc010ggx.3_Missense_Mutation_p.P223S|STK4_uc010ggy.3_Missense_Mutation_p.P168S|STK4_uc010ggw.1_Missense_Mutation_p.P223S	NM_006282	NP_006273	Q13043	STK4_HUMAN	Homo sapiens serine/threonine kinase 4 (STK4), mRNA.	223	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				AGGAAAGCCCCCTTATGCTGA	0.448000														68			22		0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186338496	186338496	+	Missense_Mutation	SNP	C	T	T	rs145128363		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:186338496C>T	uc003fqk.4	+	6	962	c.881C>T	c.(880-882)cCc>cTc	p.P294L		NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	294					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCTGGCTCACCCCCAGACTCC	0.637000														179			39		0	0	1	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176768298	176768298	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:176768298G>A	uc003fiw.4	-	5	788	c.528C>T	c.(526-528)gcC>gcT	p.A176A	TBL1XR1_uc003fix.4_Silent_p.A176A|TBL1XR1_uc011bpz.2_Intron	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	Homo sapiens transducin (beta)-like 1 X-linked receptor 1 (TBL1XR1), mRNA.	176					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			CAGGGTTCCAGGCACAGATAA	0.363000														28			8		0	0	1	0	0
KAZALD1	81621	broad.mit.edu	37	10	102822738	102822738	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:102822738C>T	uc001ksr.3	+	1	1314	c.389C>T	c.(388-390)tCg>tTg	p.S130L	KAZALD1_uc001kss.4_Non-coding_Transcript|KAZALD1_uc001kst.1_Missense_Mutation_p.S130L	NM_030929	NP_112191	Q96I82	KAZD1_HUMAN	Homo sapiens Kazal-type serine peptidase inhibitor domain 1 (KAZALD1), mRNA.	130	Kazal-like.				cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding			endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GCCTGTCGTTCGCAGAGTCCG	0.687000														21			8		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18044404	18044404	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:18044404G>A	uc021trm.1	+	20	5697	c.5478G>A	c.(5476-5478)agG>agA	p.R1826R	MYO15A_uc021trl.1_Silent_p.R1824R	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1826	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGACCGTGAGGATCCGCAAGG	0.552000											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			11		0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103592516	103592516	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:103592516C>T	uc003hwg.3	-	8	1252	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	MANBA_uc011ces.2_Missense_Mutation_p.M327I	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	384					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GAAGAGTATTCATATTAGCAT	0.353000														35			18		0	0	1	0	0
PTHLH	5744	broad.mit.edu	37	12	28116375	28116375	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:28116375G>A	uc001rik.3	-	2	733	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	PTHLH_uc001ril.3_Missense_Mutation_p.R144C|PTHLH_uc001rim.3_Missense_Mutation_p.R144C|PTHLH_uc001rin.3_Missense_Mutation_p.R144C	NM_198966	NP_945317	P12272	PTHR_HUMAN	Homo sapiens parathyroid hormone-like hormone (PTHLH), transcript variant 4, mRNA.	144					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					CAGGCAGAGCGAGTTCGCCGT	0.552000														74			35		0	0	1	0	0
ESD	2098	broad.mit.edu	37	13	47355713	47355713	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:47355713G>A	uc001vbn.3	-	6	602	c.419C>T	c.(418-420)cCc>cTc	p.P140L	ESD_uc001vbp.1_5'UTR	NM_001984	NP_001975	P10768	ESTD_HUMAN	Homo sapiens esterase D (ESD), mRNA.	140						cytoplasmic membrane-bounded vesicle	S-formylglutathione hydrolase activity|carboxylesterase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CATCCTTTGGGGATCCACTGG	0.353000														131			43		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99319926	99319926	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:99319926C>T	uc003uru.3	-	2	314	c.211G>A	c.(211-213)Gtc>Atc	p.V71I	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.	71			V -> A (in dbSNP:rs45580339).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.V71V(1)		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)					CACCCCCAGACTTTTCTATAC	0.393000														87			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059860	9059860	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9059860C>T	uc002mkp.3	-	2	27790	c.27586G>A	c.(27586-27588)Gaa>Aaa	p.E9196K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9198	Ser-rich.|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						GAACTGGTTTCAGGTTCTGAG	0.493000														75			39		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24563606	24563606	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:24563606G>A	uc011djo.2	-	15	3072	c.2572C>T	c.(2572-2574)Cgg>Tgg	p.R858W	KIAA0319_uc011djp.2_Missense_Mutation_p.R813W|KIAA0319_uc003neh.1_Missense_Mutation_p.R858W|KIAA0319_uc011djq.1_Missense_Mutation_p.R849W|KIAA0319_uc011djr.1_Missense_Mutation_p.R858W|KIAA0319_uc010jpt.1_Missense_Mutation_p.R269W	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	858					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GAGTGGGCCCGAATCTTCTGG	0.567000														39			18		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136144	55136144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55136144G>A	uc010rif.2	+	0	785	c.785G>A	c.(784-786)cGa>cAa	p.R262Q		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GAAGGGAAACGAAAAGCTTTC	0.438000														123			56		0	0	1	0	0
LRRC47	57470	broad.mit.edu	37	1	3703511	3703511	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3703511G>A	uc001akx.1	-	1	1007	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	Homo sapiens leucine rich repeat containing 47 (LRRC47), mRNA.	327					translation		RNA binding|phenylalanine-tRNA ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CGGACCTCGGGGCTCACTCTG	0.647000														12			4		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935870	30935870	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:30935870G>A	uc002nsu.1	+	1	1539	c.1401G>A	c.(1399-1401)ggG>ggA	p.G467G	ZNF536_uc010edd.1_Silent_p.G467G	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G467R(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGCGCTGGGGAAGCTGCTGT	0.642000														61			17		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36872640	36872640	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36872640C>T	uc003cgj.3	-	20	8550	c.8302G>A	c.(8302-8304)Gag>Aag	p.E2768K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2768					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTGTTCCTCTCCTGACACTCC	0.537000														84			44		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179737040	179737040	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179737040C>T	uc002une.2	-	13	2018	c.1900_splice	c.e13-1	p.A634_splice	CCDC141_uc002unf.1_Splice_Site_p.A113_splice	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	59							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTCTTTTGCCTGTTAAATTA	0.338000														50			18		0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205273193	205273193	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:205273193C>T	uc001hce.3	-	6	1399	c.1272G>A	c.(1270-1272)gaG>gaA	p.E424E		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	424					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCGGAGGGTCCTCCTGTACCC	0.627000														66			47		0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4834032	4834032	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:4834032C>T	uc002cxq.3	-	4	676	c.412G>A	c.(412-414)Gag>Aag	p.E138K	SEPT12_uc002cxr.3_Intron|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	138					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						AGGTACTGCTCGTATTGCTCG	0.632000														150			14		0	0	1	0	0
GNL3L	54552	broad.mit.edu	37	X	54578016	54578016	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:54578016C>T	uc022bxi.1	+	10	1135	c.879C>T	c.(877-879)gtC>gtT	p.V293V	GNL3L_uc004dti.3_Non-coding_Transcript|GNL3L_uc004dth.2_Silent_p.V293V	NM_001184819	NP_061940	Q9NVN8	GNL3L_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar)-like (GNL3L), transcript variant 1, mRNA.	293	G.				ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TGCAGGAGGTCTACCTGGACA	0.587000														23			6		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43680255	43680255	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43680255C>T	uc002ovu.3	-	2	607	c.476G>A	c.(475-477)aGg>aAg	p.R159K	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.R159K	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	159	Ig-like C2-type 1.				female pregnancy	extracellular region		p.P158S(1)|p.P158P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CTTATTCTCCCTGGGTTTTGA	0.493000														261			112		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196883708	196883708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:196883708G>A	uc001gtp.3	+	7	1401	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.E421K|CFH_uc001gto.3_Missense_Mutation_p.E175K	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	780	Sushi 7.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATTGGACTACGAATGCTACGA	0.393000														64			14		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28755047	28755048	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:28755047_28755048CC>TT	uc002rmb.2	+	8	585_586	c.541_542CC>TT	c.(541-543)ccc>TTc	p.P181F	PLB1_uc010ezj.2_Missense_Mutation_p.P181F	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	181	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.P181P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TTACCTGTGCCCCTCTGCTCAA	0.480000														158			33		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13322932	13322932	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:13322932G>A	uc002mwy.3	-	42	6524	c.6288C>T	c.(6286-6288)ctC>ctT	p.L2096L	CACNA1A_uc002mwx.3_Silent_p.L802L|CACNA1A_uc010dzc.2_Silent_p.L1622L|CACNA1A_uc010xnd.2_Silent_p.L2099L|CACNA1A_uc021ups.1_Silent_p.L2096L|CACNA1A_uc010xne.2_Silent_p.L2099L|CACNA1A_uc010dze.2_Silent_p.L2096L|CACNA1A_uc021upt.1_Silent_p.L2097L|CACNA1A_uc002mwv.3_Silent_p.L613L	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	2097					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCTCTGCAGGGAGGCGGGGCA	0.667000														39			9		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	38997504	38997504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:38997504C>T	uc011aej.1	-	3	1282	c.1229G>A	c.(1228-1230)aGa>aAa	p.R410K	KCNJ6_uc002ywo.2_Missense_Mutation_p.R410K	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	410					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ATCACCATTTCTTTCTGTTTG	0.478000														207			54		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138169253	138169253	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:138169253G>A	uc002tva.1	+	12	2677	c.2677G>A	c.(2677-2679)Gat>Aat	p.D893N	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.D783N	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)		ATGTCCTTGTGATGAATTTAT	0.453000														87			48		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151134155	151134155	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:151134155C>T	uc003eyp.3	+	40	6377	c.6248C>T	c.(6247-6249)tCg>tTg	p.S2083L	MED12L_uc011bnz.2_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2083	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			cagcagTCCTCGCAGTCCCAG	0.532000														71			21		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933292	44933292	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44933292C>T	uc002oze.1	-	5	2098	c.1664G>A	c.(1663-1665)cGg>cAg	p.R555Q	ZNF229_uc010ejk.1_Missense_Mutation_p.R209Q|ZNF229_uc010ejl.1_Missense_Mutation_p.R549Q	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GTCGGAGCTCCGGCCAAAGCT	0.532000														105			14		0	0	1	0	0
FGD4	121512	broad.mit.edu	37	12	32760940	32760940	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:32760940C>T	uc010ske.2	+	7	1463	c.1379C>T	c.(1378-1380)cCt>cTt	p.P460L	FGD4_uc001rlc.3_Missense_Mutation_p.P433L|FGD4_uc001rky.3_Missense_Mutation_p.P100L|FGD4_uc001rkz.3_Missense_Mutation_p.P348L|FGD4_uc001rla.3_Missense_Mutation_p.P4L|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	348	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ATGCTAGAACCTGTTCAGCGG	0.393000														131			61		0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124519294	124519294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:124519294C>T	uc004bln.3	+	3	350	c.281C>T	c.(280-282)tCc>tTc	p.S94F	DAB2IP_uc004blo.3_5'UTR	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	122					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CACCCCAGGTCCCATCTGATG	0.667000														55			19		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37731005	37731005	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:37731005G>A	uc004aag.1	+	8	807	c.763G>A	c.(763-765)Gac>Aac	p.D255N	FRMPD1_uc004aah.1_Missense_Mutation_p.D255N|FRMPD1_uc011lqm.2_Missense_Mutation_p.D77N|FRMPD1_uc011lqn.2_Missense_Mutation_p.D124N	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	255	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGAGTCACATGACTACCGCTG	0.502000														56			17		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134886335	134886335	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:134886335C>T	uc001llw.3	+	2	369	c.369C>T	c.(367-369)ttC>ttT	p.F123F				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	505						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCTCAGGGTTCTTGGGACCTG	0.582000														18			8		0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202617958	202617958	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:202617958G>A	uc002uyo.3	-	6	2004	c.1648C>T	c.(1648-1650)Ccg>Tcg	p.P550S	ALS2_uc002uyp.4_Missense_Mutation_p.P550S|ALS2_uc002uyq.3_Missense_Mutation_p.P550S	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	550					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACACACAACGGTTGAAGCCTT	0.413000														70			34		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744643	37744643	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:37744643G>A	uc004aag.1	+	15	2658	c.2614G>A	c.(2614-2616)Gag>Aag	p.E872K	FRMPD1_uc004aah.1_Missense_Mutation_p.E872K	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	872						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTATGACAGGGAGCCCTACCT	0.592000														43			16		0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68598372	68598372	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:68598372C>T	uc010cff.3	+	4	1974	c.1682C>T	c.(1681-1683)gCc>gTc	p.A561V	ZFP90_uc002ewb.3_3'UTR|ZFP90_uc002ewc.3_3'UTR|ZFP90_uc002ewd.3_Missense_Mutation_p.A561V|ZFP90_uc002ewe.3_Missense_Mutation_p.A561V	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	561					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TGTGGGAAAGCCTTTAGTCAA	0.438000														118			29		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23239966	23239966	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:23239966G>T	uc009vqj.1	+	15	3009	c.2864G>T	c.(2863-2865)cGg>cTg	p.R955L	EPHB2_uc001bge.3_Missense_Mutation_p.R956L|EPHB2_uc001bgf.3_Missense_Mutation_p.R955L|EPHB2_uc010odu.2_Missense_Mutation_p.R897L	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	955	SAM.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GACATTCTCCGGGTTGGGGTC	0.552000														38			6		2.0095e-06	2.01326e-06	1	1	0
OR7D4	125958	broad.mit.edu	37	19	9324768	9324768	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9324768G>A	uc002mla.2	-	0	780	c.746C>T	c.(745-747)tCc>tTc	p.S249F		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ATAGAACAAGGAGACCACACA	0.517000														52			24		0	0	1	0	0
SET	6418	broad.mit.edu	37	9	131455961	131455961	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:131455961G>A	uc004bvt.4	+	5	817	c.576G>A	c.(574-576)agG>agA	p.R192R	SET_uc022bol.1_Silent_p.R170R|SET_uc004bvu.4_Silent_p.R179R|SET_uc011mbj.2_Silent_p.R168R	NM_001122821	NP_001116293	Q01105	SET_HUMAN	Homo sapiens SET nuclear oncogene (SET), transcript variant 1, mRNA.	192					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		AAGCCAGCAGGAAGAGGCAGC	0.438000			T	NUP214	AML									70			7		0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46133190	46133190	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46133190G>A	uc003oxz.1	-	2	1148	c.940C>T	c.(940-942)Caa>Taa	p.Q314*	ENPP5_uc010jzc.1_Nonsense_Mutation_p.Q314*|ENPP5_uc011dvz.1_Nonsense_Mutation_p.Q220*|ENPP5_uc003oya.1_Nonsense_Mutation_p.Q314*	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	314						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ATGATTGGTTGAATTCGACTG	0.383000														145			69		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179650730	179650730	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179650730C>T	uc021vsy.1	-	13	2440	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	TTN_uc021vsz.1_Missense_Mutation_p.E693K|TTN_uc021vta.1_Missense_Mutation_p.E693K|TTN_uc021vtb.1_Missense_Mutation_p.E693K|TTN_uc002unb.2_Missense_Mutation_p.E739K|TTN_uc010frg.1_Missense_Mutation_p.E321K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	739							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G738R(1)		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)			GAAATGCGTTCCTTATATCCG	0.552000														69			29		0	0	1	0	0
PPIA	5478	broad.mit.edu	37	7	44839450	44839450	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:44839450C>T	uc003tlw.3	+	3	422	c.339C>T	c.(337-339)ttC>ttT	p.F113F	PPIA_uc003tlx.3_Non-coding_Transcript|PPIA_uc010kyl.3_Non-coding_Transcript	NM_021130	NP_066953	P62937	PPIA_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A) (PPIA), mRNA.	113	PPIase cyclophilin-type.				RNA-dependent DNA replication|entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	CCCAGTTTTTCATCTGCACTG	0.468000														83			39		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78071053	78071053	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:78071053G>A	uc010dht.3	+	18	3062	c.3031G>A	c.(3031-3033)Gag>Aag	p.E1011K	CCDC40_uc002jxm.4_Missense_Mutation_p.E794K|CCDC40_uc002jxn.4_Missense_Mutation_p.E407K	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	1011					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGCCACCGATGAGTGCACCAA	0.572000														80			20		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075173	9075173	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9075173C>T	uc002mkp.3	-	2	12477	c.12273G>A	c.(12271-12273)atG>atA	p.M4091I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4093	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.M4091I(6)|p.G4090V(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						TAGCAAGGATCATTCCTCCAG	0.527000														61			27		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43099815	43099815	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43099815C>T	uc011dve.1	+	5	940	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	PTK7_uc003oub.1_Missense_Mutation_p.R292W|PTK7_uc003ouc.1_Missense_Mutation_p.R292W|PTK7_uc003oud.1_Missense_Mutation_p.R292W|PTK7_uc003oue.1_Missense_Mutation_p.R292W|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.3_Missense_Mutation_p.R292W	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	292	Ig-like C2-type 3.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R292W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GACCCAGGTCCGGCCACGCAA	0.617000														56			26		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166893029	166893029	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:166893029G>A	uc002udo.4	-	17	3185	c.2958C>T	c.(2956-2958)ctC>ctT	p.L986L	SCN1A_uc010fpk.3_Silent_p.L958L|SCN1A_uc021vsb.1_Silent_p.L975L	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	986			L -> F (in SMEI; complete loss of function; dbSNP:rs121918625).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGGCCAGAAAGAGATTCAGGA	0.363000														37			13		0	0	1	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84567100	84567100	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:84567100G>A	uc003pke.3	+	3	530	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	CYB5R4_uc003pkf.3_5'Flank	NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN	Homo sapiens ripply2 homolog (zebrafish) (RIPPLY2), mRNA.	127					somite rostral/caudal axis specification	nucleus		p.C126S(1)		large_intestine(2)|lung(4)|urinary_tract(1)	7						TCTGACCTGTGAAAATTAATC	0.289000														63			30		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78401191	78401191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:78401191C>T	uc001syp.3	+	7	2046	c.1873C>T	c.(1873-1875)Ccg>Tcg	p.P625S	NAV3_uc001syo.3_Missense_Mutation_p.P625S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	625						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.P625Q(1)		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						ACATAGCCACCCGAATACCGC	0.478000										HNSCC(70;0.22)				104			33		0	0	1	0	0
ARL10	285598	broad.mit.edu	37	5	175793522	175793522	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:175793522C>T	uc003meb.3	+	1	388	c.323C>T	c.(322-324)cCc>cTc	p.P108L	ARL10_uc003mec.1_Missense_Mutation_p.P108L	NM_173664	NP_775935	Q8N8L6	ARL10_HUMAN	Homo sapiens ADP-ribosylation factor-like 10 (ARL10), mRNA.	108							GTP binding			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GGCCACATCCCCACCTGGGGC	0.637000														52			10		0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524322	37524322	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37524322C>T	uc003aqv.1	-	9	1601	c.1470G>A	c.(1468-1470)gaG>gaA	p.E490E		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	490					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCAGCACCAGCTCAGGGGGTG	0.667000														37			12		0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33639752	33639752	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:33639752C>T	uc002nui.3	+	4	693	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	205								p.F205F(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TCTCAGGCTTCGACGTGGATC	0.493000														161			61		0	0	1	0	0
CTAG2	30848	broad.mit.edu	37	X	153881735	153881735	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:153881735C>T	uc004fmi.2	-	0	119	c.55G>A	c.(55-57)Gga>Aga	p.G19R	CTAG2_uc004fmh.2_Missense_Mutation_p.G19R	NM_020994	NP_066274	O75638	CTAG2_HUMAN	Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.	19	Gly-rich.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGGGCCTCCTGGGCCATCA	0.721000														7			4		0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7802241	7802241	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:7802241G>A	uc011bwk.1	-	9	1467	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	AFAP1_uc003gkg.1_Silent_p.I398I	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	398	PH 2.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CCAAACCCGGGATCACCTCGC	0.542000														33			21		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35927567	35927567	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:35927567C>T	uc003olm.3	-	14	1766	c.1655G>A	c.(1654-1656)gGg>gAg	p.G552E	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.G134E|SLC26A8_uc003oll.3_Missense_Mutation_p.G447E|SLC26A8_uc003oln.3_Missense_Mutation_p.G552E	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	552	STAS.				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						GATTTTCACCCCAGGAATGGT	0.383000														62			29		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052500	15052501	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:15052500_15052501CC>GT	uc010xoc.2	+	0	200_201	c.200_201CC>GT	c.(199-201)tcc>tGT	p.S67C		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TCCAACCTGTCCTTTGCTGACA	0.480000														77			17		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97078439	97078439	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:97078439C>T	uc021rcc.1	+	7	1083	c.1005C>T	c.(1003-1005)gcC>gcT	p.A335A				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	335										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTCTCCAAGCCAGCAATCAAA	0.308000														105			7		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346952	89346952	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:89346952G>A	uc002fmx.1	-	8	6459	c.5998C>T	c.(5998-6000)Ctc>Ttc	p.L2000F	ANKRD11_uc002fmy.1_Missense_Mutation_p.L2000F|ANKRD11_uc002fnc.1_Missense_Mutation_p.L2000F|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.L1957F	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2000	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCAGAGTGGAGGGGGTCCGCG	0.701000														30			11		0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782979	115782979	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:115782979G>T	uc003krx.4	-	19	3183	c.2474C>A	c.(2473-2475)tCc>tAc	p.S825Y	SEMA6A_uc010jck.3_Missense_Mutation_p.S808Y|SEMA6A_uc011cwe.2_Missense_Mutation_p.S187Y|SEMA6A_uc003krv.4_Missense_Mutation_p.S235Y|SEMA6A_uc003krw.4_Missense_Mutation_p.S285Y|SEMA6A_uc010jcj.3_Missense_Mutation_p.S352Y	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	808					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GTGGCTGGGGGAGGCCCGCAG	0.642000														64			26		9.04412e-07	9.06295e-07	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105414808	105414808	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:105414808G>A	uc010axc.1	-	6	7100	c.6980C>T	c.(6979-6981)tCg>tTg	p.S2327L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S2227L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2327						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCCCAAACGACAGCATCTT	0.602000														362			33		0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9225552	9225552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9225552C>T	uc021uoi.1	-	0	888	c.888G>A	c.(886-888)gaG>gaA	p.E296E	OR7G1_uc002mks.1_Silent_p.E296E	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	296					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						CTTTCTTCATCTCCTTATTTC	0.413000														120			50		0	0	1	0	0
TM6SF1	53346	broad.mit.edu	37	15	83781639	83781639	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:83781639C>T	uc002bjp.3	+	1	292	c.183C>T	c.(181-183)gaC>gaT	p.D61D	TM6SF1_uc010bmq.3_Silent_p.D61D|TM6SF1_uc002bjq.3_Silent_p.D61D|TM6SF1_uc010bmr.3_Non-coding_Transcript	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA.	61						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CACCCCGGGACCCACTGTTCT	0.478000														143			23		0	0	1	0	0
PION	54103	broad.mit.edu	37	7	77004407	77004407	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:77004407G>A	uc003ugf.3	-	10	832	c.753C>T	c.(751-753)ccC>ccT	p.P251P	PION_uc003ugg.1_Silent_p.P36P	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	251					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATATGTCCAAGGGTACTTCAA	0.318000														40			11		0	0	1	0	0
TMEM211	255349	broad.mit.edu	37	22	25334143	25334143	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:25334143G>A	uc003abk.1	-	1	125	c.100C>T	c.(100-102)Cca>Tca	p.P34S		NM_001001663	NP_001001663	Q6ICI0	TM211_HUMAN	Homo sapiens transmembrane protein 211 (TMEM211), mRNA.	105						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CCTGGCATTGGAACACTGCTT	0.512000														77			14		0	0	1	0	0
DDX25	29118	broad.mit.edu	37	11	125780323	125780323	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:125780323G>A	uc001qcz.4	+	6	713	c.572G>A	c.(571-573)gGa>gAa	p.G191E	DDX25_uc010sbk.2_Missense_Mutation_p.G191E	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	191	Helicase ATP-binding.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.E191Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		GAGCAGATGGGAAAATTCTGT	0.483000														102			11		0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66084128	66084128	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:66084128C>T	uc001ohm.1	-	0	388	c.371G>A	c.(370-372)gGc>gAc	p.G124D		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	124	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CGGGCAGGGGCCTCCAGAGGC	0.711000														29			13		0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1078005	1078005	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1078005C>T	uc003jbu.3	-	11	1638	c.1572G>A	c.(1570-1572)acG>acA	p.T524T		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	524					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCGGTGCCCCCGTGAGGCTCT	0.692000														15			4		0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140267448	140267448	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140267448G>A	uc004cmp.2	-	4	567	c.371C>T	c.(370-372)cCa>cTa	p.P124L	EXD3_uc010ncg.1_Missense_Mutation_p.P63L|EXD3_uc004cmr.3_Missense_Mutation_p.P63L|EXD3_uc004cms.3_Missense_Mutation_p.P124L	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	124					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GCTGGCCAGTGGTGCCGCAAG	0.642000														57			11		0	0	1	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315777	73315777	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:73315777G>A	uc002siu.4	-	2	1210	c.969C>T	c.(967-969)gaC>gaT	p.D323D	RAB11FIP5_uc002sit.4_Silent_p.D245D	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	323					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GGCCCTGAAGGTCCAGAAGGG	0.622000														25			11		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137852557	137852557	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:137852557G>A	uc002tva.1	+	2	972	c.972G>A	c.(970-972)ggG>ggA	p.G324G	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Silent_p.G214G	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)		GCCGTTCAGGGAGTCTCTTGC	0.537000														64			30		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949180	27949180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:27949180G>A	uc003zqv.1	-	6	2140	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	LINGO2_uc010mjf.1_Missense_Mutation_p.S497F|LINGO2_uc003zqu.1_Missense_Mutation_p.S497F|LINGO2_uc022bfc.1_Missense_Mutation_p.S497F	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	497	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CACAGTTAAGGAGGCTGTGAA	0.483000														84			20		0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104432603	104432603	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:104432603C>T	uc003yln.3	+	1	915	c.638C>T	c.(637-639)tCg>tTg	p.S213L	DCAF13_uc003ylm.1_Intron	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	61					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTCCTTGCTTCGCTGGATGGT	0.458000														45			23		0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79384754	79384754	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:79384754C>T	uc002sod.2	-	3	752	c.404G>A	c.(403-405)aGa>aAa	p.R135K	REG3A_uc002soe.2_Missense_Mutation_p.R135K|REG3A_uc002sof.2_Missense_Mutation_p.R135K	NM_138938	NP_620355	Q06141	REG3A_HUMAN	Homo sapiens regenerating islet-derived 3 alpha (REG3A), transcript variant 2, mRNA.	135	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						GGAGGGATTTCTCTCCCATGC	0.537000														94			38		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28592681	28592681	+	Missense_Mutation	SNP	C	T	T	rs148480385		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:28592681C>T	uc001urw.3	-	19	2546	c.2464G>A	c.(2464-2466)Ggg>Agg	p.G822R	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Intron	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	822	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACCACTTTCCCGTGGGTGACA	0.463000			"""Mis, O"""		"""AML, ALL"""									72			17		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540465	133540465	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:133540465C>T	uc002ttp.3	-	13	4293	c.3919G>A	c.(3919-3921)Gag>Aag	p.E1307K	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1307							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTGCCTCTCTCGGCGGTATTG	0.567000														63			26		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41333221	41333221	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:41333221C>T	uc001rmm.1	+	11	1426	c.1313C>T	c.(1312-1314)cCt>cTt	p.P438L	CNTN1_uc009zjy.2_Missense_Mutation_p.P438L|CNTN1_uc001rmn.1_Missense_Mutation_p.P427L|CNTN1_uc001rmo.3_Missense_Mutation_p.P438L	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	438	Ig-like C2-type 5.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane		p.K437E(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAATGCAAACCTAAAGCTGCA	0.398000														41			24		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135202	156135202	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:156135202G>A	uc003ioq.3	+	1	600	c.111G>A	c.(109-111)gaG>gaA	p.E37E	NPY2R_uc003ior.3_Silent_p.E37E|NPY2R_uc021xtm.1_Silent_p.E37E	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	37					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CTGACCCTGAGCCAGAGCTTA	0.483000														67			20		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152470822	152470822	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:152470822G>A	uc021vrb.1	-	71	10869	c.10840C>T	c.(10840-10842)Cag>Tag	p.Q3614*	NEB_uc002txu.3_Nonsense_Mutation_p.Q3857*|NEB_uc021vrc.1_Nonsense_Mutation_p.Q3857*|NEB_uc010fnx.3_Nonsense_Mutation_p.Q3602*|NEB_uc021vrd.1_Nonsense_Mutation_p.Q3614*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3614					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCCGAGCCTGAATGACGTCA	0.473000														96			43		0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39724454	39724454	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39724454C>T	uc002hxe.4	-	5	1420	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	452	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TGGTAGGTCTCGATTTCCTTC	0.552000														24			20		0	0	1	0	0
CDK2AP1	8099	broad.mit.edu	37	12	123751787	123751787	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:123751787G>A	uc001ueq.3	-	1	620	c.98C>T	c.(97-99)tCa>tTa	p.S33L		NM_004642	NP_004633	O14519	CDKA1_HUMAN	Homo sapiens cyclin-dependent kinase 2 associated protein 1 (CDK2AP1), mRNA.	33					DNA-dependent DNA replication|S phase of mitotic cell cycle|protein phosphorylation	cytoplasm|nucleus	DNA binding|protein binding			lung(2)|stomach(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000554)|Epithelial(86;0.00178)		GCGGTACTGTGAAGACGTTGC	0.622000														78			23		0	0	1	0	0
SPPL2B	56928	broad.mit.edu	37	19	2352957	2352957	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:2352957C>T	uc002lvs.3	+	15	1606	c.1526C>T	c.(1525-1527)cCa>cTa	p.P509L	SPPL2B_uc002lvr.3_3'UTR	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	Homo sapiens signal peptide peptidase-like 2B (SPPL2B), transcript variant 2, mRNA.	510	Pro-rich.					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		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)		GTCCTACCTCCATCTCCGTGG	0.682000														26			12		0	0	1	0	0
WHAMMP2	440253	broad.mit.edu	37	15	28986388	28986388	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:28986388G>A	uc010azf.3	+	1		c.736G>A			WHAMMP2_uc010uap.2_Non-coding_Transcript|WHAMMP2_uc010azg.1_Non-coding_Transcript|WHAMMP2_uc010azh.1_Non-coding_Transcript|WHAMMP2_uc001zci.1_Non-coding_Transcript					Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2 (WHAMMP2), non-coding RNA.																		GCCATTTAGGGCTATGCGAGA	0.328000														17			6		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127671201	127671201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:127671201C>T	uc003kuu.3	-	28	4232	c.3793G>A	c.(3793-3795)Gaa>Aaa	p.E1265K	FBN2_uc003kuv.2_Missense_Mutation_p.E1232K	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1265	EGF-like 19; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAGCTGCATTCGTAGCTTCCC	0.433000														165			70		0	0	1	0	0
GSDMB	55876	broad.mit.edu	37	17	38062518	38062518	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:38062518G>A	uc010cwj.3	-	7	865	c.734C>T	c.(733-735)tCt>tTt	p.S245F	GSDMB_uc010cwi.3_5'UTR|GSDMB_uc010cwl.3_Non-coding_Transcript|GSDMB_uc010cwm.3_Non-coding_Transcript|GSDMB_uc010cwk.3_Non-coding_Transcript|GSDMB_uc002htg.3_Missense_Mutation_p.S223F|GSDMB_uc002hth.3_Missense_Mutation_p.S232F|GSDMB_uc010wem.2_Missense_Mutation_p.S236F	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	240			D -> G (in a breast cancer sample; somatic mutation).			cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CGAACCCAAAGACTTTCCTGT	0.473000														38			27		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31284752	31284752	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31284752G>A	uc002ebr.3	+	7	869	c.771G>A	c.(769-771)acG>acA	p.T257T	ITGAM_uc002ebq.3_Silent_p.T257T|ITGAM_uc010cam.1_5'Flank	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	257	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTGTCATCACGGATGGAGAAA	0.498000														54			36		0	0	1	0	0
HOXC4	3221	broad.mit.edu	37	12	54448070	54448070	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54448070C>T	uc001seu.3	+	2	1044	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	HOXC4_uc001sex.3_Missense_Mutation_p.P122S	NM_014620	NP_705897	P09017	HXC4_HUMAN	Homo sapiens homeobox C4 (HOXC4), transcript variant 1, mRNA.	122						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						CCAGCCAGCCCCCGACCATCC	0.637000														25			10		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40728919	40728919	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:40728919C>T	uc001rmg.4	+	39	6029	c.5908C>T	c.(5908-5910)Cta>Tta	p.L1970L	LRRK2_uc009zjw.3_Silent_p.L808L|LRRK2_uc001rmi.3_Silent_p.L803L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1970	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CACTAGAACCCTACAGCACAG	0.517000														62			19		0	0	1	0	0
ADAL	161823	broad.mit.edu	37	15	43641199	43641199	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:43641199C>T	uc010udo.2	+	9	1221	c.647C>T	c.(646-648)tCc>tTc	p.S216F	ADAL_uc001zrh.3_Missense_Mutation_p.S243F|ADAL_uc001zri.2_Missense_Mutation_p.S128F	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN	Homo sapiens adenosine deaminase-like (ADAL), transcript variant 1, mRNA.	243					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GAGGGAGGATCCCTGGATCTG	0.488000														61			31		0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88402646	88402646	+	Missense_Mutation	SNP	C	T	T	rs146646005		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:88402646C>T	uc002ssr.3	+	6	1043	c.958C>T	c.(958-960)Cgt>Tgt	p.R320C	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_Missense_Mutation_p.R16C	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGACAAGGCTCGTTCCGAGGG	0.463000														35			21		0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39435943	39435943	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:39435943G>A	uc003gua.3	+	1	1036	c.939G>A	c.(937-939)acG>acA	p.T313T	KLB_uc011byj.2_Silent_p.T313T	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	313	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						CGGAAAACACGATGGATATAT	0.468000														65			24		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644533	169644533	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:169644533G>A	uc003fgd.3	+	5	750	c.483G>A	c.(481-483)caG>caA	p.Q161Q	SAMD7_uc003fge.3_Silent_p.Q161Q|SAMD7_uc011bpo.2_Silent_p.Q62Q	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	161										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GAAACCTTCAGGGAAACCCCA	0.562000														83			49		0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023314	6023314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:6023314C>T	uc010qzv.2	-	0	1065	c.1065G>A	c.(1063-1065)aaG>aaA	p.K355K		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K355N(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATTCCCTGCTTGATCTCCT	0.433000														53			31		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10267156	10267156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10267156G>A	uc002mng.3	-	16	1442	c.1262C>T	c.(1261-1263)cCc>cTc	p.P421L	DNMT1_uc010xlc.2_Missense_Mutation_p.P437L|DNMT1_uc002mnh.3_Missense_Mutation_p.P316L|DNMT1_uc010xld.2_Missense_Mutation_p.P421L	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	421	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGTGTCGATGGGACACAGGTG	0.473000														49			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179497087	179497087	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179497087C>T	uc021vsy.1	-	184	36055	c.35830G>A	c.(35830-35832)Gaa>Aaa	p.E11944K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5639K|TTN_uc021vta.1_Missense_Mutation_p.E5572K|TTN_uc021vtb.1_Missense_Mutation_p.E5447K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12871	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R11944*(1)		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)			ACAGCACTTTCCTTCTCTTTG	0.403000														12			9		0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45936027	45936027	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:45936027G>A	uc001jce.3	+	7	1230	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E	ALOX5_uc009xmt.3_Silent_p.E377E|ALOX5_uc010qfg.2_Silent_p.E377E|ALOX5_uc021ppr.1_Silent_p.E377E	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	377	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TGGTGTCTGAGGTTTTTGGCA	0.542000														38			17		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566682	55566682	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:55566682G>A	uc010qhq.2	-	34	5095	c.4700C>T	c.(4699-4701)tCc>tTc	p.S1567F	PCDH15_uc010qhr.2_Missense_Mutation_p.S1562F	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, mRNA.	422					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)				TCGAACAGGGGAAGCAACTTT	0.458000										HNSCC(58;0.16)				175			39		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90139096	90139096	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:90139096G>A	uc010yts.2	+	29		c.3279G>A								Parts of antibodies, mostly variable regions.																		GACCCAGTCAGGACACAGCAT	0.547000														191			46		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332927	70332927	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70332927G>A	uc001oqc.3	-	20	3385	c.3273C>T	c.(3271-3273)ttC>ttT	p.F1091F	SHANK2_uc010rqn.2_Silent_p.F567F|SHANK2_uc001opz.3_Silent_p.F562F|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	778					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding	p.F1158F(1)|p.F562F(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGCCACCCACGAAATGGTTTT	0.672000														69			29		0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139564197	139564197	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:139564197G>A	uc021zfy.1	-	9	1686	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	507						cytoplasm		p.F507F(2)		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)		GAATTATCATGAAGGCTGTGG	0.512000														122			50		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153864657	153864657	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:153864657C>T	uc003inf.2	+	0	523	c.448C>T	c.(448-450)Cct>Tct	p.P150S		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	150	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GTCTTCCCTTCCTAGGAGAGG	0.478000														81			28		0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36789956	36789956	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:36789956C>T	uc002xhr.3	-	1	156	c.56G>A	c.(55-57)cGa>cAa	p.R19Q	TGM2_uc010zvx.2_Missense_Mutation_p.R19Q|TGM2_uc010zvy.2_Intron|TGM2_uc002xhs.1_Missense_Mutation_p.R19Q|TGM2_uc002xht.3_Missense_Mutation_p.R19Q|TGM2_uc002xhu.3_Missense_Mutation_p.R19Q	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	19					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GTGGTGGTCTCGGCCATTGGT	0.622000														94			38		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70144128	70144128	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:70144128C>T	uc001deo.1	+	1	1522	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C				Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	0						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						TAAAGAGGTTCGTGCAGCACT	0.403000														10			8		0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076389	87076389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:87076389C>T	uc011lfy.2	-	1	657	c.657G>A	c.(655-657)atG>atA	p.M219I		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	219	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			AGAGTGTCTTCATTGTCCAGT	0.438000														77			7		0	0	1	0	0
TCL1B	9623	broad.mit.edu	37	14	96157628	96157628	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:96157628C>T	uc001yfa.3	+	2	408	c.357C>T	c.(355-357)gtC>gtT	p.V119V	TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript|TCL1B_uc001yez.3_Silent_p.V119V	NM_004918	NP_004909	O95988	TCL1B_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1B (TCL1B), transcript variant 1, mRNA.	119										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		AGCAGCTGGTCCTAACATATC	0.562000														23			8		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071222	70071222	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:70071222C>T	uc010kak.3	+	27	4333	c.4057C>T	c.(4057-4059)Ccc>Tcc	p.P1353S	BAI3_uc003pev.4_Missense_Mutation_p.P1353S|BAI3_uc011dxx.2_Missense_Mutation_p.P559S	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1353					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAATATGAATCCCCCTGTAAT	0.423000														109			7		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18776967	18776967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:18776967G>A	uc003zne.4	+	18	2892	c.2740G>A	c.(2740-2742)Gac>Aac	p.D914N		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	914	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTGGGAGAAGGACGGCCAGCA	0.677000														47			6		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117803253	117803253	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117803253C>T	uc004bjj.4	-	18	5771	c.5359G>A	c.(5359-5361)Gaa>Aaa	p.E1787K	TNC_uc010mvf.3_Missense_Mutation_p.E1514K|TNC_uc022bmj.1_Missense_Mutation_p.E1424K	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1787	Fibronectin type-III 13.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGTTCACTTTCCTCAAAGCCC	0.498000														80			29		0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26966471	26966471	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:26966471G>A	uc002hbu.3	-	10	1194	c.1091C>T	c.(1090-1092)aCc>aTc	p.T364I	KIAA0100_uc002hbv.3_Missense_Mutation_p.T364I	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	364						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GAGGTCAATGGTGGTCACCTG	0.453000														22			25		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587930	55587930	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55587930C>T	uc010rin.2	+	0	825	c.825C>T	c.(823-825)gcC>gcT	p.A275A		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCAAAGTGGCCTCTGTGTTTT	0.498000														105			15		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45914634	45914634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:45914634C>T	uc010gzz.3	+	1	299	c.152C>T	c.(151-153)tCg>tTg	p.S51L	FBLN1_uc003bgg.1_Missense_Mutation_p.S51L|FBLN1_uc003bgh.3_Missense_Mutation_p.S51L|FBLN1_uc003bgi.1_Missense_Mutation_p.S51L|FBLN1_uc003bgj.1_Missense_Mutation_p.S51L	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	51	Anaphylatoxin-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	p.S51W(4)|p.C50Y(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AAGGACTGCTCGCTGCCATAT	0.552000														10			5		0	0	1	0	0
NKG7	4818	broad.mit.edu	37	19	51875290	51875290	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51875290C>T	uc002pwj.3	-	2	514	c.343G>A	c.(343-345)Gag>Aag	p.E115K	NKG7_uc002pwk.3_Missense_Mutation_p.E80K	NM_005601	NP_005592	Q16617	NKG7_HUMAN	Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA.	115						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCCACCGCTCGCTGGTGTAC	0.607000														67			29		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43858479	43858479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:43858479G>A	uc010skx.2	-	9	1424	c.1424C>T	c.(1423-1425)cCt>cTt	p.P475L		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	475	Disintegrin.					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)		AAGTTCTGAAGGCAGATTATA	0.383000														70			11		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187509917	187509917	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:187509917G>A	uc003izf.3	-	26	13784	c.13596C>T	c.(13594-13596)gtC>gtT	p.V4532V	FAT1_uc010isn.3_Silent_p.V179V	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	4532					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCATGCTCTCGACAGCGGGCG	0.557000										HNSCC(5;0.00058)				51			13		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372323	175372323	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:175372323C>T	uc001gkp.1	-	1	1010	c.929G>A	c.(928-930)gGg>gAg	p.G310E	TNR_uc009wwu.1_Missense_Mutation_p.G310E|TNR_uc010pmz.1_Missense_Mutation_p.G310E	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	310	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E309K(1)|p.G310G(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GACGCAGAGCCCCTCCTCACA	0.612000														58			15		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313046	54313046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54313046C>T	uc002qcj.4	-	2	2087	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.E623K|NLRP12_uc002qci.4_Missense_Mutation_p.E623K|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.E623K	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	623					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ATAAACTCCTCCTCCTGGATC	0.567000														65			23		0	0	1	0	0
SP6	80320	broad.mit.edu	37	17	45925633	45925633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:45925633G>A	uc002imh.1	-	1	441	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F	SP6_uc002img.1_Missense_Mutation_p.L55F|SP6_uc021tzc.1_Missense_Mutation_p.L55F	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Homo sapiens Sp6 transcription factor (SP6), mRNA.	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CCCAGCGGGAGGCTCTGCAGC	0.692000														16			10		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916027	131916027	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:131916027C>T	uc003ytd.4	-	6	2158	c.1902G>A	c.(1900-1902)ggG>ggA	p.G634G	ADCY8_uc010mds.3_Silent_p.G634G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	634					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.V633V(1)|p.V633M(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CATTCTGTTTCCCCACGATAT	0.498000										HNSCC(32;0.087)				63			20		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68650889	68650889	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:68650889C>T	uc010bib.3	-	5	594	c.507G>A	c.(505-507)ctG>ctA	p.L169L	ITGA11_uc002ari.3_Silent_p.L169L	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	169	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TGGAGCCATCCAGGACAATGA	0.527000														31			24		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42796998	42796998	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:42796998C>T	uc002otf.1	+	13	3496	c.3456C>T	c.(3454-3456)ttC>ttT	p.F1152F		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1152	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTAGCCCTTTCCCCAGCGCCA	0.632000			"""Mis, F, S"""		oligodendroglioma									112			15		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1058699	1058699	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:1058699C>T	uc002lqw.4	+	37	5463	c.5232C>T	c.(5230-5232)ttC>ttT	p.F1744F	ABCA7_uc002lqy.3_Silent_p.F197F|ABCA7_uc010dsc.3_Non-coding_Transcript	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1744					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GGCCCCTCTTCCTTCTCTTCA	0.572000														115			42		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210574720	210574720	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:210574720C>T	uc002vde.1	+	11	5063	c.4815C>T	c.(4813-4815)acC>acT	p.T1605T	MAP2_uc002vdd.1_Silent_p.T306T|MAP2_uc002vdf.1_Silent_p.T249T|MAP2_uc002vdg.1_Silent_p.T249T|MAP2_uc002vdh.1_Silent_p.T306T|MAP2_uc002vdi.1_Silent_p.T1601T	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1605					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTCCTGGCACCCCACCAAGTT	0.562000														98			46		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228515	21228515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21228515G>A	uc002red.3	-	25	11353	c.11225C>T	c.(11224-11226)tCa>tTa	p.S3742L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3742					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GACAAGAACTGAATTTAGATC	0.383000														157			49		0	0	1	0	0
HIST1H3F	8968	broad.mit.edu	37	6	26250518	26250518	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:26250518C>T	uc003nhg.1	-	0	318	c.316G>A	c.(316-318)Gag>Aag	p.E106K	HIST1H2BH_uc003nhh.3_5'Flank	NM_021018	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3f (HIST1H3F), mRNA.	106					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			lung(6)|urinary_tract(1)	7						TTGGTGTCCTCAAAGAGCCCC	0.602000											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		147			38		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197036305	197036305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:197036305C>T	uc001gtt.1	-	0	93	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	17					blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GCATAGAGTTCTCCTGAGATT	0.284000														38			14		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7334709	7334709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7334709G>A	uc001mfe.3	+	2	818	c.581G>A	c.(580-582)gGa>gAa	p.G194E	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	194						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CAGTTGACTGGAATTGGTAGA	0.413000														93			9		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50530608	50530608	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50530608G>A	uc021pqb.1	+	0	18	c.18G>A	c.(16-18)aaG>aaA	p.K6K	C10orf71_uc021pqa.1_Silent_p.K5K|C10orf71_uc021pqc.1_Silent_p.K6K	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	6										endometrium(1)	1						AAGGAAATAAGAAGTGCACAG	0.537000														13			4		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552399	1552399	+	Missense_Mutation	SNP	G	A	A	rs142083473	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:1552399G>A	uc010gai.3	-	2	817	c.718C>T	c.(718-720)Cgt>Tgt	p.R240C	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	240	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.R240C(2)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGTCCCACGAAGAGGGTCC	0.627000														76			31		0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11944573	11944573	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:11944573C>T	uc010yjm.2	+	16	2238	c.2185C>T	c.(2185-2187)Ccc>Tcc	p.P729S	LPIN1_uc010yjn.2_Missense_Mutation_p.P644S|LPIN1_uc002rbt.3_Missense_Mutation_p.P644S|LPIN1_uc010yjo.2_Missense_Mutation_p.P145S	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	644	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GAAGAATGGCCCCAACGACGT	0.468000														66			21		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121016536	121016536	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:121016536G>A	uc010rzo.2	+	10	3816	c.3816G>A	c.(3814-3816)aaG>aaA	p.K1272K		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1272	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCTGGGTGAAGAGGGACACCT	0.592000														103			25		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24835206	24835206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:24835206G>A	uc001iru.4	+	20	6188	c.5785G>A	c.(5785-5787)Gga>Aga	p.G1929R	KIAA1217_uc001irs.3_Missense_Mutation_p.G1250R|KIAA1217_uc001irt.4_Missense_Mutation_p.G1295R|KIAA1217_uc010qcy.2_Missense_Mutation_p.G1360R|KIAA1217_uc010qcz.2_Missense_Mutation_p.G1335R|KIAA1217_uc001irw.3_3'UTR|KIAA1217_uc001irz.3_3'UTR|KIAA1217_uc001irx.3_3'UTR|KIAA1217_uc001iry.3_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1929					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGCACAGAATGGAAGTTCAAG	0.483000														61			26		0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76332544	76332544	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:76332544C>T	uc003ket.3	+	4	1063	c.681_splice	c.e4+1	p.S227_splice	AGGF1_uc003keu.1_Splice_Site	NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	227					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)		TATTATGATTCTGTAAGTATC	0.438000														79			6		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927322	43927322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:43927322C>T	uc010yny.2	+	7	1308	c.1225C>T	c.(1225-1227)Cct>Tct	p.P409S	PLEKHH2_uc002rte.3_Missense_Mutation_p.P409S|PLEKHH2_uc002rtf.3_Missense_Mutation_p.P408S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	409						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CACCCCAAGCCCTATTTTGAC	0.423000														94			35		0	0	1	0	0
LOC344967	344967	broad.mit.edu	37	4	40045328	40045328	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:40045328C>T	uc011byr.1	-	2	822	c.328G>A	c.(328-330)Gag>Aag	p.E110K						Homo sapiens acyl-CoA thioesterase 7 pseudogene (LOC344967), non-coding RNA.																		TGGCCCTCCTCCTCCTGCTCC	0.597000														25			15		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303883	151303883	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:151303883G>A	uc022cgz.1	-	0	210	c.210C>T	c.(208-210)acC>acT	p.T70T	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.T70T|MAGEA10_uc004ffm.2_Silent_p.T70T|MAGEA10_uc004ffl.3_Silent_p.T70T	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	70										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCTCTGGGGTGCTTGGTA	0.532000														40			54		0	0	1	0	0
STC1	6781	broad.mit.edu	37	8	23702404	23702404	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:23702404C>T	uc003xdw.1	-	3	907	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	208					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GAAGTCAGCTCGTGGGTGTGT	0.557000														77			17		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15688901	15688901	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:15688901C>T	uc001ioc.1	-	11	1151	c.1151G>A	c.(1150-1152)gGg>gAg	p.G384E	ITGA8_uc010qcb.1_Missense_Mutation_p.G369E	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	384					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.G384L(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ACCGAATCTCCCAAACGTCTC	0.483000														51			15		0	0	1	0	0
GOLGA8E	390535	broad.mit.edu	37	15	23444016	23444016	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:23444016G>A	uc001yvu.3	+	13	1686	c.671G>A	c.(670-672)gGa>gAa	p.G224E	JA429730_uc021sfs.1_5'Flank					Homo sapiens golgin A8 family, member E (GOLGA8E), non-coding RNA.											endometrium(1)|kidney(1)|lung(3)|skin(1)	6		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;5.21e-07)|Epithelial(43;5.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.000614)		GGACACGGAGGAGAACATCTG	0.617000														65			10		0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23549177	23549177	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23549177G>A	uc001wit.4	-	5	1869	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V	ACIN1_uc001wis.4_Missense_Mutation_p.A196V|ACIN1_uc010akg.3_Missense_Mutation_p.A514V|ACIN1_uc010tnj.2_Missense_Mutation_p.A474V	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	514					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ATCCTTCTGGGCTGAGTAGTC	0.493000														94			61		0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55280709	55280709	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:55280709C>T	uc001cyb.4	+	7	1101	c.1047C>T	c.(1045-1047)agC>agT	p.S349S	C1orf177_uc001cya.4_Silent_p.S349S	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	349										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TTATGGGAAGCTGGGTAAGTG	0.542000														105			42		0	0	1	0	0
INTS4L1	285905	broad.mit.edu	37	7	64643370	64643370	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:64643370C>T	uc003ttw.3	+	5		c.777C>T								Homo sapiens integrator complex subunit 4-like 1 (INTS4L1), non-coding RNA.																		CAGAGATATTCGAGAGGCTCT	0.398000														45			10		0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40916996	40916996	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40916996C>T	uc010bbs.1	+	10	4773	c.4612C>T	c.(4612-4614)Caa>Taa	p.Q1538*	CASC5_uc010ucq.1_Nonsense_Mutation_p.Q1362*|CASC5_uc001zme.3_Nonsense_Mutation_p.Q1512*|CASC5_uc010bbt.1_Nonsense_Mutation_p.Q1512*	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	1538					CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GGAAAATATTCAAACAACTAA	0.383000														35			19		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451765	55451765	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55451765C>T	uc002qih.4	-	3	498	c.422G>A	c.(421-423)gGa>gAa	p.G141E	NLRP7_uc010esk.3_Missense_Mutation_p.G141E|NLRP7_uc002qig.4_Missense_Mutation_p.G141E|NLRP7_uc002qii.4_Missense_Mutation_p.G141E|NLRP7_uc010esl.3_Missense_Mutation_p.G169E	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	141							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTCAATGTCTCCTTGCCAAAA	0.463000														453			178		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6759655	6759655	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:6759655G>A	uc002wmu.1	+	2	1895	c.1110G>A	c.(1108-1110)tcG>tcA	p.S370S		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	370					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	GTGCTATCTCGATGCTGTACC	0.428000														50			15		0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110714266	110714266	+	Silent	SNP	C	T	T	rs148812598	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:110714266C>T	uc003puc.3	-	4	826	c.822G>A	c.(820-822)ccG>ccA	p.P274P	METTL24_uc003pub.2_Intron|DDO_uc003pud.3_Silent_p.P215P	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	246					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TTTCTGCATCCGGGGACAGAT	0.522000														90			52		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33586667	33586667	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33586667G>A	uc002xbi.2	+	34	4582	c.4265G>A	c.(4264-4266)aGc>aAc	p.S1422N		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1380						membrane|myosin filament	ATP binding|actin binding|motor activity	p.S1422R(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAGTGGAGGAGCAAGTACGAA	0.627000														46			12		0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112144721	112144721	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:112144721C>T	uc004bed.2	-	23	2501	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	PTPN3_uc004beb.2_Missense_Mutation_p.E666K|PTPN3_uc004bec.2_Missense_Mutation_p.E621K|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.E752K|PTPN3_uc011lwh.1_Missense_Mutation_p.E643K|PTPN3_uc011lwd.1_Missense_Mutation_p.E265K|PTPN3_uc011lwe.1_Missense_Mutation_p.E510K|PTPN3_uc011lwf.1_Missense_Mutation_p.E465K	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	797	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTGTGTTCTTCCCCGGTCTGT	0.577000														23			30		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133475156	133475156	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:133475156C>T	uc003epu.2	+	10	2394	c.666C>T	c.(664-666)gcC>gcT	p.A222A	TF_uc011blt.2_Silent_p.A95A|TF_uc003epw.2_Intron|TF_uc003epv.2_Silent_p.A222A	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	222	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GGGATGTGGCCTTTGTCAAGC	0.517000														25			3		0	0	1	0	0
NCF1C	654817	broad.mit.edu	37	7	74582409	74582410	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:74582409_74582410GG>AA	uc003ubv.3	-	3	394_395	c.255_256CC>TT	c.(253-258)tcccgc>tcTTgc	p.R86C	NCF1C_uc011kfn.2_Missense_Mutation_p.R86C|NCF1C_uc011kfo.2_Missense_Mutation_p.R84C					Homo sapiens neutrophil cytosolic factor 1C pseudogene (NCF1C), non-coding RNA.																		TGGGGACAGCGGGAGATCTTGG	0.604000														52			6		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39645728	39645728	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:39645728C>T	uc003xnj.3	-	8	760	c.685G>A	c.(685-687)Gag>Aag	p.E229K	ADAM2_uc003xnk.3_Missense_Mutation_p.E210K|ADAM2_uc011lck.2_Missense_Mutation_p.E229K|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	229	Peptidase M12B.				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)		ATCCAAAGCTCCAATGAAGAC	0.274000														86			17		0	0	1	0	0
PHB	5245	broad.mit.edu	37	17	47482519	47482519	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:47482519G>A	uc002iox.1	-	6	727	c.654C>T	c.(652-654)tcC>tcT	p.S218S		NM_002634	NP_002625	P35232	PHB_HUMAN	Homo sapiens prohibitin (PHB), mRNA.	218					DNA replication|cellular response to interleukin-6|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			CAGCTGCCTTGGAGTCGCCCT	0.567000														29			4		0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282476	59282476	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59282476C>T	uc010rkv.2	+	0	91	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ATTTACCTTCCTGTTTTTGGT	0.433000														204			11		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88472476	88472476	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:88472476C>T	uc002bme.2	-	16	2385	c.2079G>A	c.(2077-2079)gtG>gtA	p.V693V	NTRK3_uc002bmh.2_Silent_p.V685V|NTRK3_uc002bmf.2_Silent_p.V693V|NTRK3_uc021sua.1_Silent_p.V685V|NTRK3_uc010upl.1_Silent_p.V595V|NTRK3_uc010bnh.1_Silent_p.V685V	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	693	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCCCAATCTTCACTAGCAGAT	0.562000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				160			12		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118147626	118147626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:118147626C>T	uc003yoh.3	+	0	290	c.60C>T	c.(58-60)ttC>ttT	p.F20F	SLC30A8_uc010mcz.3_Intron|SLC30A8_uc003yog.3_5'UTR|SLC30A8_uc011lia.2_5'UTR|SLC30A8_uc022bab.1_5'UTR	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	20					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGTATGCTTTCACACTAGAAA	0.403000														152			40		0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11343898	11343898	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:11343898G>A	uc002mqs.4	-	21	2740	c.2699C>T	c.(2698-2700)tCc>tTc	p.S900F	DOCK6_uc010xlq.2_Missense_Mutation_p.S204F	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	900					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CAGGATGCGGGAAACCTCGTC	0.622000														21			10		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143772241	143772241	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:143772241C>T	uc011ktx.2	+	0	929	c.929C>T	c.(928-930)tCa>tTa	p.S310L		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					AAGAGAACTTCATGAAAGCCT	0.398000														176			63		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332847	70332847	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:70332847C>T	uc001oqc.3	-	20	3465	c.3353G>A	c.(3352-3354)aGc>aAc	p.S1118N	SHANK2_uc010rqn.2_Missense_Mutation_p.S594N|SHANK2_uc001opz.3_Missense_Mutation_p.S589N|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	805					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding	p.S1118L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGCTGGGCTGCTCTCGGGCCC	0.692000														63			26		0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55655605	55655605	+	Missense_Mutation	SNP	G	A	A	rs146327492		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55655605G>A	uc010rip.2	+	3	697	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	TRIM51_uc010riq.2_Missense_Mutation_p.R59Q	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	202						intracellular	zinc ion binding										GAAAGGCTGCGAAAGGAGGGC	0.428000														80			20		0	0	1	0	0
MIR371B	100616185	broad.mit.edu	37	19	54290995	54290995	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54290995C>T	uc021vba.1	-	1		c.1_splice	c.e1-1		MIR371A_uc010yec.2_Non-coding_Transcript|MIR373_uc010yee.1_5'Flank					Homo sapiens microRNA 371b (MIR371B), microRNA.																		TTGAGTGTTACCGCTTGAGAA	0.572000														27			10		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152084126	152084126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152084126C>T	uc009wne.1	-	2	1839	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	TCHH_uc001ezp.2_Missense_Mutation_p.E523K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	523	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCCTCCTCCTGGCGCTTC	0.652000														196			44		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356180	10356180	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:10356180C>T	uc002gmn.3	-	24	3292	c.3181G>A	c.(3181-3183)Ggt>Agt	p.G1061S	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1061					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						TTTAGGTCACCCTCCAGTTTT	0.343000														96			69		0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30867933	30867933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:30867933C>T	uc003ahy.3	-	0	102	c.13G>A	c.(13-15)Gtt>Att	p.V5I	SEC14L3_uc003ahz.3_5'UTR|SEC14L3_uc003aia.3_5'UTR|SEC14L3_uc003aib.3_5'UTR	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	5						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AGGTCTCCAACTCGGCCGCTC	0.632000														82			39		0	0	1	0	0
RBPMS2	348093	broad.mit.edu	37	15	65042566	65042566	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65042566G>A	uc002anq.3	-	2	432	c.180C>T	c.(178-180)tcC>tcT	p.S60S		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	Homo sapiens RNA binding protein with multiple splicing 2 (RBPMS2), mRNA.	60	RRM.						nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						GCTTGATCAGGGACCCTTCAT	0.572000														241			84		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62070963	62070963	+	Silent	SNP	G	A	A	rs118192212		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62070963G>A	uc002yey.1	-	5	1092	c.915C>T	c.(913-915)ttC>ttT	p.F305F	KCNQ2_uc002yez.1_Silent_p.F305F|KCNQ2_uc002yfa.1_Silent_p.F305F|KCNQ2_uc002yfb.1_Silent_p.F305F|KCNQ2_uc011aax.1_Silent_p.F305F|KCNQ2_uc002yfc.1_Silent_p.F305F	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	305					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CAGGCAGCGCGAAGAAGGAGA	0.632000														96			26		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57535160	57535160	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57535160C>T	uc001snd.3	+	2	660	c.194C>T	c.(193-195)cCa>cTa	p.P65L	LRP1_uc010sre.2_Missense_Mutation_p.P65L|LRP1_uc001snb.3_Missense_Mutation_p.P65L|LRP1_uc001snc.1_Missense_Mutation_p.P65L	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	65	LDL-receptor class A 1.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCTCAGGTCCACAGAGTAAG	0.577000														38			14		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074935	106074935	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:106074935G>A	uc001kyf.3	-	2	1328	c.875C>T	c.(874-876)tCc>tTc	p.S292F	ITPRIP_uc001kye.3_Missense_Mutation_p.S292F|ITPRIP_uc001kyg.3_Missense_Mutation_p.S292F|ITPRIP_uc021pxv.1_Missense_Mutation_p.S292F	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	292						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CAGGTACAGGGAATCTGTGGC	0.597000														48			17		0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444301	15444301	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:15444301T>A	uc003gno.3	+	2	1028	c.769T>A	c.(769-771)Ttc>Atc	p.F257I	C1QTNF7_uc011bxb.2_Missense_Mutation_p.F250I|C1QTNF7_uc003gnp.3_Missense_Mutation_p.F250I	NM_001135170	NP_114117	Q9BXJ2	C1QT7_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA.	250	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GCTGGAGATTTTCTTCACAGA	0.493000														94			54		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2786979	2786979	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:2786979G>A	uc009zdu.1	+	42	5494	c.5181G>A	c.(5179-5181)ctG>ctA	p.L1727L	CACNA1C_uc001qkc.2_Silent_p.L1698L|CACNA1C_uc001qjz.2_Silent_p.L1679L|CACNA1C_uc001qkd.2_Silent_p.L1698L|CACNA1C_uc001qke.2_Silent_p.L1668L|CACNA1C_uc001qkf.2_Silent_p.L1687L|CACNA1C_uc009zdw.1_Silent_p.L1720L|CACNA1C_uc001qkg.2_Silent_p.L1685L|CACNA1C_uc001qkh.2_Silent_p.L1687L|CACNA1C_uc001qkl.2_Silent_p.L1727L|CACNA1C_uc001qkj.2_Silent_p.L1679L|CACNA1C_uc001qkk.2_Silent_p.L1679L|CACNA1C_uc001qkn.2_Silent_p.L1679L|CACNA1C_uc001qkm.2_Silent_p.L1668L|CACNA1C_uc001qko.2_Silent_p.L1699L|CACNA1C_uc001qkp.2_Silent_p.L1679L|CACNA1C_uc001qkq.2_Silent_p.L1707L|CACNA1C_uc001qku.2_Silent_p.L1679L|CACNA1C_uc001qkr.2_Silent_p.L1696L|CACNA1C_uc001qks.2_Silent_p.L1679L|CACNA1C_uc001qkt.2_Silent_p.L1698L|CACNA1C_uc009zdv.1_Silent_p.L1676L|CACNA1C_uc001qkb.2_Silent_p.L1679L|CACNA1C_uc001qki.1_Silent_p.L1415L|CACNA1C_uc010sea.1_Silent_p.L370L|AK093746_uc001qkx.1_Non-coding_Transcript|CACNA1C_uc001qky.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1727					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGGAGGAGCTGGACAAGGCCA	0.577000														45			16		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1077677	1077677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:1077677C>T	uc001lsx.1	+	2	454	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	143	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGCGCCGGCCTCACCCTCAT	0.672000														18			8		0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18764911	18764911	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:18764911G>A	uc001mpd.3	-	4	788	c.357C>T	c.(355-357)ctC>ctT	p.L119L	PTPN5_uc001mpb.3_Intron|PTPN5_uc001mpc.3_Silent_p.L119L|PTPN5_uc010rdj.2_Intron|PTPN5_uc001mpf.3_Silent_p.L95L|PTPN5_uc001mpe.3_Intron|PTPN5_uc010rdk.2_Silent_p.L64L	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	119						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						AAGAGGAGACGAGGTTTGTGG	0.592000														46			74		0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68812269	68812269	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:68812269C>T	uc003hdr.1	-	1	153	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.R11Q	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	11					cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.R11Q(2)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ATTTCTGCTTCGGGTGCCAAA	0.488000														45			21		0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027138	92027138	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:92027138C>T	uc003ulw.2	+	18	2873	c.2497C>T	c.(2497-2499)Cct>Tct	p.P833S	ANKIB1_uc010lew.1_Missense_Mutation_p.P102S	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	833							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGACTACACCCCTGCCAGTCG	0.542000														186			67		0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171520744	171520744	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:171520744G>C	uc003mbo.1	-	8	1526	c.1226C>G	c.(1225-1227)cCc>cGc	p.P409R		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	409							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTCCGCAGGGGCACAGGCAC	0.627000														56			10		0	0	1	0	0
ZBTB33	10009	broad.mit.edu	37	X	119388433	119388433	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:119388433C>T	uc022cdm.1	+	0	1163	c.1163C>T	c.(1162-1164)tCc>tTc	p.S388F	ZBTB33_uc010nqm.1_Missense_Mutation_p.S388F|ZBTB33_uc004esn.1_Missense_Mutation_p.S388F	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	Homo sapiens zinc finger and BTB domain containing 33 (ZBTB33), transcript variant 2, mRNA.	388					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						CTTTCCAATTCCTTAAAAATT	0.363000														42			47		0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47628107	47628107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:47628107C>T	uc002eev.4	+	11	1238	c.1186C>T	c.(1186-1188)Ctt>Ttt	p.L396F	PHKB_uc002eeu.4_Missense_Mutation_p.L389F	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	396					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GACTCCAGTACTTCATCATAC	0.313000														66			7		0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40091482	40091482	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:40091482C>T	uc002hyj.4	+	1	216	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	TTC25_uc021txp.1_Nonsense_Mutation_p.Q43*	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	Homo sapiens tetratricopeptide repeat domain 25 (TTC25), mRNA.	43				Q -> K (in Ref. 3; AAH25390).		cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TCTTTACCTTCAGGATGGAGA	0.537000														24			11		0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109538218	109538218	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:109538218G>A	uc001dwl.3	-	7	2075	c.1699C>T	c.(1699-1701)Cct>Tct	p.P567S	WDR47_uc001dwi.3_Missense_Mutation_p.P560S|WDR47_uc001dwj.3_Missense_Mutation_p.P559S|WDR47_uc001dwk.2_Missense_Mutation_p.P531S|WDR47_uc010ovf.2_Missense_Mutation_p.P486S	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	559										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTTCCACAAGGTGATTCCTCC	0.363000														225			74		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180003	124180003	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124180003G>A	uc010sag.2	-	0	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	220					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)		TGTAGAGGATGAAGGCATAGG	0.507000														32			16		0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114841688	114841688	+	Missense_Mutation	SNP	C	T	T	rs145365553		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:114841688C>T	uc001tvo.3	-	1	511	c.16G>A	c.(16-18)Gag>Aag	p.E6K	TBX5_uc001tvp.3_Missense_Mutation_p.E6K|TBX5_uc001tvq.3_Intron|TBX5_uc010syv.2_Missense_Mutation_p.E6K	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	6					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.E6*(3)|p.E6K(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCAAAGCCCTCGTCTGCGTCG	0.677000														37			9		0	0	1	0	0
LPCAT1	79888	broad.mit.edu	37	5	1474126	1474126	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:1474126G>A	uc003jcm.3	-	10	1242	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	375					phospholipid biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GGACTTCCAGGGAGGCGGCAA	0.532000														34			19		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249996	52249996	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:52249996C>T	uc021uyn.1	-	2	398	c.252G>A	c.(250-252)agG>agA	p.R84R	FPR1_uc002pxq.3_Silent_p.R84R|FPR1_uc021uyo.1_Silent_p.R84R	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	84					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)	CCATGGCCTTCCTGACCATGA	0.517000														85			24		0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110018223	110018223	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:110018223C>T	uc001dxp.3	+	2	516	c.150C>T	c.(148-150)ttC>ttT	p.F50F	SYPL2_uc001dxo.2_Silent_p.F50F|SYPL2_uc010ovk.2_Silent_p.F50F|SYPL2_uc001dxq.2_5'Flank	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	Homo sapiens synaptophysin-like 2 (SYPL2), mRNA.	50	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTTTCGCCTTCGGGTCCTGTG	0.547000														64			13		0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735076	55735076	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:55735076G>A	uc010rit.2	-	0	864	c.864C>T	c.(862-864)atC>atT	p.I288I		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D287Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATGCCACCATGATATCTTTGT	0.333000														54			12		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108690226	108690226	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:108690226G>A	uc003dxl.3	-	24	2588	c.2501C>T	c.(2500-2502)cCt>cTt	p.P834L	MORC1_uc011bhn.2_Missense_Mutation_p.P813L	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	834					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTGATGCTCAGGAAAAAAATA	0.408000														69			24		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17548851	17548851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:17548851C>T	uc001mnf.3	-	4	524	c.415G>A	c.(415-417)Gga>Aga	p.G139R	USH1C_uc001mne.3_Missense_Mutation_p.G139R|USH1C_uc009yhb.3_Missense_Mutation_p.G139R|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.G103R	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	139	PDZ 1.				G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ATGGAATATCCATTGATCCGG	0.547000														67			22		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140438247	140438247	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140438247G>A	uc010ncj.1	-	4	631	c.294C>T	c.(292-294)acC>acT	p.T98T	PNPLA7_uc004cnf.2_Silent_p.T73T	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	73					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCTCCACAAGGGTGTTGGGGA	0.602000														44			25		0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2026061	2026061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:2026061C>T	uc002cnu.1	+	11	1236	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Silent_p.I264I|TBL3_uc010bsc.1_Silent_p.I264I|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	378					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TCTCAGATATCGTCCTGGCCC	0.642000														116			50		0	0	1	0	0
CARNS1	57571	broad.mit.edu	37	11	67191785	67191785	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67191785C>T	uc001olc.4	+	7	3794	c.2614C>T	c.(2614-2616)Cgt>Tgt	p.R872C	CARNS1_uc010rpr.2_Missense_Mutation_p.R856C|CARNS1_uc009yrp.3_Missense_Mutation_p.R733C|CARNS1_uc021qmh.1_Missense_Mutation_p.R291C	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	Homo sapiens carnosine synthase 1 (CARNS1), transcript variant 2, mRNA.	733					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CCCACGTGCTCGTGGCCATCT	0.657000														22			3		0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33454988	33454988	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:33454988G>A	uc003xjp.3	-	1	379	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	DUSP26_uc003xjq.3_Missense_Mutation_p.R16C	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA.	16						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.A15T(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CGGGAGAAGCGGGCCATAAAA	0.542000														39			7		0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2191098	2191098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:2191098G>A	uc001lvq.3	-	2	206	c.187C>T	c.(187-189)Ccg>Tcg	p.P63S	TH_uc001lvp.3_Missense_Mutation_p.P59S|TH_uc001lvr.3_Missense_Mutation_p.P32S|TH_uc010qxj.2_Missense_Mutation_p.P36S|TH_uc001lvs.3_Missense_Mutation_p.P32S|TH_uc001lvt.3_Missense_Mutation_p.P36S|TH_uc009ydh.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	63					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	ATGAACCGCGGGGACTGTGGG	0.716000														12			4		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5221023	5221023	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:5221023G>A	uc002mbv.3	-	19	3677	c.3443C>T	c.(3442-3444)cCc>cTc	p.P1148L	PTPRS_uc002mbu.1_Missense_Mutation_p.P717L|PTPRS_uc010xin.2_Missense_Mutation_p.P717L|PTPRS_uc002mbw.3_Missense_Mutation_p.P1126L|PTPRS_uc002mbx.3_Missense_Mutation_p.P721L|PTPRS_uc002mby.3_Missense_Mutation_p.P717L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1148					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GACAGGCACGGGGCTCTGGCC	0.622000														99			38		0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	29980386	29980386	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:29980386C>T	uc011kaa.2	-	4	760	c.711G>A	c.(709-711)gaG>gaA	p.E237E	SCRN1_uc011jzy.2_Silent_p.E149E|SCRN1_uc003tak.3_Silent_p.E217E|SCRN1_uc011jzz.2_Silent_p.E217E|SCRN1_uc011jzw.2_Intron|SCRN1_uc010kvp.3_Silent_p.E217E|SCRN1_uc011jzx.2_Silent_p.E40E	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	217					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TGAACTCGCCCTCTCCCGTCC	0.493000														156			56		0	0	1	0	0
LMF1	64788	broad.mit.edu	37	16	921174	921174	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:921174G>A	uc021tae.1	-	6	1069	c.1065C>T	c.(1063-1065)ccC>ccT	p.P355P	LMF1_uc010brg.2_5'Flank|LMF1_uc010uuu.2_Silent_p.P138P|LMF1_uc021tad.1_Silent_p.P186P|LMF1_uc010bri.2_Silent_p.P118P|LMF1_uc002ckk.2_Silent_p.P138P	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA.	355						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				ATCTGGGCTCGGGCCGGGCCC	0.667000														4			3		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79418033	79418033	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:79418033C>T	uc003hlb.2	+	59	9473	c.9033C>T	c.(9031-9033)ggC>ggT	p.G3011G	FRAS1_uc003hlc.1_Silent_p.G13G	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3006					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTACCTCGGCCTTCCTCTTG	0.453000														128			37		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61255990	61255990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61255990C>T	uc010xep.2	+	1	257	c.89C>T	c.(88-90)tCc>tTc	p.S30F	SERPINB13_uc002ljc.3_Missense_Mutation_p.S30F|SERPINB13_uc002ljd.3_5'UTR|SERPINB13_uc010xeq.2_5'UTR|SERPINB13_uc010xer.2_5'UTR	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	30					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ATCTTCTTTTCCCCTGTGGGC	0.532000														56			15		0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089547	57089547	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57089547C>T	uc002qnl.4	+	5	2426	c.1750C>T	c.(1750-1752)Cag>Tag	p.Q584*	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	584				Q -> P (in Ref. 1; AAS64219).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGTTCAACATCAGAGACTCCA	0.453000														104			34		0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213625	3213625	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:3213625G>A	uc002fvi.2	+	0	87	c.21G>A	c.(19-21)ggG>ggA	p.G7G						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		GGAACTCAGGGAATGATTCAG	0.517000														41			26		0	0	1	0	0
DPYSL3	1809	broad.mit.edu	37	5	146785234	146785234	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:146785234G>A	uc003loo.3	-	7	1290	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	DPYSL3_uc003lon.1_Silent_p.L250L	NM_001197294	NP_001184223	Q14195	DPYL3_HUMAN	Homo sapiens dihydropyrimidinase-like 3 (DPYSL3), transcript variant 1, mRNA.	250					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	p.S363T(1)|p.V364A(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGACGTAGAGAGGGCAAT	0.498000														224			102		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7175787	7175787	+	Missense_Mutation	SNP	G	A	A	rs142773314		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7175787G>A	uc001qsj.3	+	13	1942	c.1223G>A	c.(1222-1224)aGc>aAc	p.S408N	C1S_uc001qsk.3_Missense_Mutation_p.S408N|C1S_uc001qsl.3_Missense_Mutation_p.S408N|C1S_uc009zfr.3_Missense_Mutation_p.S241N|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	408	Sushi 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGTAACGGGAGCTGGGTGAAT	0.582000														27			15		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103900460	103900460	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:103900460C>T	uc001kum.3	+	4	2234	c.2195C>T	c.(2194-2196)tCt>tTt	p.S732F	PPRC1_uc001kun.3_Missense_Mutation_p.S612F|PPRC1_uc010qqj.2_Missense_Mutation_p.S732F|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTTGTGGATTCTCTGAAAATT	0.547000														105			48		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542887	14542887	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:14542887C>T	uc010dln.3	-	0	713	c.259G>A	c.(259-261)Gac>Aac	p.D87N	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	87										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGGAGTTGTCATGGTCTCCA	0.592000														320			72		0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64408417	64408417	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:64408417T>C	uc003pep.1	+	6	2929	c.2904T>C	c.(2902-2904)tcT>tcC	p.S968S	PHF3_uc010kah.1_Silent_p.S782S|PHF3_uc003pen.2_Silent_p.S880S|PHF3_uc011dxs.1_Silent_p.S237S	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	968	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.R971fs*6(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGCTTTTCTCTTTTTTTCGGG	0.303000														61			34		0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671187	31671187	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:31671187C>T	uc010zue.2	+	2	199	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	62						cytoplasm|extracellular region	lipid binding										TGGTGATATTCCCTACAATGA	0.507000														122			39		0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127950857	127950857	+	Missense_Mutation	SNP	T	C	C	rs148028531	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:127950857T>C	uc003vmp.2	-	18	2388	c.2273A>G	c.(2272-2274)gAt>gGt	p.D758G	RBM28_uc011koj.1_Missense_Mutation_p.D617G	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	758					RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCATCAACTATCAAACCATTT	0.502000														191			10		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14857646	14857646	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14857646G>A	uc003zlm.3	-	5	1549	c.733C>T	c.(733-735)Ctt>Ttt	p.L245F	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	245					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.G244D(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGATAACGAAGGCCCATCAGC	0.473000														61			32		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152060506	152060506	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152060506C>T	uc001ezo.1	-	1	179	c.114G>A	c.(112-114)caG>caA	p.Q38Q		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	38							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)			CAAACTCGCCCTGGATGAGTT	0.443000														194			50		0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899784	156899784	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:156899784C>T	uc003lwx.4	+	5	1333	c.1217C>T	c.(1216-1218)gCt>gTt	p.A406V	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Missense_Mutation_p.A387V	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	406						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						ATGCTGCATGCTTTCAAAGAC	0.547000														40			13		0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144810193	144810193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144810193G>A	uc003yzk.3	-	4	1507	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	480					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAACCCGCGCGGCCCCCGCGA	0.721000														8			5		0	0	1	0	0
SLC38A7	55238	broad.mit.edu	37	16	58713945	58713945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:58713945G>A	uc002eod.1	-	2	479	c.86C>T	c.(85-87)cCc>cTc	p.P29L	SLC38A7_uc002eoc.1_Missense_Mutation_p.P29L|SLC38A7_uc010vil.1_Intron|SLC38A7_uc002eoe.1_Missense_Mutation_p.P29L	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.	29					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						GTCCACACAGGGACTCTGCAG	0.622000														20			4		0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150835336	150835336	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150835336C>T	uc003wjg.1	+	11	1605	c.1602C>T	c.(1600-1602)tcC>tcT	p.S534S	AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Intron|AGAP3_uc003wjk.1_5'Flank	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	498	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCTCCTGCTCCGTTTCCAGCG	0.697000														14			8		0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116955341	116955341	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:116955341G>A	uc003viz.3	-	2	672	c.372C>T	c.(370-372)acC>acT	p.T124T	WNT2_uc003vja.3_Intron	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	124					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TACAGGCCCTGGTGATGGCAA	0.473000														83			17		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76464763	76464764	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76464763_76464764CC>TT	uc010dhp.2	-	54	8838_8839	c.8713_8714GG>AA	c.(8713-8715)ggc>AAc	p.G2905N	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTCATTCATGCCAAGGGACTTG	0.554000														37			12		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102964547	102964547	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:102964547G>A	uc002tbu.1	+	8	1384	c.1113G>A	c.(1111-1113)agG>agA	p.R371R	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	371					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ACAAGACTAGGAATGGTAAGT	0.378000														50			30		0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123596828	123596828	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123596828G>A	uc001pzd.1	-	8	2224	c.1824C>T	c.(1822-1824)ctC>ctT	p.L608L	ZNF202_uc001pzc.1_Silent_p.L384L|ZNF202_uc001pze.1_Silent_p.L608L|ZNF202_uc001pzf.1_Silent_p.L608L	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	608					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GATGCCTGACGAGGTGGTCCC	0.552000														81			28		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167419974	167419974	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:167419974G>A	uc010jjd.3	+	4	973	c.973G>A	c.(973-975)Ggg>Agg	p.G325R	ODZ2_uc021yhi.1_Missense_Mutation_p.G255R|ODZ2_uc003lzq.2_Missense_Mutation_p.G204R|ODZ2_uc003lzr.4_Missense_Mutation_p.G134R	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)		GACCTCCTCGGGGAGCACACC	0.552000														73			25		0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48727117	48727117	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:48727117G>A	uc003cuq.3	-	4	1095	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	IP6K2_uc003cup.3_Missense_Mutation_p.R212C	NM_016291	NP_057375	Q9UHH9	IP6K2_HUMAN	Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 1, mRNA.	212					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ACCTCGTAGCGGGAAGTCAGG	0.478000														45			23		0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748123	68748123	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:68748123C>T	uc010rqf.2	-	0	333	c.333G>A	c.(331-333)gtG>gtA	p.V111V		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	111						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCTCAGGCCCACTGTGTAGG	0.592000														53			7		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32716075	32716075	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:32716075G>A	uc004dda.1	-	8	1116	c.872C>T	c.(871-873)tCc>tTc	p.S291F	DMD_uc004dcz.2_Missense_Mutation_p.S168F|DMD_uc004dcy.1_Missense_Mutation_p.S287F|DMD_uc004ddb.1_Missense_Mutation_p.S283F|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.S283F|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	291					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)				AGGCTTAGGGGAAGAAGTTCT	0.512000														4			11		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178564848	178564848	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178564848C>T	uc003mjw.3	-	11	1975	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	625	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E624A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGGCACTGCTCCTCGCGGAAG	0.701000														5			3		0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38714175	38714175	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:38714175C>T	uc001rln.4	+	2	721	c.582C>T	c.(580-582)gtC>gtT	p.V194V		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	194					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCTGGGCTGTCTTCTGTGCAG	0.388000														287			45		0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114503831	114503831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:114503831C>T	uc004bfr.3	-	8	1042	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfs.1_Missense_Mutation_p.E367K|C9orf84_uc004bfq.3_Missense_Mutation_p.E264K|C9orf84_uc010mug.3_Missense_Mutation_p.E249K	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	303										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTAGCTGATTCTTCAGCAGTA	0.254000														55			21		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134627736	134627736	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:134627736G>A	uc021qbc.1	-	53	7409	c.7308C>T	c.(7306-7308)atC>atT	p.I2436I		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	597										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGTCTTGGGTGATGGAGACAG	0.562000														22			13		0	0	1	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249106434	249106434	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:249106434G>A	uc001iew.1	-	6	1399	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S	SH3BP5L_uc010pzp.1_Missense_Mutation_p.P176S|SH3BP5L_uc001iev.1_Missense_Mutation_p.P164S	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA.	283								p.H282Y(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGGCCCAGGGGGTGGGGAGGC	0.716000														21			6		0	0	1	0	0
G3BP2	9908	broad.mit.edu	37	4	76571592	76571592	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:76571592C>T	uc003hir.3	-	10	1271	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E	G3BP2_uc003his.3_Missense_Mutation_p.G369E|G3BP2_uc003hit.3_Missense_Mutation_p.G336E	NM_012297	NP_987101	Q9UN86	G3BP2_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 2 (G3BP2), transcript variant 2, mRNA.	369	RRM.				Ras protein signal transduction|cytoplasmic sequestering of NF-kappaB|mRNA transport|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|RNA binding|nucleotide binding|receptor signaling complex scaffold activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TGGAAGCTTTCCCCCAACACC	0.348000														176			68		0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21314251	21314251	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:21314251C>T	uc002wsf.1	+	9	1023	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C	XRN2_uc002wsg.1_Missense_Mutation_p.R234C|XRN2_uc010zsk.1_Missense_Mutation_p.R256C	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	310					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TAATGTTCTTCGTGAGGTATG	0.403000														165			66		0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89424951	89424951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:89424951G>A	uc002bnd.3	-	3	397	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F	HAPLN3_uc002bnc.3_Missense_Mutation_p.L44F|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	44	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACTCCATTAAGGAGGTCTTGG	0.622000														74			26		0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119569512	119569512	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:119569512C>T	uc003pym.1	-	5	1347	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	MAN1A1_uc010kei.2_Missense_Mutation_p.R325Q	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	302					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TGCTTTCTTTCGAAAAATCTG	0.348000														38			19		0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409322	59409322	+	Missense_Mutation	SNP	C	T	T	rs150039957	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:59409322C>T	uc003xtm.4	-	2	812	c.749G>A	c.(748-750)aGg>aAg	p.R250K		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	250					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GATGCTTTCCCTCTTTTGGAG	0.542000									Neonatal Giant Cell Hepatitis					224			31		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115986838	115986838	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:115986838G>A	uc001lbg.1	+	22	3336	c.3183G>A	c.(3181-3183)atG>atA	p.M1061I	TDRD1_uc001lbf.3_Missense_Mutation_p.M938I|TDRD1_uc001lbh.1_Missense_Mutation_p.M1048I|TDRD1_uc001lbi.1_Missense_Mutation_p.M1052I|TDRD1_uc010qsc.2_Intron|TDRD1_uc001lbj.3_Missense_Mutation_p.M770I	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	1061					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CAGGATTAATGGAATTGAATG	0.264000														16			5		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242054730	242054730	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242054730G>A	uc002wao.2	-	12	3304	c.3171C>T	c.(3169-3171)tcC>tcT	p.S1057S	PASK_uc010zol.2_Silent_p.S871S|PASK_uc010zom.2_Silent_p.S1022S|PASK_uc010fzl.2_Silent_p.S1057S|PASK_uc010zon.2_Silent_p.S838S|PASK_uc021vzf.1_Silent_p.S1057S|PASK_uc002wap.3_Silent_p.S600S|PASK_uc002waq.3_Silent_p.S1057S	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1057	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCTCCACCCTGGATAGAATTG	0.423000														69			42		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94696948	94696948	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94696948G>A	uc001ycs.1	+	3	473	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	107						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGCAGGAGTGGAAATGCAGTT	0.393000														68			18		0	0	1	0	0
TSGA10	80705	broad.mit.edu	37	2	99725409	99725409	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:99725409G>A	uc002szg.4	-	4	725	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C	TSGA10_uc002szh.4_Missense_Mutation_p.R33C|TSGA10_uc002szi.4_Missense_Mutation_p.R33C|TSGA10_uc010fin.1_Missense_Mutation_p.R33C|TSGA10_uc010yvn.1_Missense_Mutation_p.R33C	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	33					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGTTCTTCACGATCTCTTGTT	0.343000														41			8		0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100390947	100390947	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:100390947C>T	uc003pqh.1	-	3	780	c.465G>A	c.(463-465)ttG>ttA	p.L155L	MCHR2_uc003pqi.1_Silent_p.L155L	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	155						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CCCAAAGGCCCAAATTGATCC	0.473000														86			38		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196799399	196799399	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196799399C>T	uc002utj.4	-	20	3488	c.3387G>A	c.(3385-3387)gaG>gaA	p.E1129E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1129	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGAAATAATCTCTATGAGTT	0.393000														159			68		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091388	9091388	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9091388C>T	uc002mkp.3	-	0	631	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	143	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E143K(3)|p.E143Q(3)		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						GTAGATGCTTCTTTGGTAAAA	0.488000														55			31		0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19375254	19375254	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:19375254G>A	uc002zpf.1	-	10	1313	c.1093C>T	c.(1093-1095)Ccc>Tcc	p.P365S	HIRA_uc011agx.1_Missense_Mutation_p.P231S|HIRA_uc010grn.1_Missense_Mutation_p.P365S|HIRA_uc010gro.2_Missense_Mutation_p.P321S|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	365					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TCGCTCAGGGGATCGCCAAGC	0.572000														23			9		0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38775563	38775563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:38775563G>A	uc003gtj.3	-	3	2287	c.1649C>T	c.(1648-1650)tCa>tTa	p.S550L	TLR10_uc021xnk.1_Missense_Mutation_p.S536L|TLR10_uc003gti.3_Missense_Mutation_p.S550L|TLR10_uc021xnl.1_Missense_Mutation_p.S550L|TLR10_uc003gtk.3_Missense_Mutation_p.S550L|TLR10_uc021xnm.1_Missense_Mutation_p.S550L	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	550	LRRCT.				MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ACAGGTGTATGAATCTGACCA	0.393000														98			32		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76744936	76744936	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:76744936C>T	uc001jwn.1	+	11	2965	c.2472C>T	c.(2470-2472)ttC>ttT	p.F824F	KAT6B_uc001jwm.1_Silent_p.F532F|KAT6B_uc001jwo.1_Silent_p.F532F|KAT6B_uc001jwp.1_Silent_p.F641F	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	824	Catalytic.|Interaction with BRPF1.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TCGAGCCATTCCTTTTTTATG	0.378000														82			12		0	0	1	0	0
SEC61A1	29927	broad.mit.edu	37	3	127783766	127783766	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:127783766C>T	uc003ekb.3	+	7	847	c.663C>T	c.(661-663)gcC>gcT	p.A221A	RUVBL1_uc003ekf.3_3'UTR|SEC61A1_uc003ekc.3_Silent_p.A168A|SEC61A1_uc003ekd.3_Silent_p.A101A|SEC61A1_uc003ekg.3_5'UTR	NM_013336	NP_037468	P61619	S61A1_HUMAN	Homo sapiens Sec61 alpha 1 subunit (S. cerevisiae) (SEC61A1), mRNA.	221					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						ATCTGCTGGCCACACGCACAG	0.507000														102			23		0	0	1	0	0
CBR4	84869	broad.mit.edu	37	4	169923281	169923281	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169923281G>A	uc003iry.3	-	3	704	c.476C>T	c.(475-477)tCa>tTa	p.S159L	CBR4_uc011cjy.2_Non-coding_Transcript|CBR4_uc003irz.2_Missense_Mutation_p.S159L	NM_032783	NP_116172	Q8N4T8	CBR4_HUMAN	Homo sapiens carbonyl reductase 4 (CBR4), mRNA.	159					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		AAGAGCACGTGAAAATCCAAC	0.343000														58			16		0	0	1	0	0
PRSS37	136242	broad.mit.edu	37	7	141536282	141536282	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141536282C>T	uc003vws.2	-	4	993	c.621G>A	c.(619-621)gtG>gtA	p.V207V	PRSS37_uc011krl.2_Silent_p.V206V|PRSS37_uc011krk.2_Silent_p.V194V|PRSS37_uc003vwt.2_Silent_p.V194V	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	207	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						TGAAGTGCCCCACCTCGATTC	0.502000														83			30		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3102863	3102863	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3102863C>T	uc001akf.3	+	1	294	c.212C>T	c.(211-213)cCt>cTt	p.P71L	PRDM16_uc001ake.3_Missense_Mutation_p.P71L|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.P71L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	71					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TACGAGGCCCCTGTCTACATT	0.657000			T	EVI1	"""MDS, AML"""									129			15		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32010529	32010529	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:32010529G>A	uc003jhl.3	+	5	1736	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	PDZD2_uc003jhm.3_Missense_Mutation_p.E450K|PDZD2_uc011cnx.1_Missense_Mutation_p.E276K	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	450					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GACTGATAACGAAGACCAGGA	0.522000														91			18		0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88106515	88106515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:88106515G>A	uc011cdb.1	-	2	1038	c.653C>T	c.(652-654)tCc>tTc	p.S218F	KLHL8_uc003hql.1_Missense_Mutation_p.S218F|KLHL8_uc003hqm.1_Missense_Mutation_p.S142F|KLHL8_uc003hqn.1_Intron|KLHL8_uc010ikj.1_Intron	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	Homo sapiens kelch-like 8 (Drosophila) (KLHL8), mRNA.	218										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ATCACTGGAGGACAAAAGCTT	0.428000														139			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255871	140255871	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140255871G>A	uc003lic.2	+	0	941	c.814G>A	c.(814-816)Gga>Aga	p.G272R	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.G272R	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	287	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGACGAAGGACTTAATGG	0.383000														130			39		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176314494	176314494	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:176314494G>A	uc003mfa.3	-	10	1650	c.1558C>T	c.(1558-1560)Cgc>Tgc	p.R520C	HK3_uc003mez.3_Missense_Mutation_p.R76C	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	520	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCAGCATGCGAAGGGAGGAG	0.652000														29			16		0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38156645	38156645	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:38156645G>A	uc001uwo.4	-	9	1368	c.1250C>T	c.(1249-1251)aCt>aTt	p.T417I	POSTN_uc010tet.2_5'Flank|POSTN_uc001uwp.4_Missense_Mutation_p.T417I|POSTN_uc001uwr.3_Missense_Mutation_p.T417I|POSTN_uc001uwq.3_Missense_Mutation_p.T417I|POSTN_uc010teu.1_Missense_Mutation_p.T417I|POSTN_uc010tev.1_Missense_Mutation_p.T417I|POSTN_uc010tew.1_Missense_Mutation_p.T417I|POSTN_uc010tex.1_Missense_Mutation_p.T332I	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	417	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CATGCTGAGAGTATCATCTGT	0.333000														52			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182156	140182156	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140182156C>T	uc003lhf.2	+	0	1374	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.S458S	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	472	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)			TCTCGCAGTCCGAGTACACGG	0.667000														115			51		0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49357515	49357515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49357515G>A	uc002pkx.3	-	9	1605	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S	PLEKHA4_uc010eml.3_Missense_Mutation_p.P327S	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	352	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TCCAGGGGAGGACCCGGCTGA	0.498000														97			46		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50744969	50744969	+	Missense_Mutation	SNP	G	A	A	rs104895477		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:50744969G>A	uc002egm.1	+	3	1252	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	NOD2_uc021tia.1_Missense_Mutation_p.E215K|NOD2_uc010cbk.1_Missense_Mutation_p.E356K|NOD2_uc002egl.1_Missense_Mutation_p.E161K|NOD2_uc010cbl.1_Missense_Mutation_p.E161K|NOD2_uc010cbm.1_Missense_Mutation_p.E161K|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	383	NACHT.		E -> K (in BS).		JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.D382D(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGGCTTTGACGAGTTCAAGTT	0.542000														55			24		0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51289566	51289566	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:51289566C>T	uc001zyx.2	+	17	2497	c.2390C>T	c.(2389-2391)tCa>tTa	p.S797L	AP4E1_uc021skz.1_Missense_Mutation_p.S722L|AP4E1_uc010bex.1_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	797					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AGAAGGAAATCAAAAGTCAAA	0.323000														31			24		0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022371	120022371	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:120022371G>A	uc003ksq.3	+	1	1045	c.882G>A	c.(880-882)acG>acA	p.T294T	PRR16_uc003ksp.3_Silent_p.T271T|PRR16_uc003ksr.3_Silent_p.T224T	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	294										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CACAGAAGACGATCTTGAGGA	0.398000														40			19		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54299171	54299171	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:54299171C>T	uc002qcj.4	-	8	3263	c.3043G>A	c.(3043-3045)Ggt>Agt	p.G1015S	NLRP12_uc010eqw.3_Missense_Mutation_p.G240S|NLRP12_uc002qch.4_Missense_Mutation_p.G1014S|NLRP12_uc002qci.4_Missense_Mutation_p.G957S|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	1014					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGTCGGACACCTGTGTCCCCT	0.557000														47			10		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957747	111957747	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111957747G>A	uc001eba.3	-	10	1432	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	OVGP1_uc001eaz.3_Missense_Mutation_p.S421F|OVGP1_uc010owb.2_Missense_Mutation_p.S107F	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	459					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CTTTCCAAGGGATACAGTTTC	0.502000														74			28		0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113999705	113999705	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113999705G>A	uc010yxt.2	-	5	647	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	PAX8_uc010yxu.2_Missense_Mutation_p.P161S|PAX8_uc002tjm.3_Missense_Mutation_p.P161S|PAX8_uc002tjn.3_Missense_Mutation_p.P161S|PAX8_uc010fku.1_Missense_Mutation_p.P161S|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	161					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	p.P161S(2)	PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GCTGAGCTGGGGACTGCAGTG	0.642000			T	PPARG	follicular thyroid		Thyroid dysgenesis							15			13		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40933038	40933038	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:40933038G>A	uc002ibj.3	+	0	390	c.322G>A	c.(322-324)Ggc>Agc	p.G108S	WNK4_uc010wgx.2_5'UTR|WNK4_uc002ibk.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	108					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ACCCCCCGAGGGCACGTGGAC	0.731000														11			3		0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102826412	102826412	+	Missense_Mutation	SNP	G	A	A	rs2276093	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102826412G>A	uc001phl.3	-	0	52	c.23C>T	c.(22-24)gCc>gTc	p.A8V		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	8					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GAAGAGGAAGGCAGCCAGGAC	0.517000														75			19		0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109797140	109797140	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:109797140G>A	uc003ymy.1	-	1	293	c.188C>T	c.(187-189)tCt>tTt	p.S63F	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Missense_Mutation_p.S63F	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	63					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GGATGCTGGAGAAGAACTAAG	0.517000														131			12		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072209	17072209	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:17072209C>T	uc002zlp.1	-	0	1492	c.1232G>A	c.(1231-1233)gGa>gAa	p.G411E		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	411					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GGCCCCAGCTCCTGGAATCAG	0.562000														54			28		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171258191	171258191	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:171258191G>A	uc002ufy.3	+	17	2262	c.2119G>A	c.(2119-2121)Gaa>Aaa	p.E707K	MYO3B_uc002ufv.3_Missense_Mutation_p.E694K|MYO3B_uc010fqb.1_Missense_Mutation_p.E707K|MYO3B_uc002ufz.3_Missense_Mutation_p.E707K|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	707	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity	p.E707K(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCAGCCAGACGAAAACATATG	0.527000														34			13		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101778392	101778392	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:101778392G>A	uc004azb.1	+	10	1844	c.1638G>A	c.(1636-1638)tgG>tgA	p.W546*		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	546	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGAAAGATGGATCACTCCAG	0.597000														29			4		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086302	100086302	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:100086302C>T	uc003uvd.1	+	3	1117	c.958C>T	c.(958-960)Cct>Tct	p.P320S	NYAP1_uc003uve.1_Missense_Mutation_p.P102S	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	320	Pro-rich.																CAAGACCACTCCTTGTGAAAT	0.687000														102			48		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149486857	149486857	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:149486857C>T	uc010lpk.3	+	30	4631	c.4631C>T	c.(4630-4632)cCc>cTc	p.P1544L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1544					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTGCCTGGCCCCTCCCCAGGC	0.672000														38			19		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57293412	57293412	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:57293412G>A	uc002qnr.2	-	8	937	c.555C>T	c.(553-555)ttC>ttT	p.F185F	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc010etp.2_Silent_p.F185F|PEG3_uc010ygs.1_Silent_p.F185F|PEG3_uc002qnq.2_Silent_p.F185F	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	322					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R184R(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTCTGGGCTGAAGTCCACAA	0.507000														119			51		0	0	1	0	0
GAS2	2620	broad.mit.edu	37	11	22759280	22759280	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:22759280C>T	uc009yie.3	+	4	745	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F	GAS2_uc001mqm.3_Missense_Mutation_p.L147F|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.L147F	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	147	CH.				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						AGAAGTGTGTCTCTGTCTGCT	0.488000														82			37		0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332550	100332551	+	RNA	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:100332550_100332551GG>AA	uc021sxl.1	-	1		c.602_603CC>TT			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		GGCCGTCGGAGGGACCTCAGCG	0.584000														132			14		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169432679	169432679	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169432679G>A	uc011cjx.2	+	1	235	c.24G>A	c.(22-24)gaG>gaA	p.E8E	PALLD_uc003iru.3_Silent_p.E8E	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	8					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CCTCCCATGAGTCCTTCTATG	0.478000									Pancreatic Cancer, Familial Clustering of					71			26		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169433294	169433294	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:169433294C>T	uc011cjx.2	+	1	850	c.639C>T	c.(637-639)gcC>gcT	p.A213A	PALLD_uc003iru.3_Silent_p.A213A	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	213					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AGCCGTCAGCCCTGCTGAGTG	0.552000									Pancreatic Cancer, Familial Clustering of					107			16		0	0	1	0	0
NDUFS3	4722	broad.mit.edu	37	11	47605940	47605940	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:47605940C>T	uc001nga.2	+	6	784	c.702C>T	c.(700-702)gaC>gaT	p.D234D	NDUFS3_uc001nft.3_Silent_p.D213D|FAM180B_uc001ngb.2_5'Flank	NM_004551	NP_004542	O75489	NDUS3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) (NDUFS3), nuclear gene encoding mitochondrial protein, mRNA.	234					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|electron carrier activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	GCAAATTTGACCTGAACAGCC	0.562000														93			64		0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	326596	326596	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:326596G>A	uc002lok.1	-	5	505	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R166C(2)		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)		GCCAGGAAACGAGCTTTGGGA	0.562000														64			22		0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10176240	10176240	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:10176240C>T	uc004csy.4	+	8	1429	c.999C>T	c.(997-999)ttC>ttT	p.F333F	CLCN4_uc011mid.2_Silent_p.F239F	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	333						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTGAACTCTTCCCCTTCATCC	0.572000														54			65		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98547864	98547864	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:98547864C>T	uc003upp.3	+	36	5501	c.5292C>T	c.(5290-5292)ttC>ttT	p.F1764F	TRRAP_uc011kis.2_Silent_p.F1746F|TRRAP_uc003upr.3_Silent_p.F1463F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1764					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCCCAACTTCGGAGATGAAT	0.418000														85			42		0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122532572	122532572	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:122532572G>A	uc004etq.4	+	6	1290	c.998G>A	c.(997-999)cGg>cAg	p.R333Q	GRIA3_uc004etr.4_Missense_Mutation_p.R333Q|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.R317Q	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	333					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.R333Q(4)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GATGTGTCCCGGAGAGGAAGT	0.483000														11			19		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28993181	28993181	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:28993181C>T	uc002kwr.2	+	14	2938	c.2803C>T	c.(2803-2805)Cca>Tca	p.P935S	DSG4_uc002kwq.2_Missense_Mutation_p.P916S	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	916					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAATGCTGATCCATGTGTGCA	0.433000														144			68		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177198937	177198937	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:177198937C>T	uc001glf.3	+	2	237	c.-75_splice	c.e2-1			NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.							extracellular region				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						ACTTTTCCAGCTCCGAGCCCT	0.557000														17			9		0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97852938	97852938	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:97852938C>T	uc010yva.2	+	30	2289	c.2045C>T	c.(2044-2046)tCt>tTt	p.S682F	ANKRD36_uc010fic.2_Missense_Mutation_p.S401F|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Non-coding_Transcript|ANKRD36_uc002sxq.2_Intron	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	682										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TTTTCAGTGTCTTCTCAGAAA	0.323000														47			12		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132010506	132010506	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:132010506G>A	uc002tsn.2	+	12	1664	c.1612G>A	c.(1612-1614)Gct>Act	p.A538T	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.A138T|POTEE_uc002tsl.2_Missense_Mutation_p.A120T|POTEE_uc010fmy.1_Missense_Mutation_p.A2T	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	538							ATP binding										AAATTTTATGGCTATCGAAGA	0.353000														145			9		0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13107074	13107074	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:13107074C>T	uc010mhy.3	-	44	6073	c.6016G>A	c.(6016-6018)Gat>Aat	p.D2006N	MPDZ_uc003zkx.4_Missense_Mutation_p.D230N|MPDZ_uc003zky.4_Missense_Mutation_p.D569N|MPDZ_uc010mib.3_Missense_Mutation_p.D740N|MPDZ_uc010mhx.3_Missense_Mutation_p.D857N|MPDZ_uc011lmm.2_Missense_Mutation_p.D894N|MPDZ_uc003zkz.4_Missense_Mutation_p.D728N|MPDZ_uc010mhz.3_Missense_Mutation_p.D2002N|MPDZ_uc011lmn.2_Missense_Mutation_p.D1973N|MPDZ_uc003zlb.4_Missense_Mutation_p.D2006N	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	2035	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.G2006G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATGATCTGATCGCCCCTTTTC	0.448000														138			22		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74625024	74625024	+	Silent	SNP	C	T	T	rs149610315		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:74625024C>T	uc002axo.3	+	15	2170	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	CCDC33_uc002axp.3_Silent_p.F414F|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Silent_p.F185F|CCDC33_uc002axr.3_Silent_p.F185F	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	795							protein binding	p.F592F(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTCTAGGCTTCCCTATGCTCT	0.562000														148			44		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77386669	77386669	+	Missense_Mutation	SNP	C	T	T	rs139669465	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:77386669C>T	uc004ajl.1	-	24	3724	c.3486G>A	c.(3484-3486)atG>atA	p.M1162I	TRPM6_uc004ajk.1_Missense_Mutation_p.M1157I|TRPM6_uc022bib.1_Missense_Mutation_p.M1157I|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.M118I	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1162					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCACATCTTCCATCTTCTCAT	0.363000														83			7		0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103484	52103484	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:52103484C>T	uc001jje.3	-	6	1345	c.391G>A	c.(391-393)Gag>Aag	p.E131K	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.E131K|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.E131K|SGMS1_uc021pqo.1_Missense_Mutation_p.E131K|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	137					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	p.E131*(2)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TTGCCCCACTCCATGGGGTAC	0.488000														72			38		0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839493	27839493	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:27839493G>A	uc022bud.1	+	0	70	c.70G>A	c.(70-72)Gat>Aat	p.D24N	MAGEB10_uc004dbw.3_Missense_Mutation_p.D24N	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	24										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AGGGCTGGAAGATTTGATAGA	0.512000														23			15		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54805731	54805731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:54805731C>T	uc001sga.3	-	1	304	c.236G>A	c.(235-237)gGa>gAa	p.G79E	ITGA5_uc010sow.1_Intron|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	79					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CTTGGGTGCTCCCACCAGCAC	0.602000														25			11		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940488	144940488	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:144940488C>T	uc003zaa.1	-	0	6947	c.6934G>A	c.(6934-6936)Gac>Aac	p.D2312N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2312						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGTAGGGGTCGGTGTAGCCG	0.701000														300			14		0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135758808	135758808	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:135758808C>T	uc004fab.3	-	17	2382	c.1920G>A	c.(1918-1920)tcG>tcA	p.S640S	ARHGEF6_uc011mwd.2_Silent_p.S513S|ARHGEF6_uc011mwe.2_Silent_p.S486S	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	640					JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.S640S(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATTCCTCCTCCGATGGTTTTC	0.323000														11			22		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31342524	31342525	+	Silent	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:31342524_31342525CC>TT	uc002ebr.3	+	28	3416_3417	c.3318_3319CC>TT	c.(3316-3321)cccctg>ccTTtg	p.1106_1107PL>PL	ITGAM_uc002ebq.3_Silent_p.1105_1106PL>PL|ITGAM_uc010can.3_Silent_p.511_512PL>PL	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	1105					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TCCCCAACCCCCTGCCGCTCAT	0.673000														39			23		0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148921717	148921717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:148921717C>T	uc003wfm.3	+	7	2099	c.1994C>T	c.(1993-1995)cCg>cTg	p.P665L	ZNF282_uc011kun.1_3'UTR|ZNF282_uc003wfo.3_3'UTR	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	665					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CGGCAGCTCCCGCCGCCTCCT	0.736000														10			4		0	0	1	0	0
DQ570500	0	broad.mit.edu	37	X	43137553	43137553	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:43137553G>A	uc004dfx.3	+	0		c.5G>A								Homo sapiens piRNA piR-30612, complete sequence.																		ACAAACTTCTGAATGGACCCT	0.537000														4			12		0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69109411	69109411	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:69109411C>T	uc001suf.3	+	11	1089	c.974C>T	c.(973-975)cCt>cTt	p.P325L	NUP107_uc001sug.3_Missense_Mutation_p.P172L|NUP107_uc010stj.2_Missense_Mutation_p.P296L	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	325					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTACAGGACCCTGATGCTCCC	0.358000														95			43		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651042	8651042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:8651042C>T	uc002mkj.1	-	21	2898	c.2624G>A	c.(2623-2625)aGg>aAg	p.R875K	ADAMTS10_uc002mki.1_Missense_Mutation_p.R362K|ADAMTS10_uc002mkk.1_Missense_Mutation_p.R507K	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	875	TSP type-1 2.				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						GGCGCGCTGCCTTTTGGGCAG	0.662000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			6		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23862712	23862712	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:23862712C>T	uc001wjv.3	-	22	3015	c.2944G>A	c.(2944-2946)Gag>Aag	p.E982K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	982					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)		GCCATCTCCTCTGTTAGGTTC	0.532000														205			93		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	352969	352969	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:352969G>A	uc001qic.2	-	2	303	c.213C>T	c.(211-213)ttC>ttT	p.F71F	SLC6A13_uc009zdj.2_Silent_p.F71F|SLC6A13_uc010sdl.2_Intron|SLC6A13_uc010sdm.1_5'Flank	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	71					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.F70S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GGTAGGGGATGAAGAAGGCAC	0.527000														45			23		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179733990	179733990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:179733990C>T	uc002une.2	-	14	2366	c.2248G>A	c.(2248-2250)Gag>Aag	p.E750K	CCDC141_uc002unf.1_Missense_Mutation_p.E229K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	175							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCAGTTAACTCCTCTGATTCT	0.338000														64			9		0	0	1	0	0
FABP12	646486	broad.mit.edu	37	8	82441730	82441730	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:82441730G>A	uc011lfp.2	-	1	189	c.189C>T	c.(187-189)atC>atT	p.I63I	FABP12_uc003ycg.4_Non-coding_Transcript	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN	Homo sapiens fatty acid binding protein 12 (FABP12), mRNA.	63							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						GCTTAAAGGAGATCTCATTAT	0.428000														97			45		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	120645	120645	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrGL000209.1:120645C>T	uc010yie.2	+	3	608	c.597C>T	c.(595-597)ttC>ttT	p.F199F	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Silent_p.F196F|KIR2DL2_uc002qum.3_Silent_p.F199F	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	199	Ig-like C2-type 2.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										ACAGATGCTTCGGCTCTTTCC	0.557000														226			76		0	0	1	0	0
CCK	885	broad.mit.edu	37	3	42299704	42299704	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:42299704G>A	uc021wwk.1	-	2	361	c.234C>T	c.(232-234)tcC>tcT	p.S78S	CCK_uc003cld.1_Silent_p.S78S	NM_001174138	NP_001167609	P06307	CCKN_HUMAN	Homo sapiens cholecystokinin (CCK), transcript variant 2, mRNA.	78					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		TCTTAACGATGGACATTCGTC	0.517000														60			26		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327197	150327197	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:150327197C>T	uc022apv.1	-	1	514	c.34G>A	c.(34-36)Gag>Aag	p.E12K	GIMAP6_uc003whn.3_Missense_Mutation_p.E12K|GIMAP6_uc003whm.3_Missense_Mutation_p.E12K	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	12							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGGGATTCTCCTGGGGAATT	0.423000														136			53		0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30033484	30033484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:30033484G>A	uc021qfi.1	-	0	742	c.742C>T	c.(742-744)Ccc>Tcc	p.P248S	KCNA4_uc001msk.3_Missense_Mutation_p.P248S	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	248						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ATATCAAAGGGGACATTGACT	0.488000														137			8		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996099	140996099	+	Missense_Mutation	SNP	C	T	T	rs143297640		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140996099C>T	uc004fbt.3	+	3	3233	c.2909C>T	c.(2908-2910)cCt>cTt	p.P970L	MAGEC1_uc010nsl.2_Missense_Mutation_p.P37L|MAGEC1_uc022cfi.1_Missense_Mutation_p.P629L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	970	MAGE.						protein binding	p.P970H(2)		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)					GAAGTGGACCCTGATGACTCC	0.478000										HNSCC(15;0.026)				60			75		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3334455	3334456	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:3334455_3334456GG>AA	uc001akf.3	+	10	2837_2838	c.2755_2756GG>AA	c.(2755-2757)ggc>AAc	p.G919N	PRDM16_uc001ake.3_Missense_Mutation_p.G919N|PRDM16_uc009vlh.3_Missense_Mutation_p.G619N|PRDM16_uc001akc.3_Missense_Mutation_p.G918N	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	919	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGCGGACTCGGGCAGCTCCCTG	0.604000			T	EVI1	"""MDS, AML"""									112			38		0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24663358	24663358	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:24663358C>T	uc003swx.3	+	2	371	c.72C>T	c.(70-72)ttC>ttT	p.F24F	MPP6_uc003swy.3_Silent_p.F24F	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	24	L27 1.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ACCTAATTTTCCTCAAGGGAA	0.348000														61			25		0	0	1	0	0
GNLY	10578	broad.mit.edu	37	2	85922478	85922478	+	Missense_Mutation	SNP	G	A	A	rs149497301		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:85922478G>A	uc002sql.4	+	1	216	c.88G>A	c.(88-90)Gac>Aac	p.D30N	GNLY_uc010fgp.3_Missense_Mutation_p.D15N|GNLY_uc010ysx.2_Missense_Mutation_p.D57N	NM_006433	NP_006424	P22749	GNLY_HUMAN	Homo sapiens granulysin (GNLY), transcript variant NKG5, mRNA.	30					cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						TGAGTACTACGACCTGGCAAG	0.622000														30			16		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9264799	9264799	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:9264799G>A	uc001qvk.1	-	3	552	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C	A2M_uc009zgk.1_5'UTR	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	147					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GAGACAACACGAAATTTCACT	0.393000														49			10		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32189084	32189084	+	Missense_Mutation	SNP	C	T	T	rs149758111		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:32189084C>T	uc003obb.3	-	3	609	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.R157Q	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	157	EGF-like 4.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACAGAAGTCCCGAAGCTGGCA	0.577000														34			20		0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27582693	27582693	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:27582693G>A	uc003szf.3	-	4	724	c.511C>T	c.(511-513)Ctc>Ttc	p.L171F	HIBADH_uc003szg.3_Missense_Mutation_p.L122F|HIBADH_uc003szi.3_Missense_Mutation_p.L122F	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	171					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	ATAAACGTGAGGTTCCCAGAT	0.458000														42			24		0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98288962	98288962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:98288962C>T	uc003yhy.3	-	0	1215	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	371					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	p.E371Q(2)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CACAATTCTTCGTTGATTATC	0.468000														216			63		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34118537	34118537	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:34118537C>T	uc011kap.2	+	12	1521	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	383	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ATTTAACTTTCAGGGGACGTG	0.572000														137			53		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4153782	4153782	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:4153782G>A	uc003smx.3	+	24	3838	c.3699G>A	c.(3697-3699)ctG>ctA	p.L1233L	SDK1_uc010kso.3_Silent_p.L509L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1233	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTGACCGGCTGGAGAGAGAAT	0.612000														42			12		0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180372697	180372697	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:180372697C>T	uc010hxe.3	-	6	898	c.783G>A	c.(781-783)ttG>ttA	p.L261L	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	261					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTCTTTAACCAAATTTTCTT	0.284000														23			7		0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36982672	36982673	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:36982672_36982673GG>AA	uc010jwp.1	+	7	1058_1059	c.887_888GG>AA	c.(886-888)cgg>cAA	p.R296Q	FGD2_uc003ong.2_Missense_Mutation_p.R18Q|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Missense_Mutation_p.R102Q	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	296					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.E295Q(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCCTAGGAGCGGCTGCAGGACC	0.639000														49			18		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129070703	129070703	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:129070703G>A	uc003kvb.1	+	21	3373	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	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.	1125	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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)		ACATGGAAATGAATGTTTTTC	0.418000														76			27		0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966695	58966695	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58966695C>T	uc002qsv.1	+	3	491	c.384C>T	c.(382-384)gcC>gcT	p.A128A	ZNF324B_uc002qsu.1_Silent_p.A118A|ZNF324B_uc010euq.1_Silent_p.A128A	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AACCGGGTGCCTCCCCATCTC	0.607000														87			35		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40964869	40964869	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:40964869G>A	uc003jmh.3	+	13	1890	c.1776G>A	c.(1774-1776)ggG>ggA	p.G592G	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	592	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TTCCTGTGGGGAAAAATGTAG	0.368000														65			27		0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206869639	206869639	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:206869639G>A	uc002vaz.4	-	10	2942	c.2537C>T	c.(2536-2538)cCc>cTc	p.P846L		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	846					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGTTGTGTGGGGAGAGGTGAT	0.517000														128			13		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174243	51174243	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:51174243G>A	uc021tif.1	-	1	1921	c.1599C>T	c.(1597-1599)gtC>gtT	p.V533V	SALL1_uc021tid.1_Silent_p.V533V|SALL1_uc021tie.1_Silent_p.V630V|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	630					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTGAGTTGGTGACCATGCCAC	0.637000														54			16		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141509	133141509	+	Nonstop_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:133141509T>G	uc003ytj.3	-	14	2844	c.2619A>C	c.(2617-2619)taA>taC	p.*873Y	KCNQ3_uc003yti.3_Nonstop_Mutation_p.*753Y|KCNQ3_uc010mdt.3_Nonstop_Mutation_p.*861Y	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	0					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.I872L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GTGACCTCTTTTAAATGGGCT	0.532000														51			14		0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26502051	26502051	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:26502051G>A	uc003nif.4	+	1	370	c.313G>A	c.(313-315)Ggg>Agg	p.G105R		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	105	Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CATCGCCAAGGGGCGCGTGGC	0.667000														50			8		0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617544	111617544	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:111617544C>T	uc004bdi.3	-	0	732	c.667G>A	c.(667-669)Gac>Aac	p.D223N		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	223						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			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						CCAGCGTAGTCGGCGCGGCTG	0.657000														59			14		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44833552	44833552	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:44833552G>A	uc010xwy.2	-	4	945	c.827C>T	c.(826-828)cCa>cTa	p.P276L	ZFP112_uc010ejj.3_Missense_Mutation_p.P259L|ZFP112_uc002ozc.4_Missense_Mutation_p.P253L|ZFP112_uc010xwz.2_Missense_Mutation_p.P258L	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						CCCAGTACATGGATAGGGCTT	0.428000														106			36		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701966	96701966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:96701966G>A	uc001kka.4	+	2	374	c.349G>A	c.(349-351)Gga>Aga	p.G117R	CYP2C9_uc009xut.3_Missense_Mutation_p.G117R|CYP2C9_uc001kjz.3_Missense_Mutation_p.G117R	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	117					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TTTCAGCAATGGAAAGAAATG	0.522000														69			35		0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922823	17922823	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:17922823C>T	uc002nhl.1	+	2	1158	c.1011C>T	c.(1009-1011)taC>taT	p.Y337Y	B3GNT3_uc010ebd.1_Silent_p.Y337Y|B3GNT3_uc010ebe.1_Silent_p.Y337Y	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	337					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CCTGCTTCTACCGAGACCTGC	0.612000														170			69		0	0	1	0	0
ZNF431	170959	broad.mit.edu	37	19	21366005	21366005	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:21366005C>T	uc010ecr.2	+	4	1049	c.902C>T	c.(901-903)tCc>tTc	p.S301F	ZNF431_uc002npp.2_Missense_Mutation_p.S300F|ZNF431_uc010ecq.2_Missense_Mutation_p.S209F	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	Homo sapiens zinc finger protein 431 (ZNF431), mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S300S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TTCAACCGGTCCTCACACCTT	0.398000														86			22		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158225851	158225851	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158225851G>A	uc001frt.3	+	2	916	c.383G>A	c.(382-384)gGa>gAa	p.G128E	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	128					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AAGGTCTCAGGAAGCTTCTTG	0.438000														106			31		0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45683229	45683229	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:45683229C>T	uc003bfy.3	+	2	412	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L	UPK3A_uc010gzy.3_Intron	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	129					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CTCACAGATCCTGAATGCCTA	0.612000														25			9		0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811137	23811137	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:23811137G>A	uc001ywh.4	+	0	684	c.208G>A	c.(208-210)Gga>Aga	p.G70R	MKRN3_uc001ywi.3_Missense_Mutation_p.G70R|MKRN3_uc010ayi.1_Missense_Mutation_p.G70R	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	70						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CCTCCGCAGAGGAGGCCTGAG	0.657000														51			4		0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130060506	130060507	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:130060506_130060507CC>TT	uc001qfw.3	+	6	985_986	c.792_793CC>TT	c.(790-795)gacctt>gaTTtt	p.L265F	ST14_uc010sca.1_Missense_Mutation_p.L75F	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	265	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCAGCTTTGACCTTGCGTCCTG	0.703000														21			9		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369068	22369068	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22369068C>T	uc010tzu.2	+	0	591	c.493C>T	c.(493-495)Cga>Tga	p.R165*	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R165Q(1)|p.R165R(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCATTGTTCGACTTCCTTT	0.498000														205			42		0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104565220	104565220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:104565220C>T	uc001yop.2	+	5	629	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	ASPG_uc001yoo.2_Missense_Mutation_p.R210W|ASPG_uc001yoq.2_Missense_Mutation_p.R182W|ASPG_uc001yor.2_Missense_Mutation_p.R182W	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	182	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TCAGCTGTTTCGGGGCAACCG	0.607000														24			5		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584325	82584325	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82584325C>T	uc003uhx.2	-	4	6233	c.5944G>A	c.(5944-5946)Gga>Aga	p.G1982R	PCLO_uc003uhv.2_Missense_Mutation_p.G1982R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1913					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						TGCATAAATCCATTTTCTTCT	0.363000														158			37		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834783	125834783	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:125834783G>A	uc001uhe.1	+	1	846	c.838G>A	c.(838-840)Gag>Aag	p.E280K	TMEM132B_uc021rgl.1_Missense_Mutation_p.E170K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	280						integral to membrane		p.D279H(1)		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)		GAGCTTGGACGAGAATGTGGT	0.567000														157			63		0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128595288	128595288	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:128595288C>T	uc003ifk.2	+	5	1204	c.1101C>T	c.(1099-1101)ctC>ctT	p.L367L	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	367										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GTTCATCCCTCCTTTTAAATG	0.303000														49			11		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371608	240371608	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:240371608C>T	uc010pye.2	+	5	3733	c.3508C>T	c.(3508-3510)Ccc>Tcc	p.P1170S	FMN2_uc010pyd.2_Missense_Mutation_p.P1166S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1166	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCCCCACCTCCCCCTCTACC	0.692000														22			16		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53814059	53814059	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:53814059G>A	uc003dgv.4	+	37	4757	c.4594G>A	c.(4594-4596)Gtt>Att	p.V1532I	CACNA1D_uc003dgu.4_Missense_Mutation_p.V1552I|CACNA1D_uc003dgy.4_Missense_Mutation_p.V1517I|CACNA1D_uc003dgw.4_Missense_Mutation_p.V1199I|CACNA1D_uc003dgx.1_Missense_Mutation_p.V708I	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1532					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACAGAGATTAGTTGCCATGAA	0.418000														93			20		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086661	39086661	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:39086661C>T	uc011aej.1	-	2	852	c.799G>A	c.(799-801)Ggg>Agg	p.G267R	KCNJ6_uc002ywo.2_Missense_Mutation_p.G267R	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	267					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CGGTCATCCCCCGTGTAATAC	0.507000														98			46		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36149358	36149358	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:36149358G>A	uc003gsq.2	-	17	3349	c.3011C>T	c.(3010-3012)cCc>cTc	p.P1004L		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1004					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						AGCAAATAAGGGAACAAAATG	0.358000														32			16		0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887907	97887907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:97887907C>T	uc011bgu.2	+	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GGCATATGATCGCTATGTAGC	0.378000														162			27		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37486340	37486341	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:37486340_37486341CC>TT	uc021ppc.1	+	28	2579_2580	c.2480_2481CC>TT	c.(2479-2481)gcc>gTT	p.A827V	ANKRD30A_uc001iza.1_Missense_Mutation_p.A827V	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	883						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A827V(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTAGCCTGCCATTGAAATGC	0.307000														103			36		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85710914	85710914	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:85710914G>A	uc003hpd.3	-	21	4042	c.3634C>T	c.(3634-3636)Ctt>Ttt	p.L1212F		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1212						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCAATATAAAGGGCTGCAGTA	0.428000														91			32		0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399344	46399344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46399344G>A	uc003cpn.4	+	1	811	c.326G>A	c.(325-327)gGg>gAg	p.G109E	CCR2_uc003cpm.4_Missense_Mutation_p.G109E|CCR2_uc021wxa.1_Missense_Mutation_p.G109E	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	109					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TGGGTCTTTGGGAATGCAATG	0.438000														245			102		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62257019	62257019	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:62257019G>A	uc001dab.3	+	9	1183	c.1069_splice	c.e9-1	p.D357_splice	INADL_uc009waf.1_Splice_Site_p.D357_splice|INADL_uc001daa.2_Splice_Site_p.D357_splice|INADL_uc001dad.3_Splice_Site_p.D54_splice	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	357					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTTCCTTTTAGGACAGTTCTC	0.338000														63			7		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111164350	111164350	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:111164350C>T	uc001vqx.3	+	47	5240	c.4951C>T	c.(4951-4953)Cgc>Tgc	p.R1651C		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1651	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGAGGACTTCCGCGCCACACC	0.617000														69			33		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16373106	16373106	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:16373106C>T	uc001axx.4	+	3	442	c.306C>T	c.(304-306)gcC>gcT	p.A102A	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_5'Flank|CLCNKA_uc001axy.4_5'Flank	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	102					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)	ACCCTGTGGCCCTCGTCTCTT	0.597000														66			20		0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37663303	37663303	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:37663303C>T	uc004ddr.2	+	8	1132	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	CYBB_uc011mke.1_Non-coding_Transcript|CYBB_uc011mkf.1_Silent_p.I325I|CYBB_uc011mkg.1_Silent_p.I90I	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	357	FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						ATATCCGCATCGTTGGGGACT	0.468000														56			12		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31432838	31432838	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:31432838C>T	uc010dmi.3	-	10	2183	c.1885G>A	c.(1885-1887)Gaa>Aaa	p.E629K	NOL4_uc010xbs.2_Missense_Mutation_p.E344K|NOL4_uc002kxr.4_Missense_Mutation_p.E401K|NOL4_uc010xbt.2_Missense_Mutation_p.E555K|NOL4_uc010dmh.3_Missense_Mutation_p.E491K|NOL4_uc010xbu.2_Missense_Mutation_p.E565K|NOL4_uc002kxt.4_Missense_Mutation_p.E527K	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	629						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						TTTTCCAGTTCATCTGCAGAT	0.418000														65			6		0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59557575	59557575	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:59557575G>A	uc010ddo.3	+	7	1079	c.916G>A	c.(916-918)Gag>Aag	p.E306K	TBX4_uc002izi.3_Missense_Mutation_p.E306K|TBX4_uc010woy.2_Missense_Mutation_p.E306K	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	306					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTACCAGCACGAGAACGGGGC	0.637000														98			57		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99438711	99438711	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:99438711C>T	uc002szf.1	-	6	2319	c.2025G>A	c.(2023-2025)ccG>ccA	p.P675P		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	675								p.P675P(2)		NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						TGTCCTCACTCGGGGCCGGCT	0.711000														12			8		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51347726	51347726	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:51347726G>A	uc011bds.2	+	27	3009	c.2986G>A	c.(2986-2988)Gac>Aac	p.D996N		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	996						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTTCCCTCGGGACTGGATGGT	0.463000														17			5		0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328875	88328875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:88328875C>T	uc001vln.3	+	1	1451	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	SLITRK5_uc010tic.1_Missense_Mutation_p.P170L|SLITRK5_uc021rlc.1_Missense_Mutation_p.P411L	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	411						integral to membrane		p.N410K(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCCTACAATCCCAAGAAAATG	0.557000														25			10		0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44253805	44253805	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:44253805C>T	uc003oxi.2	-	2	898	c.742G>A	c.(742-744)Gat>Aat	p.D248N	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	248										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCTTGACATCGTACACCAGG	0.592000														67			21		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323175	61323175	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:61323175C>T	uc002lji.3	-	7	1033	c.889G>A	c.(889-891)Gac>Aac	p.D297N	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.D245N	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	297					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.D297N(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CTCAACGTGTCCTTGAGGTCA	0.488000														119			25		0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477323	88477323	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:88477323G>A	uc021rxh.1	+	0	132	c.132G>A	c.(130-132)aaG>aaA	p.K44K	GPR65_uc001xvv.3_Silent_p.K44K	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	44					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TGCAAGCAAAGAAGGAAAGTG	0.368000														123			11		0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151751443	151751443	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151751443G>A	uc009wnb.1	-	5	783	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Missense_Mutation_p.R197W|TDRKH_uc001ezc.4_Missense_Mutation_p.R156W|TDRKH_uc001eza.4_Missense_Mutation_p.R201W|TDRKH_uc001ezd.4_Missense_Mutation_p.R201W|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	201							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATTCTCTTCCGAAGTTCTTCA	0.453000														95			31		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10104455	10104455	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:10104455C>T	uc002mmq.1	-	16	1701	c.1615G>A	c.(1615-1617)Ggc>Agc	p.G539S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	539	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)			CCTGGGAGGCCCCGAGCTCCA	0.572000														125			8		0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27877351	27877351	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27877351G>A	uc021ojw.1	-	0	1276	c.1276C>T	c.(1276-1278)Ctg>Ttg	p.L426L	AHDC1_uc009vsy.3_Silent_p.L426L|AHDC1_uc009vsz.1_Silent_p.L426L	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	426	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGTTCGGCCAGGGCAGCCACC	0.726000														10			4		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	120053765	120053765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:120053765G>A	uc004bjt.2	-	1	571	c.470C>T	c.(469-471)tCg>tTg	p.S157L		NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	157						integral to membrane		p.I156T(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GTGCACCAGCGAGATGTCCGC	0.627000														38			11		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101194818	101194818	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:101194818G>A	uc001dti.3	+	4	1305	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	VCAM1_uc010ouj.2_Missense_Mutation_p.E300K|VCAM1_uc001dtj.3_Intron	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	362	Ig-like C2-type 4.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGTGAGGAGTGAGGGGACCAA	0.507000														125			56		0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68905294	68905294	+	Silent	SNP	G	A	A	rs114379164	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:68905294G>A	uc001dei.1	-	6	729	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	225					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ATTGTACAACGATCTCTGACT	0.363000														102			27		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35631136	35631136	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:35631136G>A	uc002hnm.3	-	8	1036	c.845C>T	c.(844-846)cCc>cTc	p.P282L	ACACA_uc002hnk.3_Missense_Mutation_p.P204L|ACACA_uc002hnl.3_Missense_Mutation_p.P224L|ACACA_uc002hnn.3_Missense_Mutation_p.P282L|ACACA_uc002hno.3_Missense_Mutation_p.P319L|ACACA_uc010cuz.3_Missense_Mutation_p.P282L|ACACA_uc002hnq.2_Missense_Mutation_p.P204L	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	282	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAGCTCCTGGGGAACATTTAA	0.413000														65			38		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140991028	140991028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:140991028C>T	uc004cog.3	+	35	5326	c.5181C>T	c.(5179-5181)ttC>ttT	p.F1727F	CACNA1B_uc022bqn.1_Silent_p.F1727F|CACNA1B_uc004coi.3_Silent_p.F941F|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Intron	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1729	EF-hand.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.L1726F(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGGATGAGTTCATCCGGGTCT	0.557000														47			18		0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74401374	74401374	+	Silent	SNP	G	A	A	rs144543657	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:74401374G>A	uc002jrm.4	-	2	566	c.501C>T	c.(499-501)atC>atT	p.I167I	UBE2O_uc002jrn.4_Silent_p.I167I	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	167							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TGTTGACGTCGATCACCGTGC	0.622000														42			18		0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39118816	39118816	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:39118816C>T	uc002hvo.1	-	4	745	c.709_splice	c.e4-1	p.E237_splice	KRT39_uc010wfm.1_Splice_Site	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	237	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AATTGATTTCCTAAGGAAAGA	0.403000														73			34		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813799	123813799	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:123813799G>A	uc010sab.2	-	0	747	c.747C>T	c.(745-747)gtC>gtT	p.V249V		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CATAGATGATGACCACCACTG	0.512000														87			31		0	0	1	0	0
MPP4	58538	broad.mit.edu	37	2	202549867	202549867	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:202549867C>T	uc002uyk.4	-	7	701	c.493_splice	c.e7-1	p.G165_splice	MPP4_uc010ftj.3_Splice_Site_p.G165_splice|MPP4_uc010zhq.2_Splice_Site_p.G165_splice|MPP4_uc010zht.2_Splice_Site_p.G138_splice|MPP4_uc010zhr.2_Splice_Site_p.G165_splice|MPP4_uc010zhs.2_Splice_Site_p.G121_splice|MPP4_uc002uyj.4_Splice_Site_p.G121_splice|MPP4_uc002uyl.4_Splice_Site|MPP4_uc010ftk.3_Splice_Site_p.G165_splice|MPP4_uc002uym.1_Splice_Site_p.G134_splice|MPP4_uc002uyn.3_Splice_Site_p.G121_splice	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	165	PDZ.					cytoplasm	protein binding			kidney(1)|lung(11)	12						GATGGTGGCTCCCTGAAGAGA	0.542000														16			3		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94935616	94935616	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:94935616C>T	uc003uns.3	-	6	858	c.761G>A	c.(760-762)tGg>tAg	p.W254*	PON1_uc011kih.2_Nonsense_Mutation_p.W254*	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	254					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	AGTTAAAGTCCAATTAGCATG	0.328000														170			36		0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46318912	46318912	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46318912G>A	uc002pdn.3	-	26	3976	c.3731C>T	c.(3730-3732)cCc>cTc	p.P1244L	RSPH6A_uc002pdm.3_5'Flank	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	1244					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GAGGGTCTGGGGGCTCCGCTC	0.692000														17			5		0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78444657	78444657	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:78444657G>A	uc001dii.3	-	0	121	c.32C>T	c.(31-33)tCt>tTt	p.S11F	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Missense_Mutation_p.S11F|DNAJB4_uc010orn.2_5'Flank	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	11					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGAGCCAGAAGAGGGGGGAGG	0.562000			"""F, N"""		oligodendroglioma									37			16		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90398133	90398133	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:90398133C>T	uc003kju.3	+	86	18504	c.18408C>T	c.(18406-18408)ctC>ctT	p.L6136L	GPR98_uc003kjt.3_Silent_p.L3842L|GPR98_uc003kjw.3_Silent_p.L1797L|GPR98_uc003kjx.3_Silent_p.L164L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	6136					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTTGGTTCTCTTTGTCATTT	0.373000											OREG0016703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			6		0	0	1	0	0
HLF	3131	broad.mit.edu	37	17	53345298	53345298	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:53345298C>T	uc002iug.1	+	1	827	c.302C>T	c.(301-303)cCa>cTa	p.P101L	HLF_uc010dce.1_Missense_Mutation_p.P16L|HLF_uc002iuh.2_Missense_Mutation_p.P16L|HLF_uc010wni.1_Missense_Mutation_p.H50Y	NM_002126	NP_002117	Q16534	HLF_HUMAN	Homo sapiens hepatic leukemia factor (HLF), mRNA.	101					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						CCCCCCAGCCCATCTCAGCAT	0.577000			T	TCF3	ALL									145			58		0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315887	50315887	+	Missense_Mutation	SNP	G	A	A	rs11554413		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:50315887G>A	uc001jhf.2	-	1	238	c.209C>T	c.(208-210)tCc>tTc	p.S70F	VSTM4_uc001jhh.2_Missense_Mutation_p.S70F	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	70	Ig-like.					integral to membrane|plasma membrane		p.D69N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGCCTCCTGGGAGTCGAAGGA	0.612000														58			24		0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107600912	107600912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:107600912G>A	uc003vev.2	-	15	2525	c.2364C>T	c.(2362-2364)gcC>gcT	p.A788A	LAMB1_uc003vew.2_Silent_p.A764A|LAMB1_uc003vex.3_Silent_p.A764A	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	764	Laminin EGF-like 6.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.N788N(1)|p.N788K(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGTAACAGGGCAGAAATGC	0.488000														70			5		0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97052660	97052660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:97052660G>A	uc003pos.2	+	3	610	c.194G>A	c.(193-195)gGa>gAa	p.G65E	FHL5_uc003pot.2_Missense_Mutation_p.G65E	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	65	LIM zinc-binding 1.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TGGCATGAAGGATGCTTCAAG	0.428000														66			10		0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95174054	95174054	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:95174054C>T	uc003htb.4	+	8	1354	c.1177C>T	c.(1177-1179)Ctt>Ttt	p.L393F	SMARCAD1_uc003htc.4_Missense_Mutation_p.L393F|SMARCAD1_uc003htd.4_Missense_Mutation_p.L393F|SMARCAD1_uc010ila.3_Missense_Mutation_p.L256F|SMARCAD1_uc011cdw.2_5'Flank	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	393					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TCTTCACTTCCTTCAAGATGC	0.408000														114			16		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47527654	47527654	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47527654C>T	uc003gxk.1	+	4	935	c.771C>T	c.(769-771)ggC>ggT	p.G257G	ATP10D_uc003gxj.3_Silent_p.G257G	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	257					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GATTCCGAGGCTTCCTGTGAG	0.378000														49			12		0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346082	102346082	+	Missense_Mutation	SNP	C	T	T	rs141580524	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:102346082C>T	uc010utr.2	+	0	160	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTCTGACCCTCGTTTACAGTC	0.468000														325			259		0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222818993	222818993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:222818993C>T	uc001hnl.3	+	6	3584	c.3575C>T	c.(3574-3576)tCg>tTg	p.S1192L	MIA3_uc009xea.1_Missense_Mutation_p.S1028L|MIA3_uc001hnm.3_Missense_Mutation_p.S70L	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1192					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GGAATTGCTTCGTTTGCCATT	0.383000														46			17		0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054214	29054214	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:29054214C>T	uc003nlx.3	-	0	877	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AACCATCTTTCCCCAGTCCTT	0.443000														63			9		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26346380	26346380	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26346380G>A	uc003abz.1	+	36	6046	c.5796G>A	c.(5794-5796)gaG>gaA	p.E1932E	MYO18B_uc003aca.1_Silent_p.E1813E|MYO18B_uc010guy.1_Silent_p.E1814E|MYO18B_uc010guz.1_Silent_p.E1812E|MYO18B_uc011aka.1_Silent_p.E1086E|MYO18B_uc011akb.1_Silent_p.E1445E	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1932	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.Q1931K(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						TGCAGCTGGAGGAAGCCAAGA	0.438000														24			6		0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51465237	51465237	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:51465237C>T	uc001jio.3	-	6	1345	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|DQ588224_uc021pqk.1_5'Flank	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	407	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GCATCCCGCTCCTCATATGTC	0.512000														145			48		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432190	140432190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140432190G>A	uc003lik.1	+	0	1212	c.1135G>A	c.(1135-1137)Gga>Aga	p.G379R		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	379	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTCGAGTGGGAGGAAAAGT	0.498000														53			29		0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54153116	54153116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:54153116G>A	uc002rxp.2	-	12	1694	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	PSME4_uc010yop.1_Silent_p.F432F|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Silent_p.F531F	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	546					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACTGTAAGACGAAATCCTCAA	0.363000														61			18		0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124489501	124489501	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124489501G>A	uc001qah.3	+	3	849	c.849G>A	c.(847-849)ttG>ttA	p.L283L		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	Homo sapiens pannexin 3 (PANX3), mRNA.	283					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	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;0.0219)		ACACCATATTGGTTCCAGTGA	0.453000														66			23		0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40424494	40424494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:40424494C>T	uc001cev.3	+	2	570	c.389C>T	c.(388-390)cCc>cTc	p.P130L	MFSD2A_uc010ojb.1_Missense_Mutation_p.P80L|MFSD2A_uc001ceu.3_Missense_Mutation_p.P117L|MFSD2A_uc010ojc.2_Intron|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	130					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CGCCTTATGCCCTGGTGAGTA	0.582000														177			81		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90077323	90077323	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:90077323C>T	uc003kju.3	+	64	13255	c.13159C>T	c.(13159-13161)Cgc>Tgc	p.R4387C	GPR98_uc003kjt.3_Missense_Mutation_p.R2093C|GPR98_uc003kjw.3_Missense_Mutation_p.R48C	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4387					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTCCATTGTTCGCATCATAAT	0.363000														23			10		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039417	31039417	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:31039417C>T	uc002nsu.1	+	3	3029	c.2891C>T	c.(2890-2892)tCc>tTc	p.S964F	ZNF536_uc010edd.1_Missense_Mutation_p.S964F	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	964					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCAAGTCCTCCCAGAGGAAG	0.582000														161			31		0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24671403	24671403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24671403G>A	uc021oiw.1	+	11	1666	c.1436G>A	c.(1435-1437)gGa>gAa	p.G479E	GRHL3_uc001bix.3_Missense_Mutation_p.G479E|GRHL3_uc021oix.1_Missense_Mutation_p.G433E|GRHL3_uc001biy.3_Missense_Mutation_p.G484E|GRHL3_uc001biz.3_Missense_Mutation_p.G386E	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	479					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCCTCGGCAGGACCCAGCAGC	0.597000														52			15		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209790845	209790845	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:209790845G>A	uc001hhg.3	-	19	3528	c.3138C>T	c.(3136-3138)ctC>ctT	p.L1046L	LAMB3_uc009xco.3_Silent_p.L1046L|LAMB3_uc001hhh.3_Silent_p.L1046L	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	1046	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTTGGTGGCGGAGCTCCTCCA	0.607000														89			29		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129281993	129281993	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:129281993G>A	uc003emx.2	-	25	4712	c.4612C>T	c.(4612-4614)Cgc>Tgc	p.R1538C	PLXND1_uc011blb.1_Missense_Mutation_p.R206C	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1538					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGTGTGTAGCGGGCCTTGCCT	0.642000														34			6		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43376150	43376150	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:43376150C>T	uc002ovd.1	-	2	616	c.478G>A	c.(478-480)Gag>Aag	p.E160K	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.E160K|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Missense_Mutation_p.E160K|PSG3_uc002ovb.3_Missense_Mutation_p.E160K	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	160	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TCCATGGTCTCCCTGGGATTT	0.537000														200			81		0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87027688	87027688	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:87027688G>A	uc003dqn.3	-	1	755	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CGCCATAGGGGGGTTAGCCCC	0.507000														93			41		0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74328294	74328294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74328294C>T	uc002skb.4	+	8	3974	c.3974C>T	c.(3973-3975)tCg>tTg	p.S1325L		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1325							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGTGTGTTCTCGTCTGGGGAG	0.612000														28			9		0	0	1	0	0
RPS5	6193	broad.mit.edu	37	19	58906062	58906062	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:58906062C>T	uc002qsn.3	+	5	632	c.560C>T	c.(559-561)tCc>tTc	p.S187F	LOC646862_uc021vcz.1_5'Flank	NM_001009	NP_001000	P46782	RS5_HUMAN	Homo sapiens ribosomal protein S5 (RPS5), mRNA.	187					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		TCCTCGAACTCCTATGCCATT	0.567000														124			46		0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113704138	113704138	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:113704138C>T	uc001tux.3	+	4	781	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	TPCN1_uc001tuw.3_Missense_Mutation_p.P131S|TPCN1_uc010syt.1_Missense_Mutation_p.P63S	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	131						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CCCCGCCGTCCCCGCACTCCG	0.632000														255			127		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76437211	76437211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:76437211C>T	uc010dhp.2	-	71	11724	c.11599G>A	c.(11599-11601)Gag>Aag	p.E3867K	DNAH17_uc002jvq.3_Missense_Mutation_p.E152K|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTGCTCTCCTCGTAGGACTTA	0.557000														29			16		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60753853	60753853	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:60753853G>A	uc002jad.3	+	10	2197	c.1795G>A	c.(1795-1797)Gat>Aat	p.D599N	MRC2_uc010ddq.1_Non-coding_Transcript	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	599	C-type lectin 3.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCTCAGTGGGGATGAAGTCAT	0.617000														97			43		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767873	105767873	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:105767873G>A	uc004bbs.2	+	4	1030	c.960G>A	c.(958-960)aaG>aaA	p.K320K		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	320	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.K320T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				aggatgcaaagaaaaatgcta	0.398000														21			7		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143679	55143679	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55143679C>T	uc002qgj.3	+	5	992	c.652C>T	c.(652-654)Ctg>Ttg	p.L218L	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.L218L|LILRB1_uc002qgk.3_Silent_p.L218L|LILRB1_uc002qgm.3_Silent_p.L218L|LILRB1_uc010erq.3_Silent_p.L218L|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.	218	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			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)		CCTGGAGCTCCTGGTCCTAGG	0.592000										HNSCC(37;0.09)				147			48		0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153043320	153043320	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:153043320C>T	uc003qpc.4	+	1	648	c.640C>T	c.(640-642)Cga>Tga	p.R214*		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	214						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TAACAGTCTTCGAGTGGGCCT	0.512000														45			36		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475757	140475757	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140475757C>T	uc003lil.3	+	0	1521	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	PCDHB2_uc003lim.1_Silent_p.F122F	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	461	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.L460M(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.632000														207			54		0	0	1	0	0
GPX3	2878	broad.mit.edu	37	5	150407676	150407677	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:150407676_150407677GG>AA	uc021yga.1	+	4	883_884	c.666_667GG>AA	c.(664-669)ggggtc>ggAAtc	p.V223I		NM_002084	NP_002075	P22352	GPX3_HUMAN	Homo sapiens glutathione peroxidase 3 (plasma) (GPX3), mRNA.	223					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	CAGCCCTGGGGGTCAAGAGGAA	0.564000														5			3		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488791	20488791	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:20488791C>T	uc001ytf.1	+	1		c.274C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		AGAGACCTCTCTCATGAGAAC	0.413000														113			21		0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2472296	2472296	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:2472296C>T	uc003smc.3	+	1	185	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	CHST12_uc003smd.3_Missense_Mutation_p.R8W|CHST12_uc021zyu.1_Missense_Mutation_p.R8W|CHST12_uc021zyv.1_Missense_Mutation_p.R8W	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	8					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CCGGCTGTTCCGGCTGTGGCT	0.657000														35			17		0	0	1	0	0
RASL12	51285	broad.mit.edu	37	15	65347440	65347440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:65347440C>T	uc002aoi.1	-	4	813	c.598G>A	c.(598-600)Gag>Aag	p.E200K	RASL12_uc002aoj.1_Missense_Mutation_p.E181K|RASL12_uc010uir.1_Missense_Mutation_p.E189K	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN	Homo sapiens RAS-like, family 12 (RASL12), mRNA.	200					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GCCCTCTCCTCGGAGATGAAG	0.662000														21			12		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38655274	38655274	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:38655274G>A	uc021wvo.1	-	4	715	c.663C>T	c.(661-663)ttC>ttT	p.F221F	SCN5A_uc021wvk.1_Intron|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Intron|SCN5A_uc021wvn.1_Silent_p.F221F|SCN5A_uc021wvp.1_Intron|SCN5A_uc021wvq.1_Silent_p.F221F|SCN5A_uc021wvr.1_Silent_p.F221F|SCN5A_uc021wvs.1_Intron|SCN5A_uc021wvt.1_Intron|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Intron|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Intron|SCN5A_uc010hhl.1_Intron	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	221					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGAGGACTCGGAAGGTGCGTA	0.483000														18			7		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86702171	86702171	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:86702171G>A	uc002blz.1	+	3	344	c.264G>A	c.(262-264)atG>atA	p.M88I		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	88					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						TAGTCTCCATGGGAGCCATGC	0.443000														111			31		0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38884037	38884037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:38884037G>A	uc003avy.4	-	11	1634	c.1531C>T	c.(1531-1533)Cgt>Tgt	p.R511C	DDX17_uc003avw.4_5'UTR|DDX17_uc003avx.4_Missense_Mutation_p.R511C	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	432					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TTGGTGCTACGGGCTGTTCGG	0.483000														129			48		0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19974856	19974856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:19974856G>A	uc003cbl.4	-	0	851	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S	EFHB_uc003cbm.3_Missense_Mutation_p.P89S	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	219					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TGGCATTGGGGAGGTTCTATC	0.502000														86			33		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196659121	196659121	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:196659121G>A	uc002utj.4	-	56	10758	c.10657C>T	c.(10657-10659)Cga>Tga	p.R3553*	DNAH7_uc002uti.4_Nonsense_Mutation_p.R36*	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3553	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGTATGATCGAATGATATTA	0.453000														103			50		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124095411	124095411	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:124095411C>T	uc010saf.2	+	0	14	c.14C>T	c.(13-15)tCc>tTc	p.S5F		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	5						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GTTTTTCTTTCCTCCGTAGAA	0.453000														19			9		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723933	7723933	+	Silent	SNP	C	T	T	rs141193119		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:7723933C>T	uc001aoi.3	+	8	1533	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.K441N(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCCACAAGTTCGCCTTTCCCA	0.652000			T	WWTR1	epitheliod hemangioendothelioma									59			21		0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59828646	59828646	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59828646G>A	uc001nom.3	+	1	141	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	MS4A3_uc001non.3_Missense_Mutation_p.E5K|MS4A3_uc001noo.3_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	5						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GGCCTCCCACGAAGTTGATAA	0.483000														67			25		0	0	1	0	0
GNB3	2784	broad.mit.edu	37	12	6953077	6953077	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6953077G>A	uc001qrd.3	+	8	1039	c.634G>A	c.(634-636)Gat>Aat	p.D212N	GNB3_uc001qrc.3_Missense_Mutation_p.D168N|GNB3_uc009zfe.3_Missense_Mutation_p.D211N	NM_002075	NP_002066	P16520	GBB3_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 3 (GNB3), mRNA.	212					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CAAGCTCTGGGATGTGCGAGA	0.577000														77			27		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874097	36874097	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:36874097G>A	uc003cgj.3	-	20	7093	c.6845C>T	c.(6844-6846)tCc>tTc	p.S2282F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2282					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAGGTCTGTGGATTCCCGGCG	0.483000														42			19		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13901376	13901376	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13901376C>T	uc003jfd.2	-	13	2079	c.2037G>A	c.(2035-2037)agG>agA	p.R679R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	679	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)					GAAGCCACGCCCTGTGGAAGA	0.478000									Kartagener syndrome					43			16		0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247063417	247063417	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:247063417G>A	uc001ibv.2	-	9	1506	c.1409C>T	c.(1408-1410)cCt>cTt	p.P470L	AHCTF1_uc009xgs.1_5'Flank	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	461	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGGATATGAAGGAGGGACTCC	0.368000														187			61		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721269	160721269	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:160721269C>T	uc003lys.1	-	10	1576	c.1358G>A	c.(1357-1359)cGa>cAa	p.R453Q	GABRB2_uc011deh.1_Missense_Mutation_p.R254Q|GABRB2_uc003lyr.1_Missense_Mutation_p.R415Q|GABRB2_uc003lyt.1_Missense_Mutation_p.R415Q	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	453					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGAGCATTTCGGCCAAAACT	0.532000														61			29		0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68802034	68802034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:68802034G>A	uc021xag.1	-	3	759	c.266C>T	c.(265-267)gCt>gTt	p.A89V	FAM19A4_uc021xah.1_Missense_Mutation_p.A89V	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 (FAM19A4), transcript variant 1, mRNA.	89						extracellular region		p.R88Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		AGAAGGTTGAGCCCGAGTTGT	0.517000														85			28		0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12814536	12814536	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:12814536G>A	uc002mup.3	-	16	2840	c.2378C>T	c.(2377-2379)cCc>cTc	p.P793L	TNPO2_uc002muq.3_Missense_Mutation_p.P701L|TNPO2_uc002muo.3_Missense_Mutation_p.P701L|TNPO2_uc002mur.3_Missense_Mutation_p.P701L	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	701					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.R792W(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACCGATACAGGGCTTGACATG	0.577000														9			3		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955846	51955846	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51955846C>T	uc002pwt.3	-	6	1354	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K	SIGLEC8_uc010yda.2_Silent_p.K320K|SIGLEC8_uc002pwu.3_Intron|SIGLEC8_uc010eox.2_Silent_p.K336K	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	429					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)		GGGGAGGCTTCTTCAGGGGGT	0.592000														51			8		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138414689	138414689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:138414689G>A	uc002tva.1	+	22	4244	c.4244G>A	c.(4243-4245)cGa>cAa	p.R1415Q	THSD7B_uc010zbj.1_Non-coding_Transcript	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)		AATAACGAACGAACTGTATGG	0.413000														48			16		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49654453	49654453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:49654453C>T	uc001jgu.3	-	9	2423	c.2126G>A	c.(2125-2127)gGt>gAt	p.G709D	ARHGAP22_uc001jgs.3_Missense_Mutation_p.G603D|ARHGAP22_uc001jgt.3_Missense_Mutation_p.G693D|ARHGAP22_uc010qgl.2_Missense_Mutation_p.G650D|ARHGAP22_uc010qgm.2_Missense_Mutation_p.G699D|ARHGAP22_uc001jgv.3_Missense_Mutation_p.G391D|ARHGAP22_uc001jgr.3_Missense_Mutation_p.G410D	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	693					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCCCTGGCACCTTTTGCCCC	0.542000														85			20		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50949255	50949255	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:50949255C>T	uc002psf.2	+	11	1303	c.1252C>T	c.(1252-1254)Cgc>Tgc	p.R418C		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	418	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GGACAGGGGTCGCTATCAGGT	0.597000														20			5		0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50813813	50813813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:50813813C>T	uc021tib.1	+	6	1499	c.1376C>T	c.(1375-1377)cCc>cTc	p.P459L	CYLD_uc002ego.3_Missense_Mutation_p.P456L|CYLD_uc010cbs.1_Missense_Mutation_p.P456L|CYLD_uc002egp.1_Missense_Mutation_p.P456L|CYLD_uc002egq.1_Missense_Mutation_p.P456L|CYLD_uc002egr.1_Missense_Mutation_p.P456L|CYLD_uc002egs.1_Missense_Mutation_p.P456L	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	459	Interaction with TRAF2.|Interaction with TRIP.				Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GAGAGTCCACCCTTGGCCATG	0.512000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					87			17		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101844953	101844953	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:101844953C>T	uc003uys.4	+	17	2536	c.2409C>T	c.(2407-2409)ccC>ccT	p.P803P	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.P792P	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	792					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGGACGCCCCCGGGCTGGACC	0.667000														39			20		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713440	222713440	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:222713440G>A	uc001hnh.1	-	3	1420	c.1362C>T	c.(1360-1362)gaC>gaT	p.D454D		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	454					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCAAAATGAGGTCAACCTCTT	0.517000														112			45		0	0	1	0	0
YIPF3	25844	broad.mit.edu	37	6	43481164	43481164	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:43481164G>A	uc003ovl.2	-	4	650	c.467C>T	c.(466-468)cCt>cTt	p.P156L	LRRC73_uc003ovk.1_5'Flank|YIPF3_uc011dvk.2_Missense_Mutation_p.P121L	NM_015388	NP_056203	Q9GZM5	YIPF3_HUMAN	Homo sapiens Yip1 domain family, member 3 (YIPF3), mRNA.	156					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CAGCATGAGAGGTCCATAGAG	0.478000														33			19		0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141325255	141325255	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:141325255C>T	uc003llx.3	-	3	4457	c.3246G>A	c.(3244-3246)gaG>gaA	p.E1082E		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	1082					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTTGGCTCCTCCGTGGCTG	0.632000														77			25		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411827	51411827	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:51411827T>G	uc001nhi.2	-	0	622	c.569A>C	c.(568-570)tAc>tCc	p.Y190S		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GCCTATAAAGTAGGTGTCAGT	0.423000														44			15		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37346438	37346438	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:37346438G>A	uc001caz.2	-	2	482	c.347C>T	c.(346-348)tCc>tTc	p.S116F	GRIK3_uc001cba.1_Missense_Mutation_p.S116F	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	116					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ATTGGTGCAGGAGCCCTGTGA	0.632000														20			13		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26312975	26312975	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:26312975G>A	uc001isn.2	+	8	1116	c.756G>A	c.(754-756)caG>caA	p.Q252Q	MYO3A_uc009xko.1_Silent_p.Q252Q|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.Q252Q	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	252	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AACTAAGGCAGCCTGAGCTAT	0.378000														141			55		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57761270	57761270	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:57761270C>T	uc002emi.3	+	14	2234	c.2145C>T	c.(2143-2145)tcC>tcT	p.S715S	CCDC135_uc002emj.3_Silent_p.S715S|CCDC135_uc002emk.3_Silent_p.S650S	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	715						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGACCATCTCCATCTATGACA	0.557000														93			46		0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733072	56733072	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56733072G>A	uc002qmq.3	-	4	1529	c.1363C>T	c.(1363-1365)Ctg>Ttg	p.L455L	ZSCAN5A_uc010ygi.2_Silent_p.L338L|ZSCAN5A_uc002qmr.3_Silent_p.L455L|ZSCAN5A_uc002qms.1_Silent_p.L454L	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	455					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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						TGCTCCTTCAGGCTCCCCCTG	0.507000														49			19		0	0	1	0	0
CD247	919	broad.mit.edu	37	1	167407814	167407814	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167407814C>T	uc001gei.4	-	3	438	c.293G>A	c.(292-294)gGa>gAa	p.G98E	CD247_uc001gej.4_Missense_Mutation_p.G98E|CD247_uc001gek.2_Missense_Mutation_p.G98E	NM_198053	NP_932170	P20963	CD3Z_HUMAN	Homo sapiens CD247 molecule (CD247), transcript variant 1, mRNA.	98					T cell costimulation|T cell receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			TACCGGCTTTCCCCCCATCTC	0.562000														89			52		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768356	88768356	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:88768356G>A	uc001kee.2	+	11	1551	c.347G>A	c.(346-348)gGg>gAg	p.G116E	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	116					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GACACCATCGGGAGCGGCAGA	0.512000														358			139		0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729258	62729258	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:62729258C>T	uc002yic.3	+	3	756	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	OPRL1_uc002yid.3_Silent_p.L113L|OPRL1_uc021wgs.1_Silent_p.L113L|OPRL1_uc002yif.4_Silent_p.L108L	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	113					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GGACATCCTCCTGGGCTTCTG	0.532000														103			60		0	0	1	0	0
LCE3C	353144	broad.mit.edu	37	1	152573387	152573387	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152573387C>T	uc001fac.2	+	0	250	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_178434	NP_848521	Q5T5A8	LCE3C_HUMAN	Homo sapiens late cornified envelope 3C (LCE3C), mRNA.	60					keratinization					lung(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		ACAGGCACTTCAGGTCCCATC	0.642000														35			39		0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52908793	52908793	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:52908793C>T	uc001san.3	-	8	1869	c.1706G>A	c.(1705-1707)gGg>gAg	p.G569E		NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	569	Ser-rich.|Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTGCTACCCCCGCCACTGCC	0.622000														43			32		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3000169	3000169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:3000169G>A	uc022aqr.1	-	40	6449	c.6059C>T	c.(6058-6060)tCt>tTt	p.S2020F	CSMD1_uc011kwj.2_Missense_Mutation_p.S1413F|CSMD1_uc010lrg.3_Missense_Mutation_p.S89F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2021	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGCTTCGGTAGAAAAATTCAG	0.398000														112			31		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511288	61511288	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:61511288G>A	uc002ydr.2	-	15	6332	c.6020C>T	c.(6019-6021)tCg>tTg	p.S2007L	DIDO1_uc002yds.2_Missense_Mutation_p.S2007L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	2007	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGAAATCGCGAAGGGGTCTG	0.632000														191			14		0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241812411	241812411	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241812411C>T	uc002waa.4	+	4	661	c.540C>T	c.(538-540)ctC>ctT	p.L180L	AGXT_uc010zoi.1_Silent_p.L180L	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	180					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGTGCCTGCTCCTGGTGGATT	0.657000														124			29		0	0	1	0	0
TMEM190	147744	broad.mit.edu	37	19	55889179	55889179	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55889179G>A	uc002qkt.1	+	3	248	c.230G>A	c.(229-231)cGg>cAg	p.R77Q		NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	Homo sapiens transmembrane protein 190 (TMEM190), mRNA.	77						integral to membrane				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GAAAACGTGCGGAGGAAGCAC	0.677000														47			6		0	0	1	0	0
STS	412	broad.mit.edu	37	X	7171326	7171326	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:7171326C>T	uc004cry.4	+	1	346	c.101C>T	c.(100-102)gCt>gTt	p.A34V	STS_uc004crw.2_Non-coding_Transcript|STS_uc011mhp.1_Non-coding_Transcript|STS_uc004crx.1_Non-coding_Transcript	NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	34					female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CTGGTGATGGCTGACGACCTC	0.502000									Ichthyosis					33			15		0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170688909	170688909	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:170688909G>A	uc001ghf.3	+	1	331	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	PRRX1_uc001ghe.3_Missense_Mutation_p.R95Q	NM_022716	NP_073207	P54821	PRRX1_HUMAN	Homo sapiens paired related homeobox 1 (PRRX1), transcript variant pmx-1b, mRNA.	95						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAAAGCAGCGAAGGAATAGG	0.458000														29			9		0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59373296	59373296	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:59373296C>T	uc002afv.3	+	7	2389	c.2110C>T	c.(2110-2112)Cct>Tct	p.P704S	RNF111_uc002afs.3_Missense_Mutation_p.P704S|RNF111_uc002aft.3_Missense_Mutation_p.P704S|RNF111_uc002afu.3_Missense_Mutation_p.P703S|RNF111_uc002afw.3_Missense_Mutation_p.P704S|RNF111_uc002afx.3_Missense_Mutation_p.P230S	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	704	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AACATCTCATCCTGTGGCACC	0.507000														165			22		0	0	1	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242741358	242741358	+	Silent	SNP	C	T	T	rs140456342		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:242741358C>T	uc002wcj.1	+	2	413	c.282C>T	c.(280-282)taC>taT	p.Y94Y		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA.	94					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.G93C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACCTGGGCTACCCCTGGCTCT	0.657000														49			23		0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66416266	66416266	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:66416266G>A	uc002apm.2	-	2	312	c.171C>T	c.(169-171)atC>atT	p.I57I	MEGF11_uc002apl.2_Missense_Mutation_p.S16F|MEGF11_uc002apn.1_Silent_p.I57I	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	57	EMI.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						ACCAGTTGAGGATGTCTGTGC	0.532000														92			17		0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62373637	62373637	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:62373637G>A	uc010rly.1	-	12	1862	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	EML3_uc001ntr.1_Silent_p.F490F|EML3_uc001nts.1_Silent_p.F490F|EML3_uc001ntt.1_Silent_p.F402F|EML3_uc001ntu.1_Silent_p.F518F|EML3_uc009yny.1_Silent_p.F301F			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	518						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GACACAAGGCGAAGATAGAAC	0.637000														63			31		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071252	9071252	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9071252G>A	uc002mkp.3	-	2	16398	c.16194C>T	c.(16192-16194)atC>atT	p.I5398I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5400	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						TCTCATGAGTGATGCTGCTCA	0.507000														279			124		0	0	1	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29781859	29781859	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:29781859C>T	uc003tai.3	+	10		c.961C>T								Homo sapiens dpy-19-like 2 pseudogene 3 (C. elegans) (DPY19L2P3), transcript variant 1, non-coding RNA.																		ATGCCAGGCTCGAAGATGCCA	0.468000														31			4		0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28024255	28024255	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:28024255G>A	uc001ity.4	-	3	622	c.397C>T	c.(397-399)Cga>Tga	p.R133*	MKX_uc001itx.4_Nonsense_Mutation_p.R133*	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	133					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TCTGGCTGTCGAACGGTATTC	0.368000														72			37		0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768414	121768414	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:121768414G>A	uc003pyr.3	+	1	671	c.421G>A	c.(421-423)Gag>Aag	p.E141K	GJA1_uc011ebo.1_Missense_Mutation_p.E42K|GJA1_uc011ebp.1_Intron|GJA1_uc021zel.1_Missense_Mutation_p.E141K	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	141					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CGGTATTGAAGAGCATGGTAA	0.453000														46			40		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173411	207173411	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:207173411G>A	uc002vbp.2	+	4	4409	c.4159G>A	c.(4159-4161)Gaa>Aaa	p.E1387K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1387							nucleic acid binding|zinc ion binding	p.E1387K(3)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACCTGTCAAAGAAATAAATCT	0.353000														35			21		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60887760	60887760	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:60887760T>C	uc002ycq.3	-	66	9222	c.9155A>G	c.(9154-9156)gAg>gGg	p.E3052G	LAMA5_uc021wfw.1_Missense_Mutation_p.E3052G	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3052	Laminin G-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTGTCCTGCTCCACGCTGTA	0.687000														12			3		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117609777	117609777	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:117609777C>T	uc003pxp.1	-	42	7121	c.6922G>A	c.(6922-6924)Gaa>Aaa	p.E2308K	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2308					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E2308Q(3)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCATGTGGTTCCTTCTCTTCT	0.483000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									34			28		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68617472	68617472	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:68617472G>A	uc010bib.3	-	17	2406	c.2319C>T	c.(2317-2319)gtC>gtT	p.V773V	ITGA11_uc002ari.3_Silent_p.V773V	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	773					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GATGTACCGAGACTCTGAGAG	0.622000														57			40		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19566052	19566052	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:19566052C>T	uc001vuz.1	+	5	1148	c.1096C>T	c.(1096-1098)Cta>Tta	p.L366L	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript|P712P_uc001vvb.3_Intron	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	366										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AAAACAGATGCTAAAAGTCTC	0.308000														161			12		0	0	1	0	0
CINP	51550	broad.mit.edu	37	14	102816294	102816294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:102816294C>T	uc021sea.1	-	3	532	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	CINP_uc001ylu.1_Non-coding_Transcript|CINP_uc001ylv.1_Missense_Mutation_p.R133Q|CINP_uc021seb.1_Intron	NM_001177611	NP_001171082	Q9BW66	CINP_HUMAN	Homo sapiens cyclin-dependent kinase 2 interacting protein (CINP), transcript variant 1, mRNA.	133					DNA repair|DNA replication|cell cycle|cell division	nucleus	protein binding			large_intestine(2)|lung(2)	4						CAGAGGGGGTCGTTTACTCTC	0.413000														45			20		0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148748050	148748050	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:148748050C>T	uc003lqk.2	+	5	1380	c.1318C>T	c.(1318-1320)Cat>Tat	p.H440Y	PCYOX1L_uc003lql.2_Missense_Mutation_p.H423Y|PCYOX1L_uc010jgz.2_Missense_Mutation_p.H364Y|PCYOX1L_uc003lqm.2_Missense_Mutation_p.H322Y|PCYOX1L_uc003lqn.2_Missense_Mutation_p.H350Y	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.	440					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTGCACTCCATGACCAGCT	0.607000														78			29		0	0	1	0	0
GH1	2688	broad.mit.edu	37	17	61994690	61994690	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:61994690C>T	uc002jdj.3	-	4	695	c.633G>A	c.(631-633)gtG>gtA	p.V211V	GH1_uc002jdi.3_Silent_p.V196V|GH1_uc002jdk.3_Silent_p.V171V|GH1_uc002jdl.3_Silent_p.V116V|GH1_uc002jdm.3_3'UTR|GH1_uc002jdn.3_Nonsense_Mutation_p.W165*	NM_000515	NP_000506	P01241	SOMA_HUMAN	Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.	211					JAK-STAT cascade|glucose transport|growth hormone receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						AGCTGCCCTCCACAGAGCGGC	0.617000														41			20		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168199802	168199802	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:168199802C>T	uc010jjg.3	-	13	1863	c.1443G>A	c.(1441-1443)aaG>aaA	p.K481K	SLIT3_uc003mab.3_Silent_p.K481K|SLIT3_uc010jji.2_Silent_p.K481K|SLIT3_uc003mac.1_Silent_p.K278K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	481	LRRCT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCGGAACTTCTTGCTCTTGA	0.607000														46			15		0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143712381	143712381	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:143712381G>A	uc010fnm.3	+	5	592	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	KYNU_uc002tvk.3_Missense_Mutation_p.A126T|KYNU_uc002tvl.3_Missense_Mutation_p.A126T	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	126					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.A126T(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TTTTACAGGAGCCAATGAGAA	0.299000														68			27		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101365178	101365178	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:101365178C>T	uc010svm.1	+	5	1123	c.551C>T	c.(550-552)cCt>cTt	p.P184L	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.P149L|ANO4_uc001thx.2_Missense_Mutation_p.P184L	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	184						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						GTAAGAATGCCTTTCAGGTAG	0.373000										HNSCC(74;0.22)				72			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106725366	106725366	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:106725366C>T	uc021ser.1	-	927		c.22146G>A								Parts of antibodies, mostly variable regions.																		ACTCCAGCCCCTTCCCTGGAG	0.577000														490			51		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48752648	48752648	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:48752648G>A	uc003xqi.3	-	55	7437	c.7380C>T	c.(7378-7380)ttC>ttT	p.F2460F	PRKDC_uc003xqj.3_Silent_p.F2460F	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2461	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GATGGGAAACGAATTCCACAA	0.333000								Non-homologous end-joining						8			3		0	0	1	0	0
EMBP1	647121	broad.mit.edu	37	1	121306489	121306489	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:121306489G>A	uc009wht.1	+	0	66	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	EMBP1_uc001eiu.1_Non-coding_Transcript					Homo sapiens embigin pseudogene 1 (EMBP1), non-coding RNA.																		ATATGCTAATGAAACAAAGCT	0.363000														49			21		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178418910	178418910	+	Missense_Mutation	SNP	C	T	T	rs17078901		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178418910C>T	uc003mjr.3	-	1	858	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	227			E -> V (in dbSNP:rs17078898).		detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ACCCCACTTTCGCCATAGTTG	0.637000														28			11		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211456679	211456679	+	Missense_Mutation	SNP	G	A	A	rs149930500		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:211456679G>A	uc010fur.3	+	10	1172	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N	CPS1_uc002vee.4_Missense_Mutation_p.D358N|CPS1_uc010fus.3_5'Flank	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	358	Glutamine amidotransferase type-1.				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			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)		GAATGTCAACGATCAAACAAA	0.378000														40			8		0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48142633	48142634	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:48142633_48142634GG>AA	uc001rpz.4	-	10	1672_1673	c.1122_1123CC>TT	c.(1120-1125)ggccct>ggTTct	p.P375S	RAPGEF3_uc010sln.2_5'Flank|RAPGEF3_uc001rpy.3_5'Flank|RAPGEF3_uc009zkp.3_Missense_Mutation_p.P333S|RAPGEF3_uc009zkq.3_Missense_Mutation_p.P333S|RAPGEF3_uc001rqa.3_5'Flank|RAPGEF3_uc009zkr.2_Non-coding_Transcript|RAPGEF3_uc009zks.2_Missense_Mutation_p.P387S	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	333					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GGTCGGGAAGGGCCGGCGCCCT	0.599000														107			41		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33578885	33578885	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:33578885G>A	uc002xbi.2	+	23	2587	c.2270G>A	c.(2269-2271)gGg>gAg	p.G757E	MIR499B_uc021wch.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	715	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGCCGCCAAGGGTTCCCCAAC	0.652000														46			17		0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85952165	85952165	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:85952165G>A	uc002fjh.3	+	6	801	c.744G>A	c.(742-744)gaG>gaA	p.E248E		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	248					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AGGGCCTGGAGCTGGTGCGCT	0.731000														34			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9002672	9002672	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9002672G>A	uc002mkp.3	-	51	40347	c.40143_splice	c.e51-1	p.R13381_splice	MUC16_uc010dwi.3_Splice_Site|MUC16_uc010dwj.3_Splice_Site_p.R198_splice|MUC16_uc021uog.1_Splice_Site	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13383	SEA 9.				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						TCCTTCTCAGGCCTAGGGAGG	0.547000														60			18		0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40564524	40564524	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:40564524C>T	uc010bbl.3	+	5	1398	c.958C>T	c.(958-960)Cct>Tct	p.P320S	PAK6_uc010bbm.3_Missense_Mutation_p.P320S|PAK6_uc001zky.4_Missense_Mutation_p.P320S|PAK6_uc010bbn.3_Missense_Mutation_p.P320S|PAK6_uc001zlb.3_Missense_Mutation_p.P320S	NM_001128628	NP_064553	Q9NQU5	PAK6_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA.	320	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GACCTTCAGCCCTCTGACCAC	0.687000														102			51		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32996178	32996178	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:32996178G>A	uc001rlj.4	-	5	1563	c.1448C>T	c.(1447-1449)aCt>aTt	p.T483I	PKP2_uc001rlk.4_Intron|PKP2_uc010skj.2_Intron	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	483					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					gcctcccaaagtgctgggatt	0.512000														13			14		0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74275217	74275217	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:74275217C>T	uc002skb.4	+	0	1768	c.1768C>T	c.(1768-1770)Ccc>Tcc	p.P590S	TET3_uc010fez.2_Missense_Mutation_p.P590S	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	590							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTTGGGCTTCCCGGCCCCCC	0.592000														41			18		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52522557	52522557	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:52522557C>T	uc003ded.4	+	15	3183	c.3049C>T	c.(3049-3051)Ccc>Tcc	p.P1017S	NISCH_uc003dee.4_Missense_Mutation_p.P506S|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1017					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CGCCAAGACCCCCGGGACGGG	0.677000														38			19		0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473805	53473805	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:53473805G>A	uc002qan.4	-	3		c.696C>T								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		AGATGTGAATGAAAGCTTGAT	0.388000														104			38		0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49674630	49674630	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:49674630C>T	uc002pmw.3	+	6	921	c.813C>T	c.(811-813)atC>atT	p.I271I	TRPM4_uc010emu.3_Silent_p.I271I|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Silent_p.I97I|TRPM4_uc010emv.3_Silent_p.I156I|TRPM4_uc010yal.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	271					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GAATTGACATCCCTGTCCTGC	0.562000														59			15		0	0	1	0	0
MED14	9282	broad.mit.edu	37	X	40551483	40551483	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:40551483G>A	uc004dex.4	-	14	2072	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F		NM_004229	NP_004220	O60244	MED14_HUMAN	Homo sapiens mediator complex subunit 14 (MED14), mRNA.	644	Interaction with SREBF1.				androgen 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|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACATAGCGACGAAGTGGGCTA	0.378000														13			28		0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3118303	3118303	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:3118303C>T	uc011ask.2	-	10	1647	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	IL5RA_uc010hbq.3_Missense_Mutation_p.E240K|IL5RA_uc010hbr.3_Missense_Mutation_p.E126K|IL5RA_uc010hbs.3_Missense_Mutation_p.E335K|IL5RA_uc011asl.2_Missense_Mutation_p.E335K|IL5RA_uc010hbp.3_Missense_Mutation_p.E46K	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	335					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GGCTTGTGTTCATCATTTCCT	0.373000														51			8		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292591	33292591	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:33292591G>A	uc001wrq.3	+	12	5742	c.5572G>A	c.(5572-5574)Gaa>Aaa	p.E1858K		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1858					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACGTGTCTCTGAAAATAATGG	0.353000														68			36		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465424	77465424	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:77465424C>T	uc002ffc.4	-	2	682	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	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.	88					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						CTGCGCCGATCGCTTTTTCCT	0.483000														278			48		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167659303	167659303	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:167659303G>A	uc001gem.3	+	3	403	c.216G>A	c.(214-216)gcG>gcA	p.A72A	RCSD1_uc010pli.2_Silent_p.A42A	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	72										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CACCCAATGCGAGCCACCCTC	0.453000														109			36		0	0	1	0	0
KPNA6	23633	broad.mit.edu	37	1	32622504	32622504	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:32622504C>T	uc010ogy.2	+	2	231	c.204C>T	c.(202-204)ttC>ttT	p.F68F	KPNA6_uc001bug.3_Silent_p.F63F|KPNA6_uc001buh.3_5'UTR|KPNA6_uc010ogx.2_Silent_p.F60F	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	63					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTGCCATGTTCGATAGTCTTC	0.453000														81			30		0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50667441	50667441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:50667441C>T	uc002egg.2	+	9	1386	c.1162C>T	c.(1162-1164)Ccg>Tcg	p.P388S		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	388					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GGCTGCCAGCCCGGCCCTCCT	0.716000														22			4		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899021	112899021	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:112899021C>T	uc004bei.2	+	8	2085	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	PALM2-AKAP2_uc004bej.4_Silent_p.F399F|PALM2-AKAP2_uc004bek.4_Silent_p.F399F|PALM2-AKAP2_uc004bel.1_Silent_p.F209F|PALM2-AKAP2_uc011lwi.2_Silent_p.F257F|PALM2-AKAP2_uc004bem.3_Silent_p.F257F|PALM2-AKAP2_uc010mtw.1_Silent_p.F217F|PALM2-AKAP2_uc011lwj.2_Silent_p.F168F|PALM2-AKAP2_uc004ben.3_Silent_p.F168F	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	168							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ATGGAGAGTTCACTCTCACCA	0.577000														36			17		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101748012	101748012	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:101748012G>A	uc004azb.1	+	2	472	c.266G>A	c.(265-267)aGg>aAg	p.R89K		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	89	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ACCTTCTTCAGGGACTTCGCC	0.612000														57			11		0	0	1	0	0
DDB2	1643	broad.mit.edu	37	11	47256474	47256474	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:47256474C>T	uc001neb.2	+	5	1064	c.869C>T	c.(868-870)cCt>cTt	p.P290L	DDB2_uc001nec.2_Intron|DDB2_uc009yli.1_Missense_Mutation_p.P226L|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron	NM_000107	NP_000098	Q92466	DDB2_HUMAN	Homo sapiens damage-specific DNA binding protein 2, 48kDa (DDB2), mRNA.	290					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	p.P290S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						CACAGGCATCCTGTCAACGCA	0.562000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum					17			16		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26692881	26692881	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:26692881G>A	uc003acb.3	+	3	1193	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	SEZ6L_uc003acd.3_Missense_Mutation_p.E333K|SEZ6L_uc011akd.2_Missense_Mutation_p.E333K|SEZ6L_uc003ace.3_Missense_Mutation_p.E333K|SEZ6L_uc011akc.2_Missense_Mutation_p.E333K|SEZ6L_uc003acc.3_Missense_Mutation_p.E333K|SEZ6L_uc003acf.1_Missense_Mutation_p.E106K|SEZ6L_uc010gvc.1_Missense_Mutation_p.E106K	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	333	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GTCCGATGGGGAACTGCTCTC	0.582000														24			11		0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41476198	41476198	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:41476198G>A	uc010ucv.2	-	11	1922	c.1650C>T	c.(1648-1650)tcC>tcT	p.S550S	EXD1_uc001znj.3_Silent_p.S290S|EXD1_uc001znk.3_Silent_p.S492S	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	492					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						GAGGGAGTGTGGAAACCACAG	0.443000														93			35		0	0	1	0	0
FAIM2	23017	broad.mit.edu	37	12	50295006	50295006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:50295006C>T	uc001rvj.2	-	1	303	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	FAIM2_uc001rvi.2_5'UTR	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA.	40					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						GAGGTGGCTTCCTCATAGGAG	0.667000														45			12		0	0	1	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029269	41029269	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:41029269G>A	uc003opl.3	+	1	481	c.334G>A	c.(334-336)Gac>Aac	p.D112N	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.	112					DNA demethylation|mRNA processing		RNA binding|cytidine deaminase activity|zinc ion binding	p.D112N(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCAGCCTTCGACCCAGCCCT	0.572000														166			60		0	0	1	0	0
TOX4	9878	broad.mit.edu	37	14	21945658	21945658	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:21945658C>T	uc001waz.3	+	1	113	c.10C>T	c.(10-12)Ccc>Tcc	p.P4S	RAB2B_uc010tls.2_5'Flank|RAB2B_uc010tlt.2_5'Flank|RAB2B_uc010ain.3_5'Flank|RAB2B_uc001wax.3_5'Flank|TOX4_uc001way.3_5'UTR|TOX4_uc010tlu.2_Intron	NM_014828	NP_055643	O94842	TOX4_HUMAN	Homo sapiens TOX high mobility group box family member 4 (TOX4), mRNA.	4						PTW/PP1 phosphatase complex|chromatin|nucleus	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TTTCCAGTTTCCCGGAGGAAA	0.592000											OREG0022569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		131			37		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209200558	209200558	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:209200558C>T	uc002vcz.3	+	25	4456	c.4298C>T	c.(4297-4299)tCt>tTt	p.S1433F	PIKFYVE_uc002vcy.1_Missense_Mutation_p.S1377F	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	1433					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGACTTGCATCTTTGAAAACT	0.308000														86			7		0	0	1	0	0
GP6	51206	broad.mit.edu	37	19	55543725	55543725	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:55543725G>A	uc002qik.3	-	2	135	c.107C>T	c.(106-108)tCc>tTc	p.S36F	GP6_uc002qil.3_Missense_Mutation_p.S36F|GP6_uc010esq.3_Missense_Mutation_p.S36F|RDH13_uc010esr.1_Intron	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	Homo sapiens glycoprotein VI (platelet) (GP6), transcript variant 2, mRNA.	36	Ig-like C2-type 1.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GGGCACCAGGGAGCTGGGCAG	0.697000														24			7		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553997	140553997	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140553997C>T	uc003lit.3	+	0	1755	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	527	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A526S(1)|p.A526A(1)|p.A526E(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGCGTTCGAGTTCCGCG	0.701000														106			54		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56137167	56137167	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:56137167G>A	uc002xyn.4	+	2	428	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	89					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GGCCAGGATCGAAAGCAAGAC	0.557000														40			15		0	0	1	0	0
OFCC1	266553	broad.mit.edu	37	6	9933535	9933535	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:9933535G>A	uc003myh.1	-	1	68	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	OFCC1_uc010jog.1_5'UTR|OFCC1_uc021yli.1_Non-coding_Transcript|OFCC1_uc003myj.1_Nonsense_Mutation_p.Q7*|OFCC1_uc003myk.1_Non-coding_Transcript|OFCC1_uc003myn.3_Nonsense_Mutation_p.Q7*|OFCC1_uc010joi.1_Nonsense_Mutation_p.Q75*|OFCC1_uc010joh.1_Non-coding_Transcript|OFCC1_uc011dif.1_Nonsense_Mutation_p.Q7*|OFCC1_uc011dig.1_Nonsense_Mutation_p.Q7*					SubName: Full=Uncharacterized protein;											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				GCCTTCTGCTGAAACTTCTGG	0.363000														66			17		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47280923	47280923	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:47280923G>A	uc001cqn.4	+	7	1144	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N	CYP4B1_uc009vyl.1_Missense_Mutation_p.D190N|CYP4B1_uc001cqm.4_Missense_Mutation_p.D353N|CYP4B1_uc009vym.3_Missense_Mutation_p.D339N|CYP4B1_uc010omk.2_Missense_Mutation_p.D190N	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	353			F -> C (in dbSNP:rs17102592).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					AGGGGACCAGGACTTCTTCCA	0.582000														27			13		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111964021	111964021	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:111964021G>A	uc001eba.3	-	7	836	c.780C>T	c.(778-780)atC>atT	p.I260I	OVGP1_uc001eaz.3_Silent_p.I222I|OVGP1_uc010owb.2_Intron	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	260					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	p.G259R(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CATAGGTGGGGATCCCCATGA	0.512000														97			32		0	0	1	0	0
RTF1	23168	broad.mit.edu	37	15	41769408	41769408	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:41769408C>T	uc001zny.3	+	12	1618	c.1606C>T	c.(1606-1608)Caa>Taa	p.Q536*		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA.	536					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CAAACAAATCCAAGATCAACT	0.512000														179			47		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243668	56243668	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:56243668G>A	uc002qly.3	-	1	1557	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	510						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAAACCAAAGGAGGTCTCCAG	0.443000														108			47		0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138314867	138314867	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:138314867C>T	uc011kqh.2	-	9	790	c.790_splice	c.e9-1	p.E264_splice	SVOPL_uc003vue.3_Splice_Site_p.E112_splice	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	264						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CCTCTTTTTTCCTGGGGTAAT	0.388000														55			11		0	0	1	0	0
CD84	8832	broad.mit.edu	37	1	160520779	160520779	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:160520779C>T	uc001fwh.4	-	5	937	c.858G>A	c.(856-858)agG>agA	p.R286R	CD84_uc001fwf.4_Silent_p.R269R|CD84_uc009wtn.3_Intron|CD84_uc001fwi.4_Silent_p.R155R|CD84_uc001fwg.4_Silent_p.R280R	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	286					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GCTGGGTGTTCCTTGAAGCCA	0.443000														231			50		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6685006	6685006	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6685006G>A	uc002mfm.3	-	29	4024	c.3962C>T	c.(3961-3963)tCa>tTa	p.S1321L		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1321		Cleavage; by factor I.			G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TACCTCTTCTGATCGCAGGAG	0.597000														34			19		0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886538	57886538	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:57886538G>A	uc001nml.1	-	0	379	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R127H(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				AGTGGGTTGCGAATGGCAGCA	0.562000														56			12		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62019102	62019102	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:62019102C>T	uc002jds.1	-	23	4617	c.4540G>A	c.(4540-4542)Gat>Aat	p.D1514N		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1514					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.I1513I(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AACATATCATCGATGCCCGAC	0.547000														73			24		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178417660	178417660	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:178417660G>A	uc003mjr.3	-	3	1124	c.945C>T	c.(943-945)ccC>ccT	p.P315P	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	315					detection of visible light|visual perception	integral to plasma membrane		p.P315T(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGCTCAAGATGGGTGAGGTCT	0.667000														15			3		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71906323	71906323	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:71906323G>A	uc010fen.3	+	52	6162	c.6021G>A	c.(6019-6021)tgG>tgA	p.W2007*	DYSF_uc010fei.3_Nonsense_Mutation_p.W1985*|DYSF_uc010feh.3_Nonsense_Mutation_p.W1975*|DYSF_uc002sig.4_Nonsense_Mutation_p.W1954*|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Nonsense_Mutation_p.W1999*|DYSF_uc010fee.3_Nonsense_Mutation_p.W1989*|DYSF_uc010fef.3_Nonsense_Mutation_p.W2006*|DYSF_uc002sie.3_Nonsense_Mutation_p.W1968*|DYSF_uc010feo.3_Nonsense_Mutation_p.W2000*|DYSF_uc010fej.3_Nonsense_Mutation_p.W1976*|DYSF_uc010fel.3_Nonsense_Mutation_p.W1955*|DYSF_uc010fem.3_Nonsense_Mutation_p.W1990*|DYSF_uc002sif.3_Nonsense_Mutation_p.W1969*|DYSF_uc010fek.3_Nonsense_Mutation_p.W1986*|DYSF_uc010yqy.2_Nonsense_Mutation_p.W849*|DYSF_uc010yqz.2_Nonsense_Mutation_p.W729*	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1968						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGAAGGGCTGGTGGCCCTGTG	0.522000														48			15		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183696240	183696240	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:183696240G>A	uc003ivd.1	+	22	5313	c.5238G>A	c.(5236-5238)ttG>ttA	p.L1746L		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1746					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GTCAAAACTTGGTGGAATGGA	0.522000														61			25		0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9510422	9510422	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:9510422G>A	uc002wni.2	+	5	1293	c.798G>A	c.(796-798)caG>caA	p.Q266Q	LAMP5_uc010zrc.2_Silent_p.Q222Q	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	266						integral to membrane		p.Q266H(1)									CTGCCAACCAGGTGCAGATCC	0.547000														71			13		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86124798	86124798	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:86124798C>T	uc002blv.1	+	6	3669	c.3499C>T	c.(3499-3501)Cac>Tac	p.H1167Y	AKAP13_uc002blt.1_Missense_Mutation_p.H1167Y|AKAP13_uc002blu.1_Missense_Mutation_p.H1167Y|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1167					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGGAGCAGACCACAGCTGTAC	0.547000														55			46		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73043525	73043525	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:73043525C>T	uc004ebn.2	+	0		c.31486C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TTTTCCATCTCCTCAATCAGG	0.408000														87			42		0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71036137	71036137	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:71036137G>A	uc003xyn.1	-	20	4437	c.4275C>T	c.(4273-4275)tcC>tcT	p.S1425S	NCOA2_uc011lfb.1_Silent_p.S513S	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	1425					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GACCCATGGAGGACAGCCCTG	0.522000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									14			9		0	0	1	0	0
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48760118	48760118	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:48760118G>A	uc002xvf.3	-	1	323	c.162C>T	c.(160-162)ttC>ttT	p.F54F	TMEM189-UBE2V1_uc010zyq.1_Non-coding_Transcript|TMEM189-UBE2V1_uc002xvg.2_Silent_p.F54F|TMEM189-UBE2V1_uc010gif.2_Silent_p.F54F	NM_199203	NP_954673	A5PLL7	TM189_HUMAN	Homo sapiens TMEM189-UBE2V1 readthrough (TMEM189-UBE2V1), mRNA.	54						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			CGATGAGGCTGAAGCACAGGA	0.632000														14			11		0	0	1	0	0
SPACA3	124912	broad.mit.edu	37	17	31324017	31324017	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:31324017C>T	uc002hhs.1	+	2	575	c.500C>T	c.(499-501)tCa>tTa	p.S167L	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	167					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			ATGTACTGCTCAGGTAGCTGG	0.592000														44			28		0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27087520	27087520	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:27087520C>T	uc001bmv.1	+	4	2467	c.2094C>T	c.(2092-2094)tcC>tcT	p.S698S	ARID1A_uc001bmt.1_Silent_p.S698S|ARID1A_uc001bmu.1_Silent_p.S698S|ARID1A_uc001bmw.1_Silent_p.S315S	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	698					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTTCCCCGTCCCCTGTTGGCT	0.607000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									68			29		0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11964828	11964828	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:11964828C>T	uc010yjm.2	+	21	2892	c.2839C>T	c.(2839-2841)Ccc>Tcc	p.P947S	LPIN1_uc010yjn.2_Missense_Mutation_p.P862S|LPIN1_uc002rbt.3_Missense_Mutation_p.P862S|LPIN1_uc010yjo.2_Missense_Mutation_p.P363S	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	862					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TTCAGACTTTCCCTGTTCGGA	0.473000														62			32		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94668201	94668201	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:94668201G>A	uc001dqj.4	-	10	1411	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.R348C	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	348					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTTCTGCACGAAACATGGAA	0.408000														141			54		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10031943	10031943	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:10031943C>T	uc010uym.2	-	3	1190	c.880G>A	c.(880-882)Gac>Aac	p.D294N	GRIN2A_uc002czo.4_Missense_Mutation_p.D294N|GRIN2A_uc010uyn.2_Missense_Mutation_p.D137N|GRIN2A_uc002czr.4_Missense_Mutation_p.D294N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	294					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCAATGCCGTCCCTCACTCTC	0.572000														38			16		0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37388776	37388776	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:37388776C>T	uc003cgv.3	+	20	6925	c.6565C>T	c.(6565-6567)Cgt>Tgt	p.R2189C	GOLGA4_uc003cgw.3_Missense_Mutation_p.R2204C|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.R2070C	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	2189	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.G2188G(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TATGATGGGTCGTGAGACTAA	0.368000														96			11		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25264840	25264840	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:25264840T>A	uc010aaa.3	+	6	1113	c.780T>A	c.(778-780)taT>taA	p.Y260*	ATP12A_uc001upp.3_Nonsense_Mutation_p.Y260*	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	260					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCTGCTTCTATTCCACAACGT	0.547000														248			101		0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93090139	93090139	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:93090139C>T	uc003umv.2	-	9	1044	c.744G>A	c.(742-744)agG>agA	p.R248R	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Silent_p.R214R|CALCR_uc003umw.2_Silent_p.R214R	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	230					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TTACCGGGTCCCTTCGCACGA	0.383000														115			23		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58107029	58107029	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:58107029G>A	uc003djj.2	+	19	3090	c.2925G>A	c.(2923-2925)ggG>ggA	p.G975G	FLNB_uc010hne.2_Silent_p.G975G|FLNB_uc003djk.2_Silent_p.G975G|FLNB_uc010hnf.2_Silent_p.G975G|FLNB_uc003djl.2_Silent_p.G806G|FLNB_uc003djm.2_Silent_p.G806G	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	975					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.Q974H(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAGGCCAGGGGAAGCTGGACG	0.587000														110			46		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270553	1270553	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:1270553C>T	uc002cks.3	+	34	6869	c.6621C>T	c.(6619-6621)tcC>tcT	p.S2207S	CACNA1H_uc002ckt.3_Silent_p.S2201S|CACNA1H_uc002cku.3_Silent_p.S902S|CACNA1H_uc010brj.3_Silent_p.S918S|CACNA1H_uc002ckv.3_Silent_p.S896S	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2207					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)	CGCGGCCCTCCGCGGCAGAGG	0.716000														26			18		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7023190	7023190	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:7023190C>T	uc002knm.3	-	18	2768	c.2674G>A	c.(2674-2676)Gac>Aac	p.D892N	LAMA1_uc010wzj.2_Missense_Mutation_p.D368N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	892	Laminin EGF-like 8.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCACAGCGTCCCCATAGAAC	0.567000														22			10		0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134057256	134057256	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:134057256G>A	uc011ljd.2	-	4	655	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Silent_p.L153L|SLA_uc011lje.2_Silent_p.L170L|SLA_uc011ljf.2_Silent_p.L45L|SLA_uc011ljg.2_Intron	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	153						endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			AGGTCCTCCAGGCACTGGAAG	0.512000														50			18		0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945666	72945666	+	Silent	SNP	C	T	T	rs139591958	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:72945666C>T	uc021qna.1	+	0	462	c.462C>T	c.(460-462)gcC>gcT	p.A154A	P2RY2_uc001otk.3_Silent_p.A154A|P2RY2_uc001otj.3_Silent_p.A154A|P2RY2_uc001otl.3_Silent_p.A154A	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	154					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCCGGGTGGCCGGGGCCGTGT	0.716000														68			13		0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385791	33385791	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:33385791C>T	uc003zst.3	-	6	771	c.599G>A	c.(598-600)gGa>gAa	p.G200E	AQP7_uc003zsu.1_Missense_Mutation_p.G143E|AQP7_uc010mjs.2_Missense_Mutation_p.G108E|AQP7_uc010mjt.2_Missense_Mutation_p.G108E|AQP7_uc011lny.1_Missense_Mutation_p.G199E|AQP7_uc003zss.3_Missense_Mutation_p.G108E|AQP7_uc011lnz.1_Missense_Mutation_p.G108E|AQP7_uc011loa.1_Silent_p.R68R|AQP7_uc011lnx.1_Missense_Mutation_p.G200E	NM_001170	NP_001161	O14520	AQP7_HUMAN	Homo sapiens aquaporin 7 (AQP7), mRNA.	200					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CGCCTCTGTTCCTGGCAGTGC	0.617000														74			13		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95941690	95941690	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:95941690G>A	uc002suk.3	+	2	440	c.307G>A	c.(307-309)Gag>Aag	p.E103K	PROM2_uc002suh.2_Missense_Mutation_p.E103K|PROM2_uc002sui.3_Missense_Mutation_p.E103K|PROM2_uc002suj.3_5'UTR|PROM2_uc002sul.3_5'UTR	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	103						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGTGCGGTACGAGGCGGGCTA	0.687000														12			4		0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99851719	99851719	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:99851719G>A	uc003ppo.4	-	9	1370	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	PNISR_uc021zdd.1_5'Flank|PNISR_uc003ppp.4_Missense_Mutation_p.S381F|PNISR_uc011eag.2_Missense_Mutation_p.S381F	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.	381						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TCCAGTGAGGGAAGCCAGTGC	0.428000														23			10		0	0	1	0	0
OR7C1	26664	broad.mit.edu	37	19	14910370	14910370	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:14910370G>A	uc010xnz.2	-	0	579	c.579C>T	c.(577-579)ttC>ttT	p.F193F		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	193					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CGTTATTAATGAAGGTGTCAG	0.398000														148			14		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409573	130409573	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:130409573C>T	uc004ewe.4	-	15	3361	c.3078G>A	c.(3076-3078)ggG>ggA	p.G1026G	IGSF1_uc004ewd.3_Silent_p.G1021G|IGSF1_uc022cdv.1_Silent_p.G1012G|IGSF1_uc004ewf.2_Silent_p.G1001G	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1021	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGGGGAATGCCCCGTCATTAC	0.522000														42			10		0	0	1	0	0
CSDA	8531	broad.mit.edu	37	12	10856655	10856655	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:10856655G>A	uc001qyt.3	-	6	1116	c.873C>T	c.(871-873)taC>taT	p.Y291Y	CSDA_uc001qyu.3_Silent_p.Y222Y	NM_003651	NP_003642	P16989	DBPA_HUMAN	Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA.	291					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	19	Glioma(1;0.155)					CATACCTACGGTACCTTGGGC	0.478000														73			11		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515802	140515802	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:140515802C>T	uc003liq.3	+	0	1003	c.786C>T	c.(784-786)gtC>gtT	p.V262V		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	262	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTTAGTTGTCGTTGTCTCCG	0.453000														258			130		0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153314127	153314127	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:153314127G>A	uc001fbo.3	-	5	666	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	PGLYRP4_uc001fbp.3_Missense_Mutation_p.R197W	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	201					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTTCTGCCGAGGGGCCAGG	0.542000														114			39		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85985238	85985238	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:85985238G>T	uc010qmc.2	-	0	47	c.39C>A	c.(37-39)gtC>gtA	p.V13V	LRIT2_uc001kcy.3_Silent_p.V13V	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	13						integral to membrane		p.V13I(1)|p.V13A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TATCCAGAAAGACCAGAACTA	0.478000														34			13		3.27435e-08	3.28349e-08	1	1	0
KIF26A	26153	broad.mit.edu	37	14	104638985	104638985	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:104638985C>T	uc001yos.4	+	6	1400	c.1400C>T	c.(1399-1401)tCc>tTc	p.S467F		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	467	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGCATTTTTTCCTTTGGCCAC	0.632000														29			19		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7334968	7334968	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:7334968C>T	uc001mfe.3	+	2	1077	c.840C>T	c.(838-840)acC>acT	p.T280T	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	280	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ACAGAAAGACCCTGAACCCTG	0.438000														278			27		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71012625	71012625	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:71012625C>T	uc003pfg.4	-	0	162	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	1					axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGCAGGTCTTCATTTTCCCAG	0.502000														120			74		0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136062736	136062737	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:136062736_136062737GG>AC	uc003era.1	-	29	3675_3676	c.3383_3384CC>GT	c.(3382-3384)ccc>cGT	p.P1128R	STAG1_uc003erb.1_Missense_Mutation_p.P1128R	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	1128					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GGTCTCCCATGGGCCGACTGTT	0.465000														84			26		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61414214	61414215	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61414214_61414215GG>AA	uc010qig.1	-	4	1018_1019	c.569_570CC>TT	c.(568-570)ccc>cTT	p.P190L		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	190					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						AAGATTGGAGGGGTCTCATCAG	0.406000														112			43		0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30827849	30827849	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:30827849C>T	uc003cep.2	-	12	1347	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K		NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	434					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TCACTTACTTCCATCAGTAAC	0.299000														47			25		0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125599088	125599088	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:125599088C>T	uc001uhc.3	+	8	1187	c.981C>T	c.(979-981)ctC>ctT	p.L327L	AACS_uc001uhd.3_Silent_p.L327L|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	327					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GTGACATCCTCCTGTGCTACA	0.602000														31			8		0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37467050	37467050	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr22:37467050G>A	uc003aqt.1	-	13	1640	c.1578C>T	c.(1576-1578)acC>acT	p.T526T	TMPRSS6_uc003aqs.1_Silent_p.T535T	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	535	LDL-receptor class A 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACACTGGAAGGTGAATGTCC	0.637000														35			15		0	0	1	0	0
RHOU	58480	broad.mit.edu	37	1	228879409	228879409	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:228879409G>A	uc001htf.3	+	2	1365	c.699G>A	c.(697-699)aaG>aaA	p.K233K	RHOU_uc021pkj.1_Non-coding_Transcript	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	Homo sapiens ras homolog gene family, member U (RHOU), transcript variant 1, mRNA.	233					regulation of small GTPase mediated signal transduction	Golgi membrane|cell projection|cytosol|focal adhesion|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				AACAGCCAAAGAAGTCTAAAA	0.458000														88			31		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501775	90501775	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:90501775G>A	uc004app.4	+	3	2408	c.2373G>A	c.(2371-2373)atG>atA	p.M791I	FAM75E1_uc004apo.1_Missense_Mutation_p.M603I	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	791						integral to membrane											CCTGGCTCATGGCCAAATGTG	0.572000														57			12		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234106900	234106900	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:234106900C>T	uc010zmo.2	+	23	2919	c.2766C>T	c.(2764-2766)tcC>tcT	p.S922S	INPP5D_uc010zmp.2_Silent_p.S921S	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	951	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)		CCAAGGACTCCCCGCTGGGGC	0.647000														59			19		0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87557009	87557009	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:87557009C>T	uc003ydv.2	+	8	837	c.675C>T	c.(673-675)ctC>ctT	p.L225L	CPNE3_uc003ydw.1_5'Flank	NM_003909	NP_003900	O75131	CPNE3_HUMAN	Homo sapiens copine III (CPNE3), mRNA.	225	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CACATGATCTCATTGGAACAT	0.308000														104			48		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753547	13753547	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13753547G>A	uc003jfd.2	-	62	10709	c.10667C>T	c.(10666-10668)cCa>cTa	p.P3556L	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3556					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)					CTTTCCAAATGGAATTTTCCG	0.398000									Kartagener syndrome					116			44		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65239996	65239996	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:65239996G>A	uc001xht.3	-	23	5171	c.5120C>T	c.(5119-5121)tCa>tTa	p.S1707L	SPTB_uc001xhr.3_Missense_Mutation_p.S1707L|SPTB_uc001xhs.3_Missense_Mutation_p.S1707L|SPTB_uc001xhu.3_Missense_Mutation_p.S1707L|SPTB_uc010aqi.3_Missense_Mutation_p.S368L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1707					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCCTTTTCTGAAATCCACTG	0.547000														62			24		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933565	94933565	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:94933565C>T	uc001ydf.3	-	2	998	c.837G>A	c.(835-837)atG>atA	p.M279I	SERPINA9_uc001yde.3_Missense_Mutation_p.M179I|SERPINA9_uc010avc.3_Missense_Mutation_p.M130I|SERPINA9_uc001ydg.3_Missense_Mutation_p.M243I|SERPINA9_uc001ydh.1_Missense_Mutation_p.M279I|SERPINA9_uc001ydi.1_Missense_Mutation_p.M243I	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.	261					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)		CCTTGTAATCCATCTGCAGCA	0.537000														45			17		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102495982	102495982	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:102495982G>A	uc001phc.3	-	0	82	c.69C>T	c.(67-69)gcC>gcT	p.A23A		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	23					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CTAGGGAGGGGGCTGCAGTGG	0.532000														73			11		0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72423500	72423500	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:72423500G>A	uc001osu.3	-	5	1050	c.861C>T	c.(859-861)gcC>gcT	p.A287A	ARAP1_uc001osv.3_Silent_p.A287A|ARAP1_uc001osr.3_Silent_p.A47A|ARAP1_uc001oss.3_Silent_p.A42A|ARAP1_uc009yth.3_Silent_p.A42A|ARAP1_uc010rre.2_Silent_p.A42A	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	287					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CGCCCTCATAGGCGTGGTCAT	0.687000														86			58		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6181520	6181520	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:6181520G>A	uc001qnn.1	-	8	1336	c.1086C>T	c.(1084-1086)tcC>tcT	p.S362S	VWF_uc010set.1_Silent_p.S362S	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	362					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCGAGAGAGGGAGGTGCCGG	0.657000														44			20		0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22389807	22389807	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:22389807G>A	uc003gqm.1	-	18	3752	c.3487C>T	c.(3487-3489)Cga>Tga	p.R1163*	GPR125_uc010ieo.1_Nonsense_Mutation_p.R1019*|GPR125_uc003gql.1_Nonsense_Mutation_p.R290*	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	1163					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ACATTTGTTCGAAACTGAACT	0.448000														60			26		0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241815373	241815373	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:241815373C>T	uc002waa.4	+	7	919	c.798C>T	c.(796-798)gtC>gtT	p.V266V	AGXT_uc002wab.4_5'Flank	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	266					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAATCCCCGTCATCAGCCTGT	0.617000														43			4		0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46935494	46935494	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:46935494G>A	uc003cqm.3	+	3	376	c.173G>A	c.(172-174)aGg>aAg	p.R58K	PTH1R_uc021wxg.1_Missense_Mutation_p.R58K	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	58						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GTCCTGCAGAGGCCAGGTGGG	0.597000														31			5		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72520464	72520464	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:72520464C>T	uc001jrg.3	+	21	3536	c.3536C>T	c.(3535-3537)tCc>tTc	p.S1179F	ADAMTS14_uc001jrh.3_Missense_Mutation_p.S1176F	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	1176	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCTGGAGCATCCTGGAGCATC	0.632000														54			22		0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39542580	39542580	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:39542580G>A	uc001uwx.3	-	5	746	c.608C>T	c.(607-609)tCc>tTc	p.S203F	STOML3_uc010tez.2_Missense_Mutation_p.S194F	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	203						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)		GGCTGCCATGGATCTCTGCAA	0.557000														103			40		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21789388	21789388	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:21789388C>T	uc003svc.3	+	53	8818	c.8787C>T	c.(8785-8787)ttC>ttT	p.F2929F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2929	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATGAGAGCTTCCTCGTGCTGA	0.438000									Kartagener syndrome					45			20		0	0	1	0	0
OR4F17	81099	broad.mit.edu	37	19	110706	110706	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:110706C>T	uc002loc.1	+	0	28	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F	OR4F17_uc002lob.1_Missense_Mutation_p.L10F	NM_001005240	NP_001005240	Q8NGA8	O4F17_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 17 (OR4F17), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(2)	2		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)		TTTTCTGGGTCTCTCTGATTC	0.393000														507			69		0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124371873	124371873	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:124371873G>A	uc003yqh.4	-	9	1318	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*	ATAD2_uc011lii.2_Nonsense_Mutation_p.R195*|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Nonsense_Mutation_p.R404*	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATTTTCATTCGATCTTTATAA	0.353000														60			13		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110821999	110821999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:110821999C>T	uc001vqw.4	-	42	3975	c.3853G>A	c.(3853-3855)Gac>Aac	p.D1285N		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1285	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AATCCAGGGTCTCCCTTGGGC	0.498000														120			8		0	0	1	0	0
VSIG10	54621	broad.mit.edu	37	12	118511610	118511610	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:118511610G>A	uc001tws.3	-	4	1447	c.1113C>T	c.(1111-1113)acC>acT	p.T371T		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	371	Ig-like C2-type 4.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GGATAGTGAGGGTGGAGTTCT	0.587000														43			7		0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27789904	27789904	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:27789904C>T	uc002dow.3	+	27	4835	c.4811C>T	c.(4810-4812)cCc>cTc	p.P1604L	KIAA0556_uc010vco.2_Missense_Mutation_p.P106L	NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	1604								p.R1603H(1)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCCTTACGTCCCAAAACCTGC	0.597000														102			25		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580687	82580687	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82580687C>T	uc003uhx.2	-	5	9506	c.9217G>A	c.(9217-9219)Gga>Aga	p.G3073R	PCLO_uc003uhv.2_Missense_Mutation_p.G3073R|PCLO_uc010lec.3_Missense_Mutation_p.G38R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3004					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						TACTGGGGTCCTGGTGGTGGT	0.463000														8			5		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595399	82595399	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:82595399G>A	uc003uhx.2	-	3	3994	c.3705C>T	c.(3703-3705)ctC>ctT	p.L1235L	PCLO_uc003uhv.2_Silent_p.L1235L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1174					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						TTTCTTCTAGGAGTGGCTTTT	0.388000														281			94		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723410	58723410	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:58723410C>T	uc001nnh.2	+	6	962	c.912C>T	c.(910-912)tcC>tcT	p.S304S	GLYATL1_uc001nnf.3_Silent_p.S273S|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Silent_p.S273S|GLYATL1_uc001nnj.2_Silent_p.S273S	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	273						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	ATGAAGACTCCCGCAGATTTG	0.453000														77			21		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564372	176564372	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:176564372G>A	uc001gkz.3	+	2	2796	c.1632G>A	c.(1630-1632)gaG>gaA	p.E544E	PAPPA2_uc001gky.1_Silent_p.E544E|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	544	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGAGTGAGGAGCAGATTC	0.562000														39			10		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5860039	5860039	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:5860039G>A	uc001qnm.2	-	10	1213	c.1141C>T	c.(1141-1143)Ctt>Ttt	p.L381F		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	386						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CATCCATAAAGAAACACAATC	0.353000														21			10		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5036231	5036231	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:5036231G>A	uc002gau.1	+	12	2452	c.222G>A	c.(220-222)acG>acA	p.T74T	USP6_uc002gav.1_Silent_p.T74T|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.3_Silent_p.T135T|DQ594352_uc021toh.1_5'Flank|DQ586040_uc002gay.1_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	74					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGACACGAACGAGCAAGTGGA	0.527000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									179			19		0	0	1	0	0
ATP1B4	23439	broad.mit.edu	37	X	119500593	119500593	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:119500593C>T	uc004esr.3	+	1	361	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	ATP1B4_uc004esq.3_Silent_p.L93L|ATP1B4_uc011mtx.2_Intron|ATP1B4_uc011mty.2_Silent_p.L93L	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA.	93					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						GAGTGAATACCTGTGGGATCC	0.502000														13			20		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158224974	158224974	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:158224974G>A	uc001frt.3	+	1	692	c.159G>A	c.(157-159)caG>caA	p.Q53Q	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	53					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GTGATTTGCAGACTCATACCT	0.498000														78			20		0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113416991	113416991	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:113416991C>T	uc002tib.3	+	7	1798	c.1259C>T	c.(1258-1260)tCc>tTc	p.S420F	SLC20A1_uc002tic.1_Missense_Mutation_p.S232F	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	420					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGCTATACTTCCTATACCATG	0.463000														80			31		0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51464870	51464871	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:51464870_51464871CC>TT	uc001wyx.4	-	6	2265_2266	c.1500_1501GG>AA	c.(1498-1503)gtggat>gtAAat	p.D501N	TRIM9_uc001wyy.2_Missense_Mutation_p.D497N|TRIM9_uc001wyz.4_Missense_Mutation_p.D501N	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	501	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TGAAGACCATCCACAGTGCACA	0.550000														67			21		0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59423479	59423479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:59423479G>A	uc001noe.4	-	6	906	c.763C>T	c.(763-765)Cct>Tct	p.P255S	PATL1_uc009yms.1_Intron|PATL1_uc010rkw.2_Intron	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	255	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						AGAACAGGAGGAACACTAGGA	0.428000														13			5		0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68810254	68810254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:68810254C>T	uc003hdr.1	-	2	356	c.235G>A	c.(235-237)Gag>Aag	p.E79K	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.E79K	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	79	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCGGTCGTCTCTCGTAAGTCC	0.338000														111			45		0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151400307	151400307	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:151400307G>A	uc001eyd.2	-	6	1385	c.1070C>T	c.(1069-1071)tCa>tTa	p.S357L	POGZ_uc021oyq.1_Missense_Mutation_p.S304L|POGZ_uc010pdb.2_Missense_Mutation_p.S348L|POGZ_uc010pdc.2_Missense_Mutation_p.S295L|POGZ_uc009wmv.2_Missense_Mutation_p.S262L|POGZ_uc001eyf.2_Missense_Mutation_p.S304L|POGZ_uc010pdd.2_Intron|POGZ_uc001eyg.2_Missense_Mutation_p.S357L	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	357					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACCTTTCATTGAAGACTCAGG	0.448000														27			6		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133760622	133760622	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:133760622C>T	uc004bzw.3	+	10	2948	c.2945C>T	c.(2944-2946)cCc>cTc	p.P982L	ABL1_uc004bzv.3_Missense_Mutation_p.P1001L	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	982	F-actin-binding.|Pro-rich.			P -> PL (in Ref. 1; AAA51561).	DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GCCCCCGTTCCCTCCACGTTG	0.652000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									105			13		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21102957	21102957	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:21102957C>T	uc001iqi.3	-	22	2654	c.2257G>A	c.(2257-2259)Gac>Aac	p.D753N	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	753					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTTTATGGTCCTGGGTATAT	0.328000														64			15		0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149652720	149652720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149652720C>T	uc003lru.2	-	1	280	c.65G>A	c.(64-66)gGa>gAa	p.G22E	CAMK2A_uc003lrt.2_Missense_Mutation_p.G22E|CAMK2A_uc010jhe.2_Missense_Mutation_p.G22E	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	22	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAGAAGGCTCCCCTAGGAGG	0.567000														69			14		0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7254675	7254675	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7254675G>A	uc001qsn.3	-	2	402	c.309C>T	c.(307-309)ttC>ttT	p.F103F	C1RL_uc009zft.3_Silent_p.F103F|C1RL_uc001qso.2_Silent_p.F103F	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	103	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCGAACCGACGAATGAGATCT	0.607000														111			53		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6916364	6916364	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:6916364G>A	uc002mfw.3	+	11	1443	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	EMR1_uc010dvc.3_Missense_Mutation_p.E469K|EMR1_uc010dvb.3_Missense_Mutation_p.E417K|EMR1_uc010xji.2_Missense_Mutation_p.E328K|EMR1_uc010xjj.2_Missense_Mutation_p.E292K	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	469	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)					CACAATTGAGGAATCTGAATC	0.438000														111			38		0	0	1	0	0
KIAA1586	57691	broad.mit.edu	37	6	56918271	56918271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:56918271C>T	uc003pdj.3	+	3	1144	c.974C>T	c.(973-975)tCa>tTa	p.S325L	KIAA1586_uc011dxm.2_Missense_Mutation_p.S298L	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	Homo sapiens KIAA1586 (KIAA1586), mRNA.	325							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCTACAGTTTCAAAGAAAACC	0.338000														139			45		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833477	61833477	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:61833477C>T	uc001jky.3	-	36	7500	c.7162G>A	c.(7162-7164)Gaa>Aaa	p.E2388K	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.	2388					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						TGACCCTGTTCCTCTGAACAA	0.398000														32			79		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903019	5903019	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:5903019G>A	uc002wmg.3	+	3	535	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	CHGB_uc010zqz.2_Intron	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	77						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AACTGAAAATGAAAACACAAA	0.458000														68			29		0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7249425	7249425	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:7249425G>A	uc001qsn.3	-	5	1119	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L	C1RL_uc009zft.3_3'UTR	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	342	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCAGCTCCAGGAGGGCGATGT	0.602000														42			22		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46806723	46806723	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:46806723C>T	uc011dwh.1	+	12	2183	c.2175C>T	c.(2173-2175)atC>atT	p.I725I	MEP1A_uc010jzh.1_Silent_p.I697I|MEP1A_uc011dwg.1_Silent_p.I419I|MEP1A_uc011dwi.1_Silent_p.I597I	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	697					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCAGGTGCATCTCTGGACATG	0.572000														139			58		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18456703	18456703	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:18456703G>A	uc003cbh.3	-	4	2274	c.539C>T	c.(538-540)cCt>cTt	p.P180L	SATB1_uc003cbi.3_Missense_Mutation_p.P180L|SATB1_uc003cbj.3_Missense_Mutation_p.P180L	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	180	PDZ-like dimerization domain.				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						TTGTTCGGGAGGCAAGTCTTC	0.453000														54			27		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96909112	96909112	+	Missense_Mutation	SNP	G	A	A	rs112200493		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:96909112G>A	uc001yfn.2	+	6	780	c.736G>A	c.(736-738)Gga>Aga	p.G246R		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	246					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)		TTTTGGCGATGGAACAAATGT	0.423000														137			60		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159618524	159618524	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:159618524C>T	uc010kjv.3	+	1	371	c.171C>T	c.(169-171)gtC>gtT	p.V57V	FNDC1_uc010kjw.1_Silent_p.V5V	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	57	Fibronectin type-III 1.					extracellular region		p.V57D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCTGAAAGTCACGTGGGACC	0.453000														95			21		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881775	69881775	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:69881775G>A	uc001jnm.4	+	2	765	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	MYPN_uc001jnl.1_Missense_Mutation_p.E194K|MYPN_uc001jnn.4_Intron|MYPN_uc001jno.4_Missense_Mutation_p.E194K|MYPN_uc001jnp.1_Missense_Mutation_p.E194K|MYPN_uc009xps.3_Missense_Mutation_p.E194K|MYPN_uc009xpt.3_Missense_Mutation_p.E194K|MYPN_uc010qit.2_5'UTR|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	194	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGTTATGCAGGAAAACAGCTC	0.448000														74			21		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105833949	105833949	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:105833949C>T	uc001kxr.3	-	5	541	c.372G>A	c.(370-372)aaG>aaA	p.K124K	COL17A1_uc010qqv.1_Intron|COL17A1_uc009xxp.1_Silent_p.K124K	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	124	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.K124M(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TACCAAATTCCTTCCGAGGGT	0.488000														117			52		0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133389993	133389993	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:133389993G>A	uc001ukz.1	-	3	978	c.419C>T	c.(418-420)tCt>tTt	p.S140F	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.S140F|GOLGA3_uc001ulb.3_Missense_Mutation_p.S140F	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	140	Interaction with GOPC.	Cleavage; by caspase-3.			intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGGCAGGGGAGAATCTGTAGA	0.512000														19			15		0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108919251	108919251	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:108919251G>A	uc001tmz.1	-	16	2741	c.2506C>T	c.(2506-2508)Cgg>Tgg	p.R836W	SART3_uc001tmy.1_Missense_Mutation_p.R362W|SART3_uc009zux.1_Missense_Mutation_p.R448W|SART3_uc010swx.1_Missense_Mutation_p.R800W	NM_014706	NP_055521	Q15020	SART3_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells 3 (SART3), mRNA.	836	RRM 2.				RNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTGCCAGCCCGGTTGGTGACC	0.493000									Porokeratosis					46			23		0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582494	180582494	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:180582494C>T	uc011dhj.2	+	0	552	c.552C>T	c.(550-552)tcC>tcT	p.S184S		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATGCTATCCTTGTTGAAGC	0.463000														231			54		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8418949	8418949	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:8418949G>A	uc001ape.3	-	20	4456	c.3646C>T	c.(3646-3648)Cgc>Tgc	p.R1216C	RERE_uc001apf.3_Missense_Mutation_p.R1216C|RERE_uc001apd.3_Missense_Mutation_p.R662C	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1216					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1216C(2)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TCACTGAGGCGACCTTCATGC	0.642000														69			52		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13794146	13794146	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:13794146C>T	uc003jfd.2	-	47	7951	c.7909G>A	c.(7909-7911)Gat>Aat	p.D2637N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2637	AAA 3 (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)					ATTCGTTTATCCACATAGCTC	0.358000									Kartagener syndrome					52			16		0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2740316	2740316	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:2740316C>T	uc003smr.1	+	1	592	c.231C>T	c.(229-231)ttC>ttT	p.F77F	AMZ1_uc003sms.1_Silent_p.F77F|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	77							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCGAGGACTTCCAGACCTTCC	0.667000														109			28		0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44587924	44587924	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr20:44587924G>A	uc002xqw.3	-	14	2292	c.2169C>T	c.(2167-2169)ttC>ttT	p.F723F	ZNF335_uc010zxk.2_Silent_p.F568F	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	723					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCAGAGAGAAGAAGGGGCGAC	0.657000														79			5		0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85973846	85973846	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:85973846C>T	uc001kcv.3	+	16	2154	c.2049C>T	c.(2047-2049)tcC>tcT	p.S683S	CDHR1_uc001kcw.3_Intron|CDHR1_uc009xst.3_Silent_p.S387S|CDHR1_uc001kcx.3_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	683	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity	p.L682L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AGACCCTCTCCCGGAGCCCCA	0.582000														89			41		0	0	1	0	0
LIAS	11019	broad.mit.edu	37	4	39469178	39469178	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:39469178C>T	uc003guf.3	+	6	722	c.649C>T	c.(649-651)Cga>Tga	p.R217*	LIAS_uc003gug.3_Nonsense_Mutation_p.R217*	NM_006859	NP_006850	O43766	LIAS_HUMAN	Homo sapiens lipoic acid synthetase (LIAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	217					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	TCCTGATTTTCGAGGTGATCT	0.393000														98			47		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943624	9943624	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:9943624G>A	uc010uym.2	-	5	1627	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	GRIN2A_uc002czo.4_Silent_p.F439F|GRIN2A_uc010uyn.2_Silent_p.F282F|GRIN2A_uc002czr.4_Silent_p.F439F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	439					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGATTTTGACGAACTTCCGAC	0.502000														74			30		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42173354	42173354	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:42173354G>A	uc001zos.3	-	12	2764	c.2431C>T	c.(2431-2433)Cct>Tct	p.P811S		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	846					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCATCCCCAGGGCCAGGGTGG	0.602000														33			23		0	0	1	0	0
LOC729264	729264	broad.mit.edu	37	16	32264999	32264999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:32264999C>T	uc021tgy.1	+	0	350	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	LOC729264_uc002ecy.3_Non-coding_Transcript	NM_001243722	NP_001230651	Q9ULZ0	T53G3_HUMAN	Homo sapiens TP53-target gene 3 protein-like (LOC729264), mRNA.	109						cytoplasm|nucleus											AACAAAGGGTCGGTGGCCTCT	0.572000														100			20		0	0	1	0	0
HIATL1	84641	broad.mit.edu	37	9	97191504	97191504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:97191504C>T	uc004aur.3	+	2	507	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F	HIATL1_uc011luh.2_Missense_Mutation_p.L15F	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	Homo sapiens hippocampus abundant transcript-like 1 (HIATL1), mRNA.	80					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				ACACACATTCCTCATGAATGG	0.318000														23			9		0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47405691	47405691	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47405691G>A	uc003gxh.3	+	6	1172	c.798G>A	c.(796-798)tgG>tgA	p.W266*	GABRB1_uc011bze.2_Nonsense_Mutation_p.W196*	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	266					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGTCTTTTTGGATCAACTATG	0.383000														72			12		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142625942	142625942	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:142625942G>A	uc003wby.1	-	5	870	c.606C>T	c.(604-606)atC>atT	p.I202I	TRPV5_uc003wbz.3_Silent_p.I202I	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	202					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGAGGATGAGGATGTGTAATA	0.562000														113			27		0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60107264	60107264	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:60107264G>A	uc002izo.3	-	6	1197	c.1120C>T	c.(1120-1122)Cat>Tat	p.H374Y	MED13_uc002izp.3_5'UTR	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	374					androgen 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|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCACCACATGATTTGCTAAT	0.373000														101			20		0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71128715	71128715	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:71128715C>T	uc002ass.3	-	1	401	c.330G>A	c.(328-330)gaG>gaA	p.E110E		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	110	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AGGCGTCCTTCTCCAGGTTTT	0.483000														107			90		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851538	14851538	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:14851538C>T	uc010dlo.2	+	35	3418	c.3238C>T	c.(3238-3240)Ctc>Ttc	p.L1080F	ANKRD30B_uc021uhy.1_Missense_Mutation_p.L1080F|ANKRD30B_uc010xal.1_Missense_Mutation_p.L222F	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1165										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGAAAATGATCTCTTTCATGA	0.308000														13			9		0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68780337	68780337	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:68780337C>T	uc003hdr.1	-	8	1194	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.G355E	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	358	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TTCCATATATCCGGCACAGAA	0.368000														129			53		0	0	1	0	0
PLA2G2E	30814	broad.mit.edu	37	1	20249129	20249129	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:20249129G>A	uc001bct.1	-	1	218	c.160C>T	c.(160-162)Ccg>Tcg	p.P54S		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	Homo sapiens phospholipase A2, group IIE (PLA2G2E), mRNA.	54					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	p.P54S(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTCCACCGGCCAGTGGGAG	0.612000														89			6		0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75319244	75319244	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:75319244C>T	uc001owu.3	-	1	1094	c.1029G>A	c.(1027-1029)gaG>gaA	p.E343E	MAP6_uc001owv.3_Silent_p.E343E	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	343						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GCTTGCTGGCCTCTCCTTTGA	0.498000														99			10		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662102	99662102	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:99662102C>T	uc010nmz.3	-	0	3170	c.1494G>A	c.(1492-1494)cgG>cgA	p.R498R	PCDH19_uc004efw.4_Silent_p.R498R|PCDH19_uc004efx.4_Silent_p.R498R	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	498	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CAGGCATGTCCCGCACCTGCG	0.582000														54			8		0	0	1	0	0
TRIM16L	147166	broad.mit.edu	37	17	18638769	18638769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:18638769C>T	uc010cqg.1	+	6	1383	c.1349C>T	c.(1348-1350)cCc>cTc	p.P450L	TRIM16L_uc010vyf.1_Missense_Mutation_p.P402L|TRIM16L_uc002gug.1_Missense_Mutation_p.P348L|TRIM16L_uc002guh.1_Missense_Mutation_p.P348L|TRIM16L_uc002gui.1_Missense_Mutation_p.P348L|TRIM16L_uc010vyg.1_Missense_Mutation_p.P348L|TRIM16L_uc010vyh.1_3'UTR	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	Homo sapiens tripartite motif containing 16-like (TRIM16L), mRNA.	348						cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						GGGACTGCTCCCTAGACTCCA	0.522000														17			5		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151509257	151509257	+	Silent	SNP	G	A	A	rs146901365		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:151509257G>A	uc010ipj.3	-	40	6550	c.6306C>T	c.(6304-6306)tcC>tcT	p.S2102S	LRBA_uc003ilt.4_Silent_p.S750S|LRBA_uc003ilu.4_Silent_p.S2091S	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2102						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AATAGAGTTCGGAGGAGGTGA	0.468000														199			20		0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309077	248309077	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:248309077C>T	uc010pze.2	+	0	628	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F209F(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GATTGTTTTTCCTGTTGCAAT	0.418000														344			72		0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88910190	88910190	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:88910190G>A	uc001tav.3	-	4	636	c.441C>T	c.(439-441)tcC>tcT	p.S147S	KITLG_uc009zsn.3_Intron|KITLG_uc001taw.3_Silent_p.S147S|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	147					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						AGGCATCAATGGATCTATTAA	0.358000									Testicular Cancer, Familial Clustering of					73			22		0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27256866	27256866	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:27256866C>T	uc001uqv.3	+	8	1331	c.1106C>T	c.(1105-1107)cCc>cTc	p.P369L	WASF3_uc001uqw.3_Missense_Mutation_p.P366L	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	369					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCATGCAGCCCCCGTTCCCT	0.662000														126			8		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39247056	39247057	+	Missense_Mutation	DNP	CC	TT	TT	rs142566948		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:39247056_39247057CC>TT	uc003thb.2	+	4	491_492	c.348_349CC>TT	c.(346-351)gccctc>gcTTtc	p.L117F	POU6F2_uc022acb.1_Missense_Mutation_p.L117F|POU6F2_uc010kxo.3_Missense_Mutation_p.L109F	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	117					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCCCCCCAGCCCTCAACCAGCC	0.574000														157			58		0	0	1	0	0
MSMB	4477	broad.mit.edu	37	10	51562352	51562352	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:51562352G>A	uc001jiq.3	+	3	329	c.297G>A	c.(295-297)gaG>gaA	p.E99E	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|MSMB_uc001jir.3_Missense_Mutation_p.R64K|NCOA4_uc009xon.3_5'Flank|NCOA4_uc010qhd.2_5'Flank|NCOA4_uc001jis.4_5'Flank|NCOA4_uc010qhe.2_5'Flank|NCOA4_uc010qhf.2_5'Flank	NM_002443	NP_002434	P08118	MSMB_HUMAN	Homo sapiens microseminoprotein, beta- (MSMB), transcript variant PSP94, mRNA.	99						extracellular space|nucleus				lung(4)|ovary(2)|prostate(1)	7						TCGTGGTGGAGAAGAAGGACC	0.463000														130			59		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227907816	227907816	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:227907816G>A	uc021vxr.1	-	34	3475	c.3374C>T	c.(3373-3375)tCc>tTc	p.S1125F	COL4A4_uc021vxs.1_Missense_Mutation_p.S1125F	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1125	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGTCCAGAGGAGCCAGGTGG	0.532000														44			22		0	0	1	0	0
WSB1	26118	broad.mit.edu	37	17	25630396	25630396	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr17:25630396C>T	uc002gzd.1	+	2	529	c.213C>T	c.(211-213)ctC>ctT	p.L71L	WSB1_uc010vzy.1_Silent_p.L71L|WSB1_uc010vzz.1_Silent_p.L40L|WSB1_uc010crf.1_Intron|WSB1_uc002gze.1_Intron|WSB1_uc002gzf.1_Non-coding_Transcript	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	Homo sapiens WD repeat and SOCS box containing 1 (WSB1), transcript variant 1, mRNA.	71					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		ACTCCAGTCTCTTGCATGGCA	0.368000														65			44		0	0	1	0	0
FGF3	2248	broad.mit.edu	37	11	69625098	69625098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:69625098G>A	uc001oph.3	-	2	1186	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_005247	NP_005238	P11487	FGF3_HUMAN	Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.	232					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CTCCAGCTGGGAGCCCAGTCT	0.672000														11			4		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40357727	40357727	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:40357727C>T	uc002omp.4	-	33	15594	c.15586G>A	c.(15586-15588)Gag>Aag	p.E5196K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5196	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAACAGCGCTCGCTGCAGTCT	0.587000														38			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068061	9068061	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9068061C>T	uc002mkp.3	-	2	19589	c.19385G>A	c.(19384-19386)tGg>tAg	p.W6462*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6464	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						TGATGTGTCCCAGGTAAGGGT	0.483000														137			54		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458358	45458358	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:45458358G>A	uc001rol.3	-	0		c.837C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CTGCTGTTCAGGGTGGGGTCA	0.517000														24			11		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45303824	45303824	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:45303824C>T	uc003jok.3	-	5	1520	c.1495G>A	c.(1495-1497)Gga>Aga	p.G499R		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	499						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.G499L(2)|p.G499V(2)|p.G499R(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATATAATCTCCAGGTTGAAAC	0.408000														135			33		0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141955043	141955043	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr7:141955043G>A	uc003vxb.3	-	2	588	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	PRSS58_uc003vxc.4_Missense_Mutation_p.H90Y	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	90	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.H90L(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AAGTGTGGATGATGAATCATC	0.413000														104			34		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996466	140996466	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:140996466G>A	uc004fbt.3	+	3	3600	c.3276G>A	c.(3274-3276)aaG>aaA	p.K1092K	MAGEC1_uc010nsl.2_Silent_p.K159K|MAGEC1_uc022cfi.1_Silent_p.K751K	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1092	MAGE.						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)					CCATGCTAAAGAATACCGTCC	0.453000										HNSCC(15;0.026)				61			85		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29121164	29121164	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr18:29121164C>T	uc002kwu.4	+	12	2076	c.1888C>T	c.(1888-1890)Ctt>Ttt	p.L630F		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	630					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGTGGTACCACTTTTACTGCT	0.423000														74			25		0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230010	56230010	+	Silent	SNP	G	A	A	rs145474756	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:56230010G>A	uc010rjj.2	-	0	868	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TTATTTCTCAGACTGTAGATC	0.403000														96			37		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24373028	24373028	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:24373028G>A	uc002dmf.3	+	3	1994	c.792G>A	c.(790-792)atG>atA	p.M264I		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	264					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ACATCTCGATGTTCACCCTCT	0.587000														113			23		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	93225885	93225885	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:93225885C>T	uc011cdt.2	+	0	336	c.78C>T	c.(76-78)atC>atT	p.I26I	GRID2_uc010ikx.3_Silent_p.I26I|GRID2_uc011cdu.2_Silent_p.I26I	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	26					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.S25L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CGGATTCGATCATTCACATCG	0.502000														51			19		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575565	136575565	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:136575565C>T	uc002tuu.1	-	5	1064	c.1053G>A	c.(1051-1053)acG>acA	p.T351T		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	351	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGAGGAGTCCGTGGTCTCGT	0.542000														77			30		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46825081	46825081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:46825081G>A	uc002peh.3	+	9	1224	c.1193G>A	c.(1192-1194)aGc>aAc	p.S398N	HIF3A_uc002peg.4_Missense_Mutation_p.S398N|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.S342N|HIF3A_uc002pej.2_Missense_Mutation_p.S329N|HIF3A_uc010xxy.2_Missense_Mutation_p.S329N|HIF3A_uc002pel.3_Missense_Mutation_p.S396N|HIF3A_uc010xxz.2_Missense_Mutation_p.S347N	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCTTCCCTGAGCGAGGCTGCC	0.682000														93			21		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111570421	111570421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:111570421G>A	uc003kpv.1	-	11	1271	c.997C>T	c.(997-999)Ctt>Ttt	p.L333F		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	333						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)		TGAATAGAAAGATCTCGGCTC	0.443000														121			52		0	0	1	0	0
PLEKHA1	59338	broad.mit.edu	37	10	124189150	124189150	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:124189150C>T	uc001lge.2	+	11	1160	c.911C>T	c.(910-912)cCc>cTc	p.P304L	PLEKHA1_uc001lgf.2_3'UTR|PLEKHA1_uc001lgg.2_Missense_Mutation_p.P304L|PLEKHA1_uc021qae.1_5'Flank	NM_001001974	NP_067635	Q9HB21	PKHA1_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), transcript variant 2, mRNA.	304					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GAGCATCCCCCCGGTCCTTCA	0.507000														37			11		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111143688	111143688	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:111143688G>A	uc001vqx.3	+	37	3743	c.3454_splice	c.e37+1	p.G1152_splice		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1152	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGACAAACAGGTAAAATCTCC	0.542000														4			3		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230894	21230894	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21230894G>A	uc002red.3	-	25	8974	c.8846C>T	c.(8845-8847)aCc>aTc	p.T2949I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2949					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.F2948F(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)	TCCTTCTATGGTGAAACTAAT	0.448000														177			54		0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70516049	70516049	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:70516049C>T	uc001joo.3	+	13	1764	c.1645C>T	c.(1645-1647)Cgc>Tgc	p.R549C	CCAR1_uc001jol.1_Intron|CCAR1_uc001jom.1_Missense_Mutation_p.R354C|CCAR1_uc009xpx.1_Missense_Mutation_p.R523C|CCAR1_uc001jon.1_Missense_Mutation_p.R495C|CCAR1_uc010qiz.1_Missense_Mutation_p.R534C|CCAR1_uc010qja.1_Missense_Mutation_p.R534C|CCAR1_uc010qjb.2_Intron	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	549					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	p.I548N(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TGCAGAGATTCGCTACCATCG	0.453000														57			31		0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104571689	104571689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:104571689G>A	uc001yop.2	+	9	1160	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ASPG_uc001yoo.2_Missense_Mutation_p.E387K|ASPG_uc001yoq.2_Missense_Mutation_p.E359K|ASPG_uc001yor.2_Missense_Mutation_p.E359K	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	359					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	p.E359fs*2(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CCTTCGGGGGGAGATGACGCC	0.677000														32			5		0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117120290	117120290	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:117120290G>A	uc004biq.3	-	10	2785	c.2650C>T	c.(2650-2652)Caa>Taa	p.Q884*	AKNA_uc004bin.3_Nonsense_Mutation_p.Q131*|AKNA_uc004bio.3_Nonsense_Mutation_p.Q344*|AKNA_uc004bip.3_Nonsense_Mutation_p.Q803*|AKNA_uc004bir.3_Nonsense_Mutation_p.Q884*|AKNA_uc004bis.3_Nonsense_Mutation_p.Q884*|AKNA_uc010mve.2_Nonsense_Mutation_p.Q765*	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						ATACTACTTTGGTGGGATGCT	0.647000														57			19		0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57843461	57843461	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:57843461G>A	uc001snv.1	+	1	842	c.715G>A	c.(715-717)Gac>Aac	p.D239N		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	239					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						ACGAGGCATCGACTGCCAAGG	0.587000														26			15		0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71152304	71152304	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:71152304C>T	uc001oqk.3	-	5	845	c.595G>A	c.(595-597)Ggc>Agc	p.G199S	DHCR7_uc001oql.3_Missense_Mutation_p.G199S	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	199					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	AAGAAGTAGCCCTTGACCATG	0.567000									Smith-Lemli-Opitz syndrome					63			21		0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110788861	110788861	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:110788861C>T	uc003hzx.4	+	1	712	c.519C>T	c.(517-519)gtC>gtT	p.V173V	LRIT3_uc003hzw.4_Silent_p.V35V	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	173	LRRCT.					integral to membrane		p.D173H(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TGTCAAAGGTCGTTGACCCTG	0.443000														78			26		0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9983625	9983625	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:9983625T>C	uc001mib.2	-	15	1877	c.1739A>G	c.(1738-1740)aAa>aGa	p.K580R	SBF2_uc001mif.3_Missense_Mutation_p.K336R|SBF2_uc001mih.4_Missense_Mutation_p.K109R	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	580					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TGCCTTTCCTTTAAGGGCTCT	0.448000														62			28		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21236046	21236046	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:21236046G>A	uc002red.3	-	24	4330	c.4202C>T	c.(4201-4203)tCc>tTc	p.S1401F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1401					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACATTGTAGGAAAGCAGGTC	0.547000														107			51		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19746500	19746500	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:19746500G>A	uc002nnd.3	-	13	1475	c.1358C>T	c.(1357-1359)tCg>tTg	p.S453L	GMIP_uc010xrb.2_Intron|GMIP_uc010xrc.2_Intron	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	453					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCCTGTGGACGAAGCCTTCAC	0.597000														159			33		0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149753822	149753822	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:149753822C>T	uc003lry.3	+	7	1064	c.956C>T	c.(955-957)cCc>cTc	p.P319L	TCOF1_uc003lrw.3_Missense_Mutation_p.P319L|TCOF1_uc003lrz.3_Missense_Mutation_p.P319L|TCOF1_uc011dch.2_Missense_Mutation_p.P319L|TCOF1_uc003lrx.3_Missense_Mutation_p.P242L|TCOF1_uc003lsa.3_Missense_Mutation_p.P242L|TCOF1_uc011dci.1_5'Flank	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	319					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCCAGCACCCCCTGGGAAG	0.597000														13			4		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167056366	167056366	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:167056366G>A	uc010fpl.3	-	26	5091	c.4750C>T	c.(4750-4752)Cta>Tta	p.L1584L	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1595						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAATCAGCTAGAAACATACCT	0.378000														87			34		0	0	1	0	0
ANKRD26P3	100101938	broad.mit.edu	37	13	19868746	19868746	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr13:19868746C>T	uc010tck.2	-	12		c.1882G>A								Homo sapiens ankyrin repeat domain 26 pseudogene 3 (ANKRD26P3), non-coding RNA.																		GTCAGAATTTCATCTTGTAAT	0.373000														19			7		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165867	172165867	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:172165867C>T	uc003fib.2	-	0	380	c.337G>A	c.(337-339)Gac>Aac	p.D113N	GHSR_uc011bpv.2_Missense_Mutation_p.D113N	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	113					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAGAGGAGGTCGCCGAAGTTC	0.602000														33			13		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975383	20975383	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr16:20975383C>T	uc010vbe.2	-	52	9823	c.9823G>A	c.(9823-9825)Gag>Aag	p.E3275K	DNAH3_uc010vbd.2_Missense_Mutation_p.E710K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3275	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCTGTTTCTCTGAGATCTCT	0.478000														132			48		0	0	1	0	0
IGJ	3512	broad.mit.edu	37	4	71527857	71527857	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:71527857G>A	uc010ihz.3	-	2	329	c.188C>T	c.(187-189)tCt>tTt	p.S63F	IGJ_uc003hfn.4_Missense_Mutation_p.S47F	NM_144646	NP_653247	P01591	IGJ_HUMAN	Homo sapiens immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides (IGJ), mRNA.	47					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			ATCTTCGGAAGAACGGATGAT	0.388000														104			20		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469264	10469264	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:10469264C>T	uc003wtc.3	-	3	2573	c.2344G>A	c.(2344-2346)Gac>Aac	p.D782N		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	782					intracellular signal transduction			p.S781S(3)		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)		GAGCAGGAGTCGGATGTGTGG	0.667000														83			13		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231112699	231112699	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr2:231112699G>A	uc002vql.3	+	7	926	c.811G>A	c.(811-813)Gag>Aag	p.E271K	SP140_uc010zma.1_Intron|SP140_uc002vqk.2_Missense_Mutation_p.E271K|SP140_uc002vqn.3_Intron|SP140_uc002vqm.3_Missense_Mutation_p.E245K|SP140_uc010fxl.3_Missense_Mutation_p.E271K	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	271					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAACAGGGAGAGGAGGAAGG	0.488000														121			23		0	0	1	0	0
LCN12	286256	broad.mit.edu	37	9	139847361	139847361	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139847361C>T	uc004ckc.3	+	1	140	c.132C>T	c.(130-132)ttC>ttT	p.F44F	LCN12_uc022bpx.1_Silent_p.F44F|LCN12_uc004ckb.3_Silent_p.F44F			Q6JVE5	LCN12_HUMAN	Homo sapiens lipocalin 12 (LCN12), mRNA.	44					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGGAATGGTTCGTCCTGGGCC	0.672000														130			61		0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47692738	47692738	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:47692738G>A	uc002zir.1	-	7	2238	c.2202C>T	c.(2200-2202)atC>atT	p.I734I		NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	734					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GCTGCTGCGTGATATCCTGGC	0.547000														56			27		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113146034	113146034	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:113146034G>A	uc021qqp.1	+	19	2940	c.2568G>A	c.(2566-2568)acG>acA	p.T856T	NCAM1_uc001pnq.3_Silent_p.T830T|NCAM1_uc001pnr.3_Silent_p.T820T|NCAM1_uc001pns.3_3'UTR|LOC100288346_uc021qqr.1_5'Flank|NCAM1_uc001pnt.3_Silent_p.T69T	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	834				S -> N (in Ref. 6; AAH47244).	axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGACAGAAACGAAGCCAGCGC	0.547000														26			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062169	9062169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9062169C>T	uc002mkp.3	-	2	25481	c.25277G>A	c.(25276-25278)aGg>aAg	p.R8426K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8428	Ser-rich.|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						TGAGCTGATCCTCTCAGAGCT	0.507000														70			39		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40945418	40945418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:40945418C>T	uc003jmh.3	+	6	800	c.686C>T	c.(685-687)tCa>tTa	p.S229L	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	229	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGATCTTCATCATCTTCTTCA	0.313000														25			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047864	9047864	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:9047864G>A	uc002mkp.3	-	4	33971	c.33767C>T	c.(33766-33768)tCc>tTc	p.S11256F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11258	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						CTCACCAGTGGAGACAGTCAA	0.468000														22			3		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057714	63057714	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:63057714C>T	uc009yor.3	+	0	285	c.77C>T	c.(76-78)cCc>cTc	p.P26L	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Intron|SLC22A10_uc010rmp.1_5'Flank	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	26						integral to membrane	transmembrane transporter activity	p.P26P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTATTCTTCCCTCTCTCATG	0.458000														49			26		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145442113	145442113	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr5:145442113C>T	uc003lnt.3	+	9	2277	c.2039C>T	c.(2038-2040)tCc>tTc	p.S680F	SH3RF2_uc011dbl.1_Missense_Mutation_p.S680F|SH3RF2_uc003lnu.3_Missense_Mutation_p.S171F|SH3RF2_uc011dbn.1_Missense_Mutation_p.S171F|SH3RF2_uc011dbo.2_Missense_Mutation_p.S137F	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	680							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)			GAAGCAGCGTCCTTGGGCCCA	0.597000														78			8		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34102044	34102044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:34102044C>T	uc001bxm.1	-	29	5062	c.4885G>A	c.(4885-4887)Gaa>Aaa	p.E1629K	CSMD2_uc001bxn.1_Missense_Mutation_p.E1589K|CSMD2_uc001bxo.1_Missense_Mutation_p.E502K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1589	CUB 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCTCAACTTCGTAGCCCCCG	0.622000														29			12		0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79629625	79629625	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr8:79629625C>T	uc003ybd.3	+	8	977	c.875C>T	c.(874-876)tCa>tTa	p.S292L		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	Homo sapiens family with sequence similarity 164, member A (FAM164A), mRNA.	292																	GAAGGACATTCACCTGGAAAC	0.383000														123			47		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717018	142717018	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:142717018A>G	uc022cfm.1	-	0	1907	c.1907T>C	c.(1906-1908)tTt>tCt	p.F636S	SLITRK4_uc022cfl.1_Missense_Mutation_p.F636S|SLITRK4_uc004fbx.3_Missense_Mutation_p.F636S|SLITRK4_uc004fby.3_Missense_Mutation_p.F636S	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	636						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAAGGCAAAAAGCAACAAA	0.493000														34			40		0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100504621	100504621	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:100504621G>A	uc011cej.2	+	2	434	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	MTTP_uc003hvc.4_Missense_Mutation_p.E114K|MTTP_uc003hvb.3_Missense_Mutation_p.E114K	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	114	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AATGGGAAAGGAAAACTTGGA	0.393000														100			39		0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47938716	47938716	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr4:47938716C>T	uc003gxu.3	-	9	2143	c.2002G>A	c.(2002-2004)Ggg>Agg	p.G668R	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.G599R	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	599					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						ATCTGCTTCCCTTTCTCTTCC	0.418000														197			64		0	0	1	0	0
POTEB	339010	broad.mit.edu	37	15	22062320	22062320	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:22062320G>A	uc010tzr.1	-	10	1661	c.1294C>T	c.(1294-1296)Cac>Tac	p.H432Y	POTEB_uc010tzq.1_Non-coding_Transcript	NM_207355	NP_997238	Q6S5H4	POTEB_HUMAN	Homo sapiens POTE ankyrin domain family, member B (POTEB), mRNA.	469										endometrium(2)|kidney(8)|lung(4)	14						GCTCACCTGTGATACTCTTCA	0.373000														32			36		0	0	1	0	0
SMAD6	4091	broad.mit.edu	37	15	67073803	67073803	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:67073803C>T	uc002aqf.3	+	3	2344	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L	SMAD6_uc010bhx.3_Non-coding_Transcript|SMAD6_uc002aqg.3_Missense_Mutation_p.P213L	NM_005585	NP_005576	O43541	SMAD6_HUMAN	Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1, mRNA.	474	MH2.				BMP signaling pathway|immune response|negative regulation of BMP signaling pathway|negative regulation of SMAD protein complex assembly|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	I-SMAD binding|R-SMAD binding|co-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						GGCTGGGGGCCCTGCTACTCC	0.716000														32			7		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14823176	14823176	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:14823176C>T	uc003zlm.3	-	13	3135	c.2319G>A	c.(2317-2319)gtG>gtA	p.V773V	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	773					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTGATTGTCCACTGGGAGGA	0.413000														56			7		0	0	1	0	0
ASB11	140456	broad.mit.edu	37	X	15307707	15307707	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chrX:15307707C>T	uc004cwp.2	-	4	593	c.574G>A	c.(574-576)Gag>Aag	p.E192K	ASB11_uc004cwo.2_Missense_Mutation_p.E171K|ASB11_uc010net.2_Missense_Mutation_p.E175K|ASB11_uc010nes.2_Non-coding_Transcript	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 11 (ASB11), transcript variant 1, mRNA.	192					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					TGAGGCACCTCATGGTCAATG	0.433000														74			100		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31743776	31743776	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr6:31743776G>A	uc011dog.2	-	2	716	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	VWA7_uc003nxd.2_Intron|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	160						extracellular region											AGGCGCTGGCGAGCCAGGGTG	0.667000														116			61		0	0	1	0	0
WHAMM	123720	broad.mit.edu	37	15	83499448	83499448	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83499448C>T	uc002bje.3	+	8	2245	c.1739C>T	c.(1738-1740)tCc>tTc	p.S580F		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules (WHAMM), mRNA.	580						ER-Golgi intermediate compartment|Golgi apparatus|cytoplasmic vesicle membrane	actin binding			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						TTGCCAGCTTCCCACGCGGTG	0.512000														197			16		0	0	1	0	0
ZFYVE27	118813	broad.mit.edu	37	10	99512938	99512938	+	Splice_Site	SNP	C	T	T	rs149770775		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:99512938C>T	uc001kol.2	+	10	1248	c.1042_splice	c.e10+1	p.G348_splice	ZFYVE27_uc001kok.2_Splice_Site|ZFYVE27_uc010qpc.2_Splice_Site|ZFYVE27_uc001kom.2_Splice_Site_p.G341_splice|ZFYVE27_uc010qpb.2_Splice_Site_p.G248_splice|ZFYVE27_uc010qpd.2_Splice_Site_p.G309_splice|ZFYVE27_uc001koq.3_Splice_Site_p.G255_splice|ZFYVE27_uc010qpa.2_Splice_Site_p.G223_splice|ZFYVE27_uc021pwq.1_Splice_Site_p.G353_splice	NM_144588	NP_653189	Q5T4F4	ZFY27_HUMAN	Homo sapiens zinc finger, FYVE domain containing 27 (ZFYVE27), transcript variant 2, mRNA.	348					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CCAACAACTTCGGTGCGGCCA	0.647000														12			6		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189586379	189586379	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:189586379C>T	uc003fry.2	+	7	1092	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L	TP63_uc003frx.2_Silent_p.L335L|TP63_uc003frz.2_Silent_p.L335L|TP63_uc010hzc.1_Silent_p.L335L|TP63_uc003fsa.2_Silent_p.L241L|TP63_uc003fsb.2_Silent_p.L241L|TP63_uc003fsc.2_Silent_p.L241L|TP63_uc003fsd.2_Silent_p.L241L|TP63_uc021xir.1_Silent_p.L241L|TP63_uc010hzd.1_Silent_p.L156L|TP63_uc003fse.1_Silent_p.L216L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	335					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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGGGCAAGTCCTGGGCCGACG	0.488000										HNSCC(45;0.13)				58			21		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703934	4703934	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4703934G>A	uc001lzk.2	-	1	252	c.8C>T	c.(7-9)tCc>tTc	p.S3F	OR51E2_uc021qcr.1_Missense_Mutation_p.S3F	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S3S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAAGTTGCAGGAACTCATAGC	0.507000														31			17		0	0	1	0	0
LOC285501	285501	broad.mit.edu	37	4	178881973	178881973	+	RNA	SNP	C	T	T	rs148169804	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:178881973C>T	uc010iru.3	+	2		c.432C>T								Homo sapiens uncharacterized LOC285501 (LOC285501), non-coding RNA.														all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236)		all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884)		AAATATATTTCTTTCCGGGGA	0.348000														62			34		0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70968663	70968663	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:70968663C>T	uc001jpe.1	+	14	2288	c.2233C>T	c.(2233-2235)Cca>Tca	p.P745S	SUPV3L1_uc010qjd.1_Missense_Mutation_p.P614S	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA.	745	Interaction with HBXIP, important for protein stability.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	p.P745A(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACTCCTCACTCCAGACATGCT	0.502000														50			17		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57938654	57938654	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:57938654G>A	uc002emt.2	-	25	2683	c.2618C>T	c.(2617-2619)tCt>tTt	p.S873F	CNGB1_uc010cdh.2_Missense_Mutation_p.S867F	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	873					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GATCATCACAGAGAAAGCAAA	0.572000														150			17		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228469732	228469732	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228469732G>A	uc009xez.1	+	30	8340	c.8296G>A	c.(8296-8298)Gac>Aac	p.D2766N	OBSCN_uc001hsn.3_Missense_Mutation_p.D2766N|OBSCN_uc001hsp.1_Missense_Mutation_p.D465N|OBSCN_uc001hsq.1_Missense_Mutation_p.D22N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2766	Ig-like 27.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGTGCCAGCGACCCGGCCAT	0.617000														25			18		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115453026	115453026	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:115453026G>A	uc001efr.3	+	16	1538	c.1329G>A	c.(1327-1329)aaG>aaA	p.K443K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.K443K|SYCP1_uc009wgw.3_Silent_p.K443K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	443					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)		AGGGAGAAAAGGAAACACTTT	0.338000														81			12		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37670821	37670821	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:37670821G>A	uc003chd.3	+	15	1886	c.1833G>A	c.(1831-1833)aaG>aaA	p.K611K	ITGA9_uc003chc.3_Silent_p.K611K	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	611					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TTGCCCAAAAGAATCAGGTCA	0.532000														24			8		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216243581	216243581	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:216243581T>C	uc001hku.1	-	29	6298	c.5911A>G	c.(5911-5913)Att>Gtt	p.I1971V		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1971	Fibronectin type-III 6.				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)		GTCACCTCAATGCTGTATCCA	0.478000										HNSCC(13;0.011)				52			26		0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161954026	161954026	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161954026G>A	uc010pkq.2	-	7	2119	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	OLFML2B_uc001gbt.3_Silent_p.I47I|OLFML2B_uc001gbu.3_Silent_p.I564I	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	564	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGCCTGTGCCGATCCAGCTGT	0.582000														73			19		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614674	3614674	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3614674G>A	uc010btn.3	-	4	675	c.264C>T	c.(262-264)gcC>gcT	p.A88A		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	88					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGGAGGGAGGCCAGCCTGT	0.706000														16			4		0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104192174	104192174	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104192174G>A	uc004bbk.2	-	2	269	c.187C>T	c.(187-189)Ctc>Ttc	p.L63F		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	63					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ACAGAGAAGAGGATTTCTCGG	0.552000														103			54		0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48884612	48884612	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48884612G>A	uc001rrr.3	+	5	317	c.186G>A	c.(184-186)cgG>cgA	p.R62R	C12orf54_uc009zky.1_Non-coding_Transcript	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA.	62										endometrium(1)|large_intestine(4)	5						AAGATGCTCGGATTCGAGGTA	0.433000														105			51		0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49898976	49898976	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49898976C>T	uc003cxt.1	-	4	530	c.337G>A	c.(337-339)Gac>Aac	p.D113N	CAMKV_uc011bcy.1_Missense_Mutation_p.D38N|CAMKV_uc003cxv.1_Missense_Mutation_p.D113N|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Missense_Mutation_p.D113N|CAMKV_uc011bcz.1_Missense_Mutation_p.D76N|CAMKV_uc011bda.1_Intron|CAMKV_uc011bdb.1_Intron	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	113	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TAGCCCTGGTCCAGGATCCAG	0.612000														60			20		0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231775112	231775112	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:231775112C>T	uc021vxz.1	-	0	566	c.566G>A	c.(565-567)gGc>gAc	p.G189D	GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Missense_Mutation_p.G189D|GPR55_uc010fxs.1_Missense_Mutation_p.G189D	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA.	189					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AAGGAGGAAGCCAAACACCTC	0.547000														121			31		0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39377166	39377166	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:39377166G>A	uc003jlx.3	-	11	2254	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S	DAB2_uc003jlw.3_Missense_Mutation_p.P554S	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	575					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GATGCAGAAGGGCCCCAGACA	0.532000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			29		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913368	6913368	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6913368G>A	uc010rau.2	-	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCAACATAGCGATCATAGGAC	0.483000														32			51		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179476172	179476172	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179476172C>T	uc021vsy.1	-	217	43305	c.43080G>A	c.(43078-43080)gtG>gtA	p.V14360V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V8055V|TTN_uc021vta.1_Silent_p.V7988V|TTN_uc021vtb.1_Silent_p.V7863V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15287							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K14359E(1)		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)			TGACTGCTCTCACTCTCAGGA	0.418000														88			18		0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49146461	49146461	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49146461G>A	uc003cwd.2	-	25	4206	c.3887C>T	c.(3886-3888)aCc>aTc	p.T1296I	USP19_uc003cwa.3_Intron|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Intron|USP19_uc011bcg.2_Intron|USP19_uc003cwc.2_Missense_Mutation_p.T1054I|USP19_uc011bch.2_Missense_Mutation_p.T1397I	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	1296					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCCGCCACGGTGCCCAGGAC	0.662000														17			4		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123457790	123457790	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:123457790G>A	uc003ego.3	-	6	824	c.542C>T	c.(541-543)tCc>tTc	p.S181F	MYLK_uc011bjw.2_Missense_Mutation_p.S181F|MYLK_uc003egp.3_Missense_Mutation_p.S181F|MYLK_uc003egq.3_Missense_Mutation_p.S181F|MYLK_uc003egr.3_Missense_Mutation_p.S181F|MYLK_uc003egs.3_Missense_Mutation_p.S5F|MYLK_uc010hrs.1_Missense_Mutation_p.S181F	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	181	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GATCTTGCAGGAGAATCGTCC	0.572000														27			7		0	0	1	0	0
FOLR1	2348	broad.mit.edu	37	11	71903228	71903228	+	Missense_Mutation	SNP	G	A	A	rs145380453		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:71903228G>A	uc001orz.2	+	2	287	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	FOLR1_uc001osa.2_Missense_Mutation_p.R4Q|FOLR1_uc001osb.2_Missense_Mutation_p.R4Q|FOLR1_uc001osd.2_Missense_Mutation_p.R4Q	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	4					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						ATGGCTCAGCGGATGACAACA	0.577000														69			25		0	0	1	0	0
SERPINF2	5345	broad.mit.edu	37	17	1655922	1655922	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:1655922C>T	uc002ftk.1	+	8	978	c.901C>T	c.(901-903)Ctt>Ttt	p.L301F	SERPINF2_uc010vqr.1_Missense_Mutation_p.L237F|SERPINF2_uc021tnm.1_Missense_Mutation_p.L301F	NM_000934	NP_001159392	P08697	A2AP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA.	301					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	CTTTGTGGTCCTTGTACCCAC	0.547000														79			6		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50596572	50596572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50596572C>T	uc003bjj.3	+	22	3236	c.3153C>T	c.(3151-3153)gcC>gcT	p.A1051A	MOV10L1_uc003bjk.4_Silent_p.A1051A|MOV10L1_uc011arp.2_Silent_p.A1031A|MOV10L1_uc003bjl.3_Silent_p.A178A|MOV10L1_uc003bjm.1_Silent_p.A94A	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1051					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GCCTCCTGGCCCACAGCATCT	0.652000														55			13		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228482721	228482721	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228482721C>T	uc009xez.1	+	42	11680	c.11636C>T	c.(11635-11637)aCc>aTc	p.T3879I	OBSCN_uc001hsn.3_Missense_Mutation_p.T3879I|OBSCN_uc001hsq.1_Missense_Mutation_p.T1135I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3879	Ig-like 39.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGAGAGGACCTCGGCCACA	0.582000														89			35		0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75500155	75500155	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75500155G>A	uc001xrd.1	-	6	3898	c.3682C>T	c.(3682-3684)Cat>Tat	p.H1228Y	MLH3_uc001xre.1_Intron|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	1228					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.R1227L(1)|p.H1228N(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ATACGCTCATGGGCAGCGTGC	0.478000								Mismatch excision repair (MMR)						42			15		0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56349080	56349081	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56349080_56349081GG>AT	uc002ivu.1	-	10	2142_2143	c.1965_1966CC>AT	c.(1963-1968)ggccgc>ggATgc	p.R656C		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	656					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GGGCCCACGCGGCCTTTGCGCT	0.634000														36			13		0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96267073	96267073	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96267073C>T	uc001kjr.2	+	6	1754	c.1569C>T	c.(1567-1569)ttC>ttT	p.F523F		NM_015188	NP_056003	O60347	TBC12_HUMAN	Homo sapiens TBC1 domain family, member 12 (TBC1D12), mRNA.	523	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GGAAAAGTTTCAGTGAAACAA	0.338000														85			16		0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110163726	110163726	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110163726T>C	uc009wfh.1	+	1	633	c.91T>C	c.(91-93)Ttg>Ctg	p.L31L	AMPD2_uc009wfg.1_Intron|AMPD2_uc001dyb.1_Intron|AMPD2_uc001dyc.1_Silent_p.L31L|AMPD2_uc010ovr.1_5'UTR|AMPD2_uc010ovs.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	31					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAGGAAGGGGTTGGATGTGGC	0.672000														16			4		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330444	125330444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125330444G>A	uc004bmp.1	-	0	313	c.313C>T	c.(313-315)Ctc>Ttc	p.L105F		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAGGCATAGAGAAAATACATC	0.488000														52			28		0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39224351	39224351	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:39224351C>T	uc003awk.3	-	1	945	c.791G>A	c.(790-792)aGg>aAg	p.R264K		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	264						integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CACTTCCTGCCTCTGCCGGCG	0.652000														42			22		0	0	1	0	0
PAGE4	9506	broad.mit.edu	37	X	49597176	49597176	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:49597176G>A	uc004don.1	+	3	294	c.215G>A	c.(214-216)cGg>cAg	p.R72Q		NM_007003	NP_008934	O60829	GAGC1_HUMAN	Homo sapiens P antigen family, member 4 (prostate associated) (PAGE4), mRNA.	72												Ovarian(276;0.236)					GAAAAGACTCGGAGTGAGCGT	0.358000														30			7		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870938	51870938	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:51870938C>T	uc002xwo.3	+	1	1828	c.941C>T	c.(940-942)tCg>tTg	p.S314L	TSHZ2_uc021wex.1_Missense_Mutation_p.S311L	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	314					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACCATTTCCTCGAAAATGGTC	0.458000														100			10		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1418759	1418759	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:1418759G>A	uc003boz.3	+	17	2433	c.2166_splice	c.e17+1	p.E722_splice	CNTN6_uc011asj.2_Splice_Site_p.E650_splice|CNTN6_uc003bpa.3_Splice_Site_p.E722_splice	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	722	Fibronectin type-III 2.				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)		TTACGTGGGAGGTAATTTTCT	0.398000														99			43		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4201467	4201467	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:4201467C>T	uc003smx.3	+	31	4918	c.4779C>T	c.(4777-4779)tcC>tcT	p.S1593S	SDK1_uc010kso.3_Silent_p.S869S|SDK1_uc003smy.3_Silent_p.S80S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1593	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACACCACGTCCTCTGTCCTGA	0.562000														116			44		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960771	73960771	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	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														18			28		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137748500	137748500	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:137748500A>T	uc002tva.1	+	0	39	c.39A>T	c.(37-39)aaA>aaT	p.K13N	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTATCACAAATTAGCAGGTA	0.393000														5			6		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377374	77377374	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77377374C>T	uc004ajl.1	-	25	4451	c.4213G>A	c.(4213-4215)Gaa>Aaa	p.E1405K	TRPM6_uc004ajk.1_Missense_Mutation_p.E1400K|TRPM6_uc022bib.1_Missense_Mutation_p.E1400K|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.E361K	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1405					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E1405K(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCGTGCTTTTCCTTGGGTTCA	0.512000														61			25		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361307	107361307	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107361307G>A	uc011lvp.2	-	0	388	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GGATATCTCAGAGGGTTGCAG	0.512000														86			18		0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233348889	233348889	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233348889C>T	uc002vsv.2	-	6	1434	c.1229G>A	c.(1228-1230)aGt>aAt	p.S410N	ECEL1_uc010fya.1_Missense_Mutation_p.S410N|ECEL1_uc010fyb.1_Missense_Mutation_p.S117N	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	410					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CAGGTGTTCACTCAGGACCAC	0.647000														33			7		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639790	3639790	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3639790G>A	uc002cvp.2	-	11	4476	c.3849C>T	c.(3847-3849)gcC>gcT	p.A1283A		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1283	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.A1283V(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCGCCTGCACGGCCAGCCCGC	0.632000								Direct reversal of damage						81			41		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090630	9090630	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9090630G>A	uc002mkp.3	-	0	1389	c.1185C>T	c.(1183-1185)acC>acT	p.T395T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	395	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						TGCCACCAAGGGTACCTGGAC	0.512000														44			10		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531877	42531877	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:42531877G>A	uc010dni.3	+	3	2868	c.2572G>A	c.(2572-2574)Gag>Aag	p.E858K		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	858						nucleus	DNA binding	p.K858N(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCCTGTGAGCGAGTCCCACAG	0.572000									Schinzel-Giedion syndrome					31			13		0	0	1	0	0
LOC644189	644189	broad.mit.edu	37	19	36912833	36912833	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36912833G>A	uc002odz.1	+	0		c.758G>A								Homo sapiens acyl-CoA thioesterase 4 pseudogene (LOC644189), non-coding RNA.																		AAGGGGTGCGGAGCGATTCGG	0.662000														24			7		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125877456	125877456	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:125877456G>A	uc003eim.1	-	2	344	c.154C>T	c.(154-156)Ccg>Tcg	p.P52S	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.P52S|ALDH1L1_uc003eio.3_5'Flank|ALDH1L1_uc010hsf.1_Missense_Mutation_p.P78S|ALDH1L1_uc003eip.1_5'UTR|ALDH1L1_uc011bkj.1_Intron	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	52	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTGAATACCGGCACTCCATCC	0.582000														107			19		0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158974450	158974450	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:158974450G>A	uc002tzo.3	+	6	645	c.625_splice	c.e6+1	p.G209_splice	UPP2_uc002tzp.3_Splice_Site_p.G152_splice	NM_001135098	NP_775491	O95045	UPP2_HUMAN	Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.	152					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						AGGGGGAATAGGTGAGACGGA	0.433000														95			29		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102337662	102337662	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:102337662C>T	uc003pqp.4	+	10	1965	c.1672C>T	c.(1672-1674)Cct>Tct	p.P558S	GRIK2_uc003pqn.3_Missense_Mutation_p.P558S|GRIK2_uc010kcw.3_Missense_Mutation_p.P558S|GRIK2_uc003pqo.4_Missense_Mutation_p.P558S|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	558					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)	CTTCCTGAATCCTCTCTCCCC	0.448000														119			62		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947048	237947048	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:237947048G>A	uc001hyl.1	+	89	12156	c.12036G>A	c.(12034-12036)atG>atA	p.M4012I	RYR2_uc010pya.2_Missense_Mutation_p.M427I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4012					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)			ACGTGGAGATGATTCTCAAAT	0.383000														21			6		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16638370	16638370	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:16638370C>T	uc002gqk.1	+	11	2861	c.2785C>T	c.(2785-2787)Caa>Taa	p.Q929*	CCDC144A_uc002gql.1_Nonsense_Mutation_p.Q399*|CCDC144A_uc010cpj.1_Non-coding_Transcript	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	929																	TGACTGTGATCAAAGTCAGAC	0.408000														12			14		0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27838116	27838116	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27838116C>T	uc002rla.3	+	10	1300	c.1213C>T	c.(1213-1215)Cgt>Tgt	p.R405C	ZNF512_uc010ylw.2_Missense_Mutation_p.R376C|ZNF512_uc002rlb.3_Missense_Mutation_p.R326C|ZNF512_uc010ylx.2_Missense_Mutation_p.R326C|ZNF512_uc002rlc.3_Missense_Mutation_p.R326C|ZNF512_uc010ylv.2_Missense_Mutation_p.R326C|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_Missense_Mutation_p.R298C	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	Homo sapiens zinc finger protein 512 (ZNF512), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GAAATATCATCGTATTCAGTG	0.373000														153			38		0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15203859	15203859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:15203859C>T	uc003zlr.2	-	6	758	c.721G>A	c.(721-723)Gag>Aag	p.E241K	TTC39B_uc003zlq.2_Missense_Mutation_p.E144K|TTC39B_uc011lmp.2_Missense_Mutation_p.E76K|TTC39B_uc010mie.2_Missense_Mutation_p.E239K|TTC39B_uc011lmr.2_Missense_Mutation_p.E172K|TTC39B_uc011lmq.2_Missense_Mutation_p.E241K|TTC39B_uc010mif.2_Missense_Mutation_p.E241K|TTC39B_uc003zls.1_Missense_Mutation_p.E76K|TTC39B_uc010mig.1_Missense_Mutation_p.E144K|TTC39B_uc011lms.2_Non-coding_Transcript	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	175							binding	p.A241S(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						AGGAGACACTCGGCATAACAG	0.388000														27			11		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107677897	107677897	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107677897C>T	uc010ljo.1	-	29	4699	c.4615G>A	c.(4615-4617)Gaa>Aaa	p.E1539K	LAMB4_uc003vey.2_Missense_Mutation_p.E1539K|LAMB4_uc010ljp.1_Missense_Mutation_p.E508K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1539	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AACCTGTTTTCATCTGTCCTG	0.388000														252			77		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7059991	7059991	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7059991G>A	uc001mfb.1	+	1	497	c.174G>A	c.(172-174)ctG>ctA	p.L58L		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	58	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGGAGGACCTGGCCAATTTGA	0.458000														82			18		0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247209	142247209	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142247209G>A	uc003vyd.4	-	1	272	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GCAAAGAACCGATCGTTGGGC	0.572000														99			38		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125274	12125274	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:12125274C>T	uc003nac.3	+	3	5425	c.5246C>T	c.(5245-5247)tCc>tTc	p.S1749F	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1749					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGGATGCTTTCCCCAGCAAAT	0.433000														85			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222493	140222493	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140222493G>A	uc003lhs.2	+	0	1587	c.1587G>A	c.(1585-1587)gaG>gaA	p.E529E	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_uc003lhr.1_Silent_p.E529E	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	543	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGCTAGAGCTGCTGCAGT	0.677000														39			69		0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143853238	143853238	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:143853238G>A	uc003lnm.1	+	3	1477	c.848G>A	c.(847-849)tGg>tAg	p.W283*	KCTD16_uc003lnn.1_Nonsense_Mutation_p.W283*	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	283						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CCTTCCAGATGGTCACCCTCA	0.507000														69			24		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43680132	43680132	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43680132C>T	uc002ovu.3	-	2	730	c.599G>A	c.(598-600)aGg>aAg	p.R200K	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.R200K	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	200	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AATGAGGATCCTGTTTTCAAT	0.507000														197			79		0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105361807	105361807	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105361807G>A	uc010qqu.1	-	11	2980	c.2913C>T	c.(2911-2913)tcC>tcT	p.S971S	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Silent_p.S863S|SH3PXD2A_uc010qqt.1_Silent_p.S905S|SH3PXD2A_uc009xxn.1_Silent_p.S863S|SH3PXD2A_uc001kxj.1_Silent_p.S1028S	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	1056					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGCGCACAGGGGACACGGGTA	0.627000														129			52		0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61223558	61223558	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61223558G>A	uc010xeo.2	+	0	166	c.166G>A	c.(166-168)Gag>Aag	p.E56K	SERPINB12_uc010xen.2_Missense_Mutation_p.E56K	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	56					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCAGATTGATGAGGTACGTGT	0.498000														116			60		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449242	104449242	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104449242G>A	uc004bbp.2	-	1	1541	c.940C>T	c.(940-942)Cag>Tag	p.Q314*	GRIN3A_uc004bbq.1_Nonsense_Mutation_p.Q314*	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	314					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTCTCAAGCTGGATCTGTAGG	0.488000														50			26		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53907746	53907746	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:53907746C>T	uc002acj.2	-	14	2699	c.2657G>A	c.(2656-2658)aGa>aAa	p.R886K	WDR72_uc010bfi.1_Missense_Mutation_p.R886K	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	886										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTCCAATCCTCTTGGAATTCC	0.313000														69			13		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149508805	149508805	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149508805G>A	uc010lpk.3	+	67	9535	c.9535_splice	c.e67+1	p.G3179_splice		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3182					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTGTGCGGAGGGTAAGGAAGC	0.632000														123			16		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18715676	18715676	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:18715676G>A	uc001rdt.3	+	25	3623	c.3507G>A	c.(3505-3507)ttG>ttA	p.L1169L	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.L1210L|PIK3C2G_uc010sic.2_Silent_p.L988L	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1169	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTGTTAAATTGAATAACTTGA	0.383000														18			4		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452929	138452929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:138452929G>A	uc003ihe.4	-	0	701	c.314C>T	c.(313-315)tCc>tTc	p.S105F	PCDH18_uc003ihf.4_Missense_Mutation_p.S98F|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	105	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AAACTCTATGGAACAGTTCAA	0.413000														174			65		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88678521	88678521	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:88678521C>T	uc002bme.2	-	9	1321	c.1015G>A	c.(1015-1017)Ggg>Agg	p.G339R	NTRK3_uc002bmh.2_Missense_Mutation_p.G339R|NTRK3_uc002bmf.2_Missense_Mutation_p.G339R|NTRK3_uc021sua.1_Missense_Mutation_p.G339R|NTRK3_uc010upl.1_Missense_Mutation_p.G241R|NTRK3_uc010bnh.1_Missense_Mutation_p.G339R|NTRK3_uc002bmg.3_Missense_Mutation_p.G339R	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	339	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGAGGCTGCCCATTGTGCAGC	0.592000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				107			16		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241727533	241727533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241727533C>T	uc010fzk.3	-	3	545	c.298G>A	c.(298-300)Ggt>Agt	p.G100S	KIF1A_uc002vzy.3_Missense_Mutation_p.G100S|KIF1A_uc002vzz.2_Missense_Mutation_p.G100S	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	100	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TTGCCGGCACCCGTCTGCCCA	0.642000														10			4		0	0	1	0	0
FAM153C	653316	broad.mit.edu	37	5	177473889	177473889	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:177473889C>T	uc011dge.2	+	9	497	c.290C>T	c.(289-291)tCc>tTc	p.S97F						Homo sapiens family with sequence similarity 153, member C (FAM153C), non-coding RNA.											kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAAGTCCTTCCTCTGCACCT	0.527000														82			26		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43821548	43821548	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43821548G>A	uc001zrt.3	+	3	8344	c.7877G>A	c.(7876-7878)gGa>gAa	p.G2626E		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2626						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GATCTTCGGGGAAAACGCTCA	0.657000														66			32		0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183226214	183226214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183226214G>A	uc003flr.3	-	2	600	c.542C>T	c.(541-543)gCt>gTt	p.A181V	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Missense_Mutation_p.A179V	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	181	BACK.							p.A181A(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTGTGTGTCAGCCAGCCTCAG	0.488000														85			31		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123540242	123540242	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:123540242C>T	uc010nqy.3	-	25	5144	c.5080G>A	c.(5080-5082)Gat>Aat	p.D1694N	ODZ1_uc011muj.2_Missense_Mutation_p.D1693N|ODZ1_uc004euj.3_Missense_Mutation_p.D1687N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1687					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.D1689H(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TTGGAAGTATCTAGCTCCACT	0.458000														81			40		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	54015097	54015097	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54015097C>T	uc002acj.2	-	2	204	c.162G>A	c.(160-162)gcG>gcA	p.A54A	WDR72_uc010bfi.1_Silent_p.A54A	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	54								p.A54A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GGAGTTCTTTCGCTGAAATCT	0.353000														136			16		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108383934	108383934	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:108383934T>A	uc001pkk.3	-	5	2411	c.2300A>T	c.(2299-2301)aAa>aTa	p.K767I	EXPH5_uc010rvz.2_Missense_Mutation_p.K611I|EXPH5_uc010rvy.2_Missense_Mutation_p.K579I	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	767					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GGGTGACTTTTTTGAACTTAT	0.378000														144			64		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37354527	37354527	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:37354527C>T	uc022abv.1	-	4	830	c.120_splice	c.e4-1	p.G40_splice	ELMO1_uc003tfk.2_Splice_Site_p.G40_splice|ELMO1_uc010kxg.2_Splice_Site_p.G40_splice	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	40					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AAGAGACCACCTTAAAAATAC	0.343000														30			7		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304454	3304454	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3304454C>T	uc002cun.1	-	1	654	c.614G>A	c.(613-615)aGa>aAa	p.R205K	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	205					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.R204C(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GCTGGCGTTTCTGCGCAGCCG	0.756000														21			10		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42128605	42128605	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:42128605G>A	uc003baz.1	+	10	1354	c.1329G>A	c.(1327-1329)ctG>ctA	p.L443L	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc003bay.3_Silent_p.L443L|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	443							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTGCTTTTCTGAGGTGAGAGA	0.542000														46			16		0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89531571	89531571	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:89531571C>T	uc001pdb.3	-	7	1415	c.1086G>A	c.(1084-1086)cgG>cgA	p.R362R		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	362	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TCTTCTCTTTCCGATACATAT	0.453000														146			42		0	0	1	0	0
MGST2	4258	broad.mit.edu	37	4	140616381	140616381	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:140616381C>T	uc003ihy.3	+	2	441	c.189C>T	c.(187-189)ttC>ttT	p.F63F	MGST2_uc021xsf.1_Silent_p.F63F|MGST2_uc010ioi.1_5'UTR|MGST2_uc021xse.1_Intron	NM_002413	NP_001191296	Q99735	MGST2_HUMAN	Homo sapiens microsomal glutathione S-transferase 2 (MGST2), transcript variant 1, mRNA.	63					glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Glutathione(DB00143)	ATCCTATATTCATAATTACAT	0.318000														64			12		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237753151	237753151	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:237753151G>A	uc001hyl.1	+	29	3777	c.3657G>A	c.(3655-3657)aaG>aaA	p.K1219K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1219	4 X approximate repeats.|B30.2/SPRY 2.				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)			ACTTTGGAAAGGATGTCAGCA	0.408000														45			14		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20682893	20682893	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:20682893G>A	uc010kuh.3	+	5	638	c.401G>A	c.(400-402)cGa>cAa	p.R134Q		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	318	ABC transporter 1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ACTGCAGCACGACAGACCAAG	0.418000														27			15		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072667	17072667	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17072667C>T	uc002zlp.1	-	0	1034	c.774G>A	c.(772-774)acG>acA	p.T258T		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	258					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AAAGACGGGCCGTTGCTGGTG	0.507000														96			40		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166152463	166152463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166152463G>A	uc002udc.3	+	1	420	c.130G>A	c.(130-132)Gag>Aag	p.E44K	SCN2A_uc002udd.3_Missense_Mutation_p.E44K|SCN2A_uc002ude.3_Missense_Mutation_p.E44K	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	44					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACGCAAGGATGAGGATGATGA	0.463000														47			7		0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25145731	25145731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:25145731C>T	uc003abd.1	-	9	1562	c.1145G>A	c.(1144-1146)aGa>aAa	p.R382K	PIWIL3_uc011ajx.1_Missense_Mutation_p.R273K|PIWIL3_uc010gut.1_Missense_Mutation_p.R382K|PIWIL3_uc011ajy.1_Missense_Mutation_p.R273K	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	382	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTTTTTCCATCTGCCCTGGCT	0.463000														58			20		0	0	1	0	0
GGA2	23062	broad.mit.edu	37	16	23492068	23492068	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23492068G>A	uc002dlq.3	-	9	987	c.904C>T	c.(904-906)Ctc>Ttc	p.L302F	GGA2_uc010bxo.2_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	302	GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TGGGTGAGGAGGTCATTTGCC	0.498000														56			28		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146673593	146673593	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:146673593A>T	uc010khw.1	+	4	1864	c.1394A>T	c.(1393-1395)gAg>gTg	p.E465V	GRM1_uc010khv.1_Missense_Mutation_p.E465V|GRM1_uc003qll.2_Missense_Mutation_p.E465V|GRM1_uc011edz.1_Missense_Mutation_p.E465V|GRM1_uc011eea.1_Missense_Mutation_p.E465V	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	465					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GTATCTGGAGAGGAGGTGTGG	0.522000														126			45		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6965357	6965357	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:6965357G>A	uc002knm.3	-	49	7219	c.7125C>T	c.(7123-7125)acC>acT	p.T2375T	LAMA1_uc002knl.3_5'UTR|LAMA1_uc010wzj.2_Silent_p.T1851T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2375	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTCAAAAGGGTAATGGGTC	0.463000														93			40		0	0	1	0	0
MOCS2	4338	broad.mit.edu	37	5	52394456	52394456	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:52394456C>A	uc003joz.3	-	6	957	c.543G>T	c.(541-543)gaG>gaT	p.E181D	MOCS2_uc011cqf.2_3'UTR	NM_004531	NP_004522	O96033	MOC2A_HUMAN	Homo sapiens molybdenum cofactor synthesis 2 (MOCS2), transcript variant 3, mRNA.	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCCAAAAGCACTCTTTGTTTC	0.279000														81			29		8.16721e-17	8.20829e-17	1	1	0
PTPRT	11122	broad.mit.edu	37	20	41306651	41306651	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:41306651C>T	uc002xkg.3	-	6	1192	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E	PTPRT_uc010ggj.3_Silent_p.E336E	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	336	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.E336A(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTATGTGGGTCTCTGCCCACG	0.552000														92			41		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275341	71275341	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71275341T>A	uc003hfi.3	+	2	470	c.296T>A	c.(295-297)tTt>tAt	p.F99Y		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	99	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CCTCGACTCTTTCCGGGTTAT	0.418000														180			70		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	140781	140781	+	Missense_Mutation	SNP	G	A	A	rs143686104	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140781G>A	uc003jak.2	+	0	409	c.359G>A	c.(358-360)gGg>gAg	p.G120E		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	120					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAAGCTGTGGGGACCCCAAAC	0.662000														27			11		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163754	159163754	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159163754G>A	uc001ftl.2	+	4	794	c.615G>A	c.(613-615)gcG>gcA	p.A205A	CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Silent_p.A239A	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	205	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	p.A239A(1)		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)					ATGATGGGGCGAGCATCGTGT	0.502000														59			29		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256502	24256502	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24256502G>A	uc003xdz.2	+	8	1098	c.878G>A	c.(877-879)tGg>tAg	p.W293*	ADAMDEC1_uc010lub.2_Nonsense_Mutation_p.W214*|ADAMDEC1_uc011lab.1_Nonsense_Mutation_p.W214*	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	293	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTCCTGAGATGGCACAGTTCT	0.507000														44			16		0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23292929	23292929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:23292929G>A	uc003xdl.3	-	10	1708	c.1436C>T	c.(1435-1437)tCt>tTt	p.S479F	ENTPD4_uc011kzu.1_Missense_Mutation_p.S471F|ENTPD4_uc003xdm.3_Missense_Mutation_p.S471F|ENTPD4_uc011kzv.1_Missense_Mutation_p.S479F	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA.	479					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GTCAGCATGAGAGGCGTACAG	0.478000														29			7		0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46288297	46288297	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:46288297G>A	uc001van.1	+	2	1217	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E	SPERT_uc001vao.2_Silent_p.E343E	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	379						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		TGCAGGAGGAGAACAGGACCC	0.657000														15			4		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738894	176738894	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176738894C>T	uc001gkz.3	+	15	5639	c.4475C>T	c.(4474-4476)tCt>tTt	p.S1492F	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1492	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCTCAATCTCTTGTGTCCCA	0.522000														106			52		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43846459	43846459	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:43846459C>T	uc010skx.2	-	12	1800	c.1800G>A	c.(1798-1800)atG>atA	p.M600I		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	600	TSP type-1 1.					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)		ATCGAAATTTCATCCTGCGGC	0.388000														17			10		0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34356343	34356343	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34356343C>T	uc001zhk.1	+	2	2095	c.1425C>T	c.(1423-1425)acC>acT	p.T475T	CHRM5_uc001zhl.1_Silent_p.T475T|CHRM5_uc021sir.1_Silent_p.T475T	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	475					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	TCCCAGTCACCCTGTGGCACT	0.498000														72			30		0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38774898	38774898	+	Nonsense_Mutation	SNP	G	A	A	rs145139818	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:38774898G>A	uc003gtj.3	-	3	2952	c.2314C>T	c.(2314-2316)Cga>Tga	p.R772*	TLR10_uc021xnk.1_Nonsense_Mutation_p.R758*|TLR10_uc003gti.3_Nonsense_Mutation_p.R772*|TLR10_uc021xnl.1_Nonsense_Mutation_p.R772*|TLR10_uc003gtk.3_Nonsense_Mutation_p.R772*|TLR10_uc021xnm.1_Nonsense_Mutation_p.R772*	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	772	TIR.				MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATAGCAGCTCGAAGGTTTGCC	0.418000														97			33		0	0	1	0	0
CCDC74B	91409	broad.mit.edu	37	2	130897787	130897787	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:130897787C>T	uc010yzw.1	-	3	1891	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	CCDC74B_uc002tqm.1_Missense_Mutation_p.E281K|CCDC74B_uc002tqn.1_Missense_Mutation_p.E215K			Q96LY2	CC74B_HUMAN	Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA.	281										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TTCCACAGCTCGCGGATGAGC	0.682000														67			19		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45782899	45782899	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:45782899C>T	uc003bgc.3	-	10	1811	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	SMC1B_uc003bgd.3_Missense_Mutation_p.E587K|SMC1B_uc003bge.1_Missense_Mutation_p.E370K	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	587	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCTTTAAGCTCCCTTAGTCTT	0.328000														100			26		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62844957	62844957	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62844957G>A	uc002yii.3	+	9	1952	c.1588G>A	c.(1588-1590)Gga>Aga	p.G530R	MYT1_uc002yih.3_Missense_Mutation_p.G232R|MYT1_uc002yij.3_Missense_Mutation_p.G162R	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	530					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCCGCAGACAGGAGATCCTTC	0.542000														45			27		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158641160	158641160	+	Silent	SNP	G	A	A	rs41273525		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158641160G>A	uc001fst.1	-	11	1771	c.1572C>T	c.(1570-1572)gcC>gcT	p.A524A		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	524					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGGCAGTAAAGGCTTCCTCAA	0.468000														43			9		0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43023314	43023314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43023314C>T	uc002otv.3	-	4	1167	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eii.3_Intron|CEACAM1_uc010eij.3_Silent_p.V344V|CEACAM1_uc002otw.3_Silent_p.V344V|CEACAM1_uc002otx.3_Intron|CEACAM1_uc002oty.3_Intron|CEACAM1_uc002otz.3_Intron|CEACAM1_uc010eik.3_Intron|CEACAM1_uc002oua.3_Silent_p.V344V|CEACAM1_uc002oub.3_Intron	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	344	Ig-like C2-type 3.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	AGGTCAGGTTCACAGAGTCCT	0.502000														98			56		0	0	1	0	0
KCNN1	3780	broad.mit.edu	37	19	18092715	18092715	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18092715C>A	uc002nht.3	+	4	1006	c.696C>A	c.(694-696)atC>atA	p.I232I	KCNN1_uc010xqa.1_Silent_p.I232I	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	232					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						TGCTGTCCATCCCCATGTTCC	0.672000														21			6		0.00198382	0.00198529	1	1	0
TACSTD2	4070	broad.mit.edu	37	1	59042069	59042069	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:59042069C>T	uc001cyz.4	-	0	1098	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_002353	NP_002344	P09758	TACD2_HUMAN	Homo sapiens tumor-associated calcium signal transducer 2 (TACSTD2), mRNA.	254					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					AGCGTGCGCTCCACCTGCAGG	0.642000														21			8		0	0	1	0	0
KRT7	3855	broad.mit.edu	37	12	52636807	52636807	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52636807C>T	uc001saa.1	+	5	997	c.870C>T	c.(868-870)ctC>ctT	p.L290L		NM_005556	NP_005547	P08729	K2C7_HUMAN	Homo sapiens keratin 7 (KRT7), mRNA.	290	Coil 2.|Rod.				DNA replication|cytoskeleton organization|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		TTGAGACCCTCCAGGCCCAGG	0.587000														76			18		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15326031	15326031	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15326031G>A	uc001iob.3	-	1	178	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	57						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCTGGTTGGTGAAGATCTCGA	0.552000														48			22		0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14706282	14706282	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:14706282C>T	uc001rcc.1	-	1	341	c.180G>A	c.(178-180)atG>atA	p.M60I		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	60					lipid catabolic process	extracellular region	hydrolase activity	p.V59V(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						CATTCTTGTCCATTACATTTT	0.448000														98			18		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400463	40400463	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:40400463G>A	uc003oph.1	-	1	855	c.390C>T	c.(388-390)atC>atT	p.I130I		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	130						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGTTGTTCACGATAAGGTGCT	0.592000														44			12		0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202861744	202861744	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:202861744G>A	uc001gyo.1	-	11	1824	c.1624C>T	c.(1624-1626)Cct>Tct	p.P542S	KLHL12_uc001gym.1_3'UTR|KLHL12_uc001gyn.1_3'UTR|KLHL12_uc010pqc.1_Missense_Mutation_p.P580S	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.	542	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCGATGATAGGGTCATAACAT	0.493000														59			13		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657081	81657081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81657081G>A	uc001szo.2	-	30	3802	c.3641C>T	c.(3640-3642)tCc>tTc	p.S1214F	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.S1113F|PPFIA2_uc021rbh.1_Missense_Mutation_p.S1109F|PPFIA2_uc021rbi.1_Missense_Mutation_p.S1208F|PPFIA2_uc021rbj.1_Missense_Mutation_p.S1193F|PPFIA2_uc021rbk.1_Missense_Mutation_p.S1199F|PPFIA2_uc021rbl.1_Missense_Mutation_p.S1214F|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.S750F|PPFIA2_uc021rbf.1_Missense_Mutation_p.S400F	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	1114										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGTTTCTGAGGACCCAGGCAT	0.458000														21			12		0	0	1	0	0
NCAPH	23397	broad.mit.edu	37	2	97033013	97033013	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:97033013C>T	uc002svz.1	+	14	1984	c.1900C>T	c.(1900-1902)Cac>Tac	p.H634Y	NCAPH_uc010yum.1_Missense_Mutation_p.H610Y|NCAPH_uc010yun.1_Missense_Mutation_p.H498Y	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	634					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		p.I633T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AATTGAAATTCACTATGCCAA	0.388000														87			35		0	0	1	0	0
CLEC1A	51267	broad.mit.edu	37	12	10241809	10241809	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10241809G>A	uc001qxb.3	-	1	212	c.128C>T	c.(127-129)cCc>cTc	p.P43L	CLEC1A_uc001qxd.3_Intron|CLEC1A_uc010sgx.2_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	43					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CGTTGAAGAGGGAGCCCTGTG	0.527000														40			8		0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327285	52327285	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52327285C>T	uc002pxt.1	+	1	468	c.284C>T	c.(283-285)tCa>tTa	p.S95L	FPR3_uc021uyq.1_Missense_Mutation_p.S95L	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	95					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CCTTTTGGCTCATTCCTATGT	0.453000														93			38		0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75408259	75408259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:75408259G>A	uc001jut.4	-	3	1303	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F	SYNPO2L_uc001jus.4_Missense_Mutation_p.S160F	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	384						cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CCCTCGCCCAGAGACCTCACT	0.647000														88			19		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49812813	49812813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:49812813C>T	uc001jgu.3	-	0	326	c.29G>A	c.(28-30)aGg>aAg	p.R10K	ARHGAP22_uc001jgt.3_Missense_Mutation_p.R10K|ARHGAP22_uc010qgl.2_Missense_Mutation_p.R10K|ARHGAP22_uc010qgm.2_Intron|ARHGAP22_uc001jgv.3_Intron	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	10					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTACCCCTCCTGGCCTGCCT	0.607000														70			25		0	0	1	0	0
ARID3C	138715	broad.mit.edu	37	9	34627700	34627700	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:34627700G>A	uc011lon.2	-	0	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CTACCTGCTTGAATTGTTCCT	0.622000														64			9		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743056	26743056	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:26743056C>T	uc001mra.2	-	0	519	c.206G>A	c.(205-207)gGg>gAg	p.G69E	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.4_Missense_Mutation_p.G69E	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	69					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.G69G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AGAAGGGGTCCCCAGGACCGT	0.527000														55			20		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541132	55541132	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55541132C>T	uc010ril.2	+	0	219	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGACAGACTTCTGTTTTTCCA	0.388000														110			39		0	0	1	0	0
DHRS4	10901	broad.mit.edu	37	14	24511906	24511906	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24511906C>T	uc010alc.3	+	2	316	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F	DHRS4_uc021rrd.1_Intron|DHRS4_uc021rrf.1_Intron|DHRS4_uc010tnu.2_Intron|DHRS4_uc021rrg.1_Intron|DHRS4_uc021rrh.1_Intron|DHRS4_uc021rri.1_Intron|DHRS4_uc021rrj.1_Intron	NM_001082488	NP_001075957	Q9BTZ2	DHRS4_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 4 like 1 (DHRS4L1), mRNA.	106						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	GGCTATGAAGCTTCATGGAGT	0.448000														203			52		0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487659	131487659	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:131487659C>T	uc002trv.2	+	0	1017	c.935C>T	c.(934-936)cCc>cTc	p.P312L		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	312						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					ATGATGCTTCCCCGTGCCATG	0.592000														54			16		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56392835	56392835	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56392835G>A	uc002qmd.4	+	10	3290	c.2868_splice	c.e10-1	p.G956_splice	NLRP4_uc002qmf.3_Splice_Site_p.G881_splice|NLRP4_uc010etf.3_Splice_Site_p.G731_splice	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	956							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TATTTTACCAGGCTGAGAAAA	0.413000														24			7		0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469120	72469120	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:72469120C>T	uc010izc.3	+	0	98	c.50C>T	c.(49-51)tCc>tTc	p.S17F		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	17						integral to membrane		p.S17F(2)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		AATGTGTTCTCCGTCACTCCT	0.577000														264			33		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4829654	4829654	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:4829654G>A	uc003bqc.3	+	50	6944	c.6594G>A	c.(6592-6594)atG>atA	p.M2198I	ITPR1_uc021wsi.1_Missense_Mutation_p.M2165I|ITPR1_uc021wsj.1_Missense_Mutation_p.M2150I|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2213					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACCGAACAATGGAACAGATAG	0.383000														20			6		0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92307812	92307812	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:92307812C>T	uc003yez.3	+	3	597	c.358C>T	c.(358-360)Cct>Tct	p.P120S	SLC26A7_uc003yex.3_Missense_Mutation_p.P120S|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.P120S	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	120						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACGGATTGTCCCTCAGAACAT	0.458000														89			31		0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52519592	52519592	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52519592G>A	uc002pyj.3	-	4	1661	c.1259C>T	c.(1258-1260)aCt>aTt	p.T420I	ZNF614_uc002pyi.4_Intron|ZNF614_uc010epj.3_Missense_Mutation_p.T123I	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	Homo sapiens zinc finger protein 614 (ZNF614), mRNA.	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCCTGTATGAGTTCGCTGATG	0.413000														290			29		0	0	1	0	0
SCGB1C1	147199	broad.mit.edu	37	11	193729	193729	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:193729G>A	uc001loa.1	+	1	93	c.73G>A	c.(73-75)Gac>Aac	p.D25N		NM_145651	NP_663626	Q8TD33	SG1C1_HUMAN	Homo sapiens secretoglobin, family 1C, member 1 (SCGB1C1), mRNA.	25						extracellular region	binding			endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CACAGGGGAGGACAACGATGA	0.572000														44			12		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451240	55451240	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55451240G>A	uc002qih.4	-	3	1023	c.947C>T	c.(946-948)cCg>cTg	p.P316L	NLRP7_uc010esk.3_Missense_Mutation_p.P316L|NLRP7_uc002qig.4_Missense_Mutation_p.P316L|NLRP7_uc002qii.4_Missense_Mutation_p.P316L|NLRP7_uc010esl.3_Missense_Mutation_p.P344L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	316	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TACGTAGATCGGCTGCTGCGC	0.607000														37			19		0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33644589	33644589	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:33644589G>A	uc021wvc.1	-	17	1993	c.1782C>T	c.(1780-1782)tcC>tcT	p.S594S	CLASP2_uc021wvb.1_Silent_p.S360S|CLASP2_uc021wvd.1_Silent_p.S593S|CLASP2_uc003cfv.3_Silent_p.S366S|CLASP2_uc011axu.1_Silent_p.S370S|CLASP2_uc003cfw.2_Silent_p.S366S|CLASP2_uc011axt.1_Silent_p.S168S	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	594										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTCCTGGAAGGGAACTGGCTT	0.453000														7			5		0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57512524	57512524	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:57512524G>A	uc003pdx.3	+	14	1436	c.1349G>A	c.(1348-1350)aGc>aAc	p.S450N		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	451					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTTGTGAGAGCCAACGTATT	0.373000														130			18		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181689418	181689418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181689418C>T	uc009wxt.3	+	13	2023	c.1828C>T	c.(1828-1830)Ctc>Ttc	p.L610F	CACNA1E_uc001gow.3_Missense_Mutation_p.L610F|CACNA1E_uc009wxs.3_Missense_Mutation_p.L610F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	610					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.L609V(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						GCTTTTCCTCCTCTTCCTCTT	0.463000														28			13		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106329522	106329522	+	Splice_Site	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106329522A>T	uc021ser.1	-	4391		c.63634_splice	c.e4391+1		DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_5'Flank|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron|IGHG1_uc001yse.3_Intron|IGHE_uc001ysj.3_5'Flank|IGHE_uc001ysk.1_5'Flank|IGHE_uc001ysl.1_5'Flank|IGHE_uc001ysm.2_Intron|IGHE_uc001ysn.1_Intron|abParts_uc021set.1_5'Flank					Parts of antibodies, mostly variable regions.																		CCACCCAGAGACCTTCTGTCT	0.567000														42			30		0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95274346	95274346	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:95274346C>T	uc011lty.2	-	4	1304	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.D351N|ECM2_uc004asg.3_Missense_Mutation_p.D351N	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	373					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TTACTCAGATCAAGCCTTTCC	0.393000														59			25		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9307218	9307218	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:9307218G>A	uc001qvl.3	-	28	3797	c.3768C>T	c.(3766-3768)tcC>tcT	p.S1256S	PZP_uc009zgl.3_Silent_p.S1042S	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGACCTGGGTGGAGGAGAAAC	0.512000														19			9		0	0	1	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106053911	106053911	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106053911G>A	uc001yrt.3	-	2	657	c.626C>T	c.(625-627)aCc>aTc	p.T209I	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		GATGTTGGCGGTTAGTGGGGT	0.612000														45			20		0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104312939	104312939	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104312939C>T	uc004bbn.3	+	9	1234	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	Homo sapiens ring finger protein 20 (RNF20), mRNA.	382					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TCCAGAATATCGCTGCATGCA	0.507000														124			83		0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102490132	102490132	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:102490132C>T	uc002tbc.3	+	23	3162	c.2784C>T	c.(2782-2784)ctC>ctT	p.L928L	MAP4K4_uc002tbf.3_Silent_p.L881L|MAP4K4_uc002tbd.3_Silent_p.L820L|MAP4K4_uc010yvy.2_Silent_p.L843L|MAP4K4_uc002tbh.3_Silent_p.L765L|MAP4K4_uc002tbg.3_Silent_p.L847L|MAP4K4_uc002tbi.3_Silent_p.L650L|MAP4K4_uc010yvz.2_Silent_p.L887L|MAP4K4_uc002tbk.3_Silent_p.L302L|MAP4K4_uc021vlq.1_Silent_p.L33L|MAP4K4_uc002tbl.3_Silent_p.L33L	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	847	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTAGCACACTCCAGAAACACA	0.363000														24			6		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147120535	147120535	+	Missense_Mutation	SNP	C	T	T	rs148365070	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:147120535C>T	uc011bno.2	-	1	386	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	ZIC4_uc021xff.1_Missense_Mutation_p.R55Q|ZIC4_uc003ewd.2_Missense_Mutation_p.R17Q|ZIC4_uc021xfg.1_Missense_Mutation_p.R17Q	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	17						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAGAGTGTTTCGGTAAAGCCG	0.353000														147			43		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690158	33690158	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:33690158G>A	uc002hjg.4	-	1	916	c.669C>T	c.(667-669)ttC>ttT	p.F223F	SLFN11_uc010ctr.3_Silent_p.F223F|SLFN11_uc010ctp.3_Silent_p.F223F|SLFN11_uc010ctq.3_Silent_p.F223F|SLFN11_uc002hjh.4_Silent_p.F223F	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	223						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATATTCTTGGAAGTGTTTTG	0.378000														128			24		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080255	23080255	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23080255G>A	uc002dll.3	-	15	3171	c.3171C>T	c.(3169-3171)tcC>tcT	p.S1057S	USP31_uc002dlk.3_Silent_p.S329S|USP31_uc010vca.2_Silent_p.S360S|USP31_uc010bxm.3_Silent_p.S345S	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	1057	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GAGAAGAAGGGGATGTACTTG	0.547000														78			22		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115428861	115428861	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:115428861C>T	uc001efr.3	+	13	1330	c.1121C>T	c.(1120-1122)tCg>tTg	p.S374L	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.S374L|SYCP1_uc009wgw.3_Missense_Mutation_p.S374L	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	374					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)		GCTGCTCATTCGTTTGTGGTT	0.308000														104			48		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30531273	30531273	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30531273C>T	uc002dyi.4	+	29	3500	c.3324C>T	c.(3322-3324)ttC>ttT	p.F1108F	ITGAL_uc002dyj.4_Silent_p.F1024F|ITGAL_uc010vev.2_Silent_p.F342F	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	1108					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGCTCATTTTCATAGTGCTGT	0.587000														112			14		0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	480750	480750	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:480750G>A	uc002kkm.3	-	1	230	c.15C>T	c.(13-15)ttC>ttT	p.F5F		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	5					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CCTCCTCTGCGAAGTCGTCTG	0.552000														81			23		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2017126	2017126	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2017126G>A	uc021qsx.1	-	4	795	c.564C>T	c.(562-564)ctC>ctT	p.L188L	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.L188L	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	188						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGGACTCCAGGAGGAACTCGG	0.597000														36			8		0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39804951	39804951	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39804951C>T	uc002okw.2	-	0	1026	c.1026G>A	c.(1024-1026)ggG>ggA	p.G342G		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	342	Ig-like.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGCTGGAGTTCCCCAGCAGCC	0.687000														8			7		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35406890	35406890	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:35406890G>A	uc003xjr.2	+	1	512	c.184G>A	c.(184-186)Gat>Aat	p.D62N	UNC5D_uc003xjs.2_Missense_Mutation_p.D57N	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	62	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGAGCCAGATGATGCTTATAT	0.483000														45			13		0	0	1	0	0
CD276	80381	broad.mit.edu	37	15	73996202	73996202	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:73996202C>T	uc002avv.1	+	4	1170	c.936C>T	c.(934-936)gcC>gcT	p.A312A	CD276_uc010bjd.1_Silent_p.A166A|CD276_uc002avu.1_Silent_p.A312A|CD276_uc002avw.1_Intron|CD276_uc010ulb.1_Silent_p.A258A	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	312	Ig-like V-type 2.				T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						ACCGCACGGCCCTCTTCCCGG	0.642000														55			17		0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87329812	87329812	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87329812C>T	uc003ujb.3	+	3	776	c.365C>T	c.(364-366)tCa>tTa	p.S122L	ABCB1_uc003uiz.2_Intron|ABCB1_uc003uja.2_Intron|ABCB1_uc010lei.2_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.S105L|RUNDC3B_uc011khe.2_Missense_Mutation_p.S105L|RUNDC3B_uc003ujc.3_Missense_Mutation_p.S105L|RUNDC3B_uc003ujd.3_Missense_Mutation_p.S27L	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	122	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CGGAAAGTTTCACAGAATTGT	0.383000														55			26		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Missense_Mutation	SNP	G	A	A	rs137852790		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7578475G>A	uc002gim.2	-	4	649	c.455C>T	c.(454-456)cCg>cTg	p.P152L	TP53_uc002gig.1_Missense_Mutation_p.P152L|TP53_uc002gih.3_Missense_Mutation_p.P152L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P20L|TP53_uc010cnf.1_Missense_Mutation_p.P20L|TP53_uc002gii.1_Missense_Mutation_p.P20L|TP53_uc010cni.1_Missense_Mutation_p.P152L|TP53_uc010cnh.1_Missense_Mutation_p.P152L|TP53_uc002gij.2_Missense_Mutation_p.P152L|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P59L|TP53_uc002gio.2_Missense_Mutation_p.P20L|TP53_uc010vug.2_Missense_Mutation_p.P113L	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(129)|p.P151S(66)|p.P151H(27)|p.P152fs*18(23)|p.P152S(22)|p.P152R(14)|p.P151T(14)|p.P151P(12)|p.P152fs*14(10)|p.P151A(9)|p.P152Q(8)|p.0?(8)|p.P152T(7)|p.P151L(7)|p.P151fs*30(7)|p.P151R(7)|p.T150fs*16(6)|p.P152fs*29(5)|p.P152P(5)|p.?(5)|p.P153fs*28(5)|p.P152fs*28(4)|p.P59L(2)|p.P151_V173del23(2)|p.P152_P153del(2)|p.P20L(2)|p.D148_T155delDSTPPPGT(2)|p.T150_P153delTPPP(2)|p.P152fs*27(2)|p.Q144_G154del11(2)|p.P152A(2)|p.P153fs*16(1)|p.P59R(1)|p.P20R(1)|p.T57fs*16(1)|p.P151del(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		GGTGCCGGGCGGGGGTGTGGA	0.612000		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)				41			28		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332205	70332205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70332205G>A	uc001oqc.3	-	20	4107	c.3995C>T	c.(3994-3996)tCc>tTc	p.S1332F	SHANK2_uc010rqn.2_Missense_Mutation_p.S808F|SHANK2_uc001opz.3_Missense_Mutation_p.S803F|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1019					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CAAGTCCACGGATGCCAGAGG	0.567000														70			29		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88241775	88241775	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:88241775G>A	uc001pcq.3	-	8	3824	c.3624C>T	c.(3622-3624)agC>agT	p.S1208S	GRM5_uc009yvm.3_Silent_p.S1176S	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	1208					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ACGACGAGGAGCTCTGAGTGT	0.587000														42			16		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51936919	51936919	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:51936919C>T	uc003pah.1	-	7	872	c.596G>A	c.(595-597)gGa>gAa	p.G199E	PKHD1_uc003pai.3_Missense_Mutation_p.G199E	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	199	IPT/TIG 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.G199E(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCACCAGCTTCCCATCTGCCT	0.413000														66			10		0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85974125	85974125	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:85974125G>A	uc001kcv.3	+	16	2433	c.2328G>A	c.(2326-2328)gaG>gaA	p.E776E	CDHR1_uc001kcw.3_Intron|CDHR1_uc009xst.3_Silent_p.E480E|CDHR1_uc001kcx.3_Silent_p.E90E	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	776	Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTCCCAATGAGAACTGTAACA	0.612000														103			46		0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306249	2306249	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:2306249G>A	uc003gex.2	-	7	2138	c.1818C>T	c.(1816-1818)gcC>gcT	p.A606A	ZFYVE28_uc011bvk.2_Silent_p.A536A|ZFYVE28_uc011bvl.2_Silent_p.A576A|ZFYVE28_uc003gew.2_Silent_p.A492A	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	606					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTCTCTCAGGGGCCCTGTCGC	0.677000														43			8		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275650	152275650	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152275650G>A	uc001ezu.1	-	2	11748	c.11712C>T	c.(11710-11712)tcC>tcT	p.S3904S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3904	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCGGTGAGAGGATCCGGGGT	0.502000									Ichthyosis					88			30		0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64873464	64873464	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:64873464G>A	uc010wqi.2	+	1	251	c.14G>A	c.(13-15)gGg>gAg	p.G5E	CACNG5_uc010wqj.2_Missense_Mutation_p.G5E	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	5					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			AGTGCCTGCGGGAGGAAGGCC	0.632000														67			17		0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37891882	37891882	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37891882C>T	uc003asx.1	-	13	2205	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_Missense_Mutation_p.E48K|CARD10_uc003asw.1_Missense_Mutation_p.E444K|CARD10_uc003asy.1_Missense_Mutation_p.E730K	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	730					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CGAAGGATCTCTTGGGCTTTC	0.622000														53			18		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620855	7620855	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:7620855C>T	uc003bqm.2	+	7	2536	c.2262C>T	c.(2260-2262)ctC>ctT	p.L754L	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.L754L|GRM7_uc003bql.2_Silent_p.L754L|GRM7_uc003bqn.1_Silent_p.L337L|GRM7_uc010hch.1_Silent_p.L265L	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	754					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TTACAGATCTCCAAATCATTT	0.443000														79			39		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207640026	207640026	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207640026G>A	uc001hfw.3	+	1	333	c.214G>A	c.(214-216)Gat>Aat	p.D72N	CR2_uc001hfv.3_Missense_Mutation_p.D72N|CR2_uc009xch.3_Missense_Mutation_p.D72N	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	72	Sushi 1.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGACAAAGTGGATGGAACCTG	0.413000														109			48		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87362036	87362036	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:87362036G>A	uc001kdl.1	-	15	3125	c.3024C>T	c.(3022-3024)tcC>tcT	p.S1008S	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Silent_p.S579S|LOC100507470_uc001kdk.2_Intron	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	1008						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCAGTCAGATGGAGGTCCCGT	0.617000										Multiple Myeloma(13;0.14)				15			8		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28608057	28608057	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:28608057C>T	uc001urw.3	-	14	1991	c.1909G>A	c.(1909-1911)Gtc>Atc	p.V637I	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.V637I	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	637	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGATTGAGACTCCTGTTTTG	0.453000			"""Mis, O"""		"""AML, ALL"""									260			22		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249284	20249284	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20249284C>T	uc010tku.2	+	0	803	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GACTCATTTTCCCTAGATAAA	0.418000														113			38		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61822884	61822884	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61822884G>A	uc001jky.3	-	39	12918	c.12580C>T	c.(12580-12582)Cat>Tat	p.H4194Y	ANK3_uc001jkw.3_Missense_Mutation_p.H715Y|ANK3_uc009xpa.3_Missense_Mutation_p.H715Y|ANK3_uc001jkx.3_Missense_Mutation_p.H759Y|ANK3_uc010qih.2_Missense_Mutation_p.H1582Y|ANK3_uc001jkz.4_Missense_Mutation_p.H1575Y|ANK3_uc001jkv.3_Missense_Mutation_p.H114Y	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4194					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						ACAGGGTCATGGAAAACATTG	0.328000														27			8		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130763803	130763803	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:130763803C>T	uc003ysr.3	-	9	1810	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	310						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CAGAAGGGTTCCTCTATTCTT	0.478000														80			32		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872446	51872446	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:51872446C>T	uc002xwo.3	+	1	3336	c.2449C>T	c.(2449-2451)Ccc>Tcc	p.P817S	TSHZ2_uc021wex.1_Missense_Mutation_p.P814S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	817					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTCCAGGGTCCCCCCCATGAA	0.552000														82			34		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142151420	142151420	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:142151420C>T	uc003yvy.3	+	3	658	c.380C>T	c.(379-381)tCc>tTc	p.S127F	DENND3_uc003yvw.1_Missense_Mutation_p.S140F|DENND3_uc003yvx.3_Missense_Mutation_p.P206S|DENND3_uc010mep.3_Missense_Mutation_p.S140F	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	127	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GACTGCCTTTCCTGGTGAGCT	0.647000														109			7		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186008003	186008003	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:186008003C>T	uc001grq.1	+	37	6123	c.5894C>T	c.(5893-5895)aCc>aTc	p.T1965I		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1965	Ig-like C2-type 17.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCAGGTTCCACCAGCATGACT	0.368000														123			50		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885727	29885727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:29885727G>A	uc003afo.3	+	3	2169	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	706	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCAGTGAAGGAAGAAGCAAA	0.557000														145			53		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88690576	88690576	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:88690576G>A	uc002bme.2	-	5	760	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	NTRK3_uc002bmh.2_Missense_Mutation_p.L152F|NTRK3_uc002bmf.2_Missense_Mutation_p.L152F|NTRK3_uc021sua.1_Missense_Mutation_p.L152F|NTRK3_uc010upl.1_Missense_Mutation_p.L54F|NTRK3_uc010bnh.1_Missense_Mutation_p.L152F|NTRK3_uc002bmg.3_Missense_Mutation_p.L152F	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	152					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L152I(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AATTCCCGAAGACTCAGCGTC	0.478000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				61			19		0	0	1	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152235965	152235965	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152235965C>T	uc002txk.3	+	5	827	c.752C>T	c.(751-753)tCc>tTc	p.S251F	FW340097_uc021vqy.1_5'Flank	NM_007115	NP_009046	P98066	TSG6_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 6 (TNFAIP6), mRNA.	251					cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		GATCCTGTATCCAAATCCAGT	0.353000														123			36		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620138	7620138	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:7620138C>T	uc003bqm.2	+	7	1819	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.V515V|GRM7_uc003bql.2_Silent_p.V515V|GRM7_uc003bqn.1_Silent_p.V98V|GRM7_uc010hch.1_Silent_p.V26V	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	515					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GTAAAGGAGTCCGAGAGATAC	0.463000														55			18		0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26517322	26517322	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26517322G>A	uc010oez.2	+	0	204	c.204G>A	c.(202-204)acG>acA	p.T68T	CATSPER4_uc010oey.1_5'UTR|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	68					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAAATCACGAACAAAGCGG	0.602000														6			9		0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17675575	17675575	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:17675575G>A	uc003ncd.1	-	3	808	c.608C>T	c.(607-609)tCa>tTa	p.S203L	NUP153_uc011dje.1_Missense_Mutation_p.S203L|NUP153_uc010jpl.1_Missense_Mutation_p.S203L	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	203					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AGGTGGCAATGAAGTGTTCTT	0.368000														56			30		0	0	1	0	0
ATF2	1386	broad.mit.edu	37	2	175939542	175939542	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:175939542G>A	uc002ujl.3	-	13	1575	c.1313C>T	c.(1312-1314)tCa>tTa	p.S438L	ATF2_uc002ujv.3_Missense_Mutation_p.S185L|ATF2_uc002ujm.3_Missense_Mutation_p.S380L|ATF2_uc002uju.3_Non-coding_Transcript|ATF2_uc002ujn.3_Non-coding_Transcript|ATF2_uc002ujo.3_Missense_Mutation_p.S77L|ATF2_uc002ujp.3_Non-coding_Transcript|ATF2_uc002ujq.3_Missense_Mutation_p.S438L|ATF2_uc010fqu.3_Missense_Mutation_p.S420L|ATF2_uc002ujr.3_Non-coding_Transcript|ATF2_uc002ujs.3_Missense_Mutation_p.S380L|ATF2_uc002ujt.3_Non-coding_Transcript|ATF2_uc010fqv.3_Missense_Mutation_p.S389L|ATF2_uc002ujw.1_3'UTR|ATF2_uc002ujx.1_Non-coding_Transcript|AF283776_uc002ujk.3_5'Flank	NM_001880	NP_001871	P15336	ATF2_HUMAN	Homo sapiens activating transcription factor 2 (ATF2), transcript variant 1, mRNA.	438					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding 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	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			AATGTCTTCTGAACTATCATC	0.418000														52			17		0	0	1	0	0
ALOX5AP	241	broad.mit.edu	37	13	31309784	31309784	+	Silent	SNP	C	T	T	rs11542984	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:31309784C>T	uc010tdr.2	+	1	461	c.213C>T	c.(211-213)atC>atT	p.I71I	ALOX5AP_uc001utf.2_Silent_p.I14I	NM_001204406	NP_001191335	P20292	AL5AP_HUMAN	Homo sapiens arachidonate 5-lipoxygenase-activating protein (ALOX5AP), transcript variant 2, mRNA.	14					cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		TGTTGGCCATCGTCACCCTCA	0.517000														38			15		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921933	24921933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24921933C>T	uc001ywo.3	+	0	1393	c.919C>T	c.(919-921)Cct>Tct	p.P307S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	307	Pro-rich.				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)		TGATGAGAAGCCTTTCTGTAT	0.587000														78			25		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401587	77401587	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:77401587G>A	uc002ffc.4	-	3	948	c.529C>T	c.(529-531)Ctc>Ttc	p.L177F	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.	177					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						GGCGAGATGAGGAATTCATTT	0.468000														80			22		0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22312906	22312906	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22312906G>A	uc002zvs.3	-	16	2500	c.2065C>T	c.(2065-2067)Ccc>Tcc	p.P689S	TOP3B_uc010gtm.2_Missense_Mutation_p.P234S|TOP3B_uc002zvt.4_Missense_Mutation_p.P689S|TOP3B_uc010gtl.3_Missense_Mutation_p.P689S	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	689					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TAGCAGTAGGGGCACAGCGGG	0.587000														98			25		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11364849	11364849	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:11364849G>A	uc003jfa.1	-	7	1476	c.1331C>T	c.(1330-1332)cCt>cTt	p.P444L	CTNND2_uc010itt.2_Missense_Mutation_p.P353L|CTNND2_uc011cmy.1_Missense_Mutation_p.P107L|CTNND2_uc011cmz.1_Missense_Mutation_p.P11L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.P11L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	444					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.D443fs*113(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGCGGCAGAGGGTCCCCCTG	0.642000														26			14		0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68396094	68396094	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:68396094C>T	uc003xxq.4	-	8	1004	c.748_splice	c.e8-1	p.D250_splice	CPA6_uc003xxr.4_Splice_Site_p.D102_splice|CPA6_uc003xxs.2_Intron	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	250					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AAAATCGATCCTAGACATAAT	0.398000														154			48		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296878	29296878	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29296878C>T	uc002rmt.2	-	0	250	c.250G>A	c.(250-252)Ggc>Agc	p.G84S		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	84					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTCCTTTTGCCTGAAGCAGGA	0.507000														165			17		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31391694	31391694	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31391694C>T	uc002ebt.3	+	26	3235	c.3168C>T	c.(3166-3168)gtC>gtT	p.V1056V	ITGAX_uc002ebu.1_Silent_p.V1056V	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	1056					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TTGGCTGGGTCCGCCAGGTGT	0.647000														19			6		0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20387405	20387405	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20387405G>A	uc002dhc.1	-	3	751	c.528C>T	c.(526-528)atC>atT	p.I176I		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	176					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGAAGCCAACGATGACCAAGG	0.522000														45			15		0	0	1	0	0
PRIMA1	145270	broad.mit.edu	37	14	94187839	94187839	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94187839C>T	uc001ybw.1	-	4	455	c.413G>A	c.(412-414)aGt>aAt	p.S138N	PRIMA1_uc001ybx.1_Non-coding_Transcript	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN	Homo sapiens proline rich membrane anchor 1 (PRIMA1), mRNA.	138					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		CTGCGAAGCACTCATGGGATA	0.582000														54			11		0	0	1	0	0
CD14	929	broad.mit.edu	37	5	140011718	140011718	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140011718G>A	uc003lgi.2	-	1	1230	c.851C>T	c.(850-852)tCg>tTg	p.S284L	CD14_uc003lgj.2_Missense_Mutation_p.S284L|CD14_uc021yej.1_Missense_Mutation_p.S284L|CD14_uc021yek.1_Missense_Mutation_p.S284L|CD14_uc021yel.1_Missense_Mutation_p.S153L	NM_000591	NP_001167576	P08571	CD14_HUMAN	Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.	284					Toll signaling pathway|apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGCGAACGACAGATTGAG	0.617000														65			20		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96777479	96777479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:96777479G>A	uc001yfi.3	-	27	4501	c.4136C>T	c.(4135-4137)cCt>cTt	p.P1379L		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1379										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAAGGCTCCAGGCTTCATATC	0.448000														121			38		0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74134004	74134004	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74134004G>A	uc002jqx.3	-	2	1051	c.696C>T	c.(694-696)ccC>ccT	p.P232P	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	232					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GGACAGCGCTGGGCTCCTGCG	0.726000														7			3		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204944445	204944446	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204944445_204944446GG>AA	uc010prc.2	+	13	1835_1836	c.306_307GG>AA	c.(304-309)aggggc>agAAgc	p.G103S	NFASC_uc001hbh.3_Missense_Mutation_p.G536S|NFASC_uc010pqz.2_Missense_Mutation_p.G530S|NFASC_uc001hbj.3_Missense_Mutation_p.G536S|NFASC_uc010pra.2_Missense_Mutation_p.G547S|NFASC_uc001hbi.3_Missense_Mutation_p.G547S|NFASC_uc010prb.2_Missense_Mutation_p.G547S|NFASC_uc001hbk.1_Missense_Mutation_p.G357S			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	536	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGGCCAGAAGGGGCACCACGGT	0.624000											OREG0014142	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		104			47		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941923	52941923	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52941923C>T	uc002pzk.3	+	3	1316	c.1249C>T	c.(1249-1251)Cat>Tat	p.H417Y	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.H404Y	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TAGGAAAATTCATACTGGGGG	0.428000														6			3		0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23818459	23818459	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:23818459G>A	uc001rfw.3	-	6	952	c.850C>T	c.(850-852)Cct>Tct	p.P284S	SOX5_uc001rfx.3_Missense_Mutation_p.P271S|SOX5_uc001rfy.3_Missense_Mutation_p.P271S|SOX5_uc010siv.2_Missense_Mutation_p.P271S|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.P236S	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	284					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TGATCAGGAGGGAATACGGGA	0.493000														130			18		0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461685	50461685	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50461685G>A	uc010ybh.2	-	7	1597	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S	SIGLEC11_uc010ybi.2_Intron	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	502					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TGACCTCGAAGGAGCCCTGAC	0.697000														18			4		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41181551	41181551	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41181551G>A	uc003jmk.2	-	6	1047	c.837C>T	c.(835-837)ttC>ttT	p.F279F	C6_uc003jml.1_Silent_p.F279F	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	279	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				TTGGTACACTGAAAGAGCTCC	0.368000														78			38		0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27516588	27516588	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:27516588G>A	uc003xga.1	+	4	1042	c.901G>A	c.(901-903)Gta>Ata	p.V301I	SCARA3_uc003xgb.1_Missense_Mutation_p.V301I	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	301					UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GCACGACCTGGTACTCCAGGT	0.562000														42			20		0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876271	74876271	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:74876271G>A	uc001xpx.2	-	1	425	c.177C>T	c.(175-177)tcC>tcT	p.S59S		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA.	59					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CCAGCTGCAGGGACCCTGGGT	0.672000														28			8		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841197	13841197	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13841197C>T	uc003jfd.2	-	33	5569	c.5527G>A	c.(5527-5529)Gaa>Aaa	p.E1843K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1843	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)					AGGGCTTCTTCTGAATCCCGT	0.348000									Kartagener syndrome					57			31		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24411015	24411015	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24411015C>T	uc001bin.4	-	15	2076	c.1913G>A	c.(1912-1914)cGg>cAg	p.R638Q	MYOM3_uc001bim.4_Missense_Mutation_p.R295Q|MYOM3_uc001bio.3_Missense_Mutation_p.R638Q|MYOM3_uc001bip.1_Missense_Mutation_p.R295Q	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	638	Fibronectin type-III 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CCCCACCTTCCGGGAGTAGAT	0.512000														174			20		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	31086160	31086160	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:31086160C>T	uc009yjk.1	-	7	860	c.791G>A	c.(790-792)aGt>aAt	p.S264N	DCDC5_uc009yjl.1_Missense_Mutation_p.S192N|DCDC5_uc001msu.2_Missense_Mutation_p.S435N	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						GTTGCTGGCACTTTCTTGCAG	0.413000														36			33		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46825075	46825075	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46825075C>T	uc002peh.3	+	9	1218	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	HIF3A_uc002peg.4_Missense_Mutation_p.S396F|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.S340F|HIF3A_uc002pej.2_Missense_Mutation_p.S327F|HIF3A_uc010xxy.2_Missense_Mutation_p.S327F|HIF3A_uc002pel.3_Missense_Mutation_p.S394F|HIF3A_uc010xxz.2_Missense_Mutation_p.S345F	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CACCCGCCTTCCCTGAGCGAG	0.687000														101			21		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131519752	131519752	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:131519752C>T	uc021voy.1	+	0	107	c.107C>T	c.(106-108)cCc>cTc	p.P36L	FAM123C_uc002trw.2_Missense_Mutation_p.P36L|FAM123C_uc010fmv.2_Missense_Mutation_p.P36L|FAM123C_uc010fms.1_Missense_Mutation_p.P36L|FAM123C_uc010fmt.1_Missense_Mutation_p.P36L|FAM123C_uc010fmu.1_Missense_Mutation_p.P36L	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	36								p.G35G(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGGACAGGCCCCTGGTCAGTC	0.622000														10			3		0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44684449	44684449	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:44684449C>T	uc003cnm.3	+	5	2033	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	609					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGTCAAACTTCATTGACCATA	0.408000														53			30		0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100467173	100467173	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:100467173C>T	uc003duf.3	+	7	1186	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	TFG_uc003due.3_Missense_Mutation_p.S334F|TFG_uc003dug.3_Missense_Mutation_p.S330F|TFG_uc003dui.3_Missense_Mutation_p.S334F	NM_001007565	NP_006061	Q92734	TFG_HUMAN	Homo sapiens TRK-fused gene (TFG), transcript variant 2, mRNA.	334					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						GCCCAAACTTCTCAGCCTACT	0.522000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""									109			34		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460392	107460392	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:107460392G>A	uc002tdq.3	-	1	161	c.42C>T	c.(40-42)ttC>ttT	p.F14F	ST6GAL2_uc002tdr.3_Silent_p.F14F|ST6GAL2_uc002tds.3_Silent_p.F14F	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	14					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGAATATTCCGAAAAGCATTC	0.512000														55			23		0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98744436	98744436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98744436C>T	uc001kmv.3	+	0	3396	c.3289C>T	c.(3289-3291)Cct>Tct	p.P1097S		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	1097										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGGCAGCAGCCCTCCAGATAG	0.512000														58			9		0	0	1	0	0
FAM133A	286499	broad.mit.edu	37	X	92964424	92964424	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:92964424G>A	uc022bzw.1	+	2	443	c.6G>A	c.(4-6)ggG>ggA	p.G2G	FAM133A_uc022bzu.1_Silent_p.G2G|FAM133A_uc004efr.2_Silent_p.G2G|FAM133A_uc022bzv.1_Silent_p.G2G|FAM133A_uc022bzx.1_Silent_p.G2G	NM_001171111	NP_775969	Q8N9E0	F133A_HUMAN	Homo sapiens family with sequence similarity 133, member A (FAM133A), transcript variant 4, mRNA.	2										breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						GCACCATGGGGAAGCGGGATA	0.443000														14			11		0	0	1	0	0
FAM110B	90362	broad.mit.edu	37	8	59059522	59059522	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:59059522G>A	uc022auu.1	+	0	733	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	FAM110B_uc003xtj.1_Missense_Mutation_p.E245K	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	245						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CGACCCTGTGGAACCAGCTTG	0.607000														108			32		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42059249	42059249	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42059249C>T	uc010ucy.2	+	23	9150	c.8969C>T	c.(8968-8970)gCc>gTc	p.A2990V	MGA_uc010ucz.2_Missense_Mutation_p.A2781V	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2951						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CCAAAGTTGGCCCCTCTAGGT	0.512000														50			20		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219896315	219896315	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219896315G>A	uc002vjl.1	-	6	795	c.711C>T	c.(709-711)gcC>gcT	p.A237A	CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Silent_p.A226A|CCDC108_uc010zkq.1_Silent_p.A172A	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	237						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGCAGGGTGGCCCGTAGGC	0.607000														121			33		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271762	22271762	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22271762G>A	uc010ecx.3	+	3	1379	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	ZNF257_uc010ecy.3_Missense_Mutation_p.E372K	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CAAATGTGATGAATATTGCAA	0.393000														25			16		0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20073517	20073517	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:20073517C>T	uc002zri.3	+	1	460	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	DGCR8_uc010grz.3_Missense_Mutation_p.P11S|DGCR8_uc021wlp.1_5'Flank|DGCR8_uc002zrj.3_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	11	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	p.P11L(1)		NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CTCTCCGCTCCCGTGTGGGCC	0.557000														112			60		0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032413	55032413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55032413G>A	uc010rid.2	+	1	168	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	12						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTTCCAGAGGGAACTCACCTG	0.483000														67			89		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35806986	35806986	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35806986G>A	uc003jjo.3	+	34	5299	c.5188G>A	c.(5188-5190)Ggg>Agg	p.G1730R	SPEF2_uc003jjp.1_Missense_Mutation_p.G1216R|SPEF2_uc003jjr.3_Missense_Mutation_p.G785R	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1730					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTGTTCAAAGGGGGAAGTGA	0.393000														58			26		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42915959	42915959	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42915959C>T	uc003cmh.3	-	0	1675	c.1350G>A	c.(1348-1350)gtG>gtA	p.V450V	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	450					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)		TAAAGAGCTTCACCTCACTGA	0.537000														48			25		0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52563345	52563345	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52563345G>A	uc003den.3	-	1	278	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	NT5DC2_uc003dem.3_5'Flank|NT5DC2_uc010hmi.3_Silent_p.L80L|NT5DC2_uc010hmj.3_5'UTR|NT5DC2_uc003deo.3_Silent_p.L43L	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN	Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.	43							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TCGGGGGGCAGGAGGTCTAGA	0.587000														37			7		0	0	1	0	0
PAK4	10298	broad.mit.edu	37	19	39669068	39669068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39669068C>T	uc002okj.1	+	10	2086	c.1625C>T	c.(1624-1626)tCg>tTg	p.S542L	PAK4_uc002okl.1_Missense_Mutation_p.S542L|PAK4_uc002okn.1_Missense_Mutation_p.S542L|PAK4_uc002okm.1_Missense_Mutation_p.S389L|PAK4_uc002oko.1_Missense_Mutation_p.S389L|PAK4_uc002okp.1_Missense_Mutation_p.S452L	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	542	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	p.S542S(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CGACAGGTGTCGCCATCCCTG	0.672000														2			4		0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61187102	61187102	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:61187102G>A	uc001xfc.3	-	1	985	c.925C>T	c.(925-927)Cct>Tct	p.P309S	SIX4_uc010app.1_Missense_Mutation_p.P301S	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	309						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		AGTGGGTGAGGAGATAAATCC	0.458000														92			42		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34889177	34889177	+	Splice_Site	SNP	G	A	A	rs149024595		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:34889177G>A	uc003teh.1	+	10	1254	c.1126_splice	c.e10-1	p.G376_splice	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Splice_Site_p.R342_splice|NPSR1_uc010kwt.1_Splice_Site_p.R189_splice|NPSR1_uc010kwu.1_Splice_Site_p.R132_splice|NPSR1_uc010kwv.1_Splice_Site_p.R276_splice|NPSR1_uc003tei.1_Intron|NPSR1_uc010kww.1_Intron|NPSR1_uc011kar.1_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	0						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.R342R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTTTCTCCAGGGAGCAAAGAT	0.408000														86			27		0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13503904	13503904	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:13503904C>T	uc002gob.1	-	0	1341	c.543G>A	c.(541-543)gtG>gtA	p.V181V		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	181						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCTCGGCGCCCACGGCGCGCA	0.721000														7			3		0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147828	100147828	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:100147828C>T	uc003knk.3	-	4	1131	c.803G>A	c.(802-804)tGg>tAg	p.W268*		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	268					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GTTGGTCAGCCAGTAACTGGA	0.363000														64			19		0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2172905	2172905	+	Missense_Mutation	SNP	G	A	A	rs140423155		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:2172905G>A	uc003ger.2	-	9	1390	c.1378C>T	c.(1378-1380)Cgt>Tgt	p.R460C	POLN_uc010ich.1_Missense_Mutation_p.R51C|POLN_uc011bvi.1_Missense_Mutation_p.R460C	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	460					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TCCTTGAGACGAGCCTGAAAA	0.363000								DNA polymerases (catalytic subunits)						62			29		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25284986	25284986	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25284986C>T	uc010aaa.3	+	20	3305	c.2972C>T	c.(2971-2973)tCc>tTc	p.S991F	ATP12A_uc001upp.3_Missense_Mutation_p.S985F	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	985					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CTGATCCTCTCCTATGGCCTC	0.498000														41			26		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27167606	27167606	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27167606G>A	uc002rhu.4	+	11	1681	c.1523G>A	c.(1522-1524)gGa>gAa	p.G508E	DPYSL5_uc002rhv.4_Missense_Mutation_p.G508E|DPYSL5_uc021vev.1_Missense_Mutation_p.G508E	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	508					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGAGATGGGAACCCCACTC	0.582000														95			31		0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1115683	1115683	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1115683C>T	uc001acy.2	+	5	620	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	AK128833_uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Missense_Mutation_p.P157S|TTLL10_uc001acz.2_Missense_Mutation_p.P84S	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	157	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCGGCCGGGGCCCTTCTTCTA	0.697000														12			4		0	0	1	0	0
DOK2	9046	broad.mit.edu	37	8	21766932	21766932	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:21766932C>T	uc003wzx.1	-	4	1222	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	DOK2_uc003wzy.1_Missense_Mutation_p.D377N|DOK2_uc003wzz.1_Missense_Mutation_p.D223N|DOK2_uc010lth.1_Missense_Mutation_p.D223N	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	377					blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CCAGCAGGGTCCCTGTCAGCT	0.607000														63			25		0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183907661	183907661	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183907661C>T	uc003fmz.2	+	13	1466	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	ABCF3_uc003fna.2_Missense_Mutation_p.R439C|ABCF3_uc003fnb.2_Missense_Mutation_p.R126C	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	445							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGACCGGTTTCGCTACAATGC	0.557000														61			12		0	0	1	0	0
TRA	0	broad.mit.edu	37	14	22192542	22192542	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22192542C>T	uc021rpa.1	+	1	445	c.317C>T	c.(316-318)gCt>gTt	p.A106V	TRA_uc001wbn.2_Non-coding_Transcript|TRA_uc021rpb.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36.																		AGCGACTCCGCTTTGTACTTC	0.478000														27			17		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75818801	75818801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:75818801C>T	uc021zbv.1	-	50	8068	c.8033G>A	c.(8032-8034)gGa>gAa	p.G2678E	COL12A1_uc021zbw.1_Missense_Mutation_p.G1514E|COL12A1_uc003phs.3_Missense_Mutation_p.G2678E|COL12A1_uc003pht.3_Missense_Mutation_p.G1514E	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2678	Nonhelical region (NC3).|TSP N-terminal.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.G2678V(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGTTATATTTCCAGCTTCCTT	0.323000														72			6		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137712030	137712030	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:137712030C>T	uc004cfe.3	+	57	4897	c.4515C>T	c.(4513-4515)ctC>ctT	p.L1505L	BC058547_uc004cff.3_Non-coding_Transcript	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1505	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACCGTGGTCTCCCTGGCCCCC	0.602000														53			20		0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91469768	91469768	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:91469768C>T	uc001kgs.1	+	4	508	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	KIF20B_uc001kgr.1_Missense_Mutation_p.R146C	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	146	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGGACAGAGTCGTCTGATTTT	0.353000														105			58		0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45355503	45355503	+	Splice_Site	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:45355503T>G	uc002xsl.3	+	3	1386	c.1289_splice	c.e3-1	p.V430_splice		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	430						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CCCACCCTAGTGACCTGGCTT	0.577000														131			28		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585815	179585815	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179585815C>T	uc021vsy.1	-	75	19424	c.19199G>A	c.(19198-19200)cGa>cAa	p.R6400Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3061Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7327	Ig-like 45.						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)			GCTGTCATTTCGGAACCATGA	0.393000														92			22		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73484038	73484039	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73484038_73484039CC>TT	uc010wsa.2	+	4	657_658	c.465_466CC>TT	c.(463-468)atccag>atTTag	p.Q156*	KIAA0195_uc002jnz.4_Nonsense_Mutation_p.Q146*|KIAA0195_uc010wsb.2_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	146					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGGGAGATCCAGTGGCCCAG	0.599000														49			14		0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105645016	105645016	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:105645016C>T	uc003vdl.4	+	7	1043	c.935C>T	c.(934-936)tCc>tTc	p.S312F	CDHR3_uc003vdk.3_5'UTR|CDHR3_uc011kls.1_Non-coding_Transcript|CDHR3_uc003vdm.4_Missense_Mutation_p.S299F|CDHR3_uc011klt.2_Missense_Mutation_p.S224F|CDHR3_uc003vdn.3_Missense_Mutation_p.S29F	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	312	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCCACCATTTCCCTGGAAGTT	0.483000														33			11		0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88767368	88767368	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:88767368G>A	uc021xpx.1	+	3	1453	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	MEPE_uc021xpu.1_Missense_Mutation_p.E450K|MEPE_uc021xpv.1_Missense_Mutation_p.E337K|MEPE_uc021xpw.1_Missense_Mutation_p.E337K|MEPE_uc010ikn.3_Missense_Mutation_p.E337K|MEPE_uc003hqy.3_Missense_Mutation_p.E450K|MEPE_uc021xpy.1_Missense_Mutation_p.E337K	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	450					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.R481Q(1)|p.R481L(1)		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)		AATCAAAAACGAAATGGATTC	0.378000														64			13		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170115597	170115597	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170115597C>T	uc002ues.3	-	16	2664	c.2451G>A	c.(2449-2451)acG>acA	p.T817T	LRP2_uc010zdf.1_Silent_p.T680T	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	817					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTGTGCGTCTCGTTTTATCAG	0.393000														138			64		0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239489	21239489	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21239489C>T	uc010mis.3	-	0	490	c.446G>A	c.(445-447)aGa>aAa	p.R149K	IFNA14_uc003zoo.1_Non-coding_Transcript	NM_002172	NP_002163	P01570	IFN14_HUMAN	Homo sapiens interferon, alpha 14 (IFNA14), mRNA.	149					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AAGAGTGATTCTTTGGAAGTA	0.458000														307			136		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37153991	37153991	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:37153991G>A	uc011cpa.1	-	40	8293	c.8062C>T	c.(8062-8064)Cct>Tct	p.P2688S	C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Missense_Mutation_p.P1206S|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P1781S	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2688										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTTGGTGCAGGGCAAGCTGCA	0.468000														79			17		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147985774	147985774	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:147985774G>A	uc004fcp.3	+	8	1862	c.1383G>A	c.(1381-1383)agG>agA	p.R461R	AFF2_uc004fco.3_Silent_p.R422R|AFF2_uc004fcq.3_Silent_p.R451R|AFF2_uc004fcr.3_Silent_p.R422R|AFF2_uc011mxb.2_Silent_p.R426R|AFF2_uc004fcs.3_Silent_p.R428R|AFF2_uc011mxc.2_Silent_p.R102R	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	461					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAACCTAGGAATAATCCTG	0.323000														37			69		0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141292000	141292000	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:141292000C>T	uc010huq.1	+	12	1296	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	RASA2_uc003etz.1_Silent_p.S432S|RASA2_uc003eua.1_Silent_p.S432S|RASA2_uc011bnc.1_Silent_p.S24S	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	432	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TATGTGACTCCTCAAAATCCT	0.229000														61			6		0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679494	160679494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:160679494C>T	uc003qtf.3	-	0	470	c.296G>A	c.(295-297)aGc>aAc	p.S99N	SLC22A2_uc003qth.2_Missense_Mutation_p.S99N	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	99					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GTCGAAGGTGCTCTGGTTCCA	0.677000														39			32		0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54656240	54656240	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54656240C>T	uc002qdj.2	+	14	2105	c.1781C>T	c.(1780-1782)cCg>cTg	p.P594L	CNOT3_uc010yel.2_Missense_Mutation_p.P594L|CNOT3_uc002qdi.3_Missense_Mutation_p.P507L|CNOT3_uc002qdk.2_Missense_Mutation_p.P594L|CNOT3_uc010ere.2_Non-coding_Transcript	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	594	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTGAACATACCGCTGTCGCTG	0.652000														94			16		0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104125158	104125158	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104125158T>A	uc010mtd.3	-	3	918	c.809A>T	c.(808-810)tAt>tTt	p.Y270F	BAAT_uc004bbd.4_Missense_Mutation_p.Y270F	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	270					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CTGACCATGATATACCTGTGG	0.438000														59			29		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108013935	108013935	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:108013935G>A	uc001tmk.1	+	10	3146	c.2625G>A	c.(2623-2625)gcG>gcA	p.A875A	BTBD11_uc009zut.1_Silent_p.A756A|BTBD11_uc001tmj.3_Silent_p.A875A|BTBD11_uc001tml.1_Silent_p.A412A	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	875						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCTGAAAGCGAGCAAGGTAT	0.507000														77			9		0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55277720	55277720	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55277720G>A	uc001cyb.4	+	6	673	c.619_splice	c.e6-1	p.G207_splice	C1orf177_uc001cya.4_Splice_Site_p.G207_splice	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	207										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GTGCTCTAGGGGAGTGGTCTG	0.627000														119			25		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123279501	123279501	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:123279501C>T	uc021pzz.1	-	6	1578	c.931G>A	c.(931-933)Gtt>Att	p.V311I	FGFR2_uc021pzv.1_Intron|FGFR2_uc021pzw.1_Missense_Mutation_p.V196I|FGFR2_uc021pzx.1_Missense_Mutation_p.V222I|FGFR2_uc021pzy.1_Missense_Mutation_p.V311I|FGFR2_uc010qtl.2_Missense_Mutation_p.V311I|FGFR2_uc010qtm.2_Missense_Mutation_p.V196I|FGFR2_uc021qaa.1_Missense_Mutation_p.V311I|FGFR2_uc021qab.1_Missense_Mutation_p.V222I|FGFR2_uc021qac.1_Missense_Mutation_p.V241I|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.V330I|FGFR2_uc010qto.2_Missense_Mutation_p.V215I|FGFR2_uc001lfo.1_Missense_Mutation_p.V330I|FGFR2_uc010qtp.2_Missense_Mutation_p.V330I|FGFR2_uc001lfg.4_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	311	Ig-like C2-type 3.				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	p.K310R(2)		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)	ACCTTGAGAACCTTGAGGTAG	0.522000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					60			29		0	0	1	0	0
SPOCK2	9806	broad.mit.edu	37	10	73822580	73822580	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73822580C>T	uc001jso.2	-	10	1658	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	ANAPC16_uc021psn.1_Intron|SPOCK2_uc001jsp.3_Missense_Mutation_p.E405K	NM_001244950	NP_001231879	Q92563	TICN2_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 (SPOCK2), transcript variant 3, mRNA.	405	Glu-rich.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						tcggcctcctcgcctgcttcc	0.662000														21			7		0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102508940	102508940	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:102508940C>T	uc003kod.4	+	19	2887	c.2368C>T	c.(2368-2370)Ctt>Ttt	p.L790F	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.L790F|PPIP5K2_uc003kof.3_Missense_Mutation_p.L91F	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	790					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCGCTCAGACCTTCAGAGGAC	0.363000														54			29		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960931	51960931	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51960931G>A	uc002pwt.3	-	1	584	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	173	Ig-like C2-type 1.				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)		GAGCAGGTCAGGTTCCTGGAG	0.627000														101			30		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62041900	62041900	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62041900C>T	uc002jds.1	-	8	1457	c.1380G>A	c.(1378-1380)gaG>gaA	p.E460E		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	460					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCTCCTTATCCTCGGCCAGGG	0.532000														41			13		0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37904945	37904945	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:37904945C>T	uc002ogj.3	-	8	1619	c.687G>A	c.(685-687)ctG>ctA	p.L229L	ZNF569_uc002ogh.3_Silent_p.L46L|ZNF569_uc002ogi.3_Silent_p.L205L	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGAATTCTCAGATGTCTGA	0.363000														72			27		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11765357	11765357	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:11765357C>T	uc002rbk.1	+	23	4525	c.4225C>T	c.(4225-4227)Ccc>Tcc	p.P1409S	GREB1_uc002rbp.1_Missense_Mutation_p.P407S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1409						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAAGAAGTTGCCCTTTGACTA	0.463000														262			104		0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143993426	143993426	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:143993426G>A	uc003yxk.1	-	8	1485	c.1482C>T	c.(1480-1482)tcC>tcT	p.S494S		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	494					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			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)	TGAGGAGGGGGGACGTGCCAG	0.567000									Familial Hyperaldosteronism type I					57			24		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739651	62739651	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62739651C>T	uc001dah.4	-	2	1502	c.1125G>A	c.(1123-1125)gaG>gaA	p.E375E	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	375										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTTTGATTTCCTCTTCCTGCT	0.542000														101			33		0	0	1	0	0
OR2A7	401427	broad.mit.edu	37	7	143955944	143955944	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143955944C>T	uc011kuc.2	-	0	778	c.778G>A	c.(778-780)Gga>Aga	p.G260R	OR2A9P_uc003wec.1_Intron|OR2A9P_uc003wed.3_5'Flank	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					TATCTGGGTCCAACATACATG	0.463000														176			20		0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	420330	420330	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:420330G>A	uc003gae.3	-	4	1111	c.576C>T	c.(574-576)ttC>ttT	p.F192F	ABCA11P_uc003gac.2_Silent_p.F141F|ABCA11P_uc003gad.2_Non-coding_Transcript|ABCA11P_uc011buv.2_3'UTR|ABCA11P_uc010ibd.2_Silent_p.F192F					Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene (ABCA11P), non-coding RNA.																		CAGTACCCAAGAACTTGAGGC	0.488000														77			31		0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183096487	183096487	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:183096487C>T	uc001gpy.4	+	16	3328	c.3071C>T	c.(3070-3072)tCt>tTt	p.S1024F		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	1024	Laminin EGF-like 11.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACAATCGGTCTTGGCCTGGC	0.463000														70			29		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086942	100086942	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100086942C>T	uc003uvd.1	+	3	1757	c.1598C>T	c.(1597-1599)tCc>tTc	p.S533F	NYAP1_uc003uve.1_Missense_Mutation_p.S315F	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	533																	TGCCTGGCCTCCCCCCACAGC	0.697000														8			8		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94674868	94674868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94674868C>T	uc001dqj.4	-	3	748	c.379G>A	c.(379-381)Gat>Aat	p.D127N	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.D127N	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	127					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TGGAAGAGATCGTTTTTGTTT	0.323000														47			13		0	0	1	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77040010	77040010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:77040010C>T	uc002jwt.3	+	0	336	c.254C>T	c.(253-255)cCt>cTt	p.P85L	C1QTNF1_uc002jwp.3_Intron|C1QTNF1_uc002jwq.3_Intron|C1QTNF1_uc002jwr.4_Intron|C1QTNF1_uc002jws.3_Intron	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.	90						collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AACTCGGTGCCTTCCCTGTGT	0.592000														56			16		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6832146	6832146	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6832146C>T	uc002mfu.1	+	14	1540	c.1443C>T	c.(1441-1443)ggC>ggT	p.G481G	VAV1_uc010xjh.1_Silent_p.G449G|VAV1_uc010dva.1_Silent_p.G481G|VAV1_uc002mfv.1_Silent_p.G426G	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	481	PH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTGCCCAGGGCTATGAGCTGT	0.557000														35			17		0	0	1	0	0
CDC25A	993	broad.mit.edu	37	3	48209415	48209415	+	Missense_Mutation	SNP	G	A	A	rs141219026	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48209415G>A	uc003csh.1	-	9	1314	c.950C>T	c.(949-951)tCc>tTc	p.S317F	CDC25A_uc003csi.1_Missense_Mutation_p.S277F|CDC25A_uc021wxk.1_Missense_Mutation_p.S276F	NM_001789	NP_001780	P30304	MPIP1_HUMAN	Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA.	317					DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	p.S317S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		AGATGCCAGGGATAAAGACTG	0.443000														44			15		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932503	83932503	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83932503C>T	uc002bjt.1	-	3	1588	c.1500G>A	c.(1498-1500)gaG>gaA	p.E500E	BNC1_uc010uos.1_Silent_p.E488E	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	500					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGTTTGCTACCTCGGCAGGCG	0.527000														62			33		0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8610502	8610502	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8610502G>A	uc001qum.1	+	1	157	c.40G>A	c.(40-42)Ggc>Agc	p.G14S		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA.	14					defense response to fungus|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine secretion	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					AGAGAAAAGAGGCTGGTTGTC	0.483000														51			16		0	0	1	0	0
INTS4L1	285905	broad.mit.edu	37	7	64639830	64639830	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:64639830C>T	uc003ttw.3	+	4		c.713C>T								Homo sapiens integrator complex subunit 4-like 1 (INTS4L1), non-coding RNA.																		CTAACAACATCACCCTCCGAG	0.473000														96			14		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936779	15936779	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:15936779G>A	uc003jfn.1	+	3	1441	c.960G>A	c.(958-960)gtG>gtA	p.V320V		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	320					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.L319L(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTACCTGGTGATCTACTGCG	0.672000														25			8		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614464	3614464	+	Silent	SNP	G	A	A	rs150523532	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3614464G>A	uc010btn.3	-	4	885	c.474C>T	c.(472-474)ttC>ttT	p.F158F		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	158	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAGGCGGACGAAGTGCCTCA	0.657000														32			10		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176675568	176675568	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176675568G>A	uc001gkz.3	+	9	4603	c.3439G>A	c.(3439-3441)Gaa>Aaa	p.E1147K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1147					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGAGCTGGAGGAAGGTTTCAA	0.413000														48			16		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446683	226446683	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:226446683G>A	uc002voe.2	+	3	725	c.550G>A	c.(550-552)Gat>Aat	p.D184N	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	184																	ACCCCACAGCGATGAATATTC	0.413000														213			17		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40045876	40045876	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:40045876C>T	uc003ayc.3	+	9	1938	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	CACNA1I_uc003ayd.3_Silent_p.I611I|CACNA1I_uc003aye.3_Silent_p.I561I|CACNA1I_uc003ayf.3_Silent_p.I526I	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	646					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACCGGGGCATCATGATGGCCA	0.677000														33			9		0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87018049	87018049	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:87018049G>A	uc003dqn.3	-	2	992	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GATGTCAAAGGATAAGGCCAG	0.602000														123			21		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128477162	128477162	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:128477162G>A	uc002tpg.2	-	15	2636	c.2437C>T	c.(2437-2439)Cct>Tct	p.P813S		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	813					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGAGGGTGAGGTCCTCTCATC	0.617000														40			12		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111693359	111693359	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:111693359G>A	uc010hqa.3	+	17	4122	c.3711G>A	c.(3709-3711)tgG>tgA	p.W1237*	PHLDB2_uc003dyc.3_Nonsense_Mutation_p.W1221*|PHLDB2_uc003dyd.3_Nonsense_Mutation_p.W1194*|PHLDB2_uc003dyg.3_Nonsense_Mutation_p.W1237*|PHLDB2_uc003dyh.3_Nonsense_Mutation_p.W1194*|PHLDB2_uc003dyi.3_Nonsense_Mutation_p.W728*|PHLDB2_uc003dyj.3_Nonsense_Mutation_p.W292*	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	1237	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGCGGATCTGGATGGATGTTA	0.453000														151			14		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873264	36873265	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36873264_36873265GG>AA	uc003cgj.3	-	20	7925_7926	c.7677_7678CC>TT	c.(7675-7680)tgccct>tgTTct	p.P2560S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2560					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACCTGGCCAGGGCAGTCCATGC	0.569000														71			26		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905885	164905885	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:164905885C>T	uc003fej.4	-	1	3178	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	SLITRK3_uc003fek.3_Missense_Mutation_p.E912K|SLITRK3_uc021xgy.1_Missense_Mutation_p.E912K	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	912						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ACGTGCAGTTCCTTTAATTTG	0.532000										HNSCC(40;0.11)				80			30		0	0	1	0	0
PYGO1	26108	broad.mit.edu	37	15	55839341	55839341	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:55839341G>A	uc002adf.1	-	2	140	c.140C>T	c.(139-141)cCt>cTt	p.P47L	PYGO1_uc010bfl.1_Missense_Mutation_p.P47L	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.	47	Pro-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		AGGGAAAGAAGGTCCCTGAAA	0.363000														60			10		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8698473	8698473	+	Silent	SNP	C	T	T	rs145869401	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:8698473C>T	uc002wnb.3	+	13	1494	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	PLCB1_uc010zrb.1_Silent_p.F396F|PLCB1_uc002wna.3_Silent_p.F497F|PLCB1_uc002wnc.1_Silent_p.F396F|PLCB1_uc002wnd.1_Silent_p.F74F	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	497					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	p.M496I(1)		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						CCAGCATGTTCGAGCCCTCAT	0.522000														43			13		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68702871	68702871	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:68702871C>T	uc001ook.1	+	11	1839	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F	IGHMBP2_uc001ool.1_Silent_p.F203F|IGHMBP2_uc001oom.1_Silent_p.F157F	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	579					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TACTGTCCTTCGTCAGATCCA	0.537000														70			9		0	0	1	0	0
ZNF136	7695	broad.mit.edu	37	19	12297482	12297482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12297482C>T	uc002mti.3	+	3	436	c.289C>T	c.(289-291)Cct>Tct	p.P97S	ZNF136_uc010xmh.2_Missense_Mutation_p.P31S	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	97					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CAAGAAAATCCCTGGAGTGAA	0.403000														73			23		0	0	1	0	0
GLS	2744	broad.mit.edu	37	2	191795172	191795172	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:191795172C>T	uc002usf.2	+	12	1699	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S	GLS_uc002use.2_Missense_Mutation_p.P479S|GLS_uc002usg.1_Missense_Mutation_p.P140S|GLS_uc002ush.2_Missense_Mutation_p.P140S|GLS_uc010zgi.1_Missense_Mutation_p.P50S|GLS_uc010zgj.1_5'UTR|GLS_uc021vud.1_5'Flank	NM_014905	NP_055720	O94925	GLSK_HUMAN	Homo sapiens glutaminase (GLS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	479					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGTTGGTCTTCCTGCAAAATC	0.408000														67			15		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133748382	133748382	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:133748382C>T	uc004bzw.3	+	5	1046	c.1043C>T	c.(1042-1044)tCg>tTg	p.S348L	ABL1_uc004bzv.3_Missense_Mutation_p.S367L	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	348	Protein kinase.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	ACTCAGATCTCGTCAGCCATG	0.607000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									52			7		0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11052823	11052823	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:11052823G>A	uc002rax.3	+	0	761	c.271G>A	c.(271-273)Gag>Aag	p.E91K		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	91						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GTGTGTCATCGAGGTGTACTA	0.562000														40			19		0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1079966	1079966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:1079966G>A	uc002lqz.1	+	12	1783	c.1552G>A	c.(1552-1554)Gcg>Acg	p.A518T	HMHA1_uc010xgd.1_Missense_Mutation_p.A534T|HMHA1_uc010xge.1_Missense_Mutation_p.A358T|HMHA1_uc002lra.1_Missense_Mutation_p.A358T|HMHA1_uc002lrb.1_Missense_Mutation_p.A401T|HMHA1_uc002lrc.1_Missense_Mutation_p.A153T	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	518					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		TATGCAGACGGCGCCGCTGCC	0.672000														105			52		0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	57002771	57002771	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57002771G>A	uc001cyj.2	-	1	721	c.153C>T	c.(151-153)ttC>ttT	p.F51F		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	51					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CGATGATGAGGAAGGGGAGGC	0.458000														74			20		0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405287	68405287	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:68405287C>T	uc002ewa.3	-	2	1220	c.798G>A	c.(796-798)caG>caA	p.Q266Q	SMPD3_uc010cfe.3_Silent_p.Q266Q|SMPD3_uc010vlh.2_Silent_p.Q266Q	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	266					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CGTTCCTGGCCTGGCCCCCAG	0.716000														30			4		0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764629	110764629	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:110764629A>G	uc003vft.4	+	3	2847	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.K601E|LRRN3_uc003vfs.4_Missense_Mutation_p.K601E|LRRN3_uc022akc.1_Missense_Mutation_p.K601E	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	601	Fibronectin type-III.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CATCTATCAGAAAAACAGAAA	0.348000														58			5		0	0	1	0	0
C10orf81	79949	broad.mit.edu	37	10	115526413	115526413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115526413G>A	uc001lat.2	+	2	704	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	C10orf81_uc009xyc.2_5'UTR|C10orf81_uc001lar.2_Missense_Mutation_p.E54K|C10orf81_uc001las.2_Intron	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	48	PH.							p.I48I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		AAAGGCTGGGGAAAAGAGCTT	0.338000														80			42		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6946681	6946681	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6946681C>T	uc001qra.1	+	11	1686	c.1652C>T	c.(1651-1653)cCg>cTg	p.P551L	GPR162_uc001qrb.1_Missense_Mutation_p.P359L	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						TACTTCTCCCCGGAACGGCCC	0.657000														14			5		0	0	1	0	0
GTPBP3	84705	broad.mit.edu	37	19	17452296	17452296	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17452296C>T	uc002ngg.4	+	7	1454	c.1359C>T	c.(1357-1359)gaC>gaT	p.D453D	GTPBP3_uc010xpo.2_Silent_p.D443D|GTPBP3_uc010eas.3_Silent_p.D421D|GTPBP3_uc002ngh.4_Silent_p.D400D	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	421					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GGTGTGGGGACCCGTCCACAG	0.557000														64			21		0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5172952	5172952	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5172952G>A	uc010qyy.2	-	0	648	c.648C>T	c.(646-648)ttC>ttT	p.F216F		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	216					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAATGTGATGAATGTGAGGT	0.413000														99			48		0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12819318	12819318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12819318C>T	uc001auh.3	+	2	517	c.301C>T	c.(301-303)Cat>Tat	p.H101Y	C1orf158_uc010obe.1_Missense_Mutation_p.H101Y	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA.	101										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTATGACGACCATTACAACCG	0.567000														166			74		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196723513	196723513	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196723513C>T	uc002utj.4	-	42	7853	c.7752G>A	c.(7750-7752)atG>atA	p.M2584I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2584	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCTCTTTTTCATTTTCATTA	0.368000														118			38		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21235332	21235332	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21235332G>A	uc002red.3	-	25	4536	c.4408C>T	c.(4408-4410)Cat>Tat	p.H1470Y		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1470					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.H1470Q(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)	GAGTCCAAATGAACTGAAGCA	0.403000														80			26		0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60476093	60476093	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:60476093G>A	uc001czs.2	-	8	1271	c.1163C>T	c.(1162-1164)tCt>tTt	p.S388F	C1orf87_uc001czr.1_5'Flank	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	388							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CAAATCAGAAGAAGCTCTGGT	0.388000														72			32		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167689675	167689675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:167689675G>A	uc010jjd.3	+	28	8158	c.8158G>A	c.(8158-8160)Gag>Aag	p.E2720K	ODZ2_uc003lzr.4_Missense_Mutation_p.E2490K|ODZ2_uc003lzt.4_Missense_Mutation_p.E2093K|ODZ2_uc010jje.3_Missense_Mutation_p.E1984K	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)		GACTGAGGGCGAGAAGCAGCA	0.642000														13			4		0	0	1	0	0
C14orf135	64430	broad.mit.edu	37	14	60591609	60591609	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:60591609C>T	uc001xer.4	+	7	2540	c.2018C>T	c.(2017-2019)tCt>tTt	p.S673F	C14orf135_uc001xeq.2_Missense_Mutation_p.S673F|C14orf135_uc010apm.3_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	907						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		TGTTCACATTCTCACTTAGTA	0.423000														167			11		0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166536025	166536025	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166536025C>T	uc002udf.3	+	6	1896	c.1520C>T	c.(1519-1521)tCc>tTc	p.S507F	CSRNP3_uc002udg.3_Missense_Mutation_p.S507F	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	507					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGCTCCTCTTCCGAAAATGAT	0.512000														49			19		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41710281	41710281	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41710281C>T	uc002yyq.1	-	7	1982	c.1530G>A	c.(1528-1530)atG>atA	p.M510I	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	510	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGATGTTTTTCATTGGTCGAA	0.418000														52			13		0	0	1	0	0
TPST2	8459	broad.mit.edu	37	22	26937530	26937530	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26937530G>A	uc003acw.3	-	2	408	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	TPST2_uc003acx.3_Nonsense_Mutation_p.Q23*|TPST2_uc011akf.1_Nonsense_Mutation_p.Q23*	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	23					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TGTCCCAGCTGAACCGCCAGC	0.741000														18			3		0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61468560	61468560	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61468560C>T	uc002ydm.3	+	29	1732	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	COL9A3_uc002ydn.3_Nonsense_Mutation_p.R71*	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	577	Triple-helical region 2 (COL2).				axon guidance	collagen type IX		p.R577Q(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCCTGGCGCTCGAGGACCCCC	0.672000														90			44		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3678588	3678588	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3678588G>A	uc002wja.3	-	7	1979	c.1979C>T	c.(1978-1980)tCc>tTc	p.S660F	SIGLEC1_uc002wiz.4_Missense_Mutation_p.S660F	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	660	Ig-like C2-type 6.				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						CATGCGTGGGGAACAGCCCCC	0.622000														74			32		0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6752821	6752821	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6752821G>A	uc001qpu.1	-	5	1009	c.961C>T	c.(961-963)Cac>Tac	p.H321Y	ACRBP_uc010sfg.1_Missense_Mutation_p.H288Y	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	321						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GCCTCTGTGTGGGGCAGCTGC	0.587000														87			30		0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134163082	134163082	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:134163082C>T	uc009zdf.3	+	8	1215	c.855C>T	c.(853-855)ttC>ttT	p.F285F	GLB1L3_uc010scs.2_Silent_p.F285F|GLB1L3_uc010sct.2_Silent_p.F137F|GLB1L3_uc010scu.1_5'UTR	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	285					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AGGATACTTTCAATCAGCTTC	0.478000														30			12		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124979297	124979297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:124979297C>T	uc010flu.3	+	1	462	c.98C>T	c.(97-99)cCa>cTa	p.P33L	CNTNAP5_uc002tno.3_Missense_Mutation_p.P33L	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	33	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.D32N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGTGATGATCCACTAGCATCC	0.448000														14			4		0	0	1	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74641768	74641768	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:74641768C>T	uc004ecg.3	-	8	1272	c.794G>A	c.(793-795)gGc>gAc	p.G265D	ZDHHC15_uc004ech.3_Missense_Mutation_p.G256D|ZDHHC15_uc011mqo.1_Non-coding_Transcript	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	Homo sapiens zinc finger, DHHC-type containing 15 (ZDHHC15), transcript variant 1, mRNA.	265						integral to membrane	zinc ion binding	p.G265C(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CTTGATGAAGCCAAGGTTGAA	0.433000														28			21		0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67430791	67430791	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67430791G>A	uc001omr.3	-	9	1492	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	ALDH3B2_uc001oms.3_Silent_p.P351P	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	351					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CCAGGCCGGAGGGGGCGAGCA	0.617000														41			20		0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11197563	11197563	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:11197563C>T	uc004cup.1	-	6	2212	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.E447K|ARHGAP6_uc004cum.1_Missense_Mutation_p.E244K|ARHGAP6_uc004cun.1_Missense_Mutation_p.E267K|ARHGAP6_uc010neb.1_Missense_Mutation_p.E269K|ARHGAP6_uc011mif.1_Missense_Mutation_p.E244K	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	447	Rho-GAP.				Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGGTCAAATTCCTCACGTAAC	0.517000														25			16		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4511239	4511239	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4511239C>T	uc002mar.1	-	2	2691	c.2691G>A	c.(2689-2691)ggG>ggA	p.G897G	PLIN4_uc010dub.1_5'UTR	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	897	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCTGGACAGTCCCTTTGGCCA	0.602000														115			32		0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41439581	41439581	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:41439581G>A	uc003ckv.4	-	34	3868	c.3667C>T	c.(3667-3669)Ctc>Ttc	p.L1223F		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	1223							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ATTCTTCTGAGAATCCTTAAC	0.478000														100			35		0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17578719	17578719	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17578719C>T	uc002zly.3	+	2	327	c.196C>T	c.(196-198)Cga>Tga	p.R66*		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	66					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	p.R66*(2)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GATTCACCCTCGAAACCTGAC	0.577000														48			21		0	0	1	0	0
OPALIN	93377	broad.mit.edu	37	10	98108055	98108055	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98108055C>T	uc001kmj.3	-	4	679	c.240G>A	c.(238-240)aaG>aaA	p.K80K	OPALIN_uc010qor.2_Silent_p.K70K|OPALIN_uc001kmi.3_Silent_p.K70K|OPALIN_uc001kmk.3_Silent_p.K57K|OPALIN_uc010qos.2_Non-coding_Transcript	NM_033207	NP_149984	Q96PE5	OPALI_HUMAN	Homo sapiens oligodendrocytic myelin paranodal and inner loop protein (OPALIN), transcript variant 1, mRNA.	80						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CCTCAGATATCTTGGGATTGT	0.333000														62			17		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10545925	10545925	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10545925T>C	uc002gmq.2	-	15	1785	c.1697A>G	c.(1696-1698)aAg>aGg	p.K566R		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	566	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CACCTTGGGCTTCTGGAAGTT	0.532000														81			59		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183694775	183694775	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:183694775C>T	uc003ivd.1	+	21	5118	c.5043C>T	c.(5041-5043)atC>atT	p.I1681I		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1681					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TGTCCTCGATCGATTCTTTCT	0.463000														148			19		0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25313252	25313252	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:25313252C>T	uc001isi.4	+	2	1429	c.1100C>T	c.(1099-1101)cCa>cTa	p.P367L	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Missense_Mutation_p.P367L	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	367					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	CACTGTATCCCACCAAGTTGC	0.388000														114			36		0	0	1	0	0
KCNG3	170850	broad.mit.edu	37	2	42720426	42720426	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:42720426G>A	uc002rsn.3	-	0	812	c.216C>T	c.(214-216)ttC>ttT	p.F72F	MTA3_uc002rso.1_5'Flank|KCNG3_uc002rsm.3_Silent_p.F72F	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 3 (KCNG3), transcript variant 1, mRNA.	72						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						AGAGCAGGATGAAGCCGAAGG	0.662000														25			13		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62039787	62039787	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62039787C>T	uc002yey.1	-	15	2043	c.1866G>A	c.(1864-1866)cgG>cgA	p.R622R	KCNQ2_uc002yez.1_Silent_p.R591R|KCNQ2_uc002yfa.1_Silent_p.R604R|KCNQ2_uc002yfb.1_Silent_p.R594R	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	622					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCTTCCCGAGCCGTCCCATCA	0.706000														19			6		0	0	1	0	0
USO1	8615	broad.mit.edu	37	4	76695903	76695903	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:76695903C>T	uc003hiu.3	+	6	652	c.477C>T	c.(475-477)ttC>ttT	p.F159F	USO1_uc003hiv.3_Silent_p.F45F|USO1_uc003hiw.3_Silent_p.F45F	NM_003715	NP_003706	O60763	USO1_HUMAN	Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA.	210	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	Golgi membrane|cytosol	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAAATGCTTTCGAGAGACTAC	0.383000														108			39		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30740440	30740440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30740440C>T	uc002dze.1	+	25	6197	c.5812C>T	c.(5812-5814)Cct>Tct	p.P1938S	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P1733S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1938					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)			CCCCATCGGCCCTCGTTCTCC	0.597000														67			28		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47332457	47332457	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:47332457G>A	uc003tnw.3	-	25	4177	c.3819C>T	c.(3817-3819)gcC>gcT	p.A1273A	TNS3_uc022acn.1_Silent_p.A830A	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1273	SH2.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGCACGGCAAGGCCAAGGGCG	0.537000														59			16		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027464	55027464	+	Missense_Mutation	SNP	C	T	T	rs112730552	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:55027464C>T	uc002xxp.2	+	5	1457	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	CASS4_uc002xxq.4_Missense_Mutation_p.S411F|CASS4_uc010zze.1_Missense_Mutation_p.S357F|CASS4_uc002xxr.2_Missense_Mutation_p.S411F|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	411	Ser-rich.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AGCATCGTTTCCTCGTGCTCC	0.552000														26			15		0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49848734	49848734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49848734C>T	uc003cxr.3	-	8	1265	c.1094G>A	c.(1093-1095)gGt>gAt	p.G365D		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	365	2 approximate repeats.			GVLSPMVAMLGAVAAQEVLKAISR -> RCLEPMVACWVSS CPGSAEGNLQ (in Ref. 1; AAA75388 and 2; AAG49557).	ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGCTACTGCACCCAGCATGGC	0.597000														59			22		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35781030	35781030	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:35781030C>T	uc011axy.2	+	15	2081	c.1869C>T	c.(1867-1869)ccC>ccT	p.P623P	ARPP21_uc003cga.3_Silent_p.P603P|ARPP21_uc003cgb.3_Silent_p.P622P|ARPP21_uc003cgf.3_Silent_p.P458P|ARPP21_uc003cgg.3_Silent_p.P145P	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	622	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGCCCCCTCCCTCACCACAGG	0.562000														49			23		0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32030581	32030581	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:32030581G>A	uc011axg.2	+	1	559	c.10G>A	c.(10-12)Gag>Aag	p.E4K	ZNF860_uc021wuv.1_Missense_Mutation_p.E4K	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						CATGTTACGTGAGGAAGCAGC	0.453000														88			29		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107013176	107013176	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:107013176G>A	uc021ser.1	-	218		c.8700C>T								Parts of antibodies, mostly variable regions.																		AGCTGTACAGGAGAGTCTCAG	0.547000														85			26		0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130059685	130059685	+	Silent	SNP	C	T	T	rs142848651	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:130059685C>T	uc001qfw.3	+	4	685	c.492C>T	c.(490-492)caC>caT	p.H164H	ST14_uc010sca.1_5'Flank	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	164					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCCCGCAGCACCTGGTGGAGG	0.677000														110			50		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102496039	102496039	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102496039G>A	uc001phc.3	-	0	25	c.12C>T	c.(10-12)ctC>ctT	p.L4L		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	4					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CAGATGCAGGGAGCACCTTCA	0.532000														44			15		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885739	39885739	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:39885739C>T	uc001zkh.3	+	18	3316	c.3137C>T	c.(3136-3138)tCc>tTc	p.S1046F	THBS1_uc010bbi.3_Missense_Mutation_p.S518F	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	1046	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GTCACCCAGTCCTACTGGGAC	0.547000														129			50		0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45009349	45009349	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:45009349G>A	uc003tmh.2	-	10	1602	c.1458C>T	c.(1456-1458)acC>acT	p.T486T	MYO1G_uc003tmg.2_Silent_p.T248T|MYO1G_uc010kym.2_Silent_p.T371T|MYO1G_uc003tmi.1_Silent_p.T398T|MYO1G_uc022acj.1_5'Flank|MYO1G_uc003tmj.2_Silent_p.T248T	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	486	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GCATGTCCAGGGTCTGCAGGA	0.662000														110			45		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38913777	38913777	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38913777C>T	uc021wvy.1	-	19	3601	c.3402G>A	c.(3400-3402)gtG>gtA	p.V1134V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1134					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGAGGGTGGTCACAGAGACCT	0.473000														87			27		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80772140	80772140	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:80772140G>A	uc010ysh.2	+	8	1329	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	CTNNA2_uc010yse.2_Missense_Mutation_p.E442K|CTNNA2_uc010ysf.2_Missense_Mutation_p.E442K|CTNNA2_uc010ysg.2_Missense_Mutation_p.E442K|CTNNA2_uc010ysi.2_Missense_Mutation_p.E74K	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	442					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTCCAACAATGAAGAAGGGGT	0.468000														44			11		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131859669	131859669	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:131859669C>T	uc003ytd.4	-	11	2758	c.2502_splice	c.e11+1	p.E834_splice	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	834					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TAAATAAATACCTCTGGGTAG	0.423000										HNSCC(32;0.087)				21			13		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105905303	105905303	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105905303T>C	uc001kxw.3	-	30	3991	c.3875A>G	c.(3874-3876)aAa>aGa	p.K1292R	WDR96_uc009xxq.3_Missense_Mutation_p.K571R	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1292										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAATTCCTTTTTAAAGCTGCG	0.363000														51			11		0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53775537	53775537	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53775537C>T	uc001scw.3	+	1	199	c.102C>T	c.(100-102)gcC>gcT	p.A34A	SP1_uc021qyf.1_Silent_p.A34A|SP1_uc010sog.2_Silent_p.A27A	NM_138473	NP_612482	P08047	SP1_HUMAN	Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.	34	Repressor domain.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GTGGTGGTGCCTTTTCACAGG	0.478000											OREG0021870	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		76			10		0	0	1	0	0
SCGB1D4	404552	broad.mit.edu	37	11	62065000	62065000	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62065000C>T	uc001ntd.1	-	1	240	c.186G>A	c.(184-186)gtG>gtA	p.V62V		NM_206998	NP_996881	Q6XE38	SG1D4_HUMAN	Homo sapiens secretoglobin, family 1D, member 4 (SCGB1D4), mRNA.	62						extracellular region	binding			lung(1)|prostate(1)	2						TGCAGTGCTTCACTTCCAACT	0.428000														261			97		0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701182	143701183	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143701182_143701183CC>TT	uc003wdt.1	+	0	93_94	c.93_94CC>TT	c.(91-96)ttcctt>ttTTtt	p.L32F		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L32P(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TTCTGATATTCCTTGTGGCCTA	0.485000														49			8		0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224916	26224916	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:26224916G>A	uc003sxq.3	+	3	1870	c.1598G>A	c.(1597-1599)aGa>aAa	p.R533K		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA.	533					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GACACAGATAGAAACTTGAGC	0.428000														83			34		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140123538	140123538	+	Silent	SNP	C	T	T	rs142111816	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:140123538C>T	uc003etn.3	+	3	757	c.567C>T	c.(565-567)tcC>tcT	p.S189S	CLSTN2_uc003etm.2_Silent_p.S189S	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	189	Cadherin 2.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.S189Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AGGACTGCTCCCCACAGTACA	0.537000										HNSCC(16;0.037)				89			19		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	98006765	98006765	+	Missense_Mutation	SNP	C	T	T	rs143109144	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98006765C>T	uc001kls.4	-	1	266	c.88G>A	c.(88-90)Ggt>Agt	p.G30S	BLNK_uc001kme.4_5'UTR|BLNK_uc001klt.4_5'UTR|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_5'UTR|BLNK_uc001klv.4_Missense_Mutation_p.G30S|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Missense_Mutation_p.G30S|BLNK_uc001kly.4_Missense_Mutation_p.G30S|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.G30S|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_5'UTR|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	30					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		ATTATTCCACCTTCATTGTTT	0.254000														89			17		0	0	1	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323749	44323749	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:44323749C>T	uc002zcm.3	+	2	693	c.627C>T	c.(625-627)acC>acT	p.T209T	NDUFV3_uc002zcn.3_Intron	NM_021075	NP_066553	P56181	NDUV3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa (NDUFV3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	40					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	AAGAGAAAACCTTGCTGCAGA	0.522000														119			14		0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160465879	160465879	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160465879C>T	uc001fwe.2	-	1	424	c.354G>A	c.(352-354)aaG>aaA	p.K118K	SLAMF6_uc010pji.2_Intron|SLAMF6_uc001fwd.2_Silent_p.K118K|SLAMF6_uc010pjh.2_Silent_p.K69K|SLAMF6_uc010pjj.2_Intron|SLAMF6_uc009wtm.2_Silent_p.K69K	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	118						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AACTGGACAGCTTTGCAGAGG	0.423000														129			56		0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30202521	30202521	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:30202521G>A	uc003agr.3	-	10	1182	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	ASCC2_uc011akr.2_Silent_p.F270F|ASCC2_uc003ags.3_Non-coding_Transcript	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			ACTCTTCGATGAAGCCCTGAA	0.552000														30			12		0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55059688	55059688	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55059688C>T	uc001cxm.2	+	4	623	c.447C>T	c.(445-447)ttC>ttT	p.F149F	ACOT11_uc001cxj.2_Silent_p.F27F|ACOT11_uc001cxk.3_Silent_p.F115F|ACOT11_uc001cxl.2_Silent_p.F149F	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	149	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TGGCCACCTTCGTGGCCCGCC	0.632000														57			6		0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6260441	6260441	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6260441G>A	uc001mco.3	+	0	120	c.5G>A	c.(4-6)aGc>aAc	p.S2N	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Intron	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	2					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAACCATGAGCCAGGACACC	0.577000														65			27		0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44777202	44777202	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44777202G>A	uc021uvi.1	+	4	495	c.389G>A	c.(388-390)aGg>aAg	p.R130K	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_5'UTR|ZNF233_uc002oyz.2_Missense_Mutation_p.R130K	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CAAGGCAAGAGGTCCAAGTTG	0.383000														88			20		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2910072	2910072	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2910072G>A	uc022aqr.1	-	49	7962	c.7572C>T	c.(7570-7572)ggC>ggT	p.G2524G	CSMD1_uc011kwj.2_Silent_p.G1854G|CSMD1_uc010lrg.3_Silent_p.G593G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2525	Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAAGCTTGAAGCCCTCATGAC	0.507000														14			3		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424154	125424154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125424154C>T	uc022bmz.1	+	0	160	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CTCAGACACTCGTCTCCAGAC	0.468000														95			45		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73544831	73544831	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73544831G>A	uc001jrx.4	+	40	6067	c.5677G>A	c.(5677-5679)Gag>Aag	p.E1893K		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1896	Cadherin 18.				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						GGGCAACCGCGAGCGGGCCTT	0.592000														53			8		0	0	1	0	0
NDUFS2	4720	broad.mit.edu	37	1	161180451	161180451	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161180451C>T	uc001fyv.3	+	9	1385	c.937C>T	c.(937-939)Cag>Tag	p.Q313*	NDUFS2_uc010pki.2_Nonsense_Mutation_p.Q215*|NDUFS2_uc001fyw.3_Nonsense_Mutation_p.Q313*|NDUFS2_uc010pkj.2_Nonsense_Mutation_p.Q262*	NM_004550	NP_004541	O75306	NDUS2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) (NDUFS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	313					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	TGTTTACGACCAGGTTGAGTT	0.527000														49			13		0	0	1	0	0
DYDC2	84332	broad.mit.edu	37	10	82122300	82122300	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:82122300C>T	uc001kca.1	+	2	481	c.101C>T	c.(100-102)gCt>gTt	p.A34V	DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Missense_Mutation_p.A34V	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Homo sapiens DPY30 domain containing 2 (DYDC2), mRNA.	34							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GAATACCTGGCTCACTGGCTT	0.498000														58			13		0	0	1	0	0
CSN1S1	1446	broad.mit.edu	37	4	70810643	70810643	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:70810643C>T	uc003hep.1	+	14	527	c.478C>T	c.(478-480)Cct>Tct	p.P160S	CSN1S1_uc003heq.1_Missense_Mutation_p.P151S|CSN1S1_uc003her.1_Missense_Mutation_p.P152S	NM_001890	NP_001881	P47710	CASA1_HUMAN	Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA.	160						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						GCAGTATGTTCCTTTCCCACC	0.408000														226			84		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588260	247588260	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247588260G>A	uc001icr.3	+	4	1653	c.1515G>A	c.(1513-1515)atG>atA	p.M505I	NLRP3_uc001ics.3_Missense_Mutation_p.M505I|NLRP3_uc001icu.3_Missense_Mutation_p.M505I|NLRP3_uc001icw.3_Missense_Mutation_p.M505I|NLRP3_uc001icv.3_Missense_Mutation_p.M505I|NLRP3_uc010pyw.2_Missense_Mutation_p.M503I|NLRP3_uc001ict.1_Missense_Mutation_p.M503I	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	505	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCTGAGGATGAACCTGTTCC	0.502000														40			23		0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367098	142367098	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:142367098C>T	uc022bby.1	-	0	926	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	GPR20_uc003ywf.3_Missense_Mutation_p.R309Q	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	309						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GAAGAGGCCTCGGACGGTGGC	0.637000														53			8		0	0	1	0	0
C17orf64	124773	broad.mit.edu	37	17	58506739	58506739	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:58506739C>T	uc002iyq.3	+	4	535	c.446C>T	c.(445-447)tCg>tTg	p.S149L		NM_181707	NP_859058	Q86WR6	CQ064_HUMAN	Homo sapiens chromosome 17 open reading frame 64 (C17orf64), mRNA.	149										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			TTCTGCGCCTCGGATGCGCCG	0.587000														42			12		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729430	196729430	+	Nonsense_Mutation	SNP	G	A	A	rs115474479	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196729430G>A	uc002utj.4	-	40	7050	c.6949C>T	c.(6949-6951)Cga>Tga	p.R2317*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2317	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2317*(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGCAAATCGAAACAAGACA	0.443000														148			51		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706525	96706525	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:96706525C>T	uc010how.1	+	2	845	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	EPHA6_uc003drp.1_Missense_Mutation_p.R268C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	173						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R174C(3)		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						CACTGAAATTCGTGAGGTGGG	0.443000														238			89		0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8692540	8692540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8692540C>T	uc001quo.1	-	1	206	c.41G>A	c.(40-42)aGa>aAa	p.R14K		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	14						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					GAAGCATCCTCTCTCTGTAGA	0.408000														119			29		0	0	1	0	0
ZMYND10	51364	broad.mit.edu	37	3	50380626	50380626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:50380626C>T	uc003dag.1	-	5	668	c.522G>A	c.(520-522)aaG>aaA	p.K174K	RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Silent_p.K174K|ZMYND10_uc010hlm.1_Silent_p.K131K	NM_015896	NP_056980	O75800	ZMY10_HUMAN	Homo sapiens zinc finger, MYND-type containing 10 (ZMYND10), mRNA.	174						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCTCTGCCTGCTTCTGCAGCT	0.577000										TSP Lung(30;0.18)				39			19		0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102742443	102742443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102742443C>T	uc001phk.3	-	3	603	c.506G>A	c.(505-507)gGa>gAa	p.G169E		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	169					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	ATGGAAGTCTCCATGAGCTTT	0.443000														14			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584156	179584156	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179584156G>A	uc021vsy.1	-	79	20454	c.20229C>T	c.(20227-20229)ttC>ttT	p.F6743F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F3404F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7670	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTGCGGATGAAGGAAGGAG	0.502000														85			24		0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158536344	158536344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:158536344G>A	uc003woc.1	-	15	1462	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	ESYT2_uc003wob.1_Missense_Mutation_p.S584F|ESYT2_uc003wny.1_5'Flank|ESYT2_uc003wnz.1_Missense_Mutation_p.S23F|ESYT2_uc003woa.1_Missense_Mutation_p.S161F	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	Homo sapiens extended synaptotagmin-like protein 2 (ESYT2), mRNA.	612	C2 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GTTCCCCAGGGAACACTGGTG	0.557000														38			13		0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563854	75563854	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:75563854G>A	uc002fej.1	-	4	768	c.447C>T	c.(445-447)ttC>ttT	p.F149F	CHST5_uc002fei.3_Silent_p.F143F|CHST5_uc021tlk.1_Silent_p.F143F	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	143					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TTGCCCAGTTGAAAAAGGCGG	0.607000														72			33		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11583189	11583189	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11583189G>A	uc002gne.3	+	17	3537	c.3469G>A	c.(3469-3471)Gaa>Aaa	p.E1157K	DNAH9_uc010coo.3_Missense_Mutation_p.E451K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1157	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCTGTTAAAGAACGGCAGAG	0.408000														88			48		0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33449694	33449694	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:33449694C>T	uc003xjp.3	-	3	806	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	DUSP26_uc003xjq.3_Missense_Mutation_p.R158Q	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA.	158	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GGTGGCGGATCGGCTCACGCC	0.577000														18			9		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160035504	160035504	+	Silent	SNP	C	T	T	rs148016866	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:160035504C>T	uc002uag.3	+	13	2614	c.2340C>T	c.(2338-2340)ggC>ggT	p.G780G	TANC1_uc010fol.1_Silent_p.G674G|TANC1_uc010zcm.2_Silent_p.G772G|TANC1_uc010fom.1_Silent_p.G586G	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	780						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTAATGCTGGCCACATCCAGG	0.572000														205			46		0	0	1	0	0
MSRB3	253827	broad.mit.edu	37	12	65857063	65857063	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:65857063G>A	uc001ssn.3	+	5	666	c.540G>A	c.(538-540)ggG>ggA	p.G180G	MSRB3_uc009zqp.3_Silent_p.G173G|MSRB3_uc001ssm.3_Silent_p.G173G|MSRB3_uc021qzy.1_Silent_p.G173G	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript variant 1, mRNA.	180					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GAGGCAGTGGGGTCGCCAGCC	0.502000														44			14		0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132232403	132232403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:132232403G>A	uc003kyd.3	-	10	2327	c.1919C>T	c.(1918-1920)tCa>tTa	p.S640L	AFF4_uc011cxk.2_Missense_Mutation_p.S318L|AFF4_uc003kye.1_Missense_Mutation_p.S640L	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	640					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GATTTCCCTTGATTTCTGGGA	0.423000														64			11		0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92568189	92568189	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:92568189G>A	uc001doo.3	+	2	774	c.507G>A	c.(505-507)gaG>gaA	p.E169E	BTBD8_uc010otc.2_Non-coding_Transcript	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA.	169						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		AAATTCCAGAGGATATCAGTG	0.328000														76			33		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	T	T	rs121913358		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:140481402C>T	uc003vwc.4	-	10	1467	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		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.G469A(49)|p.G469V(30)|p.G469E(12)|p.G469S(12)|p.G469R(7)|p.F468S(1)|p.F468C(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)	GTAGACTGTTCCAAATGATCC	0.373000	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	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					146			31		0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	13984545	13984545	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:13984545G>A	uc001mle.3	+	0	362	c.94G>A	c.(94-96)Gag>Aag	p.E32K		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	32	Reelin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CTTCTCCGACGAGACCCTGGA	0.711000														4			4		0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40540618	40540618	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40540618G>A	uc002omu.3	-	4	2213	c.2148C>T	c.(2146-2148)taC>taT	p.Y716Y	ZNF780B_uc002omv.3_Silent_p.Y568Y	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	716					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGAATTCGGTAATGTTCAG	0.408000														74			27		0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38539158	38539158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38539158C>T	uc003cih.2	+	1	298	c.202C>T	c.(202-204)Cct>Tct	p.P68S	EXOG_uc010hhg.3_Non-coding_Transcript|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_5'UTR|EXOG_uc011ayq.1_Intron|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_5'UTR|EXOG_uc010hhe.2_5'UTR|EXOG_uc003cik.2_5'UTR	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	Homo sapiens endo/exonuclease (5'-3'), endonuclease G-like (EXOG), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	68						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						ATTTGGATTCCCTTTAACTGG	0.393000														61			31		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55874940	55874940	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55874940T>A	uc003tqz.2	-	7	946	c.829A>T	c.(829-831)Aat>Tat	p.N277Y		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	277					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCACAGTGATTTTCATTTTCC	0.308000														44			23		0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138219681	138219681	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:138219681G>A	uc003esl.3	-	13	1462	c.1264C>T	c.(1264-1266)Cct>Tct	p.P422S	CEP70_uc011bmk.2_Missense_Mutation_p.P402S|CEP70_uc011bml.2_Missense_Mutation_p.P404S|CEP70_uc011bmm.2_Missense_Mutation_p.P270S|CEP70_uc003esm.3_Missense_Mutation_p.P422S	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	422					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTAAGCCAAGGTACCAGTTCT	0.289000														88			18		0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16769358	16769358	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:16769358C>T	uc010exm.2	-	1	178	c.30G>A	c.(28-30)agG>agA	p.R10R	FAM49A_uc002rck.2_Silent_p.R10R	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	10						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TTTCAATTTCCCTGGTAAGGA	0.333000														45			28		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419274	130419274	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:130419274G>A	uc004ewe.4	-	4	829	c.546C>T	c.(544-546)gcC>gcT	p.A182A	IGSF1_uc004ewd.3_Silent_p.A182A|IGSF1_uc022cdv.1_Silent_p.A173A|IGSF1_uc004ewf.2_Silent_p.A162A|IGSF1_uc022cdw.1_Silent_p.A182A|IGSF1_uc004ewg.3_Silent_p.A182A	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	182	Ig-like C2-type 2.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGGAGAATATGGCCATTGTCC	0.517000														52			50		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43821218	43821218	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:43821218C>T	uc010skx.2	-	26	4000	c.4000G>A	c.(4000-4002)Gaa>Aaa	p.E1334K	ADAMTS20_uc001rno.1_Missense_Mutation_p.E452K	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1334	TSP type-1 9.					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)		TGTCCATTTTCATCCTGGCAG	0.488000														40			18		0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58734141	58734141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:58734141C>T	uc002iyt.2	+	4	1431	c.1199C>T	c.(1198-1200)tCc>tTc	p.S400F	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	400					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GACAGCCCTTCCTATAATAGT	0.393000														93			43		0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57013055	57013055	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:57013055C>T	uc003pdm.1	+	9	2396	c.2172C>T	c.(2170-2172)tgC>tgT	p.C724C	ZNF451_uc003pdl.3_Silent_p.C724C|ZNF451_uc003pdn.1_Silent_p.C724C|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Silent_p.C724C	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	724					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CTTGTGGTTGCCGTGAGAGTT	0.358000														37			10		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70904966	70904966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:70904966G>A	uc021vjc.1	-	11	1692	c.1427C>T	c.(1426-1428)cCg>cTg	p.P476L	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.P476L|ADD2_uc002sgz.3_Missense_Mutation_p.P476L|ADD2_uc010fdt.2_Missense_Mutation_p.P476L|ADD2_uc002shc.2_Missense_Mutation_p.P476L|ADD2_uc010fdu.2_Missense_Mutation_p.P492L	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	476					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GATGCGAATCGGCATGCCACT	0.532000														81			8		0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121106698	121106698	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:121106698C>T	uc002tmn.2	+	1	518	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	158					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CTCCCGGGTCCGCCTATACTT	0.557000														66			31		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6243299	6243300	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:6243299_6243300GG>AA	uc002kmz.4	-	6	613_614	c.453_454CC>TT	c.(451-456)atccct>atTTct	p.P152S	L3MBTL4_uc002kmy.4_Missense_Mutation_p.P152S|L3MBTL4_uc010dkt.3_Missense_Mutation_p.P152S	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	152					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTACCCTTAGGGATGTGCAGTT	0.366000														89			25		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872705	213872705	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:213872705G>A	uc002vem.3	-	7	1129	c.960C>T	c.(958-960)gcC>gcT	p.A320A	IKZF2_uc010fuu.3_Silent_p.A175A|IKZF2_uc002vej.3_Silent_p.A267A|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Silent_p.A246A|IKZF2_uc002vel.3_Silent_p.A241A|IKZF2_uc010fuw.3_Silent_p.A94A|IKZF2_uc010fux.3_Silent_p.A94A|IKZF2_uc010fuy.3_Silent_p.A248A|IKZF2_uc002ven.3_Silent_p.A294A|IKZF2_uc002vei.3_Silent_p.A98A	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CATTGTTGATGGCTTGGTCCA	0.483000														67			18		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155295167	155295167	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:155295167C>T	uc002tyt.4	+	9	1563	c.1459C>T	c.(1459-1461)Ctc>Ttc	p.L487F	GALNT13_uc002tyr.4_Missense_Mutation_p.L487F|GALNT13_uc010fod.3_Splice_Site_p.T219_splice|AX746678_uc002tyu.1_Intron	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	487	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGTTTCTAGACTCAATGGACC	0.318000														90			35		0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118145875	118145875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:118145875C>T	uc004eqw.3	+	7	1781	c.1750C>T	c.(1750-1752)Cgt>Tgt	p.R584C	LONRF3_uc004eqx.3_Missense_Mutation_p.R543C|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Missense_Mutation_p.R328C	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	584	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CCTGATGATTCGTAGATGCAT	0.493000														37			51		0	0	1	0	0
ANXA2	302	broad.mit.edu	37	9	33624621	33624621	+	Missense_Mutation	SNP	C	T	T	rs150567876	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:33624621C>T	uc010mjx.3	+	0	399	c.350C>T	c.(349-351)tCc>tTc	p.S117F	DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank	NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	117					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	CTAAAAGCTTCCATGAAGGGG	0.498000											OREG0019140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			17		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346900	48346900	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:48346900G>A	uc010rhv.2	+	0	408	c.408G>A	c.(406-408)gaG>gaA	p.E136E		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GAGGTGTTGAGATCATTCTGC	0.483000														204			22		0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67513729	67513729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:67513729C>T	uc002jij.3	+	3	509	c.221C>T	c.(220-222)cCc>cTc	p.P74L	MAP2K6_uc002jii.3_Missense_Mutation_p.P74L|MAP2K6_uc002jik.3_Missense_Mutation_p.P104L	NM_002758	NP_002749	P52564	MP2K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA.	74	Protein kinase.				DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CGGCACGTGCCCAGCGGGCAG	0.507000														33			14		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278658	36278658	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36278658C>T	uc002obs.2	+	20	2852	c.2708C>T	c.(2707-2709)tCc>tTc	p.S903F	ARHGAP33_uc002obt.2_Missense_Mutation_p.S900F|ARHGAP33_uc002obv.1_Missense_Mutation_p.S652F	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1064					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CAGCCCAGTTCCCCAGCCCCA	0.667000														84			10		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3658802	3658803	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:3658802_3658803GG>AA	uc003smx.3	+	1	528_529	c.389_390GG>AA	c.(388-390)ggg>gAA	p.G130E		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	130	Ig-like C2-type 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTTGCCGAAGGGAGCTGGCCTT	0.475000														53			9		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9100069	9100069	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:9100069C>T	uc003brf.1	-	6	1565	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	SRGAP3_uc003brg.1_Missense_Mutation_p.E297K|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brj.1_Missense_Mutation_p.E157K	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	297					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.H296H(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCAGCCCTTCGTGGCGAGAG	0.552000			T	RAF1	pilocytic astrocytoma									116			54		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606170	21606170	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:21606170G>A	uc003cce.3	-	2	580	c.172C>T	c.(172-174)Ccg>Tcg	p.P58S	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	58						nucleus	nucleic acid binding|zinc ion binding	p.P58T(2)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTCTGAATCGGGTCCATCTGT	0.358000														69			18		0	0	1	0	0
ANKRD19P	138649	broad.mit.edu	37	9	95646896	95646896	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:95646896C>T	uc004asr.4	+	9		c.2024C>T								Homo sapiens ankyrin repeat domain 19, pseudogene (ANKRD19P), non-coding RNA.																		GACCTGCTTTCACAACTGCAG	0.607000														125			44		0	0	1	0	0
SERGEF	26297	broad.mit.edu	37	11	18026017	18026017	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:18026017G>A	uc001mnm.3	-	3	498	c.418C>T	c.(418-420)Cga>Tga	p.R140*	SERGEF_uc009yhd.3_Non-coding_Transcript|SERGEF_uc001mnn.3_Nonsense_Mutation_p.R140*|SERGEF_uc010rcz.1_Nonsense_Mutation_p.R26*	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN	Homo sapiens secretion regulating guanine nucleotide exchange factor (SERGEF), mRNA.	140					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	Ran guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						ACACATCTTCGAGGTCCATGA	0.418000														22			9		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134916263	134916263	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:134916263G>A	uc001llw.3	+	13	2478	c.2478G>A	c.(2476-2478)agG>agA	p.R826R	GPR123_uc001llx.4_Silent_p.R106R			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	106						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TGACCGCCAGGAACATCTACA	0.622000														28			5		0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154146656	154146656	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:154146656G>A	uc003faa.3	-	0	849	c.749C>T	c.(748-750)tCc>tTc	p.S250F		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	250						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGGGGACAGGGAAACCACTCT	0.652000														54			9		0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36714235	36714235	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:36714235G>A	uc003omr.1	-	15	1205	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	CPNE5_uc003omp.1_Missense_Mutation_p.P88S|CPNE5_uc010jwn.1_Missense_Mutation_p.P30S|CPNE5_uc003omq.1_Missense_Mutation_p.P30S	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	380	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCCAGGGCAGGGAACATCTTG	0.627000														86			17		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72351362	72351362	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72351362G>A	uc002jkm.4	+	19	3046	c.2908G>A	c.(2908-2910)Ggt>Agt	p.G970S		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	970					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCCCAACCCAGGTGGTGGTTC	0.667000														77			16		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7173259	7173259	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7173259C>T	uc001qsj.3	+	9	1575	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	C1S_uc001qsk.3_Missense_Mutation_p.R286C|C1S_uc001qsl.3_Missense_Mutation_p.R286C|C1S_uc009zfr.3_Missense_Mutation_p.R119C|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	286	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CTGGAAACTTCGCTATCATGG	0.433000														65			22		0	0	1	0	0
CELA1	1990	broad.mit.edu	37	12	51736476	51736476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51736476G>A	uc001ryi.1	-	3	250	c.209C>T	c.(208-210)aCt>aTt	p.T70I		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 1 (CELA1), mRNA.	70	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CACGCGGAAAGTCTTCTGGCT	0.493000														37			11		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140794788	140794788	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140794788C>T	uc003lkl.2	+	0	2046	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Silent_p.F682F|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	680					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)			TCGGCAGCTTCGAGTCTCCAG	0.657000														137			57		0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81065942	81065942	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81065942C>T	uc001kaf.2	+	21	3081	c.2509C>T	c.(2509-2511)Cct>Tct	p.P837S	ZMIZ1_uc001kag.2_Missense_Mutation_p.P713S|ZMIZ1_uc010qlq.1_5'UTR	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	837					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAAGGACGACCCTGATGGCAT	0.612000														41			18		0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79363967	79363967	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:79363967C>T	uc002soa.1	-	3		c.347G>A			REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript					Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds.																		TGGTGCCACTCTCTTTAATCA	0.522000														31			17		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221500	59221500	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:59221500G>A	uc010dps.1	+	10	2130	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K	CDH20_uc002lif.2_Missense_Mutation_p.E654K	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	660					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)				AAACATCCACGAGAACATCGT	0.612000														162			51		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103420	168103420	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:168103420G>A	uc002udx.3	+	8	5607	c.5518G>A	c.(5518-5520)Gat>Aat	p.D1840N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D1665N|XIRP2_uc010fpq.3_Missense_Mutation_p.D1618N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1665					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TATAAAAGGTGATTTGACATC	0.388000														107			37		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45279062	45279062	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:45279062C>T	uc003bfn.3	-	12	1651	c.1500G>A	c.(1498-1500)acG>acA	p.T500T	PHF21B_uc011aqk.2_Silent_p.T446T|PHF21B_uc003bfm.3_Silent_p.T296T|PHF21B_uc011aql.2_Silent_p.T458T	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	500							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GGCTAGTGGTCGTCATGGTGA	0.701000														94			27		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20492235	20492235	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20492235C>T	uc010bwe.3	+	12	1740	c.1501C>T	c.(1501-1503)Cga>Tga	p.R501*	ACSM2A_uc010vax.1_Nonsense_Mutation_p.R422*|ACSM2A_uc002dhf.4_Nonsense_Mutation_p.R501*|ACSM2A_uc002dhg.4_Nonsense_Mutation_p.R501*|ACSM2A_uc010vay.2_Nonsense_Mutation_p.R422*|ACSM2A_uc002dhh.4_Nonsense_Mutation_p.R131*	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	501					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGACCCCGTCCGAGGAGAGGT	0.562000														39			13		0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110495667	110495667	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:110495667G>A	uc004epc.2	-	4	758	c.567C>T	c.(565-567)ttC>ttT	p.F189F	CAPN6_uc011msu.2_Intron	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	189	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ATGTGCCCGTGAAGTCCACAA	0.423000														26			32		0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56098199	56098199	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:56098199G>A	uc002rzi.3	-	9	1561	c.1060C>T	c.(1060-1062)Cat>Tat	p.H354Y	EFEMP1_uc002rzj.3_Missense_Mutation_p.H354Y|EFEMP1_uc010ypc.2_Missense_Mutation_p.H216Y	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	354	EGF-like 6; calcium-binding (Potential).|Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAGCCGCCATGATAATTCCAA	0.378000														65			21		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39114774	39114774	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39114774C>T	uc003xmt.4	+	18	2319	c.2074C>T	c.(2074-2076)Cct>Tct	p.P692S	ADAM32_uc011lch.2_Missense_Mutation_p.P593S|ADAM32_uc003xmu.4_Missense_Mutation_p.P586S|ADAM32_uc003xmv.3_Missense_Mutation_p.P116S	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	692					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.P691S(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CATTGCTCTTCCTATTCTCAT	0.378000														75			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542591	179542591	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179542591C>T	uc021vsy.1	-	142	30541	c.30316G>A	c.(30316-30318)Gaa>Aaa	p.E10106K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6767K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11033	Glu-rich.						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)			AATAGAACTTCCTCTTCCTGA	0.393000														88			49		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110492333	110492333	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110492333G>A	uc003yne.3	+	54	9396	c.9292G>A	c.(9292-9294)Gaa>Aaa	p.E3098K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3098	G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TTCTTACAGAGAAGTTGTTTT	0.353000										HNSCC(38;0.096)				8			4		0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6012345	6012345	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:6012345G>A	uc003zjr.3	-	0	3296	c.3263C>T	c.(3262-3264)tCa>tTa	p.S1088L	RANBP6_uc011lmf.2_Missense_Mutation_p.S736L|RANBP6_uc003zjs.3_3'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	1088					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCAAGTTGTGATACACATTC	0.353000														58			13		0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50740495	50740495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:50740495G>A	uc003paf.3	+	7	1789	c.1277G>A	c.(1276-1278)gGa>gAa	p.G426E	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	426							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCTGGCCAAGGACATGCCAAC	0.488000														44			18		0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	168910679	168910679	+	Missense_Mutation	SNP	G	C	C	rs144833047		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:168910679G>C	uc003qwr.2	+	1	389	c.169G>C	c.(169-171)Gga>Cga	p.G57R	SMOC2_uc003qws.2_Missense_Mutation_p.G57R	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	57	Kazal-like.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CGCATCTGACGGAAGGACCTT	0.463000														37			38		0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67703945	67703945	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:67703945C>T	uc001stn.2	+	12	3646	c.3209C>T	c.(3208-3210)cCa>cTa	p.P1070L	CAND1_uc001sto.2_Missense_Mutation_p.P580L	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	1070					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAAATGGGTCCATTTAAACAT	0.353000														152			21		0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25243010	25243010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:25243010C>T	uc001rgh.3	+	12	1579	c.485C>T	c.(484-486)tCt>tTt	p.S162F	LRMP_uc010sja.2_Missense_Mutation_p.S162F|LRMP_uc010sjc.2_Missense_Mutation_p.S162F|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Missense_Mutation_p.S109F|LRMP_uc010sjd.2_Missense_Mutation_p.S109F	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	218					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)					CTCAGATTATCTTTGGGATTT	0.393000														114			47		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33475234	33475234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:33475234C>T	uc001iwx.4	-	13	2768	c.2245G>A	c.(2245-2247)Gat>Aat	p.D749N	NRP1_uc001iwv.4_Missense_Mutation_p.D749N|NRP1_uc001iwy.4_Missense_Mutation_p.D742N|NRP1_uc009xlz.3_Missense_Mutation_p.D743N|NRP1_uc001iww.4_Missense_Mutation_p.D561N	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	749	MAM.			D -> H (in Ref. 2; AAC12921).	axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	ACCAGCTGATCGTACTCCTCT	0.542000														50			20		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181480566	181480566	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181480566G>A	uc009wxt.3	+	2	627	c.432G>A	c.(430-432)gtG>gtA	p.V144V	CACNA1E_uc001gow.3_Silent_p.V144V|CACNA1E_uc009wxs.3_Silent_p.V144V|CACNA1E_uc009wxr.3_Silent_p.V51V	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	144					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						TCAAAATTGTGGCCCTGGGGT	0.488000														172			77		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582436	179582436	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179582436G>A	uc021vsy.1	-	83	21658	c.21433C>T	c.(21433-21435)Ctt>Ttt	p.L7145F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L3806F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8072	Ig-like 53.			D -> H (in Ref. 1; CAA62189).			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)			GACACTTGAAGAGGTTCTGAG	0.408000														27			4		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47236521	47236521	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:47236521C>T	uc002ion.2	+	5	860	c.801C>T	c.(799-801)ttC>ttT	p.F267F	B4GALNT2_uc010wlt.1_Silent_p.F181F|B4GALNT2_uc010wlu.1_Silent_p.F207F	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	267					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGTTGAAGTTCATTCTTCAGC	0.532000														176			71		0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8790821	8790821	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:8790821G>A	uc003srv.3	+	2	1149	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	NXPH1_uc011jxh.2_5'UTR	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	80	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGACACCCCAGAACCTTATTC	0.507000														40			30		0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707821	50707821	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:50707821G>A	uc002egk.2	-	3	620	c.447C>T	c.(445-447)ttC>ttT	p.F149F	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	149	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TCTCCTCAGCGAAGTTCCCAG	0.617000														41			7		0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374623	8374623	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8374623C>T	uc001qui.2	-	6	1749	c.1190G>A	c.(1189-1191)cGg>cAg	p.R397Q	FAM90A1_uc001quh.2_Missense_Mutation_p.R397Q	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	397							nucleic acid binding|zinc ion binding	p.R397W(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TTCCAGTCTCCGAAAGAGCAC	0.637000														31			7		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76573651	76573651	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:76573651C>T	uc002fex.1	+	18	3404	c.3265C>T	c.(3265-3267)Caa>Taa	p.Q1089*	CNTNAP4_uc002feu.1_Nonsense_Mutation_p.Q1085*|CNTNAP4_uc002fev.1_Nonsense_Mutation_p.Q950*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.Q1013*	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1086	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AAATAAATATCAAGAGCCTGA	0.343000														40			22		0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21268095	21268095	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:21268095G>A	uc001bec.3	-	8	1640	c.1384C>T	c.(1384-1386)Ctt>Ttt	p.L462F	EIF4G3_uc010odi.2_Missense_Mutation_p.L66F|EIF4G3_uc010odj.2_Missense_Mutation_p.L461F|EIF4G3_uc009vpz.3_Intron|EIF4G3_uc001bef.3_Missense_Mutation_p.L461F|EIF4G3_uc001bee.3_Missense_Mutation_p.L468F|EIF4G3_uc001beg.3_Missense_Mutation_p.L461F|EIF4G3_uc010odk.2_Missense_Mutation_p.L462F|EIF4G3_uc001beh.3_Missense_Mutation_p.L473F	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	462					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCTTCACTAAGGCAAGTTCTT	0.438000														230			65		0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53190843	53190843	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:53190843T>G	uc002ehb.3	+	0	1006	c.842T>G	c.(841-843)aTa>aGa	p.I281R	CHD9_uc002egy.3_Missense_Mutation_p.I281R|CHD9_uc002egz.1_Missense_Mutation_p.I281R|CHD9_uc002ehc.3_Missense_Mutation_p.I281R	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	281	Ser-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGTAATCATATATCACCAAAC	0.343000														78			36		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95718849	95718849	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95718849C>T	uc009xuj.2	-	0	2824	c.2305G>A	c.(2305-2307)Gaa>Aaa	p.E769K						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		ATCTTCTCTTCCTCAGTCATA	0.532000														38			18		0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131220670	131220670	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:131220670C>T	uc003qch.2	-	7	1379	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	EPB41L2_uc010kfl.2_Silent_p.K399K|EPB41L2_uc003qcg.1_Silent_p.K399K|EPB41L2_uc003qci.3_Silent_p.K399K|EPB41L2_uc011eby.2_Silent_p.K399K|EPB41L2_uc010kfk.2_Silent_p.K399K	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	399	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGGAAAGCCTCTTTGCATTTT	0.418000														63			34		0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92848455	92848455	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92848455C>T	uc011khy.2	-	2	481	c.458G>A	c.(457-459)gGa>gAa	p.G153E	HEPACAM2_uc003uml.3_Missense_Mutation_p.G118E|HEPACAM2_uc010lff.3_Missense_Mutation_p.G118E|HEPACAM2_uc003umm.3_Missense_Mutation_p.G130E	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	130	Ig-like C2-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AGATAGAGTTCCATTTCCCTG	0.483000														50			17		0	0	1	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36361338	36361338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36361338C>T	uc021wdj.1	+	1	179	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	CTNNBL1_uc021wdi.1_Missense_Mutation_p.R3W	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	30					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GAAGATGCGTCGGAAACAAAC	0.478000														62			20		0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36939451	36939451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:36939451C>T	uc001caw.2	-	4	983	c.399G>A	c.(397-399)atG>atA	p.M133I	CSF3R_uc001cav.2_Missense_Mutation_p.M133I|CSF3R_uc001cax.2_Missense_Mutation_p.M133I	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	133	Fibronectin type-III 1.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGTGAGGTTCATGAGGCAGG	0.592000														58			22		0	0	1	0	0
CSN1S1	1446	broad.mit.edu	37	4	70810661	70810661	+	Missense_Mutation	SNP	G	A	A	rs149927680	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:70810661G>A	uc003hep.1	+	14	545	c.496G>A	c.(496-498)Gac>Aac	p.D166N	CSN1S1_uc003heq.1_Missense_Mutation_p.D157N|CSN1S1_uc003her.1_Missense_Mutation_p.D158N	NM_001890	NP_001881	P47710	CASA1_HUMAN	Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA.	166						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						ACCGTTTTCCGACATCTCCAA	0.418000														224			15		0	0	1	0	0
AMICA1	120425	broad.mit.edu	37	11	118071269	118071269	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118071269G>A	uc001psk.2	-	6	1005	c.831C>T	c.(829-831)atC>atT	p.I277I	AMICA1_uc001psg.2_Silent_p.I87I|AMICA1_uc001psh.2_Silent_p.I238I|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Silent_p.I267I|AMICA1_uc010rxw.1_Silent_p.I238I|AMICA1_uc010rxx.1_Silent_p.I277I|AMICA1_uc001psl.1_Silent_p.I233I	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	277					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TTCCCACAATGATCACCAACT	0.512000														63			29		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106602608	106602608	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106602608C>T	uc001kyi.1	+	1	913	c.686C>T	c.(685-687)tCa>tTa	p.S229L		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	229						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACTGAGAGTTCACTATGGAGG	0.502000														57			15		0	0	1	0	0
CWC27	10283	broad.mit.edu	37	5	64273001	64273001	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:64273001C>T	uc003jtn.1	+	12	1411	c.1192C>T	c.(1192-1194)Caa>Taa	p.Q398*	CWC27_uc010iwt.1_Intron	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	Homo sapiens CWC27 spliceosome-associated protein homolog (S. cerevisiae) (CWC27), mRNA.	398					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TAAACTCACTCAAGCAATTGC	0.333000														50			15		0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93015479	93015479	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:93015479C>T	uc002brc.1	+	0	573	c.101C>T	c.(100-102)aCt>aTt	p.T34I	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	34										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			AACACCAAGACTTCCCCAAGA	0.537000														93			74		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706530	96706530	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:96706530G>A	uc010how.1	+	2	850	c.807G>A	c.(805-807)gaG>gaA	p.E269E	EPHA6_uc003drp.1_Silent_p.E269E	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	174						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						AAATTCGTGAGGTGGGGCCTA	0.448000														283			52		0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2217878	2217878	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:2217878C>T	uc002lvc.1	+	7	1301	c.534C>T	c.(532-534)ccC>ccT	p.P178P	DOT1L_uc002lvb.4_Silent_p.P884P|AX746733_uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Silent_p.P178P	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	884						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)		TCAGCATTCCCCTGGCCAGCG	0.687000														27			6		0	0	1	0	0
SH2D7	646892	broad.mit.edu	37	15	78393515	78393515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:78393515G>A	uc010blb.1	+	4	920	c.920G>A	c.(919-921)gGt>gAt	p.G307D		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	Homo sapiens SH2 domain containing 7 (SH2D7), mRNA.	307										endometrium(2)|kidney(2)|lung(3)	7						CCAGACCAGGGTCCCACAGAG	0.607000														23			5		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207881565	207881565	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207881565G>A	uc001hga.4	+	9	1492	c.1371G>A	c.(1369-1371)tcG>tcA	p.S457S	CR1L_uc001hfz.2_Intron|CR1L_uc001hgb.1_Intron	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	457	Sushi 7.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTATCCTCTCGGGCAATACTG	0.453000														183			40		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62995971	62995971	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62995971C>T	uc001nwr.1	-	1	468	c.468G>A	c.(466-468)atG>atA	p.M156I	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.M156I	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	156					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CTCCCACCATCATTCCAGCCA	0.408000														84			17		0	0	1	0	0
PEX2	5828	broad.mit.edu	37	8	77896041	77896041	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:77896041C>T	uc022awg.1	-	0	374	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	PEX2_uc003yax.3_Missense_Mutation_p.R125Q|PEX2_uc003yay.3_Missense_Mutation_p.R125Q|PEX2_uc022awe.1_Missense_Mutation_p.R125Q|PEX2_uc022awf.1_Missense_Mutation_p.R125Q	NM_001172087	NP_001165558	P28328	PEX2_HUMAN	Homo sapiens peroxisomal biogenesis factor 2 (PEX2), transcript variant 4, mRNA.	125					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						ATGATGGTTTCGAAACAAATC	0.363000														88			35		0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134349893	134349893	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:134349893G>A	uc003qem.1	-	1	1241	c.1070C>T	c.(1069-1071)tCg>tTg	p.S357L		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	357						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GGTCACCAACGAAGCTGCCAT	0.493000														50			23		0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185146729	185146729	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:185146729C>T	uc010hyf.3	+	2	651	c.360C>T	c.(358-360)ttC>ttT	p.F120F	MAP3K13_uc011brt.2_Intron|MAP3K13_uc003fph.4_5'UTR|MAP3K13_uc011bru.2_Intron|MAP3K13_uc003fpi.3_Silent_p.F120F|MAP3K13_uc010hyg.3_5'UTR	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	120					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGATTCAGTTCAGCAGGTCAG	0.488000														63			22		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124348598	124348598	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124348598G>A	uc001lgk.1	+	16	2028	c.1922G>A	c.(1921-1923)aGg>aAg	p.R641K	DMBT1_uc001lgl.1_Missense_Mutation_p.R631K|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.R641K|DMBT1_uc021qag.1_Missense_Mutation_p.R631K|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R641K|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.	641	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGGTCTGCAGGCAGCTGGGC	0.612000														389			36		0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91444808	91444808	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:91444808G>A	uc001xys.2	-	2	451	c.236C>T	c.(235-237)gCc>gTc	p.A79V	RPS6KA5_uc010twi.1_5'UTR|RPS6KA5_uc001xyt.3_Missense_Mutation_p.A79V|RPS6KA5_uc010att.1_Non-coding_Transcript	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	79	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AACTTTCATGGCATACAGCTT	0.363000														52			21		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35144355	35144355	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:35144355C>T	uc003teq.1	-	17	1860	c.753G>A	c.(751-753)caG>caA	p.Q251Q	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		ACGCTAACAACTGCAATGTGT	0.323000														34			9		0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49227976	49227976	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49227976C>T	uc002pki.3	-	8	2566	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q	RASIP1_uc002pkh.3_Missense_Mutation_p.R51Q	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	790	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		ACCTTCACCTCGTTCCATCAG	0.552000														95			27		0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41075531	41075531	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:41075531G>A	uc003ayz.3	+	0	350	c.82G>A	c.(82-84)Gac>Aac	p.D28N	MCHR1_uc003aza.3_Intron	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	28			D -> V.		elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						TACGGAGGAAGACCCCCTTCC	0.652000														35			16		0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6926366	6926366	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6926366G>A	uc001qqv.2	+	6	1284	c.1026G>A	c.(1024-1026)ttG>ttA	p.L342L	CD4_uc010sfj.2_Silent_p.L69L|CD4_uc009zfc.2_Silent_p.L163L|CD4_uc010sfl.2_Silent_p.L69L|CD4_uc010sfk.2_Silent_p.L69L|CD4_uc010sfm.1_Silent_p.L69L	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	342	Ig-like C2-type 3.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				TGCTGAGTTTGAAACTGGAGA	0.567000														21			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067224	9067224	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9067224G>A	uc002mkp.3	-	2	20426	c.20222C>T	c.(20221-20223)cCt>cTt	p.P6741L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6743	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G6740C(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						GCCAAGAGGAGGACCTGTTCG	0.502000														200			68		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64417930	64417930	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64417930G>A	uc021qkw.1	-	14	3561	c.3099C>T	c.(3097-3099)ctC>ctT	p.L1033L	NRXN2_uc021qkx.1_Silent_p.L993L|NRXN2_uc001oas.3_Silent_p.L993L|NRXN2_uc001oaq.3_Silent_p.L700L	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1033	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTTTGAGATCGAGGTTTCGGG	0.632000														137			36		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39581281	39581281	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39581281G>A	uc003xni.3	+	18	2087	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.E654K	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	678					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CTTTTATACTGAAAAAGGCTA	0.299000														71			35		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75230628	75230628	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75230628C>T	uc001xqj.4	+	0	560	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S		NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	146	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCTGGAATCCCCCCCTGAATC	0.612000														41			35		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164783108	164783108	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:164783108G>A	uc003fei.3	-	6	811	c.748C>T	c.(748-750)Cgt>Tgt	p.R250C		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	250	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R250C(4)|p.R250H(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AAATCATGACGAAATCTCTTA	0.343000										HNSCC(35;0.089)				47			27		0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18751216	18751216	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:18751216G>A	uc001mpd.3	-	12	1910	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	PTPN5_uc001mpb.3_Silent_p.I461I|PTPN5_uc001mpc.3_Silent_p.I493I|PTPN5_uc010rdj.2_Silent_p.I437I|PTPN5_uc001mpf.3_Silent_p.I469I|PTPN5_uc001mpe.3_Silent_p.I461I|PTPN5_uc010rdk.2_Silent_p.I438I	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	493	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						TGCAGTGGACGATGATGGGGG	0.746000														25			8		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37120378	37120378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:37120378G>A	uc011cpa.1	-	48	9319	c.9088C>T	c.(9088-9090)Ccg>Tcg	p.P3030S	C5orf42_uc003jko.1_Missense_Mutation_p.P61S|C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Missense_Mutation_p.P1548S|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P2123S	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	3030										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATATAACTCGGTTTGGACATA	0.358000														58			34		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264576	61264576	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61264576C>T	uc010xep.2	+	7	1350	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F	SERPINB13_uc002ljc.3_Silent_p.F385F|SERPINB13_uc002ljd.3_Silent_p.F249F|SERPINB13_uc010xeq.2_Silent_p.F206F|SERPINB13_uc010xer.2_Silent_p.F206F	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	385					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TCCTCTTCTTCGGCAGATTTT	0.423000														97			47		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73442842	73442842	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:73442842C>T	uc004aid.3	-	5	1138	c.894G>A	c.(892-894)ggG>ggA	p.G298G	TRPM3_uc004ahu.3_Silent_p.G128G|TRPM3_uc004ahv.3_Silent_p.G128G|TRPM3_uc004ahw.3_Silent_p.G145G|TRPM3_uc004ahx.3_Silent_p.G145G|TRPM3_uc004ahy.3_Silent_p.G145G|TRPM3_uc004ahz.3_Silent_p.G145G|TRPM3_uc004aia.3_Silent_p.G145G|TRPM3_uc004aib.3_Silent_p.G145G|TRPM3_uc004aic.3_Silent_p.G298G|TRPM3_uc010mor.3_Silent_p.G298G|TRPM3_uc004aie.3_Silent_p.G145G|TRPM3_uc004aif.3_Silent_p.G145G|TRPM3_uc004aig.3_Silent_p.G145G|TRPM3_uc004aii.3_Silent_p.G300G	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	298						integral to membrane	calcium channel activity	p.T298T(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTCCAGTGGTCCCGTTGTCAG	0.483000														116			52		0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154667811	154667811	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:154667811G>A	uc003wlk.3	+	20	2207	c.2078_splice	c.e20+1	p.R693_splice	DPP6_uc003wli.3_Splice_Site_p.R629_splice|DPP6_uc003wlm.3_Splice_Site_p.R631_splice|DPP6_uc011kvq.2_Splice_Site_p.R586_splice	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	693					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGGCCGTGCGGTGAGCACCCG	0.677000														18			4		0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112529932	112529932	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:112529932G>A	uc002thi.3	-	46	5952	c.5705C>T	c.(5704-5706)cCt>cTt	p.P1902L		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	1902					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TAGTCCTATAGGTGGCAGGTG	0.502000														32			4		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78440599	78440599	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:78440599C>T	uc001ozl.4	-	21	3691	c.3228G>A	c.(3226-3228)agG>agA	p.R1076R		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1076					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGAGGCTGATCCTCAGGACAG	0.582000														47			20		0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131189133	131189133	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:131189133C>T	uc003vqw.4	-	8	1872	c.1614G>A	c.(1612-1614)tgG>tgA	p.W538*	PODXL_uc003vqx.4_Nonsense_Mutation_p.W506*	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	538					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GAGGGACGATCCAGCTGTCCC	0.582000														94			23		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38237609	38237609	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:38237609C>T	uc010abx.3	-	5	1867	c.1632G>A	c.(1630-1632)acG>acA	p.T544T	TRPC4_uc010abv.3_Silent_p.T124T|TRPC4_uc001uwt.3_Silent_p.T544T|TRPC4_uc001uws.3_Silent_p.T544T|TRPC4_uc010tey.2_Silent_p.T544T|TRPC4_uc010abw.3_Silent_p.T371T|TRPC4_uc010aby.3_Silent_p.T544T	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	544					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTAACCCTTTCGTTTCTTCAT	0.348000														62			23		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62579893	62579893	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62579893C>T	uc001dab.3	+	34	4744	c.4630C>T	c.(4630-4632)Ctg>Ttg	p.L1544L	INADL_uc009waf.1_Silent_p.L1574L|INADL_uc001daa.2_Silent_p.L1516L|INADL_uc001dad.3_Silent_p.L1241L|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Silent_p.L358L|INADL_uc009wag.3_Silent_p.L328L|INADL_uc010oou.1_Silent_p.L189L	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1544	PDZ 9.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGGCCGGGGCCTGGGCCTGAG	0.537000														46			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140235919	140235919	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140235919G>C	uc003lhx.2	+	0	286	c.286G>C	c.(286-288)Ggg>Cgg	p.G96R	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_Missense_Mutation_p.G96R|PCDHAC2_uc011dad.2_Missense_Mutation_p.G96R	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	112	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGTGCGGGCGGAGCGT	0.562000														196			9		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130833139	130833139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:130833139G>A	uc010fmh.2	-	16	2306	c.1906C>T	c.(1906-1908)Ctt>Ttt	p.L636F		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	636						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTACAACTAAGAGAAAGCTAA	0.323000														30			7		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76468259	76468259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:76468259G>A	uc003yaq.3	+	6	817	c.547G>A	c.(547-549)Gga>Aga	p.G183R	HNF4G_uc003yar.3_Missense_Mutation_p.G220R	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	183					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CTTACTGCTTGGAGCTACAAA	0.289000														65			15		0	0	1	0	0
NPS	594857	broad.mit.edu	37	10	129350866	129350866	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:129350866G>A	uc001ljx.1	+	2	253	c.233G>A	c.(232-234)gGg>gAg	p.G78E		NM_001030013	NP_001025184	P0C0P6	NPS_HUMAN	Homo sapiens neuropeptide S (NPS), transcript variant 1, mRNA.	78					neuropeptide signaling pathway	extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						GTTGGCACAGGGATGAAAAAA	0.413000														148			55		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54185403	54185403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:54185403G>A	uc003pcj.2	+	1	528	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	TINAG_uc003pci.3_Missense_Mutation_p.E128K|TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	128					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TCAACATTATGAAGAGGGATC	0.303000														109			31		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49459684	49459684	+	Missense_Mutation	SNP	C	T	T	rs143814415		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:49459684C>T	uc001jgi.3	-	1	407	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	FRMPD2_uc001jgh.3_Missense_Mutation_p.E17K|FRMPD2_uc001jgj.3_Missense_Mutation_p.E17K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	26	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			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)		GACAGAGCTTCACCCCTGACC	0.572000														53			23		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77387698	77387698	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:77387698C>T	uc002ffc.4	-	9	1965	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	ADAMTS18_uc010chc.1_Missense_Mutation_p.D104N|ADAMTS18_uc002ffe.1_Missense_Mutation_p.D212N	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	516	Disintegrin.				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						GTGTCAGCATCATAAATCTGT	0.428000														121			45		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74536357	74536357	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74536357C>T	uc002axo.3	+	1	447	c.53C>T	c.(52-54)gCc>gTc	p.A18V		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	221							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCCCTGATCGCCTCCCAGAGC	0.557000														159			34		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99509613	99509613	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:99509613C>T	uc003dti.1	+	1	215	c.87C>T	c.(85-87)gcC>gcT	p.A29A	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Silent_p.A29A|COL8A1_uc003dth.1_Silent_p.A29A	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	29	Nonhelical region (NC2).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AGGCTGGTGCCTACTATGGGA	0.562000														42			26		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313098	54313098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54313098G>A	uc002qcj.4	-	2	2035	c.1815C>T	c.(1813-1815)acC>acT	p.T605T	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.T605T|NLRP12_uc002qci.4_Silent_p.T605T|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.T605T	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	605					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.T605I(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCTGCTGCAGGGTGGAGCCGT	0.577000														81			25		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71549884	71549884	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:71549884C>T	uc004agu.3	+	12	1585	c.1280C>T	c.(1279-1281)tCa>tTa	p.S427L	PIP5K1B_uc011lrq.2_Missense_Mutation_p.S427L|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	427						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		ATTGTGTCCTCAATTAGCCAG	0.433000														73			20		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065152	23065152	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:23065152C>T	uc002wsv.3	-	0	1826	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	560					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCTGCAGGCTCCTGGGGGCCA	0.617000														69			34		0	0	1	0	0
FOLR1	2348	broad.mit.edu	37	11	71906994	71906994	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:71906994C>T	uc001orz.2	+	5	823	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S	FOLR1_uc001osa.2_Missense_Mutation_p.P183S|FOLR1_uc001osb.2_Missense_Mutation_p.P183S|FOLR1_uc001osd.2_Missense_Mutation_p.P183S	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	183					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	p.P183H(1)		cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						TTTCTACTTCCCCACACCCAC	0.547000														113			10		0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67219664	67219664	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67219664C>T	uc001olm.3	-	0	537	c.532G>A	c.(532-534)Gac>Aac	p.D178N	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	178						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			ATGACCAGGTCGTACCACCAG	0.662000														74			42		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76455287	76455287	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76455287G>A	uc010dhp.2	-	60	9782	c.9657C>T	c.(9655-9657)ccC>ccT	p.P3219P	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGCCTTGGTAGGGCCTAGCGA	0.647000														158			54		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107125991	107125991	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:107125991G>A	uc001tlt.3	+	13	1602	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.E479K|RFX4_uc001tls.3_Missense_Mutation_p.E488K|RFX4_uc001tlv.3_Missense_Mutation_p.E385K	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	479					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GCGGGCCAATGAGCTCATGCG	0.448000														118			31		0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	78458811	78458811	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:78458811C>T	uc002ffk.3	+	6	999	c.650C>T	c.(649-651)cCc>cTc	p.P217L	WWOX_uc002ffl.3_Intron|WWOX_uc010che.3_Intron|WWOX_uc010vnk.2_Missense_Mutation_p.P104L	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	Homo sapiens WW domain containing oxidoreductase (WWOX), transcript variant 1, mRNA.	217	Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).				Wnt receptor signaling pathway|apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTTGCTCTACCCTGGAGTCTC	0.468000														288			130		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123779149	123779149	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:123779149C>T	uc010nqy.3	-	9	1784	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	ODZ1_uc011muj.2_Missense_Mutation_p.E573K|ODZ1_uc004euj.3_Missense_Mutation_p.E574K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	574	EGF-like 2.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TGTCCTTTCTCGTATTCTCCA	0.498000														83			122		0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21607050	21607050	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:21607050C>T	uc002npw.3	+	3	1708	c.1589C>T	c.(1588-1590)tCa>tTa	p.S530L	ZNF493_uc002npx.3_Missense_Mutation_p.S402L|ZNF493_uc002npy.3_Missense_Mutation_p.S402L|ZNF493_uc021urq.1_Missense_Mutation_p.S402L	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AAACGATCTTCAACCCTTACT	0.348000														58			15		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124856640	124856640	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124856640G>A	uc021rga.1	-	19	2852	c.2735C>T	c.(2734-2736)cCc>cTc	p.P912L	NCOR2_uc021rgb.1_Missense_Mutation_p.P895L|NCOR2_uc010tbb.2_Missense_Mutation_p.P912L|NCOR2_uc010tbc.2_Missense_Mutation_p.P894L|NCOR2_uc021rgc.1_Missense_Mutation_p.P894L|NCOR2_uc010tba.2_Missense_Mutation_p.P912L|NCOR2_uc001ugj.1_Missense_Mutation_p.P912L	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	912					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTGTCCTGGGGGGCGCCCGA	0.706000														66			20		0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178854323	178854323	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:178854323G>A	uc001glz.3	+	11	1355	c.1017G>A	c.(1015-1017)agG>agA	p.R339R	RALGPS2_uc010pnb.2_Silent_p.R339R	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	339					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATGGACATAGGAAGTGCCATA	0.408000														70			12		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135480069	135480069	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:135480069G>A	uc004ezu.1	+	19	8505	c.8214G>A	c.(8212-8214)gtG>gtA	p.V2738V	GPR112_uc010nsb.1_Silent_p.V2533V	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2738					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGGATTCAGTGAATGAACAGA	0.403000														57			29		0	0	1	0	0
SCARF2	91179	broad.mit.edu	37	22	20779730	20779730	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:20779730G>A	uc002zsj.2	-	10	2653	c.2548C>T	c.(2548-2550)Ccg>Tcg	p.P850S	SCARF2_uc002zsk.2_Missense_Mutation_p.P845S	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA.	846					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TTGCGCGGCGGCTTCTGGATG	0.756000														16			5		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57060874	57060874	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:57060874C>T	uc021tiu.1	+	4	2146	c.2019C>T	c.(2017-2019)ccC>ccT	p.P673P	NLRC5_uc021tit.1_Silent_p.P673P|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Silent_p.P478P|NLRC5_uc021tiw.1_Silent_p.P478P|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	673					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ATGGCTGTCCCCTGGAGCCCC	0.597000														47			24		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012823	29012823	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29012823C>T	uc003nlw.2	-	0	130	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T43R(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGAATGATGGCTGTGTTACCC	0.403000														102			48		0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11918354	11918354	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11918354C>T	uc001atj.3	-	1	407	c.305G>A	c.(304-306)cGa>cAa	p.R102Q		NM_002521	NP_002512	P16860	ANFB_HUMAN	Homo sapiens natriuretic peptide B (NPPB), mRNA.	102					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	CTTGGGGCTTCGTGGTGCCCG	0.642000														36			15		0	0	1	0	0
WISP2	8839	broad.mit.edu	37	20	43355771	43355771	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43355771C>T	uc002xmp.3	+	3	723	c.576C>T	c.(574-576)gtC>gtT	p.V192V	LOC79015_uc002xml.1_Intron|WISP2_uc002xmq.3_Missense_Mutation_p.S110F	NM_003881	NP_003872	O76076	WISP2_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 2 (WISP2), mRNA.	192					cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCCCTGGTGTCCCCTGCCCAG	0.632000														107			57		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154861319	154861319	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:154861319C>T	uc010hvr.1	+	12	1487	c.1276C>T	c.(1276-1278)Ctt>Ttt	p.L426F	MME_uc003fab.1_Missense_Mutation_p.L426F|MME_uc003fac.1_Missense_Mutation_p.L426F|MME_uc003fad.1_Missense_Mutation_p.L426F|MME_uc003fae.1_Missense_Mutation_p.L426F	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	426					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TGTGGGGAGGCTTTATGTGGA	0.413000														142			55		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17953868	17953868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17953868C>T	uc001ban.3	+	14	1613	c.1454C>T	c.(1453-1455)tCg>tTg	p.S485L	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.S446L|ARHGEF10L_uc001bao.3_Missense_Mutation_p.S446L|ARHGEF10L_uc001bap.3_Missense_Mutation_p.S446L|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.S243L|ARHGEF10L_uc001baq.3_Missense_Mutation_p.S251L|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.S263L|ARHGEF10L_uc001bar.3_Missense_Mutation_p.S193L|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	485	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GACAGGCTGTCGCTGCAGCTG	0.627000														60			18		0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52374652	52374652	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:52374652C>T	uc003joy.3	+	23	3019	c.2876C>T	c.(2875-2877)tCa>tTa	p.S959L	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.S883L|ITGA2_uc011cqd.2_Intron|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	959					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AATGTTCCTTCAATCGTGCAC	0.373000														42			17		0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846421	72846421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72846421G>A	uc002jlt.1	-	5	1571	c.1415C>T	c.(1414-1416)tCc>tTc	p.S472F	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.S472F	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	472					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CAGGTCGTAGGAGAATTTGAC	0.607000														118			49		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54841886	54841886	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54841886G>A	uc021smr.1	+	25	5868	c.5868G>A	c.(5866-5868)ctG>ctA	p.L1956L	UNC13C_uc021sms.1_Silent_p.L1958L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1958	MHD2.				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)		TATCCAAACTGAAGGTAATAA	0.358000														83			41		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122787290	122787290	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:122787290G>A	uc003vkm.3	-	6	760	c.735C>T	c.(733-735)gcC>gcT	p.A245A	SLC13A1_uc010lks.3_Silent_p.A121A	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	245						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TAGAAGAGTAGGCAATGCACA	0.413000														32			9		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10379965	10379965	+	Silent	SNP	C	T	T	rs141820572		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10379965C>T	uc003bvt.3	-	21	3754	c.3315G>A	c.(3313-3315)ccG>ccA	p.P1105P	ATP2B2_uc003bvv.3_Silent_p.P1060P|ATP2B2_uc003bvw.3_Silent_p.P1060P|ATP2B2_uc003bvs.3_5'Flank|ATP2B2_uc010hdo.3_Silent_p.P810P	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	1105					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCTCCTCCTCCGGGATCTCCT	0.632000														98			18		0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87285691	87285691	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:87285691C>A	uc004aoa.1	+	3	966	c.28C>A	c.(28-30)Ccc>Acc	p.P10T	NTRK2_uc004anv.1_Missense_Mutation_p.P10T|NTRK2_uc004any.1_Missense_Mutation_p.P10T|NTRK2_uc004anz.1_Missense_Mutation_p.P10T|NTRK2_uc004aob.1_Missense_Mutation_p.P10T|NTRK2_uc011lsz.2_Missense_Mutation_p.P10T|NTRK2_uc011lta.2_Missense_Mutation_p.P10T|NTRK2_uc011ltb.1_5'Flank	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	10					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	p.P10H(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GTGGCATGGACCCGCCATGGC	0.677000										TSP Lung(25;0.17)				118			20		2.27731e-05	2.28108e-05	1	1	0
DRD5	1816	broad.mit.edu	37	4	9784685	9784685	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:9784685C>T	uc003gmb.4	+	0	1428	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	344					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TCGACGTCTTCGTCTGGTTCG	0.592000														138			19		0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	49006032	49006032	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49006032C>T	uc003cvb.3	+	6	916	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	ARIH2_uc003cvc.3_Missense_Mutation_p.P202S|ARIH2_uc003cvf.3_Missense_Mutation_p.P120S|ARIH2_uc010hkl.3_Missense_Mutation_p.P202S	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	202					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCCATTGCTTCCCAATGAAGA	0.522000														152			60		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064619	9064619	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9064619G>A	uc002mkp.3	-	2	23031	c.22827C>T	c.(22825-22827)gcC>gcT	p.A7609A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7611	Ser-rich.|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						GGACAGAGGAGGCAGAAATCC	0.478000														65			22		0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1246031	1246031	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1246031C>T	uc003jby.2	+	11	1848	c.1725C>T	c.(1723-1725)tcC>tcT	p.S575S		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	575					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGCTGCTGTCCTTGCTGCCCG	0.716000														22			13		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563283	140563283	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140563283C>T	uc003liv.3	+	0	2304	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	383	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.I382M(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACGATTTCCTCCATCCAGG	0.483000														95			15		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87735635	87735635	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:87735635C>T	uc003hpz.3	+	47	7869	c.7389C>T	c.(7387-7389)gtC>gtT	p.V2463V	PTPN13_uc003hpy.3_Silent_p.V2468V|PTPN13_uc003hqa.3_Silent_p.V2444V|PTPN13_uc003hqb.3_Silent_p.V2272V	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2463	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCTATCAAGTCATCCTTTATG	0.348000														54			6		0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20129011	20129011	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:20129011C>T	uc002zrr.2	+	8	1190	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	ZDHHC8_uc002zrq.3_Silent_p.F361F|ZDHHC8_uc010gsa.3_Silent_p.F167F	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	361						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GGCCGGCTTTCCCCACGGGTC	0.657000														31			9		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57481086	57481086	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57481086G>A	uc009vzx.1	-	11	1234	c.914C>T	c.(913-915)gCt>gTt	p.A305V	DAB1_uc001cyt.1_Missense_Mutation_p.A303V|DAB1_uc001cyq.1_Missense_Mutation_p.A303V|DAB1_uc001cyr.1_Missense_Mutation_p.A219V|DAB1_uc009vzw.1_Missense_Mutation_p.A287V|DAB1_uc001cys.1_Missense_Mutation_p.A305V	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	338					cell differentiation|nervous system development			p.G304G(1)|p.G304S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CGGGAGGACAGCGCCCATTGC	0.582000														25			14		0	0	1	0	0
COBRA1	25920	broad.mit.edu	37	9	140151279	140151279	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140151279C>T	uc004cmm.4	+	3	573	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	Homo sapiens cofactor of BRCA1 (COBRA1), mRNA.	124					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding			endometrium(2)|large_intestine(5)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	16	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		CATGTAGGTTCCGGAGAAAAA	0.582000														19			18		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80048890	80048890	+	Silent	SNP	G	A	A	rs145311183		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:80048890G>A	uc002kdu.3	-	9	1665	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	516	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TGGAATCTCGGAAGCGGTCCA	0.622000														57			19		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175063158	175063158	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175063158C>T	uc001gkl.1	+	6	1470	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	TNN_uc010pmx.1_Nonsense_Mutation_p.R453*	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	453	Fibronectin type-III 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGTCACTGATCGAGTGACTGA	0.433000														48			15		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158585167	158585167	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158585167C>T	uc001fst.1	-	47	6826	c.6627G>A	c.(6625-6627)atG>atA	p.M2209I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2209					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTGACGCTTCATCGCCTGGA	0.483000														120			52		0	0	1	0	0
ADSL	158	broad.mit.edu	37	22	40760984	40760984	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:40760984C>T	uc003ayp.4	+	11	1351	c.1292C>T	c.(1291-1293)gCc>gTc	p.A431V	ADSL_uc003ays.4_Intron	NM_000026	NP_000017	P30566	PUR8_HUMAN	Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA.	431					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CAGGTTGATGCCTACTTCAGT	0.488000														186			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179469545	179469545	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179469545C>T	uc021vsy.1	-	229	46792	c.46567G>A	c.(46567-46569)Gat>Aat	p.D15523N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D9218N|TTN_uc021vta.1_Missense_Mutation_p.D9151N|TTN_uc021vtb.1_Missense_Mutation_p.D9026N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16450	Fibronectin type-III 13.						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)			CCACCATTATCAAGAGGGGCA	0.448000														56			26		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234526842	234526842	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234526842C>T	uc002vup.3	+	0	552	c.489C>T	c.(487-489)ctC>ctT	p.L163L	UGT1A1_uc010zmv.1_Silent_p.L163L	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	166					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ATTTCTCCCTCCCCTCTGTGG	0.453000														270			63		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96264406	96264406	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:96264406C>T	uc001vmk.3	-	10	2051	c.1199G>A	c.(1198-1200)cGa>cAa	p.R400Q	DZIP1_uc001vml.3_Missense_Mutation_p.R400Q	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	400					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.R400*(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			cattgAGGTTCGAAGTTTCTC	0.378000														71			25		0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36884731	36884731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36884731C>T	uc002ody.1	-	4	746	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCTTACATTCATAGGGTTTA	0.413000														73			10		0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102584444	102584444	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:102584444C>T	uc001krk.4	+	8	1578	c.1028C>T	c.(1027-1029)cCt>cTt	p.P343L	PAX2_uc001krm.4_Missense_Mutation_p.P343L|PAX2_uc001krn.4_Missense_Mutation_p.P320L|PAX2_uc001kro.4_Missense_Mutation_p.P320L|PAX2_uc010qps.2_Missense_Mutation_p.P319L|PAX2_uc001krl.4_Missense_Mutation_p.P320L|PAX2_uc001krp.1_Missense_Mutation_p.P316L	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	343					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGTTACCCCCCTCACGTGCCC	0.612000														135			60		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45472270	45472270	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45472270C>T	uc002zea.3	+	3	564	c.395C>T	c.(394-396)gCc>gTc	p.A132V	TRAPPC10_uc010gpo.3_5'UTR|TRAPPC10_uc002zdz.3_Missense_Mutation_p.A132V	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	132					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GAAAATGATGCCAAGAAAAAA	0.368000														119			29		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124439967	124439967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124439967G>A	uc010san.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		GCCTTTTAATGGGGTTCTTGT	0.532000														53			6		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815650	158815650	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158815650G>A	uc001fsz.1	+	4	1044	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	282	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GGAAATAAAGGAAGCATCATC	0.338000														72			24		0	0	1	0	0
SGCG	6445	broad.mit.edu	37	13	23894882	23894882	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:23894882C>T	uc001uom.2	+	6	840	c.685C>T	c.(685-687)Cat>Tat	p.H229Y	SGCG_uc009zzv.2_Missense_Mutation_p.H229Y|SGCG_uc009zzw.2_Missense_Mutation_p.H229Y	NM_000231	NP_000222	Q13326	SGCG_HUMAN	Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA.	229					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		TATTCTTTTTCATAGTAGTGA	0.438000														33			14		0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110399131	110399131	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:110399131G>A	uc001tps.2	-	10	1104	c.939C>T	c.(937-939)gtC>gtT	p.V313V	GIT2_uc001tpq.2_Silent_p.V313V|GIT2_uc001tpv.2_Silent_p.V315V|GIT2_uc001tpu.2_Silent_p.V313V|GIT2_uc001tpt.2_Silent_p.V313V|GIT2_uc010sxu.1_Silent_p.V251V|GIT2_uc001tpw.3_Silent_p.V313V|GIT2_uc010sxv.1_Silent_p.V313V	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	313					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GAAAGGGGACGACCGTTGTCT	0.517000														43			23		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361191	107361191	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107361191G>A	uc011lvp.2	-	0	504	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TATTCCTGCAGAAAGGCAATT	0.448000														194			20		0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241401948	241401948	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241401948C>T	uc002vyw.4	+	2	887	c.666C>T	c.(664-666)tcC>tcT	p.S222S		NM_002081	NP_002072	P35052	GPC1_HUMAN	Homo sapiens glypican 1 (GPC1), mRNA.	222					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CTGCTCGCTCCTTTGTGCAGG	0.711000														36			14		0	0	1	0	0
LCN9	392399	broad.mit.edu	37	9	138556088	138556088	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:138556088C>T	uc004cgk.1	+	1	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	Homo sapiens lipocalin 9 (LCN9), mRNA.	59						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		TGAGGGTCTTCGTCCGGAATA	0.468000														75			18		0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	91994072	91994072	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:91994072G>A	uc004aqo.1	-	17	2708	c.2136C>T	c.(2134-2136)atC>atT	p.I712I	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Silent_p.I712I	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	712					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGTTGATGACGATCTTTGGTT	0.597000														60			8		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113496541	113496541	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113496541G>A	uc022blv.1	+	5	773	c.639G>A	c.(637-639)agG>agA	p.R213R	MUSK_uc022blt.1_Silent_p.R213R|MUSK_uc004bez.2_Silent_p.R223R|MUSK_uc022blu.1_Silent_p.R213R	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	213	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTTTTGCCAGGATCCTGCGGG	0.502000														21			5		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166246007	166246007	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166246007G>A	uc002udc.3	+	26	5981	c.5691G>A	c.(5689-5691)acG>acA	p.T1897T	SCN2A_uc002udd.3_Silent_p.T1897T|SCN2A_uc002ude.3_Silent_p.T1897T|SCN2A_uc021vry.1_Silent_p.T397T	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1897					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGCCCATTACGACCACGTTGA	0.448000														53			28		0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711110	20711110	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20711110G>A	uc010tld.2	+	0	160	c.160G>A	c.(160-162)Gcc>Acc	p.A54T		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A54S(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		GGGAAATGGAGCCATCATCTA	0.448000														86			32		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33985438	33985438	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:33985438G>A	uc001bxm.1	-	68	10887	c.10710C>T	c.(10708-10710)ggC>ggT	p.G3570G	CSMD2_uc001bxn.1_Silent_p.G3426G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3426						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGAGCACGAAGCCCGCAATAA	0.627000														53			15		0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14307236	14307236	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:14307236G>A	uc021war.1	-	0	917	c.917C>T	c.(916-918)cCc>cTc	p.P306L	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.P306L|FLRT3_uc002wow.2_Missense_Mutation_p.P306L	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	306	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GCAATACCAGGGATTGTTGCG	0.438000														77			37		0	0	1	0	0
DEFB112	245915	broad.mit.edu	37	6	50016297	50016297	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:50016297G>A	uc011dws.2	-	0	68	c.68C>T	c.(67-69)tCc>tTc	p.S23F		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	Homo sapiens defensin, beta 112 (DEFB112), mRNA.	23					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					AAATATTGTGGAAGATGTATT	0.333000														60			13		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38620858	38620858	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38620858C>T	uc021wvo.1	-	16	3409	c.3357G>A	c.(3355-3357)tgG>tgA	p.W1119*	SCN5A_uc021wvk.1_Nonsense_Mutation_p.W1118*|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Nonsense_Mutation_p.W1119*|SCN5A_uc021wvn.1_Nonsense_Mutation_p.W1118*|SCN5A_uc021wvp.1_Nonsense_Mutation_p.W1119*|SCN5A_uc021wvq.1_Nonsense_Mutation_p.W1118*|SCN5A_uc021wvr.1_Nonsense_Mutation_p.W1119*|SCN5A_uc021wvs.1_Nonsense_Mutation_p.W1119*|SCN5A_uc021wvt.1_Nonsense_Mutation_p.W1118*|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Nonsense_Mutation_p.W1119*|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Nonsense_Mutation_p.W985*|SCN5A_uc021wvw.1_Nonsense_Mutation_p.W729*	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1119					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTTCCGCTTTCCACTGCTGCC	0.662000														12			3		0	0	1	0	0
GLB1L	79411	broad.mit.edu	37	2	220104315	220104315	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220104315C>T	uc002vkm.3	-	8	1109	c.870G>A	c.(868-870)gaG>gaA	p.E290E	GLB1L_uc002vkk.3_Silent_p.E47E|GLB1L_uc010zkx.2_Silent_p.E200E|GLB1L_uc002vkn.3_Silent_p.E290E	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	290					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGCATGTTCTCTAGTCCTT	0.478000														168			73		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637506	248637506	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248637506C>T	uc001iel.1	+	0	855	c.855C>T	c.(853-855)atC>atT	p.I285I		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			TTTACACCATCTTCACTCCTG	0.502000														322			69		0	0	1	0	0
SKAP2	8935	broad.mit.edu	37	7	26778453	26778453	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:26778453G>A	uc003syc.3	-	5	723	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F	SKAP2_uc011jzi.2_5'UTR|SKAP2_uc011jzj.2_Missense_Mutation_p.L129F	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	144	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GTTTTACTGAGAGCACACCAC	0.363000														75			42		0	0	1	0	0
VGLL1	51442	broad.mit.edu	37	X	135618328	135618328	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:135618328G>A	uc004ezy.3	+	1	319	c.149G>A	c.(148-150)aGc>aAc	p.S50N		NM_016267	NP_057351	Q99990	VGLL1_HUMAN	Homo sapiens vestigial like 1 (Drosophila) (VGLL1), mRNA.	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					AGAGCTCTGAGCAATATCAAG	0.527000														34			22		0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	295177	295177	+	Silent	SNP	G	A	A	rs148086983	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:295177G>A	uc004cpg.3	-	12	1917	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	PPP2R3B_uc004cpf.3_Silent_p.F152F	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	551					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGCGCCTCGAAGAAGGGCC	0.711000														26			13		0	0	1	0	0
GPR27	2850	broad.mit.edu	37	3	71804292	71804292	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:71804292G>A	uc011bge.2	+	0	1092	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A	EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA.	364						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CCACCCAGGCGACCCATCCCT	0.632000														21			9		0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164781252	164781252	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:164781252G>A	uc001gct.3	+	5	1326	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	PBX1_uc010pku.2_Missense_Mutation_p.R288Q|PBX1_uc001gcs.3_Missense_Mutation_p.R288Q|PBX1_uc010pkv.2_Missense_Mutation_p.R205Q|PBX1_uc010pkw.1_Missense_Mutation_p.R178Q	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	288					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GGAAATAAGCGAATCCGGTAC	0.388000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									53			21		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56443363	56443363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56443363C>T	uc010ygg.2	-	0	340	c.315G>A	c.(313-315)atG>atA	p.M105I		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	105	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCTCACCTTTCATCTCGGCTC	0.532000														44			14		0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83549998	83549998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:83549998C>T	uc003kio.1	-	1	519	c.100G>A	c.(100-102)Gga>Aga	p.G34R	EDIL3_uc003kip.1_Missense_Mutation_p.G34R	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	34	EGF-like 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CAGATACCTCCATTTTCACAT	0.393000														46			25		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046420	69046420	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:69046420G>A	uc010fdg.3	+	8	1588	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	ARHGAP25_uc010yql.2_Missense_Mutation_p.R350Q|ARHGAP25_uc002sev.3_Missense_Mutation_p.R383Q|ARHGAP25_uc002sew.3_Missense_Mutation_p.R382Q|ARHGAP25_uc002sex.3_Missense_Mutation_p.R383Q	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	389					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GAAGACCTCCGAATTTCTAGG	0.532000														81			38		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17235031	17235032	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:17235031_17235032GG>AA	uc002dfa.3	-	6	1650_1651	c.1565_1566CC>TT	c.(1564-1566)tcc>tTT	p.S522F		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	522					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCAGGGTGTAGGAGTAGAACTG	0.480000														316			38		0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	39980049	39980049	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:39980049G>A	uc001rmb.2	-	6	2123	c.1697C>T	c.(1696-1698)tCa>tTa	p.S566L		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	566	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ATCATCCACTGAATCAGGGTA	0.388000														46			30		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124345685	124345685	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124345685G>A	uc001lgk.1	+	15	1675	c.1569G>A	c.(1567-1569)tgG>tgA	p.W523*	DMBT1_uc001lgl.1_Nonsense_Mutation_p.W513*|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Nonsense_Mutation_p.W523*|DMBT1_uc021qag.1_Nonsense_Mutation_p.W513*|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Nonsense_Mutation_p.W523*|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.	523	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			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)				ATGACAGCTGGGACACCAATG	0.617000														376			161		0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98110023	98110023	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:98110023C>T	uc011bgw.2	+	0	514	c.514C>T	c.(514-516)Cat>Tat	p.H172Y		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGTGGGTCTCATCAAATCAA	0.388000														103			38		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782698	54782698	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54782698G>A	uc002qfb.3	-	5	1190	c.924C>T	c.(922-924)gcC>gcT	p.A308A	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.A308A|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.A308A|LILRB2_uc010yet.2_Silent_p.A192A|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	308	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCGCTGGGGGCCGAGCACT	0.647000														21			24		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348338	140348338	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140348338C>T	uc003lii.3	+	0	2592	c.1987C>T	c.(1987-1989)Cga>Tga	p.R663*	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Nonsense_Mutation_p.R663*	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	663	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)			CGTGGTGGTCCGAGATAATGG	0.498000														47			13		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433147	140433147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140433147C>T	uc003lik.1	+	0	2169	c.2092C>T	c.(2092-2094)Ctt>Ttt	p.L698F		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	698					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGGTCATCCTTTCCTTTCT	0.373000														174			51		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063965	9063965	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9063965G>A	uc002mkp.3	-	2	23685	c.23481C>T	c.(23479-23481)tcC>tcT	p.S7827S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7829	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A7826A(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						GGGTCAGGGAGGAAGCTAGCT	0.542000														59			24		0	0	1	0	0
SLC25A11	8402	broad.mit.edu	37	17	4841131	4841131	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:4841131G>A	uc002fzo.2	-	7	1107	c.850C>T	c.(850-852)Ccg>Tcg	p.P284S	SLC25A11_uc002fzp.2_Missense_Mutation_p.P280S|SLC25A11_uc021tod.1_Missense_Mutation_p.P273S|SLC25A11_uc021toe.1_Missense_Mutation_p.P233S|RNF167_uc002fzs.3_5'Flank|RNF167_uc002fzw.2_5'Flank|RNF167_uc002fzu.3_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 (SLC25A11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	284					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	p.P284Q(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						GCATAGTACGGCGTGAAGCCC	0.592000														62			21		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119731983	119731983	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:119731983G>A	uc002tln.1	+	4	667	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	MARCO_uc010yyf.1_Missense_Mutation_p.A101T	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	179	Collagen-like.				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						TGAGAAGGGAGCCAAGGGGGC	0.562000														13			5		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121971092	121971092	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:121971092C>T	uc004bkc.2	-	6	1506	c.1050G>A	c.(1048-1050)gaG>gaA	p.E350E		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	350					cell cycle arrest|cell death	cytoplasm	protein binding			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						GTCTCTGTGCCTCCGTGGCAC	0.577000														48			17		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36230589	36230589	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:36230589C>T	uc003gsq.2	-	1	858	c.520G>A	c.(520-522)Gac>Aac	p.D174N	ARAP2_uc003gsr.1_Missense_Mutation_p.D174N	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	174					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						TTAATATTGTCACTACCAAAT	0.363000														47			24		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739229	55739229	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55739229G>A	uc003pcq.3	-	0	1147	c.435C>T	c.(433-435)ctC>ctT	p.L145L	BMP5_uc011dxf.2_Silent_p.L145L	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	145					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGGTATCATGGAGGCTGGCTA	0.453000														107			22		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171251235	171251235	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171251235A>C	uc009wvz.3	+	6	1082	c.946A>C	c.(946-948)Act>Cct	p.T316P	FMO1_uc010pme.2_Missense_Mutation_p.T253P|FMO1_uc001ghl.3_Missense_Mutation_p.T316P|FMO1_uc001ghm.3_Missense_Mutation_p.T316P	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	316					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTTAACAATACTTCAAAGGA	0.418000														101			16		0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586489	143586489	+	Missense_Mutation	SNP	G	A	A	rs146836865		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:143586489G>A	uc003lnm.1	+	2	841	c.212G>A	c.(211-213)gGa>gAa	p.G71E	KCTD16_uc003lnn.1_Missense_Mutation_p.G71E	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	71	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GACTCCAAGGGAAGGTTTTTC	0.463000														28			12		0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121683011	121683011	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:121683011G>A	uc001tzv.3	-	14	2314	c.1485C>T	c.(1483-1485)tcC>tcT	p.S495S	CAMKK2_uc001tzt.3_Silent_p.S495S|CAMKK2_uc001tzu.3_Silent_p.S495S|CAMKK2_uc001tzw.3_Silent_p.S452S|CAMKK2_uc001tzx.3_Silent_p.S495S|CAMKK2_uc001tzy.3_Silent_p.S452S|CAMKK2_uc001tzz.1_Silent_p.S282S|CAMKK2_uc001uaa.1_Silent_p.S495S|CAMKK2_uc001uab.3_Silent_p.S495S|CAMKK2_uc001uac.3_Silent_p.S452S	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	495	Calmodulin-binding (By similarity).				MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGTTCCCAAAGGAGCGTTTAC	0.592000														5			4		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149460541	149460541	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149460541C>T	uc003lrl.3	-	1	291	c.96G>A	c.(94-96)gtG>gtA	p.V32V	CSF1R_uc011dcd.2_5'UTR|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.V32V|CSF1R_uc011dce.1_Silent_p.V32V|CSF1R_uc011dcf.2_Silent_p.V32V	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	32	Ig-like C2-type 1.		V -> G (in dbSNP:rs56048668).		cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.V32G(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTCCTGGCTTCACGACCAGCT	0.602000														13			10		0	0	1	0	0
HAMP	57817	broad.mit.edu	37	19	35773543	35773543	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35773543G>A	uc002nyw.3	+	0	134	c.63G>A	c.(61-63)ctG>ctA	p.L21L		NM_021175	NP_066998	P81172	HEPC_HUMAN	Homo sapiens hepcidin antimicrobial peptide (HAMP), mRNA.	21					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCGCCAGCCTGACCAGTGGCT	0.642000														125			64		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62020413	62020413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62020413G>A	uc002jds.1	-	22	4138	c.4061C>T	c.(4060-4062)gCc>gTc	p.A1354V		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1354					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GATGTCGAAGGCCTGCTTCGT	0.557000														78			45		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526272	176526272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176526272C>T	uc001gkz.3	+	1	1978	c.814C>T	c.(814-816)Ctg>Ttg	p.L272L	PAPPA2_uc001gky.1_Silent_p.L272L|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	272					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCGGGAGCGGCTGCTGCTGCG	0.567000														38			12		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227898144	227898144	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:227898144C>T	uc021vxr.1	-	36	3660	c.3559G>A	c.(3559-3561)Gga>Aga	p.G1187R	COL4A4_uc021vxs.1_Missense_Mutation_p.G1187R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1187	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.G1187E(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTTTAGTTCCTTTCTGACCT	0.512000											OREG0015250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			18		0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6634900	6634900	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6634900G>A	uc001ant.3	+	2	804	c.708G>A	c.(706-708)ggG>ggA	p.G236G	TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Silent_p.G158G	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	236					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTCAGGGGATCTGCATTG	0.622000														55			34		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5011861	5011861	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5011861C>T	uc001lzv.3	+	2	372	c.354C>T	c.(352-354)tcC>tcT	p.S118S		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	118					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGAAGCCATCCGCAGTGAAAG	0.393000														66			34		0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86896591	86896591	+	Silent	SNP	C	T	T	rs147947036	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:86896591C>T	uc001dlr.4	+	3	684	c.522C>T	c.(520-522)ttC>ttT	p.F174F		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	174					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GGGGTGTGTTCGATGAGTATA	0.373000														105			50		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34782179	34782179	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34782179G>A	uc002xfb.3	+	11	1517	c.1346G>A	c.(1345-1347)gGg>gAg	p.G449E	EPB41L1_uc002xeu.3_Missense_Mutation_p.G387E|EPB41L1_uc010zvo.1_Missense_Mutation_p.G449E|EPB41L1_uc002xev.3_Missense_Mutation_p.G449E|EPB41L1_uc002xew.3_Missense_Mutation_p.G352E|EPB41L1_uc002xex.3_Missense_Mutation_p.G418E|EPB41L1_uc002xey.3_Missense_Mutation_p.G376E|EPB41L1_uc002xez.3_Missense_Mutation_p.G387E	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	449					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CATGATGCAGGGCCTGACGGT	0.602000														28			9		0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22112104	22112104	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:22112104C>T	uc004dah.3	+	6	939	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	PHEX_uc011mjr.2_Missense_Mutation_p.R246W|PHEX_uc011mjs.2_Missense_Mutation_p.R149W	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	246					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTTACAGTATCGGGATGCCCT	0.398000														36			69		0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7656797	7656797	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7656797C>G	uc001mfj.4	+	13	1597	c.1209C>G	c.(1207-1209)aaC>aaG	p.N403K	PPFIBP2_uc010rbb.1_Missense_Mutation_p.N326K|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Missense_Mutation_p.N326K|PPFIBP2_uc010rbd.1_Missense_Mutation_p.N245K|PPFIBP2_uc010rbe.2_Missense_Mutation_p.N291K|PPFIBP2_uc001mfl.4_Missense_Mutation_p.N260K|PPFIBP2_uc009yfj.1_Missense_Mutation_p.N47K	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	403					DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGGATGGGAACCAGCCCTTCC	0.418000														87			14		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	78709989	78709989	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:78709989G>A	uc001xum.1	+	1		c.1346G>A						Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.						angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGAAACTCGGAGCCTCGGCT	0.577000														69			20		0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136481641	136481641	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136481641C>T	uc002tuo.3	+	25	3449	c.3079C>T	c.(3079-3081)Cgt>Tgt	p.R1027C	R3HDM1_uc010fni.3_Missense_Mutation_p.R1026C|R3HDM1_uc002tup.3_Missense_Mutation_p.R972C|R3HDM1_uc010zbh.2_Missense_Mutation_p.R775C	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	1027							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCAACCACGTCGTCACCCCCT	0.557000														85			32		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16878310	16878310	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:16878310C>T	uc001ioo.3	-	62	10156	c.10104G>A	c.(10102-10104)atG>atA	p.M3368I		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3368	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGCAGTACTCATAGAAGAAT	0.403000														67			35		0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72945959	72945959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:72945959C>T	uc003xza.3	-	22	2963	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	930						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGTGCCAATTCATTTCTCAGA	0.378000														70			10		0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29840139	29840139	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:29840139G>A	uc001iut.1	-	5	967	c.214C>T	c.(214-216)Cga>Tga	p.R72*	SVIL_uc001iuu.1_Nonsense_Mutation_p.R72*|SVIL_uc009xld.1_Nonsense_Mutation_p.R72*	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	72	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TATTTGGATCGAGTTTGCTTT	0.473000														65			34		0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882034	68882034	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:68882034C>T	uc010yqj.2	+	1	668	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	170						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGTCCATCCGCTGAGACCACG	0.498000														96			46		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1488413	1488413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1488413G>A	uc002qwr.3	+	8	1470	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.A462T|TPO_uc002qwx.3_Missense_Mutation_p.A462T|TPO_uc002qwu.3_Missense_Mutation_p.A462T|TPO_uc010yio.2_Missense_Mutation_p.A289T|TPO_uc010yip.2_Missense_Mutation_p.A462T|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	462					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGACCCGAGGCCTTCCAGCA	0.592000														26			17		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211521331	211521331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:211521331C>T	uc010fur.3	+	30	3741	c.3659C>T	c.(3658-3660)aCc>aTc	p.T1220I	CPS1_uc002vee.4_Missense_Mutation_p.T1214I|CPS1_uc010fus.3_Missense_Mutation_p.T763I	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1214	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			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)		CCCACACAAACCATCAGCCAA	0.403000														69			18		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120332	38120332	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38120332C>T	uc003atr.3	+	6	2040	c.1769C>T	c.(1768-1770)cCc>cTc	p.P590L	TRIOBP_uc003atu.3_Missense_Mutation_p.P418L|TRIOBP_uc003atq.1_Missense_Mutation_p.P590L|TRIOBP_uc003ats.1_Missense_Mutation_p.P418L	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	590					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCTCCTCTCCCAATAGAGCT	0.572000														223			45		0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813028	176813028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176813028C>T	uc003mgk.4	+	2	254	c.150C>T	c.(148-150)ccC>ccT	p.P50P	SLC34A1_uc021yis.1_Silent_p.P50P	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	50					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGCCTTCCCCAGCCTGGGCC	0.682000														67			36		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475910	120475910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:120475910G>A	uc004bjz.3	+	2	1795	c.1504G>A	c.(1504-1506)Gac>Aac	p.D502N	TLR4_uc004bkb.3_Missense_Mutation_p.D302N|TLR4_uc004bka.3_Missense_Mutation_p.D462N	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	502					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GACCTTCCTGGACCTCTCTCA	0.438000														54			27		0	0	1	0	0
EFCAB11	90141	broad.mit.edu	37	14	90397920	90397920	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:90397920G>A	uc001xxt.3	-	4	460	c.375C>T	c.(373-375)ccC>ccT	p.P125P	EFCAB11_uc001xxs.3_Silent_p.P101P|EFCAB11_uc001xxv.1_Non-coding_Transcript|EFCAB11_uc001xxw.2_Silent_p.P101P|EFCAB11_uc001xxx.2_Silent_p.P125P	NM_145231	NP_660274	Q9BUY7	EFC11_HUMAN	Homo sapiens EF-hand calcium binding domain 11 (EFCAB11), mRNA.	125	EF-hand 2.						calcium ion binding			large_intestine(1)|lung(1)	2						CCGGTAATTTGGGAGCCACCT	0.333000														116			54		0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61511339	61511339	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:61511339C>T	uc001nsa.3	+	19	2623	c.2507C>T	c.(2506-2508)tCg>tTg	p.S836L		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	836					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TCCCTGAGCTCGCGCACTGAG	0.672000														255			99		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334447	37334448	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37334447_37334448CC>TT	uc003aqa.4	+	13	2814_2815	c.2597_2598CC>TT	c.(2596-2598)ccc>cTT	p.P866L	CSF2RB_uc003aqc.4_Missense_Mutation_p.P872L	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	866					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CAGGCTGTGCCCCAGGTGCCCG	0.594000														162			43		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170940958	170940958	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:170940958C>T	uc010plz.2	+	7	704	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S	C1orf129_uc001ghg.3_Missense_Mutation_p.P184S|C1orf129_uc009wvy.3_5'UTR	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	184							binding	p.P184H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCATGAAGATCCCTCGATTGT	0.438000														223			81		0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42778721	42778721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:42778721G>A	uc002yzf.1	+	12	1805	c.1701G>A	c.(1699-1701)atG>atA	p.M567I	MX2_uc002yzg.1_Missense_Mutation_p.M290I|MX2_uc010gop.1_Missense_Mutation_p.M49I	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	567					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CAGAAAACATGATCCAACTTC	0.368000														74			26		0	0	1	0	0
POLH	5429	broad.mit.edu	37	6	43550847	43550847	+	Missense_Mutation	SNP	C	T	T	rs113074920		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43550847C>T	uc003ovq.4	+	2	545	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	POLH_uc010jyu.2_Silent_p.F29F|POLH_uc011dvl.1_Non-coding_Transcript	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	Homo sapiens polymerase (DNA directed), eta (POLH), mRNA.	81	UmuC.				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GGCACAAGTTCGTGAGTCCCG	0.413000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum					46			17		0	0	1	0	0
ANP32C	23520	broad.mit.edu	37	4	165118245	165118245	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:165118245C>T	uc011cjk.2	-	0	619	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	207	Asp/Glu-rich (highly acidic).									NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		taaccttcttcatcctcctcg	0.507000														27			12		0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84188309	84188309	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84188309G>A	uc002fhl.4	+	3	661	c.480G>A	c.(478-480)atG>atA	p.M160I	DNAAF1_uc010chi.1_Non-coding_Transcript	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	160					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TCTTGCAAATGAACTTGCTCC	0.463000														80			35		0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438219	23438219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:23438219C>T	uc002zwu.1	+	1	874	c.337C>T	c.(337-339)Ccc>Tcc	p.P113S	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	113						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	p.G112V(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GCTGACGGGCCCCGCTGAGAG	0.692000														122			38		0	0	1	0	0
PRRG1	5638	broad.mit.edu	37	X	37312709	37312709	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:37312709C>T	uc004ddn.3	+	4	745	c.492C>T	c.(490-492)tcC>tcT	p.S164S	PRRG1_uc004ddo.3_Silent_p.S164S|PRRG1_uc022buu.1_Silent_p.S164S|PRRG1_uc022buv.1_Silent_p.S164S	NM_000950	NP_001166961	O14668	TMG1_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 1 (PRRG1), transcript variant 1, mRNA.	164						extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						CTCGCCTGTCCAATTGTGATC	0.542000														27			30		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770944	37770944	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37770944C>T	uc003asq.4	-	2	1417	c.631G>A	c.(631-633)Gac>Aac	p.D211N	ELFN2_uc021wph.1_Missense_Mutation_p.D211N	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	211	LRRCT.					cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGCAGGCGGTCGTAGTTCTTG	0.632000														21			11		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919910	4919910	+	Missense_Mutation	SNP	C	T	T	rs149897413		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4919910C>T	uc001qng.3	+	0	1569	c.703C>T	c.(703-705)Cat>Tat	p.H235Y	KCNA6_uc021qtr.1_Missense_Mutation_p.H235Y	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	235						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.H235Y(2)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CTACACATTTCATCATGGCAT	0.552000										HNSCC(72;0.22)				118			28		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451910	138451910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:138451910G>A	uc003ihe.4	-	0	1720	c.1333C>T	c.(1333-1335)Ctc>Ttc	p.L445F	PCDH18_uc003ihf.4_Missense_Mutation_p.L438F|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.L225F|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	445	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACTGTAGAGAGACTGGGTGTC	0.363000														124			53		0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68912536	68912536	+	Silent	SNP	G	A	A	rs146357166	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:68912536G>A	uc001dei.1	-	2	156	c.102C>T	c.(100-102)atC>atT	p.I34I		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	34					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GCCAGAGGGGGATCCTGCCTG	0.542000														68			21		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577764	9577764	+	Missense_Mutation	SNP	C	T	T	rs139799240	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9577764C>T	uc002mlp.1	-	9	2069	c.1859G>A	c.(1858-1860)cGa>cAa	p.R620Q	ZNF560_uc010dwr.1_Missense_Mutation_p.R514Q	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGTGTGTCTTCGTAAATGTTT	0.393000														119			46		0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35300245	35300245	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:35300245C>T	uc002hnh.2	+	4	1761	c.1038C>T	c.(1036-1038)atC>atT	p.I346I		NM_005568	NP_005559	P48742	LHX1_HUMAN	Homo sapiens LIM homeobox 1 (LHX1), mRNA.	346					S-shaped body morphogenesis|cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				TTACCGACATCCTGGCGCACC	0.741000														6			6		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104948865	104948865	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:104948865G>A	uc003yls.3	+	10	2037	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q	RIMS2_uc003ylp.3_Missense_Mutation_p.R821Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R613Q|RIMS2_uc003ylq.3_Missense_Mutation_p.R613Q|RIMS2_uc003ylr.3_Missense_Mutation_p.R660Q|RIMS2_uc003ylt.3_Missense_Mutation_p.R206Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	883					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.R613Q(3)|p.R888Q(3)|p.R599Q(3)		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)			CCAGTCCACCGAAGAGAATTT	0.388000										HNSCC(12;0.0054)				123			36		0	0	1	0	0
RHBDL3	162494	broad.mit.edu	37	17	30648242	30648243	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:30648242_30648243CC>TT	uc010csx.1	+	7	1122_1123	c.1108_1109CC>TT	c.(1108-1110)ccc>TTc	p.P370F	RHBDL3_uc002hhe.1_Missense_Mutation_p.P404S|RHBDL3_uc010csw.1_Missense_Mutation_p.P396S|RHBDL3_uc010csy.1_Missense_Mutation_p.P306S|RHBDL3_uc002hhf.1_Missense_Mutation_p.P306S			P58872	RHBL3_HUMAN	Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA.	0					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TGCCGCCTCCCCCCTGAGGGCT	0.599000														19			20		0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20443765	20443765	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20443765C>T	uc010tkx.2	+	0	88	c.88C>T	c.(88-90)Cat>Tat	p.H30Y		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGAGACAAATCATTCTCGGGT	0.388000														107			56		0	0	1	0	0
AK302694	0	broad.mit.edu	37	10	31001487	31001487	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:31001487G>A	uc010qdx.1	+	9	1471	c.929_splice	c.e9-1	p.G310_splice						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		GTAACTACAGGAAAAAAATCT	0.443000														40			17		0	0	1	0	0
C6orf223	221416	broad.mit.edu	37	6	43968437	43968437	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43968437G>A	uc003own.3	+	1	101	c.81_splice	c.e1+1	p.R27_splice	AK024736_uc003owm.1_Non-coding_Transcript|C6orf223_uc003owo.3_Splice_Site_p.R27_splice	NM_153246	NP_694978	Q8N319	CF223_HUMAN	Homo sapiens chromosome 6 open reading frame 223 (C6orf223), transcript variant 1, mRNA.	27										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			TTCTGCGGAGGGTGAGACTGA	0.632000														8			3		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155340754	155340754	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155340754G>A	uc009wqq.3	-	10	6848	c.6368C>T	c.(6367-6369)tCc>tTc	p.S2123F	ASH1L_uc001fkt.3_Missense_Mutation_p.S2118F	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2123	AWS.				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	p.P2123S(1)		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)			AGTGTTGGGGGAACACTCAGC	0.393000														50			20		0	0	1	0	0
DEGS2	123099	broad.mit.edu	37	14	100615658	100615658	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:100615658G>A	uc001ygx.2	-	1	560	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA.	158					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				AGCAGCTTGCGGGCGGGTGTG	0.662000														35			17		0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134085246	134085246	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:134085246G>A	uc003eqf.2	-	3	1356	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L	AMOTL2_uc003eqg.1_Silent_p.L355L|AMOTL2_uc003eqh.1_Silent_p.L355L|AMOTL2_uc003eqe.1_5'UTR	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	355										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGGCCTCAGAGAGCCGCTGGA	0.577000														102			8		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501770	140501770	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140501770C>A	uc003lip.1	+	0	190	c.190C>A	c.(190-192)Cgg>Agg	p.R64R		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	64	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGTCAGCCCGGGTGCTGTC	0.567000														68			22		7.41877e-09	7.44212e-09	1	1	0
C20orf26	26074	broad.mit.edu	37	20	20144725	20144725	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:20144725G>A	uc002wru.3	+	10	1172	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E	C20orf26_uc010gcw.2_Missense_Mutation_p.G307E|C20orf26_uc010zse.2_Missense_Mutation_p.G353E|C20orf26_uc010zsf.1_Missense_Mutation_p.G353E	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	353										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)		ATCTCCACTGGATATGCACAG	0.532000														72			17		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084376	53084376	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:53084376C>T	uc003xqz.2	-	4	1201	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.G314R|ST18_uc011lds.1_Missense_Mutation_p.G254R|ST18_uc003xra.2_Missense_Mutation_p.G349R|ST18_uc003xrb.2_Missense_Mutation_p.G349R	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	349						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATTTGTCTTCCACCCATGTCG	0.378000														125			43		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34129929	34129929	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34129929C>T	uc001zhi.3	+	88	11818	c.11748C>T	c.(11746-11748)ttC>ttT	p.F3916F	RYR3_uc010bar.3_Silent_p.F3911F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3916					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGACATGTTCTTGAAACTTA	0.393000														16			11		0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25261739	25261739	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:25261739C>T	uc001rgk.3	-	15	1994	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	CASC1_uc001rgj.3_Missense_Mutation_p.E592K|CASC1_uc001rgm.4_Intron|CASC1_uc001rgl.3_Missense_Mutation_p.E632K|CASC1_uc010sje.2_Missense_Mutation_p.E573K|CASC1_uc010sjf.2_Intron	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	632										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTACATGCTTCAGTAAGGTGT	0.363000														21			8		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14812906	14812906	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:14812906C>T	uc003zlm.3	-	16	3613	c.2797G>A	c.(2797-2799)Gaa>Aaa	p.E933K	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	933					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGCTGAGGTTCGCGAGCAATC	0.478000														136			72		0	0	1	0	0
SIX3	6496	broad.mit.edu	37	2	45170038	45170038	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:45170038G>A	uc002run.2	+	0	1002	c.795G>A	c.(793-795)gcG>gcA	p.A265A		NM_005413	NP_005404	O95343	SIX3_HUMAN	Homo sapiens SIX homeobox 3 (SIX3), mRNA.	265	Poly-Ala.				visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCGCCGCGGCGGCCAAGAACA	0.682000														16			12		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028281	45028282	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45028281_45028282GG>AA	uc010ejn.1	-	2	225_226	c.209_210CC>TT	c.(208-210)ccc>cTT	p.P70L	CEACAM20_uc010ejo.1_Missense_Mutation_p.P70L|CEACAM20_uc010ejp.1_Missense_Mutation_p.P70L|CEACAM20_uc010ejq.1_Missense_Mutation_p.P70L	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	70	Ig-like C2-type 1.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTGCAATGGAGGGTTTGGCCAG	0.525000														51			11		0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37366820	37366820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:37366820G>A	uc010ynh.2	-	5	1027	c.470C>T	c.(469-471)gCc>gTc	p.A157V	EIF2AK2_uc010fab.2_Missense_Mutation_p.A157V|EIF2AK2_uc010yng.2_Missense_Mutation_p.A157V|EIF2AK2_uc010fac.3_Missense_Mutation_p.A157V|EIF2AK2_uc010fad.2_Missense_Mutation_p.A157V	NM_002759	NP_002750	P19525	E2AK2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.	157	DRBM 2.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				AAGTTTAGCGGCCAATTGTTT	0.333000														127			38		0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55381392	55381392	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55381392G>A	uc003pcn.3	-	4	556	c.397C>T	c.(397-399)Cac>Tac	p.H133Y	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Missense_Mutation_p.H103Y|HMGCLL1_uc010jzx.3_Missense_Mutation_p.H4Y|HMGCLL1_uc011dxc.2_Intron|HMGCLL1_uc011dxd.2_Intron|HMGCLL1_uc003pcp.3_Intron	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	133							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACTTCAGTGTGATCAGCCATC	0.363000														83			22		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32810233	32810233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:32810233C>T	uc001utx.3	+	42	6230	c.5734C>T	c.(5734-5736)Ctc>Ttc	p.L1912F	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1912					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AATGGAAGCGCTCCTAACCTT	0.388000														50			12		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5941682	5941682	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:5941682G>A	uc001qnm.2	-	4	781	c.709C>T	c.(709-711)Cca>Tca	p.P237S	ANO2_uc021qtt.1_Missense_Mutation_p.P241S	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	242						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGTGTTCTGGAACTCGGGGC	0.507000														50			20		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4693861	4693861	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:4693861C>T	uc003bqc.3	+	10	1260	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	ITPR1_uc021wsi.1_Missense_Mutation_p.R304C|ITPR1_uc021wsj.1_Missense_Mutation_p.R304C|ITPR1_uc011asu.2_Missense_Mutation_p.R304C	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	304	MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CAGCCTTTTCCGTTTCAAGCA	0.522000														19			5		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27456001	27456001	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27456001C>T	uc002rji.3	+	18	3146	c.2984C>T	c.(2983-2985)tCt>tTt	p.S995F	CAD_uc010eyw.3_Missense_Mutation_p.S932F	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	995	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.I994I(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GATGAGATCTCTTTTGAGGTG	0.488000														34			16		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90503026	90503026	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90503026G>A	uc004app.4	+	3	3659	c.3624G>A	c.(3622-3624)agG>agA	p.R1208R		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1208						integral to membrane											AGGCCCACAGGAGGCCCAGAA	0.642000														10			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595094	179595095	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179595094_179595095GG>AA	uc021vsy.1	-	58	14525_14526	c.14300_14301CC>TT	c.(14299-14301)ccc>cTT	p.P4767L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P1428L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5694	Ig-like 28.						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)			CAAAGTAAGGGGGTTCTGAGGT	0.351000														16			6		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81864696	81864696	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:81864696G>A	uc010tvu.2	-	0	229	c.31C>T	c.(31-33)Cac>Tac	p.H11Y	STON2_uc001xvk.1_Missense_Mutation_p.H11Y|STON2_uc010atc.1_Missense_Mutation_p.H11Y	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	11					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TCTGACTGGTGGGTGGCAATC	0.517000														50			18		0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135781419	135781419	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135781419G>A	uc004cca.2	-	14	1780	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	TSC1_uc004ccb.3_Nonsense_Mutation_p.Q515*|TSC1_uc011mcq.1_Nonsense_Mutation_p.Q465*|TSC1_uc011mcr.2_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	516					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.Q516*(4)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GTCTTCCGCTGAGAACCTGGG	0.567000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					39			14		0	0	1	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978416	45978416	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45978416G>A	uc002zfj.1	-	0	228	c.183C>T	c.(181-183)gcC>gcT	p.A61A	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	61	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						TGGGCTCACAGGCCGCCTGGC	0.711000														75			33		0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72110569	72110569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:72110569G>A	uc002fby.3	+	4	666	c.636G>A	c.(634-636)aaG>aaA	p.K212K	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	Homo sapiens haptoglobin-related protein (HPR), mRNA.	212	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	p.S211*(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TACCTTCAAAGAATTATGCAG	0.458000														87			39		0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219411757	219411757	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219411757G>A	uc010fvs.1	-	6	900	c.487C>T	c.(487-489)Ctt>Ttt	p.L163F	USP37_uc002vie.2_Missense_Mutation_p.L163F|USP37_uc010zkf.1_Missense_Mutation_p.L163F|USP37_uc002vif.2_Missense_Mutation_p.L163F|USP37_uc002vig.2_Missense_Mutation_p.L91F|USP37_uc010zkg.2_Missense_Mutation_p.L163F	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	163					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.V162G(1)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GGATTACCAAGAACTTTTCGA	0.368000														104			30		0	0	1	0	0
FGF9	2254	broad.mit.edu	37	13	22275367	22275367	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:22275367C>T	uc001uog.2	+	2	1257	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	140					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GAGAACAGTTCGAAGAAAACT	0.393000														41			17		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457778	5457778	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:5457778C>T	uc003jdm.4	+	11	1247	c.1025C>T	c.(1024-1026)cCt>cTt	p.P342L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	342	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTTCCCCCTCCTCTTCTGTCA	0.463000														275			22		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50847230	50847230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:50847230C>T	uc021vhh.1	-	6	2171	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	NRXN1_uc002rxb.4_Missense_Mutation_p.G89E|NRXN1_uc021vhg.1_Missense_Mutation_p.G457E|NRXN1_uc021vhi.1_Missense_Mutation_p.G453E|NRXN1_uc021vhj.1_Missense_Mutation_p.G413E|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	417	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGGACTGCCTCCAACATAGAA	0.463000														24			11		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234112995	234112995	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234112995G>A	uc010zmo.2	+	24	3265	c.3112G>A	c.(3112-3114)Gag>Aag	p.E1038K	INPP5D_uc010zmp.2_Missense_Mutation_p.E1037K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1067	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)		CAAAGCCCAGGAGGCTGATCG	0.711000														38			17		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4933850	4933850	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:4933850C>T	uc002cyd.1	-	21	4896	c.4806G>A	c.(4804-4806)gcG>gcA	p.A1602A		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1602					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCCCAGAGTCCGCCACGGTCA	0.577000														56			29		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56520206	56520206	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56520206G>A	uc002qmj.3	+	2	495	c.495G>A	c.(493-495)aaG>aaA	p.K165K	NLRP5_uc002qmi.3_Silent_p.K165K	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	165						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GACCAAGCAAGGAAAAAGTGC	0.468000														18			4		0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40566414	40566414	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40566414C>T	uc010bbl.3	+	9	2255	c.1815C>T	c.(1813-1815)tcC>tcT	p.S605S	PAK6_uc010bbm.3_Silent_p.S605S|PAK6_uc001zky.4_Intron|PAK6_uc010bbn.3_Silent_p.S605S|PAK6_uc001zlb.3_Silent_p.S605S	NM_001128628	NP_064553	Q9NQU5	PAK6_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA.	605	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TCAGTGACTCCCCAGTGCAAG	0.572000											OREG0023057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		104			42		0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57317578	57317578	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57317578A>T	uc021qjh.1	+	6	1480	c.1478A>T	c.(1477-1479)aAg>aTg	p.K493M		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	493										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AAGACCAAGAAGAAGTGAGGA	0.602000														16			8		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43897964	43897964	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:43897964C>T	uc001cjk.2	+	35	5209	c.2599C>T	c.(2599-2601)Cct>Tct	p.P867S		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	1766						peroxisome		p.L866L(1)|p.P867H(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTCCATCTCCCTGGCCATGT	0.577000														303			113		0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117021086	117021086	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:117021086C>T	uc003vjb.2	-	8	987	c.924G>A	c.(922-924)atG>atA	p.M308I	ASZ1_uc011kno.1_Missense_Mutation_p.M308I|ASZ1_uc011knp.1_Missense_Mutation_p.M100I	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	308	SAM.				DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CATCTTCCCTCATGGTCAAAA	0.308000														240			48		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5363912	5363912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5363912G>A	uc001map.1	-	0	843	c.843C>T	c.(841-843)ttC>ttT	p.F281F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.F281F	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTAGTGGAGGGAACAGAAAAT	0.378000														65			29		0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36615272	36615272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:36615272C>T	uc021qge.1	-	0	447	c.447G>A	c.(445-447)ggG>ggA	p.G149G	RAG2_uc021qgc.1_Silent_p.G149G|RAG2_uc021qgd.1_Silent_p.G149G|RAG2_uc001mwv.4_Silent_p.G149G|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	149					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CCATACTTTTCCCTCGGCTGT	0.453000									Familial Hemophagocytic Lymphohistiocytosis					79			45		0	0	1	0	0
SENP2	59343	broad.mit.edu	37	3	185318607	185318607	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:185318607C>T	uc003fpn.3	+	4	584	c.413C>T	c.(412-414)aCc>aTc	p.T138I	SENP2_uc011brv.2_Missense_Mutation_p.T128I|SENP2_uc011brw.2_5'UTR	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	138					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GTGACAGTTACCCGAGATCAG	0.363000														202			41		0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100532314	100532314	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:100532314G>A	uc011cej.2	+	12	1878	c.1865G>A	c.(1864-1866)cGa>cAa	p.R622Q	MTTP_uc003hvc.4_Missense_Mutation_p.R595Q	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	595	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ATTGTCCGTCGAGTTCTGAAG	0.398000														85			12		0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18863935	18863935	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:18863935C>T	uc002gut.1	+	4	464	c.423C>T	c.(421-423)tcC>tcT	p.S141S	SLC5A10_uc002gur.1_Silent_p.S85S|SLC5A10_uc002guu.1_Silent_p.S141S|SLC5A10_uc002guv.1_Silent_p.S141S|SLC5A10_uc010vyl.1_Silent_p.S141S	NM_152351	NP_689564	A0PJK1	SC5AA_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 10 (SLC5A10), transcript variant 1, mRNA.	141					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CTGTCCTGTCCCTGCTACTGT	0.587000											OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			39		0	0	1	0	0
TMEM125	128218	broad.mit.edu	37	1	43738463	43738463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:43738463G>A	uc021omm.1	+	0	70	c.70G>A	c.(70-72)Gag>Aag	p.E24K	EBNA1BP2_uc001cio.3_5'Flank|TMEM125_uc021oml.1_Missense_Mutation_p.E24K|TMEM125_uc001cir.3_Missense_Mutation_p.E24K	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	Homo sapiens transmembrane protein 125 (TMEM125), mRNA.	24						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGAGCAGGTGGAGCTGTGGTG	0.721000														8			8		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769648	13769648	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13769648C>T	uc003jfd.2	-	56	9724	c.9682G>A	c.(9682-9684)Gaa>Aaa	p.E3228K	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3228	Stalk (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)					AGCTCCTTTTCTTTCGCTTCC	0.433000									Kartagener syndrome					149			65		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70501251	70501251	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:70501251C>T	uc003xyg.2	+	6	1170	c.609C>T	c.(607-609)ttC>ttT	p.F203F	SULF1_uc010lza.1_Silent_p.F203F|SULF1_uc003xyd.2_Silent_p.F203F|SULF1_uc003xye.2_Silent_p.F203F|SULF1_uc003xyf.2_Silent_p.F203F	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	203					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)			TTAATTACTTCAAAATGTCTA	0.433000														71			20		0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242383356	242383356	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:242383356G>A	uc001hzn.2	-	5	896	c.669C>T	c.(667-669)ttC>ttT	p.F223F	PLD5_uc021pll.1_Silent_p.F131F|PLD5_uc001hzl.4_Silent_p.F161F|PLD5_uc001hzm.4_Silent_p.F15F|PLD5_uc001hzo.2_Silent_p.F131F	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	223	PLD phosphodiesterase 1.					integral to membrane	catalytic activity	p.F223L(1)|p.F131L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CCACGATCCAGAAGGAGGACT	0.522000														62			8		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433848	69433848	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69433848C>T	uc021xov.1	-	0	398	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	119					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E119K(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TCAGAATATTCCCAACACAAT	0.294000														140			37		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186045650	186045650	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:186045650C>T	uc001grq.1	+	53	8610	c.8381C>T	c.(8380-8382)cCc>cTc	p.P2794L	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2794	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCAACAATCCCATTTCTCTT	0.433000														67			33		0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15874868	15874868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:15874868C>T	uc001aws.3	+	6	1088	c.968C>T	c.(967-969)gCc>gTc	p.A323V	DNAJC16_uc001awr.1_Missense_Mutation_p.A323V|DNAJC16_uc001awt.3_Missense_Mutation_p.A11V	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	323					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AATATCTACGCCCCTACCCTC	0.413000														57			17		0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227216844	227216844	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:227216844G>A	uc001hqr.3	-	28	4784	c.3841C>T	c.(3841-3843)Cct>Tct	p.P1281S	CDC42BPA_uc001hqq.3_Missense_Mutation_p.P580S|CDC42BPA_uc001hqs.3_Missense_Mutation_p.P1200S|CDC42BPA_uc009xes.3_Missense_Mutation_p.P1253S|CDC42BPA_uc010pvs.2_Missense_Mutation_p.P1261S|CDC42BPA_uc001hqp.3_Missense_Mutation_p.P437S|CDC42BPA_uc001hqt.2_Missense_Mutation_p.P159S|CDC42BPA_uc001hqu.1_Missense_Mutation_p.P488S	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	1294	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.V1280V(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GCTGACATAGGAAAAAGTCGT	0.433000														53			12		0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71472148	71472148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71472148C>T	uc003hfl.3	+	12	1146	c.1045C>T	c.(1045-1047)Ccc>Tcc	p.P349S		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	349					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AGAACCTGCTCCCCACGCAGG	0.592000														40			7		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198721736	198721736	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:198721736G>A	uc001gur.1	+	30	3518	c.3338G>A	c.(3337-3339)cGa>cAa	p.R1113Q	PTPRC_uc001gut.1_Missense_Mutation_p.R952Q	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	1113	Tyrosine-protein phosphatase 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1113R(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAAGACTCTCGAACTGTGTAC	0.368000														24			6		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140907670	140907670	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140907670G>A	uc004cog.3	+	17	2395	c.2250G>A	c.(2248-2250)gcG>gcA	p.A750A	CACNA1B_uc022bqn.1_Silent_p.A750A|CACNA1B_uc011mfd.2_Silent_p.A352A	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	750					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGTCTGCCGCGAACATCTCCA	0.592000														29			8		0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50600952	50600952	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:50600952G>A	uc001wxs.4	-	18	3062	c.2964C>T	c.(2962-2964)ttC>ttT	p.F988F	SOS2_uc010tql.2_Silent_p.F955F	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	988	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GGTTTTCAAAGAATCTCTGGA	0.289000														173			68		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7673916	7673916	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7673916C>T	uc002giu.1	+	24	4154	c.4140C>T	c.(4138-4140)ctC>ctT	p.L1380L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1380	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGACTCAGCTCGACATAGTAC	0.542000														47			29		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27720202	27720202	+	Missense_Mutation	SNP	G	A	A	rs148289865		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27720202G>A	uc002rky.3	+	1	218	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	FNDC4_uc002rkx.3_5'Flank|GCKR_uc010ezd.3_Missense_Mutation_p.R51Q|GCKR_uc010ylu.2_5'UTR	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	51					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AACATTGTTCGACTGCTAGGG	0.517000														50			30		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69050671	69050671	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:69050671G>A	uc003xxv.1	+	32	4033	c.4006G>A	c.(4006-4008)Gaa>Aaa	p.E1336K		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1336					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGCCATGTTAGAAGATACACT	0.303000														107			8		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589787	156589787	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156589787G>A	uc003lwn.3	-	1	1589	c.1489C>T	c.(1489-1491)Cgc>Tgc	p.R497C		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	497						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGCTCTTGCGAGAGGAGCCA	0.502000														148			13		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826190	43826190	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:43826190C>T	uc010skx.2	-	20	3013	c.3013G>A	c.(3013-3015)Gaa>Aaa	p.E1005K	ADAMTS20_uc001rno.1_Missense_Mutation_p.E159K|ADAMTS20_uc001rnp.1_Missense_Mutation_p.E159K	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1005	TSP type-1 4.					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)		TCTTGGCATTCATTGTCAGCA	0.428000														53			39		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299256	62299256	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62299256G>A	uc001ntl.3	-	4	2933	c.2633C>T	c.(2632-2634)cCc>cTc	p.P878L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	878					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTCATCTTGGGCATCTTCAG	0.498000														355			136		0	0	1	0	0
CLC	1178	broad.mit.edu	37	19	40225045	40225045	+	Missense_Mutation	SNP	G	A	A	rs149971661	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40225045G>A	uc002omh.3	-	2	258	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C		NM_001828	NP_001819	Q05315	LPPL_HUMAN	Homo sapiens Charcot-Leyden crystal protein (CLC), mRNA.	61	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		ATGACCACACGACGACCAAAG	0.493000														137			55		0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219249050	219249050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219249050G>A	uc002vhv.3	+	2	575	c.235G>A	c.(235-237)Gag>Aag	p.E79K	SLC11A1_uc010zkb.1_Missense_Mutation_p.E79K|SLC11A1_uc010fvp.1_Missense_Mutation_p.E79K|SLC11A1_uc010fvq.1_Missense_Mutation_p.E12K|SLC11A1_uc010zkc.1_Missense_Mutation_p.E12K|SLC11A1_uc002vhu.1_Intron|SLC11A1_uc002vhw.3_5'UTR|SLC11A1_uc010fvr.3_5'Flank	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	79	Pro/Ser-rich.				L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAAACATCGAGTCAGATCT	0.587000														140			48		0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216680433	216680433	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:216680433C>T	uc001hkw.2	-	6	1398	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	ESRRG_uc009xdp.1_Missense_Mutation_p.E386K|ESRRG_uc001hky.1_Missense_Mutation_p.E386K|ESRRG_uc001hkz.2_Missense_Mutation_p.E347K|ESRRG_uc010puc.2_Missense_Mutation_p.E386K|ESRRG_uc001hla.2_Missense_Mutation_p.E386K|ESRRG_uc001hlb.2_Missense_Mutation_p.E386K|ESRRG_uc010pud.2_Missense_Mutation_p.E224K|ESRRG_uc021pja.1_Missense_Mutation_p.E158K|ESRRG_uc001hlc.1_Missense_Mutation_p.E386K|ESRRG_uc001hld.1_Missense_Mutation_p.E386K|ESRRG_uc001hkx.2_Missense_Mutation_p.E421K|ESRRG_uc009xdo.2_Missense_Mutation_p.E386K|ESRRG_uc001hle.2_Missense_Mutation_p.E386K|ESRRG_uc021piz.1_Missense_Mutation_p.E386K	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	409					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CGAGGGTCTTCCATGTGCTGG	0.507000														85			46		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109683539	109683539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:109683539C>T	uc001tob.3	+	37	5406	c.5287C>T	c.(5287-5289)Cct>Tct	p.P1763S	ACACB_uc001toc.3_Missense_Mutation_p.P1763S|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.P429S	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1763					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.P1763L(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAACCGACTTCCTGGTGGAAA	0.507000														67			24		0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177686749	177686749	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:177686749C>T	uc021yiz.1	-	12	1061	c.703_splice	c.e12-1	p.G235_splice	COL23A1_uc021yiy.1_Splice_Site_p.G11_splice|COL23A1_uc010jkt.2_Splice_Site_p.R82_splice	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	235	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CAGGCTCACCCTGGGGGAGGC	0.607000														165			52		0	0	1	0	0
MRPL54	116541	broad.mit.edu	37	19	3762665	3762665	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3762665G>A	uc002lyq.4	+	1	1	c.-33_splice	c.e1-1		APBA3_uc002lyp.1_5'Flank	NM_172251	NP_758455	Q6P161	RM54_HUMAN	Homo sapiens mitochondrial ribosomal protein L54 (MRPL54), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCTTCCGGAAACGTGCAC	0.622000														94			45		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19335212	19335212	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19335212G>A	uc002nlz.3	+	4	847	c.748G>A	c.(748-750)Gat>Aat	p.D250N	NCAN_uc010ecc.1_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	250	Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGAACTCTACGATGTGTATTG	0.592000														97			27		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66942707	66942707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:66942707G>A	uc004dwu.2	+	6	3603	c.2488G>A	c.(2488-2490)Gaa>Aaa	p.E830K	AR_uc022byk.1_Intron|AR_uc004dwv.2_Missense_Mutation_p.E298K	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	829	Interaction with MYST2.|Ligand-binding.		L -> P (in prostate cancer).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	ATTCTTTGATGAACTTCGAAT	0.443000									Androgen Insensitivity Syndrome					16			4		0	0	1	0	0
LUZP4	51213	broad.mit.edu	37	X	114537894	114537894	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:114537894G>A	uc004eqa.3	+	2	287	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	LUZP4_uc004eqb.3_Intron	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	85						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CAACTCTGAGGAAGGAAATCA	0.343000														31			64		0	0	1	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83808025	83808025	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83808025G>A	uc002bjs.1	-	5	764	c.609C>T	c.(607-609)acC>acT	p.T203T		NM_016073	NP_057157	Q9Y3E1	HDGR3_HUMAN	Homo sapiens hepatoma-derived growth factor, related protein 3 (HDGFRP3), mRNA.	203					cell proliferation	nucleus	growth factor activity	p.G202W(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						ATGGTAGTTAGGTCTGTAAAA	0.313000														104			11		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23851691	23851691	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23851691G>A	uc001wjv.3	-	37	5813	c.5742C>T	c.(5740-5742)atC>atT	p.I1914I		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1914					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.I1914I(2)		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)		GGGACTCAGCGATGTCCGCCC	0.592000														96			42		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24432489	24432489	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24432489G>A	uc001bin.4	-	4	644	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	MYOM3_uc001bio.3_Missense_Mutation_p.R161C|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	161	Ig-like C2-type 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCGTGGGAGCGAAGAGGGATC	0.657000														62			6		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60741964	60741965	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:60741964_60741965GG>AA	uc002jad.3	+	1	576_577	c.174_175GG>AA	c.(172-177)cagggc>caAAgc	p.G59S	Y_RNA_uc021ubi.1_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	59	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGGAGGCCCAGGGCGGGCAGGT	0.619000														93			35		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091556	9091556	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9091556G>A	uc002mkp.3	-	0	463	c.259C>T	c.(259-261)Cct>Tct	p.P87S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	87	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						GTTGACTCAGGGAGAGCAGAG	0.537000														80			40		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406338	38406338	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38406338G>A	uc003jlc.2	+	6	1169	c.823G>A	c.(823-825)Gag>Aag	p.E275K	EGFLAM_uc003jlb.2_Missense_Mutation_p.E275K|EGFLAM_uc003jle.2_Missense_Mutation_p.E41K|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	275						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TATTTCCTTTGAGGAGGTAAC	0.428000														33			12		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21771626	21771626	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21771626G>A	uc001wag.3	+	4	724	c.724G>A	c.(724-726)Gag>Aag	p.E242K		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	242					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAAGTCTCCTGAGAAAATGTG	0.478000														37			26		0	0	1	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216779	26216779	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:26216779C>T	uc003ngz.2	-	0	94	c.93G>A	c.(91-93)aaG>aaA	p.K31K	HIST1H2AE_uc003nha.1_5'Flank	NM_003518	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bg (HIST1H2BG), mRNA.	31					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TACGACTGCGCTTGCGCTTCT	0.527000														230			58		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126208158	126208159	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:126208158_126208159CC>TT	uc010hsi.2	-	17	1902_1903	c.1848_1849GG>AA	c.(1846-1851)agggag>agAAag	p.E617K	UROC1_uc003eiz.2_Missense_Mutation_p.E557K	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	557					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TTGGAGGTCTCCCTAAAGGGGC	0.495000														142			38		0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32145279	32145279	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32145279G>A	uc001btk.1	-	41	3091	c.2726C>T	c.(2725-2727)cCa>cTa	p.P909L	COL16A1_uc001btj.1_Missense_Mutation_p.P722L|COL16A1_uc001btl.4_Missense_Mutation_p.P893L	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	909	Triple-helical region 4 (COL4) with 2 imperfections.		P -> L (in dbSNP:rs2229804).		cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGGAATACCTGGTGGACCCTG	0.627000														140			46		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246777	56246777	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:56246777C>T	uc002lhj.4	-	3	1445	c.1231G>A	c.(1231-1233)Ggg>Agg	p.G411R		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	411							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTCCTCACCCCAACTTCTTGG	0.572000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			13		0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75210016	75210016	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:75210016C>T	uc010dhc.3	+	16	2379	c.2059C>T	c.(2059-2061)Ctg>Ttg	p.L687L	SEC14L1_uc021udw.1_Silent_p.L687L|SEC14L1_uc021udx.1_Silent_p.L687L|SEC14L1_uc002jto.3_Silent_p.L687L|SEC14L1_uc010wth.2_Silent_p.L687L|SEC14L1_uc002jtm.3_Silent_p.L687L|SEC14L1_uc010wti.2_Silent_p.L653L|SEC14L1_uc010wtj.1_3'UTR|SEC14L1_uc002jtr.2_3'UTR	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	687					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CATGACGAGCCTGGAGTCCAG	0.667000														148			13		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634749	70634749	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70634749C>T	uc001xly.3	-	1	1145	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	SLC8A3_uc001xlw.3_Missense_Mutation_p.E131K|SLC8A3_uc001xlx.3_Missense_Mutation_p.E131K|SLC8A3_uc001xlz.3_Missense_Mutation_p.E131K|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	131					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAGACAGTTTCATTCCAGACC	0.478000														44			29		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77662359	77662359	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77662359G>A	uc011cbx.2	+	4	3986	c.3033G>A	c.(3031-3033)ctG>ctA	p.L1011L	SHROOM3_uc011cbz.1_Silent_p.L835L|SHROOM3_uc003hkf.1_Silent_p.L886L|SHROOM3_uc003hkg.3_Silent_p.L789L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1011	ASD1.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCGGCGCCTGACTCCCGAGC	0.726000														16			6		0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36117840	36117840	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:36117840G>A	uc003jkb.1	-	9	1714	c.1299C>T	c.(1297-1299)atC>atT	p.I433I		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	433						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACTGACCTCGATATAAATAT	0.333000														24			14		0	0	1	0	0
SGPP2	130367	broad.mit.edu	37	2	223386575	223386575	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:223386575G>A	uc010zlo.2	+	2	468	c.468G>A	c.(466-468)ctG>ctA	p.L156L	SGPP2_uc010zlp.2_Silent_p.L28L	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.	156					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	p.L156L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		AAAAGAGACTGATCGCTGAAT	0.522000														84			29		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997556	115997556	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:115997556C>T	uc003ibu.3	-	1	1316	c.637G>A	c.(637-639)Ggc>Agc	p.G213S	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	213	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGAAGAGGGCCTTTCTCAACC	0.408000														100			34		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544322	82544322	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82544322G>A	uc003uhx.2	-	6	13269	c.12980C>T	c.(12979-12981)tCc>tTc	p.S4327F	PCLO_uc003uhv.2_Missense_Mutation_p.S4327F|PCLO_uc010lec.3_Missense_Mutation_p.S1292F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4258					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						ATGACTAAAGGAAACATCTAG	0.423000														43			21		0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1457134	1457134	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:1457134G>A	uc002lsr.1	+	8	1307	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	APC2_uc002lss.1_5'UTR|APC2_uc002lst.1_Missense_Mutation_p.E367K|APC2_uc002lsu.1_Missense_Mutation_p.E366K	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	367					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		GGCGCGCAAGGAGATGCGCGT	0.731000														4			4		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63447955	63447955	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:63447955G>A	uc001xfx.3	-	5	628	c.577C>T	c.(577-579)Cct>Tct	p.P193S	KCNH5_uc001xfy.3_Missense_Mutation_p.P193S|KCNH5_uc001xfz.1_Missense_Mutation_p.P135S|KCNH5_uc001xga.3_Missense_Mutation_p.P135S	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	193					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTATACTGAGGAAGGATATCT	0.358000														48			28		0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1537698	1537698	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1537698C>T	uc010uvf.2	-	1	400	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	139						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GCCTTCCTTTCCCGGGCCCGC	0.706000														40			18		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142650990	142650990	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142650990C>T	uc003wcb.3	-	8	1188	c.978G>A	c.(976-978)ccG>ccA	p.P326P		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	326					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCAGGGACATCGGTGTGAATG	0.522000														166			40		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50144128	50144128	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:50144128C>T	uc010njr.2	-	7	1362	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	440					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTCCTACAGTCATCATGCACC	0.458000														2			3		0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41276491	41276491	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:41276491G>A	uc001zni.3	-	32	4194	c.3981C>T	c.(3979-3981)atC>atT	p.I1327I	INO80_uc010ucu.2_Non-coding_Transcript|INO80_uc021sjj.1_Silent_p.I121I	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	1327	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAACAAATGGGATCACCAGGT	0.478000														51			17		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17464325	17464325	+	Silent	SNP	C	T	T	rs61748766	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17464325C>T	uc001mnc.3	-	9	1698	c.1572G>A	c.(1570-1572)acG>acA	p.T524T	ABCC8_uc010rcy.1_Silent_p.T523T	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	524	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TCCTGCGGGTCGTCTCCACCC	0.597000														58			20		0	0	1	0	0
KHK	3795	broad.mit.edu	37	2	27322557	27322557	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27322557G>A	uc002ril.2	+	7	1353	c.836G>A	c.(835-837)aGa>aAa	p.R279K	KHK_uc002rim.2_Missense_Mutation_p.R279K|KHK_uc002rio.2_Missense_Mutation_p.R195K|CGREF1_uc010ylf.2_3'UTR|CGREF1_uc021vez.1_3'UTR	NM_000221	NP_000212	P50053	KHK_HUMAN	Homo sapiens ketohexokinase (fructokinase) (KHK), transcript variant a, mRNA.	279					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGCACTGAGATTCGGGTGC	0.617000														32			15		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33549452	33549452	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:33549452C>T	uc003jia.1	-	20	4325	c.4162G>A	c.(4162-4164)Gag>Aag	p.E1388K	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E1303K	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1388	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R1387H(1)|p.R1387C(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACTGAATCTCGCGTATCTTG	0.562000										HNSCC(64;0.19)				119			19		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058091	79058091	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:79058091C>T	uc002bej.4	-	18	4373	c.4162G>A	c.(4162-4164)Gtc>Atc	p.V1388I	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1388					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTCTCAGGGACTCTGTGGCTG	0.682000														75			7		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37650510	37650510	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:37650510C>T	uc002yvg.3	+	29	5905	c.5826C>T	c.(5824-5826)gcC>gcT	p.A1942A	DOPEY2_uc011aeb.2_Silent_p.A1891A	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1942					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						CACTCAGTGCCTACAATGCTC	0.522000														120			23		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8151201	8151201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8151201C>T	uc002mjf.3	-	53	6780	c.6763G>A	c.(6763-6765)Gaa>Aaa	p.E2255K	FBN3_uc002mje.3_Missense_Mutation_p.E94K	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2255	EGF-like 37; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCGTGGCATTCATTGTCATCT	0.652000														114			49		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61940042	61940042	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61940042G>A	uc011aau.2	+	7	1024	c.924G>A	c.(922-924)gtG>gtA	p.V308V	COL20A1_uc011aav.2_Silent_p.V129V	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	308	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ACCTGGGCGTGAACGTCTTCG	0.657000														8			8		0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95606832	95606832	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:95606832G>A	uc003uoc.4	+	6	827	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	DYNC1I1_uc003uod.4_Missense_Mutation_p.E167K|DYNC1I1_uc003uob.3_Missense_Mutation_p.E147K|DYNC1I1_uc003uoe.4_Missense_Mutation_p.E164K|DYNC1I1_uc010lfl.3_Missense_Mutation_p.E173K	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	184					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.E183*(1)		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)			AGAGGATGAGGAAGATGAGGA	0.368000														25			19		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56324854	56324854	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56324854G>A	uc002ivt.3	+	3	496	c.180G>A	c.(178-180)atG>atA	p.M60I	LPO_uc010dco.2_Missense_Mutation_p.M60I|LPO_uc010wnr.1_Intron|LPO_uc010wns.2_Missense_Mutation_p.M1I|LPO_uc010dcp.3_Intron|LPO_uc010dcq.3_5'Flank	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	60					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGACCGCCATGAGCTCTGAGA	0.632000														53			18		0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71634886	71634886	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:71634886G>A	uc001jql.3	+	4	938	c.402G>A	c.(400-402)ggG>ggA	p.G134G	COL13A1_uc021prz.1_Silent_p.G134G|COL13A1_uc021psa.1_Intron|COL13A1_uc021psb.1_Intron|COL13A1_uc001jqk.2_Silent_p.G134G|COL13A1_uc021psc.1_Silent_p.G134G|COL13A1_uc021psd.1_Silent_p.G134G|COL13A1_uc010qjf.2_Intron|COL13A1_uc021pse.1_Intron|COL13A1_uc021psf.1_Silent_p.G134G|COL13A1_uc021psg.1_Silent_p.G134G|COL13A1_uc021psh.1_Silent_p.G134G	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	134	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	ATCATCAGGGGGACAAAGGTG	0.547000														33			12		0	0	1	0	0
DLX4	1748	broad.mit.edu	37	17	48050471	48050471	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48050471C>T	uc002ipv.3	+	1	589	c.318C>T	c.(316-318)tcC>tcT	p.S106S	DLX4_uc002ipw.3_Silent_p.S34S|DLX4_uc021tzu.1_Silent_p.S34S	NM_138281	NP_612138	Q92988	DLX4_HUMAN	Homo sapiens distal-less homeobox 4 (DLX4), transcript variant 1, mRNA.	106					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CGGAACCCTCCGAGCGGCGCC	0.662000														51			25		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318208	3318208	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:3318208C>T	uc003ggw.3	+	1	1215	c.311C>T	c.(310-312)tCc>tTc	p.S104F	RGS12_uc003ggu.2_Missense_Mutation_p.S104F|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.S104F|RGS12_uc003ggx.1_Missense_Mutation_p.S104F	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	104						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGCTTCGAATCCTGTTCCAGT	0.473000														84			25		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281937	152281937	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152281937C>T	uc001ezu.1	-	2	5461	c.5425G>A	c.(5425-5427)Ggt>Agt	p.G1809S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1809	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCCTGACCCTCTTGGGAC	0.597000									Ichthyosis					543			128		0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209782374	209782374	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:209782374G>A	uc001hhd.3	+	7	787	c.685G>A	c.(685-687)Gag>Aag	p.E229K	CAMK1G_uc001hhf.4_Missense_Mutation_p.E229K|CAMK1G_uc001hhe.3_Missense_Mutation_p.E229K	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	229	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TAAGCTTTTCGAGAAGATCAA	0.493000														120			55		0	0	1	0	0
CLPSL1	340204	broad.mit.edu	37	6	35754847	35754847	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:35754847G>A	uc003old.4	+	1	229	c.172G>A	c.(172-174)Gag>Aag	p.E58K		NM_001010886	NP_001010886	A2RUU4	CF127_HUMAN	Homo sapiens chromosome 6 open reading frame 127 (C6orf127), mRNA.	58					digestion|lipid catabolic process	extracellular region	enzyme activator activity										AGACAATTGCGAGTCGCACTG	0.657000														21			3		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23803905	23803905	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:23803905C>T	uc003gqs.3	-	10	2203	c.2083G>A	c.(2083-2085)Gac>Aac	p.D695N	PPARGC1A_uc003gqt.3_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	695	RRM.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding	p.R694M(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TCAAAACGGTCCCTCAGTTCT	0.458000														119			13		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506994	155506994	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155506994G>A	uc003iod.1	-	4	1645	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	FGA_uc003ioe.1_Silent_p.F529F|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	529					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGAAACCTGGGAATGTTTTTC	0.473000														70			26		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7582885	7582885	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7582885G>A	uc003mxp.1	+	23	5669	c.5390G>A	c.(5389-5391)aGg>aAg	p.R1797K	DSP_uc003mxq.1_Missense_Mutation_p.R1198K|DSP_uc021yle.1_Missense_Mutation_p.R1354K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1797	Central fibrous rod domain.				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)		GCATCTAATAGGATTCAGGAA	0.373000														75			28		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126132444	126132444	+	Missense_Mutation	SNP	G	A	A	rs139824767		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:126132444G>A	uc004bnx.1	+	6	1204	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	CRB2_uc004bnw.1_Missense_Mutation_p.G371E	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	371	EGF-like 8; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGCACGGCGGAACCTGCAGT	0.602000														59			20		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21227996	21227996	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21227996G>A	uc002red.3	-	25	11872	c.11744C>T	c.(11743-11745)tCc>tTc	p.S3915F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3915					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTGCATGTGGAATCCAGGAC	0.418000														122			56		0	0	1	0	0
CCDC70	83446	broad.mit.edu	37	13	52439631	52439631	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:52439631G>A	uc010tgr.1	-	0		c.589C>T			CCDC70_uc001vfu.4_Silent_p.K39K|CCDC70_uc021rjv.1_Silent_p.K39K			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		TTCGCCAGAAGAAACTAATGC	0.488000														87			24		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047750	9047750	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9047750G>A	uc002mkp.3	-	4	34085	c.33881C>T	c.(33880-33882)tCt>tTt	p.S11294F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11296	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						GGTGACTGTAGAAGGCATAGT	0.473000														26			9		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63129901	63129901	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63129901G>A	uc010rmo.1	+	8		c.1023G>A						Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.							integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAAACCAGAGGAGGGCTTAAA	0.458000														25			12		0	0	1	0	0
C15orf26	161502	broad.mit.edu	37	15	81427637	81427637	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:81427637G>A	uc002bgb.3	+	1	123	c.96G>A	c.(94-96)aaG>aaA	p.K32K	C15orf26_uc010blp.1_Silent_p.K7K	NM_173528	NP_775799	Q6P656	CO026_HUMAN	Homo sapiens chromosome 15 open reading frame 26 (C15orf26), mRNA.	32										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TCTTAGAGAAGAGAGACAAGG	0.323000														113			18		0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2983188	2983188	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2983188G>A	uc001qlf.3	-	1	740	c.457C>T	c.(457-459)Cct>Tct	p.P153S	FOXM1_uc001qle.3_Missense_Mutation_p.P153S|FOXM1_uc009zea.3_Missense_Mutation_p.P153S|FOXM1_uc009zeb.3_Missense_Mutation_p.P153S|FOXM1_uc001qlg.3_Missense_Mutation_p.P153S	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	153					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGTGGTCTAGGAAGATTCACA	0.557000														123			16		0	0	1	0	0
C2orf80	389073	broad.mit.edu	37	2	209045522	209045522	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:209045522C>T	uc002vcr.3	-	5	485	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_001099334	NP_001092804	Q0P641	CB080_HUMAN	Homo sapiens chromosome 2 open reading frame 80 (C2orf80), mRNA.	105								p.E105E(1)		endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						TTAAAGACTTCCTCAATCGGG	0.358000														84			29		0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	120008550	120008550	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:120008550C>T	uc001pwz.3	-	0	314	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	64					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTCCTACCTTCCCCTGGCTTC	0.632000														156			53		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934633	28934633	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28934633C>T	uc002kwp.3	+	14	2686	c.2474C>T	c.(2473-2475)cCt>cTt	p.P825L	DSG1_uc010xbp.2_Missense_Mutation_p.P184L	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	825					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)			CATCCTAAGCCTATTCTCGAT	0.517000														164			67		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34002691	34002691	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34002691C>T	uc001bxm.1	-	61	9987	c.9810G>A	c.(9808-9810)ccG>ccA	p.P3270P	CSMD2_uc001bxn.1_Silent_p.P3126P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3126						integral to membrane|plasma membrane	protein binding	p.P3126P(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGTCAGGGTCGGATCTGGAT	0.517000														57			23		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497306	1497306	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:1497306C>T	uc003wpl.3	+	1	544	c.447C>T	c.(445-447)atC>atT	p.I149I	DLGAP2_uc003wpm.3_Silent_p.I149I	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	228					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCGGGCGGATCCGCCACCTGG	0.687000														10			3		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086734	92086734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92086734C>T	uc001pdj.4	+	0	1473	c.1456C>T	c.(1456-1458)Cca>Tca	p.P486S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	486	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R485L(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAAAGTGTCCCAGTGGGAAC	0.413000										TCGA Ovarian(4;0.039)				52			6		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25439060	25439060	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:25439060G>A	uc002wux.1	-	21	3876	c.3802C>T	c.(3802-3804)Ctt>Ttt	p.L1268F	NINL_uc010gdn.1_Missense_Mutation_p.L919F|NINL_uc002wuw.1_Missense_Mutation_p.L59F	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	1268					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCTCCCTGAAGGCTGAGCAGG	0.687000														58			11		0	0	1	0	0
GPD1	2819	broad.mit.edu	37	12	50497861	50497861	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:50497861G>A	uc001rvz.3	+	0	61	c.28G>A	c.(28-30)Ggc>Agc	p.G10S	GPD1_uc010smp.1_Missense_Mutation_p.G10S|GPD1_uc001rwa.3_Missense_Mutation_p.G10S	NM_005276	NP_005267	P21695	GPDA_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA.	10					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	CTGCATTGTAGGCTCCGGGAA	0.587000														95			26		0	0	1	0	0
CXCR6	10663	broad.mit.edu	37	3	45988648	45988648	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:45988648G>A	uc003cpc.1	+	1	756	c.675G>A	c.(673-675)caG>caA	p.Q225Q	FYCO1_uc003cpb.4_Intron|FYCO1_uc011bal.1_Intron|CXCR6_uc010hix.1_Silent_p.Q225Q|CXCR6_uc021www.1_Silent_p.Q225Q	NM_006564	NP_006555	O00574	CXCR6_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 6 (CXCR6), mRNA.	225					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAGGCTTCCAGAAGCACAGAT	0.498000														85			25		0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595299	44595299	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44595299C>T	uc001clp.3	+	1	414	c.356C>T	c.(355-357)cCc>cTc	p.P119L	KLF17_uc009vxf.1_Missense_Mutation_p.P82L	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	119					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGAATGTCTCCCCCTCAGCAA	0.552000														129			36		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159141570	159141570	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159141570C>T	uc001ftl.2	+	0	194	c.15C>T	c.(13-15)gcC>gcT	p.A5A	CADM3_uc009wsx.1_Silent_p.A5A|CADM3_uc009wsy.1_Silent_p.A5A|CADM3_uc001ftk.2_Silent_p.A5A	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	5					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)					GGGCCCCAGCCGCCTCGCTCC	0.751000														3			3		0	0	1	0	0
OTUB2	78990	broad.mit.edu	37	14	94510998	94510998	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94510998G>A	uc001yci.3	+	4	530	c.370G>A	c.(370-372)Gac>Aac	p.D124N		NM_023112	NP_075601	Q96DC9	OTUB2_HUMAN	Homo sapiens OTU domain, ubiquitin aldehyde binding 2 (OTUB2), mRNA.	124	OTU.				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		GGTGTTCAACGACCAGAGTGC	0.587000														45			15		0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3122903	3122903	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:3122903G>A	uc001lxk.2	-	12	1610	c.1452C>T	c.(1450-1452)gcC>gcT	p.A484A	OSBPL5_uc010qxq.1_Silent_p.A395A|OSBPL5_uc009ydw.2_Silent_p.A416A|OSBPL5_uc001lxl.2_Silent_p.A416A|OSBPL5_uc009ydx.3_Silent_p.A508A	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	484					Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGACGTGGAAGGCAGACACGG	0.637000														41			17		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48267435	48267435	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48267435G>A	uc002iqm.3	-	35	2612	c.2486C>T	c.(2485-2487)cCt>cTt	p.P829L		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	829	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.E828K(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AGCATCACCAGGTTCGCCTTT	0.657000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							65			29		0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95194801	95194801	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:95194801C>T	uc003htb.4	+	11	1783	c.1606C>T	c.(1606-1608)Ctg>Ttg	p.L536L	SMARCAD1_uc003htc.4_Silent_p.L536L|SMARCAD1_uc003htd.4_Silent_p.L536L|SMARCAD1_uc010ila.3_Silent_p.L399L|SMARCAD1_uc011cdw.2_Silent_p.L106L	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	536	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CATTGCATTTCTGGCATACCT	0.308000														38			19		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197446823	197446823	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197446823C>T	uc001gtz.3	+	11	4244	c.4035C>T	c.(4033-4035)ttC>ttT	p.F1345F	CRB1_uc010poz.2_Silent_p.F1321F|CRB1_uc009wza.3_Silent_p.F1233F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.F809F|CRB1_uc010ppd.2_Silent_p.F826F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1345					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCGACATTTTCACCACTATTG	0.438000														51			6		0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61154191	61154191	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61154191G>A	uc002liz.4	+	2	323	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	SERPINB5_uc002liy.2_Missense_Mutation_p.E61K	NM_002639	NP_002630	P36952	SPB5_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 5 (SERPINB5), mRNA.	61					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TCTTCATTTTGAAAATGTCAA	0.388000														79			34		0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331570	85331570	+	Silent	SNP	G	A	A	rs142600008		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:85331570G>A	uc001dkl.2	-	0	273	c.234C>T	c.(232-234)ttC>ttT	p.F78F	LPAR3_uc009wcj.1_Silent_p.F78F	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	78					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAATTCCAGCGAAGAAATCGG	0.433000														180			23		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10551334	10551334	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:10551334G>A	uc002czw.3	+	5	1459	c.1300G>A	c.(1300-1302)Gga>Aga	p.G434R	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.G434R|ATF7IP2_uc002czv.3_Missense_Mutation_p.G434R|ATF7IP2_uc010uyo.2_Intron|ATF7IP2_uc010uyq.2_Intron	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TTCCGAAAAAGGAAGTAAAAA	0.294000														110			43		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39496022	39496022	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39496022C>T	uc003xni.3	+	9	921	c.866C>T	c.(865-867)cCt>cTt	p.P289L	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.P265L	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	289	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.P289L(2)|p.P289F(2)|p.P289S(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GCAACATTTCCTGGCACTGTA	0.279000														59			12		0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7709559	7709559	+	Silent	SNP	C	T	T	rs139160342	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7709559C>T	uc010xjr.2	+	13	1245	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	STXBP2_uc002mha.4_Silent_p.I389I|STXBP2_uc002mhb.4_Silent_p.I386I|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_Silent_p.I17I	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	389					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGAAGCTGATCGTTCCGGTGC	0.657000														47			22		0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105843141	105843141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105843141C>T	uc001yqu.3	+	8	1342	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	PACS2_uc001yqs.2_Missense_Mutation_p.P205S|PACS2_uc001yqt.3_Missense_Mutation_p.P280S|PACS2_uc001yqv.3_Missense_Mutation_p.P280S	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA.	280					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GGAGCACATCCCCGAGGCAGA	0.677000														64			14		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968013	102968013	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:102968013G>A	uc002tbu.1	+	10	1574	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	435	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CACTGCAGTGGAAACCAACAT	0.413000														66			21		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891236	18891236	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:18891236G>A	uc001rdy.3	+	0	192	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	12					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GAAGGACAAGGAAAGAGTAAT	0.423000														91			8		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179561838	179561838	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179561838G>A	uc010pnp.2	+	1	606	c.88G>A	c.(88-90)Gag>Aag	p.E30K	TDRD5_uc021pfm.1_Missense_Mutation_p.E30K|TDRD5_uc001gnf.2_Missense_Mutation_p.E30K|TDRD5_uc021pfn.1_Missense_Mutation_p.E30K|DQ578586_uc010pno.2_5'Flank	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	30	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GAGCCCACAGGAGTTGGAGAA	0.483000														126			41		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864564	131864564	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:131864564G>A	uc003vra.4	-	19	3985	c.3756C>T	c.(3754-3756)ttC>ttT	p.F1252F		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1252						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGGCCACGATGAAAATGATGA	0.612000														23			6		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30257204	30257204	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:30257204G>A	uc002kxm.1	-	7	2066	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	560						cytosol|endoplasmic reticulum membrane		p.R560*(2)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GGGCCACTTCGACCCTCCAAA	0.478000														85			30		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756466	56756466	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56756466C>T	uc010rjp.2	+	0	78	c.78C>T	c.(76-78)atC>atT	p.I26I		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTTGGTGTATCCTCTTCATTG	0.393000														161			41		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140230471	140230471	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140230471G>A	uc003lhu.2	+	0	3115	c.2391G>A	c.(2389-2391)ggG>ggA	p.G797G	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_uc003lht.1_Silent_p.G797G	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	834					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)			ATTCAACTGGGAAGGTGGGTT	0.423000														26			33		0	0	1	0	0
FAM81B	153643	broad.mit.edu	37	5	94772593	94772593	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:94772593G>A	uc003kla.1	+	6	922	c.876G>A	c.(874-876)atG>atA	p.M292I	FAM81B_uc010jbe.1_Missense_Mutation_p.M88I	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	292										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GCCACGAAATGAACCTTTTGG	0.378000														44			15		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25885707	25885707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:25885707G>A	uc001isj.3	+	9	2194	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	GPR158_uc001isk.3_Missense_Mutation_p.E87K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	712						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P711S(1)|p.P711Q(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTTGGATCCAGAGGACATTCG	0.488000														72			20		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30961695	30961695	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:30961695G>A	uc003tbv.2	+	1	509	c.399G>A	c.(397-399)gtG>gtA	p.V133V	FAM188B_uc011kac.1_Silent_p.V193V|FAM188B_uc010kwf.1_Silent_p.V50V|FAM188B_uc010kwh.1_Silent_p.V82V|FAM188B_uc022abh.1_Silent_p.V18V	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGATGGTGTGAACTCGGGCC	0.652000														77			29		0	0	1	0	0
LIPK	643414	broad.mit.edu	37	10	90492287	90492287	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:90492287C>T	uc010qmv.2	+	4	648	c.648C>T	c.(646-648)acC>acT	p.T216T		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	Homo sapiens lipase, family member K (LIPK), mRNA.	216					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		AACTAACAACCCTTTCCAGGC	0.363000														201			55		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39504228	39504228	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:39504228G>A	uc003thb.2	+	10	2162	c.2019G>A	c.(2017-2019)gaG>gaA	p.E673E	POU6F2_uc022acb.1_Silent_p.E637E	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	673					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AACAGCACGAGCCGGCCACGG	0.453000														10			8		0	0	1	0	0
NXPH4	11247	broad.mit.edu	37	12	57619175	57619175	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57619175C>T	uc010srf.2	+	1	747	c.572C>T	c.(571-573)cCc>cTc	p.P191L	NXPH4_uc009zpj.3_5'UTR	NM_007224	NP_009155	O95158	NXPH4_HUMAN	Homo sapiens neurexophilin 4 (NXPH4), mRNA.	191	IV (linker domain).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGCTGGGGCCCCCGCTGGGG	0.756000														40			20		0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776758	5776758	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5776758C>T	uc001mbu.3	+	0	836	c.788C>T	c.(787-789)tCc>tTc	p.S263F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TCCTTCTTTTCCCACCGCTTT	0.478000														142			45		0	0	1	0	0
PLGLA	285189	broad.mit.edu	37	2	107004058	107004058	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:107004058G>A	uc002tdp.3	+	1		c.147G>A								Homo sapiens plasminogen-like A (PLGLA), non-coding RNA.																		TGTGATAATGGCTGAAAACAA	0.348000														190			54		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94512578	94512578	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94512578C>T	uc001dqh.3	-	18	2919	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K	ABCA4_uc010otn.1_Missense_Mutation_p.E865K	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	939	ABC transporter 1.				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)		CCACAGGGCTCAAAAATCTTT	0.507000														249			24		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321663	52321663	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:52321663G>A	uc003xqu.4	-	16	2622	c.2521C>T	c.(2521-2523)Cct>Tct	p.P841S	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	841					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGGAAACAAGGAGGGTCGTTG	0.692000														27			9		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140414484	140414484	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140414484G>A	uc010ncj.1	-	10	1306	c.969C>T	c.(967-969)gcC>gcT	p.A323A	PNPLA7_uc011mfa.1_Silent_p.A29A|PNPLA7_uc004cnf.2_Silent_p.A298A	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	298			R -> Q (in dbSNP:rs11137410).		lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CGAGAGGGATGGCCTGGCTCT	0.597000														161			75		0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125805234	125805234	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:125805234G>A	uc001lhn.3	-	1	1229	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CHST15_uc001lhm.3_Silent_p.F165F|CHST15_uc010que.2_Silent_p.F165F|CHST15_uc001lho.3_Silent_p.F165F	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	165					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GTCTGGTCGTGAACTCAATCC	0.383000														284			109		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49700328	49700328	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49700328G>A	uc003cxe.4	+	6	10851	c.10737G>A	c.(10735-10737)gaG>gaA	p.E3579E		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3579					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGGGCCAGGAGGAGACGGACT	0.612000														75			25		0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	109001422	109001422	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:109001422C>T	uc003yms.3	-	2	803	c.145G>A	c.(145-147)Gac>Aac	p.D49N	RSPO2_uc003ymq.3_5'UTR|RSPO2_uc003ymr.3_Intron	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	49					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CACCCATTGTCCTTTGAACAA	0.403000														55			22		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49386169	49386169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:49386169G>A	uc001jgi.3	-	21	3147	c.2816C>T	c.(2815-2817)tCa>tTa	p.S939L	FRMPD2_uc001jgh.3_Missense_Mutation_p.S907L|FRMPD2_uc001jgj.3_Missense_Mutation_p.S908L|FRMPD2_uc001jgf.3_5'Flank|FRMPD2_uc001jgg.3_5'Flank|FRMPD2_uc001jgk.3_5'UTR	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	939					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			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)		TTCTGGAGGTGATGGAGGACA	0.423000														27			12		0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89199393	89199393	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:89199393G>A	uc003hrm.4	-	1	733	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	PPM1K_uc010ikp.1_Nonsense_Mutation_p.Q115*|PPM1K_uc003hrn.3_Nonsense_Mutation_p.Q115*	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1K (PPM1K), nuclear gene encoding mitochondrial protein, mRNA.	115	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TCTGTCAGCTGAGCGAAGTCA	0.463000														19			17		0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913356	77913356	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:77913356G>A	uc022bzi.1	-	0	562	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	ZCCHC5_uc004edc.1_Missense_Mutation_p.P188S	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	188	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						GGCTCCTGGGGAGGTGGAAGC	0.542000														18			21		0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288790	125288790	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125288790G>A	uc004bmn.1	-	0	783	c.783C>T	c.(781-783)ccC>ccT	p.P261P		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AGGCAATGGAGGGAGGACACA	0.527000														58			9		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226490	23226490	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23226490C>T	uc002dlm.1	+	12	1789	c.1650C>T	c.(1648-1650)atC>atT	p.I550I		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	550					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCGAGATCATCGAGGTCTTCT	0.557000														64			15		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201196111	201196111	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201196111G>A	uc001gwc.3	+	22	11018	c.10888G>A	c.(10888-10890)Gag>Aag	p.E3630K	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						CCAGGGCTGCGAGTGCTGCAT	0.677000														81			45		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908728	103908728	+	Missense_Mutation	SNP	G	A	A	rs148474807	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:103908728G>A	uc001phr.2	+	0	1421	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	393					proteolysis		aspartic-type endopeptidase activity	p.R393*(1)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GATTCAGGACGAAAAGAGCAT	0.428000														52			9		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069466	6069466	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:6069466G>A	uc010ndi.3	-	1	506	c.42C>T	c.(40-42)ttC>ttT	p.F14F	NLGN4X_uc004crp.3_Silent_p.F14F|NLGN4X_uc010ndh.3_Silent_p.F14F|NLGN4X_uc004crq.3_Silent_p.F14F|NLGN4X_uc004crr.3_Silent_p.F14F|NLGN4X_uc010ndj.3_Silent_p.F14F	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	14					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.F14L(2)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGACCGGGGTGAACAACAAAG	0.512000														21			22		0	0	1	0	0
ACSS1	84532	broad.mit.edu	37	20	25003624	25003624	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:25003624G>A	uc002wub.3	-	4	992	c.912C>T	c.(910-912)atC>atT	p.I304I	ACSS1_uc002wuc.3_Silent_p.I304I|ACSS1_uc021wbm.1_Silent_p.I304I|ACSS1_uc010gdc.3_Intron|ACSS1_uc002wua.3_Silent_p.I221I|ACSS1_uc021wbl.1_Silent_p.I183I|ACSS1_uc002wud.1_Non-coding_Transcript	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	304					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGTATGGACGATGCCCTTGG	0.637000														26			9		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160050863	160050863	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:160050863C>T	uc002uag.3	+	16	3112	c.2838C>T	c.(2836-2838)ggC>ggT	p.G946G	TANC1_uc010zcm.2_Silent_p.G938G|TANC1_uc010fom.1_Silent_p.G752G	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	946						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTCACCTTGGCCACGAGGAAG	0.557000														65			27		0	0	1	0	0
TAPBP	6892	broad.mit.edu	37	6	33281164	33281164	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33281164G>A	uc003odx.2	-	2	645	c.299C>T	c.(298-300)cCc>cTc	p.P100L	TAPBP_uc010jut.2_Intron|TAPBP_uc003odz.3_Missense_Mutation_p.P100L|TAPBP_uc003ody.3_Missense_Mutation_p.P100L|TAPBP_uc011drc.2_Missense_Mutation_p.P100L	NM_003190	NP_003181	O15533	TPSN_HUMAN	Homo sapiens TAP binding protein (tapasin) (TAPBP), transcript variant 1, mRNA.	100					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|TAP1 binding|TAP2 binding|peptide antigen binding|peptide antigen-transporting ATPase activity|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CGCAGAGGCGGGGAGAGGCAC	0.706000														31			4		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73635892	73635892	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:73635892G>A	uc002avp.3	-	1	2037	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	348					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGGGATGGAGGAAATGAAATC	0.537000														62			22		0	0	1	0	0
FLVCR1	28982	broad.mit.edu	37	1	213046096	213046096	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:213046096C>T	uc001hjt.3	+	2	1158	c.960C>T	c.(958-960)tcC>tcT	p.S320S		NM_014053	NP_054772	Q9Y5Y0	FLVC1_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor 1 (FLVCR1), mRNA.	320					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		AAGAGTACTCCTATAAGAAAT	0.383000														54			14		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825586	26825586	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:26825586C>T	uc001zbb.3	-	6	833	c.730G>A	c.(730-732)Gac>Aac	p.D244N	GABRB3_uc021sgg.1_Missense_Mutation_p.D117N|GABRB3_uc021sgh.1_Missense_Mutation_p.D103N|GABRB3_uc001zaz.3_Missense_Mutation_p.D188N|GABRB3_uc001zba.3_Missense_Mutation_p.D188N	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	188					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.G244*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AACTCAATGTCATCCGTGGTG	0.507000														80			30		0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51446957	51446957	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51446957C>T	uc002pue.3	-	6	1030	c.812G>A	c.(811-813)aGa>aAa	p.R271K	KLK5_uc002puf.3_Missense_Mutation_p.R271K|KLK5_uc002pug.3_Missense_Mutation_p.R271K	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	271	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GACACCCGGTCTGTTGGGCCG	0.597000														86			20		0	0	1	0	0
ANO6	196527	broad.mit.edu	37	12	45742408	45742408	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:45742408C>T	uc010slf.2	+	6	1139	c.804C>T	c.(802-804)ctC>ctT	p.L268L	ANO6_uc001roo.3_Silent_p.L247L|ANO6_uc010sld.1_Silent_p.L247L|ANO6_uc010sle.1_Silent_p.L247L|ANO6_uc010slg.2_Silent_p.L229L	NM_001204803	NP_001191732	Q4KMQ2	ANO6_HUMAN	Homo sapiens anoctamin 6 (ANO6), transcript variant 5, mRNA.	247					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTTCCCACTCCATGATGTAA	0.403000														72			13		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38482250	38482250	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38482250C>T	uc010ive.1	-	19	3073	c.2741G>A	c.(2740-2742)cGa>cAa	p.R914Q	LIFR_uc003jli.2_Missense_Mutation_p.R914Q	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	914					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAATGCTGATCGAGTTTCCAG	0.388000			T	PLAG1	salivary adenoma									93			44		0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62415387	62415387	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62415387G>A	uc001nud.3	-	1	2218	c.2165C>T	c.(2164-2166)tCt>tTt	p.S722F	GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	722					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGAAGCCAAAGAAGCTGAAAC	0.537000														69			10		0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197596851	197596851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:197596851C>T	uc002utp.1	+	26	3299	c.3164C>T	c.(3163-3165)tCt>tTt	p.S1055F	CCDC150_uc010zgs.1_Missense_Mutation_p.S702F	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	1055										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CAGAGGCCTTCTGGGGAAGAC	0.423000														73			22		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584064	88584064	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:88584064G>A	uc003hqv.3	+	5	1238	c.1134G>A	c.(1132-1134)caG>caA	p.Q378Q	DMP1_uc003hqw.3_Silent_p.Q362Q	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	378					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TAGAAGACCAGGAAGACAGTG	0.532000														167			50		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215848384	215848384	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:215848384C>T	uc002vew.3	-	28	4589	c.4369G>A	c.(4369-4371)Gag>Aag	p.E1457K	ABCA12_uc002vev.3_Missense_Mutation_p.E1139K|ABCA12_uc010zjn.2_Missense_Mutation_p.E384K	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1457	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTACTTCCTCGTGGAGCTGC	0.433000														77			16		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167298029	167298029	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:167298029G>A	uc002udu.2	-	13	2164	c.2034C>T	c.(2032-2034)ttC>ttT	p.F678F	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	678					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACACATTCAGGAAGGAGTGGA	0.463000														51			20		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31902026	31902026	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31902026G>A	uc003nyf.3	+	5	1063	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.E267K|CFB_uc010jtk.3_Missense_Mutation_p.E135K|CFB_uc011doq.2_Missense_Mutation_p.E238K|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	283					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.S266S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GAGTGTGTCGGAAAATGACTT	0.532000														241			66		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70505136	70505136	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:70505136C>T	uc011caq.2	-	2	942	c.826G>A	c.(826-828)Gat>Aat	p.D276N	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.D75N|UGT2A1_uc021xox.1_Missense_Mutation_p.D75N|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	66					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ACAGGAGAATCGGGATTGGAG	0.353000														83			41		0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71712665	71712665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:71712665G>A	uc001jql.3	+	37	2589	c.2053G>A	c.(2053-2055)Ggg>Agg	p.G685R	COL13A1_uc021prz.1_Missense_Mutation_p.G636R|COL13A1_uc021psa.1_Missense_Mutation_p.G613R|COL13A1_uc021psb.1_Intron|COL13A1_uc001jqk.2_Missense_Mutation_p.G663R|COL13A1_uc021psc.1_Missense_Mutation_p.G654R|COL13A1_uc021psd.1_Missense_Mutation_p.G636R|COL13A1_uc010qjf.2_Missense_Mutation_p.G613R|COL13A1_uc021pse.1_Intron|COL13A1_uc021psf.1_Missense_Mutation_p.G685R|COL13A1_uc021psg.1_Missense_Mutation_p.G663R|COL13A1_uc021psh.1_Missense_Mutation_p.G654R	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	685	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AGGCTCTAGAGGGCCTAAAGG	0.428000														64			21		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32698944	32698944	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:32698944C>T	uc001utx.3	+	6	1144	c.648C>T	c.(646-648)ccC>ccT	p.P216P	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACCTTGGTCCCAACACTGGCA	0.428000														149			14		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43500853	43500853	+	Missense_Mutation	SNP	C	T	T	rs143974871	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43500853C>T	uc001zrb.4	-	6	1343	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	EPB42_uc001zqz.4_5'UTR|EPB42_uc001zra.4_Missense_Mutation_p.G318D|EPB42_uc010udm.2_Missense_Mutation_p.G240D	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	318					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GCCTCTCTGGCCTTCTCCGTT	0.587000														332			30		0	0	1	0	0
RIOK3	8780	broad.mit.edu	37	18	21053552	21053552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:21053552C>T	uc002kui.4	+	7	1592	c.975C>T	c.(973-975)atC>atT	p.I325I	RIOK3_uc010dls.3_Silent_p.I325I|RIOK3_uc010xas.2_Silent_p.I309I|RIOK3_uc010xat.2_Intron	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	325	Protein kinase.			I -> H (in Ref. 1; AAC26080).	chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTAAGATCATCCGCATGTGGG	0.323000														50			7		0	0	1	0	0
UBTFL1	642623	broad.mit.edu	37	11	89819516	89819516	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:89819516C>T	uc010rub.2	+	0	399	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I-like 1 (UBTFL1), mRNA.	133					multicellular organismal development	cytoplasm|nucleus	DNA binding										TGACCAAAATCCTGTCAAAGA	0.448000														8			4		0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53072446	53072446	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53072446G>A	uc001sau.1	-	1	745	c.686C>T	c.(685-687)cCc>cTc	p.P229L	KRT1_uc001sav.1_Missense_Mutation_p.P229L	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	229	Linker 1.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CTCAAAGTAGGGCTCTAAATT	0.468000														100			16		0	0	1	0	0
HEXB	3074	broad.mit.edu	37	5	73981299	73981299	+	Missense_Mutation	SNP	C	T	T	rs147155126	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:73981299C>T	uc003kdf.4	+	0	331	c.214C>T	c.(214-216)Ctc>Ttc	p.L72F	HEXB_uc003kdd.3_Intron	NM_000521	NP_000512	P07686	HEXB_HUMAN	Homo sapiens hexosaminidase B (beta polypeptide) (HEXB), mRNA.	72					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		CCTGCTGCATCTCGCCCCGGA	0.706000														37			4		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306867	54306867	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54306867G>A	uc021smr.1	+	0	1767	c.1767G>A	c.(1765-1767)agG>agA	p.R589R	UNC13C_uc021sms.1_Silent_p.R589R	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	589					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)		TATGGCAGAGGAAACAGGAAG	0.463000														51			26		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126882788	126882788	+	Silent	SNP	G	A	A	rs146190169	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:126882788G>A	uc003vlr.2	-	0	782	c.471C>T	c.(469-471)tcC>tcT	p.S157S	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.S157S|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	157					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGATGGACACGGAGCTTGCTG	0.428000										HNSCC(24;0.065)				113			13		0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109717725	109717725	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:109717725C>T	uc001toe.4	-	9	1410	c.1305G>A	c.(1303-1305)tgG>tgA	p.W435*	FOXN4_uc009zvg.3_Nonsense_Mutation_p.W232*|FOXN4_uc001tof.4_Nonsense_Mutation_p.W255*	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	435					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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			large_intestine(5)|lung(9)|ovary(2)	16						TCATCTCCTCCCACAGGTTCC	0.557000														41			10		0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70189923	70189923	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70189923C>T	uc001opo.3	+	14	2071	c.1856C>T	c.(1855-1857)cCc>cTc	p.P619L	PPFIA1_uc001opn.2_Missense_Mutation_p.P619L|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	619					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTGCTATCGCCCAGCGGGCAG	0.552000														42			7		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72169145	72169145	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:72169145C>T	uc001xms.3	+	11	3930	c.3569C>T	c.(3568-3570)aCc>aTc	p.T1190I	SIPA1L1_uc001xmt.3_Missense_Mutation_p.T1190I|SIPA1L1_uc001xmu.3_Missense_Mutation_p.T1190I|SIPA1L1_uc001xmv.3_Missense_Mutation_p.T1190I|SIPA1L1_uc010ttm.2_Missense_Mutation_p.T665I	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1190					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGGCAGAACACCCAGTCAGAT	0.498000														49			28		0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15107640	15107640	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15107640C>T	uc001int.2	+	6	873	c.619C>T	c.(619-621)Cat>Tat	p.H207Y	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.H154Y	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	154					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						ACAAATAAGTCATTACCTTAT	0.403000														51			15		0	0	1	0	0
LOC344967	344967	broad.mit.edu	37	4	40045554	40045554	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:40045554G>A	uc011byr.1	-	2	596	c.102C>T	c.(100-102)ttC>ttT	p.F34F						Homo sapiens acyl-CoA thioesterase 7 pseudogene (LOC344967), non-coding RNA.																		TGGGCCACAGGAAGTGGGTGC	0.612000														10			4		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625528	140625528	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140625528G>A	uc003lje.3	+	0	382	c.382G>A	c.(382-384)Gat>Aat	p.D128N		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	128	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACATAAACGATCATTCTCC	0.438000														143			57		0	0	1	0	0
MSMB	4477	broad.mit.edu	37	10	51555737	51555737	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:51555737C>T	uc001jiq.3	+	1	42	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|MSMB_uc001jir.3_Missense_Mutation_p.L4F	NM_002443	NP_002434	P08118	MSMB_HUMAN	Homo sapiens microseminoprotein, beta- (MSMB), transcript variant PSP94, mRNA.	4						extracellular space|nucleus				lung(4)|ovary(2)|prostate(1)	7						ACAGAATGTTCTCCTGGGCAG	0.458000														40			17		0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71740883	71740883	+	Missense_Mutation	SNP	G	A	A	rs146975565		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:71740883G>A	uc002llf.2	-	9	1426	c.1346C>T	c.(1345-1347)tCg>tTg	p.S449L	FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Missense_Mutation_p.S373L	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	373										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TGTGGCAGGCGATCTCAGGCA	0.502000														197			55		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84270636	84270636	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:84270636G>A	uc021zcf.1	-	25	2503	c.2473C>T	c.(2473-2475)Cct>Tct	p.P825S	SNAP91_uc011dzd.2_Missense_Mutation_p.P323S|SNAP91_uc003pka.3_Missense_Mutation_p.P823S|SNAP91_uc011dze.2_Missense_Mutation_p.P823S|SNAP91_uc003pkc.3_Missense_Mutation_p.P795S|SNAP91_uc003pkd.3_Missense_Mutation_p.P518S|SNAP91_uc003pkb.3_Missense_Mutation_p.P734S	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	825	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCAACAGGAGGAACTGAACTG	0.423000														11			14		0	0	1	0	0
ORM1	5004	broad.mit.edu	37	9	117087345	117087345	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117087345G>A	uc004bik.4	+	4	564	c.453G>A	c.(451-453)acG>acA	p.T151T	ORM1_uc011lxo.2_Intron	NM_000607	NP_000598	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 1 (ORM1), mRNA.	151					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	AGCCAGAGACGACCAAGGAGC	0.607000														63			5		0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55814181	55814181	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55814181C>T	uc002qkf.3	+	11	1149	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	BRSK1_uc021vbs.1_Missense_Mutation_p.S325L|BRSK1_uc002qkg.3_Missense_Mutation_p.S325L|BRSK1_uc002qkh.3_Missense_Mutation_p.S20L|Mir_324_uc021vbt.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	325	UBA.				G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.R340H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AGCATGGCATCACTGGGCTGC	0.682000														60			24		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26228908	26228908	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26228908C>T	uc003abz.1	+	15	3254	c.3004C>T	c.(3004-3006)Ctc>Ttc	p.L1002F	MYO18B_uc003aca.1_Missense_Mutation_p.L883F|MYO18B_uc010guy.1_Missense_Mutation_p.L883F|MYO18B_uc010guz.1_Missense_Mutation_p.L883F|MYO18B_uc011aka.1_Missense_Mutation_p.L156F|MYO18B_uc011akb.1_Missense_Mutation_p.L515F	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1002	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						GCAGTTTGACCTCCCGGACCC	0.507000														88			11		0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173934254	173934254	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:173934254G>A	uc010pmt.2	-	8	1426	c.1339C>T	c.(1339-1341)Cgt>Tgt	p.R447C	RC3H1_uc001gju.4_Missense_Mutation_p.R447C|RC3H1_uc010pms.2_Missense_Mutation_p.R447C|RC3H1_uc001gjv.3_Missense_Mutation_p.R447C	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	447					cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TTCATTTTACGAAATCTATAT	0.368000														56			18		0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127262850	127262851	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:127262850_127262851GG>AA	uc004boo.1	-	3	575_576	c.388_389CC>TT	c.(388-390)ccg>TTg	p.P130L	NR5A1_uc022bnh.1_Missense_Mutation_p.P130L	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	130					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						AGGGGGCGGCGGGGGCACCCCC	0.703000														25			5		0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266304	3266304	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3266304G>A	uc010uwv.2	+	0	743	c.595G>A	c.(595-597)Gga>Aga	p.G199R						Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA.																		ATCCACAAAGGGAAGATGGAA	0.522000														43			15		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19070876	19070876	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19070876G>A	uc002dfp.2	+	14	2296	c.2166G>A	c.(2164-2166)agG>agA	p.R722R	TMC7_uc002dfq.3_Intron|TMC7_uc010vap.2_Intron	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	111						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ACACTGCAAGGAAAGTGCTGT	0.557000														28			9		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73676650	73676650	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:73676650C>T	uc002sje.1	+	7	3104	c.2993C>T	c.(2992-2994)cCt>cTt	p.P998L	ALMS1_uc002sjf.1_Missense_Mutation_p.P956L|ALMS1_uc002sjg.3_Missense_Mutation_p.P386L|ALMS1_uc002sjh.1_Missense_Mutation_p.P386L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	998	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCAACAGTACCTTCAGGTTCC	0.453000														120			50		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91827259	91827259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:91827259G>A	uc002bqv.3	+	11	2407	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.E355K	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	506					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AGACCTCTACGAGCACAAGTT	0.512000														334			34		0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113298936	113298936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:113298936G>A	uc003ian.4	+	2	230	c.3G>A	c.(1-3)atG>atA	p.M1I	ALPK1_uc003iam.3_Missense_Mutation_p.M1I|ALPK1_uc011cfw.1_Non-coding_Transcript|ALPK1_uc003iap.4_Missense_Mutation_p.M1I|ALPK1_uc011cfx.2_5'UTR|ALPK1_uc003iao.4_Non-coding_Transcript	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	1							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TAATCATCATGAATAATCAAA	0.473000														194			49		0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113817030	113817030	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113817030G>A	uc002tis.3	+	1	148	c.15G>A	c.(13-15)ggG>ggA	p.G5G	IL36RN_uc002tit.3_Silent_p.G5G	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA.	5						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCCTGAGTGGGGCGCTGTGCT	0.552000														54			16		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780987	88780987	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:88780987C>T	uc001pcq.3	-	0	254	c.54G>A	c.(52-54)ggG>ggA	p.G18G	GRM5_uc009yvm.3_Silent_p.G18G|GRM5_uc009yvn.2_Silent_p.G18G	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	18					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R17C(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ACTGTGCACTCCCACGGACAT	0.468000														70			31		0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71027107	71027107	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:71027107G>A	uc003dol.3	-	10	1543	c.1220C>T	c.(1219-1221)cCa>cTa	p.P407L	FOXP1_uc003dom.3_Missense_Mutation_p.P331L|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.P407L|FOXP1_uc003doo.3_Missense_Mutation_p.P407L|FOXP1_uc003dop.3_Missense_Mutation_p.P407L|FOXP1_uc021xao.1_Missense_Mutation_p.P407L|FOXP1_uc003doq.1_Missense_Mutation_p.P406L|FOXP1_uc003doi.3_Missense_Mutation_p.P307L|FOXP1_uc003dok.3_Missense_Mutation_p.P333L|FOXP1_uc003doj.3_Missense_Mutation_p.P409L|FOXP1_uc003dor.1_Missense_Mutation_p.P185L	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	407					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	p.P407A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TGGGGTCGTTGGAGTATGAGG	0.557000			T	PAX5	ALL									156			13		0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56144898	56144898	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:56144898C>T	uc002rzi.3	-	4	920	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	EFEMP1_uc002rzj.3_Missense_Mutation_p.R140Q|EFEMP1_uc010ypc.2_Missense_Mutation_p.R82Q	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	140					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGGTTCCGCCGGATGACAAA	0.582000														99			14		0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80667094	80667094	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:80667094G>A	uc002ffs.3	-	2	761	c.656C>T	c.(655-657)cCa>cTa	p.P219L		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	219						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						CCTCTTCACTGGACTGTGCAG	0.483000														109			35		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059584	11059584	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:11059584C>T	uc010hdq.3	+	3	705	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	98					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TCCCACTCTTCCTGCTGGAGT	0.567000														106			43		0	0	1	0	0
LCN6	158062	broad.mit.edu	37	9	139641983	139641983	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139641983G>A	uc004ciy.2	-	1	168	c.123C>T	c.(121-123)gcC>gcT	p.A41A	LCN10_uc004ciw.3_Non-coding_Transcript|LOC100128593_uc004ciz.1_Non-coding_Transcript	NM_198946	NP_945184	P62502	LCN6_HUMAN	Homo sapiens lipocalin 6 (LCN6), mRNA.	41					single fertilization	extracellular region	binding			lung(3)|upper_aerodigestive_tract(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)		TTTCCCGGGAGGCCACCGCAA	0.637000														48			16		0	0	1	0	0
SSX3	10214	broad.mit.edu	37	X	48213490	48213490	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:48213490C>T	uc004djd.1	-	3	318	c.224G>A	c.(223-225)cGg>cAg	p.R75Q	SSX3_uc004dje.3_Missense_Mutation_p.R75Q|SSX3_uc010nic.3_Missense_Mutation_p.R75Q	NM_021014	NP_066294	Q99909	SSX3_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA.	75	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						GTCTGTGACCCGTTTATTACG	0.483000														100			16		0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40827457	40827457	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:40827457G>A	uc003ayv.1	-	2	298	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	MKL1_uc010gyf.1_Missense_Mutation_p.R31C|MKL1_uc003ayw.1_Missense_Mutation_p.R31C|MKL1_uc010gye.1_Missense_Mutation_p.R31C	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	31	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCCGGGAACGAATCTTCCGT	0.473000			T	RBM15	acute megakaryocytic leukemia									177			94		0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31155153	31155153	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31155153G>A	uc002ebd.3	-	6	785	c.726C>T	c.(724-726)gaC>gaT	p.D242D	PRSS36_uc010vff.2_Silent_p.D17D|PRSS36_uc010vfg.2_Silent_p.D242D|PRSS36_uc010vfh.2_Silent_p.D242D	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	242	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GCCCCCCAGAGTCACCCTAGT	0.597000														53			6		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629474	47629474	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:47629474G>A	uc001rpq.3	+	1	1153	c.628G>A	c.(628-630)Gat>Aat	p.D210N	FAM113B_uc001rpn.3_Missense_Mutation_p.D210N|FAM113B_uc021qxi.1_Missense_Mutation_p.D210N	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	210							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					ACATAACTTCGATGTACTGGA	0.587000														15			9		0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27168522	27168522	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:27168522G>A	uc003xfl.1	-	0	313	c.231C>T	c.(229-231)aaC>aaT	p.N77N	PTK2B_uc003xfn.2_5'Flank|TRIM35_uc010lup.1_Silent_p.N77N|TRIM35_uc003xfm.1_Non-coding_Transcript	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA.	77					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		TCTCCACCAGGTTGTTGAGGG	0.697000														9			5		0	0	1	0	0
AGPAT2	10555	broad.mit.edu	37	9	139571924	139571924	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139571924G>A	uc004cii.1	-	1	369	c.267C>T	c.(265-267)gcC>gcT	p.A89A	AGPAT2_uc004cij.1_Silent_p.A89A	NM_006412	NP_006403	O15120	PLCB_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) (AGPAT2), transcript variant 1, mRNA.	89					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CACAGGGACGGGCCTCCTGCA	0.652000														51			19		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108380691	108380691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:108380691C>T	uc001pkk.3	-	5	5654	c.5543G>A	c.(5542-5544)aGa>aAa	p.R1848K	EXPH5_uc010rvz.2_Missense_Mutation_p.R1692K|EXPH5_uc010rvy.2_Missense_Mutation_p.R1660K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1848					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGATCTGAATCTTCGACTGTA	0.458000														41			22		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067623	9067623	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9067623G>A	uc002mkp.3	-	2	20027	c.19823C>T	c.(19822-19824)tCg>tTg	p.S6608L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6610	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						TGGGACAGACGAATAAGATTC	0.443000														214			18		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091331	17091331	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17091331G>A	uc002nfb.3	-	13	1734	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	521						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTGTTAAACGAATCGGTTTC	0.592000														77			16		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1994036	1994036	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:1994036G>A	uc021qsx.1	-	10	1401	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.A309A	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	390	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TTCCTTGCTTGGCCTCTTGGA	0.617000														29			10		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9581067	9581067	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9581067C>T	uc002mlp.1	-	7	658	c.448_splice	c.e7+1	p.G150_splice	ZNF560_uc010dwr.1_Splice_Site_p.G44_splice	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	150	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GCCAGACTTACCTACTGAGGA	0.438000														127			27		0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92905734	92905734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:92905734C>T	uc001yak.3	+	3	397	c.374C>T	c.(373-375)tCt>tTt	p.S125F	SLC24A4_uc001yai.3_Missense_Mutation_p.S61F|SLC24A4_uc010twm.2_Missense_Mutation_p.S125F|SLC24A4_uc010auj.3_Missense_Mutation_p.S16F	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	125						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TTTGTTCCGTCTCTAGAGAAG	0.527000														133			31		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161010697	161010697	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:161010697C>T	uc003qtl.3	-	24	3955	c.3835G>A	c.(3835-3837)Gga>Aga	p.G1279R		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3787	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.G1279G(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TAACTCTGTCCATCACCATGG	0.473000														57			25		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170030620	170030620	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170030620G>A	uc002ues.3	-	55	11036	c.10823C>T	c.(10822-10824)cCa>cTa	p.P3608L		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3608	LDL-receptor class A 28.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCAGGATTCTGGGATGCAACG	0.517000														43			20		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440176	40440176	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:40440176C>T	uc003gvc.2	-	3	1445	c.735G>A	c.(733-735)gtG>gtA	p.V245V	RBM47_uc003gvd.2_Silent_p.V245V|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.V207V|RBM47_uc003gvg.1_Silent_p.V245V	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	245						nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGAGGATCTTCACGGTCTCCA	0.617000														104			43		0	0	1	0	0
IFI27	3429	broad.mit.edu	37	14	94578046	94578046	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94578046C>T	uc021sba.1	+	1	141	c.18C>T	c.(16-18)ctC>ctT	p.L6L	IFI27_uc001ycm.1_Non-coding_Transcript|IFI27_uc001ycn.1_Intron	NM_001130080	NP_001123552	P40305	IFI27_HUMAN	Homo sapiens interferon, alpha-inducible protein 27 (IFI27), transcript variant 1, mRNA.	6					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		CCTCTGCTCTCACCTCATCAG	0.597000														74			11		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110464387	110464387	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110464387G>A	uc003yne.3	+	41	6489	c.6385G>A	c.(6385-6387)Gaa>Aaa	p.E2129K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2129	IPT/TIG 14.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			CACCATAGCTGAAGCCAAATG	0.398000										HNSCC(38;0.096)				28			20		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364370	22364370	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22364370G>A	uc002nqs.1	-	2	467	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	50					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)				AAACTCTTGGGAAAAATGAGA	0.274000														23			13		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92523184	92523184	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92523184G>A	uc001pdj.4	+	6	4428	c.4411G>A	c.(4411-4413)Gag>Aag	p.E1471K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1471	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACAATTTCCGAGGATGTGCT	0.423000										TCGA Ovarian(4;0.039)				99			21		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33560122	33560122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:33560122C>T	uc001rll.1	-	2	976	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	SYT10_uc009zju.1_Missense_Mutation_p.E37K	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	227						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTGACATCTTCGTTTTGGTTG	0.383000														48			18		0	0	1	0	0
BCL2L15	440603	broad.mit.edu	37	1	114424416	114424416	+	Silent	SNP	G	A	A	rs114942995	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:114424416G>A	uc001edw.3	-	2	625	c.453C>T	c.(451-453)ttC>ttT	p.F151F	LOC100287722_uc001edv.1_Intron|BCL2L15_uc001edx.3_Intron|BCL2L15_uc001edy.3_Intron|BCL2L15_uc001edz.1_Non-coding_Transcript	NM_001010922	NP_001010922	Q5TBC7	B2L15_HUMAN	Homo sapiens BCL2-like 15 (BCL2L15), mRNA.	151					apoptosis					breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCCCTGGATGAACTCCCGGA	0.493000														25			6		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43531170	43531170	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43531170G>A	uc001zrd.2	-	8	1198	c.1190C>T	c.(1189-1191)tCg>tTg	p.S397L	TGM5_uc001zrc.2_Missense_Mutation_p.S54L|TGM5_uc001zre.2_Missense_Mutation_p.S315L	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	397					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ATTCACCATCGAAAACACAAA	0.527000														55			14		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32818262	32818262	+	Silent	SNP	C	T	T	rs146000974	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:32818262C>T	uc001utx.3	+	46	7267	c.6771C>T	c.(6769-6771)gtC>gtT	p.V2257V	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACCTTTCTGTCGTTCCTGTCA	0.478000														114			34		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150443463	150443463	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:150443463C>T	uc009wlr.3	+	10	2240	c.2039C>T	c.(2038-2040)cCt>cTt	p.P680L	RPRD2_uc010pcc.1_Missense_Mutation_p.P654L|RPRD2_uc001eup.4_Missense_Mutation_p.P654L	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	680	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AAAGGTAATCCTGGTTTCAGT	0.507000														64			29		0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64026164	64026164	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64026164C>T	uc009ypi.3	+	10	1359	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	PLCB3_uc009ypg.2_Missense_Mutation_p.S411F|PLCB3_uc009yph.2_Missense_Mutation_p.S344F	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	411	PI-PLC X-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						GTCATCCTCTCCTTCGAGAAC	0.612000														53			32		0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47945211	47945211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47945211C>T	uc003gxu.3	-	6	784	c.643G>A	c.(643-645)Gat>Aat	p.D215N	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.D146N|CNGA1_uc003gxv.1_Missense_Mutation_p.D146N	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	146					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	p.D214N(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCtttcttatctttgcttttc	0.328000														37			12		0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421590	115421590	+	Silent	SNP	C	T	T	rs151231750	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:115421590C>T	uc011lwx.1	+	4	1651	c.1476C>T	c.(1474-1476)acC>acT	p.T492T	KIAA1958_uc004bgf.1_Silent_p.T464T	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	464										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TTTATGTCACCGTCAAGAAGA	0.542000														51			33		0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46497339	46497339	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46497339C>T	uc003cpq.3	-	3	687	c.446G>A	c.(445-447)gGg>gAg	p.G149E	LTF_uc003fzr.3_Missense_Mutation_p.G105E|LTF_uc010hjh.3_Missense_Mutation_p.G149E|LTF_uc003cpr.3_Missense_Mutation_p.G136E	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	149	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	ACGAAGTGTCCCTATAGGGAC	0.572000														37			21		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18330167	18330167	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18330167C>T	uc010xqc.2	-	7	1323	c.843G>A	c.(841-843)gaG>gaA	p.E281E	PDE4C_uc002nik.4_Silent_p.E281E|PDE4C_uc002nil.4_Silent_p.E281E|PDE4C_uc002nig.4_Silent_p.E51E|PDE4C_uc002nih.4_Silent_p.E51E|PDE4C_uc010ebk.3_Silent_p.E175E|PDE4C_uc002nii.4_Silent_p.E249E|PDE4C_uc002nif.4_Silent_p.E50E|PDE4C_uc010ebl.3_5'UTR	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	281					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GTGGGGCCTCCTCAGCGGTCA	0.652000														49			10		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47463708	47463708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:47463708G>A	uc003tnw.3	-	9	822	c.464C>T	c.(463-465)tCc>tTc	p.S155F	TNS3_uc010kyo.1_Missense_Mutation_p.S155F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	155	Phosphatase tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCGTTTTTGGGAAGGCTGCAT	0.433000														77			18		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73000453	73000453	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:73000453G>A	uc003pga.3	+	24	3703	c.3626G>A	c.(3625-3627)gGa>gAa	p.G1209E	RIMS1_uc011dyb.2_Intron|RIMS1_uc003pgc.3_Intron|RIMS1_uc010kaq.3_Intron|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Intron|RIMS1_uc011dyd.2_Intron|RIMS1_uc003pge.3_Intron|RIMS1_uc003pgf.3_Intron|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Intron|RIMS1_uc011dye.2_Intron|RIMS1_uc011dyf.2_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1209					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTCATTAGGGGAAAACATCCT	0.517000														23			4		0	0	1	0	0
NR4A1	3164	broad.mit.edu	37	12	52451238	52451238	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52451238C>T	uc001rzs.3	+	6	1783	c.1464C>T	c.(1462-1464)gcC>gcT	p.A488A	NR4A1_uc010sno.2_Silent_p.A501A|NR4A1_uc001rzt.3_Silent_p.A488A|NR4A1_uc009zmc.3_Missense_Mutation_p.P102L	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	488					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GTATCCTGGCCTTCTCAAGGT	0.612000														56			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452474	179452474	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179452474C>T	uc021vsy.1	-	254	56083	c.55858G>A	c.(55858-55860)Gca>Aca	p.A18620T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A12315T|TTN_uc021vta.1_Missense_Mutation_p.A12248T|TTN_uc021vtb.1_Missense_Mutation_p.A12123T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19547	Fibronectin type-III 34.						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)			GGGCATCCTGCTCTCACTATG	0.443000														36			12		0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30202214	30202214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:30202214G>A	uc003agr.3	-	11	1295	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L	ASCC2_uc011akr.2_Missense_Mutation_p.S308L|ASCC2_uc003ags.3_Non-coding_Transcript	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CAAGACTGATGAGGCCTGCTG	0.567000														60			26		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348124	140348124	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140348124C>T	uc003lii.3	+	0	2378	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.F591F	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	591					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)			CAGCAGCCTTCGAGATGGTGC	0.517000														33			19		0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55860969	55860969	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55860969C>T	uc010rix.2	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGTACTTTTTCCTGAGCAATT	0.383000														243			49		0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48580147	48580147	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:48580147G>A	uc002efp.3	-	5	2481	c.2244C>T	c.(2242-2244)ttC>ttT	p.F748F		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Homo sapiens NEDD4 binding protein 1 (N4BP1), mRNA.	748					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	PML body|nucleolus				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TGTCCCCCACGAACGTGTACT	0.517000														87			6		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50794294	50794294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50794294C>T	uc010enu.1	+	35	5163	c.5116C>T	c.(5116-5118)Cgc>Tgc	p.R1706C	MYH14_uc002prq.1_Missense_Mutation_p.R1673C|MYH14_uc002prr.1_Missense_Mutation_p.R1665C|MYH14_uc010ycb.2_Missense_Mutation_p.R16C|MYH14_uc002prs.1_Missense_Mutation_p.R16C	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1665					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GAAGCAGCTTCGCAAGATGCA	0.642000														13			11		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595640	140595640	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140595640G>A	uc003lja.1	+	0	2132	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	649	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACAATGGCGAGCCTCCGCG	0.726000														54			26		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122759247	122759247	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:122759247G>A	uc003vkm.3	-	12	1425	c.1400C>T	c.(1399-1401)tCa>tTa	p.S467L	SLC13A1_uc010lks.3_Missense_Mutation_p.S343L	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	467						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TGCTGGTAATGAACCCAGAGG	0.343000														58			16		0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12384283	12384283	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12384283G>A	uc010xmj.2	-	4	1136	c.931C>T	c.(931-933)Cct>Tct	p.P311S	ZNF44_uc002mtl.3_Intron|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Missense_Mutation_p.P263S	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA.	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CTGTAATCAGGGAAGGCTTTA	0.408000														169			59		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	121960374	121960374	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:121960374G>A	uc022akp.1	-	28	4158	c.3736C>T	c.(3736-3738)Cga>Tga	p.R1246*	CADPS2_uc003vkg.4_Nonsense_Mutation_p.R900*|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Nonsense_Mutation_p.R1205*|CADPS2_uc022akr.1_Nonsense_Mutation_p.R1246*	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	1246					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	p.R1243*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CCCTGCAATCGAAAGTCCCTG	0.398000														144			57		0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7949293	7949293	+	Missense_Mutation	SNP	C	T	T	rs148940548	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7949293C>T	uc010rbh.2	-	0	917	c.917G>A	c.(916-918)cGa>cAa	p.R306Q		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACTCGCCTTCGCCATAATTT	0.373000														100			45		0	0	1	0	0
CD27	939	broad.mit.edu	37	12	6554699	6554699	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6554699G>A	uc001qod.3	+	1	457	c.246G>A	c.(244-246)gaG>gaA	p.E82E	CD27-AS1_uc001qob.2_Intron|CD27-AS1_uc009zel.1_Intron	NM_001242	NP_001233	P26842	CD27_HUMAN	Homo sapiens CD27 molecule (CD27), mRNA.	82					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						CCCACTGTGAGAGCTGTCGGC	0.597000														41			6		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099865	50099865	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50099865C>T	uc002poo.4	+	3	2273	c.2273C>T	c.(2272-2274)gCc>gTc	p.A758V		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	466							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GAGCTGGGGGCCTTCTTGCAA	0.687000														19			9		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656881	40656881	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:40656881G>A	uc002rrx.3	-	0	564	c.540C>T	c.(538-540)ttC>ttT	p.F180F	SLC8A1_uc002rry.3_Silent_p.F180F|SLC8A1_uc002rsb.2_Silent_p.F180F|SLC8A1_uc002rrz.3_Silent_p.F180F|SLC8A1_uc002rsa.3_Silent_p.F180F|SLC8A1_uc002rsd.4_Silent_p.F180F|SLC8A1_uc010fan.1_Silent_p.F180F|SLC8A1_uc002rsc.1_Silent_p.F180F	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	180					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAATAATGATGAACATATTGA	0.463000														50			16		0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55652961	55652961	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55652961G>A	uc010rip.2	+	1	149	c.57G>A	c.(55-57)atG>atA	p.M19I	TRIM51_uc010riq.2_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	19						intracellular	zinc ion binding										CCATCTGCATGAACTACTTCC	0.502000														99			41		0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203690	5203690	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:5203690C>T	uc009xhz.2	-	3		c.502G>A								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TTTTGGCAATCCTATGCACCT	0.418000														104			29		0	0	1	0	0
BANF2	140836	broad.mit.edu	37	20	17705763	17705763	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:17705763C>T	uc010zrs.1	+	1	128	c.114C>T	c.(112-114)ctC>ctT	p.L38L	BANF2_uc002wqa.2_Silent_p.L31L|BANF2_uc002wpz.2_Silent_p.L31L	NM_001159495	NP_848572	Q9H503	BAFL_HUMAN	Homo sapiens barrier to autointegration factor 2 (BANF2), transcript variant 3, mRNA.	31						cytoplasm|nucleus	DNA binding			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						GCCATGAGCTCGCGATCAATT	0.493000														88			19		0	0	1	0	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086747	46086747	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46086747G>A	uc002zfu.3	-	0	98	c.57C>T	c.(55-57)ccC>ccT	p.P19P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	Homo sapiens keratin associated protein 12-2 (KRTAP12-2), mRNA.	19	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						CTGGCTGGCAGGGGCTGGGCG	0.657000														25			8		0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42747230	42747230	+	Silent	SNP	C	T	T	rs138017620		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42747230C>T	uc002xli.1	-	2	2076	c.1203G>A	c.(1201-1203)gcG>gcA	p.A401A		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	401	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGCCTGTTCCGCTGCCTCAG	0.617000														149			33		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424120	56424120	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56424120G>A	uc010ygg.2	-	4	1088	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	355	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTAGCCAGGGGAACCAATTCT	0.473000														84			35		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120876350	120876350	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:120876350G>A	uc003eec.4	+	9	894	c.754_splice	c.e9-1	p.A252_splice	STXBP5L_uc011bji.2_Splice_Site_p.A252_splice	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	252					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TATTTTATTAGGCTATTCATT	0.328000														49			15		0	0	1	0	0
CLDN19	149461	broad.mit.edu	37	1	43203960	43203960	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:43203960G>A	uc001cht.1	-	2	604	c.413C>T	c.(412-414)tCg>tTg	p.S138L	CLDN19_uc001chu.2_Missense_Mutation_p.S138L|CLDN19_uc010ojv.1_Intron	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA.	138					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCATACCACGAGACAGCAGT	0.612000														71			15		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458025	120458025	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:120458025G>A	uc001eik.3	-	33	7617	c.7320C>T	c.(7318-7320)acC>acT	p.T2440T		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2440					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGGGCTGGTGGTCACATCTG	0.582000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					110			22		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784321	9784321	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:9784321G>A	uc003gmb.4	+	0	1064	c.668G>A	c.(667-669)cGa>cAa	p.R223Q		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	223					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.R223Q(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AGCCTGAATCGAACCTACGCC	0.582000														91			31		0	0	1	0	0
FAM86FP	653113	broad.mit.edu	37	12	8386984	8386984	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8386984G>A	uc010sgk.2	-	3		c.472C>T								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		GCAGGACCCCGACCAGCGACA	0.587000														65			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057713	9057713	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9057713C>T	uc002mkp.3	-	2	29937	c.29733G>A	c.(29731-29733)atG>atA	p.M9911I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9913	Ser-rich.|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						TGATTTCTGTCATGGAGACTT	0.468000														167			12		0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29793279	29793279	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29793279G>A	uc002kxj.4	+	10	1383	c.1336G>A	c.(1336-1338)Gga>Aga	p.G446R		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	446	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CAGCCCAAATGGAACTCTGTA	0.408000														26			13		0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65541092	65541092	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:65541092G>A	uc002sdr.4	-	5	1335	c.800C>T	c.(799-801)cCc>cTc	p.P267L	SPRED2_uc010fcw.3_Missense_Mutation_p.P264L	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	267					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GTCCACGTAGGGGTAGTTGTA	0.682000														84			34		0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120438714	120438714	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:120438714C>T	uc021vnk.1	+	0	285	c.285C>T	c.(283-285)ttC>ttT	p.F95F	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Silent_p.F95F|TMEM177_uc002tmc.1_Silent_p.F95F|TMEM177_uc002tmd.2_Silent_p.F95F|TMEM177_uc010flh.3_Intron	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	95						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GTGCAGGCTTCCCAAGACTCC	0.547000														235			111		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38830179	38830179	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38830179C>T	uc021yzh.1	+	43	6364	c.6255C>T	c.(6253-6255)gtC>gtT	p.V2085V	DNAH8_uc003ooe.2_Silent_p.V1868V	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AATATGTGGTCGTGTTCAATT	0.423000														129			43		0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47283522	47283522	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:47283522C>T	uc009ylm.3	+	6	1191	c.941C>T	c.(940-942)aCc>aTc	p.T314I	NR1H3_uc010rhk.2_Missense_Mutation_p.T320I|NR1H3_uc009yll.2_Missense_Mutation_p.T320I|NR1H3_uc001nek.3_Missense_Mutation_p.T269I|NR1H3_uc001nen.4_Missense_Mutation_p.T254I|NR1H3_uc001nem.3_Missense_Mutation_p.T314I	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA.	314	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GAGAGTATCACCTTCCTCAAG	0.507000														92			66		0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119958174	119958174	+	Silent	SNP	G	A	A	rs111333222	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:119958174G>A	uc001ehs.3	+	0	905	c.132G>A	c.(130-132)gaG>gaA	p.E44E	HSD3B2_uc021ost.1_Silent_p.E44E|HSD3B2_uc001eht.3_Silent_p.E44E|HSD3B2_uc001ehu.3_Silent_p.E44E	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	44					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	AATTGAGAGAGGAATTTTCTA	0.498000														102			41		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70926127	70926127	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70926127G>A	uc021rvq.1	+	0	1911	c.1911G>A	c.(1909-1911)gaG>gaA	p.E637E	ADAM21_uc001xmd.3_Silent_p.E637E	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	637	EGF-like.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCCTTCCTGAGACCTGCAATA	0.507000														65			26		0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676126	123676126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123676126C>T	uc010rzz.2	-	0	932	c.932G>A	c.(931-933)aGg>aAg	p.R311K		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TCAAGTTTTCCTTTGTATCAA	0.378000														129			10		0	0	1	0	0
FKBP9L	360132	broad.mit.edu	37	7	55755518	55755519	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55755518_55755519CC>TT	uc010kzl.3	-	3	474_475	c.374_375GG>AA	c.(373-375)cgg>cAA	p.R125Q	FKBP9L_uc010kzk.3_Missense_Mutation_p.R14Q|FKBP9L_uc003tqt.3_Missense_Mutation_p.R14Q|FKBP9L_uc011kcs.2_Missense_Mutation_p.R14Q					Homo sapiens FK506 binding protein 9-like (FKBP9L), transcript variant 4, non-coding RNA.											endometrium(1)|kidney(1)|lung(3)	5						TGATCACTGTCCGTTTCTCGCC	0.515000														59			17		0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56511255	56511255	+	Silent	SNP	G	A	A	rs61735257	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56511255G>A	uc010rjo.2	-	0	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCACGGAGGTGAAAGCCTGAC	0.413000														98			35		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276853	15276853	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15276853C>T	uc002nan.3	-	29	5488	c.5412G>A	c.(5410-5412)gaG>gaA	p.E1804E		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1804					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TTGGCATTGGCTCCAGAGCCC	0.577000														48			22		0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210414947	210414947	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:210414947C>T	uc001hhy.3	+	3	515	c.336C>T	c.(334-336)tcC>tcT	p.S112S	SERTAD4_uc009xcw.3_Silent_p.S112S	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	112	SERTA.						protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TTTATATGTCCTTAGAAAAGC	0.338000														113			23		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49697935	49697935	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49697935C>T	uc003cxe.4	+	5	8771	c.8657C>T	c.(8656-8658)cCc>cTc	p.P2886L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2886					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCGTTGCCACCCAACAGCCTG	0.657000														141			40		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	176580	176580	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:176580G>A	uc001qhw.2	+	0	532	c.532G>A	c.(532-534)Ggc>Agc	p.G178S		NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	178					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCTCGGCAAGGGCGTCCTGAG	0.647000														31			5		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30966408	30966408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:30966408G>A	uc021vfn.1	-	11	1318	c.1286C>T	c.(1285-1287)tCg>tTg	p.S429L	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.S425L|CAPN13_uc002rno.3_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	429					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GTTTCTGAACGAGGAAAAAAA	0.473000														88			10		0	0	1	0	0
KHDC1L	100129128	broad.mit.edu	37	6	73935101	73935101	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:73935101C>T	uc003pgm.4	-	0	75	c.31G>A	c.(31-33)Gag>Aag	p.E11K	KHDC1_uc011dyl.1_Non-coding_Transcript	NM_001126063	NP_001119535	Q5JSQ8	KHDCL_HUMAN	Homo sapiens KH homology domain containing 1-like (KHDC1L), mRNA.	11										breast(1)|endometrium(1)|kidney(1)|lung(3)|skin(1)	7						CACCACGGCTCCTTGCTGAGA	0.537000														48			8		0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62407280	62407280	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62407280C>T	uc002ygv.2	-	2	1174	c.973G>A	c.(973-975)Gac>Aac	p.D325N	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCTCGGCTGTCGGAGCTGCTG	0.637000														54			29		0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61778959	61778959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:61778959C>T	uc011cqr.2	+	9	1110	c.980C>T	c.(979-981)tCa>tTa	p.S327L	IPO11_uc003jtc.3_Missense_Mutation_p.S287L	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	287						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CATCCTTTTTCATTTACTCCT	0.308000														48			33		0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135554457	135554457	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135554457C>T	uc010mzv.3	+	1	1709	c.1451C>T	c.(1450-1452)cCc>cTc	p.P484L	GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	484					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GCAGTGAGCCCCTGCGGTGCA	0.473000														77			7		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74092095	74092095	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:74092095C>T	uc021ulp.1	-	3	2293	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTAGAAGTCTCTCTGCTACTG	0.522000														51			24		0	0	1	0	0
CRH	1392	broad.mit.edu	37	8	67089149	67089149	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:67089149C>T	uc022avj.1	-	0	564	c.564G>A	c.(562-564)agG>agA	p.R188R	CRH_uc003xvy.2_Silent_p.R188R	NM_000756	NP_000747	P06850	CRF_HUMAN	Homo sapiens corticotropin releasing hormone (CRH), mRNA.	188					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	CCATGAGTTTCCTGTTGCTGT	0.453000											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			23		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23814665	23814665	+	Missense_Mutation	SNP	G	A	A	rs149856244		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:23814665G>A	uc003gqs.3	-	8	1997	c.1877C>T	c.(1876-1878)tCg>tTg	p.S626L	PPARGC1A_uc003gqt.3_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	626	Arg/Ser-rich.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding	p.S626L(2)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GCTGTAGGGCGATCTTGAACG	0.493000														119			64		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065373	35065373	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35065373C>T	uc003jjm.3	-	9	2246	c.1687G>A	c.(1687-1689)Gat>Aat	p.D563N	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.D462N|PRLR_uc021xxl.1_3'UTR	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	563					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCATGTGGATCTGGCACCAAC	0.517000														55			12		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587019	15587019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15587019G>A	uc002nbg.3	-	1	595	c.462C>T	c.(460-462)acC>acT	p.T154T	PGLYRP2_uc002nbf.4_Silent_p.T154T	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	154					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CATCTGGAAAGGTATCTCCAG	0.587000														82			17		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130287237	130287237	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130287237G>A	uc010htl.3	+	4	2221	c.2190G>A	c.(2188-2190)acG>acA	p.T730T		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	730	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCTCATCACGGATGGTGAAG	0.517000														83			14		0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573977	64573977	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:64573977G>A	uc010qio.2	-	2	480	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	EGR2_uc010qim.2_Missense_Mutation_p.P141S|EGR2_uc010qin.2_Missense_Mutation_p.P91S|EGR2_uc001jmi.3_Missense_Mutation_p.P141S|EGR2_uc009xph.3_Missense_Mutation_p.P141S	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	141					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.T153A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGTGGGTTGGGGGAGGCAGAG	0.597000														61			15		0	0	1	0	0
SLC23A1	9963	broad.mit.edu	37	5	138716319	138716319	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:138716319C>T	uc003leg.3	-	4	497	c.400G>A	c.(400-402)Gag>Aag	p.E134K	SLC23A1_uc003leh.3_Missense_Mutation_p.E134K	NM_152685	NP_689898	Q9UHI7	S23A1_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 1 (SLC23A1), transcript variant 2, mRNA.	134					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	L-ascorbate:sodium symporter activity|dehydroascorbic acid transporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CCGTAGATCTCCTCTGGGGGT	0.567000														45			25		0	0	1	0	0
GJB2	2706	broad.mit.edu	37	13	20763615	20763615	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:20763615G>A	uc001umy.3	-	1	321	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F	GJB2_uc021rha.1_Missense_Mutation_p.L36F	NM_004004	NP_003995	P29033	CXB2_HUMAN	Homo sapiens gap junction protein, beta 2, 26kDa (GJB2), mRNA.	36					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	ER-Golgi intermediate compartment|connexon complex|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		GCCACAACGAGGATCATAATG	0.542000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			30		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26619945	26619945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:26619945G>A	uc001mqt.4	+	14	1626	c.1481G>A	c.(1480-1482)aGg>aAg	p.R494K	ANO3_uc010rdr.2_Missense_Mutation_p.R478K|ANO3_uc010rds.2_Missense_Mutation_p.R333K|ANO3_uc010rdt.2_Missense_Mutation_p.R348K	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	494						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AAAAGGAGAAGGAGTATACTG	0.353000														119			10		0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78778131	78778131	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:78778131T>C	uc002bdr.2	+	12	1820	c.1658T>C	c.(1657-1659)gTt>gCt	p.V553A	IREB2_uc010unb.1_Missense_Mutation_p.V303A	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	553							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AGTGGGATGGTTACACATTAC	0.403000														151			149		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19460865	19460865	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19460865G>A	uc002dgc.4	+	5	1708	c.959_splice	c.e5-1	p.V320_splice	TMC5_uc010vaq.2_Splice_Site_p.V320_splice|TMC5_uc002dgb.4_Splice_Site_p.V320_splice|TMC5_uc010var.2_Splice_Site_p.V320_splice	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	320						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						TCCCTCCAGTGAACCCTGCTT	0.463000														122			31		0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70605012	70605012	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:70605012C>T	uc002ezf.3	+	24	3634	c.3423C>T	c.(3421-3423)ttC>ttT	p.F1141F		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	1141					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				ATGACTTCTTCCAGCATGTGG	0.498000														136			51		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7675417	7675417	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7675417C>T	uc002mgu.4	+	7	998	c.897C>T	c.(895-897)ctC>ctT	p.L299L	CAMSAP3_uc002mgv.4_Silent_p.L272L	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	272	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						ACCTCCAGCTCGTGCAGGATT	0.612000														158			53		0	0	1	0	0
NEK3	4752	broad.mit.edu	37	13	52718862	52718862	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:52718862G>A	uc001vgh.3	-	7	2062	c.831C>T	c.(829-831)atC>atT	p.I277I	NEK3_uc001vgi.3_Silent_p.I256I|NEK3_uc010tgx.2_Non-coding_Transcript|NEK3_uc010tgy.2_Silent_p.I256I	NM_001146099	NP_001139571	P51956	NEK3_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 3 (NEK3), transcript variant 3, mRNA.	256	Interaction with VAV2.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		GCCGAGCTACGATGCCTCGAG	0.463000														32			9		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699232	43699232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43699232C>T	uc002ovy.3	-	3	1005	c.903G>A	c.(901-903)acG>acA	p.T301T	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Silent_p.T208T	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	301	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region		p.T301T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TTTCATTTCTCGTGACATTGG	0.478000														301			35		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55012616	55012616	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:55012616G>A	uc002xxp.2	+	2	658	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	CASS4_uc002xxq.4_Missense_Mutation_p.E145K|CASS4_uc010zze.1_Intron|CASS4_uc002xxr.2_Missense_Mutation_p.E145K|CASS4_uc010gio.2_Missense_Mutation_p.E145K	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	145					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AATCATCTGTGAAAAGACTCT	0.537000														85			59		0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31712336	31712336	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:31712336C>T	uc021wuu.1	-	8	2537	c.1866G>A	c.(1864-1866)gcG>gcA	p.A622A	OSBPL10_uc003ceu.1_Silent_p.A379A|OSBPL10_uc011axf.2_Silent_p.A558A	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	622					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ATATCACTGTCGCTGAGTACC	0.547000														98			44		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75065531	75065531	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75065531C>T	uc001dgg.3	-	10	1793	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.G319E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	525	Glu-rich.							p.N524S(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						CTGCGGTATTCCATTCATTTG	0.388000														167			61		0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	517561	517561	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:517561C>T	uc003gak.4	+	8	2064	c.1928C>T	c.(1927-1929)tCc>tTc	p.S643F	PIGG_uc003gaj.4_Missense_Mutation_p.S635F|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Missense_Mutation_p.S510F|PIGG_uc003gal.4_Missense_Mutation_p.S554F	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	643					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CCCTCTACCTCCGAAGTGCTC	0.637000														48			15		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26822398	26822398	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:26822398G>A	uc001iss.3	+	8	1165	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	APBB1IP_uc009xks.1_Missense_Mutation_p.E282K	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	282					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGGAAAAAAAGAAAGCAAGGA	0.343000														47			9		0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148796219	148796219	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:148796219G>A	uc004fdq.3	+	2	330	c.175G>A	c.(175-177)Gat>Aat	p.D59N	MAGEA11_uc004fdr.3_Missense_Mutation_p.D30N	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	59						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GTGGTCCCAGGATCTGCCAAG	0.532000														3			16		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940609	144940609	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144940609G>A	uc003zaa.1	-	0	6826	c.6813C>T	c.(6811-6813)ttC>ttT	p.F2271F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2271						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.G2270S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTCGATGACGAAGCCGGTGG	0.716000														48			4		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166850864	166850864	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166850864C>T	uc002udo.4	-	26	4871	c.4644G>A	c.(4642-4644)atG>atA	p.M1548I	SCN1A_uc010fpk.3_Missense_Mutation_p.M1520I|SCN1A_uc021vsb.1_Missense_Mutation_p.M1537I	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1548						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGATGAGAATCATGATGCTTA	0.368000														41			15		0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116779058	116779058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116779058C>T	uc004bid.3	+	9	937	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	ZNF618_uc004bib.1_Missense_Mutation_p.P248S|ZNF618_uc004bic.3_Missense_Mutation_p.P268S|ZNF618_uc011lxi.2_Missense_Mutation_p.P248S|ZNF618_uc011lxj.2_Missense_Mutation_p.P248S	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CTTACACGCCCCCATCAGTGA	0.577000														14			8		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21217065	21217065	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21217065G>A	uc003zor.1	-	0	246	c.240C>T	c.(238-240)ttC>ttT	p.F80F	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	80					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TCATCTCATGGAAGGCAGAGA	0.473000														119			61		0	0	1	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90673158	90673158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:90673158C>T	uc001kfk.3	+	5	1144	c.721C>T	c.(721-723)Cac>Tac	p.H241Y	STAMBPL1_uc010qmx.1_Missense_Mutation_p.H241Y|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Missense_Mutation_p.H241Y|STAMBPL1_uc001kfn.3_Missense_Mutation_p.H75Y	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.	241							metal ion binding|metallopeptidase activity|protein binding	p.S240N(1)		breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TTATGCTAGCCACTCTCCTCC	0.463000														89			46		0	0	1	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20474748	20474748	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:20474748C>T	uc009vpp.1	+	4	588	c.490C>T	c.(490-492)Ctc>Ttc	p.L164F		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA.	121					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GGTTCTGTGCCTCATGAACCA	0.557000														116			14		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861758	52861758	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:52861758C>G	uc003gzi.3	-	3	1437	c.1430G>C	c.(1429-1431)aGg>aCg	p.R477T		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	477						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTTTCTGCTCCTTCCCAGAGT	0.542000														89			27		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158291210	158291210	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:158291210C>T	uc002tzj.1	-	2	296	c.224_splice	c.e2+1	p.R75_splice	CYTIP_uc010zcl.1_Splice_Site	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	75					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						ATCTCTTTACCTTTGAGACCA	0.378000														28			8		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17104380	17104380	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17104380G>A	uc002nfb.3	-	11	1285	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	371						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCTGCCATCGGGGTAGGATAG	0.532000														55			15		0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15132675	15132675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15132675C>T	uc002nae.2	+	5	1294	c.1195C>T	c.(1195-1197)Cgc>Tgc	p.R399C		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	399					microtubule cytoskeleton organization	microtubule		p.R399H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						ACCCCTGGTTCGCATGTACCA	0.637000														58			33		0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505396	159505396	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159505396G>A	uc010piw.2	-	0	402	c.402C>T	c.(400-402)gtC>gtT	p.V134V		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TGCTCATGATGACAGTGTATC	0.483000														83			38		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179580269	179580269	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179580269G>A	uc021vsy.1	-	85	22365	c.22140C>T	c.(22138-22140)gcC>gcT	p.A7380A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.A4041A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8307	Ig-like 55.						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)			CTGCATTGTGGGCCTCACAGG	0.478000														78			5		0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41211272	41211272	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41211272G>A	uc002oor.2	-	5	750	c.448C>T	c.(448-450)Cga>Tga	p.R150*	ADCK4_uc002ooq.2_Intron|ADCK4_uc002oos.2_Nonsense_Mutation_p.R150*	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	150						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCGGCCCCTCGAACTGTACAT	0.607000														52			27		0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122774731	122774731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:122774731C>T	uc001pym.3	+	2	740	c.443C>T	c.(442-444)cCg>cTg	p.P148L	C11orf63_uc001pyl.1_Missense_Mutation_p.P148L	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	148								p.P148S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAAGCGTTGCCGGAGTCCACG	0.527000														143			49		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196642613	196642613	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196642613G>A	uc002utj.4	-	58	11076	c.10975C>T	c.(10975-10977)Cta>Tta	p.L3659L	DNAH7_uc002uti.4_Silent_p.L142L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3659					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATTTGTTTAGAATGCTGCGC	0.473000														60			23		0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108339003	108339003	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:108339003G>A	uc001kyl.3	-	25	3560	c.3378C>T	c.(3376-3378)atC>atT	p.I1126I	SORCS1_uc021pxw.1_Silent_p.I1126I|SORCS1_uc009xxs.3_Intron|SORCS1_uc001kym.3_Intron|SORCS1_uc001kyn.2_Silent_p.I1126I|SORCS1_uc001kyo.3_3'UTR	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	1126						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TAATCCCCGGGATCTTCCTAA	0.468000														168			41		0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25004683	25004683	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:25004683G>A	uc001mqs.3	+	8	883	c.609G>A	c.(607-609)atG>atA	p.M203I	LUZP2_uc009yif.3_Missense_Mutation_p.M117I|LUZP2_uc009yig.3_Missense_Mutation_p.M161I	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	203						extracellular region		p.Q202*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGTCACAGATGAAAGCAATGA	0.408000														138			60		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519328	113519328	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:113519328C>T	uc010ljy.1	-	3	1850	c.1819G>A	c.(1819-1821)Ggc>Agc	p.G607S		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	607					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAAGCGCTGCCTTCACTAGTC	0.423000														165			56		0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1038576	1038576	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:1038576C>T	uc001ift.3	+	1	267	c.196C>T	c.(196-198)Cta>Tta	p.L66L	GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc010qad.2_5'UTR|GTPBP4_uc010qae.2_Silent_p.L19L	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	66					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TTCACAAATTCTAACAGATTT	0.348000														29			11		0	0	1	0	0
MAOA	4128	broad.mit.edu	37	X	43571145	43571145	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:43571145C>T	uc004dfy.3	+	3	514	c.333C>T	c.(331-333)gcC>gcT	p.A111A	MAOA_uc011mkw.2_5'UTR	NM_000240	NP_000231	P21397	AOFA_HUMAN	Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA.	111					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	TTCGGGGCGCCTTTCCACCAG	0.363000														43			38		0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211041	59211041	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59211041C>T	uc001nnx.1	+	0	400	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CAGCCCCCTTCTCTACCCCAC	0.547000														278			72		0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	110065788	110065788	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:110065788C>T	uc010ywt.1	+	7	1991	c.1991C>T	c.(1990-1992)cCg>cTg	p.P664L		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	664							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TGCCCACGGCCGGCCATCCCC	0.677000														17			5		0	0	1	0	0
TCP10	6953	broad.mit.edu	37	6	167796359	167796359	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:167796359C>T	uc003qvv.1	-	1	215	c.3G>A	c.(1-3)atG>atA	p.M1I	TCP10_uc003qvu.3_Missense_Mutation_p.M1I|TCP10_uc003qvw.3_Intron	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	28						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GTGTCTTCTCCATGGCAGCCC	0.662000														10			5		0	0	1	0	0
STYXL1	51657	broad.mit.edu	37	7	75634657	75634657	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:75634657G>A	uc003uel.3	-	5	862	c.519C>T	c.(517-519)ttC>ttT	p.F173F	STYXL1_uc003uef.3_5'UTR|STYXL1_uc011kgg.2_Silent_p.F25F|STYXL1_uc003ueh.3_Silent_p.F35F|STYXL1_uc011kgf.2_Silent_p.F35F|STYXL1_uc003uek.4_Silent_p.F77F|STYXL1_uc003uem.3_Silent_p.F173F|STYXL1_uc010ldg.2_Non-coding_Transcript|STYXL1_uc010ldh.2_Silent_p.F173F|STYXL1_uc003uen.1_Silent_p.F173F	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	Homo sapiens serine/threonine/tyrosine interacting-like 1 (STYXL1), mRNA.	173	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						AGGCTTGACTGAAATTGCCAA	0.468000														87			33		0	0	1	0	0
NPPA	4878	broad.mit.edu	37	1	11907192	11907193	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11907192_11907193CC>TT	uc001ati.3	-	1	526_527	c.427_428GG>AA	c.(427-429)gga>AAa	p.G143K	CLCN6_uc010oba.1_Intron|CLCN6_uc010oav.1_Intron|CLCN6_uc010oay.1_Intron|CLCN6_uc010oax.1_Intron|CLCN6_uc010oaw.1_Intron|CLCN6_uc010oaz.1_Intron	NM_006172	NP_006163	P01160	ANF_HUMAN	Homo sapiens natriuretic peptide A (NPPA), mRNA.	143					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGCCCAGTCCGCTCTGGGCT	0.594000														301			128		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119770494	119770494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:119770494C>T	uc004bjt.2	-	5	1416	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N	ASTN2_uc022bml.1_Missense_Mutation_p.D139N|ASTN2_uc022bmm.1_Missense_Mutation_p.D139N	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	490						integral to membrane		p.D439N(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTTAACCAGTCGGAGATGTCC	0.507000														50			15		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35667306	35667306	+	Missense_Mutation	SNP	G	A	A	rs144477950		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35667306G>A	uc003jjo.3	+	8	1411	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	SPEF2_uc003jjn.1_Missense_Mutation_p.D434N|SPEF2_uc003jjq.4_Missense_Mutation_p.D434N	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	434					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAAATTTTGGATCAAATAGT	0.328000														38			17		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79579761	79579761	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:79579761G>A	uc001jzk.3	-	15	3488	c.3418C>T	c.(3418-3420)Ccg>Tcg	p.P1140S	DLG5_uc001jzi.3_5'UTR|DLG5_uc001jzj.3_Missense_Mutation_p.P555S|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.P744S	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1140					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	p.P1140Q(1)		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)			CCACTGGCCGGGACACACTTC	0.607000														76			19		0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114196635	114196635	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:114196635C>T	uc001edk.3	+	14	2805	c.2624C>T	c.(2623-2625)cCa>cTa	p.P875L	MAGI3_uc001edh.3_Missense_Mutation_p.P900L|MAGI3_uc001edi.4_Missense_Mutation_p.P875L|MAGI3_uc010owm.2_Missense_Mutation_p.P900L|MAGI3_uc001edj.3_Missense_Mutation_p.P596L	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	900					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAACCACCTCCAGGAGGTAAG	0.448000														223			59		0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6232963	6232963	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6232963G>A	uc001mck.4	-	11	3093	c.2734C>T	c.(2734-2736)Cct>Tct	p.P912S	FAM160A2_uc001mcl.4_Missense_Mutation_p.P898S	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	898					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAAGCCCCAGGGGAGCCCCCA	0.622000														99			6		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69699681	69699681	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:69699681G>A	uc010lyz.3	+	11	1750	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	C8orf34_uc003xyb.3_Missense_Mutation_p.E376K	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	401					signal transduction		cAMP-dependent protein kinase regulator activity	p.E376K(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TTTGCAGGATGAATCCTTAAA	0.358000														25			6		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116429583	116429583	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:116429583G>A	uc001tvw.3	-	16	3231	c.3176C>T	c.(3175-3177)aCt>aTt	p.T1059I		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1059					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACCTCTGGGAGTTCTTGGGGT	0.612000														75			24		0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89036161	89036161	+	Silent	SNP	G	A	A	rs144639395		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:89036161G>A	uc003hrg.3	-	7	1384	c.891C>T	c.(889-891)atC>atT	p.I297I	ABCG2_uc003hrh.3_Silent_p.I297I|ABCG2_uc003hrf.3_Silent_p.I167I	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	297					cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CTCCATTAATGATGTCCAAGA	0.383000														63			13		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62995958	62995958	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62995958T>G	uc001nwr.1	-	1	481	c.481A>C	c.(481-483)Aac>Cac	p.N161H	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.N161H	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	161					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CCATATAGGTTGCCTCCCACC	0.408000														66			25		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117251691	117251691	+	Missense_Mutation	SNP	C	T	T	rs78194216		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:117251691C>T	uc003vjd.3	+	19	3328	c.3196C>T	c.(3196-3198)Cgt>Tgt	p.R1066C	CFTR_uc011knq.2_Missense_Mutation_p.R472C	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1066	ABC transmembrane type-1 2.		R -> C (in CF).|R -> H (in CF).|R -> L (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ATGGACACTTCGTGCCTTCGG	0.413000									Cystic Fibrosis					34			15		0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27374045	27374046	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:27374045_27374046CC>TT	uc002don.3	+	10	1614_1615	c.1372_1373CC>TT	c.(1372-1374)ccc>TTc	p.P458F	IL4R_uc002dop.4_Missense_Mutation_p.P443F|IL4R_uc010bxy.3_Missense_Mutation_p.P458F|IL4R_uc002doo.3_Missense_Mutation_p.P298F	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	458	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGAGGCACCTCCCTGGGGCAAG	0.624000														69			17		0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58196037	58196037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:58196037C>T	uc001sqj.2	-	15	2086	c.2057G>A	c.(2056-2058)cGa>cAa	p.R686Q	TSFM_uc021qzq.1_Intron|AVIL_uc009zqe.2_Missense_Mutation_p.R679Q|AVIL_uc001sqk.1_Missense_Mutation_p.R264Q	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	686	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GTCGGGATCTCGGCCGCTGGG	0.557000														26			19		0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53740812	53740812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53740812G>A	uc002qbg.1	-	4	1319	c.1168C>T	c.(1168-1170)Ctt>Ttt	p.L390F	ZNF677_uc002qbf.1_Missense_Mutation_p.L390F	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TGTTGGGTAAGGCTTGAACGT	0.413000														90			11		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766216	77766216	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:77766216G>A	uc003yau.2	+	9	7446	c.7059G>A	c.(7057-7059)atG>atA	p.M2353I	ZFHX4_uc003yaw.1_Missense_Mutation_p.M2308I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2308	Pro-rich.					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)			AAGACTCCATGGATGCCACTG	0.473000										HNSCC(33;0.089)				118			42		0	0	1	0	0
GTPBP3	84705	broad.mit.edu	37	19	17449365	17449365	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17449365C>T	uc002ngg.4	+	3	501	c.406C>T	c.(406-408)Cga>Tga	p.R136*	GTPBP3_uc010xpo.2_Nonsense_Mutation_p.R158*|GTPBP3_uc010ear.2_Non-coding_Transcript|GTPBP3_uc010eas.3_Nonsense_Mutation_p.R136*|GTPBP3_uc002ngh.4_Nonsense_Mutation_p.R136*	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	136					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GCCAGGGCTTCGACCGGCGGA	0.652000														55			14		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73748388	73748388	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73748388G>A	uc002jpg.3	+	30	4114	c.3927G>A	c.(3925-3927)gaG>gaA	p.E1309E	ITGB4_uc002jph.3_Silent_p.E1309E|ITGB4_uc002jpi.4_Silent_p.E1309E|ITGB4_uc002jpj.3_Silent_p.E1309E	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1309	Fibronectin type-III 2.				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)			GGGGGCCTGAGCGGGAGGCCA	0.672000														90			30		0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21926377	21926377	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21926377C>T	uc001rff.3	-	1	512	c.174G>A	c.(172-174)caG>caA	p.Q58Q		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	58						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)	TGAAGATGTCCTGTAGAAAGC	0.582000											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			33		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37319368	37319369	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37319368_37319369CC>TT	uc003aqa.4	+	2	376_377	c.159_160CC>TT	c.(157-162)gcccag>gcTTag	p.Q54*	CSF2RB_uc003aqc.4_Nonsense_Mutation_p.Q54*	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	54					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCAGGATGCCCAGCGGCTCGT	0.634000														41			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066520	9066520	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9066520G>A	uc002mkp.3	-	2	21130	c.20926C>T	c.(20926-20928)Ccc>Tcc	p.P6976S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6978	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						GTACCAGTGGGGACTTCTGAA	0.483000														112			59		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55263177	55263177	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55263177C>T	uc002qgx.3	+	5	829	c.792C>T	c.(790-792)ctC>ctT	p.L264L	KIR2DL1_uc010erw.1_Silent_p.L264L|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron	NM_015868	NP_056952	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 (KIR2DL3), mRNA.	263					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		tcttctttctccttcATCGCT	0.522000														46			49		0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225609926	225609926	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:225609926G>A	uc001hoy.3	-	2	393	c.219C>T	c.(217-219)tcC>tcT	p.S73S	LBR_uc001hoz.3_Silent_p.S73S	NM_002296	NP_919424	Q14739	LBR_HUMAN	Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.	73	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	DNA binding|chromo shadow domain binding|delta14-sterol reductase activity|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CTCGGCGTCTGGAAGGGGAAC	0.532000														77			8		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53986319	53986319	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:53986319C>T	uc001cvr.1	-	5	1756	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	397					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGGAGCAGCTCCTGGCCCAGG	0.677000														21			6		0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72425262	72425262	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:72425262G>A	uc001osu.3	-	3	803	c.614C>T	c.(613-615)cCt>cTt	p.P205L	ARAP1_uc001osv.3_Missense_Mutation_p.P205L|ARAP1_uc001osr.3_5'Flank|ARAP1_uc001oss.3_5'UTR|ARAP1_uc009yth.3_5'UTR|ARAP1_uc010rre.2_5'UTR	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	205					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGGAGAGGGAGGCTGGGGAGG	0.647000														0			2		0	0	1	0	0
LACRT	90070	broad.mit.edu	37	12	55025539	55025539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55025539C>T	uc001sgi.1	-	3	376	c.338G>A	c.(337-339)gGa>gAa	p.G113E		NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN	Homo sapiens lacritin (LACRT), mRNA.	113					calcineurin-NFAT signaling pathway|positive regulation of NFAT protein import into nucleus|positive regulation of epithelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						GAATTGTTTTCCACCTGGCAC	0.473000														147			57		0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125565696	125565696	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:125565696C>T	uc003yrl.2	-	14	2351	c.1817G>A	c.(1816-1818)gGa>gAa	p.G606E	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.G251E|MTSS1_uc011lin.1_Missense_Mutation_p.G376E|MTSS1_uc011lio.1_Missense_Mutation_p.G492E|MTSS1_uc003yri.2_Missense_Mutation_p.G320E|MTSS1_uc003yrj.2_Missense_Mutation_p.G577E|MTSS1_uc003yrk.2_Missense_Mutation_p.G602E	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	602					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCAATGGTTCCCCGGCGGAC	0.627000														35			18		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433119	40433119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40433119C>T	uc002omp.4	-	1	1158	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	384	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCACAGCCTCCCAGGTGAGC	0.617000														47			25		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149260061	149260061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:149260061C>T	uc002twm.4	+	12	5317	c.4320C>T	c.(4318-4320)gtC>gtT	p.V1440V	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_Silent_p.V698V|MBD5_uc002twp.3_Silent_p.V490V	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1440	PWWP.					chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACAGCCGTGTCCGGAAAAGGA	0.408000														41			9		0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73122030	73122030	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73122030C>T	uc001jrr.4	+	5	1150	c.1093C>T	c.(1093-1095)Ctc>Ttc	p.L365F	SLC29A3_uc001jrs.4_3'UTR|SLC29A3_uc010qjq.2_Missense_Mutation_p.L219F|SLC29A3_uc001jrt.4_Missense_Mutation_p.L159F	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	365					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TGGCCGGCAGCTCACCGCCTG	0.592000														208			66		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40689437	40689437	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:40689437G>A	uc001rmg.4	+	22	3208	c.3087G>A	c.(3085-3087)caG>caA	p.Q1029Q	LRRK2_uc001rmh.1_Silent_p.Q651Q|LRRK2_uc009zjw.3_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1029					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCCACAACAGCTATGTGAAG	0.338000														27			19		0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133667776	133667776	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:133667776C>T	uc003eqa.4	-	6	1175	c.901G>A	c.(901-903)Gag>Aag	p.E301K	SLCO2A1_uc011blv.2_Intron	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	301					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GACTTGGCCTCCTCCAACTTC	0.587000														78			32		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004535	75004535	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:75004535G>A	uc004ecj.2	-	0	545	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	118	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TACTCTCTGAGAAACTCCAGC	0.507000														19			12		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147743900	147743900	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:147743900G>A	uc004fcp.3	+	2	1131	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	AFF2_uc004fco.3_Missense_Mutation_p.E214K|AFF2_uc004fcq.3_Missense_Mutation_p.E214K|AFF2_uc004fcr.3_Missense_Mutation_p.E214K|AFF2_uc011mxb.2_Missense_Mutation_p.E218K|AFF2_uc004fcs.3_Missense_Mutation_p.E214K	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	218					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.E218K(2)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATCTGCAAAGGAAGACAGTAA	0.468000														53			97		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36899114	36899114	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36899114C>T	uc003cgj.3	-	11	2215	c.1967G>A	c.(1966-1968)gGa>gAa	p.G656E		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	656					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GACTGCACTTCCTTCAGGCAG	0.582000														67			17		0	0	1	0	0
AQP8	343	broad.mit.edu	37	16	25228586	25228586	+	Missense_Mutation	SNP	G	A	A	rs61733055	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:25228586G>A	uc002doc.3	+	1	162	c.80G>A	c.(79-81)cGa>cAa	p.R27Q		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	27					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GGCAGGTGGCGAGTGTCCTGG	0.577000														245			63		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215844336	215844336	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:215844336G>A	uc001hku.1	-	63	14498	c.14111C>T	c.(14110-14112)cCt>cTt	p.P4704L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4704	Fibronectin type-III 32.				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)		CTCTGTGAAAGGCAATAGTTC	0.378000										HNSCC(13;0.011)				139			41		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79341870	79341870	+	Missense_Mutation	SNP	C	T	T	rs150981409	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:79341870C>T	uc002beq.3	-	3	967	c.592G>A	c.(592-594)Gat>Aat	p.D198N	RASGRF1_uc002bep.3_Missense_Mutation_p.D198N|RASGRF1_uc010blm.1_Missense_Mutation_p.D120N|RASGRF1_uc002ber.4_Missense_Mutation_p.D198N	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	198					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGTCTTCATCGTTGGGGGCG	0.557000														69			13		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52580396	52580396	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:52580396C>T	uc001jjj.3	-	7	971	c.783G>A	c.(781-783)agG>agA	p.R261R	A1CF_uc010qho.2_Silent_p.R269R|A1CF_uc010qhn.2_Silent_p.R269R|A1CF_uc009xov.3_Silent_p.R261R|A1CF_uc001jji.3_Silent_p.R261R|A1CF_uc001jjh.3_Silent_p.R269R	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	261	RRM 3.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E260Q(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTTCTTCACCCTCTCCACAG	0.393000														62			8		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	670560	670560	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:670560C>T	uc001qii.1	+	19	2940	c.2940C>T	c.(2938-2940)ttC>ttT	p.F980F	B4GALNT3_uc001qik.1_Silent_p.F529F	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	980						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGAATTTCTTCCATCATTTCC	0.592000														31			7		0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82323694	82323694	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:82323694C>T	uc004ald.3	+	13	2180	c.1331C>T	c.(1330-1332)tCa>tTa	p.S444L	TLE4_uc004alc.3_Missense_Mutation_p.S419L|TLE4_uc010mpr.3_Missense_Mutation_p.S298L|TLE4_uc004ale.3_Missense_Mutation_p.S56L|TLE4_uc011lsq.2_Missense_Mutation_p.S387L|TLE4_uc010mps.3_Missense_Mutation_p.S343L|TLE4_uc004alf.3_Missense_Mutation_p.S358L	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						TATGGGAGATCACCAGTGGTG	0.582000														25			9		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32183144	32183144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32183144G>A	uc003obb.3	-	11	2019	c.1880C>T	c.(1879-1881)cCc>cTc	p.P627L	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	627	EGF-like 16.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGCACACAGGGGAACCTCACA	0.557000														17			6		0	0	1	0	0
GMEB2	26205	broad.mit.edu	37	20	62221711	62221711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62221711G>A	uc002yfp.1	-	8	1803	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S	GMEB2_uc002yfo.1_Missense_Mutation_p.P364S|GMEB2_uc002yfq.1_Missense_Mutation_p.P442S	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 2 (GMEB2), mRNA.	442					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			ACTGTGCTGGGGTAGGTGGAG	0.697000														25			9		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3729195	3729195	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:3729195G>T	uc002kmf.3	-	6	2058	c.1531C>A	c.(1531-1533)Ctg>Atg	p.L511M	DLGAP1_uc010wyz.2_Missense_Mutation_p.L511M|DLGAP1_uc010dkn.3_Missense_Mutation_p.L209M|DLGAP1_uc002kme.2_Missense_Mutation_p.L209M|DLGAP1_uc010wyw.2_Missense_Mutation_p.L217M|DLGAP1_uc010wyx.2_Missense_Mutation_p.L223M|DLGAP1_uc010wyy.2_Missense_Mutation_p.L223M|DLGAP1_uc002kmg.3_Missense_Mutation_p.L209M|DLGAP1_uc002kmk.2_Missense_Mutation_p.L511M	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	511					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.S510F(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GACGACCTCAGGGACACGCAC	0.687000														41			6		0.0215528	0.0215558	1	1	0
NAP1L2	4674	broad.mit.edu	37	X	72434306	72434306	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:72434306T>C	uc004ebi.3	-	0	405	c.23A>G	c.(22-24)aAg>aGg	p.K8R		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	8					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TGACAGCTCCTTGCGGTTCTC	0.547000														32			25		0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96967005	96967005	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96967005G>A	uc001kke.3	+	3	569	c.444G>A	c.(442-444)aaG>aaA	p.K148K	C10orf129_uc009xuu.1_Silent_p.K58K	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	148					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TGACTGCCAAGAAAATTCGCT	0.463000														77			10		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108147413	108147413	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108147413C>T	uc003dxa.1	-	27	3745	c.3688G>A	c.(3688-3690)Gaa>Aaa	p.E1230K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1230						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						TTGTCTTTTTCCAGTTTCTGC	0.488000														105			55		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134125730	134125730	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:134125730C>T	uc003ytw.3	+	43	7678	c.7637C>T	c.(7636-7638)tCt>tTt	p.S2546F	TG_uc010mdw.3_Missense_Mutation_p.S1305F|TG_uc011ljb.2_Missense_Mutation_p.S915F|TG_uc011ljc.2_Missense_Mutation_p.S679F	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2546					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGCAGAATTCTCTGGGTGGC	0.512000														70			27		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545094	82545094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82545094C>T	uc003uhx.2	-	6	12497	c.12208G>A	c.(12208-12210)Gaa>Aaa	p.E4070K	PCLO_uc003uhv.2_Missense_Mutation_p.E4070K|PCLO_uc010lec.3_Missense_Mutation_p.E1035K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4001					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						AGATCCTTTTCATGAAGGCTA	0.448000														17			3		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77406534	77406534	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:77406534G>A	uc021sqy.1	-	7	5781	c.5205C>T	c.(5203-5205)tcC>tcT	p.S1735S		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1735					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TACAACTGAGGGAGTCTGTAG	0.463000														127			28		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18014197	18014197	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:18014197C>T	uc001ban.3	+	26	3298	c.3139C>T	c.(3139-3141)Ctg>Ttg	p.L1047L	ARHGEF10L_uc009vpe.1_Silent_p.L1008L|ARHGEF10L_uc001bao.3_Silent_p.L1008L|ARHGEF10L_uc001bap.3_Silent_p.L1003L|ARHGEF10L_uc001baq.3_Silent_p.L808L|ARHGEF10L_uc010ocs.2_Silent_p.L820L|ARHGEF10L_uc001bar.3_Silent_p.L750L|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	1047					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCTGGAGCATCTGCAAGAGAT	0.642000														49			11		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307838	46307838	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46307838G>A	uc002pdm.3	-	2	1496	c.1325C>T	c.(1324-1326)cCc>cTc	p.P442L	RSPH6A_uc002pdl.3_Missense_Mutation_p.P178L	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	442						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						AGTGACGTGGGGCAGCCGCGT	0.632000														66			18		0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60886927	60886927	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60886927G>A	uc009ynk.3	+	4	788	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	229	SRCR 2.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GGAGCCACGGGAACACCAGCC	0.557000														56			20		0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91312713	91312713	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:91312713C>T	uc002bpr.3	+	11	2549	c.2452C>T	c.(2452-2454)Cgc>Tgc	p.R818C	BLM_uc010uqh.2_Missense_Mutation_p.R818C|BLM_uc010uqi.2_Missense_Mutation_p.R443C|BLM_uc010bnx.3_Missense_Mutation_p.R818C	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	818	Helicase ATP-binding.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GAATATGCTTCGCCAGAAGTT	0.428000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					92			65		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186545533	186545533	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:186545533C>T	uc003iyg.3	-	12	1412	c.1380G>A	c.(1378-1380)cgG>cgA	p.R460R	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.R446R|SORBS2_uc003iyl.3_Silent_p.R346R|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.R250R|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	346						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TTGGTGAGTCCCGAGGGACAT	0.502000														69			25		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885298	39885298	+	Silent	SNP	C	T	T	rs139289744	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:39885298C>T	uc001zkh.3	+	17	3044	c.2865C>T	c.(2863-2865)acC>acT	p.T955T	THBS1_uc010bbi.3_Silent_p.T427T	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	955					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCAGTGAGACCGATTTCCGCC	0.502000														44			13		0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133333958	133333958	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:133333958C>T	uc010mza.3	+	4	1081	c.573C>T	c.(571-573)tcC>tcT	p.S191S	ASS1_uc004bzm.3_Silent_p.S115S|ASS1_uc004bzn.3_Silent_p.S115S	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	115			E -> K (in CTLN1).|E -> Q (in CTLN1).		arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	AGTATGTGTCCCACGGCGCCA	0.647000														22			6		0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36900680	36900680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:36900680G>A	uc003apn.4	-	1	769	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	FOXRED2_uc003apo.4_Missense_Mutation_p.R221C|FOXRED2_uc003app.4_Missense_Mutation_p.R221C	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA.	221					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAGTTCCCACGACCCAGGATC	0.567000														45			18		0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160808825	160808825	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160808825G>A	uc009wtq.3	-	3	910	c.685C>T	c.(685-687)Ccg>Tcg	p.P229S	CD244_uc001fxa.3_Missense_Mutation_p.P224S|CD244_uc009wtr.3_Missense_Mutation_p.P132S|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	229					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACCAAAAACGGCCAAAATCTG	0.522000														51			19		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42683154	42683154	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42683154G>A	uc010ggo.3	+	4	907	c.867G>A	c.(865-867)gaG>gaA	p.E289E	TOX2_uc002xle.4_Silent_p.E247E|TOX2_uc010ggp.3_Silent_p.E247E|TOX2_uc002xlf.4_Silent_p.E298E|TOX2_uc010zwk.2_Silent_p.E167E	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCCTGGGAGAGGAACAGAAGC	0.572000														31			12		0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60635212	60635212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60635212C>T	uc001nqd.3	+	0	198	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	60					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.L60F(2)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCCAGACTCTCCGCTTCAA	0.677000														19			14		0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48666444	48666444	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:48666444C>A	uc011mmi.1	+	8	732	c.637C>A	c.(637-639)Cct>Act	p.P213T	HDAC6_uc004dks.1_Missense_Mutation_p.P213T|HDAC6_uc010nig.1_Missense_Mutation_p.P61T|HDAC6_uc004dkt.1_Missense_Mutation_p.P213T|HDAC6_uc011mmj.1_Missense_Mutation_p.P158T|HDAC6_uc011mmk.1_Missense_Mutation_p.P194T	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	213	Histone deacetylase 1.				Hsp90 deacetylation|aggresome assembly|cellular response to hydrogen peroxide|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	Hsp90 protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|microtubule binding|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GCCCAGGCCTCCTGGACATCA	0.547000														7			5		0.000602214	0.000602873	1	1	0
ABCE1	6059	broad.mit.edu	37	4	146029175	146029175	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:146029175C>T	uc003ijx.3	+	3	638	c.198C>T	c.(196-198)ccC>ccT	p.P66P	ABCE1_uc003ijy.3_Silent_p.P66P|ABCE1_uc010iot.3_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	66	4Fe-4S ferredoxin-type 2.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					AGAAATGCCCCTTTGGCGCCT	0.294000														44			19		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829430	146829430	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:146829430G>A	uc003weu.2	+	7	1693	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	393					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.Q392K(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCTTAACCAGGACCTGTTCTC	0.478000										HNSCC(39;0.1)				83			30		0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431164	56431164	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56431164G>A	uc010rjm.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TTGAAGCAATGGATAAAGAAA	0.398000														151			40		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033513	82033513	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:82033513C>T	uc002fgu.3	-	2	513	c.385G>A	c.(385-387)Gga>Aga	p.G129R		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	129					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						ACTTGACCTCCAAAGATGACA	0.488000														91			12		0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43821097	43821097	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:43821097C>T	uc011apz.2	+	1	546	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	MPPED1_uc011apv.2_Missense_Mutation_p.R36W|MPPED1_uc011apw.2_Intron|MPPED1_uc011apx.2_Intron|MPPED1_uc011apy.2_Missense_Mutation_p.R36W	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	36							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GATGGCCGCTCGGCGGCACCA	0.662000														36			23		0	0	1	0	0
C10orf118	55088	broad.mit.edu	37	10	115889665	115889665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115889665G>A	uc001lbb.1	-	12	2819	c.2167C>T	c.(2167-2169)Cgt>Tgt	p.R723C	C10orf118_uc009xyd.1_Missense_Mutation_p.R321C|C10orf118_uc009xye.1_Non-coding_Transcript|C10orf118_uc001lbc.1_Missense_Mutation_p.R723C	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	Homo sapiens chromosome 10 open reading frame 118 (C10orf118), mRNA.	723	Ser-rich.									NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		GAACTAGAACGACTTCCCATG	0.368000														92			38		0	0	1	0	0
CHMP1B	57132	broad.mit.edu	37	18	11851674	11851674	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:11851674C>T	uc002kqe.3	+	0	286	c.164C>T	c.(163-165)gCc>gTc	p.A55V	GNAL_uc002kqc.2_Intron|GNAL_uc002kqd.2_Intron|GNAL_uc010dkz.2_Intron	NM_020412	NP_065145	Q7LBR1	CHM1B_HUMAN	Homo sapiens charged multivesicular body protein 1B (CHMP1B), mRNA.	55					cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|lung(1)|urinary_tract(1)	3						GCCGAAAATGCCATCCGCCAG	0.527000														42			15		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13920608	13920608	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13920608C>T	uc003jfd.2	-	5	821	c.779G>A	c.(778-780)tGg>tAg	p.W260*	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	260	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)					CTGTTTGATCCATACTTTCAT	0.398000									Kartagener syndrome					100			32		0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18754784	18754784	+	Missense_Mutation	SNP	C	T	T	rs139371305		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:18754784C>T	uc001mpd.3	-	10	1647	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	PTPN5_uc001mpb.3_Missense_Mutation_p.E374K|PTPN5_uc001mpc.3_Missense_Mutation_p.E406K|PTPN5_uc010rdj.2_Missense_Mutation_p.E350K|PTPN5_uc001mpf.3_Missense_Mutation_p.E382K|PTPN5_uc001mpe.3_Missense_Mutation_p.E374K|PTPN5_uc010rdk.2_Missense_Mutation_p.E351K	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	406	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						GTCCCTACCTCGTTCATCTCC	0.517000														82			33		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42608869	42608869	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:42608869G>A	uc003bcj.1	-	0	2577	c.2443C>T	c.(2443-2445)Ccc>Tcc	p.P815S	TCF20_uc003bck.1_Missense_Mutation_p.P815S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	815					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCCCAGTGGGGATTTTCTAAT	0.443000														70			30		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81744902	81744902	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:81744902C>T	uc010tvu.2	-	3	951	c.753G>A	c.(751-753)ctG>ctA	p.L251L	STON2_uc001xvk.1_Silent_p.L251L|STON2_uc010tvt.2_Silent_p.L48L	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	251					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TATTTGGCTTCAGAGGAGAGG	0.502000														85			10		0	0	1	0	0
RNASE12	493901	broad.mit.edu	37	14	21058675	21058675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21058675G>A	uc001vxt.3	-	0	308	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	RNASE11_uc010ahv.3_5'Flank|RNASE11_uc010ahx.3_5'Flank|RNASE11_uc010ahw.3_5'Flank|RNASE11_uc001vxs.3_5'Flank|AX747992_uc001vxu.1_Non-coding_Transcript	NM_001024822	NP_001019993	Q5GAN4	RNS12_HUMAN	Homo sapiens ribonuclease, RNase A family, 12 (non-active) (RNASE12), mRNA.	70						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		GGCCTCTCATGGATGAAGACA	0.438000														123			11		0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14287146	14287146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:14287146G>A	uc001mle.3	+	16	2602	c.2334G>A	c.(2332-2334)atG>atA	p.M778I		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	779	TSP type-1 6.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AACGTTACATGACTGTAAAGA	0.473000														20			15		0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115574931	115574931	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:115574931G>A	uc004eqi.3	+	4	760	c.629G>A	c.(628-630)gGg>gAg	p.G210E	SLC6A14_uc011mtm.2_Non-coding_Transcript	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	210					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.G210G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TATCAGCCAGGGCAGCTTCCC	0.328000														30			31		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12979903	12979903	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12979903C>T	uc002mvm.3	+	21	2925	c.2797C>T	c.(2797-2799)Ctt>Ttt	p.L933F		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	933					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AAGTTCACCCCTTGCTAGTCC	0.562000														72			23		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10315990	10315990	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10315990G>A	uc002gmm.2	-	12	1298	c.1203C>T	c.(1201-1203)gcC>gcT	p.A401A	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	401	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGTAGCAGAGGGCTTTGAGTA	0.498000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					133			94		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139907985	139907985	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139907985G>A	uc004ckm.1	-	28	4615	c.4565C>T	c.(4564-4566)tCc>tTc	p.S1522F	ABCA2_uc022bpy.1_Missense_Mutation_p.S1423F|ABCA2_uc022bpz.1_Missense_Mutation_p.S1493F|ABCA2_uc011mem.1_Missense_Mutation_p.S1492F|ABCA2_uc004ckl.1_Missense_Mutation_p.S1423F|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1492					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGGTACTGGGAAGGTGACAG	0.687000														12			4		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160732029	160732029	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:160732029C>T	uc002ubb.4	-	11	1974	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	LY75-CD302_uc010fos.3_Missense_Mutation_p.E634K|LY75-CD302_uc002ubc.4_Missense_Mutation_p.E634K|LY75-CD302_uc010fot.2_Missense_Mutation_p.E634K	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	634					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										GGGGATGCTTCTTCAGGCCCA	0.473000														160			49		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1104238	1104238	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1104238C>T	uc001lsx.1	+	50	8444	c.8417C>T	c.(8416-8418)tCc>tTc	p.S2806F		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	5172						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCCCGGCGCTCCCCTAGGCAT	0.706000														21			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179393620	179393620	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179393620C>T	uc021vsy.1	-	308	99379	c.99154G>A	c.(99154-99156)Gaa>Aaa	p.E33052K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E26747K|TTN_uc021vta.1_Missense_Mutation_p.E26680K|TTN_uc021vtb.1_Missense_Mutation_p.E26555K|TTN_uc002umq.3_Missense_Mutation_p.E69K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33979							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)			CTTTGACCTTCGTTTATGCTC	0.418000														47			22		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87965964	87965964	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:87965964C>T	uc003plm.4	+	7	2658	c.2617C>T	c.(2617-2619)Cct>Tct	p.P873S		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATCTATGCTTCCTTCAGAAAA	0.398000														43			5		0	0	1	0	0
MTERFD2	130916	broad.mit.edu	37	2	242039363	242039363	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242039363G>A	uc002wan.1	-	0	548	c.55C>T	c.(55-57)Cca>Tca	p.P19S	MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Intron	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	Homo sapiens MTERF domain containing 2 (MTERFD2), transcript variant 1, mRNA.	0										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CAGTGTAATGGACACCATAAG	0.443000														20			6		0	0	1	0	0
PNPLA8	50640	broad.mit.edu	37	7	108119732	108119732	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:108119732G>A	uc003vff.1	-	10	2377	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F	PNPLA8_uc003vfi.1_Missense_Mutation_p.S557F|PNPLA8_uc003vfh.1_Missense_Mutation_p.S657F|PNPLA8_uc003vfj.1_Missense_Mutation_p.S657F|PNPLA8_uc003vfk.1_Missense_Mutation_p.S557F	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA.	657					fatty acid metabolic process|lipid catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AGTGCCCAGGGATACTATGCA	0.418000														117			40		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103343647	103343647	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:103343647G>A	uc001dum.3	-	66	5703	c.5385C>T	c.(5383-5385)gtC>gtT	p.V1795V	COL11A1_uc001duk.3_Silent_p.V979V|COL11A1_uc001dul.3_Silent_p.V1783V|COL11A1_uc001dun.3_Silent_p.V1744V|COL11A1_uc009weh.3_Silent_p.V1667V	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1783	Fibrillar collagen NC1.				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)		CATTGATCATGACATCAACAA	0.323000														62			35		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767876	57767876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:57767876G>A	uc002yan.3	+	0	1802	c.1802G>A	c.(1801-1803)aGa>aAa	p.R601K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	601						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCAAGGGCAGAGCGGGCGGC	0.622000														67			18		0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3391706	3391706	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:3391706C>T	uc002qxm.1	+	1	518	c.312C>T	c.(310-312)ccC>ccT	p.P104P	TRAPPC12_uc002qxn.1_Silent_p.P104P|TRAPPC12_uc010ewm.1_Silent_p.P104P	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.	104							binding										GCCCGGAGCCCGCGGGCACCC	0.771000														5			4		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124330411	124330411	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124330411C>T	uc001lgk.1	+	3	251	c.145C>T	c.(145-147)Cca>Tca	p.P49S	DMBT1_uc001lgl.1_Missense_Mutation_p.P49S|DMBT1_uc001lgm.1_Missense_Mutation_p.P49S|DMBT1_uc021qaf.1_Missense_Mutation_p.P49S|DMBT1_uc021qag.1_Missense_Mutation_p.P49S|DMBT1_uc021qah.1_Missense_Mutation_p.P49S|DMBT1_uc009xzz.1_Missense_Mutation_p.P49S|DMBT1_uc010qtx.1_Missense_Mutation_p.P49S|DMBT1_uc009yaa.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	49					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCAGGTTCTCCATTTCCCTC	0.552000														135			60		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922879	24922879	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24922879C>T	uc001ywo.3	+	0	2339	c.1865C>T	c.(1864-1866)tCc>tTc	p.S622F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	622					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)		GTCTACACATCCCCACTTCCA	0.483000														80			40		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47746591	47746591	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47746591G>A	uc003gxm.3	-	4	720	c.627C>T	c.(625-627)ctC>ctT	p.L209L	CORIN_uc011bzf.2_Silent_p.L70L|CORIN_uc011bzg.2_Silent_p.L142L|CORIN_uc011bzh.1_Silent_p.L209L|CORIN_uc011bzi.1_Silent_p.L209L|CORIN_uc003gxn.4_Silent_p.L209L	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	209	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.L209F(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TACAGGGCAGGAGTCCATGAC	0.418000														139			13		0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120371457	120371457	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:120371457C>T	uc003edw.3	-	4	784	c.324G>A	c.(322-324)aaG>aaA	p.K108K	HGD_uc003edv.3_5'Flank	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	108					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AGTCTACTTTCTTCTGAGATG	0.428000														46			11		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120387522	120387522	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:120387522C>T	uc002tmb.3	+	17	1976	c.864C>T	c.(862-864)ttC>ttT	p.F288F	PCDP1_uc010yyq.2_Silent_p.F418F	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	574						cilium	calmodulin binding					Colorectal(110;0.196)					ATTCCTTCTTCAATCTGCAGG	0.333000														47			25		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13829732	13829732	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13829732G>A	uc003jfd.2	-	37	6373	c.6331C>T	c.(6331-6333)Cgt>Tgt	p.R2111C		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2111	AAA 1 (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)					ATAATCTGACGGTCAGGCACC	0.463000									Kartagener syndrome					83			25		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085995	9085995	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9085995G>A	uc002mkp.3	-	0	6024	c.5820C>T	c.(5818-5820)tcC>tcT	p.S1940S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1940	Ser-rich.|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						CCACTGGAATGGATGAAAAAG	0.488000														34			12		0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37602795	37602795	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37602795C>T	uc003ara.3	-	1	1110	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	SSTR3_uc003arb.3_Missense_Mutation_p.E350K|SSTR3_uc021wos.1_Missense_Mutation_p.E350K	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	350	Glu-rich (acidic).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						tcatcctcctcctcAGTCTTC	0.687000														51			26		0	0	1	0	0
DHX40	79665	broad.mit.edu	37	17	57679906	57679906	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:57679906C>T	uc002ixn.2	+	14	1977	c.1830C>T	c.(1828-1830)acC>acT	p.T610T	DHX40_uc010woe.2_Silent_p.T533T|DHX40_uc010wof.2_Silent_p.T125T	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	610							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CAAAAGAGACCTTTGAAGGCC	0.338000														74			21		0	0	1	0	0
KDM5D	8284	broad.mit.edu	37	Y	21903332	21903332	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:21903332G>A	uc004fug.3	-	4	682	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	KDM5D_uc011naz.2_Missense_Mutation_p.R132C|KDM5D_uc010nwy.3_Intron|KDM5D_uc011nba.1_Missense_Mutation_p.R132C|KDM5D_uc004fuh.2_Missense_Mutation_p.R132C	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN	Homo sapiens lysine (K)-specific demethylase 5D (KDM5D), transcript variant 2, mRNA.	132	ARID.				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	GCCCACCGACGATCCTTGCAG	0.478000														16			10		0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633295	106633295	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:106633295G>A	uc001tlk.3	-	1	1400	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	Homo sapiens cytoskeleton-associated protein 4 (CKAP4), mRNA.	439						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CTGGCTCTTGGACAGGAGGGA	0.687000														79			9		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943017	12943017	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12943017G>A	uc001aun.2	-	1	270	c.199C>T	c.(199-201)Cct>Tct	p.P67S		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	67										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTCAGAGGGAGGCGGCGG	0.602000														79			26		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393331	145393331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:145393331C>T	uc003lnt.3	+	4	1004	c.766C>T	c.(766-768)Ctt>Ttt	p.L256F	SH3RF2_uc011dbl.1_Missense_Mutation_p.L256F	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	256							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)			CGCAAGACACCTTTTAGAGAA	0.507000														89			11		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8938378	8938378	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:8938378A>C	uc002qzc.2	-	9	1135	c.953T>G	c.(952-954)gTg>gGg	p.V318G	KIDINS220_uc010yiv.1_Missense_Mutation_p.V84G|KIDINS220_uc002qzd.2_Missense_Mutation_p.V276G|KIDINS220_uc010yiw.1_Missense_Mutation_p.V319G	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	318					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GATATCTCTCACCATTGTTGC	0.328000														44			24		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48684206	48684207	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48684206_48684207GG>AA	uc003cuf.1	-	22	7494_7495	c.7494_7495CC>TT	c.(7492-7497)cgccga>cgTTga	p.R2499*	CELSR3_uc010hkf.3_5'Flank|CELSR3_uc010hkg.3_Nonsense_Mutation_p.R412*|CELSR3_uc003cul.3_Nonsense_Mutation_p.R2429*|CELSR3_uc021wxq.1_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2429	GPS.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGGCACCTCGGCGTTCTGCCT	0.594000														31			8		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150698983	150698983	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150698983C>T	uc003wif.3	+	12	1873	c.1577C>T	c.(1576-1578)tCc>tTc	p.S526F	NOS3_uc011kuy.2_Missense_Mutation_p.S320F|NOS3_uc011kva.2_Missense_Mutation_p.S526F|NOS3_uc011kuz.2_Missense_Mutation_p.S526F|NOS3_uc011kvb.2_Missense_Mutation_p.S526F	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	526	Flavodoxin-like.				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)	CTGTATGGCTCCGAGACCGGC	0.652000														49			27		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187840	152187840	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152187840C>T	uc001ezt.1	-	2	6341	c.6265G>A	c.(6265-6267)Ggt>Agt	p.G2089S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2089					keratinization		calcium ion binding|protein binding	p.S2088C(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGACCGACCGGAGCCAGAC	0.622000														121			45		0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3142167	3142167	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3142167G>A	uc002ctv.1	-	1	470	c.382C>T	c.(382-384)Cga>Tga	p.R128*	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Intron|ZSCAN10_uc002ctx.1_Nonsense_Mutation_p.R56*	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	128	Pro-rich.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GGCTGGGGTCGGGGAGGCTCA	0.652000														39			15		0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19506390	19506390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:19506390C>T	uc011aha.2	+	18	1834	c.1756C>T	c.(1756-1758)Cgg>Tgg	p.R586W	CDC45_uc002zpr.3_Missense_Mutation_p.R554W|CDC45_uc002zpt.3_Missense_Mutation_p.R508W	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	554					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						AGCTGAGGATCGGAGCAAGTT	0.552000														138			43		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588200	247588200	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247588200G>A	uc001icr.3	+	4	1593	c.1455G>A	c.(1453-1455)gaG>gaA	p.E485E	NLRP3_uc001ics.3_Silent_p.E485E|NLRP3_uc001icu.3_Silent_p.E485E|NLRP3_uc001icw.3_Silent_p.E485E|NLRP3_uc001icv.3_Silent_p.E485E|NLRP3_uc010pyw.2_Silent_p.E483E|NLRP3_uc001ict.1_Silent_p.E483E	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	485	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCTGTTTGAGGAGTCCGACC	0.567000														35			14		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36859727	36859727	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36859727C>T	uc002xhy.1	-	5	2020	c.1748_splice	c.e5-1	p.G583_splice	KIAA1755_uc002xhz.1_Splice_Site_p.G583_splice	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	583										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GTCCCGGCCACCTGGAGGACA	0.632000														4			3		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898704	36898704	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36898704C>T	uc003cgj.3	-	11	2625	c.2377G>A	c.(2377-2379)Gag>Aag	p.E793K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	793					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GAAGTGCACTCGATCTCCCAG	0.493000														268			105		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133208969	133208969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:133208969G>A	uc001uks.1	-	44	6306	c.6262C>T	c.(6262-6264)Cct>Tct	p.P2088S	POLE_uc001ukq.1_Missense_Mutation_p.P298S|POLE_uc001ukr.1_Missense_Mutation_p.P892S|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	2088					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGGAGGACAGGAAACATCTCT	0.522000								DNA polymerases (catalytic subunits)						68			9		0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25670448	25670448	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25670448C>T	uc001upy.3	+	0	173	c.112C>T	c.(112-114)Ctc>Ttc	p.L38F		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	38	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGGGCCCATCCTCTCCATCCG	0.622000														75			29		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77642739	77642739	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:77642739G>A	uc021rks.1	-	69	12399	c.12132C>T	c.(12130-12132)ttC>ttT	p.F4044F	MYCBP2_uc010aev.3_Silent_p.F3410F|MYCBP2_uc001vke.3_Silent_p.F623F	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4006					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAAGCAGCGAGAAGAGATCCT	0.473000														28			10		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2071147	2071147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2071147C>T	uc003wpx.4	+	28	3614	c.3476C>T	c.(3475-3477)aCc>aTc	p.T1159I	MYOM2_uc011kwi.2_Missense_Mutation_p.T584I	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1159	Ig-like C2-type 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGAAAGAAACCGTTTTCAAA	0.408000														79			8		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173556803	173556803	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:173556803C>T	uc001giz.2	-	5	946	c.523_splice	c.e5+1	p.G175_splice	SLC9C2_uc010pmq.1_Splice_Site	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	175					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATGTGACATACCAATAGTTTT	0.318000														59			24		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625476	140625476	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140625476G>A	uc003lje.3	+	0	330	c.330G>A	c.(328-330)ctG>ctA	p.L110L		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	110	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGTGTTACTGAAAAAACCTT	0.438000														116			46		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108383284	108383284	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:108383284C>T	uc001pkk.3	-	5	3061	c.2950G>A	c.(2950-2952)Gaa>Aaa	p.E984K	EXPH5_uc010rvz.2_Missense_Mutation_p.E828K|EXPH5_uc010rvy.2_Missense_Mutation_p.E796K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	984					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTTAACTTTTCAATACAGGAT	0.378000														109			27		0	0	1	0	0
CYP17A1	1586	broad.mit.edu	37	10	104592419	104592419	+	Missense_Mutation	SNP	C	T	T	rs142037395	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104592419C>T	uc001kwg.3	-	5	1160	c.988G>A	c.(988-990)Gag>Aag	p.E330K		NM_000102	NP_000093	P05093	CP17A_HUMAN	Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.	330			Missing (in AH5; complete loss of both 17alpha-hydroxylase and 17,20-lyase activities).		androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	TCAATCTCCTCGTAGAGCTTC	0.532000														76			33		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211438116	211438116	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:211438116A>T	uc010fur.3	+	2	321	c.239A>T	c.(238-240)aAt>aTt	p.N80I	CPS1_uc002vee.4_Missense_Mutation_p.N74I	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	74	Anthranilate phosphoribosyltransferase homolog.				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.Y80Y(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)		GTGGTTTTTAATACTGGCCTG	0.433000														93			21		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32567576	32567576	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:32567576G>A	uc002yow.1	-	13	3011	c.2539C>T	c.(2539-2541)Cac>Tac	p.H847Y	TIAM1_uc011adk.1_Missense_Mutation_p.H847Y|TIAM1_uc011adl.1_Missense_Mutation_p.H787Y	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	847	PDZ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	p.H847Y(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTCTCAATGTGGATGCTCTGA	0.303000														53			14		0	0	1	0	0
HARS2	23438	broad.mit.edu	37	5	140075096	140075096	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140075096C>T	uc003lgx.3	+	4	619	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	HARS2_uc010jfv.1_Missense_Mutation_p.P65S|HARS2_uc011czr.2_Missense_Mutation_p.P110S|HARS2_uc011czs.2_Intron|HARS2_uc011czt.2_Intron|HARS2_uc011czu.2_5'UTR	NM_012208	NP_036340	P49590	SYHM_HUMAN	Homo sapiens histidyl-tRNA synthetase 2, mitochondrial (putative) (HARS2), nuclear gene encoding mitochondrial protein, mRNA.	135					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity	p.P135P(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTGAGGTTCCCTTTGCTCG	0.488000														194			61		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065396	9065396	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9065396G>A	uc002mkp.3	-	2	22254	c.22050C>T	c.(22048-22050)tcC>tcT	p.S7350S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7352	Ser-rich.|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						TTATTACCAAGGAGGGAGTGG	0.488000														45			16		0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57013070	57013070	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:57013070C>T	uc003pdm.1	+	9	2411	c.2187C>T	c.(2185-2187)atC>atT	p.I729I	ZNF451_uc003pdl.3_Silent_p.I729I|ZNF451_uc003pdn.1_Silent_p.I729I|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Silent_p.I729I	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGAGTTACATCTGTAAAGTCA	0.383000														42			10		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138453098	138453099	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:138453098_138453099CT>TC	uc003ihe.4	-	0	531_532	c.144_145AG>GA	c.(142-147)tcagag>tcGAag	p.E49K	PCDH18_uc003ihf.4_Missense_Mutation_p.E42K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	49	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S48S(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCCACATCCTCTGATAGTCTTG	0.411000														87			34		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43819304	43819304	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43819304G>A	uc001zrt.3	+	3	6100	c.5633G>A	c.(5632-5634)tGg>tAg	p.W1878*		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1878						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCTTCTCTTGGGGCACAGCC	0.657000														34			13		0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39563886	39563886	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:39563886C>T	uc003oot.2	-	6	885	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	KIF6_uc010jxa.1_Missense_Mutation_p.G55S|KIF6_uc011dua.1_Missense_Mutation_p.G264S|KIF6_uc010jxb.1_Missense_Mutation_p.G264S	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	264	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGAAGATGGCCCCCTACTCCA	0.448000														77			17		0	0	1	0	0
RNF8	9025	broad.mit.edu	37	6	37328278	37328278	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:37328278C>T	uc003onq.4	+	1	361	c.168C>T	c.(166-168)ccC>ccT	p.P56P	RNF8_uc003onr.4_Silent_p.P56P|RNF8_uc011dtx.2_5'UTR	NM_003958	NP_003949	O76064	RNF8_HUMAN	Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA.	56	FHA.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						AAATCTGCCCCCTGATGATTT	0.443000														82			25		0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8000065	8000065	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:8000065G>A	uc002gka.3	-	14	2515	c.2484C>T	c.(2482-2484)atC>atT	p.I828I	ALOXE3_uc010cnr.3_Silent_p.I672I|ALOXE3_uc010vuo.2_Silent_p.I804I	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	672					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGAAGGCGGCGATGCTCCGCC	0.622000														45			31		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124207135	124207135	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124207135G>A	uc003ehg.3	+	28	4490	c.4363G>A	c.(4363-4365)Gat>Aat	p.D1455N	KALRN_uc010hrv.1_Missense_Mutation_p.D1446N|KALRN_uc003ehf.1_Missense_Mutation_p.D1455N|KALRN_uc011bjy.1_Missense_Mutation_p.D1446N|KALRN_uc003ehh.1_Missense_Mutation_p.D801N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1455	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAAAGCCAATGATGCCATGCA	0.522000														56			27		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10525053	10525053	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:10525053G>A	uc002czw.3	+	1	735	c.576G>A	c.(574-576)aaG>aaA	p.K192K	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Silent_p.K192K|ATF7IP2_uc002czv.3_Silent_p.K192K|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TGGGTGACAAGAAAACTGACC	0.423000														102			10		0	0	1	0	0
TES	26136	broad.mit.edu	37	7	115890401	115890401	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:115890401G>A	uc003vho.3	+	3	768	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	TES_uc011kmy.2_Intron|TES_uc003vhp.3_Missense_Mutation_p.E176K|TES_uc022aki.1_Non-coding_Transcript|BD495725_uc003vhq.1_5'Flank	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	185	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			ATATAAGAGCGAAGCTCTGGG	0.512000														52			26		0	0	1	0	0
OR8G1	26494	broad.mit.edu	37	11	124121172	124121172	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124121172C>T	uc001pzx.3	+	0	750	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		CGGTTGTAATCTTTTTTGGAT	0.458000														114			10		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37325573	37325573	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:37325573T>G	uc001caz.2	-	5	967	c.832A>C	c.(832-834)Aac>Cac	p.N278H	GRIK3_uc001cba.1_Missense_Mutation_p.N278H	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	278					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCTGTCAGGTTCACGCCTGAG	0.567000														70			23		0	0	1	0	0
CRY1	1407	broad.mit.edu	37	12	107395596	107395596	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:107395596G>A	uc001tmi.3	-	3	1400	c.541C>T	c.(541-543)Cct>Tct	p.P181S		NM_004075	NP_004066	Q16526	CRY1_HUMAN	Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.	181					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA photolyase activity|blue light photoreceptor activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCAGACAGAGGAGTTGTGCAC	0.398000														139			45		0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86518066	86518066	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:86518066G>A	uc004ana.3	-	3	1511	c.1367C>T	c.(1366-1368)tCa>tTa	p.S456L	KIF27_uc010mpw.3_Missense_Mutation_p.S456L|KIF27_uc010mpx.3_Missense_Mutation_p.S456L	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	456					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCCTCGAAATGAGGTGAGGAC	0.463000														65			19		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33342596	33342596	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33342596G>A	uc002xav.3	-	8	4175	c.1604C>T	c.(1603-1605)tCg>tTg	p.S535L	NCOA6_uc002xaw.3_Missense_Mutation_p.S535L|NCOA6_uc021wcd.1_Missense_Mutation_p.S535L|NCOA6_uc021wce.1_Missense_Mutation_p.S535L|NCOA6_uc021wcf.1_Missense_Mutation_p.S535L	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	535	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGCTGTGGTCGAAGGCACCTG	0.498000														85			10		0	0	1	0	0
ISOC1	51015	broad.mit.edu	37	5	128440889	128440889	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:128440889C>T	uc003kva.3	+	2	459	c.441C>T	c.(439-441)gcC>gcT	p.A147A		NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	Homo sapiens isochorismatase domain containing 1 (ISOC1), mRNA.	147						peroxisome	catalytic activity			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		TGCAAGGGGCCCGGATTTTAG	0.343000														73			15		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11584065	11584065	+	Missense_Mutation	SNP	G	A	A	rs61744927		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11584065G>A	uc001ash.4	+	10	2567	c.2429G>A	c.(2428-2430)cGa>cAa	p.R810Q	PTCHD2_uc001asi.1_Missense_Mutation_p.R810Q	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	810					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)		AAGAAGAGGCGAGGCTCAGGG	0.652000														50			6		0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73826224	73826224	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73826224C>T	uc002jpp.3	-	29	3219	c.2839G>A	c.(2839-2841)Gac>Aac	p.D947N		NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	947	C2 2.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACAAAGGGGTCGCTGGAGCCT	0.637000									Familial Hemophagocytic Lymphohistiocytosis		OREG0024741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		8			7		0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43900332	43900332	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43900332G>A	uc001zsf.3	-	16	3705	c.3627C>T	c.(3625-3627)ttC>ttT	p.F1209F	STRC_uc010bdl.3_Silent_p.F436F|STRC_uc001zse.3_5'UTR	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1209					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CCACTTCAAGGAAGTCTACCA	0.582000														61			23		0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1395328	1395328	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1395328G>A	uc002clk.2	+	21	2282	c.2124G>A	c.(2122-2124)agG>agA	p.R708R	BAIAP3_uc010uuz.2_Silent_p.R673R|BAIAP3_uc010uva.2_Silent_p.R645R|BAIAP3_uc021tag.1_Silent_p.R650R|BAIAP3_uc002clj.3_Silent_p.R690R|BAIAP3_uc010uvc.1_Silent_p.R637R	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	708	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AAGTGCTGAGGGACCAGGCCA	0.672000														32			21		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129148439	129148439	+	Missense_Mutation	SNP	C	T	T	rs144104600		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:129148439C>T	uc022cdu.1	+	2	1735	c.1691C>T	c.(1690-1692)cCa>cTa	p.P564L	BCORL1_uc010nrd.1_Missense_Mutation_p.P466L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	564	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTTCCAACTCCACAGCCTCTG	0.637000														60			31		0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45689189	45689189	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:45689189C>T	uc003bfy.3	+	4	726	c.699C>T	c.(697-699)agC>agT	p.S233S	UPK3A_uc010gzy.3_Silent_p.S112S	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	233					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TTGCCCTCAGCCTCGTGTAAG	0.632000														74			25		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634006	70634006	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70634006C>T	uc001xly.3	-	1	1888	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K	SLC8A3_uc001xlw.3_Silent_p.K378K|SLC8A3_uc001xlx.3_Silent_p.K378K|SLC8A3_uc001xlz.3_Silent_p.K378K|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	378					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGGAGGCCTTCTTGGCTTGTT	0.517000														106			54		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7675993	7675993	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7675993C>T	uc002mgu.4	+	10	1244	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	CAMSAP3_uc002mgv.4_Silent_p.F354F	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	354					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CTCCTGTCTTCACCTTCCGCC	0.652000														81			41		0	0	1	0	0
NUCB2	4925	broad.mit.edu	37	11	17323410	17323410	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17323410C>T	uc001mmw.3	+	4	617	c.372C>T	c.(370-372)tcC>tcT	p.S124S	NUCB2_uc001mms.1_Silent_p.S125S|NUCB2_uc001mmt.1_Silent_p.S124S|NUCB2_uc001mmv.1_Silent_p.S124S|NUCB2_uc009ygz.3_Silent_p.S124S	NM_005013	NP_005004	P80303	NUCB2_HUMAN	Homo sapiens nucleobindin 2 (NUCB2), mRNA.	124						ER-Golgi intermediate compartment|Golgi apparatus|cytosol|extracellular space|plasma membrane	DNA binding|calcium ion binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGTTGGATTCCCTTCAAGGTA	0.378000														64			22		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107022146	107022146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:107022146G>A	uc001kyi.1	+	25	3728	c.3501G>A	c.(3499-3501)atG>atA	p.M1167I		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1167						integral to membrane	neuropeptide receptor activity	p.M1167I(2)|p.E1166D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCAGGAGATGATTGGGTCAG	0.498000														59			27		0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72862289	72862289	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72862289G>A	uc010wrl.2	-	4	687	c.600C>T	c.(598-600)ttC>ttT	p.F200F	FDXR_uc010wri.2_Silent_p.F105F|FDXR_uc010wrj.2_Silent_p.F155F|FDXR_uc002jlw.3_5'UTR|FDXR_uc002jlx.3_Silent_p.F157F|FDXR_uc002jly.3_Silent_p.F157F|FDXR_uc010wrk.2_Silent_p.F188F|FDXR_uc010wrm.2_Silent_p.F117F|FDXR_uc002jlz.3_Silent_p.F149F|FDXR_uc002jmb.3_Non-coding_Transcript	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	157					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					ACCAGCCCACGAAGGCCCGGG	0.652000														114			11		0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205890756	205890756	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205890756G>A	uc001hdp.3	-	16	2107	c.1993C>T	c.(1993-1995)Ctc>Ttc	p.L665F	SLC26A9_uc001hdo.3_Missense_Mutation_p.L333F|SLC26A9_uc001hdq.3_Missense_Mutation_p.L665F	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	665	STAS.					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)			TCCAGGATGAGGGTGTGGAAG	0.647000														19			5		0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52052496	52052496	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:52052496C>T	uc003pak.1	+	1	168	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_002190	NP_002181	Q16552	IL17_HUMAN	Homo sapiens interleukin 17A (IL17A), mRNA.	41					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	p.F41F(2)		endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					ACAAGAACTTCCCCCGGACTG	0.498000														203			16		0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115573981	115573981	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:115573981C>T	uc004eqi.3	+	3	604	c.473C>T	c.(472-474)tCg>tTg	p.S158L	SLC6A14_uc011mtm.2_Non-coding_Transcript	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	158					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	AATTGTTCTTCGTGGTCAGAT	0.303000														34			64		0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57719769	57719770	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:57719769_57719770GG>AA	uc002emh.3	+	10	1574_1575	c.1471_1472GG>AA	c.(1471-1473)ggg>AAg	p.G491K	GPR97_uc010vhv.2_Missense_Mutation_p.G371K|GPR97_uc010cdd.3_Non-coding_Transcript|GPR97_uc010cde.3_Missense_Mutation_p.G99K	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	491					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGTGACATGGGGGTTGGCCATC	0.614000														54			22		0	0	1	0	0
FAM86FP	653113	broad.mit.edu	37	12	8384153	8384153	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8384153G>A	uc010sgk.2	-	4		c.1635C>T								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		TTGGGTCGGGGACCTGGGGTC	0.557000														8			3		0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20216529	20216529	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:20216529G>A	uc003cbu.3	-	5	649	c.494C>T	c.(493-495)cCt>cTt	p.P165L	SGOL1_uc003cbw.3_Intron|SGOL1_uc003cbv.3_Missense_Mutation_p.P165L|SGOL1_uc003cbt.3_Missense_Mutation_p.P165L|SGOL1_uc010hfa.3_Missense_Mutation_p.P165L|SGOL1_uc003cbs.3_Missense_Mutation_p.P165L|SGOL1_uc003cbr.3_Intron|SGOL1_uc003ccc.3_Intron|SGOL1_uc021wtx.1_Missense_Mutation_p.P44L|SGOL1_uc021wty.1_Intron|SGOL1_uc003ccb.3_Missense_Mutation_p.P165L|SGOL1_uc003cca.3_Missense_Mutation_p.P165L|SGOL1_uc003cby.3_Intron|SGOL1_uc003cbx.3_Missense_Mutation_p.P165L|SGOL1_uc003cbz.3_Missense_Mutation_p.P165L	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	165	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TGTGTCTTGAGGAATAGTAGG	0.308000														43			22		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606158	21606158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:21606158C>T	uc003cce.3	-	2	592	c.184G>A	c.(184-186)Gct>Act	p.A62T	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	62						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTTATTACAGCTTTCTGAATC	0.348000														66			26		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238270463	238270463	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:238270463G>A	uc002vwl.2	-	14	6360	c.6075C>T	c.(6073-6075)gcC>gcT	p.A2025A	COL6A3_uc002vwo.2_Silent_p.A1819A|COL6A3_uc010znj.1_Silent_p.A1418A	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2025	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGCTTTCTCGGCAATGTTGT	0.522000														84			23		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204587068	204587068	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204587068G>T	uc021phy.1	-	0	2053	c.2053C>A	c.(2053-2055)Ccc>Acc	p.P685T	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.P685T|LRRN2_uc001hbf.1_Missense_Mutation_p.P685T|LRRN2_uc009xbf.1_Missense_Mutation_p.P685T|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	685					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGGACGAGGGGAGCAGACACA	0.617000														116			39		1.66425e-11	1.67067e-11	1	1	0
SLIT3	6586	broad.mit.edu	37	5	168212924	168212924	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:168212924G>A	uc010jjg.3	-	11	1559	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	SLIT3_uc003mab.3_Missense_Mutation_p.S380F|SLIT3_uc010jji.2_Missense_Mutation_p.S380F|SLIT3_uc003mac.1_Missense_Mutation_p.S177F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	380					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding	p.S380T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCTGTAGGGACACCAGCCC	0.502000														52			20		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64216856	64216856	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:64216856G>A	uc002jfn.4	-	4	479	c.420C>T	c.(418-420)atC>atT	p.I140I		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	140	Sushi 3.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GAGGGCAGATGATGGCTGGGA	0.368000														72			30		0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57407426	57407426	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:57407426C>A	uc004dvc.3	+	6	1109	c.960C>A	c.(958-960)tcC>tcA	p.S320S		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	320						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TTTTAATGTCCAAAGTGGACC	0.303000										HNSCC(52;0.14)				26			49		3.39706e-21	3.41656e-21	1	1	0
OR51G2	81282	broad.mit.edu	37	11	4935978	4935978	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4935978C>T	uc001lzr.1	-	0	916	c.916G>A	c.(916-918)Gat>Aat	p.D306N		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R305Q(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCACTCGATCCCGGATCTGT	0.468000														33			8		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668977	53668977	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53668977G>A	uc010eqm.1	-	3	866	c.766C>T	c.(766-768)Cat>Tat	p.H256Y		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TCTCCAGTATGAATTCTCTGA	0.398000														127			53		0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21624011	21624011	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21624011A>G	uc001rex.3	-	14	2037	c.1689T>C	c.(1687-1689)gcT>gcC	p.A563A	RECQL_uc001rey.3_Silent_p.A563A|PYROXD1_uc001rew.3_3'UTR|PYROXD1_uc009ziq.3_3'UTR	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	563					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TGGTAGCATAAGCTGTAAAAC	0.338000								Other identified genes with known or suspected DNA repair function						76			32		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348598	10348598	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10348598C>T	uc002gmn.3	-	35	5362	c.5251G>A	c.(5251-5253)Gaa>Aaa	p.E1751K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1751					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Q1750H(1)		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						TTGCGGGCTTCCTGGACGATG	0.468000														109			45		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756861	94756861	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94756861G>A	uc001yct.3	-	1	536	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S	SERPINA10_uc001ycu.4_Missense_Mutation_p.P24S	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.	24					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)		TGAGGACTGGGGGCCAAGCCG	0.642000														17			4		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164131	139164131	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:139164131G>A	uc003yuy.3	-	12	2758	c.2587C>T	c.(2587-2589)Cct>Tct	p.P863S	FAM135B_uc003yux.3_Missense_Mutation_p.P764S|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.P425S|FAM135B_uc003yvb.3_Missense_Mutation_p.P425S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	863										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)			CTGCCATCAGGAAGACAGTGT	0.478000										HNSCC(54;0.14)				85			9		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49654524	49654524	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:49654524C>T	uc001jgu.3	-	9	2352	c.2055G>A	c.(2053-2055)agG>agA	p.R685R	ARHGAP22_uc001jgs.3_Silent_p.R579R|ARHGAP22_uc001jgt.3_Silent_p.R669R|ARHGAP22_uc010qgl.2_Silent_p.R626R|ARHGAP22_uc010qgm.2_Silent_p.R675R|ARHGAP22_uc001jgv.3_Silent_p.R367R|ARHGAP22_uc001jgr.3_Silent_p.R386R	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	669					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACAGCTGGTTCCTCCTCTCCG	0.512000														90			47		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49218978	49218978	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:49218978G>A	uc010zyt.2	-	12	1541	c.1290C>T	c.(1288-1290)ggC>ggT	p.G430G	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Silent_p.G426G|FAM65C_uc002xvn.1_Silent_p.G426G	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	426										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						AGGGCAGGAAGCCCACATCTG	0.637000														66			25		0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53516948	53516948	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53516948C>T	uc001sbv.3	+	12	1408	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F	SOAT2_uc009zms.3_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	440					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TCTTCTGCTTCGTCCTGGGGT	0.592000														66			20		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141499573	141499573	+	Silent	SNP	C	T	T	rs56022585		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:141499573C>T	uc011bnd.2	+	1	1054	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	324	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GAATGTGCTTCTGGATGACCT	0.582000														30			22		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69348988	69348988	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:69348988G>A	uc002ars.2	+	15	2291	c.2250G>A	c.(2248-2250)aaG>aaA	p.K750K	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.K704K|NOX5_uc002arp.2_Silent_p.K732K|NOX5_uc010bid.2_Silent_p.K715K|NOX5_uc010bie.2_Silent_p.K550K|NOX5_uc002arr.2_Silent_p.K722K|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	750					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGGTGCTGAAGGGCCATTGTG	0.537000														66			58		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158583514	158583514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158583514C>T	uc001fst.1	-	49	7185	c.6986G>A	c.(6985-6987)gGg>gAg	p.G2329E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2329	EF-hand 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.G2329G(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCCTACCTCCCTGGATCCAC	0.493000														50			35		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63883877	63883878	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63883877_63883878GG>AA	uc021qks.1	+	0	138_139	c.138_139GG>AA	c.(136-141)acggag>acAAag	p.E47K	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.E47K	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	19	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.T46T(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CCTTCCTGACGGAGGTCATCGA	0.639000														35			11		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78069181	78069181	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:78069181G>A	uc010dht.3	+	17	2983	c.2952G>A	c.(2950-2952)aaG>aaA	p.K984K	CCDC40_uc002jxm.4_Silent_p.K767K|CCDC40_uc002jxn.4_Silent_p.K380K	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	984					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGGACAGGAAGGCGCTCACCC	0.627000														55			22		0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181482	128181482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:128181482C>T	uc003ekk.1	-	2	2268	c.607G>A	c.(607-609)Ggg>Agg	p.G203R	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.G203R	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	203					protein folding		heat shock protein binding|unfolded protein binding	p.G203W(2)		kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CGCTCCTGCCCGTTCTCCACG	0.612000														97			43		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20490535	20490535	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:20490535G>A	uc001ytf.1	+	3		c.515G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TGTTGGTAGTGGATCCAAAGG	0.428000														264			37		0	0	1	0	0
PRMT3	10196	broad.mit.edu	37	11	20483679	20483679	+	Missense_Mutation	SNP	C	T	T	rs142036289		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:20483679C>T	uc001mqb.3	+	11	1443	c.1226C>T	c.(1225-1227)cCg>cTg	p.P409L	PRMT3_uc001mqc.3_Missense_Mutation_p.P332L|PRMT3_uc010rdn.2_Missense_Mutation_p.P347L	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	409							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GTTTTAGATCCGAAGACTCTT	0.348000														174			69		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16032908	16032908	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16032908C>T	uc002nbu.2	-	8	1090	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	CYP4F11_uc010eab.1_Missense_Mutation_p.E352K|CYP4F11_uc002nbt.2_Missense_Mutation_p.E352K	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	352					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CGGCACTGTTCCTGGTATTCT	0.522000														52			30		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72346770	72346770	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:72346770C>T	uc002llw.2	+	0	3848	c.3795C>T	c.(3793-3795)ctC>ctT	p.L1265L	ZNF407_uc010xfc.2_Silent_p.L1265L|ZNF407_uc010dqu.2_Silent_p.L1265L|ZNF407_uc002llu.2_Silent_p.L1264L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCCCTGTGCTCGTTGTGACAA	0.567000														29			10		0	0	1	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61908562	61908562	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61908562C>T	uc002yem.3	+	4	460	c.348C>T	c.(346-348)gtC>gtT	p.V116V	ARFGAP1_uc011aas.1_Silent_p.V63V|ARFGAP1_uc011aat.1_Intron|ARFGAP1_uc002yel.3_Silent_p.V116V|ARFGAP1_uc002yen.3_Silent_p.V116V	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA.	116	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	Golgi-associated vesicle membrane|cytosol	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GTCAGGTGGTCGCTCTGGCCG	0.667000														21			10		0	0	1	0	0
HSF2BP	11077	broad.mit.edu	37	21	45012194	45012194	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45012194G>A	uc002zdi.3	-	7	1040	c.708C>T	c.(706-708)tcC>tcT	p.S236S	HSF2BP_uc011aey.2_Silent_p.S161S	NM_007031	NP_008962	O75031	HSF2B_HUMAN	Homo sapiens heat shock transcription factor 2 binding protein (HSF2BP), mRNA.	236					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CATTGTATAGGGACATCAGCA	0.418000														56			21		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80750645	80750645	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:80750645C>T	uc001szd.3	+	47	5949	c.5943C>T	c.(5941-5943)ttC>ttT	p.F1981F	OTOGL_uc021rba.1_5'UTR|OTOGL_uc009zsg.2_5'UTR	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AAGATCAATTCATGATTCAAG	0.348000														24			15		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94353077	94353077	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:94353077G>A	uc003kkx.2	-	1	832	c.832C>T	c.(832-834)Cga>Tga	p.R278*	MCTP1_uc003kkv.2_Nonsense_Mutation_p.R57*|MCTP1_uc003kkw.2_Nonsense_Mutation_p.R57*|MCTP1_uc003kkz.2_Intron	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	278	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTACCTCCTCGATCTCGAGCA	0.413000														124			60		0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91292892	91292892	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:91292892C>T	uc002bpr.3	+	2	491	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	BLM_uc010uqh.2_Missense_Mutation_p.R132W|BLM_uc010uqi.2_5'UTR|BLM_uc010bnx.3_Missense_Mutation_p.R132W	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	132					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AAAGAAATCCCGGGATACTGC	0.388000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					90			13		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220501453	220501453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220501453C>T	uc002vmo.4	+	15	2682	c.2473C>T	c.(2473-2475)Ctc>Ttc	p.L825F	SLC4A3_uc002vmp.4_Missense_Mutation_p.L798F|SLC4A3_uc010fwm.3_Missense_Mutation_p.L348F|SLC4A3_uc010fwn.1_Missense_Mutation_p.L307F	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	798	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGGTTGGTCTCTGGCTGGT	0.622000														87			38		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237791147	237791148	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:237791147_237791148GG>AA	uc001hyl.1	+	40	6327_6328	c.6207_6208GG>AA	c.(6205-6210)tgggct>tgAAct	p.2069_2070WA>*T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2069	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)			TGGTCCGATGGGCTCAGGAGTC	0.495000														25			6		0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64421078	64421078	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:64421078C>T	uc003pep.1	+	13	3842	c.3817C>T	c.(3817-3819)Cgc>Tgc	p.R1273C	PHF3_uc003pen.2_Missense_Mutation_p.R1185C|PHF3_uc011dxs.1_Missense_Mutation_p.R542C	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1273					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTGTGTGGTTCGCTTCACACC	0.323000														31			10		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76900393	76900393	+	Missense_Mutation	SNP	G	A	A	rs111033214		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:76900393G>A	uc001oyb.2	+	27	3780	c.3508G>A	c.(3508-3510)Gag>Aag	p.E1170K	MYO7A_uc010rsm.1_Missense_Mutation_p.E1159K|MYO7A_uc001oyc.2_Missense_Mutation_p.E1170K|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.E381K	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1170	MyTH4 1.		E -> K (in USH1B).		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	p.E1170D(1)		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						GCCCAGGGACGAGATCTACTG	0.642000														49			7		0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661207	4661207	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4661207C>T	uc010qyk.2	+	0	263	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCATCATTCGTGTGGAGAG	0.542000														72			12		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098412	144098412	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:144098412C>T	uc022aoj.1	-	3	571	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	191					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					ATCTTCACCTCTCCCACTGGG	0.607000														12			9		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29562639	29562639	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:29562639C>T	uc002hgg.3	+	27	4102	c.3719C>T	c.(3718-3720)gCt>gTt	p.A1240V	NF1_uc002hgh.3_Missense_Mutation_p.A1240V|NF1_uc010csn.2_Missense_Mutation_p.A1100V|NF1_uc002hgi.1_Missense_Mutation_p.A273V	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1240	Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATGAACTAGCTCGAGTTCTG	0.383000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				205			17		0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68445979	68445979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:68445979C>T	uc002aqz.3	+	6	973	c.880C>T	c.(880-882)Ctt>Ttt	p.L294F	PIAS1_uc010ujx.2_Missense_Mutation_p.L294F	NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	294					JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AACAGTTCTTCTTCAGAGGTT	0.323000														41			29		0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141204	114141204	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:114141204C>T	uc004epu.1	+	5	1331	c.603C>T	c.(601-603)ttC>ttT	p.F201F	HTR2C_uc010nqc.1_Silent_p.F201F|HTR2C_uc004epv.1_Missense_Mutation_p.R170C	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	201					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	AAAAGGTGTTCGTGAACAACA	0.448000														53			70		0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750470	79750470	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:79750470C>T	uc002bew.1	+	1	2056	c.1981C>T	c.(1981-1983)Ccc>Tcc	p.P661S	KIAA1024_uc010unk.1_Missense_Mutation_p.P661S	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	661						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CAGTGCCTCTCCCCGGATGTT	0.527000														132			108		0	0	1	0	0
TMEM44	93109	broad.mit.edu	37	3	194343970	194343970	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:194343970G>A	uc010hzn.3	-	4	801	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S	TMEM44_uc003fuf.3_Missense_Mutation_p.P199S|TMEM44_uc003fue.3_Missense_Mutation_p.P199S|TMEM44_uc011bsv.2_Missense_Mutation_p.P199S|TMEM44_uc003fuh.1_Non-coding_Transcript	NM_001166305	NP_001159777	Q2T9K0	TMM44_HUMAN	Homo sapiens transmembrane protein 44 (TMEM44), transcript variant 3, mRNA.	199						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		GAGAGAGGGGGGATCCGAGAA	0.592000														11			7		0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162875326	162875326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:162875326G>A	uc002ubz.3	-	15	1894	c.1333C>T	c.(1333-1335)Ctc>Ttc	p.L445F	DPP4_uc010fpb.3_Missense_Mutation_p.L121F	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	445					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TCACAACTGAGGCATGTCACT	0.403000														83			32		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77415293	77415293	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77415293C>T	uc004ajl.1	-	16	2353	c.2115G>A	c.(2113-2115)tcG>tcA	p.S705S	TRPM6_uc004ajk.1_Silent_p.S700S|TRPM6_uc022bib.1_Silent_p.S700S|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	705					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TAAGGCAGGTCGAATTGCTCC	0.512000														59			20		0	0	1	0	0
PEF1	553115	broad.mit.edu	37	1	32101117	32101117	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32101117G>A	uc001bth.2	-	1	404	c.31C>T	c.(31-33)Cca>Tca	p.P11S	PEF1_uc021okp.1_5'UTR|PEF1_uc021okq.1_Intron|PEF1_uc001bte.1_5'Flank|PEF1_uc010ogm.2_Missense_Mutation_p.P11S	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN	Homo sapiens penta-EF-hand domain containing 1 (PEF1), transcript variant 1, mRNA.	11					response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		GCAGCTCCTGGGCAGCCCTGC	0.567000														17			8		0	0	1	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021316	142021316	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142021316C>T	uc011krr.1	+	1	481	c.296C>T	c.(295-297)aCc>aTc	p.T99I	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Missense_Mutation_p.T99I					SubName: Full=V_segment translation product; Flags: Fragment;																		AATGTGAGCACCTTGGAGCTG	0.522000														71			14		0	0	1	0	0
MRPL49	740	broad.mit.edu	37	11	64893018	64893018	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64893018C>T	uc001oda.2	+	2	391	c.288C>T	c.(286-288)gtC>gtT	p.V96V	MRPL49_uc021qle.1_Non-coding_Transcript|MRPL49_uc021qlf.1_Silent_p.V34V	NM_004927	NP_004918	Q13405	RM49_HUMAN	Homo sapiens mitochondrial ribosomal protein L49 (MRPL49), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	96					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	p.V96I(1)		endometrium(1)|ovary(1)	2						ACATCCCCGTCTACAAGGACA	0.552000														82			23		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72297607	72297607	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72297607G>A	uc001jrd.4	+	10	1549	c.1268G>A	c.(1267-1269)tGg>tAg	p.W423*	KIAA1274_uc001jre.4_5'Flank	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	423										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						AGGGCGCTGTGGAGCCTGGAG	0.607000														76			20		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93979219	93979219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:93979219C>T	uc003poe.3	-	6	1850	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	EPHA7_uc003pof.3_Missense_Mutation_p.E537K|EPHA7_uc011eac.2_Missense_Mutation_p.E537K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	537						integral to plasma membrane	ATP binding|ephrin receptor activity	p.E537K(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCTGTAGCTTCCTCTAGTGTA	0.363000														59			34		0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	170008397	170008397	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:170008397G>A	uc001ggv.3	-	3	623	c.352C>T	c.(352-354)Cca>Tca	p.P118S	KIFAP3_uc021pep.1_Missense_Mutation_p.P78S|KIFAP3_uc010ply.2_Missense_Mutation_p.P40S|KIFAP3_uc001ggw.2_Missense_Mutation_p.P74S	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN	Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.	118					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAAGGAGGTGGATCTTTAGGC	0.313000														22			12		0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4073527	4073527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:4073527C>T	uc003mvx.3	-	5	690	c.284G>A	c.(283-285)gGa>gAa	p.G95E	FAM217A_uc010jnq.1_Non-coding_Transcript|FAM217A_uc003mvy.3_Missense_Mutation_p.G32E	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.	95																	TATGGTACTTCCTTCATTAAG	0.299000														106			8		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32041710	32041710	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32041710G>A	uc003nzl.2	-	11	4597	c.4395C>T	c.(4393-4395)acC>acT	p.T1465T		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1552	Fibronectin type-III 7.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGCTGGAGGGGTCTCTTCTT	0.522000														13			9		0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62376529	62376529	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62376529G>A	uc010rly.1	-	6	1142	c.834C>T	c.(832-834)gcC>gcT	p.A278A	EML3_uc001ntr.1_Silent_p.A250A|EML3_uc001nts.1_Silent_p.A250A|EML3_uc001ntt.1_Silent_p.A162A|EML3_uc001ntu.1_Silent_p.A278A|EML3_uc009yny.1_Silent_p.A61A			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	278						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCACCACACAGGCGATAAAGT	0.607000														185			70		0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6966849	6966849	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6966849C>T	uc001qri.4	+	6	885	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L	USP5_uc001qrh.4_Silent_p.L276L	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	276					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GGCTGAGCACCTGTCCCACTT	0.547000														98			43		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68643118	68643118	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:68643118G>A	uc010bib.3	-	8	984	c.897C>T	c.(895-897)gtC>gtT	p.V299V	ITGA11_uc002ari.3_Silent_p.V299V	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	299	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AGTAGCCCAGGACCTGCCAGG	0.527000														71			49		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834305	101834305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:101834305C>T	uc003knn.3	-	0	416	c.244G>A	c.(244-246)Gat>Aat	p.D82N	SLCO6A1_uc003kno.3_Missense_Mutation_p.D82N|SLCO6A1_uc003knp.3_Missense_Mutation_p.D82N|SLCO6A1_uc003knq.3_Missense_Mutation_p.D82N	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	82						integral to membrane|plasma membrane	transporter activity	p.D82H(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAACTGTCATCCACTTCTCCC	0.493000														114			53		0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25014056	25014056	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:25014056C>T	uc003grf.2	-	6	820	c.721G>A	c.(721-723)Gat>Aat	p.D241N		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	241						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				ACGTACACATCGTTCTTGGAG	0.468000														84			26		0	0	1	0	0
GPR21	2844	broad.mit.edu	37	9	125797634	125797634	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125797634C>T	uc011lzk.2	+	0	789	c.789C>T	c.(787-789)atC>atT	p.I263I	RABGAP1_uc004bnl.4_Intron|RABGAP1_uc011lzh.2_Intron|RABGAP1_uc011lzj.2_Intron|GPR21_uc011lzi.2_Non-coding_Transcript	NM_005294	NP_005285	Q99679	GPR21_HUMAN	Homo sapiens G protein-coupled receptor 21 (GPR21), mRNA.	263						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						TATTTTACATCCTCTGGTTGC	0.507000														160			10		0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30671904	30671904	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:30671904G>A	uc003tbm.3	+	15	2302	c.1945G>A	c.(1945-1947)Gat>Aat	p.D649N		NM_002047	NP_002038	P41250	SYG_HUMAN	Homo sapiens glycyl-tRNA synthetase (GARS), mRNA.	649					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CAAAGTAGACGATTCCTCTGG	0.448000														72			26		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40713344	40713344	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:40713344C>T	uc002xkg.3	-	28	4298	c.4114G>A	c.(4114-4116)Gga>Aga	p.G1372R	PTPRT_uc010ggj.3_Missense_Mutation_p.G1391R|PTPRT_uc010ggi.3_Missense_Mutation_p.G575R	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1372	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACAGTACGTCCCTCCCTCCCG	0.607000														31			8		0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139113755	139113755	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139113755G>A	uc010nbi.2	-	5	746	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.	236					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GGGTCACCACGATGCTTTCAT	0.512000														74			27		0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52999086	52999086	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:52999086C>T	uc003pbp.3	-	2	321	c.112G>A	c.(112-114)Gat>Aat	p.D38N	GCM1_uc010jzr.2_Missense_Mutation_p.D38N	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	38						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GCATAGGAATCTGGCCACTCC	0.493000														107			9		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43606197	43606198	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:43606197_43606198GG>AA	uc003bdt.2	-	18	2559_2560	c.2432_2433CC>TT	c.(2431-2433)tcc>tTT	p.S811F		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	811	CUB.				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GGTAGTTGGGGGACTCGATGTA	0.653000														34			15		0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85992447	85992447	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:85992447C>T	uc001kcz.1	-	3	1130	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	370						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCAGCAGCTTCCCCTCCGCCA	0.577000														16			6		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66460536	66460536	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:66460536C>T	uc021xzk.1	+	28	5837	c.5529C>T	c.(5527-5529)ctC>ctT	p.L1843L	MAST4_uc003jut.2_Silent_p.L1654L|MAST4_uc003juw.3_Silent_p.L1582L|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1846						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CACCAGTTCTCCCCAGCAGCA	0.557000														53			21		0	0	1	0	0
PPM1M	132160	broad.mit.edu	37	3	52283280	52283280	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52283280G>A	uc011bed.2	+	8	1209	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	PPM1M_uc003ddf.4_Missense_Mutation_p.E232K|PPM1M_uc003ddg.4_Missense_Mutation_p.E181K|PPM1M_uc003ddh.4_Missense_Mutation_p.E103K	NM_144641	NP_653242	Q96MI6	PPM1M_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1M (PPM1M), transcript variant 1, mRNA.	232					protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		ACTGTCCAACGAGCAGGTGGC	0.577000														22			5		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169696610	169696610	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169696610C>T	uc001ggm.4	-	9	1682	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	509	Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AACACGGGCTCCCCACTGCAG	0.522000														47			16		0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29365268	29365268	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29365268G>A	uc003nmf.4	+	0	853	c.792G>A	c.(790-792)gaG>gaA	p.E264E		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E264D(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CTGCGTTAGAGAGCTTCATGG	0.458000														163			70		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347331	89347331	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89347331G>A	uc002fmx.1	-	8	6080	c.5619C>T	c.(5617-5619)gtC>gtT	p.V1873V	ANKRD11_uc002fmy.1_Silent_p.V1873V|ANKRD11_uc002fnc.1_Silent_p.V1873V|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.V1830V	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1873	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGGTGACAGTGACAACGGCAG	0.612000														60			21		0	0	1	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198492560	198492560	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:198492560C>T	uc009wzd.3	-	3	371	c.336G>A	c.(334-336)atG>atA	p.M112I	ATP6V1G3_uc001gup.3_Missense_Mutation_p.M106I|ATP6V1G3_uc001guo.3_3'UTR	NM_133262	NP_573569	Q96LB4	VATG3_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 (ATP6V1G3), transcript variant 1, mRNA.	106					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TTTCTGGTTTCATGTCACAGA	0.398000														30			8		0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206225182	206225182	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:206225182G>A	uc001hds.2	+	0	900	c.742G>A	c.(742-744)Gac>Aac	p.D248N		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	248					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GAGGACTTGGGACAGGCCCTC	0.592000														84			35		0	0	1	0	0
TIFAB	497189	broad.mit.edu	37	5	134785187	134785187	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:134785187C>T	uc003law.4	-	1	644	c.443G>A	c.(442-444)tGg>tAg	p.W148*	C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Nonsense_Mutation_p.W148*	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.	148								p.E147Q(1)		breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATGCCTTCCCATTCGTCAGT	0.582000														75			32		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176787	140176787	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140176787G>A	uc003lhd.2	+	0	2344	c.2238G>A	c.(2236-2238)ggG>ggA	p.G746G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.G746G|PCDHAC2_uc011czy.2_Silent_p.G746G	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	783					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)			GCGCCGTGGGGAGCTGGTCTT	0.672000														67			35		0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157771398	157771398	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:157771398C>T	uc003iph.2	-	1	780	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	PDGFC_uc003ipi.2_5'UTR|PDGFC_uc011cis.2_Intron|PDGFC_uc011cir.2_5'UTR	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	97	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TCTGGGTCTTCAAGCCCAAAT	0.348000														57			19		0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183191281	183191281	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:183191281C>T	uc001gqa.2	+	5	1012	c.698C>T	c.(697-699)tCa>tTa	p.S233L	LAMC2_uc001gpz.4_Missense_Mutation_p.S233L|LAMC2_uc010poa.2_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	233	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						CTCCAATGGTCACAGCGCCAT	0.488000														115			34		0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31654358	31654358	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31654358G>A	uc003akh.3	+	2	343	c.198G>A	c.(196-198)ggG>ggA	p.G66G	LIMK2_uc003aki.3_Intron|LIMK2_uc003akj.3_Silent_p.G45G|LIMK2_uc003akk.3_Silent_p.G45G|LIMK2_uc011aln.2_5'UTR	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	66						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						ACTACTGGGGGAAGTTTGGGG	0.512000														56			41		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119097170	119097170	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:119097170C>T	uc004bjn.3	+	12	3809	c.3428C>T	c.(3427-3429)cCc>cTc	p.P1143L	PAPPA_uc011lxp.1_Missense_Mutation_p.P838L|PAPPA_uc011lxq.2_Missense_Mutation_p.P518L	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1143					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						AGGAACAATCCCCTGATTATC	0.632000														52			12		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120373013	120373013	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:120373013C>T	uc003vjj.1	+	1	2137	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	391					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.S391S(1)		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)					TCTATCTGTTCGCTGAGTGGG	0.418000														74			25		0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64335111	64335111	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64335111C>T	uc001oai.3	+	6	1473	c.1099C>T	c.(1099-1101)Ctg>Ttg	p.L367L	SLC22A11_uc009ypq.3_Intron	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	367					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	GGTCTTCGACCTGCAGAGCCT	0.632000														133			62		0	0	1	0	0
FKBP2	2286	broad.mit.edu	37	11	64010707	64010708	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64010707_64010708CT>TC	uc001nyy.3	+	2	404_405	c.208_209CT>TC	c.(208-210)ctg>TCg	p.L70S	FKBP2_uc010rnh.2_Missense_Mutation_p.L70S|FKBP2_uc001nyz.3_Missense_Mutation_p.L70S	NM_004470	NP_476433	P26885	FKBP2_HUMAN	Homo sapiens FK506 binding protein 2, 13kDa (FKBP2), transcript variant 1, mRNA.	70	PPIase FKBP-type.				protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(2)|lung(3)	5						TGACAGCAGCCTGCCCCAGAAC	0.619000														56			7		0	0	1	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14950960	14950960	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:14950960G>A	uc001inn.3	-	13	1611	c.1526C>T	c.(1525-1527)tCc>tTc	p.S509F	DCLRE1C_uc010qbx.2_Intron|DCLRE1C_uc001ink.3_Missense_Mutation_p.S162F|DCLRE1C_uc001inl.3_Missense_Mutation_p.S389F|DCLRE1C_uc001inr.3_Missense_Mutation_p.S394F|DCLRE1C_uc009xji.3_Missense_Mutation_p.S394F|DCLRE1C_uc001inm.3_Missense_Mutation_p.S389F|DCLRE1C_uc001ino.3_Missense_Mutation_p.S394F|DCLRE1C_uc009xjh.3_Non-coding_Transcript|DCLRE1C_uc001inp.3_Missense_Mutation_p.S389F|DCLRE1C_uc001inq.3_Missense_Mutation_p.S389F|DCLRE1C_uc021pni.1_Missense_Mutation_p.S394F	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	Homo sapiens DNA cross-link repair 1C (DCLRE1C), transcript variant a, mRNA.	509					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CACTGTGGAGGAAGGGAAGTT	0.458000								Non-homologous end-joining						36			13		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57333046	57333046	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57333046G>A	uc002qnu.2	-	3	993	c.642C>T	c.(640-642)gaC>gaT	p.D214D	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Silent_p.D89D|PEG3_uc010etp.2_Silent_p.D89D|PEG3_uc010ygs.1_Silent_p.D89D|PEG3_uc002qnq.2_Silent_p.D89D|PEG3_uc002qnt.2_Silent_p.D215D|PEG3_uc002qnv.2_Silent_p.D214D|PEG3_uc002qnw.2_Silent_p.D89D|PEG3_uc002qnx.2_Silent_p.D88D|PEG3_uc010etr.2_Silent_p.D214D	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	214					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R213M(1)|p.R213R(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAGCCCTGGAGTCCCTGTCGT	0.507000														148			64		0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203621974	203621974	+	Silent	SNP	C	T	T	rs140222767		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:203621974C>T	uc010zhx.2	+	5	1153	c.1143C>T	c.(1141-1143)ccC>ccT	p.P381P		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	381										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CTCCACCCCCCCTTGTACAGA	0.493000														45			18		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349594	100349594	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100349594C>T	uc003uwj.3	+	13	2031	c.1866C>T	c.(1864-1866)ccC>ccT	p.P622P	ZAN_uc003uwk.3_Silent_p.P622P|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	622	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACCATTCCCTCAGAAAAAC	0.473000														90			44		0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49685891	49685891	+	Silent	SNP	C	T	T	rs145772095		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49685891C>T	uc002pmw.3	+	10	1428	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F	TRPM4_uc010emu.3_Silent_p.F440F|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Silent_p.F266F|TRPM4_uc010emv.3_Silent_p.F325F|TRPM4_uc010yal.2_Silent_p.F86F|TRPM4_uc002pmy.3_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	440					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGCCTGAGTTCGTGCGCTTGC	0.607000														71			7		0	0	1	0	0
TBK1	29110	broad.mit.edu	37	12	64854024	64854024	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:64854024C>T	uc001ssc.2	+	2	302	c.143C>T	c.(142-144)cCa>cTa	p.P48L		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	Homo sapiens TANK-binding kinase 1 (TBK1), mRNA.	48	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TTCCTTCGTCCAGTGGATGTT	0.269000														62			32		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031217	33031217	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:33031217G>A	uc001rlj.4	-	2	712	c.597C>T	c.(595-597)atC>atT	p.I199I	PKP2_uc001rlk.4_Silent_p.I199I|PKP2_uc010skj.2_Silent_p.I199I	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	199					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.I199I(2)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGACCCCCACGATCTCGGAAC	0.597000														53			18		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106478215	106478215	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106478215G>A	uc021ser.1	-	2451		c.42858C>T								Parts of antibodies, mostly variable regions.																		GACTCTTGAGGGAGGGGTTGT	0.572000														98			11		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32800019	32800019	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:32800019C>T	uc001utx.3	+	38	5610	c.5114C>T	c.(5113-5115)tCc>tTc	p.S1705F	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AATTTCCATTCCATTGCTTCC	0.483000														90			47		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66947101	66947101	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:66947101C>T	uc002eql.3	-	8	1181	c.987G>A	c.(985-987)gaG>gaA	p.E329E	CDH16_uc010cdy.3_Silent_p.E329E|CDH16_uc021tjx.1_Silent_p.E329E|CDH16_uc002eqm.3_Silent_p.E232E	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	329	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CGTTGTCATTCTCATCCATCA	0.612000														136			14		0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24653942	24653942	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24653942G>A	uc001wmv.1	-	15	2571	c.1550C>T	c.(1549-1551)cCc>cTc	p.P517L	IPO4_uc001wmt.1_5'UTR|IPO4_uc001wmu.2_Missense_Mutation_p.P179L|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Missense_Mutation_p.P381L|IPO4_uc001wmy.1_Missense_Mutation_p.P381L|IPO4_uc001wmz.2_Missense_Mutation_p.P517L	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	517					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AGGGAAGTAGGGCAGCAGCGA	0.612000														18			11		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739693	62739693	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62739693C>T	uc001dah.4	-	2	1460	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	361										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTGCCAGTTCCTCGGTTCTTC	0.567000														103			25		0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107646739	107646739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107646739G>A	uc004bcl.3	-	3	675	c.271C>T	c.(271-273)Ccc>Tcc	p.P91S	ABCA1_uc004bcm.3_Missense_Mutation_p.P31S	NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	91					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACAACTCCGGGAGCCTCCCCA	0.453000														61			18		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98592348	98592348	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:98592348C>T	uc003upp.3	+	65	10353	c.10144C>T	c.(10144-10146)Ctg>Ttg	p.L3382L	TRRAP_uc011kis.2_Silent_p.L3353L|TRRAP_uc003upr.3_Silent_p.L3088L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3382					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGGGTGGGCCTGGAGAATGT	0.567000														192			86		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451141	155451141	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:155451141G>A	uc003qqb.3	+	5	2057	c.784G>A	c.(784-786)Gag>Aag	p.E262K	TIAM2_uc003qqe.3_Missense_Mutation_p.E262K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	262					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGAGCTGAGCGAGGCTGAGGG	0.617000														41			34		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2705044	2705044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2705044C>T	uc009zdu.1	+	19	2981	c.2668C>T	c.(2668-2670)Cgc>Tgc	p.R890C	CACNA1C_uc001qkc.2_Missense_Mutation_p.R890C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R890C|CACNA1C_uc001qke.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R890C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R890C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkj.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkk.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkm.2_Missense_Mutation_p.R890C|CACNA1C_uc001qko.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R890C|CACNA1C_uc001qku.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R890C|CACNA1C_uc001qks.2_Missense_Mutation_p.R890C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R890C|CACNA1C_uc009zdv.1_Missense_Mutation_p.R887C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R890C|CACNA1C_uc001qka.1_Missense_Mutation_p.R425C|CACNA1C_uc001qki.1_Missense_Mutation_p.R626C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	890					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTACAGGTTTCGCCTCCAGTG	0.582000														80			34		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110451248	110451248	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:110451248G>A	uc001pkz.1	-	15	2707	c.2422C>T	c.(2422-2424)Cct>Tct	p.P808S	ARHGAP20_uc001pky.1_Missense_Mutation_p.P785S|ARHGAP20_uc009yyb.1_Missense_Mutation_p.P772S|ARHGAP20_uc001pla.1_Missense_Mutation_p.P772S|ARHGAP20_uc001plb.2_Missense_Mutation_p.P351S	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	808					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GAGGACATAGGACTATAAGAT	0.458000														106			44		0	0	1	0	0
PTGIR	5739	broad.mit.edu	37	19	47124807	47124807	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:47124807C>T	uc002pex.3	-	2	1004	c.891G>A	c.(889-891)aaG>aaA	p.K297K		NM_000960	NP_000951	P43119	PI2R_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) receptor (IP) (PTGIR), mRNA.	297					G-protein signaling, coupled to cyclic nucleotide second messenger|cell-cell signaling|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GGAAGACAGCCTTGCGGAAAA	0.632000														81			7		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207785317	207785317	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207785317C>T	uc001hfy.3	+	30	5296	c.5156C>T	c.(5155-5157)cCt>cTt	p.P1719L	CR1_uc001hfx.3_Missense_Mutation_p.P2169L|CR1_uc021pij.1_Missense_Mutation_p.P1719L	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1719	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.P2169L(1)|p.P1724L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGCCAACTCCCTCATGGCCGT	0.483000														408			30		0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380486	56380486	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56380486G>A	uc001nja.1	-	0	493	c.493C>T	c.(493-495)Cac>Tac	p.H165Y	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	165					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						AAGGATAAGTGAAAGGTTAGC	0.463000														48			15		0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25223432	25223432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:25223432C>T	uc021sgb.1	+	6	1703	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	SNRPN_uc001ywp.1_Missense_Mutation_p.P218S|SNRPN_uc001ywq.1_Missense_Mutation_p.P218S|SNRPN_uc001ywr.1_Missense_Mutation_p.P218S|SNRPN_uc001yws.1_Missense_Mutation_p.P218S|SNRPN_uc001ywt.1_Missense_Mutation_p.P218S|SNRPN_uc001ywy.1_Missense_Mutation_p.P218S|SNRPN_uc001ywz.1_Non-coding_Transcript|SNRPN_uc001yxa.1_Intron|SNRPN_uc021sga.1_Missense_Mutation_p.P218S	NM_022808	NP_073719	P63162	RSMN_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 5, mRNA.	218	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CATGCCGCCTCCGGGAATGAG	0.572000									Prader-Willi syndrome					150			47		0	0	1	0	0
TCTN1	79600	broad.mit.edu	37	12	111057732	111057732	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:111057732C>T	uc001trn.4	+	1	468	c.312C>T	c.(310-312)gtC>gtT	p.V104V	TCTN1_uc010syb.2_Silent_p.V104V|TCTN1_uc010syc.2_Non-coding_Transcript|TCTN1_uc009zvs.3_Silent_p.V104V|TCTN1_uc001trm.3_Silent_p.V44V|TCTN1_uc001trp.4_Silent_p.V104V|TCTN1_uc001tri.3_Silent_p.V48V|TCTN1_uc001trj.2_Silent_p.V48V|TCTN1_uc001trk.4_Non-coding_Transcript	NM_001082538	NP_001076007	Q2MV58	TECT1_HUMAN	Homo sapiens tectonic family member 1 (TCTN1), transcript variant 1, mRNA.	104					multicellular organismal development	extracellular region		p.S103I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						ATTTCAGTGTCTTTTCTGCCT	0.438000														113			38		0	0	1	0	0
SLC45A2	51151	broad.mit.edu	37	5	33964098	33964098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:33964098G>A	uc003jid.3	-	2	678	c.586C>T	c.(586-588)Ctt>Ttt	p.L196F	SLC45A2_uc003jie.3_Missense_Mutation_p.L196F|SLC45A2_uc003jif.4_Intron|SLC45A2_uc011coe.1_Intron	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA.	196					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GCACCCAAAAGGTAACCCAGG	0.458000														28			8		0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8221758	8221758	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:8221758G>A	uc002glc.3	+	9	1913	c.1758G>A	c.(1756-1758)aaG>aaA	p.K586K	ARHGEF15_uc002gld.3_Silent_p.K586K|ARHGEF15_uc010vuw.2_Silent_p.K475K	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	586	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						ATGCCCAGAAGGCCCTGGGTG	0.632000														48			45		0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271300	59271300	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59271300C>T	uc001noa.1	+	0	252	c.252C>T	c.(250-252)gaC>gaT	p.D84D		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TCTTGCTGGACCTTCTGTCAA	0.478000														241			92		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325048	57325048	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57325048C>T	uc002qnu.2	-	6	5113	c.4762G>A	c.(4762-4764)Ggc>Agc	p.G1588S	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1559S|PEG3_uc002qnv.2_Missense_Mutation_p.G1588S|PEG3_uc002qnw.2_Missense_Mutation_p.G1464S|PEG3_uc002qnx.2_Missense_Mutation_p.G1462S|PEG3_uc010etr.2_Missense_Mutation_p.G1588S|PEG3-AS1_uc010ets.2_Non-coding_Transcript	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1588					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGCCCTCAGCCAGTGTGGGTA	0.493000														41			10		0	0	1	0	0
WDR86	349136	broad.mit.edu	37	7	151097249	151097249	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:151097249C>T	uc011kvk.1	-	1	691	c.242G>A	c.(241-243)aGg>aAg	p.R81K	WDR86_uc003wka.2_Missense_Mutation_p.R39K|WDR86_uc003wkb.2_Missense_Mutation_p.R81K|WDR86_uc003wkc.2_5'UTR			Q86TI4	WDR86_HUMAN	Homo sapiens WD repeat domain 86 (WDR86), mRNA.	81										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACGTCCCACCTCCTGATGGT	0.607000														15			6		0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6094294	6094294	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:6094294G>A	uc003spp.3	-	1	306	c.160C>T	c.(160-162)Cta>Tta	p.L54L	EIF2AK1_uc003spq.3_Silent_p.L54L|EIF2AK1_uc011jwm.1_5'UTR	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 1 (EIF2AK1), transcript variant 1, mRNA.	54					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GGCTGTTGTAGGGGTTCTTTT	0.393000														140			42		0	0	1	0	0
GFOD2	81577	broad.mit.edu	37	16	67709604	67709604	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67709604G>A	uc002eub.3	-	2	907	c.612C>T	c.(610-612)ttC>ttT	p.F204F	GFOD2_uc002euc.3_Silent_p.F99F|GFOD2_uc002eua.1_Non-coding_Transcript	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 2 (GFOD2), transcript variant 1, mRNA.	204						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TCTGCCTCACGAATGTCTTGA	0.612000														72			7		0	0	1	0	0
CRY1	1407	broad.mit.edu	37	12	107393622	107393622	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:107393622G>A	uc001tmi.3	-	6	1703	c.844C>T	c.(844-846)Cct>Tct	p.P282S		NM_004075	NP_004066	Q16526	CRY1_HUMAN	Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.	282	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA photolyase activity|blue light photoreceptor activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						GAAAGGGGAGGGGAACTGTTC	0.333000														49			25		0	0	1	0	0
ZDHHC3	51304	broad.mit.edu	37	3	44974644	44974644	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:44974644G>A	uc003cod.3	-	4	850	c.576C>T	c.(574-576)ttC>ttT	p.F192F	ZDHHC3_uc003cog.3_Silent_p.F192F|ZDHHC3_uc021wws.1_Silent_p.F40F	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN	Homo sapiens zinc finger, DHHC-type containing 3 (ZDHHC3), transcript variant 2, mRNA.	192						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GCAGGAAGTGGAATCCCACCA	0.522000														71			19		0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47117396	47117396	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:47117396C>T	uc002iom.3	+	6	1095	c.761C>T	c.(760-762)tCc>tTc	p.S254F	IGF2BP1_uc010dbj.3_Intron	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	254	KH 1.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GAGGGCTGCTCCTCCGCTTGT	0.517000														67			56		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152536101	152536101	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:152536101C>T	uc021zhb.1	-	119	22509	c.22286G>A	c.(22285-22287)aGa>aAa	p.R7429K	SYNE1_uc003qos.4_Missense_Mutation_p.R1953K|SYNE1_uc003qot.4_Missense_Mutation_p.R7358K|SYNE1_uc003qou.4_Missense_Mutation_p.R7429K|SYNE1_uc003qor.4_Missense_Mutation_p.R329K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7429					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTCTGCATTCTTTTGATTTC	0.413000										HNSCC(10;0.0054)				80			66		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117403124	117403125	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:117403124_117403125GG>AA	uc001prh.1	-	3	806_807	c.804_805CC>TT	c.(802-807)acccgg>acTTgg	p.R269W	DSCAML1_uc001pri.1_Missense_Mutation_p.R73W	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	209	Ig-like C2-type 3.				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	p.T268I(1)		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)		TTGCTCTGCCGGGTCTCCCCGC	0.614000														75			9		0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110714215	110714215	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:110714215G>A	uc003puc.3	-	4	877	c.873C>T	c.(871-873)ccC>ccT	p.P291P	METTL24_uc003pub.2_Intron|DDO_uc003pud.3_Silent_p.P232P	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	263					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CGTGGAGGGAGGGCTCCAGAG	0.572000														102			57		0	0	1	0	0
DDX58	23586	broad.mit.edu	37	9	32500834	32500834	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:32500834G>A	uc003zra.3	-	1	368	c.210C>T	c.(208-210)ttC>ttT	p.F70F	DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mjk.1_Intron|DDX58_uc011lnr.1_5'UTR|DDX58_uc010mji.3_5'UTR	NM_014314	NP_055129	O95786	DDX58_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.	70	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		AAAAGCCACGGAACCAGCCTT	0.443000														74			43		0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160905242	160905242	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:160905242G>A	uc003qtj.2	-	5		c.886C>T			LPAL2_uc011efy.2_Non-coding_Transcript					Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GCCTTCCACAGGATCTGGATT	0.512000														43			33		0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5867474	5867474	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:5867474G>A	uc002mdo.4	-	1	434	c.263C>T	c.(262-264)cCc>cTc	p.P88L	FUT5_uc010duo.3_Missense_Mutation_p.P88L|FUT5_uc021uno.1_Missense_Mutation_p.P88L	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	88					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						CAGAGCCACGGGTGTGTTAAA	0.662000														74			9		0	0	1	0	0
KBTBD11	9920	broad.mit.edu	37	8	1950790	1950790	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:1950790G>A	uc022aqq.1	+	0	1432	c.1432G>A	c.(1432-1434)Gac>Aac	p.D478N	KBTBD11_uc003wpw.4_Missense_Mutation_p.D478N	NM_014867	NP_055682	O94819	KBTBB_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 11 (KBTBD11), mRNA.	478										lung(1)|pancreas(1)	2		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134)		CCCGCGGCGCGACGAGTGGCA	0.682000														20			5		0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30732918	30732918	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30732918C>T	uc002wxj.2	+	6	912	c.677C>T	c.(676-678)tCg>tTg	p.S226L	TM9SF4_uc010ztr.1_Missense_Mutation_p.S152L|TM9SF4_uc010zts.1_Missense_Mutation_p.S133L|TM9SF4_uc002wxk.2_Missense_Mutation_p.S209L	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	226						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGAAGAGTTCGTGCACTCTG	0.562000														52			23		0	0	1	0	0
ZNF296	162979	broad.mit.edu	37	19	45579435	45579435	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45579435G>A	uc002pao.3	-	0	254	c.197C>T	c.(196-198)cCc>cTc	p.P66L		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	Homo sapiens zinc finger protein 296 (ZNF296), mRNA.	66					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GGAGTGGTGGGGTTCGCCGCC	0.741000														17			3		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83636688	83636688	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:83636688G>A	uc003uhz.3	-	9	1436	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	374	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCGTGGATAGGGGACTCTTCC	0.423000														112			44		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539917	120539917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:120539917G>A	uc001eik.3	-	3	751	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	NOTCH2_uc001eil.3_Missense_Mutation_p.P152S|NOTCH2_uc021osy.1_Missense_Mutation_p.P113S|NOTCH2_uc001eim.4_Missense_Mutation_p.P69S	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	152	EGF-like 4.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGCACAGGGATGAGACAGG	0.498000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					131			33		0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	89998001	89998001	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:89998001G>A	uc001tbh.3	-	14	2746	c.2565C>T	c.(2563-2565)ttC>ttT	p.F855F	ATP2B1_uc001tbg.3_Silent_p.F855F|ATP2B1_uc001tbf.3_Silent_p.F525F	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	855					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GGAACTGAAGGAATTTTGAGA	0.383000														52			22		0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149073664	149073664	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:149073664C>T	uc003ilj.4	-	5	2829	c.2466G>A	c.(2464-2466)acG>acA	p.T822T	NR3C2_uc003ilk.4_Silent_p.T705T|NR3C2_uc010iph.3_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	822	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.T822T(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ATTGGCTGTTCGTATGTTTGT	0.363000														73			27		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97466366	97466366	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:97466366C>T	uc010how.1	+	16	3271	c.3228C>T	c.(3226-3228)ttC>ttT	p.F1076F	EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	981						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						AGAATAACTTCGTGGCAGCAG	0.423000														16			12		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21328024	21328024	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:21328024C>T	uc002kuq.3	+	3	651	c.565_splice	c.e3+1	p.H189_splice	LAMA3_uc010dlv.2_Splice_Site_p.H189_splice|LAMA3_uc002kur.3_Splice_Site_p.H189_splice	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	189	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.H189N(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATATTTTGCTCGTAAGTAATC	0.373000														63			27		0	0	1	0	0
ELL	8178	broad.mit.edu	37	19	18572511	18572511	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18572511G>A	uc002njh.3	-	4	693	c.621C>T	c.(619-621)ttC>ttT	p.F207F	ELL_uc010ebq.3_Silent_p.F150F|ELL_uc002njg.3_Silent_p.F74F	NM_006532	NP_006523	P55199	ELL_HUMAN	Homo sapiens elongation factor RNA polymerase II (ELL), mRNA.	207					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CTCGGTCACGGAAGGGCCTCT	0.672000			T	MLL	AL						OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			14		0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39087490	39087490	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:39087490G>A	uc001rls.1	-	14	1196	c.1112C>T	c.(1111-1113)cCa>cTa	p.P371L	CPNE8_uc001rlr.1_Missense_Mutation_p.P30L	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	371	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CCTTCCATCTGGAGGCAGTTT	0.348000														133			19		0	0	1	0	0
TREML1	340205	broad.mit.edu	37	6	41121799	41121799	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:41121799C>T	uc011duc.2	-	1	117	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	TREML1_uc003opx.3_Missense_Mutation_p.V25M|TREML1_uc011dud.2_Intron	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 1 (TREML1), mRNA.	25	Ig-like V-type.				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCTGCAGCACCTCAGGGAGG	0.612000														38			11		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233150438	233150438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233150438C>T	uc001hvl.2	-	27	5160	c.4925G>A	c.(4924-4926)gGa>gAa	p.G1642E	PCNXL2_uc001hvk.1_Missense_Mutation_p.G294E|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1642						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)				AGCGGCTGTTCCCAGAGCTCT	0.527000														61			23		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	25353	25353	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000209.1:25353G>A	uc002qts.2	+	3	100	c.71_splice	c.e3-1	p.G24_splice	KIR2DL2_uc002qtt.2_Splice_Site_p.G24_splice	NM_014219	NP_055034	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 (KIR2DL2), mRNA.	24					regulation of immune response	integral to membrane|plasma membrane	receptor activity										TCTCTTCCTAGGAGTCCACAG	0.507000														34			42		0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298516	107298516	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107298516G>A	uc004bcb.1	-	0	579	c.579C>T	c.(577-579)gcC>gcT	p.A193A		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A193S(1)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GCAGTCTCATGGCAAGTAATG	0.433000														114			53		0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35478634	35478634	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:35478634G>A	uc003anj.3	+	1	1304	c.353G>A	c.(352-354)aGg>aAg	p.R118K		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	118						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CTGGCAGCCAGGATCAACCTC	0.572000														59			17		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39871208	39871208	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39871208G>A	uc010lwy.1	+	9	1125	c.883G>A	c.(883-885)Ggc>Agc	p.G295S	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Missense_Mutation_p.G36S|IDO2_uc003xnp.1_Missense_Mutation_p.G36S	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	282					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	p.Y294C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TGAGTTCTTAGGCATTCGTCA	0.458000														42			8		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042515	74042515	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74042515C>T	uc002sjr.1	+	2	1286	c.1165C>T	c.(1165-1167)Cct>Tct	p.P389S		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	389										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCCACTACTTCCTGTAGAAAT	0.423000														49			7		0	0	1	0	0
FAM115A	9747	broad.mit.edu	37	7	143573340	143573340	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143573340G>A	uc003wdo.2	-	1	495	c.362C>T	c.(361-363)tCc>tTc	p.S121F	FAM115A_uc011ktu.2_Intron|FAM115A_uc003wdp.2_Missense_Mutation_p.S121F	NM_014719	NP_001193870	Q9Y4C2	F115A_HUMAN	Homo sapiens family with sequence similarity 115, member A (FAM115A), transcript variant 1, mRNA.	121										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					AACCCCCAGGGAGTCTTTCAC	0.522000														135			52		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61868589	61868589	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61868589C>T	uc001jky.3	-	27	3511	c.3173_splice	c.e27+1	p.G1058_splice	ANK3_uc001jkw.3_Splice_Site_p.G192_splice|ANK3_uc009xpa.3_Splice_Site_p.G192_splice|ANK3_uc001jkx.3_Splice_Site_p.G236_splice|ANK3_uc010qih.2_Splice_Site_p.G1059_splice|ANK3_uc001jkz.4_Splice_Site_p.G1052_splice|ANK3_uc001jla.1_Splice_Site_p.G124_splice|ANK3_uc001jlb.1_Splice_Site_p.G576_splice	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1058	ZU5.				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						ACAACTTACCCTAAAAATTGT	0.438000														51			8		0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279704	217279704	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:217279704C>T	uc002vgc.4	+	2	607	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	SMARCAL1_uc002vgd.4_Nonsense_Mutation_p.Q93*|SMARCAL1_uc010fvg.3_Nonsense_Mutation_p.Q93*	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	93					DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CCACAGTTTTCAGGCAAAGGG	0.483000									Schimke Immuno-Osseous Dysplasia					46			20		0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111427208	111427208	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:111427208G>A	uc003dya.3	+	1	1169	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	PLCXD2_uc003dxz.3_Missense_Mutation_p.R200Q	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	200	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.R200Q(2)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TTGACGCTGCGAACTCTGTGG	0.512000														52			19		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45821601	45821601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45821601C>T	uc010gpt.1	+	15	2459	c.2359C>T	c.(2359-2361)Cgc>Tgc	p.R787C	TRPM2_uc002zet.1_Missense_Mutation_p.R787C|TRPM2_uc002zeu.1_Missense_Mutation_p.R787C|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.R787C|TRPM2_uc002zex.1_Missense_Mutation_p.R573C|TRPM2_uc002zey.1_Missense_Mutation_p.R300C	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	787						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.R787R(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCCGCGGCCCGCGCCCGTGC	0.652000														95			39		0	0	1	0	0
WDR69	164781	broad.mit.edu	37	2	228786229	228786229	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228786229G>A	uc002vpn.1	+	11	1244	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	WDR69_uc010zlw.1_Missense_Mutation_p.E374K|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	389										breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GCACACTGATGAAATCTTTTC	0.438000														88			30		0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113587942	113587942	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113587942G>A	uc002tii.1	-	6	893	c.806C>T	c.(805-807)tCc>tTc	p.S269F	IL1B_uc002tih.1_Missense_Mutation_p.S238F	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	269					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	CTCTCTTTAGGAAGACACAAA	0.502000														100			24		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965048	88965048	+	Missense_Mutation	SNP	G	A	A	rs144693443	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:88965048G>A	uc011khi.2	+	3	3290	c.2752G>A	c.(2752-2754)Gga>Aga	p.G918R		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	918						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CACTGCAGAAGGAGAGAGGAC	0.423000										HNSCC(36;0.09)				120			25		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553749	19553749	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:19553749G>A	uc001vuz.1	+	0	385	c.333G>A	c.(331-333)ggG>ggA	p.G111G	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	111								p.R110W(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCTGCAGGGGGAGCGGCAAGA	0.597000														316			100		0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51751483	51751483	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:51751483C>T	uc001jix.4	+	2	738	c.340C>T	c.(340-342)Cag>Tag	p.Q114*		NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	114					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CACAATATTCCAGAGGAACTC	0.348000														176			17		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667107	157667107	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157667107G>A	uc001fqz.4	-	5	959	c.667C>T	c.(667-669)Cag>Tag	p.Q223*	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Nonsense_Mutation_p.Q223*|FCRL3_uc001frc.1_Nonsense_Mutation_p.Q223*	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	223	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AATTGCAGCTGGACATCTGGC	0.587000														70			37		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110864539	110864539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:110864539C>T	uc003hzy.4	+	2	909	c.457C>T	c.(457-459)Ctt>Ttt	p.L153F	EGF_uc011cfu.2_Missense_Mutation_p.L153F|EGF_uc011cfv.2_Missense_Mutation_p.L153F	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	153					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTCCCACATTCTTTTAAGTGC	0.308000														84			20		0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36051420	36051420	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36051420G>A	uc002oal.1	-	5	661	c.632C>T	c.(631-633)cCc>cTc	p.P211L	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	211					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GATGTCGGCGGGCACTCTGTC	0.627000														61			9		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468287	10468287	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10468287C>T	uc003wtc.3	-	3	3550	c.3321G>A	c.(3319-3321)atG>atA	p.M1107I		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1107					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)		GCCTCCTGGCCATGGGCCTAG	0.627000														104			25		0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60562911	60562911	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:60562911G>A	uc001jki.1	+	14	2090	c.2090G>A	c.(2089-2091)gGg>gAg	p.G697E	BICC1_uc001jkj.1_Missense_Mutation_p.G338E	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	697					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AAGGCTCCAGGGAGTGAGCGC	0.532000														63			11		0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104575594	104575594	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:104575594G>A	uc001yop.2	+	12	1547	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	ASPG_uc001yoq.2_Missense_Mutation_p.E488K|ASPG_uc001yor.2_Missense_Mutation_p.E488K	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	488					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GTTGCTGCGGGAAGCCGGGGC	0.652000														28			9		0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78959016	78959016	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:78959016G>A	uc001din.3	+	1	854	c.588G>A	c.(586-588)tgG>tgA	p.W196*	PTGFR_uc001dim.3_Nonsense_Mutation_p.W196*	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	196					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.D195E(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	TCAAAGACTGGGAAGATAGAT	0.408000														114			11		0	0	1	0	0
FAM110C	642273	broad.mit.edu	37	2	45964	45964	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:45964C>T	uc010yim.2	-	0	625	c.422G>A	c.(421-423)gGa>gAa	p.G141E		NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN	Homo sapiens family with sequence similarity 110, member C (FAM110C), mRNA.	141						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		GCCCTCGTCTCCCGTCCGGGG	0.736000														17			4		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117662894	117662894	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117662894G>A	uc001twn.2	-	25	4566	c.3855C>T	c.(3853-3855)ctC>ctT	p.L1285L	NOS1_uc021ren.1_Silent_p.L915L|NOS1_uc021reo.1_Silent_p.L915L|NOS1_uc001twm.2_Silent_p.L1251L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1251					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTGGTCCAACGAGGATGCAGG	0.572000														121			49		0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69669255	69669255	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:69669255C>T	uc004dyi.2	+	2	802	c.455C>T	c.(454-456)cCc>cTc	p.P152L	U4_uc022byp.1_5'Flank|DLG3_uc004dyj.2_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	152	PDZ 1.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					ATCGACAATCCCCATGTCCCT	0.567000														20			29		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36875124	36875124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36875124C>T	uc003cgj.3	-	20	6066	c.5818G>A	c.(5818-5820)Gac>Aac	p.D1940N		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1940					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAGTCCTTGTCGGCAGTGAGC	0.587000														27			10		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383180	22383180	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22383180C>T	uc001yuc.1	+	6	1689	c.708C>T	c.(706-708)gcC>gcT	p.A236A	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.A236A	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGAACAAGGCCATGTCCACGT	0.502000														93			33		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20329723	20329723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20329723C>T	uc002dgv.3	-	7	1129	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	GP2_uc002dgw.3_Missense_Mutation_p.G346E|GP2_uc002dgx.3_Missense_Mutation_p.G202E|GP2_uc002dgy.3_Missense_Mutation_p.G199E	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	349	ZP.					anchored to membrane|extracellular region|plasma membrane		p.G346E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AATGAACTCTCCATTCCCGTC	0.473000														159			14		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657090	143657090	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143657090G>A	uc003wds.1	+	0	71	c.27G>A	c.(25-27)gtG>gtA	p.V9V		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W8L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGACTTGGGTGAGTGAATTTA	0.428000														132			45		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45711070	45711070	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45711070C>T	uc002zei.2	+	7	1099	c.972C>T	c.(970-972)tcC>tcT	p.S324S	AIRE_uc010gpq.2_Non-coding_Transcript|AIRE_uc002zej.2_Silent_p.S127S|AIRE_uc010gpr.2_Silent_p.S127S	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	324					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CCTGCCTGTCCCCTCCGCTCC	0.682000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					30			10		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53216853	53216853	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53216853G>A	uc001sbb.3	-	6	1347	c.1314C>T	c.(1312-1314)gcC>gcT	p.A438A	KRT79_uc001sba.3_Silent_p.A209A	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	438	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCACGTCCAGGGCCAGCTTGA	0.632000														71			28		0	0	1	0	0
TAL2	6887	broad.mit.edu	37	9	108425072	108425072	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:108425072C>T	uc004bct.3	+	0	335	c.295C>T	c.(295-297)Cct>Tct	p.P99S		NM_005421	NP_005412	Q16559	TAL2_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 2 (TAL2), mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CTACCAGGTTCCTTCACCTGG	0.572000			T	TRB@	T-ALL									21			8		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114136107	114136107	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:114136107G>A	uc001kzu.3	+	0	152	c.40G>A	c.(40-42)Gag>Aag	p.E14K	ACSL5_uc001kzs.3_Intron|ACSL5_uc001kzt.3_Intron	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	0					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GAGGAACCACGAGCGAGGGAA	0.632000														101			42		0	0	1	0	0
ABCB9	23457	broad.mit.edu	37	12	123444423	123444423	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:123444423G>A	uc001udm.4	-	1	670	c.360C>T	c.(358-360)ttC>ttT	p.F120F	ABCB9_uc021rfo.1_Silent_p.F120F|ABCB9_uc021rfp.1_Silent_p.F120F|ABCB9_uc001udo.4_Silent_p.F120F|ABCB9_uc010taj.2_Silent_p.F120F|ABCB9_uc001udq.3_5'UTR|ABCB9_uc021rfq.1_Silent_p.F120F|ABCB9_uc001udr.3_Silent_p.F120F	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	120					positive regulation of T cell mediated cytotoxicity|protein transport	TAP complex|lysosomal membrane|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		ACGTCCACACGAACAGGGCCC	0.657000														21			10		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583817	82583817	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82583817C>T	uc003uhx.2	-	4	6741	c.6452G>A	c.(6451-6453)aGa>aAa	p.R2151K	PCLO_uc003uhv.2_Missense_Mutation_p.R2151K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2082					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						TTGAATTTCTCTTGTATAATC	0.413000														74			21		0	0	1	0	0
KLRC4	8302	broad.mit.edu	37	12	10560951	10560951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10560951G>A	uc001qye.3	-	2	499	c.317C>T	c.(316-318)tCc>tTc	p.S106F	KLRK1_uc001qyc.3_5'Flank|KLRK1_uc009zhk.3_5'UTR|KLRK1_uc001qyd.3_5'UTR	NM_013431	NP_038459	O43908	NKG2F_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 4 (KLRC4), mRNA.	106					cellular defense response	integral to membrane	binding|receptor activity	p.S106P(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						TCTATTCAGGGAAAAATTGTT	0.279000														29			12		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152423746	152423746	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152423746C>T	uc021vrb.1	-	84	13018	c.12989G>A	c.(12988-12990)tGg>tAg	p.W4330*	NEB_uc002txr.3_Nonsense_Mutation_p.W796*|NEB_uc002txu.3_Nonsense_Mutation_p.W6031*|NEB_uc021vrc.1_Nonsense_Mutation_p.W6031*|NEB_uc010fnx.3_Nonsense_Mutation_p.W4318*|NEB_uc021vrd.1_Nonsense_Mutation_p.W4330*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4330					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGACACATCCATTGGTGCAA	0.428000														88			36		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37514875	37514875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:37514875C>T	uc003chd.3	+	2	397	c.344C>T	c.(343-345)aCc>aTc	p.T115I	ITGA9_uc003chc.3_Missense_Mutation_p.T115I	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	115					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TGCGGAAAGACCTGCCGGGAA	0.602000														48			11		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1051955	1051955	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:1051955C>T	uc002lqw.4	+	21	3208	c.2977C>T	c.(2977-2979)Ctc>Ttc	p.L993F	ABCA7_uc010dsb.1_Missense_Mutation_p.L855F	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	993	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CACGCTGATCCTCTCCACCCA	0.672000														78			11		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8421909	8421909	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:8421909G>A	uc001ape.3	-	17	2740	c.1930C>T	c.(1930-1932)Ctt>Ttt	p.L644F	RERE_uc001apf.3_Missense_Mutation_p.L644F|RERE_uc010nzx.1_Missense_Mutation_p.L376F|RERE_uc001apd.3_Missense_Mutation_p.L90F	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	644					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTACTCTTAAGAGGGGAAGAG	0.552000														51			25		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41419023	41419023	+	Silent	SNP	G	A	A	rs145714777		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:41419023G>A	uc001rmm.1	+	20	2708	c.2595G>A	c.(2593-2595)tcG>tcA	p.S865S	CNTN1_uc001rmn.1_Silent_p.S854S	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	865	Fibronectin type-III 3.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAGAGTACTCGGCCAGGCTCG	0.483000														205			64		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186059893	186059893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:186059893C>T	uc001grq.1	+	63	9960	c.9731C>T	c.(9730-9732)cCt>cTt	p.P3244L	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3244					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCAAAGTTCCTCCAAGTGTT	0.358000														72			22		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79579213	79579213	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:79579213G>A	uc001jzk.3	-	16	3607	c.3537C>T	c.(3535-3537)ccC>ccT	p.P1179P	DLG5_uc001jzi.3_5'UTR|DLG5_uc001jzj.3_Silent_p.P594P|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Silent_p.P783P	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1179					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)			TCAAACTCCGGGGAACAGTGC	0.612000														38			5		0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31286729	31286729	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31286729G>A	uc003aiy.1	+	7	1742	c.1638G>A	c.(1636-1638)gaG>gaA	p.E546E	OSBP2_uc011ala.1_Silent_p.E380E|OSBP2_uc010gwc.1_Silent_p.E373E|OSBP2_uc011alb.1_Silent_p.E497E|OSBP2_uc003aiz.1_Silent_p.E545E|OSBP2_uc003aja.1_Silent_p.E179E|OSBP2_uc011alc.2_Silent_p.E288E|OSBP2_uc011ald.1_Silent_p.E90E|OSBP2_uc010gwd.1_Silent_p.E91E	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	546					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						ACTTCAATGAGCCCCTGTCCA	0.612000											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			19		0	0	1	0	0
SYTL5	94122	broad.mit.edu	37	X	37935888	37935888	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:37935888G>A	uc004ddx.3	+	4	979	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	SYTL5_uc004ddu.3_Missense_Mutation_p.R208Q|SYTL5_uc004ddv.3_Missense_Mutation_p.R208Q	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	208					intracellular protein transport	membrane	Rab GTPase binding|metal ion binding	p.R208R(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GACACTGGGCGGAGCTATAGC	0.388000														30			38		0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59131945	59131945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59131945G>A	uc010rks.2	+	0	14	c.14G>A	c.(13-15)gGa>gAa	p.G5E		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ACTGGGGGAGGAAATATTACA	0.398000														50			18		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35616947	35616947	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:35616947C>T	uc003xjr.2	+	13	2601	c.2273C>T	c.(2272-2274)cCc>cTc	p.P758L	UNC5D_uc003xjs.2_Missense_Mutation_p.P753L|UNC5D_uc003xju.2_Missense_Mutation_p.P334L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	758					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTTGATATTCCCCCATTCCTC	0.448000														155			39		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349739	100349739	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100349739T>A	uc003uwj.3	+	13	2176	c.2011T>A	c.(2011-2013)Tcc>Acc	p.S671T	ZAN_uc003uwk.3_Missense_Mutation_p.S671T|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	671	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GACCACCACCTCCATGGAAGA	0.522000														68			25		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16895655	16895655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16895655G>A	uc009vos.1	-	22	3415	c.2527C>T	c.(2527-2529)Cct>Tct	p.P843S	NBPF1_uc009vot.1_Missense_Mutation_p.P301S|NBPF1_uc001ayz.1_Missense_Mutation_p.P301S|NBPF1_uc010oce.1_Missense_Mutation_p.P572S	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	843	NBPF 4.					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)		AACATTTCAGGAGGAATTGAG	0.512000														381			27		0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17197380	17197380	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:17197380G>A	uc011aby.1	+	12	1521	c.1304_splice	c.e12+1	p.R435_splice	USP25_uc002yjz.1_Splice_Site_p.R435_splice|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Splice_Site_p.R435_splice	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	435					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AGGCTAGAAAGGTATTTTAAC	0.294000														51			7		0	0	1	0	0
NAP1L5	266812	broad.mit.edu	37	4	89618461	89618461	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:89618461C>T	uc003hrx.3	-	0	563	c.445G>A	c.(445-447)Gag>Aag	p.E149K	HERC3_uc011cdn.1_Intron|HERC3_uc003hrw.1_Intron|HERC3_uc011cdo.1_Intron	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN	Homo sapiens nucleosome assembly protein 1-like 5 (NAP1L5), mRNA.	149	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		tccccctcctcctcgtcatcc	0.637000														77			34		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183179	13183179	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:13183179C>G	uc010obg.2	-	1	937	c.694G>C	c.(694-696)Gat>Cat	p.D232H		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	232						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TGAGTCTCATCTTTCTTCATG	0.463000														168			27		0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40702463	40702463	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:40702463C>T	uc001cfc.4	+	7	2120	c.2089C>T	c.(2089-2091)Caa>Taa	p.Q697*	RLF_uc001cfd.4_Nonsense_Mutation_p.Q388*	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	697					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGCTGAACACCAAAATAATGA	0.388000														95			32		0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67220115	67220115	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67220115G>A	uc001olm.3	-	0	86	c.81C>T	c.(79-81)ccC>ccT	p.P27P	CABP4_uc009yrw.1_Non-coding_Transcript|CABP4_uc001oln.3_5'UTR|CABP4_uc001olo.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	27						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P27P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGCCACCTTGGGGGTAGGAGT	0.652000														36			4		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40572226	40572226	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:40572226G>A	uc002yxk.2	-	38	4967	c.4672C>T	c.(4672-4674)Cgt>Tgt	p.R1558C	BRWD1_uc010goc.1_Missense_Mutation_p.R201C|BRWD1_uc021wjf.1_Missense_Mutation_p.R1558C	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GAGGATTCACGAGCTCTGGAA	0.443000														88			23		0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225750837	225750837	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:225750837G>A	uc010fwz.1	-	5	794	c.555C>T	c.(553-555)tcC>tcT	p.S185S	DOCK10_uc002vob.2_Silent_p.S179S|DOCK10_uc002vod.1_Silent_p.S185S	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	185	PH.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGAGCCAGCCGGACTTGAAAA	0.498000														119			12		0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66504220	66504220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:66504220C>T	uc002lkk.2	+	3	443	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	CCDC102B_uc002lki.2_Missense_Mutation_p.R74C|CCDC102B_uc002lkj.1_Missense_Mutation_p.R74C	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	74										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGAAGAACTTCGCCTGCGGGA	0.483000														173			33		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109801498	109801498	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:109801498C>T	uc001dxa.4	+	1	3816	c.3755C>T	c.(3754-3756)tCc>tTc	p.S1252F		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1252	EGF-like 1; calcium-binding.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTCGACTCCTCCGCGCCCTTC	0.687000														21			4		0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62652709	62652709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:62652709G>A	uc001jli.3	-	5	779	c.341C>T	c.(340-342)tCc>tTc	p.S114F	RHOBTB1_uc009xpe.2_Intron|RHOBTB1_uc001jlh.3_Missense_Mutation_p.S114F|RHOBTB1_uc001jlj.3_Missense_Mutation_p.S114F|RHOBTB1_uc001jlk.3_Missense_Mutation_p.S114F	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	114	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATGATTTAGGGAATTGGGATT	0.408000														110			30		0	0	1	0	0
ZDHHC22	283576	broad.mit.edu	37	14	77600103	77600103	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:77600103C>T	uc010asp.3	-	2	918	c.715G>A	c.(715-717)Gga>Aga	p.G239R		NM_174976	NP_777636	Q8N966	ZDH22_HUMAN	Homo sapiens zinc finger, DHHC-type containing 22 (ZDHHC22), mRNA.	239						integral to membrane	acyltransferase activity|zinc ion binding			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		CACCTCTTTCCGAAGACCTCT	0.602000														34			18		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23827677	23827677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:23827677C>T	uc003sws.4	+	20	2633	c.2566C>T	c.(2566-2568)Cat>Tat	p.H856Y	STK31_uc003swt.4_Missense_Mutation_p.H833Y|STK31_uc011jze.2_Missense_Mutation_p.H856Y|STK31_uc010kuq.3_Missense_Mutation_p.H833Y|STK31_uc003swv.1_Missense_Mutation_p.H22Y	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	856	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGATCACTTCATCAGAACAA	0.353000														82			47		0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8531249	8531250	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8531249_8531250CC>TT	uc010dwe.3	+	6	841_842	c.761_762CC>TT	c.(760-762)tcc>tTT	p.S254F	HNRNPM_uc010dwc.1_Missense_Mutation_p.S254F|HNRNPM_uc010xke.1_Missense_Mutation_p.S215F|HNRNPM_uc010dwd.3_Missense_Mutation_p.S215F|HNRNPM_uc002mka.3_Missense_Mutation_p.S134F	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	254	RRM 2.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TTTGAACAGTCCATTGAAGCTG	0.396000														137			51		0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96971650	96971650	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96971650C>T	uc001kke.3	+	5	896	c.771C>T	c.(769-771)ctC>ctT	p.L257L	C10orf129_uc009xuu.1_Silent_p.L167L	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	257					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GGATGGATCTCCAGCCAACAG	0.473000														37			18		0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50667106	50667106	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:50667106C>T	uc002egg.2	+	9	1051	c.827C>T	c.(826-828)tCc>tTc	p.S276F		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	276					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TTCCTAGGCTCCCCTTCCGTG	0.582000														55			25		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299400	58299400	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:58299400G>A	uc001vhq.1	+	3	4344	c.3452G>A	c.(3451-3453)gGa>gAa	p.G1151E	PCDH17_uc010aec.1_Missense_Mutation_p.G1150E|PCDH17_uc001vhr.1_Missense_Mutation_p.G240E	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1151					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GACTGCCGGGGAAACGACCCT	0.448000														157			14		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149453010	149453010	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149453010C>T	uc003lrl.3	-	5	1131	c.936G>A	c.(934-936)gaG>gaA	p.E312E	CSF1R_uc011dcd.2_Silent_p.E164E|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.E312E|CSF1R_uc011dce.1_Intron	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	312	Ig-like C2-type 4.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCACGGTCACCTCCTGGATGA	0.532000														116			44		0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	517373	517373	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:517373C>T	uc003gak.4	+	8	1876	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	PIGG_uc003gaj.4_Silent_p.F572F|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Silent_p.F447F|PIGG_uc003gal.4_Silent_p.F491F	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	580					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CCTGGTACTTCCTTGTGAACA	0.567000														119			54		0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115544823	115544823	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:115544823G>A	uc003ibs.2	+	1	1309	c.787G>A	c.(787-789)Gga>Aga	p.G263R	UGT8_uc003ibt.2_Missense_Mutation_p.G263R|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	263					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TTATGTAGGAGGAATCCTAAC	0.423000														72			33		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31318615	31318615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:31318615C>T	uc010dmg.1	+	10	1302	c.1247C>T	c.(1246-1248)cCt>cTt	p.P416L	ASXL3_uc002kxq.2_Missense_Mutation_p.P123L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTCCAGAGCCTGGTTTCTGT	0.453000														38			17		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19654261	19654261	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:19654261C>T	uc002wrl.3	+	8	927	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	244						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTCTTTAGTCCTTGTGCTGAT	0.353000														59			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9014636	9014636	+	Missense_Mutation	SNP	G	A	A	rs34857031		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9014636G>A	uc002mkp.3	-	30	38543	c.38339C>T	c.(38338-38340)cCt>cTt	p.P12780L	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12782	SEA 5.			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						GTCCACTCCAGGGCTTTTGGG	0.562000														92			27		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2321209	2321209	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:2321209C>T	uc002wfx.4	+	12	2161	c.2064C>T	c.(2062-2064)tcC>tcT	p.S688S		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	688					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CCATGTTGTCCATCGATGTAG	0.587000														75			24		0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33879667	33879667	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33879667C>T	uc021wck.1	-	0	559	c.441G>A	c.(439-441)gtG>gtA	p.V147V	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	147										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGAAGTGGACCACAGCCTGGG	0.612000														99			43		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196659215	196659215	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196659215C>T	uc002utj.4	-	56	10664	c.10563G>A	c.(10561-10563)acG>acA	p.T3521T	DNAH7_uc002uti.4_Silent_p.T4T	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3521	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGGTAACTCGTTAGCCACA	0.383000														86			35		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24366209	24366209	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:24366209C>T	uc002dmf.3	+	2	1553	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	117					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.F117F(2)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TGCTGTTCTTCGGCGGGCTCT	0.617000														42			17		0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54577320	54577320	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:54577320G>A	uc003jpx.3	-	11	2109	c.1989C>T	c.(1987-1989)atC>atT	p.I663I	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	663	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ATTCCATCCGGATCTGATATC	0.393000														98			23		0	0	1	0	0
HOOK1	51361	broad.mit.edu	37	1	60330893	60330893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:60330893C>T	uc009wad.3	+	18	1822	c.1720C>T	c.(1720-1722)Ctt>Ttt	p.L574F	HOOK1_uc001czo.3_Missense_Mutation_p.L574F|HOOK1_uc001czp.3_Intron|HOOK1_uc010oor.2_Missense_Mutation_p.L532F	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	574					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					CATTGAAGATCTTCAGCCAGA	0.373000														60			19		0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241569894	241569894	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241569894C>T	uc010fzi.2	+	5	1490	c.618C>T	c.(616-618)ttC>ttT	p.F206F	GPR35_uc010fzh.2_Silent_p.F206F|GPR35_uc021vze.1_Silent_p.F175F|GPR35_uc002vzs.2_Silent_p.F175F	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	175						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CCATGGCGTTCCCGCTGCTGG	0.657000														72			16		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976248	131976248	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:131976248G>A	uc002tsn.2	+	0	325	c.273G>A	c.(271-273)atG>atA	p.M91I	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	91							ATP binding										ACTCTGCTATGAAGACACTCA	0.617000														83			18		0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116943869	116943869	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:116943869C>T	uc001ege.3	+	19	3175	c.2836C>T	c.(2836-2838)Cag>Tag	p.Q946*	ATP1A1_uc010owv.1_Nonsense_Mutation_p.Q915*|ATP1A1_uc010oww.2_Nonsense_Mutation_p.Q946*|ATP1A1_uc010owx.2_Nonsense_Mutation_p.Q915*|ATP1A1OS_uc009whb.2_Intron|ATP1A1OS_uc001egg.3_Intron	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	946					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TTCGGTCTTCCAGCAGGGGAT	0.488000														59			8		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50056163	50056163	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:50056163C>T	uc003jon.4	+	5	494	c.312C>T	c.(310-312)tcC>tcT	p.S104S	PARP8_uc011cpz.2_Intron|PARP8_uc003joo.3_Silent_p.S104S|PARP8_uc003jop.3_Silent_p.S104S	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	104						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GTTGCTTATCCATAAAATCCA	0.234000														44			8		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642599	57642599	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57642599C>T	uc002qny.3	+	3	2912	c.2556C>T	c.(2554-2556)gcC>gcT	p.A852A	USP29_uc021vci.1_Silent_p.A852A	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	852					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			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)		AGAAGCAGGCCTGGTTCACAT	0.468000														52			18		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74565190	74565190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74565190G>A	uc002axo.3	+	6	1111	c.717G>A	c.(715-717)atG>atA	p.M239I	CCDC33_uc002axp.3_Missense_Mutation_p.M61I	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	442	C2.						protein binding	p.M238I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGTCCATGATGAACTTTGACG	0.602000														103			24		0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	133058644	133058644	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:133058644G>A	uc001lkp.3	-	3	820	c.734C>T	c.(733-735)gCc>gTc	p.A245V	TCERG1L_uc009yax.1_Non-coding_Transcript	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	245	Poly-Ala.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CATggcagcggcggcggcggt	0.667000														11			6		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27458130	27458130	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27458130C>T	uc002rji.3	+	23	3966	c.3804C>T	c.(3802-3804)ttC>ttT	p.F1268F	CAD_uc010eyw.3_Silent_p.F1205F	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1268	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AGTTCTCCTTCTCCCGCTTGG	0.617000														76			9		0	0	1	0	0
GTF2H3	2967	broad.mit.edu	37	12	124135583	124135583	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124135583C>T	uc001ufo.1	+	4	433	c.407C>T	c.(406-408)tCc>tTc	p.S136F	GTF2H3_uc010tau.1_Missense_Mutation_p.S95F	NM_001516	NP_001507	Q13889	TF2H3_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 3, 34kDa (GTF2H3), mRNA.	136					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		CTGGCAGGATCCCTGGCCAAA	0.368000								Nucleotide excision repair (NER)						44			23		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52926959	52926959	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:52926959G>A	uc003gzl.3	+	2	483	c.205G>A	c.(205-207)Gat>Aat	p.D69N	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.D69N|SPATA18_uc003gzk.1_Missense_Mutation_p.D69N	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	69					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGGACGTAATGATGGTGTGGA	0.458000														74			9		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935757	94935757	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94935757C>T	uc001ydf.3	-	1	636	c.475G>A	c.(475-477)Gag>Aag	p.E159K	SERPINA9_uc001yde.3_Intron|SERPINA9_uc010avc.3_Missense_Mutation_p.E10K|SERPINA9_uc001ydg.3_Missense_Mutation_p.E123K|SERPINA9_uc001ydh.1_Missense_Mutation_p.E159K|SERPINA9_uc001ydi.1_Missense_Mutation_p.E123K	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.	141					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)		AGCTGCAGCTCCTTCTTGACG	0.527000														139			15		0	0	1	0	0
DEGS2	123099	broad.mit.edu	37	14	100615443	100615443	+	Silent	SNP	G	A	A	rs145891510		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:100615443G>A	uc001ygx.2	-	1	775	c.687C>T	c.(685-687)ttC>ttT	p.F229F		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA.	229					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	p.F229F(4)		breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCTCGGCCACGAAGTGGCCCG	0.622000														90			37		0	0	1	0	0
PHF2P1	266695	broad.mit.edu	37	13	19625500	19625500	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19625500G>A	uc001umb.1	-	7		c.3023C>T								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		GGTGGGACAGGAAGGTGGTGA	0.562000														15			5		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53683068	53683068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53683068C>T	uc001sck.2	+	20	4994	c.4903C>T	c.(4903-4905)Cac>Tac	p.H1635Y	ESPL1_uc001scj.2_Missense_Mutation_p.H1310Y	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1635					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCTGCTCACCCACCTCCACAG	0.602000														152			10		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89156913	89156913	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:89156913C>T	uc003dqy.3	+	0	240	c.15C>T	c.(13-15)ctC>ctT	p.L5L	EPHA3_uc003dqx.1_Silent_p.L5L|EPHA3_uc021xbf.1_Silent_p.L5L	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	5						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATTGTCAGCTCTCCATCCTCC	0.562000										TSP Lung(6;0.00050)				130			30		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17522690	17522690	+	Missense_Mutation	SNP	G	A	A	rs140313023		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17522690G>A	uc001mnf.3	-	17	1497	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	USH1C_uc001mne.3_Missense_Mutation_p.S763F|USH1C_uc009yhb.3_Missense_Mutation_p.S444F|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.S427F	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	463	PDZ 3.				G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CAGGTCTAAGGATCCCTCCTG	0.592000														15			8		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46267841	46267842	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:46267841_46267842CC>TT	uc002xtk.3	+	13	2863_2864	c.2602_2603CC>TT	c.(2602-2604)cct>TTt	p.P868F	NCOA3_uc002xtl.3_Missense_Mutation_p.P868F|NCOA3_uc002xtn.3_Missense_Mutation_p.P868F|NCOA3_uc010ght.2_Missense_Mutation_p.P878F|NCOA3_uc002xtm.3_Missense_Mutation_p.P868F|NCOA3_uc010zyc.2_Missense_Mutation_p.P663F	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	868					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGCTCAAGTCCTCCAGTAAAA	0.436000														84			35		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191233	152191233	+	Missense_Mutation	SNP	C	T	T	rs138860104	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152191233C>T	uc001ezt.1	-	2	2948	c.2872G>A	c.(2872-2874)Gaa>Aaa	p.E958K		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	958					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTGTTGTTCGTAGCTGGAG	0.552000														331			135		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10083692	10083692	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10083692C>T	uc002mmq.1	-	50	3763	c.3677G>A	c.(3676-3678)gGa>gAa	p.G1226E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1226	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)			ACCAATGTCTCCCTTGGGCCC	0.577000														16			8		0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49579395	49579395	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49579395G>A	uc009zlf.3	-	3	1026	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L	TUBA1A_uc001rtp.3_Silent_p.L252L	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	Homo sapiens tubulin, alpha 1a (TUBA1A), mRNA.	252					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						AATTCTGTCAGGTCAACATTC	0.488000														72			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179499268	179499268	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179499268C>T	uc021vsy.1	-	178	34761	c.34536G>A	c.(34534-34536)gaG>gaA	p.E11512E	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.E5207E|TTN_uc021vta.1_Silent_p.E5140E|TTN_uc021vtb.1_Silent_p.E5015E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12439	Glu-rich.|Pro-rich.						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)			TAACATTTGCCTCTCGGGTGA	0.398000														131			50		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152737851	152737851	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:152737851C>T	uc021zhb.1	-	38	5944	c.5721G>A	c.(5719-5721)aaG>aaA	p.K1907K	SYNE1_uc003qot.4_Silent_p.K1914K|SYNE1_uc003qou.4_Silent_p.K1907K|SYNE1_uc010kjb.1_Silent_p.K1890K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1907					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATTGAGGTCCTTTTCTATCA	0.463000										HNSCC(10;0.0054)				30			25		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156957	22156957	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22156957G>A	uc021urr.1	-	3	1028	c.879C>T	c.(877-879)gcC>gcT	p.A293A	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)				CCTTACTAAAGGCTTTGCCAC	0.393000														64			24		0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66648120	66648120	+	Missense_Mutation	SNP	G	A	A	rs147474467		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:66648120G>A	uc003tvn.3	+	13	1855	c.1706G>A	c.(1705-1707)cGa>cAa	p.R569Q	TYW1_uc010lai.3_Non-coding_Transcript|TYW1_uc011kef.2_Missense_Mutation_p.R183Q	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	569					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TAGCAACAACGAACTGTCTAC	0.498000														18			8		0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48169959	48169959	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:48169959G>A	uc003gxz.3	-	6	598	c.507C>T	c.(505-507)ccC>ccT	p.P169P		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	169					intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P169S(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GAATTGGTGGGGGAGGCCTTC	0.383000														101			11		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20168604	20168604	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:20168604G>A	uc002wru.3	+	13	1530	c.1416G>A	c.(1414-1416)ttG>ttA	p.L472L	C20orf26_uc010zse.2_Silent_p.L452L	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	472										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)		CCACTCTCTTGGATACTCCTG	0.393000														91			17		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110730466	110730466	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:110730466C>T	uc003kpf.3	+	4	680	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L	CAMK4_uc010jbv.3_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	149	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TAAACAAATCCTGGAGGCAGT	0.398000														39			30		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994357	140994357	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140994357C>T	uc004fbt.3	+	3	1491	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.F48F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	389							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)					TGAGTCTTTTCCAGAGTTCCC	0.488000										HNSCC(15;0.026)				86			94		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594352	140594352	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140594352C>T	uc003lja.1	+	0	844	c.657C>T	c.(655-657)ggC>ggT	p.G219G		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	219	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGATGGTGGCTCTCCGCCCA	0.532000														142			36		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40362893	40362893	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40362893G>A	uc002omp.4	-	31	15185	c.15177C>T	c.(15175-15177)ccC>ccT	p.P5059P		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5059	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGTCGCGAAGGGGCCCTGGG	0.652000														118			49		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6711196	6711196	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6711196C>T	uc002mfm.3	-	11	1343	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	427					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.T426T(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCTCCTGCTTCTTCGTGCGCA	0.607000														51			12		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033491	95033491	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:95033491C>T	uc010avd.3	+	2	1219	c.945C>T	c.(943-945)ttC>ttT	p.F315F	SERPINA4_uc001ydk.3_Silent_p.F278F|SERPINA4_uc001ydl.3_Silent_p.F278F	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	278					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCGTGTTTTTCATTCTCCCTA	0.478000														39			26		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20683155	20683155	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:20683155C>T	uc010kuh.3	+	6	815	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	379					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	p.S193L(1)|p.S193*(1)		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						TCTACTTTTTCGATTGGCCTG	0.423000														112			28		0	0	1	0	0
POTED	317754	broad.mit.edu	37	21	14982958	14982958	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:14982958C>T	uc002yjb.1	+	0	461	c.409C>T	c.(409-411)Cga>Tga	p.R137*		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	137						plasma membrane		p.R137Q(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CCACATCCGTCGAGAAGATCT	0.587000														56			7		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34180243	34180243	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:34180243C>T	uc002nus.4	+	2	581	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	CHST8_uc002nut.4_Missense_Mutation_p.L26F|CHST8_uc002nuu.3_Missense_Mutation_p.L26F	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	26					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TGCAGGCCTCCTCCTCTTCAT	0.642000														119			24		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6678261	6678261	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6678261G>A	uc002mfm.3	-	39	4814	c.4752C>T	c.(4750-4752)ttC>ttT	p.F1584F		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1584	NTR.				G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGGGGCTGATGAACGTGCGCT	0.592000														34			21		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98363806	98363806	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98363806C>T	uc001kmq.3	-	15	2299	c.2171_splice	c.e15-1	p.S724_splice	PIK3AP1_uc001kmo.3_Splice_Site_p.S323_splice|PIK3AP1_uc001kmp.3_Splice_Site_p.S546_splice	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	724						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)		ACTTGTGCTACCTAAAGGGTA	0.453000														14			5		0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911994	158911994	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158911994C>T	uc001ftb.3	+	4	1057	c.807C>T	c.(805-807)atC>atT	p.I269I	PYHIN1_uc001ftc.3_Silent_p.I260I|PYHIN1_uc001ftd.3_Silent_p.I269I|PYHIN1_uc001fte.3_Silent_p.I260I	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	269	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGAGAATCATCATTATATCAA	0.378000														52			15		0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116205144	116205144	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:116205144C>T	uc021pyx.1	-	15	1853	c.1754G>A	c.(1753-1755)aGa>aAa	p.R585K	ABLIM1_uc021pyw.1_Missense_Mutation_p.R585K|ABLIM1_uc021pyy.1_Missense_Mutation_p.R553K|ABLIM1_uc021pyz.1_Missense_Mutation_p.R519K|ABLIM1_uc021pza.1_Missense_Mutation_p.R525K|ABLIM1_uc021pze.1_Missense_Mutation_p.R462K|ABLIM1_uc021pzf.1_Missense_Mutation_p.R549K|ABLIM1_uc021pyv.1_Missense_Mutation_p.R255K|ABLIM1_uc021pzb.1_Missense_Mutation_p.R180K|ABLIM1_uc021pzc.1_Missense_Mutation_p.R201K|ABLIM1_uc021pzd.1_Missense_Mutation_p.R398K|ABLIM1_uc021pyu.1_Missense_Mutation_p.R262K	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	585					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GCCACTAGATCTGCGTTTCAT	0.458000														135			61		0	0	1	0	0
FASTKD2	22868	broad.mit.edu	37	2	207636626	207636626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:207636626C>T	uc002vbu.3	+	4	1409	c.999C>T	c.(997-999)gcC>gcT	p.A333A	FASTKD2_uc002vbv.3_Silent_p.A333A|FASTKD2_uc002vbx.3_Silent_p.A333A|FASTKD2_uc002vbw.1_Silent_p.A333A	NM_001136193	NP_055744	Q9NYY8	FAKD2_HUMAN	Homo sapiens FAST kinase domains 2 (FASTKD2), transcript variant 2, mRNA.	333					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AGATGAAAGCCTTGAGGGAAT	0.323000														58			13		0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134232995	134232995	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:134232995G>A	uc003yub.3	+	2	627	c.521G>A	c.(520-522)aGc>aAc	p.S174N	WISP1_uc003yuc.3_Intron|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	174	VWFC.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CGGCGCGTGAGCATACCTGGC	0.677000														52			17		0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833575	43833575	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43833575C>T	uc002zbe.3	+	4	694	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L	UBASH3A_uc002zbf.3_Intron|UBASH3A_uc010gpe.3_Intron|UBASH3A_uc010gpc.3_Intron|UBASH3A_uc010gpd.3_Intron	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	204						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TGGCCCTAACCTGAGGCTGAG	0.527000														42			16		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57395136	57395136	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57395136G>A	uc001cyp.3	-	11	1784	c.1717C>T	c.(1717-1719)Cct>Tct	p.P573S	C8B_uc010oon.2_Missense_Mutation_p.P511S|C8B_uc010ooo.2_Missense_Mutation_p.P521S	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	573	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CCATTTTGAGGAGGTGGATTG	0.483000														57			24		0	0	1	0	0
IFNA7	3444	broad.mit.edu	37	9	21201647	21201647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21201647C>T	uc003zop.1	-	0	558	c.518G>A	c.(517-519)aGa>aAa	p.R173K	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	Homo sapiens interferon, alpha 7 (IFNA7), mRNA.	173					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAGAAGGATCTCATGATTTC	0.388000														244			153		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160710199	160710199	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:160710199C>T	uc002ubb.4	-	18	2679	c.2605G>A	c.(2605-2607)Gat>Aat	p.D869N	LY75-CD302_uc010fos.3_Missense_Mutation_p.D869N|LY75-CD302_uc002ubc.4_Missense_Mutation_p.D869N	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	869	C-type lectin 5.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TTCTGTCCATCACCAGATATC	0.363000														118			48		0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36982421	36982421	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:36982421G>A	uc010jwp.1	+	7	995	c.824_splice	c.e7-1	p.K275_splice	FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_Splice_Site|FGD2_uc003oni.1_Splice_Site_p.K81_splice	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	275	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GCCCCTTTCAGAAGCCCTGGA	0.597000														38			16		0	0	1	0	0
VAV2	7410	broad.mit.edu	37	9	136661588	136661589	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:136661588_136661589GG>AA	uc004ces.3	-	10	1040_1041	c.994_995CC>TT	c.(994-996)ccc>TTc	p.P332F	VAV2_uc004cer.3_Missense_Mutation_p.P327F	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	332	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|metal ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CCTCTGCATGGGGACCACCAGC	0.609000														27			7		0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96163655	96163655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:96163655G>A	uc003hto.3	-	6	1386	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S	UNC5C_uc010ilc.2_Missense_Mutation_p.P345S|UNC5C_uc003htq.3_Missense_Mutation_p.P345S	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	345	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CCATTCTTGGGGGCTGGCGCC	0.567000														25			12		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204946817	204946817	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204946817G>A	uc010prc.2	+	15	2070	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	NFASC_uc001hbj.3_Missense_Mutation_p.A614T|NFASC_uc010pra.2_Intron|NFASC_uc001hbi.3_Intron|NFASC_uc010prb.2_Missense_Mutation_p.A625T|NFASC_uc001hbk.1_Intron			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	614	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGCTGATCAGGCCACTCCAAC	0.537000														34			11		0	0	1	0	0
TNFSF4	7292	broad.mit.edu	37	1	173176258	173176258	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:173176258C>T	uc001giw.3	-	0	214	c.58G>A	c.(58-60)Gag>Aag	p.E20K	TNFSF4_uc001giv.3_5'Flank	NM_003326	NP_003317	P23510	TNFL4_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 4 (TNFSF4), mRNA.	20					T-helper 2 cell activation|acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of T-helper 1 cell differentiation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell activation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of alpha-beta T cell proliferation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						TTGTTCCTCTCGAATCTTGGC	0.512000														70			23		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142178189	142178189	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:142178189C>T	uc003yvy.3	+	12	1878	c.1600C>T	c.(1600-1602)Cat>Tat	p.H534Y	DENND3_uc010mep.3_Missense_Mutation_p.H495Y|DENND3_uc003yvz.1_Missense_Mutation_p.H218Y	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	534										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCAGGCATACCATGCCCACTT	0.532000														140			17		0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5069154	5069154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:5069154C>T	uc010mhm.3	+	9	1572	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	JAK2_uc003ziw.3_Missense_Mutation_p.R487C	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	487					JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GGAAACTGTTCGCTCAGACAA	0.338000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial					46			26		0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15452403	15452403	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:15452403C>T	uc003nbj.3	+	3	734	c.490C>T	c.(490-492)Cga>Tga	p.R164*	JARID2_uc011diu.1_Intron|JARID2_uc011div.2_5'UTR|JARID2_uc011diw.1_Nonsense_Mutation_p.R126*	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	164					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.R164*(2)|p.R164Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCTCTGCCTTCGAGGTAAGAC	0.468000														89			11		0	0	1	0	0
TCRBV20S1	0	broad.mit.edu	37	7	142032393	142032393	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142032393G>A	uc011krs.1	+	1	246	c.213G>A	c.(211-213)aaG>aaA	p.K71K	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron					Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds.																		TCCAAGGCAAGGATGCAGCAG	0.532000														26			8		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124608753	124608753	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124608753C>T	uc001lgs.3	-	2	574	c.-377_splice	c.e2+1		CUZD1_uc010qtz.2_Intron|FAM24B_uc001lgt.3_3'UTR|FAM24B_uc021qai.1_3'UTR	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.						cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TTGTGCCCACCTTTCCTAACT	0.393000														67			26		0	0	1	0	0
NR2E3	10002	broad.mit.edu	37	15	72105971	72105971	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72105971A>G	uc002ati.3	+	6	1179	c.989A>G	c.(988-990)aAg>aGg	p.K330R	NR2E3_uc002ath.1_Missense_Mutation_p.K330R	NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA.	330					phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						GTCCTCTTCAAGCCAGGTAAC	0.567000														67			11		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9118220	9118220	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:9118220G>A	uc001apo.3	-	1	415	c.123C>T	c.(121-123)tcC>tcT	p.S41S	SLC2A5_uc010nzz.2_Intron|SLC2A5_uc010oaa.2_Missense_Mutation_p.P10L|SLC2A5_uc010oac.2_Silent_p.S41S|SLC2A5_uc001app.4_Silent_p.S41S|SLC2A5_uc021ofv.1_Non-coding_Transcript	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	41					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGTGCTGGGGAGTTGACAG	0.597000														31			21		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64589979	64589979	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:64589979G>A	uc003dmg.3	-	23	3535	c.3503C>T	c.(3502-3504)cCc>cTc	p.P1168L	ADAMTS9_uc011bfo.2_Missense_Mutation_p.P1140L|ADAMTS9_uc003dmh.1_Missense_Mutation_p.P997L|ADAMTS9_uc011bfp.1_Missense_Mutation_p.P79L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1168					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGCAGCTGGGGGAGGATGACA	0.478000														68			33		0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032617	30032617	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:30032617C>T	uc021qfi.1	-	0	1609	c.1609G>A	c.(1609-1611)Ggc>Agc	p.G537S	KCNA4_uc001msk.3_Missense_Mutation_p.G537S	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	537						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACAATCTTGCCCCCTACAGTG	0.498000														66			9		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65909275	65909276	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:65909275_65909276CC>TT	uc002jgf.3	+	10	5336_5337	c.5275_5276CC>TT	c.(5275-5277)cct>TTt	p.P1759F	BPTF_uc002jge.3_Missense_Mutation_p.P1885F	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1885	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATATCCTTCTCCTAGACCGACC	0.371000														170			54		0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	92006331	92006331	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:92006331C>T	uc004aqo.1	-	11	1195	c.623_splice	c.e11-1	p.E208_splice	SEMA4D_uc011ltm.1_Splice_Site_p.E208_splice|SEMA4D_uc011ltn.1_Splice_Site|SEMA4D_uc011lto.1_Splice_Site|SEMA4D_uc004aqp.1_Splice_Site_p.E208_splice	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	208	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						AAACTAGGCTCTGCAGAGAGA	0.582000														57			13		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7618780	7618780	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7618780C>T	uc010xjq.2	+	20	2550	c.2310C>T	c.(2308-2310)ccC>ccT	p.P770P	PNPLA6_uc002mgq.2_Silent_p.P722P|PNPLA6_uc010xjp.2_Silent_p.P695P|PNPLA6_uc002mgr.2_Silent_p.P722P|PNPLA6_uc002mgs.3_Silent_p.P760P	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	761					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGGGTGTGCCCCCACACTCGG	0.582000														54			14		0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98084132	98084132	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98084132G>A	uc001kmf.3	+	5	1030	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	DNTT_uc001kmg.3_Missense_Mutation_p.R287Q	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	287	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AAATTTACACGAATGCAGAAA	0.453000														104			30		0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42678454	42678454	+	Missense_Mutation	SNP	G	A	A	rs35855730		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42678454G>A	uc001zpn.1	+	2	775	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Missense_Mutation_p.E70K|CAPN3_uc010udf.1_Missense_Mutation_p.E70K|CAPN3_uc010udg.1_Missense_Mutation_p.E70K|CAPN3_uc001zpo.1_Missense_Mutation_p.E157K|CAPN3_uc001zpp.1_Missense_Mutation_p.E157K	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	157	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AAGTTTCATCGAAAACTACGC	0.552000											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		120			50		0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185229332	185229332	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:185229332C>T	uc003fpm.3	-	8	1358	c.1248G>A	c.(1246-1248)agG>agA	p.R416R	LIPH_uc010hyh.3_Silent_p.R382R	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	416					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGGCAAGGGACCTTAACTTCA	0.468000														69			34		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94114841	94114841	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:94114841C>T	uc003kkx.2	-	18	2584	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K	MCTP1_uc003kkv.2_Missense_Mutation_p.E641K|MCTP1_uc003kkw.2_Missense_Mutation_p.E555K|MCTP1_uc003kku.2_Missense_Mutation_p.E378K	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	862					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCTTCTTCTTCCTCGTCCTCT	0.418000														105			24		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166167070	166167071	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166167070_166167071GC>TT	uc002udc.3	+	6	1225_1226	c.935_936GC>TT	c.(934-936)agc>aTT	p.S312I	SCN2A_uc002udd.3_Missense_Mutation_p.S312I|SCN2A_uc002ude.3_Missense_Mutation_p.S312I	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	312					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGGACAGTGAGCATATTTAACT	0.287000														47			17		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450836	55450836	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55450836C>T	uc002qih.4	-	3	1427	c.1351G>A	c.(1351-1353)Gga>Aga	p.G451R	NLRP7_uc010esk.3_Missense_Mutation_p.G451R|NLRP7_uc002qig.4_Missense_Mutation_p.G451R|NLRP7_uc002qii.4_Missense_Mutation_p.G451R|NLRP7_uc010esl.3_Missense_Mutation_p.G479R	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	451	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGATGTCTCCGTCCAGGAAC	0.622000														45			19		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5436224	5436224	+	Missense_Mutation	SNP	G	A	A	rs149973177		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:5436224G>A	uc002gci.3	-	10	3769	c.3214C>T	c.(3214-3216)Cct>Tct	p.P1072S	NLRP1_uc002gcg.1_Missense_Mutation_p.P1076S|NLRP1_uc002gch.4_Missense_Mutation_p.P1072S|NLRP1_uc002gck.3_Missense_Mutation_p.P1072S|NLRP1_uc002gcj.3_Missense_Mutation_p.P1042S|NLRP1_uc002gcl.3_Missense_Mutation_p.P1042S|NLRP1_uc010clh.3_Missense_Mutation_p.P1072S	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1072					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.P1072S(3)|p.P1076S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTCCCCAAAGGCTTCGTATGC	0.577000														49			7		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1260591	1260591	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1260591C>T	uc002cks.3	+	19	4226	c.3978C>T	c.(3976-3978)gtC>gtT	p.V1326V	CACNA1H_uc002ckt.3_Silent_p.V1326V|CACNA1H_uc002cku.3_Silent_p.V32V|CACNA1H_uc010brj.3_Silent_p.V32V|CACNA1H_uc002ckv.3_Silent_p.V32V	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1326					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)	AGGAGCGGGTCTTCCTCAGCG	0.667000														28			7		0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	161025734	161025734	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:161025734G>A	uc002ubh.2	-	6	1021	c.1006C>T	c.(1006-1008)Cat>Tat	p.H336Y	ITGB6_uc010fow.1_Non-coding_Transcript|ITGB6_uc010fou.2_Missense_Mutation_p.H336Y|ITGB6_uc010zcq.1_Missense_Mutation_p.H294Y|ITGB6_uc010fov.1_Missense_Mutation_p.H336Y	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	336	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCATATAAATGAACTTGTTCT	0.323000														83			32		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78516338	78516338	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:78516338G>A	uc001ozl.4	-	15	2642	c.2179_splice	c.e15+1	p.E727_splice		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	727	EGF-like 6.				signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGCATTTACCGATAGAACAGT	0.552000														16			3		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529187	57529187	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:57529187G>A	uc011kdi.1	+	3	1132	c.1020G>A	c.(1018-1020)aaG>aaA	p.K340K		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAACCCTTAAGAAACATAAGA	0.398000														39			15		0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90528592	90528592	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:90528592G>A	uc001xye.1	+	0	485	c.43G>A	c.(43-45)Gag>Aag	p.E15K		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	15						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CCACCTGAACGAGGACAACGC	0.756000														20			3		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169562877	169562877	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169562877G>A	uc001ggi.4	-	13	2438	c.2373C>T	c.(2371-2373)ctC>ctT	p.L791L	SELP_uc001ggh.3_Intron|SELP_uc009wvr.3_Silent_p.L790L	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	791					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.T790M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GCAAAGCCAGGAGCGTCCCAC	0.413000														58			9		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703277	4703277	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4703277C>T	uc001lzk.2	-	1	909	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	OR51E2_uc021qcr.1_Missense_Mutation_p.R222Q	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAGAACCGTTCGTATTATCAG	0.488000														59			29		0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64152334	64152334	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:64152334C>T	uc003ttd.3	+	5	801	c.15C>T	c.(13-15)ccC>ccT	p.P5P	ZNF107_uc003tte.3_Silent_p.P5P	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TAGCCAAACCCCCAGGTAGGT	0.398000														144			23		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38805726	38805726	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38805726C>T	uc021yzh.1	+	32	4483	c.4374C>T	c.(4372-4374)ttC>ttT	p.F1458F	DNAH8_uc003ooe.2_Silent_p.F1241F	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGCCAGTTTCGATGATCTGT	0.323000														50			20		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481952	140481952	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140481952C>T	uc003lio.3	+	0	1719	c.1719C>T	c.(1717-1719)acC>acT	p.T573T	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	573	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCTGCACCGAGCTGGTGC	0.701000														92			26		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32526597	32526597	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:32526597C>T	uc002yow.1	-	17	3611	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K	TIAM1_uc011adk.1_Missense_Mutation_p.E1047K|TIAM1_uc011adl.1_Missense_Mutation_p.E987K	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1047	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	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCCAGGAGCTCGCAGATCACC	0.582000														18			30		0	0	1	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45128160	45128160	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:45128160C>T	uc003bfd.3	+	5	721	c.444C>T	c.(442-444)gcC>gcT	p.A148A	PRR5-ARHGAP8_uc003bew.2_Silent_p.A139A|PRR5-ARHGAP8_uc003bex.2_Silent_p.A53A|PRR5-ARHGAP8_uc010gzt.1_Silent_p.A171A|PRR5-ARHGAP8_uc003bey.1_Silent_p.A139A|PRR5-ARHGAP8_uc003bez.1_Silent_p.A53A|PRR5-ARHGAP8_uc011aqi.2_Intron|PRR5-ARHGAP8_uc011aqj.2_Intron|PRR5-ARHGAP8_uc003bfb.2_Silent_p.A148A|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5-ARHGAP8_uc003bfh.1_Silent_p.A47A	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						GCCAGCTGGCCCTGCTGCACT	0.672000														43			13		0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85530629	85530629	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:85530629C>T	uc011ccv.2	+	2	791	c.293C>T	c.(292-294)tCg>tTg	p.S98L		NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	98					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ACTATGATCTCGTTGTTTTTC	0.348000														103			49		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042300	74042300	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74042300G>A	uc002sjr.1	+	2	1071	c.950G>A	c.(949-951)aGc>aAc	p.S317N		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	317										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCCTTCAGTAGCAGAAATACC	0.468000														53			17		0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173873191	173873191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:173873191C>T	uc001gjt.3	-	6	1350	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	411					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.G411V(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GCTTCACTGCCTTCTTCATTT	0.468000														70			19		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95085657	95085657	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:95085657G>A	uc001ydp.3	+	2	928	c.769G>A	c.(769-771)Gag>Aag	p.E257K	SERPINA3_uc001ydo.4_Missense_Mutation_p.E282K|SERPINA3_uc001ydr.3_Intron|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.E257K|SERPINA3_uc001yds.3_Missense_Mutation_p.E257K	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	257					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.E257K(2)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CTTCCGGGACGAGGAGCTGTC	0.502000														43			26		0	0	1	0	0
IGFALS	3483	broad.mit.edu	37	16	1841107	1841107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1841107C>T	uc010uvn.2	-	1	1507	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	IGFALS_uc002cmy.3_Missense_Mutation_p.E438K|IGFALS_uc010uvo.2_Missense_Mutation_p.E72K	NM_001146006	NP_001139478	P35858	ALS_HUMAN	Homo sapiens insulin-like growth factor binding protein, acid labile subunit (IGFALS), transcript variant 1, mRNA.	438					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						AGGTCGAGCTCCAGCAGCTCC	0.682000														20			3		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389379	4389379	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4389379G>A	uc010qye.2	-	0	238	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I48I(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGGATAATGAAGATGAGCA	0.532000														28			13		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239161976	239161976	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:239161976G>A	uc002vyc.3	-	18	2925	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F	PER2_uc010znv.1_Silent_p.F896F	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	896	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AAGGGGCAGGGAAAGGTGGGG	0.652000														37			22		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140718688	140718688	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140718688G>A	uc003ljk.2	+	0	335	c.150G>A	c.(148-150)aaG>aaA	p.K50K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.K50K	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	50	Cadherin 1.				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)			ACATCGCCAAGGACTTGGGTT	0.617000											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		94			23		0	0	1	0	0
AK022382	0	broad.mit.edu	37	10	52389396	52389396	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:52389396C>T	uc001jjf.1	+	1		c.89C>T								Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082.																		CCCCAAGCTCCTCTATCAGAG	0.547000														53			25		0	0	1	0	0
FAIM2	23017	broad.mit.edu	37	12	50283911	50283911	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:50283911C>A	uc001rvj.2	-	7	737	c.552G>T	c.(550-552)ggG>ggT	p.G184G	FAIM2_uc001rvi.2_Silent_p.G138G	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA.	184					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						TGGACAGCATCCCAGTGAGGT	0.607000														62			8		3.09899e-07	3.10621e-07	1	1	0
TUBGCP5	114791	broad.mit.edu	37	15	22872489	22872489	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22872489C>T	uc001yuq.2	+	21	3148	c.3018C>T	c.(3016-3018)tcC>tcT	p.S1006S	TUBGCP5_uc001yur.4_Silent_p.S1006S	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	1006					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTAGAGGATCCTTTCCCCATT	0.323000														115			26		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35144275	35144275	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:35144275G>A	uc003teq.1	-	17	1940	c.833C>T	c.(832-834)tCc>tTc	p.S278F	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		GCATATCAAGGAAGCCATAAC	0.388000														40			12		0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23019757	23019757	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:23019757C>T	uc004daj.3	+	0	1680	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	528	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GATATAGTATCCCGAGGTCTT	0.378000														35			44		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121863	38121863	+	Silent	SNP	C	T	T	rs140427804		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38121863C>T	uc003atr.3	+	6	3571	c.3300C>T	c.(3298-3300)tcC>tcT	p.S1100S	TRIOBP_uc003atu.3_Silent_p.S928S|TRIOBP_uc003atq.1_Silent_p.S1100S|TRIOBP_uc003ats.1_Silent_p.S928S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1100					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.S1100S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGTGTCAGTCCCCCCAACACG	0.667000														177			69		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115226835	115226835	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:115226835C>T	uc001efe.2	-	4	679	c.631G>A	c.(631-633)Gag>Aag	p.E211K	AMPD1_uc001eff.2_Missense_Mutation_p.E207K	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	178					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)	Adenosine monophosphate(DB00131)	TAGAAGCTCTCATTTGCTACC	0.338000														88			51		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56035641	56035641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:56035641G>A	uc003pcs.3	-	4	1064	c.832C>T	c.(832-834)Cct>Tct	p.P278S	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.P278S|COL21A1_uc003pcu.1_Missense_Mutation_p.P278S	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	278	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TATGATGGAGGAAGACCTTCT	0.358000														25			5		0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76868887	76868887	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:76868887C>T	uc001jww.3	-	0	84	c.29G>A	c.(28-30)gGg>gAg	p.G10E	SAMD8_uc001jwx.2_5'Flank|SAMD8_uc001jwy.2_5'Flank|DUSP13_uc001jws.3_Missense_Mutation_p.G10E|DUSP13_uc001jwu.3_5'UTR|DUSP13_uc009xrs.3_5'UTR|DUSP13_uc001jwt.3_5'UTR|DUSP13_uc001jwv.3_5'UTR	NM_001007272	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 2, mRNA.	10						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GTCCTCTCCCCCCAGCTCTGG	0.637000														31			20		0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121469298	121469298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:121469298G>A	uc001tzj.1	-	2	610	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	OASL_uc001tzk.1_Missense_Mutation_p.R202W	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	202					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTAGTTGGCCGATGTTTCACG	0.587000														76			30		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47041551	47041551	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:47041551C>T	uc003cqp.3	+	26	4141	c.3962C>T	c.(3961-3963)cCc>cTc	p.P1321L	NBEAL2_uc010hjm.2_Intron|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1321	Pro-rich.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCAAGCCACCCACTGAGTCA	0.637000														62			20		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101720918	101720918	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:101720918C>T	uc001tia.1	+	25	3257	c.3101C>T	c.(3100-3102)tCa>tTa	p.S1034L		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1034					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAATCTGCTTCAGGCACCCGC	0.463000														101			38		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542276	55542276	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55542276A>G	uc003xsd.1	+	3	5982	c.5834A>G	c.(5833-5835)aAt>aGt	p.N1945S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1945					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATATTGAAAATTTCTTGGGT	0.353000														93			23		0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44470085	44470085	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44470085C>T	uc002oxx.2	+	5	759	c.431C>T	c.(430-432)tCt>tTt	p.S144F	ZNF221_uc010ejb.1_Missense_Mutation_p.S144F|ZNF221_uc010xws.1_Missense_Mutation_p.S144F	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	Homo sapiens zinc finger protein 221 (ZNF221), mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S144T(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AGGAACAGCTCTCAGTTCTTC	0.443000														110			27		0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026534	176026534	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176026534G>A	uc003meo.1	-	1	477	c.302C>T	c.(301-303)cCc>cTc	p.P101L	GPRIN1_uc021yif.1_Missense_Mutation_p.P101L	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	101						growth cone|plasma membrane		p.S100F(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACTCCTGGGGAGAGAAGCA	0.647000														50			22		0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52370317	52370317	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52370317C>T	uc010snn.2	+	2	615	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	ACVR1B_uc001rzl.3_Nonsense_Mutation_p.Q180*|ACVR1B_uc001rzm.3_Nonsense_Mutation_p.Q180*|ACVR1B_uc001rzn.3_Nonsense_Mutation_p.Q180*|ACVR1B_uc021qya.1_Nonsense_Mutation_p.Q128*	NM_020328	NP_064733	P36896	ACV1B_HUMAN	Homo sapiens activin A receptor, type IB (ACVR1B), transcript variant 3, mRNA.	180	GS.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	ATP binding|SMAD binding|activin receptor activity, type I|metal ion binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CAAGACGCTCCAGGATCTTGT	0.502000														113			16		0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66359609	66359610	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66359609_66359610GG>AA	uc001oiq.4	-	0	945_946	c.877_878CC>TT	c.(877-879)ccc>TTc	p.P293F	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	293										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCTGCTGGTGGGGGCCACAGGA	0.604000														73			35		0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46244896	46244896	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46244896G>A	uc003cph.1	-	1	980	c.909C>T	c.(907-909)ttC>ttT	p.F303F	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.F303F	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	303					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TCTCACCAACGAAGGCGTAGA	0.582000														30			17		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121981017	121981017	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121981017G>A	uc003eew.4	+	3	1573	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	CASR_uc003eev.4_Missense_Mutation_p.E379K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	379					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)	AGGTCACGAAGAAAGTGGCGA	0.493000														54			27		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684479	100684479	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100684479C>T	uc003uxp.1	+	2	9835	c.9782C>T	c.(9781-9783)tCa>tTa	p.S3261L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3261	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCAGTTCATCTCCTCCC	0.527000														469			214		0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48165182	48165182	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48165182C>T	uc010dbm.3	+	23	3458	c.2994C>T	c.(2992-2994)gcC>gcT	p.A998A	ITGA3_uc010dbl.3_Silent_p.A998A	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	998					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGCTGGTGGCCGTGGGTGCAG	0.642000														11			7		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38793807	38793807	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38793807G>A	uc003ciq.3	-	10	1658	c.1658C>T	c.(1657-1659)cCt>cTt	p.P553L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	553					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTGAGGAAGAGGGCTTCTAGG	0.612000														71			37		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43250678	43250678	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43250678G>A	uc003ouq.1	+	13	2479	c.2200G>A	c.(2200-2202)Gaa>Aaa	p.E734K	TTBK1_uc021yzs.1_Missense_Mutation_p.E22K	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	734	Glu-rich.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGGGAaggaggaagaggagga	0.577000														31			22		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325305	158325305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158325305C>T	uc001fse.3	+	2	864	c.571C>T	c.(571-573)Cct>Tct	p.P191S	CD1E_uc010pid.2_Missense_Mutation_p.P189S|CD1E_uc010pie.2_Missense_Mutation_p.P92S|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.P191S|CD1E_uc001fsf.3_Missense_Mutation_p.P191S|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Missense_Mutation_p.P92S|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.P191S|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	191	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)					TCACACCTGCCCTCGATTTCT	0.502000														45			4		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165179969	165179969	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:165179969G>A	uc001gcz.2	-	5	908	c.714C>T	c.(712-714)gtC>gtT	p.V238V	LMX1A_uc021pdz.1_Silent_p.V238V|LMX1A_uc021pdy.1_5'UTR|LMX1A_uc001gcw.2_5'UTR	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	238						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V238V(2)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					ACACCTGGACGACACGGACAC	0.483000														35			18		0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328209	48328209	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:48328209C>T	uc010rhu.2	+	0	435	c.435C>T	c.(433-435)gcC>gcT	p.A145A		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G144E(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TAGCGGGGGCCTCCTGGTTAG	0.562000														43			41		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39903468	39903468	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:39903468C>T	uc021olw.1	+	35	13337	c.13337C>T	c.(13336-13338)cCt>cTt	p.P4446L	MACF1_uc021ols.1_Missense_Mutation_p.P3941L|MACF1_uc021olt.1_Missense_Mutation_p.P3944L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6018					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAATTGAGCCTATGTTGGAG	0.423000														118			41		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189898822	189898822	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189898822C>T	uc002uqk.3	-	53	4749	c.4474G>A	c.(4474-4476)Gaa>Aaa	p.E1492K	COL5A2_uc010frx.3_Missense_Mutation_p.E1068K	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1492	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGCCCAATTTCAACGCCGAAT	0.463000														53			30		0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446228	29446228	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:29446228C>T	uc003aeg.3	+	7	2059	c.2059C>T	c.(2059-2061)Ctc>Ttc	p.L687F	ZNRF3_uc021wnq.1_Missense_Mutation_p.L587F	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	687						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						AGAAGTGGGGCTCGAGGCTTC	0.667000														73			8		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45802612	45802612	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45802612C>T	uc010gpt.1	+	8	1327	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	TRPM2_uc002zet.1_Silent_p.I409I|TRPM2_uc002zeu.1_Silent_p.I409I|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.I409I|TRPM2_uc002zex.1_Silent_p.I195I	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	409						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCCAAGATATCGTCCGGAGGC	0.562000														24			7		0	0	1	0	0
RNMT	8731	broad.mit.edu	37	18	13742516	13742516	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:13742516C>T	uc002ksk.1	+	6	1071	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	RNMT_uc002ksl.1_Missense_Mutation_p.S335L|RNMT_uc002ksm.1_Missense_Mutation_p.S335L|RNMT_uc010dlk.2_Missense_Mutation_p.S335L|RNMT_uc010xae.1_Non-coding_Transcript	NM_003799	NP_003790	O43148	MCES_HUMAN	Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA.	335					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	RNA binding|mRNA (guanine-N7-)-methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GAAACAGAATCATTTGGAAAT	0.328000														82			40		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136564711	136564711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136564711G>A	uc002tuu.1	-	8	4171	c.4160C>T	c.(4159-4161)tCt>tTt	p.S1387F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1387	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.S1387F(2)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATATGCAGCAGAAGCTGCACT	0.567000														81			16		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28710605	28710605	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28710605C>T	uc002kwn.3	-	15	2819	c.2557G>A	c.(2557-2559)Gaa>Aaa	p.E853K	DSC1_uc002kwm.3_3'UTR|BC042382_uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	853					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCTTTGCCTTCATAGTTATAC	0.428000														133			55		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2539368	2539368	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:2539368G>A	uc002wgf.1	+	2	364	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	TMC2_uc002wgg.1_Missense_Mutation_p.E101K|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	117	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCCAAAGAGGGAAAAGGAGAT	0.652000														25			4		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89391179	89391179	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89391179G>A	uc010upo.1	+	8	2016	c.1642G>A	c.(1642-1644)Gac>Aac	p.D548N	ACAN_uc002bmx.3_Missense_Mutation_p.D548N|ACAN_uc010upp.1_Missense_Mutation_p.D548N|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	548					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)			ATGCGTGGGTGACAAGGACAG	0.587000														110			35		0	0	1	0	0
OXCT2	64064	broad.mit.edu	37	1	40236066	40236066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:40236066C>T	uc001ceb.1	-	0	955	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	Homo sapiens 3-oxoacid CoA transferase 2 (OXCT2), mRNA.	288					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	TCTCCATCTTCCTCTTTCAGG	0.517000											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		241			32		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168180021	168180021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:168180021C>T	uc010jjg.3	-	17	2332	c.1912G>A	c.(1912-1914)Gac>Aac	p.D638N	SLIT3_uc003mab.3_Missense_Mutation_p.D638N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	638					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCGATTGTCATAGAGGGAC	0.572000														37			12		0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43708058	43708058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43708058C>T	uc011aev.2	+	8	1140	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	ABCG1_uc002zam.3_Missense_Mutation_p.R323W|ABCG1_uc002zan.3_Missense_Mutation_p.R347W|ABCG1_uc002zao.3_Missense_Mutation_p.R342W|ABCG1_uc002zap.3_Missense_Mutation_p.R345W|ABCG1_uc002zaq.3_Missense_Mutation_p.R345W|ABCG1_uc002zar.3_Missense_Mutation_p.R356W|ABCG1_uc010gpb.2_5'UTR	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	345					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GAGAGCGGTTCGGGAGGGCAT	0.602000														218			46		0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35366948	35366948	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35366948C>T	uc003zwr.3	+	10	1464	c.1172C>T	c.(1171-1173)cCa>cTa	p.P391L	UNC13B_uc010mkl.1_Nonsense_Mutation_p.Q399*|UNC13B_uc003zwq.3_Missense_Mutation_p.P391L|UNC13B_uc010mkm.1_Non-coding_Transcript	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	391					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TTAAAGATTCCAGATGATGGT	0.448000														55			12		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169801120	169801120	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169801120G>A	uc002ueo.1	-	20	2731	c.2605C>T	c.(2605-2607)Caa>Taa	p.Q869*	ABCB11_uc010zda.1_Nonsense_Mutation_p.Q311*|ABCB11_uc010zdb.1_Nonsense_Mutation_p.Q345*	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	869	ABC transmembrane type-1 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTCACCCCTTGAACTTGGGAA	0.433000														226			23		0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	193059173	193059173	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:193059173G>A	uc002utc.3	-	0	472	c.78C>T	c.(76-78)ccC>ccT	p.P26P	TMEFF2_uc002utd.1_Silent_p.P26P	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	26						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			GTAGCATGACGGGCAGCAGCA	0.597000														72			27		0	0	1	0	0
ME3	10873	broad.mit.edu	37	11	86382822	86382822	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:86382822C>T	uc001pbz.3	-	0	419	c.165G>A	c.(163-165)agG>agA	p.R55R	ME3_uc001pca.3_Silent_p.R55R|ME3_uc009yvk.3_Silent_p.R55R|ME3_uc010rtr.1_Non-coding_Transcript	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	55					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GATGAGGGTTCCTGGTGACAT	0.682000														50			23		0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8051146	8051146	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:8051146C>T	uc010qbd.2	+	4	2421	c.2421C>T	c.(2419-2421)ctC>ctT	p.L807L		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	807	Pro-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						gccccatgctcgtcagccctg	0.806000														7			5		0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615680	55615680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55615680G>A	uc010spf.2	+	0	872	c.872G>A	c.(871-873)gGc>gAc	p.G291D		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G291V(2)|p.Y290Y(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						ATCATCTACGGCCTGAGGAAC	0.448000														58			24		0	0	1	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32918430	32918430	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32918430G>A	uc003ocm.2	-	1	325	c.239C>T	c.(238-240)cCt>cTt	p.P80L	HLA-DMA_uc011dqm.1_Missense_Mutation_p.P80L	NM_006120	NP_006111	Q31604	Q31604_HUMAN	Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA.	80						MHC class II protein complex|integral to membrane				kidney(1)|large_intestine(2)|lung(8)	11						GGGCAGGCGAGGCACCCGAGT	0.537000														110			25		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098663	144098663	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:144098663G>A	uc022aoj.1	-	3	320	c.320C>T	c.(319-321)gCt>gTt	p.A107V		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	107					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGGTCCTGCAGCCAGGGGCTT	0.607000														59			7		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155212010	155212010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:155212010C>T	uc021xge.1	-	15	2343	c.2066G>A	c.(2065-2067)cGa>cAa	p.R689Q	PLCH1_uc021xgd.1_Missense_Mutation_p.R689Q|PLCH1_uc021xgf.1_Missense_Mutation_p.R671Q	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	689	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTGCATCATTCGTCCTTCAGA	0.418000														73			21		0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97475240	97475240	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:97475240G>A	uc002swx.3	+	6	2412	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K	CNNM4_uc010yuy.2_3'UTR	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	772					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AGCCTCCCACGAGAATGCCAT	0.612000														28			14		0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12203533	12203533	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:12203533G>A	uc003bwm.3	+	9	1011	c.847G>A	c.(847-849)Gac>Aac	p.D283N	SYN2_uc003bwl.1_Missense_Mutation_p.D283N|SYN2_uc003bwn.3_5'UTR|TIMP4_uc003bwo.3_5'Flank	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	287					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AAACCACTACGACTTCCAGGA	0.527000														29			21		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178555117	178555117	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178555117G>A	uc003mjw.3	-	16	2562	c.2460C>T	c.(2458-2460)gtC>gtT	p.V820V		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	820	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCACCGGGATGACCTGTGCCA	0.582000														46			16		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82456472	82456472	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:82456472G>A	uc001dit.4	+	20	4036	c.3855G>A	c.(3853-3855)aaG>aaA	p.K1285K	LPHN2_uc001dis.3_Silent_p.K265K|LPHN2_uc001diu.3_Silent_p.K1285K|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Silent_p.K912K	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1341					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AACCCCAGAAGAAAGTGAAGT	0.517000														98			46		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657088	143657088	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143657088G>A	uc003wds.1	+	0	69	c.25G>A	c.(25-27)Gtg>Atg	p.V9M		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W8L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CCAGACTTGGGTGAGTGAATT	0.428000														159			15		0	0	1	0	0
KIFC2	90990	broad.mit.edu	37	8	145692663	145692663	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145692663G>A	uc003zcz.3	+	3	473	c.408G>A	c.(406-408)ggG>ggA	p.G136G	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	136					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCCCCAGGGGGAGGCAGGCCC	0.612000											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			45		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90049587	90049587	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:90049587C>A	uc003kju.3	+	53	11414	c.11318C>A	c.(11317-11319)cCt>cAt	p.P3773H	GPR98_uc003kjt.3_Missense_Mutation_p.P1479H|GPR98_uc003kjv.3_Missense_Mutation_p.P1373H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3773					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATGACTCACCTTTTGGCTTG	0.428000														26			5		0.000602214	0.000602873	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103573705	103573705	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:103573705C>T	uc001dum.3	-	0	348	c.30G>A	c.(28-30)acG>acA	p.T10T	COL11A1_uc001dul.3_Silent_p.T10T|COL11A1_uc001dun.3_Silent_p.T10T|COL11A1_uc009weh.3_Silent_p.T10T	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	10					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)		GCCACCGTTTCGTTTTCCACC	0.522000														43			18		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784861	82784861	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82784861G>A	uc003uhx.2	-	1	1385	c.1096C>T	c.(1096-1098)Ctt>Ttt	p.L366F	PCLO_uc003uhv.2_Missense_Mutation_p.L366F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	326	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P365_L366insRLSWRLSRTK(2)		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						GCAGGACCAAGAGGCTGAGCT	0.577000														38			8		0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43319611	43319611	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:43319611C>T	uc010dnk.3	+	8	1320	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	SLC14A1_uc002lbi.4_Silent_p.L178L|SLC14A1_uc010xcn.2_Silent_p.L310L|SLC14A1_uc002lbf.4_Silent_p.L310L|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Silent_p.L205L|SLC14A1_uc002lbh.4_Silent_p.L202L|SLC14A1_uc002lbj.4_Silent_p.L366L|SLC14A1_uc002lbk.4_Silent_p.L310L|SLC14A1_uc021ujg.1_Missense_Mutation_p.S261F	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	310						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						AAACCCACCTCCTGGCTCTTG	0.537000														69			28		0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55926894	55926894	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55926894G>T	uc010rja.2	-	0	900	c.900C>A	c.(898-900)gcC>gcA	p.A300A		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GCTTATAGAAGGCATTTTTCA	0.279000														70			13		3.27435e-08	3.28373e-08	1	1	0
RELN	5649	broad.mit.edu	37	7	103137058	103137058	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:103137058C>T	uc022ajr.1	-	55	9268	c.9108G>A	c.(9106-9108)gtG>gtA	p.V3036V	RELN_uc022ajq.1_Silent_p.V3036V|RELN_uc010liz.3_Silent_p.V3036V	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3036					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)		GAGCACGCTCCACCCCAGAGA	0.483000														72			20		0	0	1	0	0
KCTD4	386618	broad.mit.edu	37	13	45768148	45768148	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:45768148C>T	uc001uzx.4	-	1	959	c.555G>A	c.(553-555)gaG>gaA	p.E185E	GTF2F2_uc001uzw.3_Intron|KCTD4_uc021rjf.1_Silent_p.E185E	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 4 (KCTD4), mRNA.	185						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TTGAAAACTCCTCTGGAAATC	0.363000														107			51		0	0	1	0	0
S100A3	6274	broad.mit.edu	37	1	153520173	153520173	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153520173G>A	uc001fca.1	-	2	374	c.291C>T	c.(289-291)ccC>ccT	p.P97P	S100A4_uc001fby.3_5'Flank|S100A4_uc001fbz.3_5'Flank|AK307246_uc009wog.1_Intron	NM_002960	NP_002951	P33764	S10A3_HUMAN	Homo sapiens S100 calcium binding protein A3 (S100A3), mRNA.	97							calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGAGCAGGGGGGCTCTGAGG	0.622000														91			17		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86590635	86590635	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:86590635C>T	uc001dlj.3	-	2	1459	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.E462K	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	462					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TAGCTATTTTCGATGGGATAA	0.368000														68			16		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31743748	31743748	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31743748G>A	uc011dog.2	-	2	744	c.506C>T	c.(505-507)gCc>gTc	p.A169V	VWA7_uc003nxd.2_Intron|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	169						extracellular region											CACCTGCAGGGCATGAAGTGC	0.657000														145			75		0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681454	3681454	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:3681454C>T	uc001lye.1	+	2	806	c.705C>T	c.(703-705)ttC>ttT	p.F235F	ART1_uc009yeb.1_Silent_p.F235F	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	235					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	ACTCCTTCTTCCCTGGAGAGG	0.612000														64			34		0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53070220	53070220	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53070220C>T	uc001sau.1	-	6	1373	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K	KRT1_uc001sav.1_Silent_p.K438K	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	438	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TCTTGGCATCCTTGAGGGCAT	0.537000														65			23		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105905313	105905313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105905313G>A	uc001kxw.3	-	30	3981	c.3865C>T	c.(3865-3867)Cgc>Tgc	p.R1289C	WDR96_uc009xxq.3_Missense_Mutation_p.R568C	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1289										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTAAAGCTGCGATCCATAACC	0.368000														43			11		0	0	1	0	0
NOL10	79954	broad.mit.edu	37	2	10712207	10712207	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:10712207G>A	uc002raq.2	-	20	2182	c.2057C>T	c.(2056-2058)tCg>tTg	p.S686L	NOL10_uc010yje.1_Missense_Mutation_p.S660L|NOL10_uc010yjf.1_Missense_Mutation_p.S636L|NOL10_uc002rap.2_Missense_Mutation_p.S636L	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	Homo sapiens nucleolar protein 10 (NOL10), mRNA.	686						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TCAATGAAACGACCGTCCTCT	0.498000														166			67		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49063860	49063860	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:49063860G>A	uc003gyv.3	+	15	2235	c.2053G>A	c.(2053-2055)Gaa>Aaa	p.E685K	CWH43_uc011bzl.2_Missense_Mutation_p.E658K	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	685					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ACACAATTATGAAAACAACCA	0.259000														39			20		0	0	1	0	0
PION	54103	broad.mit.edu	37	7	76958702	76958702	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:76958702C>T	uc003ugf.3	-	20	1760	c.1681G>A	c.(1681-1683)Gga>Aga	p.G561R	PION_uc003ugd.3_5'Flank|PION_uc003ugg.1_3'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	561					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTCTTTTTCCTGTTTTCTAG	0.378000														40			15		0	0	1	0	0
BATF3	55509	broad.mit.edu	37	1	212860311	212860311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:212860311C>T	uc001hjl.2	-	2	429	c.206G>A	c.(205-207)aGc>aAc	p.S69N		NM_018664	NP_061134	Q9NR55	BATF3_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like 3 (BATF3), mRNA.	69	Leucine-zipper.				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781)		TTGCTCCAGGCTCTCATATTC	0.557000														136			69		0	0	1	0	0
GRINA	2907	broad.mit.edu	37	8	145066418	145066418	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145066418C>T	uc003zan.1	+	4	865	c.699C>T	c.(697-699)gtC>gtT	p.V233V	GRINA_uc003zao.1_Silent_p.V233V|GRINA_uc003zap.1_Silent_p.V233V	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	233						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCAGTCGGTCCTGACCGCCA	0.627000														41			18		0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627648	21627648	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:21627648G>A	uc004czx.2	+	19	3085	c.2605G>A	c.(2605-2607)Gat>Aat	p.D869N	CNKSR2_uc004czw.3_Missense_Mutation_p.D869N|CNKSR2_uc011mjn.2_Missense_Mutation_p.D820N|CNKSR2_uc011mjo.2_Missense_Mutation_p.D839N|CNKSR2_uc004czy.3_Missense_Mutation_p.D461N	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	869					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						TGACCCACAGGATGACGTGCA	0.522000														21			34		0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8069746	8069746	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:8069746C>T	uc002knn.4	+	7	1698	c.1195C>T	c.(1195-1197)Cgc>Tgc	p.R399C	PTPRM_uc010dkv.3_Missense_Mutation_p.R399C|PTPRM_uc010wzl.2_Missense_Mutation_p.R186C	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	399	Fibronectin type-III 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AATCACTATCCGCTGGGAGCC	0.423000														48			18		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157903591	157903591	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:157903591C>T	uc003wno.3	-	9	1694	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K	PTPRN2_uc003wnp.3_Missense_Mutation_p.E508K|PTPRN2_uc003wnq.3_Intron|PTPRN2_uc003wnr.3_Missense_Mutation_p.E487K|PTPRN2_uc011kwa.2_Missense_Mutation_p.E548K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	525						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CGCCTTCCTTCCTCGGGGCGC	0.667000														5			4		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143027960	143027960	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143027960C>T	uc003wcr.1	+	7	1036	c.949C>T	c.(949-951)Cga>Tga	p.R317*	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Silent_p.F112F	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	317			R -> Q (in THD).		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTTTGTGTTTCGAGTGCTGGC	0.517000														88			38		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184099748	184099748	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:184099748C>T	uc003fov.3	+	5	885	c.639C>T	c.(637-639)ttC>ttT	p.F213F	CHRD_uc003fow.3_5'UTR|CHRD_uc003fox.3_Silent_p.F213F|CHRD_uc003foy.3_5'UTR|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'Flank	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	213	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGATCCGCTTCTCAGACTCCA	0.612000														28			14		0	0	1	0	0
PRCC	5546	broad.mit.edu	37	1	156756843	156756843	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156756843C>T	uc001fqa.3	+	2	1250	c.960C>T	c.(958-960)ccC>ccT	p.P320P		NM_005973	NP_005964	Q92733	PRCC_HUMAN	Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA.	320					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAATGCCCCCCTTGAATTCA	0.572000			T	TFE3	papillary renal									168			82		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13363279	13363279	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:13363279G>A	uc003bxv.1	-	35	5055	c.4972C>T	c.(4972-4974)Ctg>Ttg	p.L1658L		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1658					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTCATGCTCAGGTGCTTCCGC	0.592000														298			41		0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44596418	44596418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44596418C>T	uc001clp.3	+	2	1218	c.1160C>T	c.(1159-1161)gCt>gTt	p.A387V		NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	387					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CCTCCTGCTGCTGGTCCTTAG	0.507000														72			8		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314291	54314291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54314291C>T	uc002qcj.4	-	2	842	c.622G>A	c.(622-624)Gag>Aag	p.E208K	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.E208K|NLRP12_uc002qci.4_Missense_Mutation_p.E208K|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.E208K	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	208					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.P207T(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CGCGGTGGCTCGGGGCGCTCC	0.647000														89			29		0	0	1	0	0
DHRS4	10901	broad.mit.edu	37	14	24424253	24424253	+	Silent	SNP	C	T	T	rs138564114	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24424253C>T	uc001wla.3	+	1	171	c.138C>T	c.(136-138)ttC>ttT	p.F46F	DHRS4-AS1_uc001wkz.2_5'Flank|DHRS4-AS1_uc001wky.2_5'Flank|DHRS4-AS1_uc001wkx.2_5'Flank|DHRS4-AS1_uc010akx.1_Non-coding_Transcript|DHRS4_uc010aky.2_Silent_p.F46F|DHRS4_uc001wlb.3_Silent_p.F46F|DHRS4_uc010akz.3_Silent_p.F46F|DHRS4_uc001wld.4_Silent_p.F46F|DHRS4_uc001wle.4_Silent_p.F46F|DHRS4_uc001wlc.4_Silent_p.F46F	NM_021004	NP_066284	Q9BTZ2	DHRS4_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 4 (DHRS4), mRNA.	46						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	GGATCGGCTTCGCCATCGCCC	0.617000														157			10		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48964347	48964347	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48964347C>T	uc010kyv.1	+	0	191	c.79C>T	c.(79-81)Cgt>Tgt	p.R27C						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		CGATCGCCTTCGTTTTGCCAT	0.527000														118			11		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180988	65180988	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:65180988G>A	uc002lke.1	-	1	2112	c.888C>T	c.(886-888)tcC>tcT	p.S296S	LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Silent_p.S296S	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	286						integral to membrane	isomerase activity|sulfotransferase activity	p.S296S(2)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ACTGTGTGACGGATTTAGCTG	0.388000														90			53		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131848526	131848526	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:131848526C>T	uc003ytd.4	-	11	2928	c.2672G>A	c.(2671-2673)gGa>gAa	p.G891E	ADCY8_uc010mds.3_Missense_Mutation_p.G760E	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	891					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CACTTACTCTCCACTGTGGTT	0.502000										HNSCC(32;0.087)				63			10		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278912	36278912	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36278912C>T	uc002obs.2	+	20	3106	c.2962C>T	c.(2962-2964)Cac>Tac	p.H988Y	ARHGAP33_uc002obt.2_Missense_Mutation_p.H985Y|ARHGAP33_uc002obv.1_Missense_Mutation_p.H737Y	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1149					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TCCCCCTGACCACCTTGGCTA	0.667000														71			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215640	140215640	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140215640G>A	uc003lhq.2	+	0	1672	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	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_uc011dac.2_Missense_Mutation_p.E558K	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	572	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAGAACGACAA	0.692000														129			56		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667561	157667561	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157667561G>A	uc001fqz.4	-	4	739	c.447C>T	c.(445-447)atC>atT	p.I149I	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Silent_p.I149I|FCRL3_uc001frc.1_Silent_p.I149I	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	149	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity	p.I149I(2)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AATTCACTGTGATCTTCTCTA	0.338000														118			51		0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729268	41729268	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:41729268C>T	uc003thq.3	-	1	1496	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	INHBA_uc003thr.3_Missense_Mutation_p.E421K	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	421					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.V420M(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCACACTCCTCCACGATCATG	0.463000										TSP Lung(11;0.080)				83			39		0	0	1	0	0
MRPL51	51258	broad.mit.edu	37	12	6601615	6601615	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6601615G>A	uc001qom.2	-	2	378	c.209C>T	c.(208-210)cCc>cTc	p.P70L	NCAPD2_uc009zen.1_5'Flank|NCAPD2_uc001qoo.2_5'Flank|NCAPD2_uc010sfd.1_5'Flank	NM_016497	NP_057581	Q4U2R6	RM51_HUMAN	Homo sapiens mitochondrial ribosomal protein L51 (MRPL51), nuclear gene encoding mitochondrial protein, mRNA.	70					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						CAGTTCTTTGGGGTGCTTTTC	0.443000														156			98		0	0	1	0	0
DEM1	64789	broad.mit.edu	37	1	40980428	40980428	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:40980428C>T	uc001cfp.3	+	2	417	c.212C>T	c.(211-213)tCa>tTa	p.S71L	DEM1_uc001cfq.3_Missense_Mutation_p.S71L|DEM1_uc001cfr.3_Missense_Mutation_p.S71L|DEM1_uc021omb.1_Missense_Mutation_p.S71L	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	Homo sapiens defects in morphology 1 homolog (S. cerevisiae) (DEM1), mRNA.	71							DNA binding|exonuclease activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|urinary_tract(2)	10						GATATATTATCACCCATGGAG	0.428000														147			41		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71778763	71778763	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71778763G>A	uc010fen.3	+	18	1860	c.1719G>A	c.(1717-1719)cgG>cgA	p.R573R	DYSF_uc010fei.3_Silent_p.R572R|DYSF_uc010feh.3_Silent_p.R541R|DYSF_uc002sig.4_Silent_p.R541R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.R586R|DYSF_uc010fee.3_Silent_p.R555R|DYSF_uc010fef.3_Silent_p.R572R|DYSF_uc002sie.3_Silent_p.R555R|DYSF_uc010feo.3_Silent_p.R587R|DYSF_uc010fej.3_Silent_p.R542R|DYSF_uc010fel.3_Silent_p.R542R|DYSF_uc010fem.3_Silent_p.R556R|DYSF_uc002sif.3_Silent_p.R556R|DYSF_uc010fek.3_Silent_p.R573R	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	555						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATCGTGGCCGGCTTCTGCTCT	0.637000														15			6		0	0	1	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2988351	2988351	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2988351C>T	uc002csd.3	+	7	2307	c.1944C>T	c.(1942-1944)caC>caT	p.H648H	FLYWCH1_uc002csb.3_Silent_p.H647H|FLYWCH1_uc002csc.3_Silent_p.H647H|FLYWCH1_uc010bsv.3_Silent_p.H372H|FLYWCH1_uc002cse.3_Silent_p.H103H	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	Homo sapiens FLYWCH-type zinc finger 1 (FLYWCH1), transcript variant 1, mRNA.	648						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						CCCAGGGCCACCGCATCATGG	0.682000														17			8		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15973617	15973617	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:15973617G>A	uc002gpo.3	-	30	4644	c.4375C>T	c.(4375-4377)Ctt>Ttt	p.L1459F	NCOR1_uc002gpn.3_Missense_Mutation_p.L1475F|NCOR1_uc002gpp.1_Missense_Mutation_p.L1366F|NCOR1_uc002gpm.3_5'Flank|NCOR1_uc010vwb.2_Missense_Mutation_p.L43F|NCOR1_uc010coy.3_Missense_Mutation_p.L367F|NCOR1_uc010vwc.2_Missense_Mutation_p.L270F	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1459	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTGGACCTAAGAACGGAGGGG	0.522000														113			46		0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183756736	183756736	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183756736C>T	uc011bqv.2	+	7	1338	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	HTR3D_uc003fmj.3_Silent_p.I271I|HTR3D_uc011bqu.2_Silent_p.I396I|HTR3D_uc010hxp.3_Silent_p.I225I	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.	446						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCTCCATCATCACCGTCATAT	0.567000														126			32		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76451897	76451897	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76451897C>T	uc010dhp.2	-	62	10124	c.9999G>A	c.(9997-9999)tcG>tcA	p.S3333S	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGATGTTTTCCGATGCTAATC	0.557000														35			8		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30024717	30024717	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:30024717G>A	uc001zcr.3	-	14	2412	c.1937C>T	c.(1936-1938)cCt>cTt	p.P646L	TJP1_uc010azl.3_Missense_Mutation_p.P634L|TJP1_uc001zcq.3_Missense_Mutation_p.P650L|TJP1_uc001zcs.3_Missense_Mutation_p.P646L	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	646	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AATGGTTACAGGCCTCAGAAA	0.368000														83			19		0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113084920	113084920	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:113084920C>T	uc003ead.2	-	18	2748	c.2681G>A	c.(2680-2682)aGg>aAg	p.R894K	WDR52_uc003eae.2_Missense_Mutation_p.R894K	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	894										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CATGTCTTTCCTTAGCATAAA	0.303000														129			44		0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5567942	5567942	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:5567942G>A	uc003sot.4	-	3	856	c.772C>T	c.(772-774)Cct>Tct	p.P258S	ACTB_uc003sor.4_Missense_Mutation_p.P136S|ACTB_uc003soq.4_Missense_Mutation_p.P136S	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	258					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AGTGCCTCAGGGCAGCGGAAC	0.617000														94			36		0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68699036	68699036	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:68699036G>A	uc003hdq.3	-	6	643	c.578C>T	c.(577-579)gCt>gTt	p.A193V	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc003hdp.3_5'UTR|TMPRSS11D_uc011caj.2_Missense_Mutation_p.A76V	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	193	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCCCTCCTCAGCCTCAGTGCC	0.522000														151			47		0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	868150	868150	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:868150G>A	uc002lqd.1	-	15	2736	c.2585C>T	c.(2584-2586)cCc>cTc	p.P862L	MED16_uc010drw.2_3'UTR|MED16_uc002lqe.3_3'UTR|MED16_uc002lqf.3_3'UTR|MED16_uc021umc.1_Non-coding_Transcript	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	862					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GGGGGTCCTGGGAGAGTGGTG	0.682000														17			5		0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156711020	156711020	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:156711020C>T	uc021xgh.1	+	8	1177	c.1063C>T	c.(1063-1065)Ctt>Ttt	p.L355F	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	64										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AACCAAAACTCTTCTGAATCA	0.323000														112			10		0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88417801	88417801	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:88417801C>T	uc010qmk.1	+	3	563	c.336C>T	c.(334-336)ctC>ctT	p.L112L	OPN4_uc001kdp.3_Silent_p.L112L|OPN4_uc001kdq.3_Silent_p.L101L|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	101					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GCAGAAGCCTCCGGACACCTG	0.562000														92			7		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35183432	35183432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:35183432C>T	uc002yta.1	+	20	2741	c.2473C>T	c.(2473-2475)Ccc>Tcc	p.P825S	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Missense_Mutation_p.P704S|ITSN1_uc002ysy.3_Missense_Mutation_p.P820S|ITSN1_uc002ysx.3_Missense_Mutation_p.P783S|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.P820S|ITSN1_uc010gmg.3_Missense_Mutation_p.P783S|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.P825S|ITSN1_uc010gmi.3_Missense_Mutation_p.P788S|ITSN1_uc002ytb.1_Missense_Mutation_p.P820S|ITSN1_uc002ytc.1_Missense_Mutation_p.P820S|ITSN1_uc010gmk.3_Missense_Mutation_p.P788S|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.P820S|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Missense_Mutation_p.P759S|ITSN1_uc021wip.1_Missense_Mutation_p.P714S|ITSN1_uc002ytf.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	825					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGCCCCTGCCCCCAAACTGGC	0.552000														105			23		0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19375544	19375544	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19375544G>A	uc002nmd.1	-	9	1113	c.1063C>T	c.(1063-1065)Ctt>Ttt	p.L355F	HAPLN4_uc002nmb.3_5'Flank|HAPLN4_uc002nmc.3_Intron	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Homo sapiens transmembrane 6 superfamily member 2 (TM6SF2), mRNA.	355						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GGCCACTGAAGGCAACGGTAG	0.622000														45			32		0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233655986	233655986	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233655986C>T	uc002vtj.4	+	13	1442	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L	GIGYF2_uc010zmj.1_Missense_Mutation_p.P371L|GIGYF2_uc002vtg.2_Missense_Mutation_p.P365L|GIGYF2_uc002vti.4_Missense_Mutation_p.P371L|GIGYF2_uc002vtk.4_Missense_Mutation_p.P371L|GIGYF2_uc002vth.4_Missense_Mutation_p.P365L|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Missense_Mutation_p.P202L	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	371					cell death		protein binding	p.A391P(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAGGAAACTCCCCAGACCTCA	0.438000														78			36		0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201355491	201355491	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201355491G>A	uc001gwm.3	-	2	1233	c.998C>T	c.(997-999)gCc>gTc	p.A333V	LAD1_uc009wzu.1_Missense_Mutation_p.A355V	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	333						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GAGGCGGGAGGCCACAGTCGG	0.667000														10			4		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4150369	4150369	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:4150369G>A	uc003smx.3	+	22	3538	c.3399G>A	c.(3397-3399)ctG>ctA	p.L1133L	SDK1_uc010kso.3_Silent_p.L409L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1133	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCAGATGCTGGAGATCCCAA	0.557000														40			23		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924606	70924606	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70924606G>A	uc021rvq.1	+	0	390	c.390G>A	c.(388-390)ggG>ggA	p.G130G	ADAM21_uc001xmd.3_Silent_p.G130G	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	130					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTTGTTTTGGGGGCTTTCGAG	0.453000														109			39		0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57872937	57872937	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57872937C>T	uc001sod.3	-	4	659	c.466G>A	c.(466-468)Gag>Aag	p.E156K	ARHGAP9_uc001snz.3_5'Flank|ARHGAP9_uc001soa.3_5'Flank|ARHGAP9_uc001sob.3_Missense_Mutation_p.E85K|ARHGAP9_uc001soc.3_Missense_Mutation_p.E85K|ARHGAP9_uc001soe.1_Missense_Mutation_p.E164K|ARHGAP9_uc010sro.1_Missense_Mutation_p.E85K	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	85					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			ATGGATTCCTCTATCATATAG	0.557000														118			10		0	0	1	0	0
SDF2L1	23753	broad.mit.edu	37	22	21998344	21998345	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:21998344_21998345CC>TT	uc002zvf.3	+	2	630_631	c.546_547CC>TT	c.(544-549)atccgt>atTTgt	p.R183C		NM_022044	NP_071327	Q9HCN8	SDF2L_HUMAN	Homo sapiens stromal cell-derived factor 2-like 1 (SDF2L1), mRNA.	183	MIR 3.					endoplasmic reticulum lumen|membrane				prostate(1)	1	Colorectal(54;0.105)					GAAGCCCCATCCGTGGGCAGCA	0.604000											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			15		0	0	1	0	0
HEYL	26508	broad.mit.edu	37	1	40092724	40092724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:40092724G>A	uc001cdp.3	-	4	493	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	HEYL_uc010oiw.2_Missense_Mutation_p.R120C	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA.	148	Orange.				Notch signaling pathway|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAGAGAAGGCGAATCCGGACG	0.627000														48			18		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48428731	48428731	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48428731G>A	uc001jfb.3	-	1	1583	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	GDF10_uc009xnp.3_Silent_p.F384F|GDF10_uc009xnq.2_Silent_p.F385F	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	385					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.F385F(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGATGTCTGCGAAGTCCACCT	0.552000														54			34		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202114	140202114	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140202114G>A	uc003lhl.2	+	0	754	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	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_uc003lhk.1_Missense_Mutation_p.E252K|PCDHAC2_uc003lhj.1_Missense_Mutation_p.E252K	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	268	Cadherin 2.				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)			CAGATTGTTGGAAAATGCACC	0.363000														104			25		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81697929	81697929	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81697929G>A	uc001kbh.3	-	7	850	c.807C>T	c.(805-807)ggC>ggT	p.G269G		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	269	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GTTTTACAAAGCCTGCTGTCT	0.542000														91			32		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206580936	206580936	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:206580936C>T	uc002vaw.3	+	2	1062	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	NRP2_uc002vat.3_Missense_Mutation_p.R91W|NRP2_uc002vau.3_Missense_Mutation_p.R91W|NRP2_uc002vav.3_Missense_Mutation_p.R91W|NRP2_uc002vax.3_Missense_Mutation_p.R91W|NRP2_uc002vay.3_Missense_Mutation_p.R91W|NRP2_uc010fud.3_Missense_Mutation_p.R91W	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	91	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TATCGAGATTCGGGATGGGGA	0.542000														112			49		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51743021	51743021	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:51743021C>T	uc010hlv.3	+	1	261	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	8					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GCTTGCGCTCCTGGCACTGCT	0.632000														19			7		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197298091	197298091	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197298091G>A	uc001gtz.3	+	1	819	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	CRB1_uc010poz.2_Missense_Mutation_p.E135K|CRB1_uc001gty.2_Missense_Mutation_p.E204K|CRB1_uc009wza.3_Missense_Mutation_p.E204K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.E204K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	204	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATGCCTCAATGAAATAGGAAG	0.443000														38			15		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26736598	26736598	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26736598G>A	uc003acb.3	+	10	2408	c.2212_splice	c.e10+1	p.E738_splice	SEZ6L_uc003acd.3_Splice_Site_p.E738_splice|SEZ6L_uc011akd.2_Splice_Site_p.E738_splice|SEZ6L_uc003ace.3_Splice_Site_p.E738_splice|SEZ6L_uc011akc.2_Splice_Site_p.E738_splice|SEZ6L_uc003acc.3_Splice_Site_p.E738_splice|SEZ6L_uc003acf.1_Splice_Site_p.E511_splice|SEZ6L_uc010gvc.1_Splice_Site_p.E511_splice	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	738	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GAACTACATAGGTAGGTGTCT	0.428000														49			7		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533831	31533831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31533831C>T	uc003aka.3	-	3	1060	c.931G>A	c.(931-933)Ggg>Agg	p.G311R		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	311					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TGTGGTGGCCCCTTCCGAAGG	0.647000														138			59		0	0	1	0	0
APBB3	10307	broad.mit.edu	37	5	139938380	139938380	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:139938380G>A	uc021yeh.1	-	12	1610	c.1251C>T	c.(1249-1251)gcC>gcT	p.A417A	SRA1_uc003lfz.3_5'Flank|SRA1_uc021yef.1_5'Flank|SRA1_uc003lga.3_5'Flank|SRA1_uc010jfm.3_5'Flank|APBB3_uc003lgb.1_Silent_p.A194A|APBB3_uc003lgc.1_Silent_p.A194A|APBB3_uc003lgd.1_Silent_p.A422A|APBB3_uc010jfp.1_Non-coding_Transcript|APBB3_uc011czi.1_Silent_p.A194A|APBB3_uc003lge.1_Silent_p.A415A|APBB3_uc021yeg.1_Silent_p.A424A|APBB3_uc003lgf.1_Non-coding_Transcript	NM_133173	NP_573419	O95704	APBB3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 3 (APBB3), transcript variant 2, mRNA.	417	PID 2.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGCAGAGGCCACAAGAC	0.627000														50			19		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166959017	166959017	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:166959017G>A	uc001gdy.1	+	1	247	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	MAEL_uc021peh.1_Missense_Mutation_p.R3Q|MAEL_uc001gdz.1_Intron|MAEL_uc009wvf.1_5'Flank	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	59					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GAAATGGCTCGAGAATGGAGG	0.527000														32			11		0	0	1	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65209693	65209693	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65209693C>T	uc002aoa.3	+	2	276	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F	ANKDD1A_uc002anx.1_Missense_Mutation_p.L83F|ANKDD1A_uc002any.3_5'UTR|ANKDD1A_uc002anz.3_Intron|ANKDD1A_uc002aob.3_Missense_Mutation_p.L53F	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.	83					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GGTAGGGGCCCTCACAGAGGC	0.637000														10			4		0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63676695	63676695	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63676695G>A	uc001nxw.3	+	18	2932	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K	MARK2_uc001nxv.4_Missense_Mutation_p.E721K|MARK2_uc001nxx.3_Missense_Mutation_p.E716K|MARK2_uc001nxy.3_Missense_Mutation_p.E706K|MARK2_uc001nxz.4_Missense_Mutation_p.E742K|MARK2_uc009yoy.3_Missense_Mutation_p.E696K	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	785	KA1.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AATAGCCAACGAGCTGAAGCT	0.647000														56			21		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111965556	111965556	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111965556G>A	uc001eba.3	-	5	657	c.601C>T	c.(601-603)Cta>Tta	p.L201L	OVGP1_uc001eaz.3_Silent_p.L163L|OVGP1_uc010owb.2_5'UTR	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	201					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CACCTTCCTAGAAAGCGCACA	0.557000														248			112		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62996844	62996844	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62996844G>A	uc001nwr.1	-	0	281	c.281C>T	c.(280-282)cCc>cTc	p.P94L	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.P94L	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	94					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CTTCCACTGGGGATGGACAAA	0.542000														82			15		0	0	1	0	0
CXorf41	139212	broad.mit.edu	37	X	106482183	106482183	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:106482183C>T	uc004end.3	+	6	798	c.461C>T	c.(460-462)tCt>tTt	p.S154F	CXorf41_uc004enc.3_Missense_Mutation_p.S154F	NM_001169154	NP_775765	Q9NQM4	CX041_HUMAN	Homo sapiens chromosome X open reading frame 41 (CXorf41), transcript variant 1, mRNA.	154										haematopoietic_and_lymphoid_tissue(1)|lung(5)	6						ACAAACCCTTCTGATATTCAA	0.299000														12			27		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25708275	25708275	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:25708275T>A	uc003xes.2	-	14	1796	c.1531A>T	c.(1531-1533)Atg>Ttg	p.M511L	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	511	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CTTGATGACATGACTGGAAAG	0.423000														45			20		0	0	1	0	0
AKR7A2	8574	broad.mit.edu	37	1	19635037	19635037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:19635037G>A	uc001bbw.3	-	1	420	c.398C>T	c.(397-399)cCc>cTc	p.P133L	AKR7A2_uc009vpi.1_Missense_Mutation_p.P133L	NM_003689	NP_003680	O43488	ARK72_HUMAN	Homo sapiens aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) (AKR7A2), mRNA.	133					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCACTTGGGGACACTGCAG	0.602000														72			13		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7636110	7636110	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7636110C>T	uc001qsz.3	-	11	3069	c.2941G>A	c.(2941-2943)Gaa>Aaa	p.E981K	CD163_uc001qta.3_Missense_Mutation_p.E981K|CD163_uc009zfw.2_Missense_Mutation_p.E1014K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	981	SRCR 9.				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						AACTCTGCTTCTTTGAATGCT	0.522000														91			45		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022284	161022284	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161022284C>T	uc001fxl.3	-	7	1232	c.886G>A	c.(886-888)Ggt>Agt	p.G296S	ARHGAP30_uc001fxk.3_Missense_Mutation_p.G296S|ARHGAP30_uc001fxm.3_Missense_Mutation_p.G142S|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.G142S	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	296					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCAGAGCGACCTAAATTGAAG	0.547000														243			95		0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51361366	51361366	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51361366C>T	uc021uyi.1	+	2	329	c.288C>T	c.(286-288)ttC>ttT	p.F96F	KLK3_uc002pts.1_Silent_p.F96F|KLK3_uc002ptr.1_Intron|KLK3_uc010eof.1_Intron	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	96	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GCCACAGCTTCCCACACCCGC	0.577000														47			23		0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582584	180582584	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:180582584C>T	uc011dhj.2	+	0	642	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATTCTCCATCATCGTGGCCT	0.517000														205			27		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73477502	73477502	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:73477502C>T	uc003tzw.3	+	26	1915	c.1824C>T	c.(1822-1824)gtC>gtT	p.V608V	ELN_uc003tzn.3_Silent_p.V602V|ELN_uc003tzy.3_Silent_p.V578V|ELN_uc003tzz.3_Silent_p.V521V|ELN_uc003tzo.3_Silent_p.V554V|ELN_uc003tzp.3_Silent_p.V513V|ELN_uc003tzq.3_Silent_p.V466V|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Silent_p.V583V|ELN_uc003tzt.3_Silent_p.V607V|ELN_uc003tzu.3_Silent_p.V588V|ELN_uc003tzv.3_Silent_p.V573V|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Silent_p.V592V|ELN_uc011kff.2_Silent_p.V602V	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	664	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGCCTGGGGTCCTTGGAGGGC	0.622000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							17			8		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43763125	43763125	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:43763125C>T	uc010skx.2	-	36	5506	c.5506G>A	c.(5506-5508)Gga>Aga	p.G1836R		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1836	GON.					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)		TAGCAATCTCCAGCTGTGGCA	0.318000														14			4		0	0	1	0	0
MANEA	79694	broad.mit.edu	37	6	96053623	96053623	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:96053623G>A	uc003poo.2	+	5	912	c.732_splice	c.e5-1	p.K244_splice		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.	244	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TTATTTTCTAGATATGGAAAT	0.348000														57			16		0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117122373	117122373	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:117122373G>A	uc001egq.1	-	10	3740	c.3035C>T	c.(3034-3036)tCc>tTc	p.S1012F	IGSF3_uc001egr.1_Missense_Mutation_p.S992F	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	992	Ig-like C2-type 8.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGTCCTCAGGGAATACCAGGC	0.612000														39			15		0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031306	56031306	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56031306C>T	uc010spq.2	+	0	631	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CATTATGATCCCCTTCTCTCT	0.557000														106			38		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882168	228882168	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228882168C>T	uc002vpq.2	-	6	3449	c.3402G>A	c.(3400-3402)gtG>gtA	p.V1134V	SPHKAP_uc002vpp.2_Silent_p.V1134V|SPHKAP_uc010zlx.1_Silent_p.V1134V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1134						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCATCTGGTTCACCATGAACC	0.527000														36			17		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90020763	90020763	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:90020763C>T	uc003kju.3	+	45	9959	c.9863C>T	c.(9862-9864)tCt>tTt	p.S3288F	GPR98_uc003kjt.3_Missense_Mutation_p.S994F|GPR98_uc003kjv.3_Missense_Mutation_p.S888F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3288					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAAATCATCTGTTACTGTT	0.294000														45			18		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128509	152128509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152128509C>T	uc001ezs.1	-	2	1131	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	356	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.D356N(2)		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						TTTGTCTGATCATAATGATAA	0.488000														641			290		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104999239	104999239	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:104999239C>T	uc004elz.1	+	9	2017	c.1261C>T	c.(1261-1263)Cct>Tct	p.P421S		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	421	TIR.				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						CTGTGACAATCCTGAAGAAGA	0.388000														38			47		0	0	1	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036637	13036637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:13036637C>T	uc009vnq.1	+	1	709	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	PRAMEF6_uc001aur.2_Intron	NM_001100631	NP_001094101	A3QJZ6	PRA22_HUMAN	Homo sapiens PRAME family member 22 (PRAMEF22), mRNA.	237								p.R237H(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						GAGGAATCTTCGCAAACTCTT	0.473000														220			79		0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274505	39274505	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39274505C>T	uc002hvz.3	-	0	102	c.63G>A	c.(61-63)caG>caA	p.Q21Q		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	21	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCAGGTCTCCTGGCAGAGGT	0.612000														29			10		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585704	82585704	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82585704G>A	uc003uhx.2	-	4	4854	c.4565C>T	c.(4564-4566)tCa>tTa	p.S1522L	PCLO_uc003uhv.2_Missense_Mutation_p.S1522L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1453					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						TGGAACAGGTGAGTTTTCACT	0.423000														31			18		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24167407	24167407	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24167407G>A	uc003xdy.3	+	3	234	c.151_splice	c.e3-1	p.E51_splice	ADAM28_uc003xdx.3_Splice_Site_p.E51_splice|ADAM28_uc011kzz.2_Splice_Site|ADAM28_uc011laa.2_Splice_Site	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	51					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATTTTTGCAGGAACAATTTGA	0.234000														112			17		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38903382	38903382	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38903382G>A	uc021yzh.1	+	76	11581	c.11472G>A	c.(11470-11472)gaG>gaA	p.E3824E	DNAH8_uc003ooe.2_Silent_p.E3607E|DNAH8_uc003oog.1_Silent_p.E56E|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TAGAGGCTGAGAGGGTTAAAC	0.313000														200			93		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703417	4703417	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4703417G>A	uc001lzk.2	-	1	769	c.525C>T	c.(523-525)caC>caT	p.H175H	OR51E2_uc021qcr.1_Silent_p.H175H	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CACAATAGGAGTGCGAGAGGA	0.532000														70			28		0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187885	37187885	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:37187885G>A	uc002hrd.1	+	0		c.1727G>A								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		TTTGGATCTGGAACTTACCTT	0.488000														44			29		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153030042	153030042	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:153030042G>A	uc011dcy.2	+	3	670	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	GRIA1_uc003lva.4_Missense_Mutation_p.E205K|GRIA1_uc003luy.4_Missense_Mutation_p.E205K|GRIA1_uc003luz.4_Missense_Mutation_p.E110K|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.E125K|GRIA1_uc011dcx.2_Missense_Mutation_p.E136K|GRIA1_uc011dcz.2_Missense_Mutation_p.E215K|GRIA1_uc010jia.1_Missense_Mutation_p.E185K	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	205					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.Q215H(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGTGGACTGTGAATCAGAACG	0.532000														47			17		0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74284974	74284974	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:74284974G>A	uc004ebz.3	-	12	1790	c.1765C>T	c.(1765-1767)Cat>Tat	p.H589Y	ABCB7_uc010nlt.3_Missense_Mutation_p.H548Y|ABCB7_uc004eca.3_Missense_Mutation_p.H588Y|ABCB7_uc011mqn.2_Missense_Mutation_p.H562Y|ABCB7_uc010nls.3_Missense_Mutation_p.H549Y	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	588	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	p.H589Y(2)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						ATTGCATCATGAAGTCCAGCT	0.433000														12			18		0	0	1	0	0
YTHDF2	51441	broad.mit.edu	37	1	29070059	29070059	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:29070059C>T	uc021okf.1	+	4	1540	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F	YTHDF2_uc001brc.3_Missense_Mutation_p.S426F|YTHDF2_uc010ofx.2_Missense_Mutation_p.S376F|YTHDF2_uc001bre.3_Missense_Mutation_p.S376F	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	426	YTH.				humoral immune response			p.R425S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ATTCACCGTTCCATTAAGTAT	0.423000														104			9		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50764888	50764888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50764888C>T	uc010enu.1	+	20	2628	c.2581C>T	c.(2581-2583)Cgc>Tgc	p.R861C	MYH14_uc002prq.1_Missense_Mutation_p.R828C|MYH14_uc002prr.1_Missense_Mutation_p.R820C	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	820					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ATACCTGGCTCGCAGGTGGGC	0.662000														13			13		0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153312970	153312970	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153312970G>A	uc001fbo.3	-	6	776	c.711C>T	c.(709-711)atC>atT	p.I237I	PGLYRP4_uc001fbp.3_Silent_p.I233I	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	237					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGGATAATGATGCCATACT	0.597000														65			25		0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158152041	158152041	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158152041C>T	uc001frr.3	+	3	1047	c.548C>T	c.(547-549)aCc>aTc	p.T183I	CD1D_uc009wsr.1_Missense_Mutation_p.T183I|CD1D_uc009wss.3_Missense_Mutation_p.T183I|CD1D_uc009wst.1_Missense_Mutation_p.T79I	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	183					T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CTTAATGGCACCTGCCCCCAA	0.552000														211			52		0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22846939	22846939	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22846939C>T	uc001yuq.2	+	7	944	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	TUBGCP5_uc001yur.4_Missense_Mutation_p.R272W|TUBGCP5_uc010axz.1_5'Flank	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	272					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TCAGGTTATTCGGGAAACCCT	0.353000														72			17		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140230425	140230425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140230425C>T	uc003lhu.2	+	0	3069	c.2345C>T	c.(2344-2346)tCt>tTt	p.S782F	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_uc003lht.1_Missense_Mutation_p.S782F	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	819					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)			TGTGCTGGATCTACAGAGCGA	0.488000														42			45		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70946800	70946800	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70946800C>T	uc001swb.4	-	19	4520	c.4490_splice	c.e19-1	p.G1497_splice	PTPRB_uc010sto.2_Splice_Site_p.G1407_splice|PTPRB_uc010stp.2_Splice_Site_p.G1407_splice|PTPRB_uc001swc.4_Splice_Site_p.G1715_splice|PTPRB_uc001swa.4_Splice_Site_p.G1627_splice	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1497	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTCATCACTGCCTGGAGGAGA	0.468000														128			32		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54919601	54919601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:54919601C>T	uc003dhf.3	+	22	2092	c.2044C>T	c.(2044-2046)Cct>Tct	p.P682S	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.P588S|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.P416S|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	682						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGGCAAAGAACCTCTGCTCCA	0.468000														9			6		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41516650	41516650	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41516650C>T	uc002yyq.1	-	16	3479	c.3027G>A	c.(3025-3027)aaG>aaA	p.K1009K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1009	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCAAATGTTTCTTGGGAGCCT	0.443000														56			14		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38793802	38793802	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38793802G>A	uc003ciq.3	-	10	1663	c.1663C>T	c.(1663-1665)Cct>Tct	p.P555S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	555					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGGGTTGAGGAAGAGGGCTT	0.602000														76			30		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183245205	183245205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:183245205C>T	uc003ivd.1	+	0	107	c.32C>T	c.(31-33)tCc>tTc	p.S11F	ODZ3_uc021xux.1_Missense_Mutation_p.S11F|ODZ3_uc010irv.1_Missense_Mutation_p.S11F	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	11	Teneurin N-terminal.				signal transduction	integral to membrane		p.C10F(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CCTTACTGCTCCCTGACCAAG	0.522000														28			13		0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46733247	46733247	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:46733247C>T	uc001cpl.2	+	8	1719	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	RAD54L_uc009vye.2_Silent_p.F336F	NM_003579	NP_003570	Q92698	RAD54_HUMAN	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.	336	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TTGAGTATTTCAGCTTGGTAC	0.493000								Direct reversal of damage;Homologous recombination						49			31		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522829	23522829	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:23522829C>T	uc003jgo.3	+	7	899	c.717C>T	c.(715-717)gcC>gcT	p.A239A		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	239					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						ACCGTTCAGCCCTCAGTCTGC	0.572000										HNSCC(3;0.000094)				42			11		0	0	1	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44364864	44364864	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44364864C>T	uc001ckb.3	+	8	870	c.693C>T	c.(691-693)atC>atT	p.I231I	ST3GAL3_uc010okj.1_Non-coding_Transcript|ST3GAL3_uc001cjz.3_Silent_p.I177I|ST3GAL3_uc001cka.3_Intron|ST3GAL3_uc001ckc.3_Silent_p.I162I|ST3GAL3_uc001ckd.3_Silent_p.I216I|ST3GAL3_uc001cke.3_Silent_p.I146I|ST3GAL3_uc001ckf.3_Silent_p.I200I|ST3GAL3_uc001ckg.3_Silent_p.I162I|ST3GAL3_uc001ckh.3_Intron|ST3GAL3_uc001cki.3_Intron|ST3GAL3_uc009vwx.3_Non-coding_Transcript|ST3GAL3_uc009vwz.3_Intron|ST3GAL3_uc001ckm.3_Silent_p.I161I|ST3GAL3_uc001ckn.3_Non-coding_Transcript|ST3GAL3_uc001cko.3_Silent_p.I146I|ST3GAL3_uc001ckp.3_Silent_p.I161I|ST3GAL3_uc009vxa.3_5'UTR|ST3GAL3_uc001ckq.3_Silent_p.I146I|ST3GAL3_uc001ckr.3_Silent_p.I115I|ST3GAL3_uc009vxb.3_Intron|ST3GAL3_uc009vwv.3_Silent_p.I162I|ST3GAL3_uc001ckj.3_Non-coding_Transcript|ST3GAL3_uc009vww.3_Non-coding_Transcript|ST3GAL3_uc001ckk.3_Silent_p.I131I|ST3GAL3_uc009vwy.3_Silent_p.I68I|ST3GAL3_uc001ckl.3_Silent_p.I162I	NM_174963	NP_777623	Q11203	SIAT6_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 3 (ST3GAL3), transcript variant 1, mRNA.	162					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GCTGCATCATCGTGGGCAATG	0.592000														75			24		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143098605	143098605	+	Missense_Mutation	SNP	G	A	A	rs74721927	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143098605G>A	uc003wcz.3	-	2	331	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	82						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CAATTGGAGCGAAGCCAGTGG	0.602000														249			20		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110402700	110402700	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110402700C>T	uc003yne.3	+	8	821	c.717C>T	c.(715-717)ttC>ttT	p.F239F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	239	IPT/TIG 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			ATGTCAGCTTCATCTTAGATA	0.264000										HNSCC(38;0.096)				5			4		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115454199	115454199	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:115454199G>A	uc001efr.3	+	17	1734	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E509K|SYCP1_uc009wgw.3_Missense_Mutation_p.E509K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	509				IQLTAITTSEQYYSKEVKDLKTELENEK -> YSYCHYHKW TVLPKRGQRPKLSSKRE (in Ref. 2; BAA22586).	cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.N508N(1)	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)		GCTTGAAAACGAGAAGTATGT	0.249000														29			12		0	0	1	0	0
DUSP10	11221	broad.mit.edu	37	1	221912437	221912437	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:221912437G>A	uc001hmy.2	-	1	887	c.650C>T	c.(649-651)tCc>tTc	p.S217F	DUSP10_uc001hmx.2_5'Flank|DUSP10_uc001hmz.2_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA.	217	Rhodanese.				JNK cascade|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TTCCCTACAGGAAATCAAGTC	0.468000														71			17		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117665424	117665424	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117665424C>T	uc001twn.2	-	23	4241	c.3530G>A	c.(3529-3531)tGg>tAg	p.W1177*	NOS1_uc021ren.1_Nonsense_Mutation_p.W807*|NOS1_uc021reo.1_Nonsense_Mutation_p.W807*|NOS1_uc001twm.2_Nonsense_Mutation_p.W1143*	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1143	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCCATTTCCATTCCTCGTA	0.592000														58			17		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31815971	31815971	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:31815971G>A	uc001ivs.4	+	8	3217	c.3154G>A	c.(3154-3156)Gaa>Aaa	p.E1052K	ZEB1_uc001ivr.4_Missense_Mutation_p.E834K|ZEB1_uc010qef.2_Missense_Mutation_p.E834K|ZEB1_uc001ivu.4_Missense_Mutation_p.E1053K|ZEB1_uc010qeh.2_Missense_Mutation_p.E985K|ZEB1_uc001ivv.4_Missense_Mutation_p.E1032K|ZEB1_uc001ivt.4_Missense_Mutation_p.E834K|ZEB1_uc009xlo.2_Missense_Mutation_p.E1035K|ZEB1_uc009xlp.3_Missense_Mutation_p.E1036K	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	1052	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				agaattgcaggaagaaaaaga	0.473000														15			5		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106431506	106431506	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:106431506G>A	uc003ymd.3	+	1	198	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	59					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAGCTGCGAAGAAGTGGAATA	0.358000														90			24		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94703957	94703957	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94703957G>A	uc001ycs.1	+	7	941	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	263						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTCTAGGGATGAAGGCAGCAG	0.348000														134			51		0	0	1	0	0
FRRS1L	23732	broad.mit.edu	37	9	111911944	111911944	+	Missense_Mutation	SNP	C	T	T	rs141125474	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:111911944C>T	uc004bdw.1	-	1	448	c.448G>A	c.(448-450)Gac>Aac	p.D150N		NM_014334	NP_055149	Q9P0K9	CI004_HUMAN	Homo sapiens chromosome 9 open reading frame 4 (C9orf4), mRNA.	150						integral to membrane											TTTCCACAGTCGTCCACTTTG	0.428000														38			4		0	0	1	0	0
KRT37	8688	broad.mit.edu	37	17	39579060	39579060	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39579060C>T	uc002hwp.1	-	2	749	c.702G>A	c.(700-702)gaG>gaA	p.E234E		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	234	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GGGAGAGCTGCTCCTCCTTCA	0.692000														22			18		0	0	1	0	0
ATG13	9776	broad.mit.edu	37	11	46686987	46686987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:46686987C>T	uc001nda.3	+	12	1682	c.1054C>T	c.(1054-1056)Cat>Tat	p.H352Y	ATG13_uc009yld.3_Missense_Mutation_p.H319Y|ATG13_uc001ndb.3_Missense_Mutation_p.H319Y|ATG13_uc001ncz.3_Missense_Mutation_p.H282Y|ATG13_uc001ndc.3_Missense_Mutation_p.H282Y|ATG13_uc010rgv.2_Missense_Mutation_p.H203Y	NM_001205119	NP_001192048	O75143	ATG13_HUMAN	Homo sapiens ATG13 autophagy related 13 homolog (S. cerevisiae) (ATG13), transcript variant 3, mRNA.	319					autophagic vacuole assembly	ULK1-ATG13-FIP200 complex|cytosol|pre-autophagosomal structure	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CCAGCCTGTCCATGGTACCCA	0.562000														45			25		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283989	152283989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152283989C>T	uc001ezu.1	-	2	3409	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1125	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGACTGTTCATGAGTGCTC	0.607000									Ichthyosis					339			128		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941645	22941645	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22941645G>A	uc021urt.1	-	3	1221	c.1066C>T	c.(1066-1068)Ctt>Ttt	p.L356F		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.L265I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTTTTCTAAGGGTTGAGGAC	0.368000														95			37		0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71125438	71125438	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:71125438C>T	uc002ass.3	-	2	500	c.429G>A	c.(427-429)cgG>cgA	p.R143R		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	143	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding	p.R143L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TTCTCCAGTCCCGTGTAAGAT	0.483000														80			24		0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52473641	52473641	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:52473641C>T	uc002egw.2	-	6	1398	c.1227G>A	c.(1225-1227)tcG>tcA	p.S409S	TOX3_uc010vgt.1_Silent_p.S404S	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	409					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	p.P408P(1)|p.P408T(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CCCCAATGTTCGAGGGCATGT	0.542000														114			50		0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146684103	146684103	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:146684103C>T	uc001epi.2	-	5	877	c.488_splice	c.e5-1	p.G163_splice	FMO5_uc001eph.4_Splice_Site_p.G163_splice|FMO5_uc001epj.2_Splice_Site_p.G163_splice|FMO5_uc001epk.4_Splice_Site_p.G163_splice	NM_001461	NP_001452	P49326	FMO5_HUMAN	Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA.	163						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CTTCTCAATTCCTGCAAGAGA	0.353000														113			10		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3200901	3200901	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:3200901G>A	uc022aqr.1	-	22	3936	c.3546C>T	c.(3544-3546)atC>atT	p.I1182I	CSMD1_uc011kwj.2_Silent_p.I575I|CSMD1_uc003wqe.3_Silent_p.I339I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1183	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCTGTTTAGGATCAGCCCCA	0.448000														63			19		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102469297	102469297	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:102469297C>T	uc001yks.2	+	22	5042	c.4878C>T	c.(4876-4878)ttC>ttT	p.F1626F		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1626	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGTCATCTTTCCCCAGGTAAG	0.463000														48			22		0	0	1	0	0
ULBP2	80328	broad.mit.edu	37	6	150266593	150266593	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:150266593G>A	uc003qno.3	+	1	307	c.234G>A	c.(232-234)ggG>ggA	p.G78G	ULBP2_uc011eeh.1_Silent_p.G78G|ULBP2_uc010kij.3_Silent_p.G78G	NM_025217	NP_079493	Q9BZM5	N2DL2_HUMAN	Homo sapiens UL16 binding protein 2 (ULBP2), mRNA.	78	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|cell surface|extracellular space	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GTCCCCTGGGGAAGAAACTAA	0.512000														156			78		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141497271	141497271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:141497271C>T	uc011bnd.2	+	0	229	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	49					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CGCGGAGCTCCGCCAGAAGCT	0.682000														33			5		0	0	1	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50684558	50684558	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:50684558C>T	uc003day.2	+	11	1562	c.920C>T	c.(919-921)tCg>tTg	p.S307L	MAPKAPK3_uc003daz.2_Missense_Mutation_p.S307L|MAPKAPK3_uc003dba.2_Missense_Mutation_p.S307L|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.S307L	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.	307					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		TTCCAGCAATCGATGGTAGTG	0.602000														9			7		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719138	140719138	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140719138G>A	uc003ljk.2	+	0	785	c.600G>A	c.(598-600)ctG>ctA	p.L200L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.L200L	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	200	Cadherin 2.				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)			AGCGCTCTCTGGACCGCGAGG	0.587000														61			29		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55452895	55452895	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55452895G>A	uc002qih.4	-	1	261	c.185C>T	c.(184-186)tCc>tTc	p.S62F	NLRP7_uc010esk.3_Missense_Mutation_p.S62F|NLRP7_uc002qig.4_Missense_Mutation_p.S62F|NLRP7_uc002qii.4_Missense_Mutation_p.S62F|NLRP7_uc010esl.3_Missense_Mutation_p.S90F	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	62	DAPIN.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ATTTTCTGAGGAGGTGTTGAC	0.468000														76			40		0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584900	1584900	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:1584900G>A	uc022brv.1	-	0	552	c.552C>T	c.(550-552)ctC>ctT	p.L184L	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.L184L	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	184						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCACGCTGGGGAGCATCGTCC	0.627000			T	CRLF2	"""B-ALL, Downs associated ALL"""									48			13		0	0	1	0	0
TREM2	54209	broad.mit.edu	37	6	41126689	41126689	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:41126689C>T	uc003opz.2	-	3	740	c.728G>A	c.(727-729)tGg>tAg	p.W243*	TREM2_uc003opy.2_Missense_Mutation_p.G200R|TREM2_uc010jxl.1_Intron			Q9NZC2	TREM2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells 2 (TREM2), mRNA.	0					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTTCTGTCCATGCCAGGCT	0.582000														56			21		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101566311	101566311	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:101566311G>A	uc002bwr.3	+	16	2693	c.2374G>A	c.(2374-2376)Ggc>Agc	p.G792S	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	792	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A792A(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGGGCCACAGGCTTCCCAGA	0.582000														64			12		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103467999	103467999	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:103467999C>T	uc001dum.3	-	22	2436	c.2118G>A	c.(2116-2118)ggG>ggA	p.G706G	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Silent_p.G694G|COL11A1_uc001dun.3_Silent_p.G655G|COL11A1_uc009weh.3_Silent_p.G578G	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	694	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)		GTCCTGGATTCCCTTGTTGAC	0.423000														9			5		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161116026	161116026	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:161116026G>A	uc003lyu.2	+	3	635	c.297G>A	c.(295-297)gaG>gaA	p.E99E	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	99					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGCCAACTGAGATTCTGAGTC	0.413000										TCGA Ovarian(5;0.080)				108			33		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842272	123842272	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:123842272G>A	uc001lfv.3	+	3	617	c.257G>A	c.(256-258)gGa>gAa	p.G86E	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.G86E|TACC2_uc010qtv.2_Missense_Mutation_p.G86E	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	86						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)				GACCCACAGGGAGCCAGGGGG	0.637000														88			30		0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106846214	106846214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:106846214G>A	uc022cce.1	+	0	2580	c.2212G>A	c.(2212-2214)Gac>Aac	p.D738N				Q5JV73	FRPD3_HUMAN	Homo sapiens mRNA for KIAA1817 protein, partial cds.	1682						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GGCCAATGTGGACAAGAGCCC	0.587000														19			21		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161039388	161039388	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161039388C>T	uc001fxl.3	-	0	373	c.27G>A	c.(25-27)aaG>aaA	p.K9K	ARHGAP30_uc001fxk.3_Silent_p.K9K|ARHGAP30_uc001fxm.3_5'UTR|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	9					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CGCTGCCCTTCTTCTTTCCTT	0.622000														74			36		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53225270	53225270	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53225270C>T	uc001sbb.3	-	1	651	c.618G>A	c.(616-618)ctG>ctA	p.L206L	KRT79_uc001sba.3_5'Flank	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	206	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.T205M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAAGTCTGTCCAGCGTGCTCC	0.612000														105			32		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552501	140552501	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140552501G>A	uc003lit.3	+	0	259	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	29					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A28A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTGGCGCCGAACCGCTTCG	0.517000														101			25		0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119461243	119461243	+	Missense_Mutation	SNP	C	A	A	rs3747835	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:119461243C>A	uc022bmo.1	+	0	1222	c.1222C>A	c.(1222-1224)Cgc>Agc	p.R408S	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.R408S|TRIM32_uc004bjx.2_Missense_Mutation_p.R408S	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	408			R -> C (in dbSNP:rs3747835).		fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor	nucleus	RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GAAGGAAATCCGCCGCAGCCC	0.512000														119			51		4.78724e-31	4.81712e-31	1	1	0
SLC26A5	375611	broad.mit.edu	37	7	103029809	103029809	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:103029809G>A	uc003vbz.3	-	12	1636	c.1374C>T	c.(1372-1374)ctC>ctT	p.L458L	SLC26A5_uc003vbt.2_Silent_p.L458L|SLC26A5_uc003vbu.2_Silent_p.L458L|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Intron|SLC26A5_uc010liy.3_Intron|SLC26A5_uc003vbx.3_Intron	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	458					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AGAAAAAGGGGAGATCTGAGA	0.438000														73			28		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8873709	8873709	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:8873709G>A	uc002qzc.2	-	28	4100	c.3918C>T	c.(3916-3918)cgC>cgT	p.R1306R	KIDINS220_uc010yiv.1_Silent_p.R1015R|KIDINS220_uc002qzd.2_Silent_p.R1207R|KIDINS220_uc002qzb.2_Silent_p.R160R	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1306					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGGAAGCGCGGCGAGCAGGCT	0.597000														73			34		0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56935685	56935685	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56935685C>T	uc010ygl.1	+	4	1823	c.1658C>T	c.(1657-1659)cCc>cTc	p.P553L	ZNF583_uc002qnc.2_Missense_Mutation_p.P553L|ZNF583_uc010ygm.1_Missense_Mutation_p.P553L	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ctttcctctccctcaccctcc	0.423000														23			13		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5708755	5708755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:5708755C>T	uc001qnm.2	-	20	2200	c.2128G>A	c.(2128-2130)Gaa>Aaa	p.E710K		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	715						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.T710I(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCTCCAGCTTCGGTCTCATCT	0.453000														78			34		0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169099050	169099050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169099050G>A	uc003irm.3	+	7	708	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	ANXA10_uc003irn.3_Missense_Mutation_p.E54K	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	182							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GGTCCTATGGGAAGCCTGTCA	0.502000														93			18		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204951123	204951123	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204951123C>T	uc010prc.2	+	19	2675	c.1146C>T	c.(1144-1146)tcC>tcT	p.S382S	NFASC_uc001hbj.3_Silent_p.S815S|NFASC_uc010pra.2_Silent_p.S811S|NFASC_uc001hbi.3_Silent_p.S811S|NFASC_uc010prb.2_Silent_p.S826S|NFASC_uc001hbk.1_Silent_p.S621S|NFASC_uc001hbl.2_Silent_p.S65S			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	815	Ig-like C2-type 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGCCAGAGTCCGTCATCGGTT	0.622000														9			5		0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043908	56043908	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56043908G>A	uc001nio.1	+	0	794	c.794G>A	c.(793-795)gGg>gAg	p.G265E		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ATTTATCATGGGACAATCCTC	0.413000														160			65		0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966723	23966723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:23966723G>A	uc002wts.3	-	2	427	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GGTLC1_uc002wtu.3_Silent_p.F98F|DQ583395_uc021wbk.1_5'Flank	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	98							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CTGGCTGGATGAAATTGGCAG	0.612000														116			32		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9100181	9100181	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:9100181G>A	uc001apo.3	-	5	931	c.639C>T	c.(637-639)ttC>ttT	p.F213F	SLC2A5_uc010nzy.2_Silent_p.F154F|SLC2A5_uc010nzz.2_Silent_p.F98F|SLC2A5_uc010oaa.2_Silent_p.F169F	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	213					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTCTCGGGGAAGAAGGGCA	0.682000														8			3		0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23397352	23397352	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23397352G>A	uc001whm.1	-	2	389	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	PRMT5_uc001whl.1_Missense_Mutation_p.R83C|PRMT5_uc010tnf.1_5'UTR|PRMT5_uc010tnh.1_Intron|PRMT5_uc010tng.1_Intron|PRMT5_uc001whn.1_Missense_Mutation_p.R83C|TRNA_uc021rqs.1_5'Flank|TRNA_uc021rqt.1_5'Flank	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	100					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GAGTTCCTGCGAATCTTCTCC	0.498000														102			7		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135428793	135428793	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:135428793C>T	uc004ezu.1	+	5	3219	c.2928C>T	c.(2926-2928)acC>acT	p.T976T	GPR112_uc010nsb.1_Silent_p.T771T|GPR112_uc010nsc.1_Silent_p.T743T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	976					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TATCAGAAACCAGTTTCTCCA	0.512000														112			16		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422852	26422852	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26422852G>A	uc003abz.1	+	42	7162	c.6912G>A	c.(6910-6912)agG>agA	p.R2304R	MYO18B_uc003aca.1_Silent_p.R2185R|MYO18B_uc010guy.1_Silent_p.R2186R|MYO18B_uc010guz.1_Silent_p.R2184R|MYO18B_uc011aka.1_Silent_p.R1458R|MYO18B_uc011akb.1_Silent_p.R1817R|MYO18B_uc010gva.1_Silent_p.R287R|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2304						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						TCTCGCTGAGGGTTGGGGCAA	0.607000														26			13		0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10403533	10403533	+	Missense_Mutation	SNP	C	T	T	rs140852122		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10403533C>T	uc002mnu.4	+	4	1272	c.1207C>T	c.(1207-1209)Cgt>Tgt	p.R403C	ICAM5_uc002mnv.4_Missense_Mutation_p.R278C	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	403					cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGCAGAGCTTCGTGTCCTATG	0.602000														59			14		0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839271	100839271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100839271C>T	uc003uyc.3	-	6	1149	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	MOGAT3_uc010lhr.3_Missense_Mutation_p.G260E	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	328					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CCACAGCTTTCCTTGTGCTCC	0.647000														59			32		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860201	16860201	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16860201T>C	uc002neu.4	+	5	1170	c.748T>C	c.(748-750)Ttg>Ctg	p.L250L	NWD1_uc002net.4_Silent_p.L115L|NWD1_uc002nev.4_Silent_p.L44L|NWD1_uc021uqg.1_Silent_p.L115L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	250							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						GAGCCGCGACTTGGTGAACCC	0.597000														47			21		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327514	57327514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57327514C>T	uc002qnu.2	-	6	2647	c.2296G>A	c.(2296-2298)Gaa>Aaa	p.E766K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E737K|PEG3_uc002qnv.2_Missense_Mutation_p.E766K|PEG3_uc002qnw.2_Missense_Mutation_p.E642K|PEG3_uc002qnx.2_Missense_Mutation_p.E640K|PEG3_uc010etr.2_Missense_Mutation_p.E766K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	766					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TAGACATTTTCCTTAGTGGGA	0.428000														218			57		0	0	1	0	0
UBE2Q2	92912	broad.mit.edu	37	15	76175737	76175737	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:76175737C>T	uc002bbg.2	+	8	1242	c.856C>T	c.(856-858)Cga>Tga	p.R286*	UBE2Q2_uc002bbh.2_Nonsense_Mutation_p.R251*|UBE2Q2_uc010umn.1_Nonsense_Mutation_p.R270*|UBE2Q2_uc002bbi.2_Nonsense_Mutation_p.R167*	NM_173469	NP_775740	Q8WVN8	UB2Q2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Q family member 2 (UBE2Q2), transcript variant 1, mRNA.	286					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						TCCATTTGTTCGAGTGGTGTT	0.284000														81			28		0	0	1	0	0
MFSD12	126321	broad.mit.edu	37	19	3547941	3547941	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3547941C>T	uc002lxw.3	-	3	912	c.742G>A	c.(742-744)Gag>Aag	p.E248K	MFSD12_uc002lxx.3_Missense_Mutation_p.E248K|MFSD12_uc002lxy.3_Missense_Mutation_p.E239K|MFSD12_uc002lxz.3_Missense_Mutation_p.E248K	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	248					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CCTGGCTCCTCCGCATGCGGC	0.701000														17			7		0	0	1	0	0
WIBG	84305	broad.mit.edu	37	12	56295662	56295662	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56295662G>A	uc001sif.1	-	2	761	c.609C>T	c.(607-609)ggC>ggT	p.G203G	WIBG_uc001sie.1_Silent_p.G202G	NM_032345	NP_115721	Q9BRP8	WIBG_HUMAN	Homo sapiens within bgcn homolog (Drosophila) (WIBG), transcript variant 1, mRNA.	203	eIF2A-like.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	RNA binding|protein binding|ribosome binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCCTCAGAGGCCTAACTCCA	0.577000														263			81		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118500911	118500911	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:118500911C>T	uc010jcl.1	+	20	5087	c.4906C>T	c.(4906-4908)Cct>Tct	p.P1636S	DMXL1_uc003ksd.2_Missense_Mutation_p.P1636S|DMXL1_uc021ycw.1_Missense_Mutation_p.P1463S	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1636										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAAGAATGATCCTTTAGATGC	0.289000														73			23		0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154744507	154744507	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154744507G>A	uc021pah.1	-	2	1706	c.1392C>T	c.(1390-1392)ctC>ctT	p.L464L	KCNN3_uc001ffo.3_Silent_p.L159L|KCNN3_uc001ffp.3_Silent_p.L464L|KCNN3_uc009wox.1_Silent_p.L464L	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	469						integral to membrane	calmodulin binding	p.L464L(2)|p.L159L(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TGCTGAACACGAGCAGCACAG	0.557000														67			23		0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42127077	42127077	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42127077C>T	uc001zoo.4	+	1	244	c.204C>T	c.(202-204)tcC>tcT	p.S68S	JMJD7-PLA2G4B_uc010bcm.1_Non-coding_Transcript|JMJD7-PLA2G4B_uc001zom.2_Intron|JMJD7-PLA2G4B_uc001zon.2_Silent_p.S68S|JMJD7-PLA2G4B_uc010bcn.3_Silent_p.S68S|JMJD7-PLA2G4B_uc001zop.1_5'UTR|JMJD7-PLA2G4B_uc001zoq.4_5'Flank	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	0	C2.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	p.W67R(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						AGAAGTGGTCCCTCCCCTATT	0.617000														72			25		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50158630	50158630	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:50158630C>T	uc001zxu.3	-	25	3221	c.3079G>A	c.(3079-3081)Ggg>Agg	p.G1027R	ATP8B4_uc010ber.3_Missense_Mutation_p.G900R|ATP8B4_uc010ufd.2_Missense_Mutation_p.G837R|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_Missense_Mutation_p.G30R	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	1027					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	p.G1027V(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCAATGCTCCCCCAGATGAAG	0.383000														89			31		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51370588	51370588	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:51370588G>A	uc011bds.2	+	35	3539	c.3516_splice	c.e35-1	p.S1172_splice		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1172	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCACCAATAGCCTGCTGGAG	0.522000														80			20		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13786434	13786434	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13786434C>T	uc003jfd.2	-	51	8716	c.8674G>A	c.(8674-8676)Gaa>Aaa	p.E2892K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2892					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)					TTAGGTGTTTCAGCATCAGCC	0.388000									Kartagener syndrome					44			22		0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4847814	4847814	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4847814G>A	uc002mbj.2	-	5	900	c.723C>T	c.(721-723)tcC>tcT	p.S241S	PLIN3_uc002mbk.2_Silent_p.S229S|PLIN3_uc002mbl.3_Silent_p.S241S	NM_005817	NP_005808	O60664	PLIN3_HUMAN	Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.	241					vesicle-mediated transport	Golgi apparatus|endosome membrane|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TCTCCGACAGGGAGCCCAGAC	0.637000														32			10		0	0	1	0	0
GNLY	10578	broad.mit.edu	37	2	85924772	85924772	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:85924772G>A	uc002sql.4	+	3	527	c.399G>A	c.(397-399)gaG>gaA	p.E133E	GNLY_uc010fgp.3_Silent_p.E118E|GNLY_uc010ysx.2_Silent_p.E160E	NM_006433	NP_006424	P22749	GNLY_HUMAN	Homo sapiens granulysin (GNLY), transcript variant NKG5, mRNA.	133	Saposin B-type.				cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		p.E133E(2)		endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						AGATCTGTGAGGACCTCAGGT	0.542000														45			4		0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12955431	12955431	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12955431C>T	uc001auo.3	-	1	321	c.248G>A	c.(247-249)aGg>aAg	p.R83K		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	83										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCAAGTCCCCTCAGGACAGC	0.612000														47			17		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65264471	65264471	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:65264471C>T	uc001xht.3	-	8	1209	c.1158G>A	c.(1156-1158)ggG>ggA	p.G386G	SPTB_uc001xhr.3_Silent_p.G386G|SPTB_uc001xhs.3_Silent_p.G386G|SPTB_uc001xhu.3_Silent_p.G386G	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	386					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACACTAGTTTCCCATCGTGGG	0.443000														147			38		0	0	1	0	0
GAGE1	2543	broad.mit.edu	37	X	49355801	49355801	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:49355801C>T	uc004doi.4	+	3	179	c.82_splice	c.e3-1	p.P28_splice	GAGE1_uc004doj.3_Intron	NM_001127212	NP_001120684	Q13065	GAGE1_HUMAN	Homo sapiens G antigen 2A (GAGE2A), mRNA.	29					cellular defense response							Ovarian(276;0.236)					ATTCCCCAGCCCGAGCAGTTC	0.438000														370			84		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412487	19412487	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19412487G>A	uc010tcj.1	-	0		c.33623C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTCTACTTCGGAAATATCAGA	0.343000														54			16		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45941801	45941801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45941801G>A	uc002zfe.1	-	8	1597	c.1531C>T	c.(1531-1533)Ctc>Ttc	p.L511F	TSPEAR_uc010gpv.1_Missense_Mutation_p.L443F	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	511					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GAGCCCAGGAGTCGGATGTAG	0.632000														65			23		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141752717	141752717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141752717C>T	uc003vwy.3	+	25	3146	c.3092C>T	c.(3091-3093)cCc>cTc	p.P1031L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1031					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)	AATGCCTTCCCCTCCACACCC	0.458000														70			20		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228860316	228860316	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228860316C>T	uc002vpq.2	-	7	4590	c.4543G>A	c.(4543-4545)Gag>Aag	p.E1515K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1515K|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1515						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCTGTGCTCTCCTCGCTGCTG	0.572000														92			52		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6650760	6650760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6650760G>A	uc001mem.1	-	11	5485	c.5084C>T	c.(5083-5085)tCt>tTt	p.S1695F		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1695	Cadherin 16.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATCCAGAGAAAAGCTTTC	0.547000														16			6		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74041116	74041116	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74041116C>T	uc002sjr.1	+	1	731	c.610C>T	c.(610-612)Ccc>Tcc	p.P204S		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	204										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCTGTCACTTCCCTGCCAGAT	0.473000														46			23		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854466	12854466	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12854466G>A	uc001auj.2	+	2	793	c.690G>A	c.(688-690)gaG>gaA	p.E230E		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	230										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTGAAGGAGATGAAGAATC	0.418000														609			27		0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604639	58604639	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58604639C>T	uc001nnd.4	-	4	456	c.325G>A	c.(325-327)Ggc>Agc	p.G109S	GLYATL2_uc009ymq.3_Missense_Mutation_p.G109S	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	109						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TCATCCAAGCCCTCTTGGCAA	0.393000														131			51		0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10465272	10465272	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10465272G>A	uc002moc.4	-	18	3009	c.2631C>T	c.(2629-2631)gtC>gtT	p.V877V	TYK2_uc010dxe.3_Silent_p.V692V	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	877					intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCACAGTCAAGACGTCAGCAA	0.582000														62			29		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216498859	216498859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:216498859C>T	uc001hku.1	-	5	1318	c.931G>A	c.(931-933)Gtc>Atc	p.V311I	USH2A_uc001hkv.3_Missense_Mutation_p.V311I	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	311	Laminin N-terminal.				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)		AAAGGGTGGACCCGCGGGTGG	0.527000										HNSCC(13;0.011)				81			19		0	0	1	0	0
CAPS2	84698	broad.mit.edu	37	12	75683475	75683475	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:75683475C>T	uc001sxl.3	-	13	1350	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	CAPS2_uc001sxm.3_Missense_Mutation_p.E228K|CAPS2_uc009zsa.2_Missense_Mutation_p.E50K|CAPS2_uc001sxi.4_Missense_Mutation_p.E196K|CAPS2_uc001sxj.4_Missense_Mutation_p.E371K|CAPS2_uc001sxk.4_Missense_Mutation_p.E460K	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	460							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CCATTTCCTTCCTTGTCCAAC	0.348000														123			10		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63064844	63064844	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63064844C>T	uc009yor.3	+	2	784	c.576C>T	c.(574-576)ttC>ttT	p.F192F	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	192						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCGCTGCCTTCGCTCCCACCT	0.428000														136			33		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126410110	126410110	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:126410110C>T	uc003vlr.2	-	5	1477	c.1166G>A	c.(1165-1167)cGa>cAa	p.R389Q	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R389Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R110Q	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	389					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCGAGCAATTCGCTCCAGCCC	0.383000										HNSCC(24;0.065)				17			7		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31736914	31736914	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31736914G>A	uc011dog.2	-	9	1622	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S	VWA7_uc003nxd.2_Missense_Mutation_p.P137S|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	462						extracellular region											AAACGCAGAGGGGACAAGATC	0.537000														67			16		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57176870	57176870	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:57176870C>T	uc003hbk.2	+	5	715	c.324C>T	c.(322-324)ctC>ctT	p.L108L	KIAA1211_uc010iha.2_Silent_p.L101L|KIAA1211_uc011bzz.1_Silent_p.L18L|KIAA1211_uc003hbl.3_Non-coding_Transcript|KIAA1211_uc003hbm.1_5'UTR	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	108										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTCTGAATCTCCCTGGAGCTG	0.423000														64			27		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117292939	117292939	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:117292939C>T	uc003vjd.3	+	23	4049	c.3917C>T	c.(3916-3918)cCc>cTc	p.P1306L	CFTR_uc011knq.2_Missense_Mutation_p.P712L	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1306	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AACTTGGATCCCTATGAACAG	0.299000									Cystic Fibrosis					95			8		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513626	78513626	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:78513626C>T	uc001syp.3	+	14	3823	c.3650C>T	c.(3649-3651)tCc>tTc	p.S1217F	NAV3_uc001syo.3_Missense_Mutation_p.S1217F|NAV3_uc010sub.2_Missense_Mutation_p.S717F|NAV3_uc009zsf.3_Missense_Mutation_p.S225F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1217	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						TTGTCAGGTTCCCCCAAATCC	0.522000										HNSCC(70;0.22)				82			25		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409091	105409091	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105409091C>T	uc010axc.1	-	6	12817	c.12697G>A	c.(12697-12699)Ggc>Agc	p.G4233S	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.G4133S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4233						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTGGGGGCCCTTGAGGGCC	0.647000														235			84		0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98110041	98110041	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:98110041T>A	uc011bgw.2	+	0	532	c.532T>A	c.(532-534)Ttc>Atc	p.F178I		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CAATCATTTTTTCTGTGATGT	0.363000														93			33		0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114145514	114145514	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:114145514G>A	uc004bfe.1	-	35	4314	c.4314C>T	c.(4312-4314)acC>acT	p.T1438T		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTTCCGTCACGGTGCTCATCA	0.483000														13			10		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65464345	65464345	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:65464345C>T	uc003dmn.3	-	3	1205	c.679G>A	c.(679-681)Gat>Aat	p.D227N	MAGI1_uc003dmm.3_Missense_Mutation_p.D227N|MAGI1_uc003dmo.3_Missense_Mutation_p.D227N|MAGI1_uc003dmp.3_Missense_Mutation_p.D227N|MAGI1_uc010hny.2_Missense_Mutation_p.D111N|MAGI1_uc021xac.1_Missense_Mutation_p.D227N|MAGI1_uc003dmr.3_Missense_Mutation_p.D227N	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	227	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTTTGCATATCATTGTAGGAC	0.512000														123			31		0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116605974	116605974	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:116605974C>T	uc001lcb.3	+	9	1581	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C	FAM160B1_uc001lcc.3_Missense_Mutation_p.R416C	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	416										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TCTGCTTCATCGCATCGTTCG	0.448000														206			89		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415701	105415701	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105415701C>T	uc010axc.1	-	6	6207	c.6087G>A	c.(6085-6087)ggG>ggA	p.G2029G	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.G1929G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2029						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTCAGGTCCCCCTGCATGG	0.662000														88			86		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6685009	6685009	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6685009C>T	uc002mfm.3	-	29	4021	c.3959G>A	c.(3958-3960)cGa>cAa	p.R1320Q		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1320		Cleavage; by factor I.	R -> Q (in C3D; allotype C3'F02'; may inhibit IC3B synthesis).		G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTCTTCTGATCGCAGGAGGCT	0.597000														41			12		0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735176	55735176	+	Missense_Mutation	SNP	G	A	A	rs142455941		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55735176G>A	uc010rit.2	-	0	764	c.764C>T	c.(763-765)cCa>cTa	p.P255L		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P255Q(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAACTGATGTGGTTTGGGCTG	0.393000														43			20		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165667	172165667	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:172165667G>A	uc003fib.2	-	0	580	c.537C>T	c.(535-537)ttC>ttT	p.F179F	GHSR_uc011bpv.2_Silent_p.F179F	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	179					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CGACTAGCACGAAGATGGGCC	0.662000														51			22		0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35524582	35524582	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35524582C>T	uc002nxo.2	+	2	520	c.387C>T	c.(385-387)ttC>ttT	p.F129F	SCN1B_uc002nxp.3_Silent_p.F129F|SCN1B_uc010xsg.2_Intron	NM_199037	NP_950238	Q07699	SCN1B_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant b, mRNA.	129	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGCTCTTCTTCGAAAACTACG	0.552000														122			52		0	0	1	0	0
NMNAT1	64802	broad.mit.edu	37	1	10042714	10042714	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:10042714C>T	uc001aqp.3	+	4	939	c.795C>T	c.(793-795)gtC>gtT	p.V265V		NM_022787	NP_073624	Q9HAN9	NMNA1_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 1 (NMNAT1), mRNA.	265					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		ATGCTGGGGTCATCCTGGCCC	0.453000														37			23		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7340402	7340403	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:7340402_7340403CC>TT	uc003bqm.2	+	2	1042_1043	c.768_769CC>TT	c.(766-771)atcccc>atTTcc	p.P257S	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.P257S|GRM7_uc003bql.2_Missense_Mutation_p.P257S|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	257					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CCGTGAGAATCCCCCAGGAACG	0.470000														63			33		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48796017	48796017	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:48796017C>T	uc001zwx.2	-	16	2475	c.2080G>A	c.(2080-2082)Gaa>Aaa	p.E694K		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	694	TB 3.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGGCAAGGTTCCCCAAATGCA	0.493000														71			28		0	0	1	0	0
SLC35D2	11046	broad.mit.edu	37	9	99126776	99126776	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:99126776G>A	uc004awc.3	-	2	325	c.249C>T	c.(247-249)ttC>ttT	p.F83F	SLC35D2_uc010msd.3_Non-coding_Transcript|SLC35D2_uc010msf.3_Silent_p.F83F	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	Homo sapiens solute carrier family 35, member D2 (SLC35D2), mRNA.	83						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				CAAAATCAGGGAAGTGAATGA	0.338000														127			46		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36845839	36845839	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36845839G>A	uc002xhy.1	-	12	2989	c.2717C>T	c.(2716-2718)gCc>gTc	p.A906V	KIAA1755_uc002xhv.1_5'UTR|KIAA1755_uc002xhw.1_5'UTR|KIAA1755_uc002xhx.1_Missense_Mutation_p.A184V	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	906										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CAGCTGAGCGGCCTGCTTGGA	0.692000														19			8		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	123953720	123953720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:123953720C>T	uc003ehg.3	+	2	314	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	KALRN_uc010hrv.1_Missense_Mutation_p.R63C|KALRN_uc003ehf.1_Missense_Mutation_p.R63C|KALRN_uc011bjy.1_Missense_Mutation_p.R63C	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	63	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTTCCCTGCTCGCAGCAATCA	0.537000														12			7		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248636944	248636944	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248636944C>T	uc001iel.1	+	0	293	c.293C>T	c.(292-294)tCc>tTc	p.S98F		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			GATACCATTTCCCCGTCAGGC	0.542000														41			15		0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217124258	217124258	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:217124258G>A	uc002vgb.3	-	3	2777	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	337						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GGTGGATGAGGAGGTCCGGGG	0.637000														29			11		0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	86996206	86996206	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:86996206G>A	uc003dqn.3	-	3	1313	c.949C>T	c.(949-951)Caa>Taa	p.Q317*		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CTCTTGTCTTGATGCTGTAGA	0.378000														92			10		0	0	1	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378908	142378908	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142378908G>A	uc003waa.1	+	1	176	c.176G>A	c.(175-177)gGa>gAa	p.G59E	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CAAGATCCAGGAATGGAACTA	0.438000														110			49		0	0	1	0	0
STAP1	26228	broad.mit.edu	37	4	68424640	68424640	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:68424640G>A	uc003hde.4	+	0	195	c.113G>A	c.(112-114)gGa>gAa	p.G38E	STAP1_uc003hdf.3_Missense_Mutation_p.G38E	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	38	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AAGCGGTCAGGATACCGGGTG	0.378000														113			48		0	0	1	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203834641	203834641	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:203834641G>A	uc002uzo.2	+	10	1234	c.954_splice	c.e10-1	p.R318_splice	ALS2CR8_uc010zhz.1_Splice_Site|ALS2CR8_uc010ftu.1_Splice_Site|ALS2CR8_uc010zia.1_Splice_Site_p.R242_splice|ALS2CR8_uc010zib.1_Splice_Site_p.R242_splice|ALS2CR8_uc010zic.1_Splice_Site_p.R230_splice|ALS2CR8_uc002uzp.2_Splice_Site_p.R318_splice	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	318										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						CTTGTATAAAGGATTTACATT	0.294000														40			13		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401262	89401262	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89401262G>A	uc010upo.1	+	11	5820	c.5446G>A	c.(5446-5448)Gtt>Att	p.V1816I	ACAN_uc010upp.1_Missense_Mutation_p.V1816I|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1816					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)			CCCTGACCTGGTTTCTGGTAC	0.512000														46			17		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20634826	20634826	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20634826C>T	uc002dhm.1	-	12	1784	c.1716G>A	c.(1714-1716)aaG>aaA	p.K572K	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.K572K	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	572					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						GACCAGTCTCCTTTTTCCGAA	0.493000														67			17		0	0	1	0	0
FGF21	26291	broad.mit.edu	37	19	49261309	49261309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49261309G>A	uc002pkn.1	+	3	1034	c.462G>A	c.(460-462)cgG>cgA	p.R154R	FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Silent_p.R154R	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.	154					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)		CCCCACACCGGGACCCTGCAC	0.682000														56			36		0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011723	138011723	+	Missense_Mutation	SNP	C	T	T	rs1049289		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:138011723C>T	uc010nar.3	+	5	1176	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	OLFM1_uc004cfl.4_Missense_Mutation_p.S368F|OLFM1_uc004cfn.4_Missense_Mutation_p.S137F	NM_014279	NP_055094	Q99784	NOE1_HUMAN	Homo sapiens olfactomedin 1 (OLFM1), transcript variant 1, mRNA.	386	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding	p.G385V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GACCCCGTGTCCCTGCAGACC	0.637000														35			16		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6031893	6031893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6031893C>T	uc001qnm.2	-	1	160	c.88G>A	c.(88-90)Gga>Aga	p.G30R	ANO2_uc021qtt.1_Missense_Mutation_p.G34R	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	34						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CACTGCTGTCCATGTTTGGGG	0.662000														12			4		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919328	130919328	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:130919328C>T	uc001uil.2	-	10	2369	c.2153G>A	c.(2152-2154)aGg>aAg	p.R718K	RIMBP2_uc001uim.3_Missense_Mutation_p.R626K	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	718						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGAGGCGCCCCTCCTCTTGAA	0.627000														81			54		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354001	57354001	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:57354001C>T	uc003xsz.2	-	1	715	c.634G>A	c.(634-636)Ggc>Agc	p.G212S	PENK_uc003xta.3_Missense_Mutation_p.G212S	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	212					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CTCATGAAGCCCCCATATCGC	0.537000														89			57		0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23305332	23305332	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:23305332G>A	uc003xdl.3	-	3	545	c.273C>T	c.(271-273)atC>atT	p.I91I	ENTPD4_uc011kzu.1_Silent_p.I91I|ENTPD4_uc003xdm.3_Silent_p.I91I|ENTPD4_uc011kzv.1_Silent_p.I91I|ENTPD4_uc011kzw.1_Silent_p.I57I	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA.	91					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	p.G90E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		AGTCCACCACGATCCCATAGT	0.458000														106			30		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45224880	45224880	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:45224880G>A	uc002xsf.2	-	4	750	c.710C>T	c.(709-711)tCc>tTc	p.S237F	SLC13A3_uc010ghn.2_Missense_Mutation_p.S206F|SLC13A3_uc010zxx.2_Missense_Mutation_p.S139F|SLC13A3_uc010zxw.2_Missense_Mutation_p.P215S|SLC13A3_uc002xsg.2_Missense_Mutation_p.S190F|SLC13A3_uc010gho.2_Missense_Mutation_p.S190F	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	237						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GTAGGGGATGGAGATGAGGAA	0.577000														93			35		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24509843	24509843	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:24509843C>T	uc003jgr.2	-	6	1594	c.1088G>A	c.(1087-1089)gGa>gAa	p.G363E	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	363	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		TTTAAATGGTCCTAGGTAATA	0.373000										HNSCC(23;0.051)				57			14		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120834	38120834	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38120834C>T	uc003atr.3	+	6	2542	c.2271C>T	c.(2269-2271)tcC>tcT	p.S757S	TRIOBP_uc003atu.3_Silent_p.S585S|TRIOBP_uc003atq.1_Silent_p.S757S|TRIOBP_uc003ats.1_Silent_p.S585S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	757					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCAGAGCCTCCTCTCCTAACA	0.572000														76			38		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13719036	13719036	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13719036C>T	uc003jfd.2	-	71	12496	c.12454G>A	c.(12454-12456)Gat>Aat	p.D4152N	DNAH5_uc003jfc.2_Missense_Mutation_p.D320N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4152	AAA 6 (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)					TGTGGAGGATCGTTGGCAAAT	0.453000									Kartagener syndrome					77			25		0	0	1	0	0
GALNTL2	117248	broad.mit.edu	37	3	16242248	16242248	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:16242248G>A	uc003car.4	+	2	1304	c.829G>A	c.(829-831)Gat>Aat	p.D277N	GALNTL2_uc003caq.4_Missense_Mutation_p.D10N	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	277	Catalytic subdomain A.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						AGCCACCGGGGATGTGCTCGT	0.622000														30			17		0	0	1	0	0
WFDC11	259239	broad.mit.edu	37	20	44278037	44278037	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44278037C>T	uc002xpa.3	-	4	296	c.101_splice	c.e4-1	p.R34_splice		NM_147197	NP_671730	Q8NEX6	WFD11_HUMAN	Homo sapiens WAP four-disulfide core domain 11 (WFDC11), mRNA.	34						extracellular region				endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				ACAATTCCTTCCCTGAAATTG	0.388000														139			41		0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242151573	242151573	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242151573C>T	uc002wax.2	+	15	1891	c.1788C>T	c.(1786-1788)ttC>ttT	p.F596F		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	596						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TCTTCCAGTTCGTCAACTTCT	0.582000														77			41		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118230488	118230488	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:118230488G>A	uc004era.4	-	7	1235	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	412										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTGTTTGCGGGGATTTAAAGT	0.468000														14			13		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936978	15936978	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:15936978G>A	uc003jfn.1	+	3	1640	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	387					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GAGGGGCTGCGAGGGCATCAC	0.617000														23			7		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087069	92087069	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92087069C>T	uc001pdj.4	+	0	1808	c.1791C>T	c.(1789-1791)atC>atT	p.I597I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	597	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGTCACATCACAGCAGTCT	0.393000										TCGA Ovarian(4;0.039)				32			16		0	0	1	0	0
RHOXF2B	727940	broad.mit.edu	37	X	119293315	119293315	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:119293315C>T	uc004esl.4	+	1	664	c.474C>T	c.(472-474)ttC>ttT	p.F158F		NM_001099685	NP_115887	P0C7M4	RHF2B_HUMAN	Homo sapiens Rhox homeobox family, member 2B (RHOXF2B), mRNA.	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						GCGAGCAGTTCCCCAGTGAGT	0.652000														5			9		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87487747	87487747	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:87487747G>A	uc001kdl.1	-	9	1499	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Silent_p.F37F	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	466						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CATCTATGGAGAACCCTTTGT	0.493000										Multiple Myeloma(13;0.14)				170			30		0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176520147	176520147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176520147C>T	uc003mfl.3	+	8	1233	c.1066C>T	c.(1066-1068)Ccc>Tcc	p.P356S	FGFR4_uc003mfm.3_Missense_Mutation_p.P356S|FGFR4_uc011dfu.2_Missense_Mutation_p.P356S|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.3_Intron	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	356					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	AGAGGAGGACCCCACATGGAC	0.652000										TSP Lung(9;0.080)				43			18		0	0	1	0	0
TCEA3	6920	broad.mit.edu	37	1	23724045	23724045	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:23724045G>A	uc021oig.1	-	6	792	c.657C>T	c.(655-657)atC>atT	p.I219I	TCEA3_uc021oih.1_Silent_p.I198I	NM_003196	NP_003187	O75764	TCEA3_HUMAN	Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.	219	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TATGATCTTCGATTTCTGATG	0.498000														67			33		0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35255033	35255033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:35255033G>A	uc001wsk.3	-	13	2349	c.1781C>T	c.(1780-1782)cCc>cTc	p.P594L	BAZ1A_uc001wsl.3_Missense_Mutation_p.P562L	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	594					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CACTAGACTGGGATTGCTCAA	0.428000														125			12		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207872548	207872548	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207872548G>A	uc001hga.4	+	7	1278	c.1157G>A	c.(1156-1158)gGc>gAc	p.G386D	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	386	Sushi 6.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAATTAAAAGGCAGCTCTGCT	0.423000											OREG0014195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		93			32		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184765166	184765166	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:184765166C>T	uc001gra.3	-	13	1926	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	FAM129A_uc001grb.1_Missense_Mutation_p.E341K	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	578					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GACACACTTTCACTGGGCAAG	0.463000														97			24		0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230338999	230338999	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:230338999C>T	uc010pwa.1	+	2	409	c.337C>T	c.(337-339)Cga>Tga	p.R113*	GALNT2_uc010pvy.1_Nonsense_Mutation_p.R75*|GALNT2_uc010pvz.1_Non-coding_Transcript	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	113					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGATAAGCTTCGAATGGACAG	0.537000														97			42		0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57970781	57970781	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57970781G>A	uc010rkb.2	-	0	873	c.873C>T	c.(871-873)ttC>ttT	p.F291F		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	291					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)				TCACCACAGTGAATAGGACAG	0.453000														123			60		0	0	1	0	0
MSMB	4477	broad.mit.edu	37	10	51562358	51562358	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:51562358G>A	uc001jiq.3	+	3	335	c.303G>A	c.(301-303)aaG>aaA	p.K101K	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|MSMB_uc001jir.3_Missense_Mutation_p.R66K|NCOA4_uc009xon.3_5'Flank|NCOA4_uc010qhd.2_5'Flank|NCOA4_uc001jis.4_5'Flank|NCOA4_uc010qhe.2_5'Flank|NCOA4_uc010qhf.2_5'Flank	NM_002443	NP_002434	P08118	MSMB_HUMAN	Homo sapiens microseminoprotein, beta- (MSMB), transcript variant PSP94, mRNA.	101						extracellular space|nucleus				lung(4)|ovary(2)|prostate(1)	7						TGGAGAAGAAGGACCCAAAAA	0.468000														169			18		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484999	97484999	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:97484999C>T	uc001vmw.3	+	1	987	c.963C>T	c.(961-963)ggC>ggT	p.G321G		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	321						integral to membrane	sulfotransferase activity	p.V320M(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GCCTGGTGGGCTGCTATAACT	0.512000														71			29		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72036313	72036313	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:72036313G>A	uc001swo.2	-	5	1889	c.1530C>T	c.(1528-1530)tcC>tcT	p.S510S		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	510					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCTTATCTAAGGATCGCCTCA	0.373000														146			42		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947774	165947774	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:165947774C>T	uc002ucx.3	-	27	5381	c.4889G>A	c.(4888-4890)cGa>cAa	p.R1630Q	SCN3A_uc010zcy.2_Missense_Mutation_p.R113Q|SCN3A_uc002ucy.3_Missense_Mutation_p.R1581Q|SCN3A_uc002ucz.3_Missense_Mutation_p.R1581Q	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1630						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ACGTAGGATTCGGCCAATCCT	0.478000														113			52		0	0	1	0	0
DAZL	1618	broad.mit.edu	37	3	16636058	16636058	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:16636058C>T	uc003cba.3	-	7	951	c.663G>A	c.(661-663)agG>agA	p.R221R	DAZL_uc003cbb.3_Silent_p.R201R	NM_001190811	NP_001177740	Q92904	DAZL_HUMAN	Homo sapiens deleted in azoospermia-like (DAZL), transcript variant 1, mRNA.	201					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						CAACATAGCTCCTTTGCTCCC	0.308000														31			18		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111037	7111037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7111037G>A	uc001mfc.2	+	0	873	c.686G>A	c.(685-687)cGg>cAg	p.R229Q		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	229	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding	p.R229Q(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGCGAACCCCGGGGTTTTGCC	0.701000														19			13		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156814576	156814576	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156814576G>A	uc010pht.2	-	12	2796	c.2497C>T	c.(2497-2499)Ctt>Ttt	p.L833F	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	833	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGCGCAGAAGGACACTGTTC	0.617000														55			22		0	0	1	0	0
AQPEP	206338	broad.mit.edu	37	5	115348125	115348125	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:115348125C>T	uc003kro.3	+	14	2466	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	768					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AACTATAATTCGTGAAAATGT	0.289000														134			39		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160784397	160784397	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160784397G>A	uc001fwu.3	+	3	968	c.918G>A	c.(916-918)agG>agA	p.R306R	LY9_uc010pjs.1_Silent_p.R306R|LY9_uc001fwv.3_Silent_p.R306R|LY9_uc001fww.3_Silent_p.R306R|LY9_uc001fwy.1_Silent_p.R208R|LY9_uc001fwz.3_5'UTR	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	306	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTAAATCCAGGGATCCTTACA	0.532000														54			6		0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45322051	45322051	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45322051C>T	uc002ozu.3	+	9	1292	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	BCAM_uc002ozt.1_Silent_p.F416F	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	416	Ig-like C2-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CTATCACCTTCGATTCCAATG	0.627000														96			54		0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144359624	144359624	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:144359624C>T	uc003ijd.3	+	3	1425	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S	GAB1_uc003ije.3_Missense_Mutation_p.P356S|GAB1_uc011chq.2_Missense_Mutation_p.P253S	NM_207123	NP_997006	Q13480	GAB1_HUMAN	Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA.	356					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TGACCGATCTCCTGTGGAAAC	0.498000														88			27		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46263977	46263977	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:46263977C>T	uc011bzc.1	-	7	1272	c.860G>A	c.(859-861)tGg>tAg	p.W287*	GABRA2_uc003gxc.3_Nonsense_Mutation_p.W342*|GABRA2_uc010igc.2_Nonsense_Mutation_p.W342*|GABRA2_uc003gxe.3_Nonsense_Mutation_p.W342*			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	342					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATCCCAAGCCCATCCTCTTTT	0.383000														111			33		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99932090	99932090	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:99932090G>A	uc001pga.3	+	9	1631	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	CNTN5_uc009ywv.2_Missense_Mutation_p.G376E|CNTN5_uc001pfz.3_Missense_Mutation_p.G376E|CNTN5_uc021qpb.1_Missense_Mutation_p.G376E|CNTN5_uc021qpc.1_Missense_Mutation_p.G302E	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	376	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.R375H(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AACTCACGTGGAAAAAATTCC	0.423000														50			31		0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450081	158450081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158450081G>A	uc010pik.2	+	0	414	c.414G>A	c.(412-414)atG>atA	p.M138I	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M138I(2)|p.V137V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGGGTGTGATGGGTTATGATC	0.483000														272			92		0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150471471	150471471	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:150471471C>T	uc001euq.3	+	11	1507	c.1500C>T	c.(1498-1500)ggC>ggT	p.G500G	TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Silent_p.G418G|TARS2_uc009wlt.3_Silent_p.G126G|TARS2_uc009wls.3_Silent_p.G370G	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	500					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGCCATCTGGCTTCCTGGGGG	0.562000														125			10		0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74684153	74684153	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:74684153G>A	uc001jte.1	+	6	1336	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	OIT3_uc009xqs.1_Intron	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	373	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CCCAACCTTCGAAACTCCCCA	0.512000														59			22		0	0	1	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12253142	12253142	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12253142C>T	uc001att.3	+	5	863	c.774C>T	c.(772-774)ttC>ttT	p.F258F	TNFRSF1B_uc001atu.3_Silent_p.F63F|TNFRSF1B_uc009vnk.3_Non-coding_Transcript	NM_001066	NP_001057	P20333	TNR1B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1B (TNFRSF1B), mRNA.	258					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	CTGGCGACTTCGCTCTTCCAG	0.547000														30			4		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221228	118221228	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:118221228C>T	uc004era.4	-	10	3965	c.3965G>A	c.(3964-3966)aGg>aAg	p.R1322K		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1322										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTAGAATTCCTCCACTCTTT	0.488000														157			49		0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54048724	54048724	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:54048724G>A	uc004dsu.3	-	3	615	c.369C>T	c.(367-369)ttC>ttT	p.F123F	PHF8_uc004dst.3_Silent_p.F87F|PHF8_uc004dsw.3_Silent_p.F87F|PHF8_uc004dsy.3_Silent_p.F87F	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	123					G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GCTCTCTGACGAACGTAGGGC	0.537000														44			59		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27350447	27350447	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:27350447G>A	uc003cdt.2	-	10	960	c.686C>T	c.(685-687)tCc>tTc	p.S229F		NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	229							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGCCAGAAGGGAACCCAATAG	0.333000														22			8		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566292	155566292	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:155566292G>A	uc002tyv.1	+	1	1075	c.880G>A	c.(880-882)Gag>Aag	p.E294K	KCNJ3_uc010zce.1_Intron|KCNJ3_uc021vrh.1_Missense_Mutation_p.E294K	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	294					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TGAACAGTTCGAGATTGTCGT	0.408000														67			17		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825532	4825532	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4825532G>A	uc021qcs.1	-	0	79	c.79C>T	c.(79-81)Cag>Tag	p.Q27*		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCACAACTGGAAACTCTCC	0.498000														43			13		0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52827674	52827674	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52827674C>T	uc001saj.2	-	0	437	c.415G>A	c.(415-417)Gac>Aac	p.D139N		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	139	Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		ATGGTGGGGTCGATTTGCAGG	0.592000														102			49		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174830	150174830	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150174830G>A	uc003whj.3	+	4	2290	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	654						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)		GTCCCAAGCCGAAAAACTCCT	0.463000														65			22		0	0	1	0	0
MECP2	4204	broad.mit.edu	37	X	153296314	153296314	+	Missense_Mutation	SNP	G	A	A	rs63749747		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:153296314G>A	uc004fjv.2	-	3	1191	c.965C>T	c.(964-966)cCc>cTc	p.P322L	MECP2_uc004fjw.2_Missense_Mutation_p.P334L	NM_004992	NP_004983	P51608	MECP2_HUMAN	Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA.	322			P -> A (in RTT).|P -> L (in RTT).|P -> S (in MRXS13).		negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCAGCAGGGGCTTCACCAC	0.597000														27			42		0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103326685	103326685	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:103326685T>A	uc001vpi.4	+	26	3488	c.3385T>A	c.(3385-3387)Tgt>Agt	p.C1129S		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	1129					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAGGAAAGGTTGTGCCCTGGC	0.433000														59			25		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31405603	31405603	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31405603G>A	uc010cap.1	+	1	127	c.78G>A	c.(76-78)acG>acA	p.T26T	ITGAD_uc010vfl.1_Silent_p.T26T|ITGAD_uc002ebv.1_Silent_p.T26T	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	26					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGAGCCTACGATCTTCCAGG	0.572000														48			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179414324	179414324	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179414324C>T	uc021vsy.1	-	286	84646	c.84421G>A	c.(84421-84423)Gat>Aat	p.D28141N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D21836N|TTN_uc021vta.1_Missense_Mutation_p.D21769N|TTN_uc021vtb.1_Missense_Mutation_p.D21644N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29068	Fibronectin type-III 105.						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)			ACCACTGGATCAGAATCAAGT	0.373000														99			25		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243490	56243490	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56243490G>A	uc002qly.3	-	1	1735	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	569						cytoplasm	ATP binding	p.F569F(2)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAATATAAATGAAAACTTCTT	0.343000														45			18		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288793	107288793	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107288793C>T	uc011lvn.2	-	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CTTGTGTCTTCCTGTGGCCGA	0.428000														117			55		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126732423	126732423	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:126732423C>T	uc003kuh.4	+	6	974	c.612C>T	c.(610-612)gaC>gaT	p.D204D	MEGF10_uc010jdc.1_Silent_p.D204D|MEGF10_uc010jdd.1_Silent_p.D204D|MEGF10_uc003kui.4_Silent_p.D204D	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	204	EGF-like 3.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CCACCTGCGACCACGTCACGG	0.637000														78			18		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439392	150439392	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150439392C>T	uc022apw.1	+	5	917	c.777C>T	c.(775-777)tcC>tcT	p.S259S	GIMAP1-GIMAP5_uc003whr.2_Silent_p.S55S	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		TGTTTGAGTCCAAGCTGAGGG	0.562000														62			27		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25281301	25281301	+	Silent	SNP	C	T	T	rs148902783		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25281301C>T	uc010aaa.3	+	15	2661	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F	ATP12A_uc001upp.3_Silent_p.F770F	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	770					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ACGACAACTTCGCATCCATCG	0.552000														49			19		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152768620	152768620	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:152768620G>A	uc021zhb.1	-	26	3865	c.3642C>T	c.(3640-3642)ttC>ttT	p.F1214F	SYNE1_uc003qot.4_Silent_p.F1221F|SYNE1_uc003qou.4_Silent_p.F1214F|SYNE1_uc010kjb.1_Silent_p.F1197F|SYNE1_uc003qow.3_Silent_p.F509F|SYNE1_uc003qox.1_Silent_p.F730F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1214					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.S1213F(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAAGAGCCTTGAAAGAGCTGG	0.453000										HNSCC(10;0.0054)				22			21		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41012789	41012789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41012789C>T	uc003jmj.4	-	29	3521	c.3031G>A	c.(3031-3033)Gaa>Aaa	p.E1011K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E566K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1011							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						TCCAGCATTTCCTCTAGGAAC	0.458000														81			25		0	0	1	0	0
SRD5A3	79644	broad.mit.edu	37	4	56225558	56225558	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:56225558C>T	uc003hau.3	+	1	383	c.267C>T	c.(265-267)ttC>ttT	p.F89F		NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	Homo sapiens steroid 5 alpha-reductase 3 (SRD5A3), mRNA.	89					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			GGAATGGCTTCCTGCTTTGGT	0.463000														250			59		0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692388	116692388	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:116692388C>T	uc001pps.1	-	2	490	c.386G>A	c.(385-387)cGa>cAa	p.R129Q		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ctgaagctctcgcaggttgtc	0.662000														12			3		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57918040	57918040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:57918040C>T	uc002aei.3	+	4	606	c.475C>T	c.(475-477)Cgt>Tgt	p.R159C	GCOM1_uc002aej.3_Missense_Mutation_p.R159C|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Intron|GCOM1_uc002aem.3_Missense_Mutation_p.R159C|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.R159C	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	159					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TGCCCTGGATCGTTTTAATGC	0.483000														43			23		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135140051	135140051	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135140051G>A	uc004cbk.3	-	25	7792	c.7609C>T	c.(7609-7611)Cag>Tag	p.Q2537*	SETX_uc004cbj.3_Nonsense_Mutation_p.Q2185*|SETX_uc010mzt.3_Nonsense_Mutation_p.Q2123*	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	2537					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CGTGGGTCCTGAAGTTGGTCA	0.502000														107			14		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430058	43430058	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43430058C>T	uc002ovl.4	-	5	1209	c.1107G>A	c.(1105-1107)ggG>ggA	p.G369G	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Silent_p.G248G	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	370	Ig-like C2-type 3.				female pregnancy	extracellular region							Prostate(69;0.00682)				GCTGAAACTTCCCATTAATTG	0.458000														298			94		0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42439523	42439523	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42439523C>T	uc001zoz.3	-	12	1310	c.1218G>A	c.(1216-1218)agG>agA	p.R406R	PLA2G4F_uc010bcq.3_5'Flank|PLA2G4F_uc001zoy.3_Silent_p.R38R|PLA2G4F_uc001zpa.3_Silent_p.R157R|PLA2G4F_uc010bcr.3_Silent_p.R157R|PLA2G4F_uc010bcs.3_Silent_p.R193R	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	406	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGGCTGGGTCCCTGTAGAGTG	0.632000														35			17		0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125805353	125805353	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:125805353C>T	uc001lhn.3	-	1	1110	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	CHST15_uc001lhm.3_Missense_Mutation_p.E126K|CHST15_uc010que.2_Missense_Mutation_p.E126K|CHST15_uc001lho.3_Missense_Mutation_p.E126K	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	126					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	p.E126K(2)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CTTGGGTTTTCGCTGTCCATC	0.438000														178			82		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9106080	9106080	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:9106080C>T	uc003brf.1	-	5	1348	c.672_splice	c.e5+1	p.K224_splice	SRGAP3_uc003brg.1_Splice_Site_p.K224_splice|SRGAP3_uc003bri.1_Splice_Site|SRGAP3_uc003brk.3_Splice_Site_p.K224_splice|SRGAP3_uc003brj.1_Splice_Site_p.K84_splice	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	224					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCCCACTCACCTTCTCCTTCA	0.607000			T	RAF1	pilocytic astrocytoma									69			26		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163393520	163393520	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:163393520G>A	uc002uch.2	-	2	607	c.378C>T	c.(376-378)atC>atT	p.I126I	KCNH7_uc002uci.3_Silent_p.I126I	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	126	PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CAAAATTAATGATGAACATCA	0.363000														139			61		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33589863	33589863	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33589863G>A	uc002xbi.2	+	43	6232	c.5915G>A	c.(5914-5916)cGg>cAg	p.R1972Q		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1930						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTGCGGGCACGGACCCGGGAC	0.647000											OREG0025884	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			14		0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910613	35910613	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35910613C>T	uc003jjt.1	-	2	265	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	CAPSL_uc003jju.1_Missense_Mutation_p.R57Q	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	57	EF-hand 1.					cytoplasm	calcium ion binding	p.R57Q(2)|p.R57*(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			ATCAAGGGTTCGATTATTATC	0.308000														49			15		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13735244	13735244	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13735244A>G	uc003jfd.2	-	67	11799	c.11757T>C	c.(11755-11757)atT>atC	p.I3919I	DNAH5_uc003jfc.2_Silent_p.I87I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3919					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)					ATTGACCTTTAATAAGAGTGA	0.413000									Kartagener syndrome					47			18		0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39125543	39125543	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:39125543C>T	uc003awg.3	+	10	1947	c.1793C>T	c.(1792-1794)cCc>cTc	p.P598L		NM_004286	NP_004277	O00178	GTPB1_HUMAN	Homo sapiens GTP binding protein 1 (GTPBP1), mRNA.	598					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					AAAAAGGGCCCCCTGACGAAA	0.607000														22			7		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228461637	228461637	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228461637C>A	uc009xez.1	+	17	5348	c.5304C>A	c.(5302-5304)gcC>gcA	p.A1768A	OBSCN_uc001hsn.3_Silent_p.A1768A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1768	Fibronectin type-III 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATGAGACAGCCAGCCAGGGGG	0.657000														12			4		0.00909568	0.00909857	1	1	0
EPB41L5	57669	broad.mit.edu	37	2	120903838	120903838	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:120903838C>T	uc002tmg.3	+	19	1957	c.1766C>T	c.(1765-1767)gCc>gTc	p.A589V	EPB41L5_uc010fll.3_Missense_Mutation_p.A589V|EPB41L5_uc010flm.3_Missense_Mutation_p.A393V	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	589						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CATAAAAATGCCAATGTTCAG	0.294000														28			14		0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151304099	151304099	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:151304099G>A	uc003lut.3	-	0	299	c.12C>T	c.(10-12)ttC>ttT	p.F4F	GLRA1_uc003lur.3_Silent_p.F4F|GLRA1_uc003lus.3_5'UTR	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	4					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAAGAGTATTGAAGCTGTACA	0.428000														139			34		0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160482654	160482654	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:160482654C>T	uc003qta.3	+	23	3530	c.3382C>T	c.(3382-3384)Ctc>Ttc	p.L1128F		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1128					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTGCAATCCTCTCCCTTACAT	0.493000														58			47		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56663310	56663310	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56663310C>T	uc010dcz.2	-	17	3058	c.2940G>A	c.(2938-2940)agG>agA	p.R980R	TEX14_uc002iwr.2_Silent_p.R974R|TEX14_uc002iws.2_Silent_p.R974R|TEX14_uc010dda.2_Silent_p.R754R	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	980						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTCTGGGCTCCTAATGGGGG	0.517000														121			58		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35763096	35763096	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:35763096G>A	uc011axy.2	+	12	1106	c.894_splice	c.e12-1	p.R298_splice	ARPP21_uc003cga.3_Splice_Site_p.R278_splice|ARPP21_uc003cgb.3_Splice_Site_p.R332_splice|ARPP21_uc003cgf.3_Splice_Site_p.R133_splice|ARPP21_uc003cgg.3_5'Flank	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	332						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TCGTACTCCAGGGGCAACAGA	0.527000														22			5		0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50823956	50823956	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50823956T>C	uc002pru.1	-	2	2359	c.2064A>G	c.(2062-2064)gaA>gaG	p.E688E	KCNC3_uc002prt.1_Silent_p.E324E	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	688					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GGCTCTTGTCTTCCGGGGACA	0.657000														39			12		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26695000	26695000	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:26695000C>T	uc001mra.2	-	13	1969	c.1656G>A	c.(1654-1656)aaG>aaA	p.K552K	SLC5A12_uc001mrb.2_Non-coding_Transcript	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	552					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GTGTTTTGTACTTCTTAGACC	0.383000														140			59		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201016711	201016711	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201016711C>T	uc001gvv.3	-	36	4712	c.4485G>A	c.(4483-4485)aaG>aaA	p.K1495K		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1495					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCAGATCTTCTTGATGATGG	0.527000														58			18		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688639	26688639	+	Missense_Mutation	SNP	C	T	T	rs151261975		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26688639C>T	uc003acb.3	+	1	558	c.362C>T	c.(361-363)tCg>tTg	p.S121L	SEZ6L_uc003acd.3_Missense_Mutation_p.S121L|SEZ6L_uc011akd.2_Missense_Mutation_p.S121L|SEZ6L_uc003ace.3_Missense_Mutation_p.S121L|SEZ6L_uc011akc.2_Missense_Mutation_p.S121L|SEZ6L_uc003acc.3_Missense_Mutation_p.S121L|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	121						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AAACTGCCTTCGCTCAAGCAG	0.652000														33			9		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57476410	57476410	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57476410C>T	uc009vzx.1	-	13	1946	c.1626G>A	c.(1624-1626)ggG>ggA	p.G542G	DAB1_uc001cyt.1_Silent_p.G540G|DAB1_uc001cyq.1_Silent_p.G540G|DAB1_uc001cyr.1_Silent_p.G456G|DAB1_uc009vzw.1_Silent_p.G524G|DAB1_uc001cys.1_Silent_p.G542G	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	575					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CACTGGGCTCCCCACTGGGCT	0.448000														129			12		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19483563	19483563	+	Missense_Mutation	SNP	G	A	A	rs142982513		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19483563G>A	uc002dgc.4	+	10	2685	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	TMC5_uc010vaq.2_Intron|TMC5_uc002dgb.4_Missense_Mutation_p.E646K|TMC5_uc010var.2_Missense_Mutation_p.E646K|TMC5_uc002dgd.1_Missense_Mutation_p.E400K|TMC5_uc002dge.4_Missense_Mutation_p.E400K|TMC5_uc002dgf.4_Missense_Mutation_p.E329K|TMC5_uc002dgg.4_Missense_Mutation_p.E287K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	646						integral to membrane		p.E400K(1)		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						GTACAACTTAGAGGTAACCAA	0.562000														39			21		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119953070	119953070	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:119953070C>T	uc010inb.3	+	3	3336	c.3140C>T	c.(3139-3141)tCc>tTc	p.S1047F	SYNPO2_uc010ina.3_Missense_Mutation_p.S1047F|SYNPO2_uc003icm.4_Missense_Mutation_p.S1047F|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Intron|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	1047						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTCAGTGCATCCCCAGTGCCT	0.532000														53			19		0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66482982	66482982	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:66482982C>T	uc003tvn.3	+	5	862	c.713C>T	c.(712-714)tCc>tTc	p.S238F	TYW1_uc010lai.3_Non-coding_Transcript	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	238					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AAGTTCATCTCCCAGCTGCAG	0.547000														32			19		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3440797	3440797	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3440797G>A	uc001akl.3	-	4	722	c.495C>T	c.(493-495)tgC>tgT	p.C165C	MEGF6_uc001akk.3_Silent_p.C60C	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	165	EGF-like 2; calcium-binding (Potential).					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TGTGGGTTCGGCATTCGTCCA	0.647000														49			18		0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9801402	9801402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:9801402C>T	uc003bst.3	-	8	963	c.778G>A	c.(778-780)Gac>Aac	p.D260N	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_Missense_Mutation_p.D34N|AX748417_uc003bsv.1_5'Flank	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	260	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TTCTCTGGGTCCTTCTCCATC	0.517000														159			78		0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57473361	57473361	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:57473361G>A	uc004dvc.3	+	9	1266	c.1117_splice	c.e9-1	p.E373_splice		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	373						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TCAATCTCAGGAACCTGTGAA	0.363000										HNSCC(52;0.14)				9			6		0	0	1	0	0
PRRT2	112476	broad.mit.edu	37	16	29824999	29824999	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:29824999C>T	uc002dud.2	+	1	925	c.624C>T	c.(622-624)tcC>tcT	p.S208S	BOLA2_uc010bzb.1_Intron|AK097472_uc002duc.1_5'Flank|PRRT2_uc002due.4_Silent_p.S208S|PRRT2_uc002duf.1_Silent_p.S208S|C16orf53_uc002dug.4_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	Homo sapiens proline-rich transmembrane protein 2 (PRRT2), transcript variant 1, mRNA.	208	Pro-rich.				response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						CAAAAAAATCCCCCCCAGCCA	0.622000														11			3		0	0	1	0	0
GALP	85569	broad.mit.edu	37	19	56696615	56696615	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56696615G>A	uc002qmo.1	+	5	409	c.327G>A	c.(325-327)aaG>aaA	p.K109K	GALP_uc010eti.2_3'UTR	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA.	109					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		AAATTCCCAAGGAGGAAGATG	0.448000														39			15		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61865750	61865750	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61865750G>A	uc001jky.3	-	27	3579	c.3241C>T	c.(3241-3243)Cga>Tga	p.R1081*	ANK3_uc001jkw.3_Nonsense_Mutation_p.R215*|ANK3_uc009xpa.3_Nonsense_Mutation_p.R215*|ANK3_uc001jkx.3_Nonsense_Mutation_p.R259*|ANK3_uc010qih.2_Nonsense_Mutation_p.R1082*|ANK3_uc001jkz.4_Nonsense_Mutation_p.R1075*|ANK3_uc001jla.1_Nonsense_Mutation_p.R147*|ANK3_uc001jlb.1_Nonsense_Mutation_p.R599*	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1081	ZU5.				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						TTTTCACTTCGAAGAACAATG	0.383000														62			14		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204981969	204981969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204981969G>A	uc010prc.2	+	25	3495	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	NFASC_uc001hbj.3_Missense_Mutation_p.E1156K|NFASC_uc010pra.2_Missense_Mutation_p.E1090K|NFASC_uc001hbi.3_Missense_Mutation_p.E1085K|NFASC_uc010prb.2_Missense_Mutation_p.E1105K|NFASC_uc001hbl.2_Missense_Mutation_p.E232K|NFASC_uc001hbm.2_Missense_Mutation_p.E179K|NFASC_uc009xbh.2_Silent_p.R10R|NFASC_uc001hbo.2_Silent_p.R31R			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	1263	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGACCCCAAGGAAGAGGATGG	0.542000														93			33		0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150955861	150955861	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:150955861C>T	uc001ewa.2	+	3	593	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_003568	NP_003559	O76027	ANXA9_HUMAN	Homo sapiens annexin A9 (ANXA9), mRNA.	41					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|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)			TCTTGAACTTCAGCGTGGACA	0.607000														17			7		0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121631514	121631514	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:121631514G>A	uc003idn.3	-	14	1928	c.1678C>T	c.(1678-1680)Ctg>Ttg	p.L560L	PRDM5_uc003ido.3_Silent_p.L529L|PRDM5_uc010ine.3_Missense_Mutation_p.P500L	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	560					histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCTCATCCAGGCCTCGCTTC	0.473000														35			17		0	0	1	0	0
CD27	939	broad.mit.edu	37	12	6554368	6554368	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6554368G>A	uc001qod.3	+	0	318	c.107G>A	c.(106-108)gGa>gAa	p.G36E	CD27-AS1_uc001qob.2_Intron|CD27-AS1_uc009zel.1_Intron	NM_001242	NP_001233	P26842	CD27_HUMAN	Homo sapiens CD27 molecule (CD27), mRNA.	36					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						TGGGCTCAGGGAAAGCTGTGC	0.602000														19			5		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2096748	2096748	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:2096748C>T	uc003zhc.3	+	19	3074	c.2975C>T	c.(2974-2976)tCt>tTt	p.S992F	SMARCA2_uc003zhd.3_Missense_Mutation_p.S992F|SMARCA2_uc010mha.3_Missense_Mutation_p.S925F	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	992					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ACAGATGGTTCTGAGAAAGAT	0.448000														99			13		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40652086	40652086	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:40652086G>A	uc002yxk.2	-	8	1215	c.920C>T	c.(919-921)tCc>tTc	p.S307F	BRWD1_uc021wjf.1_Missense_Mutation_p.S307F|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Missense_Mutation_p.S27F	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AAATTTTAAGGATTCTAAATC	0.328000														54			16		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177249620	177249620	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:177249620C>T	uc001glf.3	+	7	1620	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	FAM5B_uc001glg.3_Silent_p.F331F	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	436						extracellular region				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						CTGGCACTTTCCTGGAACAGA	0.577000														74			27		0	0	1	0	0
FAM187B	148109	broad.mit.edu	37	19	35715768	35715768	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35715768G>A	uc002nyk.1	-	1	1115	c.1070C>T	c.(1069-1071)tCc>tTc	p.S357F		NM_152481	NP_689694	Q17R55	F187B_HUMAN	Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.	357						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CCTGCCCGGGGAAGGGTGGAT	0.677000														26			19		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50147111	50147111	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:50147111G>A	uc010njr.2	-	4	1058	c.1014C>T	c.(1012-1014)acC>acT	p.T338T		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	338					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGCAGTGCTGGGTCCGGTGGC	0.433000														13			21		0	0	1	0	0
STX5	6811	broad.mit.edu	37	11	62574950	62574950	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62574950G>A	uc001nvh.3	-	10	1216	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	NXF1_uc001nvf.1_5'Flank|NXF1_uc001nvg.1_5'Flank|NXF1_uc009yog.1_5'Flank|NXF1_uc010rmh.1_5'Flank|STX5_uc010rmj.2_3'UTR|STX5_uc010rmi.2_Silent_p.F257F	NM_003164	NP_003155	Q13190	STX5_HUMAN	Homo sapiens syntaxin 5 (STX5), transcript variant 1, mRNA.	353					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|SNARE complex|integral to membrane|nucleus	SNAP receptor activity|protein N-terminus binding			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TTCAAGCAAGGAAGACCACAA	0.527000														29			5		0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681549	55681549	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55681549C>T	uc010rir.2	-	0	510	c.510G>A	c.(508-510)ggG>ggA	p.G170G		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCTCATTAGACCCACAGAAGC	0.433000														118			15		0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201356012	201356012	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201356012C>T	uc001gwm.3	-	2	712	c.477G>A	c.(475-477)gaG>gaA	p.E159E	LAD1_uc009wzu.1_Silent_p.E181E	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	159						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCACCAAGCTCTCCTCCTCCA	0.587000														116			21		0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123932070	123932070	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:123932070G>A	uc004bkx.1	+	36	6283	c.6252G>A	c.(6250-6252)cgG>cgA	p.R2084R	CNTRL_uc004blb.1_Silent_p.R753R|CNTRL_uc010mvp.1_Silent_p.R34R	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	2084	Required for centrosome localization.|Sufficient for interaction with HOOK2.				G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGATCCAGCGGAGCCAGCTGG	0.468000														69			28		0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17246733	17246733	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:17246733C>T	uc011aby.1	+	23	3114	c.2897C>T	c.(2896-2898)tCc>tTc	p.S966F	USP25_uc002yjz.1_Missense_Mutation_p.S928F|USP25_uc010gla.1_Missense_Mutation_p.S291F|USP25_uc002yjy.1_Missense_Mutation_p.S896F	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	896					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TATATAGATTCCTTGCTGTTC	0.284000														51			26		0	0	1	0	0
PGAM2	5224	broad.mit.edu	37	7	44102378	44102378	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44102378C>T	uc003tjs.3	-	2	805	c.747G>A	c.(745-747)caG>caA	p.Q249Q		NM_000290	NP_000281	P15259	PGAM2_HUMAN	Homo sapiens phosphoglycerate mutase 2 (muscle) (PGAM2), mRNA.	249					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						TGGCCTTGCCCTGGGCAGCCA	0.617000														42			4		0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129873956	129873956	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:129873956G>A	uc003igp.2	-	13	1692	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	SCLT1_uc003ign.2_Nonsense_Mutation_p.R60*|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	396						centrosome		p.S395F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCTGTTAATCGAGAAATTTGT	0.259000														104			37		0	0	1	0	0
POP4	10775	broad.mit.edu	37	19	30099604	30099604	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:30099604C>T	uc002nsf.2	+	1	104	c.48C>T	c.(46-48)gaC>gaT	p.D16D	POP4_uc002nsg.2_Missense_Mutation_p.T10I	NM_006627	NP_006618	O95707	RPP29_HUMAN	Homo sapiens processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) (POP4), transcript variant 1, mRNA.	16					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	RNA binding|identical protein binding|ribonuclease P activity			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			AGGCGAATGACTCCGATGTCC	0.483000														127			11		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98744710	98744710	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:98744710C>T	uc002syo.3	+	5	975	c.711C>T	c.(709-711)tcC>tcT	p.S237S	VWA3B_uc010yvh.2_Silent_p.S87S|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Silent_p.S237S|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	237								p.E236K(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGATTGAATCCATTTACTACT	0.478000														125			45		0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182563248	182563248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:182563248C>T	uc003flb.3	+	8	964	c.707C>T	c.(706-708)cCt>cTt	p.P236L		NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	236					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTTCCTAGACCTCTGGGGCCG	0.333000														44			9		0	0	1	0	0
SIX1	6495	broad.mit.edu	37	14	61115508	61115508	+	Missense_Mutation	SNP	T	C	C	rs80356460		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:61115508T>C	uc001xfb.4	-	0	648	c.400A>G	c.(400-402)Aag>Gag	p.K134E		NM_005982	NP_005973	Q15475	SIX1_HUMAN	Homo sapiens SIX homeobox 1 (SIX1), mRNA.	134					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CCCCTCGACTTCTCCTTGAAG	0.662000														55			31		0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140055526	140055526	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140055526G>A	uc004clk.3	+	8	1546	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	GRIN1_uc004cli.1_Missense_Mutation_p.E81K|GRIN1_uc004clj.1_Missense_Mutation_p.E403K|GRIN1_uc004cln.3_Missense_Mutation_p.E427K|GRIN1_uc004clo.3_Missense_Mutation_p.E427K|GRIN1_uc004clm.3_Missense_Mutation_p.E406K|GRIN1_uc004cll.3_Missense_Mutation_p.E406K	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	406					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GATCCACCAGGAGCCCTTCGT	0.627000														48			14		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32289578	32289578	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:32289578C>T	uc011alu.2	+	38	4246	c.4044C>T	c.(4042-4044)gtC>gtT	p.V1348V	DEPDC5_uc011als.2_Silent_p.V1248V|DEPDC5_uc003als.3_Silent_p.V1317V|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.V1339V|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Silent_p.V766V|DEPDC5_uc003alw.3_Silent_p.V615V|DEPDC5_uc011alx.2_Silent_p.V165V|DEPDC5_uc010gwk.3_Silent_p.V343V|DEPDC5_uc011aly.2_Silent_p.V165V	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1317					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTGCCACTGTCCCAGAGCAGA	0.493000														55			26		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999578	46999578	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:46999578C>T	uc001jec.3	+	2	833	c.698C>T	c.(697-699)gCt>gTt	p.A233V	GPRIN2_uc021ppt.1_Missense_Mutation_p.A233V	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	233			A -> S (in dbSNP:rs11204659).							breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCCCCAGCTGCTCTACTCTGT	0.632000														48			5		0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44687287	44687287	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44687287C>T	uc003tln.3	+	3	605	c.446C>T	c.(445-447)cCc>cTc	p.P149L	OGDH_uc003tlm.3_Missense_Mutation_p.P149L|OGDH_uc011kbx.2_Intron|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Intron|OGDH_uc011kbz.2_5'UTR|OGDH_uc003tlo.1_5'UTR	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	149					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CAGCTGGACCCCCTGGGGATT	0.522000														53			26		0	0	1	0	0
CYBRD1	79901	broad.mit.edu	37	2	172409859	172409859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:172409859C>T	uc002ugy.4	+	2	596	c.406C>T	c.(406-408)Ctt>Ttt	p.L136F	CYBRD1_uc002ugz.4_Missense_Mutation_p.S66F	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	Homo sapiens cytochrome b reductase 1 (CYBRD1), transcript variant 1, mRNA.	136	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						TGTTTAGCTTCTTTCAGGTTT	0.328000														70			22		0	0	1	0	0
MYOG	4656	broad.mit.edu	37	1	203054976	203054976	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203054976C>T	uc001gzd.3	-	0	402	c.114G>A	c.(112-114)acG>acA	p.T38T		NM_002479	NP_002470	P15173	MYOG_HUMAN	Homo sapiens myogenin (myogenic factor 4) (MYOG), mRNA.	38					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						GGGTGAGCTCCGTCCGCTCGT	0.652000														48			20		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171254565	171254565	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171254565G>A	uc009wvz.3	+	8	1617	c.1481G>A	c.(1480-1482)cGa>cAa	p.R494Q	FMO1_uc010pme.2_Missense_Mutation_p.R431Q|FMO1_uc001ghl.3_Missense_Mutation_p.R494Q|FMO1_uc001ghm.3_Missense_Mutation_p.R494Q	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	494					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAGTGGGACCGAACATTCAAG	0.478000														37			46		0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49896972	49896972	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49896972C>T	uc003cxt.1	-	10	1478	c.1285G>A	c.(1285-1287)Gcc>Acc	p.A429T	TRAIP_uc003cxs.1_5'Flank|TRAIP_uc010hla.1_5'Flank|TRAIP_uc011bcx.2_5'Flank|CAMKV_uc011bcy.1_Missense_Mutation_p.A354T|CAMKV_uc003cxv.1_Missense_Mutation_p.A401T|CAMKV_uc003cxw.1_Missense_Mutation_p.A261T|CAMKV_uc003cxx.1_Missense_Mutation_p.A261T|CAMKV_uc003cxu.2_Missense_Mutation_p.A398T|CAMKV_uc011bcz.1_Missense_Mutation_p.A361T|CAMKV_uc011bda.1_Missense_Mutation_p.A355T	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	429	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCATCAGTGGCTGGAGTAGCG	0.632000														72			40		0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129642196	129642196	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:129642196C>T	uc022bnn.1	+	0	506	c.506C>T	c.(505-507)tCt>tTt	p.S169F	ZBTB34_uc004bqm.4_Missense_Mutation_p.S169F	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCATATTGCTCTCAGGGACGG	0.587000														57			38		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179453325	179453325	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179453325C>T	uc021vsy.1	-	252	55648	c.55423G>A	c.(55423-55425)Gaa>Aaa	p.E18475K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E12170K|TTN_uc021vta.1_Missense_Mutation_p.E12103K|TTN_uc021vtb.1_Missense_Mutation_p.E11978K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19402	Ig-like 106.						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)			ATTCCAATTTCATTTTCTGCC	0.448000														228			98		0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37211306	37211306	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:37211306C>T	uc010xtl.2	+	5	1902	c.1680C>T	c.(1678-1680)tcC>tcT	p.S560S	ZNF567_uc002oeo.1_Silent_p.S560S|ZNF567_uc010xtk.1_Silent_p.S560S|ZNF567_uc002oep.4_Silent_p.S529S|ZNF567_uc002oeq.1_Silent_p.S529S	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GCCAGAAATCCTATGAATGTC	0.413000														114			11		0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428761	120428761	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:120428761G>A	uc003vjk.3	-	7	1177	c.803C>T	c.(802-804)tCt>tTt	p.S268F	TSPAN12_uc010lkj.3_Missense_Mutation_p.S141F	NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	268					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					CAGGTGCTGAGAGTTGTCATT	0.453000														112			56		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208218435	208218435	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:208218435G>A	uc001hgz.3	-	18	4374	c.3616C>T	c.(3616-3618)Ctc>Ttc	p.L1206F		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1206	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGCCCGGTGAGGTTGGGAGGC	0.582000														59			23		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335885	57335885	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57335885G>A	uc002qnu.2	-	0	490	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.Q47*|PEG3_uc002qnv.2_Nonsense_Mutation_p.Q47*|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Nonsense_Mutation_p.Q47*	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	47	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CGAAACCTCTGATGAAAAAAC	0.502000														56			13		0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53223912	53223912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:53223912G>A	uc004drz.3	-	22	3980	c.3447C>T	c.(3445-3447)gcC>gcT	p.A1149A	KDM5C_uc022bxe.1_Silent_p.A1082A|KDM5C_uc004dsa.3_Silent_p.A1148A	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	1149					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCTCCTTGAAGGCCACGATCT	0.612000			"""N, F, S"""		clear cell renal carcinoma									12			10		0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281283	49281283	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:49281283C>T	uc010acw.1	+	1	620	c.330C>T	c.(328-330)gcC>gcT	p.A110A	CYSLTR2_uc010acx.1_Silent_p.A110A|CYSLTR2_uc010acy.1_Silent_p.A110A|CYSLTR2_uc010acz.1_Silent_p.A110A|CYSLTR2_uc010ada.1_Silent_p.A110A|CYSLTR2_uc010adb.1_Silent_p.A110A|CYSLTR2_uc010adc.1_Silent_p.A110A|CYSLTR2_uc010add.1_Silent_p.A110A|CYSLTR2_uc001vck.2_Silent_p.A110A|CYSLTR2_uc021rjl.1_Silent_p.A110A	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	110					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GAGACCTGGCCTGCAGGATTA	0.453000														71			46		0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	427062	427062	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:427062G>A	uc002cgu.4	-	3	739	c.610C>T	c.(610-612)Ctc>Ttc	p.L204F	TMEM8A_uc002cgv.4_Missense_Mutation_p.L11F	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	Homo sapiens transmembrane protein 8A (TMEM8A), mRNA.	204					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TGGGAGAGGAGGGTCTGAGGA	0.657000											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		47			10		0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37892456	37892456	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37892456C>T	uc003asx.1	-	13	2076	c.2059_splice	c.e13+1	p.A687_splice	CARD10_uc003ast.1_Splice_Site|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_Splice_Site_p.A5_splice|CARD10_uc003asw.1_Splice_Site_p.A401_splice|CARD10_uc003asy.1_Splice_Site_p.A687_splice	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	687					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CCAGACTTACCCTTCGAGTCC	0.642000														38			12		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027323	55027323	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:55027323G>A	uc002lgn.3	+	3	1315	c.958G>A	c.(958-960)Gga>Aga	p.G320R		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	320					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CCACTTGTATGGATTTTGGCC	0.423000														51			16		0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735093	41735093	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:41735093C>T	uc003azw.3	+	8	930	c.714C>T	c.(712-714)gcC>gcT	p.A238A		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	254					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACCTGCTGGCCCCCCTGGACA	0.667000														126			46		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39358846	39358846	+	Missense_Mutation	SNP	G	A	A	rs121434355		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:39358846G>A	uc001uwv.3	+	5	6229	c.5920G>A	c.(5920-5922)Gag>Aag	p.E1974K	FREM2_uc001uww.3_Missense_Mutation_p.E60K	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1974	Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTACGAGGAGGAGGAAACCTT	0.498000														59			35		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481610	140481610	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140481610C>T	uc003lio.3	+	0	1377	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	459	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.F459F(2)|p.F459S(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.602000														199			86		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412170	19412170	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19412170G>A	uc010tcj.1	-	0		c.33940C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TCACTGACCAGACATAATCAG	0.532000														120			15		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36330510	36330510	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36330510C>T	uc002oby.3	-	21	2972	c.2816_splice	c.e21-1	p.S939_splice	NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	939	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCAGGGCGGCCTATGGGGAGA	0.502000														70			17		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285643	223285643	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:223285643C>T	uc021pjl.1	-	0	731	c.731G>A	c.(730-732)gGa>gAa	p.G244E	TLR5_uc001hnv.2_Missense_Mutation_p.G244E|TLR5_uc001hnw.2_Missense_Mutation_p.G244E	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	244					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GCTAAAGTTTCCTGTGATGTC	0.468000														107			41		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371224	240371224	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240371224G>A	uc010pye.2	+	5	3349	c.3124G>A	c.(3124-3126)Gga>Aga	p.G1042R	FMN2_uc010pyd.2_Missense_Mutation_p.G1038R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1038	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCACTTCCCGGAGCGGGCAT	0.731000														47			12		0	0	1	0	0
ANKRD2	26287	broad.mit.edu	37	10	99337563	99337563	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:99337563C>T	uc001knw.3	+	1	384	c.175C>T	c.(175-177)Cga>Tga	p.R59*	ANKRD2_uc009xvu.3_Nonsense_Mutation_p.R59*	NM_020349	NP_065082	Q9GZV1	ANKR2_HUMAN	Homo sapiens ankyrin repeat domain 2 (stretch responsive muscle) (ANKRD2), transcript variant 1, mRNA.	59					muscle contraction|muscle organ development		structural constituent of muscle	p.R59*(2)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CCAGAAACTCCGAGGAGACGC	0.607000														2			2		0	0	1	0	0
FAM53B	9679	broad.mit.edu	37	10	126370409	126370409	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:126370409G>A	uc001lhv.1	-	3	1196	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	FAM53B_uc001lhu.1_Silent_p.L225L|FAM53B_uc001lhw.3_Silent_p.L225L	NM_014661	NP_055476	Q14153	FA53B_HUMAN	Homo sapiens family with sequence similarity 53, member B (FAM53B), mRNA.	225										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GACCGCTGCAGGTCCAGCCGG	0.642000														14			5		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263760	39263760	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:39263760C>T	uc001uwv.3	+	0	2588	c.2279C>T	c.(2278-2280)aCc>aTc	p.T760I		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	760					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCACTGGGTACCTTGGTCTTG	0.527000														69			21		0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209961966	209961966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:209961966C>T	uc001hhq.2	-	8	1507	c.1203G>A	c.(1201-1203)atG>atA	p.M401I	IRF6_uc010psm.2_Missense_Mutation_p.M306I	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	401					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R400R(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCTCGTAGATCATCCGAGCCA	0.453000										HNSCC(57;0.16)				22			4		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203125	56203125	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:56203125C>T	uc002lhj.4	-	4	4508	c.4294G>A	c.(4294-4296)Gaa>Aaa	p.E1432K	ALPK2_uc002lhk.1_Missense_Mutation_p.E763K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1432							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGACCCCCTTCTCTGGCGCCC	0.512000														91			17		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43819408	43819408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43819408G>A	uc001zrt.3	+	3	6204	c.5737G>A	c.(5737-5739)Gaa>Aaa	p.E1913K		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1913						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCGCAAGGCTGAAGGGGAAAG	0.597000														71			21		0	0	1	0	0
RPUSD2	27079	broad.mit.edu	37	15	40866204	40866204	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40866204C>T	uc001zmd.1	+	2	1382	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	RPUSD2_uc021sjh.1_Missense_Mutation_p.A400V	NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 2 (RPUSD2), mRNA.	461	Poly-Ala.				pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		GCTGCAGCTGCCCAGAAGATG	0.552000														89			29		0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110249798	110249798	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:110249798G>A	uc004bdh.3	-	2	1471	c.850C>T	c.(850-852)Cct>Tct	p.P284S	KLF4_uc004bdf.2_Missense_Mutation_p.P243S|KLF4_uc022blk.1_Intron|KLF4_uc004bdg.3_Missense_Mutation_p.P293S	NM_004235	NP_004226	O43474	KLF4_HUMAN	Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.	293	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						TTGCTGAGAGGGGGTCCAGCG	0.701000														17			4		0	0	1	0	0
DHDH	27294	broad.mit.edu	37	19	49442727	49442727	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49442727C>T	uc002ple.1	+	3	428	c.388C>T	c.(388-390)Cct>Tct	p.P130S		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	Homo sapiens dihydrodiol dehydrogenase (dimeric) (DHDH), mRNA.	130					carbohydrate metabolic process		D-xylose 1-dehydrogenase (NADP+) activity|NAD(P)+ transhydrogenase activity|binding|electron carrier activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		CCGCTTCTTTCCTGCCTCCGA	0.567000														101			59		0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	318966	318966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:318966G>A	uc001qhz.3	-	3	851	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	SLC6A12_uc001qia.3_Missense_Mutation_p.P63S|SLC6A12_uc001qib.3_Missense_Mutation_p.P63S|SLC6A12_uc009zdh.2_Missense_Mutation_p.P63S|SLC6A12_uc009zdi.1_Intron	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	63					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)			CAGAGATAGGGAAACCTCCAG	0.577000														138			33		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240774	126240774	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126240774G>A	uc003ifj.4	+	0	3208	c.3208G>A	c.(3208-3210)Gtt>Att	p.V1070I		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1070	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTTTTAATGGTTGTTGCTTC	0.373000														172			68		0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41759219	41759219	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:41759219C>T	uc003ckv.4	-	23	2656	c.2455_splice	c.e23+1	p.G819_splice		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	819							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTCCAATTTACCCAGGATTCG	0.453000														68			19		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48685383	48685383	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48685383G>A	uc003cuf.1	-	21	7230	c.7230C>T	c.(7228-7230)gcC>gcT	p.A2410A	CELSR3_uc010hkg.3_Silent_p.A323A|CELSR3_uc003cul.3_Silent_p.A2340A	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2340					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTAGCGACGGGCCCCCCGGG	0.632000														150			43		0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38296443	38296443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:38296443C>T	uc001wuj.3	+	11	1462	c.1360C>T	c.(1360-1362)Cat>Tat	p.H454Y	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.H357Y|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TGGGGTGATTCATGAGTTTAT	0.363000														81			38		0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145038021	145038021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:145038021G>A	uc003ijo.4	-	4	459	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Missense_Mutation_p.R82C|GYPA_uc003ijp.4_Missense_Mutation_p.R83C|GYPA_uc010ioq.3_Missense_Mutation_p.R102C|GYPA_uc010ior.3_Missense_Mutation_p.R50C|GYPA_uc010ios.1_Non-coding_Transcript	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	115					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					ATCAGTCGGCGAATACCGTAA	0.368000														97			41		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15376433	15376433	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15376433G>A	uc002nar.3	-	4	803	c.581C>T	c.(580-582)tCc>tTc	p.S194F	BRD4_uc002nas.3_Missense_Mutation_p.S194F|BRD4_uc002nat.3_Missense_Mutation_p.S194F|BRD4_uc002nau.4_Missense_Mutation_p.S194F	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	194					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGGTACCGTGGAAACGCCAGG	0.567000			T	C15orf55	lethal midline carcinoma of young people									178			69		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236902625	236902625	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:236902625G>A	uc001hyf.2	+	9	1104	c.900G>A	c.(898-900)acG>acA	p.T300T	ACTN2_uc001hyg.2_Silent_p.T92T|ACTN2_uc009xgi.1_Silent_p.T300T|ACTN2_uc010pxu.1_Intron	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	300					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding	p.T300T(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TTCGTCGCACGATCCCCTGGC	0.532000														141			61		0	0	1	0	0
CD8B	926	broad.mit.edu	37	2	87085384	87085384	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:87085384G>A	uc002srw.3	-	1	258	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_Missense_Mutation_p.H67Y|CD8B_uc002sry.3_Missense_Mutation_p.H67Y|CD8B_uc010fgt.3_Missense_Mutation_p.H67Y|CD8B_uc002srz.3_Missense_Mutation_p.H67Y|CD8B_uc010yto.2_Missense_Mutation_p.H67Y	NM_172213	NP_757362	P10966	CD8B_HUMAN	Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA.	67	Ig-like V-type.				T cell activation|immune response|regulation of defense response to virus by virus|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	T cell receptor complex|early endosome|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						AGGAACTCGTGGTGACTGTCA	0.547000														89			7		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088099	86088099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:86088099C>T	uc021rxf.1	+	0	241	c.241C>T	c.(241-243)Cct>Tct	p.P81S	FLRT2_uc001xvr.3_Missense_Mutation_p.P81S|FLRT2_uc010atd.3_Missense_Mutation_p.P81S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	81					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGCTGGATTTCCTGCAGAACT	0.488000														84			29		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229706	21229706	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21229706G>A	uc002red.3	-	25	10162	c.10034C>T	c.(10033-10035)tCa>tTa	p.S3345L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3345					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATGACACTTGATTTAAAGGA	0.368000														136			42		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94100891	94100891	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94100891G>A	uc001ybv.1	+	29	5359	c.5276G>A	c.(5275-5277)gGa>gAa	p.G1759E	UNC79_uc001ybs.1_Missense_Mutation_p.G1737E	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1914						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						ATGAAAAGGGGATCCCTGGGA	0.468000														78			31		0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111342415	111342415	+	Missense_Mutation	SNP	G	A	A	rs138877502		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:111342415G>A	uc001trv.1	+	10	1561	c.1366G>A	c.(1366-1368)Gac>Aac	p.D456N	CCDC63_uc010sye.1_Missense_Mutation_p.D416N|CCDC63_uc001trw.1_Missense_Mutation_p.D371N	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	456								p.D456N(2)|p.N455K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GAAGACCAACGACCTGCTGCT	0.597000														90			32		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157562	22157562	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22157562C>T	uc021urr.1	-	3	423	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	ZNF208_uc002nqo.1_Missense_Mutation_p.E92K	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)				AAAGAATCTTCTATGCCCTGC	0.318000														41			19		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106518487	106518487	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106518487G>A	uc021ser.1	-	2195		c.39466C>T								Parts of antibodies, mostly variable regions.																		CTCTGGAGATGGTGAATCGGC	0.542000														281			126		0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609298	32609298	+	Silent	SNP	C	T	T	rs36219014		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32609298C>T	uc003obr.3	+	1	347	c.294C>T	c.(292-294)atC>atT	p.I98I	HLA-DQA1_uc003obs.3_Non-coding_Transcript|HLA-DQA1_uc003obt.1_Silent_p.I98I|HLA-DQA1_uc003obu.3_5'Flank|HLA-DQA1_uc021yvy.1_5'Flank	NM_002122	NP_002113	P01909	DQA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA.	97	Alpha-1.		L -> M (in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06 and allele DQA1*01:07).|L -> V (in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03).		T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						ACTTGAACATCATGATTAAAC	0.478000														23			44		0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366642	248366642	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248366642C>T	uc010pzg.2	+	0	273	c.273C>T	c.(271-273)tcC>tcT	p.S91S		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S91S(2)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAGCAAGTCCATTTCTATGG	0.498000														394			156		0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595350	44595350	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44595350G>A	uc001clp.3	+	1	465	c.407G>A	c.(406-408)gGa>gAa	p.G136E	KLF17_uc009vxf.1_Missense_Mutation_p.G99E	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	136					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					ATGCCCGTAGGAGAGCCCAAT	0.542000														58			36		0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31483684	31483684	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:31483684T>A	uc002rnu.3	+	3	1419	c.811T>A	c.(811-813)Ttt>Att	p.F271I	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	271					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCGGAAGCTCTTTGAGGCTGA	0.592000														107			28		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50813007	50813008	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50813007_50813008CC>TT	uc010enu.1	+	42	6118_6119	c.6071_6072CC>TT	c.(6070-6072)tcc>tTT	p.S2024F	MYH14_uc002prq.1_Missense_Mutation_p.S1991F|MYH14_uc002prr.1_Missense_Mutation_p.S1983F|MYH14_uc010ycb.2_Missense_Mutation_p.S334F|MYH14_uc002prs.1_Missense_Mutation_p.S334F	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1983					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCTGGGCCATCCCCGGAGCCTG	0.683000														5			5		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110456078	110456078	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110456078G>A	uc003yne.3	+	36	4842	c.4738G>A	c.(4738-4740)Gaa>Aaa	p.E1580K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1580	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			AACAGTAAATGAACTAATAAC	0.328000										HNSCC(38;0.096)				64			49		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51387787	51387787	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:51387787C>T	uc011bds.2	+	39	4094	c.4071C>T	c.(4069-4071)gtC>gtT	p.V1357V		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1357	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCTTTCGGGTCGGCTTCTATG	0.438000														115			49		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51261219	51261219	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:51261219G>A	uc003tps.3	-	2	498	c.313C>T	c.(313-315)Ctt>Ttt	p.L105F	COBL_uc003tpr.4_Missense_Mutation_p.L105F|COBL_uc011kcl.2_Missense_Mutation_p.L105F|COBL_uc010kzc.3_Missense_Mutation_p.L105F|COBL_uc003tpt.3_Missense_Mutation_p.L105F|COBL_uc003tpp.4_5'Flank|COBL_uc003tpq.4_Missense_Mutation_p.L21F	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	105										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CGAATTTCAAGGGCATGGTGG	0.408000														82			6		0	0	1	0	0
SDSL	113675	broad.mit.edu	37	12	113875773	113875773	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113875773C>T	uc001tvi.3	+	8	1086	c.879C>T	c.(877-879)gcC>gcT	p.A293A	SDSL_uc009zwh.3_Silent_p.A293A	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN	Homo sapiens serine dehydratase-like (SDSL), mRNA.	293					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	GGCTCCAGGCCGAGGGCTGCC	0.607000														253			70		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22447294	22447294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22447294C>T	uc010tmm.2	+	1	467	c.275C>T	c.(274-276)tCc>tTc	p.S92F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Non-coding_Transcript					Homo sapiens mRNA for unknown variable region, clone: SEB 74.																		AGTCAAACTTCCTTCCACTTG	0.483000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		81			23		0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476457	17476457	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17476457C>T	uc002ngk.1	-	2	857	c.817G>A	c.(817-819)Gac>Aac	p.D273N		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	273						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCATGTGGTCGCAGGCTCTG	0.637000														59			14		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427318	135427318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:135427318C>T	uc004ezu.1	+	5	1744	c.1453C>T	c.(1453-1455)Cct>Tct	p.P485S	GPR112_uc010nsb.1_Missense_Mutation_p.P280S|GPR112_uc010nsc.1_Missense_Mutation_p.P252S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	485					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCTGTATTTCCTAGAAACCA	0.448000														40			28		0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76046247	76046247	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76046247C>T	uc002jud.2	+	3	1704	c.1104C>T	c.(1102-1104)gtC>gtT	p.V368V	TNRC6C_uc002juf.2_Silent_p.V368V|TNRC6C_uc002jue.2_Silent_p.V368V	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	368	Gly-rich.|Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GTCCTAGTGTCACCAGCCAGA	0.527000														61			19		0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152883916	152883916	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152883916C>T	uc021ozl.1	+	0	1643	c.1643C>T	c.(1642-1644)gCt>gTt	p.A548V	IVL_uc001fau.3_Missense_Mutation_p.A548V	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	548					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTTGCCCCAGCTCCAGGCCAG	0.592000														42			16		0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750359	142750359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142750359G>A	uc011ksv.2	+	0	922	c.922G>A	c.(922-924)Ggc>Agc	p.G308S		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GAGGCTGAAAGGCCTTTGCAA	0.542000														20			10		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55285069	55285069	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55285069G>A	uc010erz.1	+	2	393	c.355G>A	c.(355-357)Gac>Aac	p.D119N	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.D119N	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	119					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TGACCCTCTGGACATCGTGAT	0.522000														297			106		0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43054643	43054643	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:43054643C>T	uc003xpx.4	+	17	1887	c.1839C>T	c.(1837-1839)atC>atT	p.I613I		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	641					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CTCAGAACATCGTCGCCACTG	0.498000														22			8		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54914527	54914527	+	Missense_Mutation	SNP	C	T	T	rs141439711	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54914527C>T	uc021smr.1	+	28	6103	c.6103C>T	c.(6103-6105)Cgt>Tgt	p.R2035C	UNC13C_uc021sms.1_Missense_Mutation_p.R2037C|UNC13C_uc002acm.3_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2037					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.Q2035P(1)		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)		ATTTTCAGGTCGTTCCTCCAA	0.398000														61			28		0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165383593	165383593	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:165383593C>T	uc002ucl.3	-	3	1075	c.534G>A	c.(532-534)ggG>ggA	p.G178G	GRB14_uc010zcv.2_Silent_p.G91G	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	178	Ras-associating.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CTTCTTCTATCCCCCAGTTGG	0.328000														74			28		0	0	1	0	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864206	31864206	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:31864206C>T	uc002yog.1	-	0	70	c.70G>A	c.(70-72)Ggc>Agc	p.G24S		NM_181609	NP_853640	Q7Z4W3	KR193_HUMAN	Homo sapiens keratin associated protein 19-3 (KRTAP19-3), mRNA.	24						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						CAGCCATAGCCATAGCCCAGG	0.572000														225			81		0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24858320	24858320	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:24858320G>A	uc001upd.2	+	6	2790	c.2212G>A	c.(2212-2214)Ggt>Agt	p.G738S	SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Missense_Mutation_p.G738S|SPATA13_uc001upg.2_Missense_Mutation_p.G113S|SPATA13_uc010tcy.1_Missense_Mutation_p.G59S|SPATA13_uc010tcz.2_Missense_Mutation_p.G59S|SPATA13_uc010tdb.2_Missense_Mutation_p.G35S|SPATA13_uc010tda.2_Missense_Mutation_p.G57S|SPATA13_uc001uph.3_Missense_Mutation_p.G35S	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	113					cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GGATGACAACGgtagtgagga	0.493000														30			17		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377997	113377997	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:113377997G>A	uc003eam.3	-	6	2943	c.2532C>T	c.(2530-2532)ttC>ttT	p.F844F	KIAA2018_uc003eal.3_Silent_p.F788F	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	844					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ACACAGCAGGGAAGCTTTCTA	0.473000														50			18		0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33289581	33289581	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33289581G>A	uc003oec.3	-	1	326	c.122C>T	c.(121-123)tCc>tTc	p.S41F	DAXX_uc021ywn.1_Missense_Mutation_p.S41F|DAXX_uc021ywo.1_Missense_Mutation_p.S41F|DAXX_uc011dre.2_Missense_Mutation_p.S53F|DAXX_uc003oed.3_Missense_Mutation_p.S41F|DAXX_uc011drd.2_Intron|DAXX_uc010juw.2_5'UTR	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	41	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGGCTCAGAGGAGCTAGGGGC	0.587000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									224			116		0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6422908	6422908	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6422908G>A	uc001qnr.3	+	2	400	c.252G>A	c.(250-252)ggG>ggA	p.G84G	PLEKHG6_uc001qns.3_Silent_p.G84G|PLEKHG6_uc010sew.2_Silent_p.G84G|PLEKHG6_uc010sex.2_Silent_p.G52G	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	84					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AGAGGCACGGGGGCCATGTGG	0.642000														61			7		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1507763	1507763	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1507763C>T	uc002qwr.3	+	13	2516	c.2430C>T	c.(2428-2430)gcC>gcT	p.A810A	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.A810A|TPO_uc002qwx.3_Silent_p.A753A|TPO_uc002qwu.3_Silent_p.A753A|TPO_uc010yio.2_Silent_p.A637A|TPO_uc010yip.2_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	810	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCTGCCACGCCTCTGCGAGGT	0.627000														43			21		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48286115	48286115	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:48286115C>T	uc010rht.2	+	0	703	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GCACAAGGCCCTCTCCACCTG	0.537000														40			44		0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238725807	238725807	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:238725807C>T	uc002vxi.4	+	2	380	c.248C>T	c.(247-249)tCa>tTa	p.S83L		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	82							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CCATTTTTTTCAGTGAGTCAA	0.333000														61			28		0	0	1	0	0
BIRC2	329	broad.mit.edu	37	11	102221052	102221052	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102221052T>A	uc001pgy.3	+	1	1866	c.467T>A	c.(466-468)cTt>cAt	p.L156H	BIRC2_uc010ruq.2_Missense_Mutation_p.L107H|BIRC2_uc010rur.2_Missense_Mutation_p.L156H	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	Homo sapiens baculoviral IAP repeat containing 2 (BIRC2), mRNA.	156					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TACTCCAGCCTTTCTCCAAAC	0.418000														150			32		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157669500	157669500	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157669500G>A	uc001fqz.4	-	2	326	c.34C>T	c.(34-36)Cct>Tct	p.P12S	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'Flank|FCRL3_uc001frb.3_Missense_Mutation_p.P12S|FCRL3_uc001frc.1_Missense_Mutation_p.P12S	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	12						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTCTTCCAGGAGCTGTGAGG	0.468000														25			11		0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71153328	71153328	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:71153328C>T	uc001oqk.3	-	4	643	c.393G>A	c.(391-393)gaG>gaA	p.E131E	DHCR7_uc001oql.3_Silent_p.E131E	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	131					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	TCACGGCCCCCTCCTGGATGC	0.602000									Smith-Lemli-Opitz syndrome					11			5		0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19178917	19178917	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:19178917G>A	uc021wle.1	-	26	4297	c.4222C>T	c.(4222-4224)Ctg>Ttg	p.L1408L	CLTCL1_uc021wld.1_3'UTR|CLTCL1_uc021wlc.1_3'UTR|CLTCL1_uc021wlf.1_Silent_p.L1408L|CLTCL1_uc011agw.1_Silent_p.L1387L|CLTCL1_uc011agt.2_Silent_p.L199L|CLTCL1_uc011agu.2_Silent_p.L199L	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1408	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TAGAACTGCAGGGCTCTGTAA	0.532000			T	?	ALCL									74			40		0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118621455	118621455	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:118621455G>A	uc003ebw.3	-	6	1455	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	IGSF11_uc011biv.2_Missense_Mutation_p.S375F|IGSF11_uc003ebx.3_Missense_Mutation_p.S379F|IGSF11_uc003eby.3_Missense_Mutation_p.S402F|IGSF11_uc003ebz.3_Missense_Mutation_p.S378F|IGSF11_uc010hqs.3_Missense_Mutation_p.S402F	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	Homo sapiens immunoglobulin superfamily, member 11 (IGSF11), transcript variant 2, mRNA.	403					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GATGGTGTAGGAATGAGTGTG	0.547000														89			37		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177249597	177249597	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:177249597G>A	uc001glf.3	+	7	1597	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	FAM5B_uc001glg.3_Missense_Mutation_p.E324K	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	429						extracellular region				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						CTACTGTGGGGAAAGCACCTT	0.542000														81			32		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38988326	38988326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38988326G>A	uc021wvy.1	-	1	539	c.340C>T	c.(340-342)Cct>Tct	p.P114S		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	114					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GAATTGAAAGGCCCAAAAATG	0.373000														84			36		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128496919	128496919	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128496919C>T	uc003vnz.4	+	44	7714	c.7505C>T	c.(7504-7506)gCt>gTt	p.A2502V	FLNC_uc003voa.4_Missense_Mutation_p.A2469V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2502	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAGAGCCAGGCTGGGGACCCA	0.627000														43			8		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017372	93017372	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:93017372C>T	uc022axs.1	-	5	1076	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	RUNX1T1_uc003yfc.2_Missense_Mutation_p.E211K|RUNX1T1_uc010mam.3_Missense_Mutation_p.E211K|RUNX1T1_uc003yfe.2_Missense_Mutation_p.E201K|RUNX1T1_uc003yfd.3_Missense_Mutation_p.E238K|RUNX1T1_uc022axo.1_Missense_Mutation_p.E238K|RUNX1T1_uc010mao.3_Missense_Mutation_p.E211K|RUNX1T1_uc011lgi.2_Missense_Mutation_p.E249K|RUNX1T1_uc022axp.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axq.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axr.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axt.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axu.1_Missense_Mutation_p.E218K|RUNX1T1_uc022axv.1_Missense_Mutation_p.E238K|RUNX1T1_uc003yfb.2_Missense_Mutation_p.E201K|RUNX1T1_uc003yff.1_Missense_Mutation_p.E201K	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	238	Poly-Pro.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E238K(1)|p.E201K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCCCGTTTTCGTTCACATCG	0.542000														127			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596633	179596633	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179596633G>A	uc021vsy.1	-	54	13462	c.13237C>T	c.(13237-13239)Ctg>Ttg	p.L4413L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L1074L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5340	Ig-like 24.						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)			ACCTCAGCCAGCAACATGACA	0.403000														103			28		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104044282	104044282	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:104044282T>C	uc001tjw.3	+	10	1369	c.1183T>C	c.(1183-1185)Tat>Cat	p.Y395H		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	395	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGACAAAGCTTATGCCTGGCC	0.458000														44			14		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107811990	107811990	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:107811990G>A	uc022ccg.1	+	6	524	c.322_splice	c.e6-1	p.G108_splice	COL4A5_uc004enz.1_Splice_Site_p.G108_splice	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	108	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTTCAAAGGGAATGCCAGGC	0.423000									Alport syndrome with Diffuse Leiomyomatosis					78			17		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179609144	179609144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179609144G>A	uc010pnp.2	+	9	2209	c.1691G>A	c.(1690-1692)gGa>gAa	p.G564E	TDRD5_uc021pfm.1_Missense_Mutation_p.G564E|TDRD5_uc001gnf.2_Missense_Mutation_p.G564E|TDRD5_uc021pfn.1_Missense_Mutation_p.G564E|TDRD5_uc001gnh.2_Missense_Mutation_p.G119E	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	564	Tudor.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CCAGACTTTGGAAATATTGGA	0.393000														170			62		0	0	1	0	0
C19orf21	126353	broad.mit.edu	37	19	757886	757886	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:757886C>T	uc002lpo.3	+	1	1023	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	314										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGGGCTTCGGCAGGCAAC	0.687000														24			15		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161318012	161318012	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:161318012C>T	uc010jiw.3	+	8	1280	c.812C>T	c.(811-813)tCc>tTc	p.S271F	GABRA1_uc010jix.3_Missense_Mutation_p.S271F|GABRA1_uc010jiy.3_Missense_Mutation_p.S271F|GABRA1_uc003lyx.4_Missense_Mutation_p.S271F|GABRA1_uc010jiz.3_Missense_Mutation_p.S271F|GABRA1_uc010jja.3_Missense_Mutation_p.S271F|GABRA1_uc010jjb.3_Missense_Mutation_p.S271F	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	271					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TCACAAGTCTCCTTCTGGCTC	0.413000														80			20		0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40719516	40719516	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40719516C>T	uc002ona.3	+	8	2218	c.1930C>T	c.(1930-1932)Ccc>Tcc	p.P644S		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	644					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCCTGCCGAGCCCTccccggg	0.761000														26			6		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57931689	57931689	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:57931689C>T	uc002aei.3	+	9	1196	c.1065C>T	c.(1063-1065)caC>caT	p.H355H	GCOM1_uc002aej.3_Silent_p.H355H|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Silent_p.H355H|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Silent_p.H355H	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	355					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GGATCAGACACCTAGATGACA	0.498000														47			8		0	0	1	0	0
DBNDD2	55861	broad.mit.edu	37	20	44037095	44037095	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44037095C>T	uc002xof.3	+	0	467	c.294C>T	c.(292-294)ccC>ccT	p.P98P	DBNDD2_uc002xnx.3_Intron|DBNDD2_uc021wei.1_Intron|DBNDD2_uc002xnz.3_Intron|DBNDD2_uc002xoa.3_Intron|DBNDD2_uc021wej.1_Intron|DBNDD2_uc002xob.3_Silent_p.P94P|DBNDD2_uc002xoc.3_Intron|DBNDD2_uc002xod.3_Intron|DBNDD2_uc002xog.3_Silent_p.P98P	NM_001048225	NP_001041690	Q9BQY9	DBND2_HUMAN	Homo sapiens dysbindin (dystrobrevin binding protein 1) domain containing 2 (DBNDD2), transcript variant 5, mRNA.	94					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CTCCTCTACCCGCAGGAGCTG	0.602000														120			12		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11780534	11780534	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:11780534C>T	uc002rbk.1	+	32	6104	c.5804C>T	c.(5803-5805)gCc>gTc	p.A1935V	GREB1_uc002rbp.1_Missense_Mutation_p.A933V	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1935						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACCGCCAATGCCAGGGAAGAC	0.602000														126			21		0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62943454	62943454	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:62943454C>A	uc001sre.3	+	22	3151	c.2760C>A	c.(2758-2760)tcC>tcA	p.S920S	MON2_uc010ssn.2_Silent_p.S920S|MON2_uc009zqj.3_Silent_p.S920S|MON2_uc010ssl.2_Silent_p.S848S|MON2_uc010ssm.2_Silent_p.S897S|MON2_uc001srf.3_Silent_p.S683S	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	921					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TCAGAGAATCCTTGATACGAA	0.378000														103			14		1.15088e-07	1.15385e-07	1	1	0
ABHD15	116236	broad.mit.edu	37	17	27889807	27889807	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:27889807G>A	uc002hed.2	-	1	1237	c.1179C>T	c.(1177-1179)ggC>ggT	p.G393G		NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA.	393						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGCGCAGGAAGCCACAGTGGC	0.592000														34			28		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825473	26825473	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:26825473G>A	uc001zbb.3	-	6	946	c.843C>T	c.(841-843)ttC>ttT	p.F281F	GABRB3_uc021sgg.1_Silent_p.F154F|GABRB3_uc021sgh.1_Silent_p.F140F|GABRB3_uc001zaz.3_Silent_p.F225F|GABRB3_uc001zba.3_Silent_p.F225F	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	225					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CACCTGTGGCGAAGACAACAT	0.572000														63			31		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770514	31770514	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:31770514G>A	uc002nsy.4	-	1	250	c.185C>T	c.(184-186)tCc>tTc	p.S62F		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	62					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCGGCCGGGGAGTTCTGGTA	0.587000														14			15		0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178423749	178423749	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:178423749C>T	uc001glq.3	+	11	2941	c.2177C>T	c.(2176-2178)tCc>tTc	p.S726F	RASAL2_uc001glr.3_Missense_Mutation_p.S578F|RASAL2_uc009wxc.3_Missense_Mutation_p.S92F	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	578					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GTTTTGCATTCCTTACTGTGG	0.413000														93			23		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202010	140202010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140202010G>A	uc003lhl.2	+	0	650	c.650G>A	c.(649-651)gGa>gAa	p.G217E	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_uc003lhk.1_Missense_Mutation_p.G217E|PCDHAC2_uc003lhj.1_Missense_Mutation_p.G217E	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	233	Cadherin 2.				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)			ACTGATGGAGGAAAACCCGAA	0.358000														125			46		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38412636	38412636	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38412636C>T	uc003jlc.2	+	10	1726	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	EGFLAM_uc003jlb.2_Silent_p.I460I|EGFLAM_uc003jle.2_Silent_p.I226I|EGFLAM_uc003jlf.2_5'UTR	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	460	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTGCCATCATCGTAAGTGAGA	0.488000														83			44		0	0	1	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106054664	106054664	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106054664G>A	uc001yrt.3	-	1	118	c.87C>T	c.(85-87)gtC>gtT	p.V29V	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		GGCATGCGACGACCACGTTCC	0.637000														46			20		0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99367785	99367785	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99367785G>A	uc003urv.2	-	4	499	c.392C>T	c.(391-393)tCa>tTa	p.S131L	CYP3A4_uc003urw.2_Missense_Mutation_p.S131L|CYP3A4_uc011kiz.2_Intron	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	131					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AGACAGCAATGATCGTAATCT	0.388000														101			37		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14799050	14799050	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:14799050C>T	uc003byy.3	+	12	2565	c.2113C>T	c.(2113-2115)Cga>Tga	p.R705*	C3orf20_uc003byz.3_Nonsense_Mutation_p.R583*|C3orf20_uc003bza.3_Nonsense_Mutation_p.R583*|C3orf20_uc003bzb.1_Nonsense_Mutation_p.R206*|C3orf20_uc011avj.2_Nonsense_Mutation_p.R32*	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	705						cytoplasm|integral to membrane		p.P704A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GTTGGCGCCCCGAGACCCCAG	0.602000														40			16		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94945194	94945194	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:94945194C>T	uc002btj.3	+	15	2096	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	MCTP2_uc010boj.3_Silent_p.F406F|MCTP2_uc010bok.3_Silent_p.F677F|MCTP2_uc002btk.4_Silent_p.F265F|MCTP2_uc002btl.3_Silent_p.F265F	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	677					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAATGCAGTTCCTTAAAAGCT	0.353000														121			21		0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100777118	100777118	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100777118C>T	uc003uxt.3	+	4	991	c.843C>T	c.(841-843)ctC>ctT	p.L281L	SERPINE1_uc011kkj.2_Silent_p.L266L|SERPINE1_uc003uxu.2_Silent_p.L112L	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	281				QLI -> HVM (in Ref. 7; CAA31208).	angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GTGCCCAGCTCATCAGCCACT	0.587000														77			26		0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136401900	136401900	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:136401900G>A	uc011mdl.2	+	1	623	c.66G>A	c.(64-66)ggG>ggA	p.G22G	ADAMTSL2_uc004cei.3_Silent_p.G22G	NM_001145320	NP_055509	Q86TH1	ATL2_HUMAN	Homo sapiens ADAMTS-like 2 (ADAMTSL2), transcript variant 2, mRNA.	22					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.G22V(1)		kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TTGTAGCTGGGGACACAGTGT	0.602000														64			17		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240404	126240404	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126240404T>A	uc003ifj.4	+	0	2838	c.2838T>A	c.(2836-2838)aaT>aaA	p.N946K		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	946	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGAAAAGAATGGCACTATTA	0.488000														43			18		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22834550	22834550	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22834550C>T	uc001bft.2	+	7	1928	c.1417C>T	c.(1417-1419)Ctc>Ttc	p.L473F	ZBTB40_uc001bfu.2_Missense_Mutation_p.L473F|ZBTB40_uc009vqi.1_Missense_Mutation_p.L361F|ZBTB40_uc001bfv.1_Missense_Mutation_p.L102F	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	473					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TCATGAAAACCTCTCTGAGAT	0.393000														108			31		0	0	1	0	0
THSD1P1	374500	broad.mit.edu	37	13	52854008	52854009	+	RNA	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:52854008_52854009CC>TT	uc001vgm.1	-	5		c.517_518GG>AA								Homo sapiens thrombospondin, type I, domain containing 1 pseudogene 1 (THSD1P1), non-coding RNA.																		GACTGGCCTCCCGAAGATGGAA	0.302000														18			3		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20490544	20490544	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:20490544G>A	uc001ytf.1	+	3		c.524G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TGGATCCAAAGGCATGTTTTA	0.438000														305			14		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156916190	156916190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156916190G>A	uc003lwz.3	-	19	2324	c.2245C>T	c.(2245-2247)Ccc>Tcc	p.P749S	ADAM19_uc003lww.2_Missense_Mutation_p.P482S|ADAM19_uc003lwy.3_Missense_Mutation_p.P348S|ADAM19_uc011ddr.1_Missense_Mutation_p.P680S	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	749					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCCTGAAGGGACAACTAGAA	0.547000														23			8		0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20819666	20819666	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:20819666G>A	uc002zsl.2	-	3	748	c.591C>T	c.(589-591)taC>taT	p.Y197Y	KLHL22_uc011ahr.2_Silent_p.Y54Y	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	197					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGAGGAGGGAGTAGACCTTCT	0.557000														44			25		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120809324	120809324	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:120809324G>A	uc001ldu.3	-	16	2793	c.2647C>T	c.(2647-2649)Ctt>Ttt	p.L883F	EIF3A_uc010qsu.2_Missense_Mutation_p.L849F|EIF3A_uc009xzg.1_5'UTR	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	883					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TTTCTAGAAAGGGAACTATCG	0.403000														183			72		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78638703	78638703	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:78638703G>A	uc004akc.2	+	3	999	c.461G>A	c.(460-462)gGa>gAa	p.G154E	PCSK5_uc004ajy.2_Missense_Mutation_p.G154E|PCSK5_uc004ajz.3_Missense_Mutation_p.G154E|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	154	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AATATCGAAGGAGCCTGGAAG	0.453000														88			16		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52945952	52945952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:52945952C>T	uc003gzl.3	+	8	1500	c.1222C>T	c.(1222-1224)Cct>Tct	p.P408S	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.P376S|SPATA18_uc003gzk.1_Missense_Mutation_p.P408S	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	408					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GATTTCATTCCCTCCTGTCGT	0.438000														226			75		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151771802	151771802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:151771802C>T	uc003luv.2	-	3	1364	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	400					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GACATCTGTTCACTAGAGAGG	0.458000														107			43		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65260194	65260194	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:65260194C>T	uc001xht.3	-	12	2238	c.2187G>A	c.(2185-2187)aaG>aaA	p.K729K	SPTB_uc001xhr.3_Silent_p.K729K|SPTB_uc001xhs.3_Silent_p.K729K|SPTB_uc001xhu.3_Silent_p.K729K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	729					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.L728V(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CAGCCAGGTCCTTCAGCTGGT	0.592000														40			14		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192395	132192395	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:132192395G>A	uc003vra.4	-	1	1287	c.1058C>T	c.(1057-1059)tCg>tTg	p.S353L	PLXNA4_uc003vrc.2_Missense_Mutation_p.S353L|PLXNA4_uc003vrb.3_Missense_Mutation_p.S353L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	353	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCACAGGGCCGACTCATCCAG	0.572000														72			19		0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76787359	76787359	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:76787359C>T	uc003hix.3	-	14	2260	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_3'UTR	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	635					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTCAGTTGTTCCTTGGCCAAG	0.498000														120			56		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59203811	59203811	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:59203811G>A	uc010dps.1	+	6	1509	c.1357G>A	c.(1357-1359)Gac>Aac	p.D453N	CDH20_uc002lif.2_Missense_Mutation_p.D447N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	453	Cadherin 4.				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)				AAGACCCCTAGACCGGGAAGA	0.418000														135			56		0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187172751	187172751	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187172751C>T	uc003iyy.3	+	8	1050	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	KLKB1_uc011clc.2_Missense_Mutation_p.R125C|KLKB1_uc011cld.2_Missense_Mutation_p.R289C	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	327	Apple 4.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.R327H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AAAGATGATTCGCTGTCAGTT	0.353000														87			38		0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100205629	100205629	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:100205629G>A	uc003hur.2	-	4	608	c.494C>T	c.(493-495)tCg>tTg	p.S165L	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'UTR	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	165					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	p.S165S(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CTCTAGAGGCGAGGCTGCATC	0.478000														74			25		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69961741	69961741	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:69961741G>A	uc001jnm.4	+	18	3834	c.3649G>A	c.(3649-3651)Gag>Aag	p.E1217K	MYPN_uc001jnn.4_Missense_Mutation_p.E942K|MYPN_uc001jno.4_Missense_Mutation_p.E1217K|MYPN_uc009xpt.3_Missense_Mutation_p.E1217K|MYPN_uc010qit.2_Missense_Mutation_p.E923K|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	1217	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTGCACCAGAGAGAGGATCAG	0.567000														108			45		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211735	38211735	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:38211735G>A	uc010abx.3	-	10	2489	c.2254C>T	c.(2254-2256)Cgc>Tgc	p.R752C	TRPC4_uc010abv.3_Missense_Mutation_p.R327C|TRPC4_uc001uwt.3_Missense_Mutation_p.R747C|TRPC4_uc001uws.3_Missense_Mutation_p.R747C|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Missense_Mutation_p.R574C|TRPC4_uc010aby.3_Missense_Mutation_p.R682C	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	747	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ACTTCAAAGCGGAAACTAGAA	0.363000														64			20		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1278759	1278759	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1278759G>A	uc003jcb.1	-	5	2341	c.2283C>T	c.(2281-2283)agC>agT	p.S761S	TERT_uc003jbz.1_Missense_Mutation_p.A18V|TERT_uc003jcc.1_Silent_p.S761S|TERT_uc003jca.1_Silent_p.S749S|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Silent_p.S213S	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	761	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACCTTACGTGGCTCTTGAAGG	0.552000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					308			152		0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378024	19378024	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:19378024C>T	uc010tkp.2	+	0	431	c.431C>T	c.(430-432)cCc>cTc	p.P144L		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P144P(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTGCCGTCCCTTGCTCTAT	0.448000														121			41		0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104189916	104189916	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104189916C>T	uc004bbk.2	-	4	470	c.388G>A	c.(388-390)Ggc>Agc	p.G130S		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	130					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TCTGAGAGGCCATCAAGCCCT	0.507000														51			30		0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88813139	88813139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:88813139G>A	uc010iko.1	+	0	145	c.145G>A	c.(145-147)Gat>Aat	p.D49N						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		TAATGCTTCTGATGCCTTGGA	0.453000														82			37		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86524856	86524856	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:86524856C>T	uc001dlj.3	-	9	1828	c.1753_splice	c.e9-1	p.G585_splice	COL24A1_uc010osf.2_Splice_Site|COL24A1_uc010osd.2_Splice_Site|COL24A1_uc001dlk.3_Splice_Site|COL24A1_uc010ose.2_Splice_Site|COL24A1_uc009wcq.3_Splice_Site_p.G585_splice	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	585	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCTGGAATTCCCTGAAATAA	0.333000														50			13		0	0	1	0	0
SHD	56961	broad.mit.edu	37	19	4283066	4283066	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4283066G>A	uc002lzw.2	+	2	1882	c.419G>A	c.(418-420)gGg>gAg	p.G140E		NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA.	140										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGCAGAGGGGTGCAGCTC	0.612000														57			6		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57420500	57420500	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57420500C>T	uc001cyp.3	-	4	459	c.392_splice	c.e4-1	p.G131_splice	C8B_uc010oon.2_Splice_Site_p.G69_splice|C8B_uc010ooo.2_Splice_Site_p.G79_splice	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	131	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TACACACCTTCCTAGAATGGA	0.433000														86			17		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86327250	86327250	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:86327250G>A	uc002sqs.3	-	1	502	c.123C>T	c.(121-123)agC>agT	p.S41S		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	41					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGTTCCCCAGGCTGTCCAGGT	0.483000														63			25		0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46145989	46145989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:46145989C>T	uc002ldd.3	+	2	412	c.53C>T	c.(52-54)tCc>tTc	p.S18F	CTIF_uc002ldc.3_Missense_Mutation_p.S18F	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	18	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						AGCAGCCGCTCCCAGGAGATC	0.642000														6			4		0	0	1	0	0
KLF11	8462	broad.mit.edu	37	2	10186390	10186390	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:10186390T>A	uc002raf.1	+	1	318	c.156T>A	c.(154-156)gtT>gtA	p.V52V	KLF11_uc021vdq.1_Silent_p.V35V|KLF11_uc010yjc.2_Silent_p.V35V	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	52					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		AGGCTCTTGTTTGTATGAGCT	0.537000														51			31		0	0	1	0	0
PTH	5741	broad.mit.edu	37	11	13514323	13514323	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:13514323G>A	uc001mlb.3	-	1	195	c.80C>T	c.(79-81)tCt>tTt	p.S27F		NM_000315	NP_000306	P01270	PTHY_HUMAN	Homo sapiens parathyroid hormone (PTH), mRNA.	27					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		TTACTTAACAGATTTCCCATC	0.373000														31			9		0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58302915	58302916	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:58302915_58302916CC>TT	uc002aex.3	-	3	697_698	c.424_425GG>AA	c.(424-426)ggc>AAc	p.G142N	ALDH1A2_uc010ugv.2_Missense_Mutation_p.G121N|ALDH1A2_uc002aey.3_Missense_Mutation_p.G142N|ALDH1A2_uc010ugw.2_Missense_Mutation_p.G113N|ALDH1A2_uc002aew.3_Missense_Mutation_p.G46N	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	142					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTTGATGACGCCCTGCAAATCC	0.431000														51			22		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81864669	81864669	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:81864669C>T	uc010tvu.2	-	0	256	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	STON2_uc001xvk.1_Missense_Mutation_p.E20K|STON2_uc010atc.1_Missense_Mutation_p.E20K	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	20					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGTGGCTCTTCATTGAAGGAG	0.483000														48			18		0	0	1	0	0
GBP1P1	400759	broad.mit.edu	37	1	89886716	89886716	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:89886716G>A	uc009wcy.1	+	3		c.494G>A								Homo sapiens guanylate binding protein 1, interferon-inducible pseudogene 1 (GBP1P1), non-coding RNA.																		AATAGCATAGGAACCATTAAC	0.522000														65			21		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53663157	53663157	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53663157C>T	uc001sck.2	+	2	522	c.431C>T	c.(430-432)gCt>gTt	p.A144V	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	144					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GAGGCCGTGGCTCGGGGCAGC	0.622000														48			35		0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456633	5456634	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:5456633_5456634GG>AA	uc002mca.4	+	0	1208_1209	c.1131_1132GG>AA	c.(1129-1134)ccgggc>ccAAgc	p.G378S		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	378						integral to membrane	zinc ion binding	p.P377Q(2)		NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CCTCCCTACCGGGCCACCGGCC	0.683000														97			30		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78440509	78440509	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:78440509G>A	uc001ozl.4	-	21	3781	c.3318C>T	c.(3316-3318)ttC>ttT	p.F1106F		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1106					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GGGCTGCAGCGAACCACTTCC	0.557000														9			6		0	0	1	0	0
CNN2	1265	broad.mit.edu	37	19	1037846	1037846	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:1037846C>T	uc002lqu.3	+	6	1240	c.877C>T	c.(877-879)Ccg>Tcg	p.P293S	ABCA7_uc002lqw.4_5'Flank|CNN2_uc002lqv.3_Missense_Mutation_p.P254S|CNN2_uc010xgb.2_Missense_Mutation_p.P282S|CNN2_uc010xgc.2_Missense_Mutation_p.P314S|ABCA7_uc010dsa.3_5'Flank	NM_004368	NP_004359	Q99439	CNN2_HUMAN	Homo sapiens calponin 2 (CNN2), transcript variant 1, mRNA.	293					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CTGCCCGGACCCGGGGGAGGT	0.657000														97			33		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101710325	101710325	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:101710325G>A	uc001vox.1	-	42	5178	c.4989C>T	c.(4987-4989)ccC>ccT	p.P1663P		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1663						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATTTCCTCTGGGGTTTCCCTG	0.562000														62			18		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514787	233514787	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233514787C>T	uc001hvt.4	+	8	2296	c.2035C>T	c.(2035-2037)Cag>Tag	p.Q679*	KIAA1804_uc001hvu.4_Nonsense_Mutation_p.Q125*	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	679					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GAAAGATGCTCAGAGAGAGAA	0.463000														93			43		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228479753	228479753	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228479753G>A	uc009xez.1	+	38	10538	c.10494G>A	c.(10492-10494)caG>caA	p.Q3498Q	OBSCN_uc001hsn.3_Silent_p.Q3498Q|OBSCN_uc001hsq.1_Silent_p.Q754Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3498	Ig-like 35.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCTGAGGCAGGAGGGGACCA	0.627000														65			29		0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79193782	79193782	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:79193782G>A	uc002jzp.1	-	1	275	c.75C>T	c.(73-75)ctC>ctT	p.L25L	AZI1_uc002jzn.1_Silent_p.L25L|AZI1_uc002jzo.1_Silent_p.L25L|AZI1_uc010wum.1_Silent_p.L25L	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	25					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CAGGCGGAGGGAGACCTGTCA	0.677000														65			23		0	0	1	0	0
ADAD2	161931	broad.mit.edu	37	16	84228059	84228059	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84228059C>T	uc002fhq.2	+	2	760	c.646C>T	c.(646-648)Ccc>Tcc	p.P216S	ADAD2_uc002fhr.2_Missense_Mutation_p.P144S|AK123582_uc002fhs.1_Missense_Mutation_p.G102R	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	144					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	p.P216S(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TCCCTGCTTCCCCTTCTCGGT	0.642000														11			7		0	0	1	0	0
SPATA19	219938	broad.mit.edu	37	11	133714141	133714141	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:133714141C>T	uc001qgv.1	-	4	410	c.359_splice	c.e4+1	p.S120_splice		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA.	120					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GACACCTTACCTCCATCTTAT	0.527000														87			29		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14724560	14724560	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:14724560G>A	uc003byy.3	+	2	792	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	C3orf20_uc003byz.3_5'UTR|C3orf20_uc003bza.3_5'UTR|C3orf20_uc003byx.2_Missense_Mutation_p.A114T	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	114						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CACTGGGGCAGCCAAGCGCTC	0.627000														19			3		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936219	30936219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:30936219C>T	uc002nsu.1	+	1	1888	c.1750C>T	c.(1750-1752)Cac>Tac	p.H584Y	ZNF536_uc010edd.1_Missense_Mutation_p.H584Y	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGATTTGGTTCACAGCACTAA	0.517000														77			23		0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18170851	18170851	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18170851G>A	uc002nhx.1	-	16	2007	c.1956C>T	c.(1954-1956)tcC>tcT	p.S652S	IL12RB1_uc002nhw.1_Silent_p.S612S|IL12RB1_uc010xqb.1_Silent_p.S612S	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	612					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCTCCTGCAGGGATGCCTCTT	0.607000														17			3		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40739002	40739002	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:40739002C>T	uc002xkg.3	-	22	3409	c.3225G>A	c.(3223-3225)ccG>ccA	p.P1075P	PTPRT_uc010ggj.3_Silent_p.P1094P|PTPRT_uc010ggi.3_Silent_p.P278P	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1075	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.H1075N(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCCAGCTTCCGGGGGGTTGA	0.627000														50			13		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681346	100681346	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100681346G>A	uc003uxp.1	+	2	6702	c.6649G>A	c.(6649-6651)Gaa>Aaa	p.E2217K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2217	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTAGTGAAGGAAGCAC	0.507000														563			235		0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184233578	184233578	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:184233578C>T	uc010irx.3	+	21	3651	c.3469C>T	c.(3469-3471)Cgg>Tgg	p.R1157W	WWC2_uc003ivk.4_Missense_Mutation_p.R952W|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.R839W|WWC2_uc003ivn.4_Missense_Mutation_p.R672W|WWC2_uc010irz.3_Missense_Mutation_p.R498W|WWC2_uc003ivo.4_Missense_Mutation_p.R285W	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	1157										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GTGTCGGCTCCGGGAGCAGAG	0.542000														100			24		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46772028	46772028	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:46772028C>T	uc002eei.4	-	2	712	c.596G>A	c.(595-597)gGg>gAg	p.G199E	MYLK3_uc010vge.2_Intron|MYLK3_uc002eej.1_5'UTR	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	199				G -> R (in Ref. 1; CAC42766).	cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTCCGCTGTCCCCTCCAGCAC	0.617000														9			3		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121420752	121420752	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121420752C>T	uc001pxx.3	+	14	2264	c.2135C>T	c.(2134-2136)cCt>cTt	p.P712L		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	712					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCATACTCCCCTCCTGTGCCT	0.488000														101			30		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40362803	40362803	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40362803G>A	uc002omp.4	-	31	15275	c.15267C>T	c.(15265-15267)ttC>ttT	p.F5089F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5089						extracellular region	protein binding	p.F5089F(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCGGCACAGGAAGGCTTTGT	0.657000														132			52		0	0	1	0	0
PTCD2	79810	broad.mit.edu	37	5	71616244	71616244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:71616244C>T	uc003kcb.3	+	0	45	c.35C>T	c.(34-36)cCc>cTc	p.P12L	MRPS27_uc003kca.4_5'Flank|MRPS27_uc003kbz.4_5'Flank|MRPS27_uc011cse.2_5'Flank|MRPS27_uc010iza.3_5'Flank|PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_5'UTR|PTCD2_uc011csh.2_Missense_Mutation_p.P12L|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	12										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GCATTTCGGCCCTCGAATCGA	0.622000														51			12		0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3449086	3449086	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3449086C>T	uc010xhi.2	+	6	1103	c.1033C>T	c.(1033-1035)Cgc>Tgc	p.R345C	NFIC_uc002lxo.3_Missense_Mutation_p.R336C|NFIC_uc010xhh.2_Missense_Mutation_p.R336C|NFIC_uc010xhj.2_Missense_Mutation_p.R345C|NFIC_uc002lxp.3_Missense_Mutation_p.R345C	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	345					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GGACTCTCCCCGCCTCTCCAG	0.672000														26			21		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70942322	70942322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:70942322C>T	uc003pfg.4	-	35	2626	c.2467G>A	c.(2467-2469)Ggg>Agg	p.G823R	COL9A1_uc003pfe.4_Missense_Mutation_p.G372R|COL9A1_uc003pff.4_Missense_Mutation_p.G580R	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	823	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGGGGGCCCCTTAATGCCC	0.552000														141			12		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4703806	4703806	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:4703806C>T	uc003bqc.3	+	13	1597	c.1247C>T	c.(1246-1248)gCc>gTc	p.A416V	ITPR1_uc021wsi.1_Missense_Mutation_p.A431V|ITPR1_uc021wsj.1_Missense_Mutation_p.A416V|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	431	MIR 5.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GAAGCATTTGCCATAGTTCCG	0.493000														70			30		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143388	55143388	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55143388G>A	uc002qgj.3	+	5	701	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.A121T|LILRB1_uc002qgk.3_Missense_Mutation_p.A121T|LILRB1_uc002qgm.3_Missense_Mutation_p.A121T|LILRB1_uc010erq.3_Missense_Mutation_p.A121T|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.	121	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			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)		TCTCCTAGGAGCCTACATCAA	0.597000										HNSCC(37;0.09)				110			9		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186015231	186015231	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:186015231C>T	uc003fqa.3	-	4	889	c.352G>A	c.(352-354)Gag>Aag	p.E118K	DGKG_uc003fqb.3_Missense_Mutation_p.E118K|DGKG_uc003fqc.3_Missense_Mutation_p.E118K|DGKG_uc011brx.2_Missense_Mutation_p.E118K	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	118					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)	GCACAGGCCTCGTCTGCTTTG	0.448000														106			21		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147027949	147027949	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:147027949C>T	uc010jgo.1	-	3	1074	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	JAKMIP2_uc003loq.1_Missense_Mutation_p.R309Q|JAKMIP2_uc011dbx.1_Missense_Mutation_p.R267Q|JAKMIP2_uc003lor.1_Missense_Mutation_p.R309Q|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	309						Golgi apparatus		p.R309*(1)|p.E308A(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCATTTCGTTCATCTCC	0.303000														98			36		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128483850	128483850	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128483850G>A	uc003vnz.4	+	19	3021	c.2812_splice	c.e19-1	p.G938_splice	FLNC_uc003voa.4_Splice_Site_p.G938_splice	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	938					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TACCCAACAGGGCAACATGGC	0.527000														100			76		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137655578	137655578	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:137655578G>A	uc004cfe.3	+	19	2411	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	677	Triple-helical region.			E -> K (in Ref. 1; BAA14323).|E -> Q (in Ref. 4; AA sequence).	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCTGCCTGGGGAGCCCGTAAG	0.592000														82			10		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79414146	79414146	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:79414146C>T	uc002kaf.2	+	9	3062	c.3062C>T	c.(3061-3063)cCt>cTt	p.P1021L	BAHCC1_uc002kae.2_Missense_Mutation_p.P313L	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	1083	Pro-rich.						DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CTCGAGGACCCTGAAACTATG	0.662000														61			24		0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	29976195	29976195	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:29976195G>A	uc011kaa.2	-	5	991	c.942C>T	c.(940-942)ttC>ttT	p.F314F	SCRN1_uc011jzy.2_Silent_p.F226F|SCRN1_uc003tak.3_Silent_p.F294F|SCRN1_uc011jzz.2_Silent_p.F294F|SCRN1_uc011jzw.2_Silent_p.F161F|SCRN1_uc010kvp.3_Silent_p.F294F|SCRN1_uc011jzx.2_Silent_p.F117F	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	294					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GGGTTCCAGTGAAGTAGTGAA	0.522000														149			37		0	0	1	0	0
PRELP	5549	broad.mit.edu	37	1	203452401	203452401	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203452401C>T	uc001gzs.3	+	1	289	c.89C>T	c.(88-90)aCt>aTt	p.T30I	PRELP_uc001gzt.3_Missense_Mutation_p.T30I	NM_002725	NP_958505	P51888	PRELP_HUMAN	Homo sapiens proline/arginine-rich end leucine-rich repeat protein (PRELP), transcript variant 1, mRNA.	30					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			AGACCCGGGACTGGGCCCGGG	0.647000														92			27		0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104159900	104159900	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104159900C>T	uc001kvb.3	+	14	1798	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	NFKB2_uc001kva.3_Silent_p.I511I|NFKB2_uc001kvd.3_Silent_p.I511I|NFKB2_uc009xxc.3_Silent_p.I511I	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	511					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TCTATGTCATCCACCACGCCC	0.632000			T	IGH@	B-NHL									67			7		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53062516	53062516	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:53062516C>T	uc003xqz.2	-	10	1984	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K	ST18_uc011ldq.1_Missense_Mutation_p.E257K|ST18_uc011ldr.1_Missense_Mutation_p.E575K|ST18_uc011lds.1_Missense_Mutation_p.E515K|ST18_uc003xra.2_Missense_Mutation_p.E610K|ST18_uc003xrb.2_Missense_Mutation_p.E610K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	610						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GTGCCATTTTCATCCACTTCT	0.418000														86			36		0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44079588	44079588	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:44079588G>A	uc002rtq.3	+	4	747	c.657G>A	c.(655-657)agG>agA	p.R219R	ABCG8_uc010yoa.2_Silent_p.R219R	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	219	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTGAGCGCAGGAGAGTCAGCA	0.677000														34			22		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085498	9085498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9085498G>A	uc002mkp.3	-	0	6521	c.6317C>T	c.(6316-6318)cCa>cTa	p.P2106L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2106	Ser-rich.|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						CTCTGTTTCTGGATTTCTTTG	0.498000														152			50		0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113346511	113346511	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113346511G>A	uc001tuc.3	+	1	457	c.351G>A	c.(349-351)gtG>gtA	p.V117V	OAS1_uc010syn.2_Silent_p.V116V|OAS1_uc010syo.2_Silent_p.V116V|OAS1_uc001tub.3_Silent_p.V117V|OAS1_uc001tud.3_Silent_p.V117V|OAS1_uc009zwf.3_Silent_p.V116V	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	117	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CATTTTCCGTGAAGTTTGAGG	0.562000														53			14		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140938301	140938301	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140938301C>T	uc004cog.3	+	20	3507	c.3362C>T	c.(3361-3363)cCc>cTc	p.P1121L	CACNA1B_uc022bqn.1_Missense_Mutation_p.P1121L|CACNA1B_uc011mfd.2_Missense_Mutation_p.P722L|CACNA1B_uc004coi.3_Missense_Mutation_p.P331L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1121					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGGAGCGGCCCCCGGCCTATC	0.602000														158			74		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341852	121341852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121341852C>T	uc003eeg.2	+	2	1786	c.1576C>T	c.(1576-1578)Cgt>Tgt	p.R526C		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	526					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AAACCATTTCCGTCCCCCAGG	0.502000														47			13		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74017761	74017761	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74017761G>A	uc010wss.1	-	7	1137	c.909C>T	c.(907-909)ccC>ccT	p.P303P	EVPL_uc002jqi.2_Silent_p.P303P|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	303	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						gcaccTGGATGGGCCCCACCG	0.721000														14			4		0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53220037	53220037	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:53220037C>T	uc003dgl.3	+	11	1433	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	PRKCD_uc003dgm.3_Silent_p.F360F	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	360	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		AAGGCAGCTTCGGGAAGGTGA	0.607000														39			12		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104062929	104062929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:104062929G>A	uc003hxb.1	-	34	5531	c.5441C>T	c.(5440-5442)tCa>tTa	p.S1814L	CENPE_uc003hxc.1_Missense_Mutation_p.S1789L|CENPE_uc003hxd.1_5'Flank	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1814					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTAGCATTTGAATTTTCTAA	0.313000														44			4		0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40330368	40330368	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:40330368G>A	uc002hzb.2	-	2	771	c.438C>T	c.(436-438)ggC>ggT	p.G146G		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	146					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTCCCCGCGGCCTCCTTGGG	0.567000														22			21		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887521	9887521	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:9887521G>A	uc002koi.4	+	1	1494	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	TXNDC2_uc002koh.4_Missense_Mutation_p.E282K|TXNDC2_uc021ugx.1_Missense_Mutation_p.E282K	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	349	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CAAGTCCCCAGAAGAAACCAT	0.562000														137			68		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72596824	72596824	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:72596824G>A	uc003pga.3	+	0	175	c.98G>A	c.(97-99)aGg>aAg	p.R33K		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	33	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAAGAGGAGAGGAACATTATC	0.622000														15			15		0	0	1	0	0
INO80E	283899	broad.mit.edu	37	16	30012298	30012298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30012298C>T	uc002dvg.1	+	4	434	c.333C>T	c.(331-333)tcC>tcT	p.S111S	BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_Non-coding_Transcript	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN	Homo sapiens INO80 complex subunit E (INO80E), mRNA.	111	Pro-rich.				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						CCAGCCTCTCCCTGCCTCCTT	0.657000														62			17		0	0	1	0	0
DNPEP	23549	broad.mit.edu	37	2	220239650	220239650	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220239650G>A	uc002vle.2	-	13	1480	c.1334C>T	c.(1333-1335)cCc>cTc	p.P445L	DNPEP_uc002vli.2_Missense_Mutation_p.P392L|DNPEP_uc010zlg.2_Missense_Mutation_p.P453L	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	435					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	GGCCAGTTGGGGGCTGCCTAA	0.607000														54			20		0	0	1	0	0
TRIP13	9319	broad.mit.edu	37	5	893150	893150	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:893150C>T	uc003jbr.3	+	0	182	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S	BRD9_uc003jbl.3_5'Flank|BRD9_uc003jbm.3_5'Flank|BRD9_uc003jbn.3_5'Flank|BRD9_uc011cmb.2_5'Flank|BRD9_uc003jbq.3_5'Flank|BRD9_uc003jbo.3_5'Flank|BRD9_uc011cmc.1_5'Flank|TRIP13_uc010ite.2_Missense_Mutation_p.P13S	NM_004237	NP_004228	Q15645	PCH2_HUMAN	Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA.	13					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GCAGGCGCTTCCCTGTGTGGC	0.726000														8			6		0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50701195	50701195	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50701195G>A	uc001jhs.4	-	7	1943	c.1789C>T	c.(1789-1791)Cta>Tta	p.L597L	ERCC6_uc010qgr.2_Intron|ERCC6_uc001jhr.4_5'UTR	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	597	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTTTCATGTAGAATTGCCACT	0.413000								Direct reversal of damage;Nucleotide excision repair (NER)						42			12		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73964162	73964163	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73964162_73964163GG>AA	uc004eby.3	-	2	846_847	c.229_230CC>TT	c.(229-231)ccg>TTg	p.P77L		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	77					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	p.P77L(2)		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						AGGAGAGGGCGGGCTCTGCATA	0.540000														21			31		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79387418	79387418	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:79387418G>A	uc001diq.4	-	8	1293	c.1137C>T	c.(1135-1137)acC>acT	p.T379T		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	379	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGCCATTCATGGTATCAGGTG	0.398000														80			30		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15601415	15601415	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:15601415G>A	uc002rcc.1	-	20	2275	c.2249C>T	c.(2248-2250)tCc>tTc	p.S750F	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	750										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AAGCAGGTCGGAACCATGGTA	0.418000														90			20		0	0	1	0	0
PRTN3	5657	broad.mit.edu	37	19	841055	841055	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:841055C>T	uc002lqa.1	+	0	71	c.47C>T	c.(46-48)gCc>gTc	p.A16V	PRTN3_uc021umb.1_5'Flank	NM_002777	NP_002768	P24158	PRTN3_HUMAN	Homo sapiens proteinase 3 (PRTN3), mRNA.	16					collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GTGCTGCTGGCCTTGCTGCTG	0.652000														18			7		0	0	1	0	0
SPANXC	64663	broad.mit.edu	37	X	140335749	140335749	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140335749C>T	uc004fbk.3	-	1	251	c.195G>A	c.(193-195)gaG>gaA	p.E65E	SPANXC_uc004fbl.3_Non-coding_Transcript	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	Homo sapiens SPANX family, member C (SPANXC), mRNA.	65						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TCAGCAGTTCCTCTGGAGATG	0.468000														176			10		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54919034	54919034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54919034G>A	uc021smr.1	+	30	6362	c.6362G>A	c.(6361-6363)gGa>gAa	p.G2121E	UNC13C_uc021sms.1_Missense_Mutation_p.G2123E|UNC13C_uc002acm.3_Missense_Mutation_p.G44E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2123	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G2123E(2)		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)		AGCATTCTCGGAAAGGAAAAT	0.373000														35			8		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45297465	45297465	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45297465C>T	uc002ozs.3	+	8	1352	c.1289C>T	c.(1288-1290)cCc>cTc	p.P430L	CBLC_uc010ejt.3_Missense_Mutation_p.P384L	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	430					cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CCCCAGGTGCCCCTTTCGGCT	0.612000			M		AML									204			40		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976513	38976513	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38976513G>A	uc002oit.3	+	33	5348	c.5218G>A	c.(5218-5220)Gag>Aag	p.E1740K	RYR1_uc002oiu.3_Missense_Mutation_p.E1740K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1740	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTCACGCCTGAGACCCGCGC	0.632000														93			28		0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201438338	201438338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:201438338C>T	uc002uvw.2	+	6	3382	c.3269C>T	c.(3268-3270)cCa>cTa	p.P1090L	SGOL2_uc010zhd.1_Missense_Mutation_p.P1090L|SGOL2_uc010zhe.1_Missense_Mutation_p.P1090L	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	1090					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GATCCTTCTCCAGAGAGCCAT	0.368000														109			55		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9624925	9624925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9624925C>T	uc002wnl.2	-	3	597	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	PAK7_uc002wnk.2_Missense_Mutation_p.E18K|PAK7_uc002wnj.2_Missense_Mutation_p.E18K|PAK7_uc010gby.1_Missense_Mutation_p.E18K	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	18	CRIB.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACCCTGTGTTCAAAGTTGGAC	0.448000														87			31		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106960963	106960963	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106960963G>A	uc001kyi.1	+	15	2440	c.2213G>A	c.(2212-2214)gGa>gAa	p.G738E	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	738						integral to membrane	neuropeptide receptor activity	p.S737S(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GACCACTCAGGATCAGTGGTC	0.493000														103			22		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141583073	141583073	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:141583073G>A	uc010ioj.3	-	9	2049	c.1777C>T	c.(1777-1779)Cga>Tga	p.R593*		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	593	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTGGGATTTCGAAAAGCATAA	0.398000														28			13		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44673674	44673674	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44673674C>T	uc010zxl.1	+	11	1609	c.1533C>T	c.(1531-1533)gtC>gtT	p.V511V	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.V488V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	511					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGGTAATTGTCATCGGATCCT	0.612000														176			48		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157485415	157485415	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157485415G>A	uc009wsm.3	-	16	3132	c.2974C>T	c.(2974-2976)Ccc>Tcc	p.P992S	FCRL5_uc001fqu.3_3'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	0						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TCCCCCAAGGGGAACTTTGGG	0.532000														141			49		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158505106	158505106	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:158505106C>T	uc003qqx.2	+	21	3214	c.3108C>T	c.(3106-3108)ctC>ctT	p.L1036L	SYNJ2_uc003qqw.2_Silent_p.L1036L|SYNJ2_uc003qqy.2_Silent_p.L799L|SYNJ2_uc003qqz.2_Silent_p.L653L|SYNJ2_uc003qra.2_Silent_p.L379L	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1036							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACAGTGAACTCGGGGGAGACG	0.517000														157			106		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234590739	234590739	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234590739G>A	uc002vut.3	+	0	156	c.156G>A	c.(154-156)ggG>ggA	p.G52G	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Silent_p.G52G	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	54					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TCCTCAGGGGGCATGAGGTGG	0.547000														174			10		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3329159	3329159	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3329159G>A	uc001akf.3	+	8	2480	c.2398G>A	c.(2398-2400)Gag>Aag	p.E800K	PRDM16_uc001ake.3_Missense_Mutation_p.E800K|PRDM16_uc009vlh.3_Missense_Mutation_p.E501K|PRDM16_uc001akc.3_Missense_Mutation_p.E800K	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	800	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ATCCGGCGAGGAGCAGCCGCT	0.692000			T	EVI1	"""MDS, AML"""									21			7		0	0	1	0	0
S100P	6286	broad.mit.edu	37	4	6695749	6695749	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:6695749G>A	uc003gjl.3	+	0	184	c.90G>A	c.(88-90)aaG>aaA	p.K30K		NM_005980	NP_005971	P25815	S100P_HUMAN	Homo sapiens S100 calcium binding protein P (S100P), mRNA.	30	EF-hand 1.				endothelial cell migration	cytoplasm|nucleus	calcium ion binding|calcium-dependent protein binding|magnesium ion binding			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicate(DB01003)	CCCTGACCAAGGGGGAGCTCA	0.597000														40			20		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346601	89346601	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89346601G>A	uc002fmx.1	-	8	6810	c.6349C>T	c.(6349-6351)Ccg>Tcg	p.P2117S	ANKRD11_uc002fmy.1_Missense_Mutation_p.P2117S|ANKRD11_uc002fnc.1_Missense_Mutation_p.P2117S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P2074S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2117	Pro-rich.					nucleus		p.P2117P(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CAGGGCACCGGCTCCACCTGG	0.697000														16			3		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128463994	128463994	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:128463994C>T	uc002tpg.2	-	21	4113	c.3914G>A	c.(3913-3915)cGa>cAa	p.R1305Q		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1305					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CCGGCCCCCTCGAGAAGGGGT	0.617000														204			32		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46787381	46787381	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46787381G>A	uc011dwh.1	+	5	588	c.580G>A	c.(580-582)Gag>Aag	p.E194K	MEP1A_uc010jzh.1_Missense_Mutation_p.E166K|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_Missense_Mutation_p.E66K	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	166	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ATTTTACCACGAGCAGTCAAG	0.478000														150			72		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103410325	103410325	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:103410325G>A	uc001ymi.1	-	29	4543	c.4311C>T	c.(4309-4311)taC>taT	p.Y1437Y	CDC42BPB_uc001ymj.1_Silent_p.Y539Y	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1437	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGCAAAGCAGGTACTCCTCGC	0.582000														50			27		0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394451	17394451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17394451C>T	uc010xpn.1	+	4	1154	c.1040C>T	c.(1039-1041)tCc>tTc	p.S347F	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Missense_Mutation_p.S293F|ANKLE1_uc010eao.1_Missense_Mutation_p.S315F|ANKLE1_uc002nfy.2_Missense_Mutation_p.S282F|ANKLE1_uc002nfz.2_5'UTR			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	293						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TCCTCCCCTTCCTCCATGCCT	0.622000														79			23		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152085471	152085471	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152085471G>A	uc009wne.1	-	2	494	c.222C>T	c.(220-222)ttC>ttT	p.F74F	TCHH_uc001ezp.2_Silent_p.F74F	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	74	EF-hand 2.|S-100-like.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAAATAGGAGGAATTCGTTGA	0.478000														48			10		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41181646	41181646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41181646C>T	uc003jmk.2	-	6	952	c.742G>A	c.(742-744)Gat>Aat	p.D248N	C6_uc003jml.1_Missense_Mutation_p.D248N	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	248	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.D248Y(2)		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)				TTCAAGTCATCTTCTGCAGTT	0.348000														53			14		0	0	1	0	0
FCGRT	2217	broad.mit.edu	37	19	50027802	50027802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50027802C>T	uc002pog.2	+	3	862	c.640C>T	c.(640-642)Cct>Tct	p.P214S	FCGRT_uc002poe.2_Missense_Mutation_p.P214S|FCGRT_uc002pof.2_Missense_Mutation_p.P119S|FCGRT_uc010yax.2_3'UTR|FCGRT_uc002poh.2_Missense_Mutation_p.P74S|FCGRT_uc002poi.2_5'Flank	NM_004107	NP_004098	P55899	FCGRN_HUMAN	Homo sapiens Fc fragment of IgG, receptor, transporter, alpha (FCGRT), transcript variant 2, mRNA.	214	Alpha-3.				antigen processing and presentation|female pregnancy|immune response	MHC class I protein complex|integral to membrane	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		ACCCAGCAGCCCTGGCTTTTC	0.667000														86			27		0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27077035	27077035	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:27077035C>T	uc001mre.1	+	2	426	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	BBOX1_uc009yih.1_Missense_Mutation_p.L20F|BBOX1_uc001mrg.1_Missense_Mutation_p.L20F|BBOX1_uc021qfd.1_Missense_Mutation_p.L20F|BBOX1_uc021qfc.1_Non-coding_Transcript	NM_003986	NP_003977	O75936	BODG_HUMAN	Homo sapiens butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (BBOX1), mRNA.	20					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GATGCAGATCCTCTGGTATGA	0.498000														60			26		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447684	226447684	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:226447684C>T	uc002voe.2	+	3	1726	c.1551C>T	c.(1549-1551)ctC>ctT	p.L517L	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.L287L	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	517																	TGACCAGCCTCTTCTCCTCCG	0.697000														19			9		0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63631777	63631777	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:63631777G>A	uc002sch.3	-	9	1303	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	WDPCP_uc002sce.3_Non-coding_Transcript|WDPCP_uc002scf.3_Missense_Mutation_p.R122C|WDPCP_uc010ypu.2_Non-coding_Transcript|WDPCP_uc002scg.3_Missense_Mutation_p.R89C|WDPCP_uc002sci.2_Missense_Mutation_p.R257C|WDPCP_uc010fcr.1_Missense_Mutation_p.R171C	NM_015910	NP_056994	O95876	FRITZ_HUMAN	Homo sapiens WD repeat containing planar cell polarity effector (WDPCP), mRNA.	281					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CATTCTGTGCGGACAGAACTC	0.433000														83			43		0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43802323	43802323	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43802323C>T	uc002zbb.2	-	8	1004	c.803G>A	c.(802-804)tGg>tAg	p.W268*	TMPRSS3_uc002zay.2_Nonsense_Mutation_p.W26*|TMPRSS3_uc002zaz.2_Nonsense_Mutation_p.W141*|TMPRSS3_uc002zba.2_Nonsense_Mutation_p.W141*|TMPRSS3_uc002zbc.2_Nonsense_Mutation_p.W268*|TMPRSS3_uc002zbd.3_Nonsense_Mutation_p.W268*	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	268	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CTGGATGGTCCATGACTTGGG	0.498000														39			14		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101748762	101748762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:101748762C>T	uc003knn.3	-	8	1730	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	SLCO6A1_uc003kno.3_Missense_Mutation_p.D267N|SLCO6A1_uc003knp.3_Missense_Mutation_p.D520N|SLCO6A1_uc003knq.3_Missense_Mutation_p.D458N	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	520	Kazal-like.					integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TCAATATCATCTCTTCCACAT	0.313000														36			17		0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240674	39240674	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39240674G>A	uc010wfn.2	+	0	216	c.216G>A	c.(214-216)acG>acA	p.T72T		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GCTGTGAGACGACctgctgcc	0.657000														31			13		0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124739717	124739717	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124739717G>A	uc011bke.2	-	3	1239	c.1171C>T	c.(1171-1173)Cca>Tca	p.P391S	HEG1_uc003ehs.4_Missense_Mutation_p.P391S	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	360						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TCATCCCCTGGATTCCCAGTT	0.448000														52			19		0	0	1	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43591154	43591154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:43591154C>T	uc002lbp.4	-	4	443	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	PSTPIP2_uc002lbq.4_Missense_Mutation_p.R116Q	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	116						membrane		p.Q115*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						AACCTTTTTTCGTTGTAGTTT	0.428000														198			16		0	0	1	0	0
LHX2	9355	broad.mit.edu	37	9	126777540	126777540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:126777540C>T	uc010mwi.1	+	2	1226	c.487C>T	c.(487-489)Cac>Tac	p.H163Y	LHX2_uc004boe.1_Missense_Mutation_p.H155Y	NM_004789	NP_004780	P50458	LHX2_HUMAN	Homo sapiens LIM homeobox 2 (LHX2), mRNA.	155	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						CACGGGCGACCACTTCGGCAT	0.607000														97			57		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1271266	1271266	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1271266G>A	uc003jcb.1	-	7	2494	c.2436C>T	c.(2434-2436)ttC>ttT	p.F812F	TERT_uc003jbz.1_Intron|TERT_uc003jcc.1_Silent_p.F812F|TERT_uc003jca.1_Silent_p.F800F|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	812	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGTGGCACATGAAGCGTAGGA	0.652000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					52			6		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50757272	50757272	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:50757272G>A	uc002egm.1	+	8	2964	c.2859G>A	c.(2857-2859)aaG>aaA	p.K953K	NOD2_uc010cbl.1_Silent_p.K703K|NOD2_uc010cbm.1_Silent_p.K703K|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_Non-coding_Transcript|NOD2_uc010cbq.1_Silent_p.K91K|NOD2_uc010cbr.1_Non-coding_Transcript|NOD2_uc010vgq.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	953					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGCTGGCAAAGAACGTCATGC	0.527000														33			8		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161162403	161162403	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:161162403C>T	uc003qtm.4	+	16	2191	c.2079C>T	c.(2077-2079)gtC>gtT	p.V693V		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	693	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATTATGTGGTCGCTGACCGGA	0.473000														39			24		0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203017798	203017798	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203017798C>T	uc009xaj.3	+	14	1765	c.1765C>T	c.(1765-1767)Ctg>Ttg	p.L589L	PPFIA4_uc010pqf.2_Silent_p.L145L|PPFIA4_uc001gyz.3_5'Flank|PPFIA4_uc001gza.3_5'Flank			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	132	SAM 3.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CAACGAGCGTCTGCAGCTCCA	0.652000														22			4		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537083	5537083	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5537083C>T	uc001maz.4	-	0	874	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	197								p.E197*(2)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TCTAGATGTTCTGAAATGAAC	0.493000														134			52		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655984	40655984	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:40655984G>A	uc002rrx.3	-	0	1461	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	SLC8A1_uc002rry.3_Silent_p.I479I|SLC8A1_uc002rsb.2_Silent_p.I479I|SLC8A1_uc002rrz.3_Silent_p.I479I|SLC8A1_uc002rsa.3_Silent_p.I479I|SLC8A1_uc002rsd.4_Silent_p.I479I|SLC8A1_uc010fan.1_Silent_p.I479I|SLC8A1_uc002rsc.1_Silent_p.I479I	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	479	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATCATCTATGATACCCACTC	0.423000														59			32		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63955210	63955210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:63955210G>A	uc002amp.3	-	43	9022	c.8874C>T	c.(8872-8874)atC>atT	p.I2958I		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2958					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTACCTCTGGGATCCACATTC	0.468000														63			8		0	0	1	0	0
TPTEP1	387590	broad.mit.edu	37	22	17178407	17178407	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17178407G>A	uc002zls.1	+	2		c.489G>A								Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		CGCTCAGCACGAAGGCCTTGT	0.597000														21			25		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080766	23080766	+	Missense_Mutation	SNP	G	A	A	rs138556206		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23080766G>A	uc002dll.3	-	15	2660	c.2660C>T	c.(2659-2661)tCg>tTg	p.S887L	USP31_uc002dlk.3_Missense_Mutation_p.S159L|USP31_uc010vca.2_Missense_Mutation_p.S190L|USP31_uc010bxm.3_Missense_Mutation_p.S175L	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	887	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTGAATTGGCGAATCCCCTGA	0.517000														33			4		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142643344	142643344	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142643344G>A	uc003wcb.3	-	10	1474	c.1264C>T	c.(1264-1266)Ctg>Ttg	p.L422L		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	422					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.T421T(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AAAGCCGCCAGCGTGGGCTCG	0.592000														44			4		0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4645066	4645066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:4645066C>T	uc002fyu.2	+	1	812	c.782C>T	c.(781-783)cCc>cTc	p.P261L	CXCL16_uc002fyr.4_5'Flank|CXCL16_uc002fys.4_5'Flank|ZMYND15_uc002fyv.2_Missense_Mutation_p.P261L|ZMYND15_uc002fyt.2_Missense_Mutation_p.P261L	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	261							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TCTGGGGATCCCCGAAAGCCC	0.622000														20			19		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54817803	54817803	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54817803C>T	uc021smr.1	+	22	5508	c.5508C>T	c.(5506-5508)gtC>gtT	p.V1836V	UNC13C_uc021sms.1_Silent_p.V1838V	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1838					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S1836S(1)		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)		TCAGTGGGGTCCTGGATGAGC	0.388000														32			5		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20994161	20994161	+	Missense_Mutation	SNP	G	A	A	rs145048646		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20994161G>A	uc010vbe.2	-	48	7741	c.7741C>T	c.(7741-7743)Cct>Tct	p.P2581S	DNAH3_uc010vbd.2_Missense_Mutation_p.P16S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2581	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCAGCGAAGGGAACATCCGC	0.488000														79			36		0	0	1	0	0
PPP6R1	22870	broad.mit.edu	37	19	55750817	55750817	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55750817G>A	uc002qjv.3	-	13	1976	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	PPP6R1_uc002qjw.4_Silent_p.F569F	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 1 (PPP6R1), mRNA.	569	Glu-rich.|Poly-Glu.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						CATTGAAGCCGAAGTGGTCAA	0.612000														19			5		0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23931438	23931438	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:23931438G>A	uc001ywk.3	-	0	1013	c.927C>T	c.(925-927)ccC>ccT	p.P309P		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	309					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.P309L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGTGGGCAGTGGGATTAGCCT	0.597000									Prader-Willi syndrome					56			23		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3655168	3655168	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3655168C>T	uc002fwo.4	-	15	1768	c.1669_splice	c.e15-1	p.D557_splice		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	557					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AAAGAACCATCCTGTAAAGCA	0.597000														29			25		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21739650	21739650	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21739650C>T	uc002djh.3	+	18	2106	c.2105C>T	c.(2104-2106)tCc>tTc	p.S702F	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.S623F|OTOA_uc002dji.3_Missense_Mutation_p.S378F|OTOA_uc010vbk.2_Missense_Mutation_p.S350F	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	716					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AGGGGGATCTCCCCCAGGGCT	0.577000														54			18		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	23029766	23029766	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:23029766G>A	uc021wml.1	+	180		c.9725_splice	c.e180-1		abParts_uc021wmm.1_Intron					Parts of antibodies, mostly variable regions.																		CAAGCAGACAGGGAAGTGAGA	0.517000														55			8		0	0	1	0	0
GFI1	2672	broad.mit.edu	37	1	92948963	92948963	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:92948963G>A	uc001dou.4	-	1	246	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C	GFI1_uc001dov.4_Missense_Mutation_p.R28C|GFI1_uc001dow.4_Missense_Mutation_p.R28C	NM_001127215	NP_005254	Q99684	GFI1_HUMAN	Homo sapiens growth factor independent 1 transcription repressor (GFI1), transcript variant 2, mRNA.	28					negative regulation of NF-kappaB transcription factor activity|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		TTCTCTAAACGGAGGGAATAG	0.647000														26			4		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634652	32634652	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:32634652G>A	uc003zrg.1	-	0	1016	c.926C>T	c.(925-927)tCt>tTt	p.S309F	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.	309					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)		GTTCCACAAAGACTTCTGGCT	0.498000														125			40		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7151403	7151403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:7151403G>A	uc001aoi.3	+	3	481	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GAAACACGAAGAATGGCTAAC	0.353000			T	WWTR1	epitheliod hemangioendothelioma									57			27		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160961164	160961164	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:160961164C>T	uc003qtl.3	-	36	5766	c.5646G>A	c.(5644-5646)gtG>gtA	p.V1882V		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4390	Kringle 17.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATTCGAGGTTCACTTCTTGGT	0.473000														43			39		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40412184	40412184	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40412184G>A	uc002omp.4	-	6	3452	c.3444C>T	c.(3442-3444)ggC>ggT	p.G1148G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1148	Cys-rich.|TIL 2.					extracellular region	protein binding	p.G1148S(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACAGCGGGCAGCCGTAGGAAC	0.612000														55			16		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38877381	38877381	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38877381G>A	uc021yzh.1	+	64	9710	c.9601G>A	c.(9601-9603)Gag>Aag	p.E3201K	DNAH8_uc003ooe.2_Missense_Mutation_p.E2984K|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGGCCAAGGGAGGCTCTGAT	0.448000														93			36		0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161130934	161130934	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161130934C>T	uc010pkc.2	+	2	881	c.504C>T	c.(502-504)acC>acT	p.T168T	USP21_uc010pkd.2_Silent_p.T168T	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	168					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GACCCCCTACCCTGTTCAGCA	0.607000														65			25		0	0	1	0	0
C19orf59	199675	broad.mit.edu	37	19	7742573	7742573	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7742573G>A	uc002mhh.1	+	1	170	c.145G>A	c.(145-147)Gac>Aac	p.D49N		NM_174918	NP_777578	Q8IX19	MCEM1_HUMAN	Homo sapiens chromosome 19 open reading frame 59 (C19orf59), mRNA.	49						integral to membrane				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						CAAAAATCAGGACCATGCAAA	0.567000											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			17		0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45410347	45410347	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:45410347C>T	uc001rok.1	-	3	914	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	248						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E248K(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GAAAGCACTTCCTTTTCTTTG	0.418000														124			54		0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95557267	95557267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95557267G>A	uc001kjc.4	+	7	1717	c.1381G>A	c.(1381-1383)Gga>Aga	p.G461R	LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Missense_Mutation_p.G413R|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	461					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CATGAAATGGGGAGGCTCCTC	0.443000														72			21		0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100341315	100341315	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:100341315C>T	uc001ygr.3	+	3	500	c.431C>T	c.(430-432)tCg>tTg	p.S144L	EML1_uc010avt.1_Intron|EML1_uc010tww.2_Missense_Mutation_p.S113L|EML1_uc001ygq.3_Missense_Mutation_p.S144L|EML1_uc001ygs.3_Intron	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	127						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	p.S144S(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CTGAATAGATCGACACCAAGG	0.378000														81			25		0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220396532	220396532	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220396532C>T	uc002vlz.3	+	1	1190	c.1016C>T	c.(1015-1017)tCg>tTg	p.S339L	ASIC4_uc010fwi.2_Missense_Mutation_p.S339L|ASIC4_uc010fwj.2_Missense_Mutation_p.S339L|ASIC4_uc002vly.2_Missense_Mutation_p.S339L|ASIC4_uc002vma.3_Missense_Mutation_p.S339L|ASIC4_uc002vmb.3_5'UTR	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	339						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CCGCGGAGCTCGCTGCCCAGC	0.622000														125			24		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32868615	32868615	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:32868615C>T	uc001utx.3	+	59	9187	c.8691C>T	c.(8689-8691)acC>acT	p.T2897T	FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Silent_p.T428T|FRY_uc010tdx.2_Silent_p.T267T	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2897					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCGAGCCCACCTTCACGTCCA	0.557000														74			24		0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596782	97596782	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:97596782C>T	uc003drx.3	+	0	964	c.900C>T	c.(898-900)tcC>tcT	p.S300S	CRYBG3_uc021xbn.1_Silent_p.S300S					RecName: Full=Beta/gamma crystallin domain-containing protein 3;											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AAAGTCATTCCTCAGAAAAAG	0.403000														98			9		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110474031	110474031	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110474031G>A	uc003yne.3	+	47	7381	c.7277G>A	c.(7276-7278)gGa>gAa	p.G2426E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2426					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TGTCTCCAAGGAAAGTTTGGA	0.368000										HNSCC(38;0.096)				21			5		0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170327882	170327882	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:170327882G>A	uc003isd.2	-	31	3817	c.3239C>T	c.(3238-3240)tCa>tTa	p.S1080L	NEK1_uc003ise.2_Missense_Mutation_p.S1036L|NEK1_uc003isb.2_Missense_Mutation_p.S1052L|NEK1_uc003isc.2_Missense_Mutation_p.S1008L|NEK1_uc003isf.2_Missense_Mutation_p.S983L	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	1052					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ATCTGGAAGTGAACATGTCCT	0.313000														41			23		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31914822	31914822	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31914822G>A	uc003nyj.4	+	2	615	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	CFB_uc011dor.2_Missense_Mutation_p.E615K|CFB_uc011dos.1_3'UTR|CFB_uc003nyi.2_Missense_Mutation_p.E113K	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	113	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.G112G(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CGAGAACGGGGAATACTGGCC	0.532000														61			29		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197189858	197189858	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:197189858C>T	uc002utm.1	-	5	770	c.587G>A	c.(586-588)gGg>gAg	p.G196E	HECW2_uc002utl.1_Intron	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	196	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.G196W(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TTTCTTTAGCCCAACTGCCCT	0.498000														91			41		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328431	57328431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57328431G>A	uc002qnu.2	-	6	1730	c.1379C>T	c.(1378-1380)tCg>tTg	p.S460L	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S431L|PEG3_uc002qnv.2_Missense_Mutation_p.S460L|PEG3_uc002qnw.2_Missense_Mutation_p.S336L|PEG3_uc002qnx.2_Missense_Mutation_p.S334L|PEG3_uc010etr.2_Missense_Mutation_p.S460L	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	460					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S460S(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GACACTGAACGACCTCCCACA	0.493000														134			65		0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61824847	61824847	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:61824847G>A	uc010oos.2	+	6	1064	c.982G>A	c.(982-984)Gat>Aat	p.D328N	NFIA_uc001czy.3_Missense_Mutation_p.D275N|NFIA_uc001czw.3_Missense_Mutation_p.D283N|NFIA_uc001czv.3_Missense_Mutation_p.D283N	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	283					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GTCTGTGGAGGATGAAATGGA	0.512000														186			14		0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27941044	27941044	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27941044G>A	uc001boj.3	-	8	1292	c.1146C>T	c.(1144-1146)gaC>gaT	p.D382D	FGR_uc001boi.3_Silent_p.D85D|FGR_uc001bok.3_Silent_p.D382D|FGR_uc001bol.3_Silent_p.D382D|FGR_uc001bom.3_Silent_p.D382D	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	382	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTGCCCTCAGGTCGCGGTGAA	0.582000														25			10		0	0	1	0	0
SLC2A2	6514	broad.mit.edu	37	3	170720368	170720368	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:170720368G>A	uc003fhe.1	-	7	1374	c.1065C>T	c.(1063-1065)gtC>gtT	p.V355V	SLC2A2_uc003fhf.1_Silent_p.V182V|SLC2A2_uc011bpu.1_Silent_p.V228V	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	355					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GACTTACAGAGACAGCAGTGA	0.428000														32			12		0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696209	10696209	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:10696209G>A	uc002kos.2	-	42	6888	c.6714C>T	c.(6712-6714)ctC>ctT	p.L2238L	PIEZO2_uc002koq.3_Silent_p.L93L	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2238						integral to membrane	ion channel activity										CAAACTGAATGAGGACCATCA	0.512000														53			20		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107013088	107013088	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:107013088G>A	uc021ser.1	-	218		c.8788C>T								Parts of antibodies, mostly variable regions.																		TGCTTCTAATGAAACCTACCC	0.507000														99			40		0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29395302	29395302	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29395302G>A	uc003nmg.3	-	0	208	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily A, member 1 (OR11A1), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CTATGATGATGAAGACATAGA	0.403000														53			32		0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8757435	8757435	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8757435G>A	uc001qur.2	-	3	590	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	AICDA_uc001qup.1_Missense_Mutation_p.R156C|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	171					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CTGGAGAGACGAACTGAATTT	0.368000														160			36		0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94185045	94185045	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94185045C>T	uc003uni.4	+	17	2596	c.2369C>T	c.(2368-2370)tCc>tTc	p.S790F	CASD1_uc003unj.4_Missense_Mutation_p.S790F	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	790						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATCTTATCATCCATTCAAGAT	0.338000														81			34		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129921147	129921147	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:129921147G>A	uc001lke.3	-	3	480	c.285C>T	c.(283-285)ttC>ttT	p.F95F	MKI67_uc001lkf.3_Silent_p.F95F|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	95					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)				TTACCTACCTGAAGGAACGAT	0.353000														44			8		0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116633463	116633463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:116633463G>A	uc001ppn.3	-	3	876	c.842C>T	c.(841-843)tCc>tTc	p.S281F	BUD13_uc001ppo.3_Intron|BUD13_uc009yzc.3_Missense_Mutation_p.S281F	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	281										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TCTGGGCAGGGAATAAGTGAC	0.512000														112			64		0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761768	55761768	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55761768A>G	uc010riv.2	-	0	334	c.334T>C	c.(334-336)Tgc>Cgc	p.C112R		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AAGAGGATGCATTCGGTTGTC	0.473000														127			44		0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113818501	113818501	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113818501G>A	uc002tis.3	+	2	235	c.102G>A	c.(100-102)ggG>ggA	p.G34G	IL36RN_uc002tit.3_Silent_p.G34G	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA.	34						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TGCATGCAGGGAAGGTCATTA	0.483000														43			11		0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24621549	24621549	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:24621549C>T	uc002zzp.4	-	8	1718	c.1301G>A	c.(1300-1302)cGa>cAa	p.R434Q	GGT5_uc002zzo.4_Missense_Mutation_p.R434Q|GGT5_uc002zzr.4_Missense_Mutation_p.R402Q|GGT5_uc002zzq.4_Missense_Mutation_p.R402Q|GGT5_uc011ajm.2_Missense_Mutation_p.R357Q	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	434					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCGGGGGCATCGCTCGCATAA	0.647000														33			8		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61621019	61621019	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61621019C>T	uc002jay.3	+	9	2311	c.2231C>T	c.(2230-2232)tCa>tTa	p.S744L	KCNH6_uc010wpl.2_Missense_Mutation_p.S621L|KCNH6_uc010wpm.2_Missense_Mutation_p.S744L|KCNH6_uc002jaz.1_Missense_Mutation_p.S691L	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	744					regulation of transcription, DNA-dependent|signal transduction			p.S744A(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GACAACCAGTCAGGTGAGCAA	0.647000														62			28		0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106772153	106772153	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:106772153C>T	uc001tlp.3	+	7	827	c.605C>T	c.(604-606)tCa>tTa	p.S202L	POLR3B_uc001tlq.3_Missense_Mutation_p.S144L	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	202					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTTGGAGCTTCAGTTACCAGG	0.408000														102			50		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587646	55587646	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55587646G>A	uc010rin.2	+	0	541	c.541G>A	c.(541-543)Gag>Aag	p.E181K		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E181E(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTTCTTCTGTGAGTTCTCCTC	0.428000														135			46		0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13112081	13112081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:13112081G>A	uc010mhy.3	-	40	5636	c.5579C>T	c.(5578-5580)cCt>cTt	p.P1860L	MPDZ_uc003zkx.4_Intron|MPDZ_uc003zky.4_Missense_Mutation_p.P423L|MPDZ_uc010mib.3_Missense_Mutation_p.P594L|MPDZ_uc010mhx.3_Missense_Mutation_p.P711L|MPDZ_uc011lmm.2_Missense_Mutation_p.P748L|MPDZ_uc003zkz.4_Missense_Mutation_p.P582L|MPDZ_uc010mhz.3_Missense_Mutation_p.P1856L|MPDZ_uc011lmn.2_Missense_Mutation_p.P1827L|MPDZ_uc003zlb.4_Missense_Mutation_p.P1860L	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1889					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AATAAATATAGGCACATCACC	0.473000														23			14		0	0	1	0	0
UCP1	7350	broad.mit.edu	37	4	141484541	141484541	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:141484541G>A	uc011chj.2	-	2	533	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	UCP1_uc011chk.2_Missense_Mutation_p.R152C	NM_021833	NP_068605	P25874	UCP1_HUMAN	Homo sapiens uncoupling protein 1 (mitochondrial, proton carrier) (UCP1), nuclear gene encoding mitochondrial protein, mRNA.	153					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					CCCGTGTAGCGAGGTTTGATT	0.463000														86			47		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97547984	97547984	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:97547984C>T	uc001drv.3	-	21	2946	c.2809G>A	c.(2809-2811)Gaa>Aaa	p.E937K		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	937					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTGCTCAATTCACCAAATGTT	0.363000														144			34		0	0	1	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15352085	15352085	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:15352085C>T	uc002yji.2	-	0		c.681G>A			ANKRD20A11P_uc002yjj.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA.																		GCTCCATCTCCGCGGCGTCGC	0.667000														29			5		0	0	1	0	0
DSN1	79980	broad.mit.edu	37	20	35390870	35390870	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:35390870G>A	uc010gfr.3	-	5	957	c.584C>T	c.(583-585)tCa>tTa	p.S195L	DSN1_uc002xfz.3_Missense_Mutation_p.S195L|DSN1_uc002xfy.4_5'UTR|DSN1_uc010zvs.2_Missense_Mutation_p.S88L|DSN1_uc002xga.3_Missense_Mutation_p.S195L|DSN1_uc002xgc.3_Missense_Mutation_p.S179L|DSN1_uc002xgb.3_Missense_Mutation_p.S179L	NM_001145316	NP_001138790	Q9H410	DSN1_HUMAN	Homo sapiens DSN1, MIND kinetochore complex component, homolog (S. cerevisiae) (DSN1), transcript variant 1, mRNA.	195					cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TTACCCATTTGAATCTTCAAA	0.423000														41			13		0	0	1	0	0
CCDC77	84318	broad.mit.edu	37	12	549866	549866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:549866C>T	uc001qig.3	+	10	1305	c.1125C>T	c.(1123-1125)gcC>gcT	p.A375A	CCDC77_uc009zdk.3_Silent_p.A343A|CCDC77_uc010sdp.2_Silent_p.A343A|CCDC77_uc010sdq.2_Silent_p.A343A	NM_032358	NP_001123620	Q9BR77	CCD77_HUMAN	Homo sapiens coiled-coil domain containing 77 (CCDC77), transcript variant 1, mRNA.	375						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AAGAACTTGCCCGAATTCGTG	0.433000														67			20		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90024714	90024714	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:90024714G>A	uc003kju.3	+	48	10486	c.10390G>A	c.(10390-10392)Gat>Aat	p.D3464N	GPR98_uc003kjt.3_Missense_Mutation_p.D1170N|GPR98_uc003kjv.3_Missense_Mutation_p.D1064N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3464					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCAGCCAATGATATTTACCT	0.353000														28			15		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34038291	34038291	+	Splice_Site	SNP	G	A	A	rs139241831		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34038291G>A	uc001bxm.1	-	50	7754	c.7577_splice	c.e50-1	p.A2526_splice	CSMD2_uc001bxn.1_Splice_Site_p.A2528_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2528	Sushi 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACAGGAAAGAGCTAGCAAAAG	0.448000														63			15		0	0	1	0	0
C20orf118	140711	broad.mit.edu	37	20	35504607	35504607	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:35504607G>A	uc002xgg.1	+	0	38	c.30G>A	c.(28-30)cgG>cgA	p.R10R	C20orf118_uc021wcz.1_Silent_p.R10R	NM_080628	NP_542195	A0PJX2	CT118_HUMAN	Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA.	10										kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	9		Myeloproliferative disorder(115;0.00874)				GTTACACTCGGCTGGTAAGGG	0.637000														132			13		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130285592	130285592	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130285592C>T	uc010htl.3	+	3	1360	c.1329C>T	c.(1327-1329)ggC>ggT	p.G443G		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	443	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTATCGATGGCTCAGGGAGCA	0.478000														43			9		0	0	1	0	0
TUBG1	7283	broad.mit.edu	37	17	40762196	40762196	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:40762196C>T	uc002ian.3	+	1	518	c.120C>T	c.(118-120)ttC>ttT	p.F40F	FAM134C_uc002ial.2_5'Flank|FAM134C_uc010wgq.1_5'Flank|FAM134C_uc002iam.1_5'Flank|FAM134C_uc010cyk.1_Intron	NM_001070	NP_001061	P23258	TBG1_HUMAN	Homo sapiens tubulin, gamma 1 (TUBG1), mRNA.	40					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TGGAGGAGTTCGCCACCGAGG	0.657000														76			45		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958995	54958995	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:54958995G>A	uc003dhl.3	-	1	389	c.255C>T	c.(253-255)tcC>tcT	p.S85S	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	85						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GATTTGAAAGGGAATTGTTGG	0.448000														32			14		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916090	42916090	+	Missense_Mutation	SNP	G	A	A	rs150584658		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42916090G>A	uc003cmh.3	-	0	1544	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	407					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)		TTGAGGAAGCGATCGTACTTG	0.557000														186			66		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108202275	108202275	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:108202275C>T	uc001pkb.1	+	50	8005	c.7620C>T	c.(7618-7620)gtC>gtT	p.V2540V	ATM_uc009yxr.1_Silent_p.V2540V|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Non-coding_Transcript|ATM_uc001pke.2_Silent_p.V1192V|ATM_uc001pkg.1_Silent_p.V897V	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2540	FAT.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTCATGAAGTCCTCAATAATG	0.313000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				65			19		0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50776819	50776819	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:50776819G>A	uc002xwl.3	-	4	955	c.606C>T	c.(604-606)ccC>ccT	p.P202P	ZFP64_uc002xwk.3_Silent_p.P202P|ZFP64_uc002xwm.3_Silent_p.P200P|ZFP64_uc002xwn.3_Silent_p.P148P	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TACACTTGTAGGGCTTCACGC	0.547000														104			51		0	0	1	0	0
KLK12	43849	broad.mit.edu	37	19	51535261	51535261	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51535261G>A	uc002pvh.1	-	3	445	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	KLK12_uc002pvg.1_Missense_Mutation_p.R110W|KLK12_uc010ycp.1_Non-coding_Transcript|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvi.1_Missense_Mutation_p.R110W|KLK12_uc002pvj.1_Intron	NM_019598	NP_062544	Q9UKR0	KLK12_HUMAN	Homo sapiens kallikrein-related peptidase 12 (KLK12), transcript variant 1, mRNA.	110	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)		CGCAGCAGCCGGAGGTCGTGC	0.682000														20			10		0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135975712	135975712	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135975712G>A	uc004cco.3	-	16	2532	c.2512C>T	c.(2512-2514)Ctg>Ttg	p.L838L	RALGDS_uc004ccn.3_Silent_p.L26L|RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Silent_p.L826L|RALGDS_uc004ccr.3_Silent_p.L837L|RALGDS_uc011mcv.2_Silent_p.L809L|RALGDS_uc004ccs.3_Silent_p.L783L|RALGDS_uc011mcw.2_Silent_p.L909L|RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccv.1_3'UTR|RALGDS_uc004ccu.1_3'UTR	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	838	Ras-associating.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TCCTCCTCCAGGTTGTGTTTG	0.597000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									200			122		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594435	123594435	+	Missense_Mutation	SNP	C	T	T	rs141109529		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:123594435C>T	uc003vle.3	+	2	1250	c.811C>T	c.(811-813)Cct>Tct	p.P271S	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.P271S|SPAM1_uc022aks.1_Missense_Mutation_p.P271S|SPAM1_uc003vlf.4_Missense_Mutation_p.P271S|SPAM1_uc010lku.3_Missense_Mutation_p.P271S	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	271					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)	TCAGCAGTCTCCTGTAGCTGC	0.413000														110			40		0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7864234	7864234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7864234C>T	uc001qtf.3	+	0	146	c.68C>T	c.(67-69)tCc>tTc	p.S23F		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	23						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GAAGAAAATTCCCGGGACGAT	0.468000														32			19		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86010787	86010787	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:86010787C>T	uc003dql.3	+	6	939	c.939C>T	c.(937-939)ctC>ctT	p.L313L	CADM2_uc003dqj.3_Silent_p.L311L|CADM2_uc003dqk.3_Silent_p.L320L|CADM2_uc003dqm.2_Silent_p.L203L|CADM2_uc021xay.1_Silent_p.L203L|CADM2_uc021xaz.1_Silent_p.L203L|CADM2_uc021xba.1_Silent_p.L203L	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	311					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AATATGTTCTCATTGTGCATG	0.348000														82			21		0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27463978	27463978	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:27463978C>T	uc003xfy.2	-	3	490	c.343G>A	c.(343-345)Gag>Aag	p.E115K	CLU_uc003xfw.2_Missense_Mutation_p.E104K|CLU_uc003xfx.2_Missense_Mutation_p.E104K|CLU_uc003xfz.2_Missense_Mutation_p.E104K	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	104					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		ATCATGGTCTCATTGCACACT	0.552000														145			51		0	0	1	0	0
TCRBV21S1	0	broad.mit.edu	37	7	142223992	142223992	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142223992C>T	uc003vyi.2	-	1	192	c.175G>A	c.(175-177)Gga>Aga	p.G59R	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GGGCCCTGTCCCAGGATCTGC	0.488000														65			23		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37603235	37603235	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:37603235C>T	uc002yvg.3	+	13	2232	c.2153C>T	c.(2152-2154)tCg>tTg	p.S718L	DOPEY2_uc011aeb.2_Missense_Mutation_p.S718L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	718					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						CCATCGTCTTCGCCCAGCAGC	0.552000														44			20		0	0	1	0	0
TMEM242	729515	broad.mit.edu	37	6	157743827	157743827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:157743827G>A	uc003sih.4	-	1	821	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_018452	NP_060922	Q9NWH2	CF035_HUMAN	Homo sapiens transmembrane protein 242 (TMEM242), mRNA.	33						integral to membrane											CGGTACCAAGGAAAATTCCAC	0.373000														67			53		0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69727233	69727233	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:69727233C>T	uc002exm.2	+	11	3787	c.3451C>T	c.(3451-3453)Cag>Tag	p.Q1151*	NFAT5_uc002exj.2_Nonsense_Mutation_p.Q1075*|NFAT5_uc002exk.2_Nonsense_Mutation_p.Q1075*|NFAT5_uc002exl.2_Nonsense_Mutation_p.Q1169*|NFAT5_uc002exn.2_Nonsense_Mutation_p.Q1168*|NFAT5_uc002exo.2_Non-coding_Transcript|NFAT5_uc002exi.3_Nonsense_Mutation_p.Q1075*	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	1151					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GAATAATCTTCAGACTAACAC	0.428000														152			68		0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93588254	93588254	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:93588254G>A	uc010urc.2	-	3	1582	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	RGMA_uc002bsq.2_Silent_p.L427L|RGMA_uc021svs.1_Silent_p.L427L|RGMA_uc021svt.1_Silent_p.L427L|RGMA_uc010boi.2_Silent_p.L334L|RGMA_uc002bsr.2_Silent_p.L334L|RGMA_uc021svu.1_Silent_p.L427L|RGMA_uc002bss.2_Silent_p.L443L	NM_001166283	NP_001159761	Q96B86	RGMA_HUMAN	Homo sapiens RGM domain family, member A (RGMA), transcript variant 1, mRNA.	443					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			AGCAGGGCCAGGAGCGGGACG	0.716000														14			13		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117691445	117691445	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117691445C>T	uc001twn.2	-	17	3459	c.2748G>A	c.(2746-2748)gtG>gtA	p.V916V	NOS1_uc021ren.1_Silent_p.V546V|NOS1_uc021reo.1_Silent_p.V546V|NOS1_uc001twm.2_Silent_p.V882V	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	882	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTGCTCACCTCACATTGGCCA	0.557000														78			23		0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33016598	33016598	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:33016598G>A	uc010abe.1	-	6	2098	c.2076C>T	c.(2074-2076)tcC>tcT	p.S692S	N4BP2L2_uc001uug.2_Silent_p.S575S|N4BP2L2_uc010abd.1_Silent_p.S605S|N4BP2L2_uc001uuh.2_Silent_p.S523S|N4BP2L2_uc001uuj.2_Silent_p.S111S|N4BP2L2_uc010tdz.1_Silent_p.S677S	NM_033111	NP_149102	Q92802	N42L2_HUMAN	Homo sapiens NEDD4 binding protein 2-like 2 (N4BP2L2), transcript variant 1, mRNA.	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTAGCTCAAGGGAACGGTAGT	0.393000														22			7		0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131923622	131923622	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:131923622C>T	uc003kxi.3	+	6	1293	c.892C>T	c.(892-894)Caa>Taa	p.Q298*	RAD50_uc003kxh.3_Nonsense_Mutation_p.Q159*	NM_005732	NP_005723	Q92878	RAD50_HUMAN	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.	298					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAGGTTTTTCAAGGGACTGA	0.323000								Homologous recombination						55			25		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121301912	121301912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:121301912G>A	uc003yox.3	+	33	4408	c.4143G>A	c.(4141-4143)aaG>aaA	p.K1381K	COL14A1_uc003yoz.3_Silent_p.K346K	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1381	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGGGTGAGAAGGCAATGAACG	0.438000														67			36		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79024751	79024751	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:79024751G>A	uc003kgc.3	+	1	235	c.163G>A	c.(163-165)Gat>Aat	p.D55N		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	55	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATCAGACCAGGATGAAGAGGG	0.323000														31			17		0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101153442	101153442	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:101153442G>A	uc003yjd.3	-	1	1776	c.1040C>T	c.(1039-1041)tCc>tTc	p.S347F	FBXO43_uc003yje.3_Missense_Mutation_p.S313F|FBXO43_uc010mbp.2_Missense_Mutation_p.S347F	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	347					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GTCAGACAGGGAATCTTCTGA	0.443000														91			40		0	0	1	0	0
NACA2	342538	broad.mit.edu	37	17	59668441	59668441	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:59668441G>A	uc002izj.2	-	0	123	c.101C>T	c.(100-102)tCa>tTa	p.S34L		NM_199290	NP_954984	Q9H009	NACA2_HUMAN	Homo sapiens nascent polypeptide-associated complex alpha subunit 2 (NACA2), mRNA.	34					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CCCTGGTACTGATTCACCACT	0.542000														86			36		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85382937	85382937	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:85382937C>T	uc002ble.3	+	4	1200	c.1033C>T	c.(1033-1035)Cga>Tga	p.R345*		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	345	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.C344Y(1)		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)			CTCTAGGTGTCGAGAAGAAGA	0.632000														93			25		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106526727	106526727	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:106526727A>G	uc003vdv.4	+	9	3105	c.3020A>G	c.(3019-3021)cAg>cGg	p.Q1007R	PIK3CG_uc003vdu.3_Missense_Mutation_p.Q1007R|PIK3CG_uc003vdw.3_Missense_Mutation_p.Q1007R	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	1007	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCACACTTCCAGAAATTTCAG	0.493000														48			24		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644414	169644414	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:169644414C>T	uc003fgd.3	+	5	631	c.364C>T	c.(364-366)Cta>Tta	p.L122L	SAMD7_uc003fge.3_Silent_p.L122L|SAMD7_uc011bpo.2_Silent_p.L23L	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	122										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			ACTAGCAGGCCTAGGGATACC	0.468000														68			35		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41008721	41008721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41008721G>A	uc003jmj.4	-	32	4085	c.3595C>T	c.(3595-3597)Cca>Tca	p.P1199S	HEATR7B2_uc003jmi.4_Missense_Mutation_p.P754S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1199							binding	p.P1199S(2)		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						CAGGGGTCTGGGATCTGCTGC	0.567000														47			26		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126328049	126328049	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126328049C>T	uc003ifj.4	+	2	5322	c.5322C>T	c.(5320-5322)ctC>ctT	p.L1774L	FAT4_uc011cgp.2_Silent_p.L72L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1774	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAAATGCTCTCGTCACATACA	0.433000														104			31		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62687998	62687998	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:62687998C>T	uc003peg.2	-	3	703	c.456G>A	c.(454-456)ttG>ttA	p.L152L		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TAATCTCTTCCAATGCATGAC	0.373000														97			29		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202710650	202710650	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:202710650G>A	uc009xag.3	-	19	3014	c.2898C>T	c.(2896-2898)ccC>ccT	p.P966P	KDM5B_uc001gyf.3_Silent_p.P930P|KDM5B_uc001gyg.1_Silent_p.P772P	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	930					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TAAGGGAGCTGGGGTCTAGGC	0.522000														41			22		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54746066	54746066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54746066C>T	uc010erh.1	-	2	315	c.191G>A	c.(190-192)gGa>gAa	p.G64E	LILRB3_uc002qew.2_Missense_Mutation_p.G64E|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.G64E|LILRB3_uc002qeh.1_Missense_Mutation_p.G64E|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.G64E|LILRB3_uc002qek.1_Missense_Mutation_p.G64E|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Missense_Mutation_p.G64E|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.G64E|LILRB3_uc002qep.1_Missense_Mutation_p.G64E|LILRB3_uc002qeq.1_Missense_Mutation_p.G64E|LILRB3_uc010yep.1_Missense_Mutation_p.G64E|LILRB3_uc010yeq.1_Missense_Mutation_p.G64E|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.G64E|LILRB3_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	64	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTCTGGGCTTCCCTCTTTATC	0.587000														355			79		0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29398864	29398864	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:29398864G>A	uc001zck.3	+	10	1963	c.1759G>A	c.(1759-1761)Ggc>Agc	p.G587S	APBA2_uc010azj.2_Missense_Mutation_p.G575S|APBA2_uc010uat.2_Missense_Mutation_p.G575S|APBA2_uc001zcl.3_Missense_Mutation_p.G575S	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	587	PDZ 1.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGTGGAGTCGGGCTGGGGCTC	0.652000														75			6		0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945668	72945668	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:72945668G>A	uc021qna.1	+	0	464	c.464G>A	c.(463-465)gGg>gAg	p.G155E	P2RY2_uc001otk.3_Missense_Mutation_p.G155E|P2RY2_uc001otj.3_Missense_Mutation_p.G155E|P2RY2_uc001otl.3_Missense_Mutation_p.G155E	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	155					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CGGGTGGCCGGGGCCGTGTGG	0.716000														69			13		0	0	1	0	0
WBP1L	54838	broad.mit.edu	37	10	104572539	104572539	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104572539C>T	uc001kwf.4	+	3	627	c.543C>T	c.(541-543)ccC>ccT	p.P181P	WBP1L_uc009xxg.1_Intron|WBP1L_uc001kwe.4_Silent_p.P160P	NM_001083913	NP_001077382	Q9NX94	OPA1L_HUMAN	Homo sapiens chromosome 10 open reading frame 26 (C10orf26), transcript variant 1, mRNA.	160	Pro-rich.					integral to membrane											AGAGCAGCCCCTTGTCTGAGC	0.647000														32			25		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88380164	88380164	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:88380164G>A	uc001tam.1	-	9	1015	c.847C>T	c.(847-849)Cat>Tat	p.H283Y	C12orf50_uc001tan.3_Missense_Mutation_p.H298Y	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	283										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CCTTTAAAATGAGGCTTCTTC	0.323000														43			18		0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412272	154412272	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:154412272C>T	uc011efe.2	+	4	1631	c.1108C>T	c.(1108-1110)Ctt>Ttt	p.L370F	OPRM1_uc011efd.2_Missense_Mutation_p.L177F|OPRM1_uc011efc.1_Missense_Mutation_p.L196F|OPRM1_uc003qpn.2_Missense_Mutation_p.L277F|OPRM1_uc003qpo.1_Missense_Mutation_p.L277F|OPRM1_uc011eff.1_Missense_Mutation_p.L277F|OPRM1_uc011efg.1_Missense_Mutation_p.L277F|OPRM1_uc011efi.2_Missense_Mutation_p.L277F|OPRM1_uc011efh.1_Missense_Mutation_p.L277F|OPRM1_uc003qpq.1_Missense_Mutation_p.L277F|OPRM1_uc003qpr.2_Missense_Mutation_p.L277F|OPRM1_uc003qpt.1_Missense_Mutation_p.L277F|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.L177F|OPRM1_uc003qpu.2_Missense_Mutation_p.L177F	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	277					behavior|negative regulation of cell proliferation|sensory perception	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.R369C(2)|p.R369H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	GGACAGGAATCTTCGAAGGAT	0.488000														45			36		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124594553	124594553	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124594553C>T	uc001lgs.3	-	8	2002	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	CUZD1_uc001lgp.3_Missense_Mutation_p.E70K|CUZD1_uc009yad.3_Missense_Mutation_p.E70K|CUZD1_uc009yaf.3_5'UTR|CUZD1_uc001lgr.3_Missense_Mutation_p.E70K|CUZD1_uc010qty.2_Missense_Mutation_p.E70K|CUZD1_uc009yae.3_Missense_Mutation_p.E70K|CUZD1_uc010qtz.2_Missense_Mutation_p.E351K	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	351	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GTGATCACTTCAGAAGTTGAG	0.338000														74			30		0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119886646	119886646	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:119886646G>A	uc011bjf.2	-	8	2058	c.1678C>T	c.(1678-1680)Cct>Tct	p.P560S	GPR156_uc011bjg.2_Missense_Mutation_p.P556S	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	560						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GAAGCCTCAGGGCCCAGGCCC	0.587000														117			57		0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46716030	46716030	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:46716030G>A	uc002eef.4	-	2	259	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	VPS35_uc002eed.3_5'Flank|VPS35_uc002eee.3_Missense_Mutation_p.R15W	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	54					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATAGAAGTCCGGAGTTCACCA	0.333000														41			10		0	0	1	0	0
RBP5	83758	broad.mit.edu	37	12	7280989	7280989	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7280989G>A	uc001qsq.3	-	1	194	c.99C>T	c.(97-99)atC>atT	p.I33I	CLSTN3_uc001qsr.3_5'Flank	NM_031491	NP_113679	P82980	RET5_HUMAN	Homo sapiens retinol binding protein 5, cellular (RBP5), mRNA.	33						cytoplasm	retinal binding|retinol binding|transporter activity			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Vitamin A(DB00162)	GCAGCAGCGCGATCTTCCGCA	0.607000														54			14		0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12300456	12300456	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:12300456G>A	uc001rah.4	-	14	3383	c.3241C>T	c.(3241-3243)Cct>Tct	p.P1081S	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.P1081S	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1081	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCAATTTTAGGAGACCTTTCC	0.408000														160			47		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250719	140250719	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140250719C>T	uc003lia.2	+	0	2889	c.2031C>T	c.(2029-2031)gcC>gcT	p.A677A	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_uc011dae.2_Silent_p.A677A	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	687	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)			CGCCAAAGGCCTCTTCCCGGA	0.652000														82			7		0	0	1	0	0
FAM45A	404636	broad.mit.edu	37	X	129629752	129629752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:129629752G>A	uc010nrh.3	+	0	838	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	BC043223_uc004evu.3_Intron	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	207										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		GTGTGGCACCGACAGGACTGG	0.537000														36			18		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47882631	47882631	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:47882631G>A	uc003tny.2	-	33	5408	c.5374C>T	c.(5374-5376)Ctg>Ttg	p.L1792L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1792					cell-cell adhesion	integral to membrane		p.L1792L(3)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGGCCCGGCAGGGAAGCTTCT	0.478000														45			6		0	0	1	0	0
WDR13	64743	broad.mit.edu	37	X	48458948	48458948	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:48458948C>T	uc004dkj.2	+	4	1270	c.765C>T	c.(763-765)atC>atT	p.I255I	WDR13_uc004dkk.2_Silent_p.I163I|WDR13_uc004dkl.4_Silent_p.I163I|WDR13_uc011mme.2_Silent_p.I133I	NM_017883	NP_001159898	Q9H1Z4	WDR13_HUMAN	Homo sapiens WD repeat domain 13 (WDR13), transcript variant 1, mRNA.	255						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TCCGAGAGATCCCTGACCCCG	0.597000														8			10		0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20803324	20803324	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20803324G>A	uc010vba.2	+	11	1489	c.1414_splice	c.e11-1	p.D472_splice	ACSM3_uc002dhr.3_Splice_Site_p.D443_splice|ERI2_uc002dhs.3_Intron	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	443					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGTTTTGCAGGATAATCCTTC	0.368000														66			38		0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1149546	1149546	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:1149546C>T	uc009xhm.1	+	9	907	c.734C>T	c.(733-735)tCt>tTt	p.S245F	WDR37_uc001igf.1_Missense_Mutation_p.S244F|WDR37_uc009xhn.1_Non-coding_Transcript|WDR37_uc001igg.1_Non-coding_Transcript	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	Homo sapiens WD repeat domain 37 (WDR37), mRNA.	244										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CAGCAGATATCTGGGGAAGAT	0.498000														38			13		0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22291883	22291883	+	Nonsense_Mutation	SNP	C	T	T	rs146341538		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:22291883C>T	uc001mqi.2	+	17	2241	c.1924C>T	c.(1924-1926)Cga>Tga	p.R642*	ANO5_uc001mqj.2_Nonsense_Mutation_p.R641*	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	642						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGGAGACGCCGAAAAGCTCG	0.418000														81			22		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2924928	2924928	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:2924928G>A	uc003bpc.3	+	8	1091	c.752G>A	c.(751-753)gGa>gAa	p.G251E	CNTN4_uc003bpb.1_Intron|CNTN4_uc021wsg.1_Missense_Mutation_p.G251E|CNTN4_uc003bpd.1_Missense_Mutation_p.G251E	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	251	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTTGCTTTAGGAAAGTAAGTT	0.468000														33			6		0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867339	6867339	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6867339G>A	uc001met.1	+	0	426	c.426G>A	c.(424-426)cgG>cgA	p.R142R		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAAGGACACGGGCCAAACTGG	0.537000														146			40		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10916776	10916776	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10916776C>T	uc003bvz.3	+	5	921	c.887C>T	c.(886-888)cCc>cTc	p.P296L		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	296					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CTCTCCGACCCCCAGGTAAGA	0.592000														73			9		0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71604584	71604584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71604584C>T	uc002fap.2	-	7	1009	c.910G>A	c.(910-912)Gag>Aag	p.E304K		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	304					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	ATTATCACCTCATTGCCAAAA	0.473000														49			16		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171227237	171227237	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171227237G>A	uc009wvz.3	+	1	147	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	FMO1_uc010pme.2_Missense_Mutation_p.R4Q|FMO1_uc001ghl.3_Missense_Mutation_p.R4Q|FMO1_uc001ghm.3_Missense_Mutation_p.R4Q	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	4					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGGCCAAGCGAGTTGCCATT	0.537000														52			21		0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15636352	15636352	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15636352C>T	uc002nbh.4	+	2	372	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	69						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CAACTGGCTGCTGGGCCACCT	0.672000														37			17		0	0	1	0	0
FKRP	79147	broad.mit.edu	37	19	47258815	47258815	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:47258815C>T	uc002pfn.2	+	3	405	c.108C>T	c.(106-108)gcC>gcT	p.A36A	FKRP_uc002pfp.2_Silent_p.A36A|FKRP_uc021uwj.1_Silent_p.A36A	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.	36						Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		ATTCCCGGGCCCGGGGGCCCC	0.677000														16			3		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76565478	76565478	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76565478C>T	uc010dhp.2	-	7	1301	c.1176G>A	c.(1174-1176)gtG>gtA	p.V392V	DNAH17_uc002jvv.2_Silent_p.V94V	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTTCATGTTCACGCAGCAGA	0.522000														12			7		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110855942	110855942	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:110855942C>T	uc001vqw.4	-	17	1092	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	324	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGACCTGCTTCACCCTTTTCT	0.458000														125			35		0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624786	123624786	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123624786C>T	uc010rzy.2	-	0	441	c.441G>A	c.(439-441)tgG>tgA	p.W147*		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGCCCACCACCCAGGAGCTCA	0.512000														83			21		0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38877616	38877616	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:38877616C>T	uc002ywk.3	+	8	1346	c.1270C>T	c.(1270-1272)Cat>Tat	p.H424Y	DYRK1A_uc002ywi.3_Missense_Mutation_p.H424Y|DYRK1A_uc002ywj.3_Missense_Mutation_p.H415Y|DYRK1A_uc002ywm.3_Missense_Mutation_p.H424Y|DYRK1A_uc011aei.2_Missense_Mutation_p.H185Y	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	424	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCGTAAACTTCATAACATTCT	0.438000														55			36		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650952	94650952	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94650952C>T	uc001dqj.4	-	16	2235	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Silent_p.T188T	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	622					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding	p.T622T(2)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCCTACATTTCGTGGGGGATC	0.398000														95			29		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3432637	3432637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:3432637C>T	uc003ggw.3	+	16	4973	c.4069C>T	c.(4069-4071)Ccg>Tcg	p.P1357S	RGS12_uc003ggv.3_Missense_Mutation_p.P1357S|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.3_Missense_Mutation_p.P709S|RGS12_uc011bvs.2_3'UTR|RGS12_uc003gha.3_Missense_Mutation_p.P699S|RGS12_uc010icv.3_Missense_Mutation_p.P556S	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1357						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	p.P1357L(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACCTTGCTGCCGCCGCCCTC	0.667000														34			14		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140167471	140167471	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:140167471G>A	uc003etn.3	+	5	1088	c.898G>A	c.(898-900)Gag>Aag	p.E300K	CLSTN2_uc003etm.2_Missense_Mutation_p.E300K	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	300					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GATCGTCACAGAGCTGCAGAC	0.527000										HNSCC(16;0.037)				111			40		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180056393	180056393	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:180056393G>A	uc003mlz.4	-	6	930	c.851C>T	c.(850-852)tCc>tTc	p.S284F	FLT4_uc003mma.4_Missense_Mutation_p.S284F|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.2_Missense_Mutation_p.S284F|FLT4_uc011dgz.1_Intron	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	284	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGTCTGCTGGGAGCGTCGCTC	0.657000														35			20		0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58118073	58118073	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58118073C>T	uc002qpk.2	+	2	1400	c.1180C>T	c.(1180-1182)Ctt>Ttt	p.L394F	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_Intron	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAATATCTACCTTATTCACCA	0.423000														98			46		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321967	52321967	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:52321967C>T	uc003xqu.4	-	16	2318	c.2217G>A	c.(2215-2217)caG>caA	p.Q739Q	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	739					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCCACGTGGGCTGCTGCAGGT	0.697000														28			5		0	0	1	0	0
ZNF736	728927	broad.mit.edu	37	7	63809132	63809132	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:63809132C>T	uc011kdo.2	+	4	1213	c.891C>T	c.(889-891)ttC>ttT	p.F297F		NM_001170905	NP_001164376	B4DX44	ZN736_HUMAN	Homo sapiens zinc finger protein 736 (ZNF736), mRNA.	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						ATAGGTGGTTCTCAGACCTTG	0.378000														19			7		0	0	1	0	0
CSE1L	1434	broad.mit.edu	37	20	47700684	47700684	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:47700684C>T	uc002xty.3	+	14	1738	c.1604C>T	c.(1603-1605)cCt>cTt	p.P535L	CSE1L_uc010zyg.2_Missense_Mutation_p.P318L|CSE1L_uc010ghx.3_Missense_Mutation_p.P479L|CSE1L_uc010ghy.3_Intron|CSE1L_uc010zyh.2_Missense_Mutation_p.P184L	NM_001316	NP_001307	P55060	XPO2_HUMAN	Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.	535					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ATGCGAGGGCCTAACAATGCC	0.403000														109			18		0	0	1	0	0
TPSG1	25823	broad.mit.edu	37	16	1272059	1272059	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1272059C>T	uc002ckw.2	-	5	697	c.695G>A	c.(694-696)gGt>gAt	p.G232D		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	Homo sapiens tryptase gamma 1 (TPSG1), mRNA.	232	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				CACCCAGGCACCGTTCACCTG	0.667000														41			17		0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38953243	38953243	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:38953243G>A	uc002hvh.1	-	4	969	c.903C>T	c.(901-903)ttC>ttT	p.F301F		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	301	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GGCTCCGGGCGAAAGTGGCTG	0.657000														50			22		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8180457	8180457	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8180457G>A	uc002mjf.3	-	28	3797	c.3780C>T	c.(3778-3780)tcC>tcT	p.S1260S		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1260	EGF-like 18; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCAGACAAAGGAACCCTTCG	0.612000														43			12		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52200481	52200481	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52200481G>A	uc001ryw.3	+	26	5389	c.5211G>A	c.(5209-5211)ggG>ggA	p.G1737G	SCN8A_uc010snl.2_Silent_p.G1696G	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1737					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GAGATTGTGGGAACCCCTCAG	0.512000														52			25		0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37224179	37224179	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:37224179G>A	uc002hrg.2	-	13	1629	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	LOC100131347_uc002hre.1_Intron|LOC100131347_uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Missense_Mutation_p.R169C|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	473					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGGTGGCTGCGAAACTTCATG	0.617000														40			21		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027525	37027525	+	Missense_Mutation	SNP	G	A	A	rs139443110		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:37027525G>A	uc004ddl.2	+	0	1094	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	348								p.P347P(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGAGCCTCCCGAGACTGGAGT	0.627000														48			61		0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108618544	108618544	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:108618544C>T	uc001tms.3	+	4	1455	c.711C>T	c.(709-711)ttC>ttT	p.F237F	WSCD2_uc001tmt.3_Silent_p.F237F|WSCD2_uc001tmu.3_5'UTR	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	237	WSC 2.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGGGCTGCTTCCGCAGGCCCG	0.532000														93			27		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212745	62212745	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:62212745G>A	uc003xuh.3	+	1	683	c.359G>A	c.(358-360)aGg>aAg	p.R120K	CLVS1_uc003xug.2_Missense_Mutation_p.R120K|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	120	CRAL-TRIO.				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						GGCATTAAGAGGGCTCTGATC	0.502000														42			23		0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44680451	44680451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44680451C>T	uc002oys.3	+	5	1216	c.1036C>T	c.(1036-1038)Cgt>Tgt	p.R346C	ZNF226_uc002oyp.3_Missense_Mutation_p.R346C|ZNF226_uc002oyq.3_Missense_Mutation_p.R229C|ZNF226_uc002oyr.3_Missense_Mutation_p.R229C|ZNF226_uc002oyt.3_Missense_Mutation_p.R346C	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AGGTTTCAGTCGTAGATCAGC	0.463000														93			37		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63680439	63680439	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:63680439C>T	uc011kdn.2	+	3	1010	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TTTAACTGCTCCTCGACTCTT	0.423000														63			21		0	0	1	0	0
C10orf81	79949	broad.mit.edu	37	10	115529650	115529650	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115529650C>T	uc001lat.2	+	5	1087	c.525C>T	c.(523-525)ctC>ctT	p.L175L	C10orf81_uc009xyc.2_Silent_p.L93L|C10orf81_uc001lar.2_Silent_p.L181L|C10orf81_uc001las.2_Silent_p.L93L|C10orf81_uc001lau.2_5'Flank	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	175										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		GAAATGGTCTCCAAGACAAGG	0.473000														101			42		0	0	1	0	0
VCPIP1	80124	broad.mit.edu	37	8	67578798	67578798	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:67578798G>A	uc003xwn.3	-	0	655	c.396C>T	c.(394-396)ccC>ccT	p.P132P	SGK3_uc003xwp.3_5'Flank|C8orf44_uc003xwo.2_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	132					protein ubiquitination	Golgi stack|endoplasmic reticulum	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GAGCTAATATGGGCGACAACA	0.557000														65			27		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340788	121340788	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121340788G>A	uc003eeg.2	+	2	722	c.512G>A	c.(511-513)gGa>gAa	p.G171E		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	171					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAAATGGGAGGAGCAGTGGGT	0.493000														32			16		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143013423	143013423	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143013423G>A	uc003wcr.1	+	0	205	c.118G>A	c.(118-120)Ggg>Agg	p.G40R	CLCN1_uc011ktc.1_5'UTR	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	40					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTCTGAGAATGGGGGCCTCCA	0.607000														131			47		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883252	228883252	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228883252G>A	uc002vpq.2	-	6	2365	c.2318C>T	c.(2317-2319)cCa>cTa	p.P773L	SPHKAP_uc002vpp.2_Missense_Mutation_p.P773L|SPHKAP_uc010zlx.1_Missense_Mutation_p.P773L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	773						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATTGCTAAGTGGAGAGCTGCT	0.502000														130			53		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031688	79031688	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:79031688G>A	uc003kgc.3	+	1	7172	c.7100G>A	c.(7099-7101)aGa>aAa	p.R2367K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2367						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAGAGCCAAGAAGTGATCAA	0.368000														51			17		0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	67022482	67022482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67022482C>T	uc001ojw.3	+	20	4309	c.3445C>T	c.(3445-3447)Ctc>Ttc	p.L1149F	KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Missense_Mutation_p.L843F|KDM2A_uc010rpn.2_Missense_Mutation_p.L710F|KDM2A_uc001ojz.1_3'UTR|KDM2A_uc001oka.3_Missense_Mutation_p.L273F|KDM2A_uc021qme.1_Non-coding_Transcript	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	1149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CATCAACAGCCTCTACTGCCT	0.532000														12			3		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994983	140994983	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140994983G>A	uc004fbt.3	+	3	2117	c.1793G>A	c.(1792-1794)aGc>aAc	p.S598N	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S257N	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	598							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)					TTTCCTCAGAGCCCTCCTCAG	0.587000										HNSCC(15;0.026)				160			215		0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95610021	95610021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:95610021G>A	uc004asu.1	-	4	1197	c.1048C>T	c.(1048-1050)Cat>Tat	p.H350Y	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.H352Y|ZNF484_uc004asv.1_Missense_Mutation_p.H314Y|ZNF484_uc010mrb.1_Missense_Mutation_p.H314Y	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCTCCAGAATGAATTCTCTGG	0.368000														42			15		0	0	1	0	0
GBP3	2635	broad.mit.edu	37	1	89477649	89477649	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:89477649C>T	uc001dmt.3	-	6	1135	c.930G>A	c.(928-930)atG>atA	p.M310I	GBP3_uc010oss.2_Missense_Mutation_p.M231I|GBP3_uc001dmu.3_Missense_Mutation_p.M176I|GBP3_uc001dmv.3_Intron|GBP3_uc021opp.1_Missense_Mutation_p.M310I	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	310						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CTGCGTTCTCCATGCAGGGCA	0.498000														49			27		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139653178	139653178	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:139653178C>T	uc011kqv.2	+	6	838	c.603C>T	c.(601-603)ctC>ctT	p.L201L	TBXAS1_uc003vvh.3_Silent_p.L155L|TBXAS1_uc010lne.3_Silent_p.L87L|TBXAS1_uc011kqu.2_Silent_p.L106L|TBXAS1_uc003vvi.3_Silent_p.L155L|TBXAS1_uc011kqw.2_Silent_p.L135L|TBXAS1_uc003vvj.3_Silent_p.L155L	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	154					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					TGGTTCCCCTCATCAGCCAAG	0.473000														80			23		0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127961109	127961109	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:127961109C>T	uc002tod.2	-	1	148	c.17G>A	c.(16-18)aGa>aAa	p.R6K	CYP27C1_uc021vnn.1_Missense_Mutation_p.R6K	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	6						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		AATTCTTTGTCTCAATACGCT	0.398000														187			24		0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19209673	19209673	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:19209673G>A	uc001bbb.3	-	6	899	c.623C>T	c.(622-624)tCg>tTg	p.S208L	ALDH4A1_uc010ocu.2_Missense_Mutation_p.S148L|ALDH4A1_uc001bbc.3_Missense_Mutation_p.S208L|ALDH4A1_uc021ohl.1_Missense_Mutation_p.S208L	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	208					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	GTTAAAGGGCGAGATGGCCGC	0.672000														65			32		0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17743770	17743770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:17743770G>A	uc011mix.2	+	6	1882	c.1544G>A	c.(1543-1545)gGg>gAg	p.G515E	NHS_uc004cxx.3_Missense_Mutation_p.G494E|NHS_uc004cxy.3_Missense_Mutation_p.G338E|NHS_uc004cxz.3_Missense_Mutation_p.G317E|NHS_uc004cya.3_Missense_Mutation_p.G217E	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	494						nucleus		p.G515C(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AATAGAGGTGGGGATGCTGAG	0.512000														42			22		0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102737123	102737123	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102737123G>A	uc001phk.3	-	7	1062	c.965C>T	c.(964-966)tCc>tTc	p.S322F		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	323	Hemopexin-like 1.				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGGCCATAAGGAAGAAATTAA	0.358000														15			7		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319497	21319497	+	Silent	SNP	C	T	T	rs139358757	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:21319497C>T	uc021tss.1	+	2	1213	c.843C>T	c.(841-843)ttC>ttT	p.F281F	KCNJ18_uc002gyv.1_Silent_p.F281F|KCNJ18_uc021tst.1_Silent_p.F281F	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	281						integral to membrane	inward rectifier potassium channel activity	p.F281F(1)									GCCCGCTCTTCGGCATCAGCC	0.607000														66			10		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111441412	111441412	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:111441412C>T	uc003iab.4	+	9	1959	c.1617C>T	c.(1615-1617)acC>acT	p.T539T		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	539					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ACACCTGGACCAGACAGATGG	0.403000														77			30		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103908622	103908622	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:103908622C>T	uc001kum.3	+	11	4705	c.4666C>T	c.(4666-4668)Cga>Tga	p.R1556*	PPRC1_uc001kun.3_Nonsense_Mutation_p.R1434*|PPRC1_uc010qqj.2_Nonsense_Mutation_p.R1292*|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1556	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCGCATGACTCGATCAGAGCT	0.488000														42			23		0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72723336	72723336	+	Missense_Mutation	SNP	G	A	A	rs140390474		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:72723336G>A	uc004ahm.2	+	2	975	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	120	MAM 1.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GTCAGCTAAGGAACCTTCAGA	0.438000														54			18		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2595311	2595311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2595311C>T	uc009zdu.1	+	5	1112	c.799C>T	c.(799-801)Ccc>Tcc	p.P267S	CACNA1C_uc001qkc.2_Missense_Mutation_p.P267S|CACNA1C_uc001qjz.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkd.2_Missense_Mutation_p.P267S|CACNA1C_uc001qke.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkf.2_Missense_Mutation_p.P267S|CACNA1C_uc009zdw.1_Missense_Mutation_p.P267S|CACNA1C_uc001qkg.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkh.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkl.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkj.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkk.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkn.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkm.2_Missense_Mutation_p.P267S|CACNA1C_uc001qko.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkp.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkq.2_Missense_Mutation_p.P267S|CACNA1C_uc001qku.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkr.2_Missense_Mutation_p.P267S|CACNA1C_uc001qks.2_Missense_Mutation_p.P267S|CACNA1C_uc001qkt.2_Missense_Mutation_p.P267S|CACNA1C_uc009zdv.1_Missense_Mutation_p.P267S|CACNA1C_uc001qkb.2_Missense_Mutation_p.P267S|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Missense_Mutation_p.P3S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	267					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.L266L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGCCATGGTCCCCCTGCTGCA	0.562000														21			5		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171173122	171173122	+	Missense_Mutation	SNP	G	A	A	rs147029269	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171173122G>A	uc001ghk.1	+	5	863	c.746G>A	c.(745-747)cGa>cAa	p.R249Q	FMO2_uc010pmd.1_Missense_Mutation_p.R29Q	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	249					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTACTGCCACGAACAGCTGTA	0.453000														61			22		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220333389	220333389	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220333389G>A	uc010fwg.3	+	10	3232	c.3232G>A	c.(3232-3234)Ggc>Agc	p.G1078S		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1078	Ig-like 5.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGTGTTGGAGGGCCGAGCTGC	0.637000														53			31		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45387220	45387220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45387220C>T	uc001zun.3	-	31	4512	c.4309G>A	c.(4309-4311)Gag>Aag	p.E1437K	DUOX2_uc010bea.3_Missense_Mutation_p.E1437K	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1437					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCGTTCTCCTCCACCTCTTGG	0.567000														47			23		0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176982108	176982108	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:176982108C>T	uc002ukj.3	+	0	617	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	183						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCTCAACCCTCGTGGCGCGGC	0.582000														86			27		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92590421	92590422	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92590421_92590422CC>TT	uc001pdj.4	+	18	11424_11425	c.11407_11408CC>TT	c.(11407-11409)ccg>TTg	p.P3803L	FAT3_uc001pdi.4_Missense_Mutation_p.P243L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3803	EGF-like 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTGGAGAAGCCGTGTCCAGGG	0.559000										TCGA Ovarian(4;0.039)				79			24		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65678963	65678963	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65678963G>A	uc002aou.1	-	16	3087	c.2877C>T	c.(2875-2877)atC>atT	p.I959I	IGDCC4_uc002aot.1_Silent_p.I547I	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	959						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CACCCACGATGATGCCCGTGA	0.637000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			15		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70017060	70017060	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70017060G>A	uc001opj.3	+	21	2570	c.2265G>A	c.(2263-2265)ctG>ctA	p.L755L	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc010rqk.2_Silent_p.L464L|ANO1_uc010rql.1_5'UTR	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	755					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TTGCGCTGCTGAACAACATCA	0.582000														19			4		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36118737	36118737	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:36118737C>A	uc003gsq.2	-	24	4322	c.3984G>T	c.(3982-3984)ttG>ttT	p.L1328F		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1328	Ras-associating.				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						CTTCAATTAACAAATCTCCAG	0.363000														34			7		0.00198382	0.00198529	1	1	0
WDR89	112840	broad.mit.edu	37	14	64066610	64066611	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:64066610_64066611GG>AA	uc021ruf.1	-	0	50_51	c.50_51CC>TT	c.(49-51)tcc>tTT	p.S17F	WDR89_uc001xgh.3_Missense_Mutation_p.S17F|WDR89_uc001xgi.3_Missense_Mutation_p.S17F	NM_080666	NP_542397	Q96FK6	WDR89_HUMAN	Homo sapiens WD repeat domain 89 (WDR89), transcript variant 2, mRNA.	17										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		TGGTTCCTAAGGAACATTTAAC	0.361000														117			8		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48615797	48615797	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48615797C>T	uc003ctz.2	-	64	5489	c.5488_splice	c.e64-1	p.G1830_splice		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1830	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCTGGCTTTCCCTGTGGGAA	0.562000														76			28		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229058	21229058	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21229058G>A	uc002red.3	-	25	10810	c.10682C>T	c.(10681-10683)tCc>tTc	p.S3561F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3561					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTCCCAGAGGGAATATATGCG	0.458000														58			22		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104643604	104643604	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:104643604C>T	uc001yos.4	+	11	4479	c.4479C>T	c.(4477-4479)ccC>ccT	p.P1493P		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	1493					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCCCCAAGCCCCCTGTTGGTG	0.706000														10			5		0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260327	44260327	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:44260327G>A	uc010xcy.1	-	7	1485	c.917C>T	c.(916-918)tCg>tTg	p.S306L	ST8SIA5_uc002lci.1_Missense_Mutation_p.S117L|ST8SIA5_uc002lcj.1_Missense_Mutation_p.S270L|ST8SIA5_uc010xcz.1_Missense_Mutation_p.S239L	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	270					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						AGCTTGCGGCGATTCGAAGTC	0.622000														18			9		0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51693415	51693415	+	Silent	SNP	C	T	T	rs150740618	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51693415C>T	uc001ryg.3	-	5	544	c.492G>A	c.(490-492)aaG>aaA	p.K164K	BIN2_uc009zlz.3_Silent_p.K132K|BIN2_uc001ryh.3_Silent_p.K40K|BIN2_uc010sng.2_Silent_p.K138K	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	164	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCTCATCTTTCTTCTTGGCAT	0.517000														142			73		0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224340893	224340893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:224340893C>T	uc001hoh.2	+	3	607	c.566C>T	c.(565-567)gCc>gTc	p.A189V	FBXO28_uc009xef.2_Intron|FBXO28_uc010pvc.1_5'UTR	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	Homo sapiens F-box protein 28 (FBXO28), transcript variant 1, mRNA.	189										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TCTACCAGAGCCCCTCAACGA	0.323000														81			22		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76573717	76573717	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:76573717A>C	uc002fex.1	+	18	3470	c.3331A>C	c.(3331-3333)Att>Ctt	p.I1111L	CNTNAP4_uc002feu.1_Missense_Mutation_p.I1107L|CNTNAP4_uc002fev.1_Missense_Mutation_p.I972L|CNTNAP4_uc010chb.1_Missense_Mutation_p.I1035L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1108	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCACATAATGATTAACAGAGA	0.348000														87			29		0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225639752	225639752	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:225639752G>A	uc010fwz.1	-	51	6122	c.5883C>T	c.(5881-5883)atC>atT	p.I1961I	DOCK10_uc002vob.2_Silent_p.I1955I|DOCK10_uc002voa.2_Silent_p.I617I	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1961	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCCGGTCTTCGATTTCCTTTT	0.507000														44			16		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153026600	153026600	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:153026600G>A	uc011dcy.2	+	2	390	c.363G>A	c.(361-363)ccG>ccA	p.P121P	GRIA1_uc003lva.4_Silent_p.P111P|GRIA1_uc003luy.4_Silent_p.P111P|GRIA1_uc003luz.4_Silent_p.P16P|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Silent_p.P42P|GRIA1_uc011dcz.2_Silent_p.P121P|GRIA1_uc010jia.1_Silent_p.P91P	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	111					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCATTACGCCGAGCTTTCCCG	0.493000														116			47		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271387	22271387	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22271387C>T	uc010ecx.3	+	3	1004	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	ZNF257_uc010ecy.3_Missense_Mutation_p.H247Y	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGAGAATTCATAATAGAGA	0.378000														38			14		0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34247714	34247714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:34247714G>A	uc001wru.3	+	8	1153	c.1089G>A	c.(1087-1089)ggG>ggA	p.G363G	NPAS3_uc001wrs.3_Silent_p.G350G|NPAS3_uc001wrv.3_Silent_p.G333G|NPAS3_uc001wrt.3_Silent_p.G331G	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	363	PAC.|PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ATATCGTAGGGAAGAGATGCT	0.468000														67			30		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285576	48285576	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:48285576C>T	uc010rht.2	+	0	164	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S55F(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GTGCTCACCTCCCCCATGTAT	0.478000														36			23		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102051118	102051118	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:102051118C>T	uc001kqx.1	-	11	2330	c.1947G>A	c.(1945-1947)ggG>ggA	p.G649G	PKD2L1_uc009xwm.1_Silent_p.G602G	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	649					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GAATACGATTCCCATCTCTGT	0.502000														67			48		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196722403	196722403	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196722403G>T	uc002utj.4	-	43	8213	c.8112C>A	c.(8110-8112)gtC>gtA	p.V2704V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2704	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAACAAGCTTGACACCAGCAG	0.368000														53			12		1.49906e-05	1.50165e-05	1	1	0
DNM2	1785	broad.mit.edu	37	19	10893725	10893725	+	Missense_Mutation	SNP	C	T	T	rs145607989	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10893725C>T	uc002mpt.2	+	5	968	c.778C>T	c.(778-780)Ctc>Ttc	p.L260F	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Missense_Mutation_p.L260F|DNM2_uc010dxl.2_Missense_Mutation_p.L260F|DNM2_uc002mpu.2_Missense_Mutation_p.L260F|DNM2_uc002mpv.2_Missense_Mutation_p.L260F|DNM2_uc002mpw.3_5'UTR	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	260					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GAAGTTCTTCCTCTCCCACCC	0.587000			"""F, N, Splice, Mis, O"""		ETP ALL									53			22		0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113665	18113665	+	Missense_Mutation	SNP	G	A	A	rs150320186		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:18113665G>A	uc021veh.1	+	0	1390	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	KCNS3_uc002rcv.3_Missense_Mutation_p.D464N|KCNS3_uc002rcw.3_Missense_Mutation_p.D464N	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	464					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	p.D464N(6)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTGGTGAGCGATCCTGACTC	0.453000														74			36		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61611571	61611571	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61611571C>T	uc002jay.3	+	4	1080	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S	KCNH6_uc002jax.1_Missense_Mutation_p.P334S|KCNH6_uc010wpl.2_Missense_Mutation_p.P211S|KCNH6_uc010wpm.2_Missense_Mutation_p.P334S|KCNH6_uc002jaz.1_Missense_Mutation_p.P334S	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	334					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GGTCAGCCACCCCCGCCGCAT	0.567000														56			32		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3188392	3188392	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:3188392C>T	uc021xkv.1	+	37	5080	c.4935C>T	c.(4933-4935)tcC>tcT	p.S1645S		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1645					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCCCTTCCTCCCTCCGTCCGG	0.468000														174			69		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45024569	45024569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45024569G>A	uc010ejn.1	-	4	985	c.969C>T	c.(967-969)gcC>gcT	p.A323A	CEACAM20_uc010ejo.1_Silent_p.A323A|CEACAM20_uc010ejp.1_Silent_p.A323A|CEACAM20_uc010ejq.1_Silent_p.A323A	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	323	Ig-like C2-type 3.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGACCTCACAGGCATAGGGCC	0.642000														47			20		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84609614	84609614	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:84609614G>A	uc004amn.3	+	3	4276	c.4229G>A	c.(4228-4230)aGg>aAg	p.R1410K		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1410						integral to membrane		p.T1409S(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AAAGACACTAGGGAGTTCCTA	0.498000														17			7		0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77274304	77274304	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:77274304G>A	uc001xsv.3	-	2	950	c.837C>T	c.(835-837)ttC>ttT	p.F279F		NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	279										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TGAGGTTCACGAAGCGATAGT	0.512000														57			22		0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124515299	124515299	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124515299G>A	uc003eho.3	-	9	1926	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	543	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		AAGGCCCATAGATCTTGCCAA	0.587000														124			18		0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6599215	6599215	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:6599215C>T	uc002gdj.3	-	6	973	c.885G>A	c.(883-885)gaG>gaA	p.E295E	SLC13A5_uc010clq.3_Silent_p.E252E|SLC13A5_uc002gdk.3_Silent_p.E278E|SLC13A5_uc010vtf.2_Silent_p.E295E|SLC13A5_uc002gdl.1_Silent_p.E277E	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	295						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GGGCAGCCTTCTCGTTTTTCT	0.562000														94			60		0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5730827	5730827	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5730827C>T	uc001mbr.3	+	7	1825	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Silent_p.F310F|TRIM22_uc009yes.3_Silent_p.F478F|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	482	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		ATCCGTATTTCAATCCTTGGA	0.483000														178			35		0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67912442	67912443	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67912442_67912443CC>TT	uc002eur.3	+	9	1331_1332	c.1092_1093CC>TT	c.(1090-1095)gtccct>gtTTct	p.P365S	EDC4_uc010cer.3_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.P297S|EDC4_uc002eus.3_Missense_Mutation_p.P95S	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	365					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTTGCAGTGTCCCTTTCTGGAG	0.564000														83			34		0	0	1	0	0
FGF7	2252	broad.mit.edu	37	15	49716709	49716709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:49716709G>A	uc001zxn.3	+	1	744	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	72					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	CTCTTCTGTCGAACACAGTGG	0.408000														68			30		0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74904519	74904519	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:74904519C>T	uc001owb.3	+	8	1727	c.1332C>T	c.(1330-1332)gcC>gcT	p.A444A	SLCO2B1_uc010rrq.2_Silent_p.A189A|SLCO2B1_uc010rrr.2_Silent_p.A300A|SLCO2B1_uc010rrs.2_Silent_p.A328A|SLCO2B1_uc001owc.3_Silent_p.A217A|SLCO2B1_uc001owd.3_Silent_p.A422A	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	444					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GATGCGGTGCCCTTTGCCTGC	0.632000														41			12		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15646221	15646222	+	Missense_Mutation	DNP	CG	TA	TA	rs45604340		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15646221_15646222CG>TA	uc001ioc.1	-	19	2103_2104	c.2103_2104CG>TA	c.(2101-2106)atcgaa>atTAaa	p.E702K	ITGA8_uc010qcb.1_Missense_Mutation_p.E687K	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	702					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.I701I(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTGTTGCGTTCGATTCCAACAT	0.381000														77			36		0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018323	1018324	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:1018323_1018324CC>TT	uc003gce.3	+	5	1104_1105	c.943_944CC>TT	c.(943-945)ccc>TTc	p.P315F	FGFRL1_uc003gcf.3_Missense_Mutation_p.P315F|FGFRL1_uc003gcg.3_Missense_Mutation_p.P315F|FGFRL1_uc010ibo.3_Missense_Mutation_p.P315F	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	315	Ig-like C2-type 3.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTGGTCGCGGCCCGACGGCTCC	0.649000														74			18		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458559	45458559	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:45458559G>A	uc001rol.3	-	0		c.636C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		AGGTCCAGAGGGACCATCAAC	0.473000														38			15		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084910	53084910	+	Missense_Mutation	SNP	G	A	A	rs140839383		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:53084910G>A	uc003xqz.2	-	4	667	c.511C>T	c.(511-513)Cat>Tat	p.H171Y	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.H136Y|ST18_uc011lds.1_Missense_Mutation_p.H76Y|ST18_uc003xra.2_Missense_Mutation_p.H171Y|ST18_uc003xrb.2_Missense_Mutation_p.H171Y	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	171						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCATCAGAATGAATCAGAAAG	0.403000														55			31		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151878029	151878029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:151878029G>A	uc003wla.3	-	35	7135	c.6916C>T	c.(6916-6918)Cca>Tca	p.P2306S	MLL3_uc003wkz.3_Missense_Mutation_p.P1367S|MLL3_uc003wky.3_5'Flank	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2306					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGAGATCTTGGAGTCATTGGA	0.512000			N		medulloblastoma									67			31		0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138738312	138738312	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:138738312C>T	uc003vun.3	-	11	2722	c.2334G>A	c.(2332-2334)atG>atA	p.M778I		NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	778	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CTTCTTCCTTCATCTGCGATT	0.388000														98			30		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41000874	41000874	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41000874C>T	uc002ony.3	+	5	744	c.658C>T	c.(658-660)Cac>Tac	p.H220Y	SPTBN4_uc002onx.3_Missense_Mutation_p.H220Y|SPTBN4_uc002onz.3_Missense_Mutation_p.H220Y	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	220	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCCCTCATTCACCGGCACAG	0.572000														42			21		0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449884	91449884	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:91449884C>T	uc001tbl.3	-	1	794	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	59	LRRNT.				response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CCTCTATTTTCACAATATAAA	0.373000														79			31		0	0	1	0	0
PTGIR	5739	broad.mit.edu	37	19	47124812	47124812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:47124812G>A	uc002pex.3	-	2	999	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C		NM_000960	NP_000951	P43119	PI2R_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) receptor (IP) (PTGIR), mRNA.	296					G-protein signaling, coupled to cyclic nucleotide second messenger|cell-cell signaling|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	ACAGCCTTGCGGAAAAGGATG	0.637000														64			22		0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10176100	10176100	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:10176100C>T	uc004csy.4	+	8	1289	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	CLCN4_uc011mid.2_Missense_Mutation_p.P193S	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	287						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTACTACTTTCCCCTGAAGAC	0.498000														99			66		0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	36993269	36993269	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36993269C>T	uc002xic.1	+	7	819	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	262					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCCAGTTACCCTCCTTGCTGC	0.493000														145			61		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156811288	156811288	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156811288G>A	uc010pht.2	-	20	3859	c.3560C>T	c.(3559-3561)aCc>aTc	p.T1187I	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1187	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCTGCCAGGGTCACAATCTC	0.612000														58			29		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585475	82585475	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82585475C>T	uc003uhx.2	-	4	5083	c.4794G>A	c.(4792-4794)aaG>aaA	p.K1598K	PCLO_uc003uhv.2_Silent_p.K1598K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1529					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						TGCCTTTTCCCTTTGTTTCTT	0.433000														173			52		0	0	1	0	0
SLC2A2	6514	broad.mit.edu	37	3	170716065	170716065	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:170716065G>A	uc003fhe.1	-	9	1600	c.1291C>T	c.(1291-1293)Cca>Tca	p.P431S	SLC2A2_uc003fhf.1_Missense_Mutation_p.P258S|SLC2A2_uc011bpu.1_Missense_Mutation_p.P304S	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	431					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GCAGGACGTGGTCCTTGACTG	0.463000														75			24		0	0	1	0	0
ELMOD1	55531	broad.mit.edu	37	11	107506466	107506466	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:107506466C>T	uc010rvs.2	+	5	799	c.395C>T	c.(394-396)cCc>cTc	p.P132L	ELMOD1_uc001pjm.3_Missense_Mutation_p.P132L|ELMOD1_uc010rvt.2_Missense_Mutation_p.P126L	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	132					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TCTGATAATCCCCAACATGAA	0.458000														32			9		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104642395	104642395	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:104642395C>T	uc001yos.4	+	11	3270	c.3270C>T	c.(3268-3270)gcC>gcT	p.A1090A		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	1090					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTCTCAGGCCCCTGAGGGGG	0.672000														12			7		0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104032266	104032266	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104032266G>A	uc004bbb.3	+	2	567	c.168G>A	c.(166-168)atG>atA	p.M56I	LPPR1_uc011lvi.2_Missense_Mutation_p.M32I|LPPR1_uc004bbc.3_Missense_Mutation_p.M56I|LPPR1_uc010mtc.3_Missense_Mutation_p.M40I	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	56						integral to membrane	catalytic activity										GAGACTTAATGAAGCCTTACC	0.488000														43			12		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55224310	55224310	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55224310C>T	uc003tqk.3	+	8	1337	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F	EGFR_uc003tqh.3_Missense_Mutation_p.S364F|EGFR_uc003tqi.3_Missense_Mutation_p.S364F|EGFR_uc003tqj.3_Missense_Mutation_p.S364F|EGFR_uc022adm.1_Missense_Mutation_p.S364F|EGFR_uc010kzg.2_Missense_Mutation_p.S319F|EGFR_uc022adn.1_Missense_Mutation_p.S319F|EGFR_uc011kco.2_Missense_Mutation_p.S311F|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	364					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AACTGCACCTCCATCAGTGGC	0.413000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				83			17		0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74475819	74475819	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74475819G>A	uc002jrq.2	-	3	649	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	RHBDF2_uc021udh.1_Missense_Mutation_p.R90C|RHBDF2_uc002jrr.1_5'UTR|RHBDF2_uc010wtf.1_Missense_Mutation_p.R90C|RHBDF2_uc002jrs.1_Missense_Mutation_p.R90C	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA.	119					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	p.R119C(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCTCACTTGCGGATGCTCTGG	0.662000														21			6		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666517	50666517	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:50666517C>T	uc001csb.2	+	6	1078	c.810C>T	c.(808-810)ccC>ccT	p.P270P	ELAVL4_uc001cry.3_Intron|ELAVL4_uc001crz.3_Intron|ELAVL4_uc001csa.3_Intron|ELAVL4_uc001csc.3_Intron|ELAVL4_uc010omz.2_Intron	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	270			P -> S (in dbSNP:rs2494876).		mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CTGCTTGTCCCCCCAGGTTCT	0.522000														196			45		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166179783	166179783	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166179783G>A	uc002udc.3	+	11	2079	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	SCN2A_uc002udd.3_Missense_Mutation_p.E597K|SCN2A_uc002ude.3_Missense_Mutation_p.E597K	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	597					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGCTGATGATGAGCACAGCAC	0.547000														59			16		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940437	22940437	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22940437C>T	uc021urt.1	-	3	2429	c.2274G>A	c.(2272-2274)gaG>gaA	p.E758E		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGCAGGGTTTCTCTGCAGTAT	0.353000														86			6		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36888828	36888828	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36888828C>T	uc003cgj.3	-	14	5013	c.4765G>A	c.(4765-4767)Gaa>Aaa	p.E1589K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1589					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATCTTCCATTCCTTATAAGCC	0.443000														28			6		0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24995781	24995781	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24995781C>T	uc001bjm.3	+	13	2131	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	SRRM1_uc010oel.2_Missense_Mutation_p.S648F|SRRM1_uc009vrh.1_Missense_Mutation_p.S609F|SRRM1_uc009vri.1_Missense_Mutation_p.S565F	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	636	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CGGCGGGTCTCCCATTCTCCA	0.532000														112			43		0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568849	140568849	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140568849C>T	uc003liw.1	+	1	1955	c.1955C>T	c.(1954-1956)tCg>tTg	p.S652L		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	653	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCTCGCTCGGCCACCGCC	0.706000														141			28		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23874889	23874889	+	Missense_Mutation	SNP	C	T	T	rs140596256	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23874889C>T	uc001wjv.3	-	3	363	c.292G>A	c.(292-294)Gag>Aag	p.E98K	MYH6_uc010akp.2_Missense_Mutation_p.E98K	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	98	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			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)		ACCGCGGGCTCGTGCAGGAAG	0.592000														71			18		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42344686	42344686	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42344686C>T	uc002xlb.1	+	13	2277	c.2062C>T	c.(2062-2064)Ctg>Ttg	p.L688L	MYBL2_uc010zwj.1_Silent_p.L664L	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	688						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCTGGGCCGCCTGAAGCCCAG	0.627000														273			13		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335551	20335551	+	Missense_Mutation	SNP	G	A	A	rs140222432		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20335551G>A	uc002dgv.3	-	2	205	c.122C>T	c.(121-123)tCg>tTg	p.S41L	GP2_uc002dgw.3_Missense_Mutation_p.S41L|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	41						anchored to membrane|extracellular region|plasma membrane		p.S41L(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGCCCATACGAACTGGCTTC	0.532000														37			25		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98155083	98155083	+	Silent	SNP	C	T	T	rs151335014		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98155083C>T	uc001kml.2	-	12	1828	c.1587G>A	c.(1585-1587)acG>acA	p.T529T	TLL2_uc009xvf.2_Silent_p.T507T	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	529	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.T529T(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CACTCTCTTCCGTGGGGCCAT	0.527000														72			29		0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15571068	15571068	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15571068C>T	uc002nbe.2	-	6	693	c.607_splice	c.e6-1	p.G203_splice		NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	203	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CTTGAGCAACCCCTGTGGGGA	0.572000														13			5		0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75156789	75156789	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:75156789G>A	uc003yae.3	-	3	1920	c.1880C>T	c.(1879-1881)cCt>cTt	p.P627L	JPH1_uc003yaf.3_Missense_Mutation_p.P627L|JPH1_uc003yag.1_Missense_Mutation_p.P491L	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	627					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)			TTCCAAAGCAGGGCATGAATC	0.433000														169			30		0	0	1	0	0
TSPAN32	10077	broad.mit.edu	37	11	2334931	2334931	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:2334931G>A	uc001lvy.1	+	4	539	c.402G>A	c.(400-402)gcG>gcA	p.A134A	TSPAN32_uc001lvx.1_Silent_p.A193A|TSPAN32_uc009ydk.1_Silent_p.A144A|TSPAN32_uc010qxk.2_Silent_p.A169A|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Silent_p.A104A|TSPAN32_uc001lwb.1_Silent_p.A104A|TSPAN32_uc001lwc.1_Silent_p.A79A|TSPAN32_uc001lwd.1_5'Flank	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	Homo sapiens tetraspanin 32 (TSPAN32), mRNA.	134					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ATGAGCAGGCGATGAAAGGTA	0.662000														7			4		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222429004	222429004	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:222429004G>A	uc002vmq.3	-	2	312	c.270C>T	c.(268-270)acC>acT	p.T90T	EPHA4_uc002vmr.2_Silent_p.T90T|EPHA4_uc010zlm.1_Silent_p.T31T	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	90						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)		CCCCTTCTCGGGTGATCCAAT	0.468000														171			14		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117079486	117079486	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:117079486C>T	uc011mtp.2	-	2	293	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	KLHL13_uc004eqk.3_5'UTR|KLHL13_uc004eql.3_Missense_Mutation_p.E51K|KLHL13_uc011mtn.2_5'UTR|KLHL13_uc011mto.2_Missense_Mutation_p.E45K|KLHL13_uc011mtq.2_Missense_Mutation_p.E35K|KLHL13_uc004eqm.3_Missense_Mutation_p.E9K|KLHL13_uc022cde.1_Missense_Mutation_p.E35K	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	51					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGGCCCATTTCGCTGCCTCCA	0.433000														23			14		0	0	1	0	0
C3orf65	646600	broad.mit.edu	37	3	185434297	185434297	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:185434297G>A	uc003fpr.2	+	1	306	c.130G>A	c.(130-132)Gga>Aga	p.G44R	IGF2BP2_uc010hyi.3_Intron|IGF2BP2_uc010hyj.3_Intron|IGF2BP2_uc010hyk.3_Intron|IGF2BP2_uc010hyl.3_Intron|IGF2BP2_uc003fpo.3_Intron|IGF2BP2_uc003fpp.3_Intron|IGF2BP2_uc003fpq.3_Intron|C3orf65_uc003fps.4_Non-coding_Transcript					Homo sapiens chromosome 3 open reading frame 65 (C3orf65), non-coding RNA.													all_cancers(143;1.5e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CAGCTTTTGGGGAAGTGGGCT	0.458000														114			8		0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48695053	48695053	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:48695053G>A	uc001crn.2	+	4	553	c.501G>A	c.(499-501)aaG>aaA	p.K167K	SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Silent_p.K142K|SLC5A9_uc010omt.1_Silent_p.K156K|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	142						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						AGTATCTGAAGAAGCGATTTG	0.562000														81			10		0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62189529	62189529	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:62189529G>A	uc003dlb.3	+	11	2779	c.2060G>A	c.(2059-2061)gGg>gAg	p.G687E	PTPRG_uc003dlc.3_Missense_Mutation_p.G687E	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	687					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGTATGCAGGGAGTGATCCC	0.587000														58			22		0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51679045	51679045	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:51679045G>A	uc011bdt.2	+	15	2581	c.2456G>A	c.(2455-2457)gGa>gAa	p.G819E	RAD54L2_uc003dbh.3_Missense_Mutation_p.G408E|RAD54L2_uc011bdu.2_Missense_Mutation_p.G513E|RAD54L2_uc003dbj.3_Missense_Mutation_p.G145E	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	819	Helicase C-terminal.					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)		TAAAGGGCCGGATGCTTGGGT	0.468000														53			16		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24251645	24251645	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24251645G>A	uc003xdz.2	+	3	568	c.348G>A	c.(346-348)acG>acA	p.T116T	ADAMDEC1_uc010lub.2_Silent_p.T37T|ADAMDEC1_uc011lab.1_Silent_p.T37T	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	116					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AAATTACCACGAAACCTGAGA	0.458000														39			19		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22749636	22749636	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22749636C>T	uc021wml.1	+	56		c.6320C>T								Parts of antibodies, mostly variable regions.																		TGGTTACTATCCAAACTGGTT	0.557000														51			13		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150266998	150266998	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150266998C>T	uc003whl.3	+	1	91	c.9C>T	c.(7-9)gcC>gcT	p.A3A	GIMAP4_uc011kuu.2_5'UTR|GIMAP4_uc011kuv.2_Silent_p.A3A	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	3							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAATGGCAGCCCAATACGGCA	0.512000														58			17		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36759570	36759570	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36759570C>T	uc003cgi.2	-	3	2175	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	562	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TTAAAGAGCTCGTCCTGGTCC	0.552000														225			32		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670844	134670844	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:134670844G>A	uc003eqt.3	+	2	1130	c.755G>A	c.(754-756)cGa>cAa	p.R252Q	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	252	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.G251G(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCTATTGGGCGATGCACCTGC	0.577000														128			49		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204953222	204953222	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204953222G>A	uc010prc.2	+	20	2768	c.1239G>A	c.(1237-1239)tgG>tgA	p.W413*	NFASC_uc001hbj.3_Intron|NFASC_uc010pra.2_Nonsense_Mutation_p.W842*|NFASC_uc001hbi.3_Nonsense_Mutation_p.W842*|NFASC_uc010prb.2_Nonsense_Mutation_p.W857*|NFASC_uc001hbk.1_Nonsense_Mutation_p.W652*|NFASC_uc001hbl.2_Intron|NFASC_uc001hbm.2_5'Flank			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	846	Ig-like C2-type 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.S413N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCTTCAGTGGAACCGCGTCT	0.577000														53			10		0	0	1	0	0
RNF157	114804	broad.mit.edu	37	17	74208526	74208526	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74208526C>T	uc002jqz.3	-	1	195	c.126G>A	c.(124-126)gaG>gaA	p.E42E	RNF157_uc002jra.3_Silent_p.E42E	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	42							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			AGTCAAACTTCTCTCCTCCCA	0.403000														83			8		0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55279591	55279591	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55279591G>A	uc001cyb.4	+	6	921	c.867G>A	c.(865-867)ccG>ccA	p.P289P	C1orf177_uc001cya.4_Silent_p.P289P	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	289										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CCCGAAACCCGAAAACCCCTA	0.502000														122			38		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125025715	125025715	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:125025715G>A	uc003yqw.3	+	14	2072	c.1866G>A	c.(1864-1866)caG>caA	p.Q622Q	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	622						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGATTTCACAGGAGGCACCTG	0.483000														88			42		0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39092585	39092585	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39092585G>A	uc002hvm.1	-	1	860	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Missense_Mutation_p.R91C|KRT23_uc002hvn.1_Missense_Mutation_p.R91C	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	91	Coil 1A.|Rod.					intermediate filament	structural molecule activity	p.R91R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TCCAGGGCGCGAACCTTCTCC	0.557000														98			55		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152084368	152084368	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152084368C>T	uc009wne.1	-	2	1597	c.1325G>A	c.(1324-1326)aGg>aAg	p.R442K	TCHH_uc001ezp.2_Missense_Mutation_p.R442K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	442	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctgctcgcgcctctcctgctc	0.692000														89			22		0	0	1	0	0
C5orf54	63920	broad.mit.edu	37	5	159821494	159821494	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:159821494G>A	uc003lye.1	-	1	1468	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F	C5orf54_uc003lyf.1_Missense_Mutation_p.S335F|C5orf54_uc021yhc.1_Missense_Mutation_p.S335F	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	Homo sapiens chromosome 5 open reading frame 54 (C5orf54), mRNA.	335										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ttggcctcgggaaagccacct	0.363000														37			22		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215852476	215852476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:215852476G>A	uc002vew.3	-	26	4091	c.3871C>T	c.(3871-3873)Cct>Tct	p.P1291S	ABCA12_uc002vev.3_Missense_Mutation_p.P973S|ABCA12_uc010zjn.2_Missense_Mutation_p.P218S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1291					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAATAGGAAGGAAGAATTGGA	0.423000														33			6		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11364993	11364993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:11364993C>T	uc003jfa.1	-	7	1332	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	CTNND2_uc010itt.2_Missense_Mutation_p.R305Q|CTNND2_uc011cmy.1_Missense_Mutation_p.R59Q|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	396					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTATGAGGCTCGGGAACCAGC	0.488000														41			10		0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55733486	55733486	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:55733486G>A	uc021tio.1	+	10	1561	c.1510G>A	c.(1510-1512)Gac>Aac	p.D504N	SLC6A2_uc002eif.3_Missense_Mutation_p.D504N|SLC6A2_uc002eig.3_Missense_Mutation_p.D504N|SLC6A2_uc002eii.3_Missense_Mutation_p.D399N|SLC6A2_uc002eij.3_Missense_Mutation_p.D218N|SLC6A2_uc021tip.1_Non-coding_Transcript	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	504					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTTCAGCAACGACATCCAGCA	0.592000														49			5		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19195023	19195023	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19195023G>A	uc002dfw.3	+	4	836	c.505G>A	c.(505-507)Gac>Aac	p.D169N	SYT17_uc002dfx.3_Missense_Mutation_p.D108N|SYT17_uc002dfy.3_Missense_Mutation_p.D165N	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	169						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CTCCAACAGCGACGATGTGGA	0.562000														56			17		0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068442	5068442	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5068442C>T	uc010qyv.2	+	0	687	c.687C>T	c.(685-687)ctC>ctT	p.L229L		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TCTTCCGCCTCCCATCACATG	0.448000														143			72		0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56114291	56114291	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56114291G>A	uc010rjg.2	+	0	777	c.777G>A	c.(775-777)ggG>ggA	p.G259G		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y258S(1)|p.Y258Y(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGTTCTATGGGACATTGTTAT	0.408000										HNSCC(65;0.19)				90			12		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140926196	140926196	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140926196C>T	uc011mwp.2	+	0	95	c.95C>T	c.(94-96)tCc>tTc	p.S32F		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	32								p.L31V(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TATGCCTTATCCCCAGTGGTG	0.562000														38			60		0	0	1	0	0
HOXC8	3224	broad.mit.edu	37	12	54405148	54405148	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54405148G>A	uc001ser.3	+	1	891	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K		NM_022658	NP_073149	P31273	HXC8_HUMAN	Homo sapiens homeobox C8 (HOXC8), mRNA.	238						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						ggaggaaaaggaagaAAACAA	0.448000														57			20		0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69376695	69376695	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:69376695G>A	uc001xkl.3	-	4	802	c.492C>T	c.(490-492)gtC>gtT	p.V164V	ACTN1_uc010ttb.2_Silent_p.V99V|ACTN1_uc001xkm.3_Silent_p.V164V|ACTN1_uc001xkn.3_Silent_p.V164V|ACTN1_uc001xko.1_Silent_p.V99V|ACTN1_uc010ttd.1_Silent_p.V143V	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	164	Actin-binding.|CH 2.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCTGGATGTTGACATTTTTGT	0.592000														71			30		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075049	106075049	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106075049C>T	uc001kyf.3	-	2	1214	c.761G>A	c.(760-762)aGc>aAc	p.S254N	ITPRIP_uc001kye.3_Missense_Mutation_p.S254N|ITPRIP_uc001kyg.3_Missense_Mutation_p.S254N|ITPRIP_uc021pxv.1_Missense_Mutation_p.S254N	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	254						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCAGATGCAGCTCAATGTGTC	0.652000														41			17		0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891955	30891955	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:30891955C>T	uc003aid.2	-	2	234	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	SEC14L4_uc011akz.1_Missense_Mutation_p.R45Q|SEC14L4_uc003aie.2_Missense_Mutation_p.E14K|SEC14L4_uc003aif.2_5'UTR	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	45						integral to membrane|intracellular	lipid binding|transporter activity	p.R45R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GTCAAAGTTTCGAGCTGCAAG	0.502000														21			5		0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617754	111617754	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:111617754G>A	uc004bdi.3	-	0	522	c.457C>T	c.(457-459)Ccg>Tcg	p.P153S		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	153						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			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						GGGCTGAGCGGAGGGTCGGAG	0.622000														42			9		0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97377690	97377690	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:97377690G>A	uc002swv.3	-	5	649	c.613C>T	c.(613-615)Cct>Tct	p.P205S	LMAN2L_uc002swu.3_Missense_Mutation_p.P194S|LMAN2L_uc010yuu.2_Missense_Mutation_p.P58S|LMAN2L_uc010yut.2_Missense_Mutation_p.P60S|LMAN2L_uc010yuv.2_Missense_Mutation_p.P47S|LMAN2L_uc010yuw.2_Missense_Mutation_p.P49S|LMAN2L_uc010yux.2_Missense_Mutation_p.P49S	NM_001142292	NP_001135764	Q9H0V9	LMA2L_HUMAN	Homo sapiens lectin, mannose-binding 2-like (LMAN2L), transcript variant 1, mRNA.	194	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	ER to Golgi transport vesicle|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						AGCTCTGTAGGCCGCCCATCC	0.557000														49			23		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36223190	36223190	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36223190C>T	uc021usv.1	+	27	5740	c.5740C>T	c.(5740-5742)Cgt>Tgt	p.R1914C	MLL2_uc021usu.1_Missense_Mutation_p.R728C	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	526					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CAGACGTTCCCGTCGTCCCAG	0.642000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				13			7		0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25260919	25260919	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:25260919G>A	uc001rgh.3	+	20	2519	c.1425G>A	c.(1423-1425)gaG>gaA	p.E475E	LRMP_uc010sja.2_Silent_p.E475E|LRMP_uc010sjc.2_Silent_p.E475E|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Silent_p.E422E|LRMP_uc010sjd.2_Silent_p.E422E	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	531					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)					CACAGCAAGAGGACTCATGGA	0.483000														100			27		0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98850360	98850360	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:98850360G>A	uc009ztm.2	-	0	564	c.375C>T	c.(373-375)ttC>ttT	p.F125F						Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1 (SLC9A7P1), non-coding RNA.																		CCTATGGGTCGAATGTTACCT	0.413000														22			8		0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48191778	48191778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48191778C>T	uc002iqf.3	-	7	1148	c.849G>A	c.(847-849)gaG>gaA	p.E283E	SAMD14_uc002iqe.3_Intron|SAMD14_uc002iqg.3_Intron	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA.	274										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						TGCTCAGTGCCTCCTGTGCAT	0.577000														52			11		0	0	1	0	0
BFAR	51283	broad.mit.edu	37	16	14738443	14738443	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:14738443C>T	uc002dco.3	+	1	521	c.240C>T	c.(238-240)ttC>ttT	p.F80F	BFAR_uc010uzh.2_Missense_Mutation_p.P21S	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.	80					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						GGGAAGGTTTCCCCAAAGTCA	0.408000														108			39		0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59190271	59190271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59190271C>T	uc010rkt.2	-	0	156	c.156G>A	c.(154-156)atG>atA	p.M52I		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GGTGAGAGTCCATCTTAATGA	0.488000														82			11		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28992873	28992873	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28992873C>T	uc002kwr.2	+	14	2630	c.2495C>T	c.(2494-2496)tCt>tTt	p.S832F	DSG4_uc002kwq.2_Missense_Mutation_p.S813F	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	813					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGAGTCGGGTCTCCCGTAGGC	0.428000														87			30		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15580492	15580492	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15580492G>A	uc002nbg.3	-	3	1725	c.1592C>T	c.(1591-1593)cCc>cTc	p.P531L	PGLYRP2_uc002nbf.4_Missense_Mutation_p.P531L	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	531					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CGCGTCGCCGGGGCAGTCGGT	0.726000														12			5		0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34356394	34356394	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34356394C>T	uc001zhk.1	+	2	2146	c.1476C>T	c.(1474-1476)ccC>ccT	p.P492P	CHRM5_uc001zhl.1_Silent_p.P492P|CHRM5_uc021sir.1_Silent_p.P492P	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	492					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CTGTCAACCCCATCTGCTATG	0.478000														74			23		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537447	55537447	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55537447G>A	uc003xsd.1	+	3	1153	c.1005G>A	c.(1003-1005)atG>atA	p.M335I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	335					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.M335I(2)|p.M335L(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGTTGAGATGAAAGTTCGAT	0.313000														35			19		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99827651	99827651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:99827651G>A	uc001pga.3	+	7	1291	c.787G>A	c.(787-789)Gat>Aat	p.D263N	CNTN5_uc009ywv.2_Missense_Mutation_p.D263N|CNTN5_uc001pfz.3_Missense_Mutation_p.D263N|CNTN5_uc021qpb.1_Missense_Mutation_p.D263N|CNTN5_uc021qpc.1_Missense_Mutation_p.D189N	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	263	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCAAACATCAGATGTTGGCAG	0.463000														33			19		0	0	1	0	0
IFNA2	3440	broad.mit.edu	37	9	21384900	21384900	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21384900C>T	uc003zpb.3	-	0	497	c.429G>A	c.(427-429)agG>agA	p.R143R		NM_000605	NP_000596	P01563	IFNA2_HUMAN	Homo sapiens interferon, alpha 2 (IFNA2), mRNA.	143					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.R143G(1)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GGAAGTATTTCCTCACAGCCA	0.478000														213			103		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440346	40440346	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:40440346C>T	uc003gvc.2	-	3	1275	c.565G>A	c.(565-567)Gac>Aac	p.D189N	RBM47_uc003gvd.2_Missense_Mutation_p.D189N|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.D151N|RBM47_uc003gvg.1_Missense_Mutation_p.D189N	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	189	RRM 2.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TTCATCTTGTCGGCCGCGCTG	0.647000														70			41		0	0	1	0	0
RNF186	54546	broad.mit.edu	37	1	20141286	20141286	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:20141286C>T	uc001bcr.3	-	0	486	c.309G>A	c.(307-309)gaG>gaA	p.E103E		NM_019062	NP_061935	Q9NXI6	RN186_HUMAN	Homo sapiens ring finger protein 186 (RNF186), mRNA.	103						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCACCGCCTCATGGTCGC	0.672000														71			15		0	0	1	0	0
AREG	374	broad.mit.edu	37	4	75312457	75312457	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:75312457G>A	uc021xpc.1	+	1	478	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K		NM_001657	NP_001648	P15514	AREG_HUMAN	Homo sapiens amphiregulin (AREG), mRNA.	90					G-protein coupled receptor protein signaling pathway|cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			GTATGATAACGAACCACAAAT	0.448000														80			35		0	0	1	0	0
MRPL14	64928	broad.mit.edu	37	6	44081883	44081883	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:44081883G>A	uc003owp.3	-	2	264	c.135C>T	c.(133-135)gcC>gcT	p.A45A		NM_032111	NP_115487	Q6P1L8	RM14_HUMAN	Homo sapiens mitochondrial ribosomal protein L14 (MRPL14), nuclear gene encoding mitochondrial protein, mRNA.	45					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			TGTTCCCCAGGGCACTGTTGT	0.542000														301			29		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207176205	207176205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:207176205G>A	uc002vbp.2	+	4	7203	c.6953G>A	c.(6952-6954)gGt>gAt	p.G2318D		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2318							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CGACAGAAAGGTCCTTCTACA	0.483000														16			17		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192700856	192700856	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:192700856C>T	uc002utb.3	-	1	1426	c.1071G>A	c.(1069-1071)gaG>gaA	p.E357E		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	357						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	AGGTCGCCTTCTCAGCAGCCT	0.572000														165			13		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467808	74467808	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74467808G>A	uc002axg.1	+	1	891	c.609G>A	c.(607-609)ccG>ccA	p.P203P	ISLR_uc002axh.1_Silent_p.P203P|ISLR_uc021sqf.1_Silent_p.P203P	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	203	LRRCT.				cell adhesion	extracellular region		p.I202T(1)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGTCCATCCCGGAGCAGGACA	0.662000														49			14		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171178038	171178038	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171178038C>T	uc001ghk.1	+	8	1479	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	FMO2_uc010pmd.1_Silent_p.F234F	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	454					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCTCTTGTTCAAAGATCCTA	0.502000														205			102		0	0	1	0	0
MBOAT7	79143	broad.mit.edu	37	19	54687453	54687454	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54687453_54687454GG>AA	uc002qdq.3	-	5	709_710	c.443_444CC>TT	c.(442-444)tcc>tTT	p.S148F	MBOAT7_uc010erg.3_5'UTR|MBOAT7_uc010yem.2_Missense_Mutation_p.S130F|MBOAT7_uc002qdr.3_Missense_Mutation_p.S148F|MBOAT7_uc002qds.3_Missense_Mutation_p.S75F|MBOAT7_uc010yen.2_Missense_Mutation_p.S75F|MBOAT7_uc002qdt.4_Missense_Mutation_p.S148F	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA.	148					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCTCCATCAGGGAGGGCACGTC	0.614000														78			7		0	0	1	0	0
C3orf67	200844	broad.mit.edu	37	3	58849567	58849567	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58849567C>T	uc003dkt.1	-	11	1344	c.935G>A	c.(934-936)aGc>aAc	p.S312N	C3orf67_uc003dks.1_Missense_Mutation_p.S127N|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.S127N|C3orf67_uc003dkw.3_Missense_Mutation_p.S207N	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	312										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		AGACTGTCTGCTGGATGCCAG	0.453000														58			16		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155537	22155537	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22155537G>A	uc021urr.1	-	3	2448	c.2299C>T	c.(2299-2301)Cat>Tat	p.H767Y	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)				ATTTTCTTATGATAACTAAGG	0.358000														43			30		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11215925	11215925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11215925C>T	uc002mqk.4	+	3	530	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	LDLR_uc010xlk.2_Missense_Mutation_p.R115C|LDLR_uc010xll.2_Missense_Mutation_p.R74C|LDLR_uc021upc.1_Intron|LDLR_uc010xln.2_Intron|LDLR_uc010xlo.2_Intron|LDLR_uc010xlm.2_Intron|LDLR_uc021upd.1_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	115	LDL-receptor class A 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.?(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)	GGACGAGTTTCGCTGCCACGA	0.622000														147			66		0	0	1	0	0
AMDHD1	144193	broad.mit.edu	37	12	96354255	96354255	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:96354255G>A	uc001tel.2	+	4	773	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	AMDHD1_uc009zth.2_Missense_Mutation_p.E114K	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	223					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CAGAAATGGGGAAATACACGT	0.418000														83			9		0	0	1	0	0
LIMS1	3987	broad.mit.edu	37	2	109276206	109276206	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:109276206G>T	uc002teg.3	+	1	271	c.142G>T	c.(142-144)Gga>Tga	p.G48*	LIMS1_uc002tel.3_Nonsense_Mutation_p.G60*|LIMS1_uc002teh.3_Nonsense_Mutation_p.G48*|LIMS1_uc002tei.3_Nonsense_Mutation_p.G52*|LIMS1_uc002tej.3_Nonsense_Mutation_p.G85*|LIMS1_uc002tek.4_Nonsense_Mutation_p.G110*	NM_004987	NP_004978	P48059	LIMS1_HUMAN	Homo sapiens LIM and senescent cell antigen-like domains 1 (LIMS1), transcript variant 2, mRNA.	48	LIM zinc-binding 1.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						GTTCCCAGAAGGACTCTTCTA	0.577000														92			23		5.35356e-11	5.37363e-11	1	1	0
LAMA1	284217	broad.mit.edu	37	18	7050889	7050889	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:7050889C>T	uc002knm.3	-	3	486	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	LAMA1_uc010wzj.2_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	131	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTTCCAGGTCGAGGGGCATT	0.463000														40			17		0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4199219	4199219	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:4199219G>A	uc003ghp.1	-	4	1372	c.1342C>T	c.(1342-1344)Cac>Tac	p.H448Y		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	448					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCTCTCGGTGAATGGATTCA	0.547000														96			22		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140752118	140752118	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140752118C>T	uc003ljw.2	+	0	2157	c.2157C>T	c.(2155-2157)tcC>tcT	p.S719S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.S719S|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	732					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)			GATGCTCCTCCAGACCCGCCA	0.557000														56			17		0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234553868	234553868	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:234553868G>A	uc001hwd.3	-	21	3667	c.3667C>T	c.(3667-3669)Cct>Tct	p.P1223S		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1223					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AGAAATTGAGGGAATTTATGA	0.284000														26			7		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174260	51174260	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:51174260C>T	uc021tif.1	-	1	1904	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	SALL1_uc021tid.1_Missense_Mutation_p.E528K|SALL1_uc021tie.1_Missense_Mutation_p.E625K|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	625					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCACTCTCTTCGCTTTTGCCA	0.642000														49			11		0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153497395	153497395	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:153497395G>A	uc002tye.3	+	24	3503	c.3136G>A	c.(3136-3138)Gga>Aga	p.G1046R	FMNL2_uc010fob.3_Missense_Mutation_p.G502R|FMNL2_uc002tyf.3_Missense_Mutation_p.G495R	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	1046	DAD.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TGTATATGAGGGAAAAGATGG	0.413000														42			12		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108124267	108124267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108124267G>A	uc003dxa.1	-	33	4771	c.4714C>T	c.(4714-4716)Cat>Tat	p.H1572Y		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1572						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						AGCTGGAAATGAAGAATCTTG	0.318000														42			8		0	0	1	0	0
PROK2	60675	broad.mit.edu	37	3	71821914	71821914	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:71821914C>T	uc003dpa.4	-	3	505	c.351G>A	c.(349-351)cgG>cgA	p.R117R	PROK2_uc003doz.4_Silent_p.R96R	NM_001126128	NP_001119600	Q9HC23	PROK2_HUMAN	Homo sapiens prokineticin 2 (PROK2), transcript variant 1, mRNA.	117					activation of MAPK activity|angiogenesis|anti-apoptosis|cell proliferation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|neuropeptide signaling pathway|positive regulation of smooth muscle contraction|sensory perception of pain|spermatogenesis	extracellular region	G-protein-coupled receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)		TAAATGAAGTCCGTAAACAGG	0.418000														82			28		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214813331	214813331	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:214813331C>T	uc001hkm.3	+	11	1824	c.1650C>T	c.(1648-1650)tcC>tcT	p.S550S		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	550					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGAAAACTCCTTGACTTTAG	0.343000														169			75		0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56435862	56435862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:56435862C>T	uc003xsf.3	+	2	1061	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	343						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGCTTCCCTCGTGTCCCTGG	0.572000														16			12		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101815074	101815074	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:101815074G>A	uc001pgm.3	+	2	597	c.327G>A	c.(325-327)caG>caA	p.Q109Q	KIAA1377_uc001pgn.3_Silent_p.Q65Q|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	109							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAAGAAAACAGAAGTTTGAAG	0.358000														58			24		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65234028	65234028	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:65234028C>T	uc001xht.3	-	29	6313	c.6262G>A	c.(6262-6264)Gag>Aag	p.E2088K	SPTB_uc001xhr.3_Missense_Mutation_p.E2088K|SPTB_uc001xhs.3_Missense_Mutation_p.E2088K|SPTB_uc001xhu.3_Missense_Mutation_p.E2088K|SPTB_uc010aqi.3_Missense_Mutation_p.E749K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	2088					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CACCCAGTCTCCTCTGCGGGT	0.577000														246			59		0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378100	19378100	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:19378100G>T	uc010tkp.2	+	0	507	c.507G>T	c.(505-507)ctG>ctT	p.L169L		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGATTTCTGTGGTTCCTGA	0.488000														146			28		8.73648e-17	8.78011e-17	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140189125	140189125	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140189125C>T	uc003lhi.2	+	0	2454	c.2353C>T	c.(2353-2355)Cag>Tag	p.Q785*	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Nonsense_Mutation_p.Q785*|PCDHAC2_uc011daa.2_Nonsense_Mutation_p.Q785*	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	835					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)			CAGAGAAGATCAGCTGCAGAC	0.468000														170			16		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14819293	14819293	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:14819293C>T	uc003zlm.3	-	14	3301	c.2485G>A	c.(2485-2487)Gga>Aga	p.G829R	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	829					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGAGGAAATCCATTCAGCTCC	0.433000														43			6		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69445293	69445293	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:69445293C>T	uc010lyz.3	+	6	1305	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	C8orf34_uc010lyy.2_Silent_p.L338L|C8orf34_uc003xyb.3_Silent_p.L227L	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	252					signal transduction		cAMP-dependent protein kinase regulator activity	p.T337A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCGCAATGCTCTCTCAAGATT	0.373000														118			45		0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76811167	76811167	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:76811167G>A	uc003hix.3	-	4	717	c.360C>T	c.(358-360)tcC>tcT	p.S120S	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Silent_p.S120S	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	120			S -> R.		detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGAGTGGGAAGGAGAGGCGTG	0.522000														145			53		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101748315	101748315	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:101748315C>T	uc004azb.1	+	2	775	c.569C>T	c.(568-570)tCc>tTc	p.S190F		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	190	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCCAGCGGTCCTCCCAGGCT	0.567000														49			24		0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790279	248790279	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248790279G>A	uc001ier.1	-	0	151	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			GTGTGGAGGCGAGAGTCCACC	0.498000														78			25		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21876619	21876620	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21876619_21876620GG>AA	uc001war.2	-	11	2646_2647	c.2581_2582CC>TT	c.(2581-2583)ccc>TTc	p.P861F	CHD8_uc001was.2_Missense_Mutation_p.P582F|CHD8_uc001wav.1_Missense_Mutation_p.P24F	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	861	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GACCAAGAAGGGACCATGGATG	0.470000														77			12		0	0	1	0	0
GTF2F1	2962	broad.mit.edu	37	19	6381394	6381394	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6381394G>A	uc002meq.2	-	8	1279	c.994C>T	c.(994-996)Ccg>Tcg	p.P332S	GTF2F1_uc010xjb.1_Missense_Mutation_p.P153S|GTF2F1_uc010xjc.1_Missense_Mutation_p.P247S	NM_002096	NP_002087	P35269	T2FA_HUMAN	Homo sapiens general transcription factor IIF, polypeptide 1, 74kDa (GTF2F1), mRNA.	332	Glu-rich.				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	DNA binding|catalytic activity|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						TTCTCCTGCGGGGTGGGTGcc	0.652000														22			5		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049251	42049251	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:42049251G>A	uc001cgz.4	-	3	2431	c.1218C>T	c.(1216-1218)ccC>ccT	p.P406P	HIVEP3_uc001cha.4_Silent_p.P406P|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	406	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGTGTTTGGGGGGCTGACCT	0.592000														99			17		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087437	92087437	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92087437G>A	uc001pdj.4	+	0	2176	c.2159G>A	c.(2158-2160)aGa>aAa	p.R720K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	720					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R720I(2)|p.A720T(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCAATTAATAGACAGGGACCA	0.403000										TCGA Ovarian(4;0.039)				183			63		0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179255882	179255882	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179255882G>A	uc002uly.3	+	22	3003	c.2459G>A	c.(2458-2460)gGa>gAa	p.G820E	MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.G795E|OSBPL6_uc010zfe.2_Missense_Mutation_p.G764E|OSBPL6_uc002ulz.3_Missense_Mutation_p.G759E|OSBPL6_uc002uma.3_Missense_Mutation_p.G799E	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	795					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CGGCTGTTTGGAAAGTGGCAT	0.527000														117			41		0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67219300	67219300	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67219300C>T	uc001olm.3	-	0	901	c.896G>A	c.(895-897)aGt>aAt	p.S299N	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	299						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GAGGTCGGCACTGGCCATGAG	0.657000														78			11		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419919	130419919	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:130419919C>T	uc004ewe.4	-	3	484	c.201G>A	c.(199-201)aaG>aaA	p.K67K	IGSF1_uc004ewd.3_Silent_p.K67K|IGSF1_uc022cdv.1_Silent_p.K58K|IGSF1_uc004ewf.2_Silent_p.K47K|IGSF1_uc022cdw.1_Silent_p.K67K|IGSF1_uc004ewg.3_Silent_p.K67K	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	67	Ig-like C2-type 1.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCAGCAGGAACTTGCTTGATA	0.527000														55			48		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207760774	207760774	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207760774G>A	uc001hfy.3	+	25	4364	c.4224G>A	c.(4222-4224)acG>acA	p.T1408T	CR1_uc009xcl.1_Silent_p.T958T|CR1_uc001hfx.3_Silent_p.T1858T|CR1_uc021pij.1_Silent_p.T1408T	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1408	Sushi 22.		T -> I.|T -> M (in dbSNP:rs3737002).		complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCAGTCCTACGATCCCAATTA	0.438000														56			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474571	179474571	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179474571C>T	uc021vsy.1	-	220	44100	c.43875G>A	c.(43873-43875)agG>agA	p.R14625R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.R8320R|TTN_uc021vta.1_Silent_p.R8253R|TTN_uc021vtb.1_Silent_p.R8128R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15552	Ig-like 96.						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)			ATCTCTTCCACCTTTCTTCAC	0.468000														416			157		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21211172	21211172	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21211172C>T	uc010bwn.1	-	14	1894	c.1812G>A	c.(1810-1812)caG>caA	p.Q604Q	ZP2_uc002dii.2_Silent_p.Q574Q	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	574	ZP.				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)		GGAAGGTGGTCTGGTAGTTGT	0.493000														66			15		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61761051	61761051	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:61761051C>T	uc002eog.2	-	8	2438	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	CDH8_uc002eoh.3_Missense_Mutation_p.E264K	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	495	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GATGCGAATTCAGGGGCGTTG	0.393000														137			60		0	0	1	0	0
FAM86B1	85002	broad.mit.edu	37	8	12042898	12042898	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:12042898G>A	uc010lse.3	-	5	822	c.777C>T	c.(775-777)ttC>ttT	p.F259F	LOC100506990_uc011kxp.1_Intron|FAM86B1_uc003wvf.4_Non-coding_Transcript|FAM86B1_uc010lsd.3_Non-coding_Transcript|FAM86B1_uc003wvh.4_Silent_p.F102F|FAM86B1_uc003wvi.4_Silent_p.F65F|FAM86B1_uc010lsf.3_Silent_p.F102F|FAM86B1_uc010lsg.3_Non-coding_Transcript|FAM86B1_uc003wvl.4_Non-coding_Transcript|FAM86B1_uc011kxq.2_Silent_p.F65F	NM_001083537	NP_001077006	Q8N7N1	F86B1_HUMAN	Homo sapiens family with sequence similarity 86, member B1 (FAM86B1), transcript variant 1, mRNA.	259										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		GCTCGGTGGTGAACAGCTGGC	0.662000														23			9		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58118625	58118625	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58118625C>T	uc003djj.2	+	25	4646	c.4481C>T	c.(4480-4482)tCa>tTa	p.S1494L	FLNB_uc010hne.2_Missense_Mutation_p.S1525L|FLNB_uc003djk.2_Missense_Mutation_p.S1494L|FLNB_uc010hnf.2_Missense_Mutation_p.S1494L|FLNB_uc003djl.2_Missense_Mutation_p.S1325L|FLNB_uc003djm.2_Missense_Mutation_p.S1325L	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1494	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TACATGGTCTCAGTTAAATAT	0.512000														22			12		0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61291963	61291963	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:61291963G>A	uc001nrv.3	-	5	716	c.664C>T	c.(664-666)Caa>Taa	p.Q222*	SYT7_uc009ynr.3_Nonsense_Mutation_p.Q297*	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	222	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCCAGGACTTGGAGGTAGAGG	0.587000														58			6		0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44640922	44640922	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44640922G>A	uc002xqz.3	+	6	1163	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	382	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.S381R(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CTTTGACAGCGACAAGAAGTG	0.667000														83			36		0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112194227	112194227	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:112194227G>A	uc009zvx.3	+	21	3423	c.3223G>A	c.(3223-3225)Gag>Aag	p.E1075K	ACAD10_uc001tsq.3_Missense_Mutation_p.E1044K|ACAD10_uc001tss.1_Intron	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	1044							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						CGGCCCTGACGAGGTGCACCG	0.647000														11			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179535006	179535006	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179535006C>T	uc021vsy.1	-	151	31647	c.31422G>A	c.(31420-31422)aaG>aaA	p.K10474K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K7135K|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11401	Glu-rich.|Pro-rich.						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)			CCACAATTTTCTTAGGCACCT	0.313000														14			5		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94158125	94158125	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94158125C>T	uc001ybv.1	+	44	7038	c.6955C>T	c.(6955-6957)Cac>Tac	p.H2319Y	UNC79_uc001ybs.1_Missense_Mutation_p.H2297Y	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2474						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						CTCCCTCTTCCACGCGTTCAT	0.532000														84			30		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43230915	43230915	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43230915G>A	uc003ouq.1	+	12	2092	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	TTBK1_uc011dvg.1_Missense_Mutation_p.E128K	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	605						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGCGCTGGCGGAGGAGGACCT	0.756000														7			3		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48965474	48965474	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48965474G>A	uc010kyv.1	+	0	1318	c.1206G>A	c.(1204-1206)cgG>cgA	p.R402R						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		ATAGAAGTCGGGCCCTGAAAA	0.458000														29			6		0	0	1	0	0
OVOL1	5017	broad.mit.edu	37	11	65562597	65562597	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65562597C>T	uc001ofp.3	+	3	929	c.589C>T	c.(589-591)Cat>Tat	p.H197Y	OVOL1_uc001ofq.3_Missense_Mutation_p.H135Y	NM_004561	NP_004552	O14753	OVOL1_HUMAN	Homo sapiens ovo-like 1(Drosophila) (OVOL1), mRNA.	197					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		CAAGAAGATCCATGGTGTGCA	0.627000														57			13		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4409622	4409622	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4409622C>T	uc002mal.3	+	2	926	c.826C>T	c.(826-828)Ccc>Tcc	p.P276S		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	276	Binds to CBX1 chromo shadow domain.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAATCTTTCCCCGAAGAAGA	0.592000								Chromatin Structure						51			20		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450471	85450471	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:85450471G>A	uc001tac.3	+	7	2011	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	LRRIQ1_uc021rbo.1_Missense_Mutation_p.E512K|LRRIQ1_uc001taa.1_Missense_Mutation_p.E609K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	634										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACAAGAAAAAGAAATTTATTC	0.294000														30			8		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142505555	142505555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:142505555C>T	uc003ywi.2	-	2	372	c.291G>A	c.(289-291)atG>atA	p.M97I	FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	97							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGCACTGTTCATGTCCTGCA	0.532000														41			18		0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17660315	17660315	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17660315C>T	uc021uqj.1	+	14	1960	c.1822C>T	c.(1822-1824)Cca>Tca	p.P608S	FAM129C_uc021uqi.1_Missense_Mutation_p.P608S|FAM129C_uc002ngy.4_Missense_Mutation_p.P334S|FAM129C_uc010xpu.2_Intron|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_Missense_Mutation_p.P298S	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	608										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CTTGGAGGTCCCATGGGAACA	0.552000														108			32		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189849638	189849638	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189849638G>A	uc002uqj.1	+	1	349	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	78	VWFC.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCCCAACCCAGAAATTCCATT	0.418000														65			16		0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42459061	42459061	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42459061G>A	uc001zpd.3	-	14	1612	c.1461C>T	c.(1459-1461)tgC>tgT	p.C487C	VPS39_uc001zpc.3_Silent_p.C476C|VPS39_uc001zpb.3_5'Flank	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	487					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CCTCGATGTGGCAGTGATTGT	0.552000														104			47		0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19547601	19547602	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19547601_19547602CC>TT	uc002dgl.4	+	3	857_858	c.610_611CC>TT	c.(610-612)ccc>TTc	p.P204F	CCP110_uc002dgk.4_Missense_Mutation_p.P204F	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	204	CEP97 binding.				G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TTCTGATGGTCCCTTCTCAGTA	0.391000														111			57		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126153184	126153184	+	Missense_Mutation	SNP	G	A	A	rs141942694	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:126153184G>A	uc010hsg.1	+	13	1650	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K	CCDC37_uc003eiu.1_Missense_Mutation_p.E530K	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	530										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GGTCAAGATCGAGCAGGCCGA	0.637000														53			14		0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123984630	123984630	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:123984630G>A	uc003ktq.1	-	3	1630	c.1447C>T	c.(1447-1449)Cca>Tca	p.P483S	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.P483S|ZNF608_uc003ktt.1_Missense_Mutation_p.P483S	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	483						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCACAATTTGGGGGTGTCCTT	0.562000														95			29		0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31477646	31477646	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31477646C>T	uc010vfn.2	+	7	2653	c.2529C>T	c.(2527-2529)ccC>ccT	p.P843P	ARMC5_uc010vfo.2_Silent_p.P780P|ARMC5_uc002ecc.3_Silent_p.P748P|ARMC5_uc002eca.4_3'UTR|ARMC5_uc002ecb.2_3'UTR|ARMC5_uc010vfp.2_Silent_p.P556P	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	748							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCCCAGCTCCCGACCTGCACT	0.667000														27			11		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68984806	68984806	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:68984806G>A	uc003xxv.1	+	14	1596	c.1569_splice	c.e14+1	p.Q523_splice	PREX2_uc003xxu.1_Splice_Site_p.Q523_splice|PREX2_uc011lez.1_Splice_Site_p.Q458_splice	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	523	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AATTGCACAGGTAAATAGACA	0.348000														114			11		0	0	1	0	0
PRPF31	26121	broad.mit.edu	37	19	54625919	54625919	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54625919C>T	uc002qdh.2	+	4	762	c.366C>T	c.(364-366)ttC>ttT	p.F122F	PRPF31_uc010yek.1_Silent_p.F122F|PRPF31_uc021vbi.1_Silent_p.F122F	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	122					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP|nuclear speck	RNA binding|snRNP binding	p.R121R(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAAAGAGATTCCCTGAACTGG	0.537000														95			144		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164095	26164095	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26164095C>T	uc003abz.1	+	3	462	c.212C>T	c.(211-213)tCc>tTc	p.S71F	MYO18B_uc003aca.1_5'UTR|MYO18B_uc010guy.1_5'UTR|MYO18B_uc010guz.1_5'UTR|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	71	Ser-rich.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						CCAGAAATTTCCATCAGCCAA	0.498000														139			42		0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52952628	52952628	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:52952628C>T	uc001vgo.3	-	4	2022	c.1477G>A	c.(1477-1479)Ggc>Agc	p.G493S	THSD1_uc001vgp.3_Missense_Mutation_p.G440S|THSD1_uc010tgz.2_Missense_Mutation_p.G114S	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	493						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		AGAGGGATGCCTGTGTCCCCT	0.647000														69			21		0	0	1	0	0
MNS1	55329	broad.mit.edu	37	15	56726525	56726525	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:56726525C>T	uc002adr.2	-	7	1245	c.1080G>A	c.(1078-1080)ttG>ttA	p.L360L	MNS1_uc010bfo.2_Silent_p.L228L|TEX9_uc002adp.3_Intron|TEX9_uc010ugl.2_Intron	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN	Homo sapiens meiosis-specific nuclear structural 1 (MNS1), mRNA.	360	Glu-rich.				meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CTAATTCCTTCAAGGCCATTT	0.338000														83			24		0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28508889	28508889	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:28508889G>A	uc002dqb.2	+	1	2560	c.2527G>A	c.(2527-2529)Gcc>Acc	p.A843T	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.A372T	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	834	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCGGGTAGAGGCCGAGGAATC	0.662000														10			4		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31896655	31896655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31896655G>A	uc003nyf.3	+	2	667	c.403G>A	c.(403-405)Ggc>Agc	p.G135S	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.G135S|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Missense_Mutation_p.G106S|CFB_uc011dor.2_Intron	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	149	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCGCCCCAACGGCATGTGGGA	0.622000														49			22		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40078519	40078519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:40078519G>A	uc003ayc.3	+	34	5683	c.5683G>A	c.(5683-5685)Gag>Aag	p.E1895K	CACNA1I_uc003ayd.3_Missense_Mutation_p.E1860K|CACNA1I_uc003aye.3_Missense_Mutation_p.E1810K|CACNA1I_uc003ayf.3_Missense_Mutation_p.E1775K	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1895					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGACCCACCTGAGCCCATGCG	0.607000														96			47		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138522699	138522699	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:138522699G>A	uc011kql.2	-	19	5854	c.5805C>T	c.(5803-5805)ctC>ctT	p.L1935L	KIAA1549_uc011kqi.2_Silent_p.L703L|KIAA1549_uc011kqk.2_Silent_p.L719L|KIAA1549_uc011kqj.2_Silent_p.L1919L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1935						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGAGCCGGAGGAGCTCCTCGC	0.617000			O	BRAF	pilocytic astrocytoma									35			13		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209788748	209788748	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:209788748C>T	uc001hhg.3	-	21	3777	c.3387G>A	c.(3385-3387)atG>atA	p.M1129I	LAMB3_uc009xco.3_Missense_Mutation_p.M1129I|LAMB3_uc001hhh.3_Missense_Mutation_p.M1129I	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	1129	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCTCCAACTCCATGTCTGAGG	0.587000														58			12		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754660	94754660	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94754660C>T	uc001yct.3	-	2	1421	c.955G>A	c.(955-957)Gac>Aac	p.D319N	SERPINA10_uc001ycu.4_Missense_Mutation_p.D319N	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.	319					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)		TCCACCAAGTCTGTGGTCAGG	0.502000														94			11		0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606842	55606842	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55606842C>T	uc010rio.2	+	0	615	c.615C>T	c.(613-615)gcC>gcT	p.A205A		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCACTGTTGCCACTTTTAATG	0.423000														99			30		0	0	1	0	0
ADRB1	153	broad.mit.edu	37	10	115804545	115804545	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115804545C>T	uc001lba.3	+	0	740	c.654C>T	c.(652-654)ttC>ttT	p.F218F		NM_000684	NP_000675	P08588	ADRB1_HUMAN	Homo sapiens adrenergic, beta-1-, receptor (ADRB1), mRNA.	218	Agonist and antagonist binding (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GCTGCGACTTCGTCACCAACC	0.662000														48			11		0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123821032	123821032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:123821032G>A	uc010tap.2	-	4	658	c.658C>T	c.(658-660)Cct>Tct	p.P220S	SBNO1_uc010tao.2_Missense_Mutation_p.P219S|SBNO1_uc010taq.2_Intron|SBNO1_uc001ueu.2_Missense_Mutation_p.P219S|SBNO1_uc001uet.2_Missense_Mutation_p.P220S|SBNO1_uc001uev.2_Missense_Mutation_p.P218S|SBNO1_uc009zxy.1_Missense_Mutation_p.P185S	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	220							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		tttACAACAGGAACCTTCTGC	0.418000														29			11		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11702695	11702695	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:11702695C>T	uc002rbk.1	+	2	564	c.264C>T	c.(262-264)tgC>tgT	p.C88C	GREB1_uc002rbl.3_Silent_p.C88C|GREB1_uc002rbm.3_5'UTR|GREB1_uc002rbn.1_Silent_p.C88C	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	88						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTGAAGGATGCTGTACCACAG	0.627000														109			21		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	333251	333251	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:333251G>A	uc001qic.2	-	10	1308	c.1218C>T	c.(1216-1218)taC>taT	p.Y406Y	SLC6A13_uc009zdj.2_Silent_p.Y396Y|SLC6A13_uc010sdl.2_Silent_p.Y314Y	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	406					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ACACGTGAGGGTACATGTCCA	0.562000														42			14		0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48181838	48181838	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48181838G>A	uc010slo.2	-	19	2540	c.2345C>T	c.(2344-2346)gCt>gTt	p.A782V	HDAC7_uc001rqe.3_Missense_Mutation_p.A216V|HDAC7_uc001rqj.4_Missense_Mutation_p.A745V|HDAC7_uc001rqk.4_Missense_Mutation_p.A765V|HDAC7_uc010slp.2_5'UTR	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	743	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CTCATCCACAGCCCCACTCCC	0.572000														44			11		0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102742658	102742658	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102742658C>T	uc001phk.3	-	2	472	c.375G>A	c.(373-375)atG>atA	p.M125I		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	125					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D124E(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	CCTCACGGTTCATGTCAGGTG	0.388000														22			9		0	0	1	0	0
PABPC1L	80336	broad.mit.edu	37	20	43541387	43541387	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43541387C>T	uc010ggv.1	+	1	362	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	PABPC1L_uc010zwq.1_Non-coding_Transcript	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.	94							RNA binding|nucleotide binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CCCAGGACTTCGCAAGTCAGG	0.512000														77			16		0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68947229	68947229	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:68947229G>A	uc001dem.4	-	8	1946	c.1829C>T	c.(1828-1830)cCc>cTc	p.P610L	DEPDC1_uc001dej.4_5'UTR|DEPDC1_uc001dek.4_Non-coding_Transcript|DEPDC1_uc001del.4_Missense_Mutation_p.P326L	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA.	610	Interaction with ZNF224.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ATTTGGTGGGGGAAGTAACAA	0.413000														21			14		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502893	90502893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90502893C>T	uc004app.4	+	3	3526	c.3491C>T	c.(3490-3492)tCc>tTc	p.S1164F		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1164						integral to membrane											ATGACAGCTTCCCAGGGGCCA	0.617000														23			15		0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208773295	208773295	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:208773295G>A	uc002vcl.2	-	5	2383	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	PLEKHM3_uc002vcm.2_Missense_Mutation_p.S646F	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	631					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTCTCTGGGGAAAATTCTGA	0.438000														62			24		0	0	1	0	0
O3FAR1	338557	broad.mit.edu	37	10	95335847	95335847	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95335847G>A	uc010qnt.2	+	2	624	c.568_splice	c.e2-1	p.E190_splice	O3FAR1_uc010qnu.2_Splice_Site_p.E190_splice	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	190					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding	p.?(1)		breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						TTTGTAACTAGGAAATTTCGA	0.438000														94			42		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94508333	94508333	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94508333G>A	uc001dqh.3	-	21	3416	c.3312C>T	c.(3310-3312)ctC>ctT	p.L1104L		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1104	ABC transporter 1.				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)		GATACTTCAGGAGCAGATCCC	0.572000														37			16		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44974582	44974582	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:44974582C>T	uc001wvn.3	-	0	1918	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	537	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GCAGGAGTTTCATCTGCAGGA	0.488000														29			20		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19176015	19176015	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:19176015G>A	uc001bba.1	-	3	1288	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	429					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCAGGAGAGTGAAGTTGACCT	0.562000														50			10		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6750959	6750959	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:6750959C>T	uc002wmu.1	+	1	971	c.186C>T	c.(184-186)ggC>ggT	p.G62G		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	62					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	GCATGTTCGGCCTGAAACAGA	0.682000														27			7		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71709035	71709035	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71709035C>T	uc010fen.3	+	2	315	c.174C>T	c.(172-174)atC>atT	p.I58I	DYSF_uc010fei.3_Silent_p.I57I|DYSF_uc010feh.3_Silent_p.I57I|DYSF_uc002sig.4_Silent_p.I57I|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.I57I|DYSF_uc010fee.3_Silent_p.I57I|DYSF_uc010fef.3_Silent_p.I57I|DYSF_uc002sie.3_Silent_p.I57I|DYSF_uc010feo.3_Silent_p.I58I|DYSF_uc010fej.3_Silent_p.I58I|DYSF_uc010fel.3_Silent_p.I58I|DYSF_uc010fem.3_Silent_p.I58I|DYSF_uc002sif.3_Silent_p.I58I|DYSF_uc010fek.3_Silent_p.I58I	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	57	C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCAAGGGCATCCCCCTGGACC	0.537000														26			11		0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40998146	40998146	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:40998146C>T	uc002ibu.3	+	0	1538	c.1503C>T	c.(1501-1503)ctC>ctT	p.L501L	AOC2_uc002ibt.3_Silent_p.L501L	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	501					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGGAGGGCCTCCTCTTTGGGA	0.567000														56			32		0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1811607	1811607	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:1811607G>A	uc002ltw.3	-	1	363	c.129C>T	c.(127-129)atC>atT	p.I43I	ATP8B3_uc002ltv.3_5'UTR|ATP8B3_uc002ltx.3_Non-coding_Transcript|ATP8B3_uc002ltz.1_5'UTR	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	43					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)		CACCTCCGCGGATGCCAGCAG	0.667000														23			9		0	0	1	0	0
PXK	54899	broad.mit.edu	37	3	58368345	58368345	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58368345G>A	uc003djz.1	+	3	405	c.306G>A	c.(304-306)gtG>gtA	p.V102V	PXK_uc003djx.1_Silent_p.V102V|PXK_uc003dka.1_Silent_p.V102V|PXK_uc003dkb.1_Silent_p.V19V|PXK_uc003dkc.1_Silent_p.V85V|PXK_uc011bfe.1_Silent_p.V69V|PXK_uc010hnj.1_Silent_p.V69V|PXK_uc003dkd.1_Intron|PXK_uc010hnk.1_5'UTR	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	Homo sapiens PX domain containing serine/threonine kinase (PXK), mRNA.	102	PX.|Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	ATP binding|actin binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	p.N101S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		ATCTCAACGTGATCACAACAA	0.388000														56			25		0	0	1	0	0
C20orf94	128710	broad.mit.edu	37	20	10603749	10603749	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:10603749C>T	uc010zre.2	+	7	1129	c.949C>T	c.(949-951)Cga>Tga	p.R317*		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	317			R -> Q (in dbSNP:rs6077853).				protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						TGGAAGTGATCGATTAGTCCC	0.458000														125			33		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855900	12855900	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12855900C>T	uc001auj.2	+	3	1283	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	394								p.L394Q(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TATTGACGCCCTGAAGGACCT	0.552000														206			43		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128489559	128489559	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128489559C>T	uc003vnz.4	+	29	5335	c.5126C>T	c.(5125-5127)cCc>cTc	p.P1709L	FLNC_uc003voa.4_Missense_Mutation_p.P1709L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1709					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.P1709P(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TACACAGCGCCCGAGCCGGGC	0.582000														42			25		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80770937	80770937	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:80770937C>T	uc001szd.3	+	56	6795	c.6789C>T	c.(6787-6789)atC>atT	p.I2263I	OTOGL_uc021rba.1_Silent_p.I282I|OTOGL_uc009zsg.2_Silent_p.I143I	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGAAAGTGATCATTAAATCGG	0.308000														32			10		0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031883	32031883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:32031883C>T	uc011axg.2	+	1	1861	c.1312C>T	c.(1312-1314)Cgt>Tgt	p.R438C	ZNF860_uc021wuv.1_Missense_Mutation_p.R438C	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R437H(1)		endometrium(3)|lung(4)|ovary(1)	8						TTTTAGACGTCGTTCATATCT	0.378000														68			18		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8478937	8478937	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:8478937C>T	uc001mgi.1	-	4	1567	c.648G>A	c.(646-648)agG>agA	p.R216R	STK33_uc001mgj.1_Silent_p.R216R|STK33_uc001mgk.1_Silent_p.R216R|STK33_uc010rbn.1_Silent_p.R175R|STK33_uc001mgl.3_Silent_p.R29R|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	216	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GAATGATCCACCTTGTCTCAT	0.393000														66			23		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369660	56369660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56369660G>A	uc002qmd.4	+	2	1323	c.901G>A	c.(901-903)Gga>Aga	p.G301R	NLRP4_uc002qmf.3_Missense_Mutation_p.G226R|NLRP4_uc010etf.3_Missense_Mutation_p.G132R	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	301	NACHT.						ATP binding	p.G301R(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCAGCCCCGGGGATTCAACGA	0.512000														66			21		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188190	152188190	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152188190C>T	uc001ezt.1	-	2	5991	c.5915G>A	c.(5914-5916)gGg>gAg	p.G1972E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1972					keratinization		calcium ion binding|protein binding	p.S1971*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAAGACCACCCTGAGCCAGA	0.607000														724			33		0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34502056	34502056	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34502056C>T	uc002xek.1	+	11	1873	c.1762C>T	c.(1762-1764)Cat>Tat	p.H588Y		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GCCAGGGGTCCATATGAGCCC	0.537000														61			30		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2022194	2022195	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2022194_2022195CC>TT	uc021qsx.1	-	2	651_652	c.420_421GG>AA	c.(418-423)gcggtc>gcAAtc	p.V141I	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.V141I	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	141						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.V141I(3)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGTACCTGGACCGCCTCGACTT	0.599000														19			4		0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49742868	49742868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:49742868C>T	uc001vcm.3	+	9	1462	c.1157C>T	c.(1156-1158)tCa>tTa	p.S386L	FNDC3A_uc001vcn.3_Missense_Mutation_p.S386L|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcp.1_Missense_Mutation_p.S330L|FNDC3A_uc001vcq.3_Missense_Mutation_p.S330L	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	386	Fibronectin type-III 2.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ACCAAAAATTCACTCACTTTG	0.398000														156			55		0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6483644	6483644	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6483644G>A	uc001qnw.3	-	0	747	c.483C>T	c.(481-483)ttC>ttT	p.F161F	SCNN1A_uc001qnx.3_Silent_p.F102F|SCNN1A_uc010sfb.2_Silent_p.F125F|LTBR_uc010sfc.1_5'Flank	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	102					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	AAAGCAGGCCGAATTGCCAGT	0.587000														68			9		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322559	55322559	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55322559C>T	uc010rig.2	+	0	777	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GTGGGTTTATCTGCATCATAA	0.468000										HNSCC(20;0.049)				60			35		0	0	1	0	0
GBP3	2635	broad.mit.edu	37	1	89481012	89481012	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:89481012G>A	uc001dmt.3	-	2	481	c.276C>T	c.(274-276)acC>acT	p.T92T	GBP3_uc010oss.2_Silent_p.T13T|GBP3_uc001dmu.3_5'UTR|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Silent_p.T92T	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	92						integral to membrane	GTP binding|GTPase activity	p.T92I(2)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GCAGGACTAAGGTGTGTTCTG	0.458000														131			48		0	0	1	0	0
ZNF268	10795	broad.mit.edu	37	12	133780482	133780482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:133780482C>T	uc010tch.2	+	5	2416	c.2210C>T	c.(2209-2211)tCa>tTa	p.S737L	ZNF268_uc010tbv.1_Missense_Mutation_p.S576L|ZNF268_uc010tbz.1_Missense_Mutation_p.S576L|ZNF268_uc010tcc.1_Missense_Mutation_p.S576L|ZNF268_uc010tcd.1_Missense_Mutation_p.S576L|ZNF268_uc010tbx.2_3'UTR|ZNF268_uc010tbw.2_3'UTR|ZNF268_uc010tce.2_3'UTR|ZNF268_uc010tcg.2_3'UTR|ZNF268_uc010tca.2_3'UTR|ZNF268_uc010tcf.2_Missense_Mutation_p.S737L|ZNF268_uc010tcb.2_3'UTR|ZNF268_uc021rgu.1_Missense_Mutation_p.S654L	NM_001165881	NP_001159354	Q14587	ZN268_HUMAN	Homo sapiens zinc finger protein 268 (ZNF268), transcript variant 2, mRNA.	737						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AGTTTCAATTCACAACTCATT	0.408000														16			3		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232171	117232171	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:117232171C>T	uc003vjd.3	+	13	2082	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	CFTR_uc011knq.2_Silent_p.F56F	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	650					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.F650F(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GTGATTCTTTCGACCAATTTA	0.383000									Cystic Fibrosis					92			14		0	0	1	0	0
PABPC1L	80336	broad.mit.edu	37	20	43559289	43559289	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43559289C>T	uc010ggv.1	+	7	1243	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	PABPC1L_uc010zwq.1_Non-coding_Transcript|PABPC1L_uc002xmv.2_Non-coding_Transcript|PABPC1L_uc002xmw.2_5'Flank|PABPC1L_uc002xmx.3_5'Flank	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.	387							RNA binding|nucleotide binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCGCCTCTCCACCATGCGGA	0.652000														231			42		0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111923659	111923659	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:111923659G>A	uc001tsj.3	-	16	2957	c.2795C>T	c.(2794-2796)tCt>tTt	p.S932F	ATXN2_uc001tsh.3_Missense_Mutation_p.S667F|ATXN2_uc001tsi.3_Missense_Mutation_p.S643F|ATXN2_uc001tsk.3_Non-coding_Transcript	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	932	Pro-rich.				RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGGGGTAGTAGAAGGCTTTGG	0.398000														38			13		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70526220	70526220	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:70526220G>A	uc002lkw.3	-	3	594	c.310C>T	c.(310-312)Cga>Tga	p.R104*	NETO1_uc002lky.2_Nonsense_Mutation_p.R104*|NETO1_uc002lkz.3_Nonsense_Mutation_p.R103*	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	104	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GGTCCATCTCGAACTTCAATA	0.378000														67			29		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155485641	155485641	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:155485641G>A	uc003qqb.3	+	9	3394	c.2121G>A	c.(2119-2121)ccG>ccA	p.P707P	TIAM2_uc003qqe.3_Silent_p.P707P|TIAM2_uc010kjj.3_Silent_p.P240P|TIAM2_uc003qqf.3_Silent_p.P59P|TIAM2_uc011efl.1_Silent_p.P19P|TIAM2_uc003qqg.3_Silent_p.P19P	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	707					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGGAGTTACCGAACCCAAAGA	0.542000														88			62		0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242285635	242285635	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242285635C>T	uc002wbh.3	+	13	1389	c.927C>T	c.(925-927)ttC>ttT	p.F309F	SEPT2_uc002wbc.3_Silent_p.F299F|SEPT2_uc002wbd.3_Silent_p.F299F|SEPT2_uc002wbf.3_Silent_p.F299F|SEPT2_uc002wbg.3_Silent_p.F299F|SEPT2_uc010zop.2_Silent_p.F334F	NM_006155	NP_006146	Q15019	SEPT2_HUMAN	Homo sapiens septin 2 (SEPT2), transcript variant 2, mRNA.	299					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		ATGAAAACTTCCGTTCTGAGA	0.507000														62			11		0	0	1	0	0
TBPL2	387332	broad.mit.edu	37	14	55903639	55903639	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:55903639G>A	uc001xby.3	-	1	248	c.248C>T	c.(247-249)tCg>tTg	p.S83L		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	83					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding	p.S83L(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TTCAGGGTTCGAATTAAATGC	0.448000														97			28		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25585831	25585831	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:25585831G>T	uc002kwg.2	-	5	1288	c.829C>A	c.(829-831)Cct>Act	p.P277T	CDH2_uc010xbn.1_Missense_Mutation_p.P246T	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	277	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATCCCTCAGGAACTGTCCCA	0.398000														98			33		1.22384e-17	1.2303e-17	1	1	0
ST8SIA3	51046	broad.mit.edu	37	18	55024477	55024477	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:55024477C>T	uc002lgn.3	+	2	993	c.636C>T	c.(634-636)ccC>ccT	p.P212P		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	212					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CCTTCAACCCCAGCATCCTGG	0.398000														103			31		0	0	1	0	0
C13orf33	84935	broad.mit.edu	37	13	31495738	31495738	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:31495738G>A	uc001uth.4	+	3	883	c.542G>A	c.(541-543)gGa>gAa	p.G181E	TEX26-AS1_uc001utg.2_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	Homo sapiens chromosome 13 open reading frame 33 (C13orf33), mRNA.	181										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		TTCCCCCCAGGAAATGAAGTG	0.358000														77			33		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28575418	28575418	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:28575418C>T	uc003xgz.1	+	2	2435	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	614						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.F614S(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCCATCTTTTCCCCCACACTC	0.572000														116			22		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52573812	52573812	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:52573812C>T	uc001jjj.3	-	9	1340	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	A1CF_uc010qho.2_Missense_Mutation_p.M392I|A1CF_uc010qhn.2_Intron|A1CF_uc009xov.3_Intron|A1CF_uc001jji.3_Intron|A1CF_uc001jjh.3_Intron	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	384	Required for nuclear localization.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CAGGTACATTCATGTAAATTT	0.468000														65			26		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128786428	128786428	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:128786428C>T	uc001qet.3	+	2	1376	c.1062C>T	c.(1060-1062)acC>acT	p.T354T	KCNJ5_uc009zck.3_Silent_p.T354T|KCNJ5_uc001qew.3_Silent_p.T354T	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	354					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TCCATGATACCTATGAGACCA	0.577000														131			51		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6678411	6678411	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6678411G>A	uc002mfm.3	-	38	4748	c.4686C>T	c.(4684-4686)atC>atT	p.I1562I		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1562	NTR.				G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CAATGGCCATGATGTACTCGT	0.577000														26			11		0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237279	56237279	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56237279C>T	uc010rjk.2	-	0	736	c.695G>A	c.(694-696)aGg>aAg	p.R232K	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GGCCTTCTGCCTTCCTTCTGC	0.443000														72			27		0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40433618	40433618	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:40433618G>A	uc003ckd.4	+	2	237	c.145G>A	c.(145-147)Gag>Aag	p.E49K	ENTPD3_uc010hhy.3_Missense_Mutation_p.E49K|ENTPD3-AS1_uc003cke.4_Non-coding_Transcript	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	49						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CCACAAGCAAGAGGTCCTCCC	0.468000														84			24		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5222727	5222727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:5222727G>A	uc002mbv.3	-	17	3310	c.3076C>T	c.(3076-3078)Cgc>Tgc	p.R1026C	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.2_Intron|PTPRS_uc002mbw.3_Missense_Mutation_p.R1004C|PTPRS_uc002mbx.3_Intron|PTPRS_uc002mby.3_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1026	Fibronectin type-III 7.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GTCCGGTAGCGGACGGGGGGG	0.746000														21			5		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72233977	72233977	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:72233977G>A	uc003xyu.3	-	5	1050	c.410C>T	c.(409-411)tCc>tTc	p.S137F	EYA1_uc003xyt.4_Missense_Mutation_p.S104F|EYA1_uc003xyr.4_Missense_Mutation_p.S137F|EYA1_uc010lzf.3_Missense_Mutation_p.S64F|EYA1_uc003xys.4_Missense_Mutation_p.S137F|EYA1_uc011lfe.2_Missense_Mutation_p.S136F|EYA1_uc003xyv.3_Missense_Mutation_p.S20F	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	137					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ACCATATGAGGAAATGCCGTA	0.488000														34			14		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48438674	48438674	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48438674C>T	uc001jfb.3	-	0	465	c.37G>A	c.(37-39)Ggg>Agg	p.G13R	GDF10_uc009xnp.3_Missense_Mutation_p.G13R|GDF10_uc009xnq.2_Missense_Mutation_p.G13R	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	13					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						agcTGGGGCCCGGGTCCCGGG	0.726000														25			5		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220156210	220156210	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220156210G>A	uc002vkz.3	-	19	2952	c.2711C>T	c.(2710-2712)cCc>cTc	p.P904L	PTPRN_uc010zlc.2_Missense_Mutation_p.P814L|PTPRN_uc002vla.3_Missense_Mutation_p.P875L	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	904	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CACGATGATGGGGCAGGAGCG	0.592000														39			14		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32379054	32379054	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:32379054C>T	uc002wzy.3	+	14	2316	c.2296C>T	c.(2296-2298)Ccc>Tcc	p.P766S	ZNF341_uc002wzx.3_Missense_Mutation_p.P759S|ZNF341_uc010geq.3_Missense_Mutation_p.P676S|ZNF341_uc010ger.3_Non-coding_Transcript|ZNF341_uc002wzz.3_Missense_Mutation_p.P193S	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	766					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGTGCTGACCCCCTTGCCTGA	0.721000														29			15		0	0	1	0	0
GLT25D2	23127	broad.mit.edu	37	1	183944265	183944265	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:183944265C>T	uc001gqr.3	-	2	830	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	GLT25D2_uc010poj.1_Missense_Mutation_p.R153Q|GLT25D2_uc001gqs.3_Missense_Mutation_p.R33Q	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	153					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	p.R153Q(2)|p.R153R(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						CCTCGCAGTTCGAAGGGCTGC	0.423000														86			32		0	0	1	0	0
ASB17	127247	broad.mit.edu	37	1	76397716	76397716	+	Silent	SNP	G	A	A	rs11811988		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:76397716G>A	uc001dhe.2	-	0	401	c.261C>T	c.(259-261)ctC>ctT	p.L87L	ASB17_uc001dhf.2_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA.	87					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CAGTGAAGTCGAGGTTAAAAC	0.378000														68			7		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84683354	84683354	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:84683354C>T	uc002bjz.4	+	23	4258	c.4034C>T	c.(4033-4035)tCc>tTc	p.S1345F	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.S1345F	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1345	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGCAATGTTTCCTTGCTTTTC	0.428000														176			53		0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55655610	55655610	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55655610G>A	uc010rip.2	+	3	702	c.610G>A	c.(610-612)Gag>Aag	p.E204K	TRIM51_uc010riq.2_Missense_Mutation_p.E61K	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	204						intracellular	zinc ion binding	p.E204K(1)|p.E45K(1)									GCTGCGAAAGGAGGGCGAGGA	0.423000														70			33		0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43982259	43982259	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43982259C>T	uc002zbj.3	+	11	2035	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	SLC37A1_uc002zbi.3_Silent_p.P351P	NM_018964	NP_061837	P57057	GLPT_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 1 (SLC37A1), mRNA.	351					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						TCTGGCTGCCCCTGTACATCA	0.507000														106			30		0	0	1	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31967359	31967359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31967359G>A	uc010gek.3	-	8	1181	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	CDK5RAP1_uc002wyy.3_Missense_Mutation_p.R249C|CDK5RAP1_uc002wyz.3_Missense_Mutation_p.R339C|CDK5RAP1_uc002wza.3_Missense_Mutation_p.R339C|CDK5RAP1_uc010gel.3_Missense_Mutation_p.R249C|CDK5RAP1_uc010gem.3_Intron|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.R339C	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA.	353					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	p.R339C(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TGAGCAAAACGAAGTCCTCCT	0.483000														39			23		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188219	7188219	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7188219G>A	uc010sfy.2	-	8	1560	c.1501C>T	c.(1501-1503)Cct>Tct	p.P501S		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	579	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	TCGTTGTCAGGGAGGCAGATG	0.552000														31			18		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841626	94841626	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:94841626G>A	uc002btj.3	+	0	197	c.132G>A	c.(130-132)ttG>ttA	p.L44L	MCTP2_uc010urg.1_Silent_p.L44L|MCTP2_uc002bti.2_Silent_p.L44L|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Silent_p.L44L|MCTP2_uc002btg.4_Silent_p.L44L|MCTP2_uc002bth.4_Silent_p.L44L	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	44					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGCATCACTTGGACCGCCGTC	0.572000														107			24		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38760200	38760200	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38760200C>T	uc003ciq.3	-	19	3625	c.3625G>A	c.(3625-3627)Ggc>Agc	p.G1209S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1209					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTTTTGAAGCCATAGGCCACC	0.527000														96			30		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140532154	140532154	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140532154C>T	uc003lir.3	+	0	2316	c.2316C>T	c.(2314-2316)ttC>ttT	p.F772F		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	772					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCCCAACTTCCCTCCTCAGG	0.483000														96			26		0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37707082	37707082	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37707082C>T	uc003arf.3	+	9	978	c.862C>T	c.(862-864)Ctc>Ttc	p.L288F	CYTH4_uc011amw.2_Missense_Mutation_p.L231F	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	288	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CGACAACTGCCTCTACTACTT	0.627000														128			48		0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094150	46094150	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46094150G>A	uc002pcm.3	-	1	1920	c.975C>T	c.(973-975)acC>acT	p.T325T	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.T325T	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	325						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		AGGTGAGTGGGGTCTCCAGGG	0.662000														93			11		0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5147850	5147850	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:5147850C>T	uc001ihr.3	+	7	1093	c.910C>T	c.(910-912)Cac>Tac	p.H304Y	AKR1C3_uc021pml.1_Missense_Mutation_p.H304Y|AKR1C3_uc010qap.2_Missense_Mutation_p.H281Y|AKR1C3_uc001ihu.3_Missense_Mutation_p.H304Y	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	304					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	CAGAAATCTCCACTATTTTAA	0.358000														35			13		0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72290353	72290353	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:72290353G>A	uc010rrc.2	-	26	2577	c.2331C>T	c.(2329-2331)ttC>ttT	p.F777F	PDE2A_uc001oso.3_Silent_p.F756F|PDE2A_uc010rra.2_Silent_p.F770F|PDE2A_uc001osn.3_Silent_p.F521F|PDE2A_uc010rrb.2_Silent_p.F768F|PDE2A_uc010rrd.2_Silent_p.F662F	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	777	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.I776M(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GGAGGTCCTTGAAGATGCGGA	0.602000														78			43		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524132	24524132	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:24524132C>T	uc002wtw.1	+	1	1032	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	133					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ATGGGAAGTTCATTGACCTCT	0.587000														117			51		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57437680	57437680	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57437680C>T	uc001smw.4	-	9	1092	c.852G>A	c.(850-852)caG>caA	p.Q284Q	MYO1A_uc010sqz.2_Silent_p.Q122Q|MYO1A_uc009zpd.3_Silent_p.Q284Q	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	284	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCCCACTGGCCTGGAACTCAT	0.552000														36			15		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139657563	139657563	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:139657563G>A	uc011kqv.2	+	9	1195	c.960_splice	c.e9+1	p.E320_splice	TBXAS1_uc003vvh.3_Splice_Site_p.E274_splice|TBXAS1_uc010lne.3_Splice_Site_p.E206_splice|TBXAS1_uc011kqu.2_Splice_Site_p.E225_splice|TBXAS1_uc003vvi.3_Splice_Site_p.E274_splice|TBXAS1_uc011kqw.2_Splice_Site_p.E254_splice|TBXAS1_uc003vvj.3_Splice_Site_p.E274_splice	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	273					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CTGCCGAAGAGGTAACGTATT	0.478000														58			6		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169632887	169632887	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169632887G>A	uc011cjx.2	+	9	1988	c.1777G>A	c.(1777-1779)Ggc>Agc	p.G593S	PALLD_uc003iru.3_Missense_Mutation_p.G593S|PALLD_uc003irv.3_Missense_Mutation_p.G211S	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	593					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CCCTGAGTTAGGCCTGAGCAG	0.512000									Pancreatic Cancer, Familial Clustering of					42			26		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147481403	147481403	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:147481403G>A	uc003lox.2	+	14	1435	c.1362G>A	c.(1360-1362)gaG>gaA	p.E454E	SPINK5_uc010jgs.1_Silent_p.E426E|SPINK5_uc010jgr.2_Silent_p.E435E|SPINK5_uc003low.2_Silent_p.E454E|SPINK5_uc003loy.2_Silent_p.E454E	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	454	Kazal-like 7.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCAGAGAGAATGACCCCA	0.493000														87			31		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18702854	18702854	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:18702854G>A	uc001bau.2	+	6	1449	c.1066G>A	c.(1066-1068)Ggg>Agg	p.G356R	IGSF21_uc001bav.2_Missense_Mutation_p.G177R	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	356	Ig-like 2.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		AGCCCGGGTAGGGGACACAGT	0.587000														189			61		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82837305	82837306	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:82837305_82837306CC>TT	uc003kii.3	+	7	8839_8840	c.8483_8484CC>TT	c.(8482-8484)ccc>cTT	p.P2828L	VCAN_uc003kij.3_Missense_Mutation_p.P1841L|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P1492L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2828	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCATCATCTCCCCTCACTATCT	0.500000														127			21		0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246811221	246811221	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:246811221C>T	uc001ibp.3	+	8	2096	c.1718C>T	c.(1717-1719)tCc>tTc	p.S573F	CNST_uc001ibo.4_Missense_Mutation_p.S573F	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	573					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GACGACGACTCCGATCTCCTT	0.408000														237			53		0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20666274	20666274	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20666274G>A	uc010tlb.2	+	0	780	c.780G>A	c.(778-780)gtG>gtA	p.V260V		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V259V(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTCTGGTCGTGAGAGCTGTGT	0.507000														251			51		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81545644	81545644	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81545644G>A	uc001szl.1	+	5	1034	c.943G>A	c.(943-945)Gga>Aga	p.G315R	ACSS3_uc001szm.1_Missense_Mutation_p.G314R|ACSS3_uc001szn.1_5'UTR	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	315						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCCCACTGGGGGATACGCTGT	0.383000														87			16		0	0	1	0	0
CLLU1	574028	broad.mit.edu	37	12	92818597	92818597	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:92818597G>A	uc001tcf.2	+	0	863	c.141G>A	c.(139-141)ctG>ctA	p.L47L	CLLU1OS_uc001tcb.1_Intron|CLLU1_uc001tcc.2_Intron|CLLU1_uc001tcd.2_Intron|CLLU1_uc001tce.1_Intron	NM_001025233	NP_001020404			Homo sapiens chronic lymphocytic leukemia up-regulated 1 (CLLU1), mRNA.											NS(1)|breast(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						TAAATAAGCTGATTATTTATT	0.313000														35			13		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138985	126138985	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:126138985C>T	uc001uhe.1	+	8	2974	c.2966C>T	c.(2965-2967)tCc>tTc	p.S989F	TMEM132B_uc001uhf.1_Missense_Mutation_p.S501F	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	989						integral to membrane		p.S988G(1)		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)		AATGGCAGTTCCCAGAAGACT	0.453000														22			15		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180566	124180566	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124180566C>T	uc010sag.2	-	0	97	c.97G>A	c.(97-99)Gga>Aga	p.G33R		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	33					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)		ACATAGATTCCCAGGAACAGG	0.483000														106			45		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124345586	124345586	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124345586C>T	uc001lgk.1	+	15	1576	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	DMBT1_uc001lgl.1_Silent_p.S480S|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Silent_p.S490S|DMBT1_uc021qag.1_Silent_p.S480S|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Silent_p.S490S|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.	490					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GATCTGAATCCAGTTTGGCCC	0.542000														312			119		0	0	1	0	0
ADCYAP1	116	broad.mit.edu	37	18	909582	909582	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:909582G>A	uc010dkg.3	+	4	596	c.477G>A	c.(475-477)ggG>ggA	p.G159G	ADCYAP1_uc010dkh.3_Silent_p.G159G	NM_001099733	NP_001108	P18509	PACA_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) (ADCYAP1), transcript variant 1, mRNA.	159					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CCGTCCTAGGGAAGAGGTATA	0.512000														199			40		0	0	1	0	0
TGIF2LY	90655	broad.mit.edu	37	Y	3447488	3447488	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:3447488G>A	uc004fqk.3	+	1	267	c.203G>A	c.(202-204)tGg>tAg	p.W68*	TGIF2LY_uc022ciw.1_Nonsense_Mutation_p.W68*	NM_139214	NP_631960	Q8IUE0	TF2LY_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, Y-linked (TGIF2LY), mRNA.	68						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						CTCCGCGACTGGATGTATAAG	0.463000														65			16		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55223540	55223540	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55223540G>A	uc003tqk.3	+	7	1153	c.907G>A	c.(907-909)Gat>Aat	p.D303N	EGFR_uc003tqh.3_Missense_Mutation_p.D303N|EGFR_uc003tqi.3_Missense_Mutation_p.D303N|EGFR_uc003tqj.3_Missense_Mutation_p.D303N|EGFR_uc022adm.1_Missense_Mutation_p.D303N|EGFR_uc010kzg.2_Missense_Mutation_p.D258N|EGFR_uc022adn.1_Missense_Mutation_p.D258N|EGFR_uc011kco.2_Missense_Mutation_p.D250N|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	303					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.D303H(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGTGGTGACAGATCACGGCTC	0.597000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				81			16		0	0	1	0	0
FRRS1	391059	broad.mit.edu	37	1	100182983	100182983	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:100182983C>T	uc001dsh.1	-	10	1821	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.	407	Cytochrome b561.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CAAGCTGCTTCACCAAGCAAG	0.403000														126			42		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189590653	189590653	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:189590653G>A	uc003fry.2	+	9	1307	c.1218G>A	c.(1216-1218)agG>agA	p.R406R	TP63_uc003frx.2_Silent_p.R406R|TP63_uc003frz.2_Silent_p.R406R|TP63_uc010hzc.1_Silent_p.R406R|TP63_uc003fsa.2_Silent_p.R312R|TP63_uc003fsb.2_Silent_p.R312R|TP63_uc003fsc.2_Silent_p.R312R|TP63_uc003fsd.2_Silent_p.R312R|TP63_uc021xir.1_Silent_p.R312R|TP63_uc010hzd.1_Silent_p.R227R	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	406	Oligomerization.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CATAGGTGAGGGGCCGTGAGA	0.438000										HNSCC(45;0.13)				35			15		0	0	1	0	0
LYNX1	66004	broad.mit.edu	37	8	143846155	143846155	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:143846155G>A	uc003yxb.3	-	4	892	c.264C>T	c.(262-264)gtC>gtT	p.V88V	LYNX1_uc003yxa.3_Silent_p.V54V	NM_023946	NP_076435	Q86SR0	SLUR2_HUMAN	Homo sapiens Ly6/neurotoxin 1 (LYNX1), transcript variant 1, mRNA.	54	UPAR/Ly6.					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)					TGTTGCTGAGGACCCCTGAGT	0.622000														43			20		0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110454763	110454763	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:110454763C>T	uc003kpd.3	+	16	2134	c.2017C>T	c.(2017-2019)Cct>Tct	p.P673S	WDR36_uc010jbu.3_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	Homo sapiens WD repeat domain 36 (WDR36), mRNA.	673					rRNA processing|response to stimulus|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TTCTATGTCTCCTACTGGAGA	0.373000														142			56		0	0	1	0	0
RNASE7	84659	broad.mit.edu	37	14	21511371	21511371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21511371G>A	uc021rou.1	+	0	220	c.220G>A	c.(220-222)Gag>Aag	p.E74K	NDRG2_uc010tll.2_Intron|RNASE7_uc001vzk.4_Missense_Mutation_p.E74K|RNASE7_uc001vzl.2_Non-coding_Transcript	NM_032572	NP_115961	Q9H1E1	RNAS7_HUMAN	Homo sapiens ribonuclease, RNase A family, 7 (RNASE7), mRNA.	74					defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CTTCCTGCACGAGCCTTTCTC	0.542000														92			26		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476693	140476693	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140476693C>T	uc003lil.3	+	0	2457	c.2319C>T	c.(2317-2319)atC>atT	p.I773I	PCDHB2_uc003lim.1_Silent_p.I434I	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	773					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCAATTATCCCCAACTTCG	0.512000														89			39		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4947742	4947743	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:4947742_4947743CC>TT	uc002cyd.1	-	8	995_996	c.905_906GG>AA	c.(904-906)tgg>tAA	p.W302*		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	302					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGTACTCCTTCCAGTCTGCGTG	0.604000														29			19		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907225	164907225	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:164907225C>T	uc003fej.4	-	1	1838	c.1394G>A	c.(1393-1395)gGc>gAc	p.G465D	SLITRK3_uc003fek.3_Missense_Mutation_p.G465D|SLITRK3_uc021xgy.1_Missense_Mutation_p.G465D	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	465						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TATATCGTTGCCATTAAGGAA	0.463000										HNSCC(40;0.11)				44			14		0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38098611	38098611	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:38098611G>A	uc002yvr.2	+	5	791	c.735G>A	c.(733-735)ctG>ctA	p.L245L	SIM2_uc002yvq.3_Silent_p.L245L	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	245	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TGATATTCCTGGATTCCAGGT	0.562000														21			9		0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409675	59409675	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:59409675G>A	uc003xtm.4	-	2	459	c.396C>T	c.(394-396)acC>acT	p.T132T		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	132					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGCCCTGCAGGGTTTTGATGA	0.458000									Neonatal Giant Cell Hepatitis					89			36		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580483	140580483	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140580483G>A	uc003liy.3	+	0	1136	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	379	Cadherin 4.				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)			GGGGACAACGGAAGAATTGTT	0.433000														114			35		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116548868	116548868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:116548868C>T	uc002tle.3	+	18	1669	c.1648C>T	c.(1648-1650)Cct>Tct	p.P550S	DPP10_uc002tla.2_Missense_Mutation_p.P546S|DPP10_uc002tlb.2_Missense_Mutation_p.P496S|DPP10_uc002tlc.2_Missense_Mutation_p.P542S|DPP10_uc002tlf.2_Missense_Mutation_p.P539S	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	546					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAAAGAACTTCCTTTACAGTT	0.313000														104			43		0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26586932	26586932	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:26586932C>T	uc001mqw.3	-	2	828	c.555G>A	c.(553-555)gtG>gtA	p.V185V	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Silent_p.V158V|MUC15_uc001mqy.3_Silent_p.V185V	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	158						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CAGGAGTTTTCACGGTGTCAT	0.448000														120			49		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20525739	20525740	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:20525739_20525740CC>TT	uc003gpr.1	+	13	1581_1582	c.1377_1378CC>TT	c.(1375-1380)agcccc>agTTcc	p.P460S	SLIT2_uc003gps.1_Missense_Mutation_p.P460S	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	460	LRRCT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTTGCACCAGCCCCCGCCGCCT	0.485000														197			47		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78944602	78944602	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:78944602G>A	uc001jxn.3	-	3	852	c.675C>T	c.(673-675)ttC>ttT	p.F225F	KCNMA1_uc021ptu.1_Silent_p.F171F|KCNMA1_uc001jxj.2_Silent_p.F225F|KCNMA1_uc001jxk.1_5'Flank|KCNMA1_uc009xrt.1_Silent_p.F45F|KCNMA1_uc001jxo.3_Silent_p.F225F|KCNMA1_uc001jxm.3_Silent_p.F225F|KCNMA1_uc001jxq.3_Silent_p.F225F	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	225					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AGTAGAGAAGGAAGAACACGT	0.453000														99			33		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753258	76753258	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:76753258C>T	uc002lmt.3	+	1	1267	c.1267C>T	c.(1267-1269)Cgc>Tgc	p.R423C	SALL3_uc010dra.3_Missense_Mutation_p.R30C	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCACAAATGCCGCTTCTGCGC	0.642000														15			8		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655181	19655181	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19655181C>T	uc002nmw.4	+	7	1930	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F	CILP2_uc002nmv.4_Silent_p.F609F	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	609						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGGTGACGTTCGTGGACCCCC	0.692000														111			53		0	0	1	0	0
SULT4A1	25830	broad.mit.edu	37	22	44234833	44234833	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:44234833G>A	uc003bee.1	-	3	538	c.422C>T	c.(421-423)tCt>tTt	p.S141F	SULT4A1_uc003bed.1_Missense_Mutation_p.S62F|SULT4A1_uc003bef.1_Non-coding_Transcript|SULT4A1_uc011aqb.1_Intron	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	Homo sapiens sulfotransferase family 4A, member 1 (SULT4A1), mRNA.	141					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CTGATAATAAGACACCACCAG	0.552000														59			21		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57422542	57422542	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57422542C>T	uc001cyp.3	-	2	358	c.291G>A	c.(289-291)ggG>ggA	p.G97G	C8B_uc010oon.2_Silent_p.G35G|C8B_uc010ooo.2_Silent_p.G45G	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	97	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.G97W(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGCACGGTTCCCCATGGAACT	0.522000														167			42		0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19136816	19136816	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19136816G>A	uc002nkz.1	-	2	403	c.383C>T	c.(382-384)tCt>tTt	p.S128F	SUGP2_uc002nkx.2_Missense_Mutation_p.S114F|SUGP2_uc002nla.1_Missense_Mutation_p.S114F|SUGP2_uc002nlb.2_Missense_Mutation_p.S114F|SUGP2_uc010xqk.1_Missense_Mutation_p.L16F	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	114					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ATCAGAGTGAGAAAATTCCAG	0.502000														73			44		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11706749	11706749	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:11706749T>C	uc002rbk.1	+	3	721	c.421T>C	c.(421-423)Ttg>Ctg	p.L141L	GREB1_uc002rbl.3_Silent_p.L141L|GREB1_uc002rbm.3_Silent_p.L31L|GREB1_uc002rbn.1_Silent_p.L141L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	141						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAAGAGGTTCTTGCCAGATGA	0.577000														105			42		0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38065836	38065836	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38065836C>T	uc003chm.3	-	0	443	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	PLCD1_uc003chn.3_Intron	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	0	PH.|Substrate binding (By similarity).				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	GTPase activating protein binding|calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ACCCAGCCTCCGTCCATTGAG	0.667000														34			15		0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17198950	17198950	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:17198950C>T	uc003wxm.3	-	5	893	c.654G>A	c.(652-654)gaG>gaA	p.E218E	MTMR7_uc003wxn.3_5'UTR	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	218	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TCTGCTCGTCCTCTAGGCACC	0.577000														40			7		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48624743	48624743	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48624743G>A	uc003ctz.2	-	22	3020	c.3019C>T	c.(3019-3021)Cca>Tca	p.P1007S		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1007	Fibronectin type-III 9.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGATCCCTGGAAGTGTCTGC	0.597000														6			5		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17697186	17697186	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:17697186C>T	uc002grm.3	+	2	1393	c.924C>T	c.(922-924)ctC>ctT	p.L308L	RAI1_uc002grn.1_Silent_p.L308L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	308	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACCAAAACCTCGCCAAGTATC	0.627000														68			34		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179505290	179505290	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179505290C>T	uc021vsy.1	-	169	33222	c.32997G>A	c.(32995-32997)agG>agA	p.R10999R	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.R4694R|TTN_uc021vta.1_Silent_p.R4627R|TTN_uc021vtb.1_Silent_p.R4502R|TTN_uc010fre.1_Silent_p.R877R|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_Silent_p.R214R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11926	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T10998R(1)		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)			CAGGAATCTTCCTTTCCCTTT	0.323000														126			26		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89925077	89925077	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89925077T>G	uc003kju.3	+	8	1656	c.1560T>G	c.(1558-1560)ttT>ttG	p.F520L	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	520					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAATAACATTTTTTCCTATGG	0.373000														30			9		0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30890998	30890998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30890998C>T	uc011dmz.2	+	23	2474	c.2393C>T	c.(2392-2394)cCt>cTt	p.P798L	VARS2_uc003nsc.2_Missense_Mutation_p.P768L|VARS2_uc011dmx.2_Missense_Mutation_p.P768L|VARS2_uc011dmy.2_Missense_Mutation_p.P628L|VARS2_uc011dna.2_Missense_Mutation_p.P766L|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_Missense_Mutation_p.P206L|VARS2_uc010jsg.2_Missense_Mutation_p.P140L|VARS2_uc010jsh.2_5'UTR	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	768					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GTGCCACAGCCTGCTGAGGAG	0.532000														130			30		0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55352346	55352346	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:55352346C>T	uc002lgw.3	-	14	1550	c.1430_splice	c.e14-1	p.G477_splice	LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	477					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CCCGATGGTCCCCTGAGAAAC	0.473000														123			9		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249913	52249913	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52249913C>T	uc021uyn.1	-	2	481	c.335G>A	c.(334-336)aGt>aAt	p.S112N	FPR1_uc002pxq.3_Missense_Mutation_p.S112N|FPR1_uc021uyo.1_Missense_Mutation_p.S112N	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	112					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)	CAGGAAGACACTTCCGAACAA	0.547000														69			21		0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106460850	106460850	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:106460850G>A	uc001tlj.1	-	6	3096	c.1716C>T	c.(1714-1716)atC>atT	p.I572I		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	572							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGTCATCGCTGATGACACTGG	0.617000														28			18		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70319451	70319451	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70319451C>T	uc001oqc.3	-	21	4987	c.4875G>A	c.(4873-4875)caG>caA	p.Q1625Q	SHANK2_uc010rqn.2_Silent_p.Q1101Q|SHANK2_uc001opz.3_Silent_p.Q1096Q|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Silent_p.Q27Q|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1312					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGGGCCGGCTCTGCAGGGTGA	0.617000														35			7		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179720208	179720208	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179720208G>A	uc002une.2	-	18	3044	c.2926C>T	c.(2926-2928)Cca>Tca	p.P976S	CCDC141_uc002unf.1_Missense_Mutation_p.P455S	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	401							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTATCACTTGGATAATTTAAG	0.294000														47			21		0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616180	248616180	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248616180C>T	uc001iek.1	+	0	82	c.82C>T	c.(82-84)Ctc>Ttc	p.L28F		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			CCCCGGGCTTCTCTTTGCAAT	0.527000														275			36		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181740436	181740436	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181740436G>A	uc009wxt.3	+	35	5084	c.4889G>A	c.(4888-4890)gGa>gAa	p.G1630E	CACNA1E_uc001gow.3_Missense_Mutation_p.G1630E|CACNA1E_uc009wxs.3_Missense_Mutation_p.G1611E|CACNA1E_uc001gox.1_Missense_Mutation_p.G856E|5S_rRNA_uc021pft.1_5'Flank	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1630					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						AAGGTATTTGGAAACATAAAA	0.463000														3			5		0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78695312	78695312	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:78695312G>A	uc003dqe.2	-	20	3076	c.2868C>T	c.(2866-2868)gtC>gtT	p.V956V	ROBO1_uc003dqc.2_Silent_p.V911V|ROBO1_uc003dqd.2_Silent_p.V911V|ROBO1_uc003dqb.2_Silent_p.V917V|ROBO1_uc010hoh.2_Silent_p.V148V|ROBO1_uc011bgl.1_Silent_p.V528V	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	956					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTCCACTGCTGACAGCTTCGC	0.348000														83			27		0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40778245	40778245	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:40778245G>A	uc003gvj.4	+	6	1500	c.1005G>A	c.(1003-1005)ttG>ttA	p.L335L	NSUN7_uc003gvi.4_Silent_p.L335L	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATCCTGACTTGAAGACCCTTT	0.308000														92			28		0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147863901	147863901	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:147863901C>T	uc021yfj.1	-	5	1165	c.1118G>A	c.(1117-1119)tGg>tAg	p.W373*	HTR4_uc021yfg.1_Intron|HTR4_uc021yfh.1_Intron|HTR4_uc010jgu.1_Intron|HTR4_uc021yfi.1_Intron|HTR4_uc011dby.1_Intron|HTR4_uc003lpn.3_Intron|HTR4_uc010jgv.3_Intron	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	359					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	AGGCTTTGTCCAATACCTTGC	0.388000														35			21		0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227159	35227159	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:35227159G>A	uc001bxw.4	+	0	304	c.304G>A	c.(304-306)Gag>Aag	p.E102K	GJB4_uc001bxv.1_Missense_Mutation_p.E102K	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	102					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CGAGGAACGCGAGCGCAAGCA	0.647000														22			13		0	0	1	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64698931	64698931	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64698931C>T	uc001obz.3	+	7	1208	c.915C>T	c.(913-915)ttC>ttT	p.F305F	PPP2R5B_uc001oby.3_Silent_p.F305F	NM_006244	NP_006235	Q15173	2A5B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA.	305					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TGGTGCAGTTCCTGGAGAAGG	0.602000														26			14		0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39597240	39597240	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:39597240G>A	uc001uwy.3	-	7	1465	c.592C>T	c.(592-594)Cct>Tct	p.P198S	PROSER1_uc001uwz.3_Missense_Mutation_p.P176S	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	198	Pro-rich.																TAAGGAACAGGTTTATGTGGA	0.378000														136			16		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79440623	79440623	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:79440623C>T	uc003hlb.2	+	66	10968	c.10528C>T	c.(10528-10530)Ctc>Ttc	p.L3510F		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3505					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGACACTGTTCTCTGGAGAAC	0.473000														167			90		0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35251398	35251398	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35251398G>A	uc010edn.1	-	3	696	c.308C>T	c.(307-309)tCt>tTt	p.S103F	ZNF599_uc010edm.2_Missense_Mutation_p.S66F	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTCCTGGAAAGAGGATTCCTC	0.428000														65			30		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167865839	167865839	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167865839G>T	uc001ger.3	-	6	1031	c.733C>A	c.(733-735)Cac>Aac	p.H245N	ADCY10_uc010plj.2_Missense_Mutation_p.H92N|ADCY10_uc009wvk.3_Missense_Mutation_p.H153N|ADCY10_uc009wvl.3_Missense_Mutation_p.H244N|ADCY10_uc009wvm.2_Non-coding_Transcript	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	245					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTACTTTTGTGCTCACCAGAA	0.398000														235			99		3.69185e-53	3.71622e-53	1	1	0
DHX34	9704	broad.mit.edu	37	19	47858339	47858339	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:47858339C>T	uc010xyn.2	+	2	1098	c.749C>T	c.(748-750)aCc>aTc	p.T250I	DHX34_uc010elc.1_Missense_Mutation_p.T250I	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	250	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TCGGCGGCCACCAAGATTGTA	0.587000														94			17		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610225	47610225	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47610225G>A	uc001cqv.1	+	7	952	c.901G>A	c.(901-903)Gag>Aag	p.E301K	CYP4A22_uc009vyo.3_Missense_Mutation_p.E301K|CYP4A22_uc009vyp.3_Intron	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	301						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCCCAGATGGAGAATGGGAG	0.537000														154			31		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475717	120475717	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:120475717G>A	uc004bjz.3	+	2	1602	c.1311G>A	c.(1309-1311)atG>atA	p.M437I	TLR4_uc004bkb.3_Missense_Mutation_p.M237I|TLR4_uc004bka.3_Missense_Mutation_p.M397I	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	437					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGAAACAAATGAGTGAGTTTT	0.378000														77			20		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105423001	105423001	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105423001G>A	uc010axc.1	-	3	359	c.239C>T	c.(238-240)tCt>tTt	p.S80F	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_5'UTR	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	80						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTCCCAGCAGAACCTTGCCT	0.617000														92			36		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348709	140348709	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140348709C>T	uc003lii.3	+	0	2963	c.2358C>T	c.(2356-2358)tcC>tcT	p.S786S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.S786S	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	786					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)			GGAATGGCTCCCTCACCAAGA	0.512000														54			20		0	0	1	0	0
HAS1	3036	broad.mit.edu	37	19	52220436	52220436	+	Missense_Mutation	SNP	G	A	A	rs143266369	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52220436G>A	uc002pxn.1	-	1	747	c.734C>T	c.(733-735)tCg>tTg	p.S245L	HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_Missense_Mutation_p.S203L|HAS1_uc002pxo.1_Missense_Mutation_p.S238L|HAS1_uc002pxp.1_Missense_Mutation_p.S237L	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	238					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	p.M245I(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCTTGTGTCCGAGTCACAGAC	0.617000														46			20		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111540568	111540568	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:111540568C>T	uc003vfy.3	-	14	1611	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	DOCK4_uc003vfx.3_Missense_Mutation_p.E448K|DOCK4_uc003vga.1_Missense_Mutation_p.E53K	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	448	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GCTGGTGGCTCCCCAGAGCCG	0.453000														19			9		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75113409	75113409	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:75113409G>A	uc009xrc.3	-	2	276	c.155C>T	c.(154-156)cCa>cTa	p.P52L	TTC18_uc001jty.3_Missense_Mutation_p.P52L|TTC18_uc009xrd.1_5'UTR	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	52							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ACTTCCTTCTGGAGAAACAGT	0.403000														84			19		0	0	1	0	0
ANKRD54	129138	broad.mit.edu	37	22	38234576	38234576	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38234576G>A	uc003auc.3	-	2	514	c.406C>T	c.(406-408)Ccc>Tcc	p.P136S	ANKRD54_uc003aud.3_Missense_Mutation_p.P13S	NM_138797	NP_620152	Q6NXT1	ANR54_HUMAN	Homo sapiens ankyrin repeat domain 54 (ANKRD54), transcript variant 1, mRNA.	136										lung(1)	1	Melanoma(58;0.045)					GCTGCACAGGGATCCGCGCCA	0.592000														19			3		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53613787	53613787	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:53613787G>A	uc004dsp.3	-	37	5099	c.4697C>T	c.(4696-4698)cCc>cTc	p.P1566L	HUWE1_uc004dsn.3_Missense_Mutation_p.P391L	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1566					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGGAGGCAGGGCTGAACCAC	0.488000														22			12		0	0	1	0	0
LHX5	64211	broad.mit.edu	37	12	113907014	113907014	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113907014C>T	uc001tvj.1	-	1	884	c.310G>A	c.(310-312)Gag>Aag	p.E104K		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	Homo sapiens LIM homeobox 5 (LHX5), mRNA.	104	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						ACGTAGAGCTCCTCGCCGGTG	0.572000														48			21		0	0	1	0	0
C16orf54	283897	broad.mit.edu	37	16	29755651	29755651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:29755651C>T	uc002dtp.2	-	1	731	c.622G>A	c.(622-624)Gag>Aag	p.E208K	BOLA2_uc010bzb.1_Intron|BC041466_uc002dtq.1_5'Flank	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN	Homo sapiens chromosome 16 open reading frame 54 (C16orf54), mRNA.	208						integral to membrane				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						GAGATCTGCTCCAAGGTGACC	0.667000														22			5		0	0	1	0	0
ICAM2	3384	broad.mit.edu	37	17	62082713	62082713	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62082713C>T	uc002jdu.4	-	1	314	c.82G>A	c.(82-84)Gag>Aag	p.E28K	ICAM2_uc002jdw.4_Missense_Mutation_p.E28K|ICAM2_uc010ded.3_Missense_Mutation_p.E28K|ICAM2_uc002jdx.4_Missense_Mutation_p.E28K|ICAM2_uc002jdv.4_Missense_Mutation_p.E28K|ICAM2_uc010wpx.1_Missense_Mutation_p.E28K	NM_000873	NP_001093259	P13598	ICAM2_HUMAN	Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA.	28					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						ACGTGTACCTCGAATACCTTC	0.582000														47			6		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42529856	42529856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:42529856G>A	uc010dni.3	+	3	847	c.551G>A	c.(550-552)aGg>aAg	p.R184K		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	184						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCTTACGAGAGGCCCCAGAAA	0.483000									Schinzel-Giedion syndrome					38			16		0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56768600	56768600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:56768600C>T	uc003hbe.1	+	17	2586	c.2428C>T	c.(2428-2430)Cgt>Tgt	p.R810C	EXOC1_uc003hbf.1_Missense_Mutation_p.R810C|EXOC1_uc003hbg.1_Missense_Mutation_p.R795C	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	810					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					ACAAGAACTTCGTAAAGTCAT	0.383000														59			29		0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20135715	20135715	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:20135715C>T	uc002gwq.3	+	6	2458	c.2348C>T	c.(2347-2349)cCt>cTt	p.P783L	SPECC1_uc010cqx.3_Missense_Mutation_p.P783L|SPECC1_uc002gwr.3_Missense_Mutation_p.P783L|SPECC1_uc002gws.3_Missense_Mutation_p.P783L|SPECC1_uc002gwv.3_Missense_Mutation_p.P702L|SPECC1_uc010vzf.2_Missense_Mutation_p.P123L|SPECC1_uc002gwu.3_Missense_Mutation_p.P702L|SPECC1_uc002gwt.3_Missense_Mutation_p.P702L	NM_001243439	NP_001230368	Q5M775	CYTSB_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA.	783						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGAGCCGCCCCTCCGTGAGTC	0.612000														7			5		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759414	121759414	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:121759414G>A	uc003ksw.1	+	3	1188	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.E328K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.E375K|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.E328K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	328					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CATTGTTAAAGAAGGACAGAT	0.408000														71			20		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37670762	37670762	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:37670762G>A	uc003chd.3	+	15	1827	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K	ITGA9_uc003chc.3_Missense_Mutation_p.E592K	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	592					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GGAGGAGAGGGAACTGCCGCC	0.517000														31			11		0	0	1	0	0
GSR	2936	broad.mit.edu	37	8	30560722	30560722	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:30560722G>A	uc003xih.2	-	4	662	c.528C>T	c.(526-528)ttC>ttT	p.F176F	GSR_uc022ato.1_Silent_p.F176F|GSR_uc022atp.1_Silent_p.F176F|GSR_uc022atq.1_Silent_p.F176F	NM_000637	NP_000628	P00390	GSHR_HUMAN	Homo sapiens glutathione reductase (GSR), transcript variant 1, mRNA.	176					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	GATCACTCGTGAAGGCTGCAT	0.483000														88			38		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29498068	29498068	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29498068C>T	uc002rmy.3	-	10	2890	c.1938G>A	c.(1936-1938)caG>caA	p.Q646Q		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	646					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTGCTGTATTCTGCAGGATCT	0.488000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					64			20		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103400011	103400012	+	Missense_Mutation	DNP	AC	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:103400011_103400012AC>TA	uc001dum.3	-	45	3947_3948	c.3629_3630GT>TA	c.(3628-3630)ggt>gTA	p.G1210V	COL11A1_uc001duk.3_Missense_Mutation_p.G394V|COL11A1_uc001dul.3_Missense_Mutation_p.G1198V|COL11A1_uc001dun.3_Missense_Mutation_p.G1159V|COL11A1_uc009weh.3_Missense_Mutation_p.G1082V	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1198	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)		TTACCTGAAGACCTATTGGACC	0.455000														66			15		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86124923	86124923	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:86124923C>T	uc002blv.1	+	6	3794	c.3624C>T	c.(3622-3624)gcC>gcT	p.A1208A	AKAP13_uc002blt.1_Silent_p.A1208A|AKAP13_uc002blu.1_Silent_p.A1208A|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1208					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATGATGGGGCCCCAGCTGGTG	0.597000														63			15		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699167	49699167	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49699167G>A	uc003cxe.4	+	5	10003	c.9889G>A	c.(9889-9891)Gat>Aat	p.D3297N		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3297					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGACTCATACGATCCCCGCGG	0.612000														58			23		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40074023	40074023	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:40074023G>A	uc003ayc.3	+	30	4965	c.4965G>A	c.(4963-4965)atG>atA	p.M1655I	CACNA1I_uc003ayd.3_Missense_Mutation_p.M1620I|CACNA1I_uc003aye.3_Missense_Mutation_p.M1570I|CACNA1I_uc003ayf.3_Missense_Mutation_p.M1535I	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1655					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCGAGGGCATGAGCCGGCATG	0.637000														8			3		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113496530	113496530	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113496530G>A	uc022blv.1	+	6	763	c.629_splice	c.e6-1	p.V210_splice	MUSK_uc022blt.1_Splice_Site_p.V210_splice|MUSK_uc004bez.2_Splice_Site_p.V220_splice|MUSK_uc022blu.1_Splice_Site_p.V210_splice	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	210					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CTTCCTAACAGTTTTTGCCAG	0.507000														17			5		0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24989170	24989170	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24989170C>T	uc001bjm.3	+	11	1727	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S	SRRM1_uc010oel.2_Silent_p.S499S|SRRM1_uc009vrh.1_Silent_p.S460S|SRRM1_uc009vri.1_Silent_p.S416S|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	501	Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCCTCCTCCTCAGAAGATG	0.453000														104			14		0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155567726	155567726	+	Silent	SNP	C	T	T	rs139259621		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:155567726C>T	uc010lqk.1	+	17	3872	c.3504C>T	c.(3502-3504)atC>atT	p.I1168I	RBM33_uc003wmg.2_Silent_p.I104I	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	1168	RRM.						RNA binding|nucleotide binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TGGCCCTGATCGTGGAGTGAG	0.502000														42			14		0	0	1	0	0
HTATIP2	10553	broad.mit.edu	37	11	20403763	20403763	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:20403763C>T	uc009yia.1	+	4	547	c.481C>T	c.(481-483)Cgt>Tgt	p.R161C	HTATIP2_uc009yib.1_Missense_Mutation_p.R161C|HTATIP2_uc001mpx.2_Missense_Mutation_p.R195C|HTATIP2_uc001mpz.2_Missense_Mutation_p.R161C	NM_006410	NP_006401	Q9BUP3	HTAI2_HUMAN	Homo sapiens HIV-1 Tat interactive protein 2, 30kDa (HTATIP2), transcript variant 2, mRNA.	161					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity			large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AAAATTTGATCGTTACTCTGT	0.343000														53			25		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48117823	48117823	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:48117823C>T	uc002efc.1	-	27	4336	c.3990G>A	c.(3988-3990)ggG>ggA	p.G1330G	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	1330	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCTATACCTTCCCATTTTCCA	0.483000														84			26		0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93408217	93408217	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:93408217G>A	uc001ybg.3	-	10	1223	c.934C>T	c.(934-936)Ctc>Ttc	p.L312F	ITPK1_uc001ybe.2_Intron|ITPK1_uc001ybf.3_Missense_Mutation_p.L193F|ITPK1_uc001ybh.3_Missense_Mutation_p.L312F	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	Homo sapiens inositol-tetrakisphosphate 1-kinase (ITPK1), transcript variant 1, mRNA.	312	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TGGTTCAGGAGGTCTGTGAAG	0.657000														25			6		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141059121	141059121	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:141059121G>A	uc003llm.3	-	3	767	c.689C>T	c.(688-690)gCt>gTt	p.A230V	ARAP3_uc003lln.3_Missense_Mutation_p.A152V|ARAP3_uc003llo.1_Missense_Mutation_p.A230V	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	230					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCTGTGTTCAGCCCTGCCCTG	0.537000														67			21		0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24776027	24776027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24776027G>A	uc003xed.4	+	2	2692	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K	NEFM_uc011lac.1_Missense_Mutation_p.E669K|NEFM_uc010lue.3_Missense_Mutation_p.E511K	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	887	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGAAGAGCATGAAGAGACCTT	0.423000														105			48		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10357094	10357094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10357094C>T	uc002gmn.3	-	22	2911	c.2800G>A	c.(2800-2802)Gaa>Aaa	p.E934K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	934					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						TTGATCTCTTCCTCATCCTCA	0.443000														247			110		0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110466714	110466714	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110466714C>T	uc001dyu.2	+	5	1884	c.1471C>T	c.(1471-1473)Ccg>Tcg	p.P491S	CSF1_uc001dyt.2_Missense_Mutation_p.P375S|CSF1_uc021ori.1_Missense_Mutation_p.P193S|CSF1_uc001dyw.4_Missense_Mutation_p.P491S|CSF1_uc021orj.1_Missense_Mutation_p.P152S	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	491					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		ATCCTTCAGCCCGCAGCTCCA	0.622000														66			36		0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85992412	85992412	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:85992412C>T	uc001kcz.1	-	3	1165	c.1143G>A	c.(1141-1143)agG>agA	p.R381R		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	381						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GGGGGACATGCCTGGCCACCA	0.607000														25			8		0	0	1	0	0
CRTAM	56253	broad.mit.edu	37	11	122738187	122738187	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:122738187C>T	uc001pyj.3	+	7	888	c.888C>T	c.(886-888)ttC>ttT	p.F296F	CRTAM_uc001pyk.3_Silent_p.F97F	NM_019604	NP_062550	O95727	CRTAM_HUMAN	Homo sapiens cytotoxic and regulatory T cell molecule (CRTAM), mRNA.	296					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TGGTGTCCTTCCTCATTTTCA	0.438000														43			12		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171247961	171247961	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171247961G>A	uc009wvz.3	+	4	714	c.578G>A	c.(577-579)gGa>gAa	p.G193E	FMO1_uc010pme.2_Missense_Mutation_p.G130E|FMO1_uc001ghl.3_Missense_Mutation_p.G193E|FMO1_uc001ghm.3_Missense_Mutation_p.G193E	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	193					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTGGAATGGGAAATTCTGGC	0.433000														54			12		0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101592853	101592853	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:101592853C>T	uc003knm.3	-	7	1722	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	479					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.E479E(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCAAATGGCTCATTTTCACAT	0.328000														56			23		0	0	1	0	0
CD40LG	959	broad.mit.edu	37	X	135732492	135732492	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:135732492G>A	uc004faa.3	+	1	296	c.224G>A	c.(223-225)gGa>gAa	p.G75E	CD40LG_uc010nsd.3_Missense_Mutation_p.G75E|CD40LG_uc010nse.1_Non-coding_Transcript	NM_000074	NP_000065	P29965	CD40L_HUMAN	Homo sapiens CD40 ligand (CD40LG), mRNA.	75					B cell proliferation|anti-apoptosis|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	TGCAACACAGGAGAAAGATCC	0.343000									Immune Deficiency with Hyper-IgM					27			55		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150844496	150844496	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:150844496G>A	uc004fev.4	+	15	2535	c.2203G>A	c.(2203-2205)Gga>Aga	p.G735R		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	735						nucleus	signal transducer activity	p.E734*(1)		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)					AGGAGTCGAGGGACCTCCTGA	0.527000														57			80		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97137245	97137245	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:97137245G>A	uc021rcc.1	+	19	2638	c.2560G>A	c.(2560-2562)Gac>Aac	p.D854N				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	854										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AAGCGCAGGGGACACGGAACT	0.413000														76			34		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467511	74467511	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74467511C>T	uc002axg.1	+	1	594	c.312C>T	c.(310-312)gaC>gaT	p.D104D	ISLR_uc002axh.1_Silent_p.D104D|ISLR_uc021sqf.1_Silent_p.D104D	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	104					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						AGAGCCTGGACCTCAGCCACA	0.607000														64			21		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160862250	160862250	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:160862250G>A	uc002ube.2	-	10	1959	c.1747C>T	c.(1747-1749)Caa>Taa	p.Q583*	PLA2R1_uc010zcp.2_Nonsense_Mutation_p.Q583*|PLA2R1_uc002ubf.3_Nonsense_Mutation_p.Q583*	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	583	C-type lectin 3.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTATCATTTTGGTCCTGAAGA	0.448000														130			9		0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754223	167754223	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:167754223C>T	uc003qvs.1	+	2	923	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	279	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGGGTTGGTTCGGTTTGCCAC	0.398000														119			78		0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92988086	92988086	+	Missense_Mutation	SNP	G	A	A	rs147607028	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:92988086G>A	uc002bra.3	+	4	924	c.769G>A	c.(769-771)Gag>Aag	p.E257K	ST8SIA2_uc002brb.3_Missense_Mutation_p.E236K	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	257					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GTGGGTCAACGAGCTTATCCT	0.642000														75			38		0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62487002	62487002	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62487002G>A	uc002jei.3	-	3	978	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S	POLG2_uc021ubq.1_Missense_Mutation_p.P27S|POLG2_uc010deg.2_Missense_Mutation_p.P294S	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	Homo sapiens polymerase (DNA directed), gamma 2, accessory subunit (POLG2), nuclear gene encoding mitochondrial protein, mRNA.	294					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	p.P294S(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TTTCCCCAGGGAAAATTGTAG	0.398000														71			40		0	0	1	0	0
WDR5	11091	broad.mit.edu	37	9	137007496	137007496	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:137007496C>T	uc004cey.3	+	5	567	c.396C>T	c.(394-396)gtC>gtT	p.V132V	WDR5_uc004cez.3_Silent_p.V132V	NM_017588	NP_438172	P61964	WDR5_HUMAN	Homo sapiens WD repeat domain 5 (WDR5), transcript variant 1, mRNA.	132					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		GTAATTATGTCTTTTGCTGCA	0.468000														74			30		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71148051	71148051	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:71148051C>T	uc001swi.2	-	4	1072	c.658G>A	c.(658-660)Gac>Aac	p.D220N	PTPRR_uc001swh.2_5'UTR|PTPRR_uc009zrs.3_Missense_Mutation_p.D14N|PTPRR_uc010stq.2_Missense_Mutation_p.D108N|PTPRR_uc010str.1_Missense_Mutation_p.D69N	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	220					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CAGATTTTGTCCGCTTCATGC	0.358000														39			19		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2808778	2808778	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2808778G>A	uc022aqr.1	-	65	10449	c.10059C>T	c.(10057-10059)ttC>ttT	p.F3353F	CSMD1_uc011kwj.2_Silent_p.F2668F|CSMD1_uc010lrg.3_Silent_p.F1245F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3354						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGAATTGACGAAAAAGACAT	0.413000														17			6		0	0	1	0	0
TP53TG5	27296	broad.mit.edu	37	20	44004191	44004191	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44004191C>T	uc002xny.3	-	4	336	c.255_splice	c.e4-1	p.G85_splice	SYS1_uc002xnw.2_3'UTR|DBNDD2_uc002xnx.3_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	Homo sapiens TP53 target 5 (TP53TG5), mRNA.	85					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						GCACTGTTTTCCCTGGCAGGG	0.512000														144			52		0	0	1	0	0
RPL4	6124	broad.mit.edu	37	15	66795835	66795836	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:66795835_66795836GG>AA	uc002apv.3	-	1	100_101	c.35_36CC>TT	c.(34-36)tcc>tTT	p.S12F	RPL4_uc002apx.3_5'UTR|RPL4_uc010ujq.2_Missense_Mutation_p.S12F|RPL4_uc010bhs.1_5'Flank|SNORD18B_uc002apy.1_5'Flank|SNORD16_uc010bht.3_5'Flank|SNORD18A_uc002apz.1_5'Flank|ZWILCH_uc010bhu.1_5'Flank|ZWILCH_uc002aqb.3_5'Flank|ZWILCH_uc002aqa.3_5'Flank|ZWILCH_uc010bhv.3_5'Flank	NM_000968	NP_000959	P36578	RL4_HUMAN	Homo sapiens ribosomal protein L4 (RPL4), mRNA.	12					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						CCCCCTTTTCGGAGTACACCGA	0.426000														57			14		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106349677	106349677	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106349677G>A	uc021ser.1	-	3936		c.58751_splice	c.e3936-1							Parts of antibodies, mostly variable regions.																		AGCCCCAGGAGAAGCAGGTGA	0.622000														14			5		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62599145	62599145	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:62599145C>T	uc010ihh.3	+	4	1241	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P	LPHN3_uc003hcq.4_Silent_p.P356P|LPHN3_uc010ihg.1_Silent_p.P424P|LPHN3_uc003hcs.1_Silent_p.P185P	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	356	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGGATGTACCCTTTCCTAATT	0.388000														36			7		0	0	1	0	0
RD3	343035	broad.mit.edu	37	1	211654713	211654713	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:211654713C>T	uc001him.2	-	1	1209	c.45G>A	c.(43-45)cgG>cgA	p.R15R	RD3_uc001hin.2_Silent_p.R15R|RD3_uc009xda.2_Intron	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN	Homo sapiens retinal degeneration 3 (RD3), transcript variant 1, mRNA.	15					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		TGGTGGACAGCCGGGATGGGG	0.622000														72			8		0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7950045	7950045	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7950045G>A	uc010rbh.2	-	0	165	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGGGAACGTGGAGGCTCTGGT	0.473000														117			40		0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44433089	44433089	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44433089G>A	uc001ckx.3	+	18	3511	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K	IPO13_uc001cky.3_Missense_Mutation_p.E124K	NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	906					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GTGGATCAAGGAGGCCCTGCA	0.617000														70			36		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6064099	6064099	+	Silent	SNP	G	A	A	rs149678000	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:6064099G>A	uc010idb.1	-	9	1986	c.1500C>T	c.(1498-1500)cgC>cgT	p.R500R	JAKMIP1_uc010idc.1_Silent_p.R315R|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Silent_p.R500R|JAKMIP1_uc011bwc.2_Silent_p.R335R|JAKMIP1_uc003giv.4_Silent_p.R500R|JAKMIP1_uc010ide.3_Silent_p.R500R	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	500	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGCGTAGGCGCGTTGCAGGG	0.642000														72			26		0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354341	45354341	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:45354341C>T	uc002xsl.3	+	1	763	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	222						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TGGACCTCTTCAGGGCACGCG	0.627000														86			31		0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98351054	98351054	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:98351054G>A	uc002syd.1	+	8	1168	c.961G>A	c.(961-963)Gac>Aac	p.D321N	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.D211N|ZAP70_uc002syf.1_Missense_Mutation_p.D14N	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	321	Interdomain B.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCCCTACAGCGACCCAGAGGA	0.587000														76			26		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505221	37505221	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:37505221G>A	uc021ppc.1	+	31	2913	c.2814G>A	c.(2812-2814)aaG>aaA	p.K938K	ANKRD30A_uc001iza.1_Silent_p.K938K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	994						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATGAAAAAGAAGTTTTGTG	0.338000														75			13		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179720250	179720250	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179720250C>T	uc002une.2	-	18	3002	c.2884G>A	c.(2884-2886)Gaa>Aaa	p.E962K	CCDC141_uc002unf.1_Missense_Mutation_p.E441K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	387							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTAACTTTTTCCATTTTCCTT	0.284000														33			10		0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28788251	28788251	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:28788251C>T	uc002hfb.2	+	17	3609	c.3552C>T	c.(3550-3552)tgC>tgT	p.C1184C	CPD_uc010wbo.2_Silent_p.C937C|CPD_uc010wbp.2_Intron	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	1184	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						ACACAAGCTGCTGTTACTTTC	0.378000														48			34		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111164364	111164364	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:111164364C>T	uc001vqx.3	+	47	5254	c.4965C>T	c.(4963-4965)ttC>ttT	p.F1655F		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1655	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCACACCATTCATCGAATGCA	0.632000														85			29		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38862636	38862636	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38862636G>A	uc021yzh.1	+	58	8852	c.8743G>A	c.(8743-8745)Gac>Aac	p.D2915N	DNAH8_uc003ooe.2_Missense_Mutation_p.D2698N	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGTAATTGCAGACAGGTGCGT	0.398000														16			11		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144869848	144869848	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:144869848C>T	uc003qkt.3	+	45	6760	c.6668C>T	c.(6667-6669)tCg>tTg	p.S2223L		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	2223					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CATCGTACTTCGGAAATTTCA	0.398000														31			21		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	73890	73890	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000209.1:73890C>T	uc002qui.2	+	3	563	c.552C>T	c.(550-552)tcC>tcT	p.S184S	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Silent_p.S181S|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Silent_p.S89S|KIR2DL2_uc010evh.1_Silent_p.S77S|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	89	Ig-like C2-type 2.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										CCATCGGTTCCATGATGCGTG	0.537000														119			75		0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21306909	21306910	+	Missense_Mutation	DNP	GG	AA	AA	rs147841357	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:21306909_21306910GG>AA	uc001bec.3	-	4	498_499	c.242_243CC>TT	c.(241-243)ccc>cTT	p.P81L	EIF4G3_uc010odj.2_Missense_Mutation_p.P81L|EIF4G3_uc009vpz.3_Missense_Mutation_p.P81L|EIF4G3_uc001bef.3_Missense_Mutation_p.P81L|EIF4G3_uc001bee.3_Missense_Mutation_p.P88L|EIF4G3_uc001beg.3_Missense_Mutation_p.P81L|EIF4G3_uc010odk.2_Missense_Mutation_p.P81L|EIF4G3_uc001beh.3_Missense_Mutation_p.P92L	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	81					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ATTGTTGGGGGGGCCCAACATA	0.431000														29			9		0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78445594	78445594	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:78445594C>T	uc002jyp.1	-	3	1173	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	339	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GCCAAGTTCTCGCCACTGCCA	0.632000														49			23		0	0	1	0	0
EFNB1	1947	broad.mit.edu	37	X	68060237	68060237	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:68060237C>T	uc004dxe.2	+	4	1561	c.781C>T	c.(781-783)Cta>Tta	p.L261L	EFNB1_uc004dxd.4_Silent_p.L261L	NM_004429	NP_004420	P98172	EFNB1_HUMAN	Homo sapiens ephrin-B1 (EFNB1), mRNA.	261					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CCTGACGGTCCTACTACTGAA	0.622000														11			12		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130222677	130222677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:130222677C>T	uc004evz.3	+	11	1907	c.1562C>T	c.(1561-1563)cCc>cTc	p.P521L	ARHGAP36_uc004ewa.3_Missense_Mutation_p.P509L|ARHGAP36_uc004ewb.3_Missense_Mutation_p.P490L|ARHGAP36_uc004ewc.3_Missense_Mutation_p.P385L	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	521					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.P520H(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGTAACCCTCCCATTCCGGAG	0.527000														12			20		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15806999	15806999	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15806999G>A	uc002nbl.3	+	10	1397	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ATATTATAGGGGTCCATCACA	0.552000														106			40		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283541	159283541	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159283541C>T	uc010piu.2	-	0	909	c.909G>A	c.(907-909)caG>caA	p.Q303Q		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CCCCACGGCTCTGTGCAGAGC	0.433000														82			39		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6520098	6520098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6520098G>A	uc001amy.3	+	12	2625	c.2457G>A	c.(2455-2457)cgG>cgA	p.R819R	ESPN_uc001amz.3_Silent_p.R253R	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	819	Glu-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTGCGGCGGGAGAAGGAAC	0.637000														29			14		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282624	152282624	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152282624C>T	uc001ezu.1	-	2	4774	c.4738G>A	c.(4738-4740)Gaa>Aaa	p.E1580K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1580	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1579fs*16(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGCTGATTCTCCCTGGCCC	0.597000									Ichthyosis					261			127		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247607363	247607363	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247607363G>A	uc001icr.3	+	8	2897	c.2759G>A	c.(2758-2760)cGa>cAa	p.R920Q	NLRP3_uc001ics.3_Missense_Mutation_p.R863Q|NLRP3_uc001icu.3_Missense_Mutation_p.R920Q|NLRP3_uc001icw.3_Missense_Mutation_p.R863Q|NLRP3_uc001icv.3_Missense_Mutation_p.R806Q|NLRP3_uc010pyw.2_Missense_Mutation_p.R898Q	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	920					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L919V(1)|p.R920*(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTTTACCTGCGAGGCAACACT	0.493000														62			22		0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642706	1642706	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1642706G>A	uc009ycy.1	-	2	600	c.513C>T	c.(511-513)tcC>tcT	p.S171S	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	266	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCAGCAACTGGACTGGCAGC	0.597000														144			74		0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29837927	29837927	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:29837927C>T	uc003afn.3	+	1	979	c.770C>T	c.(769-771)tCc>tTc	p.S257F	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	257	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CAGAACGTTTCCTTTTTTGAT	0.507000														97			35		0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94341758	94341758	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:94341758C>T	uc001pfa.3	+	14	2060	c.1849C>T	c.(1849-1851)Ctg>Ttg	p.L617L	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	617	Piwi.				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)				GTTAAAGTCCCTGATGGTGGT	0.403000														183			18		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41725620	41725620	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41725620C>T	uc002yyq.1	-	4	1158	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	236	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCAGCCATGGCTTTGCGATGG	0.547000														22			14		0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159921563	159921563	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159921563C>T	uc001fus.3	-	3	875	c.758G>A	c.(757-759)gGa>gAa	p.G253E	SLAMF9_uc009wtd.3_Missense_Mutation_p.G162E|SLAMF9_uc001fut.3_3'UTR	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	253						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACCCAGAGTCCCATGGCCAG	0.488000														102			48		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168812899	168812899	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:168812899C>T	uc011bpj.1	-	12	3387	c.2984G>A	c.(2983-2985)aGa>aAa	p.R995K	MECOM_uc010hwk.1_Missense_Mutation_p.R821K|MECOM_uc003ffj.3_Missense_Mutation_p.R872K|MECOM_uc003ffi.3_Missense_Mutation_p.R807K|MECOM_uc011bpi.1_Missense_Mutation_p.R799K|MECOM_uc003ffn.3_Missense_Mutation_p.R807K|MECOM_uc003ffk.2_Missense_Mutation_p.R798K|MECOM_uc003ffl.2_Missense_Mutation_p.R958K|MECOM_uc011bpk.1_Missense_Mutation_p.R807K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTTTAGGTGTCTGTCTAAATT	0.343000														44			13		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57476429	57476430	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57476429_57476430GG>AA	uc009vzx.1	-	13	1926_1927	c.1606_1607CC>TT	c.(1606-1608)cca>TTa	p.P536L	DAB1_uc001cyt.1_Missense_Mutation_p.P534L|DAB1_uc001cyq.1_Missense_Mutation_p.P534L|DAB1_uc001cyr.1_Missense_Mutation_p.P450L|DAB1_uc009vzw.1_Missense_Mutation_p.P518L|DAB1_uc001cys.1_Missense_Mutation_p.P536L	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	569					cell differentiation|nervous system development			p.D535N(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTCACCAAATGGATCACTGTTG	0.441000														84			32		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124359953	124359953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124359953C>T	uc001uft.4	+	45	7785	c.7760C>T	c.(7759-7761)tCg>tTg	p.S2587L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2587	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1179L(1)|p.S2587L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGATTTATTTCGCTATTCAGT	0.443000														50			14		0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105842748	105842748	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:105842748G>A	uc001pix.2	+	14	2848	c.2402G>A	c.(2401-2403)gGa>gAa	p.G801E	GRIA4_uc001piw.2_Intron|GRIA4_uc010rvm.1_Non-coding_Transcript|GRIA4_uc009yxl.1_Intron	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	801					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AAGGACTCTGGAAGCAAGGTC	0.458000														57			20		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38884057	38884057	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38884057G>A	uc003jln.2	+	4	949	c.547G>A	c.(547-549)Ggg>Agg	p.G183R	OSMR_uc003jlm.2_Missense_Mutation_p.G183R	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	183					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTATTTGGAAGGGAAACAGAT	0.363000														106			28		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189869062	189869062	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189869062G>A	uc002uqj.1	+	39	3020	c.2903G>A	c.(2902-2904)aGg>aAg	p.R968K		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	968	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCAGGTCCTAGGGGAAGCCCT	0.522000														7			3		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47786986	47786986	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:47786986C>T	uc002zji.4	+	14	3204	c.3097C>T	c.(3097-3099)Cac>Tac	p.H1033Y	PCNT_uc002zjj.3_Missense_Mutation_p.H915Y	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1033					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGTGCGGGACCACCTGCGAAC	0.587000														81			28		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634267	70634267	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70634267C>T	uc001xly.3	-	1	1627	c.873G>A	c.(871-873)atG>atA	p.M291I	SLC8A3_uc001xlw.3_Missense_Mutation_p.M291I|SLC8A3_uc001xlx.3_Missense_Mutation_p.M291I|SLC8A3_uc001xlz.3_Missense_Mutation_p.M291I|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	291					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGGAATTCATCATTTTCCCAT	0.478000														45			28		0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191051	6191051	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6191051G>A	uc010qzy.2	-	0	506	c.506C>T	c.(505-507)cCc>cTc	p.P169L		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGGCAGAAGGGCAGCCGCTT	0.502000														36			4		0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147131157	147131157	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:147131157C>T	uc003ewe.3	+	2	1882	c.1163C>T	c.(1162-1164)tCg>tTg	p.S388L		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	388	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GAATCCTCCTCGCAGGGCTCG	0.627000														88			29		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196774900	196774900	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196774900G>A	uc002utj.4	-	24	4056	c.3955C>T	c.(3955-3957)Cat>Tat	p.H1319Y		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1319	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGTGCAAATGAAGGGCTCCA	0.398000														25			9		0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111154921	111154921	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:111154921C>T	uc001plc.3	+	2	275	c.128C>T	c.(127-129)cCc>cTc	p.P43L		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	43										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		AAGCCGTTTCCCTGTGAGTCC	0.572000														175			62		0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160969689	160969689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160969689G>A	uc009wtt.3	-	5	941	c.671C>T	c.(670-672)tCa>tTa	p.S224L	F11R_uc010pjv.2_Missense_Mutation_p.S175L|F11R_uc010pjw.2_Missense_Mutation_p.S228L|F11R_uc001fxf.4_Missense_Mutation_p.S224L	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	Homo sapiens F11 receptor (F11R), mRNA.	224	Ig-like V-type 2.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CACAGCATTTGAAGTCATGGG	0.517000														73			21		0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7022292	7022292	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7022292C>T	uc009yfh.1	-	2	921	c.622G>A	c.(622-624)Gac>Aac	p.D208N	ZNF214_uc001mfa.2_Missense_Mutation_p.D208N|ZNF214_uc010ray.1_Missense_Mutation_p.D208N	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CTCAGTAGGTCTTCTTGACAT	0.388000														85			19		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155198856	155198856	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:155198856G>A	uc021xge.1	-	22	5260	c.4983C>T	c.(4981-4983)caC>caT	p.H1661H	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.H1623H	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1661					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CGTGGCCATAGTGAAGAGCCG	0.507000														28			24		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87025895	87025895	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:87025895C>T	uc009wcs.3	+	3	345	c.301_splice	c.e3-1	p.A101_splice	CLCA4_uc009wct.3_Splice_Site|CLCA4_uc009wcu.3_Intron	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	101						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			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)		CATTCTCAGGCTGATGTTATA	0.353000														81			31		0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205554035	205554035	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205554035G>A	uc001hcv.4	+	4	977	c.891G>A	c.(889-891)agG>agA	p.R297R	MFSD4_uc010prk.2_Silent_p.R210R|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.R242R	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	297					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCTGCCAAAGGAAGAACCTCA	0.587000											OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		138			50		0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147929808	147929808	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:147929808C>T	uc021yfj.1	-	1	91	c.44G>A	c.(43-45)gGg>gAg	p.G15E	HTR4_uc021yfg.1_Missense_Mutation_p.G15E|HTR4_uc021yfh.1_Missense_Mutation_p.G15E|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Missense_Mutation_p.G15E|HTR4_uc011dby.1_Missense_Mutation_p.G15E|HTR4_uc003lpn.3_Missense_Mutation_p.G15E|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Missense_Mutation_p.G15E|SH3TC2_uc003lpp.1_Non-coding_Transcript	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	15					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CTCCACTGACCCGAAACCCTC	0.498000														59			19		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35792664	35792664	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35792664C>T	uc003zyd.3	+	0	259	c.259C>T	c.(259-261)Ctc>Ttc	p.L87F	NPR2_uc010mlb.3_Missense_Mutation_p.L87F	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	87					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CGCTGTGGACCTCAAGCTGTA	0.662000														101			34		0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25284783	25284783	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:25284783C>T	uc001isg.1	-	2	404	c.239G>A	c.(238-240)cGg>cAg	p.R80Q	ENKUR_uc001ish.1_Missense_Mutation_p.R18Q	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	Homo sapiens enkurin, TRPC channel interacting protein (ENKUR), mRNA.	80						cilium|flagellum	SH3 domain binding|calmodulin binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						GGGCACGTTCCGATCAAAGTT	0.333000														133			13		0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55266666	55266666	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55266666G>A	uc009vzt.1	-	0	276	c.171C>T	c.(169-171)ctC>ctT	p.L57L	TTC22_uc001cxz.4_Silent_p.L57L	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	Homo sapiens tetratricopeptide repeat domain 22 (TTC22), transcript variant 1, mRNA.	57							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						CCGCCAGCTGGAGCTCCTGCC	0.701000														17			11		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17375071	17375071	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17375071C>T	uc002nfs.1	-	1	151	c.38G>A	c.(37-39)gGg>gAg	p.G13E	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_5'UTR|USHBP1_uc010eam.1_5'UTR	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	13							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						AGCATGCCTCCCTCGCCGGCT	0.657000														23			11		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56088753	56088753	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56088753C>T	uc001shh.3	-	15	2236	c.2016_splice	c.e15-1	p.M672_splice	ITGA7_uc001shg.3_Splice_Site_p.M668_splice|ITGA7_uc010sps.2_Splice_Site_p.M575_splice|ITGA7_uc009znw.3_Intron|ITGA7_uc009znx.3_Splice_Site_p.M549_splice	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	712					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCATCCACATCCCTGGAGAGT	0.612000														29			14		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130507048	130507048	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130507048C>T	uc004bsc.3	-	6	1737	c.1595G>A	c.(1594-1596)gGg>gAg	p.G532E	SH2D3C_uc010mxo.3_Missense_Mutation_p.G372E|SH2D3C_uc004bry.3_Missense_Mutation_p.G374E|SH2D3C_uc004brz.4_Missense_Mutation_p.G178E|SH2D3C_uc011mak.2_Missense_Mutation_p.G178E|SH2D3C_uc004bsb.3_Missense_Mutation_p.G464E|SH2D3C_uc004bsa.3_Missense_Mutation_p.G375E	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	532					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCAGGGGCCCCATTTTCTGA	0.612000														255			34		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155254414	155254414	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155254414G>A	uc003inw.2	-	8	1449	c.1449C>T	c.(1447-1449)acC>acT	p.T483T	DCHS2_uc003inx.2_Silent_p.T982T	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	483	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCTCATCCGAGGTCCTGAGGA	0.607000														64			29		0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58342389	58342389	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:58342389C>T	uc002yau.3	+	4	1157	c.690C>T	c.(688-690)agC>agT	p.S230S	PHACTR3_uc002yat.3_Silent_p.S227S|PHACTR3_uc010zzw.2_Silent_p.S189S|PHACTR3_uc002yav.3_Silent_p.S189S|PHACTR3_uc002yaw.3_Silent_p.S189S|PHACTR3_uc002yax.3_Intron	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	230	Pro-rich.					nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.P229T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AGCTCCCCAGCCCCCCACTGC	0.592000														38			19		0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714447	65714447	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65714447G>A	uc001ogk.1	+	2	273	c.241G>A	c.(241-243)Ggc>Agc	p.G81S	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	82										endometrium(2)|kidney(3)|lung(9)	14						CAAGCCCAGGGGCCAGAGCAA	0.612000														71			29		0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58342391	58342391	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:58342391C>T	uc002yau.3	+	4	1159	c.692C>T	c.(691-693)cCc>cTc	p.P231L	PHACTR3_uc002yat.3_Missense_Mutation_p.P228L|PHACTR3_uc010zzw.2_Missense_Mutation_p.P190L|PHACTR3_uc002yav.3_Missense_Mutation_p.P190L|PHACTR3_uc002yaw.3_Missense_Mutation_p.P190L|PHACTR3_uc002yax.3_Intron	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	231	Pro-rich.					nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTCCCCAGCCCCCCACTGCTG	0.592000														38			18		0	0	1	0	0
HIPK3	10114	broad.mit.edu	37	11	33374802	33374802	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:33374802C>T	uc001mul.1	+	16	3606	c.3336C>T	c.(3334-3336)ctC>ctT	p.L1112L	HIPK3_uc001mum.1_Silent_p.L1091L|HIPK3_uc009yjv.1_Silent_p.L1091L	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	1112					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						ATACACACCTCGGAGGACAGC	0.507000														87			16		0	0	1	0	0
WNT6	7475	broad.mit.edu	37	2	219738374	219738374	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219738374C>T	uc002vjc.1	+	3	1120	c.905C>T	c.(904-906)tCc>tTc	p.S302F		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 6 (WNT6), mRNA.	302					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCACCGGCTCCCCCGGCACG	0.761000														18			9		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23830128	23830128	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:23830128C>T	uc003gqs.3	-	4	772	c.652G>A	c.(652-654)Gat>Aat	p.D218N	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	218					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGAGGGTCATCGTTTGTGGTC	0.468000														170			54		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118469492	118469492	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:118469492C>T	uc010jcl.1	+	11	2054	c.1873C>T	c.(1873-1875)Ctc>Ttc	p.L625F	DMXL1_uc003ksd.2_Missense_Mutation_p.L625F|DMXL1_uc021ycw.1_Missense_Mutation_p.L452F|DMXL1_uc003ksc.1_Missense_Mutation_p.L625F	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	625										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTCTACTGTTCTCAGTATTTC	0.378000														147			25		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144467	55144467	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55144467G>A	uc002qgj.3	+	8	1299	c.959_splice	c.e8-1	p.G320_splice	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Splice_Site_p.G320_splice|LILRB1_uc002qgk.3_Splice_Site_p.G320_splice|LILRB1_uc002qgm.3_Splice_Site_p.G320_splice|LILRB1_uc010erq.3_Splice_Site_p.G320_splice|LILRB1_uc010err.3_Splice_Site	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.	320	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			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)		TTCTCTCCAGGACAGTTCTAT	0.607000										HNSCC(37;0.09)				87			14		0	0	1	0	0
GNG7	2788	broad.mit.edu	37	19	2515055	2515055	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:2515055G>A	uc002lwd.2	-	4	409	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_052847	NP_443079	O60262	GBG7_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 7 (GNG7), mRNA.	58					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			central_nervous_system(2)|large_intestine(1)	3		Hepatocellular(1079;0.137)		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)		TCCTTAAAGGGGTTCTCCGAG	0.493000														96			34		0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27218585	27218585	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:27218585G>A	uc003nja.3	+	5	606	c.591_splice	c.e5+1	p.K197_splice	PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Intron|PRSS16_uc010jqq.1_Splice_Site_p.K87_splice|PRSS16_uc010jqr.1_Splice_Site_p.K87_splice|PRSS16_uc003njd.3_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	197					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCCGGCTGAAGGTCCTGCGAC	0.652000														43			15		0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93179168	93179168	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:93179168G>A	uc001yav.3	-	8	953	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L	LGMN_uc001yat.3_Silent_p.L198L|LGMN_uc001yau.3_Silent_p.L198L|LGMN_uc001yaw.3_Silent_p.L198L	NM_001008530	NP_005597	Q99538	LGMN_HUMAN	Homo sapiens legumain (LGMN), transcript variant 2, mRNA.	198					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TTATCCGGCAGGTGGTTCATC	0.592000														30			6		0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990859	39990859	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:39990859C>T	uc002xjy.1	-	3	1574	c.1350G>A	c.(1348-1350)agG>agA	p.R450R		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	450						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GACAGCATCCCCTTGCTCCAC	0.632000														111			66		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61310809	61310809	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61310809C>T	uc002ljf.3	-	1	89	c.3G>A	c.(1-3)atG>atA	p.M1I	SERPINB3_uc002lje.3_Missense_Mutation_p.M1I|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	1					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGAGTGAATTCATGGTGAACT	0.373000														194			46		0	0	1	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74364582	74364582	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74364582C>T	uc002axa.1	-	13	1611	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	DQ572823_uc010ulg.2_5'Flank|DQ582073_uc021sqc.1_5'Flank	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA.	524										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						CTCTCCAGGTCCTCTGGGATG	0.627000														176			10		0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5331432	5331432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:5331432C>T	uc003sod.3	+	4	685	c.524C>T	c.(523-525)aCc>aTc	p.T175I	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Missense_Mutation_p.T175I|SLC29A4_uc003soe.3_Missense_Mutation_p.P163S	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	175					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCTGTGGGCACCGTGGCCTTC	0.647000														82			11		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013074	99013074	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:99013074C>T	uc010fij.3	+	7	1594	c.1453C>T	c.(1453-1455)Cgc>Tgc	p.R485C	CNGA3_uc002syt.3_Missense_Mutation_p.R481C|CNGA3_uc002syu.3_Missense_Mutation_p.R463C			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	481			D -> V (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GAAGAAGGTTCGCATCTTCCA	0.567000														22			13		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18331249	18331249	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18331249C>T	uc010xqc.2	-	5	1152	c.672G>A	c.(670-672)caG>caA	p.Q224Q	PDE4C_uc002nik.4_Silent_p.Q224Q|PDE4C_uc002nil.4_Silent_p.Q224Q|PDE4C_uc002nig.4_Intron|PDE4C_uc002nih.4_Intron|PDE4C_uc010ebk.3_Silent_p.Q118Q|PDE4C_uc002nii.4_Silent_p.Q192Q|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_Non-coding_Transcript|PDE4C_uc002nim.1_Missense_Mutation_p.D208N	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	224					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	AGTGCCGGGTCTGCAGCGTCT	0.652000														41			16		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766120	77766120	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:77766120C>T	uc003yau.2	+	9	7350	c.6963C>T	c.(6961-6963)ttC>ttT	p.F2321F	ZFHX4_uc003yaw.1_Silent_p.F2276F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2276						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)			ATGTGGTTTTCCCCAGGATCT	0.393000										HNSCC(33;0.089)				41			20		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94946066	94946066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94946066C>T	uc003uns.3	-	2	278	c.181G>A	c.(181-183)Gga>Aga	p.G61R	PON1_uc011kih.2_Missense_Mutation_p.G61R	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	61					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	AAAGCCAGTCCATTAGGCAGT	0.403000														148			35		0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93185157	93185157	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:93185157G>A	uc001yav.3	-	3	532	c.171C>T	c.(169-171)caC>caT	p.H57H	LGMN_uc001yat.3_Silent_p.H57H|LGMN_uc001yau.3_Silent_p.H57H|LGMN_uc001yaw.3_Silent_p.H57H	NM_001008530	NP_005597	Q99538	LGMN_HUMAN	Homo sapiens legumain (LGMN), transcript variant 2, mRNA.	57					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TCCCATTGCGGTGAATGATCT	0.483000														81			27		0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6533066	6533066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6533066C>T	uc001anp.1	-	9	1693	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	PLEKHG5_uc001ann.1_Missense_Mutation_p.E359K|PLEKHG5_uc001ano.1_Missense_Mutation_p.E378K|PLEKHG5_uc001anq.1_Missense_Mutation_p.E399K|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_Missense_Mutation_p.E162K|PLEKHG5_uc010nzr.1_Missense_Mutation_p.E391K|PLEKHG5_uc001ank.1_Missense_Mutation_p.E322K|PLEKHG5_uc009vmb.1_Missense_Mutation_p.E322K|PLEKHG5_uc001anl.1_Missense_Mutation_p.E322K|PLEKHG5_uc001anm.1_Missense_Mutation_p.E322K	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	378	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCAATGAGCTCCCGCCAGCTG	0.627000														48			13		0	0	1	0	0
SFTPA1	653509	broad.mit.edu	37	10	81373758	81373758	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81373758C>T	uc009xry.3	+	5	763	c.681C>T	c.(679-681)taC>taT	p.Y227Y	SFTPA1_uc001kap.3_Silent_p.Y212Y|SFTPA1_uc001kar.3_Silent_p.Y212Y|SFTPA1_uc001kaq.3_Silent_p.Y212Y|SFTPA1_uc001kao.3_Silent_p.Y178Y|SFTPA1_uc021puu.1_Silent_p.Y163Y|SFTPA1_uc010qlt.2_Silent_p.Y153Y|SFTPA1_uc009xrz.3_Silent_p.Y142Y	NM_001093770	NP_005402	Q8IWL2	SFTA1_HUMAN	Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA.	212	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CCAACTGGTACCGAGGGGAGC	0.557000														191			95		0	0	1	0	0
CDCA8	55143	broad.mit.edu	37	1	38173996	38173996	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:38173996C>T	uc001cbr.3	+	10	908	c.801C>T	c.(799-801)aaC>aaT	p.N267N	CDCA8_uc001cbs.3_Silent_p.N267N	NM_018101	NP_060571	Q53HL2	BOREA_HUMAN	Homo sapiens cell division cycle associated 8 (CDCA8), mRNA.	267					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTTTTTAGAACCGTCTCGCCC	0.507000														59			24		0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826110	34826110	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:34826110C>T	uc003oju.4	+	13	2211	c.1977C>T	c.(1975-1977)agC>agT	p.S659S	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	659								p.F658F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GTGGCTTTAGCCTTCTGCACA	0.493000														123			48		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871098	51871098	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:51871098C>T	uc002xwo.3	+	1	1988	c.1101C>T	c.(1099-1101)agC>agT	p.S367S	TSHZ2_uc021wex.1_Silent_p.S364S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	367					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ATGGAGCCAGCTACACCTGGC	0.502000														73			30		0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63538522	63538522	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:63538522G>A	uc011kdm.2	+	3	1274	c.1095G>A	c.(1093-1095)ttG>ttA	p.L365L		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L365F(2)		endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						ATATGGAATTGAGACCTTACA	0.393000														22			12		0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5072529	5072529	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:5072529T>C	uc010mhm.3	+	11	1792	c.1679T>C	c.(1678-1680)tTt>tCt	p.F560S	JAK2_uc003ziw.3_Missense_Mutation_p.F560S	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	560	Protein kinase 1.				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ACAAAGATTTTTAAAGGCGTA	0.373000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial					53			25		0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18276413	18276413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:18276413G>A	uc001ipo.2	+	6	1375	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S	SLC39A12_uc001ipn.2_Missense_Mutation_p.G368S|SLC39A12_uc001ipp.2_Missense_Mutation_p.G368S|SLC39A12_uc010qck.1_Missense_Mutation_p.G234S	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	368					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CTTAGAATACGGCTACAGCAC	0.522000														49			26		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442346	138442346	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:138442346G>A	uc003ihe.4	-	3	3632	c.3245C>T	c.(3244-3246)tCt>tTt	p.S1082F	PCDH18_uc003ihf.4_Missense_Mutation_p.S1074F|PCDH18_uc011cgz.2_Missense_Mutation_p.S293F|PCDH18_uc003ihg.4_Missense_Mutation_p.S861F|PCDH18_uc011cha.2_Missense_Mutation_p.S262F	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	1082	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCATTTTGAAGAAGGCTGCAC	0.512000														32			15		0	0	1	0	0
KLC4	89953	broad.mit.edu	37	6	43039079	43039079	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43039079C>T	uc003otw.1	+	8	1595	c.1276C>T	c.(1276-1278)Cgt>Tgt	p.R426C	KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otv.1_Missense_Mutation_p.R408C|KLC4_uc011dvd.1_Missense_Mutation_p.R331C|KLC4_uc003otx.1_Missense_Mutation_p.R408C|KLC4_uc003oty.1_Missense_Mutation_p.R408C|KLC4_uc003otz.1_Missense_Mutation_p.R408C	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	408						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	p.W425C(1)		endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GATCCTGACCCGTGCCCATGT	0.512000														43			16		0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133502261	133502261	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:133502261C>T	uc003vrk.3	+	10	1733	c.1698C>T	c.(1696-1698)acC>acT	p.T566T	EXOC4_uc011kpo.2_Silent_p.T465T|EXOC4_uc003vrl.3_Silent_p.T176T|EXOC4_uc011kpp.2_Silent_p.T98T	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	566					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ACGCAGACACCATGAAGGTGC	0.413000														45			9		0	0	1	0	0
GLT8D2	83468	broad.mit.edu	37	12	104387281	104387281	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:104387281C>T	uc001tkh.1	-	10	1325	c.768_splice	c.e10-1	p.E256_splice	GLT8D2_uc001tki.1_Splice_Site_p.E256_splice	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	256						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TAGAGGTTTTCCCTAAGAAAT	0.438000														25			9		0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88482261	88482261	+	Silent	SNP	C	T	T	rs148640386		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:88482261C>T	uc002ssy.4	+	4	2537	c.846C>T	c.(844-846)gtC>gtT	p.V282V	THNSL2_uc002ssw.4_Silent_p.V282V|THNSL2_uc002sta.4_Silent_p.V124V|THNSL2_uc010fhe.3_Silent_p.V124V|THNSL2_uc021vkr.1_Silent_p.V282V	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	282					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TCCGTCTGGTCGTGGCAGTGA	0.463000														63			15		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118147569	118147569	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:118147569G>A	uc003yoh.3	+	0	233	c.3G>A	c.(1-3)atG>atA	p.M1I	SLC30A8_uc010mcz.3_Intron|SLC30A8_uc003yog.3_5'UTR|SLC30A8_uc011lia.2_5'UTR|SLC30A8_uc022bab.1_5'UTR	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	1					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.M1I(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)			TGGCCGTCATGGAGTTTCTTG	0.413000														135			46		0	0	1	0	0
EMID2	136227	broad.mit.edu	37	7	101188637	101188637	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:101188637G>A	uc010lhy.1	+	6	908	c.716G>A	c.(715-717)gGg>gAg	p.G239E	EMID2_uc003uyo.1_Missense_Mutation_p.G241E	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	Homo sapiens EMI domain containing 2 (EMID2), mRNA.	241	Collagen-like 1.					collagen				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	18	Lung NSC(181;0.215)					GGGCCTCCAGGGCCCCGTGGG	0.687000														19			15		0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41151040	41151040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41151040C>T	uc002yyo.3	+	4	845	c.742C>T	c.(742-744)Cca>Tca	p.P248S		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	248						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TATTAATATTCCAGGTGTATT	0.408000														112			25		0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84075595	84075595	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84075595G>A	uc002fhg.1	-	0	168	c.168C>T	c.(166-168)gtC>gtT	p.V56V		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	56					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGAAGGCAGGGACCACTCCGC	0.622000														111			52		0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31672723	31672723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31672723C>T	uc010zue.2	+	3	718	c.703C>T	c.(703-705)Cct>Tct	p.P235S		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	235						cytoplasm|extracellular region	lipid binding										GCTGACCCTCCCTCGGGTGTC	0.667000														16			15		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951748	119951748	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:119951748C>T	uc010inb.3	+	3	2014	c.1818C>T	c.(1816-1818)acC>acT	p.T606T	SYNPO2_uc010ina.3_Silent_p.T606T|SYNPO2_uc003icm.4_Silent_p.T606T|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Silent_p.T534T|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	606	Pro-rich.					Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCTCGCCAACCCGAAACATGA	0.557000														135			33		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218274	130218274	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:130218274C>A	uc004evz.3	+	4	986	c.641C>A	c.(640-642)cCa>cAa	p.P214Q	ARHGAP36_uc004ewa.3_Missense_Mutation_p.P202Q|ARHGAP36_uc004ewb.3_Missense_Mutation_p.P183Q|ARHGAP36_uc004ewc.3_Missense_Mutation_p.P78Q	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	214					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ATTTCCTTTCCAATTGGCCAA	0.498000														38			4		0.00909568	0.00909857	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140251067	140251067	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140251067T>C	uc003lia.2	+	0	3237	c.2379T>C	c.(2377-2379)aaT>aaC	p.N793N	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_uc011dae.2_Silent_p.N793N	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	836					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)			CAGGGTCAAATCACCCCGGAC	0.463000														15			3		0	0	1	0	0
FGF20	26281	broad.mit.edu	37	8	16850716	16850716	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:16850716C>T	uc003wxc.1	-	2	634	c.501G>A	c.(499-501)gtG>gtA	p.V167V	FGF20_uc010lsw.1_3'UTR	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN	Homo sapiens fibroblast growth factor 20 (FGF20), mRNA.	167					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGTTAAGTGCCACAAAATACC	0.433000														177			22		0	0	1	0	0
TMEM163	81615	broad.mit.edu	37	2	135260556	135260556	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:135260556G>A	uc002ttx.3	-	4	537	c.471C>T	c.(469-471)atC>atT	p.I157I	TMEM163_uc002tty.3_Intron	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	Homo sapiens transmembrane protein 163 (TMEM163), mRNA.	157						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		TCACCCCCAAGATGACACAGG	0.443000														18			12		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72146759	72146759	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72146759G>A	uc002atl.4	-	34	6778	c.6305C>T	c.(6304-6306)tCg>tTg	p.S2102L	MYO9A_uc002atk.3_Missense_Mutation_p.S897L	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	2102	Rho-GAP.|Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTATTAGTCGAACCAGACTT	0.363000														259			83		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940841	22940841	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22940841C>T	uc021urt.1	-	3	2025	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCACATTCTTCACATTTGTAG	0.383000														80			18		0	0	1	0	0
SLC25A19	60386	broad.mit.edu	37	17	73282450	73282450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73282450G>A	uc002jns.4	-	1	1133	c.223C>T	c.(223-225)Ccg>Tcg	p.P75S	SLC25A19_uc010dge.3_Missense_Mutation_p.P75S|SLC25A19_uc002jnv.4_Missense_Mutation_p.P75S|SLC25A19_uc002jnu.4_Missense_Mutation_p.P75S|SLC25A19_uc002jnw.4_Missense_Mutation_p.P75S|SLC25A19_uc002jnt.4_Missense_Mutation_p.P75S	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 (SLC25A19), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	75						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			AAAGCTGTCGGACCCTCCTCC	0.577000														99			35		0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131733085	131733085	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131733085C>T	uc004bws.1	+	10	983	c.961C>T	c.(961-963)Cca>Tca	p.P321S		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	321					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACATCATGCCCCAGTGCTTTT	0.483000														79			27		0	0	1	0	0
CRYGC	1420	broad.mit.edu	37	2	208993030	208993031	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:208993030_208993031CC>TT	uc002vco.4	-	2	459_460	c.421_422GG>AA	c.(421-423)ggg>AAg	p.G141K	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_020989	NP_066269	P07315	CRGC_HUMAN	Homo sapiens crystallin, gamma C (CRYGC), mRNA.	141	Beta/gamma crystallin 'Greek key' 4.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTATTGCCGCCCCCGGTAGTTG	0.629000														87			37		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112758801	112758801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:112758801C>T	uc002thk.1	+	10	1750	c.1628C>T	c.(1627-1629)tCt>tTt	p.S543F	MERTK_uc002thl.1_Missense_Mutation_p.S367F	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	543					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GAGGAGGATTCTGAATTAGTG	0.403000														51			33		0	0	1	0	0
CTAGE6P	340307	broad.mit.edu	37	7	143453470	143453470	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143453470C>T	uc003wdk.4	-	0	1374	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	FAM115C_uc011ktn.1_Intron|FAM115C_uc011kto.2_Intron|FAM115C_uc011ktp.2_Intron|FAM115C_uc011ktq.1_Intron|FAM115C_uc011ktr.1_Intron|FAM115C_uc011kts.1_Intron|FAM115C_uc003wdj.1_Intron	NM_178561	NP_848656	Q86UF2	CTGE6_HUMAN	Homo sapiens CTAGE family, member 6, pseudogene (CTAGE6P), mRNA.	428						integral to membrane											TCCAGCTGTTCAGTGGCACGG	0.383000														325			41		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17768936	17768936	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17768936G>A	uc021uqk.1	-	8	744	c.702C>T	c.(700-702)ggC>ggT	p.G234G		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	234					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ACTCCCGGGAGCCCAGGGGTG	0.582000														28			10		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862573	14862573	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:14862573G>A	uc003bzc.3	+	0	2105	c.1995G>A	c.(1993-1995)acG>acA	p.T665T	FGD5_uc011avk.2_Silent_p.T665T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	665					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGAAGAAGACGGAGAACAAAT	0.512000														57			9		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3740730	3740730	+	Silent	SNP	C	T	T	rs139746746	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3740730C>T	uc010xhv.2	+	12	1911	c.1911C>T	c.(1909-1911)taC>taT	p.Y637Y	TJP3_uc010xhs.2_Silent_p.Y604Y|TJP3_uc010xht.2_Silent_p.Y568Y|TJP3_uc010xhu.2_Silent_p.Y613Y|TJP3_uc010xhw.2_Silent_p.Y623Y	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	618	Guanylate kinase-like.					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)		AGGGCCGCTACCCGCCCTACG	0.667000														32			12		0	0	1	0	0
S1PR5	53637	broad.mit.edu	37	19	10625613	10625613	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10625613G>A	uc021uox.1	-	0	75	c.75C>T	c.(73-75)ctC>ctT	p.L25L	S1PR5_uc002mot.2_Silent_p.L25L|S1PR5_uc002mou.2_Silent_p.L25L	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 5 (S1PR5), transcript variant 1, mRNA.	25						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						GCGCACCGCGGAGCTTGCCGG	0.692000														56			17		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48451735	48451736	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48451735_48451736GG>AA	uc003csw.2	-	30	5844_5845	c.5574_5575CC>TT	c.(5572-5577)ctccgg>ctTTgg	p.R1859W	PLXNB1_uc003cst.2_Missense_Mutation_p.R309W|PLXNB1_uc003csu.2_Missense_Mutation_p.R1676W|PLXNB1_uc003csx.2_Missense_Mutation_p.R1859W	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1859					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGTTTTCCCGGAGCACATGCT	0.629000														38			9		0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156845925	156845925	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156845925G>A	uc001fqh.1	+	12	1611	c.1555G>A	c.(1555-1557)Ggc>Agc	p.G519S	NTRK1_uc001fqf.1_Missense_Mutation_p.G483S|NTRK1_uc009wsi.1_Missense_Mutation_p.G218S|NTRK1_uc001fqi.1_Missense_Mutation_p.G513S|NTRK1_uc009wsk.1_Missense_Mutation_p.G516S	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	519	Protein kinase.				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)	GCTGGGGGAGGGCGCCTTTGG	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				92			9		0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211179661	211179661	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:211179661C>T	uc002vec.3	-	0	235	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	36					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TCAATTTTTTCTTCTTTGGGT	0.512000														219			86		0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148951279	148951279	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:148951279A>G	uc003wfp.3	+	4	1389	c.1261A>G	c.(1261-1263)Agg>Ggg	p.R421G		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CATCCCTTGGAGGAAAAGCCG	0.622000														33			15		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230902178	230902178	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:230902178C>T	uc002vqd.2	-	4	1910	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E	FBXO36_uc010fxi.1_Intron	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	484						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AAAGAGTATTCCTATCATGTA	0.333000														49			18		0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258375	56258375	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56258375C>T	uc001nix.1	-	0	472	c.472G>A	c.(472-474)Gag>Aag	p.E158K	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CACATGGTCTCCATCAGGCCA	0.512000														94			36		0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187987	37187987	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:37187987C>T	uc002hrd.1	+	0		c.1829C>T								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		GGTTGTAGCTCAACCTCCTGT	0.498000														24			10		0	0	1	0	0
LOC126536	126536	broad.mit.edu	37	19	16131426	16131426	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16131426C>T	uc002nbw.2	+	2		c.257C>T			LOC126536_uc002nca.3_5'Flank|LOC126536_uc010xow.2_5'Flank|LOC126536_uc002ncb.1_5'Flank					Homo sapiens uncharacterized LOC126536 (LOC126536), non-coding RNA.																		CATCAGTGCCCTGGAAGTGAA	0.627000														29			12		0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42577767	42577767	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42577767G>A	uc003clf.2	+	12	1492	c.1368G>A	c.(1366-1368)ctG>ctA	p.L456L	VIPR1_uc021wwl.1_Silent_p.L415L|VIPR1_uc011azn.2_Silent_p.L429L|VIPR1_uc011azl.1_Silent_p.L408L|VIPR1_uc011azm.1_Silent_p.L246L|VIPR1_uc003clg.2_Silent_p.L101L	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	456					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		AAGTCTCCCTGGTCTGACCAC	0.726000														3			4		0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201869723	201869723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201869723C>T	uc021phl.1	-	1	666	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	LMOD1_uc021phm.1_Missense_Mutation_p.E140K|LMOD1_uc010ppu.2_Intron	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	140					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCACCAGCTTCATCTCTGTCT	0.562000														206			67		0	0	1	0	0
RASSF4	83937	broad.mit.edu	37	10	45484726	45484726	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:45484726C>T	uc001jbp.3	+	5	2178	c.629C>T	c.(628-630)tCc>tTc	p.S210F	RASSF4_uc001jbo.3_Missense_Mutation_p.S179F|RASSF4_uc009xmn.3_Missense_Mutation_p.S109F|RASSF4_uc001jbq.3_Missense_Mutation_p.S76F|RASSF4_uc001jbt.3_Missense_Mutation_p.S136F			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	179	Ras-associating.				cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GTACAGACCTCCGTGTTTACT	0.547000														37			14		0	0	1	0	0
FLJ38723	0	broad.mit.edu	37	15	62539564	62539564	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:62539564C>T	uc002ajj.1	-	3	309	c.301G>A	c.(301-303)Gag>Aag	p.E101K	FLJ38723_uc002ain.1_Non-coding_Transcript|DQ583624_uc021sof.1_5'Flank|DQ596164_uc021sog.1_5'Flank|DQ590682_uc002ajw.3_5'Flank|DQ578824_uc010uhq.2_5'Flank|DQ573543_uc002ajx.3_5'Flank|DQ596057_uc002ajy.3_5'Flank|DQ586930_uc021soh.1_5'Flank					RecName: Full=Golgin subfamily A member 2-like protein 4;																		TGCAGATACTCGGCATACTGC	0.542000														28			13		0	0	1	0	0
TCRVA15	0	broad.mit.edu	37	14	22205179	22205179	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22205179C>T	uc001wbp.2	+	1	292	c.243C>T	c.(241-243)atC>atT	p.I81I	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Intron|TCRVA15_uc021rpc.1_Non-coding_Transcript					SubName: Full=Tcell alpha chain; Flags: Fragment;																		CCCTGTTTATCCCTGCCGACA	0.498000														19			17		0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908993	158908993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158908993C>T	uc001ftb.3	+	3	785	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S	PYHIN1_uc001fta.4_Missense_Mutation_p.P179S|PYHIN1_uc001ftc.3_Missense_Mutation_p.P170S|PYHIN1_uc001ftd.3_Missense_Mutation_p.P179S|PYHIN1_uc001fte.3_Missense_Mutation_p.P170S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	179					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TTCCCCACCTCCCCAGACCTC	0.522000														138			50		0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280812	105280812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:105280812G>A	uc010npd.3	-	0	473	c.238C>T	c.(238-240)Ctt>Ttt	p.L80F	SERPINA7_uc004eme.2_Missense_Mutation_p.L80F|SERPINA7_uc010npe.2_Missense_Mutation_p.L80F	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	80					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCAAAGGAAAGCATAACCAAA	0.498000														30			30		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50683749	50683749	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:50683749C>T	uc002lfe.2	+	7	1901	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	DCC_uc010xdr.1_Missense_Mutation_p.P277S|DCC_uc010dpf.2_Missense_Mutation_p.P84S	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	429	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.P429H(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAGTGTCCTCCCTTCGGCTCC	0.537000														180			82		0	0	1	0	0
DOK2	9046	broad.mit.edu	37	8	21769936	21769936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:21769936G>A	uc003wzx.1	-	1	242	c.149C>T	c.(148-150)cCt>cTt	p.P50L	DOK2_uc003wzy.1_Missense_Mutation_p.P50L|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_Intron	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	50	PH.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		ACACCGACGAGGCTTCTCCGG	0.711000														10			4		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150817106	150817106	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:150817106G>A	uc004fev.4	+	8	981	c.649G>A	c.(649-651)Gga>Aga	p.G217R		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	217						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)					AGGTCAAAGAGGACACACTAG	0.408000														57			92		0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47253785	47253785	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:47253785G>A	uc003oyv.3	-	1	1076	c.643C>T	c.(643-645)Ccg>Tcg	p.P215S		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	215					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GAGAAGGACGGGAGTGTGCCA	0.542000														60			12		0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898673	30898673	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30898673C>T	uc002wxq.3	+	1	1273	c.1093C>T	c.(1093-1095)Ctc>Ttc	p.L365F	KIF3B_uc010ztv.2_Missense_Mutation_p.L365F|KIF3B_uc010ztw.2_Missense_Mutation_p.L365F	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	365					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GATTGCTCGGCTCAAGGCCCA	0.557000														76			9		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51887531	51887531	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51887531G>A	uc001rys.1	+	19	2922	c.2744G>A	c.(2743-2745)gGa>gAa	p.G915E	SLC4A8_uc001rym.3_Missense_Mutation_p.G862E|SLC4A8_uc001ryn.3_Missense_Mutation_p.G862E|SLC4A8_uc001ryo.2_Missense_Mutation_p.G862E|SLC4A8_uc010snj.2_Missense_Mutation_p.G942E|SLC4A8_uc001ryr.3_Missense_Mutation_p.G915E	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	915					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTTTACATGGGAGTTTCTTCA	0.443000														169			33		0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50225432	50225432	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:50225432G>A	uc003cyj.3	+	18	2440	c.2242G>A	c.(2242-2244)Ggt>Agt	p.G748S	SEMA3F_uc003cyk.3_Missense_Mutation_p.G717S	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	748					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GTACTGCCAGGGTTACTGGCG	0.701000														14			9		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43774687	43774687	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:43774687C>T	uc001ciu.3	+	7	1250	c.1073C>T	c.(1072-1074)tCa>tTa	p.S358L	TIE1_uc010okd.2_Missense_Mutation_p.S358L|TIE1_uc010oke.2_Missense_Mutation_p.S313L|TIE1_uc009vwq.3_Missense_Mutation_p.S314L|TIE1_uc010okf.1_Missense_Mutation_p.S3L|TIE1_uc010okg.2_Missense_Mutation_p.S3L|TIE1_uc010okc.2_Intron	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	358					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AACATGGCCTCAGAACTGGAG	0.602000														70			15		0	0	1	0	0
AMN	81693	broad.mit.edu	37	14	103396997	103396997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:103396997G>A	uc001ymg.4	+	11	1375	c.1342G>A	c.(1342-1344)Ggg>Agg	p.G448R	AMN_uc001ymh.4_Missense_Mutation_p.G394R	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN	Homo sapiens amnionless homolog (mouse) (AMN), mRNA.	448					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTGTTCGCCGGGGCCGAGGC	0.716000														11			6		0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125282298	125282298	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125282298G>A	uc011lyw.2	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						ATAGCCTAAGGAACAGGGACA	0.458000														52			23		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49425842	49425842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49425842G>A	uc001rta.4	-	38	12646	c.12646C>T	c.(12646-12648)Cct>Tct	p.P4216S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4216	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGCTGCTGAGGACTTAAGTGC	0.622000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				62			7		0	0	1	0	0
SPP1	6696	broad.mit.edu	37	4	88903860	88903860	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:88903860G>A	uc003hra.3	+	6	922	c.757G>A	c.(757-759)Gag>Aag	p.E253K	SPP1_uc011cde.2_Missense_Mutation_p.E266K|SPP1_uc003hrb.3_Missense_Mutation_p.E226K|SPP1_uc003hrc.3_Missense_Mutation_p.E239K|SPP1_uc003hrd.3_Missense_Mutation_p.E212K	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	Homo sapiens secreted phosphoprotein 1 (SPP1), transcript variant 1, mRNA.	253					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		AGCCAATGATGAGAGCAATGA	0.468000														102			31		0	0	1	0	0
TRIL	9865	broad.mit.edu	37	7	28996799	28996799	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:28996799C>T	uc003szt.3	-	2	1228	c.861G>A	c.(859-861)cgG>cgA	p.R287R	DQ601810_uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	Homo sapiens TLR4 interactor with leucine-rich repeats (TRIL), mRNA.	288					inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										GCTGGCTCAGCCGATTACCCT	0.692000														16			3		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68661616	68661616	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:68661616G>A	uc010bib.3	-	2	258	c.171C>T	c.(169-171)gtC>gtT	p.V57V	ITGA11_uc002ari.3_Silent_p.V57V	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	57					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGGCGCCCACGACCAGCCTGG	0.567000														86			21		0	0	1	0	0
CPVL	54504	broad.mit.edu	37	7	29132281	29132281	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:29132281C>T	uc003szv.3	-	5	619	c.500G>A	c.(499-501)gGa>gAa	p.G167E	CPVL_uc003szw.3_Missense_Mutation_p.G167E|CPVL_uc003szx.3_Missense_Mutation_p.G167E	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	167					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GACTGCATATCCGTGGGTATC	0.438000														55			10		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123797160	123797160	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:123797160A>C	uc004bkv.3	-	4	535	c.505T>G	c.(505-507)Tca>Gca	p.S169A	C5_uc010mvm.1_Missense_Mutation_p.S169A|C5_uc010mvn.1_Missense_Mutation_p.S169A	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	169					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCAACTTCTGATCCTTCAGGA	0.299000														29			6		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566459	5566459	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5566459C>T	uc010qzh.2	-	0	295	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E99K(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGTGATTTCGCGAGCCCCT	0.468000														43			30		0	0	1	0	0
PGA5	5222	broad.mit.edu	37	11	61015963	61015963	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:61015963G>A	uc001nqz.3	+	5	784	c.729G>A	c.(727-729)tgG>tgA	p.W243*		NM_014224	NP_055039	P00790	PEPA_HUMAN	Homo sapiens pepsinogen 5, group I (pepsinogen A) (PGA5), mRNA.	243					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						GTCTGAACTGGGTGCCTGTTA	0.547000														206			81		0	0	1	0	0
WNT10A	80326	broad.mit.edu	37	2	219754737	219754737	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219754737C>T	uc002vjd.1	+	2	871	c.408C>T	c.(406-408)atC>atT	p.I136I		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	136					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTACGCCATCGCAGCAGCTG	0.617000														88			12		0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13183510	13183510	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:13183510G>A	uc010mia.1	-	17	2613	c.2556C>T	c.(2554-2556)atC>atT	p.I852I	MPDZ_uc010mhz.3_Silent_p.I852I|MPDZ_uc011lmn.2_Silent_p.I852I|MPDZ_uc010mhy.3_Silent_p.I852I|MPDZ_uc003zlb.4_Silent_p.I852I	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	852					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GAGTAGAGTAGATGCTGTCAT	0.403000														27			5		0	0	1	0	0
FAM22A	728118	broad.mit.edu	37	10	88988177	88988177	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:88988177C>T	uc001kek.3	+	1	923	c.540C>T	c.(538-540)acC>acT	p.T180T	LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron	NM_001099338	NP_001092808	Q8IVF1	FA22A_HUMAN	Homo sapiens family with sequence similarity 22, member A (FAM22A), mRNA.	180																	TGCTGTCTACCCTCCCCAGCA	0.677000			T	YWHAE	edometrial stromal sarcoma									183			28		0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46343634	46343634	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:46343634G>A	uc002ldd.3	+	10	1779	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	CTIF_uc002ldc.3_Missense_Mutation_p.E472K|CTIF_uc002lde.4_Missense_Mutation_p.E101K	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	472	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GCAGGACGTGGAGCGCTGGCT	0.672000														87			19		0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15262412	15262412	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:15262412C>T	uc001rcs.3	-	3	372	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	RERG_uc001rct.3_Missense_Mutation_p.E78K|RERG_uc010shu.2_Missense_Mutation_p.E59K	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	78					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						ACAAAGCCTTCCCCCCATCGC	0.458000														464			51		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120241121	120241121	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:120241121G>A	uc001txj.2	-	9	1240	c.1184C>T	c.(1183-1185)tCg>tTg	p.S395L	CIT_uc001txh.2_5'UTR|CIT_uc001txi.2_Missense_Mutation_p.S395L	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	395	AGC-kinase C-terminal.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGAAACCCACGAATTCTTCTC	0.522000														98			42		0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19822199	19822199	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19822199G>A	uc002nnk.1	-	3	2045	c.1891C>T	c.(1891-1893)Cga>Tga	p.R631*		NM_021030	NP_066358	P17017	ZNF14_HUMAN	Homo sapiens zinc finger protein 14 (ZNF14), mRNA.	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCATGCAGTCGAAAGTGACTG	0.393000														127			14		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27458257	27458257	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27458257C>T	uc002rji.3	+	23	4093	c.3931C>T	c.(3931-3933)Ccc>Tcc	p.P1311S	CAD_uc010eyw.3_Missense_Mutation_p.P1248S	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1311	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTTTAAGATCCCCAAGAAGAA	0.572000														108			14		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814126	123814126	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123814126G>A	uc010sab.2	-	0	420	c.420C>T	c.(418-420)gtC>gtT	p.V140V		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V140V(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTTGGGAACAGACATGGCCAT	0.567000														18			12		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37514853	37514853	+	Missense_Mutation	SNP	C	T	T	rs143674262		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:37514853C>T	uc003chd.3	+	2	375	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	ITGA9_uc003chc.3_Missense_Mutation_p.R108W	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	108					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.R108H(1)|p.R108Q(1)|p.R108R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AGGGAAGAATCGGGGCACGTC	0.582000														45			8		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958711	49958711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:49958711G>A	uc004dow.1	-	4	777	c.653C>T	c.(652-654)tCc>tTc	p.S218F	AKAP4_uc004dou.1_Missense_Mutation_p.S209F|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.S40F	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	218					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GACGTAGAAGGAAAGGTCATC	0.438000														36			84		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123966241	123966241	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:123966241C>T	uc022bag.1	+	0	2491	c.2491C>T	c.(2491-2493)Cct>Tct	p.P831S	ZHX2_uc003ypk.1_Missense_Mutation_p.P831S	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	831						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGACTGCGTCCCTGCAGAGGC	0.567000														25			6		0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686601	54686601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54686601C>T	uc009znk.3	-	1	1189	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	NFE2_uc001sfq.3_Missense_Mutation_p.E227K|NFE2_uc001sfr.4_Missense_Mutation_p.E227K|NFE2_uc009znl.3_Missense_Mutation_p.E227K	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	227					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GCCCGACGTTCATCCCGACTC	0.577000														24			14		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19760614	19760614	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19760614G>A	uc002nnh.4	-	17	2499	c.2471C>T	c.(2470-2472)cCc>cTc	p.P824L	ATP13A1_uc002nne.3_5'UTR|ATP13A1_uc002nnf.4_Missense_Mutation_p.P192L|ATP13A1_uc002nng.3_Missense_Mutation_p.P706L	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	824					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAGCTGCTGGGGGTCGGTGGC	0.687000														40			7		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73447448	73447448	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73447448C>T	uc001jrx.4	+	17	2415	c.2025C>T	c.(2023-2025)ttC>ttT	p.F675F	CDH23_uc001jry.3_Silent_p.F675F|CDH23_uc001jrz.3_Silent_p.F675F	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	677	Cadherin 7.				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						CCGCCTACTTCGTCTCCGTGG	0.627000														17			21		0	0	1	0	0
CCL15	6359	broad.mit.edu	37	17	34328476	34328476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:34328476G>A	uc010wcu.2	-	0	609	c.56C>T	c.(55-57)tCc>tTc	p.S19F	CCL15_uc010wcs.2_Non-coding_Transcript|CCL15_uc010wct.2_Non-coding_Transcript	NM_032965	NP_116741	Q16663	CCL15_HUMAN	Homo sapiens chemokine (C-C motif) ligand 15 (CCL15), mRNA.	19					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity	p.S19Y(2)		large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGGCCTGGGATCCAAGGAC	0.587000														40			6		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	120473	120473	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000209.1:120473G>A	uc010yie.2	+	3	436	c.425G>A	c.(424-426)gGa>gAa	p.G142E	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.G139E|KIR2DL2_uc002qum.3_Missense_Mutation_p.G142E	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	142	Ig-like C2-type 2.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										GTTCTGGCAGGAGAGAATGTG	0.572000														161			86		0	0	1	0	0
SPANXN1	494118	broad.mit.edu	37	X	144329145	144329145	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:144329145G>A	uc004fcb.2	+	0	39	c.39G>A	c.(37-39)agG>agA	p.R13R		NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN	Homo sapiens SPANX family, member N1 (SPANXN1), mRNA.	13										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGAAGAGGAAGAGCCCCT	0.463000														60			90		0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29354130	29354130	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29354130C>T	uc002rmv.3	+	2	379	c.140C>T	c.(139-141)tCt>tTt	p.S47F	CLIP4_uc002rmu.3_Missense_Mutation_p.S47F|CLIP4_uc010ezm.1_Missense_Mutation_p.S47F|CLIP4_uc002rmw.3_Non-coding_Transcript|CLIP4_uc010ymn.1_Missense_Mutation_p.S29F	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	47										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TCAGAATTTTCTTTCTTTGAT	0.274000														36			16		0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53792933	53792933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53792933C>T	uc002qbk.3	-	0	1943	c.695G>A	c.(694-696)aGa>aAa	p.R232K		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	232					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CATAAAAACTCTTTGCTTGAA	0.388000														160			15		0	0	1	0	0
BC139719	0	broad.mit.edu	37	16	90161013	90161013	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:90161013C>T	uc002fqq.3	+	2	243	c.243C>T	c.(241-243)ttC>ttT	p.F81F	BC139719_uc002fqp.3_Intron					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																		CGGGGCCCTTCGGGCAGGTCT	0.667000														61			24		0	0	1	0	0
MPV17	4358	broad.mit.edu	37	2	27532804	27532804	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27532804C>A	uc002rjr.3	-	6	554	c.507G>T	c.(505-507)ctG>ctT	p.L169L	UCN_uc002rjp.1_5'Flank|UCN_uc021vfc.1_5'Flank|MPV17_uc002rjs.3_Silent_p.L169L|MPV17_uc002rjt.3_Non-coding_Transcript	NM_002437	NP_002428	P39210	MPV17_HUMAN	Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), nuclear gene encoding mitochondrial protein, mRNA.	169					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTCCAGGACAGGTAGGAGT	0.517000														36			13		0.00010058	0.000100718	1	1	0
PGC	5225	broad.mit.edu	37	6	41710071	41710071	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:41710071C>T	uc003ora.2	-	4	671	c.604G>A	c.(604-606)Gag>Aag	p.E202K	PGC_uc021yzm.1_Missense_Mutation_p.E202K	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	202					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			AGGGCGCCCTCCTGCACCATG	0.642000														70			33		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44131741	44131741	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:44131741C>T	uc003bdy.2	-	6	954	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	EFCAB6_uc003bdz.2_Missense_Mutation_p.E62K|EFCAB6_uc010gzi.2_Missense_Mutation_p.E62K|EFCAB6_uc011aqa.2_Missense_Mutation_p.E108K|EFCAB6_uc003bea.2_Missense_Mutation_p.E211K|EFCAB6_uc003beb.4_Missense_Mutation_p.E108K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GCTTACTTTTCGTATTCCTCG	0.443000														107			41		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77442766	77442766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77442766C>T	uc004ajl.1	-	6	1007	c.769G>A	c.(769-771)Ggc>Agc	p.G257S	TRPM6_uc004ajk.1_Missense_Mutation_p.G252S|TRPM6_uc022bib.1_Missense_Mutation_p.G252S|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.G257S|TRPM6_uc010mpd.1_Missense_Mutation_p.G257S|TRPM6_uc010mpe.1_Missense_Mutation_p.G257S|TRPM6_uc004ajn.1_Missense_Mutation_p.G257S	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	257					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.V256V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCATACTTGCCCACGGTCCCA	0.517000														89			10		0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75869049	75869049	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:75869049G>A	uc001vjl.1	-	17	3604	c.3257C>T	c.(3256-3258)cCc>cTc	p.P1086L	TBC1D4_uc010tht.1_Missense_Mutation_p.P296L|TBC1D4_uc010thu.1_Missense_Mutation_p.P243L|TBC1D4_uc010aer.2_Missense_Mutation_p.P1078L|TBC1D4_uc010aes.2_Missense_Mutation_p.P1023L	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	1086	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity	p.P1086L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAGGAACCAGGGGGCAGCATA	0.393000														84			18		0	0	1	0	0
RAD17	5884	broad.mit.edu	37	5	68677778	68677778	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:68677778G>A	uc003jwo.3	+	3	497	c.435G>A	c.(433-435)acG>acA	p.T145T	RAD17_uc003jwg.3_Silent_p.T134T|RAD17_uc003jwi.3_Silent_p.T134T|RAD17_uc003jwh.3_Silent_p.T134T|RAD17_uc003jwj.3_Silent_p.T134T|RAD17_uc003jwk.3_Silent_p.T134T|RAD17_uc003jwl.3_Silent_p.T134T|RAD17_uc003jwm.3_5'UTR|RAD17_uc003jwn.3_Silent_p.T48T	NM_133339	NP_579917	O75943	RAD17_HUMAN	Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA.	145					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		GAAAGACAACGACCTTAAAAA	0.333000								Other conserved DNA damage response genes						69			23		0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77639588	77639588	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:77639588G>A	uc001oys.3	-	10	1199	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Missense_Mutation_p.R391C	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	391					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)			GCAGCAATACGAACCTCTAGA	0.493000														15			3		0	0	1	0	0
TPPP2	122664	broad.mit.edu	37	14	21499223	21499223	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21499223G>A	uc001vzh.3	+	2	414	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	NDRG2_uc010tll.2_Intron	NM_173846	NP_776245	P59282	TPPP2_HUMAN	Homo sapiens tubulin polymerization-promoting protein family member 2 (TPPP2), mRNA.	76						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGCAGTGAAGGAACTGGGCCA	0.502000														63			29		0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153925837	153925837	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153925837G>A	uc021pab.1	-	5	671	c.512C>T	c.(511-513)tCt>tTt	p.S171F	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_5'UTR	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	171					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCAGAGTCAGAGCTTGTCCT	0.587000														71			17		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759380	121759380	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:121759380G>A	uc003ksw.1	+	3	1154	c.948G>A	c.(946-948)ctG>ctA	p.L316L	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Silent_p.L316L|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Silent_p.L363L|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Silent_p.L316L	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	316					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTGAGTATCTGAAAAAAGTGA	0.443000														96			13		0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17198952	17198952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:17198952C>T	uc003wxm.3	-	5	891	c.652G>A	c.(652-654)Gag>Aag	p.E218K	MTMR7_uc003wxn.3_5'UTR	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	218	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TGCTCGTCCTCTAGGCACCGG	0.572000														38			11		0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115614311	115614311	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:115614311C>T	uc003vhj.2	-	3	434	c.181_splice	c.e3-1	p.M61_splice	TFEC_uc003vhk.2_Intron|TFEC_uc003vhl.4_Intron|TFEC_uc011kmw.2_Splice_Site_p.M151_splice	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	61	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CGTCCTCCATCTAGCAAAATA	0.323000														49			20		0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125239414	125239414	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125239414G>A	uc011lyu.2	-	0	792	c.792C>T	c.(790-792)tcC>tcT	p.S264S	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TGGTGTTGCTGGATGGGGGAA	0.418000														98			48		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071513	9071513	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9071513G>A	uc002mkp.3	-	2	16137	c.15933C>T	c.(15931-15933)acC>acT	p.T5311T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5313	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						CCATGAGAGTGGTCACCTCTG	0.532000														71			14		0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51362271	51362271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:51362271C>T	uc010lxy.1	+	6	634	c.263C>T	c.(262-264)tCc>tTc	p.S88F	SNTG1_uc003xqs.1_Missense_Mutation_p.S88F|SNTG1_uc010lxz.1_Missense_Mutation_p.S88F|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	88	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.S88S(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCAAAAATCTCCAAGGAACAA	0.313000														32			11		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11580895	11580895	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11580895C>T	uc001ash.4	+	9	2490	c.2352C>T	c.(2350-2352)atC>atT	p.I784I	PTCHD2_uc001asi.1_Silent_p.I784I	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	784					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)		TCTCCTGCATCACCTGTTCAG	0.637000														9			7		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215901705	215901705	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:215901705C>T	uc001hku.1	-	60	12120	c.11733G>A	c.(11731-11733)gaG>gaA	p.E3911E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3911	Fibronectin type-III 24.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.E3911D(2)|p.E3910E(1)		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)		AAACAGACTCCTCTTCAATGC	0.453000										HNSCC(13;0.011)				35			19		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50216681	50216681	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50216681C>T	uc010eng.3	+	19	2547	c.2231C>T	c.(2230-2232)tCc>tTc	p.S744F	CPT1C_uc002ppk.3_Missense_Mutation_p.S733F|CPT1C_uc010enh.3_Missense_Mutation_p.S744F|CPT1C_uc002ppj.3_Missense_Mutation_p.S744F|CPT1C_uc010eni.1_Missense_Mutation_p.S312F	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	744					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTCCAGGATTCCCACAGGCTG	0.592000														72			22		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64608117	64608117	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:64608117G>A	uc001xgl.3	+	80	15265	c.15035G>A	c.(15034-15036)gGg>gAg	p.G5012E	SYNE2_uc001xgm.3_Missense_Mutation_p.G5012E|SYNE2_uc010apy.3_Missense_Mutation_p.G1397E|SYNE2_uc001xgn.3_5'UTR|SYNE2_uc021rui.1_5'UTR|SYNE2_uc001xgo.3_Non-coding_Transcript	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5012					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATCAGTATCGGGAACCAGCTT	0.348000														80			25		0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155097	12155097	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12155097C>T	uc021upl.1	-	3	1285	c.1119G>A	c.(1117-1119)ggG>ggA	p.G373G	ZNF878_uc002mta.1_Silent_p.G420G	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGAAGGTTTTCCCACATTGTT	0.398000														60			16		0	0	1	0	0
ZNF100	163227	broad.mit.edu	37	19	21910476	21910476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:21910476G>A	uc002nqi.3	-	4	837	c.638C>T	c.(637-639)tCa>tTa	p.S213L	ZNF100_uc002nqh.3_Missense_Mutation_p.S149L	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	Homo sapiens zinc finger protein 100 (ZNF100), mRNA.	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						CATGCAAAATGATTTTTCACA	0.308000														58			23		0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76128477	76128477	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76128477C>T	uc002jup.2	+	3	718	c.336C>T	c.(334-336)ttC>ttT	p.F112F	TMC6_uc002jul.1_5'UTR|TMC8_uc010dhh.1_Missense_Mutation_p.P174S|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	112						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			ACTTCACCTTCCTCCGCTTCC	0.682000														18			7		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113169251	113169251	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113169251C>T	uc010mtz.3	-	37	8966	c.8629G>A	c.(8629-8631)Gga>Aga	p.G2877R	SVEP1_uc010mty.3_Missense_Mutation_p.G803R	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2877	Sushi 24.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTCCAACTTCCATTGGCAAGA	0.537000														46			16		0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71665544	71665544	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:71665544G>A	uc001jql.3	+	17	1452	c.916_splice	c.e17-1	p.G306_splice	COL13A1_uc021prz.1_Splice_Site_p.G284_splice|COL13A1_uc021psa.1_Splice_Site_p.G249_splice|COL13A1_uc021psb.1_Splice_Site_p.G255_splice|COL13A1_uc001jqk.2_Splice_Site_p.G284_splice|COL13A1_uc021psc.1_Splice_Site_p.G287_splice|COL13A1_uc021psd.1_Splice_Site_p.G284_splice|COL13A1_uc010qjf.2_Splice_Site_p.G249_splice|COL13A1_uc021pse.1_Splice_Site_p.G255_splice|COL13A1_uc021psf.1_Splice_Site_p.G306_splice|COL13A1_uc021psg.1_Splice_Site_p.G284_splice|COL13A1_uc021psh.1_Splice_Site_p.G287_splice	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	306	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	TTTTCCCAGGGAGACCCAGGG	0.542000														25			9		0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43858486	43858486	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43858486G>A	uc002owi.3	+	2	363	c.321G>A	c.(319-321)gaG>gaA	p.E107E	CD177_uc021uvf.1_Silent_p.E107E|CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	107					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GCCGCCAGGAGGACTTCTGCA	0.677000														64			27		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191710	66191710	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66191710C>T	uc001ohx.1	+	6	1525	c.1349C>T	c.(1348-1350)aCc>aTc	p.T450I	NPAS4_uc010rpc.1_Missense_Mutation_p.T240I	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	450					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						CATTTGCCCACCCCATCCAGC	0.562000														187			82		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25272796	25272796	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25272796C>T	uc010aaa.3	+	12	1864	c.1531_splice	c.e12-1	p.L511_splice	ATP12A_uc001upp.3_Splice_Site_p.L505_splice	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	505					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCCTTCCCAGCTCTCCATCCA	0.507000														41			23		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812786	2812786	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2812786C>T	uc002crk.3	+	10	2806	c.2257C>T	c.(2257-2259)Cgc>Tgc	p.R753C	SRRM2_uc002crj.1_Missense_Mutation_p.R657C|SRRM2_uc002crl.1_Missense_Mutation_p.R753C|SRRM2_uc010bsu.1_Missense_Mutation_p.R657C	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	753	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						GAAGAAATCTCGCATTTCTTC	0.488000														112			37		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718726	25718726	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:25718726C>T	uc003xes.2	-	12	1446	c.1181G>A	c.(1180-1182)cGa>cAa	p.R394Q	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	394					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GTCTGCGGCTCGCTTCAAAAT	0.488000														68			35		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33586675	33586675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33586675G>A	uc002xbi.2	+	34	4590	c.4273G>A	c.(4273-4275)Gaa>Aaa	p.E1425K		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1383						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGCAAGTACGAAGCAGATGC	0.637000														42			17		0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205308499	205308499	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205308499C>T	uc001hcf.1	-	3	1148	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	KLHDC8A_uc010prg.1_Missense_Mutation_p.V81I|KLHDC8A_uc001hcg.1_Missense_Mutation_p.V194I	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	194										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ATGTCAAAGACCTCGAAAGCG	0.567000														29			5		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688703	26688703	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26688703C>T	uc003acb.3	+	1	622	c.426C>T	c.(424-426)gtC>gtT	p.V142V	SEZ6L_uc003acd.3_Silent_p.V142V|SEZ6L_uc011akd.2_Silent_p.V142V|SEZ6L_uc003ace.3_Silent_p.V142V|SEZ6L_uc011akc.2_Silent_p.V142V|SEZ6L_uc003acc.3_Silent_p.V142V|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	142						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAGCCACTGTCCAAAGGGCAG	0.662000														35			12		0	0	1	0	0
MKNK1	8569	broad.mit.edu	37	1	47024335	47024335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47024335G>A	uc001cqb.3	-	13	1554	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	MKNK1_uc010omd.2_Missense_Mutation_p.S301F|MKNK1_uc001cqc.3_Missense_Mutation_p.S396F|MKNK1_uc009vyi.3_3'UTR|MKNK1_uc010ome.2_3'UTR|LOC100507423_uc021onb.1_Intron	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 1 (MKNK1), transcript variant 1, mRNA.	437					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GCAGGGAGGGGAAAGCTTCAT	0.627000														36			22		0	0	1	0	0
PPP1R14D	54866	broad.mit.edu	37	15	41108451	41108451	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:41108451C>T	uc001zmz.3	-	3	440	c.372_splice	c.e3-1	p.G124_splice	PPP1R14D_uc001zmy.3_Splice_Site_p.D86_splice	NM_001130143	NP_001123615	Q9NXH3	PP14D_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14D (PPP1R14D), transcript variant 2, mRNA.	0					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GTTGCTTGATCCTATTTGGAA	0.527000														55			7		0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779004	31779004	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31779004C>T	uc003nxh.3	-	1	929	c.746G>A	c.(745-747)aGg>aAg	p.R249K	HSPA1L_uc010jte.3_Missense_Mutation_p.R249K|HSPA1L_uc021yuz.1_Missense_Mutation_p.R249K	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	249					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTTGTGTTTCCTCTTGAACTC	0.592000														97			39		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55939061	55939061	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55939061G>A	uc003pcs.3	-	19	2166	c.1934C>T	c.(1933-1935)tCa>tTa	p.S645L	COL21A1_uc010jzz.3_Missense_Mutation_p.S30L|COL21A1_uc011dxg.2_Missense_Mutation_p.S30L|COL21A1_uc011dxh.2_Missense_Mutation_p.S30L|COL21A1_uc003pcr.3_Missense_Mutation_p.H3Y	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	645	Collagen-like 3.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGGCCTGGTGAGCCATTGCT	0.333000														112			20		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150906174	150906174	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:150906174G>A	uc003eyp.3	+	11	1789	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	MED12L_uc011bnz.2_Missense_Mutation_p.E414K|MED12L_uc003eyn.3_Missense_Mutation_p.E554K|MED12L_uc003eyo.3_Missense_Mutation_p.E554K	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	554					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGATGAGAAGGAGTCTATTTC	0.353000														76			35		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141260537	141260537	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141260537C>T	uc002tvj.1	-	53	9629	c.8657G>A	c.(8656-8658)aGt>aAt	p.S2886N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2886					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTACCTGCACTTTTACACTT	0.368000										TSP Lung(27;0.18)				80			19		0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8111504	8111504	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:8111504G>A	uc001ijz.3	+	4	1550	c.993G>A	c.(991-993)agG>agA	p.R331R	GATA3_uc001ika.3_Silent_p.R330R	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	330					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding	p.R330fs*22(1)|p.R331fs*24(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCTGGAGGAGGAATGCCAATG	0.557000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""							80			41		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087344	9087344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9087344G>A	uc002mkp.3	-	0	4675	c.4471C>T	c.(4471-4473)Cct>Tct	p.P1491S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1491	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						GTGGACATAGGTGGAAAAATA	0.428000														203			18		0	0	1	0	0
AARD	441376	broad.mit.edu	37	8	117950651	117950651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:117950651G>A	uc003yof.3	+	0	188	c.169G>A	c.(169-171)Gag>Aag	p.E57K	AL832163_uc022baa.1_Non-coding_Transcript	NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN	Homo sapiens chromosome 8 open reading frame 85 (C8orf85), mRNA.	57																	CCCGCTGCTGGAGGACCTCAG	0.741000														20			7		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32020752	32020753	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32020752_32020753GG>AA	uc003nzl.2	-	25	9005_9006	c.8803_8804CC>TT	c.(8803-8805)ccc>TTc	p.P2935F		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2982	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTGGGGGCGGGAGTTTCTTCC	0.644000														52			18		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196771386	196771386	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196771386C>T	uc002utj.4	-	26	4433	c.4332G>A	c.(4330-4332)ctG>ctA	p.L1444L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1444	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCATACCTTCAGGTTATCTG	0.388000														96			41		0	0	1	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940552	67940552	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:67940552G>A	uc001xjk.3	-	2	499	c.89C>T	c.(88-90)gCc>gTc	p.A30V	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.A30V	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	30						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GAACTCCCAGGCCGCTGTGAA	0.627000														21			8		0	0	1	0	0
GCFC2	6936	broad.mit.edu	37	2	75929446	75929447	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:75929446_75929447GG>AA	uc002sno.3	-	2	627_628	c.497_498CC>TT	c.(496-498)tcc>tTT	p.S166F	GCFC2_uc010ffs.3_5'Flank|GCFC2_uc002snn.3_5'UTR|GCFC2_uc010fft.3_5'UTR|GCFC2_uc002snp.4_Missense_Mutation_p.S166F	NM_003203	NP_001188263	P16383	GCF_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 2 (GCFC2), transcript variant 1, mRNA.	166					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										TACCAGAGATGGAGGAGGTATG	0.450000														119			57		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167086743	167086743	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167086743G>A	uc001geb.1	+	2	400	c.384G>A	c.(382-384)gaG>gaA	p.E128E		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	128					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ATCGCCAAGAGGCGCCCTGGA	0.547000														15			5		0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54673325	54673325	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54673325G>A	uc010erf.3	-	2	517	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	TMC4_uc002qdo.3_Missense_Mutation_p.R123W	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	129						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TTGGACCTCCGAAGTAGCCGC	0.592000														82			42		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233275579	233275579	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233275579G>A	uc001hvl.2	-	19	3775	c.3540C>T	c.(3538-3540)ttC>ttT	p.F1180F	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.	1180						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)				AGAGTCTTTCGAACCACATTA	0.323000														11			30		0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136610419	136610419	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136610419G>A	uc002tuw.3	-	11	1769	c.1693C>T	c.(1693-1695)Cgt>Tgt	p.R565C		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	565					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GAATAGACACGATCAATTGAT	0.368000														51			23		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249310	20249310	+	Missense_Mutation	SNP	C	T	T	rs3968186		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20249310C>T	uc010tku.2	+	0	829	c.829C>T	c.(829-831)Cat>Tat	p.H277Y		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTCTGTGTTTCATACTGTAAT	0.388000														80			32		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16032807	16032807	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:16032807G>A	uc010lsu.3	-	2	224	c.160C>T	c.(160-162)Cct>Tct	p.P54S	MSR1_uc003wwz.3_Missense_Mutation_p.P36S|MSR1_uc003wxa.3_Missense_Mutation_p.P36S|MSR1_uc003wxb.3_Missense_Mutation_p.P36S|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	36					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTGTTTTTAGGATCTAATAAA	0.388000														56			11		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40114687	40114687	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:40114687G>A	uc001rmc.3	+	12	1760	c.1593G>A	c.(1591-1593)agG>agA	p.R531R	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	531										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						ATGTAGAAAGGATGGCAAAAC	0.318000														78			25		0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50220961	50220961	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:50220961C>T	uc003cyj.3	+	11	1395	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	SEMA3F_uc003cyk.3_Silent_p.P368P	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	399	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		AGTGGATGCCCTTCTCAGGGA	0.592000														69			31		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572088	76572088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:76572088C>T	uc002fex.1	+	17	3219	c.3080C>T	c.(3079-3081)tCc>tTc	p.S1027F	CNTNAP4_uc002feu.1_Missense_Mutation_p.S1023F|CNTNAP4_uc002fev.1_Missense_Mutation_p.S888F|CNTNAP4_uc010chb.1_Missense_Mutation_p.S951F	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1024					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGTAAAAACTCCAGCTCCCAC	0.333000														46			10		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064557	7064557	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7064557G>A	uc001mfb.1	+	3	1623	c.1300G>A	c.(1300-1302)Gga>Aga	p.G434R		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	434	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CGCTGCCAAAGGAATATGGAC	0.428000														137			57		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121880150	121880150	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:121880150G>A	uc001uat.3	-	18	3198	c.3094C>T	c.(3094-3096)Ccg>Tcg	p.P1032S	KDM2B_uc010szy.2_Missense_Mutation_p.P472S|KDM2B_uc001uaq.3_Missense_Mutation_p.P472S|KDM2B_uc001uar.3_Missense_Mutation_p.P623S|KDM2B_uc001uas.3_Missense_Mutation_p.P963S|KDM2B_uc021rfd.1_Missense_Mutation_p.P963S|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.P1032S|KDM2B_uc001uao.3_Missense_Mutation_p.P280S|KDM2B_uc010szx.2_Missense_Mutation_p.P280S|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	1032	Pro-rich.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CACTTGGGCGGGGACACGGAG	0.721000														11			3		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34125657	34125657	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:34125657G>A	uc011kap.2	+	13	2072	c.1698G>A	c.(1696-1698)tgG>tgA	p.W566*		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	566	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TCAAATCCTGGGAGTTTCAGA	0.502000														56			22		0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	6	46214590	46214590	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46214590G>A	uc003oyc.2	-	3	619	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F	RCAN2_uc003oyb.2_Missense_Mutation_p.L110F|RCAN2_uc003oyd.2_Missense_Mutation_p.L156F	NM_001251974	NP_001238903	Q14206	RCAN2_HUMAN	Homo sapiens regulator of calcineurin 2 (RCAN2), transcript variant 2, mRNA.	110					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GGCGAGATGAGAAACTGTTTG	0.522000														55			13		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726506	63726506	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:63726506C>T	uc003tsx.3	+	4	764	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TCAAAGTCTTCGGCAAATTTT	0.328000														22			8		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409275	105409275	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105409275G>A	uc010axc.1	-	6	12633	c.12513C>T	c.(12511-12513)tcC>tcT	p.S4171S	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.S4071S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4171						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCCTGCATGGAGGGGAGGC	0.632000														251			106		0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	817443	817443	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:817443C>T	uc002cjw.2	+	14	1704	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	MSLN_uc002cju.1_Silent_p.F523F|MSLN_uc002cjt.1_Silent_p.F523F|MSLN_uc010brd.1_Silent_p.F522F|MSLN_uc002cjy.1_Silent_p.F188F|MIR662_uc021tac.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	531					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TGGCCACGTTCATGAAGCTGC	0.697000														83			32		0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170627575	170627575	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:170627575C>T	uc003qxp.3	+	1	1205	c.1097C>T	c.(1096-1098)cCc>cTc	p.P366L	FAM120B_uc003qxo.1_Missense_Mutation_p.P366L|FAM120B_uc011ehd.2_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	366					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CGAGAAGTTCCCGTGTATACA	0.527000														146			78		0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116633707	116633707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:116633707G>A	uc001ppn.3	-	3	632	c.598C>T	c.(598-600)Cct>Tct	p.P200S	BUD13_uc001ppo.3_Missense_Mutation_p.P200S|BUD13_uc009yzc.3_Missense_Mutation_p.P200S	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	200	Arg-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GGGGGAGAAGGATCTGGAGAA	0.567000														127			45		0	0	1	0	0
AX747991	0	broad.mit.edu	37	19	12799973	12799973	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12799973G>A	uc002mul.1	+	0	359	c.231G>A	c.(229-231)aaG>aaA	p.K77K	FBXW9_uc010xmp.2_Non-coding_Transcript|FBXW9_uc002mum.1_3'UTR|FBXW9_uc010dyx.2_3'UTR					Homo sapiens cDNA FLJ35888 fis, clone TESTI2009136.																		GGTCCCCCAAGAACAGAGGAG	0.657000														18			11		0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6882289	6882289	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:6882289C>T	uc002knc.3	+	10	4499	c.1288C>T	c.(1288-1290)Cta>Tta	p.L430L	ARHGAP28_uc002kne.3_Silent_p.L323L|ARHGAP28_uc010wzi.2_Silent_p.L305L|ARHGAP28_uc002knf.3_Silent_p.L314L	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	305					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CTTCATCAGTCTAATGGAAAG	0.403000														57			19		0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98728846	98728846	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:98728846A>G	uc010mry.1	+	12	2177	c.1089A>G	c.(1087-1089)caA>caG	p.Q363Q	ERCC6L2_uc004avt.4_Silent_p.Q661Q|ERCC6L2_uc011lum.2_Silent_p.Q363Q|ERCC6L2_uc010mrz.3_Silent_p.Q472Q|ERCC6L2_uc004avu.3_5'UTR			Q5T890	RAD26_HUMAN	Homo sapiens chromosome 9 open reading frame 102 (C9orf102), mRNA.	661					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										TGTTTTAGCAACTTCACTGTG	0.393000														62			19		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10384494	10384494	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10384494C>T	uc003bvt.3	-	18	3298	c.2859G>A	c.(2857-2859)aaG>aaA	p.K953K	ATP2B2_uc003bvv.3_Silent_p.K908K|ATP2B2_uc003bvw.3_Silent_p.K908K|ATP2B2_uc010hdo.3_Silent_p.K658K	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	953					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCAGGATGTTCTTCATCATGG	0.632000														53			6		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64662882	64662882	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64662882G>A	uc001obx.3	-	39	5575	c.5460C>T	c.(5458-5460)tcC>tcT	p.S1820S	AB429224_uc009ypx.3_5'Flank|ATG2A_uc001obw.3_Silent_p.S585S	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1820							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGGCTGCCGGGGACAGGATGT	0.701000														10			5		0	0	1	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80182511	80182511	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:80182511G>A	uc001syz.3	-	20	2986	c.2719C>T	c.(2719-2721)Cgc>Tgc	p.R907C	PPP1R12A_uc010suc.2_Missense_Mutation_p.R820C|PPP1R12A_uc001sza.3_Missense_Mutation_p.R851C|PPP1R12A_uc010sud.2_Missense_Mutation_p.R907C|PPP1R12A_uc001szb.3_Missense_Mutation_p.R907C|PPP1R12A_uc001syy.3_Non-coding_Transcript	NM_002480	NP_001137358	O14974	MYPT1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12A (PPP1R12A), transcript variant 1, mRNA.	907						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GATCCAGAGCGACCCAGCAAG	0.353000														23			7		0	0	1	0	0
ANTXR2	118429	broad.mit.edu	37	4	80899252	80899252	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:80899252G>A	uc003hlz.4	-	14	2019	c.1256C>T	c.(1255-1257)cCt>cTt	p.P419L	ANTXR2_uc003hly.4_Missense_Mutation_p.P419L|ANTXR2_uc003hlx.1_Non-coding_Transcript|ANTXR2_uc010ijn.3_Missense_Mutation_p.P316L	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN	Homo sapiens anthrax toxin receptor 2 (ANTXR2), transcript variant 2, mRNA.	419						endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						TGTTTCTTCAGGAATCTTCAC	0.483000									Juvenile Hyaline Fibromatosis					60			26		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52521021	52521021	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:52521021G>A	uc001wzo.3	-	3	1020	c.786C>T	c.(784-786)atC>atT	p.I262I	NID2_uc010tqs.2_Silent_p.I262I|NID2_uc010tqt.1_Silent_p.I262I|NID2_uc001wzp.3_Silent_p.I262I	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	262	NIDO.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACACTCCAGGGATCCCCAGGT	0.483000														42			8		0	0	1	0	0
IGLL3P	91353	broad.mit.edu	37	22	25715948	25715948	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:25715948G>A	uc021wnj.1	+	2		c.430G>A								Homo sapiens immunoglobulin lambda-like polypeptide 3, pseudogene (IGLL3P), non-coding RNA.											cervix(1)|lung(4)|skin(1)|stomach(3)	9						GCAGCTACCTGAGCCTGACGC	0.607000														104			13		0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90255328	90255328	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90255328C>T	uc002boj.3	+	4	734	c.633C>T	c.(631-633)ctC>ctT	p.L211L	WDR93_uc010bnr.3_Silent_p.L211L	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	211					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CAGCCTTCCTCCTACAAGGCA	0.388000														43			22		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113533736	113533736	+	Missense_Mutation	SNP	G	A	A	rs140847408		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:113533736G>A	uc003iau.3	-	6	2822	c.2611C>T	c.(2611-2613)Cca>Tca	p.P871S	C4orf21_uc003iaw.3_Missense_Mutation_p.P871S	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	871										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTAATAAATGGTTTCCTCACT	0.284000														55			8		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626236	140626236	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140626236G>A	uc003lje.3	+	0	1090	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	364	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCAGAGACAGAAGTGGCCCT	0.423000														99			25		0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144732203	144732203	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144732203C>T	uc003yzd.2	+	0	250	c.161C>T	c.(160-162)cCc>cTc	p.P54L	ZNF623_uc011lkp.1_Missense_Mutation_p.P14L|ZNF623_uc003yzc.2_Missense_Mutation_p.P14L	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GTCCACGAGCCCAGATTAGGG	0.567000														56			20		0	0	1	0	0
TESC	54997	broad.mit.edu	37	12	117486949	117486949	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117486949C>T	uc001twh.3	-	3	388	c.224G>A	c.(223-225)gGa>gAa	p.G75E	TESC_uc001twi.3_Non-coding_Transcript|TESC_uc021rem.1_Missense_Mutation_p.G48E	NM_017899	NP_060369	Q96BS2	TESC_HUMAN	Homo sapiens tescalcin (TESC), transcript variant 1, mRNA.	75					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		GCCACTGGGTCCCTTGCGCAG	0.537000														71			17		0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053750	95053750	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:95053750C>T	uc001ydm.2	+	2	261	c.51C>T	c.(49-51)gcC>gcT	p.A17A	SERPINA5_uc010ave.2_Silent_p.A17A|SERPINA5_uc001ydn.1_Silent_p.A17A	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	17					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTCAGGGGGCCTCCCTTCACC	0.592000														92			39		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182412572	182412572	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:182412572C>T	uc002unx.3	-	9	1315	c.1214G>A	c.(1213-1215)aGg>aAg	p.R405K	CERKL_uc010frk.3_Intron|CERKL_uc002uny.3_Missense_Mutation_p.R379K|CERKL_uc010zfm.2_Missense_Mutation_p.R361K|CERKL_uc002unz.3_Missense_Mutation_p.R127K|CERKL_uc002uoa.3_Missense_Mutation_p.R310K|CERKL_uc002uob.3_Missense_Mutation_p.R127K|CERKL_uc002uoc.3_Missense_Mutation_p.R266K|CERKL_uc021vth.1_Missense_Mutation_p.R174K|CERKL_uc021vti.1_Missense_Mutation_p.R127K|CERKL_uc021vtj.1_Missense_Mutation_p.R82K|CERKL_uc021vtk.1_Missense_Mutation_p.R127K|CERKL_uc021vtl.1_Missense_Mutation_p.R82K|CERKL_uc021vtm.1_Missense_Mutation_p.R174K|CERKL_uc002uod.2_Missense_Mutation_p.R174K|CERKL_uc002uoe.3_3'UTR|CERKL_uc002unw.3_5'UTR	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	405					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity	p.R405M(1)|p.R379M(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCCCTGTGCCCTCCTAAAAGA	0.393000														129			62		0	0	1	0	0
RPL5	6125	broad.mit.edu	37	1	93301949	93301949	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:93301949G>A	uc001doz.3	+	5	605	c.527_splice	c.e5+1	p.S176_splice	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Splice_Site|RPL5_uc001dpb.3_Splice_Site_p.S126_splice|RPL5_uc001dpd.3_Splice_Site|SNORD21_uc001dpe.2_5'Flank|SNORA66_uc021opt.1_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	176				S -> R (in Ref. 9).	endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		ATCCCTCACAGGTAAGAATAC	0.453000														54			21		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10363550	10363550	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10363550C>T	uc002gmn.3	-	12	1347	c.1236G>A	c.(1234-1236)gaG>gaA	p.E412E	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	412	Myosin head-like.				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						TGGTTACGAACTCATTGCCGA	0.438000														54			46		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74011530	74011530	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74011530C>T	uc010wss.1	-	15	2183	c.1955_splice	c.e15+1	p.K652_splice	EVPL_uc002jqi.2_Splice_Site_p.K630_splice|EVPL_uc010wst.1_Splice_Site_p.K100_splice	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	630	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGAGCACTCACTTCTCCCCGT	0.667000														82			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063345	9063345	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9063345G>A	uc002mkp.3	-	2	24305	c.24101C>T	c.(24100-24102)tCa>tTa	p.S8034L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8036	Ser-rich.|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						TATTTCAACTGAGGTGCTGCT	0.468000														86			38		0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30688494	30688494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:30688494C>T	uc010csz.3	+	6	915	c.568C>T	c.(568-570)Cat>Tat	p.H190Y	ZNF207_uc002hhj.4_Missense_Mutation_p.H187Y|ZNF207_uc002hhh.4_Intron|ZNF207_uc002hhi.4_Missense_Mutation_p.H187Y|ZNF207_uc002hhk.1_Missense_Mutation_p.H187Y|ZNF207_uc002hhl.1_Non-coding_Transcript			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	184						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CAGATTGCATCATCAGAGAAA	0.313000														25			20		0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56127839	56127840	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56127839_56127840GG>AA	uc010rjh.2	+	0	149_150	c.117_118GG>AA	c.(115-120)atggca>atAAca	p.39_40MA>IT		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T38T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GGCTGACCATGGCAGGGAACCT	0.495000														117			47		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179486595	179486595	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179486595C>T	uc021vsy.1	-	192	37575	c.37350G>A	c.(37348-37350)gcG>gcA	p.A12450A	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.A6145A|TTN_uc021vta.1_Silent_p.A6078A|TTN_uc021vtb.1_Silent_p.A5953A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13377							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)			CAGAAGTTCTCGCTGTCCTTA	0.378000														35			19		0	0	1	0	0
NR0B2	8431	broad.mit.edu	37	1	27238395	27238395	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27238395G>A	uc001bnf.3	-	1	851	c.715C>T	c.(715-717)Cct>Tct	p.P239S	BC016143_uc021ojq.1_Intron	NM_021969	NP_068804	Q15466	NR0B2_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA.	239					cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity	p.R238H(1)		NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CCAATGATAGGGCGAAAGAAG	0.612000														116			30		0	0	1	0	0
SLC23A1	9963	broad.mit.edu	37	5	138707942	138707942	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:138707942C>T	uc003leg.3	-	14	1659	c.1562_splice	c.e14-1	p.G521_splice	SLC23A1_uc003leh.3_Splice_Site_p.G517_splice	NM_152685	NP_689898	Q9UHI7	S23A1_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 1 (SLC23A1), transcript variant 2, mRNA.	517					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	L-ascorbate:sodium symporter activity|dehydroascorbic acid transporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CTCTGGGCTCCCTGGAAGAGG	0.537000														41			19		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	122018775	122018775	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:122018775G>A	uc001uat.3	-	0	146	c.42C>T	c.(40-42)ccC>ccT	p.P14P	KDM2B_uc001uas.3_5'Flank|KDM2B_uc021rfd.1_5'Flank|KDM2B_uc001uau.3_5'UTR|KDM2B_uc021rfe.1_Silent_p.P14P|KDM2B_uc001uav.4_Silent_p.P14P	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	14					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTTTTCGTGGGGGGTGATCCT	0.483000														135			38		0	0	1	0	0
CHGA	1113	broad.mit.edu	37	14	93398965	93398965	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:93398965G>A	uc001ybc.4	+	6	1319	c.1059G>A	c.(1057-1059)acG>acA	p.T353T	CHGA_uc001ybd.4_Silent_p.T202T	NM_001275	NP_001266	P10645	CMGA_HUMAN	Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA.	353					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AGGAGCTGACGGCTGAGAAGC	0.657000														8			4		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121391559	121391559	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121391559G>A	uc001pxx.3	+	9	1533	c.1404_splice	c.e9+1	p.E468_splice		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	468					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAATTGTGAGGTATTGATGCT	0.398000														24			11		0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67399174	67399174	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67399174G>A	uc001omp.3	-	7	1148	c.1060C>T	c.(1060-1062)Cgg>Tgg	p.R354W	NUDT8_uc001omn.3_5'Flank|NUDT8_uc001omo.2_5'Flank	NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	354					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						CTATCAGCCCGGATGTTGGGG	0.652000														17			3		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204955233	204955233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204955233C>T	uc010prc.2	+	21	3012	c.1483C>T	c.(1483-1485)Ccg>Tcg	p.P495S	NFASC_uc001hbj.3_Intron|NFASC_uc010pra.2_Missense_Mutation_p.P924S|NFASC_uc001hbi.3_Missense_Mutation_p.P924S|NFASC_uc010prb.2_Missense_Mutation_p.P939S|NFASC_uc001hbk.1_Missense_Mutation_p.P734S|NFASC_uc001hbl.2_Intron|NFASC_uc001hbm.2_5'Flank|NFASC_uc001hbn.1_5'Flank			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	928	Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTTCACCACCCCGGAAGGAGG	0.602000														30			9		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364116	5364116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5364116G>A	uc001map.1	-	0	639	c.639C>T	c.(637-639)ttC>ttT	p.F213F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.F213F	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATAGGAGATGAAGATAATCA	0.468000														83			38		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776193	77776193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:77776193G>A	uc003yau.2	+	10	10630	c.10243G>A	c.(10243-10245)Gaa>Aaa	p.E3415K		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3366						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)			GTTTACTGATGAAGACGCCGC	0.418000										HNSCC(33;0.089)				20			3		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38897326	38897326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38897326G>A	uc021yzh.1	+	74	11267	c.11158G>A	c.(11158-11160)Gag>Aag	p.E3720K	DNAH8_uc003ooe.2_Missense_Mutation_p.E3503K|DNAH8_uc003oog.1_5'UTR|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACACACTTGGAGGACAGCCT	0.408000														152			68		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250110	140250110	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140250110C>T	uc003lia.2	+	0	2280	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	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_uc011dae.2_Silent_p.F474F	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	489	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S473A(1)|p.S473F(1)		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)			GCCACATCTTCACAGTGTCGG	0.662000														139			58		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169337945	169337945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169337945G>A	uc021xuh.1	-	18	2724	c.2614C>T	c.(2614-2616)Cat>Tat	p.H872Y	DDX60L_uc003irq.4_Missense_Mutation_p.H872Y|DDX60L_uc003irr.1_Missense_Mutation_p.H872Y|DDX60L_uc003irs.1_Missense_Mutation_p.H567Y	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	872	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CCAAGATAATGGACCTAGTAA	0.328000														57			14		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981739	7981739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7981739G>A	uc001mfv.1	-	1	1437	c.1420C>T	c.(1420-1422)Cat>Tat	p.H474Y		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	474	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACATGGCATGAAAAAAGTCC	0.532000														124			13		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26446395	26446395	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:26446395C>T	uc001isn.2	+	25	3310	c.2950C>T	c.(2950-2952)Cga>Tga	p.R984*	MYO3A_uc009xko.1_Nonsense_Mutation_p.R984*|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	984	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R984*(6)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCAAGAATTCGAAGACTAGG	0.363000														101			39		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19560691	19560691	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:19560691C>T	uc002wrl.3	+	3	593	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	132						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGACTTCTTCGTCCCTTCCT	0.502000														77			48		0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594887	41594887	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41594887C>T	uc002opt.3	+	1	243	c.234C>T	c.(232-234)gtC>gtT	p.V78V		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	78					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	p.V78D(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CCCGGCGGGTCGTGGTGCTGT	0.637000														82			26		0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1755118	1755118	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:1755118G>A	uc009zdq.3	+	4	1022	c.780G>A	c.(778-780)aaG>aaA	p.K260K	WNT5B_uc001qjj.3_Silent_p.K260K|WNT5B_uc001qjk.3_Silent_p.K260K|WNT5B_uc001qjl.3_Silent_p.K260K	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	260					Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TCACCCGCAAGGGCCGGCTGG	0.682000														32			17		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15795653	15795653	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15795653G>A	uc002nbl.3	+	7	1065	c.946G>A	c.(946-948)Gag>Aag	p.E316K		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ATTGTCAGATGAGGATATAAG	0.493000														80			18		0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113920566	113920566	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:113920566G>A	uc009xxy.2	-	15	1765	c.1555C>T	c.(1555-1557)Cgt>Tgt	p.R519C	GPAM_uc001kzp.3_Missense_Mutation_p.R519C|GPAM_uc001kzq.1_Missense_Mutation_p.R519C	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	519					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TCAAAATCACGAGCCAGGACT	0.443000														37			8		0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76797772	76797772	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:76797772C>T	uc003hix.3	-	10	1345	c.988G>A	c.(988-990)Gag>Aag	p.E330K	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.E330K	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	330	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTTCTCTTCTCCTCCATCTGC	0.517000														64			18		0	0	1	0	0
TFPI2	7980	broad.mit.edu	37	7	93516176	93516176	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:93516176G>A	uc003umy.1	-	4	739	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_3'UTR|TFPI2_uc003una.1_Missense_Mutation_p.R211C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	222					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	p.R222C(2)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTGGCAAAGCGAAGCTTTGGC	0.328000														121			48		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167993	140167993	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140167993G>A	uc003lhb.2	+	0	2118	c.2118G>A	c.(2116-2118)gcG>gcA	p.A706A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.A706A	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	714					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)			CCATCTGCGCGGTGTCCAGCC	0.682000														76			35		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929324	4929324	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4929324C>T	uc010qyq.2	+	0	725	c.725C>T	c.(724-726)tCc>tTc	p.S242F		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S242S(1)		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)		ACCTGTGTCTCCCACATCTGT	0.468000														166			71		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186544548	186544548	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:186544548C>T	uc003iyg.3	-	12	2397	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.E775K|SORBS2_uc003iyl.3_Missense_Mutation_p.E675K|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.E579K|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	675						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGGCTCTTTCGTGTTTTAAC	0.542000														162			23		0	0	1	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59899274	59899274	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:59899274G>A	uc003jsh.3	-	8	1259	c.1186C>T	c.(1186-1188)Cct>Tct	p.P396S	DEPDC1B_uc011cqm.2_Missense_Mutation_p.P396S|DEPDC1B_uc011cqn.2_Missense_Mutation_p.P369S	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	Homo sapiens DEP domain containing 1B (DEPDC1B), transcript variant 1, mRNA.	396					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.P396S(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				AAGGCCAAAGGGACTTTCAGA	0.418000														67			26		0	0	1	0	0
RAX	30062	broad.mit.edu	37	18	56939814	56939814	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:56939814C>T	uc002lhx.3	-	1	509	c.322G>A	c.(322-324)Gag>Aag	p.E108K	RAX_uc010dpp.3_Intron	NM_013435	NP_038463	Q9Y2V3	RX_HUMAN	Homo sapiens retina and anterior neural fold homeobox (RAX), mRNA.	108					visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E108K(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GGCCGTGCCTCCCCGGGCTCC	0.701000														57			17		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20996624	20996624	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20996624G>A	uc010vbe.2	-	47	7440	c.7440C>T	c.(7438-7440)gtC>gtT	p.V2480V	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2480	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGCCACACCGACCTGCAGTA	0.493000														20			28		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830562	7830562	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7830562G>A	uc010dvt.3	+	3	371	c.253G>A	c.(253-255)Gag>Aag	p.E85K	CLEC4M_uc010xjv.1_Missense_Mutation_p.E57K|CLEC4M_uc002mhy.2_Missense_Mutation_p.E29K|CLEC4M_uc002mih.3_Missense_Mutation_p.E85K|CLEC4M_uc010xjw.2_Missense_Mutation_p.E64K|CLEC4M_uc010dvs.3_Missense_Mutation_p.E84K|CLEC4M_uc010xjx.2_Missense_Mutation_p.E57K|CLEC4M_uc002mhz.3_Missense_Mutation_p.E85K|CLEC4M_uc002mic.3_Missense_Mutation_p.E57K|CLEC4M_uc002mia.3_Missense_Mutation_p.E64K	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	85					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GGAACAATCCGAGCAAGACGC	0.512000														100			37		0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160239672	160239672	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:160239672G>A	uc003qsy.1	+	15	1282	c.1243G>A	c.(1243-1245)Ggg>Agg	p.G415R	PNLDC1_uc003qsx.1_Missense_Mutation_p.G404R	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	404						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CATCCGAGCGGGGGTCCCAAA	0.572000														36			6		0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38144728	38144728	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:38144728C>T	uc001uwo.4	-	18	2376	c.2258G>A	c.(2257-2259)cGa>cAa	p.R753Q	POSTN_uc010tet.2_Missense_Mutation_p.R254Q|POSTN_uc001uwp.4_Missense_Mutation_p.R696Q|POSTN_uc001uwr.3_Missense_Mutation_p.R726Q|POSTN_uc001uwq.3_Missense_Mutation_p.R696Q|POSTN_uc010teu.1_Missense_Mutation_p.R726Q|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	753					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.R753R(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGTAATGATTCGTTCTTCTCG	0.318000														88			17		0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13279769	13279769	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:13279769G>A	uc010gce.1	+	5	1064	c.1058G>A	c.(1057-1059)gGg>gAg	p.G353E	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	353	AMOP.					extracellular region		p.S352S(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GACGCCAGCGGGCCCAAGGAG	0.652000														27			4		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124594501	124594501	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124594501C>T	uc001lgs.3	-	8	2054	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	CUZD1_uc001lgp.3_Missense_Mutation_p.G87E|CUZD1_uc009yad.3_Missense_Mutation_p.G87E|CUZD1_uc009yaf.3_Missense_Mutation_p.G2E|CUZD1_uc001lgr.3_Missense_Mutation_p.G87E|CUZD1_uc010qty.2_Missense_Mutation_p.G87E|CUZD1_uc009yae.3_Missense_Mutation_p.G87E|CUZD1_uc010qtz.2_Missense_Mutation_p.G368E	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	368	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AGAATTATGTCCCATTTCACA	0.358000														70			19		0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182781010	182781010	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:182781010C>T	uc002uoi.3	+	10	2965	c.2643C>T	c.(2641-2643)ttC>ttT	p.F881F	SSFA2_uc002uoh.3_Silent_p.F881F|SSFA2_uc002uoj.3_Silent_p.F881F|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Silent_p.F728F|SSFA2_uc002uol.3_Silent_p.F728F|SSFA2_uc002uom.3_Silent_p.F349F	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	881						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GTAGTGCCTTCGCTTCCCCTT	0.517000														103			11		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46755035	46755035	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:46755035C>T	uc002eei.4	-	9	2101	c.1985_splice	c.e9+1	p.R662_splice	MYLK3_uc010vge.2_Splice_Site_p.R321_splice	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	662	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ACCCCCTTACCTTCTGGCCAG	0.448000														136			15		0	0	1	0	0
LDHD	197257	broad.mit.edu	37	16	75146541	75146541	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:75146541C>T	uc002fdm.3	-	9	1369	c.1317G>A	c.(1315-1317)gaG>gaA	p.E439E	LDHD_uc002fdn.3_Silent_p.E416E	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	Homo sapiens lactate dehydrogenase D (LDHD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	439							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						TGCCCAGTTCCTCGGCGTCAT	0.607000														36			16		0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49228277	49228277	+	Silent	SNP	G	A	A	rs143841455		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49228277G>A	uc001rsm.3	-	11	1477	c.1386C>T	c.(1384-1386)atC>atT	p.I462I		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	462	Helicase ATP-binding.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTGACTCTTCGATCCTGTGGT	0.527000														53			34		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123345767	123345767	+	Silent	SNP	C	T	T	rs141649592	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:123345767C>T	uc003ego.3	-	30	5418	c.5136G>A	c.(5134-5136)caG>caA	p.Q1712Q	MYLK-AS1_uc003egk.3_Intron|MYLK_uc010hrr.3_Silent_p.Q147Q|MYLK_uc011bjv.2_Silent_p.Q512Q|MYLK_uc011bjw.2_Silent_p.Q1712Q|MYLK_uc003egp.3_Silent_p.Q1643Q|MYLK_uc003egq.3_Silent_p.Q1661Q|MYLK_uc003egr.3_Silent_p.Q1592Q|MYLK_uc003egs.3_Silent_p.Q1536Q	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1712	Calmodulin-binding.|Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCTGAAGGCACTGCGTGCAGT	0.507000														63			11		0	0	1	0	0
NAA35	60560	broad.mit.edu	37	9	88611379	88611379	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:88611379C>T	uc004aoi.4	+	11	1080	c.943C>T	c.(943-945)Cga>Tga	p.R315*	NAA35_uc004aoj.4_Nonsense_Mutation_p.R315*	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	315					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		p.R315L(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TACCTTCCCTCGATATGCAAA	0.313000														67			9		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61844389	61844389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61844389C>T	uc001jky.3	-	31	4383	c.4045G>A	c.(4045-4047)Gag>Aag	p.E1349K	ANK3_uc001jkw.3_Missense_Mutation_p.E483K|ANK3_uc009xpa.3_Missense_Mutation_p.E483K|ANK3_uc001jkx.3_Missense_Mutation_p.E527K|ANK3_uc010qih.2_Missense_Mutation_p.E1350K|ANK3_uc001jkz.4_Missense_Mutation_p.E1343K|ANK3_uc001jla.1_Missense_Mutation_p.E415K|ANK3_uc001jlb.1_Missense_Mutation_p.E867K|ANK3_uc001jkv.3_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1349					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						GCGACTTCCTCAAAATTCTCT	0.363000														128			46		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73746301	73746301	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73746301G>A	uc002jpg.3	+	27	3613	c.3426G>A	c.(3424-3426)aaG>aaA	p.K1142K	ITGB4_uc002jph.3_Silent_p.K1142K|ITGB4_uc002jpi.4_Silent_p.K1142K|ITGB4_uc002jpj.3_Silent_p.K1142K	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1142	Fibronectin type-III 1.				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	p.K1142N(2)		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)			GGTCCAGGAAGATCCATTTCA	0.637000											OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			12		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066017	23066017	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:23066017G>T	uc002wsv.3	-	0	961	c.813C>A	c.(811-813)tgC>tgA	p.C271*		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	271	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGTCCTGGTGGCAGCCCCCAT	0.627000														114			39		5.43694e-19	5.46661e-19	1	1	0
MAN2A1	4124	broad.mit.edu	37	5	109124642	109124642	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:109124642C>T	uc003kou.1	+	10	2731	c.1768C>T	c.(1768-1770)Cat>Tat	p.H590Y		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	590					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CAGACTTTTTCATTCGTTAAT	0.303000														66			17		0	0	1	0	0
OR56A5	390084	broad.mit.edu	37	11	5988832	5988832	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5988832C>T	uc010qzu.2	-	0	893	c.893G>A	c.(892-894)aGa>aAa	p.R298K		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	298						integral to membrane|plasma membrane	olfactory receptor activity										CTCCTTGGTTCTCACACCATA	0.463000														23			5		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170685	113170685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113170685G>A	uc010mtz.3	-	37	7532	c.7195C>T	c.(7195-7197)Cat>Tat	p.H2399Y	SVEP1_uc010mty.3_Missense_Mutation_p.H325Y	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2399	Sushi 17.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTTCCAAAATGAAGAGCAGAA	0.458000														26			9		0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94527347	94527347	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94527347G>A	uc001ycj.3	-	3	1408	c.1309C>T	c.(1309-1311)Cgt>Tgt	p.R437C	DDX24_uc010twq.2_Missense_Mutation_p.R394C|DDX24_uc010twr.2_Missense_Mutation_p.R187C	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	437	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		ATCTCAGGACGACGGTTCAGC	0.443000														117			50		0	0	1	0	0
AKR1C4	1109	broad.mit.edu	37	10	5258737	5258737	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:5258737C>T	uc001ihw.2	+	7	943	c.910C>T	c.(910-912)Cga>Tga	p.R304*		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	304					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	CAGAAATTATCGATATGTTGT	0.343000														15			6		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3293298	3293298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3293298G>A	uc002cun.1	-	9	2229	c.2189C>T	c.(2188-2190)tCc>tTc	p.S730F	MEFV_uc021tbw.1_3'UTR|MEFV_uc021tbx.1_Missense_Mutation_p.S310F|MEFV_uc021tby.1_Missense_Mutation_p.S233F|MEFV_uc021tbz.1_Missense_Mutation_p.S149F|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_3'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	730	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	ATTGTAAAAGGAGATGCTTCC	0.542000														106			24		0	0	1	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41430259	41430259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41430259G>A	uc010ehg.1	+	0	90	c.82G>A	c.(82-84)Ggc>Agc	p.G28S	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Missense_Mutation_p.G28S|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TAACTCCCATGGCACCCTCCC	0.587000														72			27		0	0	1	0	0
HRASLS2	54979	broad.mit.edu	37	11	63320447	63320447	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63320447C>T	uc001nxg.1	-	3	537	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K		NM_017878	NP_060348	Q9NWW9	HRSL2_HUMAN	Homo sapiens HRAS-like suppressor 2 (HRASLS2), mRNA.	160					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						TATTGCCTTTCCCGCTTGCTT	0.512000														57			14		0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879200	209879200	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:209879200G>A	uc001hhj.3	+	2	265	c.133G>A	c.(133-135)Ggg>Agg	p.G45R	HSD11B1_uc021pin.1_Missense_Mutation_p.G45R|HSD11B1_uc001hhk.3_Missense_Mutation_p.G45R	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	45					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GGCCAGCAAAGGGATCGGAAG	0.502000														69			34		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111195317	111195317	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:111195317G>A	uc004epl.1	-	1	1251	c.332C>T	c.(331-333)gCt>gTt	p.A111V	TRPC5_uc004epm.1_Missense_Mutation_p.A111V	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	111					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.A111S(1)|p.G110G(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAGCTCCACAGCGCCCACCAC	0.542000														74			17		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141059162	141059162	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:141059162G>A	uc003llm.3	-	3	726	c.648C>T	c.(646-648)gcC>gcT	p.A216A	ARAP3_uc003lln.3_Silent_p.A138A|ARAP3_uc003llo.1_Silent_p.A216A	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	216					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTCTGTCGGGGGCTCCTGGAG	0.572000														61			15		0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129702	1129702	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1129702G>A	uc021taf.1	+	1	905	c.834G>A	c.(832-834)caG>caA	p.Q278Q	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.Q278Q	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	278					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CGCTGCCCCAGGAGCCCGCCT	0.622000														63			15		0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475583	5475583	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5475583C>T	uc010qzf.2	+	0	946	c.865C>T	c.(865-867)Cct>Tct	p.P289S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGCTCAACCCTCTCATTTA	0.463000														148			48		0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48587373	48587373	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48587373G>A	uc003ctv.3	-	2	252	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	PFKFB4_uc003ctx.3_Missense_Mutation_p.R36C|PFKFB4_uc010hkb.3_Missense_Mutation_p.R79C|PFKFB4_uc003ctw.3_5'UTR|PFKFB4_uc010hkc.3_Missense_Mutation_p.R79C|PFKFB4_uc011bbm.2_Missense_Mutation_p.R68C|PFKFB4_uc011bbn.1_Non-coding_Transcript	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	79	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACGTCCCGGCGATACTGGCCA	0.502000														59			25		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11738216	11738216	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11738216G>A	uc002gne.3	+	49	9575	c.9507_splice	c.e49+1	p.K3169_splice	DNAH9_uc010coo.3_Splice_Site_p.K2463_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3169	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTGAACAAGGTAGGAGGACT	0.562000														7			6		0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39281897	39281897	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:39281897G>A	uc002rrk.4	-	4	619	c.578C>T	c.(577-579)cCt>cTt	p.P193L	SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrl.3_5'Flank	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	193					Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TGAGGTGGAAGGCTCTTCGTC	0.279000									Noonan syndrome					137			44		0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14854482	14854482	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:14854482G>A	uc002mzp.1	-	18	2754	c.2298C>T	c.(2296-2298)atC>atT	p.I766I	EMR2_uc010dzs.1_Silent_p.I225I|EMR2_uc010xnw.1_Silent_p.I708I|EMR2_uc002mzo.1_Silent_p.I755I|EMR2_uc002mzq.1_Silent_p.I706I|EMR2_uc002mzr.1_Silent_p.I717I|EMR2_uc002mzs.1_Silent_p.I624I|EMR2_uc002mzt.1_Silent_p.I662I|EMR2_uc002mzu.1_Silent_p.I673I|EMR2_uc010xnx.1_Non-coding_Transcript	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	766					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GCAGGCTGTTGATGATGGTGA	0.607000														127			58		0	0	1	0	0
CIB4	130106	broad.mit.edu	37	2	26863423	26863423	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:26863423G>A	uc002rhm.3	-	1	96	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L		NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN	Homo sapiens calcium and integrin binding family member 4 (CIB4), mRNA.	23							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCTGGTCAGGAAGGTCAGG	0.567000														145			32		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024773	76024773	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:76024773C>T	uc010kbe.3	-	5	1314	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	FILIP1_uc003phy.1_Missense_Mutation_p.E259K|FILIP1_uc003phz.3_Missense_Mutation_p.E160K|FILIP1_uc003pia.3_Missense_Mutation_p.E259K|FILIP1_uc003pib.1_Missense_Mutation_p.E11K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	259										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCAAGTTGTTCAATGTGCATT	0.398000														105			58		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599462	31599462	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31599462C>T	uc003nvb.4	+	15	3261	c.3012C>T	c.(3010-3012)tcC>tcT	p.S1004S	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Silent_p.S1004S	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1004	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.L1003I(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GAAATCTTTCCCCTGCCCCAA	0.592000														18			10		0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49107064	49107064	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49107064G>A	uc002pjn.2	-	3	928	c.863C>T	c.(862-864)tCc>tTc	p.S288F	SPACA4_uc002pjo.3_5'Flank	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	288										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	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;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GAGCGGGCAGGAGGCCGCGTA	0.701000														31			13		0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18112930	18112930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:18112930G>A	uc021veh.1	+	0	655	c.655G>A	c.(655-657)Gat>Aat	p.D219N	KCNS3_uc002rcv.3_Missense_Mutation_p.D219N|KCNS3_uc002rcw.3_Missense_Mutation_p.D219N	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	219					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGAAGTGGATGATCCGGTGCT	0.572000														78			19		0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1616936	1616936	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:1616936C>T	uc002wfm.1	-	2	711	c.646G>A	c.(646-648)Gac>Aac	p.D216N	SIRPG_uc002wfn.1_Missense_Mutation_p.D216N|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	216	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TCCCAGGGGTCCAGTACCACC	0.597000														86			34		0	0	1	0	0
RAD9A	5883	broad.mit.edu	37	11	67161231	67161231	+	Missense_Mutation	SNP	C	T	T	rs144155838	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67161231C>T	uc001okr.3	+	4	512	c.419C>T	c.(418-420)tCg>tTg	p.S140L	RAD9A_uc021qmg.1_Missense_Mutation_p.S64L	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	Homo sapiens RAD9 homolog A (S. pombe) (RAD9A), transcript variant 1, mRNA.	140					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|SH3 domain binding|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GACCCAGCCTCGTGCCCCCAC	0.657000								Other conserved DNA damage response genes						14			7		0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149274851	149274851	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149274851G>A	uc003lrg.4	-	12	1743	c.1623C>T	c.(1621-1623)gcC>gcT	p.A541A	PDE6A_uc021yfs.1_Silent_p.A460A	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	541					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.A541D(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACCGCACCAGGGCCTGTGAAC	0.542000														67			23		0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997813	46997813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46997813C>T	uc002pes.2	-	0	1357	c.910G>A	c.(910-912)Gag>Aag	p.E304K	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_5'UTR	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	304										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ACCGGCTCCTCGTCCGGGGTG	0.582000														112			13		0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157041160	157041160	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:157041160C>T	uc010lqs.3	+	18	2892	c.2580C>T	c.(2578-2580)gcC>gcT	p.A860A	UBE3C_uc003wni.4_Silent_p.A223A	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	860	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACCACCTCGCCTCCCTAGACC	0.512000														173			21		0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69472489	69472489	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:69472489C>T	uc002sfg.3	+	17	1923	c.1567C>T	c.(1567-1569)Ccc>Tcc	p.P523S		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	523	Pro-rich.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ccactgccctcccccgccccc	0.701000									Familial Infantile Hemangioma					7			4		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454440	84454440	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:84454440G>A	uc001vlk.3	-	0	2089	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	401						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCAACAGAATGAGGTTCTTGT	0.438000														267			92		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659731	121659731	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121659731C>T	uc003eep.2	+	21	2220	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F	SLC15A2_uc011bjn.1_Silent_p.F658F	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	689					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GCCTGATCTTCTCCATCATGG	0.458000														77			34		0	0	1	0	0
CH25H	9023	broad.mit.edu	37	10	90966983	90966983	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:90966983G>A	uc001kfz.3	-	0	89	c.67C>T	c.(67-69)Ctc>Ttc	p.L23F		NM_003956	NP_003947	O95992	CH25H_HUMAN	Homo sapiens cholesterol 25-hydroxylase (CH25H), mRNA.	23					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		TGGTCCCAGAGGGGCTGCAGG	0.627000														6			6		0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147803583	147803583	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:147803583C>T	uc003lpf.1	+	12	1761	c.1641C>T	c.(1639-1641)atC>atT	p.I547I	FBXO38_uc003lpg.1_Silent_p.I547I|FBXO38_uc003lph.2_Silent_p.I547I	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	547						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAAGACATCGTCCAAGAAG	0.433000														61			18		0	0	1	0	0
C2orf51	200523	broad.mit.edu	37	2	88825180	88825180	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:88825180C>T	uc002stb.2	+	1	160	c.18C>T	c.(16-18)taC>taT	p.Y6Y		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	Homo sapiens chromosome 2 open reading frame 51 (C2orf51), mRNA.	6						nucleus				large_intestine(2)|lung(11)|prostate(1)|skin(1)	15						GTGTGAAATACCCGGGACAGG	0.547000														155			59		0	0	1	0	0
PSPN	5623	broad.mit.edu	37	19	6375600	6375600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6375600C>T	uc010xja.2	-	1	176	c.176G>A	c.(175-177)cGc>cAc	p.R59H		NM_004158	NP_004149	O60542	PSPN_HUMAN	Homo sapiens persephin (PSPN), mRNA.	59					axon guidance|central nervous system development		growth factor activity			lung(1)|ovary(1)|skin(1)	3						CAGGGCTCGGCGCAGGCGGGC	0.662000														11			5		0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27736193	27736193	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27736193G>A	uc001bof.2	-	7	1557	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	WASF2_uc010ofl.2_Intron	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	Homo sapiens WAS protein family, member 2 (WASF2), transcript variant 1, mRNA.	444	WH2.				G-protein signaling, coupled to cAMP nucleotide second messenger|actin cytoskeleton organization	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TACCTTGACGGATGGCTGAAA	0.572000														78			20		0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48713043	48713043	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:48713043G>A	uc001crn.2	+	14	2001	c.1949G>A	c.(1948-1950)tGg>tAg	p.W650*	SLC5A9_uc001cro.2_Nonsense_Mutation_p.W625*|SLC5A9_uc010omt.1_Nonsense_Mutation_p.W639*|SLC5A9_uc001crp.2_Nonsense_Mutation_p.W292*|SLC5A9_uc010omu.1_Nonsense_Mutation_p.W292*|SLC5A9_uc009vyt.1_Non-coding_Transcript	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	625						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTCTGGAGCTGGTTCTGTGGG	0.577000														29			14		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922862	24922862	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24922862G>A	uc001ywo.3	+	0	2322	c.1848G>A	c.(1846-1848)aaG>aaA	p.K616K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	616					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)		ACCCGGGAAAGACATCAGTCT	0.458000														75			39		0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110901148	110901148	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:110901148G>A	uc002tfn.4	-	15	1759	c.1665C>T	c.(1663-1665)tcC>tcT	p.S555S	NPHP1_uc002tfm.4_Silent_p.S500S|NPHP1_uc002tfl.4_Silent_p.S556S|NPHP1_uc002tfo.4_Silent_p.S437S|NPHP1_uc010ywx.2_Silent_p.S499S|NPHP1_uc010fjv.1_Silent_p.S499S	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	555					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTCTGTTCAAGGATCTCAGTT	0.413000														100			7		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19428817	19428817	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19428817G>A	uc010tcj.1	-	0		c.17293C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ctgaccttgtgatccgcccac	0.493000														17			13		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50713817	50713817	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50713817C>T	uc010enu.1	+	1	242	c.195C>T	c.(193-195)ttC>ttT	p.F65F	MYH14_uc002prq.1_Silent_p.F65F|MYH14_uc002prr.1_Silent_p.F65F	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	65	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TTCACGGGTTCGAGGCGGCGG	0.761000														6			4		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201190778	201190778	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201190778G>A	uc001gwc.3	+	18	10235	c.10105G>A	c.(10105-10107)Gga>Aga	p.G3369R	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						GCTTCGGCCTGGAGAGGGCTA	0.607000														32			14		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057846	152057846	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152057846G>A	uc001ezo.1	-	2	2377	c.2312C>T	c.(2311-2313)tCt>tTt	p.S771F		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	771							calcium ion binding	p.S771Y(2)		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)			GGGGACTGAAGAATTGTGCTC	0.493000														124			26		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21860965	21860965	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21860965G>A	uc001war.2	-	32	6537	c.6472C>T	c.(6472-6474)Cgt>Tgt	p.R2158C	CHD8_uc001was.2_Missense_Mutation_p.R1879C|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	2158					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATCAGGACACGATCCTGAATG	0.463000														151			12		0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105258925	105258925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:105258925G>A	uc003dvx.3	+	6	1533	c.837G>A	c.(835-837)gaG>gaA	p.E279E	ALCAM_uc003dvw.2_Silent_p.E279E|ALCAM_uc003dvy.3_Silent_p.E279E|ALCAM_uc011bhh.1_Silent_p.E228E|ALCAM_uc010hpp.3_Intron	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	279	Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CTCCCCCAGAGGAATTTTTGT	0.393000														188			20		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221126	140221126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140221126C>T	uc003lhs.2	+	0	220	c.220C>T	c.(220-222)Ctt>Ttt	p.L74F	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_uc003lhr.1_Missense_Mutation_p.L74F	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	89	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACCGGGACCTTCTGGAGGT	0.642000														220			24		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656327	12656327	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:12656327G>A	uc002gno.2	+	9	2021	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	MYOCD_uc002gnn.2_Silent_p.E574E|MYOCD_uc002gnp.1_Silent_p.E478E|MYOCD_uc002gnq.2_Silent_p.E293E	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	574					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGCAGGAAGAGGCTGTCTCCA	0.532000														25			28		0	0	1	0	0
VOPP1	81552	broad.mit.edu	37	7	55565375	55565375	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55565375G>A	uc003tqs.3	-	2	305	c.122C>T	c.(121-123)tCc>tTc	p.S41F	VOPP1_uc003tqq.3_Missense_Mutation_p.S32F|VOPP1_uc010kzh.3_Missense_Mutation_p.S38F|VOPP1_uc010kzi.3_Missense_Mutation_p.S24F|VOPP1_uc011kcr.2_5'UTR	NM_030796	NP_110423	Q96AW1	VOPP1_HUMAN	Homo sapiens vesicular, overexpressed in cancer, prosurvival protein 1 (VOPP1), mRNA.	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						GTCCTCGTAGGAGCGGCATCT	0.592000														51			25		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835376	38835376	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38835376C>T	uc003ciq.3	-	0	126	c.126G>A	c.(124-126)agG>agA	p.R42R		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	42					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCTTCTGCTCCCTATGCTTCT	0.522000														143			57		0	0	1	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60028961	60028961	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:60028961C>T	uc002lin.3	+	6	703	c.665C>T	c.(664-666)tCt>tTt	p.S222F	TNFRSF11A_uc010dpv.3_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	222					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	p.A221T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CTCTTCGCGTCTGTGGCCCTG	0.408000														232			93		0	0	1	0	0
ACER3	55331	broad.mit.edu	37	11	76709843	76709843	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:76709843C>T	uc009yum.1	+	6	579	c.475C>T	c.(475-477)Cga>Tga	p.R159*	ACER3_uc010rsg.1_Nonsense_Mutation_p.R117*|ACER3_uc009yul.1_Non-coding_Transcript|ACER3_uc001oxu.2_Non-coding_Transcript|ACER3_uc009yun.1_Nonsense_Mutation_p.R117*|ACER3_uc009yuo.1_Nonsense_Mutation_p.R64*|ACER3_uc010rsh.1_Nonsense_Mutation_p.R122*|ACER3_uc010rsi.1_Nonsense_Mutation_p.R64*|ACER3_uc010rsj.1_Nonsense_Mutation_p.R64*	NM_018367	NP_060837	Q9NUN7	ACER3_HUMAN	Homo sapiens alkaline ceramidase 3 (ACER3), mRNA.	159					ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to Golgi membrane|integral to endoplasmic reticulum membrane	phytoceramidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						ATTAGTACTTCGATCTATTTA	0.323000														34			9		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124846820	124846820	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124846820G>A	uc021rga.1	-	21	3066	c.2949C>T	c.(2947-2949)ccC>ccT	p.P983P	NCOR2_uc021rgb.1_Silent_p.P967P|NCOR2_uc010tbb.2_Silent_p.P984P|NCOR2_uc010tbc.2_Silent_p.P966P|NCOR2_uc021rgc.1_Silent_p.P966P|NCOR2_uc010tba.2_Silent_p.P984P|NCOR2_uc001ugj.1_Silent_p.P984P	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	984					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTCCCGGGGGGGCTCATGGA	0.647000														11			6		0	0	1	0	0
NKX6-1	4825	broad.mit.edu	37	4	85419214	85419214	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:85419214G>A	uc003hpa.1	-	0	174	c.168C>T	c.(166-168)tcC>tcT	p.S56S		NM_006168	NP_006159	P78426	NKX61_HUMAN	Homo sapiens NK6 homeobox 1 (NKX6-1), mRNA.	56	Poly-Ser.				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		gcgacgaggaggacgacgacg	0.746000														4			4		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476877	110476877	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110476877G>A	uc003yne.3	+	48	7920	c.7816G>A	c.(7816-7818)Gtt>Att	p.V2606I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2606					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TCAAAAAAGAGTTCCCCTTGG	0.438000										HNSCC(38;0.096)				95			13		0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84778340	84778340	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84778340C>T	uc010voe.2	+	4	516	c.265C>T	c.(265-267)Cct>Tct	p.P89S	USP10_uc002fii.3_Missense_Mutation_p.P85S|USP10_uc010vof.2_Intron|USP10_uc002fij.3_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	85	Interaction with p53/TP53.				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						CACACTGAACCCTCAGGCCCC	0.463000														58			36		0	0	1	0	0
SIX3	6496	broad.mit.edu	37	2	45169955	45169955	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:45169955G>A	uc002run.2	+	0	919	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K		NM_005413	NP_005404	O95343	SIX3_HUMAN	Homo sapiens SIX homeobox 3 (SIX3), mRNA.	238					visual perception	nucleus		p.R237R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAAGAAACGCGAACTGGCGCA	0.637000														69			14		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156629387	156629387	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:156629387G>A	uc003iov.3	+	6	854	c.318_splice	c.e6-1	p.R106_splice	GUCY1A3_uc003iou.2_Splice_Site_p.R106_splice|GUCY1A3_uc010iqc.2_Splice_Site_p.R106_splice|GUCY1A3_uc010iqd.3_Splice_Site_p.R106_splice|GUCY1A3_uc003iow.3_Splice_Site_p.R106_splice|GUCY1A3_uc003iox.3_Splice_Site_p.R106_splice|GUCY1A3_uc010iqe.3_Splice_Site|GUCY1A3_uc003ioy.3_Splice_Site_p.R106_splice|GUCY1A3_uc003ioz.3_Splice_Site|GUCY1A3_uc003ipa.3_Splice_Site|GUCY1A3_uc003ipb.3_Splice_Site_p.R106_splice	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	106					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AATATTTCCAGGAAATCTTTG	0.264000														47			27		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28968384	28968384	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28968384G>A	uc002kwr.2	+	3	406	c.271G>A	c.(271-273)Ggg>Agg	p.G91R	DSG4_uc002kwq.2_Missense_Mutation_p.G91R	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	91	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCTGGAGTAGGGATTGATCG	0.403000														63			17		0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224345107	224345107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:224345107C>T	uc001hoh.2	+	4	807	c.766C>T	c.(766-768)Cct>Tct	p.P256S	FBXO28_uc009xef.2_3'UTR|FBXO28_uc010pvc.1_Missense_Mutation_p.P51S	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	Homo sapiens F-box protein 28 (FBXO28), transcript variant 1, mRNA.	256										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		CAAGCAAAATCCTTCAAGACA	0.458000														140			26		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528825	157528825	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:157528825C>T	uc003qqp.3	+	18	6511	c.6511C>T	c.(6511-6513)Ccc>Tcc	p.P2171S	ARID1B_uc003qqo.3_Missense_Mutation_p.P2184S|ARID1B_uc003qqn.3_Missense_Mutation_p.P2224S	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	2171					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.P2168fs*6(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCACATGCAGCCCCCGCCCCT	0.557000														52			35		0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217124264	217124264	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:217124264C>T	uc002vgb.3	-	3	2771	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	335						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TGAGGAGGTCCGGGGGTTGGT	0.617000														30			10		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35157400	35157400	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:35157400G>A	uc003teq.1	-	15	1774	c.667C>T	c.(667-669)Cgt>Tgt	p.R223C	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		GAAATATCACGAACAGTCTGT	0.264000														24			24		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153897566	153897566	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:153897566C>T	uc003inf.2	+	10	3198	c.3123C>T	c.(3121-3123)gcC>gcT	p.A1041A		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	1041					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ACACAGTGGCCTCCTCCTCTC	0.637000														93			35		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256431	140256431	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140256431C>T	uc003lic.2	+	0	1501	c.1374C>T	c.(1372-1374)ccC>ccT	p.P458P	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_Silent_p.P458P	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	472	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)			TCGCGCAGCCCGAGTACACAG	0.657000														152			31		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21709108	21709108	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21709108C>T	uc002djh.3	+	8	753	c.752C>T	c.(751-753)tCa>tTa	p.S251L	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.S172L	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	251					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GACTCTGCTTCATGGGTCAGT	0.353000														88			28		0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163138964	163138964	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:163138964G>A	uc002uce.3	-	5	1440	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	406	Helicase ATP-binding.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TAATATCACAGGACTTGACAA	0.373000														71			33		0	0	1	0	0
SLC25A40	55972	broad.mit.edu	37	7	87466116	87466116	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87466116G>A	uc003uje.3	-	10	1208	c.833C>T	c.(832-834)cCt>cTt	p.P278L		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	Homo sapiens solute carrier family 25, member 40 (SLC25A40), nuclear gene encoding mitochondrial protein, mRNA.	278					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					CATATGCAAAGGCATAGAAAC	0.299000														47			27		0	0	1	0	0
SLC16A13	201232	broad.mit.edu	37	17	6940077	6940077	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:6940077C>T	uc002geh.3	+	1	539	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	77						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GCACGAAGTTCGGGCCCAGGC	0.632000														112			15		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356406	40356406	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:40356406G>A	uc003gva.1	+	4	1325	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	437					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	p.D437E(3)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GTGCCTCAAAGACCACAAGGC	0.483000														111			12		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17483289	17483289	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17483289G>A	uc001mnc.3	-	4	789	c.663C>T	c.(661-663)ttC>ttT	p.F221F	ABCC8_uc010rcy.1_Silent_p.F221F	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	221					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCAGATTCACGAAGGGCTGCA	0.582000														93			34		0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75347872	75347872	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:75347872G>A	uc002sng.2	-	1	997	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F	TACR1_uc002snh.3_Missense_Mutation_p.L138F	NM_001058	NP_001049	P25103	NK1R_HUMAN	Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA.	138					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CGGGGCTGGAGGGGATGTATG	0.517000														45			17		0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23729755	23729755	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:23729755C>T	uc002wtp.3	-	1	311	c.240G>A	c.(238-240)ggG>ggA	p.G80G		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	80						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					AGTAATTCACCCCCCCAACGG	0.557000														185			34		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125831637	125831637	+	Silent	SNP	G	A	A	rs139545472		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:125831637G>A	uc003eim.1	-	18	2359	c.2169C>T	c.(2167-2169)ttC>ttT	p.F723F	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.F622F|ALDH1L1_uc003ein.1_Silent_p.F258F	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	723	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTCTCCGCACGAACTCATCAT	0.572000														98			26		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16895700	16895700	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16895700G>A	uc009vos.1	-	22	3370	c.2482C>T	c.(2482-2484)Ccc>Tcc	p.P828S	NBPF1_uc009vot.1_Missense_Mutation_p.P286S|NBPF1_uc001ayz.1_Missense_Mutation_p.P286S|NBPF1_uc010oce.1_Missense_Mutation_p.P557S	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	828	NBPF 4.					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)		GACTCCTGGGGGACTTCCTCC	0.478000														368			28		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183713541	183713541	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:183713541C>T	uc003ivd.1	+	24	5791	c.5716C>T	c.(5716-5718)Cga>Tga	p.R1906*		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1906					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GCAGACCATCCGATCCATTGG	0.542000														53			22		0	0	1	0	0
NOG	9241	broad.mit.edu	37	17	54672217	54672217	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:54672217G>A	uc002iup.2	+	0	1158	c.633G>A	c.(631-633)ggG>ggA	p.G211G		NM_005450	NP_005441	Q13253	NOGG_HUMAN	Homo sapiens noggin (NOG), mRNA.	211					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of BMP signaling pathway|negative regulation of astrocyte differentiation|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity			ovary(1)	1	Breast(9;5.24e-08)					AGCGGCGCGGGGGCCAGCGCT	0.672000														12			3		0	0	1	0	0
PRAMEF8	391002	broad.mit.edu	37	1	12979793	12979793	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12979793G>T	uc001aup.3	+	3	1068	c.985G>T	c.(985-987)Gtc>Ttc	p.V329F		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	329												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGAGGGGTGTCACGCTGAC	0.572000														128			14		1.49906e-05	1.50165e-05	1	1	0
PAXIP1	22976	broad.mit.edu	37	7	154738116	154738116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:154738116G>A	uc022aqg.1	-	19	3196	c.3153C>T	c.(3151-3153)ttC>ttT	p.F1051F	LOC100132707_uc011kvr.2_Non-coding_Transcript|LOC100132707_uc003wlo.3_Non-coding_Transcript|PAXIP1_uc022aqf.1_Silent_p.F1051F|PAXIP1_uc022aqh.1_Silent_p.F1017F|PAXIP1_uc022aqi.1_Silent_p.F1015F	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	Homo sapiens PAX interacting (with transcription-activation domain) protein 1 (PAXIP1), mRNA.	1051	BRCT 6.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CAGTCAGAACGAACTCTGCAT	0.433000														131			68		0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153279637	153279637	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153279637C>T	uc001fbn.1	-	1	215	c.162G>A	c.(160-162)ggG>ggA	p.G54G		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	54					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCACTGCATCCCTGGGAGCT	0.632000														10			5		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427392	119427393	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:119427392_119427393GG>AA	uc001ehl.1	-	7	1768_1769	c.1453_1454CC>TT	c.(1453-1455)cca>TTa	p.P485L	TBX15_uc009whj.1_Missense_Mutation_p.P309L	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	591						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P485L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGAGGAGCCTGGAACTGCCCCA	0.559000														88			28		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209823449	209823449	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:209823449G>A	uc001hhg.3	-	1	433	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	LAMB3_uc009xco.3_Silent_p.L15L|LAMB3_uc001hhh.3_Silent_p.L15L|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Silent_p.L15L	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	15					cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGGGCATGCAGGAGGCCAGGC	0.577000														15			9		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94707034	94707034	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94707034C>T	uc001ycs.1	+	8	1032	c.878C>T	c.(877-879)cCc>cTc	p.P293L		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	293						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ACTATACTTCCCTTAGTGAAA	0.308000														33			10		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15349239	15349239	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15349239G>C	uc002nar.3	-	19	4260	c.4038C>G	c.(4036-4038)gaC>gaG	p.D1346E		NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	1346					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGAAATTCATGTCAATGGTAG	0.468000			T	C15orf55	lethal midline carcinoma of young people									88			24		0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48713025	48713025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:48713025G>A	uc001crn.2	+	14	1983	c.1931G>A	c.(1930-1932)gGa>gAa	p.G644E	SLC5A9_uc001cro.2_Missense_Mutation_p.G619E|SLC5A9_uc010omt.1_Missense_Mutation_p.G633E|SLC5A9_uc001crp.2_Missense_Mutation_p.G286E|SLC5A9_uc010omu.1_Missense_Mutation_p.G286E|SLC5A9_uc009vyt.1_Non-coding_Transcript	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	619						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						AGGTCCTGGGGAAAGTTGCTC	0.557000														26			9		0	0	1	0	0
BCL2L10	10017	broad.mit.edu	37	15	52404827	52404827	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:52404827C>T	uc002abq.3	-	0	146	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K		NM_020396	NP_065129	Q9HD36	B2L10_HUMAN	Homo sapiens BCL2-like 10 (apoptosis facilitator) (BCL2L10), mRNA.	23					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		GTGCCGGGTTCCCGGGCGCAG	0.716000														5			3		0	0	1	0	0
TFCP2	7024	broad.mit.edu	37	12	51512411	51512411	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51512411G>A	uc001rxw.3	-	1	988	c.267C>T	c.(265-267)ctC>ctT	p.L89L	TFCP2_uc001rxv.2_Silent_p.L89L|TFCP2_uc009zlx.2_Silent_p.L89L|TFCP2_uc009zly.1_5'UTR	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.	89					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AACCTTGATTGAGATACGTTA	0.393000														114			11		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33572868	33572868	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33572868G>A	uc002xbi.2	+	13	1185	c.868_splice	c.e13-1	p.G290_splice		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	248	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCTGCCCACAGGGCAAGTTCA	0.662000														92			27		0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48331680	48331680	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:48331680G>A	uc010dpa.3	-	3	464	c.315C>T	c.(313-315)ctC>ctT	p.L105L	MRO_uc010xdn.2_Silent_p.L91L|MRO_uc002lew.4_Silent_p.L91L|MRO_uc010dpb.3_Silent_p.L105L|MRO_uc010dpc.3_Silent_p.L91L|MRO_uc002lex.4_Silent_p.L91L	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	91						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CCAGCAGGTCGAGGACAATTT	0.463000														91			15		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682301	69682301	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69682301C>T	uc003hee.3	+	0	589	c.564C>T	c.(562-564)ttC>ttT	p.F188F	UGT2B10_uc011cam.2_Intron	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	188					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GATTTATTTTCCCTCCTTCCT	0.398000														120			35		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102057327	102057327	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:102057327G>A	uc001kqx.1	-	4	1151	c.768C>T	c.(766-768)ttC>ttT	p.F256F	PKD2L1_uc009xwm.1_Silent_p.F209F	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	256					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	p.G255fs*64(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCCAGTGGGAGAAGCCCCCCA	0.592000														40			8		0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44278350	44278350	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44278350G>A	uc002oxl.3	-	2	1073	c.677C>T	c.(676-678)gCc>gTc	p.A226V		NM_002250	NP_002241	O15554	KCNN4_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA.	226					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	TCACCTCTCGGCCACGGACAG	0.677000											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			6		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122854194	122854194	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:122854194G>A	uc003ieg.2	-	1	293	c.219C>T	c.(217-219)tcC>tcT	p.S73S	TRPC3_uc010inr.2_5'UTR|TRPC3_uc003ief.2_5'UTR|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	0					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTCCCTCCATGGACCTAATCA	0.547000														46			6		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28501425	28501425	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:28501425G>A	uc001zbj.3	-	17	2662	c.2556C>T	c.(2554-2556)ttC>ttT	p.F852F	HERC2_uc001zbl.1_Silent_p.F547F	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	852					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTAAACCAAGGAATTCCGGGT	0.517000														12			9		0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124627180	124627180	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124627180C>T	uc003ehq.2	-	10	1389	c.1350G>A	c.(1348-1350)acG>acA	p.T450T		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	450						extracellular region|integral to membrane|plasma membrane		p.T450T(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CAATATGCTTCGTTTTGTTAT	0.343000														34			16		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10429970	10429970	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10429970C>T	uc003bvt.3	-	5	1337	c.898G>A	c.(898-900)Gac>Aac	p.D300N	ATP2B2_uc003bvv.3_Missense_Mutation_p.D300N|ATP2B2_uc003bvw.3_Missense_Mutation_p.D300N|ATP2B2_uc010hdp.2_Missense_Mutation_p.D300N|ATP2B2_uc010hdo.3_Missense_Mutation_p.D36N	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	300					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCTTTTTTGTCTTTCTTCTCT	0.458000														232			31		0	0	1	0	0
TMEM173	340061	broad.mit.edu	37	5	138855874	138855874	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:138855874G>A	uc003lep.3	-	7	1414	c.1112C>T	c.(1111-1113)cCc>cTc	p.P371L		NM_198282	NP_938023	Q86WV6	TM173_HUMAN	Homo sapiens transmembrane protein 173 (TMEM173), nuclear gene encoding mitochondrial protein, mRNA.	371					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAGAGGGAGGGGCTTTTCCAT	0.592000														6			3		0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3016271	3016271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3016271C>T	uc010zqd.2	+	19	2311	c.1994C>T	c.(1993-1995)tCc>tTc	p.S665F	PTPRA_uc002whj.3_Missense_Mutation_p.S654F|PTPRA_uc002whk.3_Missense_Mutation_p.S645F|PTPRA_uc002whl.3_Missense_Mutation_p.S645F|PTPRA_uc002whm.3_Missense_Mutation_p.S421F|PTPRA_uc002whn.3_Missense_Mutation_p.S645F|PTPRA_uc002who.3_Missense_Mutation_p.S317F	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	654	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGACTGGTGTCCTATGGAGAT	0.532000														28			11		0	0	1	0	0
FBLIM1	54751	broad.mit.edu	37	1	16091552	16091552	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16091552C>T	uc001axd.1	+	3	517	c.74C>T	c.(73-75)gCc>gTc	p.A25V	FBLIM1_uc001axe.1_Missense_Mutation_p.A25V|FBLIM1_uc001axg.1_Missense_Mutation_p.A25V|FBLIM1_uc001axh.1_Missense_Mutation_p.A25V|FBLIM1_uc001axi.1_Missense_Mutation_p.A25V	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	25	Filamin-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			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)		CGCGATGTGGCCGTGGCGGAG	0.672000														86			47		0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72307659	72307659	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:72307659C>T	uc010rrc.2	-	5	713	c.467G>A	c.(466-468)gGg>gAg	p.G156E	PDE2A_uc001oso.3_Missense_Mutation_p.G135E|PDE2A_uc010rra.2_Missense_Mutation_p.G149E|PDE2A_uc001osn.3_Intron|PDE2A_uc010rrb.2_Missense_Mutation_p.G147E|PDE2A_uc010rrd.2_Intron	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	156					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TGCCACGGCCCCAGCCTCCTT	0.647000														25			9		0	0	1	0	0
NTF3	4908	broad.mit.edu	37	12	5603722	5603722	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:5603722C>T	uc001qnl.4	+	0	425	c.342C>T	c.(340-342)ccC>ccT	p.P114P	NTF3_uc001qnk.4_Silent_p.P127P	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	114					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CCTTGGAGCCCCCGCCCTTGT	0.612000														71			21		0	0	1	0	0
RASSF4	83937	broad.mit.edu	37	10	45478097	45478097	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:45478097G>A	uc001jbp.3	+	2	1909	c.360G>A	c.(358-360)cgG>cgA	p.R120R	RASSF4_uc001jbo.3_Silent_p.R89R|RASSF4_uc009xmn.3_Silent_p.R19R|RASSF4_uc001jbq.3_Missense_Mutation_p.G17D|RASSF4_uc001jbt.3_Silent_p.R19R			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	89					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCCCAGACGGCCTAGCTGCC	0.652000														29			7		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43400228	43400228	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43400228C>T	uc003ouy.1	+	2	725	c.510C>T	c.(508-510)gcC>gcT	p.A170A	ABCC10_uc003ouz.1_Silent_p.A127A	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	170						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGCCCATGGCCCGCCTATGCT	0.652000														80			42		0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48245758	48245758	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48245758G>A	uc002iqi.3	+	4	445	c.409G>A	c.(409-411)Gag>Aag	p.E137K	SGCA_uc010wmh.1_Missense_Mutation_p.E35K|SGCA_uc002iqj.3_Missense_Mutation_p.E137K|SGCA_uc010wmi.2_Non-coding_Transcript	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	137			E -> G (in LGMD2D; associated with P-G-A- Q-P-136 ins; dbSNP:rs28933694).|E -> K (in LGMD2D).		muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						ATACCAAGCCGAGTTCCTGGT	0.677000														8			3		0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93142930	93142930	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:93142930C>T	uc001yap.3	+	7	2598	c.2446C>T	c.(2446-2448)Ccc>Tcc	p.P816S	RIN3_uc010auk.3_Missense_Mutation_p.P478S|RIN3_uc001yaq.3_Missense_Mutation_p.P741S|RIN3_uc001yas.1_Missense_Mutation_p.P478S	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	816	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCTCATGGACCCCGCCCTGCA	0.622000														52			12		0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110763690	110763690	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:110763690G>A	uc003vft.4	+	3	1908	c.862G>A	c.(862-864)Gag>Aag	p.E288K	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.E288K|LRRN3_uc003vfs.4_Missense_Mutation_p.E288K|LRRN3_uc022akc.1_Missense_Mutation_p.E288K	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	288						integral to membrane		p.E288E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACACTTAAAAGAGTTGGGGAT	0.333000														85			38		0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81205386	81205386	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81205386C>T	uc001szj.1	-	4	753	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	187	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TGGGGTGTATCGCACCACCAG	0.483000														67			6		0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	375943	375943	+	Missense_Mutation	SNP	C	T	T	rs141910884		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:375943C>T	uc002lol.3	-	0	71	c.28G>A	c.(28-30)Ggg>Agg	p.G10R	THEG_uc002lom.3_Missense_Mutation_p.G10R	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	10					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGCTGGTTCCCGAGTGACCTT	0.692000														62			12		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777406	43777406	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:43777406C>T	uc010skx.2	-	30	4752	c.4752G>A	c.(4750-4752)agG>agA	p.R1584R		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1584	TSP type-1 13.					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)		AAGGAGGGTTCCTGCAATTCT	0.378000														29			7		0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4217164	4217164	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4217164C>T	uc010dtt.1	+	17	2283	c.2007C>T	c.(2005-2007)acC>acT	p.T669T	ANKRD24_uc002lzs.2_Silent_p.T640T|ANKRD24_uc002lzt.2_Silent_p.T641T	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	669										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TCACAGGGACCACAAACATGG	0.617000														12			5		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075309	106075309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106075309G>A	uc001kyf.3	-	2	954	c.501C>T	c.(499-501)ttC>ttT	p.F167F	ITPRIP_uc001kye.3_Silent_p.F167F|ITPRIP_uc001kyg.3_Silent_p.F167F|ITPRIP_uc021pxv.1_Silent_p.F167F	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	167						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						AGTCATCCACGAAGCCTTCCA	0.622000														76			32		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059983	152059983	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152059983G>A	uc001ezo.1	-	2	240	c.175C>T	c.(175-177)Ctt>Ttt	p.L59F		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	59	EF-hand.						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)			ATATTCAGAAGATTTGAATTT	0.363000														48			32		0	0	1	0	0
CNTFR	1271	broad.mit.edu	37	9	34564810	34564810	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:34564810C>T	uc003zup.2	-	3	400	c.106G>A	c.(106-108)Gag>Aag	p.E36K	CNTFR_uc003zuq.2_Missense_Mutation_p.E36K|CNTFR_uc022bgg.1_Missense_Mutation_p.E36K	NM_147164	NP_671693	P26992	CNTFR_HUMAN	Homo sapiens ciliary neurotrophic factor receptor (CNTFR), transcript variant 1, mRNA.	36	Ig-like C2-type.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		CCCAGGCGCTCGTACTGCACA	0.652000														37			15		0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15487565	15487565	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:15487565G>A	uc003nbj.3	+	5	942	c.698G>A	c.(697-699)cGg>cAg	p.R233Q	JARID2_uc011diu.1_Missense_Mutation_p.R97Q|JARID2_uc011div.2_Missense_Mutation_p.R61Q|JARID2_uc011diw.1_Missense_Mutation_p.R195Q	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	233					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGGTCAACACGGGAGAAGGAA	0.493000														40			15		0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4323544	4323544	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4323544C>T	uc002lzy.2	+	12	1548	c.1395C>T	c.(1393-1395)agC>agT	p.S465S	FSD1_uc002maa.2_Silent_p.S278S	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	465	B30.2/SPRY.				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)		GGTGTGGCAGCTTCCAGGTGA	0.682000														20			12		0	0	1	0	0
C1GALT1	56913	broad.mit.edu	37	7	7283191	7283191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:7283191C>T	uc003srb.2	+	3	1148	c.925C>T	c.(925-927)Cac>Tac	p.H309Y	C1GALT1_uc003sra.3_Missense_Mutation_p.H309Y	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	Homo sapiens core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 (C1GALT1), mRNA.	309					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AGTTTCTTTTCACTATGTTGA	0.358000														160			34		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19428056	19428056	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:19428056G>A	uc001bbi.3	-	87	12985	c.12981C>T	c.(12979-12981)acC>acT	p.T4327T	UBR4_uc010ocv.2_5'Flank|UBR4_uc009vph.3_5'Flank|UBR4_uc010ocw.2_Silent_p.T18T|UBR4_uc001bbg.3_Silent_p.T38T|UBR4_uc001bbh.3_Silent_p.T36T	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4327					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGAACACCGGGGTCCGGTAGT	0.537000														120			27		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66189691	66189691	+	Silent	SNP	G	A	A	rs147825645	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66189691G>A	uc001ohx.1	+	1	452	c.276G>A	c.(274-276)ggG>ggA	p.G92G	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	92	PAS 1.				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						CAGCCGAGGGGAAATTGCTCT	0.602000														80			29		0	0	1	0	0
C16orf71	146562	broad.mit.edu	37	16	4797517	4797517	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:4797517G>A	uc002cxn.3	+	8	1916	c.1454G>A	c.(1453-1455)gGg>gAg	p.G485E		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	485										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGTGCCAAGGGGCAGAGCGCC	0.672000														34			11		0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130286073	130286073	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130286073G>A	uc004brh.3	-	4	676	c.474C>T	c.(472-474)ttC>ttT	p.F158F	FAM129B_uc004bri.3_Silent_p.F145F|FAM129B_uc004brj.4_Silent_p.F158F	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	158	PH.						protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGATGAGCGGGAACTGTGTGG	0.602000											OREG0019507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			20		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055504	75055504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75055504C>T	uc001dgg.3	-	11	2206	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E457K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	663	Glu-rich.									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						TCAAAGCTTTCGTCTATTGGC	0.408000														108			26		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124988179	124988179	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:124988179G>A	uc003yqw.3	+	8	931	c.725G>A	c.(724-726)tGg>tAg	p.W242*		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	242	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAGAGACCGTGGGCCAGATTC	0.443000														121			65		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430251	135430251	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:135430251C>T	uc004ezu.1	+	5	4677	c.4386C>T	c.(4384-4386)ttC>ttT	p.F1462F	GPR112_uc010nsb.1_Silent_p.F1257F|GPR112_uc010nsc.1_Silent_p.F1229F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1462					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CACAGACTTTCCCTGAGTCCT	0.423000														45			69		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139717522	139717522	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:139717522C>T	uc011kqv.2	+	12	1792	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F	TBXAS1_uc003vvh.3_Silent_p.F473F|TBXAS1_uc010lne.3_Silent_p.F405F|TBXAS1_uc003vvi.3_Silent_p.F473F|TBXAS1_uc011kqw.2_Silent_p.F453F|TBXAS1_uc003vvj.3_Intron	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	472					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					ACCTGCCCTTCGGGGCCGGCC	0.682000														73			15		0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41739911	41739911	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:41739911G>A	uc003thq.3	-	0	297	c.62C>T	c.(61-63)tCc>tTc	p.S21F	INHBA-AS1_uc003tht.4_Intron|INHBA_uc003thr.3_Missense_Mutation_p.S21F|INHBA-AS1_uc003ths.2_Intron	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	21					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGGGGTGGGGGAACTCCTCAC	0.567000										TSP Lung(11;0.080)				180			87		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32010369	32010369	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32010369G>A	uc003nzl.2	-	39	12269	c.12067C>T	c.(12067-12069)Ccc>Tcc	p.P4023S	TNXB_uc003nzg.1_Missense_Mutation_p.P454S|TNXB_uc003nzh.1_Missense_Mutation_p.P492S	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	4070	Fibronectin type-III 32.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGGGGAAGGGGATCCGCAGC	0.701000														10			6		0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104376924	104376924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:104376924C>T	uc001tkg.3	+	5	848	c.625C>T	c.(625-627)Cgt>Tgt	p.R209C	TDG_uc009zuk.3_Missense_Mutation_p.R205C|TDG_uc010swi.2_Missense_Mutation_p.R66C|TDG_uc010swj.2_Intron	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	209					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TAAAGAATTTCGTGAAGGAGG	0.249000								Base excision repair (BER), DNA glycosylases						146			39		0	0	1	0	0
FAM70B	348013	broad.mit.edu	37	13	114498180	114498180	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:114498180C>T	uc001vuh.3	+	3	339	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	104						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GCTGCGCCATCGTGGACGGCG	0.527000														37			10		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41161881	41161881	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41161881C>T	uc003jmk.2	-	9	1582	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K	C6_uc003jml.1_Missense_Mutation_p.E458K	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	458	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				CTCCCTTTCTCCCATGCCAAA	0.428000														86			27		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711218	140711218	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140711218G>A	uc003lji.2	+	0	967	c.967G>A	c.(967-969)Gat>Aat	p.D323N	PCDHGC5_uc011dan.2_Missense_Mutation_p.D323N	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	324	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)			TCAAGCCCAGGATGGTGCGGG	0.393000														73			25		0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219249889	219249890	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219249889_219249890GG>AA	uc002vhv.3	+	3	633_634	c.293_294GG>AA	c.(292-294)tgg>tAA	p.W98*	SLC11A1_uc010zkb.1_Nonsense_Mutation_p.W98*|SLC11A1_uc010fvp.1_Nonsense_Mutation_p.W98*|SLC11A1_uc010fvq.1_Nonsense_Mutation_p.W31*|SLC11A1_uc010zkc.1_Nonsense_Mutation_p.W31*|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.3_5'UTR|SLC11A1_uc010fvr.3_5'Flank	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	98					L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGCTGCTCTGGGCCACCGTGT	0.624000														91			9		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18624985	18624985	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:18624985C>T	uc003sui.3	+	1	145	c.104C>T	c.(103-105)cCc>cTc	p.P35L	HDAC9_uc003sue.3_Missense_Mutation_p.P35L|HDAC9_uc011jyd.2_Missense_Mutation_p.P35L|HDAC9_uc003suh.3_Missense_Mutation_p.P35L|HDAC9_uc003suj.3_Missense_Mutation_p.P35L|HDAC9_uc011jya.2_Missense_Mutation_p.P77L|HDAC9_uc003sua.1_Missense_Mutation_p.P54L|HDAC9_uc003sud.2_Missense_Mutation_p.P35L|HDAC9_uc011jyc.2_Missense_Mutation_p.P35L|HDAC9_uc011jyb.2_Missense_Mutation_p.P35L|HDAC9_uc003suf.2_Missense_Mutation_p.P63L|HDAC9_uc010kud.2_Missense_Mutation_p.P35L|HDAC9_uc011jye.2_Missense_Mutation_p.P4L|HDAC9_uc011jyf.2_Missense_Mutation_p.P4L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	35					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.P35P(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATGATGATGCCCGTGGTGGAC	0.478000														119			53		0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60549101	60549102	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:60549101_60549102CT>TC	uc001jki.1	+	6	680_681	c.680_681CT>TC	c.(679-681)tct>tTC	p.S227F		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	227					multicellular organismal development		RNA binding	p.P226H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AATTCCCCCTCTATTCAGCATA	0.401000														98			44		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2963962	2963962	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:2963962G>A	uc003smv.3	-	14	2179	c.1845C>T	c.(1843-1845)tcC>tcT	p.S615S		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	615					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)		AGGAGTGGATGGAGGAGGGTC	0.612000			Mis		DLBCL									59			32		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151094619	151094619	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151094619G>A	uc003eyp.3	+	26	4109	c.3980G>A	c.(3979-3981)tGg>tAg	p.W1327*	MED12L_uc011bnz.2_Nonsense_Mutation_p.W1187*|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Nonsense_Mutation_p.W490*	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1327					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGCAATCCTGGTTAGAACTC	0.343000														73			12		0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94847393	94847393	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94847393C>T	uc001ycy.4	-	4	1286	c.732G>A	c.(730-732)atG>atA	p.M244I	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Missense_Mutation_p.M244I|SERPINA1_uc010auy.3_Missense_Mutation_p.M244I|SERPINA1_uc001ycz.4_Missense_Mutation_p.M244I|SERPINA1_uc010auz.3_Missense_Mutation_p.M244I|SERPINA1_uc010ava.3_Missense_Mutation_p.M244I|SERPINA1_uc001ydb.4_Missense_Mutation_p.M244I|SERPINA1_uc010avb.3_Missense_Mutation_p.M244I|SERPINA1_uc001ydc.4_Missense_Mutation_p.M244I|SERPINA1_uc010auw.3_Missense_Mutation_p.M244I|SERPINA1_uc010aux.3_Missense_Mutation_p.M244I|SERPINA1_uc001yda.1_Missense_Mutation_p.M244I	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	244					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AACGCTTCATCATAGGCACCT	0.532000														58			9		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13885322	13885322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13885322C>T	uc003jfd.2	-	18	2801	c.2759G>A	c.(2758-2760)gGa>gAa	p.G920E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	920	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)					GTCAAAATTTCCTTCTTCTCT	0.383000									Kartagener syndrome					42			22		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622674	38622675	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38622674_38622675GG>AA	uc021wvo.1	-	15	3027_3028	c.2975_2976CC>TT	c.(2974-2976)ccc>cTT	p.P992L	SCN5A_uc021wvk.1_Missense_Mutation_p.P992L|SCN5A_uc021wvl.1_Missense_Mutation_p.P992L|SCN5A_uc021wvm.1_Missense_Mutation_p.P992L|SCN5A_uc021wvn.1_Missense_Mutation_p.P992L|SCN5A_uc021wvp.1_Missense_Mutation_p.P992L|SCN5A_uc021wvq.1_Missense_Mutation_p.P992L|SCN5A_uc021wvr.1_Missense_Mutation_p.P992L|SCN5A_uc021wvs.1_Missense_Mutation_p.P992L|SCN5A_uc021wvt.1_Missense_Mutation_p.P992L|SCN5A_uc021wvu.1_Missense_Mutation_p.P992L|SCN5A_uc021wvv.1_Missense_Mutation_p.P992L|SCN5A_uc021wvj.1_Missense_Mutation_p.P858L|SCN5A_uc021wvi.1_Missense_Mutation_p.P858L|SCN5A_uc021wvw.1_Missense_Mutation_p.P603L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	992					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAAGGGCTGCGGGCTTCTGAGG	0.688000														14			6		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87724972	87724972	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:87724972G>A	uc003hpz.3	+	42	7096	c.6616G>A	c.(6616-6618)Ggt>Agt	p.G2206S	PTPN13_uc003hpy.3_Missense_Mutation_p.G2211S|PTPN13_uc003hqa.3_Missense_Mutation_p.G2187S|PTPN13_uc003hqb.3_Missense_Mutation_p.G2015S|PTPN13_uc003hqc.1_Missense_Mutation_p.G572S	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2206				GLLDQ -> VARS (in Ref. 5; CAA56124).		cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGTCCTGCGGGGTTTGCTAGA	0.458000														158			12		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210948733	210948733	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:210948733G>A	uc001hib.2	-	9	2239	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	KCNH1_uc001hic.2_Missense_Mutation_p.S663F	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	690	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.H689N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCGGGAGAAGGAATGGGAGAA	0.473000														31			18		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430821	43430821	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43430821C>T	uc002ovl.4	-	4	856	c.754G>A	c.(754-756)Gag>Aag	p.E252K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.E131K	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	253	Ig-like C2-type 2.				female pregnancy	extracellular region							Prostate(69;0.00682)				TCCTTATTCTCCCTGGGGTTT	0.488000														366			73		0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12845054	12845054	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:12845054G>A	uc003bxk.2	+	1	185	c.136G>A	c.(136-138)Gag>Aag	p.E46K	CAND2_uc003bxj.2_Missense_Mutation_p.E46K	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	46					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CGAGGACAGCGAGCGCAAGGT	0.602000														52			10		0	0	1	0	0
C10orf47	254427	broad.mit.edu	37	10	11911536	11911536	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:11911536C>T	uc001ikx.3	+	3	593	c.439C>T	c.(439-441)Cct>Tct	p.P147S	LOC219731_uc001iky.2_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA.	147	Pro-rich.									central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TGCTGAGACTCCTCCACCTCC	0.667000														35			13		0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75609555	75609555	+	Silent	SNP	C	T	T	rs147867930		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75609555C>T	uc001dgo.3	+	6	1300	c.636C>T	c.(634-636)gcC>gcT	p.A212A	LHX8_uc021oou.1_Silent_p.A212A|LHX8_uc001dgq.3_Silent_p.A151A	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.	212						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TGGAAGGTGCCCTCCTCACAG	0.393000														46			15		0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67502952	67502952	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:67502952G>A	uc004dww.4	-	3	552	c.258C>T	c.(256-258)tcC>tcT	p.S86S	OPHN1_uc011mpg.2_Silent_p.S86S|OPHN1_uc004dwx.3_Silent_p.S86S	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	86					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						ATTCCTTGAAGGATTCAGCTG	0.413000														21			17		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50781399	50781399	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50781399G>A	uc010enu.1	+	29	3932	c.3885G>A	c.(3883-3885)cgG>cgA	p.R1295R	MYH14_uc002prq.1_Silent_p.R1262R|MYH14_uc002prr.1_Silent_p.R1254R|MYH14_uc010ycb.2_5'UTR	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1254					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCGAGCTGCGGGCAGAACTGA	0.642000														25			7		0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135042402	135042402	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135042402G>A	uc004cbh.2	+	1	960	c.184G>A	c.(184-186)Gga>Aga	p.G62R		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	62	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CATCACATGTGGAGACCCCCC	0.587000														35			4		0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66209075	66209075	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:66209075C>T	uc001xin.3	+	10	3402	c.1675C>T	c.(1675-1677)Cga>Tga	p.R559*	FUT8_uc001xio.3_Nonsense_Mutation_p.R559*|FUT8_uc010tsp.2_Nonsense_Mutation_p.R396*|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Nonsense_Mutation_p.R559*|FUT8_uc001xiq.3_Nonsense_Mutation_p.R430*|FUT8_uc021ruy.1_Nonsense_Mutation_p.R430*	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	559	SH3.				L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CTACAAAGTTCGAGAGAAGAT	0.448000														59			21		0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149430317	149430317	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149430317C>T	uc003wfz.3	+	17	2670	c.2271C>T	c.(2269-2271)ctC>ctT	p.L757L	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Silent_p.L365L	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	758	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGAGGCTGCTCCCCCAGGGCC	0.642000														186			47		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65500011	65500011	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65500011C>T	uc002aon.2	-	3	335	c.154_splice	c.e3+1	p.S52_splice		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	52					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ACAACTCACTCTCCAGGGTGT	0.592000														25			27		0	0	1	0	0
NTF3	4908	broad.mit.edu	37	12	5603410	5603410	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:5603410C>T	uc001qnl.4	+	0	113	c.30C>T	c.(28-30)ctC>ctT	p.L10L	NTF3_uc001qnk.4_Silent_p.L23L	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	10					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.L10L(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TGATATTTCTCGCTTATCTCC	0.433000														69			26		0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56646657	56646657	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56646657G>A	uc001skm.4	-	11	1298	c.1208C>T	c.(1207-1209)tCa>tTa	p.S403L		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	403							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						ATTGCTGAGTGAAGACACAAT	0.512000														14			7		0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473988	53473988	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53473988C>T	uc002qan.4	-	3		c.513G>A								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		AAGGAAAAATCTCCAGTGTGA	0.408000														132			13		0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45968358	45968358	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45968358G>A	uc001zvu.3	+	6	907	c.714G>A	c.(712-714)ggG>ggA	p.G238G	SQRDL_uc001zvv.3_Silent_p.G238G	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	238							oxidoreductase activity	p.G238W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CCATTTTCGGGGTTAAGAAGT	0.443000														191			95		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67726390	67726390	+	Missense_Mutation	SNP	C	T	T	rs145119798	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:67726390C>T	uc009xpn.1	-	16	2503	c.2380G>A	c.(2380-2382)Gga>Aga	p.G794R	CTNNA3_uc001jmw.2_Missense_Mutation_p.G794R	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	794					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATGAGCTCTCCTCCCAGGTTC	0.448000														94			37		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324450	79324450	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:79324450C>T	uc010mpk.3	-	7	2864	c.2740G>A	c.(2740-2742)Gaa>Aaa	p.E914K	PRUNE2_uc022bih.1_Missense_Mutation_p.E736K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	914					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTACCTTTTCATATACCTTG	0.398000														208			53		0	0	1	0	0
CTRB1	1504	broad.mit.edu	37	16	75258657	75258657	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:75258657G>A	uc002fds.3	+	6	707	c.685G>A	c.(685-687)Ggc>Agc	p.G229S		NM_001906	NP_001897			Homo sapiens chymotrypsinogen B1 (CTRB1), mRNA.											central_nervous_system(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.166)		GACCCTGGTGGGCATTGTGTC	0.647000														72			19		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50209536	50209536	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50209536G>A	uc010eng.3	+	11	1525	c.1209G>A	c.(1207-1209)gaG>gaA	p.E403E	CPT1C_uc002ppl.4_Silent_p.E369E|CPT1C_uc002ppi.3_Silent_p.E320E|CPT1C_uc002ppk.3_Silent_p.E392E|CPT1C_uc010enh.3_Silent_p.E403E|CPT1C_uc002ppj.3_Silent_p.E403E|CPT1C_uc010ybc.1_Silent_p.E274E|CPT1C_uc010eni.1_Silent_p.E60E	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	403					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		AGGCAGCGGAGGCCCTGGAGG	0.701000														23			5		0	0	1	0	0
PPP1R18	170954	broad.mit.edu	37	6	30652329	30652329	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30652329G>A	uc003nra.3	-	1	1698	c.1467C>T	c.(1465-1467)acC>acT	p.T489T	PPP1R18_uc003nrb.4_Silent_p.T489T	NM_001134870	NP_597728	Q6NYC8	PHTNS_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 18 (PPP1R18), transcript variant 2, mRNA.	489						cytoplasm|cytoskeleton	actin binding										TGGCTGGAGAGGTTGGGGTGG	0.687000														24			4		0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169663684	169663684	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:169663684G>A	uc011bpp.2	-	1		c.4119C>T								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		CAGGGCAGGAGCCCCTGTCAG	0.443000														92			13		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28895627	28895627	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:28895627C>T	uc001usb.3	-	22	3432	c.3147G>A	c.(3145-3147)aaG>aaA	p.K1049K	FLT1_uc010aap.2_Silent_p.K54K|FLT1_uc010aaq.2_Silent_p.K174K|FLT1_uc001usa.3_Silent_p.K267K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1049	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AATCGGGGTTCTTATAAATAT	0.383000														76			35		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238441	3238441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:3238441C>T	uc004crg.4	-	4	5442	c.5285G>A	c.(5284-5286)aGa>aAa	p.R1762K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1762						extracellular region				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)				AATAACTTTTCTCTCTCTCAT	0.512000														11			19		0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55065620	55065620	+	RNA	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55065620G>C	uc021qjb.1	-	0		c.89C>G			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		TGTCTTGCCAGTTGAGGTAGA	0.493000														47			15		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117043327	117043328	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:117043327_117043328GG>AA	uc011mtp.2	-	5	1444_1445	c.1311_1312CC>TT	c.(1309-1314)ttccac>ttTTac	p.H438Y	KLHL13_uc004eqk.3_Missense_Mutation_p.H384Y|KLHL13_uc004eql.3_Missense_Mutation_p.H435Y|KLHL13_uc011mtn.2_Missense_Mutation_p.H275Y|KLHL13_uc011mto.2_Missense_Mutation_p.H429Y|KLHL13_uc011mtq.2_Missense_Mutation_p.H419Y|KLHL13_uc004eqm.3_Missense_Mutation_p.H393Y|KLHL13_uc022cde.1_Missense_Mutation_p.H419Y	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	435					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCACTTAGGTGGAAGAAGGTGC	0.396000														16			18		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96522620	96522620	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96522620C>T	uc010qnz.2	+	0	158	c.158C>T	c.(157-159)tCc>tTc	p.S53F	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	53					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GTCAGCAAATCCTTAACCAAT	0.403000														66			30		0	0	1	0	0
DSCR6	53820	broad.mit.edu	37	21	38380522	38380522	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:38380522C>T	uc002yvv.3	+	2	381	c.171_splice	c.e2+1	p.P57_splice	DSCR6_uc011aec.2_Splice_Site|DSCR6_uc010gnd.3_Splice_Site	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	57						nucleus				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				ACTGGAAGGCCGGTAAGGTTC	0.597000														37			17		0	0	1	0	0
CKMT1A	548596	broad.mit.edu	37	15	43990917	43990917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43990917G>A	uc001zsn.3	+	8	1482	c.1090G>A	c.(1090-1092)Ggc>Agc	p.G364S	CKMT1A_uc010uea.2_Missense_Mutation_p.G395S	NM_001015001	NP_066270	P12532	KCRU_HUMAN	Homo sapiens creatine kinase, mitochondrial 1A (CKMT1A), nuclear gene encoding mitochondrial protein, mRNA.	364	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TGCTGCCACAGGCGGTGTCTT	0.502000														83			49		0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60067864	60067864	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:60067864G>A	uc003jsi.4	-	3	321	c.121C>T	c.(121-123)Cta>Tta	p.L41L	ELOVL7_uc011cqo.2_5'UTR|ELOVL7_uc010iwk.3_Silent_p.L41L|ELOVL7_uc003jsj.4_Silent_p.L28L	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	41					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TAGAATCCTAGGAGGATGGTT	0.423000														17			13		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124982286	124982286	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:124982286C>T	uc003yqw.3	+	5	602	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	132	C2 1.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACTTTGTCTTCGACTTCATTG	0.413000														75			28		0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35544969	35544969	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:35544969C>T	uc011dte.1	-	9	1271	c.1068G>A	c.(1066-1068)agG>agA	p.R356R	FKBP5_uc003okx.2_Silent_p.R356R|FKBP5_uc011dtf.1_Silent_p.R177R|FKBP5_uc003oky.2_Silent_p.R356R	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	356					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CTTCACCCCTCCTATACAAGC	0.453000														223			17		0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16535241	16535241	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:16535241G>A	uc003cay.3	-	1	418	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L		NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	46						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CCAGCACTCAGAGTCGTGAAC	0.547000														207			70		0	0	1	0	0
UBE2W	55284	broad.mit.edu	37	8	74722759	74722759	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:74722759G>A	uc003xzv.3	-	3	369	c.316C>T	c.(316-318)Caa>Taa	p.Q106*	UBE2W_uc003xzt.2_Nonsense_Mutation_p.Q106*|UBE2W_uc003xzu.3_Nonsense_Mutation_p.Q117*|UBE2W_uc003xzw.3_Non-coding_Transcript	NM_018299	NP_060769	Q96B02	UBE2W_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2W (putative) (UBE2W), transcript variant 2, mRNA.	106					protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			CAAACTGATTGGACTGAGAGC	0.378000														83			30		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81743479	81743479	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:81743479C>T	uc010tvu.2	-	3	2374	c.2176G>A	c.(2176-2178)Gag>Aag	p.E726K	STON2_uc001xvk.1_Missense_Mutation_p.E726K|STON2_uc010tvt.2_Missense_Mutation_p.E523K	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	726	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ATCACATTCTCACAGGGAACC	0.552000														145			64		0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1734132	1734132	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:1734132G>A	uc004cqd.3	+	1	256	c.40G>A	c.(40-42)Gac>Aac	p.D14N	ASMT_uc010ncy.3_Missense_Mutation_p.D14N|ASMT_uc004cqe.3_Missense_Mutation_p.D14N	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	14					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTCCTTAATGACTACGCCAA	0.552000														3			4		0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94394743	94394743	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94394743C>T	uc001ybz.2	+	2	623	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Missense_Mutation_p.R38C|FAM181A_uc021saz.1_Missense_Mutation_p.R38C|FAM181A_uc010aus.2_Missense_Mutation_p.R38C|FAM181A_uc001yca.2_Missense_Mutation_p.R38C	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	100										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CGTGGACCATCGCAAGTACCT	0.612000														25			13		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563900	176563900	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176563900G>A	uc001gkz.3	+	2	2324	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N	PAPPA2_uc001gky.1_Missense_Mutation_p.S387N|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	387					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGGTGGCTAGCAGTCTAGAC	0.577000														62			25		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207590	58207590	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:58207590C>T	uc001vhq.1	+	0	1802	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	PCDH17_uc010aec.1_Missense_Mutation_p.R304C	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	304	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGGCCTAATCCGTGTGAAGGG	0.577000														44			18		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899646	133899646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133899646C>T	uc003ytw.3	+	8	2070	c.2029C>T	c.(2029-2031)Cct>Tct	p.P677S		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	677	Thyroglobulin type-1 6.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGGCAGCCAGCCTGCTGGCTC	0.552000														52			16		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15608549	15608549	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:15608549G>A	uc002rcc.1	-	16	1860	c.1834C>T	c.(1834-1836)Ctg>Ttg	p.L612L	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	612								p.L612P(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGAGCCTCCAGGTCTGTGCCT	0.413000														148			40		0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8181439	8181439	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:8181439G>A	uc003sro.4	-	9	1047	c.911C>T	c.(910-912)tCa>tTa	p.S304L	ICA1_uc010ktr.3_Missense_Mutation_p.S333L|ICA1_uc003srm.3_Missense_Mutation_p.S304L|ICA1_uc003srn.4_Missense_Mutation_p.S230L|ICA1_uc003srq.3_Missense_Mutation_p.S304L|ICA1_uc003srr.3_Missense_Mutation_p.S303L|ICA1_uc010kts.3_Intron	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	304					neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTCCTCTAATGAAATTAATCT	0.279000														22			3		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885581	24885581	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24885581G>A	uc001wpf.4	+	8	4944	c.4626G>A	c.(4624-4626)agG>agA	p.R1542R		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1542					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AACTCCGGAGGGATCTGATTT	0.567000														11			9		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106907399	106907399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106907399G>A	uc001kyi.1	+	8	1554	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	443						integral to membrane	neuropeptide receptor activity	p.E443G(1)|p.D442D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGTACAGACGAGAACCAAGT	0.473000														79			30		0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38397257	38397257	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:38397257G>A	uc022bgy.1	+	0	1512	c.1512G>A	c.(1510-1512)gaG>gaA	p.E504E	ALDH1B1_uc004aay.3_Silent_p.E504E	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	504					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CCTACACAGAGGTAAAGACGG	0.532000														29			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065888	9065888	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9065888C>T	uc002mkp.3	-	2	21762	c.21558G>A	c.(21556-21558)gtG>gtA	p.V7186V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7188	Ser-rich.|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						TGGGAATCTCCACATTGGACG	0.507000														147			14		0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111766711	111766711	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:111766711C>T	uc010hqb.2	+	4	648	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	TMPRSS7_uc011bhr.1_Missense_Mutation_p.R15C	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	286					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTACCTGATTCGTCTCTCAAT	0.527000														43			27		0	0	1	0	0
PREB	10113	broad.mit.edu	37	2	27354630	27354630	+	Missense_Mutation	SNP	G	A	A	rs150589957	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27354630G>A	uc002rix.1	-	7	1322	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	PREB_uc002riy.1_Missense_Mutation_p.R285C	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN	Homo sapiens prolactin regulatory element binding (PREB), mRNA.	357					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGGACCACGACCCTTCTCA	0.567000														168			68		0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104230740	104230740	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104230740C>T	uc001kvt.3	+	4	789	c.570C>T	c.(568-570)tcC>tcT	p.S190S	TMEM180_uc001kvs.3_Intron|TMEM180_uc010qql.2_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.3_Silent_p.S190S	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	Homo sapiens transmembrane protein 180 (TMEM180), mRNA.	190						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AGGATTTCTCCTCCTTCCGCG	0.617000														114			48		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101684039	101684039	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:101684039C>T	uc001tia.1	+	6	878	c.722C>T	c.(721-723)tCc>tTc	p.S241F	UTP20_uc009ztz.1_Missense_Mutation_p.S241F	NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	241					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.H240L(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATGTTTCACTCCTGTACAGGC	0.393000														40			10		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167142880	167142880	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:167142880C>T	uc010fpl.3	-	10	1909	c.1568G>A	c.(1567-1569)cGa>cAa	p.R523Q	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.R394Q|SCN9A_uc002uds.1_Missense_Mutation_p.R394Q|SCN9A_uc002udt.1_Missense_Mutation_p.R394Q	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	523						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R523L(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTCATGTGCTCGCCTATGCCC	0.438000														262			71		0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113304061	113304061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:113304061C>T	uc021xcn.1	+	8	1596	c.945C>T	c.(943-945)ttC>ttT	p.F315F	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Silent_p.F315F|SIDT1_uc011big.2_Silent_p.F68F	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	315						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TCAGTGTCTTCATCTTCCTGT	0.413000														202			63		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70917960	70917961	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:70917960_70917961GG>AA	uc021vjc.1	-	7	1071_1072	c.806_807CC>TT	c.(805-807)gcc>gTT	p.A269V	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.A269V|ADD2_uc002sgz.3_Missense_Mutation_p.A269V|ADD2_uc010fdt.2_Missense_Mutation_p.A269V|ADD2_uc002shc.2_Missense_Mutation_p.A269V|ADD2_uc010fdu.2_Missense_Mutation_p.A285V	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	269					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGATCCGATCGGCTTCCTGCTC	0.535000														81			24		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121328208	121328208	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:121328208C>T	uc003yox.3	+	39	4896	c.4631C>T	c.(4630-4632)cCa>cTa	p.P1544L	COL14A1_uc003yoz.3_Missense_Mutation_p.P509L	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1544	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GTTGGTTCACCAGGACGTGAT	0.502000														37			14		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57107002	57107002	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:57107002G>A	uc002lib.3	-	7	892	c.822C>T	c.(820-822)ggC>ggT	p.G274G	CCBE1_uc010dpq.3_Intron|CCBE1_uc002lia.3_Silent_p.G127G	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	274	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GCCCAGGAGGGCCTGGCATAC	0.602000														54			16		0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158369140	158369140	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158369140G>A	uc010pih.2	-	0	117	c.117C>T	c.(115-117)atC>atT	p.I39I		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TGGCCACCAGGATTGTCAAGT	0.483000														36			24		0	0	1	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24533775	24533775	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:24533775G>A	uc003nef.3	+	10	1510	c.1482G>A	c.(1480-1482)gtG>gtA	p.V494V	ALDH5A1_uc003neg.3_Silent_p.V481V	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	481					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	TCTGGAGAGTGGCAGAGCAGC	0.488000														97			32		0	0	1	0	0
RNASE10	338879	broad.mit.edu	37	14	20978633	20978633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20978633G>A	uc001vxp.2	+	1	491	c.87G>A	c.(85-87)atG>atA	p.M29I	RNASE10_uc010tlj.2_Missense_Mutation_p.M1I	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Homo sapiens ribonuclease, RNase A family, 10 (non-active) (RNASE10), mRNA.	1						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CAGGCAAAATGAAGCTGAATC	0.488000														109			37		0	0	1	0	0
UIMC1	51720	broad.mit.edu	37	5	176378527	176378527	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176378527G>A	uc021yil.1	-	8	1558	c.1391C>T	c.(1390-1392)cCa>cTa	p.P464L	UIMC1_uc021yim.1_Missense_Mutation_p.P464L|UIMC1_uc021yin.1_Missense_Mutation_p.P464L|UIMC1_uc003mfd.2_Missense_Mutation_p.P94L|UIMC1_uc003mff.1_Missense_Mutation_p.P94L	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Homo sapiens ubiquitin interaction motif containing 1 (UIMC1), transcript variant 2, mRNA.	464	Necessary for interaction with NR6A1 C- terminus.				G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	K63-linked polyubiquitin binding|histone binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGCTACCTGGAGAGACTTC	0.353000														281			94		0	0	1	0	0
INTS4L1	285905	broad.mit.edu	37	7	64649419	64649419	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:64649419C>T	uc003ttw.3	+	8		c.1200C>T								Homo sapiens integrator complex subunit 4-like 1 (INTS4L1), non-coding RNA.																		CAAGAGGATCCTTCGCAGCAG	0.502000														71			23		0	0	1	0	0
EPT1	85465	broad.mit.edu	37	2	26607905	26607905	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:26607905C>T	uc021veu.1	+	7	957	c.810C>T	c.(808-810)ttC>ttT	p.F270F	EPT1_uc010eyl.1_Intron	NM_033505		Q9C0D9	EPT1_HUMAN	Homo sapiens ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) (EPT1), mRNA.	270					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding										GCTTGCTGTTCATTTTGTCTA	0.358000														48			14		0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124528805	124528805	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:124528805C>T	uc004bln.3	+	8	1478	c.1409C>T	c.(1408-1410)gCc>gTc	p.A470V	DAB2IP_uc004blo.3_Missense_Mutation_p.A374V|DAB2IP_uc004blp.3_5'Flank	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	498	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GAGGTGTTTGCCTCGTGGAGG	0.627000														32			16		0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55044017	55044017	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55044017G>A	uc010yfa.1	+	0		c.109G>A			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GTGGCACCATGGCCCCCAAAC	0.507000														117			51		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55958861	55958861	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:55958861C>T	uc003has.3	-	21	3294	c.2992G>A	c.(2992-2994)Gac>Aac	p.D998N	KDR_uc003hat.1_Missense_Mutation_p.D998N	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	998	Protein kinase.				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			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)	GTCAGGAAGTCCTTATACAGA	0.448000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				52			15		0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172425563	172425563	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:172425563G>A	uc001gik.3	+	3	405	c.207G>A	c.(205-207)agG>agA	p.R69R		NM_139240	NP_640333	O95561	CA105_HUMAN	Homo sapiens chromosome 1 open reading frame 105 (C1orf105), mRNA.	69										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AGGCCAGGAGGAACCAGTGTG	0.532000														142			51		0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45731469	45731469	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45731469C>T	uc002pay.1	-	2	187	c.146G>A	c.(145-147)gGg>gAg	p.G49E		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	49										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CTCCAGGCTCCCCCAGTGCTC	0.667000														109			49		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348928	89348928	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89348928G>A	uc002fmx.1	-	8	4483	c.4022C>T	c.(4021-4023)cCt>cTt	p.P1341L	ANKRD11_uc002fmy.1_Missense_Mutation_p.P1341L|ANKRD11_uc002fnc.1_Missense_Mutation_p.P1341L|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P1298L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1341	Lys-rich.					nucleus		p.L1340L(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CAGCTTCTCAGGGAGGCAGGC	0.592000														52			24		0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538598	4538598	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4538598G>A	uc002mau.3	-	1	409	c.398C>T	c.(397-399)cCg>cTg	p.P133L	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	133			P -> S (in dbSNP:rs966384).			extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGAGGCCCGGGGGCAGCCC	0.632000														46			23		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35802590	35802590	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35802590C>T	uc003zyd.3	+	10	1801	c.1801C>T	c.(1801-1803)Cgt>Tgt	p.R601C	NPR2_uc010mlb.3_Missense_Mutation_p.R601C	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	601	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATACTGTCCTCGTGGGAGTTT	0.488000														65			22		0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65373509	65373509	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65373509G>A	uc001oew.3	-	6	2140	c.1647C>T	c.(1645-1647)ccC>ccT	p.P549P	MAP3K11_uc001oev.3_5'UTR|MAP3K11_uc010rol.2_Silent_p.P292P|MAP3K11_uc001oex.1_Silent_p.P56P	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	549					G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CCAGACGTCGGGGGGACTGGC	0.607000														21			8		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124393810	124393810	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124393810C>T	uc001uft.4	+	56	9489	c.9464C>T	c.(9463-9465)tCg>tTg	p.S3155L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3155	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTTGCCAGGTCGTTTGCTAAG	0.542000														18			13		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70349006	70349006	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70349006G>A	uc001oqc.3	-	14	2012	c.1900C>T	c.(1900-1902)Cac>Tac	p.H634Y	SHANK2_uc010rqn.2_Missense_Mutation_p.H110Y|SHANK2_uc001opz.3_Missense_Mutation_p.H110Y|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.H110Y|SHANK2_uc001opy.3_5'Flank|SHANK2_uc010rqo.1_5'Flank	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	319					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACCTGCCTGTGGCCGACTTTG	0.577000														74			22		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53015326	53015326	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53015326G>A	uc002pzp.4	+	5	1936	c.1692G>A	c.(1690-1692)gaG>gaA	p.E564E		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATAGCGGAGAGAAACCTTACA	0.393000														68			26		0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50294041	50294041	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50294041G>A	uc001jhf.2	-	2	514	c.485C>T	c.(484-486)tCa>tTa	p.S162L		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	162						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CTCAAAGGATGACTCTTCAGA	0.318000														61			12		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181745299	181745299	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181745299C>T	uc009wxt.3	+	37	5397	c.5202C>T	c.(5200-5202)tcC>tcT	p.S1734S	CACNA1E_uc001gow.3_Silent_p.S1734S|CACNA1E_uc009wxs.3_Silent_p.S1715S|CACNA1E_uc001gox.1_Silent_p.S960S	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1734					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						GGGACTCCTCCATCCTGGGGC	0.607000														157			71		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369443	56369443	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56369443C>T	uc002qmd.4	+	2	1106	c.684C>T	c.(682-684)ttC>ttT	p.F228F	NLRP4_uc002qmf.3_Silent_p.F153F|NLRP4_uc010etf.3_Silent_p.F59F	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	228	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GACTCTTGTTCGTCATCGACA	0.552000														81			33		0	0	1	0	0
MFAP5	8076	broad.mit.edu	37	12	8800731	8800731	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8800731G>A	uc001qut.1	-	9	691	c.478C>T	c.(478-480)Cct>Tct	p.P160S	MFAP5_uc001qus.2_Missense_Mutation_p.P150S|MFAP5_uc009zge.1_Missense_Mutation_p.P135S	NM_003480	NP_003471	Q13361	MFAP5_HUMAN	Homo sapiens microfibrillar associated protein 5 (MFAP5), mRNA.	160						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					TCACAGGGAGGAAGTCGGAAG	0.478000														56			14		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560616	210560616	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:210560616C>T	uc002vde.1	+	6	3970	c.3722C>T	c.(3721-3723)gCc>gTc	p.A1241V	MAP2_uc002vdc.1_Missense_Mutation_p.A1241V|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.A1237V	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1241					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GAGATAGAAGCCCAGGGAGAA	0.493000														56			8		0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124012331	124012331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124012331C>T	uc001pzu.3	+	15	2115	c.1906C>T	c.(1906-1908)Cgt>Tgt	p.R636C	VWA5A_uc001pzt.3_Missense_Mutation_p.R636C	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	636								p.D635H(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ACACTCTGACCGTCCTCCTTC	0.468000														107			50		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33700343	33700343	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:33700343G>A	uc001uuw.3	-	6	2083	c.1957C>T	c.(1957-1959)Ccc>Tcc	p.P653S	STARD13_uc001uuu.3_Missense_Mutation_p.P645S|STARD13_uc001uuv.3_Missense_Mutation_p.P535S|STARD13_uc001uux.3_Missense_Mutation_p.P618S|STARD13_uc021rhz.1_Missense_Mutation_p.P645S|STARD13_uc021ria.1_Missense_Mutation_p.P535S	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	653					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TTGTAGTCGGGAACTTTCATC	0.498000														162			61		0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182555890	182555890	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:182555890C>T	uc009wxz.2	-	1	309	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	RNASEL_uc001gpk.3_Missense_Mutation_p.G18S|RNASEL_uc009wya.1_Missense_Mutation_p.G18S	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	18					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GCCCTTCTACCGCTGGAGGAC	0.498000														149			17		0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66859118	66859118	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:66859118G>A	uc001stk.3	-	7	1050	c.809C>T	c.(808-810)tCg>tTg	p.S270L	GRIP1_uc010sta.1_Missense_Mutation_p.S214L|GRIP1_uc001stj.3_5'UTR|GRIP1_uc001stm.3_Missense_Mutation_p.S270L|GRIP1_uc001stl.1_Missense_Mutation_p.S214L	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	270	PDZ 3.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ACAGCACATCGAGGTAGTTAG	0.463000														76			35		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466993	56466993	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56466993C>T	uc002qmh.3	+	2	1640	c.1569C>T	c.(1567-1569)ttC>ttT	p.F523F	NLRP8_uc010etg.3_Silent_p.F523F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	523	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCTCTGTTTCCCACAAAGAC	0.443000														176			61		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8234014	8234014	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:8234014G>A	uc003wsh.4	-	1	1905	c.1905C>T	c.(1903-1905)tgC>tgT	p.C635C		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	635							ATP binding|non-membrane spanning protein tyrosine kinase activity										CCTCTATCCGGCACTGACGAC	0.602000														53			17		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272456	158272456	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:158272456C>A	uc002tzj.1	-	7	885	c.813G>T	c.(811-813)agG>agT	p.R271S	CYTIP_uc010zcl.1_Missense_Mutation_p.R165S	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	271	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TGAAGGCACCCCTGCTGGAGT	0.532000														57			28		1.75199e-13	1.75986e-13	1	1	0
NTNG1	22854	broad.mit.edu	37	1	107979316	107979316	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:107979316C>T	uc001dvh.4	+	6	2003	c.1285C>T	c.(1285-1287)Cat>Tat	p.H429Y	NTNG1_uc001dvc.4_Intron|NTNG1_uc010out.2_Missense_Mutation_p.H395Y|NTNG1_uc001dvf.4_Intron|NTNG1_uc001dvi.3_5'UTR|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Intron|NTNG1_uc009wem.3_Intron	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	429	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GGGCTCAATCCATGATCGTTG	0.478000														31			16		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73563112	73563112	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73563112G>A	uc001jrx.4	+	52	8188	c.7798G>A	c.(7798-7800)Gac>Aac	p.D2600N	CDH23_uc001jsg.4_Missense_Mutation_p.D363N|CDH23_uc001jsh.4_Missense_Mutation_p.D363N|CDH23_uc001jsi.4_Missense_Mutation_p.D363N	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2603	Cadherin 24.				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	p.T2600T(1)		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						GGAGGTCATCGACGTCAATGA	0.622000														11			3		0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55277722	55277722	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55277722A>T	uc001cyb.4	+	5	676	c.622A>T	c.(622-624)Agt>Tgt	p.S208C	C1orf177_uc001cya.4_Missense_Mutation_p.S208C	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	208										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GCTCTAGGGGAGTGGTCTGGG	0.622000														124			26		0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26104708	26104708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26104708G>A	uc001bkm.2	+	8	1700	c.1370G>A	c.(1369-1371)gGc>gAc	p.G457D	MAN1C1_uc009vry.1_Missense_Mutation_p.G277D	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	457					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TTCTCCGGGGGCATGATCGCC	0.612000														44			21		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38141867	38141867	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38141867C>T	uc003chp.1	+	18	2836	c.2815C>T	c.(2815-2817)Cag>Tag	p.Q939*	DLEC1_uc003cho.1_Nonsense_Mutation_p.Q939*|DLEC1_uc010hgv.1_Nonsense_Mutation_p.Q939*|DLEC1_uc003chr.1_Nonsense_Mutation_p.Q45*|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	939					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCTGCACTGCCAGCATCTGGA	0.582000														85			36		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97080982	97080982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:97080982G>A	uc004aup.1	-	6	2057	c.2036C>T	c.(2035-2037)cCa>cTa	p.P679L		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	679										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				CTGAGCAGATGGAGACTGAAG	0.612000														11			5		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103055700	103055700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:103055700C>T	uc001phn.1	+	40	6697	c.6553C>T	c.(6553-6555)Cat>Tat	p.H2185Y	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.H2185Y	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2185					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)		TTGCAGAGATCATGACGAATT	0.363000														67			23		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38596017	38596017	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38596017G>A	uc021wvo.1	-	25	4618	c.4566C>T	c.(4564-4566)ttC>ttT	p.F1522F	SCN5A_uc021wvk.1_Silent_p.F1521F|SCN5A_uc021wvl.1_Silent_p.F1468F|SCN5A_uc021wvm.1_Silent_p.F1504F|SCN5A_uc021wvn.1_Silent_p.F1521F|SCN5A_uc021wvp.1_Silent_p.F1522F|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.F1334F|SCN5A_uc021wvi.1_Silent_p.F1388F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1522					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCACAATGTCGAATATGAAGC	0.502000														85			44		0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2893767	2893767	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:2893767G>A	uc003mug.3	-	4	566	c.445C>T	c.(445-447)Ccg>Tcg	p.P149S	AY927512_uc003mue.3_Intron|SERPINB9_uc003muf.3_5'Flank	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	149					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GAGCTACCCGGCAACAACTCT	0.398000														102			41		0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100176357	100176357	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100176357G>A	uc003uvj.3	-	4	704	c.651C>T	c.(649-651)tcC>tcT	p.S217S	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	217					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGGATTCGGGAGACGCGGT	0.622000														68			7		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169910	207169910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:207169910G>A	uc002vbp.2	+	4	908	c.658G>A	c.(658-660)Gac>Aac	p.D220N		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	220							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAGCAAATGTGACCCAAACAA	0.408000														37			6		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90012335	90012335	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:90012335A>C	uc003kju.3	+	42	9332	c.9236A>C	c.(9235-9237)aAc>aCc	p.N3079T	GPR98_uc003kjt.3_Missense_Mutation_p.N785T|GPR98_uc003kjv.3_Missense_Mutation_p.N679T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3079					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTATCATTTAACAACAGTGAG	0.388000														33			4		0	0	1	0	0
C16orf85	400555	broad.mit.edu	37	16	88620276	88620276	+	Silent	SNP	G	A	A	rs140536808		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:88620276G>A	uc010vox.1	-	1	354	c.354C>T	c.(352-354)ctC>ctT	p.L118L						RecName: Full=Putative uncharacterized protein C16orf85;											kidney(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(80;0.048)		GGGATCTGGGGAGGAAGGAGT	0.582000														49			5		0	0	1	0	0
LOC644189	644189	broad.mit.edu	37	19	36913052	36913052	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36913052C>T	uc002odz.1	+	0		c.977C>T								Homo sapiens acyl-CoA thioesterase 4 pseudogene (LOC644189), non-coding RNA.																		TGGAGTACTTCGAAGAAGCCC	0.507000														113			50		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126398443	126398443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126398443C>T	uc003ifj.4	+	12	12427	c.12427C>T	c.(12427-12429)Cct>Tct	p.P4143S	FAT4_uc011cgp.2_Missense_Mutation_p.P2406S|FAT4_uc003ifi.1_Missense_Mutation_p.P1621S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4143	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAATGGAAGGCCTCTGGAACC	0.413000														139			52		0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22006318	22006318	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:22006318G>A	uc003xav.3	-	7	1291	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A	LGI3_uc010ltu.3_Silent_p.A310A	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	334					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CGATGCGGAAGGCTTCTAGGT	0.607000														32			13		0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49094946	49094946	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49094946G>A	uc010hkq.3	-	3	983	c.687C>T	c.(685-687)ccC>ccT	p.P229P	QRICH1_uc003cvu.3_Silent_p.P229P|QRICH1_uc003cvv.3_Silent_p.P229P|QRICH1_uc021wxr.1_Silent_p.P166P	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	229	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCCCTTCCCGGGGTGAGCCCT	0.632000														45			24		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79328522	79328522	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:79328522C>T	uc010mpk.3	-	6	996	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	PRUNE2_uc022bih.1_Missense_Mutation_p.R113Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	291					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCAATCTGTCGTCTCGGCTG	0.502000														9			3		0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111572220	111572220	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:111572220C>T	uc001plt.3	+	5	766	c.648C>T	c.(646-648)ccC>ccT	p.P216P		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	Homo sapiens salt-inducible kinase 2 (SIK2), mRNA.	216	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GAGCTCTGCCCTTTGATGGAC	0.423000														201			20		0	0	1	0	0
RYK	6259	broad.mit.edu	37	3	133894509	133894509	+	Missense_Mutation	SNP	G	A	A	rs144378986	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:133894509G>A	uc003eqc.1	-	13	1614	c.1516C>T	c.(1516-1518)Cgt>Tgt	p.R506C	RYK_uc003eqd.1_Missense_Mutation_p.R503C	NM_001005861	NP_001005861	P34925	RYK_HUMAN	Homo sapiens RYK receptor-like tyrosine kinase (RYK), transcript variant 1, mRNA.	504	Protein kinase.				Wnt receptor signaling pathway|corpus callosum development|positive regulation of MAPKKK cascade	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						GCCATCCAACGAACTGGCCTG	0.473000														136			65		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587530	179587530	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179587530T>C	uc021vsy.1	-	72	18589	c.18364A>G	c.(18364-18366)Act>Gct	p.T6122A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T2783A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7049	Ig-like 42.						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)			TATTCAGGAGTTGGCCGTAAT	0.418000														30			10		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107684286	107684286	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107684286C>T	uc010ljo.1	-	28	4466	c.4382G>A	c.(4381-4383)aGg>aAg	p.R1461K	LAMB4_uc003vey.2_Missense_Mutation_p.R1461K|LAMB4_uc010ljp.1_Missense_Mutation_p.R430K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1461	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CAGTTTTTCCCTCAGCTGTAA	0.323000														61			19		0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30433256	30433256	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30433256G>A	uc002wwt.1	-	0	165	c.90C>T	c.(88-90)gcC>gcT	p.A30A		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	30					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA 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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						AGCTCTGGATGGCCATAGCAA	0.662000														91			24		0	0	1	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692252	31692252	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:31692252C>T	uc002ynw.3	-	0	356	c.102G>A	c.(100-102)gtG>gtA	p.V34V		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA.	34						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CTCCACAGCTCACGCTGGTAG	0.557000														91			38		0	0	1	0	0
LOC646762	646762	broad.mit.edu	37	7	29690529	29690529	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:29690529G>A	uc003tad.4	-	1		c.1476C>T								Homo sapiens uncharacterized LOC646762 (LOC646762), non-coding RNA.																		TGATCGCCAAGACCCTTCTTC	0.582000														10			5		0	0	1	0	0
FOXA3	3171	broad.mit.edu	37	19	46375450	46375450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46375450G>A	uc002pdr.3	+	1	384	c.187G>A	c.(187-189)Gga>Aga	p.G63R		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	63					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		ACTGCCCTCAGGACCCCTGGC	0.706000														53			20		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803596	185803597	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:185803596_185803597GG>AA	uc002uph.3	+	3	4067_4068	c.3473_3474GG>AA	c.(3472-3474)ggg>gAA	p.G1158E		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	1158						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTTTGTCCTGGGAACCAGCCAA	0.510000														131			60		0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55319263	55319263	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55319263G>A	uc001cyc.1	-	7	1370	c.1241C>T	c.(1240-1242)cCg>cTg	p.P414L	DHCR24_uc010ooi.1_Missense_Mutation_p.P57L|DHCR24_uc010ooj.1_Missense_Mutation_p.P228L|DHCR24_uc010ook.1_Missense_Mutation_p.P373L	NM_014762	NP_055577	Q15392	DHC24_HUMAN	Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA.	414					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CAGGATGAACGGACACAGCCA	0.577000														23			10		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440711	124440711	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124440711G>A	uc010san.2	+	0	747	c.747G>A	c.(745-747)ggG>ggA	p.G249G		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E248K(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		CCACAGAGGGGAGATCCAAAG	0.478000														89			28		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14819258	14819258	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:14819258C>T	uc003zlm.3	-	14	3336	c.2520G>A	c.(2518-2520)tgG>tgA	p.W840*	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	840					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.S840fs*8(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GGAGATCGCCCCAAGAAAATG	0.428000														30			16		0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151177266	151177266	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:151177266C>T	uc003ilo.4	+	16	2973	c.2219C>T	c.(2218-2220)cCc>cTc	p.P740L	DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Missense_Mutation_p.P723L|DCLK2_uc003iln.4_Missense_Mutation_p.P722L	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	723	Pro-rich.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CCAGTTCCTCCCTCAGTGGAG	0.647000														31			4		0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180359940	180359940	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:180359940C>T	uc010hxe.3	-	12	1830	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	572					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAGCATTTCTCGAGTACGCTT	0.323000														24			10		0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52568891	52568891	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52568891G>A	uc010ydh.1	-	6	2704	c.2244C>T	c.(2242-2244)tcC>tcT	p.S748S	ZNF841_uc002pyl.1_Silent_p.S632S	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	632				L -> P (in Ref. 1; BAC04190).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GGGTTGTAGTGGAGTTAAAGA	0.428000														17			12		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116975543	116975543	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:116975543G>A	uc001lcg.3	+	8	1823	c.1437G>A	c.(1435-1437)aaG>aaA	p.K479K		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	479						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAATAACAAAGTCCATTTATG	0.363000														62			25		0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100380924	100380924	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:100380924G>A	uc001ygr.3	+	15	1768	c.1699G>A	c.(1699-1701)Gga>Aga	p.G567R	EML1_uc010tww.2_Missense_Mutation_p.G536R|EML1_uc001ygs.3_Missense_Mutation_p.G548R	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	548						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGAGCTCTGGGGACTGGCCAT	0.537000														46			6		0	0	1	0	0
GP9	2815	broad.mit.edu	37	3	128780587	128780587	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:128780587C>T	uc003elm.2	+	2	192	c.5C>T	c.(4-6)cCt>cTt	p.P2L	GP9_uc021xdn.1_Missense_Mutation_p.P2L	NM_000174	NP_000165	P14770	GPIX_HUMAN	Homo sapiens glycoprotein IX (platelet) (GP9), mRNA.	2					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	TGTCCCATGCCTGCCTGGGGA	0.682000														16			6		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022300	18022300	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:18022300C>T	uc021trm.1	+	0	405	c.186C>T	c.(184-186)ggC>ggT	p.G62G	MYO15A_uc021trl.1_Silent_p.G62G	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	62	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCTTCTGGGGCCTCCACACCG	0.632000														13			8		0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13150667	13150667	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:13150667G>A	uc010mia.1	-	23	3530	c.3473C>T	c.(3472-3474)cCa>cTa	p.P1158L	MPDZ_uc010mhx.3_Missense_Mutation_p.P50L|MPDZ_uc011lmm.2_Missense_Mutation_p.P50L|MPDZ_uc003zkz.4_Intron|MPDZ_uc010mhz.3_Missense_Mutation_p.P1158L|MPDZ_uc011lmn.2_Missense_Mutation_p.P1158L|MPDZ_uc010mhy.3_Missense_Mutation_p.P1158L|MPDZ_uc003zlb.4_Missense_Mutation_p.P1158L	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1158	PDZ 7.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGATTTGCTTGGTTCTCTCCA	0.403000														34			15		0	0	1	0	0
ABHD5	51099	broad.mit.edu	37	3	43753252	43753252	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:43753252C>T	uc003cmx.3	+	3	668	c.558C>T	c.(556-558)gaC>gaT	p.D186D		NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN	Homo sapiens abhydrolase domain containing 5 (ABHD5), mRNA.	186					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		AACGACCAGACCTTGCTGATC	0.453000														103			46		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1890603	1890603	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1890603C>T	uc001aim.1	-	15	1963	c.1807G>A	c.(1807-1809)Ggc>Agc	p.G603S	KIAA1751_uc009vkz.1_Missense_Mutation_p.G603S	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	603								p.T602M(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GAAAACTCGCCCGTCTGAGCC	0.438000														86			22		0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25775392	25775392	+	Nonsense_Mutation	SNP	G	A	A	rs146140738	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:25775392G>A	uc003cdl.3	-	7	1339	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	NGLY1_uc010hfg.3_Nonsense_Mutation_p.R393*|NGLY1_uc003cdm.3_Nonsense_Mutation_p.R411*|NGLY1_uc011awo.2_Nonsense_Mutation_p.R369*|NGLY1_uc003cdk.3_Non-coding_Transcript	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA.	411					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	p.R411*(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ATAGTGTCTCGAAGTAATGCT	0.358000														88			21		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835510	247835510	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247835510C>T	uc001idi.1	-	0	834	c.834G>A	c.(832-834)gtG>gtA	p.V278V		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V278V(4)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATGTGGGAGTCACAAGAGTAT	0.438000														122			11		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3730588	3730588	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3730588G>A	uc010xhv.2	+	3	554	c.554G>A	c.(553-555)gGt>gAt	p.G185D	TJP3_uc010xhs.2_Missense_Mutation_p.G166D|TJP3_uc010xht.2_Missense_Mutation_p.G130D|TJP3_uc010xhu.2_Missense_Mutation_p.G175D|TJP3_uc010xhw.2_Missense_Mutation_p.G185D	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	166						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)		AGGAGCCCAGGTGGTGGCTCT	0.706000														59			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179633472	179633472	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179633472G>A	uc021vsy.1	-	37	9316	c.9091C>T	c.(9091-9093)Cac>Tac	p.H3031Y	TTN_uc021vsz.1_Missense_Mutation_p.H2985Y|TTN_uc021vta.1_Missense_Mutation_p.H2985Y|TTN_uc021vtb.1_Missense_Mutation_p.H2985Y|TTN_uc002unb.2_Missense_Mutation_p.H3031Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3031	Ig-like 17.						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)			TCCCCAAAGTGAACATTCCTG	0.408000														62			17		0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8422107	8422107	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:8422107G>A	uc002glm.3	-	20	2442	c.2346C>T	c.(2344-2346)atC>atT	p.I782I	MYH10_uc002gll.3_Silent_p.I751I|MYH10_uc010cnx.3_Silent_p.I760I	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	751	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTAAAGCCCGGATCTAAGAGA	0.348000														33			28		0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6590866	6590866	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:6590866G>A	uc002gdj.3	-	10	1645	c.1557C>T	c.(1555-1557)caC>caT	p.H519H	SLC13A5_uc010clq.3_Silent_p.H476H|SLC13A5_uc002gdk.3_Silent_p.H502H|SLC13A5_uc010vtf.2_Intron	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	519						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CAACCTTGAGGTGCCCATAGG	0.498000														66			36		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127685093	127685093	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:127685093G>A	uc003kuu.3	-	22	3374	c.2935C>T	c.(2935-2937)Cat>Tat	p.H979Y	FBN2_uc003kuv.2_Missense_Mutation_p.H946Y	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	979	EGF-like 14; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACTCGCAATGAAAAGATCCC	0.478000														37			22		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106124535	106124535	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106124535G>A	uc001kyh.3	+	3	619	c.485G>A	c.(484-486)aGa>aAa	p.R162K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	162								p.E161K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACAAAGGAGAGAGACCAGCTC	0.458000														60			22		0	0	1	0	0
TNFSF9	8744	broad.mit.edu	37	19	6534669	6534669	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6534669C>T	uc002mfh.2	+	2	395	c.357C>T	c.(355-357)tcC>tcT	p.S119S		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	119					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CAGGCGTGTCCCTGACGGGGG	0.592000														13			5		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433422	140433422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140433422G>A	uc003lik.1	+	0	2444	c.2367G>A	c.(2365-2367)atG>atA	p.M789I		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	789					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGATAAAAATGGAGGCTGGCT	0.448000														98			40		0	0	1	0	0
SPI1	6688	broad.mit.edu	37	11	47380496	47380496	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:47380496G>A	uc001nfb.1	-	3	618	c.395C>T	c.(394-396)tCa>tTa	p.S132L	SPI1_uc001nfc.1_Missense_Mutation_p.S131L|SLC39A13_uc001nfd.3_Intron|SPI1_uc009ylp.1_Missense_Mutation_p.S125L	NM_001080547	NP_001074016	P17947	SPI1_HUMAN	Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA.	131					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	RNA binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		CTCCTCATCTGAGCTGGGCTG	0.692000														4			5		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48139140	48139140	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:48139140G>A	uc002efc.1	-	18	2929	c.2583C>T	c.(2581-2583)ttC>ttT	p.F861F	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	861	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ACACCAGCATGAACACCATGC	0.572000														58			27		0	0	1	0	0
EIF2D	1939	broad.mit.edu	37	1	206778857	206778857	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:206778857G>A	uc001heh.2	-	4	635	c.426C>T	c.(424-426)gcC>gcT	p.A142A	EIF2D_uc009xbw.2_Silent_p.A142A|EIF2D_uc010prw.1_Missense_Mutation_p.P128S	NM_006893	NP_008824	P41214	EIF2D_HUMAN	Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA.	142	PUA.				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGGCTACAGGGGCTCTAAGAA	0.512000														25			9		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94288954	94288954	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:94288954A>G	uc003kkx.2	-	2	950	c.950T>C	c.(949-951)gTt>gCt	p.V317A	MCTP1_uc003kkv.2_Missense_Mutation_p.V96A|MCTP1_uc003kkw.2_Missense_Mutation_p.V96A|MCTP1_uc003kkz.2_5'UTR	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	317	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AAGATGATCAACCAGAATACA	0.353000														25			6		0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61231327	61231327	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61231327G>A	uc010xeo.2	+	4	679	c.679G>A	c.(679-681)Gtg>Atg	p.V227M	SERPINB12_uc010xen.2_Missense_Mutation_p.V207M	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	207			K -> E (in dbSNP:rs35582068).		negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TGAAAACACGGTGGATGCACC	0.408000														95			8		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51383417	51383417	+	Silent	SNP	G	A	A	rs139544303		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:51383417G>A	uc001wyu.3	-	8	1162	c.1035C>T	c.(1033-1035)ctC>ctT	p.L345L	PYGL_uc010tqq.2_Silent_p.L311L|PYGL_uc010anz.1_Silent_p.L148L	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	345				AL -> RI (in Ref. 1; AAA52577).	glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CAGGGATCGCGAGTGCAGGGT	0.483000														73			39		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51220090	51220090	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51220090G>A	uc002psx.1	-	0	106	c.87C>T	c.(85-87)tcC>tcT	p.S29S		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	29					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCCCGTCTGGGGAGCTGTCGG	0.711000														6			10		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666901	12666901	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:12666901C>T	uc002gno.2	+	13	3200	c.2901C>T	c.(2899-2901)ttC>ttT	p.F967F	MYOCD_uc002gnn.2_Silent_p.F919F|MYOCD_uc002gnq.2_Silent_p.F643F	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	919					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACATCGATTTCCTGGATGTCA	0.517000														26			17		0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173883494	173883494	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:173883494G>A	uc002uhv.4	+	21	2306	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K	RAPGEF4_uc002uhw.4_Missense_Mutation_p.E563K	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	707					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity	p.G706R(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GGGCTCCGGGGAGGGCCTGAT	0.502000														100			19		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21236075	21236075	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21236075C>T	uc002red.3	-	24	4301	c.4173G>A	c.(4171-4173)atG>atA	p.M1391I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1391					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.H1390N(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)	AGTCAGCCTTCATGTGGTAAC	0.532000														120			58		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20856143	20856143	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20856143G>A	uc001vxe.3	-	17	2645	c.2605C>T	c.(2605-2607)Cca>Tca	p.P869S	TEP1_uc010ahk.3_Missense_Mutation_p.P219S|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.P761S	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	869					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTCTTTCCTGGGGGTGGTGGA	0.512000														61			21		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771847	143771847	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143771847G>A	uc011ktx.2	+	0	535	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CTTTTTCTGTGAAATTATGGC	0.463000														161			65		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152647133	152647133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:152647133G>A	uc021zhb.1	-	77	15621	c.15398C>T	c.(15397-15399)tCg>tTg	p.S5133L	SYNE1_uc003qot.4_Missense_Mutation_p.S5062L|SYNE1_uc003qou.4_Missense_Mutation_p.S5133L|SYNE1_uc010kiz.3_Missense_Mutation_p.S888L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5133					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.T5132S(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGACTAGACGAAGTCTTCAA	0.348000										HNSCC(10;0.0054)				28			22		0	0	1	0	0
VSX2	338917	broad.mit.edu	37	14	74726416	74726416	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:74726416C>T	uc001xpq.3	+	3	781	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S		NM_182894	NP_878314	P58304	VSX2_HUMAN	Homo sapiens visual system homeobox 2 (VSX2), mRNA.	231	CVC.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GCACTCCATCCCCCTGCCCGA	0.647000														62			21		0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266583	107266583	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107266583T>C	uc011lvm.2	+	0	40	c.40T>C	c.(40-42)Ttc>Ctc	p.F14L		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTATTTTTCTTCCTGGGATT	0.383000														70			10		0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131476552	131476552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131476552C>T	uc004bvw.3	+	10	1782	c.1389C>T	c.(1387-1389)ccC>ccT	p.P463P	PKN3_uc010myh.3_Silent_p.P463P|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	463	Pro-rich.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						ACCTGCTGCCCCCCTGCAGCT	0.647000														124			48		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720094	140720094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140720094C>T	uc003ljk.2	+	0	1741	c.1556C>T	c.(1555-1557)tCc>tTc	p.S519F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.S519F	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	521	Cadherin 5.				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)			GCACTGCGCTCCTTTGATTAT	0.507000														117			68		0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24436349	24436349	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:24436349G>A	uc002kwa.3	-	4	861	c.798C>T	c.(796-798)ttC>ttT	p.F266F	AQP4_uc002kvz.3_Silent_p.F244F	NM_001650	NP_001641	P55087	AQP4_HUMAN	Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA.	266					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CAGCTTTGCTGAAGGCTTCTT	0.488000														266			62		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94899510	94899510	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:94899510G>A	uc002btj.3	+	7	1215	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	MCTP2_uc010urg.1_Missense_Mutation_p.D384N|MCTP2_uc002bti.2_Missense_Mutation_p.D384N|MCTP2_uc010boj.3_Missense_Mutation_p.D113N|MCTP2_uc010bok.3_Missense_Mutation_p.D384N|MCTP2_uc002btk.4_5'UTR|MCTP2_uc002btl.3_5'UTR	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	384	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAAACTGGGAGATCAGAGGTA	0.333000														66			57		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94716543	94716543	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94716543C>T	uc001ycs.1	+	14	1800	c.1646C>T	c.(1645-1647)aCt>aTt	p.T549I		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	549						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.R548Q(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GCTTCACGAACTCTATGCATT	0.348000														54			27		0	0	1	0	0
OTC	5009	broad.mit.edu	37	X	38262948	38262948	+	Missense_Mutation	SNP	G	A	A	rs72558413		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:38262948G>A	uc004def.4	+	5	832	c.618G>A	c.(616-618)atG>atA	p.M206I		NM_000531	NP_000522	P00480	OTC_HUMAN	Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	206			M -> I (in OTCD).|M -> R (in OTCD; neonatal).		arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CCATCATGATGAGCGCAGCGA	0.483000														21			29		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096187	167096187	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167096187G>A	uc001geb.1	+	4	1835	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	607					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAACAAGGAGGAGGTGGTGGA	0.612000														30			5		0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378681	114378682	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:114378681_114378682CC>TT	uc003pwg.4	-	1	812_813	c.780_781GG>AA	c.(778-783)acggaa>acAAaa	p.E261K	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Missense_Mutation_p.E261K	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	261					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GGCAGAGGTTCCGTGATGAGGC	0.431000														43			22		0	0	1	0	0
DECR2	26063	broad.mit.edu	37	16	461033	461033	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:461033C>T	uc002chb.3	+	6	724	c.618C>T	c.(616-618)ctC>ctT	p.L206L	DECR2_uc002chc.3_Silent_p.L122L|DECR2_uc002chd.3_Silent_p.L122L|DECR2_uc002che.1_Non-coding_Transcript	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.	206						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				TCAACAGCCTCGCCCCTGGCC	0.642000														11			4		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165179939	165179939	+	Silent	SNP	C	T	T	rs146395249	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:165179939C>T	uc001gcz.2	-	5	938	c.744G>A	c.(742-744)gcG>gcA	p.A248A	LMX1A_uc021pdz.1_Silent_p.A248A|LMX1A_uc021pdy.1_5'UTR|LMX1A_uc001gcw.2_5'UTR	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	248	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AGGTTACCTTCGCTCTCTGGT	0.473000														40			20		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71479591	71479591	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:71479591G>A	uc003kbw.4	+	2	549	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	MAP1B_uc010iyw.1_Missense_Mutation_p.R103Q|MAP1B_uc010iyx.1_5'UTR|MAP1B_uc010iyy.1_5'UTR	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	103						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTTCATCACCGAAGTGACGTT	0.493000														92			31		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104898241	104898241	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:104898241G>A	uc003yls.3	+	1	989	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	RIMS2_uc003ylp.3_Missense_Mutation_p.E472K|RIMS2_uc003ylw.2_Missense_Mutation_p.E280K|RIMS2_uc003ylq.3_Missense_Mutation_p.E280K|RIMS2_uc003ylr.3_Missense_Mutation_p.E280K	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	503					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.L249P(1)		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)			AACAAAACGGGAAAAAATGGA	0.448000										HNSCC(12;0.0054)				45			14		0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10155574	10155574	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:10155574C>T	uc021ogc.1	+	2	955	c.267C>T	c.(265-267)ccC>ccT	p.P89P	UBE4B_uc001aqs.4_Silent_p.P89P|UBE4B_uc001aqr.4_Silent_p.P89P|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	89					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCAGCTCGCCCTCTAATAGCC	0.468000														101			8		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26743814	26743814	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26743814G>A	uc003acb.3	+	10	2538	c.2342G>A	c.(2341-2343)gGg>gAg	p.G781E	SEZ6L_uc003acd.3_Missense_Mutation_p.G781E|SEZ6L_uc011akd.2_Missense_Mutation_p.G781E|SEZ6L_uc003ace.3_Missense_Mutation_p.G781E|SEZ6L_uc011akc.2_Missense_Mutation_p.G781E|SEZ6L_uc003acc.3_Missense_Mutation_p.G781E|SEZ6L_uc003acf.1_Missense_Mutation_p.G554E|SEZ6L_uc010gvc.1_Missense_Mutation_p.G554E|SEZ6L_uc011ake.2_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	781	Sushi 3.					endoplasmic reticulum membrane|integral to membrane		p.V780M(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GACATCGTGGGGAGTGACACC	0.557000														91			35		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125140818	125140818	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125140818C>T	uc004bmg.1	+	3	453	c.318C>T	c.(316-318)ttC>ttT	p.F106F	PTGS1_uc011lys.1_Silent_p.F81F|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Silent_p.F106F|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	106					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	ATGCCACCTTCATCCGAGAGA	0.602000														54			15		0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141952422	141952422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141952422G>A	uc003vxb.3	-	3	766	c.446C>T	c.(445-447)cCc>cTc	p.P149L	PRSS58_uc003vxc.4_Missense_Mutation_p.P149L	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	149	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CAGTGAATCGGGCTCTTTGTC	0.373000														87			35		0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18149669	18149669	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:18149669G>A	uc001bat.3	+	1	382	c.166G>A	c.(166-168)Gac>Aac	p.D56N		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	56						cytoplasm|cytoskeleton		p.D56Y(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCTGGGCATCGACATTTGCCA	0.572000														106			56		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681119	100681119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100681119C>T	uc003uxp.1	+	2	6475	c.6422C>T	c.(6421-6423)tCa>tTa	p.S2141L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2141	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGTCAGTTCATCTCCTATA	0.502000														368			117		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98058822	98058822	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:98058822G>A	uc001drv.3	-	9	1217	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	360					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGAAGACGATGAACACACGGC	0.458000														132			44		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46246393	46246393	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:46246393C>T	uc001ros.1	+	14	4487	c.4487C>T	c.(4486-4488)tCt>tTt	p.S1496F	ARID2_uc001ror.3_Missense_Mutation_p.S1496F|ARID2_uc009zkg.1_Missense_Mutation_p.S952F|ARID2_uc009zkh.1_Missense_Mutation_p.S1123F|ARID2_uc001rou.1_Missense_Mutation_p.S830F	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1496					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTATCCCATTCTCCTGCCCTA	0.468000			"""N, S, F"""		hepatocellular carcinoma									112			31		0	0	1	0	0
DNAJC3	5611	broad.mit.edu	37	13	96361519	96361519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:96361519C>T	uc001vmq.3	+	1	238	c.121C>T	c.(121-123)Ctt>Ttt	p.L41F	DNAJC3_uc001vmp.3_Missense_Mutation_p.L41F	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 3 (DNAJC3), mRNA.	41					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			TGAGAAACATCTTGAATTGGG	0.353000														78			24		0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177146484	177146484	+	Missense_Mutation	SNP	C	T	T	rs144171323		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:177146484C>T	uc003iuq.2	-	1	319	c.205G>A	c.(205-207)Gca>Aca	p.A69T	ASB5_uc003iup.2_Missense_Mutation_p.A16T	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	69					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GATCGATCTGCCCAGGAACCT	0.343000														78			29		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24454270	24454270	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:24454270C>T	uc003ned.1	-	13	1419	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	GPLD1_uc010jpr.1_Silent_p.E273E|GPLD1_uc010jps.1_Silent_p.E436E	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	436						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TCCTGTGGGCCTCCTTGTCCA	0.567000														85			29		0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49248976	49248976	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49248976C>T	uc002pkj.3	-	1	689	c.141G>A	c.(139-141)gcG>gcA	p.A47A	IZUMO1_uc010eme.3_Non-coding_Transcript|IZUMO1_uc010emf.3_Non-coding_Transcript	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	Homo sapiens izumo sperm-egg fusion 1 (IZUMO1), mRNA.	47					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TGTGATGCTTCGCATCCAGGT	0.532000														106			47		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128797335	128797335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:128797335G>A	uc003kvb.1	+	1	614	c.614G>A	c.(613-615)gGg>gAg	p.G205E	ADAMTS19_uc003kvc.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	205	Pro-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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)		GGCCCCACGGGGGCAGCATCC	0.701000														29			12		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14367010	14367010	+	Silent	SNP	C	T	T	rs141984882		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:14367010C>T	uc003jff.3	+	15	2802	c.2796C>T	c.(2794-2796)gcC>gcT	p.A932A	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Silent_p.A883A|TRIO_uc003jfh.1_Silent_p.A581A	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	932					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGTTAAATGCCGGACTTATCA	0.552000														92			17		0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19580865	19580865	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19580865C>T	uc002dgn.2	+	2	552	c.237C>T	c.(235-237)ctC>ctT	p.L79L	C16orf62_uc002dgo.2_Silent_p.L168L|C16orf62_uc010vas.2_Non-coding_Transcript|C16orf62_uc002dgm.2_Silent_p.L168L	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	79						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CTGACCCCCTCTCCATGTTTG	0.612000														50			7		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181705452	181705452	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181705452G>A	uc009wxt.3	+	21	3499	c.3304G>A	c.(3304-3306)Gca>Aca	p.A1102T	CACNA1E_uc001gow.3_Missense_Mutation_p.A1102T|CACNA1E_uc009wxs.3_Missense_Mutation_p.A1083T|CACNA1E_uc001gox.1_Missense_Mutation_p.A328T	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1102					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						CTTGAAGGAGGCAGAGATCAG	0.498000														13			9		0	0	1	0	0
MARC1	64757	broad.mit.edu	37	1	220970064	220970065	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:220970064_220970065CC>TT	uc001hmt.3	+	2	777_778	c.529_530CC>TT	c.(529-531)ccc>TTc	p.P177F	MARC1_uc001hms.3_Missense_Mutation_p.P177F	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA.	177							molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GAAGTCACAGCCCTACCGCCTG	0.604000														35			12		0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43921516	43921516	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:43921516G>A	uc003tiw.3	-	3	210	c.153C>T	c.(151-153)ttC>ttT	p.F51F	URGCP_uc022acg.1_Silent_p.F42F|URGCP_uc003tiu.3_Silent_p.F8F|URGCP_uc003tiv.3_5'UTR|URGCP_uc003tix.3_Silent_p.F42F|URGCP_uc003tiy.3_Silent_p.F8F|URGCP_uc003tiz.3_Silent_p.F8F|URGCP_uc011kbj.2_Silent_p.F8F	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	51					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ctccataacggaactcgcaat	0.398000														183			83		0	0	1	0	0
ACTR2	10097	broad.mit.edu	37	2	65482733	65482733	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:65482733C>T	uc002sdp.3	+	6	870	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	ACTR2_uc010yqf.1_Missense_Mutation_p.R159C|ACTR2_uc002sdq.3_Missense_Mutation_p.R214C|ACTR2_uc010yqg.2_Missense_Mutation_p.R162C	NM_001005386	NP_001005386	P61160	ARP2_HUMAN	Homo sapiens ARP2 actin-related protein 2 homolog (yeast) (ACTR2), transcript variant 1, mRNA.	214					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	ATP binding|actin binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						TGAAACGGTTCGCATGATTAA	0.373000														102			46		0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133789762	133789762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:133789762C>T	uc011ecs.2	+	10	1179	c.863C>T	c.(862-864)tCa>tTa	p.S288L	EYA4_uc011ecq.2_Missense_Mutation_p.S234L|EYA4_uc011ecr.2_Missense_Mutation_p.S234L|EYA4_uc003qec.4_Missense_Mutation_p.S288L|EYA4_uc003qed.4_Missense_Mutation_p.S288L|EYA4_uc003qee.4_Missense_Mutation_p.S265L|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	288					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TATTCAGCATCAACGTATGGA	0.413000														68			47		0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60463381	60463381	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:60463381C>T	uc001czs.2	-	10	1488	c.1380G>A	c.(1378-1380)gtG>gtA	p.V460V	C1orf87_uc001czr.1_Silent_p.V52V	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	460							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CAGCTGGATTCACGAAGGGCT	0.502000														53			22		0	0	1	0	0
WBSCR27	155368	broad.mit.edu	37	7	73254755	73254755	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:73254755G>A	uc003tzj.2	-	3	417	c.377C>T	c.(376-378)cCc>cTc	p.P126L	WBSCR27_uc011kfd.1_Intron	NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN	Homo sapiens Williams Beuren syndrome chromosome region 27 (WBSCR27), mRNA.	126										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				TTCCGGGCTGGGCAGAGGCTC	0.652000														10			8		0	0	1	0	0
GAST	2520	broad.mit.edu	37	17	39872043	39872043	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39872043G>A	uc002hxl.3	+	2	292	c.225G>A	c.(223-225)aaG>aaA	p.K75K	JUP_uc010wfs.2_Intron	NM_000805	NP_000796	P01350	GAST_HUMAN	Homo sapiens gastrin (GAST), mRNA.	75		Cleavage.				extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CGTCCAAGAAGCAGGGACCAT	0.557000														50			38		0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46937265	46937265	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:46937265C>T	uc010acl.3	-	5	1515	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	KIAA0226L_uc001vbf.4_Missense_Mutation_p.E237K|KIAA0226L_uc010tfz.2_Missense_Mutation_p.E147K|KIAA0226L_uc010acn.3_Missense_Mutation_p.E89K|KIAA0226L_uc010acm.3_Missense_Mutation_p.E169K|KIAA0226L_uc001vbe.4_Missense_Mutation_p.E304K|KIAA0226L_uc001vbh.4_Missense_Mutation_p.E304K|KIAA0226L_uc001vbi.4_Missense_Mutation_p.E147K|KIAA0226L_uc010aco.1_Missense_Mutation_p.E304K	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	304										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ATAACAAATTCATCAACATCG	0.423000														38			9		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54780682	54780682	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54780682G>A	uc002qfb.3	-	9	1728	c.1462C>T	c.(1462-1464)Cag>Tag	p.Q488*	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Nonsense_Mutation_p.Q488*|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Nonsense_Mutation_p.Q487*|LILRB2_uc010yet.2_Nonsense_Mutation_p.Q372*	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	488					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.R487R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTTTGCCCTGACGTCGATGT	0.607000														175			33		0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89827573	89827573	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:89827573C>T	uc003hse.1	-	5	1008	c.800G>A	c.(799-801)aGa>aAa	p.R267K	FAM13A_uc003hsf.1_Missense_Mutation_p.R58K|FAM13A_uc003hsh.1_Missense_Mutation_p.R81K	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	267					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTCTAAGCCTCTTGTTAAAAG	0.368000														417			167		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209807842	209807842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:209807842G>A	uc001hhg.3	-	4	904	c.514C>T	c.(514-516)Cgg>Tgg	p.R172W	LAMB3_uc009xco.3_Missense_Mutation_p.R172W|LAMB3_uc001hhh.3_Missense_Mutation_p.R172W|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Intron	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	172	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GACTGGCACCGAACATCCTGC	0.602000														83			34		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222037	140222037	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140222037C>T	uc003lhs.2	+	0	1131	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L	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_uc003lhr.1_Silent_p.L377L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	392	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)			TGAACGACCTCGATTCAGGTG	0.517000														112			53		0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75563921	75563921	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75563921G>A	uc001xrl.3	-	16	2209	c.2055C>T	c.(2053-2055)acC>acT	p.T685T	NEK9_uc001xrk.3_Silent_p.T185T	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	685					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TCTCTGTGGGGGTCATTGCCA	0.498000														39			23		0	0	1	0	0
PRKCI	5584	broad.mit.edu	37	3	170020883	170020883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:170020883C>T	uc003fgs.2	+	17	1997	c.1759C>T	c.(1759-1761)Cct>Tct	p.P587S	PRKCI_uc003fgt.2_Missense_Mutation_p.P142S	NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	587	AGC-kinase C-terminal.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GTATATCAATCCTCTTTTGAT	0.333000														81			33		0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57860961	57860961	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:57860961C>T	uc003hcl.1	+	4	548	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	POLR2B_uc011cae.1_Missense_Mutation_p.R162C|POLR2B_uc011caf.1_Missense_Mutation_p.R94C	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	169					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CTTGACAGATCGTGATCTTTG	0.338000														78			41		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187542889	187542889	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187542889G>A	uc003izf.3	-	9	5039	c.4851C>T	c.(4849-4851)ggC>ggT	p.G1617G		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1617	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTTTAATAGAGCCCAAGACAG	0.368000										HNSCC(5;0.00058)				16			6		0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36124361	36124361	+	Missense_Mutation	SNP	G	A	A	rs139182630		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:36124361G>A	uc003jkb.1	-	6	1169	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	252						integral to membrane		p.R252C(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCACTTTACGAACCTCCTAT	0.279000														43			15		0	0	1	0	0
DMC1	11144	broad.mit.edu	37	22	38962607	38962607	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38962607C>T	uc003avz.1	-	3	406	c.231G>A	c.(229-231)gcG>gcA	p.A77A	DMC1_uc011anv.1_Silent_p.A77A|DMC1_uc003awa.1_Silent_p.A77A	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	77					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TTAGTTTGTTCGCTGCCTCTT	0.378000								Homologous recombination						51			17		0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43678790	43678790	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:43678790C>T	uc001jan.3	+	7	1764	c.1429C>T	c.(1429-1431)Ccg>Tcg	p.P477S		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	477					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GATTCGGACTCCGGTTCCTGG	0.478000														165			78		0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176820706	176820706	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176820706C>T	uc003mgk.4	+	8	1052	c.948C>T	c.(946-948)tcC>tcT	p.S316S		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	316					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCCACCTCCATGTCCAGAG	0.552000														86			22		0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39522755	39522755	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39522755C>T	uc002hwl.3	-	2	600	c.555G>A	c.(553-555)gaG>gaA	p.E185E		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	185	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				ACAGCAGCTCCTCCTTCAGGG	0.567000														76			6		0	0	1	0	0
RNASE1	6035	broad.mit.edu	37	14	21269835	21269835	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21269835C>T	uc021rop.1	-	0	393	c.393G>A	c.(391-393)gaG>gaA	p.E131E	RNASE1_uc001vyf.3_Silent_p.E131E|RNASE1_uc001vyg.3_Silent_p.E131E|RNASE1_uc001vyh.3_Silent_p.E131E|RNASE1_uc001vyi.3_Silent_p.E131E	NM_198235	NP_937878	P07998	RNAS1_HUMAN	Homo sapiens ribonuclease, RNase A family, 1 (pancreatic) (RNASE1), transcript variant 1, mRNA.	131						extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		TGATGTGTCTCTCCTTCGGGC	0.557000														99			49		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956173	18956173	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:18956173G>A	uc001mpg.3	-	0	377	c.159C>T	c.(157-159)ggC>ggT	p.G53G		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	53					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCATGCGGCAGCCCAGGAGCC	0.562000														140			61		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71444949	71444949	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:71444949C>T	uc001xmo.2	+	5	2341	c.1895C>T	c.(1894-1896)tCc>tTc	p.S632F	PCNX_uc001xmn.4_Missense_Mutation_p.S632F|PCNX_uc010are.1_Missense_Mutation_p.S632F	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	632	Ser-rich.					integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ACTTCTCATTCCTGTCAGTCT	0.463000														88			19		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117232173	117232173	+	Missense_Mutation	SNP	C	T	T	rs143723757		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:117232173C>T	uc003pxm.3	+	6	811	c.748C>T	c.(748-750)Ctt>Ttt	p.L250F		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	250					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CGCTCAACACCTTGTATACCA	0.373000														82			28		0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43893672	43893672	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43893672C>T	uc001zsf.3	-	23	4701	c.4623G>A	c.(4621-4623)cgG>cgA	p.R1541R	STRC_uc010bdl.3_Silent_p.R768R|STRC_uc001zse.3_Silent_p.R59R	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1541					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CCTGTAGTTCCCGATCTCCTA	0.552000														83			37		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28654727	28654727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28654727G>A	uc002kwl.4	-	11	2264	c.1810C>T	c.(1810-1812)Cat>Tat	p.H604Y	DSC2_uc002kwk.4_Missense_Mutation_p.H604Y	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	604	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GGTGGGCCATGGATAGGCTCA	0.413000														37			17		0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649612	75649612	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:75649612C>T	uc004ecm.2	+	0	1567	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	430						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TCCAAGTGTTCCCTTGTTTTG	0.572000														20			10		0	0	1	0	0
METTL24	728464	broad.mit.edu	37	6	110620340	110620340	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:110620340C>T	uc010kdu.1	-	3	571	c.571G>A	c.(571-573)Gat>Aat	p.D191N	METTL24_uc003pub.2_5'UTR	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN	Homo sapiens chromosome 6 open reading frame 186 (C6orf186), mRNA.	191						extracellular region											AAATGGGTATCATCACTTCCT	0.433000														40			32		0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079149	57079149	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:57079149G>A	uc003xsq.4	-	2	1607	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	PLAG1_uc003xsr.4_Missense_Mutation_p.P386S|PLAG1_uc010lyi.3_Missense_Mutation_p.P386S|PLAG1_uc010lyj.3_Missense_Mutation_p.P304S|PLAG1_uc022aur.1_Missense_Mutation_p.P304S	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	386	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P386H(1)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CCAATCTGAGGATCCAACCCT	0.483000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									110			36		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124989840	124989840	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:124989840G>A	uc003yqw.3	+	9	1260	c.1054G>A	c.(1054-1056)Gga>Aga	p.G352R		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	352						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CGAACAGGATGGAGACAAAGG	0.473000														25			12		0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687851	68687851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:68687851C>T	uc001jmz.1	+	1	1727	c.1177C>T	c.(1177-1179)Ccc>Tcc	p.P393S	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Missense_Mutation_p.P393S	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	393						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGAGAGCAAACCCCCTTTGCC	0.597000														74			23		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7629892	7629892	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:7629892C>T	uc002cys.2	+	5	1372	c.384C>T	c.(382-384)ttC>ttT	p.F128F	RBFOX1_uc010buf.1_Silent_p.F128F|RBFOX1_uc002cyr.1_Silent_p.F127F|RBFOX1_uc002cyt.2_Silent_p.F128F|RBFOX1_uc010uxz.1_Silent_p.F171F|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Silent_p.F128F|RBFOX1_uc010uyb.1_Silent_p.F128F|RBFOX1_uc002cyw.2_Silent_p.F148F|RBFOX1_uc002cyy.2_Silent_p.F148F|RBFOX1_uc002cyx.2_Silent_p.F148F|RBFOX1_uc010uyc.1_Silent_p.F148F	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	128	RRM.				RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCTTCAGGTTCCGGGATCCGG	0.547000														51			22		0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450377	158450377	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158450377C>T	uc010pik.2	+	0	710	c.710C>T	c.(709-711)tCt>tTt	p.S237F	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ATCTGTGTTTCTTATCTCTGC	0.433000														112			29		0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46593050	46593050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46593050G>A	uc010hji.3	-	1	425	c.32C>T	c.(31-33)tCt>tTt	p.S11F	LRRC2_uc003cpu.4_Missense_Mutation_p.S11F	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	Homo sapiens leucine rich repeat containing 2 (LRRC2), mRNA.	11										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TCTGATGACAGAAATGTCGAA	0.413000														90			42		0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2931166	2931166	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:2931166C>T	uc011mhj.2	+	2	293	c.293C>T	c.(292-294)aCt>aTt	p.T98I		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	98						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AATGAAACGACTTTTGCCAAG	0.552000														28			46		0	0	1	0	0
LOC440518	440518	broad.mit.edu	37	19	22785278	22785278	+	RNA	SNP	G	A	A	rs141007327	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22785278G>A	uc002nqu.4	+	6		c.1454G>A								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		TGTGTGGGGGGACCCACCGGG	0.662000														15			7		0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70644918	70644918	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:70644918C>T	uc001jos.2	+	2	1453	c.1366C>T	c.(1366-1368)Cct>Tct	p.P456S	STOX1_uc001joq.3_Missense_Mutation_p.P346S|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Missense_Mutation_p.P346S	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	456						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CCCCAAGCTCCCTGCTACACA	0.478000														96			50		0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160915040	160915041	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160915040_160915041GG>AA	uc001fxd.3	-	7	925_926	c.867_868CC>TT	c.(865-870)ccccgt>ccTTgt	p.R290C	ITLN2_uc009wts.3_Missense_Mutation_p.R289C|ITLN2_uc010pju.2_Missense_Mutation_p.R207C	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	290					signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCACACTGACGGGGTTTGCCCT	0.530000														39			22		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004186	75004186	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:75004186C>T	uc004ecj.2	-	0	894	c.701G>A	c.(700-702)cGa>cAa	p.R234Q		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	234	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCAAGAATCGCATGCACAC	0.488000														26			25		0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048030	6048030	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6048030C>T	uc010qzw.2	-	0	942	c.905G>A	c.(904-906)cGg>cAg	p.R302Q		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTTTGGTCCGAACCCCATA	0.448000														82			8		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100200274	100200274	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:100200274G>A	uc001tge.2	-	3	994	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.R193C	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	193						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GTGTGCTTGCGAGTGTTGCAG	0.527000														59			16		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242003063	242003063	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242003063G>A	uc002wah.1	+	17	2431	c.2431G>A	c.(2431-2433)Ggg>Agg	p.G811R	SNED1_uc002wai.1_Missense_Mutation_p.G46R|SNED1_uc002waj.1_5'Flank|SNED1_uc002wak.3_5'Flank	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	811	EGF-like 12; calcium-binding (Potential).				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GAACCTCCCAGGGGCCTATGT	0.627000														14			3		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	425526	425526	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:425526G>A	uc003bot.3	+	18	2846	c.2204G>A	c.(2203-2205)aGg>aAg	p.R735K	CHL1_uc003bou.3_Missense_Mutation_p.R719K|CHL1_uc003bow.2_Missense_Mutation_p.R719K|CHL1_uc011asi.2_Missense_Mutation_p.R735K|BC065754_uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	719	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.R735S(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAAAACATAAGGGTTCAAGCC	0.353000														72			28		0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156496304	156496304	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156496304G>A	uc001fpf.3	-	37	4945	c.4870C>T	c.(4870-4872)Ctc>Ttc	p.L1624F		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1624					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCTTGTTGAGGAGGAAGATG	0.488000														52			13		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864654	131864654	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:131864654G>A	uc003vra.4	-	19	3895	c.3666C>T	c.(3664-3666)tcC>tcT	p.S1222S		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1222	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCATCCCCGGGGAGTACTCCA	0.647000														26			8		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31743967	31743967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31743967G>A	uc011dog.2	-	2	525	c.287C>T	c.(286-288)tCt>tTt	p.S96F	VWA7_uc003nxd.2_5'UTR|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	96						extracellular region											CCGCCGAGAAGAACCAGGTCC	0.592000														91			34		0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29640975	29640975	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29640975G>A	uc011dlw.2	-	3	1064	c.913C>T	c.(913-915)Cag>Tag	p.Q305*		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	221					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						ATGGGTGTCTGGAATTCAGCC	0.542000														132			53		0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90895665	90895665	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:90895665C>T	uc003ula.3	+	0	1883	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	490					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding	p.F490F(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGCGTGGCTTCGTGCTGGCGC	0.612000														188			75		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147236	26147236	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:26147236T>A	uc002dof.3	+	1	1430	c.1038T>A	c.(1036-1038)taT>taA	p.Y346*		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	346					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GGCTCCAGTATTTCCCCCTCT	0.542000														128			61		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230272018	230272018	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:230272018G>A	uc002vpv.3	-	9	1800	c.1653C>T	c.(1651-1653)agC>agT	p.S551S		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	551	EGF-like 9.|Follistatin-like.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CGTTCAGACAGCTGACGTTAG	0.532000														104			43		0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795252	142795252	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:142795252G>A	uc004fbz.3	-	1	1180	c.426C>T	c.(424-426)gaC>gaT	p.D142D		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	142										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCAGATGAGTCCAGGTCTT	0.522000														215			36		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158589991	158589991	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158589991C>T	uc001fst.1	-	43	6585	c.6386G>A	c.(6385-6387)aGg>aAg	p.R2129K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2129					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTCCAGGTCCTTTCCAGCAC	0.448000														103			20		0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080723	5080723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5080723G>A	uc010qyw.2	-	0	135	c.135C>T	c.(133-135)ttC>ttT	p.F45F		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GTAGAATAGTGAAGTTCCCTA	0.507000														57			11		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907641	12907641	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12907641C>T	uc010obf.2	-	1	728	c.502G>A	c.(502-504)Gga>Aga	p.G168R	LOC649330_uc009vno.2_Missense_Mutation_p.G168R	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	168							nucleic acid binding|nucleotide binding										TTGGAAGATCCCCGCTTTCCA	0.478000														508			102		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152383212	152383212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152383212C>T	uc001ezx.2	-	2	420	c.346G>A	c.(346-348)Gga>Aga	p.G116R		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	116					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTCTGTCCTTCGCCCAGC	0.617000														301			159		0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26789453	26789453	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:26789453G>A	uc001uqo.3	-	4	911	c.566C>T	c.(565-567)tCa>tTa	p.S189L	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Missense_Mutation_p.S189L|RNF6_uc001uqq.3_Missense_Mutation_p.S189L|RNF6_uc010tdk.2_Intron	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	189					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		AGGACTAGTTGACCTTTGTTG	0.403000														275			18		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187509969	187509969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187509969G>A	uc003izf.3	-	26	13732	c.13544C>T	c.(13543-13545)cCc>cTc	p.P4515L	FAT1_uc010isn.3_Missense_Mutation_p.P162L	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	4515					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGGGGCATGGGGTTCTCTACA	0.517000										HNSCC(5;0.00058)				57			20		0	0	1	0	0
GPR183	1880	broad.mit.edu	37	13	99947438	99947438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:99947438C>T	uc001vog.3	-	1	1136	c.962G>A	c.(961-963)aGg>aAg	p.R321K	UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR183_uc021rma.1_Missense_Mutation_p.R321K	NM_004951	NP_004942	P32249	GP183_HUMAN	Homo sapiens G protein-coupled receptor 183 (GPR183), mRNA.	321					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TTTCAGCATCCTCATAACCTT	0.403000														94			15		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143793092	143793092	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143793092G>A	uc011kty.2	+	0	892	c.892G>A	c.(892-894)Ggg>Agg	p.G298R		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AGAGGTGAAAGGGGCTCTAAA	0.463000														200			97		0	0	1	0	0
NCAPH2	29781	broad.mit.edu	37	22	50956060	50956060	+	Silent	SNP	C	T	T	rs150150677		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50956060C>T	uc003blx.4	+	3	443	c.321C>T	c.(319-321)agC>agT	p.S107S	NCAPH2_uc003blq.4_Silent_p.S107S|NCAPH2_uc003blv.3_Silent_p.S107S|NCAPH2_uc003blr.4_Silent_p.S107S	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	107					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGGTTGCCAGCTCCGGGGTCC	0.652000														74			26		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179504001	179504001	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179504001G>A	uc001gmo.3	+	24	3322	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K	AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.E863K|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	979	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						agaagagaaagaaaatcaaga	0.323000														71			8		0	0	1	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103599776	103599776	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:103599776G>A	uc001ymm.1	+	8	1754	c.1623G>A	c.(1621-1623)aaG>aaA	p.K541K	TNFAIP2_uc010awo.1_Intron|TNFAIP2_uc010txz.1_Silent_p.K210K|TNFAIP2_uc010tya.1_Silent_p.K24K	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	541					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			TGGTCCTCAAGACGGCCGAGC	0.632000														70			24		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120730	94120730	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:94120730C>T	uc003poe.3	-	2	562	c.321G>A	c.(319-321)agG>agA	p.R107R	EPHA7_uc003pof.3_Silent_p.R107R|EPHA7_uc011eac.2_Silent_p.R107R|EPHA7_uc003pog.4_Silent_p.R107R	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	107						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGTTACAATCCCTCAGGGTGA	0.408000														58			32		0	0	1	0	0
FPGS	2356	broad.mit.edu	37	9	130569509	130569509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130569509C>T	uc004bsg.1	+	5	573	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S	FPGS_uc004bsh.1_5'UTR|FPGS_uc011mal.1_Intron|FPGS_uc004bsi.1_Missense_Mutation_p.P125S	NM_004957	NP_004948	Q05932	FOLC_HUMAN	Homo sapiens folylpolyglutamate synthase (FPGS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	175					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	TGTCTCCATGCCCCCCTACTT	0.602000														109			41		0	0	1	0	0
AKR1E2	83592	broad.mit.edu	37	10	4879714	4879714	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:4879714G>A	uc001ihi.3	+	4	638	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	AKR1E2_uc010qam.1_Missense_Mutation_p.E136K|AKR1E2_uc001ihh.1_Missense_Mutation_p.E175K|AKR1E2_uc001ihj.3_Non-coding_Transcript|AKR1E2_uc001ihk.3_Missense_Mutation_p.E175K|AKR1E2_uc009xhw.3_Intron	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	Homo sapiens aldo-keto reductase family 1, member E2 (AKR1E2), mRNA.	175						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CTTCAACCATGAACAGCTTGA	0.507000														46			19		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931073	157931073	+	Nonsense_Mutation	SNP	G	A	A	rs142009346	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:157931073G>A	uc003wno.3	-	6	1166	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	PTPRN2_uc003wnp.3_Nonsense_Mutation_p.R332*|PTPRN2_uc003wnq.3_Nonsense_Mutation_p.R349*|PTPRN2_uc003wnr.3_Nonsense_Mutation_p.R311*|PTPRN2_uc011kwa.2_Nonsense_Mutation_p.R372*	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	349						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGGCTGCCTCGAGCTACTCCA	0.672000														80			33		0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	625222	625222	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:625222G>A	uc002lpf.1	-	3	911	c.855C>T	c.(853-855)ttC>ttT	p.F285F		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	285					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCTTCACCATGAATAACACAT	0.622000														77			27		0	0	1	0	0
IMPAD1	54928	broad.mit.edu	37	8	57890620	57890620	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:57890620G>A	uc003xte.4	-	2	921	c.635C>T	c.(634-636)tCc>tTc	p.S212F		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	Homo sapiens inositol monophosphatase domain containing 1 (IMPAD1), mRNA.	212						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				TGTATATTCGGAAAATGGCTT	0.338000														131			46		0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18648044	18648044	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:18648044G>A	uc002gul.3	+	0	719	c.487G>A	c.(487-489)Gag>Aag	p.E163K	FBXW10_uc002guj.3_Missense_Mutation_p.E163K|FBXW10_uc002guk.3_Missense_Mutation_p.E163K|FBXW10_uc010cqh.2_Missense_Mutation_p.E163K	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	163										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GTTTCTGAGAGAGGAGAACAA	0.493000														34			12		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41711165	41711165	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41711165C>T	uc002yyq.1	-	6	1840	c.1388G>A	c.(1387-1389)gGg>gAg	p.G463E	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	463	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GACCACGTTCCCCTCCGACGT	0.612000														54			27		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56436006	56436006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56436006C>T	uc010ygg.2	-	2	432	c.407G>A	c.(406-408)gGa>gAa	p.G136E		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	136							ATP binding	p.Q135_G136>H*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATCTTGGCATCCCTGGGTCTG	0.433000														90			32		0	0	1	0	0
CLCF1	23529	broad.mit.edu	37	11	67133074	67133074	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67133074C>T	uc001okq.3	-	2	407	c.211G>A	c.(211-213)Gag>Aag	p.E71K	LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.2_Missense_Mutation_p.E61K	NM_013246	NP_001159684	Q9UBD9	CLCF1_HUMAN	Homo sapiens cardiotrophin-like cytokine factor 1 (CLCF1), transcript variant 1, mRNA.	71					B cell differentiation|JAK-STAT cascade|cytokine-mediated signaling pathway|negative regulation of neuron apoptosis|positive regulation of B cell proliferation|positive regulation of astrocyte differentiation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			AAGTCTGGCTCGTTGAAAGGG	0.612000														82			31		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7527128	7527128	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7527128C>T	uc010sge.2	-	12	3375	c.3349G>A	c.(3349-3351)Gga>Aga	p.G1117R	CD163L1_uc001qsy.3_Missense_Mutation_p.G1107R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1107	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GACTCCATTCCTGTGCAGTTC	0.622000														71			34		0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231035380	231035380	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:231035380C>T	uc002vqg.3	-	17	2225	c.1985G>A	c.(1984-1986)cGa>cAa	p.R662Q	SP110_uc002vqh.3_Missense_Mutation_p.R638Q	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	638	Bromo.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		GCGCATGTCTCGCACAAACCA	0.443000														62			43		0	0	1	0	0
IL29	282618	broad.mit.edu	37	19	39787205	39787205	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39787205G>A	uc002okv.3	+	0	241	c.144G>A	c.(142-144)gcG>gcA	p.A48A		NM_172140	NP_742152	Q8IU54	IL29_HUMAN	Homo sapiens interleukin 29 (interferon, lambda 1) (IL29), mRNA.	48					defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of MHC class I biosynthetic process|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein	extracellular space|interleukin-28 receptor complex	cytokine activity|interleukin-28 receptor binding			endometrium(2)|lung(2)	4	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGGAGCTAGCGAGCTTCAAGA	0.582000														27			11		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226026	158226026	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158226026C>T	uc001frt.3	+	2	1091	c.558C>T	c.(556-558)ttC>ttT	p.F186F	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	186	Ig-like.				antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GCCCACGTTTCATCTTGGGTC	0.463000														86			24		0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43259928	43259928	+	Silent	SNP	G	A	A	rs140077118		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43259928G>A	uc002yzq.1	-	13	1884	c.1773C>T	c.(1771-1773)agC>agT	p.S591S	PRDM15_uc002yzo.3_Silent_p.S262S|PRDM15_uc002yzp.3_Silent_p.S262S|PRDM15_uc002yzr.1_Silent_p.S262S	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTGGAGGAAGGCTTTTGGCTT	0.602000														134			42		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370529	86370529	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:86370529C>T	uc001vll.1	-	1	574	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	SLITRK6_uc021rla.1_Missense_Mutation_p.E39K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	39	LRRNT 1.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CCATCTTTTTCCTCACAATTG	0.393000														130			31		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983578	97983578	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:97983578C>T	uc003dsi.1	+	0	450	c.450C>T	c.(448-450)gtC>gtT	p.V150V		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTTATCCAGTCATTATGACCA	0.363000														61			93		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26572089	26572089	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:26572089G>A	uc001rhg.3	-	49	7420	c.7003C>T	c.(7003-7005)Cgt>Tgt	p.R2335C	ITPR2_uc009zjg.1_Missense_Mutation_p.R486C	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2335					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.T2334P(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CGGTACCCACGGGTGAACGTG	0.433000														56			33		0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73749129	73749129	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73749129C>T	uc004ebt.2	+	4	1640	c.1474C>T	c.(1474-1476)Ctt>Ttt	p.L492F	SLC16A2_uc010nlr.1_Intron	NM_006517	NP_006508	P36021	MOT8_HUMAN	Homo sapiens solute carrier family 16, member 2 (monocarboxylic acid transporter 8) (SLC16A2), mRNA.	418						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	CGTCGTCTGTCTTTTCCTGGG	0.577000														11			15		0	0	1	0	0
NPTN	27020	broad.mit.edu	37	15	73862580	73862580	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:73862580G>A	uc002avs.3	-	5	1222	c.1025C>T	c.(1024-1026)cCt>cTt	p.P342L	NPTN_uc010bjc.3_Missense_Mutation_p.P342L|NPTN_uc002avt.3_Missense_Mutation_p.P226L|NPTN_uc002avr.3_Missense_Mutation_p.P226L|NPTN_uc010ula.2_Missense_Mutation_p.P137L	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	Homo sapiens neuroplastin (NPTN), transcript variant b, mRNA.	342					elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						TCCCAAGAAAGGCCAGAGTGG	0.527000														129			17		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62871152	62871152	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62871152G>A	uc002yii.3	+	21	3497	c.3133G>A	c.(3133-3135)Gag>Aag	p.E1045K	MYT1_uc002yij.3_Missense_Mutation_p.E704K	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	1045					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CATCGAGGAGGAGAACAAGCT	0.577000														76			28		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66883549	66883549	+	Silent	SNP	G	A	A	rs142750568		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:66883549G>A	uc002jhq.3	-	24	3583	c.3243C>T	c.(3241-3243)ttC>ttT	p.F1081F	ABCA8_uc002jhp.3_Silent_p.F1041F|ABCA8_uc010wqq.2_Silent_p.F1081F|ABCA8_uc010wqr.2_Silent_p.F1020F	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1041						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATATAAAAACGAAGACCAAGA	0.413000														210			53		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51975425	51975425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51975425C>T	uc002abh.3	+	3	594	c.191C>T	c.(190-192)cCa>cTa	p.P64L	SCG3_uc010ufz.2_5'UTR	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	64					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GAAAACAAGCCAGGTCAGAGC	0.338000														216			91		0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24811299	24811299	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24811299C>T	uc003xee.3	-	2	1282	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	394	Coil 2B.|Rod.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCCTCGCCTTCCAAGAGTTTC	0.532000														17			7		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70933619	70933619	+	Missense_Mutation	SNP	C	T	T	rs150844276	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70933619C>T	uc001swb.4	-	22	5060	c.5030G>A	c.(5029-5031)cGg>cAg	p.R1677Q	PTPRB_uc010sto.2_Missense_Mutation_p.R1587Q|PTPRB_uc010stp.2_Missense_Mutation_p.R1587Q|PTPRB_uc001swc.4_Missense_Mutation_p.R1895Q|PTPRB_uc001swa.4_Missense_Mutation_p.R1807Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1677					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1677W(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGAAGTTTTCCGGTTACTGTG	0.353000														85			22		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2375858	2375859	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:2375858_2375859CC>TT	uc002wfy.1	+	2	261_262	c.200_201CC>TT	c.(199-201)gcc>gTT	p.A67V	TGM6_uc010gal.1_Missense_Mutation_p.A67V	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	67					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCTTCTGAGGCCCTCCACACCA	0.584000														27			9		0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69093153	69093153	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:69093153C>T	uc002sez.1	-	1	1044	c.885G>A	c.(883-885)ggG>ggA	p.G295G		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	295					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						AAGCCTCTTCCCCAGGTCCAC	0.493000														65			18		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54803167	54803167	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54803167G>A	uc002qfd.3	-	3	602	c.510C>T	c.(508-510)tcC>tcT	p.S170S	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	169	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CATGGGAATGGGAGTTCAGGC	0.567000														105			55		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130845791	130845791	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:130845791G>A	uc001uik.3	+	14	2003	c.1732G>A	c.(1732-1734)Gat>Aat	p.D578N	PIWIL1_uc001uij.2_Missense_Mutation_p.D578N	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	578	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding	p.D578E(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CCTGTGTACAGATTGCCCTAC	0.433000														31			21		0	0	1	0	0
C17orf101	79701	broad.mit.edu	37	17	80361910	80361910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:80361910G>A	uc002ket.2	-	6	754	c.602C>T	c.(601-603)tCc>tTc	p.S201F	C17orf101_uc010dip.2_Non-coding_Transcript|C17orf101_uc002keu.2_Missense_Mutation_p.S201F	NM_175902	NP_787098	Q6PK18	CQ101_HUMAN	Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA.	201						integral to membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						ATGCAGCGAGGATGCGCTGAT	0.627000														8			4		0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090588	238090588	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:238090588G>A	uc010pyc.2	+	11		c.2094G>A								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		GCATTGTCAGGGACTCTGGAG	0.612000														30			9		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103427784	103427784	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:103427784C>T	uc001dum.3	-	39	3416	c.3098G>A	c.(3097-3099)gGa>gAa	p.G1033E	COL11A1_uc001duk.3_Missense_Mutation_p.G217E|COL11A1_uc001dul.3_Missense_Mutation_p.G1021E|COL11A1_uc001dun.3_Missense_Mutation_p.G982E|COL11A1_uc009weh.3_Missense_Mutation_p.G905E	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1021	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)		TCCTGCTGGTCCATCTTTCCC	0.378000														103			18		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110439352	110439352	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110439352G>A	uc003yne.3	+	24	3071	c.2967G>A	c.(2965-2967)tgG>tgA	p.W989*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	989					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			ACATCAAATGGAGAAGCACCT	0.488000										HNSCC(38;0.096)				32			15		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4832579	4832579	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:4832579G>A	uc001alm.1	+	3	1538	c.1157G>A	c.(1156-1158)gGa>gAa	p.G386E	AJAP1_uc001aln.3_Missense_Mutation_p.G386E	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	386	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACATTTAATGGAAACCGGTAA	0.602000														25			13		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88476368	88476368	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:88476368C>T	uc002bme.2	-	15	2070	c.1764G>A	c.(1762-1764)gaG>gaA	p.E588E	NTRK3_uc002bmh.2_Silent_p.E580E|NTRK3_uc002bmf.2_Silent_p.E588E|NTRK3_uc021sua.1_Silent_p.E580E|NTRK3_uc010upl.1_Silent_p.E490E|NTRK3_uc010bnh.1_Silent_p.E580E	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	588	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCAGCTCGGCCTCCCTCTGGA	0.562000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				84			11		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55569084	55569084	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:55569084C>T	uc021pqw.1	-	35	5130	c.4735G>A	c.(4735-4737)Gaa>Aaa	p.E1579K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Missense_Mutation_p.E1574K|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					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)				TTATCTTCTTCCTCAAGGCGT	0.418000										HNSCC(58;0.16)				43			24		0	0	1	0	0
GGTLC2	91227	broad.mit.edu	37	22	22989341	22989341	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22989341C>T	uc010gts.2	+	1	328	c.294C>T	c.(292-294)ttC>ttT	p.F98F	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gtt.2_Silent_p.F98F	NM_199127	NP_954578	Q14390	GGTL2_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 2 (GGTLC2), transcript variant 1, mRNA.	98					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		CTGCCAATTTCATCCAGCCAG	0.612000														168			72		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54219328	54219328	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:54219328G>A	uc003pcj.2	+	8	1290	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	382					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCAAGTCCGTGAAGATTTCTT	0.338000														93			32		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561151	9561151	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9561151C>T	uc002wnl.2	-	4	1176	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	PAK7_uc002wnk.2_Missense_Mutation_p.E211K|PAK7_uc002wnj.2_Missense_Mutation_p.E211K|PAK7_uc010gby.1_Missense_Mutation_p.E211K	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	211	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCACTGTATTCACTTGGTTTG	0.483000														75			39		0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67051805	67051805	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67051805C>T	uc009yrn.1	+	17	1881	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	539					activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCTGGAGGCTCGCAAGAAAGC	0.627000														46			7		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89939785	89939785	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89939785G>A	uc003kju.3	+	13	2815	c.2719G>A	c.(2719-2721)Gat>Aat	p.D907N	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	907					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGCAAAGGAGATGCTATCTA	0.274000														19			5		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20442548	20442548	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20442548G>A	uc002dhe.3	+	9	1360	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	405					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCAGATTGTGGATGATGAGGG	0.552000														102			11		0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64738836	64738836	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:64738836G>A	uc002jfo.1	+	13	1587	c.1095G>A	c.(1093-1095)acG>acA	p.T365T	PRKCA_uc002jfp.1_Silent_p.T494T			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	494	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ATGGAGTCACGACCAGGACCT	0.483000														79			36		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124393367	124393367	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124393367G>A	uc003ehg.3	+	48	7226	c.7099G>A	c.(7099-7101)Gac>Aac	p.D2367N	KALRN_uc003ehi.3_Missense_Mutation_p.D707N|KALRN_uc003ehk.3_Missense_Mutation_p.D670N|KALRN_uc011bjz.2_Missense_Mutation_p.D458N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2366	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCCTGCCAGCGACCATTCCCC	0.597000														18			9		0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628817	71628817	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:71628817C>T	uc004agy.3	-	0	223	c.192G>A	c.(190-192)caG>caA	p.Q64Q		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	64	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CGCCGGTCTCCTGGTGCCTCA	0.607000														78			10		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13366056	13366056	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:13366056G>A	uc002mwy.3	-	28	4844	c.4608C>T	c.(4606-4608)ttC>ttT	p.F1536F	CACNA1A_uc002mwx.3_Silent_p.F242F|CACNA1A_uc010dzc.2_Silent_p.F1062F|CACNA1A_uc010xnd.2_Silent_p.F1539F|CACNA1A_uc021ups.1_Silent_p.F1536F|CACNA1A_uc010xne.2_Silent_p.F1539F|CACNA1A_uc010dze.2_Silent_p.F1536F|CACNA1A_uc021upt.1_Silent_p.F1537F|CACNA1A_uc002mwv.3_Silent_p.F53F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1537					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGCTGATGGCGAAATCAATGC	0.612000														16			4		0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115760190	115760190	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:115760190C>T	uc011lwy.2	-	4	1589	c.350G>A	c.(349-351)aGa>aAa	p.R117K		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AGTATGGATTCTCTCATGATT	0.383000														28			17		0	0	1	0	0
GNG4	2786	broad.mit.edu	37	1	235715446	235715446	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:235715446G>A	uc001hxe.4	-	3	645	c.191C>T	c.(190-192)cCc>cTc	p.P64L	GNG4_uc009xfz.3_Missense_Mutation_p.P64L|GNG4_uc001hxh.4_Missense_Mutation_p.P64L	NM_001098722	NP_004476	P50150	GBG4_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 4 (GNG4), transcript variant 1, mRNA.	64					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			CTCGCGAAAGGGGTTTTCTGA	0.522000														147			57		0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68732150	68732150	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:68732150G>T	uc002ewf.2	+	15	3469	c.2337G>T	c.(2335-2337)gtG>gtT	p.V779V	CDH3_uc010vli.1_Silent_p.V724V	NM_001793	NP_001784	P22223	CADH3_HUMAN	Homo sapiens cadherin 3, type 1, P-cadherin (placental) (CDH3), mRNA.	779					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCCTCTTGGTGTTCGACTATG	0.622000														92			37		2.05212e-20	2.06383e-20	1	1	0
ACAN	176	broad.mit.edu	37	15	89381960	89381960	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89381960C>T	uc010upo.1	+	2	511	c.137C>T	c.(136-138)tCc>tTc	p.S46F	ACAN_uc002bmx.3_Missense_Mutation_p.S46F|ACAN_uc010upp.1_Missense_Mutation_p.S46F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	46					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)			CTGGGGACCTCCCTCACCATC	0.622000														118			37		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467449	56467449	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56467449C>T	uc002qmh.3	+	2	2096	c.2025C>T	c.(2023-2025)agC>agT	p.S675S	NLRP8_uc010etg.3_Silent_p.S675S	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	675						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCAGCTCCAGCTCCCATCCTG	0.547000														78			28		0	0	1	0	0
IFNA6	3443	broad.mit.edu	37	9	21350466	21350466	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21350466G>A	uc011lni.2	-	0	421	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L		NM_021002	NP_066282	P05013	IFNA6_HUMAN	Homo sapiens interferon, alpha 6 (IFNA6), mRNA.	141					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CTCACAGCCAGGATGGAGTCC	0.493000														335			46		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240417	3240417	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:3240417C>T	uc004crg.4	-	4	3466	c.3309G>A	c.(3307-3309)atG>atA	p.M1103I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1103						extracellular region				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)				ACATACTGCTCATTATACCCA	0.483000														15			27		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15758113	15758113	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15758113T>A	uc010xok.2	+	4	554	c.504T>A	c.(502-504)aaT>aaA	p.N168K	CYP4F3_uc010xol.2_Missense_Mutation_p.N168K|CYP4F3_uc002nbj.3_Missense_Mutation_p.N168K|CYP4F3_uc010xom.2_Missense_Mutation_p.N19K|CYP4F3_uc002nbk.3_Missense_Mutation_p.N168K|CYP4F3_uc010xon.2_5'Flank	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	168					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AGATTTTCAATGAGAGTGTGA	0.507000														167			24		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8130997	8130997	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8130997C>T	uc002mjf.3	-	62	8253	c.8236G>A	c.(8236-8238)Gag>Aag	p.E2746K	FBN3_uc002mje.3_Missense_Mutation_p.E542K	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2746						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAACCTTGCTCGTTTCCGCGG	0.687000														91			30		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48626890	48626890	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48626890G>A	uc003ctz.2	-	16	2185	c.2184C>T	c.(2182-2184)tcC>tcT	p.S728S		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	728	Fibronectin type-III 6.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAACCAACTGGGATTTCTCTG	0.622000														58			29		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77290750	77290750	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77290750C>T	uc003hkb.4	-	9	1329	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	392										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CCAGACTCAGCTCCTTCTCCC	0.443000														69			15		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171486848	171486848	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171486848C>T	uc010pmg.2	+	5	905	c.639C>T	c.(637-639)atC>atT	p.I213I	PRRC2C_uc001ghr.1_Silent_p.I215I	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	213							protein C-terminus binding										AAAATGATATCCTCAAAGTGG	0.498000														36			15		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884436	24884436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24884436C>T	uc001wpf.4	+	8	3799	c.3481C>T	c.(3481-3483)Cgc>Tgc	p.R1161C		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1161					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCTGCCCTTCCGCCTGGAGGT	0.647000														61			25		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207850802	207850802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207850802C>T	uc001hga.4	+	1	287	c.166C>T	c.(166-168)Ccc>Tcc	p.P56S	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	56	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CTTTGAGTTTCCCATTGGGAC	0.468000														126			41		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720077	146720077	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:146720077C>T	uc010khw.1	+	7	2372	c.1902C>T	c.(1900-1902)atC>atT	p.I634I	GRM1_uc010khv.1_Silent_p.I634I|GRM1_uc003qll.2_Silent_p.I634I|GRM1_uc011edz.1_Silent_p.I634I|GRM1_uc011eea.1_Silent_p.I634I	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	634					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCTACATCATCCTAGCTGGCA	0.522000														97			81		0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56525338	56525338	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56525338C>T	uc001sjr.3	+	5	910	c.792C>T	c.(790-792)ttC>ttT	p.F264F	ESYT1_uc001sjq.3_Silent_p.F264F	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	264						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CAATGTTCTTCATCCGACGCC	0.537000														140			49		0	0	1	0	0
RASSF8	11228	broad.mit.edu	37	12	26217491	26217491	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:26217491C>T	uc001rgx.3	+	2	390	c.164C>T	c.(163-165)cCt>cTt	p.P55L	RASSF8_uc001rgy.3_Missense_Mutation_p.P55L|RASSF8_uc001rgz.3_Missense_Mutation_p.P55L|RASSF8_uc009zjd.2_Missense_Mutation_p.P55L|RASSF8_uc009zje.2_Missense_Mutation_p.P55L	NM_001164748	NP_001158220	Q8NHQ8	RASF8_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 (RASSF8), transcript variant 3, mRNA.	55	Ras-associating.				signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					CACTTAGCACCTCATGAAAAT	0.428000														119			27		0	0	1	0	0
PDZD7	79955	broad.mit.edu	37	10	102789950	102789950	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:102789950G>A	uc001ksn.3	-	1	277	c.27C>T	c.(25-27)ttC>ttT	p.F9F	PDZD7_uc021pxc.1_Silent_p.F9F|PDZD7_uc001kso.2_Silent_p.F9F|SFXN3_uc001ksp.3_5'Flank|SFXN3_uc010qpx.2_5'Flank	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	9						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCAGTGGGTCGAAGCCCACTG	0.667000														16			4		0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148384332	148384333	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:148384332_148384333GG>AA	uc003lpu.3	-	16	3960_3961	c.3808_3809CC>TT	c.(3808-3810)ccc>TTc	p.P1270F	SH3TC2_uc003lpp.1_Intron|SH3TC2_uc010jgw.3_Missense_Mutation_p.P914F|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Missense_Mutation_p.P817F|SH3TC2_uc010jgx.3_Missense_Mutation_p.P1263F	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	1270							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCCGGAGGGCCTGCTGTGC	0.644000														23			9		0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	133119350	133119350	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:133119350G>A	uc010nrn.2	-	0	324	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	GPC3_uc004exe.2_Nonsense_Mutation_p.Q43*|GPC3_uc011mvh.2_Nonsense_Mutation_p.Q43*|GPC3_uc010nro.2_Nonsense_Mutation_p.Q43*|GPC3_uc010nrp.2_5'UTR	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	43						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TGCAGTCTCTGGAAGAAGGAG	0.692000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					6			7		0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71277022	71277022	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:71277022C>T	uc001oqt.1	+	0	414	c.389C>T	c.(388-390)tCc>tTc	p.S130F		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	130	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TGTGGGGGCTCCAAGGGGGGC	0.652000														180			48		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075287	9075287	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9075287G>A	uc002mkp.3	-	2	12363	c.12159C>T	c.(12157-12159)tcC>tcT	p.S4053S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4055	Ser-rich.|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						TTCTCTTAGAGGAGGTAATTT	0.502000														144			42		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196671484	196671484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196671484G>A	uc002utj.4	-	53	10257	c.10156C>T	c.(10156-10158)Cgt>Tgt	p.R3386C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3386			R -> H (in dbSNP:rs6708527).		ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R3386H(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTCAAGCAACGAATAATAAGC	0.393000														46			12		0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119509578	119509578	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:119509578C>T	uc003pym.1	-	10	2153	c.1711G>A	c.(1711-1713)Gcc>Acc	p.A571T		NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	571					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACCTCTACGGCTTCCCAGGCC	0.348000														89			43		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049851	69049851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:69049851C>T	uc010fdg.3	+	9	1999	c.1580C>T	c.(1579-1581)tCc>tTc	p.S527F	ARHGAP25_uc010yql.2_Missense_Mutation_p.S487F|ARHGAP25_uc002sew.3_Missense_Mutation_p.S519F|ARHGAP25_uc002sex.3_Missense_Mutation_p.S520F	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	526					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCCTGTGACTCCAAGGGAGAT	0.527000														110			61		0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99170840	99170840	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:99170840C>T	uc002syy.3	+	15	1862	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	INPP4A_uc010yvj.1_Missense_Mutation_p.S490L|INPP4A_uc010yvk.2_Missense_Mutation_p.S490L|INPP4A_uc002syx.3_Missense_Mutation_p.S485L|INPP4A_uc010fik.3_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	490					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TCTCCCACTTCGACTGAGGAG	0.602000														20			9		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307795	54307795	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54307795G>A	uc021smr.1	+	0	2695	c.2695G>A	c.(2695-2697)Gat>Aat	p.D899N	UNC13C_uc021sms.1_Missense_Mutation_p.D899N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	899					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)		TACTGAAACAGATGAACAAAT	0.378000														100			31		0	0	1	0	0
KRT17	3872	broad.mit.edu	37	17	39780712	39780712	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39780712G>A	uc002hxh.2	-	0	171	c.50C>T	c.(49-51)tCc>tTc	p.S17F	JUP_uc010wfs.2_Intron|KRT17_uc010wft.2_Missense_Mutation_p.S17F	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	17	Head.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CAGGCCGGAGGAGCCCTTGAT	0.716000														13			9		0	0	1	0	0
TFPI	7035	broad.mit.edu	37	2	188349653	188349653	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:188349653C>T	uc002upy.3	-	4	715	c.420G>A	c.(418-420)agG>agA	p.R140R	TFPI_uc002uqa.2_Silent_p.R140R|TFPI_uc002uqb.2_Silent_p.R140R	NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	140	BPTI/Kunitz inhibitor 2.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TATAAAAATACCTGGTAATAT	0.343000														63			7		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38750845	38750845	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38750845C>T	uc021yzh.1	+	16	2434	c.2325C>T	c.(2323-2325)tcC>tcT	p.S775S	DNAH8_uc003ooe.2_Silent_p.S558S	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACAAGATCTCCTATGTGCTGG	0.403000														55			24		0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120510351	120510351	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:120510351C>T	uc001txl.1	+	5	1151	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	CCDC64_uc001txk.2_Missense_Mutation_p.R376C|CCDC64_uc009zwv.1_Intron|CCDC64_uc010sze.1_Intron|CCDC64_uc010szf.1_Missense_Mutation_p.R25C	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA.	376					Golgi to secretory granule transport|neuron projection development	centrosome	Rab GTPase binding|dynactin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGCCAGGTTCGCTATCTGTG	0.522000														99			16		0	0	1	0	0
KBTBD5	131377	broad.mit.edu	37	3	42732372	42732372	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42732372C>T	uc003clv.1	+	4	1729	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	543										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCGAGGCCTTCCCACAGGAGC	0.622000														45			15		0	0	1	0	0
FXYD5	53827	broad.mit.edu	37	19	35657304	35657304	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35657304G>A	uc010xsq.2	+	7	651	c.563G>A	c.(562-564)gGt>gAt	p.G188D	FXYD5_uc002nyg.2_Intron|FXYD5_uc021usk.1_Intron|FXYD5_uc002nyh.2_Intron|FXYD5_uc021usl.1_Intron|FXYD5_uc002nyi.2_Intron|FXYD5_uc002nyj.1_5'Flank	NM_144779	NP_659003	Q96DB9	FXYD5_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 5 (FXYD5), transcript variant 1, mRNA.	0					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GTTCTCAAAGGTCCCTGGGCA	0.453000														49			5		0	0	1	0	0
MRPL51	51258	broad.mit.edu	37	12	6601548	6601548	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6601548G>A	uc001qom.2	-	2	445	c.276C>T	c.(274-276)atC>atT	p.I92I	NCAPD2_uc009zen.1_5'Flank|NCAPD2_uc001qoo.2_5'Flank|NCAPD2_uc010sfd.1_5'Flank	NM_016497	NP_057581	Q4U2R6	RM51_HUMAN	Homo sapiens mitochondrial ribosomal protein L51 (MRPL51), nuclear gene encoding mitochondrial protein, mRNA.	92					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TCCTCTTTCGGATACAACGTT	0.443000														283			88		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124740999	124740999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124740999C>T	uc001qbc.3	+	6	1292	c.1123C>T	c.(1123-1125)Cca>Tca	p.P375S		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	375	Ig-like C2-type 4.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGGAAACCCCCCACCTGCCAT	0.632000														53			11		0	0	1	0	0
TEX10	54881	broad.mit.edu	37	9	103109210	103109210	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:103109210G>A	uc004bas.3	-	2	874	c.659C>T	c.(658-660)tCt>tTt	p.S220F	TEX10_uc011lvf.2_Intron|TEX10_uc011lvg.2_Missense_Mutation_p.S223F|TEX10_uc011lvh.1_Missense_Mutation_p.S155F	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	220						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		CCATTGCTGAGAAGTGAGTCT	0.438000														79			16		0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26664512	26664512	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26664512C>T	uc001bmd.4	-	7	3648	c.3498G>A	c.(3496-3498)ggG>ggA	p.G1166G	AIM1L_uc001bmf.3_Silent_p.G12G	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	121							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCCTGGGCTCCCCTGGCTTCT	0.577000														15			9		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401959	10401959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10401959C>T	uc002gmo.3	-	29	4259	c.4165G>A	c.(4165-4167)Gag>Aag	p.E1389K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1389						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTCCAGCTCCTCTGTGCGC	0.478000														71			51		0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38121119	38121119	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:38121119G>A	uc001izd.1	-	5	1663	c.1164C>T	c.(1162-1164)acC>acT	p.T388T	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Silent_p.T388T	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TCTCCCAGAAGGTTTTCCCAC	0.443000														140			32		0	0	1	0	0
ZNF652	22834	broad.mit.edu	37	17	47390089	47390089	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:47390089G>A	uc002iov.4	-	2	1483	c.1019C>T	c.(1018-1020)aCc>aTc	p.T340I	ZNF652_uc002iow.3_Missense_Mutation_p.T340I|ZNF652_uc002iou.4_Non-coding_Transcript	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			ATGAGCCATGGTATAGAATTT	0.378000														54			16		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47274758	47274758	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:47274758G>A	uc002xtw.1	-	16	1913	c.1890C>T	c.(1888-1890)ccC>ccT	p.P630P	PREX1_uc002xtv.1_5'Flank	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	630	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCTCCTCCTGGGGCAGGATCT	0.672000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		268			31		0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150839020	150839020	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150839020C>T	uc003wjg.1	+	13	1843	c.1840C>T	c.(1840-1842)Ctc>Ttc	p.L614F	AGAP3_uc003wje.1_Missense_Mutation_p.L283F|AGAP3_uc003wjj.1_Missense_Mutation_p.L113F|AGAP3_uc003wjk.1_Missense_Mutation_p.L32F	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	578					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGTGGTGTCCCTCACTGGGCA	0.617000														94			8		0	0	1	0	0
QTRT1	81890	broad.mit.edu	37	19	10823277	10823277	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10823277C>T	uc002mpr.3	+	6	859	c.834C>T	c.(832-834)ttC>ttT	p.F278F	DNM2_uc010dxk.2_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase 1 (QTRT1), mRNA.	278					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GTGACATGTTCGACTGCGTCT	0.637000														166			65		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67066438	67066438	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:67066438G>T	uc003xvv.3	+	8	1619	c.1393G>T	c.(1393-1395)Ggt>Tgt	p.G465C	TRIM55_uc003xvu.3_Missense_Mutation_p.G465C|TRIM55_uc003xvw.3_Intron|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	465						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AGGGAGCGAAGGTCTGGGGCA	0.567000														67			7		8.12818e-05	8.13966e-05	1	1	0
NDUFAF1	51103	broad.mit.edu	37	15	41679779	41679779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:41679779C>T	uc001znx.3	-	4	1245	c.847G>A	c.(847-849)Gga>Aga	p.G283R	NDUFAF1_uc010bcf.3_Non-coding_Transcript	NM_016013	NP_057097	Q9Y375	CIA30_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1 (NDUFAF1), transcript variant 1, mRNA.	283					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		AAGGTGAATCCTATAGAAGAG	0.358000														67			17		0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22313149	22313149	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22313149C>T	uc001bfk.3	+	6	883	c.768C>T	c.(766-768)gtC>gtT	p.V256V	CELA3B_uc009vqf.3_Intron	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	256	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TCACTCGAGTCTCCGCCTTCA	0.607000														51			12		0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58077194	58077194	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:58077194C>T	uc002ena.3	+	7	2357	c.1384C>T	c.(1384-1386)Ccc>Tcc	p.P462S		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	462	Hemopexin-like 2.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CCTGGGCATCCCCTATGACCG	0.632000														9			3		0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420206	56420206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:56420206G>A	uc002rzn.3	+	1	1373	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	291	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGGCAGCCCCGAACAGCAAAG	0.627000														114			46		0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56952689	56952689	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56952689C>T	uc002qne.3	-	6	2466	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	ZNF667_uc010etl.3_Missense_Mutation_p.E341K|ZNF667_uc002qnd.3_Missense_Mutation_p.E559K|ZNF667_uc010etm.3_Missense_Mutation_p.E502K	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTCCCACATTCATTACATTCA	0.408000														115			23		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98763931	98763931	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98763931G>A	uc001kmw.2	-	33	4011	c.3759C>T	c.(3757-3759)gcC>gcT	p.A1253A		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1253	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCTGGTCAAAGGCAACCAGCT	0.557000														208			47		0	0	1	0	0
PPCS	79717	broad.mit.edu	37	1	42925347	42925347	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:42925347C>T	uc001chl.3	+	2	750	c.686C>T	c.(685-687)tCc>tTc	p.S229F	PPCS_uc001chk.3_Missense_Mutation_p.S56F	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN	Homo sapiens phosphopantothenoylcysteine synthetase (PPCS), transcript variant 1, mRNA.	229					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTTATAATTTCCTTTAAGTTG	0.388000														125			11		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218683210	218683210	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:218683210G>A	uc002vgt.2	-	23	3931	c.3533C>T	c.(3532-3534)cCt>cTt	p.P1178L	TNS1_uc002vgr.2_Missense_Mutation_p.P1165L|TNS1_uc002vgs.2_Missense_Mutation_p.P1157L|TNS1_uc010zjv.1_Missense_Mutation_p.P1157L	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1178						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCGCGCCTGAGGGCTCCCAGG	0.642000														53			31		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99308381	99308381	+	Missense_Mutation	SNP	C	T	T	rs147031398		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99308381C>T	uc003uru.3	-	9	1103	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	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.	334					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)					GTATCAATTTCCTTCTGCACT	0.453000														69			22		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523781	24523781	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:24523781C>T	uc002wtw.1	+	1	681	c.48C>T	c.(46-48)atC>atT	p.I16I		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	16					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ACAGTAAAATCAGTGATGCTG	0.517000														66			31		0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243354563	243354563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:243354563G>A	uc021plo.1	-	7	1273	c.865C>T	c.(865-867)Cca>Tca	p.P289S	CEP170_uc021plp.1_Missense_Mutation_p.P289S|CEP170_uc021plq.1_Missense_Mutation_p.P289S|Mir_350_uc021plr.1_5'Flank	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	289						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ACCTTCCCTGGGGTACTGTCA	0.438000														20			4		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6484041	6484041	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:6484041G>A	uc001iji.1	-	14	1833	c.1749C>T	c.(1747-1749)atC>atT	p.I583I	PRKCQ_uc001ijj.2_Silent_p.I550I|PRKCQ_uc009xim.2_Intron|PRKCQ_uc009xin.2_Silent_p.I514I|PRKCQ_uc010qax.2_Silent_p.I425I	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	550	Protein kinase.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GACCCAGCAAGATCTGCACAA	0.507000														45			11		0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6760821	6760821	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6760821C>T	uc002mft.3	-	2	441	c.247G>A	c.(247-249)Gag>Aag	p.E83K	SH2D3A_uc010xjg.2_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	83	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGGAATTGCTCATCCTCCAGT	0.637000														54			20		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44004474	44004474	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:44004474G>A	uc003bdy.2	-	21	2883	c.2569C>T	c.(2569-2571)Cta>Tta	p.L857L	EFCAB6_uc003bdz.2_Silent_p.L705L|EFCAB6_uc010gzi.2_Silent_p.L705L|EFCAB6_uc010gzj.1_Intron	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	857	EF-hand 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCGGTTTCTAGAAAATTCTAC	0.398000														57			36		0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23647609	23647609	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23647609G>A	uc002dlx.1	-	3	458	c.258C>T	c.(256-258)acC>acT	p.T86T		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	86	Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CATCAAGATGGGTTTTGATGT	0.328000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						16			9		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13357153	13357153	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:13357153C>T	uc003wwm.2	-	1	872	c.428G>A	c.(427-429)gGa>gAa	p.G143E	DLC1_uc003wwn.3_Missense_Mutation_p.G143E|DLC1_uc011kxy.2_Missense_Mutation_p.G143E	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	143					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGAGCCTGCTCCTTGGATCAT	0.408000														149			79		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57330048	57330049	+	Nonsense_Mutation	DNP	AC	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57330048_57330049AC>TA	uc002qnu.2	-	4	1042_1043	c.691_692GT>TA	c.(691-693)gtg>TAg	p.V231*	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Nonsense_Mutation_p.V106*|PEG3_uc010etp.2_Nonsense_Mutation_p.V106*|PEG3_uc010ygs.1_Nonsense_Mutation_p.V106*|PEG3_uc002qnq.2_Nonsense_Mutation_p.V106*|PEG3_uc002qnt.2_Nonsense_Mutation_p.V232*|PEG3_uc002qnv.2_Nonsense_Mutation_p.V231*|PEG3_uc002qnw.2_Nonsense_Mutation_p.V106*|PEG3_uc002qnx.2_Nonsense_Mutation_p.V105*|PEG3_uc010etr.2_Nonsense_Mutation_p.V231*	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	231					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAGGTCCACCACATTTTGGTAT	0.480000														84			30		0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30551997	30551997	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30551997C>T	uc003nql.3	+	12	1226	c.1131C>T	c.(1129-1131)gtC>gtT	p.V377V	ABCF1_uc003nqk.2_Silent_p.V378V|ABCF1_uc003nqm.3_Silent_p.V339V|MIR877_uc021yud.1_5'Flank	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	377	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CACCAGCAGTCCAGGCTGTTC	0.552000														65			6		0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	430734	430734	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:430734G>A	uc002loq.4	-	8	1124	c.1124C>T	c.(1123-1125)tCt>tTt	p.S375F		NM_012435	NP_036567	P98077	SHC2_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 2 (SHC2), mRNA.	375	CH1.				Ras protein signal transduction|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ATCTCTTAGAGAAGGAGATGG	0.647000														29			8		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160843796	160843796	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:160843796G>A	uc002ube.2	-	11	2120	c.1908C>T	c.(1906-1908)caC>caT	p.H636H	PLA2R1_uc010zcp.2_Silent_p.H636H|PLA2R1_uc002ubf.3_Silent_p.H636H	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	636	C-type lectin 3.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTGCCTTAAAGTGCCGACAGT	0.483000														40			7		0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155160	12155160	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12155160C>T	uc021upl.1	-	3	1222	c.1056G>A	c.(1054-1056)aaG>aaA	p.K352K	ZNF878_uc002mta.1_Silent_p.K399K	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TTCGAAGATCCTTGACAAAAC	0.373000														85			7		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501656	140501656	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140501656C>T	uc003lip.1	+	0	76	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	26					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCTCAGGTTCGCCTCGAGCC	0.502000														67			27		0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26719613	26719613	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:26719613C>T	uc003gsf.4	+	13	1283	c.1013C>T	c.(1012-1014)gCc>gTc	p.A338V	TBC1D19_uc010iew.3_Missense_Mutation_p.A338V|TBC1D19_uc011bxu.2_Missense_Mutation_p.A273V	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	338	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TTCAACAGTGCCTCGCCACCA	0.299000														97			33		0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37067192	37067192	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:37067192C>T	uc003cgl.3	+	11	1301	c.1103C>T	c.(1102-1104)tCg>tTg	p.S368L	MLH1_uc011aye.2_Missense_Mutation_p.S127L|MLH1_uc011ayb.2_Missense_Mutation_p.S127L|MLH1_uc010hge.3_Missense_Mutation_p.S368L|MLH1_uc011ayc.2_Missense_Mutation_p.S270L|MLH1_uc011ayd.2_Missense_Mutation_p.S127L|MLH1_uc003cgo.3_Missense_Mutation_p.S127L|MLH1_uc003cgn.4_Missense_Mutation_p.S127L|MLH1_uc010hgg.1_Missense_Mutation_p.S27L|MLH1_uc010hgh.1_Missense_Mutation_p.S27L|MLH1_uc010hgi.1_Missense_Mutation_p.S10L|MLH1_uc010hgj.1_Missense_Mutation_p.S10L|MLH1_uc010hgk.3_Missense_Mutation_p.S10L|MLH1_uc010hgl.1_Intron|MLH1_uc010hgn.3_Missense_Mutation_p.S10L|MLH1_uc010hgm.3_Non-coding_Transcript|MLH1_uc010hgo.3_Missense_Mutation_p.S10L	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	368					mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)|p.T367A(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AGTCTGACCTCGTCTTCTACT	0.423000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					68			43		0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55056065	55056065	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:55056065G>A	uc003jqg.4	+	3	264	c.165G>A	c.(163-165)atG>atA	p.M55I	DDX4_uc010ivz.3_Missense_Mutation_p.M55I|DDX4_uc003jqh.4_Missense_Mutation_p.M55I	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	55					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ATCATTTCATGAAAAGTGGAT	0.358000														95			41		0	0	1	0	0
MKNK2	2872	broad.mit.edu	37	19	2040160	2040160	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:2040160G>A	uc002lus.2	-	12	1372	c.1127C>T	c.(1126-1128)aCc>aTc	p.T376I	MKNK2_uc021ump.1_5'Flank|MKNK2_uc002luq.1_Missense_Mutation_p.T120I|MKNK2_uc010xgu.1_Missense_Mutation_p.T215I|MKNK2_uc010xgv.1_Missense_Mutation_p.T245I|MKNK2_uc002lur.2_Missense_Mutation_p.T376I|MKNK2_uc002lut.1_3'UTR	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 2 (MKNK2), transcript variant 2, mRNA.	376	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		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)		AGTGGGCAAGGTGTTCTCCGG	0.677000														8			3		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73569208	73569208	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73569208C>T	uc002joh.3	+	19	2728	c.2574C>T	c.(2572-2574)gaC>gaT	p.D858D	LLGL2_uc002joi.3_Silent_p.D858D|LLGL2_uc010dgg.2_Silent_p.D858D|LLGL2_uc002joj.3_Silent_p.D847D|LLGL2_uc010wsd.2_Silent_p.D485D	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	858					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GAGCCGAGGACTACGGGGAGC	0.657000														42			17		0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29222072	29222072	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29222072C>T	uc010ezl.3	+	3	516	c.165C>T	c.(163-165)gcC>gcT	p.A55A	FAM179A_uc010ymm.2_Silent_p.A55A	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	55			A -> T (in dbSNP:rs13009279).				binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGCCAAGAGCCCTGCTGAACA	0.622000														20			6		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95088716	95088716	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:95088716C>T	uc001ydp.3	+	3	1115	c.956C>T	c.(955-957)tCg>tTg	p.S319L	SERPINA3_uc001ydo.4_Missense_Mutation_p.S344L|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.S319L|SERPINA3_uc001yds.3_Missense_Mutation_p.S319L	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	319					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.S319L(2)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TTTTCCATCTCGAGGGACTAT	0.498000														105			27		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53420813	53420813	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:53420813G>A	uc001vhi.3	-	0	1963	c.1759C>T	c.(1759-1761)Cct>Tct	p.P587S	PCDH8_uc001vhj.3_Missense_Mutation_p.P587S	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	587	Cadherin 5.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GAAAGCTGAGGGGAGCCGCCG	0.652000														14			4		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516978	140516978	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140516978C>T	uc003liq.3	+	0	2179	c.1962C>T	c.(1960-1962)acC>acT	p.T654T		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	654	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCGGCCACCGCCACGCTGC	0.731000														119			18		0	0	1	0	0
KLC4	89953	broad.mit.edu	37	6	43039885	43039885	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43039885C>T	uc003otw.1	+	12	1753	c.1434_splice	c.e12-1	p.S478_splice	KLC4_uc003otr.1_Splice_Site|KLC4_uc003otv.1_Splice_Site_p.S460_splice|KLC4_uc011dvd.1_Splice_Site_p.S383_splice|KLC4_uc003otx.1_Splice_Site_p.S460_splice|KLC4_uc003oty.1_Splice_Site_p.S460_splice|KLC4_uc003otz.1_Splice_Site_p.S460_splice	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	460						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CTCACCACAGCCCCACAGTGA	0.483000														124			9		0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62594450	62594450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62594450G>A	uc002yhl.1	-	11	2020	c.1966C>T	c.(1966-1968)Ccc>Tcc	p.P656S		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	656					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCACTCACGGGGGCCGTGTGC	0.622000														8			3		0	0	1	0	0
ADRB1	153	broad.mit.edu	37	10	115804617	115804617	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115804617C>T	uc001lba.3	+	0	812	c.726C>T	c.(724-726)ttC>ttT	p.F242F		NM_000684	NP_000675	P08588	ADRB1_HUMAN	Homo sapiens adrenergic, beta-1-, receptor (ADRB1), mRNA.	242					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	TCATGGCCTTCGTGTACCTGC	0.657000														51			5		0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275004	29275004	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29275004C>T	uc011dln.2	+	0	538	c.538C>T	c.(538-540)Cct>Tct	p.P180S		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CTGTGATGTTCCTCAGATGCT	0.453000														154			36		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202753	39202753	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:39202753C>T	uc003jls.3	-	0	377	c.310G>A	c.(310-312)Gag>Aag	p.E104K	FYB_uc003jlt.3_Missense_Mutation_p.E104K|FYB_uc003jlu.3_Missense_Mutation_p.E104K|FYB_uc011cpl.2_Missense_Mutation_p.E114K	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	104					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding	p.P103P(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ACTTTCGCCTCGGGGTCTCTG	0.542000														35			14		0	0	1	0	0
CDX1	1044	broad.mit.edu	37	5	149563070	149563070	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149563070G>A	uc003lrq.3	+	2	721	c.625G>A	c.(625-627)Gag>Aag	p.E209K		NM_001804	NP_001795	P47902	CDX1_HUMAN	Homo sapiens caudal type homeobox 1 (CDX1), mRNA.	209						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGGCAAAGGAGCGCAAAGT	0.612000														34			15		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677281	100677281	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100677281G>A	uc003uxp.1	+	2	2637	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	862	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S861T(3)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTTATAGTGAAGGAAGAAC	0.488000														478			181		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124369665	124369665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124369665G>A	uc003ehg.3	+	37	5799	c.5672G>A	c.(5671-5673)gGa>gAa	p.G1891E	KALRN_uc003ehi.3_Missense_Mutation_p.G232E|KALRN_uc003ehk.3_Missense_Mutation_p.G194E|KALRN_uc011bjz.2_5'UTR|KALRN_uc003ehj.2_Missense_Mutation_p.G162E	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1890					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGTCTAGAAGGAAGCTCATAC	0.498000														101			28		0	0	1	0	0
MYLPF	29895	broad.mit.edu	37	16	30387211	30387211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30387211C>T	uc002dxv.1	+	1	130	c.74C>T	c.(73-75)aCt>aTt	p.T25I	ZNF48_uc021tgi.1_5'Flank|ZNF48_uc021tgj.1_5'Flank	NM_013292	NP_037424	Q96A32	MLRS_HUMAN	Homo sapiens myosin light chain, phosphorylatable, fast skeletal muscle (MYLPF), mRNA.	25	EF-hand 1.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			TTCGACCAGACTCAGATCCAG	0.597000														27			5		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116599799	116599799	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:116599799G>T	uc002tle.3	+	25	2302	c.2281G>T	c.(2281-2283)Gaa>Taa	p.E761*	DPP10_uc002tla.2_Nonsense_Mutation_p.E757*|DPP10_uc002tlb.2_Nonsense_Mutation_p.E707*|DPP10_uc002tlc.2_Nonsense_Mutation_p.E753*|DPP10_uc002tlf.2_Nonsense_Mutation_p.E750*	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	757					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTACCCAGATGAAGGTCATAA	0.383000														48			11		1.08611e-07	1.08895e-07	1	1	0
CES1	1066	broad.mit.edu	37	16	55862776	55862776	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:55862776G>A	uc002eim.3	-	1	268	c.160C>T	c.(160-162)Cct>Tct	p.P54S	CES1_uc002eil.3_Missense_Mutation_p.P55S|CES1_uc002ein.3_Missense_Mutation_p.P54S	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	54					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TTGGCAAAAGGGATTCCCAGG	0.557000														38			7		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3081303	3081303	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:3081303C>T	uc022aqr.1	-	27	4822	c.4432G>A	c.(4432-4434)Gac>Aac	p.D1478N	CSMD1_uc011kwj.2_Missense_Mutation_p.D871N|CSMD1_uc003wqe.3_Missense_Mutation_p.D635N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1479	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCTCCAGTCACATTCCTTC	0.463000														60			24		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16910722	16910722	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16910722C>T	uc002neu.4	+	16	3907	c.3485C>T	c.(3484-3486)aCc>aTc	p.T1162I	NWD1_uc002net.4_Missense_Mutation_p.T1027I|NWD1_uc002nev.4_Missense_Mutation_p.T956I|NWD1_uc021uqg.1_Missense_Mutation_p.T1027I	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1162							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						GAACAGGGGACCCTTCTGGAC	0.582000														60			9		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605214	140605214	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140605214C>T	uc003ljb.3	+	0	2137	c.2137C>T	c.(2137-2139)Ctg>Ttg	p.L713L		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	713					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGGTGCGGCTGTGCAGGAG	0.692000														245			46		0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8183561	8183561	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:8183561C>T	uc003sro.4	-	8	982	c.846G>A	c.(844-846)gaG>gaA	p.E282E	ICA1_uc010ktr.3_Silent_p.E282E|ICA1_uc003srm.3_Silent_p.E282E|ICA1_uc003srn.4_Silent_p.E208E|ICA1_uc003srq.3_Silent_p.E282E|ICA1_uc003srr.3_Silent_p.E281E|ICA1_uc010kts.3_Intron	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	282					neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		p.E282K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTTTCTTCTTCTCTTCTTTCT	0.408000														40			22		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200508	155200508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:155200508C>T	uc021xge.1	-	22	3608	c.3331G>A	c.(3331-3333)Ggt>Agt	p.G1111S	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.G1073S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1111					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCAGGATTACCCTTTTCCTTG	0.473000														91			43		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20806929	20806929	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:20806929C>T	uc001reh.2	+	14	3014	c.2974C>T	c.(2974-2976)Cgt>Tgt	p.R992C	PDE3A_uc021qwa.1_Missense_Mutation_p.R670C	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	992	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTTCATGGATCGTTCTGCTCC	0.468000														64			22		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111138100	111138100	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:111138100C>T	uc001vqx.3	+	33	3413	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1042	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CATCGGAGTCCCCGGCATCCC	0.617000														63			30		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830182	13830182	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13830182C>T	uc003jfd.2	-	36	6244	c.6202G>A	c.(6202-6204)Gga>Aga	p.G2068R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2068	AAA 1 (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)					ACATTATCTCCATCAGTAAAG	0.378000									Kartagener syndrome					49			14		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151927040	151927040	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:151927040G>A	uc003wla.3	-	17	3163	c.2944C>T	c.(2944-2946)Cag>Tag	p.Q982*	MLL3_uc003wkz.3_Nonsense_Mutation_p.Q43*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	982					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGGTAACACTGACCACACTGA	0.343000			N		medulloblastoma									441			26		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150842649	150842649	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:150842649C>T	uc004fev.4	+	14	2498	c.2166C>T	c.(2164-2166)acC>acT	p.T722T		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	722						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)					GCCAACCCACCTACCATCAGG	0.567000														52			36		0	0	1	0	0
NKG7	4818	broad.mit.edu	37	19	51875645	51875645	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51875645C>T	uc002pwj.3	-	0	316	c.145G>A	c.(145-147)Gac>Aac	p.D49N	NKG7_uc002pwk.3_Missense_Mutation_p.D49N	NM_005601	NP_005592	Q16617	NKG7_HUMAN	Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA.	49						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GATATGATGTCCCCATGCCCT	0.582000														164			52		0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44589351	44589351	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44589351G>A	uc002xqw.3	-	11	1809	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F	ZNF335_uc010zxk.2_Silent_p.F407F	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CAGGGCAGGGGAAAGAGCTCA	0.557000														92			30		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955629	18955629	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:18955629G>A	uc001mpg.3	-	0	921	c.703C>T	c.(703-705)Cag>Tag	p.Q235*		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	235					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGAAAAACTGAATGCCAAAG	0.478000														37			17		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28722112	28722112	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28722112C>T	uc002kwn.3	-	8	1372	c.1110G>A	c.(1108-1110)gtG>gtA	p.V370V	DSC1_uc002kwm.3_Silent_p.V370V	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	370	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GTAAAATCTCCACGTCAATTC	0.333000														82			19		0	0	1	0	0
MXRA8	54587	broad.mit.edu	37	1	1290115	1290116	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1290115_1290116GG>AC	uc001aex.4	-	4	926_927	c.895_896CC>GT	c.(895-897)ccc>GTc	p.P299V	MXRA8_uc001aew.3_Missense_Mutation_p.P299V|MXRA8_uc001aey.4_Missense_Mutation_p.P299V|MXRA8_uc001aez.3_Missense_Mutation_p.P198V|MXRA8_uc001afa.3_Missense_Mutation_p.P290V	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	Homo sapiens matrix-remodelling associated 8 (MXRA8), mRNA.	299						integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCCCCGGGGGGGCGGCTCCGCG	0.733000														19			7		0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173352339	173352339	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:173352339C>T	uc002uhp.1	+	15	2428	c.2225C>T	c.(2224-2226)cCt>cTt	p.P742L	ITGA6_uc010zdy.1_Missense_Mutation_p.P623L|ITGA6_uc002uho.1_Missense_Mutation_p.P742L|ITGA6_uc010fqm.1_Missense_Mutation_p.P388L	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	781					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CTCGGAAATCCTTTTAAAAGA	0.408000														57			17		0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100657	93100657	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:93100657C>T	uc001tch.2	+	1	701	c.250C>T	c.(250-252)Ctt>Ttt	p.L84F	C12orf74_uc001tci.3_Missense_Mutation_p.L84F|C12orf74_uc021rbt.1_Missense_Mutation_p.L84F	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	84										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCCATGTTACCTTTCGAAGAG	0.557000														48			22		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121976336	121976336	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:121976336C>T	uc004bkc.2	-	5	1239	c.783G>A	c.(781-783)caG>caA	p.Q261Q	DBC1_uc004bkd.2_Silent_p.Q261Q	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	261					cell cycle arrest|cell death	cytoplasm	protein binding			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						ACTGGCTGTTCTGGCACAGGT	0.537000														71			16		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3265542	3265542	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:3265542G>A	uc022aqr.1	-	13	2340	c.1950C>T	c.(1948-1950)gtC>gtT	p.V650V	CSMD1_uc011kwj.2_Silent_p.V43V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	651	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTACCCAGGACAGTTATGT	0.463000														36			5		0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86965435	86965435	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:86965435G>A	uc001dlt.3	+	13	2712	c.2452G>A	c.(2452-2454)Gaa>Aaa	p.E818K		NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	818					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CATCCCAAAGGAAGCCAACTC	0.363000														160			37		0	0	1	0	0
TPTEP1	387590	broad.mit.edu	37	22	17178965	17178965	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17178965C>T	uc002zls.1	+	2		c.1047C>T								Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		TGGTGGGGCTCACCGGGGCAT	0.587000														24			7		0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102441875	102441875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:102441875C>T	uc002tbc.3	+	4	779	c.401C>T	c.(400-402)tCc>tTc	p.S134F	MAP4K4_uc002tbf.3_Missense_Mutation_p.S134F|MAP4K4_uc002tbd.3_Missense_Mutation_p.S134F|MAP4K4_uc010yvy.2_Missense_Mutation_p.S134F|MAP4K4_uc002tbh.3_Missense_Mutation_p.S134F|MAP4K4_uc002tbg.3_Missense_Mutation_p.S134F|MAP4K4_uc002tbi.3_Missense_Mutation_p.S134F|MAP4K4_uc010yvz.2_Missense_Mutation_p.S114F|MAP4K4_uc010fiw.1_Intron|MAP4K4_uc002tbj.1_Missense_Mutation_p.S30F	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	134	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCTTACATCTCCAGAGAAATC	0.478000														34			9		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50405665	50405665	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:50405665C>T	uc003daq.3	-	25	2105	c.2067_splice	c.e25-1	p.R689_splice	CACNA2D2_uc003dap.3_Splice_Site_p.R682_splice	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	689					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TTGCAGTACTCTCTAGGGATG	0.537000														134			52		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100261751	100261751	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:100261751C>T	uc021xqi.1	-	6		c.1030G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TAGCTCCTTTCCACGTGCGTC	0.438000														203			69		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142625187	142625187	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142625187C>T	uc003wby.1	-	6	1169	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	TRPV5_uc003wbz.3_Missense_Mutation_p.R302Q	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	302					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.R302R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCATACCTCTCGTTTATCAGA	0.522000														66			13		0	0	1	0	0
RETN	56729	broad.mit.edu	37	19	7734761	7734761	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7734761G>A	uc002mhg.1	+	2	210	c.173G>A	c.(172-174)gGg>gAg	p.G58E	RETN_uc002mhf.1_Missense_Mutation_p.G58E|RETN_uc010dvm.1_Intron	NM_001193374	NP_065148	Q9HD89	RETN_HUMAN	Homo sapiens resistin (RETN), transcript variant 2, mRNA.	58							hormone activity			ovary(1)	1						ACCTCCAGGGGGGACCTGGCT	0.617000														33			15		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131521956	131521956	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:131521956G>A	uc021voy.1	+	0	2311	c.2311G>A	c.(2311-2313)Gag>Aag	p.E771K	FAM123C_uc002trw.2_Missense_Mutation_p.E771K|FAM123C_uc010fmv.2_Missense_Mutation_p.E771K|FAM123C_uc010fms.1_Missense_Mutation_p.E771K|FAM123C_uc010fmt.1_Missense_Mutation_p.E771K|FAM123C_uc010fmu.1_Missense_Mutation_p.E771K	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	771										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGCCTCTGTGGAGGACCAGCC	0.677000														19			8		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36342177	36342177	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36342177G>A	uc002oby.3	-	2	540	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	128	Ig-like C2-type 1.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGATGGAGAGGATCACTCTGG	0.642000														36			17		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23117572	23117572	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23117572G>A	uc002dll.3	-	3	915	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	305					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AAATGCAAAGGAAAGGATCAA	0.383000														59			19		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580471	140580471	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140580471C>T	uc003liy.3	+	0	1124	c.1124C>T	c.(1123-1125)tCt>tTt	p.S375F		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	375	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S375P(1)		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)			GATATAGACTCTGGGGACAAC	0.428000														110			32		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11058943	11058943	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:11058943G>A	uc010hdq.3	+	2	457	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	16					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GATCTCCACCGAGGTCAGCGA	0.642000														55			16		0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108861132	108861132	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:108861132G>A	uc001vqn.3	-	1	2758	c.2485C>T	c.(2485-2487)Ctg>Ttg	p.L829L	LIG4_uc001vqo.3_Silent_p.L829L|LIG4_uc010agf.3_Silent_p.L829L|LIG4_uc001vqp.3_Silent_p.L829L|LIG4_uc010agg.1_Silent_p.L762L|LIG4_uc021rmk.1_Silent_p.L829L	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	829	BRCT 2.				DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTGGTACTCAGGTCATTAATA	0.428000								Non-homologous end-joining						79			18		0	0	1	0	0
TPRX1	284355	broad.mit.edu	37	19	48305051	48305051	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:48305051C>T	uc002php.2	-	1	1357	c.1217G>A	c.(1216-1218)aGg>aAg	p.R406K		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	Homo sapiens tetra-peptide repeat homeobox 1 (TPRX1), mRNA.	406						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		CAGTAATAACCTGGGGCCTGA	0.517000														104			9		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124413966	124413966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124413966G>A	uc001uft.4	+	69	12122	c.12097G>A	c.(12097-12099)Gag>Aag	p.E4033K	DNAH10_uc001ufu.4_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	4033	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGTGGTGCAGGAGAGAAGGAA	0.517000														27			7		0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47423320	47423320	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:47423320C>T	uc002zhu.1	+	34	2582	c.2480C>T	c.(2479-2481)cCg>cTg	p.P827L	COL6A1_uc002zhv.1_Missense_Mutation_p.P158L	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	827	C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TTCTCCTCCCCGGCTGACATC	0.677000														62			7		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89971131	89971131	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89971131C>T	uc003kju.3	+	23	5278	c.5182C>T	c.(5182-5184)Cca>Tca	p.P1728S	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1728					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGCAGCGTTCCACATATCAC	0.547000														19			11		0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241831098	241831098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241831098G>A	uc002wae.4	-	1	756	c.597C>T	c.(595-597)ttC>ttT	p.F199F	C2orf54_uc002wac.3_Silent_p.F31F|C2orf54_uc002wad.3_Silent_p.F50F	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	199										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCACCACGTGGAAGCTGATTG	0.627000														73			39		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121344402	121344402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:121344402C>T	uc003yox.3	+	40	4947	c.4682C>T	c.(4681-4683)tCc>tTc	p.S1561F	COL14A1_uc003yoz.3_Missense_Mutation_p.S526F	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1561	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGGATGGATCCTCGGGACCT	0.463000														43			19		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539788	55539788	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55539788C>T	uc003xsd.1	+	3	3494	c.3346C>T	c.(3346-3348)Ccc>Tcc	p.P1116S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1116					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGCAGGTGTTCCCTTTCATTC	0.423000														58			19		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279210	47279210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47279210G>A	uc001cqn.4	+	4	636	c.552G>A	c.(550-552)gtG>gtA	p.V184V	CYP4B1_uc009vyl.1_Silent_p.V21V|CYP4B1_uc001cqm.4_Silent_p.V184V|CYP4B1_uc009vym.3_Silent_p.V169V|CYP4B1_uc010omk.2_Silent_p.V21V|CYP4B1_uc010oml.1_Silent_p.V21V	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	184					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TCTGCGATGTGGGTCACATGG	0.582000														67			19		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515108	233515108	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233515108G>A	uc001hvt.4	+	8	2617	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K	KIAA1804_uc001hvu.4_Missense_Mutation_p.E232K	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	786					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CACCTGTGGGGAGGCCAGCAG	0.597000														79			8		0	0	1	0	0
RHOD	29984	broad.mit.edu	37	11	66834233	66834233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66834233G>A	uc001ojv.3	+	2	330	c.245G>A	c.(244-246)cGg>cAg	p.R82Q		NM_014578	NP_055393	O00212	RHOD_HUMAN	Homo sapiens ras homolog gene family, member D (RHOD), mRNA.	82					Rho protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						GACCGCCTGCGGCCCCTGTTC	0.607000														126			76		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059682	152059682	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152059682G>A	uc001ezo.1	-	2	541	c.476C>T	c.(475-477)cCa>cTa	p.P159L		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	159							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)			TTCTCTCCATGGGTCCACTCT	0.453000														100			16		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36778896	36778896	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36778896C>T	uc003cgi.2	-	1	1746	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	419	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCGTAGACTTCATGCAATTTC	0.493000														59			15		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10602081	10602081	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:10602081C>T	uc010rcc.1	-	19	2802	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Missense_Mutation_p.E798K|MRVI1_uc001miw.2_Missense_Mutation_p.E797K|MRVI1_uc001mix.3_Missense_Mutation_p.E491K|MRVI1_uc001miz.2_Missense_Mutation_p.E715K|MRVI1_uc010rcd.1_Missense_Mutation_p.E600K|MRVI1_uc009ygd.1_Missense_Mutation_p.E491K	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	779	Glu-rich.				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCTGTTCTTCCTCCTCCTCC	0.493000														184			72		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451867	19451867	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19451867C>T	uc002dgc.4	+	2	1256	c.507C>T	c.(505-507)aaC>aaT	p.N169N	TMC5_uc010vaq.2_Silent_p.N169N|TMC5_uc002dgb.4_Silent_p.N169N|TMC5_uc010var.2_Silent_p.N169N	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	169						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						CTCAGAGCAACTCTGATCATC	0.478000														144			43		0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164507064	164507064	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:164507064C>T	uc003iqs.2	-	5	442	c.260G>A	c.(259-261)gGg>gAg	p.G87E	MARCH1_uc003iqr.2_Missense_Mutation_p.G70E	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	87					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)				CTCTTCATCCCCTTCGCAGTG	0.522000														35			12		0	0	1	0	0
C7orf29	113763	broad.mit.edu	37	7	150028044	150028044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150028044C>T	uc003wgy.3	+	0	1107	c.551C>T	c.(550-552)tCg>tTg	p.S184L	LRRC61_uc003wgv.3_Intron|LRRC61_uc003wgx.3_Intron|LRRC61_uc003wgw.3_Intron	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	Homo sapiens chromosome 7 open reading frame 29 (C7orf29), mRNA.	184										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9			OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGCGGGGGCTCGCTGTCCACC	0.622000														19			12		0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53157753	53157753	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:53157753G>A	uc003dgj.3	-	2	307	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L		NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA.	85					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		AGCCACAGCAGGTTGAGGGTC	0.552000														49			25		0	0	1	0	0
MFSD10	10227	broad.mit.edu	37	4	2935555	2935555	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:2935555G>A	uc003gfw.3	-	0	410	c.96C>T	c.(94-96)ctC>ctT	p.L32L	MFSD10_uc021xks.1_5'Flank|MFSD10_uc003gfz.3_Silent_p.L32L|NOP14-AS1_uc003ggd.1_5'Flank|NOP14-AS1_uc003gge.1_5'Flank|NOP14-AS1_uc003ggg.1_5'Flank|NOP14-AS1_uc003ggh.3_5'Flank	NM_001120	NP_001139541	Q14728	MFS10_HUMAN	Homo sapiens major facilitator superfamily domain containing 10 (MFSD10), transcript variant 1, mRNA.	32					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGTCCAGCAGGAGGCCGAGAA	0.716000														4			4		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57865804	57865804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57865804C>T	uc001snx.3	+	11	3375	c.3281C>T	c.(3280-3282)tCc>tTc	p.S1094F	GLI1_uc021qzi.1_Missense_Mutation_p.S1053F|GLI1_uc009zpq.3_Missense_Mutation_p.S966F	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	1094					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.S1094F(4)|p.R1093S(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TTACTGAGATCCCTACCTGGG	0.532000														94			30		0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770252	53770253	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53770252_53770253GG>AA	uc010ydu.2	-	0	666_667	c.666_667CC>TT	c.(664-669)tccccc>tcTTcc	p.P223S		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	223					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GAGGCTCTGGGGGAGAGATTGC	0.535000										HNSCC(26;0.072)				18			8		0	0	1	0	0
NKAIN1	79570	broad.mit.edu	37	1	31656841	31656841	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:31656841G>A	uc010ogd.2	-	3	634	c.294C>T	c.(292-294)acC>acT	p.T98T	NKAIN1_uc010ogc.2_Silent_p.T27T	NM_024522	NP_078798	Q4KMZ8	NKAI1_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 1 (NKAIN1), mRNA.	98						integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		ATGTGTTGAAGGTCATGATGA	0.612000											OREG0004725	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			13		0	0	1	0	0
NCR3	259197	broad.mit.edu	37	6	31560469	31560469	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31560469G>A	uc003nuv.2	-	0	294	c.30C>T	c.(28-30)atC>atT	p.I10I	NCR3_uc003nuw.2_Silent_p.I10I|NCR3_uc003nux.1_Silent_p.I10I	NM_147130	NP_667341	O14931	NCTR3_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 3 (NCR3), transcript variant 1, mRNA.	10					cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						GATGGACCATGATCAAGATGA	0.587000														36			5		0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40030130	40030130	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:40030130G>A	uc001cdl.2	-	9	2316	c.1418C>T	c.(1417-1419)gCc>gTc	p.A473V	PABPC4_uc010oiv.1_Intron|PABPC4_uc001cdm.2_Missense_Mutation_p.A473V	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	468					RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	p.P473L(1)|p.P473P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCCACGAGAGGCCGGAGCATT	0.562000														120			49		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145427421	145427421	+	Silent	SNP	G	A	A	rs75157444	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:145427421G>A	uc003lnt.3	+	5	1384	c.1146G>A	c.(1144-1146)gcG>gcA	p.A382A	SH3RF2_uc011dbl.1_Silent_p.A382A|SH3RF2_uc011dbm.1_5'Flank|SH3RF2_uc003lnu.3_5'Flank	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	382	SH3 3.						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)			ACCTCTCAGCGAACATGTGAG	0.527000														29			41		0	0	1	0	0
BTN3A2	11118	broad.mit.edu	37	6	26368453	26368453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:26368453C>T	uc010jqh.2	+	2	302	c.43C>T	c.(43-45)Cat>Tat	p.H15Y	BTN3A2_uc003nhp.3_Missense_Mutation_p.H15Y|BTN3A2_uc011dkd.2_Intron|BTN3A2_uc011dke.2_Intron|BTN3A2_uc010jqi.2_Missense_Mutation_p.H15Y	NM_001197247	NP_001184176	P78410	BT3A2_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A2 (BTN3A2), transcript variant 3, mRNA.	15						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GCTCAACTTTCATGTCTCCCT	0.453000														105			53		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134896158	134896158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:134896158C>T	uc001llw.3	+	5	1244	c.1244C>T	c.(1243-1245)aCc>aTc	p.T415I				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCCTACGAGACCCACGGCCTT	0.607000														26			12		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286946	152286946	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152286946C>T	uc001ezu.1	-	2	452	c.416G>A	c.(415-417)gGa>gAa	p.G139E	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	139					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGGATCTTCCCTTATTCCC	0.353000									Ichthyosis					133			35		0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15185362	15185362	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:15185362G>A	uc003zlr.2	-	15	1567	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	TTC39B_uc003zlq.2_Silent_p.I413I|TTC39B_uc011lmp.2_Silent_p.I345I|TTC39B_uc010mie.2_Silent_p.I508I|TTC39B_uc011lmr.2_Silent_p.I441I|TTC39B_uc011lmq.2_Silent_p.I497I|TTC39B_uc003zlp.2_Silent_p.I27I	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	444							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TCTCAGTAGGGATAGATTTCC	0.502000														73			34		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386606	56386606	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56386606C>T	uc002ivx.4	-	21	4898	c.4027G>A	c.(4027-4029)Gag>Aag	p.E1343K	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.E1283K|BZRAP1_uc010wnt.2_Missense_Mutation_p.E1343K	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1343	Poly-Glu.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					tcctcctcctcgtcctcctct	0.607000														39			18		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	136793	136793	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000209.1:136793G>A	uc002quo.2	+	3	599	c.580G>A	c.(580-582)Gga>Aga	p.G194R	KIR2DL2_uc021vdc.1_Missense_Mutation_p.G194R|KIR2DL2_uc021vdd.1_Missense_Mutation_p.G194R|KIR2DL2_uc010evk.1_Missense_Mutation_p.G94R|KIR2DL2_uc010evl.1_Intron|KIR2DL2_uc002qun.2_Missense_Mutation_p.G194R	NM_012312	NP_036444	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 (KIR2DS2), mRNA.	194	Ig-like C2-type 2.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										CACCCACGGAGGAACCTACAG	0.572000														39			60		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961675	34961675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:34961675C>T	uc004ddi.2	+	0	763	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	243	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCCAGAGACTCGCGCATCTCA	0.647000														58			7		0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12903528	12903528	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:12903528G>A	uc002gnz.4	-	14	1485	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F	ELAC2_uc002gnu.4_5'UTR|ELAC2_uc002gnv.4_Silent_p.F84F|ELAC2_uc002gnx.4_Silent_p.F216F|ELAC2_uc010vvo.2_Silent_p.F254F|ELAC2_uc010vvp.2_Silent_p.F437F|ELAC2_uc010vvq.2_Silent_p.F455F|ELAC2_uc010vvr.2_Silent_p.F416F	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	456					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CGCTCTGCTGGAAGTTGGGAA	0.577000														29			15		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657830	72657830	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:72657830G>A	uc003txs.1	-	12	2082	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		gacgatttgggagtgtccttg	0.507000														189			70		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106917017	106917017	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106917017G>A	uc001kyi.1	+	9	1831	c.1604G>A	c.(1603-1605)aGa>aAa	p.R535K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	535						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGGACCTGAGAGGAAGCCCA	0.557000														43			8		0	0	1	0	0
MRRF	92399	broad.mit.edu	37	9	125042722	125042722	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125042722C>T	uc010mwa.3	+	3	549	c.185_splice	c.e3-1	p.A62_splice	MRRF_uc011lyq.2_Splice_Site_p.A83_splice|MRRF_uc010mvz.2_Splice_Site|MRRF_uc011lyr.2_Intron|MRRF_uc004bme.3_Splice_Site|MRRF_uc022bmy.1_Splice_Site_p.A62_splice	NM_138777	NP_620132	Q96E11	RRFM_HUMAN	Homo sapiens mitochondrial ribosome recycling factor (MRRF), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	62					ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						CACTTTTTAGCCAAAGGGAAA	0.383000														58			18		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11684402	11684402	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11684402C>T	uc002gne.3	+	38	7697	c.7629C>T	c.(7627-7629)ttC>ttT	p.F2543F	DNAH9_uc010coo.3_Silent_p.F1837F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2543	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCATCTATTTCATTGATGACA	0.557000														26			13		0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479935	4479935	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4479935C>T	uc001qmq.1	-	2	476	c.330G>A	c.(328-330)ccG>ccA	p.P110P		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	110					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.P110P(2)|p.D109E(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGCAGTTCTCCGGGTCGAAAT	0.607000														85			15		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759246	121759246	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:121759246G>A	uc003ksw.1	+	3	1020	c.814G>A	c.(814-816)Gag>Aag	p.E272K	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.E272K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.E319K|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.E272K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	272					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCGAAAAGTTGAGAAGACAAC	0.488000														40			15		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72324887	72324887	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72324887G>A	uc002atl.4	-	2	1356	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	MYO9A_uc010biq.3_5'UTR|MYO9A_uc002ato.3_Missense_Mutation_p.R295C|MYO9A_uc002atn.1_Missense_Mutation_p.R295C	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	295	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTCCCAAAACGACTTGAATTG	0.333000														78			12		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935684	30935684	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:30935684C>T	uc002nsu.1	+	1	1353	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S	ZNF536_uc010edd.1_Silent_p.S405S	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.S405F(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGAACAAGTCCCCCAGCGACC	0.622000														57			6		0	0	1	0	0
C9orf152	401546	broad.mit.edu	37	9	112963511	112963511	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:112963511C>T	uc011lwk.2	-	1	991	c.437G>A	c.(436-438)gGa>gAa	p.G146E	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	146										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TTGATCAGATCCCACAAGCTT	0.532000														173			69		0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158724951	158724951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158724951G>A	uc001fsw.1	+	0	346	c.346G>A	c.(346-348)Gag>Aag	p.E116K		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTAATCAGTGAGCAGAAGAG	0.498000														121			51		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81697726	81697726	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81697726C>T	uc001kbh.3	-	7	1053	c.1010G>A	c.(1009-1011)tGg>tAg	p.W337*		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	337	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding	p.N336Y(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCCTGGGGCCCAGTTGGAATA	0.547000														212			75		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16032714	16032714	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:16032714G>A	uc010lsu.3	-	2	317	c.253C>T	c.(253-255)Ctc>Ttc	p.L85F	MSR1_uc003wwz.3_Missense_Mutation_p.L67F|MSR1_uc003wxa.3_Missense_Mutation_p.L67F|MSR1_uc003wxb.3_Missense_Mutation_p.L67F|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	67	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTCCAATGAGAGGGATGAGA	0.418000														81			7		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23826227	23826227	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:23826227C>T	uc003sws.4	+	18	2442	c.2375C>T	c.(2374-2376)cCa>cTa	p.P792L	STK31_uc003swt.4_Missense_Mutation_p.P769L|STK31_uc011jze.2_Missense_Mutation_p.P792L|STK31_uc010kuq.3_Missense_Mutation_p.P769L|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	792	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGGTTACTGCCATTGATATTC	0.378000														81			25		0	0	1	0	0
C14orf135	64430	broad.mit.edu	37	14	60592362	60592362	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:60592362C>T	uc001xer.4	+	8	2908	c.2386C>T	c.(2386-2388)Ctg>Ttg	p.L796L	C14orf135_uc001xeq.2_Silent_p.L796L|C14orf135_uc010apm.3_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	1030						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		TAGGTATACTCTGAAACTAAT	0.294000														4			5		0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76826243	76826243	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:76826243C>T	uc003ugb.3	-	1	713	c.673G>A	c.(673-675)Gag>Aag	p.E225K	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	225	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CTGTAGGTCTCACTGCTTCTT	0.428000														133			43		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22892266	22892266	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22892266C>T	uc002zwf.3	-	3	991	c.835G>A	c.(835-837)Gag>Aag	p.E279K	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.E263K|PRAME_uc010gtr.3_Missense_Mutation_p.E279K|PRAME_uc002zwg.3_Missense_Mutation_p.E279K|PRAME_uc002zwh.3_Missense_Mutation_p.E279K|PRAME_uc002zwi.3_Missense_Mutation_p.E279K|PRAME_uc002zwj.3_Missense_Mutation_p.E279K|PRAME_uc002zwk.3_Missense_Mutation_p.E279K	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	279					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TCTTCCTTCTCCGGGGAAATG	0.507000														81			34		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71054852	71054852	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:71054852T>A	uc001swi.2	-	11	2048	c.1634A>T	c.(1633-1635)aAg>aTg	p.K545M	PTPRR_uc001swf.2_Non-coding_Transcript|PTPRR_uc001swg.2_Non-coding_Transcript|PTPRR_uc001swh.2_Missense_Mutation_p.K300M|PTPRR_uc009zrs.3_Missense_Mutation_p.K339M|PTPRR_uc010stq.2_Missense_Mutation_p.K433M|PTPRR_uc010str.1_3'UTR	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	545	Tyrosine-protein phosphatase.				in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CCAGTAATGCTTCACATGTTG	0.473000														21			10		0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096514	73096514	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73096514C>T	uc002jmr.3	+	4	1128	c.756C>T	c.(754-756)ttC>ttT	p.F252F	SLC16A5_uc002jmt.3_Silent_p.F252F|SLC16A5_uc002jmu.3_Silent_p.F252F|SLC16A5_uc010wrt.2_Silent_p.F292F	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	252					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.F252L(3)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TCCTGGGCTTCCCACTGCCAC	0.607000														46			11		0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107601054	107601054	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107601054G>A	uc003vev.2	-	15	2383	c.2222C>T	c.(2221-2223)aCc>aTc	p.T741I	LAMB1_uc003vew.2_Missense_Mutation_p.T717I|LAMB1_uc003vex.3_Missense_Mutation_p.T717I	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	717	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTCCCACGGTGAAGATGTC	0.493000														59			17		0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138191536	138191536	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:138191536C>T	uc003esk.3	+	17	2298	c.2072C>T	c.(2071-2073)aCt>aTt	p.T691I	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	691						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ATCTTCCTGACTGTCCCAGGT	0.602000														105			38		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417157	150417157	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150417157C>T	uc003whq.3	+	2	205	c.65C>T	c.(64-66)tCc>tTc	p.S22F	GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.S22F	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.									p.S22Y(1)									AACGCTCAGTCCCGGCAGGAG	0.527000														289			96		0	0	1	0	0
LRRC3	81543	broad.mit.edu	37	21	45877193	45877193	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45877193C>T	uc021wjs.1	+	0	666	c.666C>T	c.(664-666)gtC>gtT	p.V222V	LRRC3_uc002zfa.3_Silent_p.V222V	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	222						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCGCCTACGTCGTGTACTATG	0.657000														80			32		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170819401	170819401	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:170819401C>T	uc003fhh.2	-	21	2773	c.2428G>A	c.(2428-2430)Gaa>Aaa	p.E810K	TNIK_uc003fhi.2_Missense_Mutation_p.E755K|TNIK_uc003fhj.2_Missense_Mutation_p.E781K|TNIK_uc003fhk.2_Missense_Mutation_p.E802K|TNIK_uc003fhl.2_Missense_Mutation_p.E726K|TNIK_uc003fhm.2_Missense_Mutation_p.E747K|TNIK_uc003fhn.2_Missense_Mutation_p.E773K|TNIK_uc003fho.2_Missense_Mutation_p.E718K|TNIK_uc003fhg.2_5'UTR	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	810	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCTCTTAGTTCTTTGGCTAAT	0.453000														66			25		0	0	1	0	0
HP	3240	broad.mit.edu	37	16	72094210	72094210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:72094210G>A	uc002fbr.4	+	6	686	c.642G>A	c.(640-642)gcG>gcA	p.A214A	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.3_Silent_p.A155A|HP_uc021tld.1_Silent_p.A155A|HP_uc002fbt.4_Silent_p.A155A|HPR_uc002fby.3_5'Flank	NM_005143	NP_005134	P00738	HPT_HUMAN	Homo sapiens haptoglobin (HP), transcript variant 1, mRNA.	214	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		ATGCAACAGCGAAAGACATTG	0.453000														50			23		0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46620486	46620486	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:46620486C>T	uc002inm.3	-	1	1135	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	339					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TCCAGCTCTTCCTCGGAAAAA	0.597000														76			39		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208270	58208270	+	Silent	SNP	G	A	A	rs151242806	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:58208270G>A	uc001vhq.1	+	0	2482	c.1590G>A	c.(1588-1590)acG>acA	p.T530T	PCDH17_uc010aec.1_Silent_p.T530T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	530	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGAATCCCACGAACGGGGCCA	0.587000														66			16		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130292924	130292924	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130292924C>T	uc010htl.3	+	6	3133	c.3102C>T	c.(3100-3102)ctC>ctT	p.L1034L		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1034	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATGTCAGCCTCAACAGAGTGC	0.418000														33			12		0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102611376	102611376	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:102611376G>A	uc010mbu.3	+	7	1425	c.1095G>A	c.(1093-1095)gcG>gcA	p.A365A		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	365						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ATGAAGAGGCGAAGGTGAGTG	0.378000														26			15		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34003736	34003736	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:34003736C>T	uc003oir.4	-	7	2514	c.2151G>A	c.(2149-2151)tgG>tgA	p.W717*	GRM4_uc011dsn.2_Nonsense_Mutation_p.W670*|GRM4_uc010jvh.3_Nonsense_Mutation_p.W717*|GRM4_uc010jvi.3_Nonsense_Mutation_p.W409*|GRM4_uc003oio.3_Nonsense_Mutation_p.W409*|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Nonsense_Mutation_p.W577*|GRM4_uc003oiq.3_Nonsense_Mutation_p.W584*|GRM4_uc011dsm.2_Nonsense_Mutation_p.W548*	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	717					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CCACCACAAACCACACACAGA	0.642000														109			18		0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81053203	81053203	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81053203C>T	uc001kaf.2	+	11	1595	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S	ZMIZ1_uc001kag.2_Silent_p.S217S|ZMIZ1_uc001kah.1_Silent_p.S223S	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	341	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GGCCTGCCTCCATGGGGGGCA	0.667000														156			30		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54903692	54903692	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54903692G>A	uc001sgc.4	+	6	737	c.658G>A	c.(658-660)Gag>Aag	p.E220K	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.E170K	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	220					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCAGGGGGCTGAGCAGTGGCG	0.507000														131			69		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189856244	189856244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189856244C>T	uc002uqj.1	+	11	1001	c.884C>T	c.(883-885)gCt>gTt	p.A295V	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	295	Triple-helical region.			NGA -> DGS (in Ref. 9; AA sequence).	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G294E(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GAAAATGGAGCTCCTGGACCC	0.318000														49			21		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	174096	174096	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:174096C>T	uc003jak.2	+	15	3267	c.3217C>T	c.(3217-3219)Cgc>Tgc	p.R1073C		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	1073	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GATTTGGTTTCGCAGGCGGCG	0.562000														12			5		0	0	1	0	0
CLDN14	23562	broad.mit.edu	37	21	37833526	37833526	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:37833526C>T	uc021wja.1	-	0	468	c.468G>A	c.(466-468)atG>atA	p.M156I	CLDN14_uc002yvn.1_Missense_Mutation_p.M156I|CLDN14_uc002yvo.1_Missense_Mutation_p.M156I|CLDN14_uc002yvk.1_Missense_Mutation_p.M156I|CLDN14_uc002yvl.1_Missense_Mutation_p.M156I|CLDN14_uc002yvm.1_Missense_Mutation_p.M156I	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	156					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TCTCAAACTTCATGCCGCTGG	0.622000														64			28		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69816835	69816835	+	Missense_Mutation	SNP	G	A	A	rs138523993		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69816835G>A	uc003hef.2	-	0	675	c.644C>T	c.(643-645)tCa>tTa	p.S215L	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	215						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAACAAAACTGAAAGCATTGA	0.358000														47			9		0	0	1	0	0
ESAM	90952	broad.mit.edu	37	11	124623552	124623552	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124623552G>A	uc001qav.4	-	6	1336	c.1163C>T	c.(1162-1164)tCt>tTt	p.S388F	VSIG2_uc001qas.3_5'Flank|VSIG2_uc001qat.3_5'Flank|ESAM_uc010sao.2_Intron|ESAM_uc001qau.4_Missense_Mutation_p.S315F|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Non-coding_Transcript	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	388					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	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;0.022)		TCATACCAGAGAGCCAGCTTG	0.557000														49			27		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15688980	15688980	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15688980C>T	uc001ioc.1	-	11	1072	c.1072G>A	c.(1072-1074)Ggg>Agg	p.G358R	ITGA8_uc010qcb.1_Missense_Mutation_p.G343R	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	358					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TAGATTTGCCCTACTTCTCTG	0.507000														64			21		0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000536	56000536	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56000536C>T	uc010rjc.2	-	0	126	c.126G>A	c.(124-126)atG>atA	p.M42I		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGACATTCTTCATGTTGAAAT	0.358000														61			28		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692426	135692426	+	Missense_Mutation	SNP	G	A	A	rs138178870	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:135692426G>A	uc003lbn.2	-	1	872	c.650C>T	c.(649-651)tCg>tTg	p.S217L	TRPC7_uc010jef.2_Missense_Mutation_p.S208L|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.S217L|TRPC7_uc010jei.2_Missense_Mutation_p.S217L	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	217					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.R216L(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTCATGCGCGAGCGCGAGTG	0.612000														32			14		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949866	27949866	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:27949866G>A	uc003zqv.1	-	6	1454	c.804C>T	c.(802-804)gcC>gcT	p.A268A	LINGO2_uc010mjf.1_Silent_p.A268A|LINGO2_uc003zqu.1_Silent_p.A268A|LINGO2_uc022bfc.1_Silent_p.A268A	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	268						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGTGTTTAAAGGCAAGGAAGG	0.493000														141			19		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47628967	47628967	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:47628967C>T	uc001rpq.3	+	1	646	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	FAM113B_uc001rpn.3_Missense_Mutation_p.R41C|FAM113B_uc021qxi.1_Missense_Mutation_p.R41C	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	41							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					GCAGAAGGACCGCCTGCTCAC	0.597000														37			5		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153864301	153864301	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:153864301C>T	uc003inf.2	+	0	167	c.92C>T	c.(91-93)cCt>cTt	p.P31L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	31					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CAGAcacctcctccagcacct	0.517000														62			15		0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85997276	85997276	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:85997276C>T	uc001kcz.1	-	1	311	c.289G>A	c.(289-291)Gag>Aag	p.E97K		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	97						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCGTTGAGCTCGCTGAGGGCG	0.736000														14			9		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62203493	62203493	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62203493G>A	uc002yfm.2	-	1	1138	c.246C>T	c.(244-246)ccC>ccT	p.P82P	PRIC285_uc002yfn.2_Silent_p.P82P	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	82					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			AGAGTCCCGGGGGTGGGGAAC	0.632000														15			5		0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100564756	100564756	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:100564756C>T	uc021rcm.1	-	1		c.242G>A			GOLGA2P5_uc001tgz.4_Non-coding_Transcript					Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 1, non-coding RNA.																		TGGTGGCACTCTTTCTTTTCC	0.522000														119			32		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18391011	18391011	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:18391011C>T	uc003cbh.3	-	10	3678	c.1943G>A	c.(1942-1944)cGa>cAa	p.R648Q	SATB1_uc003cbi.3_Missense_Mutation_p.R680Q|SATB1_uc003cbj.3_Missense_Mutation_p.R648Q	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	648					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						AATTTTTGTTCGTGGCCGGGT	0.587000														87			35		0	0	1	0	0
TMEM218	219854	broad.mit.edu	37	11	124967604	124967604	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124967604G>A	uc001qbs.3	-	3	898	c.246C>T	c.(244-246)gtC>gtT	p.V82V	TMEM218_uc010sax.2_Silent_p.V82V|TMEM218_uc010saw.2_Silent_p.V117V|TMEM218_uc001qbt.3_Silent_p.V117V|TMEM218_uc010say.2_Non-coding_Transcript	NM_001080546	NP_001074015	A2RU14	TM218_HUMAN	Homo sapiens transmembrane protein 218 (TMEM218), mRNA.	82						integral to membrane		p.V82V(2)		breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						AAGCCAGCAGGACATAGCGGC	0.448000														36			7		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72324234	72324234	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72324234G>A	uc001jrd.4	+	18	2658	c.2377G>A	c.(2377-2379)Gcc>Acc	p.A793T	KIAA1274_uc001jre.4_Missense_Mutation_p.A84T	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	793										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						CCTGGAGAAGGCCGACTCCTG	0.642000														134			49		0	0	1	0	0
NIM1	167359	broad.mit.edu	37	5	43246021	43246021	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:43246021C>T	uc003jno.3	+	1	1025	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA.	48							ATP binding|magnesium ion binding|protein serine/threonine kinase activity										TGACGCCCTTCGAGAAACTGA	0.582000														114			22		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62550251	62550251	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62550251G>A	uc001dab.3	+	32	4422	c.4308G>A	c.(4306-4308)atG>atA	p.M1436I	INADL_uc009waf.1_Missense_Mutation_p.M1436I|INADL_uc001daa.2_Missense_Mutation_p.M1436I|INADL_uc001dad.3_Missense_Mutation_p.M1133I|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.M220I|INADL_uc009wag.3_Missense_Mutation_p.M220I|INADL_uc010oou.1_Missense_Mutation_p.M109I	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1436					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GACAGGAAATGATTATAGAAA	0.468000														86			21		0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104235581	104235581	+	Missense_Mutation	SNP	A	C	C	rs144994591		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104235581A>C	uc001kvt.3	+	9	1613	c.1394A>C	c.(1393-1395)cAg>cCg	p.Q465P	TMEM180_uc010qql.2_Missense_Mutation_p.Q194P|TMEM180_uc010qqm.1_Intron	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	Homo sapiens transmembrane protein 180 (TMEM180), mRNA.	465						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACGCTCCGCCAGGGCTGCTTC	0.652000														37			14		0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362255	49362255	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49362255G>A	uc002pkx.3	-	7	1385	c.834C>T	c.(832-834)gtC>gtT	p.V278V	PLEKHA4_uc010eml.3_Silent_p.V278V	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	278	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GAGGAGGTCGGACATCAATGC	0.706000														30			11		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42509145	42509145	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:42509145G>A	uc003gwr.2	-	22	2206	c.1974C>T	c.(1972-1974)gcC>gcT	p.A658A	ATP8A1_uc003gwq.2_5'UTR|ATP8A1_uc003gws.2_Silent_p.A643A	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	658					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TATCCTCAATGGCTGTTGCTC	0.343000														123			40		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25308672	25308673	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:25308672_25308673GG>AA	uc003abg.2	+	22	3203_3204	c.3046_3047GG>AA	c.(3046-3048)gga>AAa	p.G1016K	SGSM1_uc010guu.1_Missense_Mutation_p.G961K|SGSM1_uc003abh.2_Missense_Mutation_p.G955K|SGSM1_uc003abj.2_Missense_Mutation_p.G900K|SGSM1_uc003abi.1_Missense_Mutation_p.G936K	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	1016	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTTCCCCCACGGAGGCGCCATG	0.510000														39			4		0	0	1	0	0
MFSD9	84804	broad.mit.edu	37	2	103335015	103335015	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103335015G>A	uc002tcb.2	-	5	1357	c.1289C>T	c.(1288-1290)tCg>tTg	p.S430L	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.S369L	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	430					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GGCAACCCCCGAGAGGAGAGG	0.637000														62			13		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46713060	46713060	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46713060C>T	uc003cqa.2	-	24	2892	c.2699G>A	c.(2698-2700)gGa>gAa	p.G900E	ALS2CL_uc003cpx.2_Missense_Mutation_p.G247E|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Missense_Mutation_p.G415E|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.G900E	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	900	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GATCTCGGCTCCCAGGTGCTG	0.617000														65			14		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059716	152059716	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152059716C>T	uc001ezo.1	-	2	507	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	148							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)			GCTCCACTTTCTTCAGGGATG	0.468000														84			36		0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25057715	25057715	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:25057715C>T	uc010ykm.2	-	8	1952	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K	ADCY3_uc002rfr.4_Missense_Mutation_p.E218K|ADCY3_uc002rfs.4_Missense_Mutation_p.E585K	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	585					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TGGTTGAGCTCGTGCTCATCT	0.662000														22			6		0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98189116	98189116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:98189116G>A	uc003dsm.3	+	0	696	c.696G>A	c.(694-696)gaG>gaA	p.E232E		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AATCCAAAGAGGGAAGGGCCA	0.343000														97			42		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14498703	14498703	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:14498703C>T	uc003jff.3	+	52	8292	c.8286C>T	c.(8284-8286)gtC>gtT	p.V2762V	TRIO_uc003jfg.3_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2762	Ig-like C2-type.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCATCGCTGTCAATGACATGG	0.587000														87			42		0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30682303	30682303	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:30682303G>A	uc003ahd.3	-	5	822	c.692C>T	c.(691-693)tCc>tTc	p.S231F	TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Intron|TBC1D10A_uc003ahi.3_Intron|TBC1D10A_uc010gvq.3_Intron|TBC1D10A_uc010gvr.3_3'UTR	NM_001037666	NP_001032755	Q9BXI6	TB10A_HUMAN	Homo sapiens GATS protein-like 3 (GATSL3), mRNA.	0	Rab-GAP TBC.					intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTCGATGAGGGAGAAGGCAAA	0.592000														49			10		0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15904925	15904925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15904925C>T	uc010xos.2	+	0	67	c.67C>T	c.(67-69)Ctc>Ttc	p.L23F		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CTTCCCCCACCTCCAGCTGAT	0.587000														178			60		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75072303	75072303	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75072303C>T	uc001dgg.3	-	9	1690	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E285K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	491	Glu-rich.									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						AAAGTATTTTCCTGGTCGTCT	0.358000														181			12		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47746586	47746586	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47746586G>A	uc003gxm.3	-	4	725	c.632C>T	c.(631-633)cCc>cTc	p.P211L	CORIN_uc011bzf.2_Missense_Mutation_p.P72L|CORIN_uc011bzg.2_Missense_Mutation_p.P144L|CORIN_uc011bzh.1_Missense_Mutation_p.P211L|CORIN_uc011bzi.1_Missense_Mutation_p.P211L|CORIN_uc003gxn.4_Missense_Mutation_p.P211L	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	211	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GGACCTACAGGGCAGGAGTCC	0.413000														126			48		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118293378	118293378	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:118293378G>A	uc001two.2	-	2	295	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	109					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCGGGGGAGATTTCCTAGA	0.602000														30			9		0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294023	124294023	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124294023G>A	uc010sak.2	-	0	745	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		CCAAAAAACAGAGCAACAGCA	0.458000														64			7		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51752006	51752006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51752006C>T	uc001ryk.2	-	7	1633	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.E470K|GALNT6_uc001ryj.1_Missense_Mutation_p.E35K	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	470					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGCAGTTGTTCCCTCAGCTGC	0.463000														111			48		0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159080	39159080	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:39159080C>T	uc003oon.3	-	4	1450	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	362					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						CTTTGCTCCTCAGTGTCTGTG	0.632000														38			13		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804695	54804695	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:54804695C>T	uc003pck.3	+	4	1042	c.926C>T	c.(925-927)tCg>tTg	p.S309L		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	309										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TACCAGCATTCGGTGTCTTCA	0.433000														95			26		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411603	51411603	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:51411603C>T	uc001nhi.2	-	0	846	c.793G>A	c.(793-795)Gat>Aat	p.D265N		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T264S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ATGAACTTATCAGTAGGAAAG	0.363000														73			21		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76569600	76569600	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:76569600G>A	uc002fex.1	+	16	3062	c.2923G>A	c.(2923-2925)Gga>Aga	p.G975R	CNTNAP4_uc002feu.1_Missense_Mutation_p.G971R|CNTNAP4_uc002fev.1_Missense_Mutation_p.G836R|CNTNAP4_uc010chb.1_Missense_Mutation_p.G899R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	972	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATGCCGCAATGGAGGGAAATG	0.502000														30			13		0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145415632	145415632	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:145415632G>A	uc001eni.2	+	2	776	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	HFE2_uc001enk.2_Missense_Mutation_p.E38K|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	151					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGACTATGAAGGCCGGTT	0.697000														35			8		0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215259778	215259778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:215259778C>T	uc001hkq.3	+	1	283	c.114C>T	c.(112-114)tcC>tcT	p.S38S	KCNK2_uc001hko.3_Silent_p.S34S|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.4_Silent_p.S23S	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	38							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TCTCGTTTTCCACGAAACCCA	0.512000														57			18		0	0	1	0	0
XAF1	54739	broad.mit.edu	37	17	6663021	6663021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:6663021C>T	uc002gdn.3	+	2	451	c.209C>T	c.(208-210)tCg>tTg	p.S70L	XAF1_uc010clr.1_Missense_Mutation_p.S70L|XAF1_uc002gdm.1_Missense_Mutation_p.S10L|XAF1_uc002gdo.3_Intron|XAF1_uc002gdp.3_Missense_Mutation_p.R48C|XAF1_uc002gdq.3_Intron|XAF1_uc002gdr.3_Intron	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN	Homo sapiens XIAP associated factor 1 (XAF1), transcript variant 1, mRNA.	70					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						CAGAAGTCCTCGCTGGAGTTT	0.517000														62			17		0	0	1	0	0
MMP7	4316	broad.mit.edu	37	11	102398304	102398304	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102398304C>T	uc001phb.3	-	2	482	c.435G>A	c.(433-435)agG>agA	p.R145R	MMP7_uc009yxd.3_Silent_p.R145R|MMP7_uc010rus.1_Silent_p.R145R	NM_002423	NP_002414	P09237	MMP7_HUMAN	Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.	145					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)		ATACAACTTTCCTGAAATGCA	0.443000														98			43		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5447853	5447853	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:5447853C>T	uc003jdm.4	+	8	749	c.527C>T	c.(526-528)tCt>tTt	p.S176F		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	176										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GACGAATTTTCTAAACAGAAA	0.303000														9			3		0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60359414	60359415	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:60359414_60359415GG>AA	uc001czq.3	-	8	1422_1423	c.1417_1418CC>TT	c.(1417-1419)ccc>TTc	p.P473F		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	473					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					ATTGTTTGGGGGCCTGAAGGTA	0.460000														315			121		0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205549071	205549071	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205549071C>T	uc001hcv.4	+	1	509	c.423C>T	c.(421-423)ttC>ttT	p.F141F	MFSD4_uc010prk.2_Silent_p.F141F|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.F86F	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	141					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CGGCCGTCTTCCTCCAGGTAA	0.672000														35			12		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20725319	20725319	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:20725319G>A	uc010kuh.3	+	16	2107	c.1870_splice	c.e16-1	p.D624_splice	ABCB5_uc003suw.4_Splice_Site_p.D179_splice	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	179	ABC transporter 2.				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						TTCCTGTAAGGATATTAAAAA	0.343000														43			15		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052906	44052906	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:44052906C>T	uc001jaw.4	-	1	1275	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	ZNF239_uc001jax.4_Missense_Mutation_p.E208K|ZNF239_uc009xmj.3_Missense_Mutation_p.E208K|ZNF239_uc009xmk.3_Missense_Mutation_p.E208K|ZNF239_uc021pph.1_Missense_Mutation_p.E208K	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGACTACATTCGTATTGTTTC	0.423000														73			27		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140729881	140729881	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140729881C>T	uc003ljo.2	+	0	54	c.54C>T	c.(52-54)ttC>ttT	p.F18F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.F18F	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	0					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)			TGTTTCCCTTCCTGCTGTCTT	0.522000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			8		0	0	1	0	0
ACTG2	72	broad.mit.edu	37	2	74141990	74141990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74141990C>T	uc002sjw.3	+	6	919	c.797C>T	c.(796-798)tCc>tTc	p.S266F	ACTG2_uc010yrn.2_Missense_Mutation_p.S223F|ACTG2_uc010fey.3_Missense_Mutation_p.S266F	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	266					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						TTCCAGCCTTCCTTTATTGGT	0.577000														61			20		0	0	1	0	0
PXMP2	5827	broad.mit.edu	37	12	133272542	133272542	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:133272542C>T	uc001ukt.3	+	2	374	c.309C>T	c.(307-309)ccC>ccT	p.P103P	PGAM5_uc010tbr.2_Intron	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN	Homo sapiens peroxisomal membrane protein 2, 22kDa (PXMP2), mRNA.	103						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CTGAGGTCCCCCTGGCAGGGC	0.572000														51			6		0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36291092	36291092	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36291092G>C	uc002obx.1	-	10	1477	c.1459C>G	c.(1459-1461)Ccc>Gcc	p.P487A	AK055260_uc002obw.1_5'Flank	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	487					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGCCATAGGGAATGGACTTA	0.557000														8			4		0	0	1	0	0
ATG4B	23192	broad.mit.edu	37	2	242598552	242598552	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242598552C>T	uc002wbv.3	+	6	591	c.488C>T	c.(487-489)tCc>tTc	p.S163F	ATG4B_uc002wbu.3_Missense_Mutation_p.S89F|ATG4B_uc002wbw.3_Missense_Mutation_p.S163F|ATG4B_uc010zox.2_Missense_Mutation_p.S149F|ATG4B_uc010zoy.2_Missense_Mutation_p.S89F|ATG4B_uc010fzp.3_Missense_Mutation_p.S163F|ATG4B_uc010zoz.2_Missense_Mutation_p.S89F	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog B (S. cerevisiae) (ATG4B), transcript variant 1, mRNA.	163					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		ACGTGGAGCTCCTTGGCGGTC	0.453000														24			12		0	0	1	0	0
NR1I3	9970	broad.mit.edu	37	1	161205715	161205715	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161205715C>T	uc001fzx.3	-	2	363	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Missense_Mutation_p.E54K|NR1I3_uc001fzm.3_5'UTR|NR1I3_uc001fzn.3_5'UTR|NR1I3_uc001fzf.3_Missense_Mutation_p.E54K|NR1I3_uc009wug.3_5'UTR|NR1I3_uc001fzo.3_5'UTR|NR1I3_uc001fzt.3_5'UTR|NR1I3_uc001fzs.3_5'UTR|NR1I3_uc001fzr.3_Missense_Mutation_p.E54K|NR1I3_uc001fzq.3_Missense_Mutation_p.E54K|NR1I3_uc001fzv.3_Missense_Mutation_p.E25K|NR1I3_uc001fzu.3_Missense_Mutation_p.E25K|NR1I3_uc001fzy.3_Missense_Mutation_p.E54K|NR1I3_uc001fzw.3_Missense_Mutation_p.E54K|NR1I3_uc001fzz.3_Missense_Mutation_p.E54K|NR1I3_uc001fzh.3_Missense_Mutation_p.E25K|NR1I3_uc001gab.3_Missense_Mutation_p.E54K|NR1I3_uc001gac.3_Missense_Mutation_p.E25K|NR1I3_uc001fzp.3_Missense_Mutation_p.E54K|NR1I3_uc001fzg.3_Missense_Mutation_p.E25K|NR1I3_uc001gaa.3_Missense_Mutation_p.E54K|NR1I3_uc001fzj.3_Missense_Mutation_p.E25K|NR1I3_uc001fzi.3_Missense_Mutation_p.E25K|NR1I3_uc001fzl.3_Missense_Mutation_p.E25K|NR1I3_uc001fzk.3_Missense_Mutation_p.E25K|NR1I3_uc010pkm.2_Missense_Mutation_p.E25K|NR1I3_uc010pkn.1_Missense_Mutation_p.E54K	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.	54					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TTGCTGACTTCACAGCTTCCA	0.532000														65			14		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151156198	151156198	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151156198G>A	uc011bod.2	-	5	6151	c.6151C>T	c.(6151-6153)Ctc>Ttc	p.L2051F	IGSF10_uc011bob.2_Missense_Mutation_p.L78F|IGSF10_uc011boc.2_Missense_Mutation_p.L30F	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2051	Ig-like C2-type 7.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCCCATGGAGCACTTGCTTT	0.438000														125			41		0	0	1	0	0
TPTEP1	387590	broad.mit.edu	37	22	17119552	17119552	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17119552C>T	uc002zls.1	+	1		c.389C>T			TPTEP1_uc002zlr.3_Non-coding_Transcript|TPTEP1_uc002zlt.3_Non-coding_Transcript					Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		CTTTATATTCCTTCGGAGTAT	0.348000														80			24		0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71604216	71604216	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71604216G>A	uc002fap.2	-	8	1096	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	333					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CCCGGGGTGCGACATAGGATG	0.547000														52			22		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166900351	166900351	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166900351T>A	uc002udo.4	-	12	2098	c.1871A>T	c.(1870-1872)cAg>cTg	p.Q624L	SCN1A_uc010fpk.3_Missense_Mutation_p.Q624L|SCN1A_uc021vsb.1_Missense_Mutation_p.Q624L	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	624						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCTACTGGTCTGACTCAGGTT	0.537000														70			19		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70017033	70017033	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70017033C>T	uc001opj.3	+	21	2543	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc010rqk.2_Silent_p.F455F|ANO1_uc010rql.1_5'UTR	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	746					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TCGCCTCCTTCCCCCTGGCCC	0.587000														18			6		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129905716	129905716	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:129905716G>A	uc001lke.3	-	12	4583	c.4388C>T	c.(4387-4389)cCc>cTc	p.P1463L	MKI67_uc001lkf.3_Missense_Mutation_p.P1103L|MKI67_uc009yav.1_Missense_Mutation_p.P1038L|MKI67_uc009yaw.1_Missense_Mutation_p.P613L	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1463	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)				GTCTTCTAGGGGTTGGGCCTT	0.493000														256			65		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187206877	187206877	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187206877C>T	uc003iza.1	+	11	1723	c.1390C>T	c.(1390-1392)Caa>Taa	p.Q464*		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	464	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CTTTGGGGTTCAAGAAATAAT	0.378000														92			56		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377329	77377329	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77377329C>T	uc004ajl.1	-	25	4496	c.4258G>A	c.(4258-4260)Gca>Aca	p.A1420T	TRPM6_uc004ajk.1_Missense_Mutation_p.A1415T|TRPM6_uc022bib.1_Missense_Mutation_p.A1415T|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.A376T	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1420					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACTTGCTCTGCCTTGTCTTGT	0.512000														63			27		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110439312	110439312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110439312G>A	uc003yne.3	+	24	3031	c.2927G>A	c.(2926-2928)cGa>cAa	p.R976Q		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	976					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TCAGTTACACGAGAGGGAACC	0.542000										HNSCC(38;0.096)				62			11		0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90651116	90651116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:90651116G>A	uc001xye.1	+	1	1438	c.996G>A	c.(994-996)gtG>gtA	p.V332V		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	332						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.G331V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CAGACGGGGTGGCAGAGAGTG	0.617000														70			36		0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105218356	105218356	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105218356G>A	uc001kxe.2	-	0	293	c.153C>T	c.(151-153)gcC>gcT	p.A51A		NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	Homo sapiens calcium homeostasis modulator 1 (CALHM1), mRNA.	51						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CCGCGCTGTAGGCTGCATTGT	0.612000														74			22		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39927939	39927939	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39927939C>T	uc002hxq.2	-	1	445	c.168G>A	c.(166-168)aaG>aaA	p.K56K	JUP_uc010wfs.2_Silent_p.K56K|JUP_uc002hxr.2_Silent_p.K56K|JUP_uc002hxs.2_Silent_p.K56K	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	56					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGGTGGTTTTCTTGAGCGTGT	0.637000														33			33		0	0	1	0	0
AKR7L	246181	broad.mit.edu	37	1	19595801	19595801	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:19595801G>A	uc021ohn.1	-	4	669	c.159C>T	c.(157-159)ttC>ttT	p.F53F	AKR7L_uc021oho.1_Intron					Homo sapiens aldo-keto reductase family 7-like (AKR7L), transcript variant 1, non-coding RNA.											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GAGTCCCAAAGAAGCGGCCCA	0.592000														84			26		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301413	11301413	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:11301413C>T	uc010hdr.3	+	1	1032	c.690C>T	c.(688-690)tcC>tcT	p.S230S	HRH1_uc010hds.3_Silent_p.S230S|HRH1_uc010hdt.3_Silent_p.S230S|HRH1_uc003bwb.4_Silent_p.S230S|HRH1_uc021wtb.1_Silent_p.S230S	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	230					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCAATAGGTCCCTCCCTTCCT	0.537000														61			32		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074222	9074222	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9074222G>A	uc002mkp.3	-	2	13428	c.13224C>T	c.(13222-13224)acC>acT	p.T4408T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4410	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						AGTAAGGCATGGTTGATGTGT	0.473000														136			38		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215263	140215263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140215263C>T	uc003lhq.2	+	0	1295	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	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_uc011dac.2_Missense_Mutation_p.S432L	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	446	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)			GACGGGGGCTCGCCTTCTCTG	0.622000														142			54		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372173	126372173	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126372173C>T	uc003ifj.4	+	8	10002	c.10002C>T	c.(10000-10002)caC>caT	p.H3334H	FAT4_uc011cgp.2_Silent_p.H1632H|FAT4_uc003ifi.1_Silent_p.H812H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3334	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGGAGGTACACTATTTGATTT	0.378000														142			28		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71575494	71575494	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:71575494C>T	uc001xmo.2	+	33	6921	c.6475C>T	c.(6475-6477)Cga>Tga	p.R2159*	PCNX_uc010are.1_Nonsense_Mutation_p.R2048*|PCNX_uc010arf.1_Nonsense_Mutation_p.R947*|PCNX_uc001xmp.2_Nonsense_Mutation_p.R243*	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	2159	Ser-rich.					integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GATATCGCTTCGAAACTTGCC	0.562000														65			10		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280694	152280694	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152280694G>A	uc001ezu.1	-	2	6704	c.6668C>T	c.(6667-6669)tCa>tTa	p.S2223L		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2223	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCACCAGTGAGTGTCTAGA	0.542000									Ichthyosis					266			122		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156741403	156741403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156741403G>A	uc021ygm.1	+	11	1297	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	CYFIP2_uc011ddn.2_Missense_Mutation_p.E362K|CYFIP2_uc011ddo.2_Missense_Mutation_p.E192K|CYFIP2_uc021ygn.1_Missense_Mutation_p.E387K|CYFIP2_uc021ygo.1_Missense_Mutation_p.E387K|CYFIP2_uc003lwt.3_Missense_Mutation_p.E266K|CYFIP2_uc011ddp.2_Missense_Mutation_p.E122K	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	388					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGAGTATCGCGAGCTCTTCGA	0.587000														67			29		0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120301848	120301848	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:120301848G>A	uc001eid.3	-	3	831	c.743C>T	c.(742-744)tCg>tTg	p.S248L	HMGCS2_uc010oxj.2_Missense_Mutation_p.S206L|HMGCS2_uc021osw.1_Missense_Mutation_p.S14L|HMGCS2_uc021osx.1_Intron	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	248					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TGGGTACTCCGAGGCCAAATT	0.468000														69			36		0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35846306	35846306	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35846306G>A	uc003zyo.3	+	7	1713	c.425G>A	c.(424-426)aGg>aAg	p.R142K	TMEM8B_uc003zyk.3_Missense_Mutation_p.R142K|TMEM8B_uc003zym.3_Missense_Mutation_p.R142K|TMEM8B_uc003zyn.3_Silent_p.Q37Q	NM_001042590	NP_001036055	A6NDV4	TMM8B_HUMAN	Homo sapiens transmembrane protein 8B (TMEM8B), transcript variant 1, mRNA.	142					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						AGGGTTGCCAGGCTGCGAATC	0.687000														69			10		0	0	1	0	0
LOC440518	440518	broad.mit.edu	37	19	22783059	22783059	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22783059G>A	uc002nqu.4	+	4		c.566G>A								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		GGAGGAGCTGGAGAGTCTGGC	0.632000														8			3		0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36110939	36110939	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36110939C>T	uc002oam.1	+	15	1483	c.1432C>T	c.(1432-1434)Cca>Tca	p.P478S		NM_015302	NP_056117	O94927	HAUS5_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA.	478					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CACGGTCCTCCCATCCATCCA	0.672000														215			86		0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15497228	15497228	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:15497228C>T	uc003nbj.3	+	6	2016	c.1772C>T	c.(1771-1773)cCc>cTc	p.P591L	JARID2_uc011diu.1_Missense_Mutation_p.P455L|JARID2_uc011div.2_Missense_Mutation_p.P419L|JARID2_uc011diw.1_Missense_Mutation_p.P553L	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	591	JmjN.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGGGTGATCCCCCCTCCGGAC	0.642000														26			4		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386636	56386636	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56386636G>A	uc002ivx.4	-	21	4868	c.3997C>T	c.(3997-3999)Ccg>Tcg	p.P1333S	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.P1273S|BZRAP1_uc010wnt.2_Missense_Mutation_p.P1333S	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1333						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					tcctcctccGGGATGCTAAAG	0.597000														46			16		0	0	1	0	0
OR3A2	4995	broad.mit.edu	37	17	3181574	3181574	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3181574G>A	uc002fvg.3	-	0	695	c.656C>T	c.(655-657)cCt>cTt	p.P219L		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	219					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GAGAACCAAAGGTGTGCCTGC	0.557000														53			11		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244352	56244352	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56244352T>C	uc002qly.3	-	1	873	c.845A>G	c.(844-846)aAa>aGa	p.K282R		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	282	NACHT.					cytoplasm	ATP binding	p.Q281Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAAATAGTGTTTTTGCATAGC	0.403000														71			28		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	48098736	48098736	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:48098736G>A	uc002xur.1	-	0	448	c.282C>T	c.(280-282)tcC>tcT	p.S94S	KCNB1_uc002xus.1_Silent_p.S94S	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	94					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGTTGAGGATGGAGGTGAAGG	0.597000														52			12		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56137941	56137941	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:56137941C>T	uc002xyn.4	+	3	759	c.596C>T	c.(595-597)cCt>cTt	p.P199L	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	199					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GTGGGGTGCCCTCTGCCTTTA	0.527000														50			5		0	0	1	0	0
GPR31	2853	broad.mit.edu	37	6	167570885	167570885	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:167570885G>A	uc011egq.2	-	0	435	c.435C>T	c.(433-435)ctC>ctT	p.L145L		NM_005299	NP_005290	O00270	GPR31_HUMAN	Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA.	145						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		CCGGGCAGGTGAGGGCGACCA	0.647000														42			25		0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233245010	233245010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233245010G>A	uc002vsq.3	+	5	937	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	258						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCTGGTGCAGGAATGGCTGGC	0.647000														97			31		0	0	1	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261824	23261824	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:23261824G>A	uc001yvh.1	+	10	1235	c.693G>A	c.(691-693)agG>agA	p.R231R	DQ582939_uc021sfm.1_5'Flank|DQ578838_uc021sfn.1_5'Flank|DQ588973_uc001yvl.3_5'Flank					Homo sapiens golgin A8 family, member I, pseudogene (GOLGA8IP), non-coding RNA.											endometrium(1)|lung(2)|prostate(1)	4						AGCACCTGAGGAAGGAACTAG	0.577000														92			18		0	0	1	0	0
RGS4	5999	broad.mit.edu	37	1	163042253	163042253	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:163042253C>T	uc001gcl.4	+	2	733	c.404C>T	c.(403-405)tCc>tTc	p.S135F	RGS4_uc009wuy.3_Missense_Mutation_p.S38F|RGS4_uc009wuz.3_Missense_Mutation_p.S38F|RGS4_uc009wva.3_Missense_Mutation_p.S20F	NM_001102445	NP_001106851	P49798	RGS4_HUMAN	Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA.	38	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity	p.E135K(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						CACAATTCTTCCCACAACAAG	0.383000														64			29		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34090712	34090712	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34090712G>A	uc001bxm.1	-	33	5616	c.5439C>T	c.(5437-5439)atC>atT	p.I1813I	CSMD2_uc001bxn.1_Silent_p.I1773I|CSMD2_uc001bxo.1_Silent_p.I686I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1773	CUB 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAGGCACTCGATCTCTGGCG	0.657000														66			27		0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487739	248487739	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248487739G>A	uc010pzk.2	-	0	132	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I44L(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			GGAGAACCATGATGGAGTTTC	0.532000														324			113		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79392661	79392661	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:79392661G>A	uc001diq.4	-	7	1149	c.993C>T	c.(991-993)gtC>gtT	p.V331V		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	331					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTGAAGATATGACTCTTTCCT	0.318000														71			25		0	0	1	0	0
C6orf89	221477	broad.mit.edu	37	6	36882161	36882161	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:36882161C>T	uc003omw.3	+	3	689	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	C6orf89_uc003omv.3_Silent_p.L63L|C6orf89_uc003omx.3_Silent_p.L169L|C6orf89_uc011dtr.2_Silent_p.L63L	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	169						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						GGTGATGCTCCTGGAAGACGC	0.542000														60			19		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100386959	100386959	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100386959G>A	uc003uwj.3	+	39	7509	c.7344G>A	c.(7342-7344)agG>agA	p.R2448R	ZAN_uc003uwk.3_Silent_p.R2448R|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.R499R	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2449	VWFD 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTGGTGGAAGGAAAAATGCAG	0.537000														65			35		0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6930397	6930397	+	Silent	SNP	G	A	A	rs117980493	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:6930397G>A	uc010clt.1	+	7	1376	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K	BCL6B_uc002geg.2_Silent_p.K438K	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	438						nucleus	zinc ion binding			skin(1)	1						CCGGAGAGAAGCCTTACCACG	0.632000														43			15		0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923308	43923308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:43923308C>T	uc010wka.2	+	0	1053	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	346						integral to membrane	aspartic-type endopeptidase activity										CAATGAGGACCGCTGGGCGTG	0.637000														23			17		0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68842665	68842665	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:68842665C>T	uc002ewg.1	+	4	725	c.601C>T	c.(601-603)Cct>Tct	p.P201S	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Missense_Mutation_p.P201S	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	201	Cadherin 1.				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.?(2)|p.P201fs*14(1)|p.201fs*14(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)		TGACACACCCCCTGTTGGTGT	0.413000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer					49			16		0	0	1	0	0
PLD4	122618	broad.mit.edu	37	14	105398476	105398476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105398476G>A	uc010tyl.1	+	8	1365	c.1207G>A	c.(1207-1209)Gcg>Acg	p.A403T	PLD4_uc001ypu.1_Missense_Mutation_p.A396T	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	Homo sapiens phospholipase D family, member 4 (PLD4), mRNA.	396					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	GTCCCTGCAGGCGCTCAGCAA	0.731000														22			7		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15580433	15580433	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15580433G>A	uc002nbg.3	-	3	1784	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C	PGLYRP2_uc002nbf.4_Intron	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	0					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TGCAGGCTGCGAAGACTCACC	0.716000														2			13		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30795606	30795606	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:30795606C>T	uc010xbr.1	-	17	2128	c.1986G>A	c.(1984-1986)atG>atA	p.M662I	C18orf34_uc010dme.1_Missense_Mutation_p.M176I|C18orf34_uc002kxn.2_Missense_Mutation_p.M662I|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.M624I|C18orf34_uc002kxp.3_Missense_Mutation_p.M662I	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	662								p.M624I(1)|p.M662I(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						CATAAAAAATCATTGTCTTAC	0.254000														33			4		0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17422449	17422449	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17422449C>T	uc001baf.3	-	3	448	c.366G>A	c.(364-366)gtG>gtA	p.V122V	PADI2_uc010ocm.2_Silent_p.V122V|PADI2_uc001bag.1_Silent_p.V122V	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	122					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.V122L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GGTCTGCGTCCACATCCAGGG	0.602000														109			50		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141497486	141497486	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:141497486G>A	uc011bnd.2	+	0	444	c.360G>A	c.(358-360)ggG>ggA	p.G120G		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	120	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTGCCCCGGGGAACCCGCAAC	0.672000														33			9		0	0	1	0	0
TMEM48	55706	broad.mit.edu	37	1	54262797	54262797	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:54262797G>A	uc001cvs.3	-	11	1534	c.1243C>T	c.(1243-1245)Cca>Tca	p.P415S	TMEM48_uc010onu.2_Missense_Mutation_p.P375S|TMEM48_uc001cvt.3_Missense_Mutation_p.P292S|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_Missense_Mutation_p.P80S	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	415					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						CTAGATTTTGGTGTCTGAAAA	0.428000														63			32		0	0	1	0	0
SLC16A7	9194	broad.mit.edu	37	12	60165033	60165033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:60165033G>A	uc001sqs.3	+	3	550	c.251G>A	c.(250-252)gGc>gAc	p.G84D	SLC16A7_uc001sqt.3_Missense_Mutation_p.G84D|SLC16A7_uc001squ.3_Missense_Mutation_p.G84D|SLC16A7_uc009zqi.3_5'UTR|SLC16A7_uc010ssi.2_5'UTR	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	84						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	AATAAATACGGCAGCCGGCCG	0.443000														188			28		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22362829	22362829	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22362829C>T	uc002nqs.1	-	2	2008	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	564					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)				CCACATTCTTCACATTTGTAG	0.378000														90			34		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71742858	71742858	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71742858G>A	uc010fen.3	+	7	1006	c.865G>A	c.(865-867)Gga>Aga	p.G289R	DYSF_uc010fei.3_Missense_Mutation_p.G288R|DYSF_uc010feh.3_Missense_Mutation_p.G257R|DYSF_uc002sig.4_Missense_Mutation_p.G257R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.G288R|DYSF_uc010fee.3_Missense_Mutation_p.G257R|DYSF_uc010fef.3_Missense_Mutation_p.G288R|DYSF_uc002sie.3_Missense_Mutation_p.G257R|DYSF_uc010feo.3_Missense_Mutation_p.G289R|DYSF_uc010fej.3_Missense_Mutation_p.G258R|DYSF_uc010fel.3_Missense_Mutation_p.G258R|DYSF_uc010fem.3_Missense_Mutation_p.G258R|DYSF_uc002sif.3_Missense_Mutation_p.G258R|DYSF_uc010fek.3_Missense_Mutation_p.G289R	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	257	C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GATCCACAAGGGAAACAGCCC	0.612000														54			17		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999572	46999572	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:46999572C>T	uc001jec.3	+	2	827	c.692C>T	c.(691-693)cCa>cTa	p.P231L	GPRIN2_uc021ppt.1_Missense_Mutation_p.P231L	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	231										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCTCTGCCCCCAGCTGCTCTA	0.627000														38			15		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129168726	129168726	+	Silent	SNP	C	T	T	rs139138308		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:129168726C>T	uc003eml.3	+	1	260	c.54C>T	c.(52-54)atC>atT	p.I18I	IFT122_uc003emm.3_Silent_p.I18I|IFT122_uc003emn.3_Silent_p.I18I|IFT122_uc003emo.3_Silent_p.I18I|IFT122_uc003emp.3_5'UTR|IFT122_uc010htc.3_Silent_p.I18I|IFT122_uc011bky.2_5'UTR|IFT122_uc011bkx.1_Silent_p.I18I	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	18					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						TAAATGACATCGCATTTAAGC	0.393000														112			40		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218616	130218616	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:130218616G>A	uc004evz.3	+	5	1110	c.765G>A	c.(763-765)ggG>ggA	p.G255G	ARHGAP36_uc004ewa.3_Silent_p.G243G|ARHGAP36_uc004ewb.3_Silent_p.G224G|ARHGAP36_uc004ewc.3_Silent_p.G119G	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	255	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.V254M(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCGCAGTGGGGATTTTTACCC	0.488000														43			47		0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50671870	50671870	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50671870G>A	uc003bkb.1	-	2	1503	c.991C>T	c.(991-993)Ctc>Ttc	p.L331F	TUBGCP6_uc010har.1_Missense_Mutation_p.L331F|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	331					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)		AGCAGCTGGAGCTCCCCTTGG	0.647000														19			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074991	9074991	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9074991G>A	uc002mkp.3	-	2	12659	c.12455C>T	c.(12454-12456)tCt>tTt	p.S4152F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4154	Ser-rich.|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						TTCTTCCACAGAGGGAGGGCT	0.498000														100			8		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220504278	220504278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220504278C>T	uc002vmo.4	+	19	3388	c.3179C>T	c.(3178-3180)tCc>tTc	p.S1060F	SLC4A3_uc002vmp.4_Missense_Mutation_p.S1033F|SLC4A3_uc010fwm.3_Missense_Mutation_p.S583F	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	1033	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCATTGGCTCCCTGGGGGGG	0.652000														81			31		0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079869	70079869	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:70079869G>A	uc003heh.3	-	0	581	c.572C>T	c.(571-573)cCt>cTt	p.P191L	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	191					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						TATGTAGGAAGGAGGGAAAAT	0.403000														114			14		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37002154	37002154	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:37002154G>A	uc002rpl.3	+	8	1048	c.746G>A	c.(745-747)aGg>aAg	p.R249K	VIT_uc002rpm.3_Missense_Mutation_p.R249K|VIT_uc010ezv.3_Intron|VIT_uc010ezw.3_Missense_Mutation_p.R249K	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	249						proteinaceous extracellular matrix		p.R249R(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GGTATCCAAAGGCAAGATCCT	0.507000														33			25		0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41476767	41476767	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:41476767C>T	uc010ucv.2	-	11	1353	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	EXD1_uc001znj.3_Missense_Mutation_p.E101K|EXD1_uc001znk.3_Missense_Mutation_p.E303K	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	303					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TGAAGCAGTTCCTCTGGCAGC	0.408000														68			32		0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149002610	149002610	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:149002610C>T	uc003ilj.4	-	8	3203	c.2840G>A	c.(2839-2841)cGa>cAa	p.R947Q	NR3C2_uc003ilk.4_Missense_Mutation_p.R830Q|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	947	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ATGGGACTCTCGGAAGGTGTA	0.602000														44			21		0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55726102	55726102	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55726102C>T	uc010spj.2	+	0	618	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						CTTTGCTGTTCACTTTGGCAT	0.368000														156			43		0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1331458	1331458	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:1331458C>T	uc004cpk.2	-	0	72	c.70G>A	c.(70-72)Gga>Aga	p.G24R	CRLF2_uc022brt.1_Missense_Mutation_p.G24R|CRLF2_uc004cpl.2_5'UTR|CRLF2_uc022brs.1_Missense_Mutation_p.G24R	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	24						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCTGCTCCTCCTTGCCCCAAA	0.488000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									34			8		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7569539	7569539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7569539C>T	uc003mxp.1	+	11	1819	c.1540C>T	c.(1540-1542)Cct>Tct	p.P514S	DSP_uc003mxq.1_Missense_Mutation_p.P514S|DSP_uc021yle.1_Missense_Mutation_p.P514S	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	514	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		GATCATCCCTCCTCCGAACCC	0.577000														96			25		0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210411339	210411339	+	Missense_Mutation	SNP	G	A	A	rs146773666		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:210411339G>A	uc001hhy.3	+	1	213	c.34G>A	c.(34-36)Gag>Aag	p.E12K	SERTAD4_uc009xcw.3_Missense_Mutation_p.E12K	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	12							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TAGATTCTGCGAGCCCATTGT	0.483000														102			38		0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44189392	44189392	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44189392C>T	uc003tkl.2	-	5	1116	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	GCK_uc003tkj.1_Missense_Mutation_p.E215K|GCK_uc003tkk.1_Missense_Mutation_p.E217K	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	216					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TGATGGTCTTCGTAGTAGCAG	0.557000														81			40		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35692526	35692526	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:35692526C>T	uc021rid.1	+	15	2692	c.2158C>T	c.(2158-2160)Cat>Tat	p.H720Y	NBEA_uc021ric.1_Missense_Mutation_p.H720Y	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	720						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)		TGAAAATATTCATGATGTGCT	0.323000														20			6		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135705	55135705	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55135705G>A	uc010rif.2	+	0	346	c.346G>A	c.(346-348)Gag>Aag	p.E116K		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTTGCTCTCTGAGAAAAAGAC	0.403000														171			84		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751770	247751770	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247751770C>T	uc010pyy.2	+	0	109	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATATTGATTCTGTATTTACT	0.398000														149			61		0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377471	125377471	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125377471C>T	uc011lyy.2	+	0	455	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CATGCTCTCTCCCACCTTCAT	0.488000														96			35		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363270	22363270	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22363270C>T	uc002nqs.1	-	2	1567	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G417*(2)		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)				GGTTTCTCTCCAGTATGAATT	0.433000														117			40		0	0	1	0	0
CST4	1472	broad.mit.edu	37	20	23667831	23667831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:23667831C>T	uc002wto.1	-	1	292	c.236G>A	c.(235-237)gGg>gAg	p.G79E		NM_001899	NP_001890	P01036	CYTS_HUMAN	Homo sapiens cystatin S (CST4), mRNA.	79						extracellular region	cysteine-type endopeptidase inhibitor activity	p.F78V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					ATTCACCCCCCCAAAGGTCTG	0.552000														186			45		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53165672	53165672	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53165672C>T	uc001sax.3	-	5	1300	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	416	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGACATTTTCAATCTCAGCC	0.552000														173			15		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8656696	8656696	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8656696G>A	uc002mkj.1	-	14	2059	c.1785C>T	c.(1783-1785)tcC>tcT	p.S595S	ADAMTS10_uc002mki.1_Missense_Mutation_p.P86L|ADAMTS10_uc002mkk.1_Silent_p.S227S	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	595	TSP type-1 1.				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						CCGTGTTGCAGGAGCGGTGCC	0.612000														105			24		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39535000	39535000	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39535000G>A	uc003xni.3	+	14	1631	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.E502K	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	526	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTCTCTGCATGAAAGATCTGA	0.308000														56			16		0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81056306	81056306	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81056306C>T	uc001kaf.2	+	12	1881	c.1309C>T	c.(1309-1311)Ccg>Tcg	p.P437S	ZMIZ1_uc001kag.2_Missense_Mutation_p.P313S|ZMIZ1_uc001kah.1_3'UTR	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	437	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCCAACCCCCCGAGGCCACT	0.627000														118			66		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736879	140736879	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140736879C>T	uc003ljq.2	+	0	2112	c.2112C>T	c.(2110-2112)ttC>ttT	p.F704F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljs.2_5'Flank|PCDHGC5_uc003ljp.1_Silent_p.F704F|PCDHGC5_uc011dar.2_5'Flank	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	705					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)			CCTGCGTCTTCCTGGCTTTTG	0.612000														51			22		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25272862	25272862	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25272862G>A	uc010aaa.3	+	11	1930	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K	ATP12A_uc001upp.3_Missense_Mutation_p.E527K	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	527					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGGGGCCCCTGAGCGCATCCT	0.562000														75			34		0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432842	111432842	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:111432842C>T	uc003dya.3	+	2	1303	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F	PLCXD2_uc003dxz.3_Missense_Mutation_p.L245F	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	245					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CAAACTAATCCTCTTCTTGGA	0.567000														72			32		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481378	142481378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142481378G>A	uc011ksq.2	+	2	535	c.452G>A	c.(451-453)gGg>gAg	p.G151E	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Splice_Site					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CTGAGCTCTGGGGGTGAGTGG	0.547000														22			4		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95090041	95090041	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:95090041G>A	uc001ydp.3	+	4	1321	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	SERPINA3_uc001ydo.4_Missense_Mutation_p.E413K|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Missense_Mutation_p.E388K|SERPINA3_uc001yds.3_Missense_Mutation_p.E388K	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	388	RCL.				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TGCATTAGTGGAGACAAGGAC	0.493000														100			37		0	0	1	0	0
ABHD12	26090	broad.mit.edu	37	20	25287509	25287509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:25287509G>A	uc002wuq.3	-	9	1189	c.910C>T	c.(910-912)Cct>Tct	p.P304S	ABHD12_uc002wus.2_Missense_Mutation_p.P304S	NM_015600	NP_056415	Q8N2K0	ABD12_HUMAN	Homo sapiens abhydrolase domain containing 12 (ABHD12), transcript variant 2, mRNA.	304						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						CTTGTAATAGGATCAAGGAAG	0.378000														52			8		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536328	69536328	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69536328C>T	uc021xow.1	-	0	167	c.9G>A	c.(7-9)ctG>ctA	p.L3L		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	3					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ACGTCCATTTCAGAGACATCC	0.398000														342			88		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140358575	140358575	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140358575G>A	uc003lii.3	+	1	3212	c.2607G>A	c.(2605-2607)ctG>ctA	p.L869L	PCDHAC2_uc003lha.2_Silent_p.L548L|PCDHAC2_uc003lhb.2_Silent_p.L812L|PCDHAC2_uc003lhd.2_Silent_p.L810L|PCDHAC2_uc003lhf.2_Silent_p.L812L|PCDHAC2_uc003lhh.1_Silent_p.L809L|PCDHAC2_uc003lhi.2_Silent_p.L809L|PCDHAC2_uc003lhl.2_Silent_p.L798L|PCDHAC2_uc003lhk.1_Silent_p.L798L|PCDHAC2_uc003lho.2_Silent_p.L812L|PCDHAC2_uc003lhn.2_Silent_p.L548L|PCDHAC2_uc003lhq.2_Silent_p.L799L|PCDHAC2_uc003lhs.2_Silent_p.L812L|PCDHAC2_uc003lhu.2_Silent_p.L812L|PCDHAC2_uc003lhw.2_Silent_p.L547L|PCDHAC2_uc003lhx.2_Silent_p.L810L|PCDHAC2_uc003lia.2_Silent_p.L811L|PCDHAC2_uc003lic.2_Silent_p.L803L|PCDHAC2_uc003lif.2_Silent_p.L812L|PCDHAC2_uc003lie.1_Silent_p.L812L|PCDHAC2_uc003lih.2_Silent_p.L825L	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	869	4 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.L812L(6)|p.L810L(2)|p.L869L(2)|p.L809L(1)|p.L547L(1)|p.L825L(1)|p.L799L(1)|p.L811L(1)|p.L803L(1)|p.L798L(1)		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)			CTGCCTCCCTGAGAGCAGGCA	0.468000														73			15		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150881820	150881820	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:150881820C>T	uc003eyp.3	+	7	1377	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Silent_p.F416F|MED12L_uc003eyo.3_Silent_p.F416F	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	416					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACACGGCTTTCAATCAGCAGG	0.507000														75			33		0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116073723	116073723	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:116073723C>T	uc001lbn.3	-	6	1000	c.699G>A	c.(697-699)cgG>cgA	p.R233R	AFAP1L2_uc001lbo.3_Silent_p.R233R|AFAP1L2_uc010qse.2_Silent_p.R286R|AFAP1L2_uc001lbp.3_Silent_p.R261R|AFAP1L2_uc001lbr.1_Silent_p.R233R	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	233	PH 1.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GCTCCTTCTTCCGCACTTGCT	0.567000														60			13		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52023386	52023386	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52023386C>T	uc002pwy.3	-	7	1520	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	SIGLEC6_uc002pwz.3_Missense_Mutation_p.E422K|SIGLEC6_uc010ydb.2_Missense_Mutation_p.E386K|SIGLEC6_uc010ydc.2_3'UTR|SIGLEC6_uc002pxa.3_3'UTR|SIGLEC6_uc010eoz.2_3'UTR	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	438					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ACCTTTGGTTCCTGAGGTTGC	0.498000														146			59		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208515	140208515	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140208515C>T	uc003lho.2	+	0	866	c.839C>T	c.(838-840)tCt>tTt	p.S280F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.S280F|PCDHAC2_uc011dab.2_Missense_Mutation_p.S280F	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	295	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTCATATTCTTTTAATAGC	0.388000														144			69		0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242383365	242383365	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:242383365C>T	uc001hzn.2	-	5	887	c.660G>A	c.(658-660)caG>caA	p.Q220Q	PLD5_uc021pll.1_Silent_p.Q128Q|PLD5_uc001hzl.4_Silent_p.Q158Q|PLD5_uc001hzm.4_Silent_p.Q12Q|PLD5_uc001hzo.2_Silent_p.Q128Q	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	220	PLD phosphodiesterase 1.					integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AGAAGGAGGACTGCAGCCGGC	0.547000														55			16		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120464920	120464920	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:120464920G>A	uc001eik.3	-	27	5449	c.5152C>T	c.(5152-5154)Cgc>Tgc	p.R1718C		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1718					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCATCTCGGCGAAGAGTGAAA	0.483000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					67			17		0	0	1	0	0
C10orf27	219793	broad.mit.edu	37	10	72538358	72538358	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72538358G>A	uc010qjm.1	-	5	852	c.462C>T	c.(460-462)tcC>tcT	p.S154S	C10orf27_uc001jrj.1_Silent_p.S154S|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Silent_p.S153S|C10orf27_uc009xqi.1_Intron|C10orf27_uc010qjo.1_Silent_p.S142S|C10orf27_uc009xqj.1_3'UTR|C10orf27_uc010qjp.1_3'UTR	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	154					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						AGGCCACCCGGGAAGCTAGCT	0.587000														151			59		0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11154776	11154776	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:11154776C>T	uc021tcy.1	+	18	2243	c.2013C>T	c.(2011-2013)ttC>ttT	p.F671F	CLEC16A_uc002dan.4_Silent_p.F653F|CLEC16A_uc002dao.3_Silent_p.F669F	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	671								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGGTGTTCTTCATGCTGCGTT	0.542000														234			64		0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38395848	38395848	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:38395848C>T	uc022bgy.1	+	0	103	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	ALDH1B1_uc004aay.3_Missense_Mutation_p.P35S	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	35					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CCCAGACATCCCCTACAACCA	0.612000														55			21		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420498	55420498	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55420498C>T	uc001sgp.4	+	1	653	c.275C>T	c.(274-276)gCt>gTt	p.A92V	NEUROD4_uc021qyr.1_Missense_Mutation_p.A92V	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	92					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGAGTCAAGGCTAATGCCAGA	0.502000														76			22		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52216173	52216173	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:52216173C>T	uc003jou.3	+	16	2581	c.2167C>T	c.(2167-2169)Cgt>Tgt	p.R723C	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.R254C	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	723					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTTGCAGTACCGTGTCACCCT	0.299000														47			11		0	0	1	0	0
FAM126A	84668	broad.mit.edu	37	7	22999935	22999935	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:22999935G>A	uc003svm.4	-	9	1186	c.931C>T	c.(931-933)Cga>Tga	p.R311*	FAM126A_uc003svn.4_Nonsense_Mutation_p.R167*	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	Homo sapiens family with sequence similarity 126, member A (FAM126A), mRNA.	311						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CTTGATATTCGAGAGGAAGTT	0.388000														226			41		0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16980627	16980627	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16980627C>T	uc002ney.2	+	13	2282	c.2259C>T	c.(2257-2259)gcC>gcT	p.A753A	SIN3B_uc002nez.2_Silent_p.A721A|SIN3B_uc010xpi.1_Silent_p.A311A	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	753					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATGCCCCGGCCACTGAGCAGC	0.662000														41			19		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26434399	26434399	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:26434399C>T	uc001isn.2	+	21	2801	c.2441C>T	c.(2440-2442)tCa>tTa	p.S814L	MYO3A_uc009xko.1_Missense_Mutation_p.S814L|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	814	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AACCTGAAATCACAATACTTC	0.323000														49			11		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747606	143747606	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143747606C>T	uc011ktw.2	+	0	112	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CGTCTTCACCCTGCTGGGAAA	0.512000														100			53		0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	44005977	44005977	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44005977C>T	uc002own.4	-	3	702	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	PHLDB3_uc002owo.3_Missense_Mutation_p.R148Q	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 3 (PHLDB3), mRNA.	148										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				AGCGGCCACTCGCTCCCCAGC	0.706000														8			4		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23079830	23079830	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23079830G>A	uc002dll.3	-	15	3596	c.3596C>T	c.(3595-3597)tCc>tTc	p.S1199F	USP31_uc002dlk.3_Missense_Mutation_p.S471F|USP31_uc010vca.2_Missense_Mutation_p.S502F|USP31_uc010bxm.3_Missense_Mutation_p.S487F	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	1199	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGCCATGGAGGAGCTCCGCAC	0.642000														89			38		0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111215776	111215776	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111215776G>A	uc001dzv.1	-	0	1880	c.1656C>T	c.(1654-1656)tcC>tcT	p.S552S		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	552						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGTGGCAGTGGAATTGCCCG	0.463000														128			37		0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51143224	51143224	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:51143224C>T	uc003bne.1	+	15	1878	c.1878C>T	c.(1876-1878)ctC>ctT	p.L626L	SHANK3_uc003bnf.1_Silent_p.L81L	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	626										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TGCAGTATCTCGAGTCGGTGG	0.667000														22			5		0	0	1	0	0
GRAMD2	196996	broad.mit.edu	37	15	72462204	72462204	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72462204C>T	uc002atq.3	-	1	142	c.118G>A	c.(118-120)Gag>Aag	p.E40K	GRAMD2_uc010bis.2_Missense_Mutation_p.E40K	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	40						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TCCGGGGGCTCCTCAACTCTG	0.507000														91			91		0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69472590	69472591	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:69472590_69472591CC>TT	uc002sfg.3	+	17	2024_2025	c.1668_1669CC>TT	c.(1666-1671)tcccgc>tcTTgc	p.R557C		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	557	Pro-rich.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ctcctccctcccgccctcctcc	0.624000									Familial Infantile Hemangioma					43			7		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903304	6903304	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:6903304C>T	uc003bqm.2	+	0	503	c.229C>T	c.(229-231)Cac>Tac	p.H77Y	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.H77Y|GRM7_uc003bql.2_Missense_Mutation_p.H77Y	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	77					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AAACGGGATCCACAGGCTGGA	0.647000														25			5		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089439	86089439	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:86089439C>T	uc021rxf.1	+	0	1581	c.1581C>T	c.(1579-1581)tcC>tcT	p.S527S	FLRT2_uc001xvr.3_Silent_p.S527S|FLRT2_uc010atd.3_Silent_p.S527S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	527					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACACAGCGTCCAGCCATGAGC	0.587000														129			50		0	0	1	0	0
MSI1	4440	broad.mit.edu	37	12	120785268	120785268	+	Silent	SNP	C	T	T	rs141481855	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:120785268C>T	uc001tye.1	-	11	904	c.840G>A	c.(838-840)gcG>gcA	p.A280A		NM_002442	NP_002433	O43347	MSI1H_HUMAN	Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.	280	Poly-Ala.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAACCACAGCCGCTGCCGCCG	0.627000														173			35		0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40193564	40193564	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:40193564C>T	uc002yxf.3	+	9	1590	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	ETS2_uc002yxg.3_Missense_Mutation_p.S377F	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	377					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TCAGACAAATCCTGCCAGTCA	0.547000														110			62		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67016572	67016572	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:67016572G>A	uc002jhu.3	-	18	2700	c.2557C>T	c.(2557-2559)Cgc>Tgc	p.R853C	ABCA9_uc010dez.3_Missense_Mutation_p.R853C	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	853					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTTAGGAAGCGAACTTTTGCT	0.398000														116			49		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21882208	21882208	+	Missense_Mutation	SNP	C	T	T	rs72657399		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:21882208C>T	uc003svc.3	+	66	10790	c.10759C>T	c.(10759-10761)Cgc>Tgc	p.R3587C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3587	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAAGAACTTTCGCCTTATCCT	0.393000									Kartagener syndrome					36			12		0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53639522	53639522	+	Missense_Mutation	SNP	G	A	A	rs151332923	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:53639522G>A	uc002ehp.3	-	25	3770	c.3706C>T	c.(3706-3708)Cgc>Tgc	p.R1236C	RPGRIP1L_uc002eho.4_Missense_Mutation_p.R1156C|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.R1190C|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.R1202C|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R1190C	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	1236					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.R1236H(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ACGGTGAAGCGAAGGCTGGTA	0.517000														65			5		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73464832	73464833	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73464832_73464833GG>AA	uc001jrx.4	+	23	3282_3283	c.2892_2893GG>AA	c.(2890-2895)gtggcc>gtAAcc	p.A965T	CDH23_uc001jry.3_Missense_Mutation_p.A965T|CDH23_uc001jrz.3_Missense_Mutation_p.A965T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	967	Cadherin 9.				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						TGCGGGTGGTGGCCAGTGATGC	0.663000														40			27		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57254689	57254689	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57254689G>A	uc001cym.4	-	2	1282	c.876C>T	c.(874-876)gcC>gcT	p.A292A	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Silent_p.A292A	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	292										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GCCTCTGAAAGGCCTGGAGGT	0.587000														115			7		0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75329450	75329450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75329450G>A	uc021rwo.1	-	0	1088	c.1088C>T	c.(1087-1089)cCt>cTt	p.P363L	PROX2_uc001xqp.2_Missense_Mutation_p.P363L|PROX2_uc001xqq.2_Intron	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	363					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GTCCTGGGGAGGACTGCTACT	0.537000														31			15		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11009471	11009471	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:11009471G>A	uc002daj.4	+	13	3069	c.2936G>A	c.(2935-2937)cGg>cAg	p.R979Q	CIITA_uc002dai.4_Missense_Mutation_p.R978Q|CIITA_uc002dak.4_Missense_Mutation_p.R394Q	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	978			Missing (in BLS2).		interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AAACTGGTGCGGATCCTCACG	0.572000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									62			12		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46898811	46898811	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:46898811C>T	uc001ndn.4	-	22	3459	c.3216G>A	c.(3214-3216)gtG>gtA	p.V1072V		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1072					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TTGGTACCACCACATCAGCAA	0.527000														69			20		0	0	1	0	0
CHDH	55349	broad.mit.edu	37	3	53854576	53854576	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:53854576G>A	uc003dgz.3	-	5	1486	c.1045C>T	c.(1045-1047)Cct>Tct	p.P349S		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA.	349					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	AGGGTGATAGGGCGGGTGCAT	0.552000														90			41		0	0	1	0	0
ABCC6P2	730013	broad.mit.edu	37	16	14916757	14916757	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:14916757A>G	uc002dcu.2	-	1	238	c.205T>C	c.(205-207)Ttc>Ctc	p.F69L						Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 2 (ABCC6P2), non-coding RNA.																		TTGGCTTTGAAGAGTGGGGAC	0.602000														19			6		0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4553315	4553315	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4553315C>T	uc001qmr.1	-	1	478	c.434G>A	c.(433-435)gGa>gAa	p.G145E		NM_020996	NP_066276	P10767	FGF6_HUMAN	Homo sapiens fibroblast growth factor 6 (FGF6), mRNA.	145					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			GTACAATCTTCCTTTACTGTT	0.488000														38			17		0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82444475	82444475	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:82444475G>A	uc002bgt.1	-	17	2489	c.2320C>T	c.(2320-2322)Cgt>Tgt	p.R774C	EFTUD1_uc002bgu.1_Missense_Mutation_p.R723C	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	774					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TCCATAGAACGAATCAAATCA	0.418000														91			25		0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19120895	19120895	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19120895G>A	uc002nkz.1	-	4	2169	c.2149C>T	c.(2149-2151)Ctc>Ttc	p.L717F	SUGP2_uc002nkx.2_Missense_Mutation_p.L703F|SUGP2_uc002nla.1_Missense_Mutation_p.L703F|SUGP2_uc002nlb.2_Missense_Mutation_p.L703F|SUGP2_uc010xqk.1_Missense_Mutation_p.L472F	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	703					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GAGGATAGGAGGGTCTGGGTC	0.642000														104			33		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70953127	70953128	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70953127_70953128CC>TT	uc001swb.4	-	15	4085_4086	c.4055_4056GG>AA	c.(4054-4056)agg>aAA	p.R1352K	PTPRB_uc010sto.2_Missense_Mutation_p.R1262K|PTPRB_uc010stp.2_Missense_Mutation_p.R1262K|PTPRB_uc001swc.4_Missense_Mutation_p.R1570K|PTPRB_uc001swa.4_Missense_Mutation_p.R1482K|PTPRB_uc001swd.4_Missense_Mutation_p.R1569K|PTPRB_uc009zrr.2_Missense_Mutation_p.R1449K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1352	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCATACTTGTCCTCACAGATCC	0.381000														123			62		0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40503539	40503539	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:40503539G>A	uc002lav.3	-	3	597	c.424C>T	c.(424-426)Cag>Tag	p.Q142*	RIT2_uc010dnf.3_Nonsense_Mutation_p.Q142*	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	142					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCACTCACCTGGCGGAACTGT	0.458000														206			42		0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114636424	114636424	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:114636424C>T	uc021osa.1	-	7	1594	c.1516_splice	c.e7-1	p.G506_splice	SYT6_uc021orz.1_Splice_Site_p.G421_splice|SYT6_uc001eev.3_Splice_Site_p.G421_splice|SYT6_uc001eeu.3_Intron	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	506	Necessary for cell membrane association (isoform 2) (By similarity).				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGAGGGTTTCCCTGGTGAAA	0.458000														67			6		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34078170	34078170	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34078170G>A	uc001zhi.3	+	65	9646	c.9576G>A	c.(9574-9576)atG>atA	p.M3192I	RYR3_uc010bar.3_Missense_Mutation_p.M3192I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3192					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTCCTGGATGAAGCGCATTG	0.498000														160			60		0	0	1	0	0
GIPC1	10755	broad.mit.edu	37	19	14593559	14593559	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:14593559G>A	uc002myt.3	-	3	500	c.230C>T	c.(229-231)aCc>aTc	p.T77I	GIPC1_uc002myv.3_Intron|GIPC1_uc002myu.3_Missense_Mutation_p.T77I|GIPC1_uc002myw.3_Intron|GIPC1_uc002myx.3_Missense_Mutation_p.T77I|GIPC1_uc002myy.3_Intron	NM_005716	NP_974223	O14908	GIPC1_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.	77					G-protein coupled receptor protein signaling pathway|endothelial cell migration|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CTTGACGTTGGTGAAGCCCTC	0.677000														25			9		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7776939	7776939	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:7776939G>A	uc001ijs.3	+	14	2004	c.1842G>A	c.(1840-1842)caG>caA	p.Q614Q		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	614					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.Q614R(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGATCCTGCAGATGTCTCTAG	0.552000														94			34		0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143986231	143986231	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:143986231C>T	uc002tvm.4	+	4	529	c.378C>T	c.(376-378)tcC>tcT	p.S126S	ARHGAP15_uc010zbl.1_Silent_p.S126S	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	126	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	Rac GTPase activator activity|protein binding			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AGGCTCTGTCCAATATGGTAA	0.303000														58			34		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43778170	43778170	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:43778170G>A	uc001ciu.3	+	11	2002	c.1825G>A	c.(1825-1827)Gga>Aga	p.G609R	TIE1_uc010okd.2_Missense_Mutation_p.G609R|TIE1_uc010oke.2_Missense_Mutation_p.G564R|TIE1_uc009vwq.3_Missense_Mutation_p.G565R|TIE1_uc010okf.1_Missense_Mutation_p.G254R|TIE1_uc010okg.2_Missense_Mutation_p.G254R	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	609	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTCCTGACGGGACTCACGCC	0.711000														44			13		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126004086	126004086	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:126004086C>T	uc001uhe.1	+	3	1201	c.1193C>T	c.(1192-1194)cCg>cTg	p.P398L	TMEM132B_uc021rgl.1_Missense_Mutation_p.P288L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	398						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)		GTGGAGTACCCGATTGAGGAC	0.532000														80			21		0	0	1	0	0
OPALIN	93377	broad.mit.edu	37	10	98105809	98105809	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98105809C>T	uc001kmj.3	-	5	754	c.315G>A	c.(313-315)gtG>gtA	p.V105V	OPALIN_uc010qor.2_Silent_p.V95V|OPALIN_uc001kmi.3_Silent_p.V95V|OPALIN_uc001kmk.3_Silent_p.V82V|OPALIN_uc010qos.2_Non-coding_Transcript	NM_033207	NP_149984	Q96PE5	OPALI_HUMAN	Homo sapiens oligodendrocytic myelin paranodal and inner loop protein (OPALIN), transcript variant 1, mRNA.	105						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CTACAGTCTTCACATATATGT	0.453000														150			56		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148055131	148055131	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:148055131T>A	uc004fcp.3	+	15	3877	c.3398T>A	c.(3397-3399)cTc>cAc	p.L1133H	AFF2_uc004fcq.3_Missense_Mutation_p.L1123H|AFF2_uc004fcr.3_Missense_Mutation_p.L1094H|AFF2_uc011mxb.2_Missense_Mutation_p.L1098H|AFF2_uc004fcs.3_Missense_Mutation_p.L1098H|AFF2_uc011mxc.2_Missense_Mutation_p.L774H	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1133					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGTGGAGCTCCTCAGGTGA	0.438000														20			16		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	148105	148105	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000192.1:148105C>T	uc010yih.1	-	12		c.2580G>A						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											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)				TCTTTTCTTTCATTTTCTGTT	0.438000														82			39		0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541451	40541451	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40541451G>A	uc002omu.3	-	4	1380	c.1315C>T	c.(1315-1317)Cat>Tat	p.H439Y	ZNF780B_uc002omv.3_Missense_Mutation_p.H291Y	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCATTGGAATGAATTTTTTGA	0.378000														210			42		0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4649113	4649113	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:4649113G>A	uc002fyu.2	+	13	2112	c.2082_splice	c.e13-1	p.W694_splice	ZMYND15_uc002fyv.2_Splice_Site_p.W686_splice|ZMYND15_uc002fyt.2_Splice_Site_p.W647_splice	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	647							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CGCCCCCGCAGGTACTGCAAT	0.741000														11			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140230326	140230326	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140230326C>T	uc003lhu.2	+	0	2970	c.2246C>T	c.(2245-2247)tCg>tTg	p.S749L	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_uc003lht.1_Missense_Mutation_p.S749L	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	786					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)			GGGAGTTGGTCGTACTCGCAG	0.647000														36			43		0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55048253	55048253	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55048253G>A	uc010erm.2	+	0	133	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	KIR3DX1_uc010yfa.1_Non-coding_Transcript|KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GAGACACAGGGAAGCATTCCA	0.547000														100			44		0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185766484	185766484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:185766484G>A	uc003fpy.3	-	12	1668	c.1603C>T	c.(1603-1605)Ctc>Ttc	p.L535F	ETV5_uc003fpz.3_Missense_Mutation_p.L493F	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	493					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATGTCCAGGAGGTAAGCGGGG	0.602000			T	"""TMPRSS2, SCL45A3"""	Prostate									48			22		0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119892174	119892174	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:119892174C>T	uc011bjf.2	-	7	1457	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E	GPR156_uc011bjg.2_Silent_p.E355E	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	359						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TGAGGAGCCTCTCCATGGAGC	0.527000														54			21		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507520	74507520	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:74507520C>T	uc001dfy.4	-	6	1287	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	365										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTGCATTATTCTTCAATGAAC	0.338000														72			22		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82763915	82763915	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82763915C>T	uc003uhx.2	-	2	3240	c.2951G>A	c.(2950-2952)gGt>gAt	p.G984D	PCLO_uc003uhv.2_Missense_Mutation_p.G984D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	930					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						TGGTGCTTGACCTGTGGATTT	0.512000														33			21		0	0	1	0	0
H2BFWT	158983	broad.mit.edu	37	X	103267933	103267933	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:103267933C>T	uc004elr.3	-	0	324	c.300G>A	c.(298-300)cgG>cgA	p.R100R		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA.	100					nucleosome assembly	nuclear membrane|nucleosome	DNA binding	p.R100R(2)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						TCACGGCCTCCCGGGAAAGGC	0.637000														18			13		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196749452	196749452	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196749452G>A	uc002utj.4	-	34	5721	c.5620C>T	c.(5620-5622)Cga>Tga	p.R1874*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1874					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTAGTTCTCGAAGAATCTTA	0.383000														51			28		0	0	1	0	0
CTSC	1075	broad.mit.edu	37	11	88027630	88027630	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:88027630T>C	uc001pck.4	-	6	1037	c.936A>G	c.(934-936)caA>caG	p.Q312Q	CTSC_uc001pcl.4_Silent_p.Q164Q	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	312			Q -> R (in PLS).		immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCCAAAATCTTGGGCGTACT	0.458000														60			22		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102056928	102056928	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:102056928G>A	uc001kqx.1	-	5	1377	c.994C>T	c.(994-996)Cca>Tca	p.P332S	PKD2L1_uc009xwm.1_Missense_Mutation_p.P285S	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	332					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	p.P332P(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGCCAGGATGGGATGGCACCT	0.562000														76			23		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11725334	11725334	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11725334G>A	uc002gne.3	+	45	8873	c.8805G>A	c.(8803-8805)gaG>gaA	p.E2935E	DNAH9_uc010coo.3_Silent_p.E2229E	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2935	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACAACAGAGAGAACTGTTGGA	0.478000														25			18		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39112006	39112006	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39112006G>A	uc003xmt.4	+	17	2221	c.1976G>A	c.(1975-1977)gGa>gAa	p.G659E	ADAM32_uc011lch.2_Missense_Mutation_p.G560E|ADAM32_uc003xmu.4_Missense_Mutation_p.G553E|ADAM32_uc003xmv.3_Missense_Mutation_p.G83E	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	659					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G658V(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CGTTCCAAAGGATTTTCCATA	0.343000														9			7		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87772351	87772351	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87772351C>T	uc003ujn.3	+	14	1446	c.1231C>T	c.(1231-1233)Cct>Tct	p.P411S	ADAM22_uc003ujk.2_Missense_Mutation_p.P411S|ADAM22_uc003ujl.2_Missense_Mutation_p.P411S|ADAM22_uc003ujm.3_Missense_Mutation_p.P411S|ADAM22_uc003ujo.3_Missense_Mutation_p.P411S|ADAM22_uc003ujp.1_Missense_Mutation_p.P463S	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	411	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CTATTATCTTCCTAAAAAGTT	0.343000														105			38		0	0	1	0	0
OR8G1	26494	broad.mit.edu	37	11	124121217	124121217	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124121217C>T	uc001pzx.3	+	1	792	c.792C>T	c.(790-792)atC>atT	p.I264I		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		CATCTTCAATCAGCTCCATGG	0.423000														70			28		0	0	1	0	0
CHDH	55349	broad.mit.edu	37	3	53857356	53857356	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:53857356C>T	uc003dgz.3	-	2	1121	c.680G>A	c.(679-681)tGg>tAg	p.W227*		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA.	227					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CATGTCCATCCAGCCGAAGCC	0.607000														6			7		0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28282549	28282549	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:28282549G>A	uc001bpg.3	+	6	1152	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	SMPDL3B_uc001bpf.3_Missense_Mutation_p.A321T|SMPDL3B_uc010ofq.2_Missense_Mutation_p.A115T|SMPDL3B_uc010ofr.2_Missense_Mutation_p.A273T	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	321					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		CAACAATCCAGCCATCCGGGT	0.567000														55			14		0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23692817	23692817	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:23692817C>T	uc003zpu.3	-	6	1093	c.818G>A	c.(817-819)gGa>gAa	p.G273E	ELAVL2_uc003zps.3_Missense_Mutation_p.G260E|ELAVL2_uc003zpt.3_Missense_Mutation_p.G260E|ELAVL2_uc003zpv.3_Missense_Mutation_p.G273E|ELAVL2_uc003zpw.3_Missense_Mutation_p.G260E	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	273					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.G273R(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CCACCCTGTTCCAGGGTGCCC	0.463000														74			6		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135203728	135203728	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135203728G>A	uc004cbk.3	-	9	3440	c.3257C>T	c.(3256-3258)tCa>tTa	p.S1086L	SETX_uc004cbj.3_Missense_Mutation_p.S705L|SETX_uc010mzt.3_Missense_Mutation_p.S705L	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1086					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CACTTCAGATGAACTTTCAAA	0.348000														103			14		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141473643	141473643	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141473643G>A	uc002tvj.1	-	36	6894	c.5922C>T	c.(5920-5922)ttC>ttT	p.F1974F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1974					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAATTAAGTTGAAACCATGAT	0.333000										TSP Lung(27;0.18)				116			36		0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070414	114070414	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:114070414G>A	uc003ebi.3	-	3	691	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L	ZBTB20_uc003ebj.3_Silent_p.L98L|ZBTB20_uc010hqp.3_Silent_p.L98L|ZBTB20_uc003ebk.3_Silent_p.L98L|ZBTB20_uc003ebl.3_Silent_p.L98L|ZBTB20_uc003ebm.3_Silent_p.L98L|ZBTB20_uc003ebn.3_Silent_p.L98L|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGGATCTGCAGAGCTTCCGAC	0.582000														42			29		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471630	61471630	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61471630G>A	uc002ljl.3	+	7	1000	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	SERPINB7_uc002ljm.3_Missense_Mutation_p.E302K|SERPINB7_uc010xet.2_Missense_Mutation_p.E285K|SERPINB7_uc010dqg.3_Missense_Mutation_p.E302K	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	302					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TATCTTTGATGAATCCAAAGC	0.408000														55			26		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145006619	145006619	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145006619G>A	uc003zaf.1	-	15	2507	c.2337C>T	c.(2335-2337)ttC>ttT	p.F779F	PLEC_uc003zab.1_Silent_p.F642F|PLEC_uc003zac.1_Silent_p.F646F|PLEC_uc003zad.2_Silent_p.F642F|PLEC_uc003zae.1_Silent_p.F610F|PLEC_uc003zag.1_Silent_p.F620F|PLEC_uc003zah.2_Silent_p.F628F|PLEC_uc003zaj.2_Silent_p.F669F	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	779	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCCAGTCGAAGCCCACCT	0.632000														64			24		0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44611651	44611651	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44611651C>T	uc002oyh.2	+	5	1655	c.1338C>T	c.(1336-1338)caC>caT	p.H446H	LOC100379224_uc002oyi.3_Non-coding_Transcript	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	446					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TTGACTTTCACCAGCGCGTCC	0.463000														101			15		0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117188502	117188502	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117188502C>T	uc004biy.4	-	3	646	c.6G>A	c.(4-6)gcG>gcA	p.A2A	DFNB31_uc004bix.3_5'Flank|DFNB31_uc004biz.4_Silent_p.A385A|DFNB31_uc004bja.4_Silent_p.A385A	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	385					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGCCGAGTTCGCCATGGTCT	0.632000														22			15		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63548115	63548115	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:63548115G>A	uc002lkb.3	+	11	2769	c.2343G>A	c.(2341-2343)gaG>gaA	p.E781E	CDH7_uc002ljz.3_Silent_p.E781E	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	781					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E781Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CTGGCCAAGAGAGTTTGTACT	0.373000														85			16		0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747052	10747052	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10747052C>T	uc002mpf.3	+	14	1426	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	SLC44A2_uc002mpe.4_Silent_p.F427F|SLC44A2_uc002mpg.1_Silent_p.F149F|SLC44A2_uc002mph.3_5'UTR	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	429					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GTTGCCAGTTCGCCTTCTACG	0.602000														67			33		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72040764	72040764	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72040764C>T	uc002atb.1	+	12	2325	c.2246C>T	c.(2245-2247)tCg>tTg	p.S749L	THSD4_uc002ate.2_Missense_Mutation_p.S389L	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	749	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTTCAGTGCTCGGTGCCCTGC	0.577000														66			13		0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49490508	49490508	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49490508G>A	uc002plp.3	-	2	676	c.435C>T	c.(433-435)gaC>gaT	p.D145D	GYS1_uc010emm.3_Intron|GYS1_uc010xzz.2_Silent_p.D65D|GYS1_uc010yaa.1_Non-coding_Transcript	NM_002103	NP_002094	P13807	GYS1_HUMAN	Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.	145					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGGCCTCGCGGTCGTACCACG	0.607000														28			14		0	0	1	0	0
C2orf43	60526	broad.mit.edu	37	2	20939734	20939734	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:20939734G>A	uc002rec.3	-	4	733	c.700C>T	c.(700-702)Ctt>Ttt	p.L234F	C2orf43_uc010ykb.1_Missense_Mutation_p.L104F|C2orf43_uc010ykc.1_Missense_Mutation_p.L186F|C2orf43_uc010ykd.1_Intron|C2orf43_uc010ykf.1_Missense_Mutation_p.L104F|C2orf43_uc021vem.1_Intron|C2orf43_uc010yke.1_Missense_Mutation_p.L192F|C2orf43_uc010yka.1_Intron	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN	Homo sapiens chromosome 2 open reading frame 43 (C2orf43), mRNA.	234										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTTACCAAGGCAGAATGGT	0.348000														78			16		0	0	1	0	0
MRPS31	10240	broad.mit.edu	37	13	41345346	41345346	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:41345346C>T	uc001uxm.4	-	1	1	c.-74_splice	c.e1-1			NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CCCGCCCTCTCTTCCGCTTCC	0.637000														20			12		0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114090282	114090282	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:114090282C>T	uc011lwp.2	-	0	432	c.432G>A	c.(430-432)atG>atA	p.M144I		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R143R(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AGACCGTAGCCATCCGTGCAC	0.547000														70			29		0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44114596	44114596	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:44114596C>T	uc003owr.3	+	10	859	c.795C>T	c.(793-795)ccC>ccT	p.P265P	TMEM63B_uc003owq.1_Silent_p.P265P|TMEM63B_uc003ows.3_Silent_p.P168P|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	265						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AAGCCTACCCCAACTGCACAG	0.562000														70			33		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537629	55537629	+	Missense_Mutation	SNP	G	A	A	rs141279458	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55537629G>A	uc003xsd.1	+	3	1335	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	396					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTATGGAGCGAAGCAGTAAT	0.433000														45			15		0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151451837	151451837	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151451837C>T	uc003ezc.3	+	0	134	c.14C>T	c.(13-15)gCt>gTt	p.A5V	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	5						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGGCTAAAAGCTCTCTGTTTG	0.388000														18			11		0	0	1	0	0
FERD3L	222894	broad.mit.edu	37	7	19184938	19184938	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:19184938G>A	uc003suo.1	-	0	107	c.48C>T	c.(46-48)ttC>ttT	p.F16F	BC043576_uc003sun.1_Non-coding_Transcript	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA.	16					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.D15H(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GGTCTGCGACGAAGTCCAGCA	0.672000														47			17		0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68478463	68478463	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:68478463C>T	uc001ooc.3	-	8	1353	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	405	CXC 2.				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TCTGGGCTTTCTTCATAATTT	0.393000														51			20		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784186	82784186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82784186G>A	uc003uhx.2	-	1	2060	c.1771C>T	c.(1771-1773)Ctt>Ttt	p.L591F	PCLO_uc003uhv.2_Missense_Mutation_p.L591F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	537	Pro-rich.				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						GTATTGCAAAGAGGACAGATG	0.453000														296			104		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234527192	234527192	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234527192G>A	uc002vup.3	+	0	902	c.839G>A	c.(838-840)gGa>gAa	p.G280E	UGT1A1_uc010zmv.1_Missense_Mutation_p.G280E	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	283					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGCCATCAGGGAAAGCCATTG	0.398000														312			107		0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032457	30032457	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:30032457G>A	uc021qfi.1	-	0	1769	c.1769C>T	c.(1768-1770)cCc>cTc	p.P590L	KCNA4_uc001msk.3_Missense_Mutation_p.P590L	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	590						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.L589L(1)|p.L589F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CAAATTAGAGGGGAGGTATGG	0.433000														46			18		0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738921	138738921	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:138738921G>A	uc003esy.1	-	0	848	c.583C>T	c.(583-585)Cca>Tca	p.P195S		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	195	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGGGTTCTGGGATGGGGCCC	0.632000														49			16		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81702197	81702197	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81702197C>T	uc001kbh.3	-	3	423	c.380G>A	c.(379-381)gGg>gAg	p.G127E		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	127	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TCCTATGTTCCCCTGCTTCCC	0.592000														41			17		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24448111	24448111	+	Missense_Mutation	SNP	C	T	T	rs146993893	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:24448111C>T	uc003ned.1	-	16	1783	c.1672G>A	c.(1672-1674)Gac>Aac	p.D558N	GPLD1_uc010jpr.1_Missense_Mutation_p.D395N|GPLD1_uc010jps.1_Missense_Mutation_p.D558N	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	558						extracellular region	glycosylphosphatidylinositol phospholipase D activity	p.D558N(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTACCTTTGTCGCTCAGGCTG	0.522000														31			16		0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218940147	218940147	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:218940147G>A	uc010fvl.2	+	8	1450	c.932G>A	c.(931-933)gGg>gAg	p.G311E	RUFY4_uc002vgw.3_Missense_Mutation_p.G138E	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	311							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAGGTGATAGGGATGGAGGCT	0.572000														19			6		0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151705022	151705022	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:151705022C>T	uc003wkp.3	+	6	1289	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	GALNTL5_uc010lqf.3_Missense_Mutation_p.S229L|GALNTL5_uc003wkq.3_Missense_Mutation_p.S91L|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	340	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TTGGAACTTTCACTAAGGGTA	0.328000														94			33		0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3643301	3643301	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3643301G>A	uc002lyj.2	-	12	1678	c.1589C>T	c.(1588-1590)tCc>tTc	p.S530F	PIP5K1C_uc010xhq.2_Missense_Mutation_p.S530F|PIP5K1C_uc010xhr.2_Missense_Mutation_p.S530F	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	530					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGGGATGTGGATGACAGAGT	0.662000														101			42		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173503725	173503725	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:173503725C>T	uc001giz.2	-	15	2295	c.1872G>A	c.(1870-1872)atG>atA	p.M624I	SLC9C2_uc009wwe.2_Missense_Mutation_p.M182I|SLC9C2_uc010pmq.1_Intron	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	624					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GATGTATTATCATAGGATAAA	0.259000														79			8		0	0	1	0	0
ACAP3	116983	broad.mit.edu	37	1	1229502	1229502	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1229502G>A	uc001aeb.2	-	21	2291	c.2217C>T	c.(2215-2217)ccC>ccT	p.P739P	ACAP3_uc001ady.2_Silent_p.P469P|ACAP3_uc001aea.2_Silent_p.P664P	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	739					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CGTGGTGCAGGGGCGCCCGGC	0.711000														5			3		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51170907	51170907	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51170907G>A	uc002psx.1	-	21	4329	c.4310C>T	c.(4309-4311)cCg>cTg	p.P1437L	SHANK1_uc002psw.1_Missense_Mutation_p.P821L	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	1437					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGCGGCGGGCGGGCTGGCGGG	0.796000														2			4		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897943	175897943	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:175897943C>T	uc003iuc.3	+	4	1937	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S	ADAM29_uc003iud.3_Missense_Mutation_p.P423S|ADAM29_uc010irr.3_Missense_Mutation_p.P423S|ADAM29_uc011cki.2_Missense_Mutation_p.P423S|ADAM29_uc021xuo.1_Missense_Mutation_p.P423S	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	423	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGCAAAAGATCCCTGCTGTCT	0.443000														91			33		0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42458807	42458807	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42458807G>A	uc001zpd.3	-	15	1744	c.1593C>T	c.(1591-1593)tcC>tcT	p.S531S	VPS39_uc001zpc.3_Silent_p.S520S|VPS39_uc001zpb.3_5'Flank	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	531					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CTTTCAGAGGGGAGTTGGCTT	0.547000														51			21		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363937	22363937	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22363937C>T	uc002nqs.1	-	2	900	c.582G>A	c.(580-582)gaG>gaA	p.E194E		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	194					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)				TGTAGGGTTTCTCTCCAGTAT	0.348000														110			10		0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158750330	158750330	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:158750330G>A	uc003lxr.1	-	2	138	c.96C>T	c.(94-96)gtC>gtT	p.V32V		NM_002187	NP_002178	P29460	IL12B_HUMAN	Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.	32	Ig-like C2-type.				T-helper 1 type immune response|T-helper cell differentiation|cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAATTCTACGACATAAACTG	0.498000														37			15		0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44676255	44676255	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44676255C>T	uc002oys.3	+	3	210	c.30C>T	c.(28-30)ttC>ttT	p.F10F	ZNF226_uc010ejg.3_Silent_p.F10F|ZNF226_uc002oyn.3_Silent_p.F10F|ZNF226_uc002oyo.3_Silent_p.F10F|ZNF226_uc002oyp.3_Silent_p.F10F|ZNF226_uc002oyq.3_5'UTR|ZNF226_uc002oyr.3_5'UTR|ZNF226_uc002oyt.3_Silent_p.F10F	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	10	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CAGTGACCTTCAAGGACGTGG	0.507000														141			42		0	0	1	0	0
DGUOK	1716	broad.mit.edu	37	2	74185845	74185845	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74185845C>T	uc002sjx.3	+	6	901	c.816C>T	c.(814-816)acC>acT	p.T272T	DGUOK_uc002sjy.3_Silent_p.T184T|DGUOK_uc002sjz.3_Non-coding_Transcript	NM_080916	NP_550438	Q16854	DGUOK_HUMAN	Homo sapiens deoxyguanosine kinase (DGUOK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	272					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						AGGTAAACACCTTTGTAAAGA	0.413000														68			18		0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72367986	72367986	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72367986C>T	uc021ucp.1	+	3	636	c.627C>T	c.(625-627)ttC>ttT	p.F209F	GPR142_uc010wqy.2_Silent_p.F212F	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	212						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						TCATCGTGTTCGCGGGCTTCC	0.652000														20			14		0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945447	4945447	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4945447G>A	uc010qyr.2	-	0	123	c.123C>T	c.(121-123)atC>atT	p.I41I		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTTCCCCAAGATAACTGTCA	0.502000														63			18		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38950158	38950158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38950158C>T	uc021yzh.1	+	85	12980	c.12871C>T	c.(12871-12873)Ccc>Tcc	p.P4291S	DNAH8_uc003ooe.2_Missense_Mutation_p.P4074S|DNAH8_uc003oog.1_Missense_Mutation_p.P523S	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGGAATATTCCCTACGAATT	0.353000														207			15		0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54142212	54142212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:54142212C>T	uc003xrh.1	-	2	1163	c.788G>A	c.(787-789)cGa>cAa	p.R263Q	OPRK1_uc022aup.1_Missense_Mutation_p.R143Q|OPRK1_uc003xri.1_Missense_Mutation_p.R263Q|OPRK1_uc010lyc.1_Missense_Mutation_p.R174Q	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	263					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ATCTTTCTCTCGGGAGCCAGA	0.547000														51			25		0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106066431	106066431	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106066431C>T	uc001yrw.1	-	4	1313	c.1301G>A	c.(1300-1302)cGa>cAa	p.R434Q	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.R381Q|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_Non-coding_Transcript					RecName: Full=Ig epsilon chain C region;																		AGACACCGCTCGCTGGACGGT	0.607000														128			43		0	0	1	0	0
BHLHE22	27319	broad.mit.edu	37	8	65494180	65494180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:65494180G>A	uc003xvi.3	+	0	1386	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	LOC401463_uc003xvh.3_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.	278	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CCCTCGGTGCGAAAGCTCTCC	0.647000														17			8		0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64535070	64535070	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64535070G>A	uc001obb.2	-	9	1767	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	SF1_uc010rnm.2_Missense_Mutation_p.P131S|SF1_uc010rnn.2_Missense_Mutation_p.P413S|SF1_uc001oaz.2_Missense_Mutation_p.P564S|SF1_uc001oba.2_Missense_Mutation_p.P439S|SF1_uc001obd.2_Missense_Mutation_p.P439S|SF1_uc001obc.2_Missense_Mutation_p.P439S|SF1_uc001obe.2_Missense_Mutation_p.P324S|SF1_uc010rno.2_Missense_Mutation_p.P324S|SF1_uc021qky.1_5'Flank	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	439	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGGTGCCCAGGAGGGTGGGGG	0.607000											OREG0021062	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		100			41		0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114282476	114282476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:114282476G>A	uc009zwi.2	-	22	2926	c.2782C>T	c.(2782-2784)Cac>Tac	p.H928Y	RBM19_uc001tvn.4_Missense_Mutation_p.H928Y|RBM19_uc001tvm.3_Missense_Mutation_p.H928Y	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	928					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTCCTACCGTGAAAGTGAGCG	0.657000														11			4		0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55419298	55419298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55419298G>A	uc001nhs.1	+	0	919	c.919G>A	c.(919-921)Gag>Aag	p.E307K		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	307					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)				TGTTTTCTTGGAGGCTAAAGG	0.363000														163			58		0	0	1	0	0
PPA2	27068	broad.mit.edu	37	4	106367581	106367581	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:106367581G>A	uc003hxl.3	-	4	420	c.400C>T	c.(400-402)Cct>Tct	p.P134S	PPA2_uc003hxn.3_Missense_Mutation_p.P134S|PPA2_uc003hxo.3_Intron|PPA2_uc003hxp.3_Intron|PPA2_uc003hxq.3_Missense_Mutation_p.P41S|PPA2_uc011cfa.1_Missense_Mutation_p.P41S	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	Homo sapiens pyrophosphatase (inorganic) 2 (PPA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	134					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		CCCTTGTAAGGGAAGATATTC	0.373000														144			12		0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122437790	122437790	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122437790C>T	uc003efq.4	+	13	4851	c.4792C>T	c.(4792-4794)Ctc>Ttc	p.L1598F	PARP14_uc021xdc.1_Missense_Mutation_p.L1462F|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.L1315F|PARP14_uc003efs.1_Missense_Mutation_p.L1315F	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1598	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGTTCAGCGCCTCACGAAATC	0.388000														24			5		0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374541	8374541	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8374541G>A	uc001qui.2	-	6	1831	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L	FAM90A1_uc001quh.2_Silent_p.L424L	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	424							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GGCTCTGAGCGAGGAAGGCTC	0.592000														41			10		0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131375669	131375669	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131375669C>T	uc004bvl.4	+	38	5180	c.5038C>T	c.(5038-5040)Ctg>Ttg	p.L1680L	SPTAN1_uc004bvm.4_Silent_p.L1685L|SPTAN1_uc004bvn.4_Silent_p.L1660L	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1680					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGTGGAGGCCCTGCTGGCATC	0.478000														57			15		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22890763	22890763	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22890763G>A	uc002zwf.3	-	4	1412	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.S403F|PRAME_uc010gtr.3_Missense_Mutation_p.S419F|PRAME_uc002zwg.3_Missense_Mutation_p.S419F|PRAME_uc002zwh.3_Missense_Mutation_p.S419F|PRAME_uc002zwi.3_Missense_Mutation_p.S419F|PRAME_uc002zwj.3_Missense_Mutation_p.S419F|PRAME_uc002zwk.3_Missense_Mutation_p.S419F	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	419	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GGCAGATATGGAGATGGAATT	0.547000														49			17		0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53603060	53603060	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:53603060C>T	uc001vhl.3	+	0	185	c.89C>T	c.(88-90)cCc>cTc	p.P30L	OLFM4_uc001vhk.2_Missense_Mutation_p.P30L	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	30					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CCTCCAATTCCCAGCCCCGGC	0.602000														191			46		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632266	122632266	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122632266G>A	uc003efz.1	-	16	2590	c.2286C>T	c.(2284-2286)ttC>ttT	p.F762F	SEMA5B_uc011bju.1_Silent_p.F704F|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.F762F|SEMA5B_uc010hro.1_Silent_p.F704F|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	762	TSP type-1 2.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGCACGTCTTGAACTCCTGCG	0.726000														10			5		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120655881	120655881	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:120655881G>A	uc003vjq.4	+	2	859	c.412G>A	c.(412-414)Ggg>Agg	p.G138R	C7orf58_uc003vjr.1_Missense_Mutation_p.G138R|C7orf58_uc003vjs.4_Missense_Mutation_p.G138R	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	138						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					TGCTGGCCTAGGGCCGGGGCT	0.448000														25			10		0	0	1	0	0
KCNN1	3780	broad.mit.edu	37	19	18092675	18092675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18092675C>T	uc002nht.3	+	4	966	c.656C>T	c.(655-657)cCc>cTc	p.P219L	KCNN1_uc010xqa.1_Missense_Mutation_p.P219L	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	219					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						ACGTACGCGCCCTCGGTGGCC	0.652000														25			9		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167645800	167645800	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:167645800C>T	uc010jjd.3	+	22	4877	c.4877C>T	c.(4876-4878)tCc>tTc	p.S1626F	ODZ2_uc003lzr.4_Missense_Mutation_p.S1396F|ODZ2_uc003lzt.4_Missense_Mutation_p.S999F|ODZ2_uc010jje.3_Missense_Mutation_p.S890F	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)		AATGGGAATTCCCTGAAGATC	0.498000														83			41		0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119986065	119986065	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:119986065G>A	uc001pwz.3	-	7	1809	c.1685C>T	c.(1684-1686)tCt>tTt	p.S562F	TRIM29_uc001pwx.3_Non-coding_Transcript|TRIM29_uc010rzi.2_Missense_Mutation_p.S301F|TRIM29_uc010rzj.2_Missense_Mutation_p.S295F|TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	562					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTGCTTGCCAGATTTCCAAGT	0.612000														24			9		0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47300925	47300925	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:47300925G>A	uc010fbb.3	+	20	2880	c.2512G>A	c.(2512-2514)Gag>Aag	p.E838K	TTC7A_uc002rvm.3_Missense_Mutation_p.E780K|TTC7A_uc002rvo.3_Missense_Mutation_p.E814K|TTC7A_uc010fbc.3_Missense_Mutation_p.E460K|TTC7A_uc002rvp.3_Missense_Mutation_p.E695K|C2orf61_uc010fbd.3_Intron|TTC7A_uc002rvq.3_Missense_Mutation_p.E554K|TTC7A_uc002rvr.3_Missense_Mutation_p.E263K	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	814							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TACGTGCCACGAGGCGTGGCA	0.662000														50			30		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705332	30705332	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:30705332G>A	uc003xil.3	-	0	1202	c.1202C>T	c.(1201-1203)tCa>tTa	p.S401L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	401										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTTATAAGATGAAATAACTGT	0.333000														99			19		0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24442218	24442218	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:24442218C>T	uc002kwa.3	-	1	438	c.375G>A	c.(373-375)ggG>ggA	p.G125G	AQP4_uc002kvz.3_Silent_p.G103G	NM_001650	NP_001641	P55087	AQP4_HUMAN	Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA.	125					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CAATGATGGCCCCCAGGCACT	0.557000														67			28		0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118960710	118960710	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:118960710G>A	uc010qsr.2	+	1	264	c.264G>A	c.(262-264)caG>caA	p.Q88Q		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	88						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)		GGCATCTGCAGAAGGTGAAGC	0.517000														166			66		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97150338	97150338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:97150338C>T	uc021rcc.1	+	23	3296	c.3218C>T	c.(3217-3219)tCa>tTa	p.S1073L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1073										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GATCAAAACTCAGGGTAAAAA	0.383000														18			6		0	0	1	0	0
ZNF572	137209	broad.mit.edu	37	8	125989806	125989806	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:125989806G>A	uc003yrr.3	+	2	1451	c.1296G>A	c.(1294-1296)agG>agA	p.R432R		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R432R(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTCACCAAAGGACACATACAG	0.438000										HNSCC(60;0.17)				76			39		0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113464984	113464984	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:113464984C>T	uc001vsj.4	+	4	473	c.385C>T	c.(385-387)Cct>Tct	p.P129S	ATP11A_uc001vsi.4_Missense_Mutation_p.P129S|ATP11A_uc001vsm.1_Missense_Mutation_p.P5S	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	129					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)				GAACCAGTGTCCTGTTCATTT	0.473000														146			16		0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62417456	62417456	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62417456G>A	uc001nud.3	-	1	149	c.96C>T	c.(94-96)tcC>tcT	p.S32S		NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	32					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TGATTTCCTGGGACAGCTCCT	0.493000														55			15		0	0	1	0	0
HRH3	11255	broad.mit.edu	37	20	60791598	60791598	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:60791598C>T	uc002yci.3	-	2	1099	c.802G>A	c.(802-804)Gag>Aag	p.E268K	HRH3_uc002ycf.2_Missense_Mutation_p.E268K|HRH3_uc002ych.3_Missense_Mutation_p.E268K|HRH3_uc002ycg.3_Missense_Mutation_p.E268K	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	268					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GGCATGGCCTCCCCGTGCCCC	0.776000														7			5		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869840	4869840	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4869840G>C	uc010qyo.2	-	0	599	c.599C>G	c.(598-600)gCt>gGt	p.A200G		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCACCCCAAGCTTCTGGGCA	0.532000														91			32		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76752151	76752151	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:76752151G>A	uc002lmt.3	+	1	160	c.160G>A	c.(160-162)Gag>Aag	p.E54K	SALL3_uc010dra.3_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CAGCGTGTGCGAGAAATGCTG	0.687000														18			5		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166234156	166234156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166234156G>A	uc002udc.3	+	22	4594	c.4304G>A	c.(4303-4305)cGa>cAa	p.R1435Q	SCN2A_uc002udd.3_Missense_Mutation_p.R1435Q|SCN2A_uc002ude.3_Missense_Mutation_p.R1435Q	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1435					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTTGATTCACGAAATGTAAGT	0.269000														94			34		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2432910	2432910	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:2432910G>A	uc010qxl.2	-	16	2571	c.2562C>T	c.(2560-2562)gcC>gcT	p.A854A	TRPM5_uc001lwm.4_Silent_p.A854A|TRPM5_uc009ydn.3_Silent_p.A856A	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	854						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTTGTGTATGGCAAAGATAT	0.637000														64			35		0	0	1	0	0
C1orf194	127003	broad.mit.edu	37	1	109649166	109649166	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:109649166C>T	uc009wev.3	-	3	498	c.430G>A	c.(430-432)Gga>Aga	p.G144R	C1orf194_uc001dwp.4_Non-coding_Transcript|C1orf194_uc009wew.3_Missense_Mutation_p.G132R	NM_001122961	NP_001116433	Q5T5A4	CA194_HUMAN	Homo sapiens chromosome 1 open reading frame 194 (C1orf194), mRNA.	144										large_intestine(2)|lung(2)|ovary(2)	6						CCTATGGATCCTTGGATGCTG	0.493000														278			104		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34158556	34158556	+	Silent	SNP	G	A	A	rs142510996		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34158556G>A	uc001bxm.1	-	24	4203	c.4026C>T	c.(4024-4026)atC>atT	p.I1342I	CSMD2_uc001bxn.1_Silent_p.I1302I|CSMD2_uc001bxo.1_Silent_p.I215I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1302	CUB 8.					integral to membrane|plasma membrane	protein binding	p.L1342L(1)|p.E1341Q(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTCTGCTTCGATGGTCCAGA	0.567000														175			19		0	0	1	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709191	128709191	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:128709191C>T	uc001qeo.1	-	1	1056	c.1005G>A	c.(1003-1005)ggG>ggA	p.G335G	KCNJ1_uc001qep.1_Silent_p.G316G|KCNJ1_uc001qeq.1_Silent_p.G316G|KCNJ1_uc001qer.1_Silent_p.G316G|KCNJ1_uc001qes.1_Silent_p.G316G|KCNJ1_uc021qsb.1_Silent_p.G316G	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	335					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	p.G335G(2)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CTCGGTATTTCCCTTCCTTTG	0.493000														60			26		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63883944	63883944	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63883944G>A	uc021qks.1	+	0	205	c.205G>A	c.(205-207)Gac>Aac	p.D69N	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.D69N	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	41					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.N68N(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CTACTGCAACGACCGGGGACT	0.607000														44			23		0	0	1	0	0
PHF7	51533	broad.mit.edu	37	3	52454938	52454938	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52454938C>T	uc003ddy.3	+	6	1239	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PHF7_uc003ddz.3_Missense_Mutation_p.R145C	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA.	145						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TGACAAACATCGCCCAACACA	0.493000														94			38		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183104955	183104955	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:183104955G>T	uc002uos.3	-	3	364	c.280C>A	c.(280-282)Cgg>Agg	p.R94R	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Silent_p.R94R|PDE1A_uc010zfq.1_Silent_p.R94R|PDE1A_uc002uor.3_Silent_p.R78R|PDE1A_uc002uou.3_Silent_p.R60R	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	94					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R94W(6)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AACCAGTCCCGGACTTCAGAT	0.393000														68			30		8.88839e-20	8.93785e-20	1	1	0
LRP2	4036	broad.mit.edu	37	2	170148796	170148796	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170148796C>T	uc002ues.3	-	6	949	c.736G>A	c.(736-738)Gac>Aac	p.D246N	LRP2_uc010zdf.1_Missense_Mutation_p.D246N	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	246	LDL-receptor class A 6.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCTTTACAGTCATCTTCTCCA	0.438000														85			27		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15364970	15364971	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15364970_15364971GG>AA	uc002nar.3	-	10	2372_2373	c.2150_2151CC>TT	c.(2149-2151)tcc>tTT	p.S717F	BRD4_uc002nas.3_Missense_Mutation_p.S717F|BRD4_uc002nat.3_Missense_Mutation_p.S717F	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	717	Ser-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AACCTGTTTCGGAGTCTTCGCT	0.545000			T	C15orf55	lethal midline carcinoma of young people									43			7		0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61156597	61156597	+	Silent	SNP	G	A	A	rs141561710	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61156597G>A	uc002liz.4	+	3	466	c.324G>A	c.(322-324)acG>acA	p.T108T	SERPINB5_uc002liy.2_Silent_p.T108T	NM_002639	NP_002630	P36952	SPB5_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 5 (SERPINB5), mRNA.	108					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TCAGCTCTACGAAGAGACCGT	0.353000														64			8		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81472121	81472121	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81472121G>A	uc001szl.1	+	0	313	c.222G>A	c.(220-222)gaG>gaA	p.E74E	ACSS3_uc001szm.1_Silent_p.E74E	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	74						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CCGACCCCGAGAGGTTCTGGG	0.647000														64			6		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77407037	77407038	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:77407037_77407038GG>AA	uc021sqy.1	-	7	5277_5278	c.4701_4702CC>TT	c.(4699-4704)gacccc>gaTTcc	p.P1568S		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1568	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										AGGATCTCGGGGTCCACCAGAT	0.535000														149			43		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241262032	241262032	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:241262032C>T	uc001hyv.2	-	2	439	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	RGS7_uc010pyh.2_Missense_Mutation_p.E11K|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.E37K|RGS7_uc009xgn.1_Missense_Mutation_p.E37K|RGS7_uc001hyw.2_Missense_Mutation_p.E37K	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	37	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCATTTTTTTCATCTTGCATC	0.348000														37			22		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23912862	23912862	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:23912862G>A	uc001uon.2	-	9	5742	c.5153C>T	c.(5152-5154)tCc>tTc	p.S1718F	SACS_uc001uoo.2_Missense_Mutation_p.S1571F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1718					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGAAGAGCAGGATTTTTTTTT	0.358000														29			40		0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103566713	103566713	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:103566713C>T	uc001ymk.3	+	0	233	c.157C>T	c.(157-159)Ctg>Ttg	p.L53L		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	53										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CCTGGGCTCCCTGAGGCAGGC	0.657000														12			7		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1953695	1953695	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:1953695C>T	uc021qsx.1	-	25	2574	c.2343_splice	c.e25-1	p.R781_splice	CACNA2D4_uc009zds.2_Splice_Site|CACNA2D4_uc009zdt.1_Splice_Site_p.R645_splice|CACNA2D4_uc009zdr.2_Splice_Site	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	781						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCAGGAACTTCCTGCAAGGAG	0.562000														38			8		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926255	1926255	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1926255C>T	uc002qxe.3	-	9	2113	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E	MYT1L_uc002qxd.3_Missense_Mutation_p.G429E|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	429					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGTCAGGTTCCCCTTGGTCAT	0.552000														91			35		0	0	1	0	0
LPPR3	79948	broad.mit.edu	37	19	815761	815761	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:815761C>T	uc002lpw.1	-	2	230	c.166G>A	c.(166-168)Gac>Aac	p.D56N	LPPR3_uc021ulz.1_5'Flank|LPPR3_uc002lpx.1_Missense_Mutation_p.D56N|LPPR3_uc002lpy.1_5'UTR	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 3 (LPPR3), mRNA.	56						integral to membrane	phosphatidate phosphatase activity										AGAGTGCGGTCATAGCACTGG	0.617000														31			7		0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2546536	2546536	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2546536C>T	uc002cql.3	+	1	527	c.387C>T	c.(385-387)tcC>tcT	p.S129S	TBC1D24_uc002cqk.3_Silent_p.S129S|TBC1D24_uc002cqm.3_Silent_p.S129S|TBC1D24_uc010bsm.3_5'Flank	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	129	Rab-GAP TBC.				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CCGACATCTCCTTCTGCCCCG	0.667000														45			21		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408375	29408375	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29408375G>A	uc011dlp.2	+	0	660	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTCGCTTAATGAACTGCAGAT	0.562000														143			71		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64466530	64466530	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:64466530G>A	uc003jtp.3	-	23	3972	c.3158C>T	c.(3157-3159)tCt>tTt	p.S1053F	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	1053	TSP type-1 5.				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)		ACAGTCACTAGATGCCTGTCC	0.453000														53			25		0	0	1	0	0
RAB3IL1	5866	broad.mit.edu	37	11	61672252	61672252	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:61672252G>A	uc001nso.3	-	5	918	c.760C>T	c.(760-762)Ccc>Tcc	p.P254S	RAB3IL1_uc001nsp.3_Missense_Mutation_p.P228S	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	Homo sapiens RAB3A interacting protein (rabin3)-like 1 (RAB3IL1), mRNA.	254							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						TCCAGGCAGGGGCCCACGTCC	0.662000														7			12		0	0	1	0	0
SEC1	653677	broad.mit.edu	37	19	49183689	49183689	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49183689C>T	uc010xzv.2	+	4	836	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	SEC1_uc002pka.3_Missense_Mutation_p.P197S|SEC1_uc010xzw.2_Missense_Mutation_p.P154S|SEC1_uc010ema.3_Missense_Mutation_p.P143S					Homo sapiens secretory blood group 1 (SEC1), non-coding RNA.																		CCGCCACATCCCGGGGCGCTG	0.652000														36			13		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100085	110100085	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110100085C>T	uc003ymz.4	+	0	433	c.344C>T	c.(343-345)tCa>tTa	p.S115L		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	115						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TCCTCTTGTTCAATAACAGCC	0.413000														60			22		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6222303	6222303	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:6222303C>T	uc003mwv.3	-	7	1198	c.1075G>A	c.(1075-1077)Ggg>Agg	p.G359R	F13A1_uc011dib.2_Missense_Mutation_p.G296R	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	359					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCACGTTCCCATCTTCTTCC	0.393000														48			20		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113173432	113173432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113173432C>T	uc010mtz.3	-	36	6896	c.6559G>A	c.(6559-6561)Gaa>Aaa	p.E2187K	SVEP1_uc010mty.3_Missense_Mutation_p.E113K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2187	Sushi 13.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTGTGGCTTCGCAGGTGCTC	0.507000														69			20		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112686832	112686832	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:112686832C>T	uc002thk.1	+	1	319	c.197C>T	c.(196-198)tCa>tTa	p.S66L	MERTK_uc002thl.1_5'UTR|Metazoa_SRP_uc021vmv.1_5'Flank	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	66					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTGATGTTTTCACCAACCCAG	0.557000														40			13		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460402	107460402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:107460402C>T	uc002tdq.3	-	1	151	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	ST6GAL2_uc002tdr.3_Missense_Mutation_p.R11Q|ST6GAL2_uc002tds.3_Missense_Mutation_p.R11Q	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	11					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R11Q(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GAAAAGCATTCGTTGTCTCCA	0.507000														47			23		0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113286461	113286461	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:113286461C>T	uc021xcn.1	+	2	1070	c.419C>T	c.(418-420)cCc>cTc	p.P140L	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.P140L|SIDT1_uc011big.2_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	140						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GAGACGGGACCCTTGCAGCAA	0.493000														153			50		0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44102463	44102463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:44102463G>A	uc003owr.3	+	1	206	c.142G>A	c.(142-144)Gac>Aac	p.D48N	TMEM63B_uc003owq.1_Missense_Mutation_p.D48N|TMEM63B_uc010jyy.1_5'UTR|TMEM63B_uc003ows.3_5'Flank	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	48						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GCTGGCTCTCGACTTCATGTG	0.602000														65			27		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244007	56244007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56244007G>A	uc002qly.3	-	1	1218	c.1190C>T	c.(1189-1191)gCt>gTt	p.A397V		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	397	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGCAGCCAAAGCACACAGGCT	0.453000														127			56		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89381953	89381953	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89381953G>A	uc010upo.1	+	2	504	c.130G>A	c.(130-132)Ggg>Agg	p.G44R	ACAN_uc002bmx.3_Missense_Mutation_p.G44R|ACAN_uc010upp.1_Missense_Mutation_p.G44R|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	44					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)			GGTCCTCCTGGGGACCTCCCT	0.617000														81			83		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605341	171605341	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171605341G>A	uc001ghu.3	-	2	1261	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L	MYOC_uc010pmk.2_Silent_p.L355L	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	413	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGGTTTGTTCGAGTTCCAGAT	0.522000														121			55		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901448	160901448	+	Silent	SNP	G	A	A	rs147284017	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:160901448G>A	uc002ube.2	-	1	542	c.330C>T	c.(328-330)ctC>ctT	p.L110L	PLA2R1_uc010zcp.2_Silent_p.L110L|PLA2R1_uc002ubf.3_Silent_p.L110L	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	110	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTAAGGAAACGAGGGTGGAGT	0.542000														77			28		0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117122238	117122238	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117122238G>A	uc004biq.3	-	8	2364	c.2229C>T	c.(2227-2229)ccC>ccT	p.P743P	AKNA_uc004bin.3_5'UTR|AKNA_uc004bio.3_Silent_p.P203P|AKNA_uc004bip.3_Silent_p.P662P|AKNA_uc004bir.3_Silent_p.P743P|AKNA_uc004bis.3_Silent_p.P743P|AKNA_uc010mve.2_Silent_p.P624P|AKNA_uc004biu.1_Silent_p.P484P|AKNA_uc004biv.1_Silent_p.P743P	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	743					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTCGGGCCAGGGGGTCCTGTG	0.632000														37			21		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153077667	153077667	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:153077667G>A	uc011dcy.2	+	8	1255	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	GRIA1_uc003lva.4_Missense_Mutation_p.D400N|GRIA1_uc003luy.4_Missense_Mutation_p.D400N|GRIA1_uc003luz.4_Missense_Mutation_p.D305N|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.D320N|GRIA1_uc011dcx.2_Missense_Mutation_p.D331N|GRIA1_uc011dcz.2_Missense_Mutation_p.D410N|GRIA1_uc010jia.1_Missense_Mutation_p.D380N	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	400					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGCTGGGGGCGATAATTCAAG	0.478000														46			16		0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101086823	101086823	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:101086823G>A	uc003dut.3	-	7	940	c.829C>T	c.(829-831)Ctc>Ttc	p.L277F	SENP7_uc003duu.3_Missense_Mutation_p.L212F|SENP7_uc003duv.3_Missense_Mutation_p.L244F|SENP7_uc003duw.3_Missense_Mutation_p.L211F|SENP7_uc003dux.3_Missense_Mutation_p.L113F	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	277					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCCTGTTCGAGATGATCACAA	0.338000														88			28		0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21564648	21564648	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:21564648G>A	uc001bek.2	-	10	1443	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F	ECE1_uc001bem.2_Silent_p.F440F|ECE1_uc001bej.2_Silent_p.F444F|ECE1_uc001bei.2_Silent_p.F453F|ECE1_uc010odl.1_Silent_p.F456F|ECE1_uc009vqa.1_Silent_p.F456F	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	456					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TGTCCTCGGCGAAGGTTGCTT	0.542000														58			23		0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92484090	92484090	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:92484090G>A	uc001xzy.3	-	4	967	c.593C>T	c.(592-594)tCc>tTc	p.S198F	TRIP11_uc010auf.2_5'Flank	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	198					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGTGCTTTGGAAGTCTAGAT	0.284000			T	PDGFRB	AML									46			10		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45388060	45388060	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45388060G>A	uc001zun.3	-	29	4249	c.4046C>T	c.(4045-4047)tCc>tTc	p.S1349F	DUOX2_uc010bea.3_Missense_Mutation_p.S1349F	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1349	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCCCTTTGGGGATGAGTAGAT	0.632000														47			7		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848833	54848833	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54848833G>A	uc002qfj.3	-	4	847	c.790C>T	c.(790-792)Ccc>Tcc	p.P264S	LILRA4_uc002qfi.3_Missense_Mutation_p.P198S	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	264	Ig-like C2-type 3.					integral to membrane	receptor activity	p.L263L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGGCGCTGGGGGAGGCCATCG	0.662000														24			21		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96792160	96792160	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:96792160G>A	uc001yfi.3	-	14	2628	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	755										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATTGGGAAGCGAACAGAAAGG	0.413000														103			11		0	0	1	0	0
SLC1A3	6507	broad.mit.edu	37	5	36679919	36679919	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:36679919G>A	uc003jkj.4	+	6	1527	c.1051G>A	c.(1051-1053)Ggg>Agg	p.G351R	SLC1A3_uc011cox.2_Missense_Mutation_p.G244R|SLC1A3_uc010iuy.3_Missense_Mutation_p.G351R	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	351					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TTTTATTGGAGGGTTGCTGCA	0.483000														58			30		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179497989	179497989	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179497989G>A	uc021vsy.1	-	181	35532	c.35307C>T	c.(35305-35307)caC>caT	p.H11769H	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.H5464H|TTN_uc021vta.1_Silent_p.H5397H|TTN_uc021vtb.1_Silent_p.H5272H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12696	Glu-rich.|Pro-rich.						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)			CAATTTCAAAGTGGGCTGTTT	0.413000														79			49		0	0	1	0	0
PA2G4	5036	broad.mit.edu	37	12	56504387	56504387	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56504387C>T	uc001sjm.3	+	8	1172	c.753C>T	c.(751-753)ccC>ccT	p.P251P		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	251					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AACGAGACCCCTCTAAACAGT	0.433000														66			29		0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66358116	66358116	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66358116C>G	uc001oiq.4	-	0	2439	c.2371G>C	c.(2371-2373)Gag>Cag	p.E791Q	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	791										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AAGATTAACTCTATCTCCTCC	0.517000														162			64		0	0	1	0	0
DEPTOR	64798	broad.mit.edu	37	8	121013894	121013894	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:121013894C>T	uc003yow.4	+	4	922	c.735C>T	c.(733-735)ccC>ccT	p.P245P	DEPTOR_uc011lid.2_Silent_p.P144P	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	Homo sapiens DEP domain containing MTOR-interacting protein (DEPTOR), mRNA.	245	Ser-rich.				intracellular signal transduction|negative regulation of TOR signaling cascade|negative regulation of cell size|negative regulation of protein kinase activity|regulation of apoptosis	intracellular	protein binding	p.P245A(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						ATGACAGTCCCTTCTGCCTGA	0.493000														60			15		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61945235	61945235	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61945235G>A	uc011aau.2	+	17	2450	c.2350G>A	c.(2350-2352)Gag>Aag	p.E784K	COL20A1_uc011aav.2_Missense_Mutation_p.E605K	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	784	Fibronectin type-III 6.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTTGGGACCCGAGAAATCCGT	0.672000														32			4		0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954982	12954982	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12954982G>A	uc001auo.3	-	2	374	c.301C>T	c.(301-303)Caa>Taa	p.Q101*		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	101										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGCACTTGAAGTTTCCAC	0.527000														316			50		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687295	27687295	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:27687295G>A	uc001itu.2	-	3	2350	c.2232C>T	c.(2230-2232)atC>atT	p.I744I		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	744					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGGAAGAAATGATTTCATTTG	0.308000														42			16		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925570	54925570	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54925570C>T	uc001sgc.4	+	24	2821	c.2742C>T	c.(2740-2742)atC>atT	p.I914I	NCKAP1L_uc010sox.2_Silent_p.I456I|NCKAP1L_uc010soy.2_Silent_p.I864I	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	914					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTGGGGTTATCCTCAGTTTCA	0.493000														48			20		0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032408	30032408	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:30032408C>T	uc021qfi.1	-	0	1818	c.1818G>A	c.(1816-1818)ggG>ggA	p.G606G	KCNA4_uc001msk.3_Silent_p.G606G	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	606						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CTGACTTGTCCCCCAGGGAAG	0.468000														57			29		0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134617988	134617989	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:134617988_134617989CC>TT	uc003vrz.3	+	4	934_935	c.468_469CC>TT	c.(466-471)cgccaa>cgTTaa	p.Q157*	CALD1_uc003vry.3_Nonsense_Mutation_p.Q157*|CALD1_uc003vsb.3_Nonsense_Mutation_p.Q157*|CALD1_uc011kpt.2_5'UTR|CALD1_uc010lmm.3_Nonsense_Mutation_p.Q157*|CALD1_uc003vsc.3_Nonsense_Mutation_p.Q151*|CALD1_uc003vsd.3_Nonsense_Mutation_p.Q151*|CALD1_uc011kpu.2_Nonsense_Mutation_p.Q162*|CALD1_uc011kpv.2_Nonsense_Mutation_p.Q21*|CALD1_uc003vse.3_Nonsense_Mutation_p.Q21*	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	157	Myosin and calmodulin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GTGAAAGTCGCCAAGAAAGATA	0.406000														20			9		0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621331	144621331	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144621331G>A	uc003yyd.2	-	1	235	c.206C>T	c.(205-207)tCg>tTg	p.S69L		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	69					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTTGCGCCACGAAGGCCCATG	0.672000														99			32		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107732116	107732116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107732116G>A	uc010ljo.1	-	13	1740	c.1656C>T	c.(1654-1656)ctC>ctT	p.L552L	LAMB4_uc003vey.2_Silent_p.L552L	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	552	Laminin EGF-like 5; truncated.|Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGCCTCGTAGAGATAGAAAT	0.493000														90			32		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488194	24488194	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:24488194C>T	uc003jgr.2	-	11	2451	c.1945G>A	c.(1945-1947)Gat>Aat	p.D649N	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	649					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		TCTCTGATATCTTCTTTTGAC	0.433000										HNSCC(23;0.051)				87			18		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911020	230911020	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:230911020C>T	uc002vqd.2	-	3	1281	c.822G>A	c.(820-822)agG>agA	p.R274R	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.R274R|SLC16A14_uc002vqf.3_Silent_p.R274R	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	274						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ACATGTTCTTCCTGTGCCCGG	0.592000														92			42		0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151128379	151128379	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151128379G>A	uc004ffi.3	-	5	770	c.716C>T	c.(715-717)tCc>tTc	p.S239F	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	239					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCTTCCAGGAGTTCTTCTC	0.433000														39			32		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55569295	55569295	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:55569295C>T	uc021pqv.1	-	34	4593	c.4565G>A	c.(4564-4566)aGa>aAa	p.R1522K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqw.1_Silent_p.K1508K|PCDH15_uc010qht.2_Silent_p.K1503K|PCDH15_uc021pqx.1_Missense_Mutation_p.R1520K	NM_001142770	NP_001136242	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant J, mRNA.	0					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)				TTTTAATTTTCTTTGGCTCTT	0.403000										HNSCC(58;0.16)				231			45		0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212180634	212180634	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:212180634G>A	uc001hiw.2	-	5	937	c.714C>T	c.(712-714)ttC>ttT	p.F238F	INTS7_uc001hix.2_Silent_p.F114F|INTS7_uc009xdb.2_Silent_p.F238F|INTS7_uc001hiy.2_Silent_p.F238F|INTS7_uc010pta.2_Silent_p.F189F	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	Homo sapiens integrator complex subunit 7 (INTS7), transcript variant 1, mRNA.	238					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CAAGCAGAGTGAAAGTGTGCA	0.398000														42			22		0	0	1	0	0
GM2A	2760	broad.mit.edu	37	5	150646957	150646957	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:150646957G>A	uc003ltr.4	+	3	692	c.527G>A	c.(526-528)aGc>aAc	p.S176N	GM2A_uc011dcr.2_Intron	NM_000405	NP_000396	P17900	SAP3_HUMAN	Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 1, mRNA.	176						lysosome|nucleolus	sphingolipid activator protein activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCCTGAGCAGCAGTGGGAAG	0.577000														51			12		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240611	3240611	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:3240611C>T	uc004crg.4	-	4	3272	c.3115G>A	c.(3115-3117)Gac>Aac	p.D1039N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1039						extracellular region				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)				TGGATGTTGTCTGTCAGTCCT	0.428000														38			68		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47675066	47675066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:47675066C>T	uc003oyz.1	+	2	256	c.256C>T	c.(256-258)Cac>Tac	p.H86Y	GPR115_uc003oza.1_Missense_Mutation_p.H29Y|GPR115_uc003ozb.1_Missense_Mutation_p.H29Y	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	29					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ATCCAAGATTCACCTAAAAGT	0.383000														100			8		0	0	1	0	0
TMEM44	93109	broad.mit.edu	37	3	194344019	194344019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:194344019G>A	uc010hzn.3	-	4	752	c.546C>T	c.(544-546)ggC>ggT	p.G182G	TMEM44_uc003fuf.3_Silent_p.G182G|TMEM44_uc003fue.3_Silent_p.G182G|TMEM44_uc011bsv.2_Silent_p.G182G|TMEM44_uc003fuh.1_Non-coding_Transcript	NM_001166305	NP_001159777	Q2T9K0	TMM44_HUMAN	Homo sapiens transmembrane protein 44 (TMEM44), transcript variant 3, mRNA.	182						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CCAGCAGGTAGCCGAGGATCT	0.577000														9			7		0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47981665	47981665	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:47981665C>T	uc002zjo.2	+	33	4219	c.4036C>T	c.(4036-4038)Cgt>Tgt	p.R1346C	DIP2A_uc011afz.1_Missense_Mutation_p.R1342C|DIP2A_uc002zjs.2_Missense_Mutation_p.R26C|DIP2A_uc002zjt.2_5'Flank	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1346					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TTTTAGGGTTCGTTTGGTAGA	0.458000														130			33		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28497335	28497335	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28497335C>T	uc003nll.2	+	1	197	c.195C>T	c.(193-195)ctC>ctT	p.L65L	GPX5_uc003nlm.2_Silent_p.L65L|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	65					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	p.L65H(1)		endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	AGCACATCCTCTTCGTCAACG	0.438000														68			37		0	0	1	0	0
AGMAT	79814	broad.mit.edu	37	1	15909693	15909693	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:15909693G>A	uc001awv.2	-	1	613	c.470C>T	c.(469-471)aCc>aTc	p.T157I	DNAJC16_uc001awu.3_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.	157					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		ATTACCCAAGGTCAGAGGAAT	0.493000														43			15		0	0	1	0	0
SWAP70	23075	broad.mit.edu	37	11	9715787	9715787	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:9715787C>T	uc001mhw.3	+	1	293	c.194C>T	c.(193-195)tCc>tTc	p.S65F	SWAP70_uc001mhv.3_Missense_Mutation_p.S65F|SWAP70_uc001mhx.3_Missense_Mutation_p.S65F	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN	Homo sapiens SWAP switching B-cell complex 70kDa subunit (SWAP70), mRNA.	65						cytoplasm|lamellipodium|nucleus|plasma membrane	DNA binding|calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GGTCCAGTGTCCAACCAGGGC	0.453000														107			25		0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142586786	142586786	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:142586786C>T	uc011dbj.2	+	20	2047	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	ARHGAP26_uc003lmt.3_Missense_Mutation_p.S671L|ARHGAP26_uc003lmw.3_Intron	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	671	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCAACTTCACCCCTCTCG	0.592000														114			33		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129122724	129122724	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:129122724C>T	uc011koy.2	+	19	2131	c.2091C>T	c.(2089-2091)gcC>gcT	p.A697A	FAM40B_uc003vow.3_Silent_p.A697A|FAM40B_uc011koz.2_Silent_p.A189A	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	697								p.R696W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TAAAGCGGGCCCTCAAGGTCA	0.443000														90			34		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340705	121340705	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121340705G>A	uc003eeg.2	+	2	639	c.429G>A	c.(427-429)atG>atA	p.M143I		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	143					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CCTTGAAAATGGTGGAACTTT	0.507000														34			11		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139155304	139155304	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:139155304C>T	uc003yuy.3	-	15	3760	c.3589G>A	c.(3589-3591)Gaa>Aaa	p.E1197K	FAM135B_uc003yux.3_Missense_Mutation_p.E1098K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E759K|FAM135B_uc003yvb.3_3'UTR	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1197										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)			TGAATGATTTCATCCAATAAC	0.458000										HNSCC(54;0.14)				60			6		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331606	70331606	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70331606G>A	uc001oqc.3	-	20	4706	c.4594C>T	c.(4594-4596)Cag>Tag	p.Q1532*	SHANK2_uc010rqn.2_Nonsense_Mutation_p.Q1008*|SHANK2_uc001opz.3_Nonsense_Mutation_p.Q1003*|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1219					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTCCTTGGCTGGAGAACCTTG	0.577000														108			34		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834479	125834479	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:125834479G>A	uc001uhe.1	+	1	542	c.534G>A	c.(532-534)ggG>ggA	p.G178G	TMEM132B_uc021rgl.1_Silent_p.G68G	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	178						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)		GGCTGCAAGGGGCCCCAGGGC	0.627000														73			26		0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57148260	57148260	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:57148260G>A	uc002iwy.4	-	8	1177	c.733C>T	c.(733-735)Ctt>Ttt	p.L245F	TRIM37_uc002iwz.4_Missense_Mutation_p.L245F|TRIM37_uc002ixa.4_Missense_Mutation_p.L123F|TRIM37_uc010woc.2_Missense_Mutation_p.L211F	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	245						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AACATCATAAGGATCTCTGAG	0.388000									Mulibrey Nanism					70			25		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137716508	137716508	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:137716508C>T	uc004cfe.3	+	61	5143	c.4761C>T	c.(4759-4761)atC>atT	p.I1587I	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1587	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGCGGAACATCGACGCCAGCC	0.642000														41			13		0	0	1	0	0
NXT1	29107	broad.mit.edu	37	20	23334836	23334836	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:23334836C>T	uc021wbj.1	+	0	158	c.158C>T	c.(157-159)tCa>tTa	p.S53L	NXT1_uc002wsx.1_Missense_Mutation_p.S53L	NM_013248	NP_037380	Q9UKK6	NXT1_HUMAN	Homo sapiens NTF2-like export factor 1 (NXT1), mRNA.	53	NTF2.					cytoplasm|nuclear pore				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AATGCTGTTTCAGGACAAGAA	0.507000														55			29		0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166785697	166785697	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166785697G>A	uc002udk.3	-	10	1467	c.1334C>T	c.(1333-1335)cCt>cTt	p.P445L	TTC21B_uc002udl.3_Missense_Mutation_p.P445L	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	445						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CAAGAAATCAGGATTTAGCTT	0.343000														49			18		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63059015	63059015	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63059015G>A	uc009yor.3	+	1	614	c.406G>A	c.(406-408)Gac>Aac	p.D136N	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.D84N	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	136						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTCCAGTGGGACCTGGTATG	0.463000														45			16		0	0	1	0	0
MYEOV2	150678	broad.mit.edu	37	2	241069402	241069402	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241069402G>A	uc002vyu.1	-	3	307	c.307C>T	c.(307-309)Ccc>Tcc	p.P103S		NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TGCAGTGCGGGAACCATGGAG	0.602000														47			20		0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839623	15839623	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15839623C>T	uc002nbm.2	+	0	790	c.770C>T	c.(769-771)tCt>tTt	p.S257F		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GGCTTTGCCTCTGTCATCTAC	0.562000														111			29		0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41564759	41564759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:41564759C>T	uc003azl.4	+	24	4455	c.4060C>T	c.(4060-4062)Cca>Tca	p.P1354S		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1354					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGAATCCTTTCCATACCGAAC	0.458000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					87			21		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1258015	1258015	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1258015C>T	uc002cks.3	+	15	3405	c.3157C>T	c.(3157-3159)Ctg>Ttg	p.L1053L	CACNA1H_uc002ckt.3_Silent_p.L1053L|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1053					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)	TCCCGCAGAGCTGAAGATGTG	0.667000														9			5		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186673345	186673345	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:186673345G>A	uc002upl.3	+	16	19579	c.19579G>A	c.(19579-19581)Gaa>Aaa	p.E6527K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.									p.E1136K(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AACCAACAAAGAATTTTATTA	0.303000														30			6		0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606746	55606746	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55606746C>T	uc010rio.2	+	0	519	c.519C>T	c.(517-519)ttC>ttT	p.F173F		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G172C(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTCATGGTTTCAACACAATCA	0.438000														63			8		0	0	1	0	0
HMGCR	3156	broad.mit.edu	37	5	74643088	74643088	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:74643088C>T	uc011cst.2	+	5	822	c.570C>T	c.(568-570)ctC>ctT	p.L190L	HMGCR_uc003kdp.3_Silent_p.L170L|HMGCR_uc003kdq.3_Silent_p.L170L|HMGCR_uc010izn.1_Silent_p.L10L	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	170					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CGTTTACCCTCGATGCTCTTG	0.378000														225			92		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104709366	104709366	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:104709366G>A	uc003ylp.3	+	1	368	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.	108	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)			GAAGATGGGAGAAGAATCACA	0.403000										HNSCC(12;0.0054)				58			21		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234581300	234581300	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234581300G>A	uc002vus.3	+	0	757	c.720G>A	c.(718-720)acG>acA	p.T240T	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Silent_p.T240T	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	243					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CACCTGTTACGGAGTATGATC	0.428000														445			171		0	0	1	0	0
KIF3A	11127	broad.mit.edu	37	5	132062122	132062122	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:132062122G>A	uc011cxf.2	-	2	503	c.349C>T	c.(349-351)Cct>Tct	p.P117S	KIF3A_uc003kxn.3_Missense_Mutation_p.P76S|KIF3A_uc003kxo.3_Missense_Mutation_p.P117S|KIF3A_uc003kxp.3_Missense_Mutation_p.P117S	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	Homo sapiens kinesin family member 3A (KIF3A), mRNA.	117	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTAAGTTCAGGAATAGCTCGA	0.368000														111			36		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54803193	54803193	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54803193C>T	uc002qfd.3	-	3	576	c.484G>A	c.(484-486)Gat>Aat	p.D162N	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	161	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGTGTTCATCTTCTCCTTCC	0.577000														105			68		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111748180	111748180	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:111748180G>C	uc001tsa.2	+	14	1748	c.1594G>C	c.(1594-1596)Ggt>Cgt	p.G532R		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	532	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCACTGGGCGGTCCTGAGCC	0.741000														20			3		0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37710234	37710234	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:37710234C>T	uc002yvi.3	+	3	526	c.450C>T	c.(448-450)ttC>ttT	p.F150F	MORC3_uc021wiz.1_5'Flank	NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	150					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	PML body|aggresome|intermediate filament cytoskeleton	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TAGTGGCATTCAACAAGCACC	0.378000														116			53		0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141888927	141888927	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:141888927G>A	uc003iio.1	-	1	1239	c.585C>T	c.(583-585)atC>atT	p.I195I	RNF150_uc010iok.1_Silent_p.I195I|RNF150_uc003iip.1_Silent_p.I195I	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	195						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TCCGGGTTCCGATGGTGATGT	0.478000														162			55		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139221945	139221945	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:139221945C>T	uc003leu.1	+	14	2407	c.2202C>T	c.(2200-2202)gcC>gcT	p.A734A		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	734					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)			CCCGGCTGGCCACTCTGGAAG	0.552000														61			22		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808137	48808137	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:48808137C>T	uc002rwp.2	+	1	479	c.365C>T	c.(364-366)tCc>tTc	p.S122F	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.S122F|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.S122F|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.S122F|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.S122F	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	122					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGAGAATCTTCCTTACTGCCT	0.473000														53			32		0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94746701	94746701	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:94746701G>A	uc022aye.1	-	0	1938	c.1938C>T	c.(1936-1938)ctC>ctT	p.L646L	RBM12B_uc003yfz.3_Silent_p.L646L	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	646							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTCCTCGGGGAGCTGCCTGA	0.647000														146			26		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99724046	99724046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:99724046C>T	uc001yga.3	-	1	456	c.189G>A	c.(187-189)atG>atA	p.M63I	BCL11B_uc001ygb.3_Missense_Mutation_p.M63I	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	63						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		AGGGGAAGTTCATTTGACACT	0.577000			T	TLX3	T-ALL									56			27		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177247899	177247899	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:177247899C>T	uc001glf.3	+	6	1525	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	FAM5B_uc010pna.1_Missense_Mutation_p.R155C|FAM5B_uc001glg.3_Missense_Mutation_p.R300C	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	405						extracellular region		p.P404P(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						TCGCCAGCCTCGCTTCCGCCT	0.617000														65			21		0	0	1	0	0
WARS	7453	broad.mit.edu	37	14	100813129	100813129	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:100813129G>A	uc001yhh.1	-	6	1161	c.780C>T	c.(778-780)ttC>ttT	p.F260F	WARS_uc001yhi.1_Silent_p.F219F|WARS_uc001yhg.2_Silent_p.F260F|WARS_uc001yhl.1_Silent_p.F260F|WARS_uc001yhk.1_Silent_p.F219F	NM_004184	NP_998811	P23381	SYWC_HUMAN	Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	260					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TCACTTGGTTGAAGGTAACAT	0.488000														72			14		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832813	130832813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:130832813C>T	uc010fmh.2	-	16	2632	c.2232G>A	c.(2230-2232)atG>atA	p.M744I		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	744	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCATGCCCCCCATCATGCCCT	0.622000														77			39		0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203194880	203194880	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203194880G>A	uc001gzn.2	-	2	270	c.174C>T	c.(172-174)ttC>ttT	p.F58F	CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Silent_p.F68F	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	58					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCATGCCAGCGAAGGCGTAGA	0.572000														84			7		0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61958450	61958450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61958450G>A	uc002jcl.1	-	2	292	c.230C>T	c.(229-231)tCc>tTc	p.S77F	GH2_uc002jcn.1_Missense_Mutation_p.S62F|GH2_uc002jco.1_Missense_Mutation_p.S77F|GH2_uc002jcm.1_Missense_Mutation_p.S77F	NM_022557	NP_072051	P01242	SOM2_HUMAN	Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA.	77						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GAAGCAGAGGGAGGTCTGGGG	0.532000														285			108		0	0	1	0	0
C22orf25	128989	broad.mit.edu	37	22	20049180	20049180	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:20049180C>T	uc002zrg.2	+	6	883	c.702C>T	c.(700-702)ctC>ctT	p.L234L	C22orf25_uc010grw.2_Silent_p.L193L|C22orf25_uc002zrc.1_Silent_p.L193L|C22orf25_uc011ahg.1_Intron|C22orf25_uc011ahh.1_Silent_p.L193L|C22orf25_uc011ahi.1_Silent_p.L95L|C22orf25_uc002zrf.2_Silent_p.L131L|C22orf25_uc011ahf.1_Intron|C22orf25_uc011ahe.1_Intron|C22orf25_uc010gry.1_Intron	NM_152906	NP_690870	Q6ICL3	CV025_HUMAN	Homo sapiens chromosome 22 open reading frame 25 (C22orf25), mRNA.	193										breast(2)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)	10	Colorectal(54;0.0533)					TCGCCAGCCTCCTGGATGTGC	0.642000														8			3		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6125769	6125769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6125769C>T	uc001qnn.1	-	29	5474	c.5224G>A	c.(5224-5226)Gac>Aac	p.D1742N	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1742	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CATGGCACGTCAATGGTGGTG	0.542000														49			30		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58583660	58583660	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:58583660T>G	uc002env.3	-	24	3778	c.3485A>C	c.(3484-3486)aAc>aCc	p.N1162T	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.N1157T|CNOT1_uc002enx.3_Missense_Mutation_p.N1162T|CNOT1_uc002enz.1_Missense_Mutation_p.N591T|CNOT1_uc010vik.2_Missense_Mutation_p.N158T|SNORA46_uc002eny.1_5'Flank	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1162					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AACCATCTTGTTAAATTCAGG	0.328000														108			39		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43243749	43243749	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:43243749G>A	uc002lbe.3	+	11	2168	c.1352_splice	c.e11-1	p.G451_splice	SLC14A2_uc010dnj.3_Splice_Site_p.G451_splice	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	451						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCCTGGCTAGGAGGCGGTGG	0.582000														32			17		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752519	19752519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19752519C>T	uc009zzj.3	-	2	347	c.242G>A	c.(241-243)gGa>gAa	p.G81E		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	81					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCTATAGGTTCCTGTGCGCAC	0.488000														79			31		0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55043987	55043987	+	RNA	SNP	C	T	T	rs144980151	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55043987C>T	uc010yfa.1	+	0		c.79C>T			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		AGCTCAACCCCTGTGTCCTGC	0.522000														137			33		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26663466	26663466	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:26663466G>A	uc001mqt.4	+	21	2310	c.2165G>A	c.(2164-2166)cGa>cAa	p.R722Q	ANO3_uc010rdr.2_Missense_Mutation_p.R706Q|ANO3_uc010rds.2_Missense_Mutation_p.R561Q|ANO3_uc010rdt.2_Missense_Mutation_p.R576Q	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	722						chloride channel complex	chloride channel activity	p.R722Q(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGGTGGTCACGACATAAAATC	0.428000														88			22		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17107960	17107960	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17107960C>T	uc002nfb.3	-	10	1229	c.1197G>A	c.(1195-1197)acG>acA	p.T399T		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	352						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACTGCTTCCTCGTGTCCTTGG	0.637000														40			24		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284387	52284387	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52284387G>A	uc001rzd.3	+	4	835	c.657G>A	c.(655-657)gtG>gtA	p.V219V	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Silent_p.V94V|ANKRD33_uc001rze.3_Silent_p.V115V|ANKRD33_uc001rzg.4_Silent_p.V21V|ANKRD33_uc001rzi.4_Silent_p.V94V	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	94										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TGACAGCAGTGGACCCTGTTC	0.617000														16			8		0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141645147	141645147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141645147C>T	uc003vwv.1	-	2	330	c.133G>A	c.(133-135)Gga>Aga	p.G45R	CLEC5A_uc011krm.1_Missense_Mutation_p.G45R|CLEC5A_uc003vww.1_Missense_Mutation_p.G45R|CLEC5A_uc010lnq.1_Missense_Mutation_p.G45R|CLEC5A_uc010lnr.1_Non-coding_Transcript	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	45					anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TTACCTGTTCCATAGCTCCTG	0.458000														59			39		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770069	38770069	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38770069G>A	uc003ciq.3	-	14	2604	c.2604C>T	c.(2602-2604)atC>atT	p.I868I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	868					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCAAGAAAAGGATGAGGCATA	0.517000														46			19		0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43026203	43026203	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43026203C>T	uc002otv.3	-	2	711	c.576G>A	c.(574-576)caG>caA	p.Q192Q	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Non-coding_Transcript|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eii.3_5'Flank|CEACAM1_uc010eij.3_Silent_p.Q192Q|CEACAM1_uc002otw.3_Silent_p.Q192Q|CEACAM1_uc002otx.3_Silent_p.Q192Q|CEACAM1_uc002oty.3_Silent_p.Q192Q|CEACAM1_uc002otz.3_Silent_p.Q192Q|CEACAM1_uc010eik.3_Intron|CEACAM1_uc002oua.3_Silent_p.Q192Q|CEACAM1_uc002oub.3_Silent_p.Q192Q|CEACAM1_uc002ouc.3_Silent_p.Q192Q	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	192	Ig-like C2-type 1.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CATTGGACAGCTGCAGCCTGG	0.532000														264			60		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200967555	200967555	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:200967555G>A	uc001gvs.2	-	13	2351	c.2034C>T	c.(2032-2034)atC>atT	p.I678I	KIF21B_uc009wzl.2_Silent_p.I678I|KIF21B_uc001gvr.2_Silent_p.I678I|KIF21B_uc010ppn.2_Silent_p.I678I	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	678					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTGTGTCTCGGATCTTGTTCT	0.602000														116			35		0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18828563	18828563	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:18828563G>A	uc001ipr.2	+	13	1953	c.1893G>A	c.(1891-1893)aaG>aaA	p.K631K	CACNB2_uc001ipt.2_Silent_p.K593K|CACNB2_uc009xjz.1_Silent_p.K381K|CACNB2_uc001ips.2_Silent_p.K607K|CACNB2_uc001ipu.3_Silent_p.K603K|CACNB2_uc001ipv.3_Silent_p.K579K|CACNB2_uc009xka.2_Silent_p.K565K|CACNB2_uc001ipw.2_Silent_p.K538K|CACNB2_uc001ipx.2_Silent_p.K576K|CACNB2_uc001ipz.2_Silent_p.K553K|CACNB2_uc001ipy.2_Silent_p.K577K|CACNB2_uc010qco.1_Silent_p.K545K|CACNB2_uc001iqa.2_Silent_p.K583K|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	631					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATAAATCCAAGGATCGCTACT	0.537000														84			9		0	0	1	0	0
FMR1	2332	broad.mit.edu	37	X	147026416	147026416	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:147026416C>T	uc010nst.3	+	14	1728	c.1499C>T	c.(1498-1500)tCt>tTt	p.S500F	FMR1_uc004fcj.3_Missense_Mutation_p.S477F|FMR1_uc022cgc.1_Intron|FMR1_uc022cgd.1_Non-coding_Transcript|FMR1_uc004fck.4_Intron|FMR1_uc022cge.1_Missense_Mutation_p.S479F|FMR1_uc022cgf.1_Intron|FMR1_uc022cgg.1_Non-coding_Transcript|FMR1_uc004fcl.4_Missense_Mutation_p.S340F|FMR1_uc011mxa.2_Missense_Mutation_p.S147F	NM_002024	NP_002015	Q06787	FMR1_HUMAN	Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA.	500	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAATGCTTCTGAAACAGAA	0.428000									Fragile X syndrome					23			4		0	0	1	0	0
GJB6	10804	broad.mit.edu	37	13	20797319	20797319	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:20797319C>T	uc001und.4	-	2	688	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	GJB6_uc001umz.4_Missense_Mutation_p.E101K|GJB6_uc001unb.4_Missense_Mutation_p.E101K|GJB6_uc001unc.4_Missense_Mutation_p.E101K|GJB6_uc001una.4_Missense_Mutation_p.E101K|GJB6_uc021rhb.1_Missense_Mutation_p.E101K	NM_001110221	NP_006774	O95452	CXB6_HUMAN	Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA.	101					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle		p.H100Q(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		CGAGTGGTTTCGTGCCTGTAG	0.552000														41			12		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168111061	168111061	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:168111061C>T	uc010jjg.3	-	31	4037	c.3617G>A	c.(3616-3618)gGa>gAa	p.G1206E	SLIT3_uc003mab.3_Missense_Mutation_p.G1199E	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1199	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATTGTCTCCTTTGTAGAG	0.582000														64			14		0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69095234	69095234	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69095234C>T	uc003hdw.4	-	8	823	c.687_splice	c.e8-1	p.K229_splice		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	229	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AATTATTTTTCCTAGAGGACA	0.323000														56			16		0	0	1	0	0
TSPAN18	90139	broad.mit.edu	37	11	44948236	44948236	+	Silent	SNP	G	A	A	rs149091051	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:44948236G>A	uc001myg.3	+	5	637	c.627G>A	c.(625-627)acG>acA	p.T209T	TSPAN18_uc001mye.4_Silent_p.T209T|TP53I11_uc001myf.1_Intron	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	Homo sapiens tetraspanin 18 (TSPAN18), mRNA.	209						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						GCTGTTACACGGTGATCCTCA	0.587000											OREG0020922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		123			22		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262101	1262101	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1262101G>A	uc002cks.3	+	24	4970	c.4722G>A	c.(4720-4722)gaG>gaA	p.E1574E	CACNA1H_uc002ckt.3_Silent_p.E1574E|CACNA1H_uc002cku.3_Silent_p.E280E|CACNA1H_uc010brj.3_Silent_p.E280E|CACNA1H_uc002ckv.3_Silent_p.E280E	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1574					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)	GGCGGCGAGAGGAGAAGCGGC	0.692000														82			13		0	0	1	0	0
MAPK6	5597	broad.mit.edu	37	15	52356461	52356461	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:52356461C>T	uc002abp.3	+	5	2224	c.1430C>T	c.(1429-1431)tCc>tTc	p.S477F		NM_002748	NP_002739	Q16659	MK06_HUMAN	Homo sapiens mitogen-activated protein kinase 6 (MAPK6), mRNA.	477					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		ATAGATCTTTCCAATTGGAAA	0.348000														35			9		0	0	1	0	0
CLEC4D	338339	broad.mit.edu	37	12	8673861	8673861	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8673861G>A	uc001qun.3	+	5	835	c.642G>A	c.(640-642)ttG>ttA	p.L214L		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA.	214					innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GAACAACATTGAACTAGAAAC	0.363000														50			28		0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179520386	179520386	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179520386C>T	uc001gmq.4	-	7	1159	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	AXDND1_uc001gmo.3_Intron|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Intron|AXDND1_uc009wxh.3_Intron|NPHS2_uc009wxi.3_Silent_p.Q290Q|AXDND1_uc001gmr.3_Non-coding_Transcript	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	358					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GGAGGCTTCCCTGAGTTCTGT	0.478000														92			34		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117696924	117696924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117696924C>T	uc001twn.2	-	14	3090	c.2379G>A	c.(2377-2379)atG>atA	p.M793I	NOS1_uc021ren.1_Missense_Mutation_p.M457I|NOS1_uc021reo.1_Missense_Mutation_p.M457I|NOS1_uc001twm.2_Missense_Mutation_p.M793I	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	793	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CATATTCTTCCATGGACATCA	0.522000														41			12		0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53925647	53925647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:53925647C>T	uc001cvq.1	+	0	576	c.521C>T	c.(520-522)cCc>cTc	p.P174L		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	174	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						TACCCTGGCCCCCTAGACCTG	0.716000														12			3		0	0	1	0	0
B3GNT6	192134	broad.mit.edu	37	11	76750727	76750727	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:76750727G>A	uc021qnq.1	+	0	132	c.132G>A	c.(130-132)caG>caA	p.Q44Q	B3GNT6_uc021qnp.1_Silent_p.Q44Q			Q6ZMB0	B3GN6_HUMAN	SubName: Full=Uncharacterized protein;	44					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GGTCCCCGCAGGAGGAGACGC	0.716000											OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			14		0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47841689	47841689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:47841689G>A	uc002xuh.3	+	5	707	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	216						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCAGTACGATGAAAACCTCTC	0.418000														120			37		0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116605816	116605816	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:116605816C>T	uc001lcb.3	+	8	1508	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	FAM160B1_uc001lcc.3_Silent_p.F391F	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	391										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						AAAGATTTTTCATTGGTGTTA	0.338000														213			51		0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48230567	48230567	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:48230567G>A	uc003gxz.3	-	1	156	c.65C>T	c.(64-66)tCg>tTg	p.S22L		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	22	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GTTTAAGGGCGATGTCTTCTT	0.388000														85			46		0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28841284	28841284	+	Silent	SNP	C	T	T	rs145751891		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:28841284C>T	uc002dqy.3	+	7	1106	c.939C>T	c.(937-939)atC>atT	p.I313I	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Silent_p.I313I|ATXN2L_uc002dqz.3_Silent_p.I313I|ATXN2L_uc002dra.3_Silent_p.I313I|ATXN2L_uc002drb.3_Silent_p.I313I|ATXN2L_uc002drc.3_Silent_p.I313I|ATXN2L_uc010vdb.2_Silent_p.I313I|ATXN2L_uc002dre.3_Silent_p.I313I|ATXN2L_uc002drf.3_5'UTR	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	313						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCCTACGGATCGCCATGGAGA	0.602000														42			10		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186015882	186015882	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:186015882C>T	uc003fqa.3	-	3	818	c.281G>A	c.(280-282)gGa>gAa	p.G94E	DGKG_uc003fqb.3_Missense_Mutation_p.G94E|DGKG_uc003fqc.3_Missense_Mutation_p.G94E|DGKG_uc011brx.2_Missense_Mutation_p.G94E	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	94					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)	GTTGCTGGCTCCCTCCGTCGG	0.617000														97			22		0	0	1	0	0
IL34	146433	broad.mit.edu	37	16	70693520	70693520	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:70693520G>A	uc002ezh.2	+	6	958	c.403_splice	c.e6-1	p.D135_splice	IL34_uc002ezi.2_Splice_Site_p.D134_splice|IL34_uc021tkk.1_Splice_Site_p.D135_splice	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN	Homo sapiens interleukin 34 (IL34), transcript variant 1, mRNA.	135					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						CTCCTTTCCAGGATGTGGAGG	0.627000														26			8		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872281	51872281	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:51872281G>A	uc002xwo.3	+	1	3171	c.2284G>A	c.(2284-2286)Gat>Aat	p.D762N	TSHZ2_uc021wex.1_Missense_Mutation_p.D759N	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	762					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGAGAACAGCGATCAGCCCAT	0.532000														95			12		0	0	1	0	0
CYP39A1	51302	broad.mit.edu	37	6	46604135	46604135	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46604135A>C	uc003oyf.1	-	4	927	c.723T>G	c.(721-723)gaT>gaG	p.D241E	CYP39A1_uc011dwa.1_Missense_Mutation_p.D221E|CYP39A1_uc010jzd.1_Missense_Mutation_p.D69E	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	Homo sapiens cytochrome P450, family 39, subfamily A, polypeptide 1 (CYP39A1), mRNA.	241					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CCATGGAATTATCTTTTGCAG	0.274000														56			16		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19520786	19520786	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:19520786C>T	uc003jgd.3	-	9	2026	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	CDH18_uc011cnm.2_Missense_Mutation_p.E498K|CDH18_uc003jgc.3_Missense_Mutation_p.E498K|CDH18_uc021xwu.1_Missense_Mutation_p.E498K	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	498	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTAGAATTTTCACATACAATA	0.373000														57			22		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480853	57480853	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57480853G>A	uc009vzx.1	-	11	1467	c.1147C>T	c.(1147-1149)Ccc>Tcc	p.P383S	DAB1_uc001cyt.1_Missense_Mutation_p.P381S|DAB1_uc001cyq.1_Missense_Mutation_p.P381S|DAB1_uc001cyr.1_Missense_Mutation_p.P297S|DAB1_uc009vzw.1_Missense_Mutation_p.P365S|DAB1_uc001cys.1_Missense_Mutation_p.P383S	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	416					cell differentiation|nervous system development			p.G382S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGGGTGAGGGGACCTTGGAAC	0.592000														67			27		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107703405	107703405	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107703405C>T	uc010ljo.1	-	22	3180	c.3096G>A	c.(3094-3096)atG>atA	p.M1032I	LAMB4_uc003vey.2_Missense_Mutation_p.M1032I|LAMB4_uc010ljp.1_Missense_Mutation_p.M1I	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1032	Laminin EGF-like 11.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGGGACACTCCATGGGACTCA	0.532000														39			18		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45861601	45861601	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45861601C>T	uc010gpt.1	+	32	4663	c.4563C>T	c.(4561-4563)gcC>gcT	p.A1521A	TRPM2_uc002zet.1_Silent_p.A1471A|TRPM2_uc002zeu.1_Silent_p.A1471A|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.A1471A|TRPM2_uc002zex.1_Silent_p.A1257A|TRPM2_uc002zey.1_Silent_p.A950A|TRPM2_uc011aff.1_Silent_p.A152A	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1471						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACTCGGGGGCCTCCATCCGAT	0.652000														36			7		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26781309	26781309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:26781309G>A	uc001iss.3	+	2	375	c.54G>A	c.(52-54)gaG>gaA	p.E18E	APBB1IP_uc001isr.3_Silent_p.E18E|APBB1IP_uc009xks.1_Silent_p.E18E	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	18					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TGCTGGGAGAGATGGATCTTC	0.388000														96			39		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249484	52249484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52249484G>A	uc021uyn.1	-	2	910	c.764C>T	c.(763-765)tCc>tTc	p.S255F	FPR1_uc002pxq.3_Missense_Mutation_p.S255F|FPR1_uc021uyo.1_Missense_Mutation_p.S255F	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	255					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)	CTGATATGGGGACCAGCAGAG	0.498000														36			15		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52520529	52520529	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:52520529G>A	uc001vfw.2	-	12	3108	c.2951C>T	c.(2950-2952)cCc>cTc	p.P984L	ATP7B_uc001vfy.2_Missense_Mutation_p.P873L|ATP7B_uc010adv.2_Missense_Mutation_p.P554L|ATP7B_uc001vfx.2_Missense_Mutation_p.P777L|ATP7B_uc010tgt.1_Intron|ATP7B_uc010tgu.1_Missense_Mutation_p.P936L|ATP7B_uc010tgv.1_Missense_Mutation_p.P906L|ATP7B_uc001vfv.2_Missense_Mutation_p.P256L|ATP7B_uc010tgs.1_Missense_Mutation_p.P256L	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	984					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)		CAGGGAGCAGGGGCAGGCAAT	0.622000									Wilson disease					36			5		0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100458845	100458845	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100458845C>T	uc003uwp.3	+	9	1446	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	SLC12A9_uc003uwq.3_Missense_Mutation_p.S346F|SLC12A9_uc011kki.2_5'UTR|SLC12A9_uc003uwr.3_Missense_Mutation_p.S171F|SLC12A9_uc003uws.3_5'UTR|SLC12A9_uc003uwt.3_Missense_Mutation_p.S171F|SLC12A9_uc003uwv.3_5'UTR	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	435						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTGGACCTGTCCTGCCTGAGC	0.632000														121			42		0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58190262	58190262	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58190262G>A	uc002qpu.3	+	4	1988	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	431					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCCACACCAGAAGCTTCCTA	0.398000														99			22		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38958423	38958423	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38958423G>A	uc002oit.3	+	24	3482	c.3352G>A	c.(3352-3354)Gag>Aag	p.E1118K	RYR1_uc002oiu.3_Missense_Mutation_p.E1118K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1118	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGAGCTGACGAGCTGGCCTA	0.632000														50			22		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140235691	140235691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140235691C>T	uc003lhx.2	+	0	58	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	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_Missense_Mutation_p.L20F|PCDHAC2_uc011dad.2_Missense_Mutation_p.L20F	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	34					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)			GCTTCTTCTCCTCGCAGCCTG	0.592000														51			18		0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57016149	57016149	+	Splice_Site	SNP	C	T	T	rs111642444		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:57016149C>T	uc002eki.2	+	14	1378	c.1321_splice	c.e14+1	p.R441_splice	CETP_uc002ekj.2_Splice_Site_p.R381_splice	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	441					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GGTCATGTCTCGTAAGTGTGG	0.592000														55			16		0	0	1	0	0
EDDM3B	64184	broad.mit.edu	37	14	21238538	21238538	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21238538G>A	uc021ron.1	+	0	229	c.229G>A	c.(229-231)Gag>Aag	p.E77K	EDDM3B_uc001vyd.3_Missense_Mutation_p.E77K	NM_022360	NP_071755	P56851	EP3B_HUMAN	Homo sapiens epididymal protein 3B (EDDM3B), mRNA.	77					spermatid development	extracellular region				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GTACAAAATCGAGCATATATG	0.403000														71			25		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099318	168099318	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:168099318C>T	uc002udx.3	+	8	1505	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.S297S|XIRP2_uc010fpq.3_Silent_p.S250S|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	297					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTCCCAGTCCCCTGAACTGC	0.413000														75			43		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176833426	176833426	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176833426C>T	uc001glc.3	-	22	4091	c.3879G>A	c.(3877-3879)gaG>gaA	p.E1293E	ASTN1_uc001glb.1_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1301					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTGCTAGATCTCTTTGCTGT	0.517000														131			60		0	0	1	0	0
RTP3	83597	broad.mit.edu	37	3	46541948	46541948	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46541948G>A	uc003cps.1	+	1	326	c.258G>A	c.(256-258)atG>atA	p.M86I		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA.	86					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		AGGTGAAGATGAGGGTGTTTA	0.522000														187			13		0	0	1	0	0
BATF2	116071	broad.mit.edu	37	11	64756878	64756878	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64756878G>A	uc021qlb.1	-	0	1109	c.568C>T	c.(568-570)Cca>Tca	p.P190S	BATF2_uc001oce.1_Missense_Mutation_p.S98F|BATF2_uc001ocf.1_Missense_Mutation_p.S183F	NM_138456	NP_612465	Q8N1L9	BATF2_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like 2 (BATF2), mRNA.	178						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						CTGCAGGCTGGAACCAGTGTG	0.657000														30			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307514	140307514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140307514C>T	uc003lih.2	+	0	1213	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.S346L	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	371	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACTCTTTCGAACCCAGTA	0.517000														147			9		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46782321	46782321	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:46782321G>A	uc003bhw.1	-	18	6717	c.6717C>T	c.(6715-6717)ttC>ttT	p.F2239F	CELSR1_uc011arc.1_Silent_p.F560F	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2239					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGACGATGACGAAGGGCCGCA	0.677000														10			6		0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106680917	106680917	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:106680917G>A	uc009yxn.1	-	4	1884	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	GUCY1A2_uc001pjg.1_Silent_p.F498F|GUCY1A2_uc010rvo.1_Silent_p.F519F	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	498					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.I497F(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CATCACCAGGGAAAATAGAAT	0.418000														77			20		0	0	1	0	0
ZMYND12	84217	broad.mit.edu	37	1	42914141	42914141	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:42914141G>A	uc001chj.3	-	2	691	c.421C>T	c.(421-423)Ctt>Ttt	p.L141F	ZMYND12_uc010ojt.2_Intron	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN	Homo sapiens zinc finger, MYND-type containing 12 (ZMYND12), transcript variant 1, mRNA.	141						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACTCACCAAGGCTGGCCTCG	0.532000														21			6		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7976251	7976251	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7976251G>A	uc002gjy.1	-	14	2205	c.1944C>T	c.(1942-1944)ttC>ttT	p.F648F		NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	648	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GAATGTCCGGGAAGTGTCCCA	0.687000										Multiple Myeloma(8;0.094)				14			10		0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584834	1584834	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:1584834G>A	uc022brv.1	-	0	618	c.618C>T	c.(616-618)ttC>ttT	p.F206F	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.F206F	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	206						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGTGATCACGAACGGGATGA	0.647000			T	CRLF2	"""B-ALL, Downs associated ALL"""									39			13		0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63173294	63173294	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:63173294C>T	uc001jlo.2	-	5	975	c.606_splice	c.e5-1	p.R202_splice	TMEM26_uc001jlq.3_Non-coding_Transcript|TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	202						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AGGACTATTCCTAGAATACAG	0.363000														43			19		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99305460	99305460	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99305460G>A	uc003uru.3	-	11	1494	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F	ZNF498_uc003urn.3_Non-coding_Transcript|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.	464					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)					AGGTTTGAAGGAGAAGTTCTG	0.348000														172			14		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19070842	19070842	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19070842C>T	uc002dfp.2	+	14	2262	c.2132C>T	c.(2131-2133)tCa>tTa	p.S711L	TMC7_uc002dfq.3_Intron|TMC7_uc010vap.2_Intron	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	0						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TCCAGAGGGTCATGGCTGGGG	0.517000														48			22		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38957887	38957887	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38957887C>T	uc021yzh.1	+	87	13262	c.13153C>T	c.(13153-13155)Cag>Tag	p.Q4385*	DNAH8_uc003ooe.2_Nonsense_Mutation_p.Q4168*	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGAATACATCCAGTCACTGCC	0.408000														182			63		0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45005740	45005740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:45005740G>A	uc003tmh.2	-	15	2233	c.2089C>T	c.(2089-2091)Cgg>Tgg	p.R697W	MYO1G_uc003tmg.2_Missense_Mutation_p.R459W|MYO1G_uc010kym.2_Missense_Mutation_p.R582W|MYO1G_uc003tmi.1_3'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	697						myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						ACCAGTGTCCGGGGTGAGCGG	0.642000														37			10		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77327083	77327083	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:77327083G>A	uc002ffc.4	-	19	3498	c.3079C>T	c.(3079-3081)Ccc>Tcc	p.P1027S	ADAMTS18_uc010chc.1_Missense_Mutation_p.P615S	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	1027	TSP type-1 3.				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						TGGCTCTCGGGGAGGGTTTCT	0.572000														86			46		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111156206	111156206	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:111156206C>T	uc001vqx.3	+	43	4440	c.4151C>T	c.(4150-4152)aCt>aTt	p.T1384I		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1384	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCCCCCGGGACTGTGGGAGCC	0.652000														73			20		0	0	1	0	0
ZDHHC8P1	150244	broad.mit.edu	37	22	23742318	23742318	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:23742318G>A	uc002zxa.4	-	2		c.818C>T			ZDHHC8P1_uc002zxb.4_Non-coding_Transcript|ZDHHC8P1_uc002zwz.4_Non-coding_Transcript					Homo sapiens zinc finger, DHHC-type containing 8 pseudogene 1 (ZDHHC8P1), non-coding RNA.																		CCCAGCACGGGACTGAAGCTG	0.677000														31			8		0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52853451	52853451	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52853451G>A	uc011bem.2	-	16	2078	c.2050C>T	c.(2050-2052)Cct>Tct	p.P684S	ITIH4_uc011bel.2_Missense_Mutation_p.P379S|ITIH4_uc003dfy.3_Missense_Mutation_p.P513S|ITIH4_uc003dfz.3_Missense_Mutation_p.P679S|ITIH4_uc011ben.2_Missense_Mutation_p.P649S	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	679					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GCATGGTCAGGAACATCAGGA	0.602000														87			27		0	0	1	0	0
DENND2D	79961	broad.mit.edu	37	1	111741362	111741362	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111741362C>T	uc001eak.1	-	2	446	c.246G>A	c.(244-246)cgG>cgA	p.R82R	DENND2D_uc001eal.1_Silent_p.R79R	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	Homo sapiens DENN/MADD domain containing 2D (DENND2D), mRNA.	82	UDENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GCAGGTTCTCCCGCTATAAGG	0.557000														43			13		0	0	1	0	0
LOC729020	729020	broad.mit.edu	37	10	105005945	105005945	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105005945C>T	uc009xxi.2	+	0	302	c.192C>T	c.(190-192)gaC>gaT	p.D64D	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	64					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										TAGGCCAGGACCCTTTCTTTG	0.488000														229			89		0	0	1	0	0
ATG16L1	55054	broad.mit.edu	37	2	234200864	234200865	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234200864_234200865CC>TT	uc002vty.3	+	14	1778_1779	c.1521_1522CC>TT	c.(1519-1524)tcccgt>tcTTgt	p.R508C	ATG16L1_uc021vyl.1_Missense_Mutation_p.R392C|ATG16L1_uc002vub.3_Missense_Mutation_p.R366C|ATG16L1_uc002vtz.3_Missense_Mutation_p.R329C|ATG16L1_uc002vud.4_Missense_Mutation_p.R424C|ATG16L1_uc002vua.3_Missense_Mutation_p.R489C|ATG16L1_uc002vtx.2_Missense_Mutation_p.R345C	NM_030803	NP_001177196	Q676U5	A16L1_HUMAN	Homo sapiens ATG16 autophagy related 16-like 1 (S. cerevisiae) (ATG16L1), transcript variant 1, mRNA.	508					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TGAGCTGCTCCCGTGATGACTT	0.475000														60			17		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64428396	64428396	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64428396C>T	uc021qkw.1	-	9	2476	c.2014G>A	c.(2014-2016)Ggc>Agc	p.G672S	NRXN2_uc021qkx.1_Missense_Mutation_p.G641S|NRXN2_uc001oas.3_Missense_Mutation_p.G641S|NRXN2_uc001oaq.3_Missense_Mutation_p.G339S	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	672	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCAGCCAGGCCCCGGAGGTCT	0.682000														33			23		0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183107490	183107490	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183107490G>A	uc003fli.1	-	1	244	c.154C>T	c.(154-156)Ctt>Ttt	p.L52F	MCF2L2_uc003flj.1_Missense_Mutation_p.L52F|MCF2L2_uc003flp.1_Missense_Mutation_p.L87F	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	52	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTACCTGAAAGAATGGCAAAT	0.433000														60			13		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353842	77353842	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:77353842G>A	uc002ffc.4	-	15	2855	c.2436C>T	c.(2434-2436)ttC>ttT	p.F812F	ADAMTS18_uc010chc.1_Silent_p.F400F|ADAMTS18_uc002ffe.1_Silent_p.F508F	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	812	Spacer.				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						CAGCGAAGGGGAACTCCCCAG	0.572000														78			13		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46797136	46797136	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46797136G>T	uc011dwh.1	+	8	1064	c.1056G>T	c.(1054-1056)gcG>gcT	p.A352A	MEP1A_uc010jzh.1_Silent_p.A324A|MEP1A_uc011dwg.1_Silent_p.A46A|MEP1A_uc011dwi.1_Silent_p.A224A	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	324	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CGGGGTCCGCGGAAGAGGCAG	0.537000														136			37		1.30998e-17	1.31685e-17	1	1	0
IQCA1	79781	broad.mit.edu	37	2	237246931	237246931	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:237246931G>A	uc002vwb.2	-	16	2109	c.2075C>T	c.(2074-2076)cCc>cTc	p.P692L	IQCA1_uc002vvz.1_Missense_Mutation_p.P684L|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.P643L	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	684							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AGCATCGAAGGGACGCCGTGT	0.488000														48			22		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38646255	38646255	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38646255G>A	uc021wvo.1	-	9	1535	c.1483C>T	c.(1483-1485)Ccc>Tcc	p.P495S	SCN5A_uc021wvk.1_Missense_Mutation_p.P495S|SCN5A_uc021wvl.1_Missense_Mutation_p.P495S|SCN5A_uc021wvm.1_Missense_Mutation_p.P495S|SCN5A_uc021wvn.1_Missense_Mutation_p.P495S|SCN5A_uc021wvp.1_Missense_Mutation_p.P495S|SCN5A_uc021wvq.1_Missense_Mutation_p.P495S|SCN5A_uc021wvr.1_Missense_Mutation_p.P495S|SCN5A_uc021wvs.1_Missense_Mutation_p.P495S|SCN5A_uc021wvt.1_Missense_Mutation_p.P495S|SCN5A_uc021wvu.1_Missense_Mutation_p.P495S|SCN5A_uc021wvv.1_Missense_Mutation_p.P495S|SCN5A_uc021wvj.1_Missense_Mutation_p.P361S|SCN5A_uc021wvi.1_Missense_Mutation_p.P361S|SCN5A_uc021wvw.1_Missense_Mutation_p.P106S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	495					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCAGACTTGGGGAGCCTGTCC	0.527000														30			15		0	0	1	0	0
C10orf88	80007	broad.mit.edu	37	10	124692119	124692119	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124692119G>A	uc001lgw.2	-	5	1387	c.1162C>T	c.(1162-1164)Ctg>Ttg	p.L388L	C10orf88_uc001lgx.2_Silent_p.L290L	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	Homo sapiens chromosome 10 open reading frame 88 (C10orf88), mRNA.	388										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TTTTCCATCAGTTCCATATTT	0.308000														49			11		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430764	135430764	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:135430764G>A	uc004ezu.1	+	5	5190	c.4899G>A	c.(4897-4899)atG>atA	p.M1633I	GPR112_uc010nsb.1_Missense_Mutation_p.M1428I|GPR112_uc010nsc.1_Missense_Mutation_p.M1400I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1633					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTACAGAAATGATAGAGGCAC	0.448000														53			66		0	0	1	0	0
F12	2161	broad.mit.edu	37	5	176831610	176831610	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176831610C>T	uc003mgo.4	-	7	739	c.690G>A	c.(688-690)agG>agA	p.R230R		NM_000505	NP_000496	P00748	FA12_HUMAN	Homo sapiens coagulation factor XII (Hageman factor) (F12), mRNA.	230	Kringle.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGCGTGGTCCTGGCCAGGC	0.701000									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			7		0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77944600	77944601	+	Missense_Mutation	DNP	CC	TT	TT	rs140615876	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:77944600_77944601CC>TT	uc001xtz.3	-	5	1256_1257	c.1182_1183GG>AA	c.(1180-1185)acggac>acAAac	p.D395N	ISM2_uc001xua.3_Missense_Mutation_p.R279Q|ISM2_uc001xty.3_Missense_Mutation_p.D307N	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	395						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TCATGCATGTCCGTAGCATTGC	0.604000														127			24		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164679	139164679	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:139164679G>A	uc003yuy.3	-	12	2210	c.2039C>T	c.(2038-2040)tCa>tTa	p.S680L	FAM135B_uc003yux.3_Missense_Mutation_p.S581L|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.S242L|FAM135B_uc003yvb.3_Missense_Mutation_p.S242L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	680										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)			TATGATGGATGAAGATCTCTT	0.537000										HNSCC(54;0.14)				100			9		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65253698	65253698	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:65253698C>T	uc001xht.3	-	14	3036	c.2985G>A	c.(2983-2985)agG>agA	p.R995R	SPTB_uc001xhr.3_Silent_p.R995R|SPTB_uc001xhs.3_Silent_p.R995R|SPTB_uc001xhu.3_Silent_p.R995R	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	995					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.R995R(2)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTGACAACTTCCTCTGGATGG	0.607000														39			20		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249993	52249993	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52249993C>T	uc021uyn.1	-	2	401	c.255G>A	c.(253-255)aaG>aaA	p.K85K	FPR1_uc002pxq.3_Silent_p.K85K|FPR1_uc021uyo.1_Silent_p.K85K	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	85					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)	CTCCCATGGCCTTCCTGACCA	0.512000														104			11		0	0	1	0	0
MXRA8	54587	broad.mit.edu	37	1	1290374	1290374	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1290374C>T	uc001aex.4	-	4	668	c.637G>A	c.(637-639)Ggg>Agg	p.G213R	MXRA8_uc001aew.3_Missense_Mutation_p.G213R|MXRA8_uc001aey.4_Missense_Mutation_p.G213R|MXRA8_uc001aez.3_Missense_Mutation_p.G112R|MXRA8_uc001afa.3_Missense_Mutation_p.G204R	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	Homo sapiens matrix-remodelling associated 8 (MXRA8), mRNA.	213	Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGCGGGACCCCGGGCGGCTGC	0.741000														7			5		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31876828	31876828	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:31876828C>T	uc003tcm.2	-	10	1630	c.1169G>A	c.(1168-1170)tGg>tAg	p.W390*	PDE1C_uc003tcn.1_Nonsense_Mutation_p.W390*|PDE1C_uc003tco.2_Nonsense_Mutation_p.W450*|PDE1C_uc003tcr.3_Nonsense_Mutation_p.W390*|PDE1C_uc003tcs.3_Nonsense_Mutation_p.W390*	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	390	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGACATTGTCCAGCGATGATG	0.428000														83			17		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43106982	43106982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43106982G>A	uc011dve.1	+	8	1537	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	PTK7_uc003oub.1_Missense_Mutation_p.E491K|PTK7_uc003ouc.1_Missense_Mutation_p.E491K|PTK7_uc003oud.1_Missense_Mutation_p.E491K|PTK7_uc003oue.1_Intron|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	491					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CGGCAGCATCGAGGCGCAAGC	0.607000														34			20		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14378223	14378223	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:14378223C>T	uc003ssz.3	-	21	2229	c.2042G>A	c.(2041-2043)cGa>cAa	p.R681Q	DGKB_uc011jxt.2_Missense_Mutation_p.R662Q|DGKB_uc003sta.3_Missense_Mutation_p.R681Q|DGKB_uc011jxu.2_Missense_Mutation_p.R680Q	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	681					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|protein binding	p.R681*(2)|p.R681Q(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TCGATGGCTTCGTCTTTTCTT	0.398000														81			36		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52603771	52603771	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:52603771C>T	uc001jjj.3	-	3	399	c.211G>A	c.(211-213)Gag>Aag	p.E71K	A1CF_uc010qho.2_Missense_Mutation_p.E79K|A1CF_uc010qhn.2_Missense_Mutation_p.E79K|A1CF_uc009xov.3_Missense_Mutation_p.E71K|A1CF_uc001jji.3_Missense_Mutation_p.E71K|A1CF_uc001jjh.3_Missense_Mutation_p.E79K|A1CF_uc001jjk.1_Missense_Mutation_p.E71K	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	71	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGTATAAGCTCATCCTCAAAA	0.388000														169			51		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36212573	36212573	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36212573C>T	uc021usv.1	+	2	2324	c.2324C>T	c.(2323-2325)gCc>gTc	p.A775V	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	898	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTGGAAAAAGCCCGGATTGCG	0.607000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				25			6		0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73679476	73679476	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:73679476C>T	uc001ouo.3	+	5	1444	c.693C>T	c.(691-693)ttC>ttT	p.F231F		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	231					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding	p.L230fs*5(1)		large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					ACAACCTCTTCTTCGTGAACC	0.592000														32			16		0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65968957	65968957	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65968957G>A	uc002api.3	-	23	4577	c.4192C>T	c.(4192-4194)Cgt>Tgt	p.R1398C	DENND4A_uc002aph.3_Missense_Mutation_p.R1355C	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	1355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AGACTGGTACGATCAGAACTT	0.363000														29			8		0	0	1	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103510682	103510682	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:103510682C>T	uc001vpu.2	+	13	2070	c.1948C>T	c.(1948-1950)Ctg>Ttg	p.L650L	BIVM-ERCC5_uc010tjb.2_Silent_p.L196L|BIVM-ERCC5_uc001vpw.3_Silent_p.L196L|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Silent_p.L28L	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	621					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										CTTCAGCAGCCTGCCCCCTGA	0.388000														87			41		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940104	68940104	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:68940104G>A	uc009xpn.1	-	6	1141	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	CTNNA3_uc001jmw.2_Nonsense_Mutation_p.Q340*|CTNNA3_uc001jmx.4_Nonsense_Mutation_p.Q340*|CTNNA3_uc009xpo.1_Nonsense_Mutation_p.Q200*|CTNNA3_uc001jna.2_Nonsense_Mutation_p.Q352*	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	340					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGCAGATCCTGAAGAGCCTGG	0.502000														63			18		0	0	1	0	0
KRT17	3872	broad.mit.edu	37	17	39777260	39777260	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39777260G>A	uc002hxh.2	-	4	1039	c.918C>T	c.(916-918)acC>acT	p.T306T	JUP_uc010wfs.2_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	306	Coil 2.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGGCCTGCATGGTGCGCCGGA	0.597000														28			21		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73472451	73472451	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73472451G>A	uc001jrx.4	+	26	3634	c.3244G>A	c.(3244-3246)Ggc>Agc	p.G1082S	CDH23_uc001jrz.3_Missense_Mutation_p.G1082S|C10orf105_uc001jsa.2_3'UTR|C10orf105_uc001jsb.2_3'UTR|CDH23_uc001jsc.1_5'UTR	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1084	Cadherin 10.				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						GCGACACACGGGCACAGCCAC	0.577000														25			7		0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71851671	71851671	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:71851671G>A	uc001jqm.3	+	3	897	c.438G>A	c.(436-438)ggG>ggA	p.G146G		NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	146	Lys-rich.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						AGAAGGGGGGGAAGAAATCCA	0.587000														56			18		0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138518016	138518016	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:138518016G>A	uc010nbd.1	-	3	410	c.156C>T	c.(154-156)ctC>ctT	p.L52L		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	52					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		GGACAGGAGCGAGCCAGTCTG	0.532000														66			16		0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43530631	43530631	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43530631C>T	uc002ovm.1	-	1	1	c.-106_splice	c.e1-1		PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Splice_Site|PSG11_uc002ovo.1_Splice_Site	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.						female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TGCGCTGAGACTCTTCCCGGT	0.602000														33			5		0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88284438	88284438	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:88284438G>A	uc011lte.2	-	6	847	c.780C>T	c.(778-780)atC>atT	p.I260I	AGTPBP1_uc011ltc.2_Silent_p.I106I|AGTPBP1_uc011ltd.2_Silent_p.I208I|AGTPBP1_uc010mqc.3_Silent_p.I208I	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	208					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ATGGTCCAATGATTTTAAACA	0.348000														90			8		0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134041097	134041097	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:134041097C>T	uc003kzs.3	+	16	2813	c.2521C>T	c.(2521-2523)Caa>Taa	p.Q841*	SEC24A_uc011cxu.2_Nonsense_Mutation_p.Q605*	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	841					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCTGATGTTCAAGCAATTTC	0.353000														134			17		0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846493	72846493	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72846493G>A	uc002jlt.1	-	5	1499	c.1343C>T	c.(1342-1344)cCc>cTc	p.P448L	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.P448L	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	448					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CTTGGTGTAGGGGGCCACGTC	0.622000														119			32		0	0	1	0	0
KCTD18	130535	broad.mit.edu	37	2	201371607	201371607	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:201371607G>A	uc002uvs.3	-	1	650	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	KCTD18_uc002uvt.3_Missense_Mutation_p.R45C|KCTD18_uc002uvu.1_Missense_Mutation_p.R45C	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.	45	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R45H(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AGAGGAAAGCGACCACTGAAC	0.433000														58			27		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89925205	89925205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89925205G>A	uc003kju.3	+	8	1784	c.1688G>A	c.(1687-1689)gGa>gAa	p.G563E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	563					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTCCTGCTGGAGCTGTGGAC	0.403000														57			11		0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47752396	47752396	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:47752396T>C	uc002xud.3	-	5	994	c.583A>G	c.(583-585)Aaa>Gaa	p.K195E	STAU1_uc002xua.3_Missense_Mutation_p.K114E|STAU1_uc002xub.3_Missense_Mutation_p.K114E|STAU1_uc002xuc.3_Missense_Mutation_p.K114E|STAU1_uc002xue.3_Missense_Mutation_p.K114E|STAU1_uc002xuf.3_Missense_Mutation_p.K114E|STAU1_uc002xug.3_Missense_Mutation_p.K195E	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	195	DRBM 2.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AAGTTCCGTTTAAGTGCAATC	0.328000														50			20		0	0	1	0	0
UTP11L	51118	broad.mit.edu	37	1	38484756	38484756	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:38484756T>A	uc001ccn.4	+	4	459	c.368T>A	c.(367-369)cTc>cAc	p.L123H	UTP11L_uc009vvm.3_Missense_Mutation_p.L54H|UTP11L_uc010oil.2_Non-coding_Transcript|UTP11L_uc001cco.4_Missense_Mutation_p.L54H	NM_016037	NP_057121	Q9Y3A2	UTP11_HUMAN	Homo sapiens UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast) (UTP11L), mRNA.	123					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAATCAGAGCTCCATCTGCTG	0.363000														82			25		0	0	1	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42274671	42274671	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:42274671G>A	uc002iga.3	-	2	372	c.281C>T	c.(280-282)gCc>gTc	p.A94V	ATXN7L3_uc010wiv.2_5'Flank|ATXN7L3_uc002ifz.3_Missense_Mutation_p.A94V	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	Homo sapiens ataxin 7-like 3 (ATXN7L3), transcript variant 2, mRNA.	94					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCGGGAGGCGGCAATGCTGCG	0.597000														51			53		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555862	125555862	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:125555862C>T	uc010flu.3	+	18	3546	c.3182C>T	c.(3181-3183)tCt>tTt	p.S1061F	CNTNAP5_uc002tno.3_Missense_Mutation_p.S1060F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1060	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AATTCTTCTTCTCAGGACTTC	0.498000														49			7		0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124896607	124896607	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124896607G>A	uc003ehw.4	-	4	759	c.689C>T	c.(688-690)tCt>tTt	p.S230F	SLC12A8_uc003ehv.4_Missense_Mutation_p.S201F|SLC12A8_uc010hrz.1_Missense_Mutation_p.S66F	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	201					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GTGGGTGAAAGAACCCACCAC	0.522000														24			16		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153054170	153054170	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:153054170G>A	uc011dcy.2	+	5	867	c.840G>A	c.(838-840)tgG>tgA	p.W280*	GRIA1_uc003lva.4_Nonsense_Mutation_p.W270*|GRIA1_uc003luy.4_Nonsense_Mutation_p.W270*|GRIA1_uc003luz.4_Nonsense_Mutation_p.W175*|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Nonsense_Mutation_p.W190*|GRIA1_uc011dcx.2_Nonsense_Mutation_p.W201*|GRIA1_uc011dcz.2_Nonsense_Mutation_p.W280*|GRIA1_uc010jia.1_Nonsense_Mutation_p.W250*	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	270					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGCAGCAGTGGAAGAATAGTG	0.532000														97			43		0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40773171	40773171	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:40773171C>T	uc001cfh.1	-	19	1067	c.955_splice	c.e19-1	p.G319_splice	COL9A2_uc001cfi.1_Splice_Site_p.G138_splice	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	319	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCTGCACTGCCCTGGGATAGA	0.592000														23			10		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060385	46060385	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:46060385C>T	uc003gxb.3	-	7	916	c.764_splice	c.e7-1	p.G255_splice		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	255					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TAACATAATCCCCTGTAAGAA	0.279000														54			22		0	0	1	0	0
NUDT21	11051	broad.mit.edu	37	16	56480599	56480599	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:56480599G>A	uc002eja.3	-	2	467	c.320C>T	c.(319-321)cCt>cTt	p.P107L		NM_007006	NP_008937	O43809	CPSF5_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 21 (NUDT21), mRNA.	107	Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						TTCACCACCAGGTCTGTATAA	0.318000														68			9		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188492	57188492	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:57188492C>T	uc010kzo.3	-	4	901	c.630G>A	c.(628-630)gaG>gaA	p.E210E		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGTAGGACTTCTCCCTAGTAT	0.333000														32			10		0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60708742	60708742	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60708742G>A	uc001nqn.2	-	4	1362	c.1128C>T	c.(1126-1128)ctC>ctT	p.L376L	SLC15A3_uc001nqo.2_Intron	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	376					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CATTGGCCAGGAGGAGCCAGG	0.597000														26			11		0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42563605	42563605	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42563605C>T	uc002osj.1	-	4	618	c.583G>A	c.(583-585)Gac>Aac	p.D195N	GRIK5_uc010eib.1_Missense_Mutation_p.D114N	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	195						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TCCCGGCTGTCGTCCAACATC	0.607000														71			36		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458426	142458426	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142458426G>A	uc003wak.2	+	1	78	c.61G>A	c.(61-63)Gat>Aat	p.D21N	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Intron|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	21					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CTTTGATGATGATGACAAGAT	0.532000														257			53		0	0	1	0	0
NANOG	79923	broad.mit.edu	37	12	7945794	7945794	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7945794C>T	uc009zfy.1	+	1	616	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	134					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CATCCTGAACCTCAGCTACAA	0.438000														42			4		0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92647599	92647599	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:92647599C>G	uc002bqx.2	+	3	1037	c.836C>G	c.(835-837)tCc>tGc	p.S279C	SLCO3A1_uc002bqy.2_Missense_Mutation_p.S279C|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.S221C	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	279					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TTCTTCTCTTCCCTCTTGATG	0.587000														233			13		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149493797	149493797	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149493797G>A	uc010lpk.3	+	44	6784	c.6784G>A	c.(6784-6786)Gag>Aag	p.E2262K		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2265	LDL-receptor class A 8.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGCTCGGATGAGGAGGGCTG	0.642000														13			4		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82835853	82835853	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:82835853C>T	uc003kii.3	+	7	7387	c.7031C>T	c.(7030-7032)cCc>cTc	p.P2344L	VCAN_uc003kij.3_Missense_Mutation_p.P1357L|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P1008L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2344	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCAGAAGGACCCACGGTGGCA	0.468000														82			21		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56403666	56403666	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56403666C>T	uc002ivx.4	-	2	1429	c.558G>A	c.(556-558)acG>acA	p.T186T	BZRAP1_uc010dcs.3_Silent_p.T186T|BZRAP1_uc010wnt.2_Silent_p.T186T|LOC100506779_uc021uan.1_Intron|LOC100506779_uc010dct.2_5'Flank|LOC100506779_uc010dcu.2_5'Flank	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	186						mitochondrion	benzodiazepine receptor binding	p.T186T(3)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCTCAGGTTCGTTTCCTGCA	0.632000														51			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179666962	179666962	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179666962C>T	uc021vsy.1	-	2	423	c.198G>A	c.(196-198)acG>acA	p.T66T	TTN_uc021vsz.1_Silent_p.T66T|TTN_uc021vta.1_Silent_p.T66T|TTN_uc021vtb.1_Silent_p.T66T|TTN_uc002unb.2_Silent_p.T66T|TTN_uc002und.3_Silent_p.T66T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	66	Ig-like 1.						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)			CGGCGGGGATCGTCAGTTTAG	0.542000														84			31		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003043	122003043	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122003043C>T	uc003eew.4	+	6	2710	c.2272C>T	c.(2272-2274)Ccg>Tcg	p.P758S	CASR_uc003eev.4_Missense_Mutation_p.P748S	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	748					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)	CACCGCGCCCCCGTCAAGCTA	0.592000														49			23		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89953918	89953918	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89953918C>T	uc003kju.3	+	20	4671	c.4575C>T	c.(4573-4575)ttC>ttT	p.F1525F	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1525	Calx-beta 10.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACAAATCATTCATTATTTCTG	0.358000														94			36		0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100933186	100933186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:100933186G>A	uc001pgh.2	-	3	2947	c.2204C>T	c.(2203-2205)tCa>tTa	p.S735L	PGR_uc001pgg.2_Missense_Mutation_p.S116L|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	735	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	ACCTGGCAATGATTTAGACCA	0.328000														112			28		0	0	1	0	0
LHX2	9355	broad.mit.edu	37	9	126794844	126794845	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:126794844_126794845CC>TT	uc010mwi.1	+	4	1842_1843	c.1103_1104CC>TT	c.(1102-1104)ccc>cTT	p.P368L	LHX2_uc004boe.1_Missense_Mutation_p.P360L	NM_004789	NP_004780	P50458	LHX2_HUMAN	Homo sapiens LIM homeobox 2 (LHX2), mRNA.	360						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						TCGCTCAGCCCCTCCAGCACGC	0.658000														37			15		0	0	1	0	0
FAM74A3	728495	broad.mit.edu	37	9	40715848	40715848	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:40715848G>A	uc010mmk.2	+	0		c.325G>A								Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACCCAGAGAAGATGTGGAGGG	0.567000														3			3		0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99670140	99670140	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:99670140C>T	uc002bup.3	+	4	1692	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F	SYNM_uc002buo.3_Silent_p.F524F|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	525	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGAAAATGTTCGATTCTAAAG	0.448000														21			21		0	0	1	0	0
SMAD7	4092	broad.mit.edu	37	18	46447850	46447850	+	Silent	SNP	C	T	T	rs34151545	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:46447850C>T	uc002ldg.3	-	3	1460	c.1173G>A	c.(1171-1173)acG>acA	p.T391T	SMAD7_uc002ldf.3_Silent_p.T203T|SMAD7_uc010xde.2_Silent_p.T176T|SMAD7_uc021ujr.1_Silent_p.T390T	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	391	MH2.				BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					CGGTAAAGCCCGTCCACGGCT	0.577000														30			13		0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163031436	163031436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:163031436C>T	uc002ucd.3	-	21	2118	c.1910G>A	c.(1909-1911)gGa>gAa	p.G637E	FAP_uc010fpc.3_Missense_Mutation_p.G186E|FAP_uc010zct.2_Missense_Mutation_p.G612E	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	637					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AAGACCAGTTCCAGATGCAAG	0.408000														39			21		0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23517527	23517527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23517527C>T	uc001wil.3	-	12	2382	c.2122G>A	c.(2122-2124)Ggg>Agg	p.G708R	CDH24_uc010akf.3_Missense_Mutation_p.G670R	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	708					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		ggggccgccccgTCCGGGTTC	0.761000														87			45		0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150489234	150489234	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150489234G>A	uc022apx.1	-	4	756	c.630C>T	c.(628-630)ttC>ttT	p.F210F	TMEM176B_uc003whu.4_Silent_p.F210F|TMEM176B_uc003whv.4_Silent_p.F173F|TMEM176B_uc003whw.4_Silent_p.F210F	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	210					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACAGCCAGGAACAGGGCAC	0.522000														61			15		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5013342	5013342	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5013342C>T	uc001lzv.3	+	4	762	c.744C>T	c.(742-744)atC>atT	p.I248I		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	248					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCCAAAGGATCCAGCATTTGT	0.448000														46			24		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169572341	169572341	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169572341C>T	uc001ggi.4	-	9	1693	c.1628G>A	c.(1627-1629)gGa>gAa	p.G543E	SELP_uc001ggh.3_Missense_Mutation_p.G378E|SELP_uc009wvr.3_Missense_Mutation_p.G543E	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	543	Sushi 6.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAAAGAATATCCCTCGTCACA	0.473000														84			42		0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56823451	56823451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:56823451C>T	uc003hbi.3	+	4	769	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S	CEP135_uc003hbh.1_Missense_Mutation_p.P179S|CEP135_uc010igz.1_Missense_Mutation_p.P9S	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	179					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding			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)					ACCGGTTCCTCCCTCTGAAGT	0.408000														151			32		0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232127033	232127033	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:232127033C>T	uc002vrq.4	+	11	1153	c.1041C>T	c.(1039-1041)tcC>tcT	p.S347S	ARMC9_uc002vrp.4_Silent_p.S347S|ARMC9_uc002vrr.1_Non-coding_Transcript	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	347							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGACCACATCCCATCCTGGAG	0.478000														115			32		0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100692463	100692463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:100692463G>A	uc004axy.3	-	2	1322	c.1214C>T	c.(1213-1215)cCt>cTt	p.P405L	HEMGN_uc004axz.3_Missense_Mutation_p.P405L	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	405					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GAGGTCTTCAGGCCCCGGTGT	0.433000														206			101		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34129178	34129178	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34129178C>T	uc001zhi.3	+	87	11710	c.11640C>T	c.(11638-11640)tcC>tcT	p.S3880S	RYR3_uc010bar.3_Silent_p.S3875S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3880					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGCTTCTGTCCCTCCTGGAAG	0.483000														15			11		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171546720	171546720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171546720C>T	uc010pmg.2	+	25	7363	c.7097C>T	c.(7096-7098)tCc>tTc	p.S2366F	PRRC2C_uc010pmh.2_Missense_Mutation_p.S1278F|PRRC2C_uc010pmi.2_Missense_Mutation_p.S203F|PRRC2C_uc010pmj.2_5'Flank	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	2366	Gln-rich.						protein C-terminus binding										TGTATGCCTTCCCTTATTGCC	0.413000														33			12		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49663135	49663135	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:49663135G>A	uc001jgu.3	-	5	1047	c.750C>T	c.(748-750)taC>taT	p.Y250Y	ARHGAP22_uc001jgs.3_Silent_p.Y144Y|ARHGAP22_uc001jgt.3_Silent_p.Y234Y|ARHGAP22_uc010qgl.2_Silent_p.Y191Y|ARHGAP22_uc010qgm.2_Silent_p.Y240Y|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	234	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTCCCGCAGGTACAGCTTCA	0.662000														24			7		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48267725	48267725	+	Missense_Mutation	SNP	G	A	A	rs145307365		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48267725G>A	uc002iqm.3	-	34	2540	c.2414C>T	c.(2413-2415)cCt>cTt	p.P805L		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	805	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGGGGGACCAGGCTCACCACG	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							79			6		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588639	20588639	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:20588639C>T	uc001ytg.3	-	26	4131	c.3422G>A	c.(3421-3423)aGa>aAa	p.R1141K	HERC2P3_uc010tyx.1_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GTTCATTCTTCTTATAAATAA	0.413000														56			21		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11189841	11189841	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11189841G>A	uc001asd.3	-	39	5789	c.5668C>T	c.(5668-5670)Cgt>Tgt	p.R1890C	MTOR_uc001asc.3_Missense_Mutation_p.R95C	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1890	FAT.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GAGATGGAACGGAAGAAGCCC	0.522000														55			10		0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67293003	67293003	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:67293003C>T	uc004dww.4	-	19	2119	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	OPHN1_uc011mpg.2_Missense_Mutation_p.E609K	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	609					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CCTTCGCTTTCATCCAGGGAA	0.483000														2			9		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186670720	186670720	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:186670720G>A	uc002upl.3	+	16	16954	c.16954G>A	c.(16954-16956)Gaa>Aaa	p.E5652K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TAATAATAATGAAATTGAGAA	0.269000														68			29		0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40719431	40719431	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40719431C>T	uc002ona.3	+	8	2133	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	615					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CAGAGGAGTTCGCGGAGGCAG	0.706000														37			8		0	0	1	0	0
FOXO1	2308	broad.mit.edu	37	13	41134284	41134284	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:41134284A>C	uc001uxl.4	-	1	1729	c.1344T>G	c.(1342-1344)agT>agG	p.S448R	FOXO1_uc010acc.1_Missense_Mutation_p.S263R	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	Homo sapiens forkhead box O1 (FOXO1), mRNA.	448					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TACCTCCATAACTCGACTTAT	0.453000														51			26		0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5355600	5355600	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:5355600G>A	uc003soi.4	-	24	7198	c.6849C>T	c.(6847-6849)gaC>gaT	p.D2283D		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	2283							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTATCTTATAGTCAGGGGGCA	0.612000														22			6		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187535466	187535466	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187535466G>A	uc003izf.3	-	11	9296	c.9108C>T	c.(9106-9108)gtC>gtT	p.V3036V		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3036	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCCAGGAAGGACGTCTTCAG	0.388000										HNSCC(5;0.00058)				58			28		0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45384947	45384947	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:45384947G>A	uc002ilj.3	+	13	2265	c.2245G>A	c.(2245-2247)Gac>Aac	p.D749N	ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	749					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CACCATCCACGACCGAAAAGA	0.537000														27			18		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125836936	125836936	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:125836936G>A	uc003eim.1	-	16	2084	c.1894C>T	c.(1894-1896)Ctg>Ttg	p.L632L	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.L531L|ALDH1L1_uc003ein.1_5'Flank	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	632	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.S631F(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGGCCGACCAGGGAGCCTGTG	0.627000														34			4		0	0	1	0	0
ELOVL6	79071	broad.mit.edu	37	4	110972698	110972698	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:110972698G>A	uc003hzz.3	-	4	720	c.594C>T	c.(592-594)atC>atT	p.I198I	ELOVL6_uc003iaa.3_Silent_p.I198I	NM_001130721	NP_076995	Q9H5J4	ELOV6_HUMAN	Homo sapiens ELOVL fatty acid elongase 6 (ELOVL6), transcript variant 2, mRNA.	198					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		GGGACAAGGTGATGAACATGG	0.517000														63			31		0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171310668	171310668	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171310668G>A	uc001gho.3	+	9	1584	c.1367G>A	c.(1366-1368)aGa>aAa	p.R456K		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	456					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AAGGATCCCAGACTAGCTTGG	0.498000														75			12		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39564382	39564382	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39564382C>T	uc003xni.3	+	17	2031	c.1976C>T	c.(1975-1977)tCc>tTc	p.S659F	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.S635F	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	659					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CAGTTTGGTTCCCCAGGGGGT	0.318000														64			10		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140741049	140741049	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140741049C>T	uc003ljs.2	+	0	1347	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Silent_p.A449A|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	451	Cadherin 4.				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)			ACGATAATGCCCCAGTTTTCC	0.552000														123			46		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45059290	45059290	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:45059290C>T	uc010skz.1	-	13	1696	c.1571G>A	c.(1570-1572)aGa>aAa	p.R524K	NELL2_uc001rof.3_Missense_Mutation_p.R473K|NELL2_uc001rog.2_Missense_Mutation_p.R474K|NELL2_uc001roh.2_Missense_Mutation_p.R474K|NELL2_uc009zkd.2_Missense_Mutation_p.R473K|NELL2_uc010sla.1_Missense_Mutation_p.R497K|NELL2_uc001roi.1_Missense_Mutation_p.R474K|NELL2_uc010slb.1_Missense_Mutation_p.R473K|NELL2_uc001roj.2_Missense_Mutation_p.R474K	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	474	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)		ATCATCAATTCTGATGTATCC	0.348000														38			25		0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10697863	10697863	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:10697863C>T	uc002kos.2	-	40	6545	c.6371G>A	c.(6370-6372)cGa>cAa	p.R2124Q	PIEZO2_uc002koq.3_5'UTR	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2124	Ser-rich.					integral to membrane	ion channel activity										ACTGCTGTTTCGGGTGCTTGT	0.403000														33			4		0	0	1	0	0
PHF7	51533	broad.mit.edu	37	3	52457136	52457136	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52457136C>T	uc003ddy.3	+	10	1755	c.949C>T	c.(949-951)Cct>Tct	p.P317S	PHF7_uc003ddz.3_Missense_Mutation_p.P278S	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA.	317						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		AGGGGACATCCCTTGCTGCAG	0.527000														87			38		0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183995769	183995769	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183995769C>T	uc003fni.4	+	4	927	c.889C>T	c.(889-891)Cta>Tta	p.L297L	ECE2_uc011brg.1_Silent_p.L225L|ECE2_uc011brh.1_Silent_p.L150L|ECE2_uc003fnl.4_Silent_p.L225L|ECE2_uc003fnm.4_Silent_p.L179L|ECE2_uc003fnk.4_Silent_p.L150L|ECE2_uc011bri.1_Silent_p.L212L|ECE2_uc010hxv.3_5'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	297	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCGCTTCTACCTATCTTGCCT	0.557000														63			28		0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57868278	57868278	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57868278C>T	uc010etw.3	+	3	1570	c.1182C>T	c.(1180-1182)agC>agT	p.S394S	ZNF304_uc010ygw.2_Silent_p.S347S|ZNF304_uc010etx.3_Silent_p.S305S	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ACAGCAGAAGCTCCCACCTTG	0.473000														78			31		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13794063	13794063	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13794063G>A	uc003jfd.2	-	47	8034	c.7992C>T	c.(7990-7992)atC>atT	p.I2664I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2664	AAA 3 (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)					CCCACTCATTGATTATTGGCA	0.323000									Kartagener syndrome					58			31		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50217868	50217868	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:50217868G>A	uc002xwg.1	-	27	3026	c.3026C>T	c.(3025-3027)aCc>aTc	p.T1009I	ATP9A_uc010gih.1_Missense_Mutation_p.T873I|ATP9A_uc002xwf.1_Missense_Mutation_p.T181I	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	1009					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAATGACAAGGTGGCGATGAA	0.547000														31			13		0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77257047	77257047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:77257047G>A	uc001xsv.3	-	8	1872	c.1759C>T	c.(1759-1761)Cgc>Tgc	p.R587C		NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	587										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		ACCTCTGGGCGGCCACGCTGG	0.512000														42			4		0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16339673	16339673	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:16339673G>A	uc021whl.1	-	0	841	c.841C>T	c.(841-843)Cga>Tga	p.R281*	NRIP1_uc002yjx.2_Nonsense_Mutation_p.R281*	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	281	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GCGTGTTCTCGAGAATACTGC	0.458000														101			33		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248031355	248031355	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248031355G>A	uc001ido.3	+	4	909	c.861G>A	c.(859-861)agG>agA	p.R287R	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	287	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGCTCTTAAGGAAGTTCCAAG	0.507000														15			3		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9389741	9389741	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9389741G>A	uc021wam.1	+	19	1891	c.1876G>A	c.(1876-1878)Gga>Aga	p.G626R	PLCB4_uc010gbw.1_Missense_Mutation_p.G626R|PLCB4_uc010gbx.3_Missense_Mutation_p.G638R|PLCB4_uc021wal.1_Missense_Mutation_p.G626R|PLCB4_uc002wnh.3_Missense_Mutation_p.G473R	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	626	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTACCCCAAGGGAGGCCGAGT	0.423000														31			11		0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4069751	4069751	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:4069751C>T	uc003mvx.3	-	6	1112	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Missense_Mutation_p.E173K	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.	236																	GTGAAAGGTTCCTCAACATTT	0.378000														114			47		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858500	9858500	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:9858500C>T	uc010uym.2	-	13	3211	c.2901G>A	c.(2899-2901)gtG>gtA	p.V967V	GRIN2A_uc002czo.4_Silent_p.V967V|GRIN2A_uc010uyn.2_Silent_p.V810V|GRIN2A_uc002czr.4_Silent_p.V967V	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	967					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCGGTTGGCCACAAATGTTT	0.458000														79			40		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26655803	26655803	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:26655803C>T	uc001mqt.4	+	18	2071	c.1926C>T	c.(1924-1926)ttC>ttT	p.F642F	ANO3_uc010rdr.2_Silent_p.F626F|ANO3_uc010rds.2_Silent_p.F481F|ANO3_uc010rdt.2_Silent_p.F496F	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	642						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGAAGATGTTCCTCTTCCAGT	0.393000														57			7		0	0	1	0	0
CHCHD5	84269	broad.mit.edu	37	2	113343825	113343825	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113343825C>T	uc002tia.2	+	2	381	c.192C>T	c.(190-192)gcC>gcT	p.A64A	CHCHD5_uc002thz.1_Silent_p.A64A			Q9BSY4	CHCH5_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 5 (CHCHD5), mRNA.	64	CHCH.							p.A64V(1)		NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						CTTTTGAGGCCTTCGAGGAGT	0.637000														54			19		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76414572	76414572	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:76414572C>T	uc021rkq.1	+	21	3858	c.3523C>T	c.(3523-3525)Caa>Taa	p.Q1175*	LMO7_uc010thv.2_Nonsense_Mutation_p.Q893*|LMO7_uc001vjt.1_Nonsense_Mutation_p.Q841*|LMO7_uc001vjv.3_Nonsense_Mutation_p.Q942*|LMO7_uc010thw.2_Nonsense_Mutation_p.Q819*|LMO7_uc001vjw.1_Nonsense_Mutation_p.Q848*	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1227						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.E1175*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GGTGTGGGATCAAGAGGAGGA	0.527000														32			14		0	0	1	0	0
KIAA0146	23514	broad.mit.edu	37	8	48625280	48625280	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:48625280C>T	uc003xqd.3	+	14	2096	c.2034C>T	c.(2032-2034)gtC>gtT	p.V678V	KIAA0146_uc011ldb.2_Silent_p.V678V|KIAA0146_uc010lxs.3_Silent_p.V153V|KIAA0146_uc011ldc.2_Silent_p.V608V|KIAA0146_uc011ldd.2_Silent_p.V618V|KIAA0146_uc003xqe.3_Silent_p.V153V|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Silent_p.V367V|KIAA0146_uc010lxt.3_Silent_p.V367V|KIAA0146_uc011ldf.2_Silent_p.V183V|KIAA0146_uc011ldg.2_Silent_p.V168V|KIAA0146_uc003xqg.1_5'Flank	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	678										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				TGACCGATGTCACTCTGCAAA	0.498000														111			11		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165179979	165179979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:165179979C>T	uc001gcz.2	-	5	898	c.704G>A	c.(703-705)aGt>aAt	p.S235N	LMX1A_uc021pdz.1_Missense_Mutation_p.S235N|LMX1A_uc021pdy.1_5'UTR|LMX1A_uc001gcw.2_5'UTR	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	235						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GACACGGACACTCAGCCCTGT	0.483000														44			7		0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919877	142919877	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142919877G>A	uc011ksx.2	+	0	706	c.706G>A	c.(706-708)Gac>Aac	p.D236N		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	236					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.R235R(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					AGGGTCCAGGGACCCCAGCAT	0.507000														167			12		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47682051	47682051	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:47682051G>A	uc003oyz.1	+	6	1241	c.1241G>A	c.(1240-1242)aGg>aAg	p.R414K	GPR115_uc003oza.1_Missense_Mutation_p.R357K|GPR115_uc003ozb.1_Missense_Mutation_p.R357K|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	357					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TCCAAGAAAAGGAGATGGGAT	0.448000														65			21		0	0	1	0	0
ALKBH1	8846	broad.mit.edu	37	14	78142163	78142163	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:78142163G>A	uc001xuc.1	-	4	585	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA.	192					DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GGTCAGAAGGGAAAGGTGTGT	0.418000														60			18		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38858758	38858758	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38858758C>T	uc002oih.4	+	25	3088	c.3001C>T	c.(3001-3003)Cac>Tac	p.H1001Y	CATSPERG_uc002oig.4_Missense_Mutation_p.H961Y|CATSPERG_uc002oif.4_Missense_Mutation_p.H641Y|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	1001					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CATCATGTCCCACGAGAGCCC	0.602000														85			40		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99827539	99827539	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:99827539G>A	uc001pga.3	+	8	1178	c.674_splice	c.e8-1	p.E225_splice	CNTN5_uc009ywv.2_Splice_Site_p.E225_splice|CNTN5_uc001pfz.3_Splice_Site_p.E225_splice|CNTN5_uc021qpb.1_Splice_Site_p.E225_splice|CNTN5_uc021qpc.1_Splice_Site_p.E151_splice	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	225	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TATTTTCAGAGATCATCTATA	0.383000														42			15		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280433	152280433	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152280433G>A	uc001ezu.1	-	2	6965	c.6929C>T	c.(6928-6930)tCc>tTc	p.S2310F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2310	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCACCAGAGGAATTCTCTGC	0.567000									Ichthyosis					477			172		0	0	1	0	0
ALKBH3	221120	broad.mit.edu	37	11	43923211	43923211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:43923211C>T	uc001mxs.2	+	7	1048	c.605C>T	c.(604-606)cCc>cTc	p.P202L	ALKBH3_uc009ykp.2_Non-coding_Transcript|ALKBH3_uc001mxt.2_Non-coding_Transcript	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN	Homo sapiens alkB, alkylation repair homolog 3 (E. coli) (ALKBH3), mRNA.	202	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	DNA-N1-methyladenine dioxygenase activity|L-ascorbic acid binding|damaged DNA binding|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	GGGAGGTGCCCCATTATTGCT	0.478000								Direct reversal of damage						46			33		0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53560056	53560056	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:53560056G>A	uc001xai.3	-	2	1349	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	DDHD1_uc001xaj.3_Silent_p.T380T|DDHD1_uc001xah.3_Silent_p.T373T|DDHD1_uc001xag.3_5'UTR	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	373					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CCAGTTTTTGGGTAACTGTTC	0.323000														49			8		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21153424	21153424	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:21153424A>T	uc002kum.4	-	1	446	c.172T>A	c.(172-174)Tta>Ata	p.L58I	NPC1_uc010xba.1_Intron	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	58					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACCTGCACTAAGTCATATCCA	0.423000														141			58		0	0	1	0	0
C9	735	broad.mit.edu	37	5	39316095	39316095	+	Missense_Mutation	SNP	C	T	T	rs148389506		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:39316095C>T	uc003jlv.4	-	5	741	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	218	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)			ATTTGTTCTTCGTAATGTTCG	0.303000														43			15		0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53070861	53070861	+	Silent	SNP	G	A	A	rs137978741		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53070861G>A	uc001sau.1	-	5	1295	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	KRT1_uc001sav.1_Silent_p.I412I	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	412	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TGACATTGTCGATTTCAGATC	0.453000														43			38		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567106	45567106	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:45567106C>T	uc010dnv.3	-	2	875	c.439G>A	c.(439-441)Gag>Aag	p.E147K	ZBTB7C_uc002ldb.3_Missense_Mutation_p.E125K|ZBTB7C_uc010dnu.3_Missense_Mutation_p.E134K|ZBTB7C_uc010dnw.3_Missense_Mutation_p.E125K|ZBTB7C_uc010dnx.1_Missense_Mutation_p.E125K|ZBTB7C_uc010dny.1_Missense_Mutation_p.E125K|ZBTB7C_uc010dnz.1_Missense_Mutation_p.E147K|ZBTB7C_uc010doi.1_Missense_Mutation_p.E125K|ZBTB7C_uc010doj.1_Missense_Mutation_p.E134K|ZBTB7C_uc010dok.1_Missense_Mutation_p.E174K|ZBTB7C_uc010dol.1_Missense_Mutation_p.E134K|ZBTB7C_uc010doa.1_Missense_Mutation_p.E147K|ZBTB7C_uc010dob.1_Missense_Mutation_p.E125K|ZBTB7C_uc010doc.1_Missense_Mutation_p.E134K|ZBTB7C_uc010dod.1_Missense_Mutation_p.E147K|ZBTB7C_uc010doe.1_Missense_Mutation_p.E125K|ZBTB7C_uc010dof.1_Missense_Mutation_p.E125K|ZBTB7C_uc010dog.1_Missense_Mutation_p.E125K|ZBTB7C_uc010doh.1_Missense_Mutation_p.E134K|ZBTB7C_uc010dom.1_Missense_Mutation_p.E134K|ZBTB7C_uc010don.1_Missense_Mutation_p.E133K|ZBTB7C_uc010dop.1_Missense_Mutation_p.E125K|ZBTB7C_uc010doq.1_Missense_Mutation_p.E134K|ZBTB7C_uc010dor.1_Missense_Mutation_p.E147K|ZBTB7C_uc010dos.1_Missense_Mutation_p.E125K|ZBTB7C_uc010dot.1_Missense_Mutation_p.E125K|ZBTB7C_uc010doo.1_Missense_Mutation_p.E125K|ZBTB7C_uc010dou.1_Missense_Mutation_p.E134K	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	125	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TCCATGATCTCCAGGCACACG	0.592000														33			4		0	0	1	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99631479	99631479	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99631479C>T	uc003usk.1	+	5	1570	c.1351C>T	c.(1351-1353)Cat>Tat	p.H451Y	ZKSCAN1_uc003usl.1_Missense_Mutation_p.H415Y|ZKSCAN1_uc003usm.1_Missense_Mutation_p.H238Y	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	451					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TCTCATCCTCCATCAGCGCAT	0.512000														202			81		0	0	1	0	0
PRODH	5625	broad.mit.edu	37	22	18909852	18909852	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:18909852G>A	uc002zok.4	-	7	1119	c.915C>T	c.(913-915)acC>acT	p.T305T	PRODH_uc002zoj.4_Silent_p.T195T|PRODH_uc002zol.4_Silent_p.T197T	NM_016335	NP_057419	O43272	PROD_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 1 (PRODH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	305					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	ACACTCCCAGGGTCTCTGCCG	0.602000														31			7		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164589	26164589	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26164589G>A	uc003abz.1	+	3	956	c.706G>A	c.(706-708)Gag>Aag	p.E236K	MYO18B_uc003aca.1_Missense_Mutation_p.E117K|MYO18B_uc010guy.1_Missense_Mutation_p.E117K|MYO18B_uc010guz.1_Missense_Mutation_p.E117K|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	236						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						AAAAGGCGAGGAGGGTCAAAG	0.627000														11			7		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47500966	47500966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:47500966C>T	uc002leb.2	-	9	1364	c.1076G>A	c.(1075-1077)aGc>aAc	p.S359N	MYO5B_uc021ukb.1_Missense_Mutation_p.S358N	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	359	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCAGAAGTTGCTTAGGTATAC	0.592000														95			41		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89968486	89968486	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89968486G>A	uc003kju.3	+	21	4972	c.4876G>A	c.(4876-4878)Gac>Aac	p.D1626N	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1626	Calx-beta 11.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTTGTTGATGACTTTGCTAA	0.403000														79			38		0	0	1	0	0
TRIM72	493829	broad.mit.edu	37	16	31230642	31230642	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31230642G>A	uc002ebn.2	+	3	803	c.519G>A	c.(517-519)ggG>ggA	p.G173G	PYDC1_uc002ebo.3_5'Flank|PYDC1_uc021tgv.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.	173					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GGGCCGTGGGGGAGCAGCTGG	0.667000														86			20		0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	31498133	31498133	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:31498133C>T	uc003xip.3	+	0	866	c.633C>T	c.(631-633)ccC>ccT	p.P211P	NRG1_uc022ats.1_Intron	NM_013962	NP_039256	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant GGF2, mRNA.	594	EGF-like.				Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCATGGAGCCCGACGCCAACA	0.687000														44			8		0	0	1	0	0
YIF1B	90522	broad.mit.edu	37	19	38799639	38799639	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38799639G>A	uc002ohz.2	-	3	510	c.461C>T	c.(460-462)gCc>gTc	p.A154V	YIF1B_uc002ohw.2_Missense_Mutation_p.A123V|YIF1B_uc002ohx.2_Missense_Mutation_p.A139V|YIF1B_uc010xtx.1_Missense_Mutation_p.A137V|YIF1B_uc010xty.1_Missense_Mutation_p.A123V|YIF1B_uc002oia.2_Missense_Mutation_p.A151V|YIF1B_uc002ohy.2_Missense_Mutation_p.A151V|YIF1B_uc002oib.3_Missense_Mutation_p.A151V	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Homo sapiens Yip1 interacting factor homolog B (S. cerevisiae) (YIF1B), transcript variant 5, mRNA.	154						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAGGTCCGGGGCATTGACGTC	0.657000														12			4		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43332482	43332482	+	Silent	SNP	C	T	T	rs148517689		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43332482C>T	uc002yzw.3	-	6	1154	c.912G>A	c.(910-912)acG>acA	p.T304T	C2CD2_uc002yzu.3_Silent_p.T136T|C2CD2_uc002yzv.3_Silent_p.T149T|C2CD2_uc002yzx.1_Silent_p.T149T	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	304	C2.					cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GAGTGTTTTTCGTCAGGGTGC	0.542000														22			3		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234855777	234855777	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234855777G>A	uc002vvh.3	+	7	960	c.920G>A	c.(919-921)gGa>gAa	p.G307E	TRPM8_uc010fyj.3_5'UTR	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	307						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TTTGCCCAAGGAGGTGGAAAA	0.368000														50			21		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156834	155156834	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155156834G>A	uc003inw.2	-	24	7605	c.7605C>T	c.(7603-7605)ttC>ttT	p.F2535F		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2535					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F2535F(2)|p.F2535C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGCTGCTGGCGAACACTGCCA	0.388000														69			29		0	0	1	0	0
PPA2	27068	broad.mit.edu	37	4	106345444	106345444	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:106345444G>A	uc003hxl.3	-	6	584	c.564C>T	c.(562-564)atC>atT	p.I188I	PPA2_uc003hxn.3_Silent_p.I159I|PPA2_uc003hxo.3_Silent_p.I86I|PPA2_uc003hxp.3_Intron|PPA2_uc003hxq.3_Silent_p.I95I|PPA2_uc011cfa.1_Silent_p.I95I	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	Homo sapiens pyrophosphatase (inorganic) 2 (PPA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	188					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		AAATTCCAAGGATCTTCACAT	0.338000														83			35		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50781389	50781389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50781389C>T	uc010enu.1	+	29	3922	c.3875C>T	c.(3874-3876)tCc>tTc	p.S1292F	MYH14_uc002prq.1_Missense_Mutation_p.S1259F|MYH14_uc002prr.1_Missense_Mutation_p.S1251F|MYH14_uc010ycb.2_5'UTR	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1251					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCCGAGGTGTCCGAGCTGCGG	0.647000														29			6		0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54955914	54955914	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:54955914C>T	uc004dtq.3	+	11	2864	c.2757C>T	c.(2755-2757)ttC>ttT	p.F919F	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Silent_p.F450F|TRO_uc004dtw.3_Silent_p.F522F|TRO_uc004dtx.3_Silent_p.F302F	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	919	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GTATCTGCTTCGGTGGCTCTC	0.552000														22			16		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20448675	20448675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20448675C>T	uc002dhe.3	+	11	1669	c.1522C>T	c.(1522-1524)Ccc>Tcc	p.P508S		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	508					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CAGCCCAGACCCCATCAGGGG	0.572000														46			9		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24197023	24197023	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24197023G>A	uc003xdy.3	+	14	1695	c.1612G>A	c.(1612-1614)Ggg>Agg	p.G538R	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.G225R	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	538	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GAATGAAGGTGGGTCAAAGTA	0.458000														24			3		0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143055978	143055978	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143055978C>T	uc010lpa.3	-	4	552	c.408G>A	c.(406-408)agG>agA	p.R136R	FAM131B_uc010loz.3_Silent_p.R76R|FAM131B_uc003wct.3_Silent_p.R108R|FAM131B_uc003wcu.4_Silent_p.R108R|ZYX_uc011ktd.2_5'Flank	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	108										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CATCCGTATCCCTGCGCACGG	0.587000														38			12		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56477606	56477606	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56477606G>A	uc002qmh.3	+	4	2312	c.2241G>A	c.(2239-2241)ttG>ttA	p.L747L	NLRP8_uc010etg.3_Silent_p.L747L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	747						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCACCATGTTGAACCAGGACT	0.493000														123			55		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881335	33881335	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:33881335G>A	uc003jia.1	-	1	541	c.378C>T	c.(376-378)ctC>ctT	p.L126L	ADAMTS12_uc010iuq.1_Silent_p.L126L|ADAMTS12_uc003jib.1_Silent_p.L126L	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	126					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L126L(3)|p.L126F(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAACATGGGAGAGGTTCCCAT	0.502000										HNSCC(64;0.19)				86			28		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585343	7585343	+	Silent	SNP	G	A	A	rs148798300		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7585343G>A	uc003mxp.1	+	23	8127	c.7848G>A	c.(7846-7848)tcG>tcA	p.S2616S	DSP_uc003mxq.1_Silent_p.S2017S|DSP_uc021yle.1_Silent_p.S2173S	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2616	Globular 2.				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)		TGGAAGAATCGAGCCCCATTG	0.483000														94			46		0	0	1	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132912248	132912248	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:132912248C>T	uc002tti.3	-	3		c.848G>A			ANKRD30BL_uc002ttj.3_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B-like (ANKRD30BL), transcript variant 1, non-coding RNA.											endometrium(1)|kidney(3)	4						TTAAACTTATCAACTGCATTT	0.308000														17			3		0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141888811	141888811	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:141888811C>T	uc003iio.1	-	1	1355	c.701G>A	c.(700-702)aGg>aAg	p.R234K	RNF150_uc010iok.1_Intron|RNF150_uc003iip.1_Missense_Mutation_p.R234K	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	234						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					ATATCGAAACCTCTGGATGTA	0.378000														66			30		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113920	94113920	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:94113920G>A	uc001pet.2	-	3	839	c.667C>T	c.(667-669)Ctc>Ttc	p.L223F		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	223						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGCAGGCAGAGGGAGCGCACA	0.557000														40			13		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284448	159284448	+	Splice_Site	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159284448A>C	uc010piu.2	-	1	1	c.1_splice	c.e1-1	p.M1_splice		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TAGCTTTGGCATCAAGGTAGG	0.423000														173			40		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902356	51902356	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:51902356G>A	uc002iua.2	+	0	2118	c.1962G>A	c.(1960-1962)gaG>gaA	p.E654E	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	654					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTCTGACCGAGATCCAAAAGA	0.448000														50			12		0	0	1	0	0
PAK4	10298	broad.mit.edu	37	19	39660289	39660289	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39660289C>T	uc002okj.1	+	3	557	c.96C>T	c.(94-96)ttC>ttT	p.F32F	PAK4_uc002okl.1_Silent_p.F32F|PAK4_uc002okn.1_Silent_p.F32F|PAK4_uc002okm.1_Silent_p.F32F|PAK4_uc002oko.1_Silent_p.F32F|PAK4_uc002okp.1_Silent_p.F32F	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	32	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			AGCAGAAGTTCACGGGGCTGC	0.677000														61			20		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112162920	112162920	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:112162920G>C	uc003kpz.4	+	12	1717	c.1524G>C	c.(1522-1524)ttG>ttC	p.L508F	APC_uc011cvt.2_Missense_Mutation_p.L490F|APC_uc003kpy.4_Missense_Mutation_p.L508F|APC_uc010jbz.3_Missense_Mutation_p.L225F|APC_uc010jca.3_Intron	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	508	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGACAAACTTGACTTTTGGAG	0.333000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				80			8		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209179022	209179022	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:209179022C>T	uc002vcz.3	+	13	1859	c.1701C>T	c.(1699-1701)tcC>tcT	p.S567S	PIKFYVE_uc010fun.1_Silent_p.S248S|PIKFYVE_uc002vcy.1_Silent_p.S511S	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	567					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACTTAGAATCCTTATTTAATC	0.373000														85			30		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81661830	81661830	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81661830C>T	uc001szo.2	-	28	3508	c.3347G>A	c.(3346-3348)tGg>tAg	p.W1116*	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Nonsense_Mutation_p.W1015*|PPFIA2_uc021rbh.1_Nonsense_Mutation_p.W1011*|PPFIA2_uc021rbi.1_Nonsense_Mutation_p.W1110*|PPFIA2_uc021rbj.1_Nonsense_Mutation_p.W1095*|PPFIA2_uc021rbk.1_Nonsense_Mutation_p.W1101*|PPFIA2_uc021rbl.1_Nonsense_Mutation_p.W1116*|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Nonsense_Mutation_p.W652*|PPFIA2_uc021rbf.1_Nonsense_Mutation_p.W302*	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	1015										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGCTTGTATCCAGCGAATAAC	0.373000														7			6		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34111984	34111984	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34111984C>T	uc001zhi.3	+	76	10804	c.10734C>T	c.(10732-10734)acC>acT	p.T3578T	RYR3_uc010bar.3_Silent_p.T3573T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3578					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTTGTACACCTCCTATTCCA	0.353000														331			135		0	0	1	0	0
PDCD10	11235	broad.mit.edu	37	3	167437899	167437899	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:167437899G>A	uc003fez.3	-	1	221	c.47C>T	c.(46-48)tCc>tTc	p.S16F	PDCD10_uc003fex.3_Missense_Mutation_p.S16F|PDCD10_uc003fey.3_Missense_Mutation_p.S16F	NM_145860	NP_665859	Q9BUL8	PDC10_HUMAN	Homo sapiens programmed cell death 10 (PDCD10), transcript variant 3, mRNA.	16					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of MAP kinase activity|positive regulation of cell proliferation	Golgi membrane|cytosol|plasma membrane	protein N-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						AGAAACCATGGATGTGGTCTC	0.398000														76			30		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61844941	61844941	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61844941G>A	uc001jky.3	-	30	4157	c.3819C>T	c.(3817-3819)gtC>gtT	p.V1273V	ANK3_uc001jkw.3_Silent_p.V407V|ANK3_uc009xpa.3_Silent_p.V407V|ANK3_uc001jkx.3_Silent_p.V451V|ANK3_uc010qih.2_Silent_p.V1274V|ANK3_uc001jkz.4_Silent_p.V1267V|ANK3_uc001jla.1_Silent_p.V339V|ANK3_uc001jlb.1_Silent_p.V791V|ANK3_uc001jkv.3_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1273					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						TTGTAAAGGAGACACAATCTT	0.383000														87			28		0	0	1	0	0
MORN1	79906	broad.mit.edu	37	1	2288981	2288982	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:2288981_2288982GG>AA	uc001ajb.1	-	9	946_947	c.925_926CC>TT	c.(925-927)ccc>TTc	p.P309F	MORN1_uc009vld.3_Missense_Mutation_p.P285F|MORN1_uc001ajd.1_Missense_Mutation_p.P309F	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	Homo sapiens MORN repeat containing 1 (MORN1), mRNA.	309										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GGCAGCTCTGGGCCCCGGCACC	0.653000														101			37		0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606458	55606458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55606458C>T	uc010rio.2	+	0	231	c.231C>T	c.(229-231)tcC>tcT	p.S77S		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCTATTCCTCCATCATTGCTC	0.398000														231			90		0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228600	57228600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:57228600C>T	uc010lyk.1	-	1	945	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	SDR16C5_uc003xsy.1_Missense_Mutation_p.E103K|SDR16C5_uc010lyl.1_Missense_Mutation_p.E103K	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	103					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TACACTCCTTCCTTTTGGCTG	0.448000														113			35		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642421	57642421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57642421G>A	uc002qny.3	+	3	2734	c.2378G>A	c.(2377-2379)gGa>gAa	p.G793E	USP29_uc021vci.1_Missense_Mutation_p.G793E	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	793					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			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)		GACAACCCAGGAAACAAAAAC	0.468000														27			6		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232666	21232666	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21232666C>T	uc002red.3	-	25	7202	c.7074G>A	c.(7072-7074)atG>atA	p.M2358I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2358					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTAATTTATCCATTAAAACCT	0.373000														60			14		0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27690811	27690811	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27690811G>A	uc001bny.1	-	3	828	c.579C>T	c.(577-579)ggC>ggT	p.G193G	MAP3K6_uc009vsw.1_Silent_p.G185G|MAP3K6_uc001bnz.1_5'Flank	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	193					activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCCGCAGAAGGCCTGCATCAC	0.662000														94			33		0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18871008	18871008	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:18871008G>A	uc002dfm.3	-	26	4186	c.3823C>T	c.(3823-3825)Cct>Tct	p.P1275S	SMG1_uc010bwb.3_Missense_Mutation_p.P1135S|SMG1_uc010bwa.3_Missense_Mutation_p.P6S	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	1275	FAT.|Interaction with SMG8 and SMG9.		P -> R.		DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AACATGTTAGGAAGCAGTTTT	0.313000														40			21		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130283963	130283963	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130283963G>A	uc010htl.3	+	2	818	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	263	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGACATAAAGGAAAATTGCAT	0.393000														128			35		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64981737	64981737	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:64981737G>A	uc002eoi.3	-	12	2594	c.2160C>T	c.(2158-2160)ttC>ttT	p.F720F	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_3'UTR|CDH11_uc010vin.2_Silent_p.F594F	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	720					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCGTGTTGATGAAGTCATCGA	0.532000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				78			34		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516601	140516601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140516601C>T	uc003liq.3	+	0	1802	c.1585C>T	c.(1585-1587)Cgc>Tgc	p.R529C		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	529	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R529C(2)|p.R529R(2)|p.R529H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGAGTTCCGCGTGGGAGC	0.682000														88			55		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192507	66192507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66192507G>A	uc001ohx.1	+	6	2322	c.2146G>A	c.(2146-2148)Gat>Aat	p.D716N	NPAS4_uc010rpc.1_Missense_Mutation_p.D506N	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	716					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						CATCTTCATGGATCTCTCTAC	0.592000														71			45		0	0	1	0	0
PLEKHB2	55041	broad.mit.edu	37	2	132110663	132110663	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:132110663G>A	uc002tsh.2	+	6	1054	c.494G>A	c.(493-495)cGa>cAa	p.R165Q				Q96CS7	PKHB2_HUMAN	Homo sapiens pleckstrin homology domain containing, family B (evectins) member 2 (PLEKHB2), transcript variant 2, mRNA.	0						membrane	protein binding	p.G164G(1)		large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		CTCCCAACGCGATGTTTTTTT	0.448000														26			13		0	0	1	0	0
RBMY2EP	159125	broad.mit.edu	37	Y	23557655	23557655	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:23557655C>T	uc004fun.1	-	3		c.321G>A								Homo sapiens RNA binding motif protein, Y-linked, family 2, member E pseudogene (RBMY2EP), non-coding RNA.																		CCACGGGTTTCGTCGTAGCCA	0.299000														2			6		0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18671986	18671987	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:18671986_18671987CC>TT	uc002gul.3	+	8	2163_2164	c.1931_1932CC>TT	c.(1930-1932)ccc>cTT	p.P644L	FBXW10_uc002guj.3_Missense_Mutation_p.P615L|FBXW10_uc002guk.3_Missense_Mutation_p.P615L|FBXW10_uc010cqh.2_Missense_Mutation_p.P615L	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	615										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TTCAAGCATCCCAAGTAGGTGC	0.569000														16			24		0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934842	113934842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113934842G>A	uc001pop.3	+	1	1084	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	ZBTB16_uc001poo.1_Missense_Mutation_p.E274K|ZBTB16_uc001poq.3_Missense_Mutation_p.E274K	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	274					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	p.E274*(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CAAGGTTGAGGAAAGAGGCAA	0.627000														31			19		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328333	80328333	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:80328333G>A	uc003hlu.3	-	0	1040	c.1022C>T	c.(1021-1023)aCc>aTc	p.T341I		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	341					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GTCTCCTGAGGTCTCTATAAT	0.438000														138			54		0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183774774	183774774	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183774774C>T	uc003fmk.3	+	4	535	c.501C>T	c.(499-501)ttC>ttT	p.F167F		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	167						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGGACATCTTCTACTTCCCTT	0.443000														271			18		0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68903887	68903887	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:68903887G>A	uc001dei.1	-	9	1165	c.1111C>T	c.(1111-1113)Cct>Tct	p.P371S		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	371					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.P371H(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ATATTCAAAGGAAGTACATAT	0.373000														45			20		0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487829	248487829	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248487829G>A	uc010pzk.2	-	0	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			AGATTCCCAGGAGGAGGAAGT	0.453000														303			24		0	0	1	0	0
ING3	54556	broad.mit.edu	37	7	120608053	120608053	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:120608053C>T	uc003vjn.3	+	7	756	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	ING3_uc003vjo.3_5'UTR|ING3_uc003vjp.3_Silent_p.L208L|ING3_uc011kns.2_Silent_p.L193L	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.	208					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					CTCCCAACCTCTGGGATCCTA	0.428000														55			25		0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109249363	109249363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:109249363C>T	uc003pss.4	+	10	1597	c.1423C>T	c.(1423-1425)Ccc>Tcc	p.P475S	ARMC2_uc011eao.2_Missense_Mutation_p.P310S	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	475							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CAGTGCCCTTCCCCAGCTCTG	0.438000														113			19		0	0	1	0	0
KRTAP12-4	386684	broad.mit.edu	37	21	46074281	46074281	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46074281G>A	uc002zfs.1	-	0	296	c.251C>T	c.(250-252)tCc>tTc	p.S84F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198698	NP_941971	P60329	KR124_HUMAN	Homo sapiens keratin associated protein 12-4 (KRTAP12-4), mRNA.	84	15 X 5 AA approximate repeats.					keratin filament				lung(4)|ovary(1)|prostate(1)	6						TGGGCAGAAGGAAGCCACACA	0.647000														43			21		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112693	148112693	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:148112693G>A	uc003weu.2	+	23	4497	c.3981G>A	c.(3979-3981)aaG>aaA	p.K1327K	CNTNAP2_uc003wev.2_Silent_p.K104K	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1327					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAAGCAAAAAGGAATGGCTCA	0.522000										HNSCC(39;0.1)				48			31		0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102851526	102851526	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:102851526G>A	uc002tbs.3	+	10	1593	c.1467G>A	c.(1465-1467)gaG>gaA	p.E489E	IL1RL2_uc002tbt.3_Silent_p.E371E	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	489	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTGAGCTGGAGAAAATCGAGG	0.512000														87			33		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83350314	83350314	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83350314G>A	uc010uoi.2	-	4	556	c.379C>T	c.(379-381)Cgt>Tgt	p.R127C	AP3B2_uc010uoh.2_Missense_Mutation_p.R127C|AP3B2_uc010uoj.2_Missense_Mutation_p.R95C|AP3B2_uc010uog.2_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	127					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCACTGGCACGAATCAGCTGG	0.572000														66			20		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79066542	79066542	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:79066542G>A	uc002bej.4	-	12	2188	c.1977C>T	c.(1975-1977)gcC>gcT	p.A659A	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Silent_p.A659A	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	659	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGTCCCGGCTGGCTCGGACCT	0.662000														13			5		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17474704	17474704	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17474704C>T	uc001mnc.3	-	6	1264	c.1138G>A	c.(1138-1140)Gcc>Acc	p.A380T	ABCC8_uc010rcy.1_Missense_Mutation_p.A379T	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	380	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GTTTCAATGGCCACATAGTAG	0.418000														98			27		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088726	9088726	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9088726G>A	uc002mkp.3	-	0	3293	c.3089C>T	c.(3088-3090)cCa>cTa	p.P1030L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1030	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						CATAGAGCCTGGGCCATTCGT	0.478000														116			54		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130286134	130286134	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:130286134G>A	uc001qgg.4	-	3	1546	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	396	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCAGGTGGACGAACAGCGGTG	0.677000														9			4		0	0	1	0	0
STX4	6810	broad.mit.edu	37	16	31045633	31045633	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31045633C>T	uc002eal.3	+	2	443	c.219C>T	c.(217-219)ccC>ccT	p.P73P	STX4_uc002eak.3_Silent_p.P71P|STX4_uc002eam.3_5'UTR	NM_004604	NP_004595	Q12846	STX4_HUMAN	Homo sapiens syntaxin 4 (STX4), mRNA.	73					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TGGCCACGCCCCTTCCCGAGG	0.602000														74			41		0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3784165	3784165	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3784165C>T	uc002lyt.3	-	4	719	c.319G>A	c.(319-321)Gag>Aag	p.E107K	MATK_uc002lyv.3_Missense_Mutation_p.E108K|MATK_uc002lyu.3_Missense_Mutation_p.E66K|MATK_uc010dtq.3_Missense_Mutation_p.E107K	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	107	SH3.			ER -> DG (in Ref. 1; AAA16703).	cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCCCGCTCCCGCAGCGCC	0.677000														56			17		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136529031	136529031	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:136529031T>A	uc004cep.4	-	20	2871	c.2737A>T	c.(2737-2739)Agg>Tgg	p.R913W	SARDH_uc004ceo.3_Missense_Mutation_p.R913W|SARDH_uc011mdo.2_Missense_Mutation_p.R745W|SARDH_uc011mdn.2_Missense_Mutation_p.R913W|SARDH_uc004cen.3_Missense_Mutation_p.R363W	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	913					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	p.K912E(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCCTTCACCCTCTTGTTGTTG	0.592000														121			35		0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186646786	186646786	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:186646786G>A	uc001gsb.3	-	4	771	c.634C>T	c.(634-636)Cat>Tat	p.H212Y	PTGS2_uc009wyo.3_Missense_Mutation_p.H59Y	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	212					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	CTTACCCCATGGCCCAGCCCG	0.408000														105			47		0	0	1	0	0
HEYL	26508	broad.mit.edu	37	1	40105220	40105220	+	Silent	SNP	C	T	T	rs139547686	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:40105220C>T	uc001cdp.3	-	0	129	c.78G>A	c.(76-78)ctG>ctA	p.L26L		NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA.	26					Notch signaling pathway|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCCCTTACCTCAGCTGGCCCT	0.741000														15			6		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55268032	55268032	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55268032C>T	uc003tqk.3	+	23	3118	c.2872C>T	c.(2872-2874)Cgc>Tgc	p.R958C	EGFR_uc022adm.1_Missense_Mutation_p.R958C|EGFR_uc010kzg.2_Missense_Mutation_p.R913C|EGFR_uc022adn.1_Missense_Mutation_p.R913C|EGFR_uc011kco.2_Missense_Mutation_p.R905C	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	958	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CGCAGATAGTCGCCCAAAGTT	0.458000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				101			29		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220636	130220636	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:130220636G>A	uc004evz.3	+	10	1828	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	ARHGAP36_uc004ewa.3_Missense_Mutation_p.E483K|ARHGAP36_uc004ewb.3_Missense_Mutation_p.E464K|ARHGAP36_uc004ewc.3_Missense_Mutation_p.E359K	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	495					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCCTTCTGATGAAGGTCAGTT	0.537000														19			20		0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41795943	41795943	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:41795943G>A	uc003ckv.4	-	21	2432	c.2231C>T	c.(2230-2232)cCc>cTc	p.P744L		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	744							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GCATGTTGAGGGGCTGTCAAG	0.368000														83			16		0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160458917	160458917	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160458917C>T	uc001fwe.2	-	5	910	c.840G>A	c.(838-840)acG>acA	p.T280T	SLAMF6_uc010pji.2_Silent_p.T169T|SLAMF6_uc001fwd.2_Silent_p.T279T|SLAMF6_uc010pjh.2_Silent_p.T230T|SLAMF6_uc010pjj.2_3'UTR	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	280						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CAGTGTTGTTCGTTGGAGACA	0.443000														101			43		0	0	1	0	0
INO80E	283899	broad.mit.edu	37	16	30016748	30016748	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30016748C>T	uc002dvg.1	+	6	821	c.720C>T	c.(718-720)atC>atT	p.I240I	BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_Non-coding_Transcript	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN	Homo sapiens INO80 complex subunit E (INO80E), mRNA.	240					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						ACCTGGTGATCGACATCCCGG	0.662000											OREG0023725	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			5		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7989454	7989454	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7989454G>A	uc002gjy.1	-	1	493	c.232C>T	c.(232-234)Ccc>Tcc	p.P78S	MIR4314_uc021tpn.1_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	78	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGGTCCTTGGGGAAGAAGGCG	0.592000										Multiple Myeloma(8;0.094)				26			24		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142566816	142566816	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142566816C>T	uc011kst.2	+	15	3160	c.2373C>T	c.(2371-2373)ttC>ttT	p.F791F	EPHB6_uc011ksu.2_Silent_p.F791F|EPHB6_uc003wbs.3_Silent_p.F499F|EPHB6_uc003wbt.3_Silent_p.F265F|EPHB6_uc003wbu.3_Silent_p.F499F|EPHB6_uc003wbv.3_Silent_p.F175F	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	791	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCTTTGCCTTCGTCCATCGCT	0.632000														38			10		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22047044	22047044	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:22047044A>T	uc001rfh.3	-	11	1744	c.1724T>A	c.(1723-1725)cTg>cAg	p.L575Q	ABCC9_uc001rfi.1_Missense_Mutation_p.L575Q	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	575	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAAGAGAGACAGTGAAGCAAA	0.478000														97			13		0	0	1	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72958220	72958220	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72958220G>A	uc010uks.1	+	15	1835	c.1794G>A	c.(1792-1794)gaG>gaA	p.E598E	DQ582073_uc002aux.1_5'Flank|DQ577530_uc002auy.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	598										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						AGGAGGAGGAGATGAAGGTAG	0.627000														321			32		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139216801	139216801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:139216801G>A	uc003leu.1	+	10	1848	c.1643G>A	c.(1642-1644)gGg>gAg	p.G548E		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	548	PH.				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)			GTGCTCAAAGGGACCATCCTG	0.622000														66			34		0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11102947	11102947	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11102947G>A	uc001aru.3	-	5	906	c.874C>T	c.(874-876)Cac>Tac	p.H292Y		NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	292	CUB 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CTCGTGTAGTGGATCTTCCAG	0.532000														92			42		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71004250	71004250	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:71004250C>T	uc003pfg.4	-	4	475	c.316G>A	c.(316-318)Gga>Aga	p.G106R		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	106	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCAGGCAGTCCACTGGGATAT	0.388000														81			47		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45555787	45555787	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:45555787C>T	uc010dnv.3	-	3	2206	c.1770G>A	c.(1768-1770)agG>agA	p.R590R	ZBTB7C_uc002ldb.3_Silent_p.R568R|ZBTB7C_uc010dnu.3_Silent_p.R577R|ZBTB7C_uc010dnw.3_Silent_p.R568R	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	568						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CCCCCGCGTTCCTCTCAGCCT	0.736000														10			5		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81744996	81744996	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:81744996G>A	uc010tvu.2	-	3	857	c.659C>T	c.(658-660)cCt>cTt	p.P220L	STON2_uc001xvk.1_Missense_Mutation_p.P220L|STON2_uc010tvt.2_Missense_Mutation_p.P17L	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	220					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGGAGGGGCAGGGTGCCCATT	0.532000														49			27		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143748223	143748223	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143748223C>T	uc011ktw.2	+	0	729	c.729C>T	c.(727-729)tcC>tcT	p.S243S		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CCTGCTCCTCCCACCTTTGCA	0.617000														179			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176128	140176128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140176128G>A	uc003lhd.2	+	0	1685	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E527K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E527K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	541	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCACGAGGAAGTGGAGCT	0.687000														122			47		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672571	186672571	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:186672571G>A	uc002upl.3	+	16	18805	c.18805G>A	c.(18805-18807)Gaa>Aaa	p.E6269K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TAACATAATAGAAGAAATTGC	0.303000														48			16		0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127954827	127954827	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:127954827G>A	uc003vmp.2	-	16	2150	c.2035C>T	c.(2035-2037)Ccc>Tcc	p.P679S	RBM28_uc011koj.1_Missense_Mutation_p.P538S	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	679					RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTGATTTTGGGGCCTCGGTGT	0.532000														259			79		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086521	9086521	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9086521C>T	uc002mkp.3	-	0	5498	c.5294G>A	c.(5293-5295)gGc>gAc	p.G1765D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1765	Ser-rich.|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						AAATGTGCTGCCCCCTATGAA	0.502000														73			6		0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793946	17793946	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17793946C>T	uc009yhc.1	+	1	1360	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	KCNC1_uc001mnk.4_Silent_p.I435I	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	435						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGCCCGTCATCGTGAACAATT	0.567000														82			26		0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142681066	142681066	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:142681066G>A	uc003evg.3	-	0	1113	c.1113C>T	c.(1111-1113)tcC>tcT	p.S371S	PAQR9_uc003evf.1_Non-coding_Transcript	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	Homo sapiens progestin and adipoQ receptor family member IX (PAQR9), mRNA.	371						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						TGCAGAATTCGGAGCTGTTTA	0.527000														127			41		0	0	1	0	0
HOXB4	3214	broad.mit.edu	37	17	46654296	46654296	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:46654296G>A	uc002inp.3	-	1	606	c.544C>T	c.(544-546)Cac>Tac	p.H182Y	HOXB3_uc010wlm.2_Intron|HOXB3_uc010dbf.3_Intron|HOXB3_uc010dbg.3_Intron|HOXB3_uc002ino.3_5'Flank|HOXB3_uc010wlk.2_5'Flank|HOXB3_uc010wll.2_Intron	NM_024015	NP_076920	P17483	HXB4_HUMAN	Homo sapiens homeobox B4 (HOXB4), mRNA.	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						CGGTTGTAGTGAAATTCCTTC	0.632000														58			60		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48370691	48370691	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48370691G>A	uc001jex.3	+	1	321	c.159G>A	c.(157-159)acG>acA	p.T53T	ZNF488_uc021ppx.1_Silent_p.T53T	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TCGAGAAGACGAACCGCCTGG	0.677000														59			25		0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78210729	78210729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:78210729C>T	uc002jyb.2	+	7	1045	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	SLC26A11_uc002jyc.2_Missense_Mutation_p.R247C|SLC26A11_uc002jyd.2_Missense_Mutation_p.R247C|SLC26A11_uc010dhv.2_Missense_Mutation_p.R247C	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	247						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCTCCTAGCTCGCAACGCCCT	0.632000														166			71		0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	85926837	85926837	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:85926837G>A	uc004ams.2	-	7	940	c.738C>T	c.(736-738)gtC>gtT	p.V246V	FRMD3_uc004amr.1_Silent_p.V246V|FRMD3_uc022bja.1_Silent_p.V202V|FRMD3_uc022biz.1_Silent_p.V52V	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	246	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TTCCCTGAAAGACCACAAAGC	0.353000														61			21		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30260457	30260457	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:30260457C>T	uc002kxm.1	-	5	1732	c.1344G>A	c.(1342-1344)acG>acA	p.T448T		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	448						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GCCATTCATTCGTTTCTAGGT	0.473000														78			36		0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46914910	46914910	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46914910C>T	uc002pep.3	-	0	2010	c.1158G>A	c.(1156-1158)gaG>gaA	p.E386E		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	386						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TATCTGCAGCCTCTTCCCTGT	0.577000														237			20		0	0	1	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378989	142378989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142378989C>T	uc003waa.1	+	1	257	c.257C>T	c.(256-258)tCc>tTc	p.S86F	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TCAACAGTCTCCAGAATAAGG	0.483000														71			28		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39906027	39906027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39906027G>A	uc010xuz.2	+	3	752	c.427G>A	c.(427-429)Gag>Aag	p.E143K	PLEKHG2_uc010xuy.2_Missense_Mutation_p.E84K|PLEKHG2_uc002olj.3_Missense_Mutation_p.E143K|PLEKHG2_uc010xva.2_5'UTR	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	143	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	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCTGAGCGTGGAGCAGGTGGG	0.647000														42			22		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138999	126138999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:126138999C>T	uc001uhe.1	+	8	2988	c.2980C>T	c.(2980-2982)Cat>Tat	p.H994Y	TMEM132B_uc001uhf.1_Missense_Mutation_p.H506Y	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	994						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)		GAAGACTTTTCATAGTCAACT	0.448000														27			13		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664162	44664162	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44664162G>A	uc010zxl.1	+	2	412	c.336G>A	c.(334-336)aaG>aaA	p.K112K	SLC12A5_uc002xra.2_Silent_p.K89K|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Silent_p.K89K	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	112					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGGAAAAAAGAAGCCGGTGC	0.557000														42			18		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174230	51174230	+	Missense_Mutation	SNP	G	A	A	rs61731136	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:51174230G>A	uc021tif.1	-	1	1934	c.1612C>T	c.(1612-1614)Ccg>Tcg	p.P538S	SALL1_uc021tid.1_Missense_Mutation_p.P538S|SALL1_uc021tie.1_Missense_Mutation_p.P635S|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	635					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTCGCCGTCGGGACTGAGTTG	0.632000														47			24		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531100	50531100	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50531100G>A	uc021pqb.1	+	0	510	c.510G>A	c.(508-510)ctG>ctA	p.L170L	C10orf71_uc021pqa.1_Silent_p.L169L|C10orf71_uc021pqc.1_Silent_p.L170L	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	170										endometrium(1)	1						CTCCGGCTCTGAAAAATCCTC	0.498000														35			11		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156924090	156924090	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156924090G>A	uc003lwz.3	-	13	1485	c.1406C>T	c.(1405-1407)gCt>gTt	p.A469V	ADAM19_uc003lww.2_Missense_Mutation_p.A202V|ADAM19_uc003lwy.3_Missense_Mutation_p.A68V|ADAM19_uc011ddr.1_Missense_Mutation_p.A400V	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	469	Disintegrin.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTCCCAGGAGCCAACAGCTG	0.567000														28			6		0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108863374	108863374	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:108863374G>A	uc001vqn.3	-	1	516	c.243C>T	c.(241-243)gcC>gcT	p.A81A	LIG4_uc001vqo.3_Silent_p.A81A|LIG4_uc010agf.3_Silent_p.A81A|LIG4_uc001vqp.3_Silent_p.A81A|LIG4_uc010agg.1_Silent_p.A14A|LIG4_uc021rmk.1_Silent_p.A81A	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	81					DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TAATTCCATAGGCCATTCTCT	0.353000								Non-homologous end-joining						125			38		0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235596	127235596	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:127235596C>T	uc003vmd.2	+	1	599	c.380C>T	c.(379-381)tCc>tTc	p.S127F	FSCN3_uc003vmc.1_Missense_Mutation_p.S82F|FSCN3_uc011kog.1_Non-coding_Transcript|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.2_Missense_Mutation_p.S127F	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	127						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TTTTGCACTTCCCACGTCCTC	0.572000														42			16		0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86905850	86905850	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:86905850G>A	uc001dlr.4	+	7	1385	c.1223G>A	c.(1222-1224)gGa>gAa	p.G408E		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	408	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AAACTGAATGGAAAAGCTTAT	0.393000														139			51		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114181785	114181785	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:114181785G>A	uc001kzu.3	+	15	1748	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	ACSL5_uc001kzs.3_Missense_Mutation_p.E490K|ACSL5_uc001kzt.3_Missense_Mutation_p.E490K|ACSL5_uc009xxz.3_Missense_Mutation_p.E490K|ACSL5_uc010qrj.2_Missense_Mutation_p.E272K	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	490					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGTGAATAATGAAGGAGAGGT	0.473000														59			28		0	0	1	0	0
LIAS	11019	broad.mit.edu	37	4	39465209	39465209	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:39465209C>T	uc003guf.3	+	3	450	c.377C>T	c.(376-378)gCc>gTc	p.A126V	LIAS_uc003gue.4_Missense_Mutation_p.A126V|LIAS_uc011bym.2_Missense_Mutation_p.P95S|LIAS_uc003gug.3_Missense_Mutation_p.A126V	NM_006859	NP_006850	O43766	LIAS_HUMAN	Homo sapiens lipoic acid synthetase (LIAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	126					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	TATGCCACCGCCACAGCCACG	0.458000														34			11		0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30889982	30889982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:30889982G>A	uc003xin.3	-	0	336	c.317C>T	c.(316-318)aCc>aTc	p.T106I	WRN_uc003xio.4_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.T106I	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	Homo sapiens purine-rich element binding protein G (PURG), transcript variant A, mRNA.	106						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CAGGGAGAGGGTCAGTTTACT	0.577000														61			24		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	120439	120439	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000209.1:120439C>T	uc010yie.2	+	3	402	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.L128F|KIR2DL2_uc002qum.3_Missense_Mutation_p.L131F	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	131					regulation of immune response	integral to membrane|plasma membrane	receptor activity										GAAACCTTCTCTCTCAGCCCA	0.557000														199			63		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327454	57327454	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57327454C>T	uc002qnu.2	-	6	2707	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E757K|PEG3_uc002qnv.2_Missense_Mutation_p.E786K|PEG3_uc002qnw.2_Missense_Mutation_p.E662K|PEG3_uc002qnx.2_Missense_Mutation_p.E660K|PEG3_uc010etr.2_Missense_Mutation_p.E786K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	786					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCTGAGCTTCCACAGAGGCT	0.433000														204			85		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1095344	1095344	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1095344C>T	uc001lsx.1	+	33	6179	c.6152C>T	c.(6151-6153)cCt>cTt	p.P2051L		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4417						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GACTTTGATCCTCCCAGACAG	0.682000														27			8		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197403941	197403941	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197403941G>A	uc001gtz.3	+	8	3157	c.2948G>A	c.(2947-2949)aGg>aAg	p.R983K	CRB1_uc010poz.2_Missense_Mutation_p.R959K|CRB1_uc009wza.3_Missense_Mutation_p.R871K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.R464K|CRB1_uc001gub.1_Missense_Mutation_p.R632K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	983	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTCAGAACAAGGGATGCAAAT	0.338000														107			21		0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242794827	242794827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242794827G>A	uc002wcq.4	-	1	450	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	PDCD1_uc010fzs.3_Silent_p.L59L|PDCD1_uc010fzt.3_Intron	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	Homo sapiens programmed cell death 1 (PDCD1), mRNA.	128	Ig-like V-type.				T cell costimulation|apoptosis|humoral immune response|multicellular organismal development	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		TTGGGGGCCAGGGAGATGGCC	0.677000														41			15		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45633599	45633599	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:45633599C>T	uc002xsm.3	+	3	548	c.174C>T	c.(172-174)ctC>ctT	p.L58L	EYA2_uc010ghp.3_Silent_p.L58L|EYA2_uc002xsq.3_Silent_p.L58L	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	58					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CACGTGTCCTCCCCCGCCAGC	0.572000														119			18		0	0	1	0	0
CCL8	6355	broad.mit.edu	37	17	32647341	32647341	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:32647341C>T	uc002hib.3	+	1	585	c.130C>T	c.(130-132)Cct>Tct	p.P44S		NM_005623	NP_005614	P80075	CCL8_HUMAN	Homo sapiens chemokine (C-C motif) ligand 8 (CCL8), mRNA.	44					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TAGGAAAATTCCTATCCAGAG	0.443000														45			9		0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24185170	24185170	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:24185170G>A	uc003ccz.4	-	8	1080	c.560C>T	c.(559-561)gCc>gTc	p.A187V	THRB_uc010hfe.3_Missense_Mutation_p.A187V|THRB_uc003ccy.4_Missense_Mutation_p.A187V|THRB_uc003ccx.4_Missense_Mutation_p.A187V	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	187					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CTTCCTCTTGGCCAGCCTCTT	0.572000														83			6		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907971	12907971	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12907971C>T	uc010obf.2	-	1	398	c.172G>A	c.(172-174)Gat>Aat	p.D58N	LOC649330_uc009vno.2_Missense_Mutation_p.D58N	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	58							nucleic acid binding|nucleotide binding	p.D58N(1)									TTCTCCTTATCATATTGAACG	0.468000														278			32		0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119156009	119156009	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:119156009C>T	uc001pwe.3	+	10	1812	c.1674C>T	c.(1672-1674)tcC>tcT	p.S558S		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	558	Pro-rich.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GAGCAGAATCCCGACCTCAAA	0.577000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies		OREG0021401	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		72			25		0	0	1	0	0
C4orf26	152816	broad.mit.edu	37	4	76489459	76489459	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:76489459C>T	uc011cbo.2	+	2	282	c.247C>T	c.(247-249)Cca>Tca	p.P83S	C4orf26_uc011cbn.2_Non-coding_Transcript|C4orf26_uc003hip.2_Missense_Mutation_p.P68L	NM_001206981	NP_001193910	Q17RF5	CD026_HUMAN	Homo sapiens chromosome 4 open reading frame 26 (C4orf26), transcript variant 1, mRNA.	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACAAAGACACCCAGGTGTCCC	0.522000														89			31		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28710546	28710546	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28710546C>T	uc002kwn.3	-	15	2878	c.2616G>A	c.(2614-2616)gaG>gaA	p.E872E	DSC1_uc002kwm.3_3'UTR|BC042382_uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	872					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACTCCAGTCCCTCTTCTTCCT	0.423000														196			40		0	0	1	0	0
AK098438	0	broad.mit.edu	37	1	21754289	21754289	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:21754289G>A	uc001bep.1	-	0		c.12C>T								Homo sapiens cDNA FLJ25572 fis, clone JTH05111.																		TCCAAGTCAAGAGCCAAGCCA	0.468000														149			27		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183675836	183675836	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:183675836C>T	uc003ivd.1	+	20	4391	c.4316C>T	c.(4315-4317)tCc>tTc	p.S1439F	ODZ3_uc003ive.1_Missense_Mutation_p.S852F	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1439					signal transduction	integral to membrane		p.S1439F(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGAGAAATCTCCTTAGTGGCC	0.468000														39			16		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56372893	56372893	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56372893C>T	uc002qmd.4	+	3	2420	c.1998C>T	c.(1996-1998)agC>agT	p.S666S	NLRP4_uc002qmf.3_Silent_p.S591S|NLRP4_uc010etf.3_Silent_p.S497S	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	666							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGCATCCCAGCTGTCGCCTTC	0.557000														58			24		0	0	1	0	0
FAM70A	55026	broad.mit.edu	37	X	119419520	119419520	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:119419520G>A	uc004eso.4	-	5	682	c.455C>T	c.(454-456)tCc>tTc	p.S152F	FAM70A_uc004esp.4_Intron|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	152						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						AACCCTCGTGGAAGGAGAATT	0.448000														27			22		0	0	1	0	0
ZBP1	81030	broad.mit.edu	37	20	56189956	56189956	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:56189956C>T	uc002xyo.3	-	3	770	c.489G>A	c.(487-489)acG>acA	p.T163T	ZBP1_uc010gjm.3_Silent_p.T163T|ZBP1_uc002xyp.3_Silent_p.T88T|ZBP1_uc010zzn.2_Silent_p.T163T	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	163						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGCGGTAAATCGTCCATGCTT	0.552000														128			50		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128342409	128342409	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:128342409C>T	uc002top.3	+	13	1664	c.1611C>T	c.(1609-1611)gcC>gcT	p.A537A		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	537	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACAACAAGGCCTTCCTACAGC	0.557000														110			23		0	0	1	0	0
APP	351	broad.mit.edu	37	21	27284094	27284094	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:27284094G>A	uc002ylz.3	-	13	2068	c.1868C>T	c.(1867-1869)tCt>tTt	p.S623F	APP_uc011acg.2_Missense_Mutation_p.S131F|APP_uc010glk.3_Missense_Mutation_p.S599F|APP_uc002yma.3_Missense_Mutation_p.S604F|APP_uc011ach.2_Missense_Mutation_p.S567F|APP_uc021whz.1_Missense_Mutation_p.S623F|APP_uc021wia.1_Missense_Mutation_p.S604F|APP_uc002ymb.3_Missense_Mutation_p.S548F|APP_uc010glj.3_Missense_Mutation_p.S492F|APP_uc021wib.1_Missense_Mutation_p.S548F|APP_uc011aci.2_Missense_Mutation_p.S513F	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	623					G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				AGCCCCAAAAGAATGCCACGG	0.522000														45			6		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56139282	56139282	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:56139282C>T	uc002xyn.4	+	6	1182	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	PCK1_uc010zzm.2_Missense_Mutation_p.S23L	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	340					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCTGGGACTTCAGTGAAGACC	0.507000														61			31		0	0	1	0	0
VSIG1	340547	broad.mit.edu	37	X	107310234	107310234	+	Silent	SNP	C	T	T	rs138849840	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:107310234C>T	uc011msk.2	+	3	551	c.390C>T	c.(388-390)aaC>aaT	p.N130N	VSIG1_uc004eno.3_Silent_p.N94N	NM_001170553	NP_001164024	Q86XK7	VSIG1_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA.	94	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CAGGGTCCAACGATCCAGGTA	0.438000														61			6		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206166389	206166389	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:206166389G>A	uc002var.2	+	17	2801	c.2594G>A	c.(2593-2595)aGg>aAg	p.R865K	PARD3B_uc010fub.2_Missense_Mutation_p.R865K|PARD3B_uc002vao.2_Missense_Mutation_p.R865K|PARD3B_uc002vap.2_Missense_Mutation_p.R803K|PARD3B_uc002vaq.2_Missense_Mutation_p.R796K	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	865	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		gatccagaaaggaaaataaag	0.418000														29			12		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113353798	113353798	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:113353798G>A	uc003ynu.3	-	41	6719	c.6560C>T	c.(6559-6561)cCa>cTa	p.P2187L	CSMD3_uc003yns.3_Missense_Mutation_p.P1389L|CSMD3_uc003ynt.3_Missense_Mutation_p.P2147L|CSMD3_uc011lhx.2_Missense_Mutation_p.P2083L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2187	CUB 12.					integral to membrane|plasma membrane				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						TAAGGAAGATGGTATTTGAGG	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				70			24		0	0	1	0	0
PAOX	196743	broad.mit.edu	37	10	135193892	135193892	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:135193892G>A	uc001lmv.3	+	1	651	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	PAOX_uc001lmx.3_Missense_Mutation_p.E191K|PAOX_uc001lmy.3_Missense_Mutation_p.E191K|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Intron|PAOX_uc001lnb.3_Non-coding_Transcript|PAOX_uc001lnc.3_Intron|PAOX_uc001lmw.3_Intron	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.	329					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	p.L190V(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		CTTCAACCTGGAATGCTGTGT	0.597000														36			8		0	0	1	0	0
RFX5	5993	broad.mit.edu	37	1	151315436	151315436	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151315436G>A	uc001exv.1	-	10	1291	c.1077C>T	c.(1075-1077)gcC>gcT	p.A359A	RFX5_uc001exw.1_Silent_p.A359A|RFX5_uc010pcx.1_Silent_p.A319A	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	359						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCACTTTCAGGGCACCTGAAG	0.592000														73			37		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395491	154395491	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:154395491G>A	uc010jih.1	+	0	2232	c.2072G>A	c.(2071-2073)aGa>aAa	p.R691K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	691	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAACTTGAAAGAAACTTCCAG	0.443000														93			45		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808114	48808114	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:48808114C>T	uc002rwp.2	+	1	456	c.342C>T	c.(340-342)ctC>ctT	p.L114L	STON1-GTF2A1L_uc021vhf.1_Silent_p.L114L|STON1-GTF2A1L_uc002rwo.4_Silent_p.L114L|STON1-GTF2A1L_uc010fbm.3_Silent_p.L114L|STON1-GTF2A1L_uc010yol.2_Silent_p.L114L	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	114					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACAGCCCACTCGCAATATCAG	0.473000														68			39		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20990797	20990797	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20990797C>T	uc010vbe.2	-	49	7931	c.7931G>A	c.(7930-7932)cGa>cAa	p.R2644Q	DNAH3_uc010vbd.2_Missense_Mutation_p.R79Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2644	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTTGTGTCTTCGAAGTTTGTT	0.478000														67			32		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53170910	53170910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53170910G>A	uc001sax.3	-	0	220	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	56	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TAGAGGCTGCGACTGCCAAAG	0.667000														112			47		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058160	79058160	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:79058160G>A	uc002bej.4	-	18	4304	c.4093C>T	c.(4093-4095)Cct>Tct	p.P1365S	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1365					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCACCTCAGGGCTGAGGGAC	0.667000														22			15		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124840115	124840115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124840115G>A	uc021rga.1	-	23	3382	c.3265C>T	c.(3265-3267)Cac>Tac	p.H1089Y	NCOR2_uc021rgb.1_Missense_Mutation_p.H1073Y|NCOR2_uc010tbb.2_Missense_Mutation_p.H1082Y|NCOR2_uc010tbc.2_Missense_Mutation_p.H1072Y|NCOR2_uc021rgc.1_Missense_Mutation_p.H1072Y|NCOR2_uc010tba.2_Missense_Mutation_p.H1090Y|NCOR2_uc001ugj.1_Missense_Mutation_p.H1090Y	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1090					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCAGTGGGTGACCTGTGGAG	0.677000														12			10		0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39883959	39883959	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:39883959G>A	uc003axv.4	+	1	846	c.607G>A	c.(607-609)Gag>Aag	p.E203K	MGAT3_uc010gxy.3_Missense_Mutation_p.E203K	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	203					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	p.R202R(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGTGCCCAGGGAGGTGCCGCG	0.677000														18			7		0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073281	134073281	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:134073281C>T	uc003iha.3	+	0	2812	c.1986C>T	c.(1984-1986)gaC>gaT	p.D662D	PCDH10_uc003igz.3_Silent_p.D662D	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	662	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGGTGCGCGACCATGGGCAGC	0.726000														36			6		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94929538	94929538	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94929538G>A	uc001ydf.3	-	4	1361	c.1200C>T	c.(1198-1200)ccC>ccT	p.P400P	SERPINA9_uc001yde.3_Silent_p.P300P|SERPINA9_uc010avc.3_Silent_p.P251P|SERPINA9_uc001ydg.3_Silent_p.P364P	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.	382					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)		TGAAGTAAGAGGGGCCATCCT	0.498000														108			29		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169747	57169747	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57169747G>A	uc001cyk.4	+	6	963	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	298					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						AGAAGTGTGTGAAAAATTTGA	0.383000														179			77		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904769	55904769	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55904769G>A	uc010riz.2	-	0	426	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ACACCAGCAGGAGGCAGAGCC	0.473000														108			25		0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123508947	123508947	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123508947C>T	uc001pza.1	-	4	938	c.531G>A	c.(529-531)atG>atA	p.M177I	SCN3B_uc001pzb.1_Missense_Mutation_p.M177I	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	177					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		AGCAATATATCATCTCGATGA	0.453000														57			15		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42285037	42285037	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42285037G>A	uc021sjp.1	-	12	1368	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L	PLA2G4E_uc010udc.2_5'UTR|PLA2G4E_uc001zov.2_Silent_p.L80L	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	444	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GGAATTTGCGGAGCTGGTCTG	0.582000														45			28		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85935348	85935348	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:85935348G>A	uc003dql.3	+	3	379	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	CADM2_uc003dqj.3_Missense_Mutation_p.E125K|CADM2_uc003dqk.3_Missense_Mutation_p.E134K|CADM2_uc003dqm.2_Missense_Mutation_p.E17K|CADM2_uc021xay.1_Missense_Mutation_p.E17K|CADM2_uc021xaz.1_Missense_Mutation_p.E17K|CADM2_uc021xba.1_Missense_Mutation_p.E17K	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	125	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AGGTGTTCCTGAAAAGCCTCA	0.393000														58			17		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782677	54782677	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54782677G>A	uc002qfb.3	-	5	1211	c.945C>T	c.(943-945)atC>atT	p.I315I	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.I315I|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.I315I|LILRB2_uc010yet.2_Silent_p.I199I|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	315	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTGATCAGGATGTCCAGGG	0.652000														20			22		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120801536	120801536	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:120801536G>A	uc001ldu.3	-	18	3642	c.3496C>T	c.(3496-3498)Cct>Tct	p.P1166S	EIF3A_uc010qsu.2_Missense_Mutation_p.P1132S|EIF3A_uc009xzg.1_Missense_Mutation_p.P205S	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1166	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CAAGGACCAGGTCTTGAGTCA	0.443000														66			21		0	0	1	0	0
SCN2B	6327	broad.mit.edu	37	11	118039326	118039326	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118039326C>T	uc001psf.2	-	1	402	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_004588	NP_004579	O60939	SCN2B_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, beta (SCN2B), mRNA.	71	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		TTGTTGCACTCCTGGTAAGTC	0.597000														150			60		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43552380	43552380	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43552380C>T	uc001zrd.2	-	2	314	c.306G>A	c.(304-306)gtG>gtA	p.V102V	TGM5_uc001zre.2_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	102					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CGCACAAGCTCACCTCTGTGG	0.642000														76			28		0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201840306	201840306	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201840306C>T	uc001gwz.3	+	18	2477	c.2427C>T	c.(2425-2427)ttC>ttT	p.F809F		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	809					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TCATGGTGTTCGCTCATCTGG	0.483000														134			55		0	0	1	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25226182	25226182	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:25226182C>T	uc001ise.1	-	2	299	c.270G>A	c.(268-270)aaG>aaA	p.K90K	PRTFDC1_uc010qdd.1_Silent_p.K90K|PRTFDC1_uc009xkm.1_Non-coding_Transcript	NM_020200	NP_064585	Q9NRG1	PRDC1_HUMAN	Homo sapiens phosphoribosyl transferase domain containing 1 (PRTFDC1), mRNA.	90					GMP salvage|IMP salvage|adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|grooming behavior|hypoxanthine metabolic process|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						GGCTGATGTTCTTAAGGTGTT	0.373000														83			36		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121932424	121932424	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:121932424G>A	uc001uat.3	-	11	1796	c.1692C>T	c.(1690-1692)atC>atT	p.I564I	KDM2B_uc001uar.3_Silent_p.I155I|KDM2B_uc001uas.3_Silent_p.I533I|KDM2B_uc021rfd.1_Silent_p.I533I|KDM2B_uc001uau.3_Silent_p.I447I|KDM2B_uc021rfe.1_Silent_p.I564I|KDM2B_uc001uav.4_Silent_p.I474I	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	564					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGACCCCAGTGATGGCCAGAC	0.587000											OREG0022202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			10		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623260	100623260	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:100623260C>T	uc002taf.3	-	5	926	c.782G>A	c.(781-783)aGg>aAg	p.R261K	AFF3_uc002tag.3_Missense_Mutation_p.R236K|AFF3_uc010fiq.1_Missense_Mutation_p.R236K|AFF3_uc010yvr.1_Missense_Mutation_p.R390K|AFF3_uc002tah.1_Missense_Mutation_p.R261K|AFF3_uc010fir.1_Missense_Mutation_p.R313K	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	236					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GTCCATTGGCCTCACATACGC	0.577000														48			18		0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37488068	37488068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:37488068C>T	uc010efg.3	+	9	1993	c.1475C>T	c.(1474-1476)tCa>tTa	p.S492L	ZNF568_uc010xtn.2_Missense_Mutation_p.S428L|ZNF568_uc010efi.2_Missense_Mutation_p.S296L|ZNF568_uc010efj.2_Missense_Mutation_p.S296L|AX747376_uc021utt.1_5'Flank	NM_001204838	NP_001191767	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 5, mRNA.	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTTGTGCCTCACAGCTGAGT	0.428000														12			3		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56565064	56565064	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56565064G>A	uc002qmj.3	+	12	3189	c.3189G>A	c.(3187-3189)agG>agA	p.R1063R	NLRP5_uc002qmi.3_Silent_p.R1044R	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	1063						mitochondrion|nucleolus	ATP binding	p.R1063R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGATCTCGAGGAGCAGACACC	0.572000														41			13		0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59410955	59410955	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:59410955G>A	uc003xtm.4	-	1	217	c.154C>T	c.(154-156)Cct>Tct	p.P52S		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	52					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AACTCAAGAGGATTGGCACCA	0.418000									Neonatal Giant Cell Hepatitis					148			57		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129237967	129237967	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:129237967C>T	uc003eml.3	+	28	3768	c.3562C>T	c.(3562-3564)Cta>Tta	p.L1188L	IFT122_uc003emm.3_Silent_p.L1137L|IFT122_uc003emn.3_Silent_p.L1078L|IFT122_uc003emo.3_Silent_p.L1027L|IFT122_uc003emp.3_Silent_p.L987L|IFT122_uc010htc.3_Silent_p.L1130L|IFT122_uc011bky.2_Silent_p.L928L|IFT122_uc011bla.2_Silent_p.L911L|IFT122_uc003emr.3_Silent_p.L890L|IFT122_uc010hte.3_Silent_p.L463L|IFT122_uc003ems.3_Silent_p.L519L	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	1137					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						GATTCTGCGGCTAGTGGAGAC	0.582000														135			38		0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43268136	43268136	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43268136G>A	uc002ouo.2	-	1	460	c.362C>T	c.(361-363)aCc>aTc	p.T121I	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.T121I|PSG8_uc010ein.3_Intron|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	121	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GATGTGTAAGGTGTAGGATCC	0.443000														569			144		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73574719	73574719	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73574719C>T	uc001jrx.4	+	67	10130	c.9740C>T	c.(9739-9741)aCt>aTt	p.T3247I	CDH23_uc001jsg.4_Missense_Mutation_p.T1010I|CDH23_uc001jsh.4_Missense_Mutation_p.T975I|CDH23_uc001jsi.4_Missense_Mutation_p.T975I|CDH23_uc001jsj.4_Missense_Mutation_p.T147I|CDH23_uc010qjr.2_Missense_Mutation_p.T112I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	3250					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						CTGATACAGACTGAGCTGGAC	0.652000														25			7		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47401263	47401263	+	Silent	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47401263G>C	uc001cqp.4	-	4	618	c.567C>G	c.(565-567)gtC>gtG	p.V189V	CYP4A11_uc001cqq.2_Silent_p.V189V|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	189					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TCATCAAGGAGACGTGCTGAA	0.567000														67			14		0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20406640	20406640	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:20406640C>T	uc003suu.3	+	2	924	c.219C>T	c.(217-219)ttC>ttT	p.F73F	ITGB8_uc011jyh.2_5'UTR|ITGB8_uc003sut.3_Silent_p.F73F	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	73					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AACAGGATTTCATTTCAGGTG	0.303000														88			39		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6096537	6096537	+	Silent	SNP	C	T	T	rs141850118	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:6096537C>T	uc002wmr.3	-	2	1095	c.306G>A	c.(304-306)ccG>ccA	p.P102P	FERMT1_uc010gbt.3_5'UTR|FERMT1_uc002wms.3_Silent_p.P102P	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	102	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TCTTCAAATTCGGCAGACGAA	0.498000														90			40		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256006	15256006	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15256006C>T	uc001iob.3	-	7	1588	c.1581G>A	c.(1579-1581)gaG>gaA	p.E527E		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	527						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCTGTTCTTTCTCAGGTGATG	0.537000														225			28		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129902393	129902393	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:129902393G>A	uc001lke.3	-	12	7906	c.7711C>T	c.(7711-7713)Cac>Tac	p.H2571Y	MKI67_uc001lkf.3_Missense_Mutation_p.H2211Y|MKI67_uc009yav.1_Missense_Mutation_p.H2146Y|MKI67_uc009yaw.1_Missense_Mutation_p.H1721Y	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2571	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)				TCTTCAGTGTGACCTGGTGCT	0.483000														136			37		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54962074	54962074	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:54962074C>T	uc003dhl.3	-	1	1	c.-133_splice	c.e1-1		CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.							integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TGCTTTTCTTCAATGCAGAAA	0.453000														17			15		0	0	1	0	0
FOLR1	2348	broad.mit.edu	37	11	71907116	71907116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:71907116G>A	uc001orz.2	+	5	945	c.669G>A	c.(667-669)gaG>gaA	p.E223E	FOLR1_uc001osa.2_Silent_p.E223E|FOLR1_uc001osb.2_Silent_p.E223E|FOLR1_uc001osd.2_Silent_p.E223E	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	223					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						ACCCCAATGAGGAGGTGGCGA	0.607000														69			13		0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64514191	64514191	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64514191C>T	uc001oax.4	-	19	3286	c.2469G>A	c.(2467-2469)cgG>cgA	p.R823R	RASGRP2_uc009ypu.3_5'Flank|RASGRP2_uc009ypv.3_5'Flank|RASGRP2_uc009ypw.3_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.4_Silent_p.R735R	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	823					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	p.R823L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CCCAGATCTCCCGGGCATACT	0.617000														63			20		0	0	1	0	0
ACY3	91703	broad.mit.edu	37	11	67410302	67410302	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67410302C>T	uc001omq.3	-	7	1024	c.853G>A	c.(853-855)Gag>Aag	p.E285K		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	Homo sapiens aspartoacylase (aminocyclase) 3 (ACY3), mRNA.	285					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	TAGGCAGCCTCGTTAATGAAC	0.597000														54			36		0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26163834	26163834	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:26163834G>A	uc001uqk.3	+	23	2350	c.2208G>A	c.(2206-2208)ttG>ttA	p.L736L	ATP8A2_uc010tdi.2_Silent_p.L696L|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Silent_p.L246L	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	696					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGGACTCTTTGGATGTAAGTA	0.363000														90			30		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28260212	28260212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:28260212C>T	uc009xky.3	-	7	1065	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	ARMC4_uc010qds.2_Intron|ARMC4_uc010qdt.2_Missense_Mutation_p.E15K|ARMC4_uc001itz.3_Missense_Mutation_p.E323K|ARMC4_uc010qdu.1_Missense_Mutation_p.E15K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	323							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGATCCTTTTCCTTTTGCTGG	0.388000														53			21		0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124421994	124421994	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124421994G>A	uc001ufw.1	-	4	754	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	CCDC92_uc001ufv.1_Missense_Mutation_p.R186C|CCDC92_uc001ufx.1_Missense_Mutation_p.R203C	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	203										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		ATGCGGCGGCGAGGCGTTTCG	0.617000														59			25		0	0	1	0	0
HDHD3	81932	broad.mit.edu	37	9	116136320	116136320	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116136320G>A	uc022bme.1	-	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F	HDHD3_uc004bhi.1_Silent_p.F105F|HDHD3_uc004bhk.3_Silent_p.F105F	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 3 (HDHD3), mRNA.	105							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						AGGGGTGGCTGAAGTCTTTAT	0.607000														115			32		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51092883	51092883	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:51092883G>A	uc003tps.3	-	12	3906	c.3721C>T	c.(3721-3723)Ctc>Ttc	p.L1241F	COBL_uc003tpr.4_Missense_Mutation_p.L1231F|COBL_uc011kcl.2_Missense_Mutation_p.L1184F|COBL_uc003tpp.4_Missense_Mutation_p.L1017F|COBL_uc003tpq.4_Missense_Mutation_p.L1125F|COBL_uc003tpo.4_Missense_Mutation_p.L773F	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	1231	WH2 3.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GTGTTGCTGAGGGTGCCCGTG	0.647000														74			18		0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6458118	6458118	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6458118C>T	uc001qnw.3	-	9	1992	c.1728G>A	c.(1726-1728)aaG>aaA	p.K576K	SCNN1A_uc001qnv.3_Silent_p.K217K|SCNN1A_uc001qnx.3_Silent_p.K517K|SCNN1A_uc010sfb.2_Silent_p.K540K	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	517					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GGACTGACCTCTTGTTGTTGA	0.488000														321			126		0	0	1	0	0
CSAD	51380	broad.mit.edu	37	12	53552405	53552405	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53552405G>A	uc001sby.3	-	15	1498	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	CSAD_uc021qyc.1_Missense_Mutation_p.H225Y|CSAD_uc001sbw.3_Missense_Mutation_p.H311Y|CSAD_uc009zmt.3_Missense_Mutation_p.H240Y|CSAD_uc010snx.2_Missense_Mutation_p.H485Y|CSAD_uc001sbz.3_Missense_Mutation_p.H458Y|CSAD_uc009zmu.3_Missense_Mutation_p.H311Y|CSAD_uc021qyd.1_Intron	NM_001244705	NP_001231634	Q9Y600	CSAD_HUMAN	Homo sapiens cysteine sulfinic acid decarboxylase (CSAD), transcript variant 2, mRNA.	458					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CGGGTCCCGTGGGGCTGGTAG	0.612000														28			9		0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2464818	2464818	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:2464818G>A	uc002wge.1	-	5	1277	c.789C>T	c.(787-789)ctC>ctT	p.L263L	ZNF343_uc010gao.1_Silent_p.L263L|ZNF343_uc002wgd.1_Silent_p.L173L	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TCTTCCCTAAGAGGGTCCTCG	0.433000														99			18		0	0	1	0	0
TMEM27	57393	broad.mit.edu	37	X	15657812	15657812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:15657812G>A	uc004cxc.2	-	4	641	c.385C>T	c.(385-387)Cct>Tct	p.P129S		NM_020665	NP_065716	Q9HBJ8	TMM27_HUMAN	Homo sapiens transmembrane protein 27 (TMEM27), mRNA.	129					proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					AGTGTGGAAGGGATTTTTAAA	0.348000														52			58		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179449278	179449278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179449278C>T	uc021vsy.1	-	259	57521	c.57296G>A	c.(57295-57297)cGa>cAa	p.R19099Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R12794Q|TTN_uc021vta.1_Missense_Mutation_p.R12727Q|TTN_uc021vtb.1_Missense_Mutation_p.R12602Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20026	Fibronectin type-III 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R12794P(1)|p.R19099P(1)|p.R19097P(1)|p.R12602P(1)|p.R12727P(1)		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)			TTTGGTGACTCGTGCATTCTT	0.398000														48			27		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43433789	43433789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43433789C>T	uc002ovl.4	-	3	613	c.511G>A	c.(511-513)Gag>Aag	p.E171K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.E50K	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	172	Ig-like C2-type 1.				female pregnancy	extracellular region							Prostate(69;0.00682)				TCTGGAGTCTCAGGATCACAG	0.527000														295			119		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712534	121712534	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121712534G>A	uc003ees.3	-	6	1265	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	ILDR1_uc003eeq.3_Silent_p.L322L|ILDR1_uc003eer.3_Silent_p.L310L|ILDR1_uc010hrg.3_Silent_p.L265L	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	354						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GAATTGGGGTGAGCCACTGCT	0.602000														35			15		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54959101	54959101	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:54959101G>A	uc003dhl.3	-	1	283	c.149C>T	c.(148-150)cCt>cTt	p.P50L	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	50	LRRNT.					integral to membrane		p.P49S(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TCGAGTCTGAGGAGGTAAATG	0.473000														37			6		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113196700	113196700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113196700C>T	uc010mtz.3	-	29	5312	c.4975G>A	c.(4975-4977)Gat>Aat	p.D1659N		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1659	Sushi 5.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAGCCTGGATCACAGAACAGA	0.502000														22			8		0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	426755	426755	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:426755G>A	uc002cgu.4	-	4	822	c.693C>T	c.(691-693)tcC>tcT	p.S231S	TMEM8A_uc002cgv.4_Silent_p.S38S	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	Homo sapiens transmembrane protein 8A (TMEM8A), mRNA.	231					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GGCTCCCATTGGACACGCAGT	0.667000														27			4		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101348054	101348054	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:101348054C>T	uc010txj.1	-	0	3131	c.3072G>A	c.(3070-3072)agG>agA	p.R1024R	MIR433_uc021scd.1_5'Flank|MIR127_uc001yig.3_5'Flank|MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	1024										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCGATGGATCCCTGGGGAATC	0.577000														11			3		0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	127998957	127998957	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:127998957C>T	uc004bpn.3	-	7	2140	c.1879G>A	c.(1879-1881)Gtt>Att	p.V627I		NM_005347	NP_005338	P11021	GRP78_HUMAN	Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	627					ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	ATTGGTTGAACAATTTCTTCC	0.423000										Prostate(1;0.17)				85			24		0	0	1	0	0
FEZ2	9637	broad.mit.edu	37	2	36782889	36782889	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:36782889G>A	uc002rpg.2	-	7	1110	c.1063C>T	c.(1063-1065)Ctt>Ttt	p.L355F	FEZ2_uc002rpf.2_Missense_Mutation_p.L157F|FEZ2_uc002rph.2_Missense_Mutation_p.L328F|FEZ2_uc002rpj.2_Silent_p.F302F	NM_001042548	NP_001036013	Q9UHY8	FEZ2_HUMAN	Homo sapiens fasciculation and elongation protein zeta 2 (zygin II) (FEZ2), transcript variant 2, mRNA.	328					axon guidance|signal transduction		protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				ATGGCACGAAGAACTGCAAAA	0.333000														32			11		0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36653169	36653169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:36653169G>A	uc003ape.3	+	3	407	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	APOL1_uc011amn.1_5'UTR|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Intron|APOL1_uc003apf.3_Missense_Mutation_p.E29K|APOL1_uc011amp.2_Missense_Mutation_p.E29K|APOL1_uc011amq.2_Intron|APOL1_uc010gwx.3_5'UTR	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	29					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						GAGGGCAGAGGAAGCTGGAGC	0.502000														37			12		0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183586769	183586769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:183586769C>T	uc002uow.1	+	4	800	c.385C>T	c.(385-387)Cct>Tct	p.P129S	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.P129S|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	129					ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGATGATGATCCTGAAATCAT	0.259000														98			43		0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3782725	3782725	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:3782725C>T	uc010sen.1	-	6	1130	c.558G>A	c.(556-558)ctG>ctA	p.L186L	EFCAB4B_uc001qmj.2_Silent_p.L186L|EFCAB4B_uc001qmi.1_Non-coding_Transcript	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	186					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CCTCCTTCTTCAGCTGCAACC	0.493000														69			33		0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23328614	23328614	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:23328614C>T	uc002nrb.1	+	3		c.967C>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						AAAAACCCTACCAATGTGAGA	0.333000														18			3		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47043884	47043884	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:47043884C>T	uc003cqp.3	+	31	5354	c.5175C>T	c.(5173-5175)ttC>ttT	p.F1725F	NBEAL2_uc010hjm.2_Silent_p.F1102F|NBEAL2_uc010hjn.2_Silent_p.F121F	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1725							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGTCCCAGTTCGAAATGGACA	0.582000														60			23		0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156128250	156128250	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156128250C>T	uc001fnl.3	+	4	614	c.435C>T	c.(433-435)ttC>ttT	p.F145F	SEMA4A_uc009wrq.3_Silent_p.F145F|SEMA4A_uc001fnm.3_Silent_p.F145F|SEMA4A_uc001fnn.3_Intron|SEMA4A_uc001fno.3_Silent_p.F145F	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	145	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GCGGCACCTTCGCCTTCAGCC	0.522000														167			56		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926778	130926778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:130926778C>T	uc001uil.2	-	7	1284	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	RIMBP2_uc001uim.3_Silent_p.K264K	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	356	Fibronectin type-III 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCATGTTGAGCTTCTCGATGA	0.612000														63			26		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046395	69046395	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:69046395G>T	uc010fdg.3	+	8	1563	c.1144G>T	c.(1144-1146)Ggc>Tgc	p.G382C	ARHGAP25_uc010yql.2_Missense_Mutation_p.G342C|ARHGAP25_uc002sev.3_Missense_Mutation_p.G375C|ARHGAP25_uc002sew.3_Missense_Mutation_p.G374C|ARHGAP25_uc002sex.3_Missense_Mutation_p.G375C	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	381					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AAGCTCTGTAGGCTGGGATGC	0.522000														120			28		8.16721e-17	8.20829e-17	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140307828	140307828	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140307828G>A	uc003lih.2	+	0	1527	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.E451K	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	475	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)			ACCCCAGCAGGAACTTTTCGT	0.527000														95			53		0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52264053	52264053	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:52264053G>A	uc001ctc.4	-	23	2998	c.2676C>T	c.(2674-2676)gcC>gcT	p.A892A	NRD1_uc009vzb.3_Silent_p.A587A|NRD1_uc001cte.3_Silent_p.A760A|NRD1_uc001ctd.4_Silent_p.A824A|NRD1_uc001ctf.2_Silent_p.A824A|NRD1_uc010ong.1_Non-coding_Transcript	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	823					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TAGACCAACGGGCATATTCCA	0.403000														65			28		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5486048	5486048	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:5486048C>T	uc002gci.3	-	1	945	c.390G>A	c.(388-390)caG>caA	p.Q130Q	NLRP1_uc002gcg.1_Silent_p.Q130Q|NLRP1_uc002gch.4_Silent_p.Q130Q|NLRP1_uc002gck.3_Silent_p.Q130Q|NLRP1_uc002gcj.3_Silent_p.Q130Q|NLRP1_uc002gcl.3_Silent_p.Q130Q|NLRP1_uc010clh.3_Silent_p.Q130Q	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	130					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCTCTGAGCCCTGGGTGCACC	0.632000														10			12		0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56127844	56127844	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56127844G>A	uc010rjh.2	+	0	154	c.122G>A	c.(121-123)gGg>gAg	p.G41E		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ACCATGGCAGGGAACCTGGGC	0.493000														122			48		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113295194	113295194	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113295194G>A	uc001pnz.3	-	0	501	c.180C>T	c.(178-180)tcC>tcT	p.S60S	DRD2_uc010rwv.2_Silent_p.S60S|DRD2_uc001poa.4_Silent_p.S60S|DRD2_uc001pob.4_Silent_p.S60S|DRD2_uc009yyr.1_Silent_p.S60S	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	60					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.S60S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CCTTCTCGCGGGACACAGCCA	0.612000														56			22		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30704350	30704350	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:30704350C>T	uc003xil.3	-	0	2184	c.2184G>A	c.(2182-2184)ggG>ggA	p.G728G		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	728								p.N727Y(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTTCCATCTCCCCGTTATCAA	0.388000														129			16		0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58006880	58006880	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:58006880C>T	uc001spb.3	+	1	725	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	ARHGEF25_uc009zpy.3_Missense_Mutation_p.L128F|ARHGEF25_uc001soz.1_Intron|ARHGEF25_uc001spa.3_5'UTR|BC073932_uc001spc.3_Non-coding_Transcript	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 25 (ARHGEF25), transcript variant 1, mRNA.	89					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CAAACATTGTCTCAGTGTGGA	0.592000														33			4		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713515	70713515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70713515G>A	uc010ttg.2	-	0	1004	c.353C>T	c.(352-354)tCc>tTc	p.S118F						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		TTGTAGCTGGGAACGACTGAT	0.373000														89			42		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50467665	50467665	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:50467665G>A	uc003tow.4	+	7	1055	c.900G>A	c.(898-900)gaG>gaA	p.E300E	IKZF1_uc022acq.1_Silent_p.E157E|IKZF1_uc003tpa.4_Silent_p.E65E|IKZF1_uc022acr.1_Silent_p.E75E|IKZF1_uc022acs.1_Silent_p.E30E|IKZF1_uc022act.1_Silent_p.E203E|IKZF1_uc022acu.1_Silent_p.E213E|IKZF1_uc003tox.4_Silent_p.E258E|IKZF1_uc022acv.1_Silent_p.E161E|IKZF1_uc022acw.1_Silent_p.E171E|IKZF1_uc022acx.1_Silent_p.E213E|IKZF1_uc022acy.1_Silent_p.E107E|IKZF1_uc022acz.1_Silent_p.E117E|IKZF1_uc011kck.2_Silent_p.E213E|IKZF1_uc003toy.4_Silent_p.E258E|IKZF1_uc003toz.4_Silent_p.E270E|IKZF1_uc010kyx.3_Silent_p.E40E	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	300					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCAGCTACGAGAAGGAGAACG	0.637000			"""D,T"""	BCL6	"""ALL, DLBCL"""									27			10		0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230928654	230928655	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:230928654_230928655GG>AA	uc001htz.1	+	16	1963_1964	c.1850_1851GG>AA	c.(1849-1851)cgg>cAA	p.R617Q	CAPN9_uc009xfg.1_Missense_Mutation_p.R554Q|CAPN9_uc001hua.1_Missense_Mutation_p.R591Q	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	617	Domain IV.|EF-hand 3.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TATGAACTACGGACTGCACTGA	0.530000														119			65		0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375235	8375235	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8375235G>A	uc001qui.2	-	6	1137	c.578C>T	c.(577-579)tCc>tTc	p.S193F	FAM90A1_uc001quh.2_Missense_Mutation_p.S193F	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	193							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		ACTTGAGGAGGAGCTCAGACT	0.597000														90			23		0	0	1	0	0
MBTPS2	51360	broad.mit.edu	37	X	21863445	21863445	+	Silent	SNP	C	T	T	rs3834687		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:21863445C>T	uc004dae.3	+	2	578	c.381C>T	c.(379-381)tcC>tcT	p.S127S	MBTPS2_uc004dab.2_Silent_p.S127S	NM_015884	NP_056968	O43462	MBTP2_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 2 (MBTPS2), mRNA.	127	Poly-Ser.				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						cttcctcttcctcttcttcat	0.418000														16			26		0	0	1	0	0
LOC729862	729862	broad.mit.edu	37	5	28927113	28927113	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:28927113C>T	uc003jgz.1	+	0		c.137C>T								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		AAGGGAGGCTCCAAGACCTCA	0.502000														36			10		0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24865551	24865551	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:24865551C>T	uc003neo.1	-	6	718	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	FAM65B_uc011djs.1_Missense_Mutation_p.R210Q|FAM65B_uc011dju.2_Missense_Mutation_p.R215Q|FAM65B_uc003nep.3_Missense_Mutation_p.R181Q|FAM65B_uc011djt.2_Missense_Mutation_p.R181Q	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA.	181					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CTTGAAGCTCCGATTGATCTC	0.522000														59			28		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10293918	10293918	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10293918C>T	uc002gmm.2	-	39	5762	c.5667G>A	c.(5665-5667)gaG>gaA	p.E1889E	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1889					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGGATTGTTCCTCCTAAGAAT	0.428000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					53			38		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61555329	61555329	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61555329C>T	uc002jau.2	+	1	321	c.287C>T	c.(286-288)gCc>gTc	p.A96V	ACE_uc010wph.2_Missense_Mutation_p.A96V|ACE_uc010wpi.2_Missense_Mutation_p.A96V|ACE_uc010ddu.2_5'UTR	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	96	Peptidase M2 1.				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)	TTTGCGGAGGCCTGGGGCCAG	0.622000														18			11		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100831085	100831085	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:100831085G>A	uc003yiv.3	+	46	8776	c.8665G>A	c.(8665-8667)Gac>Aac	p.D2889N	VPS13B_uc003yiw.3_Missense_Mutation_p.D2864N	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2889					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)			CATAGAACCTGACCTTGTACA	0.378000														72			23		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117352753	117352753	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:117352753G>A	uc001prh.1	-	11	2666	c.2664C>T	c.(2662-2664)gtC>gtT	p.V888V		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	828	Fibronectin type-III 1.				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)		CAGGGTCGATGACTGTGTCCC	0.627000														63			24		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2297770	2297770	+	Silent	SNP	C	T	T	rs139192773		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:2297770C>T	uc002wfx.4	+	5	823	c.726C>T	c.(724-726)acC>acT	p.T242T		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	242					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCACTTACACCGGTGGCCGGG	0.537000														112			35		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95719456	95719456	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95719456C>T	uc009xuj.2	-	0	2217	c.1698G>A	c.(1696-1698)aaG>aaA	p.K566K						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		TGATCTTGCCCTTGGGTTGGA	0.532000														26			14		0	0	1	0	0
TPTE2P3	220115	broad.mit.edu	37	13	53096829	53096829	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:53096829C>T	uc001vgw.3	+	10		c.1206C>T								Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3 (TPTE2P3), non-coding RNA.																		ACCTAATTTTCACTGATAGCA	0.313000														28			14		0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27457323	27457323	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:27457323C>T	uc003xfy.2	-	6	1318	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N	CLU_uc003xfw.2_Missense_Mutation_p.D380N|CLU_uc003xfx.2_Missense_Mutation_p.D380N|CLU_uc003xfz.2_Missense_Mutation_p.D380N	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	380					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TAGTACTGGTCTTCGCCTTGC	0.602000														19			3		0	0	1	0	0
POU3F4	5456	broad.mit.edu	37	X	82763827	82763827	+	Silent	SNP	G	T	T	rs56143048		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:82763827G>T	uc004eeg.2	+	0	559	c.495G>T	c.(493-495)gtG>gtT	p.V165V		NM_000307	NP_000298	P49335	PO3F4_HUMAN	Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA.	165					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	p.P164L(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TGCACCCGGTGCTCCGAGAGC	0.647000														4			6		0.00116845	0.00116956	1	1	0
TMCC3	57458	broad.mit.edu	37	12	94965318	94965318	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:94965318G>A	uc001tdj.2	-	3	1445	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	TMCC3_uc001tdi.2_Missense_Mutation_p.R412C	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	443						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ATGTGGCAGCGACTCTTCATC	0.478000														91			53		0	0	1	0	0
TUBA4B	80086	broad.mit.edu	37	2	220136346	220136346	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220136346G>A	uc002vkv.1	+	3	816	c.651G>A	c.(649-651)caG>caA	p.Q217Q	TUBA4B_uc002vku.3_Non-coding_Transcript					Homo sapiens tubulin, alpha 4b (pseudogene) (TUBA4B), non-coding RNA.																		CATCTCTGCAGAAAAGGTATA	0.557000														83			15		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21016731	21016731	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:21016731G>A	uc001bdr.4	-	6	1449	c.1331C>T	c.(1330-1332)tCa>tTa	p.S444L	KIF17_uc009vpx.3_5'UTR|KIF17_uc001bds.4_Missense_Mutation_p.S444L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	444					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GACGTCATATGAGTTGCGCAT	0.627000														56			22		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10369690	10369690	+	Missense_Mutation	SNP	G	A	A	rs112133139		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10369690G>A	uc002gmn.3	-	3	359	c.248C>T	c.(247-249)cCc>cTc	p.P83L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	83	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.P83L(2)|p.P82S(1)		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						GTCATATTTGGGAGGGTTCAT	0.438000														81			56		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420887	55420887	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55420887C>T	uc001sgp.4	+	1	1042	c.664C>T	c.(664-666)Ctt>Ttt	p.L222F	NEUROD4_uc021qyr.1_Missense_Mutation_p.L222F	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	222					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AACACATCTCCTTCATCTCAA	0.498000														70			26		0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43197462	43197462	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:43197462G>A	uc003xpz.1	+	10	1394	c.1351G>A	c.(1351-1353)Gat>Aat	p.D451N	POTEA_uc003xqa.1_Missense_Mutation_p.D405N	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	451								p.M450I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACTCAAAATGGATTTTAACGG	0.373000														99			38		0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53185105	53185105	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53185105C>T	uc001say.3	-	6	1486	c.1420G>A	c.(1420-1422)Gcg>Acg	p.A474T		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	474	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCATCCTTCGCCTGCTGTAGA	0.612000														80			42		0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17230663	17230663	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:17230663G>A	uc003wxm.3	-	1	350	c.111C>T	c.(109-111)ttC>ttT	p.F37F		NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	37							protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		AATTTTCCACGAATATGACAT	0.403000														37			8		0	0	1	0	0
NT5M	56953	broad.mit.edu	37	17	17250254	17250254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:17250254C>T	uc002grf.3	+	4	865	c.680C>T	c.(679-681)cCc>cTc	p.P227L	NT5M_uc002grg.3_Missense_Mutation_p.P233L	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	Homo sapiens 5',3'-nucleotidase, mitochondrial (NT5M), nuclear gene encoding mitochondrial protein, mRNA.	227					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						AGCAAGCGGCCCTGCTGAGCT	0.682000														32			15		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502084	90502084	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90502084C>T	uc004app.4	+	3	2717	c.2682C>T	c.(2680-2682)ttC>ttT	p.F894F	FAM75E1_uc004apo.1_Silent_p.F706F	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	894						integral to membrane											TTCCCATTTTCCTGGGAAAAC	0.597000														33			6		0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126531810	126531810	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:126531810G>A	uc011lzm.1	-	1	283	c.69C>T	c.(67-69)ttC>ttT	p.F23F	DENND1A_uc004bny.1_5'UTR|DENND1A_uc004bnz.1_Silent_p.F55F|DENND1A_uc004boa.1_Silent_p.F55F|DENND1A_uc004bob.1_Silent_p.F25F|DENND1A_uc004boc.3_Intron	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	55						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CATAGAAGGGGAAACAAAACT	0.338000														90			35		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561352	9561352	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9561352C>T	uc002wnl.2	-	4	975	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	PAK7_uc002wnk.2_Missense_Mutation_p.E144K|PAK7_uc002wnj.2_Missense_Mutation_p.E144K|PAK7_uc010gby.1_Missense_Mutation_p.E144K	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	144	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.E144K(2)|p.T143T(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGTACTTTTCGGTCGTGTAG	0.512000														190			41		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58209029	58209029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:58209029G>A	uc001vhq.1	+	0	3241	c.2349G>A	c.(2347-2349)atG>atA	p.M783I	PCDH17_uc010aec.1_Missense_Mutation_p.M783I	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	783					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGAACGTCATGAACGTGGTGA	0.587000														32			5		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117710337	117710337	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117710337C>T	uc001twn.2	-	9	2403	c.1692G>A	c.(1690-1692)ctG>ctA	p.L564L	NOS1_uc021ren.1_Silent_p.L228L|NOS1_uc021reo.1_Silent_p.L228L|NOS1_uc001twm.2_Silent_p.L564L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	564					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CGTACCACTTCAGCCCCAGGT	0.607000														64			15		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39452309	39452309	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:39452309C>T	uc001uwv.3	+	21	9019	c.8710C>T	c.(8710-8712)Cag>Tag	p.Q2904*		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2904					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGATCCTGTCCAGAATCTGGG	0.398000														135			36		0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614630	247614630	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247614630G>A	uc010pyx.2	-	0	655	c.655C>T	c.(655-657)Ctt>Ttt	p.L219F		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TAGGAGAGAAGGATGAGAGCC	0.582000														64			11		0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29856066	29856066	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:29856066C>T	uc002dui.3	+	10	2039	c.1887C>T	c.(1885-1887)ccC>ccT	p.P629P	BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Silent_p.P629P|MVP_uc010vea.2_Silent_p.P223P	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	629					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CTGTCTTCCCCCAAAACGGGC	0.657000														145			13		0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67205501	67205501	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:67205501C>T	uc001vik.3	-	3	3873	c.3181G>A	c.(3181-3183)Gaa>Aaa	p.E1061K	PCDH9_uc010aei.3_Non-coding_Transcript|PCDH9_uc001vil.3_Missense_Mutation_p.E1027K|PCDH9_uc010thl.2_Intron|U7_uc021rkh.1_5'Flank	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	1061					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTGCAGCTTTCCTGGGAGCCA	0.517000														40			27		0	0	1	0	0
GJA3	2700	broad.mit.edu	37	13	20717051	20717051	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:20717051G>A	uc001umx.1	-	1	549	c.377C>T	c.(376-378)cCg>cTg	p.P126L	GJA3_uc021rgz.1_Missense_Mutation_p.P126L	NM_021954	NP_068773	Q9Y6H8	CXA3_HUMAN	Homo sapiens gap junction protein, alpha 3, 46kDa (GJA3), mRNA.	126					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		ATTGTCCTGCGGTGGCTCCTT	0.632000														8			3		0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15113846	15113846	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15113846G>A	uc001int.2	+	7	1038	c.784G>A	c.(784-786)Gga>Aga	p.G262R	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.G209R	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	209					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						ATGTTTTGTTGGATCTGAAGA	0.323000														98			42		0	0	1	0	0
CDKN2AIP	55602	broad.mit.edu	37	4	184366211	184366211	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:184366211C>T	uc003ivp.1	+	0	423	c.261C>T	c.(259-261)ttC>ttT	p.F87F	CDKN2AIP_uc003ivq.1_5'UTR	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	Homo sapiens CDKN2A interacting protein (CDKN2AIP), mRNA.	87					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		ACCACGTCTTCCTCGGGTGCC	0.687000														77			30		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27343200	27343200	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:27343200G>A	uc003cdt.2	-	13	1429	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F		NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	385							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTTGAAGTGAGAAAGTATTTT	0.353000														11			3		0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1743171	1743171	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:1743171G>A	uc004cqd.3	+	3	470	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	ASMT_uc010ncy.3_Missense_Mutation_p.R85Q|ASMT_uc004cqe.3_Missense_Mutation_p.R85Q	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	85					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCTTTCTATCGAAACACAGAG	0.547000														194			76		0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105459626	105459626	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:105459626C>T	uc003yly.4	-	2	658	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	177					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)			GAGAAGGCTTCGTACAGCTCC	0.428000														65			16		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155450803	155450803	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:155450803C>T	uc003qqb.3	+	5	1719	c.446C>T	c.(445-447)tCc>tTc	p.S149F	TIAM2_uc003qqe.3_Missense_Mutation_p.S149F	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	149					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCATTGCCTCCACCCCACCG	0.572000														25			15		0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12192799	12192799	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:12192799G>A	uc003bwm.3	+	7	899	c.735G>A	c.(733-735)caG>caA	p.Q245Q	SYN2_uc003bwl.1_Silent_p.Q245Q|SYN2_uc003bwn.3_5'UTR	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	249					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TCATTGAACAGACATACTACC	0.438000														29			7		0	0	1	0	0
ELOVL2	54898	broad.mit.edu	37	6	10995328	10995328	+	Silent	SNP	C	T	T	rs141887901		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:10995328C>T	uc003mzp.4	-	4	578	c.417G>A	c.(415-417)acG>acA	p.T139T		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA.	139					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TAATCTGACTCGTTTTTTTCC	0.358000														110			49		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477426	110477426	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110477426C>T	uc003yne.3	+	48	8469	c.8365C>T	c.(8365-8367)Cgc>Tgc	p.R2789C		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2789					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			GGCTGGCTTTCGCTGGGAACA	0.393000										HNSCC(38;0.096)				49			27		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33540299	33540299	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:33540299G>A	uc021vft.1	+	23	3716	c.3693G>A	c.(3691-3693)caG>caA	p.Q1231Q	LTBP1_uc002rou.3_Silent_p.Q905Q|LTBP1_uc002rov.3_Silent_p.Q852Q|LTBP1_uc010ymz.2_Silent_p.Q905Q|LTBP1_uc010yna.2_Silent_p.Q852Q|LTBP1_uc010ynb.2_Silent_p.Q171Q	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1231	EGF-like 12; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCTGCCAGCAGGGTTTCTCAA	0.428000														62			43		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49166321	49166321	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49166321G>A	uc001rsh.4	-	15	3287	c.2627C>T	c.(2626-2628)tCt>tTt	p.S876F	ADCY6_uc001rsi.4_Missense_Mutation_p.S823F|ADCY6_uc001rsj.4_Missense_Mutation_p.S876F|ADCY6_uc010slw.1_Missense_Mutation_p.S107F|MIR4701_uc021qxl.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	876					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CTCATTGGAAGAAGCCCTGGT	0.512000														42			8		0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30674574	30674574	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30674574G>A	uc002wxh.3	+	8	1216	c.979G>A	c.(979-981)Gag>Aag	p.E327K	HCK_uc010gdy.3_Missense_Mutation_p.E307K|HCK_uc021wbv.1_Missense_Mutation_p.E306K|HCK_uc002wxi.3_Missense_Mutation_p.E305K	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	327	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGTCACCAAGGAGCCCATCTA	0.592000														54			20		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333557	70333557	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70333557C>T	uc001oqc.3	-	20	2755	c.2643G>A	c.(2641-2643)gaG>gaA	p.E881E	SHANK2_uc010rqn.2_Silent_p.E357E|SHANK2_uc001opz.3_Silent_p.E352E|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	568					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACATCCCCTTCTCCCTCATCA	0.577000														39			21		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155287561	155287561	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155287561C>T	uc003inw.2	-	4	495	c.495G>A	c.(493-495)gtG>gtA	p.V165V	DCHS2_uc003inx.2_Silent_p.V759V	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	165	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCTCCAGGTCCACACGAACAA	0.468000														17			10		0	0	1	0	0
RGS14	10636	broad.mit.edu	37	5	176798994	176798994	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176798994C>T	uc003mgh.3	+	14	1804	c.1622C>T	c.(1621-1623)tCc>tTc	p.S541F	RGS14_uc003mgf.3_Missense_Mutation_p.S540F|RGS14_uc003mgi.3_Missense_Mutation_p.S311F	NM_006480	NP_006471	O43566	RGS14_HUMAN	Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.	540					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	PML body|cell junction|centrosome|dendritic spine|microtubule|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCCCAGCTCCGAGGAGACC	0.632000														344			35		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149460492	149460492	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149460492C>T	uc003lrl.3	-	1	340	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	CSF1R_uc011dcd.2_5'UTR|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.E49K|CSF1R_uc011dce.1_Missense_Mutation_p.E49K|CSF1R_uc011dcf.2_Missense_Mutation_p.E49K	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	49	Ig-like C2-type 1.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCATCCCATTCCACGCTGCCA	0.587000														24			13		0	0	1	0	0
PARK7	11315	broad.mit.edu	37	1	8025434	8025434	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:8025434C>T	uc001aou.4	+	2	246	c.141C>T	c.(139-141)agC>agT	p.S47S	PARK7_uc001aox.4_Silent_p.S47S|PARK7_uc001aov.4_Silent_p.S47S	NM_001123377	NP_009193	Q99497	PARK7_HUMAN	Homo sapiens parkinson protein 7 (PARK7), transcript variant 2, mRNA.	47					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		TACAGTGTAGCCGTGATGTGG	0.403000														55			29		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21328398	21328398	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:21328398C>T	uc002ztj.2	+	4	620	c.402C>T	c.(400-402)tgC>tgT	p.C134C	LZTR1_uc002ztk.2_Silent_p.C134C|LZTR1_uc002ztl.2_Silent_p.C140C|LZTR1_uc011ahx.1_Silent_p.C122C	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGGCGCCTGCTTCAACATCA	0.662000														21			10		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101018320	101018320	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:101018320T>A	uc003yjb.1	-	15	2574	c.2379A>T	c.(2377-2379)gaA>gaT	p.E793D	RGS22_uc003yja.1_Missense_Mutation_p.E612D|RGS22_uc003yjc.1_Missense_Mutation_p.E781D|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.E182D	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	793					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACTGTCGAGTTTCTTCCACCA	0.373000														47			18		0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65517349	65517349	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:65517349C>T	uc003xvj.2	-	4	1327	c.1123G>A	c.(1123-1125)Gat>Aat	p.D375N		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	375					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGAGTCAAATCCTCCTCAACA	0.428000														51			18		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90459638	90459638	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:90459638G>A	uc003kju.3	+	89	18938	c.18842G>A	c.(18841-18843)gGc>gAc	p.G6281D	GPR98_uc003kjt.3_Missense_Mutation_p.G3987D|GPR98_uc003kjw.3_Missense_Mutation_p.G1942D|GPR98_uc003kjx.3_Missense_Mutation_p.G309D	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	6281					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTGGTCAAGGCAGCCAGGAG	0.488000														12			4		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137657	63137657	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63137657C>T	uc001nww.3	+	0	397	c.129C>T	c.(127-129)ttC>ttT	p.F43F	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.	43					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TCACTGCATTCATACCTGGCC	0.483000														175			80		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14766126	14766127	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:14766126_14766127CC>TT	uc001rcd.3	-	26	3283_3284	c.3146_3147GG>AA	c.(3145-3147)cgg>cAA	p.R1049Q		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	1049					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	p.R1049L(2)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGCTGGCTACCCGTCTGGGTTT	0.431000														250			68		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121498412	121498412	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121498412C>T	uc001pxx.3	+	46	6642	c.6513C>T	c.(6511-6513)gcC>gcT	p.A2171A	SORL1_uc010rzp.1_Silent_p.A1017A|SORL1_uc010rzq.1_Silent_p.A786A	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2171					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCTTCACCGCCTTCGCCAACA	0.607000														37			14		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207870911	207870911	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207870911C>T	uc001hga.4	+	5	1047	c.926C>T	c.(925-927)tCa>tTa	p.S309L	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	309	Sushi 5.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GACAACTTTTCACCCGGGCAG	0.547000														200			69		0	0	1	0	0
RBFOX2	23543	broad.mit.edu	37	22	36142017	36142017	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:36142017G>A	uc003aon.4	-	12	1376	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	RBFOX2_uc003aom.4_Missense_Mutation_p.P329S|RBFOX2_uc003aol.4_Missense_Mutation_p.P347S|RBFOX2_uc003aoj.4_Missense_Mutation_p.P351S|RBFOX2_uc003aok.4_Silent_p.T334T|RBFOX2_uc003aoh.4_Silent_p.T337T|RBFOX2_uc010gwu.3_Silent_p.T337T|RBFOX2_uc003aoo.4_Missense_Mutation_p.P421S|RBFOX2_uc021wok.1_Non-coding_Transcript	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 2 (RBFOX2), transcript variant 5, mRNA.	361					RNA splicing|estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation	cytoplasm|nucleus	RNA binding|nucleotide binding|transcription corepressor activity|transcription factor binding			endometrium(4)|large_intestine(7)|lung(7)	18						GCATGGTAGGGGTCGGCTGTG	0.403000														376			122		0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111304210	111304210	+	Silent	SNP	G	A	A	rs139540088	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:111304210G>A	uc003dxw.3	+	5	1010	c.840G>A	c.(838-840)acG>acA	p.T280T	CD96_uc003dxv.3_Silent_p.T264T|CD96_uc003dxx.3_Silent_p.T264T|CD96_uc010hpy.1_Silent_p.T264T	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	280	Ig-like C2-type.		T -> M (in CLSYN).		cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ATAACTCCACGGATGTCTTGG	0.408000									Opitz Trigonocephaly syndrome					49			20		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50111267	50111267	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:50111267C>T	uc003jon.4	+	16	1758	c.1576_splice	c.e16-1	p.P526_splice	PARP8_uc011cpz.2_Splice_Site_p.P418_splice|PARP8_uc003joo.3_Splice_Site_p.P526_splice|PARP8_uc003jop.3_Splice_Site_p.P526_splice	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	526						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CTTTTGTAGCCTACCGTATGT	0.358000														59			14		0	0	1	0	0
P2RX5	5026	broad.mit.edu	37	17	3594945	3594945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3594945G>A	uc002fwi.3	-	1	680	c.281C>T	c.(280-282)cCa>cTa	p.P94L	P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Missense_Mutation_p.P58L|P2RX5_uc002fwk.3_Missense_Mutation_p.P94L|P2RX5_uc002fwj.3_Missense_Mutation_p.P94L|P2RX5_uc002fwl.3_Missense_Mutation_p.P94L|P2RX5_uc002fwm.2_Missense_Mutation_p.P94L	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.	94					nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GACCTGGGCTGGAATGACGTA	0.617000														37			22		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87235216	87235216	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:87235216C>T	uc003ydq.1	-	1	900	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	SLC7A13_uc003ydr.1_Missense_Mutation_p.E259K	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	268						integral to membrane	amino acid transmembrane transporter activity	p.E268K(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GAGAGAATTTCCCTGGGTGTC	0.383000														102			35		0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50574376	50574376	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50574376G>A	uc010qgq.2	-	5	592	c.592C>T	c.(592-594)Ctt>Ttt	p.L198F	DRGX_uc021pqd.1_Missense_Mutation_p.L193F	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	198					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						TAGGTGGGAAGGAAGGAGAGT	0.602000														72			28		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1513989	1513989	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:1513989G>A	uc003skn.2	-	40	5745	c.5644C>T	c.(5644-5646)Ccc>Tcc	p.P1882S		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1882					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)		GCGATCATGGGCAGGTGCCTG	0.726000														28			6		0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768083	121768083	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:121768083C>T	uc003pyr.3	+	1	340	c.90C>T	c.(88-90)ttC>ttT	p.F30F	GJA1_uc011ebo.1_Intron|GJA1_uc011ebp.1_5'UTR|GJA1_uc021zel.1_Silent_p.F30F	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	30					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CAGTACTTTTCATTTTCCGAA	0.532000														61			32		0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54823363	54823363	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54823363C>T	uc002qfe.3	-	3	300	c.180G>A	c.(178-180)ggG>ggA	p.G60G	LILRA5_uc002qff.3_Silent_p.G48G|LILRA5_uc010yev.2_Silent_p.G60G|LILRA5_uc010yew.2_Silent_p.G48G|LILRA5_uc002qfg.1_Silent_p.G60G|LILRA5_uc002qfh.1_Silent_p.G48G	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	60	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACAGAGTTCCCCCGGCTGA	0.612000														88			35		0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46318801	46318801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:46318801G>A	uc010haa.2	-	3	1124	c.997C>T	c.(997-999)Cac>Tac	p.H333Y	WNT7B_uc003bgo.2_Missense_Mutation_p.H329Y	NM_058238	NP_478679	P56706	WNT7B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7B (WNT7B), mRNA.	329					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCACCAGTGGAATTTGCAG	0.657000														73			27		0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183711395	183711395	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:183711395C>T	uc001gqm.3	+	1	564	c.103C>T	c.(103-105)Cga>Tga	p.R35*	RGL1_uc010pof.1_5'UTR|RGL1_uc010pog.2_Nonsense_Mutation_p.R35*|RGL1_uc010poh.2_Nonsense_Mutation_p.R35*	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	0					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AGATCATGTTCGAATATGGGA	0.423000														132			32		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124389907	124389907	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124389907A>G	uc001lgk.1	+	44	5645	c.5539A>G	c.(5539-5541)Ata>Gta	p.I1847V	DMBT1_uc001lgl.1_Missense_Mutation_p.I1837V|DMBT1_uc001lgm.1_Missense_Mutation_p.I1219V|DMBT1_uc021qaf.1_Missense_Mutation_p.I1847V|DMBT1_uc021qag.1_Missense_Mutation_p.I1837V|DMBT1_uc021qah.1_Missense_Mutation_p.I1219V|DMBT1_uc009xzz.1_Missense_Mutation_p.I1847V|DMBT1_uc010qtx.1_Missense_Mutation_p.I567V|DMBT1_uc009yab.1_Missense_Mutation_p.I550V|DMBT1_uc009yac.1_Missense_Mutation_p.I141V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1847	CUB 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TACCAGGCAAATATTTACATC	0.408000														51			26		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046907	9046907	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9046907G>A	uc002mkp.3	-	4	34928	c.34724C>T	c.(34723-34725)gCc>gTc	p.A11575V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11577	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						GAGCCACGTGGCTGTAGTCTC	0.517000														22			8		0	0	1	0	0
CPLX3	594855	broad.mit.edu	37	15	75122545	75122545	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:75122545C>T	uc002ayu.1	+	2	1555	c.327C>T	c.(325-327)atC>atT	p.I109I		NM_001030005	NP_001025176	Q8WVH0	CPLX3_HUMAN	Homo sapiens complexin 3 (CPLX3), mRNA.	109						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						CCAAGATGATCGAGGAGGACA	0.617000														97			17		0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44278616	44278616	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44278616G>A	uc002oxl.3	-	2	807	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_002250	NP_002241	O15554	KCNN4_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA.	137					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	AGGGCTGCGGGGAGGTCAGCG	0.731000											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			5		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9036102	9036102	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:9036102G>A	uc003brf.1	-	18	3009	c.2333C>T	c.(2332-2334)tCg>tTg	p.S778L	SRGAP3_uc003brg.1_Missense_Mutation_p.S754L	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	778	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.S778S(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCAGTCCTCCGAGGCGCGGTG	0.587000			T	RAF1	pilocytic astrocytoma									80			29		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50279643	50279643	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:50279643C>T	uc001zxu.3	-	9	835	c.693G>A	c.(691-693)ctG>ctA	p.L231L	ATP8B4_uc010ber.3_Silent_p.L104L|ATP8B4_uc010ufd.2_Silent_p.L104L|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	231					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			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGCAGCCTCTCAGGATTATCT	0.448000														98			29		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82835440	82835440	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:82835440C>T	uc003kii.3	+	7	6974	c.6618C>T	c.(6616-6618)ttC>ttT	p.F2206F	VCAN_uc003kij.3_Silent_p.F1219F|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.F870F	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2206	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CACATTTTTTCTTAGCTACTG	0.373000														98			35		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165791	172165791	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:172165791C>T	uc003fib.2	-	0	456	c.413G>A	c.(412-414)aGc>aAc	p.S138N	GHSR_uc011bpv.2_Missense_Mutation_p.S138N	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	138					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCGCTCGACGCTCAGCGCTGT	0.622000														28			8		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644428	169644428	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:169644428C>T	uc003fgd.3	+	5	645	c.378C>T	c.(376-378)ttC>ttT	p.F126F	SAMD7_uc003fge.3_Silent_p.F126F|SAMD7_uc011bpo.2_Silent_p.F27F	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	126										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GGATACCCTTCCTCTATGGCT	0.502000														76			32		0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	32914070	32914070	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:32914070C>T	uc003amx.3	-	11	1732	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Missense_Mutation_p.E523K|SYN3_uc011amc.1_Missense_Mutation_p.E158K	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	524	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTGGACTCTTCACCCTGCTGG	0.602000														71			32		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84520207	84520207	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:84520207G>A	uc004eeq.3	+	5	1748	c.862G>A	c.(862-864)Gag>Aag	p.E288K	ZNF711_uc004eep.3_Missense_Mutation_p.E288K|ZNF711_uc004eeo.3_Missense_Mutation_p.E288K|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	288					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AATGCAGCGGGAGAAGATGGT	0.418000														29			41		0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39817345	39817345	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:39817345C>T	uc010gnw.3	-	3	534	c.239G>A	c.(238-240)aGc>aAc	p.S80N	ERG_uc021wjd.1_Missense_Mutation_p.S80N|ERG_uc002yxa.3_Missense_Mutation_p.S73N|ERG_uc011aek.2_Intron|ERG_uc010gnv.3_Intron|ERG_uc010gnx.3_Missense_Mutation_p.S80N|ERG_uc011ael.2_Missense_Mutation_p.S80N|ERG_uc002yxb.3_Missense_Mutation_p.S80N|ERG_uc011aem.1_Missense_Mutation_p.S73N|ERG_uc002yxc.4_Missense_Mutation_p.S80N	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	80					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				ATTCACCTGGCTAGGGTTACA	0.527000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									35			13		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22892237	22892237	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22892237G>A	uc002zwf.3	-	3	1020	c.864C>T	c.(862-864)ttC>ttT	p.F288F	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Silent_p.F272F|PRAME_uc010gtr.3_Silent_p.F288F|PRAME_uc002zwg.3_Silent_p.F288F|PRAME_uc002zwh.3_Silent_p.F288F|PRAME_uc002zwi.3_Silent_p.F288F|PRAME_uc002zwj.3_Silent_p.F288F|PRAME_uc002zwk.3_Silent_p.F288F	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	288					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ACTGAGAGGTGAACTGGGCGA	0.522000														66			27		0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136320418	136320418	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:136320418C>T	uc004cdv.4	+	24	3705	c.3261C>T	c.(3259-3261)tcC>tcT	p.S1087S	ADAMTS13_uc004cdp.4_Silent_p.S314S|ADAMTS13_uc004cdt.1_Silent_p.S1087S|ADAMTS13_uc004cdu.1_Silent_p.S1056S|ADAMTS13_uc004cdw.4_Silent_p.S1087S|ADAMTS13_uc004cdx.4_Silent_p.S1056S|ADAMTS13_uc004cdz.4_Silent_p.S757S|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.4_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	1087	TSP type-1 8.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCTCTGTTTCCTGTGGGGATG	0.617000														167			20		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3102809	3102809	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3102809C>T	uc001akf.3	+	1	240	c.158C>T	c.(157-159)cCc>cTc	p.P53L	PRDM16_uc001ake.3_Missense_Mutation_p.P53L|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.P53L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	53					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCACCGTCCCCCTTCCCCACC	0.647000			T	EVI1	"""MDS, AML"""									102			13		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5235236	5235236	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:5235236G>A	uc003jdl.3	+	12	2098	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	ADAMTS16_uc003jdk.1_Missense_Mutation_p.E654K|ADAMTS16_uc010itk.1_Non-coding_Transcript	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	654	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A653A(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCAGTGTGCCGAGCACAACAG	0.527000														63			23		0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41166002	41166002	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:41166002C>T	uc010jxm.1	-	1	400	c.221G>A	c.(220-222)gGg>gAg	p.G74E		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	74	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	p.G74V(1)|p.Q73K(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTAGCGGGGCCCTTTCACCCA	0.577000														128			48		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190234049	190234050	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:190234049_190234050CC>TT	uc001gse.1	-	3	795_796	c.563_564GG>AA	c.(562-564)agg>aAA	p.R188K	FAM5C_uc010pot.1_Missense_Mutation_p.R86K	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	188						extracellular region		p.R188G(1)|p.D187E(1)		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)					GGGTGCTGTCCCTGTCAATGAA	0.441000														99			43		0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51020884	51020884	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51020884C>T	uc002pss.3	-	2	2223	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K	ASPDH_uc002psr.4_5'Flank	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	696						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AGCAGAGGTTCGTGGATGGAG	0.697000														25			10		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47514238	47514238	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47514238G>A	uc001cqt.3	+	10	1458	c.1208_splice	c.e10-1	p.G403_splice	CYP4X1_uc001cqr.3_Splice_Site_p.G402_splice|CYP4X1_uc001cqs.3_Splice_Site_p.G338_splice	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	403						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CTTTCTTAGGGATCACCGTGG	0.428000														267			73		0	0	1	0	0
KLC2	64837	broad.mit.edu	37	11	66026257	66026257	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66026257C>T	uc010rov.1	+	1	435	c.192C>T	c.(190-192)tcC>tcT	p.S64S	KLC2_uc010row.1_Silent_p.S64S|KLC2_uc001ohb.2_Silent_p.S64S|KLC2_uc010rox.1_Silent_p.S64S|KLC2_uc001ohc.2_Silent_p.S64S|KLC2_uc001ohd.2_Silent_p.S64S|KLC2_uc001ohe.1_5'Flank	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	64					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TGCGTCGCTCCCTGGAAGCCA	0.662000											OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			12		0	0	1	0	0
FSCN2	25794	broad.mit.edu	37	17	79495959	79495959	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:79495959C>T	uc010wuo.2	+	0	543	c.402C>T	c.(400-402)caC>caT	p.H134H	FSCN2_uc010wup.2_Silent_p.H134H	NM_001077182	NP_001070650	O14926	FSCN2_HUMAN	Homo sapiens fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2, mRNA.	134					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGACCGTGCACCTGGCCATCC	0.711000														8			3		0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20976437	20976437	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:20976437C>T	uc003zog.1	+	37	4514	c.4151C>T	c.(4150-4152)cCt>cTt	p.P1384L	FOCAD_uc003zoh.1_Missense_Mutation_p.P820L	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1384						integral to membrane	binding										TCTGTGCCTCCTTCCCTTCTT	0.418000														245			25		0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891358	30891358	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:30891358G>A	uc003aid.2	-	4	406	c.306C>T	c.(304-306)atC>atT	p.I102I	SEC14L4_uc011akz.1_Silent_p.I102I|SEC14L4_uc003aie.2_Silent_p.I87I|SEC14L4_uc003aif.2_Silent_p.I48I	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	102	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GGGACCCAATGATGTTGAAGT	0.547000														67			25		0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590235	125590235	+	Silent	SNP	G	A	A	rs138487103		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:125590235G>A	uc010inw.3	-	3	5235	c.4197C>T	c.(4195-4197)tcC>tcT	p.S1399S	ANKRD50_uc011cgo.2_Silent_p.S1220S	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	1399										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTGTCTCTGAGGAAGGGTATC	0.413000														68			28		0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71256160	71256160	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:71256160C>T	uc010ukf.2	+	8	1131	c.825C>T	c.(823-825)tcC>tcT	p.S275S	LRRC49_uc002asu.3_Silent_p.S260S|LRRC49_uc002asx.3_Silent_p.S226S|LRRC49_uc002asw.3_Silent_p.S270S|LRRC49_uc002asy.3_5'UTR|LRRC49_uc002asz.3_Silent_p.S242S	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	270						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ACTCTTCTTCCCTCTCGGACA	0.433000														332			53		0	0	1	0	0
APOF	319	broad.mit.edu	37	12	56755842	56755842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56755842G>A	uc001sle.1	-	1	202	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S		NM_001638	NP_001629	Q13790	APOF_HUMAN	Homo sapiens apolipoprotein F (APOF), mRNA.	50					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding	p.P50L(2)|p.P50P(1)		breast(1)|lung(3)|prostate(1)|stomach(1)	6						AAGGACAAGGGAAAGTGCATC	0.517000														118			23		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160786439	160786439	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160786439C>T	uc001fwu.3	+	4	1178	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	LY9_uc001fwv.3_Silent_p.I376I|LY9_uc001fww.3_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.3_Silent_p.I28I	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	376	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGGATGGCATCTGCAGGATCA	0.592000														21			8		0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16067687	16067687	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:16067687G>A	uc003jfo.2	-	3	1315	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	MARCH11_uc010itw.1_Nonsense_Mutation_p.Q124*	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	368						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						TAGCCACACTGAAACCTTGGT	0.498000														130			47		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6244522	6244522	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:6244522G>A	uc002kmz.4	-	5	445	c.285C>T	c.(283-285)ccC>ccT	p.P95P	L3MBTL4_uc002kmy.4_Silent_p.P95P|L3MBTL4_uc010dkt.3_Silent_p.P95P	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	95					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ATGGATGTCGGGGATCAATGC	0.418000														149			68		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411151	126411151	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126411151C>T	uc003ifj.4	+	16	13174	c.13174C>T	c.(13174-13176)Ccc>Tcc	p.P4392S	FAT4_uc011cgp.2_Missense_Mutation_p.P2633S|FAT4_uc003ifi.1_Missense_Mutation_p.P1869S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4392	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAAAACAGATCCCTCAGTGAA	0.512000														243			104		0	0	1	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37962694	37962694	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37962694C>T	uc003asz.4	+	1	741	c.338C>T	c.(337-339)tCc>tTc	p.S113F		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	113					positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCGGCCATCTCCCCCATCATC	0.682000														109			40		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28648063	28648063	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28648063C>T	uc002kwl.4	-	15	3078	c.2624G>A	c.(2623-2625)cGa>cAa	p.R875Q	DSC2_uc002kwk.4_3'UTR	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	875					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTCTTCTTGTCGTTCACTGCA	0.413000														79			33		0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60493656	60493656	+	Missense_Mutation	SNP	G	A	A	rs140338043	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:60493656G>A	uc010wpc.2	+	11	1510	c.1439G>A	c.(1438-1440)aGa>aAa	p.R480K	EFCAB3_uc002izu.2_Missense_Mutation_p.R428K	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	428							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GGAAGAAAAAGAAAACGGAAA	0.333000														104			33		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873438	55873438	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55873438G>A	uc010riy.2	+	0	920	c.920G>A	c.(919-921)aGa>aAa	p.R307K		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q306Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GTCATGCAGAGAAGACAGGAC	0.353000										HNSCC(53;0.14)				121			42		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76472668	76472668	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:76472668C>T	uc003yaq.3	+	9	1342	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S	HNF4G_uc003yar.3_Missense_Mutation_p.P395S	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	358					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ACTTTTAGGTCCCATGTCAAC	0.393000														42			11		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666583	167666583	+	Missense_Mutation	SNP	G	A	A	rs142342977	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167666583G>A	uc001gem.3	+	5	909	c.722G>A	c.(721-723)aGg>aAg	p.R241K	RCSD1_uc010pli.2_Missense_Mutation_p.R211K	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	241	RCSD.									NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCTCTGAGGAGGTCACCCAGC	0.617000														31			13		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808058	18808058	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:18808058G>A	uc001bax.3	+	0	635	c.583G>A	c.(583-585)Gag>Aag	p.E195K	KLHDC7A_uc009vpg.3_5'UTR	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	195						integral to membrane		p.E195K(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TAAACCCCGTGAGCATCCAGG	0.612000														51			17		0	0	1	0	0
C14orf133	63894	broad.mit.edu	37	14	77910637	77910637	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:77910637G>A	uc001xtt.2	-	8	969	c.552C>T	c.(550-552)ctC>ctT	p.L184L	C14orf133_uc001xtu.2_Silent_p.L184L|C14orf133_uc001xtv.2_Silent_p.L184L|C14orf133_uc021rwu.1_Silent_p.L184L|C14orf133_uc010tvj.2_Silent_p.L135L	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.	184					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding							Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCTCTTCTAGGAGTTGTAGTT	0.383000														56			21		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64630177	64630177	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:64630177C>T	uc001xgl.3	+	88	16587	c.16357C>T	c.(16357-16359)Ctg>Ttg	p.L5453L	SYNE2_uc001xgm.3_Silent_p.L5453L|SYNE2_uc010apy.3_Silent_p.L1838L|SYNE2_uc001xgn.3_Silent_p.L415L|SYNE2_uc021rui.1_Silent_p.L415L|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_5'UTR	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5453					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCCAGTGTCCTGGATCGACT	0.527000														80			19		0	0	1	0	0
C10orf81	79949	broad.mit.edu	37	10	115526432	115526432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115526432C>T	uc001lat.2	+	2	723	c.161C>T	c.(160-162)tCc>tTc	p.S54F	C10orf81_uc009xyc.2_5'UTR|C10orf81_uc001lar.2_Missense_Mutation_p.S60F|C10orf81_uc001las.2_Intron	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	54	PH.									central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		TTTAGTCTTTCCTATTATAAA	0.338000														86			32		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58567466	58567466	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:58567466C>T	uc002ybe.3	+	9	1628	c.1317C>T	c.(1315-1317)gtC>gtT	p.V439V	CDH26_uc002ybf.1_Silent_p.V19V|CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	439	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CAAATTGGGTCAGCGTCGACA	0.383000														40			11		0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1719914	1719914	+	Silent	SNP	C	T	T	rs150074892		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:1719914C>T	uc004cqa.3	+	4	1711	c.1515C>T	c.(1513-1515)gcC>gcT	p.A505A	AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.	505					B cell activation|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|signal transduction	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						ACCCAGAGGCCGACGGCGCTC	0.716000														6			4		0	0	1	0	0
TRIM40	135644	broad.mit.edu	37	6	30104940	30104940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30104940G>A	uc003npk.2	+	1	513	c.127G>A	c.(127-129)Gag>Aag	p.E43K	TRIM40_uc003npm.2_Missense_Mutation_p.E43K	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	Homo sapiens tripartite motif containing 40 (TRIM40), mRNA.	43						intracellular	zinc ion binding			ovary(1)	1						ACAGCATGTGGAGAAGGCCTC	0.612000														47			16		0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	91996156	91996156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:91996156G>A	uc004aqo.1	-	15	2124	c.1552C>T	c.(1552-1554)Ccc>Tcc	p.P518S	SEMA4D_uc011ltm.1_Missense_Mutation_p.P518S|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.P518S	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	518	PSI.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GCGCAGTAGGGGTCCCGCGCC	0.687000														13			10		0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067213	18067213	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:18067213C>T	uc003stz.3	-	0	274	c.193G>A	c.(193-195)Gac>Aac	p.D65N		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	65					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.N64N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					ATTAGACTGTCGTTGATTTCG	0.478000														286			120		0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758549	5758549	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5758549C>T	uc001mbt.2	+	0	872	c.803C>T	c.(802-804)tCa>tTa	p.S268L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GTAGTGATTTCAGTGACTCAT	0.443000														276			107		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231120199	231120199	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:231120199G>A	uc002vql.3	+	11	1307	c.1192G>A	c.(1192-1194)Gga>Aga	p.G398R	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Missense_Mutation_p.G364R|SP140_uc002vqn.3_Missense_Mutation_p.G284R|SP140_uc002vqm.3_Missense_Mutation_p.G338R|SP140_uc010fxl.3_Intron	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	398					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AATGTGTGATGGAGAAGAGCG	0.527000														72			22		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23896924	23896924	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23896924C>T	uc001wjx.3	-	15	1864	c.1758G>A	c.(1756-1758)gtG>gtA	p.V586V		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	586	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.V586M(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGTTGTAGTCCACGATGCCGG	0.532000														70			26		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17554814	17554814	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17554814C>T	uc001mnf.3	-	1	201	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	USH1C_uc001mne.3_Missense_Mutation_p.R31Q|USH1C_uc009yhb.3_Missense_Mutation_p.R31Q|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_5'UTR	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	31					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.R31R(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GTGGTACATTCGCAGCACATC	0.507000														75			29		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163250956	163250956	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:163250956C>T	uc002uch.2	-	11	2882	c.2653G>A	c.(2653-2655)Gga>Aga	p.G885R		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	885					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CAGTTGTCTCCTTCTGAATCA	0.333000														68			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107048774	107048774	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:107048774C>T	uc021ser.1	-	169		c.7256G>A								Parts of antibodies, mostly variable regions.																		ATCGGCCCTTCACGGAGTCTG	0.537000														412			61		0	0	1	0	0
C20orf79	140856	broad.mit.edu	37	20	18794508	18794508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:18794508C>T	uc002wrk.3	+	0	139	c.49C>T	c.(49-51)Cct>Tct	p.P17S	C20orf78_uc002wrj.2_Intron	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN	Homo sapiens chromosome 20 open reading frame 79 (C20orf79), mRNA.	17							sterol binding			NS(1)|breast(1)|large_intestine(2)|lung(4)|skin(4)	12						AGAGGATGGACCTCTGGTGGG	0.522000														49			11		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545895	234545895	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234545895G>A	uc002vur.3	+	0	773	c.727G>A	c.(727-729)Gat>Aat	p.D243N	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.D243N	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	246					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CACGGCATATGATCTCTACAG	0.433000														565			50		0	0	1	0	0
DGAT2	84649	broad.mit.edu	37	11	75509332	75509332	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:75509332C>T	uc001oxa.3	+	6	1129	c.870C>T	c.(868-870)ttC>ttT	p.F290F	DGAT2_uc001oxb.3_Silent_p.F247F	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA.	290					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					AGGTGATCTTCGAGGAGGGCT	0.537000														159			69		0	0	1	0	0
SLC46A3	283537	broad.mit.edu	37	13	29278138	29278138	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29278138G>A	uc001usj.3	-	4	1785	c.1243C>T	c.(1243-1245)Cct>Tct	p.P415S	SLC46A3_uc001usg.3_Missense_Mutation_p.P340S|SLC46A3_uc001usi.3_Missense_Mutation_p.P415S|SLC46A3_uc001ush.3_Missense_Mutation_p.P415S	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	415					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GTGAAGCCAGGGTACCAAGCA	0.408000														51			17		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17690098	17690098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17690098G>A	uc001baj.2	+	15	1868	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	614					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CTGCCTGGAGGAGAAGGTGTG	0.617000														24			11		0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24902212	24902212	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:24902212G>A	uc002dmu.3	+	8	918	c.687G>A	c.(685-687)atG>atA	p.M229I	SLC5A11_uc002dms.3_Missense_Mutation_p.M165I|SLC5A11_uc010vcd.2_Missense_Mutation_p.M194I|SLC5A11_uc002dmt.3_Intron|SLC5A11_uc010vce.2_Missense_Mutation_p.M159I|SLC5A11_uc010bxt.3_Missense_Mutation_p.M165I	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	229					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTGGTGGGATGGAAGGACTGA	0.547000														164			53		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45923763	45923763	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:45923763C>T	uc010gzz.3	+	4	619	c.472C>T	c.(472-474)Cag>Tag	p.Q158*	FBLN1_uc003bgg.1_Nonsense_Mutation_p.Q120*|FBLN1_uc003bgh.3_Nonsense_Mutation_p.Q120*|FBLN1_uc003bgi.1_Nonsense_Mutation_p.Q120*|FBLN1_uc003bgj.1_Nonsense_Mutation_p.Q120*	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	120					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GAGGGCGGCCCAGGCCCAGGG	0.627000														116			20		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152086448	152086448	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152086448G>A	uc009wne.1	-	1	381	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	TCHH_uc001ezp.2_Missense_Mutation_p.L37F	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	37	EF-hand 1.|S-100-like.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCTTTCAAGGAGGTTCTTC	0.403000														125			21		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902119	51902119	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:51902119C>T	uc002iua.2	+	0	1881	c.1725C>T	c.(1723-1725)tcC>tcT	p.S575S	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	575					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGAAATGTCCCTTCAGAGGG	0.403000														71			20		0	0	1	0	0
LOC729020	729020	broad.mit.edu	37	10	105006081	105006081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105006081G>A	uc009xxi.2	+	0	438	c.328G>A	c.(328-330)Gag>Aag	p.E110K	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	110					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										AGACATTCGGGAGAATGGGAT	0.463000														122			10		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412022	19412022	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19412022G>A	uc010tcj.1	-	0		c.34088C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ATTAGCCTGAGATATTTCTTG	0.393000														100			43		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3645678	3645678	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3645678G>A	uc002cvp.2	-	8	2568	c.1941C>T	c.(1939-1941)ccC>ccT	p.P647P		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	647	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GAAGGCCGCCGGGCACCACGT	0.622000								Direct reversal of damage						38			14		0	0	1	0	0
KPNA6	23633	broad.mit.edu	37	1	32635512	32635512	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32635512C>T	uc010ogy.2	+	12	1316	c.1289C>T	c.(1288-1290)cCc>cTc	p.P430L	KPNA6_uc001bug.3_Missense_Mutation_p.P425L|KPNA6_uc001buh.3_Missense_Mutation_p.P200L|KPNA6_uc010ogx.2_Missense_Mutation_p.P422L	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	425					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGCATCAAACCCCTATGTGAC	0.542000														144			50		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2350132	2350132	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2350132C>T	uc002cpy.1	-	12	2197	c.1485G>A	c.(1483-1485)ggG>ggA	p.G495G	ABCA3_uc010bsk.1_Silent_p.G437G|ABCA3_uc010bsl.1_Silent_p.G495G	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	495					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCCTTGGCTTCCCACACCAAT	0.547000														83			42		0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198469	170198469	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:170198469C>T	uc003fgz.2	-	6	1918	c.1602G>A	c.(1600-1602)aaG>aaA	p.K534K	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	534						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CAATCAGCTTCTTTAACTTGA	0.507000														100			39		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179475048	179475048	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179475048C>T	uc021vsy.1	-	219	43726	c.43501G>A	c.(43501-43503)Gaa>Aaa	p.E14501K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E8196K|TTN_uc021vta.1_Missense_Mutation_p.E8129K|TTN_uc021vtb.1_Missense_Mutation_p.E8004K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15428	Fibronectin type-III 4.						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)			TCTGGAGGTTCCCAAGTTAAC	0.398000														114			53		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54914924	54914924	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54914924G>A	uc001sgc.4	+	17	1859	c.1780G>A	c.(1780-1782)Ggt>Agt	p.G594S	NCKAP1L_uc010sox.2_Missense_Mutation_p.G136S|NCKAP1L_uc010soy.2_Missense_Mutation_p.G544S	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	594					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CAAGAACCATGGTCTTCACCA	0.537000														108			12		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2820136	2820136	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2820136G>A	uc022aqr.1	-	60	9870	c.9480C>T	c.(9478-9480)atC>atT	p.I3160I	CSMD1_uc011kwj.2_Silent_p.I2490I|CSMD1_uc010lrg.3_Silent_p.I1052I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3161	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTCTGCGGGGATGCCAGGGT	0.493000														11			12		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170729	207170729	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:207170729G>A	uc002vbp.2	+	4	1727	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	493							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAGTAGTTCTGAAACGAATTT	0.393000														51			12		0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18188342	18188342	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18188342C>T	uc002nhx.1	-	5	704	c.653G>A	c.(652-654)aGc>aAc	p.S218N	IL12RB1_uc002nhw.1_Missense_Mutation_p.S178N|IL12RB1_uc010xqb.1_Missense_Mutation_p.S178N|IL12RB1_uc002nhy.3_Missense_Mutation_p.S178N	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	178	Fibronectin type-III 2.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCATGGGCTGCTGGGTGTCCG	0.597000														17			8		0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113999136	113999136	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113999136C>T	uc010yxt.2	-	6	935	c.769G>A	c.(769-771)Ggc>Agc	p.G257S	PAX8_uc010yxu.2_Missense_Mutation_p.G257S|PAX8_uc002tjm.3_Missense_Mutation_p.G257S|PAX8_uc002tjn.3_Missense_Mutation_p.G257S|PAX8_uc010fku.1_Missense_Mutation_p.G257S|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	257					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						ACCTGCTCGCCTTTGGTGTGG	0.617000			T	PPARG	follicular thyroid		Thyroid dysgenesis							4			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348165	140348165	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140348165C>T	uc003lii.3	+	0	2419	c.1814C>T	c.(1813-1815)aCc>aTc	p.T605I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.T605I	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	605	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T605T(1)		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)			TACCTGGTCACCAAAGTCATA	0.517000														40			18		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87679359	87679359	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:87679359G>A	uc003ydx.3	-	5	694	c.646C>T	c.(646-648)Cga>Tga	p.R216*	CNGB3_uc010maj.3_Nonsense_Mutation_p.R78*	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	216					signal transduction|visual perception	integral to membrane	cGMP binding	p.R216*(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGATAGAGTCGATCTGGAAAA	0.453000														21			8		0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375806	93375806	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:93375806C>T	uc022bjs.1	-	0	304	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	DIRAS2_uc004aqx.1_Missense_Mutation_p.E102K	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	102					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.E102K(6)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CAGATTTGTTCGTAGATGGGC	0.592000														106			10		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939141	2939141	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:2939141G>A	uc001ajz.3	+	0	1096	c.891G>A	c.(889-891)ggG>ggA	p.G297G		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	297						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TCCTCTTTGGGGAGATTGTGC	0.607000														90			35		0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85279804	85279804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:85279804C>T	uc001dkl.2	-	1	826	c.787G>A	c.(787-789)Ggc>Agc	p.G263S	LPAR3_uc009wcj.1_Missense_Mutation_p.G263S	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	263					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAGTTCAGGCCGTCGAGGAGC	0.582000														65			34		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137658856	137658856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:137658856G>A	uc004cfe.3	+	22	2526	c.2144G>A	c.(2143-2145)gGa>gAa	p.G715E		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	715	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGTCCCCAGGGAGAGCCTGGC	0.647000														19			5		0	0	1	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74644535	74644535	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:74644535G>A	uc004ecg.3	-	7	1166	c.688C>T	c.(688-690)Ctc>Ttc	p.L230F	ZDHHC15_uc004ech.3_Missense_Mutation_p.L221F|ZDHHC15_uc011mqo.1_Non-coding_Transcript	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	Homo sapiens zinc finger, DHHC-type containing 15 (ZDHHC15), transcript variant 1, mRNA.	230						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TAACCAAAGAGAATCACAAGG	0.378000														13			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188634	140188634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140188634C>T	uc003lhi.2	+	0	1963	c.1862C>T	c.(1861-1863)cCg>cTg	p.P621L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.P621L|PCDHAC2_uc011daa.2_Missense_Mutation_p.P621L	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	632	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P621L(2)		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)			GCGCGCATCCCGTTCCGCGTG	0.672000														84			25		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158596730	158596730	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158596730G>A	uc001fst.1	-	40	5931	c.5732C>T	c.(5731-5733)cCt>cTt	p.P1911L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1911					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCCAGAGAAGGGGTCTTTTC	0.428000														149			63		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179107	55179107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55179107C>T	uc002qgp.3	+	10	1425	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	LILRB4_uc002qgq.3_Missense_Mutation_p.P354S|LILRB4_uc010ert.3_Missense_Mutation_p.P396S|LILRB4_uc010eru.3_Missense_Mutation_p.P385S	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.	355						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)		CGATGAAGACCCCCAGGCAGT	0.567000														80			16		0	0	1	0	0
ACTG2	72	broad.mit.edu	37	2	74140694	74140694	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74140694C>T	uc002sjw.3	+	5	656	c.534C>T	c.(532-534)cgC>cgT	p.R178R	ACTG2_uc010yrn.2_Silent_p.R135R|ACTG2_uc010fey.3_Silent_p.R178R	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	178					muscle contraction	cytoskeleton|cytosol	ATP binding	p.R178C(1)		large_intestine(3)|lung(14)|skin(1)	18						CCATCATGCGCCTGGACTTGG	0.552000														105			32		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71535217	71535217	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:71535217C>T	uc002atb.1	+	3	773	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	232	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAGTGGCCCTCGCTCTGGACT	0.577000														99			22		0	0	1	0	0
RASSF10	644943	broad.mit.edu	37	11	13032633	13032633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:13032633G>A	uc021qdz.1	+	0	1664	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K		NM_001080521	NP_001073990	A6NK89	RASFA_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 10 (RASSF10), mRNA.	504					signal transduction										Epithelial(150;0.00399)		GCCCATGTGCGAATCCCTTGT	0.632000														11			3		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220326713	220326713	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220326713G>A	uc010fwg.3	+	6	2550	c.2550G>A	c.(2548-2550)atG>atA	p.M850I	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_Missense_Mutation_p.M58I|SPEG_uc002vln.1_Missense_Mutation_p.M58I|SPEG_uc002vlp.1_Missense_Mutation_p.M58I|SPEG_uc002vlq.3_Missense_Mutation_p.M1I	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	850					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCCACCATGAAGCCCAGTC	0.647000														100			40		0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190925110	190925110	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:190925110A>C	uc002urp.3	-	1	558	c.425T>G	c.(424-426)tTt>tGt	p.F142C		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	142					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTTAGAGCTAAATTTAAAGAA	0.333000														59			18		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45670699	45670699	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45670699G>A	uc002zeg.1	-	9	1387	c.903C>T	c.(901-903)ttC>ttT	p.F301F	DNMT3L_uc002zeh.1_Silent_p.F301F	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	301					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GCACCTCCAGGAAGCGAGATG	0.647000														92			30		0	0	1	0	0
CCDC24	149473	broad.mit.edu	37	1	44457929	44457929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44457929G>A	uc001clj.3	+	2	343	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc009vxc.3_Intron	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	Homo sapiens coiled-coil domain containing 24 (CCDC24), mRNA.	58										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ATCCTCTCAAGCCCCCAGCTC	0.632000														158			38		0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84233940	84233940	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:84233940G>A	uc003pjz.3	+	1	1020	c.780G>A	c.(778-780)ccG>ccA	p.P260P	PRSS35_uc010kbm.3_Silent_p.P260P|PRSS35_uc021zce.1_Silent_p.P260P	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	260	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)		CCCACATTCCGAAGGGCTGGG	0.537000														28			4		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29651802	29651802	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:29651802C>T	uc001bru.3	+	29	4371	c.4242C>T	c.(4240-4242)acC>acT	p.T1414T	PTPRU_uc009vtq.3_Silent_p.T1408T|PTPRU_uc009vtr.3_Silent_p.T1401T|PTPRU_uc001brw.3_Silent_p.T1404T|PTPRU_uc001brx.3_Silent_p.T140T	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	1414	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTGCCAAAACCCTCCGGAACT	0.612000														125			49		0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234357778	234357778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234357778C>T	uc002vui.1	+	14	1656	c.1644C>T	c.(1642-1644)tcC>tcT	p.S548S	DGKD_uc002vuj.1_Silent_p.S504S|DGKD_uc010fyh.1_Silent_p.S415S|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	548					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGCTGGATTCCCTTCTCAAGA	0.587000														144			57		0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230846180	230846180	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:230846180G>A	uc001hty.4	-	1	925	c.417C>T	c.(415-417)gtC>gtT	p.V139V	AGT_uc009xff.3_Silent_p.V111V	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	139					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	p.A138T(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	GGGTGCCAAAGACAGCCGTTG	0.582000														87			45		0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108998259	108998259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:108998259G>A	uc002tea.1	+	1	584	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Missense_Mutation_p.E71K	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	71					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						AATACAAAATGAAGGTGATGT	0.378000														51			20		0	0	1	0	0
LGALS9	3965	broad.mit.edu	37	17	25967717	25967717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:25967717C>T	uc002gzp.3	+	2	369	c.251C>T	c.(250-252)cCc>cTc	p.P84L	LGALS9_uc002gzq.3_Missense_Mutation_p.P84L|LGALS9_uc002gzr.3_Missense_Mutation_p.P27L|LGALS9_uc010waa.2_Missense_Mutation_p.P27L	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	84	Beta-galactoside binding 1.|Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	p.G83V(2)		endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		AGCTGGGGGCCCGAGGAGAGG	0.547000														56			49		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468644	86468644	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:86468644C>T	uc003uid.3	+	3	2913	c.1814C>T	c.(1813-1815)cCc>cTc	p.P605L	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.P477L|GRM3_uc010leh.3_Missense_Mutation_p.P197L	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	605					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)	AACAACACACCCTTGGTCAAA	0.483000														85			23		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94488981	94488981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:94488981G>A	uc004arj.2	-	7	1427	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	ROR2_uc004ari.1_Missense_Mutation_p.P270S|ROR2_uc004ark.3_Silent_p.S398S	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	410					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCGATGCTGGGGACCAAGATG	0.498000														50			29		0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67290926	67290926	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67290926C>T	uc002esm.3	+	6	1308	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	SLC9A5_uc010cee.3_Silent_p.L120L|SLC9A5_uc010vji.2_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	415					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CCTTTGCTCTCGTCATCCTAC	0.557000														113			54		0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6756023	6756023	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6756023C>T	uc001qpu.1	-	1	247	c.199G>A	c.(199-201)Ggc>Agc	p.G67S	ACRBP_uc010sfg.1_Missense_Mutation_p.G67S	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	67						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TTCCGGCAGCCGTGGGTTGCA	0.602000														39			21		0	0	1	0	0
MARCH5	54708	broad.mit.edu	37	10	94109519	94109519	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:94109519C>T	uc001khx.1	+	4	977	c.645C>T	c.(643-645)gtC>gtT	p.V215V	MARCH5_uc010qno.1_Silent_p.V111V	NM_017824	NP_060294	Q9NX47	MARH5_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 5 (MARCH5), mRNA.	215					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GAGCCCTTGTCTTTCCTACTA	0.403000														175			95		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225122	21225122	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21225122G>A	uc002red.3	-	28	13300	c.13172C>T	c.(13171-13173)cCa>cTa	p.P4391L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4391					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AACTATACTTGGATCAAAATA	0.363000														69			33		0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41750565	41750565	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:41750565C>T	uc003gwf.4	-	0	423	c.63G>A	c.(61-63)atG>atA	p.M21I		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	21					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TCGAGGTGTCCATCCCAGCCA	0.498000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					31			12		0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35242161	35242161	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:35242161T>A	uc011kas.2	-	7	1705	c.1225A>T	c.(1225-1227)Agt>Tgt	p.S409C		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	409						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GTGGGGCCACTCCCTTGCATG	0.557000														27			7		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21158759	21158759	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:21158759C>T	uc001iqi.3	-	5	889	c.492G>A	c.(490-492)agG>agA	p.R164R	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	164					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCACGTCTTTCCTATAAGAAA	0.363000														70			16		0	0	1	0	0
BC043541	0	broad.mit.edu	37	1	43352383	43352383	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:43352383C>T	uc001cij.1	+	3		c.285C>T								Homo sapiens cDNA clone IMAGE:5170739.																		TTGTCTTCCCCCTCGTTGCTG	0.552000														23			7		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1032042	1032042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1032042C>T	uc001lsw.2	-	2	178	c.127G>A	c.(127-129)Ggc>Agc	p.G43S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	43					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGCACTGGCCTTTGTCCGGG	0.637000														28			9		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88678498	88678498	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:88678498C>T	uc002bme.2	-	9	1344	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	NTRK3_uc002bmh.2_Silent_p.K346K|NTRK3_uc002bmf.2_Silent_p.K346K|NTRK3_uc021sua.1_Silent_p.K346K|NTRK3_uc010upl.1_Silent_p.K248K|NTRK3_uc010bnh.1_Silent_p.K346K|NTRK3_uc002bmg.3_Silent_p.K346K	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	346	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CATGGATGATCTTGGACTCCC	0.567000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				140			10		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48667926	48667926	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48667926C>T	uc002irk.1	+	9	2768	c.2396C>T	c.(2395-2397)cCc>cTc	p.P799L	CACNA1G_uc002iri.1_Missense_Mutation_p.P799L|CACNA1G_uc002irj.1_Missense_Mutation_p.P799L|CACNA1G_uc002irl.1_Missense_Mutation_p.P799L|CACNA1G_uc002irm.1_Missense_Mutation_p.P799L|CACNA1G_uc002irn.1_Missense_Mutation_p.P799L|CACNA1G_uc002iro.1_Missense_Mutation_p.P799L|CACNA1G_uc002irp.1_Missense_Mutation_p.P799L|CACNA1G_uc002irq.1_Missense_Mutation_p.P799L|CACNA1G_uc002irr.1_Missense_Mutation_p.P799L|CACNA1G_uc002irs.1_Missense_Mutation_p.P799L|CACNA1G_uc002irt.1_Missense_Mutation_p.P799L|CACNA1G_uc002iru.1_Missense_Mutation_p.P799L|CACNA1G_uc002irv.1_Missense_Mutation_p.P799L|CACNA1G_uc002irw.1_Missense_Mutation_p.P799L|CACNA1G_uc002irx.1_Missense_Mutation_p.P712L|CACNA1G_uc002iry.1_Missense_Mutation_p.P712L|CACNA1G_uc002isg.1_Missense_Mutation_p.P712L|CACNA1G_uc002ish.1_Missense_Mutation_p.P712L|CACNA1G_uc002isi.1_Missense_Mutation_p.P712L|CACNA1G_uc002irz.1_Missense_Mutation_p.P712L|CACNA1G_uc002isa.1_Missense_Mutation_p.P712L|CACNA1G_uc002isd.1_Missense_Mutation_p.P712L|CACNA1G_uc002isb.1_Missense_Mutation_p.P712L|CACNA1G_uc002isc.1_Missense_Mutation_p.P712L|CACNA1G_uc002ise.1_Missense_Mutation_p.P712L|CACNA1G_uc002isf.1_Missense_Mutation_p.P712L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	799					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGTATGGTCCCTTTGGCTAC	0.517000														40			8		0	0	1	0	0
UBE2F	140739	broad.mit.edu	37	2	238944540	238944540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:238944540C>T	uc002vxk.3	+	8	670	c.466C>T	c.(466-468)Cca>Tca	p.P156S	UBE2F_uc010zno.2_Non-coding_Transcript|UBE2F_uc010znn.2_Missense_Mutation_p.P124S|UBE2F_uc010znp.2_3'UTR|SCLY_uc002vxm.4_5'UTR	NM_080678	NP_542409	Q969M7	UBE2F_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2F (putative) (UBE2F), transcript variant 1, mRNA.	156					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		TTTTGATGATCCACTGAATAT	0.373000														44			15		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43819490	43819490	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43819490G>A	uc001zrt.3	+	3	6286	c.5819G>A	c.(5818-5820)aGc>aAc	p.S1940N		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1940						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCAGCAAAAGCCATGCCACC	0.547000														73			37		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140731807	140731807	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140731807C>T	uc003ljo.2	+	0	1980	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljq.2_5'Flank|PCDHGC5_uc011daq.2_Silent_p.F660F|PCDHGC5_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	666	Cadherin 6.				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)			ACCTAATCTTCGCGGATAGCC	0.657000														116			40		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56552397	56552397	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56552397G>A	uc002qmj.3	+	10	2896	c.2896G>A	c.(2896-2898)Gaa>Aaa	p.E966K	NLRP5_uc002qmi.3_Missense_Mutation_p.E947K	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	966						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGGGGAACGAAGGTGTAAA	0.567000														142			51		0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91198523	91198523	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:91198523G>A	uc001kgm.3	-	5	1167	c.866C>T	c.(865-867)tCc>tTc	p.S289F	SLC16A12_uc001kgl.3_5'Flank	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	259						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AAACAGAACGGAGACGGCTAA	0.448000														55			25		0	0	1	0	0
TIGD2	166815	broad.mit.edu	37	4	90035004	90035004	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:90035004C>T	uc003hsk.3	+	0	1037	c.879C>T	c.(877-879)ttC>ttT	p.F293F	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	Homo sapiens tigger transposable element derived 2 (TIGD2), mRNA.	293	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TTTTAGATTTCCCCCCAGCAC	0.393000														83			35		0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112358338	112358338	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:112358338G>A	uc003dzf.3	-	1	633	c.415C>T	c.(415-417)Ccc>Tcc	p.P139S	CCDC80_uc011bhv.2_Missense_Mutation_p.P139S|CCDC80_uc003dzg.3_Missense_Mutation_p.P139S|CCDC80_uc003dzh.1_Missense_Mutation_p.P139S	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	139										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						AGGATGTTGGGAGAGCTGGAC	0.572000														127			8		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33855038	33855038	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:33855038G>A	uc001zhi.3	+	11	1043	c.973_splice	c.e11-1	p.E325_splice	RYR3_uc010bar.3_Splice_Site_p.E325_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	325	MIR 4.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TATGAATTAGGAACTCAAGGA	0.388000														31			12		0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97852431	97852431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:97852431G>A	uc003upg.3	-	20	3004	c.2799C>T	c.(2797-2799)gcC>gcT	p.A933A		NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	933						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGTCCCTGAGGGCGATGGGGG	0.667000														8			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082364	9082364	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9082364G>A	uc002mkp.3	-	0	9655	c.9451C>T	c.(9451-9453)Cct>Tct	p.P3151S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3152	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P3151P(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						GTCTTGGCAGGAACTGAAATA	0.443000														66			24		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926313	1926313	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1926313C>T	uc002qxe.3	-	9	2055	c.1228G>A	c.(1228-1230)Gac>Aac	p.D410N	MYT1L_uc002qxd.3_Missense_Mutation_p.D410N|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	410					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D410N(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTGGTATCGTCGTCCCGCTCA	0.582000														53			14		0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782025	107782025	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:107782025C>T	uc003ymm.4	-	0	448	c.394G>A	c.(394-396)Gag>Aag	p.E132K		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	132					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCATCCCTCTCGTACCTGTGG	0.542000														87			41		0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528284	20528284	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20528284C>T	uc001vwn.1	+	0	81	c.81C>T	c.(79-81)ttC>ttT	p.F27F		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F27L(2)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAATTTTCTTCTTTGTGACAT	0.383000														219			91		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168807887	168807887	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:168807887C>T	uc011bpj.1	-	14	3705	c.3302G>A	c.(3301-3303)gGa>gAa	p.G1101E	MECOM_uc010hwk.1_Missense_Mutation_p.G927E|MECOM_uc003ffj.3_Missense_Mutation_p.G978E|MECOM_uc003ffi.3_Missense_Mutation_p.G913E|MECOM_uc011bpi.1_Missense_Mutation_p.G905E|MECOM_uc003ffn.3_Missense_Mutation_p.G913E|MECOM_uc003ffk.2_Missense_Mutation_p.G904E|MECOM_uc003ffl.2_Missense_Mutation_p.G1064E|MECOM_uc011bpk.1_Missense_Mutation_p.G913E	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGTTCCTTTCCTGTTTTTCC	0.428000														149			64		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115409800	115409800	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115409800C>T	uc001lal.3	-	8	1048	c.884G>A	c.(883-885)gGc>gAc	p.G295D	NRAP_uc001laj.3_Missense_Mutation_p.G295D|NRAP_uc001lak.3_Missense_Mutation_p.G295D	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	295						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ACATACCTGGCCATATTGGTC	0.468000														184			33		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124401103	124401103	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124401103C>T	uc001uft.4	+	61	10493	c.10468C>T	c.(10468-10470)Cct>Tct	p.P3490S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3490	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATACATCGATCCTGTGATTGA	0.433000														73			14		0	0	1	0	0
SPINT4	391253	broad.mit.edu	37	20	44352646	44352646	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44352646C>T	uc002xpe.1	+	1	262	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_178455	NP_848550	Q6UDR6	SPIT4_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 4 (SPINT4), mRNA.	81	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				TTAACAACTTCAAGCTTAAAA	0.403000														118			24		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129096476	129096476	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:129096476C>T	uc011koy.2	+	8	1071	c.1031C>T	c.(1030-1032)tCt>tTt	p.S344F	FAM40B_uc003vow.3_Missense_Mutation_p.S344F|FAM40B_uc011koz.2_5'Flank	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	344										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGCCGTGGCTCTCGAAGGGTA	0.552000														27			14		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879555	3879555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:3879555C>T	uc002kmf.3	-	3	1041	c.514G>A	c.(514-516)Gag>Aag	p.E172K	DLGAP1_uc010wyz.2_Missense_Mutation_p.E172K|DLGAP1_uc002kmk.2_Missense_Mutation_p.E172K|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	172					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.E172K(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCCTGCGCCTCGTCAGGGCTG	0.711000														108			36		0	0	1	0	0
FYN	2534	broad.mit.edu	37	6	112021399	112021399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:112021399G>A	uc003pvj.3	-	7	1110	c.770C>T	c.(769-771)tCt>tTt	p.S257F	FYN_uc003pvi.3_Intron|FYN_uc003pvk.3_Missense_Mutation_p.S257F|FYN_uc003pvh.3_Intron|FYN_uc010kdy.1_Intron	NM_002037	NP_002028	P06241	FYN_HUMAN	Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA.	257					T cell costimulation|T cell receptor signaling pathway|axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GGTTTTGACAGACAGATCGGT	0.537000														74			30		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228481217	228481217	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228481217C>T	uc009xez.1	+	40	11075	c.11031C>T	c.(11029-11031)gcC>gcT	p.A3677A	OBSCN_uc001hsn.3_Silent_p.A3677A|OBSCN_uc001hsq.1_Silent_p.A933A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3677	Ig-like 37.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGACGGGGCCAGGTGTGAGC	0.647000														56			35		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057770	63057770	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63057770C>T	uc009yor.3	+	0	341	c.133C>T	c.(133-135)Cct>Tct	p.P45S	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_5'UTR	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	45						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCAGCCATTCCTGGTCATCG	0.443000														81			39		0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135382142	135382142	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:135382142C>T	uc003lbf.4	+	3	578	c.417C>T	c.(415-417)acC>acT	p.T139T	TGFBI_uc003lbg.4_5'UTR|TGFBI_uc003lbh.4_5'UTR|TGFBI_uc011cyb.2_5'UTR	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	139	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGCTTCACCATCTTCGCCC	0.622000														24			9		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105923959	105923959	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105923959G>A	uc001kxw.3	-	23	3255	c.3139C>T	c.(3139-3141)Cga>Tga	p.R1047*	WDR96_uc009xxq.3_Nonsense_Mutation_p.R355*	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1047								p.R1047*(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCTCGAATTCGAACATTTCTT	0.368000														31			12		0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3831551	3831551	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3831551C>T	uc002fwy.2	-	20	3224	c.3051G>A	c.(3049-3051)tgG>tgA	p.W1017*	ATP2A3_uc010ckn.2_Intron|ATP2A3_uc002fwz.2_Nonsense_Mutation_p.W1017*|ATP2A3_uc002fxa.2_Nonsense_Mutation_p.W1017*|ATP2A3_uc002fxb.2_Nonsense_Mutation_p.W1017*|ATP2A3_uc002fxc.2_Intron|ATP2A3_uc002fxd.2_Intron|ATP2A3_uc002fwx.2_Nonsense_Mutation_p.W1017*	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	1017					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGTCTGGGGTCCAAGAGGTGG	0.612000														32			16		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43045247	43045247	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43045247G>A	uc001zqo.2	-	13	2636	c.2197C>T	c.(2197-2199)Cag>Tag	p.Q733*	TTBK2_uc010bcy.2_Nonsense_Mutation_p.Q664*	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	733					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TGATCTATCTGAAGCCCCAAA	0.448000														204			18		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3654979	3654979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3654979C>T	uc002fwo.4	-	14	1957	c.1858G>A	c.(1858-1860)Gga>Aga	p.G620R		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	620					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TCCCAGTGTCCATTGTAGATA	0.597000														33			18		0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	49012254	49012254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49012254C>T	uc003cvb.3	+	9	1205	c.893C>T	c.(892-894)cCc>cTc	p.P298L	ARIH2_uc003cvc.3_Missense_Mutation_p.P298L|ARIH2_uc003cvf.3_Missense_Mutation_p.P216L|ARIH2_uc010hkl.3_Missense_Mutation_p.P298L	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	298					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P298P(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		CCTCAGTGTCCCAAGTGCAAC	0.498000														77			28		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10358346	10358346	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10358346C>T	uc002gmn.3	-	20	2458	c.2347G>A	c.(2347-2349)Gaa>Aaa	p.E783K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	783	Myosin head-like.				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						GCTAGCTTTTCATCTCGCATT	0.443000														44			28		0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173322869	173322869	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:173322869C>T	uc021xhm.1	+	0	801	c.481C>T	c.(481-483)Ccg>Tcg	p.P161S	NLGN1_uc003fio.1_Missense_Mutation_p.P161S|NLGN1_uc010hww.1_Missense_Mutation_p.P161S|NLGN1_uc003fip.1_Missense_Mutation_p.P161S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	161					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.P161T(2)|p.V160V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TATATATGTCCCGACTGAGGA	0.338000														127			8		0	0	1	0	0
CAMK2D	817	broad.mit.edu	37	4	114438809	114438809	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:114438809G>A	uc003ibi.3	-	8	1465	c.606C>T	c.(604-606)gtC>gtT	p.V202V	CAMK2D_uc003ibj.3_Silent_p.V202V|CAMK2D_uc003ibk.3_Silent_p.V202V|CAMK2D_uc003ibo.4_Silent_p.V202V|CAMK2D_uc003ibm.2_Silent_p.V202V|CAMK2D_uc003ibn.2_Silent_p.V202V|CAMK2D_uc003ibl.2_Silent_p.V202V	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II delta (CAMK2D), transcript variant 3, mRNA.	202	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TATAGAGAATGACACCTGGAG	0.373000														96			13		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196636412	196636412	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196636412G>A	uc002utj.4	-	60	11506	c.11405C>T	c.(11404-11406)tCg>tTg	p.S3802L	DNAH7_uc002uti.4_Missense_Mutation_p.S285L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3802					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTTACGCACGAATCTCTTAT	0.358000														156			40		0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33797043	33797043	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:33797043G>A	uc009vuh.1	-	11	2401	c.1912C>T	c.(1912-1914)Ccc>Tcc	p.P638S	PHC2_uc001bxg.1_Missense_Mutation_p.P637S|PHC2_uc001bxh.1_Missense_Mutation_p.P609S|PHC2_uc001bxe.1_Missense_Mutation_p.P102S|PHC2_uc001bxf.1_Missense_Mutation_p.P52S	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	637					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGTTTGAGGGGAGCACCCTCC	0.532000														119			57		0	0	1	0	0
FOXD4	2298	broad.mit.edu	37	9	116866	116866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116866C>T	uc003zfz.3	-	0	1552	c.1254G>A	c.(1252-1254)ggG>ggA	p.G418G		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	418					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA 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	p.E417D(1)		endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGTGAGGTCCCCTCTCCGC	0.697000														46			7		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136568062	136568062	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:136568062G>A	uc004cep.4	-	12	1778	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F	SARDH_uc004ceo.3_Silent_p.F548F|SARDH_uc011mdo.2_Silent_p.F380F|SARDH_uc011mdn.2_Silent_p.F548F|SARDH_uc004cen.3_5'UTR	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	548					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCGGGAAGGCGAAGGTGTACT	0.662000														14			4		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81675180	81675180	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81675180C>T	uc001szo.2	-	26	3229	c.3068G>A	c.(3067-3069)tGg>tAg	p.W1023*	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Nonsense_Mutation_p.W922*|PPFIA2_uc021rbh.1_Nonsense_Mutation_p.W918*|PPFIA2_uc021rbi.1_Nonsense_Mutation_p.W1017*|PPFIA2_uc021rbj.1_Nonsense_Mutation_p.W1002*|PPFIA2_uc021rbk.1_Nonsense_Mutation_p.W1008*|PPFIA2_uc021rbl.1_Nonsense_Mutation_p.W1023*|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Nonsense_Mutation_p.W559*|PPFIA2_uc021rbf.1_Nonsense_Mutation_p.W209*	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	922										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATTTCCAATCCACTCATGATT	0.388000														88			27		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233296028	233296028	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233296028C>T	uc001hvl.2	-	19	3752	c.3517_splice	c.e19+1	p.D1173_splice	PCNXL2_uc001hvm.1_Splice_Site|PCNXL2_uc009xfu.3_Splice_Site|PCNXL2_uc001hvp.1_Splice_Site|PCNXL2_uc009xfv.1_Splice_Site	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1173						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)				ATATTACTAACCTCTCACTTC	0.418000														29			14		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140532181	140532181	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140532181G>A	uc003lir.3	+	0	2343	c.2343G>A	c.(2341-2343)atG>atA	p.M781I		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	781					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGAGAAATGGAAGAAACCC	0.433000														85			9		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226733	158226733	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158226733C>T	uc001frt.3	+	3	1295	c.762C>T	c.(760-762)ccC>ccT	p.P254P	CD1A_uc021pbk.1_Non-coding_Transcript	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	254	Ig-like.				antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACATCTTGCCCAGTGCTGATG	0.622000														109			23		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791225	95791225	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95791225C>T	uc001kjk.3	+	1	1056	c.422C>T	c.(421-423)cCt>cTt	p.P141L	PLCE1_uc010qnx.2_Missense_Mutation_p.P141L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	141					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACTGGAATTCCTTCTCCACTG	0.413000														75			32		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49445109	49445109	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49445109G>A	uc001rta.4	-	9	2357	c.2357C>T	c.(2356-2358)cCa>cTa	p.P786L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	786	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGACAAGTGTGGCTCCTCAGG	0.657000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				32			17		0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53515147	53515147	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53515147G>A	uc001sbv.3	+	11	1286	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N	SOAT2_uc009zms.3_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	400					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						GGTGGTCCATGACTGGCTGTA	0.567000														72			7		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53227586	53227586	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53227586G>A	uc001sbb.3	-	0	492	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	153	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGAAGGAGGCGAACTTGTTGT	0.607000														185			68		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70007780	70007780	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70007780C>T	uc001opj.3	+	17	2138	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Silent_p.F553F|ANO1_uc010rqk.2_Silent_p.F320F	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	611					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TCAAGGCTTTCCTGCTGAAGT	0.537000														142			25		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841957	5841957	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5841957C>T	uc010qzp.2	+	0	392	c.392C>T	c.(391-393)cCc>cTc	p.P131L	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTGCTACCCCTTACGCTAT	0.552000														87			21		0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12918988	12918988	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12918988G>A	uc001aum.1	+	1	211	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	42										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCTTCAGGGAGGCCTTCAG	0.597000														213			43		0	0	1	0	0
HDHD1	8226	broad.mit.edu	37	X	7023738	7023738	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:7023738G>A	uc004crv.2	-	1	280	c.203C>T	c.(202-204)cCg>cTg	p.P68L	HDHD1_uc011mhm.1_Missense_Mutation_p.P91L|HDHD1_uc011mhn.1_Intron|HDHD1_uc010ndl.2_Missense_Mutation_p.P68L|HDHD1_uc011mho.1_Missense_Mutation_p.P68L	NM_012080	NP_036212	Q08623	HDHD1_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 1 (HDHD1), transcript variant 2, mRNA.	68					nucleotide metabolic process		metal ion binding|phosphatase activity			breast(2)|large_intestine(1)|lung(3)	6						TTTGGACATCGGGAGCTGCAA	0.502000														13			4		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133196570	133196570	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133196570C>T	uc003ytj.3	-	2	747	c.522G>A	c.(520-522)agG>agA	p.R174R	KCNQ3_uc003yti.3_Silent_p.R54R|KCNQ3_uc010mdt.3_Silent_p.R174R	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	174					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAGCCCAGATCCTCAAAGCAA	0.532000														94			38		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85432029	85432029	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:85432029A>C	uc001tac.3	+	1	186	c.75A>C	c.(73-75)gaA>gaC	p.E25D	TSPAN19_uc009zsj.3_5'Flank|LRRIQ1_uc001taa.1_Missense_Mutation_p.E25D|LRRIQ1_uc001tad.3_5'Flank	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	25										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCTCCTTGGAAAAAGAAGACA	0.373000														97			11		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91770166	91770166	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:91770166C>T	uc010aty.3	-	19	3668	c.3514G>A	c.(3514-3516)Gag>Aag	p.E1172K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1172					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCCAGGTGCTCGTGGTCCTGC	0.632000														35			14		0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202490	248202490	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248202490C>T	uc001idw.3	+	0	1017	c.921C>T	c.(919-921)atC>atT	p.I307I	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTCAGAAAATCTTCTCAGTGA	0.423000														100			20		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407248	38407248	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38407248G>A	uc003jlc.2	+	8	1493	c.1147_splice	c.e8+1	p.D383_splice	EGFLAM_uc003jlb.2_Splice_Site_p.D383_splice|EGFLAM_uc003jle.2_Splice_Site_p.D149_splice|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	383						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGCTCAGAAGGTAGGCCCTT	0.547000														30			12		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324651	79324651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:79324651C>T	uc010mpk.3	-	7	2663	c.2539G>A	c.(2539-2541)Gaa>Aaa	p.E847K	PRUNE2_uc022bih.1_Missense_Mutation_p.E669K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	847					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCAGTAGTTCTGAAGAAGAA	0.463000														28			11		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90139396	90139396	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:90139396C>T	uc010yts.2	+	30		c.3454C>T								Parts of antibodies, mostly variable regions.																		AGCTGGTTAGCCTGGTATCAG	0.527000														164			55		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431686	135431686	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:135431686C>T	uc004ezu.1	+	5	6112	c.5821C>T	c.(5821-5823)Cct>Tct	p.P1941S	GPR112_uc010nsb.1_Missense_Mutation_p.P1736S|GPR112_uc010nsc.1_Missense_Mutation_p.P1708S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1941					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTCATCAATTCCTATGTCAGG	0.433000														38			37		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156646890	156646890	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156646890G>A	uc001fpq.3	-	0	300	c.167C>T	c.(166-168)gCc>gTc	p.A56V		NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	56	Coil 1B.|Rod.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCGTCGTCGGCATGCGCCCG	0.721000														15			8		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35406833	35406833	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:35406833C>T	uc003xjr.2	+	1	455	c.127C>T	c.(127-129)Ccc>Tcc	p.P43S	UNC5D_uc003xjs.2_Missense_Mutation_p.P38S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	43					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CGAAGCCCTTCCCGAATCCAT	0.468000														68			6		0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6442295	6442295	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6442295G>A	uc001qnu.3	-	4	794	c.491C>T	c.(490-492)aCc>aTc	p.T164I	TNFRSF1A_uc001qnt.3_Missense_Mutation_p.T56I|TNFRSF1A_uc010sey.2_5'UTR|TNFRSF1A_uc010sez.2_Missense_Mutation_p.T56I|TNFRSF1A_uc009zek.3_Missense_Mutation_p.T121I|TNFRSF1A_uc010sfa.2_Missense_Mutation_p.T164I	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	164					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GGTGCACACGGTGTTCTGTTT	0.557000														32			9		0	0	1	0	0
C11orf9	745	broad.mit.edu	37	11	61533565	61533565	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:61533565C>T	uc001nsc.1	+	2	366	c.270C>T	c.(268-270)ctC>ctT	p.L90L	C11orf9_uc001nse.1_Silent_p.L81L	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	90	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						ATGGTCCCCTCCCACCCCCGG	0.736000														26			12		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78969134	78969134	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:78969134G>A	uc004akc.2	+	36	5711	c.5173_splice	c.e36+1	p.D1725_splice		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	790					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGGACACCACGGGTGAGGGAA	0.597000														5			4		0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92702991	92702991	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92702991C>T	uc001pdk.1	+	0	203	c.100C>T	c.(100-102)Cct>Tct	p.P34S		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	34					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CTCCAGGACCCCTCGACCTCC	0.716000														7			4		0	0	1	0	0
SH3GL1	6455	broad.mit.edu	37	19	4365544	4365544	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4365544G>A	uc002maj.3	-	3	466	c.266C>T	c.(265-267)tCg>tTg	p.S89L	SH3GL1_uc002mak.3_Intron|SH3GL1_uc010xig.2_Intron	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	Homo sapiens SH3-domain GRB2-like 1 (SH3GL1), transcript variant 1, mRNA.	89	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		AAGCCCCTCCGACTGCGGGTA	0.652000			T	MLL	AL									99			37		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41710035	41710035	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41710035G>A	uc002yyq.1	-	7	2228	c.1776C>T	c.(1774-1776)acC>acT	p.T592T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	592	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TACCTTTCACGGTCACGTGGA	0.507000														101			46		0	0	1	0	0
PARVA	55742	broad.mit.edu	37	11	12539227	12539227	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:12539227T>C	uc001mki.3	+	10	1107	c.938T>C	c.(937-939)tTc>tCc	p.F313S		NM_018222	NP_060692	Q9NVD7	PARVA_HUMAN	Homo sapiens parvin, alpha (PARVA), mRNA.	313	CH 2.				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		CTGCACAGCTTCTTCCTGACC	0.597000														13			3		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55961752	55961753	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:55961752_55961753GG>AA	uc003has.3	-	19	3110_3111	c.2808_2809CC>TT	c.(2806-2811)gtcccc>gtTTcc	p.P937S	KDR_uc003hat.1_Missense_Mutation_p.P937S	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	937	Protein kinase.				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.P937H(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)	ACCTTGTAGGGGACAAATTCAT	0.421000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				59			22		0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159802914	159802914	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159802914C>T	uc001fue.4	+	2	826	c.616C>T	c.(616-618)Cct>Tct	p.P206S		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	206	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TGTCTCCAACCCTGTCAGCTG	0.557000														81			31		0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108363052	108363052	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108363052C>T	uc003dxd.3	+	13	1605	c.1183C>T	c.(1183-1185)Cat>Tat	p.H395Y	DZIP3_uc003dxf.1_Missense_Mutation_p.H395Y|DZIP3_uc011bhm.2_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.H395Y|DZIP3_uc003dxg.1_Missense_Mutation_p.H118Y	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	395					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTATTTCTATCATCTGCTTCA	0.303000														67			24		0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16504332	16504332	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:16504332C>T	uc003goz.3	-	7	1372	c.1056G>A	c.(1054-1056)tgG>tgA	p.W352*	LDB2_uc003gpa.3_3'UTR|LDB2_uc011bxh.2_Nonsense_Mutation_p.W324*|LDB2_uc003gpb.3_Nonsense_Mutation_p.W350*|LDB2_uc010iee.3_3'UTR|LDB2_uc011bxi.2_3'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	352							LIM domain binding|transcription cofactor activity	p.P351P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GTTTACTGTTCCACGGGCTGT	0.522000														160			56		0	0	1	0	0
ICOSLG	23308	broad.mit.edu	37	21	45656834	45656834	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45656834C>T	uc010gpp.1	-	2	456	c.322G>A	c.(322-324)Gag>Aag	p.E108K	ICOSLG_uc002zef.3_Intron|ICOSLG_uc002zee.3_Missense_Mutation_p.E108K|ICOSLG_uc011afc.2_Missense_Mutation_p.E18K	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	108	Ig-like V-type.				B cell activation|T cell activation|T cell costimulation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		AACTTCTGCTCGTCCTGGGGG	0.602000														98			7		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82785568	82785568	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82785568G>A	uc003uhx.2	-	1	678	c.389C>T	c.(388-390)cCt>cTt	p.P130L	PCLO_uc003uhv.2_Missense_Mutation_p.P130L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	130					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						AATAGTGGAAGGACTCCTCCC	0.478000														82			27		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247463	164247463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:164247463G>A	uc003iqm.2	-	1	709	c.244C>T	c.(244-246)Ctt>Ttt	p.L82F	NPY1R_uc021xtv.1_Missense_Mutation_p.L82F|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	82					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGAAGGAAAGGTTCACAATC	0.423000														67			22		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42695454	42695454	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42695454G>A	uc010ggo.3	+	7	1481	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N	TOX2_uc002xle.4_Missense_Mutation_p.D439N|TOX2_uc010ggp.3_Missense_Mutation_p.D439N|TOX2_uc002xlf.4_Missense_Mutation_p.D463N|TOX2_uc010zwk.2_Missense_Mutation_p.D359N	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CGGGGACTGGGACAGCAGCTA	0.637000														121			43		0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154960885	154960885	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154960885C>T	uc001fgf.2	+	1	1078	c.677C>T	c.(676-678)tCt>tTt	p.S226F	FLAD1_uc001fgc.3_Missense_Mutation_p.S127F|FLAD1_uc001fgd.2_Missense_Mutation_p.S226F|FLAD1_uc001fge.2_Missense_Mutation_p.S129F|FLAD1_uc001fgg.2_Missense_Mutation_p.S129F|FLAD1_uc021paj.1_Missense_Mutation_p.S127F|FLAD1_uc001fgh.1_5'UTR	NM_025207	NP_958800	Q8NFF5	FAD1_HUMAN	Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA.	226					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTGCCCTCCTCTGCCCGCCTG	0.567000														54			29		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124095709	124095709	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124095709C>T	uc010saf.2	+	0	312	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	104						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGAAGAACATCATCTCCTACC	0.433000														147			44		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199156	118199156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:118199156G>A	uc001two.2	-	3	614	c.559C>T	c.(559-561)Ccc>Tcc	p.P187S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	216	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGCCCCGGGAGTGGGGCTG	0.706000														22			12		0	0	1	0	0
FAM159A	348378	broad.mit.edu	37	1	53122628	53122628	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:53122628G>A	uc001cuf.3	+	2	589	c.489G>A	c.(487-489)atG>atA	p.M163I	FAM159A_uc001cug.1_Intron|FAM159A_uc001cuh.3_Intron	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	Homo sapiens family with sequence similarity 159, member A (FAM159A), mRNA.	163						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						ATTGCTTCATGGCCACAGTGA	0.542000														256			22		0	0	1	0	0
LRPAP1	4043	broad.mit.edu	37	4	3516553	3516553	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:3516553C>T	uc003ghh.4	-	6	1022	c.937G>A	c.(937-939)Gac>Aac	p.D313N		NM_002337	NP_002328	P30533	AMRP_HUMAN	Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.	313	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CGCTCGCCGTCGCCCACGCTC	0.647000														86			19		0	0	1	0	0
TIAL1	7073	broad.mit.edu	37	10	121336989	121336989	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:121336989G>A	uc001lei.1	-	8	1275	c.711C>T	c.(709-711)ttC>ttT	p.F237F	TIAL1_uc001leh.1_Silent_p.F215F|TIAL1_uc001lej.1_Silent_p.F254F|TIAL1_uc001lek.1_Silent_p.F114F|TIAL1_uc010qtb.1_Silent_p.F114F	NM_003252	NP_003243	Q01085	TIAR_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein-like 1 (TIAL1), transcript variant 1, mRNA.	237	RRM 3.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CCTTTTCTGGGAAAACTCTTA	0.318000														48			28		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35831879	35831879	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35831879C>T	uc010edt.3	+	6	1429	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	CD22_uc010edu.3_Missense_Mutation_p.P361S|CD22_uc010edv.3_Missense_Mutation_p.P449S|CD22_uc002nzb.4_Missense_Mutation_p.P272S|CD22_uc010xst.2_Missense_Mutation_p.P277S|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	449	Ig-like C2-type 4.				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)	TTCCAGTAACCCCAGTGTTAC	0.522000														53			19		0	0	1	0	0
SLC17A7	57030	broad.mit.edu	37	19	49939943	49939943	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49939943G>A	uc002pnp.3	-	1	350	c.178C>T	c.(178-180)Cct>Tct	p.P60S	SLC17A7_uc002pnq.1_5'UTR	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	60					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TAGCGGCGAGGGAGGCCGAAG	0.647000														101			42		0	0	1	0	0
FOXRED1	55572	broad.mit.edu	37	11	126143291	126143291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:126143291C>T	uc001qdi.3	+	3	645	c.478C>T	c.(478-480)Ctc>Ttc	p.L160F	FOXRED1_uc010sbn.2_5'UTR|FOXRED1_uc010sbq.2_Missense_Mutation_p.P28L|FOXRED1_uc010sbo.2_Non-coding_Transcript|FOXRED1_uc010sbp.2_5'UTR|FOXRED1_uc010sbr.2_Missense_Mutation_p.L146F|FOXRED1_uc001qdk.3_5'UTR	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	160						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CTCGGGCTACCTCTTGCTGGC	0.567000														129			8		0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104125001	104125001	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104125001G>A	uc010mtd.3	-	3	1075	c.966C>T	c.(964-966)ttC>ttT	p.F322F	BAAT_uc004bbd.4_Silent_p.F322F	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	322					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CTCCTACAATGAAGAGGAATT	0.468000														94			32		0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583638	145583638	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145583638C>T	uc003zcc.2	+	2	650	c.486C>T	c.(484-486)gcC>gcT	p.A162A	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Silent_p.A162A|SLC52A2_uc010mfy.2_Silent_p.A162A|SLC52A2_uc011llc.2_Silent_p.A74A|SLC52A2_uc003zcd.2_Silent_p.A162A	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	162						integral to plasma membrane	receptor activity|riboflavin transporter activity										GCGTGCTGGCCCTAGTGCAGG	0.652000														112			47		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41554252	41554252	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:41554252T>G	uc003xok.3	-	24	2761	c.2677A>C	c.(2677-2679)Agc>Cgc	p.S893R	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.S209R|ANK1_uc003xoi.3_Missense_Mutation_p.S893R|ANK1_uc003xoj.3_Missense_Mutation_p.S893R|ANK1_uc003xol.3_Missense_Mutation_p.S893R|ANK1_uc003xom.3_Missense_Mutation_p.S934R	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	893					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTGGCCGGGCTGCTGGGGATG	0.647000														27			15		0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43285837	43285837	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:43285837C>T	uc001jaj.3	+	4	872	c.514C>T	c.(514-516)Caa>Taa	p.Q172*		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	172					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAACATCTGTCAAGTACATGG	0.378000														136			40		0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121350818	121350818	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121350818C>T	uc003eeh.4	-	13	1461	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	HCLS1_uc011bjj.2_Missense_Mutation_p.E409K	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	446	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		AAGGAAAGCTCATCACTTCCC	0.517000														132			48		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575102	136575102	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136575102C>T	uc002tuu.1	-	5	1527	c.1516G>A	c.(1516-1518)Gat>Aat	p.D506N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	506	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCACCATGATCCTGCAGGGCC	0.587000														44			23		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65789247	65789247	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65789247C>T	uc001ogt.3	-	2	1671	c.1533G>A	c.(1531-1533)tgG>tgA	p.W511*		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	511					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCAAATTGTTCCAGAAGTCAA	0.592000														82			14		0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53266970	53266970	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:53266970G>A	uc002xwy.3	+	7	1093	c.873G>A	c.(871-873)ctG>ctA	p.L291L		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	291							insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CCAGCCCTCTGAAGCTTCATC	0.393000														44			22		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38843566	38843566	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38843566C>T	uc021yzh.1	+	52	7929	c.7820C>T	c.(7819-7821)tCa>tTa	p.S2607L	DNAH8_uc003ooe.2_Missense_Mutation_p.S2390L	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.F2607fs*22(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTAAAGGCTCAAATCAAACC	0.358000														56			20		0	0	1	0	0
ACR	49	broad.mit.edu	37	22	51177731	51177731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:51177731C>T	uc003bnh.4	+	1	122	c.110C>T	c.(109-111)cCa>cTa	p.P37L	BC050343_uc003bng.3_5'Flank|ACR_uc010hbh.1_Missense_Mutation_p.P37L	NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	37					acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		AGGCAAAACCCACAGGGTGGT	0.597000														17			4		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885216	88885216	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:88885216G>A	uc003ydz.3	-	0	1081	c.984C>T	c.(982-984)gtC>gtT	p.V328V		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	328								p.G327E(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CGGCCGCCACGACTCCTTCTT	0.572000														57			20		0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35824855	35824855	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:35824855C>T	uc001byt.3	+	2	495	c.415C>T	c.(415-417)Cct>Tct	p.P139S	ZMYM4_uc009vuu.3_Missense_Mutation_p.P107S|ZMYM4_uc001byu.3_Intron|ZMYM4_uc009vuv.3_5'UTR	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	139					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAAGACTTTCCTAAACAATT	0.308000														40			11		0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55539335	55539335	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:55539335C>T	uc002ehz.4	+	12	2275	c.1964C>T	c.(1963-1965)tCc>tTc	p.S655F	MMP2_uc010vhd.2_Missense_Mutation_p.S579F|MMP2_uc010ccc.3_Missense_Mutation_p.S605F	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	655	Hemopexin-like 4.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AGCATCAAATCCGACTGGCTA	0.552000														89			57		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086197	92086197	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92086197G>A	uc001pdj.4	+	0	936	c.919G>A	c.(919-921)Gat>Aat	p.D307N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	307	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTGGCTGGGGATCCTTTAGA	0.448000										TCGA Ovarian(4;0.039)				37			14		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592977	38592977	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38592977C>T	uc021wvo.1	-	26	4938	c.4886G>A	c.(4885-4887)cGa>cAa	p.R1629Q	SCN5A_uc021wvk.1_Missense_Mutation_p.R1596Q|SCN5A_uc021wvl.1_Missense_Mutation_p.R1575Q|SCN5A_uc021wvm.1_Missense_Mutation_p.R1611Q|SCN5A_uc021wvn.1_Missense_Mutation_p.R1628Q|SCN5A_uc021wvp.1_Missense_Mutation_p.R1629Q|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.R1441Q|SCN5A_uc021wvi.1_Missense_Mutation_p.R1495Q	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1629					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCGGCCTATTCGGGCCAGGCG	0.592000														94			42		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1047173	1047173	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:1047173C>T	uc002lqw.4	+	14	2094	c.1863C>T	c.(1861-1863)ccC>ccT	p.P621P	ABCA7_uc010dsb.1_Silent_p.P483P	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	621					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		ACATCCTCCCCTACAGCCACC	0.677000														14			5		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220337666	220337666	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220337666G>A	uc010fwg.3	+	15	3995	c.3995G>A	c.(3994-3996)tGg>tAg	p.W1332*		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1332	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCGGACCAGTGGACGGCACTG	0.647000														49			20		0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45265663	45265663	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:45265663C>T	uc001myq.2	-	5	1347	c.1221G>A	c.(1219-1221)tgG>tgA	p.W407*	SYT13_uc009yku.1_Nonsense_Mutation_p.W263*	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	407						transport vesicle		p.W407L(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GCATCTCCTCCCAGTGGCTGC	0.642000														49			6		0	0	1	0	0
PPCS	79717	broad.mit.edu	37	1	42925368	42925368	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:42925368C>T	uc001chl.3	+	2	771	c.707C>T	c.(706-708)cCc>cTc	p.P236L	PPCS_uc001chk.3_Missense_Mutation_p.P63L	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN	Homo sapiens phosphopantothenoylcysteine synthetase (PPCS), transcript variant 1, mRNA.	236					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	p.P236P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGACTGACCCCGCCATTGTA	0.403000														116			35		0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810761	65810761	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65810761G>A	uc001ogv.3	-	1	673	c.513C>T	c.(511-513)gcC>gcT	p.A171A	GAL3ST3_uc001ogw.3_Silent_p.A171A	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	171					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						CGCGCCGGAAGGCCGGGCAGT	0.662000														25			6		0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109377600	109377600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:109377600C>T	uc001dwa.3	-	7	1884	c.1615G>A	c.(1615-1617)Ggg>Agg	p.G539R	AKNAD1_uc010ovb.2_Missense_Mutation_p.G246R|AKNAD1_uc001dwb.3_Intron	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	539										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCTGCGGCCCTCCTTGGGGT	0.657000														68			27		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7561562	7561562	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:7561562C>T	uc003src.1	-	4	850	c.733G>A	c.(733-735)Gga>Aga	p.G245R	COL28A1_uc011jxe.1_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	245	Collagen-like 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTGGATCTCCCTTCTCACAT	0.378000														58			18		0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24811049	24811049	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24811049C>T	uc003xee.3	-	3	1531	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	477	Tail, subdomain B (acidic).|Tail.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		tcctcctcctcGGCTTCTCCT	0.532000														17			6		0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	129986368	129986368	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:129986368C>T	uc010lmd.1	+	3	662	c.42C>T	c.(40-42)tcC>tcT	p.S14S	CPA5_uc003vps.2_Silent_p.S14S|CPA5_uc003vpt.2_Silent_p.S14S|CPA5_uc010lme.1_Silent_p.S14S|CPA5_uc003vpu.1_Silent_p.S14S	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	14					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CTGGGCCATCCCCCGTGGACA	0.632000														88			25		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167815251	167815251	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167815251G>A	uc001ger.3	-	19	2986	c.2688C>T	c.(2686-2688)tcC>tcT	p.S896S	ADCY10_uc010plj.2_Silent_p.S743S|ADCY10_uc009wvk.3_Silent_p.S804S|ADCY10_uc009wvl.3_Silent_p.S895S	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	896					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCAGAGACAAGGAACGATAGT	0.453000														99			11		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7110510	7110510	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7110510C>T	uc001mfc.2	+	0	346	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	53	RRM.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTTCGCGTTCGTCACCTTTG	0.592000														19			6		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136294	40136294	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:40136294G>A	uc021qgf.1	-	0	1549	c.1549C>T	c.(1549-1551)Cca>Tca	p.P517S	LRRC4C_uc001mxc.1_Missense_Mutation_p.P513S|LRRC4C_uc001mxd.1_Missense_Mutation_p.P513S|LRRC4C_uc001mxa.1_Missense_Mutation_p.P517S|LRRC4C_uc001mxb.1_Missense_Mutation_p.P513S	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	517					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCAATTCCTGGGATCCCACTG	0.473000														32			24		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232651033	232651033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:232651033G>A	uc001hvg.3	-	0	211	c.53C>T	c.(52-54)tCt>tTt	p.S18F		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	18					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAACTTTGAAGAGGCTCTGCC	0.453000														66			8		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276647	152276647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152276647C>T	uc001ezu.1	-	2	10751	c.10715G>A	c.(10714-10716)aGa>aAa	p.R3572K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3572	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCCATCTCTTGACTGCTC	0.557000									Ichthyosis					455			33		0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56236591	56236591	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56236591C>T	uc001sib.3	-	0	145	c.24G>A	c.(22-24)ctG>ctA	p.L8L	MMP19_uc001sia.3_5'Flank|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Silent_p.L8L	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	8					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						GTAGGAAGCCCAGCCACAGCT	0.637000														10			3		0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96213026	96213026	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:96213026C>T	uc004efu.4	+	15	2210	c.1814C>T	c.(1813-1815)cCa>cTa	p.P605L	DIAPH2_uc004eft.4_Missense_Mutation_p.P605L	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	605	FH1.|Poly-Pro.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	Golgi apparatus|cytosol|early endosome|mitochondrion|nucleolus	Rho GTPase binding|receptor binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GGACCTCCTCCACCACCACCC	0.517000														16			21		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81648080	81648080	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:81648080C>T	uc021ssk.1	-	8	921	c.921G>A	c.(919-921)aaG>aaA	p.K307K	TMC3_uc021ssj.1_Silent_p.K307K|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Silent_p.K307K	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	307						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTTTGCTTTTCTTTTTCTCCT	0.269000														63			13		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76417042	76417042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:76417042C>T	uc021rkq.1	+	24	4422	c.4087C>T	c.(4087-4089)Cct>Tct	p.P1363S	LMO7_uc010thv.2_Missense_Mutation_p.P1081S|LMO7_uc001vjt.1_Missense_Mutation_p.P1029S|LMO7_uc001vjv.3_Missense_Mutation_p.P1130S|LMO7_uc010thw.2_Missense_Mutation_p.P1007S|LMO7_uc001vjw.1_Missense_Mutation_p.P1036S	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1415						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGGTTTTCTTCCTGGTGACAG	0.328000														85			35		0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223154	44223154	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44223154C>T	uc002oxh.3	+	1	591	c.444C>T	c.(442-444)gtC>gtT	p.V148V	IRGC_uc021uvh.1_Silent_p.V148V	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	148						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GCGGGGCCGTCGAGACCCGCC	0.662000														17			4		0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58118530	58118530	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58118530C>T	uc002qpk.2	+	2	1857	c.1637C>T	c.(1636-1638)cCt>cTt	p.P546L	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_Intron	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAGAAAGGCCTTATGAGTGC	0.448000														136			11		0	0	1	0	0
OLFML3	56944	broad.mit.edu	37	1	114523091	114523091	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:114523091C>T	uc001eer.1	+	1	361	c.252C>T	c.(250-252)tcC>tcT	p.S84S	OLFML3_uc001ees.1_Silent_p.S64S|OLFML3_uc001eet.1_5'UTR	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	Homo sapiens olfactomedin-like 3 (OLFML3), mRNA.	84					multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACACCATCTCCGGGAGAGTGG	0.587000														79			14		0	0	1	0	0
TTLL13	440307	broad.mit.edu	37	15	90793899	90793899	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90793899G>A	uc002bpd.1	+	1	325	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	TTLL13_uc002bpe.1_Non-coding_Transcript	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	13					protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GGAATCAGAGGAAGACTATGT	0.473000														48			32		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30992021	30992021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:30992021G>A	uc010xbr.1	-	1	174	c.32C>T	c.(31-33)tCc>tTc	p.S11F	C18orf34_uc002kxn.2_Missense_Mutation_p.S11F|C18orf34_uc010dmf.1_Missense_Mutation_p.S11F|C18orf34_uc002kxo.2_Missense_Mutation_p.S11F|C18orf34_uc002kxp.3_Missense_Mutation_p.S11F	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	11										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						ATCTCTAGTGGAAGAAGAGGA	0.254000														48			15		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141607771	141607771	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141607771G>A	uc002tvj.1	-	28	5811	c.4839C>T	c.(4837-4839)ttC>ttT	p.F1613F	LRP1B_uc010fnl.1_Silent_p.F795F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1613					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D1612D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGATGCATCGAAGTCTATCA	0.373000										TSP Lung(27;0.18)				79			31		0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64873549	64873549	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:64873549G>A	uc010wqi.2	+	1	336	c.99G>A	c.(97-99)tgG>tgA	p.W33*	CACNG5_uc010wqj.2_Nonsense_Mutation_p.W33*	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	33					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCGACTACTGGCTGTACCTGG	0.607000														72			17		0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110988108	110988108	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:110988108C>T	uc011msy.2	+	23	3009	c.2908C>T	c.(2908-2910)Cca>Tca	p.P970S	ALG13_uc011msx.2_Intron|ALG13_uc011msz.2_Missense_Mutation_p.P892S|ALG13_uc011mta.2_Intron|ALG13_uc011mtb.2_Intron	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	970	Pro-rich.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						TTCCTGTGATCCAAGCGGCAG	0.463000														8			6		0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406808	75406808	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:75406808G>A	uc001jut.4	-	3	2754	c.2602C>T	c.(2602-2604)Ccc>Tcc	p.P868S	SYNPO2L_uc001jus.4_Missense_Mutation_p.P644S	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	868	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGAGTCGGGGGAACCTCATCA	0.582000														134			50		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167293777	167293777	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:167293777C>T	uc003fev.1	-	3	719	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	WDR49_uc003feu.1_5'Flank|WDR49_uc011bpd.1_Missense_Mutation_p.E192K|WDR49_uc003few.1_Missense_Mutation_p.E480K	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	139										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTGCTGGCTTCACTTTTCATT	0.408000														158			69		0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490215	150490215	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150490215C>T	uc022apx.1	-	3	687	c.561G>A	c.(559-561)tgG>tgA	p.W187*	TMEM176B_uc003whu.4_Nonsense_Mutation_p.W187*|TMEM176B_uc003whv.4_Nonsense_Mutation_p.W150*|TMEM176B_uc003whw.4_Nonsense_Mutation_p.W187*	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	187					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCTTCTGCCATTGGTTCT	0.527000														92			15		0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95403849	95403849	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:95403849G>A	uc003ygk.3	-	9	1928	c.1797C>T	c.(1795-1797)ttC>ttT	p.F599F	RAD54B_uc010may.2_Silent_p.F415F|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTATAGAGTTGAACAAAAGGC	0.408000								Direct reversal of damage;Homologous recombination						136			58		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189910578	189910578	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189910578C>T	uc002uqk.3	-	45	3532	c.3257G>A	c.(3256-3258)gGa>gAa	p.G1086E	COL5A2_uc010frx.3_Missense_Mutation_p.G662E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1086					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.G1086E(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GCCAGGAGTTCCAGGGGCACC	0.498000														84			34		0	0	1	0	0
ATG3	64422	broad.mit.edu	37	3	112251591	112251591	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:112251591G>A	uc003dzd.3	-	11	1010	c.900C>T	c.(898-900)gtC>gtT	p.V300V	ATG3_uc003dzc.3_3'UTR	NM_022488	NP_071933	Q9NT62	ATG3_HUMAN	Homo sapiens ATG3 autophagy related 3 homolog (S. cerevisiae) (ATG3), mRNA.	300					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						TTGTTGGAATGACAGCTTGTA	0.284000														56			32		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101797320	101797320	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:101797320C>T	uc004azb.1	+	17	2310	c.2104C>T	c.(2104-2106)Cct>Tct	p.P702S		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	702	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAGAGGCTTACCTGGACCCCC	0.612000														77			14		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140740765	140740765	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140740765C>T	uc003ljs.2	+	0	1063	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.P355S	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	358	Cadherin 4.				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)			AGTATCTACTCCCCTACCGGA	0.458000														60			21		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90079864	90079864	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:90079864G>A	uc003kju.3	+	66	13739	c.13643G>A	c.(13642-13644)gGa>gAa	p.G4548E	GPR98_uc003kjt.3_Missense_Mutation_p.G2254E|GPR98_uc003kjw.3_Missense_Mutation_p.G209E	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4548					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGACTCTTGGGAGAGATTCAG	0.363000														10			6		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122774533	122774533	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:122774533G>A	uc003vkm.3	-	7	888	c.863C>T	c.(862-864)tCc>tTc	p.S288F	SLC13A1_uc010lks.3_Missense_Mutation_p.S164F	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	288						integral to membrane|plasma membrane	sodium:sulfate symporter activity	p.F287L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AGCTGGGAAGGAAAACGTAAA	0.433000														58			21		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56954855	56954855	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56954855C>T	uc001njl.2	+	1	1074	c.927C>T	c.(925-927)ttC>ttT	p.F309F		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	279	Poly-Glu.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TCGTGGGCTTCGTGGTCTCCA	0.582000														68			20		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74607058	74607058	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:74607058A>G	uc002lmi.3	+	9	1699	c.1501A>G	c.(1501-1503)Atc>Gtc	p.I501V	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	501					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGTCCGCCACATCCGCATCCA	0.647000														130			44		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497196	149497196	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149497196G>A	uc003lro.3	-	21	3591	c.3122C>T	c.(3121-3123)tCc>tTc	p.S1041F	PDGFRB_uc010jhd.3_Missense_Mutation_p.S880F	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	1041					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAGGCTGGGGGAACCCTCCAG	0.612000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									55			18		0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172025193	172025193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:172025193G>A	uc003fhy.3	+	9	1274	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	FNDC3B_uc003fhz.4_Missense_Mutation_p.E368K|FNDC3B_uc003fia.3_Missense_Mutation_p.E299K	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	368	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ATCCTGCTCCGAGCCTGTTAG	0.502000														89			30		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81666408	81666408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:81666408G>A	uc021ssk.1	-	0	11	c.11C>T	c.(10-12)tCg>tTg	p.S4L	TMC3_uc021ssj.1_Missense_Mutation_p.S4L|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.S4L	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	4						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGATGCCTTCGAGGTTTTCAT	0.537000														32			7		0	0	1	0	0
TFAP2A	7020	broad.mit.edu	37	6	10410431	10410431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:10410431G>A	uc003myr.3	-	1	435	c.183C>T	c.(181-183)ccC>ccT	p.P61P	TFAP2A_uc003myq.3_Silent_p.P55P|TFAP2A_uc003mys.3_Intron|TFAP2A_uc011dih.2_Silent_p.P61P|TFAP2A_uc003myt.3_Silent_p.P57P|TFAP2A_uc003myu.1_Silent_p.P61P|TFAP2A_uc011dii.1_Silent_p.P57P|LOC100130275_uc003myw.3_5'Flank	NM_003220	NP_003211	P05549	AP2A_HUMAN	Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA.	61	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Golgi apparatus|centrosome|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TAGGCTGGTAGGGTGGGGGGA	0.657000														39			15		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31901450	31901450	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31901450A>T	uc011dor.2	+	2	584	c.320A>T	c.(319-321)cAt>cTt	p.H107L	CFB_uc003nyc.2_Missense_Mutation_p.M1L|CFB_uc011doo.2_Missense_Mutation_p.M1L|CFB_uc011dop.2_Missense_Mutation_p.H46L|CFB_uc003nye.4_Missense_Mutation_p.H169L|CFB_uc003nyf.3_Missense_Mutation_p.H169L|CFB_uc010jtk.3_Missense_Mutation_p.H37L|CFB_uc011doq.2_Missense_Mutation_p.H140L	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	183	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CGCTTTGGTCATGGGGACAAG	0.632000														70			24		0	0	1	0	0
ZRANB3	84083	broad.mit.edu	37	2	136111119	136111119	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136111119G>A	uc002tum.3	-	3	377	c.260C>T	c.(259-261)cCt>cTt	p.P87L	ZRANB3_uc002tuk.3_5'UTR|ZRANB3_uc002tul.3_Missense_Mutation_p.P87L|ZRANB3_uc002tun.1_Missense_Mutation_p.P27L	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	87	Helicase ATP-binding.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CAGAGACGAAGGGACCACTAT	0.358000														36			17		0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148545841	148545841	+	Missense_Mutation	SNP	C	T	T	rs114058679	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:148545841C>T	uc003ewl.3	+	1	147	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	42					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.R42H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TAACATAATCCGCGAGTTGGC	0.363000														84			27		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117308979	117308979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:117308979C>T	uc001lcg.3	+	25	4114	c.3728C>T	c.(3727-3729)tCc>tTc	p.S1243F	ATRNL1_uc010qsm.2_Missense_Mutation_p.S372F|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1243						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGTTTCCTATCCTTATTGCTG	0.313000														69			25		0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35804209	35804209	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35804209G>A	uc002nyy.2	+	10	1931	c.1733G>A	c.(1732-1734)gGa>gAa	p.G578E	MAG_uc002nyx.2_3'UTR|MAG_uc010eds.2_Missense_Mutation_p.G553E|MAG_uc002nyz.2_Missense_Mutation_p.G578E	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	578					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGGCGCCTGGGATCTGAGAGG	0.622000														89			16		0	0	1	0	0
SLC16A7	9194	broad.mit.edu	37	12	60168850	60168850	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:60168850C>T	uc001sqs.3	+	4	1073	c.774C>T	c.(772-774)ttC>ttT	p.F258F	SLC16A7_uc001sqt.3_Silent_p.F258F|SLC16A7_uc001squ.3_Silent_p.F258F|SLC16A7_uc009zqi.3_Silent_p.F159F|SLC16A7_uc010ssi.2_Silent_p.F159F	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	258						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TCATTATGTTCCTAGGTTTTT	0.363000														107			8		0	0	1	0	0
HMP19	51617	broad.mit.edu	37	5	173473792	173473792	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:173473792G>A	uc003mcx.3	+	1	179	c.34G>A	c.(34-36)Gga>Aga	p.G12R		NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	Homo sapiens HMP19 protein (HMP19), mRNA.	12					dopamine receptor signaling pathway	Golgi cisterna membrane|cytoplasmic vesicle membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)	15	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCGAGAAGGGAACCAAGCC	0.532000														103			39		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88769257	88769257	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:88769257G>A	uc001kee.2	+	11	2452	c.1248G>A	c.(1246-1248)acG>acA	p.T416T	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	416	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AGGGGCAGACGAAACCCTCAA	0.527000														158			59		0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12089447	12089447	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12089447C>T	uc010xmf.2	+	3	894	c.768C>T	c.(766-768)tcC>tcT	p.S256S	ZNF700_uc002msv.3_Silent_p.S239S|ZNF700_uc002msw.3_Silent_p.S236S|ZNF700_uc010xmg.2_Silent_p.S114S	NM_001012753	NP_001012771	Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 763 (ZNF763), mRNA.	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GTGTTAAATCCTTTAGTTATT	0.378000														84			28		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53671347	53671347	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53671347C>T	uc001sck.2	+	9	2270	c.2179C>T	c.(2179-2181)Cgt>Tgt	p.R727C	ESPL1_uc001scj.2_Missense_Mutation_p.R402C|ESPL1_uc010soe.1_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	727					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCAGGAAGATCGTTTCCTATA	0.502000														80			21		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99446978	99446978	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:99446978G>A	uc001tge.2	-	16	3152	c.2735C>T	c.(2734-2736)tCg>tTg	p.S912L	ANKS1B_uc001tgf.2_Missense_Mutation_p.S488L|ANKS1B_uc001tgk.3_Missense_Mutation_p.S209L|ANKS1B_uc001tgd.2_Missense_Mutation_p.S138L|ANKS1B_uc009ztr.3_Missense_Mutation_p.S138L|ANKS1B_uc001tgj.3_Missense_Mutation_p.S138L|ANKS1B_uc001tgi.3_Missense_Mutation_p.S138L|ANKS1B_uc009zts.2_Missense_Mutation_p.S138L|ANKS1B_uc001tgg.4_Missense_Mutation_p.S81L|ANKS1B_uc010svg.2_Missense_Mutation_p.S107L	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	912	SAM 2.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.S912L(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CAGGTCCATCGAAGTGTAGCC	0.408000														10			3		0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74134103	74134103	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74134103G>A	uc002jqx.3	-	2	952	c.597C>T	c.(595-597)ccC>ccT	p.P199P	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	199					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CCGCGTACTGGGGGTCAATGC	0.622000														25			14		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117663617	117663617	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:117663617G>A	uc003pxp.1	-	27	4814	c.4615C>T	c.(4615-4617)Cct>Tct	p.P1539S	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1539	Fibronectin type-III 6.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGTTCCAAAGGATCTGAATAA	0.333000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									49			6		0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8417209	8417209	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:8417209G>A	uc002glm.3	-	21	2604	c.2508C>T	c.(2506-2508)gcC>gcT	p.A836A	MYH10_uc002gll.3_Silent_p.A805A|MYH10_uc010cnx.3_Silent_p.A814A	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	805					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCTTGGCAAAGGCCCTGAAGA	0.453000														12			5		0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132527047	132527047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:132527047G>A	uc010sck.2	-	1	385	c.335C>T	c.(334-336)cCg>cTg	p.P112L	OPCML_uc001qgu.3_Missense_Mutation_p.P105L|OPCML_uc001qgs.3_Missense_Mutation_p.P112L|OPCML_uc001qgt.3_Missense_Mutation_p.P112L|OPCML_uc010scl.2_Missense_Mutation_p.P71L	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	112	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.P112L(2)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GCAGGTGTACGGACCTTCGTC	0.502000														89			22		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455136	70455136	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:70455136G>A	uc011caq.2	-	6	2152	c.2036C>T	c.(2035-2037)tCc>tTc	p.S679F	UGT2A1_uc010ihu.3_Missense_Mutation_p.S513F|UGT2A1_uc003hem.4_Missense_Mutation_p.S513F|UGT2A1_uc010ihs.3_Missense_Mutation_p.S522F|UGT2A1_uc021xox.1_Missense_Mutation_p.S478F|UGT2A1_uc010iht.3_Missense_Mutation_p.S469F	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	513					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTTTGACAGGAAAACAAACA	0.353000														62			23		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31127291	31127291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:31127291C>T	uc003tca.2	+	11	1224	c.935C>T	c.(934-936)cCt>cTt	p.P312L	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.P312L|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.P312L|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.P291L|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.P312L|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.P14L	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	312					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.P312N(2)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ATCAAAGGCCCTGTGGTTGGC	0.517000														64			24		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22915379	22915379	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22915379C>T	uc001bfx.1	+	4	1120	c.995C>T	c.(994-996)cCa>cTa	p.P332L	EPHA8_uc001bfw.3_Missense_Mutation_p.P332L	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	332	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCTCGGCACCAGTGAACCTG	0.587000														48			22		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37584296	37584296	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:37584296C>T	uc002yvg.3	+	6	884	c.805C>T	c.(805-807)Ctc>Ttc	p.L269F	DOPEY2_uc011aeb.2_Missense_Mutation_p.L269F	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	269					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						AGCCATCCCCCTCCTCAGATC	0.502000														85			25		0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9676110	9676110	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:9676110C>T	uc010vvb.2	-	4	717	c.704G>A	c.(703-705)gGa>gAa	p.G235E	DHRS7C_uc010cof.3_Missense_Mutation_p.G234E	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	235						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TTCCCAGTTTCCTTGCTCTGG	0.562000														23			17		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104164979	104164979	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104164979G>A	uc001kvg.1	-	12	2885	c.2358C>T	c.(2356-2358)ttC>ttT	p.F786F	PSD_uc001kvh.1_Silent_p.F407F|PSD_uc009xxd.1_Silent_p.F786F	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	786	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGATCCCGTGGAAGCTCTTCC	0.667000														57			41		0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45671756	45671756	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:45671756G>A	uc001cnd.2	-	0	495	c.267C>T	c.(265-267)atC>atT	p.I89I		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	89							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)					CGGGCTCCGGGATCCGCTCGA	0.677000														27			12		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57194407	57194407	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:57194407C>T	uc010kzo.3	-	2	329	c.58G>A	c.(58-60)Gac>Aac	p.D20N		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATAGCTATGTCTCTGAATGTC	0.413000														94			11		0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17629689	17629689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:17629689G>A	uc003ncd.1	-	17	2941	c.2741C>T	c.(2740-2742)cCt>cTt	p.P914L	NUP153_uc011dje.1_Missense_Mutation_p.P945L|NUP153_uc010jpl.1_Missense_Mutation_p.P872L	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	914					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AGTCTGAGAAGGCCCAGAAGA	0.413000														93			38		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104144428	104144428	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:104144428C>T	uc001tjw.3	+	59	6696	c.6510C>T	c.(6508-6510)ccC>ccT	p.P2170P	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2170					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGCAGCTGCCCATTGACCGCT	0.552000														52			18		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28474625	28474625	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:28474625G>A	uc001zbj.3	-	32	5207	c.5101C>T	c.(5101-5103)Cct>Tct	p.P1701S		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1701					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATTCCCTCAGGAATAAGTCTT	0.383000														106			45		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33588192	33588192	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33588192G>A	uc002xbi.2	+	38	5321	c.5004G>A	c.(5002-5004)gaG>gaA	p.E1668E		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1626						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGAAGATGGAGGGTGACCTCA	0.657000														95			43		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784959	9784959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:9784959C>T	uc003gmb.4	+	0	1702	c.1306C>T	c.(1306-1308)Cgc>Tgc	p.R436C		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	436					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.R436S(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TCCTTTCGATCGCATGTTCCA	0.557000														73			28		0	0	1	0	0
GLUD1	2746	broad.mit.edu	37	10	88818945	88818945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:88818945G>A	uc001keh.3	-	9	1614	c.1364C>T	c.(1363-1365)aCc>aTc	p.T455I	GLUD1_uc001keg.3_Missense_Mutation_p.T288I|GLUD1_uc010qmp.2_Missense_Mutation_p.T322I	NM_005271	NP_005262	P00367	DHE3_HUMAN	Homo sapiens glutamate dehydrogenase 1 (GLUD1), nuclear gene encoding mitochondrial protein, mRNA.	455					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|GTP binding|NAD+ binding|glutamate dehydrogenase|glutamate dehydrogenase activity|identical protein binding|leucine binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATATTTGAAGGTCAAACGGCC	0.398000														183			66		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6943094	6943094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6943094C>T	uc001qra.1	+	9	1370	c.1336C>T	c.(1336-1338)Ctt>Ttt	p.L446F	GPR162_uc001qrb.1_Missense_Mutation_p.L254F	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						GGCAGATGTCCTTCTCCTGGA	0.642000														79			21		0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900660	202900660	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:202900660C>T	uc002uyw.1	+	0	1351	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F		NM_003507	NP_003498	O75084	FZD7_HUMAN	Homo sapiens frizzled family receptor 7 (FZD7), mRNA.	430					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CGCCTCTGTTCGTCTACCTCT	0.627000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		99			30		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835772	61835772	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61835772G>A	uc001jky.3	-	36	5205	c.4867C>T	c.(4867-4869)Cga>Tga	p.R1623*	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.	1623	Ser-rich.				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						GGAGAGGTTCGAGAGGAAAAC	0.478000														89			30		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226715	39226715	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:39226715G>A	uc003cjk.2	-	1	4451	c.4222C>T	c.(4222-4224)Ccc>Tcc	p.P1408S	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.P91S|XIRP1_uc021wvz.1_Missense_Mutation_p.P1408S	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1408							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)		GTGGGCCTGGGGGCCGTGGTG	0.602000														54			22		0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58231851	58231851	+	Nonstop_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58231851A>T	uc002qpz.4	-	3	1702	c.1603T>A	c.(1603-1605)Taa>Aaa	p.*535K	ZNF551_uc002qpx.3_Intron|ZNF671_uc010eug.3_Nonstop_Mutation_p.*458K|ZNF671_uc010yhf.2_Nonstop_Mutation_p.*437K	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	Homo sapiens zinc finger protein 671 (ZNF671), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTACACTCTTAAAGCTTTTCT	0.483000														394			224		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189065014	189065014	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:189065014G>A	uc003izm.1	+	4	873	c.758_splice	c.e4+1	p.R253_splice	TRIML1_uc003izn.1_Splice_Site	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	253					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCCCTGGAAAGGTAGGCTTTC	0.493000														199			48		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143020469	143020469	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143020469G>A	uc003wcr.1	+	5	851	c.764G>A	c.(763-765)gGg>gAg	p.G255E	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Intron|CLCN1_uc010loy.1_Intron	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	255					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTGTTCTGCGGGGTATATGAG	0.602000														66			25		0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027859	92027859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92027859C>T	uc003ulw.2	+	19	3242	c.2866C>T	c.(2866-2868)Cct>Tct	p.P956S	ANKIB1_uc010lew.1_Missense_Mutation_p.P225S	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	956							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATCTAGTGATCCTGACTCAGC	0.493000														97			46		0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154284938	154284938	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:154284938G>A	uc003lvx.3	-	16	2577	c.2494C>T	c.(2494-2496)Cca>Tca	p.P832S	GEMIN5_uc011ddk.1_Missense_Mutation_p.P831S	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	832					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCTCTTTTGGTGGCTCCTTT	0.338000														85			24		0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116960807	116960807	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:116960807C>T	uc003viz.3	-	1	424	c.124G>A	c.(124-126)Gat>Aat	p.D42N	WNT2_uc003vja.3_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	42					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGCACATTATCGCACATCACC	0.592000														23			3		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90281242	90281242	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:90281242G>A	uc003kju.3	+	84	18151	c.18055G>A	c.(18055-18057)Gga>Aga	p.G6019R	GPR98_uc003kjt.3_Missense_Mutation_p.G3725R|GPR98_uc003kjw.3_Missense_Mutation_p.G1680R|GPR98_uc003kjx.3_Missense_Mutation_p.G47R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	6019					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTGAGTTGGGGACTACCAGC	0.418000														40			12		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501704	90501704	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90501704C>T	uc004app.4	+	3	2337	c.2302C>T	c.(2302-2304)Cat>Tat	p.H768Y	FAM75E1_uc004apo.1_Missense_Mutation_p.H580Y	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	768						integral to membrane											GCTGCAAATCCATCTGGCCAG	0.552000														56			18		0	0	1	0	0
VAMP7	6845	broad.mit.edu	37	X	155127867	155127867	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:155127867C>T	uc004fnr.3	+	3	474	c.296C>T	c.(295-297)cCa>cTa	p.P99L	VAMP7_uc011naa.2_Missense_Mutation_p.P60L|VAMP7_uc011nab.2_5'UTR|VAMP7_uc004fnt.3_Missense_Mutation_p.P58L|VAMP7_uc004fns.3_Missense_Mutation_p.P99L|VAMP7_uc011nac.2_Missense_Mutation_p.P32L	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	99	Longin.				ER to Golgi vesicle-mediated transport|calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	Golgi apparatus|SNARE complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|transport vesicle membrane	protein binding	p.P99P(1)|p.L98V(1)		large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACAGCACTTCCATATGCCATG	0.393000														116			58		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121630439	121630439	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121630439C>T	uc003eep.2	+	3	507	c.354C>T	c.(352-354)tcC>tcT	p.S118S	SLC15A2_uc011bjn.1_Intron	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	118					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	p.S118F(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TCTATCTCTCCTTGGTGTATG	0.418000														43			15		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12958036	12958036	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:12958036G>A	uc003wwm.2	-	8	2254	c.1810C>T	c.(1810-1812)Ccc>Tcc	p.P604S	DLC1_uc003wwk.1_Missense_Mutation_p.P167S|DLC1_uc003wwl.1_Missense_Mutation_p.P201S|DLC1_uc011kxx.1_Missense_Mutation_p.P93S	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	604					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCGTGGCTGGGGAGGCTGCCA	0.672000														86			10		0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5785466	5785466	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:5785466G>A	uc002mdc.3	-	11	1905	c.1808C>T	c.(1807-1809)cCc>cTc	p.P603L	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.3_Missense_Mutation_p.P361L	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	603					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CAGGTAGTAGGGCGGCCGCTC	0.682000														5			4		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124281801	124281801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124281801G>A	uc003ehg.3	+	33	5168	c.5041G>A	c.(5041-5043)Gag>Aag	p.E1681K	KALRN_uc003ehi.3_Missense_Mutation_p.E54K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1681	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E1681*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCGGCCCAGCGAGCGGCCTGG	0.657000														36			12		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157771953	157771953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157771953C>T	uc001frg.3	-	4	751	c.638G>A	c.(637-639)aGg>aAg	p.R213K	FCRL1_uc001frf.3_Splice_Site|FCRL1_uc001frh.3_Missense_Mutation_p.R213K|FCRL1_uc001fri.3_Missense_Mutation_p.R213K|FCRL1_uc001frj.3_Splice_Site	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	213	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTGGGAGCCCTGAGCATGAG	0.567000														44			28		0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113825664	113825664	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113825664C>T	uc001tve.2	+	10	1590	c.1555C>T	c.(1555-1557)Ccc>Tcc	p.P519S	PLBD2_uc001tvf.2_Missense_Mutation_p.P487S	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	519					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TGGCTCCTACCCCTTCCAGGC	0.637000														219			60		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140774646	140774646	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140774646G>A	uc003lkd.2	+	0	3164	c.2266G>A	c.(2266-2268)Gaa>Aaa	p.E756K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.E756K|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	761					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T756T(1)		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)			CTATTCCCAGGAAGTCTCCCT	0.562000														110			13		0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46757161	46757161	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46757161G>A	uc003cqe.1	-	2	816	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	PRSS50_uc021wxe.1_Missense_Mutation_p.P112S|PRSS50_uc003cqf.2_Missense_Mutation_p.P26S	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	112	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CTGAGGGTGGGGTCCTGCTCG	0.637000														13			3		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81647141	81647141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81647141C>T	uc001szl.1	+	13	1866	c.1775C>T	c.(1774-1776)cCc>cTc	p.P592L	ACSS3_uc001szm.1_Missense_Mutation_p.P591L|ACSS3_uc001szn.1_Missense_Mutation_p.P274L	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	592						mitochondrion	ATP binding|acetate-CoA ligase activity	p.D591V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AAGGAAGATCCCTTAAAAGGT	0.398000														216			53		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34775646	34775646	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34775646G>A	uc002xfb.3	+	7	1005	c.834G>A	c.(832-834)aaG>aaA	p.K278K	EPB41L1_uc002xeu.3_Silent_p.K216K|EPB41L1_uc010zvo.1_Silent_p.K278K|EPB41L1_uc002xev.3_Silent_p.K278K|EPB41L1_uc002xew.3_Silent_p.K181K|EPB41L1_uc002xex.3_Silent_p.K247K|EPB41L1_uc002xey.3_Silent_p.K205K|EPB41L1_uc002xez.3_Silent_p.K216K	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	278	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGAATGCCAAGAAGCTTTCCA	0.537000														35			12		0	0	1	0	0
NUDT21	11051	broad.mit.edu	37	16	56481894	56481894	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:56481894G>A	uc002eja.3	-	1	271	c.124C>T	c.(124-126)Ctt>Ttt	p.L42F		NM_007006	NP_008937	O43809	CPSF5_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 21 (NUDT21), mRNA.	42	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						TAATTGGTAAGAGGGTACCTG	0.393000														38			7		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145114840	145114840	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145114840G>A	uc003zar.3	-	1	178	c.96C>T	c.(94-96)gtC>gtT	p.V32V	OPLAH_uc003zat.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	32							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCAGTTTTAAGACCCGCACGT	0.667000														50			15		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1658192	1658192	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1658192G>A	uc002qxa.3	-	14	1990	c.1926C>T	c.(1924-1926)acC>acT	p.T642T	PXDN_uc002qxb.1_Silent_p.T642T	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	642					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AATGTGTTCGGGTTGAGTTTA	0.468000														46			6		0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47651609	47651609	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:47651609G>A	uc003crq.2	-	25	3108	c.2990C>T	c.(2989-2991)cCt>cTt	p.P997L	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Missense_Mutation_p.P888L	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	997	Pro-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		AGGGTAGGGAGGGGGCTGTTG	0.602000														113			12		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78320047	78320047	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:78320047C>T	uc002jyh.2	+	29	8202	c.8059C>T	c.(8059-8061)Ctc>Ttc	p.L2687F	RNF213_uc021uen.1_Missense_Mutation_p.L2638F	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTTTGTCAGCCTCAGGGACGT	0.537000														77			25		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56416316	56416316	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56416316C>T	uc010ygg.2	-	7	2635	c.2610G>A	c.(2608-2610)gaG>gaA	p.E870E		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	870							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ACTCCAGTCTCTCTAAGGCAC	0.413000														39			21		0	0	1	0	0
MEX3C	51320	broad.mit.edu	37	18	48703761	48703761	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:48703761G>A	uc002lfc.4	-	1	1301	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	Homo sapiens mex-3 homolog C (C. elegans) (MEX3C), mRNA.	314						cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		AATCCTCCCAGGGCAGGCCCA	0.507000														34			4		0	0	1	0	0
PPP2R2B	5521	broad.mit.edu	37	5	145972622	145972622	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:145972622G>A	uc011dbv.2	-	9	1401	c.1138C>T	c.(1138-1140)Cat>Tat	p.H380Y	PPP2R2B_uc010jgm.3_Missense_Mutation_p.H311Y|PPP2R2B_uc003loe.3_Missense_Mutation_p.H322Y|PPP2R2B_uc003log.4_Missense_Mutation_p.H322Y|PPP2R2B_uc003lof.4_Missense_Mutation_p.H322Y|PPP2R2B_uc003loi.4_Missense_Mutation_p.H325Y|PPP2R2B_uc003loh.4_Missense_Mutation_p.H322Y|PPP2R2B_uc003lok.4_Missense_Mutation_p.H311Y|PPP2R2B_uc003loj.4_Missense_Mutation_p.H302Y|PPP2R2B_uc011dbu.2_Missense_Mutation_p.H328Y	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	322					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTAGTCATGAACCTGGAGA	0.393000														117			54		0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99456460	99456460	+	Missense_Mutation	SNP	C	T	T	rs45483397		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:99456460C>T	uc002bul.3	+	7	1827	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y	IGF1R_uc010urq.2_Missense_Mutation_p.H593Y|IGF1R_uc010bon.3_Missense_Mutation_p.H593Y|IGF1R_uc010urr.1_Missense_Mutation_p.H43Y	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	593	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GGAGAACGACCATATCCGTGG	0.552000														137			27		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272640	52272640	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52272640C>T	uc002pxr.3	+	1	774	c.729C>T	c.(727-729)ctC>ctT	p.L243L	FPR2_uc002pxs.4_Silent_p.L243L|FPR2_uc010epf.3_Silent_p.L243L|FPR2_uc021uyp.1_Silent_p.L243L	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	243					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TACGGGTCCTCACTGCTGTGG	0.498000														48			26		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13414658	13414658	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:13414658C>T	uc002mwy.3	-	15	2263	c.2027G>A	c.(2026-2028)gGg>gAg	p.G676E	CACNA1A_uc010dzc.2_Missense_Mutation_p.G202E|CACNA1A_uc010xnd.2_Missense_Mutation_p.G676E|CACNA1A_uc021ups.1_Missense_Mutation_p.G676E|CACNA1A_uc010xne.2_Missense_Mutation_p.G676E|CACNA1A_uc010dze.2_Missense_Mutation_p.G676E|CACNA1A_uc021upt.1_Missense_Mutation_p.G677E	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	677					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGACTTGATCCCGTCGTACAT	0.557000														74			121		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19047005	19047005	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19047005G>A	uc002dfp.2	+	6	995	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	TMC7_uc010vao.1_Missense_Mutation_p.E289K|TMC7_uc002dfq.3_Missense_Mutation_p.E289K|TMC7_uc010vap.2_Missense_Mutation_p.E179K	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	289						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CAGGTCGGTGGAAGGATTCAA	0.438000														83			16		0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53086630	53086630	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53086630C>T	uc001saw.3	-	5	1144	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	KRT77_uc009zmi.3_Missense_Mutation_p.G130E	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	372	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CAGGTCGTCTCCATGTCTCCC	0.587000														55			16		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17122442	17122442	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17122442G>A	uc002nfb.3	-	3	566	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	131						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCGTCTGGATGAATACAGAAG	0.657000														113			44		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36848065	36848065	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36848065G>A	uc002xhy.1	-	10	2795	c.2523C>T	c.(2521-2523)gtC>gtT	p.V841V	KIAA1755_uc002xhv.1_5'Flank|KIAA1755_uc002xhw.1_5'Flank|KIAA1755_uc002xhx.1_Silent_p.V119V	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	841										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCCCAGGCGGACACGGAGCT	0.622000														95			27		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504556	70504556	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:70504556G>A	uc001dep.3	+	18	2965	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K	LRRC7_uc009wbg.3_Missense_Mutation_p.E263K|LRRC7_uc001deq.3_Missense_Mutation_p.E220K	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	979						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						AGGAAGCCACGAACGACCGGA	0.453000														70			21		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739639	15739639	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15739639C>T	uc002nbi.3	+	12	1444	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	CYP4F8_uc010xoj.2_Silent_p.F273F	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	461					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TTATTCCTTTCTCGGCGGGGC	0.597000														85			28		0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111154973	111154973	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:111154973C>T	uc001plc.3	+	2	327	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	60										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		AGCCCTACTTCCCCCAGGAGC	0.662000														87			45		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389047	20389047	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20389047C>T	uc010tkw.2	+	0	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F94L(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCATATCTTTCAGTGGCTGCA	0.423000														212			106		0	0	1	0	0
ANO10	55129	broad.mit.edu	37	3	43596891	43596891	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:43596891G>A	uc003cmv.3	-	9	1718	c.1547C>T	c.(1546-1548)cCa>cTa	p.P516L	ANO10_uc011azs.2_Missense_Mutation_p.P516L|ANO10_uc003cmw.3_Missense_Mutation_p.P450L|ANO10_uc010hil.3_Missense_Mutation_p.P326L|ANO10_uc011azt.2_Missense_Mutation_p.P405L	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA.	516					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						AGCTGCTAATGGGTAAACACA	0.383000														83			24		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45127468	45127468	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:45127468C>T	uc003com.3	-	8	2308	c.2173G>A	c.(2173-2175)Ggg>Agg	p.G725R		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	725						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCCTTTCGCCCTTTCTGAAAC	0.488000														290			26		0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50139825	50139825	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:50139825G>A	uc002xwd.3	-	1	1175	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	NFATC2_uc002xwc.3_Missense_Mutation_p.P319S|NFATC2_uc010zyv.2_Missense_Mutation_p.P100S|NFATC2_uc010zyw.2_Missense_Mutation_p.P100S|NFATC2_uc002xwe.3_Missense_Mutation_p.P299S|NFATC2_uc010zyx.2_Missense_Mutation_p.P299S|NFATC2_uc010zyy.2_Missense_Mutation_p.P100S|NFATC2_uc010zyz.2_Missense_Mutation_p.P100S	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	319					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ATCTTGGGGGGGATCCCACAA	0.687000														30			16		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29012409	29012409	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29012409G>A	uc001usb.3	-	3	747	c.462C>T	c.(460-462)ctC>ctT	p.L154L	FLT1_uc010aar.1_Silent_p.L154L|FLT1_uc001usc.3_Silent_p.L154L|FLT1_uc010tdp.1_Silent_p.L154L	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	154	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGGGAATGACGAGCTCCCTTC	0.388000														20			41		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131519878	131519878	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:131519878C>T	uc021voy.1	+	0	233	c.233C>T	c.(232-234)cCc>cTc	p.P78L	FAM123C_uc002trw.2_Missense_Mutation_p.P78L|FAM123C_uc010fmv.2_Missense_Mutation_p.P78L|FAM123C_uc010fms.1_Missense_Mutation_p.P78L|FAM123C_uc010fmt.1_Missense_Mutation_p.P78L|FAM123C_uc010fmu.1_Missense_Mutation_p.P78L	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	78								p.G77R(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		AAAGGGGGACCCGCAGCCCTC	0.652000														10			7		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43771241	43771241	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:43771241G>A	uc010skx.2	-	31	4922	c.4922C>T	c.(4921-4923)cCt>cTt	p.P1641L		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1641	TSP type-1 14.					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)		CTGAGAGGAAGGCACCACAGG	0.408000														35			5		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31424182	31424183	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31424182_31424183CC>TT	uc010cap.1	+	14	1783_1784	c.1734_1735CC>TT	c.(1732-1737)tccccc>tcTTcc	p.P579S	ITGAD_uc002ebv.1_Missense_Mutation_p.P578S	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	578					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCCAGCTCTCCCCCAGGCTGCA	0.599000														85			47		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559433	20559433	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20559433C>T	uc002dhj.4	-	8	1259	c.1049G>A	c.(1048-1050)aGg>aAg	p.R350K	ACSM2B_uc002dhk.4_Missense_Mutation_p.R350K|ACSM2B_uc010bwf.1_Missense_Mutation_p.R350K	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	350					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGTCTGGGCCCTCCAGTTCTC	0.512000														205			45		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604454	140604454	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140604454C>T	uc003ljb.3	+	0	1377	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	459	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.607000														223			80		0	0	1	0	0
AQP12A	375318	broad.mit.edu	37	2	241631526	241631526	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241631526G>A	uc002vzu.3	+	1	228	c.159G>A	c.(157-159)ggG>ggA	p.G53G	AQP12A_uc002vzv.3_Intron	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN	Homo sapiens aquaporin 12A (AQP12A), mRNA.	53						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CCTGGGCTGGGGACTTTGGGC	0.697000														27			6		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60773266	60773266	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:60773266G>A	uc002sae.1	-	1	453	c.225C>T	c.(223-225)ctC>ctT	p.L75L	BCL11A_uc002sab.3_Silent_p.L75L|BCL11A_uc002sac.3_Silent_p.L75L|BCL11A_uc010ypi.2_5'UTR|BCL11A_uc010ypj.2_Silent_p.L75L|BCL11A_uc002saf.1_Silent_p.L75L|BCL11A_uc010fcg.3_Silent_p.L75L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	75	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTTCTAAGCAGAGGCTGCCAT	0.498000			T	IGH@	B-CLL									88			11		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73615396	73615396	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:73615396C>T	uc002avp.3	-	7	4032	c.3038G>A	c.(3037-3039)gGg>gAg	p.G1013E		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	1013	Pro-rich.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGGGGAAGCCCCCCCAGAGGC	0.711000														9			5		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106829885	106829885	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106829885G>A	uc021ser.1	-	518		c.15018C>T			abParts_uc001ysx.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GCTGCACCTGGGACAGGACCC	0.562000														44			20		0	0	1	0	0
HPGDS	27306	broad.mit.edu	37	4	95220653	95220653	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:95220653C>T	uc003hte.1	-	5	669	c.578G>A	c.(577-579)cGa>cAa	p.R193Q		NM_014485	NP_055300	O60760	HPGDS_HUMAN	Homo sapiens hematopoietic prostaglandin D synthase (HPGDS), mRNA.	193	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	TTGGGGCCTTCGTTTTATCCA	0.478000														57			35		0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230462	147230462	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:147230462G>A	uc021ovl.1	-	0	885	c.885C>T	c.(883-885)aaC>aaT	p.N295N	GJA5_uc001eps.1_Silent_p.N295N|GJA5_uc001ept.1_Silent_p.N295N	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	295					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CGGTGACCAGGTTGTCTGTGT	0.532000														133			31		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50339780	50339780	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:50339780C>T	uc004dpe.2	-	8	4423	c.4397G>A	c.(4396-4398)cGa>cAa	p.R1466Q	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1466	ASD2.				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)					CTCCAGCTCTCGCTGTTCAAT	0.502000														17			21		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13720097	13720097	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:13720097C>T	uc001rbt.2	-	11	2639	c.2460G>A	c.(2458-2460)ggG>ggA	p.G820G		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	820					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTAGAAGACCCCTGCCATGT	0.512000														74			20		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23886741	23886742	+	Silent	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23886741_23886742GG>AA	uc001wjx.3	-	30	4429_4430	c.4323_4324CC>TT	c.(4321-4326)gccctg>gcTTtg	p.1441_1442AL>AL		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1441					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCTTGTCCAGGGCTGCAGCAG	0.609000														121			42		0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46717501	46717501	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:46717501G>A	uc002eef.4	-	1	120	c.21C>T	c.(19-21)tcC>tcT	p.S7S	VPS35_uc002eee.3_5'UTR	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	7					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CATCCTGAGGGGACTGCTGTG	0.433000														28			5		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16235856	16235856	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16235856C>T	uc001axk.1	+	3	1126	c.922C>T	c.(922-924)Cga>Tga	p.R308*	SPEN_uc010obp.1_Nonsense_Mutation_p.R267*	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	308	Ser-rich.				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)		TTCTCCAGCTCGATCAGTTCA	0.443000														232			19		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67039548	67039548	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:67039548G>A	uc003xvv.3	+	0	271	c.45G>A	c.(43-45)caG>caA	p.Q15Q	TRIM55_uc003xvu.3_Silent_p.Q15Q|TRIM55_uc003xvw.3_Silent_p.Q15Q|TRIM55_uc003xvx.3_Silent_p.Q15Q	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	15						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AAGAGCAGCAGACCATGGATA	0.502000														103			26		0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24590594	24590594	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24590594C>T	uc001wlv.3	+	12	1547	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S	DCAF11_uc001wlw.3_Missense_Mutation_p.P423S|DCAF11_uc001wlz.3_Missense_Mutation_p.P323S|DCAF11_uc001wly.3_Missense_Mutation_p.P379S|DCAF11_uc010tny.2_Missense_Mutation_p.P290S|DCAF11_uc001wmc.3_Missense_Mutation_p.P323S|DCAF11_uc001wmb.4_Missense_Mutation_p.P397S|DCAF11_uc001wma.4_Missense_Mutation_p.P423S	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	423						CUL4 RING ubiquitin ligase complex	protein binding										GCTGAAGCTCCCAGGGGACAG	0.572000														110			43		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240341321	240341321	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240341321C>T	uc010pye.2	+	2	2108	c.1883C>T	c.(1882-1884)cCa>cTa	p.P628L	FMN2_uc010pyd.2_Missense_Mutation_p.P628L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	628					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATGGGGCCACCATCCAAACCT	0.493000														60			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640348	179640348	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179640348G>A	uc021vsy.1	-	27	6468	c.6243C>T	c.(6241-6243)ttC>ttT	p.F2081F	TTN_uc021vsz.1_Silent_p.F2035F|TTN_uc021vta.1_Silent_p.F2035F|TTN_uc021vtb.1_Silent_p.F2035F|TTN_uc002unb.2_Silent_p.F2081F|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2081	Ig-like 10.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F2035L(3)|p.F2081L(2)		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)			GGATTCTTTCGAAGATTTTTG	0.453000														73			29		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128492726	128492726	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128492726G>A	uc003vnz.4	+	35	6133	c.5924G>A	c.(5923-5925)aGc>aAc	p.S1975N	FLNC_uc003voa.4_Missense_Mutation_p.S1942N	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1975					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGTGATCTGAGCCAGCTGACC	0.647000														60			37		0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19018322	19018322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:19018322C>T	uc001bay.3	+	4	1259	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	PAX7_uc001baz.3_Missense_Mutation_p.R219W|PAX7_uc010oct.2_Missense_Mutation_p.R221W	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	221					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GCGACGCAGTCGGACCACATT	0.637000			T	FOXO1A	alveolar rhabdomyosarcoma									18			7		0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12820790	12820790	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12820790C>T	uc001auh.3	+	3	707	c.491C>T	c.(490-492)tCa>tTa	p.S164L		NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA.	164										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACTTATACTTCATCCTACCCC	0.567000														86			34		0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50401220	50401220	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:50401220G>A	uc002xwh.4	-	3	2847	c.2746C>T	c.(2746-2748)Cac>Tac	p.H916Y	SALL4_uc010gii.3_Missense_Mutation_p.H479Y|SALL4_uc002xwi.4_Missense_Mutation_p.H139Y	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	916					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCATGTAGTGAACCTATGGG	0.468000														64			19		0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102665589	102665589	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:102665589C>T	uc003vaq.2	-	5	843	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	FBXL13_uc010liq.1_5'UTR|FBXL13_uc010lir.1_Missense_Mutation_p.R139Q|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.R139Q|FBXL13_uc003vav.2_Non-coding_Transcript	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	139										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						AGAAGAACTTCGTTCAGGAAA	0.318000														44			7		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183312	13183312	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:13183312C>T	uc010obg.2	-	1	804	c.561G>A	c.(559-561)ttG>ttA	p.L187L		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	187						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TTATCTGGGTCAACTCCTGCT	0.438000														742			60		0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40900930	40900930	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40900930C>T	uc002onr.3	-	6	3598	c.3329G>A	c.(3328-3330)gGg>gAg	p.G1110E	PRX_uc002onq.3_Missense_Mutation_p.G971E|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1110	Glu-rich (acidic).				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)			CTCTGCCCTCCCTTCCTCCTG	0.667000														62			22		0	0	1	0	0
RNF186	54546	broad.mit.edu	37	1	20141519	20141519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:20141519G>A	uc001bcr.3	-	0	253	c.76C>T	c.(76-78)Cct>Tct	p.P26S		NM_019062	NP_061935	Q9NXI6	RN186_HUMAN	Homo sapiens ring finger protein 186 (RNF186), mRNA.	26						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCCAGCAGGGGCCACAGCG	0.652000														68			36		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13418631	13418631	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:13418631C>T	uc002mwy.3	-	14	2187	c.1951G>A	c.(1951-1953)Gat>Aat	p.D651N	CACNA1A_uc010dzc.2_Missense_Mutation_p.D177N|CACNA1A_uc010xnd.2_Missense_Mutation_p.D651N|CACNA1A_uc021ups.1_Missense_Mutation_p.D651N|CACNA1A_uc010xne.2_Missense_Mutation_p.D651N|CACNA1A_uc010dze.2_Missense_Mutation_p.D651N|CACNA1A_uc021upt.1_Missense_Mutation_p.D652N	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	652					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGAAAAGTATCGAAGTTGGTG	0.557000														84			22		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140773898	140773898	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140773898C>T	uc003lkd.2	+	0	2416	c.1518C>T	c.(1516-1518)tcC>tcT	p.S506S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.S506S|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	508	Cadherin 5.				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)			CGTATATCTCCATCAACTCTG	0.592000														83			8		0	0	1	0	0
AARD	441376	broad.mit.edu	37	8	117954928	117954928	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:117954928G>A	uc003yof.3	+	1	475	c.456G>A	c.(454-456)gcG>gcA	p.A152A		NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN	Homo sapiens chromosome 8 open reading frame 85 (C8orf85), mRNA.	152																	ATGATGCTGCGAATCCGGAAT	0.502000														67			19		0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46107906	46107906	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46107906G>A	uc003oxy.3	+	1	845	c.586G>A	c.(586-588)Gga>Aga	p.G196R		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	196						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CCACAAATACGGACCTGAAGA	0.383000														89			43		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	828709	828709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:828709G>A	uc002cjz.1	-	3	1013	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	71					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CTGGTCCCGGGGCAGCTGGCT	0.692000														5			3		0	0	1	0	0
NR0B2	8431	broad.mit.edu	37	1	27238410	27238410	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27238410C>T	uc001bnf.3	-	1	836	c.700G>A	c.(700-702)Gac>Aac	p.D234N	BC016143_uc021ojq.1_Intron	NM_021969	NP_068804	Q15466	NR0B2_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA.	234					cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		AAGAAGAGGTCCCCAAGCAGG	0.597000														130			34		0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169535587	169535588	+	Missense_Mutation	DNP	TC	CT	CT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:169535587_169535588TC>CT	uc003mai.4	+	1	1154_1155	c.1109_1110TC>CT	c.(1108-1110)ctc>cCT	p.L370P	FOXI1_uc003maj.4_Missense_Mutation_p.L275P	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	370					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA 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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTGGTGTCCTCTACCCCAGGG	0.574000									Pendred syndrome					86			35		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47278192	47278193	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47278192_47278193GG>AA	uc001cqn.4	+	3	476_477	c.392_393GG>AA	c.(391-393)ggg>gAA	p.G131E	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Missense_Mutation_p.G131E|CYP4B1_uc009vym.3_Missense_Mutation_p.G116E|CYP4B1_uc010omk.2_5'UTR|CYP4B1_uc010oml.1_5'UTR	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	131					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.G131V(2)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GTTCTTGAGGGGCCCAAGTGGT	0.589000														25			11		0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12760990	12760990	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12760990G>A	uc002mub.2	-	16	2169	c.2093C>T	c.(2092-2094)tCc>tTc	p.S698F	MAN2B1_uc010dyv.1_Missense_Mutation_p.S697F	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	698					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	p.S698S(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AACCACCTGGGAACACCAAGC	0.627000														134			14		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389216	48389216	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48389216G>A	uc001jez.3	-	0	1776	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	554	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACTGCATAAGGAAGGCGAACT	0.672000														49			27		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543050	28543050	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28543050C>T	uc003nlo.3	-	2	2050	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	478	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTCGGATATCCTCAGTTTGT	0.428000														79			36		0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24442461	24442461	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:24442461G>A	uc002kwa.3	-	1	195	c.132C>T	c.(130-132)gcC>gcT	p.A44A	CHST9-AS1_uc002kwb.2_5'Flank|CHST9-AS1_uc010xbm.2_5'Flank|AQP4_uc002kvz.3_Silent_p.A22A	NM_001650	NP_001641	P55087	AQP4_HUMAN	Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA.	44					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AAATAAGCATGGCCAGAAATT	0.488000														186			83		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40412180	40412180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40412180G>A	uc002omp.4	-	6	3456	c.3448C>T	c.(3448-3450)Ccg>Tcg	p.P1150S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1150	Cys-rich.|TIL 2.					extracellular region	protein binding	p.P1150P(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGGACAGCGGGCAGCCGTAG	0.622000														56			15		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111158873	111158873	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:111158873C>T	uc001vqx.3	+	45	4803	c.4514C>T	c.(4513-4515)cCa>cTa	p.P1505L		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1505	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCATGTGCCCAGTGGGCATG	0.652000														27			4		0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381657	156381657	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156381657C>T	uc003lwh.2	-	1	226	c.169G>A	c.(169-171)Gac>Aac	p.D57N	TIMD4_uc010jii.2_Missense_Mutation_p.D57N	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	57	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGCACTGGTCTTTCCCCCAG	0.527000														63			31		0	0	1	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954432	10954432	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10954432G>A	uc001qyv.3	-	0	795	c.738C>T	c.(736-738)gcC>gcT	p.A246A		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	Homo sapiens taste receptor, type 2, member 7 (TAS2R7), mRNA.	246					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						ACAAATAGTAGGCAATAAAGA	0.493000														56			14		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564328	176564328	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176564328G>A	uc001gkz.3	+	2	2752	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M	PAPPA2_uc001gky.1_Missense_Mutation_p.V530M|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	530	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTACCAGGTGGTGAACATCTG	0.527000														39			6		0	0	1	0	0
GJB2	2706	broad.mit.edu	37	13	20763336	20763336	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:20763336C>T	uc001umy.3	-	1	600	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	GJB2_uc021rha.1_Missense_Mutation_p.E129K	NM_004004	NP_003995	P29033	CXB2_HUMAN	Homo sapiens gap junction protein, beta 2, 26kDa (GJB2), mRNA.	129			E -> K (in DFNB1A).		cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	ER-Golgi intermediate compartment|connexon complex|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		AGGGAGCCTTCGATGCGGACC	0.507000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			20		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020752	5020752	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5020752C>T	uc010qyu.2	+	0	540	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCACGCCTTCTGTTTGCACC	0.473000														116			21		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513660	99513660	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:99513660G>A	uc003dti.1	+	2	1046	c.918G>A	c.(916-918)ggG>ggA	p.G306G	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Silent_p.G305G|COL8A1_uc003dth.1_Silent_p.G305G	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	305	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGGTACCGGGGGTTCAAGGAC	0.642000														30			16		0	0	1	0	0
NUP210P1	255330	broad.mit.edu	37	3	126386152	126386152	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:126386152C>T	uc003eje.1	+	3	604	c.360C>T	c.(358-360)acC>acT	p.T120T						Homo sapiens nucleoporin 210kDa pseudogene 1 (NUP210P1), non-coding RNA.																		GGTCTGTCACCAAGCGGGACA	0.602000														28			13		0	0	1	0	0
POLD2	5425	broad.mit.edu	37	7	44156455	44156455	+	Silent	SNP	G	A	A	rs142289447	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44156455G>A	uc010kxz.3	-	6	1391	c.741C>T	c.(739-741)ctC>ctT	p.L247L	POLD2_uc010kya.3_Silent_p.L247L|POLD2_uc003tkf.4_Silent_p.L247L	NM_006230	NP_006221	P49005	DPOD2_HUMAN	Homo sapiens polymerase (DNA directed), delta 2, regulatory subunit 50kDa (POLD2), transcript variant 2, mRNA.	247					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|base-excision repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						TGTGGCTGAGGAGGTTGCCAG	0.637000														48			18		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24209511	24209511	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24209511G>A	uc003xdy.3	+	20	2273	c.2190G>A	c.(2188-2190)atG>atA	p.M730I	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.M417I	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	730					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGAGTCAGATGAAGCCCCATG	0.383000														76			30		0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665616	20665616	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20665616C>T	uc010tlb.2	+	0	122	c.122C>T	c.(121-123)cCc>cTc	p.P41L		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTCAACAGCCCCAGCAACTCC	0.473000														47			8		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47559743	47559743	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47559743C>T	uc003gxk.1	+	11	2051	c.1887C>T	c.(1885-1887)ttC>ttT	p.F629F	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	629					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AAAGTCTTTTCCAGAGATGGT	0.448000														51			14		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21690356	21690356	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21690356G>A	uc002djh.3	+	3	122	c.121_splice	c.e3-1	p.E41_splice	LOC23117_uc021tel.1_Intron	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	41					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TTGCCTTTTAGGAAGAAATAA	0.383000														200			24		0	0	1	0	0
CCDC64B	146439	broad.mit.edu	37	16	3080783	3080783	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3080783C>T	uc002ctf.4	-	2	574	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	CCDC64B_uc002cte.4_5'UTR|CCDC64B_uc010bta.1_Silent_p.G76G	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN	Homo sapiens coiled-coil domain containing 64B (CCDC64B), mRNA.	177										breast(1)|endometrium(2)|large_intestine(1)	4						GCGTCCAGTTCCCTCTGAAGT	0.642000														12			4		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55202068	55202068	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:55202068C>A	uc003jql.3	+	8	1396	c.1204C>A	c.(1204-1206)Ctt>Att	p.L402I	IL31RA_uc003jqk.3_Missense_Mutation_p.L402I|IL31RA_uc011cqj.2_Missense_Mutation_p.L260I|IL31RA_uc003jqm.3_Missense_Mutation_p.L383I|IL31RA_uc003jqn.3_Missense_Mutation_p.L402I|IL31RA_uc010iwa.1_Missense_Mutation_p.L370I|IL31RA_uc021xyq.1_Missense_Mutation_p.L383I|IL31RA_uc003jqo.3_Missense_Mutation_p.L260I	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	370	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)				GCCCACCACCCTTTCCTGGGA	0.537000														46			19		2.70639e-06	2.71155e-06	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3227866	3227866	+	Missense_Mutation	SNP	C	T	T	rs149129110		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:3227866C>T	uc004crg.4	-	6	8535	c.8378G>A	c.(8377-8379)gGa>gAa	p.G2793E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2793	Ig-like C2-type 12.					extracellular region				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)				GGTCAGTGATCCCTGGGGGTG	0.502000														14			25		0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042352	75042352	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:75042352G>A	uc002ayr.1	+	1	337	c.273G>A	c.(271-273)ctG>ctA	p.L91L		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	91					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	TGAGCCGCCTGGACACCATCC	0.652000														85			14		0	0	1	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202914163	202914163	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:202914163G>A	uc001gyq.4	-	4	832	c.565C>T	c.(565-567)Ctc>Ttc	p.L189F	ADIPOR1_uc010pqd.2_Missense_Mutation_p.L113F|ADIPOR1_uc001gyr.4_Intron|ADIPOR1_uc001gys.4_Missense_Mutation_p.L189F	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA.	189					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GTGTGAAAGAGCCAGGAGAAG	0.448000														158			13		0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151376574	151376575	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151376574_151376575CC>TT	uc010ntk.1	-	6	916_917	c.676_677GG>AA	c.(676-678)gga>AAa	p.G226K		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	226					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			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTGTTCTTTCCGAGAGTCCAA	0.446000														35			56		0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67938308	67938308	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:67938308G>A	uc004dxb.3	+	5	1766	c.1552G>A	c.(1552-1554)Gga>Aga	p.G518R	STARD8_uc004dxa.3_Missense_Mutation_p.G438R|STARD8_uc004dxc.4_Missense_Mutation_p.G438R	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	438					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TGTGGAAGAAGGACACTCCAT	0.642000														8			16		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18892399	18892399	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:18892399C>T	uc003zne.4	+	25	4808	c.4656C>T	c.(4654-4656)acC>acT	p.T1552T	ADAMTSL1_uc003znf.4_Silent_p.T253T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1552	TSP type-1 8.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGATGGTGACCTCCTGGTCTG	0.612000														10			6		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141081603	141081603	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141081603C>T	uc002tvj.1	-	80	13345	c.12373G>A	c.(12373-12375)Gaa>Aaa	p.E4125K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4125					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATATAATCTTCAAAGATATCG	0.289000										TSP Lung(27;0.18)				111			38		0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43579536	43579536	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43579536G>A	uc002ovr.3	-	2	851	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	227	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region		p.R227C(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGGTCACTGCGGCTGGCACTC	0.527000														447			39		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34663181	34663181	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34663181G>A	uc001bxt.3	+	1	1514	c.676G>A	c.(676-678)Ggc>Agc	p.G226S	C1orf94_uc001bxs.4_Missense_Mutation_p.G36S	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	36							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGAGGACAGGGGCCGCATCCT	0.542000														57			21		0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100376662	100376662	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:100376662C>T	uc001ygr.3	+	12	1449	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	EML1_uc010tww.2_Silent_p.I429I|EML1_uc001ygq.3_Silent_p.I460I|EML1_uc001ygs.3_Silent_p.I441I	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	441						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GTGGCAACATCTTAGTATGGG	0.358000														60			23		0	0	1	0	0
WNT6	7475	broad.mit.edu	37	2	219736279	219736279	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219736279C>T	uc002vjc.1	+	2	589	c.374C>T	c.(373-375)tCt>tTt	p.S125F		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 6 (WNT6), mRNA.	125					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGCCTGTTCTATGGGCGAG	0.741000														21			9		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183087	13183087	+	Silent	SNP	C	T	T	rs144171787		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:13183087C>T	uc010obg.2	-	1	1029	c.786G>A	c.(784-786)caG>caA	p.Q262Q		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	262						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										GGTTGTCCCCCTGATCTTCAT	0.468000														101			15		0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42815746	42815746	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:42815746C>T	uc010goq.3	+	8	1307	c.961C>T	c.(961-963)Ccc>Tcc	p.P321S	MX1_uc002yzh.3_Missense_Mutation_p.P321S|MX1_uc002yzi.3_Missense_Mutation_p.P321S	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	321					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GGCCACGGTTCCCTGCCTGGC	0.507000														135			40		0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147561322	147561322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:147561322C>T	uc003ikv.3	+	1	840	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	198					MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCACCTGAGTCCCGGGCTGGC	0.711000														10			4		0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3753941	3753941	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3753941G>A	uc001aky.2	-	8	1393	c.1034C>T	c.(1033-1035)cCt>cTt	p.P345L	CEP104_uc010nzm.1_Non-coding_Transcript|CEP104_uc001akz.3_Missense_Mutation_p.P345L	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	345						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						ATATGATGAAGGCTTTTCCTG	0.448000														42			18		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38886150	38886150	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38886150G>A	uc003jln.2	+	6	1251	c.849G>A	c.(847-849)ggG>ggA	p.G283G	OSMR_uc003jlm.2_Silent_p.G283G	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	283					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GATTTTCTGGGGAAAAGAAAC	0.333000														43			22		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50683829	50683829	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:50683829G>A	uc002lfe.2	+	7	1981	c.1365G>A	c.(1363-1365)gcG>gcA	p.A455A	DCC_uc010xdr.1_Silent_p.A303A|DCC_uc010dpf.2_Silent_p.A110A	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	455	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGCAGAAGCGAAAGGGAACA	0.502000														97			36		0	0	1	0	0
ENTPD2	954	broad.mit.edu	37	9	139945765	139945765	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139945765G>T	uc004ckw.2	-	3	498	c.444C>A	c.(442-444)acC>acA	p.T148T	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Silent_p.T148T	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	148						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGGGGTACTGGGTCAGTGTGT	0.582000														60			24		3.73988e-18	3.76003e-18	1	1	0
SLC4A1AP	22950	broad.mit.edu	37	2	27907940	27907940	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27907940C>T	uc002rlk.4	+	9	2194	c.1912C>T	c.(1912-1914)Cta>Tta	p.L638L		NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.	638						cytoplasm|nucleus	double-stranded RNA binding|protein binding	p.T637A(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CCCTCCAACTCTAATGAGAAT	0.408000														103			17		0	0	1	0	0
SNAI1	6615	broad.mit.edu	37	20	48600619	48600619	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:48600619C>T	uc002xuz.3	+	1	425	c.341C>T	c.(340-342)tCc>tTc	p.S114F		NM_005985	NP_005976	O95863	SNAI1_HUMAN	Homo sapiens snail homolog 1 (Drosophila) (SNAI1), mRNA.	114					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TCGTCCTTCTCCTCTACTTCA	0.632000														154			13		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046640	42046641	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:42046640_42046641GG>AA	uc001cgz.4	-	3	5041_5042	c.3828_3829CC>TT	c.(3826-3831)tccccc>tcTTcc	p.P1277S	HIVEP3_uc001cha.4_Missense_Mutation_p.P1277S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1277					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCTGTGCTGGGGGAGAGGCCAG	0.614000														49			5		0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139346559	139346559	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:139346559C>T	uc003etj.3	-	0	48	c.8G>A	c.(7-9)aGc>aAc	p.S3N	NMNAT3_uc010hul.3_Missense_Mutation_p.S3N|NMNAT3_uc003etk.3_Intron|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	3					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						AGGTATTCGGCTCTTCATCTT	0.522000														15			3		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430867	43430867	+	Splice_Site	SNP	C	T	T	rs145405049		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43430867C>T	uc002ovl.4	-	5	809	c.707_splice	c.e5-1	p.P236_splice	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Splice_Site_p.P115_splice	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	237				LNLLP -> IIVPV (in Ref. 3).	female pregnancy	extracellular region							Prostate(69;0.00682)				TGGGCAGCTTCGCTGTGTGAA	0.473000														282			59		0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981621	70981621	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:70981621G>A	uc003xym.3	-	1	677	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCAGGTAACAGAGAAGCATCC	0.562000														52			8		0	0	1	0	0
ARRDC4	91947	broad.mit.edu	37	15	98512567	98512567	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:98512567C>T	uc010bom.3	+	4	999	c.840C>T	c.(838-840)tcC>tcT	p.S280S	ARRDC4_uc002bui.4_Silent_p.S193S	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA.	280					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TTACTCCATCCATCCTGGATT	0.428000														59			60		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131908343	131908343	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:131908343G>A	uc003vra.4	-	8	2269	c.2040C>T	c.(2038-2040)gtC>gtT	p.V680V		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	680	PSI 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATGGGTGCAGACATGCCGGT	0.587000														22			8		0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39792036	39792036	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:39792036C>T	uc002xjp.1	+	8	929	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	PLCG1_uc002xjo.1_Missense_Mutation_p.R270C|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.3_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	270					T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGCTGTTGATCGCCTCCAGGT	0.602000														56			22		0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665659	20665659	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20665659C>T	uc010tlb.2	+	0	165	c.165C>T	c.(163-165)ttC>ttT	p.F55F		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCCTGGGCTTCCCTTGCCCCA	0.512000														55			19		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	107914328	107914329	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:107914328_107914329GG>AA	uc001tmk.1	+	1	1721_1722	c.1200_1201GG>AA	c.(1198-1203)ggggaa>ggAAaa	p.E401K	BTBD11_uc009zut.1_Missense_Mutation_p.E401K|BTBD11_uc001tmj.3_Missense_Mutation_p.E401K	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	401						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACAAGCCAGGGGAACTGCCCAT	0.550000														126			16		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110857886	110857886	+	Splice_Site	SNP	C	T	T	rs111267529		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:110857886C>T	uc001vqw.4	-	16	981	c.859_splice	c.e16-1	p.G287_splice		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	287	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CGGGTTTGCCCTGTAGAATAA	0.483000														175			41		0	0	1	0	0
FAM40A	85369	broad.mit.edu	37	1	110596312	110596312	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110596312C>T	uc001dza.1	+	20	2311	c.2292C>T	c.(2290-2292)ttC>ttT	p.F764F	FAM40A_uc001dyz.1_Silent_p.F669F|FAM40A_uc009wfp.1_Silent_p.F588F	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	Homo sapiens family with sequence similarity 40, member A (FAM40A), mRNA.	764						nucleus	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)	23		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		CTTGGGACTTCCAGGCAGAGG	0.582000											OREG0013647	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			46		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25572670	25572670	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:25572670G>A	uc002kwg.2	-	8	1752	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	CDH2_uc010xbn.1_Silent_p.F400F	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	431	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCTGGATGGCGAACCGTCCAG	0.527000														84			31		0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348996	30348996	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:30348996C>T	uc002hgu.3	+	0	842	c.831C>T	c.(829-831)tcC>tcT	p.S277S	LRRC37B_uc010wbx.2_Silent_p.S195S|LRRC37B_uc010csu.3_Silent_p.S277S	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	277						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ACATCCAGTCCTCTTCACTCC	0.552000														85			91		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408483	10408483	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10408483C>T	uc002gmo.3	-	20	2526	c.2432G>A	c.(2431-2433)aGa>aAa	p.R811K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	811	IQ.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTAATACCTTCTTTCCACCAT	0.418000														71			26		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7295530	7295530	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7295530C>T	uc001qss.3	+	9	2180	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	CLSTN3_uc001qsr.3_Missense_Mutation_p.R536C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	536					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GCGCTCAGGTCGCCTGGAGAG	0.587000														45			17		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135561028	135561028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:135561028C>T	uc003lbn.2	-	9	2499	c.2277G>A	c.(2275-2277)caG>caA	p.Q759Q	TRPC7_uc010jef.2_Silent_p.Q695Q|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.Q310Q|TRPC7_uc010jeh.2_Silent_p.Q698Q|TRPC7_uc010jei.2_Silent_p.Q643Q	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	759					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCATGCCAGCCTGGTAGCGAG	0.453000														18			10		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48389692	48389692	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48389692C>T	uc001rqu.3	-	8	801	c.620G>A	c.(619-621)gGa>gAa	p.G207E	COL2A1_uc001rqv.3_Missense_Mutation_p.G138E	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	207	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCCTCGAGGTCCCATGGGGCC	0.542000														62			31		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149477052	149477052	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149477052C>T	uc010lpk.3	+	10	1229	c.1229C>T	c.(1228-1230)tCc>tTc	p.S410F	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	410					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCAGGTTTCCCCTGCTGAG	0.582000														8			11		0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67219123	67219123	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67219123G>A	uc001olm.3	-	0	1078	c.1073C>T	c.(1072-1074)cCt>cTt	p.P358L	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	358						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GTTCACCTGAGGCTGGGCCAC	0.627000														38			22		0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41839448	41839448	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:41839448G>A	uc010lxb.3	-	4	1278	c.734C>T	c.(733-735)tCc>tTc	p.S245F	KAT6A_uc010lxc.3_Missense_Mutation_p.S245F|KAT6A_uc003xon.4_Missense_Mutation_p.S245F|KAT6A_uc010lxd.3_Missense_Mutation_p.S245F	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	245					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TAGTTCAGGGGAAAACTTTAA	0.413000														24			10		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	107914285	107914285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:107914285G>A	uc001tmk.1	+	1	1678	c.1157G>A	c.(1156-1158)aGc>aAc	p.S386N	BTBD11_uc009zut.1_Missense_Mutation_p.S386N|BTBD11_uc001tmj.3_Missense_Mutation_p.S386N	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	386						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTACCAGACAGCCTGAATCTT	0.527000														125			30		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106693	55106693	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55106693G>A	uc002qgh.1	+	4	669	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.E163K	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	163	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGGAGAAGATGAACACCCACA	0.587000														145			56		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881631	26881631	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:26881631C>T	uc003jgs.1	-	11	2153	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K	CDH9_uc011cnv.1_Missense_Mutation_p.E255K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	662					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D661Y(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCGCCGCCTTCATCGTTGTAG	0.438000														129			72		0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23731354	23731354	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:23731354G>A	uc002wtp.3	-	0	221	c.150C>T	c.(148-150)ttC>ttT	p.F50F		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	50						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CGCTGATGGCGAAGTGAAGGG	0.572000														76			11		0	0	1	0	0
C19orf55	148137	broad.mit.edu	37	19	36255969	36255969	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36255969C>T	uc021usz.1	+	6	734	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	221	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCCTCAGCCCCAGCGATGC	0.627000														213			56		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52571623	52571623	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:52571623G>T	uc002lfs.3	-	11	1146	c.974C>A	c.(973-975)tCc>tAc	p.S325Y	CCDC68_uc002lft.3_Missense_Mutation_p.S325Y	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	325										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TAAATAAGGGGAAACACCTTC	0.378000														58			15		1.02788e-11	1.03188e-11	1	1	0
IL33	90865	broad.mit.edu	37	9	6254512	6254512	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:6254512G>A	uc003zjt.3	+	6	649	c.571G>A	c.(571-573)Gac>Aac	p.D191N	IL33_uc011lmg.2_Missense_Mutation_p.D149N|IL33_uc011lmh.2_Missense_Mutation_p.D65N|IL33_uc022bdf.1_Missense_Mutation_p.D149N	NM_033439	NP_254274	O95760	IL33_HUMAN	Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.	191					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		TCCTACAAAAGACTTCTGGTT	0.328000														41			6		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37251039	37251039	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:37251039C>T	uc022abv.1	-	12	1748	c.1038G>A	c.(1036-1038)gaG>gaA	p.E346E	ELMO1_uc011kbc.2_Silent_p.E250E|ELMO1_uc003tfk.2_Silent_p.E346E|ELMO1_uc010kxg.2_Silent_p.E346E	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	346	ELMO.				Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACTTGCGTTTCTCCATGCTGC	0.488000														63			21		0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962660	41962660	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:41962660C>T	uc004aca.4	-	2		c.849G>A								Homo sapiens keratinocyte growth factor-like protein 2 (KGFLP2), non-coding RNA.																		ATTTCCCCTCCGTTGTTTGTC	0.363000														47			5		0	0	1	0	0
HOXA5	3202	broad.mit.edu	37	7	27182802	27182802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:27182802C>T	uc003syn.2	-	0	486	c.425G>A	c.(424-426)gGg>gAg	p.G142E	HOXA-AS3_uc003syr.2_Intron	NM_019102	NP_061975	P20719	HXA5_HUMAN	Homo sapiens homeobox A5 (HOXA5), mRNA.	142					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CGTGCCAACCCCCTCTCTGCT	0.736000														60			24		0	0	1	0	0
SEPW1	6415	broad.mit.edu	37	19	48284381	48284381	+	Missense_Mutation	SNP	C	T	T	rs11551813		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:48284381C>T	uc021uwp.1	+	3	326	c.125C>T	c.(124-126)cCc>cTc	p.P42L	SEPW1_uc002pho.1_5'Flank	NM_003009	NP_003000	P63302	SELW_HUMAN	Homo sapiens selenoprotein W, 1 (SEPW1), mRNA.	42					cell redox homeostasis	cytoplasm	selenium binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		all cancers(93;0.000291)|OV - Ovarian serous cystadenocarcinoma(262;0.000305)|Epithelial(262;0.0146)|GBM - Glioblastoma multiforme(486;0.0273)		GAGGGAACTCCCCAGGCCACC	0.572000														227			39		0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133654618	133654618	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:133654618C>T	uc003eqa.4	-	13	2088	c.1814_splice	c.e13+1	p.R605_splice		NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	605					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GGGCCCTCACCTGTCTCGGAG	0.597000														35			19		0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37146532	37146532	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:37146532C>T	uc002xiw.3	+	8	1563	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	RALGAPB_uc010zvz.1_Missense_Mutation_p.R436W|RALGAPB_uc002xix.3_Missense_Mutation_p.R436W|RALGAPB_uc002xiy.1_Missense_Mutation_p.R436W|RALGAPB_uc002xiz.3_Missense_Mutation_p.R214W|RALGAPB_uc002xja.1_Missense_Mutation_p.R163W	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	436					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity	p.R436R(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GCCTGCCCCTCGGAGACCAAA	0.468000														75			41		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66944318	66944318	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:66944318G>A	uc002eql.3	-	14	2206	c.2012C>T	c.(2011-2013)cCc>cTc	p.P671L	CDH16_uc010cdy.3_Missense_Mutation_p.P649L|CDH16_uc021tjx.1_Intron|CDH16_uc002eqm.3_Missense_Mutation_p.P574L	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	671	Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTATTGGGAGGGCACAGGGGC	0.632000														81			28		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64756126	64756126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:64756126C>T	uc003jtp.3	-	3	1316	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	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.	168					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)		TTTAAAGGTTCGATAAAATAC	0.313000														128			22		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186006591	186006591	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:186006591G>A	uc003fqa.3	-	5	989	c.452C>T	c.(451-453)tCt>tTt	p.S151F	DGKG_uc003fqb.3_Missense_Mutation_p.S151F|DGKG_uc003fqc.3_Missense_Mutation_p.S151F|DGKG_uc011brx.2_Missense_Mutation_p.S151F	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	151	Poly-Ser.				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)	CGAGCTTGAAGACCGAGGGAC	0.552000														264			110		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793123	21793124	+	Missense_Mutation	DNP	AC	CA	CA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21793123_21793124AC>CA	uc001wag.3	+	13	2109_2110	c.2109_2110AC>CA	c.(2107-2112)atacac>atCAac	p.H704N	RPGRIP1_uc001wah.3_Missense_Mutation_p.H346N|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.H169N|RPGRIP1_uc001wak.3_Missense_Mutation_p.H179N|RPGRIP1_uc010aim.3_Missense_Mutation_p.H87N|RPGRIP1_uc001wal.3_Missense_Mutation_p.H63N|RPGRIP1_uc001wam.3_Missense_Mutation_p.H21N	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	704					response to stimulus|visual perception	cilium		p.I703I(1)|p.I319I(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGCTTGACATACACCAGGCCAT	0.530000														128			50		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857960	9857960	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:9857960G>A	uc010uym.2	-	13	3751	c.3441C>T	c.(3439-3441)ttC>ttT	p.F1147F	GRIN2A_uc002czo.4_Silent_p.F1147F|GRIN2A_uc010uyn.2_Silent_p.F990F|GRIN2A_uc002czr.4_Silent_p.F1147F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1147					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGGGTCCGGGAAGTCCACGT	0.527000														112			32		0	0	1	0	0
CLRN3	119467	broad.mit.edu	37	10	129682033	129682033	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:129682033G>A	uc001lka.1	-	1	499	c.336C>T	c.(334-336)ttC>ttT	p.F112F	CLRN3_uc001ljz.1_Silent_p.F44F	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	Homo sapiens clarin 3 (CLRN3), mRNA.	112						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				TGCTGTTGTAGAAGGTAAACC	0.532000														90			44		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105421084	105421084	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105421084C>T	uc010axc.1	-	6	824	c.704G>A	c.(703-705)gGa>gAa	p.G235E	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.G135E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	235						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCCCATCTCCTTCCAGAGT	0.537000														24			14		0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1963716	1963716	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:1963716C>T	uc010gaj.3	-	1	257	c.15G>A	c.(13-15)ggG>ggA	p.G5G	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Silent_p.G5G|PDYN_uc021vzt.1_Silent_p.G5G|PDYN_uc021vzu.1_Silent_p.G5G|PDYN_uc002wfv.3_Silent_p.G5G	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	5					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						CCAGGACCAGCCCCTGCCAGG	0.567000														42			8		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186541233	186541233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:186541233C>T	uc003iyg.3	-	13	2950	c.2918G>A	c.(2917-2919)gGa>gAa	p.G973E	SORBS2_uc003iyh.3_Missense_Mutation_p.G583E|SORBS2_uc011ckw.2_Missense_Mutation_p.G420E|SORBS2_uc003iyi.3_Missense_Mutation_p.G490E|SORBS2_uc011ckx.2_Missense_Mutation_p.G425E|SORBS2_uc003iyk.3_Missense_Mutation_p.G403E|SORBS2_uc003iym.3_Missense_Mutation_p.G959E|SORBS2_uc003iyl.3_Missense_Mutation_p.G859E|SORBS2_uc003iyn.1_Missense_Mutation_p.G450E|SORBS2_uc011cku.2_Missense_Mutation_p.G251E|SORBS2_uc011ckv.2_Missense_Mutation_p.G763E|SORBS2_uc003iyd.3_Missense_Mutation_p.G558E|SORBS2_uc003iye.3_Missense_Mutation_p.G432E|SORBS2_uc003iya.3_Missense_Mutation_p.G379E|SORBS2_uc003iyb.3_Missense_Mutation_p.G332E|SORBS2_uc003iyc.3_Missense_Mutation_p.G312E|SORBS2_uc003iyf.3_Missense_Mutation_p.G395E|SORBS2_uc003iyo.1_Missense_Mutation_p.G308E	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	859	SH3 2.					Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TTCTGGAGTTCCTCTTCTTTC	0.438000														232			94		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583248	82583248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82583248C>T	uc003uhx.2	-	4	7310	c.7021G>A	c.(7021-7023)Gat>Aat	p.D2341N	PCLO_uc003uhv.2_Missense_Mutation_p.D2341N|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2272	Poly-Pro.|Pro-rich.				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						GGTGGGTGATCAAACACGGTT	0.423000														100			38		0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	769447	769447	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:769447C>T	uc010krz.1	+	1	763	c.743C>T	c.(742-744)tCc>tTc	p.S248F	PRKAR1B_uc021zyj.1_5'Flank|PRKAR1B_uc021zyk.1_5'Flank|PRKAR1B_uc003siw.2_5'Flank|HEATR2_uc003siz.2_Missense_Mutation_p.S116F	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	248							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GACGTGCTTTCCCATTTTGCT	0.572000														37			18		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482341	142482341	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142482341G>A	uc011ksq.2	+	4	804	c.721G>A	c.(721-723)Gac>Aac	p.D241N	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CTGGATTAAGGACACCATAGC	0.502000														106			28		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39678528	39678528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39678528C>T	uc003xnj.3	-	5	581	c.506G>A	c.(505-507)aGc>aAc	p.S169N	ADAM2_uc003xnk.3_Missense_Mutation_p.S169N|ADAM2_uc011lck.2_Missense_Mutation_p.S169N|ADAM2_uc003xnl.3_Missense_Mutation_p.S169N	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	169					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)		TACCTCTACGCTTTGTAATTT	0.294000														75			31		0	0	1	0	0
PPP1R1A	5502	broad.mit.edu	37	12	54976578	54976578	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54976578G>A	uc001sgg.2	-	4	355	c.184_splice	c.e4-1	p.S62_splice		NM_006741	NP_006732	Q13522	PPR1A_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1A (PPP1R1A), mRNA.	62					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						TGCCAAAGTGGACTGTGAAGG	0.597000														43			25		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580655	7580655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7580655G>A	uc003mxp.1	+	22	4511	c.4232G>A	c.(4231-4233)aGg>aAg	p.R1411K	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1411	Central fibrous rod domain.				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)		GAAATAAAGAGGCTGAAGAAC	0.498000														52			32		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64981565	64981565	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:64981565G>A	uc002eoi.3	-	12	2766	c.2332C>T	c.(2332-2334)Cgt>Tgt	p.R778C	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_3'UTR|CDH11_uc010vin.2_Missense_Mutation_p.R652C	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	778					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTCTTAAAACGAGGTCCCCAG	0.458000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				140			18		0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93637034	93637034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:93637034G>A	uc004aqz.3	+	8	1289	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	SYK_uc004ara.3_Missense_Mutation_p.E339K|SYK_uc004arb.3_Missense_Mutation_p.E339K|SYK_uc004arc.3_Missense_Mutation_p.E362K|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	362	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CAGGCCCAAGGAGGTTTACCT	0.527000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									210			45		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25839905	25839905	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:25839905G>A	uc001isj.3	+	6	1465	c.1405_splice	c.e6-1	p.V469_splice		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	469						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CATCCCACAGGTTGTTATTTT	0.408000														85			28		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54308037	54308037	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54308037C>T	uc021smr.1	+	0	2937	c.2937C>T	c.(2935-2937)gcC>gcT	p.A979A	UNC13C_uc021sms.1_Silent_p.A979A	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	979					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)		CTTTAAGGGCCTATAAAAAGC	0.383000														11			4		0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	633625	633625	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:633625C>T	uc002cho.3	+	9	2412	c.2274C>T	c.(2272-2274)gtC>gtT	p.V758V	PIGQ_uc010bqw.3_3'UTR|PIGQ_uc002chn.3_3'UTR|PIGQ_uc010uui.2_3'UTR|PIGQ_uc002chp.3_Silent_p.V328V|PIGQ_uc010uuj.2_Missense_Mutation_p.R54Q	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	758					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTGGAGAGGTCGCTTTGTGAA	0.647000														52			24		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39089647	39089647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39089647G>A	uc003xmt.4	+	14	1872	c.1627G>A	c.(1627-1629)Gga>Aga	p.G543R	ADAM32_uc011lch.2_Missense_Mutation_p.G444R|ADAM32_uc003xmu.4_Missense_Mutation_p.G437R|ADAM32_uc003xmv.3_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	543					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGTGTTCTGTGGATGGAGGTA	0.338000														73			15		0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68910518	68910518	+	Silent	SNP	G	A	A	rs62642583		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:68910518G>A	uc001dei.1	-	3	348	c.294C>T	c.(292-294)atC>atT	p.I98I		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	98					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CTGTTATGACGATCCTTTTCT	0.423000														53			23		0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	994600	994600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:994600C>T	uc021qss.1	+	18	6053	c.5410C>T	c.(5410-5412)Ctc>Ttc	p.L1804F	WNK1_uc001qio.4_Missense_Mutation_p.L1544F|WNK1_uc021qst.1_Missense_Mutation_p.L1796F|WNK1_uc001qip.4_Missense_Mutation_p.L1297F|WNK1_uc001qir.4_Missense_Mutation_p.L717F	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1544					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.L1544I(1)|p.L1804I(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGCTTTCTCCCTCTCTGCACC	0.478000														395			101		0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29595317	29595317	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29595317G>A	uc003nmt.4	-	5	939	c.603C>T	c.(601-603)agC>agT	p.S201S	GABBR1_uc003nmp.4_Silent_p.S84S|GABBR1_uc003nms.4_Silent_p.S84S|GABBR1_uc003nmu.4_Silent_p.S139S|GABBR1_uc011dlr.2_Silent_p.S24S|GABBR1_uc011dls.1_Silent_p.S201S	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	201					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TGTCCCTGCGGCTATTCACGT	0.677000														11			8		0	0	1	0	0
C1orf114	57821	broad.mit.edu	37	1	169390881	169390881	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169390881G>A	uc001gga.1	-	2	956	c.788C>T	c.(787-789)tCt>tTt	p.S263F	C1orf114_uc001gfz.1_Missense_Mutation_p.S263F|C1orf114_uc009wvq.1_Missense_Mutation_p.S263F|C1orf114_uc001ggb.3_Missense_Mutation_p.S263F|C1orf114_uc001ggc.1_Missense_Mutation_p.S263F	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	263										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					GCCACTGACAGAGGAGTTGGA	0.458000														198			27		0	0	1	0	0
C1orf187	374946	broad.mit.edu	37	1	11766499	11766499	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11766499C>T	uc001asr.1	+	1	324	c.184C>T	c.(184-186)Ccg>Tcg	p.P62S		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	Homo sapiens chromosome 1 open reading frame 187 (C1orf187), mRNA.	62					Wnt receptor signaling pathway|axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway	extracellular region				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(2)	15	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		CCGGCGGGGCCCGGGCAAGAA	0.721000														15			9		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105168911	105168911	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:105168911G>A	uc004emd.3	+	18	3503	c.3200G>A	c.(3199-3201)cGa>cAa	p.R1067Q	NRK_uc010npc.1_Missense_Mutation_p.R735Q	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1067							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAGTCGTTCGAACCAGTGAA	0.493000										HNSCC(51;0.14)				18			36		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938959	2938959	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:2938959G>A	uc001ajz.3	+	0	914	c.709G>A	c.(709-711)Gag>Aag	p.E237K		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	237						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GAGGCCGGAGGAGGTCCTGAG	0.652000														60			18		0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101865215	101865215	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:101865215C>T	uc002bxa.2	-	17	2528	c.2214G>A	c.(2212-2214)ggG>ggA	p.G738G	PCSK6_uc010bpd.3_Silent_p.G535G|PCSK6_uc002bwy.3_Silent_p.G738G|PCSK6_uc010bpe.3_Silent_p.G722G|PCSK6_uc002bxb.2_Silent_p.G725G	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	739	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGCTGTGTCCCCAAAGTAGC	0.657000														23			26		0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12832322	12832322	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:12832322G>A	uc002gnr.4	+	6	868	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	ARHGAP44_uc010vvk.2_Missense_Mutation_p.E181K|ARHGAP44_uc010vvl.2_Missense_Mutation_p.E181K|ARHGAP44_uc002gns.4_Intron|ARHGAP44_uc010vvm.2_Missense_Mutation_p.E181K|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	181	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TGCCCTCAGGGAAGAAATGGA	0.552000														14			10		0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182597411	182597411	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:182597411C>T	uc003flb.3	+	19	2637	c.2380C>T	c.(2380-2382)Cgt>Tgt	p.R794C	ATP11B_uc003flc.3_Missense_Mutation_p.R378C|ATP11B_uc011bqm.1_Missense_Mutation_p.R98C|ATP11B_uc010hxf.1_5'UTR	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	794					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATTATGCTGTCGTATGGCTCC	0.358000														104			17		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17051295	17051295	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:17051295C>T	uc011awc.2	+	2	529	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PLCL2_uc010het.1_Missense_Mutation_p.R27C|PLCL2_uc011awd.2_Missense_Mutation_p.R27C	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	153	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAAAAAGGTTCGCTCCAACTC	0.418000														66			21		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41582036	41582036	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:41582036C>T	uc003xok.3	-	6	733	c.649G>A	c.(649-651)Gag>Aag	p.E217K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.E217K|ANK1_uc003xoj.3_Missense_Mutation_p.E217K|ANK1_uc003xol.3_Missense_Mutation_p.E217K|ANK1_uc003xom.3_Missense_Mutation_p.E250K	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	217	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTGAGGTTCTCGTAGTGAGCC	0.567000														5			3		0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226923820	226923820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:226923820G>A	uc010pvo.2	-	1	1680	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F	ITPKB_uc001hqh.3_Missense_Mutation_p.S447F	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	447							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.R447P(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CAGCGTTGGGGACCCTCCCTC	0.706000														70			27		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535791	69535791	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69535791C>T	uc021xow.1	-	0	704	c.546G>A	c.(544-546)gaG>gaA	p.E182E		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	182					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CACCATTCTTCTCAAATGTGT	0.398000														214			86		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46299162	46299162	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46299162C>T	uc002pdm.3	-	5	2290	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K	RSPH6A_uc002pdl.3_Missense_Mutation_p.E443K	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	707	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcctcgccctcctcc	0.577000														86			55		0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935259	151935259	+	Missense_Mutation	SNP	G	A	A	rs35981027		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151935259G>A	uc022chl.1	-	0	908	c.908C>T	c.(907-909)cCc>cTc	p.P303L	MAGEA3_uc004fgp.3_Missense_Mutation_p.P303L	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	303	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTCATGCAGGGGTGGGTAGGA	0.577000														128			21		0	0	1	0	0
BIRC2	329	broad.mit.edu	37	11	102220766	102220766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102220766C>T	uc001pgy.3	+	1	1580	c.181C>T	c.(181-183)Cct>Tct	p.P61S	BIRC2_uc010ruq.2_Missense_Mutation_p.P12S|BIRC2_uc010rur.2_Missense_Mutation_p.P61S	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	Homo sapiens baculoviral IAP repeat containing 2 (BIRC2), mRNA.	61					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		CGCCGGGGTGCCTGTCTCAGA	0.428000														124			26		0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85446507	85446507	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:85446507C>T	uc003pkl.1	-	7	1720	c.1720G>A	c.(1720-1722)Gga>Aga	p.G574R	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	574					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G574G(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AGGTGCACTCCTTCCACAGGG	0.517000														26			22		0	0	1	0	0
ZNF788	388507	broad.mit.edu	37	19	12223856	12223856	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12223856G>A	uc002mtd.3	+	2	2131	c.1494G>A	c.(1492-1494)ggG>ggA	p.G498G						Homo sapiens zinc finger family member 788 (ZNF788), non-coding RNA.											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						CTCACATTGGGGAGAAACCCT	0.418000														34			5		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121957514	121957514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:121957514C>T	uc003idq.1	-	3	2139	c.1612G>A	c.(1612-1614)Ggc>Agc	p.G538S		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	538	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TAAGATTTGCCAGGCTGAAGA	0.403000														116			49		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974126	35974126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:35974126C>T	uc004ddj.3	+	7	1289	c.1223C>T	c.(1222-1224)cCt>cTt	p.P408L	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	408										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ACAGGACTTCCTGTTTTACTA	0.373000														61			35		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13764672	13764672	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:13764672G>A	uc001rbt.2	-	7	1946	c.1767C>T	c.(1765-1767)ctC>ctT	p.L589L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	589					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGCCATCAGCGAGGCACCTGT	0.483000														92			19		0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184075040	184075040	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:184075040G>A	uc003foi.3	-	8	1037	c.913C>T	c.(913-915)Ctc>Ttc	p.L305F	CLCN2_uc003foh.3_5'Flank|CLCN2_uc010hya.2_Missense_Mutation_p.L305F|CLCN2_uc011brl.2_Missense_Mutation_p.L305F|CLCN2_uc011brm.2_Missense_Mutation_p.L261F|CLCN2_uc011brn.1_Missense_Mutation_p.L305F	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	305						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTTTTGAAGAGGGCTGTAATA	0.612000														59			27		0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99060038	99060038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:99060038C>T	uc001tfz.3	+	8	1842	c.1265C>T	c.(1264-1266)tCt>tTt	p.S422F	APAF1_uc001tfy.3_Missense_Mutation_p.S411F|APAF1_uc001tga.3_Missense_Mutation_p.S411F|APAF1_uc001tgb.3_Missense_Mutation_p.S422F|APAF1_uc001tgc.3_Intron	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	422					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GTAAATAAGTCTCTTTTATTC	0.353000														96			40		0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45050878	45050878	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45050878C>T	uc001zuf.2	+	4	1534	c.639C>T	c.(637-639)ttC>ttT	p.F213F	TRIM69_uc001zug.1_Silent_p.F213F|TRIM69_uc001zuh.1_Silent_p.F54F|TRIM69_uc001zui.1_Silent_p.F9F|TRIM69_uc010bdy.1_Silent_p.F9F	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	213					apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TGCATCAGTTCCTGCACAGCA	0.458000														51			20		0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079453	31079453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31079453C>T	uc003nsk.1	-	1	683	c.683G>A	c.(682-684)gGa>gAa	p.G228E		NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	228	Gly-rich.									endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GGGCCTCGTTCCCCAACCAGT	0.592000														65			8		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57423014	57423014	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57423014G>A	uc001smw.4	-	26	3147	c.2907C>T	c.(2905-2907)ttC>ttT	p.F969F	MYO1A_uc010sqz.2_Silent_p.F807F|MYO1A_uc009zpd.3_Silent_p.F969F	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	969					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGACCAGCAGGAAGTCCCCCT	0.512000														68			33		0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25365205	25365205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:25365205C>T	uc003xep.1	+	14	3500	c.3023C>T	c.(3022-3024)tCt>tTt	p.S1008F	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.S993F|CDCA2_uc003xer.1_Missense_Mutation_p.S671F	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	1008					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GGAGAGAGCTCTCTGACTGCC	0.433000														90			33		0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29194912	29194912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:29194912G>A	uc003xhm.3	-	3	1288	c.816C>T	c.(814-816)tgC>tgT	p.C272C	DUSP4_uc003xhl.3_Silent_p.C181C	NM_001394	NP_001385	Q13115	DUS4_HUMAN	Homo sapiens dual specificity phosphatase 4 (DUSP4), transcript variant 1, mRNA.	272	Tyrosine-protein phosphatase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|endoderm formation|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CGCGCCCACGGCAGTCCTTCA	0.667000														74			21		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131849943	131849943	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:131849943C>T	uc003vra.4	-	22	4532	c.4303G>A	c.(4303-4305)Gag>Aag	p.E1435K		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1435						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGCATCTTCTCAGCCACTGAC	0.527000														56			30		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91795728	91795728	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:91795728C>T	uc002bqv.3	+	4	1653	c.762C>T	c.(760-762)gcC>gcT	p.A254A	SV2B_uc002bqt.3_Silent_p.A254A|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.A103A	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	254					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CTGCCATGGCCTGGAGCATCA	0.542000														59			13		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69758135	69758135	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:69758135G>A	uc010kak.3	+	12	2442	c.2166G>A	c.(2164-2166)atG>atA	p.M722I	BAI3_uc003pev.4_Missense_Mutation_p.M722I	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	722					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P721A(2)|p.M722I(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACTTTCCAATGAAAGGACGGA	0.368000														62			36		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21215530	21215530	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21215530G>A	uc010bwn.1	-	8	992	c.910C>T	c.(910-912)Cct>Tct	p.P304S	ZP2_uc002dii.2_Missense_Mutation_p.P265S|ZP2_uc010bwo.3_Missense_Mutation_p.P304S	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	265					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)		CAGGTCACAGGATCTAGAAGG	0.468000														75			21		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98528268	98528268	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:98528268C>T	uc003upp.3	+	24	3615	c.3406C>T	c.(3406-3408)Ccc>Tcc	p.P1136S	TRRAP_uc011kis.2_Missense_Mutation_p.P1136S|TRRAP_uc003upr.3_Missense_Mutation_p.P828S	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1136					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGCCAGCTGCCCCTGTTTTC	0.483000														210			97		0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117884974	117884974	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:117884974G>A	uc001lcj.3	-	5	1226	c.528C>T	c.(526-528)acC>acT	p.T176T	GFRA1_uc001lci.3_Silent_p.T171T|GFRA1_uc009xyr.3_Silent_p.T171T	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	176					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	p.S176fs*64(1)		endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGGTGCACGGGGTGATGTACG	0.587000														40			4		0	0	1	0	0
TAS2R20	259295	broad.mit.edu	37	12	11150314	11150314	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:11150314G>A	uc001qzm.2	-	0	161	c.161C>T	c.(160-162)tCc>tTc	p.S54F	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176889	NP_795370	P59543	T2R20_HUMAN	Homo sapiens taste receptor, type 2, member 20 (TAS2R20), mRNA.	54					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						ACCAACTCTGGAGACTGCCAG	0.348000														68			34		0	0	1	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20470032	20470032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:20470032G>A	uc009vpp.1	+	2	361	c.263G>A	c.(262-264)gGt>gAt	p.G88D		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA.	45					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	p.G88S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GTGGGCTACGGTTGCTACTGT	0.637000														73			16		0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201257	71201257	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71201257G>A	uc003hff.3	+	0	587	c.501G>A	c.(499-501)aaG>aaA	p.K167K	CABS1_uc021xoz.1_Silent_p.K167K	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	167						flagellum	calcium ion binding	p.K167K(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCACACTAAAGGACAGCAGTG	0.433000														49			16		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156875149	156875149	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156875149G>A	uc001fqj.1	+	3	356	c.240G>A	c.(238-240)gtG>gtA	p.V80V	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.	80	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)					GTCAGGTGGTGAAGACGGACC	0.657000														38			8		0	0	1	0	0
FBLIM1	54751	broad.mit.edu	37	1	16091602	16091602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16091602C>T	uc001axd.1	+	3	567	c.124C>T	c.(124-126)Ccc>Tcc	p.P42S	FBLIM1_uc001axe.1_Missense_Mutation_p.P42S|FBLIM1_uc001axg.1_Missense_Mutation_p.P42S|FBLIM1_uc001axh.1_Missense_Mutation_p.P42S|FBLIM1_uc001axi.1_Missense_Mutation_p.P42S	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	42	Filamin-binding.|Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	p.P42H(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)		GCGTGGCCGCCCCTGGGAGGC	0.706000														51			25		0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123215752	123215752	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:123215752G>A	uc004bkf.3	-	20	2956	c.2775C>T	c.(2773-2775)ctC>ctT	p.L925L	CDK5RAP2_uc004bke.3_Silent_p.L210L|CDK5RAP2_uc004bkg.3_Silent_p.L925L|CDK5RAP2_uc011lxw.2_Silent_p.L190L|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Silent_p.L190L|CDK5RAP2_uc011lya.2_Silent_p.L190L|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.3_Silent_p.L692L	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	925					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TAATACCAGGGAGGGAAAGGA	0.453000														90			36		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952916	54952916	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:54952916C>T	uc003dhl.3	-	2	742	c.608G>A	c.(607-609)gGa>gAa	p.G203E	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	203	LRRCT.					integral to membrane		p.G202W(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GTCTGTTAGTCCCCCTTTAAA	0.453000														38			5		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234072440	234072440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234072440C>T	uc010zmo.2	+	10	1394	c.1241C>T	c.(1240-1242)cCc>cTc	p.P414L	INPP5D_uc010zmp.2_Missense_Mutation_p.P413L	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	443					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)		GACTACATCCCCCATGACATT	0.557000														138			31		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35857148	35857148	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35857148C>T	uc003jjs.3	+	0	158	c.69C>T	c.(67-69)ggC>ggT	p.G23G	IL7R_uc011coo.2_Silent_p.G23G|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	23					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GAGAAAGTGGCTATGCTCAAA	0.383000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							166			80		0	0	1	0	0
TMC6	11322	broad.mit.edu	37	17	76118722	76118722	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76118722G>A	uc002juj.1	-	8	1317	c.1191C>T	c.(1189-1191)tcC>tcT	p.S397S	TMC6_uc002jui.1_Silent_p.S36S|TMC6_uc010dhf.1_Silent_p.S230S|TMC6_uc002juk.2_Silent_p.S397S|TMC6_uc010dhg.1_Silent_p.S397S|TMC6_uc002jul.1_Silent_p.S397S|TMC6_uc002jum.4_Silent_p.S188S|TMC6_uc002jun.4_Silent_p.S397S|TMC6_uc002juo.2_Silent_p.S170S	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 2, mRNA.	397						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCTGGAGGCGGGAGGCCCGCT	0.662000														18			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069180	9069180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9069180G>A	uc002mkp.3	-	2	18470	c.18266C>T	c.(18265-18267)tCa>tTa	p.S6089L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6091	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						CTCTGTAGTTGAGTTCATCAC	0.488000														30			15		0	0	1	0	0
HOXC4	3221	broad.mit.edu	37	12	54448806	54448806	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54448806C>T	uc001seu.3	+	3	1292	c.612C>T	c.(610-612)ttC>ttT	p.F204F	HOXC4_uc001sex.3_Silent_p.F204F	NM_014620	NP_705897	P09017	HXC4_HUMAN	Homo sapiens homeobox C4 (HOXC4), transcript variant 1, mRNA.	204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						AAATCTGGTTCCAAAACCGTC	0.567000														25			15		0	0	1	0	0
SGPP2	130367	broad.mit.edu	37	2	223423135	223423135	+	Missense_Mutation	SNP	G	A	A	rs141548793	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:223423135G>A	uc010zlo.2	+	4	718	c.718G>A	c.(718-720)Gac>Aac	p.D240N	SGPP2_uc010zlp.2_Missense_Mutation_p.D112N	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.	240					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		GACCTTCATCGACTGCCTGGA	0.537000														131			48		0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	708645	708645	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:708645G>A	uc002cii.1	+	22	2941	c.2887G>A	c.(2887-2889)Ggc>Agc	p.G963S	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.G490S|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Missense_Mutation_p.G137S|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	963										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCCAGCCCAGGCCCCCAGGT	0.697000														24			9		0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59224523	59224523	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59224523C>T	uc010rku.2	+	0	90	c.90C>T	c.(88-90)gtC>gtT	p.V30V		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGTTTGTGGTCTTCTTTGCTG	0.463000														120			41		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72344498	72344498	+	Missense_Mutation	SNP	C	T	T	rs77006793	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:72344498C>T	uc002llw.2	+	0	1576	c.1523C>T	c.(1522-1524)cCt>cTt	p.P508L	ZNF407_uc010xfc.2_Missense_Mutation_p.P508L|ZNF407_uc010dqu.2_Missense_Mutation_p.P508L|ZNF407_uc002llu.2_Missense_Mutation_p.P507L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGTGCCCGTCCTCCGGACTCC	0.572000														95			37		0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289598	98289599	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:98289598_98289599CC>TT	uc003yhy.3	-	0	578_579	c.474_475GG>AA	c.(472-477)aggggg>agAAgg	p.G159R		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	159					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					ACCTGAGGCCCCCTCCCCGCGG	0.644000														112			48		0	0	1	0	0
CD3D	915	broad.mit.edu	37	11	118211092	118211092	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118211092C>T	uc001pss.1	-	1	409	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	CD3D_uc001pst.1_Missense_Mutation_p.R91Q|CD3D_uc021qrf.1_Intron	NM_000732	NP_000723	P04234	CD3D_HUMAN	Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA.	91					T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GCACGTACTTCGATAATGAAC	0.463000														55			14		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77762534	77762534	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:77762534C>T	uc003yau.2	+	8	4287	c.3900C>T	c.(3898-3900)gcC>gcT	p.A1300A	ZFHX4_uc003yaw.1_Silent_p.A1255A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1255						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)			CAGCAGCTGCCTCTGAGAAAT	0.478000										HNSCC(33;0.089)				14			10		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129185811	129185811	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:129185811C>T	uc003eml.3	+	8	1001	c.795C>T	c.(793-795)atC>atT	p.I265I	IFT122_uc003emm.3_Silent_p.I214I|IFT122_uc003emn.3_Intron|IFT122_uc003emo.3_Intron|IFT122_uc003emp.3_Silent_p.I64I|IFT122_uc010htc.3_Intron|IFT122_uc011bky.2_Intron|IFT122_uc011bla.2_Intron|IFT122_uc003emr.3_Intron|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Intron	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	214					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						TTCAGGAAATCCCTTCCACTC	0.483000														103			28		0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188956533	188956533	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:188956533G>A	uc003frv.2	+	8	1541	c.314G>A	c.(313-315)tGg>tAg	p.W105*	TPRG1_uc003frw.2_Nonsense_Mutation_p.W105*	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	105										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		ATAGACCACTGGAACAATGAG	0.413000														91			45		0	0	1	0	0
TAF1A	9015	broad.mit.edu	37	1	222737456	222737456	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:222737456C>T	uc009xdz.2	-	7	1115	c.906G>A	c.(904-906)caG>caA	p.Q302Q	TAF1A_uc009xdy.1_5'UTR|TAF1A_uc001hni.2_Silent_p.Q188Q|TAF1A_uc001hnj.3_Silent_p.Q302Q	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	302					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		ATGGTACAATCTGATACAAAA	0.279000														79			29		0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114053792	114053792	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:114053792C>T	uc001kzr.1	+	5	644	c.644C>T	c.(643-645)cCc>cTc	p.P215L		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	Homo sapiens tectorin beta (TECTB), mRNA.	215	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TTCATGTATCCCTTGCAGTGG	0.478000														40			11		0	0	1	0	0
FUT4	2526	broad.mit.edu	37	11	94277910	94277911	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:94277910_94277911CC>TT	uc001pez.3	+	0	894_895	c.611_612CC>TT	c.(610-612)gcc>gTT	p.A204V	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.2_5'Flank	NM_002033	NP_002024	P22083	FUT4_HUMAN	Homo sapiens fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) (FUT4), mRNA.	204					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGCGATAGCGCCCCGAGGCCGC	0.743000														8			3		0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46062951	46062951	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46062951G>A	uc003cpe.3	-	2	713	c.489C>T	c.(487-489)ctC>ctT	p.L163L	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Silent_p.L163L|XCR1_uc021wwx.1_Silent_p.L163L	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	163					G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response	integral to plasma membrane	chemokine receptor activity	p.I162T(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGATGGTGTCGAGGATGGAGG	0.602000														19			10		0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42168793	42168793	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42168793C>T	uc002xkn.1	+	12	1314	c.1183C>T	c.(1183-1185)Ctc>Ttc	p.L395F	L3MBTL1_uc010zwh.2_Missense_Mutation_p.L704F|L3MBTL1_uc002xkm.3_Missense_Mutation_p.L636F|L3MBTL1_uc010ggl.3_Missense_Mutation_p.L641F|L3MBTL1_uc002xkl.3_Missense_Mutation_p.L636F|L3MBTL1_uc002xko.3_Missense_Mutation_p.L288F|L3MBTL1_uc002xkp.3_Missense_Mutation_p.L24F|SGK2_uc002xkq.1_5'UTR	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	636					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			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CTTTCCAGCCCTCACGCCCGA	0.612000														49			12		0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96104083	96104083	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:96104083C>T	uc003hto.3	-	13	2769	c.2416G>A	c.(2416-2418)Ggg>Agg	p.G806R		NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	806					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAGATCTGCCCTTCTCCTTCC	0.522000														79			31		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158609717	158609717	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158609717G>A	uc001fst.1	-	33	5017	c.4818C>T	c.(4816-4818)gcC>gcT	p.A1606A		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1606					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTGACGACTGGCCTCATTGA	0.473000														116			42		0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230841825	230841825	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:230841825C>T	uc001hty.4	-	2	1486	c.978G>A	c.(976-978)caG>caA	p.Q326Q	AGT_uc009xff.3_Silent_p.Q298Q	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	326					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	AGAAGTTGTCCTGGATGTCAC	0.592000														101			26		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7619939	7619939	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7619939C>T	uc010xjq.2	+	23	3065	c.2825C>T	c.(2824-2826)tCg>tTg	p.S942L	PNPLA6_uc002mgq.2_Missense_Mutation_p.S894L|PNPLA6_uc010xjp.2_Missense_Mutation_p.S867L|PNPLA6_uc002mgr.2_Missense_Mutation_p.S894L|PNPLA6_uc002mgs.3_Missense_Mutation_p.S932L	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	933					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CGCCTCTTTTCGCGCCGCAGC	0.731000														8			6		0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099443	133099443	+	Silent	SNP	G	A	A	rs138205990	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:133099443G>A	uc003epi.3	+	3	1158	c.888G>A	c.(886-888)ggG>ggA	p.G296G	TMEM108_uc003eph.3_Silent_p.G296G|TMEM108_uc003epj.1_Silent_p.G296G|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	296						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCCAAGGAGGGACACCAGATG	0.662000														42			17		0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50679123	50679123	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50679123G>A	uc001jhs.4	-	16	3122	c.2968C>T	c.(2968-2970)Cca>Tca	p.P990S	ERCC6_uc009xod.3_Missense_Mutation_p.P150S|ERCC6_uc010qgr.2_Missense_Mutation_p.P360S|ERCC6_uc001jhr.4_Missense_Mutation_p.P358S	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	990	Helicase C-terminal.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding	p.D989Y(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTTTGTTTTGGGTCTTTTAGC	0.348000								Direct reversal of damage;Nucleotide excision repair (NER)						119			24		0	0	1	0	0
P2RY12	64805	broad.mit.edu	37	3	151056190	151056190	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151056190G>A	uc003eyw.1	-	1	660	c.444C>T	c.(442-444)atC>atT	p.I148I	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Silent_p.I148I|P2RY12_uc021xga.1_Silent_p.I148I	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 12 (P2RY12), transcript variant 2, mRNA.	148					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TGAATGCCCAGATGACAACAG	0.438000														84			31		0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032327	30032327	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:30032327C>T	uc021qfi.1	-	0	1899	c.1899G>A	c.(1897-1899)ggG>ggA	p.G633G	KCNA4_uc001msk.3_Silent_p.G633G	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	633						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.K632N(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CACTGTCATCCCCCTTTCCCT	0.478000														135			31		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76744460	76744460	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:76744460G>A	uc003pik.1	-	2	476	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	116					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCAGGGATGCGATCCAGAAAG	0.502000														59			12		0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120889255	120889255	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:120889255C>T	uc002tmg.3	+	17	1754	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	EPB41L5_uc010fll.3_Silent_p.S521S|EPB41L5_uc010flm.3_Silent_p.S325S	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	521						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CTTTGCTGTCCCCTCGATCCA	0.413000														71			20		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169412861	169412861	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:169412861C>T	uc003maf.3	+	28	3008	c.2928C>T	c.(2926-2928)ttC>ttT	p.F976F	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.F468F	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	976	Interaction with CRKL.				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			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)			TCATCATGTTCAAGGACCTCA	0.468000														140			50		0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59962312	59962312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:59962312G>A	uc002izn.3	-	15	2139	c.2063C>T	c.(2062-2064)cCt>cTt	p.P688L	INTS2_uc002izm.3_Missense_Mutation_p.P680L	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	688					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GAATTTGATAGGAATCTGATC	0.333000														24			3		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56196429	56196429	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:56196429C>T	uc002lhj.4	-	5	5609	c.5395G>A	c.(5395-5397)Gaa>Aaa	p.E1799K	ALPK2_uc002lhk.1_Missense_Mutation_p.E1130K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1799	Ig-like 2.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCAGAGTGTTCAGGGAACATC	0.368000														108			16		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64595811	64595811	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:64595811C>T	uc003jtp.3	-	10	2184	c.1370_splice	c.e10+1	p.D457_splice	ADAMTS6_uc003jto.3_Splice_Site|ADAMTS6_uc003jtq.3_Splice_Site|ADAMTS6_uc003jtr.1_Splice_Site_p.D78_splice	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	457	Peptidase M12B.				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)		AGATTACTTACTCTAGAAAGC	0.413000														57			23		0	0	1	0	0
H2BFM	286436	broad.mit.edu	37	X	103294923	103294923	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:103294923G>A	uc004els.2	+	0	408	c.380G>A	c.(379-381)gGg>gAg	p.G127E		NM_001164416	NP_001157888			Homo sapiens H2B histone family, member M (H2BFM), mRNA.											endometrium(1)|lung(1)|ovary(1)	3						CTGCTGCCGGGGAAGATGGGC	0.647000														3			3		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566491	45566491	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:45566491C>T	uc010dnv.3	-	2	1490	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	ZBTB7C_uc002ldb.3_Missense_Mutation_p.D330N|ZBTB7C_uc010dnu.3_Missense_Mutation_p.D339N|ZBTB7C_uc010dnw.3_Missense_Mutation_p.D330N|ZBTB7C_uc010dnx.1_Missense_Mutation_p.D330N|ZBTB7C_uc010dny.1_Missense_Mutation_p.D330N|ZBTB7C_uc010dnz.1_Missense_Mutation_p.D352N|ZBTB7C_uc010doi.1_Missense_Mutation_p.D330N|ZBTB7C_uc010doj.1_Missense_Mutation_p.D339N|ZBTB7C_uc010dok.1_Missense_Mutation_p.D379N|ZBTB7C_uc010dol.1_Missense_Mutation_p.D339N|ZBTB7C_uc010doa.1_Missense_Mutation_p.D352N|ZBTB7C_uc010dob.1_Missense_Mutation_p.D330N|ZBTB7C_uc010doc.1_Missense_Mutation_p.D339N|ZBTB7C_uc010dod.1_Missense_Mutation_p.D352N|ZBTB7C_uc010doe.1_Missense_Mutation_p.D330N|ZBTB7C_uc010dof.1_Missense_Mutation_p.D330N|ZBTB7C_uc010dog.1_Missense_Mutation_p.D330N|ZBTB7C_uc010doh.1_Missense_Mutation_p.D339N|ZBTB7C_uc010dom.1_Missense_Mutation_p.D339N|ZBTB7C_uc010don.1_Missense_Mutation_p.D338N|ZBTB7C_uc010dop.1_Missense_Mutation_p.D330N|ZBTB7C_uc010doq.1_Missense_Mutation_p.D339N|ZBTB7C_uc010dor.1_Missense_Mutation_p.D352N|ZBTB7C_uc010dos.1_Missense_Mutation_p.D330N|ZBTB7C_uc010dot.1_Missense_Mutation_p.D330N|ZBTB7C_uc010doo.1_Missense_Mutation_p.D330N|ZBTB7C_uc010dou.1_Missense_Mutation_p.D339N	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	330						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCACCGTAGTCGTTCTCCGCC	0.637000														66			33		0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50048801	50048801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:50048801G>A	uc002xwd.3	-	8	2745	c.2525C>T	c.(2524-2526)aCc>aTc	p.T842I	NFATC2_uc002xwc.3_Missense_Mutation_p.T842I|NFATC2_uc010zyv.2_Missense_Mutation_p.T623I|NFATC2_uc010zyw.2_Missense_Mutation_p.T623I|NFATC2_uc002xwe.3_Missense_Mutation_p.T822I|NFATC2_uc010zyx.2_Missense_Mutation_p.T822I|NFATC2_uc010zyy.2_Missense_Mutation_p.T623I|NFATC2_uc010zyz.2_Missense_Mutation_p.T623I	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	842					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCCAGGTCTGGTGGTGCCTGG	0.617000														74			10		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94700010	94700010	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94700010C>T	uc001ycs.1	+	5	691	c.537C>T	c.(535-537)tcC>tcT	p.S179S		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	179						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CACTTGTTTCCAAGGCACAAC	0.328000														108			33		0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130479928	130479928	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130479928G>A	uc004brq.1	+	3	370	c.303G>A	c.(301-303)cgG>cgA	p.R101R	PTRH1_uc004brm.3_5'Flank|PTRH1_uc004bro.3_5'Flank|PTRH1_uc010mxm.3_5'Flank|PTRH1_uc011mah.2_Intron|TTC16_uc011mai.1_Intron|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_5'Flank	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	101							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						ATGCCTTACGGGCTGAGGCCT	0.627000														41			24		0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20434538	20434538	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:20434538C>T	uc003suu.3	+	7	1781	c.1076C>T	c.(1075-1077)cCa>cTa	p.P359L	ITGB8_uc011jyh.2_Missense_Mutation_p.P224L|ITGB8_uc003sut.3_Missense_Mutation_p.P359L	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	359	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CCCCTCTTGCCAGGCACCATT	0.328000														63			8		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529546	57529546	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:57529546G>A	uc011kdi.1	+	3	1491	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATTCATACTGGAGAGAAACCC	0.358000														10			8		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932427	83932427	+	Missense_Mutation	SNP	C	T	T	rs149687703		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83932427C>T	uc002bjt.1	-	3	1664	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	BNC1_uc010uos.1_Missense_Mutation_p.E514K	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	526					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AATGGCATTTCGTTTGAAATG	0.488000														124			35		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232581315	232581315	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:232581315G>A	uc001hvg.3	-	8	3471	c.3313C>T	c.(3313-3315)Cga>Tga	p.R1105*	SIPA1L2_uc001hvf.3_Nonsense_Mutation_p.R179*	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1105					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAGGTGCTTCGAGGAATGGCA	0.637000														54			16		0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36271373	36271373	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:36271373C>T	uc011cow.2	-	1	625	c.132G>A	c.(130-132)aaG>aaA	p.K44K	RANBP3L_uc003jkh.3_Silent_p.K44K	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	44					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TTTGTTCTCCCTTTTCAAAAA	0.303000														69			10		0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49866927	49866927	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49866927G>A	uc003cxs.1	-	13	1357	c.1251C>T	c.(1249-1251)ttC>ttT	p.F417F	TRAIP_uc010hla.1_Silent_p.F318F	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	417	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAGCCCATCGAAGCCTGTCC	0.562000														50			20		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1255475	1255475	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1255475G>T	uc003jcb.1	-	13	3142	c.3084C>A	c.(3082-3084)aaC>aaA	p.N1028K	TERT_uc003jbz.1_Missense_Mutation_p.N224K|TERT_uc003jcc.1_Missense_Mutation_p.N965K|TERT_uc003jca.1_Missense_Mutation_p.N1016K|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Non-coding_Transcript|TERT_uc021xwa.1_Missense_Mutation_p.P91T|TERT_uc021xwb.1_Missense_Mutation_p.N180K	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	1028	CTE.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AAAATGTGGGGTTCTTCCAAA	0.557000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					48			8		1.06961e-07	1.07245e-07	1	1	0
ROCK1P1	727758	broad.mit.edu	37	18	118427	118427	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:118427C>T	uc002kke.3	+	3		c.861C>T								Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 (ROCK1P1), non-coding RNA.																		TTCGTGCTTCCCCTTGAACGC	0.388000														241			23		0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17507464	17507464	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:17507464G>A	uc003wxv.3	-	12	3866	c.3392C>T	c.(3391-3393)cCt>cTt	p.P1131L	MTUS1_uc003wxt.3_Missense_Mutation_p.P378L|MTUS1_uc011kyg.2_Missense_Mutation_p.P276L|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.P1077L|MTUS1_uc003wxs.3_Missense_Mutation_p.P297L	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	1131						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CATGATCTGAGGATTTTTCTG	0.353000														84			34		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1162237	1162237	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1162237C>T	uc021qbr.1	+	14	1793	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	573	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGATGACTTCCGGACCCTCA	0.637000														17			8		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101488063	101488063	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:101488063G>A	uc010svm.1	+	17	2303	c.1731G>A	c.(1729-1731)acG>acA	p.T577T	ANO4_uc001thw.2_Silent_p.T542T|ANO4_uc001thx.2_Silent_p.T577T|ANO4_uc001thy.2_Silent_p.T97T	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	577						chloride channel complex	chloride channel activity	p.I576I(1)		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						TGCTTCTGACGAATTTAGGTG	0.328000										HNSCC(74;0.22)				56			26		0	0	1	0	0
SFPQ	6421	broad.mit.edu	37	1	35652632	35652632	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:35652632G>A	uc001bys.3	-	8	2049	c.1956C>T	c.(1954-1956)acC>acT	p.T652T		NM_005066	NP_005057	P23246	SFPQ_HUMAN	Homo sapiens splicing factor proline/glutamine-rich (SFPQ), mRNA.	652					DNA recombination|DNA repair|alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|nucleotide binding|protein binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				AACCACTCATGGTTGCTGGTG	0.453000			T	TFE3	papillary renal cell									67			39		0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168725844	168725844	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:168725844G>A	uc021vsc.1	+	0	295	c.295G>A	c.(295-297)Gag>Aag	p.E99K	B3GALT1_uc002udz.1_Missense_Mutation_p.E99K	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	99					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						GGCAATCAGAGAGACGTGGGG	0.463000														79			24		0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159092037	159092037	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:159092037G>C	uc003ipq.4	-	1	898	c.491C>G	c.(490-492)cCt>cGt	p.P164R	AK096792_uc003ipu.1_5'Flank|FAM198B_uc003ipp.4_Missense_Mutation_p.P164R|FAM198B_uc003ipr.4_Missense_Mutation_p.P164R|FAM198B_uc003ips.3_Missense_Mutation_p.P164R|AK126266_uc003ipt.1_Non-coding_Transcript	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	164						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						AGCGTACCCAGGTGCTACAGC	0.632000											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			21		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61498026	61498026	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61498026C>T	uc002jal.4	+	24	4706	c.4683C>T	c.(4681-4683)ccC>ccT	p.P1561P	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Silent_p.P672P	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1561							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTGGTTCACCCGTGCGCTATC	0.582000														29			10		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180891	65180891	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:65180891G>A	uc002lke.1	-	1	2209	c.985C>T	c.(985-987)Ctt>Ttt	p.L329F	LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Missense_Mutation_p.L329F	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	319						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CCAGGTAAAAGGGTGGCATAA	0.383000														123			15		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25664416	25664416	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:25664416G>A	uc003grr.3	+	2	283	c.202G>A	c.(202-204)Gac>Aac	p.D68N	SLC34A2_uc003grs.3_Missense_Mutation_p.D67N|SLC34A2_uc010iev.3_Missense_Mutation_p.D67N	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	68					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.D68G(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGAGGTGGATGACCCCTGGAA	0.522000			T	ROS1	NSCLC									79			31		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94048819	94048819	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94048819G>A	uc003ung.1	+	33	2506	c.2035G>A	c.(2035-2037)Ggt>Agt	p.G679S	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	679			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)	GGGTGCTCCTGGTGCTGTAGG	0.453000										HNSCC(75;0.22)				56			23		0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67694215	67694215	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67694215G>A	uc002etq.4	-	0	504	c.167C>T	c.(166-168)cCa>cTa	p.P56L	ACD_uc002etp.4_Missense_Mutation_p.P56L|ACD_uc002etr.4_Missense_Mutation_p.P56L|ACD_uc010vjt.1_Missense_Mutation_p.P46L|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	56					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTCCTTCGCTGGGCGGGGCCG	0.741000														32			5		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31593601	31593601	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31593601C>T	uc003nvb.4	+	7	1041	c.792C>T	c.(790-792)ccC>ccT	p.P264P	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Silent_p.P264P|PRRC2A_uc003nve.3_3'UTR	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	264	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCCCTCCGCCCTATGGACCCC	0.577000														74			16		0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258362	56258362	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56258362G>A	uc001nix.1	-	0	485	c.485C>T	c.(484-486)aCc>aTc	p.T162I	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TAGGTTGTAGGTCCACATGGT	0.507000														103			32		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75265490	75265490	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75265490C>T	uc001xqj.4	+	4	3614	c.3490C>T	c.(3490-3492)Cgt>Tgt	p.R1164C	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	969	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.R969C(1)|p.R1164C(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGATTTTGGTCGTGATAGAGG	0.542000														55			8		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240635690	240635690	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240635690G>A	uc010pye.2	+	17	5316	c.5091G>A	c.(5089-5091)gaG>gaA	p.E1697E	FMN2_uc010pyd.2_Silent_p.E1693E|FMN2_uc010pyg.2_Silent_p.E289E|FMN2_uc001hyr.3_Non-coding_Transcript	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1693	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGCCGAAGAGGTGTGTAGAC	0.333000														74			27		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557911	210557911	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:210557911C>T	uc002vde.1	+	6	1265	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	MAP2_uc002vdc.1_Silent_p.P339P|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.P335P	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	339					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAACATCGCCCTTTGCCCCTG	0.438000														81			30		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87040428	87040429	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:87040428_87040429GA>AT	uc009wcs.3	+	9	1717_1718	c.1673_1674GA>AT	c.(1672-1674)gga>gAT	p.G558D	CLCA4_uc009wct.3_Missense_Mutation_p.G321D|CLCA4_uc009wcu.3_Missense_Mutation_p.G378D	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	558						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			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)		AGTATTCCAGGAACTGCAAAGG	0.381000														63			12		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117791663	117791663	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117791663C>T	uc004bjj.4	-	24	6557	c.6145G>A	c.(6145-6147)Gac>Aac	p.D2049N	TNC_uc010mvf.3_Missense_Mutation_p.D1776N|TNC_uc022bmj.1_Missense_Mutation_p.D1686N	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	2049	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCTCTGCGGTCCCCAAATCCA	0.468000														88			25		0	0	1	0	0
CA13	377677	broad.mit.edu	37	8	86163062	86163062	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:86163062C>T	uc003ydg.2	+	1	473	c.131C>T	c.(130-132)tCc>tTc	p.S44F	CA13_uc003ydf.1_Non-coding_Transcript	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	Homo sapiens carbonic anhydrase XIII (CA13), mRNA.	44					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						TATGACTCTTCCCTCCGACCA	0.398000														140			66		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123593738	123593738	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:123593738C>T	uc003vle.3	+	2	553	c.114C>T	c.(112-114)ttC>ttT	p.F38F	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Silent_p.F38F|SPAM1_uc022aks.1_Silent_p.F38F|SPAM1_uc003vlf.4_Silent_p.F38F|SPAM1_uc010lku.3_Silent_p.F38F	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	38					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	p.N37T(1)		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)	CTCTGAATTTCAGAGCACCTC	0.413000														58			6		0	0	1	0	0
TNFRSF9	3604	broad.mit.edu	37	1	8000004	8000004	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:8000004G>A	uc001aot.3	-	2	312	c.51C>T	c.(49-51)aaC>aaT	p.N17N		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	17					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCTCAAAGTTGAGGACCA	0.443000														41			18		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43495431	43495431	+	Missense_Mutation	SNP	C	T	T	rs150037117	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43495431C>T	uc001zrb.4	-	10	2051	c.1751G>A	c.(1750-1752)cGa>cAa	p.R584Q	EPB42_uc001zqz.4_Missense_Mutation_p.R221Q|EPB42_uc001zra.4_Missense_Mutation_p.R554Q|EPB42_uc010udm.2_Missense_Mutation_p.R476Q	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	554					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GGGTGGGTTTCGCTCAAAATT	0.478000														79			24		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325627	79325627	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:79325627G>A	uc010mpk.3	-	7	1687	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	PRUNE2_uc022bih.1_Silent_p.F343F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	521					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.F521L(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGTTGGGGAAGAAGTCATCTG	0.512000														21			9		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48802271	48802271	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:48802271G>A	uc001zwx.2	-	13	2079	c.1684C>T	c.(1684-1686)Cat>Tat	p.H562Y		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	562	EGF-like 8; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGTGTAACATGAAAGCCCGCA	0.408000														66			25		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196964899	196964899	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:196964899G>A	uc001gts.4	+	4	788	c.660G>A	c.(658-660)aaG>aaA	p.K220K		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	220	Sushi 4.				complement activation, alternative pathway	extracellular region		p.K220N(2)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTGAAGTTAAGGAGATAAGAA	0.338000														63			24		0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150878191	150878191	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150878191G>A	uc003wjm.1	-	2	1200	c.939C>T	c.(937-939)ctC>ctT	p.L313L	ASB10_uc003wjl.1_Silent_p.L313L|ASB10_uc003wjn.1_Silent_p.L298L	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	313					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACAGGACAGGAGCAGCTCCA	0.672000														30			4		0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78398979	78398979	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:78398979G>A	uc001dic.4	+	9	1363	c.1066G>A	c.(1066-1068)Gac>Aac	p.D356N	NEXN_uc001dia.3_Missense_Mutation_p.D342N|NEXN_uc009wcb.1_Missense_Mutation_p.D278N|NEXN_uc001dib.4_Missense_Mutation_p.D292N|NEXN_uc001did.1_Missense_Mutation_p.D266N|NEXN_uc001dif.1_Missense_Mutation_p.D248N|NEXN_uc001dig.4_5'UTR	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	356	Glu-rich.				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)		AGTAGATGATGACTCCCCAGA	0.299000														35			4		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97082867	97082867	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:97082867G>A	uc004aup.1	-	4	1012	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	331	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				TCCTTGCTGGGAAGGTACACT	0.687000														13			6		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280766	152280766	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152280766G>A	uc001ezu.1	-	2	6632	c.6596C>T	c.(6595-6597)tCa>tTa	p.S2199L		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2199	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCATCTCCTGATTGTTCCTT	0.542000									Ichthyosis					395			174		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768049	57768050	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:57768049_57768050CC>TT	uc002yan.3	+	0	1975_1976	c.1975_1976CC>TT	c.(1975-1977)cct>TTt	p.P659F		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	659						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTGGGCTTTCCTCTGCAGAAA	0.579000														62			20		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325151	152325151	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152325151C>T	uc001ezw.4	-	2	5184	c.5111G>A	c.(5110-5112)aGa>aAa	p.R1704K	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1704							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)			GTGGGCATGTCTAGTGGTATC	0.493000														389			116		0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248085211	248085211	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248085211G>A	uc010pzc.2	+	0	892	c.892G>A	c.(892-894)Gcc>Acc	p.A298T		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G297R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTGAAGGGAGCCCTGACAAG	0.453000														129			51		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71485759	71485759	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:71485759C>T	uc001xmo.2	+	11	3476	c.3030C>T	c.(3028-3030)gtC>gtT	p.V1010V	PCNX_uc010are.1_Silent_p.V899V|PCNX_uc010arf.1_5'UTR	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1010						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGTTAGCTGTCATCCTGGCTA	0.398000														130			49		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172834990	172834990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:172834990C>T	uc003fin.4	-	1	716	c.532G>A	c.(532-534)Gta>Ata	p.V178I		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	178					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTTAAGGCTACCTGAAGCCAT	0.438000														162			19		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040194	107040194	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:107040194C>T	uc010ywi.1	-	19	4286	c.4229G>A	c.(4228-4230)aGa>aAa	p.R1410K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1410	RanBD1 2.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGGAGTTATTCTGTGATTGGC	0.373000														280			113		0	0	1	0	0
FGF3	2248	broad.mit.edu	37	11	69625426	69625426	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:69625426C>T	uc001oph.3	-	2	858	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_005247	NP_005238	P11487	FGF3_HUMAN	Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.	123					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	p.H122Q(1)|p.H122N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			TAGCCCAGCTCGTGGATCCGC	0.647000														69			20		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32035662	32035662	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32035662G>A	uc003nzl.2	-	17	6522	c.6320C>T	c.(6319-6321)tCc>tTc	p.S2107F		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2179	Fibronectin type-III 13.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGAGTCAGGGGAGGATCCTGT	0.682000														57			36		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137928454	137928454	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:137928454G>A	uc002tva.1	+	5	1576	c.1576G>A	c.(1576-1578)Gga>Aga	p.G526R	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G416R	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.G526R(1)|p.G557R(1)		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)		CCCTGATCATGGAAAATGTGG	0.522000														31			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599285	179599285	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179599285C>T	uc021vsy.1	-	48	11759	c.11534G>A	c.(11533-11535)gGa>gAa	p.G3845E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G506E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4772							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)			AGCATTTGTTCCTCTCACTAT	0.363000														134			30		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130841476	130841476	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:130841476C>T	uc001uik.3	+	12	1689	c.1418C>T	c.(1417-1419)cCa>cTa	p.P473L	PIWIL1_uc001uij.2_Missense_Mutation_p.P473L	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	473					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GATTACAATCCACAATTTGCA	0.368000														33			35		0	0	1	0	0
ENTPD2	954	broad.mit.edu	37	9	139944953	139944953	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139944953G>A	uc004ckw.2	-	5	866	c.812C>T	c.(811-813)tCc>tTc	p.S271F	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Missense_Mutation_p.S271F	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	271						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CACTTGGGTGGAAAAGCCCCT	0.642000											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			11		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21098223	21098223	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21098223G>A	uc010vbe.2	-	18	2824	c.2824C>T	c.(2824-2826)Ccc>Tcc	p.P942S		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	942	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGAGGATGGGAATGTACTGC	0.512000														208			51		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82834003	82834003	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:82834003G>A	uc003kii.3	+	7	5537	c.5181G>A	c.(5179-5181)gaG>gaA	p.E1727E	VCAN_uc003kij.3_Silent_p.E740E|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.E391E	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1727	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAAGGAAGGAGGAGGAGGGAA	0.403000														93			37		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027567	37027567	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:37027567C>T	uc004ddl.2	+	0	1136	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	362										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCAGAGACTCGCGTATCTCC	0.647000														59			39		0	0	1	0	0
RG9MTD2	93587	broad.mit.edu	37	4	100472066	100472066	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:100472066G>A	uc003huy.3	-	6	1040	c.727C>T	c.(727-729)Cga>Tga	p.R243*	RG9MTD2_uc003huz.4_Nonsense_Mutation_p.R243*|RG9MTD2_uc003hva.4_Nonsense_Mutation_p.R243*	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA.	243							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2)	19				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		AAAACTTTTCGACTATTCATC	0.348000														27			10		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96702058	96702058	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96702058G>A	uc001kka.4	+	2	466	c.441G>A	c.(439-441)gaG>gaA	p.E147E	CYP2C9_uc009xut.3_Silent_p.E147E|CYP2C9_uc001kjz.3_Silent_p.E147E	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	147					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GTGTTCAAGAGGAAGCCCGCT	0.502000														150			29		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22132409	22132409	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:22132409G>A	uc010vbq.2	+	12	1333	c.1237G>A	c.(1237-1239)Gtc>Atc	p.V413I	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.V400I	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	413						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GTGGCTTAAGGTCAATGGTCT	0.512000														76			10		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085016	17085016	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17085016G>C	uc010ock.2	-	10	1459	c.1459C>G	c.(1459-1461)Cgc>Ggc	p.R487G	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.R61G					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CCAGCCACGCGCAGCTTGGAA	0.602000														116			10		0	0	1	0	0
MPP4	58538	broad.mit.edu	37	2	202552063	202552063	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:202552063G>A	uc002uyk.4	-	4	519	c.311C>T	c.(310-312)tCc>tTc	p.S104F	MPP4_uc010ftj.3_Missense_Mutation_p.S104F|MPP4_uc010zhq.2_Missense_Mutation_p.S104F|MPP4_uc010zht.2_Intron|MPP4_uc010zhr.2_Missense_Mutation_p.S104F|MPP4_uc010zhs.2_Missense_Mutation_p.S104F|MPP4_uc002uyj.4_Missense_Mutation_p.S104F|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.S104F|MPP4_uc002uym.1_Missense_Mutation_p.S117F|MPP4_uc002uyn.3_Missense_Mutation_p.S104F	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	104	L27 2.					cytoplasm	protein binding			kidney(1)|lung(11)	12						GATCTCAGGGGAAGTAGGGGT	0.413000														9			3		0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73681055	73681055	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:73681055G>A	uc001ouo.3	+	7	1598	c.847G>A	c.(847-849)Gac>Aac	p.D283N		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	283					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					ATTGCCGGAGGACCCCACTAA	0.552000														144			67		0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598022	62598022	+	Missense_Mutation	SNP	G	A	A	rs140764494	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62598022G>A	uc002yhl.1	-	4	560	c.506C>T	c.(505-507)cCt>cTt	p.P169L		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTTGGAGGCAGGCAGGGGTCG	0.622000														79			22		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499567	104499567	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104499567C>T	uc004bbp.2	-	0	1296	c.695G>A	c.(694-696)aGt>aAt	p.S232N	GRIN3A_uc004bbq.1_Missense_Mutation_p.S232N	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	232					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding	p.E231E(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TCTCACCTGACTCTCCCGTGG	0.602000														34			13		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558038	140558038	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140558038G>A	uc011dai.2	+	0	668	c.423G>A	c.(421-423)gtG>gtA	p.V141V	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	141	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATGTTGGTGAAAGTATCAG	0.413000														105			33		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72941367	72941367	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:72941367G>A	uc001xna.4	+	9	1176	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	RGS6_uc021rvv.1_Missense_Mutation_p.R183Q|RGS6_uc010ttn.2_Missense_Mutation_p.R218Q|RGS6_uc021rvw.1_Missense_Mutation_p.R218Q|RGS6_uc021rvx.1_Missense_Mutation_p.R218Q|RGS6_uc021rvy.1_Missense_Mutation_p.R218Q|RGS6_uc021rvz.1_Missense_Mutation_p.R218Q|RGS6_uc001xmy.4_Missense_Mutation_p.R218Q|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.R218Q|RGS6_uc021rwa.1_Missense_Mutation_p.R218Q|RGS6_uc021rwb.1_Missense_Mutation_p.R218Q|RGS6_uc010ttp.1_Missense_Mutation_p.R149Q|RGS6_uc021rwc.1_Missense_Mutation_p.R79Q	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	218					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ATGGATATCCGAAAATGTCGA	0.363000														51			26		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102376371	102376371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:102376371C>T	uc003pqp.4	+	12	2242	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L	GRIK2_uc010kcw.3_Missense_Mutation_p.S650L|GRIK2_uc003pqo.4_Missense_Mutation_p.S650L|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	650					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	p.S650S(1)		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)	ATCATTTCTTCGTATACTGCT	0.448000														31			29		0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100443816	100443816	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:100443816G>A	uc003huw.3	+	2	649	c.287G>A	c.(286-288)gGa>gAa	p.G96E	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	96										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CCTGTAAGAGGAATGTCGCCA	0.507000														85			24		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50959019	50959019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50959019G>A	uc009xog.3	-	5	877	c.843C>T	c.(841-843)ttC>ttT	p.F281F	OGDHL_uc001jie.3_Silent_p.F254F|OGDHL_uc010qgt.2_Silent_p.F197F|OGDHL_uc010qgu.2_Silent_p.F45F|OGDHL_uc009xoh.2_Silent_p.F45F	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	254					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.I281L(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TCCGGGCCAGGAAGTCTTCAA	0.567000														10			4		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124380660	124380660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124380660G>A	uc001lgk.1	+	40	5091	c.4985G>A	c.(4984-4986)gGa>gAa	p.G1662E	DMBT1_uc001lgl.1_Missense_Mutation_p.G1652E|DMBT1_uc001lgm.1_Missense_Mutation_p.G1034E|DMBT1_uc021qaf.1_Missense_Mutation_p.G1662E|DMBT1_uc021qag.1_Missense_Mutation_p.G1652E|DMBT1_uc021qah.1_Missense_Mutation_p.G1034E|DMBT1_uc009xzz.1_Missense_Mutation_p.G1662E|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.G365E|DMBT1_uc009yac.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1662	SRCR 13.				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.W1661C(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)				GGCTCCTGGGGAACCGTGTGT	0.592000														324			117		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3673312	3673312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3673312G>A	uc002wja.3	-	14	3886	c.3886C>T	c.(3886-3888)Cac>Tac	p.H1296Y	SIGLEC1_uc002wiz.4_Missense_Mutation_p.H1296Y|SIGLEC1_uc002wjb.1_5'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1296	Ig-like C2-type 13.				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						CGACCGTTGTGGTACCAAGTA	0.647000														36			14		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70961825	70961825	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:70961825G>A	uc003pfg.4	-	27	2029	c.1870C>T	c.(1870-1872)Cct>Tct	p.P624S	COL9A1_uc003pfe.4_Missense_Mutation_p.P197S|COL9A1_uc003pff.4_Missense_Mutation_p.P381S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	624	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ATACTCACAGGAAGCCCCTGG	0.483000														110			56		0	0	1	0	0
ENO1	2023	broad.mit.edu	37	1	8924024	8924025	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:8924024_8924025GG>AT	uc001apj.2	-	8	1514_1515	c.992_993CC>AT	c.(991-993)gcc>gAT	p.A331D	ENO1_uc001api.2_Missense_Mutation_p.A238D|ENO1_uc009vml.2_Missense_Mutation_p.A331D	NM_001428	NP_001188412	P06733	ENOA_HUMAN	Homo sapiens enolase 1, (alpha) (ENO1), transcript variant 1, mRNA.	331					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TCTCGTTCACGGCCTTGGCGAT	0.564000														212			79		0	0	1	0	0
SPTLC2	9517	broad.mit.edu	37	14	78021720	78021720	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:78021720G>A	uc001xub.3	-	7	1287	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S		NM_004863	NP_004854	O15270	SPTC2_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 2 (SPTLC2), mRNA.	367						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.P367P(1)		kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACATCCTCGGGATCCAGGCCA	0.512000														139			77		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300147	18300147	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:18300147G>A	uc002zng.4	-	25	5633	c.5280C>T	c.(5278-5280)tgC>tgT	p.C1760C	MICAL3_uc011agl.2_Silent_p.C1676C|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1760						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGGTGCTGGGGCAGGACTTGT	0.637000														17			15		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173517593	173517593	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:173517593C>T	uc001giz.2	-	11	1819	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	SLC9C2_uc009wwe.2_Missense_Mutation_p.E24K|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	466					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AAAATTTTTTCTGTTTTAAAT	0.348000														60			22		0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72338444	72338444	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:72338444C>T	uc010iic.3	+	13	1777	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C	SLC4A4_uc003hfy.3_Missense_Mutation_p.R554C|SLC4A4_uc010iib.3_Missense_Mutation_p.R554C|SLC4A4_uc003hfz.3_Missense_Mutation_p.R554C|SLC4A4_uc003hgc.4_Missense_Mutation_p.R510C|SLC4A4_uc010iid.3_Intron|SLC4A4_uc003hga.2_Missense_Mutation_p.R432C|SLC4A4_uc003hgb.3_Missense_Mutation_p.R510C	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	554			R -> H (in pRTA-OA; mistargeting and altered function).			basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTTGGAGTTTCGCCTTTGGAT	0.408000														223			94		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127340602	127340602	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:127340602C>T	uc003ejp.3	+	15	2758	c.2701C>T	c.(2701-2703)Ctg>Ttg	p.L901L	MCM2_uc011bkm.2_Silent_p.L771L|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Silent_p.L854L	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	901					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GAAAATGATCCTGCAGCAGTT	0.493000														49			18		0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14577496	14577496	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:14577496C>T	uc001rbw.3	+	1	805	c.647C>T	c.(646-648)cCt>cTt	p.P216L	ATF7IP_uc010shs.1_Missense_Mutation_p.P216L|ATF7IP_uc001rbu.3_Missense_Mutation_p.P216L|ATF7IP_uc001rbv.1_Missense_Mutation_p.P216L|ATF7IP_uc001rbx.3_Missense_Mutation_p.P216L|ATF7IP_uc010sht.1_Missense_Mutation_p.P216L|ATF7IP_uc001rby.4_Missense_Mutation_p.P216L|ATF7IP_uc001rbz.1_Missense_Mutation_p.P216L|ATF7IP_uc001rca.3_Missense_Mutation_p.P216L|ATF7IP_uc001rcb.3_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	216					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GAACCGGTCCCTGTTGAACCC	0.522000														115			39		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110831287	110831287	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:110831287C>T	uc001vqw.4	-	30	2563	c.2441G>A	c.(2440-2442)gGa>gAa	p.G814E		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	814	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCCGGTGGTCCCTGTCCTCC	0.587000														13			8		0	0	1	0	0
DQ586822	0	broad.mit.edu	37	15	84946203	84946203	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:84946203G>A	uc002bke.2	-	0		c.1047C>T								Homo sapiens cDNA FLJ34196 fis, clone FCBBF3019437.																		AAGCTTGGGAGGAACTTGTTC	0.532000														5			3		0	0	1	0	0
IL28B	282617	broad.mit.edu	37	19	39735067	39735067	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39735067C>T	uc010xut.2	-	1	250	c.248G>A	c.(247-249)aGg>aAg	p.R83K	IL28B_uc010xuu.2_Missense_Mutation_p.R83K	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA.	83					response to virus	extracellular space	cytokine activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTGCAGCTGCCTCAGGTCCCA	0.632000														25			4		0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865039	118865039	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:118865039G>A	uc003ecb.1	+	0	43	c.3G>A	c.(1-3)atG>atA	p.M1I	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.M1I	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	1										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GGCAGGAAATGGAAGAGCCTC	0.617000														24			5		0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133811053	133811053	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133811053C>T	uc003ytt.3	+	4	701	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	PHF20L1_uc003ytr.3_Missense_Mutation_p.R126C|PHF20L1_uc010mdv.3_Missense_Mutation_p.R126C|PHF20L1_uc003yts.3_Missense_Mutation_p.R126C|PHF20L1_uc011lja.2_Missense_Mutation_p.R126C|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	126	Tudor 2.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGGAGTAATTCGTTGTTTAAA	0.373000														22			8		0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38345344	38345344	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:38345344C>T	uc010qev.2	+	3	2414	c.2310C>T	c.(2308-2310)ctC>ctT	p.L770L	ZNF33A_uc001izg.3_Silent_p.L764L|ZNF33A_uc001izh.3_Silent_p.L763L|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Silent_p.L764L	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	763						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGTCAAATCTCATTGTACATC	0.383000														90			30		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98744738	98744738	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:98744738C>T	uc002syo.3	+	5	1003	c.739C>T	c.(739-741)Cct>Tct	p.P247S	VWA3B_uc010yvh.2_Missense_Mutation_p.P97S|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Missense_Mutation_p.P247S|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	247										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGGGGATGTTCCTGAAGAATC	0.498000														108			47		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37451769	37451769	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:37451769G>A	uc021ppc.1	+	16	1926	c.1827G>A	c.(1825-1827)ttG>ttA	p.L609L	ANKRD30A_uc001iza.1_Silent_p.L609L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	665						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.T608T(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACAAACATTGAGAGCAGGTA	0.328000														72			35		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196619103	196619103	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196619103C>T	uc002utj.4	-	62	11823	c.11722G>A	c.(11722-11724)Gaa>Aaa	p.E3908K	DNAH7_uc002uti.4_Missense_Mutation_p.E391K	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3908					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCATCACTTCATAGTCAAAC	0.463000														80			11		0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74622450	74622451	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74622450_74622451CC>TT	uc002jsh.3	-	5	1509_1510	c.1335_1336GG>AA	c.(1333-1338)ctggaa>ctAAaa	p.E446K	ST6GALNAC1_uc002jsi.3_Missense_Mutation_p.E314K|ST6GALNAC1_uc002jsj.3_Intron	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA.	446					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CGGGTGCCTTCCAGGAAGTGCA	0.559000														54			22		0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159259	39159259	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:39159259C>T	uc003oon.3	-	4	1271	c.907G>A	c.(907-909)Gac>Aac	p.D303N		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	303					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.D303Y(2)|p.D303N(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TTGATGAGGTCGTTGTAGGTC	0.627000														190			60		0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57118354	57118354	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57118354C>T	uc001nju.3	+	7	1008	c.824C>T	c.(823-825)tCc>tTc	p.S275F		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	275					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.S275Y(2)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						AGCAGCGTGTCCCCAGGCTAC	0.552000														74			17		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43679421	43679421	+	Missense_Mutation	SNP	G	A	A	rs150587441	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43679421G>A	uc002ovu.3	-	3	1041	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.R304C	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	304	Ig-like C2-type 2.				female pregnancy	extracellular region		p.R304C(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GCTGAGTTACGAACAGAGCAA	0.443000														262			106		0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71044053	71044053	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71044053C>T	uc002shf.3	-	3	537	c.460G>A	c.(460-462)Gga>Aga	p.G154R	CLEC4F_uc010yqv.1_Missense_Mutation_p.G154R	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	154					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTTAGAACTCCTTTTACCATC	0.478000														91			19		0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207564458	207564458	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:207564458C>T	uc002vbr.1	-	6	829	c.712G>A	c.(712-714)Gga>Aga	p.G238R		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	238						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TACCTGAGTCCCGTGATTGGG	0.527000														42			4		0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371562	55371562	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55371562C>T	uc010rii.2	-	0	313	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AGACTTGTGTCATGCACTCAT	0.413000														101			53		0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	357510	357510	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:357510C>T	uc002kkm.3	-	2	286	c.71G>A	c.(70-72)gGa>gAa	p.G24E		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	24					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				ACATTGTGTTCCTTCCTGAAT	0.303000														59			17		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076249	9076250	+	Silent	DNP	GA	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9076249_9076250GA>AT	uc002mkp.3	-	2	11400_11401	c.11196_11197TC>AT	c.(11194-11199)tctctg>tcATtg	p.3732_3733SL>SL		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3733	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L3733Q(1)|p.S3732T(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						AGAGTGGACAGAGAATCAAACA	0.500000														84			17		0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4736418	4736418	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4736418G>A	uc001qnb.4	-	3	1894	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	550					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CAGCTTCAACGAAGCTCCGTG	0.532000														40			17		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70257751	70257751	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:70257751G>A	uc001dep.3	+	1	245	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	LRRC7_uc001deo.1_Missense_Mutation_p.R110Q|LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	72						centrosome|focal adhesion|nucleolus	protein binding	p.R72G(1)		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						CAAGCTCTACGAAAACTAAGT	0.294000														78			26		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108124224	108124224	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108124224C>T	uc003dxa.1	-	33	4814	c.4757G>A	c.(4756-4758)aGa>aAa	p.R1586K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1586						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						TGAAAGCTTTCTTTCAAGTTC	0.328000														26			22		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62195402	62195402	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62195402G>A	uc002yfm.2	-	8	5665	c.4773C>T	c.(4771-4773)ccC>ccT	p.P1591P	PRIC285_uc002yfl.1_Silent_p.P1022P	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1591					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GCGTGTCGGGGGGACTGCCCC	0.687000														10			4		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21042517	21042517	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21042517C>T	uc010vbe.2	-	36	5289	c.5289G>A	c.(5287-5289)gtG>gtA	p.V1763V		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1763	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTCGTGGCTCACTTGGTCAA	0.522000														67			21		0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799376	45799376	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:45799376G>A	uc001jcc.1	-	3	804	c.495C>T	c.(493-495)gcC>gcT	p.A165A	OR13A1_uc001jcd.1_Silent_p.A161A|OR13A1_uc021ppq.1_Silent_p.A165A	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GCAGCCACACGGCTGTGGCCA	0.597000														54			14		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70928354	70928354	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:70928354G>A	uc002ezr.3	-	54	9394	c.9243C>T	c.(9241-9243)ttC>ttT	p.F3081F		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3082										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)				CCAGTTACCTGAACGCGATCT	0.522000														46			12		0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5241338	5241338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:5241338C>T	uc002gbm.4	+	4	777	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	RABEP1_uc010clc.1_Missense_Mutation_p.R185W|RABEP1_uc010cld.1_Missense_Mutation_p.R142W|RABEP1_uc010vsw.1_Missense_Mutation_p.R142W|RABEP1_uc002gbl.4_Missense_Mutation_p.R185W|RABEP1_uc002gbk.2_Missense_Mutation_p.R185W	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	185					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TGAGAAACTTCGGTCCGTTGT	0.398000														63			48		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848916	73848916	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:73848916G>A	uc003xzb.3	+	2	1914	c.1326G>A	c.(1324-1326)cgG>cgA	p.R442R		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	442					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)			CTCTTGAGCGGGCCAAAAGGA	0.453000														83			26		0	0	1	0	0
ACTL7A	10881	broad.mit.edu	37	9	111624631	111624631	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:111624631G>A	uc004bdj.1	+	0	29	c.29G>A	c.(28-30)gGg>gAg	p.G10E		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	Homo sapiens actin-like 7A (ACTL7A), mRNA.	10						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCAATCATGGGGGATGGGCCC	0.597000														63			22		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382697	22382697	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22382697C>T	uc001yuc.1	+	6	1206	c.225C>T	c.(223-225)ttC>ttT	p.F75F	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.F75F	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTACTCCTTCATTGTGGCTC	0.478000														233			56		0	0	1	0	0
SLC16A13	201232	broad.mit.edu	37	17	6941598	6941598	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:6941598C>T	uc002geh.3	+	2	779	c.471C>T	c.(469-471)ccC>ccT	p.P157P		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	157						integral to membrane|plasma membrane	symporter activity	p.A156S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CATTTGCCCCCTTTTTCCAGT	0.652000														30			30		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21227219	21227219	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21227219G>A	uc002red.3	-	27	12137	c.12009C>T	c.(12007-12009)tcC>tcT	p.S4003S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4003					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTACGGCTGGGGAGGCTGCTG	0.502000														88			17		0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33093395	33093395	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:33093395G>A	uc011axk.1	-	8	1155	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A	GLB1_uc003cfh.1_Silent_p.A268A|GLB1_uc003cfi.1_Silent_p.A298A|GLB1_uc003cfj.1_Silent_p.A167A	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	298			K -> N (in GM1G1).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	p.K346T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TCGCCCCACGGGCAAGTATAT	0.512000														65			21		0	0	1	0	0
GPR52	9293	broad.mit.edu	37	1	174417609	174417609	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:174417609C>T	uc010pmu.1	-	0		c.726G>A			RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron|GPR52_uc001gka.1_Silent_p.I120I			Q9Y2T5	GPR52_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022628 3' read GPR52 mRNA.							integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TTGGATATATCATCTCAGTTC	0.428000														195			84		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071818	17071818	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17071818C>T	uc002zlp.1	-	0	1883	c.1623G>A	c.(1621-1623)aaG>aaA	p.K541K		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	541					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTGGGTGTTTCTTTGTCTTCT	0.443000														145			36		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128482972	128482973	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128482972_128482973GG>AA	uc003vnz.4	+	15	2723_2724	c.2514_2515GG>AA	c.(2512-2517)gcgggc>gcAAgc	p.G839S	FLNC_uc003voa.4_Missense_Mutation_p.G839S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	839					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACCAGGGGCGGGCCGCTACAC	0.594000														47			5		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100169943	100169943	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:100169943C>T	uc001pga.3	+	19	2939	c.2435C>T	c.(2434-2436)gCt>gTt	p.A812V	CNTN5_uc001pfz.3_Missense_Mutation_p.A812V|CNTN5_uc021qpb.1_Missense_Mutation_p.A812V|CNTN5_uc021qpc.1_Missense_Mutation_p.A738V|CNTN5_uc010ruk.2_Missense_Mutation_p.A83V	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	812	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TATATTGTGGCTTTCAGACCC	0.378000														31			12		0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100730827	100730827	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100730827C>T	uc003uxq.3	+	2	465	c.234C>T	c.(232-234)ttC>ttT	p.F78F	TRIM56_uc003uxr.3_Silent_p.F78F|TRIM56_uc022aiw.1_Silent_p.F78F	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	78					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAACTTCTTCGTCAATGGGC	0.692000														78			45		0	0	1	0	0
C15orf43	145645	broad.mit.edu	37	15	45249110	45249110	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45249110G>A	uc001zuk.3	+	1	95	c.81G>A	c.(79-81)acG>acA	p.T27T		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.	27										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		AAGGGGGAACGATCAGTGACC	0.587000														70			9		0	0	1	0	0
NENF	29937	broad.mit.edu	37	1	212619322	212619322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:212619322C>T	uc001hjd.3	+	3	550	c.493C>T	c.(493-495)Cat>Tat	p.H165Y	NENF_uc010ptf.2_Non-coding_Transcript	NM_013349	NP_037481	Q9UMX5	NENF_HUMAN	Homo sapiens neudesin neurotrophic factor (NENF), transcript variant 1, mRNA.	165						extracellular space	heme binding			endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		AGACCAGCCCCATTTTGACAT	0.522000														73			18		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95748146	95748146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:95748146G>A	uc003kls.2	-	6	997	c.758C>T	c.(757-759)tCa>tTa	p.S253L	PCSK1_uc010jbi.2_Missense_Mutation_p.S14L|PCSK1_uc021ybq.1_Missense_Mutation_p.S206L	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	253	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAATCCAATTGAACTGGCCTC	0.468000														56			20		0	0	1	0	0
LOC643201	643201	broad.mit.edu	37	5	175572124	175572124	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:175572124C>T	uc003mdn.3	-	24		c.3654G>A								Homo sapiens centrosomal protein 192kDa pseudogene (LOC643201), non-coding RNA.																		AGGTTTACTTCCTGAAGAATG	0.413000														27			5		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793010	65793010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65793010C>T	uc001ogt.3	-	0	979	c.841G>A	c.(841-843)Gac>Aac	p.D281N		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	281	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						tggggatggtcgccatggtgg	0.577000														11			3		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90503636	90503636	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90503636C>T	uc004app.4	+	3	4269	c.4234C>T	c.(4234-4236)Cca>Tca	p.P1412S		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1412						integral to membrane											GCCTGTGTCCCCAGCTGGTCC	0.627000														38			18		0	0	1	0	0
RXRG	6258	broad.mit.edu	37	1	165378827	165378827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:165378827G>A	uc001gda.3	-	6	1476	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	RXRG_uc021pea.1_Silent_p.A215A	NM_006917	NP_008848	P48443	RXRG_HUMAN	Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA.	338	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CAGCACTGTGGGCACTGCTCC	0.522000														29			13		0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36766013	36766013	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:36766013G>A	uc003omr.1	-	5	400	c.333C>T	c.(331-333)ttC>ttT	p.F111F	CPNE5_uc003oms.1_Silent_p.F73F	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	111	C2 1.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCTGGCCCAGGAAATCCTGCA	0.602000														20			8		0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164506928	164506928	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:164506928C>T	uc003iqs.2	-	5	578	c.396G>A	c.(394-396)atG>atA	p.M132I	MARCH1_uc003iqr.2_Missense_Mutation_p.M115I	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	132					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	p.T131T(2)		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)				GCTTGGTCTCCATTATGAAGT	0.483000														80			35		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100645220	100645220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:100645220C>T	uc003dun.3	-	1	291	c.206G>A	c.(205-207)gGa>gAa	p.G69E	ABI3BP_uc003duo.2_Missense_Mutation_p.G62E|ABI3BP_uc003dup.4_Missense_Mutation_p.G62E	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	69						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCTGCCATATCCCAGGAGAAG	0.473000														70			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8976750	8976750	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8976750G>A	uc002mkp.3	-	72	42520	c.42316C>T	c.(42316-42318)Ctt>Ttt	p.L14106F	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.L906F|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14137	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						AGGTGCTGAAGGACCCCCTCG	0.552000														33			11		0	0	1	0	0
IFNA10	3446	broad.mit.edu	37	9	21206699	21206699	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21206699G>A	uc003zoq.1	-	0	444	c.398C>T	c.(397-399)cCc>cTc	p.P133L	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	133					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		ATTCATCAGGGGAGTCTCTTC	0.463000														153			53		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50367249	50367249	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:50367249C>T	uc003tow.4	+	2	211	c.56C>T	c.(55-57)cCt>cTt	p.P19L	IKZF1_uc022acq.1_Missense_Mutation_p.P19L|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Missense_Mutation_p.P19L|IKZF1_uc022acu.1_Missense_Mutation_p.P19L|IKZF1_uc003tox.4_Missense_Mutation_p.P19L|IKZF1_uc022acv.1_Missense_Mutation_p.P19L|IKZF1_uc022acw.1_Missense_Mutation_p.P19L|IKZF1_uc022acx.1_Missense_Mutation_p.P19L|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Missense_Mutation_p.P19L|IKZF1_uc003toy.4_Missense_Mutation_p.P19L|IKZF1_uc003toz.4_5'UTR|IKZF1_uc010kyx.3_5'UTR|IKZF1_uc003tov.1_Missense_Mutation_p.P19L	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	19					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(33)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAAAGCCCCCCTGTAAGCGAT	0.597000			"""D,T"""	BCL6	"""ALL, DLBCL"""									18			5		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42635205	42635205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42635205G>A	uc010ggo.3	+	2	224	c.184G>A	c.(184-186)Gag>Aag	p.E62K	TOX2_uc002xle.4_Missense_Mutation_p.E20K|TOX2_uc010ggp.3_Missense_Mutation_p.E20K|TOX2_uc002xlf.4_Missense_Mutation_p.E71K|Metazoa_SRP_uc021wdz.1_5'Flank	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CGGCCAGAGCGAGAACAACGA	0.547000														102			39		0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48565282	48565282	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:48565282G>A	uc010xzd.2	-	13	1597	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	PLA2G4C_uc002phw.3_Silent_p.F345F|PLA2G4C_uc010elr.3_Silent_p.F410F|PLA2G4C_uc002phx.3_Silent_p.F410F	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	410	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CACTGAAGTCGAAGGAGAGGA	0.622000														104			49		0	0	1	0	0
TTC35	9694	broad.mit.edu	37	8	109498750	109498750	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:109498750C>T	uc003ymw.1	+	10	852	c.817C>T	c.(817-819)Cga>Tga	p.R273*		NM_014673	NP_055488	Q15006	TTC35_HUMAN	Homo sapiens tetratricopeptide repeat domain 35 (TTC35), mRNA.	273						endoplasmic reticulum|nucleus	binding	p.R273*(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)			GTTTGCAGGTCGAAGTAAGAA	0.333000														36			14		0	0	1	0	0
GPN3	51184	broad.mit.edu	37	12	110895370	110895370	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:110895370A>G	uc021rdu.1	-	3	597	c.512T>C	c.(511-513)tTc>tCc	p.F171S	GPN3_uc001tqr.3_Missense_Mutation_p.F132S|GPN3_uc001tqs.3_Missense_Mutation_p.F142S	NM_001164372	NP_001157844	Q9UHW5	GPN3_HUMAN	Homo sapiens GPN-loop GTPase 3 (GPN3), transcript variant 2, mRNA.	132						protein complex	GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						ACAGACTCGGAACTCCCACTG	0.393000														43			20		0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3628883	3628883	+	Missense_Mutation	SNP	C	T	T	rs150287837		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3628883C>T	uc002fwp.3	+	0	1687	c.1654C>T	c.(1654-1656)Cgc>Tgc	p.R552C	ITGAE_uc002fwo.4_Intron|ITGAE_uc002fwn.4_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	Homo sapiens germ cell associated 2 (haspin) (GSG2), mRNA.	552	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										AGTGTGCAACCGCACAGAAGG	0.478000														34			33		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227895176	227895176	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:227895176C>T	uc021vxr.1	-	39	4057	c.3956G>A	c.(3955-3957)gGa>gAa	p.G1319E	COL4A4_uc021vxs.1_Missense_Mutation_p.G1319E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1319	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCCATCTTTTCCATCACATCC	0.522000														118			35		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8657649	8657649	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8657649C>T	uc002mkj.1	-	12	1859	c.1585G>A	c.(1585-1587)Ggg>Agg	p.G529R	ADAMTS10_uc002mki.1_5'Flank|ADAMTS10_uc002mkk.1_Missense_Mutation_p.G161R	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	529	Disintegrin.				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						GCGCTCACCCCCTTGTCGATG	0.682000														14			3		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999223	27999223	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:27999223C>T	uc004dbx.1	-	0	344	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	77	Glu-rich.									NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TCGACGTCTTCACTTGAACTT	0.488000														39			40		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27803388	27803388	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27803388G>A	uc002rkz.4	+	0	4000	c.3949G>A	c.(3949-3951)Gaa>Aaa	p.E1317K	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1317										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCCTTCTAGGGAATTAGCAGC	0.398000														64			13		0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65811104	65811104	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65811104G>A	uc001ogv.3	-	1	330	c.170C>T	c.(169-171)tCg>tTg	p.S57L	GAL3ST3_uc001ogw.3_Missense_Mutation_p.S57L	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	57					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GCGCGGCGGCGAGTTCCGCAG	0.652000														33			12		0	0	1	0	0
ANKRD5	63926	broad.mit.edu	37	20	10032366	10032366	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:10032366C>T	uc002wno.3	+	7	2092	c.1699C>T	c.(1699-1701)Cat>Tat	p.H567Y	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.H567Y|ANKRD5_uc010gbz.3_Missense_Mutation_p.H378Y	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	567							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						TTTTGCATGCCATGCAGGCCA	0.368000														68			18		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10554890	10554890	+	Silent	SNP	G	A	A	rs148322984		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10554890G>A	uc002gmq.2	-	4	532	c.444C>T	c.(442-444)cgC>cgT	p.R148R		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	148	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGGCCTCCTGGCGCTTTTTGC	0.577000														113			95		0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179728597	179728597	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:179728597G>A	uc003mlw.1	-	18	2114	c.2016C>T	c.(2014-2016)ccC>ccT	p.P672P		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	672	SIS 2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	p.P672S(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCAGATTTCTGGGGAAGTCAA	0.453000														81			22		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150553935	150553935	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150553935G>A	uc003why.1	+	2	4595	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	ABP1_uc003whz.1_Missense_Mutation_p.R126Q|ABP1_uc003wia.1_Missense_Mutation_p.R126Q	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	126					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	TGCTACATGCGAGCACTGTCC	0.637000														84			36		0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46177384	46177384	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46177384C>T	uc002pcu.1	+	5	536	c.437C>T	c.(436-438)tCc>tTc	p.S146F	GIPR_uc002pct.1_Missense_Mutation_p.S146F|GIPR_uc010xxp.1_Missense_Mutation_p.S110F|GIPR_uc010xxq.1_Non-coding_Transcript|MIR642A_uc021uvx.1_5'Flank	NM_000164	NP_000155	P48546	GIPR_HUMAN	Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA.	146					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GTCGGCTACTCCCTGTCTCTC	0.592000														178			64		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20966148	20966148	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20966148G>A	uc010vbe.2	-	54	11058	c.11058C>T	c.(11056-11058)aaC>aaT	p.N3686N	DNAH3_uc010vbd.2_Silent_p.N1121N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3686	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGGGGCCGAAGTTTCTTCTCT	0.488000														127			34		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058065	53058065	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53058065C>T	uc010epq.1	+	4	2073	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACACAGCTTTCACGTGGAATT	0.408000														72			15		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150907031	150907031	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:150907031G>A	uc004fey.1	+	1	300	c.76G>A	c.(76-78)Gcc>Acc	p.A26T		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	26					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)					TGCCATCAAGGCCAATGGCAA	0.502000														33			43		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56183149	56183149	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:56183149G>A	uc021wzo.1	-	3	1301	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	ERC2_uc003dhr.1_Silent_p.I387I	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	387						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCAATGAAGCGATTTTTGTGT	0.333000														28			5		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158589027	158589027	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158589027C>T	uc001fst.1	-	44	6714	c.6515G>A	c.(6514-6516)tGg>tAg	p.W2172*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2172					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.W2172C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCCAGGATCCATTGAAGGAA	0.483000														133			63		0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974679	64974679	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:64974679G>A	uc001jmn.3	-	7	1548	c.1248C>T	c.(1246-1248)ccC>ccT	p.P416P	JMJD1C_uc001jml.3_Silent_p.P197P|JMJD1C_uc001jmm.3_Silent_p.P128P|JMJD1C_uc010qiq.2_Silent_p.P234P|JMJD1C_uc009xpi.3_Silent_p.P234P|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Silent_p.P128P	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	416					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CATTATTATGGGGTTTTCCTT	0.348000														57			18		0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14157366	14157367	+	Missense_Mutation	DNP	GG	AA	AA	rs140727303		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:14157366_14157367GG>AA	uc002mxx.3	+	7	1500_1501	c.1077_1078GG>AA	c.(1075-1080)ggggac>ggAAac	p.D360N		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	360	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CTCGAGATGGGGACCCCCTGGA	0.644000														100			31		0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711301	20711301	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20711301G>A	uc010tld.2	+	0	351	c.351G>A	c.(349-351)ctG>ctA	p.L117L		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TCTTTTCACTGGGAACAACTG	0.463000														95			21		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38995970	38995970	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38995970G>A	uc002oit.3	+	52	8462	c.8332G>A	c.(8332-8334)Gga>Aga	p.G2778R	RYR1_uc002oiu.3_Missense_Mutation_p.G2778R|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2778	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGGTCCTATGGAGAGAACAT	0.602000														20			12		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50208317	50208317	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50208317C>T	uc010eng.3	+	8	1141	c.825C>T	c.(823-825)gcC>gcT	p.A275A	CPT1C_uc002ppl.4_Silent_p.A241A|CPT1C_uc002ppi.3_Silent_p.A192A|CPT1C_uc002ppk.3_Silent_p.A264A|CPT1C_uc010enh.3_Silent_p.A275A|CPT1C_uc002ppj.3_Silent_p.A275A|CPT1C_uc010ybc.1_Silent_p.A113A|CPT1C_uc010eni.1_5'Flank	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	275					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTGGGAATGCCGTCCATGCCC	0.647000														63			34		0	0	1	0	0
SF3A1	10291	broad.mit.edu	37	22	30742459	30742459	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:30742459G>A	uc003ahl.3	-	2	367	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	SF3A1_uc021wnt.1_Missense_Mutation_p.P79S	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	79					nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TTGAACTTGGGGTTGTTGATC	0.517000														115			38		0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127796962	127796962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:127796962C>T	uc003qbd.3	-	5	3074	c.2209G>A	c.(2209-2211)Gac>Aac	p.D737N	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	737						integral to membrane											GAGGCCAGGTCGTAGCGCTGC	0.677000														50			54		0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53520004	53520004	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:53520004C>T	uc003pcb.4	-	1	208	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GGGCTATCTTCTACGATTATA	0.418000														47			21		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445091	150445091	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:150445091C>T	uc009wlr.3	+	10	3868	c.3667C>T	c.(3667-3669)Cat>Tat	p.H1223Y	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Missense_Mutation_p.H1197Y	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1223	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCCTAAGGATCATGGTGGTAT	0.572000														101			36		0	0	1	0	0
PKD1P1	339044	broad.mit.edu	37	16	16415110	16415110	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:16415110C>T	uc002der.3	+	0		c.602C>T								Homo sapiens polycystic kidney disease 1 (autosomal dominant) pseudogene 1 (PKD1P1), non-coding RNA.																		GTAGCACTGCCGTGGCTCGGT	0.652000														13			7		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45725690	45725690	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:45725690C>T	uc003tne.4	+	12	2221	c.2203C>T	c.(2203-2205)Ctg>Ttg	p.L735L		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	735					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GCTCTGCTGCCTGGTGGGCAC	0.617000														47			27		0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111769563	111769563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:111769563G>A	uc010hqb.2	+	6	928	c.758G>A	c.(757-759)gGg>gAg	p.G253E	TMPRSS7_uc011bhr.1_Missense_Mutation_p.G108E	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	379	CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGCTTTGAAGGGAAAATTTCA	0.403000														213			79		0	0	1	0	0
MRPL9	65005	broad.mit.edu	37	1	151734888	151734888	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151734888G>A	uc001eyv.3	-	2	484	c.399C>T	c.(397-399)tcC>tcT	p.S133S	MRPL9_uc009wmz.3_Non-coding_Transcript|MRPL9_uc010pdk.1_Silent_p.S133S|MRPL9_uc009wna.1_3'UTR|OAZ3_uc010pdl.2_5'Flank	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	Homo sapiens mitochondrial ribosomal protein L9 (MRPL9), nuclear gene encoding mitochondrial protein, mRNA.	133					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGTTTTCAGGGGATGCATATA	0.468000														147			19		0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135078869	135078869	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:135078869G>A	uc003vsv.2	-	9	1759	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	CNOT4_uc011kpy.2_Silent_p.F476F|CNOT4_uc011kpz.2_Silent_p.F473F|CNOT4_uc003vst.3_Silent_p.F476F|CNOT4_uc003vss.3_Silent_p.F473F|CNOT4_uc003vsu.2_Silent_p.F473F	NM_001190848	NP_001177777	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA.	476					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GAAATTGAGGGAACCTCTGGG	0.507000														90			40		0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24823824	24823824	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:24823824C>T	uc001upd.2	+	4	2441	c.1863C>T	c.(1861-1863)gaC>gaT	p.D621D	SPATA13_uc001upe.3_Intron|SPATA13_uc021rhg.1_Silent_p.D621D|SPATA13_uc001upg.2_5'UTR|SPATA13_uc010tcy.1_5'Flank|SPATA13_uc010tcz.2_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	0	C-terminal tail.				cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGACGAGGACCCCCAGGCAA	0.607000														136			37		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120584894	120584894	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:120584894G>A	uc001txo.3	-	37	4922	c.4909C>T	c.(4909-4911)Cag>Tag	p.Q1637*		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1637					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAATAATCTGGGCTGCCATC	0.552000														30			4		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26093564	26093564	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:26093564G>A	uc002gzu.3	-	18	2482	c.2218C>T	c.(2218-2220)Cgg>Tgg	p.R740W		NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	740	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGATTCTGCCGAGATTTGAGC	0.478000														101			29		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94519722	94519722	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:94519722C>T	uc004arj.2	-	2	494	c.295G>A	c.(295-297)Gat>Aat	p.D99N	ROR2_uc004ari.1_5'UTR|ROR2_uc004ark.3_Missense_Mutation_p.D99N	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	99	Ig-like C2-type.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACCGGGGCATCATTCTTTAGC	0.562000														105			35		0	0	1	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177553	89177553	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:89177553C>T	uc022bzr.1	+	0	469	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	TGIF2LX_uc004efe.3_Silent_p.L157L	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	157						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TGTACAAAGCCTGCCCCTGTG	0.612000														29			9		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120512162	120512162	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:120512162G>A	uc001eik.3	-	5	1377	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	NOTCH2_uc001eil.3_Silent_p.F360F|NOTCH2_uc021osy.1_Silent_p.F321F|NOTCH2_uc001eim.4_Silent_p.F277F	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	360	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACATGCAAGAGAAGGAGGCCA	0.562000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					37			4		0	0	1	0	0
PARPBP	55010	broad.mit.edu	37	12	102569432	102569432	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:102569432C>T	uc010swa.2	+	7	1336	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	PARPBP_uc001tjf.3_Silent_p.I331I|PARPBP_uc001tjg.3_Silent_p.I250I|PARPBP_uc001tjh.3_Silent_p.I250I|PARPBP_uc010swb.2_Intron|PARPBP_uc009zuc.3_Intron|PARPBP_uc001tjj.3_Silent_p.I46I|PARPBP_uc001tjk.3_Intron|PARPBP_uc009zud.3_Intron	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	Homo sapiens PARP1 binding protein (PARPBP), mRNA.	331					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						CCACTGACATCAGTCCTGCTC	0.318000														41			18		0	0	1	0	0
SETD7	80854	broad.mit.edu	37	4	140439176	140439176	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:140439176G>A	uc003ihw.3	-	6	1069	c.783C>T	c.(781-783)gcC>gcT	p.A261A		NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN	Homo sapiens SET domain containing (lysine methyltransferase) 7 (SETD7), mRNA.	261	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					TCCCATTAAGGGCCCAGTCCC	0.488000														33			8		0	0	1	0	0
PQLC1	80148	broad.mit.edu	37	18	77679198	77679198	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:77679198G>A	uc002lnl.2	-	4	766	c.594C>T	c.(592-594)tcC>tcT	p.S198S	PQLC1_uc010dre.2_Silent_p.S115S|PQLC1_uc002lnk.2_Silent_p.S180S|PQLC1_uc010xfm.1_Intron	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	Homo sapiens PQ loop repeat containing 1 (PQLC1), transcript variant 1, mRNA.	198	PQ-loop 2.					integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		TGCCCTCCGTGGACTGGTGGC	0.612000														39			12		0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45322706	45322706	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45322706A>G	uc002ozu.3	+	11	1621	c.1577A>G	c.(1576-1578)aAc>aGc	p.N526S	BCAM_uc002ozt.1_Missense_Mutation_p.N526S	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	526	Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GAAGCCTCCAACCCCCACGGG	0.647000														71			28		0	0	1	0	0
GPR27	2850	broad.mit.edu	37	3	71803825	71803825	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:71803825C>T	uc011bge.2	+	0	625	c.625C>T	c.(625-627)Cac>Tac	p.H209Y	EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_5'UTR	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA.	209						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CTTCTTCATCCACGACCGCCG	0.761000														6			6		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508190	37508190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:37508190G>A	uc021ppc.1	+	33	3481	c.3382G>A	c.(3382-3384)Gaa>Aaa	p.E1128K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E1128K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1184						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAAATTGAAGGAAAAACAAGA	0.368000														146			10		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80752498	80752498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:80752498G>A	uc001szd.3	+	49	6148	c.6142G>A	c.(6142-6144)Gat>Aat	p.D2048N	OTOGL_uc021rba.1_Missense_Mutation_p.D67N|OTOGL_uc009zsg.2_5'UTR	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTGTGCAGAAGATATGAATCT	0.313000														44			10		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42457418	42457418	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:42457418G>A	uc003gwr.2	-	28	2945	c.2713C>T	c.(2713-2715)Cct>Tct	p.P905S	ATP8A1_uc003gwq.2_Missense_Mutation_p.P131S|ATP8A1_uc003gws.2_Missense_Mutation_p.P890S	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	905					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AGAGTTAAAGGAGGCATTGCT	0.398000														92			31		0	0	1	0	0
TREML1	340205	broad.mit.edu	37	6	41121769	41121769	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:41121769G>A	uc011duc.2	-	1	147	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L	TREML1_uc003opx.3_Silent_p.L35L|TREML1_uc011dud.2_Intron	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 1 (TREML1), mRNA.	35	Ig-like V-type.				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACTGCACCAGAATGGAGCTT	0.617000														31			11		0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32376538	32376538	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:32376538C>T	uc001utt.3	+	17	2332	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	RXFP2_uc010aba.3_Missense_Mutation_p.S730F	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	754						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AAACCAGTTTCCTAGCAATCA	0.403000														204			88		0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092811	151092811	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151092811G>A	uc022cgv.1	+	0	675	c.675G>A	c.(673-675)gaG>gaA	p.E225E	MAGEA4_uc004fez.3_Silent_p.E225E|MAGEA4_uc004ffa.3_Silent_p.E225E|MAGEA4_uc004ffb.3_Silent_p.E225E|MAGEA4_uc022cgu.1_Silent_p.E253E|MAGEA4_uc004ffc.3_Silent_p.E225E|MAGEA4_uc004ffd.3_Silent_p.E225E	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	225	MAGE.						protein binding	p.E225K(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGGGAGGAGCTGGGTGTGA	0.537000														53			56		0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127898505	127898505	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:127898505G>A	uc003qbh.3	+	0	187	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	59						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		GGTATACCTTGAGAGAATGGG	0.438000														63			55		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57865164	57865164	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57865164C>T	uc001snx.3	+	11	2735	c.2641C>T	c.(2641-2643)Ctg>Ttg	p.L881L	GLI1_uc021qzi.1_Silent_p.L840L|GLI1_uc009zpq.3_Silent_p.L753L	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	881					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CAGGCCTTGCCTGGACTTTGA	0.552000														132			17		0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46122066	46122066	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:46122066G>A	uc001jcp.4	-	6	1447	c.1205C>T	c.(1204-1206)gCt>gTt	p.A402V	ZFAND4_uc001jcl.4_5'UTR|ZFAND4_uc001jcm.4_Missense_Mutation_p.A402V|ZFAND4_uc009xmu.3_Missense_Mutation_p.A328V|ZFAND4_uc001jcn.4_Missense_Mutation_p.A328V|ZFAND4_uc001jco.4_Intron	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	402							zinc ion binding										TGCAAATGAAGCCAGTGAGCC	0.433000														103			45		0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9795569	9795569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:9795569G>A	uc001aqh.3	-	12	2598	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F	CLSTN1_uc001aqi.3_Silent_p.F603F|CLSTN1_uc010oag.2_Silent_p.F594F|CLSTN1_uc001aqf.3_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	613					homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGGGCGTGGGGAACTGCCGGG	0.507000														155			44		0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39436236	39436236	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:39436236G>A	uc003gua.3	+	1	1329	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	KLB_uc011byj.2_Missense_Mutation_p.R411Q	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	411	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.P410S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AACAACCCTCGAATCTTGATT	0.428000														111			41		0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103568561	103568562	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:103568561_103568562CT>TC	uc001ymk.3	+	1	577_578	c.501_502CT>TC	c.(499-504)accttt>acTCtt	p.F168L		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	168										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CCTCGCGCACCTTTGAGCAGGA	0.658000														8			5		0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27187241	27187241	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:27187241C>T	uc003syo.2	-	0	153	c.128G>A	c.(127-129)gGg>gAg	p.G43E	HOXA-AS3_uc003syr.2_Intron|HOXA-AS3_uc003syp.2_Intron|HOXA6_uc003syq.1_Intron	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	43						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						ACTCGACGCCCCGTACGAGGC	0.657000														41			19		0	0	1	0	0
TRAF1	7185	broad.mit.edu	37	9	123667431	123667431	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:123667431C>T	uc004bku.2	-	7	1690	c.1118G>A	c.(1117-1119)aGg>aAg	p.R373K	TRAF1_uc011lyg.2_Missense_Mutation_p.R251K|TRAF1_uc010mvl.2_Missense_Mutation_p.R373K	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	373	MATH.				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						ACTCTGGGGCCTCTGGAAGGA	0.587000														24			13		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46989702	46989702	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46989702C>T	uc003oyt.3	-	5	743	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	GPR110_uc011dwl.2_5'UTR|GPR110_uc003oyu.1_Missense_Mutation_p.E182K	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	182	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ACTTGAATTTCAATTCCATTT	0.294000														69			30		0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	280753	280753	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:280753C>T	uc010qvs.2	+	3	1019	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	NLRP6_uc010qvt.2_Missense_Mutation_p.S340F	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	340	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGCCTGTGTTCCCCGCAGTGC	0.687000														41			23		0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124195392	124195392	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:124195392C>T	uc003ypv.3	+	1	2310	c.296C>T	c.(295-297)tCc>tTc	p.S99F	FAM83A_uc003ypw.3_Missense_Mutation_p.S99F|U3_uc022bai.1_5'Flank|FAM83A_uc003ypx.3_Missense_Mutation_p.S99F|FAM83A_uc003ypy.3_Missense_Mutation_p.S99F|FAM83A_uc003ypz.3_Missense_Mutation_p.S99F	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	99										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GACTCCAGCTCCCTACAGTCC	0.662000														103			11		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21750215	21750215	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:21750215G>A	uc003svc.3	+	41	6780	c.6749G>A	c.(6748-6750)cGa>cAa	p.R2250Q		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2250	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCCATTCTACGAGAACAAGCA	0.343000									Kartagener syndrome					37			9		0	0	1	0	0
KIAA1383	54627	broad.mit.edu	37	1	232941806	232941806	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:232941806G>A	uc001hvh.2	+	0	1169	c.1037G>A	c.(1036-1038)gGa>gAa	p.G346E		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	204										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				ACAGGAGGAGGAGCGGAGGTC	0.632000														39			15		0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88534406	88534406	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:88534406A>T	uc003hqu.3	+	3	1188	c.1068A>T	c.(1066-1068)gaA>gaT	p.E356D		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	356					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AACGCGTAGAAAATAGAATCA	0.413000														44			19		0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102900631	102900631	+	Missense_Mutation	SNP	C	T	T	rs150165045		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:102900631C>T	uc001ylw.2	+	8	1703	c.1477C>T	c.(1477-1479)Cct>Tct	p.P493S	TECPR2_uc010awl.3_Missense_Mutation_p.P493S|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	493							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CTCCGAATTTCCTGGGGACAG	0.507000														68			26		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743045	26743045	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:26743045C>T	uc001mra.2	-	0	530	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.4_Missense_Mutation_p.E73K	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	73					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.E73V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CGGTAGACTTCAGAAGGGGTC	0.512000														59			23		0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239016599	239016599	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:239016599G>A	uc002vxq.4	+	3	950	c.840G>A	c.(838-840)gaG>gaA	p.E280E	ESPNL_uc010fyw.3_Silent_p.E20E	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	280										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ACGCAGCAGAGAACGGGCAGA	0.642000														32			9		0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35293219	35293219	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:35293219C>A	uc011kas.2	-	0	493	c.13G>T	c.(13-15)Gcg>Tcg	p.A5S		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	5						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TTGGGGGACGCCGTGAACTCC	0.647000														56			20		0.00047179	0.000472356	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133540263	133540263	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:133540263G>A	uc002ttp.3	-	13	4495	c.4121C>T	c.(4120-4122)cCa>cTa	p.P1374L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1374							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTCAGACTTTGGAGGGATCCT	0.617000														50			24		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153133547	153133547	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:153133547G>A	uc004fjb.3	-	13	1842	c.1734C>T	c.(1732-1734)atC>atT	p.I578I	L1CAM_uc004fjc.3_Silent_p.I578I|L1CAM_uc010nuo.3_Silent_p.I573I	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	578	Ig-like C2-type 6.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGCTGTGGATGACCAGGC	0.597000														33			7		0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94935499	94935499	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:94935499C>T	uc011lgn.2	+	1	1438	c.1389C>T	c.(1387-1389)caC>caT	p.H463H	PDP1_uc003ygf.3_Silent_p.H429H|PDP1_uc003yge.3_Silent_p.H404H|PDP1_uc010max.3_Silent_p.H429H|PDP1_uc011lgm.2_Silent_p.H404H|PDP1_uc022ayg.1_Silent_p.H404H	NM_001161778	NP_001155250	Q9P0J1	PDP1_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	404					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TAACTTACCACCGATTAAGGC	0.458000														107			35		0	0	1	0	0
FAM183B	340286	broad.mit.edu	37	7	38725614	38725614	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:38725614G>A	uc011kbd.2	-	1	979	c.683C>T	c.(682-684)cCc>cTc	p.P228L						Homo sapiens family with sequence similarity 183, member B (FAM183B), non-coding RNA.											endometrium(1)|lung(7)	8						ATAGCCTTGGGGCTGCTCCGT	0.607000														48			4		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178409938	178409938	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178409938G>A	uc003mjr.3	-	8	2588	c.2409C>T	c.(2407-2409)ttC>ttT	p.F803F	GRM6_uc003mjq.3_Silent_p.F206F	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	803					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CAGTGCCAAAGAAGATGGGCA	0.562000														58			34		0	0	1	0	0
FAM190A	401145	broad.mit.edu	37	4	91645125	91645125	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:91645125G>A	uc003hsv.4	+	6	2333	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K	FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.E665K|FAM190A_uc003hsx.3_Non-coding_Transcript	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	665										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TCTTACTGAAGAGCCAGTGCC	0.333000														6			4		0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413483	124413483	+	Missense_Mutation	SNP	C	T	T	rs140680123		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124413483C>T	uc010sam.2	-	0	68	c.68G>A	c.(67-69)cGg>cAg	p.R23Q		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R23W(2)|p.R23R(1)		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)		GAGGGGGATCCGCAGTCCCGG	0.547000														135			12		0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587770	36587770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:36587770G>A	uc003aox.3	-	5	631	c.406C>T	c.(406-408)Cac>Tac	p.H136Y	APOL4_uc003aow.3_Missense_Mutation_p.H133Y|APOL4_uc010gww.3_5'UTR	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant b, mRNA.	137					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						CAGCCTCTGTGGACCTTTTCA	0.483000														74			12		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	36943516	36943516	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:36943516G>A	uc002rpl.3	+	1	305	c.3G>A	c.(1-3)atG>atA	p.M1I	VIT_uc002rpk.3_Missense_Mutation_p.M1I|VIT_uc010ynf.2_5'UTR|VIT_uc002rpm.3_Missense_Mutation_p.M1I|VIT_uc010ezv.3_Missense_Mutation_p.M1I|VIT_uc010ezw.3_Missense_Mutation_p.M1I	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	1						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGATATTTATGAGGACTGTTG	0.383000														65			20		0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64643413	64643413	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:64643413C>T	uc001dbj.2	+	8	2088	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F		NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	563	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity	p.E562D(1)		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						TCCATGAGTTCCTCATCATGA	0.488000														70			22		0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52682524	52682524	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:52682524G>A	uc001vge.3	-	7	624	c.484C>T	c.(484-486)Cga>Tga	p.R162*		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	162	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.R219*(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ATACAAGTTCGAGCAAGTTCC	0.333000														65			33		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49446130	49446130	+	Silent	SNP	C	T	T	rs149962060		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:49446130C>T	uc001jgi.3	-	7	1156	c.825G>A	c.(823-825)gcG>gcA	p.A275A	FRMPD2_uc001jgh.3_Silent_p.A244A|FRMPD2_uc001jgj.3_Silent_p.A244A	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	275					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.A275A(2)		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)		GCCTCCGGCCCGCCTGCTGGT	0.577000														61			20		0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78379618	78379618	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:78379618G>A	uc003kft.3	+	6	1008	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	BHMT2_uc011cth.2_Missense_Mutation_p.E253K	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA.	317					methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	ACCAGCTTCAGAAAAACACGG	0.478000														29			18		0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85478726	85478726	+	Missense_Mutation	SNP	G	A	A	rs147369428	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:85478726G>A	uc002blg.3	+	14	1760	c.1558G>A	c.(1558-1560)Ggc>Agc	p.G520S	SLC28A1_uc010bnb.3_Missense_Mutation_p.G520S|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.G520S|SLC28A1_uc010upg.1_Missense_Mutation_p.G520S	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	520					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGTGGGTCGGCGACAGGAA	0.622000														212			24		0	0	1	0	0
WWTR1	25937	broad.mit.edu	37	3	149290715	149290715	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:149290715G>A	uc003exf.3	-	2	844	c.504C>T	c.(502-504)ctC>ctT	p.L168L	WWTR1_uc003exe.3_Silent_p.L168L|WWTR1_uc021xfm.1_Silent_p.L168L|WWTR1_uc003exh.3_Silent_p.L168L	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA.	168					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CGGCAGGGTGGAGGTTCATAT	0.418000			T	CAMTA1	epitheliod hemangioendothelioma									82			39		0	0	1	0	0
KCNIP4	80333	broad.mit.edu	37	4	20734318	20734318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:20734318C>T	uc021xmt.1	-	6	748	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	KCNIP4_uc003gqe.2_Missense_Mutation_p.E193K|KCNIP4_uc003gqf.1_Missense_Mutation_p.E189K|KCNIP4_uc003gqg.1_Missense_Mutation_p.E148K|KCNIP4_uc003gqh.1_Missense_Mutation_p.E185K|KCNIP4_uc003gqi.1_Missense_Mutation_p.E148K|KCNIP4_uc021xmu.1_Missense_Mutation_p.E176K|PACRGL_uc003gpu.3_Intron|KCNIP4_uc021xms.1_Missense_Mutation_p.E173K	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.	210	EF-hand 4.					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)				AAAAATGTTTCAACGTGTTGT	0.363000														47			24		0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5541334	5541334	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:5541334G>A	uc003soo.2	-	2	660	c.566C>T	c.(565-567)cCc>cTc	p.P189L	FBXL18_uc003son.4_Missense_Mutation_p.P189L	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	189									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GGTGCAGCAGGGCACCACGCC	0.662000														15			3		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257668	158257668	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:158257668T>A	uc003ipm.4	+	10	2072	c.1613T>A	c.(1612-1614)tTt>tAt	p.F538Y	GRIA2_uc011cit.2_Missense_Mutation_p.F491Y|GRIA2_uc003ipl.4_Missense_Mutation_p.F538Y|GRIA2_uc003ipk.4_Missense_Mutation_p.F491Y|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	538					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GTGTTTTCCTTTCTTGATCCT	0.448000														232			86		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236191	42236191	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:42236191G>A	uc003ose.2	-	4	1701	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*	TRERF1_uc011duq.1_Nonsense_Mutation_p.Q380*|TRERF1_uc003osb.2_Nonsense_Mutation_p.Q219*|TRERF1_uc003osc.2_Nonsense_Mutation_p.Q219*|TRERF1_uc003osd.2_Nonsense_Mutation_p.Q380*	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	380	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGGGCTCCTGGTAGTAGTAC	0.597000														105			28		0	0	1	0	0
NDUFB7	4713	broad.mit.edu	37	19	14682756	14682756	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:14682756G>A	uc002mzg.3	-	0	134	c.57C>T	c.(55-57)ccC>ccT	p.P19P		NM_004146	NP_004137	P17568	NDUB7_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa (NDUFB7), nuclear gene encoding mitochondrial protein, mRNA.	19					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8					NADH(DB00157)	GCATCTGCAGGGGGTCGGGCT	0.716000														15			4		0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68737434	68737434	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:68737434C>T	uc003jwq.3	+	6	1704	c.1630C>T	c.(1630-1632)Caa>Taa	p.Q544*	MARVELD2_uc010ixf.3_Nonsense_Mutation_p.Q532*|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	544					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		GCAAAGAATTCAAGAATATGA	0.249000														50			16		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44669131	44669131	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44669131G>A	uc010zxl.1	+	6	877	c.801G>A	c.(799-801)gtG>gtA	p.V267V	SLC12A5_uc002xra.2_Silent_p.V244V|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.V244V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	267					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGGCCACTGTGGTGTTTGTGG	0.537000														44			23		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175463	143175463	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143175463G>A	uc003wdc.1	+	0	498	c.498G>A	c.(496-498)ggG>ggA	p.G166G	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	166					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					AATTTTCTGGGAACATGACCT	0.383000														49			17		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85775660	85775660	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:85775660C>T	uc003dql.3	+	0	29	c.29C>T	c.(28-30)tCc>tTc	p.S10F	CADM2_uc003dqj.3_Intron|CADM2_uc003dqk.3_Intron|CADM2_uc003dqm.2_Intron|CADM2_uc021xay.1_Intron|CADM2_uc021xaz.1_Intron|CADM2_uc021xba.1_Intron	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	0					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TGCAACCTTTCCTTGGTACCA	0.348000														144			50		0	0	1	0	0
PNPLA5	150379	broad.mit.edu	37	22	44280179	44280179	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:44280179G>A	uc003beg.3	-	6	1129	c.996C>T	c.(994-996)ttC>ttT	p.F332F	PNPLA5_uc003beh.3_Silent_p.F218F|PNPLA5_uc021wqw.1_Silent_p.F332F|PNPLA5_uc021wqx.1_Silent_p.F218F|PNPLA5_uc011aqc.2_Silent_p.F192F	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.	332					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CCGAGTGCCAGAAGCGGGCCC	0.617000											OREG0026622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		113			10		0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8006979	8006979	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:8006979C>T	uc010qbd.2	+	2	1506	c.1506C>T	c.(1504-1506)ccC>ccT	p.P502P		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	502					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTCCCACTCCCGAACCTCTCC	0.443000														108			46		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34554765	34554765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34554765G>A	uc001bxm.1	-	1	394	c.217C>T	c.(217-219)Ccc>Tcc	p.P73S	CSMD2_uc001bxn.1_Missense_Mutation_p.P33S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	33	CUB 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCCCATTGGGACCGTGCAGT	0.532000														31			14		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830851	13830851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13830851C>T	uc003jfd.2	-	35	5958	c.5916G>A	c.(5914-5916)atG>atA	p.M1972I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1972	AAA 1 (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)					CCCCCATGCTCATTCCCAGAG	0.512000									Kartagener syndrome					74			32		0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8118269	8118269	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:8118269G>A	uc001mga.3	+	5	752	c.603G>A	c.(601-603)gaG>gaA	p.E201E	TUB_uc010rbk.2_Silent_p.E207E|TUB_uc001mfy.3_Silent_p.E256E	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	201	Asp/Glu-rich.				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGGATGAGGAGGATGAGGAGG	0.542000														74			18		0	0	1	0	0
TEX33	339669	broad.mit.edu	37	22	37397962	37397962	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37397962C>T	uc003aqf.3	-	2	551	c.405G>A	c.(403-405)acG>acA	p.T135T	TEX33_uc003aqe.3_Silent_p.T50T	NM_001163857	NP_848647	O43247	EAN57_HUMAN	Homo sapiens chromosome 22 open reading frame 33 (C22orf33), transcript variant 1, mRNA.	135																	CCTTCTGGTTCGTGGGCGTGC	0.622000														25			4		0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3679789	3679789	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3679789G>A	uc001akv.2	+	6	1153	c.1072G>A	c.(1072-1074)Ggt>Agt	p.G358S		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	358	Glu-rich.									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)		TGCCTGGGGAGGTGTGAGCCA	0.672000														5			5		0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14650966	14650966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:14650966C>T	uc001rbw.3	+	14	3930	c.3772C>T	c.(3772-3774)Cct>Tct	p.P1258S	ATF7IP_uc001rbx.3_Missense_Mutation_p.P1257S|ATF7IP_uc001rby.4_Missense_Mutation_p.P1258S|ATF7IP_uc001rca.3_Missense_Mutation_p.P1258S	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	1258	Fibronectin type-III.|Interaction with MBD1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTTCTGTGATCCTCAGTCAAC	0.408000														288			52		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45821719	45821719	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45821719C>T	uc010gpt.1	+	15	2577	c.2477C>T	c.(2476-2478)tCc>tTc	p.S826F	TRPM2_uc002zet.1_Missense_Mutation_p.S826F|TRPM2_uc002zeu.1_Missense_Mutation_p.S826F|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.S826F|TRPM2_uc002zex.1_Missense_Mutation_p.S612F|TRPM2_uc002zey.1_Missense_Mutation_p.S339F	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	826						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCTGTGCCCTCCTGGTGCGAG	0.632000														255			113		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56417688	56417688	+	Missense_Mutation	SNP	G	A	A	rs112177059		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:56417688G>A	uc003pcy.4	-	41	8141	c.8033C>T	c.(8032-8034)tCg>tTg	p.S2678L		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5090					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity	p.S5092L(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGATCCCAGCGAATCATGGAT	0.418000														217			39		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881311	228881311	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228881311G>A	uc002vpq.2	-	6	4306	c.4259C>T	c.(4258-4260)tCa>tTa	p.S1420L	SPHKAP_uc002vpp.2_Missense_Mutation_p.S1420L|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1420L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1420						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGAGCAAAGTGATCGCCTTTT	0.458000														106			52		0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25824819	25824819	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:25824819C>T	uc001bkk.3	+	10	2059	c.1857C>T	c.(1855-1857)gcC>gcT	p.A619A	TMEM57_uc009vru.3_Silent_p.A392A|TMEM57_uc009vrv.3_Silent_p.A261A	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	619						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		p.A619A(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTCATGGCCGTCATGCCCA	0.502000														93			38		0	0	1	0	0
C9orf129	445577	broad.mit.edu	37	9	96097715	96097715	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:96097715G>A	uc010mre.3	-	2	670	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001098808	NP_001092278	Q5T035	CI129_HUMAN	Homo sapiens chromosome 9 open reading frame 129 (C9orf129), mRNA.	102										endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						AAGAGCCAGGGAAGTAGGCGG	0.627000														36			12		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146350703	146350703	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:146350703C>T	uc010khw.1	+	1	520	c.50C>T	c.(49-51)tCc>tTc	p.S17F	GRM1_uc010khu.1_Missense_Mutation_p.S17F|GRM1_uc010khv.1_Missense_Mutation_p.S17F|GRM1_uc003qll.2_Missense_Mutation_p.S17F|GRM1_uc011edz.1_Missense_Mutation_p.S17F|GRM1_uc011eea.1_Missense_Mutation_p.S17F	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	17					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTGGAGGTGTCCCTTCTCCCC	0.602000														114			99		0	0	1	0	0
FAM78B	149297	broad.mit.edu	37	1	166135291	166135292	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:166135291_166135292GG>AA	uc021pef.1	-	0	667_668	c.194_195CC>TT	c.(193-195)acc>aTT	p.T65I	FAM78B_uc010plc.2_Non-coding_Transcript|FAM78B_uc021pee.1_Missense_Mutation_p.P44F	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	Homo sapiens family with sequence similarity 78, member B (FAM78B), mRNA.	65										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CCACCACCCAGGTCTCGTGGCG	0.649000														24			13		0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133175158	133175158	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:133175158G>A	uc002ttl.3	+	0	1012	c.543G>A	c.(541-543)gtG>gtA	p.V181V		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	181						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	p.V181V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCCCCTGGTGAACGTGCCCA	0.617000														62			19		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79092829	79092829	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:79092829C>T	uc002bej.4	-	1	372	c.161G>A	c.(160-162)gGg>gAg	p.G54E	ADAMTS7_uc010und.1_Missense_Mutation_p.G54E|ADAMTS7_uc002bek.1_Missense_Mutation_p.G54E	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	54					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GAAGGAGCCCCCCGCGTCGAC	0.672000														12			6		0	0	1	0	0
P2RX7	5027	broad.mit.edu	37	12	121593886	121593887	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:121593886_121593887AC>TT	uc001tzm.3	+	2	451_452	c.299_300AC>TT	c.(298-300)aac>aTT	p.N100I	P2RX7_uc001tzn.3_Missense_Mutation_p.N10I|P2RX7_uc001tzo.3_Non-coding_Transcript|P2RX7_uc001tzp.3_5'UTR|P2RX7_uc001tzq.3_5'UTR	NM_002562	NP_002553	A8K2Z0	A8K2Z0_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA.	100						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCACAGGGGAACTCTTTCTTCG	0.470000														95			39		0	0	1	0	0
ANO8	57719	broad.mit.edu	37	19	17442179	17442179	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17442179G>A	uc002ngf.2	-	5	787	c.628C>T	c.(628-630)Cct>Tct	p.P210S	ANO8_uc010eap.2_Non-coding_Transcript	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	210						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TCGTGGACAGGGAACACCTGC	0.637000														75			17		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20668326	20668326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:20668326G>A	uc010kuh.3	+	3	361	c.124G>A	c.(124-126)Gga>Aga	p.G42R		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	695	ABC transporter 1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.R41*(1)		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						CTTTGCTGATGGACTGGACAT	0.463000														36			7		0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118867030	118867030	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:118867030G>A	uc003ecb.1	+	1	1442	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.E468K	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	468										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ATTTCAGGATGAATTTTCAGA	0.363000														123			45		0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98288972	98288972	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:98288972C>T	uc003yhy.3	-	0	1205	c.1101G>A	c.(1099-1101)gaG>gaA	p.E367E		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	367					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CGTTGATTATCTCCACAATCT	0.463000														207			57		0	0	1	0	0
FABP2	2169	broad.mit.edu	37	4	120240735	120240735	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:120240735C>T	uc003icw.3	-	2	363	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K		NM_000134	NP_000125	P12104	FABPI_HUMAN	Homo sapiens fatty acid binding protein 2, intestinal (FABP2), mRNA.	102							fatty acid binding	p.E102K(2)|p.N101N(1)		breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						GTATTCAGTTCGTTTCCATTG	0.308000														53			23		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30926323	30926323	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:30926323G>A	uc010xbr.1	-	7	652	c.510C>T	c.(508-510)gcC>gcT	p.A170A	C18orf34_uc002kxn.2_Silent_p.A170A|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Silent_p.A170A|C18orf34_uc002kxp.3_Silent_p.A170A	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	170										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						TGAGACGAATGGCCTCTGAGA	0.338000														91			34		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582174	82582174	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82582174G>A	uc003uhx.2	-	4	8384	c.8095C>T	c.(8095-8097)Cct>Tct	p.P2699S	PCLO_uc003uhv.2_Missense_Mutation_p.P2699S|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2630					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						GGCTCTGGAGGAATTGTTATG	0.403000														44			17		0	0	1	0	0
CLEC2L	154790	broad.mit.edu	37	7	139225185	139225185	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:139225185C>T	uc010lnd.3	+	2	384	c.384C>T	c.(382-384)tgC>tgT	p.C128C		NM_001080511	NP_001073980	P0C7M8	CLC2L_HUMAN	Homo sapiens C-type lectin domain family 2, member L (CLEC2L), mRNA.	128	C-type lectin.					integral to membrane	sugar binding			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					GGCAGTACTGCCACACCCACG	0.622000														6			10		0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613922	14613922	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:14613922C>T	uc001rbw.3	+	8	2810	c.2652C>T	c.(2650-2652)gcC>gcT	p.A884A	ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.3_Silent_p.A884A|ATF7IP_uc001rbv.1_Silent_p.A883A|ATF7IP_uc001rbx.3_Silent_p.A883A|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.4_Silent_p.A884A|ATF7IP_uc001rca.3_Silent_p.A884A	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	884					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTGTACAAGCCACAAGGACTT	0.458000														32			7		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18554486	18554486	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:18554486G>A	uc001bau.2	+	1	548	c.165G>A	c.(163-165)cgG>cgA	p.R55R		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	55	Ig-like 1.					extracellular region		p.R55W(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GGCGCATGCGGGAGATCGTGT	0.582000														66			35		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21552453	21552454	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:21552453_21552454GG>AA	uc003cce.3	-	3	746_747	c.338_339CC>TT	c.(337-339)gcc>gTT	p.A113V	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	113						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TATTTTTCATGGCTTCCAGTGC	0.465000														77			29		0	0	1	0	0
KHSRP	8570	broad.mit.edu	37	19	6421694	6421694	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6421694G>A	uc002mer.4	-	2	462	c.352C>T	c.(352-354)Ccg>Tcg	p.P118S		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA.	118	Gly-rich.				RNA splicing, via transesterification reactions|mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TTGCTCTCCGGTTGATCTGGG	0.582000														109			32		0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43668391	43668391	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43668391C>T	uc001zro.3	+	1	414	c.174C>T	c.(172-174)ttC>ttT	p.F58F	TUBGCP4_uc001zrn.3_Silent_p.F58F|TUBGCP4_uc010bdh.3_5'Flank	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	58					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	p.F58L(2)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TCACTGAGTTCATTGAACAGT	0.542000											OREG0023088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		89			43		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38950520	38950520	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38950520C>T	uc021wvy.1	-	8	1466	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	423					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGCTGGGCTTCCTGAAACATC	0.512000														174			60		0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242151616	242151616	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242151616G>A	uc002wax.2	+	15	1934	c.1831G>A	c.(1831-1833)Ggc>Agc	p.G611S		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	611						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTTCTTCAAGGGCAGGTTGGT	0.582000														60			20		0	0	1	0	0
ZNF558	148156	broad.mit.edu	37	19	8931968	8931968	+	Silent	SNP	G	A	A	rs143685735	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8931968G>A	uc002mkn.1	-	2	365	c.135C>T	c.(133-135)ttC>ttT	p.F45F	ZNF558_uc010xkh.1_5'UTR|ZNF558_uc010dwg.1_Silent_p.F45F	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CCACATCCTCGAAGGTTACCA	0.587000														97			53		0	0	1	0	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086676	46086676	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46086676G>A	uc002zfu.3	-	0	169	c.128C>T	c.(127-129)tCc>tTc	p.S43F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	Homo sapiens keratin associated protein 12-2 (KRTAP12-2), mRNA.	43	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						CACACACACGGAGGACTGGCA	0.657000														45			15		0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129321287	129321287	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:129321287C>T	uc001qfc.4	+	3	880	c.830C>T	c.(829-831)cCa>cTa	p.P277L		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	277										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GAACCCCCACCATTAAGCTAA	0.542000														65			25		0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44843419	44843419	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:44843419C>T	uc003cnx.4	+	12	1611	c.1462C>T	c.(1462-1464)Cgt>Tgt	p.R488C	KIF15_uc010hiq.3_Missense_Mutation_p.R391C|KIF15_uc003cny.1_Missense_Mutation_p.R123C	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	488					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GGAGCAGGATCGTTTGCTCTC	0.378000														34			13		0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53679563	53679563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:53679563G>A	uc002ehp.3	-	16	2721	c.2657C>T	c.(2656-2658)tCg>tTg	p.S886L	RPGRIP1L_uc002eho.4_Missense_Mutation_p.S886L|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.S886L|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.S886L|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.S886L	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	886					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATGTGCCAACGAAATCAGAGG	0.328000														40			15		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110478892	110478892	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110478892C>T	uc003yne.3	+	49	8603	c.8499C>T	c.(8497-8499)ttC>ttT	p.F2833F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2833					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S2832N(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)			GCATTGGGTTCCCTGGATCAG	0.478000										HNSCC(38;0.096)				15			6		0	0	1	0	0
APOBEC1	339	broad.mit.edu	37	12	7805044	7805044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7805044C>T	uc001qtb.3	-	2	466	c.432G>A	c.(430-432)atG>atA	p.M144I	APOBEC1_uc001qtc.3_Missense_Mutation_p.M99I	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	144					DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	RNA binding|cytidine deaminase activity|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTGATGCTCTCATAATCTGAA	0.418000														54			12		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49812809	49812809	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:49812809C>T	uc001jgu.3	-	1	331	c.34_splice	c.e1+1	p.A12_splice	ARHGAP22_uc001jgt.3_Splice_Site_p.A12_splice|ARHGAP22_uc010qgl.2_Splice_Site_p.A12_splice|ARHGAP22_uc010qgm.2_Intron|ARHGAP22_uc001jgv.3_Intron	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	12					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGACTTACCCCTCCTGGCCT	0.612000														77			19		0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214178524	214178524	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:214178524C>T	uc001hkh.3	+	2	2014	c.1742C>T	c.(1741-1743)tCa>tTa	p.S581L		NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	581					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAAGGATTGTCACCCAATCAC	0.463000														64			24		0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71690162	71690162	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:71690162C>T	uc001jql.3	+	28	2040	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C	COL13A1_uc021prz.1_Missense_Mutation_p.R480C|COL13A1_uc021psa.1_Missense_Mutation_p.R445C|COL13A1_uc021psb.1_Missense_Mutation_p.R451C|COL13A1_uc001jqk.2_Missense_Mutation_p.R480C|COL13A1_uc021psc.1_Missense_Mutation_p.R483C|COL13A1_uc021psd.1_Missense_Mutation_p.R480C|COL13A1_uc010qjf.2_Missense_Mutation_p.R445C|COL13A1_uc021pse.1_Missense_Mutation_p.R451C|COL13A1_uc021psf.1_Missense_Mutation_p.R502C|COL13A1_uc021psg.1_Missense_Mutation_p.R480C|COL13A1_uc021psh.1_Missense_Mutation_p.R483C	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	502	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AAAGGGACCTCGCGGTAAACC	0.537000														25			11		0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44626787	44626787	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:44626787G>A	uc021xnx.1	-	4	528	c.511C>T	c.(511-513)Cag>Tag	p.Q171*		NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA.	171						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						TAACCAAACTGAACTTTTCCT	0.468000														15			6		0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70818641	70818641	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:70818641C>T	uc003kbp.1	+	23	5515	c.5252C>T	c.(5251-5253)tCc>tTc	p.S1751F	BDP1_uc003kbo.3_Missense_Mutation_p.S1751F|BDP1_uc003kbq.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1751					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGTGTAGGTTCCAAAGAGTCT	0.378000														74			26		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50217819	50217819	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:50217819G>A	uc002xwg.1	-	27	3075	c.3075C>T	c.(3073-3075)ctC>ctT	p.L1025L	ATP9A_uc010gih.1_Silent_p.L889L|ATP9A_uc002xwf.1_Silent_p.L197L	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	1025					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CATAGAGGGGGAGGCAGCTGA	0.567000														35			18		0	0	1	0	0
SEC1	653677	broad.mit.edu	37	19	49183691	49183691	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49183691G>A	uc010xzv.2	+	4	838	c.711G>A	c.(709-711)ccG>ccA	p.P237P	SEC1_uc002pka.3_Silent_p.P197P|SEC1_uc010xzw.2_Silent_p.P154P|SEC1_uc010ema.3_Silent_p.P143P					Homo sapiens secretory blood group 1 (SEC1), non-coding RNA.																		GCCACATCCCGGGGCGCTGTG	0.657000														31			18		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28436193	28436193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:28436193G>A	uc001zbj.3	-	54	8673	c.8567C>T	c.(8566-8568)tCc>tTc	p.S2856F	HERC2_uc001zbk.1_Missense_Mutation_p.S391F	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2856	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTTATTCAGGGAATTTCCACC	0.368000														45			11		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37774261	37774261	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:37774261G>A	uc003chd.3	+	18	2179	c.2126G>A	c.(2125-2127)gGa>gAa	p.G709E		NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	709					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TGCAGCGTGGGATTTCCTTTC	0.562000														17			3		0	0	1	0	0
PNPLA5	150379	broad.mit.edu	37	22	44277460	44277460	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:44277460C>T	uc003beg.3	-	7	1310	c.1177G>A	c.(1177-1179)Gcc>Acc	p.A393T	PNPLA5_uc003beh.3_Missense_Mutation_p.A279T|PNPLA5_uc021wqw.1_Missense_Mutation_p.A393T|PNPLA5_uc021wqx.1_Missense_Mutation_p.A279T|PNPLA5_uc011aqc.2_Missense_Mutation_p.A253T	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.	393					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGGAGCTGGGCCTTGGTCCTG	0.662000														8			3		0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139548	3139548	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3139548C>T	uc002ctv.1	-	4	1810	c.1722G>A	c.(1720-1722)acG>acA	p.T574T	ZSCAN10_uc002cty.1_Silent_p.T235T|ZSCAN10_uc002ctw.1_Silent_p.T492T|ZSCAN10_uc002ctx.1_Silent_p.T502T	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	574					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GCTTCTCGCCCGTGTGGCTGC	0.711000														10			3		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198713186	198713186	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:198713186C>T	uc001gur.1	+	25	2875	c.2695C>T	c.(2695-2697)Cag>Tag	p.Q899*	PTPRC_uc001gut.1_Nonsense_Mutation_p.Q738*	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	899	Tyrosine-protein phosphatase 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATTGTAGGCCCAGTACATCTT	0.328000														41			10		0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154687474	154687474	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154687474C>T	uc021pah.1	-	6	2066	c.1752G>A	c.(1750-1752)aaG>aaA	p.K584K	KCNN3_uc001ffo.3_Silent_p.K264K|KCNN3_uc001ffp.3_Silent_p.K569K	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	574	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CTGCAGCATTCTTGATCTAAG	0.393000														99			29		0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146807044	146807044	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:146807044G>A	uc003ikn.3	-	3	1581	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	ZNF827_uc003ikm.3_Silent_p.S511S|ZNF827_uc010iox.3_Silent_p.S161S	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CCCCTCCCTGGCTAGTCCTCT	0.602000														54			22		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155724215	155724215	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155724215G>A	uc001flz.2	-	27	5679	c.5582C>T	c.(5581-5583)tCc>tTc	p.S1861F	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Intron|GON4L_uc001fly.1_Missense_Mutation_p.S1861F|GON4L_uc009wrh.1_Missense_Mutation_p.S1861F|GON4L_uc001fma.1_Missense_Mutation_p.S1861F|GON4L_uc001fmb.4_Missense_Mutation_p.S1057F	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1861					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTTCAGCTTGGAATCTGGACC	0.542000														178			21		0	0	1	0	0
OOEP	441161	broad.mit.edu	37	6	74079371	74079371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:74079371G>A	uc003pgu.4	-	0	145	c.145C>T	c.(145-147)Cct>Tct	p.P49S	OOEP_uc003pgv.4_Intron	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	Homo sapiens oocyte expressed protein homolog (dog) (OOEP), mRNA.	49	KH; atypical.					cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						AACACCAAAGGGTCTCTCAGT	0.612000														103			14		0	0	1	0	0
CIRH1A	84916	broad.mit.edu	37	16	69184802	69184802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:69184802C>T	uc002ews.4	+	7	1093	c.997C>T	c.(997-999)Ccc>Tcc	p.P333S	CIRH1A_uc002ewr.2_Missense_Mutation_p.P333S|CIRH1A_uc002ewt.4_Missense_Mutation_p.P250S|CIRH1A_uc010cfi.3_Missense_Mutation_p.P250S|CIRH1A_uc010cfj.1_Missense_Mutation_p.P152S	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.	333						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		AATCACCTTTCCCCACGTAAG	0.542000														61			18		0	0	1	0	0
C2orf51	200523	broad.mit.edu	37	2	88828854	88828854	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:88828854C>T	uc002stb.2	+	3	547	c.405C>T	c.(403-405)ctC>ctT	p.L135L		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	Homo sapiens chromosome 2 open reading frame 51 (C2orf51), mRNA.	135						nucleus				large_intestine(2)|lung(11)|prostate(1)|skin(1)	15						TTCCGTGCCTCGTGGATCCCA	0.572000														62			29		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21992264	21992265	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21992264_21992265CC>TT	uc001wbe.3	-	1	1879_1880	c.1597_1598GG>AA	c.(1597-1599)ggc>AAc	p.G533N	SALL2_uc010tly.2_Missense_Mutation_p.G531N|SALL2_uc010tlz.1_Missense_Mutation_p.G396N|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.G398N|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	533							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GATGGCTGAGCCCTCACTCCCT	0.520000														66			7		0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53340208	53340208	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:53340208C>T	uc002ehb.3	+	30	6843	c.6679C>T	c.(6679-6681)Cag>Tag	p.Q2227*	CHD9_uc002egy.3_Nonsense_Mutation_p.Q2227*|CHD9_uc002ehc.3_Nonsense_Mutation_p.Q2228*|CHD9_uc002ehf.3_Nonsense_Mutation_p.Q1341*|CHD9_uc002ehg.2_Nonsense_Mutation_p.Q1342*|CHD9_uc010cbw.3_Nonsense_Mutation_p.Q293*	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2227					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAGCACTACCCAGGATGAGAC	0.398000														48			25		0	0	1	0	0
KLF14	136259	broad.mit.edu	37	7	130418345	130418345	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:130418345C>T	uc003vqk.2	-	0	544	c.516G>A	c.(514-516)ggG>ggA	p.G172G		NM_138693	NP_619638	Q8TD94	KLF14_HUMAN	Homo sapiens Kruppel-like factor 14 (KLF14), mRNA.	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					CGGGGCCTGCCCCTAGGGCCC	0.741000														13			3		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167020477	167020477	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:167020477C>T	uc003irh.2	+	19	3352	c.2705C>T	c.(2704-2706)tCa>tTa	p.S902L	TLL1_uc011cjn.2_Missense_Mutation_p.S925L|TLL1_uc011cjo.2_Missense_Mutation_p.S726L	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	902	CUB 5.				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)		GATCTGTACTCACATGCTCAG	0.443000														145			70		0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7254553	7254553	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7254553G>A	uc001qsn.3	-	2	524	c.431C>T	c.(430-432)tCc>tTc	p.S144F	C1RL_uc009zft.3_Missense_Mutation_p.S144F|C1RL_uc001qso.2_Missense_Mutation_p.S144F	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	144	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTTCTCCGAGGAAGGCTGTGT	0.622000														108			37		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102712909	102712909	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102712909C>T	uc001phj.1	-	3	666	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	201					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GTCCATTGTTCATCATCATCA	0.393000														60			29		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76900491	76900491	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:76900491C>T	uc001oyb.2	+	27	3878	c.3606C>T	c.(3604-3606)ttC>ttT	p.F1202F	MYO7A_uc010rsm.1_Silent_p.F1191F|MYO7A_uc001oyc.2_Silent_p.F1202F|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.F413F	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1202	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						TGGGCTGTTTCGCCCCCTCCG	0.607000														79			32		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129070689	129070689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:129070689G>A	uc003kvb.1	+	21	3359	c.3359G>A	c.(3358-3360)gGa>gAa	p.G1120E	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.	1120	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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)		AAGATCACAGGAAGACATGGA	0.388000														77			25		0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976080	4976080	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4976080C>T	uc010qyt.2	-	0	864	c.864G>A	c.(862-864)atG>atA	p.M288I		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	288			M -> T (in dbSNP:rs2442426).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)		CAATTGGTTTCATCAGCGGAG	0.418000														64			38		0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151597688	151597688	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151597688G>A	uc003ezf.2	+	1	113	c.8G>A	c.(7-9)gGg>gAg	p.G3E		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	3						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GACATGCTGGGGATCATGGTA	0.343000														67			16		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294911	5294911	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:5294911G>A	uc010zqw.2	-	0	113	c.105C>T	c.(103-105)ctC>ctT	p.L35L	PROKR2_uc010zqx.2_Silent_p.L35L|PROKR2_uc010zqy.2_Silent_p.L35L|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	35						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CATCCATAGGGAGGTCATAAT	0.517000										HNSCC(71;0.22)				91			16		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135441522	135441522	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:135441522G>A	uc004ezu.1	+	10	7343	c.7052G>A	c.(7051-7053)aGt>aAt	p.S2351N	GPR112_uc010nsb.1_Missense_Mutation_p.S2146N|GPR112_uc010nsc.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2351					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.K2350R(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAAATCAAAAGTAAAATACAT	0.338000														41			73		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275978	152275978	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152275978C>T	uc001ezu.1	-	2	11420	c.11384G>A	c.(11383-11385)gGa>gAa	p.G3795E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3795	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G3795*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCAGACCTTCCCTGGGATGT	0.577000									Ichthyosis					490			195		0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477672	88477672	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:88477672G>A	uc021rxh.1	+	0	481	c.481G>A	c.(481-483)Gat>Aat	p.D161N	GPR65_uc001xvv.3_Missense_Mutation_p.D161N	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	161					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	p.D161N(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TGAATATTGCGATGCCGAAAA	0.393000														146			42		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834534	101834534	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:101834534G>A	uc003knn.3	-	0	187	c.15C>T	c.(13-15)gtC>gtT	p.V5V	SLCO6A1_uc003kno.3_Silent_p.V5V|SLCO6A1_uc003knp.3_Silent_p.V5V|SLCO6A1_uc003knq.3_Silent_p.V5V	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	5						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGTGCCGGGCGACGCCTACGA	0.706000														193			29		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152521994	152521994	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152521994C>T	uc021vrb.1	-	39	5120	c.5091G>A	c.(5089-5091)gaG>gaA	p.E1697E	NEB_uc002txu.3_Silent_p.E1697E|NEB_uc021vrc.1_Silent_p.E1697E|NEB_uc010fnx.3_Silent_p.E1697E|NEB_uc021vrd.1_Silent_p.E1697E	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1697					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTCCAGGGACTCTATGGGCA	0.448000														14			7		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79983001	79983001	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:79983001C>T	uc004akr.3	+	61	8762	c.8502C>T	c.(8500-8502)ttC>ttT	p.F2834F	VPS13A_uc004akp.4_Silent_p.F2834F|VPS13A_uc004akq.4_Silent_p.F2834F|VPS13A_uc004aks.3_Silent_p.F2795F	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2834					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACTATCAGTTCCATACAACAT	0.328000														29			6		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520004	131520004	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:131520004C>T	uc021voy.1	+	0	359	c.359C>T	c.(358-360)tCc>tTc	p.S120F	FAM123C_uc002trw.2_Missense_Mutation_p.S120F|FAM123C_uc010fmv.2_Missense_Mutation_p.S120F|FAM123C_uc010fms.1_Missense_Mutation_p.S120F|FAM123C_uc010fmt.1_Missense_Mutation_p.S120F|FAM123C_uc010fmu.1_Missense_Mutation_p.S120F	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	120										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		TTCCCGGGCTCCCCGGGCAGC	0.642000														23			12		0	0	1	0	0
CST9	128822	broad.mit.edu	37	20	23584308	23584308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:23584308C>T	uc002wtl.3	-	1	428	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_001008693	NP_001008693	Q5W186	CST9_HUMAN	Homo sapiens cystatin 9 (testatin) (CST9), mRNA.	107						extracellular region	cysteine-type endopeptidase inhibitor activity	p.F106L(1)		central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					ATGTCATCTTCAAATTTCCTA	0.473000														221			15		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305292	54305292	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54305292G>A	uc021smr.1	+	0	192	c.192G>A	c.(190-192)aaG>aaA	p.K64K	UNC13C_uc021sms.1_Silent_p.K64K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	64					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)		GCACTGTAAAGAAGATTGCAA	0.423000														56			12		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117243663	117243663	+	Missense_Mutation	SNP	C	T	T	rs121909034	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:117243663C>T	uc003vjd.3	+	16	2867	c.2735C>T	c.(2734-2736)tCg>tTg	p.S912L	CFTR_uc011knq.2_Missense_Mutation_p.S318L	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	912	ABC transmembrane type-1 2.		S -> L.		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AGCACCAGTTCGTATTATGTG	0.418000									Cystic Fibrosis					109			9		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17488851	17488851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17488851C>T	uc002zlw.3	-	0	262	c.154G>A	c.(154-156)Gag>Aag	p.E52K	GAB4_uc010gqs.1_Missense_Mutation_p.E52K	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	52	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AGCTTCTTCTCGGGGGGCGAC	0.687000														14			6		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337321	19337321	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19337321G>A	uc002nlz.3	+	6	1198	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N	NCAN_uc010ecc.1_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	367					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ACAACATGGAGACCTAGAGAC	0.577000														91			13		0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974783	49974783	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:49974783C>T	uc010rhz.2	+	0	841	c.809C>T	c.(808-810)gCt>gTt	p.A270V		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AAAGCAGTTGCTGTATTCTAC	0.378000														91			26		0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76980019	76980019	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:76980019C>T	uc001oyf.3	-	7	825	c.574G>A	c.(574-576)Gag>Aag	p.E192K		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	192					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CCCAAATTCTCCTTCTCCTGA	0.453000														126			42		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588113	204588113	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204588113C>T	uc021phy.1	-	0	1008	c.1008G>A	c.(1006-1008)caG>caA	p.Q336Q	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Silent_p.Q336Q|LRRN2_uc001hbf.1_Silent_p.Q336Q|LRRN2_uc009xbf.1_Silent_p.Q336Q|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	336					cell adhesion	integral to membrane	receptor activity	p.Q336K(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGGTCTCCATCTGGGGCAGGT	0.612000														26			6		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10645331	10645331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:10645331C>T	uc010rcc.1	-	9	1827	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	MRVI1_uc010rcb.1_Missense_Mutation_p.E473K|MRVI1_uc001miw.2_Missense_Mutation_p.E472K|MRVI1_uc001mix.3_Missense_Mutation_p.E166K|MRVI1_uc001miz.2_Missense_Mutation_p.E390K|MRVI1_uc010rcd.1_Missense_Mutation_p.E275K|MRVI1_uc009ygd.1_Missense_Mutation_p.E166K|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	454					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTACCTTTTTCCTGCTCAGCT	0.468000														72			19		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22191364	22191364	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22191364G>A	uc009vqd.3	-	35	4641	c.4601C>T	c.(4600-4602)cCg>cTg	p.P1534L	HSPG2_uc001bfj.3_Missense_Mutation_p.P1533L	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1533	Laminin EGF-like 9; second part.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTAGCCTGGCGGGCAGCGGCA	0.687000														22			4		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381070	147381070	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:147381070G>A	uc021ovm.1	+	0	988	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	GJA8_uc001epu.2_Missense_Mutation_p.E330K	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	330					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGGGGCACAAGAAGTGGAGGG	0.617000														17			3		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306412	54306412	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54306412G>A	uc021smr.1	+	0	1312	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	UNC13C_uc021sms.1_Missense_Mutation_p.E438K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	438					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)		GTCTACTCCAGAGCCAAAAAT	0.408000														71			39		0	0	1	0	0
ZNF358	140467	broad.mit.edu	37	19	7584262	7584262	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7584262C>T	uc002mgn.2	+	1	304	c.134C>T	c.(133-135)cCt>cTt	p.P45L	ZNF358_uc021unu.1_Missense_Mutation_p.P45L	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	45					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GACCCAGAGCCTGATCCTGAA	0.582000														73			36		0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71576875	71576875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71576875C>T	uc002shx.3	+	1	1114	c.791C>T	c.(790-792)cCt>cTt	p.P264L	ZNF638_uc010fec.2_Missense_Mutation_p.P370L|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.P264L|ZNF638_uc002shz.3_Missense_Mutation_p.P264L|ZNF638_uc002shy.3_Missense_Mutation_p.P264L|ZNF638_uc002sia.3_Missense_Mutation_p.P264L|ZNF638_uc002sib.1_Missense_Mutation_p.P264L	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	264					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTATGTTTCCTGTTGAAGAC	0.428000														147			58		0	0	1	0	0
AK124970	0	broad.mit.edu	37	1	224190263	224190263	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:224190263C>T	uc001hog.1	+	0		c.655C>T								Homo sapiens cDNA FLJ42980 fis, clone BRTHA2006735.																		AGGTGGTGTTCAGTTGCTGCT	0.378000														117			35		0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90427414	90427414	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:90427414C>T	uc001kfg.2	+	2	308	c.194C>T	c.(193-195)cCt>cTt	p.P65L	LIPF_uc009xtk.3_Missense_Mutation_p.P65L|LIPF_uc001kfh.2_Missense_Mutation_p.P75L|LIPF_uc010qmt.2_Missense_Mutation_p.P75L|LIPF_uc010qmu.2_Missense_Mutation_p.P65L	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	65					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		AATAGAATTCCTTATGGGAAG	0.353000														133			26		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179441006	179441006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179441006C>T	uc021vsy.1	-	274	62374	c.62149G>A	c.(62149-62151)Gag>Aag	p.E20717K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E14412K|TTN_uc021vta.1_Missense_Mutation_p.E14345K|TTN_uc021vtb.1_Missense_Mutation_p.E14220K|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21644	Fibronectin type-III 50.						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)			ATCCAGGCCTCGTCTCCTACT	0.443000														42			25		0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141295889	141295889	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:141295889C>T	uc010huq.1	+	14	1531	c.1531C>T	c.(1531-1533)Cgt>Tgt	p.R511C	RASA2_uc003etz.1_Missense_Mutation_p.R511C|RASA2_uc003eua.1_Missense_Mutation_p.R511C|RASA2_uc011bnc.1_Missense_Mutation_p.R103C	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	511	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding	p.L510I(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TGTATTTCTTCGTTTCTTTGC	0.358000														136			53		0	0	1	0	0
TST	7263	broad.mit.edu	37	22	37407121	37407121	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37407121G>A	uc003aqg.3	-	1	1536	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	TST_uc003aqh.3_Missense_Mutation_p.R281C	NM_003312	NP_003303	Q16762	THTR_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese) (TST), nuclear gene encoding mitochondrial protein, mRNA.	281	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GGGGCCCGGCGAAACCACTCG	0.642000														93			46		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156747679	156747679	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156747679C>T	uc021ygm.1	+	14	1675	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	CYFIP2_uc011ddn.2_Nonsense_Mutation_p.R488*|CYFIP2_uc011ddo.2_Nonsense_Mutation_p.R318*|CYFIP2_uc021ygn.1_Nonsense_Mutation_p.R513*|CYFIP2_uc021ygo.1_Nonsense_Mutation_p.R513*|CYFIP2_uc003lwt.3_Nonsense_Mutation_p.R392*|CYFIP2_uc011ddp.2_Nonsense_Mutation_p.R248*	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	514					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGGCAATTCGAAAGACCAT	0.532000														46			24		0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058019	56058019	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56058019G>A	uc010rje.2	-	0	520	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AAAAAGTGACGAACTACATTT	0.438000														77			30		0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995648	57995648	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57995648G>A	uc010rkd.2	-	0	743	c.700C>T	c.(700-702)Cgt>Tgt	p.R234C		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TCGGCAGAACGGATGCTCAGG	0.627000														47			20		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45132974	45132974	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:45132974G>A	uc003com.3	-	6	1819	c.1684C>T	c.(1684-1686)Ccc>Tcc	p.P562S		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	562						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCCCAGTTGGGGGTCCTCAGG	0.572000														15			6		0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207196053	207196053	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207196053C>T	uc001hfd.2	-	3	1315	c.1056G>A	c.(1054-1056)gaG>gaA	p.E352E	C1orf116_uc009xcb.1_Silent_p.E106E|C1orf116_uc021pii.1_Silent_p.E106E	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	352						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GCCCCAGCTTCTCTAGAGCTT	0.572000														89			13		0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52714601	52714601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52714601C>T	uc002pyp.3	+	3	654	c.359C>T	c.(358-360)tCg>tTg	p.S120L	PPP2R1A_uc010ydk.2_Missense_Mutation_p.S65L|PPP2R1A_uc010epm.1_Missense_Mutation_p.S160L|PPP2R1A_uc002pyq.3_5'UTR	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	120	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.S120L(2)|p.S120S(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CACGAGCACTCGCCCTCTGAC	0.662000			Mis		clear cell ovarian carcinoma									89			10		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51984482	51984482	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51984482G>A	uc002abh.3	+	6	1220	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	SCG3_uc010ufz.2_Missense_Mutation_p.E41K	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	273				EEL -> RDF (in Ref. 1; AAD44483).	platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		CAACTTTGAGGAACTCCAATA	0.383000														89			53		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47344548	47344548	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:47344548G>A	uc003tnw.3	-	20	3062	c.2704C>T	c.(2704-2706)Ccc>Tcc	p.P902S	TNS3_uc022acn.1_Missense_Mutation_p.P459S	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	902						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGTCCGATGGGGCTCTCTGAC	0.597000														38			14		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140423	56140423	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:56140423G>A	uc002xyn.4	+	9	1595	c.1432G>A	c.(1432-1434)Gac>Aac	p.D478N	PCK1_uc010zzm.2_Missense_Mutation_p.D161N	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	478					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CATCATGCATGACCCCTTTGC	0.502000														80			35		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6697558	6697558	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6697558C>T	uc002mfm.3	-	20	2655	c.2593G>A	c.(2593-2595)Gaa>Aaa	p.E865K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	865					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGGAGTAGTTCCACCCTCACC	0.612000														37			9		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120568516	120568516	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:120568516G>A	uc001txo.3	-	55	7618	c.7605C>T	c.(7603-7605)ctC>ctT	p.L2535L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2535					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGTCTCATGAGAAAGCCCA	0.607000														66			6		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553072	140553072	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140553072C>T	uc003lit.3	+	0	830	c.656C>T	c.(655-657)tCt>tTt	p.S219F		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	219	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G218S(1)|p.G218C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGGCGGCTCTCCTCCAAGA	0.547000														68			20		0	0	1	0	0
MYL9	10398	broad.mit.edu	37	20	35177519	35177519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:35177519C>T	uc002xfl.1	+	3	480	c.386C>T	c.(385-387)aCc>aTc	p.T129I	BC039668_uc002xfk.3_Intron|MYL9_uc002xfm.1_Missense_Mutation_p.T75I	NM_006097	NP_006088	P24844	MYL9_HUMAN	Homo sapiens myosin, light chain 9, regulatory (MYL9), transcript variant 1, mRNA.	129	EF-hand 2.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CTGCTCACCACCATGGGTGAC	0.582000														60			23		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76732370	76732370	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:76732370C>T	uc001jwn.1	+	6	1527	c.1034C>T	c.(1033-1035)cCg>cTg	p.P345L	KAT6B_uc001jwm.1_Missense_Mutation_p.P345L|KAT6B_uc001jwo.1_Missense_Mutation_p.P345L|KAT6B_uc001jwp.1_Missense_Mutation_p.P345L	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	345					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										ATTGGACGACCGAAAAATAAA	0.338000														158			53		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27672907	27672907	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27672907C>A	uc002rku.3	-	35	4059	c.4008G>T	c.(4006-4008)ctG>ctT	p.L1336L	IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1336					cilium assembly	cilium	binding	p.V1335I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GTCCTACAGCCAGAACGACTT	0.473000														55			18		3.41278e-10	3.4251e-10	1	1	0
TSPEAR	54084	broad.mit.edu	37	21	45947202	45947202	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45947202G>A	uc002zfe.1	-	6	1188	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A	TSPEAR_uc010gpv.1_Silent_p.A306A	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	374					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AATGCCTCCAGGCCTGTGCTT	0.562000														96			16		0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142681068	142681068	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:142681068A>G	uc003evg.3	-	0	1111	c.1111T>C	c.(1111-1113)Tcc>Ccc	p.S371P	PAQR9_uc003evf.1_Non-coding_Transcript	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	Homo sapiens progestin and adipoQ receptor family member IX (PAQR9), mRNA.	371						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CAGAATTCGGAGCTGTTTAGG	0.537000														126			39		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122809232	122809232	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:122809232C>T	uc003vkm.3	-	3	548	c.523G>A	c.(523-525)Gga>Aga	p.G175R	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	175						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTGGTTGATCCGTTGAAGTAA	0.473000														45			14		0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25585324	25585324	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:25585324G>A	uc001zaq.3	-	12	3175	c.2415C>T	c.(2413-2415)ttC>ttT	p.F805F	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Silent_p.F782F|UBE3A_uc001zas.3_Silent_p.F802F|UBE3A_uc001zat.3_Silent_p.F782F	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	805	HECT.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TAAACTGCAAGAAGAGTCTTT	0.393000														98			24		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81568677	81568677	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81568677G>A	uc001szl.1	+	7	1300	c.1209G>A	c.(1207-1209)caG>caA	p.Q403Q	ACSS3_uc001szm.1_Silent_p.Q402Q|ACSS3_uc001szn.1_Silent_p.Q85Q	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	403						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TCCGTCAACAGGACCCTGGGG	0.493000														59			13		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940784	22940784	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22940784G>A	uc021urt.1	-	3	2082	c.1927C>T	c.(1927-1929)Cat>Tat	p.H643Y		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTCCAGTATGAATTATCTCA	0.363000														68			21		0	0	1	0	0
IFITM5	387733	broad.mit.edu	37	11	298534	298534	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:298534G>A	uc001low.1	-	1	402	c.366C>T	c.(364-366)ttC>ttT	p.F122F		NM_001025295	NP_001020466	A6NNB3	IFM5_HUMAN	Homo sapiens interferon induced transmembrane protein 5 (IFITM5), mRNA.	122					multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane				lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACTTGGTGCTGAAGAAGGCGG	0.672000														23			13		0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161044144	161044144	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161044144C>T	uc001fxo.2	-	5	1319	c.1020G>A	c.(1018-1020)ggG>ggA	p.G340G	PVRL4_uc010pjy.1_Silent_p.G19G|PVRL4_uc010pjz.1_Silent_p.G74G	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	340					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCACCTGCTTCCCAGAGTCTT	0.612000														57			28		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102045066	102045066	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:102045066A>C	uc001tii.3	+	13	1486	c.1346A>C	c.(1345-1347)gAa>gCa	p.E449A	MYBPC1_uc001tif.2_Missense_Mutation_p.E462A|MYBPC1_uc001tig.3_Missense_Mutation_p.E474A|MYBPC1_uc010svr.2_Missense_Mutation_p.E449A|MYBPC1_uc010svs.2_Missense_Mutation_p.E449A|MYBPC1_uc001tij.3_Missense_Mutation_p.E449A|MYBPC1_uc010svt.2_Missense_Mutation_p.E437A|MYBPC1_uc010svu.2_Missense_Mutation_p.E430A|MYBPC1_uc001tik.3_Missense_Mutation_p.E423A|MYBPC1_uc001tih.3_Missense_Mutation_p.E474A|MYBPC1_uc010svq.2_Missense_Mutation_p.E436A	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	449	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CTTGGAAAAGAAATCTGCCTG	0.418000														121			36		0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6635479	6635479	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6635479C>T	uc001qoo.2	+	19	2554	c.2508C>T	c.(2506-2508)ccC>ccT	p.P836P	NCAPD2_uc009zen.1_Silent_p.P708P|NCAPD2_uc010sfd.1_Silent_p.P791P	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	836					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GTCACCCCCCCTTCCGGCTGC	0.567000														73			34		0	0	1	0	0
WBP11	51729	broad.mit.edu	37	12	14942001	14942001	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:14942001G>A	uc001rci.3	-	10	1537	c.1376C>T	c.(1375-1377)cCt>cTt	p.P459L		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	459	Pro-rich.				RNA splicing|mRNA processing|rRNA processing	cytoplasm	WW domain binding|single-stranded DNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TGGTCCTGGAGGTAAAAGTCG	0.597000														25			7		0	0	1	0	0
CLDN3	1365	broad.mit.edu	37	7	73184326	73184326	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:73184326C>T	uc003tzg.4	-	0	275	c.54G>A	c.(52-54)ctG>ctA	p.L18L		NM_001306	NP_001297	O15551	CLD3_HUMAN	Homo sapiens claudin 3 (CLDN3), mRNA.	18					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				CGATGGTGCCCAGCCAGCCCA	0.692000														18			10		0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105412371	105412371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:105412371G>A	uc003dwc.3	-	12	2343	c.2021C>T	c.(2020-2022)cCt>cTt	p.P674L	CBLB_uc011bhi.2_Missense_Mutation_p.P696L|CBLB_uc003dwd.2_Missense_Mutation_p.P674L|CBLB_uc003dwe.2_Missense_Mutation_p.P674L	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	674	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AACTGGAGGAGGAGGAGAAAG	0.413000			Mis S		AML									32			20		0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221755	5221755	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5221755C>T	uc010qyz.2	-	0	176	c.176G>A	c.(175-177)tGg>tAg	p.W59*		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W59*(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTCAGTCCATATCACATG	0.532000														77			27		0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127767930	127767930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:127767930G>A	uc011ebs.2	-	4	1870	c.1534C>T	c.(1534-1536)Ccc>Tcc	p.P512S	KIAA0408_uc003qbc.3_Missense_Mutation_p.P512S|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_Intron|KIAA0408_uc003qbb.3_Missense_Mutation_p.P395S	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	512							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTCTTGGTGGGATTATCAGGC	0.473000														43			6		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422971	26422971	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26422971C>T	uc003abz.1	+	42	7281	c.7031C>T	c.(7030-7032)tCg>tTg	p.S2344L	MYO18B_uc003aca.1_Missense_Mutation_p.S2225L|MYO18B_uc010guy.1_Missense_Mutation_p.S2226L|MYO18B_uc010guz.1_Missense_Mutation_p.S2224L|MYO18B_uc011aka.1_Missense_Mutation_p.S1498L|MYO18B_uc011akb.1_Missense_Mutation_p.S1857L|MYO18B_uc010gva.1_Missense_Mutation_p.S327L|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2344				KS -> LT (in Ref. 5).		nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						CCCGAAAAGTCGAAAACCCAA	0.557000														91			22		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10576035	10576035	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:10576035G>A	uc002czw.3	+	10	2137	c.1978G>A	c.(1978-1980)Gat>Aat	p.D660N	ATF7IP2_uc010uyp.2_Missense_Mutation_p.D204N|ATF7IP2_uc002czu.3_Missense_Mutation_p.D660N|ATF7IP2_uc002czv.3_3'UTR|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	660	Fibronectin type-III.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						CCAATCAAAAGATATTTTTGG	0.328000														93			16		0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58285269	58285269	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:58285269C>T	uc002aex.3	-	5	831	c.558G>A	c.(556-558)tgG>tgA	p.W186*	ALDH1A2_uc010ugv.2_Nonsense_Mutation_p.W165*|ALDH1A2_uc002aey.3_Nonsense_Mutation_p.W186*|ALDH1A2_uc010ugw.2_Nonsense_Mutation_p.W157*|ALDH1A2_uc002aew.3_Nonsense_Mutation_p.W90*	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	186					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GGGGGAAGTTCCACTGAAAGG	0.418000														56			15		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20492183	20492183	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20492183G>A	uc010bwe.3	+	12	1688	c.1449G>A	c.(1447-1449)atG>atA	p.M483I	ACSM2A_uc010vax.1_Missense_Mutation_p.M404I|ACSM2A_uc002dhf.4_Missense_Mutation_p.M483I|ACSM2A_uc002dhg.4_Missense_Mutation_p.M483I|ACSM2A_uc010vay.2_Missense_Mutation_p.M404I|ACSM2A_uc002dhh.4_Missense_Mutation_p.M113I	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	483					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ATGCACTGATGGAGCACCCTG	0.567000														53			27		0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78353570	78353570	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:78353570C>T	uc001xui.3	+	4	659	c.560C>T	c.(559-561)tCg>tTg	p.S187L	ADCK1_uc010tvo.1_Intron|ADCK1_uc001xuj.3_Missense_Mutation_p.S119L|ADCK1_uc001xuk.1_Missense_Mutation_p.S61L	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	194	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GCTCAGAGCTCGAAGGACATT	0.617000														75			25		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39228062	39228062	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:39228062C>T	uc003cjk.2	-	1	3104	c.2875G>A	c.(2875-2877)Gag>Aag	p.E959K	XIRP1_uc003cji.3_Missense_Mutation_p.E959K|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.E959K	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	959							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)		TGGGCCCCCTCGCTGGCTGGC	0.657000														58			21		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16882980	16882980	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:16882980G>A	uc001ioo.3	-	60	9782	c.9730C>T	c.(9730-9732)Cct>Tct	p.P3244S		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3244	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGATAAAAGGAGCAGGTACT	0.388000														70			25		0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27493257	27493257	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:27493257G>A	uc002hdt.1	-	1	860	c.702C>T	c.(700-702)tcC>tcT	p.S234S	MYO18A_uc010csa.1_Silent_p.S234S|MYO18A_uc002hdu.1_Silent_p.S234S	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	234	PDZ.				DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGCGCCGCAGGGAGAAGCCAA	0.701000														44			30		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13399748	13399748	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:13399748G>A	uc003bxv.1	-	15	2385	c.2302C>T	c.(2302-2304)Ccg>Tcg	p.P768S	NUP210_uc003bxx.3_Missense_Mutation_p.P440S	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	768					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGCAGCAGCGGACAGGACATG	0.667000														88			20		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47041164	47041164	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:47041164C>T	uc003cqp.3	+	25	3927	c.3748C>T	c.(3748-3750)Ctc>Ttc	p.L1250F	NBEAL2_uc010hjm.2_Intron|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1250	Leu-rich.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACAGCTGTCCCTCCAGGCTGA	0.607000														39			10		0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105048321	105048321	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105048321G>T	uc001kws.3	+	2	1444	c.1395G>T	c.(1393-1395)caG>caT	p.Q465H		NM_032727	NP_116116	Q16352	AINX_HUMAN	Homo sapiens internexin neuronal intermediate filament protein, alpha (INA), mRNA.	465	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AAACCTCCCAGATAGGGGAAA	0.403000														76			6		0.0215528	0.0215558	1	1	0
PREX2	80243	broad.mit.edu	37	8	68968189	68968190	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:68968189_68968190CC>TT	uc003xxv.1	+	9	1245_1246	c.1218_1219CC>TT	c.(1216-1221)ttccct>ttTTct	p.P407S	PREX2_uc003xxu.1_Missense_Mutation_p.P407S|PREX2_uc011lez.1_Missense_Mutation_p.P342S	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	407	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.P407H(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGACTACGTTCCCTAAATGCTT	0.396000														86			29		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91779837	91779837	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:91779837G>A	uc010aty.3	-	14	2477	c.2323C>T	c.(2323-2325)Ctg>Ttg	p.L775L		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	775					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGCTCTCCAGGCTCTGCTGC	0.662000														21			12		0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40853713	40853713	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:40853713C>T	uc002law.3	-	1	1050	c.681G>A	c.(679-681)ggG>ggA	p.G227G	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Silent_p.G209G	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	227	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.G227W(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGTAGGGTATCCCATAGAATG	0.398000														105			33		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50195622	50195622	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50195622C>T	uc010eng.3	+	2	429	c.113C>T	c.(112-114)tCc>tTc	p.S38F	CPT1C_uc002ppl.4_Missense_Mutation_p.S38F|CPT1C_uc002ppi.3_5'UTR|CPT1C_uc002ppk.3_Missense_Mutation_p.S38F|CPT1C_uc010enh.3_Missense_Mutation_p.S38F|CPT1C_uc002ppj.3_Missense_Mutation_p.S38F|CPT1C_uc010ybc.1_5'UTR	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	38					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGCCTGCGCTCCTGGAAAAGG	0.617000														28			15		0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43279991	43279991	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:43279991C>T	uc001jaj.3	+	1	507	c.149C>T	c.(148-150)gCt>gTt	p.A50V		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	50					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTCAGTCTGCTGTGCGGATG	0.468000														123			33		0	0	1	0	0
CD276	80381	broad.mit.edu	37	15	73996519	73996519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:73996519C>T	uc002avv.1	+	5	1309	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	CD276_uc010bjd.1_Missense_Mutation_p.P213S|CD276_uc002avu.1_Missense_Mutation_p.P359S|CD276_uc002avw.1_Missense_Mutation_p.P141S|CD276_uc010ulb.1_Missense_Mutation_p.P305S	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	359					T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						ACCTCCAGCTCCCTACTCGAA	0.637000														22			6		0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39542544	39542544	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:39542544C>T	uc002lap.3	+	2	406	c.348C>T	c.(346-348)ccC>ccT	p.P116P	PIK3C3_uc010xcl.2_Silent_p.P53P|PIK3C3_uc002lao.3_Silent_p.P116P	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 3 (PIK3C3), mRNA.	116					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TGTATGGTCCCGGAAAAGCAG	0.483000										TSP Lung(28;0.18)				83			22		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50735323	50735323	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50735323C>T	uc010enu.1	+	9	1157	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	MYH14_uc002prq.1_Silent_p.I370I|MYH14_uc002prr.1_Silent_p.I362I	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	362	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ACGAGGAAATCATCTGTGAGT	0.627000														28			14		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55481539	55481539	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55481539G>A	uc021vbq.1	+	1	267	c.156G>A	c.(154-156)ggG>ggA	p.G52G	NLRP2_uc010yfp.2_Intron|NLRP2_uc002qij.3_Silent_p.G52G|NLRP2_uc010esp.3_Silent_p.G52G|NLRP2_uc010esn.3_Silent_p.G52G|NLRP2_uc010eso.3_Silent_p.G52G	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	52	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGGCTGATGGGAAGCAACTGG	0.527000														63			16		0	0	1	0	0
GRAMD4	23151	broad.mit.edu	37	22	47022730	47022730	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:47022730G>A	uc003bhx.3	+	0	83	c.34G>A	c.(34-36)Ggt>Agt	p.G12S		NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	12					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)		CAGGTTCAGAGGTCACAAGAG	0.562000														65			14		0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	171871371	171871371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:171871371C>T	uc002ugo.2	-	13	1859	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	TLK1_uc002ugn.2_Missense_Mutation_p.D442N|TLK1_uc002ugp.2_Missense_Mutation_p.D394N|TLK1_uc002ugq.2_Non-coding_Transcript|TLK1_uc010zdn.1_Missense_Mutation_p.D346N	NM_001136554	NP_036422	Q9UKI8	TLK1_HUMAN	Homo sapiens tousled-like kinase 1 (TLK1), transcript variant 2, mRNA.	442	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGTGAATTATCTTCATTGTTT	0.368000														89			29		0	0	1	0	0
C9orf135	138255	broad.mit.edu	37	9	72471531	72471531	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:72471531G>A	uc004ahl.3	+	2	387	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	C9orf135_uc011lrw.2_5'UTR|C9orf135_uc010moq.3_5'UTR|C9orf135_uc011lrx.2_Non-coding_Transcript|C9orf135_uc010mop.3_Missense_Mutation_p.E108K	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	Homo sapiens chromosome 9 open reading frame 135 (C9orf135), mRNA.	108						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						AGAATGGGTTGAAATGAAGAG	0.338000														58			24		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32272248	32272248	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:32272248C>T	uc011alu.2	+	36	4004	c.3802C>T	c.(3802-3804)Cga>Tga	p.R1268*	DEPDC5_uc011als.2_Nonsense_Mutation_p.R1168*|DEPDC5_uc003als.3_Nonsense_Mutation_p.R1237*|DEPDC5_uc011alv.2_Intron|DEPDC5_uc003alt.3_Nonsense_Mutation_p.R1259*|DEPDC5_uc003alv.3_Intron|DEPDC5_uc003alu.3_Nonsense_Mutation_p.R686*|DEPDC5_uc003alw.3_Nonsense_Mutation_p.R535*|DEPDC5_uc011alx.2_Nonsense_Mutation_p.R85*|DEPDC5_uc010gwk.3_Nonsense_Mutation_p.R263*|DEPDC5_uc011aly.2_Nonsense_Mutation_p.R85*	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1237					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGAGCCCGACCGAGGTTAGAG	0.532000														90			45		0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486458	125486458	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125486458C>T	uc004bmu.1	+	0	190	c.190C>T	c.(190-192)Ctc>Ttc	p.L64F		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GTACTTTTTTCTCAGCAACTT	0.453000														74			27		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124095744	124095744	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124095744T>G	uc010saf.2	+	0	347	c.347T>G	c.(346-348)tTc>tGc	p.F116C		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	116						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CAGCTTTACTTCTTCCTCATT	0.448000														158			31		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139884519	139884519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:139884519C>T	uc003lfs.2	+	15	3272	c.3118C>T	c.(3118-3120)Cct>Tct	p.P1040S	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.P1059S|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.P1040S|ANKHD1-EIF4EBP3_uc003lft.1_Missense_Mutation_p.P251S|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.P520S|ANKHD1-EIF4EBP3_uc003lfv.1_Missense_Mutation_p.P117S	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1040						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGATGCCTCCTGTGTATCC	0.413000														97			36		0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41277899	41277899	+	Missense_Mutation	SNP	C	T	T	rs73885709		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:41277899C>T	uc003azh.3	+	2	408	c.307C>T	c.(307-309)Cct>Tct	p.P103S	XPNPEP3_uc011aox.2_Missense_Mutation_p.P103S|XPNPEP3_uc003azi.3_Missense_Mutation_p.P24S|XPNPEP3_uc011aoy.1_Non-coding_Transcript|XPNPEP3_uc010gyh.1_Non-coding_Transcript	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	103					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GCTCTCCAACCCTACATACTA	0.463000														96			45		0	0	1	0	0
FAM109A	144717	broad.mit.edu	37	12	111801115	111801115	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:111801115G>A	uc001tsc.3	-	1	221	c.186C>T	c.(184-186)ttC>ttT	p.F62F	FAM109A_uc021rdy.1_Silent_p.F52F|FAM109A_uc001tsd.4_Silent_p.F39F|FAM109A_uc009zvu.3_Silent_p.F39F|FAM109A_uc021rdz.1_Silent_p.F39F	NM_144671	NP_653272	Q8N4B1	SESQ1_HUMAN	Homo sapiens family with sequence similarity 109, member A (FAM109A), transcript variant 2, mRNA.	39	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			breast(1)|endometrium(1)|lung(1)|ovary(1)	4						CGCGCAGCACGAACCAGCGCC	0.662000														34			7		0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608595	4608595	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4608595G>A	uc010qyh.2	+	0	575	c.553G>A	c.(553-555)Gcc>Acc	p.A185T		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCTATCATAGCCATAACTCC	0.493000														87			37		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28499611	28499611	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28499611C>T	uc003nll.2	+	2	300	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	GPX5_uc003nlm.2_Intron|GPX5_uc003nln.2_Intron	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	100					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	GTTGGGCTTTCCCTGCAACCA	0.468000														227			63		0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100131594	100131594	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:100131594C>T	uc003huo.2	-	3	422	c.328G>A	c.(328-330)Ggc>Agc	p.G110S	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_5'UTR|ADH6_uc003hup.4_Missense_Mutation_p.G110S|ADH6_uc010ile.3_Missense_Mutation_p.G110S	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	110					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CAAAAATTGCCCTCAGAATTC	0.303000														91			32		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129712754	129712754	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:129712754G>A	uc021zfb.1	+	35	5295	c.5190G>A	c.(5188-5190)agG>agA	p.R1730R	LAMA2_uc003qbn.3_Silent_p.R1730R|LAMA2_uc003qbo.3_Silent_p.R1730R	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1730	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AACTGAGGAGGAAAAATCTAG	0.353000														41			34		0	0	1	0	0
KDELC1	79070	broad.mit.edu	37	13	103443710	103443710	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:103443710G>A	uc001vpq.4	-	4	1127	c.743C>T	c.(742-744)tCa>tTa	p.S248L	KDELC1_uc001vpr.4_Missense_Mutation_p.S29L	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 1 (KDELC1), mRNA.	248						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATGGATGTTTGAATTGGATTT	0.428000														261			140		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101480449	101480449	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:101480449G>A	uc010svm.1	+	16	2120	c.1548G>A	c.(1546-1548)gtG>gtA	p.V516V	ANO4_uc001thw.2_Silent_p.V481V|ANO4_uc001thx.2_Silent_p.V516V|ANO4_uc001thy.2_Silent_p.V36V	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	516						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						TCTGCGTGGTGATTGCTGCCG	0.502000										HNSCC(74;0.22)				203			90		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73056942	73056942	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:73056942T>C	uc001sxa.3	+	18	3072	c.3042T>C	c.(3040-3042)ctT>ctC	p.L1014L		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	1014					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.E1013Q(1)		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						AAGACGAGCTTTTCCAATGGT	0.393000														31			16		0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213014	9213014	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9213014C>T	uc010xkk.2	-	0	969	c.969G>A	c.(967-969)agG>agA	p.R323R		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CTATGAACTTCCTCAAGGTTC	0.443000														60			19		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791924	95791924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95791924C>T	uc001kjk.3	+	1	1755	c.1121C>T	c.(1120-1122)cCt>cTt	p.P374L	PLCE1_uc010qnx.2_Missense_Mutation_p.P374L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	374					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCCTTACTGCCTTGTGGGAGA	0.483000														66			20		0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101718571	101718571	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:101718571G>A	uc021sxt.1	-	2	1907	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	CHSY1_uc010usd.2_Silent_p.F205F	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	477					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGATTTTGCTGAAAGTCTGCT	0.488000														33			40		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734558	92734558	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92734558G>A	uc003umf.3	-	2	1123	c.853C>T	c.(853-855)Cga>Tga	p.R285*	SAMD9_uc003umg.3_Nonsense_Mutation_p.R285*|SAMD9_uc022ahg.1_Nonsense_Mutation_p.R285*	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	285						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)			CTTGGCTCTCGAATGCACTTC	0.373000														92			36		0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25671151	25671151	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25671151G>A	uc001upy.3	+	0	876	c.815G>A	c.(814-816)cGg>cAg	p.R272Q		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	272					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.R272Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGTGGAACGGCAGACGGAA	0.398000														136			49		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77290690	77290690	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77290690G>A	uc003hkb.4	-	9	1389	c.1236C>T	c.(1234-1236)atC>atT	p.I412I		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	412										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GGTCAATGGTGATGCTGTTGC	0.557000														84			6		0	0	1	0	0
AK296148	0	broad.mit.edu	37	17	18333049	18333049	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:18333049G>A	uc010vxz.2	+	3		c.871G>A								Homo sapiens cDNA FLJ61294 complete cds, highly similar to Keratin, type I cytoskeletal 17.																		GTGGAGATGGGCGCTGCCCCA	0.582000														17			21		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165984197	165984197	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:165984197C>T	uc002ucx.3	-	17	3829	c.3337G>A	c.(3337-3339)Gaa>Aaa	p.E1113K	SCN3A_uc002ucy.3_Missense_Mutation_p.E1064K|SCN3A_uc002ucz.3_Missense_Mutation_p.E1064K|SCN3A_uc002uda.1_Missense_Mutation_p.E933K|SCN3A_uc002udb.1_Missense_Mutation_p.E933K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1113						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTTAAGTTTTCAAAGTCAGAC	0.358000														78			38		0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37353567	37353567	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:37353567G>A	uc002xjc.3	+	0	463	c.200G>A	c.(199-201)gGa>gAa	p.G67E		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	67					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AAAGCCGAGGGAGAGCCCTGC	0.677000														42			5		0	0	1	0	0
KIAA0146	23514	broad.mit.edu	37	8	48309146	48309146	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:48309146C>T	uc003xqd.3	+	5	798	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	KIAA0146_uc011lcz.2_Intron|KIAA0146_uc011lda.2_Intron|KIAA0146_uc011ldb.2_Missense_Mutation_p.P246S|KIAA0146_uc010lxs.3_5'UTR|KIAA0146_uc011ldc.2_Missense_Mutation_p.P176S|KIAA0146_uc011ldd.2_Missense_Mutation_p.P186S|KIAA0146_uc003xqe.3_Intron|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	246										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				AGCTAAGTTTCCCAGGACTCC	0.353000														181			80		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34810239	34810239	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34810239C>T	uc010gfq.3	+	10	3217	c.2854C>T	c.(2854-2856)Cct>Tct	p.P952S	EPB41L1_uc002xeu.3_Missense_Mutation_p.P752S|EPB41L1_uc002xev.3_Missense_Mutation_p.P853S|EPB41L1_uc002xew.3_Missense_Mutation_p.P745S|EPB41L1_uc002xex.3_Missense_Mutation_p.P674S|EPB41L1_uc002xey.3_Missense_Mutation_p.P604S|EPB41L1_uc002xez.3_Missense_Mutation_p.P752S|EPB41L1_uc002xfb.3_Missense_Mutation_p.P854S	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	854					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ACTGCAGCATCCTGATATGCT	0.522000														178			15		0	0	1	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20474889	20474889	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:20474889C>T	uc009vpp.1	+	4	729	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA.	168					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	p.P210P(1)|p.P211P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCCCGCCCCTCCCTAGAGCCT	0.657000														48			9		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33293903	33293903	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:33293903C>T	uc001wrq.3	+	12	7054	c.6884C>T	c.(6883-6885)cCc>cTc	p.P2295L		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	2295					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GCATTGCATCCCAGCCCCAAA	0.433000														86			31		0	0	1	0	0
SEPT5	5413	broad.mit.edu	37	22	19709226	19709226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:19709226C>T	uc002zpv.2	+	8	906	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	SEPT5_uc002zpw.1_Missense_Mutation_p.R270W|SEPT5_uc002zpx.1_Non-coding_Transcript|GP1BB_uc002zpz.2_5'UTR	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	Homo sapiens septin 5 (SEPT5), transcript variant 1, mRNA.	261					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GCAGCGGGTCCGGGGCCGACT	0.677000														65			42		0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137665307	137665307	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:137665307G>A	uc003lcs.1	-	2	658	c.458C>T	c.(457-459)tCg>tTg	p.S153L	CDC25C_uc003lcp.1_Missense_Mutation_p.S75L|CDC25C_uc003lcq.1_Intron|CDC25C_uc003lcr.1_Missense_Mutation_p.S75L|CDC25C_uc011cyp.1_Missense_Mutation_p.S92L|CDC25C_uc010jet.1_Missense_Mutation_p.S75L|CDC25C_uc003lct.1_Missense_Mutation_p.S75L|CDC25C_uc003lcu.1_Intron	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	75					DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCTAAGATTCGAAAGATCGAG	0.423000														124			51		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921362	24921362	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24921362C>T	uc001ywo.3	+	0	822	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	116					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)		CCGTAAGGATCCCTCCTCCCA	0.657000														57			28		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36122870	36122870	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:36122870C>T	uc003gsq.2	-	22	4163	c.3825G>A	c.(3823-3825)acG>acA	p.T1275T		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1275	Rho-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						TTTGTCCCTTCGTTTGAAACA	0.338000														87			7		0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4791003	4791003	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:4791003C>T	uc010vsl.2	+	11	1392	c.1148C>T	c.(1147-1149)cCc>cTc	p.P383L	MINK1_uc010vsk.2_Missense_Mutation_p.P383L|MINK1_uc010vsm.2_Missense_Mutation_p.P383L|MINK1_uc010vsn.2_Missense_Mutation_p.P383L|MINK1_uc010vso.2_Missense_Mutation_p.P328L|MINK1_uc010vsp.2_5'UTR	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	383					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						cagcGAGACCCCGAGGCACAC	0.617000														2			4		0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14601461	14601461	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:14601461G>A	uc003jfj.3	+	4	370	c.257_splice	c.e4-1	p.R86_splice		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA.	86										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TTGGTCCAGGGAACCTCAGTG	0.398000														77			27		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	30054406	30054406	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:30054406G>A	uc001usl.4	+	7	3392	c.3334G>A	c.(3334-3336)Gag>Aag	p.E1112K	MTUS2_uc001usm.4_Missense_Mutation_p.E81K|MTUS2_uc010aau.3_5'UTR|BC027486_uc001usn.3_Intron	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	1102	Localization to the growing distal tip of microtubules.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGAGCTGGAGGAGCGGCTGCA	0.632000														3			3		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198126	20198126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:20198126C>T	uc003sus.4	-	4	2167	c.1858G>A	c.(1858-1860)Gag>Aag	p.E620K	MACC1_uc010kug.3_Missense_Mutation_p.E620K	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	620					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ATTACTTGCTCCTTTGAAATC	0.358000														163			54		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140308563	140308563	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140308563C>T	uc003lih.2	+	0	2262	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.L696L	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	720					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)			CTTTTTATTTCTGGGGTGCTT	0.478000														146			49		0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387882	46387882	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46387882G>A	uc002pds.1	-	0	1495	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 1 (IRF2BP1), mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGGCTCGGGGGATGCCTTGCG	0.746000														29			5		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646362	57646362	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57646362C>T	uc002qnz.1	-	4	1729	c.1343G>A	c.(1342-1344)gGa>gAa	p.G448E		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCAGAACATCCATAAGGTTT	0.408000														165			51		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545019	82545019	+	Silent	SNP	G	A	A	rs76835434	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82545019G>A	uc003uhx.2	-	6	12572	c.12283C>T	c.(12283-12285)Cta>Tta	p.L4095L	PCLO_uc003uhv.2_Silent_p.L4095L|PCLO_uc010lec.3_Silent_p.L1060L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4026					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						AAAGGTGCTAGGAAATCTGTC	0.448000														20			7		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31816148	31816148	+	Missense_Mutation	SNP	G	A	A	rs143438972	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:31816148G>A	uc001ivs.4	+	8	3394	c.3331G>A	c.(3331-3333)Gag>Aag	p.E1111K	ZEB1_uc001ivr.4_Missense_Mutation_p.E893K|ZEB1_uc010qef.2_Missense_Mutation_p.E893K|ZEB1_uc001ivu.4_Missense_Mutation_p.E1112K|ZEB1_uc010qeh.2_Missense_Mutation_p.E1044K|ZEB1_uc001ivv.4_Missense_Mutation_p.E1091K|ZEB1_uc001ivt.4_Missense_Mutation_p.E893K|ZEB1_uc009xlo.2_Missense_Mutation_p.E1094K|ZEB1_uc009xlp.3_Missense_Mutation_p.E1095K	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	1111	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAAGTAGGCGAGAGTAGTGA	0.378000														19			10		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62029974	62029974	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:62029974G>A	uc001jky.3	-	4	766	c.428C>T	c.(427-429)cCa>cTa	p.P143L	ANK3_uc010qih.2_Missense_Mutation_p.P126L|ANK3_uc001jkz.4_Missense_Mutation_p.P137L|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	143					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						CATATACAATGGCGTGAAACC	0.403000														36			12		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141457966	141457967	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141457966_141457967GA>AT	uc002tvj.1	-	40	7623_7624	c.6651_6652TC>AT	c.(6649-6654)aatcca>aaATca	p.2217_2218NP>KS		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2217					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAATAACGTGGATTCTCATATG	0.337000										TSP Lung(27;0.18)				131			20		0	0	1	0	0
ASB14	142686	broad.mit.edu	37	3	57312513	57312513	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:57312513C>T	uc021wzs.1	-	6	1394	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L	ASB14_uc003dip.1_Silent_p.L156L|ASB14_uc003diq.3_Silent_p.L277L	NM_001142733	NP_001136205	A6NK59	ASB14_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 14 (ASB14), transcript variant 1, mRNA.	441					intracellular signal transduction					central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		ACCCATAGTTCAGCAGCATCC	0.438000														118			38		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249931	140249931	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140249931G>A	uc003lia.2	+	0	2101	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	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_uc011dae.2_Missense_Mutation_p.E415K	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), 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)			CCTGGACCGCGAGAACGTGTG	0.627000														180			67		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21899156	21899156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21899156G>A	uc001war.2	-	0	712	c.647C>T	c.(646-648)tCc>tTc	p.S216F	CHD8_uc001was.2_Intron|Metazoa_SRP_uc021row.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	216					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGAGACAATGGAAACACCTGG	0.567000														32			7		0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169533134	169533134	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:169533134C>T	uc003mai.4	+	0	218	c.173C>T	c.(172-174)aCc>aTc	p.T58I	FOXI1_uc003maj.4_Missense_Mutation_p.T58I	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	58	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA 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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TATGGGGCCACCCCCAACCCC	0.682000									Pendred syndrome					19			9		0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701978	143701978	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143701978G>A	uc003wdt.1	+	0	889	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K296fs*1(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					AGAGGTCAAGGAAGCTCTGAA	0.433000														59			6		0	0	1	0	0
SLC1A1	6505	broad.mit.edu	37	9	4544603	4544603	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:4544603A>G	uc003zij.2	+	1	381	c.128A>G	c.(127-129)aAc>aGc	p.N43S		NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	43					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	GAACACAGCAACCTCTCAACT	0.388000														118			23		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78784639	78784639	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:78784639G>A	uc004akc.2	+	12	2177	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	PCSK5_uc004ajy.2_Missense_Mutation_p.E547K|PCSK5_uc004ajz.3_Missense_Mutation_p.E547K|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	547	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCACTCCATGGAAGGATTCAA	0.413000														100			27		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150723772	150723772	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:150723772C>T	uc003lty.3	-	1	351	c.221G>A	c.(220-222)gGa>gAa	p.G74E	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.G74E|SLC36A2_uc011dct.1_Missense_Mutation_p.G74E	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	74					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGGGGTAGTCCCAGGATCCC	0.552000														58			6		0	0	1	0	0
ACADSB	36	broad.mit.edu	37	10	124802595	124802595	+	Missense_Mutation	SNP	C	T	T	rs138063747		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124802595C>T	uc001lhb.3	+	5	832	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C	ACADSB_uc010qub.2_Missense_Mutation_p.R137C	NM_001609	NP_001600	P45954	ACDSB_HUMAN	Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	239					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CTTAGTAGATCGTGATACTCC	0.398000														110			45		0	0	1	0	0
IFI27L2	83982	broad.mit.edu	37	14	94594942	94594942	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94594942G>A	uc001ycq.3	-	2	164	c.108C>T	c.(106-108)tcC>tcT	p.S36S		NM_032036	NP_114425	Q9H2X8	I27L2_HUMAN	Homo sapiens interferon, alpha-inducible protein 27-like 2 (IFI27L2), mRNA.	36						integral to membrane		p.S36S(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	8						CTGCTATGGAGGACGCGGCGA	0.637000														51			4		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130286178	130286178	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:130286178G>A	uc001qgg.4	-	3	1502	c.1144C>T	c.(1144-1146)Ctc>Ttc	p.L382F		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	382	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGCCCGAAGAGCCGTGTGCAG	0.672000														6			3		0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207103749	207103749	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207103749C>T	uc001hez.3	-	10	2393	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K	PIGR_uc009xbz.3_Missense_Mutation_p.E737K	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	737						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCGGCTTCCTCCTTGGATGAC	0.627000														34			8		0	0	1	0	0
MFSD12	126321	broad.mit.edu	37	19	3557246	3557246	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3557246G>A	uc002lxw.3	-	0	326	c.156C>T	c.(154-156)gcC>gcT	p.A52A	MFSD12_uc002lxx.3_Silent_p.A52A|MFSD12_uc002lxy.3_Silent_p.A52A|MFSD12_uc002lxz.3_Silent_p.A52A	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	52					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GGGAGCTGTAGGCGCGCACCG	0.711000														14			8		0	0	1	0	0
GTPBP10	85865	broad.mit.edu	37	7	90007497	90007497	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:90007497C>T	uc003ukm.2	+	7	826	c.749C>T	c.(748-750)gCt>gTt	p.A250V	GTPBP10_uc003ukn.2_Missense_Mutation_p.A171V|GTPBP10_uc003uko.2_Missense_Mutation_p.A60V	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	Homo sapiens GTP-binding protein 10 (putative) (GTPBP10), transcript variant 2, mRNA.	250					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						TACAGGACAGCTTTTGAAACC	0.323000														34			19		0	0	1	0	0
ATG4A	115201	broad.mit.edu	37	X	107393513	107393513	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:107393513C>T	uc004enr.3	+	9	1104	c.946C>T	c.(946-948)Cct>Tct	p.P316S	ATG4A_uc004ens.3_Missense_Mutation_p.P232S|ATG4A_uc011msl.2_Missense_Mutation_p.P170S|ATG4A_uc010npi.3_Non-coding_Transcript|ATG4A_uc004ent.3_Missense_Mutation_p.P254S|COL4A6_uc011msm.1_Intron	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog A (S. cerevisiae) (ATG4A), transcript variant 1, mRNA.	316					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						AAACCTGGATCCTTCAGTTGC	0.488000														104			22		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75107041	75107041	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75107041C>T	uc001dgg.3	-	4	637	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	140										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						GAATGTCCTTCATCAACCAGA	0.423000														104			22		0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32751281	32751281	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32751281C>T	uc001bux.3	+	12	1632	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	LCK_uc001buy.3_Silent_p.F498F|LCK_uc001buz.3_Silent_p.F528F|LCK_uc001bva.3_Silent_p.F505F	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	498	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	AGGACTTCTTCACGGCCACAG	0.612000			T	TRB@	T-ALL									20			9		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110819735	110819735	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:110819735G>A	uc003kpf.3	+	10	1228	c.993G>A	c.(991-993)aaG>aaA	p.K331K	CAMK4_uc010jbv.3_Silent_p.K134K|CAMK4_uc003kpg.3_Silent_p.K22K	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	331	Calmodulin-binding (Potential).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CAGCGGTGAAGGCTGTGGTGG	0.557000														35			15		0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147685156	147685156	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:147685156C>T	uc003qlz.3	+	24	3110	c.2935C>T	c.(2935-2937)Ctg>Ttg	p.L979L	STXBP5_uc010khz.2_Silent_p.L943L|STXBP5_uc003qly.3_Silent_p.L634L	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	979					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TTTAAGACCTCTGTTGGATGT	0.358000														107			74		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22163861	22163861	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:22163861C>T	uc010vbq.2	+	30	3407	c.3311C>T	c.(3310-3312)gCt>gTt	p.A1104V	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc002dkg.4_Missense_Mutation_p.A182V|VWA3A_uc010bxe.1_Missense_Mutation_p.A206V	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	1104	VWFA 2.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGAAAGCTGGCTTCCTTCACC	0.567000														14			7		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53678703	53678703	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53678703G>A	uc010eqm.1	-	2	237	c.137C>T	c.(136-138)tCc>tTc	p.S46F		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CTCACCCAGGGAGACCAGGTT	0.483000														145			56		0	0	1	0	0
NPIP	9284	broad.mit.edu	37	16	15026547	15026547	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:15026547C>T	uc002dcx.4	+	6		c.1195C>T						Q9UND3	NPIP_HUMAN	Homo sapiens nuclear pore complex interacting protein (NPIP), mRNA.						mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore											GATCGCCACCCCGCACAGCCT	0.632000														110			14		0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40815211	40815211	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:40815211G>A	uc003ayv.1	-	8	1438	c.1231C>T	c.(1231-1233)Cca>Tca	p.P411S	MKL1_uc010gyf.1_Missense_Mutation_p.P361S|MKL1_uc003ayw.1_Missense_Mutation_p.P411S|MKL1_uc010gye.1_Missense_Mutation_p.P411S	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	411					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CGGGCCGCTGGGAAGGCTACC	0.677000			T	RBM15	acute megakaryocytic leukemia									9			3		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51053096	51053097	+	Missense_Mutation	DNP	GG	AA	AA	rs78088324		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:51053096_51053097GG>AA	uc002lfe.2	+	27	4837_4838	c.4221_4222GG>AA	c.(4219-4224)gaggag>gaAAag	p.E1408K	DCC_uc010dpf.2_Missense_Mutation_p.E1041K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1408					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAGTGTCTGAGGAGAGCCACAA	0.480000														89			8		0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106066502	106066502	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106066502T>C	uc001yrw.1	-	4	1242	c.1230A>G	c.(1228-1230)gaA>gaG	p.E410E	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Silent_p.E357E|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_Non-coding_Transcript					RecName: Full=Ig epsilon chain C region;																		TCTGCTCCCATTCGGCCCTGG	0.627000														121			7		0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110439146	110439146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:110439146G>A	uc010npv.1	+	12	1322	c.1295G>A	c.(1294-1296)gGg>gAg	p.G432E	PAK3_uc010npt.1_Missense_Mutation_p.G396E|PAK3_uc010npu.1_Missense_Mutation_p.G396E|PAK3_uc004eoy.1_Missense_Mutation_p.G151E|PAK3_uc004eoz.2_Missense_Mutation_p.G396E|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.G417E|PAK3_uc004epa.2_Missense_Mutation_p.G411E	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	411	Protein kinase.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ATTCTTCTCGGGATGGATGGC	0.358000										TSP Lung(19;0.15)				49			70		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106917009	106917009	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106917009G>A	uc001kyi.1	+	9	1823	c.1596G>A	c.(1594-1596)gtG>gtA	p.V532V		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	532						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTCCGGATGTGGACCTGAGAG	0.562000														57			5		0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79128395	79128395	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:79128395G>A	uc001dip.4	+	7	1244	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K		NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	Homo sapiens interferon-induced protein 44 (IFI44), mRNA.	374					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						GCAGCTAGAGGAAGTCCAAAG	0.343000														87			10		0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21720271	21720271	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:21720271G>A	uc002nqd.1	+	3	1553	c.1416G>A	c.(1414-1416)agG>agA	p.R472R	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CTAGCCATAGGAGAATTCATA	0.383000														89			23		0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16411782	16411782	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:16411782C>T	uc003cay.3	-	5	1113	c.831G>A	c.(829-831)atG>atA	p.M277I	RFTN1_uc010hes.3_Missense_Mutation_p.M241I	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	277						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TGAAGATCTCCATTTCTGTTG	0.458000														193			79		0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12211262	12211262	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:12211262G>A	uc003bwm.3	+	12	1316	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	SYN2_uc003bwl.1_Missense_Mutation_p.M384I|SYN2_uc003bwn.3_Missense_Mutation_p.M62I	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	388					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						ACCAGGTCATGGACTGTAGCA	0.512000														38			14		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38830220	38830220	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38830220G>A	uc021yzh.1	+	43	6405	c.6296G>A	c.(6295-6297)gGa>gAa	p.G2099E	DNAH8_uc003ooe.2_Missense_Mutation_p.G1882E	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAGGCCTAGGAAGGATTTTC	0.348000														91			40		0	0	1	0	0
STOML1	9399	broad.mit.edu	37	15	74281509	74281509	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74281509G>A	uc002awe.3	-	2	401	c.330C>T	c.(328-330)ttC>ttT	p.F110F	STOML1_uc002awf.3_Silent_p.F110F|STOML1_uc010bje.3_Silent_p.F110F|STOML1_uc010uld.2_Silent_p.F68F|STOML1_uc002awh.3_Intron|STOML1_uc002awg.3_Intron	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	Homo sapiens stomatin (EPB72)-like 1 (STOML1), mRNA.	110						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						AGGAGTCAATGAAGGGCAAGA	0.597000														57			25		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457608	45457608	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:45457608C>T	uc001rol.3	-	0		c.1587G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		GTCACTGGTTCTGGATTGGGC	0.502000														59			18		0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119025518	119025518	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:119025518C>T	uc001pvs.3	+	5	915	c.579C>T	c.(577-579)tgC>tgT	p.C193C	ABCG4_uc009zar.3_Silent_p.C193C	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	193	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	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)		TGATGTCGTGCTCCCACACGA	0.642000														140			45		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70501234	70501234	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:70501234G>A	uc003xyg.2	+	6	1153	c.592G>A	c.(592-594)Gag>Aag	p.E198K	SULF1_uc010lza.1_Missense_Mutation_p.E198K|SULF1_uc003xyd.2_Missense_Mutation_p.E198K|SULF1_uc003xye.2_Missense_Mutation_p.E198K|SULF1_uc003xyf.2_Missense_Mutation_p.E198K	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	198					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	p.E198K(2)		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)			AATCACTAACGAGAGCATTAA	0.428000														73			18		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47593172	47593172	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47593172G>A	uc003gxk.1	+	22	4219	c.4055G>A	c.(4054-4056)gGg>gAg	p.G1352E	ATP10D_uc003gxl.1_Missense_Mutation_p.G600E	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1352					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AAGTGGAGAGGGGCTGGAAAG	0.473000														91			24		0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16475435	16475435	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:16475435G>A	uc003cay.3	-	2	537	c.255C>T	c.(253-255)ttC>ttT	p.F85F	RFTN1_uc010hes.3_Silent_p.F49F	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	85						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TGGGCTGCACGAAGGGGTGCA	0.642000														164			36		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121381702	121381702	+	Silent	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:121381702A>C	uc003yox.3	+	46	5554	c.5289A>C	c.(5287-5289)tcA>tcC	p.S1763S	COL14A1_uc003yoz.3_Silent_p.S728S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1763	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCCCTCATCATGTTCTGCCT	0.532000														80			23		0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4705767	4705767	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4705767G>A	uc009zeh.1	+	7	819	c.777G>A	c.(775-777)caG>caA	p.Q259Q	DYRK4_uc001qmx.3_Silent_p.Q144Q|DYRK4_uc001qmy.2_Silent_p.Q144Q|DYRK4_uc021qtq.1_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	144	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTCACCAGCAGGCCCTGATGG	0.522000														24			17		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150948210	150948210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:150948210G>A	uc003lue.4	-	0	296	c.283C>T	c.(283-285)Cta>Tta	p.L95L	FAT2_uc010jhx.1_Silent_p.L95L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	95	Cadherin 1.				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)			CTTATTCTTAGGAAGCAGAAG	0.512000														322			41		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027662	37027662	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:37027662G>A	uc004ddl.2	+	0	1231	c.1179G>A	c.(1177-1179)gaG>gaA	p.E393E		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	393								p.P392A(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCGCCCAGAGACCCCCAAGA	0.607000														34			41		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155222375	155222375	+	Missense_Mutation	SNP	C	T	T	rs149590749	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:155222375C>T	uc021xge.1	-	11	1914	c.1637G>A	c.(1636-1638)cGa>cAa	p.R546Q	PLCH1_uc021xgd.1_Missense_Mutation_p.R546Q|PLCH1_uc021xgf.1_Missense_Mutation_p.R528Q	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	546					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATGAGGGATCGTCCATGTGA	0.313000														68			23		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757193	56757193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56757193G>A	uc010rjp.2	+	0	805	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E269K(2)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TAATTCCCAGGAAAATATGAA	0.353000														59			30		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958002	121958002	+	Missense_Mutation	SNP	G	A	A	rs143734180	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:121958002G>A	uc003idq.1	-	3	1651	c.1124C>T	c.(1123-1125)aCc>aTc	p.T375I		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	375										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AATAAAGAAGGTGACTTTTTG	0.418000														119			44		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81738458	81738458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81738458C>T	uc001szo.2	-	18	2408	c.2247G>A	c.(2245-2247)agG>agA	p.R749R	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Silent_p.R675R|PPFIA2_uc021rbh.1_Silent_p.R650R|PPFIA2_uc021rbi.1_Silent_p.R749R|PPFIA2_uc021rbj.1_Silent_p.R749R|PPFIA2_uc021rbk.1_Silent_p.R731R|PPFIA2_uc021rbl.1_Silent_p.R749R|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Silent_p.R316R|PPFIA2_uc021rbf.1_5'UTR	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	675										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCGATGTTTCCTCAGATCAC	0.284000														5			5		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684591	100684591	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100684591G>A	uc003uxp.1	+	2	9947	c.9894G>A	c.(9892-9894)acG>acA	p.T3298T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3298	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTTCTGAAACGAGCACCCTTT	0.507000														514			252		0	0	1	0	0
PTF1A	256297	broad.mit.edu	37	10	23482809	23482809	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:23482809G>A	uc001irp.3	+	1	961	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	Homo sapiens pancreas specific transcription factor, 1a (PTF1A), mRNA.	321					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CATAGAAAACGAACCACCATT	0.398000														132			38		0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88926235	88926235	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:88926235G>A	uc001tav.3	-	2	370	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	KITLG_uc001taw.3_Missense_Mutation_p.P59S|KITLG_uc009zso.1_Non-coding_Transcript	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	59					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	p.P59P(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TCCATCCCGGGGACATATTTG	0.328000									Testicular Cancer, Familial Clustering of					116			39		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26176114	26176114	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26176114G>A	uc003abz.1	+	8	2410	c.2160G>A	c.(2158-2160)gtG>gtA	p.V720V	MYO18B_uc003aca.1_Silent_p.V601V|MYO18B_uc010guy.1_Silent_p.V601V|MYO18B_uc010guz.1_Silent_p.V601V|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Silent_p.V233V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	720	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						TCTCCATGGTGATGTCGCTGG	0.642000														17			6		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6091063	6091063	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:6091063G>A	uc002wmr.3	-	4	1417	c.628C>T	c.(628-630)Cct>Tct	p.P210S	FERMT1_uc010gbt.3_Intron|FERMT1_uc002wms.3_Missense_Mutation_p.P210S|FERMT1_uc002wmt.3_5'Flank	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	210	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TCCGTCAAAGGGCTGTCACTG	0.498000														81			43		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179604914	179604914	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179604914C>T	uc010pnp.2	+	8	1930	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	TDRD5_uc021pfm.1_Missense_Mutation_p.S471F|TDRD5_uc001gnf.2_Missense_Mutation_p.S471F|TDRD5_uc021pfn.1_Missense_Mutation_p.S471F|TDRD5_uc001gnh.2_Missense_Mutation_p.S26F	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	471					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GACACCAGTTCCCTCATAGGG	0.453000														70			21		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10223741	10223741	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10223741C>T	uc002gmk.1	-	24	3274	c.3184G>A	c.(3184-3186)Gat>Aat	p.D1062N	MYH13_uc010vve.1_Intron	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1062					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATTTTCAGATCTCCTTCCAGC	0.423000														7			7		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107710318	107710318	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107710318G>A	uc010ljo.1	-	17	2221	c.2137C>T	c.(2137-2139)Ccc>Tcc	p.P713S	LAMB4_uc003vey.2_Missense_Mutation_p.P713S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	713	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTGATTTGGGGAATAAGGCCA	0.358000														69			28		0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182763211	182763211	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:182763211C>T	uc003fle.3	-	9	1210	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	MCCC1_uc010hxi.3_Non-coding_Transcript|MCCC1_uc011bqo.2_Non-coding_Transcript|MCCC1_uc003flf.3_Nonsense_Mutation_p.W241*|MCCC1_uc003flg.3_Nonsense_Mutation_p.W249*|MCCC1_uc011bqp.1_Nonsense_Mutation_p.W311*|MCCC1_uc011bqq.1_Nonsense_Mutation_p.W249*	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	358	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TCTAAGCTGCCACTCCACCAA	0.458000														82			27		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65489842	65489842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65489842G>A	uc002aon.2	-	8	2963	c.2782C>T	c.(2782-2784)Ccc>Tcc	p.P928S		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	928					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.P928T(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCGTTGAAGGGGACTGTGTTG	0.522000														154			25		0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23965900	23965900	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:23965900C>T	uc002wts.3	-	5	764	c.631G>A	c.(631-633)Gca>Aca	p.A211T	GGTLC1_uc002wtu.3_Missense_Mutation_p.A211T	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	211							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GAGGCAGCTGCCCAGCCACCA	0.592000														76			27		0	0	1	0	0
OCM2	4951	broad.mit.edu	37	7	97617821	97617821	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:97617821G>A	uc003upc.3	-	1	101	c.101C>T	c.(100-102)tCa>tTa	p.S34L		NM_006188	NP_006179	P0CE71	OCM2_HUMAN	Homo sapiens oncomodulin 2 (OCM2), mRNA.	34							calcium ion binding			lung(4)	4						GGAGAGGCCTGACGTCTGGAA	0.463000														205			90		0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109797285	109797285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:109797285G>A	uc003ymy.1	-	1	148	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Missense_Mutation_p.L15F	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	15					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GCATCACAGAGGTCTGCCTGG	0.547000														53			14		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41062004	41062005	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41062004_41062005GG>AA	uc002ony.3	+	24	5185_5186	c.5099_5100GG>AA	c.(5098-5100)cgg>cAA	p.R1700Q	SPTBN4_uc002onx.3_Missense_Mutation_p.R1700Q|SPTBN4_uc002onz.3_Missense_Mutation_p.R1700Q|SPTBN4_uc010egx.3_Missense_Mutation_p.R443Q|SPTBN4_uc002ooa.3_Missense_Mutation_p.R376Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1700					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGATCAGCCGGCGGCAGTCTC	0.663000														23			4		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451427	55451427	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55451427C>T	uc002qih.4	-	3	836	c.760G>A	c.(760-762)Ggc>Agc	p.G254S	NLRP7_uc010esk.3_Missense_Mutation_p.G254S|NLRP7_uc002qig.4_Missense_Mutation_p.G254S|NLRP7_uc002qii.4_Missense_Mutation_p.G254S|NLRP7_uc010esl.3_Missense_Mutation_p.G282S	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	254	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCATCAAGGCCATCGACCACG	0.562000														106			43		0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23299893	23299893	+	RNA	SNP	G	A	A	rs35384974		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:23299893G>A	uc002nrb.1	+	0		c.117G>A								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TCTGCACGTAGAAGCCCAGCC	0.612000														53			26		0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40027429	40027429	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:40027429G>A	uc001cdl.2	-	14	2822	c.1924C>T	c.(1924-1926)Cat>Tat	p.H642Y	PPIEL_uc001cdk.3_5'Flank|PABPC4_uc010oiv.1_Missense_Mutation_p.H626Y|PABPC4_uc001cdm.2_Missense_Mutation_p.H613Y	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	626					RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTGGCATGATGAGCCTGTAGA	0.502000														59			19		0	0	1	0	0
E2F1	1869	broad.mit.edu	37	20	32264549	32264549	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:32264549G>A	uc002wzu.4	-	6	1443	c.1303C>T	c.(1303-1305)Ctg>Ttg	p.L435L	NECAB3_uc002wzm.4_5'Flank|NECAB3_uc002wzn.4_5'Flank|NECAB3_uc002wzo.4_5'Flank	NM_005225	NP_005216	Q01094	E2F1_HUMAN	Homo sapiens E2F transcription factor 1 (E2F1), mRNA.	435	Transactivation.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|apoptosis|cell proliferation|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	Rb-E2F complex|mitochondrion	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						CAGAAATCCAGGGGGGTGAGG	0.642000														14			3		0	0	1	0	0
DGAT2	84649	broad.mit.edu	37	11	75508211	75508211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:75508211C>T	uc001oxa.3	+	5	902	c.643C>T	c.(643-645)Cct>Tct	p.P215S	DGAT2_uc001oxb.3_Missense_Mutation_p.P172S	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA.	215					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					AGGTATCTGCCCTGTCAGCCG	0.542000														101			47		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15299893	15299893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15299893C>T	uc002nan.3	-	7	1361	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	NOTCH3_uc002nao.1_Missense_Mutation_p.E429K	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	429	EGF-like 10; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACATCGGTCTCACAGCGAGGT	0.642000														59			25		0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207307839	207307839	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207307839G>A	uc001hfo.3	+	8	1369	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	392	Sushi 6.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TATTTCTATGGAGATGAGATT	0.423000														133			43		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2659715	2659715	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2659715G>A	uc009zdy.1	+	3	374	c.362G>A	c.(361-363)gGa>gAa	p.G121E	CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Intron|CACNA1C_uc001qkj.2_Intron|CACNA1C_uc001qkk.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Intron|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc009zdu.1_Intron|CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc001qkv.1_Intron			Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 14, mRNA.	494					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCCAGTAAGGGAAGCAGAAGT	0.532000														22			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9000453	9000453	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9000453G>A	uc002mkp.3	-	53	40735	c.40531C>T	c.(40531-40533)Ctt>Ttt	p.L13511F	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.L328F|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13513	SEA 10.				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						AGACCCTGAAGGACTCTCTCC	0.488000														75			21		0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168621	142168621	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142168621T>A	uc011kry.1	-	1	268	c.102A>T	c.(100-102)agA>agT	p.R34S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|TRBV5-4_uc022anj.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		CTTGCTGTCCTCTCGTTTTGA	0.547000														84			20		0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100847882	100847882	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:100847882C>T	uc010avx.3	+	1	714	c.621C>T	c.(619-621)gcC>gcT	p.A207A	WDR25_uc001yhn.3_Silent_p.A207A|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_5'Flank|WDR25_uc021sbq.1_Silent_p.A199A	NM_001161476	NP_078791	Q64LD2	WDR25_HUMAN	Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA.	207										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CAGGGCGTGCCCCAGCCCCTC	0.547000														100			40		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046780	73046780	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73046780C>T	uc004ebn.2	+	0		c.34741C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CCAACTCAGGCCTTCGGTCCA	0.493000														23			27		0	0	1	0	0
IFNA21	3452	broad.mit.edu	37	9	21166595	21166595	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21166595G>A	uc003zom.2	-	0	65	c.17C>T	c.(16-18)tCt>tTt	p.S6F		NM_002175	NP_002166	P01568	IFN21_HUMAN	Homo sapiens interferon, alpha 21 (IFNA21), mRNA.	6					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CATCAGTAAAGAAAAGGACAG	0.498000														65			25		0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60506800	60506800	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:60506800G>A	uc001czs.2	-	3	454	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	116							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCTTGACTGGGAATCTTAACA	0.458000														23			14		0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664531	5664531	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5664531G>A	uc001mbh.3	+	7	1216	c.1059G>A	c.(1057-1059)gtG>gtA	p.V353V	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Silent_p.V707V|TRIM6-TRIM34_uc001mbi.3_Silent_p.V353V|TRIM6-TRIM34_uc009yer.3_Intron	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	707						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		ACTGGGAAGTGGACGTGTCCA	0.418000														51			18		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132201188	132201188	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:132201188C>T	uc002tst.2	-	0	1280	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		TGGAGGGCTTCGCTGGGGCCC	0.572000														24			15		0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409764	69409764	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:69409764C>T	uc002sfg.3	+	15	1681	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	442					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	p.S442S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CGGCCTTCTTCCCCCCGGAAG	0.423000									Familial Infantile Hemangioma					83			27		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034117	52034117	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52034117C>T	uc002pwy.3	-	2	732	c.524G>A	c.(523-525)gGg>gAg	p.G175E	SIGLEC6_uc002pwz.3_Missense_Mutation_p.G175E|SIGLEC6_uc010ydb.2_Missense_Mutation_p.G139E|SIGLEC6_uc010ydc.2_Missense_Mutation_p.G175E|SIGLEC6_uc002pxa.3_Missense_Mutation_p.G175E|SIGLEC6_uc010eoz.2_Missense_Mutation_p.G164E|SIGLEC6_uc010epa.2_Missense_Mutation_p.G164E|SIGLEC6_uc010epb.2_Missense_Mutation_p.G128E	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	175	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGGGGGCGTCCCCTGCTCACA	0.667000														101			41		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831698	61831698	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61831698C>T	uc001jky.3	-	36	9279	c.8941G>A	c.(8941-8943)Gaa>Aaa	p.E2981K	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.	2981					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						GCCGACTGTTCACAAAAACCA	0.438000														61			28		0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186389428	186389428	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:186389428C>T	uc003fqq.3	+	3	431	c.408C>T	c.(406-408)gcC>gcT	p.A136A		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	136	Cystatin 1.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CAGCACTGGCCAATACCAAAG	0.433000														70			40		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16138400	16138400	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:16138400C>T	uc010bvi.3	+	7	1078	c.903C>T	c.(901-903)atC>atT	p.I301I	ABCC1_uc010bvj.3_Silent_p.I301I|ABCC1_uc010bvk.3_Silent_p.I301I|ABCC1_uc010bvl.3_Silent_p.I301I|ABCC1_uc010bvm.3_Silent_p.I301I|ABCC1_uc002del.4_Silent_p.I185I|ABCC1_uc010bvn.3_Silent_p.I164I	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	301					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGGCTTTGATCGTCAAGTCCC	0.532000														62			24		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043470	20043470	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20043470G>A	uc002dgu.1	-	1	811	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	GPR139_uc010vaw.1_Missense_Mutation_p.R124C	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	217						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CCACGGAGACGAAAATTGCTC	0.507000														70			21		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140744773	140744773	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140744773C>T	uc003lju.2	+	0	876	c.876C>T	c.(874-876)ttC>ttT	p.F292F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.F292F	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	293	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)			CGGAGACTTTCCAACTTGATT	0.463000														36			12		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44803639	44803639	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44803639C>T	uc002xrm.2	-	10	2392	c.1993G>A	c.(1993-1995)Gac>Aac	p.D665N	CDH22_uc010ghk.1_Missense_Mutation_p.D665N	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	665					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ATGACGTTGTCCCGCATGTCT	0.627000														46			15		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578102	9578102	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9578102C>T	uc002mlp.1	-	9	1731	c.1521G>A	c.(1519-1521)ttG>ttA	p.L507L	ZNF560_uc010dwr.1_Silent_p.L401L	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGTGAGTTCTCAAATGAGCAA	0.408000														102			43		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10140504	10140504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10140504C>T	uc003buw.3	+	42	4364	c.4286C>T	c.(4285-4287)tCt>tTt	p.S1429F	FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc010hcw.1_Intron|C3orf24_uc003buz.3_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	1429					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ACTGAGGTATCTCTACAAAAC	0.448000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					68			32		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101813497	101813497	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:101813497G>A	uc003knn.3	-	2	857	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Silent_p.L229L|SLCO6A1_uc003knq.3_Intron	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	229						integral to membrane|plasma membrane	transporter activity	p.L229Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAGAAAGACAGGTATTTTGAT	0.363000														160			39		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544344	82544344	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82544344C>T	uc003uhx.2	-	6	13247	c.12958G>A	c.(12958-12960)Gag>Aag	p.E4320K	PCLO_uc003uhv.2_Missense_Mutation_p.E4320K|PCLO_uc010lec.3_Missense_Mutation_p.E1285K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4251					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						GCTTCAGCCTCTTGAGCTTTC	0.443000														28			14		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196659107	196659107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196659107C>T	uc002utj.4	-	56	10772	c.10671G>A	c.(10669-10671)atG>atA	p.M3557I	DNAH7_uc002uti.4_Missense_Mutation_p.M40I	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3557	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGATCGGGTCCATGAGGTATG	0.458000														109			45		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96944880	96944880	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:96944880G>A	uc001yfn.2	+	14	1678	c.1634G>A	c.(1633-1635)gGg>gAg	p.G545E		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	545					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)		ATCGTGGCGGGGACCCACTAC	0.502000														75			27		0	0	1	0	0
PODXL2	50512	broad.mit.edu	37	3	127358154	127358154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:127358154C>T	uc003ejq.2	+	1	161	c.137C>T	c.(136-138)tCc>tTc	p.S46F		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	Homo sapiens podocalyxin-like 2 (PODXL2), mRNA.	46					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						ACCTCCACCTCCCTGCTAGAC	0.642000														54			18		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110833706	110833706	+	Missense_Mutation	SNP	G	A	A	rs150129180	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:110833706G>A	uc001vqw.4	-	28	2248	c.2126C>T	c.(2125-2127)cCa>cTa	p.P709L		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	709	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGTCCCCGGTGGCCCCATGTC	0.507000														22			11		0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57270922	57270922	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:57270922G>A	uc001xcq.3	-	3	531	c.257C>T	c.(256-258)cCc>cTc	p.P86L	OTX2_uc001xcp.3_Missense_Mutation_p.P78L|OTX2_uc021rtm.1_Intron|OTX2_uc010aou.3_Missense_Mutation_p.P78L	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	78					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CCTCGACTCGGGCAAGTTGAT	0.567000														58			12		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79025987	79025987	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:79025987G>A	uc003kgc.3	+	1	1471	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	467						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAAGGGCAGAACCAGTCTC	0.512000														116			38		0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52569430	52569430	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52569430G>A	uc010ydh.1	-	6	2165	c.1705C>T	c.(1705-1707)Ctc>Ttc	p.L569F	ZNF841_uc002pyl.1_Missense_Mutation_p.L453F	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TTACAATGGAGAGGTTTCTCT	0.403000														68			19		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111850537	111850537	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:111850537G>A	uc010yxk.1	+	16	1760	c.1536G>A	c.(1534-1536)agG>agA	p.R512R	ACOXL_uc021vmm.1_Silent_p.R365R|ACOXL_uc021vmn.1_Silent_p.R335R	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	542				C -> R (in Ref. 4; BAA91970).	fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CGAGGATCAGGAATCAGGTAA	0.458000														54			26		0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142405204	142405204	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:142405204C>T	uc010huv.3	+	8	1126	c.967C>T	c.(967-969)Ctt>Ttt	p.L323F	PLS1_uc003euz.3_Missense_Mutation_p.L323F|PLS1_uc003eva.3_Missense_Mutation_p.L323F	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	323	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TGCCATTGACCTTTCAGGAAT	0.348000														118			28		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719243	140719243	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140719243G>A	uc003ljk.2	+	0	890	c.705G>A	c.(703-705)gcG>gcA	p.A235A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.A235A	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	235	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A235A(2)		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)			TCCTGGATGCGAACGACAATG	0.592000														82			28		0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79629664	79629664	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:79629664C>A	uc003ybd.3	+	8	1016	c.914C>A	c.(913-915)aCt>aAt	p.T305N		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	Homo sapiens family with sequence similarity 164, member A (FAM164A), mRNA.	305																	GAGTGTGGGACTAAATACCCT	0.388000														131			58		2.60599e-31	2.62235e-31	1	1	0
TTN	7273	broad.mit.edu	37	2	179594268	179594268	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179594268C>T	uc021vsy.1	-	60	15108	c.14883G>A	c.(14881-14883)ctG>ctA	p.L4961L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L1622L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5888	Ig-like 30.						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)			CCACAGGCTTCAGCTCTCTGA	0.463000														98			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181539	140181539	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140181539G>A	uc003lhf.2	+	0	757	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.E253K	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	268	Cadherin 2.				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)			CAGATTACTCGAAAATGCACC	0.443000														53			24		0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95496819	95496819	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:95496819C>T	uc003hti.3	+	4	495	c.344C>T	c.(343-345)tCc>tTc	p.S115F	PDLIM5_uc003htf.3_Intron|PDLIM5_uc003htg.3_Intron|PDLIM5_uc011cdx.1_Intron|PDLIM5_uc003htj.3_Intron|PDLIM5_uc003htk.3_Intron|PDLIM5_uc011cdy.2_5'UTR|PDLIM5_uc003hth.3_Intron	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	115					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CCTGCTGTGTCCAAAGTCACT	0.428000														139			52		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81706230	81706230	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81706230C>T	uc001kbh.3	-	1	229	c.186G>A	c.(184-186)gaG>gaA	p.E62E		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	62	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GGTCCCCCTTCTCGCCCCGAG	0.602000														47			24		0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145894735	145894735	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:145894735C>T	uc003lod.1	-	0	942	c.942G>A	c.(940-942)agG>agA	p.R314R		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	314						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAAGCCTTCCCTGAACTCTT	0.468000														45			10		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119954500	119954500	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:119954500G>A	uc001txe.3	+	7	1421	c.956G>A	c.(955-957)aGa>aAa	p.R319K	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	319										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGGATGCAAAGAAAAGCACCC	0.448000														40			12		0	0	1	0	0
C11orf92	399948	broad.mit.edu	37	11	111166744	111166744	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:111166744C>T	uc001pld.3	-	1		c.2869G>A			C11orf92_uc001ple.3_Non-coding_Transcript					Homo sapiens chromosome 11 open reading frame 92 (C11orf92), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(1)	3						AAAGATCCTCCCTTACTTCCA	0.458000														22			9		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233397849	233397849	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233397849G>A	uc001hvl.2	-	2	657	c.422C>T	c.(421-423)cCc>cTc	p.P141L	PCNXL2_uc009xfu.3_5'Flank|PCNXL2_uc009xfv.1_5'Flank	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	141						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)				GCAGCGGAGGGGAGGCGTGGA	0.488000														163			16		0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70514339	70514339	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:70514339C>T	uc001vip.3	-	3	1641	c.847G>A	c.(847-849)Gag>Aag	p.E283K	KLHL1_uc010thm.2_Missense_Mutation_p.E222K	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	283					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGAAGGTTCTCAATGGTGTCC	0.393000														27			13		0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7966949	7966949	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7966949C>T	uc010sgh.2	-	9	1592	c.1571G>A	c.(1570-1572)aGc>aAc	p.S524N	SLC2A14_uc001qtk.3_Missense_Mutation_p.S509N|SLC2A14_uc001qtl.3_Missense_Mutation_p.S486N|SLC2A14_uc001qtm.3_Missense_Mutation_p.S486N|SLC2A14_uc010sgg.2_Missense_Mutation_p.S400N|SLC2A14_uc001qtn.3_Missense_Mutation_p.S509N|SLC2A14_uc001qto.3_Missense_Mutation_p.S144N	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	509					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AGGCTCGATGCTGTTCATCCC	0.577000														276			31		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409179	105409179	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105409179C>T	uc010axc.1	-	6	12729	c.12609G>A	c.(12607-12609)gaG>gaA	p.E4203E	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.E4103E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4203						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCAGGGGGCCCTCCGGGAGTT	0.652000														190			81		0	0	1	0	0
LCP2	3937	broad.mit.edu	37	5	169720347	169720347	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:169720347C>T	uc003man.1	-	1	315	c.108G>A	c.(106-108)gtG>gtA	p.V36V	LCP2_uc011det.1_5'UTR	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA.	36	SAM.				T cell receptor signaling pathway|immune response|platelet activation|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGTACTTCTTCACTGCCTTCT	0.522000														15			10		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166658	19166658	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:19166658G>A	uc001bba.1	-	5	1956	c.1955C>T	c.(1954-1956)tCt>tTt	p.S652F		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	652					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GATCTGGAAAGAACGCACGGC	0.617000														114			55		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3658762	3658762	+	Silent	SNP	C	T	T	rs146442815		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:3658762C>T	uc003smx.3	+	1	488	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	117	Ig-like C2-type 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACAGATCCACCTGGAAGGGAA	0.473000														24			12		0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86392931	86392931	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:86392931G>A	uc003ydk.2	+	6	876	c.696G>A	c.(694-696)ggG>ggA	p.G232G	CA2_uc022axe.1_Non-coding_Transcript	NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	232					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	ACTTCAATGGGGAGGGTGAAC	0.393000														45			23		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70303932	70303932	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:70303932G>A	uc001dep.3	+	4	529	c.499G>A	c.(499-501)Gag>Aag	p.E167K	LRRC7_uc001deo.1_Missense_Mutation_p.E205K|LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	167						centrosome|focal adhesion|nucleolus	protein binding	p.L166L(1)		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						GCGGATCTTGGAGTTAAGAGA	0.289000														45			8		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10602129	10602129	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:10602129C>T	uc010rcc.1	-	19	2754	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Missense_Mutation_p.E782K|MRVI1_uc001miw.2_Missense_Mutation_p.E781K|MRVI1_uc001mix.3_Missense_Mutation_p.E475K|MRVI1_uc001miz.2_Missense_Mutation_p.E699K|MRVI1_uc010rcd.1_Missense_Mutation_p.E584K|MRVI1_uc009ygd.1_Missense_Mutation_p.E475K	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	763	Glu-rich.				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTTAGACCTTCTTGGAATCTG	0.498000														107			14		0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118351390	118351390	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:118351390G>C	uc001lco.1	+	2	175	c.157G>C	c.(157-159)Ggc>Cgc	p.G53R	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.G53R|PNLIPRP1_uc001lcn.3_Missense_Mutation_p.G53R|PNLIPRP1_uc009xys.1_Non-coding_Transcript	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	53					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TGAGAAGATCGGCACCCGCTT	0.532000														156			19		0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136537829	136537829	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136537829C>T	uc002tur.3	+	11	1573	c.1262C>T	c.(1261-1263)cCa>cTa	p.P421L	UBXN4_uc002tus.3_Missense_Mutation_p.P187L|UBXN4_uc002tut.3_Missense_Mutation_p.P57L	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	Homo sapiens UBX domain protein 4 (UBXN4), mRNA.	421					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	p.P421S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GTGCTTTATCCATTCCTTGCC	0.438000														121			45		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155250772	155250772	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155250772C>T	uc003inw.2	-	10	2456	c.2456G>A	c.(2455-2457)cGa>cAa	p.R819Q	DCHS2_uc003inx.2_Missense_Mutation_p.R1274Q	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	819	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGTGGCGTTTCGTGGTGGGGA	0.542000														41			22		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180727	142180727	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142180727C>T	uc011krz.2	-	1	181	c.132G>A	c.(130-132)caG>caA	p.Q44Q	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Silent_p.Q44Q|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GGTTCATATCCTGGGCACACT	0.512000														465			29		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236212147	236212147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:236212147C>T	uc001hxo.3	-	1	470	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	NID1_uc009xgd.3_Missense_Mutation_p.R123Q	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	123	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TAAGTCTTCTCGATAATAAAC	0.567000														66			22		0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2049525	2049525	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2049525G>A	uc002cof.1	-	10	2040	c.2025C>T	c.(2023-2025)ccC>ccT	p.P675P	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_Silent_p.P39P	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	675	Pro-rich.					intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGGGTGGGCAGGGGCCGCCGA	0.751000														13			4		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141128297	141128297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141128297C>T	uc002tvj.1	-	70	11962	c.10990G>A	c.(10990-10992)Gaa>Aaa	p.E3664K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3664	LDL-receptor class A 29.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTTCTCTTCATCACTGCCA	0.393000										TSP Lung(27;0.18)				229			111		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559734	140559734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140559734C>T	uc011dai.2	+	0	2364	c.2119C>T	c.(2119-2121)Ctc>Ttc	p.L707F	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	707					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCTCGGTGCTCCTGTTCGT	0.672000														200			46		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40033909	40033909	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:40033909G>A	uc002xka.1	-	36	7650	c.7472C>T	c.(7471-7473)cCc>cTc	p.P2491L	CHD6_uc002xjz.1_Missense_Mutation_p.P28L	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2491					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCCGGTGAGGGGGATGCCTGG	0.562000														91			8		0	0	1	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285506	248285506	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248285506C>T	uc001idy.1	+	0	69	c.69C>T	c.(67-69)tcC>tcT	p.S23S						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		GCAGCAAGTCCATTTCTATGG	0.488000														298			95		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96781867	96781867	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:96781867G>T	uc001yfi.3	-	21	3780	c.3415C>A	c.(3415-3417)Cgc>Agc	p.R1139S		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1139										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAGTGTGGGCGGGTTGAGCTG	0.428000														43			8		3.09899e-07	3.10621e-07	1	1	0
COX4I1	1327	broad.mit.edu	37	16	85840354	85840354	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:85840354C>T	uc002fje.3	+	4	571	c.384C>T	c.(382-384)ccC>ccT	p.P128P	COX4I1_uc002fjf.3_3'UTR	NM_001861	NP_001852	P13073	COX41_HUMAN	Homo sapiens cytochrome c oxidase subunit IV isoform 1 (COX4I1), nuclear gene encoding mitochondrial protein, mRNA.	128					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				TGTACGGCCCCCTCCCGCAAA	0.542000														64			22		0	0	1	0	0
CBLN4	140689	broad.mit.edu	37	20	54579090	54579090	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:54579090C>T	uc002xxa.3	-	0	923	c.138G>A	c.(136-138)tcG>tcA	p.S46S		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	46						cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TGGCCGGGTTCGAGTCGCACA	0.687000														46			10		0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51122405	51122405	+	Silent	SNP	C	T	T	rs61745502	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51122405C>T	uc001rwv.3	+	29	3741	c.3585C>T	c.(3583-3585)atC>atT	p.I1195I	DIP2B_uc009zlt.3_Silent_p.I625I	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	1195						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTCGGCAGATCGCCATCTGCC	0.527000														61			7		0	0	1	0	0
ERP27	121506	broad.mit.edu	37	12	15090925	15090925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:15090925G>A	uc001rco.3	-	1	177	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA.	52	Thioredoxin.		F -> L (in dbSNP:rs35030722).			endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TGGCAGCAATGAATTCCATGG	0.522000														154			12		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53007517	53007517	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53007517G>A	uc001sas.3	-	4	974	c.939C>T	c.(937-939)atC>atT	p.I313I		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	313	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTTCCGGGCGATCTCCTCAT	0.597000														82			33		0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21469372	21469372	+	Nonsense_Mutation	SNP	C	T	T	rs1042848		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:21469372C>T	uc003sva.3	+	2	770	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	SP4_uc003svb.3_5'UTR	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	197			Q -> K (in dbSNP:rs1042848).		regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GGGTCAAATTCAGCTCATTTC	0.408000														89			39		0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116758449	116758449	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:116758449C>T	uc011ebg.2	+	5	2974	c.2875C>T	c.(2875-2877)Ctc>Ttc	p.L959F	DSE_uc003pws.3_Missense_Mutation_p.L940F|DSE_uc003pwt.3_Missense_Mutation_p.L940F|DSE_uc003pwu.3_Missense_Mutation_p.L607F	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	940					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TGCAGTTCTTCTCATAGATAG	0.388000														56			18		0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681681	55681681	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55681681G>A	uc010rir.2	-	0	378	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGGGGTTGATGATGGCCTTGT	0.458000														49			29		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138208520	138208520	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:138208520T>C	uc002tva.1	+	13	2972	c.2972T>C	c.(2971-2973)aTt>aCt	p.I991T	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGAGTGAGAATTCGATCCAAA	0.403000														16			8		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415927	86415927	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:86415927C>T	uc003uid.3	+	2	1918	c.819C>T	c.(817-819)gtC>gtT	p.V273V	GRM3_uc010lef.3_Silent_p.V271V|GRM3_uc010leg.3_Silent_p.V145V|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	273					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)	GCGTCGTGGTCCTCTTCATGC	0.672000														74			8		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83610752	83610752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:83610752G>A	uc003uhz.3	-	13	1852	c.1537C>T	c.(1537-1539)Cct>Tct	p.P513S		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	513	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CGGTGTAAAGGGAGCTGGGCA	0.463000														50			6		0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100235830	100235830	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:100235830C>T	uc004axj.3	+	10	2226	c.2001C>T	c.(1999-2001)ctC>ctT	p.L667L	TDRD7_uc011lux.2_Silent_p.L593L|TDRD7_uc010msp.1_5'UTR|TDRD7_uc011luy.2_Silent_p.L16L	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	667					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATGGGACACTCTACTGCCAGG	0.438000														183			13		0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48220020	48220020	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:48220020G>A	uc002phj.4	+	1	401	c.151G>A	c.(151-153)Gag>Aag	p.E51K	EHD2_uc010xyu.2_Intron	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	51					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GCCGGCCCTGGAGGACGCAGA	0.662000														25			11		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3721927	3721927	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:3721927G>A	uc001lyh.3	-	23	4076	c.3655C>T	c.(3655-3657)Ctc>Ttc	p.L1219F	NUP98_uc001lyi.3_Missense_Mutation_p.L1219F|NUP98_uc001lyg.3_Missense_Mutation_p.L184F	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1236					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GGGACAATGAGAGGACACAGT	0.423000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									57			14		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52177838	52177838	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:52177838G>A	uc003jou.3	+	6	1172	c.758G>A	c.(757-759)gGa>gAa	p.G253E	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	253	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ACAGCTCTTGGAATAGACACA	0.378000														27			5		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466553	56466553	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56466553G>A	uc002qmh.3	+	2	1200	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	NLRP8_uc010etg.3_Missense_Mutation_p.D377N	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	377	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGAGGAGGGAGACCAAGTCTT	0.478000														103			27		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537337	5537337	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5537337G>A	uc001maz.4	-	0	620	c.335C>T	c.(334-336)tCc>tTc	p.S112F	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	112										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GTCCCGGAAGGAATGGGCTAG	0.537000														70			19		0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24874210	24874210	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:24874210C>T	uc003sxf.3	-	14	2046	c.1641G>A	c.(1639-1641)gtG>gtA	p.V547V	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Silent_p.V511V|OSBPL3_uc003sxh.3_Silent_p.V516V|OSBPL3_uc003sxi.3_Silent_p.V480V|OSBPL3_uc003sxj.1_Silent_p.V276V|OSBPL3_uc003sxk.1_Silent_p.V245V	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	547					lipid transport		lipid binding|protein binding	p.P546P(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CGTTCAGCTCCACCGGCATGG	0.637000														56			26		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1653404	1653404	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1653404G>A	uc002qxa.3	-	16	2212	c.2148C>T	c.(2146-2148)ctC>ctT	p.L716L		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	716					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.N715K(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGTTTGCGATGAGGTTCAGGT	0.582000														86			10		0	0	1	0	0
ZNF625	90589	broad.mit.edu	37	19	12256752	12256753	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12256752_12256753CC>TT	uc010dyo.2	-	3	651_652	c.478_479GG>AA	c.(478-480)ggg>AAg	p.G160K	ZNF20_uc002mtg.2_Intron|ZNF625_uc010dyn.2_Non-coding_Transcript|ZNF625_uc002mth.3_Missense_Mutation_p.G94K|ZNF625_uc021upn.1_Missense_Mutation_p.G94K	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	Homo sapiens zinc finger protein 625 (ZNF625), transcript variant 1, mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						ATAAGGTTTCCCCCCAGTGTGA	0.426000														146			19		0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53823694	53823694	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53823694G>A	uc001scx.2	+	8	1300	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q	AMHR2_uc009zmy.2_Missense_Mutation_p.R407Q|AMHR2_uc021qyg.1_Intron	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	407	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	p.R407*(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCCCTCCGACGAGCTGATATT	0.582000														52			19		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533858	92533858	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92533858G>A	uc001pdj.4	+	8	7696	c.7679G>A	c.(7678-7680)cGg>cAg	p.R2560Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2560	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGCTAGACCGGGAAAACCCT	0.473000										TCGA Ovarian(4;0.039)				27			11		0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100433464	100433464	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:100433464G>A	uc001tgq.3	-	19	4414	c.4185C>T	c.(4183-4185)gtC>gtT	p.V1395V	UHRF1BP1L_uc001tgp.3_Silent_p.V1045V	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	1395										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGGCTTGCGTGACACTGCGTT	0.458000														55			17		0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4577868	4577868	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:4577868G>A	uc002fyi.4	-	12	1745	c.1519C>T	c.(1519-1521)Ccg>Tcg	p.P507S	PELP1_uc010vsf.2_Missense_Mutation_p.P360S	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	507					transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TGGCTTGGCGGGGCCATAGCT	0.642000														26			7		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451527	38451527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38451527C>T	uc003jlc.2	+	19	3024	c.2678C>T	c.(2677-2679)tCc>tTc	p.S893F	EGFLAM_uc003jlb.2_Missense_Mutation_p.S885F|EGFLAM_uc003jle.2_Missense_Mutation_p.S651F|EGFLAM_uc003jlf.2_Missense_Mutation_p.S251F|EGFLAM_uc003jlg.2_Missense_Mutation_p.S28F	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	893	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GACTTCATTTCCTTGGGCCTT	0.517000														102			37		0	0	1	0	0
IFNG	3458	broad.mit.edu	37	12	68552030	68552030	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:68552030G>A	uc001stw.1	-	1	250	c.124C>T	c.(124-126)Cat>Tat	p.H42Y		NM_000619	NP_000610	P01579	IFNG_HUMAN	Homo sapiens interferon, gamma (IFNG), mRNA.	42					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	ACATCTGAATGACCTGCATTC	0.313000														27			12		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133053934	133053935	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133053934_133053935GG>AA	uc003ytg.2	-	2	133_134	c.133_134CC>TT	c.(133-135)ccc>TTc	p.P45F	OC90_uc011lix.1_Missense_Mutation_p.P61F	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	61					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGTGAAGTGGGGGCCCAGGCAA	0.584000														17			9		0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113138932	113138932	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:113138932G>A	uc003ead.2	-	4	569	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	WDR52_uc003eae.2_Silent_p.L168L	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	168										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTCAAATTCAGAAAGATCAGT	0.428000														41			10		0	0	1	0	0
RNPS1	10921	broad.mit.edu	37	16	2304009	2304009	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2304009G>A	uc002cpt.3	-	7	1420	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	ECI1_uc002cpr.3_5'Flank|ECI1_uc002cps.3_5'Flank|RNPS1_uc002cpu.3_Missense_Mutation_p.R292C|RNPS1_uc002cpw.3_Missense_Mutation_p.R292C|RNPS1_uc002cpx.3_Missense_Mutation_p.R269C|RNPS1_uc010uwa.2_Non-coding_Transcript	NM_080594	NP_542161	Q15287	RNPS1_HUMAN	Homo sapiens RNA binding protein S1, serine-rich domain (RNPS1), transcript variant 2, mRNA.	292	Arg/Pro-rich.|Necessary for interaction with TRA2B, nuclear localization and exon-skipping.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						TGGCGGCGGCGGCCCGGGGAC	0.647000														1			2		0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31852266	31852266	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31852266G>A	uc003nxz.1	-	20	2684	c.2674C>T	c.(2674-2676)Ccc>Tcc	p.P892S	EHMT2_uc003nxx.1_Missense_Mutation_p.P90S|EHMT2_uc003nxy.1_Missense_Mutation_p.P690S|EHMT2_uc011don.1_Missense_Mutation_p.P915S|EHMT2_uc003nya.1_Missense_Mutation_p.P858S	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	892					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GAGCGCTCGGGAGTCAGGTCC	0.602000														109			42		0	0	1	0	0
SPINK4	27290	broad.mit.edu	37	9	33246683	33246683	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:33246683G>A	uc003zsh.3	+	2	183	c.172G>A	c.(172-174)Ggg>Agg	p.G58R		NM_014471	NP_055286	O60575	ISK4_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 4 (SPINK4), mRNA.	58	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity	p.D57H(1)		lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			CGGCACTGATGGGCTCACATA	0.567000														52			23		0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5434069	5434069	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:5434069G>A	uc002kmt.1	-	6	743	c.657C>T	c.(655-657)ccC>ccT	p.P219P	EPB41L3_uc010wzh.1_Silent_p.P219P|EPB41L3_uc002kmu.1_Silent_p.P219P|EPB41L3_uc010dkq.1_Silent_p.P110P|EPB41L3_uc010dks.1_Silent_p.P241P|EPB41L3_uc002kmv.1_Silent_p.P110P	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	219	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CAAAGGAGCAGGGCAGCCTTC	0.527000														94			23		0	0	1	0	0
SOLH	6650	broad.mit.edu	37	16	598008	598008	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:598008C>T	uc002chi.3	+	3	1533	c.1170C>T	c.(1168-1170)agC>agT	p.S390S	SOLH_uc002chh.1_Silent_p.S390S	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	390					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				ACAAGCCCAGCCCCTGCGGCA	0.746000														8			3		0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37398589	37398589	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:37398589G>A	uc002rpu.3	-	5	676	c.655C>T	c.(655-657)Ctt>Ttt	p.L219F	SULT6B1_uc010yni.2_Non-coding_Transcript	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA.	257						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TTGCGGAAAAGGAATGGGCCG	0.463000														115			41		0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155154119	155154119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:155154119C>T	uc003qqa.3	+	20	3638	c.3406C>T	c.(3406-3408)Cct>Tct	p.P1136S	TIAM2_uc003qqb.3_5'UTR|SCAF8_uc011efj.2_Missense_Mutation_p.P1202S|SCAF8_uc011efk.2_Missense_Mutation_p.P1181S|SCAF8_uc003qpz.3_Missense_Mutation_p.P1136S|SCAF8_uc010kji.3_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA.	1136	Arg-rich.				RNA splicing|mRNA processing	nuclear matrix|spliceosomal complex	RNA binding|RNA polymerase core enzyme binding|nucleotide binding	p.G1135D(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TAGAAGTGGTCCTTGGAACCG	0.458000														52			28		0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24681389	24681389	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:24681389G>T	uc003swx.3	+	3	471	c.172G>T	c.(172-174)Gaa>Taa	p.E58*	MPP6_uc003swy.3_Nonsense_Mutation_p.E58*	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	58	L27 2.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CAATAACTTGGAATTAGTCAA	0.338000														79			32		2.08457e-15	2.09461e-15	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30935936	30935937	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:30935936_30935937GG>AA	uc002nsu.1	+	1	1605_1606	c.1467_1468GG>AA	c.(1465-1470)ctggga>ctAAga	p.G490R	ZNF536_uc010edd.1_Missense_Mutation_p.G490R	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L489L(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACTCCCTCCTGGGATGCCTCAA	0.658000														54			26		0	0	1	0	0
FAM86B1	85002	broad.mit.edu	37	8	12044027	12044027	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:12044027C>T	uc010lse.3	-	4	519	c.474G>A	c.(472-474)cgG>cgA	p.R158R	LOC100506990_uc011kxp.1_Intron|FAM86B1_uc003wvf.4_Intron|FAM86B1_uc010lsd.3_Intron|FAM86B1_uc003wvh.4_Intron|FAM86B1_uc003wvi.4_Intron|FAM86B1_uc010lsf.3_Intron|FAM86B1_uc010lsg.3_Intron|FAM86B1_uc003wvl.4_Intron|FAM86B1_uc011kxq.2_Intron	NM_001083537	NP_001077006	Q8N7N1	F86B1_HUMAN	Homo sapiens family with sequence similarity 86, member B1 (FAM86B1), transcript variant 1, mRNA.	158										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		GCTCGAGGACCCGGCTGTGAG	0.612000														44			12		0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234460143	234460143	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234460143G>A	uc010zmr.2	-	5	752	c.752C>T	c.(751-753)cCt>cTt	p.P251L	USP40_uc010zmt.1_5'Flank|USP40_uc010zmu.1_Missense_Mutation_p.P239L	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	239					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAGAAAAGGAGGCAGCTTACG	0.318000														12			4		0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	609451	609451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:609451C>T	uc001lqe.3	+	13	4126	c.3995C>T	c.(3994-3996)tCg>tTg	p.S1332L	PHRF1_uc010qwc.2_Missense_Mutation_p.S1331L|PHRF1_uc010qwd.2_Missense_Mutation_p.S1330L|PHRF1_uc010qwe.2_Missense_Mutation_p.S1328L|PHRF1_uc009ybz.1_Missense_Mutation_p.S1122L|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	1332							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAAGACCCTTCGCAGCCCCCA	0.672000														26			6		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120032	103120032	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103120032C>T	uc002tbz.4	+	2	1303	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	282					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						TGTTTGGCATCGTTTTTGGAT	0.398000														51			21		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7675818	7675818	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7675818G>A	uc002mgu.4	+	10	1231	c.1130_splice	c.e10+1	p.S377_splice	CAMSAP3_uc002mgv.4_Splice_Site_p.S350_splice	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	350					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCGGCAGTAGGTACGCTCCCC	0.642000														77			23		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52539139	52539139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:52539139G>A	uc001vfw.2	-	4	1895	c.1738C>T	c.(1738-1740)Cac>Tac	p.H580Y	ATP7B_uc001vfy.2_Missense_Mutation_p.H469Y|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.H580Y|ATP7B_uc010tgt.1_Missense_Mutation_p.H580Y|ATP7B_uc010tgu.1_Missense_Mutation_p.H580Y|ATP7B_uc010tgv.1_Missense_Mutation_p.H580Y|ATP7B_uc010tgw.1_Intron	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	580	HMA 6.				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	p.H580N(2)		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)		TCTATGTTGTGGACACAGGAC	0.517000									Wilson disease					60			32		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38568232	38568232	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:38568232A>T	uc002yvz.3	+	41	5579	c.5474A>T	c.(5473-5475)aAg>aTg	p.K1825M	TTC3_uc002ywa.3_Missense_Mutation_p.K1825M|TTC3_uc002ywb.3_Missense_Mutation_p.K1825M|TTC3_uc010gnf.3_Missense_Mutation_p.K1590M|TTC3_uc002ywc.3_Missense_Mutation_p.K1515M	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1825					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GCTGATCGGAAGCAGCCTGTT	0.572000														30			19		0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46326989	46326989	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46326989G>A	uc002zgd.2	-	2	213	c.169C>T	c.(169-171)Cct>Tct	p.P57S	ITGB2_uc002zgf.3_Missense_Mutation_p.P57S|ITGB2_uc011afl.1_5'UTR|ITGB2_uc010gpw.2_Missense_Mutation_p.P57S|ITGB2_uc002zgg.2_Missense_Mutation_p.P57S	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	57					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	ATGGAGTCAGGATCCCCCGGC	0.652000														42			15		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117686752	117686752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:117686752G>A	uc003pxp.1	-	18	3164	c.2965C>T	c.(2965-2967)Cat>Tat	p.H989Y	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	989	Fibronectin type-III 4.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACCTTAGAATGAGCACTAAAT	0.423000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									42			24		0	0	1	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323870	44323870	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:44323870C>T	uc002zcm.3	+	2	814	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	NDUFV3_uc002zcn.3_Intron	NM_021075	NP_066553	P56181	NDUV3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa (NDUFV3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	20					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	AACCACAATGCCCAGATCTCA	0.398000														179			20		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96024216	96024216	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:96024216C>T	uc004ati.1	+	11	3187	c.3187C>T	c.(3187-3189)Cct>Tct	p.P1063S	WNK2_uc011lud.1_Missense_Mutation_p.P1063S|WNK2_uc004atj.3_Missense_Mutation_p.P1063S|WNK2_uc004atk.3_Missense_Mutation_p.P700S	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1063					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCCTGCCGCCCCTGAGCTCCT	0.682000														23			6		0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220791985	220791985	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:220791985G>A	uc009xdw.3	+	8	1394	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	MARK1_uc001hmn.4_Missense_Mutation_p.R266Q|MARK1_uc010pun.2_Missense_Mutation_p.R266Q|MARK1_uc001hmm.4_Missense_Mutation_p.R244Q	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	266	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AAGGAACTGCGAGAGCGAGTT	0.338000														100			33		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941460	22941460	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22941460T>C	uc021urt.1	-	3	1406	c.1251A>G	c.(1249-1251)gtA>gtG	p.V417V		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.P417P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CAGTATGAATTACCTTATGTA	0.358000														63			19		0	0	1	0	0
TMEM8C	389827	broad.mit.edu	37	9	136380695	136380695	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:136380695G>A	uc011mdk.2	-	3	536	c.434C>T	c.(433-435)cCa>cTa	p.P145L		NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN	Homo sapiens transmembrane protein 8C (TMEM8C), mRNA.	145						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GCTCTTGTCTGGGTACAGGCC	0.597000														48			30		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086447	92086447	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92086447C>T	uc001pdj.4	+	0	1186	c.1169C>T	c.(1168-1170)cCt>cTt	p.P390L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	390	Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAATTTTCCCCTCCTGGTGTC	0.398000										TCGA Ovarian(4;0.039)				19			11		0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8196618	8196618	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8196618C>T	uc001qtu.3	+	4	1634	c.549C>T	c.(547-549)gcC>gcT	p.A183A	FOXJ2_uc001qtt.1_Silent_p.A183A	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	183					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GTGGAGAAGCCTCACTGCCTC	0.547000														88			31		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897633	175897633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:175897633G>A	uc003iuc.3	+	4	1627	c.957G>A	c.(955-957)atG>atA	p.M319I	ADAM29_uc003iud.3_Missense_Mutation_p.M319I|ADAM29_uc010irr.3_Missense_Mutation_p.M319I|ADAM29_uc011cki.2_Missense_Mutation_p.M319I|ADAM29_uc021xuo.1_Missense_Mutation_p.M319I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	319	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTACTTTCATGAACAAAACTT	0.403000														178			67		0	0	1	0	0
PPARD	5467	broad.mit.edu	37	6	35392492	35392492	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:35392492C>T	uc003okn.3	+	7	1419	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	PPARD_uc003okl.3_Silent_p.F338F|PPARD_uc011dtb.2_Silent_p.F299F|PPARD_uc011dtc.2_Silent_p.F240F|PPARD_uc003okm.3_Silent_p.F338F	NM_001171818	NP_006229	Q03181	PPARD_HUMAN	Homo sapiens peroxisome proliferator-activated receptor delta (PPARD), transcript variant 3, mRNA.	338	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CTGTCAAGTTCAACGCCCTGG	0.547000														38			28		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34006106	34006106	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:34006106G>A	uc011kap.2	+	4	709	c.335G>A	c.(334-336)gGa>gAa	p.G112E		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	112	VWFC 2.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACCTATGAAGGAAATACCTAT	0.438000														48			13		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95603935	95603935	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:95603935C>T	uc001tdp.4	-	1	1349	c.1125G>A	c.(1123-1125)gtG>gtA	p.V375V	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	375					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCATTTTATCCACCTGTTCCT	0.353000														70			27		0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110754499	110754499	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110754499C>T	uc009wfr.3	+	0	1164	c.378C>T	c.(376-378)ttC>ttT	p.F126F	KCNC4_uc001dzf.3_Silent_p.F126F|KCNC4_uc001dzh.3_Silent_p.F126F|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Silent_p.F126F	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	126					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCCGCTCTTCGAAGAGGAGC	0.657000														57			6		0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7712089	7712089	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7712089C>T	uc010xjr.2	+	16	1572	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	STXBP2_uc002mha.4_Silent_p.F498F|STXBP2_uc002mhb.4_Silent_p.F495F|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_3'UTR	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	498					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGGCCCTTCGTATCCGACC	0.736000														54			20		0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422039	1422039	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1422039G>A	uc003jck.3	-	4	870	c.744C>T	c.(742-744)atC>atT	p.I248I		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	248					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGAGCAGCACGATGACCAGCA	0.647000														90			26		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146148	31146148	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:31146148G>A	uc003tca.2	+	15	1546	c.1257G>A	c.(1255-1257)aaG>aaA	p.K419K	ADCYAP1R1_uc003tcg.3_Silent_p.K447K|ADCYAP1R1_uc003tce.2_Silent_p.K446K|ADCYAP1R1_uc003tcb.2_Silent_p.K398K|ADCYAP1R1_uc003tcc.2_Silent_p.K447K	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	419					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GAAGCTGGAAGGTGAACCGTT	0.592000														49			25		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105404490	105404490	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105404490G>A	uc010axc.1	-	6	17418	c.17298C>T	c.(17296-17298)tcC>tcT	p.S5766S	AHNAK2_uc021sen.1_Silent_p.S1163S|AHNAK2_uc021seo.1_Silent_p.S764S|AHNAK2_uc001ypx.2_Silent_p.S5666S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5766						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTCTTGCCGCGGATGTCACCA	0.542000														38			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179575520	179575520	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179575520C>T	uc021vsy.1	-	94	24797	c.24572G>A	c.(24571-24573)aGa>aAa	p.R8191K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R4852K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9118	Ig-like 64.						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)			TCGTATTTCTCTGCTGTCTTT	0.507000														70			20		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64527540	64527540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:64527540C>T	uc003dmg.3	-	32	5203	c.5171G>A	c.(5170-5172)cGa>cAa	p.R1724Q	ADAMTS9_uc011bfo.2_Missense_Mutation_p.R1696Q|ADAMTS9_uc011bfp.1_Missense_Mutation_p.R635Q	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1724	TSP type-1 15.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GCAGGTTTTTCGTTCTTCTGG	0.438000														128			36		0	0	1	0	0
LRRC20	55222	broad.mit.edu	37	10	72061139	72061139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72061139G>A	uc001jqx.1	-	4	748	c.526C>T	c.(526-528)Ccg>Tcg	p.P176S	LRRC20_uc001jqy.1_Missense_Mutation_p.P120S|LRRC20_uc001jqz.1_Missense_Mutation_p.P126S	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN	Homo sapiens leucine rich repeat containing 20 (LRRC20), transcript variant 1, mRNA.	176										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						GCGCCTTCCGGAGACATGAGC	0.647000														59			24		0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88039932	88039932	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:88039932G>A	uc003dqr.2	+	1	191	c.33G>A	c.(31-33)ttG>ttA	p.L11L	HTR1F_uc021xbd.1_Silent_p.L11L	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	11					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	p.L11L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	ATCAAAACTTGACCTCAGAGG	0.373000														120			36		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76382154	76382154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:76382154C>T	uc021rkq.1	+	9	2070	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Missense_Mutation_p.P346S|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Missense_Mutation_p.P252S	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	631						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AATATTAGTTCCTTCATATCG	0.448000														65			7		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432226	140432226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140432226C>T	uc003lik.1	+	0	1248	c.1171C>T	c.(1171-1173)Ccc>Tcc	p.P391S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	391	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAAGACCTTCCCTTTGTAAT	0.473000														77			41		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108006601	108006601	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:108006601G>A	uc001tmk.1	+	5	2375	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	BTBD11_uc009zut.1_Silent_p.A618A|BTBD11_uc001tmj.3_Silent_p.A618A|BTBD11_uc001tml.1_Silent_p.A155A	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	618						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGGACGAGGCGATGGTTCAGA	0.602000														22			7		0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20161138	20161138	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:20161138C>T	uc003cbq.3	+	7	1645	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	400					N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AATTCAACCTCATCTTCCCTT	0.502000														68			35		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54759173	54759173	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54759173C>T	uc010yer.1	-	4	1012	c.901G>A	c.(901-903)Gac>Aac	p.D301N	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.D310N|LILRB5_uc002qez.3_Missense_Mutation_p.D210N|LILRB5_uc002qex.3_Missense_Mutation_p.D310N|LILRB5_uc002qfa.1_Missense_Mutation_p.D200N|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	310	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCAGGGGGTCGCTGGGGGCC	0.667000														42			22		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141135801	141135801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141135801G>A	uc002tvj.1	-	67	11558	c.10586C>T	c.(10585-10587)tCt>tTt	p.S3529F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3529	LDL-receptor class A 26.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAACCTTGAAGAAACACAGTC	0.408000										TSP Lung(27;0.18)				40			17		0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109695723	109695723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:109695723G>A	uc004eor.2	+	2	2124	c.1878G>A	c.(1876-1878)acG>acA	p.T626T	RGAG1_uc011msr.1_Silent_p.T626T	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	626										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCTCAGGAACGATGTTCACGG	0.502000														23			40		0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25201908	25201908	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:25201908C>T	uc002wuj.2	+	10	1164	c.984C>T	c.(982-984)ccC>ccT	p.P328P	ENTPD6_uc010zsy.1_Silent_p.P328P|ENTPD6_uc010gdj.1_Silent_p.P300P|ENTPD6_uc002wum.2_Silent_p.P311P|ENTPD6_uc010zta.1_Silent_p.P328P|ENTPD6_uc002wuk.2_Silent_p.P327P|ENTPD6_uc002wul.2_Silent_p.P327P|ENTPD6_uc010ztb.1_Silent_p.P300P|ENTPD6_uc010ztc.1_Silent_p.P300P|ENTPD6_uc002wuo.2_Silent_p.P80P|ENTPD6_uc010zsz.1_Silent_p.P110P|ENTPD6_uc010ztd.1_Intron|ENTPD6_uc010gdl.1_5'Flank|ENTPD6_uc010gdk.1_5'Flank	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	328						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GCTTGTCTCCCAGTTTCAAAG	0.512000														60			11		0	0	1	0	0
ASF1B	55723	broad.mit.edu	37	19	14247214	14247214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:14247214G>A	uc002mye.3	-	0	227	c.55C>T	c.(55-57)Cac>Tac	p.H19Y	LOC100507373_uc002myf.3_5'Flank	NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN	Homo sapiens ASF1 anti-silencing function 1 homolog B (S. cerevisiae) (ASF1B), mRNA.	19	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						AAGGGGCTGTGGAAAGGGCTC	0.716000														43			13		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908370	103908370	+	Missense_Mutation	SNP	G	A	A	rs145758335		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:103908370G>A	uc001phr.2	+	0	1063	c.820G>A	c.(820-822)Gag>Aag	p.E274K	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	274					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGCTTGTGCCGAGCGATGTAA	0.517000														104			40		0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39597070	39597070	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39597070C>T	uc002hwq.1	-	0	527	c.104G>A	c.(103-105)gGg>gAg	p.G35E		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	35	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GGCCTCTGCCCCAGGCTGGCA	0.617000														39			18		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096686	167096686	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167096686G>A	uc001geb.1	+	4	2334	c.2318G>A	c.(2317-2319)gGa>gAa	p.G773E		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	773					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ATGCTTAGTGGACACAGCAGC	0.577000														84			15		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233393	21233393	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21233393C>T	uc002red.3	-	25	6475	c.6347G>A	c.(6346-6348)gGa>gAa	p.G2116E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2116	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGGAGTTTTCCCAGGGCTGC	0.383000														44			17		0	0	1	0	0
CASP10	843	broad.mit.edu	37	2	202072836	202072836	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:202072836C>T	uc002uxj.1	+	7	1270	c.852C>T	c.(850-852)ggC>ggT	p.G284G	CASP10_uc010zhn.1_Non-coding_Transcript|CASP10_uc010ftb.2_Missense_Mutation_p.P254S|CASP10_uc010fta.1_Intron|CASP10_uc002uxk.1_Silent_p.G241G|CASP10_uc002uxl.2_Silent_p.G284G|CASP10_uc002uxm.2_Silent_p.G241G	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	284					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						ACCACAGAGGCCTCTGTGTCA	0.433000														56			26		0	0	1	0	0
UBC	7316	broad.mit.edu	37	17	21731166	21731166	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:21731166C>T	uc002gyy.3	+	1	593	c.468C>T	c.(466-468)ttC>ttT	p.F156F				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	308	Ubiquitin-like 3.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGCAGATCTTCGTGAAGACCC	0.537000														34			28		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990683	15990683	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15990683G>A	uc002nbs.1	-	9	1190	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	CYP4F2_uc010xot.1_Silent_p.F231F	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	380					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACATGGTCAGGAAGGGCAAAT	0.577000														129			59		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74823635	74823635	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:74823635G>A	uc021rwl.1	+	0	149	c.149G>A	c.(148-150)gGc>gAc	p.G50D	VRTN_uc001xpw.4_Missense_Mutation_p.G50D	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	50					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						CGGGAGGGAGGCCCTGGCCTC	0.637000														100			10		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41961632	41961632	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:41961632G>A	uc010skn.2	+	8	1523	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E	PDZRN4_uc001rmq.4_Silent_p.E247E|PDZRN4_uc009zjz.3_Silent_p.E245E|PDZRN4_uc001rmr.3_Silent_p.E132E	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	505							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCTTAGAGGAGTTAAACTTGG	0.398000														77			17		0	0	1	0	0
LIN9	286826	broad.mit.edu	37	1	226496869	226496869	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:226496869G>A	uc001hqa.2	-	0	330	c.20C>T	c.(19-21)cCt>cTt	p.P7L	LIN9_uc001hqb.2_Missense_Mutation_p.P7L|LIN9_uc001hqc.3_Intron|LIN9_uc009xel.1_Missense_Mutation_p.P7L	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	0	Sufficient for interaction with RB1.				DNA replication|cell cycle	nucleoplasm		p.Q6H(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)		CTTTTTCAAAGGCTGCCCGCC	0.672000														42			22		0	0	1	0	0
PRG3	10394	broad.mit.edu	37	11	57146261	57146261	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57146261C>T	uc001njv.2	-	3	510	c.400G>A	c.(400-402)Ggc>Agc	p.G134S		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	Homo sapiens proteoglycan 3 (PRG3), mRNA.	134	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	p.G133*(1)|p.G134G(1)		large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						ACAAGGTTGCCTCCGTAGCAT	0.488000														230			20		0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35010173	35010173	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35010173C>T	uc003jjf.3	-	11	1513	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	AGXT2_uc003jje.1_Missense_Mutation_p.E77K|AGXT2_uc011com.2_Missense_Mutation_p.E349K	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	424					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ATTTCAAATTCATCCCGCAGC	0.438000														100			49		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073721	9073721	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9073721C>T	uc002mkp.3	-	2	13929	c.13725G>A	c.(13723-13725)ggG>ggA	p.G4575G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4577	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						CAAGAGCGTCCCCCATGCTGG	0.532000														45			15		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17482038	17482038	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17482038G>A	uc001mnc.3	-	5	1134	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P	ABCC8_uc010rcy.1_Silent_p.P335P	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	336	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGCCTACCTTGGGCTGGAAGA	0.582000														109			42		0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996538	143996538	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:143996538C>T	uc003yxk.1	-	2	522	c.519G>A	c.(517-519)aaG>aaA	p.K173K		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	173			K -> R (in dbSNP:rs4539).		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			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)	GCACCTTCTTCTTCAGGGCCT	0.627000									Familial Hyperaldosteronism type I					19			3		0	0	1	0	0
CASP10	843	broad.mit.edu	37	2	202060586	202060586	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:202060586C>T	uc002uxj.1	+	4	1017	c.599C>T	c.(598-600)cCt>cTt	p.P200L	CASP10_uc002uxi.1_Missense_Mutation_p.P200L|CASP10_uc010zhn.1_Non-coding_Transcript|CASP10_uc010ftb.2_Missense_Mutation_p.P200L|CASP10_uc010fta.1_Missense_Mutation_p.P200L|CASP10_uc002uxk.1_Missense_Mutation_p.P200L|CASP10_uc002uxl.2_Missense_Mutation_p.P200L|CASP10_uc002uxm.2_Missense_Mutation_p.P200L	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	200					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTGACACCTCCTGTAGACAAG	0.443000														166			72		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288831	107288831	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107288831G>A	uc011lvn.2	-	0	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGTAGAGGATGAACATATAGG	0.408000														109			21		0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100190865	100190865	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:100190865C>T	uc004axj.3	+	1	343	c.118C>T	c.(118-120)Ccc>Tcc	p.P40S	TDRD7_uc011lux.2_Intron	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	40	Lotus/OST-HTH 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AGACTGGATCCCCTTCAAACA	0.483000														61			17		0	0	1	0	0
AX747550	0	broad.mit.edu	37	5	115298196	115298196	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:115298196G>A	uc003krn.1	-	0	785	c.121C>T	c.(121-123)Cct>Tct	p.P41S	AQPEP_uc003kro.3_5'UTR|AQPEP_uc003krp.3_Non-coding_Transcript					Homo sapiens cDNA FLJ35126 fis, clone PLACE6008285.																		CTTCCAGGAGGAAGAGGCACG	0.632000														9			3		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28378638	28378638	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:28378638C>T	uc001iua.1	-	13	1489	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.R362Q|MPP7_uc009xla.2_Missense_Mutation_p.R362Q|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	362					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	p.R361Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						ATTAGTTTGTCGCCGATACGG	0.388000														215			73		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300136	18300136	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:18300136G>A	uc002zng.4	-	25	5644	c.5291C>T	c.(5290-5292)cCc>cTc	p.P1764L	MICAL3_uc011agl.2_Missense_Mutation_p.P1680L|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1764						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCCGCTGGAGGGGGTGCTGGG	0.652000														21			7		0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627428	43627428	+	Missense_Mutation	SNP	G	A	A	rs11261835	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:43627428G>A	uc011lrb.2	-	3	1288	c.1259C>T	c.(1258-1260)cCc>cTc	p.P420L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	420						integral to membrane		p.P420L(2)		breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						GTGCAGAGAGGGGAGGCCCCA	0.498000														183			10		0	0	1	0	0
TFPI	7035	broad.mit.edu	37	2	188332533	188332533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:188332533C>T	uc002upy.3	-	6	1050	c.755G>A	c.(754-756)gGa>gAa	p.G252E		NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	252	BPTI/Kunitz inhibitor 3.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	GTTTTCATTTCCCCCACATCC	0.393000														118			41		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543236	28543236	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28543236C>T	uc003nlo.3	-	2	1864	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	416	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGTGCAACTTCCGTAGGCCTT	0.388000														62			21		0	0	1	0	0
T-Cell_Receptor_V-alpha_region	0	broad.mit.edu	37	14	22409569	22409569	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22409569G>A	uc021rpl.1	+	1	102	c.59G>A	c.(58-60)gGa>gAa	p.G20E	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc001wck.3_Missense_Mutation_p.G20E					SubName: Full=V-alpha 22; Flags: Precursor; Fragment;																		AGAACCCGTGGAAATTCAGTG	0.448000														9			4		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48119606	48119606	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:48119606G>A	uc002efc.1	-	26	4072	c.3726C>T	c.(3724-3726)ctC>ctT	p.L1242L	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	1242	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATTTTTCTGGGAGTTTCATTA	0.408000														129			28		0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8073809	8073809	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:8073809G>T	uc001aoz.3	-	3	1099	c.850C>A	c.(850-852)Ccc>Acc	p.P284T	ERRFI1_uc001apa.1_Missense_Mutation_p.P209T	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.	284					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		ACTCTGGGGGGAACCTCAGGT	0.483000														106			49		2.81731e-22	2.83369e-22	1	1	0
TCHH	7062	broad.mit.edu	37	1	152080427	152080427	+	Missense_Mutation	SNP	G	A	A	rs71585886		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152080427G>A	uc009wne.1	-	2	5538	c.5266C>T	c.(5266-5268)Cgt>Tgt	p.R1756C	TCHH_uc001ezp.2_Missense_Mutation_p.R1756C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1756	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTTCCGGACGGAGCTGCTCT	0.592000														118			16		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031795	79031795	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:79031795G>A	uc003kgc.3	+	1	7279	c.7207G>A	c.(7207-7209)Gaa>Aaa	p.E2403K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2403						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TATCACAAAGGAATCAGAGAA	0.348000														48			16		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50756563	50756563	+	Silent	SNP	G	A	A	rs75934273		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:50756563G>A	uc002egm.1	+	7	2850	c.2745G>A	c.(2743-2745)ggG>ggA	p.G915G	NOD2_uc010cbl.1_Silent_p.G665G|NOD2_uc010cbm.1_Silent_p.G665G|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_Non-coding_Transcript|NOD2_uc010cbq.1_Silent_p.G53G|NOD2_uc010cbr.1_Non-coding_Transcript|NOD2_uc010vgq.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	915					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GTGACGAGGGGGCCCAGGCCC	0.517000														349			164		0	0	1	0	0
GATA6	2627	broad.mit.edu	37	18	19751212	19751212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:19751212C>T	uc002ktt.1	+	1	372	c.107C>T	c.(106-108)cCt>cTt	p.P36L	GATA6_uc002ktu.1_Missense_Mutation_p.P36L	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	36					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			TCCACGCCGCCTTCCCCCATC	0.736000														23			15		0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59962333	59962333	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:59962333G>A	uc002izn.3	-	15	2118	c.2042C>T	c.(2041-2043)tCt>tTt	p.S681F	INTS2_uc002izm.3_Missense_Mutation_p.S673F	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	681					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CATTAAAGAAGAAGAATATGA	0.353000														18			7		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934525	30934525	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:30934525C>T	uc002nsu.1	+	1	194	c.56C>T	c.(55-57)cCc>cTc	p.P19L	ZNF536_uc010edd.1_Missense_Mutation_p.P19L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAAGCTGAGCCCCACCTGAGT	0.622000														122			52		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8146261	8146261	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8146261C>T	uc002mjf.3	-	56	7334	c.7317G>A	c.(7315-7317)gaG>gaA	p.E2439E	FBN3_uc002mje.3_Silent_p.E278E	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2439	EGF-like 39; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCCTGCCATCCTCCTCCAGCA	0.582000														29			11		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95790940	95790940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95790940G>A	uc001kjk.3	+	1	771	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	PLCE1_uc010qnx.2_Missense_Mutation_p.R46Q	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	46					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACTGTCAGACGAAGTGGGGAG	0.433000														97			34		0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053475	11053475	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:11053475C>T	uc002rax.3	+	0	1413	c.923C>T	c.(922-924)tCg>tTg	p.S308L		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	308						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CGCCACTCCTCGGGCCTGCAG	0.637000														23			6		0	0	1	0	0
SLC27A4	10999	broad.mit.edu	37	9	131107735	131107735	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131107735C>T	uc004but.3	+	2	748	c.463C>T	c.(463-465)Ctc>Ttc	p.L155F	SLC27A4_uc004buu.3_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	155					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GGAGGCAGCCCTCATCAACAC	0.647000														18			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594940	179594940	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179594940C>T	uc021vsy.1	-	58	14680	c.14455G>A	c.(14455-14457)Gat>Aat	p.D4819N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1480N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5746	Ig-like 28.						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)			GAGGTGTCATCCTTCCAAACT	0.468000														25			18		0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919888	142919888	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142919888G>A	uc011ksx.2	+	0	717	c.717G>A	c.(715-717)atG>atA	p.M239I		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	239					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					ACCCCAGCATGAAGGCTCACA	0.498000														141			45		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65245923	65245923	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:65245923G>A	uc001xht.3	-	20	4566	c.4515C>T	c.(4513-4515)gaC>gaT	p.D1505D	SPTB_uc001xhr.3_Silent_p.D1505D|SPTB_uc001xhs.3_Silent_p.D1505D|SPTB_uc001xhu.3_Silent_p.D1505D|SPTB_uc010aqi.3_Silent_p.D166D	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1505					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TAGTGCCATAGTCGGCTGACT	0.582000														32			11		0	0	1	0	0
REEP3	221035	broad.mit.edu	37	10	65379551	65379552	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:65379551_65379552CC>TT	uc001jmt.3	+	6	885_886	c.702_703CC>TT	c.(700-705)ggccgc>ggTTgc	p.R235C		NM_001001330	NP_001001330	Q6NUK4	REEP3_HUMAN	Homo sapiens receptor accessory protein 3 (REEP3), mRNA.	235						integral to membrane		p.R235R(1)		endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCACCAAAGGCCGCAAAGAGGT	0.401000														13			4		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55220936	55220936	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55220936G>A	uc002qgs.1	+	0		c.1336G>A			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		TTTGATTGAGGAAGGAGAAAA	0.572000														21			7		0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95847020	95847020	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:95847020C>T	uc002suf.3	+	4	909	c.447C>T	c.(445-447)tcC>tcT	p.S149S	ZNF2_uc002sug.3_Silent_p.S107S|ZNF2_uc010yue.2_Silent_p.S111S|ZNF2_uc010fhs.3_Silent_p.S69S	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		GTAAGAAATCCCTCTCCCGGG	0.522000														78			26		0	0	1	0	0
IGFBP2	3485	broad.mit.edu	37	2	217525496	217525496	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:217525496C>T	uc021vwn.1	+	1	779	c.659C>T	c.(658-660)cCa>cTa	p.P220L	IGFBP2_uc010zju.2_Missense_Mutation_p.P220L	NM_000597	NP_000588	P18065	IBP2_HUMAN	Homo sapiens insulin-like growth factor binding protein 2, 36kDa (IGFBP2), mRNA.	220					positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		AAGCTGCGACCACCCCCTGCC	0.627000														10			5		0	0	1	0	0
CHAF1B	8208	broad.mit.edu	37	21	37788600	37788600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:37788600C>T	uc002yvj.3	+	13	1754	c.1616C>T	c.(1615-1617)cCc>cTc	p.P539L		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	Homo sapiens chromatin assembly factor 1, subunit B (p60) (CHAF1B), mRNA.	539					DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CAGGGCAGTCCCCCAGAGCTA	0.517000														30			10		0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131744851	131744851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131744851C>T	uc004bws.1	+	15	1562	c.1540C>T	c.(1540-1542)Cct>Tct	p.P514S	NUP188_uc004bwu.3_5'Flank	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	514					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCTTCGCATACCTCAAGGCAC	0.428000														80			26		0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48419014	48419014	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:48419014C>T	uc011mmb.1	+	5	1816	c.1730C>T	c.(1729-1731)cCc>cTc	p.P577L	TBC1D25_uc004dka.1_Missense_Mutation_p.P573L|TBC1D25_uc011mly.1_Missense_Mutation_p.P515L|TBC1D25_uc004dkb.1_Missense_Mutation_p.P319L|TBC1D25_uc011mlz.1_Missense_Mutation_p.P319L|TBC1D25_uc011mma.1_Missense_Mutation_p.P319L|TBC1D25_uc004dkc.1_Missense_Mutation_p.P319L|TBC1D25_uc011mmd.1_Missense_Mutation_p.P319L|TBC1D25_uc011mmc.1_Missense_Mutation_p.P319L	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	573						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GAGGCCTCTCCCACTGGTGAT	0.577000														53			41		0	0	1	0	0
ZNF774	342132	broad.mit.edu	37	15	90897947	90897947	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90897947C>T	uc002bpk.4	+	1	241	c.55C>T	c.(55-57)Cct>Tct	p.P19S		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	Homo sapiens zinc finger protein 774 (ZNF774), mRNA.	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTTAGAGAATCCTCTCCAGGA	0.438000														26			12		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16351295	16351295	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16351295C>T	uc001axu.3	+	3	347	c.267C>T	c.(265-267)caC>caT	p.H89H	CLCNKA_uc001axt.3_Intron|CLCNKA_uc010obw.2_Intron|CLCNKA_uc001axv.3_Silent_p.H89H	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	89					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)	GGGACAGCCACCTGCTCCGGT	0.622000														52			21		0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962504	165962504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:165962504C>T	uc003iqy.1	+	2	1450	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	TRIM60_uc010iqx.1_Missense_Mutation_p.S427F|TRIM60_uc021xty.1_Missense_Mutation_p.S427F	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	427	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GGTGATCTTTCCTTTTATAAT	0.378000														81			36		0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	629880	629880	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:629880G>A	uc003mtd.3	-	3	511	c.377C>T	c.(376-378)cCc>cTc	p.P126L	EXOC2_uc003mte.3_Missense_Mutation_p.P126L|EXOC2_uc011dho.2_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	126					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TAAGGACAAGGGCGGAATTCC	0.408000														91			26		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541538	55541538	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55541538G>A	uc010ril.2	+	0	625	c.625G>A	c.(625-627)Gag>Aag	p.E209K		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CATATTCAATGAGGTGAGCAG	0.393000														143			31		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60758262	60758262	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:60758262G>A	uc002jad.3	+	16	2977	c.2575G>A	c.(2575-2577)Gag>Aag	p.E859K	MRC2_uc002jae.3_5'UTR|MRC2_uc002jaf.3_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	859	C-type lectin 5.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GTTCCAGGCCGAGCTGACCTC	0.642000														28			12		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520981	131520981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:131520981G>A	uc021voy.1	+	0	1336	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	FAM123C_uc002trw.2_Missense_Mutation_p.E446K|FAM123C_uc010fmv.2_Missense_Mutation_p.E446K|FAM123C_uc010fms.1_Missense_Mutation_p.E446K|FAM123C_uc010fmt.1_Missense_Mutation_p.E446K|FAM123C_uc010fmu.1_Missense_Mutation_p.E446K	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	446										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GTGCGTGTCTGAGAGTCTGTC	0.662000														48			21		0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10397994	10397994	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10397994C>T	uc002mnr.2	+	0	352	c.306C>T	c.(304-306)ctC>ctT	p.L102L	ICAM4_uc002mns.2_Silent_p.L102L|ICAM4_uc002mnt.2_Silent_p.L102L|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	102	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			ACCAGCTGCTCGACGTGAGGG	0.662000														19			11		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94204131	94204131	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:94204131C>T	uc003kkx.2	-	16	2343	c.2343G>A	c.(2341-2343)atG>atA	p.M781I	MCTP1_uc003kkv.2_Missense_Mutation_p.M560I|MCTP1_uc003kkw.2_Missense_Mutation_p.M514I|MCTP1_uc003kkz.2_Missense_Mutation_p.M442I|MCTP1_uc003kku.2_Missense_Mutation_p.M297I	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	781					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CACAACGTTTCATTCTGATAA	0.358000														30			8		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2820382	2820382	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2820382C>T	uc002crk.3	+	12	8600	c.8051C>T	c.(8050-8052)tCc>tTc	p.S2684F		NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2684	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						CCAATAGACTCCCTCAGGGAC	0.652000														13			3		0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2610032	2610032	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:2610032C>T	uc001lwn.3	+	9	1449	c.1341C>T	c.(1339-1341)ccC>ccT	p.P447P	KCNQ1_uc009ydp.1_Silent_p.P231P|KCNQ1_uc001lwo.3_Silent_p.P320P	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	447					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CGTGCGACCCCCCAGAAGAGC	0.552000														31			9		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55142285	55142285	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55142285G>A	uc003pcl.3	+	4	1185	c.870G>A	c.(868-870)gcG>gcA	p.A290A	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	290					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)			GCGCTGTGGCGGCTGAAATAA	0.498000														51			16		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2967436	2967436	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:2967436G>A	uc003bpc.3	+	12	1670	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	CNTN4_uc003bpb.1_Missense_Mutation_p.G116E|CNTN4_uc021wsg.1_Missense_Mutation_p.G444E|CNTN4_uc003bpd.1_Missense_Mutation_p.G444E|CNTN4_uc003bpe.3_Missense_Mutation_p.G116E|CNTN4_uc003bpf.3_Missense_Mutation_p.G116E	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	444	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.P444S(1)|p.P444T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGGAAGAAAGGAAGGGATATA	0.338000														113			27		0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120809247	120809247	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:120809247G>A	uc003you.3	-	7	1344	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	358					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCTAGATATGAAACAACCAA	0.383000														63			21		0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159171	152159171	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:152159171G>A	uc022chn.1	-	0	972	c.972C>T	c.(970-972)ctC>ctT	p.L324L	PNMA5_uc010ntx.3_Silent_p.L324L|PNMA5_uc010ntw.3_Silent_p.L324L|PNMA5_uc004fgy.4_Silent_p.L324L|PNMA5_uc022chm.1_Silent_p.L324L	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	324					apoptosis			p.L324L(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CATCTCGAATGAGCTTCATTA	0.562000														26			23		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52250020	52250020	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52250020G>A	uc021uyn.1	-	2	374	c.228C>T	c.(226-228)tcC>tcT	p.S76S	FPR1_uc002pxq.3_Silent_p.S76S|FPR1_uc021uyo.1_Silent_p.S76S	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	76					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)	ATGGCAAAGTGGAGGTGAAAC	0.522000														60			34		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71218869	71218869	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71218869C>T	uc002ezr.3	-	2	311	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Missense_Mutation_p.E54K|HYDIN_uc010vmc.2_Missense_Mutation_p.E71K|HYDIN_uc010vmd.2_Missense_Mutation_p.E81K|HYDIN_uc002ezw.4_Missense_Mutation_p.E71K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	54								p.E54K(3)		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)				AGGGACATTTCCTTCAGGAAC	0.408000														70			20		0	0	1	0	0
C19orf29	58509	broad.mit.edu	37	19	3623996	3623996	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3623996G>A	uc002lyh.3	-	1	385	c.332C>T	c.(331-333)cCt>cTt	p.P111L	C19orf29_uc010dtn.3_5'Flank|C19orf29_uc002lyi.4_Missense_Mutation_p.P111L|C19orf29_uc010dto.3_Non-coding_Transcript	NM_001080543	NP_067054	Q8WUQ7	CS029_HUMAN	Homo sapiens chromosome 19 open reading frame 29 (C19orf29), transcript variant 1, mRNA.	111						catalytic step 2 spliceosome	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(2)	15		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGGAGCTAGGAGACCACGA	0.701000														15			6		0	0	1	0	0
NMNAT2	23057	broad.mit.edu	37	1	183230174	183230174	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:183230174T>C	uc001gqc.2	-	9	1016	c.784A>G	c.(784-786)Aac>Gac	p.N262D	NMNAT2_uc009wye.2_Non-coding_Transcript|NMNAT2_uc001gqb.2_Missense_Mutation_p.N257D	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 2 (NMNAT2), transcript variant 1, mRNA.	262					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						atgggatggttgatgtcatcc	0.458000														94			41		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40947690	40947690	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:40947690G>A	uc002ibj.3	+	15	3138	c.3070G>A	c.(3070-3072)Gaa>Aaa	p.E1024K	WNK4_uc010wgx.2_Missense_Mutation_p.E688K|CCDC56_uc010wgz.1_3'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	1024					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCATCCAAGGAACCGGCTGA	0.547000														29			29		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10108085	10108085	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10108085G>A	uc002mmq.1	-	10	1311	c.1225C>T	c.(1225-1227)Ccc>Tcc	p.P409S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	409	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.P409P(1)		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)			GGGGGGCCGGGAGGGCCTGAG	0.602000														7			9		0	0	1	0	0
SLC25A42	284439	broad.mit.edu	37	19	19217149	19217149	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19217149C>T	uc002nlf.2	+	5	608	c.452C>T	c.(451-453)cCc>cTc	p.P151L	SLC25A42_uc010xqn.1_Missense_Mutation_p.P203L	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.	151					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CTGACCTACCCCCTGGACCTG	0.657000														53			19		0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124404283	124404283	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:124404283G>A	uc003vli.3	-	0	1399	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	250						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGGTAGAAGGGGTTCTTCAGT	0.622000														47			16		0	0	1	0	0
PRSS8	5652	broad.mit.edu	37	16	31144657	31144657	+	Silent	SNP	G	A	A	rs143732587	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31144657G>A	uc002ebc.4	-	2	488	c.156C>T	c.(154-156)gtC>gtT	p.V52V	PRSS8_uc010vfe.2_Silent_p.V52V	NM_002773	NP_002764	Q16651	PRSS8_HUMAN	Homo sapiens protease, serine, 8 (PRSS8), mRNA.	52	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						ACTGACCGGCGACTGCACTGC	0.637000														48			6		0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55705875	55705875	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:55705875C>T	uc021tio.1	+	2	483	c.432C>T	c.(430-432)atC>atT	p.I144I	SLC6A2_uc002eif.3_Silent_p.I144I|SLC6A2_uc002eig.3_Silent_p.I144I|SLC6A2_uc002eii.3_Silent_p.I39I	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	144					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCATCCTGATCGCCCTGTACG	0.607000														37			15		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77378026	77378026	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77378026C>T	uc004ajl.1	-	25	3799	c.3561G>A	c.(3559-3561)ctG>ctA	p.L1187L	TRPM6_uc004ajk.1_Silent_p.L1182L|TRPM6_uc022bib.1_Silent_p.L1182L|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.L143L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1187					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCATTTCTTTCAGCTGGAAGT	0.463000														45			9		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111430622	111430622	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:111430622G>A	uc003vfy.3	-	31	3583	c.3314C>T	c.(3313-3315)cCc>cTc	p.P1105L	DOCK4_uc011kmm.2_5'Flank|DOCK4_uc003vfw.3_Missense_Mutation_p.P510L|DOCK4_uc003vfx.3_Missense_Mutation_p.P1069L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1069	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTCTAGGAAGGGGCCAATCAG	0.403000														37			4		0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67431935	67431935	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67431935C>T	uc001omr.3	-	7	1244	c.805G>A	c.(805-807)Gag>Aag	p.E269K	ALDH3B2_uc001oms.3_Missense_Mutation_p.E269K|ALDH3B2_uc009ysa.1_Missense_Mutation_p.E269K	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	269					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	p.D268D(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TTGATGGCCTCGTCCACGCTC	0.652000														89			46		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52812419	52812419	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52812419C>T	uc003dfs.3	+	2	232	c.202C>T	c.(202-204)Cac>Tac	p.H68Y	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_5'Flank|ITIH1_uc021wzg.1_5'Flank|ITIH1_uc021wzh.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	68	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TCGCTTCGCCCACTATGTTGT	0.522000														98			48		0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49776046	49776046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:49776046C>T	uc001vcm.3	+	23	3403	c.3098C>T	c.(3097-3099)cCc>cTc	p.P1033L	FNDC3A_uc001vcn.3_Missense_Mutation_p.P1033L|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Missense_Mutation_p.P977L	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	1033	Fibronectin type-III 8.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GGGGAAGGTCCCCTCTCCCAA	0.353000														83			27		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90433300	90433300	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:90433300G>A	uc003pnn.1	-	38	5825	c.5709C>T	c.(5707-5709)ttC>ttT	p.F1903F		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1903					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TACTGGCAATGAACTCCATGT	0.333000														30			12		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43075811	43075811	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43075811G>A	uc001zqo.2	-	10	1442	c.1003C>T	c.(1003-1005)Cct>Tct	p.P335S	TTBK2_uc010bcy.2_Missense_Mutation_p.P266S|TTBK2_uc001zqp.3_Missense_Mutation_p.P335S	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	335					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AAGTCTCCAGGGATGGGAGTA	0.373000														191			83		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72063173	72063173	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:72063173G>A	uc021rkj.1	-	6	2107	c.1684C>T	c.(1684-1686)Cct>Tct	p.P562S	DACH1_uc021rkk.1_Missense_Mutation_p.P414S|DACH1_uc021rkl.1_Missense_Mutation_p.P360S	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	612					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGTCCATCAGGAAACAGAAAA	0.463000														165			47		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28877480	28877480	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:28877480C>T	uc001usb.3	-	29	4126	c.3841G>A	c.(3841-3843)Gag>Aag	p.E1281K	FLT1_uc010aap.2_Missense_Mutation_p.E286K|FLT1_uc010aaq.2_Missense_Mutation_p.E406K|FLT1_uc001usa.3_Missense_Mutation_p.E499K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1281					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGCCCCGACTCCTTACTTTTA	0.443000														39			18		0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20376776	20376776	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20376776G>A	uc002dhc.1	-	8	1426	c.1203C>T	c.(1201-1203)gtC>gtT	p.V401V		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	401	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.V401I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTTTGTCAAAGACGACTACGT	0.438000														140			16		0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76372279	76372279	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:76372279G>A	uc001oxq.4	-	2	601	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	LRRC32_uc001oxr.4_Silent_p.L120L|LRRC32_uc010rsf.2_Silent_p.L120L	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	120						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGGGGGCCCAGGCCACCAGCA	0.692000														41			16		0	0	1	0	0
ACADSB	36	broad.mit.edu	37	10	124793927	124793927	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124793927C>T	uc001lhb.3	+	1	215	c.98C>T	c.(97-99)tCa>tTa	p.S33L	ACADSB_uc010qub.2_5'UTR	NM_001609	NP_001600	P45954	ACDSB_HUMAN	Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	33					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CCTCATGTCTCAAAATCTTCC	0.363000														103			8		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54849620	54849621	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:54849620_54849621CC>TT	uc002rxu.3	+	8	1309_1310	c.1060_1061CC>TT	c.(1060-1062)ccc>TTc	p.P354F	SPTBN1_uc002rxv.1_Missense_Mutation_p.P354F|SPTBN1_uc002rxx.3_Missense_Mutation_p.P341F	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	354					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGAGAAACCACCCAAGTAAGAT	0.411000														110			8		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530609	140530609	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140530609C>T	uc003lir.3	+	0	771	c.771C>T	c.(769-771)ggC>ggT	p.G257G		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	257	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCCCTCGGCTCTCTGGTTA	0.507000														43			15		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71095058	71095058	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:71095058C>T	uc001swi.2	-	6	1467	c.1053G>A	c.(1051-1053)ggG>ggA	p.G351G	PTPRR_uc001swh.2_Silent_p.G106G|PTPRR_uc009zrs.3_Silent_p.G145G|PTPRR_uc010stq.2_Silent_p.G239G|PTPRR_uc010str.1_Silent_p.G200G	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	351					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GTTCAATGTTCCCCAAGCTAC	0.438000														80			20		0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35242163	35242163	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:35242163C>T	uc011kas.2	-	7	1703	c.1223G>A	c.(1222-1224)gGg>gAg	p.G408E		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	408						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GGGGCCACTCCCTTGCATGGA	0.552000														29			7		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956201	18956201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:18956201C>T	uc001mpg.3	-	0	349	c.131G>A	c.(130-132)gGa>gAa	p.G44E		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	44					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AACTGCGTTTCCTGTCAGCCC	0.567000														160			67		0	0	1	0	0
DNAJA3	9093	broad.mit.edu	37	16	4491432	4491432	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:4491432C>T	uc002cwk.3	+	3	563	c.486C>T	c.(484-486)ttC>ttT	p.F162F	DNAJA3_uc002cwl.3_Silent_p.F162F|DNAJA3_uc010uxk.2_Intron	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3 (DNAJA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	162					activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|NF-kappaB binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						CTGCAGGCTTCGATCCTGGGG	0.577000														51			5		0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15262451	15262451	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:15262451C>T	uc001rcs.3	-	4	333	c.193_splice	c.e4-1	p.E65_splice	RERG_uc001rct.3_Splice_Site_p.E65_splice|RERG_uc010shu.2_Splice_Site_p.E46_splice	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	65					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						ATGGTATCTTCCTGTTGGCAA	0.443000														299			78		0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31498855	31498855	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31498855C>T	uc002ecf.4	+	6	679	c.660C>T	c.(658-660)ttC>ttT	p.F220F	SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	220					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CGGCAGCCTTCCACGAGGTGG	0.667000														87			28		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45461956	45461956	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:45461956C>T	uc003jok.3	-	2	1028	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	335						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACAACCATTTCATTTAAAGAC	0.398000														33			15		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879171	3879171	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:3879171C>T	uc002kmf.3	-	3	1425	c.898G>A	c.(898-900)Gac>Aac	p.D300N	DLGAP1_uc010wyz.2_Missense_Mutation_p.D300N|DLGAP1_uc002kmk.2_Missense_Mutation_p.D300N|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	300					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ATGGCCTGGTCCATGTTCACC	0.592000														54			15		0	0	1	0	0
PFKFB2	5208	broad.mit.edu	37	1	207228079	207228079	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207228079C>T	uc001hfg.3	+	1	126	c.17C>T	c.(16-18)tCc>tTc	p.S6F	PFKFB2_uc010psc.2_5'UTR|YOD1_uc001hff.1_5'Flank|PFKFB2_uc001hfh.3_Missense_Mutation_p.S6F|PFKFB2_uc009xcc.3_5'UTR	NM_006212	NP_006203	O60825	F262_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 (PFKFB2), transcript variant 1, mRNA.	6	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GGGGCATCTTCCTCAGAACAG	0.423000														20			13		0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42289183	42289183	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:42289183C>T	uc003bbi.3	+	11	2440	c.2271C>T	c.(2269-2271)tcC>tcT	p.S757S	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	757					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TTCCTGACTCCCTGCGCTGGC	0.602000														100			27		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141794427	141794427	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141794427G>A	uc003vwy.3	+	38	4680	c.4626G>A	c.(4624-4626)atG>atA	p.M1542I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1542	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)	CAGGCATGATGGAGTTCAGCC	0.552000														69			27		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998538	27998538	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:27998538G>A	uc004dbx.1	-	0	1029	c.914C>T	c.(913-915)tCa>tTa	p.S305L		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	305										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ATCTTCACCTGAAGTGAGGAA	0.483000														25			21		0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32954042	32954042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:32954042C>T	uc002hif.3	+	2	1022	c.694C>T	c.(694-696)Ccc>Tcc	p.P232S		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	232						integral to membrane		p.S231W(1)|p.P232L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CTCCTCCTCGCCCTCCAGCCC	0.597000														49			13		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22134064	22134064	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22134064C>T	uc010tmd.2	+	0	768	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CATGTATCTTCATCTATACTC	0.507000														46			20		0	0	1	0	0
FAM48B2	170067	broad.mit.edu	37	X	24329698	24329698	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:24329698C>T	uc011mjw.2	-	0	1735	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA.	579										breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1)	23						ACTGGGCCCTCCACGTTGGTG	0.662000														3			7		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832614	61832614	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61832614C>T	uc001jky.3	-	36	8363	c.8025G>A	c.(8023-8025)aaG>aaA	p.K2675K	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.	2675					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						AGAGAACCATCTTCTCTGGGC	0.557000														79			25		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98764462	98764462	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98764462G>A	uc001kmw.2	-	32	3950	c.3698C>T	c.(3697-3699)tCt>tTt	p.S1233F		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1233	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GTAGATGGCAGAGCTGGGGTA	0.597000														56			17		0	0	1	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411228	32411228	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32411228C>T	uc003obh.3	+	2	704	c.595C>T	c.(595-597)Ctt>Ttt	p.L199F	HLA-DRA_uc003obi.3_Missense_Mutation_p.L174F	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	199	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GGATGAGCCTCTTCTCAAGCA	0.493000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of					90			21		0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74328067	74328067	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74328067C>T	uc002skb.4	+	8	3747	c.3747C>T	c.(3745-3747)ccC>ccT	p.P1249P		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1249							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCCCTCCCCCTTTGCCCAGA	0.622000														9			5		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402193	89402193	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89402193C>T	uc010upo.1	+	11	6751	c.6377C>T	c.(6376-6378)tCc>tTc	p.S2126F	ACAN_uc010upp.1_Missense_Mutation_p.S2126F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2126					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)			GATTCTGGGTCCCCTGATCTG	0.552000														105			29		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38357230	38357230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:38357230C>T	uc010abx.3	-	1	476	c.241G>A	c.(241-243)Gag>Aag	p.E81K	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.E81K|TRPC4_uc001uws.3_Missense_Mutation_p.E81K|TRPC4_uc010tey.2_Missense_Mutation_p.E81K|TRPC4_uc010abw.3_Missense_Mutation_p.E81K|TRPC4_uc010aby.3_Missense_Mutation_p.E81K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	81					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		tccaagttctcattttcaatt	0.373000														71			33		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15793285	15793285	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15793285G>A	uc002nbl.3	+	5	731	c.612G>A	c.(610-612)caG>caA	p.Q204Q		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ACAGTCTACAGAAATGCATCT	0.532000														146			39		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98155765	98155766	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98155765_98155766CC>TT	uc001kml.2	-	11	1637_1638	c.1396_1397GG>AA	c.(1396-1398)gga>AAa	p.G466K	TLL2_uc009xvf.2_Missense_Mutation_p.G444K	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	466	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.G465W(1)|p.G465R(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTTCATGTCTCCCCCGCAGGTA	0.540000											OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		79			30		0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104239109	104239109	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104239109G>A	uc004bbm.3	-	1	588	c.266C>T	c.(265-267)tCa>tTa	p.S89L	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Missense_Mutation_p.S89L	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	89						integral to membrane		p.S89L(1)									AATGGGCACTGAGCCATTGGC	0.577000														24			17		0	0	1	0	0
APOA5	116519	broad.mit.edu	37	11	116661629	116661629	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:116661629G>A	uc009yzg.3	-	1	826	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Missense_Mutation_p.R106C|APOA5_uc009yzf.3_Missense_Mutation_p.R106C			Q6Q788	APOA5_HUMAN	Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.	106					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GGCTGGAGGCGAGCCTTCACC	0.642000														79			29		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134993876	134993876	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:134993876C>T	uc004ezh.3	+	17	2452	c.2285C>T	c.(2284-2286)tCt>tTt	p.S762F	SAGE1_uc010nry.1_Missense_Mutation_p.S731F|SAGE1_uc011mvv.2_Missense_Mutation_p.S386F	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	762										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GCATTGGATTCTTTCTCTCAC	0.423000														96			61		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834355	101834355	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:101834355C>T	uc003knn.3	-	0	366	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	SLCO6A1_uc003kno.3_Missense_Mutation_p.R65Q|SLCO6A1_uc003knp.3_Missense_Mutation_p.R65Q|SLCO6A1_uc003knq.3_Missense_Mutation_p.R65Q	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	65						integral to membrane|plasma membrane	transporter activity	p.R65Q(4)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTTCCTTTTTCGGAAACCGCC	0.542000														215			80		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210856647	210856647	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:210856647C>T	uc001hib.2	-	10	3116	c.2946G>A	c.(2944-2946)gaG>gaA	p.E982E	KCNH1_uc001hic.2_Silent_p.E955E	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	982					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AAATGTCTCTCTCTGATTCTG	0.463000														241			16		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123848369	123848369	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123848369C>T	uc001pzm.1	-	0	30	c.30G>A	c.(28-30)atG>atA	p.M10I		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTGTCATGGTCATCTTCTCAC	0.468000														81			44		0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139264822	139264822	+	Missense_Mutation	SNP	C	T	T	rs143263677		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139264822C>T	uc022bpp.1	-	5	1041	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	CARD9_uc004chg.3_Missense_Mutation_p.R292Q|CARD9_uc022bpo.1_Missense_Mutation_p.R292Q|CARD9_uc011mdx.1_Missense_Mutation_p.R188Q	NM_052814	NP_434701	Q9H257	CARD9_HUMAN	Homo sapiens caspase recruitment domain family, member 9 (CARD9), transcript variant 2, mRNA.	292					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CTGGTGGTCCCGCAGCGCCTG	0.682000														4			8		0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53086249	53086249	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53086249C>T	uc010ydn.2	+	4	1198	c.1135C>T	c.(1135-1137)Ctt>Ttt	p.L379F	ZNF701_uc002pzs.2_Missense_Mutation_p.L313F|ZNF701_uc021uyw.1_Missense_Mutation_p.L379F	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ACAATCAAACCTTGCACGTCA	0.388000														92			36		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40717020	40717020	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:40717020C>T	uc001rmg.4	+	37	5689	c.5568C>T	c.(5566-5568)gcC>gcT	p.A1856A	LRRK2_uc009zjw.3_Silent_p.A694A|LRRK2_uc001rmi.3_Silent_p.A689A	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1856					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTCAGATTGCCCCTGACTTGA	0.338000														69			25		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108129689	108129689	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108129689C>T	uc003dxa.1	-	31	4353	c.4296G>A	c.(4294-4296)caG>caA	p.Q1432Q		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1432						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						CCAGCTGCAGCTGGTGCCTGG	0.622000														41			17		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369377	56369377	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56369377C>T	uc002qmd.4	+	2	1040	c.618C>T	c.(616-618)tcC>tcT	p.S206S	NLRP4_uc002qmf.3_Silent_p.S131S|NLRP4_uc010etf.3_Silent_p.S37S	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	206	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACTTGATTTCCAGAGAGTGGC	0.532000														137			12		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267772	71267772	+	Silent	SNP	G	A	A	rs147891121	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:71267772G>A	uc001xmm.3	-	1	432	c.432C>T	c.(430-432)ctC>ctT	p.L144L	MAP3K9_uc001xml.3_Silent_p.L144L	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	144	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTTCCAAGGTGAGCTCCGCAA	0.438000														63			24		0	0	1	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6932137	6932137	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:6932137C>T	uc004frb.3	+	7	1051	c.404C>T	c.(403-405)cCa>cTa	p.P135L	TBL1Y_uc004frc.3_Missense_Mutation_p.P135L|TBL1Y_uc004frd.3_Missense_Mutation_p.P135L|TBL1Y_uc011nap.2_5'UTR	NM_033284	NP_599021	Q9BQ87	TBL1Y_HUMAN	Homo sapiens transducin (beta)-like 1, Y-linked (TBL1Y), transcript variant 1, mRNA.	135					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						CAAAATCCTCCAAAGAACCGA	0.547000														14			23		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58240849	58240849	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:58240849G>A	uc001vhq.1	+	2	3571	c.2679G>A	c.(2677-2679)ggG>ggA	p.G893G	PCDH17_uc010aec.1_Silent_p.G892G|PCDH17_uc001vhr.1_5'UTR	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	893					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GTGGGCACGGGGACAGTGATC	0.448000														71			15		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16199342	16199342	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16199342C>T	uc001axk.1	+	1	319	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	SPEN_uc010obp.1_5'Flank	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	39	RRM 1.				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)		CAAAATTCTTCCCAAGAGGGG	0.398000														65			27		0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323644	29323644	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29323644G>A	uc011dlo.2	-	0	411	c.329C>T	c.(328-330)tCa>tTa	p.S110L		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGACACTCTGATCCTACAAA	0.403000														68			28		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898880	37898880	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:37898880G>A	uc002hsr.3	+	2	492	c.217G>A	c.(217-219)Gag>Aag	p.E73K	GRB7_uc002hss.3_Missense_Mutation_p.E73K|GRB7_uc021twu.1_Missense_Mutation_p.E96K|GRB7_uc010cwc.3_Missense_Mutation_p.E73K|GRB7_uc002hst.3_Missense_Mutation_p.E73K	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	73					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCCCTTCCCTGAGCTCTGCAG	0.637000														96			33		0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060702	16060702	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16060702G>A	uc010xov.2	+	0	885	c.885G>A	c.(883-885)agG>agA	p.R295R		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TCAGCCTAAGGAACAAGGAGC	0.438000														104			69		0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53069372	53069372	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53069372C>T	uc001sau.1	-	8	1599	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R	KRT1_uc001sav.1_Missense_Mutation_p.G514R	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	514	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ctgccacctccacTGATGGTG	0.607000														42			17		0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156834179	156834179	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156834179G>A	uc001fqh.1	+	1	302	c.246G>A	c.(244-246)ctG>ctA	p.L82L	NTRK1_uc001fqf.1_Silent_p.L52L|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.L82L|NTRK1_uc009wsk.1_Silent_p.L82L	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	82					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)	TGCAGCATCTGGAGCTCCGTG	0.617000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				36			14		0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4306242	4306242	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4306242C>T	uc002lzy.2	+	2	312	c.159C>T	c.(157-159)tcC>tcT	p.S53S	FSD1_uc010xie.2_Silent_p.S40S|FSD1_uc010xif.2_Missense_Mutation_p.P37S	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	53					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)		AGTTCCAGTCCCTCTTCTCCC	0.587000														152			11		0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74133578	74133578	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74133578C>T	uc002jqx.3	-	2	1477	c.1122G>A	c.(1120-1122)gaG>gaA	p.E374E		NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	374					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CCAGGAAGGTCTCATCGAAGT	0.682000														3			4		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220480833	220480833	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220480833C>T	uc002vml.3	+	24	3261	c.3218C>T	c.(3217-3219)gCc>gTc	p.A1073V		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	1073					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCTGCTTGCCTGGATCCGG	0.622000														24			5		0	0	1	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36468525	36468525	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36468525C>T	uc021wdj.1	+	11	1326	c.1235C>T	c.(1234-1236)gCt>gTt	p.A412V	CTNNBL1_uc002xhh.3_Missense_Mutation_p.A225V|CTNNBL1_uc002xhi.3_Non-coding_Transcript|CTNNBL1_uc002xhj.3_Missense_Mutation_p.A160V	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	412					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCGATCCTGGCTTCCCTCCTG	0.493000														47			18		0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19350783	19350783	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:19350783C>T	uc003znq.3	+	18	3626	c.3546C>T	c.(3544-3546)atC>atT	p.I1182I	DENND4C_uc011lnc.2_Silent_p.I512I|DENND4C_uc011lnd.2_Silent_p.I470I|DENND4C_uc003znr.3_Silent_p.I470I|DENND4C_uc003zns.3_Silent_p.I364I|DENND4C_uc003znt.3_Silent_p.I364I	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	1182						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACACAAGTATCTCAGGGTTGG	0.433000														83			18		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6912853	6912853	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6912853C>T	uc010rau.2	-	0	879	c.879G>A	c.(877-879)aaG>aaA	p.K293K		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K293K(2)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTTCACATCCTTGTTTCTCA	0.458000														62			23		0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11150690	11150690	+	Missense_Mutation	SNP	G	A	A	rs146582265	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11150690G>A	uc001asa.3	-	5	729	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	EXOSC10_uc001asb.3_Missense_Mutation_p.R227C|EXOSC10_uc009vmy.1_Missense_Mutation_p.R227C	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	227					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TCCTCAGGACGATCCTGTGGG	0.517000														32			14		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674333	4674333	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4674333G>A	uc021qcq.1	+	0	577	c.577G>A	c.(577-579)Gat>Aat	p.D193N	OR51E1_uc001lzi.4_Missense_Mutation_p.D193N	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D192Y(2)		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)		GCTGGCCTGTGATGATATCCG	0.498000														125			73		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128477589	128477589	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128477589C>T	uc003vnz.4	+	3	1046	c.837C>T	c.(835-837)atC>atT	p.I279I	FLNC_uc003voa.4_Silent_p.I279I	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	279					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGAAAGCCATCGCCTATGGGC	0.597000														75			23		0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117504152	117504152	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:117504152C>T	uc001egv.1	+	4	1638	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	501	Ig-like C2-type 4.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTTCAATTTCCGGATCCAAAG	0.483000														91			35		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79399020	79399020	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:79399020G>A	uc003hlb.2	+	54	8343	c.7903G>A	c.(7903-7905)Gat>Aat	p.D2635N		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2630	Calx-beta 1.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTCATCAACGATGATGACGT	0.483000														17			9		0	0	1	0	0
TMEM155	132332	broad.mit.edu	37	4	122682721	122682721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:122682721G>A	uc003idx.1	-	4	743	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C		NM_152399	NP_689612	Q4W5P6	TM155_HUMAN	Homo sapiens transmembrane protein 155 (TMEM155), mRNA.	62						extracellular region				breast(1)|lung(5)	6						CCCTGCAAGCGAACCAAAAAC	0.378000														59			21		0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52714852	52714852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52714852C>T	uc001saf.2	-	0	331	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	90	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGAGGCTCTCGTTGACCGAC	0.667000														108			32		0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124206289	124206289	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:124206289G>A	uc003ypv.3	+	3	2688	c.674G>A	c.(673-675)gGa>gAa	p.G225E	FAM83A_uc003ypw.3_Missense_Mutation_p.G225E|FAM83A_uc003ypx.3_Missense_Mutation_p.G225E|FAM83A_uc003ypy.3_Missense_Mutation_p.G169E|FAM83A_uc003ypz.3_Missense_Mutation_p.G225E	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	225										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTGTGGAAGGAGAGATATAC	0.463000														48			7		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690654	33690654	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:33690654C>T	uc002hjg.4	-	1	420	c.173G>A	c.(172-174)gGa>gAa	p.G58E	SLFN11_uc010ctr.3_Missense_Mutation_p.G58E|SLFN11_uc010ctp.3_Missense_Mutation_p.G58E|SLFN11_uc010ctq.3_Missense_Mutation_p.G58E|SLFN11_uc002hjh.4_Missense_Mutation_p.G58E	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	58						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AATCACTCCTCCTCCTGAGTT	0.448000														116			60		0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20045433	20045433	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:20045433A>G	uc002non.3	+	3	1845	c.1669A>G	c.(1669-1671)Ata>Gta	p.I557V		NM_031218	NP_112495	P35789	ZNF93_HUMAN	Homo sapiens zinc finger protein 93 (ZNF93), mRNA.	557						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TACACATAAGATACTTCATAC	0.358000														46			23		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318309	48318309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48318309G>A	uc003toq.2	+	17	7542	c.7518G>A	c.(7516-7518)ttG>ttA	p.L2506L	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2506					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCATGCTGTTGAATGACAGTG	0.428000														243			27		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585473	82585473	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82585473C>T	uc003uhx.2	-	4	5085	c.4796G>A	c.(4795-4797)gGa>gAa	p.G1599E	PCLO_uc003uhv.2_Missense_Mutation_p.G1599E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1530					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						TTTGCCTTTTCCCTTTGTTTC	0.428000														172			51		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33585816	33585816	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:33585816G>A	uc021vft.1	+	26	4176	c.4153G>A	c.(4153-4155)Gaa>Aaa	p.E1385K	LTBP1_uc002rou.3_Missense_Mutation_p.E1059K|LTBP1_uc002rov.3_Missense_Mutation_p.E1006K|LTBP1_uc010ymz.2_Missense_Mutation_p.E1017K|LTBP1_uc010yna.2_Missense_Mutation_p.E964K|LTBP1_uc010ynb.2_Missense_Mutation_p.E283K	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1385	TB 3.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGATAACTGCGAAATCTTCCC	0.498000														74			5		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126771152	126771152	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:126771152C>T	uc003kuh.4	+	16	2437	c.2075C>T	c.(2074-2076)cCc>cTc	p.P692L	MEGF10_uc003kui.4_Missense_Mutation_p.P692L	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	692	EGF-like 12.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CAGTGTTACCCCGGTTGGATT	0.418000														52			8		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45430210	45430210	+	Missense_Mutation	SNP	G	A	A	rs138913762		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45430210G>A	uc001zus.1	+	10	1457	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	DUOX1_uc001zut.1_Missense_Mutation_p.E371K|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	371	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGGAGCCGTGAGGTCCGAGC	0.537000														62			14		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1272354	1272354	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1272354G>A	uc003jcb.1	-	6	2386	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F	TERT_uc003jbz.1_Intron|TERT_uc003jcc.1_Silent_p.F776F|TERT_uc003jca.1_Silent_p.F764F|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	776	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGTGAGCCACGAACTGTCGCA	0.657000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					16			6		0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180335746	180335746	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:180335746G>A	uc003mmp.3	+	1	444	c.210G>A	c.(208-210)ggG>ggA	p.G70G	BTNL8_uc003mmq.3_Silent_p.G70G|BTNL8_uc010jll.3_Silent_p.G70G|BTNL8_uc011dhg.2_Intron|BTNL8_uc010jlm.3_Intron|BTNL8_uc011dhh.2_5'Flank	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	70	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGGGACGGGAAGGACCAGC	0.532000														116			65		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141473	63141473	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63141473G>A	uc001nww.3	+	3	1037	c.769G>A	c.(769-771)Gac>Aac	p.D257N	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.	257					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TGCCATTCGAGACTGGCATAT	0.458000														39			8		0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156838606	156838606	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:156838606C>T	uc003ipf.1	+	9	1020	c.956C>T	c.(955-957)tCa>tTa	p.S319L		NM_005651	NP_005642	P48775	T23O_HUMAN	Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA.	319					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	GACATAGATTCACTGATGACC	0.433000														83			21		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121973125	121973125	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121973125G>A	uc003eew.4	+	1	527	c.89G>A	c.(88-90)gGg>gAg	p.G30E	CASR_uc003eev.4_Missense_Mutation_p.G30E	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	30					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)	CAAAAGAAGGGGGACATTATC	0.517000														135			44		0	0	1	0	0
METTL1	4234	broad.mit.edu	37	12	58163367	58163367	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:58163367G>A	uc010ssd.2	-	3	602	c.554C>T	c.(553-555)gCc>gTc	p.A185V	CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.3_Silent_p.C123C	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	Homo sapiens methyltransferase like 1 (METTL1), transcript variant 1, mRNA.	185						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			TAGCACGTAGGCATATTCTGC	0.527000														96			42		0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180383269	180383269	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:180383269G>A	uc002unn.4	-	4	1097	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	ZNF385B_uc002unj.3_Missense_Mutation_p.R63C|ZNF385B_uc002unl.3_Missense_Mutation_p.R62C|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Missense_Mutation_p.R89C	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	165						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GAGTTAAAGCGAAGCTGACAG	0.353000														100			41		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072763	17072763	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17072763C>T	uc002zlp.1	-	0	938	c.678G>A	c.(676-678)ggG>ggA	p.G226G		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	226					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CACAGAGCTTCCCAGATATTG	0.607000														97			12		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119036026	119036026	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:119036026C>T	uc003ibx.3	+	3	1538	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	NDST3_uc011cgf.1_Intron	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	379	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.P379P(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTGGTGGTTTCCTCACATGTG	0.443000														72			23		0	0	1	0	0
CBX8	57332	broad.mit.edu	37	17	77769234	77769234	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:77769234G>A	uc002jxd.2	-	4	488	c.370C>T	c.(370-372)Ctt>Ttt	p.L124F		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	Homo sapiens chromobox homolog 8 (CBX8), mRNA.	124					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ATGTTTCGAAGGCCCTCCCGG	0.682000														10			8		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2944669	2944669	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2944669C>T	uc022aqr.1	-	48	7814	c.7424G>A	c.(7423-7425)cGa>cAa	p.R2475Q	CSMD1_uc011kwj.2_Missense_Mutation_p.R1805Q|CSMD1_uc010lrg.3_Missense_Mutation_p.R544Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2476	Sushi 14.					integral to membrane		p.R2204P(1)|p.R2204Q(1)|p.R2475P(1)|p.R2475Q(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTGGGTTTCGTCTACAGGT	0.507000														42			12		0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150498668	150498668	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150498668C>T	uc003whx.1	+	1	108	c.30C>T	c.(28-30)gcC>gcT	p.A10A	TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176B_uc003whw.4_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	10						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGAGATGGCCCCGGAGGCCC	0.607000														47			21		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275789	130275789	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:130275789G>A	uc001qgg.4	-	8	2692	c.2334C>T	c.(2332-2334)agC>agT	p.S778S	ADAMTS8_uc001qgf.3_Silent_p.S259S	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	778	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AGGGCCGGAAGCTCTGCAGGC	0.582000														123			74		0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68597661	68597661	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:68597661C>T	uc010cff.3	+	4	1263	c.971C>T	c.(970-972)tCc>tTc	p.S324F	ZFP90_uc002ewb.3_Missense_Mutation_p.P130S|ZFP90_uc002ewc.3_Missense_Mutation_p.P130S|ZFP90_uc002ewd.3_Missense_Mutation_p.S324F|ZFP90_uc002ewe.3_Missense_Mutation_p.S324F	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	324					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CGCAGCTCCTCCCTTGTTCAA	0.502000														52			23		0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29189342	29189342	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:29189342C>T	uc001brf.1	+	2	908	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_000911	NP_000902	P41143	OPRD_HUMAN	Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA.	222					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	TCTTCGCCTTCGTGGTGCCCA	0.647000														39			21		0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434304	72434304	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:72434304C>T	uc004ebi.3	-	0	407	c.25G>A	c.(25-27)Gag>Aag	p.E9K		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	9					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCTGACAGCTCCTTGCGGTTC	0.547000														32			25		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669876	24669876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:24669876G>A	uc001iru.4	+	2	836	c.433G>A	c.(433-435)Gct>Act	p.A145T	KIAA1217_uc001irs.3_Missense_Mutation_p.A65T|KIAA1217_uc001irt.4_Missense_Mutation_p.A145T|KIAA1217_uc010qcy.2_Missense_Mutation_p.A145T|KIAA1217_uc010qcz.2_Missense_Mutation_p.A145T|KIAA1217_uc001irv.1_5'UTR|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	145			A -> G (in dbSNP:rs17506606).		embryonic skeletal system development	cytoplasm		p.A145T(2)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGAGACGTCCGCTGATTCTTT	0.542000														80			21		0	0	1	0	0
PRAMEF8	391002	broad.mit.edu	37	1	12979755	12979755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12979755C>T	uc001aup.3	+	3	1030	c.947C>T	c.(946-948)cCg>cTg	p.P316L		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	316												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTGGTGCCCGAGCATCCGT	0.572000														101			49		0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987410	61987410	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:61987410G>A	uc001vid.4	-	1	1186	c.822C>T	c.(820-822)gtC>gtT	p.V274V	PCDH20_uc010thj.2_Silent_p.V274V	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	247	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L273I(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)		AAGCACCCATGACAATTAGGT	0.527000														40			27		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130383928	130383928	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130383928G>A	uc010htl.3	+	34	6615	c.6584G>A	c.(6583-6585)cGa>cAa	p.R2195Q	COL6A6_uc003eni.4_Missense_Mutation_p.R294Q	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	2195	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGCCCCCACGACCATTCCGA	0.403000														24			11		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21631159	21631159	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:21631159C>T	uc003svc.3	+	13	2662	c.2631C>T	c.(2629-2631)atC>atT	p.I877I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	877	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACAAGTTAATCCAAGGAGATG	0.443000									Kartagener syndrome					74			35		0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142749482	142749482	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142749482C>T	uc011ksv.2	+	0	45	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCTTGGGCTTCTCCTCCTTTG	0.512000														129			49		0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127668746	127668746	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:127668746C>T	uc003vmk.3	-	1	2085	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Missense_Mutation_p.E650K	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	650						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		ATTTGAGTTTCCTGTACCTTG	0.438000														89			35		0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171520495	171520495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:171520495G>A	uc003mbo.1	-	8	1775	c.1475C>T	c.(1474-1476)aCc>aTc	p.T492I		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	492							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTCTCAGAGGTGCAGAGGCT	0.597000														147			51		0	0	1	0	0
SLC2A11	66035	broad.mit.edu	37	22	24226117	24226117	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:24226117C>T	uc011ajc.1	+	8	1552	c.1062C>T	c.(1060-1062)ccC>ccT	p.P354P	SLC2A11_uc002zyl.1_3'UTR|SLC2A11_uc002zym.4_Intron|SLC2A11_uc002zyn.4_Intron|SLC2A11_uc002zyo.4_Intron|SLC2A11_uc002zyp.4_Intron			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	356						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CCACCTCACCCCCGCCCCGTC	0.647000														81			15		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115963932	115963932	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115963932G>A	uc001lbg.1	+	8	1235	c.1082G>A	c.(1081-1083)aGa>aAa	p.R361K	TDRD1_uc001lbf.3_Missense_Mutation_p.R352K|TDRD1_uc001lbh.1_Missense_Mutation_p.R352K|TDRD1_uc001lbi.1_Missense_Mutation_p.R352K|TDRD1_uc010qsc.2_Intron|TDRD1_uc001lbj.3_Missense_Mutation_p.R70K	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	361	Tudor 1.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CCATTAAACAGAATTTACCAC	0.353000														62			18		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940459	144940459	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144940459G>A	uc003zaa.1	-	0	6976	c.6963C>T	c.(6961-6963)ctC>ctT	p.L2321L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2321						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCCTGGAAGAGGGAGATCT	0.706000														335			17		0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174868913	174868913	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:174868913G>A	uc003mcz.3	-	1	2135	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	DRD1_uc021yia.1_Missense_Mutation_p.S397F	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	397					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GTCCTCAGAGGAGCCCACAGC	0.542000														74			6		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140774727	140774727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140774727G>A	uc003lkd.2	+	0	3245	c.2347G>A	c.(2347-2349)Gag>Aag	p.E783K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.E783K|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc011daw.2_5'Flank|PCDHGC5_uc003lkf.2_5'Flank	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	793					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)			CATCAGTCAGGAGGGCTGTGA	0.473000														120			27		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566094	136566094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136566094C>T	uc002tuu.1	-	7	3834	c.3823G>A	c.(3823-3825)Gga>Aga	p.G1275R		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1275	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCCCCACTCCGTTTTCGGTG	0.502000														169			75		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130793	52130793	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52130793G>A	uc002pxe.3	-	5	1343	c.1204C>T	c.(1204-1206)Ctc>Ttc	p.L402F		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	402					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCGGAGCTGAGCCCCCCGTGG	0.632000														81			17		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102500749	102500749	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:102500749C>T	uc001yks.2	+	55	10878	c.10714C>T	c.(10714-10716)Ctt>Ttt	p.L3572F		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3572	AAA 5 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCTGATGACCTTTGCACAGA	0.502000														75			17		0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747555	68747555	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:68747555G>A	uc010rqf.2	-	0	901	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	301						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCTCCTCGCGAAGCGCCTGT	0.677000														65			35		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27190614	27190614	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:27190614G>A	uc011lno.2	+	8	1728	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E	TEK_uc003zqi.4_Missense_Mutation_p.G472E|TEK_uc011lnp.2_Missense_Mutation_p.G325E|TEK_uc003zqj.1_Missense_Mutation_p.G406E	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	472	Ig-like C2-type 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CCTTACTTTGGGGATGGACCA	0.423000														133			43		0	0	1	0	0
GZMA	3001	broad.mit.edu	37	5	54403991	54403991	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:54403991C>T	uc003jpm.3	+	3	433	c.396C>T	c.(394-396)atC>atT	p.I132I		NM_006144	NP_006135	P12544	GRAA_HUMAN	Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.	132	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ATGTGACTATCCTTCATCTAC	0.373000														43			9		0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61290624	61290624	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:61290624C>T	uc001nrv.3	-	7	1082	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	SYT7_uc009ynr.3_Missense_Mutation_p.E419K	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	344	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTCAGCTTCTCCGTGGGGATA	0.547000														94			30		0	0	1	0	0
CCDC70	83446	broad.mit.edu	37	13	52439538	52439538	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:52439538G>A	uc010tgr.1	-	0		c.682C>T			CCDC70_uc001vfu.4_Silent_p.L8L|CCDC70_uc021rjv.1_Silent_p.L8L			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CATTCCGGCTGATAAGGAAGA	0.572000														58			30		0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95540633	95540633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:95540633G>A	uc002stw.1	+	3	919	c.826G>A	c.(826-828)Gac>Aac	p.D276N	LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	276					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CATCCTTCGCGACACCTCCGA	0.687000														15			3		0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247694907	247694907	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247694907G>A	uc021pmb.1	-	0	907	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.R303W	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			ACCATGTGCCGGAGGGCGCTC	0.517000														52			21		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22063225	22063225	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:22063225G>A	uc001rfh.3	-	7	1206	c.1186C>T	c.(1186-1188)Ctt>Ttt	p.L396F	ABCC9_uc001rfi.1_Missense_Mutation_p.L396F	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	396	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAGAGCCTAAGGATTTTATTA	0.328000														73			40		0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56207630	56207630	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:56207630G>A	uc002adj.3	-	0	1700	c.1400C>T	c.(1399-1401)tCc>tTc	p.S467F	NEDD4_uc002adl.3_Intron|NEDD4_uc002adi.3_Missense_Mutation_p.S467F|NEDD4_uc010ugj.2_Missense_Mutation_p.S467F|NEDD4_uc010bfm.3_Missense_Mutation_p.S467F|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	467					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GGATAGACAGGAAATATTTGG	0.358000														121			42		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222294837	222294837	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:222294837G>A	uc002vmq.3	-	14	2573	c.2531C>T	c.(2530-2532)cCc>cTc	p.P844L	EPHA4_uc002vmr.2_Missense_Mutation_p.P844L|EPHA4_uc010zlm.1_Missense_Mutation_p.P785L	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	844	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)		CATTGGAGGGGGTAACCGATA	0.522000														81			28		0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160851014	160851014	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160851014G>A	uc001fxc.3	-	4	610	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	165	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCTCAGCAGGGAGCTGTTTCT	0.567000														90			48		0	0	1	0	0
METTL8	79828	broad.mit.edu	37	2	172195966	172195966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:172195966G>A	uc010zdo.2	-	3	475	c.334C>T	c.(334-336)Cct>Tct	p.P112S	METTL8_uc002ugu.4_Missense_Mutation_p.P112S|METTL8_uc002ugt.4_Missense_Mutation_p.P112S|METTL8_uc002ugs.4_Missense_Mutation_p.P62S|METTL8_uc010zdp.2_Missense_Mutation_p.P67S	NM_024770	NP_079046	B3KW44	B3KW44_HUMAN	Homo sapiens methyltransferase like 8 (METTL8), mRNA.	112							methyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						AGAATTTCAGGAAATTCCCTC	0.358000														101			47		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474453	140474453	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140474453C>T	uc003lil.3	+	0	217	c.79C>T	c.(79-81)Cag>Tag	p.Q27*	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	27					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCATAGCTCAGGCTAGTTG	0.522000														58			27		0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583582	10583582	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10583582G>A	uc011kwz.2	-	5	1022	c.989C>T	c.(988-990)cCc>cTc	p.P330L	SOX7_uc003wtf.3_Missense_Mutation_p.P278L	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	278	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AGGAGATGGGGGACAGCCGGG	0.677000														27			16		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51201152	51201152	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51201152G>A	uc002psx.1	-	11	1828	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	603	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGTCAGAGGGGAACCAGCCAA	0.552000														32			20		0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86954766	86954766	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:86954766G>A	uc001dlt.3	+	7	1530	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	CLCA1_uc001dls.1_Missense_Mutation_p.E363K	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	424	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GTGCTTTAACGAGGTCAAACA	0.468000														71			16		0	0	1	0	0
PRR23A	729627	broad.mit.edu	37	3	138724463	138724463	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:138724463G>A	uc011bms.2	-	0	648	c.648C>T	c.(646-648)ttC>ttT	p.F216F		NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN	Homo sapiens proline rich 23A (PRR23A), mRNA.	216	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						ATTCCGGGTCGAAGAAGGGGC	0.662000														10			5		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131831414	131831414	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:131831414C>T	uc003vra.4	-	27	5139	c.4910G>A	c.(4909-4911)cGg>cAg	p.R1637Q	PLXNA4_uc003vqz.4_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1637						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATAGGTGTCCGTGAGCGGAG	0.602000														180			62		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18624986	18624986	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:18624986C>T	uc003sui.3	+	1	146	c.105C>T	c.(103-105)ccC>ccT	p.P35P	HDAC9_uc003sue.3_Silent_p.P35P|HDAC9_uc011jyd.2_Silent_p.P35P|HDAC9_uc003suh.3_Silent_p.P35P|HDAC9_uc003suj.3_Silent_p.P35P|HDAC9_uc011jya.2_Silent_p.P77P|HDAC9_uc003sua.1_Silent_p.P54P|HDAC9_uc003sud.2_Silent_p.P35P|HDAC9_uc011jyc.2_Silent_p.P35P|HDAC9_uc011jyb.2_Silent_p.P35P|HDAC9_uc003suf.2_Silent_p.P63P|HDAC9_uc010kud.2_Silent_p.P35P|HDAC9_uc011jye.2_Silent_p.P4P|HDAC9_uc011jyf.2_Silent_p.P4P	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	35					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.P35P(4)|p.P77P(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGATGATGCCCGTGGTGGACC	0.483000														150			20		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18524229	18524229	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:18524229C>T	uc001rdt.3	+	11	1857	c.1741C>T	c.(1741-1743)Cca>Tca	p.P581S	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.P622S|PIK3C2G_uc010sic.2_Missense_Mutation_p.P400S	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	581					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GACTTGTCTTCCACTGTTTCC	0.358000														32			9		0	0	1	0	0
TTC1	7265	broad.mit.edu	37	5	159492045	159492045	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:159492045C>T	uc003lxu.3	+	7	902	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_003314	NP_003305	Q99614	TTC1_HUMAN	Homo sapiens tetratricopeptide repeat domain 1 (TTC1), mRNA.	284					protein folding		unfolded protein binding	p.F284L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		CCATCAATTTCGTTCAAAATC	0.423000														72			11		0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182195	100182195	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:100182195C>T	uc001ygo.3	+	7	742	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	CYP46A1_uc001ygp.3_Missense_Mutation_p.R95C	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	248					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGAGAGCATTCGCTTCCTGCG	0.607000														59			34		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390946	197390946	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197390946C>T	uc001gtz.3	+	5	2197	c.1988C>T	c.(1987-1989)tCa>tTa	p.S663L	CRB1_uc010poz.2_Missense_Mutation_p.S594L|CRB1_uc009wza.3_Missense_Mutation_p.S551L|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.S663L|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.S144L|CRB1_uc001gub.1_Missense_Mutation_p.S312L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	663	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCTGGCTCATCATTAAATGTC	0.443000														162			17		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91347554	91347554	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:91347554G>A	uc001tbj.3	-	0	1400	c.966C>T	c.(964-966)gtC>gtT	p.V322V		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	322	Glu-rich.									NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						cagcctcttcgacctcttctt	0.557000														31			9		0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46672983	46672983	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46672983C>T	uc010jzf.3	-	10	1365	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R	PLA2G7_uc021zae.1_Missense_Mutation_p.G366R	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	366					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AGCATGTGTCCAATTATTTTG	0.333000														64			9		0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123302375	123302375	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:123302375C>T	uc003vky.2	+	1	892	c.735C>T	c.(733-735)ttC>ttT	p.F245F		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	245						cytoskeleton	actin binding|tropomyosin binding										TGAAGACGTTCAGTCTGGCCA	0.498000														47			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084263	9084263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9084263C>T	uc002mkp.3	-	0	7756	c.7552G>A	c.(7552-7554)Ggc>Agc	p.G2518S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2518	Ser-rich.|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						TTGAGAAAGCCCATGGCAGGT	0.512000														33			13		0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105207212	105207212	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105207212C>T	uc001ypd.3	+	6	695	c.621C>T	c.(619-621)ttC>ttT	p.F207F	ADSSL1_uc001ype.3_Silent_p.F250F|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA.	207					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	AGTCGATGTTCCCCACCCTGG	0.602000														294			17		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153652206	153652206	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153652206C>T	uc001fcs.4	+	0	1043	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	NPR1_uc010pdz.2_5'Flank	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	208					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CATGCGGGTCCGCGACCGCCT	0.657000														18			4		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026768	79026768	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:79026768C>T	uc003kgc.3	+	1	2252	c.2180C>T	c.(2179-2181)tCt>tTt	p.S727F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	727						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAGGTGTTTCTGAGTACATG	0.453000														60			30		0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5153839	5153839	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:5153839C>T	uc001qni.3	+	0	755	c.526C>T	c.(526-528)Ctc>Ttc	p.L176F		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	176						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CGACGGTATCCTCTACTACTA	0.652000														73			8		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32187941	32187941	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32187941G>A	uc003obb.3	-	6	1419	c.1280C>T	c.(1279-1281)cCc>cTc	p.P427L	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.P427L	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	427	EGF-like 10.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGGCAGGTGGGCCCCGAATA	0.612000														39			15		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48729211	48729211	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:48729211G>A	uc001zwx.2	-	52	6838	c.6443C>T	c.(6442-6444)tCc>tTc	p.S2148F	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2148	EGF-like 36; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCAGCGATAGGAACCATCTGT	0.358000														71			25		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134125848	134125848	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:134125848G>A	uc003ytw.3	+	44	7795	c.7754_splice	c.e44+1	p.R2585_splice	TG_uc010mdw.3_Splice_Site_p.R1344_splice|TG_uc011ljb.2_Splice_Site_p.R954_splice|TG_uc011ljc.2_Splice_Site_p.R718_splice	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2585					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGCCACCCGGTAAGCTAAGC	0.532000														16			7		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121383391	121383391	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:121383391C>T	uc003yox.3	+	48	5577	c.5312_splice	c.e48-1	p.A1771_splice		NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1771	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCCTCTTTAGCTCCCCATCCA	0.517000														211			18		0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102589725	102589725	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:102589725G>A	uc010mbu.3	+	6	1311	c.981G>A	c.(979-981)gcG>gcA	p.A327A		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	327						cytoplasm|nucleus	DNA binding	p.A327P(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AGCATACGGCGAAGCAGAGGG	0.498000														40			5		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20651245	20651245	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:20651245G>A	uc001ytg.3	-	16	2412	c.1703C>T	c.(1702-1704)tCt>tTt	p.S568F	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.S568F|HERC2P3_uc010tyy.2_Missense_Mutation_p.S568F					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AACTGTGGCAGAAGCACCTTG	0.502000														44			18		0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45877960	45877960	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:45877960G>A	uc001jce.3	+	1	279	c.180G>A	c.(178-180)gaG>gaA	p.E60E	ALOX5_uc009xmt.3_Silent_p.E60E|ALOX5_uc010qfg.2_Silent_p.E60E|ALOX5_uc021ppr.1_Silent_p.E60E	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	60	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CTGTGGACGAGGAACTGGGCG	0.542000														48			18		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475273	140475273	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140475273C>T	uc003lil.3	+	0	1037	c.899C>T	c.(898-900)tCg>tTg	p.S300L	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	300	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S300*(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTGCAAAATCGGGAGAACTG	0.413000														73			38		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35774065	35774065	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35774065G>A	uc003jjo.3	+	27	4131	c.4020G>A	c.(4018-4020)agG>agA	p.R1340R	SPEF2_uc003jjp.1_Silent_p.R826R|SPEF2_uc003jjr.3_5'UTR	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1340					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAATCAAAAGGAAAAATGAAC	0.388000														68			9		0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53853075	53853075	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53853075C>T	uc001sdl.4	+	5	613	c.263C>T	c.(262-264)aCc>aTc	p.T88I	PCBP2_uc001sde.4_Missense_Mutation_p.T88I|PCBP2_uc001sdi.4_Missense_Mutation_p.T88I|PCBP2_uc001sdd.4_Missense_Mutation_p.T88I|PCBP2_uc001sdf.4_Missense_Mutation_p.T88I|PCBP2_uc001sdc.4_Missense_Mutation_p.T88I|PCBP2_uc001sdb.4_Missense_Mutation_p.T88I|PCBP2_uc010soh.1_Missense_Mutation_p.T88I|PCBP2_uc001sdg.1_Non-coding_Transcript	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA.	88					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						AGCTCTATGACCAATAGCACA	0.483000														98			31		0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076221	87076221	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:87076221C>T	uc011lfy.2	-	1	825	c.825G>A	c.(823-825)ctG>ctA	p.L275L		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	275	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			ATTTGCCTTTCAGAATCTTCC	0.403000														42			10		0	0	1	0	0
GTPBP3	84705	broad.mit.edu	37	19	17450006	17450006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17450006C>T	uc002ngg.4	+	4	930	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	GTPBP3_uc010xpo.2_Missense_Mutation_p.R269C|GTPBP3_uc010ear.2_Non-coding_Transcript|GTPBP3_uc010eas.3_Missense_Mutation_p.R247C|GTPBP3_uc002ngh.4_Missense_Mutation_p.R247C	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	247					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GCAGAGGCTCCGCTCAGGGGT	0.662000														30			19		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128362828	128362828	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:128362828G>A	uc003kuy.3	+	7	1654	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	SLC27A6_uc003kuz.3_Missense_Mutation_p.E420K	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	420					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TCTTGCAGGAGAACCTGGACT	0.383000														84			37		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124385898	124385898	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124385898C>T	uc003ehg.3	+	46	6695	c.6568C>T	c.(6568-6570)Ccc>Tcc	p.P2190S	KALRN_uc003ehi.3_Missense_Mutation_p.P531S|KALRN_uc003ehk.3_Missense_Mutation_p.P493S|KALRN_uc011bjz.2_Missense_Mutation_p.P282S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2189	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGACAATGATCCCTGCAAGTT	0.433000														74			29		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065757	35065757	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35065757C>T	uc003jjm.3	-	9	1862	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.D334N|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	435					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCACACACATCAGTAATATTG	0.483000														173			27		0	0	1	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122007186	122007186	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:122007186C>T	uc002tmx.3	-	2	345	c.252G>A	c.(250-252)aaG>aaA	p.K84K	TFCP2L1_uc010flr.3_Silent_p.K84K	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	84					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					AGTCTCCCAGCTTCCGATTCT	0.458000														75			30		0	0	1	0	0
ZNF890P	645700	broad.mit.edu	37	7	5167360	5167360	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:5167360G>A	uc003snu.1	-	1	135	c.24C>T	c.(22-24)ttC>ttT	p.F8F	ZNF890P_uc010ksu.1_Intron|ZNF890P_uc011jwf.1_Silent_p.F8F					Homo sapiens zinc finger protein 890, pseudogene (ZNF890P), non-coding RNA.																		CCACGTCCCCGAATGACAGTG	0.557000														16			4		0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59189495	59189495	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59189495C>T	uc010rkt.2	-	0	932	c.932G>A	c.(931-933)gGg>gAg	p.G311E		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P310H(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GTGAGAAATCCCGGGGTCCCT	0.413000														113			48		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113283333	113283333	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113283333C>T	uc001pnz.3	-	5	1404	c.1083G>A	c.(1081-1083)agG>agA	p.R361R	DRD2_uc010rwv.2_Silent_p.R360R|DRD2_uc001poa.4_Silent_p.R361R|DRD2_uc001pob.4_Silent_p.R332R	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	361	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GGGAGAGCTTCCTACGGCTCA	0.567000														56			25		0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1808290	1808290	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:1808290C>T	uc003wpr.3	+	3	599	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F	ARHGEF10_uc003wpq.1_Missense_Mutation_p.L165F|ARHGEF10_uc003wps.3_Missense_Mutation_p.L141F|ARHGEF10_uc003wpt.3_Missense_Mutation_p.L55F|ARHGEF10_uc010lrd.2_Missense_Mutation_p.L55F|ARHGEF10_uc003wpu.3_Missense_Mutation_p.L55F	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	165					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CAACCTGCCCCTCCTGCTGCC	0.662000														51			27		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102956585	102956585	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:102956585G>A	uc002tbu.1	+	3	571	c.300G>A	c.(298-300)gcG>gcA	p.A100A	IL1RL1_uc010ywa.2_5'UTR|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Silent_p.A100A	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	100	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTGGATATGCGAATGTCACCA	0.299000														30			7		0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153072226	153072226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:153072226C>T	uc004fja.1	-	3	725	c.475G>A	c.(475-477)Gag>Aag	p.E159K	PDZD4_uc004fiy.1_Missense_Mutation_p.E78K|PDZD4_uc004fiz.1_Missense_Mutation_p.E153K|PDZD4_uc004fix.2_Missense_Mutation_p.E57K|PDZD4_uc011mze.1_Missense_Mutation_p.E44K|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	153	PDZ.					cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGTCCTCCTCGTCGTCCGTG	0.632000														48			7		0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133734298	133734298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133734298G>A	uc003ytn.3	-	6	912	c.683C>T	c.(682-684)tCt>tTt	p.S228F	TMEM71_uc003ytm.2_Missense_Mutation_p.S68F|TMEM71_uc003yto.3_Missense_Mutation_p.S184F	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	Homo sapiens transmembrane protein 71 (TMEM71), transcript variant 1, mRNA.	247						integral to membrane		p.S228Y(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGCACATGCAGAAATGATTAA	0.348000														118			21		0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632848	143632848	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143632848G>A	uc011ktv.2	+	0	523	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CAAGTTTATTGATCACATATC	0.498000														72			31		0	0	1	0	0
DIABLO	56616	broad.mit.edu	37	12	122702927	122702927	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:122702927G>A	uc010tab.2	-	3	1006	c.201C>T	c.(199-201)tcC>tcT	p.S67S	DIABLO_uc010taa.2_Silent_p.S14S|DIABLO_uc010tac.2_Intron|DIABLO_uc010tad.2_Intron|VPS33A_uc001ucc.3_Non-coding_Transcript	NM_019887	NP_063940	Q9NR28	DBLOH_HUMAN	Homo sapiens diablo, IAP-binding mitochondrial protein (DIABLO), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	67				Missing (in Ref. 2; BAB71568).	activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CACTACTAAGGGAATGAGGCT	0.398000														82			13		0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132197785	132197785	+	Silent	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:132197785A>C	uc003kxz.1	-	1	1113	c.861T>G	c.(859-861)ccT>ccG	p.P287P	GDF9_uc011cxj.1_Silent_p.P199P	NM_005260	NP_005251	O60383	GDF9_HUMAN	Homo sapiens growth differentiation factor 9 (GDF9), mRNA.	287					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCCTGGGAAGGCCTCCTTT	0.512000														49			21		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228402555	228402555	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228402555C>T	uc009xez.1	+	4	1628	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S	OBSCN_uc001hsn.3_Silent_p.S528S|AK056556_uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	528	Fibronectin type-III 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGAGAGTTCCGTGATTCTCA	0.592000														19			10		0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894517	123894517	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123894517C>T	uc010sad.2	+	0	798	c.798C>T	c.(796-798)gtC>gtT	p.V266V		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCAGGGACGTCGTGGATGGAG	0.512000														127			59		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577687	92577687	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92577687G>A	uc001pdj.4	+	17	11171	c.11154G>A	c.(11152-11154)ctG>ctA	p.L3718L	FAT3_uc001pdi.4_Silent_p.L158L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3718					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGCCTACCTGATCCAGAAGC	0.547000										TCGA Ovarian(4;0.039)				21			3		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81914540	81914540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:81914540C>T	uc002fgt.3	+	7	852	c.674C>T	c.(673-675)tCg>tTg	p.S225L	PLCG2_uc010chg.1_Missense_Mutation_p.S225L	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	225					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AAAAAGGATTCGTCCGTGTTC	0.507000														94			24		0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200008813	200008813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:200008813C>T	uc001gvb.3	+	1	298	c.92C>T	c.(91-93)tCc>tTc	p.S31F	NR5A2_uc001gvc.3_Intron|NR5A2_uc009wzh.3_5'UTR|NR5A2_uc010pph.2_5'Flank|NR5A2_uc009wzg.1_Non-coding_Transcript	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	31					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CGACACGGATCCCCCATCCCC	0.647000														113			30		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30026560	30026560	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:30026560G>A	uc001zcr.3	-	11	1909	c.1434C>T	c.(1432-1434)atC>atT	p.I478I	TJP1_uc010azl.3_Silent_p.I466I|TJP1_uc001zcq.3_Silent_p.I482I|TJP1_uc001zcs.3_Silent_p.I478I	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	478	PDZ 3.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTTCTCTTATGATATTTGTAA	0.363000														77			29		0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122805572	122805572	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:122805572C>T	uc001pym.3	+	4	1720	c.1423C>T	c.(1423-1425)Caa>Taa	p.Q475*		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	475										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACACAAAGACCAAGAAGAGAA	0.398000														138			49		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121008394	121008394	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121008394G>A	uc010rzo.2	+	9	3206	c.3206G>A	c.(3205-3207)aGg>aAg	p.R1069K		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1069					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAGACAACAGGGTCCACTGC	0.572000														46			9		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79028721	79028721	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:79028721C>T	uc003kgc.3	+	1	4205	c.4133C>T	c.(4132-4134)tCt>tTt	p.S1378F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1378						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACAGATTCATCTCTTATCACT	0.393000														30			16		0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49898437	49898437	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49898437C>T	uc003cxt.1	-	6	770	c.577G>A	c.(577-579)Ggc>Agc	p.G193S	CAMKV_uc011bcy.1_Missense_Mutation_p.G118S|CAMKV_uc003cxv.1_Intron|CAMKV_uc003cxw.1_Missense_Mutation_p.G25S|CAMKV_uc003cxx.1_Missense_Mutation_p.G25S|CAMKV_uc003cxu.2_Missense_Mutation_p.G193S|CAMKV_uc011bcz.1_Missense_Mutation_p.G156S|CAMKV_uc011bda.1_Missense_Mutation_p.G150S|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	193	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGCTGCCGGCCTACCACCTCT	0.572000														34			16		0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521143	39521143	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39521143G>A	uc002hwl.3	-	5	1030	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	329	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				AGGTCACTGCGGATCTCCGCC	0.627000														62			52		0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52902752	52902752	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:52902752G>A	uc003pbh.2	-	3	631	c.141C>T	c.(139-141)aaC>aaT	p.N47N	ICK_uc003pbi.2_Silent_p.N47N|ICK_uc003pbj.3_Silent_p.N47N	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	47	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					CCTCCCGAAGGTTCATGCATT	0.299000														47			22		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130281490	130281490	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:130281490C>T	uc001qgg.4	-	5	1930	c.1572G>A	c.(1570-1572)gtG>gtA	p.V524V	ADAMTS8_uc001qgf.3_Silent_p.V5V	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	524	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTCCATCTGCCACGGGCTGCA	0.582000														47			16		0	0	1	0	0
CNTFR	1271	broad.mit.edu	37	9	34557641	34557641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:34557641G>A	uc003zup.2	-	5	781	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	CNTFR_uc003zuq.2_Missense_Mutation_p.R163C|CNTFR_uc022bgg.1_Missense_Mutation_p.R163C	NM_147164	NP_671693	P26992	CNTFR_HUMAN	Homo sapiens ciliary neurotrophic factor receptor (CNTFR), transcript variant 1, mRNA.	163	Fibronectin type-III 1.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		ATGTGGCAGCGGTTCTTGAGG	0.537000														62			24		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071953	9071953	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9071953G>A	uc002mkp.3	-	2	15697	c.15493C>T	c.(15493-15495)Cct>Tct	p.P5165S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5167	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						GATGTGGAAGGAGCTGGATCT	0.488000														195			57		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427031	135427031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:135427031C>T	uc004ezu.1	+	5	1457	c.1166C>T	c.(1165-1167)tCa>tTa	p.S389L	GPR112_uc010nsb.1_Missense_Mutation_p.S184L|GPR112_uc010nsc.1_Missense_Mutation_p.S156L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	389					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTACAACTTCAGCAATTAAA	0.368000														29			48		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208804	58208804	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:58208804C>T	uc001vhq.1	+	0	3016	c.2124C>T	c.(2122-2124)ctC>ctT	p.L708L	PCDH17_uc010aec.1_Silent_p.L708L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	708					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGCTGCCGCTCATCGTGACTC	0.592000														58			23		0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111156379	111156379	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:111156379G>A	uc001plc.3	+	4	457	c.310_splice	c.e4-1	p.R104_splice		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	104										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		TCTCCTCAGAGGGACTCATGG	0.587000														69			9		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175048623	175048623	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175048623C>T	uc001gkl.1	+	2	677	c.564C>T	c.(562-564)tgC>tgT	p.C188C	TNN_uc010pmx.1_Silent_p.C188C	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	188	EGF-like 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCTGCCTGTGCCATGAGCCCT	0.746000														8			5		0	0	1	0	0
GDF6	392255	broad.mit.edu	37	8	97157007	97157007	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:97157007C>T	uc003yhp.3	-	1	1252	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	Homo sapiens growth differentiation factor 6 (GDF6), mRNA.	384					BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CGCATACACCCTCGCAGTGAT	0.637000														24			18		0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132047130	132047130	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:132047130G>A	uc010htp.2	+	1	230	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	ACPP_uc003eon.3_Missense_Mutation_p.R47Q|ACPP_uc003eop.4_Missense_Mutation_p.R47Q	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	47						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CATGGAGACCGAAGTCCCATT	0.433000														52			20		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92797198	92797198	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:92797198G>A	uc010tif.2	+	6	1883	c.1517G>A	c.(1516-1518)gGa>gAa	p.G506E		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	506						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GGTTGCGGGGGATCAGGAAGT	0.433000														66			47		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151729515	151729515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:151729515G>A	uc010ipj.3	-	31	5585	c.5341C>T	c.(5341-5343)Cca>Tca	p.P1781S	LRBA_uc003ilt.4_Missense_Mutation_p.P440S|LRBA_uc003ilu.4_Missense_Mutation_p.P1781S	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1781						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCAACTGTTGGAACTGAGGGC	0.294000														69			33		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55377838	55377838	+	Missense_Mutation	SNP	G	A	A	rs138770759	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55377838G>A	uc002qhl.4	+	7	1182	c.1119G>A	c.(1117-1119)atG>atA	p.M373I	KIR3DL2_uc002qho.4_Missense_Mutation_p.M373I|KIR3DL2_uc010esh.3_Missense_Mutation_p.M356I			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	373					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTGCTGTAATGGACCAAGAGC	0.552000														120			42		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113276350	113276350	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113276350G>A	uc010mtz.3	-	3	1338	c.1001C>T	c.(1000-1002)cCa>cTa	p.P334L	SVEP1_uc010mua.1_Missense_Mutation_p.P334L|SVEP1_uc004beu.2_Missense_Mutation_p.P334L|SVEP1_uc004bev.3_Missense_Mutation_p.P78L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	334					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GATTCCTCCTGGTGAGCCTTC	0.512000														9			7		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247597449	247597450	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247597449_247597450CC>TT	uc001icr.3	+	6	2510_2511	c.2372_2373CC>TT	c.(2371-2373)tcc>tTT	p.S791F	NLRP3_uc001ics.3_Missense_Mutation_p.S791F|NLRP3_uc001icu.3_Missense_Mutation_p.S791F|NLRP3_uc001icw.3_Missense_Mutation_p.S734F|NLRP3_uc001icv.3_Missense_Mutation_p.S734F|NLRP3_uc010pyw.2_Intron	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	791					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTCGACATCTCCTTGGTCCTCA	0.569000														99			41		0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119996563	119996563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:119996563G>A	uc001pwz.3	-	3	1293	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L	TRIM29_uc010rzi.2_Missense_Mutation_p.P129L|TRIM29_uc010rzj.2_Missense_Mutation_p.P123L|TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	390					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CAGGGGTGGGGGGAGAGAGTA	0.537000														63			25		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511109	169511109	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169511109G>A	uc001ggg.1	-	12	3364	c.3219C>T	c.(3217-3219)tcC>tcT	p.S1073S		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1073	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATGTTTCATTGGATTTATGAA	0.423000														266			77		0	0	1	0	0
IL12A	3592	broad.mit.edu	37	3	159708044	159708044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:159708044C>T	uc003fcx.3	+	1	430	c.209C>T	c.(208-210)cCa>cTa	p.P70L	AK097161_uc003fcw.1_Intron	NM_000882	NP_000873	P29459	IL12A_HUMAN	Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) (IL12A), mRNA.	36					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NK T cell activation|positive regulation of T cell mediated cytotoxicity|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of smooth muscle cell apoptosis|positive regulation of tyrosine phosphorylation of Stat4 protein|response to UV-B|response to lipopolysaccharide|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGAATGTTCCCATGCCTTCAC	0.602000														60			17		0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179545793	179545793	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:179545793G>A	uc003mlq.3	-	7	1278	c.981C>T	c.(979-981)atC>atT	p.I327I	RASGEF1C_uc003mlr.3_Silent_p.I327I|RASGEF1C_uc003mlp.4_Silent_p.I176I	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	327	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTACCTCGAGGATGAAAAACT	0.607000														119			8		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219903697	219903697	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219903697G>A	uc002vjl.1	-	2	158	c.74C>T	c.(73-75)tCt>tTt	p.S25F	CCDC108_uc010zkp.1_Intron|CCDC108_uc010zkq.1_Intron|CCDC108_uc002vjn.3_Intron	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	25						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGAAAGAAGAGGCAAATGA	0.408000														77			35		0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1116178	1116178	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1116178C>T	uc001acy.2	+	7	844	c.693C>T	c.(691-693)acC>acT	p.T231T	AK128833_uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Silent_p.T231T|TTLL10_uc001acz.2_Silent_p.T158T	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	231	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGCTCAGCACCCTTCGGGGAC	0.692000														15			8		0	0	1	0	0
LOC126536	126536	broad.mit.edu	37	19	16131429	16131429	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16131429G>A	uc002nbw.2	+	2		c.260G>A			LOC126536_uc002nca.3_5'Flank|LOC126536_uc010xow.2_5'Flank|LOC126536_uc002ncb.1_5'Flank					Homo sapiens uncharacterized LOC126536 (LOC126536), non-coding RNA.																		CAGTGCCCTGGAAGTGAAGGT	0.622000														28			13		0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49167855	49167855	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49167855G>A	uc002pkb.3	-	2	897	c.801C>T	c.(799-801)ttC>ttT	p.F267F	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|NTN5_uc002pkc.3_Silent_p.F267F	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	Homo sapiens netrin 5 (NTN5), mRNA.	267	Laminin EGF-like 2.					extracellular region		p.F267L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCCTGCGGCTGAAGATAGGCT	0.682000														39			9		0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84733647	84733647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:84733647G>A	uc021pvc.1	+	6	1415	c.1388G>A	c.(1387-1389)gGa>gAa	p.G463E	NRG3_uc010qlz.1_Missense_Mutation_p.G462E|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.G463E|NRG3_uc001kcp.2_Missense_Mutation_p.G242E|NRG3_uc001kcq.2_Missense_Mutation_p.G113E|NRG3_uc021pvd.1_Missense_Mutation_p.G242E|NRG3_uc021pve.1_Missense_Mutation_p.G267E|NRG3_uc021pvf.1_Missense_Mutation_p.G113E|NRG3_uc021pvg.1_Missense_Mutation_p.G267E|NRG3_uc021pvh.1_Missense_Mutation_p.G51E|NRG3_uc021pvi.1_Missense_Mutation_p.G293E|NRG3_uc021pvk.1_5'UTR|NRG3_uc001kcr.2_Missense_Mutation_p.G113E|NRG3_uc021pvl.1_Missense_Mutation_p.G113E	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	463					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCTGACAGAGGAAGCCAGTCT	0.527000														59			5		0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39755817	39755817	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:39755817G>A	uc010gnw.3	-	11	1264	c.969C>T	c.(967-969)ttC>ttT	p.F323F	ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Silent_p.F316F|ERG_uc011aek.2_Silent_p.F224F|ERG_uc010gnv.3_Silent_p.F200F|ERG_uc010gnx.3_Silent_p.F299F|ERG_uc011ael.2_Silent_p.F323F|ERG_uc002yxb.3_Silent_p.F299F	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	323					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				GCTCCAGGAGGAACTGCCAAA	0.587000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									61			16		0	0	1	0	0
GPBP1	65056	broad.mit.edu	37	5	56527007	56527007	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:56527007C>T	uc003jrk.4	+	3	348	c.291C>T	c.(289-291)taC>taT	p.Y97Y	GPBP1_uc003jrh.4_Silent_p.Y90Y|GPBP1_uc003jri.4_5'UTR|GPBP1_uc003jrj.4_Silent_p.Y97Y|GPBP1_uc021xyv.1_5'UTR	NM_001127236	NP_001190175	Q86WP2	GPBP1_HUMAN	Homo sapiens GC-rich promoter binding protein 1 (GPBP1), transcript variant 2, mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GAGGTGGATACCATGGTGGAA	0.398000														86			6		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192248	125192248	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:125192248C>T	uc010flu.3	+	4	1081	c.717C>T	c.(715-717)gcC>gcT	p.A239A	CNTNAP5_uc002tno.3_Silent_p.A239A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	239	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGAGGCTCGCCCTACACCTCA	0.537000														15			4		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28968350	28968350	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28968350G>A	uc002kwr.2	+	3	372	c.237G>A	c.(235-237)tcG>tcA	p.S79S	DSG4_uc002kwq.2_Silent_p.S79S	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	79	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACTGCGAATCGAACCAGAAGA	0.413000														57			21		0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91169121	91169122	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:91169121_91169122CC>TT	uc002bpp.3	+	9	969_970	c.863_864CC>TT	c.(862-864)gcc>gTT	p.A288V	CRTC3_uc002bpo.3_Missense_Mutation_p.A288V	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	288					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CCCCTGCCAGCCTCCCTGGACA	0.540000			T	MAML2	salivary gland mucoepidermoid									531			71		0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150715859	150715859	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150715859G>A	uc011kvc.2	-	5	1642	c.1566C>T	c.(1564-1566)ccC>ccT	p.P522P	ATG9B_uc003wig.4_Intron	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	522					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGTGCGCAGGGGCGCGGGGG	0.741000														6			3		0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524815	26524815	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26524815C>T	uc010oez.2	+	5	717	c.717C>T	c.(715-717)ttC>ttT	p.F239F	CATSPER4_uc010oey.1_Silent_p.F61F|CATSPER4_uc009vsf.3_Intron	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	239					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGTGCATTCGTGCCCAAGC	0.512000														311			132		0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4242186	4242186	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:4242186C>T	uc002cvz.4	-	5	1403	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	923	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	p.E464K(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TTTGGTGTTTCGCTACACCCT	0.557000														114			64		0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242814477	242814477	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242814477G>A	uc010fzu.1	+	1	793	c.770G>A	c.(769-771)gGg>gAg	p.G257E		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	257						integral to membrane											GCCATGCCTGGGGGCAAAGGC	0.667000														39			19		0	0	1	0	0
SNHG11	128439	broad.mit.edu	37	20	37077835	37077835	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:37077835C>T	uc002xip.2	+	0		c.1110C>T			SNHG11_uc002xiq.1_Intron|SNHG11_uc002xir.1_Intron|SNHG11_uc002xis.1_Intron|SNHG11_uc002xit.1_Intron|SNHG11_uc002xiu.1_Intron					Homo sapiens small nucleolar RNA, H/ACA box 39 (SNORA39), small nucleolar RNA.																		CCAATATTTTCCGATTGTTTT	0.418000														51			10		0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59271314	59271314	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:59271314C>T	uc001sqr.3	-	14	2650	c.2404G>A	c.(2404-2406)Gat>Aat	p.D802N	LRIG3_uc009zqh.3_Missense_Mutation_p.D742N|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	802						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CATCCGTCATCGTCTAACGAT	0.572000			T	ROS1	NSCLC									40			21		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1258188	1258188	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1258188G>A	uc001lta.3	+	24	3150	c.3091G>A	c.(3091-3093)Gac>Aac	p.D1031N	MUC5B_uc009yct.2_Missense_Mutation_p.D1031N	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1031	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAACTTCGACGACAATGCCAT	0.672000														7			3		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	819602	819602	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:819602G>A	uc002cjz.1	-	15	2988	c.2988C>T	c.(2986-2988)ccC>ccT	p.P996P	MIR662_uc021tac.1_5'Flank	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	645					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CCATCGCCAGGGGCAGGTACC	0.652000														22			10		0	0	1	0	0
ENDOV	284131	broad.mit.edu	37	17	78399335	78399335	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:78399335C>T	uc021ueo.1	+	6	657	c.629C>T	c.(628-630)tCc>tTc	p.S210F	ENDOV_uc002jyk.3_Missense_Mutation_p.S165F|ENDOV_uc002jyl.2_Missense_Mutation_p.S165F|ENDOV_uc021uep.1_Non-coding_Transcript|ENDOV_uc021ueq.1_Non-coding_Transcript|ENDOV_uc021uer.1_Non-coding_Transcript|ENDOV_uc021ues.1_Non-coding_Transcript	NM_173627	NP_775898	Q8N8Q3	ENDOV_HUMAN	Homo sapiens endonuclease V (ENDOV), transcript variant 1, mRNA.	210					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						CTCTACATCTCCGTGGGCCAC	0.692000								Direct reversal of damage						6			5		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131878824	131878824	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:131878824G>A	uc003vra.4	-	13	3082	c.2853C>T	c.(2851-2853)ttC>ttT	p.F951F		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	951	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GACTCACCATGAAGTAATAGA	0.592000														51			14		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42221651	42221651	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42221651C>T	uc002orl.3	+	5	1358	c.1237_splice	c.e5+1	p.Y413_splice	CEACAM5_uc002orj.1_Splice_Site_p.Y412_splice	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	413	Ig-like 4.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGAATGTCCTCTGTGAGTATC	0.512000														154			66		0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14355033	14355033	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:14355033T>C	uc010uza.2	+	16	3187	c.3032T>C	c.(3031-3033)cTg>cCg	p.L1011P	MKL2_uc002dcg.3_Missense_Mutation_p.L961P|MKL2_uc002dcj.3_Missense_Mutation_p.L256P	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	1000					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCCTTCTCTCTGATCGAGGAC	0.488000														62			7		0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7950069	7950069	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7950069G>A	uc010rbh.2	-	0	141	c.141C>T	c.(139-141)gtC>gtT	p.V47V		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGAGACGATGACTATAATAA	0.463000														98			41		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79029900	79029900	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:79029900C>T	uc003kgc.3	+	1	5384	c.5312C>T	c.(5311-5313)cCa>cTa	p.P1771L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1771						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAATAGGCCCATTACCACCA	0.408000														70			31		0	0	1	0	0
LMF1	64788	broad.mit.edu	37	16	961030	961030	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:961030G>A	uc021tae.1	-	3	568	c.564C>T	c.(562-564)tgC>tgT	p.C188C	LMF1_uc010uuu.2_5'UTR|LMF1_uc021tad.1_Silent_p.C19C|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_5'UTR|LMF1_uc010uuv.1_Non-coding_Transcript	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA.	188						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				TCCACAGAGGGCACAGGAAGA	0.557000														27			12		0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51133251	51133251	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51133251C>T	uc002pst.3	-	2	1486	c.852G>A	c.(850-852)cgG>cgA	p.R284R	SYT3_uc002psv.3_Silent_p.R284R|SYT3_uc010ycd.2_Silent_p.R284R	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	284						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCCCACCGCTCCGCCGGCCAC	0.662000														69			26		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78799654	78799654	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:78799654G>A	uc004akc.2	+	16	2801	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K	PCSK5_uc004ajz.3_Missense_Mutation_p.E755K|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Missense_Mutation_p.E29K	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	755	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TAACTGTACAGAATGTAGGGA	0.338000														23			22		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762808	130762808	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:130762808G>A	uc003qcb.3	+	1	3619	c.1241G>A	c.(1240-1242)cGg>cAg	p.R414Q	TMEM200A_uc003qca.3_Missense_Mutation_p.R414Q|TMEM200A_uc010kfh.3_Missense_Mutation_p.R414Q|TMEM200A_uc010kfi.3_Missense_Mutation_p.R414Q|TMEM200A_uc021zfg.1_Missense_Mutation_p.R414Q	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	414						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)		GCAGAACAACGGAAACATCCA	0.483000														33			27		0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201687649	201687649	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201687649C>T	uc021phi.1	+	2	1339	c.992C>T	c.(991-993)cCc>cTc	p.P331L	NAV1_uc001gwu.3_Missense_Mutation_p.P331L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	331					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGTGACGCGCCCTCTGTGGGT	0.697000														26			13		0	0	1	0	0
SLPI	6590	broad.mit.edu	37	20	43881651	43881651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43881651G>A	uc002xnm.1	-	2	408	c.386C>T	c.(385-387)cCt>cTt	p.P129L		NM_003064	NP_003055	P03973	SLPI_HUMAN	Homo sapiens secretory leukocyte peptidase inhibitor (SLPI), mRNA.	129	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				ACCTTTCACAGGGGAAACGCA	0.567000														88			29		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57553764	57553764	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57553764C>T	uc001snd.3	+	11	2421	c.1955C>T	c.(1954-1956)gCt>gTt	p.A652V		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	652					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACCCCAGGGCTATTGTGGTG	0.562000														41			12		0	0	1	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	521377	521377	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:521377C>T	uc002chf.3	+	2	1230	c.891C>T	c.(889-891)ttC>ttT	p.F297F		NM_014700	NP_055515	O75154	RFIP3_HUMAN	Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA.	297					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				TCGATGACTTCGTCACCTATG	0.602000														9			6		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51379771	51379771	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:51379771G>A	uc001wyu.3	-	12	1723	c.1596C>T	c.(1594-1596)ctC>ctT	p.L532L	PYGL_uc010tqq.2_Silent_p.L498L	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	532					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	p.L532F(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CGAGTTCCCGGAGGAAGACAT	0.478000														43			19		0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43576027	43576027	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43576027C>T	uc002ovr.3	-	3	961	c.789G>A	c.(787-789)gcG>gcA	p.A263A	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	263	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.A263A(2)|p.A263V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGTTAGAGTTCGCGAAGCAAG	0.443000														256			116		0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66811188	66811188	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66811188G>A	uc009yrl.3	+	4	931	c.701G>A	c.(700-702)aGc>aAc	p.S234N	SYT12_uc001oju.3_Missense_Mutation_p.S234N	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	234	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GAGGAGAAGAGCCTGCGGTTT	0.557000														70			36		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140207969	140207969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140207969G>A	uc003lho.2	+	0	320	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.R98Q|PCDHAC2_uc011dab.2_Missense_Mutation_p.R98Q	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	113	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R98Q(2)		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)			CTGTGCGGGCGGAGCGCGGAG	0.587000														303			93		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78032751	78032751	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:78032751C>T	uc010dht.3	+	8	1443	c.1412C>T	c.(1411-1413)aCc>aTc	p.T471I	CCDC40_uc010wub.2_Intron|CCDC40_uc021uem.1_Missense_Mutation_p.T471I|CCDC40_uc002jxm.4_Missense_Mutation_p.T254I	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	471					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTGAGGACACCCGGATTTTA	0.567000														68			28		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275274	71275274	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71275274C>T	uc003hfi.3	+	2	403	c.229C>T	c.(229-231)Cga>Tga	p.R77*		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	77	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTCTTTCTCTCGATTTAGCCA	0.458000														204			76		0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67941580	67941580	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:67941580C>T	uc004dxb.3	+	9	2665	c.2451C>T	c.(2449-2451)ccC>ccT	p.P817P	STARD8_uc004dxa.3_Silent_p.P737P|STARD8_uc004dxc.4_Silent_p.P737P	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	737	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						AGGATAGCCCCTCTCCCAGGT	0.577000														16			17		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10973801	10973801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:10973801C>T	uc003jfa.1	-	21	3587	c.3442G>A	c.(3442-3444)Gag>Aag	p.E1148K	CTNND2_uc010itt.2_Missense_Mutation_p.E1057K|CTNND2_uc011cmy.1_Missense_Mutation_p.E811K|CTNND2_uc011cmz.1_Missense_Mutation_p.E715K|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.E740K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1148					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTGCTGGGCTCCTGTGGGACT	0.537000														49			22		0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331609	85331609	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:85331609G>A	uc001dkl.2	-	0	234	c.195C>T	c.(193-195)ttC>ttT	p.F65F	LPAR3_uc009wcj.1_Silent_p.F65F	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	65					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						ACAGGTAGTAGAAGGGGAAAT	0.393000														129			26		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74976528	74976528	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:74976528G>A	uc001xqa.3	-	20	3573	c.3186C>T	c.(3184-3186)ccC>ccT	p.P1062P		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1062	Cys-rich.|EGF-like 9; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGAGGCCTGTGGGGCATGAGG	0.592000														145			12		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41010033	41010033	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41010033G>A	uc002ony.3	+	11	1745	c.1659G>A	c.(1657-1659)gaG>gaA	p.E553E	SPTBN4_uc002onx.3_Silent_p.E553E|SPTBN4_uc002onz.3_Silent_p.E553E	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	553					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGATGGAGGAGATGCAGGTGC	0.622000														39			7		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117221501	117221501	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:117221501G>A	uc001lcg.3	+	21	3759	c.3373G>A	c.(3373-3375)Gat>Aat	p.D1125N	ATRNL1_uc010qsm.2_Missense_Mutation_p.D254N|ATRNL1_uc010qsn.2_Intron	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1125						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACAGGAAGATGATCGCCACCA	0.323000														72			11		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14772190	14772190	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:14772190C>T	uc001rcd.3	-	23	2967	c.2830G>A	c.(2830-2832)Gga>Aga	p.G944R		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	944	Guanylate cyclase.				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						ACCGTATCTCCAAATAGACAA	0.478000														69			27		0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	371314	371314	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:371314G>A	uc002lol.3	-	5	687	c.644C>T	c.(643-645)cCt>cTt	p.P215L	THEG_uc002lom.3_Missense_Mutation_p.P191L	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	215					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.P215P(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGGCCAGACAGGAGTCGTCCT	0.597000														138			69		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50976922	50976922	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:50976922G>A	uc002lfe.2	+	22	3898	c.3282G>A	c.(3280-3282)aaG>aaA	p.K1094K	DCC_uc010dpf.2_Silent_p.K729K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1094					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCCTCAGAAGAACAGCAACC	0.532000														56			28		0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	40068723	40068723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40068723C>T	uc001zki.3	-	1	221	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	1										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTATAATATCCATTGAAATCC	0.338000														78			30		0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110051073	110051073	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110051073G>A	uc021org.1	-	0	462	c.462C>T	c.(460-462)ttC>ttT	p.F154F	AMIGO1_uc001dxx.4_Silent_p.F154F	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	154					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CCATGTCATCGAAGGCGCACC	0.537000														109			36		0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178936259	178936259	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:178936259G>A	uc002ulq.3	-	0	1224	c.906C>T	c.(904-906)gcC>gcT	p.A302A	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	302	GAF 1.				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)			CTACCTGGTAGGCATCAGGAA	0.512000									Primary Pigmented Nodular Adrenocortical Disease, Familial					141			10		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453654	84453654	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:84453654G>A	uc001vlk.3	-	0	2875	c.1989C>T	c.(1987-1989)tcC>tcT	p.S663S		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	663						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CTGTCTGTAGGGAATTAATCT	0.557000														34			5		0	0	1	0	0
CXCR5	643	broad.mit.edu	37	11	118764380	118764380	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118764380G>A	uc001pue.4	+	1	303	c.127G>A	c.(127-129)Ggg>Agg	p.G43R	CXCR5_uc001puf.3_5'UTR	NM_001716	NP_116743	P32302	CXCR5_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 5 (CXCR5), transcript variant 1, mRNA.	43					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TGCCACAGAGGGGCCCCTCAT	0.597000														102			30		0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225702509	225702509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:225702509G>A	uc001hpc.1	-	6	1460	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	ENAH_uc021pju.1_Missense_Mutation_p.P286L|ENAH_uc001hpd.1_Missense_Mutation_p.P336L|ENAH_uc001hpb.1_5'UTR	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	336	Pro-rich.				T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		aggtggagggggccctggggg	0.672000														14			7		0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118351283	118351283	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:118351283G>A	uc001lco.1	+	3	68	c.50_splice	c.e3-1	p.G17_splice	PNLIPRP1_uc001lcp.2_Splice_Site_p.G17_splice|PNLIPRP1_uc001lcn.3_Splice_Site_p.G17_splice|PNLIPRP1_uc009xys.1_Splice_Site	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	17					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TTCTCTGTAGGAAAAGAAGTT	0.537000														109			41		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565267	58565267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58565267G>A	uc002qrc.1	+	5	1322	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	359					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGCCCCCGGGAGTCCGTCCC	0.657000														33			17		0	0	1	0	0
CST5	1473	broad.mit.edu	37	20	23860381	23860381	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:23860381G>A	uc002wtr.1	-	1	1	c.-66_splice	c.e1-1			NM_001900	NP_001891	P28325	CYTD_HUMAN	Homo sapiens cystatin D (CST5), mRNA.							extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						GCTGAGGCAGGAAGCCCAGGC	0.602000														15			4		0	0	1	0	0
MSRB3	253827	broad.mit.edu	37	12	65847522	65847522	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:65847522C>T	uc001ssn.3	+	4	454	c.328C>T	c.(328-330)Cac>Tac	p.H110Y	MSRB3_uc009zqp.3_Missense_Mutation_p.H103Y|MSRB3_uc001ssm.3_Missense_Mutation_p.H103Y|MSRB3_uc021qzy.1_Missense_Mutation_p.H103Y	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript variant 1, mRNA.	110					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GCCTTCATTCCACGATGTGAT	0.448000														58			27		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124345682	124345682	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124345682G>A	uc001uft.4	+	37	6544	c.6519G>A	c.(6517-6519)agG>agA	p.R2173R		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2173	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACATCTTCAGGGAAATCAACA	0.453000														20			12		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48772186	48772186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:48772186G>A	uc003xqi.3	-	46	6247	c.6190C>T	c.(6190-6192)Cgt>Tgt	p.R2064C	PRKDC_uc003xqj.3_Missense_Mutation_p.R2064C	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2065					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTCCGAAAACGACCAGTGGCA	0.458000								Non-homologous end-joining						166			54		0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124489364	124489364	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124489364G>A	uc001qah.3	+	3	712	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	Homo sapiens pannexin 3 (PANX3), mRNA.	238					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	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;0.0219)		CTTCTTCCAGGAAGAATTCAG	0.498000														36			15		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103149037	103149037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103149037G>A	uc002tbz.4	+	11	2744	c.2287G>A	c.(2287-2289)Gag>Aag	p.E763K		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	763					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						GTCTGGAGGGGAGAGTGAGGG	0.552000														31			11		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55377319	55377319	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55377319C>T	uc002qhl.4	+	6	1123	c.1060C>T	c.(1060-1062)Ctc>Ttc	p.L354F	KIR3DL2_uc002qho.4_Missense_Mutation_p.L354F|KIR3DL2_uc010esh.3_Missense_Mutation_p.L337F			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	354					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		cctcttcatcctcctcctctt	0.493000														58			24		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53908220	53908220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:53908220C>T	uc002acj.2	-	14	2225	c.2183G>A	c.(2182-2184)aGa>aAa	p.R728K	WDR72_uc010bfi.1_Missense_Mutation_p.R728K	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	728								p.L727M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTTACTTTTTCTCAGTGTCAG	0.468000														80			26		0	0	1	0	0
MESP1	55897	broad.mit.edu	37	15	90293986	90293986	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90293986G>A	uc002bol.3	-	0	555	c.477C>T	c.(475-477)tcC>tcT	p.S159S		NM_018670	NP_061140	Q9BRJ9	MESP1_HUMAN	Homo sapiens mesoderm posterior 1 homolog (mouse) (MESP1), mRNA.	159					Notch signaling pathway|cardiac atrium formation|cardiac cell fate determination|cardiac vascular smooth muscle cell differentiation|cardiac ventricle formation|cardioblast anterior-lateral migration|cardioblast migration to the midline involved in heart field formation|endothelial cell differentiation|gastrulation|growth involved in heart morphogenesis|heart looping|lateral mesoderm development|negative regulation of endodermal cell fate specification|negative regulation of mesodermal cell fate specification|negative regulation of transcription, DNA-dependent|neurogenesis|positive regulation of Notch signaling pathway|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|positive regulation of hepatocyte differentiation|positive regulation of striated muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|secondary heart field specification|sinoatrial node cell differentiation|sinus venosus morphogenesis		sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|kidney(1)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			AGCCCCGAGGGGACCCCGCGT	0.736000														12			4		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124360020	124360020	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124360020C>T	uc001uft.4	+	45	7852	c.7827C>T	c.(7825-7827)atC>atT	p.I2609I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2609	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATTCCTCCATCCTGAAAGGCC	0.438000														84			28		0	0	1	0	0
TCRAV5.1a	0	broad.mit.edu	37	14	22237033	22237033	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22237033G>A	uc001wbt.1	+	2	117	c.110_splice	c.e2-1	p.W37_splice	TRA_uc021rpa.1_Intron|TCRAV5.1a_uc021rpd.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 6, partial cds, clone: un 84-2.																		TTCTGCCTAGGGGTGAAGAGC	0.473000														16			6		0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27684701	27684701	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27684701G>A	uc001bny.1	-	20	3135	c.2886C>T	c.(2884-2886)tgC>tgT	p.C962C	MAP3K6_uc009vsw.1_Silent_p.C954C|MAP3K6_uc001bnz.1_Silent_p.C485C	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	962					activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CATAACTGAGGCAGCGCTTCG	0.607000											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			21		0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17838113	17838113	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17838113C>T	uc002nhe.1	+	4	1929	c.1920C>T	c.(1918-1920)tcC>tcT	p.S640S	MAP1S_uc010eaz.2_Silent_p.S253S|MAP1S_uc010xpv.1_Silent_p.S614S	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	640	Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	DNA binding|actin filament binding|beta-tubulin binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCACACCCTCCCCTGAGTCCC	0.726000														8			5		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46746655	46746655	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:46746655G>A	uc002eei.4	-	9	2135	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	MYLK3_uc010vge.2_Silent_p.F332F	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	673	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.F673F(1)|p.F752F(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CAGGAGTGCCGAAGTTCACCT	0.547000														45			15		0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034458	58034458	+	Silent	SNP	G	A	A	rs146836599		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58034458G>A	uc001nmq.1	-	0	1275	c.873C>T	c.(871-873)gcC>gcT	p.A291A		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CTCTCCCTACGGCCCCTTTCA	0.517000														82			34		0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43893738	43893738	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43893738G>A	uc001zsf.3	-	23	4635	c.4557C>T	c.(4555-4557)ccC>ccT	p.P1519P	STRC_uc010bdl.3_Silent_p.P746P|STRC_uc001zse.3_Silent_p.P37P	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1519					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ATCCCCGGGGGGGACCCCACA	0.527000														60			21		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1459935	1459935	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1459935G>A	uc002qwr.3	+	6	786	c.700G>A	c.(700-702)Gga>Aga	p.G234R	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.G234R|TPO_uc002qwx.3_Missense_Mutation_p.G234R|TPO_uc002qwu.3_Missense_Mutation_p.G234R|TPO_uc010yio.2_Missense_Mutation_p.G234R|TPO_uc010yip.2_Missense_Mutation_p.G234R	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	234					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GATGGCATGGGGACAATACAT	0.522000														28			11		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62026817	62026817	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62026817C>T	uc002jds.1	-	14	3002	c.2925G>A	c.(2923-2925)gaG>gaA	p.E975E		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	975					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCTCAGGGTCCTCCTCGGGGG	0.642000														9			8		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509082	71509082	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71509082G>A	uc011caw.1	+	8	2220	c.1939G>A	c.(1939-1941)Gag>Aag	p.E647K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	647					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGACCAGAAGGAGATAGTCCC	0.443000														119			49		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592720	38592720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38592720C>T	uc021wvo.1	-	26	5195	c.5143G>A	c.(5143-5145)Ggc>Agc	p.G1715S	SCN5A_uc021wvk.1_Missense_Mutation_p.G1682S|SCN5A_uc021wvl.1_Missense_Mutation_p.G1661S|SCN5A_uc021wvm.1_Missense_Mutation_p.G1697S|SCN5A_uc021wvn.1_Missense_Mutation_p.G1714S|SCN5A_uc021wvp.1_Missense_Mutation_p.G1715S|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.G1527S|SCN5A_uc021wvi.1_Missense_Mutation_p.G1581S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1715					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTGAGGAGGCCATCCCAGCCG	0.642000														108			38		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6933226	6933226	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6933226C>T	uc001qqw.1	+	1	697	c.162C>T	c.(160-162)ttC>ttT	p.F54F	GPR162_uc010sfn.1_Silent_p.F54F|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	Homo sapiens G protein-coupled receptor 162 (GPR162), transcript variant A-2, mRNA.	54						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						TGCTCTGCTTCCTAGCGGGCA	0.612000														38			6		0	0	1	0	0
GSX2	170825	broad.mit.edu	37	4	54966673	54966673	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:54966673G>A	uc010igp.1	+	0	426	c.162G>A	c.(160-162)aaG>aaA	p.K54K	PDGFRA_uc003haa.3_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	Homo sapiens GS homeobox 2 (GSX2), mRNA.	54						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CGTCCCGCAAGAGCGGCGCGT	0.716000														20			12		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31154973	31154973	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:31154973G>A	uc002rns.3	-	10	1674	c.1034C>T	c.(1033-1035)cCc>cTc	p.P345L	GALNT14_uc002rnq.3_Missense_Mutation_p.P320L|GALNT14_uc010ymr.2_Missense_Mutation_p.P305L|GALNT14_uc002rnr.3_Missense_Mutation_p.P340L|GALNT14_uc010ezo.2_Missense_Mutation_p.P307L|GALNT14_uc010ezp.1_3'UTR	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	340						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GAAAACGTAGGGGTGCTTCTT	0.602000														71			31		0	0	1	0	0
CASQ2	845	broad.mit.edu	37	1	116311118	116311118	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:116311118G>A	uc001efx.4	-	0	309	c.45C>T	c.(43-45)tcC>tcT	p.S15S	CASQ2_uc010owu.2_Silent_p.S15S	NM_001232	NP_001223	O14958	CASQ2_HUMAN	Homo sapiens calsequestrin 2 (cardiac muscle) (CASQ2), nuclear gene encoding mitochondrial protein, mRNA.	15					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCCTGCAAGAGGACAGAAAAT	0.418000														37			18		0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118516191	118516191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118516191C>T	uc001ptr.2	+	16	3592	c.3239C>T	c.(3238-3240)cCc>cTc	p.P1080L	PHLDB1_uc001pts.3_Missense_Mutation_p.P1080L|PHLDB1_uc001ptt.3_Missense_Mutation_p.P1033L|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Missense_Mutation_p.P895L|PHLDB1_uc001ptw.2_Missense_Mutation_p.P435L|PHLDB1_uc009zai.2_Missense_Mutation_p.P116L|PHLDB1_uc001ptx.2_Missense_Mutation_p.P116L|PHLDB1_uc010ryi.1_Missense_Mutation_p.P223L	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	1080										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCAGCGGGCCCCTCGGGCTTC	0.672000														98			25		0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118866123	118866123	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:118866123T>C	uc003ecb.1	+	0	1127	c.1087T>C	c.(1087-1089)Tat>Cat	p.Y363H	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.Y363H	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	363										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GCTGTCTTACTATGAAACACG	0.448000														46			16		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119934769	119934770	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:119934769_119934770GG>AA	uc001ehr.1	+	5	940_941	c.808_809GG>AA	c.(808-810)ggg>AAg	p.G270K	HAO2_uc001ehq.1_Missense_Mutation_p.G270K	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	270	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TGCTGTAAAGGGGAAAATTGAA	0.490000														64			15		0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77134191	77134191	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:77134191G>A	uc002bby.3	-	3	336	c.277C>T	c.(277-279)Cct>Tct	p.P93S	SCAPER_uc002bbx.3_5'UTR|SCAPER_uc002bbz.1_5'UTR|SCAPER_uc002bca.1_5'UTR|SCAPER_uc002bcb.1_Missense_Mutation_p.P93S|SCAPER_uc002bcc.1_Missense_Mutation_p.P93S	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	92						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATTTTCCGAGGGTGCCTTGTT	0.388000														132			10		0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155253804	155253804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155253804C>T	uc001fjz.1	+	2	756	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	HCN3_uc010pfz.1_5'UTR	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	250						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGCTGTGGTTCGCATCTTCAA	0.572000														88			31		0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15262433	15262433	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:15262433C>T	uc001rcs.3	-	3	351	c.211G>A	c.(211-213)Gag>Aag	p.E71K	RERG_uc001rct.3_Missense_Mutation_p.E71K|RERG_uc010shu.2_Missense_Mutation_p.E52K	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	71					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding	p.E71D(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						ATGTGCCCCTCCCTCTGAATG	0.463000														371			84		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88476372	88476372	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:88476372C>T	uc002bme.2	-	15	2066	c.1760G>A	c.(1759-1761)aGg>aAg	p.R587K	NTRK3_uc002bmh.2_Missense_Mutation_p.R579K|NTRK3_uc002bmf.2_Missense_Mutation_p.R587K|NTRK3_uc021sua.1_Missense_Mutation_p.R579K|NTRK3_uc010upl.1_Missense_Mutation_p.R489K|NTRK3_uc010bnh.1_Missense_Mutation_p.R579K	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	587	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTCGGCCTCCCTCTGGAAATC	0.552000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				90			6		0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110295781	110295781	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110295781G>A	uc001dyr.2	-	12	1383	c.1158C>T	c.(1156-1158)ccC>ccT	p.P386P	EPS8L3_uc001dys.2_Silent_p.P386P|EPS8L3_uc001dyq.2_Silent_p.P387P|EPS8L3_uc009wfm.2_Silent_p.P353P|EPS8L3_uc009wfn.2_Silent_p.P361P|EPS8L3_uc009wfo.2_Silent_p.P333P	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	386						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTGAGAATGTGGGTTGGTAGG	0.572000														87			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179567368	179567368	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179567368C>T	uc021vsy.1	-	103	26739	c.26514G>A	c.(26512-26514)aaG>aaA	p.K8838K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K5499K|TTN_uc010fre.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9765	Ig-like 71.						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)			TCTGTATGCGCTTTGTAAACT	0.393000														51			16		0	0	1	0	0
ADRA2A	150	broad.mit.edu	37	10	112838991	112838991	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:112838991G>A	uc001kzo.3	+	0	2202	c.1237G>A	c.(1237-1239)Gcc>Acc	p.A413T		NM_000681	NP_000672	P08913	ADA2A_HUMAN	Homo sapiens adrenergic, alpha-2A-, receptor (ADRA2A), mRNA.	398					Rho protein signal transduction|actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CACGCTCACGGCCGTCGGGTG	0.582000														108			40		0	0	1	0	0
DKFZp666K117	0	broad.mit.edu	37	13	32526950	32526950	+	RNA	SNP	C	T	T	rs151166105	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:32526950C>T	uc001utu.2	+	3		c.708C>T			DKFZp666K117_uc010tdv.2_Intron|DKFZp666K117_uc001utv.3_Non-coding_Transcript					Homo sapiens eukaryotic translation elongation factor 1 delta pseudogene 3 (EEF1DP3), non-coding RNA.																		ACAGCGAGCTCGTCGTCCGGA	0.637000														20			8		0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27744833	27744833	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27744833G>A	uc001bof.2	-	3	581	c.356C>T	c.(355-357)cCt>cTt	p.P119L	WASF2_uc010ofl.2_Missense_Mutation_p.P119L	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	Homo sapiens WAS protein family, member 2 (WASF2), transcript variant 1, mRNA.	119					G-protein signaling, coupled to cAMP nucleotide second messenger|actin cytoskeleton organization	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TTCTAAGACAGGCACTGGGAG	0.458000														91			33		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42298192	42298192	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42298192G>A	uc021sjp.1	-	3	521	c.521C>T	c.(520-522)cCg>cTg	p.P174L		NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	156					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		ACCCACCTGCGGGTTGAGTGG	0.522000														47			11		0	0	1	0	0
PANX2	56666	broad.mit.edu	37	22	50615914	50615914	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50615914C>T	uc003bjn.4	+	1	773	c.773C>T	c.(772-774)aCc>aTc	p.T258I	PANX2_uc003bjp.4_Missense_Mutation_p.T124I|PANX2_uc003bjo.4_Missense_Mutation_p.T258I	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	258					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		AACGAGTTCACCTGCGCGCTG	0.692000														9			4		0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49167284	49167284	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49167284G>A	uc003cwe.3	-	9	1692	c.1393C>T	c.(1393-1395)Ctg>Ttg	p.L465L	LAMB2_uc003cwf.1_Silent_p.L465L	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	465	Laminin EGF-like 3.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGGCAGCCCAGACGGTCACTG	0.572000														119			30		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30350440	30350440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:30350440C>T	uc002kxm.1	-	1	503	c.115G>A	c.(115-117)Gcc>Acc	p.A39T		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	39	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGGCCCTGGGCCGTCAGGGTC	0.652000														60			8		0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	721583	721583	+	Silent	SNP	C	T	T	rs144181589		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:721583C>T	uc001lqt.3	+	9	1034	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	EPS8L2_uc010qwj.1_Silent_p.L279L|EPS8L2_uc001lqu.3_Silent_p.L263L|EPS8L2_uc010qwk.2_Silent_p.L279L|EPS8L2_uc001lqv.3_Silent_p.L218L|EPS8L2_uc001lqw.3_5'UTR|EPS8L2_uc001lqx.3_5'Flank|EPS8L2_uc001lqy.3_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	263						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAACTGCGCCCTGGACGACAT	0.627000														20			13		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196716443	196716443	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:196716443G>A	uc001gtj.4	+	21	3936	c.3696G>A	c.(3694-3696)taG>taA	p.*1232*	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAAAAAGATAGAATCAATCAT	0.338000														56			20		0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380251	56380251	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56380251G>A	uc001nja.1	-	0	728	c.728C>T	c.(727-729)tCc>tTc	p.S243F	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G242C(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TGTCAGGTGGGAAGCACACGT	0.448000														99			43		0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130492962	130492962	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130492962G>A	uc004brq.1	+	13	1967	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	TTC16_uc011mai.1_Missense_Mutation_p.E621K|TTC16_uc004brr.1_Silent_p.R454R|TTC16_uc010mxn.1_Missense_Mutation_p.E230K	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	634							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TATCTGCCAGGAATACAGGAG	0.587000														37			7		0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66254783	66254783	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66254783C>T	uc001oig.1	+	4	605	c.543C>T	c.(541-543)gcC>gcT	p.A181A	DPP3_uc001oif.1_Silent_p.A181A|DPP3_uc010rpe.1_Silent_p.A170A	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	181					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TGGAAGATGCCAAATTGGCCC	0.542000														62			20		0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042757	75042757	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:75042757C>T	uc002ayr.1	+	1	742	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	226					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	p.F226F(4)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CTCATGAGTTCGTGGAGACTG	0.572000														252			38		0	0	1	0	0
SHBG	6462	broad.mit.edu	37	17	7534655	7534655	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7534655C>T	uc002gie.2	+	3	569	c.531C>T	c.(529-531)ttC>ttT	p.F177F	SHBG_uc010cmu.2_Silent_p.F119F|SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Silent_p.F119F|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Silent_p.F119F|SHBG_uc010cmz.2_Silent_p.F119F|SHBG_uc010cmv.2_Intron|SHBG_uc010cmw.2_Intron|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Silent_p.F119F|SHBG_uc002gid.3_Silent_p.F119F|SHBG_uc010cnd.2_Intron|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Silent_p.F177F|SHBG_uc010vuf.1_Silent_p.F177F|SHBG_uc010cnb.2_Silent_p.F177F|SHBG_uc010cnc.2_Intron	NM_001040	NP_001031	P04278	SHBG_HUMAN	Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA.	177	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GGCTGCTCTTCCCCGCTTCCA	0.612000														15			8		0	0	1	0	0
MDFI	4188	broad.mit.edu	37	6	41617481	41617481	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:41617481G>A	uc003oqq.4	+	3	591	c.384G>A	c.(382-384)cgG>cgA	p.R128R	MDFI_uc010jxn.3_Silent_p.R128R	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	128					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			AGGCCCACCGGAAGTTGCAGA	0.647000														141			68		0	0	1	0	0
TXNDC15	79770	broad.mit.edu	37	5	134229308	134229308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:134229308C>T	uc003lac.1	+	2	1376	c.718C>T	c.(718-720)Ctt>Ttt	p.L240F	TXNDC15_uc010jdy.1_Non-coding_Transcript	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	Homo sapiens thioredoxin domain containing 15 (TXNDC15), mRNA.	240	Thioredoxin.				cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTTCCAGCTCTTCACTTTTT	0.522000														141			48		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20432301	20432301	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:20432301G>A	uc001iqg.1	+	4	1256	c.619G>A	c.(619-621)Gat>Aat	p.D207N	PLXDC2_uc001iqh.1_Missense_Mutation_p.D158N|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	207						integral to membrane		p.F206F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GGCAAATTTCGATCCCAGTGT	0.353000														104			46		0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636695	73636695	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:73636695C>T	uc001vje.3	+	1	1282	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	KLF5_uc001vjd.3_Nonsense_Mutation_p.Q229*	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Homo sapiens Kruppel-like factor 5 (intestinal) (KLF5), mRNA.	320					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AGAGATGCTCCAGAATTTAAC	0.473000														140			36		0	0	1	0	0
DMRT2	10655	broad.mit.edu	37	9	1057157	1057157	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:1057157G>A	uc003zha.3	+	3	1770	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	DMRT2_uc003zhb.4_3'UTR|DMRT2_uc003zgy.4_Missense_Mutation_p.D368N|DMRT2_uc011llt.2_3'UTR|DMRT2_uc022bcw.1_3'UTR|DMRT2_uc011llv.2_Missense_Mutation_p.D524N	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA.	524					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		ATGTGCAAAAGACCTTTTTGT	0.393000														91			11		0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48699373	48699373	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:48699373G>A	uc001crn.2	+	9	1207	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G	SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Silent_p.G360G|SLC5A9_uc010omt.1_Silent_p.G374G|SLC5A9_uc001crp.2_Silent_p.G27G|SLC5A9_uc010omu.1_Silent_p.G27G	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	360						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GAATCTGTGGGGCCCGAGTGG	0.562000														31			6		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124392769	124392769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124392769C>T	uc001lgk.1	+	48	6179	c.6073C>T	c.(6073-6075)Ccc>Tcc	p.P2025S	DMBT1_uc001lgl.1_Missense_Mutation_p.P2015S|DMBT1_uc001lgm.1_Missense_Mutation_p.P1397S|DMBT1_uc021qaf.1_Missense_Mutation_p.P2025S|DMBT1_uc021qag.1_Missense_Mutation_p.P2015S|DMBT1_uc021qah.1_Missense_Mutation_p.P1397S|DMBT1_uc009xzz.1_Missense_Mutation_p.P2024S|DMBT1_uc010qtx.1_Missense_Mutation_p.P745S|DMBT1_uc009yab.1_Missense_Mutation_p.P728S|DMBT1_uc009yac.1_Missense_Mutation_p.P319S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2025	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCCATTCTATCCCGGGAACTA	0.507000														93			32		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183710474	183710474	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:183710474G>A	uc003ivd.1	+	23	5608	c.5533G>A	c.(5533-5535)Gga>Aga	p.G1845R		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1845					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGATTATGACGGACAGGGGAG	0.478000														22			10		0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241808421	241808421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241808421G>A	uc002waa.4	+	0	260	c.139G>A	c.(139-141)Ggg>Agg	p.G47R	AGXT_uc010zoi.1_Missense_Mutation_p.G47R	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	47					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GCAGATGATCGGGTCCATGAG	0.642000														73			36		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182558	140182558	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140182558G>A	uc003lhf.2	+	0	1776	c.1776G>A	c.(1774-1776)gcG>gcA	p.A592A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.A592A	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	605					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)			ACGTGGTAGCGAAGGTGCGCG	0.687000														93			30		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6166483	6166483	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6166483G>A	uc001amb.2	-	39	5940	c.5829C>T	c.(5827-5829)aaC>aaT	p.N1943N	CHD5_uc001alz.2_Intron|CHD5_uc001ama.2_Intron	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1943					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGGCATCTGGTTGTAGTTGA	0.672000														7			5		0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52699504	52699504	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52699504G>A	uc010snq.2	+	6	1091	c.958G>A	c.(958-960)Gag>Aag	p.E320K	KRT86_uc009zmg.3_Missense_Mutation_p.E320K|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.E320K	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	320	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCGCACCAAGGAGGAGATCAA	0.597000														87			8		0	0	1	0	0
CD8A	925	broad.mit.edu	37	2	87013055	87013055	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:87013055C>T	uc002srt.3	-	5	1585	c.696G>A	c.(694-696)gcG>gcA	p.A232A	RMND5A_uc002srs.4_Intron|CD8A_uc002srv.3_Silent_p.A232A|CD8A_uc010ytn.2_Silent_p.A273A|CD8A_uc002sru.3_Silent_p.A195A	NM_001768	NP_001759	P01732	CD8A_HUMAN	Homo sapiens CD8a molecule (CD8A), transcript variant 1, mRNA.	232					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						AGACGTATCTCGCCGAAAGGC	0.507000														168			60		0	0	1	0	0
WDR77	79084	broad.mit.edu	37	1	111983920	111983920	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111983920G>A	uc001ebb.3	-	9	1000	c.961C>T	c.(961-963)Cag>Tag	p.Q321*	WDR77_uc010owe.2_Nonsense_Mutation_p.Q257*|WDR77_uc021orq.1_Intron	NM_024102	NP_077007	Q9BQA1	MEP50_HUMAN	Homo sapiens WD repeat domain 77 (WDR77), mRNA.	321				LTTVGWDHQVVHHVVPTEPLPAPGPASVTE -> DLQVLLS RLDLRQKASPP (in Ref. 7; AAH09411).	ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGGACGACCTGATGGTCCCAG	0.527000														81			39		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74003537	74003537	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74003537C>T	uc010wss.1	-	21	6043	c.5815G>A	c.(5815-5817)Gtg>Atg	p.V1939M	EVPL_uc002jqi.2_Missense_Mutation_p.V1917M|EVPL_uc010wst.1_Missense_Mutation_p.V1387M	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1917	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCCTCGCCCACCGAGAGCCTC	0.662000														61			9		0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131191022	131191022	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:131191022C>T	uc003vqw.4	-	6	1566	c.1308G>A	c.(1306-1308)aaG>aaA	p.K436K	PODXL_uc003vqx.4_Silent_p.K404K	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	436					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CGCTTACCTCCTTTAGTTCAT	0.607000														116			50		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431856	140431856	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140431856G>A	uc003lik.1	+	0	878	c.801G>A	c.(799-801)gtG>gtA	p.V267V		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	267	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACTGCCGTGGACCTAGACG	0.517000														38			9		0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688681	55688681	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55688681G>A	uc010sph.2	-	0	336	c.336C>T	c.(334-336)ctC>ctT	p.L112L		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L112F(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGGCAGCCAGGAGGTAAAACT	0.393000														57			31		0	0	1	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129853969	129853969	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:129853969C>T	uc004bqr.1	-	3	1762	c.1262G>A	c.(1261-1263)aGa>aAa	p.R421K	RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Missense_Mutation_p.R119K	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.	421	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						ATCATGATCTCTGTCCAGGGT	0.552000														239			75		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802752	27802752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27802752G>A	uc002rkz.4	+	0	3364	c.3313G>A	c.(3313-3315)Gat>Aat	p.D1105N		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1105								p.P1104P(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AATACCCCCCGATGTGCCTCC	0.453000														103			24		0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48190922	48190922	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48190922G>A	uc010slo.2	-	6	776	c.581C>T	c.(580-582)tCt>tTt	p.S194F	HDAC7_uc001rqj.4_Missense_Mutation_p.S194F|HDAC7_uc001rqk.4_Missense_Mutation_p.S177F|HDAC7_uc009zkv.1_Missense_Mutation_p.S155F	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	155	Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding	p.S155F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GTTGGGCTCAGAGACTGCAGG	0.592000														87			40		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129278591	129278591	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:129278591C>T	uc003emx.2	-	31	5269	c.5169G>A	c.(5167-5169)aaG>aaA	p.K1723K	PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Silent_p.K391K	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1723					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TCAGAATGGCCTTGAACAGGT	0.612000														127			28		0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26672638	26672638	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26672638C>T	uc001bmd.4	-	1	661	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 4.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		ACTCGGTATTCCTCGAGGCTC	0.627000														16			3		0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33390817	33390817	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:33390817G>A	uc002nty.3	-	15	1910	c.1821C>T	c.(1819-1821)aaC>aaT	p.N607N	CEP89_uc002ntx.3_Silent_p.N360N|CEP89_uc010edg.3_Non-coding_Transcript	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.	607						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GGCCAACAAGGTTTGCCAGGT	0.428000														100			36		0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021916	5021916	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:5021916G>A	uc001qnh.3	+	1	2477	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	KCNA1_uc021qts.1_Missense_Mutation_p.E458K	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	458					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATGGAGATCGAAGAGGATAT	0.463000														139			68		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26725472	26725472	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:26725472C>T	uc001mra.2	-	4	861	c.548G>A	c.(547-549)tGg>tAg	p.W183*	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Nonsense_Mutation_p.W183*	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	183					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGCATCTGTCCACACCACTGC	0.433000														141			43		0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9047337	9047337	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:9047337G>A	uc001mhi.2	-	19	2670	c.2595C>T	c.(2593-2595)acC>acT	p.T865T	SCUBE2_uc021qdk.1_Silent_p.T341T|SCUBE2_uc001mhj.2_Silent_p.T701T	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	893	CUB.					extracellular region	calcium ion binding	p.Y865C(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TTGACCTGGAGGTGAAGGCGA	0.512000														135			48		0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9756994	9756994	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:9756994C>T	uc021wst.1	+	11	885	c.714C>T	c.(712-714)ttC>ttT	p.F238F	CPNE9_uc003bsd.3_Silent_p.F237F	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	238	C2 2.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TTGGTGAGTTCACCACCAGCT	0.567000														71			14		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97045391	97045391	+	Nonsense_Mutation	SNP	G	A	A	rs78760556		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:97045391G>A	uc021rcc.1	+	2	251	c.173G>A	c.(172-174)tGg>tAg	p.W58*				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	58										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GGTGGCTATTGGACTCTGCTT	0.383000														73			49		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152737732	152737732	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:152737732G>A	uc021zhb.1	-	38	6063	c.5840C>T	c.(5839-5841)tCc>tTc	p.S1947F	SYNE1_uc003qot.4_Missense_Mutation_p.S1954F|SYNE1_uc003qou.4_Missense_Mutation_p.S1947F|SYNE1_uc010kjb.1_Missense_Mutation_p.S1930F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1947					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCTCTGCAGGAAGTCCTTTG	0.502000										HNSCC(10;0.0054)				67			37		0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13910382	13910382	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:13910382C>T	uc001avd.3	+	0	131	c.82C>T	c.(82-84)Ctc>Ttc	p.L28F	PDPN_uc001avc.3_Missense_Mutation_p.L28F|PDPN_uc009vob.3_5'Flank|PDPN_uc009voc.3_5'Flank|PDPN_uc001ave.3_5'Flank|PDPN_uc001avf.3_5'Flank	NM_006474	NP_001006625	Q86YL7	PDPN_HUMAN	Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.	0					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GGCACCCTCCCTCTCCGGGGC	0.647000														43			22		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118375399	118375399	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118375399C>T	uc001pta.3	+	26	8806	c.8783C>T	c.(8782-8784)cCa>cTa	p.P2928L	MLL_uc001ptb.3_Missense_Mutation_p.P2931L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2928					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTAGAGCTACCATCTGATCTG	0.498000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									129			49		0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113234340	113234340	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:113234340C>T	uc001eck.3	+	5	1160	c.890C>T	c.(889-891)cCt>cTt	p.P297L	MOV10_uc001ecl.2_Missense_Mutation_p.P297L|MOV10_uc001ecn.3_Missense_Mutation_p.P297L|MOV10_uc001ecm.3_Missense_Mutation_p.P237L|MOV10_uc009wgj.1_Missense_Mutation_p.P237L	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	297					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TACTACCCACCTCCCCGCCTC	0.542000														96			33		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52942420	52942420	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52942420G>A	uc002pzk.3	+	3	1813	c.1746G>A	c.(1744-1746)agG>agA	p.R582R	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.R569R	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CGCGACATAGGAATATTCATA	0.443000														17			9		0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839269	15839269	+	Missense_Mutation	SNP	G	A	A	rs142766169	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15839269G>A	uc002nbm.2	+	0	436	c.416G>A	c.(415-417)cGg>cAg	p.R139Q		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R139W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					ATGAGCCCACGGGGCTGCGCC	0.632000														63			25		0	0	1	0	0
ZFP28	140612	broad.mit.edu	37	19	57065579	57065579	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57065579C>T	uc002qnj.3	+	7	1496	c.1425C>T	c.(1423-1425)ccC>ccT	p.P475P	BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GCAAGAAGCCCTATGAGTGCA	0.463000														64			22		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8196452	8196452	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8196452G>A	uc002mjf.3	-	13	1993	c.1976C>T	c.(1975-1977)cCt>cTt	p.P659L		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	659	TB 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTCTTTGGCAGGACAAAGCTG	0.642000														102			12		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170964567	170964567	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:170964567C>T	uc010plz.2	+	12	1386	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	C1orf129_uc001ghg.3_Missense_Mutation_p.S411F|C1orf129_uc009wvy.3_Missense_Mutation_p.S218F	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	411							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCTCTTGGTTCCTACAGGAAA	0.478000														108			41		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842169	5842169	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5842169C>T	uc010qzp.2	+	0	604	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTTATGGTCTGATGGTTGC	0.468000														227			78		0	0	1	0	0
IFNA17	3451	broad.mit.edu	37	9	21227932	21227932	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21227932G>A	uc003zos.1	-	0	290	c.241C>T	c.(241-243)Cat>Tat	p.H81Y	IFNA14_uc003zoo.1_Intron	NM_021268	NP_067091	P01571	IFN17_HUMAN	Homo sapiens interferon, alpha 17 (IFNA17), mRNA.	81					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATCATCTCATGGAGGACAGAG	0.488000														111			51		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41525800	41525800	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:41525800G>A	uc003xok.3	-	38	5463	c.5379C>T	c.(5377-5379)ttC>ttT	p.F1793F	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.F947F|ANK1_uc003xoi.3_Silent_p.F1793F|ANK1_uc003xoj.3_Silent_p.F1793F|ANK1_uc003xol.3_Silent_p.F1631F|ANK1_uc003xom.3_Silent_p.F1834F|ANK1_uc003xof.3_5'Flank|ANK1_uc011lcl.2_5'Flank|ANK1_uc003xod.3_5'Flank|ANK1_uc003xoc.3_5'Flank	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1793	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCACTTGGGTGAAGGTGTTCT	0.652000														49			33		0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143633044	143633044	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143633044C>A	uc011ktv.2	+	0	719	c.719C>A	c.(718-720)aCg>aAg	p.T240K		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GCCTTCCACACGTGTGCCTCT	0.522000														86			21		7.45023e-12	7.48055e-12	1	1	0
GRHL1	29841	broad.mit.edu	37	2	10132199	10132199	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:10132199C>T	uc002raa.3	+	10	1557	c.1386C>T	c.(1384-1386)ccC>ccT	p.P462P	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Silent_p.P273P|GRHL1_uc010yjb.2_Silent_p.P311P	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	462					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TTTTCAAACCCTTCATTGATC	0.448000														28			30		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089883	9089883	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9089883C>T	uc002mkp.3	-	0	2136	c.1932G>A	c.(1930-1932)acG>acA	p.T644T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	644	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						GGACACCGTTCGTGGCCAGAG	0.567000														94			34		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926806	1926806	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1926806C>T	uc002qxe.3	-	9	1562	c.735G>A	c.(733-735)cgG>cgA	p.R245R	MYT1L_uc002qxd.3_Silent_p.R245R|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	245					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R245R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACTCACTTTTCCGACCCAGGT	0.458000														113			42		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907435	12907435	+	Silent	SNP	C	T	T	rs2076062		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12907435C>T	uc010obf.2	-	1	934	c.708G>A	c.(706-708)gtG>gtA	p.V236V	LOC649330_uc009vno.2_Silent_p.V236V	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	236							nucleic acid binding|nucleotide binding										ACTCCATCTTCACATGAGTCT	0.478000														257			15		0	0	1	0	0
CTSL2	1515	broad.mit.edu	37	9	99798917	99798917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:99798917G>A	uc010msi.3	-	4	716	c.509C>T	c.(508-510)tCg>tTg	p.S170L	CTSL2_uc004awt.3_Missense_Mutation_p.S170L|CTSL2_uc004awu.3_Missense_Mutation_p.S115L|CTSL2_uc010msj.2_Missense_Mutation_p.S115L|CTSL2_uc010msk.3_Missense_Mutation_p.S115L	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	170						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				TTGAGGACGCGAACAGTCCAC	0.527000														77			24		0	0	1	0	0
TTC38	55020	broad.mit.edu	37	22	46669961	46669961	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:46669961C>T	uc003bhi.3	+	3	436	c.360C>T	c.(358-360)gcC>gcT	p.A120A	TTC38_uc011aqx.2_Silent_p.A120A	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	Homo sapiens tetratricopeptide repeat domain 38 (TTC38), mRNA.	120							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						AGACATTTGCCAATGGGTGAG	0.622000														37			18		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424752	125424752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125424752G>A	uc022bmz.1	+	0	758	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CTGTTTTATGGAAGCATTAGC	0.423000														166			55		0	0	1	0	0
BDKRB1	623	broad.mit.edu	37	14	96730546	96730546	+	Missense_Mutation	SNP	G	A	A	rs145002930		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:96730546G>A	uc021sbj.1	+	0	527	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	BDKRB1_uc001yfh.3_Missense_Mutation_p.R176Q	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	176					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TTCCTGCTGCGATCCATCCAA	0.612000														84			36		0	0	1	0	0
EDDM3B	64184	broad.mit.edu	37	14	21238679	21238679	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21238679G>A	uc021ron.1	+	0	370	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	EDDM3B_uc001vyd.3_Missense_Mutation_p.E124K	NM_022360	NP_071755	P56851	EP3B_HUMAN	Homo sapiens epididymal protein 3B (EDDM3B), mRNA.	124					spermatid development	extracellular region				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CAACTACATTGAATTCCATTG	0.413000														93			12		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158607824	158607824	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158607824C>T	uc001fst.1	-	36	5388	c.5189_splice	c.e36+1	p.E1730_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1730					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGCACATACTCTATCCAGGAT	0.403000														111			35		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901282	51901282	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:51901282G>A	uc002iua.2	+	0	1044	c.888G>A	c.(886-888)atG>atA	p.M296I	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	296	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCAAGGGCATGGCCACCTGCT	0.552000														74			26		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65239505	65239505	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:65239505G>A	uc001xht.3	-	24	5397	c.5346C>T	c.(5344-5346)ctC>ctT	p.L1782L	SPTB_uc001xhr.3_Silent_p.L1782L|SPTB_uc001xhs.3_Silent_p.L1782L|SPTB_uc001xhu.3_Silent_p.L1782L|SPTB_uc010aqi.3_Silent_p.L443L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1782					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGAGCTCCAGGAGGTCTGCCC	0.627000														39			26		0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101835746	101835746	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:101835746G>A	uc001kql.2	-	1	602	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	114	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.R113H(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TGAGCTGGACGATGCGCTGGT	0.612000														66			24		0	0	1	0	0
LPAR5	57121	broad.mit.edu	37	12	6729468	6729468	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6729468C>T	uc009zer.2	-	1	1228	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	LPAR5_uc001qps.2_Missense_Mutation_p.R316Q|LPAR5_uc010sff.1_Missense_Mutation_p.R316Q|LPAR5_uc021qub.1_Missense_Mutation_p.R316Q	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN	Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.	316						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						GGTCCTGGCCCGGTGCGGAGT	0.721000														9			4		0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90604284	90604284	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:90604284C>T	uc011eaa.2	+	0	97	c.97C>T	c.(97-99)Cga>Tga	p.R33*		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	33					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTTCATCTTCCGAATGCTGGT	0.507000														58			54		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756137	71756137	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:71756137G>A	uc003kce.1	-	1	1373	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTCGCACTCGGAGCAGTTGTA	0.602000														47			13		0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4909091	4909091	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:4909091C>T	uc002cyb.3	+	4	837	c.498C>T	c.(496-498)acC>acT	p.T166T	UBN1_uc010uxw.2_Silent_p.T166T|UBN1_uc002cyc.3_Silent_p.T166T	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	166	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ACTCGGGAACCCTGCAGTTTA	0.388000														105			13		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7697666	7697666	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7697666C>T	uc002giu.1	+	47	7678	c.7664C>T	c.(7663-7665)aCc>aTc	p.T2555I		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2555	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.M2554I(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCAACATGACCTTCCCCACA	0.602000														27			21		0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102825195	102825195	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102825195C>T	uc001phl.3	-	2	532	c.503G>A	c.(502-504)gGa>gAa	p.G168E		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	168					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		ACCCTTAATTCCAAAAGAGAT	0.303000														36			12		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370509	38370509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38370509G>A	uc003jlc.2	+	5	1003	c.657G>A	c.(655-657)atG>atA	p.M219I	EGFLAM_uc003jlb.2_Missense_Mutation_p.M219I	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	219	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGAGGGCAATGAATTCCCATG	0.562000														43			8		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34064165	34064165	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34064165G>A	uc001zhi.3	+	62	8931	c.8861G>A	c.(8860-8862)cGa>cAa	p.R2954Q	RYR3_uc010bar.3_Missense_Mutation_p.R2954Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2954					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTGGGTTACGAGCATTCTTT	0.443000														20			7		0	0	1	0	0
HOXA5	3202	broad.mit.edu	37	7	27183048	27183048	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:27183048C>T	uc003syn.2	-	0	240	c.179G>A	c.(178-180)gGc>gAc	p.G60D	HOXA-AS3_uc003syr.2_Intron	NM_019102	NP_061975	P20719	HXA5_HUMAN	Homo sapiens homeobox A5 (HOXA5), mRNA.	60					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S59S(1)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GTGGCCGGAGCCCGAGCGGCC	0.697000														41			15		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38357818	38357818	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38357818G>A	uc003cib.2	+	8	1609	c.1536G>A	c.(1534-1536)gcG>gcA	p.A512A	SLC22A14_uc010hhc.1_Silent_p.A512A|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	512			A -> V (in dbSNP:rs2070492).			integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTTTCAGGGCGACAGGTCTGG	0.612000														59			17		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127648455	127648455	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:127648455C>T	uc003kuu.3	-	36	5189	c.4750G>A	c.(4750-4752)Gga>Aga	p.G1584R		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1584	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCTCGAGGTCCAAACTTCAGG	0.537000														326			30		0	0	1	0	0
TCRVA15	0	broad.mit.edu	37	14	22204515	22204515	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22204515G>A	uc001wbp.2	+	0	64	c.15G>A	c.(13-15)gcG>gcA	p.A5A	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Silent_p.A5A|TCRVA15_uc021rpc.1_5'Flank					SubName: Full=Tcell alpha chain; Flags: Fragment;																		GGCAAGTGGCGAGAGTGATCG	0.522000														11			5		0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130007814	130007814	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:130007814G>A	uc010lmd.1	+	12	1726	c.1106G>A	c.(1105-1107)aGc>aAc	p.S369N	CPA5_uc003vps.2_Missense_Mutation_p.S369N|CPA5_uc003vpt.2_Intron|CPA5_uc010lme.1_Missense_Mutation_p.S369N|CPA5_uc003vpu.1_Missense_Mutation_p.S369N|AK097910_uc003vpv.1_Non-coding_Transcript	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	369					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					ATTTTTGGCAGCATCAGCACC	0.572000														53			20		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140186830	140186830	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140186830C>T	uc003lhi.2	+	0	159	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.L20F|PCDHAC2_uc011daa.2_Missense_Mutation_p.L20F	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	34					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)			CTTACTTCTTCTCCTCGCAGC	0.567000														125			53		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440502	40440502	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:40440502G>A	uc003gvc.2	-	3	1119	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	RBM47_uc003gvd.2_Missense_Mutation_p.R137C|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.R99C|RBM47_uc003gvg.1_Missense_Mutation_p.R137C	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	137	RRM 1.					nucleus	RNA binding|nucleotide binding	p.R137C(4)|p.I136I(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGGCCCGGGCGGATCTCGTAG	0.622000														42			26		0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71329576	71329576	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:71329576G>A	uc010ukf.2	+	14	2083	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	LRRC49_uc002asu.3_Missense_Mutation_p.E578K|LRRC49_uc002asx.3_Missense_Mutation_p.E544K|LRRC49_uc002asw.3_Missense_Mutation_p.E588K|LRRC49_uc002asy.3_Missense_Mutation_p.E294K|LRRC49_uc002asz.3_Missense_Mutation_p.E560K	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	588						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TATTATCAACGAAGAAAATAA	0.313000														171			50		0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17311449	17311449	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17311449C>T	uc010eak.3	+	26	4525	c.4373_splice	c.e26-1	p.A1458_splice	MYO9B_uc002nfi.3_Splice_Site_p.A1458_splice|MYO9B_uc002nfj.1_Splice_Site_p.A1458_splice|MYO9B_uc002nfl.1_Splice_Site_p.A7_splice	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1458	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCCCCTCAGCCCCCTCCGGAC	0.612000														15			8		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67092929	67092929	+	Missense_Mutation	SNP	G	A	A	rs138992705	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:67092929G>A	uc002jhw.1	-	23	3309	c.3134C>T	c.(3133-3135)tCc>tTc	p.S1045F		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1045					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CCATAGCTGGGACTTAGCATT	0.323000														52			6		0	0	1	0	0
BC039356	0	broad.mit.edu	37	1	227618340	227618340	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:227618340G>A	uc001hqv.3	+	3		c.1575G>A								Homo sapiens cDNA clone IMAGE:5270051.																		GCTGTGGGTCGAAGATATGCT	0.502000														51			15		0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75431059	75431059	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:75431059C>T	uc010rru.2	+	1	114	c.114C>T	c.(112-114)ttC>ttT	p.F38F	MOGAT2_uc001oww.1_Silent_p.F38F|MOGAT2_uc010rrv.2_5'UTR	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	38					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CTGTGGGCTTCATAGCCCTCC	0.597000														177			80		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690487	33690487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:33690487G>A	uc002hjg.4	-	1	587	c.340C>T	c.(340-342)Cct>Tct	p.P114S	SLFN11_uc010ctr.3_Missense_Mutation_p.P114S|SLFN11_uc010ctp.3_Missense_Mutation_p.P114S|SLFN11_uc010ctq.3_Missense_Mutation_p.P114S|SLFN11_uc002hjh.4_Missense_Mutation_p.P114S	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	114						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCAGGGAAAGGGCCACTGCTC	0.458000														56			11		0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411015	5411015	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5411015G>A	uc010qzc.2	+	0	409	c.387G>A	c.(385-387)atG>atA	p.M129I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	129						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTCCTCATGATGTCCTTTG	0.488000														234			75		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935629	94935629	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94935629G>A	uc001ydf.3	-	1	764	c.603C>T	c.(601-603)acC>acT	p.T201T	SERPINA9_uc001yde.3_Silent_p.T101T|SERPINA9_uc010avc.3_Silent_p.T52T|SERPINA9_uc001ydg.3_Silent_p.T165T|SERPINA9_uc001ydh.1_Silent_p.T201T|SERPINA9_uc001ydi.1_Silent_p.T165T	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.	183					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)		CCTTCCCTTGGGTCTTCTTTT	0.453000														174			58		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73040873	73040873	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73040873G>A	uc004ebn.2	+	0		c.28834G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		AACTGTGAAAGGAAGGCTTTT	0.373000														20			10		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41743987	41743987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41743987C>T	uc010ehj.3	+	6	1112	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	AXL_uc010ehi.1_Missense_Mutation_p.R308C|AXL_uc010ehk.3_Missense_Mutation_p.R308C	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	308	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TTATCACATCCGCGTGGCATG	0.647000														151			51		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50611760	50611760	+	Silent	SNP	C	T	T	rs74987565	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:50611760C>T	uc003tpg.4	-	1	225	c.24G>A	c.(22-24)agG>agA	p.R8R	DDC_uc022ade.1_Silent_p.R8R|DDC_uc003tpf.4_Silent_p.R8R|DDC_uc022adb.1_Silent_p.R8R|DDC_uc022adc.1_Silent_p.R8R|DDC_uc022add.1_Silent_p.R8R|DDC_uc022adf.1_Silent_p.R8R	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	8					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CCTTCCCTCTCCTTCGGAATT	0.522000														154			58		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071765	9071765	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9071765G>A	uc002mkp.3	-	2	15885	c.15681C>T	c.(15679-15681)gtC>gtT	p.V5227V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5229	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						TAGAAGAGTTGACCCCTGTAC	0.498000														128			19		0	0	1	0	0
GLYR1	84656	broad.mit.edu	37	16	4881996	4881996	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:4881996G>A	uc002cxx.4	-	4	558	c.521C>T	c.(520-522)cCc>cTc	p.P174L	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Missense_Mutation_p.P105L|GLYR1_uc002cya.2_Missense_Mutation_p.P174L|GLYR1_uc010uxv.1_Intron	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	174					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						ATCCTTTGGGGGCCGACCCCG	0.498000														47			19		0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122536928	122536928	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:122536928G>A	uc004etq.4	+	7	1456	c.1164G>A	c.(1162-1164)atG>atA	p.M388I	GRIA3_uc004etr.4_Missense_Mutation_p.M388I|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.M372I	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	388					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TGTATGAAATGAAAGTCAGTG	0.348000														57			60		0	0	1	0	0
HERC2P4	440362	broad.mit.edu	37	16	32163513	32163513	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:32163513G>A	uc002ecx.3	-	1		c.258C>T								Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA.																		CCTTCGGGGTGATGCCAGTCA	0.547000														72			18		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75983031	75983031	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:75983031G>A	uc002baw.3	-	2	468	c.375C>T	c.(373-375)gtC>gtT	p.V125V		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	125	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAAACCCATCGACTGACAACG	0.627000														101			39		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046766	175046766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175046766C>T	uc001gkl.1	+	1	325	c.212C>T	c.(211-213)tCg>tTg	p.S71L	TNN_uc010pmx.1_Missense_Mutation_p.S71L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	71					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GATGGGGCTTCGCTCTTGGCC	0.587000														31			11		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160952867	160952867	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:160952867C>T	uc003qtl.3	-	39	6137	c.6017G>A	c.(6016-6018)gGa>gAa	p.G2006E		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4514	Kringle 18.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.G2006R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGAAGTGACTCCTTGTAAAAT	0.463000														45			33		0	0	1	0	0
S100Z	170591	broad.mit.edu	37	5	76173582	76173582	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:76173582C>T	uc003kep.1	+	3	555	c.225C>T	c.(223-225)ttC>ttT	p.F75F	S100Z_uc003keq.4_Silent_p.F75F	NM_130772	NP_570128	Q8WXG8	S100Z_HUMAN	Homo sapiens S100 calcium binding protein Z (S100Z), mRNA.	75	EF-hand 2.						calcium ion binding			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		TTAATGAATTCGTGGTCATGG	0.378000														75			7		0	0	1	0	0
TCEB3	6924	broad.mit.edu	37	1	24082811	24082811	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24082811C>T	uc001bho.3	+	8	2158	c.2098C>T	c.(2098-2100)Cgt>Tgt	p.R700C		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	700	Activation domain (By similarity).				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CAAGCCACCTCGTGACGTCCG	0.498000														8			3		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94514490	94514490	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94514490C>T	uc001dqh.3	-	17	2781	c.2677G>A	c.(2677-2679)Gcc>Acc	p.A893T	ABCA4_uc010otn.1_Missense_Mutation_p.A819T	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	893					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)		TTTTCCAGGGCTCTTTCTTCT	0.532000														79			17		0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102849529	102849529	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:102849529G>A	uc002tbs.3	+	9	1368	c.1242G>A	c.(1240-1242)gaG>gaA	p.E414E	IL1RL2_uc002tbt.3_Silent_p.E296E	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	414	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AGGTGTTGGAGAGACAATGTG	0.448000														73			39		0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72473587	72473587	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72473587C>T	uc002jkv.3	+	3	867	c.546C>T	c.(544-546)ctC>ctT	p.L182L	CD300A_uc002jkw.3_Silent_p.L69L|CD300A_uc010dfr.3_Silent_p.L69L|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	182					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TCCCGCTGCTCCTCTCCCTGC	0.493000														43			16		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197184344	197184344	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:197184344C>T	uc002utm.1	-	8	1453	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	HECW2_uc002utl.1_Missense_Mutation_p.E68K	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	424					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.I423V(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCATTGTGTTCGATAGCATCT	0.512000														45			22		0	0	1	0	0
PBLD	64081	broad.mit.edu	37	10	70051922	70051922	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:70051922G>A	uc001jns.1	-	4	560	c.357C>T	c.(355-357)atC>atT	p.I119I	PBLD_uc001jnr.1_Silent_p.I86I|PBLD_uc001jnt.1_Silent_p.I119I|PBLD_uc001jnu.1_Silent_p.I119I|PBLD_uc001jnv.1_Silent_p.I86I	NM_022129	NP_071412	P30039	PBLD_HUMAN	Homo sapiens phenazine biosynthesis-like protein domain containing (PBLD), transcript variant 1, mRNA.	119					biosynthetic process		isomerase activity	p.I119I(3)		endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGTCCAGGACGATGCCATCCT	0.468000														44			21		0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4534035	4534035	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4534035C>T	uc002mas.3	-	1	105	c.52G>A	c.(52-54)Gac>Aac	p.D18N	PLIN5_uc002mat.1_Missense_Mutation_p.D18N	NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	18						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						ACCTGCTGGTCCTGCTCCCAC	0.612000														8			5		0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275106	29275106	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29275106C>T	uc011dln.2	+	0	640	c.640C>T	c.(640-642)Ctc>Ttc	p.L214F		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V213V(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CTCCATTGTGCTCTCCTACAT	0.468000														136			64		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113510953	113510953	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:113510953G>A	uc003iau.3	-	10	3265	c.3054C>T	c.(3052-3054)ttC>ttT	p.F1018F	C4orf21_uc003iav.3_5'Flank|C4orf21_uc003iaw.3_Silent_p.F1018F	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	1018										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATTCTACCATGAAGTCTTCAT	0.383000														85			27		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122504	12122504	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:12122504C>T	uc003nac.3	+	3	2655	c.2476C>T	c.(2476-2478)Ctg>Ttg	p.L826L	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	826					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGTGTTTCTTCTGTCTGTACC	0.418000														133			64		0	0	1	0	0
KCTD14	65987	broad.mit.edu	37	11	77727683	77727683	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:77727683C>T	uc001oyw.4	-	1	749	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	NDUFC2-KCTD14_uc021qnr.1_3'UTR|NDUFC2-KCTD14_uc021qns.1_3'UTR|NDUFC2-KCTD14_uc021qnt.1_3'UTR	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA.	242						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E242K(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AAATGGAATTCGTTTCTTTTG	0.448000														44			21		0	0	1	0	0
SOX9	6662	broad.mit.edu	37	17	70120479	70120479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:70120479G>A	uc002jiw.3	+	2	1853	c.1481G>A	c.(1480-1482)aGc>aAc	p.S494N		NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	494					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CAGACCCACAGCCCCCAGCAC	0.607000														95			10		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11666769	11666769	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11666769C>T	uc002gne.3	+	35	7076	c.7008C>T	c.(7006-7008)atC>atT	p.I2336I	DNAH9_uc010coo.3_Silent_p.I1630I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2336					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2336I(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTAAGAAGATCATTCCCATCC	0.498000														78			41		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188426	7188426	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7188426C>T	uc010sfy.2	-	8	1353	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	510	Sushi 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	CTTTGCGCTTCGTGTTCCTTG	0.612000														56			12		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108216912	108216912	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108216912G>A	uc003dxa.1	-	6	722	c.665C>T	c.(664-666)tCc>tTc	p.S222F		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	222	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						CTTTTTCCTGGATTCAATCAT	0.433000														164			25		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38692558	38692558	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38692558C>T	uc002ohk.3	+	19	5550	c.5041C>T	c.(5041-5043)Ccg>Tcg	p.P1681S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1681					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCCGGACATCCCGCCTGCACA	0.657000														46			16		0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47350726	47350726	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:47350726G>A	uc010gqb.3	+	12	1086	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	PCBP3_uc002zhp.2_Intron|PCBP3_uc002zhq.2_Missense_Mutation_p.E275K|PCBP3_uc002zhs.2_Missense_Mutation_p.E249K|PCBP3_uc002zht.2_Missense_Mutation_p.E265K	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	275					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		acactcctccgaagaagctca	0.522000														42			14		0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177690298	177690298	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:177690298C>T	uc021yiz.1	-	8	908	c.550G>A	c.(550-552)Ggg>Agg	p.G184R	COL23A1_uc021yiy.1_5'UTR|COL23A1_uc010jkt.2_Silent_p.L31L	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	184	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCCGGAGGCCCAGCAGCTCCA	0.672000														21			9		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183675643	183675643	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:183675643C>T	uc003ivd.1	+	20	4198	c.4123C>T	c.(4123-4125)Cgc>Tgc	p.R1375C	ODZ3_uc003ive.1_Missense_Mutation_p.R788C	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1375					signal transduction	integral to membrane		p.R1375C(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TCGTCAAGTTCGCATTGCTGC	0.493000														22			6		0	0	1	0	0
CD28	940	broad.mit.edu	37	2	204591684	204591684	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:204591684G>A	uc002vah.4	+	1	603	c.381G>A	c.(379-381)aaG>aaA	p.K127K	CD28_uc010zio.2_Intron|CD28_uc010ftx.3_Intron|CD28_uc002vaj.4_Non-coding_Transcript|CD28_uc002vag.1_Non-coding_Transcript	NM_006139	NP_006130	P10747	CD28_HUMAN	Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA.	127	Ig-like V-type.				T cell costimulation|cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	SH3/SH2 adaptor activity|coreceptor activity|protease binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						ACAATGAGAAGAGCAATGGAA	0.373000														72			15		0	0	1	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679361	37679361	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:37679361G>A	uc001uwm.1	-	0	441	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	11					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.E10K(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CTCCCACAACGAGTTCGGCTT	0.592000														92			41		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086625	100086625	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100086625C>T	uc003uvd.1	+	3	1440	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	NYAP1_uc003uve.1_Silent_p.S209S	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	427	Pro-rich.																TCCCCAACTCCCACAGCATGA	0.746000														7			7		0	0	1	0	0
EXD2	55218	broad.mit.edu	37	14	69702850	69702850	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:69702850C>T	uc001xky.3	+	6	1383	c.1137C>T	c.(1135-1137)taC>taT	p.Y379Y	EXD2_uc001xkt.3_Silent_p.Y254Y|EXD2_uc001xkv.3_Silent_p.Y379Y|EXD2_uc001xkw.3_Silent_p.Y254Y|EXD2_uc001xku.3_Silent_p.Y124Y|EXD2_uc001xkx.3_Silent_p.Y254Y|EXD2_uc010aqt.3_Silent_p.Y379Y|EXD2_uc010tte.2_Silent_p.Y379Y	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	254					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CTCAGTGGTACCTGGACAAAG	0.468000														137			9		0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120349057	120349057	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:120349057C>T	uc001pxl.2	+	36	4060	c.3725C>T	c.(3724-3726)cCt>cTt	p.P1242L	ARHGEF12_uc009zat.3_Missense_Mutation_p.P1223L|ARHGEF12_uc009zau.1_Missense_Mutation_p.P1139L	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	1242					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TCACACCTGCCTGTCTCAGAA	0.398000			T	MLL	AML									73			35		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99640962	99640962	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:99640962G>A	uc001yga.3	-	3	2478	c.2211C>T	c.(2209-2211)ttC>ttT	p.F737F	BCL11B_uc001ygb.3_Silent_p.F666F	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	737						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ACGACGTGGCGAAGGGCGACT	0.706000			T	TLX3	T-ALL									11			9		0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134188628	134188628	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:134188628C>T	uc009zdf.3	+	18	2243	c.1883C>T	c.(1882-1884)cCa>cTa	p.P628L	GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	628					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TGGCTTCATCCAGAAGACAAT	0.408000														16			4		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104099448	104099448	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:104099448C>T	uc001tjw.3	+	36	4125	c.3939C>T	c.(3937-3939)ttC>ttT	p.F1313F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1313					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTCCTATTTCATGGGAAGAC	0.403000														46			14		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792974	131792975	+	Silent	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:131792974_131792975GG>AA	uc003ytd.4	-	17	3673_3674	c.3417_3418CC>TT	c.(3415-3420)atcctg>atTTtg	p.1139_1140IL>IL	ADCY8_uc010mds.3_Silent_p.1008_1009IL>IL	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1139					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGTCCTTCAGGATGAGATAGG	0.500000										HNSCC(32;0.087)				99			56		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43400359	43400359	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43400359C>T	uc003ouy.1	+	2	856	c.641C>T	c.(640-642)gCt>gTt	p.A214V	ABCC10_uc003ouz.1_Missense_Mutation_p.A171V	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	214						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCTGAGGTGGCTGAAGATGGG	0.637000														100			41		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116930318	116930318	+	Silent	SNP	C	T	T	rs148339655		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116930318C>T	uc011lxl.2	+	2	483	c.483C>T	c.(481-483)ctC>ctT	p.L161L	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Silent_p.L11L	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	161	Laminin G-like.|TSP N-terminal.				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						ACCTGGCCCTCGAGCTCCGAG	0.701000														37			14		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10452333	10452333	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10452333G>A	uc003bvt.3	-	2	805	c.366C>T	c.(364-366)tcC>tcT	p.S122S	ATP2B2_uc003bvv.3_Silent_p.S122S|ATP2B2_uc003bvw.3_Silent_p.S122S|ATP2B2_uc010hdp.2_Silent_p.S122S|ATP2B2_uc010hdo.3_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	122					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGTGGTAGAAGGACAGCCCCA	0.642000														215			74		0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39888301	39888301	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39888301C>T	uc002hxm.1	-	3	796	c.784G>A	c.(784-786)Gag>Aag	p.E262K	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.E262K|HAP1_uc002hxo.1_Missense_Mutation_p.E270K|HAP1_uc002hxp.1_Missense_Mutation_p.E262K	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	262	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			tcctcatcctcctcATCAGAA	0.512000														19			12		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361945	9361945	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9361945C>T	uc002mlb.1	+	0	226	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T75T(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CCTCCACACCCCCATGTACTT	0.577000														76			21		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9014622	9014622	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9014622C>T	uc002mkp.3	-	30	38557	c.38353G>A	c.(38353-38355)Gag>Aag	p.E12785K	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12787	SEA 5.			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						TATAGCTGCTCCCTGTCCACT	0.572000														113			32		0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132399036	132399036	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:132399036C>T	uc010sck.2	-	2	495	c.445G>A	c.(445-447)Gag>Aag	p.E149K	OPCML_uc001qgu.3_Missense_Mutation_p.E142K|OPCML_uc001qgs.3_Missense_Mutation_p.E149K|OPCML_uc001qgt.3_Missense_Mutation_p.E149K|OPCML_uc010scl.2_Missense_Mutation_p.E108K	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	149	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CTGCTTCCCTCATTCACAGTG	0.463000														60			23		0	0	1	0	0
FCHSD1	89848	broad.mit.edu	37	5	141029033	141029033	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:141029033G>A	uc003llk.3	-	4	355	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	FCHSD1_uc010jgg.3_5'Flank|FCHSD1_uc003llj.3_Non-coding_Transcript	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA.	102									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGACGCCTGGAGTCGGGTT	0.637000														119			72		0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954940	30954940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30954940G>A	uc003nsh.2	+	1	1239	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.A314T	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	330	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGCCAGCACAGCCACCAACTC	0.622000														335			26		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70007795	70007795	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70007795G>A	uc001opj.3	+	17	2153	c.1848G>A	c.(1846-1848)gtG>gtA	p.V616V	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Silent_p.V558V|ANO1_uc010rqk.2_Silent_p.V325V	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	616					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TGAAGTTTGTGAATTCCTACA	0.532000														139			44		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42680109	42680109	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42680109C>T	uc010ggo.3	+	3	615	c.575C>T	c.(574-576)tCa>tTa	p.S192L	TOX2_uc002xle.4_Missense_Mutation_p.S150L|TOX2_uc010ggp.3_Missense_Mutation_p.S150L|TOX2_uc002xlf.4_Missense_Mutation_p.S201L|TOX2_uc010zwk.2_Missense_Mutation_p.S70L	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCTCCCCATCACCGCCGGGG	0.637000														24			7		0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78212139	78212139	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:78212139C>T	uc010bky.2	-	9	800	c.36G>A	c.(34-36)aaG>aaA	p.K12K						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		TCTTCTCTTCCTTTAATGTTC	0.552000														364			57		0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705633	101705633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:101705633G>A	uc021oqt.1	+	0	1093	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	S1PR1_uc001dud.2_Missense_Mutation_p.E365K|S1PR1_uc009weg.2_Missense_Mutation_p.E365K	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	365					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CCAGAAAGACGAAGGGGACAA	0.547000														81			30		0	0	1	0	0
E2F1	1869	broad.mit.edu	37	20	32264687	32264687	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:32264687C>T	uc002wzu.4	-	6	1305	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	NECAB3_uc002wzm.4_5'Flank|NECAB3_uc002wzn.4_5'Flank|NECAB3_uc002wzo.4_5'Flank	NM_005225	NP_005216	Q01094	E2F1_HUMAN	Homo sapiens E2F transcription factor 1 (E2F1), mRNA.	389	Transactivation.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|apoptosis|cell proliferation|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	Rb-E2F complex|mitochondrion	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						GAGAAGTCCTCCCGCACATGC	0.687000														6			3		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155203411	155203411	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:155203411C>T	uc021xge.1	-	21	3009	c.2732G>A	c.(2731-2733)cGa>cAa	p.R911Q	PLCH1_uc021xgd.1_Missense_Mutation_p.R911Q|PLCH1_uc021xgf.1_Missense_Mutation_p.R873Q	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	911					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCAATGGATCGCTTCCGTAC	0.458000														64			17		0	0	1	0	0
WLS	79971	broad.mit.edu	37	1	68619310	68619310	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:68619310G>A	uc001dee.3	-	4	989	c.687C>T	c.(685-687)acC>acT	p.T229T	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Silent_p.T231T|WLS_uc001deg.2_Silent_p.T140T|WLS_uc009wbf.1_Silent_p.T186T|WLS_uc021oor.1_Silent_p.T186T	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.	231	Interacts with Wnt proteins (By similarity).				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						ACCACACCTTGGTGAAGCCTC	0.463000														49			19		0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23020050	23020050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:23020050G>A	uc004daj.3	+	0	1973	c.1876G>A	c.(1876-1878)Gag>Aag	p.E626K		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	626						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AAGACGCAAGGAGTTTTATTT	0.363000														13			15		0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5247968	5247968	+	Missense_Mutation	SNP	G	A	A	rs33930476		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5247968G>A	uc001mae.1	-	1	204	c.154C>T	c.(154-156)Cct>Tct	p.P52S	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	52			P -> R (in Willamette; O(2) affinity up; unstable).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	p.P52L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	ACAGCATCAGGAGTGGACAGA	0.537000									Sickle Cell Trait					115			37		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414114	105414114	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105414114C>T	uc010axc.1	-	6	7794	c.7674G>A	c.(7672-7674)gaG>gaA	p.E2558E	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.E2458E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2558						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCGGCTCCCTCCGGCACAG	0.627000														198			93		0	0	1	0	0
AZU1	566	broad.mit.edu	37	19	828354	828354	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:828354C>T	uc002lpz.1	+	1	199	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001700	NP_001691	P20160	CAP7_HUMAN	Homo sapiens azurocidin 1 (AZU1), mRNA.	61	Hydrophobic.|Peptidase S1.|Possesses antibiotic activity.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ATGCCCGCTTCGTGATGACCG	0.672000														82			17		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42485934	42485934	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42485934G>A	uc002osh.3	-	9	1396	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	ATP1A3_uc010xwf.2_Silent_p.I425I|ATP1A3_uc010xwg.2_Silent_p.I384I|ATP1A3_uc002osg.3_Silent_p.I414I|ATP1A3_uc010xwh.2_Silent_p.I427I			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	414					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGAGCCCAGCGATGTGAGACA	0.622000														52			20		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4854665	4854665	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4854665C>T	uc001qne.1	+	4	1023	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	311						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TGACAACATTCGTTTTGACAC	0.498000														39			25		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8971824	8971824	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8971824C>T	uc002mkp.3	-	78	42972	c.42768_splice	c.e78-1	p.T14256_splice	MUC16_uc010dwi.3_Splice_Site|MUC16_uc010dwj.3_Splice_Site_p.T1056_splice|MUC16_uc021uog.1_Splice_Site	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14319	SEA 15.			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						CGGAGTCCATCCTAGGGACAG	0.507000														9			5		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439638	150439638	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150439638C>T	uc022apw.1	+	5	1163	c.1023C>T	c.(1021-1023)gtC>gtT	p.V341V	GIMAP1-GIMAP5_uc003whr.2_Silent_p.V137V	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		TGAAAGAGGTCTTTGGGACAG	0.582000														100			34		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68995622	68995622	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:68995622G>A	uc003xxv.1	+	18	2054	c.2027_splice	c.e18+1	p.E676_splice	PREX2_uc003xxu.1_Splice_Site_p.E676_splice|PREX2_uc011lez.1_Splice_Site_p.E611_splice	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	676					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAAGCCAAGAGAGTAAGTTGT	0.318000														56			19		0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95676990	95676990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:95676990C>T	uc003ygq.4	+	6	893	c.710C>T	c.(709-711)tCa>tTa	p.S237L	ESRP1_uc003ygr.4_Missense_Mutation_p.S237L|ESRP1_uc003ygs.4_Missense_Mutation_p.S237L|ESRP1_uc003ygt.4_Missense_Mutation_p.S237L|ESRP1_uc003ygu.4_Missense_Mutation_p.S237L|ESRP1_uc003ygv.3_Missense_Mutation_p.S77L|ESRP1_uc003ygw.3_Missense_Mutation_p.S77L	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	237	RRM 1.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	p.S237*(3)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGGCAGTCTTCAGATCAAGAT	0.373000														65			19		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56081758	56081758	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56081758C>T	uc001shh.3	-	23	3412	c.3192G>A	c.(3190-3192)tgG>tgA	p.W1064*	ITGA7_uc001shg.3_Nonsense_Mutation_p.W1060*|ITGA7_uc010sps.2_Nonsense_Mutation_p.W967*|ITGA7_uc001shf.3_Nonsense_Mutation_p.W38*|ITGA7_uc009znw.3_Nonsense_Mutation_p.W307*|ITGA7_uc009znx.3_Nonsense_Mutation_p.W941*	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	1104					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCTCACCTTCCACAGGAGCA	0.592000														151			49		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117306422	117306422	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:117306422C>T	uc001prh.1	-	26	4996	c.4994G>A	c.(4993-4995)gGg>gAg	p.G1665E		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1605					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)		CAGTGCCACCCCCAGTGTGGC	0.577000														61			31		0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116960640	116960640	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:116960640A>T	uc003viz.3	-	1	591	c.291T>A	c.(289-291)ttT>ttA	p.F97L	WNT2_uc003vja.3_Missense_Mutation_p.W23R	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	97					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGACCCTGCCAAAAAGGCTGT	0.577000														17			5		0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50679518	50679518	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:50679518G>A	uc003jor.3	+	0	561	c.13G>A	c.(13-15)Gga>Aga	p.G5R		NM_002202	NP_002193	P61371	ISL1_HUMAN	Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA.	5					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GGGAGACATGGGAGATCCACC	0.522000														54			20		0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109762861	109762861	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:109762861G>A	uc021xqo.1	-	29	1702	c.1646C>T	c.(1645-1647)cCt>cTt	p.P549L	COL25A1_uc003hze.1_Missense_Mutation_p.P549L|COL25A1_uc021xqp.1_Missense_Mutation_p.P549L|COL25A1_uc003hzg.3_Missense_Mutation_p.P549L|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.P307L	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	549						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTTTGGTCCAGGAAGTCCATG	0.363000														36			20		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46888190	46888191	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46888190_46888191CC>TT	uc002zhi.3	+	1	702_703	c.681_682CC>TT	c.(679-684)ctcctt>ctTTtt	p.L228F	COL18A1_uc002zhg.3_Missense_Mutation_p.L48F	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	463					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGCTGCAGCTCCTTGGGGACCC	0.673000														71			29		0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48628106	48628106	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48628106C>T	uc002ird.3	+	10	1352	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L	SPATA20_uc002irc.3_Missense_Mutation_p.P55L|SPATA20_uc002ire.3_Missense_Mutation_p.P344L|SPATA20_uc002irf.3_Missense_Mutation_p.P388L|SPATA20_uc010wmv.1_3'UTR|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	388					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GCAGACTCGCCCCCAGAGCGG	0.672000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		103			41		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45402903	45402903	+	Silent	SNP	G	A	A	rs144183694	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45402903G>A	uc001zun.3	-	7	1091	c.888C>T	c.(886-888)atC>atT	p.I296I	DUOX2_uc010bea.3_Silent_p.I296I	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	296	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CATACACAGCGATGTTCTGAG	0.607000														35			13		0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137284808	137284808	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:137284808G>A	uc003lbz.2	-	16	2464	c.1930C>T	c.(1930-1932)Cca>Tca	p.P644S	FAM13B_uc003lcb.2_Missense_Mutation_p.P548S|FAM13B_uc003lca.2_Missense_Mutation_p.P644S	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	644					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AAGCTTTTTGGAAGTGTGTTA	0.383000														119			54		0	0	1	0	0
FNDC5	252995	broad.mit.edu	37	1	33333418	33333418	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:33333418C>T	uc001bwg.3	-	3	425	c.210G>A	c.(208-210)ggG>ggA	p.G70G	FNDC5_uc021okv.1_Silent_p.G70G|FNDC5_uc001bwf.2_Silent_p.G70G	NM_001171941	NP_001165412	Q8NAU1	FNDC5_HUMAN	Homo sapiens fibronectin type III domain containing 5 (FNDC5), transcript variant 1, mRNA.	129	Fibronectin type-III.					integral to membrane|peroxisomal membrane		p.G70E(1)		breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTTGGTTCCTCCCCATCTCTT	0.567000														57			15		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45134824	45134824	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:45134824G>A	uc003com.3	-	5	1707	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	524	CUB.					extracellular region|integral to membrane|plasma membrane		p.S523R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CCTCTTGTTGGAAGCTGGGGG	0.547000														74			32		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47489498	47489498	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47489498C>T	uc001cqt.3	+	0	259	c.9C>T	c.(7-9)ttC>ttT	p.F3F	CYP4X1_uc001cqr.3_Intron|CYP4X1_uc001cqs.3_Intron	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	3						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CCATGGAATTCTCCTGGCTGG	0.697000														68			16		0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96967012	96967012	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96967012C>T	uc001kke.3	+	3	576	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	C10orf129_uc009xuu.1_Missense_Mutation_p.R61C	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	151					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CAAGAAAATTCGCTATCAATT	0.458000														74			19		0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39793585	39793585	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:39793585C>T	uc002xjp.1	+	12	1351	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	PLCG1_uc002xjo.1_Silent_p.I410I|PLCG1_uc010zwe.1_Silent_p.I36I|PLCG1_uc010ggf.3_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	410	PI-PLC X-box.				T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				ACCCAGTCATCCTGTCCATTG	0.547000														48			27		0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36351438	36351438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36351438C>T	uc002ocb.4	+	6	1009	c.797C>T	c.(796-798)tCt>tTt	p.S266F	KIRREL2_uc002obz.4_Missense_Mutation_p.S266F|KIRREL2_uc002oca.4_Missense_Mutation_p.S216F|KIRREL2_uc002ocd.4_Missense_Mutation_p.S263F	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	266	Ig-like C2-type 3.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAAGGGGGCTCTCCGGTGCTC	0.642000														69			20		0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177142399	177142399	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:177142399C>T	uc003iuq.2	-	4	691	c.577G>A	c.(577-579)Gat>Aat	p.D193N	ASB5_uc003iup.2_Missense_Mutation_p.D140N	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	193					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TGGTCAACATCTATGCCCCAG	0.443000														108			11		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303874	151303874	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151303874C>T	uc022cgz.1	-	0	219	c.219G>A	c.(217-219)gaG>gaA	p.E73E	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.E73E|MAGEA10_uc004ffm.2_Silent_p.E73E|MAGEA10_uc004ffl.3_Silent_p.E73E	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	73								p.E73D(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAGAAACCTCCTCTGGGG	0.532000														47			55		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407199	38407199	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38407199C>T	uc003jlc.2	+	7	1444	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	EGFLAM_uc003jlb.2_Silent_p.G366G|EGFLAM_uc003jle.2_Silent_p.G132G|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	366	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCTGGGGGGGCTCGCGATGCC	0.537000														50			22		0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133805017	133805017	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:133805017C>T	uc004bzz.3	-	1	734	c.489G>A	c.(487-489)aaG>aaA	p.K163K	FIBCD1_uc011mcc.2_Silent_p.K163K|FIBCD1_uc011mcd.1_Silent_p.K171K	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	163					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TGCCATGCCCCTTCCGCAGCC	0.701000														25			5		0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57868667	57868667	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57868667C>T	uc001sod.3	-	15	2105	c.1912G>A	c.(1912-1914)Gat>Aat	p.D638N	ARHGAP9_uc001sny.3_Non-coding_Transcript|ARHGAP9_uc001snz.3_Missense_Mutation_p.D364N|ARHGAP9_uc001soa.3_Missense_Mutation_p.D237N|ARHGAP9_uc001sob.3_Missense_Mutation_p.D548N|ARHGAP9_uc001soc.3_Missense_Mutation_p.D548N|ARHGAP9_uc001soe.1_Missense_Mutation_p.D627N	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	567	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCTCTTTTATCCACAGCAGCA	0.532000														65			16		0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764073	110764073	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:110764073G>A	uc003vft.4	+	3	2291	c.1245G>A	c.(1243-1245)atG>atA	p.M415I	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.M415I|LRRN3_uc003vfs.4_Missense_Mutation_p.M415I|LRRN3_uc022akc.1_Missense_Mutation_p.M415I	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	415	LRRCT.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCAGGGACATGATGGAAATTT	0.443000														88			27		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215802311	215802311	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:215802311G>A	uc002vew.3	-	50	7685	c.7465C>T	c.(7465-7467)Cac>Tac	p.H2489Y	ABCA12_uc002vev.3_Missense_Mutation_p.H2171Y|ABCA12_uc010zjn.2_Missense_Mutation_p.H1416Y	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2489	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCTTCAAGTGAACTTTGACA	0.368000														64			21		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002628	122002628	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122002628G>A	uc003eew.4	+	6	2295	c.1857G>A	c.(1855-1857)acG>acA	p.T619T	CASR_uc003eev.4_Silent_p.T609T	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	609					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)	TGTCGTGGACGGAGCCCTTTG	0.527000														56			14		0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20045034	20045034	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:20045034C>T	uc002non.3	+	3	1446	c.1270C>T	c.(1270-1272)Ccc>Tcc	p.P424S		NM_031218	NP_112495	P35789	ZNF93_HUMAN	Homo sapiens zinc finger protein 93 (ZNF93), mRNA.	424						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TGGAGAGAAACCCTACAAATG	0.408000														88			21		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65263284	65263284	+	Silent	SNP	G	A	A	rs150377252		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:65263284G>A	uc001xht.3	-	9	1383	c.1332C>T	c.(1330-1332)ctC>ctT	p.L444L	SPTB_uc001xhr.3_Silent_p.L444L|SPTB_uc001xhs.3_Silent_p.L444L|SPTB_uc001xhu.3_Silent_p.L444L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	444					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.R443H(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTGGGCCACGAGGCGCTGGT	0.587000														76			14		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553026	140553026	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140553026G>A	uc003lit.3	+	0	784	c.610G>A	c.(610-612)Gag>Aag	p.E204K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	204	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATCGGGAAGAGATACCAGA	0.507000														88			9		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88583166	88583166	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:88583166C>T	uc001pcq.3	-	1	1019	c.819G>A	c.(817-819)gtG>gtA	p.V273V	GRM5_uc009yvm.3_Silent_p.V273V	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	273					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AGCAGGCCACCACCCGGGCCT	0.552000														62			28		0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19752564	19752564	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:19752564C>T	uc002zqa.1	+	5	897	c.768C>T	c.(766-768)gcC>gcT	p.A256A	TBX1_uc002zqb.3_Silent_p.A256A|TBX1_uc002zqc.3_Silent_p.A256A	NM_080647	NP_542378	O43435	TBX1_HUMAN	Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA.	256					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A256V(1)		breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				AGAAATATGCCGAGGAGAACT	0.542000														102			39		0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155488849	155488849	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155488849C>T	uc003ioa.4	+	3	634	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	FGB_uc010ipv.3_Missense_Mutation_p.R140C	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	199					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R199C(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TCGTGTGCTTCGTTCAATCCT	0.393000														111			52		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168175434	168175434	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:168175434C>T	uc010jjg.3	-	19	2563	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	SLIT3_uc003mab.3_Missense_Mutation_p.E715K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	715					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTACTCTCCTCGTTGCCTGTG	0.632000														49			8		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2377216	2377216	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:2377216C>T	uc002wfy.1	+	3	550	c.489C>T	c.(487-489)atC>atT	p.I163I	TGM6_uc010gal.1_Silent_p.I163I	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	163					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACAGCGGCATCATCTTCCGAG	0.617000														51			17		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809042	18809042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:18809042C>T	uc001bax.3	+	0	1619	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C	KLHDC7A_uc009vpg.3_Missense_Mutation_p.R305C	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	523						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCGCTGGCTCGCATGCCCCC	0.672000														100			38		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7682521	7682521	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7682521G>A	uc002mgu.4	+	17	3600	c.3499G>A	c.(3499-3501)Gaa>Aaa	p.E1167K	CAMSAP3_uc002mgv.4_Missense_Mutation_p.E1140K|CAMSAP3_uc002mgw.3_Missense_Mutation_p.E270K	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	1140	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CAAGGTGAACGAACCGCAGAA	0.597000														35			11		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3174736	3174736	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:3174736C>T	uc021xkv.1	+	30	4189	c.4044C>T	c.(4042-4044)tcC>tcT	p.S1348S		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1348					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTGGCTCCTCCAGTGTGAGGC	0.587000														80			31		0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4356353	4356353	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:4356353G>A	uc002fxt.3	+	7	1010	c.966G>A	c.(964-966)ggG>ggA	p.G322G	SPNS3_uc002fxu.3_Silent_p.G195G	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	322					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GCGTCATTGGGGTCATCTTGG	0.587000														58			36		0	0	1	0	0
NFX1	4799	broad.mit.edu	37	9	33294597	33294597	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:33294597C>T	uc003zsr.3	+	1	358	c.205C>T	c.(205-207)Cat>Tat	p.H69Y	NFX1_uc011lnw.2_Missense_Mutation_p.H69Y|NFX1_uc003zso.3_Missense_Mutation_p.H69Y|NFX1_uc003zsp.2_Missense_Mutation_p.H69Y|NFX1_uc010mjr.2_Missense_Mutation_p.H69Y|NFX1_uc003zsq.3_Missense_Mutation_p.H69Y	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	69					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CTCTGCTGTTCATCAGCATAG	0.458000														154			45		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21031193	21031193	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:21031193C>T	uc001bdr.4	-	4	988	c.870G>A	c.(868-870)tcG>tcA	p.S290S	KIF17_uc001bds.4_Silent_p.S290S	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	290					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCGTCAGCTTCGAGTCACGGT	0.617000														67			26		0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30602580	30602580	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:30602580G>A	uc001iva.4	-	8	1770	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	MTPAP_uc001ivb.4_Silent_p.F699F	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.	569					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TGGTTTTTGTGAAATTTTCTG	0.363000														132			55		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32037544	32037544	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32037544G>A	uc003nzl.2	-	14	5575	c.5373C>T	c.(5371-5373)tcC>tcT	p.S1791S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1873	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGAGGCCCACGGAGTTCTGGG	0.617000														24			6		0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862124	25862124	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:25862124G>A	uc003nfk.4	-	3	547	c.437C>T	c.(436-438)tCt>tTt	p.S146F	SLC17A3_uc003nfi.4_Intron|SLC17A3_uc011djz.1_Missense_Mutation_p.S146F|SLC17A3_uc011dka.1_Intron	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	290					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TGCAAACAAAGAAATGCCAAC	0.483000														15			6		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1437219	1437219	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1437219G>A	uc002qwr.3	+	3	275	c.189G>A	c.(187-189)aaG>aaA	p.K63K	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Silent_p.K63K|TPO_uc002qww.3_Silent_p.K63K|TPO_uc002qwx.3_Silent_p.K63K|TPO_uc002qwu.3_Silent_p.K63K|TPO_uc010yio.2_Silent_p.K63K|TPO_uc010yip.2_Silent_p.K63K	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	63					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GAAACCTCAAGAAAAGAGGAA	0.363000														65			32		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6175052	6175052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:6175052G>A	uc003mwv.3	-	11	1631	c.1508C>T	c.(1507-1509)gCt>gTt	p.A503V	F13A1_uc011dib.2_Missense_Mutation_p.A440V	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	503					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGGCTTTTTAGCTCCGTACAT	0.463000														54			16		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148258	34148258	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:34148258G>A	uc004ddg.3	-	0	2190	c.2138C>T	c.(2137-2139)cCt>cTt	p.P713L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	713								p.P713T(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTCAATCAAAGGTTCATCACT	0.423000														37			53		0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81304583	81304583	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:81304583G>A	uc001xux.2	-	9	1060	c.889C>T	c.(889-891)Caa>Taa	p.Q297*	CEP128_uc010asz.2_5'Flank|CEP128_uc001xuz.2_Nonsense_Mutation_p.Q297*|CEP128_uc001xuy.1_Nonsense_Mutation_p.Q155*	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	297						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CCTTCTGATTGATTCAATAAC	0.333000														100			12		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75019754	75019754	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75019754T>A	uc001xqa.3	-	4	1420	c.1033A>T	c.(1033-1035)Acg>Tcg	p.T345S		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	345					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ATTTTCTCCGTGAGGTTCAGC	0.582000														30			6		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47894564	47894564	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:47894564G>A	uc003tny.2	-	29	4809	c.4775C>T	c.(4774-4776)tCc>tTc	p.S1592F		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1592					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGGGTTTTCGGAAAGCTCAGT	0.388000														94			32		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73821098	73821098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:73821098G>A	uc011dyh.2	+	6	1444	c.1097G>A	c.(1096-1098)aGa>aAa	p.R366K	KCNQ5_uc003pgj.4_Missense_Mutation_p.R366K|KCNQ5_uc011dyi.2_Missense_Mutation_p.R366K|KCNQ5_uc010kat.3_Missense_Mutation_p.R366K|KCNQ5_uc003pgk.3_Missense_Mutation_p.R366K|KCNQ5_uc011dyj.2_Missense_Mutation_p.R366K|KCNQ5_uc011dyk.2_Missense_Mutation_p.R125K	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	366					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTTGAGAAAAGAAGGAACCCA	0.398000														86			51		0	0	1	0	0
ANKRD22	118932	broad.mit.edu	37	10	90588376	90588376	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:90588376G>A	uc001kfj.4	-	2	629	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA.	87										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		GATAATCAATGAAGGTAAATT	0.323000														120			50		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51497470	51497470	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:51497470C>T	uc003pah.1	-	64	11834	c.11558G>A	c.(11557-11559)aGg>aAg	p.R3853K		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3853					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTCTCCTTCCTAGTCACAGG	0.478000														81			24		0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71389609	71389609	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71389609C>T	uc003hfk.1	+	3	252	c.163C>T	c.(163-165)Cca>Tca	p.P55S	AMTN_uc010ihy.1_Missense_Mutation_p.P54S	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Homo sapiens amelotin (AMTN), mRNA.	55					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			AAGTCTGATACCATTAACACA	0.388000														108			52		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215831647	215831647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:215831647G>A	uc002vew.3	-	38	6029	c.5809C>T	c.(5809-5811)Ctt>Ttt	p.L1937F	ABCA12_uc002vev.3_Missense_Mutation_p.L1619F|ABCA12_uc010zjn.2_Missense_Mutation_p.L864F	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1937					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.S1936S(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAAGCTGGAAGGGAGTGATAG	0.383000														62			32		0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54107574	54107574	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54107574G>A	uc001sef.3	-	12	1846	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	CALCOCO1_uc001see.3_Nonsense_Mutation_p.R69*|CALCOCO1_uc010som.2_Nonsense_Mutation_p.R483*|CALCOCO1_uc010son.2_Nonsense_Mutation_p.R445*|CALCOCO1_uc009znd.3_Nonsense_Mutation_p.R568*|CALCOCO1_uc001seg.3_Nonsense_Mutation_p.R393*|CALCOCO1_uc001seh.2_Nonsense_Mutation_p.R568*	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	568	C-terminal AD (CTNNB1 binding site) (By similarity).				Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.P567R(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GAAGCCTCTCGAGGCCCAGCA	0.607000														119			10		0	0	1	0	0
C1orf114	57821	broad.mit.edu	37	1	169394081	169394081	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169394081C>T	uc001gga.1	-	1	253	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	C1orf114_uc001gfz.1_Missense_Mutation_p.E29K|C1orf114_uc009wvq.1_Missense_Mutation_p.E29K|C1orf114_uc001ggb.3_Missense_Mutation_p.E29K|C1orf114_uc001ggc.1_Missense_Mutation_p.E29K	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	29										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TTTTCATTTTCATTAATTAAC	0.299000														84			19		0	0	1	0	0
SIT1	27240	broad.mit.edu	37	9	35650207	35650207	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35650207C>T	uc003zxe.1	-	3	428	c.331G>A	c.(331-333)Gat>Aat	p.D111N	SIT1_uc022bgl.1_Missense_Mutation_p.D32N	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	Homo sapiens signaling threshold regulating transmembrane adaptor 1 (SIT1), mRNA.	111					regulation of T cell activation|signal transduction	integral to plasma membrane	SH2 domain binding|kinase binding			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGAGTTGGATCCTGCTGGTCT	0.617000														45			21		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596346	24596346	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:24596346C>T	uc011djo.2	-	2	1056	c.556G>A	c.(556-558)Ggc>Agc	p.G186S	KIAA0319_uc011djp.2_Missense_Mutation_p.G141S|KIAA0319_uc003neh.1_Missense_Mutation_p.G186S|KIAA0319_uc011djq.1_Missense_Mutation_p.G177S|KIAA0319_uc011djr.1_Missense_Mutation_p.G186S	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	186					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GGCAGTAGGCCCCAGTCCGTG	0.617000														35			17		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74276190	74276190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74276190G>A	uc002jrd.1	-	11	4354	c.4174C>T	c.(4174-4176)Cgg>Tgg	p.R1392W	QRICH2_uc010dgw.1_Missense_Mutation_p.R236W	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1392							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GATTTCCACCGATCCTCCAGC	0.672000														76			25		0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137727218	137727218	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:137727218C>T	uc003lcy.1	+	7	2097	c.1897C>T	c.(1897-1899)Cct>Tct	p.P633S	KDM3B_uc010jew.1_Missense_Mutation_p.P289S|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	633					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	p.E632Q(1)		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						CCGAGAAGAGCCTTCTAATCC	0.493000														194			36		0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154471640	154471640	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154471640G>A	uc001ffb.3	-	1	690	c.666C>T	c.(664-666)gtC>gtT	p.V222V	SHE_uc001ffc.3_Non-coding_Transcript	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	222										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CGTTCTCTCCGACTCTCTCTG	0.433000														74			30		0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57004472	57004472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57004472C>T	uc001njo.3	-	0	456	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	3						integral to plasma membrane	G-protein coupled receptor activity	p.E2K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TCACCACCTTCCTCCATGCTG	0.562000														38			21		0	0	1	0	0
POTED	317754	broad.mit.edu	37	GL000213.1	138805	138805	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000213.1:138805G>A	uc011mfl.1	-	0	531	c.483C>T	c.(481-483)ctC>ctT	p.L161L		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	161						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CAGTGTCCCTGAGCATGACGA	0.577000														27			31		0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7245290	7245290	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7245290C>T	uc002ggd.2	+	2	341	c.135C>T	c.(133-135)ctC>ctT	p.L45L		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	45	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GCACTGGTCTCCTGGAAAGTG	0.612000														51			30		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141359167	141359167	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141359167C>T	uc002tvj.1	-	41	7813	c.6841G>A	c.(6841-6843)Gat>Aat	p.D2281N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2281					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.W2280S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACAGTGTATCCCAGGCTCTG	0.453000										TSP Lung(27;0.18)				32			11		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39134430	39134430	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:39134430G>A	uc003jls.3	-	7	1764	c.1697C>T	c.(1696-1698)gCt>gTt	p.A566V	FYB_uc003jlt.3_Missense_Mutation_p.A566V|FYB_uc003jlu.3_Missense_Mutation_p.A566V|FYB_uc011cpl.2_Missense_Mutation_p.A576V	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	566	SH3.				NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			AATCTCTACAGCAGTTGTTTT	0.323000														40			14		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176314308	176314308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176314308C>T	uc003mfa.3	-	11	1723	c.1631G>A	c.(1630-1632)gGg>gAg	p.G544E	HK3_uc003mez.3_Missense_Mutation_p.G100E	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	544	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTCGTGCCCCCGAGGTCCAG	0.647000														39			18		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114277763	114277763	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:114277763C>T	uc003ibe.4	+	37	8089	c.7989C>T	c.(7987-7989)tcC>tcT	p.S2663S	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.S2678S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2630					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.S2663Y(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGTCTTCCTCCTCAGAAAGTG	0.478000														69			21		0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32500794	32500794	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:32500794C>T	uc003amc.3	+	13	1937	c.1687C>T	c.(1687-1689)Ctg>Ttg	p.L563L	SLC5A1_uc011alz.2_Silent_p.L436L	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	563					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GTGTTGGAGCCTGCGCAACAG	0.498000														57			11		0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56524877	56524877	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56524877C>T	uc001sjr.3	+	3	739	c.621C>T	c.(619-621)atC>atT	p.I207I	ESYT1_uc001sjq.3_Silent_p.I207I	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	207						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AAGAGCAGATCCTGCTGGACT	0.517000														51			5		0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37007241	37007241	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:37007241C>T	uc001uvr.4	+	1	530	c.180C>T	c.(178-180)gcC>gcT	p.A60A	CCNA1_uc010teo.2_Silent_p.A16A|CCNA1_uc010abq.3_Silent_p.A16A|CCNA1_uc010abp.3_Silent_p.A16A|CCNA1_uc001uvs.4_Silent_p.A59A|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	60					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CTACAGTGGCCCGAGGTCCCG	0.587000														85			13		0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153217341	153217341	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:153217341G>A	uc004fjp.3	-	19	5739	c.5211C>T	c.(5209-5211)gcC>gcT	p.A1737A		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	1737					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACCGTGCCGGCCAGCTCAT	0.657000														7			22		0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9199886	9199886	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:9199886G>A	uc001mhl.3	-	7	1956	c.1699C>T	c.(1699-1701)Ccc>Tcc	p.P567S	DENND5A_uc010rbw.2_Missense_Mutation_p.P567S|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	567	dDENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCAGGTAGGGCTCAGGCTGA	0.453000														27			11		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20620505	20620505	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:20620505G>A	uc003gpr.1	+	36	4667	c.4463G>A	c.(4462-4464)gGa>gAa	p.G1488E	SLIT2_uc003gps.1_Missense_Mutation_p.G1480E	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1488	CTCK.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGGTGTGCAGGAGGGCAGTGC	0.532000														33			20		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5744379	5744379	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:5744379G>A	uc001qnm.2	-	16	1827	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	590						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGATGACCACGAGGTTGATGA	0.532000														18			5		0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63974589	63974589	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:63974589G>A	uc001srp.1	-	18	1934	c.1753C>T	c.(1753-1755)Cgt>Tgt	p.R585C	DPY19L2_uc010sso.1_Missense_Mutation_p.R32C	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	585					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TTCTCAAAACGAACTCTGCGA	0.358000														59			13		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24880576	24880576	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24880576G>A	uc001wpf.4	+	5	2880	c.2562G>A	c.(2560-2562)acG>acA	p.T854T		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	854					DNA integration	integral to membrane	DNA binding	p.T854M(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACTTTCTGACGAAGCTACACT	0.552000											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		185			95		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256102	240256102	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240256102G>A	uc010pye.2	+	0	918	c.693G>A	c.(691-693)gaG>gaA	p.E231E	FMN2_uc010pyd.2_Silent_p.E231E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	231					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCGCCGAGGAGCCTGCAGCGC	0.736000														14			5		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115350393	115350393	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115350393C>T	uc001lal.3	-	39	5064	c.4900G>A	c.(4900-4902)Gac>Aac	p.D1634N	NRAP_uc009xyb.3_Missense_Mutation_p.D387N|NRAP_uc001laj.3_Missense_Mutation_p.D1634N|NRAP_uc001lak.3_Missense_Mutation_p.D1599N	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1634						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGCTCCGGGTCGCAGGTGGGC	0.667000														52			15		0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96312912	96312912	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:96312912C>T	uc004atw.3	+	11	2238	c.2213C>T	c.(2212-2214)gCc>gTc	p.A738V	FAM120A_uc004aty.3_Missense_Mutation_p.A519V|FAM120A_uc004atz.3_Missense_Mutation_p.A387V|FAM120A_uc010mrg.3_Missense_Mutation_p.A51V	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	738						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGCTAGATGCCTTCCTGGCT	0.557000														39			18		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111078149	111078149	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:111078149G>A	uc004epl.1	-	7	2815	c.1896_splice	c.e7+1	p.A632_splice	TRPC5_uc004epm.1_Splice_Site_p.A632_splice	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	632					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCTACTCACGGCAATAAGCT	0.443000														43			77		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80782861	80782861	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:80782861C>T	uc010ysh.2	+	10	1589	c.1584C>T	c.(1582-1584)ctC>ctT	p.L528L	CTNNA2_uc010yse.2_Silent_p.L528L|CTNNA2_uc010ysf.2_Silent_p.L528L|CTNNA2_uc010ysg.2_Silent_p.L528L|CTNNA2_uc010ysi.2_Silent_p.L160L	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	528					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGATAGCCCTCCAAGAGGGCG	0.483000														84			29		0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554830	40554830	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:40554830G>A	uc003xnr.3	-	3	429	c.283C>T	c.(283-285)Caa>Taa	p.Q95*	ZMAT4_uc003xns.3_Nonsense_Mutation_p.Q95*	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	95						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			ATTTTGCCTTGATAATGGGAA	0.517000														123			43		0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100123421	100123421	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:100123421C>T	uc010avs.3	+	2	1052	c.987C>T	c.(985-987)ttC>ttT	p.F329F	HHIPL1_uc001ygl.1_Silent_p.F329F	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	329					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCTACATCTTCACTGGAGATG	0.507000														357			147		0	0	1	0	0
NUBP2	10101	broad.mit.edu	37	16	1838710	1838710	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1838710C>T	uc002cmw.4	+	6	900	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	NUBP2_uc002cmx.4_Missense_Mutation_p.P130S	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	Homo sapiens nucleotide binding protein 2 (NUBP2), mRNA.	271						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						CGCGTGCCTCCCCTGACTAAG	0.662000														23			5		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197411416	197411416	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197411416G>A	uc001gtz.3	+	10	4208	c.3999G>A	c.(3997-3999)gaG>gaA	p.E1333E	CRB1_uc010poz.2_Silent_p.E1309E|CRB1_uc009wza.3_Silent_p.E1221E|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.E797E|CRB1_uc010ppd.2_Silent_p.E814E|CRB1_uc001gub.1_3'UTR	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1333	EGF-like 19; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGCGCTGCGAGGTGGACGTAA	0.488000														221			63		0	0	1	0	0
ZNF141	7700	broad.mit.edu	37	4	367194	367194	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:367194C>T	uc003gaa.2	+	3	1145	c.968C>T	c.(967-969)tCc>tTc	p.S323F	ZNF141_uc003gab.3_Intron	NM_003441	NP_003432	Q15928	ZN141_HUMAN	Homo sapiens zinc finger protein 141 (ZNF141), mRNA.	323					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TTTAATAGGTCCACAACCCTT	0.378000														101			36		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841548	8841548	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8841548C>T	uc010xkg.2	+	0	158	c.158C>T	c.(157-159)tCc>tTc	p.S53F		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTGTGGACTCCCGGCTCCAT	0.547000														114			44		0	0	1	0	0
TMPPE	643853	broad.mit.edu	37	3	33134930	33134930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:33134930G>A	uc003cfk.2	-	1	970	c.758C>T	c.(757-759)tCg>tTg	p.S253L	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.S116L|TMPPE_uc021wux.1_Missense_Mutation_p.S253L	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN	Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.	253						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						CCGCAGGACCGAGGCTTCTGA	0.547000														97			24		0	0	1	0	0
C14orf102	55051	broad.mit.edu	37	14	90770546	90770546	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:90770546G>A	uc001xyi.2	-	4	971	c.738C>T	c.(736-738)ccC>ccT	p.P246P	C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.2_Silent_p.P15P	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	246							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		GCTCAGATGAGGGAGGTTCAG	0.448000														119			43		0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149853837	149853837	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:149853837G>A	uc010zbu.2	+	17	2478	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twt.3_Missense_Mutation_p.D247N|KIF5C_uc002twu.1_5'Flank	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	695					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GCGGTTGCAGGATGCTGAAGA	0.423000														31			10		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21221496	21221496	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21221496C>T	uc010bwn.1	-	2	368	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	ZP2_uc002dii.2_Missense_Mutation_p.E57K|ZP2_uc010bwo.3_Missense_Mutation_p.E96K	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	57					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)		ATTTCCCTTTCATCGCAAGTG	0.478000														78			25		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16878368	16878368	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:16878368G>A	uc001ioo.3	-	62	10098	c.10046C>T	c.(10045-10047)tCa>tTa	p.S3349L		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3349	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGAAATCTTGAATTTCCGTG	0.378000														83			28		0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17941319	17941319	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17941319G>A	uc002nhn.4	-	21	3189	c.3089C>T	c.(3088-3090)cCc>cTc	p.P1030L	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.P1030L	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	1030	Protein kinase 2.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CACGGCCGAGGGGCTGCAGCT	0.617000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									17			7		0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37005709	37005709	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:37005709G>A	uc002oee.2	-	3	1354	c.432C>T	c.(430-432)gcC>gcT	p.A144A	ZNF260_uc010eey.2_Silent_p.A144A|ZNF260_uc002oef.2_Silent_p.A144A|ZNF260_uc002oed.2_Silent_p.A144A|ZNF260_uc021uti.1_Silent_p.A144A	NM_001012756	NP_001159510	Q3ZCT1	ZN260_HUMAN	Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA.	144					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TGCCGTTAAAGGCTTTGCCAC	0.393000														166			75		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10071223	10071223	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10071223C>T	uc002mmq.1	-	66	5188	c.5102G>A	c.(5101-5103)gGa>gAa	p.G1701E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1701	Fibrillar collagen NC1.				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)			CTTCGTCTGTCCTTTCCGGAG	0.577000														103			40		0	0	1	0	0
LINC00477	144360	broad.mit.edu	37	12	24736816	24736816	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:24736816G>A	uc001rgb.1	-	0		c.287C>T								Homo sapiens long intergenic non-protein coding RNA 477 (LINC00477), non-coding RNA.																		CCTAGGAAACGAAGTAAAAAG	0.527000														65			8		0	0	1	0	0
SPINK13	153218	broad.mit.edu	37	5	147661689	147661689	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:147661689C>T	uc003lpc.3	+	3	334	c.131C>T	c.(130-132)cCa>cTa	p.P44L	AK054753_uc003lpb.1_Intron|SPINK13_uc010jgt.3_Non-coding_Transcript	NM_001040129	NP_001035218	Q1W4C9	ISK13_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 13 (putative) (SPINK13), mRNA.	44	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						ATGTATATCCCACTGGACCCT	0.438000														111			36		0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18152433	18152433	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:18152433G>A	uc001bat.3	+	2	736	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	174						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CAAGACGCTGGAGTTCGCCGG	0.617000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			5		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26915838	26915838	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:26915838C>T	uc003jgs.1	-	2	592	c.423G>A	c.(421-423)ccG>ccA	p.P141P	CDH9_uc010iug.3_Silent_p.P141P	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	141	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTCCGATTCCGGTTCCACCT	0.398000														186			68		0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141370273	141370273	+	Silent	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:141370273A>C	uc003yvh.2	-	8	1680	c.1665T>G	c.(1663-1665)gcT>gcG	p.A555A	TRAPPC9_uc003yvj.2_Silent_p.A457A|TRAPPC9_uc003yvi.1_Silent_p.A448A	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	457					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TCTGGACCGCAGCCCAGCCTC	0.512000														36			22		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175471	57175471	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57175471C>T	uc010ygn.2	-	1	1323	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.									p.D388N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TTGCCGCAGTCGTGGCAGGGG	0.701000														14			12		0	0	1	0	0
GOLGA7	51125	broad.mit.edu	37	8	41355058	41355058	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:41355058C>T	uc003xnu.3	+	2	220	c.142C>T	c.(142-144)Cga>Tga	p.R48*	GOLGA7_uc022auf.1_Nonsense_Mutation_p.R48*|GOLGA7_uc003xnw.3_Nonsense_Mutation_p.R48*	NM_016099	NP_057183	Q7Z5G4	GOGA7_HUMAN	Homo sapiens golgin A7 (GOLGA7), transcript variant 1, mRNA.	48						Golgi membrane				breast(1)|large_intestine(1)	2	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			AGAAACAGTTCGAACTCTAAA	0.348000														137			76		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547288	43547288	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43547288G>A	uc002zag.1	+	17	3850	c.3850G>A	c.(3850-3852)Gag>Aag	p.E1284K	UMODL1_uc002zad.1_Missense_Mutation_p.E1084K|UMODL1_uc002zae.1_Missense_Mutation_p.E1212K|UMODL1_uc002zaf.1_Missense_Mutation_p.E1156K|UMODL1_uc002zal.1_Missense_Mutation_p.E106K|UMODL1_uc010gpa.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1156						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGTCCTGACGGAGTGCTGGGC	0.567000														64			31		0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10251308	10251308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10251308C>T	uc003bve.1	+	3	536	c.460C>T	c.(460-462)Ctc>Ttc	p.L154F		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	154					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|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GCCGGCCTTTCTCCAGCCTCC	0.602000														232			116		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31322961	31322961	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:31322961G>A	uc003jhe.2	+	11	2279	c.1919G>A	c.(1918-1920)cGa>cAa	p.R640Q		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	640					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.R640Q(2)|p.R640*(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGGCGGCAGCGAAAAAAAGAG	0.453000														63			30		0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27302010	27302010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27302010C>T	uc002rii.4	+	0	576	c.77C>T	c.(76-78)cCt>cTt	p.P26L	EMILIN1_uc010eyq.2_Missense_Mutation_p.P26L	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	26					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTACCCTCCTCGAGGTTTC	0.716000														25			12		0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47384223	47384223	+	Missense_Mutation	SNP	C	T	T	rs71737295		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:47384223C>T	uc003crd.3	+	8	1367	c.1241C>T	c.(1240-1242)aCc>aTc	p.T414I	KLHL18_uc011bav.2_Missense_Mutation_p.T302I	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	414										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ACAGTGGTGACCTCGATGAGC	0.507000														48			18		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762775	176762775	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176762775G>A	uc001gkz.3	+	19	6264	c.5100G>A	c.(5098-5100)ctG>ctA	p.L1700L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1700	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.T1699N(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGACACTCTGGAGCACTGGA	0.473000														66			24		0	0	1	0	0
LDLRAP1	26119	broad.mit.edu	37	1	25891695	25891695	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:25891695C>T	uc001bkl.4	+	7	893	c.779C>T	c.(778-780)tCg>tTg	p.S260L	LDLRAP1_uc009vrw.3_Non-coding_Transcript|LDLRAP1_uc009vrx.3_Missense_Mutation_p.S90L	NM_015627	NP_056442	Q5SW96	ARH_HUMAN	Homo sapiens low density lipoprotein receptor adaptor protein 1 (LDLRAP1), mRNA.	260	AP-2 complex binding.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCGTTTTCGAGGTAATGC	0.562000														127			55		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103091352	103091352	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:103091352C>T	uc001phn.1	+	57	9091	c.8947_splice	c.e57-1	p.P2983_splice	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Splice_Site_p.P2983_splice	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2983	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)		TCTCTTTTAGCCTTTAGTCAA	0.303000														91			38		0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71853601	71853601	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:71853601G>A	uc001jqm.3	+	5	1047	c.588_splice	c.e5+1	p.K196_splice		NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	196	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						TGGGACAGAAGGTAACAAAGA	0.418000														33			11		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128498536	128498536	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128498536G>A	uc003vnz.4	+	47	8346	c.8137G>A	c.(8137-8139)Gaa>Aaa	p.E2713K	FLNC_uc003voa.4_Missense_Mutation_p.E2680K	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2713	Interaction with INPPL1.|Self-association site, tail (By similarity).				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGGGGTGACGAAAGTGTCCC	0.542000														33			20		0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45728116	45728116	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45728116C>T	uc002pay.1	-	5	501	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	154										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GCAGATGCTTCCCGGGCCGGC	0.652000														17			7		0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75408412	75408412	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:75408412G>A	uc001jut.4	-	3	1150	c.998C>T	c.(997-999)tCc>tTc	p.S333F	SYNPO2L_uc001jus.4_Missense_Mutation_p.S109F	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	333						cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GTCCAGCTCGGACTCACTCGT	0.627000														63			16		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139889761	139889761	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:139889761C>T	uc003lfs.2	+	21	4253	c.4099C>T	c.(4099-4101)Cgc>Tgc	p.R1367C	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.R1386C|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.R1367C|ANKHD1-EIF4EBP3_uc003lft.1_Missense_Mutation_p.R578C|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.R847C|ANKHD1-EIF4EBP3_uc003lfv.1_Missense_Mutation_p.R444C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.R106C|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.R5C	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1367						cytoplasm|nucleus	RNA binding	p.R1367H(1)		breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCAGCATTTCGCAAGGTAAT	0.388000														55			28		0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75115153	75115153	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:75115153C>T	uc002snd.3	+	15	4269	c.2343C>T	c.(2341-2343)atC>atT	p.I781I		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	781	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CAAGGGGCATCTTTGAAACCA	0.512000														130			53		0	0	1	0	0
TSPAN9	10867	broad.mit.edu	37	12	3387589	3387589	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:3387589C>T	uc001qlp.3	+	3	249	c.66C>T	c.(64-66)ctC>ctT	p.L22L	TSPAN9_uc021qtd.1_Silent_p.L22L	NM_006675	NP_006666	O75954	TSN9_HUMAN	Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.	22						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			CTTTCCAGCTCTGTGGCTGTG	0.602000														116			42		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61463546	61463546	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61463546G>A	uc002ljl.3	+	4	479	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	SERPINB7_uc002ljm.3_Missense_Mutation_p.R128Q|SERPINB7_uc010xet.2_Missense_Mutation_p.R111Q|SERPINB7_uc010dqg.3_Missense_Mutation_p.R128Q	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	128					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AAAGTGGAGCGAGTTGACTTT	0.328000														62			11		0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113588899	113588899	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113588899C>T	uc002tii.1	-	5	654	c.567G>A	c.(565-567)ttG>ttA	p.L189L	IL1B_uc002tih.1_Silent_p.L158L	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	189					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	p.V188M(1)		breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TATCATCTTTCAACACGCAGG	0.468000														166			69		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22134094	22134094	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22134094C>T	uc010tmd.2	+	0	798	c.798C>T	c.(796-798)tcC>tcT	p.S266S		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CCAGCTTCTCCATTGACAAGG	0.507000														54			15		0	0	1	0	0
HTATIP2	10553	broad.mit.edu	37	11	20404709	20404709	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:20404709C>T	uc009yia.1	+	5	753	c.687C>T	c.(685-687)gcC>gcT	p.A229A	HTATIP2_uc009yib.1_Silent_p.A229A|HTATIP2_uc001mpx.2_Silent_p.A263A|HTATIP2_uc001mpz.2_Silent_p.A229A	NM_006410	NP_006401	Q9BUP3	HTAI2_HUMAN	Homo sapiens HIV-1 Tat interactive protein 2, 30kDa (HTATIP2), transcript variant 2, mRNA.	229					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity			large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AGAACAAGGCCATCCATGACC	0.493000														25			7		0	0	1	0	0
ACOT7	11332	broad.mit.edu	37	1	6445578	6445578	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6445578G>A	uc001ams.3	-	0	306	c.149C>T	c.(148-150)cCc>cTc	p.P50L	ACOT7_uc001amt.3_Intron|ACOT7_uc001amu.3_Intron	NM_181864	NP_863654	O00154	BACH_HUMAN	Homo sapiens acyl-CoA thioesterase 7 (ACOT7), transcript variant hBACHb, mRNA.	50						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GGCTCCACAGGGTGGGAGATC	0.652000														156			47		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593759	179593759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179593759C>T	uc021vsy.1	-	61	15499	c.15274G>A	c.(15274-15276)Gat>Aat	p.D5092N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1753N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6019	Ig-like 31.						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)			TAGACATTATCATCTTCATCA	0.408000														21			6		0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27781201	27781201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:27781201C>T	uc002dow.3	+	20	4019	c.3995C>T	c.(3994-3996)tCc>tTc	p.S1332F		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	1332										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTCCACGTCTCCCTGGATGGC	0.567000														136			68		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113547238	113547238	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113547238C>T	uc022blv.1	+	11	1662	c.1528C>T	c.(1528-1530)Ctt>Ttt	p.L510F	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.L421F|MUSK_uc022blu.1_Missense_Mutation_p.L411F	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	510					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ATTTGTGCTTCTTACCATAAC	0.373000														123			40		0	0	1	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340392	29340392	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29340392C>T	uc002kxa.2	-	0	452	c.233G>A	c.(232-234)cGa>cAa	p.R78Q		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.	78					transport	integral to membrane|mitochondrial inner membrane											ATACAAATTTCGAAATCCATC	0.463000														85			43		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72299375	72299376	+	Missense_Mutation	DNP	CC	TT	TT	rs144093353		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72299375_72299376CC>TT	uc001jrd.4	+	14	2046_2047	c.1765_1766CC>TT	c.(1765-1767)ccc>TTc	p.P589F	KIAA1274_uc001jre.4_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	589										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						AAGCGAGCCTCCCCCAGGCAAG	0.653000														51			18		0	0	1	0	0
TSHB	7252	broad.mit.edu	37	1	115576077	115576077	+	Missense_Mutation	SNP	G	A	A	rs121918669		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:115576077G>A	uc001efs.1	+	1	162	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K		NM_000549	NP_000540	P01222	TSHB_HUMAN	Homo sapiens thyroid stimulating hormone, beta (TSHB), mRNA.	32					G-protein coupled receptor protein signaling pathway|anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity	p.E32K(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|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)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		AATGCACATCGAAAGGAGAGA	0.423000														139			42		0	0	1	0	0
NPIPL2	440348	broad.mit.edu	37	16	74425514	74425514	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:74425514C>A	uc010vmt.1	+	5	686	c.685C>A	c.(685-687)Ctt>Att	p.L229I				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	290										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						TCTTGCTCCTCTTCCACCCTC	0.502000														311			21		2.65835e-16	2.67134e-16	1	1	0
OR10Z1	128368	broad.mit.edu	37	1	158577148	158577148	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158577148G>A	uc010pio.2	+	0	920	c.920G>A	c.(919-921)gGg>gAg	p.G307E		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GCTTTCAGAGGGAGATTGCTG	0.468000														157			60		0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11577595	11577595	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11577595G>A	uc002mry.1	-	1	437	c.57C>T	c.(55-57)ggC>ggT	p.G19G	ELAVL3_uc002mrx.1_Silent_p.G19G	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	19					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCAgggccgggccggccgggc	0.652000														29			9		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126226912	126226912	+	Silent	SNP	C	T	T	rs139167502	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:126226912C>T	uc010hsi.2	-	4	492	c.438G>A	c.(436-438)tcG>tcA	p.S146S	UROC1_uc003eiz.2_Silent_p.S146S	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	146					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CTGTCATCTTCGACAAGTAGA	0.587000														134			21		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560363	44560363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:44560363C>T	uc002lcr.1	-	0	1626	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	425					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTAGCCGAATCCCAGGACTCA	0.547000														98			41		0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628876	71628876	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:71628876C>T	uc004agy.3	-	0	164	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	45	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	p.F44F(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CTGAGCCGTTCGAACTGATCC	0.602000														55			13		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933664	62933664	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62933664G>A	uc001nwr.1	-	6	1137	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_3'UTR	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	379					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TCTGCAACAGGAAAACATTGT	0.478000														64			25		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39019006	39019006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39019006C>T	uc002oit.3	+	73	11015	c.10885C>T	c.(10885-10887)Cgg>Tgg	p.R3629W	RYR1_uc002oiu.3_Missense_Mutation_p.R3624W|RYR1_uc002oiv.1_Missense_Mutation_p.R544W|RYR1_uc010xuf.1_Missense_Mutation_p.R549W	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3629					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R3629W(2)|p.R3628C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAAACAGCGCCGGCGGGCAGT	0.612000														75			21		0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75852018	75852018	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:75852018C>T	uc001oxc.3	+	14	1902	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	UVRAG_uc010rrw.2_Missense_Mutation_p.S453F|UVRAG_uc001oxd.3_Missense_Mutation_p.S182F|UVRAG_uc010rrx.2_Missense_Mutation_p.S182F|UVRAG_uc010rry.2_Missense_Mutation_p.S110F	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	554					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TTGGATACCTCCTTGGACTTC	0.502000														53			16		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38723748	38723748	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38723748G>A	uc021yzh.1	+	10	1517	c.1408_splice	c.e10-1	p.V470_splice	DNAH8_uc003ooe.2_Splice_Site_p.V253_splice	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCAATGTTAGGTTTCCATGGC	0.303000														52			23		0	0	1	0	0
ARHGEF38	54848	broad.mit.edu	37	4	106534592	106534592	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:106534592C>T	uc003hxv.2	+	2	582	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	ARHGEF38_uc003hxu.3_Nonsense_Mutation_p.Q146*	NM_001242729	NP_001229658	Q9NXL2	ARH38_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 38 (ARHGEF38), transcript variant 1, mRNA.	146	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						GTCCGTGCATCAGATATCAGC	0.438000														157			12		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913201	6913201	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6913201G>A	uc010rau.2	-	0	531	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTCACAAAAGAAATGAGCAA	0.493000														54			9		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639174	7639174	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7639174G>A	uc001qsz.3	-	9	2507	c.2379C>T	c.(2377-2379)tcC>tcT	p.S793S	CD163_uc001qta.3_Silent_p.S793S|CD163_uc009zfw.2_Silent_p.S826S	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	793	SRCR 7.				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						GCCAAATGCGGGATTCTTTTC	0.507000														170			67		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30740710	30740710	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30740710C>T	uc002dze.1	+	26	6329	c.5944C>T	c.(5944-5946)Cct>Tct	p.P1982S	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P1777S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1982					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)			TGTCATGCCTCCTGTGGAGGC	0.567000														32			14		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120148155	120148155	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:120148155G>A	uc001txj.2	-	38	5028	c.4972C>T	c.(4972-4974)Ctg>Ttg	p.L1658L	CIT_uc001txh.2_Silent_p.L1135L|CIT_uc001txi.2_Silent_p.L1616L	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1616	CNH.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AAGACATTCAGGGCGTAGAGC	0.498000														66			44		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100680532	100680532	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100680532C>T	uc003uxp.1	+	2	5888	c.5835C>T	c.(5833-5835)acC>acT	p.T1945T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1945	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T1945N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAATCAACACCCTTTCAACAA	0.502000														375			146		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33015577	33015577	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:33015577C>T	uc001wrq.3	+	3	1888	c.1718C>T	c.(1717-1719)tCc>tTc	p.S573F	AKAP6_uc010aml.3_Missense_Mutation_p.S570F	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	573					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCAGAAACATCCAGTTCACCA	0.443000														93			37		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84527518	84527518	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:84527518G>A	uc002bjz.4	+	8	952	c.728_splice	c.e8-1	p.R243_splice	ADAMTSL3_uc002bjy.1_Splice_Site_p.R243_splice|ADAMTSL3_uc010bmt.1_Splice_Site_p.R243_splice	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	243						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTTTCCCAGGAGAAGAAAAT	0.398000														117			21		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021043	132021043	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:132021043G>A	uc002tsn.2	+	14	2067	c.2015G>A	c.(2014-2016)aGa>aAa	p.R672K	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.R272K|POTEE_uc002tsl.2_Missense_Mutation_p.R254K|POTEE_uc010fmy.1_Missense_Mutation_p.R136K	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	672							ATP binding										AGCCAGCTAAGAGAAAAGAAA	0.363000														45			6		0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108032498	108032498	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:108032498G>A	uc001pjz.4	-	16	3417	c.3315C>T	c.(3313-3315)tcC>tcT	p.S1105S	NPAT_uc010rvv.2_Silent_p.S161S	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	1105					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GTTTTAAGGTGGAGGACACAT	0.433000														66			26		0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74401595	74401596	+	Splice_Site	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74401595_74401596GG>AA	uc002jrm.4	-	2	542	c.477_splice	c.e2+1	p.T159_splice	UBE2O_uc002jrn.4_Splice_Site_p.T159_splice	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	159							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CAGGACTCACGGTGGATCGCAT	0.604000														10			4		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120989131	120989131	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:120989131G>A	uc010rzo.2	+	5	907	c.907G>A	c.(907-909)Gag>Aag	p.E303K		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	303	VWFC.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.E303K(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TAGCCCCTACGAGGTGTGCGA	0.537000														67			27		0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444075	5444075	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5444075C>T	uc010qzd.2	+	0	735	c.645C>T	c.(643-645)ctC>ctT	p.L215L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L214V(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCTCTGCTCATTGTGATCT	0.493000														151			46		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39046462	39046462	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:39046462C>T	uc003thb.2	+	1	156	c.13C>T	c.(13-15)Ctt>Ttt	p.L5F	POU6F2_uc022acb.1_Missense_Mutation_p.L5F|AK023033_uc003tha.1_Intron	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	5					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GAGTGCTCTTCTTCAGGTATT	0.348000														104			15		0	0	1	0	0
TREML1	340205	broad.mit.edu	37	6	41117391	41117391	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:41117391G>A	uc011duc.2	-	5	931	c.887C>T	c.(886-888)tCg>tTg	p.S296L	TREML1_uc003opx.3_3'UTR|TREML1_uc011dud.2_Missense_Mutation_p.S185L	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 1 (TREML1), mRNA.	296					calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGCCCACACGAGGTCCCTCC	0.547000														77			29		0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60785797	60785798	+	Missense_Mutation	DNP	CC	TT	TT	rs111507268	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60785797_60785798CC>TT	uc001nqq.3	+	11	2099_2100	c.1874_1875CC>TT	c.(1873-1875)tcc>tTT	p.S625F	CD6_uc001nqp.3_Missense_Mutation_p.S624F|CD6_uc001nqs.3_Intron|CD6_uc001nqr.3_Intron|CD6_uc001nqt.3_Intron	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	625					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AGCACCTCATCCGGGGAGTGGT	0.624000														19			8		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27517295	27517296	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:27517295_27517296GG>TA	uc002dov.2	-	9	1734_1735	c.1694_1695CC>TA	c.(1693-1695)tcc>tTA	p.S565L	GTF3C1_uc002dou.3_Missense_Mutation_p.S565L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	565						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGGAGACAAAGGACACGTTGGG	0.589000														82			50		0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82880378	82880378	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:82880378C>T	uc001ozx.4	+	7	3346	c.3001C>T	c.(3001-3003)Caa>Taa	p.Q1001*	PCF11_uc010rsu.1_Nonsense_Mutation_p.Q1132*	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	1001	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCCTTTAGTCCAACAAGGAGG	0.507000														42			16		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82467539	82467539	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82467539C>T	uc003uhx.2	-	14	14506	c.14217G>A	c.(14215-14217)ggG>ggA	p.G4739G	PCLO_uc003uhv.2_Silent_p.G4739G|PCLO_uc003uht.1_Silent_p.G190G|PCLO_uc003uhu.1_Silent_p.G169G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4610	Ser-rich.				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						CTTACCCTCTCCCTGGAAGAA	0.328000														18			8		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974824	20974824	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20974824G>A	uc010vbe.2	-	52	10382	c.10382C>T	c.(10381-10383)cCt>cTt	p.P3461L	DNAH3_uc010vbd.2_Missense_Mutation_p.P896L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3461					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCAAGACCCAGGGAGTTGCTC	0.532000														53			9		0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3486894	3486894	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3486894C>T	uc002cvd.3	-	3	989	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	Homo sapiens zinc finger protein 597 (ZNF597), mRNA.	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TTAGTAGATTCGTAGGTGTTT	0.433000														138			30		0	0	1	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74698746	74698746	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:74698746G>A	uc004ecg.3	-	2	716	c.238C>T	c.(238-240)Cca>Tca	p.P80S	ZDHHC15_uc004ech.3_Missense_Mutation_p.P71S|ZDHHC15_uc011mqo.1_Non-coding_Transcript|ZDHHC15_uc004eci.2_Missense_Mutation_p.P71S	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	Homo sapiens zinc finger, DHHC-type containing 15 (ZDHHC15), transcript variant 1, mRNA.	80						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						GGCTGCTGTGGGAGTGTAAAG	0.348000														9			13		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18393374	18393374	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:18393374G>A	uc003wza.3	-	15	3126	c.3023C>T	c.(3022-3024)tCg>tTg	p.S1008L	PSD3_uc003wyx.4_Missense_Mutation_p.S337L|PSD3_uc003wyy.3_Missense_Mutation_p.S474L|PSD3_uc003wyz.3_Missense_Mutation_p.S309L	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	1009					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACTCGAGTGCGACTTCTTCAG	0.498000														66			29		0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72926672	72926672	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72926672G>A	uc010wrp.2	+	5	1034	c.942G>A	c.(940-942)gtG>gtA	p.V314V		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	314						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGTTCAAGTGAGCGGGGACG	0.602000														37			7		0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15115135	15115135	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15115135G>A	uc001int.2	+	8	1118	c.864G>A	c.(862-864)ggG>ggA	p.G288G	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Silent_p.G235G	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	235					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.G288R(1)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						AGCTTCCAGGGGGTCACTTTT	0.343000														43			20		0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30885930	30885930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:30885930G>A	uc003cep.2	-	6	727	c.680C>T	c.(679-681)tCt>tTt	p.S227F	GADL1_uc003ceq.1_Missense_Mutation_p.S227F	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	227					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	CCCAAGAAAAGAGGCTGCCTT	0.433000														152			52		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033554	95033554	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:95033554G>A	uc010avd.3	+	2	1282	c.1008G>A	c.(1006-1008)atG>atA	p.M336I	SERPINA4_uc001ydk.3_Missense_Mutation_p.M299I|SERPINA4_uc001ydl.3_Missense_Mutation_p.M299I	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	299					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.R335M(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		AGATGCTAATGAGGTGGAACA	0.438000														53			18		0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43259160	43259160	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43259160G>A	uc002ouo.2	-	3	1066	c.968C>T	c.(967-969)cCa>cTa	p.P323L	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.P323L|PSG8_uc010ein.3_Missense_Mutation_p.P201L|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	323	Ig-like C2-type 2.					extracellular region		p.Y322D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CAGGGTGACTGGGTAACTGCG	0.478000														244			43		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189689737	189689737	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:189689737C>T	uc011bsk.2	-	11	2147	c.1759G>A	c.(1759-1761)Gat>Aat	p.D587N	LEPREL1_uc003fsg.3_Missense_Mutation_p.D406N	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	587	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	p.L586F(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCCTCTGGATCCAACAAACAG	0.453000														34			14		0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89735049	89735049	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:89735049C>T	uc001dnc.3	-	3	727	c.190_splice	c.e3+1	p.G64_splice	GBP5_uc001dnd.3_Splice_Site_p.G64_splice|GBP5_uc001dne.1_Splice_Site_p.G64_splice	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	64						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TACCACTCACCCTTGTTCTTC	0.507000														113			49		0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96315551	96315551	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:96315551C>T	uc003kmv.1	+	1	1243	c.729C>T	c.(727-729)atC>atT	p.I243I	LNPEP_uc003kmw.1_Silent_p.I229I	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	243					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		ATGGACAGATCGCCATTGTTG	0.408000														78			5		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108013806	108013806	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:108013806C>T	uc001tmk.1	+	10	3017	c.2496C>T	c.(2494-2496)atC>atT	p.I832I	BTBD11_uc009zut.1_Silent_p.I713I|BTBD11_uc001tmj.3_Silent_p.I832I|BTBD11_uc001tml.1_Silent_p.I369I	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	832						integral to membrane	DNA binding	p.R831Q(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTTTGCGGATCGCCTTCCAGC	0.607000														30			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083067	9083067	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9083067G>A	uc002mkp.3	-	0	8952	c.8748C>T	c.(8746-8748)acC>acT	p.T2916T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2917	Ser-rich.|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						AGTCTGGAATGGTGTTCAGGG	0.483000														45			17		0	0	1	0	0
INO80C	125476	broad.mit.edu	37	18	33060487	33060487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:33060487G>A	uc010dmt.3	-	3	422	c.305C>T	c.(304-306)cCc>cTc	p.P102L	INO80C_uc002kyw.1_Missense_Mutation_p.P66L|INO80C_uc002kyx.4_Missense_Mutation_p.P11L|INO80C_uc002kyy.4_Missense_Mutation_p.P66L	NM_001098817	NP_001092287	Q6PI98	IN80C_HUMAN	Homo sapiens INO80 complex subunit C (INO80C), transcript variant 1, mRNA.	66					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						AAACTCAGAGGGCACCATTTT	0.408000														152			17		0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25936266	25936266	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:25936266C>T	uc010crg.3	+	16	2233	c.1788C>T	c.(1786-1788)ctC>ctT	p.L596L	KSR1_uc002gzm.3_Silent_p.L376L|KSR1_uc002gzn.3_5'Flank	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	732					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E595*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACAAAGATCTCAAATCTAAGA	0.532000														20			25		0	0	1	0	0
LALBA	3906	broad.mit.edu	37	12	48963801	48963801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48963801C>T	uc001rrt.3	-	0	29	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_002289	NP_002280	P00709	LALBA_HUMAN	Homo sapiens lactalbumin, alpha- (LALBA), mRNA.	1					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						CAAAGAACCTCATTTTGGCTA	0.483000														81			41		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229949	87229949	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:87229949G>A	uc003ydq.1	-	2	1027	c.929C>T	c.(928-930)tCa>tTa	p.S310L	SLC7A13_uc003ydr.1_Missense_Mutation_p.S301L	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	310						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TGGTCTCGATGATTTAAATAT	0.383000														153			52		0	0	1	0	0
BDKRB1	623	broad.mit.edu	37	14	96730073	96730073	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:96730073C>T	uc021sbj.1	+	0	54	c.54C>T	c.(52-54)ctC>ctT	p.L18L	BDKRB1_uc001yfh.3_Silent_p.L18L	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	18					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		AGAGCCAGCTCTTCCCTCAAA	0.517000														21			12		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4732836	4732836	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:4732836G>A	uc003bqc.3	+	30	4142	c.3792G>A	c.(3790-3792)gaG>gaA	p.E1264E	ITPR1_uc021wsi.1_Silent_p.E1270E|ITPR1_uc021wsj.1_Silent_p.E1255E|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1279					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGATCCTGGAGGCAGTAACCA	0.443000														22			3		0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750032	142750032	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142750032C>T	uc011ksv.2	+	0	595	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CTGGGACTTTCTGATGGCCTT	0.532000														153			72		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282402	152282402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152282402C>T	uc001ezu.1	-	2	4996	c.4960G>A	c.(4960-4962)Ggc>Agc	p.G1654S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1654	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACGAGTGCCTGATTGTCTG	0.562000									Ichthyosis					398			145		0	0	1	0	0
C18orf26	284254	broad.mit.edu	37	18	52262300	52262300	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:52262300C>T	uc002lfq.1	+	1	312	c.266C>T	c.(265-267)tCa>tTa	p.S89L		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	89						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		CTTGCACATTCAAGATGTCTA	0.448000														69			55		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906709	129906709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:129906709G>A	uc001lke.3	-	12	3590	c.3395C>T	c.(3394-3396)cCa>cTa	p.P1132L	MKI67_uc001lkf.3_Missense_Mutation_p.P772L|MKI67_uc009yav.1_Missense_Mutation_p.P707L|MKI67_uc009yaw.1_Missense_Mutation_p.P282L	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1132	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)				TTCTGGTGGTGGAGATTTGCA	0.463000														395			158		0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54872709	54872709	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54872709G>A	uc002qfk.1	-	2	488	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L	LAIR1_uc002qfl.1_Silent_p.L60L|LAIR1_uc002qfm.1_Silent_p.L59L|LAIR1_uc002qfn.1_Silent_p.L59L|LAIR1_uc010yex.2_Silent_p.L53L|LAIR1_uc002qfo.3_Silent_p.L42L	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	60	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCCCTCTCCAGGCGGAATGTT	0.562000														150			64		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77677753	77677753	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77677753C>T	uc011cbx.2	+	7	5814	c.4861C>T	c.(4861-4863)Cac>Tac	p.H1621Y	SHROOM3_uc003hkg.3_Missense_Mutation_p.H1399Y	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1621					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CATGAGCGTTCACGCCCAACT	0.537000														66			34		0	0	1	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172582164	172582164	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:172582164C>T	uc002uha.1	+	7	713	c.548C>T	c.(547-549)cCa>cTa	p.P183L	DYNC1I2_uc002uhb.1_Missense_Mutation_p.P157L|DYNC1I2_uc010zds.1_Missense_Mutation_p.P175L|DYNC1I2_uc002uhc.3_Missense_Mutation_p.P157L|DYNC1I2_uc002uhd.1_Missense_Mutation_p.P177L|DYNC1I2_uc002uhe.1_Missense_Mutation_p.P183L|DYNC1I2_uc002uhf.1_Missense_Mutation_p.P157L|DYNC1I2_uc010zdt.1_Missense_Mutation_p.P175L|DYNC1I2_uc002uhg.1_Missense_Mutation_p.P98L|DYNC1I2_uc010zdu.1_5'Flank	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 2 (DYNC1I2), mRNA.	183					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			GCTCCTAAACCACCTATTGAA	0.254000														18			7		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43936053	43936053	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:43936053G>A	uc003bdy.2	-	27	4147	c.3833C>T	c.(3832-3834)cCc>cTc	p.P1278L	EFCAB6_uc003bdz.2_Missense_Mutation_p.P1126L|EFCAB6_uc010gzi.2_Missense_Mutation_p.P1126L	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTCCTGAGTGGGCAATGAGAG	0.612000														72			6		0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116037787	116037787	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:116037787C>T	uc001lbl.1	+	6	1002	c.681C>T	c.(679-681)atC>atT	p.I227I	VWA2_uc001lbk.1_Silent_p.I227I|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	227						extracellular region				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)		GCTCGGCCATCTGCTCCAGCG	0.647000														35			4		0	0	1	0	0
GNL1	2794	broad.mit.edu	37	6	30521163	30521163	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30521163G>A	uc003nqh.3	-	5	2163	c.772C>T	c.(772-774)Cct>Tct	p.P258S	GNL1_uc011dmi.2_Missense_Mutation_p.P120S|GNL1_uc011dmj.2_Missense_Mutation_p.P256S|GNL1_uc011dmk.2_Intron	NM_005275	NP_005266	P36915	GNL1_HUMAN	Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA.	258					T cell mediated immunity|response to DNA damage stimulus|signal transduction	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGGTCCCGAGGAAAAGAGGTG	0.572000														166			52		0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648104	130648104	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:130648104C>T	uc001uii.3	+	0	1101	c.617C>T	c.(616-618)tCg>tTg	p.S206L	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	206					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		AAGAGCGCGTCGTGCGCGCCG	0.726000														22			4		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671263	39671263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:39671263C>T	uc021wjc.1	+	0	80	c.80C>T	c.(79-81)cCc>cTc	p.P27L	KCNJ15_uc002ywv.3_Missense_Mutation_p.P27L|KCNJ15_uc002yww.3_Missense_Mutation_p.P27L|KCNJ15_uc002ywx.3_Missense_Mutation_p.P27L	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	27					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GCCAACAGACCCCGCGTCATG	0.552000														50			26		0	0	1	0	0
WFDC3	140686	broad.mit.edu	37	20	44416581	44416581	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44416581G>A	uc002xpf.1	-	3	336	c.252C>T	c.(250-252)tcC>tcT	p.S84S	WFDC3_uc002xpj.1_Non-coding_Transcript|WFDC3_uc002xph.1_Non-coding_Transcript|WFDC3_uc010ghh.1_Non-coding_Transcript	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN	Homo sapiens WAP four-disulfide core domain 3 (WFDC3), mRNA.	84	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity	p.S84>?(2)		endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				TTTTCAAACAGGATTGTTTCC	0.463000														64			26		0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2790449	2790449	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:2790449C>T	uc002lwj.3	+	1	202	c.47C>T	c.(46-48)tCt>tTt	p.S16F		NM_003249	NP_003240	P52888	THOP1_HUMAN	Homo sapiens thimet oligopeptidase 1 (THOP1), mRNA.	16					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		GACGCAGCATCTCCGTGCTCT	0.602000														80			39		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106899194	106899194	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106899194C>T	uc001kyi.1	+	7	1479	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	418						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CGTGTCTTATCGAAGAGAGGC	0.502000														106			48		0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150868515	150868515	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:150868515C>T	uc022cgt.1	+	2	104	c.55C>T	c.(55-57)Cgt>Tgt	p.R19C	PRRG3_uc004few.2_Missense_Mutation_p.R19C	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	19						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ACGATTCCCTCGTGCCAATGA	0.582000														17			27		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287712	16287712	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:16287712C>T	uc010gqp.2	-	0	226	c.174G>A	c.(172-174)agG>agA	p.R58R	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	58								p.L57L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCATCTTGCTCCTGAGTGTCT	0.607000														368			65		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167674678	167674678	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:167674678C>T	uc010jjd.3	+	26	6707	c.6707C>T	c.(6706-6708)cCc>cTc	p.P2236L	ODZ2_uc003lzr.4_Missense_Mutation_p.P2006L|ODZ2_uc003lzt.4_Missense_Mutation_p.P1609L|ODZ2_uc010jje.3_Missense_Mutation_p.P1500L	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.P2236P(1)		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)		CGCCTCATGCCCTTGCGCTAT	0.557000														35			12		0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127915924	127915924	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:127915924G>A	uc010mwv.3	-	6	889	c.668C>T	c.(667-669)cCt>cTt	p.P223L	PPP6C_uc004bpg.4_Missense_Mutation_p.P186L|PPP6C_uc010mww.3_Missense_Mutation_p.P164L|PPP6C_uc011lzr.2_Missense_Mutation_p.P39L	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	186					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TCCTTTATGAGGAATTTCCTG	0.433000														58			5		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140779449	140779449	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140779449C>T	uc003lkf.2	+	0	1755	c.1755C>T	c.(1753-1755)acC>acT	p.T585T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.T585T	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	590	Cadherin 6.				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)			ACCTGGTGACCAAGGTAGTGG	0.682000														49			12		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81201555	81201555	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:81201555G>A	uc002bfw.1	+	12	1965	c.1705G>A	c.(1705-1707)Gga>Aga	p.G569R	KIAA1199_uc010unn.1_Missense_Mutation_p.G569R	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	569										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGACGAAAGGGGAGGTTATGA	0.552000														77			23		0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55044969	55044969	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55044969C>T	uc010yfa.1	+	2		c.195C>T			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GACAAGTTCTCCCTGTCAGCC	0.552000														74			7		0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44640909	44640909	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44640909G>A	uc002xqz.3	+	6	1150	c.1131G>A	c.(1129-1131)tcG>tcA	p.S377S		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	377	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CTACCACCTCGAACTTTGACA	0.657000														94			39		0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3628755	3628755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3628755C>T	uc002fwp.3	+	0	1559	c.1526C>T	c.(1525-1527)gCc>gTc	p.A509V	ITGAE_uc002fwo.4_Intron|ITGAE_uc002fwn.4_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	Homo sapiens germ cell associated 2 (haspin) (GSG2), mRNA.	509	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										ACACCCGTAGCCATAAAAATC	0.443000														33			32		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237993860	237993860	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:237993860G>A	uc001hyl.1	+	102	14806	c.14686G>A	c.(14686-14688)Gat>Aat	p.D4896N	RYR2_uc010pyb.1_Intron	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4896					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)			GATAGGCAATGATTACTTCGA	0.423000														147			18		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229772297	229772297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:229772297C>T	uc001hts.1	+	3	2073	c.1937C>T	c.(1936-1938)tCg>tTg	p.S646L	URB2_uc009xfd.1_Missense_Mutation_p.S646L	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	646						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AACCTCCCTTCGTTGCTCCCA	0.478000														255			79		0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44127496	44127496	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44127496C>T	uc002oxc.1	-	8	1202	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	Homo sapiens cell adhesion molecule 4 (CADM4), mRNA.	385					cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				ATGAAGAATTCCTCTTTCCTC	0.577000														105			44		0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99124001	99124001	+	Silent	SNP	C	T	T	rs148650223		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99124001C>T	uc003uqv.3	+	5	1462	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	ZKSCAN5_uc010lfx.3_Silent_p.I446I|ZKSCAN5_uc003uqw.3_Silent_p.I446I|ZKSCAN5_uc003uqx.3_Silent_p.I373I|ZKSCAN5_uc003uqy.3_Silent_p.I182I	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	446					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CGCATCTGATCGAACACCTAA	0.507000														232			91		0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43298724	43298724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:43298724G>A	uc003jnr.4	-	2	551	c.344C>T	c.(343-345)tCt>tTt	p.S115F	HMGCS1_uc003jnq.4_Missense_Mutation_p.S115F	NM_001098272	NP_002121	Q01581	HMCS1_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) (HMGCS1), transcript variant 1, mRNA.	115					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TGTATTCCCAGACTCTTCAAA	0.438000														104			42		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53227577	53227577	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53227577G>A	uc001sbb.3	-	0	501	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	156	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTTGTCGATGAAGGAGGCGA	0.607000														234			32		0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154139092	154139092	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:154139092T>A	uc003faa.3	-	2	1459	c.1359A>T	c.(1357-1359)aaA>aaT	p.K453N		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	453						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGATTTCTACTTTTATAGCAT	0.398000														203			53		0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2608837	2608837	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:2608837C>T	uc001lwn.3	+	8	1274	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	KCNQ1_uc009ydp.1_Missense_Mutation_p.S173F|KCNQ1_uc001lwo.3_Missense_Mutation_p.S262F	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	389					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	AACCCCGACTCCTCCACCTGG	0.642000														99			46		0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109740600	109740600	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:109740600G>A	uc021orb.1	+	17	2524	c.2303_splice	c.e17-1	p.G768_splice	KIAA1324_uc009wex.2_Splice_Site_p.G718_splice|KIAA1324_uc010ovg.2_Splice_Site_p.G666_splice|KIAA1324_uc009wey.3_Splice_Site_p.G681_splice|KIAA1324_uc001dwr.3_Splice_Site_p.G418_splice|KIAA1324_uc001dws.1_Intron|KIAA1324_uc009wez.1_Intron	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	768					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TAATTTGGCAGGGGTGACAAC	0.453000														63			26		0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676399	123676399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123676399G>A	uc010rzz.2	-	0	659	c.659C>T	c.(658-660)tCt>tTt	p.S220F		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I219L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CAGGATGGTAGAAATTATGTA	0.488000														28			12		0	0	1	0	0
MFSD2B	388931	broad.mit.edu	37	2	24245745	24245745	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:24245745G>A	uc002reo.2	+	9	1046	c.1032G>A	c.(1030-1032)ggG>ggA	p.G344G		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	344					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						AGCGCTTTGGGAAGAAGACGT	0.632000														18			4		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125856770	125856770	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:125856770G>A	uc003eim.1	-	9	1300	c.1110C>T	c.(1108-1110)ggC>ggT	p.G370G	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.G269G|ALDH1L1_uc003eio.3_Silent_p.G72G|ALDH1L1_uc010hsf.1_Silent_p.G396G	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	370	Acyl carrier.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.G370A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTAACTCCAGGCCATCACACA	0.567000														60			20		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22265871	22265871	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22265871C>T	uc010air.1	+	1	286	c.154C>T	c.(154-156)Ctc>Ttc	p.L52F	TRA_uc021rpa.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: SEB 172.																		AACTGTTAATCTCTTCTGGTA	0.493000														118			11		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74276934	74276934	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74276934C>T	uc002jrd.1	-	8	4046	c.3866G>A	c.(3865-3867)cGg>cAg	p.R1289Q	QRICH2_uc010dgw.1_Missense_Mutation_p.R133Q	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1289							protein binding	p.R1289Q(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTGTTTCTGCCGATGGTCCTC	0.622000														62			22		0	0	1	0	0
FAM86EP	348926	broad.mit.edu	37	4	3949503	3949503	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:3949503G>A	uc011bvu.2	-	4		c.832C>T			FAM86EP_uc003ghn.3_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member E, pseudogene (FAM86EP), non-coding RNA.																		GGACGGCAGAGAGCTGACAGA	0.607000														36			4		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394265	164394265	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:164394265C>T	uc003iqp.4	-	0	783	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	208						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAAAGGCTTCACAGCAATTC	0.517000														88			19		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600269	29600269	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29600269G>A	uc001usl.4	+	0	1522	c.1464G>A	c.(1462-1464)gaG>gaA	p.E488E		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	478						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTGTTGGAGAGAACAAGACGG	0.527000														52			17		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312324	48312324	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48312324C>T	uc003toq.2	+	16	3085	c.3061C>T	c.(3061-3063)Ctt>Ttt	p.L1021F	ABCA13_uc010kyr.2_Missense_Mutation_p.L524F|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1021					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCAGAGGTTCTTGGGGGAAT	0.343000														18			9		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163999	150163999	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150163999C>T	uc003whj.3	+	1	543	c.213C>T	c.(211-213)tcC>tcT	p.S71S		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	71						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)		ACCTTTTCTCCTCAATAGCTT	0.502000														140			68		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208835	58208835	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:58208835C>T	uc001vhq.1	+	0	3047	c.2155C>T	c.(2155-2157)Ctc>Ttc	p.L719F	PCDH17_uc010aec.1_Missense_Mutation_p.L719F	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	719					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTCCATCATCCTCCTAGCGGC	0.607000														68			19		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166152571	166152571	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166152571G>A	uc002udc.3	+	1	528	c.238G>A	c.(238-240)Gat>Aat	p.D80N	SCN2A_uc002udd.3_Missense_Mutation_p.D80N|SCN2A_uc002ude.3_Missense_Mutation_p.D80N	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	80					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCCCCTGGAGGATCTGGACCC	0.448000														64			14		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272394	52272394	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52272394C>T	uc002pxr.3	+	1	528	c.483C>T	c.(481-483)ttC>ttT	p.F161F	FPR2_uc002pxs.4_Silent_p.F161F|FPR2_uc010epf.3_Silent_p.F161F|FPR2_uc021uyp.1_Silent_p.F161F	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	161					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGCCAGTTTTCCTCTTTTTGA	0.517000														86			46		0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91404608	91404608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:91404608G>A	uc001dnw.3	-	2	2586	c.2303C>T	c.(2302-2304)tCa>tTa	p.S768L	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.S768L	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	768					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGAATTTAATGAACTAGCTTC	0.328000														78			49		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34164539	34164539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34164539C>T	uc001bxm.1	-	23	3916	c.3739G>A	c.(3739-3741)Gaa>Aaa	p.E1247K	CSMD2_uc001bxn.1_Missense_Mutation_p.E1207K|CSMD2_uc001bxo.1_Missense_Mutation_p.E120K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1207	Sushi 7.					integral to membrane|plasma membrane	protein binding	p.G1246S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTGATGAGTTCAAAGCCTGGT	0.512000														39			4		0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108127887	108127887	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:108127887C>T	uc004bcn.3	+	10	1598	c.1377C>T	c.(1375-1377)atC>atT	p.I459I	SLC44A1_uc004bco.1_Silent_p.I251I	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA.	459						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	CGCGAATGATCCTTATGTATA	0.408000														100			31		0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36623931	36623931	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:36623931G>A	uc002rpd.3	+	2	571	c.505_splice	c.e2+1	p.E169_splice		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	169					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGAATTGAAGGTAAGCATTAA	0.373000														96			22		0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33702229	33702229	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:33702229G>A	uc002num.2	-	6	1065	c.918C>T	c.(916-918)ttC>ttT	p.F306F	SLC7A10_uc002nul.2_Missense_Mutation_p.R45W	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	306					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GCTTCTCCCCGAAGGTCTGGG	0.622000														47			9		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74540379	74540379	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:74540379C>T	uc001dfy.4	-	5	1155	c.963G>A	c.(961-963)atG>atA	p.M321I	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	321										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTTGATTTCATGCCTAGAT	0.224000														13			8		0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50827018	50827018	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50827018G>A	uc002pru.1	-	1	1487	c.1192C>T	c.(1192-1194)Ctc>Ttc	p.L398F	KCNC3_uc002prt.1_Missense_Mutation_p.L34F	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	398					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		AGGCCCGAGAGGCCCACCTCG	0.597000														37			25		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965518	35965518	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35965518C>T	uc003jjv.2	-	3	1006	c.813G>A	c.(811-813)ttG>ttA	p.L271L	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.L271L|UGT3A1_uc011cor.2_Silent_p.L237L|UGT3A1_uc003jjy.2_Silent_p.L217L	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	271						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTTTTCCATCAAGCCTCCAA	0.448000														124			8		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398393	89398393	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89398393G>A	uc010upo.1	+	11	2951	c.2577G>A	c.(2575-2577)gaG>gaA	p.E859E	ACAN_uc010upp.1_Silent_p.E859E|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	859					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)			GCTCTGGGGAGGAATCTGGGG	0.607000														47			10		0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25141452	25141452	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:25141452G>A	uc010ykm.2	-	0	604	c.405C>T	c.(403-405)acC>acT	p.T135T	ADCY3_uc002rfs.4_Silent_p.T135T	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	135					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCACTCTGCGGGTGACCCGGT	0.627000														92			7		0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108499402	108499402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:108499402C>T	uc003psg.3	+	4	1354	c.599C>T	c.(598-600)gCt>gTt	p.A200V		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA.	200	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		ATCAAGTGGGCTAAGAGTGTG	0.527000														32			21		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476262	120476262	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:120476262C>T	uc004bjz.3	+	2	2147	c.1856C>T	c.(1855-1857)cCt>cTt	p.P619L	TLR4_uc004bkb.3_Missense_Mutation_p.P419L|TLR4_uc004bka.3_Missense_Mutation_p.P579L	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	619	LRRCT.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CAGGGCATGCCTGTGCTGAGT	0.468000														30			8		0	0	1	0	0
PRIMA1	145270	broad.mit.edu	37	14	94203587	94203587	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94203587C>T	uc001ybw.1	-	4	401	c.359_splice	c.e4+1	p.R120_splice	PRIMA1_uc001ybx.1_Splice_Site	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN	Homo sapiens proline rich membrane anchor 1 (PRIMA1), mRNA.	120					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GAGCACTCACCTTTTTATGGC	0.493000														42			16		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193002904	193002904	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:193002904C>T	uc011bsq.2	-	27	3024	c.3024_splice	c.e27-1	p.S1008_splice		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	1008					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGAAAACACTCACTACAAAAG	0.318000														54			15		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6511792	6511792	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6511792G>A	uc001amy.3	+	8	2213	c.2045G>A	c.(2044-2046)gGg>gAg	p.G682E	ESPN_uc001amz.3_Missense_Mutation_p.G116E	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	682	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGGCATCGGGCAGCCGGCC	0.682000														18			7		0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84237342	84237342	+	Silent	SNP	C	T	T	rs146975595		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:84237342C>T	uc002bjw.3	+	3	444	c.249C>T	c.(247-249)acC>acT	p.T83T	SH3GL3_uc010uot.1_Silent_p.T83T|SH3GL3_uc002bjx.3_Silent_p.T14T|SH3GL3_uc002bju.3_Silent_p.T91T|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	83	BAR.|Required for dimerization upon membrane association (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.S83L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AGGTGAAGACCACAGGATACC	0.468000														125			28		0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624553	123624553	+	Missense_Mutation	SNP	C	T	T	rs140203672	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123624553C>T	uc010rzy.2	-	0	674	c.674G>A	c.(673-675)cGa>cAa	p.R225Q		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAAGGAATTCGTAGGATTGC	0.473000														76			38		0	0	1	0	0
CIZ1	25792	broad.mit.edu	37	9	130952661	130952661	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130952661G>A	uc011mas.2	-	2	488	c.323C>T	c.(322-324)tCc>tTc	p.S108F	CIZ1_uc004btr.3_Missense_Mutation_p.S78F|CIZ1_uc004bts.3_Missense_Mutation_p.S78F|CIZ1_uc011maq.2_Missense_Mutation_p.S78F|CIZ1_uc004btu.3_Missense_Mutation_p.S78F|CIZ1_uc004btt.3_Missense_Mutation_p.S78F|CIZ1_uc011mar.2_Intron|CIZ1_uc004btw.3_Missense_Mutation_p.S78F|CIZ1_uc004btv.3_Missense_Mutation_p.S78F|CIZ1_uc004btx.2_Missense_Mutation_p.S78F	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.	78						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GTTGAGGAGGGAGGCTGAGTT	0.577000														20			8		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49687651	49687651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:49687651G>A	uc001jgu.3	-	3	776	c.479C>T	c.(478-480)cCt>cTt	p.P160L	ARHGAP22_uc001jgs.3_Intron|ARHGAP22_uc001jgt.3_Intron|ARHGAP22_uc010qgl.2_Intron|ARHGAP22_uc010qgm.2_Intron|ARHGAP22_uc001jgv.3_Intron|BC043540_uc001jgw.3_5'Flank	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	151	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGTTCTAGAGGGTGGGCATG	0.637000														19			8		0	0	1	0	0
TWSG1	57045	broad.mit.edu	37	18	9396289	9396289	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:9396289C>T	uc002knz.3	+	3	426	c.235C>T	c.(235-237)Cct>Tct	p.P79S	TWSG1_uc002koa.3_Missense_Mutation_p.P4S	NM_020648	NP_065699	Q9GZX9	TWSG1_HUMAN	Homo sapiens twisted gastrulation homolog 1 (Drosophila) (TWSG1), mRNA.	79										breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						TATGTGTAATCCTCGAAATTA	0.418000														53			16		0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49407996	49407996	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:49407996C>T	uc002efr.3	+	0	189	c.146C>T	c.(145-147)cCc>cTc	p.P49L		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	49										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AAACAAGCTCCCGAGGTGGGT	0.507000														62			18		0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30365431	30365431	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30365431C>T	uc002wwp.1	+	8	1570	c.872C>T	c.(871-873)cCt>cTt	p.P291L	TPX2_uc010gdv.1_Missense_Mutation_p.P291L	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	291					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CGAAAGCATCCTTCATCTCCT	0.363000														67			36		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791484	95791484	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95791484G>A	uc001kjk.3	+	1	1315	c.681G>A	c.(679-681)aaG>aaA	p.K227K	PLCE1_uc010qnx.2_Silent_p.K227K	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	227					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGAAGCAAAAGAAAAACTATG	0.388000														57			15		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21744103	21744103	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:21744103G>A	uc003svc.3	+	38	6377	c.6346G>A	c.(6346-6348)Gac>Aac	p.D2116N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2116					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGTGACTGACGACATCCCAGT	0.453000									Kartagener syndrome					19			11		0	0	1	0	0
POTEB	339010	broad.mit.edu	37	15	21051166	21051166	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:21051166G>A	uc010tzg.1	-	10	1661	c.1294C>T	c.(1294-1296)Cac>Tac	p.H432Y	POTEB_uc010tzf.1_Non-coding_Transcript	NM_207355	NP_997238	Q6S5H4	POTEB_HUMAN	Homo sapiens POTE ankyrin domain family, member B (POTEB), mRNA.	469										endometrium(2)|kidney(8)|lung(4)	14						GCTTACCTGTGATACTCTTCA	0.368000														65			5		0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107380046	107380046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107380046C>T	uc011lvr.2	-	0	440	c.440G>A	c.(439-441)gGg>gAg	p.G147E		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G147G(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						AAACCAGGACCCAACAGCCAT	0.453000														91			51		0	0	1	0	0
CSTF1	1477	broad.mit.edu	37	20	54978716	54978716	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:54978716C>T	uc002xxl.1	+	5	1429	c.1229C>T	c.(1228-1230)cCc>cTc	p.P410L	CSTF1_uc002xxm.1_Missense_Mutation_p.P410L|CSTF1_uc002xxn.1_Missense_Mutation_p.P410L	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.	410					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			CCCACCAACCCCGGGTTCATG	0.577000														98			30		0	0	1	0	0
FIGF	2277	broad.mit.edu	37	X	15376196	15376196	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:15376196G>A	uc004cwt.2	-	2	888	c.421C>T	c.(421-423)Cga>Tga	p.R141*	FIGF_uc022bth.1_Non-coding_Transcript	NM_004469	NP_004460	O43915	VEGFD_HUMAN	Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.	141					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					CCACCACATCGGAACACGTTC	0.517000														70			76		0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17280797	17280797	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17280797C>T	uc001azt.2	+	21	3335	c.3266C>T	c.(3265-3267)tCc>tTc	p.S1089F	CROCC_uc009voz.1_Missense_Mutation_p.S688F|CROCC_uc001azu.2_Missense_Mutation_p.S392F	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	1089					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCCACCATCTCCCTGGAGATG	0.627000														97			37		0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392827	178392827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178392827G>A	uc003mjo.2	+	4	1723	c.1422G>A	c.(1420-1422)gaG>gaA	p.E474E	ZNF454_uc010jkz.2_Silent_p.E474E|ZNF454_uc021yjc.1_Silent_p.E474E	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C473S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AAATCTGTGAGAAAGCCTTTA	0.383000														84			48		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48414342	48414342	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48414342G>A	uc001jfa.1	-	1	686	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	176					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTTCCATCCAGAACATCATAA	0.522000														43			16		0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85525463	85525463	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:85525463C>T	uc011ccv.2	+	1	683	c.185C>T	c.(184-186)cCa>cTa	p.P62L		NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	62					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CCGGAAATTCCACCATCCTCA	0.343000														76			38		0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205038639	205038639	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205038639G>A	uc001hbr.3	+	16	2415	c.2146G>A	c.(2146-2148)Gga>Aga	p.G716R	CNTN2_uc001hbq.1_Missense_Mutation_p.G607R|CNTN2_uc001hbs.3_Missense_Mutation_p.G504R	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	716	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGCACCCTCAGGACTCAGCGG	0.597000														31			10		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215928826	215928826	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:215928826G>A	uc002vew.3	-	2	500	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	94					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCTTTCCTACGAAGCAGATCT	0.433000														139			45		0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205273195	205273195	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205273195C>T	uc001hce.3	-	6	1397	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	424					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGAGGGTCCTCCTGTACCCCT	0.627000														82			27		0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41476499	41476499	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:41476499G>A	uc010ucv.2	-	11	1621	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L	EXD1_uc001znj.3_Missense_Mutation_p.P190L|EXD1_uc001znk.3_Missense_Mutation_p.P392L	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	392					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TAGATGTTGAGGATTTGTAGC	0.393000														205			19		0	0	1	0	0
SNX8	29886	broad.mit.edu	37	7	2302930	2302930	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:2302930G>A	uc003slw.3	-	6	893	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	Homo sapiens sorting nexin 8 (SNX8), mRNA.	284					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GCCTGCTTCAGGGACCCCCAC	0.617000														34			9		0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56712110	56712110	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56712110G>A	uc001skx.3	-	24	3862	c.3485C>T	c.(3484-3486)tCt>tTt	p.S1162F	CNPY2_uc001sku.2_5'Flank|CNPY2_uc001skv.3_5'Flank|PAN2_uc001skw.3_Missense_Mutation_p.S310F|PAN2_uc001sky.3_Missense_Mutation_p.S1158F|PAN2_uc001skz.3_Missense_Mutation_p.S1161F	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	1162					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTTGTGGAAAGACTCAGGCTC	0.512000														132			33		0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97058463	97058463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:97058463G>A	uc003pos.2	+	5	936	c.520G>A	c.(520-522)Ggg>Agg	p.G174R	FHL5_uc003pot.2_Missense_Mutation_p.G174R	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	174	LIM zinc-binding 3.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AACTTCAGGTGGGATAACATT	0.413000														103			64		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10534239	10534239	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:10534239C>T	uc002czw.3	+	4	1273	c.1114C>T	c.(1114-1116)Caa>Taa	p.Q372*	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Nonsense_Mutation_p.Q372*|ATF7IP2_uc002czv.3_Nonsense_Mutation_p.Q372*|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AGCAAAACTTCAAAGACGTAT	0.299000														32			4		0	0	1	0	0
IL18BP	10068	broad.mit.edu	37	11	71711488	71711488	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:71711488C>T	uc001orh.2	+	1	1042	c.120C>T	c.(118-120)gcC>gcT	p.A40A	IL18BP_uc001orf.1_Silent_p.A40A|IL18BP_uc021qmv.1_Silent_p.A40A|IL18BP_uc001ore.1_Silent_p.A40A|IL18BP_uc001org.1_Silent_p.A40A|IL18BP_uc001ori.2_Silent_p.A40A|IL18BP_uc009ysv.1_Silent_p.A40A	NM_005699	NP_005690	O95998	I18BP_HUMAN	Homo sapiens interleukin 18 binding protein (IL18BP), transcript variant C, mRNA.	40					T-helper 1 type immune response	extracellular region	interleukin-18 binding|receptor antagonist activity	p.A40A(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CCACAGCTGCCACTGCCTCAG	0.607000														101			35		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116889168	116889168	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:116889168G>A	uc001lcg.3	+	4	1086	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	ATRNL1_uc001lce.3_Non-coding_Transcript|ATRNL1_uc001lcf.3_Missense_Mutation_p.E234K	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	234	EGF-like 2.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGTATATTGTGAATGTGATAA	0.383000														93			13		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960961	51960961	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51960961C>T	uc002pwt.3	-	1	554	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	163	Ig-like C2-type 1.				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)		TCTAGGGTCCCTAGGATGAGG	0.602000														71			29		0	0	1	0	0
APOC4	346	broad.mit.edu	37	19	45448094	45448094	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45448094G>A	uc002pah.3	+	1		c.205G>A				NM_001646		P55056	APOC4_HUMAN	Homo sapiens apolipoprotein C-IV (APOC4), mRNA.						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		GCAGGATGAAGGAGCTGCTGG	0.622000														6			10		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15661511	15661511	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:15661511C>T	uc001rcv.2	+	6	1744	c.1274C>T	c.(1273-1275)tCa>tTa	p.S425L	PTPRO_uc001rcw.2_Missense_Mutation_p.S425L|PTPRO_uc001rcu.2_Missense_Mutation_p.S425L	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	425						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCAGGTCCTTCAGGAGAGTGG	0.458000														24			4		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982196	7982196	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7982196C>T	uc001mfv.1	-	1	980	c.963G>A	c.(961-963)gcG>gcA	p.A321A		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	321	NACHT.						ATP binding	p.A321A(2)|p.R320M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAAGTACCTCGCCCTCTCCT	0.512000														93			40		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170062006	170062006	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170062006G>A	uc002ues.3	-	40	7911	c.7698C>T	c.(7696-7698)taC>taT	p.Y2566Y		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2566					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATCCACCCAGTAGAGAAGGT	0.483000														95			20		0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17886947	17886947	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17886947C>T	uc002nhg.3	+	15	1438	c.1159C>T	c.(1159-1161)Ctc>Ttc	p.L387F	FCHO1_uc010ebb.2_Missense_Mutation_p.L387F|FCHO1_uc002nhh.2_Missense_Mutation_p.L387F|FCHO1_uc010xpw.1_Missense_Mutation_p.L337F	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	387										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CGCGGGCAGCCTCATCCTTCC	0.672000														142			10		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123428651	123428651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:123428651G>A	uc003ego.3	-	13	2176	c.1894C>T	c.(1894-1896)Ctc>Ttc	p.L632F	MYLK_uc011bjw.2_Missense_Mutation_p.L632F|MYLK_uc003egp.3_Missense_Mutation_p.L563F|MYLK_uc003egq.3_Missense_Mutation_p.L632F|MYLK_uc003egr.3_Missense_Mutation_p.L563F|MYLK_uc003egs.3_Missense_Mutation_p.L456F	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	632	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATGACTTTGAGATCAGAGAGG	0.512000														360			78		0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114680293	114680293	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:114680293G>A	uc021osa.1	-	2	973	c.895C>T	c.(895-897)Cac>Tac	p.H299Y	SYT6_uc021orz.1_Missense_Mutation_p.H214Y|SYT6_uc001eev.3_Missense_Mutation_p.H214Y	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	299	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGGGAAGTGGAAGTTCTCA	0.557000														57			28		0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46627726	46627726	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:46627726G>A	uc002inn.3	-	1	1666	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	HOXB3_uc010wlm.2_Silent_p.I349I|HOXB3_uc010dbf.3_Silent_p.I422I|HOXB3_uc010dbg.3_Silent_p.I422I|HOXB3_uc002ino.3_Silent_p.I422I|HOXB3_uc010wlk.2_Silent_p.I290I|HOXB3_uc010wll.2_Silent_p.I349I	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	422					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GCGCTTCTTGGATTCTACCCT	0.617000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			13		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45444226	45444226	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45444226G>A	uc001zus.1	+	24	3515	c.3169G>A	c.(3169-3171)Ggg>Agg	p.G1057R	DUOX1_uc001zut.1_Missense_Mutation_p.G1057R|DUOX1_uc010bee.1_Missense_Mutation_p.G437R|DUOX1_uc001zuu.3_Missense_Mutation_p.G199R	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	1057	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CATCGCTGGGGGGCTTTTCCT	0.602000														29			9		0	0	1	0	0
CPEB3	22849	broad.mit.edu	37	10	93902868	93902868	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:93902868G>A	uc001khw.2	-	5	1575	c.1371C>T	c.(1369-1371)atC>atT	p.I457I	CPEB3_uc001khu.2_Silent_p.I466I|CPEB3_uc001khv.2_Silent_p.I443I|CPEB3_uc010qnn.2_Silent_p.I443I	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	457	RRM 1.						RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				AGCTGGCAGTGATCTCATCTA	0.358000														35			14		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124988220	124988220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:124988220C>T	uc003yqw.3	+	8	972	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	256	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGAAGGGTTGCCCAAAATGAA	0.498000														176			47		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835304	38835304	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38835304G>A	uc003ciq.3	-	0	198	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	66					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCTCACCATAGAACTTGGGCA	0.542000														120			52		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80633209	80633209	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:80633209G>A	uc001szd.3	+	9	1021	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTGTGTTAATGATCTTTGCAA	0.353000														73			23		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6096664	6096664	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:6096664G>A	uc002wmr.3	-	2	968	c.179C>T	c.(178-180)gCt>gTt	p.A60V	FERMT1_uc010gbt.3_5'UTR|FERMT1_uc002wms.3_Missense_Mutation_p.A60V	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	60					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CCACCAAAGAGCAAAGTCTGA	0.493000														37			15		0	0	1	0	0
NANOS3	342977	broad.mit.edu	37	19	13988354	13988354	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:13988354G>A	uc002mxj.4	+	0	292	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	Homo sapiens nanos homolog 3 (Drosophila) (NANOS3), mRNA.	79					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	p.E98K(2)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GCTGAAGGACGAGGCTGGCAG	0.662000														36			10		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525760	176525760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176525760G>A	uc001gkz.3	+	1	1466	c.302G>A	c.(301-303)gGa>gAa	p.G101E	PAPPA2_uc001gky.1_Missense_Mutation_p.G101E|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	101					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G101E(3)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GACACTGAAGGAAATGCTGTG	0.567000														159			70		0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129641745	129641745	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:129641745C>T	uc022bnn.1	+	0	55	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	ZBTB34_uc004bqm.4_Silent_p.L19L	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CAGCACCGTTCTGAGCCAGCT	0.507000														97			30		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208798	140208798	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140208798G>A	uc003lho.2	+	0	1149	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Silent_p.V374V|PCDHAC2_uc011dab.2_Silent_p.V374V	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	389	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)			TAATTAGCGTGAACGACCTCG	0.498000														160			60		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75886311	75886311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:75886311C>T	uc003kek.3	+	7	941	c.719C>T	c.(718-720)cCa>cTa	p.P240L		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	240					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CTAAGAAACCCAAATGCGGTT	0.378000														57			38		0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30503006	30503006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:30503006C>T	uc002hgw.3	+	4	487	c.248C>T	c.(247-249)gCc>gTc	p.A83V	RHOT1_uc002hgy.3_Missense_Mutation_p.A83V|RHOT1_uc002hgz.3_Missense_Mutation_p.A83V|RHOT1_uc002hha.3_5'UTR|RHOT1_uc010csv.3_Non-coding_Transcript|RHOT1_uc002hgx.3_5'UTR|RHOT1_uc010wby.2_Missense_Mutation_p.A83V|RHOT1_uc002hhb.3_Missense_Mutation_p.A62V|RHOT1_uc002hgv.3_Missense_Mutation_p.A83V	NM_001033568	NP_001028740	Q8IXI2	MIRO1_HUMAN	Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA.	83	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				ATAGTGTATGCCGTTAACAAC	0.308000														25			7		0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55368262	55368262	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55368262G>A	uc010spd.1	-	1	218	c.85C>T	c.(85-87)Cta>Tta	p.L29L	TESPA1_uc001sgl.3_5'Flank|TESPA1_uc001sgm.3_5'Flank|TESPA1_uc010spb.1_5'Flank|TESPA1_uc010spc.1_5'Flank|TESPA1_uc001sgn.3_Silent_p.L29L	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	29																	TCCTCTTCTAGGACCTGGGTC	0.612000														11			6		0	0	1	0	0
SETMAR	6419	broad.mit.edu	37	3	4354988	4354988	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:4354988C>T	uc011asp.2	+	1	630	c.563C>T	c.(562-564)tCc>tTc	p.S188F	SUMF1_uc003bps.2_Intron|SETMAR_uc003bpw.4_Missense_Mutation_p.S175F|SETMAR_uc011asq.2_Intron|SETMAR_uc003bpy.4_Intron|SETMAR_uc011asr.2_Intron|SETMAR_uc010hbx.3_5'UTR	NM_006515	NP_006506	Q53H47	SETMR_HUMAN	Homo sapiens SET domain and mariner transposase fusion gene (SETMAR), transcript variant 1, mRNA.	175	Histone-lysine N-methyltransferase.|SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		CAAACAAAATCCGACTCCAAT	0.363000								Chromatin Structure						71			26		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71744131	71744131	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71744131C>T	uc010fen.3	+	9	1105	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C	DYSF_uc010fei.3_Missense_Mutation_p.R321C|DYSF_uc010feh.3_Missense_Mutation_p.R290C|DYSF_uc002sig.4_Missense_Mutation_p.R290C|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R321C|DYSF_uc010fee.3_Missense_Mutation_p.R290C|DYSF_uc010fef.3_Missense_Mutation_p.R321C|DYSF_uc002sie.3_Missense_Mutation_p.R290C|DYSF_uc010feo.3_Missense_Mutation_p.R322C|DYSF_uc010fej.3_Missense_Mutation_p.R291C|DYSF_uc010fel.3_Missense_Mutation_p.R291C|DYSF_uc010fem.3_Missense_Mutation_p.R291C|DYSF_uc002sif.3_Missense_Mutation_p.R291C|DYSF_uc010fek.3_Missense_Mutation_p.R322C	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	290						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGTAGACTCTCGTTCTCTCAG	0.498000														102			29		0	0	1	0	0
SEPT5	5413	broad.mit.edu	37	22	19707966	19707966	+	Silent	SNP	C	T	T	rs148378941		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:19707966C>T	uc002zpv.2	+	5	611	c.486C>T	c.(484-486)ccC>ccT	p.P162P	SEPT5_uc002zpw.1_Silent_p.P171P|SEPT5_uc002zpx.1_Non-coding_Transcript|GP1BB_uc002zpz.2_5'UTR	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	Homo sapiens septin 5 (SEPT5), transcript variant 1, mRNA.	162					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TCATCTCCCCCTTCGGGCATG	0.597000														59			22		0	0	1	0	0
SENP8	123228	broad.mit.edu	37	15	72432292	72432292	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72432292C>T	uc021spq.1	+	1	661	c.328C>T	c.(328-330)Caa>Taa	p.Q110*	SENP8_uc021spr.1_Nonsense_Mutation_p.Q110*|SENP8_uc021sps.1_Nonsense_Mutation_p.Q110*|SENP8_uc021spt.1_Nonsense_Mutation_p.Q110*|SENP8_uc002atp.3_Nonsense_Mutation_p.Q110*|SENP8_uc021spu.1_Nonsense_Mutation_p.Q110*	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN	Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.	110	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						GGTCTACCTCCAAGATAAAAA	0.443000														99			23		0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800537	21800537	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:21800537C>T	uc002zur.4	+	2	1583	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	HIC2_uc002zus.4_Silent_p.F451F	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	451					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CCAAGGGCTTCCCCAGCTCTG	0.622000														96			47		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243414	56243414	+	Missense_Mutation	SNP	G	A	A	rs143466064		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56243414G>A	uc002qly.3	-	1	1811	c.1783C>T	c.(1783-1785)Cgc>Tgc	p.R595C		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	595						cytoplasm	ATP binding	p.R595H(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ACACACATGCGAAGTGTCGTT	0.393000														63			15		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	410451	410451	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:410451G>A	uc001ifp.3	-	19	2430	c.2340C>T	c.(2338-2340)ttC>ttT	p.F780F	DIP2C_uc009xhi.1_Silent_p.F166F|DIP2C_uc010pzz.1_Silent_p.F101F	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	780						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGGGACCCACGAACCCCAGCA	0.617000														65			19		0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123200699	123200699	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:123200699C>T	uc001ucy.4	-	0	741	c.586G>A	c.(586-588)Gag>Aag	p.E196K	HCAR1_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	196						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	AGGAAGAACTCCAGGAGGAAC	0.532000														78			22		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176696688	176696688	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176696688C>T	uc003mfr.4	+	15	5527	c.5389C>T	c.(5389-5391)Ctc>Ttc	p.L1797F	NSD1_uc003mft.4_Missense_Mutation_p.L1528F|NSD1_uc003mfs.1_Missense_Mutation_p.L1694F|NSD1_uc011dfx.2_Missense_Mutation_p.L1445F	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1797	PWWP 2.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTTCCCAGTCCTCTTTTTTGG	0.498000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				78			28		0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118969929	118969929	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:118969929C>T	uc003ksm.2	+	2	696	c.486C>T	c.(484-486)acC>acT	p.T162T	FAM170A_uc003ksl.2_Silent_p.T162T|FAM170A_uc003ksn.3_Silent_p.T162T|FAM170A_uc003kso.3_Silent_p.T115T	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	162						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						AAGAAGTGACCCTTTCTGAGG	0.517000														98			34		0	0	1	0	0
OLR1	4973	broad.mit.edu	37	12	10312586	10312586	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10312586G>A	uc001qxo.1	-	5	829	c.715C>T	c.(715-717)Cct>Tct	p.P239S	OLR1_uc010sgz.1_3'UTR|OLR1_uc021qvb.1_3'UTR|OLR1_uc010sha.1_3'UTR	NM_002543	NP_002534	P78380	OLR1_HUMAN	Homo sapiens oxidized low density lipoprotein (lectin-like) receptor 1 (OLR1), transcript variant 1, mRNA.	239	C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GTACCTGAAGGGTATGTCTGG	0.428000														135			35		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55939046	55939046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55939046C>T	uc003pcs.3	-	19	2181	c.1949G>A	c.(1948-1950)gGa>gAa	p.G650E	COL21A1_uc010jzz.3_Missense_Mutation_p.G35E|COL21A1_uc011dxg.2_Missense_Mutation_p.G35E|COL21A1_uc011dxh.2_Missense_Mutation_p.G35E|COL21A1_uc003pcr.3_Missense_Mutation_p.E8K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	650	Collagen-like 3.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCCGGTGTTCCAGGCTGGCC	0.323000														105			34		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73905021	73905021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:73905021G>A	uc011dyh.2	+	14	3087	c.2740G>A	c.(2740-2742)Gaa>Aaa	p.E914K	KCNQ5_uc011dyi.2_Missense_Mutation_p.E905K|KCNQ5_uc010kat.3_Missense_Mutation_p.E886K|KCNQ5_uc003pgk.3_Missense_Mutation_p.E895K|KCNQ5_uc011dyj.2_Missense_Mutation_p.E785K|KCNQ5_uc011dyk.2_Missense_Mutation_p.E645K	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	895					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GCCTGCCAGGGAAGCTGCCTT	0.507000														140			11		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933065	43933065	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43933065C>T	uc002xnn.2	-	2	633	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	MATN4_uc002xnp.2_Missense_Mutation_p.R149Q|MATN4_uc002xno.2_Missense_Mutation_p.R149Q|MATN4_uc010zwr.1_Missense_Mutation_p.R97Q|MATN4_uc002xnr.1_Missense_Mutation_p.R149Q|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	149	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GTCCTGGGGCCGCCCGTCTGT	0.721000														12			3		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616397	92616397	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92616397G>A	uc001pdj.4	+	22	12792	c.12775G>A	c.(12775-12777)Gag>Aag	p.E4259K	FAT3_uc001pdi.4_Missense_Mutation_p.E699K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4259					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.E4259K(2)|p.E834K(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTGGGAGGCGAGCACCAGGA	0.682000										TCGA Ovarian(4;0.039)				161			50		0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51330320	51330320	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51330320C>T	uc002ptl.3	-	2	326	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	KLK15_uc002ptm.3_Missense_Mutation_p.E99K|KLK15_uc002ptn.3_Missense_Mutation_p.E99K|KLK15_uc002pto.3_Missense_Mutation_p.E98K|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.E98K|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	99	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.Y98Y(2)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CTGCGCGCTTCGTAGCGCGGG	0.667000														73			21		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33998705	33998705	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:33998705C>T	uc001bxm.1	-	63	10293	c.10116G>A	c.(10114-10116)gaG>gaA	p.E3372E	CSMD2_uc001bxn.1_Silent_p.E3228E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3228						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGTGCGGTGCTCGGAGCCAC	0.662000														22			17		0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138745818	138745818	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:138745818G>T	uc003vun.3	-	8	2448	c.2060C>A	c.(2059-2061)cCt>cAt	p.P687H	ZC3HAV1_uc003vuo.3_Missense_Mutation_p.P148H|ZC3HAV1_uc003vup.3_Missense_Mutation_p.P687H	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	687					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATACCACTGAGGCACAAATGT	0.433000														172			19		1.96292e-10	1.97007e-10	1	1	0
SHROOM1	134549	broad.mit.edu	37	5	132158506	132158506	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:132158506G>A	uc003kxx.3	-	9	3346	c.2541C>T	c.(2539-2541)ttC>ttT	p.F847F	SHROOM1_uc003kxy.2_Silent_p.F842F	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	847					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAGAAGAGGGAAGGGCGGCT	0.607000														17			8		0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170244629	170244629	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:170244629C>T	uc003fgz.2	-	1	413	c.97G>A	c.(97-99)Gag>Aag	p.E33K	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	33						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGCATGGACTCCACTGGTTTG	0.592000														29			4		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678234	100678234	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100678234C>T	uc003uxp.1	+	2	3590	c.3537C>T	c.(3535-3537)acC>acT	p.T1179T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1179	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGCTAACACCCTTTCAACAA	0.522000														479			110		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118343602	118343602	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118343602C>T	uc001pta.3	+	2	1751	c.1728C>T	c.(1726-1728)tcC>tcT	p.S576S	MLL_uc001ptb.3_Silent_p.S576S|MLL_uc001psz.1_Silent_p.S609S|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	576					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AGCCAGCCTCCAGTATCTCTG	0.532000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									84			38		0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77984429	77984429	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:77984429G>A	uc002jxj.3	-	2	425	c.309C>T	c.(307-309)tcC>tcT	p.S103S		NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.	103						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TGCGAACGGGGGAGCTCTCGG	0.701000														21			6		0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113704124	113704124	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113704124G>A	uc011lwo.2	-	1	375	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	LPAR1_uc004bfa.3_Missense_Mutation_p.R124C|LPAR1_uc011lwm.2_Missense_Mutation_p.R125C|LPAR1_uc004bfc.3_Missense_Mutation_p.R124C|LPAR1_uc011lwn.2_Missense_Mutation_p.R106C|LPAR1_uc004bfb.3_Missense_Mutation_p.R124C|LPAR1_uc010mub.3_Missense_Mutation_p.R124C	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	124					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		p.R124H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AGGCCCTGACGAAGGAGCCAT	0.527000														109			36		0	0	1	0	0
FOXC2	2303	broad.mit.edu	37	16	86601587	86601587	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:86601587G>A	uc002fjq.3	+	0	731	c.646G>A	c.(646-648)Gag>Aag	p.E216K		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA.	216					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA 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 factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GATCAAGAGCGAGGCGGCGTC	0.756000									Late-onset Hereditary Lymphedema					12			8		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102316	168102316	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:168102316G>A	uc002udx.3	+	8	4503	c.4414G>A	c.(4414-4416)Gaa>Aaa	p.E1472K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E1297K|XIRP2_uc010fpq.3_Missense_Mutation_p.E1250K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1297					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTAGAATATGAAAATATCAA	0.378000														85			31		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468962	56468962	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:56468962G>A	uc021wzo.1	-	0	214	c.74C>T	c.(73-75)cCt>cTt	p.P25L	ERC2_uc003dhr.1_Missense_Mutation_p.P25L	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	25						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCCCAAACGAGGAGACCTTGG	0.488000														52			19		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107858195	107858195	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:107858195G>A	uc022ccg.1	+	29	2652	c.2450G>A	c.(2449-2451)gGa>gAa	p.G817E	COL4A5_uc004enz.1_Missense_Mutation_p.G817E|COL4A5_uc004eob.1_Missense_Mutation_p.G425E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	817	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGGCTGCCAGGAATAGGTGTT	0.438000									Alport syndrome with Diffuse Leiomyomatosis					14			24		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1444083	1444083	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:1444083G>A	uc003boz.3	+	21	3166	c.2899G>A	c.(2899-2901)Gaa>Aaa	p.E967K	CNTN6_uc011asj.2_Missense_Mutation_p.E895K|CNTN6_uc003bpa.3_Missense_Mutation_p.E967K	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	967	Fibronectin type-III 4.				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)		GGTTCCATTTGAAGAAGACTA	0.368000														73			16		0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86049712	86049712	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:86049712C>T	uc003ycw.3	+	14	2551	c.2343C>T	c.(2341-2343)gcC>gcT	p.A781A	LRRCC1_uc022awx.1_Silent_p.A688A|LRRCC1_uc010maa.2_Silent_p.A482A|LRRCC1_uc003ycy.3_Silent_p.A761A	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	781					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CTTCTCTAGCCCAAAATCGTG	0.318000														74			18		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4153809	4153809	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:4153809G>A	uc003smx.3	+	24	3865	c.3726G>A	c.(3724-3726)ctG>ctA	p.L1242L	SDK1_uc010kso.3_Silent_p.L518L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1242	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCGAGGAGCTGGAGGAGTGGA	0.632000														32			13		0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247151348	247151348	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247151348G>A	uc009xgu.3	-	3	654	c.469C>T	c.(469-471)Caa>Taa	p.Q157*	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	157					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTATTGCATTGAAAGTTTTTG	0.358000														226			52		0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35025869	35025869	+	Splice_Site	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35025869T>C	uc003jjf.3	-	9	1206	c.963_splice	c.e9+1	p.E321_splice	AGXT2_uc003jje.1_Splice_Site|AGXT2_uc011com.2_Splice_Site_p.E321_splice	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	321					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.E321G(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GCCACTTACTTCATCTGCAAT	0.512000														45			15		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419851	130419851	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:130419851G>A	uc004ewe.4	-	3	552	c.269C>T	c.(268-270)tCa>tTa	p.S90L	IGSF1_uc004ewd.3_Missense_Mutation_p.S90L|IGSF1_uc022cdv.1_Missense_Mutation_p.S81L|IGSF1_uc004ewf.2_Missense_Mutation_p.S70L|IGSF1_uc022cdw.1_Missense_Mutation_p.S90L|IGSF1_uc004ewg.3_Missense_Mutation_p.S90L	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	90	Ig-like C2-type 1.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TATAAGGAATGAAACTTGGAA	0.512000														52			55		0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41032495	41032495	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41032495C>T	uc021wjj.1	+	0	9	c.9C>T	c.(7-9)ttC>ttT	p.F3F	B3GALT5_uc002yyb.1_Silent_p.F3F|B3GALT5_uc002yye.2_Silent_p.F3F|B3GALT5_uc002yyi.1_Silent_p.F3F|B3GALT5_uc002yyj.1_Silent_p.F3F|B3GALT5_uc002yyk.1_Silent_p.F3F|B3GALT5_uc002yyl.1_Silent_p.F3F|B3GALT5_uc002yym.1_Silent_p.F3F	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA.	3					protein glycosylation	Golgi membrane|endoplasmic reticulum|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				AGATGGCTTTCCCGAAGATGA	0.423000														154			34		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209165796	209165796	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:209165796C>T	uc002vcz.3	+	8	1344	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	PIKFYVE_uc010fun.1_Nonsense_Mutation_p.R77*|PIKFYVE_uc002vcy.1_Nonsense_Mutation_p.R396*|PIKFYVE_uc002vcw.3_Nonsense_Mutation_p.R396*|PIKFYVE_uc002vcv.3_Nonsense_Mutation_p.R299*|PIKFYVE_uc002vcx.3_Nonsense_Mutation_p.R310*	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	396	DEP.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.R396*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CTGGCTAATCCGAAATGGGCA	0.388000														63			15		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200514	155200514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:155200514C>T	uc021xge.1	-	22	3602	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.E1071K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1109					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTACCCTTTTCCTTGATTTTC	0.468000														100			53		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8609249	8609249	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8609249C>T	uc002mkg.3	-	13	1594	c.1456G>A	c.(1456-1458)Gct>Act	p.A486T		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	486	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTCCCCACAGCCGCCTGCAGC	0.672000														28			13		0	0	1	0	0
CSRP3	8048	broad.mit.edu	37	11	19207763	19207763	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:19207763C>T	uc001mpk.2	-	4	531	c.414_splice	c.e4+1	p.K138_splice		NM_003476	NP_003467	P50461	CSRP3_HUMAN	Homo sapiens cysteine and glycine-rich protein 3 (cardiac LIM protein) (CSRP3), transcript variant 1, mRNA.	138	LIM zinc-binding 2.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						AAGGTCTTACCTTGCCACCTC	0.498000														83			21		0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71942074	71942074	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:71942074C>T	uc001osf.3	+	11	1485	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	INPPL1_uc001osg.3_Silent_p.F204F	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	446					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CATCCTGGTTCACATCGAAGG	0.587000														155			40		0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43171060	43171060	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:43171060G>A	uc003xpz.1	+	6	974	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	POTEA_uc003xqa.1_Missense_Mutation_p.E265K	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	311										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GACATCAGAGGAAGAGCCACA	0.284000														53			17		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86200608	86200608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:86200608G>A	uc001dlj.3	-	58	4897	c.4822C>T	c.(4822-4824)Cat>Tat	p.H1608Y	COL24A1_uc001dli.3_Missense_Mutation_p.H723Y|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.H908Y|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1608	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTCAGTAAATGAAGGAAGTTC	0.428000														75			10		0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137230282	137230282	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:137230282C>T	uc003lby.3	+	3	564	c.508C>T	c.(508-510)Ctt>Ttt	p.L170F	PKD2L2_uc010jep.1_Missense_Mutation_p.L110F|PKD2L2_uc003lbw.1_Missense_Mutation_p.L170F|PKD2L2_uc003lbx.3_Missense_Mutation_p.L170F	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	170						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TAATTTTGGCCTTCAAATTAA	0.333000														33			15		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11728976	11728976	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:11728976G>A	uc002rbk.1	+	9	1564	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	GREB1_uc002rbn.1_Missense_Mutation_p.E422K|GREB1_uc002rbo.1_Missense_Mutation_p.E56K	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	422						integral to membrane		p.E422K(3)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACGGGCATACGAGCAGTACGG	0.587000														88			43		0	0	1	0	0
PABPC1P2	728773	broad.mit.edu	37	2	147345718	147345718	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:147345718G>A	uc002twf.4	+	0	1094	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K						Homo sapiens poly(A) binding protein, cytoplasmic 1 pseudogene 2 (PABPC1P2), non-coding RNA.																		TGTAAGCTTTGAAAGGCATGA	0.408000														16			5		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95947900	95947900	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:95947900G>A	uc002suk.3	+	13	1787	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K	PROM2_uc002suh.2_Missense_Mutation_p.E552K|PROM2_uc002sui.3_Missense_Mutation_p.E552K|PROM2_uc002suj.3_Missense_Mutation_p.E206K|PROM2_uc002sul.3_Missense_Mutation_p.E78K|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	552						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCAGTGCAAGGAAGGGGCAGC	0.612000														24			9		0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102626047	102626047	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:102626047C>T	uc002tbm.3	+	2	320	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	IL1R2_uc002tbn.3_Missense_Mutation_p.R31C|IL1R2_uc002tbo.1_Missense_Mutation_p.R31C	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	31	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	p.F30I(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CTGCCGGTTTCGTGGGAGGCA	0.612000														143			53		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873207	55873207	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55873207C>T	uc010riy.2	+	0	689	c.689C>T	c.(688-690)tCc>tTc	p.S230F		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AAAATTAATTCCACTTCAGGA	0.373000										HNSCC(53;0.14)				91			41		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29044228	29044228	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29044228C>T	uc002kws.3	+	8	1263	c.1154C>T	c.(1153-1155)cCt>cTt	p.P385L		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	385					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCATTCCGTCCTGCTTCCAAG	0.393000														70			20		0	0	1	0	0
TMEM156	80008	broad.mit.edu	37	4	39000451	39000451	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:39000451G>A	uc003gto.3	-	1	275	c.167C>T	c.(166-168)tCt>tTt	p.S56F	TMEM156_uc010ifj.3_Missense_Mutation_p.S56F	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	56						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AGTCACAAAAGAAAAATTTAA	0.353000														32			17		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51864298	51864298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51864298C>T	uc001rys.1	+	12	1825	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	SLC4A8_uc010sni.2_Silent_p.F496F|SLC4A8_uc001rym.3_Silent_p.F496F|SLC4A8_uc001ryn.3_Silent_p.F496F|SLC4A8_uc001ryo.2_Silent_p.F496F|SLC4A8_uc010snj.2_Silent_p.F576F|SLC4A8_uc001ryq.4_Silent_p.F549F|SLC4A8_uc001ryr.3_Silent_p.F549F|SLC4A8_uc010snk.2_Silent_p.F496F	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	549					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGATTTTGTTCAAATTCTGCA	0.418000														129			30		0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47260154	47260154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:47260154C>T	uc001vbk.3	+	4	1036	c.800C>T	c.(799-801)cCt>cTt	p.P267L	LRCH1_uc010acp.2_Missense_Mutation_p.P267L|LRCH1_uc001vbj.3_Missense_Mutation_p.P267L|LRCH1_uc001vbl.4_Missense_Mutation_p.P267L	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	267										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GAGAATAACCCTCTGCAGTCT	0.473000														55			18		0	0	1	0	0
PILRB	29990	broad.mit.edu	37	7	99956641	99956641	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99956641C>T	uc022aim.1	+	6	1465	c.393C>T	c.(391-393)acC>acT	p.T131T	PILRB_uc003uum.1_Non-coding_Transcript|PILRB_uc003uun.3_Silent_p.T131T	NM_178238	NP_839956	Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 3, mRNA.	131	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCTGGACACCCGGAGATCAG	0.592000														70			39		0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56989552	56989552	+	Splice_Site	SNP	C	T	T	rs1802023		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:56989552C>T	uc001cyj.2	-	4	1144	c.576_splice	c.e4-1	p.R192_splice		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	192					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						AGAAGGACTTCCTGCAAGAGC	0.502000														22			10		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110809020	110809020	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:110809020C>T	uc003kpf.3	+	7	872	c.637C>T	c.(637-639)Ctt>Ttt	p.L213F	CAMK4_uc010jbv.3_Missense_Mutation_p.L16F	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	213	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACCTGAAATTCTTAGAGGTTG	0.318000														131			34		0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154492783	154492783	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154492783G>A	uc009wow.3	+	4	983	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	TDRD10_uc001ffd.3_Missense_Mutation_p.E49K|TDRD10_uc001ffe.3_5'Flank	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	49	RRM.						RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTTGTAGGAGGAAATTCTGTA	0.423000														43			20		0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55419267	55419267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55419267G>A	uc001nhs.1	+	0	888	c.888G>A	c.(886-888)atG>atA	p.M296I		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	296					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)				AGAATGCAATGAAGAAACTGT	0.358000														214			78		0	0	1	0	0
C3orf25	90288	broad.mit.edu	37	3	129127538	129127538	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:129127538T>C	uc003emg.3	-	5	1362	c.1199A>G	c.(1198-1200)aAg>aGg	p.K400R		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						CTTACAGAGCTTCCAGCATTG	0.572000														10			5		0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55564480	55564480	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:55564480C>T	uc010igr.3	+	2	455	c.368C>T	c.(367-369)tCc>tTc	p.S123F	KIT_uc010igs.3_Missense_Mutation_p.S123F	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	123	Ig-like C2-type 2.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.S123F(2)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTTGACCGCTCCTTGTATGGG	0.473000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					19			10		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106757818	106757818	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106757818C>T	uc021ser.1	-	749		c.19560G>A								Parts of antibodies, mostly variable regions.																		CCAGGGCCTTCCCTGGGGGCT	0.537000														58			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179629027	179629027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179629027G>A	uc021vsy.1	-	42	10216	c.9991C>T	c.(9991-9993)Cca>Tca	p.P3331S	TTN_uc021vsz.1_Missense_Mutation_p.P3285S|TTN_uc021vta.1_Missense_Mutation_p.P3285S|TTN_uc021vtb.1_Missense_Mutation_p.P3285S|TTN_uc002umz.1_5'UTR|TTN_uc002unb.2_Missense_Mutation_p.P3331S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3331							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)			ACAACTTCTGGAACTAAAGAA	0.448000														31			14		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54450144	54450144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:54450144G>A	uc002iun.1	+	5	783	c.748G>A	c.(748-750)Gct>Act	p.A250T		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	250										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCAGCTGAAAGCTTGGGAGTG	0.498000														118			42		0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95680230	95680230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:95680230C>T	uc003ygq.4	+	9	1168	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	ESRP1_uc003ygr.4_Missense_Mutation_p.R329C|ESRP1_uc003ygs.4_Missense_Mutation_p.R329C|ESRP1_uc003ygt.4_Missense_Mutation_p.R329C|ESRP1_uc003ygu.4_Missense_Mutation_p.R329C|ESRP1_uc003ygv.3_Missense_Mutation_p.R169C|ESRP1_uc003ygw.3_Missense_Mutation_p.R169C	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	329	RRM 2.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	p.V328L(1)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AGTCATTGTCCGCATGCGGGG	0.483000														49			14		0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154317530	154317530	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154317530C>T	uc001fex.3	+	21	2469	c.2469C>T	c.(2467-2469)acC>acT	p.T823T		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	809					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCCGGGTGACCCCCTTGCAGA	0.552000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		123			49		0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112358111	112358111	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:112358111C>T	uc003dzf.3	-	1	860	c.642G>A	c.(640-642)ctG>ctA	p.L214L	CCDC80_uc011bhv.2_Silent_p.L214L|CCDC80_uc003dzg.3_Silent_p.L214L|CCDC80_uc003dzh.1_Silent_p.L214L	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	214										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGCTAGGGTCCAGGGGCTGCT	0.582000														136			19		0	0	1	0	0
SEPT8	23176	broad.mit.edu	37	5	132100089	132100089	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:132100089G>A	uc003kxr.2	-	2	412	c.174C>T	c.(172-174)tcC>tcT	p.S58S	SEPT8_uc003kxs.1_Silent_p.S58S|SEPT8_uc003kxu.2_Silent_p.S58S|SEPT8_uc011cxi.1_Silent_p.S58S|SEPT8_uc003kxv.2_Silent_p.S58S|SEPT8_uc003kxt.2_5'UTR	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	Homo sapiens septin 8 (SEPT8), transcript variant 1, mRNA.	58					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATCAGTGTGGATTTGCCAA	0.587000														34			11		0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197703506	197703506	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:197703506G>A	uc010iar.3	+	4	491	c.469G>A	c.(469-471)Gat>Aat	p.D157N	LMLN_uc003fyt.3_Missense_Mutation_p.D105N|LMLN_uc011buo.2_Missense_Mutation_p.D157N|LMLN_uc010ias.3_Missense_Mutation_p.D105N|LMLN_uc003fyu.3_5'UTR	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.	157					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GAAGGAAAACGATCCTCACAG	0.438000														98			86		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34002668	34002668	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34002668G>A	uc001bxm.1	-	61	10010	c.9833C>T	c.(9832-9834)cCt>cTt	p.P3278L	CSMD2_uc001bxn.1_Missense_Mutation_p.P3134L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3134						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGCACACCAGGGTCCGCACA	0.517000														52			29		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71510360	71510360	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71510360C>T	uc011caw.1	+	8	3498	c.3217C>T	c.(3217-3219)Cca>Tca	p.P1073S		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	1073					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CACCGGAACTCCATCTAGCGA	0.433000														95			21		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848257	73848257	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:73848257G>A	uc003xzb.3	+	2	1255	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	223					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)			GGAAACGGACGAATTTGGACA	0.478000														113			54		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13678033	13678033	+	Silent	SNP	C	T	T	rs17854691		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:13678033C>T	uc011avc.2	+	16	3685	c.3303C>T	c.(3301-3303)ttC>ttT	p.F1101F	FBLN2_uc011auz.2_Silent_p.F1080F|FBLN2_uc011avb.2_Silent_p.F1054F|FBLN2_uc011ava.2_Silent_p.F1101F	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	1054	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.F520F(1)|p.F1101F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCCTGCGCTTCGAGTGTCCTC	0.592000														19			8		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12343664	12343664	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12343664C>T	uc001atv.3	+	20	5646	c.5505C>T	c.(5503-5505)atC>atT	p.I1835I	VPS13D_uc001atw.3_Silent_p.I1835I|VPS13D_uc001atx.3_Silent_p.I1023I	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1835					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTTTTGGAATCGGCTCCACTG	0.483000														149			45		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085504	9085504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9085504C>T	uc002mkp.3	-	0	6515	c.6311G>A	c.(6310-6312)aGa>aAa	p.R2104K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2104	Ser-rich.|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						TTCTGGATTTCTTTGCTTAGC	0.502000														152			50		0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962931	94962931	+	Silent	SNP	G	A	A	rs34365882	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94962931G>A	uc001ydj.3	-	3	1480	c.684C>T	c.(682-684)ttC>ttT	p.F228F		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	228					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TCTCCAGAAAGAAATCTTCCT	0.413000														90			45		0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41797462	41797462	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:41797462C>T	uc001zoa.3	-	14	2047	c.1869G>A	c.(1867-1869)ctG>ctA	p.L623L	LTK_uc001zob.3_Silent_p.L562L|LTK_uc010ucx.1_Silent_p.L493L|LTK_uc010bcg.2_Silent_p.L321L	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	623	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGTCCTGGGCCAGTTGCAGCA	0.602000										TSP Lung(18;0.14)				39			18		0	0	1	0	0
KISS1	3814	broad.mit.edu	37	1	204159666	204159666	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204159666G>A	uc001har.3	-	2	517	c.363C>T	c.(361-363)ttC>ttT	p.F121F		NM_002256	NP_002247	Q15726	KISS1_HUMAN	Homo sapiens KiSS-1 metastasis-suppressor (KISS1), mRNA.	121	Essential for receptor binding and receptor activation.				cytoskeleton organization	extracellular region	protein binding			large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		CCCGCTTGCCGAAGCGCAGGC	0.692000														8			9		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35833903	35833903	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:35833903G>A	uc011axy.2	+	17	2277	c.2065G>A	c.(2065-2067)Gga>Aga	p.G689R	ARPP21_uc003cga.3_Missense_Mutation_p.G669R|ARPP21_uc003cgb.3_Missense_Mutation_p.G688R|ARPP21_uc003cgf.3_Missense_Mutation_p.G524R|ARPP21_uc003cgg.3_Missense_Mutation_p.G211R	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	688	Gln-rich.					cytoplasm	nucleic acid binding	p.F689F(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TGGTCAACAGGGATTCCAAGG	0.468000														184			72		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38941495	38941495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38941495G>A	uc021wvy.1	-	12	2111	c.1912C>T	c.(1912-1914)Cgc>Tgc	p.R638C		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	638					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGCCTCGGCGAAAGTAGTGG	0.423000														51			14		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48613161	48613161	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48613161G>A	uc003ctz.2	-	71	5878	c.5877C>T	c.(5875-5877)atC>atT	p.I1959I		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1959	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGTCTCCACGATCTCCCGCA	0.682000														65			29		0	0	1	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021459	46021459	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46021459C>T	uc002zfn.4	+	1	948	c.923C>T	c.(922-924)tCc>tTc	p.S308F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	313	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCCTCCTCCTCCGTGTCCCTC	0.692000														118			10		0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44477310	44477310	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44477310G>A	uc001cll.3	-	1	364	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.3_Intron|SLC6A9_uc009vxd.3_Intron|SLC6A9_uc010okn.2_Intron|SLC6A9_uc010oko.2_Intron|SLC6A9_uc001cln.3_Intron|SLC6A9_uc010okp.1_Intron	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	58						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CAGACTTTGAGGACAGACTCT	0.617000														53			21		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	91937	91937	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000209.1:91937G>A	uc002quk.1	+	5	705	c.650_splice	c.e5-1	p.G217_splice	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	217							receptor activity										TGTGTTCTAGGAAACTCTTCA	0.453000														188			62		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215866333	215866333	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:215866333C>T	uc002vew.3	-	20	3032	c.2812G>A	c.(2812-2814)Gaa>Aaa	p.E938K	ABCA12_uc002vev.3_Missense_Mutation_p.E620K|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	938					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.E938K(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCTCCATTTCATCTATGGTT	0.388000														159			58		0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917308	48917308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48917308C>T	uc002isv.4	+	1	1353	c.659C>T	c.(658-660)tCg>tTg	p.S220L	WFIKKN2_uc010dbu.3_Missense_Mutation_p.S127L	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	220	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GTGCACCAGTCGGTCACCATG	0.637000														48			14		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89939773	89939773	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89939773G>A	uc003kju.3	+	13	2803	c.2707G>A	c.(2707-2709)Gaa>Aaa	p.E903K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	903					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATGATAAATGAAAGCAAAGG	0.294000														20			6		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156512	155156512	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155156512C>T	uc003inw.2	-	24	7927	c.7927G>A	c.(7927-7929)Gaa>Aaa	p.E2643K		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2643					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTTTCTCCTTCCACAGAACAG	0.468000														88			21		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599756	29599756	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29599756G>A	uc001usl.4	+	0	1009	c.951G>A	c.(949-951)gaG>gaA	p.E317E		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	307						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAAAGGGAGAGGCCAAGCTGG	0.502000														28			17		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76471470	76471470	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76471470C>T	uc010dhp.2	-	53	8526	c.8401G>A	c.(8401-8403)Ggg>Agg	p.G2801R	DNAH17_uc002jvs.3_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCGCCCACCCCCACCAGCAGG	0.612000														81			25		0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350251	134350251	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:134350251C>T	uc003qem.1	-	1	883	c.712G>A	c.(712-714)Gga>Aga	p.G238R		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	238						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	p.L237I(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		CTTAACCTTCCAAGAACCTTG	0.443000														42			33		0	0	1	0	0
PCDHB18	54660	broad.mit.edu	37	5	140615524	140615524	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140615524C>T	uc003ljc.1	+	0	1587	c.1239C>T	c.(1237-1239)ccC>ccT	p.P413P						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						ACAACAGCCCCGCCCTGCACA	0.637000														275			87		0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49165917	49165917	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49165917G>A	uc003cwe.3	-	14	2291	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	LAMB2_uc003cwf.1_Silent_p.I664I	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	664	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGTCCCTTGGATGCGATCAT	0.612000														36			10		0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71797676	71797676	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:71797676G>A	uc002llf.2	-	3	630	c.550C>T	c.(550-552)Cca>Tca	p.P184S	FBXO15_uc002lle.2_Missense_Mutation_p.P108S	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	108										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GTCTTAACTGGAAGGCCTGTG	0.433000														59			20		0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72473661	72473661	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72473661G>A	uc002jkv.3	+	3	941	c.620G>A	c.(619-621)tGg>tAg	p.W207*	CD300A_uc002jkw.3_Nonsense_Mutation_p.W94*|CD300A_uc010dfr.3_Nonsense_Mutation_p.W94*|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	207					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TTTCAGAAATGGATCAAAGGT	0.597000														35			6		0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60242078	60242078	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:60242078C>T	uc002lip.4	+	12	2764	c.2764C>T	c.(2764-2766)Ccc>Tcc	p.P922S	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Missense_Mutation_p.P392S	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	922					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ACCAGGCTCTCCCCTTGCTGC	0.617000														49			24		0	0	1	0	0
SPAG7	9552	broad.mit.edu	37	17	4864138	4864138	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:4864138G>A	uc002gae.3	-	1	129	c.96C>T	c.(94-96)gcC>gcT	p.A32A	SPAG7_uc002gaf.3_Silent_p.A32A	NM_004890	NP_004881	O75391	SPAG7_HUMAN	Homo sapiens sperm associated antigen 7 (SPAG7), mRNA.	32						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TCTTCAGGCGGGCGGCCTGTT	0.502000														62			26		0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256380	63256380	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:63256380G>A	uc011cqt.2	-	0	1167	c.1167C>T	c.(1165-1167)ggC>ggT	p.G389G		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	389					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGTTGGAGTAGCCCAGCCAAT	0.507000														234			60		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28649015	28649015	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28649015C>T	uc002kwl.4	-	14	2807	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K	DSC2_uc002kwk.4_Missense_Mutation_p.E785K	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	785					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTCACCATTTCGATGGTCTCC	0.582000														60			14		0	0	1	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737853	62737853	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62737853G>A	uc011abt.2	-	0	332	c.332C>T	c.(331-333)cCc>cTc	p.P111L		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	111						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CTCCCCGAAGGGCCAGTACTG	0.607000														33			16		0	0	1	0	0
TMEM30A	55754	broad.mit.edu	37	6	75994289	75994289	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:75994289G>A	uc003phw.2	-	0	344	c.66C>T	c.(64-66)acC>acT	p.T22T	TMEM30A_uc003phx.2_Silent_p.T22T|LOC100506804_uc010kbd.2_5'Flank	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN	Homo sapiens transmembrane protein 30A (TMEM30A), transcript variant 1, mRNA.	22						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGTCTTCGCGGTGCCCCCCG	0.617000														139			21		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035837	36035837	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:36035837C>T	uc003jjz.2	-	6	1667	c.1535G>A	c.(1534-1536)tGg>tAg	p.W512*	UGT3A2_uc011cos.2_Nonsense_Mutation_p.W478*|UGT3A2_uc011cot.2_Nonsense_Mutation_p.W210*	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	512						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACGCAGCCACCAGACAGCCAT	0.587000														53			14		0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999049	143999049	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:143999049G>A	uc003yxk.1	-	0	211	c.208C>T	c.(208-210)Cag>Tag	p.Q70*		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	70					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			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)	TGGAAGGTCTGGTGCATCTCC	0.637000									Familial Hyperaldosteronism type I					62			29		0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24845205	24845205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24845205G>A	uc001wpc.3	+	7	2275	c.1954G>A	c.(1954-1956)Gag>Aag	p.E652K	NFATC4_uc010alr.3_Missense_Mutation_p.E715K|NFATC4_uc010tok.2_Missense_Mutation_p.E715K|NFATC4_uc010tol.2_Missense_Mutation_p.E715K|NFATC4_uc010too.2_Missense_Mutation_p.E665K|NFATC4_uc010tom.2_Missense_Mutation_p.E665K|NFATC4_uc010ton.2_Missense_Mutation_p.E665K|NFATC4_uc010toq.2_Missense_Mutation_p.E684K|NFATC4_uc010alt.3_Missense_Mutation_p.E684K|NFATC4_uc010top.2_Missense_Mutation_p.E684K|NFATC4_uc010tor.2_Missense_Mutation_p.E652K|NFATC4_uc010tos.2_Missense_Mutation_p.E582K|NFATC4_uc010tot.2_Missense_Mutation_p.E640K|NFATC4_uc010tou.2_Missense_Mutation_p.E582K|NFATC4_uc010tov.2_Missense_Mutation_p.E640K|NFATC4_uc010tow.2_Missense_Mutation_p.E582K|NFATC4_uc010alv.3_Missense_Mutation_p.E640K|NFATC4_uc010tox.2_Missense_Mutation_p.E582K|NFATC4_uc001wpd.3_Missense_Mutation_p.E187K|NFATC4_uc010toy.2_Missense_Mutation_p.E187K|NFATC4_uc010toz.2_Missense_Mutation_p.E187K|NFATC4_uc010tpa.2_5'UTR|NFATC4_uc010tpb.2_5'UTR	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	652	IPT/TIG.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GACTGTCCCCGAGTACAGCAA	0.577000														221			24		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34684295	34684295	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34684295C>T	uc001bxt.3	+	6	2568	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	C1orf94_uc001bxs.4_Missense_Mutation_p.S387L	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	387							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGGTTCGGCTCGACATCCGGA	0.448000														85			22		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233507881	233507881	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233507881G>A	uc001hvt.4	+	5	1911	c.1650G>A	c.(1648-1650)atG>atA	p.M550I	KIAA1804_uc001hvs.1_Missense_Mutation_p.M550I	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	550					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GCCCCACAATGATGCCCCGAC	0.557000														80			31		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108297011	108297011	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:108297011C>T	uc003ymn.3	-	6	1572	c.1104G>A	c.(1102-1104)caG>caA	p.Q368Q	ANGPT1_uc011lhv.2_Silent_p.Q168Q|ANGPT1_uc003ymo.3_Silent_p.Q367Q|ANGPT1_uc003ymp.4_Silent_p.Q167Q	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	368	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGTACTGCCTCTGACTGGTAA	0.403000														53			16		0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75403345	75403345	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:75403345C>T	uc004aiz.1	+	13	1515	c.975C>T	c.(973-975)atC>atT	p.I325I	TMC1_uc010moz.1_Silent_p.I283I|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Silent_p.I179I|TMC1_uc010mpa.1_Silent_p.I179I	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	325					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ACTACCTGATCGGCAATCCTG	0.398000														55			21		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272052	52272052	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52272052G>A	uc002pxr.3	+	1	186	c.141G>A	c.(139-141)gtG>gtA	p.V47V	FPR2_uc002pxs.4_Silent_p.V47V|FPR2_uc010epf.3_Silent_p.V47V|FPR2_uc021uyp.1_Silent_p.V47V	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	47					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						ATGGGCTTGTGATCTGGGTGG	0.557000														84			27		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81702588	81702588	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81702588G>A	uc001kbh.3	-	2	290	c.247C>T	c.(247-249)Cca>Tca	p.P83S		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	83	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GGCCCAACTGGGCCAGCTTGT	0.577000														87			41		0	0	1	0	0
POP4	10775	broad.mit.edu	37	19	30106194	30106194	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:30106194C>T	uc002nsf.2	+	6	626	c.570C>T	c.(568-570)ggC>ggT	p.G190G	POP4_uc002nsg.2_Silent_p.G109G	NM_006627	NP_006618	O95707	RPP29_HUMAN	Homo sapiens processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) (POP4), transcript variant 1, mRNA.	190					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	RNA binding|identical protein binding|ribonuclease P activity			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			AAACCGATGGCTTTATTTCCT	0.383000														49			23		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967979	4967979	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4967979G>A	uc010qys.2	-	0	352	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	118					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)		GACATGATCAGGAGGACTGAG	0.443000														288			48		0	0	1	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36488689	36488689	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36488689C>T	uc021wdj.1	+	14	1637	c.1546C>T	c.(1546-1548)Cac>Tac	p.H516Y	CTNNBL1_uc002xhh.3_Missense_Mutation_p.H329Y|CTNNBL1_uc002xhi.3_Non-coding_Transcript|CTNNBL1_uc002xhj.3_Missense_Mutation_p.H264Y	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	516					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CCAGAGGGTTCACCAGATCCT	0.428000														129			62		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72943463	72943464	+	Missense_Mutation	DNP	GG	AA	AA	rs113286281		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72943463_72943464GG>AA	uc010wrr.2	+	5	1513_1514	c.1513_1514GG>AA	c.(1513-1515)ggc>AAc	p.G505N	OTOP3_uc010wrq.2_Missense_Mutation_p.G487N	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	505						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GCTGGGCCAGGGCCTGCAGCGG	0.644000														42			17		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158587369	158587369	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158587369G>A	uc001fst.1	-	46	6757	c.6558C>T	c.(6556-6558)ctC>ctT	p.L2186L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2186					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGTTTCTTTGAGCAATGATC	0.343000														39			18		0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52306893	52306893	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52306893G>A	uc001rzj.3	+	2	355	c.72G>A	c.(70-72)gtG>gtA	p.V24V	ACVRL1_uc021qxz.1_Silent_p.V24V|ACVRL1_uc001rzk.3_Silent_p.V24V|ACVRL1_uc010snm.2_Intron	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	24					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GAGACCCTGTGAAGCCGTCTC	0.657000														9			7		0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375997	93375997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:93375997G>A	uc022bjs.1	-	0	113	c.113C>T	c.(112-114)cCg>cTg	p.P38L	DIRAS2_uc004aqx.1_Missense_Mutation_p.P38L	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	38					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.P38Q(2)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTCCACCGTCGGGATGTAGCT	0.577000														161			28		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466841	50466841	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:50466841G>A	uc001vdk.2	+	0	2297	c.2115G>A	c.(2113-2115)gtG>gtA	p.V705V						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		TGTTTCCAGTGGATACGAGGG	0.522000														248			85		0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24573359	24573359	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:24573359C>T	uc002dmh.3	+	9	2206	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	RBBP6_uc010vcb.1_Missense_Mutation_p.S256F|RBBP6_uc002dmi.3_Missense_Mutation_p.S389F|RBBP6_uc010bxr.3_Missense_Mutation_p.S389F|RBBP6_uc002dmk.3_Missense_Mutation_p.S256F	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	389					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TCATTAACTTCTAATCAGTCT	0.438000														144			8		0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785174	1785174	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:1785174C>T	uc002ltw.3	-	26	3750	c.3516G>A	c.(3514-3516)acG>acA	p.T1172T	ATP8B3_uc002ltv.3_Silent_p.T1135T|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1172					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)		ACGGGAAGGTCGTGGGGGATA	0.617000														7			4		0	0	1	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75388145	75388145	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75388145G>A	uc010tux.2	-	1	628	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc021rwp.1_Missense_Mutation_p.R34C|RPS6KL1_uc001xqy.1_Missense_Mutation_p.R34C	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA.	34						ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		ACCCTGTTGCGAATCTGCTCC	0.627000														136			14		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447371	226447371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:226447371C>T	uc002voe.2	+	3	1413	c.1238C>T	c.(1237-1239)tCg>tTg	p.S413L	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.S183L	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	413	Pro-rich.																CTCTCCTCGTCGCCCCCACCC	0.682000														15			5		0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55578978	55578978	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55578978C>T	uc001nhw.1	+	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				TGGCTGAGTTCATTCTCCTTG	0.423000														196			71		0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73280619	73280619	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:73280619C>T	uc003hgk.2	-	3	611	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	192					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTTTTTCTTCCTCCATCTGT	0.388000														85			36		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108682331	108682331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108682331C>T	uc003dxl.3	-	26	2816	c.2729G>A	c.(2728-2730)aGa>aAa	p.R910K	MORC1_uc011bhn.2_Missense_Mutation_p.R889K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	910					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGAGATTTTTCTTTTATTTTC	0.328000														144			34		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151970819	151970819	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:151970819G>A	uc003wla.3	-	6	1202	c.983C>T	c.(982-984)cCa>cTa	p.P328L		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	328					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AATGTGTTCTGGACAAAGCAG	0.378000			N		medulloblastoma									381			18		0	0	1	0	0
FAIM3	9214	broad.mit.edu	37	1	207085271	207085271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207085271C>T	uc001hey.3	-	3	693	c.514G>A	c.(514-516)Gtc>Atc	p.V172I	FAIM3_uc010prz.2_Missense_Mutation_p.V60I|FAIM3_uc021pif.1_Missense_Mutation_p.V172I|FAIM3_uc010psa.2_Missense_Mutation_p.V81I	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA.	172					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					ACTGGAGGGACCTTGCCCCTT	0.542000											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067484	9067484	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9067484G>A	uc002mkp.3	-	2	20166	c.19962C>T	c.(19960-19962)tcC>tcT	p.S6654S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6656	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.F6653L(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						CATGAGCCAGGGAGAATGTTG	0.502000														71			33		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61568368	61568368	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61568368C>T	uc002jau.2	+	17	2729	c.2695C>T	c.(2695-2697)Cct>Tct	p.P899S	ACE_uc010wpj.2_Missense_Mutation_p.P325S|ACE_uc010ddv.2_Missense_Mutation_p.P126S|ACE_uc002jav.2_Missense_Mutation_p.P325S|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.P145S	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	899	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)	GGTGCCCTTCCCTTCAGCCCC	0.617000														127			42		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202777349	202777349	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:202777349G>A	uc009xag.3	-	0	201	c.85C>T	c.(85-87)Cca>Tca	p.P29S	KDM5B_uc001gyf.3_Missense_Mutation_p.P29S|KDM5B_uc001gyg.1_5'Flank	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	29					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CACTCGGGTGGAGGCAGGAAC	0.706000														42			22		0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164467888	164467888	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:164467888G>A	uc002uck.1	-	2	765	c.454C>T	c.(454-456)Cct>Tct	p.P152S		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	152						nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.P152A(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GCTACCCCAGGAGAGCTTCCT	0.512000														104			14		0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12774193	12774193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12774193G>A	uc002mub.2	-	5	923	c.847C>T	c.(847-849)Cgc>Tgc	p.R283C	MAN2B1_uc010dyv.1_Missense_Mutation_p.R283C	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	283					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCGGGGCTGCGAGGGTCCTCC	0.567000														73			35		0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256409	63256409	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:63256409G>A	uc011cqt.2	-	0	1138	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	380					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCGCCCAACAGGGTGGGCATG	0.527000														206			69		0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40123361	40123361	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:40123361T>A	uc003guy.4	+	8	3968	c.3630T>A	c.(3628-3630)acT>acA	p.T1210T	N4BP2_uc010ifq.3_Silent_p.T1130T|N4BP2_uc010ifr.3_Silent_p.T1130T	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	1210						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	p.V1209I(1)		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						GAGCTGTCACTCCTGAAAACC	0.423000														73			40		0	0	1	0	0
TMEM74B	55321	broad.mit.edu	37	20	1162148	1162148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:1162148C>T	uc002weq.1	-	1	787	c.115G>A	c.(115-117)Ggt>Agt	p.G39S	TMEM74B_uc010gaa.1_Missense_Mutation_p.G39S	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	Homo sapiens transmembrane protein 74B (TMEM74B), mRNA.	39						integral to membrane	protein binding										GCTTGGGGACCATTGCTCAGT	0.602000														53			4		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6083359	6083359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:6083359G>A	uc010idb.1	-	5	1564	c.1078C>T	c.(1078-1080)Ctc>Ttc	p.L360F	JAKMIP1_uc010idc.1_Missense_Mutation_p.L195F|JAKMIP1_uc010idd.1_Missense_Mutation_p.L360F|JAKMIP1_uc003giu.4_Missense_Mutation_p.L360F|JAKMIP1_uc011bwc.2_Missense_Mutation_p.L195F|JAKMIP1_uc003giv.4_Missense_Mutation_p.L360F|JAKMIP1_uc010ide.3_Missense_Mutation_p.L360F	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	360	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.L360I(3)|p.L360L(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCCGCGTGAGGTTCTTGATT	0.532000														80			26		0	0	1	0	0
MFAP5	8076	broad.mit.edu	37	12	8802109	8802109	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8802109C>T	uc001qut.1	-	8	610	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	MFAP5_uc001qus.2_Missense_Mutation_p.E123K|MFAP5_uc009zge.1_Missense_Mutation_p.E108K	NM_003480	NP_003471	Q13361	MFAP5_HUMAN	Homo sapiens microfibrillar associated protein 5 (MFAP5), mRNA.	133						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					TTCATAGCTTCGTGTTCCTTA	0.433000														42			19		0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52993438	52993438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:52993438C>T	uc003pbp.3	-	5	1086	c.877G>A	c.(877-879)Gat>Aat	p.D293N		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	293						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GCTTGTAGATCGCCATGATCA	0.473000														73			9		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64664000	64664000	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64664000G>A	uc001obx.3	-	38	5476	c.5361C>T	c.(5359-5361)gcC>gcT	p.A1787A	ATG2A_uc001obw.3_Silent_p.A552A	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1787							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGCCAAAGGAGGCAGCCCCTC	0.637000											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		29			14		0	0	1	0	0
MOGAT1	116255	broad.mit.edu	37	2	223559950	223559950	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:223559950G>A	uc010fws.1	+	4	844	c.796G>A	c.(796-798)Gga>Aga	p.G266R	MOGAT1_uc010fwt.1_Missense_Mutation_p.G226R	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA.	266					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		TCATGCCAGGGGAGTTTTTCA	0.388000														27			5		0	0	1	0	0
SPNS2	124976	broad.mit.edu	37	17	4437103	4437103	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:4437103G>A	uc002fxx.2	+	8	1513	c.1299G>A	c.(1297-1299)gaG>gaA	p.E433E	SPNS2_uc002fxy.2_5'Flank	NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	Homo sapiens spinster homolog 2 (Drosophila) (SPNS2), mRNA.	433					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TCGTCGGGGAGACGCTGCTGT	0.592000														46			8		0	0	1	0	0
EIF5AL1	143244	broad.mit.edu	37	10	81272747	81272747	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81272747C>T	uc009xrx.3	+	0	391	c.342C>T	c.(340-342)ctC>ctT	p.L114L	AK302451_uc010qls.1_5'Flank	NM_001099692	NP_001093162	Q6IS14	IF5AL_HUMAN	Homo sapiens eukaryotic translation initiation factor 5A-like 1 (EIF5AL1), mRNA.	114					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			ACCTTCGTCTCCCTGAGGGAG	0.547000														137			25		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114267166	114267166	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:114267166G>A	uc003ibe.4	+	34	4459	c.4359G>A	c.(4357-4359)ccG>ccA	p.P1453P	ANK2_uc003ibd.4_Silent_p.P1444P|ANK2_uc003ibf.4_Silent_p.P1453P|ANK2_uc011cgc.2_Silent_p.P629P|ANK2_uc003ibg.4_Silent_p.P448P|ANK2_uc003ibh.4_Silent_p.P127P|ANK2_uc011cgb.1_Silent_p.P1468P	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1420					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.P1453P(4)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCACTTTGCCGATTTATACAA	0.393000														99			14		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102711167	102711167	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102711167G>A	uc001phj.1	-	4	848	c.783C>T	c.(781-783)tcC>tcT	p.S261S		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	261					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CACCATAGAGGGACTGAATGC	0.418000														67			35		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45929264	45929264	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45929264G>A	uc002zfe.1	-	9	1638	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F	TSPEAR_uc010gpv.1_Silent_p.F456F	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	524					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CTGCAGCACCGAACGTCTAGG	0.622000														30			8		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399472	40399472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:40399472C>T	uc003oph.1	-	1	1846	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	461	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGTACCTCATCGTCAGAGCAG	0.592000														50			21		0	0	1	0	0
SUSD1	64420	broad.mit.edu	37	9	114874094	114874094	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:114874094G>A	uc010mui.3	-	7	1052	c.1011C>T	c.(1009-1011)gaC>gaT	p.D337D	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Silent_p.D337D|SUSD1_uc010muj.3_Silent_p.D337D			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	337						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ATTCCATAGGGTCCAACCGTT	0.507000														48			22		0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28305321	28305321	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:28305321G>A	uc002ymg.3	-	4	2461	c.1732C>T	c.(1732-1734)Cag>Tag	p.Q578*		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	578	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGAGAACACTGGCCCCAGGAT	0.483000														30			9		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12725998	12725998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12725998C>T	uc001auf.3	+	3	476	c.476C>T	c.(475-477)tCc>tTc	p.S159F		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	159						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GACCACCATTCCCCTGCCCTT	0.527000														86			24		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117299059	117299059	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:117299059G>A	uc001prh.1	-	32	6329	c.6327C>T	c.(6325-6327)tcC>tcT	p.S2109S		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	2049					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)		CCAGGGTGTAGGATTTGGAGT	0.627000														70			25		0	0	1	0	0
WNT5A	7474	broad.mit.edu	37	3	55504230	55504230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:55504230C>T	uc003dhn.3	-	4	1351	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	WNT5A_uc003dhm.3_Missense_Mutation_p.D330N|WNT5A_uc010hmw.3_Missense_Mutation_p.D330N|WNT5A_uc010hmx.3_Missense_Mutation_p.D256N	NM_003392	NP_003383	P41221	WNT5A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5A (WNT5A), transcript variant 1, mRNA.	345					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of BMP signaling pathway|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell chemotaxis|positive regulation of angiogenesis|positive regulation of cGMP metabolic process|positive regulation of cartilage development|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TTGAACTGGTCGTAGCCACGG	0.617000														81			25		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181764142	181764142	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181764142C>T	uc009wxt.3	+	45	6365	c.6170C>T	c.(6169-6171)tCc>tTc	p.S2057F	CACNA1E_uc001gow.3_Missense_Mutation_p.S2014F|CACNA1E_uc009wxs.3_Missense_Mutation_p.S1995F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2057					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						TACCACTCCTCCTTGCGGCTG	0.542000														41			10		0	0	1	0	0
C8orf31	286122	broad.mit.edu	37	8	144126224	144126224	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144126224G>A	uc003yxp.1	+	3	697	c.345G>A	c.(343-345)gaG>gaA	p.E115E	C8orf31_uc003yxq.1_Non-coding_Transcript|C8orf31_uc003yxr.1_Non-coding_Transcript	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN	Homo sapiens chromosome 8 open reading frame 31 (C8orf31), mRNA.	115										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGAGCTGGGAGAGAGGGCAAG	0.622000														14			9		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138683650	138683650	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:138683650G>A	uc011mdq.2	+	29	3584	c.3510G>A	c.(3508-3510)atG>atA	p.M1170I	KCNT1_uc011mdr.2_Missense_Mutation_p.M1018I|KCNT1_uc010nbf.3_Missense_Mutation_p.M1146I	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	1170						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAGACGAGATGAACGACCACC	0.647000														103			30		0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201358367	201358367	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201358367G>A	uc001gwm.3	-	1	338	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	LAD1_uc009wzu.1_Missense_Mutation_p.R57C	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	35	Poly-Arg.					basement membrane	structural molecule activity	p.R35L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CTCAGGTTGCGGTGCCGCCGC	0.657000														44			19		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25965265	25965266	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:25965265_25965266GG>AA	uc002rgs.2	-	11	4161_4162	c.3940_3941CC>TT	c.(3940-3942)ccg>TTg	p.P1314L	ASXL2_uc002rgt.1_Missense_Mutation_p.P797L	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	1314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATACAACTTCGGGGTTTGCAGG	0.554000														9			6		0	0	1	0	0
MKNK1	8569	broad.mit.edu	37	1	47042299	47042299	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47042299G>A	uc001cqb.3	-	4	506	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	MKNK1_uc010omd.2_Silent_p.V17V|MKNK1_uc001cqc.3_Missense_Mutation_p.R88W|MKNK1_uc009vyi.3_Missense_Mutation_p.R88W|MKNK1_uc010ome.2_Silent_p.V17V|MKNK1_uc009vyj.3_Missense_Mutation_p.R33W|MKNK1_uc001cqd.2_Missense_Mutation_p.R76W|MKNK1_uc010omf.1_Missense_Mutation_p.R88W	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 1 (MKNK1), transcript variant 1, mRNA.	88	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					ACCCTACTCCGACTGTGCCCT	0.522000														103			36		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48753420	48753420	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48753420G>A	uc002isl.3	+	21	3116	c.3036G>A	c.(3034-3036)ctG>ctA	p.L1012L	ABCC3_uc002isn.3_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1012	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCCTGAGGCTGGGCGTCTATG	0.557000														48			5		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174326	150174326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150174326G>A	uc003whj.3	+	4	1786	c.1456G>A	c.(1456-1458)Gga>Aga	p.G486R		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	486						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.G486R(2)		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)		GACATGGGACGGACAGGAGGT	0.597000														37			24		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141740591	141740591	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141740591C>T	uc003vwy.3	+	20	2497	c.2443C>T	c.(2443-2445)Ctt>Ttt	p.L815F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	815	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGACTTCACCTTCGAGGAGG	0.478000														38			16		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33920725	33920725	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:33920725C>T	uc001zhi.3	+	20	2698	c.2628C>T	c.(2626-2628)atC>atT	p.I876I	RYR3_uc010bar.3_Silent_p.I876I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	876	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAAAACATCCATGAGCTTT	0.443000														67			17		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801491	185801491	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:185801491C>T	uc002uph.3	+	3	1962	c.1368C>T	c.(1366-1368)agC>agT	p.S456S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	456						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTTCCTATAGCTGTAATCCTC	0.353000														108			40		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13659684	13659684	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:13659684G>A	uc011avc.2	+	5	2220	c.1838G>A	c.(1837-1839)gGa>gAa	p.G613E	FBLN2_uc011auz.2_Missense_Mutation_p.G639E|FBLN2_uc011avb.2_Missense_Mutation_p.G613E|FBLN2_uc011ava.2_Missense_Mutation_p.G613E	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	613	EGF-like 1; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTCCTCCCGGGAGAGCTGTGC	0.632000														103			20		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086445	92086445	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92086445C>T	uc001pdj.4	+	0	1184	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	389	Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGAATTTTCCCCTCCTGGTG	0.403000										TCGA Ovarian(4;0.039)				20			11		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304276	10304276	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10304276C>T	uc002gmm.2	-	26	3350	c.3255_splice	c.e26-1	p.K1085_splice	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1085					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAAATTCTTTCCTTTAGACAG	0.333000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					30			20		0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157689119	157689119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:157689119C>T	uc003iph.2	-	4	1218	c.727G>A	c.(727-729)Gag>Aag	p.E243K	PDGFC_uc003ipi.2_Missense_Mutation_p.E80K|PDGFC_uc011cis.2_Missense_Mutation_p.E80K|PDGFC_uc011cir.2_Missense_Mutation_p.E87K	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	243					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CTTACCTCCTCTGTTAGAAGG	0.393000														146			67		0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141952311	141952311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141952311C>T	uc003vxb.3	-	3	877	c.557G>A	c.(556-558)gGa>gAa	p.G186E	PRSS58_uc003vxc.4_Missense_Mutation_p.G186E	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	186	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CTGCCTCCTTCCTGGCACAAT	0.423000														119			58		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454371	84454371	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:84454371G>A	uc001vlk.3	-	0	2158	c.1272C>T	c.(1270-1272)gaC>gaT	p.D424D		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	424						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCCACCTGAGGTCCAAAAGGT	0.468000														260			28		0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141694698	141694698	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:141694698G>A	uc010jgi.1	-	2	286	c.45C>T	c.(43-45)tcC>tcT	p.S15S	SPRY4_uc003lml.2_5'UTR|SPRY4_uc021yet.1_5'Flank	NM_030964	NP_001120968	Q9C004	SPY4_HUMAN	Homo sapiens sprouty homolog 4 (Drosophila) (SPRY4), transcript variant 1, mRNA.	0					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACTGTACGGAGAAACAGG	0.612000									Testicular Cancer, Familial Clustering of					21			6		0	0	1	0	0
SMAD6	4091	broad.mit.edu	37	15	67073660	67073660	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:67073660C>T	uc002aqf.3	+	3	2201	c.1278C>T	c.(1276-1278)gtC>gtT	p.V426V	SMAD6_uc010bhx.3_Non-coding_Transcript|SMAD6_uc002aqg.3_Silent_p.V165V	NM_005585	NP_005576	O43541	SMAD6_HUMAN	Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1, mRNA.	426	MH2.				BMP signaling pathway|immune response|negative regulation of BMP signaling pathway|negative regulation of SMAD protein complex assembly|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	I-SMAD binding|R-SMAD binding|co-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						GCGCCCTGGTCGTGCGCAAGG	0.731000														37			10		0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819535	17819535	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:17819535C>T	uc022btm.1	-	0	596	c.596G>A	c.(595-597)gGg>gAg	p.G199E	RAI2_uc004cyf.3_Missense_Mutation_p.G199E|RAI2_uc004cyg.3_Missense_Mutation_p.G199E|RAI2_uc011miy.2_Missense_Mutation_p.G149E|RAI2_uc022btl.1_Missense_Mutation_p.G199E|RAI2_uc004cyh.4_Missense_Mutation_p.G199E|RAI2_uc010nfa.3_Missense_Mutation_p.G199E	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	199					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGGTGGGGGCCCGAGAGTGCC	0.647000														20			18		0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68398989	68398989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:68398989C>T	uc002ewa.3	-	3	1752	c.1330G>A	c.(1330-1332)Gtg>Atg	p.V444M	SMPD3_uc010cfe.3_Missense_Mutation_p.V444M|SMPD3_uc010vlh.2_Missense_Mutation_p.V444M	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	444					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GTGCTTCCCACCTGCACCTGG	0.617000														35			12		0	0	1	0	0
LACC1	144811	broad.mit.edu	37	13	44464388	44464388	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:44464388C>T	uc010acg.3	+	5	1757	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G	LACC1_uc001uzf.4_Silent_p.G424G	NM_001128303	NP_694950	Q8IV20	CM031_HUMAN	Homo sapiens laccase (multicopper oxidoreductase) domain containing 1 (LACC1), transcript variant 1, mRNA.	424																	CACAGATTGGCTTCATATCAA	0.438000														64			20		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19758545	19758545	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19758545G>A	uc002nnh.4	-	19	2684	c.2656C>T	c.(2656-2658)Cct>Tct	p.P886S	ATP13A1_uc002nne.3_Missense_Mutation_p.P26S|ATP13A1_uc002nnf.4_Missense_Mutation_p.P254S|ATP13A1_uc002nng.3_Missense_Mutation_p.P768S	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	886					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						ACCCGCTCAGGGGCATTGGCC	0.682000														6			4		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144856938	144856938	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:144856938G>A	uc021ouh.1	-	39	6849	c.6547C>T	c.(6547-6549)Cac>Tac	p.H2183Y	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_Missense_Mutation_p.H2183Y|PDE4DIP_uc001elx.4_Missense_Mutation_p.H2077Y|PDE4DIP_uc001elv.4_Missense_Mutation_p.H1190Y	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2183					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)		TCATCAATGTGGCCAATGACA	0.517000			T	PDGFRB	MPD									66			8		0	0	1	0	0
PABPC1P2	728773	broad.mit.edu	37	2	147345601	147345601	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:147345601G>C	uc002twf.4	+	0	977	c.61G>C	c.(61-63)Gaa>Caa	p.E21Q						Homo sapiens poly(A) binding protein, cytoplasmic 1 pseudogene 2 (PABPC1P2), non-coding RNA.																		GTCTCCTAAAGAACAAGAAGC	0.423000														7			2		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171168627	171168627	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171168627G>A	uc001ghk.1	+	5	744	c.627_splice	c.e5+1	p.Q209_splice	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	209					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGCTGCTCAGGTGTGATGCT	0.498000														97			16		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127323759	127323759	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:127323759G>A	uc003ejp.3	+	3	490	c.433G>A	c.(433-435)Gag>Aag	p.E145K	MCM2_uc011bkm.2_Missense_Mutation_p.E15K|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Missense_Mutation_p.E29K	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	145	Interaction with MYST2 (By similarity).				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GGAGGACGAGGAGCGCCCTGC	0.647000														20			12		0	0	1	0	0
C1QTNF5	114902	broad.mit.edu	37	11	119216557	119216557	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:119216557G>A	uc010rzg.1	-	3	513	c.353C>T	c.(352-354)aCc>aTc	p.T118I	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	118	Poly-Thr.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ggtggtgatggtgggggtggt	0.657000														61			27		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755960	140755960	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140755960C>T	uc003ljy.2	+	0	2310	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Silent_p.F770F	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	779					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)			ATCTGATTTTCCCCCAGCCCA	0.517000														120			32		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56247040	56247040	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:56247040G>A	uc002lhj.4	-	3	1182	c.968C>T	c.(967-969)tCa>tTa	p.S323L		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	323							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTCATCATCTGAAAACTCCTC	0.458000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		204			24		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64390363	64390363	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64390363G>A	uc021qkw.1	-	20	4497	c.4035C>T	c.(4033-4035)tcC>tcT	p.S1345S	NRXN2_uc021qkx.1_Silent_p.S1275S|NRXN2_uc001oas.3_Silent_p.S1275S|NRXN2_uc001oao.3_5'UTR|NRXN2_uc001oap.3_Silent_p.S299S|NRXN2_uc001oaq.3_Silent_p.S1012S	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1345	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding	p.S1345S(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGAGCAGCACGGACGGCCCCT	0.672000														16			10		0	0	1	0	0
SNX14	57231	broad.mit.edu	37	6	86277262	86277262	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:86277262G>A	uc003pkr.3	-	4	644	c.451C>T	c.(451-453)Ccg>Tcg	p.P151S	SNX14_uc003pkp.3_Missense_Mutation_p.P14S|SNX14_uc003pkq.3_5'UTR|SNX14_uc011dzg.2_Missense_Mutation_p.P99S|SNX14_uc003pks.3_Intron|SNX14_uc003pkt.3_Missense_Mutation_p.P151S	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	151	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CTGTACCACGGATAAACAAAG	0.274000														60			21		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908361	164908361	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:164908361C>A	uc003fej.4	-	1	702	c.258G>T	c.(256-258)agG>agT	p.R86S	SLITRK3_uc003fek.3_Missense_Mutation_p.R86S|SLITRK3_uc021xgy.1_Missense_Mutation_p.R86S	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	86						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCATAGAATTCCTCTGCAGAT	0.348000										HNSCC(40;0.11)				68			33		4.02929e-09	4.04282e-09	1	1	0
OR8D1	283159	broad.mit.edu	37	11	124180569	124180569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124180569G>A	uc010sag.2	-	0	94	c.94C>T	c.(94-96)Ctg>Ttg	p.L32L		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	32					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)		TAGATTCCCAGGAACAGGAGG	0.483000														137			18		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182358140	182358140	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:182358140C>T	uc002unu.3	+	10	2005	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F		NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	414					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CGTCAACCTTCTCACAGGTAA	0.368000														83			33		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80366371	80366371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:80366371G>A	uc003kha.2	+	3	654	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.E30K	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	202					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCAAGAAGACGAAGATCCAGA	0.428000														80			35		0	0	1	0	0
C1orf187	374946	broad.mit.edu	37	1	11766354	11766354	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11766354C>T	uc001asr.1	+	1	179	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	Homo sapiens chromosome 1 open reading frame 187 (C1orf187), mRNA.	13					Wnt receptor signaling pathway|axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway	extracellular region				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(2)	15	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		CCATGCTGTTCCTCGTCCTCC	0.652000														22			10		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415765	19415765	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19415765C>T	uc010tcj.1	-	0		c.30345G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTGGGTTAATCTGTCAGCAGC	0.343000														58			18		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33577900	33577900	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33577900G>A	uc002xbi.2	+	20	2294	c.1977G>A	c.(1975-1977)caG>caA	p.Q659Q	MIR499A_uc021wcg.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	617	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity	p.Q659H(2)|p.Q659K(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGAAGTCACAGAATAGGCTCC	0.547000														103			55		0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197890485	197890486	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197890485_197890486GG>AA	uc001guk.1	+	2	866_867	c.429_430GG>AA	c.(427-432)tcggag>tcAAag	p.E144K	LHX9_uc001gui.1_Missense_Mutation_p.E135K	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	144	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.E144*(2)|p.E135*(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TTTCCGCCTCGGAGATGGTCAT	0.574000														64			24		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060664	9060664	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9060664C>T	uc002mkp.3	-	2	26986	c.26782G>A	c.(26782-26784)Gag>Aag	p.E8928K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8930	Ser-rich.|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						GCCTCTGTCTCCATGGTGGCT	0.488000														184			63		0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24669185	24669185	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24669185G>A	uc021oiw.1	+	10	1437	c.1207_splice	c.e10-1	p.G403_splice	GRHL3_uc001bix.3_Splice_Site_p.G403_splice|GRHL3_uc021oix.1_Splice_Site_p.G357_splice|GRHL3_uc001biy.3_Splice_Site_p.G408_splice|GRHL3_uc001biz.3_Splice_Site_p.G310_splice	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	403					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCCCTGCAGGGAGCTGAGAGG	0.587000														112			39		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057917	63057917	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63057917C>T	uc009yor.3	+	0	488	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.P42S	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	94						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTTGTCCATCCCCAGTGGCA	0.488000														112			57		0	0	1	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107019899	107019899	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:107019899C>T	uc003prj.3	-	8	1640	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	RTN4IP1_uc010kdd.3_3'UTR|RTN4IP1_uc003prk.3_Missense_Mutation_p.R288Q	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	Homo sapiens reticulon 4 interacting protein 1 (RTN4IP1), nuclear gene encoding mitochondrial protein, mRNA.	388						mitochondrion	oxidoreductase activity|zinc ion binding	p.A387T(1)		breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		AGTCTTTCCTCGTGCGTGTCC	0.383000														34			22		0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42754799	42754799	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42754799C>T	uc003cly.4	-	13	1812	c.1728G>A	c.(1726-1728)gaG>gaA	p.E576E		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	576										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TGCTGTTGCTCTCCTCCACCC	0.612000														117			12		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169484792	169484792	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169484792C>T	uc001ggg.1	-	23	6563	c.6418G>A	c.(6418-6420)Ggc>Agc	p.G2140S		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	2140	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GACTTGCAGCCCTGTGTTATA	0.398000														126			46		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50964978	50964978	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50964978G>A	uc009xog.3	-	1	334	c.300C>T	c.(298-300)ttC>ttT	p.F100F	OGDHL_uc001jie.3_Silent_p.F73F|OGDHL_uc010qgt.2_Intron|OGDHL_uc010qgu.2_Intron|OGDHL_uc009xoh.2_5'UTR	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	73					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CTTCCCTGAAGAAGCTGTCCC	0.612000														61			17		0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40030920	40030920	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:40030920G>A	uc001cdl.2	-	7	2001	c.1103C>T	c.(1102-1104)gCc>gTc	p.A368V	PABPC4_uc010oiv.1_Missense_Mutation_p.A368V|PABPC4_uc001cdm.2_Missense_Mutation_p.A368V	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	368	RRM 4.				RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTTCCTCTGGGCCAGGGCAAC	0.498000														50			5		0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67402484	67402484	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67402484G>A	uc001omp.3	-	1	346	c.258C>T	c.(256-258)atC>atT	p.I86I		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	86					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						CCTTGGTGACGATCATCTCAG	0.647000														30			14		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20150048	20150048	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:20150048C>T	uc002wru.3	+	12	1443	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	C20orf26_uc010zse.2_Silent_p.F423F|C20orf26_uc010zsf.1_Silent_p.F443F	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	443										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)		TGGTCCCTTTCAACACCTGCA	0.473000														92			31		0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1240646	1240646	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1240646G>A	uc003jby.2	+	7	969	c.846_splice	c.e7-1	p.R282_splice		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	282					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.R282R(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTGTGCCCAGGAATGACTGCC	0.587000														36			21		0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39755530	39755530	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:39755530G>A	uc010gnw.3	-	11	1551	c.1256C>T	c.(1255-1257)cCc>cTc	p.P419L	ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Missense_Mutation_p.P412L|ERG_uc011aek.2_Missense_Mutation_p.P320L|ERG_uc010gnv.3_Missense_Mutation_p.P296L|ERG_uc010gnx.3_Missense_Mutation_p.P395L|ERG_uc011ael.2_Missense_Mutation_p.P419L|ERG_uc002yxb.3_Missense_Mutation_p.P395L	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	419					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				GAGGTCTGAGGGGTACTTGTA	0.607000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									80			24		0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121652342	121652342	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:121652342C>T	uc001leu.2	+	0	258	c.48C>T	c.(46-48)tcC>tcT	p.S16S	SEC23IP_uc010qtc.2_5'UTR	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	16	Interaction with SEC23A.				Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CCTCCACTTCCTCATCGGGCA	0.627000														32			8		0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31608171	31608171	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31608171T>G	uc002wyj.3	+	11	1312	c.1118T>G	c.(1117-1119)gTg>gGg	p.V373G		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	373						extracellular region	lipid binding										GTGTCCAAGGTGAAGCTTCAG	0.612000														61			17		0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13695737	13695737	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:13695737G>A	uc002woj.3	-	13	2448	c.2340C>T	c.(2338-2340)ttC>ttT	p.F780F		NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	780	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTGTTTTCTTGAAATTGGGAT	0.388000														106			42		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662562	662562	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:662562C>T	uc001qii.1	+	13	1473	c.1473C>T	c.(1471-1473)tcC>tcT	p.S491S	B4GALNT3_uc001qij.1_Silent_p.S394S|B4GALNT3_uc001qik.1_Silent_p.S40S	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	491						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCCCTTCTCCAAGCGGAACT	0.642000														91			9		0	0	1	0	0
ATL1	51062	broad.mit.edu	37	14	51054653	51054653	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:51054653G>A	uc021rsw.1	+	1	380	c.139G>A	c.(139-141)Gag>Aag	p.E47K	ATL1_uc001wyd.4_Missense_Mutation_p.E47K|ATL1_uc001wyf.4_Missense_Mutation_p.E47K|ATL1_uc001wye.4_Missense_Mutation_p.E47K|ATL1_uc021rsx.1_Missense_Mutation_p.E47K	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	47					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CCATTCCTTTGAGTTAGATGA	0.438000														139			57		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33473940	33473940	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:33473940C>T	uc003zsz.3	-	1	1	c.-100_splice	c.e1-1		NOL6_uc003zta.3_Splice_Site|NOL6_uc010mjv.3_Splice_Site|NOL6_uc011lob.2_Splice_Site|NOL6_uc003ztb.1_Splice_Site	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.						rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGCCCAAGTCCAGCCCACCCC	0.577000														11			6		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7242035	7242035	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7242035G>A	uc010sfy.2	-	4	681	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	C1R_uc010sfz.1_Silent_p.L222L|C1R_uc021quh.1_Silent_p.L97L|C1R_uc010sga.1_Silent_p.L174L	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	208	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	GGGTACTCCAGGCTGGAGATG	0.632000														15			23		0	0	1	0	0
LIM2	3982	broad.mit.edu	37	19	51890686	51890686	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51890686G>A	uc002pwl.2	-	1	56	c.12C>T	c.(10-12)ttC>ttT	p.F4F	LIM2_uc002pwm.2_Silent_p.F4F	NM_030657	NP_085915	P55344	LMIP_HUMAN	Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA.	4					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CACCACCCATGAAGCTGTACA	0.607000														45			20		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398676	89398676	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89398676C>T	uc010upo.1	+	11	3234	c.2860C>T	c.(2860-2862)Ctc>Ttc	p.L954F	ACAN_uc010upp.1_Missense_Mutation_p.L954F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	954					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)			AGTTGGGGATCTCAGTGGACT	0.557000														108			75		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56094424	56094424	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:56094424C>T	uc010giw.1	-	3	875	c.764G>A	c.(763-765)gGa>gAa	p.G255E	CTCFL_uc010gix.1_Missense_Mutation_p.G255E|CTCFL_uc002xym.2_Missense_Mutation_p.G255E|CTCFL_uc010gjb.1_Missense_Mutation_p.G255E|CTCFL_uc010gja.1_Missense_Mutation_p.G255E|CTCFL_uc010gjc.1_Missense_Mutation_p.G255E|CTCFL_uc010gjd.1_Missense_Mutation_p.G255E|CTCFL_uc010gje.3_Missense_Mutation_p.G255E|CTCFL_uc010gjg.3_5'UTR|CTCFL_uc010gjf.3_Missense_Mutation_p.G50E|CTCFL_uc010gjh.2_Missense_Mutation_p.G255E|CTCFL_uc010gji.2_Missense_Mutation_p.G50E|CTCFL_uc010gjj.2_Missense_Mutation_p.G255E|CTCFL_uc021wfe.1_Missense_Mutation_p.G255E|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_5'UTR|CTCFL_uc010gjk.1_Missense_Mutation_p.G255E|CTCFL_uc010gjl.1_Missense_Mutation_p.G255E	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	255					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GTGGAAGGTTCCTTTTGCTCC	0.378000														137			63		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169697037	169697037	+	Silent	SNP	C	T	T	rs144324234	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169697037C>T	uc001ggm.4	-	8	1468	c.1311G>A	c.(1309-1311)ccG>ccA	p.P437P	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	437	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CCAAACCCTTCGGGGGCTGGT	0.488000														90			29		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94711930	94711930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94711930G>A	uc001ycs.1	+	12	1505	c.1351G>A	c.(1351-1353)Gat>Aat	p.D451N		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	451						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AAAGGTACTAGATGCTCTTAT	0.308000														66			23		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100385647	100385647	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100385647C>T	uc003uwj.3	+	38	7278	c.7113C>T	c.(7111-7113)ctC>ctT	p.L2371L	ZAN_uc003uwk.3_Silent_p.L2371L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.L422L	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2372	VWFD 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGCCCCTCCTCGTGGAAGGAC	0.557000														52			19		0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661548	36661548	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:36661548G>A	uc003ape.3	+	6	988	c.714G>A	c.(712-714)ggG>ggA	p.G238G	APOL1_uc011amn.1_Silent_p.G99G|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Silent_p.G99G|APOL1_uc003apf.3_Silent_p.G222G|APOL1_uc011amp.2_Silent_p.G222G|APOL1_uc011amq.2_Silent_p.G204G|APOL1_uc010gwx.3_Silent_p.G99G	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	222					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTTTGACCGGGATTACCAGCA	0.557000														99			24		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169183279	169183279	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169183279C>T	uc003irp.3	-	24	3437	c.3145_splice	c.e24-1	p.E1049_splice		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1049							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)		GGGCACAGTTCCTTGAAAACA	0.308000														43			18		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13870920	13870920	+	Silent	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13870920T>G	uc003jfd.2	-	23	3832	c.3790A>C	c.(3790-3792)Agg>Cgg	p.R1264R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1264	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I1263V(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCTCCTCCCTTATTTCTTTC	0.328000									Kartagener syndrome					57			16		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678659	100678659	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100678659C>T	uc003uxp.1	+	2	4015	c.3962C>T	c.(3961-3963)cCt>cTt	p.P1321L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1321	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTCCTACACCTGCTGAAGGT	0.473000														445			111		0	0	1	0	0
LOC338651	338651	broad.mit.edu	37	11	1619373	1619373	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1619373C>T	uc009ycx.1	+	1	1224	c.473C>T	c.(472-474)cCc>cTc	p.P158L	MOB2_uc001ltq.2_Intron|LOC338651_uc001ltt.1_Non-coding_Transcript|KRTAP5-2_uc001ltv.3_Silent_p.G36G					Homo sapiens uncharacterized LOC338651 (LOC338651), non-coding RNA.																		AGCCACAGCCCCCACGGCCGG	0.687000														71			33		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1427378	1427378	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:1427378G>A	uc003boz.3	+	19	2868	c.2601G>A	c.(2599-2601)acG>acA	p.T867T	CNTN6_uc011asj.2_Silent_p.T795T|CNTN6_uc003bpa.3_Silent_p.T867T	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	867	Fibronectin type-III 3.				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)		AAAACATCACGGGGCTGAAAG	0.428000														128			50		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883384	228883384	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228883384C>T	uc002vpq.2	-	6	2233	c.2186G>A	c.(2185-2187)cGg>cAg	p.R729Q	SPHKAP_uc002vpp.2_Missense_Mutation_p.R729Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.R729Q	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	729						cytoplasm	protein binding	p.R729W(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCACCAAGCCGTACAATATG	0.453000														123			39		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6180466	6180466	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6180466G>A	uc001qnn.1	-	9	1403	c.1153C>T	c.(1153-1155)Cca>Tca	p.P385S	VWF_uc010set.1_Missense_Mutation_p.P385S	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	385					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CGCCTACCTGGACATTCTTCA	0.542000														35			16		0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203025996	203025996	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203025996C>T	uc009xaj.3	+	23	2700	c.2700C>T	c.(2698-2700)atC>atT	p.I900I	PPFIA4_uc010pqf.2_Silent_p.I482I|PPFIA4_uc001gyz.3_Silent_p.I269I|PPFIA4_uc001gza.3_Silent_p.I269I|PPFIA4_uc001gzb.1_5'UTR			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	269					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GCAAGGGCATCAAGTCGTCCA	0.617000														35			12		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58155425	58155425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58155425C>T	uc003djj.2	+	44	7691	c.7526C>T	c.(7525-7527)tCc>tTc	p.S2509F	FLNB_uc010hne.2_Missense_Mutation_p.S2540F|FLNB_uc003djk.2_Missense_Mutation_p.S2498F|FLNB_uc010hnf.2_Missense_Mutation_p.S2485F|FLNB_uc003djl.2_Missense_Mutation_p.S2329F|FLNB_uc003djm.2_Missense_Mutation_p.S2316F|BC041347_uc003djn.3_Intron	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2509	Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail (By similarity).				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCAAGGCATCCTCGGACGCC	0.582000														89			40		0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55610167	55610167	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55610167G>A	uc002qix.3	-	5	952	c.936C>T	c.(934-936)gcC>gcT	p.A312A	PPP1R12C_uc010yfs.2_Silent_p.A238A|PPP1R12C_uc002qiy.3_Silent_p.A312A	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	312						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCTGTTTCCGGGCCAGTTCCT	0.637000														51			19		0	0	1	0	0
PDK2	5164	broad.mit.edu	37	17	48182768	48182768	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48182768C>T	uc002iqc.3	+	2	455	c.294C>T	c.(292-294)ttC>ttT	p.F98F	PDK2_uc002iqb.3_Silent_p.F34F|PDK2_uc021tzw.1_Silent_p.F98F|PDK2_uc021tzx.1_Silent_p.F34F	NM_002611	NP_001186828	Q15119	PDK2_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 2 (PDK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	98					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						TCATGGAGTTCCTGGACAAGG	0.637000									Autosomal Dominant Polycystic Kidney Disease					23			10		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108010940	108010940	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:108010940C>T	uc001tmk.1	+	7	2597	c.2076C>T	c.(2074-2076)ctC>ctT	p.L692L	BTBD11_uc009zut.1_Silent_p.L692L|BTBD11_uc001tmj.3_Silent_p.L692L|BTBD11_uc001tml.1_Silent_p.L229L	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	692						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAACACCCCTCCAGCTGGCAG	0.587000														106			17		0	0	1	0	0
C18orf25	147339	broad.mit.edu	37	18	43796275	43796276	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:43796275_43796276CC>TT	uc002lbw.3	+	1	808_809	c.429_430CC>TT	c.(427-432)tcccga>tcTTga	p.R144*	C18orf25_uc002lbx.3_Nonsense_Mutation_p.R144*	NM_145055	NP_659492	Q96B23	CR025_HUMAN	Homo sapiens chromosome 18 open reading frame 25 (C18orf25), transcript variant 1, mRNA.	144										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						CTAGGCGGTCCCGATCTGAAAG	0.535000														100			7		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117072882	117072882	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117072882C>T	uc011lxl.2	+	60	5490	c.5490C>T	c.(5488-5490)ccC>ccT	p.P1830P	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_Silent_p.P145P	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1830	Fibrillar collagen NC1.				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						CCCAAGACCCCCAACAGCTGC	0.557000														77			10		0	0	1	0	0
EMID2	136227	broad.mit.edu	37	7	101183219	101183219	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:101183219G>A	uc010lhy.1	+	4	679	c.487G>A	c.(487-489)Gac>Aac	p.D163N	EMID2_uc003uyo.1_Missense_Mutation_p.D165N	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	Homo sapiens EMI domain containing 2 (EMID2), mRNA.	165						collagen				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	18	Lung NSC(181;0.215)					CCCGGACAACGACCTGCCAGC	0.632000														43			12		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32259443	32259443	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32259443C>T	uc001bts.1	-	11	2497	c.2439G>A	c.(2437-2439)ggG>ggA	p.G813G	SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btu.3_Silent_p.G813G|SPOCD1_uc001btv.3_Silent_p.G306G|SPOCD1_uc021oks.1_Silent_p.G118G	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	813					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGATATTGTCCCCGCAGCTCT	0.577000														185			55		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870051	4870051	+	Missense_Mutation	SNP	G	A	A	rs139421041		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4870051G>A	uc010qyo.2	-	0	388	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R130W(2)|p.R130R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCAGTGCCCGATCAATGGAC	0.522000														99			45		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929987	121929987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:121929987C>T	uc004bkc.2	-	7	2117	c.1661G>A	c.(1660-1662)aGc>aAc	p.S554N		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	554					cell cycle arrest|cell death	cytoplasm	protein binding			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						GTCCAGGCTGCTGTTGCGCAT	0.567000														34			10		0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128608858	128608858	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:128608858C>T	uc003ifk.2	+	7	1388	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	INTU_uc011cgq.2_Intron	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	429										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TGAGAATGTTCCTCGTTTGGA	0.438000														96			31		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066136	23066136	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:23066136C>T	uc002wsv.3	-	0	842	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	232					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTCTGAGTCTCGTCCTTGTCA	0.597000														129			47		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2376115	2376115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2376115G>A	uc002cpy.1	-	4	927	c.215C>T	c.(214-216)cCt>cTt	p.P72L	ABCA3_uc010bsk.1_Missense_Mutation_p.P72L|ABCA3_uc010bsl.1_Missense_Mutation_p.P72L|ABCA3_uc002cpz.1_Missense_Mutation_p.P72L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	72					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TCCTGGCGGAGGGAAGGTGAA	0.577000														50			10		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38949934	38949934	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38949934G>A	uc002oit.3	+	18	2446	c.2316G>A	c.(2314-2316)ctG>ctA	p.L772L	RYR1_uc002oiu.3_Silent_p.L772L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	772	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTTCAACCTGGACGGGCTCT	0.602000														46			14		0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17462538	17462538	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:17462538G>A	uc002wpm.3	+	11	2094	c.1740G>A	c.(1738-1740)caG>caA	p.Q580Q	PCSK2_uc002wpl.3_Silent_p.Q561Q|PCSK2_uc010zrm.2_Silent_p.Q545Q|PCSK2_uc002wpn.3_Silent_p.Q234Q	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	580					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCGCCCCGCAGAAGGGGGTGC	0.617000														28			9		0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26484791	26484791	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:26484791C>T	uc003gse.1	-	3	894	c.741G>A	c.(739-741)aaG>aaA	p.K247K		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	247					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TAGCAGACTTCTTCTGGCTAG	0.373000														140			53		0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76780412	76780412	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:76780412G>A	uc001sye.1	-	12	1861	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	OSBPL8_uc001syf.1_Missense_Mutation_p.R419C|OSBPL8_uc001syg.1_Missense_Mutation_p.R419C|OSBPL8_uc001syh.1_Missense_Mutation_p.R436C	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	Homo sapiens oxysterol binding protein-like 8 (OSBPL8), transcript variant 1, mRNA.	461					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTCTTCAAACGGAAATAAGGA	0.274000														121			13		0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7329010	7329010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7329010G>A	uc002ggw.3	+	0	76	c.3G>A	c.(1-3)atG>atA	p.M1I	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	1						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCCCCTCCATGGAAAACCAGC	0.607000														62			7		0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991299	21991299	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:21991299C>T	uc002nqj.3	-	3	1670	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	ZNF43_uc002nql.3_Missense_Mutation_p.E508K|ZNF43_uc002nqm.3_Missense_Mutation_p.E508K|ZNF43_uc010ecv.3_Missense_Mutation_p.E508K|ZNF43_uc002nqk.3_Missense_Mutation_p.E444K	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTGCCACATTCTTCACATTTG	0.373000														107			23		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131519662	131519662	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:131519662G>A	uc021voy.1	+	0	17	c.17G>A	c.(16-18)gGa>gAa	p.G6E	FAM123C_uc002trw.2_Missense_Mutation_p.G6E|FAM123C_uc010fmv.2_Missense_Mutation_p.G6E|FAM123C_uc010fms.1_Missense_Mutation_p.G6E|FAM123C_uc010fmt.1_Missense_Mutation_p.G6E|FAM123C_uc010fmu.1_Missense_Mutation_p.G6E	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	6										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CTGAAGAGAGGAAAGACCTTC	0.622000														16			3		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117639386	117639386	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:117639386C>T	uc003pxp.1	-	36	6169	c.5970G>A	c.(5968-5970)gaG>gaA	p.E1990E	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Silent_p.E316E	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1990	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATTCAATCTTCTCCTGGTCTG	0.393000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									29			24		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72351061	72351061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72351061C>T	uc002jkm.4	+	18	2985	c.2847C>T	c.(2845-2847)ctC>ctT	p.L949L		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	949					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AAGTCAAACTCCCTCCAAGCC	0.612000														7			3		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117825450	117825450	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117825450C>T	uc004bjj.4	-	12	4191	c.3779G>A	c.(3778-3780)gGa>gAa	p.G1260E	TNC_uc010mvf.3_Missense_Mutation_p.G1260E|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1260	Fibronectin type-III 8.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGTGAGGTTTCCCATATCTGG	0.493000														33			14		0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34018827	34018827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:34018827G>A	uc002yqh.2	-	23	3240	c.3240C>T	c.(3238-3240)tcC>tcT	p.S1080S	SYNJ1_uc011ads.1_Silent_p.S1036S|SYNJ1_uc002yqf.2_Silent_p.S1041S|SYNJ1_uc002yqg.2_Silent_p.S1036S|SYNJ1_uc002yqi.2_Silent_p.S1080S	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1041	Pro-rich.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AAGAGCTGGGGGAAGTACCAA	0.522000														106			6		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96447569	96447569	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96447569C>T	uc001kjv.4	+	1	537	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	CYP2C19_uc001kjw.4_Silent_p.L71L|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.2_5'Flank	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	71					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.L71L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GTATTTTGGCCTGAAGCCCAT	0.418000														249			29		0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549183	158549183	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158549183G>A	uc010pin.2	-	0	507	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F169F(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GAGAGATAAAGAAGCCTGCAG	0.468000														35			17		0	0	1	0	0
SOST	50964	broad.mit.edu	37	17	41836020	41836020	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:41836020C>T	uc002iec.1	-	0	137	c.90G>A	c.(88-90)aaG>aaA	p.K30K		NM_025237	NP_079513	Q9BQB4	SOST_HUMAN	Homo sapiens sclerostin (SOST), mRNA.	30					Wnt receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly		heparin binding|protein binding			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		TGGCATCATTCTTGAACGCCT	0.622000														36			34		0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121613	50121613	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50121613C>T	uc001jhd.3	-	0	668	c.588G>A	c.(586-588)gaG>gaA	p.E196E	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.E196E	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	196						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CATACAAGTTCTCCAGCCTCC	0.493000														83			35		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3740659	3740659	+	Missense_Mutation	SNP	C	T	T	rs144286949		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3740659C>T	uc010xhv.2	+	12	1840	c.1840C>T	c.(1840-1842)Cgt>Tgt	p.R614C	TJP3_uc010xhs.2_Missense_Mutation_p.R581C|TJP3_uc010xht.2_Missense_Mutation_p.R545C|TJP3_uc010xhu.2_Missense_Mutation_p.R590C|TJP3_uc010xhw.2_Missense_Mutation_p.R600C	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	595	Guanylate kinase-like.					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)		GCGGGGTCTTCGTCGAGGAGC	0.692000														18			12		0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202593359	202593359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:202593359G>A	uc002uyo.3	-	14	3073	c.2717C>T	c.(2716-2718)tCc>tTc	p.S906F	ALS2_uc002uyp.4_Missense_Mutation_p.S906F|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	906	PH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CTTCCTCAAGGAATCCTGGAA	0.383000														54			24		0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177632728	177632728	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:177632728C>T	uc003ius.1	-	3	1059	c.629G>A	c.(628-630)cGa>cAa	p.R210Q		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	210					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		AGACATGCATCGGCAGGAAGT	0.393000														130			10		0	0	1	0	0
ZNF645	158506	broad.mit.edu	37	X	22292286	22292286	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:22292286G>A	uc004dai.2	+	0	1257	c.1178G>A	c.(1177-1179)tGg>tAg	p.W393*		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	Homo sapiens zinc finger protein 645 (ZNF645), mRNA.	393						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGGCCTGCATGGAAACGACTG	0.448000														39			25		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3730080	3730080	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3730080C>T	uc010xhv.2	+	2	270	c.270C>T	c.(268-270)tcC>tcT	p.S90S	TJP3_uc010xhs.2_Silent_p.S71S|TJP3_uc010xht.2_Silent_p.S35S|TJP3_uc010xhu.2_Silent_p.S80S|TJP3_uc010xhw.2_Silent_p.S90S	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	71	PDZ 1.					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)		ATGCCACCTCCGCGTTTGCCA	0.597000														100			34		0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130319507	130319507	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:130319507C>T	uc010scd.2	+	0	639	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	213					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCAAGCGTTTCGTGTCTATCC	0.667000														6			7		0	0	1	0	0
CCT3	7203	broad.mit.edu	37	1	156294849	156294849	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156294849G>A	uc001fol.2	-	5	567	c.336C>T	c.(334-336)ttC>ttT	p.F112F	CCT3_uc010phj.2_Silent_p.F66F|CCT3_uc010phk.2_Silent_p.F66F|CCT3_uc001fon.2_Silent_p.F74F|CCT3_uc010phl.2_Silent_p.F66F	NM_005998	NP_005989	P49368	TCPG_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 3 (gamma) (CCT3), transcript variant 1, mRNA.	112					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GCTGCTCCAGGAAGTGCTCAG	0.428000														69			15		0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77419463	77419463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:77419463G>A	uc001sym.4	-	11	2676	c.2440C>T	c.(2440-2442)Cct>Tct	p.P814S	E2F7_uc009zse.3_Intron	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	Homo sapiens E2F transcription factor 7 (E2F7), mRNA.	814					cell cycle	transcription factor complex	DNA binding|identical protein binding	p.P814S(3)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TGAAGCTGAGGGTCTGCAGAA	0.537000														61			37		0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81095509	81095509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:81095509C>T	uc002fgc.4	-	3	704	c.445G>A	c.(445-447)Gac>Aac	p.D149N	C16orf46_uc010chf.3_Missense_Mutation_p.D149N|C16orf46_uc010vno.2_5'UTR	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	149								p.D149G(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						AAGCAGATGTCGCTAATTGCC	0.557000														229			55		0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101816796	101816796	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:101816796C>T	uc001kql.2	-	5	1245	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	329	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.R328L(1)|p.R328W(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ATTAGGGCTTCCCGATTACCC	0.463000														252			82		0	0	1	0	0
RNF125	54941	broad.mit.edu	37	18	29645969	29645969	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29645969C>T	uc002kxf.1	+	4	991	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_017831	NP_060301	Q96EQ8	RN125_HUMAN	Homo sapiens ring finger protein 125 (RNF125), mRNA.	203					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						ATGATGATTTCATAGTAAGTA	0.328000														82			34		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74640336	74640336	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74640336G>A	uc002axt.2	-	1	485	c.330C>T	c.(328-330)ctC>ctT	p.L110L	CYP11A1_uc002axs.2_5'UTR|CYP11A1_uc010bjm.1_Intron|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.3_Silent_p.L110L	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	110					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CGGACTTAAAGAGAAGGGCCA	0.577000														66			14		0	0	1	0	0
ZNF549	256051	broad.mit.edu	37	19	58049491	58049491	+	Silent	SNP	C	T	T	rs138206012		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58049491C>T	uc002qpb.2	+	3	1368	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S	ZNF549_uc002qpa.2_Silent_p.S360S	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTATTCATTCCTATGACCGCA	0.443000														59			24		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61028342	61028342	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61028342C>T	uc010qif.1	-	7	1045	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	FAM13C_uc010qid.2_Missense_Mutation_p.E222K|FAM13C_uc001jkn.3_Missense_Mutation_p.E305K|FAM13C_uc001jko.3_Missense_Mutation_p.E305K|FAM13C_uc010qie.2_Missense_Mutation_p.E222K|FAM13C_uc001jkp.3_Missense_Mutation_p.E222K	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	305										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCAAATTTTTCTTCAAATTTC	0.493000														55			19		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99640764	99640764	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:99640764C>T	uc001yga.3	-	3	2676	c.2409G>A	c.(2407-2409)aaG>aaA	p.K803K	BCL11B_uc001ygb.3_Silent_p.K732K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	803						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TCTTGAACACCTTGCCGCAGT	0.711000			T	TLX3	T-ALL									19			4		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55272965	55272965	+	Silent	SNP	C	T	T	rs143770509		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55272965C>T	uc003tqk.3	+	27	3534	c.3288C>T	c.(3286-3288)tcC>tcT	p.S1096S	EGFR_uc022adn.1_Silent_p.S1051S|EGFR_uc011kco.2_Silent_p.S1043S	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	1096					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TAAACCAGTCCGTTCCCAAAA	0.527000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				43			11		0	0	1	0	0
UBR3	130507	broad.mit.edu	37	2	170897468	170897468	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170897468T>C	uc010zdi.2	+	31	4633	c.4633T>C	c.(4633-4635)Tta>Cta	p.L1545L	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_Silent_p.L366L|UBR3_uc002uft.4_Silent_p.L402L|UBR3_uc010zdj.2_Silent_p.L236L|UBR3_uc002ufu.4_Silent_p.L51L	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1545					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CATCCAGATCTTAATGATGCC	0.328000														75			8		0	0	1	0	0
VWA1	64856	broad.mit.edu	37	1	1374575	1374575	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1374575C>T	uc001afs.3	+	2	972	c.746C>T	c.(745-747)cCc>cTc	p.P249L	VWA1_uc001afr.3_3'UTR	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	Homo sapiens von Willebrand factor A domain containing 1 (VWA1), transcript variant 1, mRNA.	249	Fibronectin type-III 1.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAGCTGGTGCCCAGCGCCCAG	0.701000														25			3		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983591	97983591	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:97983591G>A	uc003dsi.1	+	0	463	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TATGACCAATGAACTATGCAT	0.363000														103			44		0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72360181	72360181	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:72360181G>A	uc002sih.1	-	4	1117	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C	CYP26B1_uc010yra.1_Missense_Mutation_p.R356C|CYP26B1_uc010yrb.1_Missense_Mutation_p.R298C	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	373					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						AGCACAGTGCGGTAGCCGCCG	0.682000														54			21		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137642657	137642657	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:137642657G>A	uc004cfe.3	+	12	1973	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	531	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G530G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGTGGCGGCGATGCGGGCTC	0.637000														46			10		0	0	1	0	0
TRIM72	493829	broad.mit.edu	37	16	31232216	31232216	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31232216G>A	uc002ebn.2	+	5	1002	c.718_splice	c.e5-1	p.K240_splice		NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.	240					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						TCTCTCTCCAGAAATACTGCC	0.542000														103			36		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78071109	78071109	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:78071109C>T	uc010dht.3	+	18	3118	c.3087C>T	c.(3085-3087)tcC>tcT	p.S1029S	CCDC40_uc002jxm.4_Silent_p.S812S|CCDC40_uc002jxn.4_Silent_p.S425S	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	1029					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGAGCAGCTCCCTCCTAGAGA	0.562000														84			15		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35832673	35832673	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35832673C>T	uc010edt.3	+	8	1924	c.1840C>T	c.(1840-1842)Ctg>Ttg	p.L614L	CD22_uc010edu.3_Silent_p.L526L|CD22_uc010edv.3_Silent_p.L614L|CD22_uc002nzb.4_Silent_p.L437L|CD22_uc010xst.2_Silent_p.L442L|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	614	Ig-like C2-type 6.				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)	GAGTGCAACCCTGACCTGTGA	0.617000														46			14		0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225702558	225702558	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:225702558G>A	uc001hpc.1	-	6	1411	c.958C>T	c.(958-960)Cca>Tca	p.P320S	ENAH_uc021pju.1_Missense_Mutation_p.P270S|ENAH_uc001hpd.1_Missense_Mutation_p.P320S|ENAH_uc001hpb.1_5'UTR	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	320	Pro-rich.				T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		ggccctggtgggagtggtgga	0.592000														36			13		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906452	13906452	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:13906452G>A	uc001rbt.2	-	2	988	c.809C>T	c.(808-810)cCt>cTt	p.P270L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	270					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAACTCCGCAGGCACTGTGTC	0.547000														61			14		0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062985	194062985	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:194062985G>A	uc003fts.3	-	1	537	c.447C>T	c.(445-447)tcC>tcT	p.S149S	CPN2_uc021xix.1_Silent_p.S149S	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	149					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCAGGTGGAGGGACTCCAGGG	0.627000														30			15		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49219042	49219042	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:49219042G>A	uc010zyt.2	-	12	1477	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.S405F|FAM65C_uc002xvn.1_Missense_Mutation_p.S405F	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	405										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						AGAGCTGAAGGAGTCCATCTC	0.637000														67			20		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	169995191	169995191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169995191C>T	uc002ues.3	-	74	13627	c.13414G>A	c.(13414-13416)Gaa>Aaa	p.E4472K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4472					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTCCCATTTTCAGAGGGCTTG	0.418000														68			12		0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36117063	36117063	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:36117063C>T	uc003zyv.3	+	16	2228	c.2142C>T	c.(2140-2142)ctC>ctT	p.L714L	RECK_uc003zyw.3_Silent_p.L586L|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	714	Kazal-like 2.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CAAGACAGCTCGCGTGTGACC	0.458000														64			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179575593	179575593	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179575593C>T	uc021vsy.1	-	94	24724	c.24499G>A	c.(24499-24501)Gga>Aga	p.G8167R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4828R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9094	Ig-like 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S8166I(1)		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)			GCACTTTCTCCCACCACAGCA	0.512000														63			16		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21157616	21157616	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:21157616C>T	uc001iqi.3	-	6	1058	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	221					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTAGAAGCTTCCACGGCATGT	0.343000														198			21		0	0	1	0	0
KIAA1430	57587	broad.mit.edu	37	4	186111405	186111405	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:186111405C>T	uc003ixf.4	-	1	1093	c.946G>A	c.(946-948)Gag>Aag	p.E316K	KIAA1430_uc003ixg.3_Missense_Mutation_p.E316K	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	Homo sapiens KIAA1430 (KIAA1430), mRNA.	316								p.H315L(1)		endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		ACATCAGGCTCATGTTTTTCT	0.348000														27			8		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213314	21213314	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21213314C>T	uc010bwn.1	-	11	1517	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	ZP2_uc002dii.2_Missense_Mutation_p.E440K	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	440	ZP.				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)		GCATGTATTTCGTTTTCATAG	0.393000														113			32		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74007901	74007901	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74007901G>A	uc010wss.1	-	19	2814	c.2586C>T	c.(2584-2586)gcC>gcT	p.A862A	EVPL_uc002jqi.2_Silent_p.A840A|EVPL_uc010wst.1_Silent_p.A310A	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	840	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GTCTCTTGGGGGCTGACACTG	0.622000														30			12		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50249977	50249977	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50249977C>T	uc002ppm.3	-	5	753	c.742G>A	c.(742-744)Gag>Aag	p.E248K		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	248							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		tcctgcttctcctccggctcc	0.697000														15			7		0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58115674	58115674	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58115674C>T	uc002qpk.2	+	1	280	c.60C>T	c.(58-60)gcC>gcT	p.A20A	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_5'Flank	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGGATGTGGCCATTTACTTCT	0.507000														178			17		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12313759	12313759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:12313759C>T	uc001mkg.1	+	1	335	c.44C>T	c.(43-45)tCa>tTa	p.S15L		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	15	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcttccttcatcgtcttcc	0.488000														45			15		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77885578	77885578	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:77885578G>A	uc003ugx.3	-	9	1983	c.1729C>T	c.(1729-1731)Cag>Tag	p.Q577*	MAGI2_uc003ugy.3_Nonsense_Mutation_p.Q577*|MAGI2_uc010ldx.1_Nonsense_Mutation_p.Q186*|MAGI2_uc010ldy.1_Nonsense_Mutation_p.Q186*|MAGI2_uc011kgr.1_Nonsense_Mutation_p.Q409*|MAGI2_uc011kgs.1_Nonsense_Mutation_p.Q414*	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	577						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCGTCTAGCTGACCATCAGTT	0.488000														41			16		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28233854	28233854	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:28233854G>A	uc009xky.3	-	10	1522	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	ARMC4_uc010qds.2_5'UTR|ARMC4_uc010qdt.2_Missense_Mutation_p.S167L|ARMC4_uc001itz.3_Missense_Mutation_p.S475L|ARMC4_uc010qdu.1_Missense_Mutation_p.S167L	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	475							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATCCCTCATTGAACACAACGC	0.448000														82			42		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152366	133152366	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133152366C>T	uc003ytj.3	-	10	1750	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	KCNQ3_uc003yti.3_Missense_Mutation_p.E389K|KCNQ3_uc010mdt.3_Missense_Mutation_p.E509K	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	509					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATCATGTCTTCGATGGGGAAG	0.627000														57			17		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27167664	27167664	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27167664C>T	uc002rhu.4	+	11	1739	c.1581C>T	c.(1579-1581)gaC>gaT	p.D527D	DPYSL5_uc002rhv.4_Silent_p.D527D|DPYSL5_uc021vev.1_Silent_p.D527D	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	527					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATGAGGGACCTTCACGAAT	0.622000														69			28		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167240254	167240254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:167240254C>T	uc003fev.1	-	11	1871	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	WDR49_uc003feu.1_Missense_Mutation_p.E348K|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	523										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGGCAGTTTTCAATATGCCAG	0.313000														57			17		0	0	1	0	0
FTSJD1	55783	broad.mit.edu	37	16	71317926	71317926	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71317926G>A	uc021tkr.1	-	0	1898	c.1898C>T	c.(1897-1899)tCa>tTa	p.S633L	FTSJD1_uc010cga.3_Missense_Mutation_p.S633L|FTSJD1_uc002ezy.4_Missense_Mutation_p.S633L|FTSJD1_uc002ezz.4_Missense_Mutation_p.S633L	NM_018348	NP_060818	Q8IYT2	FTSJ1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA.	633						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCCCGCAATGAATGTAGAAG	0.403000														94			9		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49688217	49688217	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49688217C>T	uc003cxe.4	+	3	1805	c.1691C>T	c.(1690-1692)cCt>cTt	p.P564L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	564					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTGGGCCAGCCTTCAGGCCCC	0.687000														208			28		0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735154	55735154	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55735154C>T	uc010rit.2	-	0	786	c.786G>A	c.(784-786)ggG>ggA	p.G262G		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAATCAGTTTCCCCATCCTTT	0.373000														44			15		0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107491536	107491536	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:107491536C>T	uc010hpr.3	+	10	1295	c.968C>T	c.(967-969)tCc>tTc	p.S323F	BBX_uc003dwk.4_Missense_Mutation_p.S323F|BBX_uc003dwl.4_Intron|BBX_uc010hps.1_Missense_Mutation_p.S344F|BBX_uc003dwm.4_Missense_Mutation_p.S323F|BBX_uc003dwo.4_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GCAAAAGAATCCGATGGTGGA	0.348000														78			14		0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29555752	29555752	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29555752C>T	uc003nmr.1	+	0	70	c.31C>T	c.(31-33)Ctc>Ttc	p.L11F	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	11					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						ACCGGGCTTCCTCCTTCTGGG	0.512000														150			58		0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81095106	81095106	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:81095106G>A	uc002fgc.4	-	3	1107	c.848C>T	c.(847-849)tCc>tTc	p.S283F	C16orf46_uc010chf.3_Missense_Mutation_p.S283F|C16orf46_uc010vno.2_Missense_Mutation_p.S10F	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	283										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GGCCGCTGGGGAAGGGGAGGA	0.577000														186			44		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10971322	10971322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:10971322C>T	uc002yip.1	-	4	403	c.35G>A	c.(34-36)gGa>gAa	p.G12E	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.G12E|TPTE_uc002yir.1_Missense_Mutation_p.G12E|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	12					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.A11V(1)|p.A11A(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)		AATGATGACTCCCGCCAGGTC	0.453000														62			10		0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776016	5776016	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5776016C>T	uc001mbu.3	+	0	94	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TTCATTTATTCTGAATGGAGT	0.413000														59			27		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57864435	57864435	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57864435A>G	uc001snx.3	+	11	2006	c.1912A>G	c.(1912-1914)Agg>Ggg	p.R638G	GLI1_uc021qzi.1_Missense_Mutation_p.R597G|GLI1_uc009zpq.3_Missense_Mutation_p.R510G	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	638					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.R637Q(2)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGTCACCCGGAGGGCCAGTGA	0.622000														46			18		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196852768	196852768	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196852768G>A	uc002utj.4	-	12	1640	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	513	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GATTTTCTGCGAGGAAGTTAT	0.348000														41			25		0	0	1	0	0
TMEM40	55287	broad.mit.edu	37	3	12780058	12780058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:12780058C>T	uc011auv.1	-	5	600	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	TMEM40_uc003bxg.1_Missense_Mutation_p.E129K|TMEM40_uc003bxh.1_Missense_Mutation_p.E99K	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	Homo sapiens transmembrane protein 40 (TMEM40), mRNA.	129						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TCACCTGATTCCCCAGAGGGT	0.547000														102			36		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123908902	123908902	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123908902C>T	uc001pzq.1	-	0	807	c.807G>A	c.(805-807)ggG>ggA	p.G269G		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CGGCCACAACCCCATGCAAGG	0.512000														64			29		0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230224	56230224	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56230224G>A	uc010rjj.2	-	0	654	c.654C>T	c.(652-654)ctC>ctT	p.L218L	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CTACTACAATGAGAGTGTAGG	0.488000														24			6		0	0	1	0	0
TTC24	164118	broad.mit.edu	37	1	156554962	156554962	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156554962G>A	uc021pbf.1	+	7	1431	c.1395G>A	c.(1393-1395)caG>caA	p.Q465Q		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	Homo sapiens tetratricopeptide repeat domain 24 (TTC24), mRNA.	465							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGGCCACCAGAAGAAAAAAG	0.577000														29			20		0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101606801	101606801	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:101606801G>A	uc001kqf.2	+	29	4369	c.4230G>A	c.(4228-4230)ttG>ttA	p.L1410L		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	1410	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGAAGGCCTTGGAGCTGGCTC	0.517000														183			63		0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64882811	64882811	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64882811G>A	uc001ocv.3	+	5	1578	c.981G>A	c.(979-981)ggG>ggA	p.G327G	TM7SF2_uc001oct.3_Silent_p.G306G|TM7SF2_uc010rny.2_Silent_p.G190G|TM7SF2_uc001ocu.3_Intron|BC104003_uc009yqb.1_5'Flank	NM_003273	NP_003264	O76062	ERG24_HUMAN	Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA.	306					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTTCCGTGGGGCGAATTCCC	0.572000														115			46		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853810	122853810	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:122853810C>T	uc003ieg.2	-	1	677	c.603G>A	c.(601-603)gcG>gcA	p.A201A	TRPC3_uc010inr.2_Silent_p.A128A|TRPC3_uc003ief.2_Silent_p.A128A|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	116					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTTGCTGGCCGCGAAGCCAG	0.637000														35			7		0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39245969	39245969	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:39245969C>T	uc003gtv.3	+	21	2677	c.2523C>T	c.(2521-2523)gtC>gtT	p.V841V	WDR19_uc011byi.2_Silent_p.V681V|WDR19_uc003gtw.1_Silent_p.V438V	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	841					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CCAGCAGGGTCCTTAAAAGAG	0.428000														71			30		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50552915	50552915	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50552915C>T	uc003bjj.3	+	6	1073	c.990C>T	c.(988-990)ccC>ccT	p.P330P	MOV10L1_uc003bjk.4_Silent_p.P330P|MOV10L1_uc011arp.2_Silent_p.P310P|MOV10L1_uc011arq.1_Silent_p.P91P|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	330					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGATGTGCCCCGTGGTATCTT	0.383000														78			20		0	0	1	0	0
ACTR1A	10121	broad.mit.edu	37	10	104241922	104241922	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104241922G>A	uc001kvv.3	-	7	869	c.761C>T	c.(760-762)tCc>tTc	p.S254F	ACTR1A_uc010qqn.2_Missense_Mutation_p.S180F|ACTR1A_uc010qqo.2_Missense_Mutation_p.S207F	NM_005736	NP_005727	P61163	ACTZ_HUMAN	Homo sapiens ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) (ACTR1A), mRNA.	254					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCGGAATCGGGAAGGACCAAT	0.582000														114			35		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37000603	37000603	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:37000603C>T	uc003jkl.4	+	11	3932	c.3433C>T	c.(3433-3435)Cgt>Tgt	p.R1145C	NIPBL_uc003jkk.4_Missense_Mutation_p.R1145C	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1145					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGTGGTGGTCGTTATCGAAA	0.463000														110			18		0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013235	73013235	+	Silent	SNP	C	T	T	rs145038184	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:73013235C>T	uc003hgg.2	+	3	1373	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	NPFFR2_uc010iig.2_Silent_p.F207F|NPFFR2_uc003hgi.2_Silent_p.F326F|NPFFR2_uc003hgh.2_Silent_p.F323F	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	425					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GGCTGGCATTCGGCAACAGCA	0.463000														100			43		0	0	1	0	0
LOC441666	441666	broad.mit.edu	37	10	42831775	42831775	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:42831775G>A	uc010qey.2	-	2		c.2200C>T								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		AAGGCTTGAGGAACAGTAAAA	0.358000														17			6		0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754787	167754787	+	Missense_Mutation	SNP	G	A	A	rs140708449		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:167754787G>A	uc003qvs.1	+	2	1487	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	467					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AATGTACAACGAGGATGACTC	0.498000														50			33		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38186485	38186485	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:38186485C>T	uc009vvi.3	-	11	2264	c.2178G>A	c.(2176-2178)atG>atA	p.M726I	EPHA10_uc001cbt.3_5'Flank|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	726	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCCATGGCTCATGTACTCGG	0.572000														49			30		0	0	1	0	0
SDC4	6385	broad.mit.edu	37	20	43956011	43956011	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43956011G>A	uc002xnu.3	-	4	530	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L	SDC4_uc010zws.2_Silent_p.L92L	NM_002999	NP_002990	P31431	SDC4_HUMAN	Homo sapiens syndecan 4 (SDC4), mRNA.	164						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				AGTAGGATCAGGAAGACGGCA	0.532000			T	ROS1	NSCLC									58			14		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114277055	114277055	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:114277055C>T	uc003ibe.4	+	37	7381	c.7281C>T	c.(7279-7281)gaC>gaT	p.D2427D	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.D2442D	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2394					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGCTGATGACTCATTAGCAG	0.502000														48			24		0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73721613	73721613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:73721613G>A	uc010ttx.2	+	12	1677	c.1514G>A	c.(1513-1515)cGg>cAg	p.R505Q	PAPLN_uc001xnw.4_Missense_Mutation_p.R478Q|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.R505Q	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	505	TSP type-1 5.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	p.R478Q(1)|p.R505Q(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TCGGGCACTCGGAGGCGACAG	0.657000														46			11		0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3834911	3834911	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3834911C>T	uc002lyw.2	-	1	136	c.124G>A	c.(124-126)Gac>Aac	p.D42N	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	42						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		ACGGCAGGGTCCATCCCAGGA	0.667000														9			6		0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38557331	38557331	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:38557331G>A	uc002huq.3	-	20	2594	c.2435C>T	c.(2434-2436)tCt>tTt	p.S812F	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	812					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TCGAGCCAAAGAGCTAAAGAA	0.308000														18			22		0	0	1	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74695422	74695422	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:74695422G>A	uc001jtf.1	-	3	608	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	PLA2G12B_uc009xqt.1_Nonsense_Mutation_p.Q91*|PLA2G12B_uc010qjz.1_Nonsense_Mutation_p.Q180*	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	Homo sapiens phospholipase A2, group XIIB (PLA2G12B), mRNA.	181					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					GCTGCCCGCTGACTATTCATA	0.507000														70			34		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40367775	40367775	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40367775G>A	uc002omp.4	-	28	13193	c.13185C>T	c.(13183-13185)ttC>ttT	p.F4395F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4395	TIL 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACTTAACACGAAACCCGCGT	0.657000														24			25		0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711559	20711559	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20711559C>T	uc010tld.2	+	0	609	c.609C>T	c.(607-609)ccC>ccT	p.P203P		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CCCCAGCTCCCATAACTGAAT	0.423000														185			80		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28647982	28647982	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28647982C>T	uc002kwl.4	-	15	3159	c.2705G>A	c.(2704-2706)tGa>tAa	p.*902*	DSC2_uc002kwk.4_3'UTR	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	0					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AGAACACACTCATCTCTTCAT	0.373000														47			9		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25264389	25264389	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:25264389G>A	uc003abg.2	+	10	1198	c.1041G>A	c.(1039-1041)caG>caA	p.Q347Q	SGSM1_uc010guu.1_Silent_p.Q347Q|SGSM1_uc003abh.2_Silent_p.Q347Q|SGSM1_uc003abj.2_Silent_p.Q347Q|SGSM1_uc003abi.1_Silent_p.Q322Q	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	347	Required for interaction with RAP family members.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACGGGATCCAGAGGCCGCCCT	0.642000														53			24		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126132589	126132589	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:126132589C>T	uc004bnx.1	+	6	1349	c.1257C>T	c.(1255-1257)gtC>gtT	p.V419V	CRB2_uc004bnw.1_Silent_p.V419V	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	419	EGF-like 9.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AGTCTGGGGTCCACAGTTACG	0.622000														41			8		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699764	48699765	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48699764_48699765GG>AA	uc003cuf.1	-	2	513_514	c.513_514CC>TT	c.(511-516)ccccct>ccTTct	p.P172S	CELSR3_uc003cul.3_Missense_Mutation_p.P102S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	102					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCTGCTCAGGGGGCCCTCGAC	0.658000														160			65		0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32151349	32151349	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32151349G>A	uc001btk.1	-	28	2272	c.1907C>T	c.(1906-1908)cCa>cTa	p.P636L	COL16A1_uc001btj.1_Missense_Mutation_p.P465L|COL16A1_uc001btl.4_Missense_Mutation_p.P636L	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	636	Nonhelical region 7 (NC7).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGACAGGGCTGGGCACGGCTC	0.637000														201			50		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296383	29296383	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29296383C>T	uc002rmt.2	-	0	745	c.745G>A	c.(745-747)Gag>Aag	p.E249K		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	249					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GCCAGATCCTCCCTGACTTCC	0.552000														65			27		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210595030	210595031	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:210595030_210595031CC>AT	uc002vde.1	+	14	5641_5642	c.5393_5394CC>AT	c.(5392-5394)tcc>tAT	p.S1798Y	MAP2_uc002vdd.1_Missense_Mutation_p.S530Y|MAP2_uc002vdf.1_Missense_Mutation_p.S473Y|MAP2_uc002vdg.1_Missense_Mutation_p.S442Y|MAP2_uc002vdh.1_Missense_Mutation_p.S499Y|MAP2_uc002vdi.1_Missense_Mutation_p.S1794Y	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1798					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGCAATGTCTCCTCGTCTGGAA	0.545000														49			11		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207751310	207751310	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207751310C>T	uc001hfy.3	+	20	3488	c.3348C>T	c.(3346-3348)acC>acT	p.T1116T	CR1_uc009xcl.1_Silent_p.T666T|CR1_uc001hfx.3_Silent_p.T1566T|CR1_uc021pij.1_Silent_p.T1116T	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1116	Sushi 17.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TATACTGCACCAGCAATGACG	0.493000														119			53		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41694356	41694356	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:41694356C>T	uc003gvz.4	+	30	4750	c.4333C>T	c.(4333-4335)Cga>Tga	p.R1445*	LIMCH1_uc003gwe.4_Nonsense_Mutation_p.R958*|LIMCH1_uc003gvu.4_Nonsense_Mutation_p.R1061*|LIMCH1_uc003gvv.4_Nonsense_Mutation_p.R1035*|LIMCH1_uc003gvw.4_Nonsense_Mutation_p.R1034*|LIMCH1_uc003gvx.4_Nonsense_Mutation_p.R1047*|LIMCH1_uc003gvy.4_Nonsense_Mutation_p.R863*|LIMCH1_uc003gwa.4_Nonsense_Mutation_p.R875*|LIMCH1_uc011byu.2_Nonsense_Mutation_p.R894*|LIMCH1_uc003gwc.4_Nonsense_Mutation_p.R880*|LIMCH1_uc003gwd.4_Nonsense_Mutation_p.R868*|LIMCH1_uc011byv.2_Nonsense_Mutation_p.R811*|LIMCH1_uc011byw.2_Nonsense_Mutation_p.R334*|LIMCH1_uc010ifv.3_5'Flank	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	1061					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TGTTAGGATTCGAAATGGTCT	0.428000														68			13		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50752301	50752301	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50752301C>T	uc010enu.1	+	12	1434	c.1387C>T	c.(1387-1389)Ctg>Ttg	p.L463L	MYH14_uc002prq.1_Silent_p.L463L|MYH14_uc002prr.1_Silent_p.L455L	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	455	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTTCCGCTGGCTGGTTCTGCG	0.667000														18			6		0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151916	158151916	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158151916C>T	uc001frr.3	+	3	922	c.423C>T	c.(421-423)atC>atT	p.I141I	CD1D_uc009wsr.1_Silent_p.I141I|CD1D_uc009wss.3_Silent_p.I141I|CD1D_uc009wst.1_Silent_p.I37I	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	141					T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GAAAAGATATCCTGAGTTTCC	0.517000														185			109		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155533	22155533	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22155533T>C	uc021urr.1	-	3	2452	c.2303A>G	c.(2302-2304)aAg>aGg	p.K768R	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)				ATGAATTTTCTTATGATAACT	0.353000														59			16		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77476765	77476765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77476765G>A	uc011cbx.2	+	1	1125	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	58	PDZ.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAAGCAGGTCGAAGAAGGGGG	0.602000														44			14		0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89304376	89304376	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:89304376C>T	uc011cdi.2	+	1	386	c.203C>T	c.(202-204)cCa>cTa	p.P68L	HERC6_uc003hrp.1_Non-coding_Transcript|HERC6_uc011cdj.2_Missense_Mutation_p.P68L|HERC6_uc011cdk.2_Non-coding_Transcript|HERC6_uc011cdl.2_Non-coding_Transcript	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	Homo sapiens hect domain and RLD 6 (HERC6), transcript variant 1, mRNA.	68					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CCCAAAGAACCAATTCAGGCA	0.453000														13			3		0	0	1	0	0
DSCR4	10281	broad.mit.edu	37	21	39492501	39492501	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:39492501C>T	uc002ywp.3	-	2	234	c.129_splice	c.e2-1	p.R43_splice	DSCR8_uc002ywt.4_5'Flank|DSCR8_uc010gnp.3_5'Flank|DSCR8_uc010gnq.3_5'Flank|DSCR8_uc010gnr.3_5'Flank|DSCR8_uc010gns.3_5'Flank	NM_005867	NP_005858	P56555	DSCR4_HUMAN	Homo sapiens Down syndrome critical region gene 4 (DSCR4), mRNA.	43										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						attttttcttctctaggaaaa	0.413000														44			24		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158259858	158259858	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158259858C>T	uc001fru.3	+	0	296	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	2					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.M1L(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AAATGACATGCTGTTTCTGCA	0.438000														79			27		0	0	1	0	0
ATP8B5P	158381	broad.mit.edu	37	9	35449850	35449850	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35449850G>A	uc010mko.3	+	10		c.1260G>A			ATP8B5P_uc010mkp.3_Non-coding_Transcript|ATP8B5P_uc010mkn.2_Non-coding_Transcript|ATP8B5P_uc003zwu.2_Intron					Homo sapiens ATPase, class I, type 8B, member 5, pseudogene (ATP8B5P), transcript variant 2, non-coding RNA.																		ATGCTATAAAGAACATCTTCA	0.423000														34			10		0	0	1	0	0
SLC24A6	80024	broad.mit.edu	37	12	113754419	113754419	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113754419G>A	uc001tvc.3	-	9	1115	c.905C>T	c.(904-906)gCt>gTt	p.A302V	SLC24A6_uc001tuz.3_Missense_Mutation_p.A7V|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Missense_Mutation_p.A40V	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	302					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CAGGATCTGAGCCGTGGTCTC	0.577000														273			32		0	0	1	0	0
RASSF4	83937	broad.mit.edu	37	10	45484823	45484823	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:45484823G>A	uc001jbp.3	+	6	2275	c.726_splice	c.e6+1	p.R242_splice	RASSF4_uc001jbo.3_Splice_Site_p.R211_splice|RASSF4_uc009xmn.3_Splice_Site_p.R141_splice|RASSF4_uc001jbq.3_Splice_Site_p.R108_splice|RASSF4_uc001jbt.3_Splice_Site_p.R168_splice			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	211	Ras-associating.				cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACAAATTTAGGGTAAGCCTGG	0.577000														21			10		0	0	1	0	0
SF3A3	10946	broad.mit.edu	37	1	38435103	38435103	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:38435103G>A	uc001cci.3	-	13	1328	c.1204C>T	c.(1204-1206)Cta>Tta	p.L402L	SF3A3_uc010oik.2_Silent_p.L349L	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	Homo sapiens splicing factor 3a, subunit 3, 60kDa (SF3A3), mRNA.	402					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)				TTGATATTTAGGCCATGAAGC	0.398000														96			11		0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343086	130343086	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:130343086C>T	uc010scd.2	+	7	2223	c.2223C>T	c.(2221-2223)ttC>ttT	p.F741F		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	741	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		ACGGGCATTTCGTGGTGTCGG	0.637000														56			31		0	0	1	0	0
FCN3	8547	broad.mit.edu	37	1	27700886	27700886	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27700886G>A	uc001boa.3	-	1	154	c.148C>T	c.(148-150)Cca>Tca	p.P50S	FCN3_uc001bob.3_Missense_Mutation_p.P50S	NM_003665	NP_003656	O75636	FCN3_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen) (FCN3), transcript variant 1, mRNA.	50	Collagen-like.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGACTTCCTGGAGCTCCGGGA	0.617000														52			12		0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4855936	4855936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:4855936G>A	uc003snj.1	-	7	2062	c.1889C>T	c.(1888-1890)cCc>cTc	p.P630L	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_Missense_Mutation_p.P135L|RADIL_uc011jwc.1_Missense_Mutation_p.P390L|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	630	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGCCACCTCGGGGTGCACCTG	0.667000														14			7		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782829	54782829	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54782829G>A	uc002qfb.3	-	5	1059	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.R265C|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.R265C|LILRB2_uc010yet.2_Missense_Mutation_p.R149C|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	265	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGAGCTGGCGAAGGTCACGT	0.642000														85			16		0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156276982	156276982	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:156276982C>T	uc003ios.3	-	8	1440	c.1176G>A	c.(1174-1176)tcG>tcA	p.S392S	MAP9_uc011cin.2_Silent_p.S367S|MAP9_uc010iqa.1_Intron|MAP9_uc003iot.1_Silent_p.S391S	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	392					cell division|mitosis	cytoplasm|microtubule|spindle		p.S392*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AGGTAGTTGTCGATGGAGTTC	0.348000														50			8		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121228689	121228689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:121228689G>A	uc003yox.3	+	13	1962	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	COL14A1_uc003yoy.3_Missense_Mutation_p.R244Q|COL14A1_uc010mde.1_Missense_Mutation_p.R244Q	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	566	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATGGTTATCGAATTGTATAT	0.403000														91			37		0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16385458	16385458	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:16385458C>T	uc002wpg.2	-	17	1943	c.1784_splice	c.e17+1	p.G595_splice	KIF16B_uc010gch.2_Splice_Site_p.G595_splice|KIF16B_uc010gci.2_Splice_Site_p.G595_splice|KIF16B_uc010gcj.2_Splice_Site_p.G595_splice	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	595					Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GTTCACTCACCCGGGGTTATA	0.478000														29			10		0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69719813	69719813	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:69719813C>T	uc004dyi.2	+	15	2406	c.2059C>T	c.(2059-2061)Cag>Tag	p.Q687*	DLG3_uc004dyj.2_Nonsense_Mutation_p.Q382*|DLG3_uc011mpn.2_Nonsense_Mutation_p.Q236*	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	687	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GAAAGATATTCAGGACAACAA	0.488000														14			9		0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55183954	55183954	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:55183954C>T	uc010wnl.2	+	2	1411	c.1129C>T	c.(1129-1131)Cag>Tag	p.Q377*	AKAP1_uc002iux.3_Nonsense_Mutation_p.Q377*|AKAP1_uc021uak.1_Nonsense_Mutation_p.Q377*|AKAP1_uc010dcm.3_Nonsense_Mutation_p.Q377*|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	377					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TCGTGTGTGTCAGGCCAGTCA	0.577000														94			16		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846092	123846092	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:123846092G>A	uc001lfv.3	+	3	4437	c.4077G>A	c.(4075-4077)ggG>ggA	p.G1359G	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.G1359G|TACC2_uc010qtv.2_Silent_p.G1359G	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1359						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)				AGGCCAGTGGGGAGGGCATGG	0.622000														35			18		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3632689	3632689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3632689G>A	uc002cvp.2	-	14	5786	c.5159C>T	c.(5158-5160)tCc>tTc	p.S1720F		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1720	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.|Poly-Ser.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTCACAGGAGGAAGAACTGAA	0.592000								Direct reversal of damage						25			4		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702044	181702044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181702044C>T	uc009wxt.3	+	19	3017	c.2822C>T	c.(2821-2823)tCt>tTt	p.S941F	CACNA1E_uc001gow.3_Missense_Mutation_p.S941F|CACNA1E_uc009wxs.3_Missense_Mutation_p.S922F|CACNA1E_uc001gox.1_Missense_Mutation_p.S167F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	941					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						CGGAGCAGGTCTGCCAGCCAG	0.632000														91			38		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248437012	248437012	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248437012G>A	uc010pzi.2	-	0	105	c.105C>T	c.(103-105)acC>acT	p.T35T		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			CAAACAGGGAGGTCAAAACGA	0.488000														77			32		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671718	125671718	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:125671718G>A	uc010flu.3	+	23	4141	c.3777G>A	c.(3775-3777)atG>atA	p.M1259I	CNTNAP5_uc002tno.3_Missense_Mutation_p.M1258I	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1258					cell adhesion|signal transduction	integral to membrane	receptor binding	p.M1258I(2)|p.T1259T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCGGCATCATGACCCGGTTCC	0.453000														123			60		0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65417935	65417935	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65417935G>A	uc001ofb.2	+	14	3134	c.2967G>A	c.(2965-2967)caG>caA	p.Q989Q	SIPA1_uc010rom.1_Silent_p.Q887Q|SIPA1_uc001ofd.2_Silent_p.Q989Q	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	989					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GGAAGCTGCAGGAGGACCTGC	0.632000														53			15		0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16086016	16086016	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:16086016C>T	uc002rci.3	+	2	1492	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	MYCN_uc010yjr.2_Missense_Mutation_p.R398W	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	398	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CAACGACCTTCGGTCCAGCTT	0.567000			A		neuroblastoma									114			48		0	0	1	0	0
CDA	978	broad.mit.edu	37	1	20915648	20915649	+	Missense_Mutation	DNP	CC	TT	TT	rs140821931		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:20915648_20915649CC>TT	uc001bdk.3	+	0	205_206	c.26_27CC>TT	c.(25-27)acc>aTT	p.T9I	CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	NM_001785	NP_001776	P32320	CDD_HUMAN	Homo sapiens cytidine deaminase (CDA), mRNA.	9					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	CCTGCCTGCACCCTGAAGCCTG	0.658000														74			13		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38983185	38983185	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38983185C>T	uc002oit.3	+	37	6313	c.6183C>T	c.(6181-6183)agC>agT	p.S2061S	RYR1_uc002oiu.3_Silent_p.S2061S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2061	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTGGGCAGCCGCCTCATGA	0.542000														81			9		0	0	1	0	0
CABP2	51475	broad.mit.edu	37	11	67288529	67288529	+	Missense_Mutation	SNP	C	T	T	rs140767804	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67288529C>T	uc001ome.1	-	3	452	c.364G>A	c.(364-366)Gag>Aag	p.E122K	CABP2_uc001omc.1_Missense_Mutation_p.E116K			Q9NPB3	CABP2_HUMAN	Homo sapiens calcium binding protein 2 (CABP2), mRNA.	116	EF-hand 2.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.I122V(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						AGCTCCATCTCGGTGGGCATG	0.627000														89			44		0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34051053	34051053	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:34051053G>A	uc002yqh.2	-	11	1529	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F	SYNJ1_uc011ads.1_Missense_Mutation_p.S474F|SYNJ1_uc002yqf.2_Missense_Mutation_p.S471F|SYNJ1_uc002yqg.2_Missense_Mutation_p.S474F|SYNJ1_uc002yqi.2_Missense_Mutation_p.S510F	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	471	Catalytic (Potential).						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTCTTGCTTGGAGCTGTCAAA	0.408000														94			21		0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17250265	17250265	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:17250265G>A	uc011aby.1	+	24	3377	c.3160G>A	c.(3160-3162)Gat>Aat	p.D1054N	USP25_uc002yjz.1_Missense_Mutation_p.D1016N|USP25_uc010gla.1_Missense_Mutation_p.D379N|USP25_uc002yjy.1_Missense_Mutation_p.D984N	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	984					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AGCTGTAGAAGATATGAGAAA	0.363000														59			13		0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59406585	59406585	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59406585G>A	uc001noe.4	-	17	2370	c.2227C>T	c.(2227-2229)Cta>Tta	p.L743L		NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	743	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						AGGGACACTAGGTTTGTAGGT	0.488000														48			13		0	0	1	0	0
CSN2	1447	broad.mit.edu	37	4	70823435	70823435	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:70823435G>A	uc003hes.4	-	4	245	c.232C>T	c.(232-234)Cca>Tca	p.P78S	CSN2_uc003het.4_Missense_Mutation_p.P77S	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	78					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						ATGTTTTGTGGAAGAAAACCA	0.468000														111			29		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060446	54060446	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:54060446C>T	uc001cvr.1	-	2	697	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	44					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GAGCTGGGTTCGCTGCCCAGA	0.726000														16			3		0	0	1	0	0
CT47A6	728062	broad.mit.edu	37	X	120094389	120094389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:120094389C>T	uc004eth.3	-	0	949	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	CT47A6_uc004eti.3_Intron	NM_001080141	NP_775842	Q5JQC4	CT47A_HUMAN	Homo sapiens cancer/testis antigen family 47, member A6 (CT47A6), mRNA.	232										large_intestine(1)|lung(4)	5						GTGGCTGGTTCCTCTGCGTCT	0.682000														2			249		0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71103627	71103627	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:71103627C>T	uc001jpl.4	+	1	209	c.108C>T	c.(106-108)ctC>ctT	p.L36L	HK1_uc009xqc.1_Missense_Mutation_p.S100L|HK1_uc001jpg.4_Silent_p.L24L|HK1_uc001jph.4_Silent_p.L40L|HK1_uc001jpi.4_Silent_p.L40L|HK1_uc001jpj.4_Silent_p.L71L|HK1_uc001jpk.4_Silent_p.L35L|HK1_uc009xqd.3_5'UTR	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	36	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.S36S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						ATGAAACTCTCATAGATATCA	0.502000														141			58		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8500768	8500768	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:8500768C>T	uc003zkk.3	-	23	2857	c.2114G>A	c.(2113-2115)cGa>cAa	p.R705Q	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	705	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCATTGGTTCGAATCAACAC	0.473000										TSP Lung(15;0.13)				64			41		0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12826135	12826135	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12826135G>A	uc002mup.3	-	5	1308	c.846C>T	c.(844-846)tcC>tcT	p.S282S	TNPO2_uc002muq.3_Silent_p.S190S|TNPO2_uc002muo.3_Silent_p.S190S|TNPO2_uc002mur.3_Silent_p.S190S	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	190					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGATGGCGTGGGACCTGGCGG	0.662000														25			12		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133795854	133795854	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:133795854G>A	uc001qgx.4	-	13	2045	c.1814C>T	c.(1813-1815)cCt>cTt	p.P605L	IGSF9B_uc001qgy.1_Missense_Mutation_p.P447L	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	605						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGTTGTAATAGGGAATGCTGC	0.647000														5			3		0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389325	1389325	+	Silent	SNP	C	T	T	rs71299249		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:1389325C>T	uc003gdf.2	+	0	3986	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	342					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	p.P341P(1)		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)			GAGTGCCCGCCTGCTCACACG	0.667000														345			31		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1415401	1415401	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:1415401C>T	uc003boz.3	+	14	2167	c.1900C>T	c.(1900-1902)Cag>Tag	p.Q634*	CNTN6_uc011asj.2_Nonsense_Mutation_p.Q562*|CNTN6_uc003bpa.3_Nonsense_Mutation_p.Q634*	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	634	Fibronectin type-III 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)		ATTTACTATTCAGACTCGGAC	0.398000														86			39		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480413	140480413	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140480413C>T	uc003lio.3	+	0	180	c.180C>T	c.(178-180)gcC>gcT	p.A60A	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	60	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAACTGGCCGCGAGGGGGG	0.507000														79			35		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113694393	113694393	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113694393C>T	uc001poh.3	-	11	1250	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q	USP28_uc001pog.3_Missense_Mutation_p.R114Q|USP28_uc010rwy.2_Missense_Mutation_p.R281Q|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.R406Q	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	406					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCTCTTATTTCGAATAAGCTC	0.318000														67			17		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370850	240370850	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240370850C>T	uc010pye.2	+	5	2975	c.2750C>T	c.(2749-2751)cCt>cTt	p.P917L	FMN2_uc010pyd.2_Missense_Mutation_p.P913L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	913	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCCTCCCCCTCCTCTTCCC	0.662000														85			42		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52602104	52602104	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:52602104C>T	uc002lfs.3	-	6	719	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	CCDC68_uc002lft.3_Missense_Mutation_p.E183K	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	183										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		CTGTGTTTTTCTTCAAGTTTT	0.358000														46			25		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33648129	33648129	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33648129C>T	uc021ywr.1	+	31	4472	c.4248C>T	c.(4246-4248)ttC>ttT	p.F1416F		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1416					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ATGTGAACTTCGTGAACCACT	0.602000														38			14		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57189311	57189311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57189311C>T	uc001cym.4	-	16	2330	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	642										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTGTTCTTTTCTAAGTTTTGC	0.313000														38			14		0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140109069	140109069	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140109069C>T	uc004clx.3	+	6	881	c.770C>T	c.(769-771)gCc>gTc	p.A257V	NDOR1_uc004clw.3_Missense_Mutation_p.A257V|NDOR1_uc011mes.2_Missense_Mutation_p.A257V|NDOR1_uc004cly.3_Missense_Mutation_p.A223V	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	257	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AACTCGGCTGCCCATGTCCAG	0.662000														39			11		0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156277015	156277015	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:156277015C>T	uc003ios.3	-	8	1407	c.1143G>A	c.(1141-1143)ttG>ttA	p.L381L	MAP9_uc011cin.2_Silent_p.L356L|MAP9_uc010iqa.1_Intron|MAP9_uc003iot.1_Silent_p.L380L	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	381					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TAGATTTCTTCAAAAACTCAG	0.343000														30			14		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90535853	90535853	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90535853C>T	uc010mqi.3	+	3	1060	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L	FAM75C1_uc004apq.4_Missense_Mutation_p.S327L	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CCCTTTATTTCATCCACACCC	0.567000														251			68		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160826660	160826660	+	Splice_Site	SNP	G	A	A	rs113304621	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:160826660G>A	uc002ube.2	-	18	2872	c.2660_splice	c.e18+1	p.R887_splice	PLA2R1_uc010zcp.2_Splice_Site_p.R887_splice|PLA2R1_uc002ubf.3_Splice_Site_p.R887_splice	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	887	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.R887C(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGTTCATACCGAAATTCATCA	0.318000														66			27		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31645925	31645925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:31645925G>A	uc004dda.1	-	54	8326	c.8082C>T	c.(8080-8082)ttC>ttT	p.F2694F	DMD_uc004dcr.1_Silent_p.F234F|DMD_uc004dcs.1_Silent_p.F234F|DMD_uc004dct.1_Silent_p.F234F|DMD_uc004dcu.1_Silent_p.F234F|DMD_uc004dcv.1_Silent_p.F234F|DMD_uc004dcw.2_Silent_p.F1350F|DMD_uc004dcx.2_Silent_p.F1353F|DMD_uc004dcz.2_Silent_p.F2571F|DMD_uc004dcy.1_Silent_p.F2690F|DMD_uc004ddb.1_Silent_p.F2686F	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2694					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)				GGTCCAGGGGGAACTGTTGCA	0.453000														11			10		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117307098	117307098	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:117307098C>T	uc003vjd.3	+	26	4511	c.4379C>T	c.(4378-4380)tCt>tTt	p.S1460F	CFTR_uc011knq.2_Missense_Mutation_p.S866F	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1460					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAGTGCAAGTCTAAGCCCCAG	0.512000									Cystic Fibrosis					49			13		0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54343015	54343015	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:54343015T>C	uc003hag.4	-	8	2053	c.1797A>G	c.(1795-1797)gaA>gaG	p.E599E	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Silent_p.E503E|LNX1_uc003hah.4_Non-coding_Transcript	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	599						cytoplasm	zinc ion binding			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)			TGCTGCAGTCTTCCTGGGGCT	0.537000														130			12		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76433779	76433779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76433779C>T	uc010dhp.2	-	73	12102	c.11977G>A	c.(11977-11979)Gag>Aag	p.E3993K	DNAH17_uc002jvq.3_Missense_Mutation_p.E278K|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.E3988Q(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTGGGGGGCTCGTTGGTGATC	0.657000														29			17		0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10934538	10934538	+	Missense_Mutation	SNP	C	T	T	rs121909095		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10934538C>T	uc002mpt.2	+	16	2046	c.1856C>T	c.(1855-1857)tCg>tTg	p.S619L	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Missense_Mutation_p.S619L|DNM2_uc010dxl.2_Missense_Mutation_p.S619L|DNM2_uc002mpu.2_Missense_Mutation_p.S615L|DNM2_uc002mpv.2_Missense_Mutation_p.S615L|DNM2_uc002mpw.3_Missense_Mutation_p.S348L|DNM2_uc002mpx.1_5'UTR	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	619	PH.		S -> L (in ADCNM; severe).|S -> W (in ADCNM; severe).		G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TGGAAGGCCTCGTTCCTCCGA	0.677000			"""F, N, Splice, Mis, O"""		ETP ALL									60			23		0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100179450	100179450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100179450G>A	uc003uvj.3	-	3	601	c.548C>T	c.(547-549)tCc>tTc	p.S183F	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	183					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCCCGCAGGGAAGAGAGGCC	0.587000														66			18		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124399574	124399574	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124399574G>A	uc001lgk.1	+	51	6680	c.6574G>A	c.(6574-6576)Gac>Aac	p.D2192N	DMBT1_uc001lgl.1_Missense_Mutation_p.D2182N|DMBT1_uc001lgm.1_Missense_Mutation_p.D1564N|DMBT1_uc021qaf.1_Missense_Mutation_p.D2192N|DMBT1_uc021qag.1_Missense_Mutation_p.D2182N|DMBT1_uc021qah.1_Missense_Mutation_p.D1564N|DMBT1_uc009xzz.1_Missense_Mutation_p.D2191N|DMBT1_uc010qtx.1_Missense_Mutation_p.D912N|DMBT1_uc009yab.1_Missense_Mutation_p.D895N|DMBT1_uc009yac.1_Missense_Mutation_p.D486N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2192	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGACACCATCGACTATTCCAA	0.517000														40			19		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2800046	2800046	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2800046G>A	uc022aqr.1	-	68	10873	c.10483C>T	c.(10483-10485)Cct>Tct	p.P3495S	CSMD1_uc011kwj.2_Missense_Mutation_p.P2810S|CSMD1_uc010lrg.3_Missense_Mutation_p.P1387S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3496						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCAAAGAAAGGAACCAGAATG	0.418000														14			5		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41525904	41525904	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:41525904C>T	uc003xok.3	-	38	5359	c.5275G>A	c.(5275-5277)Gag>Aag	p.E1759K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.E913K|ANK1_uc003xoi.3_Missense_Mutation_p.E1759K|ANK1_uc003xoj.3_Missense_Mutation_p.E1759K|ANK1_uc003xol.3_Missense_Mutation_p.E1597K|ANK1_uc003xom.3_Missense_Mutation_p.E1800K	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1759	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CACGTGTGCTCACTTACAGAC	0.592000														57			25		0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34038258	34038258	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:34038258G>A	uc002yqh.2	-	16	2257	c.2257C>T	c.(2257-2259)Cct>Tct	p.P753S	SYNJ1_uc011ads.1_Missense_Mutation_p.P709S|SYNJ1_uc002yqf.2_Missense_Mutation_p.P714S|SYNJ1_uc002yqg.2_Missense_Mutation_p.P709S|SYNJ1_uc002yqi.2_Missense_Mutation_p.P753S	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	714	Catalytic (Potential).						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTTACCATAGGAAAACTCAAT	0.348000														44			14		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19745391	19745391	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19745391G>A	uc002nnd.3	-	17	2126	c.2009C>T	c.(2008-2010)tCg>tTg	p.S670L	GMIP_uc010xrb.2_Missense_Mutation_p.S644L|GMIP_uc010xrc.2_Missense_Mutation_p.S641L	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	670	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGTCTTCAGCGAGCGGATAAC	0.602000														138			78		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26462936	26462936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:26462936G>A	uc001isn.2	+	29	4103	c.3743G>A	c.(3742-3744)aGg>aAg	p.R1248K	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1248					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACAGAGGAGAGGAATTGTGAA	0.438000														70			17		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23885428	23885428	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23885428C>T	uc001wjx.3	-	33	4844	c.4738G>A	c.(4738-4740)Gac>Aac	p.D1580N		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1580					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATCTCCTCGTCCTTCTCTGCC	0.642000														183			70		0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79108233	79108233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:79108233G>A	uc010dia.3	-	1	204	c.124C>T	c.(124-126)Ctc>Ttc	p.L42F	AATK_uc021ueu.1_5'Flank|MIR1250_uc021uex.1_5'Flank	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	42						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			ACGGCGAAGAGCCCGGAGAAA	0.662000														25			12		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94487106	94487106	+	Missense_Mutation	SNP	G	A	A	rs56099091	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:94487106G>A	uc004arj.2	-	8	1869	c.1670C>T	c.(1669-1671)tCg>tTg	p.S557L	ROR2_uc004ari.1_Missense_Mutation_p.S417L	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	557	Protein kinase.		S -> L (in dbSNP:rs56099091).		negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity	p.S557L(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTCGCCGTGCGAACAGTAGCT	0.652000														47			9		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766837	77766837	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:77766837C>T	uc003yau.2	+	9	8067	c.7680C>T	c.(7678-7680)ccC>ccT	p.P2560P	ZFHX4_uc003yaw.1_Silent_p.P2515P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2515						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)			CTCAAATGCCCCCTCAGGCCA	0.498000										HNSCC(33;0.089)				63			17		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72344257	72344257	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:72344257C>T	uc002llw.2	+	0	1335	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	ZNF407_uc010xfc.2_Missense_Mutation_p.R428C|ZNF407_uc010dqu.2_Missense_Mutation_p.R428C|ZNF407_uc002llu.2_Missense_Mutation_p.R427C	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TAATAGCTTTCGTCGACGAAG	0.423000														81			15		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113169566	113169566	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113169566C>T	uc010mtz.3	-	37	8651	c.8314G>A	c.(8314-8316)Gcc>Acc	p.A2772T	SVEP1_uc010mty.3_Missense_Mutation_p.A698T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2772	Sushi 22.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATGAAATGGCTTCACAGCGT	0.463000														86			38		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101413856	101413856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:101413856G>A	uc010svm.1	+	8	1351	c.779G>A	c.(778-780)aGa>aAa	p.R260K	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.R225K|ANO4_uc001thx.2_Missense_Mutation_p.R260K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	260						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						AATGCCACAAGAAGTAGAATC	0.308000										HNSCC(74;0.22)				55			27		0	0	1	0	0
CSNK1E	1454	broad.mit.edu	37	22	38699191	38699191	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38699191G>A	uc003avj.3	-	2	400	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	CSNK1E_uc003avk.3_Missense_Mutation_p.P47S|CSNK1E_uc003avm.2_Missense_Mutation_p.P47S|CSNK1E_uc010gxm.2_Non-coding_Transcript	NM_152221	NP_689407	P49674	KC1E_HUMAN	Homo sapiens casein kinase 1, epsilon (CSNK1E), transcript variant 1, mRNA.	47	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					TGCAGCTGGGGGTGCTTTGTC	0.667000														13			7		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206610475	206610476	+	Missense_Mutation	DNP	CG	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:206610475_206610476CG>TA	uc002vaw.3	+	9	2438_2439	c.1647_1648CG>TA	c.(1645-1650)ttcgaa>ttTAaa	p.E550K	NRP2_uc002vau.3_Missense_Mutation_p.E550K|NRP2_uc002vav.3_Missense_Mutation_p.E550K|NRP2_uc002vax.3_Missense_Mutation_p.E550K|NRP2_uc002vay.3_Missense_Mutation_p.E550K	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	550	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.F549F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGCAGCTGTTCGAAGGGAACAT	0.609000														28			12		0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73044544	73044544	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73044544G>A	uc001jro.3	+	2	823	c.372G>A	c.(370-372)gaG>gaA	p.E124E	UNC5B_uc001jrp.3_Silent_p.E124E	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	124	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TTGGGCTGGAGGATTACTGGT	0.682000														72			37		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94884136	94884136	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:94884136G>A	uc002btj.3	+	5	1017	c.952G>A	c.(952-954)Ggt>Agt	p.G318S	MCTP2_uc010urg.1_Missense_Mutation_p.G318S|MCTP2_uc002bti.2_Missense_Mutation_p.G318S|MCTP2_uc010boj.3_Missense_Mutation_p.G47S|MCTP2_uc010bok.3_Missense_Mutation_p.G318S|MCTP2_uc002btg.4_Missense_Mutation_p.G318S|MCTP2_uc002bth.4_Missense_Mutation_p.G318S	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	318					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGTAAAACAGGGTGATTTCAA	0.373000														71			14		0	0	1	0	0
KIAA0240	23506	broad.mit.edu	37	6	42797233	42797233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:42797233C>T	uc003osn.1	+	5	1313	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y	KIAA0240_uc003osm.1_Missense_Mutation_p.H388Y|KIAA0240_uc011duw.1_Missense_Mutation_p.H388Y|KIAA0240_uc003oso.1_Missense_Mutation_p.H388Y|KIAA0240_uc003osp.1_Missense_Mutation_p.H388Y	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	388										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			TATTGTTATTCATTCCCCCAT	0.488000														287			63		0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64644097	64644097	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:64644097C>T	uc001dbj.2	+	8	2772	c.2373C>T	c.(2371-2373)ttC>ttT	p.F791F		NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	791	Pro-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity	p.M790I(1)		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						ATTACATGTTCCCGAGCCAGG	0.507000														96			26		0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14711407	14711407	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:14711407C>T	uc003jfm.4	-	11	1709	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	460					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GACTCATTCTCCATCTTCTTT	0.532000														163			10		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3633209	3633209	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3633209G>A	uc002cvp.2	-	13	5669	c.5042C>T	c.(5041-5043)tCg>tTg	p.S1681L		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1681	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTTGGTGGGCGACCTGCTTGG	0.602000								Direct reversal of damage						59			37		0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469404	72469404	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:72469404G>A	uc010izc.3	+	0	382	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	112						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		CCCGGACTCGGAACAGACACC	0.517000														77			37		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411707	23411707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:23411707G>A	uc004dal.4	+	2	2080	c.2072G>A	c.(2071-2073)cGa>cAa	p.R691Q		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	691					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TACATGGATCGATATGCCTCC	0.488000														21			33		0	0	1	0	0
AGTRAP	57085	broad.mit.edu	37	1	11808498	11808498	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11808498C>T	uc001asv.3	+	3	319	c.195C>T	c.(193-195)atC>atT	p.I65I	AGTRAP_uc001asu.3_Missense_Mutation_p.L98F|AGTRAP_uc001ast.3_Missense_Mutation_p.L98F|AGTRAP_uc001asw.3_Silent_p.I65I|AGTRAP_uc001asx.3_Missense_Mutation_p.L54F	NM_020350	NP_065083	Q6RW13	ATRAP_HUMAN	Homo sapiens angiotensin II receptor-associated protein (AGTRAP), transcript variant 1, mRNA.	65						Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCACCATCTTCCTGGACA	0.627000														57			21		0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110168355	110168355	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110168355C>T	uc009wfh.1	+	3	998	c.456C>T	c.(454-456)ccC>ccT	p.P152P	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Silent_p.P71P|AMPD2_uc001dyc.1_Silent_p.P152P|AMPD2_uc010ovr.1_Silent_p.P77P|AMPD2_uc010ovs.1_Silent_p.P34P|AMPD2_uc001dyd.1_Silent_p.P33P	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	152					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGGAGAGCCCCATTGAACAGC	0.642000														71			20		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113418951	113418951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:113418951G>A	uc003ynu.3	-	34	5770	c.5611C>T	c.(5611-5613)Cct>Tct	p.P1871S	CSMD3_uc003yns.3_Missense_Mutation_p.P1073S|CSMD3_uc003ynt.3_Missense_Mutation_p.P1831S|CSMD3_uc011lhx.2_Missense_Mutation_p.P1767S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1871						integral to membrane|plasma membrane				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						CTTGTTCTAGGAACAGCTGTG	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				56			41		0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76342274	76342274	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:76342274C>T	uc003ket.3	+	5	1355	c.973C>T	c.(973-975)Cat>Tat	p.H325Y		NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	325					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)		AATAGGCATTCATCACAAAAA	0.358000														215			17		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87045909	87045909	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:87045909C>T	uc009wcs.3	+	13	2685	c.2641C>T	c.(2641-2643)Cct>Tct	p.P881S	CLCA4_uc009wct.3_Missense_Mutation_p.P644S|CLCA4_uc009wcu.3_Missense_Mutation_p.P701S	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	881						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			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)		tacacctactcctactcctac	0.348000														48			14		0	0	1	0	0
PON2	5445	broad.mit.edu	37	7	95035513	95035513	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:95035513G>A	uc003unv.3	-	7	945	c.824C>T	c.(823-825)tCc>tTc	p.S275F	PON2_uc003unu.3_Missense_Mutation_p.S263F|PON2_uc010lfk.3_Non-coding_Transcript|PON2_uc003unw.3_Missense_Mutation_p.S188F	NM_000305	NP_000296	Q15165	PON2_HUMAN	Homo sapiens paraoxonase 2 (PON2), transcript variant 1, mRNA.	275					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GTCCCCCGAGGAAGGATCAAT	0.403000														138			48		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57257988	57257988	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57257988G>A	uc001cym.4	-	1	904	c.498C>T	c.(496-498)gcC>gcT	p.A166A	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Silent_p.A166A	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	166								p.A166S(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCAGATGGATGGCCTTACTTC	0.483000														85			50		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94049587	94049587	+	Missense_Mutation	SNP	C	T	T	rs139199272		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94049587C>T	uc003ung.1	+	34	2593	c.2122C>T	c.(2122-2124)Cgg>Tgg	p.R708W	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	708			Missing (in OI2A).|R -> Q (in Marfan syndrome).		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	p.P707P(1)	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)	tgctggtcctCGGGGAAGCCC	0.448000										HNSCC(75;0.22)				91			27		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28667647	28667647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28667647C>T	uc002kwl.4	-	5	1214	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	DSC2_uc002kwk.4_Missense_Mutation_p.E254K	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	254	Cadherin 2.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTGCAATTTTCAAAAATTGTA	0.333000														78			39		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943768	144943768	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144943768G>A	uc003zaa.1	-	0	3667	c.3654C>T	c.(3652-3654)acC>acT	p.T1218T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1218						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCTCAAGGGTCTCCTGGG	0.716000														5			7		0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079198	57079198	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:57079198A>G	uc003xsq.4	-	2	1558	c.1107T>C	c.(1105-1107)tcT>tcC	p.S369S	PLAG1_uc003xsr.4_Silent_p.S369S|PLAG1_uc010lyi.3_Silent_p.S369S|PLAG1_uc010lyj.3_Silent_p.S287S|PLAG1_uc022aur.1_Silent_p.S287S	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	369	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P368S(1)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CTTGGGATGAAGAGGGCACGC	0.453000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									119			47		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7122765	7122765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7122765G>A	uc002mgd.1	-	18	3498	c.3389C>T	c.(3388-3390)cCc>cTc	p.P1130L	INSR_uc002mge.1_Missense_Mutation_p.P1118L	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1130	Protein kinase.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGGGTAGGGGGAGGGCGGCC	0.582000														48			23		0	0	1	0	0
TBCEL	219899	broad.mit.edu	37	11	120925967	120925967	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:120925967C>T	uc001pxo.3	+	4	867	c.662C>T	c.(661-663)tCa>tTa	p.S221L	TBCEL_uc009zay.3_Missense_Mutation_p.S221L|TBCEL_uc001pxp.3_Missense_Mutation_p.S77L|TBCEL_uc001pxq.3_Intron	NM_152715	NP_689928	Q5QJ74	TBCEL_HUMAN	Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA.	221						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		CCTGATGATTCATTGGCCAGG	0.433000														48			25		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62452064	62452064	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:62452064C>T	uc003dll.2	-	24	3862	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K	CADPS_uc003dlj.1_Missense_Mutation_p.E123K|CADPS_uc003dlk.1_Missense_Mutation_p.E616K|CADPS_uc003dlm.2_Missense_Mutation_p.E1129K|CADPS_uc003dln.2_Missense_Mutation_p.E1089K|CADPS_uc021wzv.1_Missense_Mutation_p.E1159K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1168					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCAATTAGTTCGTCTATTTTT	0.363000														18			12		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84537277	84537277	+	Missense_Mutation	SNP	C	T	T	rs142898680	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:84537277C>T	uc004eer.2	-	15	1842	c.1696G>A	c.(1696-1698)Gaa>Aaa	p.E566K	POF1B_uc004ees.3_Missense_Mutation_p.E566K	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	566							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GGTATATATTCGTAGTCATCA	0.373000														17			17		0	0	1	0	0
AGAP8	728404	broad.mit.edu	37	10	51225257	51225257	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:51225257C>T	uc001jij.3	-	6	1851	c.1725G>A	c.(1723-1725)gaG>gaA	p.E575E	PARG_uc001jih.3_Intron|PARG_uc009xoj.3_Intron|PARG_uc001jif.3_Intron|PARG_uc001jig.3_Intron|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Intron|PARG_uc010qgx.2_Intron|AGAP8_uc009xom.3_Silent_p.E490E|AGAP8_uc001jik.3_Silent_p.E559E|AGAP8_uc010qgy.2_Silent_p.E598E|AGAP8_uc021pqg.1_Silent_p.E575E|DQ588224_uc001jil.1_5'Flank	NM_001077686	NP_001071154	Q5SRD3	AGAP8_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 (AGAP8), mRNA.	575					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						TCTGCAGGTCCTCATCAGCGG	0.632000														117			7		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239169470	239169470	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:239169470G>A	uc002vyc.3	-	13	1779	c.1542_splice	c.e13+1	p.A514_splice	PER2_uc010znv.1_Splice_Site_p.A514_splice	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	514					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GAGACGTACGGCTCTCCTCCG	0.567000														342			128		0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	16026826	16026826	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:16026826C>T	uc003goo.2	-	4	831	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	PROM1_uc003gor.2_Missense_Mutation_p.E207K|PROM1_uc003gos.2_Missense_Mutation_p.E198K|PROM1_uc003got.2_Missense_Mutation_p.E207K|PROM1_uc003gou.2_Missense_Mutation_p.E198K|PROM1_uc003gop.2_Missense_Mutation_p.E198K|PROM1_uc003goq.3_Missense_Mutation_p.E198K|PROM1_uc010iec.1_Missense_Mutation_p.E85K	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	207					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TCTGGAGTTTCATTCAAGAGA	0.398000														113			52		0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17943349	17943349	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17943349G>A	uc002nhn.4	-	18	2759	c.2659C>T	c.(2659-2661)Cgt>Tgt	p.R887C	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.R887C	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	887	Protein kinase 2.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R887C(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CTGACACCACGATACTTGACA	0.547000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									108			21		0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34789448	34789448	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:34789448C>T	uc003oju.4	+	1	297	c.63C>T	c.(61-63)tcC>tcT	p.S21S	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	21										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGAATCTTTCCCCAGACAAAA	0.443000														60			5		0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046493	17046493	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17046493G>A	uc001azn.1	-	0	160	c.46C>T	c.(46-48)Ccc>Tcc	p.P16S						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CTCAGGGAGGGGAAGTCTCCT	0.632000														153			13		0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54610467	54610467	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:54610467C>T	uc022adk.1	+	0	449	c.44C>T	c.(43-45)tCc>tTc	p.S15F	VSTM2A_uc010kzf.3_Missense_Mutation_p.S15F	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	15						extracellular region		p.S15S(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GTTTTCTTTTCCGTTTTATAT	0.413000														101			48		0	0	1	0	0
CD79A	973	broad.mit.edu	37	19	42383213	42383213	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42383213C>T	uc002orv.3	+	1	418	c.233C>T	c.(232-234)cCt>cTt	p.P78L	CD79A_uc002oru.3_Missense_Mutation_p.P78L	NM_001783	NP_001774	P11912	CD79A_HUMAN	Homo sapiens CD79a molecule, immunoglobulin-associated alpha (CD79A), transcript variant 1, mRNA.	78	Ig-like C2-type.				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						ACGTGGCCCCCTGAGTTCTTG	0.617000			"""O, S"""		DLBCL									77			29		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060837	9060837	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9060837G>A	uc002mkp.3	-	2	26813	c.26609C>T	c.(26608-26610)tCc>tTc	p.S8870F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8872	Ser-rich.|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						AGATGGTGTGGAATAAAGTGG	0.502000														83			38		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861734	52861734	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:52861734G>A	uc003gzi.3	-	3	1461	c.1454C>T	c.(1453-1455)tCg>tTg	p.S485L		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	485						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGGGCTCTGCGAACTGCCAGG	0.557000														82			33		0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86468627	86468627	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:86468627G>A	uc004ana.3	-	14	3418	c.3274C>T	c.(3274-3276)Cgt>Tgt	p.R1092C	KIF27_uc010mpw.3_Missense_Mutation_p.R1026C|KIF27_uc010mpx.3_Missense_Mutation_p.R995C	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	1092					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GCTTCACCACGAGAGAGGTTA	0.398000														90			37		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502563	140502563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140502563G>A	uc003lip.1	+	0	983	c.983G>A	c.(982-984)gGa>gAa	p.G328E		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	328	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCTTTCTGGAAAAGGCACT	0.418000														211			95		0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59878805	59878805	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:59878805G>A	uc002izk.2	-	7	1255	c.949C>T	c.(949-951)Cat>Tat	p.H317Y		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	317	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTAATTTTATGAACTCCATGA	0.368000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						165			21		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119927487	119927487	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:119927487C>T	uc001ehr.1	+	3	504	c.372C>T	c.(370-372)ctC>ctT	p.L124L	HAO2_uc001ehq.1_Silent_p.L124L	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	124	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CCGAAGGCCTCCGATGGTTCC	0.488000														126			15		0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10428434	10428434	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10428434G>A	uc002moa.3	-	11	2136	c.2056C>T	c.(2056-2058)Ccg>Tcg	p.P686S	FDX1L_uc002mnx.1_5'Flank|FDX1L_uc002mny.1_5'Flank|RAVER1_uc021uou.1_5'Flank|RAVER1_uc002mnz.3_Missense_Mutation_p.P54S	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	513						cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GACCCCAGCGGGGAAGAGCCG	0.692000														14			4		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47274755	47274755	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:47274755C>T	uc002xtw.1	-	16	1916	c.1893G>A	c.(1891-1893)caG>caA	p.Q631Q	PREX1_uc002xtv.1_5'Flank	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	631	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGTCCTCCTCCTGGGGCAGGA	0.672000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		276			32		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823763	38823763	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38823763G>A	uc003avs.1	-	1	472	c.375C>T	c.(373-375)ttC>ttT	p.F125F	KCNJ4_uc003avt.1_Silent_p.F125F|KCNJ4_uc021wpp.1_Silent_p.F125F	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	125					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity	p.A124V(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CCGAGAACAGGAAGGCACCCA	0.697000														99			30		0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1961512	1961512	+	Missense_Mutation	SNP	C	T	T	rs79386457	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1961512C>T	uc001aip.2	+	8	1245	c.1150C>T	c.(1150-1152)Ccg>Tcg	p.P384S		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	384						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.P384L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCGCCGCGTCCCGGGGAACCT	0.687000														38			14		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84456240	84456240	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84456240C>T	uc010chj.3	+	8	869	c.780C>T	c.(778-780)gtC>gtT	p.V260V	ATP2C2_uc002fhx.3_Silent_p.V260V|ATP2C2_uc002fhy.3_Silent_p.V277V|ATP2C2_uc002fhz.3_Silent_p.V109V	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	260					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.G259R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CACAGGGGGTCGTGATTGGAA	0.567000														245			47		0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390532	8390532	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:8390532C>T	uc001apb.3	+	3	979	c.979C>T	c.(979-981)Ccg>Tcg	p.P327S	SLC45A1_uc001apc.3_Missense_Mutation_p.P25S	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	327					carbohydrate transport	integral to membrane	symporter activity	p.P327P(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGACAGCCTCCCGTCGCACAC	0.711000														42			10		0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528889	20528889	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20528889C>T	uc001vwn.1	+	0	686	c.686C>T	c.(685-687)tCa>tTa	p.S229L		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K228Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CCAAAAAAATCATCACATGGG	0.438000														133			49		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713148	70713148	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70713148C>T	uc010ttg.2	-	0	1371	c.720G>A	c.(718-720)ggG>ggA	p.G240G						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		CCACACCATTCCCACAGCGCT	0.468000														88			31		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110977	81110977	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81110977G>A	uc001szg.2	+	0	270	c.135G>A	c.(133-135)gaG>gaA	p.E45E		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	45					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.E45*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ACAAAGCAGAGCTGCAGGGCT	0.622000														24			18		0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274634	29274634	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29274634C>T	uc011dln.2	+	0	168	c.168C>T	c.(166-168)ccC>ccT	p.P56P		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TCCATTCCCCCATGTATTACT	0.468000														173			50		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634644	122634644	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122634644C>T	uc003efz.1	-	12	2086	c.1782G>A	c.(1780-1782)tgG>tgA	p.W594*	SEMA5B_uc011bju.1_Nonsense_Mutation_p.W536*|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Nonsense_Mutation_p.W594*|SEMA5B_uc010hro.1_Nonsense_Mutation_p.W536*	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	594					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGTTCTGGGTCCAGAGGCTCA	0.607000														64			15		0	0	1	0	0
HAPLN4	404037	broad.mit.edu	37	19	19369408	19369408	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19369408C>T	uc002nmb.3	-	3	851	c.741G>A	c.(739-741)ggG>ggA	p.G247G	HAPLN4_uc002nmc.3_Silent_p.G247G	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 4 (HAPLN4), mRNA.	247	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			TGCGCAGGCCCCCGTTGGCAT	0.697000														51			5		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367233	234367233	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:234367233G>A	uc001hvy.1	+	2	499	c.354G>A	c.(352-354)ggG>ggA	p.G118G	SLC35F3_uc001hwa.1_Silent_p.G49G	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	49					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AGGCCGGCGGGAGAGCGAGTC	0.746000														37			23		0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14437579	14437579	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:14437579G>A	uc002yja.4	+	8		c.2249G>A								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		CTGTGggccaggcgccatggc	0.478000														39			8		0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1064220	1064220	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1064220G>A	uc003jbu.3	-	18	2651	c.2585C>T	c.(2584-2586)cCc>cTc	p.P862L	MIR4635_uc021xvy.1_5'Flank	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	862					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CAGCAGGAAGGGCAGCAGCAT	0.692000														24			10		0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47041196	47041196	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:47041196C>T	uc004dhi.3	+	14	2048	c.1819C>T	c.(1819-1821)Cct>Tct	p.P607S	RBM10_uc004dhf.3_Missense_Mutation_p.P542S|RBM10_uc004dhh.3_Missense_Mutation_p.P541S|RBM10_uc010nhq.3_Missense_Mutation_p.P465S|RBM10_uc004dhg.3_Missense_Mutation_p.P464S	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	542	Tyr-rich.				RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCTCCAGAGCCCTACCCATCC	0.602000														23			3		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131666102	131666102	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:131666102C>T	uc021qav.1	-	8	888	c.787G>A	c.(787-789)Gac>Aac	p.D263N	EBF3_uc001lki.2_Missense_Mutation_p.D277N	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	286	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AAGAAGTTGTCGCCAATTATG	0.567000														38			34		0	0	1	0	0
SRRM3	222183	broad.mit.edu	37	7	75894779	75894779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:75894779C>T	uc010ldi.2	+	9	1032	c.823C>T	c.(823-825)Ccc>Tcc	p.P275S	SRRM3_uc011kgi.2_5'UTR	NM_001110199	NP_001103669			Homo sapiens serine/arginine repetitive matrix 3 (SRRM3), mRNA.											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						TTCCAGATCTCCCAGCAGGTA	0.632000														41			15		0	0	1	0	0
HSD17B13	345275	broad.mit.edu	37	4	88235022	88235022	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:88235022G>A	uc003hqo.2	-	4	711	c.648C>T	c.(646-648)ctC>ctT	p.L216L	HSD17B13_uc010ikk.2_Silent_p.L180L	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.	216						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		AAACTGGGCAGAGACATGAGG	0.408000														48			26		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134173	91134173	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:91134173C>T	uc004efk.2	+	1	3779	c.2934C>T	c.(2932-2934)atC>atT	p.I978I	PCDH11X_uc004efl.2_Silent_p.I978I|PCDH11X_uc010nmv.2_Silent_p.I978I|PCDH11X_uc004efm.2_Silent_p.I978I|PCDH11X_uc004efn.2_Silent_p.I978I|PCDH11X_uc004efo.2_Silent_p.I978I|PCDH11X_uc004efh.2_Silent_p.I978I|PCDH11X_uc004efj.1_Silent_p.I978I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	978					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.I978V(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTGACTCTATCTCCAAGTGTT	0.517000														62			88		0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62253103	62253103	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:62253103A>G	uc003dlb.3	+	17	3394	c.2675A>G	c.(2674-2676)aAg>aGg	p.K892R	PTPRG_uc003dlc.3_Missense_Mutation_p.K863R|PTPRG_uc011bfi.2_Missense_Mutation_p.K138R|LOC100506994_uc003dld.4_Intron|LOC100506994_uc010hnp.3_Intron|LOC100506994_uc003dle.4_Intron|LOC100506994_uc010hno.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	892	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGTAGGGTGAAGTTAAGACCT	0.333000														111			42		0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127561577	127561577	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:127561577A>G	uc004bov.3	+	3	589	c.476A>G	c.(475-477)aAc>aGc	p.N159S	OLFML2A_uc010mwr.1_Missense_Mutation_p.N123S|OLFML2A_uc004bow.3_5'Flank	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	159										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						ATCAAGGCCAACCTGAGCCGG	0.582000														56			15		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9382181	9382181	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9382181G>A	uc021wam.1	+	16	1570	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	PLCB4_uc010gbw.1_Missense_Mutation_p.E519K|PLCB4_uc010gbx.3_Missense_Mutation_p.E519K|PLCB4_uc021wal.1_Missense_Mutation_p.E519K|PLCB4_uc002wnh.3_Missense_Mutation_p.E366K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	519					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.N518H(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTTGGAAATGAACTTTCTGC	0.458000														30			18		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222307703	222307703	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:222307703G>A	uc002vmq.3	-	10	1962	c.1920C>T	c.(1918-1920)ctC>ctT	p.L640L	EPHA4_uc002vmr.2_Silent_p.L640L|EPHA4_uc010zlm.1_Silent_p.L581L	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	640	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)		CAGGCACTTTGAGACGCCCAC	0.443000														104			42		0	0	1	0	0
TNNT1	7138	broad.mit.edu	37	19	55652277	55652277	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55652277C>T	uc002qjb.4	-	8	450	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	TNNT1_uc002qjc.4_Missense_Mutation_p.E121K|TNNT1_uc002qje.4_Missense_Mutation_p.E110K|TNNT1_uc002qjd.4_Missense_Mutation_p.E110K|TNNT1_uc002qjf.2_Missense_Mutation_p.E117K	NM_003283	NP_003274	P13805	TNNT1_HUMAN	Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.	121					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CGTTCGCGTTCCTTCTCAGTT	0.562000														65			22		0	0	1	0	0
DJ439558	0	broad.mit.edu	37	10	66585344	66585344	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:66585344G>A	uc021prl.1	-	1		c.26_splice	c.e1+1		ANXA2P3_uc009xpm.1_Non-coding_Transcript					Annexin II and uses thereof.																		TACTATTTACGAAATCCTGTG	0.488000														13			7		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3508653	3508653	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:3508653C>T	uc002kmf.3	-	10	3013	c.2486G>A	c.(2485-2487)gGa>gAa	p.G829E	DLGAP1_uc010wyz.2_Missense_Mutation_p.G829E|DLGAP1_uc010dkn.3_Missense_Mutation_p.G537E|DLGAP1_uc002kme.2_Missense_Mutation_p.G527E|DLGAP1_uc010wyw.2_Missense_Mutation_p.G535E|DLGAP1_uc010wyx.2_Missense_Mutation_p.G551E|DLGAP1_uc010wyy.2_Missense_Mutation_p.G513E|DLGAP1_uc002kmg.3_Missense_Mutation_p.G527E	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	829					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TCGGATTTTTCCTAGAACTGG	0.413000														23			12		0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4199453	4199453	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:4199453G>A	uc003ghp.1	-	4	1138	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	370					biomineral tissue development	extracellular space|integral to membrane		p.R370Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTGTAAATCCGGATTCCAGCC	0.582000														68			31		0	0	1	0	0
CLIC6	54102	broad.mit.edu	37	21	36081686	36081686	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:36081686G>A	uc010gmt.1	+	5	1803	c.1803G>A	c.(1801-1803)agG>agA	p.R601R	CLIC6_uc002yuf.1_Silent_p.R583R	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA.	601	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	p.S601T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						AGGCCCTGAGGAAGCTGGATA	0.453000														75			28		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47514289	47514289	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47514289G>A	uc001cqt.3	+	9	1510	c.1260G>A	c.(1258-1260)tgG>tgA	p.W420*	CYP4X1_uc001cqr.3_Nonsense_Mutation_p.W419*|CYP4X1_uc001cqs.3_Nonsense_Mutation_p.W355*	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	420						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CTGCTGTCTGGAAAAACCCAA	0.418000														171			63		0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450355	158450355	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158450355C>T	uc010pik.2	+	0	688	c.688C>T	c.(688-690)Ccc>Tcc	p.P230S	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ACTTGTGGTTCCCTTTCTGTT	0.438000														140			35		0	0	1	0	0
CASP9	842	broad.mit.edu	37	1	15844812	15844812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:15844812G>A	uc001awn.3	-	1	456	c.211C>T	c.(211-213)Cct>Tct	p.P71S	CASP9_uc001awm.2_Missense_Mutation_p.P71S|CASP9_uc001awo.3_Missense_Mutation_p.P71S|CASP9_uc001awp.3_5'UTR|CASP9_uc009voi.3_5'UTR|CASP9_uc010obm.2_5'UTR	NM_001229	NP_127463	P55211	CASP9_HUMAN	Homo sapiens caspase 9, apoptosis-related cysteine peptidase (CASP9), transcript variant alpha, mRNA.	71	CARD.				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		ATGAACAAAGGAAGAGCCTGA	0.547000														70			25		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70355236	70355236	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:70355236G>A	uc003hek.4	-	2	970	c.923C>T	c.(922-924)tCt>tTt	p.S308F	UGT2B4_uc011cap.2_Missense_Mutation_p.S172F|UGT2B4_uc003hel.4_Missense_Mutation_p.S308F	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	308					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CGACCCCAGAGAAAACACCAC	0.393000														209			83		0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124664732	124664732	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:124664732G>A	uc003yqs.1	-	0	459	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	145	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CGCAGCTTAAGATTTCTGAGA	0.582000														51			20		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281792	152281792	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152281792C>T	uc001ezu.1	-	2	5606	c.5570G>A	c.(5569-5571)gGg>gAg	p.G1857E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1857	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1857G(1)|p.R1856H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGACTGCCCACGGGAGAC	0.542000									Ichthyosis					478			164		0	0	1	0	0
C15orf48	84419	broad.mit.edu	37	15	45724270	45724270	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45724270C>T	uc001zvg.3	+	4	241	c.123_splice	c.e4-1	p.I41_splice	C15orf48_uc001zvh.3_Splice_Site_p.I41_splice|C15orf48_uc021skp.1_5'Flank	NM_197955	NP_922946	Q9C002	NMES1_HUMAN	Homo sapiens chromosome 15 open reading frame 48 (C15orf48), transcript variant 1, mRNA.	41						nucleus				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		TTAATTTTAGCCTTGATCGAA	0.318000														36			8		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149490673	149490673	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149490673G>A	uc010lpk.3	+	39	6038	c.6038G>A	c.(6037-6039)gGg>gAg	p.G2013E		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2016	VWFC 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTGGTGGAGGGGACGGGAGAA	0.642000														29			16		0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46501502	46501502	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:46501502C>T	uc001cov.3	+	28	5444	c.5161C>T	c.(5161-5163)Ccc>Tcc	p.P1721S	MAST2_uc001cow.3_Missense_Mutation_p.P1720S|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	1721					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)					TTATGAGGATCCCAGCCAGGG	0.577000														68			5		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106349795	106349795	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106349795C>T	uc021ser.1	-	3932		c.58690G>A								Parts of antibodies, mostly variable regions.																		GCCTGGCACCCCCTGACAATA	0.642000														62			17		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856145	12856145	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12856145G>A	uc001auj.2	+	3	1528	c.1425G>A	c.(1423-1425)taG>taA	p.*475*		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	0										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGCTGCTAGGGAAGGCGTG	0.517000														137			17		0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2752230	2752230	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:2752230G>A	uc003smr.1	+	6	1576	c.1215G>A	c.(1213-1215)aaG>aaA	p.K405K	AMZ1_uc003sms.1_3'UTR|AMZ1_uc011jwa.1_Silent_p.K154K	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	405							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGGCCATCAAGGAGCATGAAC	0.687000														13			6		0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41957532	41957532	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:41957532G>A	uc003ckv.4	-	7	941	c.740C>T	c.(739-741)cCt>cTt	p.P247L	ULK4_uc003ckw.2_Missense_Mutation_p.P247L|ULK4_uc003ckx.1_Missense_Mutation_p.P247L	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	247	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGAAGCTTTAGGACGAGAAGA	0.274000														76			29		0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2940692	2940692	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:2940692G>A	uc002klo.3	-	4	848	c.609C>T	c.(607-609)tcC>tcT	p.S203S		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	203					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTTCTTTCAAGGAAGCATTTG	0.413000														38			14		0	0	1	0	0
NHLH2	4808	broad.mit.edu	37	1	116380921	116380921	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:116380921C>T	uc021osf.1	-	0	73	c.73G>A	c.(73-75)Ggc>Agc	p.G25S	NHLH2_uc009wgz.3_Missense_Mutation_p.G25S|NHLH2_uc001efy.3_Missense_Mutation_p.G25S	NM_005599	NP_005590	Q02577	HEN2_HUMAN	Homo sapiens nescient helix loop helix 2 (NHLH2), transcript variant 1, mRNA.	25					cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCCGTGCCGCCCAGGGACTCC	0.677000														20			7		0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233273254	233273254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233273254C>T	uc002vss.4	+	6	880	c.827C>T	c.(826-828)tCc>tTc	p.S276F		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	276					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CTGCAGGCTTCCCTGGACCCG	0.652000														98			35		0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71602144	71602144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71602144G>A	uc002fap.2	-	11	1367	c.1268C>T	c.(1267-1269)cCc>cTc	p.P423L		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	423					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CATCACCTCGGGGACTGTGAT	0.522000														48			9		0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108367771	108367771	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108367771A>T	uc003dxd.3	+	16	2391	c.1969A>T	c.(1969-1971)Agt>Tgt	p.S657C	DZIP3_uc003dxf.1_Missense_Mutation_p.S657C|DZIP3_uc011bhm.2_Missense_Mutation_p.S108C|DZIP3_uc003dxg.1_Missense_Mutation_p.S380C	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	657					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CTAGGTTAAGAGTAAACAAAG	0.264000														21			4		0	0	1	0	0
KDM5D	8284	broad.mit.edu	37	Y	21878326	21878326	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:21878326G>C	uc004fug.3	-	14	2158	c.1870C>G	c.(1870-1872)Cgc>Ggc	p.R624G	KDM5D_uc011naz.2_Missense_Mutation_p.R655G|KDM5D_uc010nwy.3_Missense_Mutation_p.R567G|KDM5D_uc011nba.1_Missense_Mutation_p.R624G|KDM5D_uc004fuf.3_5'Flank	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN	Homo sapiens lysine (K)-specific demethylase 5D (KDM5D), transcript variant 2, mRNA.	624	JmjC.				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	CGGAGCCGGCGGTAGTGTTCA	0.527000														14			25		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422713	26422713	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26422713G>A	uc003abz.1	+	42	7023	c.6773G>A	c.(6772-6774)cGg>cAg	p.R2258Q	MYO18B_uc003aca.1_Missense_Mutation_p.R2139Q|MYO18B_uc010guy.1_Missense_Mutation_p.R2140Q|MYO18B_uc010guz.1_Missense_Mutation_p.R2138Q|MYO18B_uc011aka.1_Missense_Mutation_p.R1412Q|MYO18B_uc011akb.1_Missense_Mutation_p.R1771Q|MYO18B_uc010gva.1_Missense_Mutation_p.R241Q|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2258						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						GAAGGGCTCCGGAGGAAGAGA	0.627000														17			12		0	0	1	0	0
KRT8	3856	broad.mit.edu	37	12	53295761	53295761	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53295761G>A	uc009zmk.1	-	2	524	c.504C>T	c.(502-504)ttC>ttT	p.F168F	KRT8_uc001sbd.2_Silent_p.F140F|KRT8_uc009zml.1_Silent_p.F140F|KRT8_uc009zmm.1_Silent_p.F140F	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	140	Coil 1B.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTAGCTCTCGAACATGTTGT	0.572000														63			16		0	0	1	0	0
RNF217	154214	broad.mit.edu	37	6	125397960	125397960	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:125397960C>T	uc003pzr.3	+	3	1268	c.734C>T	c.(733-735)cCa>cTa	p.P245L	RNF217_uc003pzs.3_Missense_Mutation_p.P188L|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	188					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CGCTACCTCCCAGAGAGACCT	0.438000														88			49		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70964210	70964210	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:70964210G>A	uc003pfg.4	-	24	1847	c.1688C>T	c.(1687-1689)cCt>cTt	p.P563L	COL9A1_uc003pfe.4_Missense_Mutation_p.P136L|COL9A1_uc003pff.4_Missense_Mutation_p.P320L	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	563	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ATCACCAGGAGGCCCAGGTTT	0.388000														70			8		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128335798	128335798	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:128335798G>A	uc002top.3	+	8	993	c.940G>A	c.(940-942)Gag>Aag	p.E314K		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	314	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTCCGACTCCGAGAGCTGGGA	0.607000														32			10		0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084466	248084466	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248084466G>A	uc010pzc.2	+	0	147	c.147G>A	c.(145-147)tgG>tgA	p.W49*		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	49			W -> R (in dbSNP:rs11204564).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H48H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGATTCACTGGGACCACCGGC	0.527000														98			23		0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583669	145583669	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145583669C>T	uc003zcc.2	+	2	681	c.517C>T	c.(517-519)Ccg>Tcg	p.P173S	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Missense_Mutation_p.P173S|SLC52A2_uc010mfy.2_Missense_Mutation_p.P173S|SLC52A2_uc011llc.2_Missense_Mutation_p.P85S|SLC52A2_uc003zcd.2_Missense_Mutation_p.P173S	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	173						integral to plasma membrane	receptor activity|riboflavin transporter activity										CCTCGAGTGCCCGCCAGCCCC	0.667000														100			21		0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31743882	31743882	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:31743882G>A	uc021wuu.1	-	6	1885	c.1214C>T	c.(1213-1215)tCa>tTa	p.S405L	OSBPL10_uc003ceu.1_Missense_Mutation_p.S162L|OSBPL10_uc011axf.2_Missense_Mutation_p.S341L	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	405					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTTGAGTTGTGAAATGAGATG	0.428000														58			13		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46801068	46801068	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46801068G>A	uc011dwh.1	+	9	1494	c.1486G>A	c.(1486-1488)Ggg>Agg	p.G496R	MEP1A_uc010jzh.1_Missense_Mutation_p.G468R|MEP1A_uc011dwg.1_Missense_Mutation_p.G190R|MEP1A_uc011dwi.1_Missense_Mutation_p.G368R	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	468	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ATATGGTTTTGGGGTAACTTT	0.493000														77			31		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32256892	32256892	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32256892C>T	uc001bts.1	-	16	3021	c.2963_splice	c.e16-1	p.G988_splice	SPOCD1_uc001btr.1_3'UTR|SPOCD1_uc001btu.3_Intron|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	988					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGCCCAAAGGCCTGCGGGGAA	0.582000														24			6		0	0	1	0	0
DOC2A	8448	broad.mit.edu	37	16	30018572	30018572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30018572C>T	uc002dvn.3	-	5	767	c.576G>A	c.(574-576)ggG>ggA	p.G192G	BOLA2_uc010bzb.1_Intron|DOC2A_uc010vef.2_Non-coding_Transcript|DOC2A_uc002dvo.3_Silent_p.G192G|DOC2A_uc002dvp.3_Silent_p.G192G|DOC2A_uc002dvq.3_Silent_p.G192G	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	Homo sapiens double C2-like domains, alpha (DOC2A), mRNA.	192	C2 1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						CGCGGATCTCCCCAATAAACT	0.622000														62			32		0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91371958	91371958	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:91371958C>T	uc001tbk.3	-	2	340	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K		NM_004950	NP_004941	Q99645	EPYC_HUMAN	Homo sapiens epiphycan (EPYC), mRNA.	83	Poly-Glu.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.E83K(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TCCTCCTCTTCCTCTTCCTGG	0.507000											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		102			37		0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121774626	121774626	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:121774626G>A	uc003idn.3	-	2	497	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	PRDM5_uc003ido.3_Missense_Mutation_p.R83C|PRDM5_uc010ine.3_Missense_Mutation_p.R83C|PRDM5_uc010inf.3_Missense_Mutation_p.R83C|PRDM5_uc003idp.1_Missense_Mutation_p.R83C	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	83	SET.				histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAACGAAGCGAAGCCAGTTG	0.468000														426			36		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833351	24833351	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:24833351C>T	uc001iru.4	+	18	5555	c.5152C>T	c.(5152-5154)Ccg>Tcg	p.P1718S	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.P1401S|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.P554S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1718					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTTGCTAGTTCCGGATGAAGG	0.512000														41			25		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749831	51749832	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:51749831_51749832CC>AT	uc010hlv.3	+	3	2281_2282	c.2042_2043CC>AT	c.(2041-2043)gcc>gAT	p.A681D	GRM2_uc003dbo.4_Missense_Mutation_p.A63D|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	681					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TCACAGGTGGCCATCTGCCTGG	0.673000														40			9		0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100754	8100754	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:8100754C>T	uc001ijz.3	+	2	1285	c.728C>T	c.(727-729)tCc>tTc	p.S243F	GATA3_uc001ika.3_Missense_Mutation_p.S243F	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	243					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CTGGGCGGCTCCCCCACCGGC	0.672000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""							44			20		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71839936	71839936	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71839936G>A	uc010fen.3	+	39	4528	c.4387_splice	c.e39+1	p.D1463_splice	DYSF_uc010fei.3_Splice_Site_p.D1462_splice|DYSF_uc010feh.3_Splice_Site_p.D1431_splice|DYSF_uc002sig.4_Splice_Site_p.D1431_splice|DYSF_uc010yqx.2_Splice_Site|DYSF_uc010feg.3_Splice_Site_p.D1476_splice|DYSF_uc010fee.3_Splice_Site_p.D1445_splice|DYSF_uc010fef.3_Splice_Site_p.D1462_splice|DYSF_uc002sie.3_Splice_Site_p.D1445_splice|DYSF_uc010feo.3_Splice_Site_p.D1477_splice|DYSF_uc010fej.3_Splice_Site_p.D1432_splice|DYSF_uc010fel.3_Splice_Site_p.D1432_splice|DYSF_uc010fem.3_Splice_Site_p.D1446_splice|DYSF_uc002sif.3_Splice_Site_p.D1446_splice|DYSF_uc010fek.3_Splice_Site_p.D1463_splice|DYSF_uc010yqy.2_Splice_Site_p.D326_splice|DYSF_uc010yqz.2_Splice_Site_p.D185_splice	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1445						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGGTGGCCCAGGTAGGGGAAG	0.632000														28			7		0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110980464	110980464	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110980464C>T	uc003ynr.4	-	2	2160	c.1356G>A	c.(1354-1356)aaG>aaA	p.K452K	KCNV1_uc010mcw.3_Silent_p.K452K	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	452						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGGTAAGCTTCTTTAGGGCTT	0.448000														54			20		0	0	1	0	0
TESC	54997	broad.mit.edu	37	12	117494630	117494630	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117494630G>A	uc001twh.3	-	2	354	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	TESC_uc001twi.3_Non-coding_Transcript|TESC_uc021rem.1_Intron	NM_017899	NP_060369	Q96BS2	TESC_HUMAN	Homo sapiens tescalcin (TESC), transcript variant 1, mRNA.	64					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		AAGAAGGCACGAACAATTTTG	0.507000														32			57		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659540	176659540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176659540C>T	uc001gkz.3	+	4	3569	c.2405C>T	c.(2404-2406)cCg>cTg	p.P802L	PAPPA2_uc001gky.1_Missense_Mutation_p.P802L|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	802					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAGGGGCTCCGTTCACCAAC	0.567000														103			12		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120135468	120135468	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:120135468G>A	uc001txj.2	-	45	5934	c.5878C>T	c.(5878-5880)Cgc>Tgc	p.R1960C	CIT_uc001txh.2_Missense_Mutation_p.R1437C|CIT_uc001txi.2_Missense_Mutation_p.R1918C	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1918					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGTTACCTGCGGGAGGTGGAC	0.527000														132			32		0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991461	39991461	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:39991461C>T	uc002xjy.1	-	3	972	c.748G>A	c.(748-750)Gag>Aag	p.E250K		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	250						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTTAGGATCTCGTCTAAGGGA	0.602000														55			18		0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24775279	24775279	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24775279G>A	uc003xed.4	+	2	1944	c.1911G>A	c.(1909-1911)gaG>gaA	p.E637E	NEFM_uc011lac.1_Intron|NEFM_uc010lue.3_Silent_p.E261E	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	637	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton	p.E636K(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CAGTGGAAGAGAAAGGCAAGT	0.507000														115			34		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87029421	87029421	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:87029421C>T	uc009wcs.3	+	3	570	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	CLCA4_uc009wct.3_Intron|CLCA4_uc009wcu.3_Intron	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	176						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			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)		GCCTTTCTACCGTGCTAAGTC	0.398000														75			27		0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026425	182026425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:182026425C>T	uc001goz.3	-	1	929	c.721G>A	c.(721-723)Gag>Aag	p.E241K	ZNF648_uc021pfu.1_Missense_Mutation_p.E241K	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TCTCCGCCCTCGCGCCGGCCC	0.731000														11			4		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46825952	46825952	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46825952G>A	uc003oyo.3	-	16	3977	c.3688C>T	c.(3688-3690)Ctc>Ttc	p.L1230F	GPR116_uc011dwj.1_Missense_Mutation_p.L785F|GPR116_uc011dwk.1_Missense_Mutation_p.L659F|GPR116_uc003oyp.3_Missense_Mutation_p.L1088F|GPR116_uc003oyq.3_Missense_Mutation_p.L1230F|GPR116_uc010jzi.1_Missense_Mutation_p.L902F	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1230					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCCCAAGTGAGGCCCAAGAGT	0.507000														97			41		0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220097337	220097337	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220097337C>T	uc002vkg.3	+	4	664	c.490C>T	c.(490-492)Cga>Tga	p.R164*	ATG9A_uc002vke.1_5'Flank|ATG9A_uc002vkf.1_5'Flank|ANKZF1_uc010zkv.1_Nonsense_Mutation_p.R108*|ANKZF1_uc010zkw.1_5'UTR|ANKZF1_uc002vkh.3_5'UTR|ANKZF1_uc002vki.3_Nonsense_Mutation_p.R164*|ANKZF1_uc002vkj.1_Nonsense_Mutation_p.R152*	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA.	164						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTACCCTCATCGAGTTCTTTT	0.537000														90			35		0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23926680	23926680	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:23926680C>T	uc002nrk.4	-	3	1814	c.1672G>A	c.(1672-1674)Gga>Aga	p.G558R	ZNF681_uc002nrl.4_Missense_Mutation_p.G489R|ZNF681_uc002nrj.4_Missense_Mutation_p.G489R	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GGTTTCTCTCCAGTATGAATT	0.398000														107			9		0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84363153	84363153	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:84363153C>T	uc004een.3	-	0	822	c.822G>A	c.(820-822)atG>atA	p.M274I		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	87	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GGTTCATGTCCATTTGGTTCA	0.448000														52			19		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141093193	141093193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141093193G>A	uc002tvj.1	-	77	13079	c.12107C>T	c.(12106-12108)cCt>cTt	p.P4036L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4036					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.P4036S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCTCTTTTAGGATTTACTGC	0.378000										TSP Lung(27;0.18)				94			36		0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101180539	101180539	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:101180539G>A	uc001kpr.3	-	1	350	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	GOT1_uc009xwi.2_Missense_Mutation_p.P48S	NM_002079	NP_002070	P17174	AATC_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA.	48					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AAAACCCAGGGATGGCAGTCA	0.473000														117			28		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51957554	51957554	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51957554C>T	uc002pwt.3	-	5	1231	c.1164G>A	c.(1162-1164)agG>agA	p.R388R	SIGLEC8_uc010yda.2_Silent_p.R279R|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Silent_p.R295R	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	388			R -> G (in dbSNP:rs3829659).		cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.R388G(1)		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)		CCGATTTCTTCCTGCAGGACC	0.587000														83			32		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105920842	105920842	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105920842C>T	uc001kxw.3	-	26	3609	c.3493G>A	c.(3493-3495)Gag>Aag	p.E1165K	WDR96_uc009xxq.3_Missense_Mutation_p.E473K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1165										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACTTTTTTCTCATAATCTTTG	0.333000														33			12		0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150316934	150316934	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:150316934C>T	uc001eum.4	+	11	1713	c.1551C>T	c.(1549-1551)gcC>gcT	p.A517A	PRPF3_uc009wlp.2_Non-coding_Transcript|PRPF3_uc010pca.2_Silent_p.A476A|PRPF3_uc010pcb.2_Silent_p.A468A|PRPF3_uc009wlq.1_Non-coding_Transcript	NM_004698	NP_004689	O43395	PRPF3_HUMAN	Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.	517					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CCAACGCTGCCCGAAAACTCA	0.468000														133			7		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226093	39226093	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:39226093A>G	uc003cjk.2	-	1	5073	c.4844T>C	c.(4843-4845)gTt>gCt	p.V1615A	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.V298A|XIRP1_uc021wvz.1_Missense_Mutation_p.V1615A	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1615							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)		GTGGCATTCAACCTTGGCTTG	0.572000														134			48		0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74863238	74863238	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:74863238C>T	uc004air.3	+	13	1554	c.1345C>T	c.(1345-1347)Ccg>Tcg	p.P449S	GDA_uc011lse.2_Missense_Mutation_p.P375S|GDA_uc004aiq.3_Missense_Mutation_p.P449S|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.P375S|GDA_uc004ais.3_Missense_Mutation_p.P371S	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	449					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.P449Q(1)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GCAGGTGGTTCCGTTTTCCAG	0.448000														97			24		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79429947	79429947	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:79429947C>T	uc003hlb.2	+	62	10007	c.9567C>T	c.(9565-9567)tcC>tcT	p.S3189S	FRAS1_uc003hlc.1_Silent_p.S191S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3184					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCAAGAAATCCCCCTCCCCAG	0.547000														21			9		0	0	1	0	0
TRA2B	6434	broad.mit.edu	37	3	185638963	185638963	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:185638963G>A	uc003fpv.3	-	5	927	c.651C>T	c.(649-651)cgC>cgT	p.R217R	TRA2B_uc003fpt.3_Non-coding_Transcript|TRA2B_uc003fpu.3_Non-coding_Transcript|TRA2B_uc010hym.3_Silent_p.R117R	NM_004593	NP_001230808	P62995	TRA2B_HUMAN	Homo sapiens transformer 2 beta homolog (Drosophila) (TRA2B), transcript variant 1, mRNA.	217	Linker.				nuclear mRNA splicing, via spliceosome	nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						AATCCCGACGGCGAGAGCTGC	0.418000														72			25		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122001064	122001064	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122001064G>A	uc003eew.4	+	5	2181	c.1743G>A	c.(1741-1743)ggG>ggA	p.G581G	CASR_uc003eev.4_Silent_p.G571G	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	571					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)	GTCCTGATGGGGAGTATAGTG	0.597000														67			31		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167184964	167184964	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:167184964C>T	uc003fes.1	-	2	458	c.387G>A	c.(385-387)gtG>gtA	p.V129V	SERPINI2_uc003fer.1_Silent_p.V119V|SERPINI2_uc003fet.1_Silent_p.V119V	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	119					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.E129E(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACTGTTCTTTCACAGTGAATC	0.368000														75			33		0	0	1	0	0
GPCPD1	56261	broad.mit.edu	37	20	5528378	5528378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:5528378G>A	uc002wme.4	-	19	2161	c.1948C>T	c.(1948-1950)Ccc>Tcc	p.P650S	GPCPD1_uc002wmd.4_Missense_Mutation_p.P469S	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	Homo sapiens glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) (GPCPD1), mRNA.	650					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						AAAGATGAGGGAACAAAGCGG	0.458000														132			66		0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51452325	51452325	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51452325C>T	uc002pue.3	-	4	600	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	KLK5_uc002puf.3_Missense_Mutation_p.E128K|KLK5_uc002pug.3_Missense_Mutation_p.E128K	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	128	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TGCCCAGATTCATAAACTGGT	0.542000														109			38		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237604620	237604620	+	Splice_Site	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:237604620A>G	uc001hyl.1	+	13	1126	c.1006_splice	c.e13-1	p.E336_splice		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	336	MIR 4.				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)			TCCCCTTAGGAAAAATTGGAT	0.358000														55			24		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688164	60688164	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:60688164G>A	uc002sae.1	-	3	2111	c.1883C>T	c.(1882-1884)tCg>tTg	p.S628L	BCL11A_uc002sab.3_Missense_Mutation_p.S628L|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.S297L|BCL11A_uc010ypj.2_Missense_Mutation_p.S594L|BCL11A_uc002sad.1_Missense_Mutation_p.S476L|BCL11A_uc002saf.1_Missense_Mutation_p.S594L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	628					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGGGCTCAGCGAGCTGGGGCT	0.662000			T	IGH@	B-CLL									35			18		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43788217	43788217	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:43788217G>A	uc001uza.4	-	16	2141	c.1841C>T	c.(1840-1842)cCa>cTa	p.P614L	ENOX1_uc001uzc.4_Missense_Mutation_p.P614L|ENOX1_uc001uzb.4_Missense_Mutation_p.P614L	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	614					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GAACATGCGTGGCAGCCTCAT	0.428000														111			13		0	0	1	0	0
OR4F15	390649	broad.mit.edu	37	15	102358832	102358832	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:102358832C>T	uc010uts.2	+	0	443	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTAGCCACTTCCTCTATCATT	0.403000														261			82		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872882	55872882	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55872882C>T	uc010riy.2	+	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(2)|p.R122R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GGCCCATGATCGCTATGCAGC	0.458000										HNSCC(53;0.14)				256			67		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650958	94650958	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94650958G>A	uc001dqj.4	-	16	2229	c.1860C>T	c.(1858-1860)tcC>tcT	p.S620S	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Silent_p.S186S	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	620					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATTTCGTGGGGGATCTCAATT	0.398000														82			37		0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39696876	39696876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:39696876G>A	uc001rly.3	-	35	5042	c.4622C>T	c.(4621-4623)cCt>cTt	p.P1541L	KIF21A_uc001rlv.3_Missense_Mutation_p.P486L|KIF21A_uc001rlw.3_Missense_Mutation_p.P811L|KIF21A_uc001rlx.3_Missense_Mutation_p.P1528L|KIF21A_uc001rlz.3_Missense_Mutation_p.P1488L|KIF21A_uc010skl.2_Missense_Mutation_p.P1504L|KIF21A_uc001rlt.3_Missense_Mutation_p.P161L|KIF21A_uc001rlu.3_Missense_Mutation_p.P161L	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	1541					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATCATAATGAGGGGGTTCAAA	0.388000														119			10		0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48921756	48921756	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48921756G>A	uc010slu.2	+	1	950	c.950G>A	c.(949-951)tGg>tAg	p.W317*		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CAGGCCAGATGGAAGAGACCA	0.577000														50			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590249	179590249	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179590249C>T	uc021vsy.1	-	67	17175	c.16950G>A	c.(16948-16950)gtG>gtA	p.V5650V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V2311V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6577	Ig-like 37.						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)			TTTCTCTAATCACTTCTTCCT	0.438000														59			24		0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22311705	22311705	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22311705G>A	uc002zvs.3	-	17	2805	c.2370C>T	c.(2368-2370)ctC>ctT	p.L790L	TOP3B_uc010gtm.2_3'UTR|TOP3B_uc002zvt.4_Silent_p.L790L|TOP3B_uc010gtl.3_Silent_p.L790L	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	790					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CATCGCCCGGGAGTGGGGACT	0.642000														21			4		0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105484080	105484080	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105484080C>T	uc010qqu.1	-	2	203	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	SH3PXD2A_uc001kxj.1_Missense_Mutation_p.E116K	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	116	PX.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGGAAGACTTCGTCACACTGT	0.552000														27			14		0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224134	248224134	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248224134G>A	uc001idx.1	+	0	151	c.151G>A	c.(151-153)Gac>Aac	p.D51N	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CATCTTCTTGGACACCCATCT	0.413000														416			159		0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75157303	75157303	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:75157303A>T	uc003yae.3	-	3	1406	c.1366T>A	c.(1366-1368)Tat>Aat	p.Y456N	JPH1_uc003yaf.3_Missense_Mutation_p.Y456N|JPH1_uc003yag.1_Missense_Mutation_p.Y320N	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	456					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)			CCTTTGCGATAAAAATGAGGA	0.483000														116			15		0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27135420	27135420	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:27135420G>A	uc003sye.3	-	0	206	c.112C>T	c.(112-114)Cag>Tag	p.Q38*	HOXA1_uc003syd.3_Nonsense_Mutation_p.Q38*|HOXA1_uc022aao.1_Nonsense_Mutation_p.Q38*|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	38						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCGCACGACTGGAAAGTTGTA	0.617000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		109			46		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170037998	170037998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170037998C>T	uc002ues.3	-	51	10342	c.10129G>A	c.(10129-10131)Gat>Aat	p.D3377N		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3377					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAGAGTAGATCATTGGTGTAA	0.418000														78			22		0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133942568	133942568	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:133942568C>T	uc004caa.1	+	13	2667	c.2569C>T	c.(2569-2571)Cct>Tct	p.P857S		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	857	Laminin EGF-like 8.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CGCCCTGGCCCCTCGACCCGC	0.647000														48			46		0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	16021923	16021923	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:16021923G>A	uc002wou.3	+	16	1495	c.1231_splice	c.e16+1	p.V411_splice	MACROD2_uc002wot.3_Splice_Site_p.A411_splice|MACROD2_uc002woz.3_Splice_Site_p.V176_splice|MACROD2_uc002wpb.3_Splice_Site_p.A176_splice|MACROD2_uc002wpd.3_Splice_Site_p.V62_splice	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	411										breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGGTCCTGATGGTAAGGTTCT	0.443000														26			18		0	0	1	0	0
AQP6	363	broad.mit.edu	37	12	50366976	50366977	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:50366976_50366977GG>AA	uc001rvr.1	+	0	713_714	c.20_21GG>AA	c.(19-21)ggg>gAA	p.G7E	AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_Non-coding_Transcript	NM_001652	NP_001643	Q13520	AQP6_HUMAN	Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA.	7					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GTGGAGCCAGGGGGACGTGGCT	0.594000														43			8		0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235949554	235949554	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:235949554C>T	uc002vvp.3	+	3	534	c.141C>T	c.(139-141)ctC>ctT	p.L47L	SH3BP4_uc010fym.3_Silent_p.L47L|SH3BP4_uc002vvq.3_Silent_p.L47L	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	47					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GTGCCTTGCTCGTAGACAACC	0.542000														97			41		0	0	1	0	0
KCNE1	3753	broad.mit.edu	37	21	35821901	35821901	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:35821901G>A	uc021wit.1	-	0	32	c.32C>T	c.(31-33)cCc>cTc	p.P11L	KCNE1_uc010gmp.3_Missense_Mutation_p.P11L|KCNE1_uc002ytz.3_Missense_Mutation_p.P11L|KCNE1_uc010gmq.3_Missense_Mutation_p.P11L|KCNE1_uc010gmr.3_Missense_Mutation_p.P11L|KCNE1_uc010gms.3_Missense_Mutation_p.P11L|KCNE1_uc002yua.3_Non-coding_Transcript	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA.	11					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	GGTCAGAAAGGGCGTCACCGC	0.587000														39			13		0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62632583	62632583	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62632583C>T	uc002yho.3	+	8	1345	c.1177C>T	c.(1177-1179)Ctt>Ttt	p.L393F	PRPF6_uc002yhp.3_Missense_Mutation_p.L393F	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	393					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	p.V392V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GAAGCGGGTTCTTCGGAAAGG	0.587000														39			23		0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137570244	137570244	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:137570244G>A	uc003vtw.3	-	8	1444	c.1048C>T	c.(1048-1050)Ctc>Ttc	p.L350F	CREB3L2_uc003vtx.2_Missense_Mutation_p.L350F|CREB3L2_uc003vtv.3_Missense_Mutation_p.L287F	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	350	Leucine-zipper.				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TGCTGAAGGAGAGTCCTGCCA	0.532000			T	FUS	fibromyxoid sarcoma									63			25		0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114377567	114377567	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:114377567C>T	uc001eds.3	-	13	1989	c.1859G>A	c.(1858-1860)tGg>tAg	p.W620*	PTPN22_uc021orx.1_Nonsense_Mutation_p.W620*|PTPN22_uc009wgq.3_Nonsense_Mutation_p.W565*|PTPN22_uc021ory.1_Nonsense_Mutation_p.W596*|PTPN22_uc010owo.2_Nonsense_Mutation_p.W376*|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Nonsense_Mutation_p.W620*|PTPN22_uc009wgs.2_Nonsense_Mutation_p.W493*|PTPN22_uc001edu.2_Nonsense_Mutation_p.W620*	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	620			R -> W (confers susceptibility to systemic lupus erythematosus and type 1 diabetes mellitus; affects CSK kinase binding; dbSNP:rs2476601).		T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCAGGTGTCCATACAGGAAG	0.383000														193			13		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25890627	25890627	+	Silent	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:25890627A>T	uc003xes.2	-	5	790	c.525T>A	c.(523-525)acT>acA	p.T175T	DOCK5_uc003xek.3_Intron|EBF2_uc003xet.2_Silent_p.T175T	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	175					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GGTCCGATGGAGTCTCATTTC	0.388000														119			7		0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166408691	166408691	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:166408691G>A	uc003irg.4	+	5	1352	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	359					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GACCTACTGGGAGGATAACAA	0.443000														56			18		0	0	1	0	0
TTC23	64927	broad.mit.edu	37	15	99759112	99759112	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:99759112G>A	uc002bur.3	-	5	977	c.446C>T	c.(445-447)tCc>tTc	p.S149F	TTC23_uc002bus.3_Missense_Mutation_p.S149F|TTC23_uc002but.3_Missense_Mutation_p.S149F|TTC23_uc002buu.3_Missense_Mutation_p.S149F|TTC23_uc002buv.3_Missense_Mutation_p.S149F|TTC23_uc002bux.3_Missense_Mutation_p.S149F|TTC23_uc002buw.3_Missense_Mutation_p.S149F|TTC23_uc010boq.3_Non-coding_Transcript|TTC23_uc002buy.3_Missense_Mutation_p.S149F|TTC23_uc010bor.3_Missense_Mutation_p.S149F|TTC23_uc002buz.2_Missense_Mutation_p.S149F	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	149							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CTTTTGAAGGGAGAGTAAAGC	0.393000														105			79		0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103061833	103061833	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:103061833C>T	uc003vbz.3	-	2	391	c.129G>A	c.(127-129)gcG>gcA	p.A43A	SLC26A5_uc003vbt.2_Silent_p.A43A|SLC26A5_uc003vbu.2_Silent_p.A43A|SLC26A5_uc003vbv.2_Silent_p.A43A|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Silent_p.A43A	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	43					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.I42I(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TCAGCTTATCCGCAATGGAAT	0.433000														49			10		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74659801	74659801	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74659801G>A	uc002axt.2	-	0	281	c.126C>T	c.(124-126)acC>acT	p.T42T	CYP11A1_uc002axs.2_5'Flank|CYP11A1_uc010bjm.1_5'Flank|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.3_Silent_p.T42T	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	42					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GAGGACTGCGGGTGGAGATGC	0.622000														57			52		0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150768843	150768843	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150768843C>T	uc022apz.1	+	14	3299	c.2259C>T	c.(2257-2259)gtC>gtT	p.V753V	SLC4A2_uc003wit.4_Silent_p.V753V|SLC4A2_uc011kve.2_Silent_p.V744V|SLC4A2_uc003wiu.4_Silent_p.V739V	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	753	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGCGTGGTCTTCTGCCTGC	0.622000														106			41		0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52775175	52775175	+	Silent	SNP	C	T	T	rs114877532	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52775175C>T	uc001sah.1	-	4	1095	c.1047G>A	c.(1045-1047)cgG>cgA	p.R349R		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	349	Coil 2.|Rod.					keratin filament	structural constituent of epidermis	p.R349Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCATCAGCCCGGCTGCGCC	0.577000														193			38		0	0	1	0	0
TRAF2	7186	broad.mit.edu	37	9	139815662	139815663	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139815662_139815663CC>TT	uc004cjv.3	+	8	1190_1191	c.1133_1134CC>TT	c.(1132-1134)tcc>tTT	p.S378F	TRAF2_uc010nbu.3_Missense_Mutation_p.S378F|TRAF2_uc011mek.2_Missense_Mutation_p.S367F|TRAF2_uc010nbw.3_Missense_Mutation_p.S353F	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	Homo sapiens TNF receptor-associated factor 2 (TRAF2), mRNA.	378	MATH.				activation of NF-kappaB-inducing kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|protein K63-linked ubiquitination|protein autoubiquitination|protein homotrimerization|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GCCATCTTCTCCCCAGGTGTGG	0.599000														41			16		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	825636	825636	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:825636C>T	uc002cjz.1	-	4	1125	c.1125G>A	c.(1123-1125)ggG>ggA	p.G375G		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	103					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TCGGGTCATCCCCACGGCCAC	0.716000														13			17		0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211158482	211158482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:211158482C>T	uc002vec.3	-	4	650	c.521G>A	c.(520-522)gGt>gAt	p.G174D	MYL1_uc002veb.3_Missense_Mutation_p.G130D	NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	174	EF-hand 3.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GTCTTCTTGACCTGCCATCAG	0.428000														216			51		0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55081805	55081805	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55081805C>T	uc001cxn.3	-	2	435	c.303G>A	c.(301-303)ggG>ggA	p.G101G	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	101						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTGCCGAGCCCTTCTACAT	0.512000														75			10		0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50324451	50324451	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:50324451C>T	uc002egd.1	+	1	523	c.255C>T	c.(253-255)gtC>gtT	p.V85V	ADCY7_uc002egb.1_Silent_p.V85V|ADCY7_uc002egc.2_Silent_p.V85V	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	85					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGATGTACGTCGAGTGTCTCC	0.642000														52			29		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356729	42356729	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:42356729G>A	uc001wvm.3	+	2	2099	c.901G>A	c.(901-903)Gga>Aga	p.G301R	LRFN5_uc010ana.3_Missense_Mutation_p.G301R	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	301	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGTCCTGGAGGGACAAAGGGC	0.468000										HNSCC(30;0.082)				97			41		0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74365888	74365888	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:74365888C>T	uc003hhb.3	+	11	1621	c.1590C>T	c.(1588-1590)acC>acT	p.T530T		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	530	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTTATTTACCTTTCACGCAG	0.393000														60			7		0	0	1	0	0
CPLX3	594855	broad.mit.edu	37	15	75122494	75122494	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:75122494C>T	uc002ayu.1	+	2	1504	c.276C>T	c.(274-276)atC>atT	p.I92I		NM_001030005	NP_001025176	Q8WVH0	CPLX3_HUMAN	Homo sapiens complexin 3 (CPLX3), mRNA.	92						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						AGAGCCAGATCCAGATGGCAG	0.612000														66			17		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40231823	40231823	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:40231823G>A	uc003cka.3	+	9	1669	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.E512K|MYRIP_uc010hhw.3_Missense_Mutation_p.E423K|MYRIP_uc011ayz.2_Missense_Mutation_p.E325K|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	512	Actin-binding.|Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GGACAGCAGCGAGCCGGAGGA	0.647000														73			34		0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959603	45959603	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45959603G>A	uc002zfh.1	-	0	476	c.431C>T	c.(430-432)cCt>cTt	p.P144L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	144	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCAGCAAACAGGCACACAGCA	0.582000														144			40		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173542416	173542416	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:173542416G>A	uc001giz.2	-	8	1374	c.951C>T	c.(949-951)ttC>ttT	p.F317F	SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	317					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CAATGCCAAAGAAAGCATATA	0.284000														41			22		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103427792	103427792	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:103427792C>T	uc001dum.3	-	39	3408	c.3090G>A	c.(3088-3090)ggG>ggA	p.G1030G	COL11A1_uc001duk.3_Silent_p.G214G|COL11A1_uc001dul.3_Silent_p.G1018G|COL11A1_uc001dun.3_Silent_p.G979G|COL11A1_uc009weh.3_Silent_p.G902G	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1018	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)		GTCCATCTTTCCCTGAGATAC	0.383000														77			41		0	0	1	0	0
MPV17L2	84769	broad.mit.edu	37	19	18304780	18304780	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18304780C>T	uc010ebj.3	+	0	721	c.102C>T	c.(100-102)gtC>gtT	p.V34V	MPV17L2_uc002nid.3_Silent_p.V98V			Q567V2	M17L2_HUMAN	Homo sapiens MPV17 mitochondrial membrane protein-like 2 (MPV17L2), nuclear gene encoding mitochondrial protein, mRNA.	98						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						TCCCAAATGTCCTCAAGAAGG	0.577000														30			21		0	0	1	0	0
MB	4151	broad.mit.edu	37	22	36007060	36007060	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:36007060C>T	uc003anz.3	-	1	269	c.189G>A	c.(187-189)aaG>aaA	p.K63K	MB_uc003aoa.3_Silent_p.K63K|MB_uc003aob.3_Silent_p.K63K	NM_005368	NP_976312	P02144	MYG_HUMAN	Homo sapiens myoglobin (MB), transcript variant 1, mRNA.	63							heme binding|oxygen transporter activity			lung(1)	1						CACCATGCTTCTTTAAGTCCT	0.547000														91			18		0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154744764	154744764	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154744764G>A	uc021pah.1	-	2	1449	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	KCNN3_uc001ffo.3_Missense_Mutation_p.P74S|KCNN3_uc001ffp.3_Missense_Mutation_p.P379S|KCNN3_uc009wox.1_Missense_Mutation_p.P379S	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	384						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TACTCGCCAGGAATGGGGTGG	0.597000														30			8		0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37690748	37690748	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37690748C>T	uc003arf.3	+	2	266	c.150C>T	c.(148-150)ttC>ttT	p.F50F	CYTH4_uc003ard.4_Silent_p.F50F|CYTH4_uc003are.2_Silent_p.F50F|CYTH4_uc011amw.2_5'UTR	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	50					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TCGACTGCTTCGAGAGTGCGG	0.592000														73			35		0	0	1	0	0
CEPT1	10390	broad.mit.edu	37	1	111724867	111724867	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111724867C>T	uc001eah.1	+	5	981	c.773C>T	c.(772-774)aCc>aTc	p.T258I	CEPT1_uc001eai.1_Missense_Mutation_p.T258I|CEPT1_uc001eaj.1_Missense_Mutation_p.T258I	NM_001007794	NP_006081	Q9Y6K0	CEPT1_HUMAN	Homo sapiens choline/ethanolamine phosphotransferase 1 (CEPT1), transcript variant 2, mRNA.	258						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GTAGCAGGGACCATATTTTCC	0.338000														48			17		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129149928	129149928	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:129149928C>T	uc022cdu.1	+	2	3224	c.3180C>T	c.(3178-3180)ttC>ttT	p.F1060F	BCORL1_uc010nrd.1_Silent_p.F962F	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1060					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ATGTGGTCTTCAATTTAGCCA	0.617000														14			22		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21965021	21965021	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21965021G>A	uc001rfh.3	-	33	4193	c.4173C>T	c.(4171-4173)atC>atT	p.I1391I	ABCC9_uc001rfi.1_Silent_p.I1391I	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1391	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCTGCAGAATGATTGAAAGTC	0.383000														112			11		0	0	1	0	0
LYZL4	131375	broad.mit.edu	37	3	42445550	42445550	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42445550C>T	uc003cle.3	-	3	608	c.359G>A	c.(358-360)gGg>gAg	p.G120E		NM_144634	NP_653235	Q96KX0	LYZL4_HUMAN	Homo sapiens lysozyme-like 4 (LYZL4), mRNA.	120					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.G120V(2)		central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TGCTCCCATCCCTTCTTTTCC	0.383000														47			17		0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27948152	27948152	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27948152C>T	uc001boj.3	-	2	492	c.346G>A	c.(346-348)Gag>Aag	p.E116K	FGR_uc001bok.3_Missense_Mutation_p.E116K|FGR_uc001bol.3_Missense_Mutation_p.E116K|FGR_uc001bom.3_Missense_Mutation_p.E116K	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	116	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GACCGAGCCTCCCACCAGTCA	0.592000														70			27		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113388767	113388767	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113388767C>T	uc001tug.3	+	6	1731	c.1644C>T	c.(1642-1644)gcC>gcT	p.A548A		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	548	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGCTGCCTGCCTTCGATGCTG	0.597000														45			6		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57383352	57383352	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57383352C>T	uc001cyo.2	+	10	1850	c.1718C>T	c.(1717-1719)tCg>tTg	p.S573L		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	573	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.S573S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGAGGGGCCTCGTGTCCAGGG	0.582000														55			21		0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382208	41382208	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41382208C>T	uc003jmm.1	-	1	634	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	178	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AAACTAACTTCCTGGGCAAAA	0.448000														180			17		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28409123	28409123	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:28409123C>T	uc001iua.1	-	12	1291	c.887_splice	c.e12+1	p.R296_splice	MPP7_uc009xkz.1_Splice_Site|MPP7_uc001iub.1_Splice_Site_p.R296_splice|MPP7_uc009xla.2_Splice_Site_p.R296_splice|MPP7_uc010qdv.1_Splice_Site	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	296	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AGCAGCTCACCTTTCCTGGAA	0.443000														65			15		0	0	1	0	0
SHROOM1	134549	broad.mit.edu	37	5	132161206	132161206	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:132161206G>A	uc003kxx.3	-	3	1432	c.627C>T	c.(625-627)gcC>gcT	p.A209A	SHROOM1_uc003kxy.2_Silent_p.A209A	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	209	ASD1.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCCCGGCCGGCAGTTCCTG	0.771000														5			6		0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130911970	130911970	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:130911970G>A	uc002tqq.2	-	15	2805	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	SMPD4_uc002tqo.2_Silent_p.F84F|SMPD4_uc002tqp.2_Silent_p.F291F|SMPD4_uc010yzy.2_Silent_p.F301F|SMPD4_uc010yzz.2_Silent_p.F216F|SMPD4_uc002tqs.2_Silent_p.F420F|SMPD4_uc002tqr.2_Silent_p.F523F|SMPD4_uc010zaa.2_Silent_p.F410F|SMPD4_uc010zab.2_Silent_p.F450F|SMPD4_uc002tqt.2_Silent_p.F401F|SMPD4_uc010zac.2_Silent_p.F293F|SMPD4_uc010zad.2_Silent_p.F188F	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	513					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AGGGTGACAGGAAGCTCCCAG	0.607000														11			6		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763148	92763148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92763148C>T	uc003umh.1	-	4	3353	c.2137G>A	c.(2137-2139)Gac>Aac	p.D713N	SAMD9L_uc003umj.1_Missense_Mutation_p.D713N|SAMD9L_uc003umi.1_Missense_Mutation_p.D713N|SAMD9L_uc010lfb.1_Missense_Mutation_p.D713N|SAMD9L_uc003umk.1_Missense_Mutation_p.D713N|SAMD9L_uc010lfc.1_Missense_Mutation_p.D713N|SAMD9L_uc010lfd.1_Missense_Mutation_p.D713N|SAMD9L_uc022ahh.1_Missense_Mutation_p.D713N	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	713										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCATAACTGTCCCTTTTAACA	0.343000														72			43		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102036332	102036332	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:102036332G>A	uc001tii.3	+	8	866	c.726G>A	c.(724-726)aaG>aaA	p.K242K	MYBPC1_uc001tif.2_Silent_p.K255K|MYBPC1_uc001tig.3_Silent_p.K267K|MYBPC1_uc010svr.2_Silent_p.K242K|MYBPC1_uc010svs.2_Silent_p.K242K|MYBPC1_uc001tij.3_Silent_p.K242K|MYBPC1_uc010svt.2_Silent_p.K230K|MYBPC1_uc010svu.2_Silent_p.K223K|MYBPC1_uc001tik.3_Silent_p.K216K|MYBPC1_uc001tih.3_Silent_p.K267K|MYBPC1_uc010svq.2_Silent_p.K229K	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	242					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AGCGACTCAAGCGCATGCGCA	0.617000														16			7		0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110447439	110447439	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:110447439C>T	uc003hzk.3	+	16	2904	c.2849C>T	c.(2848-2850)tCc>tTc	p.S950F	SEC24B_uc003hzl.3_Missense_Mutation_p.S915F|SEC24B_uc011cfp.2_Missense_Mutation_p.S980F|SEC24B_uc011cfq.2_Missense_Mutation_p.S949F|SEC24B_uc011cfr.2_Missense_Mutation_p.S914F	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	950					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GATTTGTTATCCCTTGCCAAC	0.348000														88			39		0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154562857	154562857	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154562857G>A	uc001ffh.3	-	6	2541	c.2299C>T	c.(2299-2301)Cgc>Tgc	p.R767C	ADAR_uc021pag.1_Missense_Mutation_p.R472C|ADAR_uc001ffj.3_Missense_Mutation_p.R748C|ADAR_uc001ffi.3_Missense_Mutation_p.R767C|ADAR_uc001ffk.3_Missense_Mutation_p.R472C	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	767	DRBM 3.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	p.R767L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GGGAACCAGCGACCCCCAACT	0.522000														74			27		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431416	140431416	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140431416G>A	uc003lik.1	+	0	438	c.361G>A	c.(361-363)Gtc>Atc	p.V121I		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	121	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGGCCGAGGTCAGGGTATT	0.517000														57			18		0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945863	55945863	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55945863C>T	uc010spp.2	+	0	853	c.853C>T	c.(853-855)Ccc>Tcc	p.P285S		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CTTACTGAATCCCTTCATATA	0.348000														64			22		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10906962	10906962	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:10906962C>T	uc002yip.1	-	23	1967	c.1599G>A	c.(1597-1599)gtG>gtA	p.V533V	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.V515V|TPTE_uc002yir.1_Silent_p.V495V|TPTE_uc010gkv.1_Silent_p.V395V	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	533	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D533N(1)|p.S532S(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)		AAAGTATCTCCACGGCAAAAT	0.353000														82			7		0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74477528	74477528	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:74477528G>A	uc003hhd.1	-	1	204	c.81C>T	c.(79-81)ctC>ctT	p.L27L	RASSF6_uc003hhc.1_5'UTR|RASSF6_uc010iik.1_5'UTR|RASSF6_uc010iil.1_Intron	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	27					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CCTCCTTTTTGAGATGGTCTG	0.333000														103			45		0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88813623	88813623	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:88813623C>T	uc010iko.1	+	1	567	c.567C>T	c.(565-567)ggC>ggT	p.G189G						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		AGTTCATAGGCTATCCCATCA	0.418000														82			31		0	0	1	0	0
CLDN10	9071	broad.mit.edu	37	13	96205054	96205054	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:96205054C>T	uc001vmh.2	+	0	108	c.47C>T	c.(46-48)tCa>tTa	p.S16L	CLDN10_uc001vmg.2_Intron|CLDN10_uc010tii.1_Intron	NM_006984	NP_008915	P78369	CLD10_HUMAN	Homo sapiens claudin 10 (CLDN10), transcript variant b, mRNA.	16					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GTCTCCATCTCAGGCTGGGTA	0.652000														33			12		0	0	1	0	0
C1orf216	127703	broad.mit.edu	37	1	36181917	36181917	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:36181917G>A	uc001bzh.1	-	1	494	c.6C>T	c.(4-6)ttC>ttT	p.F2F	C1orf216_uc021oli.1_Silent_p.F2F	NM_152374	NP_689587	Q8TAB5	CA216_HUMAN	Homo sapiens chromosome 1 open reading frame 216 (C1orf216), mRNA.	2										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GCTGGATGGCGAACATCTAGC	0.582000											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			8		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34109088	34109088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34109088C>T	uc001zhi.3	+	74	10598	c.10528C>T	c.(10528-10530)Cat>Tat	p.H3510Y	RYR3_uc010bar.3_Missense_Mutation_p.H3505Y	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3510					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTCTTCCTCCATGGCTATCA	0.463000														17			7		0	0	1	0	0
TMEM74B	55321	broad.mit.edu	37	20	1162161	1162161	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:1162161C>A	uc002weq.1	-	1	774	c.102G>T	c.(100-102)aaG>aaT	p.K34N	TMEM74B_uc010gaa.1_Missense_Mutation_p.K34N	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	Homo sapiens transmembrane protein 74B (TMEM74B), mRNA.	34						integral to membrane	protein binding										TGCTCAGTGTCTTCAGTTCCA	0.587000														52			4		0.00024832	0.000248635	1	1	0
CAD	790	broad.mit.edu	37	2	27465619	27465619	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27465619C>T	uc002rji.3	+	40	6516	c.6354C>T	c.(6352-6354)ttC>ttT	p.F2118F	CAD_uc010eyw.3_Silent_p.F2055F	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	2118	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGCGGGCCTTCGTGGCCTCCC	0.657000														45			24		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51914542	51914542	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51914542C>T	uc002pwo.3	-	10	2127	c.1905G>A	c.(1903-1905)aaG>aaA	p.K635K	SIGLEC10_uc002pwp.3_Silent_p.K577K|SIGLEC10_uc021uyl.1_Silent_p.K457K|SIGLEC10_uc002pwq.3_Silent_p.K482K|SIGLEC10_uc010ycz.2_Silent_p.K492K|SIGLEC10_uc002pws.2_Silent_p.K392K|SIGLEC10_uc002pwr.3_Silent_p.K540K|SIGLEC10_uc010ycy.2_Silent_p.K450K|SIGLEC10_uc010eow.3_Silent_p.K352K	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	635					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TTTTCTGGTTCTTCTTTGATT	0.532000														133			51		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16272764	16272764	+	Missense_Mutation	SNP	C	T	T	rs57794451	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:16272764C>T	uc002den.4	-	17	2343	c.2306G>A	c.(2305-2307)aGa>aAa	p.R769K	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	769	ABC transporter 1.				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)		AGCTGCCTTTCTGTATACAGC	0.602000														48			17		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156742096	156742096	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156742096C>T	uc021ygm.1	+	12	1485	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	CYFIP2_uc011ddn.2_Silent_p.F424F|CYFIP2_uc011ddo.2_Silent_p.F254F|CYFIP2_uc021ygn.1_Silent_p.F449F|CYFIP2_uc021ygo.1_Silent_p.F449F|CYFIP2_uc003lwt.3_Silent_p.F328F|CYFIP2_uc011ddp.2_Silent_p.F184F	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	450					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATTTGCCTTCGTTGAGGTAG	0.527000														21			8		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72955525	72955525	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:72955525C>T	uc003pga.3	+	10	2166	c.2089C>T	c.(2089-2091)Ccc>Tcc	p.P697S	RIMS1_uc011dyb.2_Missense_Mutation_p.P323S|RIMS1_uc003pgc.3_Missense_Mutation_p.P323S|RIMS1_uc010kaq.3_Missense_Mutation_p.P171S|RIMS1_uc011dyc.2_Missense_Mutation_p.P171S|RIMS1_uc010kar.3_Missense_Mutation_p.P90S|RIMS1_uc011dyd.2_Missense_Mutation_p.P156S|RIMS1_uc003pgb.4_Missense_Mutation_p.P323S|RIMS1_uc010kas.1_Missense_Mutation_p.P156S	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	697					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TAGTGACATTCCCCGGATTCC	0.393000														45			22		0	0	1	0	0
DTNB	1838	broad.mit.edu	37	2	25678335	25678335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:25678335G>A	uc002rgh.3	-	10	1358	c.1108C>T	c.(1108-1110)Cac>Tac	p.H370Y	DTNB_uc002rgg.3_Intron|DTNB_uc010yko.2_Missense_Mutation_p.H313Y|DTNB_uc002rgi.3_Missense_Mutation_p.H370Y|DTNB_uc002rgj.3_Missense_Mutation_p.H370Y|DTNB_uc002rgk.3_Intron|DTNB_uc002rgl.3_Intron|DTNB_uc002rgq.3_Missense_Mutation_p.H370Y|DTNB_uc002rgn.3_Missense_Mutation_p.H166Y|DTNB_uc010ykp.2_Missense_Mutation_p.H166Y|DTNB_uc002rgr.1_Missense_Mutation_p.H359Y|DTNB_uc010ykq.1_Missense_Mutation_p.H223Y	NM_021907	NP_068707	O60941	DTNB_HUMAN	Homo sapiens dystrobrevin, beta (DTNB), transcript variant 1, mRNA.	370						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGCCAAGTGACTGGGTATA	0.527000														11			6		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15831419	15831419	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:15831419C>T	uc002ddx.3	-	25	3308	c.3201G>A	c.(3199-3201)ctG>ctA	p.L1067L	MYH11_uc002ddv.3_Silent_p.L1067L|MYH11_uc002ddw.3_Silent_p.L1060L|MYH11_uc002ddy.3_Silent_p.L1060L|MYH11_uc010bvg.3_Silent_p.L892L	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1060					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.D1066N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CATCACCCTCCAGCTTCCGTT	0.587000			T	CBFB	AML									75			22		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604082	54604082	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:54604082C>T	uc003dhf.3	+	7	887	c.839C>T	c.(838-840)tCa>tTa	p.S280L	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.S186L|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.S14L	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	280	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CAAACAGTCTCATCCATTTTG	0.448000														117			54		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323399	79323399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:79323399G>A	uc010mpk.3	-	7	3915	c.3791C>T	c.(3790-3792)tCc>tTc	p.S1264F	PRUNE2_uc022bih.1_Missense_Mutation_p.S1086F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1264					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGCATCTGGGGAATGAGTGTC	0.478000														29			16		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118596651	118596651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:118596651G>A	uc001ehk.2	-	19	2856	c.2788C>T	c.(2788-2790)Cct>Tct	p.P930S	SPAG17_uc021oss.1_Missense_Mutation_p.P80S	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	930						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AAAATGAAAGGAATCTTTTCC	0.313000														36			6		0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3783164	3783164	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3783164C>T	uc002lyt.3	-	6	1036	c.636G>A	c.(634-636)cgG>cgA	p.R212R	MATK_uc002lyv.3_Silent_p.R213R|MATK_uc002lyu.3_Silent_p.R171R|MATK_uc010dtq.3_Silent_p.R212R	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	212					cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCGTGTTTCCGCTTTGGTC	0.652000														80			19		0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954498	12954498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12954498G>A	uc001auo.3	-	2	858	c.785C>T	c.(784-786)cCa>cTa	p.P262L		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	262										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGAGGAATGGAGAGTCCAA	0.473000														286			23		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65456139	65456139	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:65456139C>T	uc003dmn.3	-	4	1304	c.778G>A	c.(778-780)Gag>Aag	p.E260K	MAGI1_uc003dmm.3_Missense_Mutation_p.E260K|MAGI1_uc003dmo.3_Missense_Mutation_p.E260K|MAGI1_uc003dmp.3_Missense_Mutation_p.E260K|MAGI1_uc010hny.2_Missense_Mutation_p.E145K|MAGI1_uc021xac.1_Missense_Mutation_p.E261K|MAGI1_uc003dmr.3_Missense_Mutation_p.E261K	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	260	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AGAGTGTGCTCCTCTTGTTCA	0.458000														81			14		0	0	1	0	0
GNA15	2769	broad.mit.edu	37	19	3151807	3151807	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3151807C>T	uc002lxf.2	+	3	846	c.588C>T	c.(586-588)tgC>tgT	p.C196C		NM_002068	NP_002059	P30679	GNA15_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA.	196					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		ACGAGTACTGCTTCTCCGTGC	0.647000														110			9		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38537884	38537884	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:38537884C>T	uc002yvz.3	+	32	3473	c.3368C>T	c.(3367-3369)cCc>cTc	p.P1123L	TTC3_uc011aee.1_Missense_Mutation_p.P813L|TTC3_uc002ywa.3_Missense_Mutation_p.P1123L|TTC3_uc002ywb.3_Missense_Mutation_p.P1123L|TTC3_uc010gnf.3_Missense_Mutation_p.P888L|TTC3_uc002ywc.3_Missense_Mutation_p.P813L|TTC3_uc002ywd.1_Missense_Mutation_p.P187L	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1123					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GAACATGGTCCCTTGGACATG	0.338000														170			79		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10387188	10387188	+	Silent	SNP	G	A	A	rs111706887		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10387188G>A	uc003bvt.3	-	17	3022	c.2583C>T	c.(2581-2583)atC>atT	p.I861I	ATP2B2_uc003bvv.3_Silent_p.I816I|ATP2B2_uc003bvw.3_Silent_p.I816I|ATP2B2_uc010hdo.3_Silent_p.I566I	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	861					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTGCCTTGACGATGCTGCTGA	0.577000														60			27		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35823538	35823538	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35823538G>A	uc010edt.3	+	2	207	c.123G>A	c.(121-123)tgG>tgA	p.W41*	CD22_uc010edu.3_Nonsense_Mutation_p.W41*|CD22_uc010edv.3_Nonsense_Mutation_p.W41*|CD22_uc002nzb.4_Nonsense_Mutation_p.W41*|CD22_uc010xst.2_5'UTR	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	41	Ig-like V-type.				cell adhesion		protein binding|sugar binding	p.W41*(2)|p.V40V(1)		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)	CCTGCGTCTGGATCCCCTGCA	0.502000														81			30		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768165	117768165	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117768165C>T	uc001twn.2	-	1	1421	c.710G>A	c.(709-711)gGa>gAa	p.G237E	NOS1_uc001twm.2_Missense_Mutation_p.G237E	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	237	PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CACCTGGATTCCCATATCTTT	0.557000														81			23		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119115959	119115959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:119115959C>T	uc004bjn.3	+	16	4615	c.4234C>T	c.(4234-4236)Cct>Tct	p.P1412S	PAPPA_uc011lxq.2_Missense_Mutation_p.P787S	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1412	Sushi 3.				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						AGCTTGTGTTCCTGTGACCTG	0.507000														76			44		0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46326873	46326873	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46326873C>T	uc002zgd.2	-	2	329	c.285G>A	c.(283-285)caG>caA	p.Q95Q	ITGB2_uc002zgf.3_Silent_p.Q95Q|ITGB2_uc011afl.1_Silent_p.Q17Q|ITGB2_uc010gpw.2_Silent_p.Q95Q|ITGB2_uc002zgg.2_Silent_p.Q95Q	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	95					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	ACAGCTGCTTCTGGCCCCCAT	0.617000														69			28		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69329379	69329379	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:69329379G>A	uc002ars.2	+	7	1241	c.1200G>A	c.(1198-1200)tgG>tgA	p.W400*	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Nonsense_Mutation_p.W354*|NOX5_uc002arp.2_Nonsense_Mutation_p.W382*|NOX5_uc010bid.2_Nonsense_Mutation_p.W365*|NOX5_uc010bie.2_Nonsense_Mutation_p.W200*|NOX5_uc002arr.2_Nonsense_Mutation_p.W372*|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	400	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGTTCTATTGGACTCACCTGT	0.557000														151			112		0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74328431	74328431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74328431G>A	uc010wtb.1	-	3	288	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	PRPSAP1_uc010wta.1_Missense_Mutation_p.P126S	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	97					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GGGAAGTAGGGGATGACCCCA	0.517000														108			44		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27444208	27444208	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27444208C>T	uc002rji.3	+	2	507	c.345C>T	c.(343-345)ggC>ggT	p.G115G	CAD_uc010eyw.3_Silent_p.G115G	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	115	GATase (Glutamine amidotransferase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCATCCCTGGCTTGCAAGGTA	0.567000														19			10		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179736188	179736188	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179736188C>T	uc002une.2	-	13	2289	c.2171G>A	c.(2170-2172)cGa>cAa	p.R724Q	CCDC141_uc002unf.1_Missense_Mutation_p.R203Q	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	149							protein binding	p.P723H(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCATTTTTGTCGTAGATCTAA	0.393000														157			74		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113933979	113933979	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:113933979G>A	uc003ynu.3	-	10	1668	c.1509_splice	c.e10-1	p.S503_splice	CSMD3_uc003ynt.3_Splice_Site_p.S463_splice|CSMD3_uc011lhx.2_Splice_Site_p.S399_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	503	Sushi 2.					integral to membrane|plasma membrane				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						GTTGATCCAAGGCTAAAGTTA	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				57			19		0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	362409	362409	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:362409C>T	uc002lol.3	-	7	974	c.931G>A	c.(931-933)Gac>Aac	p.D311N	THEG_uc002lom.3_Missense_Mutation_p.D287N	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	311					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ACGCACTTGTCCGACTGAGCT	0.592000														83			38		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179571376	179571376	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179571376C>T	uc021vsy.1	-	98	25718	c.25493G>A	c.(25492-25494)gGa>gAa	p.G8498E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G5159E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9425	Ig-like 67.						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)			AACACGACCTCCTTGGTTCAG	0.443000														131			64		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220353814	220353814	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220353814G>A	uc010fwg.3	+	34	8188	c.8188G>A	c.(8188-8190)Gac>Aac	p.D2730N		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2730	Fibronectin type-III 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGGCATCCCCGACTGTTACTA	0.632000														71			43		0	0	1	0	0
ZNF326	284695	broad.mit.edu	37	1	90493234	90493234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:90493234C>T	uc001dnq.2	+	11	1862	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S	ZNF326_uc009wda.1_Missense_Mutation_p.P486S|ZNF326_uc001dnr.2_Missense_Mutation_p.P369S	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	Homo sapiens zinc finger protein 326 (ZNF326), transcript variant 1, mRNA.	575	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TGCTGACTTCCCTGTTGAGCA	0.398000														51			26		0	0	1	0	0
C8orf86	389649	broad.mit.edu	37	8	38370085	38370085	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:38370085G>A	uc003xlx.1	-	2	517	c.492C>T	c.(490-492)ctC>ctT	p.L164L		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	Homo sapiens chromosome 8 open reading frame 86 (C8orf86), mRNA.	164										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						gaggactgcggaggcttgaga	0.537000														76			7		0	0	1	0	0
TMEM65	157378	broad.mit.edu	37	8	125332403	125332403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:125332403G>A	uc010mdl.3	-	5	1087	c.545C>T	c.(544-546)tCc>tTc	p.S182F		NM_194291	NP_919267	Q6PI78	TMM65_HUMAN	Homo sapiens transmembrane protein 65 (TMEM65), mRNA.	182						integral to membrane				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCCTAACCTGGAAGCCAATGC	0.368000														65			47		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675553	62675554	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62675553_62675554GG>AA	uc021ooc.1	+	4	1542_1543	c.1107_1108GG>AA	c.(1105-1110)gaggag>gaAAag	p.E370K	L1TD1_uc001dae.4_Missense_Mutation_p.E370K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	370	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CTAAGCCAGAGGAGATGAAAAA	0.436000														139			30		0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70787583	70787583	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:70787583C>T	uc004eaa.2	+	19	3061	c.2823C>T	c.(2821-2823)acC>acT	p.T941T	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Silent_p.T931T|OGT_uc004eac.3_Silent_p.T802T|OGT_uc004ead.3_Silent_p.T560T	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	941					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GGGCAGGGACCCCCATGGTGA	0.507000														10			13		0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683229	140683229	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140683229G>A	uc003ljf.3	-	0	384	c.204C>T	c.(202-204)ggC>ggT	p.G68G		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	68					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TAAGTGCCGGGCCGGTGCCCT	0.577000														90			29		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368424	86368424	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:86368424C>T	uc001vll.1	-	1	2679	c.2220G>A	c.(2218-2220)acG>acA	p.T740T	SLITRK6_uc021rla.1_Silent_p.T740T	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	740						integral to membrane		p.T740K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTGATTGGTTCGTGGTTTTGT	0.368000														302			85		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107791	55107791	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55107791C>T	uc002qgh.1	+	6	1278	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	LILRA1_uc010yfg.1_Missense_Mutation_p.P364S|LILRA1_uc010yfh.2_Missense_Mutation_p.P366S	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	366	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGCTGATGCCCCCCTCCGTCT	0.592000														110			51		0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55077389	55077389	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55077389G>A	uc001cxn.3	-	5	962	c.830C>T	c.(829-831)tCg>tTg	p.S277L	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	277						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CATGGGGTCCGAGGCAGCCTG	0.592000														98			29		0	0	1	0	0
PIP5K1P1	206426	broad.mit.edu	37	6	7987514	7987514	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7987514G>A	uc003mxx.4	+	0	1180	c.745G>A	c.(745-747)Ggc>Agc	p.G249S	TXNDC5_uc003mxw.3_Intron					Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 (PIP5K1P1), non-coding RNA.																		TGACCTCAAAGGCTCAACCTA	0.438000														66			10		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833793	61833794	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61833793_61833794GG>AA	uc001jky.3	-	36	7183_7184	c.6845_6846CC>TT	c.(6844-6846)tcc>tTT	p.S2282F	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.	2282					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						GATCCCGCCCGGACTGAAAGGC	0.495000														189			14		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825865	146825865	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:146825865C>T	uc003weu.2	+	6	1536	c.1020C>T	c.(1018-1020)atC>atT	p.I340I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	340	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGAAAGCATCAACTACAATG	0.403000										HNSCC(39;0.1)				143			48		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31341692	31341692	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31341692G>A	uc002ebr.3	+	26	3225	c.3127G>A	c.(3127-3129)Gaa>Aaa	p.E1043K	ITGAM_uc002ebq.3_Missense_Mutation_p.E1042K|ITGAM_uc010can.3_Missense_Mutation_p.E448K	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	1042					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.F1043L(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CATCCAGGAAGAATTCAATGC	0.582000														69			27		0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14479246	14479246	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:14479246G>A	uc010xai.2	-	2		c.318C>T								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		ACAGGAGCACGAAGCGCAGCA	0.612000														21			9		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068633	103068633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103068633G>A	uc002tbx.3	+	11	2276	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	IL18RAP_uc010fiz.3_Missense_Mutation_p.E456K	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	598					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CCAGCCTAAGGAATGGTGAAA	0.517000														77			40		0	0	1	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77310494	77310494	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:77310494G>A	uc002bcf.2	+	1	492	c.42G>A	c.(40-42)agG>agA	p.R14R	PSTPIP1_uc010bkt.1_Non-coding_Transcript|PSTPIP1_uc010umo.1_5'UTR|PSTPIP1_uc010bku.1_Silent_p.R5R|PSTPIP1_uc010bkv.1_Non-coding_Transcript|PSTPIP1_uc010bkw.1_Silent_p.R14R	NM_003978	NP_003969	O43586	PPIP1_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1), mRNA.	14	FCH.				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CACAGTGCAGGGACTTCACAG	0.607000														6			3		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012875	29012875	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29012875G>A	uc003nlw.2	-	0	78	c.78C>T	c.(76-78)atC>atT	p.I26I	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTCCTGACAGGATCATCTCCA	0.403000														110			44		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170062088	170062088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170062088C>T	uc002ues.3	-	40	7829	c.7616G>A	c.(7615-7617)gGa>gAa	p.G2539E		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2539					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCGGAAGTTTCCTCCCAATGT	0.493000														95			32		0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84070370	84070370	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84070370G>A	uc002fhg.1	-	1	325	c.325C>T	c.(325-327)Ctc>Ttc	p.L109F		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	109					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGTTGAGGAGGAAGCAGGCC	0.632000														37			10		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50959005	50959005	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50959005C>T	uc009xog.3	-	5	891	c.857G>A	c.(856-858)tGg>tAg	p.W286*	OGDHL_uc001jie.3_Nonsense_Mutation_p.W259*|OGDHL_uc010qgt.2_Nonsense_Mutation_p.W202*|OGDHL_uc010qgu.2_Nonsense_Mutation_p.W50*|OGDHL_uc009xoh.2_Nonsense_Mutation_p.W50*	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	259					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CTCTGAGGACCATTTCCGGGC	0.562000														17			5		0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573671	136573671	+	Silent	SNP	G	A	A	rs142918857	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:136573671G>A	uc003erf.4	+	1	583	c.369G>A	c.(367-369)agG>agA	p.R123R	SLC35G2_uc003erg.4_Silent_p.R123R|SLC35G2_uc010hub.3_Silent_p.R123R|SLC35G2_uc021xem.1_Silent_p.R123R	NM_001097600	NP_079522	Q8TBE7	TMM22_HUMAN	Homo sapiens transmembrane protein 22 (TMEM22), transcript variant 3, mRNA.	123	DUF6 1.					Golgi apparatus|integral to membrane											TTATCACTAGGCTTGTTTCTG	0.393000														184			63		0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	55990881	55990881	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55990881C>T	uc003tra.2	+	4	921	c.114C>T	c.(112-114)gcC>gcT	p.A38A	ZNF713_uc003trc.1_Silent_p.A25A	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGGATGTGGCCGTGGACTTCA	0.517000														58			34		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781494	128781494	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:128781494G>A	uc001qet.3	+	1	640	c.326G>A	c.(325-327)tGg>tAg	p.W109*	KCNJ5_uc009zck.3_Nonsense_Mutation_p.W109*|KCNJ5_uc001qew.3_Nonsense_Mutation_p.W109*	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	109					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TTCATTTGGTGGCTCATTGCT	0.527000														71			32		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116931269	116931269	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116931269C>T	uc011lxl.2	+	2	1434	c.1434C>T	c.(1432-1434)acC>acT	p.T478T	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Silent_p.T328T	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	478	Pro-rich.				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						GCACCAGCACCCACAAACCTC	0.562000														206			48		0	0	1	0	0
GALNT7	51809	broad.mit.edu	37	4	174169415	174169415	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:174169415C>T	uc003isz.4	+	1	494	c.411C>T	c.(409-411)ccC>ccT	p.P137P		NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.	137					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		ACTTTGAACCCAAAGAACCTG	0.483000														95			34		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130789654	130789654	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:130789654G>A	uc003ysr.3	-	1	1062	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	60						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CATTGAGGGAGAATTCAACTG	0.423000														52			22		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196918671	196918671	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:196918671G>A	uc001gtq.1	+	1	222	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	49	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TCCTACAGGGGAAGTTTTCTA	0.363000														58			27		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228153893	228153893	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228153893G>A	uc002vom.2	+	34	3071	c.2909G>A	c.(2908-2910)gGa>gAa	p.G970E	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	970	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGTGAGAAAGGAAACAGAGGC	0.483000														35			11		0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154461646	154461646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154461646C>T	uc001ffb.3	-	2	929	c.905G>A	c.(904-906)aGg>aAg	p.R302K	SHE_uc001ffc.3_Non-coding_Transcript	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	302										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCCCTCTGCCCTGGGCCCCCC	0.647000														55			23		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29675075	29675075	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29675075G>A	uc001usl.4	+	2	2700	c.2642G>A	c.(2641-2643)aGt>aAt	p.S881N		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	871	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCCGGGGACAGTGCACAGCCA	0.642000														10			6		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119966478	119966478	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:119966478C>T	uc001txe.3	+	11	1753	c.1288C>T	c.(1288-1290)Caa>Taa	p.Q430*	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	430										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CTCAAATTTTCAAAAGGACAT	0.398000														112			52		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397710	111397710	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:111397710G>A	uc003iab.4	+	0	482	c.140G>A	c.(139-141)gGg>gAg	p.G47E		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	47					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GACTCCAGCGGGGACGGCGGG	0.632000														131			46		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67066476	67066476	+	Silent	SNP	G	A	A	rs147341587		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:67066476G>A	uc003xvv.3	+	8	1657	c.1431G>A	c.(1429-1431)tcG>tcA	p.S477S	TRIM55_uc003xvu.3_Silent_p.S477S|TRIM55_uc003xvw.3_Intron|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	477						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CTGAGGATTCGAATGTACGGA	0.567000														42			29		0	0	1	0	0
CYTH1	9267	broad.mit.edu	37	17	76705812	76705812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76705812G>A	uc021ueg.1	-	1	96	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	CYTH1_uc002jvw.3_Missense_Mutation_p.P9S|CYTH1_uc010wtw.1_5'UTR|CYTH1_uc010wtx.1_5'UTR	NM_004762	NP_004753	Q15438	CYH1_HUMAN	Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA.	9					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AGGTCACTGGGAACTACAAAA	0.468000														71			23		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1248754	1248754	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1248754C>T	uc002cks.3	+	5	1031	c.783C>T	c.(781-783)ttC>ttT	p.F261F	CACNA1H_uc002ckt.3_Silent_p.F261F	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	261					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)	ACCGCTGCTTCCTGGACAGTG	0.632000														22			5		0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15561637	15561637	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:15561637C>T	uc002yjm.3	-	1	223	c.213G>A	c.(211-213)agG>agA	p.R71R	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Silent_p.R50R|LIPI_uc021whh.1_Silent_p.R50R|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Silent_p.R50R|LIPI_uc021whe.1_Silent_p.R50R|LIPI_uc021whf.1_Silent_p.R50R	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	50					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTAGGTTGTTCCTTGTATACA	0.353000														101			28		0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	102378965	102378965	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:102378965C>T	uc001vpf.2	-	3	715	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	FGF14_uc001vpe.2_Missense_Mutation_p.E202K	NM_175929	NP_787125	Q92915	FGF14_HUMAN	Homo sapiens fibroblast growth factor 14 (FGF14), transcript variant 2, mRNA.	202					JNK cascade|cell death|cell-cell signaling|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TACTCACCTTCCAATGGCTTG	0.358000														121			12		0	0	1	0	0
KATNAL1	84056	broad.mit.edu	37	13	30854256	30854256	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:30854256T>A	uc001uss.3	-	2	368	c.267A>T	c.(265-267)caA>caT	p.Q89H	KATNAL1_uc001ust.3_Missense_Mutation_p.Q89H	NM_001014380	NP_115492	Q9BW62	KATL1_HUMAN	Homo sapiens katanin p60 subunit A-like 1 (KATNAL1), transcript variant 2, mRNA.	89						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		ATGGTTCATCTTGACAGGACA	0.393000														33			15		0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73179425	73179425	+	Missense_Mutation	SNP	G	A	A	rs150168072		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:73179425G>A	uc003hgk.2	-	11	1751	c.1714C>T	c.(1714-1716)Cgt>Tgt	p.R572C	ADAMTS3_uc003hgl.3_5'Flank	NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	572	TSP type-1 1.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTCTGAAACGAACACCAGTT	0.393000														43			13		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23892849	23892849	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23892849G>A	uc001wjx.3	-	23	3112	c.3006C>T	c.(3004-3006)gcC>gcT	p.A1002A		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1002					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A1002T(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTGTTGGTGGGCCTCTTGCA	0.537000														169			64		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681286	100681286	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100681286G>A	uc003uxp.1	+	2	6642	c.6589G>A	c.(6589-6591)Gaa>Aaa	p.E2197K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2197	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T2196T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAATTCTACTGAAGCCCGTTC	0.498000														508			205		0	0	1	0	0
RNASE10	338879	broad.mit.edu	37	14	20979118	20979118	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20979118G>A	uc001vxp.2	+	1	976	c.572G>A	c.(571-573)gGg>gAg	p.G191E	RNASE10_uc010tlj.2_Missense_Mutation_p.G163E	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Homo sapiens ribonuclease, RNase A family, 10 (non-active) (RNASE10), mRNA.	163						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		GAGCTCAAGGGGGGAAAATGT	0.473000														48			20		0	0	1	0	0
ALG9	79796	broad.mit.edu	37	11	111708198	111708198	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:111708198G>A	uc010rwn.2	-	10	1405	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	ALG9_uc001ply.3_Missense_Mutation_p.P311S|ALG9_uc001plz.3_Missense_Mutation_p.P318S|ALG9_uc021qql.1_Missense_Mutation_p.P311S|ALG9_uc021qqm.1_Missense_Mutation_p.P318S|ALG9_uc010rwo.2_Missense_Mutation_p.P310S|ALG9_uc009yyh.1_Missense_Mutation_p.P377S	NM_001077692	NP_001071160	Q9H6U8	ALG9_HUMAN	Homo sapiens asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) (ALG9), transcript variant 4, mRNA.	482					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	p.R436L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		TACTTGTCAGGAAGAAGGAAG	0.408000														52			24		0	0	1	0	0
ZNF619	285267	broad.mit.edu	37	3	40529675	40529675	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:40529675C>T	uc011azb.2	+	5	2101	c.1794C>T	c.(1792-1794)ctC>ctT	p.L598L	ZNF619_uc011aza.2_Silent_p.L500L|ZNF619_uc011azc.2_Silent_p.L558L|ZNF619_uc011azd.2_Silent_p.L514L|ZNF619_uc003ckj.3_Silent_p.L542L|ZNF619_uc021wwh.1_Silent_p.L549L	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA.	598					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TTCAGGATCTCGCTTTTCCTG	0.498000														78			98		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55145665	55145665	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55145665C>T	uc010ooe.1	+	12	2652	c.2328C>T	c.(2326-2328)tcC>tcT	p.S776S	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Silent_p.S344S|HEATR8_uc010ood.1_Silent_p.S294S|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Intron|HEATR8_uc001cxr.1_Intron|HEATR8_uc010oog.1_Silent_p.S776S|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_5'Flank	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	776						integral to membrane	binding	p.S776F(1)		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						TGGCTAGCTCCTTCATGACCG	0.607000														209			41		0	0	1	0	0
WNT8B	7479	broad.mit.edu	37	10	102240871	102240871	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:102240871G>A	uc001krb.3	+	3	472	c.358G>A	c.(358-360)Ggg>Agg	p.G120R		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8B (WNT8B), mRNA.	120					Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CTCCCGCAACGGGCAACTGGG	0.488000														53			30		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130290201	130290201	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130290201G>A	uc010htl.3	+	5	2972	c.2941G>A	c.(2941-2943)Gat>Aat	p.D981N		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	981	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AATATTTTCAGATGTGACAGC	0.433000														28			13		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167625888	167625888	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:167625888C>T	uc010jjd.3	+	15	2904	c.2904C>T	c.(2902-2904)tcC>tcT	p.S968S	ODZ2_uc003lzr.4_Silent_p.S745S|ODZ2_uc003lzt.4_Silent_p.S341S|ODZ2_uc010jje.3_Silent_p.S239S	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)		GAGGTGCTTCCTTGACTCTAC	0.547000														98			23		0	0	1	0	0
SIX2	10736	broad.mit.edu	37	2	45233467	45233467	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:45233467G>A	uc002ruo.3	-	1	1011	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L		NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	Homo sapiens SIX homeobox 2 (SIX2), mRNA.	240						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGGGACGGCAGCCCAGGGGGC	0.701000														79			27		0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4536769	4536769	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:4536769G>A	uc002fyh.3	-	8	1213	c.1188C>T	c.(1186-1188)acC>acT	p.T396T	ALOX15_uc010vsd.2_Silent_p.T357T|ALOX15_uc010vse.2_Silent_p.T418T	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	396	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	TAATTTCCAGGGTGTATCGCA	0.517000														27			32		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60754776	60754776	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:60754776C>T	uc002jad.3	+	11	2383	c.1981C>T	c.(1981-1983)Ccc>Tcc	p.P661S	MRC2_uc010ddq.1_Non-coding_Transcript	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	661					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGGGCCAGATCCCACGCCCAG	0.672000														18			7		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57732829	57732829	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:57732829G>A	uc002emi.3	+	2	360	c.271G>A	c.(271-273)Gag>Aag	p.E91K	CCDC135_uc002emj.3_Missense_Mutation_p.E91K|CCDC135_uc002emk.3_Missense_Mutation_p.E91K	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	91						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CACACCCAAGGAGGAACACCT	0.572000														166			51		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60695126	60695126	+	Missense_Mutation	SNP	G	A	A	rs144704995	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60695126G>A	uc001nqi.3	+	2	522	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	TMEM132A_uc001nqj.3_Missense_Mutation_p.R110Q|TMEM132A_uc001nqk.3_Missense_Mutation_p.R123Q|TMEM132A_uc001nql.1_Missense_Mutation_p.R123Q	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	110						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GTCCCCCCTCGAGTCACTGAG	0.602000														168			78		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	69281668	69281668	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:69281668G>A	uc009xpn.1	-	4	634	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	CTNNA3_uc001jmw.2_Nonsense_Mutation_p.Q171*|CTNNA3_uc001jmx.4_Nonsense_Mutation_p.Q171*|CTNNA3_uc009xpo.1_Nonsense_Mutation_p.Q31*|CTNNA3_uc001jna.2_Nonsense_Mutation_p.Q183*	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	171					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TAGGTTTTCTGGAGGTCAGAT	0.408000														88			36		0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641484	36641484	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36641484G>A	uc002xhl.3	-	2	944	c.735C>T	c.(733-735)ttC>ttT	p.F245F	TTI1_uc002xhm.3_Silent_p.F245F	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	245							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CAGCCATAATGAAGCTCACTG	0.433000														168			72		0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77984380	77984380	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:77984380G>A	uc001dhn.3	+	10	1616	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	AK5_uc001dho.3_Missense_Mutation_p.D401N	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	427					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ATTGATCAGAGACATTATGGA	0.468000														48			13		0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185310027	185310027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:185310027G>A	uc003iwf.4	-	8	1135	c.935C>T	c.(934-936)cCc>cTc	p.P312L		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	312					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GGAAGAAAGGGGGAGGTCTTG	0.587000														72			36		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80655837	80655837	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:80655837C>T	uc001szd.3	+	17	1957	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGTTCATGTCCCAGTGGTGGA	0.403000														62			47		0	0	1	0	0
C19orf75	284369	broad.mit.edu	37	19	51768752	51768752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51768752G>A	uc002pwb.1	+	2	534	c.153G>A	c.(151-153)atG>atA	p.M51I	C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	51						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						TGGATGGCATGGATGGCAGCC	0.572000														56			32		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153026646	153026646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:153026646C>T	uc011dcy.2	+	2	436	c.409C>T	c.(409-411)Cct>Tct	p.P137S	GRIA1_uc003lva.4_Missense_Mutation_p.P127S|GRIA1_uc003luy.4_Missense_Mutation_p.P127S|GRIA1_uc003luz.4_Missense_Mutation_p.P32S|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Missense_Mutation_p.P58S|GRIA1_uc011dcz.2_Missense_Mutation_p.P137S|GRIA1_uc010jia.1_Missense_Mutation_p.P107S	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	127					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCAGCTGCGCCCTGAACTGCA	0.512000														139			20		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168180991	168180991	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:168180991G>A	uc010jjg.3	-	16	2127	c.1707C>T	c.(1705-1707)atC>atT	p.I569I	SLIT3_uc003mab.3_Silent_p.I569I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	569					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACCTCCTTGATCTTATTGT	0.547000														11			8		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55110701	55110701	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55110701G>A	uc002qgh.1	+	8	1444	c.1262_splice	c.e8-1	p.G421_splice	LILRA1_uc010yfh.2_Splice_Site_p.G421_splice	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	421					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGATTCTCAGGAGCAGCTGAG	0.448000														47			15		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15063777	15063777	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15063777C>T	uc002naa.1	-	7	1469	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	SLC1A6_uc010dzu.1_Missense_Mutation_p.E410K|SLC1A6_uc010xod.1_Missense_Mutation_p.E424K	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	488					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GTGATGTCTTCCGTGGGCAAG	0.602000														116			52		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73485203	73485203	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73485203G>A	uc001jrx.4	+	28	3889	c.3499G>A	c.(3499-3501)Gag>Aag	p.E1167K	CDH23_uc001jrz.3_Missense_Mutation_p.E1167K|C10orf105_uc001jsb.2_Intron|CDH23_uc001jsc.1_Intron	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1169	Cadherin 11.				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						CCTGGACCGGGAGCGGAACTC	0.657000														32			10		0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63445416	63445416	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:63445416G>A	uc011mou.2	-	9	1330	c.1240C>T	c.(1240-1242)Ctc>Ttc	p.L414F	MTMR8_uc004dvq.2_Missense_Mutation_p.L30F|MTMR8_uc004dvr.2_Missense_Mutation_p.L39F	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	0	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GCTTGATTGAGAGCCTGCTTC	0.517000														15			4		0	0	1	0	0
CLDN14	23562	broad.mit.edu	37	21	37833570	37833570	+	Missense_Mutation	SNP	C	T	T	rs146755542	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:37833570C>T	uc021wja.1	-	0	424	c.424G>A	c.(424-426)Gac>Aac	p.D142N	CLDN14_uc002yvn.1_Missense_Mutation_p.D142N|CLDN14_uc002yvo.1_Missense_Mutation_p.D142N|CLDN14_uc002yvk.1_Missense_Mutation_p.D142N|CLDN14_uc002yvl.1_Missense_Mutation_p.D142N|CLDN14_uc002yvm.1_Missense_Mutation_p.D142N	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	142					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TGCACCACGTCGTTGGTGGTC	0.627000														83			27		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111409813	111409813	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:111409813G>A	uc003iab.4	+	1	1103	c.761G>A	c.(760-762)gGa>gAa	p.G254E		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	254					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AAAGAATACGGAGCACTTTCA	0.383000														36			62		0	0	1	0	0
CMPK2	129607	broad.mit.edu	37	2	6991667	6991667	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:6991667C>T	uc002qyo.3	-	3	1249	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E	CMPK2_uc002qyn.1_Non-coding_Transcript|CMPK2_uc010yis.1_Intron|CMPK2_uc010ewv.3_Silent_p.E380E	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN	Homo sapiens cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial (CMPK2), nuclear gene encoding mitochondrial protein, mRNA.	380					dTDP biosynthetic process	mitochondrion	ATP binding|UMP kinase activity|cytidylate kinase activity|thymidylate kinase activity			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCAACCTCTCCTCAGGACTCA	0.587000														78			23		0	0	1	0	0
CLPP	8192	broad.mit.edu	37	19	6364601	6364601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6364601C>T	uc002mem.1	+	3	629	c.506C>T	c.(505-507)tCg>tTg	p.S169L		NM_006012	NP_006003	Q16740	CLPP_HUMAN	Homo sapiens ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli) (CLPP), nuclear gene encoding mitochondrial protein, mRNA.	169					proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|ovary(2)	6						ATGCGCCACTCGCTCCCCAAC	0.657000														36			23		0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413062	124413062	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124413062C>T	uc010sam.2	-	0	489	c.489G>A	c.(487-489)atG>atA	p.M163I		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	163					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)		AGGTCAGGTTCATTATGCTTC	0.502000														81			33		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53040680	53040680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53040680G>A	uc001sat.3	-	6	1346	c.1313C>T	c.(1312-1314)gCc>gTc	p.A438V		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	438	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTTGTTCCTGGCATCCTTGAG	0.567000														96			45		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141902	133141902	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133141902C>T	uc003ytj.3	-	14	2451	c.2226G>A	c.(2224-2226)gtG>gtA	p.V742V	KCNQ3_uc003yti.3_Silent_p.V622V|KCNQ3_uc010mdt.3_Silent_p.V730V	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	742					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGGGCCTCTCCACATACGTTG	0.592000														27			17		0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90784905	90784905	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90784905C>T	uc002bpc.3	+	3	944	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GDPGP1_uc021suh.1_Silent_p.F255F	NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	Homo sapiens chromosome 15 open reading frame 58 (C15orf58), mRNA.	255					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										CTCCTGGCTTCCTCTTTTACA	0.577000														72			12		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80645963	80645963	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:80645963G>A	uc001szd.3	+	11	1246	c.1240G>A	c.(1240-1242)Gga>Aga	p.G414R		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTGTCTTGATGGATGTTACTG	0.443000														10			3		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14756399	14756399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:14756399G>A	uc003zlm.3	-	29	6196	c.5380C>T	c.(5380-5382)Cca>Tca	p.P1794S	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.P330S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1794	Calx-beta.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGTTTAGATGGAATCACGGTG	0.333000														10			5		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15580660	15580660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15580660G>A	uc002nbg.3	-	3	1557	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	PGLYRP2_uc002nbf.4_Missense_Mutation_p.S475F	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	475					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GAAGCCCCGGGAGTTGTGGCC	0.706000														11			4		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109688977	109688977	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:109688977G>A	uc004bcz.3	+	2	3073	c.2784G>A	c.(2782-2784)cgG>cgA	p.R928R	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.R776R|ZNF462_uc004bda.3_Silent_p.R776R	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	928					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACCGGTGTCGGTTTTGTTCAT	0.473000														140			12		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887578	25887578	+	Missense_Mutation	SNP	C	T	T	rs151132862		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:25887578C>T	uc001isj.3	+	10	3083	c.3023C>T	c.(3022-3024)cCt>cTt	p.P1008L	GPR158_uc001isk.3_Missense_Mutation_p.P383L	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1008						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAGGTGTGTCCTTGGGAGGTT	0.478000														56			33		0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100330	8100330	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:8100330G>A	uc001ijz.3	+	2	861	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	GATA3_uc001ika.3_Missense_Mutation_p.A102T	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	102				A -> V (in Ref. 2; CAA38877).	T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CGGCGGCAAAGCCCTGGGCAG	0.687000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""							119			29		0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41796986	41796986	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:41796986G>A	uc001zoa.3	-	16	2283	c.2105C>T	c.(2104-2106)tCc>tTc	p.S702F	LTK_uc001zob.3_Missense_Mutation_p.S641F|LTK_uc010ucx.1_Missense_Mutation_p.S572F|LTK_uc010bcg.2_Missense_Mutation_p.S400F	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	702	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		ATCTGTCTTGGATGTGAAGAT	0.607000										TSP Lung(18;0.14)				56			20		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153190713	153190713	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:153190713C>T	uc011dcy.2	+	15	2706	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F	GRIA1_uc003lva.4_Silent_p.F883F|GRIA1_uc003luy.4_Silent_p.F883F|GRIA1_uc003luz.4_Silent_p.F788F|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.F803F|GRIA1_uc011dcx.2_Silent_p.F814F|GRIA1_uc011dcz.2_Silent_p.F893F	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	883					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.M893I(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCCATGACTTCCCCAAGTCCA	0.607000														32			39		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454619	84454619	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:84454619G>A	uc001vlk.3	-	0	1910	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	342	LRRNT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGCCCCCAGGGCAGGGTAAA	0.537000														103			8		0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187627274	187627274	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:187627274C>T	uc002ups.3	+	7	2317	c.2205C>T	c.(2203-2205)atC>atT	p.I735I	FAM171B_uc002upr.1_Silent_p.I702I|FAM171B_uc002upt.3_Silent_p.I204I	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	735						integral to membrane	DNA binding	p.I735F(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGCCCAAGATCCTTTACTTAG	0.488000														97			33		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110901982	110901982	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:110901982G>A	uc003hzy.4	+	15	2674	c.2222_splice	c.e15-1	p.G741_splice	EGF_uc011cfu.2_Splice_Site_p.G699_splice|EGF_uc011cfv.2_Splice_Site_p.G741_splice|EGF_uc010imk.3_5'UTR	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	741	EGF-like 5.				DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TCTCTACTAGGAGCAGATCCC	0.408000														88			29		0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6953543	6953543	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6953543C>T	uc001mey.3	+	2	628	c.40C>T	c.(40-42)Cga>Tga	p.R14*	ZNF215_uc010raw.2_Nonsense_Mutation_p.R14*|ZNF215_uc010rax.2_5'UTR|ZNF215_uc001mez.1_Nonsense_Mutation_p.R14*	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	14					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CTCAAAACCTCGAAACCTGTC	0.468000														73			33		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034580	52034580	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52034580C>T	uc002pwy.3	-	1	469	c.261G>A	c.(259-261)gaG>gaA	p.E87E	SIGLEC6_uc002pwz.3_Silent_p.E87E|SIGLEC6_uc010ydb.2_Silent_p.E51E|SIGLEC6_uc010ydc.2_Silent_p.E87E|SIGLEC6_uc002pxa.3_Silent_p.E87E|SIGLEC6_uc010eoz.2_Silent_p.E87E|SIGLEC6_uc010epa.2_Silent_p.E76E|SIGLEC6_uc010epb.2_Silent_p.E40E	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	87	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CCCGGGTCTCCTCCTGCACTT	0.572000														100			36		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29527590	29527590	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:29527590C>T	uc002hgg.3	+	8	1422	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*	NF1_uc002hge.2_Nonsense_Mutation_p.Q347*|NF1_uc002hgf.2_Nonsense_Mutation_p.Q347*|NF1_uc002hgh.3_Nonsense_Mutation_p.Q347*|NF1_uc010csn.2_Nonsense_Mutation_p.Q207*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	347					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCTACTTGTTCAGTCCATGGT	0.348000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				62			42		0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447742	10447742	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:10447742G>A	uc003gmn.3	-	2	698	c.211C>T	c.(211-213)Ctt>Ttt	p.L71F	ZNF518B_uc021xme.1_Missense_Mutation_p.L71F	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAATCTTGAAGAGAGATCTTG	0.463000														151			53		0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107097124	107097124	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:107097124G>A	uc003dwi.1	+	0	937	c.690G>A	c.(688-690)agG>agA	p.R230R		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	230										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATGCATCAAGGAGCTTTGAAA	0.368000														122			54		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180036981	180036981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:180036981G>A	uc003mlz.4	-	27	3810	c.3731C>T	c.(3730-3732)gCt>gTt	p.A1244V	FLT4_uc003mma.4_Missense_Mutation_p.A1244V	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1244					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.A1244V(3)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACGGGTCTCAGCCCCTCTGGC	0.572000														130			47		0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43319621	43319621	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:43319621G>A	uc010dnk.3	+	8	1330	c.1108G>A	c.(1108-1110)Ggc>Agc	p.G370S	SLC14A1_uc002lbi.4_Missense_Mutation_p.G182S|SLC14A1_uc010xcn.2_Missense_Mutation_p.G314S|SLC14A1_uc002lbf.4_Missense_Mutation_p.G314S|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Missense_Mutation_p.G209S|SLC14A1_uc002lbh.4_Missense_Mutation_p.G206S|SLC14A1_uc002lbj.4_Missense_Mutation_p.G370S|SLC14A1_uc002lbk.4_Missense_Mutation_p.G314S|SLC14A1_uc021ujg.1_Silent_p.L264L	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	314						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCTGGCTCTTGGCTGTGGTGA	0.537000														64			23		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157648592	157648592	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157648592C>T	uc001fqz.4	-	14	2405	c.2113G>A	c.(2113-2115)Ggg>Agg	p.G705R	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.G431R|FCRL3_uc001frb.3_Missense_Mutation_p.G705R|FCRL3_uc001frc.1_Missense_Mutation_p.G705R	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	705						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTAGCCTCCCCTGCAGAGTCG	0.468000														46			18		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202704705	202704705	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:202704705G>A	uc009xag.3	-	22	3499	c.3383C>T	c.(3382-3384)cCt>cTt	p.P1128L	KDM5B_uc001gyf.3_Missense_Mutation_p.P1092L|KDM5B_uc001gyg.1_Missense_Mutation_p.P934L	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1092					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATCACATCGAGGACACAGCAC	0.388000														49			29		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135980	156135980	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:156135980G>A	uc003ioq.3	+	1	1378	c.889G>A	c.(889-891)Gtc>Atc	p.V297I	NPY2R_uc003ior.3_Missense_Mutation_p.V297I|NPY2R_uc021xtm.1_Missense_Mutation_p.V297I	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	297					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGACAGCCAGGTCCTGGACCT	0.522000														55			13		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56297165	56297165	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56297165C>T	uc010ygf.2	-	11	3639	c.2928G>A	c.(2926-2928)ttG>ttA	p.L976L	NLRP11_uc002qlz.3_Silent_p.L823L|NLRP11_uc002qmb.3_Silent_p.L877L|NLRP11_uc002qmc.3_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	976							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACAGAAAGATCAAACTGGGTT	0.423000														82			32		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046410	9046410	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9046410C>T	uc002mkp.3	-	4	35425	c.35221G>A	c.(35221-35223)Gag>Aag	p.E11741K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11743	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						GTCACCATCTCTGGTGCACCA	0.488000														95			35		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424299	56424299	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56424299G>A	uc010ygg.2	-	4	909	c.884C>T	c.(883-885)cCc>cTc	p.P295L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	295	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTCTTCAATGGGGGCATCAAA	0.398000														66			26		0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801459	9801459	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9801459C>T	uc021uop.1	-	5	1366	c.720G>A	c.(718-720)gtG>gtA	p.V240V	ZNF812_uc010xkx.2_Silent_p.V136V	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TATGAATTTTCACATGTGCAG	0.333000														57			27		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81532943	81532943	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81532943G>A	uc001szl.1	+	3	770	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	ACSS3_uc001szm.1_Missense_Mutation_p.E226K	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	227						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ATTTGGCATTGAACCTGGAAG	0.338000														64			22		0	0	1	0	0
C5orf28	64417	broad.mit.edu	37	5	43446355	43446355	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:43446355G>A	uc003jny.3	-	2	760	c.617C>T	c.(616-618)tCt>tTt	p.S206F	C5orf28_uc003jnv.4_Missense_Mutation_p.S206F|C5orf28_uc003jnx.3_Missense_Mutation_p.S206F	NM_022483	NP_071928	Q0VDI3	CE028_HUMAN	Homo sapiens chromosome 5 open reading frame 28 (C5orf28), mRNA.	206						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					ATGTTTTGAAGACATCATTTG	0.368000														68			12		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81769583	81769583	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81769583G>A	uc001szo.2	-	9	1284	c.1123C>T	c.(1123-1125)Ctg>Ttg	p.L375L	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Silent_p.L301L|PPFIA2_uc021rbh.1_Silent_p.L276L|PPFIA2_uc021rbi.1_Silent_p.L375L|PPFIA2_uc021rbj.1_Silent_p.L375L|PPFIA2_uc021rbk.1_Silent_p.L357L|PPFIA2_uc021rbl.1_Silent_p.L375L|PPFIA2_uc010sue.2_Silent_p.L275L	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	301										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACCTGCCGCAGGATAGCTTCT	0.398000														27			11		0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193361862	193361862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:193361862C>T	uc003ftg.3	+	15	1810	c.1576C>T	c.(1576-1578)Ctg>Ttg	p.L526L	OPA1_uc003fth.3_Silent_p.L490L|OPA1_uc003fti.3_Silent_p.L508L|OPA1_uc003ftj.3_Silent_p.L489L|OPA1_uc003ftk.3_Silent_p.L472L|OPA1_uc003ftl.3_Silent_p.L453L|OPA1_uc003ftm.3_Silent_p.L471L|OPA1_uc003ftn.3_Silent_p.L435L	NM_130837	NP_570850	O60313	OPA1_HUMAN	Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA.	471					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CAAAGTAGACCTGGCAGAGAA	0.433000														44			32		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841843	94841843	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:94841843G>A	uc002btj.3	+	0	414	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	MCTP2_uc010urg.1_Missense_Mutation_p.E117K|MCTP2_uc002bti.2_Missense_Mutation_p.E117K|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.E117K|MCTP2_uc002btg.4_Missense_Mutation_p.E117K|MCTP2_uc002bth.4_Missense_Mutation_p.E117K	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	117					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CCATGTGGTGGAAACAGACTC	0.532000														203			36		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588821	179588821	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179588821C>T	uc021vsy.1	-	69	17658	c.17433G>A	c.(17431-17433)ggG>ggA	p.G5811G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G2472G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6738	Ig-like 39.						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)			CACCTAACACCCCACCAGTAT	0.433000														30			7		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15729966	15729966	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15729966T>A	uc001ioc.1	-	2	415	c.415A>T	c.(415-417)Aca>Tca	p.T139S	ITGA8_uc010qcb.1_Missense_Mutation_p.T139S	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	139					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCTTTCACTGTTGCTCCAAAC	0.423000														126			20		0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3823288	3823288	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3823288C>T	uc002lyw.2	-	7	1339	c.1327G>A	c.(1327-1329)Ggc>Agc	p.G443S	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	443						intracellular	nucleic acid binding|zinc ion binding	p.A442P(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCAGAGCAGCCCGCGGGAGCT	0.627000														128			45		0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032589	55032589	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55032589G>A	uc010rid.2	+	1	344	c.258G>A	c.(256-258)ttG>ttA	p.L86L		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	70						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ACATTCGATTGAAGAAGATGG	0.438000														26			29		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47882633	47882633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:47882633G>A	uc003tny.2	-	33	5406	c.5372C>T	c.(5371-5373)tCc>tTc	p.S1791F		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1791					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCCCGGCAGGGAAGCTTCTTG	0.473000														43			7		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414247	22414247	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22414247C>T	uc001yuf.3	+	0	786	c.546C>T	c.(544-546)ttC>ttT	p.F182F	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		CGTGCCCCTTCAGGGCTTTCC	0.453000														104			40		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54791248	54791248	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54791248G>A	uc001sga.3	-	28	3035	c.2967C>T	c.(2965-2967)acC>acT	p.T989T		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	989					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CTTCTGCCTTGGTCCATTGCA	0.522000														41			12		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32724803	32724803	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:32724803C>T	uc010ezu.3	+	45	8792	c.8658C>T	c.(8656-8658)tcC>tcT	p.S2886S		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2886					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAGATAGCTCCGTGGGTGCTC	0.438000														199			68		0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11891923	11891923	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11891923C>T	uc010dyj.3	+	3	1478	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	ZNF441_uc002msn.4_Silent_p.F384F	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAAAAGCCTTCATTTGTTGCA	0.368000														49			22		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54902260	54902260	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54902260C>T	uc001sgc.4	+	4	530	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.R101W	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	151					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity	p.D150Y(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GATTGAAGATCGGCGGATACT	0.423000														155			99		0	0	1	0	0
CHGA	1113	broad.mit.edu	37	14	93390581	93390581	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:93390581G>A	uc001ybc.4	+	1	344	c.84G>A	c.(82-84)ggG>ggA	p.G28G	CHGA_uc001ybd.4_Silent_p.G28G	NM_001275	NP_001266	P10645	CMGA_HUMAN	Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA.	28					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		TGAATAAAGGGGATACCGAGG	0.562000														19			9		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135206752	135206752	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135206752G>T	uc004cbk.3	-	7	1105	c.922C>A	c.(922-924)Ctt>Att	p.L308I	SETX_uc004cbj.3_5'Flank|SETX_uc010mzt.3_5'Flank	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	308					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GGATCCATAAGTTGACCCCAG	0.433000														62			16		4.14922e-12	4.16655e-12	1	1	0
ATP6V0A4	50617	broad.mit.edu	37	7	138418941	138418941	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:138418941G>A	uc003vuf.3	-	14	1869	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L	ATP6V0A4_uc003vug.3_Missense_Mutation_p.S544L|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.S544L	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	544					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAGGATCACCGACATCTTCAT	0.428000														68			31		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103907979	103907979	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:103907979C>T	uc001phr.2	+	0	672	c.429C>T	c.(427-429)ccC>ccT	p.P143P	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	143					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGGGCAGCCCCGCCCTGATCC	0.672000														42			19		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933284	44933284	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44933284C>T	uc002oze.1	-	5	2106	c.1672G>A	c.(1672-1674)Gac>Aac	p.D558N	ZNF229_uc010ejk.1_Missense_Mutation_p.D212N|ZNF229_uc010ejl.1_Missense_Mutation_p.D552N	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ATGTGGAGGTCGGAGCTCCGG	0.542000														80			33		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739539	55739539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55739539C>T	uc003pcq.3	-	0	837	c.125G>A	c.(124-126)aGa>aAa	p.R42K	BMP5_uc011dxf.2_Missense_Mutation_p.R42K	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	42					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTTCCGTAGTCTTCTATAAAT	0.453000														173			62		0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205273430	205273430	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205273430C>T	uc001hce.3	-	6	1162	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	345					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGGCCCCATTCTCCAGGAGGG	0.667000														27			20		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70922888	70922888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:70922888C>T	uc021vjc.1	-	5	785	c.520G>A	c.(520-522)Gga>Aga	p.G174R	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.G174R|ADD2_uc002sgz.3_Missense_Mutation_p.G174R|ADD2_uc010fdt.2_Missense_Mutation_p.G174R|ADD2_uc002shc.2_Missense_Mutation_p.G174R|ADD2_uc010fdu.2_Missense_Mutation_p.G190R	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	174					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.G174R(3)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CAAGAAACTCCCTTAGGGCTG	0.517000														31			8		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7011416	7011416	+	Silent	SNP	C	T	T	rs148253534		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:7011416C>T	uc002knm.3	-	24	3664	c.3570G>A	c.(3568-3570)acG>acA	p.T1190T	LAMA1_uc010wzj.2_Silent_p.T666T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1190	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCCCTCGGTCGTGCCCCTCA	0.597000														8			4		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13381426	13381426	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:13381426G>A	uc003bxv.1	-	24	3482	c.3399C>T	c.(3397-3399)atC>atT	p.I1133I		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1133					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGCCGTTCCCGATGGCGAGGC	0.622000														157			44		0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175304647	175304647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:175304647C>T	uc002uit.3	-	15	2682	c.2291G>A	c.(2290-2292)cGa>cAa	p.R764Q	GPR155_uc002uiu.3_Missense_Mutation_p.R764Q|GPR155_uc002uiv.3_Missense_Mutation_p.R764Q|GPR155_uc010fqs.3_Missense_Mutation_p.R736Q	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	764	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GACAATGTTTCGGATACAGAG	0.333000														88			28		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113287617	113287617	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113287617G>A	uc001pnz.3	-	2	821	c.500C>T	c.(499-501)tCc>tTc	p.S167F	DRD2_uc010rwv.2_Missense_Mutation_p.S166F|DRD2_uc001poa.4_Missense_Mutation_p.S167F|DRD2_uc001pob.4_Missense_Mutation_p.S167F|DRD2_uc009yyr.1_Missense_Mutation_p.S167F	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	167					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GAGTGGGCAGGAGATGGTGAA	0.592000														33			8		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6078444	6078444	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6078444G>A	uc001qnn.1	-	44	7912	c.7662C>T	c.(7660-7662)gtC>gtT	p.V2554V	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2554					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGCAGACAGGGACCTCCAGCT	0.617000														39			10		0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11504573	11504574	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:11504573_11504574GG>AA	uc001iks.1	-	13	2447_2448	c.2404_2405CC>TT	c.(2404-2406)ccc>TTc	p.P802F	USP6NL_uc001ikt.3_Missense_Mutation_p.P785F	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	785						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						ATATCTCACGGGACTATCTACA	0.535000														164			56		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50546780	50546780	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:50546780C>T	uc001zxz.3	-	4	865	c.523G>A	c.(523-525)Gat>Aat	p.D175N	HDC_uc001zxy.3_5'Flank|HDC_uc010uff.2_Missense_Mutation_p.D175N|HDC_uc010bet.2_Missense_Mutation_p.D96N|HDC_uc010beu.2_Missense_Mutation_p.D175N	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	175					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TCATCAGCATCGGGCTCAGAC	0.547000														50			26		0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4924939	4924939	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:4924939G>A	uc004fqo.3	+	0	809	c.75G>A	c.(73-75)cgG>cgA	p.R25R	PCDH11Y_uc010nwg.1_Silent_p.R14R|PCDH11Y_uc004fql.1_Silent_p.R14R|PCDH11Y_uc004fqm.1_Silent_p.R14R|PCDH11Y_uc004fqn.1_Silent_p.R25R	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	25					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTGTTGTGCGGGTTAATACAA	0.428000														35			28		0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44624560	44624560	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:44624560G>A	uc021xnx.1	-	5	731	c.714C>T	c.(712-714)atC>atT	p.I238I		NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA.	238						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ACCAGCCAATGATGACCAGGG	0.453000														37			13		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885322	24885322	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24885322G>A	uc001wpf.4	+	8	4685	c.4367G>A	c.(4366-4368)tGg>tAg	p.W1456*		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1456					DNA integration	integral to membrane	DNA binding	p.W1455S(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGGCAGTGGTGGAGTTTGCCA	0.602000														40			25		0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25610314	25610314	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:25610314C>T	uc011djw.2	+	35	4252	c.3884C>T	c.(3883-3885)gCc>gTc	p.A1295V	LRRC16A_uc010jpy.3_Missense_Mutation_p.A1289V	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	1295					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CCGAAAGTTGCCCTTCTTCCA	0.478000														151			55		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47532724	47532724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:47532724G>A	uc002zia.1	+	3	803	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	COL6A2_uc002zhz.1_Missense_Mutation_p.E241K|COL6A2_uc002zhy.1_Missense_Mutation_p.E241K	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	241	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCAGAAACACGAAGCCTACGG	0.642000														71			13		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938364	2938364	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:2938364C>T	uc001ajz.3	+	0	319	c.114C>T	c.(112-114)atC>atT	p.I38I		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	38						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TCAGCTCCATCGTGGGGCACC	0.597000														38			15		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086479	100086479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100086479G>A	uc003uvd.1	+	3	1294	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	NYAP1_uc003uve.1_Missense_Mutation_p.E161K	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	379	Pro-rich.																GCCTGCACGGGAGCGGGAGAC	0.701000														50			24		0	0	1	0	0
KRT8P41	283102	broad.mit.edu	37	11	9116993	9116993	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:9116993G>A	uc010rbv.1	+	0		c.1084G>A								Homo sapiens keratin 8 pseudogene 41 (KRT8P41), non-coding RNA.																		GGCTCAGACTGAGGGCCTCAA	0.552000														11			5		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228525050	228525050	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228525050C>T	uc009xez.1	+	65	16810	c.16766C>T	c.(16765-16767)tCc>tTc	p.S5589F	OBSCN_uc001hsn.3_Missense_Mutation_p.S5589F|OBSCN_uc001hsr.1_Missense_Mutation_p.S217F	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5589					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGAGTCTTCCTCAGAGTCA	0.647000														15			4		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49381496	49381496	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:49381496G>A	uc002rww.3	-	0	171	c.61C>T	c.(61-63)Cgg>Tgg	p.R21W	FSHR_uc010fbn.3_Missense_Mutation_p.R21W|FSHR_uc002rwx.3_Missense_Mutation_p.R21W|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	21	LRRNT.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGACAGATCCGATGATGACAT	0.493000									Gonadal Dysgenesis, 46 XX					36			18		0	0	1	0	0
SCAMP3	10067	broad.mit.edu	37	1	155227093	155227093	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155227093G>T	uc001fjs.3	-	6	996	c.762C>A	c.(760-762)atC>atA	p.I254I	FAM189B_uc001fjm.3_5'Flank|FAM189B_uc001fjn.3_5'Flank|FAM189B_uc001fjo.3_5'Flank|FAM189B_uc001fjp.3_5'Flank|FAM189B_uc001fjq.1_5'Flank|SCAMP3_uc001fjt.3_Silent_p.I228I	NM_005698	NP_005689	O14828	SCAM3_HUMAN	Homo sapiens secretory carrier membrane protein 3 (SCAMP3), transcript variant 1, mRNA.	254					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCAACCTGGGATACCAATGG	0.463000														23			8		1.76689e-08	1.7722e-08	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84582010	84582010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:84582010G>A	uc002bjz.4	+	15	2091	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E623K	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	623	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGCCTCCTGGAAGCATGTGA	0.612000														50			18		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756116	10756116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10756116G>A	uc003wtk.1	-	2	1299	c.1272C>T	c.(1270-1272)atC>atT	p.I424I		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	424						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AAATGTACACGATCCCTACCA	0.493000														22			12		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84474551	84474551	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84474551G>A	uc010chj.3	+	13	1387	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E	ATP2C2_uc002fhx.3_Missense_Mutation_p.G433E|ATP2C2_uc002fhy.3_Missense_Mutation_p.G450E|ATP2C2_uc002fhz.3_Missense_Mutation_p.G282E	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	433					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTCTCAGTGGGAAAGTTAGTG	0.493000														16			7		0	0	1	0	0
PRDM12	59335	broad.mit.edu	37	9	133540058	133540058	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:133540058C>T	uc004bzt.1	+	0	78	c.18C>T	c.(16-18)ctC>ctT	p.L6L		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GCTCCGTGCTCCCGGCTGAGG	0.746000														11			8		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137928403	137928403	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:137928403C>T	uc002tva.1	+	5	1525	c.1525C>T	c.(1525-1527)Cca>Tca	p.P509S	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.P399S	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)		TTGTGAGGATCCAATGTGCTA	0.512000														48			18		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284619	152284619	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152284619C>T	uc001ezu.1	-	2	2779	c.2743G>A	c.(2743-2745)Gaa>Aaa	p.E915K	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	915	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAGCTTCATGGTGACGT	0.567000									Ichthyosis					405			160		0	0	1	0	0
RNF182	221687	broad.mit.edu	37	6	13977612	13977612	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:13977612C>T	uc021ylw.1	+	2	755	c.262C>T	c.(262-264)Ctt>Ttt	p.L88F	RNF182_uc021ylx.1_Missense_Mutation_p.L88F|RNF182_uc003nbe.3_Missense_Mutation_p.L88F|RNF182_uc003nbf.3_Missense_Mutation_p.L88F|RNF182_uc003nbg.3_Missense_Mutation_p.L88F|RNF182_uc021yly.1_Missense_Mutation_p.L88F	NM_001165034	NP_689950	Q8N6D2	RN182_HUMAN	Homo sapiens ring finger protein 182 (RNF182), transcript variant 4, mRNA.	88						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			CAACAACATCCTTGTAAACTT	0.542000														89			36		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176476	140176476	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140176476C>T	uc003lhd.2	+	0	2033	c.1927C>T	c.(1927-1929)Cct>Tct	p.P643S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.P643S|PCDHAC2_uc011czy.2_Missense_Mutation_p.P643S	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	654	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)			GGCTGACTCCCCTCGACACCG	0.637000														66			29		0	0	1	0	0
OR2L1P	26247	broad.mit.edu	37	1	248153922	248153922	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248153922C>T	uc001idv.1	+	0	354	c.110C>T	c.(109-111)gCc>gTc	p.A37V	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						ACATCAATGGCCTATGATCGT	0.458000														123			41		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94376979	94376979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:94376979C>T	uc011cdt.2	+	10	1970	c.1712C>T	c.(1711-1713)gCt>gTt	p.A571V	GRID2_uc011cdu.2_Missense_Mutation_p.A476V	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	571					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TCTCTATGGGCTTGCATTGCT	0.478000														104			48		0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155491738	155491738	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155491738A>G	uc003ioa.4	+	7	1451	c.1412A>G	c.(1411-1413)aAg>aGg	p.K471R	FGB_uc010ipv.3_Missense_Mutation_p.K412R	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	471	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ATGAATTGGAAGGGGTCATGG	0.473000														52			15		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65178594	65178594	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:65178594C>T	uc002lke.1	-	1	4506	c.3282G>A	c.(3280-3282)ttG>ttA	p.L1094L	DSEL_uc021ulg.1_Silent_p.L1094L	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	1084						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ATTCTTTCCTCAATGGTTCAT	0.368000														50			6		0	0	1	0	0
NFKBID	84807	broad.mit.edu	37	19	36387009	36387009	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36387009G>A	uc002oci.1	-	8	1053	c.479C>T	c.(478-480)gCc>gTc	p.A160V	NFKBID_uc002och.1_5'UTR	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta (NFKBID), mRNA.	160					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						GGCCAGGATGGCCGTGTGGAG	0.642000														106			10		0	0	1	0	0
SACM1L	22908	broad.mit.edu	37	3	45773594	45773594	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:45773594C>T	uc003cos.2	+	12	1255	c.1051C>T	c.(1051-1053)Cga>Tga	p.R351*	SACM1L_uc011bag.1_Nonsense_Mutation_p.R248*|SACM1L_uc011bah.1_Nonsense_Mutation_p.R285*|SACM1L_uc003cot.2_5'Flank	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	Homo sapiens SAC1 suppressor of actin mutations 1-like (yeast) (SACM1L), mRNA.	351	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GAGATGGGATCGACTAAGTAT	0.338000														133			47		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179620142	179620142	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179620142C>T	uc010pnp.2	+	11	2459	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	TDRD5_uc021pfm.1_Silent_p.F647F|TDRD5_uc001gnf.2_Silent_p.F647F|TDRD5_uc021pfn.1_Silent_p.F647F|TDRD5_uc001gnh.2_Silent_p.F202F	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	647					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATGTCTATTTCCATCATGTCT	0.383000														123			50		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435305	18435305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:18435305C>T	uc001rdt.3	+	1	406	c.290C>T	c.(289-291)tCc>tTc	p.S97F	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.S97F|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	97					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CGTGAACTCTCCTGGCATCAA	0.423000														115			30		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5047039	5047039	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:5047039G>A	uc002cye.2	+	7	1144	c.964G>A	c.(964-966)Gac>Aac	p.D322N		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	322	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCATTACCAGGACATAGGTGC	0.532000														18			5		0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124810354	124810354	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124810354G>A	uc003ehw.4	-	11	2007	c.1937C>T	c.(1936-1938)aCc>aTc	p.T646I	SLC12A8_uc003ehv.4_Missense_Mutation_p.T617I|SLC12A8_uc003eht.4_Missense_Mutation_p.T418I|SLC12A8_uc010hry.3_Intron	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	617					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GTTAACCAGGGTATACACCCA	0.488000														52			21		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124371784	124371784	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124371784G>A	uc001uft.4	+	50	8590	c.8565G>A	c.(8563-8565)gcG>gcA	p.A2855A		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2855	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAACAAAGCGATGATCTTTC	0.542000														26			15		0	0	1	0	0
ZNF133	7692	broad.mit.edu	37	20	18295752	18295752	+	Missense_Mutation	SNP	C	T	T	rs140722849		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:18295752C>T	uc010zrv.1	+	4	469	c.266C>T	c.(265-267)cCt>cTt	p.P89L	ZNF133_uc010gcq.2_Missense_Mutation_p.P86L|ZNF133_uc010zrw.1_Missense_Mutation_p.P23L|ZNF133_uc010gcr.2_Missense_Mutation_p.P86L|ZNF133_uc010zrx.1_5'UTR|ZNF133_uc002wql.4_Missense_Mutation_p.P85L|ZNF133_uc010gcs.3_Missense_Mutation_p.P85L|ZNF133_uc010zry.2_5'UTR|ZNF133_uc002wqm.2_Missense_Mutation_p.P86L	NM_003434	NP_003425	P52736	ZN133_HUMAN	Homo sapiens zinc finger protein 133 (ZNF133), transcript variant 1, mRNA.	86						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						CCTTTCTGCCCTCCGGGTTTC	0.527000														115			28		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141734499	141734499	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141734499G>A	uc003vwy.3	+	15	1871	c.1817G>A	c.(1816-1818)aGa>aAa	p.R606K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	606	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R606T(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTAATAAGAGAAGCTTCATT	0.502000														32			9		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	70986992	70986992	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:70986992C>T	uc001jpf.4	+	1	226	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	31					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ACATGCGGCTCTCCGATGACA	0.617000														112			16		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119770441	119770441	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:119770441G>A	uc004bjt.2	-	5	1469	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	ASTN2_uc022bml.1_Silent_p.S156S|ASTN2_uc022bmm.1_Silent_p.S156S	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	507						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCACCCATGGGGAGGTGGCAT	0.572000														50			28		0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5529693	5529693	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:5529693G>A	uc003soo.2	-	4	2245	c.2151C>T	c.(2149-2151)gtC>gtT	p.V717V	FBXL18_uc003son.4_Intron	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	717									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TTATTCCTGAGACAGCCAGCG	0.493000														8			5		0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48471989	48471989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:48471989C>T	uc002xuv.1	+	7	794	c.584C>T	c.(583-585)tCc>tTc	p.S195F	SLC9A8_uc010zym.1_5'UTR|SLC9A8_uc010zyj.1_Missense_Mutation_p.S211F|SLC9A8_uc010zyk.1_Silent_p.L183L|SLC9A8_uc010zyl.1_Silent_p.L155L|SLC9A8_uc010gib.1_Silent_p.L149L	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 8 (SLC9A8), mRNA.	195						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GCGTTTGGCTCCCTAATATCT	0.438000														138			47		0	0	1	0	0
ADRA2A	150	broad.mit.edu	37	10	112838180	112838180	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:112838180C>A	uc001kzo.3	+	0	1391	c.426C>A	c.(424-426)atC>atA	p.I142I		NM_000681	NP_000672	P08913	ADA2A_HUMAN	Homo sapiens adrenergic, alpha-2A-, receptor (ADRA2A), mRNA.	127					Rho protein signal transduction|actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	TGTGCGCCATCAGCCTGGACC	0.602000														37			11		1.61879e-10	1.62475e-10	1	1	0
ZNF532	55205	broad.mit.edu	37	18	56606836	56606836	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:56606836C>T	uc010xeg.2	+	4	2885	c.2688C>T	c.(2686-2688)atC>atT	p.I896I	ZNF532_uc002lhp.3_Silent_p.I894I|ZNF532_uc002lho.3_Silent_p.I896I|ZNF532_uc002lhr.3_Silent_p.I894I|ZNF532_uc002lhs.3_Silent_p.I894I	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	896					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ATCCTGGCATCAAGATAGGAG	0.423000														117			10		0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145039905	145039905	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:145039905C>T	uc003ijo.4	-	4	349	c.233_splice	c.e4-1	p.G78_splice	GYPA_uc003ijn.2_Splice_Site_p.G78_splice|GYPA_uc011cia.2_Splice_Site|GYPA_uc011cib.2_Splice_Site_p.G45_splice|GYPA_uc003ijp.4_Splice_Site_p.G46_splice|GYPA_uc010ioq.3_Intron|GYPA_uc010ior.3_Splice_Site_p.G13_splice|GYPA_uc010ios.1_Intron	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	78			G -> R (in ERIK antigen; dbSNP:rs1800582).		interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TACCCTTTCTCCTATAAAGCA	0.318000														74			26		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119926576	119926576	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:119926576C>T	uc001txe.3	+	4	927	c.462C>T	c.(460-462)ttC>ttT	p.F154F	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	154										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGCCCCTCTTCCGCCAGCTCT	0.517000														55			23		0	0	1	0	0
CLASRP	11129	broad.mit.edu	37	19	45572499	45572499	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45572499C>T	uc002pak.3	+	17	1965	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	CLASRP_uc002pal.3_Non-coding_Transcript|CLASRP_uc010xxh.2_Missense_Mutation_p.R561C|CLASRP_uc002pam.3_Missense_Mutation_p.R604C	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	Homo sapiens CLK4-associating serine/arginine rich protein (CLASRP), mRNA.	623	Arg-rich.				RNA splicing|mRNA processing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCGCAAGATCCGCATGAAGTA	0.667000														48			11		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7621969	7621969	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:7621969G>A	uc021pmv.1	-	8	1273	c.1167C>T	c.(1165-1167)gcC>gcT	p.A389A	ITIH5_uc021pmu.1_Silent_p.A175A|ITIH5_uc001ijr.2_Silent_p.A389A	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	389	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.V388V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGCCACTGTGGGCCACGTACT	0.602000														30			8		0	0	1	0	0
REM2	161253	broad.mit.edu	37	14	23353973	23353973	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23353973G>A	uc001whf.1	+	1	259	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	REM2_uc010tnd.1_Missense_Mutation_p.R57Q	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP binding 2 (REM2), mRNA.	65					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		GCCCCCAGACGAAGAGGCAGT	0.577000														42			24		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52571156	52571156	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:52571156G>A	uc010bff.3	-	3	525	c.363C>T	c.(361-363)atC>atT	p.I121I	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_Silent_p.I84I|MIR1266_uc021smp.1_5'Flank	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	121	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AGGCGTGGATGATGGCATCTC	0.493000														79			40		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332825	70332825	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70332825C>T	uc001oqc.3	-	20	3487	c.3375G>A	c.(3373-3375)gcG>gcA	p.A1125A	SHANK2_uc010rqn.2_Silent_p.A601A|SHANK2_uc001opz.3_Silent_p.A596A|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	812					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding	p.A596A(1)|p.A1192A(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGCCGCTGCTCGCGGAGGGCA	0.706000														64			19		0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58491601	58491601	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:58491601G>A	uc002yaz.3	-	6	592	c.453C>T	c.(451-453)ttC>ttT	p.F151F	SYCP2_uc010gju.1_Silent_p.F52F	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	151					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TGCGAGGTACGAAACTTTCCA	0.294000														77			7		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382613	22382613	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22382613C>T	uc001yuc.1	+	6	1122	c.141C>T	c.(139-141)ttC>ttT	p.F47F	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.F47F	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCATTATTTTCACCATAAGGT	0.458000														231			78		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73235205	73235205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:73235205G>A	uc004aid.3	-	14	2124	c.1880C>T	c.(1879-1881)cCt>cTt	p.P627L	TRPM3_uc004ahu.3_Missense_Mutation_p.P457L|TRPM3_uc004ahv.3_Missense_Mutation_p.P429L|TRPM3_uc004ahw.3_Missense_Mutation_p.P499L|TRPM3_uc004ahx.3_Missense_Mutation_p.P486L|TRPM3_uc004ahy.3_Missense_Mutation_p.P489L|TRPM3_uc004ahz.3_Missense_Mutation_p.P476L|TRPM3_uc004aia.3_Missense_Mutation_p.P474L|TRPM3_uc004aib.3_Missense_Mutation_p.P464L|TRPM3_uc004aic.3_Missense_Mutation_p.P627L	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	652						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTTGATCTCAGGATCATCCAA	0.498000														157			48		0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65632592	65632592	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65632592C>T	uc001ofv.4	+	12	1730	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	MUS81_uc001ofx.4_Silent_p.F16F	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.	459					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		TCAGTGACTTCAACGCAGGAG	0.597000								Homologous recombination						190			86		0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46946124	46946124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:46946124C>T	uc010acl.3	-	2	1092	c.487G>A	c.(487-489)Gac>Aac	p.D163N	KIAA0226L_uc001vbf.4_Missense_Mutation_p.D96N|KIAA0226L_uc010tfz.2_Intron|KIAA0226L_uc010acn.3_Intron|KIAA0226L_uc010acm.3_Missense_Mutation_p.D28N|KIAA0226L_uc001vbe.4_Missense_Mutation_p.D163N|KIAA0226L_uc001vbh.4_Missense_Mutation_p.D163N|KIAA0226L_uc001vbi.4_Intron|KIAA0226L_uc010aco.1_Missense_Mutation_p.D163N	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	163										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AAAGCACTGTCAGTCTCAGGA	0.517000														32			9		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28971146	28971146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28971146G>A	uc002kwr.2	+	6	925	c.790G>A	c.(790-792)Gat>Aat	p.D264N	DSG4_uc002kwq.2_Missense_Mutation_p.D264N	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	264	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGACGTCAACGATAATTTCCC	0.388000														72			29		0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39382856	39382857	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:39382856_39382857GG>AA	uc003jlx.3	-	9	1735_1736	c.1204_1205CC>TT	c.(1204-1206)cct>TTt	p.P402F	DAB2_uc003jlw.3_Missense_Mutation_p.P381F	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	402					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TCCTTTGGGAGGGCTTCCCACA	0.505000														89			30		0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110760036	110760036	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:110760036G>A	uc003puf.3	-	4	1265	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	SLC22A16_uc003pue.3_Missense_Mutation_p.P381S	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	400					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GTGTAGGCGGGAATTTCCACT	0.542000														28			23		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79032165	79032165	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:79032165G>A	uc003kgc.3	+	1	7649	c.7577G>A	c.(7576-7578)aGa>aAa	p.R2526K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2526						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TACAATGAAAGACCCAAAATC	0.378000														33			15		0	0	1	0	0
ZNF839	55778	broad.mit.edu	37	14	102802155	102802155	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:102802155C>T	uc010awk.1	+	4	1646	c.1639C>T	c.(1639-1641)Ctg>Ttg	p.L547L	ZNF839_uc001ylo.2_Silent_p.L431L|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Silent_p.L431L|ZNF839_uc001ylr.2_Silent_p.L356L|ZNF839_uc001yls.2_Silent_p.L46L|ZNF839_uc001ylt.2_Silent_p.L21L	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	Homo sapiens zinc finger protein 839 (ZNF839), mRNA.	431						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CCAGGAGACCCTGGAAATAAA	0.413000														40			20		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123725021	123725021	+	Missense_Mutation	SNP	G	A	A	rs138933092		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:123725021G>A	uc004bkv.3	-	35	4462	c.4432C>T	c.(4432-4434)Cgg>Tgg	p.R1478W		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1478					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	p.R1478W(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCAAATATCCGGAATCGTACA	0.373000														136			9		0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114061871	114061871	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:114061871C>T	uc001kzr.1	+	8	920	c.920C>T	c.(919-921)tCc>tTc	p.S307F		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	Homo sapiens tectorin beta (TECTB), mRNA.	307						anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		AGGGGATTTTCCAGTCTCTAT	0.403000														112			49		0	0	1	0	0
KLHDC1	122773	broad.mit.edu	37	14	50210498	50210498	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:50210498C>T	uc001www.3	+	11	1099	c.1009C>T	c.(1009-1011)Caa>Taa	p.Q337*	NEMF_uc010anj.1_Intron|KLHDC1_uc010tqg.2_Nonsense_Mutation_p.Q292*|KLHDC1_uc010tqh.2_Nonsense_Mutation_p.Q252*	NM_172193	NP_751943	Q8N7A1	KLDC1_HUMAN	Homo sapiens kelch domain containing 1 (KLHDC1), mRNA.	337						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					ATTGATCTTTCAAACACAGCC	0.259000														46			15		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44913862	44913862	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:44913862C>T	uc010skz.1	-	19	2601	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	NELL2_uc001rof.3_Missense_Mutation_p.E775K|NELL2_uc001rog.2_Missense_Mutation_p.E776K|NELL2_uc001roh.2_Missense_Mutation_p.E776K|NELL2_uc009zkd.2_Missense_Mutation_p.E728K|NELL2_uc010sla.1_Missense_Mutation_p.E799K	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	776					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)		ACATTCATTTCGTCCAGGCAA	0.498000														60			15		0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122551490	122551490	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:122551490G>A	uc004etq.4	+	10	2030	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	GRIA3_uc004etr.4_Missense_Mutation_p.E580K|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.E564K	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	580					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CAGTCCTTATGAATGGCACTT	0.418000														149			41		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57859574	57859574	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57859574C>T	uc001snx.3	+	6	722	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	GLI1_uc021qzi.1_Missense_Mutation_p.P169S|GLI1_uc009zpq.3_Missense_Mutation_p.P82S	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	210			P -> A (in a breast cancer sample; somatic mutation).		epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.P210A(2)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GCCCTAGGATCCCCTGTTGGG	0.557000														89			32		0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61249308	61249308	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:61249308C>T	uc001nru.2	+	1	159	c.27C>T	c.(25-27)gtC>gtT	p.V9V	PPP1R32_uc009ynq.2_Silent_p.V9V	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 32 (PPP1R32), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	9																	CCCTGGGGGTCGTCTCCCCTT	0.637000														30			5		0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107314668	107314668	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107314668G>A	uc003vep.3	+	4	699	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	Mir_548_uc022ajy.1_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	159					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GGCCCCCGACGAACACTTTCT	0.433000									Pendred syndrome					110			41		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250254	140250254	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140250254G>A	uc003lia.2	+	0	2424	c.1566G>A	c.(1564-1566)ttG>ttA	p.L522L	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_uc011dae.2_Silent_p.L522L	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	537	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGCCGTTGGACCACGAGG	0.682000														149			55		0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	769422	769423	+	Missense_Mutation	DNP	GG	AA	AA	rs142141660		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:769422_769423GG>AA	uc010krz.1	+	1	738_739	c.718_719GG>AA	c.(718-720)ggg>AAg	p.G240K	PRKAR1B_uc021zyj.1_5'Flank|PRKAR1B_uc021zyk.1_5'Flank|PRKAR1B_uc003siw.2_5'Flank|HEATR2_uc003siz.2_Missense_Mutation_p.G108K	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	240							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TTTTGGCAACGGGAAGTCCGTG	0.574000														41			18		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47379867	47379867	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:47379867C>T	uc002leb.2	-	30	4461	c.4173G>A	c.(4171-4173)gtG>gtA	p.V1391V	MYO5B_uc002lea.2_Silent_p.V506V	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1391					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CGCCGAATTCCACCTGGGCCT	0.567000														70			35		0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42090779	42090779	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42090779C>T	uc002ore.4	+	3	876	c.780C>T	c.(778-780)ctC>ctT	p.L260L	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Silent_p.L259L	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	260						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GTTTCCTGCTCCTCCGAAAAA	0.537000														12			6		0	0	1	0	0
HPCAL4	51440	broad.mit.edu	37	1	40149780	40149780	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:40149780G>A	uc001cdr.3	-	2	327	c.207C>T	c.(205-207)ttC>ttT	p.F69F	HPCAL4_uc010oix.2_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	Homo sapiens hippocalcin like 4 (HPCAL4), mRNA.	69	EF-hand 2.				central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGAAGGTGCGGAAAGCGTGCT	0.677000														43			20		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168244307	168244307	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:168244307G>A	uc010jjg.3	-	7	1211	c.791C>T	c.(790-792)cCa>cTa	p.P264L	SLIT3_uc003mab.3_Missense_Mutation_p.P264L|SLIT3_uc010jji.2_Missense_Mutation_p.P264L|SLIT3_uc003mac.1_Missense_Mutation_p.P61L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	264	LRRCT 1.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCTCACCTGGGCACACGTA	0.572000														41			19		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922597	24922597	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24922597C>T	uc001ywo.3	+	0	2057	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	528	Pro-rich.				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)		CCTCCTCTTTCCTTCCTGACT	0.532000														213			81		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885902	24885902	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24885902C>T	uc001wpf.4	+	8	5265	c.4947C>T	c.(4945-4947)ttC>ttT	p.F1649F		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1649	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGGAGGCATTCCCCCTGAAGC	0.602000														49			12		0	0	1	0	0
PIGV	55650	broad.mit.edu	37	1	27124182	27124182	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27124182C>T	uc001bmz.3	+	3	1692	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	PIGV_uc001bna.3_Silent_p.S443S|PIGV_uc010ofg.2_Silent_p.S208S	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA.	443					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		CAGAGGACTCCCCACCAGGAC	0.478000														65			12		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151835975	151835975	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:151835975G>A	uc003wla.3	-	57	14768	c.14549C>T	c.(14548-14550)tCg>tTg	p.S4850L	MLL3_uc003wkz.3_Missense_Mutation_p.S3964L|MLL3_uc003wkx.3_Missense_Mutation_p.S1008L|MLL3_uc003wky.3_Missense_Mutation_p.S2410L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4850	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AGGTGCACACGAATGGTTGAT	0.398000			N		medulloblastoma									118			32		0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10514928	10514928	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:10514928G>A	uc001min.1	+	6	1344	c.999G>A	c.(997-999)atG>atA	p.M333I	AMPD3_uc010rbz.1_Missense_Mutation_p.M165I|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.M324I|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.M331I|AMPD3_uc009yfy.2_Missense_Mutation_p.M324I	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	324					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CCGCCTGCATGAACCAAAAGC	0.597000														142			41		0	0	1	0	0
GZMH	2999	broad.mit.edu	37	14	25076911	25076911	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:25076911C>T	uc001wpr.1	-	2	291	c.246G>A	c.(244-246)caG>caA	p.Q82Q	GZMH_uc010aly.1_Silent_p.Q82Q|GZMH_uc010alz.1_Intron	NM_033423	NP_219491	P20718	GRAH_HUMAN	Homo sapiens granzyme H (cathepsin G-like 2, protein h-CCPX) (GZMH), mRNA.	82	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	p.E81*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		GGGTCCGCTCCTGTTCCTTGA	0.542000														151			56		0	0	1	0	0
NOLC1	9221	broad.mit.edu	37	10	103912198	103912198	+	Missense_Mutation	SNP	C	T	T	rs145813353		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:103912198C>T	uc001kup.2	+	0	266	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	NOLC1_uc001kuo.2_Missense_Mutation_p.P11S|NOLC1_uc001kuq.2_Missense_Mutation_p.P11S|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	11	LisH.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CCGCGTGGTTCCCAGCGACCT	0.622000														114			14		0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6924124	6924124	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6924124G>A	uc001qqv.2	+	4	831	c.573G>A	c.(571-573)aaG>aaA	p.K191K	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Silent_p.K136K|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	191	Ig-like C2-type 1.		K -> E (in dbSNP:rs28917504).		T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AGAACCAGAAGAAGGTGGAGT	0.577000														31			6		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126412156	126412156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126412156G>A	uc003ifj.4	+	16	14179	c.14179G>A	c.(14179-14181)Gat>Aat	p.D4727N	FAT4_uc011cgp.2_Missense_Mutation_p.D2968N|FAT4_uc003ifi.1_Missense_Mutation_p.D2204N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4727					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCTATAAGGGATGGTAATAC	0.493000														91			35		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7773905	7773905	+	Silent	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:7773905A>T	uc001ijs.3	+	12	1755	c.1593A>T	c.(1591-1593)ggA>ggT	p.G531G		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	531					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A530T(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGGTGGCAGGAAAATTTGACC	0.433000														92			47		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129419523	129419523	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:129419523C>T	uc021zfb.1	+	3	707	c.602C>T	c.(601-603)tCa>tTa	p.S201L	LAMA2_uc003qbn.3_Missense_Mutation_p.S201L|LAMA2_uc003qbo.3_Missense_Mutation_p.S201L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	201	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATCTGCACTTCATTTTACTCC	0.433000														46			38		0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14339441	14339441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:14339441C>T	uc010uza.2	+	10	1291	c.1136C>T	c.(1135-1137)cCt>cTt	p.P379L	MKL2_uc002dcg.3_Missense_Mutation_p.P379L|MKL2_uc002dcj.3_5'Flank	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	368					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AATGCCACACCTAACACACCA	0.378000														118			30		0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67686146	67686146	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67686146C>T	uc002etn.3	+	26	2841	c.2721C>T	c.(2719-2721)gcC>gcT	p.A907A	RLTPR_uc010cel.1_Silent_p.A900A|RLTPR_uc010vjr.2_Silent_p.A871A|RLTPR_uc010vjs.1_5'Flank	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	907	Pro-rich.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGCCCCCTGCCCTACCAGCAC	0.567000														113			23		0	0	1	0	0
C3orf18	51161	broad.mit.edu	37	3	50602982	50602982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:50602982G>A	uc003dar.3	-	2	730	c.149C>T	c.(148-150)cCt>cTt	p.P50L	C3orf18_uc010hlo.3_Missense_Mutation_p.P50L|C3orf18_uc003das.3_Missense_Mutation_p.P50L|C3orf18_uc011bdr.2_Intron|C3orf18_uc010hlp.3_Intron|C3orf18_uc003dat.3_Missense_Mutation_p.P50L	NM_016210	NP_057294	Q9UK00	CC018_HUMAN	Homo sapiens chromosome 3 open reading frame 18 (C3orf18), transcript variant 1, mRNA.	50						integral to membrane				lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		AGCTGCATCAGGGATTCTGGT	0.607000														38			15		0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21911671	21911671	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:21911671G>A	uc002gza.2	+	1		c.2399G>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		GCCAACCAAAGTCAAAGAAGA	0.453000														0			2		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96239829	96239829	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:96239829C>T	uc001vmk.3	-	19	3034	c.2182G>A	c.(2182-2184)Gaa>Aaa	p.E728K	DZIP1_uc001vmj.3_Missense_Mutation_p.E204K|DZIP1_uc001vml.3_Missense_Mutation_p.E709K	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	728					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCCTCGATTTCGCTTCCCTCG	0.547000														98			39		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575371	136575371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136575371G>A	uc002tuu.1	-	5	1258	c.1247C>T	c.(1246-1248)cCc>cTc	p.P416L		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	416	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTGTTCAGGGGCCTGCGTGG	0.652000														85			46		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5222750	5222750	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:5222750G>A	uc002mbv.3	-	17	3287	c.3053C>T	c.(3052-3054)cCt>cTt	p.P1018L	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.2_Intron|PTPRS_uc002mbw.3_Missense_Mutation_p.P996L|PTPRS_uc002mbx.3_Intron|PTPRS_uc002mby.3_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1018	Fibronectin type-III 7.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GAAGGGGCCAGGGCCCCGGCG	0.746000														29			8		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193166058	193166058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:193166058C>T	uc003ftd.3	-	17	2197	c.2089G>A	c.(2089-2091)Gaa>Aaa	p.E697K	ATP13A4_uc003fte.1_Missense_Mutation_p.E697K|ATP13A4_uc011bsr.1_Missense_Mutation_p.E168K|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	697					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTTGTCTCTTCCTTCAATCGA	0.388000														45			33		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7324365	7324365	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7324365C>T	uc001mfe.3	+	1	478	c.241C>T	c.(241-243)Ccg>Tcg	p.P81S	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	81						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTGCTGGGTTCCGTGGCGAGA	0.542000														86			41		0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636582	73636582	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:73636582C>T	uc001vje.3	+	1	1169	c.845C>T	c.(844-846)cCc>cTc	p.P282L	KLF5_uc001vjd.3_Missense_Mutation_p.P191L	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Homo sapiens Kruppel-like factor 5 (intestinal) (KLF5), mRNA.	282					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.M281fs*43(1)|p.M281I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CAGGGCATGCCCCCTTGCACA	0.507000														74			45		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347138	89347138	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89347138G>A	uc002fmx.1	-	8	6273	c.5812C>T	c.(5812-5814)Ccc>Tcc	p.P1938S	ANKRD11_uc002fmy.1_Missense_Mutation_p.P1938S|ANKRD11_uc002fnc.1_Missense_Mutation_p.P1938S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P1895S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1938	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGCTGAAGGGACCCTCGTCC	0.697000														47			20		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43109528	43109528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43109528C>T	uc011dve.1	+	10	1807	c.1765C>T	c.(1765-1767)Cgt>Tgt	p.R589C	PTK7_uc003oub.1_Missense_Mutation_p.R581C|PTK7_uc003ouc.1_Missense_Mutation_p.R581C|PTK7_uc003oud.1_Missense_Mutation_p.R541C|PTK7_uc003oue.1_Missense_Mutation_p.R451C|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	581	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGGCCAGATTCGTGCCCATGT	0.657000														111			38		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21157582	21157582	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:21157582G>A	uc002zsz.4	-	12	1575	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	PI4KA_uc010gsq.2_Silent_p.F524F	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	438					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCACCACCGGGAACCTCTCGC	0.587000														67			27		0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132693826	132693826	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:132693826G>A	uc003qdf.3	-	3	683	c.584C>T	c.(583-585)cCc>cTc	p.P195L	MOXD1_uc003qde.3_Missense_Mutation_p.P127L	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	195					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GTTTGGGATGGGGACCTGTCT	0.373000														40			30		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072095	17072095	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17072095G>A	uc002zlp.1	-	0	1606	c.1346C>T	c.(1345-1347)cCt>cTt	p.P449L		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	449					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAAAGTTTTAGGAAGATACTT	0.498000														116			35		0	0	1	0	0
CCDC116	164592	broad.mit.edu	37	22	21989023	21989023	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:21989023C>T	uc002zve.3	+	3	764	c.671C>T	c.(670-672)tCg>tTg	p.S224L	CCDC116_uc011aih.1_Missense_Mutation_p.S224L	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	224										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CTGTGGGATTCGCTGGGTAGC	0.597000														227			93		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106539304	106539304	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106539304C>T	uc021ser.1	-	2082		c.37842G>A								Parts of antibodies, mostly variable regions.																		ATCCAGAAGCCTTGCAGGAGA	0.562000														40			75		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143049018	143049018	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143049018G>A	uc003wcr.1	+	22	3014	c.2927G>A	c.(2926-2928)cGa>cAa	p.R976Q	CLCN1_uc011ktc.1_Missense_Mutation_p.R588Q	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	976					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCCAGCCTGCGATCCACAGAC	0.617000														94			26		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181732596	181732596	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181732596C>T	uc009wxt.3	+	33	4939	c.4744C>T	c.(4744-4746)Cgc>Tgc	p.R1582C	CACNA1E_uc001gow.3_Missense_Mutation_p.R1582C|CACNA1E_uc009wxs.3_Missense_Mutation_p.R1563C|CACNA1E_uc001gox.1_Missense_Mutation_p.R808C	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1582					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						CCGAGCTGCCCGCCTCATAAA	0.468000														44			26		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397755	111397755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:111397755C>T	uc003iab.4	+	0	527	c.185C>T	c.(184-186)tCt>tTt	p.S62F		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	62					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CACCTGCCTTCTTCCACGGCC	0.637000														89			19		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219888004	219888004	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219888004C>T	uc002vjl.1	-	15	2829	c.2745G>A	c.(2743-2745)tgG>tgA	p.W915*		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	915	MSP.					integral to membrane	structural molecule activity	p.E914K(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGAGACCCTCCACTCGAACT	0.632000														20			5		0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32198639	32198639	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32198639G>A	uc001btn.3	-	25	3912	c.3558C>T	c.(3556-3558)ctC>ctT	p.L1186L	BAI2_uc010ogn.2_Silent_p.L156L|BAI2_uc010ogo.2_Silent_p.L795L|BAI2_uc010ogp.2_Silent_p.L1119L|BAI2_uc010ogq.2_Silent_p.L1153L|BAI2_uc001bto.3_Silent_p.L1186L|BAI2_uc001btp.1_Silent_p.L180L	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	1186					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGACAGCAAAGAGGGCCTGGA	0.647000														6			5		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21251345	21251345	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21251345G>A	uc002red.3	-	12	1811	c.1683C>T	c.(1681-1683)gcC>gcT	p.A561A		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	561	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACATAAGATAGGCAGCCAGTC	0.443000														130			23		0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183014925	183014925	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183014925G>A	uc003fli.1	-	11	1426	c.1336C>T	c.(1336-1338)Ctc>Ttc	p.L446F	MCF2L2_uc003flj.1_Missense_Mutation_p.L446F|MCF2L2_uc011bqr.1_Intron|BC013229_uc003fln.1_Non-coding_Transcript|BC040935_uc003flo.3_5'Flank	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	446					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.L446I(2)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GAAGCCAAGAGGTAGATTCCT	0.532000														64			12		0	0	1	0	0
PIGU	128869	broad.mit.edu	37	20	33162998	33162998	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33162998G>A	uc002xas.3	-	10	1304	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	PIGU_uc010zul.2_Silent_p.L368L|PIGU_uc002xat.3_Silent_p.L348L	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class U (PIGU), mRNA.	368					C-terminal protein lipidation|attachment of GPI anchor to protein|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						GGACAGGGAAGAGCAGGGAAC	0.493000														66			8		0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118310689	118310689	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:118310689C>T	uc001lcm.3	+	4	447	c.404C>T	c.(403-405)tCg>tTg	p.S135L		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	135					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	ACACAAGCCTCGCAGAACATC	0.463000														30			7		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567206	45567206	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:45567206G>A	uc010dnv.3	-	2	775	c.339C>T	c.(337-339)ttC>ttT	p.F113F	ZBTB7C_uc002ldb.3_Silent_p.F91F|ZBTB7C_uc010dnu.3_Silent_p.F100F|ZBTB7C_uc010dnw.3_Silent_p.F91F|ZBTB7C_uc010dnx.1_Silent_p.F91F|ZBTB7C_uc010dny.1_Silent_p.F91F|ZBTB7C_uc010dnz.1_Silent_p.F113F|ZBTB7C_uc010doi.1_Silent_p.F91F|ZBTB7C_uc010doj.1_Silent_p.F100F|ZBTB7C_uc010dok.1_Silent_p.F140F|ZBTB7C_uc010dol.1_Silent_p.F100F|ZBTB7C_uc010doa.1_Silent_p.F113F|ZBTB7C_uc010dob.1_Silent_p.F91F|ZBTB7C_uc010doc.1_Silent_p.F100F|ZBTB7C_uc010dod.1_Silent_p.F113F|ZBTB7C_uc010doe.1_Silent_p.F91F|ZBTB7C_uc010dof.1_Silent_p.F91F|ZBTB7C_uc010dog.1_Silent_p.F91F|ZBTB7C_uc010doh.1_Silent_p.F100F|ZBTB7C_uc010dom.1_Silent_p.F100F|ZBTB7C_uc010don.1_Silent_p.F99F|ZBTB7C_uc010dop.1_Silent_p.F91F|ZBTB7C_uc010doq.1_Silent_p.F100F|ZBTB7C_uc010dor.1_Silent_p.F113F|ZBTB7C_uc010dos.1_Silent_p.F91F|ZBTB7C_uc010dot.1_Silent_p.F91F|ZBTB7C_uc010doo.1_Silent_p.F91F|ZBTB7C_uc010dou.1_Silent_p.F100F	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	91						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGTGTAGGCGAACTCCAGGA	0.572000														49			22		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699252	43699252	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43699252G>A	uc002ovy.3	-	3	985	c.883C>T	c.(883-885)Ctc>Ttc	p.L295F	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.L202F	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	295	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region		p.K294K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGTAGAATGAGGATCCTGTTT	0.478000														320			27		0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71396858	71396858	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71396858C>T	uc003hfk.1	+	7	549	c.460C>T	c.(460-462)Cca>Tca	p.P154S	AMTN_uc010ihy.1_Missense_Mutation_p.P153S	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Homo sapiens amelotin (AMTN), mRNA.	154					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TGGAAGCCTTCCAGCAGGAGG	0.592000														43			22		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813462	106813462	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:106813462C>T	uc003ymd.3	+	7	1175	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	ZFPM2_uc011lhs.2_Silent_p.L115L	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	384					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACCAGGAGCTCCATGTCCCTA	0.507000														141			25		0	0	1	0	0
STMN3	50861	broad.mit.edu	37	20	62275220	62275220	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62275220G>A	uc002yfr.1	-	2	262	c.180C>T	c.(178-180)tcC>tcT	p.S60S	STMN3_uc021wgd.1_Non-coding_Transcript	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	Homo sapiens stathmin-like 3 (STMN3), mRNA.	60					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of Rac GTPase activity|regulation of cytoskeleton organization	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			GGTCAGAAGGGGACTTGAGGA	0.617000														100			41		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57537224	57537224	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57537224C>T	uc009vzx.1	-	5	849	c.529G>A	c.(529-531)Gat>Aat	p.D177N	DAB1_uc001cyt.1_Missense_Mutation_p.D177N|DAB1_uc001cyq.1_Missense_Mutation_p.D177N|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Missense_Mutation_p.D177N|DAB1_uc001cys.1_Missense_Mutation_p.D177N	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	177	PID.				cell differentiation|nervous system development			p.D177Y(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CACTGCTTATCCTTTTGTGCC	0.393000														61			27		0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16466515	16466515	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:16466515G>A	uc021trd.1	-	4	1278	c.660C>T	c.(658-660)ccC>ccT	p.P220P	ZNF287_uc002gqi.2_Silent_p.P220P	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	213	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTTCCAATATGGGAATCACAG	0.368000														58			14		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86114835	86114835	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:86114835C>T	uc003dql.3	+	8	1150	c.1150C>T	c.(1150-1152)Ctg>Ttg	p.L384L	CADM2_uc003dqj.3_Silent_p.L382L|CADM2_uc003dqk.3_Silent_p.L351L|CADM2_uc003dqm.2_Silent_p.L274L|CADM2_uc021xay.1_Silent_p.L234L|CADM2_uc021xaz.1_Silent_p.L234L|CADM2_uc021xba.1_Silent_p.L274L	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	382					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.T383M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATTTGTCACGCTGTGTTCTAT	0.423000														64			12		0	0	1	0	0
COG6	57511	broad.mit.edu	37	13	40239278	40239278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:40239278C>T	uc001uxh.2	+	3	515	c.415C>T	c.(415-417)Ctt>Ttt	p.L139F	COG6_uc001uxi.2_Missense_Mutation_p.L87F|COG6_uc010acb.2_Missense_Mutation_p.L139F	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.	139					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		AACCACTAAGCTTCAATCTGA	0.259000														71			27		0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27844028	27844028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27844028C>T	uc002rla.3	+	13	1491	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	ZNF512_uc010ylw.2_Silent_p.F439F|ZNF512_uc002rlb.3_Silent_p.F389F|ZNF512_uc010ylx.2_Silent_p.F389F|ZNF512_uc002rlc.3_Silent_p.F389F|ZNF512_uc010ylv.2_Silent_p.F389F|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_Silent_p.F361F	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	Homo sapiens zinc finger protein 512 (ZNF512), mRNA.	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F468F(4)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AGGACTGGTTCGTTGTAAACC	0.418000														74			22		0	0	1	0	0
UBE3D	90025	broad.mit.edu	37	6	83728787	83728787	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:83728787G>A	uc003pjp.2	-	7	1023	c.915C>T	c.(913-915)ttC>ttT	p.F305F	UBE3D_uc011dyx.1_Non-coding_Transcript|UBE3D_uc003pjq.3_Silent_p.F95F	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2C binding protein (UBE2CBP), mRNA.	305						cytoplasm	ligase activity										CCAACAAGGGGAATTTTTTGA	0.378000														38			29		0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53885197	53885197	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53885197C>T	uc010eqn.3	+	3	1450	c.1257C>T	c.(1255-1257)acC>acT	p.T419T	ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.2_Intron					Homo sapiens zinc finger protein 525 (ZNF525), non-coding RNA.											endometrium(3)|kidney(3)|lung(3)	9						TATCCCTTACCTGCCATTGTA	0.378000														39			21		0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45805827	45805827	+	Silent	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45805827C>G	uc002pbb.2	+	16	2449	c.2118C>G	c.(2116-2118)ccC>ccG	p.P706P	MARK4_uc002pba.2_3'UTR	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	706	KA1.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGGGCGGGCCCGAGCCCCTGT	0.741000														7			5		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170096247	170096247	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170096247G>A	uc002ues.3	-	25	4297	c.4084C>T	c.(4084-4086)Cac>Tac	p.H1362Y		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1362	EGF-like 5.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACACACTCGTGAGTACAACCA	0.383000														69			26		0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6977581	6977581	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6977581G>A	uc001mey.3	+	6	1961	c.1373G>A	c.(1372-1374)gGa>gAa	p.G458E	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Missense_Mutation_p.G220E|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	458					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CTCCATTTTGGAAACAATTTC	0.393000														70			19		0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16339859	16339859	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:16339859G>A	uc021whl.1	-	0	655	c.655C>T	c.(655-657)Cct>Tct	p.P219S	NRIP1_uc002yjx.2_Missense_Mutation_p.P219S	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	219	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ACATGATGAGGAGACTCTGCA	0.403000														111			32		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233986949	233986949	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233986949G>A	uc010zmo.2	+	2	484	c.331G>A	c.(331-333)Gac>Aac	p.D111N	INPP5D_uc010zmp.2_Missense_Mutation_p.D111N	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	111					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)		CACAGGCGACGACCCTGAGGA	0.567000														29			13		0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132522	59132522	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59132522G>A	uc010rks.2	+	0	591	c.591G>A	c.(589-591)caG>caA	p.Q197Q		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TCTTTGTACAGGTCATGACTG	0.408000														113			55		0	0	1	0	0
RHOH	399	broad.mit.edu	37	4	40245409	40245409	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:40245409G>A	uc003guz.2	+	2	1127	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	RHOH_uc021xnp.1_Missense_Mutation_p.E135K	NM_004310	NP_004301	Q15669	RHOH_HUMAN	Homo sapiens ras homolog gene family, member H (RHOH), mRNA.	135					T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CAATGCCATGGAAGGGAAGAA	0.612000														46			20		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142605697	142605697	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142605697C>T	uc003wby.1	-	14	2437	c.2173G>A	c.(2173-2175)Gag>Aag	p.E725K		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	725	Involved in Ca(2+)-dependent inactivation (By similarity).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.E724*(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TGGTAGACCTCCTCTCCATCC	0.557000														69			27		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45945569	45945569	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45945569C>T	uc002zfe.1	-	7	1369	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	TSPEAR_uc010gpv.1_Missense_Mutation_p.E367K	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	435					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGGAAGTGCTCCCCATCCACC	0.592000														128			53		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294157	25294158	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:25294157_25294158GG>AA	uc003abg.2	+	19	2563_2564	c.2406_2407GG>AA	c.(2404-2409)acggtg>acAAtg	p.V803M	SGSM1_uc010guu.1_Missense_Mutation_p.V748M|SGSM1_uc003abh.2_Missense_Mutation_p.V742M|SGSM1_uc003abj.2_Missense_Mutation_p.V687M|SGSM1_uc003abi.1_Missense_Mutation_p.V723M	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	803	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACACCCCCACGGTGCTGCGACC	0.629000														66			13		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324243	161324243	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:161324243G>A	uc010jiw.3	+	10	1654	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	GABRA1_uc010jix.3_Missense_Mutation_p.E396K|GABRA1_uc010jiy.3_Missense_Mutation_p.E396K|GABRA1_uc003lyx.4_Missense_Mutation_p.E396K|GABRA1_uc010jiz.3_Missense_Mutation_p.E396K|GABRA1_uc010jja.3_Missense_Mutation_p.E396K|GABRA1_uc010jjb.3_Missense_Mutation_p.E396K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	396					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TGCAACCATAGAACCTAAAGA	0.478000														136			25		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1270929	1270929	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1270929G>A	uc001lta.3	+	30	12878	c.12819G>A	c.(12817-12819)ccG>ccA	p.P4273P		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4273	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTCCACCCCGGGAACAGCTC	0.637000														154			24		0	0	1	0	0
DSCR4	10281	broad.mit.edu	37	21	39427006	39427006	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:39427006G>A	uc002ywp.3	-	2	405	c.300C>T	c.(298-300)ctC>ctT	p.L100L		NM_005867	NP_005858	P56555	DSCR4_HUMAN	Homo sapiens Down syndrome critical region gene 4 (DSCR4), mRNA.	100										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						ATTTCTTGTGGAGCCCATGGA	0.463000														88			36		0	0	1	0	0
RPSA	3921	broad.mit.edu	37	19	24010549	24010549	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:24010549G>A	uc002nrn.3	+	3	1009	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	196					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	p.E196Q(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ACACCCATGGGAGGTCATGCC	0.522000														27			10		0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839532	27839532	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:27839532G>A	uc022bud.1	+	0	109	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	MAGEB10_uc004dbw.3_Missense_Mutation_p.E37K	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	37								p.E37*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AGAGGAGGAAGAATCTCCCCC	0.517000														17			19		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30091926	30091926	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:30091926G>A	uc010dmc.3	+	0		c.301G>A								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		AACAGCTCATGATGGTTTGAG	0.448000														55			20		0	0	1	0	0
AQP12B	653437	broad.mit.edu	37	2	241622226	241622226	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241622226A>T	uc010fzj.3	-	0	92	c.29T>A	c.(28-30)tTc>tAc	p.F10Y	AQP12B_uc002vzt.3_Intron	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN	Homo sapiens aquaporin 12B (AQP12B), mRNA.	10						integral to membrane	transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGCAAAGAAGAAGGAGAGGGA	0.667000														75			29		0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166418738	166418738	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:166418738G>A	uc003irg.4	+	8	1684	c.1407G>A	c.(1405-1407)atG>atA	p.M469I		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	469					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTGGAAAATGATGTCAGAAA	0.289000														56			24		0	0	1	0	0
TMCO1	54499	broad.mit.edu	37	1	165697266	165697266	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:165697266G>A	uc001gdj.4	-	6	708	c.561C>T	c.(559-561)ttC>ttT	p.F187F	TMCO1_uc001gdk.4_Silent_p.F175F|TMCO1_uc001gdn.4_Non-coding_Transcript	NM_019026	NP_061899	Q9UM00	TMCO1_HUMAN	Homo sapiens transmembrane and coiled-coil domains 1 (TMCO1), transcript variant 1, mRNA.	187						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					GAGTTCAAGAGAACTTCCCAG	0.473000														90			28		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151085969	151085969	+	Silent	SNP	G	A	A	rs146195573		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151085969G>A	uc003eyp.3	+	22	3504	c.3375G>A	c.(3373-3375)gcG>gcA	p.A1125A	MED12L_uc011bnz.2_Silent_p.A985A|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Silent_p.A288A	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1125					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.G1124G(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCCTGGGGCGAGAATGACAT	0.517000														54			9		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150714977	150714977	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:150714977C>T	uc003lty.3	-	5	787	c.657G>A	c.(655-657)cgG>cgA	p.R219R	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Silent_p.R21R|SLC36A2_uc010jhv.2_Silent_p.R219R	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	219					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTGAGGTTCCGGATGAGGA	0.537000														80			14		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134980913	134980913	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:134980913C>T	uc001llz.1	+	1	132	c.131C>T	c.(130-132)tCc>tTc	p.S44F	KNDC1_uc001lma.1_5'UTR	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	44	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GACATCCTCTCCCTGCGGGAC	0.711000														4			3		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086691	100086691	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100086691C>T	uc003uvd.1	+	3	1506	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	NYAP1_uc003uve.1_Silent_p.L231L	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	449	Pro-rich.																ccgccTTGCTCCCCGGCCCCC	0.721000														6			3		0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95480899	95480899	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:95480899G>A	uc004asp.1	-	4	2085	c.2028C>T	c.(2026-2028)atC>atT	p.I676I	BICD2_uc004aso.1_Silent_p.I676I	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	676	Interacts with RAB6A (By similarity).				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCAGCTTGAGGATCTCCTCCA	0.642000														183			22		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119727714	119727715	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:119727714_119727715GG>AA	uc002tln.1	+	2	356_357	c.224_225GG>AA	c.(223-225)cgg>cAA	p.R75Q	MARCO_uc010yyf.1_5'UTR	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	75					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						GCGCGGCTCCGGGTCCTGGAGA	0.564000														75			19		0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544406	53544406	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:53544406G>A	uc001cuv.3	+	7	1536	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E	PODN_uc010onr.2_Silent_p.E437E|PODN_uc010ons.2_Silent_p.E314E|PODN_uc001cuw.3_Silent_p.E437E	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	408					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCTGGAGGAGCTCAACCTCA	0.657000														118			49		0	0	1	0	0
LOC441455	441455	broad.mit.edu	37	9	99488111	99488111	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:99488111C>T	uc011luo.1	+	0		c.9C>T								Homo sapiens makorin ring finger protein 1 pseudogene (LOC441455), non-coding RNA.																		tggtcaCCACCCCATCCCCAG	0.522000														6			3		0	0	1	0	0
CLNK	116449	broad.mit.edu	37	4	10599661	10599661	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:10599661C>T	uc003gmo.4	-	2	161	c.24G>A	c.(22-24)aaG>aaA	p.K8K	CLNK_uc003gmp.3_5'UTR	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.	8					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						CTTTAGTTGTCTTTCTATTGC	0.338000														12			7		0	0	1	0	0
ZBTB32	27033	broad.mit.edu	37	19	36207515	36207515	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36207515C>T	uc002oay.3	+	5	1535	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F	ZBTB32_uc002oaz.3_Non-coding_Transcript|MLL2_uc021usu.1_5'Flank|MLL2_uc021usv.1_5'Flank	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	Homo sapiens zinc finger and BTB domain containing 32 (ZBTB32), mRNA.	442					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCCTGGCCTCCATGCAGGCG	0.711000											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		69			31		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825147	74825147	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:74825147G>A	uc021rwl.1	+	0	1661	c.1661G>A	c.(1660-1662)gGc>gAc	p.G554D	VRTN_uc001xpw.4_Missense_Mutation_p.G554D	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	554					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						TGGCCCAGAGGCCTGTCCAAA	0.627000														100			37		0	0	1	0	0
TUBA4A	7277	broad.mit.edu	37	2	220116411	220116411	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220116411C>T	uc002vkt.1	-	2	309	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	TUBA4A_uc010zkz.1_Missense_Mutation_p.R69Q|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.	84					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGAGCTGTCGGTATGGGCC	0.542000														39			27		0	0	1	0	0
KIAA1383	54627	broad.mit.edu	37	1	232941087	232941087	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:232941087C>T	uc001hvh.2	+	0	450	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	0										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				TTCCGCAAATCTCGCGAGATA	0.602000														56			15		0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36122898	36122898	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:36122898C>T	uc003zyv.3	+	20	2858	c.2772C>T	c.(2770-2772)gtC>gtT	p.V924V	RECK_uc003zyw.3_Silent_p.V796V|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	924						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CGTCCCATGTCCCTCTCTCTG	0.557000														126			35		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904976	73904976	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:73904976G>T	uc011dyh.2	+	14	3042	c.2695G>T	c.(2695-2697)Gag>Tag	p.E899*	KCNQ5_uc011dyi.2_Nonsense_Mutation_p.E890*|KCNQ5_uc010kat.3_Nonsense_Mutation_p.E871*|KCNQ5_uc003pgk.3_Nonsense_Mutation_p.E880*|KCNQ5_uc011dyj.2_Nonsense_Mutation_p.E770*|KCNQ5_uc011dyk.2_Nonsense_Mutation_p.E630*	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	880					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GGGTCCCGAAGAGACAGAGAC	0.507000														132			8		0.000274275	0.000274614	1	1	0
HRNR	388697	broad.mit.edu	37	1	152188066	152188066	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152188066G>A	uc001ezt.1	-	2	6115	c.6039C>T	c.(6037-6039)tcC>tcT	p.S2013S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2013					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGGTAGAGGAATGACCTG	0.557000														574			36		0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31008470	31008470	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:31008470G>A	uc003tbx.3	+	1	127	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	GHRHR_uc003tby.3_5'Flank|GHRHR_uc003tbz.3_5'Flank	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	27					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CATGCACCCAGAATGTGACTT	0.547000														48			12		0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8612237	8612237	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8612237G>A	uc001qum.1	+	2	283	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA.	56					defense response to fungus|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine secretion	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					AAGGCTGTCTGAACTACACTC	0.363000														148			20		0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14156999	14156999	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:14156999G>A	uc001mle.3	+	6	975	c.707G>A	c.(706-708)gGa>gAa	p.G236E		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	237	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		ATCATCGGAGGATCCCACTCC	0.507000														66			20		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124045738	124045738	+	Silent	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124045738G>C	uc001lgc.1	+	4	611	c.360G>C	c.(358-360)ctG>ctC	p.L120L	BTBD16_uc001lgd.1_Silent_p.L119L	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	120										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CACACCCCCTGAGGGAGCTGG	0.602000														96			35		0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159462467	159462467	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:159462467C>T	uc003qrz.3	-	5	728	c.396G>A	c.(394-396)aaG>aaA	p.K132K	TAGAP_uc011eft.2_Silent_p.K69K|TAGAP_uc003qsa.3_5'UTR|TAGAP_uc003qsb.3_Silent_p.K132K	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	132	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCTTCAGCTCCTTACGGGCTT	0.522000														48			24		0	0	1	0	0
HAT1	8520	broad.mit.edu	37	2	172803273	172803273	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:172803273C>T	uc002uhi.3	+	2	234	c.158C>T	c.(157-159)cCt>cTt	p.P53L	HAT1_uc010fqi.2_5'UTR|HAT1_uc002uhj.3_Intron	NM_003642	NP_003633	O14929	HAT1_HUMAN	Homo sapiens histone acetyltransferase 1 (HAT1), transcript variant 1, mRNA.	53					DNA packaging|chromatin silencing at telomere	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			ACTTTCTTTCCTGAGTATACC	0.279000														99			29		0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92606763	92606763	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:92606763C>T	uc001doo.3	+	6	1192	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	BTBD8_uc010otc.2_Intron	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA.	309						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TAATTTCTTTCAGAAGGTAAT	0.299000														56			26		0	0	1	0	0
DYDC2	84332	broad.mit.edu	37	10	82122265	82122265	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:82122265G>A	uc001kca.1	+	2	446	c.66G>A	c.(64-66)gcG>gcA	p.A22A	DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Silent_p.A22A	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Homo sapiens DPY30 domain containing 2 (DYDC2), mRNA.	22							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			CAGAGGTGGCGAAGGTTCGGC	0.488000														52			24		0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66204690	66204690	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:66204690G>A	uc011dxu.1	-	3	1152	c.614C>T	c.(613-615)cCa>cTa	p.P205L	EYS_uc003peq.3_Missense_Mutation_p.P205L|EYS_uc003per.1_Missense_Mutation_p.P205L|EYS_uc021zbn.1_Missense_Mutation_p.P205L|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	205	EGF-like 1.				response to stimulus|visual perception	extracellular region	calcium ion binding	p.P204H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCCAGAAAATGGAGGCTGGCA	0.393000														45			16		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47514787	47514787	+	Missense_Mutation	SNP	G	A	A	rs149671949		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47514787G>A	uc003gxk.1	+	1	394	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	ATP10D_uc003gxj.3_Missense_Mutation_p.R77Q	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	77					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AATCGAATACGAACAACAAAG	0.388000														47			23		0	0	1	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75167517	75167517	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:75167517C>T	uc011cbk.2	+	7	1062	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	MTHFD2L_uc003hhu.3_Non-coding_Transcript|BC016361_uc003hhv.1_Intron	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA.	287					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			CTAAAAAAATCATTTACTAGA	0.363000														41			11		0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821945	206821945	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:206821945C>T	uc001hej.3	+	2	1570	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Missense_Mutation_p.R448C	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	468	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TGTGGGGGGTCGCTCACGTAG	0.522000														188			71		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29562632	29562632	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:29562632G>T	uc002hgg.3	+	27	4095	c.3712G>T	c.(3712-3714)Gaa>Taa	p.E1238*	NF1_uc002hgh.3_Nonsense_Mutation_p.E1238*|NF1_uc010csn.2_Nonsense_Mutation_p.E1098*|NF1_uc002hgi.1_Nonsense_Mutation_p.E271*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1238	Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.E1238E(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCTCAGGATGAACTAGCTCG	0.378000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				131			84		4.02937e-33	4.05509e-33	1	1	0
EPHA8	2046	broad.mit.edu	37	1	22927862	22927862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22927862C>T	uc001bfx.1	+	15	2924	c.2799C>T	c.(2797-2799)ctC>ctT	p.L933L		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	933	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTGGGGGCCTCACCGTGGGGG	0.677000														63			15		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39880407	39880407	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:39880407G>C	uc001zkh.3	+	8	1638	c.1459G>C	c.(1459-1461)Gac>Cac	p.D487H	THBS1_uc010bbi.3_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	487	TSP type-1 2.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTGCAAGAAAGACGCCTGCCC	0.612000														44			22		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7242285	7242285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7242285G>A	uc010sfy.2	-	3	528	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	C1R_uc010sfz.1_Missense_Mutation_p.P171S|C1R_uc021quh.1_Missense_Mutation_p.P46S|C1R_uc010sga.1_Missense_Mutation_p.P123S	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	157	EGF-like; calcium-binding (Potential).				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	TGGGGCTGGGGATCCTCCTCC	0.562000														40			23		0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	724744	724744	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:724744C>T	uc001lqt.3	+	15	1722	c.1475C>T	c.(1474-1476)gCc>gTc	p.A492V	EPS8L2_uc001lqu.3_Missense_Mutation_p.A492V|EPS8L2_uc010qwk.2_Missense_Mutation_p.A508V|EPS8L2_uc001lqv.3_Missense_Mutation_p.A447V|EPS8L2_uc001lqw.3_Missense_Mutation_p.A104V|EPS8L2_uc001lqx.3_Missense_Mutation_p.A104V|EPS8L2_uc001lqy.3_5'UTR	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	492	SH3.					cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAACACCAGCCATGGCCAAG	0.617000														41			20		0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123516367	123516367	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123516367C>T	uc001pza.1	-	2	554	c.147G>A	c.(145-147)atG>atA	p.M49I	SCN3B_uc001pzb.1_Missense_Mutation_p.M49I	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	49	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		CCTCTCTCTTCATGCAGGAGA	0.577000														133			27		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51205785	51205785	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51205785C>T	uc002psx.1	-	10	1705	c.1686G>A	c.(1684-1686)gtG>gtA	p.V562V		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	562	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGTAGGACTTCACAGCCATGA	0.697000														23			3		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114276620	114276620	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:114276620C>T	uc003ibe.4	+	37	6946	c.6846C>T	c.(6844-6846)acC>acT	p.T2282T	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.T2297T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2249					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCCCACGACCAAAGACATTA	0.483000														39			12		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20636224	20636224	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:20636224G>A	uc001mqd.3	+	6	1259	c.986_splice	c.e6-1	p.D329_splice	SLC6A5_uc009yic.3_Splice_Site_p.D94_splice	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	329					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTCCTAAACAGATTCCTGTGT	0.393000														105			38		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160793318	160793318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160793318C>T	uc001fwu.3	+	7	1612	c.1562C>T	c.(1561-1563)cCc>cTc	p.P521L	LY9_uc001fwv.3_Missense_Mutation_p.P507L|LY9_uc001fww.3_Missense_Mutation_p.P431L|LY9_uc001fwy.1_Missense_Mutation_p.P319L|LY9_uc001fwz.3_Missense_Mutation_p.P159L	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	521					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGGACACTCCCCTCAGGCCT	0.557000														37			19		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21216837	21216837	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21216837C>T	uc003zor.1	-	0	474	c.468G>A	c.(466-468)ggG>ggA	p.G156G	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	156					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGTATTTCTTCCCCATCAGAT	0.438000														403			44		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113388725	113388725	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113388725C>T	uc001tug.3	+	6	1689	c.1602C>T	c.(1600-1602)tcC>tcT	p.S534S		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	534	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AGCTGGTGTCCACAGCCCTGA	0.612000														40			21		0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63529378	63529378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:63529378G>A	uc011kdm.2	+	1	292	c.113G>A	c.(112-114)gGa>gAa	p.G38E		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	38	KRAB.				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						GAGAACTACGGAAACCTGTTC	0.388000														34			8		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952570	54952570	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:54952570G>A	uc003dhl.3	-	2	1088	c.954C>T	c.(952-954)gcC>gcT	p.A318A	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	318						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CATGGTACTGGGCTGTGATTG	0.517000														147			80		0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10291178	10291178	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10291178C>T	uc011atr.2	+	1	875	c.294C>T	c.(292-294)tcC>tcT	p.S98S	TATDN2_uc003bvg.2_Silent_p.S98S|TATDN2_uc003bvf.3_Silent_p.S98S|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	98						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGGCCGCCTCCAAAGGCTGCC	0.612000														174			60		0	0	1	0	0
C3orf25	90288	broad.mit.edu	37	3	129123158	129123158	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:129123158C>T	uc003emg.3	-	6	1501	c.1338G>A	c.(1336-1338)aaG>aaA	p.K446K		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						GAGAAAAGACCTTCCAGTCAG	0.572000														87			38		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61778406	61778406	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:61778406C>T	uc003xue.3	+	37	9400	c.8908C>T	c.(8908-8910)Ctc>Ttc	p.L2970F	CHD7_uc022aux.1_Missense_Mutation_p.L921F	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2970					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGAGTCCTCCCTCTTAGAAGA	0.488000														16			8		0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89052351	89052351	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:89052351C>T	uc003hrg.3	-	4	886	c.393G>A	c.(391-393)atG>atA	p.M131I	ABCG2_uc003hrh.3_Missense_Mutation_p.M131I|ABCG2_uc003hrf.3_Missense_Mutation_p.M1I	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	131	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TCAGAGTGCCCATCACAACAT	0.378000														111			23		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153585856	153585856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:153585856G>A	uc004fkk.2	-	28	5140	c.4891C>T	c.(4891-4893)Ccg>Tcg	p.P1631S	FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Missense_Mutation_p.P1631S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1631					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGCGGTACGGGGAGAAGGGG	0.652000														12			14		0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48266805	48266805	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:48266805C>T	uc001ngs.1	+	0	150	c.150C>T	c.(148-150)ccC>ccT	p.P50P		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P50P(2)|p.P50T(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TTGGTTCCCCCATGTACTTCT	0.488000														51			31		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328402	3328402	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3328402C>T	uc001akf.3	+	8	1723	c.1641C>T	c.(1639-1641)ctC>ctT	p.L547L	PRDM16_uc001ake.3_Silent_p.L547L|PRDM16_uc009vlh.3_Silent_p.L248L|PRDM16_uc001akc.3_Silent_p.L547L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	547	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACGCCAAGCTCCCCAGTCCCC	0.682000			T	EVI1	"""MDS, AML"""									105			47		0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543331	182543331	+	Missense_Mutation	SNP	G	A	A	rs147793698	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:182543331G>A	uc021vto.1	-	0	257	c.257C>T	c.(256-258)cCc>cTc	p.P86L	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.P86L|NEUROD1_uc021vtn.1_Missense_Mutation_p.P86L	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	86					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTTCTTTTTGGGGCCGCGTCT	0.562000														35			7		0	0	1	0	0
KLRD1	3824	broad.mit.edu	37	12	10464155	10464155	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10464155C>T	uc009zhi.3	+	3	516	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	KLRD1_uc001qxw.4_Missense_Mutation_p.R86W|KLRD1_uc001qxx.4_Missense_Mutation_p.R86W|KLRD1_uc001qxy.4_Missense_Mutation_p.R55W|KLRD1_uc009zhh.3_Missense_Mutation_p.R65W|KLRD1_uc001qxz.4_Missense_Mutation_p.R86W			Q13241	KLRD1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily D, member 1 (KLRD1), transcript variant 1, mRNA.	86	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						GAACGAAAGTCGGCATCTCTG	0.438000														82			19		0	0	1	0	0
ALOX5AP	241	broad.mit.edu	37	13	31318223	31318223	+	Missense_Mutation	SNP	G	A	A	rs146973182		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:31318223G>A	uc010tdr.2	+	2	516	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	ALOX5AP_uc001utf.2_Missense_Mutation_p.E33K	NM_001204406	NP_001191335	P20292	AL5AP_HUMAN	Homo sapiens arachidonate 5-lipoxygenase-activating protein (ALOX5AP), transcript variant 2, mRNA.	33					cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		AGTGGAGCACGAAAGCAGGAC	0.498000														56			7		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102645	22102645	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22102645G>A	uc010tmc.2	-	0	354	c.354C>T	c.(352-354)ttC>ttT	p.F118F		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGGTGTAGAGGAAGCACTGGG	0.502000														22			10		0	0	1	0	0
CLDN22	53842	broad.mit.edu	37	4	184241084	184241084	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:184241084C>T	uc010isa.1	-	0	844	c.288G>A	c.(286-288)ctG>ctA	p.L96L	WWC2_uc010irx.3_3'UTR|WWC2_uc003ivk.4_3'UTR|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_3'UTR|WWC2_uc003ivn.4_3'UTR|WWC2_uc010irz.3_3'UTR|WWC2_uc003ivo.4_3'UTR	NM_001111319	NP_001104789	Q8N7P3	CLD22_HUMAN	Homo sapiens claudin 22 (CLDN22), mRNA.	96					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		ACCCAGAGACCAGCAGGCCCA	0.527000														37			13		0	0	1	0	0
CCDC50	152137	broad.mit.edu	37	3	191107287	191107287	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:191107287C>T	uc003fsv.3	+	10	1915	c.1325C>T	c.(1324-1326)cCa>cTa	p.P442L	CCDC50_uc003fsw.3_Missense_Mutation_p.P266L	NM_178335	NP_848018	Q8IVM0	CCD50_HUMAN	Homo sapiens coiled-coil domain containing 50 (CCDC50), transcript variant 2, mRNA.	266						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		CCTTTTAGGCCACCACCACCT	0.418000														148			65		0	0	1	0	0
KRBA2	124751	broad.mit.edu	37	17	8272584	8272584	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:8272584G>A	uc002glf.1	-	1	1353	c.1347C>T	c.(1345-1347)agC>agT	p.S449S	KRBA2_uc002glg.1_Silent_p.S366S	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	Homo sapiens KRAB-A domain containing 2 (KRBA2), mRNA.	449					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TGATCCAAAGGCTATTTTCTA	0.468000														84			56		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14812856	14812856	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:14812856G>A	uc003zlm.3	-	16	3663	c.2847C>T	c.(2845-2847)ttC>ttT	p.F949F	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	949					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTCTCTGAGAGAACTGATCCA	0.498000														172			25		0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799148	133799149	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:133799148_133799149CC>TT	uc004bzz.3	-	3	1076_1077	c.831_832GG>AA	c.(829-834)acggac>acAAac	p.D278N	FIBCD1_uc011mcc.2_Missense_Mutation_p.D278N	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	278	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CCGCCGCCGTCCGTGCGCATGT	0.673000														25			8		0	0	1	0	0
TRIM7	81786	broad.mit.edu	37	5	180625718	180625718	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:180625718G>T	uc003mmz.1	-	4	1027	c.960C>A	c.(958-960)gtC>gtA	p.V320V	TRIM7_uc003mmv.1_Silent_p.V138V|TRIM7_uc003mmw.1_Silent_p.V112V|TRIM7_uc003mmy.1_Silent_p.V112V|TRIM7_uc003mmx.1_Silent_p.V112V	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	320						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TCCCTTTTAAGACAAAGGTCT	0.537000														53			12		6.72482e-11	6.7498e-11	1	1	0
GTF3C6	112495	broad.mit.edu	37	6	111283616	111283616	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:111283616A>T	uc003pum.3	+	4	479	c.269A>T	c.(268-270)aAa>aTa	p.K90I		NM_138408	NP_612417	Q969F1	TF3C6_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 6, alpha 35kDa (GTF3C6), mRNA.	90						transcription factor TFIIIC complex	DNA binding|protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		GGCAATAATAAAACAGTGCTA	0.348000														16			12		0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115829395	115829395	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:115829395G>A	uc021osd.1	-	0	22	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	NGF_uc001efu.1_Silent_p.L8L	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	8					Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GCTGTGATCAGAGTGTAGAAC	0.478000														80			34		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175048543	175048543	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175048543G>A	uc001gkl.1	+	2	597	c.484G>A	c.(484-486)Gag>Aag	p.E162K	TNN_uc010pmx.1_Missense_Mutation_p.E162K	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	162					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAGGGCAGGGAGGGCCCCGC	0.711000														7			15		0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123267179	123267179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:123267179C>T	uc003vku.1	+	8	1005	c.713C>T	c.(712-714)gCt>gTt	p.A238V	ASB15_uc003vkv.1_Missense_Mutation_p.A238V|ASB15_uc003vkw.1_Missense_Mutation_p.A238V	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	238					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GATGTGCTTGCTTTGGCGGAT	0.507000														107			20		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172766859	172766859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:172766859C>T	uc003fin.4	-	2	822	c.638G>A	c.(637-639)gGa>gAa	p.G213E		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	213					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AAATGGTTCTCCCAGAACTGC	0.348000														38			12		0	0	1	0	0
CLDN6	9074	broad.mit.edu	37	16	3065728	3065728	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3065728G>A	uc021tbb.1	-	0	295	c.295C>T	c.(295-297)Ctt>Ttt	p.L99F	CLDN6_uc002csu.4_Missense_Mutation_p.L99F	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	99					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GCCCCAGCAAGGTAGACCAGC	0.612000														45			16		0	0	1	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238552	71238552	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:71238552C>T	uc001oqq.1	+	0	240	c.206C>T	c.(205-207)tCc>tTc	p.S69F		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	Homo sapiens keratin associated protein 5-7 (KRTAP5-7), mRNA.	69	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GGCTGTGGCTCCTGTGGGGGC	0.652000														254			57		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40710658	40710658	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:40710658C>T	uc002xkg.3	-	30	4321	c.4137_splice	c.e30-1	p.L1379_splice	PTPRT_uc010ggj.3_Splice_Site_p.L1398_splice|PTPRT_uc010ggi.3_Splice_Site_p.L582_splice	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1379	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCCCCCATTTCTAAACACAGA	0.498000														75			20		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84607827	84607827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:84607827G>A	uc004amn.3	+	3	2489	c.2442G>A	c.(2440-2442)ggG>ggA	p.G814G		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	814						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						ATCTGTCAGGGAATGACTCAG	0.453000														42			24		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71891540	71891540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71891540C>T	uc010fen.3	+	45	5287	c.5146C>T	c.(5146-5148)Cgc>Tgc	p.R1716C	DYSF_uc010fei.3_Missense_Mutation_p.R1694C|DYSF_uc010feh.3_Missense_Mutation_p.R1684C|DYSF_uc002sig.4_Missense_Mutation_p.R1663C|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R1708C|DYSF_uc010fee.3_Missense_Mutation_p.R1698C|DYSF_uc010fef.3_Missense_Mutation_p.R1715C|DYSF_uc002sie.3_Missense_Mutation_p.R1677C|DYSF_uc010feo.3_Missense_Mutation_p.R1709C|DYSF_uc010fej.3_Missense_Mutation_p.R1685C|DYSF_uc010fel.3_Missense_Mutation_p.R1664C|DYSF_uc010fem.3_Missense_Mutation_p.R1699C|DYSF_uc002sif.3_Missense_Mutation_p.R1678C|DYSF_uc010fek.3_Missense_Mutation_p.R1695C|DYSF_uc010yqy.2_Missense_Mutation_p.R558C|DYSF_uc010yqz.2_Missense_Mutation_p.R438C	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1677						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTTTGGGGCTCGCTGTGGACT	0.552000														45			22		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65264525	65264525	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:65264525G>A	uc001xht.3	-	8	1155	c.1104C>T	c.(1102-1104)acC>acT	p.T368T	SPTB_uc001xhr.3_Silent_p.T368T|SPTB_uc001xhs.3_Silent_p.T368T|SPTB_uc001xhu.3_Silent_p.T368T	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	368					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGGACTGGATGGTAAAAAGTA	0.428000														129			14		0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57313798	57313798	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57313798G>A	uc021qjh.1	+	4	1168	c.1166G>A	c.(1165-1167)cGa>cAa	p.R389Q		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	389										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GAGTGGTGCCGAGCCATGACA	0.622000														16			5		0	0	1	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800531	74800531	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:74800531G>A	uc010rro.2	-	0	228	c.228C>T	c.(226-228)atC>atT	p.I76I		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	76					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						TGGTGAAAAGGATGTCCAAGG	0.527000														43			16		0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890739	55890739	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55890739G>A	uc001nii.1	+	0	891	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ACAGAGAAGTGAAAAATGCTC	0.363000														126			63		0	0	1	0	0
PCDHB17	54661	broad.mit.edu	37	5	140536603	140536603	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140536603G>A	uc003lis.3	+	0	1024	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N						Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA.																		GGATATAAACGACAACGCACC	0.448000														6			4		0	0	1	0	0
CYB561D1	284613	broad.mit.edu	37	1	110038505	110038505	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110038505C>T	uc010ovo.2	+	2	441	c.380C>T	c.(379-381)gCt>gTt	p.A127V	CYB561D1_uc010ovl.2_Missense_Mutation_p.A48V|CYB561D1_uc010ovm.2_Missense_Mutation_p.A47V|CYB561D1_uc001dxu.3_3'UTR|CYB561D1_uc001dxw.3_3'UTR|CYB561D1_uc010ovn.2_Missense_Mutation_p.A105V|CYB561D1_uc009wfd.3_Missense_Mutation_p.A54V|CYB561D1_uc010ovp.2_Missense_Mutation_p.A39V	NM_001134400	NP_001127872	Q8N8Q1	C56D1_HUMAN	Homo sapiens cytochrome b-561 domain containing 1 (CYB561D1), transcript variant 1, mRNA.	105	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CTCTGTGCAGCTCTGGGCCTG	0.612000														131			57		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11718434	11718434	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:11718434C>T	uc002rbk.1	+	5	949	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	GREB1_uc002rbl.3_Missense_Mutation_p.R217W|GREB1_uc002rbm.3_Missense_Mutation_p.R107W|GREB1_uc002rbn.1_Missense_Mutation_p.R217W	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	217						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GTTTAGAAGCCGGCAGATCCC	0.577000														131			79		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166221716	166221716	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166221716G>A	uc002udc.3	+	17	3753	c.3463G>A	c.(3463-3465)Gaa>Aaa	p.E1155K	SCN2A_uc002udd.3_Missense_Mutation_p.E1155K|SCN2A_uc002ude.3_Missense_Mutation_p.E1155K	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1155					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CGCCGAGGGAGAACAGCCTGA	0.413000														77			23		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149477866	149477866	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149477866G>A	uc010lpk.3	+	13	1638	c.1638_splice	c.e13-1	p.C546_splice	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	546					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGTGCCCACAGCGTGTGCAGG	0.657000														10			5		0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887209	47887209	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:47887209G>A	uc002xui.3	-	2	1387	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	380							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAGGTCTGACGAAATCTTCTC	0.468000														83			40		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31302378	31302378	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:31302378C>T	uc003jhe.2	+	5	1332	c.972C>T	c.(970-972)acC>acT	p.T324T	CDH6_uc003jhd.2_Silent_p.T324T	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	324	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACCAGGAAACCCAGGAAGGGA	0.463000														50			18		0	0	1	0	0
KRT81	3887	broad.mit.edu	37	12	52685159	52685159	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52685159G>A	uc001sab.3	-	0	141	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	KRT86_uc010snq.2_Intron|KRT86_uc009zmg.3_Intron|KRT81_uc001sac.3_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	Homo sapiens keratin 81 (KRT81), mRNA.	31	Head.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCACGGTAGGGGGCGGCGGTG	0.716000														14			5		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76427474	76427474	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:76427474G>A	uc021rkq.1	+	27	4946	c.4611G>A	c.(4609-4611)ccG>ccA	p.P1537P	LMO7_uc010thv.2_Silent_p.P1255P|LMO7_uc001vjv.3_Silent_p.P1304P|LMO7_uc010thw.2_Silent_p.P1181P	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1589						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CCCCCACCCCGAGAAGCCATT	0.577000														72			17		0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121107018	121107018	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:121107018C>T	uc002tmn.2	+	1	838	c.792C>T	c.(790-792)ttC>ttT	p.F264F		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	264					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TGCCGGTGTTCGTGGACCCAG	0.667000														91			37		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514953	233514953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233514953C>T	uc001hvt.4	+	8	2462	c.2201C>T	c.(2200-2202)gCt>gTt	p.A734V	KIAA1804_uc001hvu.4_Missense_Mutation_p.A180V	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	734					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GCATCGGTGGCTCTGGGACTG	0.527000														70			25		0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89256747	89256747	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89256747C>T	uc002fmt.3	+	7	1152	c.1075C>T	c.(1075-1077)Cag>Tag	p.Q359*		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	359	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TGAGCGGGGCCAGGCCAAGGT	0.647000														20			9		0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045526	142045526	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142045526C>T	uc003vxp.4	+	1	163	c.54C>T	c.(52-54)ccC>ccT	p.P18P	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CCGCAGTCCCCATGGAAACGG	0.478000														150			45		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701045	192701045	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:192701045G>A	uc002utb.3	-	1	1237	c.882C>T	c.(880-882)ccC>ccT	p.P294P		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	294						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CGAAAGTGAGGGGAGAAACCT	0.473000														180			61		0	0	1	0	0
FBXO9	26268	broad.mit.edu	37	6	52962573	52962573	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:52962573C>T	uc021zas.1	+	11	1340	c.1289C>T	c.(1288-1290)cCc>cTc	p.P430L	FBXO9_uc021zao.1_Missense_Mutation_p.P310L|FBXO9_uc021zap.1_Missense_Mutation_p.P310L|FBXO9_uc021zaq.1_Missense_Mutation_p.P420L|FBXO9_uc021zar.1_Missense_Mutation_p.P310L	NM_012347	NP_036479	Q9UK97	FBX9_HUMAN	Homo sapiens F-box protein 9 (FBXO9), transcript variant 1, mRNA.	430						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					ATGTACACCCCCTTGTTCTTC	0.403000														26			7		0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112357	248112357	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248112357C>T	uc001idt.1	+	0	198	c.198C>T	c.(196-198)tcC>tcT	p.S66S	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTCAGCTCTCCCTCATTGACC	0.438000														391			129		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57963926	57963926	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57963926A>T	uc001sor.1	+	11	1482	c.1274A>T	c.(1273-1275)tAt>tTt	p.Y425F	KIF5A_uc010srr.1_Missense_Mutation_p.Y336F	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	425					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CGCCGTCTCTATAAGCAGCTT	0.572000														16			7		0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182497	100182497	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:100182497G>A	uc001ygo.3	+	8	868	c.868G>A	c.(868-870)Gag>Aag	p.E290K	CYP46A1_uc001ygp.3_Missense_Mutation_p.E137K	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	290					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	p.D289N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CCAGGACGACGAGGGTCTGCT	0.522000														89			21		0	0	1	0	0
MYCL1	4610	broad.mit.edu	37	1	40363568	40363568	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:40363568C>T	uc001cer.2	-	2	788	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	MYCL1_uc001ces.2_Missense_Mutation_p.V191M	NM_001033082	NP_001028253	P12524	MYCL1_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian) (MYCL1), transcript variant 2, mRNA.	191						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			liver(1)|lung(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCTGCTCGCACCGTGATGGTG	0.502000			A		small cell lung									91			22		0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179544834	179544834	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179544834C>T	uc001gmq.4	-	0	251	c.166G>A	c.(166-168)Gag>Aag	p.E56K	NPHS2_uc009wxi.3_Missense_Mutation_p.E56K	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	56					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GCTCGGGGCTCCCCCGGGGTC	0.771000														8			8		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134896090	134896090	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:134896090G>A	uc001llw.3	+	5	1176	c.1176G>A	c.(1174-1176)agG>agA	p.R392R				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ACTTGGGGAGGGGAGGCCTTT	0.587000														26			6		0	0	1	0	0
ST7L	54879	broad.mit.edu	37	1	113084621	113084621	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:113084621G>A	uc001ecd.3	-	13	1886	c.1581C>T	c.(1579-1581)gcC>gcT	p.A527A	ST7L_uc009wgh.3_Non-coding_Transcript|ST7L_uc001ecc.3_Silent_p.A344A|ST7L_uc010owg.2_Silent_p.A462A|ST7L_uc010owh.2_Silent_p.A321A|ST7L_uc001ecf.3_Silent_p.A510A|ST7L_uc001ece.3_Silent_p.A496A|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_Silent_p.A462A|ST7L_uc001ech.3_Silent_p.A510A|ST7L_uc001eci.3_Silent_p.A527A|ST7L_uc009wgi.1_Non-coding_Transcript	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA.	527					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTGAGAATGGCTATCATTG	0.378000														69			22		0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43473424	43473424	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:43473424G>A	uc002iix.3	-	14	1737	c.1288C>T	c.(1288-1290)Ctg>Ttg	p.L430L	ARHGAP27_uc010dak.3_Silent_p.L403L	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA.	771	WW 3.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					AAGAGCTTCAGGGCTCCGGTG	0.632000														38			6		0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71499399	71499399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:71499399G>A	uc003xyo.2	-	6	843	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	TRAM1_uc011lfc.2_Missense_Mutation_p.R164C	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Homo sapiens translocation associated membrane protein 1 (TRAM1), mRNA.	195	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			ACAAGCTGACGAGGAATATCT	0.398000														54			20		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234621899	234621899	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234621899G>A	uc002vuw.3	+	0	262	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Missense_Mutation_p.E88K	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	87					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GACCCAGGACGAATTTGATCG	0.428000														113			53		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562977	145562977	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:145562977G>A	uc001eob.1	+	9	2773	c.2665G>A	c.(2665-2667)Gcc>Acc	p.A889T	ANKRD35_uc010oyx.1_Missense_Mutation_p.A732T	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	889										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGCTCAGGCAGCCGAACAAGA	0.647000														38			15		0	0	1	0	0
TNNT1	7138	broad.mit.edu	37	19	55652271	55652271	+	Missense_Mutation	SNP	C	T	T	rs150477069		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55652271C>T	uc002qjb.4	-	8	456	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	TNNT1_uc002qjc.4_Missense_Mutation_p.E123K|TNNT1_uc002qje.4_Missense_Mutation_p.E112K|TNNT1_uc002qjd.4_Missense_Mutation_p.E112K|TNNT1_uc002qjf.2_Missense_Mutation_p.E119K	NM_003283	NP_003274	P13805	TNNT1_HUMAN	Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.	123					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GCCTGACGTTCGCGTTCCTTC	0.552000														50			39		0	0	1	0	0
FFAR2	2867	broad.mit.edu	37	19	35940700	35940700	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35940700C>T	uc002nzg.2	+	1	164	c.84C>T	c.(82-84)gcC>gcT	p.A28A	FFAR2_uc010eea.3_Silent_p.A28A	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	28						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCTCCTGGCCCTGCGGGCCT	0.632000														79			14		0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12856867	12856867	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:12856867G>A	uc003bxk.2	+	7	1283	c.1234G>A	c.(1234-1236)Gga>Aga	p.G412R	CAND2_uc003bxj.2_Missense_Mutation_p.G319R	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	412					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCCCCGAAGGGATGGCTGGA	0.612000														62			23		0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77951244	77951244	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:77951244G>A	uc001xtz.3	-	1	234	c.160C>T	c.(160-162)Cct>Tct	p.P54S	ISM2_uc001xua.3_Missense_Mutation_p.P54S|ISM2_uc001xty.3_5'UTR	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	54						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						AGAGGCCTAGGATCTGGGGAG	0.607000														73			7		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940669	113940669	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113940669G>A	uc002tjc.3	+	1	819	c.636G>A	c.(634-636)ggG>ggA	p.G212G	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.G211G|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	212					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.G212V(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGACTCAGGGGAAGACAGCA	0.637000														35			8		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110448612	110448612	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110448612C>T	uc003yne.3	+	29	3655	c.3551C>T	c.(3550-3552)tCa>tTa	p.S1184L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1184	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S1186L(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)			AATGAAAATTCAAAGGTATTA	0.348000										HNSCC(38;0.096)				51			21		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15065098	15065098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15065098G>A	uc002naa.1	-	6	1220	c.1213C>T	c.(1213-1215)Ctg>Ttg	p.L405L	SLC1A6_uc010dzu.1_Silent_p.L327L|SLC1A6_uc010xod.1_Silent_p.L341L	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	405					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TCCACACCCAGGCCCTCCTCC	0.687000														60			33		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61559014	61559014	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61559014G>A	uc002jau.2	+	6	1067	c.1033G>A	c.(1033-1035)Ggg>Agg	p.G345R	ACE_uc010wpi.2_Missense_Mutation_p.G345R|ACE_uc010ddu.2_Missense_Mutation_p.G162R	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	345	Peptidase M2 1.				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)	GTTCTGGGAAGGGTCGATGCT	0.622000														50			34		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46312191	46312191	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:46312191G>A	uc011bzc.1	-	5	806	c.394_splice	c.e5+1	p.Y132_splice	GABRA2_uc003gxc.3_Splice_Site_p.Y187_splice|GABRA2_uc010igc.2_Splice_Site_p.Y187_splice|GABRA2_uc003gxe.3_Splice_Site_p.Y187_splice			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	187					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTACTTACAGCTGCCAAATT	0.393000														93			7		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124117644	124117644	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124117644G>A	uc003ehg.3	+	12	2393	c.2266G>A	c.(2266-2268)Gag>Aag	p.E756K	KALRN_uc010hrv.1_Missense_Mutation_p.E756K|KALRN_uc003ehf.1_Missense_Mutation_p.E756K|KALRN_uc011bjy.1_Missense_Mutation_p.E756K|KALRN_uc003ehh.1_Missense_Mutation_p.E102K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	756					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCAGATGGAGGAGCTGTTCCA	0.582000														86			33		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55284800	55284800	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55284800C>T	uc010erz.1	+	2	124	c.86C>T	c.(85-87)cCt>cTt	p.P29L	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.P29L	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	29					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CACAGAAAACCTTCCCTCCTG	0.507000														121			13		0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245220	46245220	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46245220C>T	uc003cph.1	-	1	656	c.585G>A	c.(583-585)tgG>tgA	p.W195*	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Nonsense_Mutation_p.W195*	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	195					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAAACAGCTTCCACTCTCGTA	0.468000														73			36		0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121434128	121434128	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:121434128C>T	uc001tzg.3	+	4	1042	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.P340L|HNF1A_uc001tzf.3_Missense_Mutation_p.P340L|HNF1A_uc010szn.2_Missense_Mutation_p.P340L|HNF1A_uc021rfa.1_Missense_Mutation_p.P340L|HNF1A_uc021rfb.1_Missense_Mutation_p.P212L|HNF1A_uc021rfc.1_Intron	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	340					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCGGCGGTCCCTTAGTGACA	0.617000									Hepatic Adenoma, Familial Clustering of					114			43		0	0	1	0	0
CIDEA	1149	broad.mit.edu	37	18	12277269	12277269	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:12277269G>A	uc002kqt.4	+	4	725	c.660G>A	c.(658-660)taG>taA	p.*220*	CIDEA_uc002kqu.4_Silent_p.*254*|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	0					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						CGTGTGGATAGGGATGCAGGC	0.527000														29			25		0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22974279	22974279	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:22974279C>T	uc003xcy.3	+	4	823	c.515C>T	c.(514-516)cCg>cTg	p.P172L	TNFRSF10C_uc011kzr.2_Non-coding_Transcript	NM_003841	NP_003832	O14798	TR10C_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA.	172					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		AACACCAGCCCGGGGACTCCT	0.562000														143			14		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154625688	154625688	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:154625688C>T	uc003inq.3	+	2	1848	c.1629C>T	c.(1627-1629)tcC>tcT	p.S543S	TLR2_uc003inr.3_Silent_p.S543S|TLR2_uc003ins.3_Silent_p.S543S|TLR2_uc021xtl.1_Silent_p.S543S	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	543					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				AATTCCTCTCCTTCACTCAGG	0.473000														37			22		0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974674	49974674	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:49974674G>A	uc010rhz.2	+	0	732	c.700G>A	c.(700-702)Gcc>Acc	p.A234T		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AAGGCACGAAGCCCTCTCTAC	0.468000														72			57		0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171911	68171911	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:68171911C>T	uc010dfg.3	+	1	1132	c.731C>T	c.(730-732)cCt>cTt	p.P244L	KCNJ2_uc002jir.3_Missense_Mutation_p.P244L|KCNJ2_uc021ucj.1_Missense_Mutation_p.P244L	NM_000891	NP_000882	P63252	IRK2_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 2 (KCNJ2), mRNA.	244					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GAGTATATCCCTCTGGATCAA	0.443000														70			24		0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634324	180634324	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:180634324G>A	uc002unn.4	-	2	763	c.159C>T	c.(157-159)tcC>tcT	p.S53S		NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	53						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			ATTTGCCGTTGGAATGCACCT	0.562000														65			19		0	0	1	0	0
LAPTM4B	55353	broad.mit.edu	37	8	98837319	98837319	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:98837319C>T	uc003yia.3	+	5	970	c.814C>T	c.(814-816)Cga>Tga	p.R272*	LAPTM4B_uc010mbg.3_Intron	NM_018407	NP_060877	Q86VI4	LAP4B_HUMAN	Homo sapiens lysosomal protein transmembrane 4 beta (LAPTM4B), mRNA.	325					transport	endomembrane system|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			GAACTGCTACCGATACATCAA	0.403000														88			9		0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169663986	169663986	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:169663986C>T	uc011bpp.2	-	1		c.3817G>A								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		CATACAAAGCCCTCGGCATGC	0.498000														110			9		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10435073	10435073	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10435073C>T	uc010coi.3	-	21	2702	c.2574G>A	c.(2572-2574)atG>atA	p.M858I	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.M858I|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	858					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATTCTTCCTTCATGGTGGCCA	0.423000														51			39		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64483905	64483905	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:64483905C>T	uc003jtp.3	-	21	3662	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	950	TSP type-1 3.				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)		GGCTCTTTTTCGACAGGCCGG	0.507000														135			52		0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58148147	58148147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:58148147C>T	uc002iyk.1	-	5	738	c.721G>A	c.(721-723)Ggt>Agt	p.G241S	HEATR6_uc010wos.1_Missense_Mutation_p.G73S	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	241							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GACTGTATACCTTTTAATGCA	0.403000														65			25		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921522	24921522	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24921522G>A	uc001ywo.3	+	0	982	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	170					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)		GGTGCAGATCGAAGGGGAGGA	0.617000														33			15		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677847	3677847	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3677847G>A	uc002wja.3	-	8	2265	c.2265C>T	c.(2263-2265)ccC>ccT	p.P755P	SIGLEC1_uc002wiz.4_Silent_p.P755P	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	755	Ig-like C2-type 7.				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						CGGTCTCCAGGGGACCCTGGG	0.632000														58			24		0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4944978	4944978	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4944978G>A	uc010qyr.2	-	0	592	c.592C>T	c.(592-594)Cac>Tac	p.H198Y		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATAGATGTGATTGACAATG	0.532000														94			7		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594271	123594271	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:123594271G>A	uc003vle.3	+	2	1086	c.647G>A	c.(646-648)tGg>tAg	p.W216*	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Nonsense_Mutation_p.W216*|SPAM1_uc022aks.1_Nonsense_Mutation_p.W216*|SPAM1_uc003vlf.4_Nonsense_Mutation_p.W216*|SPAM1_uc010lku.3_Nonsense_Mutation_p.W216*	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	216					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	p.W216C(1)		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)	AATCACTTGTGGGGTTATTAT	0.373000														104			34		0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121356074	121356074	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121356074C>T	uc003eeh.4	-	6	609	c.484G>A	c.(484-486)Ggg>Agg	p.G162R	HCLS1_uc011bjj.2_Intron|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	162					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	p.Y161Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TTCTCCACCCCGTACCGGCCA	0.557000														100			32		0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55907804	55907804	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:55907804C>T	uc021tir.1	-	2	452	c.306G>A	c.(304-306)acG>acA	p.T102T	CES5A_uc002eip.2_Silent_p.T73T|CES5A_uc002eio.2_Silent_p.T73T|CES5A_uc002eiq.2_5'UTR|CES5A_uc002eir.2_5'UTR	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	73						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GCTGCGGGTTCGTAAATCGCA	0.592000														14			8		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42474456	42474456	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42474456G>A	uc002osh.3	-	17	2577	c.2423C>T	c.(2422-2424)cCt>cTt	p.P808L	ATP1A3_uc010xwf.2_Missense_Mutation_p.P819L|ATP1A3_uc010xwg.2_Missense_Mutation_p.P778L|ATP1A3_uc002osg.3_Missense_Mutation_p.P808L|ATP1A3_uc010xwh.2_Missense_Mutation_p.P821L			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	808					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGAGATGGCAGGGACCTAGGC	0.632000														36			15		0	0	1	0	0
NF1P2	440225	broad.mit.edu	37	15	22143278	22143278	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22143278C>T	uc010tzs.1	-	3		c.309_splice	c.e3-1		abParts_uc001yuj.2_Intron					Homo sapiens neurofibromin 1 pseudogene 2 (NF1P2), non-coding RNA.																		GCCAGTTCATCCTGAGAACAA	0.383000														56			7		0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205498689	205498689	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205498689C>T	uc001hcr.3	+	12	1571	c.1309C>T	c.(1309-1311)Ctg>Ttg	p.L437L	CDK18_uc001hcp.3_Silent_p.L407L|CDK18_uc001hcq.3_Silent_p.L407L|CDK18_uc010prj.2_Silent_p.L318L|CDK18_uc001hcs.3_Silent_p.L318L|CDK18_uc009xbm.1_Silent_p.L332L	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	405							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CAGCCTGCTCCTGGTGAGTGT	0.667000														44			12		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10713796	10713796	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:10713796G>A	uc001aro.3	-	10	2638	c.2318C>T	c.(2317-2319)tCg>tTg	p.S773L	CASZ1_uc001arp.1_Missense_Mutation_p.S773L|CASZ1_uc009vmx.2_Missense_Mutation_p.S797L	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	773					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CAGCAGCCCCGAGATCTTGCT	0.701000														39			19		0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961116	1961116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:1961116G>A	uc010gaj.3	-	2	860	c.618C>T	c.(616-618)cgC>cgT	p.R206R	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Silent_p.R206R|PDYN_uc021vzt.1_Silent_p.R206R|PDYN_uc021vzu.1_Silent_p.R206R|PDYN_uc002wfv.3_Silent_p.R206R	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	206					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.R206H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCCCCCATAGCGTTTGTACA	0.592000														138			53		0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7509157	7509157	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7509157C>T	uc002mgi.3	+	3	1117	c.864C>T	c.(862-864)gcC>gcT	p.A288A	ARHGEF18_uc010xjm.1_Silent_p.A130A|ARHGEF18_uc002mgh.3_Silent_p.A130A|ARHGEF18_uc002mgj.1_5'Flank	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	288	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				ACTCCAGGGCCCTGCAGGAGG	0.617000														51			19		0	0	1	0	0
GREM1	26585	broad.mit.edu	37	15	33023078	33023078	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:33023078G>A	uc001zhe.2	+	1	346	c.187G>A	c.(187-189)Ggg>Agg	p.G63R	GREM1_uc010uby.2_Intron|GREM1_uc001zhd.2_Intron|GREM1_uc021sio.1_Missense_Mutation_p.G63R	NM_013372	NP_037504	O60565	GREM1_HUMAN	Homo sapiens gremlin 1 (GREM1), transcript variant 1, mRNA.	63					negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity	p.Q62H(1)		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)		GCGGGGCCAAGGGCGGGGCAC	0.662000														49			11		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487353	63487353	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63487353C>T	uc001nxq.3	+	2	1566	c.1379C>T	c.(1378-1380)tCt>tTt	p.S460F	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Missense_Mutation_p.S348F|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.S441F|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	460					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAATGTGACTCTTTGGGTTCT	0.448000														89			37		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168265363	168265363	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:168265363C>T	uc021zik.1	+	1	431	c.112C>T	c.(112-114)Cga>Tga	p.R38*	MLLT4_uc003qwb.1_Nonsense_Mutation_p.R80*|MLLT4_uc003qwc.2_Nonsense_Mutation_p.R80*|MLLT4_uc021zij.1_Nonsense_Mutation_p.R80*|MLLT4_uc021zil.1_Non-coding_Transcript	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	80					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GGAGAAATTTCGACCTGATAT	0.453000			T	MLL	AL									114			100		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23896011	23896011	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23896011G>A	uc001wjx.3	-	17	2125	c.2019C>T	c.(2017-2019)atC>atT	p.I673I		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	673	Actin-binding.|Myosin head-like.			CII -> LYH (in Ref. 2; CAA37068).	adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATTAGGGATGATACAACGTA	0.493000														52			19		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66190265	66190265	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66190265G>A	uc001ohx.1	+	3	727	c.551G>A	c.(550-552)gGa>gAa	p.G184E	NPAS4_uc010rpc.1_Missense_Mutation_p.E11K	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	184					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						TACTGGGCAGGAAATCCCGTG	0.622000														92			41		0	0	1	0	0
CCT6B	10693	broad.mit.edu	37	17	33266229	33266229	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:33266229G>A	uc002hig.3	-	9	1302	c.1186C>T	c.(1186-1188)Cgt>Tgt	p.R396C	CCT6B_uc010ctg.3_Missense_Mutation_p.R359C|CCT6B_uc010wcc.2_Missense_Mutation_p.R351C	NM_006584	NP_006575	Q92526	TCPW_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6B (zeta 2) (CCT6B), transcript variant 1, mRNA.	396					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	p.R396C(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TTGATAGCACGAAGTCCATCT	0.363000														94			61		0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086338	56086338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56086338C>T	uc010rjf.2	+	0	556	c.556C>T	c.(556-558)Cct>Tct	p.P186S		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CCCTTTGTTACCTTTGCTTTG	0.328000														98			7		0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113588364	113588364	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:113588364C>T	uc003eaq.4	+	2	261	c.185C>T	c.(184-186)tCc>tTc	p.S62F	GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc011bim.1_Non-coding_Transcript	NM_017577	NP_001165576	Q8IYS0	GRM1C_HUMAN	Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA.	62						integral to membrane		p.S61G(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ATTTCAAGTTCCACCTATAAA	0.303000														88			34		0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2900696	2900696	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:2900696G>A	uc003mug.3	-	1	271	c.150C>T	c.(148-150)acC>acT	p.T50T	AY927512_uc003mue.3_Intron|SERPINB9_uc003muh.3_Silent_p.T50T	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	50					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TCTGGGTTGCGGTGTTTCCCT	0.582000														130			67		0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89733119	89733119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:89733119C>T	uc001dnc.3	-	4	946	c.409G>A	c.(409-411)Ggt>Agt	p.G137S	GBP5_uc001dnd.3_Missense_Mutation_p.G137S|GBP5_uc001dne.1_Missense_Mutation_p.G137S	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	137						plasma membrane	GTP binding|GTPase activity	p.G137A(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TCGATAGCACCCTGATCAATT	0.453000														45			19		0	0	1	0	0
MBL1P	8512	broad.mit.edu	37	10	81680793	81680793	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81680793G>A	uc021puw.1	+	3		c.636G>A			MBL1P_uc001kbg.1_Non-coding_Transcript					Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) pseudogene (LOC100288974), non-coding RNA.																		CAGGACCTAGGGGCCAAAAAG	0.602000														10			6		0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80203349	80203349	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:80203349C>T	uc003piy.3	-	4	1451	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	LCA5_uc003pix.3_Missense_Mutation_p.R280Q	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	280					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GTGATATAGTCGCTGTACCTC	0.308000														27			19		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073116	17073116	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17073116C>T	uc002zlp.1	-	0	585	c.325G>A	c.(325-327)Gtt>Att	p.V109I		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	109					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.V108M(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTCAGCAGAACCACGAAGGCT	0.657000														64			19		0	0	1	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420413	69420413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:69420413G>A	uc004afn.3	+	12	1415	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K		NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A4 (ANKRD20A4), mRNA.	435										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GAAGCTGAAGGAAGAGCATGA	0.358000														192			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348807	140348807	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140348807C>T	uc003lii.3	+	0	3061	c.2456C>T	c.(2455-2457)cCt>cTt	p.P819L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.P819L	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	819					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)			GGACCAGGGCCTTCGGGAGCC	0.522000														57			15		0	0	1	0	0
APOL6	80830	broad.mit.edu	37	22	36055574	36055574	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:36055574G>A	uc003aoe.3	+	2	1257	c.963G>A	c.(961-963)agG>agA	p.R321R	APOL6_uc003aod.3_Non-coding_Transcript	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	Homo sapiens apolipoprotein L, 6 (APOL6), mRNA.	321					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						AGGAGTTAAGGGAGCATGTGT	0.507000														58			10		0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169108548	169108548	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169108548T>G	uc003irm.3	+	11	1102	c.938T>G	c.(937-939)cTg>cGg	p.L313R	ANXA10_uc003irn.3_Missense_Mutation_p.L185R	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	313							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AAGAAAGCACTGCTTGCCATC	0.338000														57			17		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29587275	29587275	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:29587275A>T	uc001bru.3	+	6	1133	c.1004A>T	c.(1003-1005)cAc>cTc	p.H335L	PTPRU_uc009vtq.3_Missense_Mutation_p.H335L|PTPRU_uc009vtr.3_Missense_Mutation_p.H335L|PTPRU_uc001brw.3_Missense_Mutation_p.H335L	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	335	Fibronectin type-III 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCTGAGGTGCACGCCGTCAGC	0.642000														44			24		0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118986957	118986957	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118986957C>T	uc001pvn.3	+	13	2474	c.2115C>T	c.(2113-2115)ccC>ccT	p.P705P	C2CD2L_uc001pvo.3_Silent_p.P704P	NM_014807	NP_055622	O14523	C2C2L_HUMAN	Homo sapiens C2CD2-like (C2CD2L), mRNA.	704						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						ACCCCAGCCCCCAGCTCTGAG	0.597000														50			14		0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123285917	123285917	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:123285917C>T	uc001udc.3	+	8	1386	c.1224C>T	c.(1222-1224)aaC>aaT	p.N408N	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Silent_p.N169N|CCDC62_uc021rfn.1_Silent_p.N223N	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	408						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AGAAACACAACCTCCCTTGGT	0.413000														40			9		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36130328	36130328	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:36130328G>A	uc003gsq.2	-	20	3805	c.3467C>T	c.(3466-3468)cCt>cTt	p.P1156L		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1156	Rho-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						TATATGCAAAGGATCACCATT	0.328000														55			16		0	0	1	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671667	112671667	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:112671667G>A	uc003pvx.1	+	2	1069	c.757G>A	c.(757-759)Ggg>Agg	p.G253R	RFPL4B_uc021zdy.1_Missense_Mutation_p.G253R	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	Homo sapiens ret finger protein-like 4B (RFPL4B), mRNA.	253	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CTTGGGAGAAGGGGAGAGTGG	0.448000														44			18		0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51696586	51696586	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51696586G>A	uc002aba.3	+	9	1460	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	GLDN_uc002abb.3_Missense_Mutation_p.E307K	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	431	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AGCTGTAGATGAAAAGGGCCT	0.418000														153			60		0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43716295	43716295	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43716295C>T	uc011aev.2	+	14	1937	c.1863C>T	c.(1861-1863)atC>atT	p.I621I	ABCG1_uc002zam.3_Silent_p.I576I|ABCG1_uc002zan.3_Silent_p.I600I|ABCG1_uc002zao.3_Silent_p.I595I|ABCG1_uc002zap.3_Silent_p.I598I|ABCG1_uc002zaq.3_Silent_p.I610I|ABCG1_uc002zar.3_Silent_p.I609I|AL355711_uc002zau.3_5'Flank	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	610	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	AAGGGGTCATCCTCTCCATCT	0.592000														55			24		0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28598868	28598868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:28598868C>T	uc001bps.3	+	3	824	c.428C>T	c.(427-429)cCt>cTt	p.P143L		NM_031459	NP_113647	P58004	SESN2_HUMAN	Homo sapiens sestrin 2 (SESN2), mRNA.	143					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGTGACCCTGAGTGGCTG	0.622000														128			21		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9018484	9018484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9018484G>A	uc002mkp.3	-	23	37894	c.37690C>T	c.(37690-37692)Cct>Tct	p.P12564S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12566	SEA 4.				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						CTGGAGCCAGGGCGATGCATG	0.542000														151			49		0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927463	55927463	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55927463C>T	uc010rja.2	-	0	331	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATGAAAAATTCACTGATAATG	0.418000														117			12		0	0	1	0	0
SYNGR3	9143	broad.mit.edu	37	16	2042728	2042728	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2042728G>A	uc002cod.3	+	2	587	c.429G>A	c.(427-429)ggG>ggA	p.G143G	TCRBV20S1_uc021tak.1_Intron	NM_004209	NP_004200	O43761	SNG3_HUMAN	Homo sapiens synaptogyrin 3 (SYNGR3), mRNA.	143	MARVEL.				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle				endometrium(1)|lung(2)	3						CGCAGGCGGGGGACGCGGCGC	0.716000														7			7		0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682678	140682678	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140682678G>A	uc003ljf.3	-	0	935	c.755C>T	c.(754-756)aCc>aTc	p.T252I		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	252					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	ACTTAAGAGGGTACCAATAAA	0.428000														48			17		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176992706	176992706	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176992706C>T	uc001glc.3	-	7	1483	c.1271_splice	c.e7-1	p.G424_splice	ASTN1_uc001glb.1_Splice_Site_p.G424_splice|ASTN1_uc001gld.1_Splice_Site_p.G424_splice|ASTN1_uc009wwx.1_Splice_Site_p.G424_splice|ASTN1_uc001gle.4_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	424					cell migration|neuron cell-cell adhesion	integral to membrane		p.G424G(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGAAGCGGCTCCCTGCAGGGT	0.552000														26			5		0	0	1	0	0
HOXB13	10481	broad.mit.edu	37	17	46805705	46805705	+	Missense_Mutation	SNP	C	T	T	rs138213197	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:46805705C>T	uc002ioa.3	-	0	407	c.251G>A	c.(250-252)gGa>gAa	p.G84E		NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	84					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GTACCCGCCTCCAAAGTAACC	0.687000														70			12		0	0	1	0	0
LRRC14	9684	broad.mit.edu	37	8	145745326	145745326	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145745326C>A	uc003zdk.2	+	1	391	c.217C>A	c.(217-219)Cgt>Agt	p.R73S	RECQL4_uc003zdj.3_5'Flank|LRRC14_uc003zdl.2_Missense_Mutation_p.R73S	NM_014665	NP_055480	Q15048	LRC14_HUMAN	Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.	73										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCACTGCAGCCGTGCCCTCCT	0.627000														68			16		2.35188e-11	2.36087e-11	1	1	0
SLC28A1	9154	broad.mit.edu	37	15	85486685	85486685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:85486685G>A	uc002blg.3	+	15	1793	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	SLC28A1_uc010bnb.3_Missense_Mutation_p.E531K|SLC28A1_uc010upe.2_Missense_Mutation_p.E365K|SLC28A1_uc010upf.1_Missense_Mutation_p.E531K|SLC28A1_uc010upg.1_Intron	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	531					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGTCAGAGCTGAAGTCCTCAC	0.537000														68			16		0	0	1	0	0
TCRBV12S3	0	broad.mit.edu	37	7	142206950	142206950	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142206950C>T	uc003vyj.2	-	0	58	c.11G>A	c.(10-12)aGg>aAg	p.R4K	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GAAGAAGAGCCTGGTGCCCAT	0.552000														39			13		0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6670901	6670901	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6670901G>A	uc021qtw.1	-	10	1304	c.1124C>T	c.(1123-1125)gCc>gTc	p.A375V	NOP2_uc009zeq.2_Missense_Mutation_p.A91V|NOP2_uc021qtx.1_Missense_Mutation_p.A375V	NM_001033714	NP_006161	P46087	NOP2_HUMAN	Homo sapiens NOP2 nucleolar protein homolog (yeast) (NOP2), transcript variant 2, mRNA.	379					positive regulation of cell proliferation|rRNA processing	nucleolus	RNA binding|S-adenosylmethionine-dependent methyltransferase activity|protein binding			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GGGTGCCAAGGCCATGACGGG	0.607000														22			4		0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077314	19077314	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:19077314G>A	uc001mph.3	-	1	724	c.636C>T	c.(634-636)ggC>ggT	p.G212G	MRGPRX2_uc021qer.1_Silent_p.G212G	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	212					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GACCCCTGGAGCCACAGAGGA	0.547000														43			26		0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150714259	150714259	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150714259C>T	uc011kvc.2	-	8	2229	c.2153G>A	c.(2152-2154)tGg>tAg	p.W718*	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	718					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		p.W718C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGGGGCGCCAGAGTGGATG	0.652000														18			9		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54661819	54661819	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:54661819C>T	uc003dhf.3	+	9	1017	c.969C>T	c.(967-969)ttC>ttT	p.F323F	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.F229F|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.F57F	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	323	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTCAGCACTTCAGGGAGCATC	0.418000														14			8		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36156555	36156555	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:36156555G>A	uc004ddk.1	+	9	1420	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	412						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						TACTCTTTATGAAATTGACTT	0.289000														14			27		0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29837733	29837733	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:29837733G>A	uc003afn.3	+	1	785	c.576G>A	c.(574-576)tgG>tgA	p.W192*	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	192	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GCACAGAATGGGACCTGGGAG	0.567000														129			44		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17012086	17012086	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17012086G>A	uc002nfb.3	-	35	4880	c.4848C>T	c.(4846-4848)tcC>tcT	p.S1616S	CPAMD8_uc002nfd.1_Silent_p.S81S	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1569						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGCCATATTGGAAGACCCTG	0.637000														21			4		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106431439	106431439	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:106431439C>T	uc003ymd.3	+	1	131	c.108C>T	c.(106-108)tcC>tcT	p.S36S		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	36					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACATCATCTCCAAAGGAGACT	0.408000														58			12		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48736816	48736816	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:48736816C>T	uc001zwx.2	-	48	6354	c.5959G>A	c.(5959-5961)Ggt>Agt	p.G1987S	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1987	EGF-like 34; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGACAGGTACCTGGTGCACAT	0.423000														125			33		0	0	1	0	0
FBLIM1	54751	broad.mit.edu	37	1	16097048	16097048	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16097048G>A	uc001axd.1	+	6	1129	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	FBLIM1_uc001axe.1_Missense_Mutation_p.R229Q|FBLIM1_uc001axg.1_Missense_Mutation_p.R229Q|FBLIM1_uc001axh.1_Missense_Mutation_p.R132Q|FBLIM1_uc001axi.1_Missense_Mutation_p.R132Q	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	229	LIM zinc-binding 1.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			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)		AAGGATGGGCGACCCCTCTGC	0.607000														39			16		0	0	1	0	0
CDR2	1039	broad.mit.edu	37	16	22358533	22358533	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:22358533G>A	uc002dkn.3	-	4	1426	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F		NM_001802	NP_001793	Q01850	CDR2_HUMAN	Homo sapiens cerebellar degeneration-related protein 2, 62kDa (CDR2), mRNA.	373						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		GTGTGACAGGGAGTCCTGTTC	0.592000														79			15		0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154960590	154960590	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154960590C>T	uc001fgf.2	+	1	783	c.382C>T	c.(382-384)Cag>Tag	p.Q128*	FLAD1_uc001fgc.3_Nonsense_Mutation_p.Q29*|FLAD1_uc001fgd.2_Nonsense_Mutation_p.Q128*|FLAD1_uc001fge.2_Nonsense_Mutation_p.Q31*|FLAD1_uc001fgg.2_Nonsense_Mutation_p.Q31*|FLAD1_uc021paj.1_Nonsense_Mutation_p.Q29*|FLAD1_uc001fgh.1_5'UTR	NM_025207	NP_958800	Q8NFF5	FAD1_HUMAN	Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA.	128	Molybdenum cofactor biosynthesis protein- like.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGACACACTCAGGACACCAA	0.562000														148			46		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20258009	20258009	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:20258009G>A	uc002wru.3	+	21	2817	c.2703G>A	c.(2701-2703)gcG>gcA	p.A901A	C20orf26_uc010zse.2_Silent_p.A881A|C20orf26_uc002wrw.3_Non-coding_Transcript	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	901										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)		ACCGGGATGCGATCCTGGCCC	0.632000														106			35		0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24730968	24730968	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24730968G>A	uc001wod.3	-	2	565	c.441C>T	c.(439-441)ttC>ttT	p.F147F	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	147					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GGAGCATATGGAAAGGCTGCC	0.592000														127			13		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96916161	96916161	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:96916161C>T	uc001yfn.2	+	8	937	c.893C>T	c.(892-894)cCt>cTt	p.P298L		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	298					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)		AATACTGGCCCTGGGAAAATC	0.353000														36			17		0	0	1	0	0
BABAM1	29086	broad.mit.edu	37	19	17382414	17382414	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17382414C>T	uc002nfu.3	+	2	412	c.294C>T	c.(292-294)tgC>tgT	p.C98C	BABAM1_uc010xpl.1_Silent_p.C98C|BABAM1_uc002nfv.3_Silent_p.C98C|BABAM1_uc010ean.2_Intron|BABAM1_uc002nfw.3_Silent_p.C98C	NM_014173	NP_054892	Q9NWV8	BABA1_HUMAN	Homo sapiens BRISC and BRCA1 A complex member 1 (BABAM1), transcript variant 2, mRNA.	98	VWFA-like.				G2/M transition DNA damage checkpoint|chromatin modification|double-strand break repair|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						AGATTATCTGCCTGGACCTGT	0.547000														21			9		0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102309921	102309921	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:102309921C>T	uc003knt.3	+	13	1637	c.1264C>T	c.(1264-1266)Ctg>Ttg	p.L422L	PAM_uc003knw.3_Silent_p.L422L|PAM_uc003kns.3_Intron|PAM_uc003knu.3_Silent_p.L422L|PAM_uc011cuz.2_Silent_p.L325L|PAM_uc003knv.3_Silent_p.L422L|PAM_uc003knx.1_Intron|PAM_uc003kny.1_Non-coding_Transcript	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	422	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	AGAGTCAGACCTGGTAGCTGA	0.423000														73			17		0	0	1	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814920	54814920	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:54814920C>T	uc002lgm.3	+	0	628	c.377C>T	c.(376-378)cCa>cTa	p.P126L						Homo sapiens biorientation of chromosomes in cell division 1 pseudogene (BOD1P), non-coding RNA.																		GTGGTGGATCCAAAACTAAAC	0.502000														50			20		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94931643	94931643	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94931643G>A	uc003uns.3	-	7	880	c.783C>T	c.(781-783)tcC>tcT	p.S261S	PON1_uc011kih.2_Silent_p.S261S	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	261					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TAAAGTCAAGGGACTTAAAAG	0.378000														54			6		0	0	1	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74714293	74714293	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:74714293C>T	uc001jtf.1	-	0	218	c.151G>A	c.(151-153)Gat>Aat	p.D51N	PLA2G12B_uc009xqt.1_5'UTR|PLA2G12B_uc010qjz.1_Missense_Mutation_p.D51N	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	Homo sapiens phospholipase A2, group XIIB (PLA2G12B), mRNA.	51					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					AGAAAAGAATCGAAGTAGCTA	0.537000														179			71		0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162740180	162740180	+	Missense_Mutation	SNP	C	T	T	rs140710321	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:162740180C>T	uc001gcf.3	+	12	1847	c.1382C>T	c.(1381-1383)tCa>tTa	p.S461L	DDR2_uc001gcg.3_Missense_Mutation_p.S461L	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	461					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CGCTCCTCATCACCTAGTGAA	0.498000														117			55		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74332987	74332987	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:74332987G>A	uc011lsa.1	-	12	2816	c.2276C>T	c.(2275-2277)cCt>cTt	p.P759L	TMEM2_uc010mos.2_Missense_Mutation_p.P696L|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	759						integral to membrane		p.R758*(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATCCTGATGAGGTCGAAATCT	0.348000														103			13		0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55523928	55523928	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55523928C>T	uc010spe.2	+	0	376	c.376C>T	c.(376-378)Ctc>Ttc	p.L126F		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGTGGCCCAGCTCTTTCTCTT	0.468000														152			18		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53694273	53694273	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:53694273G>A	uc003dgv.4	+	4	900	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	CACNA1D_uc003dgu.4_Missense_Mutation_p.R246Q|CACNA1D_uc003dgy.4_Missense_Mutation_p.R246Q	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	246					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R246*(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CGAGTGTTGCGACCACTTCGA	0.478000														76			15		0	0	1	0	0
C11orf2	738	broad.mit.edu	37	11	64876880	64876880	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64876880C>T	uc001ocr.1	+	5	1612	c.1572C>T	c.(1570-1572)ctC>ctT	p.L524L	TM7SF2_uc001oct.3_5'Flank|TM7SF2_uc010rny.2_5'Flank|TM7SF2_uc001ocu.3_5'Flank|TM7SF2_uc001ocv.3_5'Flank|C11orf2_uc001ocs.1_Silent_p.L400L	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	524					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						CTGCCCTGCTCCTGCTGCTCT	0.612000														72			8		0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183605973	183605973	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:183605973C>T	uc002uow.1	+	12	1496	c.1081C>T	c.(1081-1083)Cgt>Tgt	p.R361C	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.R315C|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	361					ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	p.R361H(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTTAAGGATCGTTTGGCTCA	0.318000														46			6		0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90276307	90276307	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90276307C>T	uc002boj.3	+	12	1502	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	WDR93_uc010bnr.3_Intron|WDR93_uc010upz.2_Silent_p.F184F	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	467					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TAAAATATTTCTCGGTCCACA	0.483000														207			15		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94944769	94944769	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94944769G>A	uc003uns.3	-	3	332	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	PON1_uc011kih.2_Missense_Mutation_p.P79S	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	79					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GGACTGTTGGGGTTGAAGCTC	0.393000														71			16		0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207110583	207110583	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207110583G>A	uc001hez.3	-	3	1086	c.902C>T	c.(901-903)cCc>cTc	p.P301L	PIGR_uc009xbz.3_Missense_Mutation_p.P301L	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	301	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTGTCCTGGGGGTTGAGCAG	0.587000														50			27		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930315	46930315	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:46930315C>T	uc003gxg.3	-	8	2575	c.1592G>A	c.(1591-1593)gGg>gAg	p.G531E	GABRA4_uc021xnz.1_Missense_Mutation_p.G512E|GABRA4_uc021xoa.1_Missense_Mutation_p.G461E	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	531					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	p.G531V(2)|p.F530S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTTAAATGCCCCAAATGTGAC	0.388000														100			23		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768532	117768532	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117768532C>T	uc001twn.2	-	1	1054	c.343G>A	c.(343-345)Ggg>Agg	p.G115R	NOS1_uc001twm.2_Missense_Mutation_p.G115R	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	115	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTGGGGGTCCCATCACCTGTA	0.632000														38			22		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71747982	71747982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71747982G>A	uc010fen.3	+	11	1238	c.1097G>A	c.(1096-1098)aGa>aAa	p.R366K	DYSF_uc010fei.3_Missense_Mutation_p.R365K|DYSF_uc010feh.3_Missense_Mutation_p.R334K|DYSF_uc002sig.4_Missense_Mutation_p.R334K|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R365K|DYSF_uc010fee.3_Missense_Mutation_p.R334K|DYSF_uc010fef.3_Missense_Mutation_p.R365K|DYSF_uc002sie.3_Missense_Mutation_p.R334K|DYSF_uc010feo.3_Missense_Mutation_p.R366K|DYSF_uc010fej.3_Missense_Mutation_p.R335K|DYSF_uc010fel.3_Missense_Mutation_p.R335K|DYSF_uc010fem.3_Missense_Mutation_p.R335K|DYSF_uc002sif.3_Missense_Mutation_p.R335K|DYSF_uc010fek.3_Missense_Mutation_p.R366K	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	334	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCTGGGGCCAGAGGCTACCTG	0.572000														92			27		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236908011	236908011	+	Silent	SNP	C	T	T	rs34785693	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:236908011C>T	uc001hyf.2	+	11	1545	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	ACTN2_uc001hyg.2_Silent_p.F239F|ACTN2_uc009xgi.1_Silent_p.F447F|ACTN2_uc010pxu.1_Silent_p.F136F	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	447					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACGAGGCGTTCGAGAGCGACC	0.637000														21			40		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807483	20807483	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:20807483T>A	uc002npb.1	-	3	1350	c.1200A>T	c.(1198-1200)gaA>gaT	p.E400D	ZNF626_uc002npc.1_Missense_Mutation_p.E324D	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGCCACATTCTTCACATTTGT	0.398000														116			8		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156816391	156816391	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156816391G>A	uc010pht.2	-	7	2029	c.1730C>T	c.(1729-1731)gCc>gTc	p.A577V	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	577	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TAGCGTGATGGCCCGCACAAA	0.612000														38			18		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141012408	141012408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:141012408G>A	uc004cog.3	+	41	5927	c.5782G>A	c.(5782-5784)Gag>Aag	p.E1928K	CACNA1B_uc022bqn.1_Missense_Mutation_p.E1928K|CACNA1B_uc004coi.3_Missense_Mutation_p.E1142K	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1930					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ACAAAACCAAGAGAGTGGCAT	0.567000														22			4		0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17488005	17488005	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17488005G>A	uc002ngk.1	-	0	133	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	31						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGAGGGAGACGAAGAGGAAGA	0.607000														75			31		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685641	100685641	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100685641C>T	uc003uxp.1	+	2	10997	c.10944C>T	c.(10942-10944)acC>acT	p.T3648T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3648	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CATCGGTGACCATTTCTGAGG	0.488000														187			75		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158607975	158607975	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158607975G>A	uc001fst.1	-	35	5236	c.5037C>T	c.(5035-5037)ttC>ttT	p.F1679F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1679					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GATCAACGTTGAAAGTCCCGC	0.423000														35			22		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66937361	66937361	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:66937361C>T	uc004dwu.2	+	4	3330	c.2215C>T	c.(2215-2217)Cag>Tag	p.Q739*	AR_uc022byk.1_Intron|AR_uc004dwv.2_Nonsense_Mutation_p.Q207*	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	738	Interaction with MYST2.|Ligand-binding.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GGCTGTCATTCAGTACTCCTG	0.542000									Androgen Insensitivity Syndrome					13			17		0	0	1	0	0
FAM48B2	170067	broad.mit.edu	37	X	24330498	24330498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:24330498G>A	uc011mjw.2	-	0	935	c.935C>T	c.(934-936)gCt>gTt	p.A312V		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA.	312										breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1)	23						ATACCCTTTAGCAAGTTTCTC	0.532000														51			75		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78328593	78328593	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:78328593C>T	uc003kfs.3	-	8	1440	c.1434G>A	c.(1432-1434)ctG>ctA	p.L478L	DMGDH_uc011cte.1_Silent_p.L328L|DMGDH_uc011ctf.1_Silent_p.L277L|DMGDH_uc011ctg.1_Silent_p.L98L	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	478					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACTTAGACTCCAGCCTTTGAT	0.493000														191			35		0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25023490	25023491	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:25023490_25023491CC>TT	uc003aan.1	+	11	1599_1600	c.1112_1113CC>TT	c.(1111-1113)ccc>cTT	p.P371L	GGT1_uc003aas.1_Missense_Mutation_p.P371L|GGT1_uc003aat.1_Missense_Mutation_p.P371L|GGT1_uc003aau.2_Missense_Mutation_p.P371L|GGT1_uc003aav.2_Missense_Mutation_p.P371L|GGT1_uc003aaw.2_Missense_Mutation_p.P371L|GGT1_uc003aax.2_Missense_Mutation_p.P371L|GGT1_uc003aay.1_Missense_Mutation_p.P27L	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	371					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	p.P371P(2)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TACTACAAGCCCGAGTTCTACA	0.619000														25			17		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32065162	32065163	+	Nonsense_Mutation	DNP	AC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32065162_32065163AC>TT	uc003nzl.2	-	2	669_670	c.467_468GT>AA	c.(466-468)tgt>tAA	p.C156*		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	156	EGF-like 1; incomplete.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTCACAGGAACAGGTGCAGCG	0.619000														39			12		0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18765443	18765443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:18765443C>T	uc010exr.3	-	4	920	c.808G>A	c.(808-810)Gag>Aag	p.E270K	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.E328K|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.E268K|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.E328K|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.E311K|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.E345K|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.E330K|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.E268K|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.E120K	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	328	Poly-Gln.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										CCCTCTTGCTCGTAGATTTTC	0.552000														149			52		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209807885	209807885	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:209807885G>A	uc001hhg.3	-	4	861	c.471C>T	c.(469-471)ttC>ttT	p.F157F	LAMB3_uc009xco.3_Silent_p.F157F|LAMB3_uc001hhh.3_Silent_p.F157F|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Intron	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	157	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGACCCGAGGGAAGGTGGAGG	0.637000														64			27		0	0	1	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20781668	20781668	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20781668G>A	uc021rnp.1	-	5	1201	c.590C>T	c.(589-591)cCa>cTa	p.P197L	CCNB1IP1_uc001vwv.3_Missense_Mutation_p.P197L|CCNB1IP1_uc001vwx.3_Missense_Mutation_p.P197L|CCNB1IP1_uc001vwy.3_Missense_Mutation_p.P197L|CCNB1IP1_uc001vwz.3_Missense_Mutation_p.P197L	NM_182852	NP_878272	Q9NPC3	CIP1_HUMAN	Homo sapiens cyclin B1 interacting protein 1, E3 ubiquitin protein ligase (CCNB1IP1), transcript variant 4, mRNA.	197						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		AATCATGGATGGTTCAAGGGT	0.418000			T	HMGA2	leiomyoma									115			27		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134980930	134980930	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:134980930C>T	uc001llz.1	+	1	149	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F	KNDC1_uc001lma.1_5'UTR	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	50	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGACCGCGGCCTCAGCGAGCA	0.711000														10			4		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144944640	144944640	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144944640C>T	uc003zaa.1	-	0	2795	c.2782G>A	c.(2782-2784)Ggc>Agc	p.G928S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	928						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTCCCAGGCCGCACAGGTAC	0.682000														28			7		0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14746012	14746012	+	Silent	SNP	C	T	T	rs147231935		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:14746012C>T	uc003jfm.4	-	6	1213	c.882G>A	c.(880-882)acG>acA	p.T294T		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	294					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CACGGATTTCCGTCAACCAGC	0.522000														57			15		0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149129188	149129189	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149129188_149129189GG>AA	uc003wfv.3	-	5	2337_2338	c.2174_2175CC>TT	c.(2173-2175)ccc>cTT	p.P725L		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	725					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCTCGCACTCGGGGCACTTGAA	0.673000														109			25		0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043528	56043528	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56043528C>T	uc001nio.1	+	0	414	c.414C>T	c.(412-414)atC>atT	p.I138I		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ATGTAGCCATCTACAACCCTC	0.428000														184			97		0	0	1	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766568	27766568	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:27766568T>A	uc011mjy.2	+	0	1643	c.1556T>A	c.(1555-1557)cTt>cAt	p.L519H		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATAAACTGTCTTGAACCCCAC	0.507000														3			11		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14747004	14747004	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:14747004C>T	uc003zlm.3	-	34	6871	c.6055G>A	c.(6055-6057)Gga>Aga	p.G2019R	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.G555R	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	2019					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGGAAGAGTCCCTTTAATTCC	0.468000														23			6		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25789932	25789932	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:25789932C>T	uc003gru.4	-	12	2283	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	SEL1L3_uc003grv.3_Missense_Mutation_p.E118K	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	711						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATTGCTGCTTCGGGATTCTTG	0.463000														115			40		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455093	84455093	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:84455093G>A	uc001vlk.3	-	0	1436	c.550C>T	c.(550-552)Ctc>Ttc	p.L184F		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	184						integral to membrane		p.D183E(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTACCCCGGAGGTCGAGGTGG	0.532000														70			33		0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86959980	86959980	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:86959980G>A	uc001dlt.3	+	10	2051	c.1791G>A	c.(1789-1791)acG>acA	p.T597T	CLCA1_uc001dls.1_Silent_p.T536T	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	597					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTTCCAAAACGAACAAGGACA	0.517000														43			12		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6087174	6087174	+	Silent	SNP	C	T	T	rs61753516		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:6087174C>T	uc010idb.1	-	3	1293	c.807G>A	c.(805-807)ggG>ggA	p.G269G	JAKMIP1_uc010idc.1_Silent_p.G104G|JAKMIP1_uc010idd.1_Silent_p.G269G|JAKMIP1_uc003giu.4_Silent_p.G269G|JAKMIP1_uc011bwc.2_Silent_p.G104G|JAKMIP1_uc003giv.4_Silent_p.G269G|JAKMIP1_uc010ide.3_Silent_p.G269G	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	269	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.G269R(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCACCATGTCCCCGATCCCGG	0.607000														41			11		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48628970	48628970	+	Silent	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48628970C>G	uc003ctz.2	-	11	1564	c.1563G>C	c.(1561-1563)ggG>ggC	p.G521G		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	521	Fibronectin type-III 4.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCACCCGCTGCCCGGGCAGCT	0.662000														120			16		0	0	1	0	0
C10orf27	219793	broad.mit.edu	37	10	72538330	72538330	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72538330C>T	uc010qjm.1	-	5	880	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	C10orf27_uc001jrj.1_Missense_Mutation_p.E164K|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Missense_Mutation_p.E163K|C10orf27_uc009xqi.1_Intron|C10orf27_uc010qjo.1_Missense_Mutation_p.E152K|C10orf27_uc009xqj.1_3'UTR|C10orf27_uc010qjp.1_3'UTR	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	164					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						TTCTTCAGTTCATCCTCCTTG	0.557000														160			71		0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587196	36587196	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:36587196C>T	uc003aox.3	-	5	1205	c.980G>A	c.(979-981)aGg>aAg	p.R327K	APOL4_uc003aow.3_Missense_Mutation_p.R324K|APOL4_uc010gww.3_Missense_Mutation_p.R170K	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant b, mRNA.	328					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						AGCCCACTGCCTCAGCGACTC	0.537000														19			6		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25684929	25684929	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:25684929G>A	uc001isj.3	+	2	1158	c.1098G>A	c.(1096-1098)gtG>gtA	p.V366V		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	366						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCTTACCAGTGAACAACTTTC	0.358000														37			13		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22315315	22315315	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22315315G>A	uc001wbz.1	+	1	478	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Non-coding_Transcript|TCRA_uc010ait.1_Missense_Mutation_p.E66K					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: un 132.																		TTTTGAGGCTGAATTTAAGAA	0.502000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		141			61		0	0	1	0	0
CALB2	794	broad.mit.edu	37	16	71423699	71423699	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71423699C>T	uc002faa.4	+	10	827	c.747C>T	c.(745-747)tcC>tcT	p.S249S	CALB2_uc010vme.2_Non-coding_Transcript|CALB2_uc002fac.4_3'UTR	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	249	EF-hand 6.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GCGTCATGTCCTTGGCAGAGG	0.562000														201			39		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22788875	22788875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22788875C>T	uc001wdr.2	+	1	140	c.88C>T	c.(88-90)Cct>Tct	p.P30S	TCRA_uc001wbw.2_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_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 41, partial cds, clone: SEB 69.																		GGAGCAGAGTCCTCAGAACCT	0.418000														14			12		0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241468740	241468740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241468740G>A	uc010fzd.1	-	4	792	c.667C>T	c.(667-669)Ctc>Ttc	p.L223F	ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Missense_Mutation_p.L134F|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	134							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCTTCTGAGAGGCTGATCCTG	0.542000														46			16		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8486138	8486138	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:8486138G>A	uc003zkk.3	-	27	3422	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	893	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V892A(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGAGAGCCTGAAGACGTATG	0.463000										TSP Lung(15;0.13)				34			27		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92150276	92150276	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:92150276C>T	uc001xzs.1	-	10	1016	c.876G>A	c.(874-876)gtG>gtA	p.V292V		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	292					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GTTTTCCTTTCACATAGTCAA	0.259000														86			31		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386727	56386727	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56386727G>A	uc002ivx.4	-	21	4777	c.3906C>T	c.(3904-3906)ccC>ccT	p.P1302P	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Silent_p.P1242P|BZRAP1_uc010wnt.2_Silent_p.P1302P	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1302						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTCACAAAAGGGGTCGGGCT	0.587000														39			16		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	38997699	38997699	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:38997699C>T	uc011aej.1	-	3	1087	c.1034G>A	c.(1033-1035)gGg>gAg	p.G345E	KCNJ6_uc002ywo.2_Missense_Mutation_p.G345E	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	345					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TTCGTAGAACCCGTCCTCCAG	0.557000														88			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179443794	179443794	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179443794C>T	uc021vsy.1	-	268	60484	c.60259G>A	c.(60259-60261)Gaa>Aaa	p.E20087K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E13782K|TTN_uc021vta.1_Missense_Mutation_p.E13715K|TTN_uc021vtb.1_Missense_Mutation_p.E13590K|AX746670_uc002umv.1_Missense_Mutation_p.S7L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21014	Fibronectin type-III 45.						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)			GCTGTGACTTCATCAAATTTG	0.453000														36			25		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45725748	45725748	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:45725748G>A	uc002xsm.3	+	8	1203	c.829G>A	c.(829-831)Gag>Aag	p.E277K	EYA2_uc010ghp.3_Missense_Mutation_p.E277K|EYA2_uc002xsq.3_Missense_Mutation_p.E277K	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	277					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GGACTTGGATGAGACAATAAT	0.403000														183			60		0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100354555	100354555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:100354555C>T	uc003duc.3	+	4	750	c.482C>T	c.(481-483)tCt>tTt	p.S161F	GPR128_uc011bhc.2_5'UTR	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	161					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S161F(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AATAACATTTCTTCTGAAGTC	0.368000														88			18		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627445	38627445	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38627445G>A	uc021wvo.1	-	14	2576	c.2524C>T	c.(2524-2526)Ctg>Ttg	p.L842L	SCN5A_uc021wvk.1_Silent_p.L842L|SCN5A_uc021wvl.1_Silent_p.L842L|SCN5A_uc021wvm.1_Silent_p.L842L|SCN5A_uc021wvn.1_Silent_p.L842L|SCN5A_uc021wvp.1_Silent_p.L842L|SCN5A_uc021wvq.1_Silent_p.L842L|SCN5A_uc021wvr.1_Silent_p.L842L|SCN5A_uc021wvs.1_Silent_p.L842L|SCN5A_uc021wvt.1_Silent_p.L842L|SCN5A_uc021wvu.1_Silent_p.L842L|SCN5A_uc021wvv.1_Silent_p.L842L|SCN5A_uc021wvj.1_Silent_p.L708L|SCN5A_uc021wvi.1_Silent_p.L708L|SCN5A_uc021wvw.1_Silent_p.L453L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	842					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ACCAGTGTCAGGTTCCCCAGT	0.572000														63			30		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130162345	130162345	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130162345G>A	uc010htj.1	+	35	7007	c.6513G>A	c.(6511-6513)ccG>ccA	p.P2171P	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Silent_p.P210P|COL6A5_uc010htk.1_Silent_p.P210P	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2171	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ACCCACCACCGATGCTTGAGG	0.373000														52			22		0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2853194	2853194	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:2853194C>T	uc002lwo.3	+	3	1269	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	ZNF555_uc002lwn.4_Silent_p.F376F	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		GGAAGACCTTCATTTATCCCC	0.463000														42			11		0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079799	70079799	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:70079799C>T	uc003heh.3	-	0	651	c.642G>A	c.(640-642)atG>atA	p.M214I	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	214					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						GCACATAGATCATATTTTTTA	0.343000														57			23		0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191300967	191300967	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:191300967C>T	uc002urz.2	+	2	536	c.212C>T	c.(211-213)tCc>tTc	p.S71F		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	71					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CTTCTAATTTCCAAGGTCTTT	0.398000														98			39		0	0	1	0	0
TIPRL	261726	broad.mit.edu	37	1	168153170	168153170	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:168153170C>T	uc001gfg.3	+	1	280	c.135C>T	c.(133-135)ctC>ctT	p.L45L	TIPRL_uc001gff.3_Silent_p.L45L	NM_152902	NP_690866	O75663	TIPRL_HUMAN	Homo sapiens TIP41, TOR signaling pathway regulator-like (S. cerevisiae) (TIPRL), transcript variant 1, mRNA.	45					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					TGCCATCTCTCCCTGAAATGA	0.388000														98			40		0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111166	55111166	+	Silent	SNP	C	T	T	rs144421988	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55111166C>T	uc010rie.2	+	0	490	c.490C>T	c.(490-492)Cta>Tta	p.L164L		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TCTGTACAGTCTACCAATCTG	0.443000														145			31		0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577134	158577134	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158577134G>A	uc010pio.2	+	0	906	c.906G>A	c.(904-906)agG>agA	p.R302R		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CAGCTCTGAGGAATGCTTTCA	0.458000														191			72		0	0	1	0	0
MSMB	4477	broad.mit.edu	37	10	51556768	51556768	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:51556768G>A	uc001jiq.3	+	2	159	c.127G>A	c.(127-129)Gga>Aga	p.G43R	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|MSMB_uc001jir.3_Intron	NM_002443	NP_002434	P08118	MSMB_HUMAN	Homo sapiens microseminoprotein, beta- (MSMB), transcript variant PSP94, mRNA.	43						extracellular space|nucleus				lung(4)|ovary(2)|prostate(1)	7						GGATCTCAAAGGAAACAAACA	0.428000														48			19		0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151894528	151894528	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:151894528G>A	uc003qol.3	+	5	1083	c.994G>A	c.(994-996)Gcc>Acc	p.A332T		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	332																	GAAAATCGCAGCCCTCCTTAG	0.502000														33			26		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35247748	35247748	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:35247748G>A	uc002yta.1	+	33	4532	c.4264G>A	c.(4264-4266)Gaa>Aaa	p.E1422K	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.E1417K|ITSN1_uc002ytj.2_Intron|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc010gmn.1_Non-coding_Transcript|ITSN1_uc002ytk.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1422	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|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CCAGGTGAACGAAGGGGTGCG	0.607000														93			37		0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1732664	1732664	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:1732664C>T	uc003gdo.3	+	4	1591	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V	TACC3_uc010ibz.3_Missense_Mutation_p.A479V|TACC3_uc003gdp.3_Missense_Mutation_p.A119V	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	479						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAGTTGGCAGCCGAGACCCCA	0.632000														53			6		0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303045	53303045	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53303045G>A	uc002qad.3	-	3	2210	c.2053C>T	c.(2053-2055)Cat>Tat	p.H685Y	ZNF28_uc002qac.3_Missense_Mutation_p.H631Y|ZNF28_uc010eqe.3_Missense_Mutation_p.H631Y|ZNF28_uc021uza.1_Missense_Mutation_p.H632Y	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	685					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TCTCCAGTATGAACTCTCTGA	0.408000														184			53		0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59937222	59937222	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:59937222G>A	uc002izk.2	-	2	446	c.140C>T	c.(139-141)cCc>cTc	p.P47L		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	47	Helicase ATP-binding.		P -> A (in BC; early onset; loss of ATPase and helicase activities; dbSNP:rs28903098).		DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACTTCCTGTGGGACTCTCCAA	0.353000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						98			18		0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155720128	155720128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155720128G>A	uc003ioo.3	+	3	987	c.814G>A	c.(814-816)Gat>Aat	p.D272N	RBM46_uc011cim.1_Missense_Mutation_p.D272N|RBM46_uc003iop.1_Missense_Mutation_p.D272N	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	272	RRM 3.						RNA binding|nucleotide binding	p.D272Y(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GAAACTTAGAGATTATGCTTT	0.353000														50			18		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106976817	106976817	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106976817G>A	uc001kyi.1	+	18	2898	c.2671G>A	c.(2671-2673)Gtg>Atg	p.V891M	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	891	PKD.					integral to membrane	neuropeptide receptor activity	p.Q890H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GATCTTCCAGGTGACAGCCTA	0.532000														54			27		0	0	1	0	0
ALDH7A1	501	broad.mit.edu	37	5	125919701	125919701	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:125919701G>A	uc003ktx.3	-	3	508	c.316C>T	c.(316-318)Cct>Tct	p.P106S	ALDH7A1_uc011cxa.2_Missense_Mutation_p.P133S	NM_001201377	NP_001188306	P49419	AL7A1_HUMAN	Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA.	106					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	TTTGGAGCAGGAATCTAAGAA	0.348000														50			29		0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95263154	95263154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:95263154C>T	uc011lty.2	-	8	1973	c.1786G>A	c.(1786-1788)Gat>Aat	p.D596N	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.D574N|ECM2_uc004asg.3_Missense_Mutation_p.D574N|ECM2_uc010mqz.2_Missense_Mutation_p.D18N	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	596					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCCATGCCATCATCAGCAAGT	0.443000														94			25		0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142513531	142513531	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:142513531G>A	uc011dbj.2	+	19	1734	c.1699_splice	c.e19-1	p.I567_splice	ARHGAP26_uc003lmt.3_Splice_Site_p.I567_splice|ARHGAP26_uc003lmw.3_Splice_Site_p.I567_splice	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	567	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCGTTTGCAGATATTTAACA	0.517000														193			88		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101892274	101892274	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:101892274C>T	uc003uys.4	+	23	4630	c.4503C>T	c.(4501-4503)cgC>cgT	p.R1501R	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.R1490R	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1490					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCATCCACCGCCTGGAGAAGG	0.706000														14			5		0	0	1	0	0
TBC1D21	161514	broad.mit.edu	37	15	74177154	74177154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74177154C>T	uc002avz.3	+	4	483	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S	TBC1D21_uc010ulc.2_Missense_Mutation_p.P98S	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	134	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						TGACAAAGATCCCCTGGGCAA	0.522000														40			16		0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120366	47120366	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:47120366G>A	uc001wwg.3	-	0	663	c.574C>T	c.(574-576)Cct>Tct	p.P192S		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	192					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CAACCATCAGGGATGAGGCAC	0.517000														83			41		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39228121	39228121	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:39228121C>T	uc003cjk.2	-	1	3045	c.2816G>A	c.(2815-2817)aGt>aAt	p.S939N	XIRP1_uc003cji.3_Missense_Mutation_p.S939N|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.S939N	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	939							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)		GTGCAGGCCACTCAGGTCTCC	0.632000														61			19		0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456292	5456292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:5456292C>T	uc002mca.4	+	0	867	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	264						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		TACCCTGGCCCTGGTCGTATC	0.677000														71			27		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368336	18368336	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18368336G>A	uc010ebn.2	-	3	3974	c.3758C>T	c.(3757-3759)cCt>cTt	p.P1253L	PDE4C_uc002nil.4_5'Flank|PDE4C_uc021uql.1_5'Flank|KIAA1683_uc002nin.2_Missense_Mutation_p.P1066L|KIAA1683_uc010xqe.1_Missense_Mutation_p.P1020L|KIAA1683_uc010xqf.1_Non-coding_Transcript	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	0						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACAGGTGCGAGGGCTGGAGCC	0.687000														14			5		0	0	1	0	0
ZNF286B	729288	broad.mit.edu	37	17	18565296	18565296	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:18565296G>A	uc010vyd.1	-	4	1774	c.1523C>T	c.(1522-1524)tCa>tTa	p.S508L		NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN	Homo sapiens zinc finger protein 286B (ZNF286B), mRNA.	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						GATGAGAGATGAACTGCACTT	0.363000														27			18		0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128856489	128856489	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:128856489G>A	uc009zcp.3	-	12	1331	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	ARHGAP32_uc009zcq.2_Missense_Mutation_p.S404F|ARHGAP32_uc009zco.3_5'UTR|ARHGAP32_uc001qez.3_Missense_Mutation_p.S95F|ARHGAP32_uc001qfb.3_Missense_Mutation_p.S229F	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	444	Rho-GAP.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTTACATAGGGAACCCACAGA	0.468000														87			23		0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55894164	55894164	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:55894164G>C	uc002rzf.2	-	12	1191	c.1138C>G	c.(1138-1140)Ctt>Gtt	p.L380V		NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	Homo sapiens polyribonucleotide nucleotidyltransferase 1 (PNPT1), mRNA.	380					RNA processing|mRNA catabolic process	plasma membrane	3'-5'-exoribonuclease activity|RNA binding|polyribonucleotide nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GATCCATGAAGGGTTTTAAAC	0.308000														39			16		0	0	1	0	0
TUBA1B	10376	broad.mit.edu	37	12	49523142	49523142	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49523142G>A	uc001rtm.3	-	2	479	c.258C>T	c.(256-258)ctC>ctT	p.L86L	TUBA1B_uc021qxn.1_5'Flank|TUBA1B_uc001rtl.3_Silent_p.L51L	NM_006082	NP_006073	P68363	TBA1B_HUMAN	Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA.	86					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						CAGGGTGGAAGAGCTGGCGGT	0.557000														106			51		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386285	56386285	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56386285C>T	uc002ivx.4	-	21	5219	c.4348G>A	c.(4348-4350)Ggt>Agt	p.G1450S	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.G1390S|BZRAP1_uc010wnt.2_Missense_Mutation_p.G1450S	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1450						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGAGGCCACCCCTCTCCCGT	0.697000														45			23		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18889628	18889628	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:18889628C>T	uc003zne.4	+	24	4677	c.4525C>T	c.(4525-4527)Cag>Tag	p.Q1509*	ADAMTSL1_uc003znf.4_Nonsense_Mutation_p.Q210*	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1509						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCGGGGGGTTCAGCAGCCCCG	0.607000														31			5		0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28304412	28304412	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:28304412G>A	uc002ymg.3	-	5	2689	c.1960C>T	c.(1960-1962)Ccc>Tcc	p.P654S		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	654	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCATATTTGGGAACCCATTCC	0.448000														24			46		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49444380	49444380	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49444380G>A	uc001rta.4	-	10	2991	c.2991C>T	c.(2989-2991)ccC>ccT	p.P997P		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	997	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGATCATAGGGGGGACAGGCT	0.617000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				31			10		0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31952984	31952984	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31952984C>T	uc003ale.3	+	6	994	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	SFI1_uc003ald.1_Missense_Mutation_p.R177C|SFI1_uc003alf.3_Missense_Mutation_p.R201C|SFI1_uc003alg.3_Missense_Mutation_p.R119C|SFI1_uc011alp.2_Missense_Mutation_p.R119C|SFI1_uc011alq.2_Missense_Mutation_p.R177C|SFI1_uc003alh.3_Intron	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	201					G2/M transition of mitotic cell cycle	centriole|cytosol		p.R201H(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CGTGGTTGTTCGTAGGACCAA	0.468000														57			20		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299274	58299274	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:58299274G>T	uc001vhq.1	+	3	4218	c.3326G>T	c.(3325-3327)cGg>cTg	p.R1109L	PCDH17_uc010aec.1_Missense_Mutation_p.R1108L|PCDH17_uc001vhr.1_Missense_Mutation_p.R198L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1109					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R1109R(1)|p.R1109W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGAGCCAGCCGGGATTCCAGT	0.517000														171			45		3.54561e-26	3.56723e-26	1	1	0
OR10J5	127385	broad.mit.edu	37	1	159504872	159504872	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159504872G>A	uc010piw.2	-	0	926	c.926C>T	c.(925-927)tCt>tTt	p.S309F		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AATCCATTAAGAAATATTTCT	0.388000														36			16		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233297093	233297093	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233297093C>T	uc001hvl.2	-	17	3525	c.3290G>A	c.(3289-3291)tGg>tAg	p.W1097*	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.	1097						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)				GATGAGATCCCATTTTAAGAC	0.473000														23			5		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21249714	21249714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21249714G>A	uc002red.3	-	14	2318	c.2190C>T	c.(2188-2190)gtC>gtT	p.V730V		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	730			V -> I (in dbSNP:rs12691202).		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGACCTTAGAGACACCATCAG	0.413000														96			33		0	0	1	0	0
ZNF384	171017	broad.mit.edu	37	12	6781694	6781694	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6781694G>A	uc010sfh.2	-	7	1186	c.916C>T	c.(916-918)Cac>Tac	p.H306Y	ZNF384_uc001qqa.3_Intron|ZNF384_uc001qqd.3_Intron	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	Homo sapiens zinc finger protein 384 (ZNF384), transcript variant 7, mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						ATCTTGGAGTGGATCCTGCCG	0.607000			T	"""EWSR1, TAF15 """	ALL									31			14		0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41482155	41482155	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:41482155C>T	uc010ucv.2	-	10	1308	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	EXD1_uc001znj.3_Missense_Mutation_p.D86N|EXD1_uc001znk.3_Missense_Mutation_p.D288N	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	288					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	p.G346W(1)		large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CCAAGCCGGTCTGCAGACCCT	0.527000														69			26		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111061284	111061284	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111061284C>T	uc001dzt.1	-	0	514	c.126G>A	c.(124-126)ggG>ggA	p.G42G		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	42						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGGAGCTGCCCCCAGGCCGGC	0.557000														37			18		0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847480	7847480	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7847480G>A	uc010rbg.2	-	0	40	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AACCCCAAAAGAGTAAACTCT	0.343000														59			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	23265006	23265006	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:23265006C>T	uc021wml.1	+	445		c.18475C>T								Parts of antibodies, mostly variable regions.																		CAGTGGAAGTCCCACAGAAGC	0.612000														66			12		0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40774191	40774191	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:40774191G>A	uc004abs.2	-	4	1236	c.1084C>T	c.(1084-1086)Ctc>Ttc	p.L362F	ZNF658_uc010mmm.2_Missense_Mutation_p.L362F|ZNF658_uc010mmn.1_Missense_Mutation_p.L362F	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCTGGTAGAGGGCATCTGTA	0.363000														195			89		0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17434544	17434544	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:17434544C>T	uc002wpm.3	+	8	1397	c.1043C>T	c.(1042-1044)tCt>tTt	p.S348F	PCSK2_uc002wpl.3_Missense_Mutation_p.S329F|PCSK2_uc010zrm.2_Missense_Mutation_p.S313F	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	348	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGAGCTGCTCTTCCACCTTG	0.597000														70			25		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58118620	58118620	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58118620G>A	uc003djj.2	+	25	4641	c.4476G>A	c.(4474-4476)atG>atA	p.M1492I	FLNB_uc010hne.2_Missense_Mutation_p.M1523I|FLNB_uc003djk.2_Missense_Mutation_p.M1492I|FLNB_uc010hnf.2_Missense_Mutation_p.M1492I|FLNB_uc003djl.2_Missense_Mutation_p.M1323I|FLNB_uc003djm.2_Missense_Mutation_p.M1323I	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1492	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GACCTTACATGGTCTCAGTTA	0.512000														27			13		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140735371	140735371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140735371C>T	uc003ljq.2	+	0	604	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.R202C	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	202	Cadherin 2.				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)			CGCTCTAGATCGCGAGGAAGA	0.557000														16			11		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216496929	216496929	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:216496929G>A	uc001hku.1	-	7	1824	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	USH2A_uc001hkv.3_Silent_p.F479F	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	479	Laminin N-terminal.		F -> S.		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.F479F(2)		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)		TGGCTTTTACGAACTCTTGAA	0.408000										HNSCC(13;0.011)				172			16		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2298005	2298005	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:2298005C>T	uc002wfx.4	+	6	954	c.857C>T	c.(856-858)tCt>tTt	p.S286F		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	286					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	p.S286F(2)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCGCTGCGGTCTTTGGGGATT	0.582000														74			46		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190250839	190250839	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:190250839C>T	uc001gse.1	-	2	510	c.278G>A	c.(277-279)aGa>aAa	p.R93K	FAM5C_uc010pot.1_Intron	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	93						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)					GAAATTTCTTCTCTCAACTGC	0.398000														91			20		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79326248	79326248	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:79326248C>T	uc010mpk.3	-	7	1066	c.942G>A	c.(940-942)caG>caA	p.Q314Q	PRUNE2_uc022bih.1_Silent_p.Q136Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	314					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGCAAGGGTTCTGACACTCTT	0.488000														13			10		0	0	1	0	0
SCARF2	91179	broad.mit.edu	37	22	20780149	20780149	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:20780149G>A	uc002zsj.2	-	10	2234	c.2129C>T	c.(2128-2130)tCg>tTg	p.S710L	SCARF2_uc002zsk.2_Missense_Mutation_p.S705L	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA.	705	Pro-rich.				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGTATGCGCCGATTTGTCGCT	0.766000														13			9		0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109865299	109865299	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:109865299G>A	uc010sxn.1	+	17	1809	c.1809G>A	c.(1807-1809)agG>agA	p.R603R		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TCCTCATAAGGCATCAGATCA	0.463000														177			69		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34773187	34773187	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34773187G>A	uc002xfb.3	+	6	886	c.715G>A	c.(715-717)Gag>Aag	p.E239K	EPB41L1_uc002xeu.3_Missense_Mutation_p.E177K|EPB41L1_uc010zvo.1_Missense_Mutation_p.E239K|EPB41L1_uc002xev.3_Missense_Mutation_p.E239K|EPB41L1_uc002xew.3_Missense_Mutation_p.E142K|EPB41L1_uc002xex.3_Missense_Mutation_p.E208K|EPB41L1_uc002xey.3_Intron|EPB41L1_uc002xez.3_Missense_Mutation_p.E177K	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	239	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	p.S238S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CTATGTCAGCGAGCTCCGCTT	0.587000														46			17		0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43627933	43627933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:43627933C>T	uc004dfz.4	-	13	1554	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N	MAOB_uc011mkx.2_Missense_Mutation_p.G411E|MAOB_uc011mky.2_Missense_Mutation_p.D444N	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	460					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	CAGATTTCATCCTCTGGAATC	0.398000														18			23		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47210392	47210392	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:47210392G>A	uc002ion.2	+	0	64	c.5G>A	c.(4-6)gGg>gAg	p.G2E	B4GALNT2_uc010wlt.1_Intron|B4GALNT2_uc010wlu.1_Intron	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	2					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCAGGAATGGGGAGCGCTGGC	0.647000														17			8		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72050250	72050250	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72050250G>A	uc002atb.1	+	13	2504	c.2425G>A	c.(2425-2427)Gag>Aag	p.E809K	THSD4_uc002ate.2_Missense_Mutation_p.E449K|THSD4_uc002atg.1_Missense_Mutation_p.E12K	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	809	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTGCTCAGCGGAGTGTGGGGC	0.612000														74			20		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7806009	7806009	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:7806009C>T	uc001aoi.3	+	17	4682	c.4475C>T	c.(4474-4476)gCc>gTc	p.A1492V	CAMTA1_uc001aok.4_Missense_Mutation_p.A535V|CAMTA1_uc001aoj.3_Missense_Mutation_p.A448V|CAMTA1_uc009vmf.3_Missense_Mutation_p.A82V	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTTCCCTCCGCCGCGGATTGG	0.488000			T	WWTR1	epitheliod hemangioendothelioma									124			27		0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104075163	104075163	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104075163C>T	uc004bbb.3	+	5	1119	c.720C>T	c.(718-720)ttC>ttT	p.F240F	LPPR1_uc011lvi.2_Silent_p.F216F|LPPR1_uc004bbc.3_Silent_p.F240F|LPPR1_uc010mtc.3_Silent_p.F224F	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	240						integral to membrane	catalytic activity										GCACAGCCTTCCTGACAGGCC	0.547000														111			28		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41100936	41100936	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:41100936C>T	uc002xkg.3	-	7	1604	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	PTPRT_uc010ggj.3_Missense_Mutation_p.E474K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	474	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCAGCTCCTCGCTCTCCATT	0.587000														96			14		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79842818	79842818	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:79842818C>T	uc001sys.3	+	11	1854	c.1183C>T	c.(1183-1185)Ctg>Ttg	p.L395L	SYT1_uc001syt.3_Silent_p.L395L|SYT1_uc001syu.3_Silent_p.L392L|SYT1_uc001syv.3_Silent_p.L395L	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	395					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GTCAGACATGCTGGCCAACCC	0.547000														39			17		0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45540982	45540982	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45540982C>T	uc021uvq.1	+	11	1805	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F	RELB_uc021uvp.1_Silent_p.F555F|CLASRP_uc002pak.3_5'Flank|CLASRP_uc002pal.3_5'Flank|CLASRP_uc010xxh.2_5'Flank|CLASRP_uc002pam.3_5'Flank|CLASRP_uc002pan.1_5'Flank	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	558						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCAACATGTTCCCCAATCATT	0.697000														27			5		0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131750420	131750420	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131750420C>T	uc004bws.1	+	23	2510	c.2488C>T	c.(2488-2490)Cct>Tct	p.P830S	NUP188_uc004bwu.3_Missense_Mutation_p.P173S	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	830					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCTGAAACCTCCTTCTAATGT	0.498000														188			54		0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59210841	59210841	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59210841G>A	uc001nnx.1	+	0	200	c.200G>A	c.(199-201)aGc>aAc	p.S67N		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S67I(2)|p.S67R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTCTTCCTAAGCAACTTATCT	0.483000														150			56		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50599869	50599869	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50599869G>A	uc003bjj.3	+	26	3710	c.3627G>A	c.(3625-3627)gaG>gaA	p.E1209E	MOV10L1_uc003bjk.4_Silent_p.E1163E|MOV10L1_uc011arp.2_Missense_Mutation_p.A1159T|MOV10L1_uc003bjl.3_Silent_p.E336E	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1209					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGCATCAGGAGCCCAGCTGAT	0.627000														12			3		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69935090	69935090	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:69935090G>A	uc001jnm.4	+	12	2760	c.2575G>A	c.(2575-2577)Gga>Aga	p.G859R	MYPN_uc001jnn.4_Missense_Mutation_p.G584R|MYPN_uc001jno.4_Missense_Mutation_p.G859R|MYPN_uc009xpt.3_Missense_Mutation_p.G859R|MYPN_uc010qit.2_Missense_Mutation_p.G565R|MYPN_uc010qiu.2_Intron	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	859						nucleus|sarcomere	actin binding	p.G859R(2)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCCATCCCAGGGATTAGCGAA	0.423000														35			21		0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154284151	154284151	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:154284151G>A	uc003lvx.3	-	17	2631	c.2548C>T	c.(2548-2550)Ccc>Tcc	p.P850S	GEMIN5_uc011ddk.1_Missense_Mutation_p.P849S	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	850					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTACTCAGGGGAAGCAAGGAA	0.403000														81			34		0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152737379	152737379	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152737379C>T	uc002tya.3	-	3	393	c.325G>A	c.(325-327)Gag>Aag	p.E109K	CACNB4_uc002txy.3_Missense_Mutation_p.E75K|CACNB4_uc002txz.3_Missense_Mutation_p.E91K|CACNB4_uc010fnz.3_Missense_Mutation_p.E109K|CACNB4_uc021vre.1_Missense_Mutation_p.E75K|CACNB4_uc002tyb.2_Missense_Mutation_p.E75K	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	109					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	GGCACATCCTCGTCCAGGGCG	0.473000														26			13		0	0	1	0	0
RBMX2	51634	broad.mit.edu	37	X	129546525	129546525	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:129546525C>T	uc004evt.3	+	5	736	c.672C>T	c.(670-672)ctC>ctT	p.L224L		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	Homo sapiens RNA binding motif protein, X-linked 2 (RBMX2), mRNA.	224	Lys-rich.						RNA binding|nucleotide binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						GGCAGAAGCTCCCCAAATCCA	0.557000														14			37		0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17208398	17208398	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:17208398G>A	uc010hev.3	-	22	2285	c.2021C>T	c.(2020-2022)tCc>tTc	p.S674F	TBC1D5_uc010heu.3_Missense_Mutation_p.S239F|TBC1D5_uc003cbf.3_Missense_Mutation_p.S652F|TBC1D5_uc003cbe.3_Missense_Mutation_p.S652F	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	652						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AAAACGCAGGGAACCTTTTAG	0.448000														37			18		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111184	7111184	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7111184C>T	uc001mfc.2	+	0	1020	c.833C>T	c.(832-834)tCc>tTc	p.S278F		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	278	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCAGAGGCTCCCATCGAGAG	0.657000														42			23		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295045	29295045	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29295045C>T	uc002rmt.2	-	0	2083	c.2083G>A	c.(2083-2085)Gaa>Aaa	p.E695K		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	695					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTGCCTTGTTCGTCCTCAGGA	0.537000														103			25		0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131753	82131753	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:82131753G>A	uc002fgv.3	+	4	1048	c.876G>A	c.(874-876)caG>caA	p.Q292Q		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	292					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	CTGAGGTACAGGAAGACTACG	0.537000														79			25		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45708297	45708297	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45708297G>A	uc002zei.2	+	4	735	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	AIRE_uc010gpq.2_5'Flank|AIRE_uc002zej.2_5'Flank|AIRE_uc010gpr.2_5'Flank	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	203	SAND.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CCGGGAGCCCGAGGGGCCGTG	0.632000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					59			33		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115349528	115349528	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115349528G>A	uc001lal.3	-	40	5149	c.4985C>T	c.(4984-4986)aCc>aTc	p.T1662I	NRAP_uc009xyb.3_Missense_Mutation_p.T415I|NRAP_uc001laj.3_Missense_Mutation_p.T1662I|NRAP_uc001lak.3_Missense_Mutation_p.T1627I	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1662						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AACACCTCTGGTCAGGTTCAA	0.542000														94			28		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115947732	115947732	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115947732C>T	uc001lbg.1	+	1	295	c.142C>T	c.(142-144)Cct>Tct	p.P48S	TDRD1_uc001lbf.3_Missense_Mutation_p.P39S|TDRD1_uc001lbh.1_Missense_Mutation_p.P39S|TDRD1_uc001lbi.1_Missense_Mutation_p.P39S	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	48					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGGAACACTTCCTAACCACCC	0.373000														114			34		0	0	1	0	0
RNASEH2B	79621	broad.mit.edu	37	13	51522143	51522143	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:51522143C>A	uc001vfa.4	+	7	1036	c.637C>A	c.(637-639)Cat>Aat	p.H213N	RNASEH2B_uc001vfb.4_Missense_Mutation_p.H213N	NM_024570	NP_078846	Q5TBB1	RNH2B_HUMAN	Homo sapiens ribonuclease H2, subunit B (RNASEH2B), transcript variant 1, mRNA.	213					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		TCGTTATGCCCATGGTCTGAT	0.308000														173			43		4.00472e-15	4.02386e-15	1	1	0
UNC79	57578	broad.mit.edu	37	14	94088532	94088532	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94088532G>A	uc001ybv.1	+	27	4571	c.4488G>A	c.(4486-4488)acG>acA	p.T1496T	UNC79_uc001ybs.1_Silent_p.T1474T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1651						integral to membrane		p.T1495T(1)		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						AAGAGGAGACGATGAACCAAG	0.552000														91			35		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189868140	189868140	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189868140C>T	uc002uqj.1	+	36	2674	c.2557C>T	c.(2557-2559)Cct>Tct	p.P853S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	853	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CATATAGGGTCCTCCTGGTCC	0.383000														43			14		0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39998532	39998532	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39998532C>T	uc002olx.2	+	7	1794	c.1736C>T	c.(1735-1737)gCt>gTt	p.A579V	DLL3_uc002olw.2_Missense_Mutation_p.A579V	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA.	579					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTCATATCTGCTCCTTCCATC	0.547000														58			17		0	0	1	0	0
POMC	5443	broad.mit.edu	37	2	25384191	25384191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:25384191C>T	uc002rfy.1	-	3	826	c.563G>A	c.(562-564)gGa>gAa	p.G188E	POMC_uc002rfz.1_Missense_Mutation_p.G188E|POMC_uc002rga.1_Missense_Mutation_p.G188E	NM_001035256	NP_001030333	P01189	COLI_HUMAN	Homo sapiens proopiomelanocortin (POMC), transcript variant 1, mRNA.	188					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GGGGCCATCTCCCTCCCGGAG	0.706000														8			6		0	0	1	0	0
HV303528	0	broad.mit.edu	37	10	90762815	90762815	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:90762815C>T	uc021pvy.1	-	1		c.1_splice	c.e1-1		FAS_uc010qna.2_Non-coding_Transcript|FAS_uc001kfr.3_Silent_p.S20S|FAS_uc001kft.3_Silent_p.S20S|FAS_uc010qnb.2_Non-coding_Transcript|FAS_uc001kfs.3_Silent_p.S20S|FAS_uc010qnc.2_Non-coding_Transcript|FAS_uc010qnd.2_Non-coding_Transcript|FAS_uc010qne.2_Non-coding_Transcript|FAS_uc001kfw.3_Silent_p.S20S|FAS_uc009xtp.3_Non-coding_Transcript					JP 2009535045-A/352: Short interfering ribonucleic acid (siRNA) for oral administration.																		GATTATCGTCCAAAAGTGTTA	0.398000														66			24		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20618815	20618815	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:20618815G>A	uc003gpr.1	+	34	4334	c.4130G>A	c.(4129-4131)gGa>gAa	p.G1377E	SLIT2_uc003gps.1_Missense_Mutation_p.G1369E	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1377					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCTTGCCTTGGAAATAAGTAA	0.567000														59			9		0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225688361	225688361	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:225688361G>A	uc010fwz.1	-	27	3279	c.3040C>T	c.(3040-3042)Ccc>Tcc	p.P1014S	DOCK10_uc002vob.2_Missense_Mutation_p.P1008S	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1014							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGAGGCCGGGGAAGCTAAGGA	0.368000														76			26		0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101178079	101178079	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:101178079T>A	uc003yjh.2	+	2	264	c.178T>A	c.(178-180)Ttt>Att	p.F60I	SPAG1_uc003yjg.1_Missense_Mutation_p.F60I|SPAG1_uc003yji.2_Missense_Mutation_p.F60I	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	60					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ACTTACAGAATTTTGTGAAAA	0.398000														69			20		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81664975	81664975	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:81664975G>A	uc021ssk.1	-	1	193	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	TMC3_uc021ssj.1_Missense_Mutation_p.R65C|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.R65C	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	65						integral to membrane		p.R65H(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGTCTGCAGCGAATGTTTGCC	0.463000														135			35		0	0	1	0	0
GGT8P	645367	broad.mit.edu	37	2	91968524	91968524	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:91968524C>T	uc010fho.1	+	1		c.855C>T								Homo sapiens gamma-glutamyltransferase 8 pseudogene (GGT8P), non-coding RNA.																		CTCGCCTCTTCCAGCCCAGCA	0.677000														24			17		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48428946	48428946	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48428946G>A	uc001jfb.3	-	1	1368	c.940C>T	c.(940-942)Cac>Tac	p.H314Y	GDF10_uc009xnp.3_Missense_Mutation_p.H313Y|GDF10_uc009xnq.2_Missense_Mutation_p.H314Y	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	314					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.A313S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TGCTGTGCGTGGGCGCGCGGC	0.716000														14			9		0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55794837	55794837	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55794837C>T	uc010spl.2	+	0	525	c.525C>T	c.(523-525)ttC>ttT	p.F175F		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTGACCATTTCATCTGTGATT	0.438000														276			79		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83591047	83591047	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:83591047C>T	uc003uhz.3	-	16	2271	c.1956G>A	c.(1954-1956)gtG>gtA	p.V652V		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	652	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACCCATGTTCCACCGCATGGC	0.438000														82			28		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130284070	130284070	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130284070C>T	uc010htl.3	+	2	925	c.894C>T	c.(892-894)aaC>aaT	p.N298N		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	298	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATATACAGAACCTTTCTCCCC	0.478000														84			19		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125083791	125083792	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:125083791_125083792GG>AA	uc003yqw.3	+	30	4217_4218	c.4011_4012GG>AA	c.(4009-4014)gaggac>gaAAac	p.D1338N	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1338						integral to membrane		p.E1337Q(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTAGCTCTGAGGACAGCGGGCA	0.510000														39			16		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139629193	139629193	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:139629193C>T	uc003yvd.3	-	53	4281	c.3834G>A	c.(3832-3834)aaG>aaA	p.K1278K	COL22A1_uc011ljo.2_Silent_p.K558K	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1278	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGTGTGTCCCTTGAAGCCCT	0.587000										HNSCC(7;0.00092)				69			15		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39442854	39442854	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39442854G>A	uc003xni.3	+	1	170	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	ADAM18_uc003xnh.3_Missense_Mutation_p.E39K|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.E39K	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	39					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AAATGACAGTGAAGTTTCAGA	0.313000														49			25		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159170684	159170684	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159170684G>A	uc001ftl.2	+	8	1348	c.1169G>A	c.(1168-1170)gGg>gAg	p.G390E	CADM3_uc001ftk.2_Missense_Mutation_p.G424E|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	390					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)					CAGTCAGGAGGGGACGACAAG	0.612000														91			17		0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35813759	35813759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:35813759C>T	uc003anu.4	+	12	1707	c.1613C>T	c.(1612-1614)aCt>aTt	p.T538I	MCM5_uc003anv.4_Missense_Mutation_p.T495I|MCM5_uc003anw.1_Missense_Mutation_p.T322I	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	538					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CATGTCATCACTCTGCACGTG	0.577000														106			51		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111979231	111979231	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:111979231G>A	uc004bdz.1	-	15	1899	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	535						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAGTTTGGGGACCTCAGAGG	0.582000														165			44		0	0	1	0	0
EDN1	1906	broad.mit.edu	37	6	12294197	12294197	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:12294197G>A	uc003nae.4	+	2	591	c.257G>A	c.(256-258)gGa>gAa	p.G86E	EDN1_uc003nad.3_Missense_Mutation_p.G86E|EDN1_uc003naf.4_Missense_Mutation_p.G85E	NM_001955	NP_001946	P05305	EDN1_HUMAN	Homo sapiens endothelin 1 (EDN1), transcript variant 1, mRNA.	86					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of JUN kinase activity|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TATGGACTTGGAAGCCCTAGG	0.408000														55			14		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124989729	124989729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:124989729C>T	uc003yqw.3	+	9	1149	c.943C>T	c.(943-945)Cct>Tct	p.P315S		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	315	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGAAATGTTCCCTCCCTTGTG	0.498000														83			33		0	0	1	0	0
Mir_422	0	broad.mit.edu	37	15	64163163	64163163	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:64163163G>A	uc021sov.1	-	0		c.56C>T								Rfam model RF01030 hit found at contig region AC015914.8/92261-92350																		gggacagagagcccatctgca	0.547000														143			8		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739263	55739263	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55739263G>A	uc003pcq.3	-	0	1113	c.401C>T	c.(400-402)cCt>cTt	p.P134L	BMP5_uc011dxf.2_Missense_Mutation_p.P134L	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	134					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GGTGGTCAGAGGAGTCGTCCG	0.512000														92			24		0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46181175	46181175	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46181175C>T	uc002pcu.1	+	10	1035	c.936C>T	c.(934-936)ctC>ctT	p.L312L	GIPR_uc002pct.1_Silent_p.L312L|GIPR_uc010xxp.1_Silent_p.L276L|GIPR_uc010xxq.1_Non-coding_Transcript|MIR642B_uc021uvy.1_5'Flank	NM_000164	NP_000155	P48546	GIPR_HUMAN	Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA.	312					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TTAATTTCCTCATTTTTATCC	0.567000														81			22		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442096	103442096	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:103442096G>A	uc001ymi.1	-	10	1664	c.1432C>T	c.(1432-1434)Ctc>Ttc	p.L478F		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	478					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GAATTGCTGAGGGCCCGAGAT	0.517000														222			14		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2026901	2026901	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2026901G>A	uc003wpx.4	+	11	1487	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	450	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTTTTTGAAGGAAGGTCTTAC	0.507000														200			99		0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44951664	44951664	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:44951664G>A	uc003coc.4	+	10	1483	c.1410G>A	c.(1408-1410)gaG>gaA	p.E470E		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	470					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTGTAAAAGAGAACTTTCTTC	0.478000														68			34		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602718	96602719	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96602718_96602719CC>TT	uc010qnz.2	+	6	1086_1087	c.1086_1087CC>TT	c.(1084-1089)atcccc>atTTcc	p.P363S	CYP2C19_uc010qny.2_Missense_Mutation_p.P341S	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	363					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TCGACCTCATCCCCACCAGCCT	0.535000														139			44		0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88249327	88249327	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:88249327C>T	uc003ydy.2	+	5	806	c.758C>T	c.(757-759)tCa>tTa	p.S253L		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	253										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TACCTACCTTCATATGACTCA	0.383000														40			19		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100508335	100508335	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:100508335C>T	uc003dun.3	-	23	2077	c.1992G>A	c.(1990-1992)gtG>gtA	p.V664V	ABI3BP_uc003duj.3_Silent_p.V219V|ABI3BP_uc003duk.3_Silent_p.V348V|ABI3BP_uc003dul.3_Silent_p.V469V|ABI3BP_uc011bhd.2_Silent_p.V618V|ABI3BP_uc003dum.3_Silent_p.V50V	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	664	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTCTGGGCCTCACAGTAGTAT	0.423000														6			4		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37724314	37724314	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:37724314G>A	uc004aag.1	+	6	653	c.609G>A	c.(607-609)gtG>gtA	p.V203V	FRMPD1_uc004aah.1_Silent_p.V203V|FRMPD1_uc011lqm.2_Silent_p.V25V|FRMPD1_uc011lqn.2_Silent_p.V72V	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	203	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACACAACCGTGAAGGTATTAA	0.463000														44			7		0	0	1	0	0
IFNA22P	3453	broad.mit.edu	37	9	21278221	21278221	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21278221G>A	uc003zou.1	-	0		c.342C>T								Homo sapiens interferon, alpha 22, pseudogene (IFNA22P), non-coding RNA.																		ATTCCTCAGGGGAGTCTCTTC	0.458000														192			20		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7691433	7691433	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7691433C>T	uc002giu.1	+	42	6785	c.6771C>T	c.(6769-6771)ttC>ttT	p.F2257F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2257	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AACGCATGTTCGAAAAGCTCA	0.542000														27			10		0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322321	5322321	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5322321G>A	uc010qza.2	-	0	856	c.856C>T	c.(856-858)Cct>Tct	p.P286S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAATGATAGGATTCACGAAT	0.428000														69			13		0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095248	145095248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145095248C>T	uc011lkw.2	+	1	752	c.650C>T	c.(649-651)cCc>cTc	p.P217L	SPATC1_uc011lkx.2_Missense_Mutation_p.P217L	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	217										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGCCAACCCCATGAGCAAC	0.682000														62			14		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534248	92534248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92534248C>T	uc001pdj.4	+	8	8086	c.8069C>T	c.(8068-8070)tCc>tTc	p.S2690F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2690	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTAAAGCACTCCCTCATTCCT	0.448000										TCGA Ovarian(4;0.039)				35			14		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11302032	11302032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:11302032G>A	uc010hdr.3	+	1	1651	c.1309G>A	c.(1309-1311)Gtc>Atc	p.V437I	HRH1_uc010hds.3_Missense_Mutation_p.V437I|HRH1_uc010hdt.3_Missense_Mutation_p.V437I|HRH1_uc003bwb.4_Missense_Mutation_p.V437I|HRH1_uc021wtb.1_Missense_Mutation_p.V437I	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	437					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CTTCTTCATGGTCATTGCCTT	0.488000														240			79		0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397806	125397806	+	Missense_Mutation	SNP	G	A	A	rs143365567		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:125397806G>A	uc001ugs.4	-	1	970	c.512C>T	c.(511-513)cCc>cTc	p.P171L	UBC_uc001ugr.3_5'Flank|UBC_uc001ugt.3_Missense_Mutation_p.P171L|UBC_uc001ugu.1_Missense_Mutation_p.P171L|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.P171L|UBC_uc001ugw.3_Missense_Mutation_p.P19L	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	171	Ubiquitin-like 3.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGTGTCACTGGGCTCCACCTC	0.517000														198			24		0	0	1	0	0
S1PR3	1903	broad.mit.edu	37	9	91617111	91617111	+	Silent	SNP	C	T	T	rs138808274		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:91617111C>T	uc022bjm.1	+	0	996	c.996C>T	c.(994-996)ctC>ctT	p.L332L	S1PR3_uc004aqe.3_Silent_p.L332L	NM_005226	NP_005217	Q99500	S1PR3_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA.	332					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						AGCCTGCGCTCGACCCAAGCA	0.632000														44			12		0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103550824	103550824	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:103550824G>A	uc001ktv.2	-	13	2726	c.2283C>T	c.(2281-2283)tcC>tcT	p.S761S	MGEA5_uc001ktu.2_Non-coding_Transcript|MGEA5_uc010qqe.1_Silent_p.S708S|MGEA5_uc009xws.2_Silent_p.S694S	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	761	Histone acetyltransferase activity (By similarity).|Required for histone H4 binding (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)		CCAGGCTGAGGGAAAGCAGCC	0.423000														73			37		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121008491	121008491	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121008491C>T	uc010rzo.2	+	9	3303	c.3303C>T	c.(3301-3303)atC>atT	p.I1101I		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1101	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTCCTGCATCGTCTCAGGCT	0.587000														30			20		0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45817476	45817476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:45817476G>A	uc011bai.2	-	3	483	c.359C>T	c.(358-360)cCc>cTc	p.P120L	SLC6A20_uc011baj.2_Missense_Mutation_p.P120L	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	120					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCACGGCAGGGGATCCTGTGG	0.582000														60			33		0	0	1	0	0
BOLL	66037	broad.mit.edu	37	2	198593232	198593232	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:198593232C>T	uc002uuu.1	-	11	1358	c.979G>A	c.(979-981)Gat>Aat	p.D327N	BC021693_uc002uup.3_Intron|BOLL_uc002uur.2_3'UTR|BOLL_uc002uus.2_3'UTR|BOLL_uc002uut.2_3'UTR|BOLL_uc010zha.1_3'UTR	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA.	46					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	RNA binding|nucleotide binding|protein binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ACGCAAGGATCATTGGACAAG	0.423000														47			19		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78594328	78594328	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:78594328C>T	uc001syp.3	+	37	6964	c.6791C>T	c.(6790-6792)tCt>tTt	p.S2264F	NAV3_uc001syo.3_Missense_Mutation_p.S2242F|NAV3_uc010sub.2_Missense_Mutation_p.S1721F|NAV3_uc009zsf.3_Missense_Mutation_p.S1073F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2264						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						TGGAACTATTCTTTAGTACCT	0.338000										HNSCC(70;0.22)				69			36		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19752827	19752827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19752827G>A	uc002nnd.3	-	2	255	c.138C>T	c.(136-138)ctC>ctT	p.L46L	GMIP_uc010xrb.2_Silent_p.L46L|GMIP_uc010xrc.2_Silent_p.L46L	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	46					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGTCTTCTGAGAGTAGAGGGT	0.582000														25			10		0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67354558	67354558	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67354558G>A	uc002esu.2	-	1	285	c.234C>T	c.(232-234)tcC>tcT	p.S78S	KCTD19_uc002est.2_5'UTR|KCTD19_uc010vjj.1_5'UTR	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	78						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCACAACTGGAGAAGGAGA	0.478000														101			9		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13701487	13701487	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13701487C>T	uc003jfd.2	-	76	13439	c.13397G>A	c.(13396-13398)aGc>aAc	p.S4466N	DNAH5_uc003jfc.2_Missense_Mutation_p.S634N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4466					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)					GGTAAACTGGCTGTTTCTTTC	0.393000									Kartagener syndrome					115			18		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18691869	18691869	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:18691869C>T	uc001bau.2	+	5	1076	c.693C>T	c.(691-693)ctC>ctT	p.L231L	IGSF21_uc001bav.2_Silent_p.L52L	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	231						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CACTGTCCCTCCTGGACGCCG	0.652000														111			40		0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26204076	26204076	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:26204076G>A	uc002rgu.2	-	0	1368	c.711C>T	c.(709-711)atC>atT	p.I237I	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Silent_p.I237I	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	237	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCCACTCGGATGTGGTCCT	0.627000														47			27		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063593	9063593	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9063593C>T	uc002mkp.3	-	2	24057	c.23853G>A	c.(23851-23853)agG>agA	p.R7951R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7953	Ser-rich.|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						CAGGACCCCTCCTCATAAGAG	0.463000														63			7		0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20107104	20107104	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:20107104G>A	uc001bcn.3	-	3	390	c.148C>T	c.(148-150)Ctg>Ttg	p.L50L	TMCO4_uc001bco.1_Silent_p.L50L|TMCO4_uc001bcp.1_Silent_p.L50L|TMCO4_uc009vpn.1_Silent_p.L50L|TMCO4_uc001bcq.1_Silent_p.L50L	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	50						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AACTGGGACAGGGAGATGCCA	0.592000														37			11		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90119263	90119263	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:90119263C>T	uc003kju.3	+	75	16314	c.16218C>T	c.(16216-16218)gtC>gtT	p.V5406V	GPR98_uc003kjt.3_Silent_p.V3112V|GPR98_uc003kjw.3_Silent_p.V1067V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5406					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGTCAAGGTCTTTTGGCGAG	0.463000														59			24		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62329911	62329911	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62329911G>A	uc001dab.3	+	20	2554	c.2440_splice	c.e20-1	p.G814_splice	INADL_uc009waf.1_Splice_Site_p.G814_splice|INADL_uc001daa.2_Splice_Site_p.G814_splice|INADL_uc001dad.3_Splice_Site_p.G511_splice|INADL_uc001dac.3_Splice_Site	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	814					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TATTTATAGGGATTTAGAGAT	0.358000														71			11		0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40312406	40312406	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:40312406C>T	uc002hzb.2	-	15	3039	c.2706G>A	c.(2704-2706)cgG>cgA	p.R902R		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	902					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCATGATGTGCCGCAGCTCCC	0.592000														34			16		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219294035	219294035	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219294035G>A	uc002vib.3	+	5	617	c.595G>A	c.(595-597)Gac>Aac	p.D199N	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.D199N|VIL1_uc002vic.1_Missense_Mutation_p.D199N	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	199	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.R198*(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGATCCGAGACCAGGAGCG	0.617000														76			34		0	0	1	0	0
C9orf43	257169	broad.mit.edu	37	9	116175776	116175776	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116175776G>A	uc004bhp.3	+	1	449	c.3G>A	c.(1-3)atG>atA	p.M1I	POLE3_uc011lxg.1_5'Flank|POLE3_uc004bhn.2_5'Flank|C9orf43_uc004bho.4_Missense_Mutation_p.M1I	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	Homo sapiens chromosome 9 open reading frame 43 (C9orf43), mRNA.	1										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TTCTAGCTATGGACTTGCCAG	0.498000														27			17		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53809900	53809900	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:53809900G>A	uc002acj.2	-	19	3347	c.3305C>T	c.(3304-3306)tCt>tTt	p.S1102F	WDR72_uc010bfh.1_Non-coding_Transcript	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	1102										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTCCATTTAAGACACCTTGCA	0.368000														99			37		0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122287651	122287651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122287651C>T	uc003efk.3	+	2	804	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	DTX3L_uc010hrj.3_Intron|DTX3L_uc021xdb.1_Missense_Mutation_p.P75S	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA.	239					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		TTTTGAAGTTCCCTTGCCTTA	0.398000														56			22		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14852240	14852240	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:14852240C>T	uc010dlo.2	+	35	4120	c.3940C>T	c.(3940-3942)Cga>Tga	p.R1314*	ANKRD30B_uc021uhy.1_Nonsense_Mutation_p.R1314*|ANKRD30B_uc010xal.1_Nonsense_Mutation_p.R456*	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1399										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAGGTGGCTTCGACAGCAATT	0.348000														4			3		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814408	106814408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:106814408G>A	uc003ymd.3	+	7	2121	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	ZFPM2_uc011lhs.2_Missense_Mutation_p.E431K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	700					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGCCGGCACGAAACATACAT	0.488000														27			13		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048907	143048907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143048907C>T	uc003wcr.1	+	22	2903	c.2816C>T	c.(2815-2817)cCt>cTt	p.P939L	CLCN1_uc011ktc.1_Missense_Mutation_p.P551L	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	939					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCAGAGCCCCCTCTCTCCCTG	0.647000														48			25		0	0	1	0	0
CPLX3	594855	broad.mit.edu	37	15	75122542	75122542	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:75122542G>A	uc002ayu.1	+	2	1552	c.324G>A	c.(322-324)atG>atA	p.M108I		NM_001030005	NP_001025176	Q8WVH0	CPLX3_HUMAN	Homo sapiens complexin 3 (CPLX3), mRNA.	108						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						TGGCCAAGATGATCGAGGAGG	0.622000														95			19		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588852	140588852	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140588852G>A	uc003liz.3	+	0	562	c.373G>A	c.(373-375)Gat>Aat	p.D125N	PCDHB12_uc011dak.2_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	125	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGTCAGGGATATAAATGA	0.443000														143			61		0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58330267	58330267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:58330267G>A	uc002yau.3	+	3	856	c.389G>A	c.(388-390)gGa>gAa	p.G130E	PHACTR3_uc002yat.3_Missense_Mutation_p.G127E|PHACTR3_uc010zzw.2_Missense_Mutation_p.G89E|PHACTR3_uc002yav.3_Missense_Mutation_p.G89E|PHACTR3_uc002yaw.3_Missense_Mutation_p.G89E|PHACTR3_uc002yax.3_Missense_Mutation_p.G89E	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	130						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AACCCCGATGGAGGACCCCGA	0.577000														49			16		0	0	1	0	0
IGFL2	147920	broad.mit.edu	37	19	46663672	46663672	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46663672C>T	uc002peb.3	+	3	344	c.53_splice	c.e3-1	p.A18_splice	IGFL2_uc010xxv.2_Splice_Site_p.A7_splice	NM_001002915	NP_001002915	Q6UWQ7	IGFL2_HUMAN	Homo sapiens IGF-like family member 2 (IGFL2), transcript variant 1, mRNA.	7						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TCTCTCCCAGCTCCTGCTTAT	0.542000														18			5		0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176982006	176982006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:176982006C>T	uc002ukj.3	+	0	515	c.445C>T	c.(445-447)Cct>Tct	p.P149S		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	149						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GGTTCCCGTCCCTGGATATTT	0.537000														167			62		0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116937852	116937852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:116937852C>T	uc001ege.3	+	12	2120	c.1781C>T	c.(1780-1782)cCt>cTt	p.P594L	ATP1A1_uc010owv.1_Missense_Mutation_p.P563L|ATP1A1_uc010oww.2_Missense_Mutation_p.P594L|ATP1A1_uc010owx.2_Missense_Mutation_p.P563L|ATP1A1OS_uc009whb.2_Intron	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	594					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	ATGATTGACCCTCCACGGGCG	0.522000														130			16		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29005439	29005439	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29005439C>T	uc001usb.3	-	6	1107	c.822G>A	c.(820-822)aaG>aaA	p.K274K	FLT1_uc010aar.1_Silent_p.K274K|FLT1_uc001usc.3_Silent_p.K274K|FLT1_uc010tdp.1_Silent_p.K274K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	274	Ig-like C2-type 3.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CGGAAGCTCTCTTATTTTTCT	0.338000														41			21		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314322	54314322	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54314322C>T	uc002qcj.4	-	2	811	c.591G>A	c.(589-591)gaG>gaA	p.E197E	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.E197E|NLRP12_uc002qci.4_Silent_p.E197E|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.E197E	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	197					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAAAGAGGGTCTCTATCTTGA	0.637000														112			7		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61424021	61424021	+	Missense_Mutation	SNP	C	T	T	rs145829924		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61424021C>T	uc010qig.1	-	3	849	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	134					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CCTCGGCGATCGTCAAAATAC	0.393000														53			27		0	0	1	0	0
PRPF31	26121	broad.mit.edu	37	19	54627968	54627968	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54627968C>T	uc002qdh.2	+	7	1184	c.788C>T	c.(787-789)tCg>tTg	p.S263L	PRPF31_uc010yek.1_Missense_Mutation_p.S263L|PRPF31_uc021vbi.1_Missense_Mutation_p.S263L	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	263	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP|nuclear speck	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCGGGCTTCTCGTCTACCTCA	0.672000														56			40		0	0	1	0	0
EVX2	344191	broad.mit.edu	37	2	176948363	176948363	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:176948363G>A	uc010zeu.2	-	0	328	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	48						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GGGCTTAGGCGAGCCGGGTGC	0.607000														53			12		0	0	1	0	0
COPS7B	64708	broad.mit.edu	37	2	232672238	232672238	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:232672238C>T	uc002vsh.1	+	7	834	c.731C>T	c.(730-732)cCt>cTt	p.P244L	COPS7B_uc010fxy.1_Silent_p.S192S|COPS7B_uc002vsg.1_Silent_p.S226S|COPS7B_uc002vsi.1_Silent_p.S119S|COPS7B_uc002vsj.1_Non-coding_Transcript|COPS7B_uc002vsk.1_Silent_p.S119S			Q9H9Q2	CSN7B_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) (COPS7B), mRNA.	0					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCGCATCCTCCTCGGCTCAGG	0.547000														37			13		0	0	1	0	0
AGMAT	79814	broad.mit.edu	37	1	15905504	15905504	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:15905504C>T	uc001awv.2	-	3	713	c.570G>A	c.(568-570)acG>acA	p.T190T	DNAJC16_uc001awu.3_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.	190					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTGTCGGTCGTGTCCGTGT	0.642000														46			15		0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12090106	12090106	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12090106C>T	uc001ato.2	+	7	1260	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA.	289										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CGCTGTCGATCCTGGAGCCCC	0.682000														52			18		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178585872	178585872	+	Silent	SNP	G	A	A	rs149253571		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178585872G>A	uc003mjw.3	-	5	1086	c.984C>T	c.(982-984)agC>agT	p.S328S	ADAMTS2_uc011dgm.2_Silent_p.S328S	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	328	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCTCGATGAGGCTCATGGACT	0.612000														26			8		0	0	1	0	0
DDX54	79039	broad.mit.edu	37	12	113603608	113603608	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113603608G>A	uc001tuq.4	-	13	1673	c.1645_splice	c.e13+1	p.S549_splice	DDX54_uc001tup.3_Splice_Site_p.S549_splice	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	549					RNA processing|estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|estrogen receptor binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGGACTCACTGAAGAGGGGGT	0.642000														29			10		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183721183	183721183	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:183721183C>T	uc003ivd.1	+	26	7854	c.7779C>T	c.(7777-7779)ttC>ttT	p.F2593F		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2593					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CGCGCAGGTTCGCGGACGTGG	0.692000														6			8		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141052202	141052202	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:141052202G>A	uc003llm.3	-	8	1380	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	ARAP3_uc011dbe.2_Silent_p.I96I|ARAP3_uc003lln.3_Silent_p.I356I|ARAP3_uc003llo.1_Silent_p.I434I	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	434	PH 2.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CGATGAAGCAGATCCCGATGC	0.642000														31			19		0	0	1	0	0
PHYHIP	9796	broad.mit.edu	37	8	22079094	22079094	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:22079094G>A	uc003xbk.4	-	5	1459	c.765C>T	c.(763-765)ccC>ccT	p.P255P	PHYHIP_uc003xbj.4_Silent_p.P255P	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.	255										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TGTCCAGGAGGGGCAGGCGGT	0.622000														40			14		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140782717	140782717	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140782717C>T	uc003lkh.2	+	0	198	c.198C>T	c.(196-198)atC>atT	p.I66I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.I66I	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	66	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L66S(1)		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)			GAGTCCGCATCGTCTCTAGAG	0.612000														86			40		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189068185	189068185	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:189068185G>A	uc003izm.1	+	5	1181	c.1066G>A	c.(1066-1068)Ggc>Agc	p.G356S	TRIML1_uc003izn.1_Missense_Mutation_p.G80S	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	356	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GTGGGAAGTGGGCATCTGCAA	0.517000														68			16		0	0	1	0	0
LGALS13	29124	broad.mit.edu	37	19	40097942	40097942	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40097942G>A	uc002omb.3	+	3	423	c.383G>A	c.(382-384)aGa>aAa	p.R128K		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.	128	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CAAGTGTCGAGAGATATCTCC	0.463000														97			10		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072451	17072451	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17072451C>T	uc002zlp.1	-	0	1250	c.990G>A	c.(988-990)ttG>ttA	p.L330L		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	330					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAGGTGTGTCCAACACCTCAC	0.567000														146			48		0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899773	156899773	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156899773C>T	uc003lwx.4	+	5	1322	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Silent_p.F383F	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	402						integral to membrane	receptor activity	p.F340L(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TGGGCGTGTTCATGCTGCATG	0.547000														39			15		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22927561	22927561	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22927561G>A	uc001bfx.1	+	14	2834	c.2709G>A	c.(2707-2709)agG>agA	p.R903R		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	903						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGAGTCTCAGGGCCACCGCCA	0.637000														45			25		0	0	1	0	0
C10orf107	219621	broad.mit.edu	37	10	63519931	63519931	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:63519931G>A	uc010qik.2	+	4	708	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_173554	NP_775825	Q8IVU9	CJ107_HUMAN	Homo sapiens chromosome 10 open reading frame 107 (C10orf107), mRNA.	135								p.T134A(1)		breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					ATTGGATACGGAAATGAAGGT	0.383000														70			18		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	25474	25474	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000209.1:25474G>A	uc002qts.2	+	2	220	c.191G>A	c.(190-192)gGg>gAg	p.G64E	KIR2DL2_uc002qtt.2_Missense_Mutation_p.G64E	NM_014219	NP_055034	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 (KIR2DL2), mRNA.	64	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										CACAGAGAAGGGAAGTTTAAG	0.527000														67			83		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74452007	74452007	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74452007C>T	uc002sko.1	-	23	3256	c.3254G>A	c.(3253-3255)aGg>aAg	p.R1085K	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.R1069K|SLC4A5_uc010ffc.1_Missense_Mutation_p.R988K|SLC4A5_uc002skp.1_Missense_Mutation_p.R967K|SLC4A5_uc002sks.1_Missense_Mutation_p.G977R	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	1085						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTTTCTCTTCCTCTTCTTGTC	0.502000														151			50		0	0	1	0	0
BC039356	0	broad.mit.edu	37	1	227618464	227618464	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:227618464C>T	uc001hqv.3	+	3		c.1699C>T								Homo sapiens cDNA clone IMAGE:5270051.																		AGTACAAGATCCCGGACTGGT	0.488000														18			7		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31523087	31523087	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:31523087G>A	uc010dmi.3	-	8	1782	c.1484C>T	c.(1483-1485)tCa>tTa	p.S495L	NOL4_uc010xbs.2_Missense_Mutation_p.S210L|NOL4_uc002kxr.4_Missense_Mutation_p.S267L|NOL4_uc010xbt.2_Missense_Mutation_p.S421L|NOL4_uc010dmh.3_Missense_Mutation_p.S357L|NOL4_uc010xbu.2_Missense_Mutation_p.S431L|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Missense_Mutation_p.S180L	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	495						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						CTCACAAGCTGAAGCCAAGAT	0.423000														81			20		0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66975410	66975410	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:66975410C>T	uc002eqr.3	+	7	2108	c.1108_splice	c.e7-1	p.P370_splice	CES2_uc002eqq.3_Splice_Site_p.P370_splice|CES2_uc002eqs.3_Splice_Site_p.P213_splice	NM_003869	NP_003860	O00748	EST2_HUMAN	Homo sapiens carboxylesterase 2 (CES2), transcript variant 1, mRNA.	306					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		TCCCCTCAGCCTTTCAAGATG	0.572000														49			22		0	0	1	0	0
B3GNT2	10678	broad.mit.edu	37	2	62449618	62449618	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:62449618C>T	uc021vii.1	+	0	263	c.263C>T	c.(262-264)tCc>tTc	p.S88F	B3GNT2_uc002sbs.3_Missense_Mutation_p.S88F	NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 (B3GNT2), mRNA.	88						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GGCAGGCTCTCCAATATAAGC	0.547000														404			163		0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282579	69282579	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:69282579G>A	uc004dxu.1	+	0	239	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	69										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GTTCCAAGACGACAGTAGCAT	0.547000														8			12		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104641701	104641701	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:104641701G>A	uc001yos.4	+	11	2576	c.2576G>A	c.(2575-2577)gGa>gAa	p.G859E		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	859					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGTCCCTCAGGAGGTCCAGGT	0.711000														18			9		0	0	1	0	0
IL15RA	3601	broad.mit.edu	37	10	6008124	6008124	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:6008124G>A	uc021pmo.1	-	2	539	c.525C>T	c.(523-525)ccC>ccT	p.P175P	IL15RA_uc010qau.2_Silent_p.P89P|IL15RA_uc021pmp.1_Intron|IL15RA_uc001iiv.3_Silent_p.P89P|IL15RA_uc001iiw.3_Silent_p.P53P|IL15RA_uc001iiy.3_Intron	NM_001243539	NP_001230468	Q13261	I15RA_HUMAN	Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA.	89					cell proliferation	Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						ATTTGAGACTGGGGGTTGTCC	0.572000														36			8		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113376321	113376321	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:113376321G>A	uc003eam.3	-	6	4619	c.4208C>T	c.(4207-4209)cCa>cTa	p.P1403L	KIAA2018_uc003eal.3_Missense_Mutation_p.P1347L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1403					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GTTACTAGGTGGAAATAATCG	0.463000														58			16		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135757541	135757541	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:135757541G>A	uc002tue.1	-	3	311	c.280C>T	c.(280-282)Caa>Taa	p.Q94*	YSK4_uc010fne.1_Nonsense_Mutation_p.Q66*|YSK4_uc002tuf.1_Nonsense_Mutation_p.Q94*|YSK4_uc010fnc.1_Nonsense_Mutation_p.Q94*|YSK4_uc010fnd.1_Intron|YSK4_uc010zbg.1_Nonsense_Mutation_p.Q94*|YSK4_uc002tui.4_Nonsense_Mutation_p.Q111*	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	94							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTCATTTCTTGGGGAGGACTG	0.363000														104			9		0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18893760	18893760	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18893760C>T	uc002nke.3	-	18	2275	c.2239G>A	c.(2239-2241)Gag>Aag	p.E747K	COMP_uc002nkd.3_Missense_Mutation_p.E714K|COMP_uc010xqj.2_Missense_Mutation_p.E694K	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	747	Mediates cell survival and induction of the IAP family of survival proteins.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCATAGTCCTCTGGGATGGTG	0.697000														83			19		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49168441	49168441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:49168441C>T	uc001ngy.3	-	18	2381	c.2120G>A	c.(2119-2121)gGa>gAa	p.G707E	FOLH1_uc001ngx.3_Missense_Mutation_p.E107K|FOLH1_uc009yly.3_Missense_Mutation_p.G692E|FOLH1_uc009ylz.3_Missense_Mutation_p.G661E|FOLH1_uc001ngz.3_Missense_Mutation_p.G676E|FOLH1_uc009yma.3_Missense_Mutation_p.G399E	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	707					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATCATAAATTCCTGGGAATGA	0.443000														62			44		0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44013158	44013158	+	Missense_Mutation	SNP	C	T	T	rs144036424		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:44013158C>T	uc002lcb.1	+	1	118	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	RNF165_uc002lby.1_5'UTR|RNF165_uc010dnn.1_Intron	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	23							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		TCCAGGTGCCCCCTTTCAAAG	0.677000														22			13		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135561040	135561040	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:135561040C>T	uc003lbn.2	-	9	2487	c.2265G>A	c.(2263-2265)aaG>aaA	p.K755K	TRPC7_uc010jef.2_Silent_p.K691K|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.K306K|TRPC7_uc010jeh.2_Silent_p.K694K|TRPC7_uc010jei.2_Silent_p.K639K	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	755					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTAGCGAGTCTTCTGGATAA	0.453000														18			4		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20422911	20422911	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20422911C>T	uc002dhe.3	+	1	252	c.105C>T	c.(103-105)atC>atT	p.I35I	ACSM5_uc002dhd.1_Silent_p.I35I	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	35					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTCAGAAGATCGTGGCCACCT	0.582000														37			15		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86340354	86340354	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:86340354C>T	uc001dlj.3	-	34	3191	c.3116G>A	c.(3115-3117)gGa>gAa	p.G1039E	COL24A1_uc001dli.3_Missense_Mutation_p.G175E|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.G339E|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1039	Collagen-like 9.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTCCCCAGTTCCTCCAACACT	0.438000														34			14		0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42989105	42989105	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:42989105C>T	uc021tyh.1	-	4	907	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	GFAP_uc002ihq.3_Missense_Mutation_p.E281K|GFAP_uc002ihr.3_Missense_Mutation_p.E281K|GFAP_uc010wjg.2_Non-coding_Transcript	NM_001242376	NP_001229305	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA.	281	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TCGTTGGCTTCGTGCTTGGCC	0.682000														29			19		0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45637408	45637408	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:45637408C>T	uc003coq.3	+	0	1086	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	Homo sapiens LIM domains containing 1 (LIMD1), mRNA.	346					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		TCTTACCTTTCCAGTTCTGCC	0.612000														73			16		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304075	10304075	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10304075C>T	uc002gmm.2	-	26	3462	c.3367G>A	c.(3367-3369)Gaa>Aaa	p.E1123K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1123					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCGATTTCTTCCCCCAGCTCC	0.522000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					29			34		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	409209	409209	+	Silent	SNP	G	A	A	rs140563600		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:409209G>A	uc001ifp.3	-	20	2610	c.2520C>T	c.(2518-2520)atC>atT	p.I840I	DIP2C_uc009xhi.1_Silent_p.I226I|DIP2C_uc010pzz.1_Silent_p.I161I	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	840						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCACGATCACGATCCTCTCGT	0.647000														42			18		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76712680	76712680	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:76712680C>T	uc003pik.1	-	11	1376	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	416					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGCTGGGGTTCAACAGGAGGA	0.428000														46			5		0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53096708	53096708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53096708G>A	uc001saw.3	-	0	540	c.511C>T	c.(511-513)Ctc>Ttc	p.L171F	KRT77_uc009zmi.3_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	171	Coil 1A.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ttgttgttgagaaccataatc	0.512000														131			45		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62543093	62543093	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:62543093G>A	uc003dll.2	-	9	2100	c.1740C>T	c.(1738-1740)acC>acT	p.T580T	CADPS_uc003dlk.1_Silent_p.T84T|CADPS_uc003dlm.2_Silent_p.T580T|CADPS_uc003dln.2_Silent_p.T580T|CADPS_uc021wzv.1_Silent_p.T580T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	580	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCTGGGGGTCGGTGTAATCCA	0.517000														133			29		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668568	176668568	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176668568G>A	uc001gkz.3	+	7	4243	c.3079G>A	c.(3079-3081)Gag>Aag	p.E1027K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1027					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.D1026G(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACCTTTGATGAGAGGATAGA	0.562000														95			59		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038703	75038703	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75038703C>T	uc001dgg.3	-	13	2910	c.2691G>A	c.(2689-2691)caG>caA	p.Q897Q		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	897	Glu-rich.									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						TCTCTAAACCCTGTTCCCCTT	0.512000														265			85		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108076874	108076874	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108076874G>A	uc003dwz.3	+	5	1283	c.869G>A	c.(868-870)tGg>tAg	p.W290*	HHLA2_uc011bhl.2_Nonsense_Mutation_p.W226*|HHLA2_uc010hpu.3_Nonsense_Mutation_p.W290*|HHLA2_uc003dwy.4_Nonsense_Mutation_p.W290*	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	290	Ig-like V-type 2.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CGATTCTCATGGAACAAAGAG	0.373000														149			63		0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127668815	127668815	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:127668815G>A	uc009yan.3	+	1	203	c.99G>A	c.(97-99)aaG>aaA	p.K33K	FANK1_uc010quk.1_Silent_p.K27K|FANK1_uc001ljh.4_Silent_p.K33K|FANK1_uc001lji.3_Silent_p.K27K	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	33	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				ATCTGGAAAAGAAAGCCAAAC	0.438000														44			32		0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32782259	32782259	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32782259C>T	uc011dqf.1	-	13	2424	c.2302G>A	c.(2302-2304)Ggg>Agg	p.G768R	TAP2_uc003oca.3_Missense_Mutation_p.G161R|TAP2_uc011dqg.1_Missense_Mutation_p.G161R	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										TCCTCCTGCCCATTCAGGAAC	0.532000														164			66		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837370	12837370	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12837370C>T	uc001aui.3	+	2	1107	c.1080C>T	c.(1078-1080)atC>atT	p.I360I		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	360										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGTGGGATCGTGGATTCCC	0.617000														138			50		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4968027	4968027	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4968027G>A	uc010qys.2	-	0	304	c.304C>T	c.(304-306)Cag>Tag	p.Q102*		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	102					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)		AAGAATTCCTGGGCAAAGCAG	0.448000														140			59		0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57135874	57135874	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57135874C>T	uc001nju.3	+	9	1150	c.966C>T	c.(964-966)atC>atT	p.I322I		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	322					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						TCCCCACCATCATCAGCTCTG	0.622000														162			43		0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228679	57228679	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:57228679C>T	uc010lyk.1	-	1	866	c.228G>A	c.(226-228)ggG>ggA	p.G76G	SDR16C5_uc003xsy.1_Silent_p.G76G|SDR16C5_uc010lyl.1_Silent_p.G76G	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	76					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	p.E75K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TTTCCTCATTCCCCTCCTTAT	0.522000														112			17		0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155264273	155264273	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155264273C>T	uc001fkb.4	-	6	1004	c.965_splice	c.e6+1	p.R322_splice	PKLR_uc001fka.4_Splice_Site_p.R291_splice	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	322					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CAAGCCTCACCTCTTCACGCC	0.577000														60			27		0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63221455	63221455	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:63221455C>T	uc002jfe.3	+	17	1946	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	RGS9_uc010dem.3_Silent_p.S578S|RGS9_uc002jfd.3_Silent_p.S578S|RGS9_uc002jfg.3_Silent_p.S352S	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	581					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TGGCTCTGTCCTTCAGCAGGT	0.682000														156			34		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40677882	40677882	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:40677882C>T	uc001rmg.4	+	18	2568	c.2447C>T	c.(2446-2448)tCt>tTt	p.S816F	LRRK2_uc001rmh.1_Missense_Mutation_p.S438F	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	816					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTTGAACCTTCTTGGCTTGGT	0.368000														97			10		0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122774735	122774735	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:122774735G>A	uc001pym.3	+	2	744	c.447G>A	c.(445-447)gaG>gaA	p.E149E	C11orf63_uc001pyl.1_Silent_p.E149E	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	149								p.P148S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CGTTGCCGGAGTCCACGGACA	0.522000														140			55		0	0	1	0	0
EXOSC2	23404	broad.mit.edu	37	9	133576301	133576301	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:133576301G>A	uc004bzu.2	+	5	495	c.474G>A	c.(472-474)acG>acA	p.T158T	EXOSC2_uc011mbz.1_Intron|EXOSC2_uc011mca.1_Intron	NM_014285	NP_055100	Q13868	EXOS2_HUMAN	Homo sapiens exosome component 2 (EXOSC2), mRNA.	158	S1 motif.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|positive regulation of cell growth|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|7S RNA binding|protein binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		CTTTGCACACGAGGAGCCTGA	0.502000											OREG0019548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			23		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64397937	64397937	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64397937G>A	uc021qkw.1	-	18	4156	c.3694C>T	c.(3694-3696)Cga>Tga	p.R1232*	NRXN2_uc021qkx.1_Nonsense_Mutation_p.R1192*|NRXN2_uc001oas.3_Nonsense_Mutation_p.R1192*|NRXN2_uc001oap.3_Nonsense_Mutation_p.R186*|NRXN2_uc001oaq.3_Nonsense_Mutation_p.R899*	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1232	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCGCCGCTTCGAGTGAAGCGC	0.672000														84			27		0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149678054	149678054	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149678054C>T	uc003lrv.2	-	1	1022	c.433G>A	c.(433-435)Gtg>Atg	p.V145M		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	145						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTTGCCCACCATATGGGTG	0.612000														37			16		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41318367	41318367	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:41318367C>T	uc001rmm.1	+	5	522	c.409C>T	c.(409-411)Cct>Tct	p.P137S	CNTN1_uc009zjy.2_Missense_Mutation_p.P137S|CNTN1_uc001rmn.1_Missense_Mutation_p.P126S|CNTN1_uc001rmo.3_Missense_Mutation_p.P137S	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	137	Ig-like C2-type 2.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGATCTTGATCCTTTCCCACC	0.388000														20			9		0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91692774	91692774	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:91692774C>T	uc004aqf.2	-	2	897	c.590G>A	c.(589-591)gGa>gAa	p.G197E		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	197	PID.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CTTGAAGGCTCCCTTCGCACC	0.483000														80			27		0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	56996002	56996002	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:56996002C>T	uc002eki.2	+	0	168	c.111C>T	c.(109-111)ctC>ctT	p.L37L	CETP_uc002ekj.2_Silent_p.L37L	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	37					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						AGCCTGCCCTCCTGGTGTGTA	0.622000														43			12		0	0	1	0	0
FEZ2	9637	broad.mit.edu	37	2	36810533	36810533	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:36810533G>A	uc002rpg.2	-	2	502	c.455C>T	c.(454-456)tCc>tTc	p.S152F	FEZ2_uc002rpf.2_5'UTR|FEZ2_uc002rph.2_Missense_Mutation_p.S152F|FEZ2_uc002rpj.2_Missense_Mutation_p.S152F	NM_001042548	NP_001036013	Q9UHY8	FEZ2_HUMAN	Homo sapiens fasciculation and elongation protein zeta 2 (zygin II) (FEZ2), transcript variant 2, mRNA.	152					axon guidance|signal transduction		protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				ATTAACACAGGAGACGATGAT	0.443000														77			29		0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7812358	7812358	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7812358G>A	uc002mht.2	-	0	107	c.40C>T	c.(40-42)Ctc>Ttc	p.L14F	CD209_uc010xju.1_Missense_Mutation_p.L14F|CD209_uc010dvp.2_5'UTR|CD209_uc002mhr.2_5'UTR|CD209_uc002mhs.2_5'UTR|CD209_uc002mhu.2_Missense_Mutation_p.L14F|CD209_uc010dvq.2_Missense_Mutation_p.L14F|CD209_uc002mhq.2_5'UTR|CD209_uc002mhv.2_Missense_Mutation_p.L14F|CD209_uc002mhx.2_Missense_Mutation_p.L14F|CD209_uc002mhw.2_Missense_Mutation_p.L14F|CD209_uc010dvr.2_Missense_Mutation_p.L14F	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	14					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCACCCAGGAGGCCCAGCTGC	0.612000														221			96		0	0	1	0	0
PPP6R1	22870	broad.mit.edu	37	19	55757032	55757032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55757032G>A	uc002qjv.3	-	1	511	c.428C>T	c.(427-429)gCc>gTc	p.A143V	PPP6R1_uc002qjw.4_Missense_Mutation_p.A81V	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 1 (PPP6R1), mRNA.	81	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						AATCTCGCAGGCCACACTGGG	0.667000														22			8		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48597980	48597980	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:48597980G>A	uc003gyh.1	-	13	1678	c.1073C>T	c.(1072-1074)tCt>tTt	p.S358F	FRYL_uc003gyk.3_Missense_Mutation_p.S358F	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.S358C(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTATACAAAGATTCCAGTGC	0.284000														31			8		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35187478	35187478	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:35187478C>T	uc003teq.1	-	7	1112	c.5G>A	c.(4-6)tGg>tAg	p.W2*	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		AGGTGGTGTCCACATCACACG	0.363000														33			8		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640680	104640681	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:104640680_104640681GA>AT	uc003hxe.1	-	0	293_294	c.152_153TC>AT	c.(151-153)ctc>cAT	p.L51H		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	51						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGGAGGAGGAGAGGTTGCCAGC	0.698000														42			26		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179576907	179576907	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179576907G>A	uc021vsy.1	-	92	24143	c.23918C>T	c.(23917-23919)tCt>tTt	p.S7973F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4634F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8900	Ig-like 62.						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)			ATCTCCAACAGACACCTTAAC	0.463000														54			24		0	0	1	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23262319	23262319	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:23262319G>A	uc001yvh.1	+	11	1475	c.933G>A	c.(931-933)aaG>aaA	p.K311K	DQ578838_uc021sfn.1_5'Flank|DQ588973_uc001yvl.3_5'Flank|DQ595055_uc001yvm.3_5'Flank|JA429730_uc021sfp.1_5'Flank					Homo sapiens golgin A8 family, member I, pseudogene (GOLGA8IP), non-coding RNA.											endometrium(1)|lung(2)|prostate(1)	4						AGCAAGTAAAGGAGCTACAGG	0.577000														36			10		0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128855915	128855915	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:128855915G>A	uc009zcp.3	-	13	1467	c.1467C>T	c.(1465-1467)ctC>ctT	p.L489L	ARHGAP32_uc009zcq.2_Silent_p.L449L|ARHGAP32_uc009zco.3_5'UTR|ARHGAP32_uc001qez.3_Silent_p.L140L|ARHGAP32_uc001qfb.3_Silent_p.L274L	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	489	Rho-GAP.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTGGTGGGGGGAGCTGCTGGA	0.438000														35			8		0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150029801	150029801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:150029801C>T	uc003lsn.3	+	2	3070	c.2696C>T	c.(2695-2697)tCt>tTt	p.S899F	SYNPO_uc021yfu.1_Missense_Mutation_p.S899F|SYNPO_uc003lso.4_Missense_Mutation_p.S655F|SYNPO_uc003lsp.3_Missense_Mutation_p.S655F|SYNPO_uc021yfv.1_Missense_Mutation_p.S655F	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	899	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGGCGTGGTCTCCCCGAGCC	0.667000														124			37		0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31139024	31139024	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:31139024G>A	uc010qdz.2	-	6	745	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	ZNF438_uc001ivn.3_Nonsense_Mutation_p.Q55*|ZNF438_uc010qdy.2_Nonsense_Mutation_p.Q94*|ZNF438_uc001ivo.4_Intron|ZNF438_uc009xlg.3_Nonsense_Mutation_p.Q104*|ZNF438_uc001ivp.4_Nonsense_Mutation_p.Q94*|ZNF438_uc010qea.2_Nonsense_Mutation_p.Q104*|ZNF438_uc010qeb.2_Nonsense_Mutation_p.Q104*|ZNF438_uc010qec.1_Intron	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q104R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TGAATTGGCTGAGCTGAGGCA	0.488000														127			32		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841610	5841610	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5841610C>T	uc010qzp.2	+	0	45	c.45C>T	c.(43-45)atC>atT	p.I15I	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F14C(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTCTTTATCTTGAATGGCG	0.507000														73			13		0	0	1	0	0
TNFSF15	9966	broad.mit.edu	37	9	117554722	117554722	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117554722C>T	uc004bjh.3	-	2	382	c.266G>A	c.(265-267)aGa>aAa	p.R89K	TNFSF15_uc004bjg.3_Missense_Mutation_p.R30K	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	89					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TCCGTCTGCTCTAAGAGGTGC	0.488000														50			14		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961518	73961518	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73961518G>A	uc004eby.3	-	2	3491	c.2874C>T	c.(2872-2874)ctC>ctT	p.L958L		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	958					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	p.Q957H(1)		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						CATCAGATGGGAGTTGGGTAT	0.423000														105			13		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379722	145379722	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:145379722G>A	uc003lnt.3	+	2	718	c.480G>A	c.(478-480)gaG>gaA	p.E160E	SH3RF2_uc011dbl.1_Silent_p.E160E	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	160	SH3 1.						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)			AGCTTGATGAGAATTGGTACC	0.557000														57			21		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398297	89398297	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89398297G>A	uc010upo.1	+	11	2855	c.2481G>A	c.(2479-2481)aaG>aaA	p.K827K	ACAN_uc010upp.1_Silent_p.K827K|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	827					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)			TCCCCTCCAAGGAGCCATCCC	0.622000														16			6		0	0	1	0	0
NR1D2	9975	broad.mit.edu	37	3	24003559	24003559	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:24003559C>T	uc003ccs.2	+	4	928	c.609C>T	c.(607-609)ttC>ttT	p.F203F	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_Silent_p.F128F	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	203					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						ACAGCCAGTTCAGTGGTCACT	0.458000														33			16		0	0	1	0	0
CD63	967	broad.mit.edu	37	12	56121019	56121019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56121019G>A	uc001shn.3	-	2	356	c.171C>T	c.(169-171)atC>atT	p.I57I	CD63_uc009znz.3_Silent_p.I34I|CD63_uc001sho.3_Silent_p.I57I	NM_001780	NP_001771	P08962	CD63_HUMAN	Homo sapiens CD63 molecule (CD63), transcript variant 1, mRNA.	57					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CCACTGCGATGATGACCACTG	0.592000														132			34		0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57871033	57871033	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57871033C>T	uc001sod.3	-	7	1182	c.989G>A	c.(988-990)gGg>gAg	p.G330E	ARHGAP9_uc001sny.3_5'Flank|ARHGAP9_uc001snz.3_Missense_Mutation_p.G75E|ARHGAP9_uc001soa.3_5'UTR|ARHGAP9_uc001sob.3_Missense_Mutation_p.G259E|ARHGAP9_uc001soc.3_Missense_Mutation_p.G259E|ARHGAP9_uc001soe.1_Missense_Mutation_p.G338E|ARHGAP9_uc010sro.1_Missense_Mutation_p.G259E	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	259	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGTCTGTGTCCCCTCCATGGA	0.542000														50			8		0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64517912	64517912	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64517912C>T	uc001oax.4	-	16	2930	c.2113G>A	c.(2113-2115)Gga>Aga	p.G705R	PYGM_uc001oay.4_Missense_Mutation_p.G617R	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	705					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TTTTCCTCTCCCGCCTCTTCT	0.557000														231			16		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142641786	142641786	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142641786G>A	uc003wcb.3	-	11	1567	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	453					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TTTCTGAGGCGAGTGATGAGG	0.607000														52			4		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86258507	86258507	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:86258507G>A	uc002sqs.3	-	29	4903	c.4524C>T	c.(4522-4524)atC>atT	p.I1508I	POLR1A_uc010ytb.2_Silent_p.I874I	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	1508					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TGAACGGGTGGATCTCACGCA	0.677000														155			62		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106917020	106917020	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106917020G>A	uc001kyi.1	+	9	1834	c.1607G>A	c.(1606-1608)gGa>gAa	p.G536E		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	536						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GACCTGAGAGGAAGCCCAGTG	0.567000														43			8		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155098568	155098568	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:155098568G>A	uc002tyt.4	+	2	441	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	GALNT13_uc002tyr.4_Missense_Mutation_p.E113K|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	113						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CTACCCTGATGAACTTCCAAA	0.333000														41			24		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15053097	15053097	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15053097C>T	uc010xoc.2	+	0	797	c.797C>T	c.(796-798)cCt>cTt	p.P266L		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GTTACACCACCTTCTAGGACA	0.537000														112			49		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984946	140984946	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140984946C>T	uc011mwp.2	+	6	1402	c.1402C>T	c.(1402-1404)Ctc>Ttc	p.L468F	MAGEC3_uc004fbs.3_Missense_Mutation_p.L170F|MAGEC3_uc010nsj.3_Missense_Mutation_p.L170F|MAGEC3_uc022cfh.1_Missense_Mutation_p.L170F	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	468	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTTTCTTCTCCTCAAATA	0.463000														23			33		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66190294	66190294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66190294C>T	uc001ohx.1	+	3	756	c.580C>T	c.(580-582)Cct>Tct	p.P194S	NPAS4_uc010rpc.1_Silent_p.P20P	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	194					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						TTTCTGTGCCCCTCTGGAGCC	0.622000														107			20		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90816375	90816375	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:90816375C>T	uc003hst.3	+	0	324	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S	MMRN1_uc010iku.3_Intron	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	85					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.P85P(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AACACTGCCTCCCTCAGAAAC	0.478000														47			20		0	0	1	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67174477	67174477	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67174477C>T	uc001ola.3	+	7	857	c.828C>T	c.(826-828)ttC>ttT	p.F276F	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_Intron|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	276	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGGATGCCTTCCTCAGTGAGG	0.662000														120			48		0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154207104	154207104	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154207104C>T	uc001fep.4	+	4	484	c.317C>T	c.(316-318)tCa>tTa	p.S106L	UBAP2L_uc009wot.3_Missense_Mutation_p.S106L|UBAP2L_uc010pek.2_Missense_Mutation_p.S105L|UBAP2L_uc010pel.2_Missense_Mutation_p.S105L|UBAP2L_uc021pad.1_Missense_Mutation_p.S105L|UBAP2L_uc010pem.1_Missense_Mutation_p.S105L|UBAP2L_uc010pen.2_Missense_Mutation_p.S9L	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	106					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGGGAGTCTCAGGCCAGAAG	0.502000														51			14		0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150883947	150883947	+	Missense_Mutation	SNP	C	T	T	rs104886490	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150883947C>T	uc003wjm.1	-	0	532	c.271G>A	c.(271-273)Gac>Aac	p.D91N	ASB10_uc003wjl.1_Missense_Mutation_p.D91N|ASB10_uc003wjn.1_Intron	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	91					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCTCTGGGTCGCTGGTATCA	0.637000														27			7		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121643197	121643197	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121643197G>A	uc003eep.2	+	12	1156	c.1003_splice	c.e12-1	p.G335_splice	SLC15A2_uc011bjn.1_Splice_Site_p.G304_splice	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	335					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AAATGTTTCAGGGGTTTTTTG	0.363000														157			56		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76919504	76919504	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:76919504C>T	uc001oyb.2	+	42	6158	c.5886C>T	c.(5884-5886)ttC>ttT	p.F1962F	MYO7A_uc001oyc.2_Silent_p.F1924F|MYO7A_uc001oye.2_Non-coding_Transcript	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1962	FERM 2.		Missing (in USH1B).		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						ATGACTTCTTCTTTGACTTTG	0.527000														13			3		0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242814637	242814637	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242814637C>T	uc010fzu.1	+	1	953	c.930C>T	c.(928-930)tcC>tcT	p.S310S		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	310						integral to membrane											GCCCCATCTCCCTCAACAATG	0.662000														61			25		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34888154	34888154	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:34888154C>A	uc003teh.1	+	7	1032	c.904C>A	c.(904-906)Ctt>Att	p.L302I	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.L302I|NPSR1_uc010kwt.1_Missense_Mutation_p.L149I|NPSR1_uc010kwu.1_Missense_Mutation_p.L92I|NPSR1_uc010kwv.1_Missense_Mutation_p.L236I|NPSR1_uc003tei.1_Missense_Mutation_p.L302I|NPSR1_uc010kww.1_Missense_Mutation_p.L291I|NPSR1_uc011kar.1_Missense_Mutation_p.L236I	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	302						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TTTCAACCTCCTTCCAGACAC	0.493000														283			23		2.21704e-12	2.22653e-12	1	1	0
FMN2	56776	broad.mit.edu	37	1	240370636	240370636	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240370636G>A	uc010pye.2	+	5	2761	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K	FMN2_uc010pyd.2_Missense_Mutation_p.E842K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	842	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.E985K(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AACCAGCCACGAACACTCTGT	0.557000														90			27		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740549	37740549	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:37740549C>T	uc004aag.1	+	14	2068	c.2024C>T	c.(2023-2025)tCc>tTc	p.S675F	FRMPD1_uc004aah.1_Missense_Mutation_p.S675F|FRMPD1_uc011lqm.2_Missense_Mutation_p.S497F|FRMPD1_uc011lqn.2_Missense_Mutation_p.S544F	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	675						cytoskeleton|cytosol|plasma membrane		p.S675S(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACAGAGTTTTCCGAGAGTGCT	0.582000														37			6		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848305	215848305	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:215848305G>A	uc001hku.1	-	62	13335	c.12948C>T	c.(12946-12948)ttC>ttT	p.F4316F		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4316	Fibronectin type-III 28.				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)		CAGTGTAATTGAAAGTCACAG	0.448000										HNSCC(13;0.011)				125			59		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95159188	95159188	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95159188G>A	uc001kin.3	-	12	1305	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	MYOF_uc001kio.3_Silent_p.L394L|MYOF_uc001kip.4_Silent_p.L394L|MYOF_uc009xuf.2_Silent_p.L376L	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	394	C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGGATCCACGAGATTTTTCT	0.348000														36			19		0	0	1	0	0
C12orf76	400073	broad.mit.edu	37	12	110495058	110495058	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:110495058G>A	uc001tqd.1	-	3	600	c.235C>T	c.(235-237)Cct>Tct	p.P79S	C12orf76_uc001tqe.1_Non-coding_Transcript|C12orf76_uc010sxx.1_Non-coding_Transcript|C12orf76_uc001tqf.1_Intron	NM_207435	NP_997318	Q8N812	CL076_HUMAN	Homo sapiens chromosome 12 open reading frame 76 (C12orf76), mRNA.	79										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						AGCTCTGCAGGGAGGATGTGC	0.502000														34			16		0	0	1	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74367329	74367329	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74367329G>A	uc002axa.1	-	10	902	c.861C>T	c.(859-861)tcC>tcT	p.S287S	DQ596164_uc021sqd.1_5'Flank	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA.	287										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GGGGCGCCAGGGATGGGGGCT	0.552000														108			29		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754602	76754602	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:76754602G>A	uc002lmt.3	+	1	2611	c.2611G>A	c.(2611-2613)Gag>Aag	p.E871K	SALL3_uc010dra.3_Missense_Mutation_p.E478K	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	871					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGGGTCCGGGGAGAGTGACCG	0.677000														63			15		0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	78458947	78458947	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:78458947C>T	uc002ffk.3	+	6	1135	c.786C>T	c.(784-786)tcC>tcT	p.S262S	WWOX_uc002ffl.3_Intron|WWOX_uc010che.3_Intron|WWOX_uc010vnk.2_Silent_p.S149S	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	Homo sapiens WW domain containing oxidoreductase (WWOX), transcript variant 1, mRNA.	262	Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).				Wnt receptor signaling pathway|apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CCTCAGAGTCCCATCGGTGGG	0.463000														100			26		0	0	1	0	0
HIATL1	84641	broad.mit.edu	37	9	97209106	97209106	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:97209106C>T	uc004aur.3	+	7	999	c.730_splice	c.e7-1	p.S244_splice	HIATL1_uc011luh.2_Splice_Site_p.S179_splice	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	Homo sapiens hippocampus abundant transcript-like 1 (HIATL1), mRNA.	244					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TATTCTCAGTCGTTGAAGAAA	0.353000														68			15		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35740337	35740337	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35740337G>A	uc003jjo.3	+	22	3409	c.3298G>A	c.(3298-3300)Gaa>Aaa	p.E1100K	SPEF2_uc003jjp.1_Missense_Mutation_p.E586K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1100					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGATGATGAGGAAACAAAGGC	0.453000														121			56		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23898557	23898557	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23898557C>T	uc001wjx.3	-	13	1245	c.1139_splice	c.e13-1	p.E380_splice		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	380	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTGTCAGCCTCTGGAAGGAAA	0.557000														50			26		0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13729486	13729486	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:13729486T>C	uc001mld.3	+	3	560	c.405T>C	c.(403-405)ctT>ctC	p.L135L	FAR1_uc009ygp.3_Silent_p.L135L	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	Homo sapiens fatty acyl CoA reductase 1 (FAR1), mRNA.	135					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CGCGACAGCTTATTCTCCTTG	0.353000														53			22		0	0	1	0	0
C11orf71	54494	broad.mit.edu	37	11	114270917	114270917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:114270917G>A	uc001pot.1	-	0	223	c.137C>T	c.(136-138)cCt>cTt	p.P46L	C11orf71_uc001pou.4_Missense_Mutation_p.P46L|RBM7_uc001pov.3_5'Flank|RBM7_uc001pox.3_5'Flank|RBM7_uc001pow.3_5'Flank	NM_019021	NP_061894	Q6IPW1	CK071_HUMAN	Homo sapiens chromosome 11 open reading frame 71 (C11orf71), mRNA.	46										large_intestine(3)|lung(1)	4		all_cancers(61;1.15e-11)|all_epithelial(67;5.3e-06)|all_hematologic(158;0.000303)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.6e-06)|Epithelial(105;4.31e-05)|all cancers(92;0.00036)		AATCGCTTCAGGCCTGGAAAC	0.662000														24			8		0	0	1	0	0
LOC647264	0	broad.mit.edu	37	13	64321066	64321066	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:64321066G>A	uc010thk.1	+	0		c.107G>A								Homo sapiens hypothetical LOC647264, mRNA (cDNA clone MGC:189721 IMAGE:9057045), complete cds.																		ctgtggctatggctgtggcta	0.557000														29			11		0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77907015	77907015	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:77907015C>T	uc002bct.1	-	1	1286	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	LINGO1_uc002bcu.1_Missense_Mutation_p.D406N	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 1 (LINGO1), mRNA.	412	Ig-like C2-type.|LRRCT.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						AGTAGCACATCAGGGAAGTCC	0.652000														32			4		0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56436015	56436015	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56436015G>A	uc002iwf.3	-	7	3078	c.1122C>T	c.(1120-1122)ccC>ccT	p.P374P	RNF43_uc010wnv.2_Silent_p.P333P|RNF43_uc002iwh.4_Silent_p.P374P|RNF43_uc002iwg.4_Silent_p.P374P|RNF43_uc010dcw.3_Silent_p.P247P	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	374						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGGCAGGAAGGGACCAGGTC	0.687000														3			4		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156882382	156882382	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156882382C>T	uc001fqj.1	+	16	2293	c.2177C>T	c.(2176-2178)cCc>cTc	p.P726L	PEAR1_uc001fqk.1_Missense_Mutation_p.P351L	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	726						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)					TGTGTATGTCCCCCAGGGCAC	0.602000														55			21		0	0	1	0	0
NXPH4	11247	broad.mit.edu	37	12	57619434	57619434	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57619434C>T	uc010srf.2	+	1	1006	c.831C>T	c.(829-831)atC>atT	p.I277I	NXPH4_uc009zpj.3_Silent_p.I83I	NM_007224	NP_009155	O95158	NXPH4_HUMAN	Homo sapiens neurexophilin 4 (NXPH4), mRNA.	277	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TCAAAGTCATCTGTATCTTCG	0.572000														68			16		0	0	1	0	0
CALB1	793	broad.mit.edu	37	8	91075654	91075654	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:91075654C>T	uc003yel.1	-	6	668	c.486G>A	c.(484-486)ctG>ctA	p.L162L	CALB1_uc011lge.1_Silent_p.L105L	NM_004929	NP_004920	P05937	CALB1_HUMAN	Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.	162	EF-hand 4.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CAGTTAATTCCAGCTTCCCAT	0.313000														51			12		0	0	1	0	0
TREH	11181	broad.mit.edu	37	11	118529660	118529660	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118529660C>T	uc001pty.1	-	12	1544	c.1499G>A	c.(1498-1500)cGa>cAa	p.R500Q	TREH_uc009zaj.1_Missense_Mutation_p.R469Q|TREH_uc001ptz.1_Missense_Mutation_p.R377Q	NM_007180	NP_009111	O43280	TREA_HUMAN	Homo sapiens trehalase (brush-border membrane glycoprotein) (TREH), mRNA.	500					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	p.R500P(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		AAAATTGGTTCGGATCCAATT	0.587000														139			67		0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25312259	25312259	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:25312259C>T	uc001isi.4	+	2	436	c.107C>T	c.(106-108)aCc>aTc	p.T36I	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Missense_Mutation_p.T36I	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	36					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	CTTTCAAGAACCTTTGCACTT	0.388000														99			36		0	0	1	0	0
DBT	1629	broad.mit.edu	37	1	100672014	100672014	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:100672014G>A	uc001dta.3	-	8	1229	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	DBT_uc010oug.2_Missense_Mutation_p.S218F	NM_001918	NP_001909	P11182	ODB2_HUMAN	Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.	399					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TCCAATGTTGGAAAGAGTAAA	0.373000														159			55		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28725631	28725631	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28725631G>A	uc002kwn.3	-	6	1144	c.882C>T	c.(880-882)ttC>ttT	p.F294F	DSC1_uc002kwm.3_Silent_p.F294F	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	294	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GGTGTATGGAGAAATGCTTTG	0.393000														153			15		0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108565964	108565964	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108565964G>A	uc003dxi.1	+	3	346	c.202G>A	c.(202-204)Gat>Aat	p.D68N	TRAT1_uc010hpx.1_Missense_Mutation_p.D31N	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	68					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TAACTTAGATGATATGATTTC	0.259000														80			17		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538849	55538849	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55538849C>T	uc003xsd.1	+	3	2555	c.2407C>T	c.(2407-2409)Cct>Tct	p.P803S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	803					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAAAGTGTTTCCTCACAATGA	0.299000														43			20		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51382663	51382663	+	Silent	SNP	G	A	A	rs151022264		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:51382663G>A	uc001wyu.3	-	9	1246	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	PYGL_uc010tqq.2_Silent_p.F339F|PYGL_uc010anz.1_Silent_p.F179F	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	373					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TGGTGTAGGCGAAGGTCTTCT	0.592000														60			11		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28586965	28586965	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28586965G>A	uc002kwj.4	-	11	1951	c.1796C>T	c.(1795-1797)cCt>cTt	p.P599L	DSC3_uc002kwi.4_Missense_Mutation_p.P599L	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	599	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.P599P(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AGGTTCATCAGGATCAACAGC	0.368000														45			28		0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67691229	67691229	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:67691229C>T	uc001stn.2	+	4	971	c.534C>T	c.(532-534)acC>acT	p.T178T	CAND1_uc001sto.2_5'Flank	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	178					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CAATTCTGACCTGTCTACTTC	0.393000														176			74		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306200	54306200	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54306200G>A	uc021smr.1	+	0	1100	c.1100G>A	c.(1099-1101)aGa>aAa	p.R367K	UNC13C_uc021sms.1_Missense_Mutation_p.R367K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	367					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R367*(1)		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)		GGACACCAGAGAGACTGCCCA	0.383000														66			5		0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713033	32713033	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32713033G>A	uc003obx.3	+	1	238	c.180G>A	c.(178-180)gtG>gtA	p.V60V		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	60	Alpha-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGTTCTATGTGGACCTGGAGA	0.483000														170			48		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1081113	1081113	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1081113A>G	uc001lsx.1	+	10	1436	c.1409A>G	c.(1408-1410)gAg>gGg	p.E470G		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	470	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGCTCAACGAGCTGCAGGTG	0.667000														45			8		0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101656712	101656712	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:101656712G>A	uc010fiv.3	-	5	1094	c.963C>T	c.(961-963)ttC>ttT	p.F321F	TBC1D8_uc010yvw.2_Silent_p.F336F|TBC1D8_uc002tau.4_Silent_p.F78F	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	321	GRAM 2.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TGTCAGAGGCGAACATCCGCC	0.582000														47			22		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196689128	196689128	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196689128C>T	uc002utj.4	-	48	9243	c.9142G>A	c.(9142-9144)Gaa>Aaa	p.E3048K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3048	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L3047S(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGAAGAGGTTCCAAAATAGGA	0.353000														119			30		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50724778	50724778	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:50724778G>A	uc021vhh.1	-	12	3493	c.2572C>T	c.(2572-2574)Ctt>Ttt	p.L858F	NRXN1_uc002rxb.4_Missense_Mutation_p.L530F|NRXN1_uc021vhg.1_Missense_Mutation_p.L898F|NRXN1_uc021vhi.1_Missense_Mutation_p.L894F|NRXN1_uc021vhj.1_Missense_Mutation_p.L854F|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	858	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACAGAAGAAAGATACCGTCGT	0.408000														58			22		0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71531781	71531781	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:71531781C>T	uc009zrt.1	-	4	558	c.396G>A	c.(394-396)ggG>ggA	p.G132G	TSPAN8_uc001swk.1_Silent_p.G132G|TSPAN8_uc001swj.1_Silent_p.G132G	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	132					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TTTCACTTTCCCCTGTGGCGC	0.353000														114			33		0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35478537	35478537	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:35478537C>T	uc003anj.3	+	1	1207	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R86C(4)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCGGAGGGTTCGTACCACCTT	0.557000														101			35		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38516844	38516844	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:38516844C>T	uc002yvz.3	+	20	1897	c.1792C>T	c.(1792-1794)Cac>Tac	p.H598Y	TTC3_uc011aee.1_Missense_Mutation_p.H288Y|TTC3_uc002ywa.3_Missense_Mutation_p.H598Y|TTC3_uc002ywb.3_Missense_Mutation_p.H598Y|TTC3_uc010gnf.3_Missense_Mutation_p.H363Y|TTC3_uc002ywc.3_Missense_Mutation_p.H288Y|TTC3_uc011aed.1_Missense_Mutation_p.H288Y|TTC3_uc010gne.1_Missense_Mutation_p.H598Y	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	598					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGCTCTCAATCACTTTGAGAA	0.348000														143			11		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909381	123909381	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123909381C>T	uc001pzq.1	-	0	328	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E110*(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGGAAACACTCGGTGCTCCCC	0.552000														81			53		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807307	143807307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143807307C>T	uc011ktz.2	+	0	632	c.632C>T	c.(631-633)tCc>tTc	p.S211F		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GGGCCTCTTTCCTTGATTCTG	0.527000														169			61		0	0	1	0	0
OGFRL1	79627	broad.mit.edu	37	6	72006513	72006513	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:72006513C>T	uc003pfx.1	+	5	848	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	Homo sapiens opioid growth factor receptor-like 1 (OGFRL1), mRNA.	229						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						ATTTCAGCATCTGAATGAGTA	0.408000														64			6		0	0	1	0	0
LOC442132	442132	broad.mit.edu	37	5	7304345	7304345	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:7304345C>T	uc003jdy.2	-	3		c.366_splice	c.e3+1							Homo sapiens golgin A6 family-like 1 pseudogene (LOC442132), non-coding RNA.																		ATCATGTTACCTCTTTCAGCT	0.557000														13			7		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33144259	33144259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33144259G>A	uc003ocx.1	-	26	2348	c.2120C>T	c.(2119-2121)cCc>cTc	p.P707L	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P621L|COL11A2_uc003ocz.1_Missense_Mutation_p.P600L	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	707	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGGTCCAGAGGGACCCTGGAA	0.547000														23			10		0	0	1	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111626048	111626048	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:111626048G>A	uc001plw.1	-	5	898	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	PPP2R1B_uc010rwi.1_Missense_Mutation_p.R208C|PPP2R1B_uc001plx.1_Missense_Mutation_p.R272C|PPP2R1B_uc010rwk.1_Missense_Mutation_p.R272C|PPP2R1B_uc010rwl.1_Missense_Mutation_p.R145C|PPP2R1B_uc010rwj.1_Missense_Mutation_p.R111C	NM_181699	NP_859050	P30154	2AAB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA.	272							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		ACCATATAGCGAACGCGCCAA	0.408000														103			37		0	0	1	0	0
GIT1	28964	broad.mit.edu	37	17	27909760	27909760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:27909760G>A	uc002heg.2	-	3	575	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S	GIT1_uc002hef.2_Missense_Mutation_p.P121S|GIT1_uc010wbg.1_Missense_Mutation_p.P121S	NM_001085454	NP_001078923	Q9Y2X7	GIT1_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 1 (GIT1), transcript variant 1, mRNA.	121	Arf-GAP.			P -> S (in Ref. 1; AAD28046).	regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TCCCGGCAGGGAAGCTTGTGC	0.587000														21			15		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057962	9057962	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9057962G>A	uc002mkp.3	-	2	29688	c.29484C>T	c.(29482-29484)tcC>tcT	p.S9828S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9830	Ser-rich.|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						CTAGGACAGAGGAATGAGATT	0.458000														67			26		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096346	51096346	+	Missense_Mutation	SNP	G	A	A	rs138592316		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:51096346G>A	uc003tps.3	-	10	2803	c.2618C>T	c.(2617-2619)cCc>cTc	p.P873L	COBL_uc003tpr.4_Missense_Mutation_p.P816L|COBL_uc011kcl.2_Missense_Mutation_p.P816L|COBL_uc003tpp.4_Missense_Mutation_p.P602L|COBL_uc003tpq.4_Missense_Mutation_p.P757L|COBL_uc003tpo.4_Missense_Mutation_p.P358L	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	816										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTTCTGCTGGGGCGATATTGG	0.657000														52			11		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23238964	23238964	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:23238964G>A	uc009vqj.1	+	14	2869	c.2724G>A	c.(2722-2724)acG>acA	p.T908T	EPHB2_uc001bge.3_Silent_p.T909T|EPHB2_uc001bgf.3_Silent_p.T908T|EPHB2_uc010odu.2_Silent_p.T850T	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	908					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TGGACCGCACGATCCCCGACT	0.617000														80			23		0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183756207	183756207	+	Silent	SNP	C	T	T	rs139778852		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183756207C>T	uc011bqv.2	+	6	930	c.930C>T	c.(928-930)ttC>ttT	p.F310F	HTR3D_uc003fmj.3_Silent_p.F135F|HTR3D_uc011bqu.2_Silent_p.F260F|HTR3D_uc010hxp.3_Silent_p.F89F	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.	310						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTGTCTACTTCGCCCTGTGCC	0.587000														77			29		0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1801497	1801497	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:1801497G>A	uc003gdr.3	+	3	659	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	FGFR3_uc003gdu.2_Missense_Mutation_p.E135K|FGFR3_uc003gds.3_Missense_Mutation_p.E135K|FGFR3_uc003gdq.3_Missense_Mutation_p.E135K|FGFR3_uc010icb.1_5'Flank|FGFR3_uc003gdt.1_5'Flank	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	135					JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGGAGATGACGAAGACGGGGA	0.682000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					42			5		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52946055	52946055	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:52946055G>A	uc003gzl.3	+	8	1603	c.1325G>A	c.(1324-1326)gGa>gAa	p.G442E	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.G410E|SPATA18_uc003gzk.1_Missense_Mutation_p.G442E	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	442					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ATTGCATATGGAGCAGATGGA	0.418000														160			53		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854106	12854106	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12854106G>A	uc001auj.2	+	2	433	c.330G>A	c.(328-330)gaG>gaA	p.E110E		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	110								p.E110*(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTTGACGAGAATTTCTGGG	0.542000														591			126		0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628328	173628328	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:173628328C>T	uc001gja.1	-	1	291	c.230G>A	c.(229-231)gGg>gAg	p.G77E	ANKRD45_uc001gjb.4_Missense_Mutation_p.G77E	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	93										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CAAATTTCTCCCAACGATGTC	0.443000														110			42		0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47337533	47337533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:47337533C>T	uc010gqb.3	+	10	970	c.707C>T	c.(706-708)cCt>cTt	p.P236L	PCBP3_uc002zhp.2_Missense_Mutation_p.P236L|PCBP3_uc010gqc.2_Silent_p.P302P|PCBP3_uc002zhq.2_Missense_Mutation_p.P236L|PCBP3_uc002zhs.2_Missense_Mutation_p.P211L|PCBP3_uc002zht.2_Missense_Mutation_p.P227L	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	236					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TATGCCATCCCTCACCCGGAT	0.527000														77			36		0	0	1	0	0
TST	7263	broad.mit.edu	37	22	37407092	37407092	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37407092G>A	uc003aqg.3	-	1	1565	c.870C>T	c.(868-870)tcC>tcT	p.S290S	TST_uc003aqh.3_Silent_p.S290S	NM_003312	NP_003303	Q16762	THTR_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese) (TST), nuclear gene encoding mitochondrial protein, mRNA.	290					cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						ACTTTCCCTGGGACACACGGC	0.602000														103			32		0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79165041	79165041	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:79165041G>A	uc002jzp.1	-	21	2926	c.2726C>T	c.(2725-2727)gCc>gTc	p.A909V	AZI1_uc002jzm.1_Missense_Mutation_p.A341V|AZI1_uc002jzn.1_Missense_Mutation_p.A906V|AZI1_uc002jzo.1_Missense_Mutation_p.A870V|AZI1_uc010wum.1_Missense_Mutation_p.A873V|AZI1_uc002jzq.3_Missense_Mutation_p.A57V	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	909					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGCCATGTCGGCCTCCAGCCG	0.652000														100			37		0	0	1	0	0
MSX2	4488	broad.mit.edu	37	5	174156247	174156247	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:174156247C>T	uc003mcy.3	+	1	553	c.465C>T	c.(463-465)ctC>ctT	p.L155L		NM_002449	NP_002440	P35548	MSX2_HUMAN	Homo sapiens msh homeobox 2 (MSX2), mRNA.	155					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCCAGCTCCTCGCCCTGGAGC	0.552000														45			18		0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154516910	154516910	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154516910C>T	uc009wow.3	+	9	1552	c.714C>T	c.(712-714)ccC>ccT	p.P238P	TDRD10_uc001ffd.3_Silent_p.P238P|TDRD10_uc001ffe.3_Silent_p.P159P	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	238	Tudor.						RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCAGCAGCCCTACCTGGAGG	0.637000														11			4		0	0	1	0	0
DDX41	51428	broad.mit.edu	37	5	176939611	176939611	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176939611G>A	uc003mho.3	-	13	1456	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	DOK3_uc003mhi.4_5'Flank|DOK3_uc003mhj.4_5'Flank|DOK3_uc003mhk.3_5'Flank|DDX41_uc003mhn.3_Missense_Mutation_p.R348W|DDX41_uc003mhp.3_Missense_Mutation_p.R348W	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	479	Helicase C-terminal.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TTGCCCTCCCGGAATGCCTCG	0.597000														77			5		0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134183896	134183896	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:134183896G>A	uc009zdf.3	+	16	2001	c.1641G>A	c.(1639-1641)ctG>ctA	p.L547L	GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	547					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCTATTCCCTGGAGATGAAAA	0.483000														20			4		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760565	92760565	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92760565C>T	uc003umh.1	-	4	5936	c.4720G>A	c.(4720-4722)Gaa>Aaa	p.E1574K	SAMD9L_uc003umj.1_Missense_Mutation_p.E1574K|SAMD9L_uc003umi.1_Missense_Mutation_p.E1574K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E1574K|SAMD9L_uc003umk.1_Missense_Mutation_p.E1574K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E1574K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E1574K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E1574K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1574										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAGGGCCTTCAATGGAAAAT	0.323000														51			21		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210977336	210977336	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:210977336G>A	uc001hib.2	-	7	1805	c.1635C>T	c.(1633-1635)tcC>tcT	p.S545S	KCNH1_uc001hic.2_Silent_p.S518S	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	545					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTCTGGACATGGACCAAGTGG	0.483000														113			39		0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207620226	207620226	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:207620226G>A	uc002vbs.3	-	4	472	c.417C>T	c.(415-417)gcC>gcT	p.A139A	MDH1B_uc010ziw.2_Intron|MDH1B_uc002vbt.3_Intron|MDH1B_uc010fui.3_Silent_p.A139A|MDH1B_uc021vvm.1_Silent_p.A41A	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	139					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAGGAGCAGAGGCACTGATAA	0.398000														70			22		0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40557273	40557273	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:40557273G>A	uc002hzo.3	-	1	828	c.605C>T	c.(604-606)tCg>tTg	p.S202L	PTRF_uc010wgi.2_Missense_Mutation_p.S184L	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	Homo sapiens polymerase I and transcript release factor (PTRF), mRNA.	202					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CTCGTCCGACGAAAGCTCCAG	0.667000														109			83		0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84784977	84784977	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:84784977G>A	uc010fgb.3	+	10	1858	c.1721G>A	c.(1720-1722)gGa>gAa	p.G574E	DNAH6_uc002soo.3_Missense_Mutation_p.G153E|DNAH6_uc002sop.3_Missense_Mutation_p.G153E	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	574	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AAACTTGAAGGAAAAACCTGT	0.358000														148			23		0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3119355	3119355	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3119355G>A	uc002ctq.3	+	5	799	c.704G>A	c.(703-705)tGa>tAa	p.*235*	IL32_uc002ctn.3_Silent_p.*189*|IL32_uc002ctk.3_Silent_p.*132*|IL32_uc002cto.3_Silent_p.*235*|IL32_uc010uwp.2_Silent_p.*169*|IL32_uc010btb.3_Silent_p.*179*|IL32_uc002ctl.3_Silent_p.*189*|IL32_uc002ctm.3_Silent_p.*189*|IL32_uc002ctp.3_Silent_p.*169*|IL32_uc002ctr.3_Silent_p.*169*|IL32_uc002ctt.3_Silent_p.*189*|IL32_uc010uwr.2_Silent_p.*149*|IL32_uc002ctu.3_Silent_p.*180*|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	0					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						TCCTCAAAATGAAGATACTGA	0.617000														186			20		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61570930	61570930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61570930G>A	uc002jau.2	+	19	3080	c.3046G>A	c.(3046-3048)Gag>Aag	p.E1016K	ACE_uc010wpj.2_Missense_Mutation_p.E442K|ACE_uc010ddv.2_Missense_Mutation_p.E243K|ACE_uc002jav.2_Missense_Mutation_p.E442K|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.E262K	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1016	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)	CGGCTTCCATGAGGCCATTGG	0.592000														74			10		0	0	1	0	0
SMTNL2	342527	broad.mit.edu	37	17	4500472	4500472	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:4500472G>A	uc002fyf.1	+	6	1180	c.1113G>A	c.(1111-1113)gtG>gtA	p.V371V	SMTNL2_uc002fye.2_Silent_p.V227V	NM_001114974	NP_940903	Q2TAL5	SMTL2_HUMAN	Homo sapiens smoothelin-like 2 (SMTNL2), transcript variant 1, mRNA.	371	CH.									breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		TGCAGCACGTGGACCTGCAGA	0.612000														26			19		0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60375621	60375621	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:60375621G>A	uc001czq.3	-	4	701	c.696C>T	c.(694-696)gtC>gtT	p.V232V		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	232					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TCCATGGAAAGACATTGTAGA	0.358000														31			13		0	0	1	0	0
CCRL2	9034	broad.mit.edu	37	3	46450311	46450311	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46450311C>T	uc010hjg.3	+	1	890	c.777C>T	c.(775-777)ttC>ttT	p.F259F	CCRL2_uc003cpp.4_Silent_p.F247F|CCRL2_uc010hjf.3_Silent_p.F247F|CCRL2_uc021wxc.1_Silent_p.F247F	NM_001130910	NP_003956	O00421	CCRL2_HUMAN	Homo sapiens chemokine (C-C motif) receptor-like 2 (CCRL2), transcript variant 2, mRNA.	247					chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TGGTAGTCTTCCTTCTGATGT	0.403000														384			144		0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47282381	47282381	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:47282381C>T	uc010hjp.3	-	17	2438	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	KIF9_uc003cqx.3_Missense_Mutation_p.E612K|KIF9_uc003cqy.3_Missense_Mutation_p.E547K|KIF9_uc011bat.1_Non-coding_Transcript|FLJ39534_uc003cqw.2_Intron	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	612					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGTGTGGTCTCGCTGGCCCTT	0.458000														90			41		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19480431	19480431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:19480431G>A	uc001bbi.3	-	44	6465	c.6461C>T	c.(6460-6462)tCc>tTc	p.S2154F	UBR4_uc001bbk.1_5'Flank|UBR4_uc001bbl.1_Missense_Mutation_p.S91F|UBR4_uc001bbm.1_Missense_Mutation_p.S1366F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2154					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCCACCATTGGAACTGCAGAC	0.493000														79			34		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179643967	179643967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179643967G>A	uc021vsy.1	-	22	4177	c.3952C>T	c.(3952-3954)Cca>Tca	p.P1318S	TTN_uc021vsz.1_Missense_Mutation_p.P1272S|TTN_uc021vta.1_Missense_Mutation_p.P1272S|TTN_uc021vtb.1_Missense_Mutation_p.P1272S|TTN_uc002unb.2_Missense_Mutation_p.P1318S|AK123298_uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1318	Ig-like 5.						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)			TTTGGTAATGGATATCCAGAC	0.303000														48			20		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529548	57529548	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:57529548G>T	uc011kdi.1	+	3	1493	c.1381G>T	c.(1381-1383)Gag>Tag	p.E461*		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TCATACTGGAGAGAAACCCTA	0.358000														10			7		2.0095e-06	2.0134e-06	1	1	0
LRP2	4036	broad.mit.edu	37	2	170103479	170103479	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170103479G>A	uc002ues.3	-	20	3139	c.2926C>T	c.(2926-2928)Caa>Taa	p.Q976*	LRP2_uc010zdf.1_Nonsense_Mutation_p.Q839*	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	976	EGF-like 4.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGCGTGGGTTGATTACAGGCG	0.502000														34			8		0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406335	55406335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55406335G>A	uc010rij.2	+	0	502	c.502G>A	c.(502-504)Ggc>Agc	p.G168S		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G168V(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ACCATTTTGTGGCCCAAATGA	0.388000														66			29		0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128873892	128873892	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:128873892C>T	uc002tps.3	+	7	1025	c.847C>T	c.(847-849)Cag>Tag	p.Q283*	UGGT1_uc010fme.1_Nonsense_Mutation_p.Q158*|UGGT1_uc002tpr.3_Nonsense_Mutation_p.Q259*	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	283					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGATGAGGTTCAGGGGTTCCT	0.353000														69			25		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540351	169540351	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:169540351G>A	uc003fgb.3	+	0	642	c.642G>A	c.(640-642)caG>caA	p.Q214Q		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	214										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CGGGGCTGCAGAAGTTCTATA	0.532000														93			44		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080136	57080136	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57080136G>A	uc001njr.3	-	3	2338	c.2026C>T	c.(2026-2028)Cca>Tca	p.P676S	TNKS1BP1_uc001njs.3_Missense_Mutation_p.P676S|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.P127S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	676	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCAGGGCCTGGAGGCTCGGGG	0.662000														46			20		0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42821107	42821107	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42821107G>A	uc002otk.1	+	10	944	c.892G>A	c.(892-894)Gag>Aag	p.E298K		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	298						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GCTCATCTACGAGGCGGAAGT	0.657000														29			11		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39549961	39549961	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:39549961G>A	uc010oir.2	+	1	250	c.58G>A	c.(58-60)Gat>Aat	p.D20N	MACF1_uc021ols.1_Missense_Mutation_p.R24Q|MACF1_uc001cdc.2_Missense_Mutation_p.R24Q|MACF1_uc021olt.1_Missense_Mutation_p.R24Q			Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	0	Actin-binding.				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGGAGTGAGCGATCTTACAGG	0.627000														59			24		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117685228	117685228	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117685228G>A	uc001twn.2	-	18	3561	c.2850C>T	c.(2848-2850)atC>atT	p.I950I	NOS1_uc021ren.1_Silent_p.I580I|NOS1_uc021reo.1_Silent_p.I580I|NOS1_uc001twm.2_Silent_p.I916I	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	916					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCATCTTCAGGATCCTCTCCC	0.557000														85			40		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802863	185802863	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:185802863C>T	uc002uph.3	+	3	3334	c.2740C>T	c.(2740-2742)Ccc>Tcc	p.P914S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	914						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTCCAATGATCCCACCACATC	0.398000														75			22		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165861	151165861	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151165861G>A	uc011bod.2	-	3	1908	c.1908C>T	c.(1906-1908)acC>acT	p.T636T		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	636	Ig-like C2-type 2.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTCTTTCGGGGTGACCTGTA	0.418000														95			31		0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207429762	207429762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:207429762C>T	uc002vbq.3	+	13	1587	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	455	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGCACAGAATCCTGGGGTGGC	0.363000														101			34		0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6374257	6374257	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:6374257C>T	uc003gja.3	-	4	642	c.618G>A	c.(616-618)agG>agA	p.R206R	PPP2R2C_uc003gjb.3_Silent_p.R189R|PPP2R2C_uc003gjc.3_Silent_p.R206R|PPP2R2C_uc011bwd.2_Silent_p.R199R|PPP2R2C_uc011bwe.2_Silent_p.R199R|PPP2R2C_uc003gjd.1_Silent_p.R294R	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	206					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TACTGAAGCTCCTGTCGGTGA	0.577000														57			27		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22182404	22182404	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22182404G>A	uc009vqd.3	-	45	5619	c.5579_splice	c.e45-1	p.A1860_splice	HSPG2_uc001bfj.3_Splice_Site_p.A1859_splice	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1859	Ig-like C2-type 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGGTGCCCGAGGCTGACAAGG	0.632000														33			15		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554463	20554463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20554463G>A	uc002dhj.4	-	11	1613	c.1403C>T	c.(1402-1404)tCc>tTc	p.S468F	ACSM2B_uc002dhk.4_Missense_Mutation_p.S468F|ACSM2B_uc010bwf.1_Missense_Mutation_p.S468F	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	468					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCACCCGCTGGAGTTAATGAT	0.512000														385			68		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142565412	142565412	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142565412C>T	uc011kst.2	+	11	2584	c.1797C>T	c.(1795-1797)tcC>tcT	p.S599S	EPHB6_uc011ksu.2_Silent_p.S599S|EPHB6_uc003wbs.3_Silent_p.S307S|EPHB6_uc003wbt.3_Silent_p.S73S|EPHB6_uc003wbu.3_Silent_p.S307S|EPHB6_uc003wbv.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	599						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGATCGGCTCCATCCTGGGGG	0.657000														14			8		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48567670	48567670	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:48567670G>A	uc003gyh.1	-	28	3813	c.3208C>T	c.(3208-3210)Cgt>Tgt	p.R1070C	FRYL_uc003gyk.3_Missense_Mutation_p.R1070C|FRYL_uc003gyi.1_5'Flank	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1070					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGACTGTGACGAAGGCTCTGT	0.353000														44			14		0	0	1	0	0
LHFPL1	340596	broad.mit.edu	37	X	111914257	111914257	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:111914257C>T	uc004epp.3	-	0	504	c.431G>A	c.(430-432)gGa>gAa	p.G144E	LHFPL1_uc004epq.3_Missense_Mutation_p.G121E|LHFPL1_uc010nqa.3_Intron|LHFPL1_uc010nqb.3_Missense_Mutation_p.G121E	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 1 (LHFPL1), mRNA.	121						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTGCGCTGCTCCCATGCAACG	0.577000														14			26		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31332892	31332892	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31332892G>A	uc002ebr.3	+	15	2047	c.1949G>A	c.(1948-1950)gGa>gAa	p.G650E	ITGAM_uc002ebq.3_Missense_Mutation_p.G649E|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.3_Missense_Mutation_p.G55E|ITGAM_uc002ebs.1_Missense_Mutation_p.G55E	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	649					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.G649R(2)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AAGGAAGCCGGAGAGGTCAGA	0.512000														122			51		0	0	1	0	0
MDK	4192	broad.mit.edu	37	11	46403895	46403895	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:46403895G>A	uc001nco.3	+	2	350	c.128G>A	c.(127-129)gGg>gAg	p.G43E	MDK_uc009ykz.1_Missense_Mutation_p.G43E|MDK_uc001ncp.3_Missense_Mutation_p.G43E|MDK_uc009yla.3_Intron|MDK_uc009ylb.3_Splice_Site_p.G43_splice|MDK_uc001ncq.3_Missense_Mutation_p.G43E	NM_001012334	NP_002382	P21741	MK_HUMAN	Homo sapiens midkine (neurite growth-promoting factor 2) (MDK), transcript variant 1, mRNA.	43					adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction	extracellular region	growth factor activity|heparin binding			lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		TGGGCCTGGGGGCCCTGCACC	0.692000														13			5		0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	211018911	211018911	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:211018911G>A	uc002vds.3	-	1	604	c.396C>T	c.(394-396)ttC>ttT	p.F132F	KANSL1L_uc002vdt.3_Silent_p.F132F|KANSL1L_uc002vdw.3_Silent_p.F132F|KANSL1L_uc002vdy.1_Silent_p.F132F|KANSL1L_uc002vdv.3_Silent_p.F132F|KANSL1L_uc002vdx.1_Silent_p.F132F	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	Homo sapiens chromosome 2 open reading frame 67 (C2orf67), mRNA.	132																	CCTTTTTGATGAACTCTTCAG	0.368000														85			35		0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16528293	16528293	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16528293G>A	uc001ayc.1	-	13	2267	c.2130C>T	c.(2128-2130)gtC>gtT	p.V710V	ARHGEF19_uc009voo.1_Silent_p.V63V	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	710					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCACTGATGACCTCCTTGT	0.592000														29			7		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4277346	4277346	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:4277346C>T	uc003smx.3	+	41	6199	c.6060C>T	c.(6058-6060)atC>atT	p.I2020I	SDK1_uc010kso.3_Silent_p.I1276I|SDK1_uc003smy.3_Silent_p.I507I|SDK1_uc003smz.3_Silent_p.I80I	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	2020					cell adhesion	integral to membrane		p.L2019L(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCAGCCTGATCGTCATCCTGC	0.567000														85			27		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23897778	23897778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23897778C>T	uc001wjx.3	-	14	1615	c.1509G>A	c.(1507-1509)aaG>aaA	p.K503K		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	503	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGATGCCCTCCTTCTTGTACT	0.512000														112			33		0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24164462	24164462	+	Silent	SNP	G	A	A	rs144206187	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:24164462G>A	uc003ccz.4	-	11	1819	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A	THRB_uc010hfe.3_Silent_p.A433A|THRB_uc003ccy.4_Silent_p.A433A|THRB_uc003ccx.4_Silent_p.A433A	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	433	Interaction with NR2F6.|Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGCATGGCAGGCTCCTATCA	0.498000														133			63		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38968367	38968367	+	Silent	SNP	G	A	A	rs113831421		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38968367G>A	uc002oit.3	+	29	4441	c.4311G>A	c.(4309-4311)agG>agA	p.R1437R	RYR1_uc002oiu.3_Silent_p.R1437R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1437	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACTCCGTGAGGGTCTTTGCTG	0.597000														45			11		0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35700223	35700224	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35700223_35700224GG>AA	uc003zxt.2	-	48	6978_6979	c.6624_6625CC>TT	c.(6622-6627)agccgc>agTTgc	p.R2209C		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	2209					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)			ATAGCACGGCGGCTCAGATTGG	0.535000														79			9		0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189733	124189733	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124189733C>T	uc010sah.2	-	0	361	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		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;0.0525)		ACATAACGGTCATATTCCATG	0.408000														51			24		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317934	31317934	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:31317934G>A	uc003jhe.2	+	10	2145	c.1785G>A	c.(1783-1785)ggG>ggA	p.G595G	CDH6_uc003jhd.2_Silent_p.G595G	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	595	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACCACCACGGGAACATGCAAT	0.572000														42			23		0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12595318	12595318	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:12595318G>A	uc001ilo.3	+	1	422	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	CAMK1D_uc001iln.3_Missense_Mutation_p.E63K	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	63	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GAAGGGCAAGGAAAGCAGCAT	0.542000														76			32		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285203	223285203	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:223285203G>A	uc021pjl.1	-	0	1171	c.1171C>T	c.(1171-1173)Ctc>Ttc	p.L391F	TLR5_uc001hnv.2_Missense_Mutation_p.L391F|TLR5_uc001hnw.2_Missense_Mutation_p.L391F	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	391					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TTGTCTCGGAGATCCAAGGTC	0.373000														109			8		0	0	1	0	0
MFGE8	4240	broad.mit.edu	37	15	89442993	89442993	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89442993G>A	uc002bng.4	-	6	1033	c.920C>T	c.(919-921)gCc>gTc	p.A307V	MFGE8_uc002bnf.4_Missense_Mutation_p.A195V|MFGE8_uc002bnh.4_Intron|MFGE8_uc010bnn.3_Missense_Mutation_p.A299V|MFGE8_uc010upq.2_Missense_Mutation_p.A263V	NM_005928	NP_005919	Q08431	MFGM_HUMAN	Homo sapiens milk fat globule-EGF factor 8 protein (MFGE8), transcript variant 1, mRNA.	307	F5/8 type C 2.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					AAAGTTACGGGCCCCCTGGGT	0.547000														41			28		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656462	46656462	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:46656462C>T	uc003bhh.3	-	0	2758	c.2758G>A	c.(2758-2760)Gat>Aat	p.D920N		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	920					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTTTCCTGATCATTTAACCAA	0.438000														159			69		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847485	123847485	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123847485C>T	uc001pzm.1	-	0	914	c.914G>A	c.(913-915)cGg>cAg	p.R305Q		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTCCTTGTTCCGCAAAGTGTA	0.532000														89			54		0	0	1	0	0
SP7	121340	broad.mit.edu	37	12	53723042	53723042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53723042C>T	uc001sct.3	-	1	291	c.184G>A	c.(184-186)Gat>Aat	p.D62N	SP7_uc001scv.3_Missense_Mutation_p.D62N|SP7_uc001scu.3_Missense_Mutation_p.D44N	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GGATAAGCATCCCCCATGGTT	0.552000														139			44		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124351406	124351406	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124351406G>A	uc003ehg.3	+	34	5443	c.5316G>A	c.(5314-5316)acG>acA	p.T1772T	KALRN_uc003ehi.3_Silent_p.T145T|KALRN_uc003ehk.3_Silent_p.T75T|KALRN_uc003ehj.2_Silent_p.T75T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1772					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGTGGCTGACGAGTCCTGTGC	0.577000														87			18		0	0	1	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31813035	31813035	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:31813035G>A	uc002yod.3	+	0	390	c.390G>A	c.(388-390)agG>agA	p.R130R		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA.	130						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TTTCATCCAGGAATTTCCAGG	0.453000														119			44		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60904229	60904229	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:60904229G>A	uc002ycq.3	-	32	4267	c.4200C>T	c.(4198-4200)ttC>ttT	p.F1400F	LAMA5_uc021wfw.1_Silent_p.F1400F	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1400	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTGGCTGATGAAGTCATAGG	0.632000														71			26		0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850684	71850684	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:71850684C>T	uc001ory.1	+	4	723	c.673C>T	c.(673-675)Ccc>Tcc	p.P225S	FOLR3_uc001orx.1_Missense_Mutation_p.P182S			P41439	FOLR3_HUMAN	Homo sapiens folate receptor 3 (gamma) (FOLR3), mRNA.	181					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GTCCTACTTCCCCACTCCAGC	0.592000														83			18		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103377716	103377716	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:103377716C>T	uc001dum.3	-	54	4440	c.4122_splice	c.e54+1	p.R1374_splice	COL11A1_uc001duk.3_Splice_Site_p.R558_splice|COL11A1_uc001dul.3_Splice_Site_p.R1362_splice|COL11A1_uc001dun.3_Splice_Site_p.R1323_splice|COL11A1_uc009weh.3_Splice_Site_p.R1246_splice	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1362	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)		GAAACTTACTCGTTTTCCAGG	0.363000														23			8		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782276	62782276	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62782276G>A	uc009yon.3	-	1	276	c.155C>T	c.(154-156)cCc>cTc	p.P52L	SLC22A8_uc009yom.3_Intron|SLC22A8_uc001nwo.3_Missense_Mutation_p.P52L|SLC22A8_uc010rmm.2_Intron|SLC22A8_uc001nwp.2_Missense_Mutation_p.P52L	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	52					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GGCATTGTGGGGCGGGCGACA	0.627000														161			97		0	0	1	0	0
SPDYE4	388333	broad.mit.edu	37	17	8656701	8656701	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:8656701G>A	uc010cnz.1	-	4	769	c.592C>T	c.(592-594)Cga>Tga	p.R198*		NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN	Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.	198										breast(1)|endometrium(2)|kidney(1)	4						AGCTGGTATCGAAGCTTATGG	0.587000														7			3		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562712	145562712	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:145562712G>A	uc001eob.1	+	9	2508	c.2400G>A	c.(2398-2400)atG>atA	p.M800I	ANKRD35_uc010oyx.1_Missense_Mutation_p.M643I	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	800										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGCCACGATGAGCGGGAAGA	0.637000														25			9		0	0	1	0	0
ZNF80	7634	broad.mit.edu	37	3	113955468	113955468	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:113955468G>A	uc010hqo.3	-	0	958	c.454C>T	c.(454-456)Cgt>Tgt	p.R152C	ZNF80_uc003ebf.3_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	Homo sapiens zinc finger protein 80 (ZNF80), mRNA.	152						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H151N(1)|p.H151Q(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TGGGTCACACGATGCTGGATG	0.488000														84			25		0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31441270	31441270	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:31441270G>A	uc001bsi.1	-	10	1689	c.1576C>T	c.(1576-1578)Ccc>Tcc	p.P526S	PUM1_uc001bsf.1_Missense_Mutation_p.P192S|PUM1_uc001bsh.1_Missense_Mutation_p.P526S|PUM1_uc001bsj.1_Missense_Mutation_p.P527S|PUM1_uc010oga.1_Missense_Mutation_p.P430S|PUM1_uc001bsk.1_Missense_Mutation_p.P562S|PUM1_uc010ogb.1_Missense_Mutation_p.P467S|SNORD85_uc001bsl.1_5'Flank	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	526	Ala-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GCCACAAGGGGATCCGTTTGC	0.532000														60			22		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12343258	12343258	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12343258T>A	uc001atv.3	+	20	5240	c.5099T>A	c.(5098-5100)tTa>tAa	p.L1700*	VPS13D_uc001atw.3_Nonsense_Mutation_p.L1700*|VPS13D_uc001atx.3_Nonsense_Mutation_p.L888*	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1700					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCATCTAGTTTAGCACAAAAA	0.468000														113			54		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98819884	98819884	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98819884G>A	uc001kmw.2	-	9	1225	c.973C>T	c.(973-975)Cct>Tct	p.P325S	SLIT1_uc009xvh.1_Missense_Mutation_p.P325S	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	325					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCTCCAGGAGGGATGGACTTG	0.622000														75			30		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8212211	8212211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8212211C>T	uc002mjf.3	-	0	171	c.154G>A	c.(154-156)Ggc>Agc	p.G52S		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	52						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGCAAGATGCCTGGGCTGCCC	0.692000														10			4		0	0	1	0	0
SNX14	57231	broad.mit.edu	37	6	86252923	86252923	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:86252923G>A	uc003pkr.3	-	13	1559	c.1366C>T	c.(1366-1368)Cct>Tct	p.P456S	SNX14_uc003pkp.3_Missense_Mutation_p.P319S|SNX14_uc003pkq.3_Missense_Mutation_p.P71S|SNX14_uc011dzg.2_Missense_Mutation_p.P404S|SNX14_uc003pks.3_Missense_Mutation_p.P412S|SNX14_uc003pkt.3_Missense_Mutation_p.P456S	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	456	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CAGAACATAGGAGTAAATACA	0.323000														109			21		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238287447	238287447	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:238287447C>T	uc002vwl.2	-	5	2614	c.2329G>A	c.(2329-2331)Gga>Aga	p.G777R	COL6A3_uc002vwo.2_Missense_Mutation_p.G571R|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Missense_Mutation_p.G571R|COL6A3_uc002vwr.3_Missense_Mutation_p.G370R|COL6A3_uc010znk.1_Intron	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	777	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGGCTAGCTCCCACACAAAAA	0.552000														28			8		0	0	1	0	0
AK302514	0	broad.mit.edu	37	6	66013269	66013269	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:66013269G>A	uc011dxv.2	+	1	1546	c.855G>A	c.(853-855)ggG>ggA	p.G285G	EYS_uc011dxu.1_Intron					SubName: Full=cDNA FLJ60373, highly similar to Zinc finger CCCH domain-containing protein11A;																		AGACACTGGGGAAACGAAAAT	0.478000														31			22		0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112042662	112042662	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:112042662G>A	uc001ebh.4	-	1	1634	c.867C>T	c.(865-867)ttC>ttT	p.F289F	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Intron	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	289					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AGGTTTCCTTGAACTTCTTTA	0.443000														40			20		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155450443	155450443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:155450443C>T	uc003qqb.3	+	5	1359	c.86C>T	c.(85-87)tCc>tTc	p.S29F	TIAM2_uc003qqe.3_Missense_Mutation_p.S29F	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	29					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	p.C28G(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ATTCCTTGCTCCCTGAAAATA	0.448000														52			18		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23886856	23886857	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23886856_23886857GG>AA	uc001wjx.3	-	30	4314_4315	c.4208_4209CC>TT	c.(4207-4209)gcc>gTT	p.A1403V		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1403					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAGCCTCCACGGCCTCCTCAGC	0.609000														53			33		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132534831	132534831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:132534831C>T	uc003kyn.1	-	15	2703	c.2485G>A	c.(2485-2487)Ggt>Agt	p.G829S	FSTL4_uc003kym.1_Missense_Mutation_p.G478S	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	829						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCTTTATACCTGACACCTCA	0.592000														43			11		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38753876	38753876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38753876G>A	uc003ciq.3	-	21	3865	c.3865C>T	c.(3865-3867)Ctc>Ttc	p.L1289F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1289					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAGAAGATGAGGCAGACGAGG	0.537000														122			32		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807896	18807896	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:18807896C>T	uc001bax.3	+	0	473	c.421C>T	c.(421-423)Ccc>Tcc	p.P141S	KLHDC7A_uc009vpg.3_5'UTR	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	141			P -> R (in dbSNP:rs2992755).			integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTTGCTGCCCCAGCCAGGA	0.642000														47			20		0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110418764	110418764	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:110418764C>T	uc001tps.2	-	6	876	c.711G>A	c.(709-711)agG>agA	p.R237R	GIT2_uc001tpq.2_Silent_p.R237R|GIT2_uc001tpv.2_Silent_p.R237R|GIT2_uc001tpu.2_Silent_p.R237R|GIT2_uc001tpt.2_Silent_p.R237R|GIT2_uc010sxu.1_Silent_p.R175R|GIT2_uc001tpw.3_Silent_p.R237R|GIT2_uc010sxv.1_Silent_p.R237R	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	237					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CACCTGGTTTCCTGCCACAGA	0.488000														254			70		0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142542441	142542441	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:142542441C>T	uc003evd.3	-	6	1189	c.882G>A	c.(880-882)gtG>gtA	p.V294V		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	294						extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GACACAAGGCCACGGTGGGTT	0.358000														73			32		0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38230307	38230307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38230307C>T	uc002ohe.3	-	4	1153	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	ZNF573_uc010efs.2_Missense_Mutation_p.E275K|ZNF573_uc002ohd.3_Missense_Mutation_p.E360K|ZNF573_uc002ohf.3_Missense_Mutation_p.E304K|ZNF573_uc002ohg.3_Missense_Mutation_p.E274K|ZNF573_uc021utv.1_Missense_Mutation_p.E274K	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTCTTACACTCCTTACATTCA	0.378000														94			23		0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437581	125437581	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125437581C>T	uc011lzb.2	+	0	173	c.173C>T	c.(172-174)cCt>cTt	p.P58L		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						CTTCAAAACCCTATGTATTTT	0.413000														184			44		0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31206141	31206141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:31206141C>T	uc001zff.3	+	4	1949	c.1658C>T	c.(1657-1659)tCg>tTg	p.S553L	FAN1_uc001zfe.3_Missense_Mutation_p.S158L	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	553					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	p.S553L(2)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CTACTGTTTTCGTTGACCGAC	0.502000								Direct reversal of damage						73			14		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2290852	2290852	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:2290852G>A	uc002wfx.4	+	2	307	c.210G>A	c.(208-210)acG>acA	p.T70T		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	70					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CGGCCATGACGAAGGCTGTGT	0.532000														149			32		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333020	70333020	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70333020G>A	uc001oqc.3	-	20	3292	c.3180C>T	c.(3178-3180)ttC>ttT	p.F1060F	SHANK2_uc010rqn.2_Silent_p.F536F|SHANK2_uc001opz.3_Silent_p.F531F|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	747					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCTCCTCGGGGAACATGGAGG	0.667000														45			14		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715998	13715998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:13715998C>T	uc001rbt.2	-	12	4353	c.4174G>A	c.(4174-4176)Ggg>Agg	p.G1392R		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1392					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGTCGTCCCCAAAAGTGGGG	0.622000														30			13		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4432134	4432135	+	Silent	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4432134_4432135CC>TT	uc002mal.3	+	11	2233_2234	c.2133_2134CC>TT	c.(2131-2136)ttcctg>ttTTtg	p.711_712FL>FL		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	711	Binds to p60.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCTGCTTCCTGGAGACCCT	0.658000								Chromatin Structure						46			14		0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71041035	71041035	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:71041035G>A	uc003xyn.1	-	16	3667	c.3505C>T	c.(3505-3507)Cgt>Tgt	p.R1169C	NCOA2_uc011lfb.1_Missense_Mutation_p.R257C	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	1169					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGCTGCATACGGAGTGTGGCA	0.552000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									34			17		0	0	1	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315572	73315572	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:73315572G>A	uc002siu.4	-	2	1415	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	RAB11FIP5_uc002sit.4_Missense_Mutation_p.R314C	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	392					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTGTTGCTACGACTGCCTCTG	0.637000														74			21		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371007	240371007	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240371007C>T	uc010pye.2	+	5	3132	c.2907C>T	c.(2905-2907)ccC>ccT	p.P969P	FMN2_uc010pyd.2_Silent_p.P965P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	965	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGGCATACCCCTTCCTCCCC	0.701000														80			26		0	0	1	0	0
PMEPA1	56937	broad.mit.edu	37	20	56234689	56234689	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:56234689G>A	uc002xyq.3	-	1	567	c.174C>T	c.(172-174)atC>atT	p.I58I	PMEPA1_uc002xyr.3_Silent_p.I8I|PMEPA1_uc002xys.3_Silent_p.I23I|PMEPA1_uc002xyt.3_Silent_p.I8I	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	58					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GCAGGCACGTGatcaccacca	0.577000														12			3		0	0	1	0	0
CD3E	916	broad.mit.edu	37	11	118183534	118183534	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118183534G>A	uc001psq.4	+	5	561	c.305G>A	c.(304-306)gGa>gAa	p.G102E	CD3E_uc010rya.2_Missense_Mutation_p.G102E	NM_000733	NP_000724	P07766	CD3E_HUMAN	Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	102	Ig-like.				G-protein coupled receptor protein signaling pathway|T cell costimulation|T cell receptor signaling pathway|signal complex assembly|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	SH3 domain binding|T cell receptor binding|protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	TACCCCAGAGGAAGCAAACCA	0.458000														109			14		0	0	1	0	0
NUMBL	9253	broad.mit.edu	37	19	41186939	41186939	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41186939G>A	uc002oon.3	-	5	591	c.423C>T	c.(421-423)atC>atT	p.I141I	NUMBL_uc010xvq.2_Silent_p.I100I|NUMBL_uc010xvr.2_Silent_p.I100I|NUMBL_uc002ooo.3_Silent_p.I141I	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	141	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			AGACCTTTTCGATGGTCTGGT	0.537000														121			60		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25675929	25675929	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:25675929C>T	uc003grr.3	+	10	1309	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	SLC34A2_uc003grs.3_Missense_Mutation_p.P409S|SLC34A2_uc010iev.3_Missense_Mutation_p.P409S	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	410					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTTCCCCTTTCCCTTTGCATG	0.597000			T	ROS1	NSCLC									34			18		0	0	1	0	0
SCP2	6342	broad.mit.edu	37	1	53413751	53413751	+	Splice_Site	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:53413751T>C	uc001cur.2	+	3	367	c.199_splice	c.e3+1	p.G67_splice	SCP2_uc010ono.2_Splice_Site|SCP2_uc010onp.2_Intron|SCP2_uc009vzi.2_Splice_Site_p.G67_splice|SCP2_uc001cus.2_Splice_Site|SCP2_uc001cuq.2_Splice_Site_p.G67_splice	NM_002979	NP_001180546	P22307	NLTP_HUMAN	Homo sapiens sterol carrier protein 2 (SCP2), transcript variant 1, mRNA.	67					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GCTATGTTTTTGGTATGTATT	0.353000														139			37		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163996	150163996	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150163996C>T	uc003whj.3	+	1	540	c.210C>T	c.(208-210)ttC>ttT	p.F70F		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	70						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.L69I(1)		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)		CTGACCTTTTCTCCTCAATAG	0.493000														137			69		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166229797	166229797	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166229797C>T	uc002udc.3	+	20	4202	c.3912C>T	c.(3910-3912)tcC>tcT	p.S1304S	SCN2A_uc002udd.3_Silent_p.S1304S|SCN2A_uc002ude.3_Silent_p.S1304S	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1304					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1304S(3)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCATCAAATCCCTCAGAACAC	0.408000														125			29		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35827133	35827133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35827133G>A	uc010edt.3	+	3	691	c.607G>A	c.(607-609)Gag>Aag	p.E203K	CD22_uc010edu.3_Missense_Mutation_p.E203K|CD22_uc010edv.3_Missense_Mutation_p.E203K|CD22_uc002nzb.4_Missense_Mutation_p.E203K|CD22_uc010xst.2_Missense_Mutation_p.E31K|CD22_uc010edx.3_5'Flank	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	203	Ig-like C2-type 1.		E -> K.		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)	CACCCGGAGCGAGCTCAAGTT	0.557000														64			30		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19725294	19725294	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:19725294C>T	uc002ykw.3	-	9	1128	c.1097G>A	c.(1096-1098)tGg>tAg	p.W366*		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	366	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AATCCTTTCCCATTCATTATC	0.348000														152			40		0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55370910	55370910	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55370910C>T	uc003xsb.4	+	0	416	c.212C>T	c.(211-213)cCg>cTg	p.P71L		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	71					Wnt receptor signaling pathway|angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.P71Q(2)		endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			ATCCGGCGGCCGATGAACGCT	0.677000														27			16		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142480013	142480013	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142480013G>A	uc011ksq.2	+	1	228	c.145G>A	c.(145-147)Ggt>Agt	p.G49S	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CCACTTCTGCGGTGGCTCCCT	0.562000														218			18		0	0	1	0	0
PLGLA	285189	broad.mit.edu	37	2	107002817	107002817	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:107002817G>A	uc002tdp.3	+	0		c.49G>A								Homo sapiens plasminogen-like A (PLGLA), non-coding RNA.																		CTGGGGGCAGGAAGCAGAGAA	0.483000														231			96		0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3006496	3006496	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3006496C>T	uc010dth.3	-	14	1688	c.1425G>A	c.(1423-1425)acG>acA	p.T475T	TLE2_uc010xhb.2_Silent_p.T141T|TLE2_uc002lww.3_Silent_p.T474T|TLE2_uc010xhc.2_Silent_p.T352T|TLE2_uc010dti.3_Silent_p.T488T|TLE2_uc010xhd.1_Silent_p.T382T	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	474					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity	p.G475G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		CCTTGCCGCCCGTGTACACAT	0.716000														17			5		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72176258	72176258	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:72176258G>A	uc001xms.3	+	14	4509	c.4148G>A	c.(4147-4149)gGc>gAc	p.G1383D	SIPA1L1_uc001xmt.3_Missense_Mutation_p.G1362D|SIPA1L1_uc001xmu.3_Missense_Mutation_p.G1362D|SIPA1L1_uc001xmv.3_Missense_Mutation_p.G1383D|SIPA1L1_uc010ttm.2_Missense_Mutation_p.G837D	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1383	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAGAGCCACGGCCTGGACCGG	0.562000														42			20		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450713	41450713	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41450713G>A	uc002yyq.1	-	25	5064	c.4612C>T	c.(4612-4614)Ctg>Ttg	p.L1538L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1538	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCTTCCTGCAGGTCATACAGG	0.577000														37			14		0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220099597	220099597	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220099597G>A	uc002vkg.3	+	9	1428	c.1254G>A	c.(1252-1254)gtG>gtA	p.V418V	ANKZF1_uc010zkv.1_3'UTR|ANKZF1_uc010zkw.1_3'UTR|ANKZF1_uc002vkh.3_Silent_p.V208V|ANKZF1_uc002vki.3_Silent_p.V418V|ANKZF1_uc002vkj.1_3'UTR	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA.	418						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGAGCTAGTGGAGTTGACTG	0.498000														64			17		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113163237	113163237	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113163237G>A	uc010mtz.3	-	39	10056	c.9719C>T	c.(9718-9720)tCt>tTt	p.S3240F	SVEP1_uc010mty.3_Missense_Mutation_p.S1166F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3240	Sushi 31.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTTCCCACAAGAAACTGGACT	0.388000														40			13		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20482391	20482391	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:20482391C>T	uc003gpr.1	+	5	724	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	SLIT2_uc003gps.1_Missense_Mutation_p.L174F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	174					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATTCAGGGCTCTCCGGGACCT	0.448000														111			27		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29997796	29997796	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:29997796C>T	uc010bzm.2	+	14	2259	c.2224C>T	c.(2224-2226)Cag>Tag	p.Q742*	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Nonsense_Mutation_p.Q735*|TAOK2_uc021tgf.1_Nonsense_Mutation_p.Q735*|TAOK2_uc002dva.2_Nonsense_Mutation_p.Q735*|TAOK2_uc002dvc.2_Nonsense_Mutation_p.Q735*|TAOK2_uc002dvd.2_Nonsense_Mutation_p.Q562*	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	735					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCATGCGGCCCAGGTTCGCCA	0.672000														127			39		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424057	56424057	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56424057C>T	uc010ygg.2	-	4	1151	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	376	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CATGGATTCACTAATGAGGCC	0.423000														94			45		0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159273855	159273855	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159273855G>A	uc001ftq.3	+	3	311	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	72	Ig-like 1.					integral to plasma membrane		p.E72Q(2)		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)	CAGCCTTTCAGAAGAGACAAA	0.363000														94			39		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19433006	19433006	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19433006G>A	uc010tcj.1	-	0		c.13104C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		CACAGTTCATGGAAAATGCTT	0.363000														68			20		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158389857	158389857	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158389857G>A	uc010pii.2	-	0	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CTGGCTTGAGGAGTAGTTGGA	0.398000														74			25		0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14889987	14889987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:14889987C>T	uc004fst.1	+	19	3619	c.2674C>T	c.(2674-2676)Cgg>Tgg	p.R892W	USP9Y_uc010nwu.1_Non-coding_Transcript	NM_004654	NP_004645	O00507	USP9Y_HUMAN	Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA.	892					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCTTATAGTTCGGTTTCCAAA	0.343000														18			15		0	0	1	0	0
LAPTM5	7805	broad.mit.edu	37	1	31206707	31206707	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:31206707C>T	uc001bsc.2	-	7	848	c.757G>A	c.(757-759)Ggc>Agc	p.G253S		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	Homo sapiens lysosomal protein transmembrane 5 (LAPTM5), mRNA.	253	Pro-rich.				transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGCTGGGCCCCCCTCTGGG	0.602000														29			10		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230365	7230365	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7230365A>C	uc003mxb.3	+	9	2525	c.2033A>C	c.(2032-2034)tAc>tCc	p.Y678S	RREB1_uc021yky.1_Missense_Mutation_p.Y678S|RREB1_uc003mxc.3_Missense_Mutation_p.Y678S|RREB1_uc010jnx.3_Missense_Mutation_p.Y678S|RREB1_uc021ykz.1_Missense_Mutation_p.Y678S|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	678					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.D677V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ATCTGCGACTACATCGCCGCC	0.622000														60			8		0	0	1	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159584018	159584018	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:159584018C>T	uc003fcq.2	+	5	1235	c.1054C>T	c.(1054-1056)Cca>Tca	p.P352S	IQCJ-SCHIP1_uc003fcr.2_Missense_Mutation_p.P325S|IQCJ-SCHIP1_uc003fcs.2_Missense_Mutation_p.P276S|IQCJ-SCHIP1_uc003fct.2_Missense_Mutation_p.P263S|IQCJ-SCHIP1_uc021xgm.1_Missense_Mutation_p.P44S|IQCJ-SCHIP1_uc010hvz.1_Missense_Mutation_p.P236S|IQCJ-SCHIP1_uc003fcu.2_Missense_Mutation_p.P33S	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	276						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						TGATGATGGCCCAGGAATTTA	0.398000														165			59		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71003055	71003055	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:71003055G>A	uc001swb.4	-	1	149	c.119C>T	c.(118-120)tCt>tTt	p.S40F	PTPRB_uc010sto.2_Missense_Mutation_p.S40F|PTPRB_uc010stp.2_Missense_Mutation_p.S40F|PTPRB_uc001swc.4_Missense_Mutation_p.S258F|PTPRB_uc001swa.4_Missense_Mutation_p.S258F|PTPRB_uc001swd.4_Missense_Mutation_p.S257F|PTPRB_uc009zrr.2_Missense_Mutation_p.S137F|PTPRB_uc001swe.3_Missense_Mutation_p.S258F	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	40	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GATAGACACAGAATGGCTGGA	0.527000														47			12		0	0	1	0	0
C6orf70	55780	broad.mit.edu	37	6	170154030	170154030	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:170154030T>A	uc003qxg.1	+	1	110	c.77T>A	c.(76-78)tTt>tAt	p.F26Y	TCTE3_uc003qxe.1_5'Flank|TCTE3_uc003qxf.3_5'Flank|C6orf70_uc011ehb.1_Intron|C6orf70_uc003qxh.1_Missense_Mutation_p.F26Y|C6orf70_uc010kky.1_5'UTR	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	26						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		AATCTTGGGTTTCAACTCAGA	0.353000														20			10		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848186	215848186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:215848186G>A	uc001hku.1	-	62	13454	c.13067C>T	c.(13066-13068)cCa>cTa	p.P4356L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4356	Fibronectin type-III 29.				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)		GACTTCTGATGGAGCAGCCTC	0.498000										HNSCC(13;0.011)				82			15		0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890592	229890592	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:229890592G>A	uc002vpr.4	-	2	547	c.509C>T	c.(508-510)aCc>aTc	p.T170I	PID1_uc002vps.4_Missense_Mutation_p.T168I|PID1_uc002vpt.4_Missense_Mutation_p.T137I|PID1_uc002vpu.4_Missense_Mutation_p.T88I	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	170	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GTGGTCGGCGGTGCAGTAGGC	0.587000														84			39		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79387439	79387439	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:79387439C>T	uc003hlb.2	+	49	7547	c.7107C>T	c.(7105-7107)ttC>ttT	p.F2369F		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2368					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGCAGCATTTCCACCTCACCT	0.557000														74			22		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15726098	15726098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15726098G>A	uc001ioc.1	-	3	473	c.473C>T	c.(472-474)aCt>aTt	p.T158I	ITGA8_uc010qcb.1_Missense_Mutation_p.T158I	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	158					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CGGTTTAAGAGTTCTCCAGTG	0.408000														69			5		0	0	1	0	0
CXCR7	57007	broad.mit.edu	37	2	237489685	237489685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:237489685G>A	uc021vys.1	+	0	577	c.577G>A	c.(577-579)Gag>Aag	p.E193K	CXCR7_uc010fyq.3_Missense_Mutation_p.E193K|CXCR7_uc002vwd.3_Missense_Mutation_p.E193K	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	193					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.E193K(1)		central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		GTCCAACAATGAGACCTACTG	0.592000														116			33		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577409	92577409	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92577409C>T	uc001pdj.4	+	17	10893	c.10876C>T	c.(10876-10878)Cgc>Tgc	p.R3626C	FAT3_uc001pdi.4_Missense_Mutation_p.R66C	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3626	Cadherin 33.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGTGATGGTCGCTTCCAGGT	0.502000										TCGA Ovarian(4;0.039)				155			81		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71209547	71209547	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71209547G>A	uc002ezr.3	-	4	630	c.479C>T	c.(478-480)tCc>tTc	p.S160F	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Missense_Mutation_p.S160F|HYDIN_uc010vmc.2_Missense_Mutation_p.S177F|HYDIN_uc010vmd.2_Missense_Mutation_p.S187F|HYDIN_uc002ezw.4_Missense_Mutation_p.S177F	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	160										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)				TCGGAATATGGAAGGCACTCC	0.433000														94			20		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62327271	62327271	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62327271G>A	uc001dab.3	+	18	2485	c.2371G>A	c.(2371-2373)Gaa>Aaa	p.E791K	INADL_uc009waf.1_Missense_Mutation_p.E791K|INADL_uc001daa.2_Missense_Mutation_p.E791K|INADL_uc001dad.3_Missense_Mutation_p.E488K|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	791					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAGCAGTAATGAAGACAAGAC	0.274000														133			57		0	0	1	0	0
SUCLG2	8801	broad.mit.edu	37	3	67570915	67570915	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:67570915G>A	uc021xae.1	-	4	589	c.561C>T	c.(559-561)ctC>ctT	p.L187L	SUCLG2_uc010hob.3_Silent_p.L68L|SUCLG2_uc003dna.4_Silent_p.L187L	NM_001177599	NP_001171070	Q96I99	SUCB2_HUMAN	Homo sapiens succinate-CoA ligase, GDP-forming, beta subunit (SUCLG2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	187	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CCTTAAAAATGAGCTCCGGGT	0.498000														94			44		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922226	37922226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:37922226C>T	uc002hsu.3	-	7	1409	c.1347G>A	c.(1345-1347)atG>atA	p.M449I	IKZF3_uc002htd.3_Missense_Mutation_p.M415I|IKZF3_uc010cwd.3_Missense_Mutation_p.M306I|IKZF3_uc002hsv.3_Missense_Mutation_p.M376I|IKZF3_uc010cwe.3_Missense_Mutation_p.M315I|IKZF3_uc010cwf.3_Missense_Mutation_p.M267I|IKZF3_uc010cwg.3_Missense_Mutation_p.M228I|IKZF3_uc002hsw.3_Missense_Mutation_p.M410I|IKZF3_uc002hsx.3_Missense_Mutation_p.M393I|IKZF3_uc002hsy.3_Missense_Mutation_p.M410I|IKZF3_uc002hsz.3_Missense_Mutation_p.M354I|IKZF3_uc002hta.3_Missense_Mutation_p.M371I|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.M362I|IKZF3_uc002htc.3_Missense_Mutation_p.M202I|IKZF3_uc010wel.2_Missense_Mutation_p.M202I	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	449					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GATACACATCCATCACCTCCC	0.557000														66			57		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7700763	7700763	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7700763C>T	uc002giu.1	+	50	8009	c.7995C>T	c.(7993-7995)ttC>ttT	p.F2665F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2665					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGAAGCCTTCATGGGCATCA	0.552000														77			69		0	0	1	0	0
CIDEA	1149	broad.mit.edu	37	18	12274239	12274239	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:12274239G>A	uc002kqt.4	+	3	543	c.478G>A	c.(478-480)Gac>Aac	p.D160N	CIDEA_uc002kqu.4_Missense_Mutation_p.D194N|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	160					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	p.D194N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						CGTGTCCTACGACATCCGGTG	0.587000														67			26		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21866051	21866051	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21866051C>G	uc001war.2	-	25	5047	c.4982G>C	c.(4981-4983)gGc>gCc	p.G1661A	CHD8_uc001was.2_Missense_Mutation_p.G1382A|SNORD8_uc001wau.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1661					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATCTGGTCGGCCAGCCTTTTC	0.393000														22			5		0	0	1	0	0
ZNF74	7625	broad.mit.edu	37	22	20760771	20760771	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:20760771C>T	uc010gsm.3	+	5	1660	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F	ZNF74_uc002zsg.3_Missense_Mutation_p.S412F|ZNF74_uc002zsh.3_Missense_Mutation_p.S483F|ZNF74_uc002zsi.3_Missense_Mutation_p.S412F|ZNF74_uc010gsn.3_Missense_Mutation_p.S412F	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.	483					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCTTCAGCTCCCACGCCTAC	0.637000														90			28		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3084090	3084090	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:3084090G>A	uc003bpc.3	+	20	2834	c.2495G>A	c.(2494-2496)cGa>cAa	p.R832Q	CNTN4_uc003bpb.1_Missense_Mutation_p.R503Q|CNTN4_uc021wsg.1_Missense_Mutation_p.R832Q|CNTN4_uc003bpe.3_Missense_Mutation_p.R504Q|CNTN4_uc003bpf.3_Missense_Mutation_p.R503Q|CNTN4_uc003bpg.3_Missense_Mutation_p.R88Q	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	832	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AATAGAGGACGAATACAAGGT	0.463000														36			19		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47607787	47607787	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47607787C>T	uc001cqv.1	+	3	441	c.390C>T	c.(388-390)ggC>ggT	p.G130G	CYP4A22_uc009vyo.3_Silent_p.G130G|CYP4A22_uc009vyp.3_Silent_p.G130G	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	130			G -> S (in allele CYP4A22*4, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs2056900).			endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	p.Y129*(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAGGGTACGGCTTGCTCCTGT	0.537000														40			30		0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66638892	66638892	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66638892G>A	uc001ojn.1	-	3	430	c.381C>T	c.(379-381)ttC>ttT	p.F127F	PC_uc001ojo.1_Silent_p.F127F|PC_uc001ojp.1_Silent_p.F127F	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	127	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	p.F127F(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGGCCTGGGCGAAGTCCGCTC	0.632000														192			23		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234458964	234458964	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:234458964G>A	uc001hvy.1	+	7	1593	c.1448G>A	c.(1447-1449)aGa>aAa	p.R483K	SLC35F3_uc001hwa.1_Missense_Mutation_p.R414K	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	414					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AAGAACAGAAGAGCCCGCCCT	0.577000											OREG0014330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		46			10		0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57670611	57670611	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57670611G>A	uc002qoa.1	-	2	261	c.216C>T	c.(214-216)ttC>ttT	p.F72F		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	72						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		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;0.0123)		GTCTTTTCTGGAATCCGTGCC	0.418000														95			29		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228559458	228559458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228559458C>T	uc009xez.1	+	93	21023	c.20979C>T	c.(20977-20979)gcC>gcT	p.A6993A	OBSCN_uc001hsr.1_Silent_p.A1622A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6993	Pro-rich.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCGGGGGGGCCCCTATCAGGG	0.692000														46			8		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958050	121958050	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:121958050C>T	uc003idq.1	-	3	1603	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	359										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AAACTTTGCTCCCTTCCTTTT	0.423000														99			43		0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65293661	65293661	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65293661T>C	uc001oea.1	+	3	519	c.442T>C	c.(442-444)Ttc>Ctc	p.F148L	SCYL1_uc009yqk.3_Missense_Mutation_p.F148L|SCYL1_uc001oeb.1_Missense_Mutation_p.F148L|SCYL1_uc001oec.1_Missense_Mutation_p.F148L	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	148	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GGCCGCCGTGTTCGTGGACCG	0.637000														43			19		0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63852307	63852307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:63852307C>T	uc001jlt.2	+	9	3541	c.3085C>T	c.(3085-3087)Cgg>Tgg	p.R1029W	ARID5B_uc001jlu.2_Missense_Mutation_p.R786W	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	1029					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	p.R1029W(2)		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)					GAAAAAGGCCCGGGCAGTGTC	0.597000														112			29		0	0	1	0	0
TEX10	54881	broad.mit.edu	37	9	103090189	103090189	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:103090189G>A	uc004bas.3	-	7	1896	c.1681C>T	c.(1681-1683)Cat>Tat	p.H561Y	TEX10_uc011lvf.2_Missense_Mutation_p.H400Y|TEX10_uc011lvg.2_Missense_Mutation_p.H564Y	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	561						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GAGCCAAGATGAGCAAGTTGC	0.403000														38			19		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952815	54952815	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:54952815G>A	uc003dhl.3	-	2	843	c.709C>T	c.(709-711)Cct>Tct	p.P237S	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	237						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ACTGGATCAGGAGCAGGAAGA	0.597000														21			11		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113520119	113520119	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:113520119G>A	uc010ljy.1	-	3	1059	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	343					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGGATCTGTTGAAAATGTATT	0.353000														142			50		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64748576	64748576	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:64748576G>A	uc003jtp.3	-	4	1615	c.801C>T	c.(799-801)ggC>ggT	p.G267G	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.	267	Peptidase M12B.				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)		TGTCTTTGCGGCCATGGTAGC	0.378000														111			39		0	0	1	0	0
C10orf96	374355	broad.mit.edu	37	10	118084563	118084563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:118084563G>A	uc001lck.3	+	1	291	c.40G>A	c.(40-42)Gag>Aag	p.E14K		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA.	14										kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)	18		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)		CATCTTCACCGAGCATCAGGC	0.522000														70			21		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72345521	72345521	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:72345521C>T	uc002llw.2	+	0	2599	c.2546C>T	c.(2545-2547)tCa>tTa	p.S849L	ZNF407_uc010xfc.2_Missense_Mutation_p.S849L|ZNF407_uc010dqu.2_Missense_Mutation_p.S849L|ZNF407_uc002llu.2_Missense_Mutation_p.S848L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	849					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGTAACATCTCACGGACGTGT	0.438000														74			18		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240493995	240493995	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240493995G>A	uc010pye.2	+	11	4767	c.4542G>A	c.(4540-4542)caG>caA	p.Q1514Q	FMN2_uc010pyd.2_Silent_p.Q1510Q|FMN2_uc010pyf.1_Silent_p.Q156Q|FMN2_uc010pyg.2_Silent_p.Q106Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1510	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCGAGGACAGGCAGATGGCT	0.423000														101			19		0	0	1	0	0
CDKL4	344387	broad.mit.edu	37	2	39406354	39406354	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:39406354C>T	uc010fal.2	-	7	901	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	CDKL4_uc002rrm.3_Missense_Mutation_p.E301K	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	Homo sapiens cyclin-dependent kinase-like 4 (CDKL4), mRNA.	301						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TTTCTTCCTTCATTACGTGCT	0.378000														141			36		0	0	1	0	0
FIZ1	84922	broad.mit.edu	37	19	56109072	56109072	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56109072G>A	uc002qli.4	-	1	250	c.160C>T	c.(160-162)Ccg>Tcg	p.P54S	FIZ1_uc002qlj.4_Missense_Mutation_p.P54S|ZNF524_uc002qlk.1_5'Flank	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	Homo sapiens FLT3-interacting zinc finger 1 (FIZ1), mRNA.	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCGCAGCGCGGACATGCGTGG	0.657000														99			12		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808219	8808219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8808219C>T	uc002mkl.2	-	0	954	c.833G>A	c.(832-834)cGg>cAg	p.R278Q		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	278						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						CTTCAGAGTCCGCTTGTACTC	0.627000														46			15		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38889214	38889214	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38889214C>T	uc021wvy.1	-	25	4546	c.4347G>A	c.(4345-4347)ttG>ttA	p.L1449L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1449					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCTGATTTTCCAAGGTAGAAA	0.502000														36			4		0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85424379	85424379	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:85424379G>A	uc001dkm.3	-	2	485	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	82						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		AAACCAAAACGAACAAGCTAA	0.333000														47			14		0	0	1	0	0
PDHA1	5160	broad.mit.edu	37	X	19377730	19377730	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:19377730C>T	uc004czg.4	+	10	1277	c.1132C>T	c.(1132-1134)Cgt>Tgt	p.R378C	PDHA1_uc004czh.4_Missense_Mutation_p.R416C|PDHA1_uc011mjc.2_Missense_Mutation_p.R385C|PDHA1_uc011mjd.2_Missense_Mutation_p.R347C|PDHA1_uc010nfl.3_Missense_Mutation_p.R169C	NM_000284	NP_000275	P08559	ODPA_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	378			R -> H (in X-LS; PDHE1 deficiency).		glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	p.R378C(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	TTTTGAAGTTCGTGGTGCCAA	0.527000														23			32		0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173915704	173915704	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:173915704G>A	uc010pmt.2	-	15	2958	c.2871C>T	c.(2869-2871)ccC>ccT	p.P957P	RC3H1_uc001gju.4_Silent_p.P957P|RC3H1_uc010pms.2_Silent_p.P957P|RC3H1_uc001gjv.3_Silent_p.P957P	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	957					cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CAGATGGAAGGGGTTTTCCAT	0.413000														94			20		0	0	1	0	0
PPP1CA	5499	broad.mit.edu	37	11	67166500	67166500	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67166500C>T	uc001okw.1	-	4	781	c.658G>A	c.(658-660)Gac>Aac	p.D220N	PPP1CA_uc001oku.1_Missense_Mutation_p.D231N|PPP1CA_uc001okv.1_Missense_Mutation_p.D176N|PPP1CA_uc001okx.1_Missense_Mutation_p.D308N	NM_002708	NP_002699	P62136	PP1A_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, alpha isozyme (PPP1CA), transcript variant 1, mRNA.	220					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|cytosol|nucleolus	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			ACGCCACGGTCGTTCTCGCCC	0.627000														86			23		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860848	16860848	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16860848C>T	uc002neu.4	+	5	1817	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	NWD1_uc002net.4_Silent_p.I330I|NWD1_uc002nev.4_Silent_p.I259I|NWD1_uc021uqg.1_Silent_p.I330I	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	465	NACHT.						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						TGCACCTCATCCTCTCAGCTT	0.642000														124			8		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23803443	23803443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:23803443C>T	uc003gqs.3	-	11	2323	c.2203G>A	c.(2203-2205)Gga>Aga	p.G735R	PPARGC1A_uc003gqt.3_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	735	RRM.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AAAGTGTATCCATTTTCAAGA	0.408000														49			4		0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40494791	40494791	+	Splice_Site	SNP	C	T	T	rs138332995		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40494791C>T	uc001zkx.4	+	14	1841	c.1629_splice	c.e14-1	p.S543_splice	BUB1B_uc010ucl.1_Splice_Site_p.S411_splice	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	543					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTTTTCCAGTCCTCCTGCAGA	0.378000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome					154			32		0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776168	38776168	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:38776168C>T	uc003gtj.3	-	3	1682	c.1044G>A	c.(1042-1044)acG>acA	p.T348T	TLR10_uc021xnk.1_Silent_p.T334T|TLR10_uc003gti.3_Silent_p.T348T|TLR10_uc021xnl.1_Silent_p.T348T|TLR10_uc003gtk.3_Silent_p.T348T|TLR10_uc021xnm.1_Silent_p.T348T	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	348					MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity	p.T348T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATTGGAATTTCGTAGGATAAT	0.328000														113			38		0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9512533	9512533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:9512533C>T	uc003brt.3	+	18	3550	c.3115C>T	c.(3115-3117)Cgt>Tgt	p.R1039C	SETD5_uc003bru.3_Missense_Mutation_p.R941C|SETD5_uc003brv.3_Missense_Mutation_p.R928C|SETD5_uc010hck.3_Missense_Mutation_p.R521C|SETD5_uc003brx.3_Missense_Mutation_p.R708C	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	1039										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGACCTCTCTCGTGGATCCTT	0.478000														11			8		0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134890719	134890719	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:134890719G>A	uc003vsp.2	-	4	748	c.686C>T	c.(685-687)cCt>cTt	p.P229L	WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_5'UTR	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	229										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GGAGACATAAGGAGGCAATTT	0.522000														161			55		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994216	140994216	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140994216G>A	uc004fbt.3	+	3	1350	c.1026G>A	c.(1024-1026)atG>atA	p.M342I	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.M1I	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	342				MT -> VS (in Ref. 2; AAC24227).			protein binding	p.P341S(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)					AGATTCCTATGACCTCCTCCT	0.463000										HNSCC(15;0.026)				94			115		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43243836	43243836	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:43243836C>T	uc002lbe.3	+	10	2254	c.1438C>T	c.(1438-1440)Cac>Tac	p.H480Y	SLC14A2_uc010dnj.3_Missense_Mutation_p.H480Y	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	480						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.H480H(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGTGTATTTCACATCGAGTG	0.582000														26			11		0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1734100	1734100	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:1734100C>T	uc004cqd.3	+	1	224	c.8C>T	c.(7-9)tCc>tTc	p.S3F	ASMT_uc010ncy.3_Missense_Mutation_p.S3F|ASMT_uc004cqe.3_Missense_Mutation_p.S3F	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	3					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAGATGGGATCCTCAGAGGAC	0.592000														10			5		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207669644	207669644	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207669644C>T	uc001hfy.3	+	0	172	c.32C>T	c.(31-33)cCt>cTt	p.P11L	CR1_uc009xcl.1_Missense_Mutation_p.P11L|CR1_uc001hfx.3_Missense_Mutation_p.P11L|CR1_uc021pij.1_Missense_Mutation_p.P11L|CR1_uc010psg.1_Missense_Mutation_p.P11L|CR1_uc009xcj.1_Missense_Mutation_p.P11L|CR1_uc009xck.1_Missense_Mutation_p.P11L	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	11					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGCCCGGAGCCTGTCGGGCCG	0.617000														53			13		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784638	82784638	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82784638G>A	uc003uhx.2	-	1	1608	c.1319C>T	c.(1318-1320)cCa>cTa	p.P440L	PCLO_uc003uhv.2_Missense_Mutation_p.P440L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	391	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				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						CTGCTGAACTGGAGTCTTTGT	0.577000														114			22		0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231775413	231775414	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:231775413_231775414GG>AA	uc021vxz.1	-	0	264_265	c.264_265CC>TT	c.(262-267)tccccc>tcTTcc	p.P89S	GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Missense_Mutation_p.P89S|GPR55_uc010fxs.1_Missense_Mutation_p.P89S	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA.	89					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GACGGGAAGGGGGACTGTACCT	0.554000														56			24		0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100454649	100454649	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100454649C>T	uc003uwp.3	+	4	750	c.608C>T	c.(607-609)tCc>tTc	p.S203F	SLC12A9_uc003uwo.1_Missense_Mutation_p.S114F|SLC12A9_uc003uwq.3_Missense_Mutation_p.S114F|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'UTR|SLC12A9_uc003uws.3_5'UTR|SLC12A9_uc003uwt.3_5'UTR|SLC12A9_uc003uwv.3_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	203						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTCTCTGGCTCCCTGGCCTCT	0.652000														97			37		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	122075601	122075601	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:122075601G>A	uc004bkc.2	-	1	489	c.33C>T	c.(31-33)ttC>ttT	p.F11F	DBC1_uc004bkd.2_Silent_p.F11F	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	11					cell cycle arrest|cell death	cytoplasm	protein binding			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						ATATAAACAGGAAGTAGAGGA	0.473000														54			15		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26089961	26089961	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:26089961G>A	uc002gzu.3	-	21	2927	c.2663C>T	c.(2662-2664)tCc>tTc	p.S888F		NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	888	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CACCCGCAGGGACGGGAACTC	0.572000														7			5		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62903542	62903542	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:62903542C>T	uc010ihh.3	+	20	3654	c.3481C>T	c.(3481-3483)Cga>Tga	p.R1161*	LPHN3_uc003hcq.4_Nonsense_Mutation_p.R1161*|LPHN3_uc003hct.3_Nonsense_Mutation_p.R545*	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	1139					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATCTGGTTCTCGAACTCCTGG	0.428000														72			30		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196682553	196682553	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196682553C>T	uc002utj.4	-	50	9393	c.9292_splice	c.e50-1	p.V3098_splice		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3098	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATAATGTTACCTATAAATGA	0.338000														22			4		0	0	1	0	0
HDX	139324	broad.mit.edu	37	X	83588782	83588782	+	Silent	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:83588782A>C	uc011mqv.2	-	8	2056	c.1809T>G	c.(1807-1809)tcT>tcG	p.S603S	HDX_uc004eel.2_Silent_p.S545S|HDX_uc004eek.2_Silent_p.S603S	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	603						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S603Y(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AATCCAAGAAAGAGTTTACTT	0.249000														8			5		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394039	154394039	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:154394039C>T	uc010jih.1	+	0	780	c.620C>T	c.(619-621)tCc>tTc	p.S207F		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	207	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTATGAACTCCCAGTCGTCC	0.468000														146			17		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60696259	60696259	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60696259C>T	uc001nqi.3	+	3	886	c.693C>T	c.(691-693)gcC>gcT	p.A231A	TMEM132A_uc001nqj.3_Silent_p.A231A|TMEM132A_uc001nqk.3_Silent_p.A244A|TMEM132A_uc001nql.1_Silent_p.A244A	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	231						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGGAGCAGGCCCTCCCAGTGG	0.701000														20			12		0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121189921	121189921	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:121189921C>T	uc001led.3	+	6	801	c.568C>T	c.(568-570)Cga>Tga	p.R190*	GRK5_uc009xzh.3_Nonsense_Mutation_p.R85*|GRK5_uc010qta.1_Nonsense_Mutation_p.R85*	NM_005308	NP_005299	P34947	GRK5_HUMAN	Homo sapiens G protein-coupled receptor kinase 5 (GRK5), mRNA.	190	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CAGGCAGTATCGAGTGCTAGG	0.458000														108			49		0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981484	70981484	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:70981484G>A	uc003xym.3	-	1	814	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CGTACAGAACGAAGTGCAGGT	0.602000														64			27		0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33894000	33894000	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:33894000C>T	uc003cfx.3	+	12	1817	c.1662C>T	c.(1660-1662)tcC>tcT	p.S554S	PDCD6IP_uc003cfy.3_Silent_p.S559S|PDCD6IP_uc011axw.2_Silent_p.S335S	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	Homo sapiens programmed cell death 6 interacting protein (PDCD6IP), transcript variant 1, mRNA.	554	Interaction with EIAV p9.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCTTAAAATCCTTATTGTCAA	0.303000														45			5		0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159484	39159484	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:39159484C>T	uc003oon.3	-	4	1046	c.682G>A	c.(682-684)Gag>Aag	p.E228K		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	228					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						ATCCAGAGCTCCACGAAGTAG	0.577000														57			98		0	0	1	0	0
CSF2	1437	broad.mit.edu	37	5	131411475	131411475	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:131411475G>A	uc003kwf.3	+	3	397	c.365G>A	c.(364-366)aGt>aAt	p.S122N		NM_000758	NP_000749	P04141	CSF2_HUMAN	Homo sapiens colony stimulating factor 2 (granulocyte-macrophage) (CSF2), mRNA.	122					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	ACCTTTGAAAGTTTCAAAGAG	0.483000														196			21		0	0	1	0	0
CLRN1	7401	broad.mit.edu	37	3	150659371	150659371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:150659371G>A	uc021xfs.1	-	1	722	c.431C>T	c.(430-432)tCa>tTa	p.S144L	CLRN1-AS1_uc011bny.1_Intron|CLRN1_uc021xfq.1_Non-coding_Transcript|CLRN1_uc021xfr.1_5'UTR|CLRN1_uc003eyj.3_Missense_Mutation_p.S68L|CLRN1_uc003eyk.1_Missense_Mutation_p.S144L|CLRN1_uc021xft.1_Non-coding_Transcript	NM_001195794	NP_001182723	P58418	CLRN1_HUMAN	Homo sapiens clarin 1 (CLRN1), transcript variant 5, mRNA.	144					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTACTTACCTGAAATGAAGCT	0.363000														57			16		0	0	1	0	0
VWA1	64856	broad.mit.edu	37	1	1374645	1374645	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1374645C>T	uc001afs.3	+	2	1042	c.816C>T	c.(814-816)ggC>ggT	p.G272G	VWA1_uc001afr.3_3'UTR	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	Homo sapiens von Willebrand factor A domain containing 1 (VWA1), transcript variant 1, mRNA.	272	Fibronectin type-III 1.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCTGGGCCGGCCTCGACCCGG	0.706000														18			5		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40980844	40980844	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:40980844C>T	uc002xkg.3	-	9	1826	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	PTPRT_uc010ggj.3_Missense_Mutation_p.E548K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	548	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGTGGGTTTCATTCCGGAGC	0.572000														104			10		0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10428436	10428436	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10428436G>A	uc002moa.3	-	11	2134	c.2054C>T	c.(2053-2055)tCc>tTc	p.S685F	FDX1L_uc002mnx.1_5'Flank|FDX1L_uc002mny.1_5'Flank|RAVER1_uc021uou.1_5'Flank|RAVER1_uc002mnz.3_Missense_Mutation_p.S53F	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	512						cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCCCAGCGGGGAAGAGCCGAT	0.697000														14			4		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864581	131864581	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:131864581C>T	uc003vra.4	-	19	3968	c.3739G>A	c.(3739-3741)Ggc>Agc	p.G1247S		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1247						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ATGAGGAGGCCGCCAGCCACT	0.617000														17			11		0	0	1	0	0
CTSC	1075	broad.mit.edu	37	11	88027354	88027354	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:88027354A>G	uc001pck.4	-	6	1313	c.1212T>C	c.(1210-1212)aaT>aaC	p.N404N	CTSC_uc001pcl.4_Silent_p.N256N	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	404					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAACAGCATGATTAGTCAGCT	0.488000														57			16		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012653	189012653	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:189012653G>A	uc011cle.1	-	7	1485	c.1263C>T	c.(1261-1263)tcC>tcT	p.S421S	TRIML2_uc003izj.1_Silent_p.S174S|TRIML2_uc003izk.1_Silent_p.S154S|TRIML2_uc003izl.2_Silent_p.S346S	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	346							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)		AGGCGCAATGGGAGAAATTGT	0.478000														105			51		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10243554	10243554	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10243554C>T	uc002gmk.1	-	18	2059	c.1969_splice	c.e18-1	p.E657_splice		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	657	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTAAATTTTCCTGGGACATA	0.433000														18			16		0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47703861	47703861	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:47703861G>A	uc003crq.2	-	19	2239	c.2121C>T	c.(2119-2121)gaC>gaT	p.D707D	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Silent_p.D598D	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	707					chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CCACGCGAGGGTCCACCACAG	0.478000														59			17		0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113783888	113783888	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:113783888G>A	uc001vsx.3	+	1	250	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Missense_Mutation_p.E65K	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	65	Gla.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCTCATACGAAGAGGCCCG	0.572000														91			31		0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141449223	141449223	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:141449223G>A	uc003yvh.2	-	2	967	c.952C>T	c.(952-954)Cag>Tag	p.Q318*	TRAPPC9_uc003yvj.2_Nonsense_Mutation_p.Q220*|TRAPPC9_uc003yvi.1_Nonsense_Mutation_p.Q220*	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	220					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGGGAGTCCTGCAGCATCCCT	0.512000														107			22		0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43006217	43006217	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:43006217G>A	uc010wji.2	-	11	1830	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	KIF18B_uc002iht.3_Missense_Mutation_p.P577S|KIF18B_uc010wjh.2_Missense_Mutation_p.P565S	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				TGAGCCAGAGGTGCCCCCCTG	0.582000														11			8		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149503946	149503946	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149503946C>T	uc010lpk.3	+	59	8761	c.8761C>T	c.(8761-8763)Ccc>Tcc	p.P2921S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2924					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTCTGCGCCCCCGGCTGCAC	0.662000														12			5		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38530995	38530995	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38530995C>T	uc003auy.1	-	6	1030	c.894_splice	c.e6+1	p.E298_splice	PLA2G6_uc003auz.1_Splice_Site_p.E298_splice|PLA2G6_uc003ava.1_Splice_Site_p.E298_splice|PLA2G6_uc003avb.2_Splice_Site_p.E298_splice|PLA2G6_uc010gxk.1_Splice_Site|PLA2G6_uc011ano.1_Splice_Site_p.E263_splice	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	298					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	ATCCACTCACCTCTGCGTTCT	0.662000														40			11		0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7845399	7845399	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7845399C>T	uc003mxu.4	+	1	869	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	231					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.R231H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GTTCTCCCCTCGTCAGCGACA	0.468000														105			33		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2411249	2411249	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:2411249C>T	uc001aji.1	+	2	622	c.348C>T	c.(346-348)ttC>ttT	p.F116F	PLCH2_uc010nyz.2_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	116	Necessary for plasma membrane localization (By similarity).|PH.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			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)		ACGGCAGCTTCGACCCCAACT	0.677000														11			5		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871891	51871891	+	Missense_Mutation	SNP	G	A	A	rs141129077		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:51871891G>A	uc002xwo.3	+	1	2781	c.1894G>A	c.(1894-1896)Gat>Aat	p.D632N	TSHZ2_uc021wex.1_Missense_Mutation_p.D629N	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	632					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAGTGAGGGCGATTCTTTCCG	0.512000														75			21		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143018840	143018840	+	Missense_Mutation	SNP	C	T	T	rs143506735		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143018840C>T	uc003wcr.1	+	4	682	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Missense_Mutation_p.R47C	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	199					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GACAATACTTCGTGGGGTTGT	0.507000														58			21		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407933	105407933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105407933C>T	uc010axc.1	-	6	13975	c.13855G>A	c.(13855-13857)Gag>Aag	p.E4619K	AHNAK2_uc021sen.1_Missense_Mutation_p.E16K|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.E4519K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4619						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTACATCCTCGTGGGCCAGG	0.547000														98			40		0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409824	56409824	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56409824C>T	uc001njb.1	-	0	92	c.92G>A	c.(91-93)gGa>gAa	p.G31E	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AAAGAGGACTCCTTGTAGATC	0.413000														95			9		0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73676009	73676009	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:73676009G>A	uc001ouo.3	+	3	1172	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	141					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CCCCCAAGTCGAACGGGATCT	0.527000											OREG0021218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			24		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47545985	47545985	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:47545985C>A	uc002zia.1	+	25	2338	c.2256C>A	c.(2254-2256)gtC>gtA	p.V752V	COL6A2_uc002zhz.1_Silent_p.V752V|COL6A2_uc002zhy.1_Silent_p.V752V|COL6A2_uc010gqe.2_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	752	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACCGCGACGTCACAGTGACGG	0.627000														153			57		9.59449e-18	9.64548e-18	1	1	0
HTR1A	3350	broad.mit.edu	37	5	63256493	63256494	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:63256493_63256494CC>TT	uc011cqt.2	-	0	1053_1054	c.1053_1054GG>AA	c.(1051-1056)atgggc>atAAgc	p.351_352MG>IS		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	351					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ATGAAGGTGCCCATGATGATGC	0.594000														156			21		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201485454	201485454	+	Missense_Mutation	SNP	G	A	A	rs148848561		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:201485454G>A	uc002uvx.3	+	16	1887	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	AOX1_uc010zhf.2_Missense_Mutation_p.E152K|AOX1_uc010fsu.3_Intron	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	596					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGCCACGGGGGAGGCCATCTA	0.458000														45			17		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7621800	7621800	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:7621800G>A	uc021pmv.1	-	8	1442	c.1336C>T	c.(1336-1338)Ctg>Ttg	p.L446L	ITIH5_uc021pmu.1_Silent_p.L232L|ITIH5_uc001ijr.2_Silent_p.L446L	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	446	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.L446L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTCTCCAGCAGCCTGAAGTCC	0.617000														58			21		0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698666	111698666	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:111698666C>T	uc022cct.1	+	0	710	c.710C>T	c.(709-711)tCc>tTc	p.S237F	ZCCHC16_uc004epo.1_Missense_Mutation_p.S237F	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	237							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTGTTGGCTTCCTTGATCCAA	0.532000														78			94		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94134256	94134256	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:94134256T>G	uc001pet.2	-	0	330	c.158A>C	c.(157-159)cAg>cCg	p.Q53P		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	53						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CACAAAGTTCTGCCAGTCGGA	0.612000														61			13		0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173942648	173942648	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:173942648G>A	uc003isv.3	+	11	2246	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	504	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.?(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TGGATGGAGAGAAGATATTCG	0.478000														121			27		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29104780	29104781	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29104780_29104781GG>AA	uc002kwu.4	+	7	1131_1132	c.943_944GG>AA	c.(943-945)gga>AAa	p.G315K		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	315	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATTTGCATCAGGAAATGAAGGA	0.371000														79			12		0	0	1	0	0
HBBP1	3044	broad.mit.edu	37	11	5264417	5264417	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5264417G>A	uc001mag.3	-	1	285	c.69C>T	c.(67-69)ctC>ctT	p.L23L						Homo sapiens hemoglobin, beta pseudogene 1 (HBBP1), non-coding RNA.																		GGTCATCCGTGAGCATAACAG	0.498000														27			7		0	0	1	0	0
BSPRY	54836	broad.mit.edu	37	9	116132056	116132056	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116132056C>T	uc004bhg.4	+	5	891	c.843C>T	c.(841-843)ttC>ttT	p.F281F	BSPRY_uc010muw.3_3'UTR	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.	281	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CCACCTCCTTCCAGAATGGGC	0.597000														45			22		0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148809282	148809282	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:148809282G>A	uc003wfj.3	-	2	384	c.251C>T	c.(250-252)cCt>cTt	p.P84L		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	84					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.P84H(2)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ATCAGTAGGAGGGCTAGTTGT	0.378000														201			16		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12979590	12979590	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12979590G>A	uc002mvm.3	+	20	2828	c.2700G>A	c.(2698-2700)aaG>aaA	p.K900K		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	900					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CAGTAGAGAAGAGGCCTTCTC	0.592000														147			9		0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53580495	53580495	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:53580495C>T	uc021onn.1	-	2	534	c.366G>A	c.(364-366)aaG>aaA	p.K122K	SLC1A7_uc021onm.1_Intron|SLC1A7_uc001cuy.3_Silent_p.K122K|SLC1A7_uc021ono.1_Non-coding_Transcript|SLC1A7_uc001cuz.4_Silent_p.K122K|AX748428_uc001cva.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	122						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CCGTGGTCTCCTTCTGGGCCG	0.612000														31			11		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75051124	75051124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:75051124C>T	uc009xrc.3	-	19	2430	c.2309G>A	c.(2308-2310)cGg>cAg	p.R770Q	TTC18_uc001jty.3_Missense_Mutation_p.R770Q|TTC18_uc001jtv.4_5'UTR|TTC18_uc001jtw.4_5'UTR|TTC18_uc001jtx.3_Missense_Mutation_p.R151Q	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	770							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTGAAGCATCCGTGCCTGAAG	0.423000														112			57		0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88695234	88695234	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:88695234C>T	uc010voz.2	+	16	2810	c.2610C>T	c.(2608-2610)gcC>gcT	p.A870A	ZC3H18_uc002fky.3_Silent_p.A846A|ZC3H18_uc010chw.3_Non-coding_Transcript|ZC3H18_uc002fkz.3_Silent_p.A116A	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	846						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CTCCTCCAGCCAAGCGGCCCA	0.642000														111			31		0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36370284	36370284	+	Missense_Mutation	SNP	G	A	A	rs147200750		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36370284G>A	uc002oce.3	+	16	2032	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	APLP1_uc010xsz.2_Missense_Mutation_p.E593K|APLP1_uc002ocf.3_Missense_Mutation_p.E633K|APLP1_uc002ocg.3_Missense_Mutation_p.E536K|APLP1_uc010xta.2_Missense_Mutation_p.E626K	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	632					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGCTCCGCGAACTGCAGCG	0.672000														96			30		0	0	1	0	0
NTF3	4908	broad.mit.edu	37	12	5603793	5603793	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:5603793G>A	uc001qnl.4	+	0	496	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	NTF3_uc001qnk.4_Missense_Mutation_p.R151Q	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	138					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.R138Q(2)|p.R138W(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CGGCGGAAACGGTACGCGGAG	0.602000														66			33		0	0	1	0	0
FAM163A	148753	broad.mit.edu	37	1	179782989	179782989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179782989C>T	uc009wxj.3	+	5	628	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	FAM163A_uc001gnj.3_Missense_Mutation_p.P57S|FAM163A_uc009wxk.3_Missense_Mutation_p.P57S	NM_173509	NP_775780	Q96GL9	F163A_HUMAN	Homo sapiens family with sequence similarity 163, member A (FAM163A), mRNA.	57						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						TCCCACGCATCCCAGAGGCCC	0.662000														60			23		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33411949	33411949	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:33411949G>A	uc021vft.1	+	5	1251	c.1228G>A	c.(1228-1230)Ggt>Agt	p.G410S	LTBP1_uc002rou.3_Missense_Mutation_p.G84S|LTBP1_uc002rov.3_Missense_Mutation_p.G84S|LTBP1_uc010ymz.2_Missense_Mutation_p.G84S|LTBP1_uc010yna.2_Missense_Mutation_p.G84S	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	410	EGF-like 2.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.G410C(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ATGTATGAATGGTGGCCAGTG	0.433000														45			20		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092833	30092833	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:30092833G>A	uc010dmc.3	+	0		c.1208G>A								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		GGAGGGACGGGAAGTAGAGGA	0.423000														84			14		0	0	1	0	0
PTENP1	11191	broad.mit.edu	37	9	33676025	33676025	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:33676025C>T	uc003zth.4	-	0	1394	c.523G>A	c.(523-525)Gga>Aga	p.G175R						Homo sapiens phosphatase and tensin homolog pseudogene 1 (PTENP1), non-coding RNA.																		TTGCAAGTTCCGCCACTGAAC	0.418000														118			38		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85711043	85711043	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:85711043C>T	uc003hpd.3	-	21	3913	c.3505G>A	c.(3505-3507)Gag>Aag	p.E1169K		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1169						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATGAGGACTCTTCACTAAAA	0.388000														53			18		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3777936	3777936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3777936G>A	uc002cvv.3	-	30	7316	c.7112C>T	c.(7111-7113)cCt>cTt	p.P2371L	CREBBP_uc002cvw.3_Missense_Mutation_p.P2333L	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	2371					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGTGGCGAAGGCTGGGGCTG	0.642000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							90			10		0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579437	35579437	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:35579437C>T	uc001bym.3	+	9	2152	c.2006C>T	c.(2005-2007)tCa>tTa	p.S669L	ZMYM1_uc001byn.3_Missense_Mutation_p.S669L|ZMYM1_uc010ohu.2_Missense_Mutation_p.S650L|ZMYM1_uc001byo.3_Missense_Mutation_p.S309L|ZMYM1_uc009vut.3_Missense_Mutation_p.S594L	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	669						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCACAAAAATCATCAAAGGCT	0.368000														51			21		0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44146425	44146425	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44146425C>T	uc003tkb.3	+	1	839	c.534C>T	c.(532-534)acC>acT	p.T178T		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	178	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCTCAGAAACCCTGGAGTGGC	0.667000														21			8		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925084	54925084	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54925084G>A	uc001sgc.4	+	22	2626	c.2547G>A	c.(2545-2547)atG>atA	p.M849I	NCKAP1L_uc010sox.2_Missense_Mutation_p.M391I|NCKAP1L_uc010soy.2_Missense_Mutation_p.M799I	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	849					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCTATGGCATGAAGTTCCTGA	0.507000														221			18		0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616431	248616431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248616431G>A	uc001iek.1	+	0	333	c.333G>A	c.(331-333)ggG>ggA	p.G111G		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G110E(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			TGATTGGAGGGGAATTCTTCC	0.542000														244			45		0	0	1	0	0
PHYHIP	9796	broad.mit.edu	37	8	22078966	22078966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:22078966G>A	uc003xbk.4	-	5	1587	c.893C>T	c.(892-894)aCc>aTc	p.T298I	PHYHIP_uc003xbj.4_Missense_Mutation_p.T298I	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.	298										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		CTCCCCCAGGGTGCCCAGGGA	0.627000														100			29		0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158747383	158747383	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:158747383C>T	uc003lxr.1	-	4	670	c.628G>A	c.(628-630)Gtc>Atc	p.V210I		NM_002187	NP_002178	P29460	IL12B_HUMAN	Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.	210					T-helper 1 type immune response|T-helper cell differentiation|cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCACCATGACCTCAATGGGC	0.502000														136			11		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688457	60688457	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:60688457C>T	uc002sae.1	-	3	1818	c.1590G>A	c.(1588-1590)cgG>cgA	p.R530R	BCL11A_uc002sab.3_Silent_p.R530R|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Silent_p.R199R|BCL11A_uc010ypj.2_Silent_p.R496R|BCL11A_uc002sad.1_Silent_p.R378R|BCL11A_uc002saf.1_Silent_p.R496R	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	530					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGACCGCGCCCCGCGAGCTGT	0.697000			T	IGH@	B-CLL									12			6		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634495	156634495	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:156634495G>A	uc003iov.3	+	7	1868	c.1332G>A	c.(1330-1332)gaG>gaA	p.E444E	GUCY1A3_uc010iqc.2_Silent_p.E444E|GUCY1A3_uc010iqd.3_Silent_p.E443E|GUCY1A3_uc003iow.3_Silent_p.E444E|GUCY1A3_uc003iox.3_Silent_p.E444E|GUCY1A3_uc010iqe.3_Silent_p.E209E|GUCY1A3_uc003ioy.3_Silent_p.E444E|GUCY1A3_uc003ioz.3_Silent_p.E209E|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Silent_p.E444E	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	444					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.L443R(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AAGCCCTGGAGGAGGAGAAGA	0.527000														75			26		0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84118695	84118695	+	Silent	SNP	G	A	A	rs141095084	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84118695G>A	uc002fhi.3	-	9	1681	c.1179C>T	c.(1177-1179)acC>acT	p.T393T		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	393	Serine protease.				cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAGCACCATAGGTGACAATGT	0.567000											OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			7		0	0	1	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984913	41984913	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:41984913C>T	uc003gwk.2	+	0	1201	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA.	368										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GCGTGGCCTTCGCTTCTCGGC	0.607000														50			33		0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89531723	89531723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:89531723C>T	uc001pdb.3	-	7	1263	c.934G>A	c.(934-936)Gga>Aga	p.G312R		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	312	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGGTCACATCCAATACACATG	0.373000														59			18		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96875242	96875242	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:96875242G>A	uc001yfn.2	+	3	506	c.462G>A	c.(460-462)acG>acA	p.T154T		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	154					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity	p.S153L(1)		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)		TACTGTCGACGGTGATGACTT	0.473000														69			17		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13870878	13870878	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13870878C>T	uc003jfd.2	-	23	3874	c.3832G>A	c.(3832-3834)Gag>Aag	p.E1278K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1278	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I1277T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAGTTACCTCAATAGGTCCT	0.373000									Kartagener syndrome					54			12		0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161519511	161519511	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161519511G>A	uc001gar.3	-	0	308	c.124C>T	c.(124-126)Ctc>Ttc	p.L42F	FCGR3A_uc001gas.3_Missense_Mutation_p.L42F|FCGR3A_uc001gat.4_Missense_Mutation_p.L6F|FCGR3A_uc009wuh.3_Missense_Mutation_p.L6F|FCGR3A_uc009wui.3_Missense_Mutation_p.L6F	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	6	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		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)	GCAGTTGGGAGGAGCAGCTGC	0.532000														49			17		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70946574	70946574	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70946574C>T	uc001swb.4	-	18	4746	c.4716G>A	c.(4714-4716)aaG>aaA	p.K1572K	PTPRB_uc010sto.2_Silent_p.K1482K|PTPRB_uc010stp.2_Silent_p.K1482K|PTPRB_uc001swc.4_Silent_p.K1790K|PTPRB_uc001swa.4_Silent_p.K1702K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1572					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAGTGTGTGGCTTCAGTGGTC	0.453000														47			13		0	0	1	0	0
GPR22	2845	broad.mit.edu	37	7	107115577	107115577	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107115577G>A	uc003vef.3	+	2	2418	c.1072G>A	c.(1072-1074)Gga>Aga	p.G358R	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron|GPR22_uc022ajv.1_Missense_Mutation_p.G358R	NM_005295	NP_005286	Q99680	GPR22_HUMAN	Homo sapiens G protein-coupled receptor 22 (GPR22), mRNA.	358						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						CATGGCTTATGGAACAACTAT	0.313000														92			40		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47560241	47560241	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47560241G>A	uc003gxk.1	+	11	2549	c.2385G>A	c.(2383-2385)acG>acA	p.T795T	ATP10D_uc003gxl.1_Silent_p.T43T	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	795					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGGTGTATACGAAAGGCGCTG	0.418000														107			41		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733510	152733510	+	Silent	SNP	G	A	A	rs138516775		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152733510G>A	uc001fal.1	+	1	1504	c.1446G>A	c.(1444-1446)ccG>ccA	p.P482P	KPRP_uc021ozf.1_Silent_p.P482P	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	482	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCCCTGCCGGCGCCCTGCC	0.657000														95			41		0	0	1	0	0
CIB3	117286	broad.mit.edu	37	19	16275561	16275561	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16275561C>T	uc002nds.3	-	4	510	c.510G>A	c.(508-510)caG>caA	p.Q170Q	CIB3_uc010eae.3_Silent_p.Q109Q|CIB3_uc010eaf.3_Non-coding_Transcript|CIB3_uc010eag.3_Silent_p.Q121Q	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	170	EF-hand 3.						calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						GGATCATGTTCTGGAAATCTT	0.587000														53			10		0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973592	29973592	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:29973592G>A	uc004dby.2	+	10	2254	c.1746G>A	c.(1744-1746)ggG>ggA	p.G582G		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	582	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGCCTTTTGGGGAGCTGCAGA	0.512000														13			12		0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151599232	151599232	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151599232C>T	uc003ezf.2	+	2	1006	c.901C>T	c.(901-903)Cac>Tac	p.H301Y		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	301						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TTTGGGAGATCACTTCAGGGA	0.433000														108			46		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569441	179569441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179569441C>T	uc021vsy.1	-	101	26251	c.26026G>A	c.(26026-26028)Gaa>Aaa	p.E8676K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5337K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9603	Ig-like 69.						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)			ATGTCAATTTCAAAGACAGCA	0.328000														15			10		0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782660	134782660	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:134782660C>T	uc003lav.3	-	0	379	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	47						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAAAGTTCTCTGGTGGAGCT	0.612000														19			4		0	0	1	0	0
SPINLW1-WFDC6	100526773	broad.mit.edu	37	20	44174367	44174367	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44174367C>T	uc010zxc.2	-	1	203	c.134G>A	c.(133-135)aGg>aAg	p.R45K	SPINLW1-WFDC6_uc002xou.3_Missense_Mutation_p.R45K|SPINLW1-WFDC6_uc002xov.2_Missense_Mutation_p.R45K	NM_001198986	NP_001185915	A6PVD6	A6PVD6_HUMAN	Homo sapiens SPINLW1-WFDC6 readthrough (SPINLW1-WFDC6), mRNA.	45						extracellular region	serine-type endopeptidase inhibitor activity										ACACACATCCCTTTCTTGGAA	0.433000														133			71		0	0	1	0	0
EDDM3A	10876	broad.mit.edu	37	14	21216087	21216087	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21216087G>A	uc021rom.1	+	0	348	c.348G>A	c.(346-348)gaG>gaA	p.E116E	EDDM3A_uc001vyc.3_Silent_p.E116E	NM_006683	NP_006674	Q14507	EP3A_HUMAN	Homo sapiens epididymal protein 3A (EDDM3A), mRNA.	116					sperm displacement	extracellular space		p.E116K(1)		breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GGTACACAGAGAGCAGAAGCT	0.443000														63			20		0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115394878	115394878	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:115394878G>A	uc003ebr.2	+	2	831	c.157G>A	c.(157-159)Gac>Aac	p.D53N	GAP43_uc003ebq.2_Missense_Mutation_p.D17N	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	17	IQ.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AAATGATGACGACCAAAAGAT	0.373000														68			37		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47031040	47031040	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:47031040C>T	uc003cqp.3	+	5	692	c.513C>T	c.(511-513)ttC>ttT	p.F171F	NBEAL2_uc003cqq.1_Silent_p.F164F	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	171							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AATACAAGTTCCCTCCTGCTG	0.622000														12			5		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176022630	176022630	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176022630G>A	uc021yie.1	+	31	4164	c.3890G>A	c.(3889-3891)gGg>gAg	p.G1297E	CDHR2_uc003mem.2_Missense_Mutation_p.G1297E|CDHR2_uc003men.1_Missense_Mutation_p.G1297E	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1297					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.G1297E(2)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CAGCTGGAGGGGCCATCCTAC	0.642000														104			45		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16975983	16975983	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16975983C>T	uc010och.2	+	10		c.2005C>T			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.																		GCTGTGTGGGCCCTCAGGCTC	0.602000														40			12		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769160	247769160	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247769160G>A	uc010pyz.2	+	0	273	c.273G>A	c.(271-273)acG>acA	p.T91T		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T91A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CAAAGAAGACGATCACTTACG	0.463000														359			36		0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69972933	69972933	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69972933G>A	uc003heg.4	+	3	1089	c.1043G>A	c.(1042-1044)gGt>gAt	p.G348D	UGT2B7_uc010ihq.3_Missense_Mutation_p.G348D	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	348					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATACCTTAGGTCTCAATACT	0.358000														117			30		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651583	84651583	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:84651583G>A	uc002bjz.4	+	20	3427	c.3203G>A	c.(3202-3204)gGa>gAa	p.G1068E	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G1068E	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1068						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.A1067A(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AATTCTGCAGGAAGCACCAAC	0.428000														101			27		0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225365136	225365136	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:225365136G>A	uc010fwy.1	-	10	1625	c.1572C>T	c.(1570-1572)gcC>gcT	p.A524A	CUL3_uc010zls.1_Silent_p.A452A|CUL3_uc002vny.2_Silent_p.A518A	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	518					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACTTTGGTGTGGCTGACTGAG	0.428000														121			52		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107674717	107674717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107674717C>T	uc010ljo.1	-	30	4838	c.4754G>A	c.(4753-4755)cGg>cAg	p.R1585Q	LAMB4_uc003vey.2_Missense_Mutation_p.R1585Q|LAMB4_uc010ljp.1_Missense_Mutation_p.R554Q	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1585	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGAGTTTGCCCGTCCTTGAGT	0.338000														132			55		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527500	23527500	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:23527500G>A	uc003jgo.3	+	10	2485	c.2303G>A	c.(2302-2304)aGg>aAg	p.R768K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	768					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						AGACACCAGAGGACACACACA	0.582000										HNSCC(3;0.000094)				197			26		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9117527	9117527	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:9117527G>A	uc001apo.3	-	2	565	c.273C>T	c.(271-273)ccC>ccT	p.P91P	SLC2A5_uc010nzz.2_Intron|SLC2A5_uc010oaa.2_Silent_p.P47P|SLC2A5_uc010oac.2_Silent_p.P91P|SLC2A5_uc001app.4_Silent_p.P91P|SLC2A5_uc021ofv.1_Non-coding_Transcript	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	91					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TATTCACCAAGGGGCCGACCA	0.473000														33			19		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398129	23398129	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:23398129G>A	uc004dal.4	+	1	781	c.773G>A	c.(772-774)aGg>aAg	p.R258K	PTCHD1_uc010nfu.2_Missense_Mutation_p.R258K	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	258					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TCCTCACTGAGGGAAGATTTC	0.517000														46			84		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133051060	133051061	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133051060_133051061TC>AT	uc003ytg.2	-	5	556_557	c.556_557GA>AT	c.(556-558)gac>ATc	p.D186I	OC90_uc011lix.1_Missense_Mutation_p.D202I	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	202	Phospholipase A2-like 1.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TGTTGTCAAGTCTTCCTTGATG	0.520000														21			8		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509611	71509611	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71509611G>A	uc011caw.1	+	8	2749	c.2468G>A	c.(2467-2469)tGg>tAg	p.W823*		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	823					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCCAATATGGCATGAAGGT	0.438000														64			20		0	0	1	0	0
VASH2	79805	broad.mit.edu	37	1	213147345	213147345	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:213147345G>A	uc001hjy.3	+	5	1132	c.928G>A	c.(928-930)Gga>Aga	p.G310R	VASH2_uc001hjv.2_Non-coding_Transcript|VASH2_uc001hjx.3_Missense_Mutation_p.G245R|VASH2_uc010ptn.2_Missense_Mutation_p.G206R|VASH2_uc001hjw.3_Missense_Mutation_p.G266R	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN	Homo sapiens vasohibin 2 (VASH2), transcript variant 3, mRNA.	310					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		GAGAAGCCGGGGAAAATCCCT	0.572000														60			13		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136584084	136584084	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:136584084C>T	uc004cep.4	-	6	1130	c.996G>A	c.(994-996)gaG>gaA	p.E332E	SARDH_uc004ceo.3_Silent_p.E332E|SARDH_uc011mdo.2_Silent_p.E164E|SARDH_uc011mdn.2_Silent_p.E332E	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	332					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGGGGTTGGCCTCATAGCCAC	0.572000														49			25		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62288674	62288674	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62288674G>A	uc001ntl.3	-	4	13515	c.13215C>T	c.(13213-13215)gtC>gtT	p.V4405V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4405					nervous system development	nucleus	protein binding	p.V4405V(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGCAGAGAGACATCCACAT	0.468000														225			95		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028546	37028546	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:37028546C>T	uc004ddl.2	+	0	2115	c.2063C>T	c.(2062-2064)tCt>tTt	p.S688F		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	688										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACTCGCGTATCTCATCTCCGC	0.657000														28			30		0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3638665	3638665	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3638665C>T	uc001akp.3	+	4	620	c.510C>T	c.(508-510)ccC>ccT	p.P170P	TP73_uc021ofb.1_Silent_p.P170P|TP73_uc021ofc.1_Silent_p.P170P|TP73_uc021ofd.1_Silent_p.P170P|TP73_uc021ofe.1_Silent_p.P170P|TP73_uc021off.1_Silent_p.P170P|TP73_uc010nzj.2_Silent_p.P121P|TP73_uc021ofg.1_Silent_p.P121P|TP73_uc021ofh.1_Silent_p.P121P|TP73_uc021ofi.1_Silent_p.P121P|TP73_uc001akr.3_Silent_p.P121P|TP73_uc009vlk.2_Silent_p.P121P|TP73_uc001aks.3_Silent_p.P121P|TP73_uc010nzk.2_Silent_p.P99P	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	170	DNA-binding (Potential).|Poly-Pro.				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|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CCCCGCCACCCCCAGGCACCG	0.617000														79			24		0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139983393	139983393	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139983393C>T	uc004cld.2	+	2	436	c.401C>T	c.(400-402)cCc>cTc	p.P134L	MAN1B1_uc004clc.2_Missense_Mutation_p.P35L|MAN1B1_uc011meo.1_Missense_Mutation_p.P35L|MAN1B1_uc011mep.2_Missense_Mutation_p.P134L|MAN1B1_uc010ncc.2_Non-coding_Transcript|LOC100289341_uc004clb.3_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA.	134					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GCAAATCCACCCGTCTTACCA	0.473000														101			35		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47680242	47680242	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:47680242G>A	uc003oyz.1	+	5	621	c.621G>A	c.(619-621)gtG>gtA	p.V207V	GPR115_uc003oza.1_Silent_p.V150V|GPR115_uc003ozb.1_Silent_p.V150V|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	150					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CTGACATGGTGAAATCATCAG	0.373000														106			35		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423262	107423262	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:107423262C>T	uc002tdq.3	-	5	1581	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	ST6GAL2_uc002tdr.3_Missense_Mutation_p.E488K	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	488					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AGGAGCTTCTCATAGAGTAGT	0.617000														65			24		0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154306661	154306661	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154306661C>T	uc001fex.3	+	9	767	c.767C>T	c.(766-768)cCt>cTt	p.P256L	ATP8B2_uc001few.3_Missense_Mutation_p.P223L|ATP8B2_uc001fey.1_Missense_Mutation_p.P242L	NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	242					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AATAAGTTCCCTCTGAGCAAC	0.517000														327			30		0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147062951	147062951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:147062951G>A	uc004fcm.3	+	0	103	c.29G>A	c.(28-30)gGg>gAg	p.G10E		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	10						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGCGAAGGGGAGGAATAGG	0.597000														37			17		0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206869967	206869967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:206869967G>A	uc002vaz.4	-	10	2614	c.2209C>T	c.(2209-2211)Cgt>Tgt	p.R737C		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	737					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GTAGCAGAACGGAGCAGGTTC	0.522000														48			15		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95480886	95480886	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:95480886C>T	uc010fhq.2	-	1	1494	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	ANKRD20A2_uc010fhp.3_Non-coding_Transcript	NM_001012421	NP_001012421	Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA.	788										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TGATCACATTCATTCATTAGC	0.323000														116			40		0	0	1	0	0
OGN	4969	broad.mit.edu	37	9	95148533	95148533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:95148533C>T	uc011ltx.2	-	5	830	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|OGN_uc004asa.3_Missense_Mutation_p.E226K|OGN_uc004asb.3_Missense_Mutation_p.E226K	NM_033014	NP_148935	P20774	MIME_HUMAN	Homo sapiens osteoglycin (OGN), transcript variant 1, mRNA.	226						extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						GGCACGGATTCCAGGGCATTA	0.378000														75			25		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38991718	38991718	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38991718C>T	uc021wvy.1	-	0	335	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	46					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGGGGTACTTCTCCTGTCTGG	0.527000														143			85		0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81251698	81251698	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:81251698G>A	uc001xux.2	-	13	1923	c.1752C>T	c.(1750-1752)tcC>tcT	p.S584S	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	584						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TGGTATCCAGGGAATTCTTAA	0.438000														106			34		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686297	100686297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100686297C>T	uc003uxp.1	+	2	11653	c.11600C>T	c.(11599-11601)tCa>tTa	p.S3867L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3867						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATACGTATTTCAATTACCAGT	0.478000														92			51		0	0	1	0	0
C18orf26	284254	broad.mit.edu	37	18	52262188	52262188	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:52262188G>A	uc002lfq.1	+	1	200	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	52						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		ACATCCAAATGACCAAGAGGC	0.433000														71			37		0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587388	36587388	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:36587388C>T	uc003aox.3	-	5	1013	c.788G>A	c.(787-789)tGg>tAg	p.W263*	APOL4_uc003aow.3_Nonsense_Mutation_p.W260*|APOL4_uc010gww.3_Nonsense_Mutation_p.W106*	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant b, mRNA.	264					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						TACATATCGCCAAGCAATCAA	0.478000														43			19		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101845424	101845424	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:101845424C>T	uc003uys.4	+	17	3007	c.2880C>T	c.(2878-2880)acC>acT	p.T960T	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.T949T	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	949					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCGAGCTCACCCGGCAGGTTA	0.597000														139			12		0	0	1	0	0
IL36G	56300	broad.mit.edu	37	2	113736882	113736882	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113736882G>A	uc002tio.1	+	2	209	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	IL36G_uc010fkr.1_Intron	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	Homo sapiens interleukin 36, gamma (IL36G), mRNA.	47					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GCAGTTCCACGAAGTGACAGT	0.493000														45			11		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765989	77765989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:77765989C>T	uc003yau.2	+	9	7219	c.6832C>T	c.(6832-6834)Cgt>Tgt	p.R2278C	ZFHX4_uc003yaw.1_Missense_Mutation_p.R2233C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2233						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D2277Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAGAATGCTCGTCAGAAAGC	0.388000										HNSCC(33;0.089)				27			7		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196659300	196659300	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:196659300C>T	uc001gtj.4	+	8	1507	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S	CFH_uc021pgt.1_5'UTR|CFH_uc001gti.4_Missense_Mutation_p.P423S|CFH_uc009wyw.3_Missense_Mutation_p.P398S|CFH_uc009wyx.3_Missense_Mutation_p.P359S	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	423	Sushi 7.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTACGCTCTTCCAAAAGCGCA	0.418000														44			26		0	0	1	0	0
SOX11	6664	broad.mit.edu	37	2	5832928	5832928	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:5832928A>G	uc002qyj.3	+	0	130	c.75A>G	c.(73-75)gaA>gaG	p.E25E		NM_003108	NP_003099	P35716	SOX11_HUMAN	Homo sapiens SRY (sex determining region Y)-box 11 (SOX11), mRNA.	25					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|enhancer sequence-specific DNA binding|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGGAGGGCGAATTCATGGCTT	0.657000														22			5		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140780114	140780114	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140780114C>T	uc011daw.2	+	0	2420	c.2420C>T	c.(2419-2421)tCt>tTt	p.S807F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_5'Flank|PCDHGC5_uc003lkh.2_5'Flank	NM_032099	NP_115270	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 2, mRNA.	171					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)			TATGTCTATTCTTTTTCATTA	0.398000														58			24		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039742	248039742	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248039742C>T	uc001ido.3	+	5	1460	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	471						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AATTGGGCATCCAGGGATCAT	0.463000														53			19		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38753835	38753835	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38753835G>A	uc003ciq.3	-	21	3906	c.3906C>T	c.(3904-3906)ctC>ctT	p.L1302L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1302					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCCCTGCGAAGAGGTTCACAC	0.493000														154			30		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182392093	182392093	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:182392093G>A	uc002unu.3	+	21	3172	c.2409G>A	c.(2407-2409)gaG>gaA	p.E803E	ITGA4_uc010frj.1_Silent_p.E285E|ITGA4_uc002unv.3_Silent_p.E48E	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	803					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GCATGGTGGAGAAAATGAACT	0.328000														62			23		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92543146	92543146	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92543146C>T	uc001pdj.4	+	11	9402	c.9385C>T	c.(9385-9387)Cct>Tct	p.P3129S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3129	Cadherin 28.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGATAACCCCCCTGTGTTTTC	0.542000										TCGA Ovarian(4;0.039)				57			24		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11204731	11204731	+	Missense_Mutation	SNP	G	A	A	rs17848545	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11204731G>A	uc001asd.3	-	33	4967	c.4846C>T	c.(4846-4848)Cgc>Tgc	p.R1616C		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1616	FAT.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.R1616H(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAGATCTGGCGGATGATCTCT	0.582000														52			20		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128957988	128957988	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:128957988G>A	uc003kvb.1	+	9	1699	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	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.	567	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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)		CACTGCTGATGAACAATGCCA	0.463000														60			20		0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80567198	80567198	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:80567198C>T	uc022awk.1	+	3	763	c.381C>T	c.(379-381)ttC>ttT	p.F127F	STMN2_uc003ybj.3_Silent_p.F127F|STMN2_uc010lzp.3_Non-coding_Transcript	NM_001199214	NP_001186143	Q93045	STMN2_HUMAN	Homo sapiens stathmin-like 2 (STMN2), transcript variant 1, mRNA.	127					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			ACAACAACTTCAGCAAGATGG	0.478000														43			20		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990425	47990425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:47990425C>T	uc002xur.1	-	1	1838	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	KCNB1_uc002xus.1_Missense_Mutation_p.E558K	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	558					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCAAGTTCTTCCTTTGGTTTG	0.493000														154			45		0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38353019	38353019	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:38353019C>T	uc001izi.1	+	5	569	c.391C>T	c.(391-393)Cct>Tct	p.P131S				Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 1, mRNA.	58						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CTCCCAGGCCCCTGAGATGCT	0.512000														95			44		0	0	1	0	0
ING4	51147	broad.mit.edu	37	12	6761495	6761495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6761495G>A	uc001qpw.4	-	5	631	c.590C>T	c.(589-591)aCc>aTc	p.T197I	ING4_uc001qpy.4_Missense_Mutation_p.T193I|ING4_uc001qpx.4_Missense_Mutation_p.T194I|ING4_uc009zes.3_Intron|ING4_uc009zet.3_Missense_Mutation_p.T173I|ING4_uc009zeu.3_Intron|ING4_uc009zev.3_Non-coding_Transcript|ING4_uc001qpv.4_Missense_Mutation_p.T196I	NM_001127582	NP_001121054	Q9UNL4	ING4_HUMAN	Homo sapiens inhibitor of growth family, member 4 (ING4), transcript variant 9, mRNA.	197					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|apoptosis|cell cycle arrest|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						AAGGCAATAGGTGGGTTCGTT	0.522000														99			35		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263334	39263334	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:39263334C>T	uc001uwv.3	+	0	2162	c.1853C>T	c.(1852-1854)cCc>cTc	p.P618L		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	618					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACTCACCCTCCCCATGAGAAG	0.522000														78			5		0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119256682	119256682	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:119256682C>T	uc003ica.2	-	2	813	c.766G>A	c.(766-768)Ggt>Agt	p.G256S		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	256	SRCR 1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CACACCCCACCCTGCCAGATG	0.423000														95			37		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617473	77617473	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:77617473G>A	uc003yau.2	+	1	1537	c.1150G>A	c.(1150-1152)Gga>Aga	p.G384R	ZFHX4_uc003yat.1_Missense_Mutation_p.G384R|ZFHX4_uc003yaw.1_Missense_Mutation_p.G384R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	384						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)			CTTCTTAAAAGGAAGCGCGAG	0.517000										HNSCC(33;0.089)				53			15		0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102737049	102737049	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102737049T>C	uc001phk.3	-	7	1136	c.1039A>G	c.(1039-1041)Aaa>Gaa	p.K347E		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	348	Hemopexin-like 2.				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GAATTACCTTTAAAAAGAAAA	0.318000														8			2		0	0	1	0	0
IGF1	3479	broad.mit.edu	37	12	102869433	102869434	+	Missense_Mutation	DNP	CC	TT	TT	rs147960415	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:102869433_102869434CC>TT	uc001tjp.4	-	1	426_427	c.207_208GG>AA	c.(205-210)aggggc>agAAgc	p.G70S	IGF1_uc001tjn.2_Missense_Mutation_p.G54S|IGF1_uc001tjm.2_Missense_Mutation_p.G70S|IGF1_uc001tjo.2_Missense_Mutation_p.G70S	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	70	B.				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						AAATAAAAGCCCCTGTCTCCAC	0.550000														61			15		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203676168	203676168	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203676168C>T	uc001gzw.3	+	8	2028	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	ATP2B4_uc001gzv.3_Silent_p.I377I|ATP2B4_uc009xaq.3_Silent_p.I377I	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	377					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CGGTTTTCATCCTGATTCTAT	0.468000														32			10		0	0	1	0	0
FAM3D	131177	broad.mit.edu	37	3	58639429	58639429	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58639429C>T	uc003dkq.3	-	2	390	c.93G>A	c.(91-93)atG>atA	p.M31I		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	Homo sapiens family with sequence similarity 3, member D (FAM3D), mRNA.	31					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		GGATGGTTTTCATGCTGAAGC	0.577000														146			59		0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74662525	74662525	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:74662525G>A	uc002fda.3	-	10	1892	c.1794C>T	c.(1792-1794)gcC>gcT	p.A598A	RFWD3_uc010vmx.2_Silent_p.A118A|RFWD3_uc010cgq.3_Silent_p.A598A	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	Homo sapiens ring finger and WD repeat domain 3 (RFWD3), mRNA.	598					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						ATGCAGCTGAGGCAGCTCTGG	0.517000														152			56		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31323334	31323334	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:31323334G>A	uc021sia.1	-	21	3344	c.3030C>T	c.(3028-3030)gtC>gtT	p.V1010V	TRPM1_uc010azy.3_Silent_p.V878V|TRPM1_uc001zfl.3_Intron|TRPM1_uc021shz.1_Silent_p.V993V|TRPM1_uc001zfm.3_Silent_p.V971V	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	971					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCAGCATGATGACCACAAAGT	0.493000														78			34		0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558247	159558247	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159558247G>A	uc001ftv.3	+	1	517	c.421G>A	c.(421-423)Ggt>Agt	p.G141S		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	141	Pentaxin.		G -> S (in a breast cancer sample; somatic mutation).		acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.G141S(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TCTGCGACAGGGTTACTTTGT	0.517000														50			10		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43038186	43038186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43038186G>A	uc001zqo.2	-	14	3981	c.3542C>T	c.(3541-3543)tCg>tTg	p.S1181L	TTBK2_uc010bcy.2_Missense_Mutation_p.S1112L|DQ586540_uc001zqn.2_5'Flank	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	1181	Ser-rich.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		ATGTGGGGACGAACTCCTCTG	0.592000														69			26		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3424212	3424212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:3424212C>T	uc003ggw.3	+	10	3852	c.2948C>T	c.(2947-2949)tCc>tTc	p.S983F	RGS12_uc003ggv.3_Missense_Mutation_p.S983F|RGS12_uc003ggy.1_Missense_Mutation_p.S381F|RGS12_uc003ggz.3_Missense_Mutation_p.S335F|RGS12_uc010icu.1_Missense_Mutation_p.S182F|RGS12_uc011bvs.2_Missense_Mutation_p.S325F|RGS12_uc003gha.3_Missense_Mutation_p.S325F|RGS12_uc010icv.3_Missense_Mutation_p.S182F|RGS12_uc003ghb.2_Missense_Mutation_p.S182F	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	983	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCGGGCTTCTCCATCAAAGAC	0.632000														41			14		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20801637	20801637	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:20801637G>A	uc001reh.2	+	12	2621	c.2581G>A	c.(2581-2583)Gat>Aat	p.D861N	PDE3A_uc021qwa.1_Missense_Mutation_p.D539N	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	861	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.N860N(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GCTATATAACGATCGTTCAGT	0.368000														107			39		0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121774680	121774681	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:121774680_121774681CC>TT	uc003idn.3	-	2	442_443	c.192_193GG>AA	c.(190-195)aaggga>aaAAga	p.G65R	PRDM5_uc003ido.3_Missense_Mutation_p.G65R|PRDM5_uc010ine.3_Missense_Mutation_p.G65R|PRDM5_uc010inf.3_Missense_Mutation_p.G65R|PRDM5_uc003idp.1_Missense_Mutation_p.G65R	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	65	SET.				histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.G65*(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AAAACTTCTCCCTTACTCCCAC	0.450000														337			28		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120802039	120802039	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:120802039G>A	uc001ldu.3	-	18	3139	c.2993C>T	c.(2992-2994)cCc>cTc	p.P998L	EIF3A_uc010qsu.2_Missense_Mutation_p.P964L|EIF3A_uc009xzg.1_Missense_Mutation_p.P37L	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	998	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AATTCGTCTGGGAGGCCTGTC	0.572000														208			19		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507303	74507303	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:74507303C>T	uc001dfy.4	-	6	1504	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	438								p.E438K(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTTACTTTTTCTTTATGGTAT	0.343000														107			47		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61564393	61564393	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	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														79			37		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144857686	144857686	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:144857686G>A	uc021ouh.1	-	38	6670	c.6368C>T	c.(6367-6369)tCc>tTc	p.S2123F	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_Missense_Mutation_p.S2123F|PDE4DIP_uc001elx.4_Missense_Mutation_p.S2017F|PDE4DIP_uc001elv.4_Missense_Mutation_p.S1130F	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2123					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)		CAGAGCTGGGGAATTCATACC	0.522000			T	PDGFRB	MPD									199			46		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915876	48915876	+	Missense_Mutation	SNP	C	T	T	rs121912529		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:48915876C>T	uc002rwu.4	-	10	1130	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	354			E -> K (in LHR; Leydig cell hypoplasia type 1).		male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ATAATATCTTCACAGGGATTA	0.443000														135			25		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154072474	154072474	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154072474C>T	uc001fdw.3	-	14	2037	c.1965_splice	c.e14+1	p.K655_splice	NUP210L_uc009woq.3_Splice_Site|NUP210L_uc010peh.2_Splice_Site_p.K655_splice	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	655						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AATATCTTACCTTTAGGGGTT	0.408000														188			78		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954982	70954982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:70954982G>A	uc002ezr.3	-	45	7445	c.7294C>T	c.(7294-7296)Cct>Tct	p.P2432S		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2433										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)				TGGACAAGAGGAAGCCCATGC	0.458000														126			31		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29998372	29998372	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:29998372C>T	uc010bzm.2	+	14	2835	c.2800C>T	c.(2800-2802)Cct>Tct	p.P934S	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.P814S|TAOK2_uc002dva.2_Missense_Mutation_p.P927S|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.P754S	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	927					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCCCGACATCCCTCCTGAACC	0.647000														218			51		0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71707097	71707098	+	Splice_Site	DNP	GG	AC	AC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:71707097_71707098GG>AC	uc001jql.3	+	37	2561	c.2025_splice	c.e37+1	p.R675_splice	COL13A1_uc021prz.1_Splice_Site_p.R626_splice|COL13A1_uc021psa.1_Splice_Site_p.R603_splice|COL13A1_uc021psb.1_Splice_Site_p.R597_splice|COL13A1_uc001jqk.2_Splice_Site_p.R653_splice|COL13A1_uc021psc.1_Splice_Site_p.R644_splice|COL13A1_uc021psd.1_Splice_Site_p.R626_splice|COL13A1_uc010qjf.2_Splice_Site_p.R603_splice|COL13A1_uc021pse.1_Splice_Site_p.R597_splice|COL13A1_uc021psf.1_Splice_Site_p.R675_splice|COL13A1_uc021psg.1_Splice_Site_p.R653_splice|COL13A1_uc021psh.1_Splice_Site_p.R644_splice	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	675	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AAGGGAAACCGGGTGAGTCTGA	0.510000														44			10		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2818707	2818707	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2818707C>T	uc022aqr.1	-	61	10048	c.9658G>A	c.(9658-9660)Ggt>Agt	p.G3220S	CSMD1_uc011kwj.2_Missense_Mutation_p.G2550S|CSMD1_uc010lrg.3_Missense_Mutation_p.G1112S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3221	Sushi 27.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTGGCGTACCAGGGTCTGGG	0.353000														28			8		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167051693	167051693	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:167051693C>T	uc011bpc.2	-	9	946	c.609G>A	c.(607-609)gaG>gaA	p.E203E	ZBBX_uc003feq.3_Silent_p.E174E|ZBBX_uc003fep.3_Silent_p.E203E	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	203						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATTATTCTCCTCTTTGGGTT	0.328000														57			19		0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157557700	157557700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157557700C>T	uc001fqw.3	-	3	653	c.517G>A	c.(517-519)Gag>Aag	p.E173K	FCRL4_uc010phy.2_Intron	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	173	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ACATCATTCTCGTCTCCATAT	0.318000														18			13		0	0	1	0	0
TESC	54997	broad.mit.edu	37	12	117479781	117479781	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117479781C>T	uc001twh.3	-	6	702	c.538G>A	c.(538-540)Gag>Aag	p.E180K	TESC_uc001twi.3_Non-coding_Transcript|TESC_uc021rem.1_Missense_Mutation_p.E153K	NM_017899	NP_060369	Q96BS2	TESC_HUMAN	Homo sapiens tescalcin (TESC), transcript variant 1, mRNA.	180					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		GTGATCCCCTCGTACACCTGA	0.667000														8			4		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23901876	23901876	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23901876G>A	uc001wjx.3	-	4	580	c.474C>T	c.(472-474)tcC>tcT	p.S158S		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	158	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGGCGTTGTCGGAGATGGAGA	0.607000														141			76		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123498383	123498383	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:123498383G>A	uc001uej.1	-	2	484	c.285C>T	c.(283-285)acC>acT	p.T95T	PITPNM2_uc001uek.1_Silent_p.T95T|PITPNM2_uc009zxu.1_Silent_p.T95T	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	95					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		ACCTGGTTCGGGTGTAGGGGT	0.602000														23			5		0	0	1	0	0
LIF	3976	broad.mit.edu	37	22	30639682	30639682	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:30639682C>T	uc003agz.2	-	2	679	c.567G>A	c.(565-567)ggG>ggA	p.G189G	LIF_uc011aks.1_3'UTR|MGC20647_uc003aha.3_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	Homo sapiens leukemia inhibitory factor (cholinergic differentiation factor) (LIF), mRNA.	189					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GCTTATACTTCCCCAGGAGTT	0.567000														105			47		0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6435711	6435711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6435711G>A	uc001qnr.3	+	13	1790	c.1642G>A	c.(1642-1644)Gag>Aag	p.E548K	PLEKHG6_uc010sew.2_Missense_Mutation_p.E548K|PLEKHG6_uc010sex.2_Missense_Mutation_p.E516K	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	548					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GCCTTCCCTGGAGGGCTCTCA	0.607000														30			8		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14809496	14809496	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:14809496C>T	uc001rcd.3	-	11	1557	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	474					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						AAGATATTTTCAGGAGGAATG	0.358000														107			34		0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17918740	17918740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17918740G>A	uc002nhl.1	+	1	271	c.124G>A	c.(124-126)Gcg>Acg	p.A42T	B3GNT3_uc010ebd.1_Missense_Mutation_p.A42T|B3GNT3_uc010ebe.1_Missense_Mutation_p.A42T	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	42					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCAGCCACCGGCGATCCCCGA	0.677000														51			4		0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139370186	139370186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139370186G>A	uc004chx.3	-	2	2191	c.1882C>T	c.(1882-1884)Cgc>Tgc	p.R628C	SEC16A_uc004chv.4_Missense_Mutation_p.R255C|SEC16A_uc004chw.3_Missense_Mutation_p.R628C|SEC16A_uc010nbn.3_Missense_Mutation_p.R628C|SEC16A_uc010nbo.1_Missense_Mutation_p.R628C	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	450					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)		ACGTTGGCGCGATCTGCCTCA	0.537000														9			3		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1902109	1902109	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1902109C>T	uc001aim.1	-	9	1191	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E	KIAA1751_uc009vkz.1_Silent_p.E345E	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	345										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TCTTCTGGGCCTCCAGCTCCT	0.667000														18			4		0	0	1	0	0
C9orf117	286207	broad.mit.edu	37	9	130473762	130473762	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130473762G>A	uc004brn.1	+	3	882	c.842G>A	c.(841-843)aGa>aAa	p.R281K	PTRH1_uc004brm.3_Intron|C9orf117_uc010mxl.1_Non-coding_Transcript	NM_001012502	NP_001012520	Q5JU67	CI117_HUMAN	Homo sapiens chromosome 9 open reading frame 117 (C9orf117), mRNA.	281										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGGCACAAAAGAGGCCACCAG	0.607000														62			13		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823648	38823648	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38823648C>T	uc003avs.1	-	1	587	c.490G>A	c.(490-492)Gac>Aac	p.D164N	KCNJ4_uc003avt.1_Missense_Mutation_p.D164N|KCNJ4_uc021wpp.1_Missense_Mutation_p.D164N	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	164		Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium (By similarity).			synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity	p.D164E(1)|p.I163I(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ATGAAGGAGTCGATGACGCAG	0.627000														75			6		0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52699043	52699043	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52699043C>T	uc010snq.2	+	5	888	c.755C>T	c.(754-756)tCc>tTc	p.S252F	KRT86_uc009zmg.3_Missense_Mutation_p.S252F|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.S252F	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	252	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GTTCTCCAGTCCCACATCTCA	0.552000														130			21		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176003124	176003124	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176003124G>A	uc021yie.1	+	11	1406	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	CDHR2_uc003mem.2_Missense_Mutation_p.E378K|CDHR2_uc003men.1_Missense_Mutation_p.E378K	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	378	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTACGTGGACGAGCATGCCTC	0.627000														66			18		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858068	9858068	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:9858068G>A	uc010uym.2	-	13	3643	c.3333C>T	c.(3331-3333)agC>agT	p.S1111S	GRIN2A_uc002czo.4_Silent_p.S1111S|GRIN2A_uc010uyn.2_Silent_p.S954S|GRIN2A_uc002czr.4_Silent_p.S1111S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1111					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1111R(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCTAGGGGAGCTTGATTTGG	0.483000														103			47		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77691833	77691833	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77691833G>A	uc011cbx.2	+	9	6357	c.5404G>A	c.(5404-5406)Ggg>Agg	p.G1802R	SHROOM3_uc003hkg.3_Missense_Mutation_p.G1580R	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1802	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGAGGCGAAGGGGAGCCTGCT	0.552000														82			26		0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242042065	242042065	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:242042065C>T	uc021plj.1	+	10	1843	c.1529C>T	c.(1528-1530)tCa>tTa	p.S510L	EXO1_uc001hzh.3_Missense_Mutation_p.S510L|EXO1_uc009xgq.3_Missense_Mutation_p.S509L|EXO1_uc021plk.1_Missense_Mutation_p.S510L	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	510					meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TTTTGCAGTTCAGATTCTACT	0.343000								Editing and processing nucleases						31			12		0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103249038	103249038	+	Silent	SNP	C	T	T	rs62508587		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:103249038C>T	uc001tjq.1	-	5	1055	c.582G>A	c.(580-582)ctG>ctA	p.L194L	PAH_uc010swc.1_Silent_p.L194L	NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	194			L -> P (in PKU).|Missing (in PKU).		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)	ACAAGGACTTCAGAGTCTTGA	0.438000														57			12		0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23927219	23927219	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:23927219G>A	uc002nrk.4	-	3	1275	c.1133C>T	c.(1132-1134)tCc>tTc	p.S378F	ZNF681_uc002nrl.4_Missense_Mutation_p.S309F|ZNF681_uc002nrj.4_Missense_Mutation_p.S309F	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGGTGTGAGGACTGCCTAAA	0.408000														92			35		0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17317979	17317979	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17317979C>T	uc010eak.3	+	34	5702	c.5550C>T	c.(5548-5550)ttC>ttT	p.F1850F	MYO9B_uc002nfi.3_Silent_p.F1850F|MYO9B_uc002nfj.1_Silent_p.F1850F|MYO9B_uc002nfm.1_Silent_p.F10F	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1850	Rho-GAP.|Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCATTATCTTCGCACCCTGCC	0.647000														4			5		0	0	1	0	0
FAH	2184	broad.mit.edu	37	15	80460615	80460615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:80460615C>T	uc002bfm.2	+	6	727	c.563C>T	c.(562-564)cCc>cTc	p.P188L	FAH_uc002bfn.2_Missense_Mutation_p.P118L	NM_000137	NP_000128	P16930	FAAA_HUMAN	Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA.	188					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	p.P188P(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTAAGCCTCCCGTATATGGT	0.493000									Tyrosinemia, type 1					142			18		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17104307	17104307	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17104307G>A	uc002nfb.3	-	11	1358	c.1326C>T	c.(1324-1326)acC>acT	p.T442T		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	395						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAACTTCACTGGTGTAGATGT	0.577000														46			12		0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945091	4945091	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4945091G>A	uc010qyr.2	-	0	479	c.479C>T	c.(478-480)cCc>cTc	p.P160L		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAATGGCAAGGGGAGGATGAG	0.542000														46			19		0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	123989367	123989367	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123989367C>T	uc001pzu.3	+	5	806	c.597C>T	c.(595-597)tgC>tgT	p.C199C	VWA5A_uc001pzr.3_Silent_p.C199C|VWA5A_uc001pzs.3_Silent_p.C199C|VWA5A_uc010sae.2_Silent_p.C215C|VWA5A_uc001pzt.3_Silent_p.C199C	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	199										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						AATCCAACTGCCCCTTGAGTC	0.498000														53			12		0	0	1	0	0
LMAN1	3998	broad.mit.edu	37	18	57013217	57013217	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:57013217G>A	uc002lhz.3	-	7	921	c.889C>T	c.(889-891)Caa>Taa	p.Q297*		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	297					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	AATTCTTGTTGAAAGTGCTCA	0.418000														131			18		0	0	1	0	0
PAOX	196743	broad.mit.edu	37	10	135197711	135197711	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:135197711C>T	uc001lmv.3	+	3	1196	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A	PAOX_uc001lmx.3_Silent_p.A372A|PAOX_uc001lmy.3_Intron|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Intron|PAOX_uc001lnc.3_Intron|PAOX_uc001lmw.3_Intron	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.	510					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TCCTGCCTGCCTTTGCGTACG	0.587000														95			39		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159548022	159548022	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:159548022C>T	uc003ipz.3	+	9	1069	c.806C>T	c.(805-807)tCc>tTc	p.S269F	RXFP1_uc010iqj.2_Missense_Mutation_p.S98F|RXFP1_uc010iqk.3_Missense_Mutation_p.S137F|RXFP1_uc011cja.2_Intron|RXFP1_uc010iqo.3_Missense_Mutation_p.S269F|RXFP1_uc011cjb.2_Missense_Mutation_p.S215F|RXFP1_uc011cjc.2_Missense_Mutation_p.S188F|RXFP1_uc011cjd.2_Missense_Mutation_p.S188F|RXFP1_uc010iql.3_Intron|RXFP1_uc011cje.2_Missense_Mutation_p.S296F|RXFP1_uc010iqm.3_Missense_Mutation_p.S236F|RXFP1_uc011cjf.2_Missense_Mutation_p.S139F|RXFP1_uc010iqn.3_Missense_Mutation_p.S215F	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	269						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.S269F(4)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ACTTTTATTTCCTGCAGTAAT	0.269000														38			10		0	0	1	0	0
MDH2	4191	broad.mit.edu	37	7	75689783	75689783	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:75689783C>T	uc003ueo.3	+	4	608	c.522C>T	c.(520-522)atC>atT	p.I174I	MDH2_uc011kgh.2_Intron|MDH2_uc003uep.3_Silent_p.I67I	NM_005918	NP_005909	P40926	MDHM_HUMAN	Homo sapiens malate dehydrogenase 2, NAD (mitochondrial) (MDH2), nuclear gene encoding mitochondrial protein, mRNA.	174					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	L-malate dehydrogenase activity|binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	CCCTGGACATCGTCAGAGCCA	0.522000														41			23		0	0	1	0	0
HTR3E	285242	broad.mit.edu	37	3	183822058	183822058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183822058C>T	uc010hxr.3	+	1	562	c.368C>T	c.(367-369)cCa>cTa	p.P123L	HTR3E_uc010hxq.3_Missense_Mutation_p.P123L|HTR3E_uc003fml.4_Missense_Mutation_p.P108L|HTR3E_uc003fmm.3_Missense_Mutation_p.P138L|HTR3E_uc003fmn.3_Missense_Mutation_p.P123L	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	123						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.E123D(1)|p.E123K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTGTGGCTCCCAGACATTTTC	0.517000														20			8		0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770152	112770152	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:112770152C>T	uc003kqm.2	-	0	577	c.385G>A	c.(385-387)Gac>Aac	p.D129N	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	129	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		ACGTCCAGGTCGTGGCAGTAC	0.562000														55			10		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490231	65490231	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65490231C>T	uc002aon.2	-	8	2574	c.2393G>A	c.(2392-2394)aGt>aAt	p.S798N		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	798					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGTGATGACACTGTCAAAGCG	0.587000														135			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179441363	179441363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179441363C>T	uc021vsy.1	-	273	62129	c.61904G>A	c.(61903-61905)gGa>gAa	p.G20635E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G14330E|TTN_uc021vta.1_Missense_Mutation_p.G14263E|TTN_uc021vtb.1_Missense_Mutation_p.G14138E|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21562							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E20635E(1)		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)			TTCTTGCAGTCCTGTTACTTT	0.443000														217			87		0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123200717	123200717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:123200717C>T	uc001ucy.4	-	0	723	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	HCAR1_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	190						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	AACATAGCTTCGTGCCACCGG	0.537000														74			22		0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605450	5605450	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:5605450C>T	uc004fqo.3	+	4	4224	c.3490C>T	c.(3490-3492)Cta>Tta	p.L1164L	PCDH11Y_uc022ciy.1_5'Flank	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1164					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGCCTCTGCTCTATGCCACAG	0.552000														19			37		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103067330	103067330	+	Silent	SNP	C	T	T	rs140183707	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103067330C>T	uc002tbx.3	+	10	1717	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	IL18RAP_uc010fiz.3_Silent_p.F269F	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	411	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.F411F(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTGATGCTTTCGTATCCTATG	0.343000														78			36		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111090596	111090596	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:111090596G>A	uc004epl.1	-	5	2365	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	TRPC5_uc004epm.1_Silent_p.F482F	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	482					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGATATTGCGAAGAGTGCTT	0.483000														24			18		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94718186	94718186	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94718186C>T	uc001ycs.1	+	15	1972	c.1818C>T	c.(1816-1818)ttC>ttT	p.F606F		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	606						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GTAAATATTTCTTTCTACCTG	0.289000														53			24		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108214637	108214637	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108214637G>A	uc003dxa.1	-	7	818	c.761C>T	c.(760-762)tCc>tTc	p.S254F		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	254	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						AAAACGAGAGGAGTTGTCATT	0.338000														26			7		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152496920	152496921	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152496920_152496921GG>AA	uc021vrb.1	-	58	8662_8663	c.8633_8634CC>TT	c.(8632-8634)ccc>cTT	p.P2878L	NEB_uc002txu.3_Missense_Mutation_p.P2878L|NEB_uc021vrc.1_Missense_Mutation_p.P2878L|NEB_uc010fnx.3_Missense_Mutation_p.P2878L|NEB_uc021vrd.1_Missense_Mutation_p.P2878L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2878					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGCTCTGGTCGGGCAGGCATGT	0.545000														220			70		0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85260961	85260961	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:85260961G>A	uc001szv.3	-	9	2000	c.1507C>T	c.(1507-1509)Ctt>Ttt	p.L503F	SLC6A15_uc010sul.2_Missense_Mutation_p.L396F|BC045559_uc001szx.3_5'Flank	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	503					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AATGCCAGAAGACAACAGATA	0.303000														63			25		0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16852153	16852153	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:16852153G>A	uc002gqs.1	-	2	357	c.344C>T	c.(343-345)cCa>cTa	p.P115L	TNFRSF13B_uc010vwt.1_Non-coding_Transcript|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.P69L	NM_012452	NP_036584	O14836	TR13B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA.	115					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						GAGCTCTGGTGGAAGGTTCAC	0.527000									IgA Deficiency, Selective					84			71		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34778553	34778553	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34778553C>T	uc002xfb.3	+	10	1305	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S	EPB41L1_uc002xeu.3_Silent_p.S316S|EPB41L1_uc010zvo.1_Silent_p.S378S|EPB41L1_uc002xev.3_Silent_p.S378S|EPB41L1_uc002xew.3_Silent_p.S281S|EPB41L1_uc002xex.3_Silent_p.S347S|EPB41L1_uc002xey.3_Silent_p.S305S|EPB41L1_uc002xez.3_Silent_p.S316S	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	378	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGCTGGTGTCCCCTGAGCCCC	0.632000														44			18		0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36714350	36714350	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:36714350G>A	uc003apg.3	-	10	1360	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	MYH9_uc003aph.1_Missense_Mutation_p.L241F	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	377	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ATACCCAAGAGATGGGACACC	0.473000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					228			100		0	0	1	0	0
JA660597	0	broad.mit.edu	37	16	33965525	33965525	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:33965525C>T	uc021thn.1	+	0		c.18C>T								Sequence 663 from Patent WO2010139812.																		ATCGACACTTCGAACGCAATT	0.572000														33			9		0	0	1	0	0
TM4SF20	79853	broad.mit.edu	37	2	228235632	228235632	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228235632C>T	uc002vpb.2	-	2	287	c.249_splice	c.e2+1	p.G83_splice		NM_024795	NP_079071	Q53R12	T4S20_HUMAN	Homo sapiens transmembrane 4 L six family member 20 (TM4SF20), mRNA.	83						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CATACTTACTCCAGTTCTGTT	0.448000														369			151		0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139858	178139858	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178139858G>A	uc003mjj.3	-	4	1219	c.1021C>T	c.(1021-1023)Ctt>Ttt	p.L341F		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	341					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CATCCAGAAAGGGATGTGCTG	0.403000														89			47		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36166615	36166615	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:36166615C>T	uc003gsq.2	-	10	2432	c.2094G>A	c.(2092-2094)agG>agA	p.R698R	ARAP2_uc003gsr.1_Silent_p.R698R	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	698	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						CTGCACAGCTCCTGTTGGATT	0.428000														73			17		0	0	1	0	0
SHISA3	152573	broad.mit.edu	37	4	42403225	42403225	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:42403225C>T	uc003gwp.3	+	1	692	c.474C>T	c.(472-474)ccC>ccT	p.P158P		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	Homo sapiens shisa homolog 3 (Xenopus laevis) (SHISA3), mRNA.	158					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CCAGGGCACCCTCCCGGCAGT	0.667000														162			64		0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30526555	30526555	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:30526555C>T	uc002hgw.3	+	12	1325	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	RHOT1_uc002hgy.3_Silent_p.F362F|RHOT1_uc002hgz.3_Silent_p.F362F|RHOT1_uc002hha.3_Silent_p.F235F|RHOT1_uc010csv.3_Non-coding_Transcript|RHOT1_uc002hgx.3_Silent_p.F235F|RHOT1_uc010wby.2_Silent_p.F362F|RHOT1_uc002hhb.3_Silent_p.F341F|RHOT1_uc002hgv.3_Silent_p.F362F	NM_001033568	NP_001028740	Q8IXI2	MIRO1_HUMAN	Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA.	362					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				ACCAGGGATTCCTTTCCCAGT	0.378000														42			29		0	0	1	0	0
SLC25A15	10166	broad.mit.edu	37	13	41379284	41379284	+	Silent	SNP	C	T	T	rs35434090	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:41379284C>T	uc001uxn.3	+	3	667	c.345C>T	c.(343-345)ttC>ttT	p.F115F	LOC100616668_uc021riq.1_Intron|LOC100616668_uc001uxp.2_Intron|SLC25A15_uc010tfb.2_Silent_p.F21F|LOC100616668_uc001uxo.2_Non-coding_Transcript	NM_014252	NP_055067	Q9Y619	ORNT1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 (SLC25A15), nuclear gene encoding mitochondrial protein, mRNA.	115					cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	CCGGTTCCTTCGCCTCTGCCT	0.547000														103			10		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167170	140167170	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140167170C>T	uc003lhb.2	+	0	1295	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	PCDHAC2_uc003lha.2_Missense_Mutation_p.S432L|PCDHAC2_uc003lgz.3_Missense_Mutation_p.S432L	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	446	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)			GACGGGGGCTCGCCTTCGCTG	0.632000														151			55		0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126051160	126051160	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:126051160G>A	uc003yrt.3	-	24	3325	c.2996C>T	c.(2995-2997)tCa>tTa	p.S999L	KIAA0196_uc011lir.2_Missense_Mutation_p.S851L	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	999					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GTAAGGAAGTGAAGGGTCCTG	0.403000														133			24		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61602272	61602272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61602272C>T	uc010xev.2	+	7	1080	c.990C>T	c.(988-990)aaC>aaT	p.N330N	SERPINB2_uc010xew.2_Silent_p.N330N	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	348					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)	CAGCAAGAAACCTATTTTTGT	0.413000														55			30		0	0	1	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332737	71332737	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:71332737G>A	uc001jpp.3	-	1	309	c.63C>T	c.(61-63)ttC>ttT	p.F21F	NEUROG3_uc021pry.1_Silent_p.F21F	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN	Homo sapiens neurogenin 3 (NEUROG3), mRNA.	21					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						AGGCTCTGGGGAAGGACCGCT	0.677000														62			22		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565276	58565276	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58565276C>T	uc002qrc.1	+	5	1331	c.1084C>T	c.(1084-1086)Cca>Tca	p.P362S		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	362					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V361I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGAGTCCGTCCCACCCAGGGA	0.662000														29			16		0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149356757	149356757	+	Missense_Mutation	SNP	G	A	A	rs72645628	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:149356757G>A	uc003ilj.4	-	1	1619	c.1256C>T	c.(1255-1257)tCg>tTg	p.S419L	NR3C2_uc003ilk.4_Missense_Mutation_p.S419L|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	419	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TGAAGAATCCGAATTTATTTT	0.393000														107			24		0	0	1	0	0
HOMEZ	57594	broad.mit.edu	37	14	23746205	23746205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23746205G>A	uc001wja.2	-	1	380	c.232C>T	c.(232-234)Ccc>Tcc	p.P78S	HOMEZ_uc001wjb.2_Missense_Mutation_p.P80S	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	Homo sapiens homeobox and leucine zipper encoding (HOMEZ), mRNA.	78						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CTGGGATAGGGAAAGTAGCTG	0.537000														126			9		0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122958467	122958467	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:122958467G>A	uc001ucn.3	-	13	1857	c.1701C>T	c.(1699-1701)gtC>gtT	p.V567V	ZCCHC8_uc001ucl.3_Silent_p.V178V|ZCCHC8_uc001ucm.3_Silent_p.V329V|ZCCHC8_uc009zxp.3_Silent_p.V329V|ZCCHC8_uc009zxq.3_Silent_p.V329V	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	Homo sapiens zinc finger, CCHC domain containing 8 (ZCCHC8), mRNA.	567						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTCCCTCCGGGACAGGGAGGT	0.507000														265			97		0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23542422	23542422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:23542422G>A	uc002nre.3	-	3	3472	c.3359C>T	c.(3358-3360)gCt>gTt	p.A1120V	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.A1088V	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	1120						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTTAGTAAGAGCTGAGGACTC	0.398000														93			15		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	50816186	50816186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:50816186G>A	uc011bds.2	+	1	141	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	40	SH3.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGAAAAATGTGAAGGTGAGTA	0.348000														6			3		0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6291949	6291949	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6291949C>T	uc001mcp.3	+	3	982	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	CCKBR_uc001mcq.3_Missense_Mutation_p.R171C|CCKBR_uc001mcr.3_Missense_Mutation_p.R243C|CCKBR_uc001mcs.3_Missense_Mutation_p.R243C|CCKBR_uc001mct.1_5'Flank	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	243					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTTATCTCTCGCGAGCTCTA	0.597000														67			38		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86790910	86790910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:86790910G>A	uc002blz.1	+	5	477	c.397G>A	c.(397-399)Ggc>Agc	p.G133S		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	133					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						AGAGTCGAACGGCCGCAGAGC	0.562000														16			3		0	0	1	0	0
LOC286238	286238	broad.mit.edu	37	9	91262450	91262450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:91262450G>A	uc010mql.1	-	1	326	c.193C>T	c.(193-195)Cat>Tat	p.H65Y		NM_001100111	NP_001093581			Homo sapiens uncharacterized LOC286238 (LOC286238), mRNA.																		TATACATAATGAGTTATCATC	0.433000														101			34		0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113803741	113803741	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113803741G>A	uc001pok.3	+	5	760	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	HTR3B_uc001pol.3_Missense_Mutation_p.E197K	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	208					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CAGTGAGTGGGAACTTCTATC	0.473000														57			7		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108872050	108872051	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:108872050_108872051CC>TT	uc010ywo.2	+	3	422_423	c.422_423CC>TT	c.(421-423)ccc>cTT	p.P141L		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	141						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GCCAGAAATCCCAAGGATTGCC	0.421000														114			50		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66436970	66436970	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:66436970C>T	uc002eom.4	+	11	2409	c.2253C>T	c.(2251-2253)tcC>tcT	p.S751S		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	751	Ser-rich.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCGACTCATCCGACTCTGACG	0.622000														26			9		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70541868	70541868	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:70541868C>T	uc001dep.3	+	21	4255	c.4225C>T	c.(4225-4227)Cag>Tag	p.Q1409*	LRRC7_uc009wbg.3_Nonsense_Mutation_p.Q693*|LRRC7_uc001deq.3_Nonsense_Mutation_p.Q603*	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1409						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						CCAGCAATTTCAGTCACCATT	0.522000														60			30		0	0	1	0	0
C11orf35	256329	broad.mit.edu	37	11	556039	556039	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:556039G>A	uc001lpx.3	-	10	1397	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	AX748330_uc001lpy.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	445										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCGCGGATGGAGAGGAGGGG	0.776000														17			8		0	0	1	0	0
C1orf201	90529	broad.mit.edu	37	1	24706163	24706163	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24706163G>A	uc001bjc.3	-	4	609	c.442C>T	c.(442-444)Cct>Tct	p.P148S	C1orf201_uc001bjb.3_Missense_Mutation_p.P56S|C1orf201_uc001bja.3_Missense_Mutation_p.P101S|C1orf201_uc001bjd.3_Missense_Mutation_p.P148S|C1orf201_uc001bjf.3_Missense_Mutation_p.P16S	NM_001199013	NP_001185942	Q5TH74	CA201_HUMAN	Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA.	148										breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	15		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)		TTTGGTGCAGGAGTTTCAAAC	0.383000														172			29		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53012211	53012211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53012211C>T	uc001sas.3	-	0	133	c.98G>A	c.(97-99)cGa>cAa	p.R33Q		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	33	Gly-rich.|Head.					keratin filament	structural molecule activity	p.R33*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCCCCTGCTCGGTAGGAGGA	0.637000														111			39		0	0	1	0	0
TCP10	6953	broad.mit.edu	37	6	167796357	167796357	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:167796357T>A	uc003qvv.1	-	1	217	c.5A>T	c.(4-6)gAg>gTg	p.E2V	TCP10_uc003qvu.3_Missense_Mutation_p.E2V|TCP10_uc003qvw.3_Intron	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	29						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		AGGTGTCTTCTCCATGGCAGC	0.667000														10			5		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431664	140431664	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140431664G>A	uc003lik.1	+	0	686	c.609G>A	c.(607-609)gaG>gaA	p.E203E		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	203	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACCGAGAGGAGCAGCCTG	0.582000														32			5		0	0	1	0	0
GET4	51608	broad.mit.edu	37	7	927046	927046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:927046C>T	uc003sjl.1	+	3	448	c.356C>T	c.(355-357)tCt>tTt	p.S119F	GET4_uc003sjj.1_Non-coding_Transcript	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN	Homo sapiens golgi to ER traffic protein 4 homolog (S. cerevisiae) (GET4), mRNA.	119					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding			breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GACCCCAACTCTCCTGAGCGC	0.622000														95			37		0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205589256	205589256	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205589256G>A	uc001hcy.2	-	2	2168	c.918C>T	c.(916-918)gtC>gtT	p.V306V	SLC45A3_uc021pid.1_Non-coding_Transcript|SLC45A3_uc001hcz.3_Silent_p.V306V	NM_001973	NP_001964	Q96JT2	S45A3_HUMAN	Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA.	0					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TTTCTAGCAAGACTGAATCCT	0.458000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									123			48		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59166625	59166625	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:59166625C>T	uc010dps.1	+	1	605	c.453C>T	c.(451-453)ttC>ttT	p.F151F	CDH20_uc002lif.2_Silent_p.F145F	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	151	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E150Q(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AGTCAGAGTTCATCATCAAAA	0.537000														33			9		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34052145	34052145	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34052145C>T	uc001bxm.1	-	45	7187	c.7010G>A	c.(7009-7011)gGa>gAa	p.G2337E	CSMD2_uc001bxn.1_Missense_Mutation_p.G2339E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2339	Sushi 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGGTAGGTTCCAAGTTTGCA	0.488000														67			17		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90249396	90249396	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:90249396C>T	uc010yts.2	+	40		c.5231_splice	c.e40+1							Parts of antibodies, mostly variable regions.																		TAGTACCCCTCCCACAGTGTT	0.522000														166			58		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43321774	43321774	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43321774G>A	uc002yzw.3	-	11	1759	c.1517C>T	c.(1516-1518)tCg>tTg	p.S506L	C2CD2_uc002yzs.3_5'UTR|C2CD2_uc002yzt.3_Missense_Mutation_p.S122L|C2CD2_uc002yzu.3_Missense_Mutation_p.S338L|C2CD2_uc002yzv.3_Missense_Mutation_p.S351L|C2CD2_uc002yzx.1_Missense_Mutation_p.S351L	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	506						cytosol|extracellular region|nucleus		p.S506L(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CTTCCGTGGCGACTTGAGTTT	0.498000														75			21		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414032	22414032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22414032G>A	uc001yuf.3	+	0	571	c.331G>A	c.(331-333)Gac>Aac	p.D111N	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		GGCTTGCACCGACATGTTTGT	0.507000														92			33		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167279836	167279836	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:167279836C>T	uc002udu.2	-	17	3090	c.2960G>A	c.(2959-2961)tGg>tAg	p.W987*	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	987					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATATGCCATCCATTTTAGAAG	0.318000														51			23		0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76368516	76368516	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:76368516C>T	uc001xrx.3	+	30	4047	c.3772C>T	c.(3772-3774)Ctc>Ttc	p.L1258F	TTLL5_uc001xsa.3_Missense_Mutation_p.L332F	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	1258					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GCTGAATGGACTCCAGAGCAG	0.572000														88			19		0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14577226	14577226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:14577226C>T	uc001rbw.3	+	1	535	c.377C>T	c.(376-378)cCt>cTt	p.P126L	ATF7IP_uc010shs.1_Missense_Mutation_p.P126L|ATF7IP_uc001rbu.3_Missense_Mutation_p.P126L|ATF7IP_uc001rbv.1_Missense_Mutation_p.P126L|ATF7IP_uc001rbx.3_Missense_Mutation_p.P126L|ATF7IP_uc010sht.1_Missense_Mutation_p.P126L|ATF7IP_uc001rby.4_Missense_Mutation_p.P126L|ATF7IP_uc001rbz.1_Missense_Mutation_p.P126L|ATF7IP_uc001rca.3_Missense_Mutation_p.P126L|ATF7IP_uc001rcb.3_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	126					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TCTAAACTGCCTGCTGAACCA	0.473000														65			12		0	0	1	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428286	128428286	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:128428286G>A	uc003ysf.3	+	0	430	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|POU5F1B_uc011liu.1_Non-coding_Transcript	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN	Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA.	59						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						TGAGGTGTGGGGGATTCCCCC	0.667000														26			6		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39019623	39019623	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39019623G>A	uc002oit.3	+	75	11197	c.11067G>A	c.(11065-11067)gaG>gaA	p.E3689E	RYR1_uc002oiu.3_Silent_p.E3684E|RYR1_uc002oiv.1_Silent_p.E604E|RYR1_uc010xuf.1_Silent_p.E609E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3689					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	aggaggaagaggtggaagaga	0.612000														11			7		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120845	94120845	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:94120845C>T	uc003poe.3	-	2	447	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	EPHA7_uc003pof.3_Missense_Mutation_p.R69Q|EPHA7_uc011eac.2_Missense_Mutation_p.R69Q|EPHA7_uc003pog.4_Missense_Mutation_p.R69Q	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	69						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R69Q(2)|p.R69*(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTGGTATGTTCGTATCGGGGT	0.393000														61			35		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10647978	10647978	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:10647978G>A	uc010rcc.1	-	8	1289	c.903C>T	c.(901-903)acC>acT	p.T301T	MRVI1_uc010rcb.1_Silent_p.T293T|MRVI1_uc001miw.2_Silent_p.T292T|MRVI1_uc001mix.3_5'UTR|MRVI1_uc001miz.2_Silent_p.T210T|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	274					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTTTGGGTGTGGTCTCGGGGT	0.567000														25			5		0	0	1	0	0
MOS	4342	broad.mit.edu	37	8	57025542	57025542	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:57025542G>A	uc011leb.2	-	0	1000	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F		NM_005372	NP_005363	P00540	MOS_HUMAN	Homo sapiens v-mos Moloney murine sarcoma viral oncogene homolog (MOS), mRNA.	334	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			TCCACCAAAAGCAGCCGCGCG	0.567000														32			8		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265290	39265290	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:39265290C>T	uc001uwv.3	+	0	4118	c.3809C>T	c.(3808-3810)tCc>tTc	p.S1270F		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1270					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CATGATGACTCCGAGACCCAG	0.428000														250			110		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75977862	75977862	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:75977862G>A	uc002baw.3	-	3	4063	c.3970C>T	c.(3970-3972)Cgc>Tgc	p.R1324C		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1324	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCCTCAGGGCGGGAGTGCAGG	0.682000														17			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179648970	179648970	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179648970C>T	uc021vsy.1	-	15	2827	c.2602G>A	c.(2602-2604)Gag>Aag	p.E868K	TTN_uc021vsz.1_Missense_Mutation_p.E822K|TTN_uc021vta.1_Missense_Mutation_p.E822K|TTN_uc021vtb.1_Missense_Mutation_p.E822K|TTN_uc002unb.2_Missense_Mutation_p.E868K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	868							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)			ACTCTAGTCTCACTGGGCTTC	0.502000														59			30		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62547779	62547779	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:62547779G>A	uc001xfu.1	+	3	1418	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	407	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CGAACATACAGAGAGGGCCCA	0.592000														26			8		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325912	57325912	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57325912G>A	uc002qnu.2	-	6	4249	c.3898C>T	c.(3898-3900)Cac>Tac	p.H1300Y	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H1271Y|PEG3_uc002qnv.2_Missense_Mutation_p.H1300Y|PEG3_uc002qnw.2_Missense_Mutation_p.H1176Y|PEG3_uc002qnx.2_Missense_Mutation_p.H1174Y|PEG3_uc010etr.2_Missense_Mutation_p.H1300Y	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1300					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACAGTTACGTGATCTGCAAGT	0.458000														69			21		0	0	1	0	0
TMEM194A	23306	broad.mit.edu	37	12	57453726	57453726	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57453726G>A	uc001smy.3	-	8	1317	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F	TMEM194A_uc001smx.3_Missense_Mutation_p.S351F|TMEM194A_uc010sra.2_Missense_Mutation_p.S165F	NM_001130963	NP_001124435	O14524	T194A_HUMAN	Homo sapiens transmembrane protein 194A (TMEM194A), transcript variant 1, mRNA.	424						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCCTCAGAGGATGCTTCCTC	0.473000														36			19		0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31805774	31805774	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:31805774C>T	uc002rnw.1	-	1	265	c.194G>A	c.(193-195)gGg>gAg	p.G65E		NM_000348	NP_000339	P31213	S5A2_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2), mRNA.	66					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GGCGAGGATCCCCGCGGGCAC	0.667000														17			5		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28272835	28272835	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:28272835C>T	uc009xky.3	-	5	854	c.756G>A	c.(754-756)gtG>gtA	p.V252V	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Silent_p.V252V|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	252							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CGTGAGGTTTCACCAGCACAT	0.393000														57			27		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367196	107367196	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107367196G>A	uc011lvq.2	-	0	713	c.713C>T	c.(712-714)tCc>tTc	p.S238F		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ACAGGTAGAGGAAGCTTTGCT	0.398000														85			6		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111097299	111097299	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:111097299G>A	uc004epl.1	-	3	1855	c.936C>T	c.(934-936)gcC>gcT	p.A312A	TRPC5_uc004epm.1_Silent_p.A312A	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	312					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACCACAGGGTGGCAAGCAACT	0.488000														5			9		0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982295	57982295	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57982295C>T	uc010rkc.2	+	0	79	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGAATTCATTCTCCTGGGATT	0.413000														125			53		0	0	1	0	0
MRPL44	65080	broad.mit.edu	37	2	224824624	224824624	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:224824624C>T	uc002vnr.4	+	1	622	c.553C>T	c.(553-555)Cca>Tca	p.P185S		NM_022915	NP_075066	Q9H9J2	RM44_HUMAN	Homo sapiens mitochondrial ribosomal protein L44 (MRPL44), nuclear gene encoding mitochondrial protein, mRNA.	185	RNase III.				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGAAGAATTCCCAGTGCCCCC	0.483000														101			45		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79341864	79341864	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:79341864C>T	uc002beq.3	-	3	973	c.598G>A	c.(598-600)Gac>Aac	p.D200N	RASGRF1_uc002bep.3_Missense_Mutation_p.D200N|RASGRF1_uc010blm.1_Missense_Mutation_p.D122N|RASGRF1_uc002ber.4_Missense_Mutation_p.D200N	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	200					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATGTCGCTGTCTTCATCGTTG	0.547000														65			15		0	0	1	0	0
MFSD12	126321	broad.mit.edu	37	19	3547939	3547939	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3547939C>T	uc002lxw.3	-	3	914	c.744G>A	c.(742-744)gaG>gaA	p.E248E	MFSD12_uc002lxx.3_Silent_p.E248E|MFSD12_uc002lxy.3_Silent_p.E239E|MFSD12_uc002lxz.3_Silent_p.E248E	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	248					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CGCCTGGCTCCTCCGCATGCG	0.697000														17			7		0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21548335	21548335	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:21548335C>T	uc001bek.2	-	18	2116	c.2041_splice	c.e18-1	p.A681_splice	ECE1_uc001bem.2_Splice_Site_p.A665_splice|ECE1_uc001bej.2_Splice_Site_p.A669_splice|ECE1_uc001bei.2_Splice_Site_p.A678_splice|ECE1_uc010odl.1_Intron	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	681					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TTCTGGTAAGCCTGGGAGGAG	0.597000														100			54		0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150916563	150916563	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:150916563C>T	uc003eyq.4	-	2	851	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|GPR171_uc021xfy.1_Missense_Mutation_p.R204Q	NM_013308	NP_037440	O14626	GP171_HUMAN	Homo sapiens G protein-coupled receptor 171 (GPR171), mRNA.	204						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTAGAGCTGTCGAATTACAAG	0.328000														45			19		0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105386875	105386875	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105386875G>A	uc010qqu.1	-	5	501	c.434C>T	c.(433-435)tCc>tTc	p.S145F	SH3PXD2A_uc010qqr.2_Missense_Mutation_p.S92F|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.S65F|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.S107F|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.S65F|SH3PXD2A_uc001kxj.1_Missense_Mutation_p.S230F	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	230					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GTTGATGTCGGAGTCATCCCG	0.607000														83			28		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14960278	14960278	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:14960278G>A	uc003bzc.3	+	12	3617	c.3507G>A	c.(3505-3507)atG>atA	p.M1169I	FGD5_uc011avk.2_Missense_Mutation_p.M1169I|FGD5_uc003bzd.3_Missense_Mutation_p.M247I	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	1169	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCCCTGTGATGGAGAAAGTGC	0.597000														54			20		0	0	1	0	0
FAIM2	23017	broad.mit.edu	37	12	50295082	50295082	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:50295082C>T	uc001rvj.2	-	1	227	c.42G>A	c.(40-42)ggG>ggA	p.G14G	FAIM2_uc001rvi.2_5'UTR	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA.	14					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						GCCCCTCGGTCCCAGGGGCCT	0.607000														60			15		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114277759	114277759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:114277759C>T	uc003ibe.4	+	37	8085	c.7985C>T	c.(7984-7986)tCc>tTc	p.S2662F	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S2677F	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2629					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGGTGTCTTCCTCCTCAGAA	0.478000														68			22		0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810695	7810695	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7810695G>A	uc002mht.2	-	3	524	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.L129L|CD209_uc002mhr.2_Silent_p.L129L|CD209_uc002mhs.2_Silent_p.L129L|CD209_uc002mhu.2_Silent_p.L153L|CD209_uc010dvq.2_Silent_p.L153L|CD209_uc002mhq.2_Silent_p.L153L|CD209_uc002mhv.2_Silent_p.L129L|CD209_uc002mhx.2_Silent_p.L109L|CD209_uc002mhw.2_Silent_p.L109L|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	153	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.W152R(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCAGCCTTCAGCCAGGTCAGC	0.562000														178			76		0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201287786	201287786	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201287786G>A	uc001gwd.3	+	5	1346	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	PKP1_uc001gwe.3_Silent_p.E365E|PKP1_uc009wzm.3_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	365					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						AGCTGAAGGAGGAACTCATTG	0.597000														46			13		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108872124	108872124	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:108872124G>A	uc010ywo.2	+	3	496	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	166						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GAACTTAGAGGAATTTTATGA	0.428000														94			7		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2437145	2437145	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:2437145C>T	uc010qxl.2	-	7	1128	c.1119G>A	c.(1117-1119)gtG>gtA	p.V373V	TRPM5_uc001lwm.4_Silent_p.V373V|TRPM5_uc009ydn.3_Silent_p.V375V	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	373						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCTTCCACTCCACGTCCCCAT	0.652000														8			3		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69434189	69434189	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69434189C>T	uc021xov.1	-	0	57	c.14G>A	c.(13-15)tGg>tAg	p.W5*		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	5					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GACTGACATCCATTTCAGAGA	0.408000														329			86		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100373312	100373312	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100373312C>T	uc003uwj.3	+	33	6211	c.6046C>T	c.(6046-6048)Ctc>Ttc	p.L2016F	ZAN_uc003uwk.3_Missense_Mutation_p.L2016F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.L104F	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2017	VWFD 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGGTCACCCTCCCCGCCAT	0.567000														59			16		0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33768033	33768033	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:33768033C>T	uc002hjk.1	-	3	2605	c.2275G>A	c.(2275-2277)Ggg>Agg	p.G759R	SLFN13_uc010wch.1_Missense_Mutation_p.G759R|SLFN13_uc002hjl.2_Missense_Mutation_p.G759R|SLFN13_uc002hjm.2_Missense_Mutation_p.G428R|SLFN13_uc010ctt.2_Missense_Mutation_p.G441R	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	759						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCCAGATACCCATGGGGGATA	0.388000														64			41		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699279	60699279	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60699279G>A	uc001nqi.3	+	5	1331	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	TMEM132A_uc001nqj.3_Missense_Mutation_p.E379K|TMEM132A_uc001nqk.3_Missense_Mutation_p.E392K|TMEM132A_uc001nql.1_Missense_Mutation_p.E392K	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	379						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCAGGCCCCTGAAGCAGAGAA	0.592000														101			48		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81236166	81236166	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:81236166G>A	uc002fgh.1	-	5	1082	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	PKD1L2_uc002fgj.3_Missense_Mutation_p.P361L	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	361					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGGCAGAGAGGGCCGGCTCC	0.567000														88			12		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802809	185802809	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:185802809G>A	uc002uph.3	+	3	3280	c.2686G>A	c.(2686-2688)Gag>Aag	p.E896K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	896						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGGTGAAACTGAGCATTTAGA	0.403000														95			28		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230008	21230008	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21230008C>T	uc002red.3	-	25	9860	c.9732G>A	c.(9730-9732)agG>agA	p.R3244R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3244					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTGAAAGGTCCTGGGGAGCT	0.393000														49			15		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417474	150417474	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150417474G>A	uc003whq.3	+	2	522	c.382G>A	c.(382-384)Gac>Aac	p.D128N	GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.D128N	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		CACCGCCCAGGACCAGCAGGC	0.647000														53			7		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140724405	140724405	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140724405C>T	uc003ljm.2	+	0	805	c.805C>T	c.(805-807)Cct>Tct	p.P269S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.P269S	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	269	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)			TGCCACTGACCCTGACGAGGG	0.473000														44			9		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43413570	43413570	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43413570C>T	uc003ouy.1	+	14	3479	c.3264C>T	c.(3262-3264)tcC>tcT	p.S1088S	ABCC10_uc003ouz.1_Silent_p.S1060S|ABCC10_uc010jyo.1_Silent_p.S194S	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1088	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ACAGGGCCTCCTCACGGGAGC	0.667000														59			22		0	0	1	0	0
GLIPR1L1	256710	broad.mit.edu	37	12	75728596	75728596	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:75728596G>A	uc001sxo.3	+	0	134	c.88G>A	c.(88-90)Gac>Aac	p.D30N	CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.3_Missense_Mutation_p.D30N	NM_152779	NP_689992	Q6UWM5	GPRL1_HUMAN	Homo sapiens GLI pathogenesis-related 1 like 1 (GLIPR1L1), mRNA.	30						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						ATCCATCACTGACCCACACTT	0.463000											OREG0021998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			36		0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12006381	12006381	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:12006381C>T	uc001qzz.3	+	3	623	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F		NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	117	PNT.					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CTATGAACTCCTTCAGCATAT	0.443000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""									113			45		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76063292	76063292	+	Missense_Mutation	SNP	C	T	T	rs149762228		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:76063292C>T	uc010kbe.3	-	4	1131	c.601G>A	c.(601-603)Gac>Aac	p.D201N	FILIP1_uc003phy.1_Missense_Mutation_p.D198N|FILIP1_uc003phz.3_Missense_Mutation_p.D99N|FILIP1_uc003pia.3_Missense_Mutation_p.D198N	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	198										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTGAAGTCGTCGCTCTTGTTC	0.532000														162			13		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168289904	168289904	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:168289904C>T	uc021zik.1	+	6	1103	c.784C>T	c.(784-786)Cct>Tct	p.P262S	MLLT4_uc003qwb.1_Missense_Mutation_p.P302S|MLLT4_uc003qwc.2_Missense_Mutation_p.P303S|MLLT4_uc021zij.1_Missense_Mutation_p.P302S|MLLT4_uc003qwf.3_Missense_Mutation_p.P3S|MLLT4_uc021zim.1_5'Flank	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	303	Ras-associating 2.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GGTTATGCTTCCTCCTGGAGC	0.333000			T	MLL	AL									55			44		0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150656705	150656705	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150656705G>A	uc003wic.3	-	2	828	c.427C>T	c.(427-429)Cat>Tat	p.H143Y	KCNH2_uc011kux.2_Missense_Mutation_p.H47Y|KCNH2_uc003wie.3_Missense_Mutation_p.H143Y	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	143	PAC.				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TTGGTGTCATGAGCCGGGGAC	0.592000														65			25		0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59910953	59910953	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:59910953C>T	uc002age.3	+	2	965	c.516C>T	c.(514-516)ttC>ttT	p.F172F	GCNT3_uc002agd.3_Silent_p.F172F|GCNT3_uc021smz.1_Silent_p.F172F	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	172					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGAAACTTTCAAAGAGGCGG	0.463000														121			27		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9916206	9916206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:9916206G>A	uc010uym.2	-	10	2393	c.2083C>T	c.(2083-2085)Cgg>Tgg	p.R695W	GRIN2A_uc002czo.4_Missense_Mutation_p.R695W|GRIN2A_uc010uyn.2_Missense_Mutation_p.R538W|GRIN2A_uc002czr.4_Missense_Mutation_p.R695W	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	695					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAGTTATTCCGAATGTTTCTC	0.458000														75			28		0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108549612	108549612	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108549612G>A	uc003dxi.1	+	1	247	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	TRAT1_uc010hpx.1_Intron	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	35					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.E35K(2)|p.V34V(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CCACTATGTGGAAAAGCAACG	0.428000														86			46		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33246090	33246090	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:33246090C>T	uc021vft.1	+	2	703	c.680C>T	c.(679-681)tCg>tTg	p.S227L		NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	227					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGGACACCTCGTCACCAGTC	0.552000														215			78		0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378278	31378278	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:31378278G>A	uc003tch.3	-	1	958	c.605C>T	c.(604-606)tCa>tTa	p.S202L	NEUROD6_uc022abi.1_Missense_Mutation_p.S202L	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	202					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AGAGTAGGGTGACCTTGTGTG	0.557000														79			19		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21119923	21119923	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:21119923G>A	uc002kum.4	-	17	2921	c.2647C>T	c.(2647-2649)Ctg>Ttg	p.L883L	NPC1_uc010xaz.2_Silent_p.L616L|NPC1_uc010xba.1_Silent_p.L728L	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	883					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCCGCATGCAGGTACTGACTG	0.483000														73			22		0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18765360	18765360	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:18765360G>A	uc010exr.3	-	4	1003	c.891C>T	c.(889-891)ttC>ttT	p.F297F	NT5C1B-RDH14_uc002rcy.3_Silent_p.F355F|NT5C1B-RDH14_uc010yju.2_Silent_p.F295F|NT5C1B-RDH14_uc002rcz.3_Silent_p.F355F|NT5C1B-RDH14_uc010yjw.2_Silent_p.F338F|NT5C1B-RDH14_uc010yjv.2_Silent_p.F372F|NT5C1B-RDH14_uc010exs.3_Silent_p.F357F|NT5C1B-RDH14_uc002rda.3_Silent_p.F295F|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Silent_p.F147F	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	355				S -> W (in Ref. 1; AAK39108).	purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										ATACCTTGACGAAGCGGAACG	0.572000														119			31		0	0	1	0	0
C11orf2	738	broad.mit.edu	37	11	64876153	64876153	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64876153C>T	uc001ocr.1	+	4	1250	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	C11orf2_uc001ocs.1_Missense_Mutation_p.R280C	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	404					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						ACGAGTGGCCCGCGAGCGCCT	0.751000														6			6		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381126	147381126	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:147381126G>A	uc021ovm.1	+	0	1044	c.1044G>A	c.(1042-1044)gaG>gaA	p.E348E	GJA8_uc001epu.2_Silent_p.E348E	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	348					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AGGTGGGAGAGAAGAAGGAGG	0.637000														10			3		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439619	145439619	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:145439619C>T	uc003lnt.3	+	8	1984	c.1746C>T	c.(1744-1746)ctC>ctT	p.L582L	SH3RF2_uc011dbl.1_Silent_p.L582L|SH3RF2_uc011dbm.1_Silent_p.L67L|SH3RF2_uc003lnu.3_Silent_p.L73L|SH3RF2_uc011dbn.1_Silent_p.L73L|SH3RF2_uc011dbo.2_Silent_p.L39L	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	582							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)			AGCCCGCCCTCACGTGCATCA	0.622000														70			19		0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30982993	30982993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30982993C>T	uc002ead.1	+	12	3997	c.3311C>T	c.(3310-3312)cCa>cTa	p.P1104L		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1104	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCAGGCTCCCCAGTCACACCC	0.657000														39			14		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113405329	113405329	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113405329G>A	uc001tug.3	+	12	2883	c.2796G>A	c.(2794-2796)cgG>cgA	p.R932R		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	932	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AGCTACAACGGGACTTCATCA	0.572000														21			8		0	0	1	0	0
TEPP	374739	broad.mit.edu	37	16	58019364	58019364	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:58019364C>T	uc002emv.4	+	5	784	c.747C>T	c.(745-747)ccC>ccT	p.P249P	TEPP_uc002emw.4_Intron	NM_199046	NP_950247	Q6URK8	TEPP_HUMAN	Homo sapiens testis, prostate and placenta expressed (TEPP), transcript variant 1, mRNA.	229						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						CACCGCGCCCCTATCCCTGCT	0.672000														35			19		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160708785	160708785	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:160708785G>A	uc002ubb.4	-	20	2884	c.2810C>T	c.(2809-2811)tCg>tTg	p.S937L	LY75-CD302_uc010fos.3_Missense_Mutation_p.S937L|LY75-CD302_uc002ubc.4_Missense_Mutation_p.S937L	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	937					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TTTCTCTAACGAAGAAACATT	0.373000														84			23		0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74874255	74874255	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:74874255G>A	uc001xpx.2	-	3	948	c.700C>T	c.(700-702)Cag>Tag	p.Q234*		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA.	234					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						TGACCGTTCTGGGACATGTAA	0.642000														77			30		0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158669833	158669833	+	Missense_Mutation	SNP	G	A	A	rs150220329		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158669833G>A	uc001fsu.1	-	0	610	c.610C>T	c.(610-612)Cat>Tat	p.H204Y		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TCCACTGCATGAATGACATCC	0.488000														95			34		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71887770	71887770	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71887770C>T	uc010fen.3	+	44	5133	c.4992C>T	c.(4990-4992)ccC>ccT	p.P1664P	DYSF_uc010fei.3_Silent_p.P1642P|DYSF_uc010feh.3_Silent_p.P1632P|DYSF_uc002sig.4_Silent_p.P1611P|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.P1656P|DYSF_uc010fee.3_Silent_p.P1646P|DYSF_uc010fef.3_Silent_p.P1663P|DYSF_uc002sie.3_Silent_p.P1625P|DYSF_uc010feo.3_Silent_p.P1657P|DYSF_uc010fej.3_Silent_p.P1633P|DYSF_uc010fel.3_Silent_p.P1612P|DYSF_uc010fem.3_Silent_p.P1647P|DYSF_uc002sif.3_Silent_p.P1626P|DYSF_uc010fek.3_Silent_p.P1643P|DYSF_uc010yqy.2_Silent_p.P506P|DYSF_uc010yqz.2_Silent_p.P386P	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1625						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGCTGGAGCCCGTATTTGGAA	0.507000														37			16		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2898716	2898716	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:2898716C>T	uc010ckd.3	+	12	1090	c.1000C>T	c.(1000-1002)Cac>Tac	p.H334Y	RAP1GAP2_uc010cke.3_Missense_Mutation_p.H319Y	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	334	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						GATCATGTTTCACGTTTCCAC	0.587000														55			62		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73636011	73636011	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:73636011G>A	uc002avp.3	-	1	1918	c.924C>T	c.(922-924)atC>atT	p.I308I		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	308					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGACCAAGTCGATGAGGAAGA	0.488000														58			10		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31320253	31320253	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:31320253C>T	uc010dmg.1	+	10	2940	c.2885C>T	c.(2884-2886)tCa>tTa	p.S962L	ASXL3_uc002kxq.2_Missense_Mutation_p.S669L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	962					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCAGAGATATCAAAGAGAAAA	0.423000														11			6		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149508081	149508081	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149508081C>T	uc010lpk.3	+	65	9466	c.9466C>T	c.(9466-9468)Cgt>Tgt	p.R3156C		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3159					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACTGTGGTTCGTCCATGTGA	0.602000														49			6		0	0	1	0	0
RPL13A	23521	broad.mit.edu	37	19	49993505	49993505	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49993505C>T	uc002pny.3	+	2	127	c.105C>T	c.(103-105)gtC>gtT	p.V35V	RPL13A_uc002pnz.3_5'UTR|SNORD33_uc010emz.1_5'Flank|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	Homo sapiens ribosomal protein L13a (RPL13A), mRNA.	35					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		AGGTGGTGGTCGTACGCTGTG	0.577000														39			18		0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141619083	141619083	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141619083G>A	uc003vwu.1	+	0	408	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ACATCATTATGAACAGACACA	0.458000														157			77		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47682233	47682233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47682233C>T	uc003gxm.3	-	7	1150	c.1057G>A	c.(1057-1059)Ggg>Agg	p.G353R	CORIN_uc011bzf.2_Missense_Mutation_p.G214R|CORIN_uc011bzg.2_Missense_Mutation_p.G286R|CORIN_uc011bzh.1_Intron|CORIN_uc011bzi.1_Intron|CORIN_uc003gxn.4_3'UTR	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	353	LDL-receptor class A 3.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.D352N(1)|p.D352H(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ATGCAGCGCCCGTCCCCGCAG	0.532000														36			11		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43771281	43771281	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:43771281G>A	uc010skx.2	-	31	4882	c.4882C>T	c.(4882-4884)Cga>Tga	p.R1628*		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1628	TSP type-1 14.					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)		GGCCGAAGTCGATGGAGCTTA	0.408000														32			8		0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19947154	19947154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:19947154C>T	uc003cbl.4	-	5	1572	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q	EFHB_uc003cbm.3_Missense_Mutation_p.R329Q	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	459					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TGCCATGGCTCGTCCATCATT	0.383000														87			33		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98378568	98378568	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:98378568G>A	uc002syh.4	-	35	5048	c.4819C>T	c.(4819-4821)Ccc>Tcc	p.P1607S	TMEM131_uc002syg.3_5'Flank	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1607						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GCAGCTGGGGGAGACGGGGAA	0.557000														36			17		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113756	59113756	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:59113756C>T	uc001xdw.3	+	3	2579	c.2415C>T	c.(2413-2415)ccC>ccT	p.P805P	DACT1_uc010trv.2_Silent_p.P524P|DACT1_uc001xdx.3_Silent_p.P768P|DACT1_uc010trw.2_Silent_p.P524P	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	805					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						ACAACCACCCCGCAAAAACCT	0.502000														99			30		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004718	248004718	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248004718G>A	uc001idn.1	-	0	481	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L161P(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAAATCATCAGGGAAGGCAGA	0.557000														90			31		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480282	140480282	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140480282C>T	uc003lio.3	+	0	49	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	BC016751_uc003lin.3_Non-coding_Transcript	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	17					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTCTTGCTTCTCTTTGTTTT	0.502000														68			8		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34312544	34312544	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34312544C>T	uc001bxm.1	-	5	1151	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	CSMD2_uc001bxn.1_Missense_Mutation_p.R285Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	285						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAAGTGCAGTCGCAGCCAGTT	0.612000														47			21		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599818	136599818	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:136599818C>T	uc003qgx.1	-	3	454	c.201G>A	c.(199-201)atG>atA	p.M67I	BCLAF1_uc003qgy.1_Missense_Mutation_p.M65I|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.M65I|BCLAF1_uc003qgw.1_Missense_Mutation_p.M67I	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	67					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAGGTCGTCTCATTCCTCTAT	0.428000														87			9		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423464	56423464	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56423464G>A	uc010ygg.2	-	4	1744	c.1719C>T	c.(1717-1719)gtC>gtT	p.V573V		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	573							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGTCAAGCAAGACGTGTTGCA	0.418000														109			40		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178416016	178416016	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178416016C>T	uc003mjr.3	-	5	1453	c.1274G>A	c.(1273-1275)gGg>gAg	p.G425E	GRM6_uc010jla.1_Missense_Mutation_p.G8E|GRM6_uc003mjs.1_Missense_Mutation_p.G45E	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	425					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCCTGTGTGCCCAGGGCAGAG	0.627000														29			6		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93029461	93029461	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:93029461C>T	uc022axs.1	-	2	583	c.396G>A	c.(394-396)ccG>ccA	p.P132P	RUNX1T1_uc003yfc.2_Silent_p.P46P|RUNX1T1_uc010mam.3_Silent_p.P46P|RUNX1T1_uc003yfe.2_Silent_p.P36P|RUNX1T1_uc003yfd.3_Silent_p.P73P|RUNX1T1_uc022axo.1_Silent_p.P73P|RUNX1T1_uc010mao.3_Silent_p.P46P|RUNX1T1_uc011lgi.2_Silent_p.P84P|RUNX1T1_uc022axp.1_Silent_p.P73P|RUNX1T1_uc022axq.1_Silent_p.P73P|RUNX1T1_uc022axr.1_Silent_p.P73P|RUNX1T1_uc022axt.1_Silent_p.P73P|RUNX1T1_uc022axu.1_Silent_p.P53P|RUNX1T1_uc022axv.1_Silent_p.P73P|RUNX1T1_uc003yfb.2_Silent_p.P36P|RUNX1T1_uc003yff.1_Silent_p.P36P|RUNX1T1_uc003yfg.2_Silent_p.P36P	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	73	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TACACGTTGTCGGTGTAAATG	0.388000														84			17		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885060	29885060	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:29885060G>A	uc003afo.3	+	3	1502	c.1431G>A	c.(1429-1431)gaG>gaA	p.E477E	KIAA0845_uc003afp.3_5'Flank	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	477	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						aggagaaagaggccaaagagg	0.507000														20			13		0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	66878844	66878844	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:66878844C>T	uc001vik.3	-	4	4349	c.3657G>A	c.(3655-3657)ctG>ctA	p.L1219L	PCDH9_uc010aei.3_Non-coding_Transcript|PCDH9_uc001vil.3_Silent_p.L1185L|PCDH9_uc010thl.2_Silent_p.L1177L	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	1219					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATAAGACTTCAGATTTGCCA	0.438000														65			20		0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151542595	151542595	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151542595G>A	uc003eze.3	+	3	666	c.576G>A	c.(574-576)ggG>ggA	p.G192G		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	192					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTGCAGGAGGGAATTTAGCTG	0.338000														51			13		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27150156	27150156	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27150156G>A	uc002rhu.4	+	3	614	c.456G>A	c.(454-456)aaG>aaA	p.K152K	DPYSL5_uc002rhv.4_Silent_p.K152K|DPYSL5_uc021vev.1_Silent_p.K152K	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	152					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGGGAGAAGGGTGTCAACT	0.537000														21			7		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54517740	54517740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:54517740G>A	uc002iun.1	+	7	1007	c.972G>A	c.(970-972)atG>atA	p.M324I		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	324	Fibronectin type-III.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AAATCATCATGGATAATCTGC	0.448000														58			19		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20466293	20466293	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:20466293C>T	uc001iqg.1	+	8	1653	c.1016C>T	c.(1015-1017)tCt>tTt	p.S339F	PLXDC2_uc001iqh.1_Missense_Mutation_p.S290F|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	339	PSI.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CCCTGTGTATCTTCTCAGATT	0.348000														133			47		0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32415222	32415222	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:32415222G>A	uc003jhr.1	-	4	716	c.636C>T	c.(634-636)gcC>gcT	p.A212A	ZFR_uc010iun.1_Silent_p.A212A	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	212	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CTGGTTTTATGGCTGTCACTT	0.498000														55			21		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85399759	85399759	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:85399759G>A	uc002ble.3	+	5	2563	c.2396G>A	c.(2395-2397)aGa>aAa	p.R799K		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	799					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)			GAGGATGGGAGAACATCTGCT	0.517000														76			47		0	0	1	0	0
TDP2	51567	broad.mit.edu	37	6	24667042	24667042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:24667042C>T	uc003nej.3	-	0	74	c.49G>A	c.(49-51)Gag>Aag	p.E17K	TDP2_uc010jpu.1_Missense_Mutation_p.E17K|ACOT13_uc010jpv.3_5'Flank|ACOT13_uc003nek.3_5'Flank	NM_016614	NP_057698	O95551	TYDP2_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.	17					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						GGCTCGCCCTCTTCCTCCGCC	0.647000								Direct reversal of damage						242			106		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171384	150171384	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150171384G>A	uc003whj.3	+	3	1297	c.967G>A	c.(967-969)Ggc>Agc	p.G323S		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	323						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)		CATCTGTACAGGCCCCCATGC	0.428000														72			30		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675093	3675093	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3675093G>A	uc002wja.3	-	11	3031	c.3031C>T	c.(3031-3033)Cct>Tct	p.P1011S	SIGLEC1_uc002wiz.4_Missense_Mutation_p.P1011S|SIGLEC1_uc002wjb.1_5'Flank	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1011	Ig-like C2-type 10.				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						TGGGCCGGAGGGTCACTGTCC	0.672000														18			6		0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990672	990672	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:990672C>T	uc003zgw.1	+	1	1124	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	362					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGCCCCCTTTCCCCCAGCCAC	0.587000														58			11		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72926360	72926360	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:72926360G>A	uc001xna.4	+	5	886	c.363G>A	c.(361-363)tcG>tcA	p.S121S	RGS6_uc021rvv.1_Silent_p.S86S|RGS6_uc010ttn.2_Silent_p.S121S|RGS6_uc021rvw.1_Silent_p.S121S|RGS6_uc021rvx.1_Silent_p.S121S|RGS6_uc021rvy.1_Silent_p.S121S|RGS6_uc021rvz.1_Silent_p.S121S|RGS6_uc001xmy.4_Silent_p.S121S|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Silent_p.S121S|RGS6_uc021rwa.1_Silent_p.S121S|RGS6_uc021rwb.1_Silent_p.S121S|RGS6_uc010ttp.1_Silent_p.S52S|RGS6_uc010arg.3_Non-coding_Transcript	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	121					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TCTGGCCTTCGAACTGCTGGG	0.572000														68			19		0	0	1	0	0
AMZ2	51321	broad.mit.edu	37	17	66251903	66251903	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:66251903C>T	uc002jgt.1	+	6	958	c.813C>T	c.(811-813)ctC>ctT	p.L271L	AMZ2_uc002jgs.1_Silent_p.L271L|AMZ2_uc002jgr.1_Silent_p.L271L|AMZ2_uc002jgu.1_Silent_p.L271L|AMZ2_uc002jgv.1_Silent_p.L271L|AMZ2_uc002jgw.1_Silent_p.L213L|AMZ2_uc002jgy.1_Silent_p.L271L	NM_001033570	NP_057711	Q86W34	AMZ2_HUMAN	Homo sapiens archaelysin family metallopeptidase 2 (AMZ2), transcript variant 3, mRNA.	271							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTGCATGCCTCATGCAAGGCT	0.498000														84			42		0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52556597	52556597	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:52556597G>A	uc002lfr.3	+	5	853	c.610G>A	c.(610-612)Gga>Aga	p.G204R		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	204					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		TGGAAATTCTGGAAACTTGGA	0.398000														62			25		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495414	20495414	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:20495414G>A	uc001ytf.1	+	4		c.617G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TGAGGAAAATGAATCCACAGC	0.393000														71			14		0	0	1	0	0
KIF5B	3799	broad.mit.edu	37	10	32320161	32320161	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:32320161A>G	uc001iwe.4	-	13	1891	c.1421T>C	c.(1420-1422)cTg>cCg	p.L474P		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	474					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				AAGGCGATTCAGCTCAGCTTG	0.373000			T	"""RET, ALK"""	NSCLC									50			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069754	9069754	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9069754G>A	uc002mkp.3	-	2	17896	c.17692C>T	c.(17692-17694)Cca>Tca	p.P5898S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5900	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						TCTGAGTGTGGAAATCTCTGA	0.517000														92			26		0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193390	28193390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:28193390C>T	uc003adj.3	-	0	4097	c.3142G>A	c.(3142-3144)Gag>Aag	p.E1048K		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	1048							binding	p.E1048K(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GTGCTCACCTCGTCCGAGGCG	0.627000			T	ETV6	"""AML, meningioma"""									98			7		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696708	153696708	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:153696708C>T	uc004flm.3	+	22	4199	c.4026C>T	c.(4024-4026)ttC>ttT	p.F1342F		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1342					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCGCGCGTTCGTGCTTACCT	0.697000														10			14		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81648681	81648681	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81648681G>A	uc001szl.1	+	15	2132	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	ACSS3_uc001szm.1_Missense_Mutation_p.E680K|ACSS3_uc001szn.1_Missense_Mutation_p.E363K	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	681						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CCACGTAGAAGAAATGCTGAA	0.308000														89			27		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183816	13183816	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:13183816G>A	uc010obg.2	-	1	300	c.57C>T	c.(55-57)ttC>ttT	p.F19F		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	19						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										GATTCCCAATGAACACACGGG	0.458000														88			26		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88300558	88300558	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:88300558G>A	uc001pcq.3	-	6	2493	c.2293C>T	c.(2293-2295)Cca>Tca	p.P765S	GRM5_uc009yvm.3_Missense_Mutation_p.P765S	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	765					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AAGTTAGCTGGAACATTTCTG	0.438000														137			52		0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113303252	113303252	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113303252G>A	uc010syl.2	+	5	626	c.264G>A	c.(262-264)aaG>aaA	p.K88K	RPH3A_uc001ttz.3_Silent_p.K88K|RPH3A_uc001tty.3_Silent_p.K84K|RPH3A_uc009zwe.1_Silent_p.K84K|RPH3A_uc010sym.2_Silent_p.K39K|RPH3A_uc001tua.3_5'Flank	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	88	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ACATGAGGAAGAACGTGGCTG	0.537000														107			7		0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	121002954	121002954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:121002954C>T	uc001typ.4	+	10	2228	c.1745C>T	c.(1744-1746)cCt>cTt	p.P582L	RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Missense_Mutation_p.P493L	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	582					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTTTGCAACCTCCTGTGGTC	0.478000														128			16		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88853872	88853872	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:88853872G>A	uc010kbz.3	-	1	1252	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	CNR1_uc011dzr.2_Silent_p.L374L|CNR1_uc011dzs.2_Silent_p.L374L|CNR1_uc003pmq.4_Silent_p.L374L|CNR1_uc011dzt.2_Silent_p.L374L|CNR1_uc010kca.3_Silent_p.L341L|CNR1_uc021zco.1_Silent_p.L374L	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	374					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CCGTCTTAATGAGCTTGTTCA	0.512000														52			31		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603012	111603012	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:111603012G>A	uc010hqa.3	+	1	499	c.88G>A	c.(88-90)Gat>Aat	p.D30N	PHLDB2_uc003dyc.3_Missense_Mutation_p.D57N|PHLDB2_uc003dyd.3_Missense_Mutation_p.D30N|PHLDB2_uc003dyg.3_Missense_Mutation_p.D30N|PHLDB2_uc003dyh.3_Missense_Mutation_p.D30N|PHLDB2_uc003dye.4_Missense_Mutation_p.D30N|PHLDB2_uc003dyf.4_Missense_Mutation_p.D30N	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	30						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGTTGAGAACGATTCCCAAAA	0.418000														154			68		0	0	1	0	0
OCM	654231	broad.mit.edu	37	7	5925699	5925699	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:5925699C>T	uc003spe.4	+	3	401	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_001097622	NP_001091091	P0CE72	ONCO_HUMAN	Homo sapiens oncomodulin (OCM), mRNA.	103	EF-hand 2.						calcium ion binding			endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		TTCTAGAATTCCAGGAAATGG	0.493000														52			23		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52813459	52813459	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52813459G>A	uc003dfs.3	+	4	452	c.422G>A	c.(421-423)aGa>aAa	p.R141K	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_5'UTR|ITIH1_uc021wzg.1_5'Flank|ITIH1_uc021wzh.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	141	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GCCTCGGGGAGAACTATGGAG	0.507000														31			18		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507732	155507732	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155507732C>T	uc003iod.1	-	4	907	c.849G>A	c.(847-849)acG>acA	p.T283T	FGA_uc003ioe.1_Silent_p.T283T|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	283					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.T283M(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TGGGGCTTTCCGTCTCTGATC	0.542000														133			53		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813411	24813411	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:24813411G>A	uc001iru.4	+	12	3019	c.2616G>A	c.(2614-2616)gcG>gcA	p.A872A	KIAA1217_uc001irs.3_Silent_p.A792A|KIAA1217_uc001irt.4_Silent_p.A837A|KIAA1217_uc010qcy.2_Silent_p.A837A|KIAA1217_uc010qcz.2_Silent_p.A837A|KIAA1217_uc001irv.1_Silent_p.A687A|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Silent_p.A555A|KIAA1217_uc001irz.3_Silent_p.A555A|KIAA1217_uc001irx.3_Silent_p.A555A|KIAA1217_uc001iry.3_Silent_p.A555A	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	872					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTGGCGATGCGAAGTCGGAAG	0.642000														48			18		0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23344336	23344336	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23344336C>T	uc001whd.3	+	3	841	c.288C>T	c.(286-288)tcC>tcT	p.S96S	LRP10_uc001whe.3_5'UTR	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	96	CUB 1.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CACTGATCTCCCTGTGTGAGG	0.622000														49			13		0	0	1	0	0
BEST4	266675	broad.mit.edu	37	1	45250845	45250845	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:45250845C>T	uc001cmm.3	-	5	896	c.847G>A	c.(847-849)Gac>Aac	p.D283N		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	Homo sapiens bestrophin 4 (BEST4), mRNA.	283						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					ATGTCCGGGTCTCCCAGGGCT	0.627000														80			18		0	0	1	0	0
ANO8	57719	broad.mit.edu	37	19	17435792	17435792	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17435792G>A	uc002ngf.2	-	16	3224	c.3065C>T	c.(3064-3066)cCt>cTt	p.P1022L	ANO8_uc010eap.2_Non-coding_Transcript	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	1022						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GAGGAAGGCAGGCAGGCGGGT	0.672000														140			59		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71395335	71395335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:71395335G>A	uc010dfm.3	-	21	3065	c.3065C>T	c.(3064-3066)tCc>tTc	p.S1022F	SDK2_uc002jjt.4_Missense_Mutation_p.S181F|SDK2_uc010dfn.2_Missense_Mutation_p.S701F	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1022	Fibronectin type-III 5.				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						GCGGGAGATGGAGGTTTTCCC	0.637000														24			15		0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77457903	77457903	+	Missense_Mutation	SNP	G	A	A	rs138457062	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:77457903G>A	uc002lnh.2	+	3	683	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	CTDP1_uc002lni.2_Missense_Mutation_p.R179Q|CTDP1_uc010drd.2_Missense_Mutation_p.R179Q|CTDP1_uc021ult.1_Missense_Mutation_p.R60Q	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	179	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CGACTGCACCGAAACCGGAAG	0.473000														42			20		0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156834207	156834207	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156834207G>A	uc001fqh.1	+	1	330	c.274G>A	c.(274-276)Gag>Aag	p.E92K	NTRK1_uc001fqf.1_Missense_Mutation_p.E62K|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Missense_Mutation_p.E92K|NTRK1_uc009wsk.1_Missense_Mutation_p.E92K	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	92					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	p.E92fs*2(1)		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)	GGGCCTGGGGGAGCTGAGAAA	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				29			12		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62036634	62036634	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62036634G>A	uc002jds.1	-	11	2087	c.2010C>T	c.(2008-2010)tcC>tcT	p.S670S		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	670					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCAGACGGAAGGAGCGTAGCA	0.597000														49			17		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48413716	48413716	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48413716G>A	uc001jfa.1	-	1	1312	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	384					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCTTTGTGGGGAACTTGAGAT	0.577000														39			6		0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27348760	27348760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:27348760G>A	uc003xfu.3	+	0	116	c.35G>A	c.(34-36)gGg>gAg	p.G12E	EPHX2_uc010lut.1_Missense_Mutation_p.G12E|EPHX2_uc010luv.3_5'UTR|EPHX2_uc003xfv.3_5'UTR|EPHX2_uc010luw.3_5'UTR	NM_001979	NP_001970	P34913	HYES_HUMAN	Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	12	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	Golgi apparatus|cytosol|focal adhesion|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GACCTTGACGGGGTGCTGGCG	0.741000														8			5		0	0	1	0	0
POU2AF1	5450	broad.mit.edu	37	11	111229584	111229584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:111229584C>T	uc001plg.4	-	1	331	c.76G>A	c.(76-78)Gag>Aag	p.E26K		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	26					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		TTCACTGGCTCCTTCACACGG	0.632000			T	BCL6	NHL									33			10		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424653	56424653	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56424653C>T	uc010ygg.2	-	4	555	c.530G>A	c.(529-531)aGa>aAa	p.R177K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	177							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTATTTTCTTCTGTGGTCTAG	0.413000														108			52		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344390	56344390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56344390C>T	uc001niz.1	-	0	808	c.808G>A	c.(808-810)Gag>Aag	p.E270K	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ATTTTGGACTCCTCTACAGAC	0.423000														192			64		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657294	72657294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:72657294C>T	uc003txs.1	-	12	2618	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		caggagttttctctccatcgc	0.448000														82			45		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237374332	237374332	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:237374332C>T	uc002vwb.2	-	5	797	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	IQCA1_uc002vvz.1_Missense_Mutation_p.E248K|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.E248K	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	248							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GCACTGACTTCATTAAAGAGA	0.418000														18			4		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48286021	48286021	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:48286021C>T	uc010rht.2	+	0	609	c.609C>T	c.(607-609)tcC>tcT	p.S203S		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						ATGGCGGCTCCATCTCCGTAG	0.547000														32			19		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186437989	186437989	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:186437989G>A	uc011bsa.2	+	1	525	c.291G>A	c.(289-291)aaG>aaA	p.K97K	KNG1_uc003fqr.3_Silent_p.K97K|KNG1_uc021xil.1_Silent_p.K97K	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	97	Cystatin 1.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	p.Y96*(1)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GTGAGTACAAGGATGCTGCAA	0.453000														36			23		0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50220340	50220340	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:50220340G>A	uc003cyj.3	+	9	1105	c.907G>A	c.(907-909)Gat>Aat	p.D303N	SEMA3F_uc003cyk.3_Missense_Mutation_p.D272N	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	303	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CCCCCAGAACGATGACGGTGG	0.617000														21			5		0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962425	165962425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:165962425C>T	uc003iqy.1	+	2	1371	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S	TRIM60_uc010iqx.1_Missense_Mutation_p.P401S|TRIM60_uc021xty.1_Missense_Mutation_p.P401S	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	401	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TGCGTCAGGTCCTAAGACAAC	0.428000														111			62		0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14150715	14150715	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:14150715G>A	uc002mxx.3	+	3	950	c.527G>A	c.(526-528)tGg>tAg	p.W176*		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	176	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GAGGCGGCCTGGACCCTGGTG	0.587000														86			47		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162833346	162833346	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:162833346G>A	uc002ubx.4	+	24	3488	c.3304G>A	c.(3304-3306)Gat>Aat	p.D1102N	SLC4A10_uc010zcs.2_Missense_Mutation_p.D1083N|SLC4A10_uc002uby.4_Missense_Mutation_p.D1072N	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	1102					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GATTACTGCCGATAACTCAAA	0.348000														17			4		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40231732	40231732	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:40231732G>A	uc003cka.3	+	9	1578	c.1443G>A	c.(1441-1443)agG>agA	p.R481R	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Silent_p.R481R|MYRIP_uc010hhw.3_Silent_p.R392R|MYRIP_uc011ayz.2_Silent_p.R294R|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	481	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGGCCCCCAGGAACCCTGCAG	0.632000														87			27		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19955098	19955098	+	Silent	SNP	C	T	T	rs113762718		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:19955098C>T	uc010rdm.2	+	7	1738	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	NAV2_uc001mpp.3_Silent_p.F372F|NAV2_uc001mpr.4_Silent_p.F436F|NAV2_uc021qew.1_Silent_p.F436F	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	459						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGCCCAGCTTCGAAGAGAGCG	0.612000														75			33		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78433820	78433820	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:78433820G>A	uc001ozl.4	-	23	4156	c.3693C>T	c.(3691-3693)gcC>gcT	p.A1231A		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1231					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GGGCCACTGGGGCCAGGAGCT	0.577000														90			11		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7708370	7708370	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7708370C>T	uc002giu.1	+	58	9292	c.9278C>T	c.(9277-9279)cCc>cTc	p.P3093L	DNAH2_uc010cnm.1_Intron	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3093	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGGCACTGCCCGCCCTGGAA	0.587000														48			45		0	0	1	0	0
OAT	4942	broad.mit.edu	37	10	126092381	126092381	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:126092381A>G	uc001lhp.3	-	5	890	c.757T>C	c.(757-759)Tgc>Cgc	p.C253R	OAT_uc001lhr.3_Missense_Mutation_p.C115R|OAT_uc001lhq.3_Non-coding_Transcript	NM_000274	NP_001165285	P04181	OAT_HUMAN	Homo sapiens ornithine aminotransferase (OAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	253					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	TGCCTGGTGCAGAGCTCTCGC	0.517000											OREG0020605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			15		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36893798	36893798	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36893798G>A	uc003cgj.3	-	12	4704	c.4456C>T	c.(4456-4458)Cag>Tag	p.Q1486*		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1486					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAATAGAACTGAAGTAAATCC	0.418000														17			4		0	0	1	0	0
ORM1	5004	broad.mit.edu	37	9	117094122	117094122	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117094122G>A	uc011lxo.2	+	4	564	c.453G>A	c.(451-453)acG>acA	p.T151T	ORM1_uc004bil.3_Silent_p.T151T	NM_000607	NP_000598	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 1 (ORM1), mRNA.	151					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	AGCCAGAGACGACCAAGGAGC	0.607000														32			13		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169141143	169141144	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:169141143_169141144GG>AA	uc003maf.3	+	17	1851_1852	c.1771_1772GG>AA	c.(1771-1773)ggg>AAg	p.G591K	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.G83K|DOCK2_uc010jjl.1_Missense_Mutation_p.G109K	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	591	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			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)			CAGTGTTGGGGGGCTTTCTGTC	0.545000														49			22		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106552875	106552875	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:106552875C>T	uc003prd.2	+	4	1074	c.840C>T	c.(838-840)ctC>ctT	p.L280L	PRDM1_uc003pre.3_Silent_p.L146L	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	280					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AAAAGGACCTCGATGACTTTA	0.507000			"""D, N, Mis, F, S"""		DLBCL									199			44		0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236535	33236535	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:33236535G>A	uc001bvu.1	+	5	1799	c.1755G>A	c.(1753-1755)tcG>tcA	p.S585S	KIAA1522_uc010ohm.1_Silent_p.S537S|KIAA1522_uc001bvv.2_Silent_p.S526S|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	526	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GTGGATACTCGAGCCAAAGTG	0.662000														32			20		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41581076	41581076	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:41581076C>T	uc003xok.3	-	7	871	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.A263T|ANK1_uc003xoj.3_Missense_Mutation_p.A263T|ANK1_uc003xol.3_Missense_Mutation_p.A263T|ANK1_uc003xom.3_Missense_Mutation_p.A296T	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	263	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.G262*(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTATCTGGGCTCCCCGATCC	0.652000														100			22		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77347614	77347614	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77347614G>A	uc004ajl.1	-	36	6053	c.5815C>T	c.(5815-5817)Cct>Tct	p.P1939S	TRPM6_uc004ajk.1_Missense_Mutation_p.P1934S|TRPM6_uc022bib.1_Missense_Mutation_p.P1934S|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.P890S|TRPM6_uc010mpd.1_Missense_Mutation_p.P772S|TRPM6_uc010mpe.1_Missense_Mutation_p.P486S|TRPM6_uc004ajj.1_Missense_Mutation_p.P895S	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1939	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTGACTTCAGGTTTTATAACA	0.254000														36			8		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607562	42607562	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:42607562G>A	uc003bcj.1	-	0	3884	c.3750C>T	c.(3748-3750)ccC>ccT	p.P1250P	TCF20_uc003bck.1_Silent_p.P1250P	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCATGATTAAGGGGTTTTGAG	0.463000														96			6		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157085	22157085	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22157085G>A	uc021urr.1	-	3	900	c.751C>T	c.(751-753)Cat>Tat	p.H251Y	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)				TCTCCAGTATGAATTACCTTA	0.353000														47			24		0	0	1	0	0
ZNF559	84527	broad.mit.edu	37	19	9449179	9449179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9449179C>T	uc002mle.4	+	2	553	c.146C>T	c.(145-147)tCt>tTt	p.S49F	ZNF559_uc002mld.3_Missense_Mutation_p.S49F|ZNF559_uc021uoj.1_Intron|ZNF559_uc010xkn.2_Intron|ZNF559_uc021uok.1_5'UTR|ZNF559_uc021uol.1_5'UTR|ZNF559_uc010dwk.2_Missense_Mutation_p.S13F|ZNF559_uc002mlf.3_5'UTR|ZNF559_uc010dwl.2_Missense_Mutation_p.S49F|ZNF559_uc002mlh.2_Non-coding_Transcript|ZNF559_uc021uom.1_5'UTR|ZNF177_uc002mli.3_5'UTR|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GATCATCTTTCTCAAGATGTT	0.388000														40			24		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1437209	1437209	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1437209G>A	uc002qwr.3	+	4	266	c.180_splice	c.e4-1	p.R60_splice	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Splice_Site_p.R60_splice|TPO_uc002qww.3_Splice_Site_p.R60_splice|TPO_uc002qwx.3_Splice_Site_p.R60_splice|TPO_uc002qwu.3_Splice_Site_p.R60_splice|TPO_uc010yio.2_Splice_Site_p.R60_splice|TPO_uc010yip.2_Splice_Site_p.R60_splice	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	60					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ATGTGCCATAGAAACCTCAAG	0.363000														79			10		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38858489	38858489	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38858489G>A	uc021yzh.1	+	57	8644	c.8535G>A	c.(8533-8535)atG>atA	p.M2845I	DNAH8_uc003ooe.2_Missense_Mutation_p.M2628I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATGTGAGATGATTGTGAATT	0.358000														97			43		0	0	1	0	0
KIAA0317	9870	broad.mit.edu	37	14	75136681	75136681	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75136681G>A	uc001xqb.3	-	13	2262	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	KIAA0317_uc010tut.1_Missense_Mutation_p.A425V	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	586	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		TATGATTTGGGCCAGGAAAGA	0.542000														87			32		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240286576	240286576	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240286576C>T	uc010pye.2	+	1	1938	c.1713C>T	c.(1711-1713)ctC>ctT	p.L571L	FMN2_uc010pyd.2_Silent_p.L571L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	571					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGGGTCTTCTCCTTCCTTTTA	0.507000														85			30		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7677065	7677065	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7677065G>A	uc002mgu.4	+	12	1868	c.1767G>A	c.(1765-1767)gtG>gtA	p.V589V	CAMSAP3_uc002mgv.4_Silent_p.V562V|CAMSAP3_uc002mgw.3_5'Flank	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	562					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						ACTCCGAGGTGAAAATGACCA	0.672000														13			7		0	0	1	0	0
HLF	3131	broad.mit.edu	37	17	53398087	53398087	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:53398087C>T	uc002iug.1	+	3	1260	c.735C>T	c.(733-735)gcC>gcT	p.A245A	HLF_uc010dce.1_Silent_p.A160A|HLF_uc002iuh.2_Silent_p.A160A|HLF_uc010wni.1_Silent_p.A192A	NM_002126	NP_002117	Q16534	HLF_HUMAN	Homo sapiens hepatic leukemia factor (HLF), mRNA.	245					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						CCCGCGACGCCCGGAGGCTGA	0.567000			T	TCF3	ALL									42			11		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71871187	71871187	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71871187C>T	uc010fen.3	+	41	4761	c.4620C>T	c.(4618-4620)acC>acT	p.T1540T	DYSF_uc010fei.3_Silent_p.T1518T|DYSF_uc010feh.3_Silent_p.T1508T|DYSF_uc002sig.4_Silent_p.T1487T|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.T1532T|DYSF_uc010fee.3_Silent_p.T1522T|DYSF_uc010fef.3_Silent_p.T1539T|DYSF_uc002sie.3_Silent_p.T1501T|DYSF_uc010feo.3_Silent_p.T1533T|DYSF_uc010fej.3_Silent_p.T1509T|DYSF_uc010fel.3_Silent_p.T1488T|DYSF_uc010fem.3_Silent_p.T1523T|DYSF_uc002sif.3_Silent_p.T1502T|DYSF_uc010fek.3_Silent_p.T1519T|DYSF_uc010yqy.2_Silent_p.T382T|DYSF_uc010yqz.2_Silent_p.T262T	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1501						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATTTTGACACCCTGAAGGTAA	0.507000														14			4		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19747261	19747261	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:19747261C>T	uc003jgd.3	-	3	847	c.313G>A	c.(313-315)Gat>Aat	p.D105N	CDH18_uc011cnm.2_Missense_Mutation_p.D105N|CDH18_uc003jgc.3_Missense_Mutation_p.D105N|CDH18_uc021xwu.1_Missense_Mutation_p.D105N	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	105	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D104_D105>EY(3)|p.D105Y(3)|p.D104E(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCCGTGGTATCGTCAATGATA	0.438000														86			28		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57910260	57910260	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:57910260C>T	uc002aei.3	+	2	323	c.192C>T	c.(190-192)acC>acT	p.T64T	GCOM1_uc002aej.3_Silent_p.T64T|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Silent_p.T64T|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Silent_p.T64T	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	64					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GAGAACCTACCAGGAAACTTC	0.433000														83			20		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949941	198949941	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:198949941G>A	uc010fsp.3	+	1	2098	c.1700G>A	c.(1699-1701)aGg>aAg	p.R567K	PLCL1_uc002uuv.4_Missense_Mutation_p.R488K	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	567	Interaction with GABA A beta subunit (By similarity).				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.C566S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATGTCTCGAAGGATGTCGGTA	0.393000														92			28		0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30255248	30255248	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:30255248C>T	uc001msl.3	+	2	360	c.291C>T	c.(289-291)gcC>gcT	p.A97A	FSHB_uc001msm.3_Silent_p.A97A|FSHB_uc001msn.3_Silent_p.A97A	NM_000510	NP_001018090	P01225	FSHB_HUMAN	Homo sapiens follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 1, mRNA.	97					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	ACCCAGTGGCCACCCAGTGTC	0.498000														36			17		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004702	52004702	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52004702G>A	uc002pwx.1	-	0	342	c.286C>T	c.(286-288)Ctt>Ttt	p.L96F	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	96	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding	p.L96P(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGGTCCCCAAGGAGGTGGAAT	0.542000														161			39		0	0	1	0	0
KLK2	3817	broad.mit.edu	37	19	51379750	51379750	+	Missense_Mutation	SNP	C	T	T	rs147080743		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51379750C>T	uc002ptv.3	+	2	270	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	KLK2_uc010eog.3_5'UTR|KLK2_uc010yck.2_Missense_Mutation_p.R77W|KLK2_uc002ptt.3_Non-coding_Transcript|KLK2_uc010ycl.2_Missense_Mutation_p.R60W|KLK2_uc010ycm.2_5'UTR|KLK2_uc002ptu.3_Missense_Mutation_p.R77W	NM_005551	NP_005542	P20151	KLK2_HUMAN	Homo sapiens kallikrein-related peptidase 2 (KLK2), transcript variant 1, mRNA.	77	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CTGGCTGGGTCGGCACAACCT	0.567000			T	ETV4	prostate									41			16		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124390561	124390562	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124390561_124390562GG>AA	uc001lgk.1	+	45	5829_5830	c.5723_5724GG>AA	c.(5722-5724)ggg>gAA	p.G1908E	DMBT1_uc001lgl.1_Missense_Mutation_p.G1898E|DMBT1_uc001lgm.1_Missense_Mutation_p.G1280E|DMBT1_uc021qaf.1_Missense_Mutation_p.G1908E|DMBT1_uc021qag.1_Missense_Mutation_p.G1898E|DMBT1_uc021qah.1_Missense_Mutation_p.G1280E|DMBT1_uc009xzz.1_Missense_Mutation_p.G1908E|DMBT1_uc010qtx.1_Missense_Mutation_p.G628E|DMBT1_uc009yab.1_Missense_Mutation_p.G611E|DMBT1_uc009yac.1_Missense_Mutation_p.G202E	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1908	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGCACCTGGGGGACAGTTTGTG	0.480000														39			17		0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32089063	32089063	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32089063G>A	uc003nzn.3	-	5	574	c.541C>T	c.(541-543)Ctc>Ttc	p.L181F	ATF6B_uc003nzo.3_Missense_Mutation_p.L178F|ATF6B_uc003nzp.1_5'Flank|ATF6B_uc011dpg.2_Missense_Mutation_p.L115F|ATF6B_uc011dph.2_Missense_Mutation_p.L181F	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	181					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCGGCTGAGAGCAGGGAGGCC	0.537000														22			5		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	123987692	123987692	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:123987692G>A	uc003ehg.3	+	4	680	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	KALRN_uc010hrv.1_Missense_Mutation_p.E185K|KALRN_uc003ehf.1_Missense_Mutation_p.E185K|KALRN_uc011bjy.1_Missense_Mutation_p.E185K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	185					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTGGATCGAACTGCGGCT	0.602000														48			18		0	0	1	0	0
MYEOV	26579	broad.mit.edu	37	11	69063826	69063826	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:69063826C>T	uc001oov.3	+	2	1359	c.909C>T	c.(907-909)ctC>ctT	p.L303L	MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Silent_p.L303L|MYEOV_uc001oow.3_Silent_p.L245L	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA.	303										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		accacctcctcctcctcctcc	0.577000														4			4		0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75107456	75107456	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:75107456C>T	uc002snd.3	+	9	3256	c.1330C>T	c.(1330-1332)Cgc>Tgc	p.R444C		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	444	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.L443L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CCGCTTCCTCCGCTCCGAGGA	0.617000														228			113		0	0	1	0	0
C6orf221	154288	broad.mit.edu	37	6	74073372	74073372	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:74073372C>T	uc003pgt.4	+	2	496	c.443C>T	c.(442-444)tCg>tTg	p.S148L		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	148										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						ACGCAGCGTTCGGTGGAGGTC	0.677000														31			28		0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200635747	200635747	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:200635747G>A	uc009wzk.3	-	1	365	c.122C>T	c.(121-123)cCc>cTc	p.P41L	DDX59_uc010ppl.1_Missense_Mutation_p.P41L	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA.	41						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AGCATCAACGGGAACATCTCT	0.468000														139			50		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702757	27702757	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:27702757G>A	uc001itu.2	-	0	541	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	141					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCGCCAGCAGGAAGATCCAGG	0.662000														78			30		0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46916050	46916050	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46916050C>T	uc002pep.3	-	0	870	c.18G>A	c.(16-18)gaG>gaA	p.E6E		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	6						plasma membrane		p.E6*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		agtcgacgtcctccccgatct	0.602000														46			8		0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46754528	46754528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46754528C>T	uc003cqe.1	-	4	1266	c.784G>A	c.(784-786)Gag>Aag	p.E262K	PRSS50_uc021wxe.1_Missense_Mutation_p.E262K|PRSS50_uc003cqf.2_Missense_Mutation_p.E176K	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	262	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACTTCCTTCTCCTGAATGGTC	0.532000														189			81		0	0	1	0	0
BC070322	0	broad.mit.edu	37	9	69634669	69634669	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:69634669G>A	uc004afu.3	-	2		c.402C>T								Homo sapiens aquaporin 7 pseudogene 2, mRNA (cDNA clone IMAGE:30406582).																		GATGCGGGGGGGGCAGGTCCC	0.572000														191			12		0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130982538	130982538	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130982538G>A	uc022bob.1	+	5	854	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	DNM1_uc022bnx.1_Missense_Mutation_p.R256Q|DNM1_uc022bny.1_Missense_Mutation_p.R256Q|DNM1_uc022bnz.1_Missense_Mutation_p.R256Q|DNM1_uc022boa.1_Missense_Mutation_p.R256Q	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	256					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	p.R256L(3)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GCTGCTGAACGAAAGTTCTTC	0.547000														100			61		0	0	1	0	0
REPIN1	29803	broad.mit.edu	37	7	150069245	150069245	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150069245C>T	uc022apt.1	-	0	789	c.421G>A	c.(421-423)Ggg>Agg	p.G141R	REPIN1_uc003whd.2_Silent_p.P294P|REPIN1_uc010lpq.1_Silent_p.P305P|REPIN1_uc010lpr.1_Silent_p.P362P|REPIN1_uc003whc.2_Silent_p.P305P|REPIN1_uc003whe.2_Silent_p.P305P			Q9BWE0	REPI1_HUMAN	Homo sapiens mRNA; cDNA DKFZp762K135 (from clone DKFZp762K135).	0					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GGCACAAACCCAACCTGCTGT	0.672000														16			11		0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30510853	30510853	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30510853G>A	uc010gdx.1	+	7	914	c.661G>A	c.(661-663)Gga>Aga	p.G221R	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Missense_Mutation_p.G108R|TTLL9_uc010ztp.1_Non-coding_Transcript|TTLL9_uc010ztq.1_Non-coding_Transcript	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	221	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	p.I220M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTACCTGATAGGAGGTGAGAT	0.483000														73			27		0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48255634	48255634	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:48255634G>A	uc002lev.3	+	5	2174	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	MAPK4_uc010xdm.2_Missense_Mutation_p.D181N|MAPK4_uc010doz.3_3'UTR	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	392					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		ACTGGCTGAGGACGTGCAGGT	0.701000														26			8		0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445462	87445462	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:87445462G>A	uc002fjz.1	-	11	2481	c.2454C>T	c.(2452-2454)tcC>tcT	p.S818S	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Silent_p.S594S	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	818					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGGTGAACACGGACGGACCGG	0.652000														11			3		0	0	1	0	0
SPC25	57405	broad.mit.edu	37	2	169730139	169730139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169730139G>A	uc002uel.3	-	5	637	c.506C>T	c.(505-507)cCa>cTa	p.P169L		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.	169	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						AAACATAAATGGGCTCTCAGG	0.338000														153			29		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018713	62018713	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62018713G>A	uc002jds.1	-	23	5006	c.4929C>T	c.(4927-4929)ttC>ttT	p.F1643F		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1643					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGTGTCCACGAAGTCTGAGA	0.567000														62			19		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179732796	179732796	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179732796G>A	uc002une.2	-	15	2649	c.2531C>T	c.(2530-2532)gCc>gTc	p.A844V	CCDC141_uc002unf.1_Missense_Mutation_p.A323V	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	269	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TAAGGAAAGGGCCAGTCTGTG	0.522000														72			16		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876232	35876232	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35876232G>A	uc003jjs.3	+	7	1113	c.1024G>A	c.(1024-1026)Ggg>Agg	p.G342R	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	342					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GAGGCTTGGAGGGGATGTGCA	0.488000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							41			17		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7828164	7828164	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7828164C>T	uc010dvt.3	+	0	130	c.12C>T	c.(10-12)tcC>tcT	p.S4S	CLEC4M_uc010xjv.1_Silent_p.S4S|CLEC4M_uc002mhy.2_Silent_p.S4S|CLEC4M_uc002mih.3_Silent_p.S4S|CLEC4M_uc010xjw.2_Silent_p.S4S|CLEC4M_uc010dvs.3_Silent_p.S4S|CLEC4M_uc010xjx.2_Silent_p.S4S|CLEC4M_uc002mhz.3_Silent_p.S4S|CLEC4M_uc002mic.3_Silent_p.S4S|CLEC4M_uc002mia.3_Silent_p.S4S	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	4					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TGAGTGACTCCAAGGAACCAA	0.547000														47			70		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9021059	9021059	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9021059C>T	uc002mkp.3	-	18	37468	c.37264G>A	c.(37264-37266)Ggt>Agt	p.G12422S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12424	SEA 3.				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						CTCACCAGACCCTGCAGGACC	0.547000														129			29		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11532847	11532847	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11532847G>A	uc002gne.3	+	6	1532	c.1464G>A	c.(1462-1464)gaG>gaA	p.E488E		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	488	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AATTTCAAGAGATGTACAGGC	0.557000														47			33		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123519851	123519851	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:123519851G>A	uc010nqy.3	-	28	5816	c.5752C>T	c.(5752-5754)Ctg>Ttg	p.L1918L	ODZ1_uc011muj.2_Silent_p.L1917L|ODZ1_uc004euj.3_Silent_p.L1911L	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1911					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						ACTGAGAGCAGACAATCTGGT	0.498000														18			24		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73434899	73434899	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73434899G>A	uc001jrx.4	+	13	1864	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	CDH23_uc001jry.3_Missense_Mutation_p.E492K|CDH23_uc001jrz.3_Missense_Mutation_p.E492K	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	494	Cadherin 5.				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						CACCTTTGGGGAAGTCAGCTA	0.572000														34			10		0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151115019	151115019	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151115019G>A	uc001ewv.3	-	2	415	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S	SEMA6C_uc001ewu.3_Missense_Mutation_p.P27S|SEMA6C_uc001eww.3_Missense_Mutation_p.P27S|SEMA6C_uc009wml.2_Intron	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	27						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGTCCTGGGGAAAGGCGGCC	0.607000														22			16		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072864	17072864	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17072864C>T	uc002zlp.1	-	0	837	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	193					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCGTCTAGTTCCTTGATAGCC	0.612000														72			27		0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241405670	241405670	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241405670T>A	uc002vyw.4	+	8	1861	c.1640T>A	c.(1639-1641)tTc>tAc	p.F547Y		NM_002081	NP_002072	P35052	GPC1_HUMAN	Homo sapiens glypican 1 (GPC1), mRNA.	547					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CTCCTCCTCTTCCTGGCCCTT	0.632000														59			5		0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126916055	126916055	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:126916055G>A	uc003eji.1	+	1	767	c.527G>A	c.(526-528)gGa>gAa	p.G176E						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCATCCAGAGGAGCTCCCTAC	0.647000														47			24		0	0	1	0	0
C9	735	broad.mit.edu	37	5	39331902	39331902	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:39331902C>T	uc003jlv.4	-	4	580	c.491G>A	c.(490-492)gGg>gAg	p.G164E		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	164	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		p.G164W(1)		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)			GGGATCCATCCCTAAAATGTT	0.458000														165			12		0	0	1	0	0
GPD1	2819	broad.mit.edu	37	12	50501529	50501529	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:50501529C>T	uc001rvz.3	+	5	825	c.792C>T	c.(790-792)acC>acT	p.T264T	GPD1_uc001rwa.3_Silent_p.T241T	NM_005276	NP_005267	P21695	GPDA_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA.	264					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	TGATCACTACCTGCTATGGAG	0.592000														171			17		0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53236939	53236939	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:53236939C>T	uc001cuj.3	+	2	639	c.444C>T	c.(442-444)ctC>ctT	p.L148L	ZYG11B_uc009vzg.3_Non-coding_Transcript|ZYG11B_uc010onj.2_Silent_p.L139L	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	148							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CATTAACTCTCTCCCTCGAGG	0.473000														78			10		0	0	1	0	0
METTL4	64863	broad.mit.edu	37	18	2566965	2566965	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:2566965C>T	uc002klh.4	-	1	1031	c.251G>A	c.(250-252)cGa>cAa	p.R84Q		NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	Homo sapiens methyltransferase like 4 (METTL4), mRNA.	84					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AACAAATTTTCGTGTGAACAT	0.393000														96			31		0	0	1	0	0
CD300LB	124599	broad.mit.edu	37	17	72522000	72522001	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72522000_72522001GT>AA	uc002jkx.2	-	1	380_381	c.367_368AC>TT	c.(367-369)acg>TTg	p.T123L	CD300LB_uc010wqz.1_Missense_Mutation_p.T123L	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA.	86						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CACAGTGAACGTGCGGTCTTTC	0.525000														134			65		0	0	1	0	0
NDUFV1	4723	broad.mit.edu	37	11	67379625	67379625	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67379625C>T	uc001omj.2	+	8	1350	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	NDUFV1_uc010rpv.1_Silent_p.F298F|NDUFV1_uc001omk.4_Silent_p.F390F|NDUFV1_uc001oml.2_Silent_p.F392F|NDUFV1_uc010rpw.1_Silent_p.F108F	NM_007103	NP_009034	P49821	NDUV1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	399					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	TGGCACGTTTCGTGAGGGGGG	0.622000														102			49		0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102269264	102269264	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:102269264G>A	uc001krc.1	-	3	310	c.208C>T	c.(208-210)Cac>Tac	p.H70Y	SEC31B_uc010qpo.1_Missense_Mutation_p.H70Y|SEC31B_uc001krd.1_Intron|SEC31B_uc001krf.1_Intron|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'Flank|SEC31B_uc010qpp.1_Missense_Mutation_p.H70Y|SEC31B_uc009xwn.1_Missense_Mutation_p.H70Y|SEC31B_uc009xwo.1_Missense_Mutation_p.H70Y|SEC31B_uc010qpq.1_Intron|SEC31B_uc010qpr.1_Intron	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	70					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACCAGCTTGTGAAACCTATAA	0.502000											OREG0020441	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			9		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42185719	42185719	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:42185719G>A	uc001uyj.3	-	38	4940	c.4870C>T	c.(4870-4872)Cag>Tag	p.Q1624*		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1624						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GACCTCTGCTGGAATGCTCTC	0.512000														109			31		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874347	36874348	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36874347_36874348GG>AA	uc003cgj.3	-	20	6842_6843	c.6594_6595CC>TT	c.(6592-6597)ttccct>ttTTct	p.P2199S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2199					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAGATTTTAGGGAATACTTTTT	0.401000														43			18		0	0	1	0	0
POLR1C	9533	broad.mit.edu	37	6	43484866	43484866	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43484866G>A	uc003ovn.3	+	0	90	c.19G>A	c.(19-21)Gtg>Atg	p.V7M	YIPF3_uc003ovl.2_5'Flank|YIPF3_uc011dvk.2_5'Flank|POLR1C_uc003ovo.2_Missense_Mutation_p.V7M	NM_203290	NP_976035	O15160	RPAC1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide C, 30kDa (POLR1C), mRNA.	7					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TTCTCAGGCGGTGGAGGAAAT	0.612000														98			30		0	0	1	0	0
SEH1L	81929	broad.mit.edu	37	18	12982560	12982560	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:12982560C>T	uc002krq.3	+	6	943	c.805C>T	c.(805-807)Cat>Tat	p.H269Y	SEH1L_uc002krr.3_Missense_Mutation_p.H269Y	NM_001013437	NP_001013455	Q96EE3	SEH1_HUMAN	Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA.	269					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GTTTGAAATCCATATAGTGGC	0.383000														114			11		0	0	1	0	0
TNFSF11	8600	broad.mit.edu	37	13	43181040	43181040	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:43181040C>T	uc001uyu.2	+	4	1089	c.940C>T	c.(940-942)Cga>Tga	p.R314*	TNFSF11_uc001uyt.2_Nonsense_Mutation_p.R241*	NM_003701	NP_143026	O14788	TNF11_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.	314					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell activation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of osteoclast differentiation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TTTTAAAGTTCGAGATATAGA	0.408000														74			31		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32636195	32636195	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:32636195C>T	uc001mtv.3	-	15	1713	c.1669G>A	c.(1669-1671)Gga>Aga	p.G557R		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	557										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ACATCTAATCCTCTGGTTCTT	0.294000														30			11		0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120363267	120363267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:120363267G>A	uc003edw.3	-	9	1133	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C	HGD_uc003edv.3_Missense_Mutation_p.R84C	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	225			R -> H (in AKU).		L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	p.P224S(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AAGAAATCACGAGGATTGGCC	0.443000														66			25		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78380231	78380231	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:78380231C>T	uc001ozl.4	-	31	7622	c.7159G>A	c.(7159-7161)Gag>Aag	p.E2387K	ODZ4_uc001ozk.4_Missense_Mutation_p.E612K	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2387					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						ATGTAGATCTCCCCATAGGCT	0.483000														32			4		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78853912	78853912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:78853912G>A	uc004akc.2	+	22	3442	c.2904G>A	c.(2902-2904)gaG>gaA	p.E968E		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	664					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.E968E(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ACCAGGGAGAGTGTGGAGATA	0.527000														12			8		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62676119	62676119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62676119C>T	uc021ooc.1	+	4	2108	c.1673C>T	c.(1672-1674)cCc>cTc	p.P558L	L1TD1_uc001dae.4_Missense_Mutation_p.P558L	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	558										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TTGGCCTCTCCCTCAAAGTCA	0.438000														70			29		0	0	1	0	0
HSF2BP	11077	broad.mit.edu	37	21	44949807	44949807	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:44949807G>A	uc002zdi.3	-	8	1164	c.832C>T	c.(832-834)Ctt>Ttt	p.L278F	HSF2BP_uc011aey.2_Missense_Mutation_p.L203F	NM_007031	NP_008962	O75031	HSF2B_HUMAN	Homo sapiens heat shock transcription factor 2 binding protein (HSF2BP), mRNA.	278					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GACTGGACAAGCCTCAGTACA	0.458000														49			24		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89999523	89999523	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89999523C>T	uc003kju.3	+	34	8293	c.8197C>T	c.(8197-8199)Cga>Tga	p.R2733*	GPR98_uc003kjt.3_Nonsense_Mutation_p.R439*|GPR98_uc003kjv.3_Nonsense_Mutation_p.R333*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2733					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTCCCTGGTCGAGGAAATGT	0.318000														21			9		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103143635	103143635	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:103143635G>A	uc022ajr.1	-	51	8477	c.8317C>T	c.(8317-8319)Caa>Taa	p.Q2773*	RELN_uc022ajq.1_Nonsense_Mutation_p.Q2773*|RELN_uc010liz.3_Nonsense_Mutation_p.Q2773*	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2773					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)		ACATGAATTTGATTCTGGGCA	0.383000														91			9		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55684615	55684615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55684615C>T	uc003pcq.3	-	1	1233	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	BMP5_uc011dxf.2_Missense_Mutation_p.R174Q	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	174					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTAATGCCTTCGCTGGTGAGA	0.378000														63			22		0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462037	5462037	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5462037C>T	uc010qze.2	-	0	747	c.708G>A	c.(706-708)cgG>cgA	p.R236R	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCCTTGAGCCGCTGTTCCT	0.478000														32			13		0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563993	8563993	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8563993G>A	uc002mkd.3	-	1	762	c.699C>T	c.(697-699)gtC>gtT	p.V233V		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	281	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GGAGGCCACCGACCTGAGGCT	0.632000														32			13		0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52884373	52884373	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52884373C>T	uc001sam.3	-	4	1266	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	353	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TACCAGGACTCAGCCTCAGCC	0.577000														174			91		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179407830	179407830	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179407830C>T	uc021vsy.1	-	295	89391	c.89166G>A	c.(89164-89166)gaG>gaA	p.E29722E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.E23417E|TTN_uc021vta.1_Silent_p.E23350E|TTN_uc021vtb.1_Silent_p.E23225E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30649	Fibronectin type-III 116.						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)			CTGTGACAGTCTCTCTTGGTT	0.368000														207			95		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13397765	13397765	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:13397765G>T	uc002mwy.3	-	19	3341	c.3105C>A	c.(3103-3105)tcC>tcA	p.S1035S	CACNA1A_uc010dzc.2_Silent_p.S561S|CACNA1A_uc010xnd.2_Silent_p.S1038S|CACNA1A_uc021ups.1_Silent_p.S1035S|CACNA1A_uc010xne.2_Silent_p.S1038S|CACNA1A_uc010dze.2_Silent_p.S1035S|CACNA1A_uc021upt.1_Silent_p.S1036S	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1036					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CAGGGACCCCGGAGCCCTGGT	0.537000														16			18		2.94398e-08	2.95262e-08	1	1	0
RPH3A	22895	broad.mit.edu	37	12	113285537	113285537	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113285537G>A	uc010syl.2	+	4	482	c.120G>A	c.(118-120)caG>caA	p.Q40Q	RPH3A_uc001ttz.3_Silent_p.Q40Q|RPH3A_uc001tty.3_Silent_p.Q36Q|RPH3A_uc009zwe.1_Silent_p.Q36Q|RPH3A_uc010sym.2_Intron	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	40					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCGGTGGTCAGCCTGACAGGC	0.532000														78			39		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112648	148112648	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:148112648G>A	uc003weu.2	+	23	4452	c.3936G>A	c.(3934-3936)atG>atA	p.M1312I	CNTNAP2_uc003wev.2_Missense_Mutation_p.M89I	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1312					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCGCCATCATGAACAACGACC	0.542000										HNSCC(39;0.1)				81			14		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137623485	137623485	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:137623485G>A	uc004cfe.3	+	7	1690	c.1308G>A	c.(1306-1308)gcG>gcA	p.A436A		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	436	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.A436A(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAATGCCGGCGAACCAGGATA	0.637000														97			14		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10089654	10089654	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10089654C>T	uc002mmq.1	-	39	2963	c.2877G>A	c.(2875-2877)ggG>ggA	p.G959G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	959	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)			GTCCCAGTTCCCCCTACAGGA	0.622000														16			3		0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24918476	24918476	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:24918476G>A	uc002dmu.3	+	11	1476	c.1245G>A	c.(1243-1245)aaG>aaA	p.K415K	SLC5A11_uc002dms.3_Silent_p.K351K|SLC5A11_uc010vcd.2_Silent_p.K380K|SLC5A11_uc002dmt.3_Silent_p.K259K|SLC5A11_uc010vce.2_Silent_p.K345K|SLC5A11_uc010bxt.3_Silent_p.K351K|SLC5A11_uc002dmv.3_Silent_p.K38K	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	415					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CATCTGAGAAGGAGCTCATGA	0.602000														125			25		0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52472065	52472066	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52472065_52472066GG>AA	uc003dea.1	-	13	1659_1660	c.1659_1660CC>TT	c.(1657-1662)agcctt>agTTtt	p.L554F		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	554					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CGCTTGCCAAGGCTGGGGCGGT	0.668000														32			9		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153661465	153661466	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153661465_153661466CC>TT	uc001fcs.4	+	15	2875_2876	c.2454_2455CC>TT	c.(2452-2457)tcccgc>tcTTgc	p.R819C	NPR1_uc010pdz.2_Missense_Mutation_p.R565C|NPR1_uc010pea.2_Missense_Mutation_p.R297C	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	819					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ACCTGCTGTCCCGCATGGAGCA	0.629000														154			39		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136562369	136562369	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136562369C>T	uc002tuu.1	-	9	4443	c.4432G>A	c.(4432-4434)Gat>Aat	p.D1478N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1478	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCAGTGTATCGATGAGCCTC	0.587000														34			13		0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65145865	65145865	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:65145865C>T	uc003hcv.3	-	11	1126	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	TECRL_uc010ihi.3_Non-coding_Transcript	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	339					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCTTATGTTTCTTTTGTGCCC	0.254000														37			13		0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107380208	107380208	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107380208G>A	uc011lvr.2	-	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						GCCAGAAAAGGAAATGGTCTT	0.502000														120			32		0	0	1	0	0
RPUSD3	285367	broad.mit.edu	37	3	9882454	9882454	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:9882454G>A	uc011atk.2	-	4	447	c.443C>T	c.(442-444)cCc>cTc	p.P148L	TTLL3_uc003btc.2_Intron|RPUSD3_uc011atl.2_Missense_Mutation_p.P133L|RPUSD3_uc011atm.1_Missense_Mutation_p.P140L|RPUSD3_uc003btn.2_3'UTR	NM_173659	NP_775930	Q6P087	RUSD3_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 3 (RPUSD3), transcript variant 1, mRNA.	148					pseudouridine synthesis		RNA binding|pseudouridine synthase activity			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					AGCTGTCTGGGGACAGCTGGA	0.527000														30			8		0	0	1	0	0
BZW2	28969	broad.mit.edu	37	7	16714053	16714053	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:16714053C>T	uc003stj.2	+	2	237	c.75C>T	c.(73-75)ttC>ttT	p.F25F	BZW2_uc011jxx.1_5'UTR|BZW2_uc003stl.2_Silent_p.F25F|BZW2_uc003stm.2_5'UTR|BZW2_uc003stn.1_Silent_p.F25F|BZW2_uc003sto.1_5'UTR	NM_014038	NP_054757	Q9Y6E2	BZW2_HUMAN	Homo sapiens basic leucine zipper and W2 domains 2 (BZW2), transcript variant 2, mRNA.	25					RNA metabolic process|cell differentiation|nervous system development		protein binding	p.F25F(2)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AAGAGAAATTCGAACCCACAG	0.333000														102			37		0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29735010	29735010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:29735010G>A	uc003afj.3	-	15	2319	c.2132C>T	c.(2131-2133)aCc>aTc	p.T711I	AP1B1_uc003afl.3_Missense_Mutation_p.T704I|AP1B1_uc003afi.3_Missense_Mutation_p.T704I|AP1B1_uc011ako.2_Missense_Mutation_p.T264I	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	711	Pro-rich (stalk region).				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCCTGACAGGGTGCCCACGCC	0.557000														145			64		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170549	207170549	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:207170549G>A	uc002vbp.2	+	4	1547	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	433							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTTTCCAAGGAAGTACGTAC	0.353000														66			29		0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26514727	26514727	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26514727G>A	uc001bln.4	+	16	1536	c.1478G>A	c.(1477-1479)tGg>tAg	p.W493*	CNKSR1_uc001blm.4_Nonsense_Mutation_p.W486*|CNKSR1_uc009vsd.3_Nonsense_Mutation_p.W228*|CNKSR1_uc009vse.3_Nonsense_Mutation_p.W228*|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.	493	PH.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	p.W486*(1)		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)		CTCCATAGGTGGGTGCGTCAT	0.572000														34			24		0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1421334	1421334	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:1421334G>A	uc009xhq.3	-	1	448	c.122C>T	c.(121-123)aCc>aTc	p.T41I		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	41					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)		AGCGAGGAAGGTTGACAATAT	0.433000														49			20		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2138110	2138110	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2138110C>T	uc002con.3	+	39	5236	c.5130C>T	c.(5128-5130)ttC>ttT	p.F1710F	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.F1687F|TSC2_uc002coo.3_Silent_p.F1643F|TSC2_uc010uvv.2_Silent_p.F1607F|TSC2_uc010uvw.2_Silent_p.F1595F|TSC2_uc002cop.3_Silent_p.F1466F|TSC2_uc002coq.3_Silent_p.F485F	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1710	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ACCTGCCCTTCGTGGCCCGCC	0.652000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					96			18		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57406576	57406576	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57406576C>T	uc001cyp.3	-	8	1411	c.1344G>A	c.(1342-1344)ctG>ctA	p.L448L	C8B_uc010oon.2_Silent_p.L386L|C8B_uc010ooo.2_Silent_p.L396L	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	448	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACTCCTGCATCAGGTCCGCCG	0.572000														71			22		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959797	157959797	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:157959797G>A	uc003wno.3	-	5	857	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	PTPRN2_uc003wnp.3_Missense_Mutation_p.L229F|PTPRN2_uc003wnq.3_Missense_Mutation_p.L246F|PTPRN2_uc003wnr.3_Missense_Mutation_p.L208F|PTPRN2_uc011kwa.2_Missense_Mutation_p.L269F	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	246						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TAGGCACTGAGGGCCGCCATC	0.667000														29			5		0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169533045	169533045	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:169533045G>A	uc003mai.4	+	0	129	c.84G>A	c.(82-84)atG>atA	p.M28I	FOXI1_uc003maj.4_Missense_Mutation_p.M28I	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	28	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA 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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCCGAGATGAACCTCTACT	0.697000									Pendred syndrome					45			16		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105167206	105167206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:105167206G>A	uc004emd.3	+	17	3010	c.2707G>A	c.(2707-2709)Gat>Aat	p.D903N	NRK_uc010npc.1_Missense_Mutation_p.D571N	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	903							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTTCCGGAATGATTGGTTAAC	0.428000										HNSCC(51;0.14)				24			24		0	0	1	0	0
WAS	7454	broad.mit.edu	37	X	48542353	48542353	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:48542353G>A	uc004dkm.4	+	0	168	c.111G>A	c.(109-111)gaG>gaA	p.E37E		NM_000377	NP_000368	P42768	WASP_HUMAN	Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.	37					T cell receptor signaling pathway|blood coagulation|defense response|epidermis development|immune response	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	p.F36Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				GACTCTTTGAGATGCTTGGAC	0.622000			"""Mis, N, F, S"""			lymphoma								26			38		0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43299342	43299342	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43299342G>A	uc001zqq.3	-	29	3416	c.3350C>T	c.(3349-3351)tCg>tTg	p.S1117L		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1117					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GACACAGGCCGATAATACCAT	0.423000														120			40		0	0	1	0	0
CMTM5	116173	broad.mit.edu	37	14	23846556	23846557	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23846556_23846557CC>TT	uc010akm.3	+	0	540_541	c.96_97CC>TT	c.(94-99)tcccac>tcTTac	p.H33Y	CMTM5_uc010akn.3_Missense_Mutation_p.H33Y|CMTM5_uc001wju.3_Missense_Mutation_p.H33Y|CMTM5_uc010ako.3_Non-coding_Transcript|CMTM5_uc001wjs.3_Missense_Mutation_p.H33Y|CMTM5_uc001wjt.3_Missense_Mutation_p.H33Y	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 5 (CMTM5), transcript variant 1, mRNA.	33	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		TCCTCACCTCCCACAAGGGCAT	0.649000														67			17		0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62855787	62855787	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62855787G>A	uc002jey.2	-	10	5093	c.4477C>T	c.(4477-4479)Ctc>Ttc	p.L1493F	LRRC37A3_uc010wqg.1_Missense_Mutation_p.L611F|LRRC37A3_uc002jex.1_Missense_Mutation_p.L470F|LRRC37A3_uc010wqf.1_Missense_Mutation_p.L531F|LRRC37A3_uc010dek.1_Missense_Mutation_p.L499F|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1493						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGAGCAATGAGCCTTCTCACA	0.517000														366			103		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060798	111060798	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111060798G>A	uc001dzt.1	-	0	1000	c.612C>T	c.(610-612)ctC>ctT	p.L204L		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	204						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		ACTCAAAGAGGAGCCAGAACT	0.557000														56			20		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141894	29141894	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29141894C>T	uc011dlm.2	+	0	584	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H160D(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GCACTTCATTCCTCCTTTACT	0.463000														203			92		0	0	1	0	0
NDUFS3	4722	broad.mit.edu	37	11	47605951	47605951	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:47605951C>T	uc001nga.2	+	6	795	c.713C>T	c.(712-714)cCc>cTc	p.P238L	NDUFS3_uc001nft.3_Missense_Mutation_p.P217L|FAM180B_uc001ngb.2_5'Flank	NM_004551	NP_004542	O75489	NDUS3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) (NDUFS3), nuclear gene encoding mitochondrial protein, mRNA.	238					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|electron carrier activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	CTGAACAGCCCCTGGGAGGCT	0.557000														113			47		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574438	28574438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:28574438C>T	uc003xgz.1	+	2	1455	c.862C>T	c.(862-864)Ctc>Ttc	p.L288F		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	288						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		ACAGAACCTTCTCTATAACGT	0.522000														43			8		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179414114	179414114	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179414114G>A	uc001gmo.3	+	15	1960	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	AXDND1_uc001gmn.2_Missense_Mutation_p.E313K|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Missense_Mutation_p.E483K	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	525										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GATCCTGAATGAGAAAAAAGA	0.383000														81			27		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671462	39671462	+	Silent	SNP	G	A	A	rs145343844		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:39671462G>A	uc021wjc.1	+	0	279	c.279G>A	c.(277-279)ggG>ggA	p.G93G	KCNJ15_uc002ywv.3_Silent_p.G93G|KCNJ15_uc002yww.3_Silent_p.G93G|KCNJ15_uc002ywx.3_Silent_p.G93G	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	93					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TTATTCATGGGGACTTAGAAC	0.478000														106			49		0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349316	36349316	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36349316C>T	uc002ocb.4	+	2	430	c.218C>T	c.(217-219)tCc>tTc	p.S73F	KIRREL2_uc002obz.4_Missense_Mutation_p.S73F|KIRREL2_uc002oca.4_Missense_Mutation_p.S23F|KIRREL2_uc002ocd.4_Missense_Mutation_p.S70F	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	73	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGGTGGTCCCGGTACTGG	0.557000														56			25		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188904	32188904	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32188904G>A	uc003obb.3	-	3	789	c.650C>T	c.(649-651)tCc>tTc	p.S217F	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.S217F	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	217	EGF-like 5; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCACTGGAAGGAGCCCAGGGT	0.657000														31			22		0	0	1	0	0
B3GALT4	8705	broad.mit.edu	37	6	33246057	33246057	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33246057C>T	uc003odr.3	+	0	1141	c.861C>T	c.(859-861)ctC>ctT	p.L287L		NM_003782	NP_003773	O96024	B3GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 (B3GALT4), mRNA.	287					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|ganglioside galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CACCCCTTCTCCCATTAGAGG	0.627000														57			25		0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27321123	27321123	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:27321123G>A	uc010lur.3	-	5	1446	c.837C>T	c.(835-837)atC>atT	p.I279I	CHRNA2_uc011lal.2_Silent_p.I264I|CHRNA2_uc010lus.3_Silent_p.I81I	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	279			I -> N (in ENFL4; markedly increases receptor sensitivity to acetylcholine).			cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	TGAGGCAGGAGATGAGCAGGC	0.607000														44			16		0	0	1	0	0
KCND1	3750	broad.mit.edu	37	X	48826306	48826306	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:48826306G>A	uc004dlx.1	-	0	1946	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	125						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						ACTAGCTCGGGAACCAGGCCG	0.622000														8			12		0	0	1	0	0
CDK8	1024	broad.mit.edu	37	13	26974631	26974631	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:26974631C>T	uc001uqr.1	+	9	998	c.975C>T	c.(973-975)acC>acT	p.T325T	CDK8_uc001uqs.1_Silent_p.T325T|CDK8_uc001uqt.1_Silent_p.T152T	NM_001260	NP_001251	P49336	CDK8_HUMAN	Homo sapiens cyclin-dependent kinase 8 (CDK8), mRNA.	325	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AGCGAATTACCTCAGAACAGG	0.423000														204			17		0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33695869	33695869	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33695869C>T	uc010jvf.2	-	3	944	c.408G>A	c.(406-408)aaG>aaA	p.K136K	IP6K3_uc003ofb.2_Silent_p.K136K	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	136					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						CTCACCTCTCCTTGGGTGAGC	0.652000														27			11		0	0	1	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39388084	39388084	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:39388084C>T	uc003awo.1	+	6	1118	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	APOBEC3B_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.P330L|APOBEC3B_uc003awq.1_Non-coding_Transcript	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B (APOBEC3B), mRNA.	355					negative regulation of transposition		RNA binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CAGGGATGTCCCTTCCAGCCC	0.617000														41			17		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997368	115997368	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:115997368C>T	uc003ibu.3	-	1	1504	c.825G>A	c.(823-825)ttG>ttA	p.L275L	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	275	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GCCAAAAGTTCAAGTTGTTGC	0.453000														148			56		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3256994	3256994	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:3256994G>A	uc022aqr.1	-	15	2714	c.2324C>T	c.(2323-2325)cCa>cTa	p.P775L	CSMD1_uc011kwj.2_Missense_Mutation_p.P168L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	776	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATAATATCCTGGCCATCCAGG	0.388000														52			19		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187685	57187685	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:57187685G>A	uc010kzo.3	-	4	1708	c.1437C>T	c.(1435-1437)acC>acT	p.T479T		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T479N(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTTGCATAAGGGTTGAGGAGC	0.403000														101			11		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105174832	105174832	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105174832C>T	uc001kwy.1	+	11	1529	c.1442C>T	c.(1441-1443)cCt>cTt	p.P481L		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	481	S1 motif 5.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGCCTGGTACCTCCCATGCAC	0.537000														44			22		0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120005392	120005392	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:120005392G>A	uc002tlp.3	+	3	787	c.630G>A	c.(628-630)ccG>ccA	p.P210P	STEAP3_uc002tlq.3_Silent_p.P220P|STEAP3_uc002tlr.3_Silent_p.P210P|STEAP3_uc010fle.3_Silent_p.P210P	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	210					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	p.P210P(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCCTCCTCCCGGCCTGGAAGG	0.657000														53			16		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14022123	14022123	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:14022123C>T	uc003wwq.3	-	4	1173	c.513G>A	c.(511-513)gaG>gaA	p.E171E	SGCZ_uc010lss.3_Silent_p.E124E	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	158					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CAATGGTAATCTCATCTTCAT	0.423000														74			12		0	0	1	0	0
SSBP2	23635	broad.mit.edu	37	5	80769541	80769541	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:80769541C>T	uc003khp.3	-	7	759	c.548G>A	c.(547-549)gGa>gAa	p.G183E	SSBP2_uc003khn.3_Missense_Mutation_p.G57E|SSBP2_uc011ctr.2_Missense_Mutation_p.G153E|SSBP2_uc003kho.3_Missense_Mutation_p.G183E|SSBP2_uc011ctp.2_Missense_Mutation_p.G163E|SSBP2_uc011ctq.2_Missense_Mutation_p.G153E	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	183	Gly-rich.|Pro-rich.			MTPPRGMVPLGP -> NDSSKRNGCLRTTVLTPGLSL (in Ref. 2; AAD27781).	regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		GGGCACCATTCCTCTTGGAGG	0.403000														45			19		0	0	1	0	0
CXCL5	6374	broad.mit.edu	37	4	74863807	74863807	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:74863807G>A	uc003hhk.3	-	2	366	c.248C>T	c.(247-249)tCc>tTc	p.S83F		NM_002994	NP_002985	P42830	CXCL5_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 5 (CXCL5), mRNA.	83					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GTTCTTCAGGGAGGCTCTGAA	0.453000														93			29		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815653	158815653	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158815653G>A	uc001fsz.1	+	4	1047	c.847G>A	c.(847-849)Gca>Aca	p.A283T		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	283	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AATAAAGGAAGCATCATCTGT	0.343000														65			30		0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155486959	155486959	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155486959G>A	uc003ioa.4	+	2	154	c.115_splice	c.e2-1	p.G39_splice	FGB_uc010ipu.1_Non-coding_Transcript|FGB_uc010ipv.3_Splice_Site_p.G39_splice	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	39			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ATTCCTTGTAGGGTTTCTTCA	0.463000														29			12		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241987827	241987827	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241987827G>A	uc002wah.1	+	8	1369	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	457	EGF-like 5.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGAGTGCCCCGAAGGCTTCAT	0.667000														20			4		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723158	58723158	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58723158G>A	uc001nnh.2	+	6	710	c.660G>A	c.(658-660)ggG>ggA	p.G220G	GLYATL1_uc001nnf.3_Silent_p.G189G|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Silent_p.G189G|GLYATL1_uc001nnj.2_Silent_p.G189G	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	189						mitochondrion	glycine N-acyltransferase activity	p.R219Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GGAAGCGAGGGAAGAATGAGA	0.498000														72			16		0	0	1	0	0
SLC18A1	6570	broad.mit.edu	37	8	20035989	20035989	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:20035989G>A	uc011kyq.2	-	4	975	c.504C>T	c.(502-504)atC>atT	p.I168I	SLC18A1_uc003wzm.3_Silent_p.I168I|SLC18A1_uc011kyr.2_Silent_p.I168I|SLC18A1_uc003wzn.3_Silent_p.I168I|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	168					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CAAACATGGGGATATGATATC	0.348000														20			6		0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42122113	42122113	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:42122113C>T	uc003gwn.3	-	4	1925	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	BEND4_uc003gwm.3_Intron|BEND4_uc011byy.1_Missense_Mutation_p.E449K	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	449	BEN.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GGGCGTCTTTCGGGACCTGTC	0.498000														22			11		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50367257	50367257	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:50367257G>A	uc003tow.4	+	2	219	c.64G>A	c.(64-66)Gat>Aat	p.D22N	IKZF1_uc022acq.1_Missense_Mutation_p.D22N|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Missense_Mutation_p.D22N|IKZF1_uc022acu.1_Missense_Mutation_p.D22N|IKZF1_uc003tox.4_Missense_Mutation_p.D22N|IKZF1_uc022acv.1_Missense_Mutation_p.D22N|IKZF1_uc022acw.1_Missense_Mutation_p.D22N|IKZF1_uc022acx.1_Missense_Mutation_p.D22N|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Missense_Mutation_p.D22N|IKZF1_uc003toy.4_Missense_Mutation_p.D22N|IKZF1_uc003toz.4_5'UTR|IKZF1_uc010kyx.3_5'UTR|IKZF1_uc003tov.1_Missense_Mutation_p.D22N	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	22					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(33)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCCTGTAAGCGATACTCCAGA	0.587000			"""D,T"""	BCL6	"""ALL, DLBCL"""									18			7		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408205	29408205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29408205G>A	uc011dlp.2	+	0	490	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	138			R -> W (in dbSNP:rs17177646).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGAGCCACCGGGTGTGTCTA	0.637000														51			23		0	0	1	0	0
PF4	5196	broad.mit.edu	37	4	74846987	74846987	+	Silent	SNP	C	T	T	rs4694		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:74846987C>T	uc003hhi.2	-	2	285	c.240G>A	c.(238-240)agG>agA	p.R80R		NM_002619	NP_002610	P02776	PLF4_HUMAN	Homo sapiens platelet factor 4 (PF4), mRNA.	80					cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of MHC class II biosynthetic process|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	AGCAAATTTTCCTTCCATTCT	0.458000														55			20		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66905896	66905896	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:66905896G>A	uc004dwu.2	+	2	2928	c.1813G>A	c.(1813-1815)Gat>Aat	p.D605N	AR_uc011mpd.2_Missense_Mutation_p.D605N|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Missense_Mutation_p.D605N|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_Missense_Mutation_p.D605N|AR_uc004dwv.2_Missense_Mutation_p.D73N	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	604	Interaction with HIPK3 (By similarity).				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TTGCACTATTGATAAATTCCG	0.413000									Androgen Insensitivity Syndrome					16			29		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167659342	167659342	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167659342G>A	uc001gem.3	+	3	442	c.255G>A	c.(253-255)ctG>ctA	p.L85L	RCSD1_uc010pli.2_Silent_p.L55L	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	85								p.L85L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GCTCGCCTCTGATTGAGAAGC	0.423000														81			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179539769	179539769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179539769C>T	uc021vsy.1	-	144	30931	c.30706G>A	c.(30706-30708)Gaa>Aaa	p.E10236K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6897K|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11163	Glu-rich.|Pro-rich.						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)			TATCTACCTTCAACTGGTAGA	0.333000														27			12		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39613254	39613254	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39613254G>A	uc003xnj.3	-	15	1865	c.1790C>T	c.(1789-1791)tCa>tTa	p.S597L	ADAM2_uc003xnk.3_Missense_Mutation_p.S578L|ADAM2_uc011lck.2_Intron|ADAM2_uc003xnl.3_Missense_Mutation_p.S441L	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	597	Cys-rich.				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)		TACCTTATTTGAACCACAAGA	0.398000														28			12		0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44797655	44797655	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44797655C>T	uc003tlr.3	+	5	884	c.761C>T	c.(760-762)cCt>cTt	p.P254L	ZMIZ2_uc003tlq.3_Missense_Mutation_p.P222L|ZMIZ2_uc003tls.3_Missense_Mutation_p.P254L|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	254	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TATCCTGGGCCTCCCCAGGCC	0.632000														95			36		0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219679167	219679167	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219679167C>T	uc002viz.4	+	6	1683	c.1249C>T	c.(1249-1251)Ctc>Ttc	p.L417F		NM_000784	NP_000775	Q02318	CP27A_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily A, polypeptide 1 (CYP27A1), nuclear gene encoding mitochondrial protein, mRNA.	417					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TGATGGCTTCCTCTTCCCCAA	0.522000														94			40		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18524140	18524140	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:18524140C>T	uc001rdt.3	+	11	1768	c.1652C>T	c.(1651-1653)tCa>tTa	p.S551L	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.S592L|PIK3C2G_uc010sic.2_Missense_Mutation_p.S370L	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	551					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GAAATAAAGTCACTTCCAAGG	0.368000														18			8		0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	101031041	101031041	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:101031041G>A	uc002bwa.3	-	5	873	c.302C>T	c.(301-303)tCc>tTc	p.S101F	CERS3_uc002bvz.3_Missense_Mutation_p.S90F|CERS3_uc002bwb.3_Missense_Mutation_p.S90F	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	90						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TTGCCTTGTGGAATGTTTGAA	0.338000														65			13		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20582410	20582410	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:20582410C>T	uc002wrz.3	-	15	2262	c.2119G>A	c.(2119-2121)Gaa>Aaa	p.E707K	RALGAPA2_uc002wry.3_Missense_Mutation_p.E322K|RALGAPA2_uc010zsg.2_Missense_Mutation_p.E108K	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	707					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CGCATCGGTTCGGTCACATCT	0.478000														47			17		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39149936	39149936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:39149936G>A	uc004abi.3	-	9	1755	c.1516C>T	c.(1516-1518)Ccc>Tcc	p.P506S	CNTNAP3_uc004abj.3_Missense_Mutation_p.P506S|CNTNAP3_uc011lqr.2_Intron|CNTNAP3_uc004abk.1_Missense_Mutation_p.P506S|CNTNAP3_uc011lqs.1_Intron	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	506	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCTCCCAGGGGGCTTTTACAT	0.493000														48			15		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552609	1552609	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:1552609C>T	uc010gai.3	-	2	607	c.508G>A	c.(508-510)Gag>Aag	p.E170K	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	170	Ig-like C1-type 1.				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						CCATGGGACTCGCAGGTGAAG	0.567000														112			34		0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63085637	63085637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:63085637C>T	uc002sby.3	+	7	1213	c.731C>T	c.(730-732)tCc>tTc	p.S244F	EHBP1_uc010fcp.3_Intron|EHBP1_uc002sbx.2_Intron|EHBP1_uc002sbz.3_Intron|EHBP1_uc002scb.3_Intron	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	244						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCAGCCAGTTCCTCTGAAGGT	0.408000														56			12		0	0	1	0	0
C17orf57	124989	broad.mit.edu	37	17	45412651	45412651	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:45412651C>T	uc002iln.3	+	4	551	c.120C>T	c.(118-120)atC>atT	p.I40I	ITGB3_uc010wkr.1_Non-coding_Transcript|C17orf57_uc002ilm.3_Silent_p.I40I|C17orf57_uc002ill.1_5'UTR|C17orf57_uc010daz.1_Silent_p.I40I	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	40							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						AGAAATACATCAAGTTTTCTA	0.318000														67			45		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132445295	132445295	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:132445295C>T	uc001ujn.3	+	1	283	c.131C>T	c.(130-132)cCc>cTc	p.P44L	EP400_uc021rgq.1_Missense_Mutation_p.P44L|EP400_uc001ujm.3_Missense_Mutation_p.P44L|EP400_uc001ujj.2_Missense_Mutation_p.P44L|EP400_uc001ujk.3_Missense_Mutation_p.P44L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	44					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCTTCGCTCCCTCAGCAAGC	0.652000														30			24		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345226	33345226	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33345226G>A	uc002xav.3	-	7	3896	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F	NCOA6_uc002xaw.3_Missense_Mutation_p.S442F|NCOA6_uc021wcd.1_Missense_Mutation_p.S442F|NCOA6_uc021wce.1_Missense_Mutation_p.S442F|NCOA6_uc021wcf.1_Missense_Mutation_p.S442F|NCOA6_uc010gew.1_Missense_Mutation_p.S399F	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	442	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CGTTGGGGAGGATGCAGGGGA	0.602000														79			31		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80045076	80045076	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:80045076G>A	uc002kdu.3	-	20	3394	c.3277C>T	c.(3277-3279)Cac>Tac	p.H1093Y	FASN_uc002kdw.1_Missense_Mutation_p.H309Y	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1093					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCGGAGATGTGGACGCCTCCG	0.667000														17			4		0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973335	29973335	+	Nonsense_Mutation	SNP	C	T	T	rs144365564	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:29973335C>T	uc004dby.2	+	10	1997	c.1489C>T	c.(1489-1491)Cga>Tga	p.R497*		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	497	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AACCAGACTTCGAAATATGCT	0.443000														43			38		0	0	1	0	0
WDR45L	56270	broad.mit.edu	37	17	80579640	80579641	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:80579640_80579641GG>AA	uc002kfq.3	-	5	657_658	c.462_463CC>TT	c.(460-465)tccctc>tcTTtc	p.L155F	WDR45L_uc002kfr.3_Non-coding_Transcript	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	Homo sapiens WDR45-like (WDR45L), mRNA.	155					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	12	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)			AAGGCCAGGAGGGAGTTGTTAC	0.569000														35			11		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196646781	196646781	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:196646781G>A	uc001gtj.4	+	4	843	c.603G>A	c.(601-603)gaG>gaA	p.E201E	CFH_uc001gti.4_Silent_p.E201E|CFH_uc009wyw.3_Silent_p.E201E|CFH_uc009wyx.3_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	201	Sushi 3.				complement activation, alternative pathway	extracellular space		p.E201K(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGAGTAAAGAGAAACCAAAGT	0.328000														144			30		0	0	1	0	0
MYEOV	26579	broad.mit.edu	37	11	69063588	69063588	+	Missense_Mutation	SNP	C	T	T	rs138762742	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:69063588C>T	uc001oov.3	+	2	1121	c.671C>T	c.(670-672)tCg>tTg	p.S224L	MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Missense_Mutation_p.S224L|MYEOV_uc001oow.3_Missense_Mutation_p.S166L	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA.	224										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		CTGGCAGAATCGAGCTGCCCT	0.637000														47			31		0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31475943	31475943	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31475943C>T	uc010vfn.2	+	5	2008	c.1884C>T	c.(1882-1884)tcC>tcT	p.S628S	ARMC5_uc010vfo.2_Silent_p.S565S|ARMC5_uc002ecc.3_Silent_p.S533S|ARMC5_uc002eca.4_Silent_p.S533S|ARMC5_uc002ecb.2_Silent_p.S533S|ARMC5_uc010vfp.2_Silent_p.S341S	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	533							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGCGCTTTTCCCAGGCCCCTG	0.731000														11			8		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139151280	139151280	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:139151280C>T	uc003yuy.3	-	17	4021	c.3850G>A	c.(3850-3852)Gat>Aat	p.D1284N	FAM135B_uc003yux.3_Missense_Mutation_p.D1185N|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1284										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)			TCAGCATTATCCCTGAAGGTC	0.423000										HNSCC(54;0.14)				72			27		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233270846	233270846	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233270846G>A	uc001hvl.2	-	20	3985	c.3750C>T	c.(3748-3750)ttC>ttT	p.F1250F	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.	1250						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)				AGATGACAGTGAAGCTCAAGT	0.393000														58			32		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20491956	20491956	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20491956G>A	uc010bwe.3	+	11	1582	c.1343G>A	c.(1342-1344)gGa>gAa	p.G448E	ACSM2A_uc010vax.1_Missense_Mutation_p.G369E|ACSM2A_uc002dhf.4_Missense_Mutation_p.G448E|ACSM2A_uc002dhg.4_Missense_Mutation_p.G448E|ACSM2A_uc010vay.2_Missense_Mutation_p.G369E|ACSM2A_uc002dhh.4_Missense_Mutation_p.G78E	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	448					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.R447R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGAGACCGGGGAATCAAAGAT	0.488000														88			10		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226608	23226608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23226608G>A	uc002dlm.1	+	12	1907	c.1768G>A	c.(1768-1770)Ggc>Agc	p.G590S		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	590					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TAGCCCACAGGGCCAGGACAA	0.597000														105			35		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102071146	102071146	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:102071146A>T	uc001tii.3	+	25	3202	c.3062A>T	c.(3061-3063)aAa>aTa	p.K1021I	MYBPC1_uc001tig.3_Missense_Mutation_p.K1028I|MYBPC1_uc010svr.2_Missense_Mutation_p.K1003I|MYBPC1_uc010svs.2_Missense_Mutation_p.K1021I|MYBPC1_uc001tij.3_Missense_Mutation_p.K1003I|MYBPC1_uc010svt.2_Missense_Mutation_p.K991I|MYBPC1_uc010svu.2_Missense_Mutation_p.K984I|MYBPC1_uc001tik.3_Missense_Mutation_p.K977I|MYBPC1_uc001tih.3_Missense_Mutation_p.K1028I|MYBPC1_uc010svq.2_Missense_Mutation_p.K990I|MYBPC1_uc001til.3_Missense_Mutation_p.K46I	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	1021	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACCATGACTAAAGAGAGTGCA	0.458000														30			14		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7287995	7287996	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7287995_7287996GG>AA	uc001qss.3	+	2	1030_1031	c.492_493GG>AA	c.(490-495)gcggct>gcAAct	p.A165T	CLSTN3_uc001qsr.3_Missense_Mutation_p.A153T	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	153	Cadherin 2.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGTATCGTGCGGCTGTGACAGA	0.564000														56			25		0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232393203	232393203	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:232393203G>A	uc002vry.4	-	1	639	c.529C>T	c.(529-531)Cat>Tat	p.H177Y		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	177					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGGCGCACATGGGCCCGCGTC	0.682000														45			21		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440305	40440305	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:40440305C>T	uc003gvc.2	-	3	1316	c.606G>A	c.(604-606)gaG>gaA	p.E202E	RBM47_uc003gvd.2_Silent_p.E202E|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.E164E|RBM47_uc003gvg.1_Silent_p.E202E	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	202	RRM 2.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGCGGTGGCTCTCGTACTCCA	0.662000														64			17		0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19253875	19253875	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:19253875G>A	uc001mpm.3	-	6	1494	c.972C>T	c.(970-972)agC>agT	p.S324S	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Silent_p.S324S	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	324					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TAAGATCCAGGCTACTCAGAA	0.363000														131			56		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48753410	48753410	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48753410C>T	uc002isl.3	+	21	3106	c.3026C>T	c.(3025-3027)tCc>tTc	p.S1009F	ABCC3_uc002isn.3_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1009	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AACAACACTTCCCTGAGGCTG	0.547000														34			21		0	0	1	0	0
ANP32C	23520	broad.mit.edu	37	4	165118669	165118669	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:165118669C>T	uc011cjk.2	-	0	195	c.195G>A	c.(193-195)ttG>ttA	p.L65L	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	65										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		CAAGCTTTCTCAACTTTAACT	0.413000														183			20		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176708876	176708876	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176708876C>T	uc001gkz.3	+	12	5077	c.3913C>T	c.(3913-3915)Cgt>Tgt	p.R1305C	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1305					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GACCGATGTCCGTGGAAGCAA	0.493000														59			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106631450	106631450	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106631450C>T	uc021ser.1	-	1557		c.30529G>A								Parts of antibodies, mostly variable regions.																		AGAAGAGGATCCCCCAGGTAC	0.552000														51			20		0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63668267	63668267	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63668267C>T	uc001nxw.3	+	9	1483	c.904C>T	c.(904-906)Cga>Tga	p.R302*	MARK2_uc001nxv.4_Nonsense_Mutation_p.R302*|MARK2_uc001nxx.3_Nonsense_Mutation_p.R302*|MARK2_uc001nxy.3_Nonsense_Mutation_p.R302*|MARK2_uc001nxz.4_Nonsense_Mutation_p.R269*|MARK2_uc009yoy.3_Nonsense_Mutation_p.R269*	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	302	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S301F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CATGAAAGATCGATGGATGAA	0.562000														275			24		0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74658705	74658705	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:74658705G>A	uc001jte.1	+	1	563	c.345G>A	c.(343-345)tgG>tgA	p.W115*	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	115						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GCTGTCTCTGGAACACCACGG	0.587000														51			19		0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450542	158450542	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158450542G>A	uc010pik.2	+	0	875	c.875G>A	c.(874-876)aGg>aAg	p.R292K	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AACAAAGACAGGCTGGTGACG	0.458000														61			19		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151891543	151891543	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:151891543C>T	uc003wla.3	-	28	4708	c.4489G>A	c.(4489-4491)Gac>Aac	p.D1497N	MLL3_uc003wkz.3_Missense_Mutation_p.D558N	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1497					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACCATTTTGTCTAGTTCAGGA	0.373000			N		medulloblastoma									117			13		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36330466	36330466	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36330466G>A	uc002oby.3	-	20	3015	c.2859C>T	c.(2857-2859)acC>acT	p.T953T	NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	953	Fibronectin type-III.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGGAGTGTGGGGTCAGACTCA	0.557000														98			21		0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60184221	60184221	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60184221G>A	uc001npj.3	+	4	2345	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	MS4A14_uc001npi.3_Missense_Mutation_p.E482K|MS4A14_uc001npn.3_Missense_Mutation_p.E332K|MS4A14_uc001npk.3_Missense_Mutation_p.E577K|MS4A14_uc001npl.3_Missense_Mutation_p.E332K|MS4A14_uc001npm.3_Missense_Mutation_p.E332K	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	594	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GACTGATAAGGAGCAAAACTC	0.463000														33			14		0	0	1	0	0
CNPPD1	27013	broad.mit.edu	37	2	220037701	220037701	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220037701G>A	uc002vju.4	-	7	992	c.840C>T	c.(838-840)ccC>ccT	p.P280P	NHEJ1_uc002vjq.4_5'Flank|SLC23A3_uc010zkr.2_5'Flank|SLC23A3_uc010zks.2_5'Flank|SLC23A3_uc010fwb.3_5'Flank|CNPPD1_uc002vjv.3_Silent_p.P280P	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA.	280					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						AAGGTATGCAGGGCTCCAGGA	0.612000														136			11		0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21967278	21967278	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21967278G>A	uc001wbc.3	-	9	1614	c.1522C>T	c.(1522-1524)Cgt>Tgt	p.R508C	TOX4_uc001waz.3_3'UTR|TOX4_uc010tlu.2_3'UTR|TOX4_uc010tlv.2_3'UTR|METTL3_uc001wbb.3_Missense_Mutation_p.R353C	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	Homo sapiens methyltransferase like 3 (METTL3), mRNA.	508					gene expression	nuclear speck	RNA binding|mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CTGGTGGAACGAACCTAGGAA	0.373000														39			24		0	0	1	0	0
PCDHB18	54660	broad.mit.edu	37	5	140616020	140616020	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140616020G>A	uc003ljc.1	+	0	2083	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCTGCTGAGCGAGCGCGACGC	0.711000														89			35		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796941	69796941	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69796941C>T	uc003hef.2	-	3	1047	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	339						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGGTTTTTTTCCTTTGTACCT	0.358000														51			24		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111398053	111398054	+	Missense_Mutation	DNP	CG	TA	TA	rs146450390		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:111398053_111398054CG>TA	uc003iab.4	+	0	825_826	c.483_484CG>TA	c.(481-486)ttcgag>ttTAag	p.E162K		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	162					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.F161F(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GGAGGTGTTTCGAGTACAAAAA	0.629000														143			54		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52945956	52945956	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:52945956C>T	uc003gzl.3	+	8	1504	c.1226C>T	c.(1225-1227)cCt>cTt	p.P409L	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.P377L|SPATA18_uc003gzk.1_Missense_Mutation_p.P409L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	409					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCATTCCCTCCTGTCGTTGAC	0.438000														218			90		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129039953	129039953	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:129039953G>A	uc003kvb.1	+	20	3163	c.3163G>A	c.(3163-3165)Ggc>Agc	p.G1055S	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.	1055	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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)		GTGTGGCAAAGGCATACGTCA	0.423000														128			53		0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42162048	42162048	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42162048C>T	uc002xkn.1	+	5	641	c.510C>T	c.(508-510)acC>acT	p.T170T	L3MBTL1_uc010zwh.2_Silent_p.T479T|L3MBTL1_uc002xkm.3_Silent_p.T411T|L3MBTL1_uc010ggl.3_Silent_p.T411T|L3MBTL1_uc002xkl.3_Silent_p.T411T|L3MBTL1_uc002xko.3_Silent_p.T63T	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	411					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			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						AGCCCCTCACCCCTCCACAAG	0.592000														62			14		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91809811	91809811	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:91809811G>A	uc002bqv.3	+	8	1900	c.1009_splice	c.e8-1	p.V337_splice	SV2B_uc002bqt.3_Splice_Site_p.V337_splice|SV2B_uc002bqu.4_Splice_Site|SV2B_uc010uqv.2_Splice_Site_p.V186_splice	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	337					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTACTTTTCAGGTTTCCAACA	0.373000														69			18		0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73535261	73535261	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:73535261C>T	uc003uaa.2	+	14	1877	c.1663C>T	c.(1663-1665)Cgc>Tgc	p.R555C	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Missense_Mutation_p.R521C	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	555	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	p.R555H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CTACCTGCCCCGCACCATGGA	0.647000														130			74		0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230687	147230687	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:147230687G>A	uc021ovl.1	-	0	660	c.660C>T	c.(658-660)ctC>ctT	p.L220L	GJA5_uc001eps.1_Silent_p.L220L|GJA5_uc001ept.1_Silent_p.L220L	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	220					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CCAGGCTAAGGAGGAGGGACA	0.562000														24			19		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2717815	2717815	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2717815C>T	uc009zdu.1	+	27	3868	c.3555C>T	c.(3553-3555)gtC>gtT	p.V1185V	CACNA1C_uc001qkc.2_Silent_p.V1165V|CACNA1C_uc001qjz.2_Silent_p.V1165V|CACNA1C_uc001qkd.2_Silent_p.V1165V|CACNA1C_uc001qke.2_Silent_p.V1165V|CACNA1C_uc001qkf.2_Silent_p.V1165V|CACNA1C_uc009zdw.1_Silent_p.V1165V|CACNA1C_uc001qkg.2_Silent_p.V1165V|CACNA1C_uc001qkh.2_Silent_p.V1165V|CACNA1C_uc001qkl.2_Silent_p.V1185V|CACNA1C_uc001qkj.2_Silent_p.V1165V|CACNA1C_uc001qkk.2_Silent_p.V1165V|CACNA1C_uc001qkn.2_Silent_p.V1165V|CACNA1C_uc001qkm.2_Silent_p.V1165V|CACNA1C_uc001qko.2_Silent_p.V1185V|CACNA1C_uc001qkp.2_Silent_p.V1165V|CACNA1C_uc001qkq.2_Silent_p.V1165V|CACNA1C_uc001qku.2_Silent_p.V1165V|CACNA1C_uc001qkr.2_Silent_p.V1165V|CACNA1C_uc001qks.2_Silent_p.V1165V|CACNA1C_uc001qkt.2_Silent_p.V1165V|CACNA1C_uc009zdv.1_Silent_p.V1162V|CACNA1C_uc001qkb.2_Silent_p.V1165V|CACNA1C_uc001qka.1_Silent_p.V700V|CACNA1C_uc001qki.1_Silent_p.V901V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1185	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	tgggcttcgtcatcgtcaccT	0.532000														37			12		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887076	3887076	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:3887076C>T	uc003bpt.4	+	1	1512	c.751C>T	c.(751-753)Ctg>Ttg	p.L251L	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.L251L	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	251						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TGATAACAAACTGGTTAAAGT	0.403000														142			53		0	0	1	0	0
LOC644172	644172	broad.mit.edu	37	17	43679239	43679239	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:43679239G>A	uc010wjw.1	-	0	510	c.426C>T	c.(424-426)tcC>tcT	p.S142S						Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 pseudogene (LOC644172), non-coding RNA.																		GGCTGTTGGTGGAGGTGCCTC	0.647000														48			7		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181752865	181752865	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181752865C>T	uc009wxt.3	+	39	5610	c.5415C>T	c.(5413-5415)ttC>ttT	p.F1805F	CACNA1E_uc001gow.3_Silent_p.F1805F|CACNA1E_uc009wxs.3_Silent_p.F1786F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1805					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						CGGTCCACTTCACCTCCACAC	0.443000														50			15		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10315987	10315987	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10315987G>A	uc002gmm.2	-	12	1301	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	402	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TAGGGTAGCAGAGGGCTTTGA	0.502000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					142			96		0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170688895	170688895	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:170688895G>A	uc001ghf.3	+	1	317	c.270G>A	c.(268-270)aaG>aaA	p.K90K	PRRX1_uc001ghe.3_Silent_p.K90K	NM_022716	NP_073207	P54821	PRRX1_HUMAN	Homo sapiens paired related homeobox 1 (PRRX1), transcript variant pmx-1b, mRNA.	90						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAGAAAAAAAGAAGAGAAAGC	0.433000														27			6		0	0	1	0	0
DERL1	79139	broad.mit.edu	37	8	124034951	124034951	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:124034951T>A	uc003ypl.2	-	4	712	c.426A>T	c.(424-426)gtA>gtT	p.V142V	DERL1_uc003ypm.2_Silent_p.V142V|DERL1_uc011lif.1_Intron|DERL1_uc003ypn.2_Silent_p.V142V	NM_024295	NP_077271	Q9BUN8	DERL1_HUMAN	Homo sapiens Der1-like domain family, member 1 (DERL1), transcript variant 1, mRNA.	142					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ACCAAAATGATACAATCATGT	0.418000											OREG0018957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		156			28		0	0	1	0	0
KCNE1L	23630	broad.mit.edu	37	X	108867989	108867989	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:108867989G>A	uc004eoh.3	-	0	405	c.261C>T	c.(259-261)ctC>ctT	p.L87L		NM_012282	NP_036414	Q9UJ90	KCE1L_HUMAN	Homo sapiens KCNE1-like (KCNE1L), mRNA.	87					regulation of heart contraction	voltage-gated potassium channel complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						TGGCCTCGACGAGCTTACGGG	0.687000														20			4		0	0	1	0	0
FERMT2	10979	broad.mit.edu	37	14	53347812	53347812	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:53347812T>C	uc001xac.3	-	5	983	c.797A>G	c.(796-798)gAa>gGa	p.E266G	FERMT2_uc001xad.3_Missense_Mutation_p.E266G|FERMT2_uc001xae.3_Missense_Mutation_p.E266G|FERMT2_uc001xaf.3_Missense_Mutation_p.E266G	NM_001134999	NP_001128471	Q96AC1	FERM2_HUMAN	Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA.	266	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					GGCCTCATTTTCCTTCACATC	0.368000														62			18		0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186761062	186761062	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:186761062G>A	uc003frb.3	+	3	1204	c.571G>A	c.(571-573)Gga>Aga	p.G191R	ST6GAL1_uc003frc.3_Intron|ST6GAL1_uc003frd.3_Missense_Mutation_p.G191R	NM_173216	NP_775323	P15907	SIAT1_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.	191					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.A190A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GTCGTCAGCGGGATCTCTGAA	0.522000														141			26		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43552318	43552318	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43552318G>A	uc001zrd.2	-	2	376	c.368C>T	c.(367-369)tCc>tTc	p.S123F	TGM5_uc001zre.2_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	123					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.D122N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CCCCTGGAAGGAGTCGATGTG	0.627000														107			22		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8188819	8188819	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8188819C>T	uc002mjf.3	-	21	2822	c.2805G>A	c.(2803-2805)cgG>cgA	p.R935R		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	935	TB 5.		R -> L.			proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGACGTCCATCCGGTACTTGC	0.647000														33			13		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937598	21937598	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:21937598G>A	uc010tzj.1	-	0		c.3142C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		ATAATGGGAGGGGCAGTCTCT	0.498000														114			10		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142500312	142500312	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:142500312C>T	uc003ywi.2	-	4	683	c.602G>A	c.(601-603)tGg>tAg	p.W201*	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	201							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CACCACCCGCCACGAGTGCCT	0.652000														32			8		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57399026	57399026	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57399026C>T	uc001cyp.3	-	9	1601	c.1534G>A	c.(1534-1536)Gga>Aga	p.G512R	C8B_uc010oon.2_Missense_Mutation_p.G450R|C8B_uc010ooo.2_Missense_Mutation_p.G460R	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	512	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACAGGGACTCCATTTCCTTGG	0.547000														64			33		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533829	31533829	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31533829C>T	uc003aka.3	-	3	1062	c.933G>A	c.(931-933)ggG>ggA	p.G311G		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	311					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GATGTGGTGGCCCCTTCCGAA	0.652000														139			61		0	0	1	0	0
NDUFA9	4704	broad.mit.edu	37	12	4796131	4796131	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4796131C>T	uc001qnc.3	+	10	1020	c.991C>T	c.(991-993)Cac>Tac	p.H331Y	NDUFA9_uc010ses.2_Missense_Mutation_p.H112Y	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA.	331					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	GAAATTGCCTCACCTGCCTGG	0.502000														33			15		0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7661052	7661052	+	Silent	SNP	T	G	G	rs56030009		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7661052T>G	uc001mfj.4	+	14	1714	c.1326T>G	c.(1324-1326)ccT>ccG	p.P442P	PPFIBP2_uc010rbb.1_Silent_p.P365P|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Silent_p.P365P|PPFIBP2_uc010rbd.1_Silent_p.P284P|PPFIBP2_uc010rbe.2_Silent_p.P330P|PPFIBP2_uc001mfl.4_Silent_p.P299P|PPFIBP2_uc009yfj.1_Silent_p.P86P	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	442					DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding	p.P442S(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCAAATCTCCTCCCACCATCT	0.597000														136			40		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120690526	120690526	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:120690526C>T	uc001pxn.2	+	5	695	c.408C>T	c.(406-408)acC>acT	p.T136T	GRIK4_uc009zav.1_Silent_p.T136T|GRIK4_uc009zaw.1_Silent_p.T136T|GRIK4_uc009zax.1_Silent_p.T136T	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	136					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GATTCACAACCCTGAACCTCC	0.557000														279			104		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38616851	38616851	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38616851G>A	uc021wvo.1	-	18	3655	c.3603C>T	c.(3601-3603)atC>atT	p.I1201I	SCN5A_uc021wvk.1_Silent_p.I1200I|SCN5A_uc021wvl.1_Silent_p.I1147I|SCN5A_uc021wvm.1_Silent_p.I1201I|SCN5A_uc021wvn.1_Silent_p.I1200I|SCN5A_uc021wvp.1_Silent_p.I1201I|SCN5A_uc021wvq.1_Silent_p.I1200I|SCN5A_uc021wvr.1_Silent_p.I1201I|SCN5A_uc021wvs.1_Silent_p.I1201I|SCN5A_uc021wvt.1_Silent_p.I1200I|SCN5A_uc021wvu.1_Silent_p.I1147I|SCN5A_uc021wvv.1_Silent_p.I1201I|SCN5A_uc021wvj.1_Silent_p.I1013I|SCN5A_uc021wvi.1_Silent_p.I1067I|SCN5A_uc021wvw.1_Silent_p.I811I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1201					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGTGCTCCACGATGTGGTAGC	0.617000														16			9		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4433534	4433534	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4433534C>T	uc002mal.3	+	12	2771	c.2671C>T	c.(2671-2673)Cag>Tag	p.Q891*		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	891	Binds to p60.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACGACGGCCAGGTGAGGTG	0.552000								Chromatin Structure						33			14		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50610686	50610686	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:50610686G>A	uc001csb.2	+	1	335	c.67G>A	c.(67-69)Gga>Aga	p.G23R	ELAVL4_uc001cry.3_Missense_Mutation_p.G26R|ELAVL4_uc001crz.3_Missense_Mutation_p.G23R|ELAVL4_uc001csa.3_Missense_Mutation_p.G40R|ELAVL4_uc001csc.3_Missense_Mutation_p.G23R|ELAVL4_uc009vyu.3_Missense_Mutation_p.G28R|ELAVL4_uc010omz.2_Missense_Mutation_p.G28R	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	23					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TACAAGCAATGGACCCTCCAG	0.418000														54			7		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39454590	39454590	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:39454590C>T	uc001uwv.3	+	23	9485	c.9176C>T	c.(9175-9177)cCc>cTc	p.P3059L		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	3059					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGGAGCACACCCTCACTGGCA	0.537000														92			15		0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94849449	94849449	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94849449C>T	uc001ycy.4	-	3	680	c.126G>A	c.(124-126)caG>caA	p.Q42Q	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Silent_p.Q42Q|SERPINA1_uc010auy.3_Silent_p.Q42Q|SERPINA1_uc001ycz.4_Silent_p.Q42Q|SERPINA1_uc010auz.3_Silent_p.Q42Q|SERPINA1_uc010ava.3_Silent_p.Q42Q|SERPINA1_uc001ydb.4_Silent_p.Q42Q|SERPINA1_uc010avb.3_Silent_p.Q42Q|SERPINA1_uc001ydc.4_Silent_p.Q42Q|SERPINA1_uc010auw.3_Silent_p.Q42Q|SERPINA1_uc010aux.3_Silent_p.Q42Q|SERPINA1_uc001yda.1_Silent_p.Q42Q	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	42					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TTGGGTGATCCTGATCATGGT	0.577000														65			14		0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160857870	160857870	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:160857870C>T	uc003qti.3	+	5	1061	c.1034C>T	c.(1033-1035)cCc>cTc	p.P345L	SLC22A3_uc011efx.2_Intron	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	345						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GTGAGAACTCCCCAAATGAGG	0.343000														25			26		0	0	1	0	0
C19orf52	90580	broad.mit.edu	37	19	11040106	11040106	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11040106C>T	uc002mqd.2	+	1	586	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	YIPF2_uc002mqb.3_5'Flank|YIPF2_uc002mqc.3_5'Flank	NM_138358	NP_612367	Q9BSF4	CS052_HUMAN	Homo sapiens chromosome 19 open reading frame 52 (C19orf52), mRNA.	171										prostate(1)	1						CTTCGTGGGTCGCTGGTGGGT	0.701000														21			16		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62288742	62288742	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62288742G>A	uc001ntl.3	-	4	13447	c.13147C>T	c.(13147-13149)Ccc>Tcc	p.P4383S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4383					nervous system development	nucleus	protein binding	p.A4382T(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAGATTTTGGGGGCCTTGATG	0.483000														231			89		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7242219	7242219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7242219C>T	uc010sfy.2	-	3	594	c.535G>A	c.(535-537)Ggc>Agc	p.G179S	C1R_uc010sfz.1_Missense_Mutation_p.G193S|C1R_uc021quh.1_Missense_Mutation_p.G68S|C1R_uc010sga.1_Missense_Mutation_p.G145S	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	179	EGF-like; calcium-binding (Potential).				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	AGCTCATAGCCTGGACGGCAG	0.602000														93			23		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204953175	204953175	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204953175G>A	uc010prc.2	+	20	2721	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	NFASC_uc001hbj.3_Intron|NFASC_uc010pra.2_Missense_Mutation_p.E827K|NFASC_uc001hbi.3_Missense_Mutation_p.E827K|NFASC_uc010prb.2_Missense_Mutation_p.E842K|NFASC_uc001hbk.1_Missense_Mutation_p.E637K|NFASC_uc001hbl.2_Intron|NFASC_uc001hbm.2_5'Flank			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	831	Ig-like C2-type 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCGCCCACTGAAGTTAAAGT	0.557000														46			7		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164732947	164732947	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:164732947G>A	uc003fei.3	-	32	4026	c.3963C>T	c.(3961-3963)gtC>gtT	p.V1321V		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1321	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTGGCCATTTGACAAAGACAT	0.303000										HNSCC(35;0.089)				61			18		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32630909	32630909	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:32630909G>A	uc003zrg.1	-	0	4759	c.4669C>T	c.(4669-4671)Cca>Tca	p.P1557S	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.	1557	Bromo 2.				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)		TAATAATCTGGAACAAACTTC	0.388000														69			32		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51852422	51852422	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51852422G>A	uc001rys.1	+	6	1021	c.843G>A	c.(841-843)gtG>gtA	p.V281V	SLC4A8_uc010sni.2_Silent_p.V228V|SLC4A8_uc001rym.3_Silent_p.V228V|SLC4A8_uc001ryn.3_Silent_p.V228V|SLC4A8_uc001ryo.2_Silent_p.V228V|SLC4A8_uc001ryp.1_Silent_p.V228V|SLC4A8_uc010snj.2_Silent_p.V308V|SLC4A8_uc001ryq.4_Silent_p.V281V|SLC4A8_uc001ryr.3_Silent_p.V281V|SLC4A8_uc010snk.2_Silent_p.V228V	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	281					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ATAGTCCTGTGGATTTAAGCA	0.408000														81			15		0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22390168	22390168	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:22390168G>A	uc003gqm.1	-	18	3391	c.3126C>T	c.(3124-3126)ttC>ttT	p.F1042F	GPR125_uc010ieo.1_Silent_p.F898F|GPR125_uc003gql.1_Silent_p.F169F	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	1042					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GGTGGACCACGAAGAACGCAC	0.473000														32			50		0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27143469	27143469	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:27143469G>A	uc010sjl.2	-	5	1020	c.782C>T	c.(781-783)cCg>cTg	p.P261L		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	261						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATTTAGAAACGGGTCCCAAAC	0.483000														92			25		0	0	1	0	0
ERVFRD-1	405754	broad.mit.edu	37	6	11104936	11104936	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:11104936C>T	uc003mzt.3	-	1	1090	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	C6orf228_uc011dio.2_Intron|ERVFRD-1_uc021ylp.1_Missense_Mutation_p.R203Q	NM_207582	NP_997465	P60508	EFRD1_HUMAN	Homo sapiens endogenous retrovirus group FRD, member 1 (ERVFRD-1), mRNA.	203						integral to membrane|plasma membrane|virion		p.R203Q(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						CCAGAAGTTTCGAGTACTGCA	0.463000														126			55		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120491725	120491725	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:120491725G>A	uc001eik.3	-	15	2801	c.2504C>T	c.(2503-2505)gCt>gTt	p.A835V	NOTCH2_uc001eil.3_Missense_Mutation_p.A835V	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	835	EGF-like 22.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAACAGGGAGCCAATACTGT	0.413000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		95			44		0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16740758	16740758	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:16740758C>T	uc010exm.2	-	8	955	c.807G>A	c.(805-807)gtG>gtA	p.V269V	FAM49A_uc002rck.2_Silent_p.V269V	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	269						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			AGAAAGCTCCCACAGGGTGGA	0.468000														111			28		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79428193	79428193	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:79428193C>T	uc002kaf.2	+	24	6318	c.6318C>T	c.(6316-6318)ttC>ttT	p.F2106F	BAHCC1_uc002kae.2_Silent_p.F1398F	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	2168							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			ACGCGCCCTTCGTCGGGGGGA	0.721000														12			4		0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54147547	54147547	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:54147547C>T	uc003xrh.1	-	1	757	c.382G>A	c.(382-384)Gat>Aat	p.D128N	OPRK1_uc022aup.1_Missense_Mutation_p.D8N|OPRK1_uc003xri.1_Missense_Mutation_p.D128N|OPRK1_uc010lyc.1_Missense_Mutation_p.D39N	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	128					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CACAGCACATCCCCAAAAGGC	0.438000														77			42		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	424297	424297	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:424297G>A	uc003bot.3	+	17	2761	c.2119G>A	c.(2119-2121)Gaa>Aaa	p.E707K	CHL1_uc003bou.3_Missense_Mutation_p.E691K|CHL1_uc003bow.2_Missense_Mutation_p.E691K|CHL1_uc011asi.2_Missense_Mutation_p.E707K|BC065754_uc003box.1_Non-coding_Transcript	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	691					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGCCGTGAACGAAGTAGGGAG	0.463000														45			28		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71003108	71003108	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:71003108C>T	uc001swb.4	-	1	96	c.66G>A	c.(64-66)gcG>gcA	p.A22A	PTPRB_uc010sto.2_Silent_p.A22A|PTPRB_uc010stp.2_Silent_p.A22A|PTPRB_uc001swc.4_Silent_p.A240A|PTPRB_uc001swa.4_Silent_p.A240A|PTPRB_uc001swd.4_Silent_p.A239A|PTPRB_uc009zrr.2_Silent_p.A119A|PTPRB_uc001swe.3_Silent_p.A240A	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	22					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCTCTGGCTCCGCCAGTCCAG	0.522000														56			5		0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10583743	10583743	+	Missense_Mutation	SNP	C	T	T	rs34724793		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10583743C>T	uc001qyk.2	-	5	676	c.669G>A	c.(667-669)atG>atA	p.M223I	KLRC2_uc001qyh.3_Intron|KLRC2_uc010she.1_Missense_Mutation_p.M223I	NM_002260	NP_002251	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 2 (KLRC2), mRNA.	223	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						AATGATATATCATTGAAGATC	0.318000														31			33		0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256436	69256436	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:69256436G>A	uc021rve.1	-	2	1132	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	ZFP36L1_uc001xki.2_Silent_p.F277F|ZFP36L1_uc001xkh.2_Silent_p.F277F	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	277					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCCGGAAGAGGAAGGTGGTCG	0.632000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		95			32		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67713779	67713779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:67713779C>T	uc002aqo.2	+	15	2466	c.2369C>T	c.(2368-2370)cCt>cTt	p.P790L	IQCH_uc002aqp.2_Missense_Mutation_p.P451L|IQCH_uc002aqq.2_Missense_Mutation_p.P447L|LOC100506686_uc002aqr.2_Non-coding_Transcript|LOC100506686_uc021spf.1_Non-coding_Transcript	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	790										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ACCACCGTGCCTCAGACCTCA	0.507000														92			18		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1254125	1254125	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1254125C>T	uc002cks.3	+	9	2366	c.2118C>T	c.(2116-2118)gcC>gcT	p.A706A	CACNA1H_uc002ckt.3_Silent_p.A706A	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	706					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)	GCACCCGTGCCCTGGAGGACC	0.672000														14			4		0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21743221	21743221	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:21743221G>A	uc002kve.3	-	27	2992	c.2775C>T	c.(2773-2775)ccC>ccT	p.P925P	OSBPL1A_uc002kvd.3_Silent_p.P412P|OSBPL1A_uc010xbc.2_Silent_p.P543P	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	925					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTCCATTGTAGGGATTAGGAC	0.408000														65			25		0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10383139	10383139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10383139G>A	uc003wta.3	+	0	84	c.44G>A	c.(43-45)gGa>gAa	p.G15E	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.G15E	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	15					proteolysis	integral to membrane	serine-type endopeptidase activity	p.T14T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CTGGTCACGGGAACTCAGCTC	0.677000														45			20		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100087130	100087130	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100087130G>A	uc003uvd.1	+	3	1945	c.1786G>A	c.(1786-1788)Gat>Aat	p.D596N	NYAP1_uc003uve.1_Missense_Mutation_p.D378N	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	596																	GCAAGGGACCGATGGGGGTGC	0.637000														60			31		0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32954811	32954811	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:32954811C>T	uc002ntg.3	+	13	1680	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	DPY19L3_uc002nth.2_Silent_p.F494F|DPY19L3_uc002nti.2_Non-coding_Transcript	NM_001172774	NP_997208	Q6ZPD9	D19L3_HUMAN	Homo sapiens dpy-19-like 3 (C. elegans) (DPY19L3), transcript variant 2, mRNA.	494						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TGTGTGTGTTCGCATCATTCG	0.443000														196			84		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41545673	41545673	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:41545673C>T	uc003xok.3	-	35	4342	c.4258_splice	c.e35+1	p.E1420_splice	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Splice_Site_p.E736_splice|ANK1_uc003xoi.3_Splice_Site_p.E1420_splice|ANK1_uc003xoj.3_Splice_Site_p.E1420_splice|ANK1_uc003xol.3_Splice_Site_p.E1420_splice|ANK1_uc003xom.3_Splice_Site_p.E1461_splice	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1420	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCCCACTCACCTGCCCAGCT	0.498000														183			54		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	98006768	98006768	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98006768C>T	uc001kls.4	-	1	263	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	BLNK_uc001kme.4_5'UTR|BLNK_uc001klt.4_5'UTR|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_5'UTR|BLNK_uc001klv.4_Missense_Mutation_p.E29K|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Missense_Mutation_p.E29K|BLNK_uc001kly.4_Missense_Mutation_p.E29K|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.E29K|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_5'UTR|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	29					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		ATTCCACCTTCATTGTTTTTA	0.259000														81			25		0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1686834	1686834	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1686834G>A	uc001aic.3	-	6	889	c.667C>T	c.(667-669)Caa>Taa	p.Q223*	NADK_uc001aid.4_Nonsense_Mutation_p.Q223*|NADK_uc001aie.3_Nonsense_Mutation_p.Q368*|NADK_uc010nyv.2_Nonsense_Mutation_p.Q191*|NADK_uc009vkx.1_Nonsense_Mutation_p.Q101*	NM_023018	NP_075394	O95544	NADK_HUMAN	Homo sapiens NAD kinase (NADK), transcript variant 1, mRNA.	223					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TGAGTAACTTGGGACTGAAAG	0.577000														260			19		0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150488671	150488671	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150488671G>A	uc022apx.1	-	5	887	c.761C>T	c.(760-762)tCa>tTa	p.S254L	TMEM176B_uc003whu.4_Missense_Mutation_p.S254L|TMEM176B_uc003whv.4_Missense_Mutation_p.S217L|TMEM176B_uc003whw.4_Missense_Mutation_p.S254L	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	254					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGGGCACTGAATTCTCCCC	0.532000														62			19		0	0	1	0	0
RIMS4	140730	broad.mit.edu	37	20	43385610	43385610	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43385610G>A	uc010ggu.3	-	4	590	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	RIMS4_uc002xms.3_Missense_Mutation_p.R174C	NM_001205317	NP_001192246	Q9H426	RIMS4_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 4 (RIMS4), transcript variant 1, mRNA.	174	C2.				exocytosis|neurotransmitter transport	cell junction|synapse		p.R174C(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				AGCGACTTGCGAGCGACTTTG	0.567000														282			122		0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75290181	75290181	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:75290181G>A	uc001juo.3	-	11	1565	c.1548C>T	c.(1546-1548)atC>atT	p.I516I	USP54_uc001juk.3_5'UTR|USP54_uc001jul.3_5'UTR|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Silent_p.I516I|U6_uc021ptn.1_5'Flank|USP54_uc010qkl.1_Silent_p.I516I	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	516					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GTCTGTTATGGATCATATTGC	0.502000														65			17		0	0	1	0	0
NECAB2	54550	broad.mit.edu	37	16	84024221	84024221	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84024221G>A	uc002fhd.3	+	5	599	c.582G>A	c.(580-582)caG>caA	p.Q194Q	NECAB2_uc002fhe.3_Silent_p.Q111Q	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN	Homo sapiens N-terminal EF-hand calcium binding protein 2 (NECAB2), mRNA.	194					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding	p.Q194Q(2)		endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						TCGAGGAACAGACCAGCCAGC	0.627000														42			20		0	0	1	0	0
P2RY12	64805	broad.mit.edu	37	3	151056222	151056222	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151056222G>A	uc003eyw.1	-	1	628	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Missense_Mutation_p.L138F|P2RY12_uc021xga.1_Missense_Mutation_p.L138F	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 12 (P2RY12), transcript variant 2, mRNA.	138					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	GCCCCCAAGAGATTTTTGGGG	0.423000														81			34		0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48565299	48565299	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:48565299G>A	uc010xzd.2	-	13	1580	c.1243C>T	c.(1243-1245)Cac>Tac	p.H415Y	PLA2G4C_uc002phw.3_Missense_Mutation_p.H340Y|PLA2G4C_uc010elr.3_Missense_Mutation_p.H405Y|PLA2G4C_uc002phx.3_Missense_Mutation_p.H405Y	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	405	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AGGATGAGGTGAACCTCCCGC	0.612000														103			34		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27692272	27692272	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:27692272C>T	uc001itu.2	-	2	1344	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	409	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CATTTTGTTTCGTATGCAGTC	0.443000														54			35		0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624387	123624387	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123624387G>A	uc010rzy.2	-	0	840	c.840C>T	c.(838-840)acC>acT	p.T280T		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCAGAAGGGGGGTGAGGATAG	0.443000														99			37		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10443963	10443963	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10443963C>T	uc010coi.3	-	10	1084	c.956G>A	c.(955-957)gGg>gAg	p.G319E	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.G319E|MYH2_uc010coj.3_Missense_Mutation_p.G319E	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	319	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G319W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACTGATCTCCCCTTGACTGAC	0.383000														28			8		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31355448	31355448	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:31355448G>A	uc021sia.1	-	6	1203	c.889C>T	c.(889-891)Cct>Tct	p.P297S	TRPM1_uc010azy.3_Missense_Mutation_p.P171S|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.P280S|TRPM1_uc001zfm.3_Missense_Mutation_p.P258S	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	258					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACCACGTTAGGGCCCCCCTCC	0.612000														108			41		0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145806329	145806329	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145806329G>A	uc003zds.1	-	3	968	c.413C>T	c.(412-414)tCc>tTc	p.S138F	ARHGAP39_uc011llk.1_Missense_Mutation_p.S138F|ARHGAP39_uc003zdt.1_Missense_Mutation_p.S138F	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	138					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CTCCAGGGAGGAGCTGGTGCT	0.716000														18			4		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733541	152733541	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152733541G>A	uc001fal.1	+	1	1535	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	KPRP_uc021ozf.1_Missense_Mutation_p.E493K	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	493	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCTGCAGGGAGACTTGGCG	0.652000														74			35		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17749924	17749924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17749924C>T	uc021uqk.1	-	24	3088	c.3046G>A	c.(3046-3048)Gaa>Aaa	p.E1016K		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1017					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTGTACAGTTCATGGCAGTTA	0.542000														20			4		0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52842628	52842628	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52842628C>T	uc003dfv.2	+	21	2640	c.2604C>T	c.(2602-2604)ttC>ttT	p.F868F	ITIH3_uc011bek.1_Silent_p.F676F	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	868					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TCTGCTGGTTCGTCCACAACA	0.532000														34			10		0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145894431	145894431	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:145894431C>T	uc003lod.1	-	0	1246	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	416						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTAACACCTTCCCCTGTCTCT	0.403000														16			6		0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74831805	74831805	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:74831805G>A	uc021ptk.1	-	2	339	c.307C>T	c.(307-309)Ctt>Ttt	p.L103F	P4HA1_uc010qka.2_Missense_Mutation_p.L103F|P4HA1_uc001jth.3_Missense_Mutation_p.L103F|P4HA1_uc001jtg.3_Missense_Mutation_p.L103F|P4HA1_uc010qkb.2_Missense_Mutation_p.L103F|P4HA1_uc021ptj.1_Missense_Mutation_p.L103F	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	103						endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATATCCTTAAGGACCAGATTC	0.363000														206			63		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907685	12907685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12907685G>A	uc010obf.2	-	1	684	c.458C>T	c.(457-459)tCa>tTa	p.S153L	LOC649330_uc009vno.2_Missense_Mutation_p.S153L	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	153							nucleic acid binding|nucleotide binding										GCCCCTTCGTGAGGTGTTTCC	0.498000														395			66		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24388527	24388527	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24388527C>T	uc001bin.4	-	32	4006	c.3843G>A	c.(3841-3843)ctG>ctA	p.L1281L	MYOM3_uc001bil.4_Silent_p.L174L|MYOM3_uc001bim.4_Silent_p.L938L	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1281										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTTGGGGTCCAGGATGTGAA	0.522000														188			57		0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119029946	119029946	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:119029946G>A	uc001ldd.2	+	14	1575	c.1412G>A	c.(1411-1413)cGa>cAa	p.R471Q	SLC18A2_uc009xyy.2_Missense_Mutation_p.R268Q	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	471					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TTTTTTCTTCGAAGTCCACCT	0.393000														109			18		0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184003362	184003362	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:184003362C>T	uc003fni.4	+	9	1637	c.1599C>T	c.(1597-1599)acC>acT	p.T533T	ECE2_uc011brh.1_Silent_p.T386T|ECE2_uc003fnl.4_Silent_p.T461T|ECE2_uc003fnm.4_Silent_p.T415T|ECE2_uc003fnk.4_Silent_p.T386T|ECE2_uc011bri.1_Silent_p.T448T|ECE2_uc010hxv.3_Silent_p.T177T	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	533	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.A533T(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCTGGAGACCCTCTATGGCA	0.512000														79			10		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038904	17038904	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17038904C>T	uc002nfb.3	-	24	3458	c.3426G>A	c.(3424-3426)gtG>gtA	p.V1142V		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1095						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCTCTCGTCCACCTCCATCT	0.642000														62			24		0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145641171	145641171	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:145641171C>T	uc003lnz.4	+	12	2158	c.1992C>T	c.(1990-1992)aaC>aaT	p.N664N	RBM27_uc003lny.2_Silent_p.N609N	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	664	RRM.				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)			TTCTAAACAACCGATTCATTC	0.468000														142			52		0	0	1	0	0
CD200R1L	344807	broad.mit.edu	37	3	112545989	112545989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:112545989C>T	uc003dzi.1	-	3	756	c.530G>A	c.(529-531)gGa>gAa	p.G177E	CD200R1L_uc010hqf.1_Missense_Mutation_p.G156E|CD200R1L_uc011bhw.1_Missense_Mutation_p.G156E	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	177	Ig-like C2-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						AAGAATAGATCCCTCTGGGAT	0.507000														35			13		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1558805	1558805	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:1558805G>A	uc002fte.3	-	36	5940	c.5826C>T	c.(5824-5826)gcC>gcT	p.A1942A		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1942	Involved in interaction with pre-mRNA 5' splice site.					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCACATGTAGGGCACGCAGAA	0.498000														57			41		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50278458	50278458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:50278458C>T	uc002lfe.2	+	1	742	c.126C>T	c.(124-126)ttC>ttT	p.F42F	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	42	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACTGCGCTTCCTCTCAGAAC	0.483000														44			15		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117681082	117681082	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:117681082C>T	uc003pxp.1	-	22	3737	c.3538G>A	c.(3538-3540)Gca>Aca	p.A1180T	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1180					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACTCTTTCTGCTGAAAACGTC	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									52			41		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572881	38572881	+	Missense_Mutation	SNP	C	T	T	rs147366609		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38572881C>T	uc002ohk.3	+	2	1185	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	226					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GAACGAGTTCCGCAGCGAGCA	0.706000														70			21		0	0	1	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814709	54814709	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:54814709C>T	uc002lgm.3	+	0	417	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C						Homo sapiens biorientation of chromosomes in cell division 1 pseudogene (BOD1P), non-coding RNA.																		TGACAGCTTCCGCCGGGACTG	0.592000														9			4		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206480313	206480313	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:206480313C>T	uc002var.2	+	22	3601	c.3394C>T	c.(3394-3396)Ctc>Ttc	p.L1132F	PARD3B_uc002vao.2_Missense_Mutation_p.L1031F|PARD3B_uc002vap.2_Missense_Mutation_p.L1070F|PARD3B_uc002vaq.2_Missense_Mutation_p.L1063F	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	1132					cell cycle|cell division	endomembrane system|tight junction		p.Q1132_D1133>HY(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCCCACAGAGCTCAGGGTGGC	0.617000														106			30		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907474	12907474	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12907474C>T	uc010obf.2	-	1	895	c.669G>A	c.(667-669)gaG>gaA	p.E223E	LOC649330_uc009vno.2_Silent_p.E223E	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	223							nucleic acid binding|nucleotide binding										TACTGCTCTGCTCCTCTTCTG	0.463000														180			62		0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446940	169446940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169446940G>A	uc001gge.4	-	1	464	c.260C>T	c.(259-261)cCt>cTt	p.P87L	SLC19A2_uc001ggf.4_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA.	87					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					AAGGAACACAGGAAACAGTAG	0.403000														21			10		0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100950384	100950384	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:100950384C>T	uc010avx.3	+	3	1117	c.1024C>T	c.(1024-1026)Cat>Tat	p.H342Y	WDR25_uc001yhn.3_Missense_Mutation_p.H342Y|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_Missense_Mutation_p.H85Y	NM_001161476	NP_078791	Q64LD2	WDR25_HUMAN	Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA.	342										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CTTGAAATTCCATCCAAAAGA	0.398000														127			46		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605745	171605745	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171605745G>A	uc001ghu.3	-	2	857	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	MYOC_uc010pmk.2_Missense_Mutation_p.P221S	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	279	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGGGTGTAGGGGTAGGTGGGC	0.537000														62			46		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526574	23526574	+	Silent	SNP	G	A	A	rs112001060		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:23526574G>A	uc003jgo.3	+	10	1559	c.1377G>A	c.(1375-1377)agG>agA	p.R459R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	459					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R459S(2)|p.E458*(2)		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						TCAAAGAAAGGTCCAAACTCT	0.468000										HNSCC(3;0.000094)				28			10		0	0	1	0	0
AARS	16	broad.mit.edu	37	16	70298899	70298899	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:70298899G>A	uc002eyn.1	-	10	1564	c.1454C>T	c.(1453-1455)cCa>cTa	p.P485L	AARS_uc010vlu.1_Missense_Mutation_p.P315L	NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	485					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	ATTGTACTTTGGGGAATCATC	0.517000														37			22		0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159384	152159384	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:152159384C>T	uc022chn.1	-	0	759	c.759G>A	c.(757-759)ccG>ccA	p.P253P	PNMA5_uc010ntx.3_Silent_p.P253P|PNMA5_uc010ntw.3_Silent_p.P253P|PNMA5_uc004fgy.4_Silent_p.P253P|PNMA5_uc022chm.1_Silent_p.P253P	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	253					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCAATCTTCGGAGAGGTCT	0.522000														26			45		0	0	1	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87151852	87151852	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:87151852G>A	uc003ydp.1	+	2	538	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	157					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CATTCTGATCGAAACGCCATT	0.418000														74			30		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149046	34149046	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:34149046C>T	uc004ddg.3	-	0	1402	c.1350G>A	c.(1348-1350)aaG>aaA	p.K450K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	450										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCTTAGTTTTCTTCACCCGGG	0.552000														20			26		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690308	99690308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:99690308C>T	uc001pga.3	+	3	593	c.89C>T	c.(88-90)tCa>tTa	p.S30L	CNTN5_uc009ywv.2_Missense_Mutation_p.S30L|CNTN5_uc001pfz.3_Missense_Mutation_p.S30L|CNTN5_uc021qpb.1_Missense_Mutation_p.S30L|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	30					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTCTCCACTTCATATGCTGCT	0.338000														145			16		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8928844	8928844	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:8928844G>A	uc002qzc.2	-	14	1902	c.1720C>T	c.(1720-1722)Ctc>Ttc	p.L574F	KIDINS220_uc010yiv.1_Missense_Mutation_p.L340F|KIDINS220_uc002qzd.2_Missense_Mutation_p.L532F|KIDINS220_uc010yiw.1_Missense_Mutation_p.L575F	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	574	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATTTAAGGAGGAGTTCCAAA	0.428000														98			35		0	0	1	0	0
SDAD1	55153	broad.mit.edu	37	4	76879000	76879000	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:76879000G>A	uc003hje.4	-	18	1697	c.1578_splice	c.e18+1	p.I526_splice	SDAD1_uc003hjf.4_Splice_Site_p.I429_splice|SDAD1_uc011cbr.2_Splice_Site_p.I489_splice	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	526					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCAGACTTACGATTTCTTGCT	0.423000														127			58		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98369528	98369528	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98369528G>A	uc001kmq.3	-	13	2239	c.2111C>T	c.(2110-2112)cCc>cTc	p.P704L	PIK3AP1_uc001kmo.3_Missense_Mutation_p.P303L|PIK3AP1_uc001kmp.3_Missense_Mutation_p.P526L	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	704						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)		CGTCCTAGGGGGAATGACACT	0.577000														255			111		0	0	1	0	0
SPO11	23626	broad.mit.edu	37	20	55908293	55908293	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:55908293A>C	uc002xye.3	+	2	388	c.295A>C	c.(295-297)Aag>Cag	p.K99Q	SPO11_uc002xyf.3_Missense_Mutation_p.K61Q	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	Homo sapiens SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae) (SPO11), transcript variant 1, mRNA.	99					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			CACCACCAGAAAGATCAAAAG	0.308000								Editing and processing nucleases						68			8		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128491627	128491627	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128491627C>T	uc003vnz.4	+	34	5996	c.5787C>T	c.(5785-5787)atC>atT	p.I1929I	FLNC_uc003voa.4_Silent_p.I1896I	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1929					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACAGCATCATCGTGCGCTTCG	0.587000														76			30		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63885483	63885483	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63885483G>A	uc021qks.1	+	0	1744	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.E582K	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	554					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CCAGGCTGGCGAGCTGCTGAC	0.627000														52			4		0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15374430	15374430	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:15374430C>T	uc003nbj.3	+	1	372	c.128C>T	c.(127-129)tCc>tTc	p.S43F	JARID2_uc011diu.1_5'UTR|JARID2_uc011div.2_5'UTR	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	43					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TTCAAGAATTCCCAGAAGAGG	0.443000														131			65		0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241535813	241535813	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241535813C>T	uc002vzk.2	+	7	1552	c.1356C>T	c.(1354-1356)gaC>gaT	p.D452D	CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Intron|CAPN10_uc002vzn.2_Silent_p.D324D|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	452	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		ATGCATACGACCGGGAGGTCC	0.652000														86			13		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133895173	133895173	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133895173C>T	uc003ytw.3	+	7	1045	c.1004C>T	c.(1003-1005)cCc>cTc	p.P335L		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	335	Thyroglobulin type-1 4.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACGGAAGGGCCCTGCTGGTGT	0.607000														32			19		0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119911838	119911838	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:119911838T>A	uc011bjf.2	-	3	802	c.422A>T	c.(421-423)aAg>aTg	p.K141M	GPR156_uc011bjg.2_Missense_Mutation_p.K141M	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	141						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TCGCCAGCTCTTTCCCAGAAT	0.512000														84			20		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107360936	107360936	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107360936C>T	uc011lvp.2	-	0	759	c.759G>A	c.(757-759)ggG>ggA	p.G253G		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GGAAGATGGTCCCACAGAATG	0.428000														85			22		0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219483369	219483369	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219483369G>A	uc021vwx.1	+	3	588	c.249G>A	c.(247-249)gaG>gaA	p.E83E	PLCD4_uc021vww.1_Non-coding_Transcript|PLCD4_uc002vik.1_5'Flank|PLCD4_uc010zkk.1_5'Flank	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	83	PH.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCCTGGCAGAGGAGCTCCCCC	0.557000														38			18		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133704	22133704	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22133704G>A	uc010tmd.2	+	0	408	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CCAATGTGATGAACATGAGAG	0.483000														126			69		0	0	1	0	0
NDRG1	10397	broad.mit.edu	37	8	134261013	134261013	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:134261013G>A	uc003yuh.2	-	11	1285	c.699_splice	c.e11-1	p.S233_splice	NDRG1_uc003yuf.1_Splice_Site_p.S44_splice|NDRG1_uc003yug.2_Splice_Site_p.S233_splice|NDRG1_uc010mee.2_Splice_Site_p.S152_splice|NDRG1_uc010mef.2_Splice_Site_p.S167_splice|NDRG1_uc011ljh.1_Splice_Site_p.S61_splice|NDRG1_uc011lji.1_Intron	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.	233					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AGGTCGCGCCGGCTGCAGGAA	0.607000			T	ERG	prostate									100			11		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519613	113519613	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:113519613C>T	uc010ljy.1	-	3	1565	c.1534G>A	c.(1534-1536)Ggc>Agc	p.G512S		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	512					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTACCATTGCCATAATAATCT	0.323000														34			10		0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919144	12919144	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12919144C>T	uc001aum.1	+	1	367	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	94										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGAAGGATCGCCCCAGGTG	0.552000														308			95		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067485	190067485	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:190067485G>A	uc001gse.1	-	7	2196	c.1964C>T	c.(1963-1965)tCc>tTc	p.S655F	FAM5C_uc010pot.1_Missense_Mutation_p.S553F	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	655						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)					CAGGTTCCGGGAAGGGTCAAT	0.443000														131			42		0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36634028	36634028	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:36634028G>A	uc022abu.1	-	11	1256	c.855C>T	c.(853-855)ttC>ttT	p.F285F	AOAH_uc003tfh.4_Silent_p.F285F|AOAH_uc011kba.2_Silent_p.F253F	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	285					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GTAGATTGATGAAAGAGTTCT	0.413000														42			25		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233393906	233393906	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233393906C>T	uc001hvl.2	-	4	1937	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R	PCNXL2_uc009xfu.3_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.	568						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)				GGCATTTGTCCTTCCTTAGCC	0.423000														54			14		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501994	140501994	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140501994C>T	uc003lip.1	+	0	414	c.414C>T	c.(412-414)ctC>ctT	p.L138L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	138	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGAAGTGCTCTTGAAAATAC	0.408000														86			30		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519690	113519690	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:113519690C>T	uc010ljy.1	-	3	1488	c.1457G>A	c.(1456-1458)cGa>cAa	p.R486Q		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	486					glycogen metabolic process	integral to membrane		p.R486Q(4)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAAATCTCTTCGTAAACATCC	0.363000														52			11		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573729	38573729	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38573729C>T	uc002ohk.3	+	2	2033	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	508					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGATTACTTCGTGGGCAAAG	0.622000														30			22		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126136884	126136884	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:126136884G>A	uc004bnx.1	+	10	3508	c.3416G>A	c.(3415-3417)aGc>aAc	p.S1139N		NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	1139	EGF-like 14.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AAGGAGTGCAGCCTGAATGTC	0.662000														56			5		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216420478	216420478	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:216420478C>T	uc001hku.1	-	12	2645	c.2258G>A	c.(2257-2259)gGc>gAc	p.G753D	USH2A_uc001hkv.3_Missense_Mutation_p.G753D	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	753	Laminin EGF-like 5.				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)		GTTCACTGAGCCATGGAGGTT	0.428000										HNSCC(13;0.011)				145			13		0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129205174	129205174	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:129205174G>A	uc004evd.4	-	6	1035	c.650C>T	c.(649-651)gCt>gTt	p.A217V	ELF4_uc004eve.4_Missense_Mutation_p.A217V	NM_001421	NP_001412	Q99607	ELF4_HUMAN	Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA.	217					NK T cell proliferation|natural killer cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TTGCAGAAGAGCCAGGAGGAA	0.597000			T	ERG	AML									27			45		0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27473142	27473142	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:27473142G>A	uc011aww.2	-	6	1018	c.797C>T	c.(796-798)tCc>tTc	p.S266F	SLC4A7_uc011awx.2_Missense_Mutation_p.S253F|SLC4A7_uc021wun.1_Intron|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.S249F|SLC4A7_uc011awz.2_Intron|SLC4A7_uc011axa.2_Intron|SLC4A7_uc011axb.2_Missense_Mutation_p.S253F|SLC4A7_uc021wul.1_Intron|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Intron|SLC4A7_uc021wum.1_Intron|SLC4A7_uc003cdu.4_Intron|SLC4A7_uc010hfm.2_Intron|SLC4A7_uc003cdv.3_Missense_Mutation_p.S257F|SLC4A7_uc003cdw.3_Intron	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	257						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						AGAGTGGCGGGAGGCTGAAAG	0.398000														74			23		0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66478830	66478830	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:66478830C>T	uc003juy.2	-	2	1989	c.1841G>A	c.(1840-1842)aGg>aAg	p.R614K		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	614	LRRCT.				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CTTAACTCCCCTTAGAGATGG	0.413000														79			37		0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230492691	230492691	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:230492691G>A	uc010pwb.2	-	1	525	c.501C>T	c.(499-501)ctC>ctT	p.L167L		NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	Homo sapiens piggyBac transposable element derived 5 (PGBD5), mRNA.	167						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GCAGGGAGTCGAGGAAGGGCT	0.612000														67			20		0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41135376	41135376	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41135376C>T	uc002ooh.1	+	33	4793	c.4793C>T	c.(4792-4794)tCc>tTc	p.S1598F	LTBP4_uc002oog.1_Missense_Mutation_p.S1561F|LTBP4_uc002ooi.1_Missense_Mutation_p.S1531F|LTBP4_uc002ooj.1_Missense_Mutation_p.S472F|LTBP4_uc002ool.1_Missense_Mutation_p.S611F|LTBP4_uc010xvp.1_Missense_Mutation_p.S359F	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1599	EGF-like 16.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACGGATGGCTCCTTCCGCTGC	0.701000														45			23		0	0	1	0	0
ZNF200	7752	broad.mit.edu	37	16	3274282	3274282	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3274282G>A	uc002cuj.2	-	4	1430	c.798C>T	c.(796-798)taC>taT	p.Y266Y	ZNF200_uc002cum.3_Silent_p.Y265Y|ZNF200_uc002cuk.2_Silent_p.Y266Y|ZNF200_uc010bti.2_Silent_p.Y265Y|ZNF200_uc002cui.2_Silent_p.Y265Y|ZNF200_uc002cul.3_Silent_p.Y265Y	NM_003454	NP_932354	P98182	ZN200_HUMAN	Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA.	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						GGGAAATGAGGTAAGAACTTT	0.408000														49			30		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232551301	232551301	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:232551301G>A	uc001hvg.3	-	16	4859	c.4701C>T	c.(4699-4701)ctC>ctT	p.L1567L	SIPA1L2_uc001hvf.3_Silent_p.L641L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1567					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGTGTCCGGGAGGGGCATCA	0.542000														123			39		0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29390737	29390737	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:29390737C>T	uc001zck.3	+	7	1500	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	APBA2_uc010azj.2_Silent_p.F420F|APBA2_uc010uat.2_Silent_p.F420F|APBA2_uc001zcl.3_Silent_p.F420F|APBA2_uc001zcm.1_Silent_p.F124F	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	432	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGGACCTCTTCATTTCCACCC	0.443000														62			19		0	0	1	0	0
BTBD3	22903	broad.mit.edu	37	20	11903963	11903963	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:11903963C>T	uc002wnz.3	+	3	1577	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	BTBD3_uc002wny.3_Silent_p.F345F|BTBD3_uc002woa.3_Silent_p.F345F|BTBD3_uc010zrf.2_Silent_p.F255F|BTBD3_uc010zrg.2_Silent_p.F255F|BTBD3_uc010zrh.2_Silent_p.F255F	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	406										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AAAGAGTGTTCATTGCTGGCT	0.522000														55			23		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131521621	131521621	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:131521621G>A	uc021voy.1	+	0	1976	c.1976G>A	c.(1975-1977)aGg>aAg	p.R659K	FAM123C_uc002trw.2_Missense_Mutation_p.R659K|FAM123C_uc010fmv.2_Missense_Mutation_p.R659K|FAM123C_uc010fms.1_Missense_Mutation_p.R659K|FAM123C_uc010fmt.1_Missense_Mutation_p.R659K|FAM123C_uc010fmu.1_Missense_Mutation_p.R659K	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	659										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGCCCCTGGAGGCCAGGTCAC	0.632000														13			5		0	0	1	0	0
BATF	10538	broad.mit.edu	37	14	76013005	76013005	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:76013005C>G	uc001xrr.3	+	2	611	c.369C>G	c.(367-369)ttC>ttG	p.F123L		NM_006399	NP_006390	Q16520	BATF_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like (BATF), mRNA.	123						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		CCCCGCGCTTCCAGCCCTGAG	0.697000														14			6		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275666	130275666	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:130275666G>T	uc001qgg.4	-	8	2815	c.2457C>A	c.(2455-2457)agC>agA	p.S819R	ADAMTS8_uc001qgf.3_Missense_Mutation_p.S300R	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	819	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTCTCTCTTTGCTGCTCTGCA	0.577000														191			63		7.55815e-43	7.60749e-43	1	1	0
PCNXL2	80003	broad.mit.edu	37	1	233150519	233150519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233150519G>A	uc001hvl.2	-	27	5079	c.4844C>T	c.(4843-4845)tCa>tTa	p.S1615L	PCNXL2_uc001hvk.1_Missense_Mutation_p.S267L|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1615						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)				CAGGGTCGTTGAAGGCTGAAA	0.502000														51			16		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33628011	33628011	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:33628011C>T	uc001uus.3	+	1	935	c.927C>T	c.(925-927)acC>acT	p.T309T	KL_uc001uur.1_Silent_p.T2T	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	309	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GAAGAATGACCGACCACAGCA	0.463000														183			56		0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124248484	124248484	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124248484C>T	uc001lgj.2	+	1	667	c.539C>T	c.(538-540)gCc>gTc	p.A180V		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	180					proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				GAGAAGATCGCCCCTGCCGTG	0.448000														108			37		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98545880	98545880	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:98545880C>T	uc003upp.3	+	32	4773	c.4564C>T	c.(4564-4566)Cat>Tat	p.H1522Y	TRRAP_uc011kis.2_Missense_Mutation_p.H1504Y|TRRAP_uc003upr.3_Missense_Mutation_p.H1221Y	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1522					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAACCTTTTTCATCTGATCCC	0.438000														74			38		0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170159870	170159870	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:170159870G>A	uc003mas.3	+	6	1064	c.535G>A	c.(535-537)Gag>Aag	p.E179K	KCNIP1_uc003map.3_Missense_Mutation_p.E177K|KCNIP1_uc003mat.3_Missense_Mutation_p.E168K|KCNIP1_uc010jjp.3_Missense_Mutation_p.E140K|KCNIP1_uc010jjq.3_Missense_Mutation_p.E193K	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	179					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTGCTCAAAGAGGACACTCC	0.498000														59			21		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791659	95791659	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95791659G>A	uc001kjk.3	+	1	1490	c.856G>A	c.(856-858)Gac>Aac	p.D286N	PLCE1_uc010qnx.2_Missense_Mutation_p.D286N	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	286					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTGTAGGAAAGACTTTACTGA	0.378000														128			32		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78369603	78369603	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:78369603G>A	uc001ozl.4	-	33	8273	c.7810C>T	c.(7810-7812)Cta>Tta	p.L2604L	ODZ4_uc001ozk.4_Silent_p.L829L	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2604					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AGGTTCTCTAGGTAGTGGGCA	0.542000														28			12		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105161027	105161027	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:105161027C>T	uc003yls.3	+	22	3580	c.3339C>T	c.(3337-3339)atC>atT	p.I1113I	RIMS2_uc003ylp.3_Intron|RIMS2_uc003ylw.2_Silent_p.I1102I|RIMS2_uc003ylq.3_Intron|RIMS2_uc003ylr.3_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	541					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)			TGGTAGCTATCGTTGGTCTGT	0.483000										HNSCC(12;0.0054)				56			25		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95422344	95422344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95422344G>A	uc001kiu.4	+	19	2449	c.2311G>A	c.(2311-2313)Gaa>Aaa	p.E771K		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	771					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CAAAAGAGATGAATTACCTAA	0.279000														57			15		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136597593	136597593	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:136597593G>A	uc004cep.4	-	2	596	c.462C>T	c.(460-462)ttC>ttT	p.F154F	SARDH_uc004ceo.3_Silent_p.F154F|SARDH_uc011mdo.2_5'UTR|SARDH_uc011mdn.2_Silent_p.F154F	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	154					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGGACGCGATGAAGAGGCCCC	0.672000														129			66		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141609344	141609344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141609344G>A	uc002tvj.1	-	27	5560	c.4588C>T	c.(4588-4590)Cct>Tct	p.P1530S	LRP1B_uc010fnl.1_Missense_Mutation_p.P712S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1530					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCTGCACAAGGATTGGGAGCT	0.453000										TSP Lung(27;0.18)				100			35		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24873522	24873522	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:24873522G>A	uc001isb.2	-	25	6183	c.5696C>T	c.(5695-5697)tCt>tTt	p.S1899F	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1898					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGTGCTGGAAGAACTGCCTGT	0.493000														107			47		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54778665	54778665	+	Missense_Mutation	SNP	G	A	A	rs150493192	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54778665G>A	uc002qfb.3	-	13	1935	c.1669C>T	c.(1669-1671)Ccc>Tcc	p.P557S	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_3'UTR|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.P556S|LILRB2_uc010yet.2_Missense_Mutation_p.P441S	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	557					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACATCCTGGGGGGCTTCAGAT	0.637000														67			29		0	0	1	0	0
LIN9	286826	broad.mit.edu	37	1	226453307	226453307	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:226453307G>A	uc001hqa.2	-	9	1323	c.1013C>T	c.(1012-1014)cCg>cTg	p.P338L	LIN9_uc001hqb.2_Missense_Mutation_p.P303L|LIN9_uc001hqc.3_Missense_Mutation_p.P270L|LIN9_uc009xel.1_Missense_Mutation_p.P303L	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	322					DNA replication|cell cycle	nucleoplasm				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)		ACTTCTCCACGGCGACTGTCC	0.318000														50			16		0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156283289	156283289	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:156283289G>A	uc003ios.3	-	5	977	c.713C>T	c.(712-714)tCa>tTa	p.S238L	MAP9_uc011cin.2_Missense_Mutation_p.S237L|MAP9_uc010iqa.1_Non-coding_Transcript|MAP9_uc003iot.1_Missense_Mutation_p.S237L	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	238					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TGTTAAGCATGAATCCTGTTT	0.318000														59			26		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16918926	16918926	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16918926G>A	uc002neu.4	+	17	4688	c.4266G>A	c.(4264-4266)tgG>tgA	p.W1422*	NWD1_uc002net.4_Nonsense_Mutation_p.W1287*|NWD1_uc002nev.4_Nonsense_Mutation_p.W1216*|NWD1_uc021uqg.1_Nonsense_Mutation_p.W1287*	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1422							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						CACGCAAGTGGAAATTCGAGA	0.567000														51			23		0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114380799	114380799	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:114380799G>A	uc001eds.3	-	12	1353	c.1223C>T	c.(1222-1224)cCt>cTt	p.P408L	PTPN22_uc021orx.1_Missense_Mutation_p.P408L|PTPN22_uc009wgq.3_Missense_Mutation_p.P353L|PTPN22_uc021ory.1_Missense_Mutation_p.P384L|PTPN22_uc010owo.2_Missense_Mutation_p.P164L|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.P408L|PTPN22_uc009wgs.2_Missense_Mutation_p.P281L|PTPN22_uc001edu.2_Missense_Mutation_p.P408L	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	408					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCTGAAGAGGCTCCCCAAC	0.378000														99			6		0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73964105	73964105	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:73964105C>T	uc003hgp.3	-	25	4823	c.4706G>A	c.(4705-4707)aGg>aAg	p.R1569K	ANKRD17_uc003hgo.3_Missense_Mutation_p.R1456K|ANKRD17_uc003hgq.3_Missense_Mutation_p.R1318K|ANKRD17_uc003hgr.3_Missense_Mutation_p.R1568K	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1569					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTGTTTTTCCTCTTTGAACT	0.373000														106			43		0	0	1	0	0
immunoglobulin_heavy_chain	0	broad.mit.edu	37	14	107034953	107034953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:107034953C>T	uc001ysz.3	-	1	156	c.127G>A	c.(127-129)Ggt>Agt	p.G43S	abParts_uc021ser.1_Non-coding_Transcript					Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene.																		TATCCAGAACCCTTACAGGAG	0.567000														30			10		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924844	188924844	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:188924844C>T	uc003izh.1	+	3	1291	c.883C>T	c.(883-885)Cac>Tac	p.H295Y	ZFP42_uc003izi.1_Missense_Mutation_p.H295Y|ZFP42_uc021xvm.1_Missense_Mutation_p.H295Y	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	295					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CCTGAAAGCCCACATCCTAAC	0.463000														42			10		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94652133	94652133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94652133G>A	uc001dqj.4	-	15	2071	c.1702C>T	c.(1702-1704)Cca>Tca	p.P568S	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.P134S	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	568					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GGTGTTCGTGGAAGTTTTCGA	0.373000														138			68		0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36431004	36431004	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36431004C>T	uc002oco.3	+	1	1129	c.677C>T	c.(676-678)tCc>tTc	p.S226F		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.	226					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCACTCTTCTCCCGCCTGCCC	0.701000														130			50		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345121	20345121	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20345121G>A	uc001vwh.1	+	0	695	c.695G>A	c.(694-696)gGa>gAa	p.G232E		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G232R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTCCAGAGGATCATCTAAG	0.383000														142			56		0	0	1	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940217	67940217	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:67940217G>A	uc001xjk.3	-	2	834	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.L142F	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	142						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TCGAAGCGGAGGCGGAGGGTG	0.657000														41			16		0	0	1	0	0
SFTPA1	653509	broad.mit.edu	37	10	81372178	81372178	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81372178G>A	uc009xry.3	+	3	410	c.328G>A	c.(328-330)Ggc>Agc	p.G110S	SFTPA1_uc001kap.3_Missense_Mutation_p.G95S|SFTPA1_uc001kar.3_Missense_Mutation_p.G95S|SFTPA1_uc001kaq.3_Missense_Mutation_p.G95S|SFTPA1_uc001kao.3_Missense_Mutation_p.G61S|SFTPA1_uc021puu.1_Missense_Mutation_p.G46S|SFTPA1_uc010qlt.2_Missense_Mutation_p.G36S|SFTPA1_uc009xrz.3_Intron	NM_001093770	NP_005402	Q8IWL2	SFTA1_HUMAN	Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA.	95					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TGGCGAGAGGGGCCCTCCAGG	0.612000														72			103		0	0	1	0	0
C10orf62	414157	broad.mit.edu	37	10	99350007	99350007	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:99350007C>T	uc001koa.3	+	0	558	c.353C>T	c.(352-354)tCc>tTc	p.S118F	PI4K2A_uc001knx.2_Intron|PI4K2A_uc001kny.3_Intron|PI4K2A_uc001knz.3_Intron|PI4K2A_uc010qoy.1_Intron	NM_001009997	NP_001009997	Q5T681	CJ062_HUMAN	Homo sapiens chromosome 10 open reading frame 62 (C10orf62), mRNA.	118							protein binding			endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		AAAGCCCCATCCACTGATGAG	0.627000														48			26		0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160850442	160850442	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160850442G>A	uc001fxc.3	-	5	737	c.621C>T	c.(619-621)atC>atT	p.I207I		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	207	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGACCACAGGGATCACCGGGC	0.443000														164			72		0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205042351	205042351	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205042351C>T	uc001hbr.3	+	21	3269	c.3000C>T	c.(2998-3000)atC>atT	p.I1000I	CNTN2_uc001hbs.3_Silent_p.I788I	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	1000	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGTCCACATCGTGAGGAATG	0.567000														64			22		0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41298734	41298734	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:41298734T>G	uc001cgh.2	+	10	1644	c.1562T>G	c.(1561-1563)cTc>cGc	p.L521R	KCNQ4_uc001cgi.2_Missense_Mutation_p.L467R	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	521					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CAGTGTGAGCTCACGGTGGAC	0.602000														65			14		0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785747	12785747	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12785747C>T	uc009vnn.1	+	3	1070	c.837C>T	c.(835-837)ctC>ctT	p.L279L	AADACL3_uc001aug.1_Silent_p.L209L	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	279							hydrolase activity	p.K278M(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCTCAGCTCCCGGAAACCT	0.522000														89			58		0	0	1	0	0
CENPH	64946	broad.mit.edu	37	5	68492933	68492933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:68492933C>T	uc003jvp.3	+	4	455	c.368C>T	c.(367-369)tCt>tTt	p.S123F	CENPH_uc010ixc.3_Intron	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN	Homo sapiens centromere protein H (CENPH), mRNA.	123					CenH3-containing nucleosome assembly at centromere|cell division|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		AGCAGACAGTCTAGGTATGAT	0.328000														55			14		0	0	1	0	0
PHF16	9767	broad.mit.edu	37	X	46913813	46913813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:46913813C>T	uc004dgx.3	+	8	1277	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	PHF16_uc004dgy.3_Missense_Mutation_p.S409F	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	409					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GAGTTCTATTCCTTGGTACGA	0.532000														21			23		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236898958	236898958	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:236898958G>A	uc001hyf.2	+	7	925	c.721G>A	c.(721-723)Gat>Aat	p.D241N	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Intron|ACTN2_uc010pxu.1_Intron	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	241	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCCTAAACCCGATGAAAGAGC	0.537000														64			21		0	0	1	0	0
CLDN23	137075	broad.mit.edu	37	8	8560001	8560001	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:8560001G>A	uc003wsi.3	+	0	336	c.93G>A	c.(91-93)cgG>cgA	p.R31R		NM_194284	NP_919260	Q96B33	CLD23_HUMAN	Homo sapiens claudin 23 (CLDN23), mRNA.	31					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CCGGCTGGCGGCTGGTGAAGG	0.706000														11			5		0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46237647	46237648	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:46237647_46237648CC>TT	uc002rut.3	+	9	1625_1626	c.1428_1429CC>TT	c.(1426-1431)ttccag>ttTTag	p.Q477*		NM_005400	NP_005391	Q02156	KPCE_HUMAN	Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.	477	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	p.F476L(2)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			ACTGCTGCTTCCAGACCAAGGT	0.470000														67			10		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123615708	123615708	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:123615708C>T	uc010nqy.3	-	21	3887	c.3823G>A	c.(3823-3825)Gag>Aag	p.E1275K	ODZ1_uc011muj.2_Missense_Mutation_p.E1274K|ODZ1_uc004euj.3_Missense_Mutation_p.E1268K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1268					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TCTTTCGTCTCCACAAGAGAT	0.458000														72			20		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76395539	76395539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:76395539C>T	uc021rkq.1	+	13	2769	c.2434C>T	c.(2434-2436)Cct>Tct	p.P812S	LMO7_uc010thv.2_Missense_Mutation_p.P530S|LMO7_uc001vjt.1_Missense_Mutation_p.P478S|LMO7_uc001vjv.3_Missense_Mutation_p.P579S|LMO7_uc010thw.2_Missense_Mutation_p.P429S|LMO7_uc001vjw.1_Missense_Mutation_p.P485S	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	864						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AATTCAGCTTCCTTCTCAAAG	0.443000														128			8		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141752740	141752740	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141752740C>T	uc003vwy.3	+	25	3169	c.3115C>T	c.(3115-3117)Cgc>Tgc	p.R1039C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1039					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)	GAACCCCCTTCGCCTGGATGT	0.458000														57			11		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52554926	52554926	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52554926G>A	uc003dej.3	+	54	5887	c.5813G>A	c.(5812-5814)aGg>aAg	p.R1938K	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1938					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.R1938R(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTTTGGGGTAGGCCCCAAGGC	0.642000														72			16		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50052708	50052708	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:50052708C>T	uc004dox.4	+	5	1837	c.1539C>T	c.(1537-1539)acC>acT	p.T513T	CCNB3_uc004doy.3_Silent_p.T513T|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	513					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TACAGACCACCTCTGGAGAAA	0.428000														27			7		0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23019033	23019033	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:23019033C>T	uc004daj.3	+	0	956	c.859C>T	c.(859-861)Caa>Taa	p.Q287*		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	287	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TCTTGATTCTCAACCAATATC	0.418000														31			36		0	0	1	0	0
PLK1S1	55857	broad.mit.edu	37	20	21143493	21143493	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:21143493C>T	uc002wsb.3	+	5	1178	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	PLK1S1_uc010zsh.2_Missense_Mutation_p.H246Y|PLK1S1_uc010zsi.2_Missense_Mutation_p.H216Y|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Non-coding_Transcript|PLK1S1_uc002wsd.3_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	349					spindle organization	centrosome	protein kinase binding										ACTTGCAGATCATCTTGCTCA	0.443000														24			10		0	0	1	0	0
C17orf57	124989	broad.mit.edu	37	17	45451937	45451937	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:45451937C>T	uc002iln.3	+	11	1408	c.977C>T	c.(976-978)tCt>tTt	p.S326F	C17orf57_uc002ilm.3_Missense_Mutation_p.S230F|C17orf57_uc002ill.1_Missense_Mutation_p.S82F|C17orf57_uc010daz.1_Missense_Mutation_p.S278F	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	326							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						AATAGTTTGTCTTCCAAACTC	0.303000														42			29		0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898307	30898307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30898307C>T	uc002wxq.3	+	1	907	c.727C>T	c.(727-729)Ctt>Ttt	p.L243F	KIF3B_uc010ztv.2_Missense_Mutation_p.L243F|KIF3B_uc010ztw.2_Missense_Mutation_p.L243F	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	243	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAAATTGAACCTTGTAGATCT	0.512000														42			23		0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626490	49626490	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:49626490G>A	uc002xwa.4	-	1	681	c.386C>T	c.(385-387)aCc>aTc	p.T129I	KCNG1_uc002xwb.3_Missense_Mutation_p.T129I	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	129						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCGCAGGAAGGTCAGGATAGT	0.632000														61			23		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241710444	241710444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241710444G>A	uc010fzk.3	-	14	1532	c.1285C>T	c.(1285-1287)Ctc>Ttc	p.L429F	KIF1A_uc002vzy.3_Missense_Mutation_p.L420F|KIF1A_uc002vzz.2_Missense_Mutation_p.L429F	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	420					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGCTCGTGGAGGCTGGACACG	0.642000														54			30		0	0	1	0	0
RARRES3	5920	broad.mit.edu	37	11	63313703	63313703	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63313703G>A	uc001nxf.4	+	3	538	c.470G>A	c.(469-471)aGa>aAa	p.R157K		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 3 (RARRES3), mRNA.	157					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GCGATTAGGAGATACCAAAAA	0.532000														152			59		0	0	1	0	0
LOC643733	643733	broad.mit.edu	37	11	104774135	104774135	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:104774135C>T	uc021qpn.1	-	3		c.491G>A			LOC643733_uc021qpo.1_Non-coding_Transcript|LOC643733_uc001phz.3_Non-coding_Transcript					Homo sapiens caspase 4, apoptosis-related cysteine peptidase pseudogene (LOC643733), transcript variant 1, non-coding RNA.																		ATCACACTTTCATTTATTTCA	0.388000														23			8		0	0	1	0	0
FAM133A	286499	broad.mit.edu	37	X	92964696	92964696	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:92964696G>A	uc022bzw.1	+	2	715	c.278G>A	c.(277-279)aGa>aAa	p.R93K	FAM133A_uc022bzu.1_Missense_Mutation_p.R93K|FAM133A_uc004efr.2_Missense_Mutation_p.R93K|FAM133A_uc022bzv.1_Missense_Mutation_p.R93K|FAM133A_uc022bzx.1_Missense_Mutation_p.R93K	NM_001171111	NP_775969	Q8N9E0	F133A_HUMAN	Homo sapiens family with sequence similarity 133, member A (FAM133A), transcript variant 4, mRNA.	93	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						aaaagagaaagaaagaaaaag	0.318000														9			11		0	0	1	0	0
FATE1	89885	broad.mit.edu	37	X	150891136	150891136	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:150891136G>A	uc004fex.3	+	4	541	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.	153						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CGCCCTGGAGGAACAGGGCGC	0.642000														23			38		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433101	140433101	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140433101A>G	uc003lik.1	+	0	2123	c.2046A>G	c.(2044-2046)agA>agG	p.R682R		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	682					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCATTCTAGAAAGGTAAATC	0.438000														195			59		0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158617438	158617438	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:158617438G>T	uc002tzn.3	-	8	1648	c.1218C>A	c.(1216-1218)gcC>gcA	p.A406A	ACVR1_uc002tzm.3_Silent_p.A406A|ACVR1_uc010fog.2_Silent_p.A406A	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN	Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	406	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	ATP binding|SMAD binding|activin binding|follistatin binding|metal ion binding|protein homodimerization activity|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CAAGTCCAAAGGCCCAAATAT	0.458000														75			5		1.024e-07	1.02679e-07	1	1	0
CYLC1	1538	broad.mit.edu	37	X	83129493	83129493	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:83129493G>A	uc004eei.1	+	3	1798	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	CYLC1_uc004eeh.1_Missense_Mutation_p.E592K	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	593					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGAAAAAGGGGAAAAAGCAAG	0.423000														21			26		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9100123	9100123	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:9100123C>T	uc001apo.3	-	6	989	c.697_splice	c.e6+1	p.A233_splice	SLC2A5_uc010nzy.2_Splice_Site_p.A174_splice|SLC2A5_uc010nzz.2_Splice_Site_p.A118_splice|SLC2A5_uc010oaa.2_Splice_Site_p.A189_splice	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	233					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTCGTTACCTTTCTTGGCG	0.687000														26			8		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874910	80874910	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:80874910C>T	uc010ysh.2	+	17	2780	c.2775C>T	c.(2773-2775)ttC>ttT	p.F925F	CTNNA2_uc010yse.2_Silent_p.F877F|CTNNA2_uc010ysf.2_Silent_p.F877F|CTNNA2_uc010ysg.2_Silent_p.F832F|CTNNA2_uc010ysi.2_Silent_p.F509F|CTNNA2_uc010ysj.2_Silent_p.F206F	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	925					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTGAAGAATTCCAGACACGAG	0.458000														189			49		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171264339	171264339	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:171264339C>T	uc002ufy.3	+	21	2778	c.2635C>T	c.(2635-2637)Cct>Tct	p.P879S	MYO3B_uc002ufv.3_Missense_Mutation_p.P866S|MYO3B_uc010fqb.1_Missense_Mutation_p.P879S|MYO3B_uc002ufz.3_Missense_Mutation_p.P879S|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	879	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTTCTCAATCCCTCTGACCAA	0.463000														148			57		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166961934	166961934	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:166961934G>A	uc001gdy.1	+	3	408	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	MAEL_uc021peh.1_Missense_Mutation_p.G57S|MAEL_uc001gdz.1_Missense_Mutation_p.G82S|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	113					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TCTCCTTGGAGGCATTTTTTA	0.353000														47			21		0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51100335	51100335	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51100335C>T	uc001rwv.3	+	20	2577	c.2421C>T	c.(2419-2421)ttC>ttT	p.F807F	DIP2B_uc009zlt.3_Silent_p.F237F	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	807						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GTTTGGTGTTCGTGGTTGGGA	0.363000														95			38		0	0	1	0	0
ANKRD20A3	441425	broad.mit.edu	37	9	67938622	67938622	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:67938622G>A	uc004aeu.3	+	5	869	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	ANKRD20A3_uc010mnn.3_Missense_Mutation_p.E253K	NM_001012419	NP_115626	Q5VUR7	A20A3_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A3 (ANKRD20A3), mRNA.	253																	ACAAATTTTGGAACATAAAAA	0.244000														27			5		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50857597	50857597	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50857597G>A	uc001jhz.2	+	9	1579	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	CHAT_uc001jhv.1_Missense_Mutation_p.E358K|CHAT_uc001jhx.1_Missense_Mutation_p.E358K|CHAT_uc001jhy.1_Missense_Mutation_p.E358K|CHAT_uc001jia.2_Missense_Mutation_p.E394K|CHAT_uc010qgs.1_Missense_Mutation_p.E358K	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	476					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CTCCGTCAGCGAGCTCCCCGC	0.617000														68			16		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54792313	54792313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:54792313G>A	uc003pck.3	+	3	733	c.617G>A	c.(616-618)cGa>cAa	p.R206Q		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	206								p.R206*(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TAGAATATTCGAGTGCGAACA	0.303000														86			16		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110819517	110819517	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:110819517G>A	uc001vqw.4	-	43	4059	c.3937C>T	c.(3937-3939)Cca>Tca	p.P1313S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1313	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGAAATCCTGGAACTCCTGGA	0.527000														160			54		0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10689791	10689791	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:10689791G>A	uc002kos.2	-	44	7194	c.7020C>T	c.(7018-7020)ctC>ctT	p.L2340L	PIEZO2_uc002koq.3_Silent_p.L195L	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2340						integral to membrane	ion channel activity										AAAAGGGCACGAGGCGAAACC	0.562000														53			16		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814675	106814675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:106814675G>A	uc003ymd.3	+	7	2388	c.2365G>A	c.(2365-2367)Gat>Aat	p.D789N	ZFPM2_uc011lhs.2_Missense_Mutation_p.D520N	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	789					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCAAGATGTGATATCTTTCC	0.438000														26			12		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125109512	125109512	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:125109512G>A	uc003yqw.3	+	36	4902	c.4696_splice	c.e36-1	p.G1566_splice	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1566						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTTAACAAGGGCCGCCTGCA	0.453000														113			10		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74003240	74003240	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74003240C>T	uc010wss.1	-	21	6340	c.6112G>A	c.(6112-6114)Gag>Aag	p.E2038K	EVPL_uc002jqi.2_Missense_Mutation_p.E2016K|EVPL_uc010wst.1_Missense_Mutation_p.E1486K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	2016					keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGGTACCCCTCCAGTGCCGCT	0.692000														49			26		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141597566	141597566	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141597566G>A	uc002tvj.1	-	30	6175	c.5203C>T	c.(5203-5205)Cca>Tca	p.P1735S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1735					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTACCAACTGGCTCCTTCTGA	0.328000										TSP Lung(27;0.18)				28			6		0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53421577	53421577	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53421577C>T	uc001sbh.4	+	6	885	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	EIF4B_uc009zmp.1_Non-coding_Transcript|EIF4B_uc010snu.2_Missense_Mutation_p.R227C|EIF4B_uc010snv.2_Missense_Mutation_p.R188C	NM_001417	NP_001408	P23588	IF4B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.	227	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	p.R227C(2)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GTATCGAGATCGTTATGATTC	0.483000														133			22		0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130319437	130319437	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:130319437C>T	uc010scd.2	+	0	569	c.569C>T	c.(568-570)cCt>cTt	p.P190L		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	190					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P190S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCCCTGGACCCTTACAAGCCG	0.726000														5			5		0	0	1	0	0
WFDC8	90199	broad.mit.edu	37	20	44184463	44184463	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44184463C>T	uc002xow.3	-	3	401	c.322G>A	c.(322-324)Gca>Aca	p.A108T	WFDC8_uc002xox.3_Missense_Mutation_p.A108T	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	108	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CAGCGCTGTGCCTCATGATTA	0.463000														76			26		0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145642042	145642042	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145642042C>T	uc003zcq.3	-	0	232	c.132G>A	c.(130-132)ctG>ctA	p.L44L	SLC39A4_uc003zco.3_5'Flank|SLC39A4_uc003zcp.3_5'Flank	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	44						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			ACAGGCCGCCCAGAGCCTCTT	0.677000														17			5		0	0	1	0	0
PYROXD1	79912	broad.mit.edu	37	12	21614955	21614955	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21614955C>T	uc001rew.3	+	8	1021	c.894C>T	c.(892-894)gtC>gtT	p.V298V	PYROXD1_uc009ziq.3_Silent_p.V39V	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 1 (PYROXD1), mRNA.	298							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						TGTGGCCTGTCTATGTGGAAT	0.368000														48			27		0	0	1	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202446936	202446936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:202446936G>A	uc002uyf.3	-	4	573	c.521C>T	c.(520-522)cCc>cTc	p.P174L	ALS2CR11_uc002uye.3_Missense_Mutation_p.P174L|ALS2CR11_uc010fti.3_Missense_Mutation_p.P174L|ALS2CR11_uc021vvc.1_Missense_Mutation_p.P174L	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	174										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						ATAACGTCTGGGAACCTCAAT	0.289000														78			24		0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55069580	55069580	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55069580C>T	uc001cxm.2	+	10	1298	c.1122C>T	c.(1120-1122)ccC>ccT	p.P374P	ACOT11_uc001cxj.2_Silent_p.P252P|ACOT11_uc001cxl.2_Silent_p.P374P	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	374					fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CAGAGGTGCCCCTCTCCGTCC	0.577000														76			33		0	0	1	0	0
TMEM133	83935	broad.mit.edu	37	11	100863262	100863262	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:100863262C>T	uc001pgf.3	+	0	452	c.223C>T	c.(223-225)Cct>Tct	p.P75S		NM_032021	NP_114410	Q9H2Q1	TM133_HUMAN	Homo sapiens transmembrane protein 133 (TMEM133), mRNA.	75						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		CATTCTGTGTCCTGCCTGTCT	0.378000														186			41		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111239	7111239	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7111239G>A	uc001mfc.2	+	0	1075	c.888G>A	c.(886-888)cgG>cgA	p.R296R		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	296	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding	p.G295G(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCCCAGGACGGGGGACACCGC	0.662000														29			13		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54914569	54914569	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54914569G>A	uc021smr.1	+	28	6145	c.6145G>A	c.(6145-6147)Gac>Aac	p.D2049N	UNC13C_uc021sms.1_Missense_Mutation_p.D2051N|UNC13C_uc002acm.3_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2051	C2 2.				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)		TGTTCATGTGGACATCACTGC	0.443000														65			32		0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778336	31778337	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31778336_31778337CC>TT	uc003nxh.3	-	1	1596_1597	c.1413_1414GG>AA	c.(1411-1416)agggga>agAAga	p.G472R	HSPA1L_uc010jte.3_Missense_Mutation_p.G472R|HSPA1L_uc021yuz.1_Missense_Mutation_p.G472R	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	472					response to unfolded protein		ATP binding	p.R471R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGAGGAACTCCCCTGGGTGCTG	0.554000														103			44		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230456299	230456299	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:230456299C>T	uc002vpv.3	-	1	729	c.582G>A	c.(580-582)gtG>gtA	p.V194V		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	194					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TTCTCACCTCCACTTGATCCC	0.428000														38			14		0	0	1	0	0
PPT1	5538	broad.mit.edu	37	1	40555169	40555170	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:40555169_40555170GG>AA	uc001cfb.2	-	4	680_681	c.448_449CC>TT	c.(448-450)cct>TTt	p.P150F	PPT1_uc010ojf.1_Missense_Mutation_p.P100F|PPT1_uc010ojg.1_Missense_Mutation_p.P47F|PPT1_uc009vwa.2_Non-coding_Transcript	NM_000310	NP_000301	P50897	PPT1_HUMAN	Homo sapiens palmitoyl-protein thioesterase 1 (PPT1), transcript variant 1, mRNA.	150					DNA fragmentation involved in apoptotic nuclear change|brain development|cofactor metabolic process|cofactor transport|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	Golgi apparatus|axon|cytosol|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity	p.P150H(2)		endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGGCATCGAGGGAGTCCAAAA	0.441000														68			18		0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104184165	104184165	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104184165C>T	uc004bbk.2	-	8	1103	c.1021G>A	c.(1021-1023)Gga>Aga	p.G341R		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	341					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ACATACTGTCCTTTGGCCGCC	0.542000														52			8		0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82644813	82644813	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:82644813C>T	uc001ozt.3	+	5	2677	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F	C11orf82_uc010rsr.2_Silent_p.F510F|C11orf82_uc010rss.2_Silent_p.F510F|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	811					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TAAGGATTTTCCCTGAAAATG	0.368000														32			14		0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	50097645	50097645	+	Missense_Mutation	SNP	C	T	T	rs148913753		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:50097645C>T	uc003tou.3	-	3	497	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	ZPBP_uc010kyw.3_Missense_Mutation_p.E142K	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	143					binding of sperm to zona pellucida	extracellular region		p.L142L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GGTTTATATTCGAGGAAACAT	0.328000														63			19		0	0	1	0	0
TPSB2	64499	broad.mit.edu	37	16	1279235	1279235	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1279235C>T	uc002cky.3	-	4	478	c.455G>A	c.(454-456)gGg>gAg	p.G152E	TPSB2_uc010brk.1_Non-coding_Transcript|TPSB2_uc002ckx.3_5'UTR	NM_024164	NP_077078	P20231	TRYB2_HUMAN	Homo sapiens tryptase beta 2 (gene/pseudogene) (TPSB2), mRNA.	152	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				GCACGGCATCCCCGGGGGGGA	0.682000														9			6		0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52476875	52476875	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52476875G>A	uc003dea.1	-	1	164	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	55	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity	p.S55C(2)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GAGGTTCAGGGAGCCCTGGGG	0.622000														9			5		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107430068	107430068	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107430068G>A	uc003ver.2	-	5	847	c.636C>T	c.(634-636)ggC>ggT	p.G212G	SLC26A3_uc003ves.2_Silent_p.G177G	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	212					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CAGTAGTGAAGCCACTGATGA	0.423000														37			7		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	17990868	17990868	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17990868G>A	uc010gqw.1	+	6	768	c.768G>A	c.(766-768)aaG>aaA	p.K256K	CECR2_uc010gqv.1_Silent_p.K135K|CECR2_uc002zml.2_Silent_p.K135K|CECR2_uc002zmm.1_Intron	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	298					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGCGCACAAAGGCAGAGTTGC	0.493000														174			14		0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29782870	29782870	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29782870G>A	uc002kxj.4	+	5	312	c.265G>A	c.(265-267)Gga>Aga	p.G89R		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	89	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GAATGCTAAGGGAGTTATCCT	0.363000														19			5		0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479590	4479590	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4479590C>T	uc001qmq.1	-	2	821	c.675G>A	c.(673-675)ggG>ggA	p.G225G		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	225					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CCCTGACCACCCCTAATGGGT	0.697000														43			14		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118574371	118574371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:118574371C>T	uc001ehk.2	-	24	3621	c.3553G>A	c.(3553-3555)Gaa>Aaa	p.E1185K		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1185						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTGGGTTTTTCTTTGCCTTTT	0.383000														126			29		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55782888	55782888	+	Missense_Mutation	SNP	G	A	A	rs34553661		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	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)				47			18		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995378	140995378	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140995378C>T	uc004fbt.3	+	3	2512	c.2188C>T	c.(2188-2190)Cct>Tct	p.P730S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P389S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	730							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)					TCCTCAGTTTCCTCCTCAGGG	0.547000										HNSCC(15;0.026)				71			65		0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66136562	66136562	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66136562G>A	uc001oht.3	-	3	613	c.384C>T	c.(382-384)tcC>tcT	p.S128S	SLC29A2_uc009yrf.3_Silent_p.S8S|SLC29A2_uc001ohu.3_Silent_p.S128S|SLC29A2_uc001ohv.3_Silent_p.S128S|AX747485_uc001ohw.1_Non-coding_Transcript	NM_001532	NP_001523	Q14542	S29A2_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 2 (SLC29A2), mRNA.	128					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						CCATGGTGATGGAGAAGAAGG	0.607000														5			3		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	157999191	157999191	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:157999191G>A	uc003ipj.2	+	1	217	c.15G>A	c.(13-15)ttG>ttA	p.L5L	GLRB_uc021xtp.1_Silent_p.L5L|GLRB_uc021xtq.1_Silent_p.L5L	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	5					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	AGTTTTTATTGACAACTGCCT	0.313000														43			7		0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134158754	134158754	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:134158754G>A	uc009zdf.3	+	6	1059	c.699G>A	c.(697-699)aaG>aaA	p.K233K	GLB1L3_uc010scs.2_Silent_p.K233K|GLB1L3_uc010sct.2_Silent_p.K85K	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	233					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CATTCAATAAGGATAAAACAT	0.498000														24			3		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149878254	149878254	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:149878254C>T	uc001etg.3	-	10	2324	c.1833G>A	c.(1831-1833)ggG>ggA	p.G611G	SV2A_uc009wlk.3_Silent_p.G63G|SV2A_uc001eth.2_Silent_p.G611G	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	611				G -> R (in Ref. 3; BAC11645).	neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ACACGATATTCCCAGGAAGCA	0.577000														75			17		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539929	94539929	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94539929G>A	uc003unp.3	+	1	786	c.504G>A	c.(502-504)ggG>ggA	p.G168G	PPP1R9A_uc010lfj.3_Silent_p.G168G|PPP1R9A_uc011kif.2_Silent_p.G168G|PPP1R9A_uc003unq.3_Silent_p.G168G|PPP1R9A_uc011kig.2_Silent_p.G168G	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	168						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)			AAGCTGGAGGGAGTGAACCTC	0.493000										HNSCC(28;0.073)				55			35		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10420095	10420095	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10420095C>T	uc003bvt.3	-	10	1482	c.1043_splice	c.e10-1	p.A348_splice	ATP2B2_uc003bvv.3_Splice_Site_p.A303_splice|ATP2B2_uc003bvw.3_Splice_Site_p.A303_splice|ATP2B2_uc010hdo.3_Splice_Site_p.A53_splice	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	348					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGTTGTTTGGCTGCAGGGGGC	0.632000														65			25		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89391132	89391132	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:89391132C>T	uc003dqy.3	+	4	1423	c.1198C>T	c.(1198-1200)Ctg>Ttg	p.L400L	EPHA3_uc003dqx.1_Silent_p.L400L|EPHA3_uc021xbf.1_Silent_p.L400L	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	400	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GACAGACCTTCTGGCACATAC	0.507000										TSP Lung(6;0.00050)				54			26		0	0	1	0	0
C16orf71	146562	broad.mit.edu	37	16	4787833	4787833	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:4787833C>T	uc002cxn.3	+	2	624	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	54										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGTTCATCTTCCAGCGAAACC	0.597000														66			27		0	0	1	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38413338	38413338	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:38413338G>A	uc004aba.3	-	2	606	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_001007563	NP_001007564	Q8WX77	IBPL1_HUMAN	Homo sapiens insulin-like growth factor binding protein-like 1 (IGFBPL1), mRNA.	195	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		GTGCCCTCAGGGGACTTCGTG	0.577000														56			12		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128845	6128845	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6128845G>A	uc001qnn.1	-	27	3989	c.3739C>T	c.(3739-3741)Ccc>Tcc	p.P1247S	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1247					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCATCTGTGGGAGGCACCACC	0.567000														24			13		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39039051	39039051	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39039051C>T	uc002oit.3	+	88	12403	c.12273C>T	c.(12271-12273)gaC>gaT	p.D4091D	RYR1_uc002oiu.3_Silent_p.D4086D|RYR1_uc002oiv.1_Silent_p.D1000D	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4091					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCAAGAAGGACTTCCAGAAGG	0.572000														69			40		0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4855892	4855892	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:4855892C>T	uc003snj.1	-	7	2106	c.1933G>A	c.(1933-1935)Ggg>Agg	p.G645R	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_Missense_Mutation_p.G150R|RADIL_uc011jwc.1_Missense_Mutation_p.G405R|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	645	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGCAGTGTCCCGGAGAAGAAG	0.657000														39			9		0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14722227	14722227	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:14722227G>A	uc003zlj.3	-	0	489	c.444C>T	c.(442-444)gtC>gtT	p.V148V		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	148					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TGGGCAAGATGACCCCCTGAG	0.493000														79			9		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356895	42356895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:42356895C>T	uc001wvm.3	+	2	2265	c.1067C>T	c.(1066-1068)aCc>aTc	p.T356I	LRFN5_uc010ana.3_Missense_Mutation_p.T356I	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	356	Ig-like.					integral to membrane		p.F355L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGTGCTTTTACCTGCATTGCT	0.393000										HNSCC(30;0.082)				91			43		0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88478074	88478074	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:88478074G>A	uc021rxh.1	+	0	883	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	GPR65_uc001xvv.3_Missense_Mutation_p.E295K	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	295					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTTTGTAACCGAAACAGGAAG	0.353000														55			10		0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95847290	95847290	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:95847290C>T	uc002suf.3	+	4	1179	c.717C>T	c.(715-717)ttC>ttT	p.F239F	ZNF2_uc002sug.3_Silent_p.F197F|ZNF2_uc010yue.2_Silent_p.F201F|ZNF2_uc010fhs.3_Silent_p.F159F	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CAAAAGCCTTCTTTGACCGTT	0.522000														131			16		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66914311	66914311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:66914311C>T	uc002jhq.3	-	15	2264	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	ABCA8_uc002jhp.3_Missense_Mutation_p.E602K|ABCA8_uc010wqq.2_Missense_Mutation_p.E642K|ABCA8_uc010wqr.2_Missense_Mutation_p.E581K|ABCA8_uc002jhr.3_Missense_Mutation_p.E642K	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	602	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A642V(1)|p.A642A(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCAGTTGGTTCATCCAACAGG	0.403000														60			9		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527037	23527037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:23527037G>A	uc003jgo.3	+	10	2022	c.1840G>A	c.(1840-1842)Ggg>Agg	p.G614R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	614					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.G614W(2)		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						CAGGGAGTGTGGGCGGGGCTT	0.622000										HNSCC(3;0.000094)				73			12		0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	160025566	160025566	+	Missense_Mutation	SNP	G	A	A	rs140972476		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:160025566G>A	uc021xgr.1	-	8	1007	c.961C>T	c.(961-963)Cgt>Tgt	p.R321C	IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Missense_Mutation_p.R184C|IFT80_uc021xgq.1_Missense_Mutation_p.R319C|IFT80_uc003fde.2_Missense_Mutation_p.R184C|IFT80_uc003fdd.2_Missense_Mutation_p.R4C	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	321						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGAACATTACGAACCTAAACA	0.289000														30			8		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110477348	110477348	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:110477348G>A	uc001pkz.1	-	9	1186	c.901C>T	c.(901-903)Cga>Tga	p.R301*	ARHGAP20_uc001pky.1_Nonsense_Mutation_p.R278*|ARHGAP20_uc009yyb.1_Nonsense_Mutation_p.R265*|ARHGAP20_uc001pla.1_Nonsense_Mutation_p.R265*	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	301					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGCATCTCTCGGGGGAGCTGT	0.542000														200			94		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39091507	39091507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39091507G>A	uc003xmt.4	+	15	1969	c.1724G>A	c.(1723-1725)cGa>cAa	p.R575Q	ADAM32_uc011lch.2_Missense_Mutation_p.R476Q|ADAM32_uc003xmu.4_Missense_Mutation_p.R469Q|ADAM32_uc003xmv.3_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	575					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.R574Q(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GCTTTCGTACGAGATTCTGTA	0.393000														5			4		0	0	1	0	0
H2BFM	286436	broad.mit.edu	37	X	103294884	103294884	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:103294884C>T	uc004els.2	+	0	369	c.341C>T	c.(340-342)tCc>tTc	p.S114F		NM_001164416	NP_001157888			Homo sapiens H2B histone family, member M (H2BFM), mRNA.											endometrium(1)|lung(1)|ovary(1)	3						ACCATCACCTCCCGGGACATC	0.617000														5			5		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519885	69519885	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69519885G>A	uc021xow.1	-	4	1341	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	395					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GCAAACAAGGGAATGCCCACC	0.463000														254			27		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10083645	10083645	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10083645G>A	uc002mmq.1	-	50	3810	c.3724C>T	c.(3724-3726)Ccc>Tcc	p.P1242S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1242	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)			TTGCCTGGGGGTCCAGCAGCT	0.612000														25			5		0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11289038	11289038	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11289038G>A	uc002mqm.3	-	3	1606	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	KANK2_uc021upe.1_Silent_p.F501F|KANK2_uc002mqo.4_Silent_p.F501F|KANK2_uc002mqp.1_Silent_p.F310F	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	501										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGACCCCCACGAACTGGAGGC	0.647000														16			13		0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060402	144060402	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:144060402G>A	uc003wel.3	+	1	758	c.640G>A	c.(640-642)Gag>Aag	p.E214K	ARHGEF5_uc003wek.3_Missense_Mutation_p.E214K	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	214					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCCACCTGAGGAGCTGCAGGA	0.557000														218			46		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824431	74824431	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:74824431C>T	uc021rwl.1	+	0	945	c.945C>T	c.(943-945)tcC>tcT	p.S315S	VRTN_uc001xpw.4_Silent_p.S315S	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	315					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						CCCGCTTCTCCGCCAAGCACT	0.632000														75			25		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23803392	23803392	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:23803392C>T	uc003gqs.3	-	11	2374	c.2254G>A	c.(2254-2256)Gga>Aga	p.G752R	PPARGC1A_uc003gqt.3_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	752	RRM.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGCTTGCGTCCACAAAAGTAC	0.398000														49			8		0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162270444	162270444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:162270444G>A	uc001gbv.2	+	3	679	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	NOS1AP_uc010pkr.1_Missense_Mutation_p.E93K|NOS1AP_uc001gbw.2_Missense_Mutation_p.E93K|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	98	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GCAGAAAAAGGAATGGACGTG	0.478000														97			32		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143049029	143049029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143049029G>A	uc003wcr.1	+	22	3025	c.2938G>A	c.(2938-2940)Gag>Aag	p.E980K	CLCN1_uc011ktc.1_Missense_Mutation_p.E592K	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	980					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATCCACAGACGAGGAGGATGA	0.622000														96			27		0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31091248	31091248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31091248C>T	uc003aiy.1	+	0	456	c.352C>T	c.(352-354)Ccc>Tcc	p.P118S	OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Missense_Mutation_p.P118S|OSBP2_uc011alb.1_Missense_Mutation_p.P118S|OSBP2_uc003aiz.1_Missense_Mutation_p.P118S	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	118					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGGGGCTGGGCCCTTCACTAA	0.687000														49			27		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70938397	70938397	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70938397C>T	uc001swb.4	-	19	4810	c.4780G>A	c.(4780-4782)Gaa>Aaa	p.E1594K	PTPRB_uc010sto.2_Missense_Mutation_p.E1504K|PTPRB_uc010stp.2_Missense_Mutation_p.E1504K|PTPRB_uc001swc.4_Missense_Mutation_p.E1812K|PTPRB_uc001swa.4_Missense_Mutation_p.E1724K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1594					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTTGTGAATTCCTTCAGGTCC	0.363000														46			12		0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17446091	17446091	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:17446091C>T	uc002wpm.3	+	10	1677	c.1323C>T	c.(1321-1323)ctC>ctT	p.L441L	PCSK2_uc002wpl.3_Silent_p.L422L|PCSK2_uc010zrm.2_Silent_p.L406L|PCSK2_uc002wpn.3_Silent_p.L95L	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	441					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTAATCACCTCTTTGGCTACG	0.557000														40			16		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50235567	50235567	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:50235567C>T	uc002xwg.1	-	19	2131	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K	ATP9A_uc010gih.1_Missense_Mutation_p.E575K|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	711					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGGTGAGCCTCCCCGCGGTTG	0.592000														36			13		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149481113	149481113	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149481113G>A	uc010lpk.3	+	17	2595	c.2595G>A	c.(2593-2595)ggG>ggA	p.G865G	SSPO_uc010lpl.1_Silent_p.G200G	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	865	TIL 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTCCTCTGGGGCTGCTGTGGG	0.642000														16			6		0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20149272	20149272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:20149272C>T	uc002gwq.3	+	7	2495	c.2385C>T	c.(2383-2385)gtC>gtT	p.V795V	SPECC1_uc002gws.3_Silent_p.V795V|SPECC1_uc002gwv.3_Silent_p.V714V|SPECC1_uc010vzf.2_Silent_p.V135V	NM_001243439	NP_001230368	Q5M775	CYTSB_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA.	795						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CCTCTGAGGTCGATGCTGCTG	0.502000														38			22		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108076871	108076871	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108076871C>T	uc003dwz.3	+	5	1280	c.866C>T	c.(865-867)tCa>tTa	p.S289L	HHLA2_uc011bhl.2_Missense_Mutation_p.S225L|HHLA2_uc010hpu.3_Missense_Mutation_p.S289L|HHLA2_uc003dwy.4_Missense_Mutation_p.S289L	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	289	Ig-like V-type 2.					integral to membrane		p.F288L(1)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCCCGATTCTCATGGAACAAA	0.373000														166			44		0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172479429	172479429	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:172479429G>A	uc003fii.2	+	6	759	c.621G>A	c.(619-621)atG>atA	p.M207I	ECT2_uc010hwv.1_Missense_Mutation_p.M238I|ECT2_uc003fih.2_Missense_Mutation_p.M206I|ECT2_uc003fij.1_Missense_Mutation_p.M207I|ECT2_uc003fik.1_Missense_Mutation_p.M207I|ECT2_uc003fil.1_Missense_Mutation_p.M238I	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	207	BRCT 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CTCCAATTATGAAGCCAGAAT	0.323000														93			38		0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36348040	36348040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36348040C>T	uc002ocb.4	+	0	231	c.19C>T	c.(19-21)Ccc>Tcc	p.P7S	KIRREL2_uc002obz.4_Missense_Mutation_p.P7S|KIRREL2_uc002oca.4_Missense_Mutation_p.P7S|KIRREL2_uc002ocd.4_Missense_Mutation_p.P4S	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	7					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GATGCGGGTCCCCGCCCTCCT	0.632000														47			20		0	0	1	0	0
RASSF4	83937	broad.mit.edu	37	10	45479473	45479473	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:45479473G>A	uc001jbp.3	+	3	1927	c.378G>A	c.(376-378)aaG>aaA	p.K126K	RASSF4_uc001jbo.3_Silent_p.K95K|RASSF4_uc009xmn.3_Silent_p.K25K|RASSF4_uc001jbq.3_Intron|RASSF4_uc001jbt.3_Silent_p.K52K			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	95					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTTTCAGAAAGGAGCCATCGC	0.602000														7			3		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72346877	72346877	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:72346877C>T	uc002llw.2	+	0	3955	c.3902C>T	c.(3901-3903)cCc>cTc	p.P1301L	ZNF407_uc010xfc.2_Missense_Mutation_p.P1301L|ZNF407_uc010dqu.2_Missense_Mutation_p.P1301L|ZNF407_uc002llu.2_Missense_Mutation_p.P1300L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAAGAAGATCCCGTTCTGGGG	0.448000														32			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140174612	140174612	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140174612C>T	uc003lhd.2	+	0	169	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.L21L|PCDHAC2_uc011czy.2_Silent_p.L21L	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	34					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)			TTCTGCTCCTCGCAGCCTGGG	0.622000														74			28		0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70713498	70713498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:70713498G>A	uc003heo.3	-	5	622	c.509C>T	c.(508-510)tCc>tTc	p.S170F		NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	170					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TTTATACCAGGAACCATAAGG	0.368000														83			25		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21489199	21489199	+	Silent	SNP	C	T	T	rs142459106		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:21489199C>T	uc002kuq.3	+	54	7184	c.7098C>T	c.(7096-7098)atC>atT	p.I2366I	LAMA3_uc002kur.3_Silent_p.I2310I|LAMA3_uc002kus.4_Silent_p.I757I|LAMA3_uc002kut.4_Silent_p.I701I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2366	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGGAAACATCTCTGACAACA	0.458000														86			28		0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229738200	229738200	+	Silent	SNP	G	A	A	rs143676179		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:229738200G>A	uc001htq.3	-	3	880	c.714C>T	c.(712-714)gcC>gcT	p.A238A	TAF5L_uc001htr.3_Silent_p.A238A	NM_014409	NP_055224	O75529	TAF5L_HUMAN	Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA.	238					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				AGACCTCTAGGGCAGCCTCGT	0.552000														109			11		0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83948952	83948952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:83948952C>T	uc002fgz.3	+	4	1360	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F		NM_012213	NP_036345	O95822	DCMC_HUMAN	Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA.	447					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						ATCACCGGCTCCTGCGGCCTG	0.627000														61			26		0	0	1	0	0
SLC17A9	63910	broad.mit.edu	37	20	61588800	61588800	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61588800G>A	uc002yea.4	+	2	449	c.265G>A	c.(265-267)Ggt>Agt	p.G89S	SLC17A9_uc002ydz.4_Missense_Mutation_p.G83S|SLC17A9_uc011aap.1_Missense_Mutation_p.G109S	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	89					exocytosis|transmembrane transport	integral to membrane	transporter activity	p.G89G(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CAGGATTGGGGGTGAGAAGGT	0.642000														55			25		0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447414	24447415	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24447414_24447415GG>AA	uc001biq.2	-	6	1808_1809	c.1605_1606CC>TT	c.(1603-1608)tccctt>tcTTtt	p.L536F	IL22RA1_uc010oeg.1_Missense_Mutation_p.L468F|IL22RA1_uc009vrb.2_Missense_Mutation_p.L400F|IL22RA1_uc010oeh.2_3'UTR	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	536						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GGACACACAAGGGACTCCAGCA	0.614000														77			6		0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	7012458	7012458	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:7012458C>T	uc011bwg.2	+	10	1676	c.1597C>T	c.(1597-1599)Ctt>Ttt	p.L533F	TBC1D14_uc003gjs.4_Missense_Mutation_p.L533F|TBC1D14_uc010idh.3_Missense_Mutation_p.L253F|TBC1D14_uc011bwh.2_Missense_Mutation_p.L180F|TBC1D14_uc003gju.4_Missense_Mutation_p.L24F	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	533	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CTTTTCTAACCTTCTGAATAA	0.458000														123			47		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299276	58299276	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:58299276G>A	uc001vhq.1	+	3	4220	c.3328G>A	c.(3328-3330)Gat>Aat	p.D1110N	PCDH17_uc010aec.1_Missense_Mutation_p.D1109N|PCDH17_uc001vhr.1_Missense_Mutation_p.D199N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1110					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R1109R(1)|p.R1109W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGCCAGCCGGGATTCCAGTGA	0.517000														168			53		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53664532	53664532	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53664532C>T	uc001sck.2	+	4	1410	c.1319C>T	c.(1318-1320)gCc>gTc	p.A440V	ESPL1_uc001scj.2_Missense_Mutation_p.A115V	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	440					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATGCTGGAGGCCTTAGAGGGC	0.552000														76			33		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103352543	103352543	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:103352543C>T	uc001dum.3	-	62	5032	c.4714G>A	c.(4714-4716)Ggc>Agc	p.G1572S	COL11A1_uc001duk.3_Missense_Mutation_p.G756S|COL11A1_uc001dul.3_Missense_Mutation_p.G1560S|COL11A1_uc001dun.3_Missense_Mutation_p.G1521S|COL11A1_uc009weh.3_Missense_Mutation_p.G1444S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1560					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	p.G1572C(2)|p.G1560C(1)		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)		GCTTGCATGCCTTCAGTATGT	0.393000														127			48		0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606482	55606482	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55606482G>A	uc010rio.2	+	0	255	c.255G>A	c.(253-255)gtG>gtA	p.V85V		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGATGCTGGTGAACCTGGTTG	0.393000														240			107		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41203238	41203238	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41203238C>T	uc003jmk.2	-	1	305	c.95G>A	c.(94-96)tGg>tAg	p.W32*	C6_uc003jml.1_Nonsense_Mutation_p.W32*	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	32	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				GCAGCTGGTCCACTGAGTCCA	0.507000														244			22		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12969363	12969363	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12969363G>A	uc002mvm.3	+	11	1304	c.1176G>A	c.(1174-1176)cgG>cgA	p.R392R	MAST1_uc021upp.1_Silent_p.R216R	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	392	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACCTGGTGCGGCACCGCGACA	0.657000														57			21		0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19592859	19592859	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19592859G>A	uc002dgn.2	+	6	838	c.523G>A	c.(523-525)Gag>Aag	p.E175K	C16orf62_uc002dgo.2_Missense_Mutation_p.E264K|C16orf62_uc002dgp.2_5'UTR|C16orf62_uc010vas.2_Non-coding_Transcript|C16orf62_uc002dgm.2_Missense_Mutation_p.E264K	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	175						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTCCCAAAAGGAGCTGTTGAA	0.493000														157			39		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110826298	110826298	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:110826298C>T	uc001vqw.4	-	39	3576	c.3454G>A	c.(3454-3456)Gag>Aag	p.E1152K		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1152	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGCCTGGCTCCCCTTTCTGG	0.587000														43			15		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123987394	123987394	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:123987394G>A	uc001lfv.3	+	13	8127	c.7767G>A	c.(7765-7767)gcG>gcA	p.A2589A	TACC2_uc001lfw.3_Silent_p.A735A|TACC2_uc009xzx.3_Silent_p.A2544A|TACC2_uc010qtv.2_Silent_p.A2593A|TACC2_uc001lfx.3_Silent_p.A293A|TACC2_uc001lfy.3_Silent_p.A289A|TACC2_uc001lfz.3_Silent_p.A667A|TACC2_uc001lga.3_Silent_p.A667A|TACC2_uc009xzy.3_Silent_p.A679A|TACC2_uc001lgb.3_Silent_p.A624A	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2589						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)				ACACTGCTGCGAAAAACCAGC	0.522000														101			52		0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27081176	27081176	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:27081176C>T	uc001rhk.4	-	4	1083	c.546G>A	c.(544-546)acG>acA	p.T182T	ASUN_uc010sjk.2_Silent_p.T81T	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.	182					cell division|mitosis|regulation of mitotic cell cycle		protein binding										GTTCATGAATCGTTTCCTGGA	0.294000														84			11		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740790	110740790	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110740790C>T	uc009wfq.3	+	11	2369	c.1908C>T	c.(1906-1908)ttC>ttT	p.F636F		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	636					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTGTGGTGTTCGTCCTGCGGC	0.607000														30			12		0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46148504	46148504	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:46148504A>G	uc001jcp.4	-	2	430	c.188T>C	c.(187-189)aTt>aCt	p.I63T	ZFAND4_uc001jcm.4_Missense_Mutation_p.I63T|ZFAND4_uc009xmu.3_5'UTR|ZFAND4_uc001jcn.4_5'UTR|ZFAND4_uc001jco.4_Missense_Mutation_p.I63T|ZFAND4_uc001jcq.2_Non-coding_Transcript|ZFAND4_uc001jcr.2_Missense_Mutation_p.I63T	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	63	Ubiquitin-like.						zinc ion binding										ACAGATGGGAATACCTTAAGG	0.303000														71			22		0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15567435	15567435	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15567435G>A	uc002nbe.2	-	9	1540	c.1454C>T	c.(1453-1455)aCt>aTt	p.T485I	RASAL3_uc002nbd.3_5'Flank	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	485	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CAGCTCCGCAGTGCCCAGGTC	0.607000														17			7		0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44289073	44289073	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:44289073G>A	uc001myb.3	-	2	981	c.877C>T	c.(877-879)Ctc>Ttc	p.L293F		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	Homo sapiens ALX homeobox 4 (ALX4), mRNA.	293					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CGGGTGAGGAGGGGCAGCTCA	0.622000														18			20		0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187086556	187086556	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187086556C>T	uc003iyt.4	+	10	1681	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	FAM149A_uc011cla.1_Missense_Mutation_p.P368S|FAM149A_uc010isl.3_Missense_Mutation_p.P368S|FAM149A_uc011clb.2_Missense_Mutation_p.P368S	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	659										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GAGCAGGTTCCCCCCGCTAGT	0.537000														60			19		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189923576	189923576	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189923576C>T	uc002uqk.3	-	32	2405	c.2130_splice	c.e32+1	p.R710_splice	COL5A2_uc010frx.3_Splice_Site_p.R286_splice	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	710					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.R710I(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AATACTTACTCTAGGTCCTAA	0.343000														35			10		0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42263150	42263150	+	Missense_Mutation	SNP	C	T	T	rs150623766		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:42263150C>T	uc003bbi.3	+	1	573	c.404C>T	c.(403-405)cCc>cTc	p.P135L	bK250D10.C22.8_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	135	Gln-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						cagccccgcccccagccccag	0.597000														71			38		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152083782	152083782	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152083782C>T	uc009wne.1	-	2	2183	c.1911G>A	c.(1909-1911)gaG>gaA	p.E637E	TCHH_uc001ezp.2_Silent_p.E637E	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	637	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTGCTCCTCGCTCTTCA	0.677000														142			20		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106692191	106692191	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106692191C>T	uc021ser.1	-	1154		c.24895G>A								Parts of antibodies, mostly variable regions.																		GCTAAGGCTCCTCTCTCAGAG	0.527000														71			23		0	0	1	0	0
CXCR7	57007	broad.mit.edu	37	2	237489255	237489255	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:237489255C>T	uc021vys.1	+	0	147	c.147C>T	c.(145-147)ttC>ttT	p.F49F	CXCR7_uc010fyq.3_Silent_p.F49F|CXCR7_uc002vwd.3_Silent_p.F49F	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	49					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		CGCTCTCCTTCATTTACATTT	0.527000														20			8		0	0	1	0	0
RANBP10	57610	broad.mit.edu	37	16	67763633	67763634	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67763633_67763634GG>AA	uc002eud.3	-	8	1212_1213	c.1096_1097CC>TT	c.(1096-1098)ccc>TTc	p.P366F	RANBP10_uc010ceo.3_Missense_Mutation_p.P137F|RANBP10_uc010vju.2_Missense_Mutation_p.P310F|RANBP10_uc010vjv.2_Missense_Mutation_p.P249F|RANBP10_uc010vjw.1_Missense_Mutation_p.P27F	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	366	Ser-rich.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ACTGAGGCTGGGGGAGCCAGGG	0.609000														71			22		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56459573	56459573	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56459573C>T	uc002qmh.3	+	0	376	c.305C>T	c.(304-306)tCg>tTg	p.S102L	NLRP8_uc010etg.3_Missense_Mutation_p.S102L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	102	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GATGTGACTTCGAACATCTTT	0.507000														41			23		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88583873	88583873	+	Missense_Mutation	SNP	G	A	A	rs149603030		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:88583873G>A	uc003hqv.3	+	5	1047	c.943G>A	c.(943-945)Ggt>Agt	p.G315S	DMP1_uc003hqw.3_Missense_Mutation_p.G299S	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	315					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.G315S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AGACAGCAAGGGTGACTCTCA	0.512000														80			6		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15600105	15600105	+	Missense_Mutation	SNP	C	T	T	rs138187704		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15600105C>T	uc001ioc.1	-	25	2734	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	ITGA8_uc010qcb.1_Missense_Mutation_p.E897K	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	912					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTGTGGAATTCGACCACATGT	0.498000														101			33		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34506728	34506728	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:34506728C>T	uc003zum.3	+	12	1360	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	389					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCATGTGTCTCGACATCCACG	0.577000									Kartagener syndrome					47			27		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072407	9072407	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9072407C>T	uc002mkp.3	-	2	15243	c.15039G>A	c.(15037-15039)ttG>ttA	p.L5013L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5015	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						TGGTCACATCCAATTGTGAAA	0.483000														58			21		0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919003	21919003	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21919003C>T	uc001rff.3	-	2	1267	c.929G>A	c.(928-930)cGa>cAa	p.R310Q		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	310						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)	GTAGGAGGTTCGTGCTTGTGT	0.483000														76			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179500409	179500409	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179500409C>T	uc021vsy.1	-	175	34163	c.33938G>A	c.(33937-33939)cGa>cAa	p.R11313Q	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R5008Q|TTN_uc021vta.1_Missense_Mutation_p.R4941Q|TTN_uc021vtb.1_Missense_Mutation_p.R4816Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12240	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P11313L(1)		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)			ATGCTGGTCTCGTATAGGTTT	0.358000														13			8		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5282896	5282896	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:5282896G>A	uc010zqw.2	-	1	953	c.945C>T	c.(943-945)ttC>ttT	p.F315F	PROKR2_uc010zqx.2_Silent_p.F315F|PROKR2_uc010zqy.2_Silent_p.F315F	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	315						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CGACCACGTAGAAGGCAGTGA	0.517000										HNSCC(71;0.22)				132			15		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412231	51412231	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:51412231G>A	uc001nhi.2	-	0	218	c.165C>T	c.(163-165)tcC>tcT	p.S55S		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	55				GSP -> CSA (in Ref. 1; BAC05754).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AATACATTGGGGAACCCAAGG	0.403000														55			18		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142162089	142162089	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142162089C>T	uc011krx.2	-	1	201	c.186G>A	c.(184-186)ctG>ctA	p.L62L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc022ani.1_Non-coding_Transcript|BV13S6J2.1_uc011krw.2_Silent_p.L62L					SubName: Full=BV13S6J2.1 protein; Flags: Fragment;																		AAATCAGCTTCAGCCCCATGC	0.478000														197			83		0	0	1	0	0
ACTR3C	653857	broad.mit.edu	37	7	149983537	149983537	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149983537G>A	uc003wgu.2	-	4	580	c.390C>T	c.(388-390)atC>atT	p.I130I	ACTR3C_uc022aps.1_Silent_p.I130I	NM_001164459	NP_001157931	Q9C0K3	ARP3C_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog C (yeast) (ACTR3C), transcript variant 2, mRNA.	130					regulation of actin filament polymerization	cytoskeleton	ATP binding|actin binding										TGATCGCATTGATACCCGTGT	0.413000														209			15		0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8700810	8700810	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:8700810C>T	uc002glp.2	-	0	1858	c.1629G>A	c.(1627-1629)cgG>cgA	p.R543R		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	543						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GGGGCAGCCTCCGCTGTATGG	0.602000														22			31		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75108735	75108735	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75108735C>T	uc001dgg.3	-	3	510	c.291G>A	c.(289-291)agG>agA	p.R97R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	97										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						TTCGCTCCTTCCTAGCTAAGG	0.318000														77			27		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937566	21937566	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:21937566C>T	uc010tzj.1	-	0		c.3174G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		AAATTGATTTCATATGATCCG	0.473000														122			23		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30938508	30938508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:30938508C>T	uc009yjk.1	-	13	1774	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.E228K	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	200	Doublecortin 2.				intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						TGTGAAGTTTCCTGCCAGGCA	0.418000														52			21		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871842	51871842	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:51871842G>A	uc002xwo.3	+	1	2732	c.1845G>A	c.(1843-1845)ggG>ggA	p.G615G	TSHZ2_uc021wex.1_Silent_p.G612G	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	615					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGGAGTGTGGGAAAGAAAGTC	0.507000														114			9		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124756397	124756397	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124756397G>A	uc001qbg.3	-	15	2897	c.2757C>T	c.(2755-2757)ttC>ttT	p.F919F	ROBO4_uc010sas.2_Silent_p.F774F|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.3_Silent_p.F477F	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	919					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCTCTAGACCGAAACCAAAGC	0.572000														54			29		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6087196	6087196	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:6087196C>T	uc010idb.1	-	3	1271	c.785G>A	c.(784-786)aGa>aAa	p.R262K	JAKMIP1_uc010idc.1_Missense_Mutation_p.R97K|JAKMIP1_uc010idd.1_Missense_Mutation_p.R262K|JAKMIP1_uc003giu.4_Missense_Mutation_p.R262K|JAKMIP1_uc011bwc.2_Missense_Mutation_p.R97K|JAKMIP1_uc003giv.4_Missense_Mutation_p.R262K|JAKMIP1_uc010ide.3_Missense_Mutation_p.R262K	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	262	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGGGAGCTCTCTCTTTGGACT	0.627000														62			19		0	0	1	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45695524	45695524	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45695524C>T	uc001zve.3	+	0	1006	c.897C>T	c.(895-897)ctC>ctT	p.L299L	BC039389_uc001zvd.3_5'Flank|SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	299						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GACCCAGCCTCCTCTTCCTGG	0.726000														13			5		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13735322	13735322	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13735322G>A	uc003jfd.2	-	67	11721	c.11679C>T	c.(11677-11679)ttC>ttT	p.F3893F	DNAH5_uc003jfc.2_Silent_p.F61F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3893					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)					AGGTGAACAGGAATTTGTGCT	0.433000									Kartagener syndrome					67			30		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	70992650	70992650	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:70992650C>T	uc001jpf.4	+	2	490	c.357C>T	c.(355-357)atC>atT	p.I119I	HKDC1_uc010qje.2_5'Flank	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	119					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ATGAAATCATCCGCGGGAACG	0.587000														134			39		0	0	1	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600303	3600303	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3600303G>A	uc002lyg.2	-	1	717	c.330C>T	c.(328-330)gtC>gtT	p.V110V	TBXA2R_uc021umv.1_Silent_p.V110V	NM_001060	NP_001051	P21731	TA2R_HUMAN	Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA.	110					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AGATCATGACGACGCCCATGA	0.692000														37			19		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18869133	18869133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:18869133G>A	uc003sui.3	+	17	2469	c.2428G>A	c.(2428-2430)Gac>Aac	p.D810N	HDAC9_uc003sue.3_Missense_Mutation_p.D807N|HDAC9_uc011jyd.2_Missense_Mutation_p.D807N|HDAC9_uc003suh.3_Missense_Mutation_p.D807N|HDAC9_uc003suj.3_Missense_Mutation_p.D766N|HDAC9_uc003suk.3_Missense_Mutation_p.D55N	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	807	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATACTTGAGAGACCAACTAAA	0.378000														48			26		0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184632794	184632794	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:184632794C>T	uc021xik.1	+	25	2303	c.2215C>T	c.(2215-2217)Ccc>Tcc	p.P739S	VPS8_uc003fpb.1_Missense_Mutation_p.P737S|VPS8_uc010hyd.1_Missense_Mutation_p.P647S|VPS8_uc010hye.1_Missense_Mutation_p.P166S	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	739							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TCGTGCCTATCCCCTTGGTGA	0.428000														73			22		0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64668681	64668681	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:64668681G>A	uc021qzu.1	-	11	1584	c.1584_splice	c.e11+1	p.I528_splice	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Splice_Site_p.I368_splice|C12orf56_uc001srz.3_Splice_Site_p.I10_splice|C12orf56_uc001sry.3_Splice_Site_p.I110_splice	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	531										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)		AGATACTTACGATGGGAGGAC	0.373000														61			24		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208684	23208684	+	Missense_Mutation	SNP	C	T	T	rs141248272		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23208684C>T	uc002dlm.1	+	5	1152	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	338					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity	p.P338L(2)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GATGAGTATCCCTTCGTCGAA	0.468000														56			12		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79433634	79433634	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:79433634G>A	uc001xun.3	+	9	2233	c.1742G>A	c.(1741-1743)tGg>tAg	p.W581*	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Nonsense_Mutation_p.W706*	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	173					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GACAACCAGTGGCACAATGTC	0.448000														88			7		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155646	151155646	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151155646G>A	uc011bod.2	-	5	6703	c.6703C>T	c.(6703-6705)Cca>Tca	p.P2235S	IGSF10_uc011bob.2_Missense_Mutation_p.P262S|IGSF10_uc011boc.2_Missense_Mutation_p.P214S	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2235	Ig-like C2-type 9.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGATTAATGGAGGTTTAGAG	0.433000														108			44		0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7076403	7076403	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7076403C>T	uc002mga.3	+	4	617	c.132C>T	c.(130-132)acC>acT	p.T44T	ZNF557_uc002mgb.3_Silent_p.T37T|ZNF557_uc002mgc.3_Silent_p.T44T	NM_024341	NP_077317	Q8N988	ZN557_HUMAN	Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA.	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GCTTGGTGACCTTTGAGGATG	0.582000														111			45		0	0	1	0	0
CD3D	915	broad.mit.edu	37	11	118211307	118211307	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118211307C>T	uc001pss.1	-	2	193	c.56_splice	c.e2-1	p.V19_splice	CD3D_uc001pst.1_Splice_Site_p.V19_splice|CD3D_uc021qrf.1_Intron	NM_000732	NP_000723	P04234	CD3D_HUMAN	Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA.	19					T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TGAAGGGGCTCACTAAAGGGG	0.463000														23			8		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7571715	7571715	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7571715G>A	uc003mxp.1	+	13	2080	c.1801G>A	c.(1801-1803)Gga>Aga	p.G601R	DSP_uc003mxq.1_Missense_Mutation_p.G601R|DSP_uc021yle.1_Missense_Mutation_p.G601R	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	601	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)		AGAGATGTTTGGAGATGATGA	0.483000														216			28		0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38187400	38187400	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:38187400G>A	uc003xli.3	-	5	1595	c.1077C>T	c.(1075-1077)ccC>ccT	p.P359P	WHSC1L1_uc011lbm.2_Silent_p.P359P|WHSC1L1_uc010lwe.3_Silent_p.P359P|WHSC1L1_uc003xlj.3_Silent_p.P359P	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	359					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TCTGAGGTCGGGGTTTCCGAA	0.363000			T	NUP98	AML									74			21		0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128455945	128455945	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128455945C>T	uc003vnv.2	+	15	3739	c.3323C>T	c.(3322-3324)cCc>cTc	p.P1108L	CCDC136_uc003vnu.2_Intron|CCDC136_uc003vnx.2_Missense_Mutation_p.P924L|CCDC136_uc010llq.2_Missense_Mutation_p.P477L|CCDC136_uc003vny.2_Intron	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	1108	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTTGAAAGTCCCGAAGAAAAT	0.493000														27			7		0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6477676	6477676	+	Missense_Mutation	SNP	G	A	A	rs138597075		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6477676G>A	uc001mdh.3	-	6	1676	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	TRIM3_uc001mdi.3_Missense_Mutation_p.S427F|TRIM3_uc010raj.2_Missense_Mutation_p.S308F|TRIM3_uc009yfd.3_Missense_Mutation_p.S427F|TRIM3_uc010rak.1_Missense_Mutation_p.S427F|TRIM3_uc001mdj.2_Missense_Mutation_p.S308F	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	427					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCGTCCGGGGAAGGTGGCAG	0.697000														21			13		0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8583216	8583216	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:8583216C>T	uc003glk.3	+	0	1000	c.507C>T	c.(505-507)ttC>ttT	p.F169F	GPR78_uc021xlj.1_Intron|CPZ_uc003gll.3_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	169					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						GTCCGCGCTTCGCAGCCTTCA	0.697000														8			4		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41585335	41585335	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:41585335C>T	uc010skn.2	+	1	732	c.724C>T	c.(724-726)Cga>Tga	p.R242*		NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	242	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TATAGGAGGTCGACCAAATCA	0.303000														34			14		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18657714	18657714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:18657714G>A	uc003zne.4	+	7	1064	c.912G>A	c.(910-912)acG>acA	p.T304T	ADAMTSL1_uc003znb.3_Silent_p.T304T|ADAMTSL1_uc003znc.4_Silent_p.T304T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	304						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAGGGAGACGGATTTCTTTC	0.463000														36			7		0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99459391	99459391	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99459391G>A	uc003ury.1	+	10	1285	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V	CYP3A43_uc003urx.1_Silent_p.V394V|CYP3A43_uc003urz.1_Silent_p.V394V|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Silent_p.V284V|CYP3A43_uc003usb.1_Silent_p.V254V	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	394			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GGTTAGCAGTGATGGTTCCAA	0.458000														82			40		0	0	1	0	0
IGJ	3512	broad.mit.edu	37	4	71532205	71532205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71532205C>T	uc010ihz.3	-	0	144	c.3G>A	c.(1-3)atG>atA	p.M1I	IGJ_uc003hfn.4_Missense_Mutation_p.M1I	NM_144646	NP_653247	P01591	IGJ_HUMAN	Homo sapiens immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides (IGJ), mRNA.	1					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			AATGGTTCTTCATCTTGACTT	0.388000														47			25		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29056049	29056049	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29056049C>T	uc002kws.3	+	15	2935	c.2826C>T	c.(2824-2826)tcC>tcT	p.S942S	DSG3_uc002kwt.3_Silent_p.S224S	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	942					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.S942F(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTCTGGTTCCCTCGTGCAAC	0.507000														106			31		0	0	1	0	0
PROP1	5626	broad.mit.edu	37	5	177421114	177421114	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:177421114C>T	uc003mif.1	-	1	644	c.335G>A	c.(334-336)cGa>cAa	p.R112Q		NM_006261	NP_006252	O75360	PROP1_HUMAN	Homo sapiens PROP paired-like homeobox 1 (PROP1), mRNA.	112					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCTGGATTCGGGCCTCACT	0.527000														102			37		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158074137	158074137	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:158074137C>T	uc003ipj.2	+	8	1374	c.1172C>T	c.(1171-1173)aCt>aTt	p.T391I	GLRB_uc021xtp.1_Intron|GLRB_uc021xtq.1_Missense_Mutation_p.T391I	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	391					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GGAACAGGGACTCCTGTTCAT	0.408000														39			19		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5754219	5754219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:5754219C>T	uc002mda.3	+	12	1302	c.1241C>T	c.(1240-1242)tCg>tTg	p.S414L	CATSPERD_uc010duj.1_Missense_Mutation_p.S72L	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	414						integral to membrane											TTGACTGCTTCGTTGATACCC	0.453000														138			64		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118456684	118456684	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:118456684C>T	uc010jcl.1	+	8	1133	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	DMXL1_uc003ksd.2_Missense_Mutation_p.R318C|DMXL1_uc021ycw.1_Missense_Mutation_p.R145C|DMXL1_uc003ksc.1_Missense_Mutation_p.R318C	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	318										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAGACATTTTCGTAGAGGTCG	0.398000														141			12		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251824	25251824	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:25251824C>T	uc002dod.4	-	6	2624	c.2217G>A	c.(2215-2217)caG>caA	p.Q739Q	ZKSCAN2_uc010vcl.2_Silent_p.Q535Q	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	739					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)		CAAAAGGCCTCTGATGCACAA	0.488000														77			23		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35923043	35923043	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:35923043C>T	uc003olm.3	-	16	2229	c.2118G>A	c.(2116-2118)agG>agA	p.R706R	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Silent_p.R288R|SLC26A8_uc003oll.3_Silent_p.R601R|SLC26A8_uc003oln.3_Silent_p.R706R	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	706	Interaction with RACGAP1.|STAS.				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						TGAGTGATCTCCTCCCCTGGC	0.517000														55			29		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31535929	31535929	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31535929C>T	uc003aka.3	-	0	541	c.412G>A	c.(412-414)Gga>Aga	p.G138R		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	138					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCAGGGACTCCACTCTGCCCT	0.617000														47			10		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55377343	55377343	+	Missense_Mutation	SNP	C	T	T	rs138402445		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55377343C>T	uc002qhl.4	+	6	1147	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	KIR3DL2_uc002qho.4_Missense_Mutation_p.R362C|KIR3DL2_uc010esh.3_Missense_Mutation_p.R345C			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	362					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		tctcctTTATCGCTGGTGCTC	0.532000														43			13		0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166896371	166896371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:166896371C>T	uc001gdx.2	-	6	983	c.927G>A	c.(925-927)atG>atA	p.M309I		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	309						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ACAGGACCTTCATGGAGTCTC	0.463000														107			62		0	0	1	0	0
AURKC	6795	broad.mit.edu	37	19	57746631	57746631	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57746631C>T	uc002qoe.3	+	6	965	c.776C>T	c.(775-777)cCa>cTa	p.P259L	AURKC_uc002qoc.3_Missense_Mutation_p.P240L|AURKC_uc002qod.3_Missense_Mutation_p.P225L|AURKC_uc010etv.3_Missense_Mutation_p.P256L	NM_001015878	NP_003151	Q9UQB9	AURKC_HUMAN	Homo sapiens aurora kinase C (AURKC), transcript variant 1, mRNA.	259	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		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;0.0122)		GTGAGGTTTCCACTATCAATG	0.517000														36			17		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046902	175046902	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175046902G>A	uc001gkl.1	+	1	461	c.348G>A	c.(346-348)gaG>gaA	p.E116E	TNN_uc010pmx.1_Silent_p.E116E	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	116					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.E116D(2)|p.E116K(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAAGCTGGAGGAAGAGATGG	0.552000														37			12		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70049347	70049347	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:70049347C>T	uc010kak.3	+	24	3686	c.3410C>T	c.(3409-3411)tCa>tTa	p.S1137L	BAI3_uc003pev.4_Missense_Mutation_p.S1137L|BAI3_uc011dxx.2_Missense_Mutation_p.S343L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1137					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTGTTTGATTCATTGCAAGGC	0.443000														118			69		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42231188	42231188	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:42231188G>A	uc003ose.2	-	7	2317	c.1754C>T	c.(1753-1755)cCc>cTc	p.P585L	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.P585L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	585	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GACAGACACGGGCATGACCAT	0.692000														70			21		0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796874	62796874	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62796874G>A	uc002jew.4	-	5	1077	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	PLEKHM1P_uc002jev.3_Non-coding_Transcript|PLEKHM1P_uc010wqe.1_Missense_Mutation_p.R56C					Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene (PLEKHM1P), non-coding RNA.																		GACTCACAGCGAAGCAGGGAG	0.627000														25			10		0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10781819	10781819	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:10781819G>T	uc001mja.3	+	5	841	c.692G>T	c.(691-693)tGc>tTc	p.C231F		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	231					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AATTCCAAATGCGTGGGAGCA	0.438000														87			36		1.67305e-13	1.68063e-13	1	1	0
SPERT	220082	broad.mit.edu	37	13	46287520	46287520	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:46287520G>A	uc001van.1	+	2	440	c.360G>A	c.(358-360)cgG>cgA	p.R120R	SPERT_uc001vao.2_Silent_p.R84R	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	120						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		ACCCGCCGCGGGTGCAGCTCA	0.627000														82			33		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44974300	44974301	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:44974300_44974301GG>AA	uc001wvn.3	-	0	2199_2200	c.1890_1891CC>TT	c.(1888-1893)gccccc>gcTTcc	p.P631S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	631	Ala-rich.					cilium		p.A630T(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ACTTCAGCGGGGGCCTCCTCAG	0.639000														27			5		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98146820	98146820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98146820G>A	uc001kml.2	-	13	1983	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	581	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ATCTGGCCAGGAACACTCATC	0.597000														54			21		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138163315	138163315	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:138163315C>T	uc002tva.1	+	11	2540	c.2540C>T	c.(2539-2541)tCc>tTc	p.S847F	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.S737F	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)		ACTGCTTGGTCCAAGTTTACG	0.502000														22			8		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64984868	64984868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:64984868C>T	uc002eoi.3	-	11	2130	c.1696G>A	c.(1696-1698)Gac>Aac	p.D566N	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Missense_Mutation_p.D566N|CDH11_uc010vin.2_Missense_Mutation_p.D440N	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	566	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGGTACAAGTCCTGCTTCTGC	0.602000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				38			8		0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117929	20117929	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:20117929C>T	uc002noq.3	-	3	505	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	ZNF682_uc002noo.3_Missense_Mutation_p.E96K|ZNF682_uc002nop.3_Missense_Mutation_p.E96K|ZNF682_uc010eck.3_Missense_Mutation_p.E52K	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTATAAATTTCTTTTTGATCC	0.328000														55			25		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5238990	5238990	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:5238990G>A	uc002mbv.3	-	12	2023	c.1789C>T	c.(1789-1791)Cgc>Tgc	p.R597C	PTPRS_uc002mbu.1_Missense_Mutation_p.R584C|PTPRS_uc010xin.2_Missense_Mutation_p.R584C|PTPRS_uc002mbw.3_Missense_Mutation_p.R584C|PTPRS_uc002mbx.3_Missense_Mutation_p.R588C|PTPRS_uc002mby.3_Missense_Mutation_p.R584C	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	597	Fibronectin type-III 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGCGGCGAGCGGGCCGCCAGG	0.711000														61			19		0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91449187	91449187	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:91449187C>T	uc010bnz.2	+	4	763	c.648C>T	c.(646-648)gtC>gtT	p.V216V	MAN2A2_uc010boa.3_Silent_p.V258V|MAN2A2_uc002bqc.3_Silent_p.V216V|MAN2A2_uc010uql.2_5'Flank|MAN2A2_uc010uqm.2_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	216					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGGCAGAGGTCTCCTTCTTCG	0.577000														40			17		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990342	63990342	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:63990342C>T	uc003peh.3	-	3	1148	c.1114G>A	c.(1114-1116)Gac>Aac	p.D372N	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	372					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TCTTTCCTGTCCTTGGAATAA	0.478000														149			52		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115371995	115371995	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115371995C>T	uc001lal.3	-	29	3660	c.3496G>A	c.(3496-3498)Gag>Aag	p.E1166K	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Missense_Mutation_p.E1166K|NRAP_uc001lak.3_Missense_Mutation_p.E1131K	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1166						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTCCTTACCTCACTCTGCAAT	0.542000														61			25		0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703443	55703443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55703443C>T	uc010ris.2	-	0	434	c.434G>A	c.(433-435)cGg>cAg	p.R145Q		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R145W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GACAATCAACCGCATACAGAT	0.428000														71			29		0	0	1	0	0
C20orf111	51526	broad.mit.edu	37	20	42825913	42825913	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42825913G>A	uc002xlk.3	-	3	910	c.658C>T	c.(658-660)Ctg>Ttg	p.L220L		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	Homo sapiens chromosome 20 open reading frame 111 (C20orf111), mRNA.	220										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	14		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			ACACTCTGCAGGCCTGAAAAG	0.522000														80			11		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51974734	51974734	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51974734G>A	uc002abh.3	+	1	506	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	SCG3_uc010ufz.2_Intron	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	35					platelet activation|platelet degranulation	extracellular region|stored secretory granule		p.E35K(2)		breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ACATAATAGAGAATTAAGTGC	0.239000														53			4		0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15666539	15666539	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:15666539G>A	uc003stc.3	-	1	803	c.522C>T	c.(520-522)tcC>tcT	p.S174S		NM_005924	NP_005915	P50222	MEOX2_HUMAN	Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA.	174					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTCCTTCCTGGGAGTCTGAAA	0.363000														72			27		0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11068332	11068332	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:11068332C>T	uc003sry.2	+	6	1794	c.1342C>T	c.(1342-1344)Cgc>Tgc	p.R448C	PHF14_uc011jxi.2_Missense_Mutation_p.R163C|PHF14_uc011jxj.2_Missense_Mutation_p.R163C	NM_014660	NP_055475	O94880	PHF14_HUMAN	Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA.	448							zinc ion binding	p.R448C(2)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGAAGACCCTCGCTTTGCTAG	0.433000														35			18		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764008	82764008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82764008C>T	uc003uhx.2	-	2	3147	c.2858G>A	c.(2857-2859)gGa>gAa	p.G953E	PCLO_uc003uhv.2_Missense_Mutation_p.G953E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	899	Pro-rich.				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						TGAATGAGGTCCAGGTTGGCC	0.522000														26			11		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305718	54305718	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54305718C>T	uc021smr.1	+	0	618	c.618C>T	c.(616-618)tcC>tcT	p.S206S	UNC13C_uc021sms.1_Silent_p.S206S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	206					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)		TGAAAAAATCCTGGGGAATAA	0.438000														112			39		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183721410	183721410	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:183721410G>A	uc003ivd.1	+	26	8081	c.8006G>A	c.(8005-8007)gGg>gAg	p.G2669E		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2669					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGCTACGACGGGTACTACGTA	0.692000														15			3		0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40191557	40191557	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:40191557C>T	uc002yxf.3	+	8	1402	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	ETS2_uc002yxg.3_Silent_p.F314F	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	314					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TCGAGAGCTTCGAAGATGACT	0.547000														34			14		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038129	75038129	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75038129C>T	uc001dgg.3	-	13	3484	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1089	Glu-rich.									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						AAAGCATCTTCATCCTTGAGT	0.433000														184			74		0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40754416	40754416	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40754416C>T	uc001zlu.2	+	2	1809	c.1738C>T	c.(1738-1740)Cct>Tct	p.P580S	BAHD1_uc001zlt.2_Missense_Mutation_p.P579S|BAHD1_uc010bbp.1_Missense_Mutation_p.P579S|BAHD1_uc001zlv.2_Missense_Mutation_p.P580S	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	580	Arg-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCGCCCACGCCCTCGCCGCCG	0.647000														109			49		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149500802	149500802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149500802C>T	uc003lro.3	-	16	2897	c.2428G>A	c.(2428-2430)Gtg>Atg	p.V810M	PDGFRB_uc010jhd.3_Missense_Mutation_p.V649M	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	810	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCATTGGCCACCTGGTAGCTG	0.597000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									49			16		0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67815433	67815433	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67815433C>T	uc001one.3	+	12	1677	c.1548C>T	c.(1546-1548)atC>atT	p.I516I	TCIRG1_uc001ong.3_Silent_p.I300I|TCIRG1_uc021qmm.1_Silent_p.I67I|TCIRG1_uc009ysd.3_5'Flank	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	516					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	p.I516I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CCTTTGGCATCGATCCTGTGA	0.647000														34			16		0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237400	29237400	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:29237400C>T	uc001wqe.3	+	0	1114	c.915C>T	c.(913-915)tcC>tcT	p.S305S		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	305				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GCGCCGGCTCCCTCTACTGGC	0.701000														131			41		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320147	56320147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56320147C>T	uc010ygf.2	-	4	2540	c.1829G>A	c.(1828-1830)aGg>aAg	p.R610K	NLRP11_uc002qlz.3_Missense_Mutation_p.R511K|NLRP11_uc002qmb.3_Missense_Mutation_p.R511K|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	610							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGCAGTTGGCCTTATAAGTGG	0.408000														102			37		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1906950	1906950	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1906950G>A	uc002qxe.3	-	13	2761	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L	MYT1L_uc002qxd.3_Missense_Mutation_p.S643L|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	645					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTATTCAAACGAGGTCTTGGA	0.483000														59			27		0	0	1	0	0
KLK9	284366	broad.mit.edu	37	19	51507037	51507037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51507037G>A	uc002pux.1	-	3	613	c.526C>T	c.(526-528)Cac>Tac	p.H176Y	KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Missense_Mutation_p.H147Y|KLK8_uc002puq.1_5'Flank|KLK8_uc002pur.1_5'Flank|KLK8_uc002pus.1_5'Flank|KLK8_uc002put.1_5'Flank|KLK8_uc002puu.1_5'Flank|KLK8_uc002puv.1_Non-coding_Transcript	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA.	176	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		TATGCCCAGTGACAGAGTTTG	0.567000														44			28		0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47650116	47650116	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:47650116C>T	uc010jzj.1	+	5	1822	c.1821C>T	c.(1819-1821)ttC>ttT	p.F607F	GPR111_uc003oyy.3_Silent_p.F539F	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	607					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TCCTGGCCTTCGTGATCCCAG	0.537000														36			12		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106118213	106118213	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106118213G>A	uc001kyh.3	+	1	258	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	42										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATTTCGGATTGAATATGAGAG	0.388000														53			16		0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152737408	152737408	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152737408G>T	uc002tya.3	-	3	364	c.296C>A	c.(295-297)aCa>aAa	p.T99K	CACNB4_uc002txy.3_Missense_Mutation_p.T65K|CACNB4_uc002txz.3_Missense_Mutation_p.T81K|CACNB4_uc010fnz.3_Missense_Mutation_p.T99K|CACNB4_uc021vre.1_Missense_Mutation_p.T65K|CACNB4_uc002tyb.2_Missense_Mutation_p.T65K	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	99					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	GCTCACATTTGTCTTCACGGC	0.448000														31			14		4.7546e-09	4.77041e-09	1	1	0
TDRKH	11022	broad.mit.edu	37	1	151751698	151751698	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151751698G>A	uc009wnb.1	-	4	624	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Missense_Mutation_p.R144C|TDRKH_uc001ezc.4_Intron|TDRKH_uc001eza.4_Missense_Mutation_p.R148C|TDRKH_uc001ezd.4_Missense_Mutation_p.R148C|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	148	KH 2.						RNA binding	p.R148C(2)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGATAGAACGAATTGTCTCG	0.398000														75			23		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49427388	49427388	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49427388G>A	uc001rta.4	-	38	11100	c.11100C>T	c.(11098-11100)ttC>ttT	p.F3700F		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3700	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.Q3699*(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGTTGCCAGGGAAGAAGCCCC	0.582000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				99			28		0	0	1	0	0
RNF186	54546	broad.mit.edu	37	1	20140998	20140998	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:20140998G>A	uc001bcr.3	-	0	774	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_019062	NP_061935	Q9NXI6	RN186_HUMAN	Homo sapiens ring finger protein 186 (RNF186), mRNA.	199						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTGCTGGGGAGACAGCAGA	0.592000														44			9		0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191874651	191874651	+	Missense_Mutation	SNP	G	A	A	rs11549696		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:191874651G>A	uc010fse.2	-	1	511	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S	STAT1_uc021vue.1_5'UTR|STAT1_uc002usj.2_Missense_Mutation_p.P27S|STAT1_uc002usk.2_Missense_Mutation_p.P27S|STAT1_uc002usl.2_Missense_Mutation_p.P29S|STAT1_uc010fsf.1_5'UTR	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	27					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ATTTCCATGGGAAAACTGTCA	0.408000														186			10		0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10228227	10228227	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:10228227C>T	uc021ogc.1	+	24	4073	c.3385C>T	c.(3385-3387)Cag>Tag	p.Q1129*	UBE4B_uc001aqs.4_Nonsense_Mutation_p.Q1078*|UBE4B_uc001aqr.4_Nonsense_Mutation_p.Q949*|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Nonsense_Mutation_p.Q533*|UBE4B_uc001aqu.3_5'Flank	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	1078					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TCAGCTTGCTCAGGATGAGCG	0.587000														37			12		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117250683	117250683	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:117250683C>T	uc003vjd.3	+	18	3231	c.3099C>T	c.(3097-3099)ttC>ttT	p.F1033F	CFTR_uc011knq.2_Silent_p.F439F	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1033	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.F1033V(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GAGCATATTTCCTCCAAACCT	0.388000									Cystic Fibrosis					65			6		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48734526	48734526	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48734526C>T	uc002isl.3	+	3	548	c.468C>T	c.(466-468)atC>atT	p.I156I	ABCC3_uc002isk.4_Silent_p.I156I	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	156					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCTCCAAGATCCTTTTAGCCA	0.567000														118			47		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299207	58299207	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:58299207G>A	uc001vhq.1	+	3	4151	c.3259G>A	c.(3259-3261)Gac>Aac	p.D1087N	PCDH17_uc010aec.1_Missense_Mutation_p.D1086N|PCDH17_uc001vhr.1_Missense_Mutation_p.D176N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1087					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCAACCAAGAGACCCTCCCTT	0.532000														102			38		0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92353616	92353616	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:92353616G>A	uc010aue.3	-	7	1256	c.783C>T	c.(781-783)acC>acT	p.T261T	FBLN5_uc010aud.3_Silent_p.T225T|FBLN5_uc001xzx.4_Silent_p.T220T	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	220	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGTTGACGCAGGTTTGCACGC	0.522000														97			49		0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39959963	39959963	+	Silent	SNP	C	T	T	rs147765614		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39959963C>T	uc002olo.4	+	15	1478	c.1299C>T	c.(1297-1299)ctC>ctT	p.L433L	SUPT5H_uc002olp.4_Silent_p.L433L|SUPT5H_uc002olq.4_Silent_p.L429L|SUPT5H_uc002oln.4_Silent_p.L433L|SUPT5H_uc002olr.4_Silent_p.L433L|SUPT5H_uc002ols.1_Silent_p.L56L|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	433	KOW 2.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGGTGAGCTCATCAACCTGC	0.612000														23			9		0	0	1	0	0
TTLL11	158135	broad.mit.edu	37	9	124752002	124752002	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:124752002G>A	uc011lyl.2	-	3	1199	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	TTLL11_uc004blr.3_Non-coding_Transcript|TTLL11_uc011lym.1_Silent_p.I14I|TTLL11_uc004blt.1_Silent_p.I337I|TTLL11_uc004blu.1_3'UTR	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA.	337	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	p.I337I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CAGGTTTCACGATAAAAGTGG	0.532000														172			44		0	0	1	0	0
C20orf94	128710	broad.mit.edu	37	20	10579331	10579331	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:10579331T>A	uc010zre.2	+	4	427	c.247T>A	c.(247-249)Ttt>Att	p.F83I		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	83							protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						AGGTTATGGCTTTCAAATCAC	0.453000														58			8		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19444786	19444786	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19444786C>T	uc010tcj.1	-	0		c.1324G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ATTAACTGGCCTTTTAACATA	0.313000														87			22		0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18603886	18603886	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:18603886C>T	uc002dfg.3	+	8	1053	c.853C>T	c.(853-855)Ccc>Tcc	p.P285S	ABCC6P1_uc010vam.2_Missense_Mutation_p.P228S					Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 1 (ABCC6P1), non-coding RNA.																		TATTGGTGATCCCAAGCCTCC	0.562000														19			13		0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813251	248813251	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248813251C>T	uc010pzo.2	-	0	935	c.935G>A	c.(934-936)gGa>gAa	p.G312E		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTTACCTTTCCTGAGGACAC	0.428000														60			23		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64633642	64633642	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:64633642C>T	uc003dmg.3	-	10	1716	c.1684G>A	c.(1684-1686)Gat>Aat	p.D562N	ADAMTS9_uc011bfo.2_Missense_Mutation_p.D534N|ADAMTS9_uc003dmh.1_Missense_Mutation_p.D391N|ADAMTS9_uc003dmk.1_Missense_Mutation_p.D562N	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	562	Disintegrin.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCCGTCCCATCGGCCCAGGGT	0.522000														117			30		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027359	55027359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:55027359G>A	uc002lgn.3	+	3	1351	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	332					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CAACACAAGGGAAGATCTTCC	0.463000														57			19		0	0	1	0	0
NR1I2	8856	broad.mit.edu	37	3	119535955	119535955	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:119535955C>T	uc003edj.3	+	8	3040	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	NR1I2_uc003edi.3_Missense_Mutation_p.R364C|NR1I2_uc003edk.3_Missense_Mutation_p.R440C|NR1I2_uc003edl.3_Missense_Mutation_p.R289C	NM_003889	NP_003880	O75469	NR1I2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 2 (NR1I2), transcript variant 1, mRNA.	401	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CACCGAGCTCCGCAGCATCAA	0.582000														64			37		0	0	1	0	0
CRYBA2	1412	broad.mit.edu	37	2	219856910	219856910	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219856910C>T	uc002vjj.1	-	2	252	c.217G>A	c.(217-219)Gga>Aga	p.G73R	CRYBA2_uc002vjk.1_Missense_Mutation_p.G73R	NM_057094	NP_476435	P53672	CRBA2_HUMAN	Homo sapiens crystallin, beta A2 (CRYBA2), transcript variant 3, mRNA.	73	Beta/gamma crystallin 'Greek key' 2.						structural constituent of eye lens			endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGATAGTCTCCCTTCTCCAGA	0.617000														38			18		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969396	140969396	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140969396G>A	uc011mwp.2	+	3	723	c.723G>A	c.(721-723)ctG>ctA	p.L241L		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	241	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCATTTCCCTGACAGAAGTGG	0.483000														65			78		0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74429805	74429805	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:74429805G>A	uc001ovh.3	-	1	408	c.155C>T	c.(154-156)cCa>cTa	p.P52L	CHRDL2_uc001ovg.3_5'UTR|CHRDL2_uc001ovi.3_Missense_Mutation_p.P52L|CHRDL2_uc001ovk.1_Missense_Mutation_p.P52L	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	52	VWFC 1.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CAGGCCTTGTGGCTCCAAGTA	0.577000														25			8		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187524930	187524930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187524930G>A	uc003izf.3	-	18	10938	c.10750C>T	c.(10750-10752)Cct>Tct	p.P3584S		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3584	Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCCATCTGAGGGTCGAGACTG	0.483000										HNSCC(5;0.00058)				26			8		0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112043097	112043097	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:112043097G>A	uc001ebh.4	-	1	1199	c.432C>T	c.(430-432)acC>acT	p.T144T	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Intron	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	144					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CAAACATGGGGGTCAATCCCA	0.488000														112			45		0	0	1	0	0
SH3BGR	6450	broad.mit.edu	37	21	40834415	40834415	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:40834415C>T	uc002yya.3	+	1	403	c.349C>T	c.(349-351)Cct>Tct	p.P117S	SH3BGR_uc002yxz.3_Missense_Mutation_p.P6S	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	117					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		AGAGAATGTTCCTGGAGAGAA	0.418000														50			23		0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58035215	58035215	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58035215G>A	uc001nmq.1	-	0	518	c.116C>T	c.(115-117)tCc>tTc	p.S39F		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S39S(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				TGTGTGAATGGACACCACAAT	0.488000														60			22		0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71833266	71833266	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:71833266C>T	uc004ahe.3	+	3	651	c.333C>T	c.(331-333)gtC>gtT	p.V111V	TJP2_uc011lrs.2_Silent_p.V88V|TJP2_uc004ahb.1_Silent_p.V88V|TJP2_uc011lrt.1_Silent_p.V88V|TJP2_uc004ahd.3_Silent_p.V111V|TJP2_uc004ahf.3_Silent_p.V111V|TJP2_uc011lru.2_Silent_p.V115V|TJP2_uc011lrv.2_Silent_p.V142V	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	111	PDZ 1.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GTGGGAAGGTCGCTGCTATTG	0.433000														46			25		0	0	1	0	0
SCGB2B2	284402	broad.mit.edu	37	19	35085210	35085210	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35085210G>A	uc002nvn.3	-	1	138	c.116C>T	c.(115-117)tCc>tTc	p.S39F		NM_001025591	NP_001020762	Q4G0G5	SCGBL_HUMAN	Homo sapiens secretoglobin, family 2B, member 2 (SCGB2B2), mRNA.	39						extracellular region	binding										GAGGTCTTGGGACACATCAAA	0.507000														104			23		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45108503	45108503	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:45108503C>T	uc010skz.1	-	10	1291	c.1166G>A	c.(1165-1167)cGa>cAa	p.R389Q	NELL2_uc001rof.3_Missense_Mutation_p.R338Q|NELL2_uc001rog.2_Missense_Mutation_p.R339Q|NELL2_uc001roh.2_Missense_Mutation_p.R339Q|NELL2_uc009zkd.2_Missense_Mutation_p.R338Q|NELL2_uc010sla.1_Missense_Mutation_p.R362Q|NELL2_uc001roi.1_Missense_Mutation_p.R339Q|NELL2_uc010slb.1_Missense_Mutation_p.R338Q|NELL2_uc001roj.2_Missense_Mutation_p.R339Q	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	339	VWFC 2.				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)		AAAGTAGGTTCGTCCTTGAAA	0.348000														59			19		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47561043	47561043	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47561043G>A	uc003gxk.1	+	12	2702	c.2538G>A	c.(2536-2538)aaG>aaA	p.K846K	ATP10D_uc003gxl.1_Silent_p.K94K	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	846					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GTATAGCAAAGAAGGTGAGAC	0.428000														86			17		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70974966	70974966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70974966C>T	uc001swb.4	-	7	1804	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K	PTPRB_uc010sto.2_Missense_Mutation_p.E592K|PTPRB_uc010stp.2_Missense_Mutation_p.E502K|PTPRB_uc001swc.4_Missense_Mutation_p.E810K|PTPRB_uc001swa.4_Missense_Mutation_p.E810K|PTPRB_uc001swd.4_Missense_Mutation_p.E809K|PTPRB_uc009zrr.2_Missense_Mutation_p.E689K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	592	Fibronectin type-III 7.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACCACATTTTCATGGATCAGT	0.463000														137			42		0	0	1	0	0
E2F3	1871	broad.mit.edu	37	6	20490515	20490515	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:20490515C>T	uc003nda.2	+	6	1579	c.1252C>T	c.(1252-1254)Cta>Tta	p.L418L	E2F3_uc021ymj.1_Silent_p.L287L	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	418	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.N417D(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TCCTTCCAACCTAGAAGGACC	0.527000														79			28		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424692	125424692	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125424692G>A	uc022bmz.1	+	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G283A(1)		breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCAGCTGCTGGAAAGCGTAAA	0.428000														160			77		0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17721594	17721594	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17721594G>A	uc001bak.1	+	12	1485	c.1485G>A	c.(1483-1485)gaG>gaA	p.E495E		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	487	Poly-Leu.				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ACAAGAATGAGGGCAAAAAGG	0.512000														90			34		0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109182393	109182393	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:109182393G>A	uc001tnm.3	-	14	2608	c.2521C>T	c.(2521-2523)Cct>Tct	p.P841S	SSH1_uc001tnl.3_Missense_Mutation_p.P529S	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	841					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGGAGGGAGGTGCTGGGTCT	0.657000														35			24		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38904723	38904723	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38904723C>A	uc021wvy.1	-	23	4218	c.4019G>T	c.(4018-4020)gGa>gTa	p.G1340V	SCN11A_uc003cis.1_Missense_Mutation_p.G5V	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1340					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTTTTTGGATCCTAATTTTTT	0.348000														47			18		1.67942e-08	1.68452e-08	1	1	0
GCN1L1	10985	broad.mit.edu	37	12	120598020	120598020	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:120598020G>A	uc001txo.3	-	22	2489	c.2476C>T	c.(2476-2478)Ctg>Ttg	p.L826L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	826					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGCTGGTCAGCTGCACCTCC	0.582000														81			25		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599939	29599939	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29599939C>T	uc001usl.4	+	0	1192	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	368						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACAGTGACCTCCACCACCTTG	0.572000														31			9		0	0	1	0	0
LOC440518	440518	broad.mit.edu	37	19	22785631	22785631	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22785631G>A	uc002nqu.4	+	8		c.1638G>A								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		CAGCGCTGAAGGAGCAGCACC	0.667000														17			10		0	0	1	0	0
ANKRD5	63926	broad.mit.edu	37	20	10033879	10033879	+	Missense_Mutation	SNP	C	T	T	rs150596900		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:10033879C>T	uc002wno.3	+	8	2383	c.1990C>T	c.(1990-1992)Cct>Tct	p.P664S	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.P664S|ANKRD5_uc010gbz.3_Missense_Mutation_p.P475S	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	664							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						AGGCAAGACACCTCCTATACT	0.348000														113			21		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104176567	104176568	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104176567_104176568GG>AT	uc001kvg.1	-	1	755_756	c.228_229CC>AT	c.(226-231)ccccgt>ccATgt	p.R77C	PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.R77C|PSD_uc001kvi.1_Missense_Mutation_p.R77C|FBXL15_uc001kvj.1_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	77	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGAGCAACACGGGGTGAGGGGG	0.673000														68			32		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87069667	87069667	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87069667C>T	uc003uiv.1	-	12	1484	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	ABCB4_uc003uiw.1_Missense_Mutation_p.E470K|ABCB4_uc003uix.1_Missense_Mutation_p.E470K	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	470	ABC transporter 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCAATGATTTCCCTCAGATAG	0.358000														50			28		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51217155	51217155	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51217155C>T	uc002psx.1	-	4	711	c.692G>A	c.(691-693)cGa>cAa	p.R231Q		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	231					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCACAGGGTTCGAATCACCTC	0.647000														39			17		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8654132	8654132	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8654132C>T	uc002mkj.1	-	17	2426	c.2152G>A	c.(2152-2154)Ggg>Agg	p.G718R	ADAMTS10_uc002mki.1_Missense_Mutation_p.G205R|ADAMTS10_uc002mkk.1_Missense_Mutation_p.G350R	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	718	Spacer.				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						TCACCGGCCCCAGGTGAGGCT	0.637000														54			18		0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1775232	1775232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1775232G>A	uc001luc.2	-	6	1097	c.964C>T	c.(964-966)Cag>Tag	p.Q322*	MOB2_uc001ltq.2_Intron	NM_001909	NP_001900	P07339	CATD_HUMAN	Homo sapiens cathepsin D (CTSD), mRNA.	322					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCTCGCCCTGAATCAGCGGC	0.692000														10			9		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146805352	146805352	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:146805352G>A	uc003weu.2	+	4	1180	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	222	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.E222Q(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTCTGAAAGTGAAGGAGTAAT	0.398000										HNSCC(39;0.1)				34			23		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408708	10408708	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10408708G>A	uc002gmo.3	-	19	2389	c.2295C>T	c.(2293-2295)acC>acT	p.T765T	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	765	Actin-binding (By similarity).|Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATATTACCTTGGTGTGACCAA	0.408000														81			44		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179562850	179562850	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179562850G>A	uc010pnp.2	+	2	1006	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	TDRD5_uc021pfm.1_Missense_Mutation_p.R163Q|TDRD5_uc001gnf.2_Missense_Mutation_p.R163Q|TDRD5_uc021pfn.1_Missense_Mutation_p.R163Q	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	163	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGATTTGGACGATCATTCCAA	0.408000														123			8		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029625	13029625	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:13029625C>T	uc002wod.1	+	1	439	c.150C>T	c.(148-150)ctC>ctT	p.L50L	SPTLC3_uc002woc.3_Silent_p.L50L	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	50					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	ATGATAAGCTCATTGTTGAAT	0.358000														182			62		0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105763016	105763016	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105763016C>T	uc001kxo.1	+	8	2114	c.2080C>T	c.(2080-2082)Cct>Tct	p.P694S	SLK_uc001kxp.1_Missense_Mutation_p.P694S	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	694					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TAAAAAAGAGCCTGAAGTTAC	0.368000														95			30		0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69352210	69352210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:69352210G>A	uc001xkl.3	-	11	1627	c.1317C>T	c.(1315-1317)gcC>gcT	p.A439A	ACTN1_uc001xkk.3_Silent_p.A35A|ACTN1_uc010ttb.2_Silent_p.A374A|ACTN1_uc001xkm.3_Silent_p.A439A|ACTN1_uc001xkn.3_Silent_p.A439A|ACTN1_uc010ttc.2_Silent_p.A24A|ACTN1_uc001xko.1_Silent_p.A374A|ACTN1_uc010ttd.1_Silent_p.A418A	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	439	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CACTCTCGAAGGCCTCATGCT	0.617000														40			12		0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22348106	22348106	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:22348106G>A	uc003svg.3	-	4	386	c.73C>T	c.(73-75)Caa>Taa	p.Q25*		NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	0					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TAAGTATCTTGAAAGTATAGA	0.294000														8			5		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2040308	2040308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2040308C>T	uc003wpx.4	+	15	2101	c.1963C>T	c.(1963-1965)Ctc>Ttc	p.L655F	MYOM2_uc011kwi.2_Missense_Mutation_p.L80F	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	655	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGGAACCAACCTCTGGGAGCC	0.612000														77			11		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38925448	38925448	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38925448G>A	uc003jln.2	+	14	2589	c.2187G>A	c.(2185-2187)acG>acA	p.T729T	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	729	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTACGTTCACGAAGGTCACGA	0.433000														114			11		0	0	1	0	0
GNA14	9630	broad.mit.edu	37	9	80144023	80144023	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:80144023C>T	uc004aku.3	-	1	794	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_004297	NP_004288	O95837	GNA14_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 14 (GNA14), mRNA.	91					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						CTTAGCGTGTCCATCGCTCTG	0.478000														185			39		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102959618	102959618	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:102959618G>A	uc002tbu.1	+	6	1076	c.805G>A	c.(805-807)Gag>Aag	p.E269K	IL1RL1_uc010ywa.2_Missense_Mutation_p.E152K|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.E269K	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	269	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AATTCAACAAGAGGAAGGGCA	0.418000														132			30		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233353658	233353659	+	Missense_Mutation	DNP	GC	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233353658_233353659GC>AA	uc001hvl.2	-	11	2912_2913	c.2677_2678GC>TT	c.(2677-2679)gcc>TTc	p.A893F	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript|PCNXL2_uc001hvq.1_Missense_Mutation_p.A192F	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	893						integral to membrane		p.P892P(1)		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)				TATTGGTGAGGCGGGGTCAGGC	0.436000														34			5		0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962195	165962195	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:165962195G>A	uc003iqy.1	+	2	1141	c.971G>A	c.(970-972)cGa>cAa	p.R324Q	TRIM60_uc010iqx.1_Missense_Mutation_p.R324Q|TRIM60_uc021xty.1_Missense_Mutation_p.R324Q	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	324	B30.2/SPRY.					intracellular	zinc ion binding	p.R324Q(2)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AGAAAAAAACGAAACATTTGT	0.418000														109			25		0	0	1	0	0
ANKRD26P3	100101938	broad.mit.edu	37	13	19868687	19868687	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19868687C>T	uc010tck.2	-	12		c.1941G>A								Homo sapiens ankyrin repeat domain 26 pseudogene 3 (ANKRD26P3), non-coding RNA.																		CCTGAGAATTCCTTTTCCTTC	0.363000														13			5		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316938	30316938	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:30316938C>T	uc009xle.2	-	2	2276	c.2139G>A	c.(2137-2139)ccG>ccA	p.P713P	KIAA1462_uc001iux.3_Silent_p.P713P|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.P575P	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	713								p.P713R(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGCACGACTCGGCCCTCCCA	0.572000														45			19		0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155258222	155258222	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155258222C>T	uc001fjz.1	+	7	2301	c.2293C>T	c.(2293-2295)Ccc>Tcc	p.P765S	HCN3_uc010pfz.1_Missense_Mutation_p.P460S	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	765	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCAGCCACACCCCGGGGTCT	0.587000														95			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584835	179584835	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179584835G>A	uc021vsy.1	-	77	20027	c.19802C>T	c.(19801-19803)tCa>tTa	p.S6601L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3262L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7528	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V6601A(1)		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)			ATCAATGAATGAAATCCTGGT	0.428000														86			10		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10615137	10615137	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:10615137G>A	uc010rcc.1	-	16	2463	c.2077C>T	c.(2077-2079)Cgc>Tgc	p.R693C	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Missense_Mutation_p.R685C|MRVI1_uc001miw.2_Missense_Mutation_p.R684C|MRVI1_uc001mix.3_Missense_Mutation_p.R378C|MRVI1_uc001miz.2_Missense_Mutation_p.R602C|MRVI1_uc010rcd.1_Missense_Mutation_p.R487C|MRVI1_uc009ygd.1_Missense_Mutation_p.R378C|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	666					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		ACCCTCCGGCGAGGCATATTC	0.512000														40			13		0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7714547	7714547	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:7714547G>A	uc003gkb.4	+	14	1956	c.1956G>A	c.(1954-1956)gaG>gaA	p.E652E	SORCS2_uc011bwi.2_Silent_p.E480E	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	652						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GCGGCGAGGAGGACTACAGCT	0.637000														22			11		0	0	1	0	0
AK308867	0	broad.mit.edu	37	16	70267406	70267406	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:70267406G>A	uc010cfp.1	-	4		c.449C>T								Homo sapiens cDNA, FLJ98908.																		TGCACTAGTTGAACACGGCAA	0.378000														13			12		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541199	55541199	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55541199C>T	uc003xsd.1	+	3	4905	c.4757C>T	c.(4756-4758)cCa>cTa	p.P1586L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1586					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATCAAAAGTCCAGTGACTTCT	0.403000														55			42		0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47717316	47717316	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47717316G>A	uc001crd.1	-	16	3514	c.3359C>T	c.(3358-3360)aCc>aTc	p.T1120I	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.T1073I|STIL_uc010omo.1_Missense_Mutation_p.T1102I|STIL_uc001crc.1_Missense_Mutation_p.T1119I|STIL_uc001cre.1_Missense_Mutation_p.T1119I	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	1119					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)				ATATTTTTTGGTTGCAAATGA	0.373000														169			71		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179665278	179665278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179665278C>T	uc021vsy.1	-	3	652	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	TTN_uc021vsz.1_Missense_Mutation_p.E143K|TTN_uc021vta.1_Missense_Mutation_p.E143K|TTN_uc021vtb.1_Missense_Mutation_p.E143K|TTN_uc002unb.2_Missense_Mutation_p.E143K|TTN_uc002und.3_Missense_Mutation_p.E143K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	143	Ig-like 2.						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)			CTCTGGATTTCGGCTCCATCC	0.502000														109			44		0	0	1	0	0
NXF2	56001	broad.mit.edu	37	X	101620165	101620165	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:101620165G>A	uc022cav.1	-	19	2262	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	NXF2_uc004eiz.4_Silent_p.F339F|NXF2_uc004ejb.4_Silent_p.F427F|NXF2_uc004eiy.4_Silent_p.F427F	NM_001099686	NP_001093156	Q9GZY0	NXF2_HUMAN	Homo sapiens nuclear RNA export factor 2B (NXF2B), mRNA.	427	NTF2.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding			endometrium(2)|lung(2)	4						CCTTGGGGTCGAAGGGAATAG	0.572000														56			19		0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155148391	155148391	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155148391G>A	uc001fhs.1	+	2	436	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	KRTCAP2_uc001fho.3_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc010pez.1_Missense_Mutation_p.R105Q|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.R118Q|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_5'UTR|TRIM46_uc001fhu.1_Missense_Mutation_p.R95Q|TRIM46_uc009wpg.1_Missense_Mutation_p.R105Q|TRIM46_uc009wpf.2_3'UTR|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	118						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGGAGGAAGCGAGGTGCTTTG	0.582000														192			90		0	0	1	0	0
FAM189A2	9413	broad.mit.edu	37	9	72000820	72000820	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:72000820C>T	uc010mon.1	+	8	917	c.813C>T	c.(811-813)acC>acT	p.T271T	FAM189A2_uc004ahg.2_Silent_p.T271T|FAM189A2_uc010moo.1_Silent_p.T106T	NM_001127608	NP_004807	Q15884	F1892_HUMAN	Homo sapiens family with sequence similarity 189, member A2 (FAM189A2), transcript variant 2, mRNA.	271						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCTTGAGGACCAGGTCGAAGA	0.547000														33			10		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19339087	19339087	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19339087C>T	uc002nlz.3	+	7	2757	c.2658C>T	c.(2656-2658)gcC>gcT	p.A886A	NCAN_uc010ecc.1_Silent_p.A450A	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	886					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GAGTTCCAGCCATGTCTACAC	0.602000														98			32		0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47583854	47583854	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:47583854C>T	uc002ioz.4	+	2	527	c.402C>T	c.(400-402)ctC>ctT	p.L134L		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	134					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCTCGGGCCTCGTGTTCTCCT	0.692000														20			9		0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7811414	7811414	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:7811414G>A	uc011bwk.1	-	8	1254	c.981C>T	c.(979-981)atC>atT	p.I327I	AFAP1_uc003gkg.1_Silent_p.I327I	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	327						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CCAGACTGATGATCTTGGTGA	0.498000														40			22		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175334383	175334383	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175334383G>A	uc001gkp.1	-	9	2431	c.2350C>T	c.(2350-2352)Cat>Tat	p.H784Y	TNR_uc009wwu.1_Missense_Mutation_p.H784Y	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	784	Fibronectin type-III 6.				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)					GAGGTCACATGAGAAAAGTGC	0.507000														32			16		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531185	140531185	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140531185C>T	uc003lir.3	+	0	1347	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	449	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCGCCTTCACCCAAACCT	0.582000														176			72		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7670265	7670265	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7670265C>T	uc002mgu.4	+	1	403	c.302C>T	c.(301-303)cCc>cTc	p.P101L	CAMSAP3_uc002mgv.4_Missense_Mutation_p.P101L	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	101					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCCCCCAACCCCTCTGCACTG	0.682000														129			25		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102711298	102711298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102711298G>A	uc001phj.1	-	4	717	c.652C>T	c.(652-654)Cat>Tat	p.H218Y		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	218					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CCAATTTCATGAGCAGCAACG	0.423000														80			33		0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52880906	52880906	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:52880906G>A	uc003pbh.2	-	8	1296	c.806C>T	c.(805-807)cCc>cTc	p.P269L	ICK_uc003pbi.2_Missense_Mutation_p.P269L|ICK_uc003pbj.3_Missense_Mutation_p.P269L	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	269	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TCGTTTCTTGGGATCCCACTG	0.408000														79			38		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21470000	21470000	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:21470000C>T	uc002kuq.3	+	41	5415	c.5329C>T	c.(5329-5331)Ccc>Tcc	p.P1777S	LAMA3_uc002kur.3_Missense_Mutation_p.P1777S|LAMA3_uc002kus.4_Missense_Mutation_p.P168S|LAMA3_uc002kut.4_Missense_Mutation_p.P168S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1777	Domain III A.|Laminin EGF-like 14.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTCGGGAATCCCCAGAAATT	0.493000														120			35		0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33597733	33597733	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:33597733C>T	uc002nug.1	+	9	1527	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	405						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AACGCCTGACCCAGGGACACA	0.522000														69			13		0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182841908	182841908	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:182841908G>A	uc003flh.4	-	5	1436	c.1212C>T	c.(1210-1212)atC>atT	p.I404I		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	404					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			ACCTTAGGCGGATTTTATAGA	0.453000														147			50		0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110466201	110466201	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110466201G>A	uc001dyu.2	+	5	1371	c.958G>A	c.(958-960)Ggg>Agg	p.G320R	CSF1_uc001dyt.2_Missense_Mutation_p.G320R|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Missense_Mutation_p.G320R|CSF1_uc021orj.1_Intron	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	320					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGTACCCCAAGGGACAGAGCT	0.587000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			39		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53839063	53839063	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:53839063G>A	uc003dgv.4	+	44	5802	c.5639G>A	c.(5638-5640)aGg>aAg	p.R1880K	CACNA1D_uc003dgu.4_Missense_Mutation_p.R1900K|CACNA1D_uc003dgy.4_Missense_Mutation_p.R1856K|CACNA1D_uc003dgw.4_Missense_Mutation_p.R1547K|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1880					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GACTCTGAGAGGCCCCGAGGC	0.537000														113			23		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69000035	69000035	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:69000035G>T	uc003xxv.1	+	18	2131	c.2104G>T	c.(2104-2106)Gta>Tta	p.V702L	PREX2_uc003xxu.1_Missense_Mutation_p.V702L|PREX2_uc011lez.1_Missense_Mutation_p.V637L	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	702	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGTGCATGCTGTAGGAAGAGG	0.453000														142			37		1.47244e-24	1.48132e-24	1	1	0
LRMP	4033	broad.mit.edu	37	12	25257389	25257389	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:25257389G>A	uc001rgh.3	+	18	2235	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	LRMP_uc010sja.2_Missense_Mutation_p.E381K|LRMP_uc010sjc.2_Missense_Mutation_p.E381K|LRMP_uc001rgi.3_Intron|LRMP_uc010sjb.2_Missense_Mutation_p.E328K|LRMP_uc010sjd.2_Missense_Mutation_p.E328K	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	437					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)					AGAAAAATGTGAACTAAAGTA	0.403000														41			7		0	0	1	0	0
AK024141	0	broad.mit.edu	37	14	73079283	73079283	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:73079283G>A	uc010arh.1	-	0		c.521C>T								Homo sapiens cDNA FLJ14079 fis, clone HEMBB1002134, weakly similar to ZINC-FINGER PROTEIN NEURO-D4.																		ACGGCAGAGGGAAGGGAGGAA	0.517000														123			43		0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27360233	27360233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27360233C>T	uc002rjb.2	-	2	1545	c.965G>A	c.(964-966)gGg>gAg	p.G322E	PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|C2orf53_uc021vfb.1_Missense_Mutation_p.G322E	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	322										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCTGAGGCCCTGCTTCCTT	0.672000														69			22		0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25812187	25812187	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:25812187C>T	uc001bkk.3	+	7	1599	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V	TMEM57_uc009vru.3_Missense_Mutation_p.A239V|TMEM57_uc009vrv.3_Missense_Mutation_p.A108V	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	466						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCAGGAAGCCCGAAGTTTT	0.428000														119			28		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77359766	77359766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:77359766C>T	uc002ffc.4	-	12	2448	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	ADAMTS18_uc010chc.1_Missense_Mutation_p.E265K|ADAMTS18_uc002ffe.1_Missense_Mutation_p.E373K	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	677	Cys-rich.				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						AAATTACCTTCCACTTTTGTA	0.373000														53			10		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126219690	126219690	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:126219690C>T	uc010hsi.2	-	11	1227	c.1173G>A	c.(1171-1173)acG>acA	p.T391T	UROC1_uc003eiz.2_Silent_p.T331T	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	331					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ACTCCCCCGTCGTGTCCAATT	0.647000														47			12		0	0	1	0	0
MLNR	2862	broad.mit.edu	37	13	49796481	49796481	+	Missense_Mutation	SNP	G	A	A	rs141878008		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:49796481G>A	uc010tgj.2	+	1	1207	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K		NM_001507	NP_001498	O43193	MTLR_HUMAN	Homo sapiens motilin receptor (MLNR), mRNA.	403					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GGGCTACACCGAGACAAGCGC	0.572000														20			4		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130765006	130765006	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:130765006G>A	uc003ysr.3	-	6	1664	c.782C>T	c.(781-783)tCa>tTa	p.S261L		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	261						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						ggtatgaaatgatggtagcaa	0.433000														80			7		0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117152902	117152902	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:117152902C>T	uc001pqt.3	+	10	1673	c.1628C>T	c.(1627-1629)tCt>tTt	p.S543F	RNF214_uc001pqu.3_Missense_Mutation_p.S543F|RNF214_uc010rxf.2_Missense_Mutation_p.S388F	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	543	Pro-rich.						zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GTTAAGGCTTCTGCTGAAACT	0.592000														201			28		0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135392938	135392938	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:135392938C>T	uc003vtb.3	-	2	978	c.289G>A	c.(289-291)Gct>Act	p.A97T	SLC13A4_uc003vta.3_Missense_Mutation_p.A97T	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	97						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TCCACGGCAGCCGCCACGCAG	0.612000														207			37		0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38877095	38877095	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38877095C>T	uc002oij.1	-	2	942	c.807G>A	c.(805-807)ggG>ggA	p.G269G	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.G186G	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Homo sapiens gametogenetin (GGN), mRNA.	269	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCCGCCGCCCCCCAGCGAAG	0.652000														44			17		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169525903	169525903	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169525903G>A	uc001ggg.1	-	5	1078	c.933C>T	c.(931-933)ctC>ctT	p.L311L	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	311	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTTTTGGGGTGAGAGAAGATA	0.478000														62			6		0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420567	11420567	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:11420567C>T	uc001qzs.3	-	2	654	c.616G>A	c.(616-618)Gga>Aga	p.G206R	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	206	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGGGTGGTCCTTCTGGCTTT	0.632000														400			30		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57347305	57347305	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57347305G>A	uc001cyo.2	+	4	784	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	218	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GTACCACTTTGAAGTAAGTCT	0.473000														85			36		0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156667159	156667159	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156667159C>T	uc003lwo.1	+	9	1021	c.939C>T	c.(937-939)ttC>ttT	p.F313F		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	313	SH2.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTATGTGTTCGATTCCATCC	0.458000			T	SYK	peripheral T-cell lymphoma									81			19		0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36995279	36995279	+	Silent	SNP	G	A	A	rs147433704		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:36995279G>A	uc010jwp.1	+	14	1851	c.1680G>A	c.(1678-1680)aaG>aaA	p.K560K	FGD2_uc003ong.2_Silent_p.K282K|FGD2_uc011dtv.1_Silent_p.K188K|FGD2_uc003onj.1_Silent_p.K137K	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	560	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGTGGGGCAAGAGCGGCCCCC	0.637000														133			27		0	0	1	0	0
SETD4	54093	broad.mit.edu	37	21	37412927	37412927	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:37412927G>A	uc002yuw.2	-	7	2383	c.1010C>T	c.(1009-1011)cCa>cTa	p.P337L	SETD4_uc021wiy.1_Missense_Mutation_p.P337L|SETD4_uc002yuu.3_Non-coding_Transcript|SETD4_uc002yux.2_Missense_Mutation_p.P313L	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	Homo sapiens SET domain containing 4 (SETD4), transcript variant 1, mRNA.	337				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).						autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CCTCCAAGATGGTCCATCCCA	0.383000														181			64		0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57496103	57496103	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57496103G>A	uc009zpg.3	-	12	1631	c.1629C>T	c.(1627-1629)caC>caT	p.H543H	STAT6_uc009zpe.3_Silent_p.H494H|STAT6_uc001sna.3_Silent_p.H494H|STAT6_uc009zpf.3_Silent_p.H494H|STAT6_uc010srb.2_Silent_p.H384H|STAT6_uc010src.2_Silent_p.H384H|STAT6_uc010srd.2_Silent_p.H384H	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	494	SH2.				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						ACACAGAACGGTGCTGGAAGG	0.597000														126			54		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45242109	45242109	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:45242109G>A	uc002xsf.2	-	1	407	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	SLC13A3_uc010ghn.2_Nonsense_Mutation_p.Q92*|SLC13A3_uc010zxx.2_Nonsense_Mutation_p.Q25*|SLC13A3_uc010zxw.2_Nonsense_Mutation_p.Q123*|SLC13A3_uc002xsg.2_Nonsense_Mutation_p.Q76*|SLC13A3_uc010gho.2_Nonsense_Mutation_p.Q76*|SLC13A3_uc002xsi.4_Nonsense_Mutation_p.Q76*	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	123						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CTGGCCGGCTGGACTCCAACA	0.562000														49			19		0	0	1	0	0
SECTM1	6398	broad.mit.edu	37	17	80282490	80282490	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:80282490C>T	uc002keo.3	-	2	769	c.371G>A	c.(370-372)aGa>aAa	p.R124K		NM_003004	NP_002995	Q8WVN6	SCTM1_HUMAN	Homo sapiens secreted and transmembrane 1 (SECTM1), mRNA.	124					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|extracellular space|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			TCTGTTATTTCTCTGGTGTCC	0.642000														54			20		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18729423	18729423	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:18729423C>T	uc003wza.3	-	2	1054	c.951G>A	c.(949-951)caG>caA	p.Q317Q		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	317					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTATAGGATGCTGGGTCTCTC	0.502000														136			52		0	0	1	0	0
DDAH1	23576	broad.mit.edu	37	1	85817238	85817238	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:85817238G>A	uc001dlb.3	-	2	589	c.428C>T	c.(427-429)tCc>tTc	p.S143F	DDAH1_uc001dlc.3_Missense_Mutation_p.S40F|LOC646626_uc001dla.2_Intron|DDAH1_uc010osb.2_Missense_Mutation_p.S43F|DDAH1_uc009wco.3_Missense_Mutation_p.S40F	NM_012137	NP_001127917	O94760	DDAH1_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 1 (DDAH1), transcript variant 1, mRNA.	143					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TGTCCTTTTGGAAAGGCCCAC	0.363000														105			12		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018525	161018525	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161018525C>T	uc001fxl.3	-	11	2632	c.2286G>A	c.(2284-2286)caG>caA	p.Q762Q	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Silent_p.Q608Q|ARHGAP30_uc009wtx.3_Silent_p.Q435Q	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	762	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CAGCTTCTACCTGGGCTTCCT	0.488000														304			38		0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21546459	21546459	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:21546459C>T	uc001bek.2	-	18	2377	c.2302G>A	c.(2302-2304)Gaa>Aaa	p.E768K	ECE1_uc001bem.2_Missense_Mutation_p.E752K|ECE1_uc001bej.2_Missense_Mutation_p.E756K|ECE1_uc001bei.2_Missense_Mutation_p.E765K|ECE1_uc010odl.1_Missense_Mutation_p.E736K	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	768					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TACCAGACTTCGCACTTGTGA	0.617000														54			23		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542092	55542092	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55542092G>A	uc003xsd.1	+	3	5798	c.5650G>A	c.(5650-5652)Gat>Aat	p.D1884N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1884					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTCTCTGATGATGCTATTAA	0.408000														80			30		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325516	150325516	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150325516C>T	uc022apv.1	-	2	860	c.380G>A	c.(379-381)gGa>gAa	p.G127E	GIMAP6_uc003whn.3_Missense_Mutation_p.G57E|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	57							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GATGCTGTTTCCTGTTGCACT	0.542000														356			132		0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202245709	202245709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:202245709G>A	uc002uyb.4	-	15	2748	c.2302C>T	c.(2302-2304)Cct>Tct	p.P768S		NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	768				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AGGGATTTAGGGAGAGGCTGG	0.512000														169			16		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153652232	153652232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153652232C>T	uc001fcs.4	+	0	1069	c.648C>T	c.(646-648)gaC>gaT	p.D216D	NPR1_uc010pdz.2_5'Flank	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	216					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TTACGGTGGACCACCTGGAGT	0.652000														10			4		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232120	117232120	+	Silent	SNP	C	T	T	rs121908777		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:117232120C>T	uc003vjd.3	+	13	2031	c.1899C>T	c.(1897-1899)ctC>ctT	p.L633L	CFTR_uc011knq.2_Silent_p.L39L	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	633	ABC transporter 1.		L -> P (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTCAGAACTCCAAAATCTAC	0.348000									Cystic Fibrosis					93			40		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55873040	55873040	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55873040G>A	uc003tqz.2	-	8	1147	c.1030C>T	c.(1030-1032)Caa>Taa	p.Q344*		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	344					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCTGACATTGATCATAGAAC	0.348000														28			12		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25457027	25457027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:25457027G>A	uc002wux.1	-	16	2974	c.2900C>T	c.(2899-2901)tCg>tTg	p.S967L	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	967					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	p.S967L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCCCCTGCACGAAGCGGCCGG	0.687000														56			10		0	0	1	0	0
SRSF5	6430	broad.mit.edu	37	14	70238135	70238135	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70238135C>T	uc001xll.3	+	8	2227	c.776C>T	c.(775-777)tCc>tTc	p.S259F	SRSF5_uc001xlo.3_Missense_Mutation_p.S259F|SRSF5_uc001xlp.3_Missense_Mutation_p.S259F	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	Homo sapiens serine/arginine-rich splicing factor 5 (SRSF5), transcript variant 2, mRNA.	259	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding|protein binding			large_intestine(1)|liver(1)	2						CGCCAGAGGTCCCGGTCCCGA	0.463000														151			60		0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187153312	187153312	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187153312C>A	uc003iyy.3	+	2	161	c.90C>A	c.(88-90)ttC>ttA	p.F30L	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_5'UTR	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	30	Apple 1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.F30C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AAAACGCCTTCTTCAGAGGTG	0.383000														117			50		3.28156e-27	3.30169e-27	1	1	0
GON4L	54856	broad.mit.edu	37	1	155774872	155774872	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155774872G>A	uc001flz.2	-	10	1610	c.1513C>T	c.(1513-1515)Ccc>Tcc	p.P505S	GON4L_uc001fly.1_Missense_Mutation_p.P505S|GON4L_uc009wrh.1_Missense_Mutation_p.P505S|GON4L_uc001fma.1_Missense_Mutation_p.P505S|GON4L_uc001fmc.3_Missense_Mutation_p.P505S|GON4L_uc001fmd.4_Missense_Mutation_p.P505S|GON4L_uc009wri.3_Missense_Mutation_p.P91S|GON4L_uc009wrj.2_Missense_Mutation_p.P20S|GON4L_uc001fme.3_Missense_Mutation_p.P333S|GON4L_uc001fmf.3_Missense_Mutation_p.P199S	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	505					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGGCCCAGGGGAACATCTTTC	0.498000														101			41		0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67694195	67694195	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67694195G>A	uc002etq.4	-	0	524	c.187C>T	c.(187-189)Ccg>Tcg	p.P63S	ACD_uc002etp.4_Missense_Mutation_p.P63S|ACD_uc002etr.4_Missense_Mutation_p.P63S|ACD_uc010vjt.1_Missense_Mutation_p.P53S|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	63					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.L62F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCTTTCCTCGGAAGAGGAAGC	0.741000														35			5		0	0	1	0	0
ABO	28	broad.mit.edu	37	9	136131706	136131706	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:136131706C>T	uc004cda.1	-	7	434	c.409G>A	c.(409-411)Gag>Aag	p.E137K	ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_5'UTR|ABO_uc010nag.1_5'UTR	NM_020469	NP_065202	P16442	BGAT_HUMAN	Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.	138					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AAGTGCTTCTCCGCCGTCTCC	0.692000														66			24		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234094533	234094533	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234094533G>A	uc010zmo.2	+	19	2386	c.2233G>A	c.(2233-2235)Ggg>Agg	p.G745R	INPP5D_uc010zmp.2_Missense_Mutation_p.G744R	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	774					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)		AGGAAGTGAGGGGGAGCTGGT	0.458000														23			7		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70555477	70555477	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:70555477G>A	uc001dep.3	+	22	4436	c.4406G>A	c.(4405-4407)gGa>gAa	p.G1469E	LRRC7_uc009wbg.3_Missense_Mutation_p.G753E|LRRC7_uc001deq.3_Missense_Mutation_p.G663E	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1469	PDZ.					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						AGTGGACAAGGAAATCCATTC	0.303000														77			23		0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15826515	15826515	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:15826515G>A	uc003gol.1	+	2	482	c.375G>A	c.(373-375)tgG>tgA	p.W125*	CD38_uc021xmk.1_Intron	NM_001775	NP_001766	P28907	CD38_HUMAN	Homo sapiens CD38 molecule (CD38), mRNA.	125					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	NAD+ nucleosidase activity|binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TTCTTCTTTGGAGCAGAATAA	0.388000														86			19		0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60183867	60183867	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60183867G>A	uc001npj.3	+	4	1991	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	MS4A14_uc001npi.3_Missense_Mutation_p.E364K|MS4A14_uc001npn.3_Missense_Mutation_p.E214K|MS4A14_uc001npk.3_Missense_Mutation_p.E459K|MS4A14_uc001npl.3_Missense_Mutation_p.E214K|MS4A14_uc001npm.3_Missense_Mutation_p.E214K	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	476	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ATCTGAGGAGGAACTCCATAG	0.383000														98			12		0	0	1	0	0
OR1L6	392390	broad.mit.edu	37	9	125512489	125512489	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125512489C>T	uc022bna.1	+	0	363	c.363C>T	c.(361-363)atC>atT	p.I121I		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						CTATGGCCATCGACCGGCTGG	0.527000														143			20		0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42739045	42739045	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42739045G>A	uc003clw.3	-	7	967	c.820C>T	c.(820-822)Ccc>Tcc	p.P274S	HHATL_uc003clx.3_Missense_Mutation_p.P274S	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	274					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		AGGTCGCTGGGGATAGTGAGG	0.612000														89			43		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22089606	22089606	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:22089606C>T	uc001rfh.3	-	0	23	c.3G>A	c.(1-3)atG>atA	p.M1I	ABCC9_uc001rfi.1_Missense_Mutation_p.M1I|ABCC9_uc001rfk.3_Missense_Mutation_p.M1I|ABCC9_uc001rfl.1_Missense_Mutation_p.M1I	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATGAAAGGCTCATTTCTTCTT	0.333000														58			23		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48528861	48528861	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48528861C>T	uc003toq.2	+	47	13235	c.13211C>T	c.(13210-13212)tCc>tTc	p.S4404F	ABCA13_uc010kys.1_Missense_Mutation_p.S1479F|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.S134F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4404					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGTTTTCATTCCCTACCTTCC	0.378000														21			10		0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143563058	143563058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:143563058C>T	uc003ywm.3	+	9	2299	c.2116C>T	c.(2116-2118)Cct>Tct	p.P706S		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	706					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGCCCCACCCCTGGGGACGT	0.607000														14			4		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947903	237947903	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:237947903C>T	uc001hyl.1	+	89	13011	c.12891C>T	c.(12889-12891)ttC>ttT	p.F4297F	RYR2_uc010pya.2_Silent_p.F712F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4297					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	p.V4296M(1)		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)			TCTTGCACTTCGTGGCCAGCG	0.463000														39			16		0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	314141	314141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:314141C>T	uc002cgf.3	+	10	1510	c.1315C>T	c.(1315-1317)Ctc>Ttc	p.L439F	LUC7L_uc021szo.1_Intron|ITFG3_uc002cgg.2_Missense_Mutation_p.L439F|ITFG3_uc010uud.1_Non-coding_Transcript|ITFG3_uc002cgh.3_Missense_Mutation_p.L439F	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	439						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CTTCTGGGGCCTCCACGAGCT	0.701000														19			4		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39672164	39672164	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:39672164C>T	uc021wjc.1	+	0	981	c.981C>T	c.(979-981)ttC>ttT	p.F327F	KCNJ15_uc002ywv.3_Silent_p.F327F|KCNJ15_uc002yww.3_Silent_p.F327F|KCNJ15_uc002ywx.3_Silent_p.F327F	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	327					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	p.D326Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TGGCTGATTTCAGTCAGTTTG	0.443000														69			25		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9333638	9333638	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:9333638G>A	uc001qvl.3	-	14	1809	c.1780C>T	c.(1780-1782)Cgt>Tgt	p.R594C	PZP_uc009zgl.3_Missense_Mutation_p.R463C	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCCACAGCACGAAGGGCACAG	0.587000														35			12		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027077	37027077	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:37027077C>T	uc004ddl.2	+	0	646	c.594C>T	c.(592-594)ctC>ctT	p.L198L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	198										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGTCCTGTCTCCCCCCGGAGC	0.642000														15			21		0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746540	158746540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158746540C>T	uc010pir.2	-	0	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTAATGATTTCCTTGTTACGA	0.408000														174			42		0	0	1	0	0
BTNL2	56244	broad.mit.edu	37	6	32370911	32370911	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32370911G>A	uc003obg.1	-	2	510	c.510C>T	c.(508-510)ttC>ttT	p.F170F	BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	170	Ig-like V-type 2.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GGGGCTCTGGGAACCAGCCCC	0.592000														29			6		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8591700	8591700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8591700C>T	uc002mkg.3	-	22	2732	c.2594G>A	c.(2593-2595)aGg>aAg	p.R865K		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	865						unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGGCAGGGGCCTCCGCGTCGC	0.672000														19			7		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10885926	10885926	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10885926G>A	uc003bvz.3	+	4	685	c.651G>A	c.(649-651)ggG>ggA	p.G217G		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	217					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.G217R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TCTCTGACGGGATCGAGCACA	0.587000														41			19		0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148855070	148855070	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:148855070C>T	uc003qme.1	+	14	2373	c.1898C>T	c.(1897-1899)cCc>cTc	p.P633L	SASH1_uc011eeb.1_Missense_Mutation_p.P394L|SASH1_uc003qmf.1_Missense_Mutation_p.P43L	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	633	SAM 1.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGACGACCACCCCAGCCCAAG	0.527000														43			12		0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70982076	70982076	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:70982076C>T	uc003xym.3	-	1	222	c.20G>A	c.(19-21)aGt>aAt	p.S7N		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CACGGCCTCACTTGGCCGGGG	0.687000														8			3		0	0	1	0	0
ZMYND12	84217	broad.mit.edu	37	1	42901011	42901011	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:42901011G>A	uc001chj.3	-	5	1033	c.763C>T	c.(763-765)Ctc>Ttc	p.L255F	ZMYND12_uc010ojt.2_Missense_Mutation_p.L145F	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN	Homo sapiens zinc finger, MYND-type containing 12 (ZMYND12), transcript variant 1, mRNA.	255						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCTGTGAGAGGACTTGATAG	0.473000														193			71		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43680245	43680245	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43680245C>T	uc002ovu.3	-	2	617	c.486G>A	c.(484-486)aaG>aaA	p.K162K	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.K162K	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	162	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CTAAGACATCCTTATTCTCCC	0.493000														262			92		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884842	23884842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23884842G>A	uc001wjx.3	-	34	5259	c.5153C>T	c.(5152-5154)tCc>tTc	p.S1718F		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1718					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTCACCTGGGAATGCAGCAG	0.597000														54			23		0	0	1	0	0
TM6SF1	53346	broad.mit.edu	37	15	83793490	83793490	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83793490C>T	uc002bjp.3	+	6	779	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	TM6SF1_uc010bmq.3_Missense_Mutation_p.L224F|TM6SF1_uc002bjq.3_Intron|TM6SF1_uc010bmr.3_Intron|TM6SF1_uc002bjr.3_Missense_Mutation_p.L76F	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA.	224						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GGTTGTGTGTCTCCTCCTGGC	0.398000														221			33		0	0	1	0	0
TCEAL2	140597	broad.mit.edu	37	X	101381827	101381827	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:101381827G>A	uc022car.1	+	0	25	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	TCEAL2_uc004eip.3_Missense_Mutation_p.E9K	NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 2 (TCEAL2), mRNA.	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						CAATGAAAATGAAGGAATGCC	0.463000														18			25		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1996226	1996226	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:1996226C>T	uc021qsx.1	-	6	1022	c.791G>A	c.(790-792)tGg>tAg	p.W264*	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	264						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.W264*(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ATCAGGTGTCCATTTTATACC	0.517000														11			3		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27728588	27728588	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27728588G>A	uc002rky.3	+	9	820	c.754G>A	c.(754-756)Gag>Aag	p.E252K	GCKR_uc010ezd.3_Missense_Mutation_p.E252K|GCKR_uc010ylu.2_Missense_Mutation_p.E62K	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	252	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TCTTCAGCCCGAGGGTCTCAG	0.542000														69			30		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52522226	52522226	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52522226C>T	uc003ded.4	+	15	2852	c.2718C>T	c.(2716-2718)atC>atT	p.I906I	NISCH_uc003dee.4_Silent_p.I395I|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	906					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCGCCGCCATCCCCTACTGGC	0.642000														68			21		0	0	1	0	0
CALB2	794	broad.mit.edu	37	16	71411594	71411594	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71411594G>A	uc002faa.4	+	3	366	c.286G>A	c.(286-288)Gag>Aag	p.E96K	CALB2_uc010vme.2_Non-coding_Transcript|CALB2_uc002fac.4_Missense_Mutation_p.E96K	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	96	EF-hand 2.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GCCAACCGAAGAGAACTTCCT	0.552000														71			21		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198585	20198585	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:20198585G>A	uc003sus.4	-	4	1708	c.1399C>T	c.(1399-1401)Cat>Tat	p.H467Y	MACC1_uc010kug.3_Missense_Mutation_p.H467Y	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	467					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AATTGTTGATGAACTACTTCA	0.358000														58			21		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84350822	84350822	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:84350822A>T	uc021zcf.1	-	6	788	c.758T>A	c.(757-759)gTt>gAt	p.V253D	SNAP91_uc003pka.3_Missense_Mutation_p.V253D|SNAP91_uc011dze.2_Missense_Mutation_p.V253D|SNAP91_uc003pkc.3_Missense_Mutation_p.V253D|SNAP91_uc003pkd.3_Missense_Mutation_p.V253D|SNAP91_uc003pkb.3_Missense_Mutation_p.V218D|SNAP91_uc011dzf.1_Missense_Mutation_p.V134D	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	253					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TACCTCTGCAACCTTGAGAAA	0.299000														2			3		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36340552	36340552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36340552C>T	uc002oby.3	-	5	768	c.612G>A	c.(610-612)gtG>gtA	p.V204V		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	204	Ig-like C2-type 2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCGGGGTGTCACCCTGGGAT	0.552000														64			19		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5770965	5770965	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:5770965G>A	uc002mda.3	+	18	1706	c.1645G>A	c.(1645-1647)Gac>Aac	p.D549N	CATSPERD_uc010duj.1_Missense_Mutation_p.D207N	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	549						integral to membrane											GGAATTCTACGACCCCGGCTT	0.547000														72			30		0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839611	27839611	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:27839611G>A	uc022bud.1	+	0	188	c.188G>A	c.(187-189)gGa>gAa	p.G63E	MAGEB10_uc004dbw.3_Missense_Mutation_p.G63E	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	63								p.H62N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AATCCCCATGGACTTCGGGAA	0.498000														8			6		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480586	10480586	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10480586C>T	uc003wtc.3	-	1	355	c.126G>A	c.(124-126)ggG>ggA	p.G42G		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	42					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)		ACCGTGGATCCCCTCGCTTGA	0.652000														61			30		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79267429	79267429	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:79267429C>T	uc010mpk.3	-	10	8651	c.8527G>A	c.(8527-8529)Gaa>Aaa	p.E2843K	PRUNE2_uc011lsk.2_Missense_Mutation_p.E92K|PRUNE2_uc011lsl.2_Missense_Mutation_p.E107K|PRUNE2_uc011lsm.2_Missense_Mutation_p.E107K|PRUNE2_uc004akj.4_Missense_Mutation_p.E296K|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Missense_Mutation_p.E296K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2843					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAATCTGCTTCATCGGGGGTA	0.393000														220			56		0	0	1	0	0
ARHGDIG	398	broad.mit.edu	37	16	332780	332780	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:332780G>A	uc002cgm.1	+	5	719	c.644G>A	c.(643-645)tGg>tAg	p.W215*	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgn.1_5'UTR|PDIA2_uc002cgo.1_5'UTR|PDIA2_uc010bqt.1_5'UTR	NM_001176	NP_001167	Q99819	GDIR3_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) gamma (ARHGDIG), mRNA.	215					Rho protein signal transduction|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCCTGGGAGTGGGGTCTCTGC	0.652000											OREG0003697	type=REGULATORY REGION|Gene=PDIA2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		10			4		0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72857095	72857095	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:72857095G>A	uc003tyc.3	-	17	4406	c.4054C>T	c.(4054-4056)Ctc>Ttc	p.L1352F	BAZ1B_uc022afu.1_5'Flank	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	1352					ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ATCTTGTGGAGGATCTCTTCA	0.532000														58			21		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141215150	141215150	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141215150C>T	uc002tvj.1	-	60	10668	c.9696G>A	c.(9694-9696)ggG>ggA	p.G3232G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3232					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTTGGTTTTCCCATCAGTCC	0.428000										TSP Lung(27;0.18)				144			57		0	0	1	0	0
FBXW9	84261	broad.mit.edu	37	19	12802014	12802014	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12802014G>A	uc010dyx.2	-	4	819	c.819C>T	c.(817-819)acC>acT	p.T273T	FBXW9_uc010xmp.2_Non-coding_Transcript|FBXW9_uc002mum.1_Silent_p.T283T	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA.	283							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TCTTGTCATAGGTGCCAGTCA	0.607000														112			39		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43547729	43547729	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:43547729G>A	uc003tid.1	+	23	4471	c.3866_splice	c.e23+1	p.G1289_splice	HECW1_uc011kbi.1_Splice_Site_p.G1255_splice	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1289	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGGAGAGGAGGGGTGAGGCAC	0.532000														46			6		0	0	1	0	0
ANKRD29	147463	broad.mit.edu	37	18	21209887	21209887	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:21209887G>A	uc002kun.3	-	5	613	c.458C>T	c.(457-459)gCc>gTc	p.A153V	ANKRD29_uc002kuo.3_Missense_Mutation_p.A153V	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN	Homo sapiens ankyrin repeat domain 29 (ANKRD29), mRNA.	153										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACCACCTTGGGCAGCTAGGAA	0.438000														40			4		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47432804	47432804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:47432804C>T	uc002leb.2	-	18	2687	c.2399G>A	c.(2398-2400)gGa>gAa	p.G800E		NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	800	IQ 2.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.R799W(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGCCAGGTGTCCCCGGCAGTA	0.582000														48			8		0	0	1	0	0
GBE1	2632	broad.mit.edu	37	3	81699006	81699006	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:81699006G>A	uc021xav.1	-	3	778	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C	GBE1_uc021xax.1_Missense_Mutation_p.R125C	NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	166					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TCACCTTCACGAACCACATAC	0.333000									Glycogen Storage Disease, type IV					45			14		0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24930354	24930354	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:24930354C>T	uc002rfk.3	+	10	2274	c.2015C>T	c.(2014-2016)tCa>tTa	p.S672L	NCOA1_uc010eye.3_Missense_Mutation_p.S672L|NCOA1_uc002rfi.3_Missense_Mutation_p.S521L|NCOA1_uc002rfj.3_Missense_Mutation_p.S672L|NCOA1_uc002rfl.3_Missense_Mutation_p.S672L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	672	Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTAACTCTTCAGGAGGTTCT	0.488000			T	PAX3	alveolar rhadomyosarcoma									89			31		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1092130	1092130	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1092130G>A	uc001lsx.1	+	29	3976	c.3949G>A	c.(3949-3951)Ggc>Agc	p.G1317S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1317						inner mucus layer|outer mucus layer	protein binding	p.S1317I(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCCAGCAGTGGCAGCGACGA	0.592000														21			9		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48736725	48736725	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48736725G>A	uc002isl.3	+	6	882	c.802G>A	c.(802-804)Gca>Aca	p.A268T	ABCC3_uc002isk.4_Missense_Mutation_p.A268T	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	268					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AAAGCAGACGGCACGGTGAGG	0.622000														69			21		0	0	1	0	0
SUSD3	203328	broad.mit.edu	37	9	95847007	95847007	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:95847007C>T	uc004atb.3	+	4	782	c.746C>T	c.(745-747)cCc>cTc	p.P249L	SUSD3_uc004atc.3_Missense_Mutation_p.P236L	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN	Homo sapiens sushi domain containing 3 (SUSD3), mRNA.	249						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						CCACAACAGCCCGCAGCATAT	0.647000														80			26		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52540748	52540749	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52540748_52540749GG>AA	uc003dej.3	+	17	1945_1946	c.1871_1872GG>AA	c.(1870-1872)agg>aAA	p.R624K	STAB1_uc003dei.1_Missense_Mutation_p.R624K	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	624	FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCGCTGCAGAGGGTAGACGTGA	0.693000														22			5		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377921	77377921	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77377921C>T	uc004ajl.1	-	25	3904	c.3666G>A	c.(3664-3666)ctG>ctA	p.L1222L	TRPM6_uc004ajk.1_Silent_p.L1217L|TRPM6_uc022bib.1_Silent_p.L1217L|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.L178L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1222					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAAGGACTTTCAGGGTATCCA	0.473000														80			24		0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66083207	66083207	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66083207G>A	uc001ohm.1	-	0	1309	c.1292C>T	c.(1291-1293)cCc>cTc	p.P431L		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	431	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	ACTGAGCGGGGGTGGCCAGGT	0.657000														93			58		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48381938	48381938	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48381938C>T	uc001jez.3	-	3	3825	c.3711G>A	c.(3709-3711)gtG>gtA	p.V1237V		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	1237					lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGCTCCGCTTCACCCTCAGCT	0.647000														20			4		0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67223077	67223077	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67223077T>C	uc002erx.1	-	2	294	c.53A>G	c.(52-54)gAg>gGg	p.E18G	EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_5'UTR|EXOC3L1_uc010vje.1_Missense_Mutation_p.E18G|EXOC3L1_uc002ery.1_Missense_Mutation_p.E23G|E2F4_uc002erz.3_5'Flank	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA.	18	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTCTGGCCACTCAGGTCCTGG	0.597000														8			8		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11758700	11758700	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:11758700G>A	uc002rbk.1	+	21	3999	c.3699G>A	c.(3697-3699)gtG>gtA	p.V1233V	GREB1_uc002rbp.1_Silent_p.V231V	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1233						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCTCATCCGTGGCGCCCGCTG	0.672000														22			7		0	0	1	0	0
IGFBP4	3487	broad.mit.edu	37	17	38609376	38609376	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:38609376G>A	uc002hus.3	+	1	801	c.489G>A	c.(487-489)cgG>cgA	p.R163R		NM_001552	NP_001543	P22692	IBP4_HUMAN	Homo sapiens insulin-like growth factor binding protein 4 (IGFBP4), mRNA.	163					DNA metabolic process|signal transduction|skeletal system development					NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGGCGCCCCGGGAGGATGCCC	0.617000														16			16		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74542148	74542148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74542148C>T	uc002sko.1	-	0	5	c.3G>A	c.(1-3)atG>atA	p.M1I	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.M1I|SLC4A5_uc010ffc.1_Missense_Mutation_p.M1I|SLC4A5_uc002skp.1_Missense_Mutation_p.M1I|SLC4A5_uc002sks.1_Missense_Mutation_p.M1I	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	1						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCTTCACCTTCATGACTATAA	0.428000														156			66		0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118307871	118307871	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:118307871G>A	uc001lcm.3	+	4	245	c.202_splice	c.e4-1	p.E68_splice		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	68					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGTCTAAACAGGAAGTTGCCG	0.388000														112			43		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	156195	156195	+	Missense_Mutation	SNP	G	A	A	rs138938524		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156195G>A	uc003jak.2	+	7	1200	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	384					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.E384K(2)|p.E384*(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGAAGTCGCCGAGTTAATTGA	0.582000														75			13		0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183209732	183209732	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183209732C>T	uc003flr.3	-	6	1907	c.1849G>A	c.(1849-1851)Gga>Aga	p.G617R	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_Non-coding_Transcript	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	617										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GACACTGCTCCGGGCACGATC	0.662000														54			13		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6750866	6750866	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:6750866G>A	uc002wmu.1	+	1	878	c.93G>A	c.(91-93)agG>agA	p.R31R		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	31					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	TGGGCCGCAGGAAGTTCGCGG	0.692000														8			6		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41004453	41004453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41004453C>T	uc003jmj.4	-	36	4679	c.4189G>A	c.(4189-4191)Gaa>Aaa	p.E1397K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E952K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1397							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						CTTACATCTTCAAAGAAGGTC	0.458000														96			50		0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10242054	10242054	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10242054G>A	uc003bve.1	+	3	354	c.278_splice	c.e3-1	p.W93_splice		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	93	Death.				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|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TGTTTTCAGGGAAACCGGCTC	0.478000														145			42		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640458	104640458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:104640458C>T	uc003hxe.1	-	0	516	c.375G>A	c.(373-375)gtG>gtA	p.V125V		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	125						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AAGCCAGGTTCACAAGGAAGT	0.537000														57			19		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50534736	50534736	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:50534736G>A	uc001zxz.3	-	11	2052	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	HDC_uc001zxy.3_Silent_p.F313F|HDC_uc010uff.2_Silent_p.F537F	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	570					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.F570L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ACAAGTAACTGAACAGGAAGG	0.537000														152			53		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120430	94120430	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:94120430G>A	uc003poe.3	-	2	862	c.621C>T	c.(619-621)tcC>tcT	p.S207S	EPHA7_uc003pof.3_Silent_p.S207S|EPHA7_uc011eac.2_Silent_p.S207S|EPHA7_uc003pog.4_Silent_p.S207S	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	207	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.W206L(1)|p.S207F(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TCTCAATAATGGACCAGCACT	0.438000														55			5		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113166771	113166771	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113166771G>A	uc010mtz.3	-	38	9839	c.9502C>T	c.(9502-9504)Cgc>Tgc	p.R3168C	SVEP1_uc010mty.3_Missense_Mutation_p.R1094C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3168	Sushi 29.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGGAACCAGCGACCATCTTTC	0.413000														203			111		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171494075	171494075	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171494075C>T	uc010pmg.2	+	9	1431	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S	PRRC2C_uc001ghr.1_Missense_Mutation_p.P391S	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	389							protein C-terminus binding										AGCAAAAGTTCCCTATGGGAA	0.373000														30			8		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141116507	141116507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141116507G>A	uc002tvj.1	-	72	12112	c.11140C>T	c.(11140-11142)Ctt>Ttt	p.L3714F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3714	LDL-receptor class A 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L3714I(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATGGACAAAGAAATTTGACT	0.368000										TSP Lung(27;0.18)				84			35		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698394	17698394	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:17698394C>T	uc002rcl.1	-	0	1313	c.1289G>A	c.(1288-1290)tGg>tAg	p.W430*	RAD51AP2_uc010exn.1_Nonsense_Mutation_p.W421*	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	430										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TAGCCAATTCCATTTTTCTTC	0.289000														21			10		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540842	55540842	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55540842C>T	uc003xsd.1	+	3	4548	c.4400C>T	c.(4399-4401)tCt>tTt	p.S1467F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1467					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E1466*(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAATTGGAATCTTTTGAAGAA	0.378000														70			14		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34004285	34004285	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:34004285C>T	uc003oir.4	-	7	1965	c.1602G>A	c.(1600-1602)aaG>aaA	p.K534K	GRM4_uc011dsn.2_Silent_p.K487K|GRM4_uc010jvh.3_Silent_p.K534K|GRM4_uc010jvi.3_Silent_p.K226K|GRM4_uc003oio.3_Silent_p.K226K|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.K394K|GRM4_uc003oiq.3_Silent_p.K401K|GRM4_uc011dsm.2_Silent_p.K365K	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	534					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AAGGCATGCCCTTCACTGTCT	0.642000														47			18		0	0	1	0	0
TMEM150B	284417	broad.mit.edu	37	19	55824350	55824350	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55824350G>A	uc010esw.1	-	7	752	c.579C>T	c.(577-579)ttC>ttT	p.F193F	TMEM150B_uc010yfu.1_Silent_p.F193F|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	Homo sapiens transmembrane protein 150B (TMEM150B), mRNA.	193						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						CGAAGAGCGCGAACAGCAGCA	0.682000														34			11		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33998741	33998741	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:33998741G>A	uc001bxm.1	-	63	10257	c.10080C>T	c.(10078-10080)tcC>tcT	p.S3360S	CSMD2_uc001bxn.1_Silent_p.S3216S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3216						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTCCTGGCAGGAGTAGATGA	0.652000														27			11		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61828635	61828635	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61828635C>T	uc001jky.3	-	36	12342	c.12004G>A	c.(12004-12006)Gga>Aga	p.G4002R	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.	4002					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						CCACTAATTCCCTTAAAATAT	0.433000														146			65		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7572486	7572486	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:7572486G>A	uc003src.1	-	1	138	c.21C>T	c.(19-21)gtC>gtT	p.V7V	COL28A1_uc011jxe.1_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	7					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGAGATAGAAGACAAAATATC	0.348000														94			46		0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202457675	202457675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:202457675C>T	uc001gya.2	+	13	2015	c.1865C>T	c.(1864-1866)cCt>cTt	p.P622L	PPP1R12B_uc001gyb.1_5'UTR|PPP1R12B_uc001gyc.1_5'UTR	NM_002481	NP_002472	O60237	MYPT2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.	622					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TATCTGACTCCTGTACGGGAT	0.428000														21			4		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74082501	74082501	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:74082501G>A	uc021ulp.1	-	6	3732	c.3414C>T	c.(3412-3414)tcC>tcT	p.S1138S	ZNF516_uc002lmd.3_Intron	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	1138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGGCGTCTGCGGAGGTGGTAT	0.527000														16			6		0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4923295	4923295	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:4923295G>A	uc002gan.2	+	18	2028	c.1671G>A	c.(1669-1671)gtG>gtA	p.V557V		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	557	FHA.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						ATTCAGTGGTGGTCACTCTGG	0.527000														5			8		0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158472759	158472759	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:158472759G>A	uc011kwe.1	-	10	1184	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*	NCAPG2_uc010lqu.1_Nonsense_Mutation_p.R139*|NCAPG2_uc003wnx.1_Nonsense_Mutation_p.R347*|NCAPG2_uc003wnv.1_Nonsense_Mutation_p.R347*|NCAPG2_uc003wnw.1_Non-coding_Transcript	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	347					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GCATTTGATCGAACTTCAGAG	0.363000														114			14		0	0	1	0	0
CDK3	1018	broad.mit.edu	37	17	73998208	73998208	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73998208C>T	uc002jqg.4	+	5	2136	c.384C>T	c.(382-384)ccC>ccT	p.P128P	CDK3_uc010dgt.3_Silent_p.P100P	NM_001258	NP_001249	Q00526	CDK3_HUMAN	Homo sapiens cyclin-dependent kinase 3 (CDK3), mRNA.	100	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						CAGAGCTCCCCCTGCACCTCA	0.597000														56			20		0	0	1	0	0
FBXO2	26232	broad.mit.edu	37	1	11710068	11710068	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11710068G>A	uc009vna.3	-	2	946	c.455C>T	c.(454-456)cCt>cTt	p.P152L	FBXO2_uc001asj.3_Missense_Mutation_p.P152L|FBXO2_uc009vnb.1_Non-coding_Transcript	NM_012168	NP_036300	Q9UK22	FBX2_HUMAN	Homo sapiens F-box protein 2 (FBXO2), mRNA.	152	FBA.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|glycoprotein catabolic process	SCF ubiquitin ligase complex|cytosol|endoplasmic reticulum|membrane|microsome	sugar binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-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)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGTCTCCAGGCAGCTCCTC	0.612000														196			14		0	0	1	0	0
FBXO31	79791	broad.mit.edu	37	16	87377322	87377322	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:87377322G>A	uc002fjw.3	-	3	583	c.539C>T	c.(538-540)cCc>cTc	p.P180L	FBXO31_uc010vot.2_Missense_Mutation_p.P8L|FBXO31_uc002fjv.3_Missense_Mutation_p.P72L	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	Homo sapiens F-box protein 31 (FBXO31), mRNA.	180					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint	SCF ubiquitin ligase complex	cyclin binding	p.R179W(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		ATCGACGTGGGGGTCATGGGG	0.592000														62			10		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24187498	24187498	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24187498G>A	uc003xdy.3	+	11	1056	c.973_splice	c.e11-1	p.D325_splice	ADAM28_uc003xdx.3_Splice_Site_p.D325_splice|ADAM28_uc011kzz.2_Splice_Site_p.D92_splice|ADAM28_uc011laa.2_Splice_Site|ADAM28_uc010lua.3_Splice_Site_p.D12_splice	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	325	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATACCTTTAGGACCACAGCGA	0.408000														100			25		0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5867495	5867495	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:5867495C>T	uc002mdo.4	-	1	413	c.242G>A	c.(241-243)tGg>tAg	p.W81*	FUT5_uc010duo.3_Nonsense_Mutation_p.W81*|FUT5_uc021uno.1_Nonsense_Mutation_p.W81*	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	81					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						AGGCCACGTCCACAGCAGGAT	0.652000														59			17		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51759245	51759245	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51759245C>T	uc001ryk.2	-	3	1008	c.783G>A	c.(781-783)caG>caA	p.Q261Q	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Silent_p.Q261Q	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	261	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCACCTCCGCCTGTGCCACGC	0.672000														52			22		0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26672632	26672633	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26672632_26672633GG>AA	uc001bmd.4	-	1	666_667	c.516_517CC>TT	c.(514-519)taccga>taTTga	p.R173*		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 4.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CGTGTCACTCGGTATTCCTCGA	0.639000														14			3		0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113370	18113370	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:18113370C>T	uc021veh.1	+	0	1095	c.1095C>T	c.(1093-1095)acC>acT	p.T365T	KCNS3_uc002rcv.3_Silent_p.T365T|KCNS3_uc002rcw.3_Silent_p.T365T	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	365	Segment H5 (pore-forming) (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGTGGGCCACCATCAGCATGA	0.557000														69			29		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2573002	2573002	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:2573002C>T	uc002wgf.1	+	7	896	c.881C>T	c.(880-882)cCt>cTt	p.P294L	TMC2_uc002wgg.1_Missense_Mutation_p.P278L|TMC2_uc010zpw.1_Missense_Mutation_p.P126L|TMC2_uc010zpx.1_Missense_Mutation_p.P125L	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	294						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAGACAGTGCCTCGGGCTGAG	0.438000														142			17		0	0	1	0	0
THEM5	284486	broad.mit.edu	37	1	151820663	151820663	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151820663G>A	uc021oyw.1	-	3	702	c.570C>T	c.(568-570)ttC>ttT	p.F190F		NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	Homo sapiens thioesterase superfamily member 5 (THEM5), mRNA.	190							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTTACTTTTTGAACCTGATGT	0.562000														106			37		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182444	140182444	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140182444C>T	uc003lhf.2	+	0	1662	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.F554F	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	568	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.F554F(2)		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)			TGCAGGTGTTCGTGCTGGACG	0.687000														156			19		0	0	1	0	0
LIPJ	142910	broad.mit.edu	37	10	90356112	90356112	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:90356112C>T	uc001kff.3	+	6	829	c.515C>T	c.(514-516)tCc>tTc	p.S172F		NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN	Homo sapiens lipase, family member J (LIPJ), mRNA.	172					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		CCAGTTTTTTCCACAAAGTAC	0.254000														37			15		0	0	1	0	0
FAM55A	120400	broad.mit.edu	37	11	114393141	114393141	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:114393141C>T	uc001ppa.3	-	5	1184	c.767G>A	c.(766-768)tGg>tAg	p.W256*	FAM55A_uc010rxd.2_Nonsense_Mutation_p.W105*	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.	398						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		ATGTTTTTTCCATTGAATCTG	0.373000														83			37		0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94146881	94146881	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94146881C>T	uc003uni.4	+	1	370	c.143C>T	c.(142-144)tCg>tTg	p.S48L	CASD1_uc003unh.2_Missense_Mutation_p.S48L|CASD1_uc003unj.4_Missense_Mutation_p.S48L	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	48						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GGCAATGATTCGTGTGAATAC	0.338000														73			20		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183053786	183053786	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:183053786C>T	uc002uos.3	-	12	1258	c.1174_splice	c.e12-1	p.G392_splice	PDE1A_uc010zfp.1_Splice_Site_p.G288_splice|PDE1A_uc002uoq.1_Splice_Site_p.G392_splice|PDE1A_uc010zfq.1_Splice_Site_p.G392_splice|PDE1A_uc002uor.3_Splice_Site_p.G376_splice|PDE1A_uc002uou.3_Splice_Site_p.G358_splice	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	392	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.G392E(2)|p.G392V(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTCTTTATCTCCCTGGAGAAA	0.393000														101			41		0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39538306	39538306	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39538306C>T	uc002hwm.3	-	0	331	c.319G>A	c.(319-321)Gac>Aac	p.D107N		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	107	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GCCAGGCGGTCGTTCAGGAAC	0.612000														109			17		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209803966	209803966	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:209803966A>T	uc001hhg.3	-	7	1327	c.937T>A	c.(937-939)Tgc>Agc	p.C313S	LAMB3_uc009xco.3_Missense_Mutation_p.C313S|LAMB3_uc001hhh.3_Missense_Mutation_p.C313S|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Missense_Mutation_p.C249S	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	313	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTACTTTGGCATTCATGGGCG	0.617000														64			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179635143	179635143	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179635143C>T	uc021vsy.1	-	34	8601	c.8376G>A	c.(8374-8376)gtG>gtA	p.V2792V	TTN_uc021vsz.1_Silent_p.V2746V|TTN_uc021vta.1_Silent_p.V2746V|TTN_uc021vtb.1_Silent_p.V2746V|TTN_uc002unb.2_Silent_p.V2792V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2792							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)			ACTTACTCTCCACGTGCAGTC	0.438000														77			23		0	0	1	0	0
CSNK1D	1453	broad.mit.edu	37	17	80209291	80209291	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:80209291G>A	uc002kej.3	-	5	1186	c.849C>T	c.(847-849)tcC>tcT	p.S283S	CSNK1D_uc002kei.3_Silent_p.S283S|CSNK1D_uc010wvj.2_Silent_p.S80S|CSNK1D_uc010dil.3_Non-coding_Transcript|CSNK1D_uc002keh.3_Silent_p.S148S|CSNK1D_uc010dim.1_Silent_p.S80S	NM_001893	NP_001884	P48730	KC1D_HUMAN	Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA.	283					DNA repair|G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|circadian regulation of gene expression|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CGTAGTCATAGGAGAAGCCCT	0.532000														40			12		0	0	1	0	0
C20orf96	140680	broad.mit.edu	37	20	257964	257964	+	Missense_Mutation	SNP	T	C	C	rs144025240		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:257964T>C	uc002wde.2	-	6	794	c.626A>G	c.(625-627)aAc>aGc	p.N209S	C20orf96_uc021vzl.1_Missense_Mutation_p.N208S|C20orf96_uc010zpi.2_Missense_Mutation_p.N156S|C20orf96_uc010zpj.1_Missense_Mutation_p.N174S|C20orf96_uc010zpk.2_Missense_Mutation_p.N147S	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	Homo sapiens chromosome 20 open reading frame 96 (C20orf96), transcript variant 1, mRNA.	209										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCTCAGGAAGTTCACTTCCTC	0.537000														209			90		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39062705	39062705	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39062705C>T	uc002oit.3	+	94	13923	c.13793C>T	c.(13792-13794)gCt>gTt	p.A4598V	RYR1_uc002oiu.3_Missense_Mutation_p.A4593V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4598					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCTCAGCTGCTGGGGATGTG	0.602000														71			35		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800631	27800631	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27800631C>T	uc002rkz.4	+	0	1243	c.1192C>T	c.(1192-1194)Caa>Taa	p.Q398*		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	398										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTTAGGACATCAAGTCCCAGA	0.438000														71			37		0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89660999	89660999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:89660999C>T	uc001dnb.3	-	2	460	c.344G>A	c.(343-345)gGc>gAc	p.G115D		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	115						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		ATCGCCCAGGCCCTCGGTGTC	0.512000														81			32		0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570398	22570398	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:22570398C>T	uc003nds.3	+	0	721	c.594C>T	c.(592-594)ctC>ctT	p.L198L		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA.	198	Glu-rich.			L -> P (in Ref. 1; BAB71292).						kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					GTCCGTTCCTCGTGGCGGTGG	0.746000														6			3		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655306	46655306	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:46655306C>T	uc003bhh.3	-	0	3914	c.3914G>A	c.(3913-3915)cGa>cAa	p.R1305Q		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1305	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCTAGGCGATCGACCCTCGTT	0.453000														105			16		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13882840	13882840	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13882840G>A	uc003jfd.2	-	20	3301	c.3259C>T	c.(3259-3261)Caa>Taa	p.Q1087*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1087	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)					CATTTACCTTGAAGTTCATTT	0.303000									Kartagener syndrome					46			6		0	0	1	0	0
C2orf42	54980	broad.mit.edu	37	2	70387902	70387902	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:70387902G>A	uc002sgh.3	-	8	1699	c.1371C>T	c.(1369-1371)acC>acT	p.T457T		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	457										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TAAAGCTACGGGTGATTTCCA	0.403000														45			17		0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46950876	46950876	+	Missense_Mutation	SNP	G	A	A	rs56138890		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46950876G>A	uc002zhl.2	-	3	1112	c.959C>T	c.(958-960)aCg>aTg	p.T320M	SLC19A1_uc010gpy.1_Missense_Mutation_p.T320M|SLC19A1_uc011aft.2_Missense_Mutation_p.T280M|SLC19A1_uc002zhm.2_Missense_Mutation_p.T320M|SLC19A1_uc010gpz.2_Missense_Mutation_p.T199M	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	320					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GGCGAAGGACGTGATGGCGCC	0.701000														14			5		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906819	13906819	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:13906819G>A	uc001rbt.2	-	2	621	c.442C>T	c.(442-444)Cca>Tca	p.P148S		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	148					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCAATTGATGGGCCAAACTGG	0.398000														45			5		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159170712	159170712	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159170712G>A	uc001ftl.2	+	8	1376	c.1197G>A	c.(1195-1197)taG>taA	p.*399*	CADM3_uc001ftk.2_Silent_p.*433*|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	0					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)					ATTTCATCTAGAGGCGCCTGC	0.642000														63			7		0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75203197	75203197	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:75203197G>A	uc003uds.2	-	7	659	c.614C>T	c.(613-615)tCc>tTc	p.S205F	HIP1_uc011kfz.2_Missense_Mutation_p.S205F	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	205					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CATGTCCAGGGAGTTGAATAC	0.572000			T	PDGFRB	CMML									30			14		0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19516253	19516253	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:19516253C>T	uc003zoa.2	-	9	2037	c.1884G>A	c.(1882-1884)atG>atA	p.M628I	SLC24A2_uc003zob.2_Missense_Mutation_p.M611I	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	628					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GGATTTTGTTCATTCGCCACT	0.502000														88			60		0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40277264	40277264	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:40277264G>A	uc022acd.1	+	6	560	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	C7orf10_uc003thn.2_Missense_Mutation_p.R179Q|C7orf10_uc003tho.2_Missense_Mutation_p.R179Q	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	179							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ATTTCTCAGCGAGCTGGTTAT	0.433000														55			26		0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45204610	45204610	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:45204610T>G	uc001myo.3	+	4	773	c.524T>G	c.(523-525)aTc>aGc	p.I175S		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	175	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AAGGGCCACATCTTCGGCCCC	0.597000											OREG0020926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			8		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31463235	31463235	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:31463235G>A	uc010dmi.3	-	9	1994	c.1696C>T	c.(1696-1698)Cta>Tta	p.L566L	NOL4_uc010xbs.2_Silent_p.L281L|NOL4_uc002kxr.4_Silent_p.L338L|NOL4_uc010xbt.2_Silent_p.L492L|NOL4_uc010dmh.3_Silent_p.L428L|NOL4_uc010xbu.2_Silent_p.L502L|NOL4_uc002kxt.4_Silent_p.L464L	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	566						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						TTCAGATTTAGCAGACCCCCT	0.393000														194			80		0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230746	56230746	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56230746G>A	uc010rjj.2	-	0	132	c.132C>T	c.(130-132)atC>atT	p.I44I	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TAATCAAAATGATCATACCAA	0.473000														47			16		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93982115	93982115	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:93982115C>T	uc003poe.3	-	5	1591	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	EPHA7_uc003pof.3_Missense_Mutation_p.M450I|EPHA7_uc011eac.2_Missense_Mutation_p.M450I	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	450	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTCTCTCCTTCATTACTCCAC	0.438000														56			57		0	0	1	0	0
C1orf114	57821	broad.mit.edu	37	1	169388371	169388371	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169388371C>T	uc001gga.1	-	3	1263	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	C1orf114_uc001gfz.1_Silent_p.E365E|C1orf114_uc009wvq.1_Silent_p.E365E|C1orf114_uc001ggb.3_Silent_p.E365E	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	365										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TTTTTTCTTTCTCTTCTTCTA	0.323000														58			5		0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239751	21239751	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21239751G>A	uc010mis.3	-	0	228	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S	IFNA14_uc003zoo.1_Non-coding_Transcript	NM_002172	NP_002163	P01570	IFN14_HUMAN	Homo sapiens interferon, alpha 14 (IFNA14), mRNA.	62					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCCTCCTGGGGAAATTCAAAG	0.468000														106			67		0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50154532	50154532	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50154532C>T	uc002poq.3	+	6	1010	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	296					RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GAGCATCAGCCGCATCTCGGA	0.642000														23			14		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433089	104433089	+	Silent	SNP	G	A	A	rs143230604	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104433089G>A	uc004bbp.2	-	2	2206	c.1605C>T	c.(1603-1605)ggC>ggT	p.G535G	GRIN3A_uc004bbq.1_Silent_p.G535G	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	535					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CAGGGCACAAGCCTTCATCAT	0.473000														55			34		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70064186	70064186	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:70064186C>T	uc010kak.3	+	25	3797	c.3521C>T	c.(3520-3522)tCg>tTg	p.S1174L	BAI3_uc003pev.4_Missense_Mutation_p.S1174L|BAI3_uc011dxx.2_Missense_Mutation_p.S380L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1174	Poly-Ser.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1174S(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCAGATTCTTCGAGTTCGTTT	0.393000														68			61		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20337703	20337703	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20337703G>A	uc002dgv.3	-	1	134	c.51C>T	c.(49-51)gcC>gcT	p.A17A	GP2_uc002dgw.3_Silent_p.A17A|GP2_uc002dgx.3_Silent_p.A17A|GP2_uc002dgy.3_Silent_p.A17A	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	17						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGAGACCAAGGCCAGCCACA	0.532000														46			18		0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910131	35910131	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35910131C>T	uc003jjt.1	-	3	457	c.362G>A	c.(361-363)aGa>aAa	p.R121K	CAPSL_uc003jju.1_Missense_Mutation_p.R121K	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	121	EF-hand 3.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GTCTAACTTTCTAAAAGCTTG	0.378000														96			29		0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159166008	159166008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:159166008C>T	uc002tzq.3	-	8	1361	c.1047G>A	c.(1045-1047)atG>atA	p.M349I	CCDC148_uc002tzr.3_Missense_Mutation_p.M197I|CCDC148_uc010foh.3_Missense_Mutation_p.M62I|CCDC148_uc010fok.2_Missense_Mutation_p.M263I|CCDC148_uc010foi.2_Missense_Mutation_p.M296I|CCDC148_uc010foj.2_Missense_Mutation_p.M197I	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	349										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ACATGCTCTCCATTTCATGTG	0.403000														77			9		0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2842728	2842728	+	Silent	SNP	C	T	T	rs141872607		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:2842728C>T	uc002whe.3	+	10	1071	c.1023C>T	c.(1021-1023)gcC>gcT	p.A341A	PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Intron|VPS16_uc002whg.3_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	341					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome		p.A341A(2)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TCAAAATTGCCTCAATGGCCC	0.597000														18			13		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103654	53103654	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:53103654G>A	uc003tpz.3	+	0	306	c.290G>A	c.(289-291)tGg>tAg	p.W97*		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	97								p.G96G(1)|p.G96D(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCCGAGGGCTGGAGGCGCCCT	0.711000														22			14		0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131924381	131924381	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:131924381C>T	uc003kxi.3	+	7	1455	c.1054C>T	c.(1054-1056)Cgt>Tgt	p.R352C	RAD50_uc003kxh.3_Missense_Mutation_p.R213C	NM_005732	NP_005723	Q92878	RAD50_HUMAN	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.	352					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTAAAAGGTCGTCTACAGCT	0.368000								Homologous recombination						25			33		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815131	106815131	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:106815131G>A	uc003ymd.3	+	7	2844	c.2821G>A	c.(2821-2823)Ggc>Agc	p.G941S	ZFPM2_uc011lhs.2_Missense_Mutation_p.G672S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	941					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AACCCTGCAAGGCTTGAAGGT	0.408000														28			10		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90249169	90249169	+	RNA	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:90249169C>A	uc010yts.2	+	39		c.5004C>A								Parts of antibodies, mostly variable regions.																		GACAGAGTCACCATCACTTGC	0.473000														188			45		4.75955e-12	4.77909e-12	1	1	0
BRCA2	675	broad.mit.edu	37	13	32907432	32907432	+	Missense_Mutation	SNP	C	T	T	rs80358469		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:32907432C>T	uc001uub.1	+	9	2044	c.1817C>T	c.(1816-1818)cCg>cTg	p.P606L	BRCA2_uc001uua.1_Missense_Mutation_p.P483L	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	606					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding	p.I605fs*11(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAAAATACCGAAAGACCAA	0.318000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				57			18		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059419	248059419	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248059419C>T	uc010pzb.2	+	0	531	c.531C>T	c.(529-531)ttC>ttT	p.F177F	OR2W3_uc001idp.1_Silent_p.F177F	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGACCACTTCCTGCGTGAGA	0.647000														94			18		0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461804	11461804	+	Missense_Mutation	SNP	C	T	T	rs150367358	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:11461804C>T	uc001qzf.1	-	2	147	c.113G>A	c.(112-114)gGa>gAa	p.G38E	PRB4_uc001qzt.3_Missense_Mutation_p.G38E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	38	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			LISGKPEGR -> IIPPKPPG (in Ref. 5; AA sequence).		extracellular region		p.E37E(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGGGCGTCGTCCTTCTGGCTT	0.537000										HNSCC(22;0.051)				279			31		0	0	1	0	0
LCN9	392399	broad.mit.edu	37	9	138555222	138555222	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:138555222G>A	uc004cgk.1	+	0	55	c.55G>A	c.(55-57)Gat>Aat	p.D19N		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	Homo sapiens lipocalin 9 (LCN9), mRNA.	19						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		CCAGGAGTTCGATCCCCACAC	0.627000														56			14		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113208245	113208245	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113208245G>A	uc010mtz.3	-	25	4672	c.4335C>T	c.(4333-4335)ctC>ctT	p.L1445L	SVEP1_uc010mua.1_Silent_p.L1445L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1445	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.M1444L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAGAGATGGGAGCATGCCAT	0.438000														45			13		0	0	1	0	0
CYTL1	54360	broad.mit.edu	37	4	5021056	5021056	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:5021056G>A	uc003gig.3	-	0	142	c.117C>T	c.(115-117)acC>acT	p.T39T		NM_018659	NP_061129	Q9NRR1	CYTL1_HUMAN	Homo sapiens cytokine-like 1 (CYTL1), mRNA.	39					signal transduction	extracellular space|soluble fraction	receptor binding			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TGAAGTCGCGGGTGATCTCCT	0.692000														14			6		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123145750	123145750	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:123145750C>T	uc003ieh.3	+	20	2756	c.2711C>T	c.(2710-2712)cCt>cTt	p.P904L	KIAA1109_uc003iei.1_Missense_Mutation_p.P657L|KIAA1109_uc010ins.1_Missense_Mutation_p.P247L|KIAA1109_uc003iej.1_Missense_Mutation_p.P289L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	904					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.P904P(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GAAGGTCTTCCTTTGGGAAGC	0.493000														48			20		0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118753046	118753046	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:118753046G>A	uc002tlj.3	-	5	663	c.495C>T	c.(493-495)gcC>gcT	p.A165A	CCDC93_uc010fld.2_Silent_p.A221A	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	165										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTGTCTTGATGGCCTTTTCTT	0.433000														99			37		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78571017	78571017	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:78571017C>T	uc001syp.3	+	26	5394	c.5221C>T	c.(5221-5223)Ccg>Tcg	p.P1741S	NAV3_uc001syo.3_Missense_Mutation_p.P1741S|NAV3_uc010sub.2_Missense_Mutation_p.P1220S|NAV3_uc009zsf.3_Missense_Mutation_p.P572S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1741						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						TTCATCCCTTCCGGCATCCCC	0.473000										HNSCC(70;0.22)				129			48		0	0	1	0	0
CTSL2	1515	broad.mit.edu	37	9	99800315	99800315	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:99800315G>A	uc010msi.3	-	1	218	c.11C>T	c.(10-12)tCg>tTg	p.S4L	CTSL2_uc004awt.3_Missense_Mutation_p.S4L|CTSL2_uc004awu.3_5'UTR|CTSL2_uc010msj.2_5'UTR|CTSL2_uc010msk.3_5'UTR	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	4						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				CAGGACGAGCGAAAGATTCAT	0.413000														64			23		0	0	1	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37964342	37964343	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37964342_37964343CC>TT	uc003asz.4	+	2	1094_1095	c.691_692CC>TT	c.(691-693)ccc>TTc	p.P231F		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	231	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding	p.P231P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CGCTGCAAACCCCCCAGCCCCT	0.668000														33			12		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82836319	82836319	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:82836319C>T	uc003kii.3	+	7	7853	c.7497C>T	c.(7495-7497)tcC>tcT	p.S2499S	VCAN_uc003kij.3_Silent_p.S1512S|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.S1163S	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2499	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACAAAAGCTCCCCTGATCCAA	0.463000														76			12		0	0	1	0	0
GBP1P1	400759	broad.mit.edu	37	1	89889957	89889957	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:89889957G>A	uc009wcy.1	+	4		c.698G>A								Homo sapiens guanylate binding protein 1, interferon-inducible pseudogene 1 (GBP1P1), non-coding RNA.																		GATGGAGAGCGACAGGGTCCA	0.443000														354			99		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982370	61982370	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61982370C>T	uc002yes.2	-	4	571	c.393G>A	c.(391-393)ggG>ggA	p.G131G	CHRNA4_uc002yet.1_5'UTR|CHRNA4_uc010gke.1_Silent_p.G60G|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	131					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CCGCGAAGTCCCCGTCAGCAC	0.652000														35			6		0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832841	113832841	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113832841G>A	uc002tiu.3	+	4	434	c.359G>A	c.(358-360)tGg>tAg	p.W120*	IL1F10_uc002tiv.3_Nonsense_Mutation_p.W120*|IL1F10_uc002tiw.3_Nonsense_Mutation_p.W112*	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	120						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						TGGCCTGGCTGGTTCCTGTGT	0.592000														147			37		0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69622482	69622482	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:69622482A>T	uc004dyg.3	+	22	2699	c.2556A>T	c.(2554-2556)caA>caT	p.Q852H	KIF4A_uc010nkw.3_Missense_Mutation_p.Q852H	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	852	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GACCAAAACAACGCTGGGAGA	0.468000														17			14		0	0	1	0	0
SP3	6670	broad.mit.edu	37	2	174783444	174783444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:174783444G>A	uc002uig.3	-	4	2240	c.1709C>T	c.(1708-1710)aCc>aTc	p.T570I	SP3_uc002uie.3_Missense_Mutation_p.T502I|SP3_uc002uif.3_Missense_Mutation_p.T517I|SP3_uc010zel.2_Missense_Mutation_p.T567I	NM_003111	NP_003102	Q02447	SP3_HUMAN	Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.	570	Repressor domain.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TAGGTCATTGGTATTCAAGGT	0.428000														113			44		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91755509	91755509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:91755509G>A	uc010aty.3	-	24	4535	c.4381C>T	c.(4381-4383)Ccc>Tcc	p.P1461S		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1461					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCCAGTGCGGGGGTGTCGGGG	0.697000														54			29		0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161049422	161049422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161049422G>A	uc001fxo.2	-	1	696	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	133	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGCCGGCGGGGAAGGTGCTG	0.701000														18			11		0	0	1	0	0
GRTP1	79774	broad.mit.edu	37	13	114009781	114009781	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:114009781C>T	uc010tkc.2	-	2	294	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	GRTP1_uc001vtn.3_Missense_Mutation_p.R66Q|GRTP1_uc010tkb.2_5'UTR|GRTP1_uc010agv.1_Non-coding_Transcript	NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	Homo sapiens growth hormone regulated TBC protein 1 (GRTP1), mRNA.	66						intracellular	Rab GTPase activator activity	p.R66W(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GACCCCTTTCCGGACATAGCG	0.657000														25			3		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121957874	121957874	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:121957874G>A	uc003idq.1	-	3	1779	c.1252C>T	c.(1252-1254)Ctc>Ttc	p.L418F		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	418										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGTCGAACGAGGTATTTAGCT	0.423000														160			66		0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170573	90170573	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:90170573G>A	uc003hsm.1	-	1	1208	c.689C>T	c.(688-690)tCt>tTt	p.S230F	GPRIN3_uc021xqb.1_Missense_Mutation_p.S230F	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	230										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CCTCATTTCAGAGTCACAGAT	0.547000														52			22		0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801565	9801565	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9801565G>A	uc021uop.1	-	5	1260	c.614C>T	c.(613-615)tCc>tTc	p.S205F	ZNF812_uc010xkx.2_Missense_Mutation_p.S101F	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TAGGTGTGAGGAATGAGTGAT	0.368000														19			12		0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9799447	9799447	+	Silent	SNP	C	T	T	rs141116659		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:9799447C>T	uc003bst.3	-	10	1181	c.996G>A	c.(994-996)gcG>gcA	p.A332A	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_Silent_p.A106A|AX748417_uc003bsv.1_5'Flank	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	332					cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CCCCATGGCTCGCCGTCTGCC	0.652000														72			25		0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131600089	131600089	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131600089G>A	uc004bwh.3	-	5	627	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S	CCBL1_uc004bwg.3_Non-coding_Transcript|CCBL1_uc010myn.3_Missense_Mutation_p.P148S|CCBL1_uc004bwj.3_Missense_Mutation_p.P98S|CCBL1_uc004bwi.3_Non-coding_Transcript|CCBL1_uc011mbl.2_Missense_Mutation_p.P242S	NM_004059	NP_004050	Q16773	KAT1_HUMAN	Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA.	148					L-phenylalanine catabolic process|kynurenine metabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding	p.P148L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	TTCTGGATGGGACCCTGCAAG	0.582000														61			5		0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112648052	112648052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:112648052G>A	uc003dzj.1	-	3	738	c.505C>T	c.(505-507)Cac>Tac	p.H169Y	CD200R1_uc003dzk.1_Missense_Mutation_p.H146Y|CD200R1_uc011bhx.1_Missense_Mutation_p.H124Y|CD200R1_uc003dzl.1_Missense_Mutation_p.H169Y|CD200R1_uc003dzm.1_Missense_Mutation_p.H146Y	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.	146	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						ACTTGGAGGTGATATCCACGA	0.418000														107			20		0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124007847	124007847	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124007847C>T	uc001pzu.3	+	14	1960	c.1751C>T	c.(1750-1752)tCc>tTc	p.S584F	VWA5A_uc001pzt.3_Missense_Mutation_p.S584F	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	584										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GTCATAAGCTCCTTCACAGCT	0.502000														60			17		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202404	56202404	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:56202404G>A	uc002lhj.4	-	4	5229	c.5015C>T	c.(5014-5016)cCa>cTa	p.P1672L	ALPK2_uc002lhk.1_Missense_Mutation_p.P1003L	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1672							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTTTGACATGGATCCTGCAG	0.532000														111			21		0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801997	67801997	+	Silent	SNP	G	A	A	rs138108492	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:67801997G>A	uc001vik.3	-	1	1268	c.576C>T	c.(574-576)atC>atT	p.I192I	PCDH9_uc001vil.3_Silent_p.I192I|PCDH9_uc010thl.2_Silent_p.I192I|PCDH9_uc001vin.3_Silent_p.I192I	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	192	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GAGTTTCCACGATATCCAGTC	0.428000														166			53		0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171700565	171700565	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:171700565G>A	uc002ugi.3	+	6	1071	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K		NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	217					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.Y216*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTTTACATATGAAATTGCACC	0.358000														59			18		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110439377	110439377	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110439377C>T	uc003yne.3	+	24	3096	c.2992C>T	c.(2992-2994)Ctt>Ttt	p.L998F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	998					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			AAAGCAGAATCTTCTACAGGT	0.473000										HNSCC(38;0.096)				20			12		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43984301	43984301	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:43984301G>A	uc010yny.2	+	25	3922	c.3839G>A	c.(3838-3840)gGg>gAg	p.G1280E		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	1280	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACTCCAGCAGGGCATGTTACC	0.343000														89			36		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94224659	94224659	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:94224659G>A	uc003kkx.2	-	11	1858	c.1858C>T	c.(1858-1860)Cac>Tac	p.H620Y	MCTP1_uc003kkv.2_Missense_Mutation_p.H399Y|MCTP1_uc003kkw.2_Missense_Mutation_p.H353Y|MCTP1_uc003kkz.2_Missense_Mutation_p.H281Y|MCTP1_uc003kku.2_Missense_Mutation_p.H136Y	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	620	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.H620Q(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTCAGGTTGTGAAATATCCTC	0.433000														75			37		0	0	1	0	0
FADS6	283985	broad.mit.edu	37	17	72878706	72878706	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72878706G>A	uc002jmd.1	-	2	504	c.492C>T	c.(490-492)ttC>ttT	p.F164F	FADS6_uc010wrn.1_Missense_Mutation_p.S81F	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.	170					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					AAGGAGCAAGGAACATGTAGA	0.612000														16			6		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19753537	19753537	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19753537C>T	uc009zzj.3	-	1	275	c.170G>A	c.(169-171)gGa>gAa	p.G57E		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	57					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTTGCCAGCTCCAGTCTCACT	0.562000														108			29		0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4544371	4544371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4544371C>T	uc010dud.2	-	16	2171	c.1909G>A	c.(1909-1911)Gag>Aag	p.E637K	SEMA6B_uc010xih.1_Intron	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	637					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGATGGCCTCCTTGTCCTTG	0.776000														9			6		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128643385	128643385	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:128643385C>T	uc003qbk.3	-	2	661	c.294G>A	c.(292-294)atG>atA	p.M98I	PTPRK_uc010kfc.3_Missense_Mutation_p.M98I|PTPRK_uc003qbj.3_Missense_Mutation_p.M98I|PTPRK_uc011ebu.2_Missense_Mutation_p.M98I|PTPRK_uc003qbl.1_Intron|PTPRK_uc011ebv.1_Missense_Mutation_p.M98I|PTPRK_uc003qbm.4_Missense_Mutation_p.M27I	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	98	MAM.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CGTTCTCCTTCATTGTAGGCA	0.388000														73			75		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179432393	179432393	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179432393C>T	uc021vsy.1	-	274	70987	c.70762G>A	c.(70762-70764)Gat>Aat	p.D23588N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D17283N|TTN_uc021vta.1_Missense_Mutation_p.D17216N|TTN_uc021vtb.1_Missense_Mutation_p.D17091N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24515	Fibronectin type-III 71.						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)			TATCTTTGATCTTCAGTAAGA	0.398000														50			20		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26219491	26219491	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26219491G>A	uc003abz.1	+	12	2791	c.2541G>A	c.(2539-2541)atG>atA	p.M847I	MYO18B_uc003aca.1_Missense_Mutation_p.M728I|MYO18B_uc010guy.1_Missense_Mutation_p.M728I|MYO18B_uc010guz.1_Missense_Mutation_p.M728I|MYO18B_uc011aka.1_Missense_Mutation_p.M1I|MYO18B_uc011akb.1_Missense_Mutation_p.M360I	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	847	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						AGCAGTTCATGAGGTTTGAGT	0.577000														52			22		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24884069	24884069	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:24884069G>A	uc001isb.2	-	19	4250	c.3763C>T	c.(3763-3765)Cgt>Tgt	p.R1255C	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1254	Rho-GAP.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTTTTCAGACGATCTAGAGGA	0.303000														49			19		0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108313328	108313328	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:108313328C>T	uc001dvk.1	-	5	632	c.578G>A	c.(577-579)cGa>cAa	p.R193Q	VAV3_uc010ouw.1_Missense_Mutation_p.R193Q|VAV3_uc001dvl.1_Missense_Mutation_p.R17Q|VAV3_uc010oux.1_Missense_Mutation_p.R193Q	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	193	DH.				B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding	p.R193Q(4)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ACAACAACTTCGTATATCATT	0.299000														132			30		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	650775	650775	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:650775G>A	uc003gap.3	+	8	1273	c.1220G>A	c.(1219-1221)gGg>gAg	p.G407E	PDE6B_uc003gao.4_Missense_Mutation_p.G407E|PDE6B_uc011buy.2_Missense_Mutation_p.G128E|BC020343_uc003gaq.1_5'Flank	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	407	GAF 2.				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						AGGAAAGACGGGAAGCCCTTT	0.587000														51			26		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234549	21234550	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21234549_21234550CC>TT	uc002red.3	-	25	5318_5319	c.5190_5191GG>AA	c.(5188-5193)aaggtc>aaAAtc	p.V1731I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1731					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTTGACTGACCTTGAAGTTGA	0.446000														274			75		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42128555	42128555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:42128555C>T	uc003baz.1	+	10	1304	c.1279C>T	c.(1279-1281)Cct>Tct	p.P427S	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc003bay.3_Missense_Mutation_p.P427S|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	427							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGTTAGCAGCCCTGTGCTGGA	0.547000														37			27		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48250140	48250140	+	Missense_Mutation	SNP	G	A	A	rs61739612	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:48250140G>A	uc002eff.1	-	5	1186	c.836C>T	c.(835-837)cCc>cTc	p.P279L	ABCC11_uc002efg.1_Missense_Mutation_p.P279L|ABCC11_uc002efh.1_Missense_Mutation_p.P279L|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Missense_Mutation_p.P279L	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	279	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CAGTACTAGGGGTCCATAGCA	0.483000														143			39		0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89650480	89650480	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89650480C>T	uc002fnp.3	+	5	832	c.702C>T	c.(700-702)ctC>ctT	p.L234L	CPNE7_uc002fnq.3_Silent_p.L159L	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	234					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		ACGTGGAGCTCTCCTTCCGGG	0.687000														44			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049518	9049518	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9049518C>T	uc002mkp.3	-	4	32317	c.32113G>A	c.(32113-32115)Gaa>Aaa	p.E10705K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10707	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						GCATCTGATTCATGATGAGAA	0.473000														255			16		0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49411662	49411662	+	Silent	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:49411662G>C	uc002efr.3	+	1	214	c.171G>C	c.(169-171)gtG>gtC	p.V57V		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	57										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						CCAAAGTGGTGACAGTCCTTA	0.552000														12			7		0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765837	171765837	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:171765837G>A	uc003mbr.3	-	12	2443	c.2272C>T	c.(2272-2274)Cca>Tca	p.P758S		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	758	Pro-rich.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGCGGGGTGGGACCACAGGT	0.617000														50			14		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370417	126370417	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126370417G>A	uc003ifj.4	+	8	8246	c.8246G>A	c.(8245-8247)gGg>gAg	p.G2749E	FAT4_uc011cgp.2_Missense_Mutation_p.G1047E|FAT4_uc003ifi.1_Missense_Mutation_p.G227E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2749	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCAGACAAAGGGTCCCCGTCT	0.373000														99			44		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56138689	56138689	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:56138689G>A	uc002xyn.4	+	5	1030	c.867G>A	c.(865-867)ggG>ggA	p.G289G	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	289					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.G289W(2)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GCGCCTGCGGGAAGACCAACC	0.547000														84			47		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51413243	51413243	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:51413243C>T	uc011bds.2	+	50	5500	c.5477C>T	c.(5476-5478)cCc>cTc	p.P1826L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1826						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGCAGTGATCCCAATCTGTCT	0.532000														92			38		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117665278	117665278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117665278C>T	uc001twn.2	-	23	4387	c.3676G>A	c.(3676-3678)Gaa>Aaa	p.E1226K	NOS1_uc021ren.1_Missense_Mutation_p.E856K|NOS1_uc021reo.1_Missense_Mutation_p.E856K|NOS1_uc001twm.2_Missense_Mutation_p.E1192K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1192	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGGTGCACTTCATCAGGGTAC	0.622000														37			17		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164733803	164733803	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:164733803G>A	uc003fei.3	-	31	3888	c.3825C>T	c.(3823-3825)ttC>ttT	p.F1275F		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1275	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GAAGGTCCTGGAATGCTTCAC	0.373000										HNSCC(35;0.089)				146			61		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57602219	57602219	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57602219T>C	uc009vzx.1	-	3	623	c.303A>G	c.(301-303)acA>acG	p.T101T	DAB1_uc001cyt.1_Silent_p.T101T|DAB1_uc001cyq.1_Silent_p.T101T|DAB1_uc001cyr.1_Silent_p.T101T|DAB1_uc009vzw.1_Silent_p.T101T|DAB1_uc001cys.1_Silent_p.T101T	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	101	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TACTTACCCCTGTCTTCTCAT	0.408000														53			8		0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583561	10583561	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10583561G>A	uc011kwz.2	-	5	1043	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	SOX7_uc003wtf.3_Missense_Mutation_p.S285F	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	285	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.S285F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGTGGCCGGGGAGTAATAGGC	0.667000														29			15		0	0	1	0	0
CCM2	83605	broad.mit.edu	37	7	45108060	45108060	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:45108060C>T	uc003tms.3	+	4	625	c.554C>T	c.(553-555)tCc>tTc	p.S185F	CCM2_uc003tmn.3_Non-coding_Transcript|CCM2_uc003tmo.3_Missense_Mutation_p.S164F|CCM2_uc003tmp.3_Missense_Mutation_p.S106F|CCM2_uc003tmr.3_Intron|CCM2_uc011kcb.2_Missense_Mutation_p.S127F|CCM2_uc011kcc.2_Intron	NM_001029835	NP_001025006	Q9BSQ5	CCM2_HUMAN	Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 1, mRNA.	164	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCAGGGATCTCCCCCAGCCAG	0.612000														63			33		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44555716	44555716	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44555716C>T	uc003tlb.3	-	17	3737	c.3681G>A	c.(3679-3681)agG>agA	p.R1227R	NPC1L1_uc011kbw.2_Silent_p.R1154R|NPC1L1_uc003tlc.3_Silent_p.R1200R|NPC1L1_uc003tla.3_Intron	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1227					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)	CCTCTTTGGCCCTCTCCAGCC	0.627000														11			6		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123019002	123019002	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:123019002G>A	uc003egh.2	-	14	2865	c.2865C>T	c.(2863-2865)ttC>ttT	p.F955F	ADCY5_uc021xdd.1_Silent_p.F605F|ADCY5_uc003egg.2_Silent_p.F588F|ADCY5_uc003egi.1_Silent_p.F514F	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	955					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGGCGTTGTCGAAGAGCGTGA	0.617000														52			14		0	0	1	0	0
ALDH1A3	220	broad.mit.edu	37	15	101436147	101436147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:101436147C>T	uc002bwn.4	+	6	780	c.676C>T	c.(676-678)Cct>Tct	p.P226S	ALDH1A3_uc010bpb.3_Missense_Mutation_p.P119S|BC073817_uc002bwo.1_Non-coding_Transcript	NM_000693	NP_000684	P47895	AL1A3_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A3 (ALDH1A3), mRNA.	226					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	GGCCGGGTTCCCTCCAGGAGT	0.557000														32			10		0	0	1	0	0
ARRDC4	91947	broad.mit.edu	37	15	98514412	98514412	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:98514412C>T	uc010bom.3	+	7	1411	c.1252C>T	c.(1252-1254)Ctc>Ttc	p.L418F	ARRDC4_uc002bui.4_Missense_Mutation_p.L331F	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA.	418					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TTCCTTCATTCTCTGAACGTA	0.398000														177			12		0	0	1	0	0
SLC35B3	51000	broad.mit.edu	37	6	8422706	8422706	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:8422706G>A	uc011did.2	-	4	948	c.571C>T	c.(571-573)Caa>Taa	p.Q191*	SLC35B3_uc003myc.3_Intron|SLC35B3_uc003myd.3_Non-coding_Transcript|SLC35B3_uc010joe.3_Nonsense_Mutation_p.Q191*|SLC35B3_uc003myb.3_Nonsense_Mutation_p.Q191*	NM_001142540	NP_057032	Q9H1N7	S35B3_HUMAN	Homo sapiens solute carrier family 35, member B3 (SLC35B3), transcript variant 2, mRNA.	191					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					ACTATACCTTGAATAAAAACT	0.333000														54			12		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69885391	69885391	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69885391C>T	uc011cao.1	-	2	703	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	UGT2B10_uc011can.1_Intron			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	237					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CCTAAAACTTCACTGTAAAAG	0.338000														38			10		0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118196347	118196347	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:118196347C>T	uc001lcl.4	+	1	275	c.174C>T	c.(172-174)ctC>ctT	p.L58L		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	58					lipid catabolic process	extracellular region	triglyceride lipase activity	p.L57L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GTTTCCTGCTCTACACTATAC	0.408000														159			17		0	0	1	0	0
PLD6	201164	broad.mit.edu	37	17	17109301	17109301	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:17109301G>A	uc002gqz.3	-	0	346	c.300C>T	c.(298-300)gcC>gcT	p.A100A	PLD6_uc010cpn.3_Intron	NM_178836	NP_849158	Q8N2A8	PLD6_HUMAN	Homo sapiens phospholipase D family, member 6 (PLD6), mRNA.	100					DNA methylation involved in gamete generation|P granule organization|lipid catabolic process|meiosis|mitochondrial fusion|piRNA metabolic process|spermatid development	integral to membrane|mitochondrial outer membrane	cardiolipin hydrolase activity|protein homodimerization activity			endometrium(1)|lung(1)	2						GGCTGGAGAAGGCGAACAGGC	0.726000														0			2		0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	6925673	6925673	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:6925673C>T	uc011bwg.2	+	1	636	c.557C>T	c.(556-558)tCc>tTc	p.S186F	TBC1D14_uc003gjs.4_Missense_Mutation_p.S186F	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	186						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						ACGAGCAGCTCCAGTGCCATT	0.552000														28			11		0	0	1	0	0
RASL10B	91608	broad.mit.edu	37	17	34068188	34068188	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:34068188C>T	uc002hju.3	+	3	842	c.476C>T	c.(475-477)tCg>tTg	p.S159L		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	Homo sapiens RAS-like, family 10, member B (RASL10B), mRNA.	159	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.C158C(1)		breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTGGAATGCTCGGCCAAGTAC	0.647000														26			17		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6051600	6051600	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:6051600C>T	uc010idb.1	-	15	2395	c.1909_splice	c.e15-1	p.D637_splice	JAKMIP1_uc010idc.1_Splice_Site_p.D452_splice|JAKMIP1_uc010idd.1_Intron	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	410					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATTCACATCCTGGAAGAGAT	0.443000														21			9		0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9959119	9959119	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:9959119C>T	uc003bua.3	+	0	338	c.120C>T	c.(118-120)ccC>ccT	p.P40P	CIDEC_uc003bto.3_Intron|IL17RC_uc010hcr.3_Intron|IL17RC_uc011ato.2_Intron|IL17RC_uc010hcs.3_Intron|IL17RC_uc003btz.3_Intron|IL17RC_uc011atp.2_Intron|IL17RC_uc003bud.3_Intron|IL17RC_uc010hct.3_Intron|IL17RC_uc010hcu.3_Intron|IL17RC_uc003bub.3_Intron|IL17RC_uc010hcv.3_Intron|IL17RC_uc003buc.3_Intron|IL17RC_uc011atq.2_Intron	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	40						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTCTGGAACCCTGGGGAGACG	0.607000														55			17		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803521	185803521	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:185803521C>T	uc002uph.3	+	3	3992	c.3398C>T	c.(3397-3399)tCc>tTc	p.S1133F		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	1133						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGTTTCTTTCCCAAATCCCA	0.542000														79			37		0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139264207	139264207	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139264207C>T	uc022bpp.1	-	6	1238	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	CARD9_uc004chg.3_Missense_Mutation_p.D358N|CARD9_uc022bpo.1_Missense_Mutation_p.D358N|CARD9_uc011mdx.1_Missense_Mutation_p.D254N	NM_052814	NP_434701	Q9H257	CARD9_HUMAN	Homo sapiens caspase recruitment domain family, member 9 (CARD9), transcript variant 2, mRNA.	358					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	p.R357Q(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CCCACCTGGTCCCGCTCAATG	0.612000														5			4		0	0	1	0	0
RXRG	6258	broad.mit.edu	37	1	165386283	165386283	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:165386283C>T	uc001gda.3	-	3	1079	c.617G>A	c.(616-618)aGg>aAg	p.R206K	RXRG_uc021pea.1_Missense_Mutation_p.R83K	NM_006917	NP_008848	P48443	RXRG_HUMAN	Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA.	206	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CTCACCTTCCCTCTTCATGCC	0.512000														59			14		0	0	1	0	0
TRIM4	89122	broad.mit.edu	37	7	99506319	99506319	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99506319C>T	uc003usd.3	-	3	883	c.684G>A	c.(682-684)acG>acA	p.T228T	TRIM4_uc003use.3_Silent_p.T202T|TRIM4_uc011kjc.2_Silent_p.T58T|TRIM4_uc003usf.3_Silent_p.T202T	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	228					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GCTTCTTCTTCGTCTCTTCTT	0.448000														115			37		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325003	150325004	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150325003_150325004CC>TT	uc022apv.1	-	2	1372_1373	c.892_893GG>AA	c.(892-894)gga>AAa	p.G298K	GIMAP6_uc003whn.3_Missense_Mutation_p.G228K|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	228							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTAATAATCTCCTTCGTTTTCC	0.515000														175			71		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15073099	15073099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15073099C>T	uc002naa.1	-	4	657	c.650G>A	c.(649-651)gGg>gAg	p.G217E	SLC1A6_uc010dzu.1_Missense_Mutation_p.G217E|SLC1A6_uc010xod.1_Missense_Mutation_p.G153E|SLC1A6_uc002nab.3_Missense_Mutation_p.G217E|SLC1A6_uc002nac.3_Missense_Mutation_p.G217E	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	217					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CGGCTCAGACCCGTTCTCTGT	0.552000														142			15		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106653437	106653437	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106653437C>T	uc021ser.1	-	1433		c.28782G>A								Parts of antibodies, mostly variable regions.																		ACAGGAAGTTCCTGGAATTGT	0.522000														177			37		0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56334725	56334725	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56334725C>T	uc001sij.3	+	12	1326	c.1062C>T	c.(1060-1062)acC>acT	p.T354T	DGKA_uc001sih.1_Silent_p.T242T|DGKA_uc001sii.1_Silent_p.T212T|DGKA_uc009zod.1_Silent_p.T273T|DGKA_uc001sik.3_Silent_p.T354T|DGKA_uc001sil.3_Silent_p.T354T|DGKA_uc001sim.3_Silent_p.T354T|DGKA_uc001sin.3_Silent_p.T354T|DGKA_uc009zof.3_5'UTR|DGKA_uc001sio.3_Silent_p.T96T	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	354					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)	GCCAGAAGACCATGGATGATT	0.493000											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			10		0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120502576	120502576	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:120502576C>T	uc001txl.1	+	3	827	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	CCDC64_uc001txk.2_Missense_Mutation_p.R268C|CCDC64_uc009zwv.1_Non-coding_Transcript|CCDC64_uc010sze.1_Missense_Mutation_p.R12C	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA.	268					Golgi to secretory granule transport|neuron projection development	centrosome	Rab GTPase binding|dynactin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGGAGCATCGTCTCAGCGC	0.567000														138			19		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87045156	87045156	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:87045156C>T	uc009wcs.3	+	12	2286	c.2242C>T	c.(2242-2244)Ccc>Tcc	p.P748S	CLCA4_uc009wct.3_Missense_Mutation_p.P511S|CLCA4_uc009wcu.3_Missense_Mutation_p.P568S	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	748						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			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)		CCCAAGCCTTCCCTTGCCTGA	0.468000														134			67		0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139113660	139113660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139113660G>A	uc010nbi.2	-	5	841	c.803C>T	c.(802-804)tCg>tTg	p.S268L		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.	268					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CAATCCATGCGACCCATTTGG	0.557000														58			27		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940519	113940519	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113940519G>A	uc002tjc.3	+	1	669	c.486G>A	c.(484-486)caG>caA	p.Q162Q	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.Q161Q|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	162					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCATCCTGCAGGCCCAGATGT	0.617000														84			6		0	0	1	0	0
IFNA21	3452	broad.mit.edu	37	9	21166096	21166096	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21166096C>T	uc003zom.2	-	0	564	c.516G>A	c.(514-516)atG>atA	p.M172I		NM_002175	NP_002166	P01568	IFN21_HUMAN	Homo sapiens interferon, alpha 21 (IFNA21), mRNA.	172					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAAGGATCTCATGATTTCTG	0.383000														314			33		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952418	119952418	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:119952418G>A	uc010inb.3	+	3	2684	c.2488G>A	c.(2488-2490)Gga>Aga	p.G830R	SYNPO2_uc010ina.3_Missense_Mutation_p.G830R|SYNPO2_uc003icm.4_Missense_Mutation_p.G830R|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.G758R|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	830						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCCTTCAAAGGACCACAAGC	0.532000														51			21		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832666	24832666	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:24832666G>A	uc001iru.4	+	18	4870	c.4467G>A	c.(4465-4467)ggG>ggA	p.G1489G	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Silent_p.G1172G|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Silent_p.G325G	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1489					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						aggaaaatggggaTTCTGTAG	0.433000														32			12		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43247047	43247047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:43247047G>A	uc002lbe.3	+	12	2521	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	SLC14A2_uc010dnj.3_Missense_Mutation_p.E569K	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	569						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGAGTGTGGAGAGGGACTTAA	0.507000														37			5		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065427	35065427	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35065427C>T	uc003jjm.3	-	9	2192	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.E444K|PRLR_uc021xxl.1_3'UTR	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	545					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTGGCATACTCCTTATTGTTC	0.478000														75			19		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047412	73047412	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73047412G>A	uc004ebn.2	+	0		c.35373G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		AGAAACAGCAGAAAGGAGGCC	0.438000														6			4		0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31541393	31541393	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31541393C>T	uc011dnu.1	+	3	754	c.541C>T	c.(541-543)Cta>Tta	p.L181L	LTA_uc003nue.1_Silent_p.L181L|LTA_uc003nuf.3_Intron|LTA_uc003nuh.3_Intron|LTA_uc003nug.3_Missense_Mutation_p.A90V|LTA_uc010jsr.3_Non-coding_Transcript|TNF_uc003nui.3_5'Flank|TNF_uc003nuj.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	181					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	GGGAGACCAGCTATCCACCCA	0.557000														222			64		0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19136660	19136660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19136660G>A	uc002nkz.1	-	2	559	c.539C>T	c.(538-540)cCc>cTc	p.P180L	SUGP2_uc002nkx.2_Missense_Mutation_p.P166L|SUGP2_uc002nla.1_Missense_Mutation_p.P166L|SUGP2_uc002nlb.2_Missense_Mutation_p.P166L|SUGP2_uc010xqk.1_Intron	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	166					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AACTGCAGAGGGACCAAAACT	0.502000														70			37		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81969801	81969801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:81969801C>T	uc002fgt.3	+	26	3048	c.2870C>T	c.(2869-2871)tCc>tTc	p.S957F		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	957	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GAAATCCGCTCCTTTGTGGAG	0.483000														56			6		0	0	1	0	0
C9orf152	401546	broad.mit.edu	37	9	112963360	112963360	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:112963360G>A	uc011lwk.2	-	1	1142	c.588C>T	c.(586-588)ttC>ttT	p.F196F	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	196										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ATTGAGTGCTGAATTTTAAGC	0.502000														85			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179501491	179501491	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179501491C>T	uc021vsy.1	-	173	33484	c.33259G>A	c.(33259-33261)Gaa>Aaa	p.E11087K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E4782K|TTN_uc021vta.1_Missense_Mutation_p.E4715K|TTN_uc021vtb.1_Missense_Mutation_p.E4590K|TTN_uc010fre.1_Missense_Mutation_p.E948K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12014	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E4590K(1)|p.E4782K(1)|p.E11087K(1)		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)			TTTCTCCTTTCGGCTTCTATT	0.433000														54			17		0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15858288	15858288	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:15858288G>A	uc002yju.1	-	7	1149	c.1067C>T	c.(1066-1068)tCt>tTt	p.S356F	SAMSN1_uc010gky.1_Missense_Mutation_p.S188F|SAMSN1_uc002yjv.1_Missense_Mutation_p.S424F	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	356					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CAGATTTTCAGACTCCAGATC	0.393000														140			30		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699041	17699041	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:17699041C>T	uc002grm.3	+	2	3248	c.2779C>T	c.(2779-2781)Ctg>Ttg	p.L927L	RAI1_uc002grn.1_Silent_p.L927L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	927						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GTCCGTCATCCTGCTGGGCCC	0.632000														29			13		0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56511246	56511246	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56511246C>T	uc010rjo.2	-	0	42	c.42G>A	c.(40-42)gtG>gtA	p.V14V		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CTTCCATGTCCACGGAGGTGA	0.408000														94			32		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220166353	220166353	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220166353C>T	uc002vkz.3	-	6	1324	c.1083G>A	c.(1081-1083)ctG>ctA	p.L361L	PTPRN_uc010zlc.2_Silent_p.L271L|PTPRN_uc002vla.3_Silent_p.L361L	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	361					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCAGCAGGGTCAGGAGTGTGG	0.637000														78			36		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141459834	141459834	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141459834G>A	uc002tvj.1	-	38	7150	c.6178C>T	c.(6178-6180)Cgc>Tgc	p.R2060C		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2060					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGTCTGTGCGAGCATCACAC	0.373000										TSP Lung(27;0.18)				166			13		0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3673354	3673354	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3673354G>A	uc001akv.2	+	3	692	c.611G>A	c.(610-612)aGa>aAa	p.R204K		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	204								p.R204I(2)		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)		CGGAAGAGGAGAAAATCCCAG	0.547000														73			21		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105990440	105990440	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105990440G>A	uc001kxw.3	-	1	343	c.227C>T	c.(226-228)cCc>cTc	p.P76L	WDR96_uc001kxx.4_Missense_Mutation_p.P76L|WDR96_uc001kxy.1_Missense_Mutation_p.P76L|WDR96_uc001kxz.3_Missense_Mutation_p.P76L	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	76										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AACTTCACAGGGGATGTTAGT	0.393000														100			32		0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37289169	37289169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:37289169G>A	uc002rpp.1	-	10	1705	c.1609C>T	c.(1609-1611)Ctt>Ttt	p.L537F		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	537							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GTTCGTAAAAGATCTTCAGCA	0.343000														59			24		0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43258539	43258539	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43258539G>A	uc002ouo.2	-	4	1287	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.R397C|PSG8_uc010ein.3_Missense_Mutation_p.R275C|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	397	Ig-like C2-type 3.					extracellular region		p.R397C(4)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GCTGAGTTACGAACAGAGCAA	0.448000														655			39		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10358358	10358358	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10358358C>T	uc002gmn.3	-	20	2446	c.2335G>A	c.(2335-2337)Gaa>Aaa	p.E779K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	779	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E778K(1)		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						TCTCGCATTTCCTCTAGAGTT	0.418000														41			28		0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43918417	43918417	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:43918417G>A	uc003tiw.3	-	5	702	c.645C>T	c.(643-645)ctC>ctT	p.L215L	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Silent_p.L172L|URGCP_uc003tiv.3_Silent_p.L140L|URGCP_uc003tix.3_Silent_p.L206L|URGCP_uc003tiy.3_Silent_p.L172L|URGCP_uc003tiz.3_Silent_p.L172L|URGCP_uc011kbj.2_Silent_p.L172L	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	215					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGGCAACACGAGTGGGAGTG	0.562000														29			11		0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171406482	171406482	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:171406482G>A	uc003fhs.3	-	13	1870	c.1523C>T	c.(1522-1524)tCt>tTt	p.S508F	PLD1_uc003fht.3_Missense_Mutation_p.S508F	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	508	Catalytic.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GGAACCCAGAGACGGTCCTGA	0.453000														82			9		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138000129	138000129	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:138000129G>A	uc002tva.1	+	8	2160	c.2160G>A	c.(2158-2160)agG>agA	p.R720R	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.R610R	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)		CCTGCCCAAGGATGTGCCAAG	0.478000														42			21		0	0	1	0	0
ALX3	257	broad.mit.edu	37	1	110612973	110612973	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110612973C>T	uc001dzb.3	-	0	350	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_006492	NP_006483	O95076	ALX3_HUMAN	Homo sapiens ALX homeobox 3 (ALX3), mRNA.	88						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCGGGGCCCTCGTAGAAGTGG	0.731000														19			4		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70461399	70461399	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:70461399C>T	uc002lkw.3	-	5	876	c.592G>A	c.(592-594)Gag>Aag	p.E198K	NETO1_uc002lky.2_Missense_Mutation_p.E198K	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	198	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.S197S(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCAACAGCCTCGCTAGCAGTA	0.458000														143			18		0	0	1	0	0
ASGR2	433	broad.mit.edu	37	17	7012127	7012127	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7012127G>A	uc002gep.3	-	2	472	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	ASGR2_uc002gen.1_Silent_p.L50L|ASGR2_uc002geo.2_Silent_p.L69L|ASGR2_uc002geq.3_Silent_p.L50L|ASGR2_uc002ger.3_Silent_p.L69L|ASGR2_uc010clw.2_Silent_p.L50L|ASGR2_uc010vtl.1_Non-coding_Transcript	NM_001181	NP_550434	P07307	ASGR2_HUMAN	Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA.	69					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	ACCAGCAGCAGGATGTTGAAG	0.632000														19			21		0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207135708	207135708	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207135708C>T	uc001hfa.4	-	4	1002	c.502G>A	c.(502-504)Gac>Aac	p.D168N	FCAMR_uc001hfb.3_Missense_Mutation_p.D168N|FCAMR_uc009xca.2_Missense_Mutation_p.D168N|FCAMR_uc021pig.1_Missense_Mutation_p.D83N	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	123	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						GCCACACGGTCACGATAGCGA	0.572000														51			24		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90016011	90016011	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:90016011G>A	uc003kju.3	+	43	9690	c.9594G>A	c.(9592-9594)ggG>ggA	p.G3198G	GPR98_uc003kjt.3_Silent_p.G904G|GPR98_uc003kjv.3_Silent_p.G798G	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3198					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCCCTTTGGGGCTATTCAGTA	0.368000														19			17		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688288	60688288	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:60688288C>T	uc002sae.1	-	3	1987	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	BCL11A_uc002sab.3_Missense_Mutation_p.E587K|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.E256K|BCL11A_uc010ypj.2_Missense_Mutation_p.E553K|BCL11A_uc002sad.1_Missense_Mutation_p.E435K|BCL11A_uc002saf.1_Missense_Mutation_p.E553K	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	587					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ACCGAGTCTTCGTCGCAAGTG	0.672000			T	IGH@	B-CLL									26			15		0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380062	56380062	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56380062C>A	uc001nja.1	-	0	917	c.917G>T	c.(916-918)aGg>aTg	p.R306M	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	306					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						GGATTTTCCCCTAATCATTTG	0.373000														195			29		2.14196e-07	2.14733e-07	1	1	0
VIPR1	7433	broad.mit.edu	37	3	42567411	42567411	+	Missense_Mutation	SNP	G	A	A	rs35925925		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42567411G>A	uc003clf.2	+	3	449	c.325G>A	c.(325-327)Ggc>Agc	p.G109S	VIPR1_uc021wwl.1_Missense_Mutation_p.G68S|VIPR1_uc011azn.2_Missense_Mutation_p.G82S|VIPR1_uc011azl.1_Missense_Mutation_p.G62S|VIPR1_uc011azm.1_5'UTR	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	109					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CACCGACGAAGGCTGGACGCA	0.642000														11			4		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105451060	105451060	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:105451060G>A	uc022cca.1	+	0	1635	c.1635G>A	c.(1633-1635)atG>atA	p.M545I	MUM1L1_uc004emg.2_Missense_Mutation_p.M545I|MUM1L1_uc004emf.2_Missense_Mutation_p.M545I	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	545										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGACCGGATGAAGGCTGCTC	0.468000														9			9		0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	313576	313576	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:313576G>A	uc002lok.1	-	7	732	c.723C>T	c.(721-723)ttC>ttT	p.F241F		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	241	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)		CCCTGTACAGGAACTCCTCCA	0.632000														124			48		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534203	92534203	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92534203C>T	uc001pdj.4	+	8	8041	c.8024C>T	c.(8023-8025)tCg>tTg	p.S2675L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2675	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAGTGCTTTCGTTCTTTGTC	0.483000										TCGA Ovarian(4;0.039)				32			15		0	0	1	0	0
INTS4L1	285905	broad.mit.edu	37	7	64639846	64639846	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:64639846C>T	uc003ttw.3	+	4		c.729C>T								Homo sapiens integrator complex subunit 4-like 1 (INTS4L1), non-coding RNA.																		CCGAGAAGATCAGCTTGACAC	0.453000														64			18		0	0	1	0	0
IL5	3567	broad.mit.edu	37	5	131877530	131877530	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:131877530C>T	uc003kxe.1	-	3	422	c.378G>A	c.(376-378)atG>atA	p.M126I		NM_000879	NP_000870	P05113	IL5_HUMAN	Homo sapiens interleukin 5 (colony-stimulating factor, eosinophil) (IL5), mRNA.	126					immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	ACTCGGTGTTCATTACACCAA	0.393000														76			20		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70871758	70871758	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:70871758G>A	uc002ezr.3	-	76	13225	c.13074C>T	c.(13072-13074)ctC>ctT	p.L4358L	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4359										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)				AGTTCACCTCGAGGTGAGTGG	0.453000														46			24		0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151123529	151123530	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151123529_151123530GG>AA	uc004ffi.3	-	8	1218_1219	c.1164_1165CC>TT	c.(1162-1167)gcccgt>gcTTgt	p.R389C	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	389					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCACGGGTACGGGCATGGGCAC	0.545000														6			3		0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106066665	106066665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106066665G>A	uc001yrw.1	-	4	1079	c.1067C>T	c.(1066-1068)aCc>aTc	p.T356I	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.T303I|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		GCAGGCGAGGGTGCGCTTGTC	0.697000														15			9		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21721262	21721262	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:21721262C>T	uc003svc.3	+	30	5473	c.5442C>T	c.(5440-5442)gcC>gcT	p.A1814A		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1814	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATGTCCATGCCAGAGACGTGG	0.388000									Kartagener syndrome					78			28		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585536	7585536	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7585536G>A	uc003mxp.1	+	23	8320	c.8041G>A	c.(8041-8043)Gac>Aac	p.D2681N	DSP_uc003mxq.1_Missense_Mutation_p.D2082N|DSP_uc021yle.1_Missense_Mutation_p.D2238N	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2681	Globular 2.				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)		GGGTGTGATTGACCAAGACAT	0.567000														154			59		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102508054	102508054	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:102508054C>T	uc001yks.2	+	64	12249	c.12085C>T	c.(12085-12087)Cac>Tac	p.H4029Y		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	4029	AAA 6 (By similarity).		H -> Q (in dbSNP:rs10129889).		G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGACCTGACCCACATTGTGGG	0.597000														89			10		0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867615	6867615	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6867615G>A	uc001met.1	+	0	702	c.702G>A	c.(700-702)ggG>ggA	p.G234G		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGCTAAAGGGAAGCATAAAG	0.453000														188			69		0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7807996	7807996	+	Missense_Mutation	SNP	C	T	T	rs11465393	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7807996C>T	uc002mht.2	-	6	1211	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T	CD209_uc010xju.1_Missense_Mutation_p.A221T|CD209_uc010dvp.2_3'UTR|CD209_uc002mhr.2_Missense_Mutation_p.A358T|CD209_uc002mhs.2_Missense_Mutation_p.A312T|CD209_uc002mhu.2_Missense_Mutation_p.A290T|CD209_uc010dvq.2_Missense_Mutation_p.A376T|CD209_uc002mhq.2_Missense_Mutation_p.A382T|CD209_uc002mhv.2_Missense_Mutation_p.A358T|CD209_uc002mhx.2_Missense_Mutation_p.A338T|CD209_uc002mhw.2_Missense_Mutation_p.A246T|CD209_uc010dvr.2_Missense_Mutation_p.A146T	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	382			A -> S (in dbSNP:rs11465393).		cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.A382T(3)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GAGCAGGAGGCTGCGGACTTT	0.522000														165			74		0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62655996	62655996	+	Missense_Mutation	SNP	C	T	T	rs138529750		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62655996C>T	uc001nwd.3	+	11	1982	c.1724C>T	c.(1723-1725)tCg>tTg	p.S575L	SLC3A2_uc001nwc.3_Missense_Mutation_p.S576L|SLC3A2_uc001nwf.3_Missense_Mutation_p.S513L|SLC3A2_uc001nwg.3_Missense_Mutation_p.S474L	NM_002394	NP_001013269	P08195	4F2_HUMAN	Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.	575					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.F575F(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GTGGGCCTCTCGGCTGGACTG	0.642000														153			67		0	0	1	0	0
CSH2	1443	broad.mit.edu	37	17	61949961	61949961	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61949961C>T	uc002jch.3	-	3	547	c.432G>A	c.(430-432)gaG>gaA	p.E144E	CSH2_uc002jci.3_Silent_p.E144E|CSH2_uc002jcg.3_Intron	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	144					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						GGATGCCTTCCTCTAGGTCCT	0.602000														101			28		0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27840247	27840247	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:27840247G>A	uc022bud.1	+	0	824	c.824G>A	c.(823-825)tGg>tAg	p.W275*	MAGEB10_uc004dbw.3_Nonsense_Mutation_p.W275*	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	275	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CAATTCCTATGGGGCCCAAGA	0.468000														14			22		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30495438	30495438	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30495438G>A	uc002dyi.4	+	8	1036	c.860G>A	c.(859-861)gGa>gAa	p.G287E	ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Missense_Mutation_p.G204E|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	287	VWFA.				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TCACAGATTGGAAAGCATTTT	0.483000														170			20		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093412	30093412	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:30093412C>T	uc010dmc.3	+	0		c.1787C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		AGCTCCCTTGCTGAACCCTGA	0.527000														120			12		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113388681	113388681	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113388681C>T	uc001tug.3	+	6	1645	c.1558C>T	c.(1558-1560)Cct>Tct	p.P520S		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	520	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCTTCAGTTTCCTGAGCAGAA	0.617000														52			18		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122833219	122833219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:122833219C>T	uc003ieg.2	-	4	1445	c.1371G>A	c.(1369-1371)atG>atA	p.M457I	TRPC3_uc010inr.2_Missense_Mutation_p.M329I|TRPC3_uc003ief.2_Missense_Mutation_p.M384I|TRPC3_uc011cgl.1_Missense_Mutation_p.M121I	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	372					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.W457L(1)|p.W457R(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTACAAACTTCATAAAAGGGC	0.443000														43			21		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166170230	166170230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166170230C>T	uc002udc.3	+	8	1425	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	SCN2A_uc002udd.3_Missense_Mutation_p.R379C|SCN2A_uc002ude.3_Missense_Mutation_p.R379C	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	379					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R379C(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTCCTTATTTCGTCTCATGAC	0.413000														99			27		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20565115	20565115	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20565115C>T	uc002dhj.4	-	5	934	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	ACSM2B_uc002dhk.4_Missense_Mutation_p.A242T|ACSM2B_uc010bwf.1_Missense_Mutation_p.A242T	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	242					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCCATCTTGGCCTTGAGGCCC	0.517000														92			45		0	0	1	0	0
CDX1	1044	broad.mit.edu	37	5	149546471	149546471	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149546471C>T	uc003lrq.3	+	0	128	c.32C>T	c.(31-33)tCg>tTg	p.S11L		NM_001804	NP_001795	P47902	CDX1_HUMAN	Homo sapiens caudal type homeobox 1 (CDX1), mRNA.	11						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACAAGGATTCGCCCGTGTAC	0.776000														11			4		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150840204	150840204	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:150840204C>T	uc004fev.4	+	12	1722	c.1390C>T	c.(1390-1392)Ctc>Ttc	p.L464F		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	464						nucleus	signal transducer activity	p.L464V(6)|p.L464F(3)|p.S463F(1)		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)					ATCCAACTCTCTCAAAAACAC	0.463000														27			28		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71008381	71008381	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:71008381C>T	uc001jpf.4	+	9	1600	c.1467C>T	c.(1465-1467)gcC>gcT	p.A489A	HKDC1_uc010qje.2_Silent_p.A352A	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	489					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ACGTGCAGGCCAAGATGCGGG	0.667000														33			10		0	0	1	0	0
SLC16A11	162515	broad.mit.edu	37	17	6945458	6945458	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:6945458G>A	uc002gei.1	-	2	1381	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V		NM_153357	NP_699188	Q8NCK7	MOT11_HUMAN	Homo sapiens solute carrier family 16, member 11 (monocarboxylic acid transporter 11) (SLC16A11), mRNA.	348						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						CAGCCCATAGGCCACAGCCGC	0.716000														5			7		0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95290159	95290159	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:95290159C>T	uc001dqv.4	+	2	353	c.246C>T	c.(244-246)gcC>gcT	p.A82A	SLC44A3_uc001dqx.4_Silent_p.A82A|SLC44A3_uc010otq.2_Silent_p.A46A|SLC44A3_uc010otr.2_Silent_p.A46A|SLC44A3_uc001dqw.4_Silent_p.A34A|SLC44A3_uc010ots.2_Silent_p.A34A|SLC44A3_uc009wds.3_5'UTR|SLC44A3_uc010ott.2_Silent_p.A34A|SLC44A3_uc010otu.1_5'Flank	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	82						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TGGAAGGGGCCCCTCTTTCAG	0.488000														124			19		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14534953	14534953	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:14534953C>T	uc010dln.3	-	3	1318	c.864G>A	c.(862-864)gtG>gtA	p.V288V	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	288										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTAAAAATTTCACCACTTGCT	0.299000														127			12		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884549	228884549	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228884549G>A	uc002vpq.2	-	6	1068	c.1021C>T	c.(1021-1023)Cca>Tca	p.P341S	SPHKAP_uc002vpp.2_Missense_Mutation_p.P341S|SPHKAP_uc010zlx.1_Missense_Mutation_p.P341S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	341						cytoplasm	protein binding	p.P341T(3)|p.P341K(3)|p.P341Q(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCATCTTTTGGAATATACAGT	0.423000														130			58		0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290506	132290506	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:132290506C>T	uc002tta.3	+	5	998	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S	CCDC74A_uc002ttb.3_Missense_Mutation_p.P250S|CCDC74A_uc021vpq.1_Silent_p.F251F|CCDC74A_uc021vpr.1_Missense_Mutation_p.P313S	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	316										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGCTAGCTTTCCCAGGTGAGT	0.647000														65			26		0	0	1	0	0
RAB17	64284	broad.mit.edu	37	2	238494746	238494746	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:238494746G>A	uc002vwz.2	-	1	715	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C	RAB17_uc002vxb.2_Non-coding_Transcript	NM_022449	NP_071894	Q9H0T7	RAB17_HUMAN	Homo sapiens RAB17, member RAS oncogene family (RAB17), transcript variant 1, mRNA.	18					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		TTGAACACACGGGGCTGGCTG	0.592000														61			33		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332873	70332873	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70332873G>A	uc001oqc.3	-	20	3439	c.3327C>T	c.(3325-3327)tcC>tcT	p.S1109S	SHANK2_uc010rqn.2_Silent_p.S585S|SHANK2_uc001opz.3_Silent_p.S580S|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	796					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTTTGGACGTGGAATTCAGCG	0.697000														82			10		0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38967280	38967280	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38967280G>A	uc003jlo.2	-	13	1223	c.1201C>T	c.(1201-1203)Cgt>Tgt	p.R401C	RICTOR_uc003jlp.2_Missense_Mutation_p.R401C|RICTOR_uc010ivf.2_Missense_Mutation_p.R116C	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	401					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AGTCCATTACGAATAAATGCA	0.343000														202			85		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186671899	186671899	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:186671899G>A	uc002upl.3	+	16	18133	c.18133G>A	c.(18133-18135)Gaa>Aaa	p.E6045K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGTGATAAATGAAATTTTCCA	0.318000														123			46		0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28618127	28618127	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:28618127G>A	uc002dqn.3	-	8	1414	c.822C>T	c.(820-822)agC>agT	p.S274S	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Silent_p.S183S|SULT1A1_uc002dqi.3_Silent_p.S183S|SULT1A1_uc002dqk.3_Silent_p.S183S|SULT1A1_uc002dql.3_Silent_p.S183S|SULT1A1_uc002dqm.3_Silent_p.S105S|SULT1A1_uc002dqp.3_Silent_p.S183S	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	183					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GGTGGGTGCGGCTCAGCTCCC	0.597000														155			14		0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116757239	116757239	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:116757239C>T	uc011ebg.2	+	5	1764	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	DSE_uc003pws.3_Silent_p.F536F|DSE_uc003pwt.3_Silent_p.F536F|DSE_uc003pwu.3_Silent_p.F203F	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	536					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GGGTGGTTTTCATCCGAGGAG	0.493000														26			18		0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68011711	68011711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:68011711G>A	uc002evc.4	-	5	947	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C	DPEP3_uc010cex.3_Missense_Mutation_p.R285C	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.	260					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		ATGCCCAGGCGGTTCAACTCC	0.498000														23			18		0	0	1	0	0
HEPN1	641654	broad.mit.edu	37	11	124789726	124789726	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124789726G>A	uc001qbj.1	+	0	581	c.80G>A	c.(79-81)gGa>gAa	p.G27E	HEPACAM_uc009zbj.3_3'UTR|HEPACAM_uc001qbk.3_3'UTR	NM_001037558	NP_001032647	Q6WQI6	HEPN1_HUMAN	Homo sapiens hepatocellular carcinoma, down-regulated 1 (HEPN1), mRNA.	27						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		GGGATGCAAGGACCCTTGGAG	0.507000														68			5		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2622120	2622120	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2622120G>A	uc009zdu.1	+	8	1673	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	CACNA1C_uc001qkc.2_Missense_Mutation_p.E454K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E454K|CACNA1C_uc001qke.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E454K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E454K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkj.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkk.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkm.2_Missense_Mutation_p.E454K|CACNA1C_uc001qko.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E454K|CACNA1C_uc001qku.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E454K|CACNA1C_uc001qks.2_Missense_Mutation_p.E454K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E454K|CACNA1C_uc009zdv.1_Missense_Mutation_p.E451K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E454K|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Missense_Mutation_p.E190K|CACNA1C_uc009zdy.1_Missense_Mutation_p.E79K|CACNA1C_uc001qkv.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	454					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GAATGAGGACGAAGGCATGGA	0.552000														7			5		0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52967192	52967192	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52967192G>A	uc001sap.1	-	0	418	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	124	Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		ACGTTGAGGGGGGCCAAGAGG	0.592000														122			21		0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68835021	68835021	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:68835021T>C	uc001oos.2	+	7	893	c.777T>C	c.(775-777)ccT>ccC	p.P259P	TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Silent_p.P174P|TPCN2_uc010rqg.1_Silent_p.P259P|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	259					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGAACCTGCCTGAGTCTCTGA	0.652000														78			28		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100523597	100523597	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:100523597C>T	uc003yiv.3	+	28	4676	c.4565C>T	c.(4564-4566)aCc>aTc	p.T1522I	VPS13B_uc003yiw.3_Missense_Mutation_p.T1497I|VPS13B_uc003yix.1_Missense_Mutation_p.T992I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1522					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)			CTACCAAAGACCCAAAAAGAG	0.358000														48			15		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94574247	94574247	+	Nonsense_Mutation	SNP	G	A	A	rs61748531		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94574247G>A	uc001dqh.3	-	3	432	c.328C>T	c.(328-330)Caa>Taa	p.Q110*	ABCA4_uc010otn.1_Nonsense_Mutation_p.Q110*	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	110					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)		AGGAGTTCTTGAAAATCTCGA	0.418000														46			24		0	0	1	0	0
ZNF596	169270	broad.mit.edu	37	8	192971	192971	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:192971C>T	uc003wot.3	+	2	385	c.97C>T	c.(97-99)Caa>Taa	p.Q33*	ZNF596_uc003wou.3_5'UTR|ZNF596_uc003wov.3_Nonsense_Mutation_p.Q33*|ZNF596_uc003wow.3_Nonsense_Mutation_p.Q33*	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	Homo sapiens zinc finger protein 596 (ZNF596), transcript variant 3, mRNA.	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		AAAGCTGTTTCAAGATGTGAT	0.393000														46			31		0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282609	59282609	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59282609C>T	uc010rkv.2	+	0	224	c.224C>T	c.(223-225)tCc>tTc	p.S75F		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TGCTTTTCCTCCATCACAGCT	0.458000														187			17		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12316366	12316366	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:12316366C>T	uc001mkg.1	+	2	1679	c.1388C>T	c.(1387-1389)cCt>cTt	p.P463L		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	463	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.P462P(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctcctcct	0.577000														14			13		0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183211937	183211938	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183211937_183211938CC>TT	uc003flr.3	-	4	1337_1338	c.1279_1280GG>AA	c.(1279-1281)gga>AAa	p.G427K	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_Non-coding_Transcript	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	427								p.G427*(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTCAAAGCCTCCGATCACATAG	0.455000														139			41		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347522	140347522	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140347522G>A	uc003lii.3	+	0	1776	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.D391N	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	391	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)			CAGTGTCAATGACCAAGACTC	0.552000														69			30		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94083536	94083536	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94083536C>T	uc001ybv.1	+	25	3728	c.3645C>T	c.(3643-3645)tgC>tgT	p.C1215C	UNC79_uc001ybs.1_Silent_p.C1193C	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1370						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						TCAAATACTGCTCTTGTCCTC	0.453000														102			40		0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23517687	23517687	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23517687G>A	uc001wil.3	-	13	2221	c.1961_splice	c.e13-1	p.A654_splice	CDH24_uc010akf.3_Splice_Site_p.A616_splice	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	654					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GCACCACCAGGGCTGCGCGAG	0.647000														91			29		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143049044	143049044	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143049044G>A	uc003wcr.1	+	22	3040	c.2953G>A	c.(2953-2955)Gaa>Aaa	p.E985K	CLCN1_uc011ktc.1_Missense_Mutation_p.E597K	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	985					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGATGAGGATGAACTGATCCT	0.617000														92			27		0	0	1	0	0
TMEM56	148534	broad.mit.edu	37	1	95657146	95657146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:95657146G>A	uc021oqe.1	+	6	890	c.514G>A	c.(514-516)Gct>Act	p.A172T	TMEM56_uc001drd.4_Intron|AK090700_uc001dre.1_Intron|TMEM56_uc001drb.3_Missense_Mutation_p.A172T	NM_001199679	NP_001186608	Q96MV1	TMM56_HUMAN	Homo sapiens transmembrane protein 56 (TMEM56), transcript variant 1, mRNA.	172	TLC.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		GTTTTCTAAAGCTATCGTTAT	0.368000														123			51		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111616007	111616007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:111616007G>A	uc003kpv.1	-	2	492	c.218C>T	c.(217-219)cCt>cTt	p.P73L	EPB41L4A_uc003kpw.1_Missense_Mutation_p.P73L	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	73	FERM.					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)		GGTTTTTGCAGGATCCAGCCA	0.333000														228			42		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103124631	103124631	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103124631G>A	uc002tbz.4	+	4	1749	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	431					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						GGTGTTCGAGGAGCTGGAAGT	0.398000														91			30		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24528509	24528509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24528509C>T	uc001wlj.2	+	20	1814	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	553										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGCAGACTCCCGGCTGAAGCT	0.657000														31			16		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73834126	73834126	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:73834126G>A	uc001ouu.2	-	7	1499	c.1272C>T	c.(1270-1272)tcC>tcT	p.S424S	C2CD3_uc001ouv.2_Silent_p.S424S	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	424						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CAGGAGATGGGGAATCTGGAG	0.428000														53			18		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158637664	158637664	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158637664C>T	uc001fst.1	-	14	2221	c.2022G>A	c.(2020-2022)gaG>gaA	p.E674E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	674					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTTTGTAGCCTCCAGCAACT	0.423000														51			20		0	0	1	0	0
CCDC90A	63933	broad.mit.edu	37	6	13807255	13807255	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:13807255G>A	uc003nbc.2	-	1	568	c.437C>T	c.(436-438)tCc>tTc	p.S146F	CCDC90A_uc010jpf.3_Non-coding_Transcript	NM_001031713	NP_001026883	Q96AQ8	CC90A_HUMAN	Homo sapiens coiled-coil domain containing 90A (CCDC90A), mRNA.	146						integral to membrane|mitochondrion				cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6	Breast(50;0.0027)|Ovarian(93;0.0964)	all_hematologic(90;0.117)				CAGCTGCAGGGATCCAGCAGA	0.473000														65			40		0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219538350	219538350	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219538350C>T	uc002viu.3	+	2	366	c.87C>T	c.(85-87)gtC>gtT	p.V29V	STK36_uc002viv.3_Silent_p.V29V|RNF25_uc002vit.3_5'Flank|RNF25_uc010fvw.3_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	29	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		ACTGACAGGTCGTGGCCCTGA	0.458000														45			9		0	0	1	0	0
TRIL	9865	broad.mit.edu	37	7	28997319	28997319	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:28997319C>T	uc003szt.3	-	2	708	c.341G>A	c.(340-342)gGg>gAg	p.G114E	DQ601810_uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	Homo sapiens TLR4 interactor with leucine-rich repeats (TRIL), mRNA.	115					inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										GAGGTTGTTCCCCAGGTACAG	0.657000														11			4		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75596679	75596679	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:75596679C>T	uc003kei.1	+	10	1896	c.1762C>T	c.(1762-1764)Ctg>Ttg	p.L588L		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	588					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGTCAACTTTCTGGGGACATT	0.413000														184			40		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28273189	28273189	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:28273189C>T	uc009xky.3	-	4	704	c.606G>A	c.(604-606)aaG>aaA	p.K202K	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Silent_p.K202K|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	202							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTATATCCTTCTTCACCGTCA	0.338000														119			54		0	0	1	0	0
FCER2	2208	broad.mit.edu	37	19	7761754	7761754	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7761754C>T	uc002mhn.3	-	7	643	c.426G>A	c.(424-426)cgG>cgA	p.R142R	FCER2_uc021unx.1_Silent_p.R141R|FCER2_uc002mhm.2_Silent_p.R142R|FCER2_uc010xjt.2_Silent_p.R64R|FCER2_uc010dvo.2_Silent_p.R142R	NM_001220500	NP_001207429	P06734	FCER2_HUMAN	Homo sapiens Fc fragment of IgE, low affinity II, receptor for (CD23) (FCER2), transcript variant 3, mRNA.	142					positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						TCACCTCCTCCCGGAGTCTTT	0.587000														9			4		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325407	47325407	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47325407G>A	uc001cqo.1	-	8		c.1161C>T								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		GCGTAGAGGCGGAGGCATTCC	0.493000														87			20		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104031893	104031893	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:104031893G>A	uc001tjw.3	+	7	995	c.809G>A	c.(808-810)gGg>gAg	p.G270E		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	270	EGF-like 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGCTACCGTGGGGATGGCCAA	0.502000														83			28		0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283671	40283671	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:40283671C>T	uc003ayg.3	-	1	333	c.82G>A	c.(82-84)Gac>Aac	p.D28N		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	28	ENTH.							p.D28N(2)|p.D28Y(2)|p.N27N(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CCCCAAGGGTCGTTAGAAGTT	0.393000														100			51		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81675169	81675169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81675169C>T	uc001szo.2	-	26	3240	c.3079G>A	c.(3079-3081)Gaa>Aaa	p.E1027K	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E926K|PPFIA2_uc021rbh.1_Missense_Mutation_p.E922K|PPFIA2_uc021rbi.1_Missense_Mutation_p.E1021K|PPFIA2_uc021rbj.1_Missense_Mutation_p.E1006K|PPFIA2_uc021rbk.1_Missense_Mutation_p.E1012K|PPFIA2_uc021rbl.1_Missense_Mutation_p.E1027K|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.E563K|PPFIA2_uc021rbf.1_Missense_Mutation_p.E213K	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	926								p.E1027K(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGAAGCCATTCATTTCCAATC	0.393000														81			29		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189705318	189705318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:189705318C>T	uc011bsk.2	-	4	1484	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	LEPREL1_uc003fsg.3_Missense_Mutation_p.E185K	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	366					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGTCTCACCTCTCTGGCCTCA	0.418000														30			18		0	0	1	0	0
FAM110C	642273	broad.mit.edu	37	2	45946	45946	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:45946C>T	uc010yim.2	-	0	643	c.440G>A	c.(439-441)gGg>gAg	p.G147E		NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN	Homo sapiens family with sequence similarity 110, member C (FAM110C), mRNA.	147						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CTCCGGGTTCCCGGCCTTGCC	0.756000														9			7		0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31585462	31585462	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31585462C>T	uc002wyi.3	-	5	465	c.372G>A	c.(370-372)tcG>tcA	p.S124S		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	124					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CTTTCATTTTCGATGGTAAGT	0.473000														39			22		0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38910780	38910780	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38910780G>T	uc021uub.1	-	4	714	c.500C>A	c.(499-501)tCt>tAt	p.S167Y	RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Missense_Mutation_p.S167Y|RASGRP4_uc021uua.1_Missense_Mutation_p.S167Y|RASGRP4_uc021uuc.1_Missense_Mutation_p.S167Y|RASGRP4_uc021uud.1_Missense_Mutation_p.S167Y|RASGRP4_uc021uue.1_Missense_Mutation_p.S167Y|RASGRP4_uc021uuf.1_Missense_Mutation_p.S167Y	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	167	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGTCAGAAGAGTCTCCCAG	0.597000														35			5		0.00198382	0.00198529	1	1	0
GLB1	2720	broad.mit.edu	37	3	33114106	33114106	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:33114106G>A	uc011axk.1	-	2	436	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	GLB1_uc003cfh.1_Missense_Mutation_p.R29C|GLB1_uc003cfi.1_Missense_Mutation_p.R59C|GLB1_uc003cfj.1_Missense_Mutation_p.R59C	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	59					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CGGGGCACACGGGAGTAGTGA	0.542000														69			19		0	0	1	0	0
RAC2	5880	broad.mit.edu	37	22	37627425	37627425	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37627425G>A	uc003arc.3	-	4	411	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_002872	NP_002863	P15153	RAC2_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) (RAC2), mRNA.	98					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCACTTCTGGGAACCACTGGG	0.627000														51			21		0	0	1	0	0
FOXR1	283150	broad.mit.edu	37	11	118849510	118849510	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118849510G>A	uc001pui.3	+	1	305	c.80G>A	c.(79-81)cGa>cAa	p.R27Q	FOXR1_uc001puj.3_Non-coding_Transcript|FOXR1_uc001puk.3_5'UTR	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	Homo sapiens forkhead box R1 (FOXR1), mRNA.	27					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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	p.R27Q(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TATAAACTCCGAATTGTTAAG	0.448000														132			46		0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31931244	31931244	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31931244C>T	uc003nyn.1	+	13	1847	c.1458C>T	c.(1456-1458)ccC>ccT	p.P486P	SKIV2L_uc011dou.1_Silent_p.P328P|SKIV2L_uc011dov.1_Silent_p.P293P	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	486						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCCCCGTGCCCCTGGAGCACT	0.562000														62			18		0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354563	42354563	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42354563C>T	uc010xwe.2	+	6	1022	c.939C>T	c.(937-939)ttC>ttT	p.F313F	DMRTC2_uc002orr.1_Silent_p.F190F|DMRTC2_uc002ors.3_Intron	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	275	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						AGCGGGGGTTCCCAGTCTGCT	0.617000														79			24		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518778	113518778	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:113518778C>T	uc010ljy.1	-	3	2400	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	790					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TACTGTATCTCGTTGACAAAG	0.398000														63			19		0	0	1	0	0
EHF	26298	broad.mit.edu	37	11	34668007	34668007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:34668007G>A	uc021qfu.1	+	2	311	c.185G>A	c.(184-186)gGc>gAc	p.G62D	EHF_uc001mvr.2_Missense_Mutation_p.G40D|EHF_uc009yke.2_Missense_Mutation_p.G40D|EHF_uc009ykf.2_Missense_Mutation_p.G43D	NM_001206616	NP_001193545	Q9NZC4	EHF_HUMAN	Homo sapiens ets homologous factor (EHF), transcript variant 1, mRNA.	40	PNT.				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			TTTTTTGGAGGCCAGTGGCAT	0.527000														65			55		0	0	1	0	0
PDLIM3	27295	broad.mit.edu	37	4	186429496	186429496	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:186429496G>A	uc003ixw.4	-	4	743	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	PDLIM3_uc003ixx.4_Intron|PDLIM3_uc010isi.3_Intron	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	Homo sapiens PDZ and LIM domain 3 (PDLIM3), transcript variant 1, mRNA.	207						sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		ACCTGACCCTGGAGTGTTTCC	0.418000														96			40		0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115439700	115439700	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:115439700G>A	uc003ebr.2	+	3	1470	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	GAP43_uc003ebq.2_Missense_Mutation_p.E230K	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	230					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		TAAAGAAGAGGAACCTGAGGC	0.507000														314			20		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118598527	118598527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:118598527C>T	uc001ehk.2	-	18	2619	c.2551G>A	c.(2551-2553)Gaa>Aaa	p.E851K	SPAG17_uc021oss.1_Intron	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	851						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCAACAAGTTCCAAATAATTC	0.318000														63			28		0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203144855	203144855	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203144855G>A	uc001gzh.1	-	0	88	c.29C>T	c.(28-30)cCt>cTt	p.P10L		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	Homo sapiens myosin binding protein H (MYBPH), mRNA.	10					cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		ACTGCAGGCAGGGCCCTCGGA	0.627000														86			39		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	54025254	54025254	+	Silent	SNP	C	T	T	rs148643501	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54025254C>T	uc002acj.2	-	1	135	c.93G>A	c.(91-93)acG>acA	p.T31T	WDR72_uc010bfi.1_Silent_p.T31T	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	31										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CAGTCACAATCGTTCGCTGGT	0.512000														110			40		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	344305	344305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:344305C>T	uc001qic.2	-	6	872	c.782G>A	c.(781-783)gGa>gAa	p.G261E	SLC6A13_uc009zdj.2_Missense_Mutation_p.G261E|SLC6A13_uc010sdl.2_Missense_Mutation_p.G169E|SLC6A13_uc010sdm.1_Missense_Mutation_p.G142E	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	261					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AAACTGAATTCCTTGGGCTGC	0.557000														69			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073656	9073656	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9073656G>A	uc002mkp.3	-	2	13994	c.13790C>T	c.(13789-13791)tCc>tTc	p.S4597F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4599	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						AGTCAGGGAGGATGTTGGCTC	0.512000														36			19		0	0	1	0	0
RHBDD1	84236	broad.mit.edu	37	2	227731973	227731973	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:227731973C>T	uc021vxo.1	+	4	1029	c.505C>T	c.(505-507)Cct>Tct	p.P169S	RHBDD1_uc002voi.3_Missense_Mutation_p.P169S|RHBDD1_uc010fxc.3_Missense_Mutation_p.P169S	NM_001167608	NP_115652	Q8TEB9	RHBD1_HUMAN	Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript variant 2, mRNA.	169						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTTGGGCTTTCCTGTACCGAA	0.393000														203			65		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56490890	56490890	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56490890G>A	uc002qmh.3	+	8	3078	c.3007G>A	c.(3007-3009)Gag>Aag	p.E1003K	NLRP8_uc010etg.3_Missense_Mutation_p.E984K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	1003						cytoplasm	ATP binding	p.C1002C(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GACCTTGTGCGAGGCCTTCTC	0.478000														106			42		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6661841	6661841	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6661841C>T	uc001mem.1	-	1	1405	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	335	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R335R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACCATCTCGTGCTTGCAC	0.587000														80			50		0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9296535	9296535	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9296535C>T	uc002mkz.1	+	0	266	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	26					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F26L(2)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TACAGCCGTTCATATTTGGGC	0.493000														54			29		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127686617	127686617	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:127686617C>T	uc003kuu.3	-	20	3194	c.2755G>A	c.(2755-2757)Gaa>Aaa	p.E919K	FBN2_uc003kuv.2_Missense_Mutation_p.E886K	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	919	TB 4.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.S918Y(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCACAGCATTCAGATTTCAGA	0.552000														80			28		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21063133	21063133	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21063133G>A	uc010vbe.2	-	28	4096	c.4096C>T	c.(4096-4098)Caa>Taa	p.Q1366*		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1366	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAGATCCATTGGAAATCATTC	0.527000														91			43		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916742	42916742	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42916742C>T	uc003cmh.3	-	0	892	c.567G>A	c.(565-567)acG>acA	p.T189T	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	189					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)		CCTTGTCCTTCGTGTAGCCGA	0.522000														80			17		0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	527691	527691	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:527691C>T	uc003gak.4	+	11	2792	c.2656C>T	c.(2656-2658)Ctg>Ttg	p.L886L	PIGG_uc003gaj.4_Silent_p.L878L|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Silent_p.L753L|PIGG_uc003gal.4_Silent_p.L797L	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	886					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						AGCCGTGCTCCTGACAGCGTT	0.592000														49			28		0	0	1	0	0
TNNI2	7136	broad.mit.edu	37	11	1862727	1862727	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1862727C>T	uc021qbv.1	+	6	517	c.495C>T	c.(493-495)atC>atT	p.I165I	TNNI2_uc021qbt.1_Silent_p.I144I|TNNI2_uc021qbu.1_Silent_p.I144I|TNNI2_uc010qxe.1_Silent_p.I165I	NM_003282	NP_003273	P48788	TNNI2_HUMAN	Homo sapiens troponin I type 2 (skeletal, fast) (TNNI2), transcript variant 1, mRNA.	165					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAAGAACATCGAGGAGAAGT	0.642000														53			19		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167162335	167162335	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:167162335C>T	uc010fpl.3	-	4	904	c.563G>A	c.(562-564)tGg>tAg	p.W188*	SCN9A_uc002udr.1_Nonsense_Mutation_p.W59*|SCN9A_uc002uds.1_Nonsense_Mutation_p.W59*|SCN9A_uc002udt.1_Nonsense_Mutation_p.W59*	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	188						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGCCAGTTCCACGGGTCACG	0.373000														62			20		0	0	1	0	0
KRT27	342574	broad.mit.edu	37	17	38935980	38935980	+	Missense_Mutation	SNP	C	A	A	rs76225348	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:38935980C>A	uc002hvg.3	-	3	859	c.818G>T	c.(817-819)aGg>aTg	p.R273M		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	273	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CTCCGCGTCCCTGCGGTTCTG	0.642000														20			11		2.27111e-07	2.27657e-07	1	1	0
WDR75	84128	broad.mit.edu	37	2	190327291	190327291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:190327291C>T	uc002uql.1	+	8	920	c.860C>T	c.(859-861)cCg>cTg	p.P287L	WDR75_uc002uqm.1_Missense_Mutation_p.P223L|WDR75_uc002uqn.1_Missense_Mutation_p.P65L	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	287						nucleolus		p.P287Q(4)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			GAGTTTCTCCCGCGTTTAGGA	0.428000														115			50		0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63277357	63277357	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63277357C>T	uc001nxc.2	+	3	890	c.549C>T	c.(547-549)ttC>ttT	p.F183F	LGALS12_uc001nxa.2_Silent_p.F182F|LGALS12_uc001nxb.2_Silent_p.F182F|LGALS12_uc001nxd.2_Silent_p.F121F|LGALS12_uc001nxe.2_Silent_p.F121F|LGALS12_uc009yot.2_Silent_p.F142F	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	182	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CTGTTGGATTCCTGAACATCA	0.557000														24			5		0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125591686	125591686	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:125591686C>T	uc001uhc.3	+	7	993	c.787C>T	c.(787-789)Ctt>Ttt	p.L263F	AACS_uc009zyg.2_Non-coding_Transcript|AACS_uc001uhd.3_Missense_Mutation_p.L263F|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	263					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GGATGACTTTCTTGCCACCGG	0.607000														60			25		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324972	152324972	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152324972G>A	uc001ezw.4	-	2	5363	c.5290C>T	c.(5290-5292)Cat>Tat	p.H1764Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1764							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)			TGTCTCTCATGAACTATGGAT	0.507000														254			93		0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89658656	89658656	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:89658656C>T	uc001dnb.3	-	4	717	c.601G>A	c.(601-603)Gag>Aag	p.E201K		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	201						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AACTTTAGCTCCAGGGTAAAA	0.493000														94			32		0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1428303	1428303	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:1428303G>A	uc010nct.2	+	13	1456	c.1134G>A	c.(1132-1134)tgG>tgA	p.W378*	CRLF2_uc022brt.1_Intron|CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_Nonsense_Mutation_p.W378*|CSF2RA_uc004cpo.2_Nonsense_Mutation_p.W378*|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Nonsense_Mutation_p.W245*|CSF2RA_uc004cpp.2_Missense_Mutation_p.G319R|CSF2RA_uc010ncv.2_Nonsense_Mutation_p.W412*|CSF2RA_uc004cpr.2_3'UTR	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	378						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGATCATCTGGGAGGAATTCA	0.512000														76			39		0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650927	90650927	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:90650927C>T	uc001xye.1	+	1	1249	c.807C>T	c.(805-807)gtC>gtT	p.V269V		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	269						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TCATGGGTGTCTGCTGCATCT	0.532000														88			36		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180280	124180280	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124180280C>T	uc010sag.2	-	0	383	c.383G>A	c.(382-384)aGc>aAc	p.S128N		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	128					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)		AAGCAGTGGGCTACAGATGGC	0.498000														26			6		0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701557	143701558	+	Silent	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143701557_143701558CC>TT	uc003wdt.1	+	0	468_469	c.468_469CC>TT	c.(466-471)tccctg>tcTTtg	p.156_157SL>SL		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TTGGCATCTCCCTGGCGAAGAT	0.535000														46			27		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33895342	33895342	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:33895342C>T	uc001zhi.3	+	17	2011	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	RYR3_uc010bar.3_Silent_p.F647F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	647	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAACATCTTCCTGGGAGTCG	0.522000														109			22		0	0	1	0	0
ANKRD2	26287	broad.mit.edu	37	10	99343372	99343372	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:99343372G>A	uc001knw.3	+	8	1182	c.973G>A	c.(973-975)Gct>Act	p.A325T	PI4K2A_uc001knx.2_5'Flank|PI4K2A_uc001kny.3_5'Flank|PI4K2A_uc001knz.3_5'Flank|PI4K2A_uc010qoy.1_5'Flank|ANKRD2_uc009xvu.3_Missense_Mutation_p.A292T	NM_020349	NP_065082	Q9GZV1	ANKR2_HUMAN	Homo sapiens ankyrin repeat domain 2 (stretch responsive muscle) (ANKRD2), transcript variant 1, mRNA.	325					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GCTCTGGCAGGCTGATACCCG	0.647000														14			8		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140494159	140494159	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:140494159G>A	uc003vwc.4	-	7	1150	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	363					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		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)	GAGCTGATGAGGATCGGTCTC	0.408000		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					93			33		0	0	1	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309848	22309848	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22309848G>A	uc001wbx.2	+	1	333	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 232.																		CAGTGGTAATGAAGATGGAAG	0.463000														99			31		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903178	6903178	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:6903178C>T	uc003bqm.2	+	0	377	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Nonsense_Mutation_p.Q35*|GRM7_uc003bql.2_Nonsense_Mutation_p.Q35*	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	35					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGCGCGCGGCCAGGAGATGTA	0.701000														4			3		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597061	136597061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:136597061C>T	uc003qgx.1	-	4	1855	c.1602G>A	c.(1600-1602)agG>agA	p.R534R	BCLAF1_uc003qgy.1_Silent_p.R532R|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.R532R|BCLAF1_uc003qgw.1_Silent_p.R361R	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	534					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R534S(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCATTTTGATCCTAAGTGGGC	0.433000														264			45		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80615938	80615938	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:80615938C>T	uc001szd.3	+	5	381	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTGAAACATTCGATGGCATCT	0.413000														75			24		0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52699168	52699168	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52699168G>A	uc010snq.2	+	5	1013	c.880G>A	c.(880-882)Gag>Aag	p.E294K	KRT86_uc009zmg.3_Missense_Mutation_p.E294K|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.E294K	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	294	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCTGAGGCCGAGTCCTGGTA	0.537000														85			25		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229372	140229372	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140229372G>A	uc003lhu.2	+	0	2016	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D	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_uc003lht.1_Missense_Mutation_p.G431D	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	445	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)			CGGGACGGGGGCTCGCCTTCA	0.632000														87			14		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104511098	104511098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:104511098G>A	uc003hxe.1	-	4	1280	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	380						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATCATAGCTGGAAACTTTGAT	0.453000														69			19		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36122792	36122792	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:36122792G>A	uc004ddk.1	+	7	1215	c.1029G>A	c.(1027-1029)tgG>tgA	p.W343*		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	343						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						ATGTGATATGGAAAAACTGTC	0.328000														34			7		0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51693482	51693482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51693482C>T	uc001ryg.3	-	5	477	c.425G>A	c.(424-426)cGg>cAg	p.R142Q	BIN2_uc009zlz.3_Missense_Mutation_p.R110Q|BIN2_uc001ryh.3_Missense_Mutation_p.R18Q|BIN2_uc010sng.2_Missense_Mutation_p.R116Q	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	142	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TTTCCGACCCCGCTTGGCAAT	0.498000														88			55		0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185165676	185165676	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:185165676C>T	uc010hyf.3	+	5	1242	c.951C>T	c.(949-951)gtC>gtT	p.V317V	MAP3K13_uc011brt.2_Silent_p.V110V|MAP3K13_uc003fph.4_Silent_p.V85V|MAP3K13_uc011bru.2_Silent_p.V173V|MAP3K13_uc003fpi.3_Silent_p.V317V|MAP3K13_uc010hyg.3_Silent_p.V7V	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	317	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding	p.V317F(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CTGGCACGGTCGCATGGATGG	0.448000														43			6		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	20998675	20998675	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:20998675C>T	uc001bdr.4	-	11	2596	c.2478G>A	c.(2476-2478)gaG>gaA	p.E826E	KIF17_uc001bdp.4_Silent_p.E104E|KIF17_uc009vpx.3_Silent_p.E196E|KIF17_uc001bds.4_Silent_p.E826E	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	826					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGATCTCCACCTCTGCTGCCC	0.557000														27			9		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8176871	8176871	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8176871G>A	uc002mjf.3	-	29	3968	c.3951C>T	c.(3949-3951)ttC>ttT	p.F1317F		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1317	EGF-like 19; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTGACATTCGAAGCCATCCC	0.637000														60			35		0	0	1	0	0
TM4SF18	116441	broad.mit.edu	37	3	149040164	149040164	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:149040164C>T	uc021xfl.1	-	3	560	c.470G>A	c.(469-471)tGg>tAg	p.W157*	TM4SF18_uc003exa.3_Nonsense_Mutation_p.W157*	NM_001184723	NP_620141	Q96CE8	T4S18_HUMAN	Homo sapiens transmembrane 4 L six family member 18 (TM4SF18), transcript variant 2, mRNA.	157						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AATGATGTTCCACTCCACAAC	0.443000														82			8		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168112721	168112721	+	Missense_Mutation	SNP	C	T	T	rs143177032		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:168112721C>T	uc010jjg.3	-	30	3967	c.3547G>A	c.(3547-3549)Gtc>Atc	p.V1183I	SLIT3_uc003mab.3_Missense_Mutation_p.V1176I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1176	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGGGTCGGACCTTGGCGGAG	0.607000														65			26		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77286782	77286782	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77286782C>T	uc004aji.3	+	8	1271	c.1222C>T	c.(1222-1224)Cag>Tag	p.Q408*	RORB_uc004ajh.3_Nonsense_Mutation_p.Q397*	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	408	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACATGTGATTCAGAAGAATCA	0.443000														42			20		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940775	22940775	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22940775C>T	uc021urt.1	-	3	2091	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.E646*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAGGGTTTCTCTCCAGTATGA	0.368000														65			24		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756197	10756197	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10756197C>T	uc003wtk.1	-	2	1218	c.1191G>A	c.(1189-1191)atG>atA	p.M397I		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	397						integral to membrane		p.M397I(2)|p.M397V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TCCAGAAGGCCATGGCGCACC	0.512000														60			7		0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241569435	241569435	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241569435C>T	uc010fzi.2	+	5	1031	c.159C>T	c.(157-159)ggC>ggT	p.G53G	GPR35_uc010fzh.2_Silent_p.G53G|GPR35_uc021vze.1_Silent_p.G22G|GPR35_uc002vzs.2_Silent_p.G22G	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	22						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TCAAGCTGGGCTTCTACGCCT	0.647000														65			31		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149482623	149482623	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149482623G>A	uc010lpk.3	+	21	3039	c.3039G>A	c.(3037-3039)cgG>cgA	p.R1013R	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1013	VWFD 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCAGTGGGCGGTGCCAGGCAT	0.672000														8			4		0	0	1	0	0
PMPCA	23203	broad.mit.edu	37	9	139313499	139313499	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139313499C>T	uc004chl.3	+	10	1209	c.1204C>T	c.(1204-1206)Cga>Tga	p.R402*	PMPCA_uc011mdz.2_Nonsense_Mutation_p.R271*|PMPCA_uc010nbl.3_Nonsense_Mutation_p.R302*|PMPCA_uc004chm.1_Nonsense_Mutation_p.R152*|PMPCA_uc004chn.1_5'UTR	NM_015160	NP_055975	Q10713	MPPA_HUMAN	Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA.	402					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TTCGCAGGTTCGAGAAATGGT	0.567000														96			18		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20585969	20585969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:20585969G>A	uc002wrz.3	-	14	2031	c.1888C>T	c.(1888-1890)Ctc>Ttc	p.L630F	RALGAPA2_uc002wry.3_Missense_Mutation_p.L245F|RALGAPA2_uc010zsg.2_Missense_Mutation_p.L31F	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	630					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CATTCCGTGAGGGAGGACAGC	0.483000														42			12		0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163027502	163027502	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:163027502G>A	uc002ucd.3	-	25	2478	c.2270C>T	c.(2269-2271)tCt>tTt	p.S757F	FAP_uc010fpc.3_Missense_Mutation_p.S306F|FAP_uc010zct.2_Missense_Mutation_p.S732F	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	757					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GTCTGACAAAGAGAAACACTG	0.413000														149			15		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95602890	95602890	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:95602890C>A	uc001tdp.4	-	1	2394	c.2170G>T	c.(2170-2172)Gac>Tac	p.D724Y	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	724					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AGCATTTGGTCATCCAAAGAC	0.463000														107			19		4.63292e-17	4.65672e-17	1	1	0
PGLYRP3	114771	broad.mit.edu	37	1	153274984	153274984	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153274984G>A	uc001fbn.1	-	4	682	c.629C>T	c.(628-630)gCt>gTt	p.A210V		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	210					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTTGTGCCAGCGGTGTGGAT	0.488000														86			45		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56235370	56235370	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56235370G>A	uc002qly.3	-	3	2163	c.2135C>T	c.(2134-2136)cCa>cTa	p.P712L		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	712						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTTGCACATTGGATGTTTCAG	0.478000														68			47		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2367709	2367709	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2367709G>A	uc002cpy.1	-	8	1642	c.930C>T	c.(928-930)ctC>ctT	p.L310L	ABCA3_uc010bsk.1_Silent_p.L310L|ABCA3_uc010bsl.1_Silent_p.L310L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	310					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GGAAGAACAAGAGGAACCAGG	0.627000														69			6		0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48419867	48419867	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48419867C>T	uc003csr.3	+	5	652	c.466C>T	c.(466-468)Cct>Tct	p.P156S	FBXW12_uc010hjv.3_Missense_Mutation_p.P137S|FBXW12_uc003css.3_Intron|FBXW12_uc010hjw.3_Intron|Metazoa_SRP_uc021wxm.1_5'Flank	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	156										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGTAACCCTCCCTCAGATGCA	0.507000														56			6		0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114202624	114202624	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:114202624C>T	uc001vtu.4	+	11	2138	c.1777C>T	c.(1777-1779)Ctg>Ttg	p.L593L		NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	Homo sapiens transmembrane and coiled-coil domains 3 (TMCO3), mRNA.	593						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GCAGTTTCTCCTGGCGGCGCT	0.557000														64			18		0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78335025	78335025	+	Nonsense_Mutation	SNP	C	T	T	rs142633526		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:78335025C>T	uc010thy.1	+	5	1028	c.985C>T	c.(985-987)Cga>Tga	p.R329*	SLAIN1_uc001vkk.2_Nonsense_Mutation_p.R252*|SLAIN1_uc010thz.1_Nonsense_Mutation_p.R207*|SLAIN1_uc001vkl.1_Nonsense_Mutation_p.R208*|SLAIN1_uc010aex.1_Nonsense_Mutation_p.R94*|SLAIN1_uc010aey.1_Nonsense_Mutation_p.R94*|SLAIN1_uc001vkm.2_Nonsense_Mutation_p.R208*	NM_001040153	NP_653196	Q8ND83	SLAI1_HUMAN	Homo sapiens SLAIN motif family, member 1 (SLAIN1), transcript variant 1, mRNA.	471								p.R252*(1)|p.P329H(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AGTGTCTATCCGACAGCCTCT	0.478000														109			37		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3424448	3424448	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3424448G>A	uc001akl.3	-	13	1927	c.1700C>T	c.(1699-1701)tCc>tTc	p.S567F	MEGF6_uc001akk.3_Missense_Mutation_p.S462F	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	567	EGF-like 10.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		ACAGCTGCAGGAGAAGCTGCA	0.602000														54			21		0	0	1	0	0
ZGPAT	84619	broad.mit.edu	37	20	62369176	62369176	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62369176C>T	uc002ygp.4	+	2	1050	c.101C>T	c.(100-102)cCc>cTc	p.P34L	ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_Missense_Mutation_p.P34L|SLC2A4RG_uc002ygq.3_5'Flank|SLC2A4RG_uc002ygr.3_5'Flank	NM_017806	NP_060276	Q8N5A5	ZGPAT_HUMAN	Homo sapiens Lck interacting transmembrane adaptor 1 (LIME1), mRNA.	405					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCCCCAAGGCCCGAGGACGCT	0.766000														6			4		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152531836	152531836	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152531836G>A	uc021vrb.1	-	32	3873	c.3844C>T	c.(3844-3846)Ctc>Ttc	p.L1282F	NEB_uc002txu.3_Missense_Mutation_p.L1282F|NEB_uc021vrc.1_Missense_Mutation_p.L1282F|NEB_uc010fnx.3_Missense_Mutation_p.L1282F|NEB_uc021vrd.1_Missense_Mutation_p.L1282F	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1282					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGGCCTGGAGAAACTGAGGA	0.373000														9			3		0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133805038	133805038	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:133805038C>T	uc004bzz.3	-	1	713	c.468G>A	c.(466-468)acG>acA	p.T156T	FIBCD1_uc011mcc.2_Silent_p.T156T|FIBCD1_uc011mcd.1_Silent_p.T164T	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	156					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CCATGCACTCCGTCTGCAGCT	0.721000														21			8		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38765020	38765020	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38765020C>T	uc003ciq.3	-	17	3253	c.3253G>A	c.(3253-3255)Gag>Aag	p.E1085K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1085					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTGCTGCCCTCAGAGGAGCTT	0.597000														13			4		0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47193357	47193357	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:47193357C>T	uc003bib.3	+	3	643	c.477C>T	c.(475-477)gcC>gcT	p.A159A	TBC1D22A_uc010haf.3_Silent_p.A129A|TBC1D22A_uc003bie.3_Intron|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Silent_p.A112A	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	159						intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CCAGCGATGCCGCCCCTCTGC	0.632000											OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		128			39		0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55614869	55614869	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55614869C>T	uc010spf.2	+	0	61	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TACAAACAACCCCGAGATGCA	0.373000														233			33		0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85799849	85799849	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:85799849G>A	uc003yct.4	+	7	869	c.735G>A	c.(733-735)aaG>aaA	p.K245K	RALYL_uc003ycq.4_Silent_p.K232K|RALYL_uc003ycr.4_Silent_p.K232K|RALYL_uc003ycs.4_Silent_p.K232K|RALYL_uc010lzy.3_Silent_p.K221K|RALYL_uc003ycu.4_Silent_p.K159K	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	232							RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						AAGCTCAGAAGAAGCAATTGG	0.483000														67			5		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152394450	152394450	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152394450C>T	uc021vrb.1	-	110	15964	c.15935G>A	c.(15934-15936)tGg>tAg	p.W5312*	NEB_uc002txr.3_Nonsense_Mutation_p.W1778*|NEB_uc002txu.3_Nonsense_Mutation_p.W7013*|NEB_uc021vrc.1_Nonsense_Mutation_p.W7013*|NEB_uc010fnx.3_Nonsense_Mutation_p.W5300*|NEB_uc021vrd.1_Nonsense_Mutation_p.W5312*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5312					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATGGACCTCCAGATACCCAA	0.393000														38			12		0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104230440	104230440	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104230440C>T	uc001kvt.3	+	4	489	c.270C>T	c.(268-270)tcC>tcT	p.S90S	TMEM180_uc001kvs.3_Intron|TMEM180_uc010qql.2_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.3_Silent_p.S90S	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	Homo sapiens transmembrane protein 180 (TMEM180), mRNA.	90						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCGGGCTCTCCTCAAGGGCTG	0.697000														135			32		0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46656397	46656397	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46656397C>T	uc003oyj.3	+	0	786	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	TDRD6_uc010jze.3_Missense_Mutation_p.R178C	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	178					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	p.R178C(2)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCTGCTCCATCGCCTGGTCCT	0.682000														75			22		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53766094	53766094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:53766094C>T	uc003dgv.4	+	17	2621	c.2458C>T	c.(2458-2460)Cct>Tct	p.P820S	CACNA1D_uc003dgu.4_Missense_Mutation_p.P840S|CACNA1D_uc003dgy.4_Missense_Mutation_p.P820S|CACNA1D_uc003dgw.4_Missense_Mutation_p.P487S|CACNA1D_uc003dgx.1_5'UTR	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	820					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCCCTATCCGCCTTGCGATGT	0.537000														68			7		0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786502	19786502	+	Silent	SNP	C	T	T	rs144667976		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:19786502C>T	uc003zoa.2	-	0	516	c.363G>A	c.(361-363)ccG>ccA	p.P121P	SLC24A2_uc003zob.2_Silent_p.P121P	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	121					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AGATGTCTTTCGGGTAGTCTC	0.428000														92			9		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55493984	55493984	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55493984G>A	uc021vbq.1	+	5	1029	c.918G>A	c.(916-918)ggG>ggA	p.G306G	NLRP2_uc010yfp.2_Silent_p.G283G|NLRP2_uc002qij.3_Silent_p.G306G|NLRP2_uc010esp.3_Silent_p.G284G|NLRP2_uc010esn.3_Silent_p.G282G|NLRP2_uc010eso.3_Silent_p.G303G	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	306	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACATCTGCGGGGACTGGGAGA	0.612000														53			25		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701746	103701746	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:103701746G>A	uc001vpy.4	-	4	1409	c.812C>T	c.(811-813)tCc>tTc	p.S271F		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	271					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AACGATGGTGGAACATAGCTG	0.463000														72			23		0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81050844	81050844	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81050844C>T	uc001kaf.2	+	9	1241	c.669C>T	c.(667-669)ttC>ttT	p.F223F	ZMIZ1_uc001kag.2_Silent_p.F99F|ZMIZ1_uc001kah.1_Silent_p.F99F	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	223					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGCAGCAGTTCTCAGCCAAGG	0.662000														67			39		0	0	1	0	0
C16orf92	146378	broad.mit.edu	37	16	30035190	30035190	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30035190C>T	uc002dvr.2	+	1	214	c.207C>T	c.(205-207)atC>atT	p.I69I	BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvs.2_Silent_p.I91I	NM_001109659	NP_001103129	Q96LL3	CP092_HUMAN	Homo sapiens chromosome 16 open reading frame 92 (C16orf92), transcript variant 1, mRNA.	91						integral to membrane				breast(3)|lung(3)	6						AGAAACCCATCGTGTTCATTA	0.557000														43			5		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57257945	57257945	+	Missense_Mutation	SNP	C	T	T	rs147103664		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57257945C>T	uc001cym.4	-	1	947	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.E181K	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	181								p.E181K(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTCCTGGGTTCCTCTGGAGTA	0.488000														126			10		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130934774	130934774	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:130934774C>T	uc001uil.2	-	5	717	c.501G>A	c.(499-501)ggG>ggA	p.G167G	RIMBP2_uc001uim.3_Silent_p.G75G	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	167	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGTGGACCTTCCCCGAGTATC	0.562000														25			4		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50290710	50290710	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:50290710G>A	uc002xwg.1	-	10	1019	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	ATP9A_uc010gih.1_Missense_Mutation_p.S204F|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	340					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GATGATGTTGGAAAACAAGAG	0.512000														60			15		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74274418	74274418	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:74274418C>T	uc003hgs.4	+	3	451	c.378C>T	c.(376-378)ttC>ttT	p.F126F	ALB_uc011cbe.2_Intron|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Silent_p.F16F	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	126	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.C125R(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	ATGAATGCTTCTTGCAACACA	0.423000														36			20		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8185497	8185497	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:8185497G>A	uc003wsh.4	-	3	2795	c.2795C>T	c.(2794-2796)aCc>aTc	p.T932I		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	932							ATP binding|non-membrane spanning protein tyrosine kinase activity										CTGAAGCTGGGTGCTCCCGGT	0.657000														47			11		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5363817	5363817	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5363817C>T	uc001map.1	-	1	939	c.939_splice	c.e1+1	p.*313_splice	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.*313*	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTGGAGATCAGGTTCCAAT	0.383000														71			7		0	0	1	0	0
CIB3	117286	broad.mit.edu	37	19	16280507	16280507	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16280507G>A	uc002nds.3	-	2	132	c.132C>T	c.(130-132)ctC>ctT	p.L44L	CIB3_uc010eae.3_5'UTR|CIB3_uc010eaf.3_Intron|CIB3_uc010eag.3_Intron	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	44							calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						TGGTATAGTCGAGGGGCACGA	0.587000														35			6		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77662426	77662426	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77662426G>A	uc011cbx.2	+	4	4053	c.3100G>A	c.(3100-3102)Gag>Aag	p.E1034K	SHROOM3_uc011cbz.1_Missense_Mutation_p.E858K|SHROOM3_uc003hkf.1_Missense_Mutation_p.E909K|SHROOM3_uc003hkg.3_Missense_Mutation_p.E812K	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1034					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GATCGTGGAGGAGGCCGAACC	0.692000														36			7		0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74087233	74087233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74087233G>A	uc002jqs.3	-	6	987	c.892C>T	c.(892-894)Cct>Tct	p.P298S	EXOC7_uc010dgv.2_Missense_Mutation_p.P245S|EXOC7_uc010wsv.2_Missense_Mutation_p.P257S|EXOC7_uc010wsw.2_Missense_Mutation_p.P298S|EXOC7_uc002jqq.3_Missense_Mutation_p.P298S|EXOC7_uc010wsx.2_Intron|EXOC7_uc002jqr.3_Intron	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	298					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CCTTCCAGAGGAATGAGGTTA	0.577000														178			50		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018929	62018929	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62018929G>A	uc002jds.1	-	23	4790	c.4713C>T	c.(4711-4713)ccC>ccT	p.P1571P		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1571					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGCCGATGGAGGGGTTGCCGC	0.577000														51			5		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7231040	7231040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7231040C>T	uc003mxb.3	+	9	3200	c.2708C>T	c.(2707-2709)tCg>tTg	p.S903L	RREB1_uc021yky.1_Missense_Mutation_p.S903L|RREB1_uc003mxc.3_Missense_Mutation_p.S903L|RREB1_uc010jnx.3_Missense_Mutation_p.S903L|RREB1_uc021ykz.1_Missense_Mutation_p.S903L|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	903					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGGACTTCTCGCAGAAGGGC	0.597000														79			33		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39230877	39230877	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:39230877C>T	uc003cjk.2	-	1	289	c.60G>A	c.(58-60)gaG>gaA	p.E20E	XIRP1_uc003cji.3_Silent_p.E20E|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.E20E	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	20	Interaction with VASP.						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)		GGGGCAGGTCCTCTGCAGTTG	0.617000														35			20		0	0	1	0	0
TTC9C	283237	broad.mit.edu	37	11	62502996	62502996	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62502996C>T	uc001nux.3	+	2	1032	c.780C>T	c.(778-780)gcC>gcT	p.A260A	TTC9C_uc001nuy.3_Silent_p.A127A	NM_173810	NP_776171	Q8N5M4	TTC9C_HUMAN	Homo sapiens tetratricopeptide repeat domain 9C (TTC9C), mRNA.	127							binding			breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						ATGACCAGGCCCGCCACTACC	0.512000														23			15		0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26158069	26158069	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:26158069C>T	uc022bub.1	+	0	967	c.967C>T	c.(967-969)Cat>Tat	p.H323Y	MAGEB18_uc004dbq.2_Missense_Mutation_p.H323Y	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	323							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGCCAGGGCTCATACTGCTGC	0.502000														9			7		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94032059	94032059	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:94032059G>A	uc011cdt.2	+	3	948	c.690G>A	c.(688-690)gcG>gcA	p.A230A	GRID2_uc010ikx.3_Silent_p.A230A|GRID2_uc011cdu.2_Silent_p.A135A|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	230					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTAGGCGAGCGATCCTTGTTA	0.383000														100			24		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141044607	141044607	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:141044607C>T	uc003llm.3	-	18	2760	c.2682G>A	c.(2680-2682)tgG>tgA	p.W894*	ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Nonsense_Mutation_p.W556*|ARAP3_uc003lln.3_Nonsense_Mutation_p.W796*	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	894					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	p.W894*(2)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGGCTGCGTTCCATGCCGTGA	0.652000											OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			12		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898852	37898852	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:37898852C>T	uc002hsr.3	+	2	464	c.189C>T	c.(187-189)tcC>tcT	p.S63S	GRB7_uc002hss.3_Silent_p.S63S|GRB7_uc021twu.1_Silent_p.S86S|GRB7_uc010cwc.3_Silent_p.S63S|GRB7_uc002hst.3_Silent_p.S63S	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	63					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTGCCACCTCCCTCCCCTCTA	0.627000														90			63		0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154917523	154917523	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154917523G>A	uc001ffr.3	-	10	2232	c.2173C>T	c.(2173-2175)Cac>Tac	p.H725Y	PBXIP1_uc001ffs.3_Missense_Mutation_p.H696Y|PBXIP1_uc010pep.2_Missense_Mutation_p.H570Y	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	725	His-rich.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	p.H725R(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGTGGTGGTGGCTATGGCTG	0.642000														47			20		0	0	1	0	0
IL23A	51561	broad.mit.edu	37	12	56733246	56733246	+	Missense_Mutation	SNP	G	A	A	rs150940553		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56733246G>A	uc001sla.3	+	1	365	c.199G>A	c.(199-201)Gat>Aat	p.D67N		NM_016584	NP_057668	Q9NPF7	IL23A_HUMAN	Homo sapiens interleukin 23, alpha subunit p19 (IL23A), mRNA.	67					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity	p.N66S(1)		kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						GACTACAAATGATGTTCCCCA	0.493000														58			15		0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50884459	50884459	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:50884459G>A	uc001zyt.4	-	25	4255	c.3973C>T	c.(3973-3975)Ccc>Tcc	p.P1325S	TRPM7_uc010bew.2_Missense_Mutation_p.P1325S	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	1325					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTACACTGGGGATCTTTGTCA	0.378000														86			39		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004305	74004305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74004305C>T	uc010wss.1	-	21	5275	c.5047G>A	c.(5047-5049)Gac>Aac	p.D1683N	EVPL_uc002jqi.2_Missense_Mutation_p.D1661N|EVPL_uc010wst.1_Missense_Mutation_p.D1131N	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1661	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCGTGGAGGTCCCGGAGCGTC	0.672000														63			25		0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31337958	31337958	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31337958G>A	uc003aje.1	-	8	1796	c.432C>T	c.(430-432)ctC>ctT	p.L144L		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	206							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CATTATCCATGAGTTTGAGAT	0.498000														125			61		0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40946922	40946922	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:40946922G>A	uc003gvn.3	-	6	1634	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	APBB2_uc010ifu.3_5'UTR|APBB2_uc003gvl.3_Missense_Mutation_p.S334L|APBB2_uc003gvm.3_Missense_Mutation_p.S334L|APBB2_uc011byt.1_Missense_Mutation_p.S317L	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	334					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AGAACTAAGTGACCCTTTCCT	0.493000														87			20		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13692204	13692204	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13692204C>T	uc003jfd.2	-	78	13806	c.13764G>A	c.(13762-13764)aaG>aaA	p.K4588K	DNAH5_uc003jfc.2_Silent_p.K756K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4588					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)					GAACTGGCTTCTTATAGATGG	0.478000									Kartagener syndrome					73			29		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48813009	48813009	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:48813009G>A	uc001zwx.2	-	9	1389	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	332					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TATCCTGGGCGAACATCTGAG	0.517000														53			22		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69978115	69978115	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:69978115C>T	uc001opj.3	+	10	1493	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Silent_p.A368A|ANO1_uc010rqk.2_Silent_p.A131A	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	396					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CAGCCTGCGCCACGGCCCGCG	0.582000														11			8		0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358659	72358659	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72358659G>A	uc009xqg.3	-	2	979	c.818C>T	c.(817-819)tCt>tTt	p.S273F	PRF1_uc001jrf.4_Missense_Mutation_p.S273F	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	273	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCTTCGGCAGAGATGCTGCC	0.622000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					86			24		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52131211	52131211	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52131211G>A	uc002pxe.3	-	4	1012	c.873C>T	c.(871-873)acC>acT	p.T291T		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	291	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGGAGATGGGGGTGGCGTTCA	0.642000														112			43		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22453567	22453567	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22453567C>T	uc021wml.1	+	6		c.688C>T								Parts of antibodies, mostly variable regions.																		CACGGGGGCCCAGGCAGATGA	0.488000														103			32		0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817742	77817742	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77817742C>T	uc003hki.3	-	0	1261	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	421																	TGCAGCCCCTCTTCAGAAGCC	0.607000														154			9		0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9489635	9489635	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:9489635C>T	uc003brt.3	+	14	2483	c.2048C>T	c.(2047-2049)tCa>tTa	p.S683L	SETD5_uc003brs.1_Missense_Mutation_p.S664L|SETD5_uc003bru.3_Missense_Mutation_p.S585L|SETD5_uc003brv.3_Missense_Mutation_p.S572L|SETD5_uc010hck.3_Missense_Mutation_p.S165L|SETD5_uc003brx.3_Missense_Mutation_p.S352L	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	683										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACTGTGGTGTCAATTACTGGA	0.453000														20			10		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31810843	31810843	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:31810843G>A	uc001ivs.4	+	6	2643	c.2580G>A	c.(2578-2580)gtG>gtA	p.V860V	ZEB1_uc001ivr.4_Silent_p.V642V|ZEB1_uc010qef.2_Silent_p.V642V|ZEB1_uc009xlj.1_Silent_p.V786V|ZEB1_uc010qeg.1_Silent_p.V719V|ZEB1_uc009xlk.1_Silent_p.V642V|ZEB1_uc001ivu.4_Silent_p.V861V|ZEB1_uc010qeh.2_Silent_p.V793V|ZEB1_uc001ivv.4_Silent_p.V840V|ZEB1_uc001ivt.4_Silent_p.V642V|ZEB1_uc009xlo.2_Silent_p.V843V|ZEB1_uc009xlp.3_Silent_p.V844V	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	860					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CCTTGAAAGTGATCCAGCCAA	0.418000														53			23		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121693987	121693987	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:121693987C>T	uc003vjy.3	+	25	6671	c.6276C>T	c.(6274-6276)ttC>ttT	p.F2092F	PTPRZ1_uc011knt.2_Silent_p.F1232F|PTPRZ1_uc003vjz.3_Silent_p.F1225F	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	2092	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GCAATGAATTCATCATTACCC	0.413000														154			63		0	0	1	0	0
SS18	6760	broad.mit.edu	37	18	23615043	23615043	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:23615043G>A	uc002kvm.3	-	8	1100	c.1022C>T	c.(1021-1023)cCa>cTa	p.P341L	SS18_uc002kvn.3_Missense_Mutation_p.P310L|SS18_uc010xbf.2_Missense_Mutation_p.P259L|SS18_uc010xbg.2_Missense_Mutation_p.P258L|SS18_uc010xbh.2_Missense_Mutation_p.P258L|SS18_uc010xbi.2_Missense_Mutation_p.P318L|SS18_uc010dlz.1_Missense_Mutation_p.P289L	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA.	341	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TCCCTGTTGTGGAGGTGGTCC	0.473000			T	"""SSX1,  SSX2"""	synovial sarcoma									104			13		0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50826512	50826513	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50826512_50826513GG>AA	uc002pru.1	-	1	1992_1993	c.1697_1698CC>TT	c.(1696-1698)ccc>cTT	p.P566L	KCNC3_uc002prt.1_Missense_Mutation_p.P202L	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	566					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CCGGTTGCGGGGGCCGGGGGAT	0.653000														12			9		0	0	1	0	0
DHRS2	10202	broad.mit.edu	37	14	24108096	24108096	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24108096G>C	uc001wkt.4	+	1	470	c.23G>C	c.(22-24)gGc>gCc	p.G8A	DHRS2_uc010aku.1_Missense_Mutation_p.G8A|DHRS2_uc001wku.4_Missense_Mutation_p.G8A|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	0					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GTTGCCCGGGGCTACCAGGGC	0.557000														86			38		0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67803171	67803171	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:67803171C>T	uc003xwz.4	+	9	1316	c.1145C>T	c.(1144-1146)aCt>aTt	p.T382I	MCMDC2_uc011lev.2_Missense_Mutation_p.T382I|MCMDC2_uc011lew.2_Missense_Mutation_p.T313I|MCMDC2_uc011lex.2_Missense_Mutation_p.T140I|MCMDC2_uc003xwy.4_Missense_Mutation_p.T382I	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA.	382					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						ATTTTTCCCACTCTATCCAGG	0.408000														108			34		0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41508052	41508052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:41508052G>A	uc001uxs.3	-	8	1742	c.1369C>T	c.(1369-1371)Cca>Tca	p.P457S	ELF1_uc010tfc.2_Missense_Mutation_p.P433S|ELF1_uc010acd.3_Missense_Mutation_p.P350S	NM_172373	NP_758961	P32519	ELF1_HUMAN	Homo sapiens E74-like factor 1 (ets domain transcription factor) (ELF1), transcript variant 1, mRNA.	457					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CCTGCTGATGGATCTGTGCTG	0.443000														271			26		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184298852	184298852	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:184298852G>A	uc003foz.3	+	13	3068	c.2631G>A	c.(2629-2631)cgG>cgA	p.R877R		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	877	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCTGGGTGCGGGACCGGAACC	0.602000														86			28		0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98189039	98189039	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:98189039C>T	uc003dsm.3	+	0	619	c.619C>T	c.(619-621)Caa>Taa	p.Q207*		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGGTTCAGTTCAAGTCTTTAC	0.343000														148			53		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79461839	79461839	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:79461839C>T	uc003hlb.2	+	73	12040	c.11600C>T	c.(11599-11601)tCc>tTc	p.S3867F		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3862					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTTGATGATTCCCTCATCTAT	0.552000														25			8		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13663341	13663341	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:13663341G>A	uc011avc.2	+	8	2604	c.2222G>A	c.(2221-2223)gGa>gAa	p.G741E	FBLN2_uc011auz.2_Intron|FBLN2_uc011avb.2_Intron|FBLN2_uc011ava.2_Missense_Mutation_p.G741E	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	741	EGF-like 3; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AACACCCTGGGATCCTTCTAC	0.587000														42			17		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40585181	40585181	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40585181C>T	uc001zld.3	-	20	2573	c.2272G>A	c.(2272-2274)Gaa>Aaa	p.E758K	PLCB2_uc001zlc.3_5'Flank|PLCB2_uc010bbo.3_Missense_Mutation_p.E754K|PLCB2_uc010ucm.2_Missense_Mutation_p.E758K	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	758	C2.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TTGTTGCCTTCCTCCATCACA	0.562000														80			24		0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139416468	139416468	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:139416468G>A	uc003vvf.4	-	1	637	c.366C>T	c.(364-366)ctC>ctT	p.L122L	HIPK2_uc003vvd.4_Silent_p.L122L	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	122	Transcriptional corepression (By similarity).				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AGGTATCAAGGAGGCTCACAG	0.552000														26			12		0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327124	52327124	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52327124C>T	uc002pxt.1	+	1	307	c.123C>T	c.(121-123)gtC>gtT	p.V41V	FPR3_uc021uyq.1_Silent_p.V41V	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	41					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TCTTCGGGGTCCTGGGCAATG	0.547000														77			27		0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26273425	26273425	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:26273425G>A	uc001uqk.3	+	24	2468	c.2326G>A	c.(2326-2328)Gaa>Aaa	p.E776K	ATP8A2_uc010tdi.2_Missense_Mutation_p.E736K|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.E326K	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	736					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCTCTCCTTCGAAGTCCGGAG	0.542000														46			8		0	0	1	0	0
CHEK1	1111	broad.mit.edu	37	11	125513759	125513759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:125513759C>T	uc009zbo.3	+	8	1784	c.887C>T	c.(886-888)tCc>tTc	p.S296F	CHEK1_uc010sbi.2_Missense_Mutation_p.S296F|CHEK1_uc010sbh.2_Missense_Mutation_p.S312F|CHEK1_uc001qcf.4_Missense_Mutation_p.S296F|CHEK1_uc009zbp.3_Missense_Mutation_p.S296F|CHEK1_uc001qcg.4_Missense_Mutation_p.S296F	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.	296					DNA repair|DNA replication|cellular response to mechanical stimulus|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		CACATTCAATCCAATTTGGAC	0.383000								Other conserved DNA damage response genes						54			17		0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978476	10978476	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10978476G>A	uc001qyy.1	-	0	393	c.393C>T	c.(391-393)ttC>ttT	p.F131F		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	131					sensory perception of taste	integral to membrane	taste receptor activity	p.P130L(1)		breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATACTATCATGAAGGGAAGAA	0.348000														45			22		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113953812	113953812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113953812G>A	uc002tjc.3	+	11	2497	c.2314G>A	c.(2314-2316)Gat>Aat	p.D772N	PSD4_uc002tjd.3_Missense_Mutation_p.D393N|PSD4_uc002tje.3_Missense_Mutation_p.D743N|PSD4_uc002tjf.3_Missense_Mutation_p.D393N|PSD4_uc002tjg.3_5'Flank|PSD4_uc010yxs.2_5'Flank|PSD4_uc002tjh.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	772					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGGCTCAGGATCCCACAGT	0.567000														45			16		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316036	30316036	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:30316036G>A	uc009xle.2	-	2	3178	c.3041C>T	c.(3040-3042)cCa>cTa	p.P1014L	KIAA1462_uc001iux.3_Missense_Mutation_p.P1014L|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.P876L	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1014										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CGCTTCACTTGGTTTCACAGA	0.567000														119			58		0	0	1	0	0
OBP2A	29991	broad.mit.edu	37	9	138438674	138438674	+	Silent	SNP	G	A	A	rs142617413	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:138438674G>A	uc004cgc.3	+	1	165	c.123G>A	c.(121-123)ccG>ccA	p.P41P	OBP2A_uc004cgb.3_Silent_p.P41P|OBP2A_uc010nau.3_Non-coding_Transcript|OBP2A_uc010nav.3_Intron			Q9NY56	OBP2A_HUMAN	Homo sapiens odorant binding protein 2A (OBP2A), mRNA.	41					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		AGGACTTTCCGGAGGACAGGA	0.602000														19			9		0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42145908	42145908	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:42145908C>T	uc003gwn.3	-	2	1171	c.591G>A	c.(589-591)atG>atA	p.M197I	BEND4_uc003gwm.3_Missense_Mutation_p.M197I|BEND4_uc011byy.1_Missense_Mutation_p.M197I	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	197										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CGCAAGAAATCATGGACTGAG	0.478000														17			6		0	0	1	0	0
SPRY1	10252	broad.mit.edu	37	4	124322981	124322981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:124322981G>A	uc003ifa.3	+	1	422	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	SPRY1_uc003ifb.3_Missense_Mutation_p.E79K|SPRY1_uc021xro.1_Missense_Mutation_p.E79K	NM_199327	NP_955359	O43609	SPY1_HUMAN	Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA.	79					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AAGGACTCATGAAATCATACC	0.478000														96			37		0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18668094	18668094	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:18668094C>T	uc002gul.3	+	6	1792	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	FBXW10_uc002guj.3_Silent_p.F491F|FBXW10_uc002guk.3_Silent_p.F491F|FBXW10_uc010cqh.2_Silent_p.F491F	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	491										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CACGAATCTTCGGTGGTCACC	0.493000														32			27		0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69171531	69171531	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:69171531C>T	uc003dns.2	-	0	216	c.7G>A	c.(7-9)Gag>Aag	p.E3K	LMOD3_uc003dnt.2_Missense_Mutation_p.E3K	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.	3						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CTGCTGTGCTCTGACATTATT	0.333000														21			11		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76440770	76440770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76440770G>A	uc010dhp.2	-	70	11569	c.11444C>T	c.(11443-11445)cCc>cTc	p.P3815L	DNAH17_uc002jvq.3_Missense_Mutation_p.P100L|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.P3810L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCACTCCTTGGGGAAGATCTC	0.567000														31			9		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181726163	181726163	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181726163C>T	uc009wxt.3	+	29	4425	c.4230C>T	c.(4228-4230)ttC>ttT	p.F1410F	CACNA1E_uc001gow.3_Silent_p.F1410F|CACNA1E_uc009wxs.3_Silent_p.F1391F|CACNA1E_uc001gox.1_Silent_p.F636F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1410					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						TTGTGGTCTTCCCCTTCTTCT	0.488000														94			46		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581370	7581370	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7581370G>A	uc003mxp.1	+	22	5226	c.4947G>A	c.(4945-4947)agG>agA	p.R1649R	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1649	Central fibrous rod domain.				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)		AAAAGCAGAGGACCCAGGAAG	0.572000														73			35		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884217	228884217	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228884217G>A	uc002vpq.2	-	6	1400	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	SPHKAP_uc002vpp.2_Silent_p.V451V|SPHKAP_uc010zlx.1_Silent_p.V451V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	451						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGAACAACGACGATTTTGG	0.507000														78			27		0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169049298	169049298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169049298G>A	uc003irm.3	+	1	246	c.82G>A	c.(82-84)Gga>Aga	p.G28R		NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	28							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AATGCTAGGAGGAGCACTCCA	0.368000														54			5		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390319	197390319	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197390319G>A	uc001gtz.3	+	5	1570	c.1361G>A	c.(1360-1362)gGa>gAa	p.G454E	CRB1_uc010poz.2_Missense_Mutation_p.G385E|CRB1_uc009wza.3_Missense_Mutation_p.G342E|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.G454E|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.G103E	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	454	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTAAATAATGGAACATGCATC	0.468000														102			37		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10555862	10555862	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10555862C>T	uc002gmq.2	-	3	311	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	75	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TACACATCCTCTGGTTTGACC	0.463000														51			34		0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11658696	11658696	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11658696G>A	uc002msc.1	+	4	639	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	CNN1_uc010xmb.1_Missense_Mutation_p.E109K|CNN1_uc010xmc.1_Missense_Mutation_p.E109K	NM_001299	NP_001290	P51911	CNN1_HUMAN	Homo sapiens calponin 1, basic, smooth muscle (CNN1), mRNA.	159					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GAAGCTAAGAGAAGGGCGGAA	0.582000														27			20		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45459065	45459065	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:45459065C>T	uc001rol.3	-	0		c.130G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TCGTTTCCTTCCTTGAGAATC	0.468000														27			14		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62286062	62286063	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62286062_62286063GG>AA	uc001ntl.3	-	4	16126_16127	c.15826_15827CC>TT	c.(15826-15828)ccc>TTc	p.P5276F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5276					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGAAACATCGGGCCCTTCGAGC	0.535000														69			20		0	0	1	0	0
HOXA9	3205	broad.mit.edu	37	7	27204563	27204563	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:27204563C>T	uc003syt.3	-	0	587	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	HOXA9_uc022aar.1_Non-coding_Transcript	NM_152739	NP_689952	P31269	HXA9_HUMAN	Homo sapiens homeobox A9 (HOXA9), mRNA.	172							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						AAGGCGCCTTCGCTGGGTTGT	0.552000			T	"""NUP98, MSI2"""	AML*									57			18		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117996324	117996324	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117996324G>A	uc001two.2	-	7	1348	c.1293C>T	c.(1291-1293)atC>atT	p.I431I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	460					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCGGTGGATGATCAGAAGAT	0.507000														61			9		0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96555182	96555182	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:96555182G>A	uc001vmt.3	-	20	2598	c.2428C>T	c.(2428-2430)Ctt>Ttt	p.L810F		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	810					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AGTTGCCCAAGAAAGCTTCTC	0.318000														124			13		0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79748963	79748963	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:79748963C>T	uc002bew.1	+	1	549	c.474C>T	c.(472-474)tgC>tgT	p.C158C	KIAA1024_uc010unk.1_Silent_p.C158C	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	158						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CGTCCAAGTGCCGGAAGATGG	0.567000														71			21		0	0	1	0	0
SLC30A1	7779	broad.mit.edu	37	1	211749497	211749497	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:211749497G>A	uc001hio.1	-	1	902	c.757C>T	c.(757-759)Ctt>Ttt	p.L253F		NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 1 (SLC30A1), mRNA.	253					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	T-tubule|integral to membrane	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		GCATCTCCAAGGACATGCAGA	0.413000														77			25		0	0	1	0	0
MAP2K5	5607	broad.mit.edu	37	15	67995676	67995676	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:67995676C>T	uc002aqu.3	+	16	1626	c.973_splice	c.e16-1	p.P325_splice	MAP2K5_uc002aqv.3_Splice_Site_p.P325_splice|MAP2K5_uc010ujw.2_Splice_Site_p.P289_splice|MAP2K5_uc002aqx.3_Splice_Site_p.P135_splice	NM_145160	NP_660143	Q13163	MP2K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 5 (MAP2K5), transcript variant 1, mRNA.	325	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TTCTTGCAGCCTGAAAGGATT	0.463000														85			35		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187953	140187953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140187953C>T	uc003lhi.2	+	0	1282	c.1181C>T	c.(1180-1182)cCc>cTc	p.P394L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.P394L|PCDHAC2_uc011daa.2_Missense_Mutation_p.P394L	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	409	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)			TCCCACGTCCCCTTCAAGCTG	0.592000														173			19		0	0	1	0	0
GRINA	2907	broad.mit.edu	37	8	145065532	145065532	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145065532C>T	uc003zan.1	+	1	307	c.141C>T	c.(139-141)ttC>ttT	p.F47F	GRINA_uc003zao.1_Silent_p.F47F|GRINA_uc003zap.1_Silent_p.F47F	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	47	Pro-rich.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCCCCCTTTCCAGCCCTCCC	0.706000														19			3		0	0	1	0	0
STARD4	134429	broad.mit.edu	37	5	110835662	110835662	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:110835662C>T	uc003kph.1	-	5	624	c.540G>A	c.(538-540)atG>atA	p.M180I	STARD4_uc010jbw.1_Missense_Mutation_p.M82I|STARD4_uc010jbx.1_Missense_Mutation_p.M82I|STARD4_uc003kpi.1_Non-coding_Transcript	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.	180	START.				lipid transport		lipid binding	p.G179G(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		ACTGAGGAATCATCCCACGCA	0.413000														97			50		0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241494457	241494457	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241494457G>A	uc010fzd.1	-	2	287	c.162C>T	c.(160-162)gcC>gcT	p.A54A	ANKMY1_uc002vzb.1_Silent_p.A54A|ANKMY1_uc002vzc.1_Silent_p.A54A|ANKMY1_uc002vyz.1_5'UTR|ANKMY1_uc002vza.1_Silent_p.A54A|ANKMY1_uc002vzd.1_Silent_p.A54A|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_5'UTR|ANKMY1_uc002vzf.3_5'UTR	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	0							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CCTTCTCAGGGGCTGCTGAAA	0.602000														77			56		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237405806	237405806	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:237405806G>A	uc002vwb.2	-	2	391	c.357_splice	c.e2+1	p.P119_splice	IQCA1_uc002vvz.1_Splice_Site_p.P112_splice|IQCA1_uc002vwa.1_Splice_Site|IQCA1_uc010zni.1_Splice_Site_p.P112_splice	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	112							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GAGTGCTTACGGGGGCCAGCT	0.448000														7			10		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516156	140516156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140516156G>A	uc003liq.3	+	0	1357	c.1140G>A	c.(1138-1140)atG>atA	p.M380I		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	380	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGTAGGATGATTTGCTCCA	0.488000														78			32		0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834443	61834443	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61834443G>A	uc002yeh.3	-	3	1143	c.849C>T	c.(847-849)gcC>gcT	p.A283A	YTHDF1_uc011aaq.2_Silent_p.A233A	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	283	Gln/Pro-rich.			AP -> PH (in Ref. 5; CAD39029).						NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GGGGGACTGGGGCCTTCGGCA	0.652000														100			36		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129338	83129338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:83129338C>T	uc004eei.1	+	3	1643	c.1622C>T	c.(1621-1623)tCa>tTa	p.S541L	CYLC1_uc004eeh.1_Missense_Mutation_p.S540L	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	541	8 X approximate tandem repeats.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATCAAAGGTTCAGATACTGAA	0.373000														13			20		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554523	20554523	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20554523C>T	uc002dhj.4	-	11	1553	c.1343G>A	c.(1342-1344)gGa>gAa	p.G448E	ACSM2B_uc002dhk.4_Missense_Mutation_p.G448E|ACSM2B_uc010bwf.1_Missense_Mutation_p.G448E	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	448					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.R447R(1)|p.R447W(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATCTTTGATTCCCCGGTCTCC	0.488000														309			15		0	0	1	0	0
SCGN	10590	broad.mit.edu	37	6	25701497	25701497	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:25701497G>A	uc003nfb.3	+	10	968	c.765G>A	c.(763-765)gtG>gtA	p.V255V	SCGN_uc010jpz.3_Silent_p.V146V	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	255	EF-hand 6.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACTGCGACGTGAACAAGGATG	0.488000														94			27		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247920864	247920864	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247920864G>A	uc010pza.2	-	0	845	c.845C>T	c.(844-846)gCt>gTt	p.A282V		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A282P(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAGCATCGGAGCCACCATTGA	0.473000														113			61		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167164253	167164253	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:167164253C>T	uc003fes.1	-	7	1169	c.1098G>A	c.(1096-1098)gtG>gtA	p.V366V	SERPINI2_uc003fer.1_Silent_p.V356V|SERPINI2_uc003fet.1_Silent_p.V356V	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	356					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GACTCATGATCACAGGGATGT	0.318000														106			24		0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55065577	55065578	+	RNA	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55065577_55065578CC>TT	uc021qjb.1	-	0		c.131_132GG>AA			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		CATGTTGTCTCCTTGCATTTAG	0.490000														30			13		0	0	1	0	0
NPEPPS	9520	broad.mit.edu	37	17	45664637	45664637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:45664637C>T	uc002ilr.4	+	8	1245	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	NPEPPS_uc010wkt.2_Missense_Mutation_p.S337L|NPEPPS_uc010wku.2_Missense_Mutation_p.S305L|NPEPPS_uc010wkv.2_5'UTR	NM_006310	NP_006301	P55786	PSA_HUMAN	Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA.	341					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TCCTGTTCTTCATCCCGCCAG	0.353000														13			3		0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74357718	74357718	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:74357718G>A	uc003hhb.3	+	7	1004	c.973G>A	c.(973-975)Gat>Aat	p.D325N		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	325	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAGACCAAAGGATTTATCTCT	0.378000														92			36		0	0	1	0	0
HEXIM2	124790	broad.mit.edu	37	17	43246863	43246863	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:43246863G>A	uc002iik.1	-	1		c.1357C>T			HEXIM2_uc002iih.1_Missense_Mutation_p.R183Q|HEXIM2_uc010daf.1_Missense_Mutation_p.R205Q|HEXIM2_uc002iii.1_Missense_Mutation_p.R183Q|HEXIM2_uc002iij.1_Missense_Mutation_p.R183Q			Q96MH2	HEXI2_HUMAN	Homo sapiens cDNA FLJ39466 fis, clone PROST2012353.						negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						GGGCGGGGCCGAGCGCACGGT	0.652000														9			9		0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155234488	155234488	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155234488G>A	uc001fjy.3	-	8	1301	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	SCAMP3_uc001fjs.3_5'Flank|SCAMP3_uc001fjt.3_5'Flank|CLK2_uc001fjw.3_Silent_p.H336H|CLK2_uc001fjx.3_Silent_p.H109H|CLK2_uc009wqm.3_Silent_p.H337H	NM_003993	NP_003984	P49760	CLK2_HUMAN	Homo sapiens CDC-like kinase 2 (CLK2), mRNA.	337	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E336K(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTGCTATGGTGCTCATGGT	0.547000								Other conserved DNA damage response genes						73			28		0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210577852	210577852	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:210577852C>T	uc010psr.2	+	4	621	c.516C>T	c.(514-516)ttC>ttT	p.F172F	HHAT_uc009xcx.3_Silent_p.F171F|HHAT_uc010psq.2_Intron|HHAT_uc009xcy.3_Silent_p.F106F|HHAT_uc010pss.2_Silent_p.F126F|HHAT_uc010pst.2_Silent_p.F108F|HHAT_uc001hhz.4_Silent_p.F171F|HHAT_uc021pip.1_Silent_p.F171F|HHAT_uc010psu.2_Silent_p.F106F	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	171					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGCTGCAGTTCACGCTGACCG	0.542000														46			28		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111096	81111096	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81111096G>A	uc001szg.2	+	0	389	c.254G>A	c.(253-255)cGg>cAg	p.R85Q		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	85					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.R85W(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ATGGATCGGCGGAAGGCAGCC	0.627000														32			15		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51382068	51382068	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:51382068G>A	uc001wyu.3	-	10	1516	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	PYGL_uc010tqq.2_Silent_p.I429I	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	463					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	p.I463I(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TAGTCTTCACGATGTCTGAGT	0.473000														200			17		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103191703	103191703	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:103191703G>A	uc022ajr.1	-	40	6273	c.6113C>T	c.(6112-6114)cCa>cTa	p.P2038L	RELN_uc022ajq.1_Missense_Mutation_p.P2038L|RELN_uc010liz.3_Missense_Mutation_p.P2038L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2038					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)		CAGTCTCACTGGATCCGCGGA	0.502000														48			18		0	0	1	0	0
C5orf58	133874	broad.mit.edu	37	5	169662054	169662054	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:169662054C>T	uc010jjn.3	+	2	220	c.137C>T	c.(136-138)tCg>tTg	p.S46L	C5orf58_uc003mal.2_Non-coding_Transcript	NM_001102609	NP_001096079	C9J3I9	CE058_HUMAN	Homo sapiens chromosome 5 open reading frame 58 (C5orf58), mRNA.	46										large_intestine(1)|lung(4)|urinary_tract(1)	6						ACAATTTCTTCGGAGTTGAAG	0.303000														11			4		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027304	37027304	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:37027304C>T	uc004ddl.2	+	0	873	c.821C>T	c.(820-822)cCt>cTt	p.P274L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	274										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TACCTGGAGCCTCCTGGGACT	0.607000														16			47		0	0	1	0	0
AGK	55750	broad.mit.edu	37	7	141336797	141336797	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141336797C>T	uc003vwi.2	+	10	877	c.706C>T	c.(706-708)Cac>Tac	p.H236Y	AGK_uc011krg.1_Non-coding_Transcript	NM_018238	NP_060708	Q53H12	AGK_HUMAN	Homo sapiens acylglycerol kinase (AGK), nuclear gene encoding mitochondrial protein, mRNA.	236					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	ATP binding|NAD+ kinase activity|acylglycerol kinase activity|diacylglycerol kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CAAAGCAGCCCACTTTTTCAG	0.313000														50			10		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10209890	10209890	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10209890C>T	uc002gmk.1	-	36	5442	c.5352G>A	c.(5350-5352)gaG>gaA	p.E1784E		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1784					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTTCATCCGCTCCAGGTGGG	0.577000														64			50		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7696348	7696348	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7696348G>A	uc002giu.1	+	46	7408	c.7394G>A	c.(7393-7395)cGa>cAa	p.R2465Q		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2465	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTTGAGAAGCGAACCAAGGGT	0.512000														56			36		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126676290	126676290	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:126676290C>A	uc003kuh.4	+	4	649	c.287C>A	c.(286-288)cCt>cAt	p.P96H	MEGF10_uc010jdc.1_Missense_Mutation_p.P96H|MEGF10_uc010jdd.1_Missense_Mutation_p.P96H|MEGF10_uc003kui.4_Missense_Mutation_p.P96H	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	96	EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CAGTGTTGTCCTGGATTTTAT	0.428000														73			36		1.57019e-19	1.57887e-19	1	1	0
CEACAM20	125931	broad.mit.edu	37	19	45015121	45015121	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45015121G>A	uc010ejn.1	-	11	1720	c.1704C>T	c.(1702-1704)tcC>tcT	p.S568S	CEACAM20_uc010ejo.1_Silent_p.S556S|CEACAM20_uc010ejp.1_Silent_p.S475S|CEACAM20_uc010ejq.1_Silent_p.S463S	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	568						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TTGGCACAGTGGAGACCAATC	0.493000														41			15		0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27571983	27571983	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:27571983C>T	uc001zbg.2	+	3	552	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	GABRG3_uc001zbf.3_Nonsense_Mutation_p.Q100*	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	100					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.A99S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ATTTTTTGCTCAGACCTGGAC	0.388000														92			46		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124757009	124757009	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124757009G>A	uc001qbg.3	-	14	2439	c.2299C>T	c.(2299-2301)Ctc>Ttc	p.L767F	ROBO4_uc010sas.2_Missense_Mutation_p.L622F|ROBO4_uc001qbh.2_Missense_Mutation_p.L657F|ROBO4_uc001qbi.3_Missense_Mutation_p.L325F	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	767	Pro/Ser-rich.				angiogenesis|cell differentiation	integral to membrane	receptor activity	p.S766S(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGGCCAGAGAGGGAAGAGGCC	0.672000														47			11		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10222127	10222127	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10222127C>T	uc002gmk.1	-	26	3808	c.3718G>A	c.(3718-3720)Gag>Aag	p.E1240K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1240					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.E1240K(3)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GAGAGAGCCTCGATGTTGCTG	0.567000														46			44		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19194885	19194885	+	Missense_Mutation	SNP	G	A	A	rs149672382		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19194885G>A	uc002dfw.3	+	4	698	c.367G>A	c.(367-369)Gat>Aat	p.D123N	SYT17_uc002dfx.3_Missense_Mutation_p.D62N|SYT17_uc002dfy.3_Missense_Mutation_p.D119N	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	123						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TCCACTCATCGATATTAAACC	0.527000														130			15		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475911	140475911	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140475911G>A	uc003lil.3	+	0	1675	c.1537G>A	c.(1537-1539)Ggc>Agc	p.G513S	PCDHB2_uc003lim.1_Missense_Mutation_p.G174S	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	513	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCGGACAACGGCCACCTGTT	0.701000														171			58		0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131515789	131515789	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131515789A>G	uc004bwa.1	-	3	833	c.400T>C	c.(400-402)Ttg>Ctg	p.L134L		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	Homo sapiens zer-1 homolog (C. elegans) (ZER1), mRNA.	134					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						AAGAGGCTCAAGGACACCAGG	0.567000														46			8		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333310	70333310	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70333310G>A	uc001oqc.3	-	20	3002	c.2890C>T	c.(2890-2892)Cct>Tct	p.P964S	SHANK2_uc010rqn.2_Missense_Mutation_p.P440S|SHANK2_uc001opz.3_Missense_Mutation_p.P435S|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	651					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTCGGGATAGGGATGGAGCAC	0.662000														125			51		0	0	1	0	0
HLF	3131	broad.mit.edu	37	17	53342917	53342917	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:53342917C>T	uc002iug.1	+	0	597	c.72C>T	c.(70-72)tcC>tcT	p.S24S	HLF_uc010dce.1_5'Flank|HLF_uc002iuh.2_5'Flank|HLF_uc010wni.1_5'Flank	NM_002126	NP_002117	Q16534	HLF_HUMAN	Homo sapiens hepatic leukemia factor (HLF), mRNA.	24					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						TGCTCAGGTCCCTGCTGGAGA	0.642000			T	TCF3	ALL									30			4		0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5961342	5961342	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:5961342G>A	uc003git.2	-	6		c.1889C>T						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TGGACACCAAGGACAGAGGGA	0.527000														33			8		0	0	1	0	0
CERS1	10715	broad.mit.edu	37	19	19004363	19004363	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19004363G>A	uc002nki.1	-	1	343	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F	CERS1_uc002nkj.3_Missense_Mutation_p.L91F|CERS1_uc010ebx.3_5'UTR	NM_021267	NP_067090	P27544	CERS1_HUMAN	Homo sapiens ceramide synthase 1 (CERS1), transcript variant 1, mRNA.	91					ceramide biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity			endometrium(3)|lung(2)	5						CTGGGCTGGAGGCAGCACCGC	0.632000														10			5		0	0	1	0	0
TMEM120B	144404	broad.mit.edu	37	12	122209422	122209422	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:122209422C>T	uc001ubc.4	+	7	790	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	TMEM120B_uc009zxh.3_Missense_Mutation_p.R216C	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	Homo sapiens transmembrane protein 120B (TMEM120B), mRNA.	216						integral to membrane		p.R216C(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TCAGAAGTTTCGCAACCAGTT	0.488000														88			29		0	0	1	0	0
C2CD4A	145741	broad.mit.edu	37	15	62359880	62359880	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:62359880C>T	uc002ahf.4	+	1	209	c.68C>T	c.(67-69)cCg>cTg	p.P23L	C2CD4A_uc021snl.1_Missense_Mutation_p.P23L	NM_207322	NP_997205	Q8NCU7	C2C4A_HUMAN	Homo sapiens C2 calcium-dependent domain containing 4A (C2CD4A), mRNA.	23						nucleus											TGGCTTCTCCCGGGTCGGGCC	0.667000														25			22		0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57828873	57828873	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57828873C>T	uc001snv.1	+	0	331	c.204C>T	c.(202-204)tcC>tcT	p.S68S		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	68					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GCCCTGTGTCCAGAGCTGCTT	0.572000														69			11		0	0	1	0	0
ABCD1	215	broad.mit.edu	37	X	152991603	152991603	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:152991603C>T	uc004fif.2	+	0	1281	c.882C>T	c.(880-882)gcC>gcT	p.A294A	BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.	294	ABC transmembrane type-1.		A -> T (in X-ALD; AMN-type).		fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGATCGCCTTCTATGGGG	0.706000														1			2		0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33495271	33495271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:33495271C>T	uc002hja.3	+	9	1440	c.1343C>T	c.(1342-1344)gCc>gTc	p.A448V	UNC45B_uc002hjb.3_Missense_Mutation_p.A448V|UNC45B_uc002hjc.3_Missense_Mutation_p.A448V|UNC45B_uc010cto.3_Missense_Mutation_p.A448V	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	448					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CTCATCCATGCCTCCACGAAG	0.557000														18			22		0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201351789	201351789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201351789C>T	uc001gwm.3	-	7	1700	c.1465G>A	c.(1465-1467)Gac>Aac	p.D489N		NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	489						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						ACCTGGGGGTCCTGATCTCCA	0.542000														13			9		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537901	55537901	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55537901G>A	uc003xsd.1	+	3	1607	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	487					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.S486I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCATATAGTGAAGAAAGGGA	0.363000														67			28		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66067164	66067164	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:66067164C>T	uc001dci.3	+	8	1473	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S	LEPR_uc001dcg.3_Missense_Mutation_p.P362S|LEPR_uc001dch.3_Missense_Mutation_p.P362S|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.P362S|LEPR_uc001dcj.3_Missense_Mutation_p.P362S|LEPR_uc001dck.3_Missense_Mutation_p.P362S	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	362	Ig-like.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAAGATTGTTCCCTCAAAAGA	0.348000														79			10		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255362	51255362	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:51255362G>A	uc021vhh.1	-	0	971	c.50C>T	c.(49-51)tCg>tTg	p.S17L	NRXN1_uc021vhg.1_Missense_Mutation_p.S17L|NRXN1_uc021vhi.1_Missense_Mutation_p.S17L|NRXN1_uc021vhj.1_Missense_Mutation_p.S17L|NRXN1_uc021vhk.1_Missense_Mutation_p.S17L	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	17					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAGCAGCAGCGAGAGGCACAG	0.716000														8			3		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3511995	3511995	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3511995C>T	uc001akl.3	-	2	510	c.283G>A	c.(283-285)Ggc>Agc	p.G95S		NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	95	EMI.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TGCCTGTAGCCCATGTAGTAG	0.612000														77			8		0	0	1	0	0
AZGP1P1	646282	broad.mit.edu	37	7	99580912	99580912	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99580912G>A	uc003usi.2	+	1	233	c.222G>A	c.(220-222)tgG>tgA	p.W74*	AZGP1P1_uc022aie.1_Nonsense_Mutation_p.W74*					Homo sapiens alpha-2-glycoprotein 1, zinc-binding pseudogene 1 (AZGP1P1), non-coding RNA.																		TGGGACCATGGAGACATGCGG	0.542000														24			15		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86591475	86591475	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:86591475C>T	uc001dlj.3	-	2	619	c.544G>A	c.(544-546)Gga>Aga	p.G182R	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.G182R	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	182	Laminin G-like.|TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TATTTCTTTCCACACTCAACA	0.343000														36			6		0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55184358	55184358	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:55184358C>T	uc010wnl.2	+	2	1815	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	AKAP1_uc002iux.3_Silent_p.F511F|AKAP1_uc021uak.1_Silent_p.F511F|AKAP1_uc010dcm.3_Silent_p.F511F|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	511					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CAGATTCTTTCAGCACTTCAG	0.567000														185			68		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736281	12736281	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:12736281G>A	uc004cuz.2	+	15	3842	c.3336G>A	c.(3334-3336)ggG>ggA	p.G1112G	FRMPD4_uc011mij.2_Silent_p.G1104G	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1112					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						CAGCAACAGGGAAAACCTTTC	0.507000														40			72		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603011	138603011	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:138603011G>A	uc011kql.2	-	1	1410	c.1361C>T	c.(1360-1362)aCc>aTc	p.T454I	KIAA1549_uc011kqj.2_Missense_Mutation_p.T454I	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	454						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTCCAGCACGGTCATGCACAG	0.522000			O	BRAF	pilocytic astrocytoma									58			26		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140769170	140769170	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140769170C>T	uc003lkc.2	+	0	1719	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	576	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F573F(1)		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)			CTGCGCTCTTCGATATGGTGC	0.647000														57			5		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29012450	29012450	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29012450C>T	uc001usb.3	-	3	706	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	FLT1_uc010aar.1_Missense_Mutation_p.E141K|FLT1_uc001usc.3_Missense_Mutation_p.E141K|FLT1_uc010tdp.1_Missense_Mutation_p.E141K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	141					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TCGGGGATTTCACTGTACATC	0.373000														42			15		0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95552654	95552654	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95552654G>A	uc001kjc.4	+	5	994	c.658G>A	c.(658-660)Gat>Aat	p.D220N	LGI1_uc021pwk.1_Missense_Mutation_p.D220N|LGI1_uc010qnv.2_Missense_Mutation_p.D172N|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	220	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GAAGGATTTTGATTGCATCAT	0.388000														99			42		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65789296	65789296	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65789296G>A	uc001ogt.3	-	2	1622	c.1484C>T	c.(1483-1485)gCc>gTc	p.A495V		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	495					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTTGAGCAGGGCTTCCACCAC	0.572000														103			14		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	122075625	122075625	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:122075625C>T	uc004bkc.2	-	1	465	c.9G>A	c.(7-9)tgG>tgA	p.W3*	DBC1_uc004bkd.2_Nonsense_Mutation_p.W3*	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	3					cell cycle arrest|cell death	cytoplasm	protein binding			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						CAACAAACCTCCAGTTCATGC	0.463000														41			10		0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169940013	169940013	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169940013C>T	uc010zdc.2	+	2	780	c.668C>T	c.(667-669)tCc>tTc	p.S223F	DHRS9_uc002uep.3_Missense_Mutation_p.S163F|DHRS9_uc002ueq.3_Missense_Mutation_p.S163F|DHRS9_uc010zdd.2_Missense_Mutation_p.S163F|DHRS9_uc010zde.2_Missense_Mutation_p.S163F	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	163					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ATTAATGTCTCCAGTGTTGGA	0.418000														90			31		0	0	1	0	0
WIPF1	7456	broad.mit.edu	37	2	175436545	175436545	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:175436545C>T	uc002uiz.3	-	4	1088	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.E330K|WIPF1_uc010fqt.1_Missense_Mutation_p.E330K|WIPF1_uc002ujc.1_Missense_Mutation_p.E330K|WIPF1_uc002ujb.2_Missense_Mutation_p.E330K|WIPF1_uc010zep.1_Missense_Mutation_p.E330K	NM_003387	NP_003378	O43516	WIPF1_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.	330	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.D329D(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CTTGGGGTTTCGTCATTGCCG	0.677000														58			5		0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80374441	80374441	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:80374441G>A	uc011kgw.2	-	17	2158	c.2079C>T	c.(2077-2079)tcC>tcT	p.S693S	SEMA3C_uc003uhj.3_Silent_p.S675S	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	675					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGGTCCATGGGGACCATTTGT	0.463000														75			36		0	0	1	0	0
TBCB	1155	broad.mit.edu	37	19	36616633	36616633	+	Silent	SNP	C	T	T	rs146159771		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36616633C>T	uc002odg.1	+	5	1259	c.684C>T	c.(682-684)gtC>gtT	p.V228V		NM_001281	NP_001272	Q99426	TBCB_HUMAN	Homo sapiens tubulin folding cofactor B (TBCB), mRNA.	228					'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCCAGCAGTCGTGACGGTGG	0.572000														224			97		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20620576	20620576	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:20620576T>C	uc003gpr.1	+	36	4738	c.4534T>C	c.(4534-4536)Ttt>Ctt	p.F1512L	SLIT2_uc003gps.1_Missense_Mutation_p.F1504L	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1512	CTCK.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGGCTCCTCCTTTGTGGACGA	0.547000														32			22		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62125259	62125259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62125259G>A	uc002jdz.2	-	18	2601	c.2488C>T	c.(2488-2490)Ccg>Tcg	p.P830S		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	830	Protein kinase.		P -> L (in an ovarian serous carcinoma sample; somatic mutation).		activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.P830L(1)		central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CAGAAGAACGGGTGTTTGAGC	0.438000														50			17		0	0	1	0	0
ALDH1A3	220	broad.mit.edu	37	15	101434167	101434167	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:101434167C>T	uc002bwn.4	+	5	650	c.546C>T	c.(544-546)ttC>ttT	p.F182F	ALDH1A3_uc010bpb.3_Intron|BC073817_uc002bwo.1_Non-coding_Transcript	NM_000693	NP_000684	P47895	AL1A3_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A3 (ALDH1A3), mRNA.	182					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	AGTGGAACTTCCCCCTGCTGA	0.597000														188			32		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15815444	15815444	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:15815444C>T	uc002ddx.3	-	32	4541	c.4434G>A	c.(4432-4434)agG>agA	p.R1478R	MYH11_uc002ddv.3_Silent_p.R1478R|MYH11_uc002ddw.3_Silent_p.R1471R|MYH11_uc002ddy.3_Silent_p.R1471R|MYH11_uc010bvg.3_Silent_p.R1303R|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Silent_p.R177R|NDE1_uc002ddz.1_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1471					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CAGCTCTGTCCCTCTCATCCG	0.557000			T	CBFB	AML									70			12		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37262241	37262241	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:37262241C>T	uc022abv.1	-	9	1469	c.759G>A	c.(757-759)aaG>aaA	p.K253K	ELMO1_uc011kbc.2_Silent_p.K157K|ELMO1_uc003tfk.2_Silent_p.K253K|ELMO1_uc010kxg.2_Silent_p.K253K	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	253					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CATCAGGAGCCTTCAGGAAAA	0.418000														82			30		0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89521887	89521887	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:89521887C>T	uc001dmx.2	-	7	1400	c.1180G>A	c.(1180-1182)Gac>Aac	p.D394N		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	394					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TTACAAAAGTCATCCCGCTTT	0.393000														140			45		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41515243	41515243	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41515243C>T	uc002opr.1	+	4	772	c.765C>T	c.(763-765)acC>acT	p.T255T	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	255					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ACCGTGAAACCCTGGACCCCA	0.542000														93			42		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188055	140188055	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140188055G>A	uc003lhi.2	+	0	1384	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.R428Q|PCDHAC2_uc011daa.2_Missense_Mutation_p.R428Q	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	442	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)			GTGACCGCGCGAGACGGGGGC	0.617000														154			45		0	0	1	0	0
HOXB9	3219	broad.mit.edu	37	17	46700315	46700315	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:46700315G>A	uc002inx.3	-	1	904	c.700C>T	c.(700-702)Cag>Tag	p.Q234*		NM_024017	NP_076922	P17482	HXB9_HUMAN	Homo sapiens homeobox B9 (HOXB9), mRNA.	234					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						CGCCGGTTCTGAAACCAGATT	0.463000														93			8		0	0	1	0	0
NSDHL	50814	broad.mit.edu	37	X	152034497	152034497	+	Silent	SNP	C	T	T	rs147293409	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:152034497C>T	uc004fgt.1	+	6	939	c.678C>T	c.(676-678)ttC>ttT	p.F226F	NSDHL_uc004fgs.1_Silent_p.F226F	NM_001129765	NP_057006	Q15738	NSDHL_HUMAN	Homo sapiens NAD(P) dependent steroid dehydrogenase-like (NSDHL), transcript variant 2, mRNA.	226					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|binding|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	p.F226F(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	AGATGAAGTTCGTGATTGGGT	0.572000														38			47		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21355829	21355829	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:21355829C>T	uc002kuq.3	+	9	1433	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	LAMA3_uc010dlv.2_Silent_p.F449F|LAMA3_uc002kur.3_Silent_p.F449F	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	449	Domain V.|Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCAAATTTCCACGGAGACA	0.493000														79			27		0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	70026601	70026601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:70026601C>T	uc004dyl.3	-	9	853	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	TEX11_uc004dym.3_Missense_Mutation_p.E216K	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	231							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TTCTGGGTTTCTACTCCAAAG	0.318000														4			10		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400656	89400656	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89400656C>T	uc010upo.1	+	11	5214	c.4840C>T	c.(4840-4842)Cta>Tta	p.L1614L	ACAN_uc010upp.1_Silent_p.L1614L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1614					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)			TTCTGGAACTCTAGGAAGTGG	0.547000														177			45		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167129313	167129313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:167129313G>A	uc010fpl.3	-	16	3255	c.2914C>T	c.(2914-2916)Cct>Tct	p.P972S	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	983						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTTGCATCAGGGTCTTCTTCA	0.373000														30			13		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156814893	156814893	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156814893G>A	uc010pht.2	-	11	2711	c.2412C>T	c.(2410-2412)ttC>ttT	p.F804F	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	804					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCGCAAAGACGAAGGTGGCGG	0.632000														1			3		0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327635	16327635	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:16327635G>A	uc003nbt.3	-	7	1878	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	ATXN1_uc010jpi.3_Missense_Mutation_p.R303W|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	303					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association	p.R303W(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GTGGCCTCCCGAGGGACAAAG	0.662000														43			25		0	0	1	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047788	46047788	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46047788C>T	uc002zfp.4	+	0	749	c.700C>T	c.(700-702)Ctc>Ttc	p.L234F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	234	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TGTGTCCCTCCTCTGCCGCCC	0.687000														209			32		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167675204	167675204	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:167675204C>T	uc010jjd.3	+	26	7233	c.7233C>T	c.(7231-7233)acC>acT	p.T2411T	ODZ2_uc003lzr.4_Silent_p.T2181T|ODZ2_uc003lzt.4_Silent_p.T1784T|ODZ2_uc010jje.3_Silent_p.T1675T	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)		ACCCCCTGACCAAGCTGGTCC	0.547000														83			21		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704332	68704332	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:68704332C>T	uc001ook.1	+	12	2486	c.2384C>T	c.(2383-2385)cCc>cTc	p.P795L	IGHMBP2_uc001ool.1_Missense_Mutation_p.P419L|IGHMBP2_uc001oom.1_Missense_Mutation_p.P373L	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	795	Gln/Pro-rich.				DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCCTGGGACCCCCAGCAGGG	0.706000														24			12		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46713053	46713053	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46713053C>T	uc003cqa.2	-	24	2899	c.2706G>A	c.(2704-2706)gaG>gaA	p.E902E	ALS2CL_uc003cpx.2_Silent_p.E249E|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Silent_p.E417E|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.E902E	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	902	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TCAGGTGGATCTCGGCTCCCA	0.612000														67			15		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111964046	111964046	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111964046G>A	uc001eba.3	-	7	811	c.755C>T	c.(754-756)cCc>cTc	p.P252L	OVGP1_uc001eaz.3_Missense_Mutation_p.P214L|OVGP1_uc010owb.2_Intron	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	252					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CTTCTCTGAGGGTGCCCCAAG	0.527000														92			27		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801106	185801106	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:185801106C>T	uc002uph.3	+	3	1577	c.983C>T	c.(982-984)tCa>tTa	p.S328L		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	328						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGTCAAAATTCAGTCCCATTA	0.323000														45			17		0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191187	6191187	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6191187G>A	uc010qzy.2	-	0	370	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCACAAAGCGATCAAAGGCC	0.498000														56			26		0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987664	61987664	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61987664G>A	uc002jda.1	-	3	391	c.329C>T	c.(328-330)tCc>tTc	p.S110F	CSHL1_uc002jcz.1_Missense_Mutation_p.S87F|CSHL1_uc002jdb.1_Missense_Mutation_p.S16F|CSHL1_uc002jdc.1_Missense_Mutation_p.S27F|CSHL1_uc002jdd.1_Missense_Mutation_p.S48F|CSHL1_uc021ubn.1_3'UTR	NM_022579	NP_001309	Q14406	CSHL_HUMAN	Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA.	110						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GAGCAGCAGGGAGATGTGGAG	0.627000														38			17		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63149732	63149733	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63149732_63149733CC>TT	uc001nww.3	+	5	1324_1325	c.1056_1057CC>TT	c.(1054-1059)tccctc>tcTTtc	p.L353F	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.	353					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAGGATCTCCCTCCTGTCCTT	0.401000														108			42		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65181297	65181297	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:65181297A>C	uc002lke.1	-	1	1803	c.579T>G	c.(577-579)ttT>ttG	p.F193L	LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Missense_Mutation_p.F193L	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	183						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGTTATATAAAAAGTCAAAGG	0.403000														51			28		0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788508	42788508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42788508C>T	uc002xli.1	-	1	1792	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	307					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGGAGCGTTCGCTCACGCCG	0.677000														49			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841872	13841872	+	Missense_Mutation	SNP	G	A	A	rs142155986	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13841872G>A	uc003jfd.2	-	32	5455	c.5413C>T	c.(5413-5415)Cgc>Tgc	p.R1805C		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1805	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)					GCTGCCTGGCGAATCACAAGA	0.408000									Kartagener syndrome					92			37		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581550	7581550	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7581550C>T	uc003mxp.1	+	22	5406	c.5127C>T	c.(5125-5127)ctC>ctT	p.L1709L	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1709	Central fibrous rod domain.				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)		TGCAGTCTCTCACAGAGAACC	0.463000														125			18		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31793040	31793040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:31793040C>T	uc003tcm.2	-	17	2549	c.2088G>A	c.(2086-2088)atG>atA	p.M696I	PDE1C_uc003tcn.1_Missense_Mutation_p.M696I|PDE1C_uc003tco.2_Missense_Mutation_p.M756I	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	696					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GAATCTTTTTCATTTTGATCC	0.468000														284			102		0	0	1	0	0
INTS12	57117	broad.mit.edu	37	4	106621017	106621017	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:106621017G>A	uc003hxw.3	-	2	404	c.146C>T	c.(145-147)cCa>cTa	p.P49L	INTS12_uc010ilr.3_Missense_Mutation_p.P49L	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA.	49					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		CTTTTGAGATGGACGGTAACT	0.388000														226			27		0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76426617	76426617	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:76426617C>T	uc002bbq.3	+	1	168	c.13C>T	c.(13-15)Cca>Tca	p.P5S	C15orf27_uc010bkp.3_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	5						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GGCTGTGGCTCCATCTTTCAA	0.463000														64			62		0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9943555	9943555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:9943555C>T	uc003gmc.3	-	5	857	c.796G>A	c.(796-798)Gag>Aag	p.E266K	SLC2A9_uc003gmd.3_Missense_Mutation_p.E237K	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	266					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GCTCTTGCCTCGTTGTGCTTC	0.582000														28			16		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10998243	10998243	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:10998243C>T	uc002yis.1	-	10		c.2010G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		TTTTTGACACCATCTGTTCCT	0.378000														191			13		0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87636987	87636987	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:87636987G>A	uc002fkd.3	+	0	489	c.235G>A	c.(235-237)Ggg>Agg	p.G79R	JPH3_uc010vou.1_Intron	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	79	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GGAGAGCAAGGGGAAGTGGGT	0.682000														7			9		0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39409223	39409223	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:39409223C>T	uc003gua.3	+	0	751	c.654C>T	c.(652-654)ttC>ttT	p.F218F	KLB_uc011byj.2_Silent_p.F218F	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	218	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						TAGATATCTTCAATGACTATG	0.393000														107			41		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929783	121929783	+	Missense_Mutation	SNP	C	T	T	rs145920249		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:121929783C>T	uc004bkc.2	-	7	2321	c.1865G>A	c.(1864-1866)cGg>cAg	p.R622Q		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	622					cell cycle arrest|cell death	cytoplasm	protein binding	p.R622R(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						TAGCCGAGTCCGACTACGTAG	0.532000														103			62		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74536434	74536434	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74536434G>A	uc002axo.3	+	1	524	c.130G>A	c.(130-132)Gct>Act	p.A44T		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	247							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCTCCATGGGGCTACCAACCT	0.617000														101			19		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54783815	54783815	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54783815C>T	uc002qfb.3	-	3	452	c.186G>A	c.(184-186)agG>agA	p.R62R	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.R62R|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.R62R|LILRB2_uc010yet.2_Splice_Site|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	62	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATTTTTTCTCCCTATATAGAC	0.552000														183			30		0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25279504	25279504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:25279504C>T	uc001isg.1	-	3	647	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	ENKUR_uc001ish.1_Missense_Mutation_p.R99Q	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	Homo sapiens enkurin, TRPC channel interacting protein (ENKUR), mRNA.	161						cilium|flagellum	SH3 domain binding|calmodulin binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TTCCTCGTTTCGCTTACATAT	0.358000														59			12		0	0	1	0	0
RNF157	114804	broad.mit.edu	37	17	74151734	74151734	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74151734G>A	uc002jqz.3	-	14	1676	c.1607C>T	c.(1606-1608)tCt>tTt	p.S536F	RNF157_uc002jra.3_Missense_Mutation_p.S536F|DQ570973_uc002jrb.1_Non-coding_Transcript	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	536	Ser-rich.						zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GTAGGAGCCAGACATGGAGGA	0.617000														29			8		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480344	140480344	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140480344G>A	uc003lio.3	+	0	111	c.111G>A	c.(109-111)gaG>gaA	p.E37E	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	37	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTGGCTGAGGAAAAAGAGA	0.512000														59			7		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100700	168100700	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:168100700G>A	uc002udx.3	+	8	2887	c.2798G>A	c.(2797-2799)cGa>cAa	p.R933Q	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R758Q|XIRP2_uc010fpq.3_Missense_Mutation_p.R711Q|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	758					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGTACACACGAACAGTGAAA	0.333000														51			25		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60757792	60757792	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:60757792G>A	uc002jad.3	+	15	2853	c.2451G>A	c.(2449-2451)cgG>cgA	p.R817R	MRC2_uc002jae.3_5'Flank|MRC2_uc002jaf.3_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	817					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGGACGTGCGGGAGCCCGACG	0.652000														134			46		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21208825	21208825	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21208825C>T	uc010bwn.1	-	18	2386	c.2304G>A	c.(2302-2304)gaG>gaA	p.E768E	ZP2_uc002dii.2_Silent_p.E738E	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	738					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)		CAGTCCTTTTCTCGTACAGGT	0.453000														77			11		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437709	120437709	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:120437709G>A	uc001eij.3	-	0	1439	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	417	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ACTCCTCTGTGGAACCACAGT	0.438000														155			50		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892662	166892662	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166892662G>A	uc002udo.4	-	17	3552	c.3325C>T	c.(3325-3327)Ccc>Tcc	p.P1109S	SCN1A_uc010fpk.3_Missense_Mutation_p.P1081S|SCN1A_uc021vsb.1_Missense_Mutation_p.P1098S	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1109						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTAAGACTGGGGTTGTTTATG	0.358000														114			56		0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	944731	944731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:944731C>T	uc003sjo.4	-	4	660	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	ADAP1_uc003sjm.4_5'UTR|ADAP1_uc011jvs.2_Missense_Mutation_p.R61Q|ADAP1_uc003sjn.4_Missense_Mutation_p.R84Q|ADAP1_uc010ksc.3_Missense_Mutation_p.R84Q	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	156	PH 1.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						AGCACCCTCTCGTTCTGTCAG	0.602000														54			32		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698458	169698458	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169698458G>A	uc001ggm.4	-	6	1116	c.959C>T	c.(958-960)tCc>tTc	p.S320F	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	320	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	p.H319Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TCCAGCAGGGGAATGGCTGCA	0.522000														37			10		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214889	140214889	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140214889T>C	uc003lhq.2	+	0	921	c.921T>C	c.(919-921)caT>caC	p.H307H	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_uc011dac.2_Silent_p.H307H	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	322	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATAGGACATATGGATTTTG	0.448000														27			16		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751996	247751996	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247751996C>T	uc010pyy.2	+	0	335	c.335C>T	c.(334-336)tCc>tTc	p.S112F		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCCCTGGGATCCACTGAGTGC	0.522000														129			50		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13563773	13563773	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:13563773G>A	uc002mwy.3	-	2	692	c.456C>T	c.(454-456)atC>atT	p.I152I	CACNA1A_uc010xnd.2_Silent_p.I152I|CACNA1A_uc021ups.1_Silent_p.I152I|CACNA1A_uc010xne.2_Silent_p.I152I|CACNA1A_uc010dze.2_Silent_p.I152I|CACNA1A_uc021upt.1_Silent_p.I152I	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	152					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CAAGGGCAATGATTTTAATTC	0.498000														139			57		0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7770734	7770734	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:7770734G>A	uc011bwk.1	-	17	2527	c.2254_splice	c.e17-1	p.S752_splice	AFAP1_uc003gkg.1_Splice_Site_p.S668_splice|AFAP1-AS1_uc003gkd.4_Intron	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	668						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GAACACTGGAGACTTAACGGA	0.547000														121			36		0	0	1	0	0
BPIFA1	51297	broad.mit.edu	37	20	31825928	31825928	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31825928C>T	uc002wyt.4	+	2	298	c.228C>T	c.(226-228)atC>atT	p.I76I	BPIFA1_uc002wyu.4_Silent_p.I76I|BPIFA1_uc002wyv.3_Silent_p.I76I	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA.	76					innate immune response	extracellular region	lipid binding										TCCTGGACATCCTGAAGCCTG	0.562000														75			28		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854285	12854285	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12854285G>A	uc001auj.2	+	2	612	c.509G>A	c.(508-510)tGg>tAg	p.W170*		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	170								p.W170L(3)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTTCCAGTGGGTTTACCAA	0.433000														511			42		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158074052	158074052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:158074052G>A	uc003ipj.2	+	8	1289	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	GLRB_uc021xtp.1_Intron|GLRB_uc021xtq.1_Missense_Mutation_p.E363K	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	363					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GGTTGAAGCTGAAAAAGCCAG	0.448000														51			15		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39023355	39023355	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39023355G>A	uc002oit.3	+	77	11368	c.11238G>A	c.(11236-11238)gaG>gaA	p.E3746E	RYR1_uc002oiu.3_Silent_p.E3741E|RYR1_uc002oiv.1_Silent_p.E661E|RYR1_uc010xuf.1_Silent_p.E666E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3746					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AAGCTGAAGAGGAGGTTGAGG	0.597000														44			19		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71977544	71977544	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:71977544C>T	uc001swl.3	+	17	1802	c.1754C>T	c.(1753-1755)tCc>tTc	p.S585F	LGR5_uc001swm.3_Missense_Mutation_p.S561F|LGR5_uc021rar.1_Missense_Mutation_p.S513F|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	585						integral to plasma membrane	protein-hormone receptor activity	p.R584K(2)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTTTTCAGATCCCCTCTGTAC	0.502000														117			36		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48669750	48669750	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48669750G>A	uc003cuf.1	-	40	10728	c.10728C>T	c.(10726-10728)atC>atT	p.I3576I	CELSR3_uc003cug.3_Silent_p.I150I|CELSR3_uc011bbp.2_Intron|CELSR3_uc010hke.3_Silent_p.I22I|CELSR3_uc003cuk.3_Intron|CELSR3_uc003cuh.3_Silent_p.I171I|CELSR3_uc003cui.3_Silent_p.I171I|CELSR3_uc003cuj.3_Silent_p.I171I	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGTCTCATTGATCATGGAGT	0.592000														27			26		0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43865643	43865643	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43865643C>T	uc002owi.3	+	8	1032	c.990C>T	c.(988-990)ccC>ccT	p.P330P	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	331	UPAR/Ly6 2.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GTGTGCAGCCCCTTGGAACCT	0.602000														69			9		0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	131781525	131781525	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:131781525G>A	uc010sci.2	+	1	481	c.150G>A	c.(148-150)ggG>ggA	p.G50G	NTM_uc001qgm.3_Silent_p.G50G|NTM_uc010sch.2_Silent_p.G41G|NTM_uc010scj.2_Silent_p.G9G|NTM_uc001qgo.3_Silent_p.G50G|NTM_uc001qgq.3_Silent_p.G50G|NTM_uc001qgp.3_Silent_p.G50G	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	50	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TCCGGCAGGGGGAGAGCGCCA	0.612000											OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		89			32		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18333104	18333104	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18333104C>T	uc010xqc.2	-	1	752	c.272G>A	c.(271-273)gGg>gAg	p.G91E	PDE4C_uc002nik.4_Missense_Mutation_p.G91E|PDE4C_uc002nil.4_Missense_Mutation_p.G91E|PDE4C_uc002nig.4_5'Flank|PDE4C_uc002nih.4_5'Flank|PDE4C_uc010ebk.3_5'UTR|PDE4C_uc002nii.4_Missense_Mutation_p.G59E|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_5'Flank|PDE4C_uc002nim.1_Missense_Mutation_p.G91E	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	91					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGCCCTCCTCCCACACGAGAG	0.637000														65			6		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114305109	114305109	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:114305109G>A	uc004bff.2	+	5	2118	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	632					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TCATTCAGGAGAAAAACCCTA	0.373000														58			13		0	0	1	0	0
MSI2	124540	broad.mit.edu	37	17	55704618	55704618	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:55704618C>T	uc002iuz.1	+	9	854	c.681C>T	c.(679-681)ggC>ggT	p.G227G	MSI2_uc010wnm.1_Silent_p.G205G|MSI2_uc002iva.3_Silent_p.G223G	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	Homo sapiens musashi homolog 2 (Drosophila) (MSI2), transcript variant 1, mRNA.	227						cytoplasm	RNA binding|nucleotide binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		CGACCTATGGCCGTGGCTACC	0.537000			T	HOXA9	CML									116			42		0	0	1	0	0
SET	6418	broad.mit.edu	37	9	131456259	131456259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131456259G>A	uc004bvt.4	+	6	1028	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	SET_uc022bol.1_Missense_Mutation_p.E241K|SET_uc004bvu.4_Missense_Mutation_p.E250K|SET_uc011mbj.2_Missense_Mutation_p.E239K	NM_001122821	NP_001116293	Q01105	SET_HUMAN	Homo sapiens SET nuclear oncogene (SET), transcript variant 1, mRNA.	263	Asp/Glu-rich (highly acidic).				DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		agatattgacgaagaagggga	0.383000			T	NUP214	AML									21			8		0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18769701	18769701	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:18769701C>T	uc010gri.1	-	0		c.144G>A			GGT3P_uc011ago.1_Non-coding_Transcript|GGT3P_uc011agp.1_Non-coding_Transcript|GGT3P_uc002zob.1_Non-coding_Transcript					Homo sapiens gamma-glutamyltransferase 3 pseudogene (GGT3P), non-coding RNA.																		TCCAGGACTGCCGCCAAGCCC	0.682000														94			16		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306918	54306918	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54306918G>A	uc021smr.1	+	0	1818	c.1818G>A	c.(1816-1818)ttG>ttA	p.L606L	UNC13C_uc021sms.1_Silent_p.L606L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	606					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)		ACCAGCATTTGAATGGAGGTG	0.502000														99			16		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96031005	96031005	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:96031005C>T	uc004ati.1	+	17	4010	c.4010C>T	c.(4009-4011)tCc>tTc	p.S1337F	WNK2_uc011lud.1_Missense_Mutation_p.S1337F|WNK2_uc004atj.3_Missense_Mutation_p.S1337F|WNK2_uc004atk.3_Missense_Mutation_p.S974F	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1337					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCTCTAAGCTCCCTGCCGCCA	0.627000														32			8		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47842882	47842882	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:47842882G>A	uc003tny.2	-	52	7922	c.7888C>T	c.(7888-7890)Cct>Tct	p.P2630S	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2630					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGAATGCCAGGAAGATAGACG	0.498000														46			32		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634323	32634323	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:32634323C>T	uc003zrg.1	-	0	1345	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	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.	419					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)		AGGAAGTTTTCGTCAGCCAGA	0.443000														246			65		0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33433180	33433180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33433180G>A	uc002xay.3	-	14	1983	c.1940C>T	c.(1939-1941)gCt>gTt	p.A647V	GGT7_uc010gex.3_Non-coding_Transcript	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA.	647					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GTCCTTAACAGCGATGATGAA	0.577000														43			21		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466838	56466838	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56466838G>A	uc002qmh.3	+	2	1485	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	NLRP8_uc010etg.3_Missense_Mutation_p.E472K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	472	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTTAGGTAAAGAAGATCTTGA	0.498000														110			42		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31915571	31915571	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31915571C>T	uc003nyj.4	+	4	989	c.711C>T	c.(709-711)tcC>tcT	p.S237S	CFB_uc011dor.2_Silent_p.S739S|CFB_uc003nyi.2_Silent_p.S237S	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	237					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCCTGTCTTCCCTGACAGAGA	0.547000														184			87		0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102241367	102241367	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:102241367G>A	uc002bxm.3	-	9	1297	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	TARSL2_uc002bxl.3_5'UTR|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	414					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCAAATCGTGGAAAAAGAAAA	0.323000														51			46		0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18170872	18170872	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18170872C>T	uc002nhx.1	-	16	1986	c.1935G>A	c.(1933-1935)gtG>gtA	p.V645V	IL12RB1_uc002nhw.1_Silent_p.V605V|IL12RB1_uc010xqb.1_Silent_p.V605V	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	605					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCTGGAAGTCCACTGGGTTGA	0.592000														18			3		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73046169	73046169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:73046169G>A	uc001sxa.3	+	15	2638	c.2608G>A	c.(2608-2610)Gaa>Aaa	p.E870K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	870					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						GGATGTCTGGGAATTCATATG	0.378000														84			28		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237349719	237349719	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:237349719C>T	uc002vwb.2	-	6	1030	c.996G>A	c.(994-996)ggG>ggA	p.G332G	IQCA1_uc002vvz.1_Silent_p.G325G|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.G325G	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	325							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TAATAGCTGACCCTCCTTCTT	0.313000														1			2		0	0	1	0	0
GBE1	2632	broad.mit.edu	37	3	81698074	81698074	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:81698074G>A	uc021xav.1	-	4	906	c.624C>T	c.(622-624)tcC>tcT	p.S208S	GBE1_uc021xax.1_Silent_p.S167S	NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	208					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TTCCTTCATGGGAAGAAATTC	0.318000									Glycogen Storage Disease, type IV					18			9		0	0	1	0	0
RNF186	54546	broad.mit.edu	37	1	20141139	20141139	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:20141139G>A	uc001bcr.3	-	0	633	c.456C>T	c.(454-456)gcC>gcT	p.A152A		NM_019062	NP_061935	Q9NXI6	RN186_HUMAN	Homo sapiens ring finger protein 186 (RNF186), mRNA.	152						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGCGCCGGGCTGCCACGT	0.607000														141			28		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932157	83932157	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83932157C>G	uc002bjt.1	-	3	1934	c.1846G>C	c.(1846-1848)Gag>Cag	p.E616Q	BNC1_uc010uos.1_Missense_Mutation_p.E604Q	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	616					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CCACTGGACTCAATTACTGAT	0.542000														122			7		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57286838	57286838	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57286838G>A	uc002qnr.2	-	10	1184	c.802C>T	c.(802-804)Cct>Tct	p.P268S	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Missense_Mutation_p.P64S|PEG3_uc010ygq.1_Missense_Mutation_p.P64S|PEG3_uc010etp.2_Missense_Mutation_p.P268S|PEG3_uc010ygs.1_Missense_Mutation_p.P268S|PEG3_uc002qnq.2_Missense_Mutation_p.P268S	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	419					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATTGTTATAGGAGTCAAAAGT	0.443000														92			29		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72993646	72993646	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:72993646G>A	uc002fck.3	-	1	1072	c.399C>T	c.(397-399)atC>atT	p.I133I	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	133					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGGTAGACGATCTCCCCGG	0.711000														47			17		0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62178649	62178649	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62178649G>A	uc002yfi.1	-	0	209	c.168C>T	c.(166-168)ttC>ttT	p.F56F		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	56	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGAGCGCAAGGAAGAGCTGAG	0.701000														20			6		0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27949645	27949645	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27949645C>T	uc001boj.3	-	1	383	c.237G>A	c.(235-237)gtG>gtA	p.V79V	FGR_uc001bok.3_Silent_p.V79V|FGR_uc001bol.3_Silent_p.V79V|FGR_uc001bom.3_Silent_p.V79V	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	79	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGAACAGGGTCACCCCAATCC	0.562000														24			10		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887508	9887508	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:9887508C>T	uc002koi.4	+	1	1481	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	TXNDC2_uc002koh.4_Silent_p.I277I|TXNDC2_uc021ugx.1_Silent_p.I277I	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	344	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGGGTGACATCCCCAAGTCCC	0.577000														133			68		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335524	20335524	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20335524G>A	uc002dgv.3	-	2	232	c.149C>T	c.(148-150)gCt>gTt	p.A50V	GP2_uc002dgw.3_Missense_Mutation_p.A50V|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	50						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGTGCCAGGAGCTCCGCAGTC	0.547000														57			12		0	0	1	0	0
NOXRED1	122945	broad.mit.edu	37	14	77861022	77861022	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:77861022G>A	uc001xtr.3	-	5	1199	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S		NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	Homo sapiens NADP-dependent oxidoreductase domain containing 1 (NOXRED1), mRNA.	344					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CTTTGGTTAGGGAGATGCCAA	0.443000														58			30		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092458	30092458	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:30092458C>T	uc010dmc.3	+	0		c.833C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		GATGTATGGCCGTAAAGTGGG	0.532000														103			53		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52942981	52942981	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:52942981C>T	uc002lga.3	-	10	1024	c.964G>A	c.(964-966)Ggc>Agc	p.G322S	TCF4_uc021ukg.1_Missense_Mutation_p.G60S|TCF4_uc021ukh.1_Missense_Mutation_p.G60S|TCF4_uc002lfw.4_Missense_Mutation_p.G60S|TCF4_uc010xdu.1_Missense_Mutation_p.G90S|TCF4_uc010xdv.1_Missense_Mutation_p.G90S|TCF4_uc021uki.1_Missense_Mutation_p.G149S|TCF4_uc002lfx.2_Missense_Mutation_p.G149S|TCF4_uc010xdw.1_Missense_Mutation_p.G90S|TCF4_uc002lfy.2_Missense_Mutation_p.G178S|TCF4_uc010xdx.1_Missense_Mutation_p.G196S|TCF4_uc021ukj.1_Missense_Mutation_p.G160S|TCF4_uc021ukk.1_Missense_Mutation_p.G160S|TCF4_uc021ukl.1_Missense_Mutation_p.G218S|TCF4_uc002lfz.2_Missense_Mutation_p.G220S|TCF4_uc010dph.1_Missense_Mutation_p.G220S|TCF4_uc010dpi.3_Missense_Mutation_p.G226S|TCF4_uc010xdy.1_Missense_Mutation_p.G196S|TCF4_uc002lgc.4_Missense_Mutation_p.G141S|TCF4_uc021ukm.1_Missense_Mutation_p.M104I	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	220					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CTGTGATGGCCATCTGTAAAG	0.463000														157			24		0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200143213	200143213	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:200143213C>T	uc001gvb.3	+	7	1707	c.1501C>T	c.(1501-1503)Ctt>Ttt	p.L501F	NR5A2_uc001gvc.3_Missense_Mutation_p.L455F|NR5A2_uc009wzh.3_Missense_Mutation_p.L461F|NR5A2_uc010pph.2_Missense_Mutation_p.L429F	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	501					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					ACAGCTACTTCTTCGACTACC	0.498000														30			16		0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064729	78064729	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:78064729C>T	uc002ffh.4	+	2	666	c.585C>T	c.(583-585)atC>atT	p.I195I	CLEC3A_uc021tlr.1_Silent_p.I143I	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	195					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						AGTTCACCATCCCTCAATAGG	0.423000														42			5		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30316198	30316198	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:30316198G>A	uc002ymr.2	-	22	4162	c.4149C>T	c.(4147-4149)tcC>tcT	p.S1383S		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	1337							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CATTCTGAAAGGATGTTTCAG	0.358000														112			43		0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21840062	21840063	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21840062_21840063GG>AA	uc001wao.2	-	2	639_640	c.300_301CC>TT	c.(298-303)gcccct>gcTTct	p.P101S		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	101					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GTGATGGCAGGGGCTCCATTAG	0.381000														60			16		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701687	56701687	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56701687G>A	uc010ygh.2	-	3	997	c.997C>T	c.(997-999)Cat>Tat	p.H333Y		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	333					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCTGGGGAATGAACTGGATTG	0.547000														104			37		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322440	55322440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55322440C>T	uc010rig.2	+	0	658	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTTCCAGCTTCCCTTTTGTGG	0.478000										HNSCC(20;0.049)				49			10		0	0	1	0	0
GALNT7	51809	broad.mit.edu	37	4	174169386	174169386	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:174169386C>T	uc003isz.4	+	1	465	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C		NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.	128					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TCCTGTGCTTCGCCCAGGGAT	0.512000														61			32		0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69652691	69652691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:69652691C>T	uc001sut.4	+	5	1126	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L	CPSF6_uc001suu.4_Missense_Mutation_p.P376L|CPSF6_uc010stk.2_5'UTR	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	339	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ACACTAGCTCCTCCTCCGCAT	0.627000														172			41		0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	488989	488989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:488989C>T	uc003mtd.3	-	26	2805	c.2671G>A	c.(2671-2673)Gca>Aca	p.A891T	EXOC2_uc003mte.3_Missense_Mutation_p.A891T|EXOC2_uc011dho.2_Missense_Mutation_p.A486T	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	891					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTTTTATCTGCTCCACTGGAA	0.428000														174			76		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30350522	30350522	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:30350522G>A	uc002kxm.1	-	1	421	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	11						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GGCTGGGGTCGAAGGTGGAGG	0.642000														62			16		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124402857	124402857	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124402857C>T	uc001lgk.1	+	52	7291	c.7185C>T	c.(7183-7185)gtC>gtT	p.V2395V	DMBT1_uc001lgl.1_Silent_p.V2385V|DMBT1_uc001lgm.1_Silent_p.V1767V|DMBT1_uc021qaf.1_Silent_p.V2395V|DMBT1_uc021qag.1_Silent_p.V2385V|DMBT1_uc021qah.1_Silent_p.V1767V|DMBT1_uc009xzz.1_Silent_p.V2394V|DMBT1_uc010qtx.1_Silent_p.V1115V|DMBT1_uc009yab.1_Silent_p.V1098V|DMBT1_uc009yac.1_Silent_p.V689V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2395					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.V2395V(4)|p.V2524V(2)		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)				AGGTGGACGTCGTCCTGGGTC	0.647000														48			9		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6947245	6947245	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:6947245G>A	uc002knm.3	-	60	8855	c.8761C>T	c.(8761-8763)Cga>Tga	p.R2921*	LAMA1_uc002knk.3_Nonsense_Mutation_p.R251*|LAMA1_uc002knl.3_Nonsense_Mutation_p.R374*|LAMA1_uc010wzj.2_Nonsense_Mutation_p.R2397*	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2921	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGGAGGTTCGAAACTCCAGT	0.562000														57			23		0	0	1	0	0
VN1R10P	387316	broad.mit.edu	37	6	27293490	27293490	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:27293490G>A	uc010jqt.3	+	0	951	c.429G>A	c.(427-429)ttG>ttA	p.L143L		NM_032030	NP_114419			SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b;																		CTTTGATATTGATTAATTATG	0.328000														44			13		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35131484	35131484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:35131484G>A	uc003teq.1	-	19	2209	c.1102C>T	c.(1102-1104)Cca>Tca	p.P368S	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TCGTAAAGTGGATGATTCACA	0.418000														63			23		0	0	1	0	0
LCE3D	84648	broad.mit.edu	37	1	152552347	152552347	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152552347G>A	uc021oza.1	-	0	66	c.66C>T	c.(64-66)ccC>ccT	p.P22P	LCE3D_uc001fab.3_Silent_p.P22P	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	Homo sapiens late cornified envelope 3D (LCE3D), mRNA.	22					keratinization			p.C21F(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GGCTCTTTGGGGGACACTTGG	0.607000														151			24		0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681174	3681174	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:3681174G>A	uc001lye.1	+	2	526	c.425G>A	c.(424-426)cGg>cAg	p.R142Q	ART1_uc009yeb.1_Missense_Mutation_p.R142Q	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	142					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GGCCGCTCCCGGGCCCACTAC	0.667000														49			26		0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123301256	123301256	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:123301256C>T	uc003ieo.3	+	2	264	c.32C>T	c.(31-33)tCg>tTg	p.S11L	ADAD1_uc003iep.3_Missense_Mutation_p.S11L|ADAD1_uc003ieq.3_5'UTR	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	11					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTCAGAGTTCGCAGGTCCCC	0.433000														43			16		0	0	1	0	0
AMELX	265	broad.mit.edu	37	X	11316365	11316365	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:11316365C>T	uc004cus.3	+	4	222	c.154C>T	c.(154-156)Cct>Tct	p.P52S	ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.3_Missense_Mutation_p.P38S|AMELX_uc004cuu.3_Missense_Mutation_p.P22S	NM_182680	NP_872621	Q99217	AMELX_HUMAN	Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA.	38					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						GGTGCTTACCCCTTTGAAGTG	0.353000														117			68		0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101906464	101906464	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:101906464C>T	uc002bxa.2	-	13	2106	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	PCSK6_uc010bpd.3_Missense_Mutation_p.E395K|PCSK6_uc002bwy.3_Missense_Mutation_p.E598K|PCSK6_uc010bpe.3_Missense_Mutation_p.E595K|PCSK6_uc002bxb.2_Missense_Mutation_p.E598K|PCSK6_uc002bxc.1_Missense_Mutation_p.E598K|PCSK6_uc002bxd.1_Missense_Mutation_p.E598K|PCSK6_uc002bxe.3_Missense_Mutation_p.E598K	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	599	Homo B/P.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACTGCCCTTCAGCCTTTTCT	0.502000														26			26		0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138978066	138978066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:138978066C>T	uc011kqr.2	+	15	3758	c.3758C>T	c.(3757-3759)cCt>cTt	p.P1253L		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	1253										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AATGTGACTCCTTTTGGGATG	0.488000														89			46		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32172034	32172034	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32172034C>T	uc003obb.3	-	18	3137	c.2998G>A	c.(2998-3000)Ggg>Agg	p.G1000R	NOTCH4_uc003oba.3_5'Flank|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1000	EGF-like 25.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGCGTAGCCCCACAAAGCCT	0.592000														47			20		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848668	73848668	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:73848668G>A	uc003xzb.3	+	2	1666	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	360					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)			TGAGAAGGATGAAGATGCTAC	0.438000														182			40		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41585482	41585482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:41585482C>T	uc003xok.3	-	3	355	c.271G>A	c.(271-273)Gat>Aat	p.D91N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.D91N|ANK1_uc003xoj.3_Missense_Mutation_p.D91N|ANK1_uc003xol.3_Missense_Mutation_p.D91N|ANK1_uc003xom.3_Missense_Mutation_p.D124N	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	91	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACCACCTCATCCTGCCCGGCT	0.602000														65			13		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160114891	160114891	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:160114891C>T	uc003lym.1	-	4	1038	c.191G>A	c.(190-192)aGg>aAg	p.R64K	ATP10B_uc003lyp.2_Missense_Mutation_p.R64K|ATP10B_uc011deg.1_Missense_Mutation_p.R108K|ATP10B_uc003lyo.2_5'Flank	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	64					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	p.R64R(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGTATCTCCTGGAGACCTC	0.498000														210			14		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38758068	38758068	+	Missense_Mutation	SNP	G	A	A	rs145862170		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38758068G>A	uc021yzh.1	+	19	2777	c.2668G>A	c.(2668-2670)Gaa>Aaa	p.E890K	DNAH8_uc003ooe.2_Missense_Mutation_p.E673K	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTCTAGGTGGAATCTGTGTT	0.353000														139			19		0	0	1	0	0
APCDD1L	164284	broad.mit.edu	37	20	57035978	57035978	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:57035978C>T	uc010zzp.1	-	4	1731	c.1407G>A	c.(1405-1407)gaG>gaA	p.E469E	APCDD1L_uc002xze.1_Silent_p.E458E	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA.	458						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			AGTCGGGGGCCTCCCCATGAC	0.627000														74			28		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120172084	120172084	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:120172084G>A	uc001txj.2	-	25	3291	c.3235C>T	c.(3235-3237)Cta>Tta	p.L1079L	CIT_uc001txh.2_Silent_p.L571L|CIT_uc001txi.2_Silent_p.L1037L	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1037					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTTTTTCTAGCAGCTCATCG	0.542000														74			23		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661734	77661734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77661734C>T	uc011cbx.2	+	4	3361	c.2408C>T	c.(2407-2409)tCt>tTt	p.S803F	SHROOM3_uc011cbz.1_Missense_Mutation_p.S627F|SHROOM3_uc003hkf.1_Missense_Mutation_p.S678F|SHROOM3_uc003hkg.3_Missense_Mutation_p.S581F	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	803					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GTGGGCGGCTCTGGTTTTGGC	0.552000														65			21		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19426164	19426164	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19426164C>T	uc010tcj.1	-	0		c.19946G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GCCAACCATTCATGCAGTGTT	0.388000														111			40		0	0	1	0	0
WDR92	116143	broad.mit.edu	37	2	68358422	68358422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:68358422G>A	uc002see.1	-	7	1103	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	WDR92_uc002sed.1_Non-coding_Transcript	NM_138458	NP_612467	Q96MX6	WDR92_HUMAN	Homo sapiens WD repeat domain 92 (WDR92), mRNA.	341					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						TTGGTCAAATGAACTACAGAC	0.463000														154			44		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6184597	6184597	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6184597C>T	uc001qnn.1	-	6	1028	c.778G>A	c.(778-780)Ggg>Agg	p.G260R	VWF_uc010set.1_Missense_Mutation_p.G260R	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	260					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CACTCCAGCCCCCCAGCACAC	0.642000														52			8		0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101276378	101276378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:101276378G>A	uc003yjj.1	-	7	1669	c.1352C>T	c.(1351-1353)cCa>cTa	p.P451L	RNF19A_uc003yjk.1_Missense_Mutation_p.P451L	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	451					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			AAGAGAAATTGGAACTACGCC	0.363000														31			29		0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156128253	156128253	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156128253C>T	uc001fnl.3	+	4	617	c.438C>T	c.(436-438)gcC>gcT	p.A146A	SEMA4A_uc009wrq.3_Silent_p.A146A|SEMA4A_uc001fnm.3_Silent_p.A146A|SEMA4A_uc001fnn.3_Intron|SEMA4A_uc001fno.3_Silent_p.A146A	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	146	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GCACCTTCGCCTTCAGCCCTG	0.522000														197			18		0	0	1	0	0
SPTLC1	10558	broad.mit.edu	37	9	94809925	94809925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:94809925G>A	uc011ltv.1	-	9	992	c.954C>T	c.(952-954)tgC>tgT	p.C318C	SPTLC1_uc004arl.1_Silent_p.C318C			O15269	SPTC1_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 1 (SPTLC1), transcript variant 1, mRNA.	318						SPOTS complex|integral to membrane	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACCTGCCACAGCAGAAACCTC	0.393000														32			7		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827087	96827087	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96827087C>T	uc001kkb.3	-	2	454	c.359G>A	c.(358-360)tGg>tAg	p.W120*	CYP2C8_uc010qoa.2_Nonsense_Mutation_p.W50*|CYP2C8_uc010qoc.2_Nonsense_Mutation_p.W18*|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Nonsense_Mutation_p.W34*|CYP2C8_uc021pwl.1_Nonsense_Mutation_p.W50*|CYP2C8_uc010qod.1_Nonsense_Mutation_p.W34*	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	120					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GATCTCCTTCCATCTCTTTCC	0.488000														77			45		0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104032288	104032288	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104032288G>A	uc004bbb.3	+	2	589	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	LPPR1_uc011lvi.2_Missense_Mutation_p.E40K|LPPR1_uc004bbc.3_Missense_Mutation_p.E64K|LPPR1_uc010mtc.3_Missense_Mutation_p.E48K	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	64						integral to membrane	catalytic activity										AGGGACAGAGGAAGAAAGCTT	0.463000														50			4		0	0	1	0	0
TCRVA15	0	broad.mit.edu	37	14	22217766	22217766	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22217766C>T	uc010aiq.1	+	1	196	c.117C>T	c.(115-117)tcC>tcT	p.S39S	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Silent_p.S35S					Homo sapiens mRNA for T cell receptor alpha variable 5, partial cds, clone: SEB 96.																		GAGACAGCTCCGTTATAAACT	0.463000														35			11		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121976229	121976229	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121976229C>T	uc003eew.4	+	2	925	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S	CASR_uc003eev.4_Missense_Mutation_p.P163S	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	163					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	p.P163S(2)		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)	CTTCTACATTCCCCAGGTACT	0.567000														69			17		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178416282	178416282	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178416282G>A	uc003mjr.3	-	4	1316	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S	GRM6_uc010jla.1_5'UTR|GRM6_uc003mjs.1_5'UTR	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	379					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ATTTGCGGGTGGAATCGTCTG	0.612000														36			21		0	0	1	0	0
SF3B4	10262	broad.mit.edu	37	1	149899118	149899118	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:149899118G>A	uc001etk.2	-	1	596	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	SF3B4_uc009wll.1_Nonsense_Mutation_p.Q35*	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	Homo sapiens splicing factor 3b, subunit 4, 49kDa (SF3B4), mRNA.	35	RRM 1.					U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGTCCAGCCTGGAGAAACAGT	0.562000														83			15		0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69699102	69699102	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:69699102C>T	uc004dyi.2	+	9	1855	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	DLG3_uc004dyj.2_Missense_Mutation_p.S166F|DLG3_uc011mpn.2_Missense_Mutation_p.S20F	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	503	SH3.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GAAAAGAGGTCCTTGTATGTC	0.493000														29			40		0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17539536	17539536	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:17539536C>T	uc003ncb.3	+	7	916	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.L199F|CAP2_uc011djb.2_Missense_Mutation_p.L161F|CAP2_uc011djc.2_Missense_Mutation_p.L113F|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	225					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GTTTTCTGTCCTCTCCTCTGG	0.552000														180			34		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11384820	11384820	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:11384820C>T	uc003jfa.1	-	6	1279	c.1134G>A	c.(1132-1134)gaG>gaA	p.E378E	CTNND2_uc010itt.2_Silent_p.E287E|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	378					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGCATACAGCTCCTGCGAGT	0.692000														12			7		0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70978497	70978497	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:70978497C>T	uc003xym.3	-	4	1358	c.1156G>A	c.(1156-1158)Ggg>Agg	p.G386R		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GGCTGCTTCCCCGGCTCTGTG	0.537000														73			8		0	0	1	0	0
NR6A1	2649	broad.mit.edu	37	9	127300526	127300526	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:127300526G>A	uc004bor.1	-	5	847	c.669C>T	c.(667-669)taC>taT	p.Y223Y	NR6A1_uc004boq.1_Silent_p.Y218Y|NR6A1_uc010mwq.1_Silent_p.Y219Y	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA.	223	Sufficient for interaction with UIMC1 (By similarity).				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GTATATATTGGTAATGTGGAG	0.493000														66			23		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168176541	168176541	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:168176541C>T	uc010jjg.3	-	18	2493	c.2073G>A	c.(2071-2073)caG>caA	p.Q691Q	SLIT3_uc003mab.3_Silent_p.Q691Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	691	LRRCT 3.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAATGGCTTCTGGCACCTAG	0.572000														81			38		0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96059665	96059665	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:96059665C>T	uc001tei.3	-	8	2120	c.1671G>A	c.(1669-1671)ctG>ctA	p.L557L	NTN4_uc009ztf.3_Silent_p.L534L|NTN4_uc009ztg.3_Silent_p.L520L	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	557	NTR.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GGAAAATCTTCAGTTTGGTAG	0.363000														70			19		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20850797	20850797	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20850797G>A	uc001vxe.3	-	27	4165	c.4125C>T	c.(4123-4125)ttC>ttT	p.F1375F	TEP1_uc010ahk.3_Silent_p.F718F|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.F1267F|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1375	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CATACAGCGTGAAGAGCCTCA	0.552000														70			29		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3101050	3101050	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:3101050C>T	uc021xkv.1	+	2	542	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	133					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGAACTTTTTCTGCTGTGCAG	0.438000														88			9		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106774297	106774297	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106774297G>A	uc021ser.1	-	682		c.18548C>T								Parts of antibodies, mostly variable regions.																		AGCCTTGCAGGAAACCTTCAA	0.542000														36			20		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908168	103908168	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:103908168G>A	uc001phr.2	+	0	861	c.618G>A	c.(616-618)ctG>ctA	p.L206L	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	206					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCGACCCACTGGATCGGGAAG	0.507000														91			21		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31066223	31066223	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:31066223G>A	uc002yno.1	-	1	742	c.278C>T	c.(277-279)tCg>tTg	p.S93L	GRIK1_uc002ynn.3_Missense_Mutation_p.S93L|GRIK1_uc011acs.2_Missense_Mutation_p.S93L|GRIK1_uc011act.2_Intron|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.3_Missense_Mutation_p.S93L	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	93					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	ACCTCTCCGCGAGGCTTCAAA	0.423000														100			46		0	0	1	0	0
GEMIN7	79760	broad.mit.edu	37	19	45593555	45593555	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45593555C>T	uc002pap.1	+	2	334	c.183C>T	c.(181-183)gcC>gcT	p.A61A	PPP1R37_uc021uvs.1_5'Flank|GEMIN7_uc002paq.1_Silent_p.A61A|GEMIN7_uc002par.1_Silent_p.A61A|GEMIN7_uc021uvr.1_Silent_p.A61A	NM_001007270	NP_078983	Q9H840	GEMI7_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 7 (GEMIN7), transcript variant 3, mRNA.	61					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		CACGAGCCGCCCTTCGGGAGC	0.627000														44			8		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45459056	45459056	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:45459056C>T	uc001rol.3	-	0		c.139G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		AATTGGAGTTCGTTTCCTTCC	0.443000														26			13		0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61291930	61291930	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:61291930C>T	uc001nrv.3	-	5	749	c.697G>A	c.(697-699)Gac>Aac	p.D233N	SYT7_uc009ynr.3_Missense_Mutation_p.D308N	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	233	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCAATGGGGTCGTTGCGGCTG	0.547000														47			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640263	179640263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179640263C>T	uc021vsy.1	-	27	6553	c.6328G>A	c.(6328-6330)Gaa>Aaa	p.E2110K	TTN_uc021vsz.1_Missense_Mutation_p.E2064K|TTN_uc021vta.1_Missense_Mutation_p.E2064K|TTN_uc021vtb.1_Missense_Mutation_p.E2064K|TTN_uc002unb.2_Missense_Mutation_p.E2110K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2110	Ig-like 10.						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)			TTGTACCATTCACATTCGGGG	0.483000														58			6		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683361	100683361	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100683361C>T	uc003uxp.1	+	2	8717	c.8664C>T	c.(8662-8664)acC>acT	p.T2888T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2888	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T2888T(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGCTAGCACCCTTTCAACAA	0.483000														478			171		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79343150	79343150	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:79343150C>T	uc003hlb.2	+	33	5114	c.4674C>T	c.(4672-4674)ttC>ttT	p.F1558F	FRAS1_uc003hkw.3_Silent_p.F1558F|FRAS1_uc010ijj.2_Intron	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1557					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTTCTCGTTCGCTGGTAATG	0.567000														124			51		0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57883740	57883740	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57883740C>T	uc001sog.3	+	4	630	c.476C>T	c.(475-477)cCc>cTc	p.P159L	ARHGAP9_uc001sod.3_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Intron|MARS_uc010srq.1_Intron	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	159	GST C-terminal.				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGCAAGATCCCGCCTACCTC	0.473000														171			48		0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127570141	127570141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:127570141C>T	uc004bov.3	+	6	1363	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V	OLFML2A_uc004bow.3_Missense_Mutation_p.A203V	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	417	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CACGAGGGAGCCTGGATGAAG	0.612000														38			19		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008108	41008108	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41008108G>A	uc002ony.3	+	8	1057	c.971G>A	c.(970-972)tGg>tAg	p.W324*	SPTBN4_uc002onx.3_Nonsense_Mutation_p.W324*|SPTBN4_uc002onz.3_Nonsense_Mutation_p.W324*	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	324					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGCTGGCCTGGATCCACCGC	0.582000														76			30		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160100331	160100331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160100331C>T	uc001fvc.3	+	12	1903	c.1771C>T	c.(1771-1773)Cct>Tct	p.P591S	ATP1A2_uc001fvb.2_Missense_Mutation_p.P591S|ATP1A2_uc001fvd.3_Missense_Mutation_p.P327S|ATP1A2_uc009wtg.1_Missense_Mutation_p.P279S	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	591					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TATGATTGACCCTCCCCGGGC	0.577000														75			26		0	0	1	0	0
TMEM107	84314	broad.mit.edu	37	17	8079185	8079185	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:8079185G>A	uc002gkh.4	-	2	274	c.164C>T	c.(163-165)cCt>cTt	p.P55L	TMEM107_uc002gkg.4_Intron|TMEM107_uc002gki.4_Missense_Mutation_p.P55L|TMEM107_uc002gkj.4_Intron|TMEM107_uc002gkk.2_Intron	NM_032354	NP_115730	Q6UX40	TM107_HUMAN	Homo sapiens transmembrane protein 107 (TMEM107), transcript variant 1, mRNA.	51						integral to membrane				large_intestine(1)|lung(4)|ovary(1)	6						CCTGCAGAGAGGAAGTGGACT	0.602000														48			45		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88583472	88583472	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:88583472G>A	uc003hqv.3	+	5	646	c.542G>A	c.(541-543)gGt>gAt	p.G181D	DMP1_uc003hqw.3_Missense_Mutation_p.G165D	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	181					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CCTGAGGGAGGTGACTCCACT	0.587000														34			13		0	0	1	0	0
VSX2	338917	broad.mit.edu	37	14	74711967	74711968	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:74711967_74711968GG>AA	uc001xpq.3	+	2	645_646	c.555_556GG>AA	c.(553-558)acggag>acAAag	p.E186K		NM_182894	NP_878314	P58304	VSX2_HUMAN	Homo sapiens visual system homeobox 2 (VSX2), mRNA.	186					multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		CCATGAAAACGGAGCTGCCGGA	0.579000														55			15		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123036904	123036904	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:123036904G>A	uc003egh.2	-	10	2317	c.2317C>T	c.(2317-2319)Ctc>Ttc	p.L773F	ADCY5_uc021xdd.1_Missense_Mutation_p.L423F|ADCY5_uc003egg.2_Missense_Mutation_p.L406F|ADCY5_uc003egi.1_Missense_Mutation_p.L332F	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	773					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CAGATGAAGAGGAAGACGAGC	0.597000														83			7		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21641177	21641177	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:21641177A>T	uc003svc.3	+	17	3620	c.3589A>T	c.(3589-3591)Atc>Ttc	p.I1197F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1197	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAAGAAACGATCACCCTCTT	0.418000									Kartagener syndrome					19			9		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1251138	1251138	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1251138G>A	uc002qwq.3	+	11	1057	c.928G>A	c.(928-930)Gct>Act	p.A310T	SNTG2_uc010ewi.3_Missense_Mutation_p.A183T	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	310	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ACTCCAAGGAGCTGACTCCTC	0.498000														34			13		0	0	1	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6521818	6521818	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6521818G>A	uc001anh.3	-	9	1045	c.957C>T	c.(955-957)ccC>ccT	p.P319P	TNFRSF25_uc001ana.3_Silent_p.P127P|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_Silent_p.P83P|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Silent_p.P310P|TNFRSF25_uc001anf.3_Silent_p.P273P|TNFRSF25_uc001ang.3_Silent_p.P265P	NM_148965	NP_683866	Q93038	TNR25_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.	310					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GCGCAGCAGCGGGGCCTGGGG	0.716000														1			3		0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798992	212798992	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:212798992C>T	uc010pth.1	-	0		c.1122G>A			FAM71A_uc001hjk.3_Missense_Mutation_p.S258F			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CTCAATGCATCCATCCCCAAA	0.552000														125			53		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36273299	36273299	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36273299C>T	uc002obs.2	+	12	1254	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	ARHGAP33_uc002obr.2_Silent_p.I370I|ARHGAP33_uc002obt.2_Silent_p.I234I|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	370	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GTGAGAGGATCCCGGAGCTGT	0.612000														84			24		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64556357	64556357	+	Silent	SNP	C	T	T	rs111652000		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:64556357C>T	uc001xgl.3	+	58	11966	c.11736C>T	c.(11734-11736)atC>atT	p.I3912I	SYNE2_uc001xgm.3_Silent_p.I3912I|SYNE2_uc021ruh.1_Silent_p.I3945I|SYNE2_uc010apy.3_Silent_p.I297I|SYNE2_uc010apx.1_Silent_p.I304I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3912					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCAAAACTATCCTATTATCAA	0.279000														57			27		0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092491	151092491	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151092491C>T	uc022cgv.1	+	0	355	c.355C>T	c.(355-357)Cat>Tat	p.H119Y	MAGEA4_uc004fez.3_Missense_Mutation_p.H119Y|MAGEA4_uc004ffa.3_Missense_Mutation_p.H119Y|MAGEA4_uc004ffb.3_Missense_Mutation_p.H119Y|MAGEA4_uc022cgu.1_Missense_Mutation_p.H147Y|MAGEA4_uc004ffc.3_Missense_Mutation_p.H119Y|MAGEA4_uc004ffd.3_Missense_Mutation_p.H119Y	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	119	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTTGGCTCATTTTCTGCT	0.517000														36			39		0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954428	12954428	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12954428C>T	uc001auo.3	-	2	928	c.855G>A	c.(853-855)gaG>gaA	p.E285E		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	285										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGCAGGTGCTCCAGGTGCT	0.443000														106			15		0	0	1	0	0
FXYD5	53827	broad.mit.edu	37	19	35660507	35660507	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35660507C>T	uc002nyg.2	+	8	614	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	FXYD5_uc021usk.1_Missense_Mutation_p.R176C|FXYD5_uc002nyh.2_Missense_Mutation_p.R176C|FXYD5_uc021usl.1_Missense_Mutation_p.R176C|FXYD5_uc002nyi.2_Missense_Mutation_p.R113C|FXYD5_uc002nyj.1_Non-coding_Transcript	NM_014164	NP_659003	Q96DB9	FXYD5_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 5 (FXYD5), transcript variant 2, mRNA.	176			R -> H (in dbSNP:rs12110).		microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ATGCCGGAATCGTTGCAGGTG	0.562000														25			12		0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144359486	144359486	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:144359486C>T	uc003ijd.3	+	3	1287	c.928C>T	c.(928-930)Cct>Tct	p.P310S	GAB1_uc003ije.3_Missense_Mutation_p.P310S|GAB1_uc011chq.2_Missense_Mutation_p.P207S	NM_207123	NP_997006	Q13480	GAB1_HUMAN	Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA.	310					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TTATGACATTCCTCCAACACC	0.413000														84			31		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23236971	23236971	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:23236971C>T	uc009vqj.1	+	13	2744	c.2599C>T	c.(2599-2601)Cgc>Tgc	p.R867C	EPHB2_uc001bge.3_Missense_Mutation_p.R868C|EPHB2_uc001bgf.3_Missense_Mutation_p.R867C|EPHB2_uc010odu.2_Missense_Mutation_p.R809C	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	867	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCAGAAGGACCGCAACCACCG	0.587000														68			28		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179383	55179383	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55179383C>T	uc002qgp.3	+	11	1622	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	LILRB4_uc002qgq.3_Silent_p.L419L|LILRB4_uc010ert.3_Silent_p.L461L|LILRB4_uc010eru.3_Silent_p.L450L	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.	420						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)		GCTTTACCCTCAGACAGAAGG	0.627000														120			28		0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131670757	131670757	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131670757C>T	uc004bwl.4	+	2	1568	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	LRRC8A_uc010myp.3_Silent_p.I438I|LRRC8A_uc010myq.3_Silent_p.I438I	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	438					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TCAGTGGCATCCCTGACACTG	0.612000														26			9		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460299	107460299	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:107460299G>A	uc002tdq.3	-	1	254	c.135C>T	c.(133-135)ttC>ttT	p.F45F	ST6GAL2_uc002tdr.3_Silent_p.F45F|ST6GAL2_uc002tds.3_Silent_p.F45F	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	45					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGGTCTCCAGGAAGGAGAGGG	0.632000														47			4		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331666	70331666	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70331666G>A	uc001oqc.3	-	20	4646	c.4534C>T	c.(4534-4536)Ccc>Tcc	p.P1512S	SHANK2_uc010rqn.2_Missense_Mutation_p.P988S|SHANK2_uc001opz.3_Missense_Mutation_p.P983S|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1199					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			gcgggcggggggATAACAAAG	0.572000														102			77		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94983447	94983448	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:94983447_94983448CC>TT	uc002btj.3	+	16	2193_2194	c.2128_2129CC>TT	c.(2128-2130)ccc>TTc	p.P710F	MCTP2_uc010boj.3_Missense_Mutation_p.P439F|MCTP2_uc010bok.3_Intron|MCTP2_uc002btl.3_Missense_Mutation_p.P298F	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	710					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATATATGATCCCCTTGGCATTG	0.416000														355			47		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524919	10524919	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:10524919C>T	uc002czw.3	+	1	601	c.442C>T	c.(442-444)Cag>Tag	p.Q148*	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Nonsense_Mutation_p.Q148*|ATF7IP2_uc002czv.3_Nonsense_Mutation_p.Q148*|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TTCTGAGCATCAGACAAATGT	0.448000														127			23		0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113999622	113999622	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113999622G>A	uc010yxt.2	-	5	730	c.564C>T	c.(562-564)atC>atT	p.I188I	PAX8_uc010yxu.2_Silent_p.I188I|PAX8_uc002tjm.3_Silent_p.I188I|PAX8_uc002tjn.3_Silent_p.I188I|PAX8_uc010fku.1_Silent_p.I188I|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	188					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CAGGCTGAGCGATGCCCAGGA	0.617000			T	PPARG	follicular thyroid		Thyroid dysgenesis							19			9		0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100488880	100488880	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100488880C>T	uc003uxd.3	-	2	1789	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N	UFSP1_uc003uxc.4_5'Flank|ACHE_uc003uxe.3_Missense_Mutation_p.D545N|ACHE_uc003uxf.3_Missense_Mutation_p.D545N|ACHE_uc003uxg.3_Missense_Mutation_p.D545N|ACHE_uc003uxh.3_Missense_Mutation_p.D457N|ACHE_uc003uxi.3_Missense_Mutation_p.D545N	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	545					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GGCCGCAGGTCCAGACTAACG	0.687000														33			18		0	0	1	0	0
UBL4B	164153	broad.mit.edu	37	1	110655414	110655414	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110655414G>A	uc001dzc.3	+	0	353	c.258G>A	c.(256-258)caG>caA	p.Q86Q		NM_203412	NP_981957	Q8N7F7	UBL4B_HUMAN	Homo sapiens ubiquitin-like 4B (UBL4B), mRNA.	86						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		ACCAGCCGCAGACCCAGCCCC	0.582000														110			21		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531165	92531165	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92531165C>T	uc001pdj.4	+	8	5003	c.4986C>T	c.(4984-4986)acC>acT	p.T1662T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1662	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTCCGTCACCATGTCTGACA	0.448000										TCGA Ovarian(4;0.039)				58			33		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149502526	149502526	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149502526C>T	uc010lpk.3	+	56	8330	c.8330C>T	c.(8329-8331)tCc>tTc	p.S2777F		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2780	TSP type-1 7.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGGACTTCCTGGTCCTCC	0.667000														42			27		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38968413	38968413	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38968413G>A	uc021wvy.1	-	3	697	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	166					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAATCCCAGTGAAGACACACC	0.353000														127			11		0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113352931	113352931	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:113352931C>T	uc003ian.4	+	10	2455	c.2228C>T	c.(2227-2229)gCc>gTc	p.A743V	ALPK1_uc003iap.4_Missense_Mutation_p.A743V|ALPK1_uc011cfx.2_Missense_Mutation_p.A665V|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.A571V	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	743							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AAAGAAGAAGCCTTTGAAATA	0.468000														71			27		0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686769	54686769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54686769C>T	uc009znk.3	-	1	1021	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	NFE2_uc001sfq.3_Missense_Mutation_p.E171K|NFE2_uc001sfr.4_Missense_Mutation_p.E171K|NFE2_uc009znl.3_Missense_Mutation_p.E171K	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	171	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TCTACATATTCGCTGCGCCGC	0.562000														104			16		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19656465	19656465	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19656465G>A	uc002nmw.4	+	7	3214	c.3129G>A	c.(3127-3129)ccG>ccA	p.P1043P	CILP2_uc002nmv.4_Silent_p.P1037P	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	1037						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACCCCCCACCGGTGCCCGCGG	0.667000														16			5		0	0	1	0	0
PDIK1L	149420	broad.mit.edu	37	1	26440953	26440953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26440953C>T	uc010oew.2	+	1	427	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C	PDIK1L_uc001blj.4_Missense_Mutation_p.R52C|PDIK1L_uc009vsb.3_Missense_Mutation_p.R52C	NM_001243532	NP_001230461	Q8N165	PDK1L_HUMAN	Homo sapiens PDLIM1 interacting kinase 1 like (PDIK1L), transcript variant 2, mRNA.	52	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		ACTAGCCCTTCGTGAGTTCTG	0.458000														34			10		0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762076	23762076	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:23762076C>T	uc003zpu.3	-	1	432	c.157G>A	c.(157-159)Gag>Aag	p.E53K	ELAVL2_uc003zps.3_Missense_Mutation_p.E53K|ELAVL2_uc003zpt.3_Missense_Mutation_p.E53K|ELAVL2_uc003zpv.3_Missense_Mutation_p.E53K|ELAVL2_uc003zpw.3_Missense_Mutation_p.E53K	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	53	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TTTAGTTCCTCCTGTGTCATG	0.398000														112			19		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106478263	106478263	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106478263C>T	uc021ser.1	-	2451		c.42810G>A								Parts of antibodies, mostly variable regions.																		GCCCAATCCACTCCAGTCCCT	0.577000														59			13		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29122786	29122786	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29122786G>A	uc002kwu.4	+	13	2493	c.2305G>A	c.(2305-2307)Gaa>Aaa	p.E769K	LOC100652770_uc002kwv.4_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	769					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGCACTGAACGAAGAATTCTT	0.478000														72			23		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018542	62018542	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62018542G>A	uc002jds.1	-	23	5177	c.5100C>T	c.(5098-5100)acC>acT	p.T1700T		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1700					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T1700T(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCTCCTCCATGGTCTGCTTGA	0.587000														66			22		0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33234287	33234287	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:33234287C>T	uc001bvu.1	+	3	541	c.497C>T	c.(496-498)tCc>tTc	p.S166F	KIAA1522_uc010ohm.1_Missense_Mutation_p.S118F|KIAA1522_uc001bvv.2_Missense_Mutation_p.S107F|KIAA1522_uc010ohn.1_Missense_Mutation_p.S107F	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	107										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GACAACATCTCCTTCTGCAGT	0.562000														55			13		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20999045	20999045	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20999045C>T	uc010vbe.2	-	45	6852	c.6852G>A	c.(6850-6852)ggG>ggA	p.G2284G	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2284	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAGCAGGACCCCTTGAATCA	0.453000														46			12		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238049074	238049074	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:238049074C>T	uc001hym.3	-	6	1239	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	318	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)			ATCTGAAGTTCCAGAGTGAGG	0.502000														48			8		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43804268	43804268	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:43804268G>A	uc002rsw.4	-	9	1282	c.930C>T	c.(928-930)ctC>ctT	p.L310L	THADA_uc002rsx.4_Silent_p.L310L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_5'Flank|THADA_uc002rsz.3_Silent_p.L20L|THADA_uc002rta.2_Silent_p.L20L|THADA_uc002rtb.1_Silent_p.L310L|THADA_uc002rtc.4_Silent_p.L310L|THADA_uc002rtd.3_Silent_p.L310L	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	310							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCCCCTGACAGAGGAATAAGA	0.542000											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			6		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14533190	14533190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:14533190G>A	uc010dln.3	-	4	1379	c.925C>T	c.(925-927)Ctc>Ttc	p.L309F	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	309										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCAAGTATGAGGGCAGTTCTA	0.343000														97			28		0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183888410	183888410	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183888410C>T	uc003fms.3	+	14	2158	c.2018C>T	c.(2017-2019)cCc>cTc	p.P673L	DVL3_uc011bqw.2_Missense_Mutation_p.P656L|DVL3_uc003fmt.3_Missense_Mutation_p.P344L|DVL3_uc003fmu.3_Missense_Mutation_p.P505L	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	673					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCCCCGCCGCCCGCGGCCATG	0.726000														20			15		0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153279643	153279643	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153279643G>A	uc001fbn.1	-	1	209	c.156C>T	c.(154-156)ctC>ctT	p.L52L		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	52					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCATCCCTGGGAGCTGGTCTG	0.632000														8			6		0	0	1	0	0
SPATA4	132851	broad.mit.edu	37	4	177114160	177114160	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:177114160C>T	uc003iuo.1	-	2	525	c.416G>A	c.(415-417)gGa>gAa	p.G139E		NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN	Homo sapiens spermatogenesis associated 4 (SPATA4), mRNA.	139					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TTCAGGCACTCCAGCTTTACA	0.284000														38			17		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67124879	67124879	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:67124879G>A	uc002jhw.1	-	7	1175	c.1000C>T	c.(1000-1002)Ctc>Ttc	p.L334F		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	334					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGGGTAAGGAGAAACACAACC	0.408000														117			25		0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78432425	78432425	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:78432425G>A	uc001dii.3	-	6	515	c.426C>T	c.(424-426)ggC>ggT	p.G142G	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Silent_p.G163G	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	142	KH 1.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTTCTGGAAGGCCACCACTGT	0.323000			"""F, N"""		oligodendroglioma									43			20		0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17757553	17757553	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17757553G>A	uc009yhc.1	+	0	59	c.4G>A	c.(4-6)Ggc>Agc	p.G2S	KCNC1_uc001mnk.4_Missense_Mutation_p.G2S	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	2						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CGCCGCGATGGGCCAAGGGGA	0.761000														8			7		0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45557701	45557701	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:45557701C>T	uc003cop.1	+	16	2162	c.1977C>T	c.(1975-1977)atC>atT	p.I659I	LARS2_uc010hit.1_Silent_p.I616I	NM_015340	NP_056155	Q15031	SYLM_HUMAN	Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA.	659					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGTATGGGATCGACACGATTC	0.483000														99			42		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76464930	76464930	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76464930C>T	uc010dhp.2	-	54	8672	c.8547G>A	c.(8545-8547)gtG>gtA	p.V2849V	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAACGTTCTTCACGGCAGCCT	0.542000														49			20		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52496389	52496389	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:52496389C>T	uc001wzo.3	-	9	2511	c.2277G>A	c.(2275-2277)ccG>ccA	p.P759P	NID2_uc010tqs.2_Silent_p.P759P|NID2_uc010tqt.1_Silent_p.P759P|NID2_uc001wzp.3_Silent_p.P759P	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	759	EGF-like 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AAGGATTCCCCGGAGTGGGGT	0.517000														40			8		0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5655066	5655066	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5655066G>A	uc001mbh.3	+	2	613	c.456G>A	c.(454-456)aaG>aaA	p.K152K	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Silent_p.K506K|TRIM6-TRIM34_uc001mbi.3_Silent_p.K152K|TRIM6-TRIM34_uc001mbj.3_Silent_p.K152K	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	506						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AGAGGCTGAAGAAGGAAGAGG	0.453000														53			9		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108813814	108813814	+	Silent	SNP	G	A	A	rs145413382		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108813814G>A	uc003dxl.3	-	6	612	c.525C>T	c.(523-525)tcC>tcT	p.S175S	MORC1_uc011bhn.2_Silent_p.S175S	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	175					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.S175F(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTTAAATGGGGAGTATTTAT	0.343000														41			15		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54901636	54901636	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54901636G>A	uc001sgc.4	+	4	386	c.307_splice	c.e4-1	p.D103_splice	NCKAP1L_uc010sox.2_Splice_Site|NCKAP1L_uc010soy.2_Splice_Site_p.D53_splice	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	103					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCCACCCCCAGGATCATGTAT	0.413000														163			51		0	0	1	0	0
PSMD9	5715	broad.mit.edu	37	12	122353804	122353804	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:122353804C>T	uc001ubl.3	+	4	715	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	WDR66_uc009zxk.3_5'Flank|PSMD9_uc009zxj.3_Non-coding_Transcript|WDR66_uc021rfh.1_5'Flank	NM_002813	NP_002804	O00233	PSMD9_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 (PSMD9), mRNA.	200					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GGAAAAACACCAGCTTAGACT	0.468000														27			4		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559123	140559123	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140559123C>T	uc011dai.2	+	0	1753	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	503	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCGCCTCCCTGGTCTCC	0.667000														314			59		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75831063	75831063	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:75831063G>A	uc021zbv.1	-	42	7076	c.7041C>T	c.(7039-7041)ttC>ttT	p.F2347F	COL12A1_uc021zbw.1_Silent_p.F1183F|COL12A1_uc003phs.3_Silent_p.F2347F|COL12A1_uc003pht.3_Silent_p.F1183F	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2347	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCACAGTATTGAAGATGAATT	0.438000														78			12		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8621299	8621299	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:8621299C>T	uc003glm.3	+	10	2088	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.F627F|CPZ_uc003gln.3_Silent_p.F501F	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	638					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGTCCTACTTCACATCGCTGA	0.701000														33			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9014585	9014585	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9014585C>T	uc002mkp.3	-	30	38594	c.38390G>A	c.(38389-38391)gGc>gAc	p.G12797D	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12799	SEA 5.			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						CTCTTTGATGCCATTGGTCAG	0.557000														181			47		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167645876	167645876	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:167645876C>T	uc010jjd.3	+	22	4953	c.4953C>T	c.(4951-4953)acC>acT	p.T1651T	ODZ2_uc003lzr.4_Silent_p.T1421T|ODZ2_uc003lzt.4_Silent_p.T1024T|ODZ2_uc010jje.3_Silent_p.T915T	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)		TCACCCTCACCGTGGGCACCA	0.552000														141			29		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74013916	74013916	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74013916C>T	uc010wss.1	-	13	1908	c.1680G>A	c.(1678-1680)ctG>ctA	p.L560L	EVPL_uc002jqi.2_Silent_p.L538L|EVPL_uc010wst.1_Silent_p.L8L	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	538	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTATCTGTCCCAGGTCTCCAT	0.672000														53			21		0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84257443	84257443	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:84257443G>A	uc002bjw.3	+	7	953	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	SH3GL3_uc010uot.1_Missense_Mutation_p.R253Q|SH3GL3_uc002bjx.3_Missense_Mutation_p.R184Q|SH3GL3_uc002bju.3_Missense_Mutation_p.R261Q|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	253	Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GTCCCCAGACGAGAATACAAG	0.458000														79			14		0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751374	26751374	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:26751374C>T	uc003cdp.3	+	1	800	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	LRRC3B_uc003cdq.3_Silent_p.L71L|LRRC3B_uc021wuj.1_Silent_p.L71L	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	71						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CTTACTGTATCTGGACTCCAA	0.403000														49			16		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404228	197404228	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197404228G>A	uc001gtz.3	+	8	3444	c.3235G>A	c.(3235-3237)Gat>Aat	p.D1079N	CRB1_uc010poz.2_Missense_Mutation_p.D1055N|CRB1_uc009wza.3_Missense_Mutation_p.D967N|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.D560N|CRB1_uc001gub.1_Missense_Mutation_p.D728N	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1079	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGATAATACAGATATTTATGT	0.418000														109			19		0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58189862	58189862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58189862C>T	uc010rkg.2	-	0	925	c.873G>A	c.(871-873)agG>agA	p.R291R		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTTCTCTGTTCCTCAGGCTGT	0.418000														62			32		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060477	54060477	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:54060477G>A	uc001cvr.1	-	2	666	c.99C>T	c.(97-99)acC>acT	p.T33T		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	33					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AAGGCGCAGGGGTGGCGAGGC	0.721000														21			3		0	0	1	0	0
IL28RA	163702	broad.mit.edu	37	1	24483700	24483700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24483700C>T	uc001bis.3	-	6	1510	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N	IL28RA_uc001bir.3_Missense_Mutation_p.D466N|IL28RA_uc001bit.3_3'UTR|IL28RA_uc001biu.3_Missense_Mutation_p.D411N	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.	495					cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4)	16		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		CTGCCCGCATCGCTGTCCTCA	0.627000														57			11		0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031521	56031521	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56031521C>T	uc010spq.2	+	0	846	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						ACACAGTCATCACACCCATGC	0.582000														69			17		0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127768553	127768553	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:127768553C>T	uc011ebs.2	-	4	1247	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	KIAA0408_uc003qbc.3_Missense_Mutation_p.R304Q|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_5'Flank|KIAA0408_uc003qbb.3_Missense_Mutation_p.R187Q	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	304							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CCTTTTACTTCGACCCTCATG	0.433000														40			53		0	0	1	0	0
LOC100288778	100288778	broad.mit.edu	37	12	90925	90925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:90925C>T	uc010scy.2	+	9	1346	c.791C>T	c.(790-792)tCc>tTc	p.S264F	LOC100288778_uc010scz.2_Non-coding_Transcript|LOC100288778_uc010sdd.2_3'UTR|LOC100288778_uc010sde.2_Missense_Mutation_p.S264F|LOC100288778_uc010sdf.2_Missense_Mutation_p.S264F|LOC100288778_uc010sdg.2_Missense_Mutation_p.S264F|LOC100288778_uc010sdh.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 1 pseudogene (LOC100288778), non-coding RNA.																		GACTGGGAATCCTAGGGGGCT	0.647000														31			9		0	0	1	0	0
abParts	0	broad.mit.edu	37	15	22473075	22473075	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22473075C>T	uc001yuj.2	-	6		c.253G>A								Parts of antibodies, mostly variable regions.																		CCAATCCACTCCAGCCCCTTC	0.572000														233			26		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64447723	64447723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:64447723G>A	uc003jtp.3	-	24	4108	c.3294C>T	c.(3292-3294)ttC>ttT	p.F1098F	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	1098	PLAC.				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)		TGCAGAACTTGAACTTCAGCA	0.443000														114			19		0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103866850	103866850	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:103866850G>A	uc001phq.3	-	2	825	c.453C>T	c.(451-453)ttC>ttT	p.F151F	PDGFD_uc001php.3_Silent_p.F145F	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	151	CUB.				positive regulation of cell division	Golgi membrane|endoplasmic reticulum lumen|extracellular region	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CATCGGACTTGAATGTGATTT	0.368000														121			8		0	0	1	0	0
THAP4	51078	broad.mit.edu	37	2	242573389	242573389	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242573389G>A	uc002wbt.3	-	1	476	c.183C>T	c.(181-183)acC>acT	p.T61T		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	61							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		AGCTGTCTTTGGTGAAATGCT	0.512000														133			65		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42482862	42482862	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42482862G>A	uc002osh.3	-	11	1680	c.1526C>T	c.(1525-1527)tCc>tTc	p.S509F	ATP1A3_uc010xwf.2_Missense_Mutation_p.S520F|ATP1A3_uc010xwg.2_Missense_Mutation_p.S479F|ATP1A3_uc002osg.3_Missense_Mutation_p.S509F|ATP1A3_uc010xwh.2_Missense_Mutation_p.S522F			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	509					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CAGGATGGTGGAGCAGCGGTC	0.627000														86			43		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128342354	128342354	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:128342354G>A	uc002top.3	+	14	1608	c.1555_splice	c.e14-1	p.G519_splice		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	519	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TTCTTCCAGGGGACAGATCTC	0.567000														65			31		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416200	86416200	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:86416200G>A	uc003uid.3	+	2	2191	c.1092G>A	c.(1090-1092)caG>caA	p.Q364Q	GRM3_uc010lef.3_Silent_p.Q362Q|GRM3_uc010leg.3_Silent_p.Q236Q|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	364					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)	GCAGCCTCCAGAACAAACGCA	0.567000														43			20		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	166958637	166958637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:166958637C>T	uc011bpc.2	-	21	2801	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	ZBBX_uc003feq.3_Missense_Mutation_p.E754K|ZBBX_uc003fep.3_Missense_Mutation_p.E783K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	783						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AGAAAATCTTCCTCCTCCTCA	0.368000														81			38		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171055856	171055856	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:171055856G>A	uc002ufy.3	+	1	284	c.141G>A	c.(139-141)aaG>aaA	p.K47K	MYO3B_uc002ufv.3_Silent_p.K34K|MYO3B_uc010fqb.1_Silent_p.K47K|MYO3B_uc002ufz.3_Silent_p.K47K|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Silent_p.K34K	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	47	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity	p.K47fs*16(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TAACTAACAAGAGAGATGGGA	0.418000														48			9		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101868335	101868335	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:101868335G>A	uc001pgm.3	+	10	3585	c.3315G>A	c.(3313-3315)aaG>aaA	p.K1105K	KIAA1377_uc001pgn.3_Silent_p.K1061K|KIAA1377_uc010run.2_Silent_p.K906K	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	1105							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TCCAGGAGAAGAGAGAAGATA	0.428000														78			7		0	0	1	0	0
CD48	962	broad.mit.edu	37	1	160648910	160648910	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160648910C>T	uc001fwn.3	-	3	696	c.664G>A	c.(664-666)Gga>Aga	p.G222R		NM_001778	NP_001769	P09326	CD48_HUMAN	Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.	222					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CATTCTACTCCAAAGGACCGG	0.453000														48			17		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60069930	60069930	+	Splice_Site	SNP	C	T	T	rs11559108		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:60069930C>T	uc001xen.1	-	7	2438	c.2229_splice	c.e7+1	p.Q743_splice	RTN1_uc001xem.1_Splice_Site_p.Q323_splice|RTN1_uc001xek.2_Splice_Site_p.Q175_splice|RTN1_uc010apl.2_Splice_Site_p.Q160_splice	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	743	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.Q743H(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TAGAACTTACCTGGTGCTTAA	0.318000														42			20		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432511	140432511	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140432511C>T	uc003lik.1	+	0	1533	c.1456C>T	c.(1456-1458)Caa>Taa	p.Q486*		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	486	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGAATGCCCAAATAACATA	0.423000														55			13		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47921602	47921602	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:47921602G>A	uc003tny.2	-	19	3381	c.3347C>T	c.(3346-3348)cCc>cTc	p.P1116L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1116	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGACAGGGAGGGGTCCACCAG	0.567000														62			23		0	0	1	0	0
RNASE3	6037	broad.mit.edu	37	14	21359902	21359902	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21359902G>A	uc021roq.1	+	0	57	c.57G>A	c.(55-57)atG>atA	p.M19I	RNASE3_uc001vyj.3_Missense_Mutation_p.M19I	NM_002935	NP_002926	P12724	ECP_HUMAN	Homo sapiens ribonuclease, RNase A family, 3 (RNASE3), mRNA.	19					RNA catabolic process|defense response to bacterium	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TGGGGCTTATGGGTGTGGAGG	0.512000														149			66		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121061450	121061450	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121061450C>T	uc010rzo.2	+	22	6403	c.6403C>T	c.(6403-6405)Ctt>Ttt	p.L2135F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	2135					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.L2135delL(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGTCTGGACGCTTCTTCTCAT	0.383000														32			15		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82034431	82034431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:82034431G>A	uc002fgu.3	-	1	161	c.33C>T	c.(31-33)gtC>gtT	p.V11V		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	11					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CTGTAATGAGGACACTTTCCT	0.378000														54			15		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78380676	78380676	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:78380676C>T	uc001ozl.4	-	31	7177	c.6714G>A	c.(6712-6714)cgG>cgA	p.R2238R	ODZ4_uc001ozk.4_Silent_p.R463R	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2238					signal transduction	integral to membrane		p.R2238L(1)		breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GGATGTCATACCGTAGTGGTG	0.557000														109			62		0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	422388	422388	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:422388G>A	uc002loq.4	-	10	1378	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S		NM_012435	NP_036567	P98077	SHC2_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 2 (SHC2), mRNA.	460	CH1.				Ras protein signal transduction|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TCCTCCAAGGGAAGAGGGGCT	0.687000														10			6		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77671544	77671544	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:77671544C>T	uc011bgk.2	+	23	4376	c.3733C>T	c.(3733-3735)Cct>Tct	p.P1245S	ROBO2_uc021xat.1_Missense_Mutation_p.P1257S|ROBO2_uc003dpy.4_Missense_Mutation_p.P1241S|ROBO2_uc003dpz.3_Missense_Mutation_p.P1245S|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1241					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGACCAGACTCCTGGATCCAG	0.448000														43			19		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50329519	50329519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:50329519C>T	uc002xwg.1	-	3	422	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	ATP9A_uc010gih.1_Missense_Mutation_p.R126Q	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	141					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGCTGTGAGCCGGCTGTAGAC	0.637000											OREG0026044	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			6		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57372396	57372396	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57372396G>A	uc001cyo.2	+	7	1285	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	385	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CATTCAATATGAAGACAAAAT	0.388000														124			73		0	0	1	0	0
CYP21A2	1589	broad.mit.edu	37	6	32008204	32008204	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32008204G>A	uc003nze.2	+	7	1068	c.961G>A	c.(961-963)Gag>Aag	p.E321K	CYP21A2_uc003nzf.2_Missense_Mutation_p.E291K	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	320					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						ACTGCAGGAGGAGCTAGACCA	0.662000														38			13		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160016608	160016608	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:160016608C>T	uc003lym.1	-	23	4588	c.3741G>A	c.(3739-3741)atG>atA	p.M1247I	ATP10B_uc010jit.1_Missense_Mutation_p.M497I	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	1247					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(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCATGTCTTCATTTCCATTG	0.443000														52			7		0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109411018	109411018	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:109411018C>T	uc002ten.1	+	4	477	c.417C>T	c.(415-417)acC>acT	p.T139T	CCDC138_uc002teo.1_Silent_p.T139T|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.	139										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CTAATACGACCTCATCGAGAC	0.388000														75			29		0	0	1	0	0
LOC389705	389705	broad.mit.edu	37	9	15001633	15001633	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:15001633G>A	uc010mid.1	+	3		c.412_splice	c.e3-1		AK127963_uc003zln.1_Intron					Homo sapiens chromosome 4 open reading frame 27 pseudogene (LOC389705), non-coding RNA.																		CTCAAACAGGGATTCTCCTGA	0.318000														68			39		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124050683	124050683	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124050683C>T	uc001lgc.1	+	6	815	c.564C>T	c.(562-564)atC>atT	p.I188I	BTBD16_uc001lgd.1_Silent_p.I187I	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	188	BTB.									breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCGCCCACATCCTCCAGTTCA	0.577000														86			32		0	0	1	0	0
PODXL2	50512	broad.mit.edu	37	3	127379289	127379290	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:127379289_127379290CC>TT	uc003ejq.2	+	2	442_443	c.418_419CC>TT	c.(418-420)cca>TTa	p.P140L		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	Homo sapiens podocalyxin-like 2 (PODXL2), mRNA.	140					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						TCAAGAGCTGCCAAACCTCCCC	0.500000														64			13		0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39717177	39717177	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:39717177C>T	uc001wux.3	+	3	1593	c.1399C>T	c.(1399-1401)Cct>Tct	p.P467S	MIA2_uc010amy.2_Missense_Mutation_p.P398S	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	467						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TTTTGACAACCCTTGGAACTT	0.323000														83			40		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106121808	106121808	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106121808G>A	uc001kyh.3	+	2	453	c.319G>A	c.(319-321)Gac>Aac	p.D107N		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	107										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAAGATGGTGGACTCAGCCTA	0.458000														49			17		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33466326	33466326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:33466326G>A	uc003zsz.3	-	16	2290	c.2189C>T	c.(2188-2190)gCc>gTc	p.A730V	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Missense_Mutation_p.A727V|NOL6_uc011lob.2_Missense_Mutation_p.A678V|NOL6_uc003ztb.1_Missense_Mutation_p.A730V	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	730					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CTCCACGTAGGCCGGACAGGG	0.612000											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		97			27		0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36459857	36459857	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:36459857G>A	uc003tff.3	+	10	2153	c.1949G>A	c.(1948-1950)aGa>aAa	p.R650K	ANLN_uc011kaz.2_Missense_Mutation_p.R562K|ANLN_uc003tfg.3_Missense_Mutation_p.R613K|ANLN_uc010kxe.3_Missense_Mutation_p.R612K	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	650	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	p.Q649R(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AAATTCCAAAGAACTCGTGTC	0.433000														82			27		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52619652	52619652	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:52619652C>T	uc001jjj.3	-	2	237	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	A1CF_uc010qho.2_5'UTR|A1CF_uc010qhn.2_5'UTR|A1CF_uc009xov.3_Missense_Mutation_p.E17K|A1CF_uc001jji.3_Missense_Mutation_p.E17K|A1CF_uc001jjh.3_5'UTR|A1CF_uc001jjk.1_Missense_Mutation_p.E17K	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	17					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E17D(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AGGGCTGCTTCCTTCTGAGTG	0.483000														54			36		0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1389508	1389508	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1389508C>T	uc002clk.2	+	4	575	c.417C>T	c.(415-417)ctC>ctT	p.L139L	BAIAP3_uc010uuz.2_Silent_p.L104L|BAIAP3_uc010uva.2_Intron|BAIAP3_uc021tag.1_Intron|BAIAP3_uc002clj.3_Silent_p.L121L|BAIAP3_uc010uvb.2_Silent_p.L156L|BAIAP3_uc010uvc.1_Silent_p.L104L	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	139					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGGAGATGCTCTACGAGGAGG	0.682000														13			7		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038981	75038981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75038981G>A	uc001dgg.3	-	13	2632	c.2413C>T	c.(2413-2415)Cat>Tat	p.H805Y		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	805	Glu-rich.									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						GGAGCCTCATGAACAGCTCCT	0.537000														123			47		0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123264747	123264747	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:123264747C>T	uc003vku.1	+	7	868	c.576C>T	c.(574-576)atC>atT	p.I192I	ASB15_uc003vkv.1_Silent_p.I192I|ASB15_uc003vkw.1_Silent_p.I192I	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	192					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAAAAGATATCGTAGCTCTGC	0.517000											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		84			23		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75740713	75740713	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75740713C>T	uc010oqz.1	-	4	373	c.307G>A	c.(307-309)Gac>Aac	p.D103N	SLC44A5_uc001dgt.2_Missense_Mutation_p.D64N|SLC44A5_uc001dgs.2_Missense_Mutation_p.D22N|SLC44A5_uc001dgr.2_Missense_Mutation_p.D22N|SLC44A5_uc001dgu.3_Missense_Mutation_p.D64N|SLC44A5_uc010ora.2_Missense_Mutation_p.D58N|SLC44A5_uc010orb.2_Intron	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	64						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.P103S(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CTTCTGGGGTCCCCATGTACC	0.493000														27			5		0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89524656	89524656	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:89524656C>T	uc001dmx.2	-	4	719	c.499G>A	c.(499-501)Gat>Aat	p.D167N		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	167					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TCAGCTGAATCCTCAACCTCA	0.453000														74			40		0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	6023659	6023659	+	Missense_Mutation	SNP	C	T	T	rs148765035		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:6023659C>T	uc010cli.3	+	8	1785	c.1406C>T	c.(1405-1407)tCg>tTg	p.S469L	WSCD1_uc002gcn.3_Missense_Mutation_p.S469L|WSCD1_uc002gco.3_Missense_Mutation_p.S469L|WSCD1_uc010clj.3_Missense_Mutation_p.S160L	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	469						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						AGCTACGCCTCGTGGTGGTCC	0.672000														80			55		0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46704372	46704372	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:46704372C>T	uc011aqy.2	+	3	506	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GTSE1_uc011aqz.2_5'UTR	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	79					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GGGAGAAGTTCGTGGAGGTGT	0.567000														151			55		0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121304974	121304974	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121304974C>T	uc003eef.3	+	4	570	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	159						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GCCCACCTCCCCCAGAACATC	0.493000														85			52		0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237944	56237944	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56237944G>A	uc010rjk.2	-	0	71	c.30C>T	c.(28-30)ttC>ttT	p.F10F	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CCAAAAGAATGAACTCTGTCA	0.363000														67			18		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161292786	161292786	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:161292786C>T	uc010jiw.3	+	4	715	c.247C>T	c.(247-249)Cat>Tat	p.H83Y	GABRA1_uc010jix.3_Missense_Mutation_p.H83Y|GABRA1_uc010jiy.3_Missense_Mutation_p.H83Y|GABRA1_uc003lyx.4_Missense_Mutation_p.H83Y|GABRA1_uc010jiz.3_Missense_Mutation_p.H83Y|GABRA1_uc010jja.3_Missense_Mutation_p.H83Y|GABRA1_uc010jjb.3_Missense_Mutation_p.H83Y	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	83					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CGTTTCAGACCATGATATGGT	0.388000														136			52		0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37453613	37453613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:37453613G>A	uc001uvw.3	-	1	557	c.214C>T	c.(214-216)Ccc>Tcc	p.P72S	SMAD9_uc001uvx.3_Missense_Mutation_p.P72S|SMAD9_uc010tep.2_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	72	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGGGAGCGGGGAATCGTGACG	0.627000														64			14		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857389	9857389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:9857389C>T	uc010uym.2	-	13	4322	c.4012G>A	c.(4012-4014)Ggg>Agg	p.G1338R	GRIN2A_uc002czo.4_Missense_Mutation_p.G1338R|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1338					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTTTTTTTCCCCGAGAGTTTG	0.547000														83			17		0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327383	52327383	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52327383C>T	uc002pxt.1	+	1	566	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	FPR3_uc021uyq.1_Silent_p.L128L	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	128					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TATTTGTGTCCTGCATCCAGC	0.468000														63			31		0	0	1	0	0
NOMO2	283820	broad.mit.edu	37	16	18544465	18544465	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:18544465G>A	uc002dfe.3	-	11	1329	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	NOMO2_uc002dff.3_Silent_p.F419F|NOMO2_uc010bvx.3_Silent_p.F252F	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	Homo sapiens NODAL modulator 2 (NOMO2), transcript variant 1, mRNA.	419						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CGGTGTCCGGGAAGCGAATGA	0.453000														154			35		0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033272	41033272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41033272C>T	uc021wjj.1	+	0	786	c.786C>T	c.(784-786)tcC>tcT	p.S262S	B3GALT5_uc002yyb.1_Silent_p.S262S|B3GALT5_uc002yye.2_Silent_p.S262S|B3GALT5_uc002yyi.1_Silent_p.S262S|B3GALT5_uc002yyj.1_Silent_p.S262S|B3GALT5_uc002yyk.1_Silent_p.S262S|B3GALT5_uc002yyl.1_Silent_p.S262S|B3GALT5_uc002yym.1_Silent_p.S262S	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA.	262					protein glycosylation	Golgi membrane|endoplasmic reticulum|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				AGCTCCACTCCCAGCCGACCT	0.532000														96			58		0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113233182	113233182	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113233182C>T	uc001pnv.3	+	18	1797	c.1692C>T	c.(1690-1692)gcC>gcT	p.A564A	TTC12_uc001pnu.3_Silent_p.A558A|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Silent_p.A408A	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	558							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TTGAGGAGGCCTTGCGAGCAG	0.418000														70			33		0	0	1	0	0
IL13	3596	broad.mit.edu	37	5	131995954	131995954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:131995954C>T	uc003kxj.1	+	3	435	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C		NM_002188	NP_002179	P35225	IL13_HUMAN	Homo sapiens interleukin 13 (IL13), mRNA.	141					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAACTTTTTCGCGAGGGACA	0.418000														60			18		0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	78458888	78458888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:78458888C>T	uc002ffk.3	+	6	1076	c.727C>T	c.(727-729)Ctc>Ttc	p.L243F	WWOX_uc002ffl.3_Intron|WWOX_uc010che.3_Intron|WWOX_uc010vnk.2_Missense_Mutation_p.L130F	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	Homo sapiens WW domain containing oxidoreductase (WWOX), transcript variant 1, mRNA.	243	Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).				Wnt receptor signaling pathway|apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TGTCCAGCTCCTCCAGGATGT	0.517000														159			53		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566086	5566086	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5566086G>A	uc010qzh.2	-	0	668	c.668C>T	c.(667-669)gCt>gTt	p.A223V	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTAGGAAACAGCAATGAGAAT	0.507000														41			21		0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89653510	89653510	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89653510C>T	uc002fnp.3	+	11	1282	c.1152_splice	c.e11+1	p.T384_splice	CPNE7_uc002fnq.3_Splice_Site_p.T309_splice	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	384	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TCCACTTCACCGTGAGTCCAT	0.721000														2			4		0	0	1	0	0
TMEM184A	202915	broad.mit.edu	37	7	1587388	1587388	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:1587388C>T	uc003skv.4	-	7	1319	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E	TMEM184A_uc003skt.4_Silent_p.E313E|TMEM184A_uc021zyr.1_Silent_p.E139E	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	334						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTGGTGAATTCTCCTTCTTCT	0.637000														22			6		0	0	1	0	0
QPRT	23475	broad.mit.edu	37	16	29706093	29706093	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:29706093C>T	uc002dto.3	+	1	200	c.122C>T	c.(121-123)cCc>cTc	p.P41L	BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.2_Intron	NM_014298	NP_055113	Q15274	NADC_HUMAN	Homo sapiens quinolinate phosphoribosyltransferase (QPRT), mRNA.	41					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	GGGGCAGGCCCCTCGCAGGCG	0.652000														73			19		0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715464	92715464	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92715464G>A	uc001pdk.1	+	1	1178	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	359					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.Q358E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GCAGCACCAGGCAGATGCTCT	0.592000														42			20		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50895042	50895042	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50895042G>A	uc003blh.3	-	29	4160	c.3965C>T	c.(3964-3966)tCc>tTc	p.S1322F	SBF1_uc003ble.3_5'Flank|SBF1_uc011arx.2_Missense_Mutation_p.S960F	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1296	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AGCTAGCCGGGAGCCCACATC	0.677000														16			6		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12978676	12978676	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12978676C>T	uc002mvm.3	+	19	2579	c.2451C>T	c.(2449-2451)gcC>gcT	p.A817A		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	817					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGGATGAGGCCCGGCTGCGCA	0.731000														18			3		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197298127	197298127	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:197298127C>T	uc002utm.1	-	1	204	c.21G>A	c.(19-21)gaG>gaA	p.E7E		NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	7					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AAAGCAGGTGCTCCCGGGCTG	0.522000														53			21		0	0	1	0	0
GPT2	84706	broad.mit.edu	37	16	46943652	46943652	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:46943652C>T	uc002eel.3	+	5	727	c.633C>T	c.(631-633)atC>atT	p.I211I	GPT2_uc002eem.3_Silent_p.I111I	NM_133443	NP_001135938	Q8TD30	ALAT2_HUMAN	Homo sapiens glutamic pyruvate transaminase (alanine aminotransferase) 2 (GPT2), transcript variant 1, mRNA.	211					2-oxoglutarate metabolic process|L-alanine metabolic process|cellular amino acid biosynthetic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.I211I(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTGTGATGATCCCCATCCCAC	0.537000														73			23		0	0	1	0	0
POLR1E	64425	broad.mit.edu	37	9	37486584	37486584	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:37486584C>T	uc003zzz.1	+	0	435	c.147C>T	c.(145-147)ttC>ttT	p.F49F	POLR1E_uc011lqj.1_Intron|POLR1E_uc003zzy.1_Intron|POLR1E_uc011lqk.1_Intron	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN	Homo sapiens polymerase (RNA) I polypeptide E, 53kDa (POLR1E), mRNA.	49					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		ACCCGAGCTTCCTTGCCATCC	0.582000														11			11		0	0	1	0	0
FAM55A	120400	broad.mit.edu	37	11	114392968	114392968	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:114392968C>T	uc001ppa.3	-	5	1357	c.940G>A	c.(940-942)Ggt>Agt	p.G314S	FAM55A_uc010rxd.2_Missense_Mutation_p.G163S	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.	456						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		TTTTGAACACCGATGGCCCTG	0.438000														142			13		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19634720	19634720	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:19634720C>T	uc002wrl.3	+	6	824	c.627C>T	c.(625-627)tcC>tcT	p.S209S		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	209						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGCTCTTTCCTCCTGGTGCC	0.507000														78			11		0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172504301	172504301	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:172504301C>T	uc003fii.2	+	16	1889	c.1751C>T	c.(1750-1752)gCt>gTt	p.A584V	ECT2_uc010hwv.1_Missense_Mutation_p.A615V|ECT2_uc003fih.2_Missense_Mutation_p.A583V|ECT2_uc003fij.1_Missense_Mutation_p.A584V|ECT2_uc003fik.1_Missense_Mutation_p.A584V|ECT2_uc003fil.1_Missense_Mutation_p.A615V	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	584	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAGCATACAGCTGATGAAAAT	0.318000														38			9		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115973129	115973129	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115973129G>A	uc001lbg.1	+	14	2009	c.1856G>A	c.(1855-1857)tGg>tAg	p.W619*	TDRD1_uc001lbf.3_Nonsense_Mutation_p.W553*|TDRD1_uc001lbh.1_Nonsense_Mutation_p.W610*|TDRD1_uc001lbi.1_Nonsense_Mutation_p.W610*|TDRD1_uc010qsc.2_Nonsense_Mutation_p.W223*|TDRD1_uc001lbj.3_Nonsense_Mutation_p.W328*	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	619					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTAGGAATTTGGACTCCAGAA	0.358000														93			19		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72992610	72992610	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:72992610C>T	uc002fck.3	-	1	2108	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	479	Poly-Glu.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				tcctcctcctcttcttcctcc	0.592000														50			10		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183104895	183104896	+	Missense_Mutation	DNP	CC	TT	TT	rs145482728		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:183104895_183104896CC>TT	uc002uos.3	-	3	423_424	c.339_340GG>AA	c.(337-342)gaggaa>gaAAaa	p.E114K	PDE1A_uc010zfp.1_Missense_Mutation_p.E10K|PDE1A_uc002uoq.1_Missense_Mutation_p.E114K|PDE1A_uc010zfq.1_Missense_Mutation_p.E114K|PDE1A_uc002uor.3_Missense_Mutation_p.E98K|PDE1A_uc002uou.3_Missense_Mutation_p.E80K	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	114					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E114K(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTTGGTTTTTCCTCAGGTTTCT	0.416000														111			31		0	0	1	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021535	46021535	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46021535C>T	uc002zfn.4	+	1	1024	c.999C>T	c.(997-999)tcC>tcT	p.S333S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	338	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCCCCACCTCCTCCTGCCAGG	0.716000														69			22		0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113270348	113270348	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113270348C>T	uc001pny.3	+	7	1751	c.1657C>T	c.(1657-1659)Cct>Tct	p.P553S		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	553							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TGGAGCGGTCCCTGATGCCCT	0.597000														8			6		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76454647	76454647	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76454647C>T	uc010dhp.2	-	62	10102	c.9977_splice	c.e62+1	p.R3326_splice	DNAH17_uc002jvs.3_Splice_Site	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGCTGATACCTGTTCGCCAG	0.562000														76			41		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34851459	34851459	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:34851459G>A	uc003teh.1	+	3	590	c.462G>A	c.(460-462)atG>atA	p.M154I	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.M154I|NPSR1_uc010kwt.1_Missense_Mutation_p.M1I|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Missense_Mutation_p.M154I|NPSR1_uc010kww.1_Missense_Mutation_p.M143I|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	154						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TCTACCCCATGAAGTTCCTTC	0.458000														113			44		0	0	1	0	0
CYS1	192668	broad.mit.edu	37	2	10199021	10199021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:10199021C>T	uc002rag.2	-	2	624	c.436G>A	c.(436-438)Gag>Aag	p.E146K		NM_001037160	NP_001032237	Q717R9	CYS1_HUMAN	Homo sapiens cystin 1 (CYS1), mRNA.	146						cilium axoneme				large_intestine(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.166)|OV - Ovarian serous cystadenocarcinoma(76;0.227)		ATCAGCCCCTCTTCCGAGTGG	0.677000														5			8		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189455532	189455532	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:189455532C>T	uc003fry.2	+	1	155	c.66C>T	c.(64-66)ttC>ttT	p.F22F	TP63_uc003frx.2_Silent_p.F22F|TP63_uc003frz.2_Silent_p.F22F|TP63_uc010hzc.1_Silent_p.F22F	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	22	Transcription activation.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTTTAAGTTTCGTAGAAACCC	0.348000										HNSCC(45;0.13)				96			27		0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123901221	123901221	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123901221C>T	uc001pzp.1	+	0	892	c.892C>T	c.(892-894)Ctg>Ttg	p.L298L		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAAGAAAGCTCTGTTGAAGCT	0.448000														78			39		0	0	1	0	0
ADRA2B	151	broad.mit.edu	37	2	96780804	96780804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:96780804C>T	uc021vlh.1	-	0	1085	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	365				QL -> HV (in Ref. 1 and 2).	activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GCGCTTCTCCCGGGTCAGCTG	0.657000														32			6		0	0	1	0	0
LYSMD1	388695	broad.mit.edu	37	1	151134286	151134286	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151134286G>A	uc001ewy.3	-	1	1107	c.471C>T	c.(469-471)ttC>ttT	p.F157F	SCNM1_uc021oyk.1_Intron|LYSMD1_uc010pcr.2_Silent_p.F109F	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 1 (LYSMD1), transcript variant 1, mRNA.	157					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTTCTTAAGGAAATCAGAGG	0.507000														106			60		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305645	54305645	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54305645G>A	uc021smr.1	+	0	545	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	UNC13C_uc021sms.1_Missense_Mutation_p.R182Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	182					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R182Q(1)		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)		GGAGCTTTACGAAAACTGAGA	0.458000														98			39		0	0	1	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41621801	41621801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:41621801C>T	uc003azo.3	+	11	1414	c.1360C>T	c.(1360-1362)Ctc>Ttc	p.L454F	L3MBTL2_uc010gyi.1_Missense_Mutation_p.L363F|L3MBTL2_uc003azn.3_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA.	454					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCCCCAGGTTCTCCTGGATGG	0.592000														44			16		0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116073768	116073768	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:116073768C>T	uc001lbn.3	-	6	955	c.654G>A	c.(652-654)gtG>gtA	p.V218V	AFAP1L2_uc001lbo.3_Silent_p.V218V|AFAP1L2_uc010qse.2_Silent_p.V271V|AFAP1L2_uc001lbp.3_Silent_p.V246V|AFAP1L2_uc001lbr.1_Silent_p.V218V	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	218	PH 1.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CCAGTAGGTTCACGTCCAGCT	0.552000														57			18		0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148916196	148916196	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:148916196C>T	uc003ewy.4	-	8	1924	c.1671G>A	c.(1669-1671)atG>atA	p.M557I	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.M338I|CP_uc003ewz.3_Missense_Mutation_p.M557I|CP_uc010hvf.1_Missense_Mutation_p.M283I	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	557	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TGCATATTTTCATTGGCCCAA	0.378000														77			31		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63517664	63517664	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63517664C>T	uc001nxq.3	+	3	2919	c.2732C>T	c.(2731-2733)cCa>cTa	p.P911L	RTN3_uc001nxp.3_Missense_Mutation_p.P115L|RTN3_uc009yov.3_Missense_Mutation_p.P799L|RTN3_uc010rmt.2_Non-coding_Transcript|RTN3_uc010rmu.2_Missense_Mutation_p.P115L|RTN3_uc001nxm.3_Missense_Mutation_p.P134L|RTN3_uc001nxn.3_Missense_Mutation_p.P892L|RTN3_uc001nxo.3_Missense_Mutation_p.P115L	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	911	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GAAGGCCATCCATTCAAGTGA	0.428000														17			7		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383057	22383057	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22383057G>A	uc001yuc.1	+	6	1566	c.585G>A	c.(583-585)gtG>gtA	p.V195V	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.V195V	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTTTGTGGTGGAGCTTCTAA	0.527000														66			15		0	0	1	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827047	43827047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43827047G>A	uc001zrw.3	-	30	4331	c.4127C>T	c.(4126-4128)cCt>cTt	p.P1376L	PPIP5K1_uc021sjw.1_Missense_Mutation_p.P1351L|PPIP5K1_uc001zrx.2_Missense_Mutation_p.P1349L|PPIP5K1_uc001zry.4_Missense_Mutation_p.P1351L|PPIP5K1_uc021sjx.1_Missense_Mutation_p.P305L	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA.	1376					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						GACCTCCTCAGGGATCTCTTC	0.547000														97			49		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198665886	198665886	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:198665886C>T	uc001gur.1	+	3	320	c.140C>T	c.(139-141)cCc>cTc	p.P47L	PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Intron|PTPRC_uc009wzf.1_Intron|PTPRC_uc021pgy.1_Missense_Mutation_p.P49L|PTPRC_uc010ppg.1_Intron|PTPRC_uc001guu.1_Missense_Mutation_p.P90L|PTPRC_uc001guv.1_Intron|PTPRC_uc001guw.1_Intron	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	47					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCAAGTGACCCCTTACCTACT	0.418000														135			23		0	0	1	0	0
HIATL1	84641	broad.mit.edu	37	9	97218585	97218585	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:97218585C>T	uc004aur.3	+	9	1361	c.1092C>T	c.(1090-1092)gcC>gcT	p.A364A	HIATL1_uc011luh.2_Intron	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	Homo sapiens hippocampus abundant transcript-like 1 (HIATL1), mRNA.	364					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				CAATCAGTGCCCTCGTCTCTC	0.582000														64			21		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916519	42916520	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42916519_42916520CC>TT	uc003cmh.3	-	0	1114_1115	c.789_790GG>AA	c.(787-792)agggag>agAAag	p.E264K	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	264					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	p.E264K(2)		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)		ACCCCCTGCTCCCTCAGAAACT	0.579000														19			8		0	0	1	0	0
BDKRB1	623	broad.mit.edu	37	14	96731038	96731038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:96731038C>T	uc021sbj.1	+	0	1019	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	BDKRB1_uc001yfh.3_Missense_Mutation_p.S340L	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	340					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CCAATATCTTCATCCCATAGG	0.388000														162			65		0	0	1	0	0
L32131	0	broad.mit.edu	37	17	58511106	58511106	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:58511106G>A	uc002iyr.1	-	0		c.2252C>T								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		GCATTCCACAGCACCACTGTT	0.398000														43			13		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422620	26422620	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26422620C>T	uc003abz.1	+	42	6930	c.6680C>T	c.(6679-6681)cCc>cTc	p.P2227L	MYO18B_uc003aca.1_Missense_Mutation_p.P2108L|MYO18B_uc010guy.1_Missense_Mutation_p.P2109L|MYO18B_uc010guz.1_Missense_Mutation_p.P2107L|MYO18B_uc011aka.1_Missense_Mutation_p.P1381L|MYO18B_uc011akb.1_Missense_Mutation_p.P1740L|MYO18B_uc010gva.1_Missense_Mutation_p.P210L|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2227						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						GCTTCCTCTCCCCTGGCTTCT	0.577000														45			12		0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238722307	238722307	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:238722307G>A	uc002vxi.4	+	1	190	c.58G>A	c.(58-60)Gga>Aga	p.G20R		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	19							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CCACAGTAATGGAGGCAACCT	0.423000														47			16		0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54867965	54867965	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54867965C>T	uc002qfk.1	-	7	936	c.626_splice	c.e7+1	p.R209_splice	LAIR1_uc002qfl.1_Splice_Site_p.R192_splice|LAIR1_uc002qfm.1_Splice_Site_p.R208_splice|LAIR1_uc002qfn.1_Splice_Site_p.R191_splice|LAIR1_uc010yex.2_Splice_Site_p.R202_splice|LAIR1_uc002qfo.3_Splice_Site_p.R191_splice	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	209						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GGGGCCTCACCTCTGCTGTGG	0.592000														107			13		0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47358979	47358979	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:47358979G>A	uc021qis.1	-	24	2620	c.2565C>T	c.(2563-2565)tcC>tcT	p.S855S	MYBPC3_uc021qir.1_Silent_p.S507S|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	854	Fibronectin type-III 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGCTGGGCCTGGACATGCCGA	0.622000														33			20		0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987444	22987444	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22987444C>T	uc001bgd.3	+	2	459	c.327C>T	c.(325-327)ccC>ccT	p.P109P		NM_000491	NP_000482	P02746	C1QB_HUMAN	Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA.	109	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		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;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	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)	CCCCAGGCCCCAAAGGTGAAT	0.632000														65			20		0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17422640	17422640	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:17422640G>A	uc011kye.2	+	11	2130	c.2082G>A	c.(2080-2082)aaG>aaA	p.K694K	SLC7A2_uc011kyc.2_Silent_p.K654K|SLC7A2_uc011kyd.2_Silent_p.K693K	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	654					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TCCATGAAAAGACAAGTGAAT	0.433000														26			13		0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200213792	200213792	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:200213792C>T	uc002uuy.2	-	6	1622	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	SATB2_uc010fsq.2_Missense_Mutation_p.E151K|SATB2_uc002uva.2_Missense_Mutation_p.E269K|SATB2_uc002uuz.2_Missense_Mutation_p.E269K|SATB2_uc002uvb.1_Missense_Mutation_p.E12K	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	269						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGAGACTGTTCGTTGGTTTTC	0.498000														63			30		0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206653844	206653844	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:206653844C>T	uc001hdz.2	+	12	1973	c.1395C>T	c.(1393-1395)ctC>ctT	p.L465L	IKBKE_uc001hea.2_Silent_p.L380L|IKBKE_uc009xbv.2_Silent_p.L465L	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	465					DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GGACATCCCTCCTCTACCTCA	0.612000														21			9		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45399639	45399639	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45399639C>T	uc001zun.3	-	13	1800	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	DUOX2_uc010bea.3_Missense_Mutation_p.E533K	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	533	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CGGATGTCTTCAATCTCCTTC	0.552000														102			42		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110831353	110831353	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:110831353G>A	uc001vqw.4	-	30	2497	c.2375C>T	c.(2374-2376)tCc>tTc	p.S792F		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	792	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.G791V(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGACCCCACGGAGCCTGGCAA	0.607000														11			3		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140596022	140596022	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140596022C>T	uc003lja.1	+	0	2514	c.2327C>T	c.(2326-2328)cCc>cTc	p.P776L		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	776					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.P776H(2)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTTCCCTCCCCAGTGCCCT	0.468000														118			55		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17228372	17228372	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:17228372C>T	uc002dfa.3	-	8	2070	c.1985G>A	c.(1984-1986)cGg>cAg	p.R662Q		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	662					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGTCTCGGCCCGTCGAAGACC	0.612000														89			7		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815175	82815175	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:82815175G>A	uc003kii.3	+	6	1406	c.1050G>A	c.(1048-1050)gaG>gaA	p.E350E	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.E350E|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	350	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TAGCTAAAGAGGCTACAACCA	0.373000														80			35		0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151711762	151711762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:151711762C>T	uc003wkp.3	+	7	1330	c.1060C>T	c.(1060-1062)Ccc>Tcc	p.P354S	GALNTL5_uc010lqf.3_Missense_Mutation_p.P243S|GALNTL5_uc003wkq.3_Missense_Mutation_p.P105S|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	354	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CTTTATAATCCCCTGCTCTCG	0.398000														96			34		0	0	1	0	0
NDUFB4	4710	broad.mit.edu	37	3	120319969	120319969	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:120319969C>T	uc003edu.3	+	1	271	c.192C>T	c.(190-192)gcC>gcT	p.A64A	NDUFB4_uc003edt.3_Silent_p.A64A	NM_004547	NP_004538	O95168	NDUB4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa (NDUFB4), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	64					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	AAAATCCTGCCTTGCTTCGTT	0.393000														141			44		0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54281334	54281334	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:54281334G>A	uc003jpk.3	-	0	81	c.12C>T	c.(10-12)gtC>gtT	p.V4V	ESM1_uc010ivt.3_Silent_p.V4V	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Homo sapiens endothelial cell-specific molecule 1 (ESM1), transcript variant 1, mRNA.	4					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TCAGCAGCAAGACGCTCTTCA	0.597000														59			10		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66426077	66426077	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:66426077C>T	uc002eom.4	+	6	1164	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	CDH5_uc002eon.1_Silent_p.I336I	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	336	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ACAGCTTCATCGTCGAGGCCA	0.542000														186			52		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121647268	121647268	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121647268G>A	uc003eep.2	+	15	1360	c.1207_splice	c.e15-1	p.E403_splice	SLC15A2_uc011bjn.1_Splice_Site_p.E372_splice	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	403					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTGCTCTAAGGAAATGGCCCC	0.463000														163			49		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166976277	166976277	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:166976277G>A	uc003irh.2	+	12	2221	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	TLL1_uc011cjn.2_Missense_Mutation_p.G548E|TLL1_uc011cjo.2_Missense_Mutation_p.G349E	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	525	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)		GTTAGAGATGGAACCAGTGAA	0.338000														83			30		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318381	48318381	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48318381G>A	uc003toq.2	+	17	7614	c.7590G>A	c.(7588-7590)aaG>aaA	p.K2530K	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2530					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCTGGTCAAGAAAGTTTCGG	0.413000														158			69		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635089	33635089	+	Missense_Mutation	SNP	G	A	A	rs150287359		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:33635089G>A	uc001uus.3	+	3	1881	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	625	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.S624S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CATGGCCAGCGAGCTTGTCCG	0.627000														85			13		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87195420	87195420	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87195420G>A	uc003uiz.2	-	7	1161	c.668C>T	c.(667-669)cCt>cTt	p.P223L	ABCB1_uc011khc.2_Missense_Mutation_p.P159L	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	223	ABC transmembrane type-1 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)	TCCAAGAACAGGACTGATGGC	0.463000														57			22		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353848	77353848	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:77353848C>T	uc002ffc.4	-	15	2849	c.2430G>A	c.(2428-2430)ggG>ggA	p.G810G	ADAMTS18_uc010chc.1_Silent_p.G398G|ADAMTS18_uc002ffe.1_Silent_p.G506G	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	810	Spacer.				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						AGGGGAACTCCCCAGGCCAGT	0.577000														65			26		0	0	1	0	0
PHF5A	84844	broad.mit.edu	37	22	41864706	41864707	+	Splice_Site	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:41864706_41864707CC>TT	uc003bab.3	-	1	1	c.-50_splice	c.e1-1		ACO2_uc003bac.3_5'Flank	NM_032758	NP_116147	Q7RTV0	PHF5A_HUMAN	Homo sapiens PHD finger protein 5A (PHF5A), mRNA.						nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	U12-type spliceosomal complex|U2 snRNP|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TTCCGTCCGACCTTTAACCCCC	0.540000														24			19		0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113703756	113703756	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113703756G>A	uc011lwo.2	-	1	743	c.741C>T	c.(739-741)ccC>ccT	p.P247P	LPAR1_uc004bfa.3_Silent_p.P246P|LPAR1_uc011lwm.2_Silent_p.P247P|LPAR1_uc004bfc.3_Silent_p.P246P|LPAR1_uc011lwn.2_Silent_p.P228P|LPAR1_uc004bfb.3_Silent_p.P246P|LPAR1_uc010mub.3_Silent_p.P246P	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	246					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GATTCCGCCGGGGTCCAGAAC	0.453000														55			23		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30681077	30681077	+	Silent	SNP	G	A	A	rs144222920	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30681077G>A	uc003nrg.4	-	4	1082	c.642C>T	c.(640-642)ttC>ttT	p.F214F	MDC1_uc003nrf.4_5'UTR|MDC1_uc011dmp.1_Silent_p.F86F|MDC1_uc003nrh.1_Silent_p.F86F|MDC1_uc003nri.2_Silent_p.F214F	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	214	Interaction with the MRN complex.|Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGTTCAAATTGAAGGCAAAAG	0.527000								Other conserved DNA damage response genes						99			18		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800953	185800953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:185800953C>T	uc002uph.3	+	3	1424	c.830C>T	c.(829-831)tCt>tTt	p.S277F		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	277						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAAACTAACTCTTTTCATCCA	0.368000														93			20		0	0	1	0	0
STK4	6789	broad.mit.edu	37	20	43610472	43610472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43610472C>T	uc002xnb.3	+	3	338	c.248C>T	c.(247-249)cCt>cTt	p.P83L	STK4_uc010ggx.3_Missense_Mutation_p.P83L|STK4_uc010ggy.3_Missense_Mutation_p.P83L|STK4_uc010ggw.1_Missense_Mutation_p.P83L	NM_006282	NP_006273	Q13043	STK4_HUMAN	Homo sapiens serine/threonine kinase 4 (STK4), mRNA.	83	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				CTCTCTAGCCCTCATGTAGTC	0.343000														53			16		0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612740	20612740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20612740G>A	uc010tla.2	+	0	846	c.846G>A	c.(844-846)atG>atA	p.M282I		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TTCCTTTGATGAACCCTGTTA	0.413000														163			70		0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64973550	64973550	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:64973550G>A	uc001jmn.3	-	7	2677	c.2377C>T	c.(2377-2379)Cct>Tct	p.P793S	JMJD1C_uc001jml.3_Missense_Mutation_p.P574S|JMJD1C_uc001jmm.3_Missense_Mutation_p.P505S|JMJD1C_uc010qiq.2_Missense_Mutation_p.P611S|JMJD1C_uc009xpi.3_Missense_Mutation_p.P611S|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Missense_Mutation_p.P505S	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	793					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGTAAATGAGGGTGATGAACA	0.507000														30			15		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19404516	19404516	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:19404516G>A	uc001bbi.3	-	103	15282	c.15278C>T	c.(15277-15279)tCc>tTc	p.S5093F	UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.3_5'UTR|UBR4_uc010ocv.2_Missense_Mutation_p.S616F|UBR4_uc009vph.3_Missense_Mutation_p.S727F|UBR4_uc010ocw.2_Missense_Mutation_p.S757F|UBR4_uc001bbg.3_Missense_Mutation_p.S804F|UBR4_uc001bbh.3_Missense_Mutation_p.S802F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	5093					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAAGAGAAGGGAAGAACGGTA	0.473000														29			13		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47506910	47506911	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:47506910_47506911GG>AA	uc002leb.2	-	8	1247_1248	c.959_960CC>TT	c.(958-960)tcc>tTT	p.S320F	MYO5B_uc021ukb.1_Missense_Mutation_p.S319F	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	320	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCATCTGATGGGACTCTTTCAC	0.391000														52			9		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	163581	163581	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:163581C>T	uc003jak.2	+	10	2376	c.2326C>T	c.(2326-2328)Ccc>Tcc	p.P776S		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	776					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGCCAGGAGCCCCCCGGTCAC	0.652000														34			15		0	0	1	0	0
SUCLA2	8803	broad.mit.edu	37	13	48571090	48571090	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:48571090G>A	uc001vbs.3	-	1	216	c.159C>T	c.(157-159)ctC>ctT	p.L53L	SUCLA2_uc010tgb.2_5'UTR|SUCLA2_uc010tgc.2_5'UTR|SUCLA2_uc010tgd.2_5'UTR	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	Homo sapiens succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2), nuclear gene encoding mitochondrial protein, mRNA.	53					succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	CATGTAGTGAGAGATTCCTTT	0.403000														59			29		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36129141	36129141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:36129141C>T	uc021rid.1	+	43	7358	c.6824C>T	c.(6823-6825)aCt>aTt	p.T2275I	NBEA_uc021ric.1_Missense_Mutation_p.T2272I|NBEA_uc010abi.3_Missense_Mutation_p.T931I|NBEA_uc010tee.1_Missense_Mutation_p.T68I|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.T68I|NBEA_uc010teg.1_Missense_Mutation_p.T68I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2275	BEACH.					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)		TCATTGGCCACTCCTCGACAG	0.328000														21			11		0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143633133	143633133	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143633133C>T	uc011ktv.2	+	0	808	c.808C>T	c.(808-810)Caa>Taa	p.Q270*		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CTCAGTCCTTCAAGAGAAGCT	0.507000														96			41		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17599924	17599924	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17599924C>T	uc001bai.3	+	9	1177	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	379					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGCAGGATTTCCCTTACAAAA	0.617000														34			21		0	0	1	0	0
Y00482	0	broad.mit.edu	37	7	38388866	38388866	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:38388866G>A	uc022aca.1	-	1	623	c.444C>T	c.(442-444)ttC>ttT	p.F148F	LOC100506776_uc003tgp.2_Intron					SubName: Full=T-cell gamma protein; Flags: Fragment;																		TTGGTGACAGGAAATGAGAGG	0.512000														6			4		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949917	56949917	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56949917C>T	uc001njl.2	+	0	697	c.550C>T	c.(550-552)Cac>Tac	p.H184Y		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	154						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGGGCTAGTCCACATCGACCT	0.607000														34			16		0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169417815	169417815	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169417815G>A	uc002uec.1	+	2	514	c.390G>A	c.(388-390)acG>acA	p.T130T	CERS6_uc002ueb.1_Silent_p.T130T	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	130	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GCACGCTGACGAGGTTCTGTG	0.463000														112			39		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48595010	48595010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48595010G>A	uc010wmr.2	+	3	710	c.548G>A	c.(547-549)gGg>gAg	p.G183E	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	146					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CACATCTTGGGGAGTCTCCAG	0.512000														40			27		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51890209	51890209	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:51890209C>T	uc003pah.1	-	31	4675	c.4399G>A	c.(4399-4401)Ggg>Agg	p.G1467R	PKHD1_uc003pai.3_Missense_Mutation_p.G1467R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1467	IPT/TIG 9.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGGTTAGCCCATTGACCAGG	0.537000														33			18		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144944740	144944740	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144944740C>T	uc003zaa.1	-	0	2695	c.2682G>A	c.(2680-2682)gaG>gaA	p.E894E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	894						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGATACCGGCCTCCAGGAGCT	0.662000														16			5		0	0	1	0	0
VOPP1	81552	broad.mit.edu	37	7	55565347	55565347	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55565347G>A	uc003tqs.3	-	2	333	c.150C>T	c.(148-150)tgC>tgT	p.C50C	VOPP1_uc003tqq.3_Silent_p.C41C|VOPP1_uc010kzh.3_Silent_p.C47C|VOPP1_uc010kzi.3_Silent_p.C33C|VOPP1_uc011kcr.2_5'UTR	NM_030796	NP_110423	Q96AW1	VOPP1_HUMAN	Homo sapiens vesicular, overexpressed in cancer, prosurvival protein 1 (VOPP1), mRNA.	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						CCCGCACACAGCACCTGGAGC	0.637000														75			17		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8235575	8235575	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:8235575C>T	uc003wsh.4	-	1	344	c.344G>A	c.(343-345)cGa>cAa	p.R115Q		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	115							ATP binding|non-membrane spanning protein tyrosine kinase activity										GCCAGGGGCTCGTCTCCAGAT	0.547000														83			30		0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187023	123187024	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:123187023_123187024GG>AA	uc001ucx.1	-	0	881_882	c.807_808CC>TT	c.(805-810)taccgc>taTTgc	p.R270C	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	270					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	TCCACCGAGCGGTACACTTCAC	0.550000														42			6		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4835838	4835838	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4835838C>T	uc001qne.1	+	1	444	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	118						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCAAATGAAACTCTTCCCACA	0.507000														26			11		0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33318442	33318442	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:33318442C>T	uc002yph.3	+	3	1065	c.705C>T	c.(703-705)ctC>ctT	p.L235L		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	235	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CTGAACTGCTCGCCAGGAAGA	0.542000														84			7		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85715876	85715876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:85715876G>A	uc003hpd.3	-	20	3691	c.3283C>T	c.(3283-3285)Cct>Tct	p.P1095S		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1095						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAGGGAGGAGGGAAGAATCTT	0.343000														41			16		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225438	21225438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21225438C>T	uc002red.3	-	28	12984	c.12856G>A	c.(12856-12858)Gcc>Acc	p.A4286T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4286					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GACTGAATGGCTTTAAATACC	0.348000														114			45		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157509152	157509152	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157509152G>A	uc009wsm.3	-	6	1284	c.1126C>T	c.(1126-1128)Ccc>Tcc	p.P376S	FCRL5_uc001fqu.3_Missense_Mutation_p.P376S|FCRL5_uc010phv.1_Missense_Mutation_p.P376S|FCRL5_uc010phw.1_Missense_Mutation_p.P291S|FCRL5_uc001fqv.1_Missense_Mutation_p.P376S|FCRL5_uc010phx.2_Missense_Mutation_p.P127S	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	376						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGAGACACGGGAACTGAGAGA	0.458000														43			13		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83362658	83362658	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:83362658G>A	uc004eej.2	-	12	1120	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S	RPS6KA6_uc011mqt.2_Missense_Mutation_p.P362S|RPS6KA6_uc011mqu.2_Missense_Mutation_p.P259S	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	362	AGC-kinase C-terminal.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GTAAATTCAGGATCAAAACAA	0.303000														18			11		0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16760838	16760838	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:16760838C>T	uc003goz.3	-	1	494	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	LDB2_uc003gpa.3_Missense_Mutation_p.E60K|LDB2_uc011bxh.2_Missense_Mutation_p.E60K|LDB2_uc003gpb.3_Missense_Mutation_p.E60K|LDB2_uc010iee.3_Missense_Mutation_p.E60K	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	60							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GCGTCATCTTCAAAAAATTCA	0.378000														74			28		0	0	1	0	0
CXCL10	3627	broad.mit.edu	37	4	76943088	76943088	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:76943088G>A	uc003hjl.4	-	3	397	c.292C>T	c.(292-294)Cct>Tct	p.P98S	ART3_uc003hji.3_Intron|ART3_uc003hjj.3_Intron|ART3_uc003hjk.3_Intron	NM_001565	NP_001556	P02778	CXL10_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 10 (CXCL10), mRNA.	98					blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGGTTTTAAGGAGATCTTTTA	0.453000														128			50		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26739344	26739344	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:26739344C>T	uc002rhk.3	-	4	578	c.451G>A	c.(451-453)Gga>Aga	p.G151R	OTOF_uc010ylb.1_Non-coding_Transcript	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	151					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGCAGTCCATCCGTCTCT	0.632000														123			29		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607138	42607138	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:42607138G>A	uc003bcj.1	-	0	4308	c.4174C>T	c.(4174-4176)Cct>Tct	p.P1392S	TCF20_uc003bck.1_Missense_Mutation_p.P1392S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCTTCAGGAGGACCACTCTTC	0.507000														110			19		0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45410212	45410212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:45410212C>T	uc001rok.1	-	3	1049	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R292T(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GGAGAATTCTCCCTCCATCTT	0.498000														77			34		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29008201	29008201	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29008201G>A	uc001usb.3	-	4	955	c.670C>T	c.(670-672)Cga>Tga	p.R224*	FLT1_uc010aar.1_Nonsense_Mutation_p.R224*|FLT1_uc001usc.3_Nonsense_Mutation_p.R224*|FLT1_uc010tdp.1_Nonsense_Mutation_p.R224*	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	224					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTACTTTGTCGATGTGTGAGA	0.353000														77			24		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75078455	75078455	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75078455G>A	uc001dgg.3	-	8	1258	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.P141S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	347								p.P347H(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						AGACTGAAGGGGAAACCATGA	0.413000														44			20		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114290845	114290845	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:114290845G>A	uc003ynu.3	-	2	649	c.490C>T	c.(490-492)Cat>Tat	p.H164Y	CSMD3_uc003ynt.3_Missense_Mutation_p.H124Y|CSMD3_uc011lhx.2_Missense_Mutation_p.H164Y|CSMD3_uc010mcx.1_Missense_Mutation_p.H164Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	164	CUB 1.					integral to membrane|plasma membrane				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						TTAAATCCATGAGCACTAACT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				74			21		0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76928970	76928970	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:76928970C>T	uc001xsr.3	+	4	851	c.480C>T	c.(478-480)ttC>ttT	p.F160F	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Silent_p.F160F	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	160						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCTGCCGCTTCATGAAATGCC	0.582000														113			52		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10235458	10235458	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10235458G>A	uc002gmk.1	-	19	2346	c.2256C>T	c.(2254-2256)tcC>tcT	p.S752S		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	752	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCACATCGATGGAGTTGAGGA	0.547000														38			29		0	0	1	0	0
SH3BP2	6452	broad.mit.edu	37	4	2829023	2829023	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:2829023C>T	uc003gfi.4	+	5	615	c.495C>T	c.(493-495)tcC>tcT	p.S165S	SH3BP2_uc011bvp.2_Silent_p.S193S|SH3BP2_uc003gfj.4_Silent_p.S222S|SH3BP2_uc003gfk.4_Silent_p.S165S|SH3BP2_uc003gfl.4_Silent_p.S98S|SH3BP2_uc003gfm.4_Silent_p.S140S	NM_001122681	NP_003014	P78314	3BP2_HUMAN	Homo sapiens SH3-domain binding protein 2 (SH3BP2), transcript variant 2, mRNA.	165					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TCAGCCTTTCCCCGTACCCCA	0.627000									Cherubism					58			23		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158627485	158627485	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158627485C>T	uc001fst.1	-	19	2787	c.2588_splice	c.e19-1	p.G863_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	863					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAAAGTGTCCTATGGAGTAA	0.413000														88			31		0	0	1	0	0
OSR2	116039	broad.mit.edu	37	8	99961684	99961684	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:99961684G>A	uc011lgx.2	+	2	1288	c.867G>A	c.(865-867)acG>acA	p.T289T	OSR2_uc010mbn.2_Silent_p.T168T|OSR2_uc003yir.3_Silent_p.T168T|OSR2_uc003yiq.3_Silent_p.T168T	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	Homo sapiens odd-skipped related 2 (Drosophila) (OSR2), transcript variant 1, mRNA.	168					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CCTCCAAAACGAAAAAAGAGT	0.522000														232			73		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102470966	102470966	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:102470966C>T	uc001yks.2	+	23	5159	c.4995C>T	c.(4993-4995)atC>atT	p.I1665I		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1665	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGAGCATCATCCTGAACGAGG	0.378000														54			25		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6697719	6697719	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6697719C>T	uc002mfm.3	-	19	2589	c.2527G>A	c.(2527-2529)Gag>Aag	p.E843K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	843					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.N842N(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCACCTGCTCGTTTCGAACA	0.587000														30			41		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14939133	14939133	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:14939133C>T	uc003bzc.3	+	4	2976	c.2866C>T	c.(2866-2868)Cat>Tat	p.H956Y	FGD5_uc011avk.2_Missense_Mutation_p.H956Y|FGD5_uc003bzd.3_Missense_Mutation_p.H34Y	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	956	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.D955D(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCACGACCTTCATCAAGGCAT	0.587000														12			3		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075737	145075737	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:145075737G>A	uc001elo.3	-	0	450	c.126C>T	c.(124-126)tcC>tcT	p.S42S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001emh.3_Silent_p.S42S|PDE4DIP_uc001emk.3_Non-coding_Transcript	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 3, mRNA.	716					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.R41L(1)		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)		TCTGCCGTGGGGACTGAGGGG	0.736000			T	PDGFRB	MPD									109			12		0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95056388	95056388	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:95056388G>A	uc001ydm.2	+	3	840	c.630G>A	c.(628-630)gaG>gaA	p.E210E	SERPINA5_uc010ave.2_Silent_p.E210E|SERPINA3_uc001ydo.4_5'Flank	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	210					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.W209L(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTAAGTGGGAGACAAGCTTCA	0.433000														21			15		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109817360	109817360	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:109817360C>T	uc010agk.2	+	32	5898	c.5276C>T	c.(5275-5277)tCa>tTa	p.S1759L	MYO16_uc001vqt.1_Missense_Mutation_p.S1737L	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1737					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTATCTAATTCACTATCTAGT	0.348000														32			14		0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89671018	89671018	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:89671018C>T	uc003hse.1	-	15	2191	c.1983G>A	c.(1981-1983)gaG>gaA	p.E661E	FAM13A_uc003hsa.1_Silent_p.E132E|FAM13A_uc003hsb.1_Silent_p.E335E|FAM13A_uc003hsd.1_Silent_p.E335E|FAM13A_uc003hsc.1_Silent_p.E321E|FAM13A_uc011cdq.1_Silent_p.E307E|FAM13A_uc003hsf.1_Silent_p.E247E|FAM13A_uc003hsg.1_Silent_p.E132E|FAM13A_uc010ikr.1_Silent_p.E157E	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	661					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GTGTCAGGTCCTCTTGCTCAT	0.502000														55			23		0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777308	123777309	+	Missense_Mutation	DNP	CC	TT	TT	rs79929702		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123777308_123777309CC>TT	uc010saa.2	+	0	170_171	c.170_171CC>TT	c.(169-171)acc>aTT	p.T57I		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CAACTTCATACCCCCATGTACT	0.401000														147			42		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155448522	155448522	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155448522G>A	uc009wqq.3	-	2	4619	c.4139C>T	c.(4138-4140)cCa>cTa	p.P1380L	ASH1L_uc001fkt.3_Missense_Mutation_p.P1380L|ASH1L_uc009wqr.1_Missense_Mutation_p.P1380L	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1380	Pro-rich.				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)			ACCATAAGATGGATAGAATCC	0.453000														52			23		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44553214	44553214	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44553214C>T	uc003tlb.3	-	19	3968	c.3912G>A	c.(3910-3912)caG>caA	p.Q1304Q	NPC1L1_uc011kbw.2_Silent_p.Q1231Q|NPC1L1_uc003tlc.3_Silent_p.Q1277Q|NPC1L1_uc003tla.3_3'UTR	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1304					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)	CAGCCCGCTTCTGCTCCAGTG	0.597000														54			29		0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45537767	45537767	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45537767C>T	uc021uvq.1	+	10	1466	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	RELB_uc021uvp.1_Silent_p.F442F	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	445						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TGGACCACTTCCTGCCCAACC	0.622000														11			5		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11070974	11070974	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:11070974G>A	uc010hdq.3	+	11	1670	c.1259G>A	c.(1258-1260)aGa>aAa	p.R420K		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	420					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.R419H(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CGCAACCGCAGAGAGCTCTTC	0.567000														28			9		0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72005678	72005678	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:72005678G>A	uc001osj.3	-	13	1686	c.1636C>T	c.(1636-1638)Cgc>Tgc	p.R546C	CLPB_uc010rqx.2_Missense_Mutation_p.R501C|CLPB_uc010rqy.2_Missense_Mutation_p.R487C|CLPB_uc001osk.3_Missense_Mutation_p.R516C|CLPB_uc010rqz.2_Missense_Mutation_p.R345C|CLPB_uc001osi.3_Missense_Mutation_p.R154C	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	546					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						AGGATAGGGCGAATCACATTC	0.468000														120			48		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703632	4703632	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4703632G>A	uc001lzk.2	-	1	554	c.310C>T	c.(310-312)Cat>Tat	p.H104Y	OR51E2_uc021qcr.1_Missense_Mutation_p.H104Y	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAGAGGGCATGAATAAAGAAC	0.517000														46			17		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857927	9857927	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:9857927G>A	uc010uym.2	-	13	3784	c.3474C>T	c.(3472-3474)ttC>ttT	p.F1158F	GRIN2A_uc002czo.4_Silent_p.F1158F|GRIN2A_uc010uyn.2_Silent_p.F1001F|GRIN2A_uc002czr.4_Silent_p.F1158F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1158					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCCCTTGCGGAAGTTTTCAC	0.527000														155			13		0	0	1	0	0
CECR5	27440	broad.mit.edu	37	22	17630511	17630511	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17630511G>A	uc002zmf.3	-	1	279	c.251C>T	c.(250-252)cCc>cTc	p.P84L	CECR5_uc002zmh.3_Missense_Mutation_p.P54L	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 5 (CECR5), transcript variant 2, mRNA.	84							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				AAAAACCACGGGCACCCGCAG	0.587000														121			63		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72326435	72326435	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72326435G>A	uc001jrd.4	+	19	2798	c.2517G>A	c.(2515-2517)cgG>cgA	p.R839R	KIAA1274_uc001jre.4_Silent_p.R130R	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	839										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						TGCGCTACCGGTGGCAGGAGC	0.677000														19			3		0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27943722	27943722	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27943722C>T	uc001boj.3	-	3	660	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	FGR_uc001boi.3_5'Flank|FGR_uc001bok.3_Missense_Mutation_p.E172K|FGR_uc001bol.3_Missense_Mutation_p.E172K|FGR_uc001bom.3_Missense_Mutation_p.E172K	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	172	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.R171W(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTCTCGCTTTCCCGAATGAGA	0.592000														61			30		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45712900	45712900	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45712900G>A	uc002zei.2	+	9	1247	c.1120G>A	c.(1120-1122)Gga>Aga	p.G374R	AIRE_uc010gpq.2_Non-coding_Transcript|AIRE_uc002zej.2_Missense_Mutation_p.G177R|AIRE_uc010gpr.2_Missense_Mutation_p.G177R	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	374					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		TAGGTCGGCGGGAGAGGAGGT	0.682000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					65			10		0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18257561	18257561	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:18257561G>A	uc022asl.1	+	0	48	c.48G>A	c.(46-48)agG>agA	p.R16R	NAT2_uc003wyw.1_Silent_p.R16R	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	16					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		AGAACTCTAGGAACAAATTGG	0.378000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					150			68		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187542685	187542685	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187542685G>A	uc003izf.3	-	9	5243	c.5055C>T	c.(5053-5055)ttC>ttT	p.F1685F		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1685	Cadherin 15.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCATCCCAACGAAACTCCCAA	0.388000										HNSCC(5;0.00058)				76			24		0	0	1	0	0
RBMY2FP	159162	broad.mit.edu	37	Y	24460745	24460745	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:24460745G>A	uc004fvc.3	+	3	435	c.319G>A	c.(319-321)Gga>Aga	p.G107R	RBMY1F_uc004fvd.3_Intron|RBMY1F_uc011nbh.2_Intron					Homo sapiens RNA binding motif protein, Y-linked, family 2, member F pseudogene (RBMY2FP), non-coding RNA.																		AAGCCCTTCAGGATGTCTGAG	0.448000														9			8		0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114292282	114292282	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:114292282G>A	uc003vhb.3	+	8	1493	c.1119G>A	c.(1117-1119)ttG>ttA	p.L373L	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.L398L|FOXP2_uc003vha.3_Silent_p.L281L|FOXP2_uc011kmv.2_Silent_p.L372L|FOXP2_uc011kmu.2_Silent_p.L390L|FOXP2_uc010ljz.2_Silent_p.L281L|FOXP2_uc003vhc.3_Silent_p.L398L|FOXP2_uc003vhd.3_Silent_p.L373L|MIR3666_uc022ake.1_5'Flank	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	373					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AACACGCATTGGATGACCGAA	0.408000														59			11		0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36982475	36982475	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:36982475G>A	uc010jwp.1	+	6	1048	c.877G>A	c.(877-879)Gag>Aag	p.E293K	FGD2_uc003ong.2_Missense_Mutation_p.E15K|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Missense_Mutation_p.E99K	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	293					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGCCATCACTGAGATGGTAAG	0.607000														29			15		0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95847143	95847143	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:95847143C>T	uc002suf.3	+	4	1032	c.570C>T	c.(568-570)acC>acT	p.T190T	ZNF2_uc002sug.3_Silent_p.T148T|ZNF2_uc010yue.2_Silent_p.T152T|ZNF2_uc010fhs.3_Silent_p.T110T	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CATCCCTCACCCGCCATCAGA	0.572000														94			22		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4702675	4702675	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:4702675C>T	uc003bqc.3	+	12	1460	c.1110C>T	c.(1108-1110)aaC>aaT	p.N370N	ITPR1_uc021wsi.1_Silent_p.N385N|ITPR1_uc021wsj.1_Silent_p.N370N|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	385	MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTGTTAGGAACTCTTATGTTC	0.368000														32			10		0	0	1	0	0
API5	8539	broad.mit.edu	37	11	43342980	43342980	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:43342980C>T	uc010rfh.1	+	3	518	c.345C>T	c.(343-345)aaC>aaT	p.N115N	API5_uc001mxf.2_Silent_p.N115N|API5_uc010rfg.1_Silent_p.N104N|API5_uc010rfi.1_Silent_p.N61N|API5_uc021qgi.1_Silent_p.N115N|API5_uc001mxg.3_5'UTR	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA.	115					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CAGAATTTAACCTAGTGAACA	0.303000														45			19		0	0	1	0	0
VWC2	375567	broad.mit.edu	37	7	49951662	49951662	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:49951662C>T	uc003tot.1	+	3	1415	c.859C>T	c.(859-861)Cct>Tct	p.P287S		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	Homo sapiens von Willebrand factor C domain containing 2 (VWC2), mRNA.	287					negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CGCGGTGATCCCTGCTGGCAG	0.423000														72			11		0	0	1	0	0
PEX5	5830	broad.mit.edu	37	12	7351705	7351705	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7351705C>T	uc009zfu.2	+	6	1127	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	PEX5_uc001qsw.3_Missense_Mutation_p.R183C|PEX5_uc010sgc.2_Missense_Mutation_p.R198C|PEX5_uc001qsu.3_Missense_Mutation_p.R183C|PEX5_uc010sgd.2_Missense_Mutation_p.R204C|PEX5_uc001qsv.3_Missense_Mutation_p.R183C	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	183					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						AGCCACCGATCGCTGGTGAGT	0.532000														10			5		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325546	31325546	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:31325546C>T	uc010dmg.1	+	11	5789	c.5734C>T	c.(5734-5736)Cat>Tat	p.H1912Y	ASXL3_uc002kxq.2_Missense_Mutation_p.H1619Y	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1912					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAACCTATTTCATGTTGACAA	0.527000														133			30		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167814888	167814888	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167814888G>A	uc001ger.3	-	20	3218	c.2920C>T	c.(2920-2922)Ccc>Tcc	p.P974S	ADCY10_uc010plj.2_Missense_Mutation_p.P821S|ADCY10_uc009wvk.3_Missense_Mutation_p.P882S|ADCY10_uc009wvl.3_Missense_Mutation_p.P973S	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	974					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TGATGATAGGGAATGAAGTCC	0.448000														68			33		0	0	1	0	0
SCARB1	949	broad.mit.edu	37	12	125270724	125270724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:125270724G>A	uc001ugp.3	-	10	1833	c.1580C>T	c.(1579-1581)tCt>tTt	p.S527F	SCARB1_uc001ugm.4_Intron|SCARB1_uc001ugn.4_Intron|SCARB1_uc010tbd.2_Intron|SCARB1_uc001ugo.4_Missense_Mutation_p.S527F	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	527					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GCATGCAAAAGACGCAAGCGT	0.642000														9			8		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780705	88780705	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:88780705G>A	uc001pcq.3	-	0	536	c.336C>T	c.(334-336)ttC>ttT	p.F112F	GRM5_uc009yvm.3_Silent_p.F112F|GRM5_uc009yvn.2_Silent_p.F112F	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	112					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.F112L(3)|p.E111A(1)|p.E111V(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AATCTCTTATGAACTCAATGC	0.527000														36			28		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438751	179438751	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179438751C>T	uc021vsy.1	-	274	64629	c.64404G>A	c.(64402-64404)aaG>aaA	p.K21468K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K15163K|TTN_uc021vta.1_Silent_p.K15096K|TTN_uc021vtb.1_Silent_p.K14971K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22395	Fibronectin type-III 55.						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)			TAACCGTGTCCTTAAATTTAA	0.463000														29			19		0	0	1	0	0
FER	2241	broad.mit.edu	37	5	108523217	108523217	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:108523217C>T	uc003kop.1	+	19	2794	c.2410C>T	c.(2410-2412)Cgc>Tgc	p.R804C	FER_uc011cvg.1_Missense_Mutation_p.R629C	NM_005246	NP_005237	P16591	FER_HUMAN	Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA.	804	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		ACCTGAAAATCGCCCTAAGTT	0.453000														64			24		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6184141	6184141	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6184141C>T	uc001amb.2	-	30	4677	c.4566G>A	c.(4564-4566)ggG>ggA	p.G1522G	CHD5_uc001alz.2_Silent_p.G379G|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1522					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCTGTACTTCCCGTTGACAT	0.632000														21			8		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6712357	6712357	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6712357C>T	uc002mfm.3	-	10	1242	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	394					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.G393G(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACAGTGTCCTCGCCCTGGACT	0.617000														48			21		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179561820	179561820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179561820G>A	uc010pnp.2	+	1	588	c.70G>A	c.(70-72)Gat>Aat	p.D24N	TDRD5_uc021pfm.1_Missense_Mutation_p.D24N|TDRD5_uc001gnf.2_Missense_Mutation_p.D24N|TDRD5_uc021pfn.1_Missense_Mutation_p.D24N|DQ578586_uc010pno.2_5'Flank	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	24	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTCCACCAAAGATGGTTTGAG	0.483000														146			16		0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671526	45671526	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:45671526G>A	uc021qgn.1	-	0	948	c.948C>T	c.(946-948)atC>atT	p.I316I	CHST1_uc001mys.2_Silent_p.I316I	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	316					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	p.E315K(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGAACCCGTAGATCTCCTCGG	0.642000														51			31		0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70418945	70418945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70418945G>A	uc001xlt.2	+	1	472	c.190G>A	c.(190-192)Gag>Aag	p.E64K	SMOC1_uc001xls.2_Missense_Mutation_p.E64K	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	64	Kazal-like.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CAGGTCCTACGAGTCCATGTG	0.577000														108			41		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208200648	208200648	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:208200648C>T	uc001hgz.3	-	31	6383	c.5625G>A	c.(5623-5625)cgG>cgA	p.R1875R	PLXNA2_uc001hgy.3_Silent_p.R145R	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1875					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCCGCTGCCGCCGTGCCTGCT	0.547000														85			29		0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6471258	6471258	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6471258G>A	uc001qnw.3	-	2	1275	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	SCNN1A_uc001qnv.3_5'UTR|SCNN1A_uc001qnx.3_Silent_p.F278F|SCNN1A_uc010sfb.2_Silent_p.F301F	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	278					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	AGGCGAAGATGAAGTTGCCCA	0.622000														65			5		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35753829	35753829	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35753829G>A	uc003jjo.3	+	23	3545	c.3434G>A	c.(3433-3435)gGa>gAa	p.G1145E	SPEF2_uc003jjp.1_Missense_Mutation_p.G631E	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1145					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GACACTCTTGGAATGACAATG	0.512000														155			30		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111141854	111141854	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:111141854C>T	uc001vqx.3	+	35	3560	c.3271_splice	c.e35+1	p.G1091_splice		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1091	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.F1090F(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTGGTGATTTCGGTGAGTGTT	0.507000														72			23		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106610738	106610738	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106610738G>A	uc021ser.1	-	1668		c.31922C>T								Parts of antibodies, mostly variable regions.																		TTTTAAAATAGCAGCAAGGAA	0.448000														158			43		0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729504	41729504	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:41729504G>A	uc003thq.3	-	1	1260	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	INHBA_uc003thr.3_Missense_Mutation_p.P342L	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	342					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.A341T(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ATAGCCAGAGGGAGCAATGAT	0.537000										TSP Lung(11;0.080)				103			30		0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46945084	46945084	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46945084G>A	uc003cqm.3	+	15	1923	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	PTH1R_uc021wxg.1_Missense_Mutation_p.E574K	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	574						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						CCTGGACGAGGAGGCCTCTGG	0.652000														120			57		0	0	1	0	0
LOC283547	283547	broad.mit.edu	37	14	39304870	39304870	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:39304870G>A	uc010amw.2	-	0		c.3539C>T			LOC283547_uc021rsj.1_Non-coding_Transcript|LOC283547_uc001wun.3_Non-coding_Transcript|LOC283547_uc001wuo.3_Non-coding_Transcript					Homo sapiens uncharacterized LOC283547 (LOC283547), non-coding RNA.																		TAATGGAGGTGGATCTTTAAG	0.488000														21			11		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15917200	15917200	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:15917200G>A	uc002ddx.3	-	2	521	c.414C>T	c.(412-414)atC>atT	p.I138I	MYH11_uc002ddv.3_Silent_p.I138I|MYH11_uc002ddw.3_Silent_p.I138I|MYH11_uc002ddy.3_Silent_p.I138I|MYH11_uc010bvg.3_5'UTR|MYH11_uc002deb.3_Silent_p.I138I	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	138	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACATGTCGACGATCTTCTCCG	0.552000			T	CBFB	AML									62			28		0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56742819	56742819	+	Missense_Mutation	SNP	G	A	A	rs149351309		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56742819G>A	uc001slc.3	-	16	1668	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S	STAT2_uc001slb.3_Missense_Mutation_p.P31S|STAT2_uc001sld.3_Missense_Mutation_p.P485S|STAT2_uc010sqn.2_3'UTR	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	489					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GGGGCCTTGGGGGGGTTGGAG	0.602000														52			18		0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25216031	25216031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:25216031C>T	uc011awl.2	+	0	209	c.143C>T	c.(142-144)cCg>cTg	p.P48L		NM_016152	NP_057236	P10826	RARB_HUMAN	Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA.	48	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CATGGACATCCGCCTCCGAGT	0.557000														68			23		0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46407393	46407393	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:46407393C>T	uc001nct.1	-	0	715	c.715G>A	c.(715-717)Gcc>Acc	p.A239T		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	239					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	AGCGTCTTGGCTTTCTTCTCC	0.642000														5			5		0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109284406	109284406	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:109284406G>A	uc001dvx.3	+	11	2182	c.2182G>A	c.(2182-2184)Ggg>Agg	p.G728R	FNDC7_uc010ova.2_Missense_Mutation_p.G485R	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	729						extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GATTTATAGAGGGAAGAGAAA	0.348000														44			13		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996416	140996416	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140996416C>T	uc004fbt.3	+	3	3550	c.3226C>T	c.(3226-3228)Cat>Tat	p.H1076Y	MAGEC1_uc010nsl.2_Missense_Mutation_p.H143Y|MAGEC1_uc022cfi.1_Missense_Mutation_p.H735Y	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1076	MAGE.						protein binding	p.H1076Y(2)		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)					TCCAAGAGCTCATTCAGAAGT	0.458000										HNSCC(15;0.026)				129			24		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101491710	101491710	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:101491710G>A	uc010svm.1	+	20	2565	c.1993G>A	c.(1993-1995)Gaa>Aaa	p.E665K	ANO4_uc001thw.2_Missense_Mutation_p.E630K|ANO4_uc001thx.2_Missense_Mutation_p.E665K|ANO4_uc001thy.2_Missense_Mutation_p.E185K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	665						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						taatttcatggaacttggcta	0.413000										HNSCC(74;0.22)				104			46		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251424	25251424	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:25251424G>A	uc002dod.4	-	6	3024	c.2617C>T	c.(2617-2619)Cat>Tat	p.H873Y	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.H669Y	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	873					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)		GCGCTGAAATGAGAACTGTTG	0.453000														49			25		0	0	1	0	0
AVPR1A	552	broad.mit.edu	37	12	63541245	63541245	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:63541245C>T	uc001sro.1	-	1	3125	c.1151G>A	c.(1150-1152)aGa>aAa	p.R384K		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	384					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	AAAAGTCTGTCTTCTGCTCAT	0.403000														117			23		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105947179	105947179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105947179C>T	uc001kxw.3	-	13	1875	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	WDR96_uc009xxq.3_5'Flank|WDR96_uc001kxx.4_Missense_Mutation_p.E588K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	587										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGAGCGTGCTCCAACTCATAC	0.403000														55			29		0	0	1	0	0
HORMAD1	84072	broad.mit.edu	37	1	150672595	150672595	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:150672595C>T	uc001evk.2	-	13	1215	c.1097G>A	c.(1096-1098)gGg>gAg	p.G366E	GOLPH3L_uc001evj.2_5'Flank|GOLPH3L_uc010pci.1_5'Flank|HORMAD1_uc001evl.2_Missense_Mutation_p.G359E|HORMAD1_uc001evm.2_Missense_Mutation_p.G286E	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	Homo sapiens HORMA domain containing 1 (HORMAD1), transcript variant 1, mRNA.	366					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TACTATTCTCCCAGATTCATG	0.289000														39			8		0	0	1	0	0
YAE1D1	57002	broad.mit.edu	37	7	39610212	39610212	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:39610212C>T	uc003thc.4	+	1	252	c.237C>T	c.(235-237)ctC>ctT	p.L79L		NM_020192	NP_064577	Q9NRH1	CG036_HUMAN	Homo sapiens Yae1 domain containing 1 (YAE1D1), mRNA.	79																	ATGGACGACTCCGAGGAACAT	0.348000														89			26		0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55614818	55614818	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55614818G>A	uc010spf.2	+	0	10	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TATGATCTGTGAAAATCACAC	0.313000														168			28		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14775943	14775943	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:14775943G>A	uc003zlm.3	-	25	5517	c.4701C>T	c.(4699-4701)ttC>ttT	p.F1567F	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_5'Flank|FREM1_uc003zll.3_Silent_p.F103F	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1567					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCTGCTGGGTGAAATTGTGTT	0.557000														122			13		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84537235	84537235	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:84537235C>T	uc004eer.2	-	15	1884	c.1738G>A	c.(1738-1740)Gag>Aag	p.E580K	POF1B_uc004ees.3_Missense_Mutation_p.E580K	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	580							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TCTGTTTTCTCAATCACAATA	0.368000														14			16		0	0	1	0	0
TMEM5	10329	broad.mit.edu	37	12	64202844	64202844	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:64202844G>A	uc001srq.1	+	5	1408	c.1304G>A	c.(1303-1305)aGc>aAc	p.S435N	TMEM5_uc001srs.1_Missense_Mutation_p.S175N	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	Homo sapiens transmembrane protein 5 (TMEM5), mRNA.	435						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		ATTTTAGAAAGCTCATTTTTA	0.249000														34			8		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87170679	87170679	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87170679G>A	uc003uiz.2	-	18	2806	c.2313C>T	c.(2311-2313)ttC>ttT	p.F771F	ABCB1_uc011khc.2_Silent_p.F707F	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	771	ABC transmembrane type-1 2.				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)	TTACCTGAAGGAAAAATGTAA	0.299000														42			19		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149867	153149867	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:153149867C>T	uc011dcy.2	+	12	2219	c.2192C>T	c.(2191-2193)aCc>aTc	p.T731I	GRIA1_uc003lva.4_Missense_Mutation_p.T721I|GRIA1_uc003luy.4_Missense_Mutation_p.T721I|GRIA1_uc003luz.4_Missense_Mutation_p.T626I|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.T641I|GRIA1_uc011dcx.2_Missense_Mutation_p.T652I|GRIA1_uc011dcz.2_Missense_Mutation_p.T731I	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	721					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTGGAGTCCACCATGAATGAG	0.502000														47			15		0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44415468	44415468	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44415468C>T	uc001ckx.3	+	1	1259	c.464C>T	c.(463-465)tCa>tTa	p.S155L		NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	155					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GCTGAGGACTCACCAGTGGAT	0.617000														24			6		0	0	1	0	0
MEGF9	1955	broad.mit.edu	37	9	123476144	123476144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:123476144G>A	uc004bkj.2	-	0	622	c.469C>T	c.(469-471)Ccg>Tcg	p.P157S	MEGF9_uc022bms.1_Missense_Mutation_p.P165S|MEGF9_uc004bkk.4_Missense_Mutation_p.P157S	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	Homo sapiens multiple EGF-like-domains 9 (MEGF9), mRNA.	165	Pro-rich.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						GTGGGCGCCGGTACGGTGGTC	0.726000														26			15		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94052354	94052354	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94052354G>A	uc003ung.1	+	39	2960	c.2489G>A	c.(2488-2490)cGa>cAa	p.R830Q	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	830			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	p.G829V(1)	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)	CCAGTTGGCCGAACTGGAGAA	0.562000										HNSCC(75;0.22)				92			40		0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40669560	40669560	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:40669560C>T	uc011aor.2	+	6	3308	c.3097C>T	c.(3097-3099)Cac>Tac	p.H1033Y	TNRC6B_uc003aym.3_Missense_Mutation_p.H286Y|TNRC6B_uc003ayn.4_Missense_Mutation_p.H980Y|TNRC6B_uc003ayo.3_Missense_Mutation_p.H837Y	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1033					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						TGCTTCCTCCCACAACTCAGC	0.552000														4			4		0	0	1	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091012	11091013	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:11091012_11091013GG>AA	uc010shi.2	-	0	794_795	c.794_795CC>TT	c.(793-795)tcc>tTT	p.S265F	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Non-coding_Transcript	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	Homo sapiens taste receptor, type 2, member 14 (TAS2R14), mRNA.	265					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CCATCACCTGGGAAAGAATAAT	0.421000														124			11		0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202185	248202185	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248202185C>T	uc001idw.3	+	0	712	c.616C>T	c.(616-618)Ctt>Ttt	p.L206F	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CACCATCTTTCTTGTGCTTCC	0.478000														255			28		0	0	1	0	0
NUMBL	9253	broad.mit.edu	37	19	41188694	41188694	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41188694G>A	uc002oon.3	-	4	506	c.338C>T	c.(337-339)tCc>tTc	p.S113F	NUMBL_uc010xvq.2_Missense_Mutation_p.S72F|NUMBL_uc010xvr.2_Missense_Mutation_p.S72F|NUMBL_uc002ooo.3_Missense_Mutation_p.S113F	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	113	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	p.S113S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			AGACTTCACGGACTTTCGGCC	0.652000														60			19		0	0	1	0	0
LGI4	163175	broad.mit.edu	37	19	35622914	35622914	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35622914G>A	uc002nxx.2	-	3	941	c.347C>T	c.(346-348)tCt>tTt	p.S116F	LGI4_uc002nxy.1_5'UTR|LGI4_uc002nxz.1_5'UTR|LGI4_uc002nya.3_Missense_Mutation_p.S116F	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 4 (LGI4), mRNA.	116						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGCATTCTTAGAGATGGAGCC	0.607000														9			5		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150840933	150840933	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:150840933G>A	uc004fev.4	+	13	2048	c.1716G>A	c.(1714-1716)ctG>ctA	p.L572L		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	572						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)					agcagccactgaagcaTAATG	0.522000														27			7		0	0	1	0	0
PGF	5228	broad.mit.edu	37	14	75416173	75416173	+	Missense_Mutation	SNP	C	T	T	rs143175863		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75416173C>T	uc010ase.2	-	2	724	c.202G>A	c.(202-204)Gag>Aag	p.E68K	PGF_uc001xqz.3_Missense_Mutation_p.E68K|PGF_uc001xrb.3_Missense_Mutation_p.E68K|PGF_uc010asf.2_Silent_p.A53A	NM_001207012	NP_001193941	P49763	PLGF_HUMAN	Homo sapiens placental growth factor (PGF), transcript variant 2, mRNA.	68					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)		TGCTCCACCTCGCTGGGGTAC	0.652000														20			7		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104341555	104341555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104341555C>T	uc004bbp.2	-	6	3455	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	GRIN3A_uc004bbo.2_Missense_Mutation_p.E27K|GRIN3A_uc004bbq.1_Missense_Mutation_p.E952K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	952	PPP2CB binding site (By similarity).				response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ACTATGTGCTCACCAATGGTG	0.478000														44			8		0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	520865	520865	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:520865C>T	uc003gak.4	+	9	2243	c.2107C>T	c.(2107-2109)Ctc>Ttc	p.L703F	PIGG_uc003gaj.4_Missense_Mutation_p.L695F|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Missense_Mutation_p.L570F|PIGG_uc003gal.4_Missense_Mutation_p.L614F	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	703					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CCTGGCTGCCCTCTCCCTCCT	0.572000														35			14		0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	93879776	93879776	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:93879776G>A	uc001vlt.3	+	0	699	c.67G>A	c.(67-69)Gcg>Acg	p.A23T	GPC6_uc010tig.1_Missense_Mutation_p.A23T	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	23						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CCCCGCCGGGGCGGATGTGAA	0.627000											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		53			18		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221646	59221646	+	Silent	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:59221646C>G	uc010dps.1	+	10	2276	c.2124C>G	c.(2122-2124)ctC>ctG	p.L708L	CDH20_uc002lif.2_Silent_p.L702L	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	708					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)				TCGAGAGCCTCTCCCGCTACG	0.687000														51			14		0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59189838	59189838	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59189838C>T	uc010rkt.2	-	0	589	c.589G>A	c.(589-591)Gag>Aag	p.E197K		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GTCACCACCTCGCTGGTGAAG	0.478000														46			32		0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798094	55798094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55798094C>T	uc010riw.2	+	0	200	c.200C>T	c.(199-201)tCt>tTt	p.S67F		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AGCAACTTATCTTTCTTAGAC	0.343000														53			25		0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88967948	88967948	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:88967948C>T	uc002fmm.2	-	1	557	c.268G>A	c.(268-270)Ggg>Agg	p.G90R	CBFA2T3_uc002fml.2_Missense_Mutation_p.G29R|CBFA2T3_uc010cif.1_Missense_Mutation_p.G29R|CBFA2T3_uc002fmn.2_Missense_Mutation_p.G90R	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	90	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGTGTGGCCCCCTGGGATGCG	0.687000			T	RUNX1	AML									32			11		0	0	1	0	0
GFPT1	2673	broad.mit.edu	37	2	69556865	69556865	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:69556865G>A	uc002sfi.2	-	15	1731	c.1548C>T	c.(1546-1548)tcC>tcT	p.S516S	GFPT1_uc002sfh.3_Silent_p.S498S	NM_001244710	NP_001231639	Q06210	GFPT1_HUMAN	Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.	516	SIS 1.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TTTCTTGCATGGAGATCCGAT	0.418000														90			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594547	179594547	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179594547C>T	uc021vsy.1	-	59	14926	c.14701G>A	c.(14701-14703)Gaa>Aaa	p.E4901K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1562K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5828	Ig-like 29.						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)			GCTGTTATTTCATTCCCGTCT	0.428000														53			35		0	0	1	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105379	60105379	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60105379C>T	uc001npd.3	+	1	327	c.313C>T	c.(313-315)Cct>Tct	p.P105S		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	105						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TTATCATTCACCTTACACCAT	0.408000														92			30		0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978303	10978303	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10978303G>A	uc001qyy.1	-	0	566	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	189					sensory perception of taste	integral to membrane	taste receptor activity	p.S189S(1)		breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGTAATTAGGGATAGTGTAAA	0.358000														64			32		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717552	13717552	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:13717552C>T	uc001rbt.2	-	12	2799	c.2620G>A	c.(2620-2622)Ggg>Agg	p.G874R		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	874					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATCGCCACCCCATGGATGCAG	0.527000														114			37		0	0	1	0	0
UBE2E2	7325	broad.mit.edu	37	3	23541152	23541152	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:23541152C>T	uc003ccg.2	+	3	461	c.281C>T	c.(280-282)cCc>cTc	p.P94L	UBE2E2_uc010hfc.2_Intron|MIR548AC_uc021wtz.1_Intron	NM_152653	NP_689866	Q96LR5	UB2E2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2E 2 (UBE2E2), mRNA.	94					ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						ATATTGGGACCCCCAGGATCT	0.398000														73			16		0	0	1	0	0
PKM2	5315	broad.mit.edu	37	15	72509755	72509755	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72509755G>A	uc002aty.2	-	2	525	c.241C>T	c.(241-243)Cat>Tat	p.H81Y	PKM2_uc010bit.1_Missense_Mutation_p.H86Y|PKM2_uc010uki.2_Missense_Mutation_p.H155Y|PKM2_uc002atx.2_Missense_Mutation_p.H81Y|PKM2_uc002atw.2_Missense_Mutation_p.H81Y|PKM2_uc010ukj.2_Intron|PKM2_uc010ukk.2_Intron|PKM2_uc002atv.2_Missense_Mutation_p.H116Y|PKM2_uc010biu.1_Missense_Mutation_p.H102Y	NM_002654	NP_002645	P14618	KPYM_HUMAN	Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 1, mRNA.	81					glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1)	13					Pyruvic acid(DB00119)	CTCACCTCATGAGTTCCATGA	0.507000														76			34		0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891895	5891895	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:5891895G>A	uc002kmx.1	-	0	209	c.168C>T	c.(166-168)gcC>gcT	p.A56A		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	56						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TCCCACAGAGGGCGATGAGCC	0.622000														30			9		0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124404084	124404085	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:124404084_124404085GG>AA	uc003vli.3	-	0	1597_1598	c.946_947CC>TT	c.(946-948)ccg>TTg	p.P316L		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	316						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GATGACCAGCGGAAGGCAGAAG	0.535000														134			63		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26165032	26165032	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26165032G>A	uc003abz.1	+	3	1399	c.1149G>A	c.(1147-1149)ggG>ggA	p.G383G	MYO18B_uc003aca.1_Silent_p.G264G|MYO18B_uc010guy.1_Silent_p.G264G|MYO18B_uc010guz.1_Silent_p.G264G|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	383						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						GCACGACTGGGAAGGCAGGTG	0.582000														20			11		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79458278	79458278	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:79458278G>A	uc003hlb.2	+	71	11662	c.11222G>A	c.(11221-11223)gGg>gAg	p.G3741E		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3736					cell communication	integral to membrane|plasma membrane	metal ion binding	p.P3740H(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GATCCCACGGGGACAATCTAC	0.423000														54			33		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14781671	14781671	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:14781671C>T	uc001rcd.3	-	20	2295	c.2158_splice	c.e20-1	p.V720_splice		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	720	Protein kinase.				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						AGTAGGTACACCTGGAAGAAA	0.363000														72			14		0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48519169	48519169	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:48519169C>T	uc002pht.3	+	3	406	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	76	Fibronectin type-II 2.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GCTGTATCTTCCCTTTCATCT	0.458000														49			19		0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86389422	86389422	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:86389422C>T	uc003ydk.2	+	5	761	c.581C>T	c.(580-582)cCa>cTa	p.P194L	CA2_uc022axe.1_5'Flank	NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	194					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TGGACCTACCCAGGCTCACTG	0.512000														240			32		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43614358	43614358	+	Silent	SNP	G	A	A	rs142184960		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:43614358G>A	uc003bdt.2	-	14	1921	c.1794C>T	c.(1792-1794)gtC>gtT	p.V598V		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	598					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CAGTGCCTGAGACCTGGACAT	0.647000														102			75		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65623883	65623883	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65623883C>T	uc002aos.2	-	7	1515	c.1263G>A	c.(1261-1263)gaG>gaA	p.E421E	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	421										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CGGGGAGCCCCTCAGCCCACA	0.617000														29			9		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49176534	49176534	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49176534G>A	uc001rsh.4	-	0	1344	c.684C>T	c.(682-684)ctC>ctT	p.L228L	ADCY6_uc001rsi.4_Silent_p.L228L|ADCY6_uc001rsj.4_Silent_p.L228L	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	228					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGTCTGCTGCGAGAGCGCCCC	0.667000														11			3		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42880695	42880695	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42880695C>T	uc002otl.4	+	40	8740	c.8105C>T	c.(8104-8106)aCt>aTt	p.T2702I	MEGF8_uc002otm.4_Missense_Mutation_p.T2310I|MEGF8_uc002otn.4_Missense_Mutation_p.T363I	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2769						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)				GGGCCCATCACTCTCGAGCCC	0.721000														5			3		0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54872769	54872769	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54872769G>A	uc002qfk.1	-	2	428	c.118C>T	c.(118-120)Ccc>Tcc	p.P40S	LAIR1_uc002qfl.1_Missense_Mutation_p.P40S|LAIR1_uc002qfm.1_Missense_Mutation_p.P39S|LAIR1_uc002qfn.1_Missense_Mutation_p.P39S|LAIR1_uc010yex.2_Missense_Mutation_p.P33S|LAIR1_uc002qfo.3_Missense_Mutation_p.P22S	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	40	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CTCCCCAGGGGGATCACGGTG	0.577000														151			54		0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241725561	241725561	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:241725561C>T	uc009xgp.3	+	6	855	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	KMO_uc001hyy.3_Missense_Mutation_p.R222C|KMO_uc009xgo.2_Missense_Mutation_p.R222C	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	182					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GAAGAAACCTCGCTTTGATTA	0.438000														120			30		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40438554	40438554	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:40438554G>A	uc003gvc.2	-	4	1944	c.1234C>T	c.(1234-1236)Cat>Tat	p.H412Y	RBM47_uc003gvd.2_Intron|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.H374Y	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	412						nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TTCCCTTCATGATATCGGCTA	0.522000														238			19		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121384953	121384953	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121384953G>A	uc001pxx.3	+	7	1263	c.1134G>A	c.(1132-1134)gaG>gaA	p.E378E		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	378					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGAGGCAGAGGGGCTGAAGT	0.522000														92			6		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200894	132200894	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:132200894C>T	uc002tst.2	-	0	1574	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		TACAGCTGCTCCACCAGGCCG	0.627000														15			5		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39085814	39085814	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:39085814G>A	uc002rrf.3	-	5	1675	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Nonsense_Mutation_p.R526*	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	526							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.F525F(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TGTTTCATTCGGAACTGCTTG	0.413000														198			86		0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55672734	55672734	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55672734G>A	uc002qjl.1	-	6	922	c.920C>T	c.(919-921)gCc>gTc	p.A307V	DNAAF3_uc002qjh.1_Missense_Mutation_p.A54V|DNAAF3_uc002qji.1_Missense_Mutation_p.A239V|DNAAF3_uc002qjj.1_Missense_Mutation_p.A286V|DNAAF3_uc002qjk.1_Missense_Mutation_p.A185V	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA.	239																	GAGTTCAAAGGCGACGCCTGT	0.667000														15			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9009703	9009703	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9009703G>A	uc002mkp.3	-	38	39227	c.39023C>T	c.(39022-39024)cCt>cTt	p.P13008L	MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13010					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						CACCAGGAGAGGAACAGCTGC	0.453000														111			37		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12336400	12336400	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12336400C>T	uc001atv.3	+	18	2896	c.2755C>T	c.(2755-2757)Ccc>Tcc	p.P919S	VPS13D_uc001atw.3_Missense_Mutation_p.P919S|VPS13D_uc001atx.3_Missense_Mutation_p.P107S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	919					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAAGATTTTTCCCCAGGAGGA	0.438000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		42			14		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8136997	8136997	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8136997C>T	uc002mjf.3	-	61	8040	c.8023G>A	c.(8023-8025)Gaa>Aaa	p.E2675K	FBN3_uc002mje.3_Missense_Mutation_p.E471K	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2675						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.E2675G(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATCTTGCATTCGTAGCAGGCT	0.662000														147			63		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159912807	159912807	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159912807G>A	uc001fur.2	-	2	391	c.193C>T	c.(193-195)Ccc>Tcc	p.P65S	IGSF9_uc001fuq.2_Missense_Mutation_p.P65S	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	65	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGAAGATGGGAAGCAGGAAT	0.612000														51			13		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113075045	113075045	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113075045C>T	uc021qqp.1	+	2	531	c.159C>T	c.(157-159)ttC>ttT	p.F53F	NCAM1_uc001pno.3_5'UTR|NCAM1_uc001pnp.3_Silent_p.F53F|NCAM1_uc021qqo.1_Silent_p.F53F|NCAM1_uc001pnq.3_Silent_p.F53F|NCAM1_uc001pnr.3_Silent_p.F53F	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	55	Ig-like C2-type 1.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCTCCTGGTTCTCCCCCAATG	0.468000														25			8		0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148932900	148932900	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:148932900G>A	uc010pbc.1	+	1		c.215G>A			LOC645166_uc010pbd.1_Non-coding_Transcript|LOC645166_uc009wkw.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		TCAGTCTGCGGCCAAGACTCC	0.612000														146			8		0	0	1	0	0
CAMK2G	818	broad.mit.edu	37	10	75576685	75576685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:75576685G>A	uc001jvv.2	-	18	1640	c.1510C>T	c.(1510-1512)Ccc>Tcc	p.P504S	CAMK2G_uc001jvs.2_Intron|CAMK2G_uc001jvm.2_Intron|CAMK2G_uc001jvo.2_Intron|CAMK2G_uc001jvp.2_Intron|CAMK2G_uc001jvq.2_Intron|CAMK2G_uc001jvr.2_Intron|CAMK2G_uc001jvt.2_Intron|CAMK2G_uc009xrp.1_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II gamma (CAMK2G), transcript variant 1, mRNA.	0					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					TCAAATAAGGGAAAAGTGGGC	0.542000														43			17		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134126	233134126	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233134126C>A	uc001hvl.2	-	31	5897	c.5662G>T	c.(5662-5664)Gga>Tga	p.G1888*	PCNXL2_uc001hvk.1_Nonsense_Mutation_p.G540*|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1888						integral to membrane		p.G1888R(2)		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)				GCCCCTCCTCCGTCCACGTCT	0.617000														47			8		7.48243e-07	7.49908e-07	1	1	0
SLC8A2	6543	broad.mit.edu	37	19	47941126	47941126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:47941126C>T	uc010ele.3	-	5	2006	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K	SLC8A2_uc002pgx.3_Missense_Mutation_p.E664K|SLC8A2_uc010xyq.2_Missense_Mutation_p.E420K|SLC8A2_uc010xyr.2_Missense_Mutation_p.E127K			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	664					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TATGACTCCTCGATGATGACC	0.577000														92			45		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107744	55107744	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55107744G>A	uc002qgh.1	+	6	1231	c.1049G>A	c.(1048-1050)gGg>gAg	p.G350E	LILRA1_uc010yfg.1_Missense_Mutation_p.G348E|LILRA1_uc010yfh.2_Missense_Mutation_p.G350E	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	350	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CAGTCATGGGGGCCGTTCCAC	0.582000														86			41		0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58563491	58563491	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:58563491G>A	uc010tro.2	-	5	2352	c.2154C>T	c.(2152-2154)acC>acT	p.T718T	C14orf37_uc001xdc.3_Silent_p.T680T|C14orf37_uc001xdd.3_Silent_p.T680T	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	680						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GCACCTGGTAGGTAGCTCCCT	0.527000														34			19		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73490351	73490351	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73490351C>T	uc001jrx.4	+	29	4089	c.3699C>T	c.(3697-3699)gaC>gaT	p.D1233D	CDH23_uc001jrz.3_Silent_p.D1233D|C10orf105_uc001jsb.2_Intron|CDH23_uc001jsc.1_Silent_p.D43D	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1235	Cadherin 12.				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						AAGCCACAGACCGAGACTCTG	0.617000														43			9		0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784909	30784909	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30784909G>A	uc002wxn.2	-	2	1054	c.837C>T	c.(835-837)gcC>gcT	p.A279A		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	279						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGTCCCGAGAGGCCATGCACA	0.592000														51			19		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403730	47403730	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47403730C>T	uc001cqp.4	-	1	326	c.275G>A	c.(274-276)gGa>gAa	p.G92E	CYP4A11_uc001cqq.2_Missense_Mutation_p.G92E|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	92					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AACTTTGCCTCCCCATAGCCA	0.512000														107			34		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142120058	142120058	+	Missense_Mutation	SNP	C	T	T	rs141013676	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142120058C>T	uc022anf.1	-	1	153	c.124G>A	c.(124-126)Gat>Aat	p.D42N	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		AGAGTTACATCCTGTCCCCTC	0.468000														56			7		0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21563423	21563423	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:21563423G>A	uc009zzs.3	-	3	861	c.496C>T	c.(496-498)Cca>Tca	p.P166S	LATS2_uc001unr.4_Missense_Mutation_p.P166S	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	166					G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGCGTCACTGGGGTTGGCATG	0.607000														47			22		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28764623	28764623	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:28764623C>T	uc002rmb.2	+	12	868	c.824C>T	c.(823-825)tCc>tTc	p.S275F	PLB1_uc010ezj.2_Missense_Mutation_p.S286F	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	275	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAGCAGGAGTCCTTCACCGTG	0.592000														38			18		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198687314	198687314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:198687314C>T	uc001gur.1	+	13	1716	c.1536C>T	c.(1534-1536)ccC>ccT	p.P512P	PTPRC_uc001gut.1_Silent_p.P351P|PTPRC_uc009wzf.1_Silent_p.P400P|PTPRC_uc021pgy.1_Silent_p.P466P|PTPRC_uc010ppg.1_Silent_p.P448P	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	512	Fibronectin type-III 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GTAATGGCCCCCATGAACGTT	0.428000														55			19		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78322274	78322274	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:78322274C>T	uc003kfs.3	-	12	2169	c.2163G>A	c.(2161-2163)gaG>gaA	p.E721E	DMGDH_uc011cte.1_Silent_p.E571E|DMGDH_uc011ctf.1_Silent_p.E520E|DMGDH_uc011ctg.1_Silent_p.E341E	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	721					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TGAAGGCTTTCTCCAGGCGTA	0.423000														142			65		0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206224524	206224524	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:206224524C>T	uc001hds.2	+	0	242	c.84C>T	c.(82-84)ggC>ggT	p.G28G		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	28					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCTGGCTGGGCCGGGATGAGG	0.672000														257			88		0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113348734	113348734	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:113348734C>T	uc003ian.4	+	8	935	c.708C>T	c.(706-708)tcC>tcT	p.S236S	ALPK1_uc003iap.4_Silent_p.S236S|ALPK1_uc011cfx.2_Silent_p.S158S|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Silent_p.S64S	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	236							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGGGCCTCTCCACGTCGCTAG	0.383000														69			6		0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183777966	183777966	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183777966G>A	uc003fmk.3	+	8	1204	c.1170G>A	c.(1168-1170)ggG>ggA	p.G390G		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	390						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGTTAGCAGGGAAGAAGCTGG	0.607000														36			13		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270770	1270770	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1270770C>T	uc002cks.3	+	34	7086	c.6838C>T	c.(6838-6840)Cct>Tct	p.P2280S	CACNA1H_uc002ckt.3_Missense_Mutation_p.P2274S|CACNA1H_uc002cku.3_Missense_Mutation_p.P975S|CACNA1H_uc010brj.3_Missense_Mutation_p.P991S|CACNA1H_uc002ckv.3_Missense_Mutation_p.P969S	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2280					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)	CAGTGGAGACCCTTTCTTGGA	0.652000														62			23		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524985	112524985	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:112524985C>T	uc001ebu.1	-	1	844	c.364G>A	c.(364-366)Ggc>Agc	p.G122S	KCND3_uc001ebv.1_Missense_Mutation_p.G122S	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	122						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGGAGGATGCCGTAGAAGGCC	0.617000														71			10		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158581078	158581078	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158581078G>A	uc001fst.1	-	51	7435	c.7236C>T	c.(7234-7236)ttC>ttT	p.F2412F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2412				GRSHLSGYDYVGFTNSYFGN -> VEAISLAMTTLASPIPT LATNKQLLVDRRKS (in Ref. 1; AAA60577/ AAA60994).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGGAATTGGTGAAGCCAACGT	0.483000														45			15		0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216737577	216737577	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:216737577C>T	uc001hkw.2	-	4	1019	c.846G>A	c.(844-846)tgG>tgA	p.W282*	ESRRG_uc009xdp.1_Nonsense_Mutation_p.W259*|ESRRG_uc001hky.1_Nonsense_Mutation_p.W259*|ESRRG_uc001hkz.2_Nonsense_Mutation_p.W220*|ESRRG_uc010puc.2_Nonsense_Mutation_p.W259*|ESRRG_uc001hla.2_Nonsense_Mutation_p.W259*|ESRRG_uc001hlb.2_Nonsense_Mutation_p.W259*|ESRRG_uc010pud.2_Nonsense_Mutation_p.W97*|ESRRG_uc021pja.1_Nonsense_Mutation_p.W31*|ESRRG_uc001hlc.1_Nonsense_Mutation_p.W259*|ESRRG_uc001hld.1_Nonsense_Mutation_p.W259*|ESRRG_uc001hkx.2_Nonsense_Mutation_p.W294*|ESRRG_uc009xdo.2_Nonsense_Mutation_p.W259*|ESRRG_uc001hle.2_Nonsense_Mutation_p.W259*|ESRRG_uc021piz.1_Nonsense_Mutation_p.W259*	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	282					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TATGCTTCGCCCATCCAATGA	0.423000														60			28		0	0	1	0	0
NSMCE4A	54780	broad.mit.edu	37	10	123730536	123730536	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:123730536G>A	uc001lfs.3	-	2	482	c.419C>T	c.(418-420)gCt>gTt	p.A140V	NSMCE4A_uc009xzv.3_Missense_Mutation_p.A140V|NSMCE4A_uc010qtu.1_5'UTR|NSMCE4A_uc001lfu.2_Missense_Mutation_p.A140V	NM_017615	NP_060085	Q9NXX6	NSE4A_HUMAN	Homo sapiens non-SMC element 4 homolog A (S. cerevisiae) (NSMCE4A), transcript variant 1, mRNA.	140										breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				CAAATCTGAAGCCAAAACAAG	0.393000														42			17		0	0	1	0	0
NNMT	4837	broad.mit.edu	37	11	114167333	114167333	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:114167333G>A	uc001por.1	+	2	319	c.55G>A	c.(55-57)Gat>Aat	p.D19N	NNMT_uc001pos.1_Missense_Mutation_p.D19N	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	19					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TAACCCTCGGGATTACCTAGA	0.428000														74			33		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111551725	111551725	+	Missense_Mutation	SNP	G	A	A	rs150003283	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:111551725G>A	uc010yxk.1	+	4	543	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	107					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GATCCAGACCGAAGCCACCTT	0.537000														62			14		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576899	28576899	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28576899C>T	uc002kwj.4	-	14	2506	c.2351G>A	c.(2350-2352)gGa>gAa	p.G784E	DSC3_uc002kwi.4_Missense_Mutation_p.G784E	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	784					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.G784E(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTGGTTTCCTCCTTTCATCAT	0.498000														47			21		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582833	120582833	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:120582833G>A	uc001txo.3	-	39	5062	c.5049C>T	c.(5047-5049)gcC>gcT	p.A1683A		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1683				A -> V (in Ref. 7; AAC51648).	regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTTCACCATGGCCCCAAGGG	0.577000														77			27		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19195292	19195292	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19195292G>A	uc002dfw.3	+	4	1105	c.774G>A	c.(772-774)gaG>gaA	p.E258E	SYT17_uc002dfx.3_Silent_p.E197E|SYT17_uc002dfy.3_Silent_p.E254E	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	258	C2 1.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TGTTTGAGGAGCGCTACACCT	0.572000														137			19		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10415830	10415830	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10415830C>T	uc002gmo.3	-	11	1136	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	348	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GACACTCTTTCATCTGAAGTA	0.428000														72			23		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130308020	130308020	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130308020G>A	uc010htl.3	+	10	4243	c.4212G>A	c.(4210-4212)ggG>ggA	p.G1404G	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1404	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GACCACCAGGGAAAAGGGTGA	0.433000														26			9		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39109233	39109233	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:39109233C>T	uc004abi.3	-	14	2528	c.2289G>A	c.(2287-2289)caG>caA	p.Q763Q	CNTNAP3_uc004abj.3_Silent_p.Q762Q|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.Q763Q	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	763	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCATCACAATCTGAGTGACTG	0.463000														27			17		0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130465869	130465869	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:130465869C>T	uc003qbw.3	-	11	1687	c.1359G>A	c.(1357-1359)agG>agA	p.R453R	SAMD3_uc003qbx.3_Silent_p.R453R	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	453										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TGAGCCTCTCCCTTTCTAAAT	0.443000														29			24		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4835915	4835915	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4835915C>T	uc001qne.1	+	1	521	c.429C>T	c.(427-429)ctC>ctT	p.L143L		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	143						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCCAGGACCTCTTCCGGAAGT	0.557000														57			13		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494093	55494093	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55494093G>A	uc021vbq.1	+	5	1138	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	NLRP2_uc010yfp.2_Missense_Mutation_p.D320N|NLRP2_uc002qij.3_Missense_Mutation_p.D343N|NLRP2_uc010esp.3_Missense_Mutation_p.D321N|NLRP2_uc010esn.3_Missense_Mutation_p.D319N|NLRP2_uc010eso.3_Missense_Mutation_p.D340N	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	343	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGCCCTGAGGGACCTCCGGAT	0.627000														15			13		0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64824920	64824920	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64824920C>T	uc001ocn.3	-	3	542	c.526G>A	c.(526-528)Gag>Aag	p.E176K	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	176					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GTCTGTAGCTCCTTAAAGTCT	0.607000														49			22		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318780	30318780	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:30318780G>A	uc009xle.2	-	2	434	c.297C>T	c.(295-297)ccC>ccT	p.P99P	KIAA1462_uc001iux.3_Silent_p.P99P|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	99										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ATGCTGAGGGGGGTTGATTAC	0.512000														33			6		0	0	1	0	0
SHOX	6473	broad.mit.edu	37	X	605215	605215	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:605215C>T	uc004cph.1	+	5	1414	c.723C>T	c.(721-723)ttC>ttT	p.F241F	SHOX_uc004cpi.3_Intron	NM_000451	NP_000442	O15266	SHOX_HUMAN	Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.	241					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCTGATGTTCCCCCCGCCGC	0.736000														5			3		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94898020	94898020	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94898020G>A	uc003unp.3	+	12	3039	c.2757_splice	c.e12+1	p.K919_splice	PPP1R9A_uc010lfj.3_Splice_Site_p.K941_splice|PPP1R9A_uc011kif.2_Splice_Site_p.K919_splice|PPP1R9A_uc003unq.3_Splice_Site_p.K919_splice|PPP1R9A_uc011kig.2_Splice_Site_p.K919_splice|PPP1R9A_uc003unr.3_Splice_Site	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	919	Interacts with TGN38 (By similarity).					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)			AGAGAGAAAGGTGAGCACCCT	0.443000										HNSCC(28;0.073)				50			15		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189587118	189587118	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:189587118C>T	uc003fry.2	+	8	1224	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	TP63_uc003frx.2_Missense_Mutation_p.R379C|TP63_uc003frz.2_Missense_Mutation_p.R379C|TP63_uc010hzc.1_Missense_Mutation_p.R379C|TP63_uc003fsa.2_Missense_Mutation_p.R285C|TP63_uc003fsb.2_Missense_Mutation_p.R285C|TP63_uc003fsc.2_Missense_Mutation_p.R285C|TP63_uc003fsd.2_Missense_Mutation_p.R285C|TP63_uc021xir.1_Missense_Mutation_p.R285C|TP63_uc010hzd.1_Missense_Mutation_p.R200C|TP63_uc003fse.1_Missense_Mutation_p.R256C	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	379	Interaction with HIPK2.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R379C(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCAGCGTTTCGTCAGAACAC	0.363000										HNSCC(45;0.13)				53			13		0	0	1	0	0
C11orf42	160298	broad.mit.edu	37	11	6231270	6231270	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6231270G>A	uc001mcj.3	+	1	311	c.263G>A	c.(262-264)gGa>gAa	p.G88E		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	Homo sapiens chromosome 11 open reading frame 42 (C11orf42), mRNA.	88										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCAGGCAGGATCTGAGGGT	0.632000														38			20		0	0	1	0	0
KLC4	89953	broad.mit.edu	37	6	43034198	43034198	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43034198G>A	uc003otw.1	+	4	1099	c.780G>A	c.(778-780)gaG>gaA	p.E260E	KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otu.3_Silent_p.E242E|KLC4_uc003otv.1_Silent_p.E242E|KLC4_uc011dvd.1_Silent_p.E165E|KLC4_uc003otx.1_Silent_p.E242E|KLC4_uc003oty.1_Silent_p.E242E|KLC4_uc003otz.1_Silent_p.E242E	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	242						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AGGACCTGGAGCGCACATCAG	0.592000														70			18		0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49049243	49049243	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49049243C>T	uc003cvj.2	+	1	504	c.366C>T	c.(364-366)ctC>ctT	p.L122L	WDR6_uc011bbx.1_Intron|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Silent_p.L66L|WDR6_uc011bbz.1_Silent_p.L41L	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	92					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GCAAGGGACTCCGAGTTGTGA	0.557000														155			60		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64591999	64591999	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64591999G>A	uc001obs.4	-	36	4602	c.4602C>T	c.(4600-4602)gtC>gtT	p.V1534V		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1534					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						GCCGTTCTGAGACCTGCAGGA	0.577000														56			9		0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2740325	2740325	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:2740325C>T	uc003smr.1	+	1	601	c.240C>T	c.(238-240)ttC>ttT	p.F80F	AMZ1_uc003sms.1_Silent_p.F80F|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	80							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		TCCAGACCTTCCACGCCTCCC	0.667000														90			35		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123599975	123599975	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:123599975C>T	uc003vle.3	+	4	1921	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	SPAM1_uc011koa.1_Silent_p.F150F|SPAM1_uc003vld.3_Silent_p.F494F|SPAM1_uc022aks.1_Silent_p.F494F|SPAM1_uc003vlf.4_Silent_p.F494F|SPAM1_uc010lku.3_Silent_p.F494F	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	494					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)	CCACAATGTTCATTGTTAGTA	0.368000														76			30		0	0	1	0	0
DAND5	199699	broad.mit.edu	37	19	13084208	13084208	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:13084208C>T	uc002mwc.1	+	1	481	c.330C>T	c.(328-330)ttC>ttT	p.F110F	DAND5_uc010dyz.1_3'UTR	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	Homo sapiens DAN domain family, member 5 (DAND5), mRNA.	110	CTCK.					extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			CCCAGGTGTTCTCCCGGCCCG	0.622000														81			19		0	0	1	0	0
LYPD3	27076	broad.mit.edu	37	19	43965559	43965559	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43965559G>A	uc002owl.1	-	4	1093	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	LYPD3_uc002owm.3_3'UTR	NM_014400	NP_055215	O95274	LYPD3_HUMAN	Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA.	329						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				CCAGCTGTGGGAGCCACACAG	0.602000														29			12		0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155757553	155757553	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:155757553G>A	uc003qqm.3	-	7	901	c.798_splice	c.e7+1	p.S266_splice		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	266	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CATTCTTACCGAGGGTTCCTT	0.438000														65			32		0	0	1	0	0
WDR18	57418	broad.mit.edu	37	19	990989	990989	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:990989C>T	uc002lqm.1	+	4	761	c.735C>T	c.(733-735)ttC>ttT	p.F245F		NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	Homo sapiens WD repeat domain 18 (WDR18), mRNA.	245										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		TCGACCTCTTCACCTGGGTGA	0.652000														34			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222682	140222682	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140222682G>A	uc003lhs.2	+	0	1776	c.1776G>A	c.(1774-1776)gcG>gcA	p.A592A	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_uc003lhr.1_Silent_p.A592A	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	605					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)			ACGTGGTAGCGAAGGTGCGCG	0.697000														24			24		0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129664305	129664305	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:129664305G>A	uc003vpi.3	-	6	845	c.818C>T	c.(817-819)tCg>tTg	p.S273L	ZC3HC1_uc010lma.3_Missense_Mutation_p.S160L	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	273					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					CATACATTGCGAACATGTTAT	0.468000														33			17		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626169	142626169	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142626169G>A	uc003wby.1	-	4	798	c.534C>T	c.(532-534)atC>atT	p.I178I	TRPV5_uc003wbz.3_Silent_p.I178I	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	178					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCAGCCGCACGATCTCCTCGC	0.617000														31			10		0	0	1	0	0
RNMT	8731	broad.mit.edu	37	18	13746268	13746268	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:13746268G>C	uc002ksk.1	+	7	1256	c.1189G>C	c.(1189-1191)Gaa>Caa	p.E397Q	RNMT_uc002ksl.1_Missense_Mutation_p.E397Q|RNMT_uc002ksm.1_Missense_Mutation_p.E397Q|RNMT_uc010dlk.2_Missense_Mutation_p.E397Q|RNMT_uc010xae.1_Non-coding_Transcript	NM_003799	NP_003790	O43148	MCES_HUMAN	Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA.	397					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	RNA binding|mRNA (guanine-N7-)-methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AACATTTCTGGAATTCTACGA	0.308000														84			32		0	0	1	0	0
CTRC	11330	broad.mit.edu	37	1	15766993	15766993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:15766993C>T	uc001awi.1	+	2	160	c.137C>T	c.(136-138)tCc>tTc	p.S46F	CTRC_uc001awj.1_Missense_Mutation_p.S46F	NM_007272	NP_009203	Q99895	CTRC_HUMAN	Homo sapiens chymotrypsin C (caldecrin) (CTRC), mRNA.	46	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		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)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCAGATCTCCCTCCAGTAC	0.617000														21			16		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725545	140725545	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140725545C>T	uc003ljm.2	+	0	1945	c.1945C>T	c.(1945-1947)Cac>Tac	p.H649Y	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.H649Y	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	651	Cadherin 6.				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)			CGTCCAGGACCACGGCCAGCC	0.711000														112			26		0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120192591	120192591	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:120192591C>T	uc003ics.4	+	14	2642	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	USP53_uc003icr.4_Nonsense_Mutation_p.R526*|USP53_uc003icu.4_Nonsense_Mutation_p.R149*|USP53_uc003ict.3_Nonsense_Mutation_p.R149*	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	526					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACCTCAGAGTCGAGCTTCTGC	0.398000														71			31		0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15410457	15410457	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:15410457C>T	uc003nbj.3	+	2	428	c.184C>T	c.(184-186)Ctc>Ttc	p.L62F	JARID2_uc011diu.1_5'UTR|JARID2_uc011div.2_5'UTR|JARID2_uc011diw.1_Missense_Mutation_p.L24F	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	62					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACCTGTAGGGCTCCTTGGTAA	0.463000														82			33		0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6790008	6790008	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6790008G>A	uc001meq.1	-	0	181	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCAAGCAGGAGGTACATGGGC	0.522000														161			11		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784504	82784504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82784504C>T	uc003uhx.2	-	1	1742	c.1453G>A	c.(1453-1455)Ggc>Agc	p.G485S	PCLO_uc003uhv.2_Missense_Mutation_p.G485S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	435	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				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						TTTGCTGGGCCAGGCTGTTGA	0.607000														106			40		0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1079932	1079932	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:1079932G>A	uc002lqz.1	+	12	1749	c.1518G>A	c.(1516-1518)acG>acA	p.T506T	HMHA1_uc010xgd.1_Silent_p.T522T|HMHA1_uc010xge.1_Silent_p.T346T|HMHA1_uc002lra.1_Silent_p.T346T|HMHA1_uc002lrb.1_Silent_p.T389T|HMHA1_uc002lrc.1_Silent_p.T141T	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	506					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CGCAGGCCACGATCTCCTACT	0.677000														115			59		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41009435	41009435	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41009435C>T	uc003jmj.4	-	31	3857	c.3367G>A	c.(3367-3369)Gac>Aac	p.D1123N	HEATR7B2_uc003jmi.4_Missense_Mutation_p.D678N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1123							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						TCCAGTTTGTCTATTAAGGCT	0.507000														78			29		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55968569	55968569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:55968569G>A	uc003has.3	-	13	2396	c.2094C>T	c.(2092-2094)atC>atT	p.I698I	KDR_uc003hat.1_Silent_p.I698I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	698	Ig-like C2-type 7.				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			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)	TAAACCACATGATCTGTGGAG	0.458000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				85			51		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36069802	36069802	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:36069802G>A	uc003gsq.2	-	32	5180	c.4842C>T	c.(4840-4842)caC>caT	p.H1614H	ARAP2_uc003gso.3_Intron	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1614					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						GCTCCAGGCAGTGGGCCACCA	0.522000														135			27		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671766	125671766	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:125671766G>A	uc010flu.3	+	23	4189	c.3825G>A	c.(3823-3825)atG>atA	p.M1275I	CNTNAP5_uc002tno.3_Missense_Mutation_p.M1274I	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1274					cell adhesion|signal transduction	integral to membrane	receptor binding	p.K1275T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CGAGCCAGATGAAGGAGAAGG	0.443000														86			38		0	0	1	0	0
TMEM151A	256472	broad.mit.edu	37	11	66062685	66062685	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66062685C>T	uc001ohl.3	+	1	1080	c.968C>T	c.(967-969)tCg>tTg	p.S323L		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	Homo sapiens transmembrane protein 151A (TMEM151A), mRNA.	323						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						GGCGCCAGCTcgcccccgccg	0.716000														11			5		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94731275	94731275	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94731275G>A	uc001ycs.1	+	19	2342	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	730						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TAAAATGTTTGAAAAGAAACG	0.313000														127			40		0	0	1	0	0
LCE2D	353141	broad.mit.edu	37	1	152636718	152636718	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152636718C>T	uc021ozb.1	+	0	137	c.137C>T	c.(136-138)tCc>tTc	p.S46F	LCE2D_uc001fag.3_Missense_Mutation_p.S46F	NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	Homo sapiens late cornified envelope 2D (LCE2D), mRNA.	46	Cys-rich.				keratinization			p.S45C(1)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGTCTCTTCCTGCTGTGGT	0.632000														190			79		0	0	1	0	0
TM4SF4	7104	broad.mit.edu	37	3	149205458	149205458	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:149205458C>T	uc003exd.2	+	2	614	c.317C>T	c.(316-318)tCg>tTg	p.S106L		NM_004617	NP_004608	P48230	T4S4_HUMAN	Homo sapiens transmembrane 4 L six family member 4 (TM4SF4), mRNA.	106						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCTGGATACTCGTTTATCATC	0.502000														76			7		0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49918253	49918253	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49918253G>A	uc002pnm.2	+	17	1579	c.1374_splice	c.e17+1	p.T458_splice	CCDC155_uc010emx.2_Splice_Site_p.T429_splice	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.	458						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GCCAGGTCACGGTAGGCAGTC	0.592000														17			11		0	0	1	0	0
NMU	10874	broad.mit.edu	37	4	56471487	56471487	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:56471487G>A	uc003hbc.3	-	6	496	c.390C>T	c.(388-390)ctC>ctT	p.L130L	NMU_uc003hbd.1_Intron|NMU_uc010igv.1_Non-coding_Transcript|NMU_uc010igw.1_Silent_p.L45L|NMU_uc010igx.1_Intron	NM_006681	NP_006672	P48645	NMU_HUMAN	Homo sapiens neuromedin U (NMU), mRNA.	130					neuropeptide signaling pathway	extracellular region		p.Q129*(1)		lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		GGTGAGGAACGAGCTGCAGCA	0.502000														83			29		0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443930	5443930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5443930G>A	uc010qzd.2	+	0	590	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R167*(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTACTCAAGCGACTGCCTTTC	0.517000														226			106		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33140081	33140081	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33140081G>A	uc003ocx.1	-	39	3201	c.2973C>T	c.(2971-2973)ggC>ggT	p.G991G	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.G905G|COL11A2_uc003ocz.1_Silent_p.G884G	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	991	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGCCTGGGAGGCCTCTCTCTC	0.632000														7			3		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189868721	189868721	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189868721C>T	uc002uqj.1	+	38	2792	c.2675C>T	c.(2674-2676)cCc>cTc	p.P892L		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	892	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AACCCAGGACCCCCAGGTCCC	0.428000														25			4		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147016541	147016541	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:147016541G>A	uc010jgo.1	-	9	1749	c.1601C>T	c.(1600-1602)gCt>gTt	p.A534V	JAKMIP2_uc003loq.1_Missense_Mutation_p.A534V|JAKMIP2_uc011dbx.1_Missense_Mutation_p.A492V|JAKMIP2_uc003lor.1_Missense_Mutation_p.A534V|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	534						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTTTCTGAGCCAGAGTCGC	0.502000														254			27		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247607993	247607993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247607993C>T	uc001icr.3	+	9	3019	c.2881C>T	c.(2881-2883)Ctt>Ttt	p.L961F	NLRP3_uc001ics.3_Missense_Mutation_p.L904F|NLRP3_uc001icu.3_Missense_Mutation_p.L961F|NLRP3_uc001icw.3_Missense_Mutation_p.L904F|NLRP3_uc001icv.3_Missense_Mutation_p.L847F|NLRP3_uc010pyw.2_Missense_Mutation_p.L939F	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	961					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.D960N(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTGCTGGGATCTTTCCACACT	0.527000														49			22		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197189708	197189708	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:197189708C>T	uc002utm.1	-	5	920	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	HECW2_uc002utl.1_5'UTR	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	246	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCTTACCTCTCGGTGCCAAAT	0.512000														102			48		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172737294	172737294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:172737294C>T	uc003fin.4	-	3	1014	c.830G>A	c.(829-831)aGg>aAg	p.R277K		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	277					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTCTGAATACCTCTCCAGACA	0.348000														163			37		0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242755720	242755720	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242755720C>T	uc002wcp.2	+	1	572	c.78C>T	c.(76-78)ttC>ttT	p.F26F	NEU4_uc010fzr.3_Silent_p.F13F|NEU4_uc002wcm.3_Silent_p.F13F|NEU4_uc002wco.2_Silent_p.F13F|NEU4_uc002wcn.2_Silent_p.F25F	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	13						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CAGTGCTCTTCGAGCGGGAGA	0.697000														41			9		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27147881	27147881	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27147881C>A	uc002rhu.4	+	2	546	c.388C>A	c.(388-390)Ctc>Atc	p.L130I	DPYSL5_uc002rhv.4_Missense_Mutation_p.L130I|DPYSL5_uc021vev.1_Missense_Mutation_p.L130I	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	130					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATTACGCCCTCCACGTGGG	0.607000														33			13		0.000151284	0.000151487	1	1	0
FGA	2243	broad.mit.edu	37	4	155507766	155507766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155507766C>T	uc003iod.1	-	4	873	c.815G>A	c.(814-816)gGa>gAa	p.G272E	FGA_uc003ioe.1_Missense_Mutation_p.G272E|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	272					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGTGGAGCCTCCTCGAGTAAT	0.537000														121			63		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53241751	53241751	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53241751C>T	uc001sbc.1	-	1	603	c.539G>A	c.(538-540)cGa>cAa	p.R180Q		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	180	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity	p.R180L(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CAGAGCCCCTCGTTCTCCCTG	0.607000														58			8		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416107	86416107	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:86416107C>T	uc003uid.3	+	2	2098	c.999C>T	c.(997-999)ttC>ttT	p.F333F	GRM3_uc010lef.3_Silent_p.F331F|GRM3_uc010leg.3_Silent_p.F205F|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	333					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)	TCCGCCAGTTCGACCGCTACT	0.627000														25			17		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52536041	52536041	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52536041G>A	uc003dej.3	+	3	425	c.351G>A	c.(349-351)gaG>gaA	p.E117E	STAB1_uc003dei.1_Silent_p.E117E	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	117	EGF-like 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGGCGCTGAGACCCCATGCA	0.637000														43			14		0	0	1	0	0
IL2RA	3559	broad.mit.edu	37	10	6061852	6061852	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:6061852G>A	uc001iiz.2	-	4	855	c.636C>T	c.(634-636)tcC>tcT	p.S212S	IL2RA_uc009xih.2_Silent_p.S140S|IL2RA_uc001ija.1_Intron	NM_000417	NP_000408	P01589	IL2RA_HUMAN	Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	212					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TGACGAGGCAGGAAGTCTCAC	0.577000														86			35		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256171	15256171	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15256171C>T	uc001iob.3	-	7	1423	c.1416G>A	c.(1414-1416)atG>atA	p.M472I		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	472						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTTCTCTTTCCATAGATTTTC	0.468000														65			31		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880804	142880804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142880804C>T	uc011ksw.2	+	0	293	c.293C>T	c.(292-294)tCa>tTa	p.S98L		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	98					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.S98*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					ACCATCAGCTCAACCTCCCTA	0.388000														116			46		0	0	1	0	0
PYROXD1	79912	broad.mit.edu	37	12	21598304	21598304	+	Silent	SNP	C	T	T	rs3759228		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21598304C>T	uc001rew.3	+	2	316	c.189C>T	c.(187-189)ttC>ttT	p.F63F	PYROXD1_uc009ziq.3_5'UTR	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 1 (PYROXD1), mRNA.	63							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						TGGAAGAATTCGATGTTGAAG	0.284000														39			4		0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32955532	32955532	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:32955532C>T	uc001mty.3	+	3	2608	c.2341C>T	c.(2341-2343)Cat>Tat	p.H781Y	QSER1_uc001mtz.1_Missense_Mutation_p.H542Y|QSER1_uc001mua.3_Missense_Mutation_p.H286Y	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	781	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CAATGGTGATCATTCTCAGCA	0.403000														108			33		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322672	55322672	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55322672T>C	uc010rig.2	+	0	890	c.890T>C	c.(889-891)aTt>aCt	p.I297T		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H296Y(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GGATCTCACATTGCTGTTGTG	0.433000										HNSCC(20;0.049)				151			46		0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85327597	85327598	+	Missense_Mutation	DNP	CC	TT	TT	rs148220929		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:85327597_85327598CC>TT	uc002bld.3	+	3	2027_2028	c.1691_1692CC>TT	c.(1690-1692)ccc>cTT	p.P564L	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	564					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N563T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCTCCAACCCCGTGCCCCTCT	0.594000														186			52		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321402	52321402	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:52321402G>A	uc003xqu.4	-	16	2883	c.2782C>T	c.(2782-2784)Ccc>Tcc	p.P928S	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	928					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.P127S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTTCCGGAGGGAGGCCAAGGA	0.647000														15			9		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86249817	86249817	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:86249817G>A	uc001dlj.3	-	49	4275	c.4200C>T	c.(4198-4200)ttC>ttT	p.F1400F	COL24A1_uc001dli.3_Silent_p.F536F|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Silent_p.F700F|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1400	Collagen-like 16.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGAATCCTTGGAAACCTGTCA	0.358000														76			28		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140201489	140201489	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140201489C>T	uc003lhl.2	+	0	129	c.129C>T	c.(127-129)ttC>ttT	p.F43F	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_uc003lhk.1_Silent_p.F43F|PCDHAC2_uc003lhj.1_Silent_p.F43F	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	57	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGAACCTTCGTTGGCCGCA	0.667000														127			28		0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279445	73279445	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:73279445C>T	uc003tzk.2	+	1	231	c.195C>T	c.(193-195)ccC>ccT	p.P65P	WBSCR28_uc003tzl.2_5'UTR	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	65						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				CCCACCTACCCCTGGGAGCTG	0.632000														185			43		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7720897	7720897	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7720897C>T	uc002giu.1	+	64	10053	c.10039C>T	c.(10039-10041)Cct>Tct	p.P3347S	DNAH2_uc010cnm.1_Missense_Mutation_p.P285S	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3347					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCTTCAGGTTCCTTGCTCCCC	0.537000														63			70		0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026917	182026917	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:182026917C>T	uc001goz.3	-	1	437	c.229G>A	c.(229-231)Gag>Aag	p.E77K	ZNF648_uc021pfu.1_Missense_Mutation_p.E77K	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E77D(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TTCTCTTCCTCTTTGCCCAGT	0.557000														53			19		0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288811	125288811	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125288811G>A	uc004bmn.1	-	0	762	c.762C>T	c.(760-762)ttC>ttT	p.F254F		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F254F(2)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGTAGGCACTGAAGAGGGTCC	0.542000														40			25		0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28619626	28619626	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:28619626C>T	uc002dqn.3	-	6	1223	c.631G>A	c.(631-633)Gat>Aat	p.D211N	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.D120N|SULT1A1_uc002dqi.3_Missense_Mutation_p.D120N|SULT1A1_uc002dqk.3_Missense_Mutation_p.D120N|SULT1A1_uc002dql.3_Missense_Mutation_p.D120N|SULT1A1_uc002dqm.3_Intron|SULT1A1_uc002dqp.3_Missense_Mutation_p.D120N	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	120					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						ACCTTCTGATCCAACAGAGTC	0.577000														110			28		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2959084	2959084	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:2959084C>T	uc003smv.3	-	17	2766	c.2432G>A	c.(2431-2433)aGg>aAg	p.R811K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	811					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)		CCACTCGTGCCTGTCCTGGTA	0.607000			Mis		DLBCL									48			27		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364016	22364016	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22364016G>A	uc002nqs.1	-	2	821	c.503C>T	c.(502-504)tCc>tTc	p.S168F		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	168					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)				ACATTTGTAGGAATTCTCTCT	0.338000														82			37		0	0	1	0	0
MLL5	55904	broad.mit.edu	37	7	104703895	104703895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:104703895C>T	uc003vcm.3	+	4	818	c.284C>T	c.(283-285)cCt>cTt	p.P95L	MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Missense_Mutation_p.P95L|MLL5_uc003vcl.3_Missense_Mutation_p.P95L|MLL5_uc010ljc.3_Missense_Mutation_p.P95L	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	95					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						TTTACCACTCCTAATTTTGAT	0.438000														101			37		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22134151	22134151	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22134151C>T	uc010tmd.2	+	0	855	c.855C>T	c.(853-855)ttC>ttT	p.F285F		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TGAATCCCTTCATTTACACCT	0.453000														71			16		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76395319	76395319	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:76395319C>T	uc021rkq.1	+	13	2549	c.2214C>T	c.(2212-2214)tcC>tcT	p.S738S	LMO7_uc010thv.2_Silent_p.S456S|LMO7_uc001vjt.1_Silent_p.S404S|LMO7_uc001vjv.3_Silent_p.S505S|LMO7_uc010thw.2_Silent_p.S355S|LMO7_uc001vjw.1_Silent_p.S411S	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	790						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TAAGGGAATCCCAAAATCAAA	0.453000														31			12		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65623988	65623988	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65623988G>A	uc002aos.2	-	7	1410	c.1158C>T	c.(1156-1158)acC>acT	p.T386T	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	386	Ig-like C2-type 4.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCCAGAAATGGTCAGTGTGC	0.547000														20			11		0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9408050	9408050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9408050G>A	uc002mlc.1	-	3	392	c.392C>T	c.(391-393)tCc>tTc	p.S131F		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	Homo sapiens zinc finger protein 699 (ZNF699), mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S131F(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGAGAACCAGGAATCATTCCT	0.363000														45			34		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36872942	36872942	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36872942G>A	uc003cgj.3	-	20	8248	c.8000C>T	c.(7999-8001)tCc>tTc	p.S2667F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2667					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGCTTTTGGGAAAGAATGGT	0.542000														14			4		0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187172781	187172781	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187172781C>T	uc003iyy.3	+	8	1080	c.1009C>T	c.(1009-1011)Cca>Tca	p.P337S	KLKB1_uc011clc.2_Missense_Mutation_p.P135S|KLKB1_uc011cld.2_Missense_Mutation_p.P299S	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	337	Apple 4.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTCTTTACTCCCAGAAGACTG	0.363000														80			27		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34123547	34123547	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34123547G>A	uc001bxm.1	-	27	4624	c.4447_splice	c.e27+1	p.A1483_splice	CSMD2_uc001bxn.1_Splice_Site_p.A1443_splice|CSMD2_uc001bxo.1_Splice_Site_p.A356_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1443	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTTTGTACCGATGCATGTTG	0.587000														83			27		0	0	1	0	0
TMEM133	83935	broad.mit.edu	37	11	100863137	100863138	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:100863137_100863138CC>TT	uc001pgf.3	+	0	327_328	c.98_99CC>TT	c.(97-99)ccc>cTT	p.P33L		NM_032021	NP_114410	Q9H2Q1	TM133_HUMAN	Homo sapiens transmembrane protein 133 (TMEM133), mRNA.	33						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		GTTACTTTCCCCTTGACTAAAG	0.426000														99			32		0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51771684	51771684	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:51771684C>T	uc001csl.3	-	6	766	c.661G>A	c.(661-663)Gga>Aga	p.G221R	TTC39A_uc001csk.3_Missense_Mutation_p.G186R|TTC39A_uc010ond.2_Missense_Mutation_p.G158R|TTC39A_uc010one.2_Missense_Mutation_p.G185R|TTC39A_uc010onf.2_Missense_Mutation_p.G189R|TTC39A_uc001csn.3_Missense_Mutation_p.G220R|TTC39A_uc001cso.1_Missense_Mutation_p.G217R|TTC39A_uc009vyy.1_Missense_Mutation_p.G158R	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	221							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TTCACTCCTCCTTCAAAGTGC	0.562000														78			34		0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916067	149916067	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:149916067G>A	uc001etn.3	-	11	2577	c.2221C>T	c.(2221-2223)Ccc>Tcc	p.P741S		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	741					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TCCTGGTGGGGGTAGGGTCGC	0.637000														40			24		0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124528957	124528957	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:124528957C>T	uc004bln.3	+	8	1630	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C	DAB2IP_uc004blo.3_Missense_Mutation_p.R425C|DAB2IP_uc004blp.3_5'Flank	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	549	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCGCACTGCCCGCACCCTCAC	0.627000														184			25		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74015056	74015056	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74015056C>T	uc010wss.1	-	10	1451	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	EVPL_uc002jqi.2_Missense_Mutation_p.R408Q|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	408	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGGTTTCTTCGCTGTGGCAG	0.682000														13			4		0	0	1	0	0
MFSD7	84179	broad.mit.edu	37	4	680390	680390	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:680390G>A	uc003gay.3	-	1	282	c.225C>T	c.(223-225)taC>taT	p.Y75Y	MFSD7_uc003gaw.3_5'Flank|MFSD7_uc003gax.3_Silent_p.Y75Y|MFSD7_uc003gaz.3_Silent_p.Y53Y	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.	75					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						ATACCACGAGGTAGACCAGTG	0.627000														79			24		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123989933	123989933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:123989933C>T	uc001lfv.3	+	15	8465	c.8105C>T	c.(8104-8106)tCc>tTc	p.S2702F	TACC2_uc001lfw.3_Missense_Mutation_p.S848F|TACC2_uc009xzx.3_Intron|TACC2_uc010qtv.2_Intron|TACC2_uc001lfx.3_Intron|TACC2_uc001lfy.3_Intron|TACC2_uc001lfz.3_Missense_Mutation_p.S780F|TACC2_uc001lga.3_Intron|TACC2_uc009xzy.3_Intron|TACC2_uc001lgb.3_Intron	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2702						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)				GCTTTGGCTTCCCGCAGCCAC	0.592000														66			32		0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205197795	205197796	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205197795_205197796CC>TT	uc021pia.1	+	0	758_759	c.103_104CC>TT	c.(103-105)cct>TTt	p.P35F	TMCC2_uc010prf.2_5'Flank	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	35						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGACCTCCGGCCTGGGGAGACC	0.673000														27			17		0	0	1	0	0
SPSB1	80176	broad.mit.edu	37	1	9416153	9416153	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:9416153A>G	uc010oae.2	+	1	542	c.203A>G	c.(202-204)aAg>aGg	p.K68R	SPSB1_uc001apv.3_Missense_Mutation_p.K68R	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA.	68	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GTCTTTGTGAAGGAGGACGAC	0.577000														165			51		0	0	1	0	0
TMEM82	388595	broad.mit.edu	37	1	16069654	16069654	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16069654C>T	uc001axc.3	+	2	439	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	Homo sapiens transmembrane protein 82 (TMEM82), mRNA.	101	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGAGTTCTCCCTCCGGGCCGT	0.711000														26			13		0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800647	21800647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:21800647C>T	uc002zur.4	+	2	1693	c.1463C>T	c.(1462-1464)gCc>gTc	p.A488V	HIC2_uc002zus.4_Missense_Mutation_p.A488V	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	488					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GAGGAGGAGGCCGAGGACCTG	0.642000														43			11		0	0	1	0	0
TEX19	400629	broad.mit.edu	37	17	80320289	80320289	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:80320289G>A	uc002keq.3	+	1	573	c.263G>A	c.(262-264)gGa>gAa	p.G88E	TEX19_uc021ufp.1_Missense_Mutation_p.G88E	NM_207459	NP_997342	Q8NA77	TEX19_HUMAN	Homo sapiens testis expressed 19 (TEX19), mRNA.	88						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						CAGAGCCCAGGACAGCCTGTG	0.647000														58			13		0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62126323	62126323	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62126323C>T	uc002yfe.1	-	3	622	c.456G>A	c.(454-456)gtG>gtA	p.V152V		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	152						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CCATTTTGTTCACGCCCACGA	0.607000														96			13		0	0	1	0	0
MPZL2	10205	broad.mit.edu	37	11	118133292	118133292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118133292C>T	uc001psn.3	-	2	680	c.297G>A	c.(295-297)ggG>ggA	p.G99G	MPZL2_uc001pso.3_Silent_p.G99G	NM_005797	NP_658911	O60487	MPZL2_HUMAN	Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA.	99	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GCTCAGGATTCCCATCCCAAG	0.517000														59			5		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126079218	126079218	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:126079218G>A	uc003vlr.2	-	9	2993	c.2682C>T	c.(2680-2682)tcC>tcT	p.S894S	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_3'UTR|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	894					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S894F(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCTTGGTAGAGGAAGCTGTTA	0.289000										HNSCC(24;0.065)				122			55		0	0	1	0	0
RHOXF1	158800	broad.mit.edu	37	X	119249615	119249615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:119249615C>T	uc004esk.1	-	0	233	c.158G>A	c.(157-159)gGt>gAt	p.G53D	AK123976_uc004esi.1_Intron	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Homo sapiens Rhox homeobox family, member 1 (RHOXF1), mRNA.	53					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GTGGTTCACACCGCCCTCAGG	0.642000														30			42		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19411897	19411897	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19411897C>T	uc010tcj.1	-	0		c.34213G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		gagatcccaccactgcactcc	0.507000														29			16		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41758873	41758873	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41758873G>A	uc010ehj.3	+	16	2116	c.1926_splice	c.e16+1	p.V642_splice	AXL_uc010ehk.3_Splice_Site_p.V633_splice	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	642	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CCAGCCAGTGGTAAGGGGCGT	0.517000														65			16		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107221	14107221	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:14107221C>T	uc001avi.3	+	7	3787	c.2931C>T	c.(2929-2931)ccC>ccT	p.P977P	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Silent_p.P977P|PRDM2_uc021ogk.1_Silent_p.P740P|PRDM2_uc001avk.3_Silent_p.P776P|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	977	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CACCCTGTCCCCCGGTATTAA	0.607000														179			18		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92600089	92600089	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92600089C>T	uc001pdj.4	+	20	11858	c.11841C>T	c.(11839-11841)ttC>ttT	p.F3947F	FAT3_uc001pdi.4_Silent_p.F387F	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3947	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCTCTACTTCCAGACGCTGA	0.632000										TCGA Ovarian(4;0.039)				27			6		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993545	140993545	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140993545C>T	uc004fbt.3	+	3	679	c.355C>T	c.(355-357)Cct>Tct	p.P119S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	119							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)					TCAGAGCCCTCCTGAGGGTGA	0.522000										HNSCC(15;0.026)				57			40		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73678921	73678921	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:73678921C>T	uc002sje.1	+	7	5375	c.5264C>T	c.(5263-5265)tCc>tTc	p.S1755F	ALMS1_uc002sjf.1_Missense_Mutation_p.S1713F|ALMS1_uc002sjg.3_Missense_Mutation_p.S1143F|ALMS1_uc002sjh.1_Missense_Mutation_p.S1143F	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1755	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACTGTAACTTCCTCTTTCTAT	0.433000														138			14		0	0	1	0	0
SNX8	29886	broad.mit.edu	37	7	2297376	2297376	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:2297376G>A	uc003slw.3	-	7	1021	c.978C>T	c.(976-978)tcC>tcT	p.S326S		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	Homo sapiens sorting nexin 8 (SNX8), mRNA.	326					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		TCACCTTATAGGACTGCAGCA	0.567000														273			67		0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11918493	11918493	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11918493C>T	uc001atj.3	-	1	268	c.166G>A	c.(166-168)Gag>Aag	p.E56K		NM_002521	NP_002512	P16860	ANFB_HUMAN	Homo sapiens natriuretic peptide B (NPPB), mRNA.	56					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	ACCTGCAGCTCCGACAGTTTG	0.657000														31			17		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067218	190067218	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:190067218G>A	uc001gse.1	-	7	2463	c.2231C>T	c.(2230-2232)tCt>tTt	p.S744F	FAM5C_uc010pot.1_Missense_Mutation_p.S642F	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	744						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)					CTGCAGAGCAGATTGGATCCT	0.428000														109			47		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921209	24921209	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24921209C>T	uc001ywo.3	+	0	669	c.195C>T	c.(193-195)ttC>ttT	p.F65F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	65					cell differentiation|multicellular organismal development|spermatogenesis			p.F65F(2)		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)		CCAGCATCTTCGTCGCCCCTA	0.721000														35			11		0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14001207	14001207	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:14001207G>A	uc002mxl.1	-	5	521	c.462C>T	c.(460-462)ccC>ccT	p.P154P	C19orf57_uc002mxk.1_Silent_p.P36P	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	154					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCTCCTGGAGGGGGACCCCCA	0.682000														48			22		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034098	52034098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52034098G>A	uc002pwy.3	-	2	751	c.543C>T	c.(541-543)tcC>tcT	p.S181S	SIGLEC6_uc002pwz.3_Silent_p.S181S|SIGLEC6_uc010ydb.2_Silent_p.S145S|SIGLEC6_uc010ydc.2_Silent_p.S181S|SIGLEC6_uc002pxa.3_Silent_p.S181S|SIGLEC6_uc010eoz.2_Silent_p.S170S|SIGLEC6_uc010epa.2_Silent_p.S170S|SIGLEC6_uc010epb.2_Silent_p.S134S	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	181	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CTGACATCCAGGAGAAGATGG	0.652000														100			34		0	0	1	0	0
NEUROG1	4762	broad.mit.edu	37	5	134870797	134870797	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:134870797G>A	uc003lax.3	-	0	843	c.584C>T	c.(583-585)cCg>cTg	p.P195L		NM_006161	NP_006152	Q92886	NGN1_HUMAN	Homo sapiens neurogenin 1 (NEUROG1), mRNA.	195					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCAGAGAGCGGGGAGGCGGC	0.716000														40			6		0	0	1	0	0
KPTN	11133	broad.mit.edu	37	19	47986450	47986450	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:47986450G>A	uc002pgy.3	-	3	521	c.417C>T	c.(415-417)ctC>ctT	p.L139L	KPTN_uc010xys.2_Non-coding_Transcript|LOC100505681_uc021uwo.1_5'Flank	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	Homo sapiens kaptin (actin binding protein) (KPTN), mRNA.	139					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		GAGTGAACTGGAGCTCCAGGT	0.612000														177			81		0	0	1	0	0
OR11H1	81061	broad.mit.edu	37	22	16449127	16449127	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:16449127G>A	uc011agd.2	-	0	678	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 1 (OR11H1), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		TAATAAAGAGGAAGTTACCAA	0.433000														119			56		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45387767	45387767	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45387767C>T	uc001zun.3	-	30	4310	c.4107G>A	c.(4105-4107)gaG>gaA	p.E1369E	DUOX2_uc010bea.3_Silent_p.E1369E	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1369	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCTGATGGCCCTCTCCAAACG	0.562000														60			23		0	0	1	0	0
PLOD2	5352	broad.mit.edu	37	3	145806495	145806495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:145806495G>A	uc003evr.1	-	8	1389	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	PLOD2_uc003evq.1_5'Flank|PLOD2_uc011bnm.1_Missense_Mutation_p.H240Y|PLOD2_uc003evs.1_Missense_Mutation_p.H295Y	NM_182943	NP_891988	O00469	PLOD2_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA.	295					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	ACGTTTGGATGGACCTTTGTT	0.308000														52			9		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102337514	102337514	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:102337514G>A	uc003pqp.4	+	11	1818	c.1525_splice	c.e11-1	p.K509_splice	GRIK2_uc003pqn.3_Splice_Site_p.K509_splice|GRIK2_uc010kcw.3_Splice_Site_p.K509_splice|GRIK2_uc003pqo.4_Splice_Site_p.K509_splice|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	509					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)	TCTGTCTACAGAAAGCTGACC	0.318000														43			9		0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61387373	61387373	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61387373C>T	uc002ljk.4	+	6	770	c.599C>T	c.(598-600)cCt>cTt	p.P200L	SERPINB11_uc010xes.2_Missense_Mutation_p.P26L|SERPINB11_uc010dqd.3_Missense_Mutation_p.P87L|SERPINB11_uc002ljj.4_Missense_Mutation_p.P87L|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	201					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTTAAAAGTCCTTTTCAGCTA	0.328000														49			4		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412344	51412344	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:51412344C>T	uc001nhi.2	-	0	105	c.52G>A	c.(52-54)Gat>Aat	p.D18N		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACACCAGGATCCTGAGAAAAG	0.428000														38			16		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17228395	17228395	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:17228395G>A	uc002dfa.3	-	8	2047	c.1962C>T	c.(1960-1962)tcC>tcT	p.S654S		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	654					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGCGGGCAAAGGAGTGGTACA	0.622000														72			25		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388705	48388705	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48388705C>T	uc001jez.3	-	0	2287	c.2173G>A	c.(2173-2175)Gag>Aag	p.E725K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	725	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TAGGTGAGCTCCTCTGGAGAG	0.617000														34			23		0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094342	46094342	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46094342C>T	uc002pcm.3	-	1	1728	c.783G>A	c.(781-783)gaG>gaA	p.E261E	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.E261E	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	261						integral to plasma membrane	G-protein coupled receptor activity	p.E261*(3)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		AGACGCGCTCCTCGAAGCCGC	0.637000														57			8		0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58314292	58314292	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:58314292C>T	uc002enf.3	-	6	1419	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	PRSS54_uc002eng.3_Missense_Mutation_p.E342K|PRSS54_uc010vie.2_Missense_Mutation_p.E243K|CCDC113_uc002ene.3_3'UTR|CCDC113_uc010vid.2_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	342					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGCCTGATTCCTTTACATCC	0.473000														70			24		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	166958581	166958581	+	Nonstop_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:166958581T>A	uc011bpc.2	-	21	2857	c.2520A>T	c.(2518-2520)taA>taT	p.*840Y	ZBBX_uc003feq.3_Nonstop_Mutation_p.*772Y|ZBBX_uc003fep.3_Nonstop_Mutation_p.*801Y	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	0						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CAAATAATCTTTAAGTACTCT	0.388000														90			34		0	0	1	0	0
UBE2MP1	606551	broad.mit.edu	37	16	34404409	34404409	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:34404409C>T	uc002edv.1	-	0		c.354G>A								Homo sapiens ubiquitin-conjugating enzyme E2M pseudogene 1 (UBE2MP1), non-coding RNA.																		TTGTAGAAGCCCTCATCAGGA	0.502000														60			23		0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70260694	70260694	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70260694C>T	uc001opv.4	+	5	544	c.338C>T	c.(337-339)tCg>tTg	p.S113L	CTTN_uc001opu.3_Missense_Mutation_p.S113L|CTTN_uc001opw.4_Missense_Mutation_p.S113L	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	113						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AAGCACTGCTCGCAGGTGGAC	0.552000														97			28		0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116836979	116836979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:116836979C>T	uc003pwy.3	+	1	809	c.757C>T	c.(757-759)Cct>Tct	p.P253S	BET3L_uc011ebh.2_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA.	253						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		GAGGCCAGATCCTTTTCCCAT	0.478000														38			38		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147498554	147498554	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:147498554G>A	uc003lox.2	+	23	2319	c.2246G>A	c.(2245-2247)aGa>aAa	p.R749K	SPINK5_uc010jgs.1_Missense_Mutation_p.R721K|SPINK5_uc010jgr.2_Missense_Mutation_p.R730K|SPINK5_uc003low.2_Missense_Mutation_p.R749K|SPINK5_uc003loy.2_Missense_Mutation_p.R749K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	749	Kazal-like 11.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGGGAAAGAGAAGCAGAG	0.403000														100			11		0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46868965	46868965	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:46868965C>T	uc021tzm.1	-	9	1034	c.999_splice	c.e9-1	p.R333_splice	TTLL6_uc002iob.3_Splice_Site_p.R26_splice|TTLL6_uc010dbi.3_Splice_Site|TTLL6_uc002ioc.3_Splice_Site_p.R86_splice|TTLL6_uc002iod.3_Splice_Site_p.R180_splice	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	285	TTL.					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGGAGAGCTTCCTGGAAGGGA	0.562000											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			19		0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156757929	156757929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:156757929G>A	uc003ipe.1	-	7	1194	c.1147C>T	c.(1147-1149)Ccg>Tcg	p.P383S		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	383						integral to membrane|plasma membrane											ATAGTGGCCGGGTATTCTATT	0.363000														97			43		0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168073894	168073894	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:168073894G>A	uc010pln.2	-	2	789	c.255C>T	c.(253-255)ttC>ttT	p.F85F	GPR161_uc001gfb.3_Intron|GPR161_uc001gfc.3_Silent_p.F65F|GPR161_uc010pll.2_Intron|GPR161_uc010plm.2_Intron|GPR161_uc009wvo.3_Silent_p.F82F|GPR161_uc001gfd.3_Silent_p.F65F|GPR161_uc001gfe.1_Silent_p.F65F	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	65					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F65F(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GGCTGAAGACGAACTTGTTGC	0.517000														84			47		0	0	1	0	0
HEXA	3073	broad.mit.edu	37	15	72638913	72638914	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72638913_72638914GG>AA	uc002aun.4	-	10	1491_1492	c.1284_1285CC>TT	c.(1282-1287)ggccct>ggTTct	p.P429S	BC034424_uc002aug.3_Non-coding_Transcript|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Missense_Mutation_p.P440S|HEXA_uc010bix.3_Missense_Mutation_p.P429S|HEXA_uc010biy.2_Missense_Mutation_p.P292S|HEXA_uc010uko.1_Missense_Mutation_p.P255S	NM_000520	NP_000511	P06865	HEXA_HUMAN	Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.	429					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						TTCCAGTCAGGGCCATAGGATA	0.535000														206			111		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6167147	6167147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6167147C>T	uc001qnn.1	-	13	1847	c.1597G>A	c.(1597-1599)Gac>Aac	p.D533N	VWF_uc010set.1_Missense_Mutation_p.D533N	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	533	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	p.D533D(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGAAGTCGTCGCCCTGGTTG	0.662000														86			34		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115335717	115335717	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115335717C>T	uc001lai.4	+	3	388	c.285C>T	c.(283-285)ttC>ttT	p.F95F	HABP2_uc021pyr.1_Silent_p.F69F|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Missense_Mutation_p.S84L	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	95	EGF-like 1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		GGAGCACCTTCACATGCAGCT	0.527000														145			39		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102212	168102212	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:168102212G>A	uc002udx.3	+	8	4399	c.4310G>A	c.(4309-4311)cGa>cAa	p.R1437Q	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R1262Q|XIRP2_uc010fpq.3_Missense_Mutation_p.R1215Q|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1262					actin cytoskeleton organization	cell junction	actin binding	p.R1437*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACTATATACGAACAGTAAGT	0.338000														53			13		0	0	1	0	0
TSKU	25987	broad.mit.edu	37	11	76507492	76507492	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:76507492C>T	uc021qno.1	+	0	832	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	TSKU_uc001oxt.3_Silent_p.L278L	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	278						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GTTTTCAGGCCTGAGCTCCCT	0.672000														59			18		0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39974733	39974733	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39974733G>A	uc002hxv.2	+	3	1006	c.681G>A	c.(679-681)agG>agA	p.R227R	FKBP10_uc002hxw.1_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	227	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GAGAGAGAAGGAAGATTATCA	0.557000														18			9		0	0	1	0	0
ADRA2C	152	broad.mit.edu	37	4	3769561	3769561	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:3769561G>A	uc003ghm.3	+	0	1266	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K		NM_000683	NP_000674	P18825	ADA2C_HUMAN	Homo sapiens adrenergic, alpha-2C-, receptor (ADRA2C), mRNA.	410					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CATCTGCCGCGAGGCCTGCCA	0.592000														26			18		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51839476	51839476	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51839476G>A	uc010ufy.2	-	6	922	c.697C>T	c.(697-699)Cga>Tga	p.R233*	DMXL2_uc002abf.3_Nonsense_Mutation_p.R233*|DMXL2_uc010bfa.3_Nonsense_Mutation_p.R233*	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	233						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.R233Q(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTCACAGCTCGGGGATGTGCC	0.383000														82			28		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171584	150171584	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150171584C>T	uc003whj.3	+	3	1497	c.1167C>T	c.(1165-1167)atC>atT	p.I389I		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	389						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)		ATGGTCTCATCCAGAAGTGTA	0.428000														173			42		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32624481	32624481	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:32624481C>T	uc002yow.1	-	5	1460	c.988G>A	c.(988-990)Gag>Aag	p.E330K	TIAM1_uc011adk.1_Missense_Mutation_p.E330K|TIAM1_uc011adl.1_Missense_Mutation_p.E330K|TIAM1_uc002yox.1_5'UTR	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	330					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCTGCAAACTCACTGCCCTCG	0.572000														233			74		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263426	140263426	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140263426C>T	uc003lif.2	+	0	1573	c.1573C>T	c.(1573-1575)Cac>Tac	p.H525Y	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.H525Y|PCDHAC2_uc003lid.3_Missense_Mutation_p.H525Y	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	539	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGTTGGACCACGAGGAGCT	0.682000														193			18		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38924684	38924684	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38924684G>A	uc003jln.2	+	13	2433	c.2031G>A	c.(2029-2031)aaG>aaA	p.K677K	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	677	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GATTTGAAAAGGCAGTTCTTT	0.363000														115			43		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631951	32631951	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:32631951G>A	uc003zrg.1	-	0	3717	c.3627C>T	c.(3625-3627)gtC>gtT	p.V1209V	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.	1209					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)		AGGCATCAATGACAGCTGGTT	0.428000														96			61		0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42082636	42082636	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42082636C>T	uc002ore.4	+	0	106	c.10C>T	c.(10-12)Ccc>Tcc	p.P4S	CEACAM21_uc002orc.1_Intron|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Missense_Mutation_p.P4S	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	4						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CATGGGGCCCCCCTCAGCTTG	0.622000														43			10		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9402046	9402046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9402046C>T	uc021wam.1	+	22	2236	c.2221C>T	c.(2221-2223)Cgc>Tgc	p.R741C	PLCB4_uc010gbw.1_Missense_Mutation_p.R741C|PLCB4_uc010gbx.3_Missense_Mutation_p.R753C|PLCB4_uc021wal.1_Missense_Mutation_p.R741C|PLCB4_uc002wnh.3_Missense_Mutation_p.R588C	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	741	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTCCGAACTCGCATGGTTAT	0.388000														72			28		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56089407	56089407	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56089407C>A	uc001shh.3	-	13	2134	c.1914G>T	c.(1912-1914)aaG>aaT	p.K638N	ITGA7_uc001shg.3_Missense_Mutation_p.K634N|ITGA7_uc010sps.2_Missense_Mutation_p.K541N|ITGA7_uc009znw.3_5'UTR|ITGA7_uc009znx.3_Missense_Mutation_p.K515N	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	678					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CACAGCCTTGCTTCAGGAAGT	0.572000														57			20		1.10923e-09	1.11304e-09	1	1	0
RAB3B	5865	broad.mit.edu	37	1	52442595	52442595	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:52442595G>A	uc001cth.3	-	1	408	c.195C>T	c.(193-195)taC>taT	p.Y65Y		NM_002867	NP_002858	P20337	RAB3B_HUMAN	Homo sapiens RAB3B, member RAS oncogene family (RAB3B), mRNA.	65					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						TCTCGTGACGGTAGACTGTCT	0.562000														59			26		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48741088	48741088	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:48741088G>A	uc001zwx.2	-	45	5943	c.5548C>T	c.(5548-5550)Cgt>Tgt	p.R1850C	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1850	EGF-like 31; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CATTCATTACGATCTGTAAAT	0.348000														36			17		0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	132952778	132952778	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:132952778C>T	uc003yte.3	+	1	247	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	15						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTTGCGTCCTCGCTACAAACG	0.408000														13			13		0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031756	32031756	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:32031756G>A	uc011axg.2	+	1	1734	c.1185G>A	c.(1183-1185)ggG>ggA	p.G395G	ZNF860_uc021wuv.1_Silent_p.G395G	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G395G(3)		endometrium(3)|lung(4)|ovary(1)	8						ATGGTATAGGGAAACTTTATA	0.373000														78			18		0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7727852	7727852	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7727852G>A	uc003mxu.4	+	1	842	c.664_splice	c.e1+1	p.V222_splice		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	222					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TGTGAACCTGGGTAAGGATTT	0.647000														25			7		0	0	1	0	0
AK300121	0	broad.mit.edu	37	12	52648068	52648068	+	Silent	SNP	C	T	T	rs141667919	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52648068C>T	uc010snr.1	-	3	564	c.216G>A	c.(214-216)agG>agA	p.R72R	KRT86_uc010snq.2_Intron					SubName: Full=cDNA FLJ60029, highly similar to Keratin, type II cuticular Hb3;																		CATATAGCCGCCTCAGGAAGT	0.547000														41			16		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634419	70634419	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70634419A>G	uc001xly.3	-	1	1475	c.721T>C	c.(721-723)Ttt>Ctt	p.F241L	SLC8A3_uc001xlw.3_Missense_Mutation_p.F241L|SLC8A3_uc001xlx.3_Missense_Mutation_p.F241L|SLC8A3_uc001xlz.3_Missense_Mutation_p.F241L|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	241					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CACACTGGAAAGAAGAAGAGA	0.483000														42			18		0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19642357	19642357	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:19642357C>T	uc002gwk.3	-	6	1782	c.1519G>A	c.(1519-1521)Gat>Aat	p.D507N	ALDH3A1_uc010cqu.3_Missense_Mutation_p.D390N|ALDH3A1_uc010vzd.2_Missense_Mutation_p.D390N|ALDH3A1_uc002gwj.3_Missense_Mutation_p.D390N|ALDH3A1_uc010cqv.3_Missense_Mutation_p.D389N|ALDH3A1_uc002gwl.1_Missense_Mutation_p.D317N			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	390					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	ACGATGACATCGTTGGCCGCC	0.632000														13			18		0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72840925	72840925	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:72840925G>A	uc004ahm.2	+	13	2655	c.2038G>A	c.(2038-2040)Gac>Aac	p.D680N	MAMDC2_uc004ahn.2_Non-coding_Transcript|LOC100507299_uc004ahq.1_Intron|LOC100507299_uc022bhz.1_Intron	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	680						endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						ATATTCTGAGGACTTAAATGA	0.274000														68			14		0	0	1	0	0
AK300387	0	broad.mit.edu	37	16	32192678	32192678	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:32192678G>A	uc010vfv.1	-	4		c.668C>T								Homo sapiens cDNA FLJ60890 complete cds, moderately similar to HECT domain and RCC1-like domain-containing protein 2.																		GGCGTTCCGTGAACATCCCTG	0.542000														10			8		0	0	1	0	0
HOXA13	3209	broad.mit.edu	37	7	27238925	27238925	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:27238925G>A	uc003szb.1	-	0	801	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F	HOTTIP_uc022aau.1_5'Flank	NM_000522	NP_000513	P31271	HXA13_HUMAN	Homo sapiens homeobox A13 (HOXA13), mRNA.	258					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GGGCCCCCGAGGCCCGGCACC	0.657000			T	NUP98	AML									31			13		0	0	1	0	0
S100A8	6279	broad.mit.edu	37	1	153362973	153362973	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153362973G>A	uc001fbs.3	-	1	209	c.39C>T	c.(37-39)atC>atT	p.I13I		NM_002964	NP_002955	P05109	S10A8_HUMAN	Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.	13	EF-hand 1.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	p.I12I(1)		breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTAGACGTCGATGATAGAGT	0.498000														146			68		0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168066361	168066361	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:168066361G>A	uc010pln.2	-	3	1078	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S	GPR161_uc001gfb.3_Missense_Mutation_p.P30S|GPR161_uc001gfc.3_Missense_Mutation_p.P162S|GPR161_uc010pll.2_Missense_Mutation_p.P72S|GPR161_uc010plm.2_Missense_Mutation_p.P48S|GPR161_uc009wvo.3_Missense_Mutation_p.P179S|GPR161_uc001gfd.3_Missense_Mutation_p.P162S|GPR161_uc001gfe.1_Missense_Mutation_p.P162S	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	162					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCAAACAGGGGTGGCAGGCAG	0.572000														54			26		0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90254384	90254384	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90254384C>T	uc004apc.3	+	4	677	c.539C>T	c.(538-540)aCt>aTt	p.T180I	DAPK1_uc004ape.3_Missense_Mutation_p.T180I|DAPK1_uc004apd.3_Missense_Mutation_p.T180I|DAPK1_uc011ltg.2_Missense_Mutation_p.T180I|DAPK1_uc011lth.2_5'UTR	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	180	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ATATTTGGGACTCCAGAGTTT	0.398000									Chronic Lymphocytic Leukemia, Familial Clustering of					101			26		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6483972	6483972	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:6483972C>T	uc001iji.1	-	14	1902	c.1818G>A	c.(1816-1818)ctG>ctA	p.L606L	PRKCQ_uc001ijj.2_Silent_p.L573L|PRKCQ_uc009xim.2_Intron|PRKCQ_uc009xin.2_Silent_p.L537L|PRKCQ_uc010qax.2_Silent_p.L448L	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	573	Protein kinase.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ACTGACCAATCAGCATTTCAT	0.517000														67			29		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21309123	21309123	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:21309123G>A	uc001iqk.3	-	2	526	c.172C>T	c.(172-174)Ccg>Tcg	p.P58S	NEBL_uc021pnu.1_Missense_Mutation_p.P58S	NM_213569	NP_998734	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 2, mRNA.	720				RYKEEFKK -> VIKKSLKS (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GACTGCTTCGGGTAGTGTCTG	0.413000														104			8		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51729288	51729288	+	Silent	SNP	C	T	T	rs141510568	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51729288C>T	uc002pwa.2	+	2	688	c.648C>T	c.(646-648)ttC>ttT	p.F216F	CD33_uc010eos.1_Silent_p.F216F|CD33_uc010eot.1_Silent_p.F89F|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	216	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AGGTGAAGTTCGCTGGAGCTG	0.627000														37			16		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88764104	88764104	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:88764104C>T	uc001kee.2	+	9	1241	c.37C>T	c.(37-39)Cat>Tat	p.H13Y	AGAP11_uc001kef.3_Non-coding_Transcript	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	13					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GATACATCATCATATCACGGA	0.373000														235			100		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84605985	84605985	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:84605985C>T	uc004amn.3	+	3	647	c.600C>T	c.(598-600)ctC>ctT	p.L200L		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	200	Pro-rich.					integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CCTTAATTCTCTCACCTGACC	0.552000														75			44		0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584424	1584424	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:1584424C>T	uc022brv.1	-	0	1028	c.1028G>A	c.(1027-1029)gGg>gAg	p.G343E	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.G343E	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	343						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCCTCCATCCCTTCAGGGTG	0.711000			T	CRLF2	"""B-ALL, Downs associated ALL"""									81			33		0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35556516	35556516	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35556516C>T	uc002nxq.2	+	11	1226	c.981C>T	c.(979-981)ttC>ttT	p.F327F	HPN_uc002nxr.2_Silent_p.F327F|HPN_uc010xsh.1_Silent_p.F296F|HPN_uc002nxt.1_Silent_p.F211F|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	327	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GCGCTGACTTCTATGGAAACC	0.602000														70			38		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424593	56424593	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56424593C>T	uc010ygg.2	-	4	615	c.590G>A	c.(589-591)tGg>tAg	p.W197*		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	197							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTCTTTAGGCCAACTGATGTT	0.488000														168			12		0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455657	187455657	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187455657G>A	uc003izd.1	-	1	257	c.239C>T	c.(238-240)cCg>cTg	p.P80L		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	80					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	CAACGGGTACGGATAAATGGC	0.502000														49			21		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8420714	8420714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:8420714G>A	uc001ape.3	-	18	3663	c.2853C>T	c.(2851-2853)ctC>ctT	p.L951L	RERE_uc001apf.3_Silent_p.L951L|RERE_uc010nzx.1_Silent_p.L683L|RERE_uc001apd.3_Silent_p.L397L	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	951	Pro-rich.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGGGCCCCGAGAGGTGGGGAG	0.692000														51			18		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139189308	139189308	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:139189308G>A	uc003leu.1	+	1	488	c.283G>A	c.(283-285)Gag>Aag	p.E95K		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	95					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)			AGATTCAGCGGAGTCCAGGCC	0.612000														109			34		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135766	156135766	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:156135766G>A	uc003ioq.3	+	1	1164	c.675G>A	c.(673-675)ttG>ttA	p.L225L	NPY2R_uc003ior.3_Silent_p.L225L|NPY2R_uc021xtm.1_Silent_p.L225L	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	225					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CTTCCTTGTTGATCTTGTATG	0.443000														114			29		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109672146	109672146	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:109672146C>T	uc010agk.2	+	22	3305	c.2683C>T	c.(2683-2685)Ctc>Ttc	p.L895F	MYO16_uc001vqt.1_Missense_Mutation_p.L873F|MYO16_uc001vqu.1_Missense_Mutation_p.L673F|MYO16_uc010tjh.1_Missense_Mutation_p.L385F	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	873	Myosin head-like 2.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACTACAAAGTCTCCTAGAATC	0.423000														49			11		0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35381118	35381118	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35381118C>T	uc003zwr.3	+	17	2442	c.2150C>T	c.(2149-2151)gCc>gTc	p.A717V	UNC13B_uc003zwq.3_Missense_Mutation_p.A717V	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	717					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GACAAATCAGCCGTCTCAGGG	0.488000														34			6		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76868005	76868005	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:76868005G>A	uc001oyb.2	+	6	962	c.690G>A	c.(688-690)gcG>gcA	p.A230A	MYO7A_uc010rsl.2_Silent_p.A230A|MYO7A_uc010rsm.1_Silent_p.A219A|MYO7A_uc001oyc.2_Silent_p.A230A	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	230	Myosin head-like.				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						TCGAGGGCGCGAAGATTGAGC	0.582000														57			25		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119914839	119914839	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:119914839C>T	uc003vjj.1	+	0	1118	c.153C>T	c.(151-153)cgC>cgT	p.R51R		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	51					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.R51S(1)		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)					GTGGCACCCGCTTCCAGACGT	0.572000														291			17		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10081488	10081488	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10081488C>T	uc003buw.3	+	8	732	c.654C>T	c.(652-654)atC>atT	p.I218I	FANCD2_uc003bux.1_Silent_p.I218I|FANCD2_uc003buy.1_Silent_p.I218I|FANCD2_uc003buv.3_Silent_p.I218I	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	218	Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TACCTGAGATCCTAGGGGATT	0.512000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					81			18		0	0	1	0	0
PABPC1	26986	broad.mit.edu	37	8	101718929	101718929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:101718929G>A	uc003yjs.1	-	10	2056	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	PABPC1_uc011lhc.1_Missense_Mutation_p.R486C|PABPC1_uc011lhd.1_Missense_Mutation_p.R473C|PABPC1_uc003yjt.1_Missense_Mutation_p.R515C|PABPC1_uc003yju.2_Intron	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	518					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TGAGGATTGCGAACTCCTGCA	0.453000														74			36		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288840	107288840	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107288840G>A	uc011lvn.2	-	0	651	c.651C>T	c.(649-651)tcC>tcT	p.S217S		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGAACATATAGGAGAAAAAAA	0.408000														112			10		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144769802	144769802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:144769802C>T	uc003qkt.3	+	15	2061	c.1969C>T	c.(1969-1971)Cgt>Tgt	p.R657C	UTRN_uc010khq.1_Missense_Mutation_p.R657C	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	657	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.R657C(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGAGACTGTTCGTGTAAGAGA	0.423000														113			18		0	0	1	0	0
AK300387	0	broad.mit.edu	37	16	32190846	32190846	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:32190846G>A	uc010vfv.1	-	6		c.978C>T								Homo sapiens cDNA FLJ60890 complete cds, moderately similar to HECT domain and RCC1-like domain-containing protein 2.																		GGTACCTCAGGAAACTCTCAC	0.458000														32			6		0	0	1	0	0
BC043541	0	broad.mit.edu	37	1	43352829	43352829	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:43352829G>A	uc001cij.1	+	3		c.731G>A								Homo sapiens cDNA clone IMAGE:5170739.																		CCGCGTGGAGGAGCGGCGAGA	0.592000														16			10		0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6439002	6439002	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6439002G>A	uc001qnu.3	-	8	1302	c.999C>T	c.(997-999)ccC>ccT	p.P333P	TNFRSF1A_uc001qnt.3_Silent_p.P225P|TNFRSF1A_uc010sey.2_Silent_p.P101P|TNFRSF1A_uc010sez.2_Silent_p.P225P|TNFRSF1A_uc009zek.3_Silent_p.P290P	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	333					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GGTTGGGGATGGGGTCGGAGG	0.667000														6			5		0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185851	127185851	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:127185851G>A	uc004eum.3	-	0	532	c.335C>T	c.(334-336)tCt>tTt	p.S112F		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	112						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGGATTCAAAGAGGGCTCGGT	0.483000														98			133		0	0	1	0	0
RHO	6010	broad.mit.edu	37	3	129249780	129249780	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:129249780G>A	uc003emt.3	+	1	518	c.423G>A	c.(421-423)aaG>aaA	p.K141K		NM_000539	NP_000530	P08100	OPSD_HUMAN	Homo sapiens rhodopsin (RHO), mRNA.	141					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TGGTGTGTAAGCCCATGAGCA	0.637000														166			47		0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104912255	104912255	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:104912255G>A	uc001pip.1	-	2	493	c.466C>T	c.(466-468)Ctt>Ttt	p.L156F	CASP1_uc021qpt.1_Intron|CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc001pio.1_3'UTR	NM_001017534	NP_001017534	P29466	CASP1_HUMAN	Homo sapiens caspase recruitment domain family, member 16 (CARD16), transcript variant 1, mRNA.	0					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TTGGTTCTAAGAAAAAGCCAC	0.383000														88			46		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22663071	22663071	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22663071C>T	uc021wml.1	+	30		c.2429C>T			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GCCTGATTTTCGGATAGCTGC	0.303000														22			5		0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157740417	157740417	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157740417C>T	uc001fre.2	-	2	151	c.92G>A	c.(91-93)gGa>gAa	p.G31E	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.G31E|FCRL2_uc009wsp.2_Missense_Mutation_p.G31E|FCRL2_uc010pia.1_Missense_Mutation_p.G31E	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	31	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GATGCTGTCTCCTTCGAAGAC	0.453000														52			6		0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44488448	44488448	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:44488448G>A	uc003cnf.2	-	7	3063	c.2715C>T	c.(2713-2715)ttC>ttT	p.F905F	ZNF445_uc011azv.1_Silent_p.F893F|ZNF445_uc011azw.1_Silent_p.F905F	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	905					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GTCTCCCAATGAACTCTTTCC	0.483000														92			40		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124848315	124848315	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124848315G>A	uc021rga.1	-	20	2955	c.2838C>T	c.(2836-2838)acC>acT	p.T946T	NCOR2_uc021rgb.1_Silent_p.T929T|NCOR2_uc010tbb.2_Silent_p.T946T|NCOR2_uc010tbc.2_Silent_p.T928T|NCOR2_uc021rgc.1_Silent_p.T928T|NCOR2_uc010tba.2_Silent_p.T946T|NCOR2_uc001ugj.1_Silent_p.T946T	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	946					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGCCAGTCGGGGTGAGGAGGC	0.716000														56			30		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100226899	100226899	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:100226899C>T	uc001pga.3	+	24	3755	c.3251C>T	c.(3250-3252)tCg>tTg	p.S1084L	CNTN5_uc021qpb.1_Missense_Mutation_p.S1084L|CNTN5_uc021qpc.1_Missense_Mutation_p.S1010L|CNTN5_uc010ruk.2_Missense_Mutation_p.S355L	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	1084					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCCACATCTTCGTCATCAGTC	0.418000														20			6		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207643161	207643161	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207643161G>A	uc001hfw.3	+	5	1058	c.939G>A	c.(937-939)gtG>gtA	p.V313V	CR2_uc001hfv.3_Silent_p.V313V|CR2_uc009xch.3_Silent_p.V313V|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	313	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGGAAGGAGTGAACTTCATCC	0.483000														58			26		0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56557593	56557593	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56557593G>A	uc002iwi.1	-	1	710	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	196						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTATCTCGACGAAATGACCGG	0.433000														68			35		0	0	1	0	0
RPUSD4	84881	broad.mit.edu	37	11	126074205	126074205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:126074205C>T	uc001qde.3	-	5	869	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	RPUSD4_uc010sbl.2_Missense_Mutation_p.R79Q|RPUSD4_uc009zbz.3_Missense_Mutation_p.R241Q	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 4 (RPUSD4), transcript variant 1, mRNA.	272					pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity	p.R272*(1)		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)		CAAGTGAACTCGAAGCTGATG	0.413000														65			15		0	0	1	0	0
HMGB3P1	128872	broad.mit.edu	37	20	33421398	33421398	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33421398C>T	uc002xax.3	-	0		c.868G>A								Homo sapiens high mobility group box 3 pseudogene 1 (HMGB3P1), non-coding RNA.																		tccttctcttcctccccatct	0.393000														11			3		0	0	1	0	0
PDK2	5164	broad.mit.edu	37	17	48174904	48174904	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48174904C>T	uc002iqc.3	+	1	397	c.236C>T	c.(235-237)cCc>cTc	p.P79L	PDK2_uc002iqb.3_Missense_Mutation_p.P15L|PDK2_uc021tzw.1_Missense_Mutation_p.P79L|PDK2_uc021tzx.1_Missense_Mutation_p.P15L	NM_002611	NP_001186828	Q15119	PDK2_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 2 (PDK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	79					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CTGAGCACACCCTCCGTGCAG	0.612000									Autosomal Dominant Polycystic Kidney Disease					37			9		0	0	1	0	0
CNNM3	26505	broad.mit.edu	37	2	97494389	97494389	+	Nonsense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:97494389T>G	uc002swy.3	+	5	1896	c.1872T>G	c.(1870-1872)taT>taG	p.Y624*	CNNM3_uc002swz.3_Nonsense_Mutation_p.Y576*	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	Homo sapiens cyclin M3 (CNNM3), transcript variant 1, mRNA.	624					ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						CATCTGCGTATTGTCCCGACT	0.592000														35			23		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189586385	189586385	+	Nonsense_Mutation	SNP	C	T	T	rs113993966		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:189586385C>T	uc003fry.2	+	7	1098	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	TP63_uc003frx.2_Nonsense_Mutation_p.R337*|TP63_uc003frz.2_Nonsense_Mutation_p.R337*|TP63_uc010hzc.1_Nonsense_Mutation_p.R337*|TP63_uc003fsa.2_Nonsense_Mutation_p.R243*|TP63_uc003fsb.2_Nonsense_Mutation_p.R243*|TP63_uc003fsc.2_Nonsense_Mutation_p.R243*|TP63_uc003fsd.2_Nonsense_Mutation_p.R243*|TP63_uc021xir.1_Nonsense_Mutation_p.R243*|TP63_uc010hzd.1_Nonsense_Mutation_p.R158*|TP63_uc003fse.1_Nonsense_Mutation_p.R218*	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	337			R -> Q (in ADULT syndrome; confers novel transcription activation capacity on isoform 6).		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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R337L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGTCCTGGGCCGACGCTGCTT	0.478000										HNSCC(45;0.13)				68			17		0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46658501	46658501	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46658501C>T	uc003oyj.3	+	0	2890	c.2636C>T	c.(2635-2637)gCt>gTt	p.A879V	TDRD6_uc010jze.3_Missense_Mutation_p.A879V	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	879					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAGGCACAGGCTTTTAGGTGC	0.328000														131			42		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002441	98002441	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:98002441G>A	uc003dsj.1	+	0	710	c.710G>A	c.(709-711)aGa>aAa	p.R237K		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AAGTCTGTTAGAGGCGTAAGG	0.393000														67			22		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488152	24488152	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:24488152C>T	uc003jgr.2	-	11	2493	c.1987G>A	c.(1987-1989)Gga>Aga	p.G663R	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	663					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G663*(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)		TCCTCCTCTCCACCACCCTCA	0.453000										HNSCC(23;0.051)				95			34		0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70260710	70260710	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70260710C>T	uc001opv.4	+	5	560	c.354C>T	c.(352-354)gtC>gtT	p.V118V	CTTN_uc001opu.3_Silent_p.V118V|CTTN_uc001opw.4_Silent_p.V118V	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	118						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGGACTCGGTCCGTGGCTTCG	0.562000														103			22		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196398761	196398761	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:196398761G>A	uc001gtd.1	-	8	825	c.765C>T	c.(763-765)tcC>tcT	p.S255S	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Silent_p.S255S|KCNT2_uc001gtf.1_Silent_p.S255S|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Silent_p.S255S|KCNT2_uc009wyv.1_Silent_p.S230S	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	255						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAAAAAGCTTGGAGGACCATG	0.403000														67			27		0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338165	122338165	+	Missense_Mutation	SNP	G	A	A	rs113296018	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:122338165G>A	uc003vkj.1	-	0	1044	c.808C>T	c.(808-810)Cgt>Tgt	p.R270C	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	270						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	p.V269I(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GTCAGAATACGAACTATGTCA	0.388000														104			41		0	0	1	0	0
SRSF2	6427	broad.mit.edu	37	17	74733199	74733199	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74733199G>A	uc002jsy.4	-	0	295	c.44C>T	c.(43-45)tCc>tTc	p.S15F	SRSF2_uc010wtg.2_Missense_Mutation_p.S15F|SRSF2_uc002jsv.3_Missense_Mutation_p.S15F|SRSF2_uc002jsw.2_5'Flank|MFSD11_uc002jsz.1_Intron|MFSD11_uc002jta.2_Intron|MIR636_uc021udo.1_5'Flank|MFSD11_uc002jtd.4_5'Flank|MFSD11_uc002jtb.3_5'Flank|MFSD11_uc002jtc.3_5'Flank|MFSD11_uc002jte.3_5'Flank|MFSD11_uc010dhb.3_5'Flank|MFSD11_uc010dha.3_5'Flank	NM_001195427	NP_001182356	Q01130	SRSF2_HUMAN	Homo sapiens serine/arginine-rich splicing factor 2 (SRSF2), transcript variant 2, mRNA.	15	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding|protein binding|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CACCTTGAGGGAGGTCATACC	0.687000			Mis		"""MDS, CLL"""									7			3		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905119	55905119	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55905119G>A	uc010riz.2	-	0	76	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGGAAGAGGGGAATCTGGAGC	0.493000														132			41		0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47685725	47685725	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47685725C>T	uc001cqx.2	-	3	1240	c.663G>A	c.(661-663)aaG>aaA	p.K221K	TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Silent_p.K221K	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	221	Helix-loop-helix motif.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TGCTGAGCTTCTTGTCCGGGG	0.597000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									68			13		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61777953	61777953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:61777953C>T	uc003xue.3	+	37	8947	c.8455C>T	c.(8455-8457)Cct>Tct	p.P2819S	CHD7_uc022aux.1_Missense_Mutation_p.P770S	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2819					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTTGAATAACCCTCTGTCAGC	0.547000														18			4		0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209950791	209950792	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:209950791_209950792GG>AA	uc001hho.3	+	11	1568_1569	c.1148_1149GG>AA	c.(1147-1149)ggg>gAA	p.G383E	TRAF3IP3_uc001hhm.2_Intron|TRAF3IP3_uc001hhn.3_Missense_Mutation_p.G363E|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.G383E	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	383						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TGCCTGCAAGGGGACAGAGACC	0.520000														48			14		0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60377841	60377841	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:60377841C>T	uc001czq.3	-	2	521	c.516G>A	c.(514-516)gaG>gaA	p.E172E		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	172					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					CACCGTTCTCCTCTTTTATTG	0.458000														31			18		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108776277	108776277	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108776277C>T	uc003dxl.3	-	12	1175	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	MORC1_uc011bhn.2_Missense_Mutation_p.R363Q	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	363					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.R363Q(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGCTTGGCTTCGGTTTTCTAC	0.338000														102			22		0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30418653	30418653	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30418653G>A	uc002wwq.2	+	8	1358	c.1256G>A	c.(1255-1257)gGg>gAg	p.G419E	MYLK2_uc002wws.2_Missense_Mutation_p.G36E|MYLK2_uc010gdw.1_5'Flank	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	419	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)			AACACCACCGGGCATTTGGTG	0.627000														215			83		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212777	62212777	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:62212777G>A	uc003xuh.3	+	1	715	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	CLVS1_uc003xug.2_Missense_Mutation_p.E131K|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	131	CRAL-TRIO.				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						CGGGGTGCTGGAAAACCGAGA	0.463000														36			19		0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36642158	36642158	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36642158G>A	uc002xhl.3	-	2	270	c.61C>T	c.(61-63)Ctc>Ttc	p.L21F	TTI1_uc002xhm.3_Missense_Mutation_p.L21F	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	21							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GTCTTTGTGAGCTGAACACAG	0.507000														161			24		0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456549	5456549	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:5456549C>T	uc002mca.4	+	0	1124	c.1047C>T	c.(1045-1047)ccC>ccT	p.P349P		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	349						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCTCCTGCCCCGTGTGCAAAC	0.642000														119			13		0	0	1	0	0
CLNK	116449	broad.mit.edu	37	4	10669536	10669536	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:10669536C>T	uc003gmo.4	-	2	96	c.-41_splice	c.e2-1			NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.						immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TCAATTCAGCCTGTGGAAACA	0.478000														18			4		0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101060585	101060585	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:101060585G>A	uc003dut.3	-	14	2256	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F	SENP7_uc003duu.3_Silent_p.F650F|SENP7_uc003duv.3_Silent_p.F682F|SENP7_uc003duw.3_Silent_p.F649F|SENP7_uc003dux.3_Silent_p.F551F	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	715					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCTTCTGCAGGAAGGTGTAAG	0.438000														48			18		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149499582	149499582	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149499582G>A	uc003lro.3	-	18	3160	c.2691C>T	c.(2689-2691)ttC>ttT	p.F897F	PDGFRB_uc010jhd.3_Silent_p.F736F	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	897	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TACCCAAGGTGAAGATCTCCC	0.582000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									75			12		0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81319226	81319226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:81319226C>T	uc002fgn.1	+	8	1507	c.1289C>T	c.(1288-1290)cCa>cTa	p.P430L	BCMO1_uc010vnp.1_Missense_Mutation_p.P361L	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	430					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CAGTGGAGTCCAATCCCAACC	0.438000														61			8		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51172764	51172764	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:51172764G>A	uc021tif.1	-	1	3400	c.3078C>T	c.(3076-3078)ctC>ctT	p.L1026L	SALL1_uc021tid.1_Silent_p.L1026L|SALL1_uc021tie.1_Silent_p.L1123L|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1123					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCAGAGCAGGGAGCAGAACTG	0.567000														51			13		0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141334096	141334096	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:141334096G>A	uc011chi.2	-	2	355	c.137C>T	c.(136-138)tCc>tTc	p.S46F	CLGN_uc003iii.3_Missense_Mutation_p.S46F	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	46					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TACCTCTGAGGAAAGTTCACT	0.318000														41			17		0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145584116	145584116	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145584116C>T	uc003zcc.2	+	2	1128	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Missense_Mutation_p.P322S|SLC52A2_uc010mfy.2_Missense_Mutation_p.P322S|SLC52A2_uc011llc.2_Missense_Mutation_p.P234S|SLC52A2_uc003zcd.2_Missense_Mutation_p.P322S	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	322						integral to plasma membrane	receptor activity|riboflavin transporter activity										TGCTGCCAATCCCCTGGCCTG	0.662000														81			47		0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117666496	117666496	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117666496G>A	uc004bji.2	-	3	712	c.420C>T	c.(418-420)ttC>ttT	p.F140F	TNFSF8_uc022bmi.1_Intron	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	140					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GGCAAATGATGAAGTACAAAC	0.413000														101			66		0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134497252	134497253	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:134497252_134497253GG>AA	uc022bos.1	-	10	1997_1998	c.1838_1839CC>TT	c.(1837-1839)tcc>tTT	p.S613F	RAPGEF1_uc022bot.1_Missense_Mutation_p.S595F|RAPGEF1_uc010mzm.3_Non-coding_Transcript|RAPGEF1_uc022bou.1_Missense_Mutation_p.S600F|RAPGEF1_uc022bov.1_Missense_Mutation_p.S600F|RAPGEF1_uc010mzr.1_Missense_Mutation_p.S41F|RAPGEF1_uc010mzq.1_Missense_Mutation_p.S41F|RAPGEF1_uc010mzs.1_Missense_Mutation_p.S41F|RAPGEF1_uc010mzl.1_Missense_Mutation_p.S41F|RAPGEF1_uc010mzo.1_Missense_Mutation_p.S41F|RAPGEF1_uc010mzp.1_Missense_Mutation_p.S41F	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	595					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCCCACTGAAGGAGTCGCTGAA	0.609000														15			6		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18331127	18331127	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18331127G>A	uc010xqc.2	-	6	1191	c.711C>T	c.(709-711)ttC>ttT	p.F237F	PDE4C_uc002nik.4_Silent_p.F237F|PDE4C_uc002nil.4_Silent_p.F237F|PDE4C_uc002nig.4_Silent_p.F7F|PDE4C_uc002nih.4_Silent_p.F7F|PDE4C_uc010ebk.3_Silent_p.F131F|PDE4C_uc002nii.4_Silent_p.F205F|PDE4C_uc002nif.4_Silent_p.F6F|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_Non-coding_Transcript	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	237					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGATCCGCTTGAACTGGGGCG	0.622000														101			39		0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74100324	74100324	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:74100324C>T	uc003kdm.3	-	7	949	c.906G>A	c.(904-906)caG>caA	p.Q302Q	FAM169A_uc010izm.3_Silent_p.Q242Q|FAM169A_uc003kdl.3_Silent_p.Q120Q	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA.	302										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						CTACAGTTAGCTGCATCTCAC	0.323000														79			28		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711257	155711257	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:155711257G>A	uc002tyv.1	+	2	1133	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	313					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TGTCAAGCTCGAACATCATAT	0.358000														80			30		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269485	150269485	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150269485G>A	uc003whl.3	+	2	409	c.327G>A	c.(325-327)ctG>ctA	p.L109L	GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Silent_p.L123L	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	109							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCATTCTTCTGACCTCCCCAG	0.507000														77			21		0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153751848	153751848	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153751848C>T	uc001fcz.3	+	8	1980	c.1915C>T	c.(1915-1917)Cta>Tta	p.L639L	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	639					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AATGGCAGCCCTAGTTCTGCG	0.627000														80			31		0	0	1	0	0
SRP14	6727	broad.mit.edu	37	15	40328545	40328545	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40328545C>T	uc001zkq.2	-	4	472	c.400G>A	c.(400-402)Gca>Aca	p.A134T	SRP14_uc001zkr.2_3'UTR|LOC100131089_uc021sjc.1_5'Flank|LOC100131089_uc021sjd.1_5'Flank|LOC100131089_uc021sje.1_5'Flank|LOC100131089_uc001zks.2_5'Flank	NM_003134	NP_003125	P37108	SRP14_HUMAN	Homo sapiens signal recognition particle 14kDa (homologous Alu RNA binding protein) (SRP14), mRNA.	134	Ala/Thr-rich.				SRP-dependent cotranslational protein targeting to membrane|negative regulation of translational elongation|response to drug	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		TACTGtgctgctgttgctgct	0.488000														67			18		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50213610	50213610	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50213610G>A	uc010eng.3	+	14	1916	c.1600G>A	c.(1600-1602)Gcc>Acc	p.A534T	CPT1C_uc002ppl.4_Missense_Mutation_p.A500T|CPT1C_uc002ppi.3_Missense_Mutation_p.A451T|CPT1C_uc002ppk.3_Missense_Mutation_p.A523T|CPT1C_uc010enh.3_Missense_Mutation_p.A534T|CPT1C_uc002ppj.3_Missense_Mutation_p.A534T|CPT1C_uc010ybc.1_Missense_Mutation_p.A405T|CPT1C_uc010eni.1_Missense_Mutation_p.A191T	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	534					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCTGAGGGGAGCCAAGATCTT	0.527000														115			10		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896748	175896749	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:175896748_175896749CC>TT	uc003iuc.3	+	4	742_743	c.72_73CC>TT	c.(70-75)cacccc>caTTcc	p.P25S	ADAM29_uc003iud.3_Missense_Mutation_p.P25S|ADAM29_uc010irr.3_Missense_Mutation_p.P25S|ADAM29_uc011cki.2_Missense_Mutation_p.P25S|ADAM29_uc021xuo.1_Missense_Mutation_p.P25S	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	25					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGGATGAGCACCCCCAATATCA	0.510000														56			19		0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095669	145095669	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145095669C>T	uc011lkw.2	+	2	1069	c.967C>T	c.(967-969)Ccc>Tcc	p.P323S	SPATC1_uc011lkx.2_Missense_Mutation_p.P323S	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	323										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			tgcatctgtccccacctcccc	0.662000														18			6		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105152872	105152872	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:105152872C>T	uc004emd.3	+	12	1542	c.1239C>T	c.(1237-1239)gcC>gcT	p.A413A	NRK_uc010npc.1_Silent_p.A81A	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	413	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGGGAGCAGCCAGGGTATTCA	0.587000										HNSCC(51;0.14)				14			16		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37725431	37725431	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:37725431C>T	uc003chd.3	+	17	2045	c.1992C>T	c.(1990-1992)ctC>ctT	p.L664L		NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	664					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TCTCCAACCTCGGAGATGATG	0.458000														31			20		0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	45079881	45079881	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:45079881T>C	uc001clv.1	+	2	1030	c.670T>C	c.(670-672)Tgc>Cgc	p.C224R	RNF220_uc001clw.1_Missense_Mutation_p.C224R|RNF220_uc010okx.1_5'UTR|RNF220_uc010oky.1_5'UTR	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	224					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GGCCCCAATTTGCCCCATCTG	0.587000														94			33		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75978949	75978949	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:75978949G>A	uc003kek.3	+	28	3892	c.3670G>A	c.(3670-3672)Gaa>Aaa	p.E1224K	IQGAP2_uc011csv.2_Missense_Mutation_p.E720K|IQGAP2_uc003kel.3_Missense_Mutation_p.E720K|IQGAP2_uc010izw.1_5'UTR	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1224					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GCTCCTGTTGGAACACCAGGA	0.398000														70			27		0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7647019	7647019	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7647019C>T	uc001mfj.4	+	7	1111	c.723C>T	c.(721-723)gcC>gcT	p.A241A	PPFIBP2_uc010rbb.1_Silent_p.A164A|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Silent_p.A164A|PPFIBP2_uc010rbd.1_Silent_p.A83A|PPFIBP2_uc010rbe.2_Silent_p.A129A|PPFIBP2_uc001mfl.4_Silent_p.A98A	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	241					DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CTGAAGTCGCCCAGCTGCAAG	0.562000														48			20		0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342314	60342314	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:60342314G>A	uc010woz.2	-	13		c.1815C>T								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						ACGAGGAGGCGAAGCTTGCTT	0.468000														98			42		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39066565	39066565	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39066565C>T	uc002oit.3	+	96	14266	c.14136C>T	c.(14134-14136)ttC>ttT	p.F4712F	RYR1_uc002oiu.3_Silent_p.F4707F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4712					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAGGTCTTTCCCTAGCAACT	0.557000														70			28		0	0	1	0	0
EFHA2	286097	broad.mit.edu	37	8	16921710	16921710	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:16921710G>A	uc003wxd.2	+	1	541	c.499G>A	c.(499-501)Gat>Aat	p.D167N		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	Homo sapiens EF-hand domain family, member A2 (EFHA2), mRNA.	167						integral to membrane	calcium ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(4)	23				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		GACTCCGTATGATTTTATTTT	0.348000														91			16		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21035984	21035984	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21035984C>T	uc010vbe.2	-	38	5580	c.5580G>A	c.(5578-5580)tgG>tgA	p.W1860*		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1860	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAGGGGCTTCCAGCCTAGTT	0.532000														47			4		0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84256408	84256408	+	Silent	SNP	C	T	T	rs113623603		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84256408C>T	uc010voc.2	-	2	1096	c.975G>A	c.(973-975)ggG>ggA	p.G325G		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	325			G -> R (in dbSNP:rs7196482).			voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GGTAGGAGCTCCCGCTCGGCC	0.672000														16			4		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20482500	20482500	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20482500C>T	uc010bwe.3	+	5	941	c.702C>T	c.(700-702)tcC>tcT	p.S234S	ACSM2A_uc010bwd.1_Intron|ACSM2A_uc010vax.1_Silent_p.S155S|ACSM2A_uc002dhf.4_Silent_p.S234S|ACSM2A_uc002dhg.4_Silent_p.S234S|ACSM2A_uc010vay.2_Silent_p.S155S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	234					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CAGAACATTCCTACTCGAGCC	0.498000														79			15		0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79165002	79165002	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:79165002G>A	uc002jzp.1	-	21	2965	c.2765C>T	c.(2764-2766)gCc>gTc	p.A922V	AZI1_uc002jzm.1_Missense_Mutation_p.A354V|AZI1_uc002jzn.1_Missense_Mutation_p.A919V|AZI1_uc002jzo.1_Missense_Mutation_p.A883V|AZI1_uc010wum.1_Missense_Mutation_p.A886V|AZI1_uc002jzq.3_Missense_Mutation_p.A70V	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	922					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCGGCTCTCGGCAGCCTTCTC	0.647000														77			36		0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56922570	56922570	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:56922570G>A	uc003xsk.4	+	12	1722	c.1440G>A	c.(1438-1440)tgG>tgA	p.W480*	LYN_uc003xsl.4_Nonsense_Mutation_p.W459*	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	480	Protein kinase.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			AAATGTGCTGGAAAGAAAAGG	0.512000														86			11		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531962	42531962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:42531962C>T	uc010dni.3	+	3	2953	c.2657C>T	c.(2656-2658)tCa>tTa	p.S886L		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	886						nucleus	DNA binding	p.K885M(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAGAAGAGCTCAGAATCCCGA	0.582000									Schinzel-Giedion syndrome					33			7		0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56934979	56934979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56934979C>T	uc010ygl.1	+	4	1117	c.952C>T	c.(952-954)Cat>Tat	p.H318Y	ZNF583_uc002qnc.2_Missense_Mutation_p.H318Y|ZNF583_uc010ygm.1_Missense_Mutation_p.H318Y	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TCAGAGAGTTCATACTGGAGA	0.413000														133			18		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424037	125424037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125424037C>T	uc022bmz.1	+	0	43	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						ATTCATCCTCCTTGGACTCTC	0.448000														69			25		0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102668758	102668758	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102668758C>T	uc001phi.2	-	0	209	c.66G>A	c.(64-66)gcG>gcA	p.A22A	LOC100288077_uc001phh.1_Non-coding_Transcript|MMP1_uc010ruv.1_Intron	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	22					blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TTTCTAGAGTCGCTGGGAAGC	0.443000														27			16		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901844	51901844	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:51901844G>A	uc002iua.2	+	0	1606	c.1450G>A	c.(1450-1452)Gct>Act	p.A484T	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	484					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATGTATTCTGGCTTTGGGTCA	0.507000														37			8		0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35477696	35477696	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:35477696C>T	uc003okv.4	-	5	521	c.509G>A	c.(508-510)gGa>gAa	p.G170E	TULP1_uc003okw.4_Missense_Mutation_p.G117E|TULP1_uc021yyx.1_Missense_Mutation_p.G170E|TULP1_uc021yyy.1_Missense_Mutation_p.G170E	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	170					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GTCAGGGCTTCCCAGGTCTCC	0.567000														106			39		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169812155	169812155	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169812155G>A	uc011cjx.2	+	10	2258	c.2047G>A	c.(2047-2049)Gac>Aac	p.D683N	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Missense_Mutation_p.D683N|PALLD_uc003irv.3_Missense_Mutation_p.D301N|PALLD_uc003irw.3_Missense_Mutation_p.D196N	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	907	Interaction with ARGBP2, SPIN90 and SRC.|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGTTATTCAAGACCTGGAACG	0.463000									Pancreatic Cancer, Familial Clustering of					58			27		0	0	1	0	0
TRAF3	7187	broad.mit.edu	37	14	103371731	103371731	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:103371731C>T	uc001ymc.2	+	11	1670	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	TRAF3_uc001ymd.2_Silent_p.S439S|TRAF3_uc001yme.2_Silent_p.S414S|TRAF3_uc010txy.2_Silent_p.S356S	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	Homo sapiens TNF receptor-associated factor 3 (TRAF3), transcript variant 1, mRNA.	439	MATH.				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGACCCTGTCCCTTTACAGCC	0.577000														58			35		0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101390172	101390172	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:101390172G>A	uc003dve.4	-	2	810	c.580C>T	c.(580-582)Cca>Tca	p.P194S	ZBTB11_uc003dvf.2_3'UTR	NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CAATGTTTTGGAGAAGAACGT	0.368000														151			50		0	0	1	0	0
BNIPL	149428	broad.mit.edu	37	1	151015480	151015480	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151015480G>A	uc001ewl.2	+	4	655	c.482G>A	c.(481-483)aGg>aAg	p.R161K	BNIPL_uc009wmi.2_Missense_Mutation_p.R79K|BNIPL_uc009wmj.2_Non-coding_Transcript	NM_138278	NP_001153114	Q7Z465	BNIPL_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kD interacting protein like (BNIPL), transcript variant 1, mRNA.	161					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	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)			ACAGCTGAAAGGCTGGGCCGA	0.552000														105			55		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255182	140255182	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140255182G>A	uc003lic.2	+	0	252	c.125G>A	c.(124-126)gGc>gAc	p.G42D	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.G42D	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	55					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)			GCCAAACACGGCACCTTCGTG	0.677000														95			29		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55719575	55719575	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:55719575C>T	uc010qhy.1	-	23	3449	c.3054G>A	c.(3052-3054)gaG>gaA	p.E1018E	PCDH15_uc010qhq.2_Silent_p.E1018E|PCDH15_uc010qhr.2_Silent_p.E1013E|PCDH15_uc021pqv.1_Silent_p.E1013E|PCDH15_uc021pqw.1_Silent_p.E1025E|PCDH15_uc010qht.2_Silent_p.E1020E|PCDH15_uc021pqx.1_Silent_p.E1013E|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.E1013E|PCDH15_uc021pqz.1_Silent_p.E991E|PCDH15_uc010qhv.1_Silent_p.E1013E|PCDH15_uc010qhw.1_Silent_p.E976E|PCDH15_uc010qhx.1_Silent_p.E942E|PCDH15_uc010qhz.1_Silent_p.E1013E|PCDH15_uc010qia.1_Silent_p.E991E|PCDH15_uc001jju.1_Silent_p.E1013E|PCDH15_uc010qib.1_Silent_p.E991E	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1013	Cadherin 9.				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)				ACATCACAGGCTCCCCATCAT	0.398000										HNSCC(58;0.16)				55			24		0	0	1	0	0
MARCH8	220972	broad.mit.edu	37	10	45953750	45953750	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:45953750G>A	uc001jci.1	-	6	1052	c.813C>T	c.(811-813)tcC>tcT	p.S271S	MARCH8_uc001jch.2_Silent_p.S553S|MARCH8_uc001jcj.1_Silent_p.S271S|MARCH8_uc001jck.1_Silent_p.S271S|DL492557_uc001jcf.3_5'Flank|MARCH8_uc001jcg.1_Silent_p.S140S	NM_001002266	NP_659458	Q5T0T0	MARH8_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 8 (MARCH8), transcript variant 7, mRNA.	271						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						AGTTTGTGTCGGAATGACAGA	0.393000														98			10		0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9324872	9324872	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9324872G>A	uc002mla.2	-	0	676	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G213E(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGGAGAAGAGGATCCCAGCTA	0.527000														76			25		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161007493	161007493	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:161007493G>A	uc003qtl.3	-	25	4237	c.4117C>T	c.(4117-4119)Cct>Tct	p.P1373S		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3881	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCTTCAGAAGGAAGCTCTGTG	0.478000														45			36		0	0	1	0	0
POU5F1P4	645682	broad.mit.edu	37	1	155403337	155403337	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155403337G>A	uc010pgc.1	-	0		c.137C>T			ASH1L_uc001fkt.3_Intron|ASH1L_uc009wqq.3_Intron|POU5F1P4_uc010pgd.2_Silent_p.V115V					Homo sapiens partial mRNA for POU class 5 homeobox 1 pseudogene 4, clone BM-TAKA-09_AS.																		CTGGTGCCGTGAAACTGGAGA	0.582000														17			4		0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203915	5203915	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:5203915C>T	uc009xhz.2	-	2		c.365G>A								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CCAATTCTGCCCGAAAGAAAG	0.393000														26			10		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182347137	182347137	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:182347137G>A	uc002unu.3	+	7	1654	c.891G>A	c.(889-891)atG>atA	p.M297I	ITGA4_uc010zfl.1_Missense_Mutation_p.M297I	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	297					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TACATGAAATGAAAGGTAAAA	0.313000														74			26		0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66082657	66082657	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66082657G>A	uc001ohm.1	-	0	1859	c.1842C>T	c.(1840-1842)ccC>ccT	p.P614P		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	614	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GGAGGGCTGCGGGCTGGGTGG	0.622000														67			45		0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10569274	10569274	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10569274G>A	uc001qyi.1	-	4	624	c.579C>T	c.(577-579)ttC>ttT	p.F193F	KLRC2_uc001qyf.3_Silent_p.F193F|KLRC2_uc021qvc.1_Silent_p.F193F|KLRC2_uc001qyh.3_Silent_p.F193F|KLRC2_uc021qvd.1_Silent_p.F193F	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	192	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ACTCATGTTTGAAAGCCAAAC	0.318000														77			16		0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34241738	34241738	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34241738G>A	uc021wcr.1	-	0	1507	c.1507C>T	c.(1507-1509)Cat>Tat	p.H503Y	CPNE1_uc010zvj.2_5'UTR|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.H503Y|RBM12_uc002xds.3_Missense_Mutation_p.H503Y|RBM12_uc002xdr.3_Missense_Mutation_p.H503Y|RBM12_uc021wcq.1_Missense_Mutation_p.H503Y	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	503	RRM 2.					nucleus	RNA binding|nucleotide binding|protein binding	p.H503N(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GTAATTGGATGAACTTGAATA	0.398000														180			60		0	0	1	0	0
SOLH	6650	broad.mit.edu	37	16	601380	601380	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:601380C>T	uc002chi.3	+	7	2508	c.2145C>T	c.(2143-2145)ccC>ccT	p.P715P	SOLH_uc002chj.3_5'Flank	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	715	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				GCCTGCGCCCCCGGCATGCCT	0.677000														41			20		0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123600430	123600430	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123600430G>A	uc001pzd.1	-	4	906	c.506C>T	c.(505-507)tCg>tTg	p.S169L	ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.S169L|ZNF202_uc001pzf.1_Missense_Mutation_p.S169L	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	169					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CTCGGGGGTCGAGCTTTGCAC	0.597000														36			7		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31876800	31876800	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:31876800G>A	uc003tcm.2	-	10	1658	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	PDE1C_uc003tcn.1_Silent_p.F399F|PDE1C_uc003tco.2_Silent_p.F459F|PDE1C_uc003tcr.3_Silent_p.F399F|PDE1C_uc003tcs.3_Silent_p.F399F	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	399	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GTACCTGTCTGAAGAACTCCT	0.428000														68			32		0	0	1	0	0
PAEP	5047	broad.mit.edu	37	9	138454150	138454150	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:138454150C>T	uc004cge.1	+	1	151	c.107C>T	c.(106-108)aCc>aTc	p.T36I	PAEP_uc010naw.1_Intron|PAEP_uc010nay.3_Missense_Mutation_p.T36I|PAEP_uc010naz.3_Non-coding_Transcript|PAEP_uc010nba.1_Missense_Mutation_p.T36I|PAEP_uc004cgd.1_Missense_Mutation_p.T36I|PAEP_uc011mdp.1_Intron|PAEP_uc004cgg.1_Missense_Mutation_p.T36I|PAEP_uc004cgf.1_Missense_Mutation_p.T36I	NM_001018049	NP_002562	P09466	PAEP_HUMAN	Homo sapiens progestagen-associated endometrial protein (PAEP), transcript variant 1, mRNA.	36				GTW -> VTA (in Ref. 9; AA sequence).|T -> K (in Ref. 7; AA sequence).	multicellular organismal development	extracellular region	binding|transporter activity	p.G35E(1)		cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		TTGGCAGGGACCTGGCACTCC	0.652000														39			5		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25341421	25341421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25341421G>A	uc001upr.3	+	1	183	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	RNF17_uc010tdd.1_5'UTR|RNF17_uc010tde.2_Missense_Mutation_p.E48K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_5'UTR|RNF17_uc001upq.1_Missense_Mutation_p.E48K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	48					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)		TCACCATTGTGAACTTCAATG	0.358000														72			23		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124377772	124377772	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124377772G>A	uc001lgk.1	+	37	4850	c.4744G>A	c.(4744-4746)Gag>Aag	p.E1582K	DMBT1_uc001lgl.1_Missense_Mutation_p.E1572K|DMBT1_uc001lgm.1_Missense_Mutation_p.E954K|DMBT1_uc021qaf.1_Missense_Mutation_p.E1582K|DMBT1_uc021qag.1_Missense_Mutation_p.E1572K|DMBT1_uc021qah.1_Missense_Mutation_p.E954K|DMBT1_uc009xzz.1_Missense_Mutation_p.E1582K|DMBT1_uc010qtx.1_Missense_Mutation_p.E433K|DMBT1_uc009yab.1_Missense_Mutation_p.E285K|DMBT1_uc009yac.1_5'Flank	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1582	SRCR 12.				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.H1581Q(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)				CTCAGGACACGAGTCTTACCT	0.597000														159			59		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50946288	50946288	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50946288C>T	uc009xog.3	-	16	2455	c.2421G>A	c.(2419-2421)gcG>gcA	p.A807A	OGDHL_uc001jie.3_Silent_p.A780A|OGDHL_uc010qgt.2_Silent_p.A723A|OGDHL_uc010qgu.2_Silent_p.A571A	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	780					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.A780A(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTTCGGGCCTCGCTGACGAGT	0.617000														42			13		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208940	140208940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140208940G>A	uc003lho.2	+	0	1291	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.E422K|PCDHAC2_uc011dab.2_Missense_Mutation_p.E422K	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	436	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)			GTCGGCCTATGAGTTGGTGGT	0.617000														214			73		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402436	89402436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89402436C>T	uc010upo.1	+	11	6994	c.6620C>T	c.(6619-6621)tCg>tTg	p.S2207L	ACAN_uc010upp.1_Missense_Mutation_p.S2207L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2207					cell adhesion		hyaluronic acid binding|sugar binding	p.E2207K(1)		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)			GGTCACACCTCGCAGCTGGGC	0.592000														51			40		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420360	55420360	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55420360G>A	uc001sgp.4	+	1	515	c.137G>A	c.(136-138)aGc>aAc	p.S46N	NEUROD4_uc021qyr.1_Missense_Mutation_p.S46N	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	46					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						ATGCTCAGCAGCTTAACTGAA	0.468000														43			18		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897906	175897906	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:175897906G>A	uc003iuc.3	+	4	1900	c.1230G>A	c.(1228-1230)gaG>gaA	p.E410E	ADAM29_uc003iud.3_Silent_p.E410E|ADAM29_uc010irr.3_Silent_p.E410E|ADAM29_uc011cki.2_Silent_p.E410E|ADAM29_uc021xuo.1_Silent_p.E410E	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	410	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAGGAGAAGAGTGTGACTGTG	0.428000														107			32		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772291	4772291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:4772291C>T	uc001alm.1	+	1	742	c.361C>T	c.(361-363)Cca>Tca	p.P121S	AJAP1_uc001aln.3_Missense_Mutation_p.P121S	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	121					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GGCCAAGCCCCCAGCTGCTGC	0.726000														9			5		0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3212029	3212029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3212029G>A	uc010zqe.2	-	7	1149	c.1024C>T	c.(1024-1026)Ccg>Tcg	p.P342S	SLC4A11_uc002wig.3_Missense_Mutation_p.P315S|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.P299S	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	315					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TTCGTTCTCGGCGCCACTGGA	0.662000														53			25		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579081	44579081	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44579081G>A	uc003tlb.3	-	1	971	c.915C>T	c.(913-915)ttC>ttT	p.F305F	NPC1L1_uc011kbw.2_Silent_p.F305F|NPC1L1_uc003tlc.3_Silent_p.F305F|NPC1L1_uc003tld.3_Silent_p.F305F	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	305					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)	GGGCCACACGGAATCCCACAA	0.602000														74			39		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306010	54306010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54306010G>A	uc021smr.1	+	0	910	c.910G>A	c.(910-912)Gac>Aac	p.D304N	UNC13C_uc021sms.1_Missense_Mutation_p.D304N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	304					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)		GGAAACTAGAGACATCCATGA	0.428000														141			42		0	0	1	0	0
MOS	4342	broad.mit.edu	37	8	57026495	57026495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:57026495G>A	uc011leb.2	-	0	47	c.47C>T	c.(46-48)tCc>tTc	p.S16F		NM_005372	NP_005363	P00540	MOS_HUMAN	Homo sapiens v-mos Moloney murine sarcoma viral oncogene homolog (MOS), mRNA.	16							ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CACCGATGGGGAAAACTCGCT	0.692000														31			11		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6649939	6649939	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6649939C>T	uc001mem.1	-	12	5685	c.5284G>A	c.(5284-5286)Gag>Aag	p.E1762K		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1762	Cadherin 17.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGCCCTCAGGCACCTCC	0.572000														93			7		0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128595285	128595285	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:128595285C>T	uc003ifk.2	+	5	1201	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	366										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TTAGTTCATCCCTCCTTTTAA	0.303000														46			11		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107218706	107218706	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:107218706G>A	uc021ser.1	-	12		c.1057C>T								Parts of antibodies, mostly variable regions.																		CCGTGTCCTCGGCTCTCAGAC	0.552000														295			129		0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35033608	35033608	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35033608C>T	uc003jjf.3	-	5	875	c.632G>A	c.(631-633)gGg>gAg	p.G211E	AGXT2_uc011com.2_Missense_Mutation_p.G211E|AGXT2_uc011con.2_Missense_Mutation_p.G119E|Mir_548_uc021xxj.1_5'Flank	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	211					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CTTGTAGGTCCCTACGTTTGT	0.483000														56			18		0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	420556	420556	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:420556C>T	uc003zgf.2	+	30	4108	c.3996C>T	c.(3994-3996)ttC>ttT	p.F1332F	DOCK8_uc022bcu.1_Silent_p.F1264F|DOCK8_uc010mgv.3_Silent_p.F1232F|DOCK8_uc010mgu.3_Silent_p.F634F|DOCK8_uc003zgk.2_Silent_p.F790F	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1332	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.K1331K(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATCTACTTTTCATCTGTGTGT	0.418000														76			42		0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2546846	2546846	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2546846C>T	uc002cql.3	+	1	837	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	TBC1D24_uc002cqk.3_Silent_p.L233L|TBC1D24_uc002cqm.3_Silent_p.L233L|TBC1D24_uc010bsm.3_5'Flank	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	233	Rab-GAP TBC.				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TGACGTCTTCCTGGTGGAGGG	0.642000														51			12		0	0	1	0	0
CDK19	23097	broad.mit.edu	37	6	110942510	110942510	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:110942510G>A	uc003puh.1	-	11	1247	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S	CDK19_uc003pui.1_Missense_Mutation_p.P332S|CDK19_uc011eax.1_Missense_Mutation_p.P268S	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	392	Gln-rich.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GCCTGTGGAGGGGCTGCTGCC	0.632000														84			61		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103155868	103155868	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:103155868G>A	uc022ajr.1	-	49	8043	c.7883C>T	c.(7882-7884)cCt>cTt	p.P2628L	RELN_uc022ajq.1_Missense_Mutation_p.P2628L|RELN_uc010liz.3_Missense_Mutation_p.P2628L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2628					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)		AGCATCAGGAGGGAGAAGGAT	0.478000														36			15		0	0	1	0	0
PPP1R17	10842	broad.mit.edu	37	7	31735138	31735138	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:31735138G>A	uc003tcl.3	+	2	464	c.138G>A	c.(136-138)aaG>aaA	p.K46K	PPP1R17_uc011kaf.2_Intron	NM_006658	NP_006649	O96001	GSUB_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 17 (PPP1R17), transcript variant 1, mRNA.	46					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											AGCCTAGAAAGGGAAAAAATG	0.388000														98			31		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65220510	65220510	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:65220510C>T	uc001xhr.3	-	32	6397	c.6346_splice	c.e32-1	p.G2116_splice	SPTB_uc001xhs.3_Splice_Site_p.G2116_splice|SPTB_uc010aqi.3_Splice_Site_p.G777_splice	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 1, mRNA.	0					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCTTCTTCCCCCTGCTCAGG	0.597000														63			20		0	0	1	0	0
SDR9C7	121214	broad.mit.edu	37	12	57324024	57324024	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57324024G>A	uc010sqw.2	-	1	690	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7), mRNA.	182						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TGCTGTCAGAGAAGGCCTCAA	0.552000														101			37		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117310547	117310547	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:117310547C>T	uc001prh.1	-	21	4150	c.4148G>A	c.(4147-4149)tGg>tAg	p.W1383*		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1323	Fibronectin type-III 5.				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)		GTCCTTGGTCCACTTCACAGC	0.567000														186			45		0	0	1	0	0
SH2D1B	117157	broad.mit.edu	37	1	162368759	162368760	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:162368759_162368760GG>AA	uc001gbz.1	-	2	438_439	c.316_317CC>TT	c.(316-318)ccc>TTc	p.P106F	SH2D1B_uc001gca.1_Intron	NM_053282	NP_444512	O14796	SH21B_HUMAN	Homo sapiens SH2 domain containing 1B (SH2D1B), mRNA.	106								p.S105N(1)		kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCTCAAGCTGGGGCTGGTTCTC	0.406000														73			34		0	0	1	0	0
TMEM156	80008	broad.mit.edu	37	4	39000465	39000465	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:39000465G>A	uc003gto.3	-	1	261	c.153C>T	c.(151-153)tcC>tcT	p.S51S	TMEM156_uc010ifj.3_Silent_p.S51S	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	51						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AATTTAAGGAGGAGAGTGAAT	0.333000														36			19		0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133670172	133670172	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:133670172G>A	uc003eqa.4	-	5	1015	c.741C>T	c.(739-741)gtC>gtT	p.V247V	SLCO2A1_uc011blv.2_Intron|SLCO2A1_uc010htw.1_Silent_p.V79V	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	247					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GGTCACCCGGGACCAAGTTAA	0.483000														62			29		0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35473605	35473605	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:35473605C>T	uc003okv.4	-	10	1037	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	TULP1_uc003okw.4_Missense_Mutation_p.R289Q|TULP1_uc021yyx.1_Missense_Mutation_p.R342Q|TULP1_uc021yyy.1_Missense_Mutation_p.R341Q	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	342					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTCCGTTTTCGTTTCCTGCC	0.567000														52			27		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77471795	77471795	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:77471795G>A	uc021sqy.1	-	4	3050	c.2474C>T	c.(2473-2475)cCt>cTt	p.P825L	PEAK1_uc002bcn.2_Missense_Mutation_p.P825L|PEAK1_uc021sqz.1_Missense_Mutation_p.P223L	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	825	Pro-rich.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										CTCACCACTAGGCTGAGATGT	0.502000														129			36		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2436207	2436207	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:2436207G>A	uc010qxl.2	-	9	1559	c.1550C>T	c.(1549-1551)cCc>cTc	p.P517L	TRPM5_uc001lwm.4_Missense_Mutation_p.P517L|TRPM5_uc009ydn.3_Missense_Mutation_p.P519L	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	517						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTCCCGCCAGGGGTTCTCGCT	0.706000														21			7		0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70543268	70543268	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:70543268G>A	uc002ezc.3	-	6	879	c.868C>T	c.(868-870)Cac>Tac	p.H290Y	COG4_uc002ezd.3_Missense_Mutation_p.H290Y|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	286					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	p.T289T(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				ATTGGCTGGTGGGTCTCCACA	0.473000														60			18		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15383628	15383628	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15383628G>A	uc002nar.3	-	1	505	c.283C>T	c.(283-285)Cct>Tct	p.P95S	BRD4_uc002nas.3_Missense_Mutation_p.P95S|BRD4_uc002nat.3_Missense_Mutation_p.P95S|BRD4_uc002nau.4_Missense_Mutation_p.P95S	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	95	Bromo 1.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTACTCACAGGGAGGTTCAGC	0.592000			T	C15orf55	lethal midline carcinoma of young people									24			6		0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205896725	205896725	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205896725G>A	uc001hdp.3	-	9	1224	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	SLC26A9_uc001hdo.3_Silent_p.I38I|SLC26A9_uc001hdq.3_Silent_p.I370I	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	370						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)			AGCCGAGAGCGATCATCTCCT	0.552000														30			10		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7645572	7645572	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:7645572G>A	uc002cys.2	+	7	1478	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	RBFOX1_uc010buf.1_Missense_Mutation_p.E164K|RBFOX1_uc002cyr.1_Missense_Mutation_p.E163K|RBFOX1_uc002cyt.2_Missense_Mutation_p.E164K|RBFOX1_uc010uxz.1_Missense_Mutation_p.E207K|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Missense_Mutation_p.E164K|RBFOX1_uc010uyb.1_Missense_Mutation_p.E164K|RBFOX1_uc002cyw.2_Missense_Mutation_p.E184K|RBFOX1_uc002cyy.2_Missense_Mutation_p.E184K|RBFOX1_uc002cyx.2_Missense_Mutation_p.E184K|RBFOX1_uc010uyc.1_Missense_Mutation_p.E184K	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	164	RRM.				RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGTAACTTTCGAAAATAGTGC	0.453000														91			41		0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	705079	705079	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:705079C>T	uc002cii.1	+	13	1542	c.1488C>T	c.(1486-1488)gtC>gtT	p.V496V	WDR90_uc002cig.1_Silent_p.V496V|WDR90_uc002cih.1_Silent_p.V497V|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_5'UTR|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	496										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCGAGGTGGTCGTTCTGGCAA	0.652000														70			13		0	0	1	0	0
OR56A5	390084	broad.mit.edu	37	11	5989080	5989080	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5989080G>A	uc010qzu.2	-	0	645	c.645C>T	c.(643-645)atC>atT	p.I215I		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	215						integral to membrane|plasma membrane	olfactory receptor activity										GAACAATAAGGATGAGGTCAG	0.433000														7			4		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21901519	21901519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:21901519G>A	uc003svc.3	+	69	11303	c.11272G>A	c.(11272-11274)Gaa>Aaa	p.E3758K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3758					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGACAAGGTGGAAGACATGCA	0.502000									Kartagener syndrome					74			16		0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54416286	54416286	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:54416286C>T	uc003jpo.2	-	9	1485	c.1308G>A	c.(1306-1308)ggG>ggA	p.G436G	CDC20B_uc003jpn.2_Silent_p.G436G|CDC20B_uc010ivu.2_Intron	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	436										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GGATGCTCTTCCCAGCATTTA	0.453000														109			49		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64607671	64607671	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64607671G>A	uc001obs.4	-	4	502	c.502C>T	c.(502-504)Ccg>Tcg	p.P168S		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	168	Protein kinase.		P -> L (in dbSNP:rs34454471).		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						AGCTCGGGCGGGAGACGGTCC	0.642000														38			15		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352575	168352575	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:168352575C>T	uc021zik.1	+	28	4716	c.4397C>T	c.(4396-4398)tCg>tTg	p.S1466L	MLLT4_uc003qwb.1_Missense_Mutation_p.S1491L|MLLT4_uc003qwc.2_Missense_Mutation_p.S1507L|MLLT4_uc021zij.1_Missense_Mutation_p.S1490L|MLLT4_uc021zim.1_Missense_Mutation_p.S1053L|MLLT4_uc003qwg.1_Missense_Mutation_p.S816L	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1507					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GAGCTTTCCTCGGGGGACAGT	0.592000			T	MLL	AL									35			16		0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94394620	94394620	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94394620G>A	uc001ybz.2	+	2	500	c.175G>A	c.(175-177)Ggc>Agc	p.G59S	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_5'UTR|FAM181A_uc021saz.1_5'UTR|FAM181A_uc010aus.2_5'UTR|FAM181A_uc001yca.2_5'UTR	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	59										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CTCGTGCAGTGGCCCCCTGGT	0.607000														56			26		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33941323	33941323	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:33941323C>T	uc001zhi.3	+	30	4099	c.4029C>T	c.(4027-4029)gtC>gtT	p.V1343V	RYR3_uc010bar.3_Silent_p.V1343V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1343	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATCCTGTGTCTGGGTCGGAT	0.542000														121			47		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160106098	160106098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160106098G>A	uc001fvc.3	+	17	2633	c.2501G>A	c.(2500-2502)cGa>cAa	p.R834Q	ATP1A2_uc001fvb.2_Missense_Mutation_p.R834Q|ATP1A2_uc001fvd.3_Missense_Mutation_p.R570Q	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	834					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGGCAGCCACGAAACTCCCAG	0.597000														70			37		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33030907	33030907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:33030907C>T	uc001rlj.4	-	2	1022	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	PKP2_uc001rlk.4_Missense_Mutation_p.E303K|PKP2_uc010skj.2_Missense_Mutation_p.E303K	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	303					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGCCCAGCTTCCCTCAGCGTG	0.667000														53			5		0	0	1	0	0
SHQ1	55164	broad.mit.edu	37	3	72842128	72842128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:72842128G>A	uc003dpf.3	-	9	1227	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S	SHQ1_uc010hod.3_Missense_Mutation_p.P285S	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	Homo sapiens SHQ1 homolog (S. cerevisiae) (SHQ1), mRNA.	374					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		ATGTACGCTGGGTCATTTTCC	0.308000														89			9		0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8862729	8862729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:8862729C>T	uc002czc.4	+	10	881	c.715C>T	c.(715-717)Cct>Tct	p.P239S	ABAT_uc002czd.4_Missense_Mutation_p.P239S|ABAT_uc010buh.3_Missense_Mutation_p.P181S|ABAT_uc010bui.3_Missense_Mutation_p.P239S	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	239					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GATCGACATCCCTTCCTTTGA	0.527000														300			32		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12353605	12353605	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12353605C>T	uc001atv.3	+	23	6018	c.5877C>T	c.(5875-5877)ctC>ctT	p.L1959L	VPS13D_uc001atw.3_Silent_p.L1959L|VPS13D_uc001atx.3_Silent_p.L1147L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1959					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACCCTCTGCTCCGGAGAGAAC	0.483000														53			10		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173552675	173552676	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:173552675_173552676CC>TT	uc001giz.2	-	5	1032_1033	c.609_610GG>AA	c.(607-612)cggggc>cgAAgc	p.G204S	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	204					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATTCTGTTGCCCCGAAAATTTC	0.277000														81			28		0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145770733	145770733	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145770733G>A	uc003zds.1	-	6	2976	c.2421C>T	c.(2419-2421)ctC>ctT	p.L807L	ARHGAP39_uc011llk.1_Silent_p.L807L|ARHGAP39_uc003zdt.1_Silent_p.L807L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	807	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						AGATGGCCATGAGCTCCCAGC	0.637000														45			9		0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179076997	179076997	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179076997G>A	uc001gmj.4	-	11	3692	c.3405C>T	c.(3403-3405)gcC>gcT	p.A1135A	ABL2_uc010pnf.2_Silent_p.A1032A|ABL2_uc010png.2_Silent_p.A1011A|ABL2_uc010pnh.2_Silent_p.A1114A|ABL2_uc001gmg.4_Silent_p.A1017A|ABL2_uc001gmi.4_Silent_p.A1120A|ABL2_uc010pne.2_Silent_p.A996A	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	1135	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCTCTCGGAAGGCAAATTTGT	0.537000			T	ETV6	AML									44			29		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101759873	101759873	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:101759873G>A	uc001vox.1	-	21	2733	c.2544C>T	c.(2542-2544)aaC>aaT	p.N848N		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	848						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCCGGCAAAAGTTTCTGAACC	0.502000														93			18		0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123484269	123484269	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123484269C>T	uc001pyw.2	+	15	2051	c.1722C>T	c.(1720-1722)ccC>ccT	p.P574P	GRAMD1B_uc001pyx.2_Silent_p.P567P|GRAMD1B_uc010rzw.2_Silent_p.P527P|GRAMD1B_uc010rzx.1_Silent_p.P527P|GRAMD1B_uc001pyy.2_Silent_p.P258P	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	567						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GGAAGCGTCCCCATGCCCACC	0.577000														33			16		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142572875	142572875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142572875C>T	uc003wbx.2	-	8	1394	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	TRPV6_uc003wbw.1_Missense_Mutation_p.E175K|TRPV6_uc010lou.1_Missense_Mutation_p.E260K	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	389					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTCACCAGCTCCCCGACCAGC	0.562000														99			19		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31918627	31918627	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:31918627G>A	uc003tcm.2	-	3	868	c.407C>T	c.(406-408)gCt>gTt	p.A136V	PDE1C_uc003tcn.1_Missense_Mutation_p.A136V|PDE1C_uc003tco.2_Missense_Mutation_p.A196V|PDE1C_uc003tcr.3_Missense_Mutation_p.A136V|PDE1C_uc003tcs.3_Missense_Mutation_p.A136V	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	136					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AAATATCCCAGCCTGCACTGC	0.507000														134			25		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220312757	220312757	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220312757G>A	uc010fwg.3	+	3	877	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	293	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACTGGCCAGCGAAGCCCCACG	0.706000														27			8		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631747	122631747	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122631747G>A	uc003efz.1	-	17	2972	c.2668C>T	c.(2668-2670)Ctg>Ttg	p.L890L	SEMA5B_uc011bju.1_Silent_p.L832L|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.L890L|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	890	TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		ACGCAGGGCAGGCCCCCGTTG	0.687000														76			42		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43067772	43067772	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43067772G>A	uc001zqo.2	-	12	1998	c.1559C>T	c.(1558-1560)tCt>tTt	p.S520F	TTBK2_uc010bcy.2_Missense_Mutation_p.S451F	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	520					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGTGTTGGCAGAAGCAGGCTT	0.502000														90			33		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744553	37744553	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:37744553C>T	uc004aag.1	+	15	2568	c.2524C>T	c.(2524-2526)Cta>Tta	p.L842L	FRMPD1_uc004aah.1_Silent_p.L842L	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	842						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AAGGTCTTTCCTACAGACCGA	0.557000														52			28		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149494363	149494363	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149494363C>T	uc010lpk.3	+	45	6825	c.6825C>T	c.(6823-6825)ttC>ttT	p.F2275F		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2278					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCCCAGATTCCATTCCACAG	0.652000														67			13		0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	87080462	87080462	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:87080462C>T	uc003hps.3	-	3	911	c.225G>A	c.(223-225)caG>caA	p.Q75Q	MAPK10_uc010ikg.3_Silent_p.Q37Q|MAPK10_uc003hpr.3_Silent_p.Q37Q|MAPK10_uc003hpt.3_Silent_p.Q75Q|MAPK10_uc003hpu.3_Silent_p.Q75Q|MAPK10_uc003hpv.3_5'UTR|MAPK10_uc010ikh.1_Non-coding_Transcript|BC038746_uc003hpw.3_Intron	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	75	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding 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|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	p.Q75H(1)		breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		AAACTATGCCCTGAGCCCCAG	0.448000														119			36		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49699234	49699234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:49699234C>T	uc003jom.3	-	5	904	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	EMB_uc010ivq.3_Missense_Mutation_p.E13K|EMB_uc003jol.3_Missense_Mutation_p.E150K|EMB_uc011cpy.2_Missense_Mutation_p.E169K	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	219	Ig-like V-type 2.					integral to membrane		p.E219K(2)		breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				AGCTTTGTTTCGTTAGCATAT	0.378000														65			10		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48349722	48349722	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48349722G>A	uc003toq.2	+	23	9524	c.9500G>A	c.(9499-9501)cGa>cAa	p.R3167Q	ABCA13_uc010kys.1_Missense_Mutation_p.R241Q|ABCA13_uc003tos.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3167					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGGATGTGCGAGCTTTCATT	0.512000														197			86		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115487056	115487056	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:115487056G>A	uc001efr.3	+	23	2232	c.2023G>A	c.(2023-2025)Gaa>Aaa	p.E675K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E675K|SYCP1_uc009wgw.3_Missense_Mutation_p.E675K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	675					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)		AAAGATATCAGAAGAAAATCT	0.274000														60			16		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53839141	53839141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:53839141C>T	uc003dgv.4	+	44	5880	c.5717C>T	c.(5716-5718)cCa>cTa	p.P1906L	CACNA1D_uc003dgu.4_Missense_Mutation_p.P1926L|CACNA1D_uc003dgy.4_Missense_Mutation_p.P1882L|CACNA1D_uc003dgw.4_Missense_Mutation_p.P1573L|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1906					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CGGAGATCTCCAAGGAGACGC	0.572000														84			46		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254947	51254947	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:51254947G>A	uc021vhh.1	-	0	1386	c.465C>T	c.(463-465)gtC>gtT	p.V155V	NRXN1_uc021vhg.1_Silent_p.V155V|NRXN1_uc021vhi.1_Silent_p.V155V|NRXN1_uc021vhj.1_Silent_p.V155V|NRXN1_uc021vhk.1_Silent_p.V155V	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	155	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.K155K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCAGCCCCCCGACGAAAAGGC	0.662000														24			10		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8152010	8152010	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8152010G>A	uc002mjf.3	-	52	6722	c.6705C>T	c.(6703-6705)gtC>gtT	p.V2235V	FBN3_uc002mje.3_Silent_p.V74V	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2235	EGF-like 36; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGGGGGACAGACGCACGCGA	0.627000														59			15		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8193951	8193951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8193951G>A	uc002mjf.3	-	16	2274	c.2257C>T	c.(2257-2259)Ccc>Tcc	p.P753S		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	753	EGF-like 9; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGAAGCCGGGGGGGCAGGAG	0.602000														67			25		0	0	1	0	0
DCN	1634	broad.mit.edu	37	12	91539941	91539941	+	Missense_Mutation	SNP	G	A	A	rs138244851		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:91539941G>A	uc001tbt.3	-	7	1228	c.974C>T	c.(973-975)tCg>tTg	p.S325L	DCN_uc001tbo.3_Missense_Mutation_p.S216L|DCN_uc001tbp.3_Missense_Mutation_p.S178L|DCN_uc001tbq.3_Missense_Mutation_p.S138L|DCN_uc001tbr.3_3'UTR|DCN_uc001tbu.3_Missense_Mutation_p.S325L	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	325					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ACTCACACCCGAATAAGAAGC	0.463000														89			46		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150828306	150828306	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:150828306C>T	uc004fev.4	+	9	1171	c.839C>T	c.(838-840)cCa>cTa	p.P280L		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	280						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)					CCTGAATCTCCAGGTAGGTAC	0.373000														44			31		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24181469	24181469	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24181469G>A	uc003xdy.3	+	8	926	c.843G>A	c.(841-843)ggG>ggA	p.G281G	ADAM28_uc003xdx.3_Silent_p.G281G|ADAM28_uc011kzz.2_Silent_p.G48G|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_5'Flank	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	281	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AATGGAGGGGGAGTGTTCTCT	0.398000														72			32		0	0	1	0	0
AZGP1	563	broad.mit.edu	37	7	99564686	99564686	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99564686G>A	uc003ush.3	-	3	929	c.837C>T	c.(835-837)tcC>tcT	p.S279S		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	279	Ig-like C1-type.				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)					GCACGTGGCAGGAGTAGGGGG	0.622000														106			35		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33464952	33464952	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:33464952G>A	uc003zsz.3	-	20	2805	c.2704C>T	c.(2704-2706)Cga>Tga	p.R902*	NOL6_uc003zsy.3_5'UTR|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Nonsense_Mutation_p.R899*|NOL6_uc011lob.2_Nonsense_Mutation_p.R850*|NOL6_uc003ztb.1_Nonsense_Mutation_p.R902*	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	902					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AAAAGGAATCGAAGGAAGCCA	0.502000														59			23		0	0	1	0	0
LOC401127	401127	broad.mit.edu	37	4	39482951	39482951	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:39482951G>A	uc011byn.2	+	0		c.1077G>A								Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA.																		AACTTCAGACGAAAGAGATTG	0.438000														62			17		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64461881	64461881	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:64461881C>T	uc001xgl.3	+	22	3131	c.2901C>T	c.(2899-2901)atC>atT	p.I967I	SYNE2_uc001xgm.3_Silent_p.I967I|SYNE2_uc021ruh.1_Silent_p.I967I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	967					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAAACTTATCCGTAGAGGAA	0.294000														46			11		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401535	77401535	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:77401535G>A	uc002ffc.4	-	3	1000	c.581C>T	c.(580-582)cCt>cTt	p.P194L	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.	194					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						GTGACCCGCAGGGGAGCTGTA	0.507000														58			30		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74044075	74044075	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74044075G>A	uc002sjr.1	+	2	2846	c.2725G>A	c.(2725-2727)Gaa>Aaa	p.E909K		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	909										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CATTGAAAGGGAAAGAGATAT	0.423000														16			5		0	0	1	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253688	32253688	+	Silent	SNP	G	A	A	rs143748718		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:32253688G>A	uc002yov.3	-	0	187	c.156C>T	c.(154-156)ctC>ctT	p.L52L		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	Homo sapiens keratin associated protein 11-1 (KRTAP11-1), mRNA.	52						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGTGGTCCAGGAGCCAAGAGC	0.572000														53			16		0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122292683	122292683	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:122292683C>T	uc001ubj.3	-	6	380	c.340G>A	c.(340-342)Ggc>Agc	p.G114S	HPD_uc001ubk.3_Missense_Mutation_p.G75S	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	114					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	p.R113L(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	ATTTTGGCGCCCCGTTCCCGT	0.602000														112			15		0	0	1	0	0
C6orf201	404220	broad.mit.edu	37	6	4087912	4087912	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:4087912C>T	uc003mwa.4	+	1	805	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L	FAM217A_uc010jnq.1_5'Flank|FAM217A_uc003mvy.3_5'Flank|C6orf201_uc003mvz.4_Intron|C6orf201_uc011dhw.1_Silent_p.L13L|C6orf201_uc003mwb.4_Non-coding_Transcript	NM_001085401	NP_001078870	Q7Z4U5	CF201_HUMAN	Homo sapiens chromosome 6 open reading frame 201 (C6orf201), mRNA.	13										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TCCGAATCACCTGATGGAGAC	0.488000														279			127		0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44415559	44415559	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44415559C>T	uc001ckx.3	+	1	1350	c.555C>T	c.(553-555)taC>taT	p.Y185Y		NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	185					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TACCCCAGTACCGCAAAGGCC	0.647000														16			6		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73545474	73545474	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73545474G>A	uc001jrx.4	+	41	6180	c.5790G>A	c.(5788-5790)gaG>gaA	p.E1930E		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1933	Cadherin 18.		D -> N (in USH1D).		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						ACAACCCGGAGAATCCACGCA	0.612000														16			5		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422810	26422810	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26422810G>A	uc003abz.1	+	42	7120	c.6870G>A	c.(6868-6870)agG>agA	p.R2290R	MYO18B_uc003aca.1_Silent_p.R2171R|MYO18B_uc010guy.1_Silent_p.R2172R|MYO18B_uc010guz.1_Silent_p.R2170R|MYO18B_uc011aka.1_Silent_p.R1444R|MYO18B_uc011akb.1_Silent_p.R1803R|MYO18B_uc010gva.1_Silent_p.R273R|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2290						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.L2290L(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						CCACACTAAGGAGGGGCAGGG	0.637000														20			4		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14834375	14834375	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:14834375G>A	uc001rcd.3	-	4	785	c.648C>T	c.(646-648)ttC>ttT	p.F216F	GUCY2C_uc009zhz.2_Silent_p.F216F	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	216					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						GTTCGTGGGAGAAATAGGAAA	0.418000														64			14		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63477198	63477198	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:63477198C>T	uc002lkb.3	+	2	895	c.469C>T	c.(469-471)Cca>Tca	p.P157S	CDH7_uc002ljz.3_Missense_Mutation_p.P157S|CDH7_uc002lka.3_Missense_Mutation_p.P157S	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	157	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTTGGATGGCCCATACACGGC	0.463000														133			57		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179603649	179603649	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179603649C>T	uc010pnp.2	+	7	1702	c.1184C>T	c.(1183-1185)tCa>tTa	p.S395L	TDRD5_uc021pfm.1_Missense_Mutation_p.S395L|TDRD5_uc001gnf.2_Missense_Mutation_p.S395L|TDRD5_uc021pfn.1_Missense_Mutation_p.S395L|TDRD5_uc001gnh.2_5'UTR	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	395					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CCTAGAAATTCATTGTCTACT	0.388000														116			46		0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21396000	21396000	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:21396000G>A	uc001unq.4	-	8	1052	c.1016C>T	c.(1015-1017)tCt>tTt	p.S339F		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	339					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CACAGCTTCAGAATCTTCTAT	0.338000														45			17		0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799175	45799175	+	Silent	SNP	G	A	A	rs146049499		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:45799175G>A	uc001jcc.1	-	3	1005	c.696C>T	c.(694-696)acC>acT	p.T232T	OR13A1_uc001jcd.1_Silent_p.T228T|OR13A1_uc021ppq.1_Silent_p.T232T	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGGACGCGATGGTCATCAGGA	0.572000														82			26		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38860616	38860616	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38860616C>T	uc002oih.4	+	26	3112	c.3025C>T	c.(3025-3027)Ctc>Ttc	p.L1009F	CATSPERG_uc002oig.4_Missense_Mutation_p.L969F|CATSPERG_uc002oif.4_Missense_Mutation_p.L649F|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	1009					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TTGCAGGTGGCTCTGTCTGGA	0.512000														154			68		0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147122011	147122011	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:147122011G>A	uc001epr.2	-	7	1376	c.912C>T	c.(910-912)ttC>ttT	p.F304F	ACP6_uc009wjj.1_3'UTR	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	304					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					GGATGTGGAGGAATGGGCCTA	0.522000														45			23		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44685808	44685809	+	Splice_Site	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44685808_44685809GG>AA	uc010zxl.1	+	25	3271	c.3195_splice	c.e25-1	p.L1065_splice	SLC12A5_uc002xrb.2_Splice_Site_p.L1042_splice	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	1065					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCTGCCGCAGGAACCAGTCCA	0.629000														61			10		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1367606	1367606	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:1367606T>G	uc003boz.3	+	8	1321	c.1054T>G	c.(1054-1056)Tta>Gta	p.L352V	CNTN6_uc011asj.2_Missense_Mutation_p.L280V|CNTN6_uc003bpa.3_Missense_Mutation_p.L352V	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	352	Ig-like C2-type 4.				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)		GTATACATGGTTAAAAAATGG	0.363000														58			34		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120474838	120474838	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:120474838C>T	uc004bjz.3	+	2	723	c.432C>T	c.(430-432)ttC>ttT	p.F144F	TLR4_uc004bkb.3_5'UTR|TLR4_uc004bka.3_Silent_p.F104F	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	144					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TAGAGAACTTCCCCATTGGAC	0.408000														74			30		0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77456024	77456024	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:77456024C>T	uc002lnh.2	+	2	593	c.446C>T	c.(445-447)aCc>aTc	p.T149I	CTDP1_uc002lni.2_Missense_Mutation_p.T149I|CTDP1_uc010drd.2_Missense_Mutation_p.T149I|CTDP1_uc021ult.1_Missense_Mutation_p.T30I	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	149					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TCCACGGCGACCGTGTCCATG	0.622000														27			10		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197066061	197066061	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:197066061G>A	uc002utm.1	-	28	4842	c.4659C>T	c.(4657-4659)tcC>tcT	p.S1553S	HECW2_uc002utl.1_Silent_p.S1197S	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1553	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CATAAAGCATGGAAAAGGATG	0.453000														83			34		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447461	226447461	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:226447461G>A	uc002voe.2	+	3	1503	c.1328G>A	c.(1327-1329)gGg>gAg	p.G443E	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.G213E	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	443	Pro-rich.																GTCAGCATGGGGAGGTCCCTG	0.632000														44			25		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40357655	40357655	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40357655C>T	uc002omp.4	-	33	15666	c.15658G>A	c.(15658-15660)Gag>Aag	p.E5220K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5220						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCTTGACCTCACATACACGG	0.637000														53			23		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141803210	141803210	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141803210C>T	uc003vwy.3	+	46	5521	c.5467C>T	c.(5467-5469)Ccc>Tcc	p.P1823S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1823					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)	GGTCATAACACCCTCCTTCAA	0.493000														22			9		0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52822481	52822481	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52822481C>T	uc001saj.2	-	5	1104	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	361	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TTTGGTGTTTCGAAGGTCATC	0.527000														79			12		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349741	100349741	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100349741C>T	uc003uwj.3	+	13	2178	c.2013C>T	c.(2011-2013)tcC>tcT	p.S671S	ZAN_uc003uwk.3_Silent_p.S671S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	671	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACCACCTCCATGGAAGAGC	0.522000														69			25		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467317	74467317	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74467317G>A	uc002axg.1	+	1	400	c.118G>A	c.(118-120)Gac>Aac	p.D40N	ISLR_uc002axh.1_Missense_Mutation_p.D40N|ISLR_uc021sqf.1_Missense_Mutation_p.D40N	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	40	LRRNT.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGCCTACCGCGACCTAGAATC	0.652000														102			29		0	0	1	0	0
OXTR	5021	broad.mit.edu	37	3	8794753	8794753	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:8794753C>T	uc003brc.3	-	3	1702	c.1080G>A	c.(1078-1080)acG>acA	p.T360T		NM_000916	NP_000907	P30559	OXYR_HUMAN	Homo sapiens oxytocin receptor (OXTR), mRNA.	360					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	TGCTGGCACTCGTCTCTCCCA	0.622000														50			29		0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088523	57088523	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57088523C>T	uc002qnl.4	+	5	1402	c.726C>T	c.(724-726)acC>acT	p.T242T	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AAATCTCAACCCTTACTCTTC	0.373000														67			21		0	0	1	0	0
C14orf49	161176	broad.mit.edu	37	14	95921884	95921884	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:95921884G>A	uc001yei.4	-	4	982	c.967C>T	c.(967-969)Ctg>Ttg	p.L323L	C14orf49_uc010avi.3_Silent_p.L323L|C14orf49_uc001yej.1_Silent_p.L323L	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	323					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		AGGCCCCGCAGCCGCTCCTCC	0.622000														114			41		0	0	1	0	0
BEX1	55859	broad.mit.edu	37	X	102318005	102318005	+	Missense_Mutation	SNP	C	T	T	rs1045082		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:102318005C>T	uc022cbj.1	-	0	198	c.198G>A	c.(196-198)atG>atA	p.M66I	BEX1_uc004ejt.1_Missense_Mutation_p.M66I	NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN	Homo sapiens brain expressed, X-linked 1 (BEX1), mRNA.	66			M -> I (in dbSNP:rs1045082).		cell differentiation|nervous system development	cytoplasm|nucleus				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						GCCTATGCATCATATCCCATC	0.517000														62			117		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588011	204588011	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204588011G>A	uc021phy.1	-	0	1110	c.1110C>T	c.(1108-1110)ccC>ccT	p.P370P	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Silent_p.P370P|LRRN2_uc001hbf.1_Silent_p.P370P|LRRN2_uc009xbf.1_Silent_p.P370P|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	370	LRRCT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CACAGCGGATGGGGTTGCCGT	0.637000														69			25		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21840889	21840889	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:21840889G>T	uc003svc.3	+	62	10213	c.10182G>T	c.(10180-10182)gaG>gaT	p.E3394D		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3394	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGAACTTGAGGCAAGTTAAA	0.358000									Kartagener syndrome					25			3		0.150653	0.150664	1	1	0
WDR35	57539	broad.mit.edu	37	2	20169345	20169345	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:20169345G>A	uc002rdi.3	-	8	1012	c.904C>T	c.(904-906)Cct>Tct	p.P302S	WDR35_uc002rdj.3_Missense_Mutation_p.P302S|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_5'UTR	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	302										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTTCCAGGAACTTTCAAA	0.338000														50			26		0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8752443	8752443	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:8752443G>A	uc001mgt.3	-	2	580	c.394C>T	c.(394-396)Ctc>Ttc	p.L132F	ST5_uc009yfr.3_Intron|ST5_uc001mgu.3_Intron|ST5_uc001mgv.3_Missense_Mutation_p.L132F|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Missense_Mutation_p.L132F	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	132					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GCAAGGGGGAGGCAGGCAGCG	0.667000														75			16		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588598	247588598	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247588598C>T	uc001icr.3	+	4	1991	c.1853C>T	c.(1852-1854)gCt>gTt	p.A618V	NLRP3_uc001ics.3_Missense_Mutation_p.A618V|NLRP3_uc001icu.3_Missense_Mutation_p.A618V|NLRP3_uc001icw.3_Missense_Mutation_p.A618V|NLRP3_uc001icv.3_Missense_Mutation_p.A618V|NLRP3_uc010pyw.2_Missense_Mutation_p.A616V|NLRP3_uc001ict.1_Missense_Mutation_p.A616V	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	618					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.A618V(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAAGCCAAAGCTAAAAAGCTG	0.483000														51			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086960	9086960	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9086960C>T	uc002mkp.3	-	0	5059	c.4855G>A	c.(4855-4857)Gag>Aag	p.E1619K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1619	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						GGGCCAGTCTCAATCTCTCTG	0.512000														143			56		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35829246	35829247	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35829246_35829247CC>TT	uc010edt.3	+	5	1245_1246	c.1161_1162CC>TT	c.(1159-1164)ctcccc>ctTTcc	p.P388S	CD22_uc010edu.3_Intron|CD22_uc010edv.3_Missense_Mutation_p.P388S|CD22_uc002nzb.4_Intron|CD22_uc010xst.2_Missense_Mutation_p.P216S|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	388	Ig-like C2-type 3.				cell adhesion		protein binding|sugar binding	p.P388P(1)		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)	CAAAGATCCTCCCCTGGCACGC	0.530000														80			29		0	0	1	0	0
GLTPD1	80772	broad.mit.edu	37	1	1262938	1262938	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1262938C>T	uc001aeo.3	+	2	855	c.440C>T	c.(439-441)gCc>gTc	p.A147V	CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001ael.2_5'Flank|CPSF3L_uc001aen.1_5'Flank	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN	Homo sapiens glycolipid transfer protein domain containing 1 (GLTPD1), mRNA.	147						cytoplasm	glycolipid binding|glycolipid transporter activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCTCGCTGGCCGCCTACCAC	0.721000														10			3		0	0	1	0	0
JHDM1D	80853	broad.mit.edu	37	7	139801824	139801824	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:139801824G>A	uc003vvm.3	-	11	1569	c.1565C>T	c.(1564-1566)cCt>cTt	p.P522L	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	522					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TAGGTTAGAAGGAGTTCGGAC	0.433000														165			38		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899584	133899584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133899584C>T	uc003ytw.3	+	8	2008	c.1967C>T	c.(1966-1968)cCa>cTa	p.P656L		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	656	Thyroglobulin type-1 5.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGTGGACAGCCAAGGTGCCCC	0.547000														47			17		0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141675040	141675040	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:141675040G>A	uc003yvu.3	-	30	3232	c.2922C>T	c.(2920-2922)ctC>ctT	p.L974L	PTK2_uc011ljp.2_Silent_p.L282L|PTK2_uc003yvo.3_Silent_p.L602L|PTK2_uc011ljq.2_Silent_p.L672L|PTK2_uc003yvp.3_Silent_p.L642L|PTK2_uc003yvq.3_Silent_p.L479L|PTK2_uc003yvr.3_Silent_p.L917L|PTK2_uc003yvs.3_Silent_p.L928L|PTK2_uc011ljr.2_Silent_p.L987L|PTK2_uc003yvt.3_Silent_p.L996L|PTK2_uc003yvv.3_Silent_p.L877L	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	974	Interaction with RGNEF (By similarity).|Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGGCTGGTAGGAGGGGAATGG	0.542000														23			11		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849490	54849490	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54849490G>A	uc002qfj.3	-	3	429	c.372C>T	c.(370-372)acC>acT	p.T124T	LILRA4_uc002qfi.3_Silent_p.T58T	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	124	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTGCGGACAGGGTGGGTCTGC	0.572000														46			13		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554157	140554157	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140554157G>A	uc003lit.3	+	0	1915	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	581	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGGCGGCCGAGCCGGGCTA	0.711000														119			37		0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3147762	3147762	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:3147762G>A	uc001lxk.2	-	2	318	c.160C>T	c.(160-162)Ccg>Tcg	p.P54S	OSBPL5_uc010qxq.1_Missense_Mutation_p.P6S|OSBPL5_uc009ydw.2_Missense_Mutation_p.P54S|OSBPL5_uc001lxl.2_Missense_Mutation_p.P54S|OSBPL5_uc009ydx.3_Missense_Mutation_p.P78S|OSBPL5_uc001lxm.1_Non-coding_Transcript	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	54					Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGCAGCGACGGGCCGTTGGGC	0.657000														23			9		0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187479	123187479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:123187479G>A	uc001ucx.1	-	0	426	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	118					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	ACCACCGTGAGGAAGATGATG	0.562000														79			21		0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37580070	37580070	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:37580070G>A	uc002hrv.4	-	11	1068	c.856C>T	c.(856-858)Cct>Tct	p.P286S	MED1_uc010wee.2_Missense_Mutation_p.P114S|MED1_uc002hru.2_Missense_Mutation_p.P286S	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	286	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GAGAAGGAAGGGGTCCTTCAA	0.403000										HNSCC(31;0.082)				29			28		0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57367553	57367553	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57367553G>A	uc001nkp.1	+	2	444	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	SERPING1_uc010rju.1_Missense_Mutation_p.E33K|SERPING1_uc010rjv.1_Missense_Mutation_p.E90K|SERPING1_uc001nkr.1_Missense_Mutation_p.E85K|SERPING1_uc001nks.1_Intron	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	85	7 X 4 AA tandem repeats of [QE]-P-T-[TQ].		Missing (in HAE; type 2).		blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						taccactgatgaacccaccac	0.527000														27			6		0	0	1	0	0
PI3	5266	broad.mit.edu	37	20	43803611	43803611	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43803611G>A	uc002xng.3	+	0	72	c.48G>A	c.(46-48)ggG>ggA	p.G16G		NM_002638	NP_002629	P19957	ELAF_HUMAN	Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA.	16					copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TCATCGCTGGGACGCTGGTTC	0.577000														57			20		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113421178	113421178	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:113421178G>A	uc003ynu.3	-	32	5638	c.5479C>T	c.(5479-5481)Ctg>Ttg	p.L1827L	CSMD3_uc003yns.3_Intron|CSMD3_uc003ynt.3_Silent_p.L1787L|CSMD3_uc011lhx.2_Silent_p.L1723L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1827	CUB 10.					integral to membrane|plasma membrane				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						GAAGATAACAGAGAAGATTGC	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				130			37		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145109485	145109485	+	Missense_Mutation	SNP	C	T	T	rs149290437	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145109485C>T	uc003zar.3	-	18	2747	c.2665G>A	c.(2665-2667)Ggg>Agg	p.G889R	OPLAH_uc003zas.1_Missense_Mutation_p.G163E	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	889							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	AAGACGCCCCCCTGGACAAGT	0.647000														17			6		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13770902	13770902	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13770902G>A	uc003jfd.2	-	55	9603	c.9561C>T	c.(9559-9561)ttC>ttT	p.F3187F	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3187	Stalk (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)					CTCCATATATGAACTTATAGC	0.458000									Kartagener syndrome					61			28		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	38997691	38997691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:38997691C>T	uc011aej.1	-	3	1095	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	KCNJ6_uc002ywo.2_Missense_Mutation_p.E348K	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	348					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TAGTCAACTTCGTAGAACCCG	0.567000														77			20		0	0	1	0	0
BDH1	622	broad.mit.edu	37	3	197239115	197239115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:197239115G>A	uc003fxr.3	-	7	1085	c.683C>T	c.(682-684)cCc>cTc	p.P228L	BDH1_uc003fxs.3_Missense_Mutation_p.P228L|BDH1_uc003fxu.3_Missense_Mutation_p.P228L	NM_203314	NP_976060	Q02338	BDH_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	228					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	CACGCCCAGGGGGTACATCTC	0.622000														25			19		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327273	152327273	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152327273A>T	uc001ezw.4	-	2	3062	c.2989T>A	c.(2989-2991)Tct>Act	p.S997T	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	997	Ser-rich.						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)			CCATAATTAGACTGACTTGAT	0.488000														390			160		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83711968	83711968	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:83711968C>T	uc010vns.2	+	10	1845	c.1581C>T	c.(1579-1581)gaC>gaT	p.D527D	CDH13_uc002fgx.3_Silent_p.D480D|CDH13_uc010vnt.2_Silent_p.D226D|CDH13_uc010vnu.2_Silent_p.D441D	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	480	Cadherin 4.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TCTACCCAGACCCCATGATGG	0.612000														55			9		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71978050	71978050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:71978050G>A	uc001swl.3	+	17	2308	c.2260G>A	c.(2260-2262)Gga>Aga	p.G754R	LGR5_uc001swm.3_Missense_Mutation_p.G730R|LGR5_uc021rar.1_Missense_Mutation_p.G682R|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	754						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTTGGACAAGGGAGACCTGGA	0.483000														129			19		0	0	1	0	0
CLASRP	11129	broad.mit.edu	37	19	45563679	45563679	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45563679C>T	uc002pak.3	+	8	841	c.743C>T	c.(742-744)gCc>gTc	p.A248V	CLASRP_uc002pal.3_Non-coding_Transcript|CLASRP_uc010xxh.2_Missense_Mutation_p.A186V|CLASRP_uc002pam.3_Missense_Mutation_p.A248V|CLASRP_uc002pan.1_Non-coding_Transcript	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	Homo sapiens CLK4-associating serine/arginine rich protein (CLASRP), mRNA.	248					RNA splicing|mRNA processing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GAGGCAGAGGCCATCAAGCAT	0.592000														65			22		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23237025	23237025	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:23237025C>T	uc009vqj.1	+	13	2798	c.2653C>T	c.(2653-2655)Cgc>Tgc	p.R885C	EPHB2_uc001bge.3_Missense_Mutation_p.R886C|EPHB2_uc001bgf.3_Missense_Mutation_p.R885C|EPHB2_uc010odu.2_Missense_Mutation_p.R827C	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	885					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAAGATGATCCGCAATCCCAA	0.637000														51			12		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254708	51254708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:51254708G>A	uc021vhh.1	-	0	1625	c.704C>T	c.(703-705)tCc>tTc	p.S235F	NRXN1_uc021vhg.1_Missense_Mutation_p.S235F|NRXN1_uc021vhi.1_Missense_Mutation_p.S235F|NRXN1_uc021vhj.1_Missense_Mutation_p.S235F|NRXN1_uc021vhk.1_Missense_Mutation_p.S235F	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	235	EGF-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTCCACCACGGAGCACACACC	0.726000														19			15		0	0	1	0	0
P2RX5	5026	broad.mit.edu	37	17	3595085	3595085	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3595085C>T	uc002fwi.3	-	1	540	c.141G>A	c.(139-141)tgG>tgA	p.W47*	P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Nonsense_Mutation_p.W11*|P2RX5_uc002fwk.3_Nonsense_Mutation_p.W47*|P2RX5_uc002fwj.3_Nonsense_Mutation_p.W47*|P2RX5_uc002fwl.3_Nonsense_Mutation_p.W47*|P2RX5_uc002fwm.2_Nonsense_Mutation_p.W47*	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.	47					nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.W47L(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						TCAGGAACACCCATCTGTGGG	0.597000														77			30		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6174985	6174985	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:6174985C>T	uc003mwv.3	-	11	1698	c.1575G>A	c.(1573-1575)gtG>gtA	p.V525V	F13A1_uc011dib.2_Silent_p.V462V	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	525					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CAGCATTTTCCACTTCAAAGT	0.478000														42			24		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177247750	177247750	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:177247750C>T	uc001glf.3	+	6	1376	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	FAM5B_uc010pna.1_Missense_Mutation_p.S105F|FAM5B_uc001glg.3_Missense_Mutation_p.S250F	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	355						extracellular region				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						TTCCTGAACTCCACAGCTATC	0.562000														236			71		0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084349	248084349	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248084349C>T	uc010pzc.2	+	0	30	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTCTTATTTCATTCTCCTAG	0.413000														84			31		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	95485	95485	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000209.1:95485C>T	uc002quk.1	+	7	926	c.871C>T	c.(871-873)Caa>Taa	p.Q291*	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_5'Flank	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	291							receptor activity										CTCTGATGATCAAGACCCTCA	0.498000														222			81		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764208	92764208	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92764208C>T	uc003umh.1	-	4	2293	c.1077G>A	c.(1075-1077)cgG>cgA	p.R359R	SAMD9L_uc003umj.1_Silent_p.R359R|SAMD9L_uc003umi.1_Silent_p.R359R|SAMD9L_uc010lfb.1_Silent_p.R359R|SAMD9L_uc003umk.1_Silent_p.R359R|SAMD9L_uc010lfc.1_Silent_p.R359R|SAMD9L_uc010lfd.1_Silent_p.R359R|SAMD9L_uc022ahh.1_Silent_p.R359R	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	359								p.R359L(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AATCTACATCCCGTTGCTTGG	0.368000														211			33		0	0	1	0	0
PRPF4	9128	broad.mit.edu	37	9	116053831	116053831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116053831C>T	uc004bgx.3	+	13	1570	c.1460C>T	c.(1459-1461)aCt>aTt	p.T487I	PRPF4_uc004bgy.3_Missense_Mutation_p.T486I	NM_004697	NP_004688	O43172	PRP4_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.	487						Cajal body|U4/U6 snRNP|nuclear speck|spliceosomal complex	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						CCGCTGAAGACTCTGGCTGGC	0.522000														103			10		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52539740	52539740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:52539740G>A	uc010bff.3	-	14	1958	c.1796C>T	c.(1795-1797)cCt>cTt	p.P599L	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	599	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGAACCAAAAGGAGAAGGAGG	0.438000														79			30		0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134179613	134179613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:134179613G>A	uc009zdf.3	+	10	1415	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E	GLB1L3_uc010scu.1_Missense_Mutation_p.G53E|GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	352					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TTCATGAACGGGGCCACATAT	0.483000														18			6		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519127	113519127	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:113519127C>T	uc010ljy.1	-	3	2051	c.2020G>A	c.(2020-2022)Gag>Aag	p.E674K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	674					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTGATATGCTCTGTTATGTTT	0.373000														272			58		0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52775247	52775247	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52775247G>A	uc001sah.1	-	4	1023	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	325	Linker 12.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGGTCACGGCTGTTGTCCA	0.557000														162			85		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467747	10467747	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10467747C>T	uc003wtc.3	-	3	4090	c.3861G>A	c.(3859-3861)tcG>tcA	p.S1287S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1287					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)		GCTCCAGGTTCGAGCTCGCCC	0.522000														174			21		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32137827	32137827	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:32137827C>T	uc001rks.3	+	3	4352	c.3938C>T	c.(3937-3939)tCt>tTt	p.S1313F		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1313										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			ATGACAGCATCTTATGAACAA	0.348000														77			16		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39821156	39821156	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39821156G>A	uc010lwy.1	+	2	410	c.168G>A	c.(166-168)tgG>tgA	p.W56*	IDO2_uc003xno.1_Non-coding_Transcript	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	43					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						ATAGGCCTTGGATGGAAATTG	0.398000														16			6		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70672748	70672748	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:70672748G>A	uc003pfc.1	+	10	1129	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	COL19A1_uc010kam.2_Missense_Mutation_p.E234K	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	338	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CAGCAAAGGAGAAACTGGTGA	0.284000														42			17		0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158974352	158974353	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:158974352_158974353CC>TT	uc002tzo.3	+	5	547_548	c.527_528CC>TT	c.(526-528)ccc>cTT	p.P176L	UPP2_uc002tzp.3_Missense_Mutation_p.P119L	NM_001135098	NP_775491	O95045	UPP2_HUMAN	Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.	119					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	p.Q175E(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						ATGGGCATCCCCTCCATTTCTA	0.411000														102			12		0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76829014	76829014	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:76829014C>T	uc003ugb.3	-	0	137	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	33					signal transduction	fibrinogen complex	receptor binding	p.D32N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TTTGCTCTTTCATCTTTAATT	0.488000														109			20		0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978659	10978659	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10978659G>A	uc001qyy.1	-	0	210	c.210C>T	c.(208-210)ttC>ttT	p.F70F		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	70					sensory perception of taste	integral to membrane	taste receptor activity	p.I69V(1)		breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TATTTGGAGAGAATATCTGTA	0.333000														44			18		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54844923	54844923	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54844923G>A	uc002qfj.3	-	7	1477	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S	LILRA4_uc002qfi.3_Missense_Mutation_p.P408S	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	474						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CACCTTGGGGGGCTTCTCTGG	0.547000														71			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056224	9056224	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9056224C>T	uc002mkp.3	-	2	31426	c.31222G>A	c.(31222-31224)Gga>Aga	p.G10408R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10410	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						GTCACTGTTCCCAGCTCAACG	0.478000														202			45		0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22039149	22039149	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22039149C>T	uc010gtj.1	+	9	777	c.661C>T	c.(661-663)Ctg>Ttg	p.L221L	PPIL2_uc002zvh.4_Silent_p.L221L|PPIL2_uc002zvi.4_Silent_p.L221L|PPIL2_uc002zvg.4_Silent_p.L221L|PPIL2_uc011aij.2_Silent_p.L200L|PPIL2_uc002zvk.4_5'Flank	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	221					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GGACGAGATTCTGGCAGCCAC	0.562000														39			24		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41004579	41004579	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41004579G>A	uc003jmj.4	-	36	4553	c.4063C>T	c.(4063-4065)Cac>Tac	p.H1355Y	HEATR7B2_uc003jmi.4_Missense_Mutation_p.H910Y	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1355							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						CGAGCTAGGTGATACAGGCCT	0.403000														64			28		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177249815	177249815	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:177249815C>T	uc001glf.3	+	7	1815	c.1503C>T	c.(1501-1503)aaC>aaT	p.N501N	FAM5B_uc001glg.3_Silent_p.N396N	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	501						extracellular region				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						CCCTGGAAAACTTTCTTGGGC	0.577000														73			15		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680491	128680491	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:128680491G>A	uc010sbu.2	+	8	1310	c.967G>A	c.(967-969)Gag>Aag	p.E323K	FLI1_uc010sbt.2_Missense_Mutation_p.E130K|FLI1_uc010sbv.2_Missense_Mutation_p.E290K|FLI1_uc009zci.3_Missense_Mutation_p.E257K	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	323				E -> Q (in Ref. 4; AAB23637 and 5; AAA58479/AAA58480).	hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G322G(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GCGCTGGGGCGAGCGGAAAAG	0.552000			T	EWSR1	Ewing sarcoma									28			12		0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150731895	150731895	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150731895C>T	uc003wil.4	+	5	888	c.795C>T	c.(793-795)tcC>tcT	p.S265S	ABCB8_uc003wii.2_Silent_p.S285S|ABCB8_uc010lpw.1_Silent_p.S67S|ABCB8_uc010lpx.3_Silent_p.S248S|ABCB8_uc011kvd.2_Silent_p.S160S|ABCB8_uc003wim.4_Silent_p.S43S|ABCB8_uc003wik.4_Silent_p.S248S	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA.	265	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.S248S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTAAGTCATCCTTCAAGCTTG	0.572000														44			10		0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194117701	194117702	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:194117701_194117702CC>TT	uc003ftv.1	-	1	1341_1342	c.1310_1311GG>AA	c.(1309-1311)cgg>cAA	p.R437Q	GP5_uc021xiz.1_Missense_Mutation_p.R437Q	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	437	LRRCT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CTAGGTGCTGCCGCAGCCACCC	0.757000														1			7		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55935584	55935584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55935584C>T	uc003pcs.3	-	20	2210	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K	COL21A1_uc010jzz.3_Missense_Mutation_p.E45K|COL21A1_uc011dxg.2_Missense_Mutation_p.E45K|COL21A1_uc011dxh.2_Missense_Mutation_p.E45K|COL21A1_uc003pcr.3_Silent_p.V17V	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	660					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATTCCAGGTTCACCTTTGCTT	0.328000														24			7		0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22926370	22926370	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:22926370C>T	uc003xcu.2	-	0	331	c.38G>A	c.(37-39)gGg>gAg	p.G13E	LOC286059_uc003xcw.1_Intron|TNFRSF10B_uc011kzq.1_5'UTR|TNFRSF10B_uc003xcv.2_5'UTR|TNFRSF10B_uc003xct.2_Missense_Mutation_p.G13E	NM_003842	NP_003833	O14763	TR10B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10b (TNFRSF10B), transcript variant 1, mRNA.	13					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	TRAIL binding|caspase activator activity|receptor activity			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TTTCCGGGCCCCCGAAGCGGC	0.677000														33			23		0	0	1	0	0
SLC25A32	81034	broad.mit.edu	37	8	104412716	104412716	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:104412716G>A	uc003yll.3	-	6	1174	c.871C>T	c.(871-873)Cca>Tca	p.P291S	SLC25A32_uc011lhr.2_Missense_Mutation_p.P159S	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	Homo sapiens solute carrier family 25, member 32 (SLC25A32), nuclear gene encoding mitochondrial protein, mRNA.	291					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	CAGCAGGCTGGAGTCACTCTA	0.368000														140			13		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163241435	163241435	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:163241435C>T	uc002uch.2	-	12	2954	c.2725G>A	c.(2725-2727)Gat>Aat	p.D909N		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	909					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCTTCAGGATCATTTGTACTG	0.338000														70			36		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81172151	81172151	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:81172151C>T	uc002bfw.1	+	3	596	c.336C>T	c.(334-336)gcC>gcT	p.A112A	KIAA1199_uc010unn.1_Silent_p.A112A	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	112	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGGGAGTGCCCTCTGCCCTT	0.517000														92			10		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51921498	51921498	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:51921498C>T	uc003pah.1	-	17	1967	c.1691G>A	c.(1690-1692)cGa>cAa	p.R564Q	PKHD1_uc003pai.3_Missense_Mutation_p.R564Q	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	564					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GACAGCACCTCGTTCAAATCC	0.408000														91			39		0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158669801	158669801	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158669801G>A	uc001fsu.1	-	0	642	c.642C>T	c.(640-642)ctC>ctT	p.L214L		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ACATGAAGATGAGCATCACAG	0.493000														80			46		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64484025	64484025	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:64484025C>T	uc003jtp.3	-	21	3542	c.2728G>A	c.(2728-2730)Gaa>Aaa	p.E910K	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	910	TSP type-1 3.				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)		TTGCTGCATTCCAACCAATCC	0.498000														135			37		0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17550869	17550869	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17550869C>T	uc001bah.1	+	3	446	c.354C>T	c.(352-354)tcC>tcT	p.S118S		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	118					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CAGATATTTCCCTTGAGGTTG	0.592000														23			11		0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51943380	51943380	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:51943380G>A	uc001vfk.3	-	15	2785	c.2171C>T	c.(2170-2172)tCa>tTa	p.S724L	INTS6_uc001vfi.3_Missense_Mutation_p.S408L|INTS6_uc001vfj.3_Missense_Mutation_p.S711L|INTS6_uc001vfl.3_Missense_Mutation_p.S546L	NM_012141	NP_001035026	Q9UL03	INT6_HUMAN	Homo sapiens integrator complex subunit 6 (INTS6), transcript variant 1, mRNA.	724					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	p.S724L(2)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AATGTCTGATGAAAGTTGGTC	0.388000														64			9		0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57290234	57290234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:57290234C>T	uc002ixi.3	+	2	2092	c.2050C>T	c.(2050-2052)Cct>Tct	p.P684S		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	684					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AGAAAAAGAACCTCAAACCCA	0.468000														186			56		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13845085	13845085	+	Missense_Mutation	SNP	C	T	T	rs146830682		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13845085C>T	uc003jfd.2	-	31	5174	c.5132G>A	c.(5131-5133)cGa>cAa	p.R1711Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1711	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1711Q(2)		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)					AAAGCACAGTCGTTTTTTCTC	0.453000									Kartagener syndrome					52			9		0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583659	145583659	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145583659C>T	uc003zcc.2	+	2	671	c.507C>T	c.(505-507)cgC>cgT	p.R169R	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Silent_p.R169R|SLC52A2_uc010mfy.2_Silent_p.R169R|SLC52A2_uc011llc.2_Silent_p.R81R|SLC52A2_uc003zcd.2_Silent_p.R169R	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	169						integral to plasma membrane	receptor activity|riboflavin transporter activity										GTGTGGGCCGCCTCGAGTGCC	0.667000														110			27		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600079	29600079	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29600079C>T	uc001usl.4	+	0	1332	c.1274C>T	c.(1273-1275)tCa>tTa	p.S425L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	415						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGCAAAATTTCACCATGTGCA	0.507000														23			14		0	0	1	0	0
FA2H	79152	broad.mit.edu	37	16	74750319	74750319	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:74750319G>A	uc002fde.2	-	5	1041	c.965C>T	c.(964-966)tCg>tTg	p.S322L	FA2H_uc002fdd.2_Missense_Mutation_p.S95L|FA2H_uc010vmy.2_Non-coding_Transcript	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	322					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CTTGTGCGGCGAGCCAAAGTG	0.602000														33			23		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457833	45457833	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:45457833G>A	uc001rol.3	-	0		c.1362C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		GCTTTGTTTAGGCGAAAGGTC	0.458000														130			38		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90500527	90500527	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90500527G>A	uc004app.4	+	3	1160	c.1125G>A	c.(1123-1125)atG>atA	p.M375I	FAM75E1_uc004apo.1_Missense_Mutation_p.M187I	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	375						integral to membrane											GAGCACTGATGAAGATGTGGC	0.562000														55			40		0	0	1	0	0
PRSS22	64063	broad.mit.edu	37	16	2903927	2903927	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2903927C>T	uc002cry.1	-	4	722	c.656G>A	c.(655-657)gGa>gAa	p.G219E		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	219	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						AGTGATGGGTCCCTGTCCTGC	0.637000														48			20		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207758014	207758014	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207758014C>T	uc001hfy.3	+	24	4113	c.3973C>T	c.(3973-3975)Cca>Tca	p.P1325S	CR1_uc009xcl.1_Missense_Mutation_p.P875S|CR1_uc001hfx.3_Missense_Mutation_p.P1775S|CR1_uc021pij.1_Missense_Mutation_p.P1325S	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1325	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCAAATCCTCCAGCTATCCT	0.388000														117			31		0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111887485	111887485	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:111887485G>A	uc001pml.3	+	18	2121	c.1824G>A	c.(1822-1824)cgG>cgA	p.R608R	DIXDC1_uc001pmm.3_Silent_p.R397R|DIXDC1_uc001pmn.3_Silent_p.R315R|DIXDC1_uc010rwq.2_Silent_p.R274R	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1, mRNA.	609	DIX.				Wnt receptor signaling pathway|multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TCACTGACCGGTCACTTACGC	0.438000														8			6		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921236	24921236	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24921236C>T	uc001ywo.3	+	0	696	c.222C>T	c.(220-222)ctC>ctT	p.L74L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	74					cell differentiation|multicellular organismal development|spermatogenesis			p.P73N(1)		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)		CGTGTCCTCTCCCTCGGGCTG	0.711000														38			15		0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95518576	95518576	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95518576C>T	uc001kjc.4	+	1	611	c.275C>T	c.(274-276)tCg>tTg	p.S92L	LGI1_uc021pwk.1_Missense_Mutation_p.S92L|LGI1_uc010qnv.2_Missense_Mutation_p.S92L|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	92					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TTCACGCCATCGCTGCAGCTC	0.313000														52			30		0	0	1	0	0
C9orf139	401563	broad.mit.edu	37	9	139929438	139929438	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139929438G>A	uc004ckp.1	+	2	2019	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	Homo sapiens chromosome 9 open reading frame 139 (C9orf139), mRNA.	169										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGAAAGAAAAGGGCATGAGTC	0.622000														114			13		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390061	48390061	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48390061C>T	uc001jez.3	-	0	931	c.817G>A	c.(817-819)Gag>Aag	p.E273K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	273	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AAGTCAGACTCGCCTATCCTC	0.677000														25			10		0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15565261	15565261	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15565261G>A	uc002nbe.2	-	12	2157	c.2071C>T	c.(2071-2073)Ccc>Tcc	p.P691S	RASAL3_uc002nbd.3_Missense_Mutation_p.P31S	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	691					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TAACCACTGGGGGCAGCATCC	0.557000											OREG0025322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			17		0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108998338	108998338	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:108998338G>A	uc002tea.1	+	1	663	c.290G>A	c.(289-291)gGa>gAa	p.G97E	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Missense_Mutation_p.G97E	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	97					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CCATCCTTAGGATCTGGTGAG	0.373000														76			18		0	0	1	0	0
RSAD2	91543	broad.mit.edu	37	2	7018127	7018127	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:7018127C>T	uc002qyp.1	+	0	332	c.196C>T	c.(196-198)Cct>Tct	p.P66S		NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 2 (RSAD2), mRNA.	66					defense response to virus	Golgi apparatus|endoplasmic reticulum membrane	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GGAAGAGGACCCTCCTCTGCC	0.552000														57			23		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196737056	196737056	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196737056G>A	uc002utj.4	-	39	6652	c.6551C>T	c.(6550-6552)tCc>tTc	p.S2184F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2184	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.F2183F(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATGACACGGGAGAAATCACG	0.388000														165			13		0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26581740	26581740	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26581740C>T	uc001bls.1	+	3	418	c.287C>T	c.(286-288)cCt>cTt	p.P96L	CEP85_uc001blr.3_Missense_Mutation_p.P96L|CEP85_uc010ofa.1_Missense_Mutation_p.P45L	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	Homo sapiens centrosomal protein 85kDa (CEP85), mRNA.	96						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CATGTGATGCCTTCTACTTTA	0.498000														282			124		0	0	1	0	0
RBM39	9584	broad.mit.edu	37	20	34312576	34312576	+	Silent	SNP	G	A	A	rs151187023		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34312576G>A	uc002xeb.3	-	7	1012	c.603C>T	c.(601-603)ttC>ttT	p.F201F	RBM39_uc002xdz.3_Silent_p.F177F|RBM39_uc010gfn.3_Silent_p.F44F|RBM39_uc002xef.3_Silent_p.F44F|RBM39_uc010zvn.2_Silent_p.F44F|RBM39_uc002xec.3_Silent_p.F201F|RBM39_uc010zvm.2_Silent_p.F179F|RBM39_uc002xeg.3_Silent_p.F179F|RBM39_uc002xed.3_5'UTR|RBM39_uc002xee.3_Silent_p.F44F	NM_184234	NP_909122	Q14498	RBM39_HUMAN	Homo sapiens RNA binding motif protein 39 (RBM39), transcript variant 1, mRNA.	201	RRM 1.				RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nuclear speck	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TAACATCGACGAACTCCACAT	0.413000														83			42		0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13936915	13936915	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:13936915C>T	uc001avd.3	+	2	512	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	PDPN_uc001avc.3_Missense_Mutation_p.R155C|PDPN_uc009vob.3_Missense_Mutation_p.R37C|PDPN_uc009voc.3_Missense_Mutation_p.R37C|PDPN_uc001ave.3_Missense_Mutation_p.R37C|PDPN_uc001avf.3_Missense_Mutation_p.R37C	NM_006474	NP_001006625	Q86YL7	PDPN_HUMAN	Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.	79					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		AACAGGCATTCGCATCGAGGA	0.478000														93			36		0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109293228	109293228	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:109293228C>T	uc001tnr.4	+	9	1560	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	DAO_uc001tnq.4_Missense_Mutation_p.R231C|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	297					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						AGAACAGCTTCGCACTGGACC	0.498000														29			15		0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86198601	86198601	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:86198601G>A	uc001taf.1	-	1	1526	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	396					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGAGTAAAGGGAGGAATCTC	0.428000														122			17		0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27220706	27220706	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:27220706G>A	uc003nja.3	+	8	1143	c.1128G>A	c.(1126-1128)caG>caA	p.Q376Q	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Silent_p.Q119Q|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_Silent_p.Q153Q|PRSS16_uc010jqr.1_Silent_p.Q127Q|PRSS16_uc003njd.3_Intron	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	376					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGTTGTATCAGACATGTACCG	0.502000														125			58		0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9009324	9009324	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:9009324G>A	uc001apm.3	+	1	106	c.82G>A	c.(82-84)Ggg>Agg	p.G28R	CA6_uc021ofu.1_Non-coding_Transcript|CA6_uc009vmn.3_Intron	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	28					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCTTAGAAGGGGCACTGGA	0.642000														32			7		0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917519	48917519	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48917519G>A	uc002isv.4	+	1	1564	c.870G>A	c.(868-870)cgG>cgA	p.R290R	WFIKKN2_uc010dbu.3_Silent_p.R197R	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	290	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCACGGCCCGGAACGTGGCTG	0.622000														56			19		0	0	1	0	0
DYDC2	84332	broad.mit.edu	37	10	82126582	82126582	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:82126582C>T	uc001kca.1	+	4	789	c.409C>T	c.(409-411)Cct>Tct	p.P137S	DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Missense_Mutation_p.P137S	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Homo sapiens DPY30 domain containing 2 (DYDC2), mRNA.	137							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			TCAACAGGTTCCTCCTTCAGA	0.473000														126			52		0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56822682	56822682	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56822682G>A	uc001slf.2	-	10	1457	c.1289C>T	c.(1288-1290)gCc>gTc	p.A430V	TIMELESS_uc001slg.2_Missense_Mutation_p.A429V	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	430					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.A429D(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TGCCCAGGAGGCAGCTTCCTT	0.522000														44			29		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711077	140711077	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140711077G>A	uc003lji.2	+	0	826	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	PCDHGC5_uc011dan.2_Missense_Mutation_p.E276K	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	276	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)			AGCCAATGGGGAAGTAACGTA	0.438000														51			19		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120150415	120150415	+	Silent	SNP	G	A	A	rs147828404		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:120150415G>A	uc001txj.2	-	35	4721	c.4665C>T	c.(4663-4665)ctC>ctT	p.L1555L	CIT_uc001txh.2_Silent_p.L1032L|CIT_uc001txi.2_Silent_p.L1513L	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1513	PH.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGTATTTGCGAGTTCGGAAG	0.607000														73			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179413153	179413153	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179413153C>T	uc021vsy.1	-	287	85721	c.85496G>A	c.(85495-85497)aGt>aAt	p.S28499N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S22194N|TTN_uc021vta.1_Missense_Mutation_p.S22127N|TTN_uc021vtb.1_Missense_Mutation_p.S22002N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29426	Ig-like 132.						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)			GCATTTTTCACTGATAACCTG	0.483000														215			56		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114277282	114277283	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:114277282_114277283CC>TT	uc003ibe.4	+	37	7608_7609	c.7508_7509CC>TT	c.(7507-7509)gcc>gTT	p.A2503V	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.A2518V	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2470					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACGGAAGTGGCCTCTGTGCGGT	0.535000														108			24		0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75192536	75192536	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:75192536G>A	uc003uds.2	-	9	880	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L	HIP1_uc011kfz.2_Silent_p.L279L	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	279					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAGTACTGCAGGTTGCTGGAG	0.582000			T	PDGFRB	CMML									72			9		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142099585	142099585	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142099585G>A	uc003vyz.1	-	1	217	c.217C>T	c.(217-219)Caa>Taa	p.Q73*	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Nonsense_Mutation_p.Q73*					SubName: Full=Uncharacterized protein;																		TTGTCTAGTTGAGCTTCATTC	0.527000														61			17		0	0	1	0	0
IFT57	55081	broad.mit.edu	37	3	107937477	107937477	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:107937477A>G	uc021xcc.1	-	2	545	c.492T>C	c.(490-492)ccT>ccC	p.P164P	IFT57_uc003dwx.4_Silent_p.P133P	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas) (IFT57), mRNA.	133					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)			TTAATTTTGAAGGAGGAAAAT	0.328000														40			11		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36230669	36230669	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:36230669G>A	uc003gsq.2	-	1	778	c.440C>T	c.(439-441)tCt>tTt	p.S147F	ARAP2_uc003gsr.1_Missense_Mutation_p.S147F	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	147					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						TTTAGGAGGAGACAGCTTATC	0.413000														62			26		0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70281924	70281924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:70281924C>T	uc001vip.3	-	9	2814	c.2020G>A	c.(2020-2022)Gat>Aat	p.D674N	KLHL1_uc010thm.2_Missense_Mutation_p.D613N	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	674					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTTTTGGGATCATATCTAAAA	0.368000														51			13		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28539966	28539966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28539966C>T	uc003nlo.3	-	3	4318	c.3700G>A	c.(3700-3702)Gaa>Aaa	p.E1234K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1234					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.D1233V(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttcaatccttcgtcggtagcc	0.328000														50			19		0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56057844	56057844	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56057844C>T	uc010rje.2	-	0	695	c.695G>A	c.(694-696)gGa>gAa	p.G232E		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G232G(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTTCTGCTTTCCTGAAGTGGA	0.383000														100			48		0	0	1	0	0
AMY2A	279	broad.mit.edu	37	1	104160591	104160591	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:104160591G>A	uc001dut.3	+	1	248	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	AMY2A_uc010ouq.1_Missense_Mutation_p.E62K	NM_000699	NP_000690	P04746	AMYP_HUMAN	Homo sapiens amylase, alpha 2A (pancreatic) (AMY2A), mRNA.	62					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	TCCACCAAATGAAAATGTTGC	0.328000														170			39		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124437990	124437990	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124437990C>T	uc003ehg.3	+	59	8761	c.8634C>T	c.(8632-8634)tcC>tcT	p.S2878S	KALRN_uc003ehk.3_Silent_p.S1181S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2877	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTGGGGTCTCCCCCTTCTTGG	0.527000														35			21		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46967040	46967040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:46967040C>T	uc003gxg.3	-	7	2064	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	GABRA4_uc021xnz.1_Missense_Mutation_p.E342K|GABRA4_uc021xoa.1_Missense_Mutation_p.E291K	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	361					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			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCGGGAACTTCCTGAGGGGGC	0.443000														62			34		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60696263	60696263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60696263C>T	uc001nqi.3	+	3	890	c.697C>T	c.(697-699)Cca>Tca	p.P233S	TMEM132A_uc001nqj.3_Missense_Mutation_p.P233S|TMEM132A_uc001nqk.3_Missense_Mutation_p.P246S|TMEM132A_uc001nql.1_Missense_Mutation_p.P246S	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	233						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCAGGCCCTCCCAGTGGGGGG	0.701000														22			11		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219299355	219299356	+	Missense_Mutation	DNP	GG	AA	AA	rs143261714	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219299355_219299356GG>AA	uc002vib.3	+	12	1629_1630	c.1607_1608GG>AA	c.(1606-1608)cgg>cAA	p.R536Q	VIL1_uc010zke.2_Missense_Mutation_p.R225Q|VIL1_uc002via.3_Missense_Mutation_p.R536Q	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	536	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCCCAGCGCGGGCCAATTTCC	0.564000														90			31		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143104761	143104761	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143104761C>T	uc003wcz.3	-	1	180	c.93G>A	c.(91-93)atG>atA	p.M31I	LOC285965_uc003wda.3_5'Flank	NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	31						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TGCTTGTGTCCATCAGAGTAA	0.562000														192			77		0	0	1	0	0
DOC2A	8448	broad.mit.edu	37	16	30020383	30020383	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30020383G>A	uc002dvn.3	-	4	652	c.461C>T	c.(460-462)cCc>cTc	p.P154L	BOLA2_uc010bzb.1_Intron|DOC2A_uc010vef.2_Non-coding_Transcript|DOC2A_uc002dvo.3_Missense_Mutation_p.P154L|DOC2A_uc002dvp.3_Missense_Mutation_p.P154L|DOC2A_uc002dvq.3_Missense_Mutation_p.P154L	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	Homo sapiens double C2-like domains, alpha (DOC2A), mRNA.	154	C2 1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						ATTCCACACGGGATTCAGTGT	0.567000														51			8		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160977153	160977153	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:160977153C>T	uc003qtl.3	-	30	4997	c.4877G>A	c.(4876-4878)gGc>gAc	p.G1626D		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4134	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGAGAATGTGCCTCGATAACT	0.483000														149			27		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105803263	105803263	+	Silent	SNP	G	A	A	rs148868816		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105803263G>A	uc001kxr.3	-	34	2680	c.2511C>T	c.(2509-2511)gcC>gcT	p.A837A		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	837	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACTGACCTGGGGCACCTGGAG	0.557000														29			14		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23810624	23810624	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:23810624G>A	uc003sws.4	+	14	1781	c.1714_splice	c.e14-1	p.D572_splice	STK31_uc003swt.4_Splice_Site_p.D549_splice|STK31_uc011jze.2_Splice_Site_p.D572_splice|STK31_uc010kuq.3_Splice_Site_p.D549_splice	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	572							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTCATTTAGGATCAAGGTGA	0.338000														88			41		0	0	1	0	0
TMEM45B	120224	broad.mit.edu	37	11	129722454	129722454	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:129722454C>T	uc001qfe.1	+	1	138	c.77C>T	c.(76-78)cCg>cTg	p.P26L	TMEM45B_uc001qff.1_Missense_Mutation_p.P26L	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	Homo sapiens transmembrane protein 45B (TMEM45B), mRNA.	26						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GTGAAGTACCCGCTGAAGTAC	0.493000														105			13		0	0	1	0	0
AP5B1	91056	broad.mit.edu	37	11	65545600	65545600	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65545600G>A	uc001ofo.4	-	0	2223	c.2193C>T	c.(2191-2193)tcC>tcT	p.S731S		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	Homo sapiens adaptor protein 5 (DKFZp761E198), mRNA.	731							protein binding			lung(1)	1						CTGGCAGGCAGGAATCCCAGA	0.632000														88			38		0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15547702	15547702	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15547702G>A	uc002nbb.4	-	2	658	c.444C>T	c.(442-444)ttC>ttT	p.F148F		NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	984						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GGGAGGTCAGGAAGCTGCCAG	0.682000														29			7		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189875434	189875434	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189875434C>T	uc002uqj.1	+	49	4189	c.4072C>T	c.(4072-4074)Cga>Tga	p.R1358*		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1358	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGCATTCCTTCGACTTCTCTC	0.428000														115			26		0	0	1	0	0
MIR31HG	554202	broad.mit.edu	37	9	21455665	21455665	+	RNA	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21455665C>A	uc003zpe.2	-	3		c.750G>T								Homo sapiens MIR31 host gene (non-protein coding) (MIR31HG), non-coding RNA.																		ACTTCAGATTCCCCCAGGAGA	0.502000														14			10		7.48243e-07	7.49908e-07	1	1	0
COL4A2	1284	broad.mit.edu	37	13	111156291	111156291	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:111156291C>T	uc001vqx.3	+	43	4525	c.4236C>T	c.(4234-4236)ccC>ccT	p.P1412P		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1412	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCGAGGCCCCCCTGGGGCAC	0.736000														55			5		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38704876	38704876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38704876G>A	uc021yzh.1	+	5	905	c.796G>A	c.(796-798)Gga>Aga	p.G266R	DNAH8_uc003ooe.2_Missense_Mutation_p.G49R	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCGTCGAAAGGACTCTTAAA	0.398000														92			31		0	0	1	0	0
CCDC113	29070	broad.mit.edu	37	16	58312481	58312481	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:58312481C>T	uc002ene.3	+	7	1066	c.987C>T	c.(985-987)atC>atT	p.I329I	CCDC113_uc010vid.2_Silent_p.I275I	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA.	329						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GGGAGAAGATCTTAAATGCGG	0.572000														45			19		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17010355	17010355	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17010355G>A	uc002nfb.3	-	36	4952	c.4920C>T	c.(4918-4920)ctC>ctT	p.L1640L	CPAMD8_uc010xpj.1_5'Flank|CPAMD8_uc002nfd.1_Silent_p.L105L	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1593						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCTTGTCAAGGAGCAGCTGCA	0.577000														42			15		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7416873	7416873	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7416873C>T	uc002ghf.4	+	28	5676	c.5290C>T	c.(5290-5292)Ccg>Tcg	p.P1764S		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1764	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CAGCTACAGCCCGACATCACC	0.542000														205			121		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117968808	117968808	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117968808C>T	uc001two.2	-	11	1708	c.1653G>A	c.(1651-1653)ccG>ccA	p.P551P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	580					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTCCGGCACCGGCACCACAT	0.552000														119			48		0	0	1	0	0
CGA	1081	broad.mit.edu	37	6	87796037	87796037	+	Silent	SNP	C	T	T	rs142907318		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:87796037C>T	uc003plj.2	-	2	346	c.204G>A	c.(202-204)aaG>aaA	p.K68K	CGA_uc021zci.1_Silent_p.K99K	NM_000735	NP_000726	P01215	GLHA_HUMAN	Homo sapiens glycoprotein hormones, alpha polypeptide (CGA), transcript variant 2, mRNA.	68					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		ACATCGTCTTCTTGGACCTTA	0.493000														126			51		0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59323895	59323895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:59323895C>T	uc002afv.3	+	1	1153	c.874C>T	c.(874-876)Ccc>Tcc	p.P292S	RNF111_uc002afs.3_Missense_Mutation_p.P292S|RNF111_uc002aft.3_Missense_Mutation_p.P292S|RNF111_uc002afu.3_Missense_Mutation_p.P292S|RNF111_uc002afw.3_Missense_Mutation_p.P292S	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	292	Interaction with AXIN1.|Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TCCAGCTGTTCCCTCAGGTAA	0.368000														92			37		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13700828	13700828	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13700828C>T	uc003jfd.2	-	77	13686	c.13644G>A	c.(13642-13644)agG>agA	p.R4548R	DNAH5_uc003jfc.2_Silent_p.R716R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4548					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)					GTTTCATGTTCCTCTTGTCCC	0.423000									Kartagener syndrome					186			84		0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81599243	81599243	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:81599243C>T	uc003uhr.1	-	27	2518	c.2262G>A	c.(2260-2262)agG>agA	p.R754R	CACNA2D1_uc011kgy.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	766						voltage-gated calcium channel complex	metal ion binding	p.R754T(1)		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)	TATCTAGGCTCCTTTTATAGA	0.338000														81			21		0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170068224	170068224	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:170068224G>A	uc003qwx.3	-	4	1034	c.514C>T	c.(514-516)Cca>Tca	p.P172S	WDR27_uc021zio.1_Missense_Mutation_p.P172S|WDR27_uc003qwy.3_Intron|WDR27_uc011egw.1_Intron	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN	Homo sapiens WD repeat domain 27 (WDR27), transcript variant 1, mRNA.	152										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GTCGGTGGTGGGACTTTGTGG	0.517000														29			22		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234873392	234873392	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234873392C>T	uc002vvh.3	+	13	1910	c.1870C>T	c.(1870-1872)Cgg>Tgg	p.R624W	TRPM8_uc010fyj.3_Missense_Mutation_p.R312W	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	624						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GTACGAGACCCGGGCTGTTGG	0.582000														72			20		0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3129117	3129117	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3129117G>A	uc021vzx.1	-	0	600	c.600C>T	c.(598-600)ctC>ctT	p.L200L	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Silent_p.L200L	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	200					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GGGTATCAAAGAGCTGTATCT	0.463000														109			27		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164584	139164584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:139164584C>T	uc003yuy.3	-	12	2305	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	FAM135B_uc003yux.3_Missense_Mutation_p.E613K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E274K|FAM135B_uc003yvb.3_Missense_Mutation_p.E274K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	712										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)			TGCAAGACTTCCCGATCACTG	0.552000										HNSCC(54;0.14)				27			9		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54922002	54922002	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:54922002C>T	uc003dhf.3	+	23	2121	c.2073C>T	c.(2071-2073)atC>atT	p.I691I	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.I597I|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	691						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AAGAATTGATCCAAGAAGTCC	0.532000														62			40		0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44250212	44250212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:44250212C>T	uc003oxi.2	-	3	1087	c.931G>A	c.(931-933)Gag>Aag	p.E311K	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	311										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAGTCCAGCTCCTCGAGGACT	0.567000														96			8		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657680	46657680	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:46657680C>T	uc003bhh.3	-	0	1540	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	514	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCATTCCTTCCTGTTACAGTT	0.388000														217			89		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48269424	48269424	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48269424C>T	uc003toq.2	+	6	659	c.635C>T	c.(634-636)tCc>tTc	p.S212F	ABCA13_uc003top.2_3'UTR|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	212					transport	integral to membrane	ATP binding|ATPase activity	p.V211V(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGTTCTAGTTCCTTAATATCC	0.388000														185			76		0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758568	5758568	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5758568G>A	uc001mbt.2	+	0	891	c.822G>A	c.(820-822)gaG>gaA	p.E274E	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		ATCTGACAGAGATGAAGGCTA	0.433000														348			83		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130286970	130286970	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130286970G>A	uc010htl.3	+	4	1954	c.1923G>A	c.(1921-1923)atG>atA	p.M641I		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	641	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCAGCAAAATGAAAACATTTA	0.413000														79			47		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201182696	201182696	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201182696G>A	uc001gwc.3	+	11	8805	c.8675G>A	c.(8674-8676)aGt>aAt	p.S2892N	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						GCTACCCGGAGTTCCACATCC	0.572000														68			22		0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33235498	33235498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:33235498G>A	uc001bvu.1	+	5	762	c.718G>A	c.(718-720)Gag>Aag	p.E240K	KIAA1522_uc010ohm.1_Missense_Mutation_p.E192K|KIAA1522_uc001bvv.2_Missense_Mutation_p.E181K|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	181										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GAATGAGCGTGAGGCACCAGG	0.701000														25			8		0	0	1	0	0
CSTF2T	23283	broad.mit.edu	37	10	53459007	53459007	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:53459007T>A	uc001jjp.3	-	0	349	c.303A>T	c.(301-303)ttA>ttT	p.L101F	PRKG1_uc001jjm.3_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.3_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant (CSTF2T), mRNA.	101					mRNA processing	nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CAAGGCTCTTTAACTCCTCCT	0.552000														143			67		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169586315	169586315	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169586315C>T	uc001ggi.4	-	2	497	c.432G>A	c.(430-432)aaG>aaA	p.K144K	SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Silent_p.K144K	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	144	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CATCATTCCACTTGCCAGGGG	0.453000														145			49		0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48716111	48716111	+	Silent	SNP	G	A	A	rs34283811		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48716111G>A	uc003cun.3	-	11	1945	c.1851C>T	c.(1849-1851)ttC>ttT	p.F617F	NCKIPSD_uc003cum.3_Silent_p.F610F	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	617					NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGTCCTGCAGGAACTTGAGGA	0.572000														93			49		0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157805786	157805787	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157805786_157805787CC>TT	uc001frk.4	-	2	357_358	c.214_215GG>AA	c.(214-216)gga>AAa	p.G72K		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	72	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACTAGGGGTTCCGCTGGCAGCT	0.545000														249			28		0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31878790	31878790	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31878790C>T	uc002wyw.1	+	4	554	c.393C>T	c.(391-393)ttC>ttT	p.F131F	BPIFB1_uc010gej.1_Silent_p.F131F	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	131						extracellular space	lipid binding										TCGTGGAGTTCCACATGACGA	0.647000														33			7		0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68688074	68688074	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:68688074C>T	uc003hdq.3	-	9	1303	c.1238G>A	c.(1237-1239)aGg>aAg	p.R413K	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc003hdp.3_Missense_Mutation_p.R194K|TMPRSS11D_uc011caj.2_Missense_Mutation_p.R296K	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	413	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGTTTGTTGCCTAATCCAGTC	0.463000														214			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049948	9049948	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9049948G>A	uc002mkp.3	-	4	31887	c.31683C>T	c.(31681-31683)ttC>ttT	p.F10561F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10563	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						ATTCTCTATTGAAAACAGATG	0.483000														116			50		0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142435638	142435638	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:142435638C>T	uc011dbj.2	+	15	1454	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	ARHGAP26_uc003lmt.3_Silent_p.F473F|ARHGAP26_uc003lmw.3_Silent_p.F473F	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	473	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGAAGTTTCATCAAAGCAG	0.343000														135			12		0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91657096	91657096	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:91657096G>A	uc004aqf.2	-	9	1512	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	402	CH1.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GATGTCCGAGGACCCTGCAAC	0.547000														114			26		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29416472	29416472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29416472C>T	uc002rmy.3	-	28	5433	c.4481G>A	c.(4480-4482)gGa>gAa	p.G1494E	ALK_uc010ymo.2_Missense_Mutation_p.G426E	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1494					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTTTCTGGATCCGTGGACCTT	0.527000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					129			32		0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104190698	104190698	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:104190698G>A	uc010swe.1	-	5	768	c.727C>T	c.(727-729)Cct>Tct	p.P243S		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	243							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						AGATGCACAGGCTCATAGTCG	0.468000														134			26		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22157999	22157999	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22157999G>A	uc009vqd.3	-	82	11452	c.11412C>T	c.(11410-11412)gaC>gaT	p.D3804D	HSPG2_uc001bfi.3_5'Flank|HSPG2_uc001bfj.3_Silent_p.D3803D	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3803	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGGCACCATAGTCAGGATAGC	0.627000														66			14		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3087637	3087637	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:3087637G>A	uc022aqr.1	-	26	4660	c.4270C>T	c.(4270-4272)Caa>Taa	p.Q1424*	CSMD1_uc011kwj.2_Nonsense_Mutation_p.Q817*|CSMD1_uc003wqe.3_Nonsense_Mutation_p.Q581*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1425	Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTTGTCCTTGGAGCTGATAG	0.502000														31			12		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129279547	129279547	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:129279547C>T	uc003emx.2	-	29	5113	c.5013G>A	c.(5011-5013)gaG>gaA	p.E1671E	PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Silent_p.E339E	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1671					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGAAATACTTCTCTGTGTCCA	0.512000														65			26		0	0	1	0	0
LAX1	54900	broad.mit.edu	37	1	203743176	203743176	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203743176G>A	uc001haa.3	+	4	974	c.564G>A	c.(562-564)gaG>gaA	p.E188E	LAX1_uc010pql.2_Silent_p.E172E|LAX1_uc001hab.3_Silent_p.E112E	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	Homo sapiens lymphocyte transmembrane adaptor 1 (LAX1), transcript variant 1, mRNA.	188					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	SH2 domain binding|protein kinase binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTTCTTCAGAGGATTCGCATG	0.493000														79			36		0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210001478	210001478	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:210001478C>T	uc001hhr.2	+	0	167	c.70C>T	c.(70-72)Ctt>Ttt	p.L24F	DIEXF_uc009xcu.2_5'UTR	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA.	24					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GAAGAAACATCTTCGAGATTT	0.547000											OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			36		0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74104714	74104714	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:74104714G>A	uc003pgw.3	+	0	430	c.86G>A	c.(85-87)aGg>aAg	p.R29K	OOEP_uc003pgv.4_5'UTR|DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	29						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.R29S(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GCGCCAGAGAGGAGGCCGGCG	0.642000														84			13		0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29080233	29080233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29080233G>A	uc011dll.2	+	0	566	c.566G>A	c.(565-567)cGa>cAa	p.R189Q		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L188V(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GCACTTCTGCGATTATCGTGT	0.448000														72			24		0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676172	123676172	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123676172C>T	uc010rzz.2	-	0	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CTCAACACTTCCTGTACCTTC	0.408000														124			38		0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53702957	53702957	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53702957G>A	uc001scr.4	-	8	1082	c.919C>T	c.(919-921)Cct>Tct	p.P307S	AAAS_uc001scs.4_Missense_Mutation_p.P274S	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	307					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						ACAGCTGAAGGAGTGGTAGCC	0.582000														159			76		0	0	1	0	0
RBM14	10432	broad.mit.edu	37	11	66392364	66392364	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66392364C>T	uc001oit.3	+	1	1156	c.1017C>T	c.(1015-1017)gcC>gcT	p.A339A	RBM14_uc009yri.3_Intron|RBM14_uc009yrh.3_Intron|RBM14_uc009yrj.3_Intron|RBM14_uc009yrk.3_Intron|RBM14_uc021qmb.1_Intron|RBM14_uc021qmc.1_Splice_Site	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 14 (RBM14), transcript variant 1, mRNA.	339	Ala-rich.|TRBP-interacting domain.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	RNA binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCTCCCTTGCCTCCTATGGTA	0.612000														90			36		0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24581994	24581994	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:24581994C>T	uc002zzn.1	+	8	1394	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	450	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						CCTCCGCCTTCGGAGACCCAC	0.652000														24			12		0	0	1	0	0
TOB2	10766	broad.mit.edu	37	22	41833288	41833288	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:41833288G>A	uc003azz.1	-	1	769	c.62C>T	c.(61-63)cCc>cTc	p.P21L	TOB2_uc021wqf.1_Missense_Mutation_p.P21L	NM_016272	NP_057356	Q14106	TOB2_HUMAN	Homo sapiens transducer of ERBB2, 2 (TOB2), mRNA.	21					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CCGGCGCCGGGGCAGCTTGTT	0.537000														53			34		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98144361	98144361	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98144361C>T	uc001kml.2	-	15	2418	c.2177G>A	c.(2176-2178)aGg>aAg	p.R726K		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	726	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GAAGTGGGCCCTGAAGCCGCG	0.627000														102			43		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64606904	64606904	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:64606904C>T	uc003dmg.3	-	18	2731	c.2699G>A	c.(2698-2700)cGa>cAa	p.R900Q	ADAMTS9_uc011bfo.2_Missense_Mutation_p.R872Q|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R729Q|ADAMTS9_uc003dmk.1_Missense_Mutation_p.R900Q	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	900	TSP type-1 2.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R900*(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AACAAGTTTTCGTTTCCGTTC	0.423000														26			12		0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21327590	21327590	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21327590C>T	uc001req.4	+	3	410	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	102					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TCGGTTGTTTCATTATGGGAA	0.343000														70			14		0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25769328	25769328	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:25769328C>T	uc003nfe.3	+	2	326	c.207C>T	c.(205-207)gcC>gcT	p.A69A	SLC17A4_uc011djx.2_Silent_p.A69A|SLC17A4_uc003nff.1_Silent_p.A6A|SLC17A4_uc003nfg.3_Silent_p.A6A	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	69					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACAACACAGCCCCACCTAGCC	0.468000														80			27		0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119623257	119623257	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:119623257C>T	uc003pym.1	-	3	1154	c.712G>A	c.(712-714)Gga>Aga	p.G238R	MAN1A1_uc010kei.2_Missense_Mutation_p.G261R	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	238					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ATAGTTGCTCCTTTGATGTTA	0.289000														15			7		0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88723893	88723893	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:88723893G>A	uc002flg.1	-	3	361	c.354C>T	c.(352-354)ttC>ttT	p.F118F	MVD_uc002flf.1_5'Flank	NM_002461	NP_002452	P53602	MVD1_HUMAN	Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA.	118					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|Hsp70 protein binding|diphosphomevalonate decarboxylase activity|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CAGCCGTGGGGAAGTTGTTCA	0.701000														13			6		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924276	70924276	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70924276G>A	uc021rvq.1	+	0	60	c.60G>A	c.(58-60)ggG>ggA	p.G20G	ADAM21_uc001xmd.3_Silent_p.G20G	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	20					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCTGGCTTGGGGTATTTTTGT	0.537000														106			47		0	0	1	0	0
TSPAN32	10077	broad.mit.edu	37	11	2335756	2335756	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:2335756G>A	uc001lvy.1	+	5	635	c.498G>A	c.(496-498)ggG>ggA	p.G166G	TSPAN32_uc001lvx.1_Missense_Mutation_p.E210K|TSPAN32_uc009ydk.1_Silent_p.G176G|TSPAN32_uc010qxk.2_Silent_p.G201G|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Silent_p.G136G|TSPAN32_uc001lwb.1_Silent_p.G136G|TSPAN32_uc001lwc.1_Silent_p.G111G|TSPAN32_uc001lwd.1_5'Flank	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	Homo sapiens tetraspanin 32 (TSPAN32), mRNA.	166					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GCCGTCTGGGGAGCACAGAGG	0.642000														13			9		0	0	1	0	0
GLT25D2	23127	broad.mit.edu	37	1	183913377	183913377	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:183913377C>T	uc001gqr.3	-	9	1722	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	GLT25D2_uc010poj.1_Missense_Mutation_p.M450I|GLT25D2_uc001gqp.3_Missense_Mutation_p.M58I|GLT25D2_uc001gqq.3_Missense_Mutation_p.M187I|GLT25D2_uc001gqs.3_Missense_Mutation_p.M330I	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	450					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						CCATCAGCTTCATCAGCTTCT	0.453000														85			27		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27681043	27681043	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27681043G>A	uc002rku.3	-	26	2976	c.2925C>T	c.(2923-2925)atC>atT	p.I975I		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	975					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GGGCCTGAGTGATGTATAGCA	0.552000														121			11		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344463	56344463	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56344463C>T	uc001niz.1	-	0	735	c.735G>A	c.(733-735)ctG>ctA	p.L245L	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TGACTATTGTCAGGTGGGAAG	0.428000														137			13		0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469290	72469290	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:72469290C>T	uc010izc.3	+	0	268	c.220C>T	c.(220-222)Ctt>Ttt	p.L74F		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	74						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GACCCAGCTCCTTGGGCCCGT	0.512000														105			11		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23203759	23203759	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23203759G>A	uc002dlm.1	+	3	844	c.705G>A	c.(703-705)atG>atA	p.M235I		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	235					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TACACTACATGAACATCATGG	0.488000														91			11		0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102607113	102607113	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:102607113C>T	uc022bky.1	+	6	2238	c.1470C>T	c.(1468-1470)gtC>gtT	p.V490V	NR4A3_uc004baf.1_Silent_p.V479V	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	479	Ligand-binding (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AGCTGTTTGTCCTCAGACTTT	0.393000			T	EWSR1	extraskeletal myxoid chondrosarcoma									36			16		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34014926	34014926	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34014926G>A	uc001zhi.3	+	43	6700	c.6630G>A	c.(6628-6630)gtG>gtA	p.V2210V	RYR3_uc010bar.3_Silent_p.V2210V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2210	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGAGAGTGTGGAAGAAAACG	0.542000														104			40		0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13214675	13214675	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:13214675C>T	uc001ima.3	+	4	633	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	MCM10_uc001imb.3_Nonsense_Mutation_p.Q168*|MCM10_uc001imc.3_Nonsense_Mutation_p.Q168*	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	169					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TCAGAGAATTCAGGAGTCAAC	0.468000														108			8		0	0	1	0	0
CACNG1	786	broad.mit.edu	37	17	65040977	65040977	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:65040977G>A	uc002jfu.3	+	0	326	c.201G>A	c.(199-201)aaG>aaA	p.K67K		NM_000727	NP_000718	Q06432	CCG1_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 1 (CACNG1), mRNA.	67					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	ACGACAGCAAGACCTGCGGGC	0.652000														26			10		0	0	1	0	0
IL1RN	3557	broad.mit.edu	37	2	113890408	113890408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113890408G>A	uc002tjb.3	+	3	558	c.494G>A	c.(493-495)gGc>gAc	p.G165D	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Missense_Mutation_p.G168D|IL1RN_uc002tiy.3_Missense_Mutation_p.G131D|IL1RN_uc002tja.3_Missense_Mutation_p.G147D	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	165					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	CCTGACGAAGGCGTCATGGTC	0.587000									Lichen Sclerosis et Atrophicus, Familial Clustering of					113			24		0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67314090	67314090	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67314090C>T	uc010cef.3	+	1	442	c.143C>T	c.(142-144)cCt>cTt	p.P48L	PLEKHG4_uc002eso.4_Missense_Mutation_p.P48L|PLEKHG4_uc002esp.4_5'UTR|PLEKHG4_uc002esq.4_Missense_Mutation_p.P48L|PLEKHG4_uc002esr.1_Intron|PLEKHG4_uc002ess.4_Missense_Mutation_p.P48L|PLEKHG4_uc010ceg.3_Missense_Mutation_p.P48L	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	48					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GACCCAGGTCCTCCAAGACCA	0.602000														61			8		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124743205	124743205	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124743205G>A	uc001qbc.3	+	10	1706	c.1537_splice	c.e10-1	p.E513_splice		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	513	Ig-like C2-type 5.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTCTCTTCCAGGAGATGGACA	0.552000														10			9		0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35551632	35551633	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35551632_35551633GG>AA	uc002nxq.2	+	9	967_968	c.722_723GG>AA	c.(721-723)ggg>gAA	p.G241E	HPN_uc002nxr.2_Missense_Mutation_p.G241E|HPN_uc010xsh.1_Missense_Mutation_p.G210E|HPN_uc002nxt.1_Missense_Mutation_p.G125E|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	241	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GTCTACCACGGGGGCTATCTTC	0.644000														75			25		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103142759	103142759	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103142759G>A	uc002tbz.4	+	10	2449	c.1992G>A	c.(1990-1992)ggG>ggA	p.G664G		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	664					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.G664W(1)		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						ACCCCTACGGGAATCCTCAGT	0.502000														92			38		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072414	9072414	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9072414G>A	uc002mkp.3	-	2	15236	c.15032C>T	c.(15031-15033)tCa>tTa	p.S5011L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5013	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						ATCCAATTGTGAAAATCCATG	0.483000														71			9		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203691724	203691724	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203691724C>G	uc001gzw.3	+	17	3828	c.2931C>G	c.(2929-2931)aaC>aaG	p.N977K	ATP2B4_uc001gzv.3_Missense_Mutation_p.N977K|ATP2B4_uc009xaq.3_Missense_Mutation_p.N977K|ATP2B4_uc001gzx.3_Missense_Mutation_p.N8K|ATP2B4_uc009xar.3_Missense_Mutation_p.N8K	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	977					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGAAATCAACTCCCGAAAGA	0.463000														90			22		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128477498	128477498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:128477498G>A	uc002tpg.2	-	15	2300	c.2101C>T	c.(2101-2103)Cct>Tct	p.P701S		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	701	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGACCTTGAGGACCAGAACTA	0.642000														81			15		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725888	140725888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140725888C>T	uc003ljm.2	+	0	2288	c.2288C>T	c.(2287-2289)tCg>tTg	p.S763L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.S763L	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	768					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)			ACTGCGGACTCGCGGAAGAGC	0.612000														206			39		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411082	126411082	+	Missense_Mutation	SNP	A	T	T	rs139260545	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126411082A>T	uc003ifj.4	+	16	13105	c.13105A>T	c.(13105-13107)Atg>Ttg	p.M4369L	FAT4_uc011cgp.2_Missense_Mutation_p.M2610L|FAT4_uc003ifi.1_Missense_Mutation_p.M1846L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4369	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATTGCTTCTATGTGGTATGG	0.438000														172			65		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067464	9067464	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9067464C>T	uc002mkp.3	-	2	20186	c.19982G>A	c.(19981-19983)gGa>gAa	p.G6661E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6663	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						GGTGCTGGTTCCCTTCAGCCC	0.512000														63			27		0	0	1	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047502	46047502	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46047502G>A	uc002zfp.4	+	0	463	c.414G>A	c.(412-414)ccG>ccA	p.P138P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	138	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						cctgccagccggcctgctgtg	0.612000														251			35		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124756633	124756633	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124756633C>T	uc001qbg.3	-	15	2661	c.2521G>A	c.(2521-2523)Gac>Aac	p.D841N	ROBO4_uc010sas.2_Missense_Mutation_p.D696N|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.3_Missense_Mutation_p.D399N	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	841					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTGCCCATGTCCGTGAACTCT	0.652000														41			13		0	0	1	0	0
RAB4B	53916	broad.mit.edu	37	19	41292841	41292841	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41292841C>T	uc002opd.2	+	6	772	c.615C>T	c.(613-615)gcC>gcT	p.A205A	RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002ope.2_Non-coding_Transcript|EGLN2_uc010ehd.3_5'UTR|RAB4B_uc002opf.2_Silent_p.A231A	NM_016154	NP_057238	P61018	RAB4B_HUMAN	Homo sapiens RAB4B, member RAS oncogene family (RAB4B), mRNA.	205					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity	p.A240A(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GTGCCCAGGCCGTGGCCCCTC	0.682000														52			5		0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68686806	68686806	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:68686806G>A	uc001jmz.1	+	1	682	c.132G>A	c.(130-132)atG>atA	p.M44I	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Missense_Mutation_p.M44I	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	44	LRRNT.					integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AAGGCAAAATGGTATATTGTG	0.443000														53			24		0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233898898	233898898	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233898898G>A	uc010zmn.2	+	1	274	c.274G>A	c.(274-276)Gac>Aac	p.D92N		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	92							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CCCCTTGTATGACGCGCAGAC	0.617000														95			56		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77662013	77662013	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77662013G>A	uc011cbx.2	+	4	3640	c.2687G>A	c.(2686-2688)aGc>aAc	p.S896N	SHROOM3_uc011cbz.1_Missense_Mutation_p.S720N|SHROOM3_uc003hkf.1_Missense_Mutation_p.S771N|SHROOM3_uc003hkg.3_Missense_Mutation_p.S674N	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	896					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAGCTCTCCAGCGAGCCAGAG	0.711000														19			10		0	0	1	0	0
JDP2	122953	broad.mit.edu	37	14	75928233	75928233	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75928233G>A	uc001xrq.3	+	3	532	c.339_splice	c.e3+1	p.R113_splice	JDP2_uc010asj.3_Splice_Site_p.R102_splice|JDP2_uc010tvb.2_Splice_Site_p.R102_splice|JDP2_uc010tvc.2_Splice_Site_p.R102_splice	NM_001135049	NP_569736	Q8WYK2	JDP2_HUMAN	Homo sapiens Jun dimerization protein 2 (JDP2), transcript variant 4, mRNA.	102	Leucine-zipper.					nucleus	sequence-specific DNA binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)		TTCTGCAGCGGGTGAGCTGAC	0.582000														12			3		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135205499	135205499	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135205499G>A	uc004cbk.3	-	9	1669	c.1486C>T	c.(1486-1488)Cct>Tct	p.P496S	SETX_uc004cbj.3_Missense_Mutation_p.P115S|SETX_uc010mzt.3_Missense_Mutation_p.P115S	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	496					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCAGTGGTAGGAAGCTTGGCA	0.428000														91			19		0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28328886	28328886	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:28328886G>A	uc002dpd.3	+	1	963	c.174G>A	c.(172-174)gaG>gaA	p.E58E		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	58	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						TAGTCCGGGAGCTGGGCAAAG	0.627000											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		55			13		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58711073	58711073	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58711073G>A	uc001nnh.2	+	1	132	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	GLYATL1_uc001nnf.3_5'UTR|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_5'UTR|GLYATL1_uc001nnj.2_5'UTR	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	0						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	agcgcgaagtgaacacggaag	0.453000														39			9		0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79498730	79498730	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:79498730G>A	uc011ctj.2	-	1	327	c.170C>T	c.(169-171)aCc>aTc	p.T57I	SERINC5_uc003kgj.3_Missense_Mutation_p.T57I|SERINC5_uc003kgm.3_Missense_Mutation_p.T57I|SERINC5_uc003kgk.3_Missense_Mutation_p.T57I|SERINC5_uc003kgl.3_Non-coding_Transcript	NM_001174072	NP_001167543	Q86VE9	SERC5_HUMAN	Homo sapiens serine incorporator 5 (SERINC5), transcript variant 1, mRNA.	57					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane		p.T56T(1)		endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GTGAGCCACGGTTGTTGACAT	0.502000														24			10		0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172634851	172634851	+	Missense_Mutation	SNP	C	T	T	rs80358236		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:172634851C>T	uc001gis.3	+	3	698	c.541C>T	c.(541-543)Ctt>Ttt	p.L181F	FASLG_uc001git.3_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	181					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GAAGGGTGGCCTTGTGATCAA	0.458000														95			14		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130187704	130187704	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130187704C>T	uc010htj.1	+	37	7350	c.6856C>T	c.(6856-6858)Caa>Taa	p.Q2286*	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Nonsense_Mutation_p.Q325*|COL6A5_uc010htk.1_Nonsense_Mutation_p.Q325*	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2286	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGTCTCTCTTCAAGAATATTA	0.363000														23			10		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1023983	1023983	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1023983C>T	uc001lsw.2	-	24	3397	c.3346G>A	c.(3346-3348)Ggt>Agt	p.G1116S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1116					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGCACACACCCTTGTCCAGA	0.682000														27			12		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207640181	207640181	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207640181C>T	uc001hfw.3	+	1	488	c.369C>T	c.(367-369)tcC>tcT	p.S123S	CR2_uc001hfv.3_Silent_p.S123S|CR2_uc009xch.3_Silent_p.S123S	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	123	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CCAACTTCTCCATGAACGGAA	0.458000														77			36		0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41148164	41148164	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:41148164G>A	uc001zna.3	+	8	1444	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	SPINT1_uc001znb.3_Missense_Mutation_p.E398K|SPINT1_uc001znc.3_Missense_Mutation_p.E398K|SPINT1_uc010ucs.2_Missense_Mutation_p.E405K	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	414	BPTI/Kunitz inhibitor 2.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CCCCTTCAGCGAACACTGCGC	0.577000														72			113		0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54159224	54159224	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:54159224G>A	uc004dsz.4	-	8	2046	c.1963C>T	c.(1963-1965)Cgg>Tgg	p.R655W	FAM120C_uc011moh.2_Missense_Mutation_p.R655W	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	655										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						CGAGCTGACCGGAATAAGAGA	0.488000														13			9		0	0	1	0	0
BBS2	583	broad.mit.edu	37	16	56519580	56519580	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:56519580G>A	uc002ejd.2	-	15	2215	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C		NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Homo sapiens Bardet-Biedl syndrome 2 (BBS2), mRNA.	661					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TTGTTACAGCGAATTTTATAT	0.378000									Bardet-Biedl syndrome					209			24		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957659	111957659	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111957659G>A	uc001eba.3	-	10	1520	c.1464C>T	c.(1462-1464)acC>acT	p.T488T	OVGP1_uc001eaz.3_Silent_p.T450T|OVGP1_uc010owb.2_Silent_p.T136T	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	488					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TCTCTCCAGGGGTCATGGACT	0.532000														75			17		0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44569769	44569769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44569769C>T	uc002xqs.3	+	6	910	c.596C>T	c.(595-597)cCc>cTc	p.P199L		NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	Homo sapiens PDX1 C-terminal inhibiting factor 1 (PCIF1), mRNA.	199						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CCCCCGCATCCCGAAGTGGAA	0.622000														45			18		0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96795611	96795611	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:96795611G>A	uc010yui.2	-	7	826	c.826C>T	c.(826-828)Ctc>Ttc	p.L276F		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	276					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TAGAGTTTGAGGACCCGGGTG	0.647000														70			9		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907650	12907650	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12907650C>T	uc010obf.2	-	1	719	c.493G>A	c.(493-495)Gga>Aga	p.G165R	LOC649330_uc009vno.2_Missense_Mutation_p.G165R	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	165							nucleic acid binding|nucleotide binding										CCCCGCTTTCCACTCTTAGAA	0.488000														478			92		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4673781	4673781	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4673781G>A	uc021qcq.1	+	0	25	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	OR51E1_uc001lzi.4_Missense_Mutation_p.E9K	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	8			S -> N (in dbSNP:rs17224476).		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)		CAATGGCAATGAATCCAGTGC	0.488000														116			44		0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65083039	65083039	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:65083039G>A	uc010wqk.2	-	31	5590	c.5403C>T	c.(5401-5403)tcC>tcT	p.S1801S	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Silent_p.S1800S	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGACTCCGGGGATGAAAAGT	0.468000														112			52		0	0	1	0	0
SPOPL	339745	broad.mit.edu	37	2	139326544	139326544	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:139326544C>T	uc002tvh.3	+	10	1473	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	Homo sapiens speckle-type POZ protein-like (SPOPL), mRNA.	358						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GGGTGGAAGTCCATGATTCAG	0.408000														267			102		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317894	31317894	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:31317894G>A	uc003jhe.2	+	10	2105	c.1745G>A	c.(1744-1746)gGg>gAg	p.G582E	CDH6_uc003jhd.2_Missense_Mutation_p.G582E	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	582	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGCAGCACTGGGACAGTGACT	0.542000														49			22		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129198739	129198739	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:129198739C>T	uc003eml.3	+	13	1821	c.1615C>T	c.(1615-1617)Ctc>Ttc	p.L539F	IFT122_uc003emm.3_Missense_Mutation_p.L488F|IFT122_uc003emn.3_Missense_Mutation_p.L429F|IFT122_uc003emo.3_Missense_Mutation_p.L377F|IFT122_uc003emp.3_Missense_Mutation_p.L338F|IFT122_uc010htc.3_Missense_Mutation_p.L480F|IFT122_uc011bky.2_Missense_Mutation_p.L279F|IFT122_uc011bla.2_Missense_Mutation_p.L279F|IFT122_uc003emr.3_Missense_Mutation_p.L279F|IFT122_uc011bkx.1_Missense_Mutation_p.L328F|IFT122_uc011bkz.1_Non-coding_Transcript|IFT122_uc010htd.1_5'Flank	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	488					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						AAGAGAAGGCCTCTTAGTGGG	0.562000														60			27		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28909943	28909943	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28909943C>T	uc002kwp.3	+	4	673	c.461C>T	c.(460-462)cCt>cTt	p.P154L		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	154	Cadherin 1.				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)			AATGACAACCCTCCAGTGTTT	0.433000														98			23		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31590856	31590856	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:31590856C>T	uc002rnv.1	-	19	2247	c.2168G>A	c.(2167-2169)gGg>gAg	p.G723E		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	723					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTCGGAAAACCCCTTCTTTAG	0.448000														159			48		0	0	1	0	0
CALML6	163688	broad.mit.edu	37	1	1848629	1848629	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1848629G>A	uc001aih.1	+	5	997	c.543G>A	c.(541-543)caG>caA	p.Q181Q		NM_138705	NP_619650	Q8TD86	CALL6_HUMAN	Homo sapiens calmodulin-like 6 (CALML6), mRNA.	181						cytoplasm|nucleus	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		AGCTGATCCAGTAGGTGCAGC	0.667000														8			3		0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15234791	15234791	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:15234791G>A	uc002gon.3	-	2	299	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.	38					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TTGGAGTGGGGAAAGCGGTCC	0.537000														33			18		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102477166	102477166	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:102477166C>T	uc001yks.2	+	31	6659	c.6495C>T	c.(6493-6495)ttC>ttT	p.F2165F		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2165					G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGGACGTGTTCCCTGGAGTCC	0.532000														107			25		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466660	10466660	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10466660C>T	uc003wtc.3	-	3	5177	c.4948G>A	c.(4948-4950)Gag>Aag	p.E1650K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1650					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)		CCCTCCGCCTCCTCGCCCAGC	0.677000														49			15		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67132350	67132350	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:67132350C>T	uc002jhw.1	-	3	518	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	ABCA6_uc002jhy.3_Missense_Mutation_p.E113K	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	115					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGAAGTATTTCGTCCATGTGT	0.323000														11			4		0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31473487	31473487	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31473487C>T	uc003ntn.4	+	1	280	c.164C>T	c.(163-165)cCc>cTc	p.P55L	MICB_uc011dnm.2_Missense_Mutation_p.P23L|MICB_uc021yuq.1_Missense_Mutation_p.P23L|MICB_uc003nto.4_Missense_Mutation_p.P55L	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	55					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	MHC class I protein complex|integral to plasma membrane	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GATGGTCAGCCCTTCCTGCGC	0.582000														69			30		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23809268	23809268	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:23809268C>T	uc003sws.4	+	12	1673	c.1606C>T	c.(1606-1608)Cta>Tta	p.L536L	STK31_uc003swt.4_Silent_p.L513L|STK31_uc011jze.2_Silent_p.L536L|STK31_uc010kuq.3_Silent_p.L513L	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	536							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGTTTTTGACCTATCTGTGGA	0.363000														184			10		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6203924	6203924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6203924C>T	uc001amb.2	-	12	2113	c.2002G>A	c.(2002-2004)Gac>Aac	p.D668N	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	668					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.R667G(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCTTGTCGTCCCTCAGCTTC	0.642000														82			37		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10077009	10077009	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10077009G>A	uc002mmq.1	-	63	4849	c.4763C>T	c.(4762-4764)cCc>cTc	p.P1588L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1588	Fibrillar collagen NC1.				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)			CTTCTTGTCGGGATAGAGGCA	0.592000														43			20		0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17415876	17415876	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:17415876C>T	uc011kye.2	+	7	1436	c.1388C>T	c.(1387-1389)tCt>tTt	p.S463F	SLC7A2_uc011kyc.2_Missense_Mutation_p.S423F|SLC7A2_uc011kyd.2_Missense_Mutation_p.S462F	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	423					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATGGCCTACTCTCTGGTGGCA	0.532000														69			6		0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26537451	26537451	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:26537451C>T	uc002rhe.4	-	6	963	c.963G>A	c.(961-963)tgG>tgA	p.W321*	GPR113_uc010yky.1_Nonsense_Mutation_p.W252*|GPR113_uc002rhb.1_Intron|GPR113_uc010eyk.1_Nonsense_Mutation_p.W122*|GPR113_uc002rhc.1_Intron|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	321					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATACAGGTTCCACTTGAAGC	0.602000														38			14		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284211	159284211	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159284211G>A	uc010piu.2	-	0	239	c.239C>T	c.(238-240)cCc>cTc	p.P80L		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P80P(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAGCATATGGGGAATGATGGC	0.493000														79			34		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58084602	58084602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58084602C>T	uc003djj.2	+	7	1477	c.1312C>T	c.(1312-1314)Cct>Tct	p.P438S	FLNB_uc010hne.2_Missense_Mutation_p.P438S|FLNB_uc003djk.2_Missense_Mutation_p.P438S|FLNB_uc010hnf.2_Missense_Mutation_p.P438S|FLNB_uc003djl.2_Missense_Mutation_p.P269S|FLNB_uc003djm.2_Missense_Mutation_p.P269S	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	438					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGACACTATTCCTAAGAGTCC	0.552000														94			25		0	0	1	0	0
R3HDML	140902	broad.mit.edu	37	20	42969866	42969866	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42969866G>A	uc002xls.1	+	1	464	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	Homo sapiens R3H domain containing-like (R3HDML), mRNA.	98						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CAGGGCTGCCGAAGCCTGGGC	0.587000														49			21		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75993946	75993946	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:75993946G>A	uc003kek.3	+	32	4563	c.4341G>A	c.(4339-4341)aaG>aaA	p.K1447K	IQGAP2_uc011csv.2_Silent_p.K943K|IQGAP2_uc003kel.3_Silent_p.K943K|IQGAP2_uc010izw.1_Silent_p.K148K	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1447					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CCTACATAAAGACTTGTTTAG	0.328000														37			15		0	0	1	0	0
LRRC19	64922	broad.mit.edu	37	9	26999654	26999654	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:26999654G>A	uc003zqh.3	-	1	150	c.39C>T	c.(37-39)ctC>ctT	p.L13L	IFT74_uc010mja.3_Intron|IFT74_uc010mjb.3_Intron|IFT74_uc003zqf.4_Intron|IFT74_uc003zqg.4_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	Homo sapiens leucine rich repeat containing 19 (LRRC19), mRNA.	13						integral to membrane		p.P12L(1)		breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		ATATCATGGAGAGGGGCCAAA	0.303000														27			20		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78340139	78340139	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:78340139C>T	uc003kfs.3	-	5	988	c.982G>A	c.(982-984)Gga>Aga	p.G328R	DMGDH_uc011cte.1_Missense_Mutation_p.G178R|DMGDH_uc011ctf.1_Missense_Mutation_p.G127R|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	328					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GGAGGAACTCCATTGGTGACC	0.458000														89			41		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12341345	12341345	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:12341345C>T	uc001mkg.1	+	3	1820	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	510					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CCCCAGCTTTCCTTGCAGTTA	0.517000														98			42		0	0	1	0	0
ACTA1	58	broad.mit.edu	37	1	229568553	229568554	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:229568553_229568554GG>AA	uc001htm.3	-	2	308_309	c.203_204CC>TT	c.(202-204)acc>aTT	p.T68I		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	68			T -> I (in NEM3).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GGTACTTCAGGGTCAGGATACC	0.584000														82			31		0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4554475	4554475	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4554475G>A	uc010dud.2	-	8	958	c.696C>T	c.(694-696)gtC>gtT	p.V232V	SEMA6B_uc010xih.1_Silent_p.V232V	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	232	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCGCATGGACAAAGTAAG	0.547000														30			11		0	0	1	0	0
CDA	978	broad.mit.edu	37	1	20915772	20915772	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:20915772C>T	uc001bdk.3	+	0	329	c.150C>T	c.(148-150)ttC>ttT	p.F50F	CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	NM_001785	NP_001776	P32320	CDD_HUMAN	Homo sapiens cytidine deaminase (CDA), mRNA.	50					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GGAGAATCTTCAAAGGTAAAG	0.622000														36			12		0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10261701	10261701	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:10261701C>T	uc003jeq.3	+	7	1194	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	CCT5_uc011cmq.2_Silent_p.I188I|CCT5_uc011cmr.2_Silent_p.I286I|CCT5_uc011cms.2_Silent_p.I303I|CCT5_uc011cmt.2_Silent_p.I248I	NM_012073	NP_036205	P48643	TCPE_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.	341					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GAGGGCGGATCGTCCCCAGGT	0.502000														296			95		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160141071	160141071	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160141071C>T	uc001fve.4	+	10	2001	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Nonsense_Mutation_p.Q11*	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	508					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.S507F(1)|p.S507S(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGACAGCTCCCAGACCCACGT	0.517000														117			42		0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178942511	178942511	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:178942511C>T	uc003fjk.3	+	15	2475	c.2318C>T	c.(2317-2319)tCc>tTc	p.S773F		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	773					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CGAATTATGTCCTCTGCAAAA	0.328000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				95			31		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68707096	68707096	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:68707096C>T	uc001ook.1	+	14	2981	c.2879C>T	c.(2878-2880)tCc>tTc	p.S960F	IGHMBP2_uc001ool.1_Missense_Mutation_p.S584F	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	960					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding	p.S960F(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAGAACGGATCCCTGGACCCA	0.657000														30			5		0	0	1	0	0
PTTG1	9232	broad.mit.edu	37	5	159851296	159851296	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:159851296C>T	uc003lyk.3	+	2	434	c.329C>T	c.(328-330)gCc>gTc	p.A110V	PTTG1_uc003lyj.3_Missense_Mutation_p.A110V	NM_004219	NP_004210	O95997	PTTG1_HUMAN	Homo sapiens pituitary tumor-transforming 1 (PTTG1), mRNA.	110					DNA repair|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	SH3 domain binding|cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		TCAGATGATGCCTATCCAGAA	0.378000														139			9		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91347850	91347850	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:91347850C>T	uc001tbj.3	-	0	1104	c.670G>A	c.(670-672)Gag>Aag	p.E224K		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	224										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						GGGGAGGCCTCGCCGCTCACC	0.622000														170			47		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11199665	11199665	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11199665G>A	uc001asd.3	-	34	5044	c.4923C>T	c.(4921-4923)tcC>tcT	p.S1641S		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1641	FAT.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TGACCACAAGGGACCGCACCA	0.502000														154			60		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113169985	113169985	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113169985C>T	uc010mtz.3	-	37	8232	c.7895G>A	c.(7894-7896)gGa>gAa	p.G2632E	SVEP1_uc010mty.3_Missense_Mutation_p.G558E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2632					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTCAAAATATCCCTGGTCATC	0.438000														213			53		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058960	152058960	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152058960G>A	uc001ezo.1	-	2	1263	c.1198C>T	c.(1198-1200)Cat>Tat	p.H400Y		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	400							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)			GCTGTTCCATGGGCCTCAGGA	0.473000														160			68		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678098	25678098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:25678098G>A	uc003grr.3	+	12	1881	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	SLC34A2_uc003grs.3_Silent_p.L599L|SLC34A2_uc010iev.3_Silent_p.L599L	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	600					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGCGCTCGCTGAAGCCCTGGG	0.642000			T	ROS1	NSCLC									95			30		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29040886	29040886	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29040886G>A	uc002kws.3	+	6	884	c.775G>A	c.(775-777)Gat>Aat	p.D259N		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	259	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAAAGTGAAAGATGTCAACGA	0.353000														40			20		0	0	1	0	0
GP9	2815	broad.mit.edu	37	3	128780787	128780787	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:128780787G>A	uc003elm.2	+	2	392	c.205G>A	c.(205-207)Gga>Aga	p.G69R	GP9_uc021xdn.1_Missense_Mutation_p.G69R	NM_000174	NP_000165	P14770	GPIX_HUMAN	Homo sapiens glycoprotein IX (platelet) (GP9), mRNA.	69					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CGTGCCCCCGGGAGCCTTTGA	0.682000														40			16		0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178358763	178358763	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178358763G>A	uc003mjn.1	+	4	958	c.449G>A	c.(448-450)aGa>aAa	p.R150K	ZFP2_uc010jky.2_Missense_Mutation_p.R150K|ZFP2_uc010jkx.1_Missense_Mutation_p.R150K|ZFP2_uc021yjb.1_Missense_Mutation_p.R150K	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Homo sapiens zinc finger protein 2 homolog (mouse) (ZFP2), mRNA.	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R150I(4)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTACATCAAAGAATTCATACT	0.413000														57			26		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12576177	12576177	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12576177C>T	uc002mtv.4	-	3	720	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	ZNF709_uc002mtw.4_Missense_Mutation_p.E155K|ZNF709_uc002mtx.4_Missense_Mutation_p.E187K	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TGAGTTCTTTCATGTATTTGA	0.403000														98			36		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47379846	47379846	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:47379846T>A	uc002leb.2	-	30	4482	c.4194A>T	c.(4192-4194)gaA>gaT	p.E1398D	MYO5B_uc002lea.2_Missense_Mutation_p.E513D	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1398					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCCGGGATATTTCCTGCTGAA	0.567000														67			20		0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46914895	46914895	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46914895C>T	uc002pep.3	-	0	2025	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	391						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CCTCCGCCCTCTGATTATCTG	0.587000														190			39		0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75113440	75113440	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:75113440A>G	uc002ayt.1	+	8	934	c.932A>G	c.(931-933)gAg>gGg	p.E311G	LMAN1L_uc010bke.1_Missense_Mutation_p.E299G	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	311						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GACCTGGAGGAGACGCTGGGC	0.627000														9			2		0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70778438	70778438	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:70778438G>A	uc002ezm.3	-	12	1674	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S	VAC14_uc010cfw.3_Silent_p.S238S|VAC14_uc002ezn.3_Silent_p.S37S|VAC14_uc010cfx.1_5'UTR	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	472					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GGCCTGCGGGGGAGGAAGCGA	0.672000														54			10		0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35108046	35108046	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35108046G>A	uc003zwl.3	-	2	551	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S	FAM214B_uc003zwm.3_Missense_Mutation_p.P76S|FAM214B_uc003zwn.3_Intron|FAM214B_uc003zwo.3_Missense_Mutation_p.P76S|FAM214B_uc003zwp.1_Missense_Mutation_p.P76S|FAM214B_uc010mkk.1_Intron|FAM214B_uc022bgj.1_Missense_Mutation_p.P76S	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA.	76						nucleus											AGCTCCCGGGGACCCTCAGTG	0.637000														32			11		0	0	1	0	0
PGAP3	93210	broad.mit.edu	37	17	37844115	37844115	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:37844115G>A	uc002hsj.3	-	0	196	c.153C>T	c.(151-153)tcC>tcT	p.S51S	ERBB2_uc010cwa.3_5'Flank|ERBB2_uc002hsm.3_5'Flank|PGAP3_uc010wej.2_Silent_p.S51S|PGAP3_uc002hsk.3_Silent_p.S51S|PGAP3_uc010cvz.3_Silent_p.S51S|ERBB2_uc002hsl.3_5'Flank	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA.	51					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						TTGGCTGGCGGGAGCGGAAGT	0.652000														6			4		0	0	1	0	0
RMI1	80010	broad.mit.edu	37	9	86617114	86617114	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:86617114C>T	uc022bjb.1	+	0	1213	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y	RMI1_uc004anq.4_Missense_Mutation_p.H405Y|RMI1_uc004anr.4_Missense_Mutation_p.H405Y|RMI1_uc004anp.4_Missense_Mutation_p.H405Y|RMI1_uc004ans.4_Missense_Mutation_p.H405Y	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN	Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) (RMI1), mRNA.	405					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TTTTTCAGTTCATTGTAATGT	0.313000														67			45		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72509681	72509681	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72509681G>A	uc001jrg.3	+	15	2376	c.2376G>A	c.(2374-2376)gtG>gtA	p.V792V	ADAMTS14_uc001jrh.3_Silent_p.V789V	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	789	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGGATGCGGTGGAGGATGCCA	0.642000														57			12		0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446685	10446685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:10446685G>A	uc003gmn.3	-	2	1755	c.1268C>T	c.(1267-1269)cCt>cTt	p.P423L	ZNF518B_uc021xme.1_Missense_Mutation_p.P423L	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTGAACTGAAGGTTGAAAACT	0.343000														129			57		0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103339570	103339570	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:103339570G>A	uc001ktg.1	-	7	2134	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_Silent_p.F129F|POLL_uc001kte.1_Silent_p.F148F|POLL_uc001kth.1_Silent_p.F181F|POLL_uc001ktj.2_Silent_p.F456F|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Silent_p.F364F|POLL_uc001kti.2_Silent_p.F456F|POLL_uc001ktl.3_Silent_p.F368F|POLL_uc001ktm.3_Silent_p.F456F|POLL_uc010qqc.2_Silent_p.F148F|POLL_uc010qqa.2_Silent_p.F195F	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	456					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CATCTGTGAGGAACCCTGGCC	0.652000								DNA polymerases (catalytic subunits)						42			7		0	0	1	0	0
EPSTI1	94240	broad.mit.edu	37	13	43463358	43463358	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:43463358C>T	uc001uyw.1	-	11	1045	c.969G>A	c.(967-969)tcG>tcA	p.S323S	EPSTI1_uc001uyx.1_Intron	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 1, mRNA.	0								p.S323L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TTAGGTGCCTCGAAAAAACTA	0.294000														42			21		0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156289882	156289882	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:156289882C>T	uc003ios.3	-	4	828	c.564G>A	c.(562-564)atG>atA	p.M188I	MAP9_uc011cin.2_Missense_Mutation_p.M187I|MAP9_uc010iqa.1_Non-coding_Transcript|MAP9_uc003iot.1_Missense_Mutation_p.M187I|MAP9_uc010iqb.2_Missense_Mutation_p.M115I	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	188					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CCTTCTCCTCCATGTGACTTT	0.413000														101			12		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108070663	108070663	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108070663G>A	uc003dwz.3	+	2	417	c.3G>A	c.(1-3)atG>atA	p.M1I	HHLA2_uc011bhl.2_Missense_Mutation_p.E25K|HHLA2_uc010hpu.3_Missense_Mutation_p.M1I|HHLA2_uc003dwy.4_Missense_Mutation_p.M1I	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	1						integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CACAAGACATGAAGGCACAGA	0.358000														23			17		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57115230	57115230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:57115230C>T	uc002lib.3	-	6	830	c.760G>A	c.(760-762)Ggc>Agc	p.G254S	CCBE1_uc010dpq.3_Silent_p.G29G|CCBE1_uc002lia.3_Missense_Mutation_p.G107S	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	254	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GGGCCCTGGCCCCCAGGCAGG	0.582000														90			39		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15582830	15582830	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15582830C>T	uc002nbg.3	-	2	1347	c.1214G>A	c.(1213-1215)gGa>gAa	p.G405E	PGLYRP2_uc002nbf.4_Missense_Mutation_p.G405E	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	405					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GTACAAGAATCCCAGCGGCAG	0.672000														38			13		0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57869041	57869041	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57869041C>T	uc010etw.3	+	3	2333	c.1945C>T	c.(1945-1947)Ctc>Ttc	p.L649F	ZNF304_uc010ygw.2_Missense_Mutation_p.L602F|ZNF304_uc010etx.3_Missense_Mutation_p.L560F	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CAACTCTGGCCTCATTCTGCA	0.478000														68			32		0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358893	72358893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72358893C>T	uc009xqg.3	-	2	745	c.584G>A	c.(583-585)aGg>aAg	p.R195K	PRF1_uc001jrf.4_Missense_Mutation_p.R195K	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	195	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCCGAGGGCCCTCTTGAAGTC	0.612000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					41			7		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043735	20043735	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20043735G>A	uc002dgu.1	-	1	546	c.384C>T	c.(382-384)atC>atT	p.I128I	GPR139_uc010vaw.1_Silent_p.I35I	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	128						integral to membrane|plasma membrane		p.I128N(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGCAGACAGCGATATACCTGT	0.507000														72			23		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039405	248039405	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248039405G>A	uc001ido.3	+	5	1123	c.1075G>A	c.(1075-1077)Ggt>Agt	p.G359S	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	359	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGCAGAGTGGGGTTTAGGGGT	0.562000														66			30		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2979523	2979523	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:2979523C>T	uc003smv.3	-	5	1058	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	242					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	p.Q242P(3)		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)		AGCTTACATTCCTCCTCCATC	0.478000			Mis		DLBCL									124			32		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94884139	94884139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:94884139G>A	uc002btj.3	+	5	1020	c.955G>A	c.(955-957)Gat>Aat	p.D319N	MCTP2_uc010urg.1_Missense_Mutation_p.D319N|MCTP2_uc002bti.2_Missense_Mutation_p.D319N|MCTP2_uc010boj.3_Missense_Mutation_p.D48N|MCTP2_uc010bok.3_Missense_Mutation_p.D319N|MCTP2_uc002btg.4_Missense_Mutation_p.D319N|MCTP2_uc002bth.4_Missense_Mutation_p.D319N	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	319					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAAACAGGGTGATTTCAAGAG	0.373000														67			14		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54420801	54420801	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:54420801G>A	uc003dhf.3	+	4	429	c.381_splice	c.e4+1	p.Q127_splice	CACNA2D3_uc011beu.1_Splice_Site|CACNA2D3_uc003dhg.1_Splice_Site_p.Q33_splice|CACNA2D3_uc003dhh.1_Splice_Site|CACNA2D3_uc010hmv.1_Splice_Site	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	127						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CAGACTTACAGGTAACTGATT	0.383000														15			5		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6511995	6511995	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6511995C>T	uc001amy.3	+	9	2332	c.2164C>T	c.(2164-2166)Ccc>Tcc	p.P722S	ESPN_uc001amz.3_Missense_Mutation_p.P156S	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	722	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding	p.P722S(2)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		AAGCTTGGTTCCCGTGCCGCC	0.672000														15			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594659	179594659	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179594659G>A	uc021vsy.1	-	59	14814	c.14589C>T	c.(14587-14589)ttC>ttT	p.F4863F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F1524F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5790	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G4862R(1)		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)			GCTTCTTAATGAATTGAGGAG	0.428000														25			10		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57815731	57815731	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:57815731G>A	uc010bfw.3	+	11	2953	c.2760G>A	c.(2758-2760)gaG>gaA	p.E920E	CGNL1_uc002aeg.3_Silent_p.E920E	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	920						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGTTGTCTGAGAAGCTCAAAG	0.512000														29			15		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004825	74004825	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74004825C>T	uc010wss.1	-	21	4755	c.4527G>A	c.(4525-4527)caG>caA	p.Q1509Q	EVPL_uc002jqi.2_Silent_p.Q1487Q|EVPL_uc010wst.1_Silent_p.Q957Q	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1487	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGTCTTCTCCTGGTCCAGGT	0.572000														120			62		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23391470	23391470	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23391470G>A	uc002dln.3	+	11	1698	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	508					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TCGCACCATTGAAGAATCAGC	0.542000														81			19		0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44639787	44639787	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44639787C>T	uc002xqz.3	+	4	674	c.655C>T	c.(655-657)Cca>Tca	p.P219S		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	219					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TGCAGTGGTTCCAACTCGGTT	0.632000														281			115		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32014099	32014099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32014099C>T	uc003nzl.2	-	30	10655	c.10453G>A	c.(10453-10455)Gac>Aac	p.D3485N	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3532					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCTGCCCGTCCGTGTCCCTG	0.632000														35			10		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60348221	60348221	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:60348221C>T	uc002ybn.2	+	3	647	c.559C>T	c.(559-561)Ccg>Tcg	p.P187S	CDH4_uc002ybr.2_Missense_Mutation_p.P150S|CDH4_uc002ybp.2_Missense_Mutation_p.P113S	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	187	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding	p.P187L(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGGGCCCTTCCCGCAGCAGCT	0.701000														4			5		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30963129	30963129	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:30963129C>T	uc003tbv.2	+	3	805	c.695C>T	c.(694-696)gCc>gTc	p.A232V	FAM188B_uc011kac.1_Missense_Mutation_p.A292V|FAM188B_uc010kwf.1_Missense_Mutation_p.A149V|FAM188B_uc010kwh.1_Missense_Mutation_p.A181V|FAM188B_uc022abh.1_Missense_Mutation_p.A117V	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCATCCTGGCCCCACGCAGC	0.597000														28			19		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555795	125555795	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:125555795G>A	uc010flu.3	+	18	3479	c.3115G>A	c.(3115-3117)Gaa>Aaa	p.E1039K	CNTNAP5_uc002tno.3_Missense_Mutation_p.E1038K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1038	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCCATCCAAGGAAAACATTGC	0.438000														35			20		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13922221	13922221	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13922221C>T	uc003jfd.2	-	4	697	c.655G>A	c.(655-657)Gag>Aag	p.E219K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	219	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)					CTCACCTTCTCCTTCAGACTC	0.488000									Kartagener syndrome					25			11		0	0	1	0	0
PMVK	10654	broad.mit.edu	37	1	154897656	154897656	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154897656G>A	uc001ffq.3	-	4	851	c.528C>T	c.(526-528)cgC>cgT	p.R176R		NM_006556	NP_006547	Q15126	PMVK_HUMAN	Homo sapiens phosphomevalonate kinase (PMVK), mRNA.	176					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTCCTCCAGGCGCTGTTCAA	0.547000														236			54		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389662	20389662	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20389662G>A	uc010tkw.2	+	0	897	c.897G>A	c.(895-897)agG>agA	p.R299R		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCCGTAAGGAAAATTGTGA	0.383000														111			46		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136562429	136562429	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136562429G>A	uc002tuu.1	-	9	4383	c.4372C>T	c.(4372-4374)Cct>Tct	p.P1458S		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1458	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTTCCATCAGGGAGGATGCGA	0.562000														37			20		0	0	1	0	0
FAM50B	26240	broad.mit.edu	37	6	3850651	3850651	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:3850651G>A	uc003mvu.3	+	1	718	c.606G>A	c.(604-606)cgG>cgA	p.R202R	FAM50B_uc021ykt.1_Silent_p.R202R	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.	202						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GCACGGTGCGGGTGCGCAAGG	0.672000														54			36		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14583423	14583423	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:14583423C>T	uc021wtn.1	-	0	166	c.166G>A	c.(166-168)Gag>Aag	p.E56K	GRIP2_uc003byv.1_5'Flank	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	0	PDZ 1.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGGAGAGGCTCGCCATGAAGA	0.557000														12			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585896	179585896	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179585896G>A	uc021vsy.1	-	75	19343	c.19118C>T	c.(19117-19119)tCa>tTa	p.S6373L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3034L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7300	Ig-like 45.						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)			TGCAACTTTTGAAGCTTCTAA	0.348000														35			15		0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38230404	38230404	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:38230404C>T	uc001zjw.3	+	4	463	c.361C>T	c.(361-363)Cca>Tca	p.P121S	TMCO5A_uc001zjv.1_Missense_Mutation_p.P121S|TMCO5A_uc010bbc.1_Missense_Mutation_p.P121S	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	121						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						ACAAAGCAGTCCAGATGGAGC	0.333000														9			6		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101715887	101715887	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:101715887G>A	uc001kqj.2	-	3	1436	c.1344C>T	c.(1342-1344)ccC>ccT	p.P448P	DNMBP-AS1_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	448					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)		TTGCTTCTAGGGGAAGAAGGT	0.502000														146			38		0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670166	95670166	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:95670166G>A	uc001yef.2	-	8	1636	c.1520C>T	c.(1519-1521)tCc>tTc	p.S507F		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	507						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		ACCATTACAGGAAGAAGACTG	0.468000														44			15		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52944946	52944946	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:52944946C>T	uc003gzl.3	+	7	1344	c.1066C>T	c.(1066-1068)Cat>Tat	p.H356Y	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.H324Y|SPATA18_uc003gzk.1_Missense_Mutation_p.H356Y	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	356					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.I355T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CTTCAAGATCCATGTGAGAAA	0.383000														120			27		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952828	119952828	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:119952828G>A	uc010inb.3	+	3	3094	c.2898G>A	c.(2896-2898)aaG>aaA	p.K966K	SYNPO2_uc010ina.3_Silent_p.K966K|SYNPO2_uc003icm.4_Silent_p.K966K|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Silent_p.K894K|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	966						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATGTCATGAAGCACCAACCGT	0.498000														58			19		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751918	140751918	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140751918C>T	uc003ljw.2	+	0	1957	c.1957C>T	c.(1957-1959)Cct>Tct	p.P653S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.P653S|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	655	Cadherin 6.				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)			AGGACAGCAGCCTCTTTCAGC	0.647000														64			25		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3351177	3351177	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:3351177C>T	uc022aqr.1	-	10	1806	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	473	CUB 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCCCACCTTCCCAGCATCAC	0.507000														8			12		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45281205	45281206	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45281205_45281206CC>TT	uc002ozs.3	+	0	80_81	c.17_18CC>TT	c.(16-18)gcc>gTT	p.A6V	CBLC_uc010ejt.3_Missense_Mutation_p.A6V	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	6					cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CTGGCGGTGGCCCCGTGGGGGC	0.713000			M		AML									15			9		0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96971644	96971644	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96971644G>A	uc001kke.3	+	5	890	c.765G>A	c.(763-765)atG>atA	p.M255I	C10orf129_uc009xuu.1_Missense_Mutation_p.M165I	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	255					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GACGGTGGATGGATCTCCAGC	0.483000														42			12		0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25627729	25627729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:25627729C>T	uc003abp.1	+	5	656	c.608C>T	c.(607-609)cCc>cTc	p.P203L		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	203	C-terminal arm.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GCCTTCCACCCCTCCAACTAG	0.622000														66			24		0	0	1	0	0
DHRS13	147015	broad.mit.edu	37	17	27225649	27225649	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:27225649G>A	uc002hde.4	-	4	1071	c.944C>T	c.(943-945)cCt>cTt	p.P315L	FLOT2_uc002hdc.3_5'Flank|DHRS13_uc002hdd.4_Missense_Mutation_p.P265L|DHRS13_uc010wba.2_Missense_Mutation_p.P234L|AX795351_uc002hdf.3_Non-coding_Transcript	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 13 (DHRS13), mRNA.	315						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			ATCCTCCCCAGGCCCAAGCCC	0.627000														9			8		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36259149	36259149	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:36259149C>T	uc010jwf.2	+	1	258	c.258C>T	c.(256-258)ttC>ttT	p.F86F	PNPLA1_uc010jwe.1_5'UTR|PNPLA1_uc003olw.1_5'UTR	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	86	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AGAAATCCTTCCTGGGGCCCT	0.592000														51			19		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29608128	29608128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29608128G>A	uc001usl.4	+	1	2400	c.2342G>A	c.(2341-2343)gGa>gAa	p.G781E		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	771	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCCCAGCTAGGATTGGGTGCA	0.507000														50			18		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175105061	175105061	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175105061G>A	uc001gkl.1	+	15	3524	c.3411G>A	c.(3409-3411)atG>atA	p.M1137I		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1137	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGGACCCCATGAAGGAGTTCT	0.542000														73			32		0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60230367	60230367	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:60230367C>T	uc002lip.4	+	8	1676	c.1676C>T	c.(1675-1677)tCg>tTg	p.S559L	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Missense_Mutation_p.S29L	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	559					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TGTGTGACCTCGGCTGACCAG	0.428000														76			23		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123515039	123515039	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:123515039C>T	uc010nqy.3	-	31	7610	c.7546G>A	c.(7546-7548)Gga>Aga	p.G2516R	ODZ1_uc011muj.2_Missense_Mutation_p.G2515R|ODZ1_uc004euj.3_Missense_Mutation_p.G2509R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2509					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TGCTTCCCTCCTTCAAGGCAC	0.453000														50			74		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109779736	109779736	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:109779736C>T	uc010agk.2	+	30	4511	c.3889C>T	c.(3889-3891)Cct>Tct	p.P1297S	MYO16_uc001vqt.1_Missense_Mutation_p.P1275S|MYO16_uc010tjh.1_Missense_Mutation_p.P787S	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1275					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity	p.P1297P(2)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CATCTGGTCTCCTTCGCTGCA	0.642000														18			9		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40037088	40037088	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:40037088G>A	uc003ayc.3	+	5	957	c.957G>A	c.(955-957)tgG>tgA	p.W319*	CACNA1I_uc003ayd.3_Nonsense_Mutation_p.W319*|CACNA1I_uc003aye.3_Nonsense_Mutation_p.W234*|CACNA1I_uc003ayf.3_Nonsense_Mutation_p.W234*	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	319					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GTGTCAACTGGAACCGTTACT	0.587000														64			21		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43757787	43757787	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43757787C>T	uc002owd.4	-	5	1354	c.1255G>A	c.(1255-1257)Gga>Aga	p.G419R	PSG9_uc002owe.4_Missense_Mutation_p.G326R|PSG9_uc010xwm.2_Missense_Mutation_p.G326R|PSG9_uc002owf.4_Missense_Mutation_p.G233R	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	419					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				gtcaggtctccatggcaggga	0.453000														105			7		0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17895037	17895037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17895037G>A	uc002nhg.3	+	24	2498	c.2219G>A	c.(2218-2220)cGa>cAa	p.R740Q	FCHO1_uc010ebb.2_Missense_Mutation_p.R740Q|FCHO1_uc002nhh.2_Missense_Mutation_p.R740Q|FCHO1_uc010xpw.1_Missense_Mutation_p.R690Q	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	740										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GTGCTGCTGCGATACCAGGTG	0.657000											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		8			3		0	0	1	0	0
NR2C1	7181	broad.mit.edu	37	12	95419008	95419008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:95419008C>T	uc001tdm.4	-	12	1811	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K		NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	519					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TCTATCTGTTCCATGTTTTCT	0.343000														32			10		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95069791	95069791	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95069791G>A	uc001kin.3	-	52	6256	c.6133C>T	c.(6133-6135)Ctc>Ttc	p.L2045F	MYOF_uc001kio.3_Missense_Mutation_p.L2032F|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	2045					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAAGAGTAGAGGAGCACGGCC	0.562000														33			19		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234113017	234113017	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234113017C>T	uc010zmo.2	+	24	3287	c.3134C>T	c.(3133-3135)cCc>cTc	p.P1045L	INPP5D_uc010zmp.2_Missense_Mutation_p.P1044L	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1074	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)		GGCGAGGGGCCCGGCAAGCAG	0.706000														37			10		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816422	156816422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156816422G>A	uc021ygm.1	+	28	3568	c.3430G>A	c.(3430-3432)Gag>Aag	p.E1144K	CYFIP2_uc011ddn.2_Missense_Mutation_p.E1119K|CYFIP2_uc011ddo.2_Missense_Mutation_p.E949K|CYFIP2_uc021ygn.1_Missense_Mutation_p.E1144K|CYFIP2_uc021ygo.1_Missense_Mutation_p.E1144K|CYFIP2_uc003lwt.3_Missense_Mutation_p.E1048K|CYFIP2_uc011ddp.2_Missense_Mutation_p.E879K	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	1170					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGAACCAACGAGTTCACAGC	0.597000														16			5		0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36116684	36116684	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:36116684G>A	uc003jkb.1	-	10	1729	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	438						integral to membrane		p.C437R(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGATGGAAAGGAAGCAGGCAA	0.338000														70			10		0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	420538	420538	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:420538G>A	uc003gae.3	-	4	903	c.368C>T	c.(367-369)gCt>gTt	p.A123V	ABCA11P_uc003gac.2_Missense_Mutation_p.A72V|ABCA11P_uc003gad.2_Non-coding_Transcript|ABCA11P_uc011buv.2_3'UTR|ABCA11P_uc010ibd.2_Missense_Mutation_p.A123V					Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene (ABCA11P), non-coding RNA.																		TTGTTGAAAAGCAACTTTCTT	0.393000														29			16		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23808660	23808660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:23808660G>A	uc003sws.4	+	11	1530	c.1463G>A	c.(1462-1464)gGa>gAa	p.G488E	STK31_uc003swt.4_Missense_Mutation_p.G465E|STK31_uc011jze.2_Missense_Mutation_p.G488E|STK31_uc010kuq.3_Missense_Mutation_p.G465E	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	488							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCCAAAGAAGGAGCAAATTCT	0.358000														120			41		0	0	1	0	0
SLC46A3	283537	broad.mit.edu	37	13	29284944	29284944	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29284944G>A	uc001usj.3	-	3	1639	c.1097C>T	c.(1096-1098)tCt>tTt	p.S366F	SLC46A3_uc001usg.3_Missense_Mutation_p.S291F|SLC46A3_uc001usi.3_Missense_Mutation_p.S366F|SLC46A3_uc001ush.3_Missense_Mutation_p.S366F|SLC46A3_uc001usk.3_3'UTR	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	366					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CCGTAGAACAGAGAATGGCAC	0.388000														88			32		0	0	1	0	0
CLDN8	9073	broad.mit.edu	37	21	31587956	31587956	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:31587956C>T	uc002ynu.2	-	0	514	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_199328	NP_955360	P56748	CLD8_HUMAN	Homo sapiens claudin 8 (CLDN8), mRNA.	96					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.M96V(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						GGATGGCCATCATGAAAGCCA	0.522000														49			17		0	0	1	0	0
NIM1	167359	broad.mit.edu	37	5	43280253	43280253	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:43280253G>A	uc003jno.3	+	3	1614	c.733G>A	c.(733-735)Gag>Aag	p.E245K		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA.	245	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										CTTCCGGGACGAGCACTACAT	0.527000														79			34		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64669638	64669638	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64669638G>A	uc001obx.3	-	28	4030	c.3915C>T	c.(3913-3915)ctC>ctT	p.L1305L	ATG2A_uc001obw.3_Silent_p.L70L	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1305							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ACGCCTGAGGGAGGTGGCCAC	0.647000														47			22		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9066649	9066649	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:9066649C>T	uc003jek.2	-	16	2895	c.2183G>A	c.(2182-2184)cGa>cAa	p.R728Q		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	728	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTATCGGAATCGTTGCTCATA	0.547000														115			53		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27455079	27455079	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27455079C>T	uc002rji.3	+	16	2794	c.2632C>T	c.(2632-2634)Ctt>Ttt	p.L878F	CAD_uc010eyw.3_Missense_Mutation_p.L815F	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	878	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACAGATTGCCCTTGCAGTTCT	0.567000														79			22		0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158745790	158745790	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:158745790G>A	uc003lxr.1	-	5	851	c.809C>T	c.(808-810)tCc>tTc	p.S270F		NM_002187	NP_002178	P29460	IL12B_HUMAN	Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.	270	Fibronectin type-III.				T-helper 1 type immune response|T-helper cell differentiation|cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAATGTCAGGGAGAAGTAGGA	0.507000														62			26		0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8610536	8610536	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8610536G>A	uc001qum.1	+	1	191	c.74G>A	c.(73-75)gGg>gAg	p.G25E		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA.	25					defense response to fungus|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine secretion	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					TCTGTGGCTGGGATTTCCATT	0.493000														51			24		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63149660	63149660	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63149660G>A	uc001nww.3	+	5	1252	c.984G>A	c.(982-984)ctG>ctA	p.L328L	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.	328					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAAAGAACTGGAGGCAGCAC	0.408000														131			64		0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183498122	183498122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:183498122C>T	uc001gqg.3	+	6	902	c.652C>T	c.(652-654)Cct>Tct	p.P218S	SMG7_uc010pob.2_Missense_Mutation_p.P247S|SMG7_uc021pga.1_Missense_Mutation_p.P176S|SMG7_uc001gqf.3_Missense_Mutation_p.P218S|SMG7_uc001gqh.3_Missense_Mutation_p.P218S|SMG7_uc010poc.2_Missense_Mutation_p.P176S	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	218					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TGTGAAGTTCCCTTTCCCAGC	0.418000														104			37		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202124	39202124	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:39202124G>A	uc003jls.3	-	0	1006	c.939C>T	c.(937-939)ttC>ttT	p.F313F	FYB_uc003jlt.3_Silent_p.F313F|FYB_uc003jlu.3_Silent_p.F313F|FYB_uc011cpl.2_Silent_p.F323F	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	313					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GGGCCTTAGGGAACCTGGCAG	0.498000														67			27		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313882	54313882	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54313882G>A	uc002qcj.4	-	2	1251	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.P344L|NLRP12_uc002qci.4_Missense_Mutation_p.P344L|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.P344L	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	344	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.R343R(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAAAGCCGTGGGCCGTGTGGT	0.547000														118			48		0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29695762	29695762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:29695762C>T	uc003aet.3	+	15	2180	c.1852C>T	c.(1852-1854)Cct>Tct	p.P618S	EWSR1_uc003aev.3_Missense_Mutation_p.P623S|EWSR1_uc003aex.3_Missense_Mutation_p.P617S|EWSR1_uc003aew.3_Missense_Mutation_p.P562S|EWSR1_uc003aey.3_Missense_Mutation_p.P413S|EWSR1_uc003aez.3_Missense_Mutation_p.P279S	NM_005243	NP_005234	Q01844	EWS_HUMAN	Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA.	618	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	RNA binding|calmodulin binding|nucleotide binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACGAGGTGGCCCTGGGGGGCC	0.597000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""									8			7		0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87744939	87744939	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:87744939C>T	uc003hqd.2	-	5	1184	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	346						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TCATTCACCTCCAAGAAGGCA	0.498000														74			33		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051383	96051383	+	Silent	SNP	C	T	T	rs143402775		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:96051383C>T	uc004ati.1	+	19	4458	c.4458C>T	c.(4456-4458)ctC>ctT	p.L1486L	WNK2_uc011lud.1_Silent_p.L1449L|WNK2_uc004atj.3_Silent_p.L1449L|WNK2_uc004atk.3_Silent_p.L1086L|WNK2_uc004atl.1_Silent_p.L44L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1486					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGCAGCCCCTCGTGGTGGGCC	0.677000														5			3		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101818765	101818765	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:101818765C>T	uc001pgm.3	+	3	668	c.398C>T	c.(397-399)tCc>tTc	p.S133F	KIAA1377_uc001pgn.3_Missense_Mutation_p.S89F|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	133							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TCTTTAGTTTCCCGAAAACCA	0.333000														66			9		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71139691	71139691	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:71139691G>A	uc001swi.2	-	5	1328	c.914C>T	c.(913-915)cCt>cTt	p.P305L	PTPRR_uc001swh.2_Missense_Mutation_p.P60L|PTPRR_uc009zrs.3_Missense_Mutation_p.P99L|PTPRR_uc010stq.2_Missense_Mutation_p.P193L|PTPRR_uc010str.1_Missense_Mutation_p.P154L	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	305					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCGGCCTTGAGGGTCCACGAC	0.532000														37			24		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48677180	48677180	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48677180C>T	uc002irk.1	+	16	4022	c.3650C>T	c.(3649-3651)cCc>cTc	p.P1217L	CACNA1G_uc002iri.1_Missense_Mutation_p.P1217L|CACNA1G_uc002irj.1_Missense_Mutation_p.P1194L|CACNA1G_uc002irl.1_Missense_Mutation_p.P1194L|CACNA1G_uc002irm.1_Missense_Mutation_p.P1194L|CACNA1G_uc002irn.1_Missense_Mutation_p.P1194L|CACNA1G_uc002iro.1_Missense_Mutation_p.P1194L|CACNA1G_uc002irp.1_Missense_Mutation_p.P1217L|CACNA1G_uc002irq.1_Missense_Mutation_p.P1194L|CACNA1G_uc002irr.1_Missense_Mutation_p.P1217L|CACNA1G_uc002irs.1_Missense_Mutation_p.P1217L|CACNA1G_uc002irt.1_Missense_Mutation_p.P1217L|CACNA1G_uc002iru.1_Missense_Mutation_p.P1194L|CACNA1G_uc002irv.1_Missense_Mutation_p.P1217L|CACNA1G_uc002irw.1_Missense_Mutation_p.P1194L|CACNA1G_uc002irx.1_Missense_Mutation_p.P1130L|CACNA1G_uc002iry.1_Missense_Mutation_p.P1130L|CACNA1G_uc002isg.1_Missense_Mutation_p.P1130L|CACNA1G_uc002ish.1_Missense_Mutation_p.P1130L|CACNA1G_uc002isi.1_Missense_Mutation_p.P1107L|CACNA1G_uc002irz.1_Missense_Mutation_p.P1130L|CACNA1G_uc002isa.1_Missense_Mutation_p.P1130L|CACNA1G_uc002isd.1_Missense_Mutation_p.P1130L|CACNA1G_uc002isb.1_Missense_Mutation_p.P1130L|CACNA1G_uc002isc.1_Missense_Mutation_p.P1130L|CACNA1G_uc002ise.1_Missense_Mutation_p.P1130L|CACNA1G_uc002isf.1_Missense_Mutation_p.P1130L|CACNA1G_uc002isj.3_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1217					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGATGACCCCCCACTGGAT	0.667000														33			5		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872121	213872121	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:213872121G>A	uc002vem.3	-	7	1713	c.1544C>T	c.(1543-1545)tCa>tTa	p.S515L	IKZF2_uc010fuu.3_Missense_Mutation_p.S370L|IKZF2_uc002vej.3_Missense_Mutation_p.S462L|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.S441L|IKZF2_uc002vel.3_Missense_Mutation_p.S436L|IKZF2_uc010fuw.3_Missense_Mutation_p.S289L|IKZF2_uc010fux.3_Missense_Mutation_p.S289L|IKZF2_uc010fuy.3_Missense_Mutation_p.S443L|IKZF2_uc002ven.3_Missense_Mutation_p.S489L|IKZF2_uc002vei.3_Missense_Mutation_p.S293L	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AATGTGTGATGAAAACTCATA	0.483000														105			25		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130408766	130408766	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:130408766G>A	uc004ewe.4	-	17	3856	c.3573C>T	c.(3571-3573)ccC>ccT	p.P1191P	IGSF1_uc004ewd.3_Silent_p.P1186P|IGSF1_uc022cdv.1_Silent_p.P1177P|IGSF1_uc004ewf.2_Silent_p.P1166P	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1186	Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CACCTGGCAGGGGTCCTCGGC	0.502000														57			88		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439343	150439343	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150439343G>A	uc022apw.1	+	5	868	c.728G>A	c.(727-729)gGg>gAg	p.G243E	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.G39E	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		ACAGGCTGCGGGAAAAGTGCC	0.507000														73			31		0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132199880	132199880	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:132199880G>A	uc003kxz.1	-	0	598	c.346C>T	c.(346-348)Ctc>Ttc	p.L116F	GDF9_uc011cxj.1_Missense_Mutation_p.L28F|UQCRQ_uc003kya.1_5'Flank	NM_005260	NP_005251	O60383	GDF9_HUMAN	Homo sapiens growth differentiation factor 9 (GDF9), mRNA.	116					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.R115W(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGGTGAAGAGCCGAACAGTG	0.483000														107			28		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124193559	124193559	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124193559G>A	uc003ehg.3	+	25	4202	c.4075G>A	c.(4075-4077)Gga>Aga	p.G1359R	KALRN_uc010hrv.1_Missense_Mutation_p.G1350R|KALRN_uc003ehf.1_Missense_Mutation_p.G1359R|KALRN_uc011bjy.1_Missense_Mutation_p.G1350R|KALRN_uc003ehh.1_Missense_Mutation_p.G705R	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1359	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G1359G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGAGGATGTGGGACACTGCTT	0.517000														53			18		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316279	30316279	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:30316279C>T	uc009xle.2	-	2	2935	c.2798G>A	c.(2797-2799)gGc>gAc	p.G933D	KIAA1462_uc001iux.3_Missense_Mutation_p.G933D|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.G795D	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	933										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCGAAAGCGGCCCGGGGATGG	0.607000														72			10		0	0	1	0	0
AADAT	51166	broad.mit.edu	37	4	170990371	170990371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:170990371G>A	uc003isr.3	-	6	1073	c.731C>T	c.(730-732)cCa>cTa	p.P244L	AADAT_uc003iss.3_Missense_Mutation_p.P244L|AADAT_uc003ist.3_Missense_Mutation_p.P248L	NM_016228	NP_872603	Q8N5Z0	AADAT_HUMAN	Homo sapiens aminoadipate aminotransferase (AADAT), transcript variant 1, mRNA.	244					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AAGAAATGTTGGTACCCTGAA	0.388000														36			23		0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120007815	120007815	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:120007815C>T	uc011muc.2	-	1	1090	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	279										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TCTTTCTCTTCCTCGCCTGCA	0.458000														149			210		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108012092	108012092	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:108012092G>A	uc001tmk.1	+	9	2910	c.2389G>A	c.(2389-2391)Gag>Aag	p.E797K	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Missense_Mutation_p.E797K|BTBD11_uc001tml.1_Missense_Mutation_p.E334K	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	797						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGCCCTGAGGGAGGCCATGTA	0.627000														34			11		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29917838	29917838	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29917838G>A	uc002rmy.3	-	2	1782	c.830C>T	c.(829-831)tCc>tTc	p.S277F		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	277	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CAGTGGAGGGGAATACTCCAG	0.567000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					79			30		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228155603	228155603	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228155603G>A	uc002vom.2	+	37	3372	c.3210_splice	c.e37+1	p.T1070_splice	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1070	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGGACCAACGGTATATAGGCC	0.478000														21			5		0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39883676	39883676	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:39883676C>T	uc003axv.4	+	1	563	c.324C>T	c.(322-324)ttC>ttT	p.F108F	MGAT3_uc010gxy.3_Silent_p.F108F	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	108					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCGAGTATTTCGTGCGCACCA	0.706000														21			7		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157494322	157494322	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157494322G>A	uc009wsm.3	-	9	2144	c.1986C>T	c.(1984-1986)acC>acT	p.T662T	FCRL5_uc001fqu.3_Silent_p.T662T|FCRL5_uc010phv.1_Silent_p.T662T|FCRL5_uc010phw.1_Silent_p.T577T	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	662	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGCCCTGAAGGTGAGGATGG	0.507000														38			22		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30724604	30724604	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30724604C>T	uc002dze.1	+	14	2591	c.2206C>T	c.(2206-2208)Cgt>Tgt	p.R736C	SRCAP_uc021tgn.1_Missense_Mutation_p.R736C|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.R593C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	736	Helicase ATP-binding.				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)			CCAGGCCTTCCGTCGCAAGAA	0.522000														82			25		0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200819244	200819244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:200819244C>T	uc001gvl.3	+	11	3650	c.3380C>T	c.(3379-3381)tCc>tTc	p.S1127F	CAMSAP2_uc001gvk.3_Missense_Mutation_p.S1116F|CAMSAP2_uc001gvm.3_Missense_Mutation_p.S1100F	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	1127						cytoplasm|microtubule	protein binding										ATTGAAGTTTCCCTCTCAGAT	0.413000														115			63		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87966146	87966146	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:87966146G>A	uc001kdl.1	-	2	596	c.495C>T	c.(493-495)ttC>ttT	p.F165F	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	165						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGAACATGACGAACTTCTGCC	0.617000										Multiple Myeloma(13;0.14)				58			6		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052360	44052360	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:44052360G>A	uc001jaw.4	-	1	1821	c.1168C>T	c.(1168-1170)Ctt>Ttt	p.L390F	ZNF239_uc001jax.4_Missense_Mutation_p.L390F|ZNF239_uc009xmj.3_Missense_Mutation_p.L390F|ZNF239_uc009xmk.3_Missense_Mutation_p.L390F|ZNF239_uc021pph.1_Missense_Mutation_p.L390F	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGGATGCGAAGATCCGAGCTC	0.527000														78			8		0	0	1	0	0
MYL10	93408	broad.mit.edu	37	7	101256771	101256771	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:101256771C>T	uc003uyr.3	-	7	843	c.665G>A	c.(664-666)gGt>gAt	p.G222D		NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN	Homo sapiens myosin, light chain 10, regulatory (MYL10), mRNA.	222	EF-hand 3.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CTTCTCTTCACCGTGAGTGAT	0.547000														91			14		0	0	1	0	0
CLLU1OS	574016	broad.mit.edu	37	12	92814813	92814813	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:92814813C>T	uc001tcb.1	-	2	281	c.279G>A	c.(277-279)ggG>ggA	p.G93G	CLLU1_uc001tcc.2_5'Flank|CLLU1_uc001tcd.2_5'Flank|CLLU1_uc001tce.1_5'Flank|CLLU1_uc001tcf.2_5'Flank	NM_001025232	NP_001020403	Q5K130	CLU1O_HUMAN	Homo sapiens chronic lymphocytic leukemia up-regulated 1 opposite strand (CLLU1OS), mRNA.	93								p.D92N(1)		large_intestine(1)|lung(7)	8						CTTCCTTCTTCCCATCATCAT	0.428000														347			79		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55202097	55202097	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:55202097G>A	uc003jql.3	+	8	1425	c.1233G>A	c.(1231-1233)acG>acA	p.T411T	IL31RA_uc003jqk.3_Silent_p.T411T|IL31RA_uc011cqj.2_Silent_p.T269T|IL31RA_uc003jqm.3_Silent_p.T392T|IL31RA_uc003jqn.3_Silent_p.T411T|IL31RA_uc010iwa.1_Silent_p.T379T|IL31RA_uc021xyq.1_Silent_p.T392T|IL31RA_uc003jqo.3_Silent_p.T269T	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	379	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)				CTCAGGCCACGAACTGGACGA	0.498000														38			19		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79375891	79375891	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:79375891G>A	uc021yaw.1	+	19	2866	c.2675G>A	c.(2674-2676)gGc>gAc	p.G892D	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	892	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CCCCAGGTGGGCTACATCAGG	0.557000														18			3		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256729	140256729	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140256729G>A	uc003lic.2	+	0	1799	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	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.E558K	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	572	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAGAACGACAA	0.701000														153			66		0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164272255	164272255	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:164272255G>A	uc003iqn.3	+	3	1012	c.830G>A	c.(829-831)tGg>tAg	p.W277*	NPY5R_uc021xtw.1_Nonsense_Mutation_p.W277*	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	277					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AGCCATAAATGGAGTTATTCA	0.398000														79			28		0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52940209	52940209	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52940209C>T	uc001sao.3	-	6	1256	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	396	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCCTCCAGCTCGTCCAGCTTG	0.632000														57			19		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105174066	105174066	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105174066C>T	uc001kwy.1	+	10	1437	c.1350C>T	c.(1348-1350)atC>atT	p.I450I		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	450					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ATCATGACATCGAACCTGGGG	0.443000														37			18		0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68777148	68777148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:68777148C>T	uc003hdr.1	-	9	1299	c.1178G>A	c.(1177-1179)gGa>gAa	p.G393E	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.G390E	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	393	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ACAGTTATCTCCCCAGCTTAC	0.388000														102			31		0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47583819	47583819	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:47583819G>A	uc002ioz.4	+	2	492	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	123					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					TGGGCGCTGCGAGGCGTGCCG	0.697000														16			11		0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96827036	96827036	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:96827036C>T	uc004auf.2	+	1	355	c.15C>T	c.(13-15)gtC>gtT	p.V5V	PTPDC1_uc004aug.2_Silent_p.V5V	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 2, mRNA.	5							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CTGCAGGAGTCTTGCCTCAGA	0.368000														47			20		0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151400505	151400505	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151400505G>A	uc001eyd.2	-	6	1187	c.872C>T	c.(871-873)cCc>cTc	p.P291L	POGZ_uc021oyq.1_Missense_Mutation_p.P238L|POGZ_uc010pdb.2_Intron|POGZ_uc010pdc.2_Intron|POGZ_uc009wmv.2_Missense_Mutation_p.P196L|POGZ_uc001eyf.2_Missense_Mutation_p.P238L|POGZ_uc010pdd.2_Intron|POGZ_uc001eyg.2_Missense_Mutation_p.P291L	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	291					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGGTGGAGAGGGGAAGGAGGG	0.517000														82			21		0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985516	108985517	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:108985516_108985517CC>TT	uc001tng.3	-	1	806_807	c.643_644GG>AA	c.(643-645)ggg>AAg	p.G215K	TMEM119_uc021rdl.1_Missense_Mutation_p.G215K	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	215						integral to membrane		p.E214K(1)		large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						TTCCTGGTCCCCCTCCTGGCTG	0.688000														63			25		0	0	1	0	0
USP41	373856	broad.mit.edu	37	22	20729881	20729881	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:20729881G>A	uc011ahq.1	-	1	143	c.77C>T	c.(76-78)cCt>cTt	p.P26L	USP41_uc011ahp.1_5'Flank					RecName: Full=Putative ubiquitin carboxyl-terminal hydrolase 41;          EC=3.4.19.12; AltName: Full=Deubiquitinating enzyme 41; AltName: Full=Ubiquitin thiolesterase 41; AltName: Full=Ubiquitin-specific-processing protease 41;											endometrium(1)|kidney(1)|lung(2)|skin(1)	5						CATCTGGAAAGGGACGCTTCT	0.577000														19			5		0	0	1	0	0
ALDH9A1	223	broad.mit.edu	37	1	165652225	165652225	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:165652225G>A	uc001gdh.1	-	2	555	c.450C>T	c.(448-450)tcC>tcT	p.S150S	ALDH9A1_uc010pky.1_Silent_p.S56S|ALDH9A1_uc010pkz.1_Silent_p.S140S|ALDH9A1_uc010pla.1_Silent_p.S56S	NM_000696	NP_000687	P49189	AL9A1_HUMAN	Homo sapiens aldehyde dehydrogenase 9 family, member A1 (ALDH9A1), mRNA.	126				C -> Q (in Ref. 7; AA sequence).	carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	TACCAGCCATGGATGCAGCCA	0.502000														50			28		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785346	111785346	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:111785346G>A	uc001tsa.2	+	21	3832	c.3678G>A	c.(3676-3678)gaG>gaA	p.E1226E		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1226						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGCGCCGGGAGATGTTGGTGG	0.652000														128			36		0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169677869	169677869	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169677869C>T	uc010pls.2	-	0	129	c.20G>A	c.(19-21)aGa>aAa	p.R7K	C1orf112_uc001ggj.3_Intron|SELL_uc001ggk.3_Missense_Mutation_p.R67K|SELL_uc001ggl.2_Missense_Mutation_p.R67K	NM_000655	NP_000646	P14151	LYAM1_HUMAN	Homo sapiens selectin L (SELL), transcript variant 1, mRNA.	54					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					GCAGAATCTTCTAGCCCTTTG	0.438000														15			9		0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44151644	44151644	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44151644C>T	uc003tkb.3	+	15	2337	c.2032C>T	c.(2032-2034)Cag>Tag	p.Q678*	AEBP1_uc003tkc.4_Nonsense_Mutation_p.Q253*|AEBP1_uc003tkd.3_5'UTR	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	678	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GGTGGCAGCGCAGATGGTGGG	0.657000														28			16		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58551905	58551905	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58551905C>T	uc002qrc.1	+	3	705	c.458C>T	c.(457-459)cCa>cTa	p.P153L		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	153					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E152A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CAGAAAGAACCATCGCAGGTG	0.622000														115			29		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35832298	35832298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35832298C>T	uc010edt.3	+	7	1644	c.1560C>T	c.(1558-1560)caC>caT	p.H520H	CD22_uc010edu.3_Silent_p.H432H|CD22_uc010edv.3_Silent_p.H520H|CD22_uc002nzb.4_Silent_p.H343H|CD22_uc010xst.2_Silent_p.H348H|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	520	Ig-like C2-type 5.				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)	CCGAGATTCACTCTGGAAACT	0.552000														43			29		0	0	1	0	0
GPX3	2878	broad.mit.edu	37	5	150407532	150407532	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:150407532G>A	uc021yga.1	+	4	739	c.522G>A	c.(520-522)atG>atA	p.M174I		NM_002084	NP_002075	P22352	GPX3_HUMAN	Homo sapiens glutathione peroxidase 3 (plasma) (GPX3), mRNA.	174					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	GGGAACCCATGAAGGTTCACG	0.567000														60			19		0	0	1	0	0
PYGO1	26108	broad.mit.edu	37	15	55838477	55838477	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:55838477G>A	uc002adf.1	-	2	1004	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L	PYGO1_uc010bfl.1_Missense_Mutation_p.S335L	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.	335					Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GTCAGAAGACGAATGGCCATG	0.473000														213			96		0	0	1	0	0
C1orf200	644997	broad.mit.edu	37	1	9714487	9714487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:9714487G>A	uc001aqc.4	-	0	158	c.8C>T	c.(7-9)tCc>tTc	p.S3F	PIK3CD_uc001aqa.2_Intron|PIK3CD_uc001aqb.4_Intron					Homo sapiens chromosome 1 open reading frame 200 (C1orf200), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)		GGCAGACTGGGAGGGCATCAG	0.577000														50			23		0	0	1	0	0
TMEM61	199964	broad.mit.edu	37	1	55457675	55457675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55457675G>A	uc001cyd.3	+	2	806	c.532G>A	c.(532-534)Gag>Aag	p.E178K		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	Homo sapiens transmembrane protein 61 (TMEM61), mRNA.	178						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						ACCCAGCTATGAGAGCATCAG	0.622000														131			17		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829395	61829395	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61829395C>T	uc001jky.3	-	36	11582	c.11244G>A	c.(11242-11244)gtG>gtA	p.V3748V	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.	3748					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						AACTGGTCATCACCGCTTCTA	0.418000														156			60		0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76027102	76027102	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:76027102G>A	uc003ufb.3	-	5	949	c.601C>T	c.(601-603)Cga>Tga	p.R201*	ZP3_uc003ufc.4_5'UTR	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	201	SRCR 2.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						ATCTCCACTCGGCCCTGACAC	0.711000														14			4		0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89100768	89100768	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:89100768G>A	uc010fhg.3	+	12		c.1208G>A			ANKRD36BP2_uc010fhh.3_Non-coding_Transcript|ANKRD36BP2_uc010fhi.1_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 36B pseudogene 2 (ANKRD36BP2), non-coding RNA.																		TAAATGAATTGAATCATTTGA	0.333000														49			22		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28993086	28993086	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28993086C>T	uc002kwr.2	+	14	2843	c.2708C>T	c.(2707-2709)aCt>aTt	p.T903I	DSG4_uc002kwq.2_Missense_Mutation_p.T884I	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	884					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCAGGATTGACTCCCTCAGAA	0.428000														119			53		0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30794044	30794044	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30794044G>A	uc002dzs.1	-	2	1813	c.1605C>T	c.(1603-1605)atC>atT	p.I535I		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CCCTCTCATGGATCACCCGGT	0.697000														16			7		0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7723765	7723765	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7723765G>A	uc010rbf.2	-	3	402	c.402C>T	c.(400-402)tcC>tcT	p.S134S		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		GTTTCTTGGTGGAGAAATGTG	0.418000														19			16		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152382267	152382267	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152382267C>T	uc001ezx.2	-	2	1365	c.1291G>A	c.(1291-1293)Gga>Aga	p.G431R		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	431					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTGTCTCCCTGCCCTTCT	0.592000														70			34		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475258	140475258	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140475258G>A	uc003lil.3	+	0	1022	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	295	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAACGTTTCGATTAAGTGCA	0.428000														103			10		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43766210	43766210	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43766210G>A	uc002owd.4	-	2	610	c.511C>T	c.(511-513)Cct>Tct	p.P171S	PSG9_uc002owe.4_Missense_Mutation_p.P171S|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.P171S	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	171	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGAGTCTCAGGATCACAGATT	0.532000														275			111		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55198609	55198609	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55198609G>A	uc003pcm.1	+	2	269	c.183G>A	c.(181-183)agG>agA	p.R61R		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	61						integral to membrane	receptor activity	p.R61K(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCAAGATGAGGAATTCATCAT	0.358000														143			56		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28660122	28660122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28660122C>T	uc002kwl.4	-	9	1914	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E	DSC2_uc002kwk.4_Missense_Mutation_p.G487E	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	487	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GCTTGTTGTTCCCACTTCTGC	0.383000														97			46		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111470890	111470890	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:111470890G>A	uc003iab.4	+	16	2691	c.2349G>A	c.(2347-2349)agG>agA	p.R783R		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	783					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TAAATCTCAGGCTTCTGGTGT	0.388000														104			18		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718224	42718224	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:42718224G>A	uc021xxv.1	+	9	1103	c.966_splice	c.e9+1	p.K322_splice	GHR_uc003jmt.3_Splice_Site_p.K315_splice|GHR_uc003jmu.3_Splice_Site_p.K315_splice|GHR_uc003jmv.2_Splice_Site_p.K315_splice|GHR_uc021xxw.1_Splice_Site_p.K315_splice|GHR_uc021xxx.1_Splice_Site_p.K315_splice|GHR_uc021xxy.1_Splice_Site_p.K315_splice|GHR_uc021xxz.1_Splice_Site_p.K315_splice|GHR_uc021xya.1_Splice_Site_p.K315_splice|GHR_uc021xyb.1_Splice_Site|GHR_uc021xyc.1_Intron|GHR_uc011cpq.2_Splice_Site_p.K128_splice|GHR_uc021xyd.1_Splice_Site_p.K293_splice	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	315					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCTCCTCAAGGTAACTAATAA	0.328000														66			29		0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233274432	233274432	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233274432C>T	uc002vss.4	+	10	1502	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	483					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TCATGGCCTTCGCCGCCTGCC	0.751000														25			14		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175299218	175299218	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175299218C>T	uc001gkp.1	-	18	3866	c.3785G>A	c.(3784-3786)gGc>gAc	p.G1262D	TNR_uc009wwu.1_Missense_Mutation_p.G1262D	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1262	Fibrinogen C-terminal.				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)					ACCCGCAGTGCCGTTGTAGCT	0.592000														52			21		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158323823	158323823	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158323823G>A	uc001fse.3	+	0	338	c.45G>A	c.(43-45)ggG>ggA	p.G15G	CD1E_uc010pid.2_Intron|CD1E_uc010pie.2_Silent_p.G15G|CD1E_uc001fsh.3_Silent_p.G15G|CD1E_uc001fry.3_Silent_p.G15G|CD1E_uc001fsf.3_Silent_p.G15G|CD1E_uc001fsg.3_Silent_p.G15G|CD1E_uc009wsv.3_Silent_p.G15G|CD1E_uc001fsj.3_Silent_p.G15G|CD1E_uc001fsk.3_Silent_p.G15G|CD1E_uc001fsa.3_Silent_p.G15G|CD1E_uc001fsd.3_Silent_p.G15G|CD1E_uc001frz.3_Silent_p.G15G|CD1E_uc010pig.2_Silent_p.G15G|CD1E_uc001fsc.3_Silent_p.G15G|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	15			G -> E (in dbSNP:rs3180089).		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)					GCTGTCCTGGGGAAAATACAG	0.542000														59			6		0	0	1	0	0
SCN4B	6330	broad.mit.edu	37	11	118007795	118007795	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118007795C>T	uc001pse.3	-	4	876	c.634G>A	c.(634-636)Gag>Aag	p.E212K	SCN4B_uc010rxu.2_Missense_Mutation_p.E102K|SCN4B_uc010rxv.2_Missense_Mutation_p.E78K	NM_174934	NP_001135821	Q8IWT1	SCN4B_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, beta (SCN4B), transcript variant 1, mRNA.	212						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T211T(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		AAGCCGTTCTCCGTGTTGTCA	0.577000														32			9		0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987554	61987555	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61987554_61987555CC>TT	uc002jda.1	-	3	500_501	c.438_439GG>AA	c.(436-441)aaggac>aaAAac	p.D147N	CSHL1_uc002jcz.1_Missense_Mutation_p.D124N|CSHL1_uc002jdb.1_Missense_Mutation_p.D53N|CSHL1_uc002jdc.1_Missense_Mutation_p.D64N|CSHL1_uc002jdd.1_Missense_Mutation_p.D85N|CSHL1_uc021ubn.1_3'UTR	NM_022579	NP_001309	Q14406	CSHL_HUMAN	Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA.	147						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TCCTCTAGGTCCTTTAGGAGGT	0.589000														79			7		0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67053896	67053896	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:67053896G>A	uc003dmy.3	+	2	558	c.505G>A	c.(505-507)Gat>Aat	p.D169N	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	169	BACK.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GGAACTCGGAGATCGATCAAA	0.383000														79			20		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15646284	15646284	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15646284C>T	uc001ioc.1	-	19	2041	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	ITGA8_uc010qcb.1_Missense_Mutation_p.E666K	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	681					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.G680V(1)|p.G680G(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TATGCTCCTTCCCCTTCATTT	0.358000														60			29		0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703819	55703819	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55703819G>A	uc010ris.2	-	0	58	c.58C>T	c.(58-60)Cca>Tca	p.P20S		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGGCGAGTTGGAAAACCTAAT	0.373000														53			16		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98996696	98996696	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:98996696G>A	uc010fij.3	+	3	427	c.286G>A	c.(286-288)Gac>Aac	p.D96N	CNGA3_uc002syt.3_Missense_Mutation_p.D92N|CNGA3_uc002syu.3_Missense_Mutation_p.D92N			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	92					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCACCACCAGGACCAGGGACC	0.592000														96			32		0	0	1	0	0
UQCRHL	440567	broad.mit.edu	37	1	16133972	16133972	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16133972G>A	uc009vol.1	-	0	223	c.173C>T	c.(172-174)tCc>tTc	p.S58F		NM_001089591	NP_001083060			Homo sapiens ubiquinol-cytochrome c reductase hinge protein-like (UQCRHL), mRNA.																		TGATCGAGAGGATACATGCTC	0.478000														160			68		0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142001208	142001208	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142001208C>T	uc011kro.1	+	1	345	c.300C>T	c.(298-300)tcC>tcT	p.S100S	TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		AGATCCGGTCCACAAAGCTGG	0.453000														26			6		0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58920793	58920793	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58920793C>T	uc010rkp.2	+	4	1879	c.1652C>T	c.(1651-1653)tCa>tTa	p.S551L	FAM111A_uc010rkq.2_Missense_Mutation_p.S551L|FAM111A_uc010rkr.2_Missense_Mutation_p.S551L|FAM111A_uc001nno.3_Missense_Mutation_p.S551L|FAM111A_uc001nnp.3_Missense_Mutation_p.S551L|FAM111A_uc001nnq.3_Missense_Mutation_p.S551L	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	551					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TCAAAAGGTTCATTGGTGGCC	0.428000														131			59		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139636053	139636053	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:139636053G>A	uc011kqv.2	+	4	635	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	TBXAS1_uc003vvh.3_Missense_Mutation_p.E134K|TBXAS1_uc010lne.3_Missense_Mutation_p.E66K|TBXAS1_uc011kqu.2_Missense_Mutation_p.E85K|TBXAS1_uc003vvi.3_Missense_Mutation_p.E134K|TBXAS1_uc011kqw.2_Missense_Mutation_p.E114K|TBXAS1_uc003vvj.3_Missense_Mutation_p.E134K	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	133					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CAAAAGATGGGAAGAGGTCAG	0.498000														180			78		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234452365	234452365	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:234452365C>T	uc001hvy.1	+	4	991	c.846C>T	c.(844-846)ctC>ctT	p.L282L	SLC35F3_uc001hwa.1_Silent_p.L213L	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	213					transport	integral to membrane		p.L282I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CCGCCATCCTCGCCATCGCTG	0.577000														370			148		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961968	34961968	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:34961968G>A	uc004ddi.2	+	0	1056	c.1020G>A	c.(1018-1020)cgG>cgA	p.R340R		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	340										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ACACTCATCGGGTGTCCAGTT	0.587000														15			32		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80044325	80044325	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:80044325G>A	uc002kdu.3	-	21	3654	c.3537C>T	c.(3535-3537)ccC>ccT	p.P1179P	FASN_uc002kdw.1_Silent_p.P395P	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1179					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	ACAACAGCCGGGGCAGTTCCT	0.677000														31			17		0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88418324	88418324	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:88418324C>T	uc010qmk.1	+	4	768	c.541C>T	c.(541-543)Ctg>Ttg	p.L181L	OPN4_uc001kdp.3_Silent_p.L181L|OPN4_uc001kdq.3_Silent_p.L170L|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	170					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GGACCGCTACCTGGTAATCAC	0.612000														69			13		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73045805	73045805	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:73045805C>T	uc010izf.3	+	2	353	c.177C>T	c.(175-177)gtC>gtT	p.V59V	RGNEF_uc011csq.2_Silent_p.V59V|RGNEF_uc003kcy.1_Silent_p.V59V|RGNEF_uc021yam.1_Silent_p.V59V	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	59					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		AGTCCAGCGTCCCAGGTGAGG	0.483000														81			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077764	9077764	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9077764G>A	uc002mkp.3	-	2	9886	c.9682C>T	c.(9682-9684)Cct>Tct	p.P3228S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3229	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						GTCTTCCAAGGAGAATTTCTC	0.522000														139			41		0	0	1	0	0
MS4A6A	64231	broad.mit.edu	37	11	59949119	59949119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59949119C>T	uc010rla.2	-	2	639	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	MS4A6A_uc001noq.3_Missense_Mutation_p.E28K|MS4A6A_uc009ymv.3_Missense_Mutation_p.E28K|MS4A6A_uc001not.3_Missense_Mutation_p.E28K|MS4A6A_uc010rlb.2_Missense_Mutation_p.E28K	NM_001247999	NP_001234928	Q9H2W1	M4A6A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA.	28						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGGTGGGTTCGGGTTTCTCT	0.463000														127			57		0	0	1	0	0
LIMS1	3987	broad.mit.edu	37	2	109276190	109276190	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:109276190C>T	uc002teg.3	+	1	255	c.126C>T	c.(124-126)ttC>ttT	p.F42F	LIMS1_uc002tel.3_Silent_p.F54F|LIMS1_uc002teh.3_Silent_p.F42F|LIMS1_uc002tei.3_Silent_p.F46F|LIMS1_uc002tej.3_Silent_p.F79F|LIMS1_uc002tek.4_Silent_p.F104F	NM_004987	NP_004978	P48059	LIMS1_HUMAN	Homo sapiens LIM and senescent cell antigen-like domains 1 (LIMS1), transcript variant 2, mRNA.	42	LIM zinc-binding 1.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						CTCAGTGCTTCCAGCAGTTCC	0.577000														98			19		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234915531	234915531	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234915531G>A	uc002vvh.3	+	22	3205	c.3165G>A	c.(3163-3165)tgG>tgA	p.W1055*	TRPM8_uc010fyj.3_Nonsense_Mutation_p.W633*|TRPM8_uc010fyk.3_Non-coding_Transcript	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	1055						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTCTGGCATGGGAGGGTGTCA	0.398000														30			13		0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226549171	226549171	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:226549171G>A	uc001hqd.4	-	22	3206	c.3035C>T	c.(3034-3036)tCc>tTc	p.S1012F		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	1012	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTACCACAGGGAGGTCTTAAA	0.478000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						38			5		0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61553906	61553906	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:61553906G>A	uc010oos.2	+	2	330	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	NFIA_uc001czy.3_Missense_Mutation_p.R30Q|NFIA_uc001czw.3_Missense_Mutation_p.R38Q|NFIA_uc001czv.3_Missense_Mutation_p.R38Q	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	38					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GCCCGAAAACGAAAATACTTC	0.438000														172			33		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75679468	75679468	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75679468G>A	uc010oqz.1	-	20	2067	c.2001C>T	c.(1999-2001)gcC>gcT	p.A667A	SLC44A5_uc001dgt.2_Silent_p.A628A|SLC44A5_uc001dgs.2_Silent_p.A586A|SLC44A5_uc001dgr.2_Silent_p.A586A|SLC44A5_uc001dgu.3_Silent_p.A628A|SLC44A5_uc010ora.2_Silent_p.A622A|SLC44A5_uc010orb.2_Silent_p.A498A	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	628						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGAATAGGAAGGCCAGAACAC	0.368000														92			40		0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3659212	3659212	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:3659212C>T	uc001qmf.3	+	2	739	c.372C>T	c.(370-372)atC>atT	p.I124I	PRMT8_uc009zed.3_Silent_p.I115I|PRMT8_uc009zee.1_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	124					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GTACTGGGATCCTTTCCATGT	0.572000														91			49		0	0	1	0	0
MYADM	91663	broad.mit.edu	37	19	54377181	54377181	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54377181C>T	uc002qcm.3	+	2	546	c.398C>T	c.(397-399)tCg>tTg	p.S133L	MYADM_uc002qcl.3_Missense_Mutation_p.S133L|MYADM_uc002qcn.3_Missense_Mutation_p.S133L|MYADM_uc002qco.3_Missense_Mutation_p.S133L|MYADM_uc002qcp.3_Missense_Mutation_p.S133L|MYADM_uc021vbb.1_Missense_Mutation_p.S133L	NM_138373	NP_612382	Q96S97	MYADM_HUMAN	Homo sapiens myeloid-associated differentiation marker (MYADM), transcript variant 2, mRNA.	133	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		CACGGCCGTTCGCGGGACCAC	0.652000														101			34		0	0	1	0	0
RCBTB1	55213	broad.mit.edu	37	13	50115837	50115837	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:50115837G>A	uc001vde.1	-	10	1560	c.1299C>T	c.(1297-1299)gtC>gtT	p.V433V		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	433	BTB 1.				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GCGGCAGGTCGACTGTGTCTG	0.458000														50			30		0	0	1	0	0
PCDHB17	54661	broad.mit.edu	37	5	140537091	140537091	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140537091C>T	uc003lis.3	+	0	1512	c.1512C>T	c.(1510-1512)gtC>gtT	p.V504V						Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA.																		CCTCCCTGGTCTCCATCAACA	0.652000														197			58		0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33027990	33027990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33027990C>T	uc010geu.1	+	9	1025	c.833C>T	c.(832-834)tCt>tTt	p.S278F	ITCH_uc002xak.2_Missense_Mutation_p.S237F|ITCH_uc010zuj.1_Missense_Mutation_p.S127F	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.	278					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TCTGCCACTTCTGAAAGTGAT	0.358000														60			10		0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26112152	26112152	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:26112152C>T	uc001uqk.3	+	6	676	c.534C>T	c.(532-534)gtC>gtT	p.V178V	ATP8A2_uc010tdi.2_Silent_p.V138V|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Silent_p.V138V	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	138					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTGTGAAGGTCGTCAATGGGC	0.448000														55			17		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30703584	30703584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:30703584C>T	uc003xil.3	-	0	2950	c.2950G>A	c.(2950-2952)Gaa>Aaa	p.E984K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	984										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAAGATGCTTCATCACTTAGG	0.348000														141			37		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45404008	45404008	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45404008C>T	uc001zun.3	-	4	674	c.471G>A	c.(469-471)tgG>tgA	p.W157*	DUOX2_uc010bea.3_Nonsense_Mutation_p.W157*|DUOXA2_uc001zuo.3_5'Flank|DUOXA2_uc010beb.3_5'Flank	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	157	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCTCGGGGTCCCAGCGGCTCC	0.726000														13			5		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6062203	6062203	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:6062203C>T	uc010idb.1	-	10	2078	c.1592G>A	c.(1591-1593)aGg>aAg	p.R531K	JAKMIP1_uc010idc.1_Missense_Mutation_p.R346K|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Missense_Mutation_p.R531K|JAKMIP1_uc011bwc.2_Missense_Mutation_p.R366K|JAKMIP1_uc003giv.4_Missense_Mutation_p.R531K|JAKMIP1_uc010ide.3_Missense_Mutation_p.R531K	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	531	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGCCTGACACCTCAGCAGATC	0.527000														129			37		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43816702	43816702	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43816702C>T	uc001zrt.3	+	3	3498	c.3031C>T	c.(3031-3033)Cat>Tat	p.H1011Y		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1011						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CACACCCTTTCATCAGTCCCC	0.572000														74			32		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066477	73066477	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73066477G>A	uc004ebm.1	-	0		c.6112C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GGTCTTATGGGGTGGGCACTT	0.468000														17			31		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594181	179594181	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179594181C>T	uc021vsy.1	-	60	15195	c.14970G>A	c.(14968-14970)aaG>aaA	p.K4990K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K1651K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5917	Ig-like 30.						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)			CCCTGTTATTCTTCAGCCAAG	0.453000														85			50		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537744	55537744	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55537744C>T	uc003xsd.1	+	3	1450	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	434					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACACAGATATCATCCAGGGAA	0.448000														78			32		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400505	40400505	+	Silent	SNP	C	T	T	rs141680440	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:40400505C>T	uc003oph.1	-	1	813	c.348G>A	c.(346-348)ggG>ggA	p.G116G		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	116						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGTGTCCTCCCCAAGGCTTG	0.587000														31			18		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109704794	109704794	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:109704794G>A	uc010agk.2	+	24	3641	c.3019G>A	c.(3019-3021)Gaa>Aaa	p.E1007K	MYO16_uc001vqt.1_Missense_Mutation_p.E985K|MYO16_uc001vqu.1_Missense_Mutation_p.E785K|MYO16_uc010tjh.1_Missense_Mutation_p.E497K	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	985	Myosin head-like 2.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AATTATTGGAGAAAACAAGAA	0.313000														69			27		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196709907	196709907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:196709907C>T	uc001gtj.4	+	17	3181	c.2941C>T	c.(2941-2943)Cct>Tct	p.P981S	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	981	Sushi 16.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATGGTCTCACCCTCCATCATG	0.343000														66			18		0	0	1	0	0
LPAR5	57121	broad.mit.edu	37	12	6730183	6730183	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6730183G>A	uc009zer.2	-	1	513	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	LPAR5_uc001qps.2_Missense_Mutation_p.R78C|LPAR5_uc010sff.1_Missense_Mutation_p.R78C|LPAR5_uc021qub.1_Missense_Mutation_p.R78C	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN	Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.	78						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						TAGGAGAGACGAACGGGCAGC	0.632000														20			8		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248005088	248005088	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248005088C>T	uc001idn.1	-	0	111	c.111G>A	c.(109-111)ctG>ctA	p.L37L		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L37L(4)|p.L37Q(1)|p.C36Y(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTATAATGGTCAGGCAGTAGA	0.493000														36			11		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55940302	55940302	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55940302C>T	uc003pcs.3	-	18	2118	c.1886G>A	c.(1885-1887)gGa>gAa	p.G629E	COL21A1_uc010jzz.3_Missense_Mutation_p.G14E|COL21A1_uc011dxg.2_Missense_Mutation_p.G14E|COL21A1_uc011dxh.2_Missense_Mutation_p.G14E|COL21A1_uc003pcr.3_5'UTR	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	629	Collagen-like 3.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCTTTTTTTCCTTGCTGTCC	0.353000														4			3		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52942138	52942138	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52942138C>T	uc002pzk.3	+	3	1531	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.F475F	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GCAAGGTCTTCAGTCAGAATT	0.418000														19			9		0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131702715	131702715	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131702715C>T	uc004bwo.2	+	9	1458	c.525C>T	c.(523-525)atC>atT	p.I175I	NUP188_uc004bwn.2_Missense_Mutation_p.S168L|NUP188_uc004bwm.2_Non-coding_Transcript|NUP188_uc004bwp.2_Silent_p.I154I|NUP188_uc004bwq.1_5'Flank	NM_001100876	NP_001094346	Q5SRE5	NU188_HUMAN	Homo sapiens phytanoyl-CoA dioxygenase domain containing 1 (PHYHD1), transcript variant 1, mRNA.	0					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCGTGTGGATCGCAGTGGAGG	0.647000														77			23		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7531715	7531715	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7531715G>A	uc010sge.2	-	8	2286	c.2260C>T	c.(2260-2262)Cat>Tat	p.H754Y	CD163L1_uc001qsy.3_Missense_Mutation_p.H744Y	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	744	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCTGTGAAATGAGGCTCTCTG	0.478000														121			29		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999077	46999077	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:46999077G>A	uc001jec.3	+	2	332	c.197G>A	c.(196-198)gGg>gAg	p.G66E	GPRIN2_uc021ppt.1_Missense_Mutation_p.G66E	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	66										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GAGGAAGAGGGGAACCCGCCT	0.692000														80			11		0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125289062	125289062	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125289062C>T	uc004bmn.1	-	0	511	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGAGCAATTTCCCCAGTCACA	0.502000														35			9		0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27419836	27419836	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:27419836G>A	uc003njj.3	-	4	2313	c.1502C>T	c.(1501-1503)cCc>cTc	p.P501L	ZNF184_uc010jqv.3_Missense_Mutation_p.P501L|ZNF184_uc003nji.3_Missense_Mutation_p.P501L	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K500E(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GCATTCAAAGGGCTTTTCTCT	0.388000														81			19		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34663471	34663471	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34663471C>T	uc001bxt.3	+	1	1804	c.966C>T	c.(964-966)tcC>tcT	p.S322S	C1orf94_uc001bxs.4_Silent_p.S132S	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	132							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGATCTGTTCCAAGCCCAAGG	0.612000														35			18		0	0	1	0	0
NKAIN3	286183	broad.mit.edu	37	8	63659578	63659578	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:63659578C>T	uc010lyq.1	+	3	493	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA.	121						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				AGTGCTGCCTCCCTCAGCCCA	0.517000														23			13		0	0	1	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32503507	32503507	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32503507G>T	uc001bub.3	+	5	1083	c.977G>T	c.(976-978)gGt>gTt	p.G326V	KHDRBS1_uc001bua.1_Missense_Mutation_p.G287V|KHDRBS1_uc001buc.1_Non-coding_Transcript	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 1 (KHDRBS1), mRNA.	326	Arg/Gly-rich.				G2/M transition of mitotic cell cycle|cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ATCACCAGAGGTGCCACTGTG	0.577000														143			66		7.59065e-32	7.63857e-32	1	1	0
CAP2	10486	broad.mit.edu	37	6	17507491	17507491	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:17507491A>T	uc003ncb.3	+	4	635	c.392A>T	c.(391-393)aAt>aTt	p.N131I	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.N105I|CAP2_uc011djb.2_Missense_Mutation_p.N131I|CAP2_uc011djc.2_Intron|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	131					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AACATGTTTAATCATCTTTCG	0.488000														68			35		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43322566	43322566	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43322566G>A	uc003oux.3	-	3	2584	c.2506C>T	c.(2506-2508)Cgt>Tgt	p.R836C	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	836					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGGATCACACGAAGATTGGGA	0.527000														101			11		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95380460	95380460	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95380460C>T	uc001kiu.4	+	1	690	c.552C>T	c.(550-552)atC>atT	p.I184I		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	184	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.P183Q(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CAACCCCGATCGTGGTGGGCA	0.443000														84			33		0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78376586	78376586	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:78376586G>A	uc003kft.3	+	3	394	c.335G>A	c.(334-336)gGg>gAg	p.G112E	BHMT2_uc011cth.2_Intron	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA.	112	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GTAGCAGGGGGGATCTGCCAG	0.453000														97			35		0	0	1	0	0
SWI5	375757	broad.mit.edu	37	9	131038524	131038524	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131038524C>T	uc004bup.3	+	0	100	c.100C>T	c.(100-102)Cct>Tct	p.P34S	GOLGA2_uc011maw.2_5'Flank|GOLGA2_uc010mxw.3_5'Flank|GOLGA2_uc004bul.1_5'Flank|SWI5_uc010mxx.1_Missense_Mutation_p.P34S	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	Homo sapiens SWI5 recombination repair homolog (yeast) (SWI5), mRNA.	34					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										GGCCGGCTTTCCTTGGGTGCG	0.682000														15			12		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121420796	121420796	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121420796G>A	uc001pxx.3	+	15	2309	c.2180_splice	c.e15+1	p.G727_splice		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	727					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GAGAACGAGAGGGTATGTATC	0.502000														57			25		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665972	19665972	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:19665972G>A	uc002wrl.3	+	11	1488	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	431						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						cgaggatgatgatgaagGACC	0.512000														62			31		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415962	105415962	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105415962C>T	uc010axc.1	-	6	5946	c.5826G>A	c.(5824-5826)gtG>gtA	p.V1942V	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.V1842V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1942						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGGGGGCTGTCACTTCCGCCT	0.612000														250			102		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372580	126372580	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126372580G>A	uc003ifj.4	+	8	10409	c.10409G>A	c.(10408-10410)cGa>cAa	p.R3470Q	FAT4_uc011cgp.2_Missense_Mutation_p.R1768Q|FAT4_uc003ifi.1_Missense_Mutation_p.R948Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3470	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAATTAGATCGAGAAACCCTT	0.443000														118			52		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167823624	167823624	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167823624C>T	uc001ger.3	-	17	2573	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K	ADCY10_uc010plj.2_Missense_Mutation_p.E606K|ADCY10_uc009wvk.3_Missense_Mutation_p.E667K|ADCY10_uc009wvl.3_Missense_Mutation_p.E758K	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	759					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTTGTCTTTTCCTCAGACTCC	0.438000														121			39		0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56108789	56108789	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:56108789G>A	uc002rzi.3	-	5	1099	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	EFEMP1_uc002rzj.3_Nonsense_Mutation_p.Q200*|EFEMP1_uc010ypc.2_Nonsense_Mutation_p.Q142*	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	200	EGF-like 2; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGAGGGCACTGACATGCAAAG	0.517000														83			21		0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76957805	76957805	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:76957805C>T	uc001xsr.3	+	7	1174	c.803C>T	c.(802-804)tCc>tTc	p.S268F	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.S268F	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TCAAGCCTCTCCCTGGGGGAC	0.647000														10			3		0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444290	20444290	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20444290C>T	uc010tkx.2	+	0	613	c.613C>T	c.(613-615)Ctt>Ttt	p.L205F		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTCTGTGACCTTCCTCTAGT	0.418000														191			85		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875795	247875795	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247875795C>T	uc001idj.1	-	0	263	c.263G>A	c.(262-264)aGa>aAa	p.R88K		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGTCTGACTTCTCCCCAGTAG	0.478000														79			33		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240637445	240637445	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240637445G>A	uc010pye.2	+	18	5397	c.5172G>A	c.(5170-5172)atG>atA	p.M1724I	FMN2_uc010pyd.2_Missense_Mutation_p.M1720I|FMN2_uc010pyg.2_Missense_Mutation_p.M316I|FMN2_uc001hyr.3_Non-coding_Transcript	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1720					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGATAAGCATGAAAACTTGAA	0.338000														32			7		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221357	161221357	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:161221357C>T	uc011bpb.2	+	3	1061	c.1061C>T	c.(1060-1062)cCt>cTt	p.P354L		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	354	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AAGCCATTTCCTCCTCCTAAC	0.498000														30			15		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848098	215848098	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:215848098C>T	uc001hku.1	-	62	13542	c.13155G>A	c.(13153-13155)aaG>aaA	p.K4385K		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4385	Fibronectin type-III 29.				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)		ATTTAGTAATCTTTCCATTTT	0.478000										HNSCC(13;0.011)				71			7		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139719887	139719887	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:139719887C>T	uc011kqv.2	+	13	1966	c.1731C>T	c.(1729-1731)atC>atT	p.I577I	TBXAS1_uc003vvh.3_Silent_p.I531I|TBXAS1_uc010lne.3_Silent_p.I463I|TBXAS1_uc003vvi.3_Silent_p.I531I|TBXAS1_uc011kqw.2_Silent_p.I511I|TBXAS1_uc003vvj.3_3'UTR	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	530					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					ATATCAAGATCGTATCCCGCT	0.428000														47			19		0	0	1	0	0
HOXD9	3235	broad.mit.edu	37	2	176988257	176988257	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:176988257C>T	uc010zex.2	+	0	845	c.761C>T	c.(760-762)tCg>tTg	p.S254L		NM_014213	NP_055028	P28356	HXD9_HUMAN	Homo sapiens homeobox D9 (HOXD9), mRNA.	254						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CCAGGCTGTTCGCTGAAGGAG	0.627000														14			13		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14567016	14567016	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:14567016G>A	uc021wtn.1	-	3	476	c.476C>T	c.(475-477)aCt>aTt	p.T159I	GRIP2_uc003byu.1_Silent_p.D64D|GRIP2_uc003byv.1_Missense_Mutation_p.T62I	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	62	PDZ 2.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						ACCTGAGATAGTCAGGCCCAG	0.617000														59			27		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825080	74825080	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:74825080C>T	uc021rwl.1	+	0	1594	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C	VRTN_uc001xpw.4_Missense_Mutation_p.R532C	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	532					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						CTTCCGCCTCCGCTACCCCAG	0.647000														148			52		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23379202	23379202	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23379202C>T	uc002dln.3	+	4	978	c.802C>T	c.(802-804)Cac>Tac	p.H268Y		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	268					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CTTCTACCCTCACTATGGCAA	0.527000														132			35		0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72903596	72903596	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:72903596G>A	uc003tyc.3	-	5	1171	c.819C>T	c.(817-819)gtC>gtT	p.V273V		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	273	Mediates the tyrosine-protein kinase activity.				ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	p.V273V(2)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CATCTTCTACGACCCAAGGTG	0.423000														105			24		0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40913356	40913356	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40913356C>T	uc010bbs.1	+	10	1133	c.972C>T	c.(970-972)tcC>tcT	p.S324S	CASC5_uc010ucq.1_Silent_p.S148S|CASC5_uc001zme.3_Silent_p.S298S|CASC5_uc010bbt.1_Silent_p.S298S	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	324	Interaction with BUB1 and BUB1B.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTCCCACATCCAGTGAGACCA	0.363000														64			19		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284752	52284753	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52284752_52284753CC>TT	uc001rzd.3	+	4	1200_1201	c.1022_1023CC>TT	c.(1021-1023)tcc>tTT	p.S341F	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.S216F|ANKRD33_uc001rze.3_Missense_Mutation_p.S237F|ANKRD33_uc001rzg.4_Missense_Mutation_p.S143F|ANKRD33_uc001rzi.4_Missense_Mutation_p.S216F	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	216								p.S341S(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CGAAGCAAGTCCGTGCCAGAGC	0.658000														27			10		0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6741093	6741093	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6741093G>A	uc001aof.2	-	1	183	c.77C>T	c.(76-78)tCt>tTt	p.S26F	DNAJC11_uc001aog.2_Missense_Mutation_p.S26F|DNAJC11_uc010nzu.1_5'UTR	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	26	J.				protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTTCAGAAGAGGCCTAAAG	0.453000														90			10		0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108278674	108278674	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108278674G>A	uc003dxb.4	-	15	2212	c.1943C>T	c.(1942-1944)gCt>gTt	p.A648V		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	648						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGGGCTAGAGCTTTTGTTTC	0.358000														46			15		0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005533	118005533	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:118005533C>T	uc003ibv.4	-	0	1204	c.1017G>A	c.(1015-1017)tcG>tcA	p.S339S		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	339					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TAGAAGATCTCGACCGTTTCT	0.403000														169			81		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14543004	14543004	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:14543004C>T	uc010dln.3	-	0	596	c.142G>A	c.(142-144)Gac>Aac	p.D48N	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	48										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCGTCGTGGTCTCCAGAAGTG	0.587000														299			58		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36036043	36036043	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:36036043G>A	uc003jjz.2	-	6	1461	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	UGT3A2_uc011cos.2_Silent_p.I409I|UGT3A2_uc011cot.2_Silent_p.I141I	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	443						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGGAGCGCAGGATGACACTGG	0.577000														38			11		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488233	24488233	+	Silent	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:24488233T>G	uc003jgr.2	-	11	2412	c.1906A>C	c.(1906-1908)Aga>Cga	p.R636R	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	636					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		TTTCGCTGTCTTTTCAGAGCT	0.393000										HNSCC(23;0.051)				55			24		0	0	1	0	0
C1orf109	54955	broad.mit.edu	37	1	38155359	38155359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:38155359G>A	uc010oig.2	-	1	488	c.383C>T	c.(382-384)gCc>gTc	p.A128V	C1orf109_uc001cbo.3_Missense_Mutation_p.A127V|C1orf109_uc001cbp.3_Missense_Mutation_p.A65V|C1orf109_uc001cbq.1_Missense_Mutation_p.A65V|CDCA8_uc001cbr.3_5'Flank|CDCA8_uc001cbs.3_5'Flank	NM_017850	NP_060320	Q9NX04	CA109_HUMAN	Homo sapiens chromosome 1 open reading frame 109 (C1orf109), mRNA.	65										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				ATCTGGGAAGGCCCGAAGCGC	0.622000														81			41		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38954452	38954452	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38954452G>A	uc002oit.3	+	21	2878	c.2748G>A	c.(2746-2748)gaG>gaA	p.E916E	RYR1_uc002oiu.3_Silent_p.E916E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	916	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAGAGCCTGAGAGGAACTACA	0.622000														95			38		0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22202047	22202047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:22202047G>A	uc003svg.3	-	12	1250	c.937C>T	c.(937-939)Cct>Tct	p.P313S	RAPGEF5_uc011jyl.1_5'UTR	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	163					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCATCTTCAGGTAACCAGTCT	0.348000														59			20		0	0	1	0	0
PEX26	55670	broad.mit.edu	37	22	18562684	18562684	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:18562684C>T	uc002znp.4	+	2	484	c.275C>T	c.(274-276)gCc>gTc	p.A92V	PEX26_uc002znt.3_Missense_Mutation_p.A92V|PEX26_uc002znq.4_Missense_Mutation_p.A92V|Em:AC008101.5_uc002zns.3_5'Flank	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN	Homo sapiens peroxisomal biogenesis factor 26 (PEX26), transcript variant 1, mRNA.	92					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGGATCCAGGCCCTGGCAGAA	0.522000														107			34		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27151188	27151188	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27151188G>A	uc002rhu.4	+	4	824	c.666G>A	c.(664-666)gaG>gaA	p.E222E	DPYSL5_uc002rhv.4_Silent_p.E222E|DPYSL5_uc021vev.1_Silent_p.E222E	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	222					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGTCCAGAGGAGGTGAGAA	0.478000														32			8		0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2718585	2718585	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:2718585G>A	uc003zho.2	+	0	1060	c.846G>A	c.(844-846)gtG>gtA	p.V282V		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	282						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TCAACACCGTGGAGGAGATGC	0.672000														16			3		0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626345	49626345	+	Silent	SNP	C	T	T	rs140916173		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:49626345C>T	uc002xwa.4	-	1	826	c.531G>A	c.(529-531)gcG>gcA	p.A177A	KCNG1_uc002xwb.3_Silent_p.A177A	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	177						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A177V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCACCATCTCCGCGAACTCCT	0.701000														94			22		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99898318	99898318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:99898318C>T	uc001tge.2	-	9	1791	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	ANKS1B_uc001tgf.2_Missense_Mutation_p.M38I|ANKS1B_uc009ztt.1_Missense_Mutation_p.M424I	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	458						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CAGCTGTGTCCATGAGATCAC	0.393000														28			22		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896915	48896915	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:48896915G>A	uc002rwp.2	+	8	3259	c.3145G>A	c.(3145-3147)Gaa>Aaa	p.E1049K	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.E1049K|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.E1002K|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.E345K|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.E311K	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	1002					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGATATTGGTGAAATAATTCA	0.338000														137			58		0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48134543	48134543	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48134543C>T	uc001rpz.4	-	20	2663	c.2113G>A	c.(2113-2115)Gag>Aag	p.E705K	AL831948_uc001rpv.3_Non-coding_Transcript|RAPGEF3_uc001rpw.3_5'UTR|RAPGEF3_uc001rpx.3_Missense_Mutation_p.E120K|RAPGEF3_uc010sln.2_Missense_Mutation_p.E178K|RAPGEF3_uc001rpy.3_Intron|RAPGEF3_uc009zkp.3_Missense_Mutation_p.E663K|RAPGEF3_uc009zkq.3_Missense_Mutation_p.E663K	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	663					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ATGAAGCGCTCCAGGTTGGCG	0.657000														57			18		0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579461	55579461	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55579461G>A	uc001nhw.1	+	0	519	c.519G>A	c.(517-519)gtG>gtA	p.V173V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				GATCTAATGTGATTAACCACT	0.453000														223			80		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168108280	168108280	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:168108280G>A	uc002udx.3	+	8	10467	c.10378G>A	c.(10378-10380)Gat>Aat	p.D3460N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D3285N|XIRP2_uc010fpq.3_Missense_Mutation_p.D3238N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3285					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACCTATGAGGATGTCATTGC	0.398000														44			16		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229235	21229235	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21229235C>T	uc002red.3	-	25	10633	c.10505G>A	c.(10504-10506)gGt>gAt	p.G3502D		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3502	Heparin-binding.				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.G3502C(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)	AAGAACCGAACCCTTGACATC	0.468000														101			47		0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48160882	48160882	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:48160882C>T	uc002xut.3	-	3	535	c.481G>A	c.(481-483)Gag>Aag	p.E161K	PTGIS_uc010zyi.2_Missense_Mutation_p.E22K	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	161					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	AGACCCATCTCGTGCCAGCCA	0.597000														89			25		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18391067	18391067	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:18391067G>A	uc003cbh.3	-	10	3622	c.1887C>T	c.(1885-1887)ccC>ccT	p.P629P	SATB1_uc003cbi.3_Silent_p.P661P|SATB1_uc003cbj.3_Silent_p.P629P	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	629					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						AGGCCACCGTGGGTTGCCGTG	0.607000														44			20		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10769819	10769819	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:10769819C>T	uc002czz.1	-	4	1155	c.1083G>A	c.(1081-1083)gcG>gcA	p.A361A		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	361					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGCTCACCTTCGCCAGCTGCG	0.592000														81			9		0	0	1	0	0
GSTA3	2940	broad.mit.edu	37	6	52761661	52761661	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:52761661C>T	uc003pbb.3	-	6	691	c.612G>A	c.(610-612)agG>agA	p.R204R	GSTA3_uc010jzq.3_Silent_p.R148R	NM_000847	NP_000838	Q16772	GSTA3_HUMAN	Homo sapiens glutathione S-transferase alpha 3 (GSTA3), mRNA.	204	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	CGGGAGGCTTCCTTGGGCTGC	0.473000														111			29		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404312	197404312	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197404312C>T	uc001gtz.3	+	8	3528	c.3319C>T	c.(3319-3321)Ctc>Ttc	p.L1107F	CRB1_uc010poz.2_Missense_Mutation_p.L1083F|CRB1_uc009wza.3_Missense_Mutation_p.L995F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.L588F|CRB1_uc001gub.1_Missense_Mutation_p.L756F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1107	Laminin G-like 3.		L -> P (in LCA8).|L -> R (in LCA8).		cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGGCATTTATCTCTCTTACTT	0.368000														97			28		0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13538855	13538855	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:13538855G>A	uc001imm.2	-	3	623	c.326C>T	c.(325-327)tCa>tTa	p.S109L	BEND7_uc001imo.4_Missense_Mutation_p.S122L	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	161							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						ACAGCAGTTTGATCCAGCTGA	0.378000														54			21		0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159499093	159499093	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:159499093C>T	uc002tzv.3	+	10	2051	c.1791C>T	c.(1789-1791)ctC>ctT	p.L597L	PKP4_uc002tzt.1_Silent_p.L449L|PKP4_uc002tzu.3_Silent_p.L597L|PKP4_uc002tzw.3_Silent_p.L597L|PKP4_uc002tzx.3_Silent_p.L254L|PKP4_uc002tzy.1_Silent_p.L255L|PKP4_uc002tzz.1_Silent_p.L595L|PKP4_uc002uaa.3_Silent_p.L449L	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	597					cell adhesion	desmosome	protein binding	p.L597F(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTCGAAACCTCGTTTTTGGCA	0.433000										HNSCC(62;0.18)				106			25		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106924104	106924104	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106924104C>T	uc001kyi.1	+	11	2003	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	592						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTGGTGTGTTCATCTCCTCCG	0.438000														49			24		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98039469	98039469	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:98039469C>T	uc001drv.3	-	10	1323	c.1186G>A	c.(1186-1188)Gtt>Att	p.V396I		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	396					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTTACTATAACCTTCCGTGGG	0.388000														74			24		0	0	1	0	0
ZNF579	163033	broad.mit.edu	37	19	56090169	56090169	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56090169G>A	uc002qlh.3	-	1	890	c.837C>T	c.(835-837)ttC>ttT	p.F279F	ZNF579_uc021vby.1_Silent_p.F279F	NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	Homo sapiens zinc finger protein 579 (ZNF579), mRNA.	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		AGGGCCTGGCGAAGGCCTTGA	0.721000														27			10		0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144408461	144408461	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144408461G>A	uc003yxz.3	-	3	433	c.414C>T	c.(412-414)ttC>ttT	p.F138F	TOP1MT_uc011lkd.2_Silent_p.F40F|TOP1MT_uc011lke.2_Silent_p.F40F|TOP1MT_uc011lkf.2_5'Flank|TOP1MT_uc010mfd.1_5'UTR	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	138					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GGATCTCCGTGAAGTCACACT	0.557000														103			62		0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27528597	27528597	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:27528597G>A	uc003xga.1	+	5	1691	c.1550G>A	c.(1549-1551)gGg>gAg	p.G517E	SCARA3_uc003xgb.1_Intron	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	517					UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GGCCCTCGAGGGTTCCCAGGC	0.687000														20			5		0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30864450	30864450	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30864450C>T	uc003nrv.3	+	11	1719	c.1677C>T	c.(1675-1677)ccC>ccT	p.P559P	DDR1_uc010jse.3_Silent_p.P522P|DDR1_uc003nrq.3_Silent_p.P522P|DDR1_uc003nrr.3_Silent_p.P559P|DDR1_uc003nrs.3_Silent_p.P559P|DDR1_uc003nrt.3_Silent_p.P522P|DDR1_uc011dms.2_Silent_p.P540P|DDR1_uc003nru.3_Silent_p.P522P|DDR1_uc003nry.2_Intron|DDR1_uc003nrx.2_Intron|DDR1_uc003nrw.1_Intron	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	559	Gly/Pro-rich.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGCTTCTGCCCCCACCTCCCC	0.632000														68			34		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106963149	106963149	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106963149C>T	uc021ser.1	-	268		c.10581G>A								Parts of antibodies, mostly variable regions.																		AAGGTGTATCCGGAAGCCTTG	0.572000														101			53		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48797262	48797262	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:48797262G>A	uc001zwx.2	-	15	2315	c.1920C>T	c.(1918-1920)ttC>ttT	p.F640F		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	640	EGF-like 10; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCAGTCCAGGGAAGCATTCAC	0.502000														132			50		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49000670	49000670	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49000670C>T	uc002pjk.3	-	11	3743	c.3743G>A	c.(3742-3744)gGg>gAg	p.G1248E		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTCGCTGTTCCCCTGAGGGGG	0.652000														50			22		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40935959	40935959	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:40935959C>T	uc002ibj.3	+	2	864	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	WNK4_uc010wgx.2_5'UTR|WNK4_uc002ibk.1_Silent_p.L38L|WNK4_uc010wgy.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	266	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCCAGGTACCTGAGGCGGTT	0.672000														18			5		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62330131	62330131	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62330131G>A	uc001dab.3	+	19	2775	c.2661G>A	c.(2659-2661)gaG>gaA	p.E887E	INADL_uc009waf.1_Silent_p.E887E|INADL_uc001daa.2_Silent_p.E887E|INADL_uc001dad.3_Silent_p.E584E|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	887					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CATCCATGGAGTTGTATCCCT	0.418000														89			29		0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	50008373	50008373	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:50008373G>A	uc002itv.4	-	3	1010	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	CA10_uc002itw.4_Missense_Mutation_p.R86C|CA10_uc002itx.4_Missense_Mutation_p.R86C|CA10_uc002ity.4_Missense_Mutation_p.R86C|CA10_uc002itz.2_Missense_Mutation_p.R86C	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	86					brain development			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GTGTTGATGCGAAGAGGTGTC	0.502000														203			68		0	0	1	0	0
PION	54103	broad.mit.edu	37	7	77006657	77006657	+	Silent	SNP	G	A	A	rs138204887	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:77006657G>A	uc003ugf.3	-	8	706	c.627C>T	c.(625-627)ttC>ttT	p.F209F	PION_uc003ugg.1_5'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	209					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGCCCAAACGAAATCCTCAG	0.303000														244			31		0	0	1	0	0
KRT19P2	160313	broad.mit.edu	37	12	95228202	95228202	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:95228202G>A	uc001tdk.2	+	0		c.29G>A								Homo sapiens keratin 19 pseudogene 2 (KRT19P2), non-coding RNA.																		CAGGACCATCGAGGACCTGCG	0.552000														41			12		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025627	16025627	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16025627G>A	uc002nbu.2	-	9	1230	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	CYP4F11_uc010eab.1_Silent_p.I398I|CYP4F11_uc002nbt.2_Silent_p.I398I	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	398					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AACATCGGGAGATGACCGGGA	0.627000														126			21		0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72399970	72399970	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:72399970C>T	uc010iic.3	+	17	2424	c.2307C>T	c.(2305-2307)ttC>ttT	p.F769F	SLC4A4_uc003hfy.3_Silent_p.F769F|SLC4A4_uc010iib.3_Silent_p.F769F|SLC4A4_uc003hfz.3_Silent_p.F769F|SLC4A4_uc003hgc.4_Silent_p.F725F|SLC4A4_uc010iid.3_5'UTR	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	769	Interaction with CA4.					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.F725F(2)|p.F769F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GAGGTTGGTTCGTTCCACCGT	0.423000														47			19		0	0	1	0	0
HOXB13	10481	broad.mit.edu	37	17	46805604	46805604	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:46805604C>T	uc002ioa.3	-	0	508	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	118					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GGGTACTCTTCCCCGGCCGTG	0.652000														99			51		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573509	140573509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140573509G>A	uc003lix.3	+	0	1558	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	462	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.R461C(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGTCCGCGAGAACAACAG	0.627000														185			65		0	0	1	0	0
RARRES3	5920	broad.mit.edu	37	11	63313725	63313725	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63313725C>T	uc001nxf.4	+	3	560	c.492C>T	c.(490-492)gcC>gcT	p.A164A		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 3 (RARRES3), mRNA.	164					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						AAGCGACAGCCTGAAGCAGCC	0.547000														100			44		0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52439273	52439273	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52439273G>A	uc003ddx.3	-	10	1084	c.969C>T	c.(967-969)gcC>gcT	p.A323A	BAP1_uc003ddw.3_5'Flank|BAP1_uc010hmg.3_5'Flank|BAP1_uc010hmh.3_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	323					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.A323fs*71(2)|p.P324fs*7(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TGTGGGATGGGGCTTGTGCGC	0.592000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""								136			59		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581366	140581366	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140581366C>T	uc003liy.3	+	0	2019	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	673					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)			ACCTGCCGCTCCCTGAGGCGG	0.682000														144			41		0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233323688	233323688	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233323688G>A	uc002vst.4	+	10	1496	c.1419G>A	c.(1417-1419)gaG>gaA	p.E473E	ALPI_uc002vsu.4_Silent_p.E384E	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	473					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GTGTGCAGGAGCAGAGCTTCG	0.711000														14			6		0	0	1	0	0
SPATA22	84690	broad.mit.edu	37	17	3346535	3346535	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3346535G>A	uc002fvm.3	-	7	1071	c.833C>T	c.(832-834)cCa>cTa	p.P278L	SPATA22_uc010vrg.2_Missense_Mutation_p.P262L|SPATA22_uc010vrf.2_Intron|SPATA22_uc002fvo.3_Missense_Mutation_p.P278L|SPATA22_uc002fvn.3_Missense_Mutation_p.P278L|SPATA22_uc002fvp.3_Missense_Mutation_p.P278L|SPATA22_uc010ckf.3_Missense_Mutation_p.P235L	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	Homo sapiens spermatogenesis associated 22 (SPATA22), transcript variant 2, mRNA.	278										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						CGAATAATATGGGCCAGGTGT	0.353000														25			14		0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79629673	79629673	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:79629673C>T	uc003ybd.3	+	8	1025	c.923C>T	c.(922-924)cCt>cTt	p.P308L		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	Homo sapiens family with sequence similarity 164, member A (FAM164A), mRNA.	308																	ACTAAATACCCTGTAGAATGG	0.368000														132			59		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142231686	142231686	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:142231686G>A	uc003ywd.1	-	1	575	c.267C>T	c.(265-267)ggC>ggT	p.G89G	SLC45A4_uc003ywc.1_Silent_p.G89G|SLC45A4_uc010meq.1_Silent_p.G87G	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	140					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGATGGCAGAGCCGTTAAGGA	0.607000														65			20		0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34400213	34400213	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:34400213G>A	uc010qej.2	-	24	4285	c.3955C>T	c.(3955-3957)Ccc>Tcc	p.P1319S	PARD3_uc010qep.2_Missense_Mutation_p.P1229S|PARD3_uc010qeq.2_Missense_Mutation_p.P1207S|PARD3_uc010qek.2_Missense_Mutation_p.P1316S|PARD3_uc010qel.2_Missense_Mutation_p.P1282S|PARD3_uc010qem.2_Missense_Mutation_p.P1303S|PARD3_uc010qen.2_Missense_Mutation_p.P1273S|PARD3_uc010qeo.2_Missense_Mutation_p.P1236S	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	1319					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.D1318E(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCGTAACTGGGGTCCTGGACT	0.597000														61			15		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240871	3240871	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:3240871G>A	uc004crg.4	-	4	3012	c.2855C>T	c.(2854-2856)tCa>tTa	p.S952L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	952						extracellular region		p.S951L(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)				GGGCTCTGGTGACGATCCAAC	0.507000														28			17		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73474369	73474369	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:73474369G>A	uc003tzw.3	+	22	1677	c.1586G>A	c.(1585-1587)gGa>gAa	p.G529E	ELN_uc003tzn.3_Missense_Mutation_p.G523E|ELN_uc003tzy.3_Missense_Mutation_p.G499E|ELN_uc003tzz.3_Missense_Mutation_p.G442E|ELN_uc003tzo.3_Missense_Mutation_p.G490E|ELN_uc003tzp.3_Missense_Mutation_p.G434E|ELN_uc003tzq.3_Missense_Mutation_p.G387E|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Missense_Mutation_p.G504E|ELN_uc003tzt.3_Missense_Mutation_p.G528E|ELN_uc003tzu.3_Missense_Mutation_p.G509E|ELN_uc003tzv.3_Missense_Mutation_p.G494E|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G513E|ELN_uc011kff.2_Missense_Mutation_p.G523E	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	552	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGCCCTGGTGGAGTTGCAGGT	0.642000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							113			10		0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434244	72434244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:72434244C>T	uc004ebi.3	-	0	467	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	29					nucleosome assembly	chromatin assembly complex		p.G28R(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCCAGATGTTCCCCGAGCCCT	0.562000														21			26		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121503	38121503	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38121503C>T	uc003atr.3	+	6	3211	c.2940C>T	c.(2938-2940)tcC>tcT	p.S980S	TRIOBP_uc003atu.3_Silent_p.S808S|TRIOBP_uc003atq.1_Silent_p.S980S|TRIOBP_uc003ats.1_Silent_p.S808S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	980					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCTCTTCCTCCCATAACCCAG	0.642000														232			82		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111195390	111195390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:111195390C>T	uc004epl.1	-	1	1178	c.259G>A	c.(259-261)Gag>Aag	p.E87K	TRPC5_uc004epm.1_Missense_Mutation_p.E87K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	87					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCAGTAGCTCCATGATCTCC	0.537000														28			72		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41038970	41038970	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41038970C>T	uc003jmj.4	-	20	2572	c.2082G>A	c.(2080-2082)aaG>aaA	p.K694K	HEATR7B2_uc003jmi.4_Silent_p.K249K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	694							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						TGGTCAGGCTCTTTTTCCCAG	0.433000														66			24		0	0	1	0	0
C17orf28	283987	broad.mit.edu	37	17	72952047	72952047	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72952047G>A	uc002jmj.4	-	12	1625	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	C17orf28_uc002jmi.3_5'Flank|C17orf28_uc010wrs.2_Silent_p.S291S	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	492						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					TGAGGTAGGGGGACACTGTAA	0.617000														102			7		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21186092	21186092	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:21186092C>T	uc001iqi.3	-	0	440	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	15					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						atcttttcttcttcagtttca	0.333000														25			8		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121414362	121414362	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121414362C>T	uc001pxx.3	+	12	1920	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	597					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.V596I(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCACTGTCTTCACCATCTTTG	0.512000														106			47		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108138014	108138014	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:108138014C>T	uc001pkb.1	+	16	2968	c.2583C>T	c.(2581-2583)taC>taT	p.Y861Y	ATM_uc009yxr.1_Silent_p.Y861Y|ATM_uc009yxs.1_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	861					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTAACGATTACCCTGATAGTA	0.368000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				66			22		0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44108899	44108899	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:44108899G>A	uc002ikc.3	-	14	3732	c.3261C>T	c.(3259-3261)ccC>ccT	p.P1087P	KANSL1_uc002ikd.3_Silent_p.P1087P|KANSL1_uc010dav.3_Silent_p.P1086P|KANSL1_uc010wkb.2_Silent_p.P418P|KANSL1_uc010wkc.2_Silent_p.P355P	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	1087						MLL1 complex	protein binding										GACTCTTGAGGGGGACAATGG	0.617000														19			9		0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142779665	142779665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:142779665G>A	uc003lnd.3	-	1	1734	c.740C>T	c.(739-741)cCt>cTt	p.P247L	NR3C1_uc003lmy.3_Missense_Mutation_p.P247L|NR3C1_uc003lmz.3_5'UTR|NR3C1_uc003lna.3_Missense_Mutation_p.P247L|NR3C1_uc003lnb.3_Missense_Mutation_p.P247L|NR3C1_uc011dbk.2_Intron|NR3C1_uc003lnf.3_Missense_Mutation_p.P247L|NR3C1_uc003lne.3_Missense_Mutation_p.P247L|NR3C1_uc003lnc.3_Missense_Mutation_p.P247L|NR3C1_uc021yfa.1_Missense_Mutation_p.P247L|NR3C1_uc021yfb.1_Missense_Mutation_p.P247L|NR3C1_uc003lng.2_Missense_Mutation_p.P247L|NR3C1_uc003lni.2_Missense_Mutation_p.P247L	NM_001018077	NP_001191193	P04150	GCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA.	247	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TAAAATGAGAGGCTTGCAGTC	0.423000														137			59		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18788653	18788653	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:18788653G>A	uc003sui.3	+	12	1976	c.1935G>A	c.(1933-1935)ctG>ctA	p.L645L	HDAC9_uc003sue.3_Silent_p.L642L|HDAC9_uc011jyd.2_Silent_p.L642L|HDAC9_uc003suh.3_Silent_p.L642L|HDAC9_uc003suj.3_Silent_p.L601L|HDAC9_uc003sua.1_Silent_p.L620L|HDAC9_uc010kue.1_Silent_p.L297L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	642	Histone deacetylase.			HQCV -> KPNS (in Ref. 8; AAF04254).	B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTTGATGCTGAAACACCAGT	0.438000														22			11		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33154504	33154504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33154504C>T	uc003ocx.1	-	4	926	c.698G>A	c.(697-699)aGg>aAg	p.R233K	COL11A2_uc003ocy.1_Missense_Mutation_p.R233K|COL11A2_uc003ocz.1_Missense_Mutation_p.R233K|COL11A2_uc003oda.3_Missense_Mutation_p.R233K	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	233	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGTCTTTCCCTCTGGCCCCC	0.562000														102			48		0	0	1	0	0
IL26	55801	broad.mit.edu	37	12	68619245	68619245	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:68619245C>T	uc001stx.1	-	1	242	c.207G>A	c.(205-207)aaG>aaA	p.K69K		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Homo sapiens interleukin 26 (IL26), mRNA.	69					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of cytokine secretion|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTTTTGTTTTCTTTTTTAATA	0.279000														36			9		0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14284333	14284333	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:14284333G>A	uc001mle.3	+	15	2337	c.2069G>A	c.(2068-2070)cGa>cAa	p.R690Q		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	691	TSP type-1 5.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	p.R690*(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CACGTGATTCGAACCCGGATG	0.537000														27			4		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210970944	210970944	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:210970944G>A	uc001hib.2	-	8	1991	c.1821C>T	c.(1819-1821)ctC>ctT	p.L607L	KCNH1_uc001hic.2_Silent_p.L580L	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	607					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CATGGTAGATGAGGTCCCCTG	0.602000														77			43		0	0	1	0	0
AK302879	0	broad.mit.edu	37	15	76073015	76073015	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:76073015G>A	uc010umm.1	+	4	404	c.327G>A	c.(325-327)atG>atA	p.M109I	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		AAGCACAGATGGAGCAGTTAG	0.473000														123			16		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7563999	7563999	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7563999G>A	uc003mxp.1	+	5	1036	c.757G>A	c.(757-759)Gag>Aag	p.E253K	DSP_uc003mxq.1_Missense_Mutation_p.E253K|DSP_uc021yle.1_Missense_Mutation_p.E253K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	253	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		CCAGTTGGAGGAGGAGTATGA	0.398000														73			25		0	0	1	0	0
SLC39A1	27173	broad.mit.edu	37	1	153932928	153932929	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153932928_153932929GG>AA	uc001fdl.3	-	4	1086_1087	c.620_621CC>TT	c.(619-621)gcc>gTT	p.A207V	CRTC2_uc021pab.1_5'Flank|SLC39A1_uc001fdi.3_Missense_Mutation_p.A207V|SLC39A1_uc001fdj.3_Missense_Mutation_p.A207V|SLC39A1_uc001fdk.3_Missense_Mutation_p.A207V|SLC39A1_uc010pee.2_Missense_Mutation_p.A105V	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA.	207						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		ACAGCTCCATGGCCCGAGCCCG	0.663000														35			16		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705246	30705246	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:30705246C>T	uc003xil.3	-	0	1288	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	430										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GACACTGGTTCATTTTCATTT	0.338000														157			43		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75276414	75276414	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75276414C>T	uc001xqj.4	+	6	4977	c.4853C>T	c.(4852-4854)cCc>cTc	p.P1618L	YLPM1_uc001xql.4_Non-coding_Transcript|YLPM1_uc001xqm.1_Missense_Mutation_p.P101L	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCTTCCATTCCCCCTCCTGGC	0.483000														55			11		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71135091	71135091	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:71135091G>A	uc003tvy.3	+	7	1401	c.1401G>A	c.(1399-1401)ggG>ggA	p.G467G	WBSCR17_uc003tvz.3_Silent_p.G166G	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	467	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TTGCTTACGGGGAGGTAATTC	0.418000														179			75		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72023549	72023549	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72023549G>A	uc002atb.1	+	8	1702	c.1623G>A	c.(1621-1623)agG>agA	p.R541R	THSD4_uc002atd.1_3'UTR|THSD4_uc010ukg.1_Silent_p.R181R|THSD4_uc002ate.2_Silent_p.R181R	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	541						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CACCCCACAGGAGACCAGGTA	0.557000											OREG0023247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		76			20		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154860085	154860085	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:154860085G>A	uc010hvr.1	+	11	1365	c.1154G>A	c.(1153-1155)cGa>cAa	p.R385Q	MME_uc003fab.1_Missense_Mutation_p.R385Q|MME_uc003fac.1_Missense_Mutation_p.R385Q|MME_uc003fad.1_Missense_Mutation_p.R385Q|MME_uc003fae.1_Missense_Mutation_p.R385Q	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	385					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R385Q(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AGCCTCAGCCGAACCTACAAG	0.383000														108			11		0	0	1	0	0
TSPY1	7258	broad.mit.edu	37	Y	9305977	9305977	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:9305977C>T	uc004frw.4	+	2	679	c.633C>T	c.(631-633)ttC>ttT	p.F211F	TSPY3_uc004fse.3_Intron|TSPY1_uc004frx.4_Silent_p.F211F|TSPY1_uc010nwp.1_Intron	NM_003308	NP_003299	Q01534	TSPY1_HUMAN	Homo sapiens testis specific protein, Y-linked 1 (TSPY1), transcript variant 1, mRNA.	211					cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus	identical protein binding			lung(4)	4						ACCCCTACTTCCAGAATAAAG	0.478000														222			38		0	0	1	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283670	151283670	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151283670C>T	uc004ffj.3	-	2	515	c.343G>A	c.(343-345)Gac>Aac	p.D115N	MAGEA5_uc022cgy.1_Missense_Mutation_p.D115N	NM_021049	NP_066387	P43359	MAGA5_HUMAN	Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.	115	MAGE.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Acute lymphoblastic leukemia(192;6.56e-05)					TGAATCAAGTCAGCCACCTTC	0.502000														66			10		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184103898	184103898	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:184103898C>T	uc003fov.3	+	14	2129	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F	CHRD_uc003fow.3_Missense_Mutation_p.S258F|CHRD_uc003fox.3_Missense_Mutation_p.S628F|CHRD_uc003foy.3_Missense_Mutation_p.S258F|CHRD_uc010hyc.3_Missense_Mutation_p.S218F|CHRD_uc011brr.2_Missense_Mutation_p.S258F	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	628	CHRD 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCATGGCCTCCCTGATGATC	0.622000														76			29		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21120193	21120193	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:21120193C>T	uc001iqi.3	-	15	2000	c.1603G>A	c.(1603-1605)Gga>Aga	p.G535R	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	535					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACTTGCATTCCTTTCCCTTTA	0.368000														74			6		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440697	40440697	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:40440697C>T	uc003gvc.2	-	3	924	c.214G>A	c.(214-216)Gag>Aag	p.E72K	RBM47_uc003gvd.2_Missense_Mutation_p.E72K|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.E34K|RBM47_uc003gvg.1_Missense_Mutation_p.E72K	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	72	RRM 1.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ACGAAGACCTCGCAGCCACGC	0.692000														30			11		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7528297	7528297	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7528297G>A	uc010sge.2	-	10	2742	c.2716_splice	c.e10+1	p.R906_splice	CD163L1_uc001qsy.3_Splice_Site_p.R896_splice	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	896	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAATCTCACGGGAACAGACAA	0.463000														67			22		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104174892	104174892	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104174892G>A	uc001kvg.1	-	3	1379	c.852C>T	c.(850-852)tcC>tcT	p.S284S	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Silent_p.S284S	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	284					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGTCTGTCTCGGAGTACTTGG	0.662000														45			16		0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184175043	184175043	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:184175043C>T	uc010irx.3	+	8	1269	c.1087C>T	c.(1087-1089)Cca>Tca	p.P363S	WWC2_uc003ivk.4_Missense_Mutation_p.P158S|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.P45S	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	363										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GTTCGTCACCCCACAGAAACG	0.483000														24			4		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43778950	43778950	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:43778950G>A	uc002rsw.4	-	18	3277	c.2925C>T	c.(2923-2925)ctC>ctT	p.L975L	THADA_uc010far.3_Silent_p.L244L|THADA_uc002rsx.4_Silent_p.L975L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Silent_p.L684L|THADA_uc010fat.1_Silent_p.L122L|THADA_uc002rta.2_Silent_p.L685L	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	975							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CCATTGGGATGAGGCCTTCAG	0.468000														57			12		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102480727	102480727	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102480727C>T	uc001phc.3	-	3	571	c.558G>A	c.(556-558)cgG>cgA	p.R186R		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	186					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CTAGAGTCCCCCGAGGCCCAT	0.493000														45			17		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21795948	21795948	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21795948G>A	uc001wag.3	+	16	2877	c.2877G>A	c.(2875-2877)aaG>aaA	p.K959K	RPGRIP1_uc001wah.3_Silent_p.K601K|RPGRIP1_uc001wai.3_Silent_p.K285K|RPGRIP1_uc001wak.3_Silent_p.K434K|RPGRIP1_uc010aim.3_Silent_p.K342K|RPGRIP1_uc001wal.3_Silent_p.K318K|RPGRIP1_uc001wam.3_Silent_p.K276K	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	959	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AAGAGGAAAAGGCTTCATTTC	0.463000														26			4		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97051876	97051876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:97051876G>A	uc021rcc.1	+	3	670	c.592G>A	c.(592-594)Gtt>Att	p.V198I				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	198										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GTTCAATACAGTTTCACAGTA	0.294000														52			17		0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15843464	15843464	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:15843464C>T	uc002wou.3	+	8	984	c.720C>T	c.(718-720)ttC>ttT	p.F240F	MACROD2_uc002wot.3_Silent_p.F240F|MACROD2_uc002woz.3_Silent_p.F5F|MACROD2_uc002wpb.3_Silent_p.F5F	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	240	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ATGAGTTTTTCTCCGTAGGTG	0.363000														33			9		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135003268	135003268	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:135003268C>T	uc001llz.1	+	8	1527	c.1526C>T	c.(1525-1527)tCg>tTg	p.S509L	KNDC1_uc001lma.1_Missense_Mutation_p.S444L	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	509	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCCTATGACTCGTTCTTTCTG	0.642000														32			14		0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64084892	64084892	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:64084892G>A	uc003dmf.3	-	7	2956	c.2370C>T	c.(2368-2370)ttC>ttT	p.F790F		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	790						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTTCTCCTAGGAAATAGCCCT	0.567000														64			22		0	0	1	0	0
NTF3	4908	broad.mit.edu	37	12	5603770	5603770	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:5603770G>A	uc001qnl.4	+	0	473	c.390G>A	c.(388-390)gcG>gcA	p.A130A	NTF3_uc001qnk.4_Silent_p.A143A	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	130					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CCGTGGTGGCGAACAGAACAT	0.602000														82			20		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121996	38121996	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38121996G>A	uc003atr.3	+	6	3704	c.3433G>A	c.(3433-3435)Gag>Aag	p.E1145K	TRIOBP_uc003atu.3_Missense_Mutation_p.E973K|TRIOBP_uc003atq.1_Missense_Mutation_p.E1145K|TRIOBP_uc003ats.1_Missense_Mutation_p.E973K	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1145					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGCCAGCACAGAGAGCCTTGT	0.642000														128			45		0	0	1	0	0
CTAG2	30848	broad.mit.edu	37	X	153880692	153880692	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:153880692C>T	uc004fmi.2	-	1	547	c.483G>A	c.(481-483)gaG>gaA	p.E161E	CTAG2_uc004fmh.2_Intron	NM_020994	NP_066274	O75638	CTAG2_HUMAN	Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.	161						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTTCTGCCCCTCCGGGGAGG	0.627000														48			49		0	0	1	0	0
FAM55D	54827	broad.mit.edu	37	11	114451014	114451014	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:114451014G>A	uc001ppc.3	-	4	1120	c.939C>T	c.(937-939)tcC>tcT	p.S313S	FAM55D_uc001ppd.3_Silent_p.S29S	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	313						extracellular region		p.T312S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		TGGGGATTGTGGATGTCATTC	0.413000														94			29		0	0	1	0	0
TNNI2	7136	broad.mit.edu	37	11	1862398	1862398	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1862398G>A	uc021qbv.1	+	5	436	c.414G>A	c.(412-414)agG>agA	p.R138R	TNNI2_uc021qbt.1_Silent_p.R117R|TNNI2_uc021qbu.1_Silent_p.R117R|TNNI2_uc010qxe.1_Silent_p.R138R	NM_003282	NP_003273	P48788	TNNI2_HUMAN	Homo sapiens troponin I type 2 (skeletal, fast) (TNNI2), transcript variant 1, mRNA.	138					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGACCTGAGGGCCAACCTGA	0.647000														29			19		0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	97006991	97006991	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:97006991G>A	uc001kkh.3	-	4	775	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	222					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CAGACTCCAGGATTTCCTGCA	0.453000														94			49		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57290806	57290806	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57290806G>A	uc002qnr.2	-	9	1063	c.681C>T	c.(679-681)cgC>cgT	p.R227R	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Silent_p.R23R|PEG3_uc010ygq.1_Silent_p.R23R|PEG3_uc010etp.2_Silent_p.R227R|PEG3_uc010ygs.1_Silent_p.R227R|PEG3_uc002qnq.2_Silent_p.R227R	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	384					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTCTTCCAGGCGTGAGATAA	0.507000														97			32		0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3834887	3834887	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3834887G>A	uc002lyw.2	-	1	160	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	50						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GCAGCTGGGGGAAAGGCCGGG	0.697000														14			8		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92470044	92470044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:92470044C>T	uc001dol.4	+	17	2880	c.2462C>T	c.(2461-2463)tCc>tTc	p.S821F	BRDT_uc010osz.2_Missense_Mutation_p.S825F|BRDT_uc001dok.4_Missense_Mutation_p.S821F|BRDT_uc009wdf.3_Missense_Mutation_p.S748F|BRDT_uc010otb.2_Missense_Mutation_p.S775F|BRDT_uc010ota.2_Missense_Mutation_p.S775F|BRDT_uc001dom.4_Missense_Mutation_p.S821F	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.S821S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTAATGAAATCCTCAGATGAG	0.358000														104			43		0	0	1	0	0
LYZL2	119180	broad.mit.edu	37	10	30918621	30918621	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:30918621G>C	uc001ivk.3	-	0	27	c.14C>G	c.(13-15)cCc>cGc	p.P5R		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	Homo sapiens lysozyme-like 2 (LYZL2), mRNA.	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				GCAGCTCAGGGGAGCGTCCTG	0.502000														44			8		0	0	1	0	0
TEX26	122046	broad.mit.edu	37	13	31531050	31531050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:31531050G>A	uc001uti.3	+	3	372	c.353G>A	c.(352-354)gGg>gAg	p.G118E		NM_152325	NP_689538	Q8N6G2	CM026_HUMAN	Homo sapiens chromosome 13 open reading frame 26 (C13orf26), mRNA.	118																	CAACAAACGGGGACACTAAAG	0.388000														85			27		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183521816	183521816	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183521816C>T	uc003fly.2	+	26	3819	c.3624C>T	c.(3622-3624)atC>atT	p.I1208I	AX746590_uc003fma.1_3'UTR	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	1208					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TACAAGAAATCCTGGAGAAGA	0.443000														92			56		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307866	46307866	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46307866C>T	uc002pdm.3	-	2	1468	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	RSPH6A_uc002pdl.3_Missense_Mutation_p.E169K	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	433						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						AGGCCCGGCTCGTTGCACACA	0.617000														55			20		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31864577	31864577	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:31864577G>A	uc003tcm.2	-	12	1771	c.1310C>T	c.(1309-1311)cCc>cTc	p.P437L	PDE1C_uc003tcn.1_Missense_Mutation_p.P437L|PDE1C_uc003tco.2_Missense_Mutation_p.P497L|PDE1C_uc003tcr.3_Missense_Mutation_p.P437L|PDE1C_uc003tcs.3_Missense_Mutation_p.P437L	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	437	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGTGAAGGTGGGTTCCACGAT	0.458000														113			13		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141128790	141128790	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141128790C>T	uc002tvj.1	-	69	11805	c.10833G>A	c.(10831-10833)ttG>ttA	p.L3611L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3611	LDL-receptor class A 28.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTACATTTCAAAGATGCTG	0.303000										TSP Lung(27;0.18)				33			15		0	0	1	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67201482	67201482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67201482C>T	uc001old.3	+	10	1005	c.923C>T	c.(922-924)cCc>cTc	p.P308L	RPS6KB2_uc021qmi.1_Missense_Mutation_p.P31L	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 2 (RPS6KB2), mRNA.	308	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AAACGGAATCCCAGCCAGCGG	0.642000														53			7		0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092793	151092793	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151092793G>A	uc022cgv.1	+	0	657	c.657G>A	c.(655-657)gaG>gaA	p.E219E	MAGEA4_uc004fez.3_Silent_p.E219E|MAGEA4_uc004ffa.3_Silent_p.E219E|MAGEA4_uc004ffb.3_Silent_p.E219E|MAGEA4_uc022cgu.1_Silent_p.E247E|MAGEA4_uc004ffc.3_Silent_p.E219E|MAGEA4_uc004ffd.3_Silent_p.E219E	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	219	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCGCCTCTGAGGAGGAAATCT	0.552000														53			57		0	0	1	0	0
C4orf33	132321	broad.mit.edu	37	4	130023819	130023819	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:130023819C>T	uc003igu.4	+	1	418	c.54C>T	c.(52-54)ccC>ccT	p.P18P	C4orf33_uc010ioc.1_Silent_p.P18P|C4orf33_uc010iod.3_Silent_p.P18P	NM_173487	NP_775758	Q8N1A6	CD033_HUMAN	Homo sapiens chromosome 4 open reading frame 33 (C4orf33), transcript variant 1, mRNA.	18										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						AGCATGAGCCCGTATTTATCA	0.403000														78			27		0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19317917	19317917	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:19317917C>T	uc010vyw.2	+	8	1183	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Missense_Mutation_p.R201C	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	318							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CCTCTTAGTTCGTGACTCATC	0.597000														26			19		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161214670	161214670	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:161214670C>T	uc011bpb.2	+	0	75	c.75C>T	c.(73-75)acC>acT	p.T25T		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	25						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TAGCAAAGACCACACCACATA	0.393000														14			7		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11631189	11631189	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11631189G>A	uc002gne.3	+	27	5832	c.5764G>A	c.(5764-5766)Gat>Aat	p.D1922N	DNAH9_uc010coo.3_Missense_Mutation_p.D1216N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1922	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGCTGCTTTGATGAGTTTAA	0.488000														23			21		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579609	140579609	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140579609G>A	uc003liy.3	+	0	262	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	88	Cadherin 1.				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)			GCTCTTAAGTGAAACACTAGA	0.493000														96			49		0	0	1	0	0
FAHD2B	151313	broad.mit.edu	37	2	97757237	97757237	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:97757237G>A	uc002sxm.3	-	1	358	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 2B (FAHD2B), mRNA.	69							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						CCTGCTCTAGGAACTGCGTCA	0.607000														55			17		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271920	22271920	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22271920G>A	uc010ecx.3	+	3	1537	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E	ZNF257_uc010ecy.3_Silent_p.E424E	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATACTGGAGAGAAACCCTACA	0.393000														55			24		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597494	136597494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:136597494C>T	uc003qgx.1	-	4	1422	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	BCLAF1_uc003qgy.1_Missense_Mutation_p.G388E|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.G388E|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	390					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTTTTGTTTTCCAGACTCTTT	0.423000														560			56		0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77910348	77910348	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:77910348C>T	uc002ffg.1	+	4	901	c.804C>T	c.(802-804)ccC>ccT	p.P268P		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	268							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						TTCTCAAACCCCTGGGAACCT	0.473000														109			23		0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9864374	9864374	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:9864374C>T	uc004csu.1	+	3	2516	c.2426C>T	c.(2425-2427)cCc>cTc	p.P809L		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	809					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)				AAACCTGTTCCCCAGAGGCCT	0.602000														13			31		0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53205055	53205055	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:53205055C>T	uc002xwy.3	+	2	428	c.208C>T	c.(208-210)Cga>Tga	p.R70*		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	70	PH.						insulin receptor binding	p.R70G(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GAACGTAGCTCGATTGCCAAA	0.408000														133			59		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78547308	78547309	+	Missense_Mutation	DNP	AG	CA	CA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:78547308_78547309AG>CA	uc004akc.2	+	1	744_745	c.206_207AG>CA	c.(205-207)aag>aCA	p.K69T	PCSK5_uc004ajy.2_Missense_Mutation_p.K69T|PCSK5_uc004ajz.3_Missense_Mutation_p.K69T|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	69					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGGGCCCTGAAGGACTACTACC	0.406000														45			22		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58111395	58111395	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58111395C>T	uc003djj.2	+	22	4151	c.3986C>T	c.(3985-3987)tCt>tTt	p.S1329F	FLNB_uc010hne.2_Missense_Mutation_p.S1329F|FLNB_uc003djk.2_Missense_Mutation_p.S1329F|FLNB_uc010hnf.2_Missense_Mutation_p.S1329F|FLNB_uc003djl.2_Missense_Mutation_p.S1160F|FLNB_uc003djm.2_Missense_Mutation_p.S1160F	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1329	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.S1329Y(3)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGCCAGCCATCTAGGGTGCAA	0.517000														90			29		0	0	1	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975941	32975941	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32975941C>T	uc003ocr.3	-	1	256	c.180G>A	c.(178-180)gtG>gtA	p.V60V	HLA-DOA_uc010juj.3_Silent_p.V30V|HLA-DOA_uc010jui.3_Silent_p.V60V	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	60	Alpha-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TCTTCAGGTCCACAGAGAACA	0.602000														48			19		0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	11905494	11905494	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:11905494C>T	uc001qzz.3	+	1	418	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	48	PNT.					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				AAGACTCGATCCGCCTGCCTG	0.622000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""									56			22		0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8218758	8218758	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:8218758G>A	uc002glc.3	+	6	1442	c.1287G>A	c.(1285-1287)gaG>gaA	p.E429E	ARHGEF15_uc002gld.3_Silent_p.E429E|ARHGEF15_uc010vuw.2_Silent_p.E318E	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	429	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TGACGTCCGAGGCTTCCTACC	0.622000														106			52		0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143560784	143560784	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:143560784C>T	uc003ywm.3	+	6	1845	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	554	TSP type-1 5.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGCCCTTCTTCGGGGGAGCAG	0.706000														10			7		0	0	1	0	0
NFAM1	150372	broad.mit.edu	37	22	42807450	42807450	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:42807450G>A	uc003bcn.4	-	1	452	c.414C>T	c.(412-414)tcC>tcT	p.S138S		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	Homo sapiens NFAT activating protein with ITAM motif 1 (NFAM1), mRNA.	138	Ig-like V-type.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						CTCTCACCGTGGAGTGTGGCC	0.597000														20			17		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72049908	72049908	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:72049908C>T	uc021rkj.1	-	8	2373	c.1950G>A	c.(1948-1950)acG>acA	p.T650T	DACH1_uc021rkk.1_Silent_p.T502T|DACH1_uc021rkl.1_Silent_p.T448T	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	700	DACHbox-C.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.T650M(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CACGCCGTTTCGTCTCAAACT	0.388000														196			84		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872836	55872836	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55872836C>T	uc010riy.2	+	0	318	c.318C>T	c.(316-318)ttC>ttT	p.F106F		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTTTTGCCTTCTTGGGTACTG	0.448000										HNSCC(53;0.14)				370			146		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786202	112786202	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:112786202G>A	uc002thk.1	+	18	2883	c.2761G>A	c.(2761-2763)Gac>Aac	p.D921N	MERTK_uc002thl.1_Missense_Mutation_p.D745N	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	921					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AGAAGTTCATGACAGCAAACC	0.537000														113			43		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32366635	32366635	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:32366635G>A	uc004dda.1	-	37	5580	c.5336C>T	c.(5335-5337)cCt>cTt	p.P1779L	DMD_uc004dcw.2_Missense_Mutation_p.P435L|DMD_uc004dcx.2_Missense_Mutation_p.P438L|DMD_uc004dcz.2_Missense_Mutation_p.P1656L|DMD_uc004dcy.1_Missense_Mutation_p.P1775L|DMD_uc004ddb.1_Missense_Mutation_p.P1771L|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1779	Interaction with SYNM (By similarity).				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)				TTCCTTCAAAGGAATGGAGGC	0.343000														9			14		0	0	1	0	0
CASQ2	845	broad.mit.edu	37	1	116311050	116311050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:116311050G>A	uc001efx.4	-	0	377	c.113C>T	c.(112-114)tCc>tTc	p.S38F	CASQ2_uc010owu.2_Missense_Mutation_p.S38F	NM_001232	NP_001223	O14958	CASQ2_HUMAN	Homo sapiens calsequestrin 2 (cardiac muscle) (CASQ2), nuclear gene encoding mitochondrial protein, mRNA.	38					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTTCTTCTCGGAAAGACTTAC	0.438000														61			92		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113679831	113679831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113679831C>T	uc001poh.3	-	16	2151	c.2118G>A	c.(2116-2118)atG>atA	p.M706I	USP28_uc001pog.3_Missense_Mutation_p.M414I|USP28_uc010rwy.2_Missense_Mutation_p.M581I|USP28_uc001poi.3_Missense_Mutation_p.M61I	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	706					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TGGAGGACTCCATTTGAGGGA	0.463000														223			92		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802259	185802259	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:185802259G>A	uc002uph.3	+	3	2730	c.2136G>A	c.(2134-2136)ggG>ggA	p.G712G		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	712						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TACATTCTGGGAAACATAATT	0.308000														71			26		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152557374	152557374	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:152557374C>T	uc021zhb.1	-	107	20487	c.20264G>A	c.(20263-20265)cGa>cAa	p.R6755Q	SYNE1_uc003qos.4_Missense_Mutation_p.R1279Q|SYNE1_uc003qot.4_Missense_Mutation_p.R6684Q|SYNE1_uc003qou.4_Missense_Mutation_p.R6755Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6755					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATCAGAAGTCGTTTCCCATC	0.338000										HNSCC(10;0.0054)				32			30		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76891507	76891507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:76891507G>A	uc001oyb.2	+	21	2946	c.2674G>A	c.(2674-2676)Gag>Aag	p.E892K	MYO7A_uc010rsl.2_Missense_Mutation_p.E892K|MYO7A_uc010rsm.1_Missense_Mutation_p.E881K|MYO7A_uc001oyc.2_Missense_Mutation_p.E892K|MYO7A_uc001oyd.3_Missense_Mutation_p.E232K|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.E103K	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	892					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						GGCCAAGGAGGAGGCCGAGCG	0.612000														22			6		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72338847	72338847	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72338847G>A	uc002jkm.4	+	3	448	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	KIF19_uc002jkj.2_Missense_Mutation_p.G104S|KIF19_uc002jkk.2_Missense_Mutation_p.G104S|KIF19_uc002jkl.2_Missense_Mutation_p.G104S	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	104	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTTTGCCTATGGCCCCACAGG	0.592000														55			25		0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170406	58170406	+	Silent	SNP	C	T	T	rs141530938		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58170406C>T	uc010rkf.2	-	0	477	c.477G>A	c.(475-477)ggG>ggA	p.G159G		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G159G(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAAATGTGTCCCCAGTGTGGA	0.453000														134			26		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187672	140187672	+	Silent	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140187672A>C	uc003lhi.2	+	0	1001	c.900A>C	c.(898-900)ggA>ggC	p.G300G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.G300G|PCDHAC2_uc011daa.2_Silent_p.G300G	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	315	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATTACTGGACAAATTATTG	0.353000														128			29		0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118779085	118779085	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118779085G>A	uc001pug.3	-	1	1271	c.306C>T	c.(304-306)ccC>ccT	p.P102P	BCL9L_uc009zal.3_Silent_p.P97P|MIR4492_uc021qrh.1_5'Flank	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	102					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGCTGAAAGGGGGCACCCCTG	0.637000														79			32		0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133119161	133119161	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:133119161C>T	uc003epn.1	+	0	372	c.234C>T	c.(232-234)ctC>ctT	p.L78L		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	78	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GCCGGGCCCTCGGCATCAGCA	0.647000														71			19		0	0	1	0	0
ABCF2	10061	broad.mit.edu	37	7	150915701	150915701	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150915701G>A	uc003wjo.1	-	9	1284	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	ABCF2_uc003wjp.3_Silent_p.I391I	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	391						ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGTGGAGGGATCTTGCCAC	0.478000														67			10		0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24805461	24805461	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24805461G>A	uc001wpb.3	-	9	1687	c.1477C>T	c.(1477-1479)Cca>Tca	p.P493S	ADCY4_uc001wow.3_5'Flank|ADCY4_uc010toh.2_5'Flank|ADCY4_uc001wox.3_5'Flank|ADCY4_uc001woy.3_5'Flank|ADCY4_uc001woz.4_5'Flank|RIPK3_uc001wpa.3_Missense_Mutation_p.P293S|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_Missense_Mutation_p.P272S	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	493					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GAACCTACTGGTGGGGGGTGC	0.547000														92			9		0	0	1	0	0
YPEL4	219539	broad.mit.edu	37	11	57413472	57413472	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57413472C>T	uc001nkv.4	-	4	810	c.366G>A	c.(364-366)aaG>aaA	p.K122K	AK096335_uc001nkt.1_Intron|YPEL4_uc009ymk.3_Non-coding_Transcript	NM_145008	NP_659445	Q96NS1	YPEL4_HUMAN	Homo sapiens yippee-like 4 (Drosophila) (YPEL4), mRNA.	122						nucleolus				lung(2)|skin(1)	3						AGCCGTTGTCCTTCACCATGT	0.547000														68			35		0	0	1	0	0
MYOZ3	91977	broad.mit.edu	37	5	150051192	150051192	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:150051192G>A	uc003lss.2	+	3	837	c.250G>A	c.(250-252)Gga>Aga	p.G84R	MYOZ3_uc003lsr.2_Missense_Mutation_p.G84R	NM_001122853	NP_588612	Q8TDC0	MYOZ3_HUMAN	Homo sapiens myozenin 3 (MYOZ3), transcript variant 1, mRNA.	84	Binding to FLNC.					sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGGTGACTGGAACAGCGGA	0.682000														121			13		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111744784	111744784	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:111744784G>T	uc001tsa.2	+	10	1072	c.918G>T	c.(916-918)aaG>aaT	p.K306N		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	306						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K306K(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGGCCTCCAAGGACAGGGAGA	0.642000														77			31		1.61788e-16	1.62584e-16	1	1	0
TTC36	143941	broad.mit.edu	37	11	118399470	118399470	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118399470C>T	uc001ptg.1	+	1	271	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	TTC36_uc010ryb.1_Non-coding_Transcript|TTC36_uc010ryc.1_Missense_Mutation_p.R32C|TMEM25_uc010ryd.1_5'Flank|TMEM25_uc001ptk.4_5'Flank|TMEM25_uc010ryf.2_5'Flank|TMEM25_uc010rye.2_5'Flank|TMEM25_uc009zad.3_5'Flank|TMEM25_uc001pth.3_5'Flank|TMEM25_uc001pti.3_5'Flank|TMEM25_uc001ptl.2_5'Flank|TMEM25_uc001ptm.2_5'Flank	NM_001080441	NP_001073910	A6NLP5	TTC36_HUMAN	Homo sapiens tetratricopeptide repeat domain 36 (TTC36), mRNA.	91							binding			lung(2)	2						CTACAACAACCGTGCCCAGGC	0.637000														31			22		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50094243	50094243	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:50094243C>T	uc004dox.4	+	11	4262	c.3964C>T	c.(3964-3966)Ccc>Tcc	p.P1322S	CCNB3_uc004doy.3_Missense_Mutation_p.P1322S|CCNB3_uc004doz.3_Missense_Mutation_p.P218S|CCNB3_uc010njq.3_Missense_Mutation_p.P214S|CCNB3_uc004dpa.3_Missense_Mutation_p.P161S	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1322					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CTTCCAGGTTCCCTTCCTGGA	0.458000														37			62		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519159	113519159	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:113519159C>T	uc010ljy.1	-	3	2019	c.1988G>A	c.(1987-1989)gGa>gAa	p.G663E		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	663					glycogen metabolic process	integral to membrane		p.G663G(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTTGATTTTCCCTGACTTTC	0.363000														164			61		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8601239	8601239	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8601239C>T	uc002mkg.3	-	18	2078	c.1940G>A	c.(1939-1941)gGg>gAg	p.G647E		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	647	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GCGTTCGTCCCCACGCCACCG	0.652000														86			7		0	0	1	0	0
TAAR2	9287	broad.mit.edu	37	6	132938624	132938624	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:132938624G>A	uc003qdl.1	-	1	721	c.721C>T	c.(721-723)Cat>Tat	p.H241Y	TAAR2_uc010kfr.1_Missense_Mutation_p.H196Y	NM_001033080	NP_055441	Q9P1P5	TAAR2_HUMAN	Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA.	241						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		TTGATGGCATGAGCATGTTTT	0.383000														47			33		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61568741	61568741	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61568741C>T	uc002jau.2	+	19	2946	c.2912_splice	c.e19+1	p.R971_splice	ACE_uc010wpj.2_Splice_Site_p.R397_splice|ACE_uc010ddv.2_Splice_Site_p.R198_splice|ACE_uc002jav.2_Splice_Site_p.R397_splice|ACE_uc002jaw.2_Splice_Site|ACE_uc010wpk.2_Splice_Site_p.R217_splice	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	971	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)	CAAGGACTTCCGGTACATCCA	0.607000														57			36		0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145770958	145770958	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145770958G>A	uc003zds.1	-	6	2751	c.2196C>T	c.(2194-2196)atC>atT	p.I732I	ARHGAP39_uc011llk.1_Silent_p.I732I|ARHGAP39_uc003zdt.1_Silent_p.I732I	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	732	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGCTTGTCACGATCATGGGCT	0.612000														41			13		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766107	13766107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13766107C>T	uc003jfd.2	-	58	10121	c.10079G>A	c.(10078-10080)gGg>gAg	p.G3360E	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3360	Stalk (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)					TAAAAAGTTCCCTGCAGTCAT	0.428000									Kartagener syndrome					142			23		0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11971966	11971966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:11971966C>T	uc001mjs.3	+	23	4283	c.3520C>T	c.(3520-3522)Cat>Tat	p.H1174Y	USP47_uc001mjr.3_Missense_Mutation_p.H1106Y|USP47_uc009ygi.3_5'UTR	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	Homo sapiens ubiquitin specific peptidase 47 (USP47), mRNA.	1194					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	WD40-repeat domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTTGGATTATCATATTTATGA	0.323000														106			39		0	0	1	0	0
NR0B1	190	broad.mit.edu	37	X	30327363	30327363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:30327363C>T	uc004dcf.4	-	0	133	c.118G>A	c.(118-120)Ggc>Agc	p.G40S		NM_000475	NP_000466	P51843	NR0B1_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 1 (NR0B1), mRNA.	40	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|RNA binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CACGAACAGCCCCAGCACTGA	0.657000														7			4		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18075548	18075548	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:18075548C>T	uc021trm.1	+	62	10513	c.10294C>T	c.(10294-10296)Cct>Tct	p.P3432S	MYO15A_uc021trl.1_Missense_Mutation_p.P3430S|MYO15A_uc010vxi.2_Missense_Mutation_p.P696S|MYO15A_uc010vxk.1_Missense_Mutation_p.P125S|MYO15A_uc010vxl.1_Missense_Mutation_p.P421S|MYO15A_uc002gsl.3_Missense_Mutation_p.P422L|MYO15A_uc010vxm.2_Silent_p.P255P|MYO15A_uc010cpv.3_Non-coding_Transcript	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	3432	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGTGCCAGCCCCTTGCATCCT	0.587000														37			27		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703603	4703603	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4703603G>A	uc001lzk.2	-	1	583	c.339C>T	c.(337-339)atC>atT	p.I113I	OR51E2_uc021qcr.1_Silent_p.I113I	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGCCAGCAGGATGGTGGATT	0.517000														45			15		0	0	1	0	0
ERO1L	30001	broad.mit.edu	37	14	53149110	53149110	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:53149110G>A	uc001wzv.3	-	2	471	c.251C>T	c.(250-252)cCg>cTg	p.P84L		NM_014584	NP_055399	Q96HE7	ERO1A_HUMAN	Homo sapiens ERO1-like (S. cerevisiae) (ERO1L), mRNA.	84					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					GAAAGGACACGGCCTCTTCAG	0.333000														106			35		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183717885	183717885	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:183717885G>A	uc003ivd.1	+	25	7384	c.7309G>A	c.(7309-7311)Gaa>Aaa	p.E2437K		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2437					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ACCTTCTTACGAACTTGTGAA	0.408000														20			7		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46832728	46832728	+	Missense_Mutation	SNP	C	T	T	rs140829009		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46832728C>T	uc002peh.3	+	11	1736	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	HIF3A_uc002peg.4_Missense_Mutation_p.R569W|HIF3A_uc021uwf.1_Missense_Mutation_p.R513W|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Missense_Mutation_p.R500W|HIF3A_uc002pel.3_Missense_Mutation_p.R567W|HIF3A_uc010xxz.2_Missense_Mutation_p.R518W	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	569	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GGCTGGGGCTCGGAAGAGGTG	0.652000														10			6		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168678418	168678418	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:168678418G>A	uc010jjg.3	-	1	663	c.243C>T	c.(241-243)ttC>ttT	p.F81F	SLIT3_uc003mab.3_Silent_p.F81F|SLIT3_uc010jji.2_Silent_p.F81F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	81					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding	p.D80G(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAGCCCAGCGAAGTCCATCT	0.433000														95			32		0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61386197	61386197	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61386197C>T	uc002ydf.3	+	1	1246	c.875C>T	c.(874-876)cCt>cTt	p.P292L		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	292						Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCATCGAGCCTGGCAGGGTC	0.687000														29			12		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32812098	32812098	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:32812098C>T	uc001utx.3	+	43	6889	c.6393C>T	c.(6391-6393)tcC>tcT	p.S2131S	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCAAAATATCCATGGTGGATG	0.498000														96			22		0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62798036	62798036	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:62798036C>T	uc001src.2	+	21	2902	c.2827C>T	c.(2827-2829)Cct>Tct	p.P943S	USP15_uc001srb.2_Missense_Mutation_p.P914S	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	943					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TGGCTTTTTTCCTCTTGACCG	0.378000														171			42		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884347	228884347	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228884347G>A	uc002vpq.2	-	6	1270	c.1223C>T	c.(1222-1224)tCt>tTt	p.S408F	SPHKAP_uc002vpp.2_Missense_Mutation_p.S408F|SPHKAP_uc010zlx.1_Missense_Mutation_p.S408F	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	408						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGAGATTGAGATAATCTAAT	0.438000														91			26		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17657536	17657537	+	Missense_Mutation	DNP	CC	TT	TT	rs77182432	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17657536_17657537CC>TT	uc001baj.2	+	1	193_194	c.165_166CC>TT	c.(163-168)ggccct>ggTTct	p.P56S	PADI4_uc009vpc.2_Missense_Mutation_p.P56S	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	56					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TTGCCCACGGCCCTCCAGCCAA	0.599000														45			23		0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48457594	48457594	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48457594G>A	uc001rqx.3	-	12	1752	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C	SENP1_uc001rqw.3_Missense_Mutation_p.R436C|SENP1_uc001rqy.3_Missense_Mutation_p.R237C|SENP1_uc001rqz.3_Missense_Mutation_p.R237C|SENP1_uc009zkx.3_Missense_Mutation_p.R436C	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	436					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	SUMO-specific protease activity|endopeptidase activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TTCCCATTACGAAATACATTC	0.383000														37			10		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51025755	51025755	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:51025755G>A	uc002lfe.2	+	26	4602	c.3986G>A	c.(3985-3987)aGa>aAa	p.R1329K	DCC_uc010dpf.2_Missense_Mutation_p.R962K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1329					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCACCAAGCAGAACCATCCCC	0.542000														101			46		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594458	140594458	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140594458G>A	uc003lja.1	+	0	950	c.763G>A	c.(763-765)Gac>Aac	p.D255N		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	255	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATCTCTGAGGACAGTCCGGT	0.498000														223			79		0	0	1	0	0
METTL17	64745	broad.mit.edu	37	14	21464991	21464991	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21464991C>T	uc001vyo.3	+	12	1583	c.1386C>T	c.(1384-1386)acC>acT	p.T462T	METTL17_uc001vym.3_Missense_Mutation_p.P429L|METTL17_uc001vyn.3_Missense_Mutation_p.P438L|SLC39A2_uc001vys.3_5'Flank|SLC39A2_uc001vyr.3_5'Flank	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.	0					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GATCTTTTACCTGTGCTTACT	0.522000														94			39		0	0	1	0	0
SLC25A37	51312	broad.mit.edu	37	8	23429132	23429132	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:23429132C>T	uc003xdo.3	+	3	934	c.781C>T	c.(781-783)Ctt>Ttt	p.L261F	SLC25A37_uc003xdp.3_Non-coding_Transcript|SLC25A37_uc003xdq.3_Non-coding_Transcript|FP15737_uc003xds.3_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	Homo sapiens solute carrier family 25, member 37 (SLC25A37), nuclear gene encoding mitochondrial protein, mRNA.	261					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CTGTAAGACCCTTCTGAACAC	0.677000														22			10		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42379582	42379582	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42379582C>T	uc001zox.3	-	2	266	c.171G>A	c.(169-171)atG>atA	p.M57I		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	57	C2.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TCTTAAACTTCATTCCAGGTG	0.547000														141			56		0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51487060	51487060	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:51487060C>T	uc004dpl.3	+	0	580	c.338C>T	c.(337-339)tCc>tTc	p.S113F		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	113					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GTGGAACCTTCCCGAGAGGAA	0.572000														4			7		0	0	1	0	0
PNPLA8	50640	broad.mit.edu	37	7	108138000	108138000	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:108138000G>A	uc003vff.1	-	6	1787	c.1380C>T	c.(1378-1380)acC>acT	p.T460T	PNPLA8_uc003vfi.1_Silent_p.T360T|PNPLA8_uc003vfh.1_Silent_p.T460T|PNPLA8_uc003vfj.1_Silent_p.T460T|PNPLA8_uc003vfk.1_Silent_p.T360T	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA.	460	Patatin.				fatty acid metabolic process|lipid catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						ATTTTCGTAGGGTCTGGAGAG	0.343000														46			24		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27121488	27121488	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27121488G>A	uc002rhu.4	+	1	279	c.121G>A	c.(121-123)Gag>Aag	p.E41K	DPYSL5_uc002rhv.4_Missense_Mutation_p.E41K|DPYSL5_uc021vev.1_Missense_Mutation_p.E41K	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	41					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGGCCGCGAGCTCATGAT	0.582000														67			23		0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434764	42434764	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42434764G>A	uc001zoz.3	-	18	2383	c.2291C>T	c.(2290-2292)cCc>cTc	p.P764L	PLA2G4F_uc010bcq.3_Missense_Mutation_p.P61L|PLA2G4F_uc001zoy.3_Missense_Mutation_p.P396L|PLA2G4F_uc001zpa.3_Missense_Mutation_p.P515L|PLA2G4F_uc010bcr.3_Missense_Mutation_p.P515L|PLA2G4F_uc010bcs.3_Missense_Mutation_p.P551L	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	764	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	p.P764S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GTTAACCAGGGGGAAGTGCAG	0.632000														50			19		0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24861028	24861028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:24861028C>T	uc001upd.2	+	8	3185	c.2607C>T	c.(2605-2607)gtC>gtT	p.V869V	SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Silent_p.V869V|SPATA13_uc001upg.2_Silent_p.V244V|SPATA13_uc010tcy.1_Silent_p.V190V|SPATA13_uc010tcz.2_Intron|SPATA13_uc010tdb.2_Intron|SPATA13_uc010tda.2_Silent_p.V188V|SPATA13_uc001uph.3_Silent_p.V166V|SPATA13_uc009zzz.2_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	244					cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GGACCAACGTCATCCGGGAGA	0.602000														68			29		0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38319978	38319978	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:38319978A>T	uc010cwt.1	+	6	1325	c.1030A>T	c.(1030-1032)Aag>Tag	p.K344*	CASC3_uc010cws.1_Nonsense_Mutation_p.K344*|CASC3_uc002hue.3_Nonsense_Mutation_p.K344*	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	344					RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						TGAGACTGTTAAGCATGAGAT	0.547000														90			85		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179644778	179644778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179644778C>T	uc021vsy.1	-	21	3903	c.3678G>A	c.(3676-3678)agG>agA	p.R1226R	TTN_uc021vsz.1_Silent_p.R1180R|TTN_uc021vta.1_Silent_p.R1180R|TTN_uc021vtb.1_Silent_p.R1180R|TTN_uc002unb.2_Silent_p.R1226R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1226							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)			CCATTTTCTTCCTAATTAAGG	0.333000														64			36		0	0	1	0	0
EFHC2	80258	broad.mit.edu	37	X	44202802	44202802	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:44202802G>A	uc004dgb.4	-	0	122	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA.	11							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						CGTTGCGGTTGAAGCTGTTGC	0.687000														1			3		0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395442	115395442	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:115395442G>A	uc003ebr.2	+	2	1395	c.721G>A	c.(721-723)Gct>Act	p.A241T	GAP43_uc003ebq.2_Missense_Mutation_p.A205T	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	205					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GAGCAGCCAAGCTGAAGAGAA	0.607000														25			9		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27147884	27147884	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27147884C>T	uc002rhu.4	+	2	549	c.391C>T	c.(391-393)Cac>Tac	p.H131Y	DPYSL5_uc002rhv.4_Missense_Mutation_p.H131Y|DPYSL5_uc021vev.1_Missense_Mutation_p.H131Y	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	131					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACGCCCTCCACGTGGGGAT	0.612000														32			12		0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30632987	30632987	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30632987C>A	uc003nqz.3	-	5	1198	c.986G>T	c.(985-987)tGg>tTg	p.W329L	DHX16_uc011dmo.2_Missense_Mutation_p.W269L	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	329					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						CGCCTCCTCCCAGCGCCGCTG	0.617000														23			6		0.0215528	0.0215558	1	1	0
SGCZ	137868	broad.mit.edu	37	8	14022150	14022150	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:14022150C>T	uc003wwq.3	-	4	1146	c.486G>A	c.(484-486)agG>agA	p.R162R	SGCZ_uc010lss.3_Silent_p.R115R	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	149					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		AAAACAGCACCCTGCCATCTT	0.413000														57			27		0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125516860	125516860	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:125516860C>T	uc001lhk.1	-	11	2111	c.1786G>A	c.(1786-1788)Gat>Aat	p.D596N	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	596					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TAGCTGAAATCGTTCAGACCT	0.493000														99			41		0	0	1	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764975	109764975	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:109764975C>T	uc004eos.1	+	0		c.1436C>T								Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																		ATGCAAATTTCATGACCCGTA	0.343000														22			15		0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137816641	137816641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:137816641G>A	uc003erq.3	-	2	913	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	DZIP1L_uc003err.1_Missense_Mutation_p.H184Y	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	184						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						cgctggatgtggccccggaga	0.577000											OREG0015831	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			10		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18378199	18378199	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18378199G>A	uc010ebn.2	-	2	367	c.151C>T	c.(151-153)Cct>Tct	p.P51S	KIAA1683_uc002nin.2_Missense_Mutation_p.P51S|KIAA1683_uc010xqe.1_Missense_Mutation_p.P5S	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	51						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGCTGTGGAGGCGCTTTCTCC	0.667000														107			48		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57611049	57611049	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57611049G>A	uc009vzx.1	-	2	441	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	DAB1_uc001cyt.1_Missense_Mutation_p.R41W|DAB1_uc001cyq.1_Missense_Mutation_p.R41W|DAB1_uc001cyr.1_Missense_Mutation_p.R41W|DAB1_uc009vzw.1_Missense_Mutation_p.R41W|DAB1_uc001cys.1_Missense_Mutation_p.R41W	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	41	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCTTTGTACCGGACCCCTTCA	0.443000														99			36		0	0	1	0	0
HBG1	3047	broad.mit.edu	37	11	5275566	5275566	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5275566C>T	uc001mai.1	-	1	708	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.E91K	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	91					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGCAGTTCACTCAGCTGG	0.507000														130			28		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9017450	9017450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9017450G>A	uc002mkp.3	-	25	38078	c.37874C>T	c.(37873-37875)cCt>cTt	p.P12625L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12627	SEA 4.				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						GTCCACTCCAGGGCTTTTGGG	0.572000														160			11		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92600263	92600263	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92600263C>T	uc001pdj.4	+	20	12032	c.12015C>T	c.(12013-12015)ttC>ttT	p.F4005F	FAT3_uc001pdi.4_Silent_p.F445F	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4005	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCAGCAGCTTCGCGGAGGTGG	0.662000										TCGA Ovarian(4;0.039)				6			3		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924294	188924294	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:188924294C>T	uc003izh.1	+	3	741	c.333C>T	c.(331-333)ttC>ttT	p.F111F	ZFP42_uc003izi.1_Silent_p.F111F|ZFP42_uc021xvm.1_Silent_p.F111F	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	111					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AAAAGGTTTTCGAAGCAAGCT	0.408000														87			35		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999996	46999996	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:46999996G>A	uc001jec.3	+	2	1251	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	GPRIN2_uc021ppt.1_Silent_p.L372L	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	372										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGTCCAGCCTGGAGGAGGTGC	0.672000														111			16		0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42546860	42546860	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42546860C>T	uc002osj.1	-	10	1352	c.1317G>A	c.(1315-1317)ggG>ggA	p.G439G	GRIK5_uc002osi.1_Silent_p.G11G|GRIK5_uc010eib.1_Silent_p.G358G	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	439						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	AGCGTTCGTTCCCCGACAGGG	0.652000														33			16		0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65108835	65108835	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65108835G>A	uc002ant.2	-	11	1870	c.1804C>T	c.(1804-1806)Cgc>Tgc	p.R602C	PIF1_uc002anr.2_Missense_Mutation_p.R150C|PIF1_uc002ans.2_Missense_Mutation_p.R293C|PIF1_uc010uiq.1_Missense_Mutation_p.R602C	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	602	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						GGGTCACAGCGAACCGCCATG	0.657000														174			36		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73142151	73142151	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:73142151C>T	uc010izf.3	+	11	1662	c.1486C>T	c.(1486-1488)Cac>Tac	p.H496Y	RGNEF_uc011csq.2_Missense_Mutation_p.H496Y|RGNEF_uc003kcy.1_Missense_Mutation_p.H496Y|RGNEF_uc021yam.1_Missense_Mutation_p.H496Y|RGNEF_uc011csr.2_Missense_Mutation_p.H183Y	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	496					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TGAGCCATCCCACATCTGTTA	0.483000														44			14		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14859437	14859437	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:14859437G>A	uc003zlm.3	-	4	1191	c.375C>T	c.(373-375)gtC>gtT	p.V125V	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	125					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAGGAGATAGACCCACAGGA	0.403000														107			60		0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163117238	163117238	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:163117238G>A	uc001gcn.3	-	4	778	c.440C>T	c.(439-441)tCc>tTc	p.S147F	RGS5_uc021pdu.1_Missense_Mutation_p.S39F|RGS5_uc021pdt.1_Missense_Mutation_p.S151F|RGS5_uc009wvb.3_Missense_Mutation_p.S39F	NM_003617	NP_003608	O15539	RGS5_HUMAN	Homo sapiens regulator of G-protein signaling 5 (RGS5), transcript variant 1, mRNA.	147	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			GCTGCTCAGGGAAGGTTCCAC	0.463000														82			30		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451832	138451832	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:138451832C>T	uc003ihe.4	-	0	1798	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	PCDH18_uc003ihf.4_Missense_Mutation_p.E464K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.E251K|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	471	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATTACAAATTCATATCGGCTT	0.423000														185			66		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313818	54313818	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54313818G>A	uc002qcj.4	-	2	1315	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.F365F|NLRP12_uc002qci.4_Silent_p.F365F|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.F365F	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	365	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTGCCTCAGAGAAGCCCAGGA	0.542000														226			90		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263555	39263555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:39263555C>T	uc001uwv.3	+	0	2383	c.2074C>T	c.(2074-2076)Cgt>Tgt	p.R692C		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	692					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTTTGTGATTCGTATCCATCC	0.562000														104			32		0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72238431	72238431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:72238431G>A	uc002llq.3	+	6	978	c.767G>A	c.(766-768)aGa>aAa	p.R256K	CNDP1_uc002lls.3_Missense_Mutation_p.R59K	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	256					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.C255F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GTGAAATGCAGAGACCAGGAT	0.413000														90			28		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51753026	51753026	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51753026C>T	uc001ryk.2	-	6	1483	c.1258G>A	c.(1258-1260)Ggc>Agc	p.G420S	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.G420S|GALNT6_uc001ryj.1_5'UTR	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	420					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACACTAGTGCCCTTGGGGAAG	0.547000														221			87		0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114641717	114641717	+	Splice_Site	SNP	G	A	A	rs149899868		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:114641717G>A	uc021osa.1	-	5	1442	c.1364_splice	c.e5+1	p.R455_splice	SYT6_uc021orz.1_Splice_Site_p.R370_splice|SYT6_uc001eev.3_Splice_Site_p.R370_splice|SYT6_uc001eeu.3_Splice_Site_p.R15_splice	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	455	C2 2.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTACCTACCGATCATAGTCC	0.512000														92			45		0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846645	47846645	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:47846645G>A	uc011dwm.2	-	2	1969	c.1935C>T	c.(1933-1935)ccC>ccT	p.P645P	PTCHD4_uc011dwn.2_Silent_p.P392P	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	645						integral to membrane	hedgehog receptor activity										AGACAAAGGAGGGGTTGAACA	0.473000														158			34		0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5968191	5968191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:5968191C>T	uc003zjq.4	-	2	2256	c.2040G>A	c.(2038-2040)atG>atA	p.M680I		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	680	Lys-rich.									breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTTTTGCCCTCATTTTAGTTA	0.343000														20			3		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13752396	13752396	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13752396G>A	uc003jfd.2	-	63	10917	c.10875C>T	c.(10873-10875)atC>atT	p.I3625I	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3625	AAA 5 (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)					TTAAAGACGTGATCTAGGAAC	0.423000									Kartagener syndrome					69			23		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170011071	170011071	+	Missense_Mutation	SNP	C	T	T	rs147817392		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170011071C>T	uc002ues.3	-	65	12407	c.12194G>A	c.(12193-12195)cGa>cAa	p.R4065Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4065					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATTATATTTTCGAATTCGGAC	0.378000														93			16		0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131191231	131191231	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:131191231C>T	uc003qch.2	-	14	2261	c.2079G>A	c.(2077-2079)aaG>aaA	p.K693K	EPB41L2_uc003qce.1_Silent_p.K71K|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc010kfl.2_Silent_p.K623K|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc003qci.3_Silent_p.K623K|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Silent_p.K90K	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	693					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTGCCCGCTTCTTCTCCTCCA	0.408000														40			32		0	0	1	0	0
AK302694	0	broad.mit.edu	37	10	30998288	30998288	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:30998288C>T	uc010qdx.1	+	7	1376	c.834C>T	c.(832-834)ttC>ttT	p.F278F						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		CTGGGGATTTCGCAGCCACGG	0.552000														37			16		0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191941038	191941038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:191941038C>T	uc002usm.2	-	3	602	c.287G>A	c.(286-288)gGa>gAa	p.G96E	STAT4_uc002usn.2_Missense_Mutation_p.G96E|STAT4_uc002uso.2_Missense_Mutation_p.G96E|STAT4_uc002usp.4_Missense_Mutation_p.G96E	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	96					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CATTGGATTTCCATGAAATTT	0.333000														93			25		0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134179608	134179608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:134179608G>A	uc009zdf.3	+	10	1410	c.1050G>A	c.(1048-1050)atG>atA	p.M350I	GLB1L3_uc010scu.1_Missense_Mutation_p.M51I|GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	350					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TTGGTTTCATGAACGGGGCCA	0.493000														20			4		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23811825	23811825	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:23811825C>T	uc003sws.4	+	14	1960	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S	STK31_uc003swt.4_Silent_p.S608S|STK31_uc011jze.2_Silent_p.S631S|STK31_uc010kuq.3_Silent_p.S608S	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	631							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ACTTGCTATCCATTAAGAAGA	0.313000														67			26		0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9864270	9864270	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:9864270C>T	uc004csu.1	+	3	2412	c.2322C>T	c.(2320-2322)ctC>ctT	p.L774L		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	774					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)				AGGTGGGCCTCACGAGGGGCT	0.587000														8			15		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19760621	19760621	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19760621T>G	uc002nnh.4	-	17	2492	c.2464A>C	c.(2464-2466)Acc>Ccc	p.T822P	ATP13A1_uc002nne.3_5'UTR|ATP13A1_uc002nnf.4_Missense_Mutation_p.T190P|ATP13A1_uc002nng.3_Missense_Mutation_p.T704P	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	822					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGGGGGTCGGTGGCCTGCAGG	0.692000														33			7		0	0	1	0	0
DPH3	285381	broad.mit.edu	37	3	16306497	16306497	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:16306497G>A	uc003cau.3	-	1	1	c.-112_splice	c.e1-1		DPH3_uc003cat.4_5'Flank|DPH3_uc003cav.3_Splice_Site|OXNAD1_uc010her.2_5'Flank|OXNAD1_uc003caw.3_5'Flank|OXNAD1_uc003cax.3_5'Flank	NM_206831	NP_996662	Q96FX2	DPH3_HUMAN	Homo sapiens DPH3, KTI11 homolog (S. cerevisiae) (DPH3), transcript variant 1, mRNA.						negative regulation of protein secretion|peptidyl-diphthamide biosynthetic process from peptidyl-histidine|positive regulation of binding	cytoplasm|nucleus	metal ion binding|protein binding			large_intestine(2)	2						GCCGGGCAAGGACTAGCCCTT	0.657000														8			4		0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190328438	190328438	+	Missense_Mutation	SNP	G	A	A	rs144965982		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:190328438G>A	uc002uql.1	+	9	1016	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	WDR75_uc002uqm.1_Missense_Mutation_p.R255Q|WDR75_uc002uqn.1_Missense_Mutation_p.R97Q	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	319						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			ATTATTCACCGAAACCTTGAA	0.368000														81			38		0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65107856	65107856	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65107856C>T	uc001odm.3	+	2	166	c.33_splice	c.e2-1	p.L11_splice	DPF2_uc010roe.2_Splice_Site_p.L11_splice	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	11					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TTCCCTGCAGCCTTGGGGAGC	0.557000														232			48		0	0	1	0	0
TCRBV14S1	0	broad.mit.edu	37	7	142423748	142423749	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142423748_142423749GG>AA	uc010lol.1	+	1	437_438	c.404_405GG>AA	c.(403-405)agg>aAA	p.R135K	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron|TCRBV14S1_uc011ksj.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GCAAGAACAAGGAGACTCCTCC	0.550000														21			7		0	0	1	0	0
C20orf151	140893	broad.mit.edu	37	20	60987918	60987918	+	Missense_Mutation	SNP	C	T	T	rs145375194	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:60987918C>T	uc002ycw.2	-	11	1911	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	572										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)			TCATCCAGTTCGTCGGACTCT	0.652000														74			29		0	0	1	0	0
ENTPD2	954	broad.mit.edu	37	9	139944958	139944958	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139944958G>A	uc004ckw.2	-	5	861	c.807C>T	c.(805-807)ggC>ggT	p.G269G	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Silent_p.G269G	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	269						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGGTGGAAAAGCCCCTCGGCC	0.642000											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			9		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7976167	7976167	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7976167G>A	uc002gjy.1	-	14	2289	c.2028C>T	c.(2026-2028)atC>atT	p.I676I		NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	676	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TGCGCTGGCGGATGTCGTGTG	0.602000										Multiple Myeloma(8;0.094)				50			6		0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97373078	97373078	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:97373078G>A	uc002swv.3	-	8	1031	c.995C>T	c.(994-996)tCc>tTc	p.S332F	LMAN2L_uc002swu.3_Missense_Mutation_p.S321F|LMAN2L_uc010yuu.2_Missense_Mutation_p.S185F|LMAN2L_uc010yut.2_Missense_Mutation_p.S187F|LMAN2L_uc010yuv.2_Missense_Mutation_p.S174F|LMAN2L_uc010yuw.2_Missense_Mutation_p.S176F|LMAN2L_uc010yux.2_Missense_Mutation_p.S176F	NM_001142292	NP_001135764	Q9H0V9	LMA2L_HUMAN	Homo sapiens lectin, mannose-binding 2-like (LMAN2L), transcript variant 1, mRNA.	321					ER to Golgi vesicle-mediated transport|protein folding|protein transport	ER to Golgi transport vesicle|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						AAACACCAGGGAGAAAAAGAC	0.522000														35			19		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115168320	115168320	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:115168320C>T	uc001efd.1	-	3	988	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.E96K	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	96										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		TTCTTATTTTCATTCTCACTT	0.343000														98			35		0	0	1	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435182	104435182	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:104435182G>A	uc003kok.3	+	0		c.8G>A								Homo sapiens RAB9B, member RAS oncogene family pseudogene 1 (RAB9BP1), non-coding RNA.																		TTAACGGCAGGAAAATCATCA	0.358000														35			10		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248731	20248731	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20248731G>A	uc010tku.2	+	0	250	c.250G>A	c.(250-252)Gac>Aac	p.D84N		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AATGCTCATAGACTTCTTTGT	0.443000														276			109		0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9674963	9674963	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:9674963C>T	uc010vvb.2	-	5	794	c.781G>A	c.(781-783)Gag>Aag	p.E261K	DHRS7C_uc010cof.3_Missense_Mutation_p.E260K	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	261						extracellular region	binding|oxidoreductase activity	p.E260V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CGCATCACCTCCTCCGCCACC	0.622000														10			11		0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188243719	188243719	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:188243719C>T	uc010frt.3	-	6	831	c.448G>A	c.(448-450)Gga>Aga	p.G150R	CALCRL_uc002upv.4_Missense_Mutation_p.G150R	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	150						integral to plasma membrane		p.G150*(2)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ATAGACAATCCGTGTCCAATT	0.294000														167			18		0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76348532	76348532	+	Splice_Site	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:76348532T>A	uc003ket.3	+	9	1748	c.1366_splice	c.e9-1	p.F456_splice		NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	456	FHA.				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)		CTTTCTAAGTTTCATGCAGAA	0.299000														49			7		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520385	33520385	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:33520385C>T	uc002hjd.2	-	0	1028	c.942G>A	c.(940-942)ggG>ggA	p.G314G		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	314	DUF6 2.					integral to membrane											CCAGCACAACCCCTGCCGCCA	0.562000														74			47		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	394645	394645	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:394645G>A	uc001ifp.3	-	25	3257	c.3167C>T	c.(3166-3168)aCc>aTc	p.T1056I	DIP2C_uc009xhi.1_Missense_Mutation_p.T442I	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1056						nucleus	catalytic activity|transcription factor binding	p.I1055K(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGGACGGACGGTTATTGGCAC	0.547000														163			59		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37725472	37725472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:37725472C>T	uc003chd.3	+	17	2086	c.2033C>T	c.(2032-2034)tCc>tTc	p.S678F		NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	678					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TTCAATGTTTCCCGGGAGCTC	0.473000														38			16		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41542137	41542137	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:41542137G>A	uc003xok.3	-	36	4546	c.4462C>T	c.(4462-4464)Cga>Tga	p.R1488*	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Nonsense_Mutation_p.R804*|ANK1_uc003xoi.3_Nonsense_Mutation_p.R1488*|ANK1_uc003xoj.3_Nonsense_Mutation_p.R1488*|ANK1_uc003xol.3_Nonsense_Mutation_p.R1488*|ANK1_uc003xom.3_Nonsense_Mutation_p.R1529*	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1488	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGGCTCTGTCGGCCGGAACCC	0.592000														40			14		0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76828852	76828852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:76828852C>T	uc003ugb.3	-	0	299	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	87					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TTTACGATTTCCTTGAGGTTT	0.507000														88			31		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187201178	187201178	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187201178C>T	uc003iza.1	+	7	1101	c.768C>T	c.(766-768)ctC>ctT	p.L256L		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	256	Apple 3.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	ATCTTTGTCTCCTTAAAACAT	0.373000														75			29		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70954525	70954525	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70954525C>T	uc001swb.4	-	14	3734	c.3704G>A	c.(3703-3705)gGa>gAa	p.G1235E	PTPRB_uc010sto.2_Missense_Mutation_p.G1145E|PTPRB_uc010stp.2_Missense_Mutation_p.G1145E|PTPRB_uc001swc.4_Missense_Mutation_p.G1453E|PTPRB_uc001swa.4_Missense_Mutation_p.G1365E|PTPRB_uc001swd.4_Missense_Mutation_p.G1452E|PTPRB_uc009zrr.2_Missense_Mutation_p.G1332E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1235	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTACTTCCTTCCAGGAACAAG	0.498000														43			15		0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793021	53793021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53793021G>A	uc002qbk.3	-	0	1855	c.607C>T	c.(607-609)Cct>Tct	p.P203S		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	203					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TGTCCACAAGGAATAAAAACA	0.438000														81			25		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042346	74042346	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74042346G>A	uc002sjr.1	+	2	1117	c.996G>A	c.(994-996)ggG>ggA	p.G332G		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	332										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CTGAGCTTGGGGACATTTCAA	0.438000														37			16		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139839014	139839014	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:139839014G>A	uc003yvd.3	-	5	1303	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	286	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AAACCTTGGGGGAACACATCC	0.522000										HNSCC(7;0.00092)				41			5		0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281892	49281892	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:49281892G>A	uc010acw.1	+	1	1229	c.939G>A	c.(937-939)aaG>aaA	p.K313K	CYSLTR2_uc010acx.1_Silent_p.K313K|CYSLTR2_uc010acy.1_Silent_p.K313K|CYSLTR2_uc010acz.1_Silent_p.K313K|CYSLTR2_uc010ada.1_Silent_p.K313K|CYSLTR2_uc010adb.1_Silent_p.K313K|CYSLTR2_uc010adc.1_Silent_p.K313K|CYSLTR2_uc010add.1_Silent_p.K313K|CYSLTR2_uc001vck.2_Silent_p.K313K|CYSLTR2_uc021rjl.1_Silent_p.K313K	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	313					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	AGAATTTTAAGGACAGACTAA	0.443000														67			34		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107078517	107078517	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:107078517C>T	uc021ser.1	-	135		c.6157G>A								Parts of antibodies, mostly variable regions.																		CAACGACGATCCATCCTATCC	0.522000														106			17		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138578	126138578	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:126138578C>T	uc001uhe.1	+	8	2567	c.2559C>T	c.(2557-2559)ccC>ccT	p.P853P	TMEM132B_uc001uhf.1_Silent_p.P365P	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	853						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)		CCCAGTCTCCCATGGAAGGGA	0.522000														54			12		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280073	152280073	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152280073C>T	uc001ezu.1	-	2	7325	c.7289G>A	c.(7288-7290)cGg>cAg	p.R2430Q		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2430	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R2430W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTCCCGGTCCGTCCATGGGC	0.587000									Ichthyosis					363			95		0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3140824	3140824	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:3140824G>A	uc001lxk.2	-	6	802	c.644C>T	c.(643-645)cCc>cTc	p.P215L	OSBPL5_uc010qxq.1_Missense_Mutation_p.P126L|OSBPL5_uc009ydw.2_Missense_Mutation_p.P147L|OSBPL5_uc001lxl.2_Missense_Mutation_p.P147L|OSBPL5_uc009ydx.3_Missense_Mutation_p.P239L	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	215	PH.				Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GCTGGGCAGGGGCTGTGTGAT	0.642000														58			32		0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24654769	24654769	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24654769G>A	uc001wmv.1	-	12	2195	c.1174C>T	c.(1174-1176)Ctg>Ttg	p.L392L	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_Silent_p.L54L|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Silent_p.L256L|IPO4_uc001wmy.1_Silent_p.L256L|IPO4_uc001wmz.2_Silent_p.L392L	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	392					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AGTGGGGGCAGCAGTCTGGAT	0.552000														57			25		0	0	1	0	0
PTAFR	5724	broad.mit.edu	37	1	28477113	28477113	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:28477113G>A	uc009vte.3	-	2	755	c.420C>T	c.(418-420)gtC>gtT	p.V140V	PTAFR_uc021ojz.1_Silent_p.V140V|PTAFR_uc001bpl.3_Silent_p.V140V|PTAFR_uc001bpm.4_Silent_p.V140V|PTAFR_uc021oka.1_Silent_p.V140V	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	140					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCCAGATGACCAAGGACA	0.577000														86			29		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95604975	95604975	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:95604975G>A	uc001tdp.4	-	1	309	c.85C>T	c.(85-87)Cct>Tct	p.P29S	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	29					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGTGCAATAGGAGGTGGGGCT	0.428000														163			89		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833569	168833569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:168833569G>A	uc011bpj.1	-	7	2494	c.2091C>T	c.(2089-2091)ctC>ctT	p.L697L	MECOM_uc010hwk.1_Silent_p.L532L|MECOM_uc003ffj.3_Silent_p.L574L|MECOM_uc003ffi.3_Silent_p.L509L|MECOM_uc011bpi.1_Silent_p.L510L|MECOM_uc003ffn.3_Silent_p.L509L|MECOM_uc003ffk.2_Silent_p.L509L|MECOM_uc003ffl.2_Silent_p.L669L|MECOM_uc011bpk.1_Silent_p.L509L|MECOM_uc010hwn.2_Silent_p.L697L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAAAAAATGGGAGGGGAAACA	0.418000														85			37		0	0	1	0	0
UNCX	340260	broad.mit.edu	37	7	1275593	1275593	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:1275593C>T	uc011jvw.2	+	2	576	c.576C>T	c.(574-576)atC>atT	p.I192I		NM_001080461	NP_001073930	A6NJT0	UNC4_HUMAN	Homo sapiens UNC homeobox (UNCX), mRNA.	192					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CGGAGGAGATCGCGCGCAAGG	0.652000														17			7		0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136602719	136602719	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:136602719G>A	uc003lbo.3	-	1	403	c.212C>T	c.(211-213)cCc>cTc	p.P71L	SPOCK1_uc003lbp.3_Missense_Mutation_p.P71L	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	71					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCTTGTTGGGATTCCAGTT	0.363000														98			45		0	0	1	0	0
FGFBP1	9982	broad.mit.edu	37	4	15938219	15938219	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:15938219G>A	uc003gom.3	-	2	332	c.37C>T	c.(37-39)Cta>Tta	p.L13L	FGFBP1_uc021xml.1_Silent_p.L13L	NM_005130	NP_005121	Q14512	FGFP1_HUMAN	Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.	13					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						GCAGCCAGTAGGAGGAAGGAG	0.522000														90			16		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102995	22102995	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22102995C>T	uc010tmc.2	-	0	4	c.4G>A	c.(4-6)Gga>Aga	p.G2R		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTGGTCTTTCCCATGTCTTTT	0.438000														92			25		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8174515	8174515	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8174515C>T	uc002mjf.3	-	34	4473	c.4456_splice	c.e34+1	p.D1486_splice		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1486						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATGGACTCACCCACGCAGCCC	0.567000														74			30		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36227703	36227703	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36227703C>T	uc021usv.1	+	30	7272	c.7272C>T	c.(7270-7272)ttC>ttT	p.F2424F	MLL2_uc021usu.1_Silent_p.F1238F	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	0	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AGGATGGGTTCAGCGTTGAGG	0.577000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				67			27		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153660163	153660163	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153660163G>A	uc001fcs.4	+	13	2567	c.2146G>A	c.(2146-2148)Ggc>Agc	p.G716S	NPR1_uc010pdz.2_Missense_Mutation_p.G462S|NPR1_uc010pea.2_Missense_Mutation_p.G194S	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	716	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCCTGTGCGGGGCTCCCAGGC	0.597000														125			43		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76924069	76924069	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:76924069C>T	uc001oyb.2	+	46	6699	c.6427C>T	c.(6427-6429)Ccc>Tcc	p.P2143S	MYO7A_uc001oyc.2_Missense_Mutation_p.P2103S|MYO7A_uc001oye.2_Non-coding_Transcript	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	2143	FERM 2.				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						CCTCATCGATCCCAAAACGAA	0.527000														5			7		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55210706	55210706	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:55210706C>T	uc003jql.3	+	13	1960	c.1768C>T	c.(1768-1770)Ccc>Tcc	p.P590S	IL31RA_uc003jqm.3_Missense_Mutation_p.P571S|IL31RA_uc003jqn.3_Missense_Mutation_p.P590S|IL31RA_uc021xyq.1_Missense_Mutation_p.P571S|IL31RA_uc003jqo.3_Missense_Mutation_p.P448S	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	558					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)				GCCCACCGTTCCCAACCCTGC	0.428000														98			22		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238277716	238277716	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:238277716G>A	uc002vwl.2	-	9	4675	c.4390C>T	c.(4390-4392)Cga>Tga	p.R1464*	COL6A3_uc002vwo.2_Nonsense_Mutation_p.R1258*|COL6A3_uc010znj.1_Nonsense_Mutation_p.R857*	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1464	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R1464*(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGAGTCTTCGAACAATCCTG	0.473000														36			20		0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628411	173628411	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:173628411C>T	uc001gja.1	-	1	208	c.147G>A	c.(145-147)gaG>gaA	p.E49E	ANKRD45_uc001gjb.4_Silent_p.E49E	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	65										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TCTGCAAACCCTCTACATCCC	0.453000														34			20		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88847478	88847478	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:88847478G>A	uc011khi.2	+	1	656	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	40						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GGATTTTGCAGAAAAGAAGTC	0.348000										HNSCC(36;0.09)				70			26		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70946680	70946680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70946680G>A	uc001swb.4	-	18	4640	c.4610C>T	c.(4609-4611)cCt>cTt	p.P1537L	PTPRB_uc010sto.2_Missense_Mutation_p.P1447L|PTPRB_uc010stp.2_Missense_Mutation_p.P1447L|PTPRB_uc001swc.4_Missense_Mutation_p.P1755L|PTPRB_uc001swa.4_Missense_Mutation_p.P1667L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1537	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTTGCTGTTAGGATTTTCGGC	0.468000														93			28		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160113175	160113175	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:160113175G>A	uc003lym.1	-	5	1228	c.381C>T	c.(379-381)ttC>ttT	p.F127F	ATP10B_uc003lyp.2_Silent_p.F127F|ATP10B_uc011deg.1_Silent_p.F171F|ATP10B_uc003lyo.2_5'Flank	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	127					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(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATGATGACGAACAGGACAA	0.423000														35			16		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54905628	54905628	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54905628G>A	uc001sgc.4	+	7	856	c.777G>A	c.(775-777)tgG>tgA	p.W259*	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Nonsense_Mutation_p.W209*	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	259					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGGAGCGCTGGATTATCAGTA	0.413000														98			51		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749298	51749298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:51749298C>T	uc010hlv.3	+	3	1748	c.1509C>T	c.(1507-1509)ccC>ccT	p.P503P	GRM2_uc003dbo.4_5'UTR|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	503					synaptic transmission	integral to plasma membrane		p.E502E(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GCAGTGAGCCCTGCCTCCAGA	0.622000														25			14		0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108970464	108970464	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:108970464C>T	uc003yms.3	-	4	1118	c.460G>A	c.(460-462)Gga>Aga	p.G154R	RSPO2_uc003ymq.3_Missense_Mutation_p.G87R|RSPO2_uc003ymr.3_Missense_Mutation_p.G90R	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	154	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CTACAAGTTCCCCATTCGCTC	0.373000														65			24		0	0	1	0	0
FAM75D5	347127	broad.mit.edu	37	9	84530438	84530438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:84530438C>T	uc011lst.2	+	3	460	c.359C>T	c.(358-360)tCt>tTt	p.S120F						Homo sapiens family with sequence similarity 75, member D5, pseudogene (FAM75D5), non-coding RNA.																		CGACTGCTGTCTTGGGAGTCC	0.532000														41			4		0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63235883	63235883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63235883C>T	uc001nwy.2	-	3	604	c.430G>A	c.(430-432)Gag>Aag	p.E144K	HRASLS5_uc001nwz.2_Missense_Mutation_p.E134K|HRASLS5_uc010rmq.1_Missense_Mutation_p.E144K|HRASLS5_uc009yos.2_Intron	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	144								p.Y143N(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						GCCCAGTGCTCATAGCCAATT	0.408000														111			44		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632771	122632771	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122632771C>T	uc003efz.1	-	14	2370	c.2066G>A	c.(2065-2067)cGa>cAa	p.R689Q	SEMA5B_uc011bju.1_Missense_Mutation_p.R631Q|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.R689Q|SEMA5B_uc010hro.1_Missense_Mutation_p.R631Q|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	689	TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCTGCAACTTCGCTGGCGGAC	0.682000														60			30		0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17986820	17986820	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17986820C>T	uc002nhr.4	+	4	950	c.603C>T	c.(601-603)ggC>ggT	p.G201G		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	201					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGCTAAGTGGCTTCTGGGTTG	0.622000														76			18		0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186862233	186862233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:186862233C>T	uc001gsc.3	+	3	411	c.206C>T	c.(205-207)cCt>cTt	p.P69L	PLA2G4A_uc010pos.2_Missense_Mutation_p.P69L	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	69	C2.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GACATAAACCCTGTGTGGAAT	0.378000														217			68		0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580874	580874	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:580874G>A	uc002kko.1	+	0	506	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	156	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						TGGGGACGGCGAAGTGAACGA	0.537000														22			40		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10788473	10788473	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:10788473G>A	uc002czz.1	-	0	330	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	86					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TATAGCGAGAGAAGAGTGCGG	0.667000														65			31		0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3445789	3445789	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:3445789G>A	uc003ghc.3	+	4	502	c.499G>A	c.(499-501)Ggc>Agc	p.G167S	HGFAC_uc010icw.3_Missense_Mutation_p.G167S	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	167	EGF-like 1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGTGCCTCCGGCCCCTGCCT	0.662000														50			27		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881273	142881273	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142881273G>A	uc011ksw.2	+	0	762	c.762G>A	c.(760-762)atG>atA	p.M254I		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	254					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					ACCCCAGCATGGAGGCTCACA	0.488000														126			38		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429363	57429363	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:57429363G>A	uc002xzw.3	+	0	1328	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AAGAGAGAGCGAGCAGAGAGA	0.642000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				13			6		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158590148	158590148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158590148C>T	uc001fst.1	-	43	6428	c.6229G>A	c.(6229-6231)Gaa>Aaa	p.E2077K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2077					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCCGAATTTCATTCAGGGAG	0.473000														42			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431928	179431928	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179431928G>A	uc021vsy.1	-	274	71452	c.71227C>T	c.(71227-71229)Cca>Tca	p.P23743S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P17438S|TTN_uc021vta.1_Missense_Mutation_p.P17371S|TTN_uc021vtb.1_Missense_Mutation_p.P17246S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24670	Fibronectin type-III 72.						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)			TCTTGAAGTGGTGGAGACCAT	0.448000														158			47		0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25610343	25610343	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:25610343C>T	uc011djw.2	+	35	4281	c.3913C>T	c.(3913-3915)Cct>Tct	p.P1305S	LRRC16A_uc010jpy.3_Missense_Mutation_p.P1299S	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	1305					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GAAAAAAGTTCCTTCAGACAA	0.473000														116			46		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531646	50531646	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50531646G>A	uc021pqb.1	+	0	1056	c.1056G>A	c.(1054-1056)agG>agA	p.R352R	C10orf71_uc021pqa.1_Silent_p.R351R|C10orf71_uc021pqc.1_Silent_p.R352R	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	352										endometrium(1)	1						GGGGGTGCAGGGATCCAGGAG	0.582000														32			16		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5672668	5672668	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:5672668C>T	uc001qnm.2	-	25	2866	c.2794G>A	c.(2794-2796)Gac>Aac	p.D932N		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	937						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTGATCTGGTCGCTGATGTCC	0.527000														63			11		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53420603	53420603	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:53420603C>T	uc001vhi.3	-	0	2173	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	PCDH8_uc001vhj.3_Missense_Mutation_p.E657K	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	657	Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TCGCGCGGCTCCTGCTGCTGC	0.711000														24			13		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50413309	50413309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:50413309G>A	uc003daq.3	-	19	1814	c.1776C>T	c.(1774-1776)atC>atT	p.I592I	CACNA2D2_uc003dap.3_Silent_p.I592I	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	592					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGCTCCGACGGATCTGGAAGG	0.592000														94			9		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20955880	20955880	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20955880G>A	uc010vbe.2	-	57	11449	c.11449C>T	c.(11449-11451)Ctg>Ttg	p.L3817L	DNAH3_uc010vbd.2_Silent_p.L1252L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3817					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCCTCAAACAGCTGGTTGGTT	0.547000														54			24		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70926082	70926082	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70926082G>A	uc021rvq.1	+	0	1866	c.1866G>A	c.(1864-1866)aaG>aaA	p.K622K	ADAM21_uc001xmd.3_Silent_p.K622K	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	622	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCATCCATAAGAAGTGTGTCA	0.453000														90			12		0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	129231625	129231625	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:129231625C>T	uc010qun.2	+	47	5057	c.4993C>T	c.(4993-4995)Cct>Tct	p.P1665S	DOCK1_uc001ljt.3_Missense_Mutation_p.P1644S|DOCK1_uc009yaq.3_Missense_Mutation_p.P639S	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1644					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.D1665Y(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CTCATCCCGCCCTCTGTCTGT	0.612000														91			55		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030026	95030026	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:95030026G>A	uc010avd.3	+	1	592	c.318G>A	c.(316-318)gaG>gaA	p.E106E	SERPINA4_uc001ydk.3_Silent_p.E69E|SERPINA4_uc001ydl.3_Silent_p.E69E	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	69					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCGCTTCGGAGACCCCGGGGA	0.602000														79			35		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504631	70504631	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:70504631G>A	uc001dep.3	+	18	3040	c.3010G>A	c.(3010-3012)Gat>Aat	p.D1004N	LRRC7_uc009wbg.3_Missense_Mutation_p.D288N|LRRC7_uc001deq.3_Missense_Mutation_p.D245N	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1004						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						CCCAATGCTGGATGATGAGAT	0.468000														55			16		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69684658	69684658	+	Missense_Mutation	SNP	C	T	T	rs144426334		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:69684658C>T	uc010kak.3	+	7	1805	c.1529C>T	c.(1528-1530)cCt>cTt	p.P510L	BAI3_uc003pev.4_Missense_Mutation_p.P510L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	510					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A509P(1)|p.P510T(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATTGCAGCACCTTATGAAATA	0.413000														65			7		0	0	1	0	0
TNFSF15	9966	broad.mit.edu	37	9	117553124	117553124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117553124C>T	uc004bjh.3	-	3	480	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	TNFSF15_uc004bjg.3_Missense_Mutation_p.E63K	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	122					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						AGGCCTAGTTCATGTTCCCAG	0.448000														66			21		0	0	1	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940337	67940338	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:67940337_67940338GG>AA	uc001xjk.3	-	2	713_714	c.303_304CC>TT	c.(301-306)tgcccc>tgTTcc	p.P102S	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.P102S	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	102						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TAGTCCCAGGGGCAGGCGTTGA	0.629000														8			4		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57432321	57432321	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57432321G>A	uc001smw.4	-	16	1875	c.1635C>T	c.(1633-1635)tcC>tcT	p.S545S	MYO1A_uc010sqz.2_Silent_p.S383S|MYO1A_uc009zpd.3_Silent_p.S545S	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	545	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CAGGAAACAAGGACCGAAGGA	0.532000														100			26		0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121774677	121774677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:121774677C>T	uc003idn.3	-	2	446	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	PRDM5_uc003ido.3_Missense_Mutation_p.E66K|PRDM5_uc010ine.3_Missense_Mutation_p.E66K|PRDM5_uc010inf.3_Missense_Mutation_p.E66K|PRDM5_uc003idp.1_Missense_Mutation_p.E66K	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	66	SET.				histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.G65*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TACAAAACTTCTCCCTTACTC	0.453000														307			68		0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415108	88415108	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:88415108A>T	uc010ikm.3	-	4	1416	c.844T>A	c.(844-846)Tcg>Acg	p.S282T	SPARCL1_uc011cdc.2_Missense_Mutation_p.S157T|SPARCL1_uc003hqs.4_Missense_Mutation_p.S282T|SPARCL1_uc011cdd.2_Missense_Mutation_p.S157T	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	282					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	p.S282L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTGACGTTCGATGCATTTTCC	0.413000														316			125		0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119025267	119025267	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:119025267G>A	uc001pvs.3	+	4	858	c.522G>A	c.(520-522)caG>caA	p.Q174Q	ABCG4_uc009zar.3_Silent_p.Q174Q	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	174	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	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)		GTGAGAAGCAGGAGGTGAAGA	0.582000														26			9		0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354698	45354698	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:45354698C>T	uc002xsl.3	+	1	1120	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	341						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				AGACAGGCCTCCCTGGAGACT	0.597000														63			20		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71491387	71491387	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:71491387C>T	uc003kbw.4	+	4	2446	c.2205C>T	c.(2203-2205)ctC>ctT	p.L735L	MAP1B_uc010iyw.1_Silent_p.L752L|MAP1B_uc010iyx.1_Silent_p.L609L|MAP1B_uc010iyy.1_Silent_p.L609L	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	735	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TTAAGAAGCTCCCTAAAGACG	0.388000														65			37		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52585170	52585170	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:52585170C>T	uc002lfs.3	-	9	1019	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	CCDC68_uc002lft.3_Missense_Mutation_p.E283K	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	283										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TTAACCTTTTCTCTGAGATTT	0.368000														25			9		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922679	24922679	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24922679C>T	uc001ywo.3	+	0	2139	c.1665C>T	c.(1663-1665)tcC>tcT	p.S555S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	555					cell differentiation|multicellular organismal development|spermatogenesis			p.S555S(2)		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)		CAGTCATTTCCACTGTCACAA	0.488000														139			40		0	0	1	0	0
SLC36A1	206358	broad.mit.edu	37	5	150856304	150856304	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:150856304C>T	uc003luc.3	+	8	1193	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L	SLC36A1_uc003lub.1_Silent_p.L326L|SLC36A1_uc010jhw.1_Silent_p.L326L	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA.	326					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	AACCCTCAACCTGCCCAACTG	0.498000														42			15		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8615558	8615558	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8615558C>T	uc002mkg.3	-	8	930	c.792G>A	c.(790-792)ggG>ggA	p.G264G		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	264	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGGGCGGGATCCCAATAACCT	0.602000														77			24		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220494887	220494888	+	Missense_Mutation	DNP	CC	TT	TT	rs139813777		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220494887_220494888CC>TT	uc002vmo.4	+	5	914_915	c.705_706CC>TT	c.(703-708)ccccgg>ccTTgg	p.R236W	SLC4A3_uc002vmn.2_Missense_Mutation_p.R236W|SLC4A3_uc002vmp.4_Missense_Mutation_p.R209W|SLC4A3_uc010fwm.3_5'UTR|SLC4A3_uc010fwn.1_5'Flank	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	209					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCCAGCCCCCGGGCCCGGGC	0.693000														15			3		0	0	1	0	0
MTX1	4580	broad.mit.edu	37	1	155178747	155178747	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155178747G>A	uc001fjb.3	+	0	258	c.152G>A	c.(151-153)gGg>gAg	p.G51E	THBS3_uc010pfu.2_5'Flank|THBS3_uc001fix.3_5'Flank|THBS3_uc009wqi.3_5'Flank|THBS3_uc001fiy.3_5'Flank|THBS3_uc010pfv.2_5'Flank|THBS3_uc001fja.2_Non-coding_Transcript|THBS3_uc009wqj.1_5'UTR|MTX1_uc001fjc.3_Missense_Mutation_p.G51E	NM_002455	NP_002446	Q13505	MTX1_HUMAN	Homo sapiens metaxin 1 (MTX1), transcript variant 1, mRNA.	51					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCGCCTTCAGGGGTTCGGGGC	0.721000														12			8		0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58701016	58701016	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:58701016C>T	uc002iyt.2	+	1	839	c.607C>T	c.(607-609)Ccg>Tcg	p.P203S	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	203	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TCAGGATGACCCGAAGGATGA	0.507000														92			49		0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31577468	31577468	+	Missense_Mutation	SNP	C	T	T	rs142997193		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31577468C>T	uc002wyi.3	-	8	664	c.571G>A	c.(571-573)Gga>Aga	p.G191R		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	191					spermatogenesis			p.H190Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						ATGTAATCTCCGTGTATCATC	0.488000														57			13		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87656093	87656093	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:87656093C>T	uc003ydx.3	-	9	1112	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	CNGB3_uc010maj.3_Missense_Mutation_p.R217Q	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	355					signal transduction|visual perception	integral to membrane	cGMP binding	p.R355*(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCCAGTTGTTCGAATAACTCT	0.358000														63			30		0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	162683579	162683579	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:162683579G>A	uc021zhu.1	-	3	622	c.531C>T	c.(529-531)gaC>gaT	p.D177D	PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_5'UTR|PARK2_uc010kkd.3_Intron|PARK2_uc003qtx.4_Silent_p.D130D|PARK2_uc021zhs.1_Silent_p.D130D|PARK2_uc021zht.1_Intron|PARK2_uc003qty.4_Silent_p.D130D|PARK2_uc003qtz.4_Intron|PARK2_uc021zhv.1_Silent_p.D51D|PARK2_uc021zhw.1_5'UTR|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Silent_p.D130D|PARK2_uc010kke.1_Silent_p.D130D	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	130					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CTGGTGGTGAGTCCTTCCTGC	0.532000														37			27		0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37916554	37916554	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:37916554G>A	uc003tfn.3	+	11	1311	c.939G>A	c.(937-939)atG>atA	p.M313I		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	313					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TGAAAAGCATGAAATTAGAAA	0.343000														58			16		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732434	37732434	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:37732434G>A	uc003xkm.2	-	2	1277	c.1221C>T	c.(1219-1221)gaC>gaT	p.D407D	RAB11FIP1_uc003xkn.2_Silent_p.D407D|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Silent_p.D255D	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	407					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TTTCCCTGAGGTCCCCACTGA	0.562000														74			25		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6064119	6064119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:6064119C>T	uc010idb.1	-	9	1966	c.1480G>A	c.(1480-1482)Gag>Aag	p.E494K	JAKMIP1_uc010idc.1_Missense_Mutation_p.E309K|JAKMIP1_uc010idd.1_Splice_Site_p.E494_splice|JAKMIP1_uc003giu.4_Missense_Mutation_p.E494K|JAKMIP1_uc011bwc.2_Missense_Mutation_p.E329K|JAKMIP1_uc003giv.4_Missense_Mutation_p.E494K|JAKMIP1_uc010ide.3_Missense_Mutation_p.E494K	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	494	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.R493L(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCTGGTACTCCCGGGTCAGC	0.587000														74			26		0	0	1	0	0
LOC100507433	100507433	broad.mit.edu	37	19	38102515	38102515	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38102515C>T	uc002ogq.3	+	4	701	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	LOC100507433_uc002ogu.3_Missense_Mutation_p.R112C|LOC100507433_uc010efq.3_Missense_Mutation_p.R80C	NM_152606	NP_689819			Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA.									p.R112C(1)									TAAAACTCTTCGTCTGAAAGG	0.333000														194			25		0	0	1	0	0
HOXB13	10481	broad.mit.edu	37	17	46805893	46805893	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:46805893C>T	uc002ioa.3	-	0	219	c.63G>A	c.(61-63)gcG>gcA	p.A21A		NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	21					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GCCCCCCTCCCGCTCCCAGCA	0.657000														16			17		0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39978641	39978641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39978641G>A	uc002hxv.2	+	9	2055	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q	FKBP10_uc002hxw.1_Missense_Mutation_p.R341Q	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	577	EF-hand 2.				protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GACGAGGAGCGGGTCCACGAG	0.617000														8			8		0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2408546	2408546	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:2408546G>A	uc022brx.1	-	0	215	c.215C>T	c.(214-216)cCc>cTc	p.P72L	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.P72L|ZBED1_uc004cqg.2_Missense_Mutation_p.P72L|ZBED1_uc022brw.1_Missense_Mutation_p.P72L	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	72						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAATTCCTCGGGGTGGTTCTT	0.582000														96			30		0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51818291	51818291	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:51818291C>T	uc002lfj.4	+	8	1355	c.1287C>T	c.(1285-1287)acC>acT	p.T429T	POLI_uc010xds.2_Silent_p.T350T|POLI_uc002lfk.4_Silent_p.T326T|POLI_uc010dpg.3_Silent_p.T25T	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	429					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)		TTCACCTTACCCTTCTAAGTG	0.338000								DNA polymerases (catalytic subunits)						70			17		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367863	107367863	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107367863C>T	uc011lvq.2	-	0	46	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCAGAAAGTCCCTTCAGAAAA	0.368000														77			16		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203667416	203667416	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203667416C>T	uc001gzw.3	+	2	1222	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	ATP2B4_uc001gzv.3_Silent_p.L109L|ATP2B4_uc009xaq.3_Silent_p.L109L	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	109					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTTATCATCCTGGAGATTGC	0.483000														104			32		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56300731	56300731	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56300731G>A	uc010ygf.2	-	9	3259	c.2548C>T	c.(2548-2550)Caa>Taa	p.Q850*	NLRP11_uc002qlz.3_Nonsense_Mutation_p.Q697*|NLRP11_uc002qmb.3_Nonsense_Mutation_p.Q751*|NLRP11_uc002qmc.3_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	850							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GCAATATATTGACAGATATCG	0.418000														143			38		0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111861250	111861250	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111861250G>A	uc001eas.3	+	8	1022	c.865G>A	c.(865-867)Ggt>Agt	p.G289S	CHIA_uc001ear.3_Missense_Mutation_p.G181S|CHIA_uc001eaq.3_Missense_Mutation_p.G181S|CHIA_uc009wgc.3_Missense_Mutation_p.G181S|CHIA_uc001eat.3_Missense_Mutation_p.G128S|CHIA_uc001eav.3_Missense_Mutation_p.G128S|CHIA_uc001eau.3_Missense_Mutation_p.G128S|CHIA_uc009wgd.3_Missense_Mutation_p.G128S	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	289					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CTCTGGTGCTGGTCCTGCTGG	0.537000														103			60		0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73677285	73677285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:73677285G>A	uc001ouo.3	+	4	1346	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	199					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CTTTGAGAAGGAAGGGGACCA	0.562000														25			6		0	0	1	0	0
TAB2	23118	broad.mit.edu	37	6	149720247	149720247	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:149720247T>C	uc003qmj.3	+	5	2044	c.1866T>C	c.(1864-1866)caT>caC	p.H622H	TAB2_uc011eec.2_Silent_p.H590H|TAB2_uc010kib.2_Silent_p.H622H|TAB2_uc003qmk.4_Non-coding_Transcript|SUMO4_uc003qml.3_5'Flank	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA.	622					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|heart development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|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	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CAGGACCACATTTTAACCCCA	0.303000														22			15		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103230142	103230142	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:103230142C>T	uc022ajr.1	-	27	4206	c.4046G>A	c.(4045-4047)gGa>gAa	p.G1349E	RELN_uc022ajq.1_Missense_Mutation_p.G1349E|RELN_uc010liz.3_Missense_Mutation_p.G1349E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1349					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	p.G1349E(2)		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)		TCTGGAGTTTCCTTCGCATCC	0.478000														109			39		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269998	150269998	+	Silent	SNP	G	A	A	rs77995447		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150269998G>A	uc003whl.3	+	2	922	c.840G>A	c.(838-840)gaG>gaA	p.E280E	GIMAP4_uc011kuu.2_Silent_p.E141E|GIMAP4_uc011kuv.2_Silent_p.E294E	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	280							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAAATGGAGAAGAAACTAG	0.443000														50			22		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136093	55136093	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55136093C>T	uc010rif.2	+	0	734	c.734C>T	c.(733-735)tCc>tTc	p.S245F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATCCTGCTTTCCTATGGGGTC	0.428000														88			36		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47630061	47630061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:47630061C>T	uc001rpq.3	+	1	1740	c.1215C>T	c.(1213-1215)ccC>ccT	p.P405P	FAM113B_uc001rpn.3_Silent_p.P405P|FAM113B_uc021qxi.1_Silent_p.P405P	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	405	Pro-rich.						hydrolase activity	p.R404C(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					GGTATCGTCCCCGTGGCCCCT	0.592000														41			21		0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158142628	158142628	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:158142628G>A	uc002tzg.3	+	2	1978	c.1723G>A	c.(1723-1725)Gga>Aga	p.G575R	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	575	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CAGGCTGGCAGGAGCACAGAA	0.343000														66			20		0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72740483	72740483	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72740483G>A	uc010wrc.2	+	5	608	c.418G>A	c.(418-420)Gac>Aac	p.D140N	RAB37_uc002jlc.2_Missense_Mutation_p.D128N|RAB37_uc002jld.2_Missense_Mutation_p.D128N|RAB37_uc010dfu.3_Missense_Mutation_p.D128N|RAB37_uc010wrb.2_Missense_Mutation_p.D103N|RAB37_uc002jlk.3_Missense_Mutation_p.D135N|RAB37_uc010wre.2_Missense_Mutation_p.D98N	NM_001163989	NP_001157461	Q96AX2	RAB37_HUMAN	Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 4, mRNA.	135					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						TGCCCAGAGGGACGTGGTGAT	0.612000											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			15		0	0	1	0	0
SHB	6461	broad.mit.edu	37	9	37948651	37948651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:37948651C>T	uc004aax.3	-	4	1895	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	443	SH2.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		AGGGAGTAGTCATGCTTGCTG	0.627000														56			6		0	0	1	0	0
MRAP	56246	broad.mit.edu	37	21	33684189	33684189	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:33684189G>A	uc002ypj.3	+	4	588	c.401G>A	c.(400-402)gGg>gAg	p.G134E	MRAP_uc002ypk.3_Intron|URB1_uc002ypn.2_3'UTR|MRAP_uc011ado.2_Missense_Mutation_p.G75E|MRAP_uc002ypl.3_Missense_Mutation_p.G134E	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein (MRAP), transcript variant 1, mRNA.	134					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			endometrium(1)|large_intestine(2)|lung(3)	6						TTGCCCCTCGGGGGTTTCCAG	0.662000														44			21		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675256	100675256	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100675256C>T	uc003uxp.1	+	2	612	c.559C>T	c.(559-561)Cct>Tct	p.P187S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	187	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TATGAGCACACCTCTGACCAC	0.428000														277			57		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229917	21229917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21229917G>A	uc002red.3	-	25	9951	c.9823C>T	c.(9823-9825)Cca>Tca	p.P3275S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3275					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACTGCTTTTGGGAACACATAG	0.478000														49			16		0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	871741	871741	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:871741G>A	uc001ifs.1	-	10	1236	c.1195C>T	c.(1195-1197)Cct>Tct	p.P399S		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	399							RNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAAGTCAGAGGAGACGCCGCA	0.468000														36			7		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94134036	94134036	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:94134036G>A	uc001pet.2	-	0	550	c.378C>T	c.(376-378)ccC>ccT	p.P126P		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	126						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCAAAGTGAAGGGGGTGTTGA	0.577000														25			12		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108117950	108117950	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108117950G>A	uc003dxa.1	-	34	5018	c.4961C>T	c.(4960-4962)tCc>tTc	p.S1654F		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1654						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						CTGGCCCAGGGATTTGGTTGC	0.468000														61			25		0	0	1	0	0
RP11-165H20.1	149620	broad.mit.edu	37	1	111827633	111827633	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111827633G>A	uc009wgb.3	+	7		c.1706G>A								Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA.																		CAACTTTGGAGGTGCCATGGT	0.488000														6			3		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542468	55542468	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55542468G>A	uc003xsd.1	+	3	6174	c.6026G>A	c.(6025-6027)aGa>aAa	p.R2009K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	2009					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAACAAAAAAGAATTAACTTC	0.294000														81			43		0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62855838	62855838	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62855838G>A	uc002jey.2	-	10	5042	c.4426C>T	c.(4426-4428)Cag>Tag	p.Q1476*	LRRC37A3_uc010wqg.1_Nonsense_Mutation_p.Q594*|LRRC37A3_uc002jex.1_Nonsense_Mutation_p.Q453*|LRRC37A3_uc010wqf.1_Nonsense_Mutation_p.Q514*|LRRC37A3_uc010dek.1_Nonsense_Mutation_p.Q482*|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1476						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGGGTTAGCTGAATTTCAAAC	0.512000														328			119		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55139809	55139809	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:55139809C>T	uc003han.4	+	9	1801	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Silent_p.F384F|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	490	Ig-like C2-type 5.				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			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)	GTGTGACTTTCGCCAAAGTGG	0.532000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				105			6		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72943142	72943142	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72943142G>A	uc010wrr.2	+	5	1192	c.1192G>A	c.(1192-1194)Ggg>Agg	p.G398R	OTOP3_uc010wrq.2_Missense_Mutation_p.G380R	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	398						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGCCATACACGGGCTGGAGGA	0.607000														41			18		0	0	1	0	0
KIF12	113220	broad.mit.edu	37	9	116857374	116857374	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116857374G>A	uc004bif.3	-	7	872	c.634C>T	c.(634-636)Cct>Tct	p.P212S	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	345	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						AGAGTCTCAGGAAGGCACTGG	0.647000														47			10		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47925324	47925324	+	Silent	SNP	C	T	T	rs141356808		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:47925324C>T	uc003tny.2	-	17	3199	c.3165G>A	c.(3163-3165)gaG>gaA	p.E1055E		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1055	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCTGACTTCTCTCAGAGCGGC	0.587000														89			32		0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30433000	30433001	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30433000_30433001GG>AA	uc002wwt.1	-	0	420_421	c.345_346CC>TT	c.(343-348)acccgg>acTTgg	p.R116W		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	116					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA 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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CCTGTCTGCCGGGTGAAGCGGC	0.703000														32			10		0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114293996	114293996	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:114293996G>A	uc003vhb.3	+	9	1572	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.E425K|FOXP2_uc003vha.3_Missense_Mutation_p.E308K|FOXP2_uc011kmv.2_Missense_Mutation_p.E399K|FOXP2_uc011kmu.2_Missense_Mutation_p.E417K|FOXP2_uc010ljz.2_Missense_Mutation_p.E308K|FOXP2_uc003vhc.3_Missense_Mutation_p.E425K|FOXP2_uc003vhd.3_Missense_Mutation_p.E400K	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	400	Leucine-zipper.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TAAAGAACGCGAACGTCTTCA	0.393000														111			43		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48167728	48167728	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:48167728C>T	uc002efc.1	-	6	1344	c.998G>A	c.(997-999)aGa>aAa	p.R333K	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.R333K|ABCC12_uc010vgj.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	333	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CAGTAATTTTCTTTCCCTCCT	0.443000														45			19		0	0	1	0	0
IL36G	56300	broad.mit.edu	37	2	113736250	113736250	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113736250G>A	uc002tio.1	+	1	104	c.35G>A	c.(34-36)gGa>gAa	p.G12E	IL36G_uc010fkr.1_Missense_Mutation_p.G12E	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	Homo sapiens interleukin 36, gamma (IL36G), mRNA.	12					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GATGGTGGAGGAAGGGCCGTC	0.527000														52			23		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155287468	155287468	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155287468G>A	uc003inw.2	-	4	588	c.588C>T	c.(586-588)atC>atT	p.I196I	DCHS2_uc003inx.2_Silent_p.I790I	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	196	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAACATTGATGATCTCGGTGC	0.483000														44			16		0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233704569	233704569	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233704569C>T	uc002vtj.4	+	24	3107	c.2840C>T	c.(2839-2841)tCt>tTt	p.S947F	GIGYF2_uc002vti.4_Missense_Mutation_p.S926F|GIGYF2_uc002vtk.4_Missense_Mutation_p.S926F|GIGYF2_uc002vth.4_Missense_Mutation_p.S920F|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Missense_Mutation_p.S757F|GIGYF2_uc002vtq.4_Missense_Mutation_p.S259F	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	926	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTTCCTTCTTCTTCAACGTGG	0.453000														55			12		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167272581	167272581	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:167272581C>T	uc003fev.1	-	5	961	c.657G>A	c.(655-657)tgG>tgA	p.W219*	WDR49_uc003feu.1_Nonsense_Mutation_p.W44*|WDR49_uc011bpd.1_Nonsense_Mutation_p.W272*|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	219										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CATTGAAGTCCCATATCTTTA	0.318000														97			42		0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42807045	42807045	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:42807045G>A	uc011cps.2	-	3	557	c.459C>T	c.(457-459)gtC>gtT	p.V153V	SEPP1_uc011cpt.2_Silent_p.V123V|SEPP1_uc011cpu.2_Silent_p.V123V|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	123					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						AAAGAGTCCAGACATCTGTTT	0.323000														54			21		0	0	1	0	0
KCNJ11	3767	broad.mit.edu	37	11	17408585	17408585	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17408585C>T	uc001mna.3	-	0	1622	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	KCNJ11_uc001mnb.4_Missense_Mutation_p.D265N	NM_000525	NP_001159762	B4DWI4	B4DWI4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA.	265						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		AGGCTGTGGTCCTCATCAAGC	0.622000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			19		0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10465203	10465203	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10465203G>A	uc002moc.4	-	18	3078	c.2700C>T	c.(2698-2700)atC>atT	p.I900I	TYK2_uc010dxe.3_Silent_p.I715I	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	900	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCAGATCTCGGATCTTTTTCA	0.557000														73			34		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39879654	39879654	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:39879654C>T	uc001zkh.3	+	7	1406	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	THBS1_uc010bbi.3_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	409	TSP type-1 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GCGATAGCCTCAACAACCGAT	0.577000														32			8		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140258001	140258001	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:140258001G>A	uc010lnk.3	-	10	2421	c.1901C>T	c.(1900-1902)tCa>tTa	p.S634L	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.S634L|DENND2A_uc003vvw.3_Missense_Mutation_p.S634L|DENND2A_uc003vvx.3_Missense_Mutation_p.S634L	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	634	UDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TAAGACAAATGAGAATGTTTC	0.473000														47			18		0	0	1	0	0
IL11	3589	broad.mit.edu	37	19	55877404	55877404	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55877404C>T	uc002qks.1	-	4	707	c.571G>A	c.(571-573)Gga>Aga	p.G191R	FAM71E2_uc002qkr.2_5'Flank|FAM71E2_uc002qkq.2_5'Flank|IL11_uc010yfx.1_Missense_Mutation_p.G112R	NM_000641	NP_000632	P20809	IL11_HUMAN	Homo sapiens interleukin 11 (IL11), mRNA.	191					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)	AGCAGCAGTCCCCTCACGGCC	0.647000														11			7		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69640520	69640520	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:69640520C>T	uc010kak.3	+	2	1103	c.827C>T	c.(826-828)cCt>cTt	p.P276L	BAI3_uc003pev.4_Missense_Mutation_p.P276L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	276					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAAAGGGTCCCTCAGGAACAA	0.343000														49			8		0	0	1	0	0
RRP8	23378	broad.mit.edu	37	11	6624662	6624662	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6624662G>A	uc001med.3	-	0	219	c.71C>T	c.(70-72)cCt>cTt	p.P24L	ILK_uc001mee.3_5'Flank|ILK_uc001mef.3_5'Flank|ILK_uc010rap.2_5'Flank|ILK_uc010raq.2_5'Flank|ILK_uc001meh.3_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	Homo sapiens ribosomal RNA processing 8, methyltransferase, homolog (yeast) (RRP8), mRNA.	24					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	S-adenosylmethionine-dependent methyltransferase activity|methylated histone residue binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CGCAGGCGGAGGTCGTGAGAT	0.667000														11			4		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6488466	6488466	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6488466G>A	uc001amy.3	+	1	643	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	159					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GCTTCTCGTCGAGCACTACCC	0.642000														51			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9017436	9017436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9017436C>T	uc002mkp.3	-	25	38092	c.37888G>A	c.(37888-37890)Gag>Aag	p.E12630K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12632	SEA 4.				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						TATAGCTGCTCCCTGTCCACT	0.582000														180			17		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955761	18955761	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:18955761G>A	uc001mpg.3	-	0	789	c.571C>T	c.(571-573)Ctc>Ttc	p.L191F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	191					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GACCCACAGAGAACCACACAT	0.507000														52			21		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18770674	18770674	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:18770674C>T	uc003zne.4	+	16	2444	c.2292C>T	c.(2290-2292)ttC>ttT	p.F764F		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	764						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATGGCAGCTTCCTGGAGCTTC	0.527000														25			6		0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39642774	39642774	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39642774G>A	uc002hwt.3	-	6	1258	c.1258C>T	c.(1258-1260)Cct>Tct	p.P420S		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	420	Tail.					intermediate filament	protein binding|structural constituent of epidermis	p.P420R(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GGGACAGAAGGAACTCTAATA	0.597000														9			8		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207651394	207651394	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207651394C>T	uc001hfw.3	+	14	3009	c.2890C>T	c.(2890-2892)Ccc>Tcc	p.P964S	CR2_uc001hfv.3_Missense_Mutation_p.P1023S|CR2_uc009xch.3_Missense_Mutation_p.P902S	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	964	Sushi 15.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATGGAACCCTCCCCTGGCGGT	0.542000														31			5		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26242107	26242107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26242107C>T	uc003abz.1	+	18	3659	c.3409C>T	c.(3409-3411)Cct>Tct	p.P1137S	MYO18B_uc003aca.1_Missense_Mutation_p.P1018S|MYO18B_uc010guy.1_Missense_Mutation_p.P1019S|MYO18B_uc010guz.1_Missense_Mutation_p.P1018S|MYO18B_uc011aka.1_Missense_Mutation_p.P291S|MYO18B_uc011akb.1_Missense_Mutation_p.P650S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1137	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						GGCCAAGCTGCCTCCTGTGTG	0.652000														18			5		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87373167	87373167	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:87373167C>T	uc001kdl.1	-	14	2699	c.2598G>A	c.(2596-2598)aaG>aaA	p.K866K	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Silent_p.K437K	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	866						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGCTGACCTCCTTGGGGGTCT	0.612000										Multiple Myeloma(13;0.14)				23			9		0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24578598	24578598	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:24578598C>T	uc002dmh.3	+	14	2764	c.1724C>T	c.(1723-1725)cCt>cTt	p.P575L	RBBP6_uc010vcb.1_Missense_Mutation_p.P442L|RBBP6_uc002dmi.3_Missense_Mutation_p.P575L|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.P442L	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	575					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		cttcctctccctccgggtgtt	0.577000														179			45		0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74901259	74901259	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74901259C>T	uc002jti.3	+	5	835	c.732C>T	c.(730-732)ttC>ttT	p.F244F	MGAT5B_uc002jth.3_Silent_p.F233F	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	233						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGCAGTTTTCCGAAGCAACC	0.637000														19			9		0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23543378	23543378	+	Missense_Mutation	SNP	T	G	G	rs1821843		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:23543378T>G	uc002nre.3	-	3	2516	c.2403A>C	c.(2401-2403)gaA>gaC	p.E801D	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.E769D	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	801						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGCCACATTCTTCACATTTGT	0.393000														106			27		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106675690	106675690	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106675690G>A	uc001kyi.1	+	3	1022	c.795_splice	c.e3+1	p.K265_splice		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	265						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACAAAAGGAAGGTAAGAGACT	0.453000														63			20		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2614040	2614040	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2614040G>A	uc009zdu.1	+	7	1459	c.1146G>A	c.(1144-1146)tgG>tgA	p.W382*	CACNA1C_uc001qkc.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qjz.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkd.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qke.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkf.2_Nonsense_Mutation_p.W382*|CACNA1C_uc009zdw.1_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkg.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkh.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkl.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkj.2_Intron|CACNA1C_uc001qkk.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Intron|CACNA1C_uc001qko.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkp.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkq.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qku.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkr.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qks.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qkt.2_Nonsense_Mutation_p.W382*|CACNA1C_uc009zdv.1_Nonsense_Mutation_p.W379*|CACNA1C_uc001qkb.2_Nonsense_Mutation_p.W382*|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc009zdy.1_Intron|CACNA1C_uc001qkv.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	382					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACTGGCCCTGGATCTATTTTG	0.498000														29			8		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505206	37505206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:37505206G>A	uc021ppc.1	+	31	2898	c.2799G>A	c.(2797-2799)atG>atA	p.M933I	ANKRD30A_uc001iza.1_Missense_Mutation_p.M933I	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	989						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAGGAAAAATGGAACAAATGA	0.333000														69			23		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34077940	34077940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34077940G>A	uc001zhi.3	+	65	9416	c.9346G>A	c.(9346-9348)Gac>Aac	p.D3116N	RYR3_uc010bar.3_Missense_Mutation_p.D3116N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3116					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAATCAACGACCTGGCCGA	0.552000														84			29		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28710500	28710500	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28710500C>T	uc002kwn.3	-	15	2924	c.2662G>A	c.(2662-2664)Gca>Aca	p.A888T	DSC1_uc002kwm.3_3'UTR|BC042382_uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	888					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CATGTCTTTGCTAATGTCCTA	0.428000														185			38		0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72540995	72540995	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72540995G>A	uc002jky.1	-	1	514	c.153C>T	c.(151-153)acC>acT	p.T51T		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	51	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						ATTTGTTGAGGGTCCTGTGTT	0.542000														71			40		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111474509	111474509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:111474509C>T	uc003iab.4	+	17	2882	c.2540C>T	c.(2539-2541)aCt>aTt	p.T847I		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	847					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTTATTAAAACTCAGGATGTG	0.368000														132			29		0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88173915	88173915	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:88173915G>A	uc003plv.3	+	12	1939	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	SLC35A1_uc003plx.3_Non-coding_Transcript|C6orf165_uc003plw.3_Missense_Mutation_p.E418K|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	606										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGGAAAGAGCGAAATCACCGA	0.458000														31			17		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128677123	128677123	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:128677123G>A	uc010sbu.2	+	6	1113	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	FLI1_uc010sbt.2_Missense_Mutation_p.R64Q|FLI1_uc010sbv.2_Missense_Mutation_p.R224Q|FLI1_uc009zci.3_Missense_Mutation_p.R191Q	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	257					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ACAGAGCAACGGCCCCAGCCA	0.512000			T	EWSR1	Ewing sarcoma									19			7		0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50155850	50155850	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:50155850C>T	uc003cyg.3	+	24	2584	c.2409C>T	c.(2407-2409)gtC>gtT	p.V803V	RBM5_uc011bdk.2_Silent_p.V631V|RBM5_uc003cyh.3_Silent_p.V260V|AK125500_uc003cyi.1_Intron	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	803	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGATGCTGTCCGGAAAGCCA	0.542000														41			6		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003933	122003933	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122003933G>A	uc003eew.4	+	6	3600	c.3162G>A	c.(3160-3162)gtG>gtA	p.V1054V	CASR_uc003eev.4_Silent_p.V1044V	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	1044					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)	GGCCAGAGGTGGAGGACCCTG	0.547000														92			27		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551777	100551777	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100551777C>T	uc003uxl.1	+	0	1028	c.228C>T	c.(226-228)atC>atT	p.I76I	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;									p.T76T(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGAGCACGATCGTGTCAACAT	0.473000														517			42		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215807923	215807923	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:215807923G>A	uc001hku.1	-	69	15562	c.15175C>T	c.(15175-15177)Ctg>Ttg	p.L5059L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	5059					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)		ATCAGGGACAGAAAAATGGCC	0.438000										HNSCC(13;0.011)				113			7		0	0	1	0	0
FAM53A	152877	broad.mit.edu	37	4	1659150	1659150	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:1659150G>A	uc021xkk.1	-	2	319	c.121C>T	c.(121-123)Cct>Tct	p.P41S	FAM53A_uc010ibw.3_Missense_Mutation_p.P41S|FAM53A_uc021xkl.1_Missense_Mutation_p.P41S	NM_001013622	NP_001167541	Q6NSI3	FA53A_HUMAN	Homo sapiens family with sequence similarity 53, member A (FAM53A), transcript variant 1, mRNA.	41						nucleus		p.P41S(2)		breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			AGCTCCAAAGGGAACAGACGA	0.552000														20			4		0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33603471	33603471	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:33603471C>T	uc002nug.1	+	12	2158	c.1844C>T	c.(1843-1845)cCt>cTt	p.P615L	GPATCH1_uc002nuh.1_5'Flank	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	615						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GAGTGGCACCCTGACAAGCTT	0.413000														58			28		0	0	1	0	0
KRR1	11103	broad.mit.edu	37	12	75897712	75897712	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:75897712G>A	uc001sxt.3	-	6	844	c.803C>T	c.(802-804)cCa>cTa	p.P268L	KRR1_uc009zsc.3_Intron	NM_007043	NP_008974	Q13601	KRR1_HUMAN	Homo sapiens KRR1, small subunit (SSU) processome component, homolog (yeast) (KRR1), mRNA.	268	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TGGTGGGAATGGCGTATATTC	0.343000														204			24		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538718	55538718	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55538718G>A	uc003xsd.1	+	3	2424	c.2276G>A	c.(2275-2277)aGa>aAa	p.R759K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	759					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AATTTCCATAGAAATAAATTA	0.299000														29			9		0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52353881	52353881	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:52353881C>T	uc003joy.3	+	9	1266	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Nonsense_Mutation_p.Q299*|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	375					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AGACAACTTTCAGATGGAAAT	0.363000														69			21		0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121942288	121942288	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:121942288C>T	uc003vkd.3	-	3	1265	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	FEZF1_uc003vkc.3_Silent_p.K347K|LOC154860_uc010lko.2_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	397					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TGAAAGGCTTCTTGTCGTTGT	0.562000														135			50		0	0	1	0	0
TUBG1	7283	broad.mit.edu	37	17	40766576	40766576	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:40766576C>T	uc002ian.3	+	9	1457	c.1059C>T	c.(1057-1059)ccC>ccT	p.P353P		NM_001070	NP_001061	P23258	TBG1_HUMAN	Homo sapiens tubulin, gamma 1 (TUBG1), mRNA.	353					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CGTGGGGCCCCGCCAGCATCC	0.652000														40			40		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61747817	61747817	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:61747817C>T	uc002eog.2	-	9	2537	c.1582G>A	c.(1582-1584)Gga>Aga	p.G528R		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	528	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AAATAATGTCCGTTTTTGGGA	0.378000														35			44		0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723505	48723505	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48723505C>T	uc001rrm.3	+	0	743	c.431C>T	c.(430-432)cCc>cTc	p.P144L		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	144	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						ACGCGCGCTCCCTGGAGGACC	0.721000														12			5		0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49657924	49657924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49657924C>T	uc002pmv.3	-	0	758	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	191	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		tcttcTCCTTCATCATCTTCC	0.567000														54			29		0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25718530	25718530	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:25718530C>T	uc001bkf.3	-	3	675	c.589G>A	c.(589-591)Gat>Aat	p.D197N	RHCE_uc001bkg.3_Missense_Mutation_p.D197N|RHCE_uc001bkh.3_Intron|RHCE_uc001bki.3_Intron|RHCE_uc001bkj.3_Missense_Mutation_p.D181N	NM_020485	NP_065231	P18577	RHCE_HUMAN	Homo sapiens Rh blood group, CcEe antigens (RHCE), transcript variant 1, mRNA.	197						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		TGATCATTATCCTCCGTTCCC	0.537000														104			39		0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724711	49724711	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49724711C>T	uc009zlh.3	+	12	2250	c.2083C>T	c.(2083-2085)Cca>Tca	p.P695S	TROAP_uc001rtx.4_Missense_Mutation_p.P695S	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	695					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TTTGAGACCCCCAGCAGGCCA	0.607000														163			44		0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045373	142045373	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142045373G>A	uc003vxp.4	+	0	120	c.11G>A	c.(10-12)aGg>aAg	p.R4K	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ATGGGCTGCAGGCTGCTCTGC	0.567000														163			20		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43250649	43250649	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43250649C>T	uc003ouq.1	+	13	2450	c.2171C>T	c.(2170-2172)cCt>cTt	p.P724L	TTBK1_uc021yzs.1_Missense_Mutation_p.P12L	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	724						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCACTGGCTCCTGTTCAGCCT	0.587000														40			28		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46771680	46771680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:46771680G>A	uc002eei.4	-	2	1060	c.944C>T	c.(943-945)cCt>cTt	p.P315L	MYLK3_uc010vge.2_Intron|MYLK3_uc002eej.1_5'UTR	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	315					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CAGCCCTGGAGGCCCTGGGCA	0.657000														51			30		0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114058095	114058095	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:114058095G>A	uc003ebi.3	-	4	2163	c.1983C>T	c.(1981-1983)tcC>tcT	p.S661S	ZBTB20_uc003ebj.3_Silent_p.S588S|ZBTB20_uc010hqp.3_Silent_p.S588S|ZBTB20_uc003ebk.3_Silent_p.S588S|ZBTB20_uc003ebl.3_Silent_p.S588S|ZBTB20_uc003ebm.3_Silent_p.S588S|ZBTB20_uc003ebn.3_Silent_p.S588S	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGCACTCGTAGGACTTCTCTC	0.577000														201			19		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211523399	211523399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:211523399G>A	uc010fur.3	+	31	3843	c.3761G>A	c.(3760-3762)gGa>gAa	p.G1254E	CPS1_uc002vee.4_Missense_Mutation_p.G1248E|CPS1_uc010fus.3_Missense_Mutation_p.G797E	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1248	ATP-grasp 2.			I -> N (in Ref. 1; BAA14328).	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			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)		CTTGTCAAAGGAAATGATGTC	0.433000														62			7		0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51330994	51330994	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51330994C>T	uc002ptl.3	-	1	152	c.121G>A	c.(121-123)Gag>Aag	p.E41K	KLK15_uc002ptm.3_Missense_Mutation_p.E41K|KLK15_uc002ptn.3_Missense_Mutation_p.E41K|KLK15_uc002pto.3_Missense_Mutation_p.E40K|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.E40K|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	41	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CGTCCACGCTCGTAGAGAGCC	0.607000														31			17		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7565753	7565753	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7565753C>T	uc003mxp.1	+	7	1218	c.939_splice	c.e7+1	p.S313_splice	DSP_uc003mxq.1_Splice_Site_p.S313_splice|DSP_uc021yle.1_Splice_Site_p.S313_splice	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	313	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		AGGCCTTCTCCGTAAGTTCAC	0.517000														45			15		0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215440421	215440421	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:215440421G>A	uc002vet.2	+	3	676	c.546G>A	c.(544-546)acG>acA	p.T182T	VWC2L_uc010zjl.1_Missense_Mutation_p.R139Q	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	182						extracellular region		p.T182M(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						CAGGAACGACGATAATTCCAG	0.463000														146			33		0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8196821	8196821	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:8196821C>T	uc003sro.4	-	7	865	c.729G>A	c.(727-729)gaG>gaA	p.E243E	ICA1_uc010ktr.3_Silent_p.E243E|ICA1_uc003srm.3_Silent_p.E243E|ICA1_uc003srn.4_Silent_p.E169E|ICA1_uc003srq.3_Silent_p.E243E|ICA1_uc003srr.3_Silent_p.E242E|ICA1_uc010kts.3_Intron|ICA1_uc003srs.1_Silent_p.E243E	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	243	AH.				neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GAGAAGTTTTCTCCCAAAAAT	0.418000														65			29		0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153174589	153174589	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:153174589G>A	uc004fjk.2	-	20	2600	c.2542C>T	c.(2542-2544)Ccc>Tcc	p.P848S	ARHGAP4_uc011mzf.2_Missense_Mutation_p.P825S|ARHGAP4_uc004fjl.2_Missense_Mutation_p.P888S|ARHGAP4_uc010nup.2_Non-coding_Transcript	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	848					Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTCCAGAGGGTCCCATGGCC	0.642000														9			19		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33895456	33895456	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:33895456C>T	uc001zhi.3	+	17	2125	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	RYR3_uc010bar.3_Silent_p.A685A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	685	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.W684L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGGCTGGGCCTCTTCTTCAG	0.567000														183			61		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48461033	48461033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48461033G>A	uc003csw.2	-	10	2932	c.2662C>T	c.(2662-2664)Ccg>Tcg	p.P888S	PLXNB1_uc003csu.2_Missense_Mutation_p.P705S|PLXNB1_uc003csx.2_Missense_Mutation_p.P888S|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	888					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	p.L887P(1)|p.P888Q(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGCTGGACGGGAGGATGAGG	0.672000														31			11		0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76828970	76828970	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:76828970C>T	uc003ugb.3	-	0	181	c.141G>A	c.(139-141)ggG>ggA	p.G47G	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	47					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CTTCGCATTTCCCTCTGCTTT	0.493000														121			41		0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55339669	55339669	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55339669G>A	uc010rih.2	+	0	66	c.66G>A	c.(64-66)aaG>aaA	p.K22K		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTTTTTGGAAGAAAATAGTGT	0.398000														139			18		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178562985	178562985	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178562985C>T	uc003mjw.3	-	12	2112	c.2010G>A	c.(2008-2010)atG>atA	p.M670I		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	670	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCATGCGCTTCATGGACACCA	0.647000														106			8		0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24909430	24909430	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:24909430G>A	uc002dmu.3	+	10	1237	c.1006_splice	c.e10+1	p.D336_splice	SLC5A11_uc002dms.3_Splice_Site_p.D272_splice|SLC5A11_uc010vcd.2_Splice_Site_p.D301_splice|SLC5A11_uc002dmt.3_Splice_Site_p.R203_splice|SLC5A11_uc010vce.2_Splice_Site_p.D266_splice|SLC5A11_uc010bxt.3_Splice_Site_p.D272_splice	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	336					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CCTCTTCCCAGGTGAGAACAC	0.493000														65			6		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112786	59112786	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:59112786C>T	uc001xdw.3	+	3	1609	c.1445C>T	c.(1444-1446)tCa>tTa	p.S482L	DACT1_uc010trv.2_Missense_Mutation_p.S201L|DACT1_uc001xdx.3_Missense_Mutation_p.S445L|DACT1_uc010trw.2_Missense_Mutation_p.S201L	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	482					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCTCAGCTCTCAGGGGCCTCT	0.567000														106			42		0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142741799	142741799	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:142741799C>T	uc003evh.1	+	11	1222	c.1123C>T	c.(1123-1125)Ccc>Tcc	p.P375S	U2SURP_uc003evi.1_5'UTR|U2SURP_uc011bnj.1_Missense_Mutation_p.P375S|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.P374S|U2SURP_uc003evl.1_5'Flank	NM_001080415	NP_001073884	O15042	SR140_HUMAN	Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.	375	Pro-rich.				RNA processing	nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ACATACGCTTCCCCCACCTCC	0.433000														24			4		0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35556465	35556465	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35556465G>A	uc002nxq.2	+	11	1175	c.930G>A	c.(928-930)caG>caA	p.Q310Q	HPN_uc002nxr.2_Silent_p.Q310Q|HPN_uc010xsh.1_Silent_p.Q279Q|HPN_uc002nxt.1_Silent_p.Q194Q|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	310	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GGGTACTCCAGGAGGCTCGAG	0.612000														29			17		0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6309836	6309836	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6309836G>A	uc002mel.2	-	3	438	c.360C>T	c.(358-360)ttC>ttT	p.F120F		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	120						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CCAGGCGGATGAACTGGGACC	0.617000														38			15		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19758335	19758335	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19758335G>A	uc002nnh.4	-	20	2824	c.2796C>T	c.(2794-2796)gaC>gaT	p.D932D	ATP13A1_uc002nne.3_Silent_p.D72D|ATP13A1_uc002nnf.4_Silent_p.D300D|ATP13A1_uc002nng.3_Silent_p.D814D	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	932					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGCTCAGGCGGTCCTGCAGGG	0.637000														20			10		0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25043589	25043589	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:25043589C>T	uc001wpq.3	-	3	493	c.456G>A	c.(454-456)atG>atA	p.M152I		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	152	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TTCCCCTCCTCATGCTGACCC	0.617000														106			40		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140735501	140735502	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140735501_140735502CC>TT	uc003ljq.2	+	0	734_735	c.734_735CC>TT	c.(733-735)ccc>cTT	p.P245L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.P245L	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	245	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)			TTCACTCAGCCCGAGTACCACG	0.535000														26			15		0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159571	18159571	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:18159571C>T	uc021qek.1	+	0	822	c.822C>T	c.(820-822)ttC>ttT	p.F274F	MRGPRX3_uc001mnu.3_Silent_p.F274F	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	274						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F274Y(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTTACTTCTTCGTGGGCTCCT	0.512000														105			48		0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48343035	48343035	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:48343035C>T	uc002phq.4	+	3	915	c.711C>T	c.(709-711)ctC>ctT	p.L237L		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	237					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TTAGCCCCCTCTCTGGCCCCT	0.652000														250			23		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103569	53103569	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:53103569G>A	uc003tpz.3	+	0	221	c.205G>A	c.(205-207)Ggg>Agg	p.G69R		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	69								p.W68R(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTTCCAGTGGGGGCGCCCGGT	0.706000														64			6		0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584330	30584330	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30584330C>T	uc002wxe.3	+	2	984	c.810C>T	c.(808-810)ctC>ctT	p.L270L		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	270						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCGCCTCCCTCGTGTCTCTGG	0.711000														16			7		0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109271289	109271289	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:109271289G>A	uc001dvx.3	+	7	1405	c.1405G>A	c.(1405-1407)Gat>Aat	p.D469N	FNDC7_uc010ova.2_Missense_Mutation_p.D236N	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	470	Fibronectin type-III 6.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TGTTTCAAGGGATGCATTCTC	0.418000														53			20		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125872343	125872343	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:125872343G>A	uc003eim.1	-	6	992	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.R167W|ALDH1L1_uc003eio.3_5'UTR|ALDH1L1_uc010hsf.1_Missense_Mutation_p.R294W|ALDH1L1_uc003eip.1_Missense_Mutation_p.R175W|ALDH1L1_uc011bkj.1_Missense_Mutation_p.R93W	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	268					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACCCCTGGCCGATGGGCTCCT	0.542000														71			31		0	0	1	0	0
NRSN1	140767	broad.mit.edu	37	6	24134672	24134672	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:24134672C>T	uc010jpq.1	+	2	354	c.117C>T	c.(115-117)gcC>gcT	p.A39A		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	Homo sapiens neurensin 1 (NRSN1), mRNA.	39					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						ACTGTACAGCCTCAATTTGGG	0.507000														51			28		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299405	58299405	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:58299405G>A	uc001vhq.1	+	3	4349	c.3457G>A	c.(3457-3459)Gac>Aac	p.D1153N	PCDH17_uc010aec.1_Missense_Mutation_p.D1152N|PCDH17_uc001vhr.1_Missense_Mutation_p.D242N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1153					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCGGGGAAACGACCCTGTGGC	0.448000														119			38		0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125315672	125315672	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125315672C>T	uc011lyx.2	+	0	224	c.224C>T	c.(223-225)cCc>cTc	p.P75L		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTCCATACTCCCATGTACTTC	0.507000														203			29		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110489536	110489536	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110489536C>T	uc003yne.3	+	52	9104	c.9000C>T	c.(8998-9000)ttC>ttT	p.F3000F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3000					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TTATTAATTTCCAAGCTTACT	0.423000										HNSCC(38;0.096)				55			16		0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55432786	55432786	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55432786C>T	uc010rik.2	+	0	144	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TAACTATTATCACAAGTCAGA	0.408000														219			23		0	0	1	0	0
MAB21L3	126868	broad.mit.edu	37	1	116670241	116670241	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:116670241C>T	uc001egc.1	+	4	901	c.636C>T	c.(634-636)tcC>tcT	p.S212S		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.	212										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						GCTGGCCTTCCCAAGAGAGAG	0.587000														25			9		0	0	1	0	0
PRR23A	729627	broad.mit.edu	37	3	138724491	138724491	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:138724491G>A	uc011bms.2	-	0	620	c.620C>T	c.(619-621)tCa>tTa	p.S207L		NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN	Homo sapiens proline rich 23A (PRR23A), mRNA.	207	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						GTGTCCCTCTGAACTGGGGTT	0.652000														14			5		0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87329760	87329760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87329760G>A	uc003ujb.3	+	3	724	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	ABCB1_uc003uiz.2_Intron|ABCB1_uc003uja.2_Intron|ABCB1_uc010lei.2_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.E88K|RUNDC3B_uc011khe.2_Missense_Mutation_p.E88K|RUNDC3B_uc003ujc.3_Missense_Mutation_p.E88K|RUNDC3B_uc003ujd.3_Missense_Mutation_p.E10K	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	105	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					GTTTGGTTATGAAAGTCCTCG	0.343000														35			12		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533801	31533801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31533801G>A	uc003aka.3	-	3	1090	c.961C>T	c.(961-963)Ccc>Tcc	p.P321S		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	321					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	p.P321H(1)		large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GCTTTGCTGGGGCGCTTGGAC	0.652000														162			69		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169697034	169697034	+	Silent	SNP	C	T	T	rs147467969	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169697034C>T	uc001ggm.4	-	8	1471	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	438	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TCACCAAACCCTTCGGGGGCT	0.488000														92			28		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6527210	6527210	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:6527210C>T	uc001iji.1	-	8	1105	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	PRKCQ_uc001ijj.2_Missense_Mutation_p.E308K|PRKCQ_uc009xim.2_Missense_Mutation_p.E308K|PRKCQ_uc009xin.2_Missense_Mutation_p.E272K|PRKCQ_uc010qax.2_Missense_Mutation_p.E183K	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	308					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						AAGATCTGTTCAGTATCTCTT	0.507000														145			36		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566641	5566641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5566641G>A	uc010qzh.2	-	0	113	c.113C>T	c.(112-114)cCc>cTc	p.P38L	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATACAGAAGGGAATTCCAAT	0.458000														58			29		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107706335	107706335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107706335G>A	uc010ljo.1	-	20	2792	c.2708C>T	c.(2707-2709)tCt>tTt	p.S903F	LAMB4_uc003vey.2_Missense_Mutation_p.S903F|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	903	Laminin EGF-like 8.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGTCCTGAAGAAGGATTTCC	0.433000														118			8		0	0	1	0	0
ZNF34	80778	broad.mit.edu	37	8	145999601	145999601	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145999601G>A	uc003zdy.4	-	5	835	c.733C>T	c.(733-735)Cct>Tct	p.P245S	ZNF34_uc010mgb.3_Missense_Mutation_p.P142S|ZNF34_uc003zdx.4_Missense_Mutation_p.P224S	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	Homo sapiens zinc finger protein 34 (ZNF34), mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		TTCCCAGTAGGAATTTTCTGA	0.403000														25			12		0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49378993	49378993	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49378993C>T	uc002pky.4	+	2	2057	c.1788C>T	c.(1786-1788)atC>atT	p.I596I		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	596					apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	p.R595H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CACGCCGCATCACCCAGGCCC	0.726000														187			79		0	0	1	0	0
MYOG	4656	broad.mit.edu	37	1	203054621	203054621	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203054621C>T	uc001gzd.3	-	0	757	c.469G>A	c.(469-471)Ggg>Agg	p.G157R		NM_002479	NP_002470	P15173	MYOG_HUMAN	Homo sapiens myogenin (myogenic factor 4) (MYOG), mRNA.	157					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CCACTTACCCCTGGCTGGGGC	0.697000														18			3		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106848899	106848899	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106848899G>A	uc021ser.1	-	470		c.14163C>T								Parts of antibodies, mostly variable regions.																		GGTACTAAAGGTGAATCCAGA	0.507000														29			11		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38802355	38802355	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38802355G>A	uc021yzh.1	+	32	4412	c.4303_splice	c.e32-1	p.E1435_splice	DNAH8_uc003ooe.2_Splice_Site_p.E1218_splice	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCCTTACAGGAAGGACCTAT	0.323000														105			39		0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180348073	180348073	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:180348073G>A	uc002unn.4	-	5	1200	c.596C>T	c.(595-597)cCt>cTt	p.P199L	ZNF385B_uc002unj.3_Missense_Mutation_p.P97L|ZNF385B_uc002unl.3_Missense_Mutation_p.P96L|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Missense_Mutation_p.P123L	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	199						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTCCTTGGAAGGAACCATTTT	0.458000														77			5		0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27529141	27529141	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27529141G>A	uc002rjo.3	+	6	1230	c.927G>A	c.(925-927)atG>atA	p.M309I	TRIM54_uc002rjn.3_Missense_Mutation_p.M351I	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	309	COS.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGAGAGCATGGAGCAATTCA	0.652000														51			17		0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198724	15198724	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15198724C>T	uc010xoe.2	+	0	848	c.848C>T	c.(847-849)cCc>cTc	p.P283L		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I282F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						GTGTTCATCCCCATGCTCAAC	0.562000														73			14		0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68571514	68571514	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:68571514G>A	uc001oog.4	-	4	679	c.509C>T	c.(508-510)tCg>tTg	p.S170L	CPT1A_uc001oof.4_Missense_Mutation_p.S170L|5S_rRNA_uc021qmn.1_5'Flank	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	170					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GCGAGGCAGCGATGTCTGGAA	0.498000														56			25		0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91433170	91433170	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:91433170G>A	uc002bpv.3	+	7	1146	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	FES_uc010uqj.2_Missense_Mutation_p.E285K|FES_uc010uqk.2_Missense_Mutation_p.E325K|FES_uc002bpx.3_Missense_Mutation_p.E343K|FES_uc002bpy.3_Missense_Mutation_p.E285K|FES_uc010bny.3_Missense_Mutation_p.E285K	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	343					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GAATGAAGAGGAGAACACCCA	0.647000														98			25		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114279872	114279872	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:114279872C>T	uc003ibe.4	+	37	10198	c.10098C>T	c.(10096-10098)acC>acT	p.T3366T	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.T3381T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3333					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTAGACACCTCTGTCCAGA	0.458000														128			13		0	0	1	0	0
MSGN1	343930	broad.mit.edu	37	2	17997965	17997965	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:17997965C>T	uc010yjt.2	+	0	180	c.180C>T	c.(178-180)ccC>ccT	p.P60P		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	Homo sapiens mesogenin 1 (MSGN1), mRNA.	60					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTCTTCTCCCTGTCCAGCTG	0.657000														90			8		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13071780	13071780	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:13071780G>A	uc002wod.1	+	4	946	c.657G>A	c.(655-657)ctG>ctA	p.L219L		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	219					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CTAAGTTCCTGAATGTGGAAG	0.428000														137			15		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671604	39671604	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:39671604C>T	uc021wjc.1	+	0	421	c.421C>T	c.(421-423)Cat>Tat	p.H141Y	KCNJ15_uc002ywv.3_Missense_Mutation_p.H141Y|KCNJ15_uc002yww.3_Missense_Mutation_p.H141Y|KCNJ15_uc002ywx.3_Missense_Mutation_p.H141Y	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	141					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GGAATGTCCTCATGCCATCTT	0.502000														86			30		0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15881966	15881966	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15881966G>A	uc010xor.1	-	3	431	c.411C>T	c.(409-411)ctC>ctT	p.L137L	CYP4F24P_uc002nbo.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		CGTCATGGGAGAGGTAATACA	0.557000														72			30		0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891435	6891435	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6891435C>T	uc001meu.1	+	0	450	c.450C>T	c.(448-450)ctC>ctT	p.L150L		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W149L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCACATGGCTCTTCAGTTTTC	0.532000														153			62		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105965741	105965741	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105965741C>T	uc001kxw.3	-	6	1059	c.943G>A	c.(943-945)Ggc>Agc	p.G315S	WDR96_uc001kxx.4_Missense_Mutation_p.G316S|WDR96_uc001kxy.1_Missense_Mutation_p.G316S|WDR96_uc001kxz.3_Missense_Mutation_p.G316S	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	315								p.G315G(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCAGCACGCCCTCCTTCTGA	0.338000														47			12		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57358377	57358377	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:57358377G>A	uc003xsz.2	-	0	217	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L	AX747062_uc003xtb.1_Non-coding_Transcript|PENK_uc003xta.3_Silent_p.L46L|PENK_uc010lym.3_Silent_p.L46L	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	46					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			ACACTCACCAGGAAGTTGATG	0.687000														91			8		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630995	74630995	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74630995G>A	uc002axt.2	-	7	1506	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	CYP11A1_uc002axs.2_Missense_Mutation_p.R293W|CYP11A1_uc010bjm.1_Missense_Mutation_p.R293W|CYP11A1_uc010bjn.1_Non-coding_Transcript	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	451					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	p.R451Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CCCAAGTTCCGGAAGTAGGTG	0.557000														102			85		0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45839446	45839446	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:45839446A>C	uc010zxy.1	-	22	3768	c.3686T>G	c.(3685-3687)cTc>cGc	p.L1229R	ZMYND8_uc010ghq.1_Missense_Mutation_p.S811A|ZMYND8_uc010ghr.1_Missense_Mutation_p.L1104R|ZMYND8_uc002xst.1_Missense_Mutation_p.L1056R|ZMYND8_uc002xsu.1_Missense_Mutation_p.L1075R|ZMYND8_uc002xsv.1_Missense_Mutation_p.L1102R|ZMYND8_uc002xsw.1_Missense_Mutation_p.L908R|ZMYND8_uc002xsx.1_Missense_Mutation_p.L880R|ZMYND8_uc002xsy.1_Missense_Mutation_p.L1131R|ZMYND8_uc002xsz.1_Missense_Mutation_p.L1093R|ZMYND8_uc002xta.1_Missense_Mutation_p.L1174R|ZMYND8_uc002xtb.1_Missense_Mutation_p.L1176R|ZMYND8_uc002xss.2_Missense_Mutation_p.L1174R|ZMYND8_uc010zxz.1_Missense_Mutation_p.L1042R|ZMYND8_uc002xtc.1_Missense_Mutation_p.L1148R|ZMYND8_uc002xtd.1_Missense_Mutation_p.L1123R|ZMYND8_uc002xte.1_Missense_Mutation_p.L1156R|ZMYND8_uc010zya.1_Missense_Mutation_p.L1202R|ZMYND8_uc002xtf.1_Missense_Mutation_p.L1222R|ZMYND8_uc002xsr.1_Missense_Mutation_p.L273R	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	1174							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTTCGGGAGGAGGCTCTTCGT	0.537000														108			21		0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112219820	112219820	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:112219820G>A	uc001tst.3	+	1	309	c.213G>A	c.(211-213)ggG>ggA	p.G71G	ALDH2_uc010syi.2_Silent_p.G71G	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	71					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	TAGCTGAAGGGGACAAGGTGA	0.448000			T	HMGA2	leiomyoma									47			15		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155630087	155630087	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155630087G>A	uc010pgi.2	-	9	2220	c.2028C>T	c.(2026-2028)gcC>gcT	p.A676A	GON4L_uc021paz.1_Silent_p.A518A|GON4L_uc010pgg.2_Silent_p.A423A|GON4L_uc010pgh.2_Silent_p.A527A|GON4L_uc009wqt.3_Silent_p.A507A|GON4L_uc001flh.3_Silent_p.A656A|GON4L_uc001fll.3_Silent_p.A538A|GON4L_uc001flk.3_Silent_p.A527A|GON4L_uc001flm.3_Silent_p.A527A|GON4L_uc009wqu.3_Silent_p.A371A|GON4L_uc009wqv.3_Silent_p.A255A|GON4L_uc009wqw.3_Silent_p.A507A|GON4L_uc001flj.3_Silent_p.A518A|GON4L_uc001fli.3_Silent_p.A538A|GON4L_uc001flo.3_Silent_p.A472A|GON4L_uc001fln.3_Silent_p.A584A|GON4L_uc010pgj.2_3'UTR|GON4L_uc001flp.3_Silent_p.A538A	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	1127					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TACAGCGAAAGGCCCTGGCTC	0.537000														114			55		0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283116	69283116	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:69283116G>A	uc004dxu.1	+	0	776	c.742G>A	c.(742-744)Gag>Aag	p.E248K		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	248	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CATCGGGGAGGAGTACGTCAA	0.657000														16			13		0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153417432	153417432	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:153417432G>A	uc002tye.3	+	5	846	c.479G>A	c.(478-480)aGc>aAc	p.S160N		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	160	GBD/FH3.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding	p.S160S(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						ACTGTGGAGAGCTCGGTGGAC	0.473000														14			6		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31997527	31997527	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31997527C>T	uc011dpd.2	+	28	3912	c.3861C>T	c.(3859-3861)gcC>gcT	p.A1287A	C4B_uc011dpe.2_Silent_p.A1287A	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1287					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										AGGCTGCGGCCTGGCTCACCC	0.667000														96			24		0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98449122	98449122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:98449122C>T	uc003upo.3	-	5	1117	c.928G>A	c.(928-930)Gac>Aac	p.D310N	TMEM130_uc011kiq.2_Missense_Mutation_p.D291N|TMEM130_uc011kir.2_Missense_Mutation_p.D310N|TMEM130_uc003upn.3_Missense_Mutation_p.D208N	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	310						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGCAGTAGTCCCCAGGGTCC	0.592000														42			24		0	0	1	0	0
DKK1	22943	broad.mit.edu	37	10	54074332	54074332	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:54074332C>T	uc001jjr.3	+	0	292	c.138C>T	c.(136-138)ccC>ccT	p.P46P	LOC100506939_uc009xox.2_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	Homo sapiens dickkopf 1 homolog (Xenopus laevis) (DKK1), mRNA.	46					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						AGAACCTGCCCCCACCGCTGG	0.647000											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		95			31		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294370	25294370	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:25294370G>A	uc003abg.2	+	19	2776	c.2619G>A	c.(2617-2619)agG>agA	p.R873R	SGSM1_uc010guu.1_Silent_p.R818R|SGSM1_uc003abh.2_Silent_p.R812R|SGSM1_uc003abj.2_Silent_p.R757R|SGSM1_uc003abi.1_Silent_p.R793R	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	873	Rab-GAP TBC.		R -> K (in dbSNP:rs2073201).			Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AGGGCTGGAGGAGCAGCGAGA	0.592000														73			31		0	0	1	0	0
EME1	146956	broad.mit.edu	37	17	48457688	48457688	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48457688A>C	uc002iqs.2	+	7	1444	c.1362A>C	c.(1360-1362)gaA>gaC	p.E454D	EME1_uc010dbp.2_Missense_Mutation_p.E467D|EME1_uc010dbq.2_Non-coding_Transcript|DQ599569_uc010wmk.1_5'Flank	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	Homo sapiens essential meiotic endonuclease 1 homolog 1 (S. pombe) (EME1), transcript variant 2, mRNA.	454					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TCCGAGATGAAACTACCTTCT	0.547000								Direct reversal of damage;Homologous recombination						26			3		0	0	1	0	0
LEMD1	93273	broad.mit.edu	37	1	205350899	205350899	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205350899C>T	uc001hcj.2	-	5	568	c.433G>A	c.(433-435)Gag>Aag	p.E145K	LEMD1_uc001hcl.2_Missense_Mutation_p.E104K|LEMD1_uc001hci.2_Silent_p.S97S|LEMD1_uc001hcm.2_Non-coding_Transcript|LEMD1_uc001hcn.2_Silent_p.S56S|LEMD1_uc001hck.2_Non-coding_Transcript|LOC284576_uc001hch.1_Intron	NM_001199050	NP_001185979	Q68G75	LEMD1_HUMAN	Homo sapiens LEM domain containing 1 (LEMD1), transcript variant 1, mRNA.	145						integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			CTCCAGCTCTCGATAGTCTGG	0.478000														162			69		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	112448	112448	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000209.1:112448G>A	uc002qtt.2	+	7	912	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	KIR2DL2_uc021vdc.1_5'Flank|KIR2DL2_uc021vdd.1_5'Flank|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Missense_Mutation_p.E295K|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Missense_Mutation_p.E295K|KIR2DL2_uc002qum.3_5'Flank	NM_012313	NP_036445	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 (KIR2DS3), mRNA.	294					regulation of immune response	integral to membrane|plasma membrane	receptor activity										GGATTCTGATGAACAGGACCA	0.512000														154			71		0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15885110	15885110	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15885110G>A	uc010xor.1	-	0	65	c.45C>T	c.(43-45)ttC>ttT	p.F15F	CYP4F24P_uc002nbo.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		AGGGCTTCAGGAACCTGATGG	0.577000														83			44		0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39336578	39336578	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39336578G>A	uc021uuh.1	-	2	550	c.539C>T	c.(538-540)tCc>tTc	p.S180F	HNRNPL_uc021uui.1_Missense_Mutation_p.S47F|HNRNPL_uc010xun.2_5'Flank	NM_001533	NP_001005335	P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA.	180					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCCAGGGCGGGAGATCTTCTG	0.542000														109			44		0	0	1	0	0
TPM2	7169	broad.mit.edu	37	9	35685445	35685445	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35685445G>A	uc003zxq.3	-	3	717	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	TPM2_uc003zxs.3_Missense_Mutation_p.R160C|TPM2_uc010mkz.3_Missense_Mutation_p.R160C|TPM2_uc011lpa.2_Missense_Mutation_p.R160C	NM_213674	NP_998839	P07951	TPM2_HUMAN	Homo sapiens tropomyosin 2 (beta) (TPM2), transcript variant 2, mRNA.	160					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	p.R160S(3)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCATATTTGCGGTCTGAATCC	0.542000														120			28		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31750138	31750138	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:31750138G>A	uc001ivs.4	+	1	294	c.231G>A	c.(229-231)ggG>ggA	p.G77G	ZEB1_uc001ivr.4_5'UTR|ZEB1_uc010qef.2_5'UTR|ZEB1_uc009xlh.1_Non-coding_Transcript|ZEB1_uc009xli.1_Non-coding_Transcript|ZEB1_uc009xlj.1_Silent_p.G77G|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivu.4_Silent_p.G77G|ZEB1_uc010qeh.2_Intron|ZEB1_uc001ivv.4_Silent_p.G77G|ZEB1_uc001ivt.4_5'UTR|ZEB1_uc009xll.2_Non-coding_Transcript|ZEB1_uc009xlm.1_Non-coding_Transcript|ZEB1_uc009xln.1_Non-coding_Transcript|ZEB1_uc009xlo.2_Silent_p.G60G|ZEB1_uc009xlp.3_Silent_p.G60G	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	77					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGAGAAGGGAATGCTAAGA	0.388000														39			14		0	0	1	0	0
S1PR3	1903	broad.mit.edu	37	9	91616823	91616823	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:91616823G>A	uc022bjm.1	+	0	708	c.708G>A	c.(706-708)gaG>gaA	p.E236E	S1PR3_uc004aqe.3_Silent_p.E236E	NM_005226	NP_005217	Q99500	S1PR3_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA.	236					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						ACAACTCGGAGCGGTCCATGG	0.577000														51			14		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167060669	167060669	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:167060669G>A	uc010fpl.3	-	25	4878	c.4537C>T	c.(4537-4539)Ctt>Ttt	p.L1513F	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1524						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AGACAGATAAGAACCATGATA	0.328000														48			24		0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60643116	60643116	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60643116G>A	uc001nqd.3	+	11	1924	c.1904G>A	c.(1903-1905)aGc>aAc	p.S635N	ZP1_uc001nqe.3_Missense_Mutation_p.S342N	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	635					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTCTGGGAAAGCAACAGACAG	0.493000														34			14		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46797278	46797278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46797278C>T	uc011dwh.1	+	8	1206	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	MEP1A_uc010jzh.1_Missense_Mutation_p.R372C|MEP1A_uc011dwg.1_Missense_Mutation_p.R94C|MEP1A_uc011dwi.1_Missense_Mutation_p.R272C	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	372	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGGCAATGTTCGCAAGTTGGT	0.488000														136			36		0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65129479	65129479	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:65129479C>T	uc001dbo.1	+	13	2005	c.1900C>T	c.(1900-1902)Ctc>Ttc	p.L634F	CACHD1_uc001dbp.1_Missense_Mutation_p.L389F|CACHD1_uc001dbq.1_Missense_Mutation_p.L389F|CACHD1_uc010opa.1_5'Flank	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	685					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CACCGCCTATCTCAGCGACAA	0.587000														163			34		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488815	20488815	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:20488815C>T	uc001ytf.1	+	1		c.298C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		ATGTGGAACCCCCACCTGCTT	0.428000														132			17		0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91647573	91647573	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:91647573G>A	uc001xyw.2	+	7	1126	c.774G>A	c.(772-774)atG>atA	p.M258I	C14orf159_uc010atv.1_Non-coding_Transcript|C14orf159_uc001xyy.2_Missense_Mutation_p.M258I|C14orf159_uc001xyz.2_Missense_Mutation_p.M129I|C14orf159_uc001xzb.2_Missense_Mutation_p.M253I|C14orf159_uc001xyx.2_Missense_Mutation_p.M241I|C14orf159_uc001xzc.2_Missense_Mutation_p.M253I|C14orf159_uc001xza.2_Missense_Mutation_p.M258I|C14orf159_uc001xyv.2_Missense_Mutation_p.M258I|C14orf159_uc001xze.2_Missense_Mutation_p.M253I	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	253						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GCACAGTTATGACTGACCTGA	0.542000														35			20		0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54031199	54031199	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:54031199C>T	uc001jjm.3	+	10	1446	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	PRKG1_uc001jjo.3_Silent_p.I421I|PRKG1_uc009xow.2_Silent_p.I124I|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	406	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)		AGGAGCACATCCGCTCAGAGA	0.463000														45			13		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981915	7981915	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7981915G>A	uc001mfv.1	-	1	1261	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	415	NACHT.						ATP binding	p.S415F(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCTGCTAGGGAGCACAGACT	0.547000														64			24		0	0	1	0	0
RNF157	114804	broad.mit.edu	37	17	74163761	74163761	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74163761G>A	uc002jqz.3	-	3	483	c.414C>T	c.(412-414)gcC>gcT	p.A138A	RNF157_uc002jra.3_Silent_p.A138A	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	138							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			ACTCTTCCGTGGCCTGGTAAT	0.498000														108			27		0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53930377	53930378	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:53930377_53930378CC>TT	uc001cvq.1	+	2	873_874	c.818_819CC>TT	c.(817-819)ccc>cTT	p.P273L		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	273	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						ccactgccgccCCTTCCACCGC	0.678000														46			27		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21556024	21556024	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:21556024G>A	uc009yid.3	+	16	1987	c.1834G>A	c.(1834-1836)Gat>Aat	p.D612N	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Missense_Mutation_p.D584N|NELL1_uc001mqf.3_Intron|NELL1_uc010rdo.2_Missense_Mutation_p.D527N|NELL1_uc001mqh.3_Silent_p.T193T	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	584	EGF-like 6; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.D584N(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TTTCCATGACGATGGGACCTA	0.532000														76			6		0	0	1	0	0
AX747417	0	broad.mit.edu	37	3	95373839	95373839	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:95373839G>A	uc003dro.1	-	4		c.2023C>T								Homo sapiens cDNA FLJ34909 fis, clone NT2RI2009301, moderately similar to BIFUNCTIONAL METHYLENETETRAHYDROFOLATE DEHYDROGENASE/CYCLOHYDROLASE, MITOCHONDRIAL PRECURSOR.																		AAGCTCTTTAGACGTCAGCAC	0.448000														11			3		0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64275924	64275924	+	Missense_Mutation	SNP	C	T	T	rs145891572	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:64275924C>T	uc002amr.3	-	2	153	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	DAPK2_uc010uim.2_Non-coding_Transcript|DAPK2_uc010bgu.1_Missense_Mutation_p.R31Q	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	41	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		GCTCTTCTCCCGGCACTTCTT	0.597000														59			8		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124397119	124397119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124397119C>T	uc003ehg.3	+	49	7403	c.7276C>T	c.(7276-7278)Cgt>Tgt	p.R2426C	KALRN_uc003ehk.3_Missense_Mutation_p.R729C	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2425					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CACAGGGCCTCGTAAACCCAA	0.498000														100			27		0	0	1	0	0
HS1BP3	64342	broad.mit.edu	37	2	20838369	20838369	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:20838369G>A	uc002rdw.1	-	3	491	c.450C>T	c.(448-450)tcC>tcT	p.S150S	HS1BP3_uc002rdx.3_Silent_p.S150S	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA.	150					cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGGACAGAGGAATCTCTGC	0.567000														43			16		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55139748	55139748	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:55139748C>T	uc003han.4	+	9	1740	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.S364L|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	470	Ig-like C2-type 5.				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.V469A(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)	AACAATGTCTCAAACATCATC	0.502000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				87			23		0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29301113	29301113	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:29301113G>A	uc004dby.2	+	2	649	c.141G>A	c.(139-141)gaG>gaA	p.E47E		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	47	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGGTGGGAGAGCCTGTTCGAA	0.393000														19			27		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121485642	121485642	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121485642G>A	uc001pxx.3	+	40	5611	c.5482G>A	c.(5482-5484)Gat>Aat	p.D1828N	SORL1_uc010rzp.1_Missense_Mutation_p.D674N|SORL1_uc010rzq.1_Missense_Mutation_p.D443N	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1828	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGACTTGGGGGATAGCCCTCT	0.512000														141			12		0	0	1	0	0
CA9	768	broad.mit.edu	37	9	35675537	35675537	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35675537G>A	uc003zxo.4	+	1	448	c.406G>A	c.(406-408)Gat>Aat	p.D136N	C9orf100_uc003zxl.3_Non-coding_Transcript	NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	136	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTATACAGGGGATGACCAGAG	0.547000														47			10		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67109377	67109377	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:67109377G>A	uc002jhw.1	-	14	2202	c.2027C>T	c.(2026-2028)gCt>gTt	p.A676V		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	676	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CAGGATGTCAGCCTCATCCAT	0.483000														55			15		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14769773	14769773	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:14769773G>A	uc003zlm.3	-	27	5969	c.5153C>T	c.(5152-5154)aCc>aTc	p.T1718I	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.T254I	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1718					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAATTCCACGGTATCTGAATT	0.353000														12			15		0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155264286	155264286	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155264286C>T	uc001fkb.4	-	5	991	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	PKLR_uc001fka.4_Missense_Mutation_p.E287K	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	318					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TTCACGCCTTCGTGGTTCTCA	0.582000														62			22		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240286601	240286601	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240286601G>A	uc010pye.2	+	1	1963	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	FMN2_uc010pyd.2_Missense_Mutation_p.E580K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	580					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTGCTTCAGGGAACCGTGTAA	0.493000														77			30		0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18156698	18156698	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:18156698G>A	uc002gsr.1	-	8	981	c.930C>T	c.(928-930)ccC>ccT	p.P310P	FLII_uc002gsq.1_Silent_p.P182P|FLII_uc010vxn.1_Silent_p.P279P|FLII_uc010vxo.1_Silent_p.P256P|FLII_uc002gss.1_Silent_p.P310P	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	310	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CAATGCCTGAGGGCAGCCCGT	0.582000														48			7		0	0	1	0	0
MYL10	93408	broad.mit.edu	37	7	101265448	101265448	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:101265448C>T	uc003uyr.3	-	4	560	c.382G>A	c.(382-384)Gcc>Acc	p.A128T		NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN	Homo sapiens myosin, light chain 10, regulatory (MYL10), mRNA.	128						mitochondrion	calcium ion binding	p.E127*(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TTCACCATGGCCTCCAGTTCC	0.602000														54			10		0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120880	46120880	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:46120880G>A	uc001coq.3	-	4	1533	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	Homo sapiens GC-rich promoter binding protein 1-like 1 (GPBP1L1), mRNA.	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					GTTCGTAGGGGACCATTGTTA	0.463000														85			46		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64589690	64589690	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:64589690C>T	uc003dmg.3	-	24	3687	c.3655G>A	c.(3655-3657)Gag>Aag	p.E1219K	ADAMTS9_uc011bfo.2_Missense_Mutation_p.E1191K|ADAMTS9_uc003dmh.1_Missense_Mutation_p.E1048K|ADAMTS9_uc011bfp.1_Missense_Mutation_p.E130K	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1219	TSP type-1 7.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.D1218N(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGGCACTCTCGTCAGCCACA	0.542000														70			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069622	9069622	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9069622G>A	uc002mkp.3	-	2	18028	c.17824C>T	c.(17824-17826)Ctt>Ttt	p.L5942F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5944	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						GCGGAATAAAGAGATGAATGT	0.502000														48			15		0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1046704	1046704	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:1046704C>T	uc001ift.3	+	6	813	c.742C>T	c.(742-744)Cgt>Tgt	p.R248C	GTPBP4_uc010qac.1_Missense_Mutation_p.R39C|GTPBP4_uc010qad.2_Missense_Mutation_p.R132C|GTPBP4_uc010qae.2_Missense_Mutation_p.R201C	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	248					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GGCCCACCTCCGTGCTGCGGT	0.557000														71			38		0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276978	71276978	+	Silent	SNP	C	T	T	rs77786965		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:71276978C>T	uc001oqt.1	+	0	370	c.345C>T	c.(343-345)ggC>ggT	p.G115G		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	115	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGGGCTGTGGCTCCTGTGGGG	0.667000														143			58		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51757907	51757907	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51757907G>A	uc001ryk.2	-	4	1272	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Silent_p.I349I	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	349	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTCCTTACTTGATGGGGTAGG	0.552000														55			32		0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120079232	120079232	+	Missense_Mutation	SNP	C	T	T	rs138061447		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:120079232C>T	uc003icp.4	+	3	515	c.302C>T	c.(301-303)tCg>tTg	p.S101L		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	101							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GAAGGTGGTTCGCAGCAAGCC	0.463000														118			53		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147926752	147926752	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:147926752C>T	uc003weu.2	+	19	3778	c.3262C>T	c.(3262-3264)Cga>Tga	p.R1088*		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1088	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R1088*(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTTACAGATTCGATACAACCT	0.443000										HNSCC(39;0.1)				49			13		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201079390	201079390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201079390C>T	uc001gvv.3	-	1	387	c.160G>A	c.(160-162)Gag>Aag	p.E54K		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	54					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATGATCGTCTCGAAGGGCCTG	0.577000														53			23		0	0	1	0	0
RBM48	84060	broad.mit.edu	37	7	92164170	92164170	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92164170C>T	uc003uma.3	+	3	944	c.903C>T	c.(901-903)aaC>aaT	p.N301N	RBM48_uc003ulz.3_Silent_p.N301N			Q5RL73	CG064_HUMAN	Homo sapiens RNA binding motif protein 48 (RBM48), mRNA.	301							nucleotide binding										TTCAAACAAACCCAACTGGTA	0.413000														40			18		0	0	1	0	0
SHB	6461	broad.mit.edu	37	9	37974775	37974775	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:37974775G>A	uc004aax.3	-	2	1466	c.898C>T	c.(898-900)Cct>Tct	p.P300S		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	300	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GGTTCGTAAGGGGTGTCATAT	0.537000														54			28		0	0	1	0	0
IL22RA2	116379	broad.mit.edu	37	6	137466765	137466765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:137466765G>A	uc003qhl.3	-	6	1089	c.788C>T	c.(787-789)cCa>cTa	p.P263L	IL22RA2_uc003qhn.3_3'UTR|IL22RA2_uc003qhm.3_Missense_Mutation_p.P231L	NM_052962	NP_443194	Q969J5	I22R2_HUMAN	Homo sapiens interleukin 22 receptor, alpha 2 (IL22RA2), transcript variant 1, mRNA.	263	Fibronectin type-III 3.				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		CACAAGTCATGGAATTTCCAC	0.403000														24			21		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30963185	30963185	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:30963185G>A	uc003tbv.2	+	3	861	c.751G>A	c.(751-753)Gag>Aag	p.E251K	FAM188B_uc011kac.1_Missense_Mutation_p.E311K|FAM188B_uc010kwf.1_Missense_Mutation_p.E168K|FAM188B_uc010kwh.1_Missense_Mutation_p.E200K|FAM188B_uc022abh.1_Missense_Mutation_p.E136K	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	135										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGGCCAGGTGGAGGAGTATGA	0.627000														23			8		0	0	1	0	0
CCDC121	79635	broad.mit.edu	37	2	27850325	27850325	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27850325C>T	uc002rld.3	-	1	943	c.828G>A	c.(826-828)aaG>aaA	p.K276K	ZNF512_uc010yly.1_Intron|CCDC121_uc002rle.3_Silent_p.K114K|CCDC121_uc021vfe.1_Silent_p.K114K|GPN1_uc010ezf.3_5'Flank|GPN1_uc010yma.2_5'Flank|GPN1_uc010ymb.2_5'Flank|GPN1_uc010ymd.2_5'Flank|GPN1_uc010ymc.2_5'Flank|GPN1_uc010ezg.1_5'Flank	NM_001142683	NP_078860	Q6ZUS5	CC121_HUMAN	Homo sapiens coiled-coil domain containing 121 (CCDC121), transcript variant 2, mRNA.	114										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					CCTGCTTTTCCTTTAATATAG	0.433000														230			90		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52420785	52420785	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52420785C>T	uc011bef.2	+	55	9180	c.8919C>T	c.(8917-8919)acC>acT	p.T2973T	DNAH1_uc003ddv.3_5'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2973	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCCAGGCACCAAGGTGGATG	0.572000														6			4		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187205268	187205268	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187205268C>T	uc003iza.1	+	10	1491	c.1158C>T	c.(1156-1158)ccC>ccT	p.P386P		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	386					blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AAATCAAGCCCAGGATCGTTG	0.517000														79			29		0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4391133	4391133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:4391133G>A	uc002fxt.3	+	11	1527	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N	SPNS3_uc002fxu.3_Missense_Mutation_p.D368N|AX748345_uc002fxw.1_5'Flank	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	495					lipid transport|transmembrane transport	integral to membrane		p.N494N(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GGACAGCAACGACCTGGAGAG	0.622000														68			59		0	0	1	0	0
DNAJC1	64215	broad.mit.edu	37	10	22048148	22048148	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:22048148G>A	uc001irc.3	-	10	1834	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F		NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA.	516	SANT 2.				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GCGGTCAGAGGATCCCCTTGG	0.542000														185			49		0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410142	159410142	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159410142C>T	uc010piv.2	+	0	631	c.594C>T	c.(592-594)tcC>tcT	p.S198S	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	198					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TGAAGCTCTCCTGCATTGACA	0.438000														146			68		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79385646	79385646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:79385646C>T	uc003hlb.2	+	48	7378	c.6938C>T	c.(6937-6939)cCc>cTc	p.P2313L		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2312					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GATTCGCTGCCCGTCGTACAG	0.532000														79			12		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70933493	70933493	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:70933493C>T	uc021vjc.1	-	2	313	c.48G>A	c.(46-48)caG>caA	p.Q16Q	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.Q16Q|ADD2_uc002sgz.3_Silent_p.Q16Q|ADD2_uc010fdt.2_Silent_p.Q16Q|ADD2_uc002shc.2_Silent_p.Q16Q|ADD2_uc010fdu.2_Silent_p.Q32Q	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	16					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AAGGCTGCCCCTGCGGGGGCG	0.642000														76			30		0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77270191	77270191	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:77270191G>A	uc001xsv.3	-	5	1558	c.1445C>T	c.(1444-1446)cCc>cTc	p.P482L		NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	482										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CAGGGAGCTGGGCCACAGTGG	0.527000														147			60		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75248565	75248565	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75248565C>T	uc001xqj.4	+	3	1943	c.1819C>T	c.(1819-1821)Cca>Tca	p.P607S	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGTTCTTCCCCCACCATCTCT	0.597000														129			71		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47500803	47500803	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:47500803G>A	uc002leb.2	-	9	1527	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	MYO5B_uc021ukb.1_Silent_p.F412F	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	413	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAATCCAGCCGAACAACTGGG	0.592000														66			39		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520248	131520248	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:131520248C>T	uc021voy.1	+	0	603	c.603C>T	c.(601-603)ttC>ttT	p.F201F	FAM123C_uc002trw.2_Silent_p.F201F|FAM123C_uc010fmv.2_Silent_p.F201F|FAM123C_uc010fms.1_Silent_p.F201F|FAM123C_uc010fmt.1_Silent_p.F201F|FAM123C_uc010fmu.1_Silent_p.F201F	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	201										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GCAAAGCCTTCCTCCCCCCGG	0.687000														47			20		0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86008723	86008723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:86008723G>A	uc001kdd.1	+	2	332	c.294G>A	c.(292-294)caG>caA	p.Q98Q	RGR_uc001kdb.1_Missense_Mutation_p.G82R|RGR_uc001kdc.1_Silent_p.Q94Q|RGR_uc001kde.1_Silent_p.Q94Q	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	94					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						ACGGCTTCCAGGGCTTTGTGA	0.632000														56			10		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43325361	43325361	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43325361G>A	uc003oux.3	-	2	769	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	231					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GATCGATGCAGGAAAGTTTCT	0.478000														92			28		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2426252	2426252	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:2426252C>T	uc010qxl.2	-	23	3446	c.3437G>A	c.(3436-3438)gGa>gAa	p.G1146E	TRPM5_uc001lwm.4_Missense_Mutation_p.G1138E|TRPM5_uc009ydn.3_Missense_Mutation_p.G1140E	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	1138						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAGCTGGCTTCCCTCGCCACA	0.662000														26			17		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178416045	178416045	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178416045G>A	uc003mjr.3	-	5	1424	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	GRM6_uc010jla.1_Intron|GRM6_uc003mjs.1_Silent_p.L35L	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	415					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCATGCTGTGGAGGGCGTGGG	0.632000														22			12		0	0	1	0	0
ESAM	90952	broad.mit.edu	37	11	124626255	124626255	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124626255G>A	uc001qav.4	-	3	628	c.455C>T	c.(454-456)cCt>cTt	p.P152L	ESAM_uc010sao.2_Intron|ESAM_uc001qau.4_Missense_Mutation_p.P79L|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Intron	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	152					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	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;0.022)		AGGAGCTGGAGGAACTGGGCA	0.597000														12			3		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141535653	141535653	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:141535653C>T	uc011bnd.2	+	3	1507	c.1423C>T	c.(1423-1425)Cct>Tct	p.P475S		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	475	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.P475H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TGTGCCAGACCCTTCAGTGGT	0.428000														219			49		0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6752834	6752834	+	Silent	SNP	G	A	A	rs148058585		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6752834G>A	uc001qpu.1	-	5	996	c.948C>T	c.(946-948)ctC>ctT	p.L316L	ACRBP_uc010sfg.1_Silent_p.L283L	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	316				L -> F (in Ref. 1; BAB39388).		acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GCAGCTGCAGGAGGCTGCAAG	0.587000														79			23		0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88119601	88119601	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:88119601G>A	uc003plv.3	+	1	167	c.44G>A	c.(43-45)cGa>cAa	p.R15Q	C6orf165_uc003plu.2_Missense_Mutation_p.R15Q|C6orf165_uc003plw.3_5'UTR|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	15										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGTATTATACGAGAAATAGGA	0.318000														89			8		0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203188883	203188883	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203188883G>A	uc001gzn.2	-	7	920	c.824C>T	c.(823-825)tCc>tTc	p.S275F	CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xal.1_Missense_Mutation_p.S66F|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.S266F	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	275					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTCTGATGAGGAGGCCAGTGT	0.602000														60			34		0	0	1	0	0
PPARD	5467	broad.mit.edu	37	6	35387967	35387967	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:35387967C>T	uc003okn.3	+	4	599	c.194C>T	c.(193-195)gCc>gTc	p.A65V	PPARD_uc003okl.3_Missense_Mutation_p.A65V|PPARD_uc011dtb.2_Missense_Mutation_p.A26V|PPARD_uc011dtc.2_Intron|PPARD_uc003okm.3_Missense_Mutation_p.A65V|PPARD_uc010jvv.1_Intron	NM_001171818	NP_006229	Q03181	PPARD_HUMAN	Homo sapiens peroxisome proliferator-activated receptor delta (PPARD), transcript variant 3, mRNA.	65					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TGTGACGGGGCCTCATGCGGC	0.637000														43			19		0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385766	33385766	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:33385766G>A	uc003zst.3	-	6	796	c.624C>T	c.(622-624)atC>atT	p.I208I	AQP7_uc003zsu.1_Silent_p.I151I|AQP7_uc010mjs.2_Silent_p.I116I|AQP7_uc010mjt.2_Silent_p.I116I|AQP7_uc011lny.1_Silent_p.I207I|AQP7_uc003zss.3_Silent_p.I116I|AQP7_uc011lnz.1_Silent_p.I116I|AQP7_uc011loa.1_Missense_Mutation_p.P77S|AQP7_uc011lnx.1_Silent_p.I208I	NM_001170	NP_001161	O14520	AQP7_HUMAN	Homo sapiens aquaporin 7 (AQP7), mRNA.	208					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TGACCACGAGGATGCCTATCA	0.602000														79			30		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20851952	20851952	+	Silent	SNP	G	A	A	rs139781911	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20851952G>A	uc001vxe.3	-	24	3700	c.3660C>T	c.(3658-3660)acC>acT	p.T1220T	TEP1_uc010ahk.3_Silent_p.T570T|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.T1112T|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1220	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CACGCAGATAGGTACAGAGGC	0.592000														13			6		0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987912	50987912	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50987912C>T	uc003bmi.3	+	0	1451	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	Homo sapiens kelch domain containing 7B (KLHDC7B), mRNA.	439										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGCACCTTCCCTGTGGCCC	0.652000														85			28		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121379469	121379469	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:121379469G>A	uc003yox.3	+	45	5402	c.5137G>A	c.(5137-5139)Ggc>Agc	p.G1713S	COL14A1_uc003yoz.3_Missense_Mutation_p.G678S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1713	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGGTCCAAGAGGCCCCCCTGG	0.373000														45			15		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34181935	34181935	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34181935G>A	uc001bxm.1	-	19	3345	c.3168C>T	c.(3166-3168)ttC>ttT	p.F1056F	CSMD2_uc001bxn.1_Silent_p.F1016F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1016	Sushi 6.					integral to membrane|plasma membrane	protein binding	p.G1056G(1)|p.G1056S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AATCAGAGATGAAGCGGACCT	0.542000														67			9		0	0	1	0	0
TTC38	55020	broad.mit.edu	37	22	46685431	46685431	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:46685431C>T	uc003bhi.3	+	11	1291	c.1215C>T	c.(1213-1215)atC>atT	p.I405I	TTC38_uc011aqx.2_Silent_p.I347I	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	Homo sapiens tetratricopeptide repeat domain 38 (TTC38), mRNA.	405							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						GCTACCGGATCGTCCAGCTCG	0.721000														25			8		0	0	1	0	0
VPS45	11311	broad.mit.edu	37	1	150065671	150065671	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:150065671C>T	uc001etp.3	+	12	1993	c.1420C>T	c.(1420-1422)Ctg>Ttg	p.L474L	VPS45_uc010pbp.1_Non-coding_Transcript|VPS45_uc010pbq.2_Silent_p.L438L|VPS45_uc010pbs.2_Silent_p.L369L|VPS45_uc001etq.3_Silent_p.L294L|VPS45_uc009wlm.1_Silent_p.L450L	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA.	474					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	Golgi membrane|endosome membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACATGAAACCCTGGATCATCT	0.373000														89			43		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3265439	3265439	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:3265439A>G	uc022aqr.1	-	13	2443	c.2053T>C	c.(2053-2055)Ttc>Ctc	p.F685L	CSMD1_uc011kwj.2_Missense_Mutation_p.F78L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	686	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGATGTTGAACCCTCTGCCA	0.448000														11			4		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278255	36278255	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36278255C>T	uc002obs.2	+	20	2449	c.2305C>T	c.(2305-2307)Ccc>Tcc	p.P769S	ARHGAP33_uc002obt.2_Missense_Mutation_p.P794S|ARHGAP33_uc002obv.1_Missense_Mutation_p.P518S	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	822					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TTCCCAATCCCCCTTCCACCG	0.701000														53			10		0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51696896	51696896	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51696896C>T	uc001ryg.3	-	2	244	c.192G>A	c.(190-192)ctG>ctA	p.L64L	BIN2_uc009zlz.3_Silent_p.L64L|BIN2_uc001ryh.3_5'UTR|BIN2_uc010sng.2_Silent_p.L38L	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	64	BAR.					cytoplasm	protein binding	p.D63N(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GGAAGTTCTTCAGGTCCTTGT	0.438000														104			22		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115220557	115220557	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:115220557C>T	uc001efe.2	-	8	1345	c.1297G>A	c.(1297-1299)Ggg>Agg	p.G433R	AMPD1_uc001eff.2_Missense_Mutation_p.G429R	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	400					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)	Adenosine monophosphate(DB00131)	AAATATTCCCCATTAATGTAA	0.433000														148			19		0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8808164	8808164	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:8808164G>A	uc002glt.3	-	4	409	c.342C>T	c.(340-342)acC>acT	p.T114T	PIK3R5_uc010vuz.2_Silent_p.T114T|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	114					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GAACAGGCCAGGTCAGGAACC	0.577000														52			13		0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43519322	43519322	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43519322G>A	uc002ovm.1	-	3	1017	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.R182C|PSG11_uc002ovo.1_Missense_Mutation_p.R182C	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	304	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GCTGAGTTACGAGCAGAGCAA	0.458000														120			119		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934998	28934998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28934998C>T	uc002kwp.3	+	14	3051	c.2839C>T	c.(2839-2841)Cac>Tac	p.H947Y	DSG1_uc010xbp.2_Missense_Mutation_p.H306Y	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	947					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	p.H947N(2)		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)			AGCCAATGCCCACAATGTCAT	0.507000														198			79		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57347212	57347212	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57347212G>A	uc001cyo.2	+	4	691	c.559G>A	c.(559-561)Gag>Aag	p.E187K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	187	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGAATGGAGGGAGCTTCGATA	0.453000														122			40		0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50391759	50391759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50391759C>T	uc002pqo.3	+	16	2124	c.1825C>T	c.(1825-1827)Ccg>Tcg	p.P609S	TBC1D17_uc010ybg.2_Missense_Mutation_p.P576S|TBC1D17_uc002pqp.3_Missense_Mutation_p.P260S|TBC1D17_uc002pqr.3_Missense_Mutation_p.P260S|IL4I1_uc002pqt.1_3'UTR|IL4I1_uc021uxy.1_3'UTR|IL4I1_uc002pqu.2_3'UTR|IL4I1_uc010eno.2_3'UTR|IL4I1_uc002pqv.2_3'UTR	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	609	Pro-rich.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CACCGCCTCCCCGCTGCCTCT	0.746000														12			3		0	0	1	0	0
MYL4	4635	broad.mit.edu	37	17	45299116	45299116	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:45299116G>A	uc002ilg.3	+	4	510	c.382G>A	c.(382-384)Gag>Aag	p.E128K	MYL4_uc002ilh.3_Missense_Mutation_p.E128K	NM_001002841	NP_002467	P12829	MYL4_HUMAN	Homo sapiens myosin, light chain 4, alkali; atrial, embryonic (MYL4), transcript variant 1, mRNA.	128					cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CCGCAACAAGGAGCAGGGCAC	0.542000														57			42		0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791056	110791056	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:110791056C>T	uc003hzx.4	+	2	1209	c.1016C>T	c.(1015-1017)tCa>tTa	p.S339L	LRIT3_uc003hzw.4_Missense_Mutation_p.S201L	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	339	Ser-rich.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AGCGCATCATCATATCTTTGG	0.468000														133			56		0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31232685	31232685	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:31232685C>T	uc001utc.2	+	8	2903	c.2471C>T	c.(2470-2472)cCc>cTc	p.P824L	USPL1_uc001utd.2_Missense_Mutation_p.P495L|USPL1_uc001ute.1_Missense_Mutation_p.P495L	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	824					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AAGCCTCCTCCCATCAGTAAG	0.483000														79			30		0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510576	56510576	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56510576G>A	uc010rjo.2	-	0	712	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L237F(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGGATAGCCAGGAGGATGTTG	0.478000														97			10		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300777	103300777	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103300777C>T	uc002tca.3	+	4	1549	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	469						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTGTCATATTCTTTACTGTCT	0.403000														172			62		0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129752087	129752087	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:129752087G>A	uc001qfg.3	-	8	1281	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	NFRKB_uc001qfi.3_Missense_Mutation_p.P362L|NFRKB_uc001qfh.3_Missense_Mutation_p.P385L|NFRKB_uc010sbw.1_Missense_Mutation_p.P374L	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	362					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTCTTCAAGGGGCCTAATGAG	0.438000														32			12		0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60737753	60737753	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:60737753G>A	uc001vht.3	-	0	367	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	DIAPH3_uc001vhw.1_Missense_Mutation_p.P50S|DIAPH3_uc010aed.1_Missense_Mutation_p.P50S|DIAPH3_uc010aee.1_Missense_Mutation_p.P50S	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	50					actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GGCTCCTCGGGGCCACTGGGC	0.711000														52			18		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872865	55872865	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55872865C>T	uc010riy.2	+	0	347	c.347C>T	c.(346-348)tCc>tTc	p.S116F		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TACCTTCTCTCCTCAATGGCC	0.463000										HNSCC(53;0.14)				299			103		0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224437993	224437993	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:224437993G>A	uc001hok.3	-	18	2272	c.2210C>T	c.(2209-2211)cCg>cTg	p.P737L	NVL_uc001hol.3_Missense_Mutation_p.P631L|NVL_uc010pvd.2_Missense_Mutation_p.P646L|NVL_uc010pve.2_Missense_Mutation_p.P548L|NVL_uc010pvf.2_Non-coding_Transcript	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	737						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CAGGCGGCCCGGGCGCAGGAT	0.393000														74			26		0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580498	580498	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:580498G>A	uc002kko.1	+	0	130	c.90G>A	c.(88-90)aaG>aaA	p.K30K		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	30	EF-hand 1.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	p.Q29H(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						AGGATCAGAAGCAAGAAGTTC	0.592000														29			16		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231115757	231115757	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:231115757C>T	uc002vql.3	+	9	1153	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Silent_p.S346S|SP140_uc002vqn.3_Intron|SP140_uc002vqm.3_Silent_p.S320S|SP140_uc010fxl.3_Silent_p.S346S	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	346					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCTCTAGCTCCCTAGCAAGAT	0.478000														43			19		0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15132462	15132462	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15132462G>A	uc002nae.2	+	4	1175	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	359					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CTGATGAGGGGAACTATCCTC	0.582000														65			7		0	0	1	0	0
FBXO22	26263	broad.mit.edu	37	15	76205550	76205550	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:76205550C>T	uc002bbk.3	+	2	391	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	FBXO22_uc002bbj.2_Missense_Mutation_p.R96C|FBXO22_uc002bbl.3_5'UTR	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	96					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	p.R96H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCAGAATGTTCGCATCTTACC	0.383000														110			19		0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44514663	44514663	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44514663C>T	uc002oyb.1	+	4	723	c.472C>T	c.(472-474)Cct>Tct	p.P158S		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	158	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CTTTGATCCTCCTCAGCAGTT	0.438000														133			59		0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62066599	62066599	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:62066599G>A	uc002sbm.4	-	2	1642	c.1540C>T	c.(1540-1542)Ccc>Tcc	p.P514S	FAM161A_uc002sbn.4_Missense_Mutation_p.P324S|FAM161A_uc010ypo.2_Missense_Mutation_p.P514S|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Missense_Mutation_p.P405S	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	514					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTGGGCACGGGAGGGTTGCAG	0.478000														77			28		0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156269026	156269026	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:156269026C>T	uc003ios.3	-	13	2117	c.1853G>A	c.(1852-1854)cGa>cAa	p.R618Q	MAP9_uc011cin.2_Missense_Mutation_p.R593Q	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	618					cell division|mitosis	cytoplasm|microtubule|spindle		p.R618Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CTTCTGTTTTCGTTCAATTCT	0.338000														10			3		0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53097069	53097069	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53097069C>T	uc001saw.3	-	0	179	c.150G>A	c.(148-150)ggG>ggA	p.G50G	KRT77_uc009zmi.3_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	50	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TTCCATGGATCCCATATCCAC	0.547000														42			19		0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69969797	69969797	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:69969797C>T	uc002exu.1	+	18	1973	c.1884C>T	c.(1882-1884)ctC>ctT	p.L628L	WWP2_uc002exv.1_Silent_p.L628L|WWP2_uc010vlm.1_Silent_p.L512L|WWP2_uc010vln.1_Silent_p.L246L|WWP2_uc002exw.1_Silent_p.L189L	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	628	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	p.L628F(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTTCACCCTCCCTTTCTACA	0.532000														164			55		0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4544408	4544408	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4544408G>A	uc010dud.2	-	16	2134	c.1872C>T	c.(1870-1872)ctC>ctT	p.L624L	SEMA6B_uc010xih.1_Intron	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	624					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGCTCACGGAGGCCCACGA	0.731000														20			9		0	0	1	0	0
PHF13	148479	broad.mit.edu	37	1	6681627	6681627	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6681627G>A	uc001aob.4	+	3	1204	c.833G>A	c.(832-834)cGg>cAg	p.R278Q		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	Homo sapiens PHD finger protein 13 (PHF13), mRNA.	278					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		CAAAAGTGCCGGGACTCCAAG	0.577000														61			19		0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36716041	36716041	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:36716041G>A	uc003omr.1	-	14	1042	c.975C>T	c.(973-975)acC>acT	p.T325T	CPNE5_uc003omp.1_Silent_p.T33T|CPNE5_uc010jwn.1_5'UTR|CPNE5_uc003omq.1_5'UTR	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	325										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGTTGATCTGGGTCCTAGAAG	0.582000														117			14		0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48047099	48047099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:48047099C>T	uc004diz.1	-	7	711	c.658G>A	c.(658-660)Gag>Aag	p.E220K	SSX5_uc004dja.1_Missense_Mutation_p.E179K	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TCGCTGATCTCTTCATAAATC	0.483000														122			119		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174964	51174964	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:51174964G>A	uc021tif.1	-	1	1200	c.878C>T	c.(877-879)cCa>cTa	p.P293L	SALL1_uc021tid.1_Missense_Mutation_p.P293L|SALL1_uc021tie.1_Missense_Mutation_p.P390L|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	390					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGGTAGAAGTGGATTAGACGC	0.522000														70			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179591878	179591878	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179591878G>A	uc021vsy.1	-	65	16707	c.16482C>T	c.(16480-16482)ttC>ttT	p.F5494F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F2155F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6421	Ig-like 35.						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)			CCTCACAAATGAAATCTCCAC	0.418000														99			27		0	0	1	0	0
KCNIP2	30819	broad.mit.edu	37	10	103603287	103603287	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:103603287G>A	uc001kuc.3	-	0	391	c.39C>T	c.(37-39)tcC>tcT	p.S13S	KCNIP2_uc009xwv.3_Silent_p.S13S|KCNIP2_uc001kub.3_Silent_p.S13S|KCNIP2_uc001kue.3_Silent_p.S13S|KCNIP2_uc001kud.3_Silent_p.S13S|KCNIP2_uc001kuf.3_Silent_p.S13S|KCNIP2_uc001kua.3_5'UTR|KCNIP2_uc009xwu.3_Silent_p.S13S|KCNIP2_uc010qqi.2_Silent_p.S13S	NM_014591	NP_055406	Q9NS61	KCIP2_HUMAN	Homo sapiens Kv channel interacting protein 2 (KCNIP2), transcript variant 1, mRNA.	13					clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|ER retention sequence binding|calcium ion binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		CCAGGTCTCGGGAATCGGACA	0.726000														12			5		0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6635912	6635912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6635912G>A	uc001mel.1	-	12	1618	c.1557C>T	c.(1555-1557)acC>acT	p.T519T	TAF10_uc001mej.2_5'Flank|TPP1_uc001mek.1_Silent_p.T276T	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	519					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GGCAGCCACGGGTTACCTAGG	0.532000														93			27		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105026744	105026744	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:105026744C>T	uc003yls.3	+	16	2696	c.2455C>T	c.(2455-2457)Cgt>Tgt	p.R819C	RIMS2_uc003ylp.3_Missense_Mutation_p.R1079C|RIMS2_uc003ylw.2_Missense_Mutation_p.R893C|RIMS2_uc003ylq.3_Missense_Mutation_p.R893C|RIMS2_uc003ylr.3_Missense_Mutation_p.R918C	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1141	C2 1.				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)			GTCTCATCCTCGTACTGGGTC	0.418000										HNSCC(12;0.0054)				49			12		0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35255046	35255046	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:35255046G>A	uc001wsk.3	-	13	2336	c.1768C>T	c.(1768-1770)Cgt>Tgt	p.R590C	BAZ1A_uc001wsl.3_Missense_Mutation_p.R558C	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	590					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTGCTCAAACGAAGCTCCATA	0.418000														93			48		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31593296	31593296	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:31593296G>A	uc002rnv.1	-	17	1984	c.1905C>T	c.(1903-1905)ttC>ttT	p.F635F		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	635					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CAGCGGAAATGAAACAAACAA	0.438000														50			10		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541971	133541971	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:133541971G>A	uc002ttp.3	-	13	2787	c.2413C>T	c.(2413-2415)Ccc>Tcc	p.P805S	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	805							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTGCCCCTGGGAGGTATTTTT	0.463000														282			21		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35802490	35802491	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:35802490_35802491GG>AA	uc010zvu.2	-	3	377_378	c.286_287CC>TT	c.(286-288)ccc>TTc	p.P96F	C20orf132_uc002xgm.2_Missense_Mutation_p.P96F|C20orf132_uc002xgn.2_Missense_Mutation_p.P96F	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	16										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				ATAGGCACAGGGGATCACTACT	0.396000														27			8		0	0	1	0	0
MYLIP	29116	broad.mit.edu	37	6	16141939	16141939	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:16141939C>T	uc003nbq.3	+	2	599	c.362C>T	c.(361-363)gCc>gTc	p.A121V	MYLIP_uc003nbr.3_5'UTR	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	121	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GAACTCAGTGCCCTCCTGGCC	0.537000														69			34		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370490	240370490	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240370490G>A	uc010pye.2	+	5	2615	c.2390G>A	c.(2389-2391)cGa>cAa	p.R797Q	FMN2_uc010pyd.2_Missense_Mutation_p.R793Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	793	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCTCCAAGGCGAATATCAGTC	0.577000														78			20		0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55758950	55758950	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55758950C>T	uc010spk.2	+	0	56	c.56C>T	c.(55-57)cCa>cTa	p.P19L		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACAAGTGACCCACAGTGGCAG	0.363000														183			56		0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115422330	115422330	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:115422330C>T	uc011lwx.1	+	4	2391	c.2216C>T	c.(2215-2217)tCc>tTc	p.S739F	KIAA1958_uc004bgf.1_Missense_Mutation_p.S711F	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	711										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGGCTTGGCTCCCACAGCTGC	0.612000														74			27		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934539	30934539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:30934539C>T	uc002nsu.1	+	1	208	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S	ZNF536_uc010edd.1_Missense_Mutation_p.P24S	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTGAGTGGCCCCGTCCTCAA	0.622000														135			45		0	0	1	0	0
STAP2	55620	broad.mit.edu	37	19	4333791	4333791	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4333791C>T	uc002mab.3	-	2	388	c.197G>A	c.(196-198)gGa>gAa	p.G66E	STAP2_uc002mac.3_Missense_Mutation_p.G66E|STAP2_uc021unb.1_Missense_Mutation_p.G66E|STAP2_uc021unc.1_Missense_Mutation_p.G66E|STAP2_uc002mad.3_5'UTR	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	Homo sapiens signal transducing adaptor family member 2 (STAP2), transcript variant 2, mRNA.	66	PH.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAAATGCTCCCAAGTTGAG	0.567000														51			23		0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50653837	50653837	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:50653837C>T	uc011mnw.2	+	0	103	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	18					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TCGTGCTTTTCATGGAACACA	0.493000														14			5		0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8122528	8122528	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:8122528C>T	uc001mga.3	+	10	1520	c.1371C>T	c.(1369-1371)atC>atT	p.I457I	TUB_uc010rbk.2_Silent_p.I463I|TUB_uc001mfy.3_Silent_p.I512I	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	457					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		p.R457H(1)		breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		ACTTCCAGATCATCCATGGCA	0.522000														76			18		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94548945	94548945	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94548945C>T	uc001dqh.3	-	6	925	c.821G>A	c.(820-822)gGa>gAa	p.G274E	ABCA4_uc010otn.1_Missense_Mutation_p.G274E	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	274					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.W273C(1)		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)		TAATATTCCTCCCCAAGATCT	0.353000														339			19		0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73836847	73836847	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73836847G>A	uc002jpp.3	-	7	1059	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	UNC13D_uc010wsk.1_Missense_Mutation_p.R227C|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_Missense_Mutation_p.R24C	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	227					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACGAACCTGCGAAGCCCATGC	0.597000									Familial Hemophagocytic Lymphohistiocytosis					134			40		0	0	1	0	0
SLC35E4	339665	broad.mit.edu	37	22	31032727	31032727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31032727G>A	uc003ais.1	+	0	935	c.290G>A	c.(289-291)gGg>gAg	p.G97E	SLC35E4_uc003ait.3_Missense_Mutation_p.G85E	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA.	97						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						TGCCACCGGGGGGCACGGCGC	0.667000														20			8		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149493792	149493792	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149493792C>T	uc010lpk.3	+	44	6779	c.6779C>T	c.(6778-6780)tCg>tTg	p.S2260L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2263	LDL-receptor class A 8.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGGATGGCTCGGATGAGGAG	0.657000														17			3		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234891	21234891	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21234891C>T	uc002red.3	-	25	4977	c.4849G>A	c.(4849-4851)Gga>Aga	p.G1617R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1617					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTAGTGATCCAGAAAGCAGG	0.423000														49			20		0	0	1	0	0
TBC1D3F	84218	broad.mit.edu	37	17	36375119	36375119	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:36375119G>A	uc010wdn.1	-	0		c.59C>T			LOC440434_uc002hpx.2_Non-coding_Transcript			A6NER0	TBC3F_HUMAN	Homo sapiens aminopeptidase puromycin sensitive pseudogene (LOC440434), non-coding RNA.							intracellular	Rab GTPase activator activity			liver(1)|pancreas(1)	2						GAGTACTAGGGAAAGACAAGG	0.348000														42			6		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41496622	41496622	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:41496622G>A	uc003gvu.4	+	2	221	c.167_splice	c.e2+1	p.E56_splice	LIMCH1_uc003gvt.1_Intron|LIMCH1_uc003gwe.4_Splice_Site_p.E56_splice|LIMCH1_uc003gvv.4_Splice_Site_p.E56_splice|LIMCH1_uc003gvw.4_Splice_Site_p.E56_splice|LIMCH1_uc003gvx.4_Splice_Site_p.E56_splice|LIMCH1_uc003gvy.4_Splice_Site	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	56	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCTCCTCTGCGAGTAAGTATA	0.328000														45			18		0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427263	97427263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:97427263C>T	uc002swx.3	+	0	625	c.527C>T	c.(526-528)cCt>cTt	p.P176L		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	176					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GTGGAGGAGCCTGGGAGGTTC	0.602000														257			110		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233335967	233335967	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233335967G>A	uc001hvl.2	-	13	3142	c.2907C>T	c.(2905-2907)ttC>ttT	p.F969F	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.	969						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)				TGATTTGCGGGAAGAGCCCAA	0.398000														10			9		0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236949460	236949460	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:236949460C>T	uc002vvs.3	+	14	2464	c.1866C>T	c.(1864-1866)tcC>tcT	p.S622S	AGAP1_uc002vvt.3_Silent_p.S569S	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	622	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GCGGGAACTCCCACTGTGTGG	0.627000														56			24		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351410	89351410	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89351410G>A	uc002fmx.1	-	8	2001	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	ANKRD11_uc002fmy.1_Silent_p.L514L|ANKRD11_uc002fnc.1_Silent_p.L514L|ANKRD11_uc002fnb.1_Silent_p.L471L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	514	Ser-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GAGCTGAACAGGGAGGGGTCC	0.652000														47			19		0	0	1	0	0
EIF3F	8665	broad.mit.edu	37	11	8014500	8014500	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:8014500C>T	uc001mfw.3	+	3	1037	c.582C>T	c.(580-582)gcC>gcT	p.A194A	EIF3F_uc010rbj.2_Silent_p.A45A	NM_003754	NP_003745	O00303	EIF3F_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit F (EIF3F), mRNA.	194	MPN.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCGAGAGGCCCCCAACCCCA	0.562000														109			26		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21695445	21695445	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21695445C>T	uc001rfb.3	-	12	1885	c.1630G>A	c.(1630-1632)Gat>Aat	p.D544N		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	544					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCAGTAGGATCAGCCACGTGC	0.507000														38			10		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18770762	18770762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:18770762C>T	uc003zne.4	+	16	2532	c.2380C>T	c.(2380-2382)Ctc>Ttc	p.L794F		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	794	TSP type-1 7.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGAGTGGCTTCTCTCAGACTG	0.483000														17			14		0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790452	4790452	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4790452G>A	uc010qyl.2	-	0	696	c.696C>T	c.(694-696)tcC>tcT	p.S232S		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	232						integral to membrane	olfactory receptor activity	p.A231A(1)		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)		ATTCTTCAGGGGAGGCAATTC	0.458000														108			54		0	0	1	0	0
C19orf45	374877	broad.mit.edu	37	19	7570318	7570318	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7570318G>A	uc002mgm.2	+	4	1032	c.891G>A	c.(889-891)gaG>gaA	p.E297E	C19orf45_uc010xjo.1_5'Flank	NM_198534	NP_940936	Q8NA69	CS045_HUMAN	Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA.	297										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						ATGCCAGGGAGCCAGGTGAGA	0.642000														73			20		0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82319705	82319705	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:82319705C>T	uc004ald.3	+	8	1445	c.596C>T	c.(595-597)tCa>tTa	p.S199L	TLE4_uc004alc.3_Missense_Mutation_p.S206L|TLE4_uc010mpr.3_Missense_Mutation_p.S85L|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Missense_Mutation_p.S174L|TLE4_uc010mps.3_Missense_Mutation_p.S199L|TLE4_uc004alf.3_Missense_Mutation_p.S145L	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						CAGAGCTCTTCAGTATCCCCA	0.403000														166			72		0	0	1	0	0
FSTL1	11167	broad.mit.edu	37	3	120122201	120122201	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:120122201C>T	uc003eds.3	-	8	757	c.582_splice	c.e8-1	p.R194_splice	FSTL1_uc011bjh.2_Splice_Site_p.R159_splice	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	Homo sapiens follistatin-like 1 (FSTL1), mRNA.	194	EF-hand 2.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		CACAGAGTCCCCTGAAACAAA	0.468000														67			5		0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52565264	52565264	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52565264T>G	uc001rzw.3	-	6	1433	c.1382A>C	c.(1381-1383)aAg>aCg	p.K461T	KRT80_uc001rzy.3_3'UTR|KRT80_uc001rzx.3_Missense_Mutation_p.K426T	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	426						keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GCTGCCCTTCTTCTTTCGGGA	0.577000														52			21		0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147795922	147795922	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:147795922C>T	uc003ikx.4	-	7	1073	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	TTC29_uc003ikw.4_Missense_Mutation_p.E249K|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.E249K	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	249							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGTTTGTATTCTTTATTTTCT	0.403000														21			6		0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7014914	7014914	+	Silent	SNP	C	T	T	rs116430099	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7014914C>T	uc001qrt.4	+	1	509	c.117C>T	c.(115-117)ttC>ttT	p.F39F	LRRC23_uc009zfg.2_Intron|LRRC23_uc001qrp.3_Silent_p.F39F|LRRC23_uc001qrq.3_Silent_p.F39F|LRRC23_uc001qrs.3_Missense_Mutation_p.S25F|LRRC23_uc009zfh.3_Silent_p.F39F	NM_001135217	NP_964013	Q53EV4	LRC23_HUMAN	Homo sapiens leucine rich repeat containing 23 (LRRC23), transcript variant 3, mRNA.	39										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						gggaagagTTCCCTGAGGAAG	0.557000														51			20		0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15265021	15265021	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:15265021C>T	uc003bzn.3	+	5	948	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	Homo sapiens calpain 7 (CAPN7), mRNA.	226					proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						ATGTTCCTTTCATGAATGTTG	0.318000														105			29		0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39064597	39064597	+	Silent	SNP	G	A	A	rs138598029	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:39064597G>A	uc001rls.1	-	18	1524	c.1440C>T	c.(1438-1440)gtC>gtT	p.V480V	CPNE8_uc001rlr.1_Silent_p.V139V	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	480	VWFA.							p.M479I(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CATCCAATTCGACCATTGCTT	0.338000														45			17		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291465	33291465	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:33291465G>A	uc001wrq.3	+	12	4616	c.4446G>A	c.(4444-4446)atG>atA	p.M1482I		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1482					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AATTACCAATGATAATGAAAC	0.358000														52			21		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7651534	7651534	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7651534C>T	uc001qsz.3	-	3	836	c.708G>A	c.(706-708)tgG>tgA	p.W236*	CD163_uc001qta.3_Nonsense_Mutation_p.W236*|CD163_uc009zfw.2_Nonsense_Mutation_p.W236*	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	236	SRCR 2.				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						GTTTGCAGTTCCAGAGAGCTG	0.433000														172			55		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61962822	61962822	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61962822C>T	uc001jky.3	-	11	1668	c.1330G>A	c.(1330-1332)Ggg>Agg	p.G444R	ANK3_uc010qih.2_Missense_Mutation_p.G427R|ANK3_uc001jkz.4_Missense_Mutation_p.G438R|ANK3_uc001jlb.1_5'UTR|ANK3_uc001jlc.1_Missense_Mutation_p.G105R	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	444					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						TTTACATGCCCCATGAAGGCA	0.433000														59			16		0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	14925592	14925592	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:14925592C>T	uc001avm.4	+	0	380	c.99C>T	c.(97-99)acC>acT	p.T33T	KAZN_uc009vog.1_Silent_p.T33T	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	33					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TCACGGCCACCAACCGGAGAC	0.731000														40			12		0	0	1	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239242627	239242627	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:239242627G>A	uc002vye.3	+	6	1133	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	TRAF3IP1_uc002vyf.3_Silent_p.K338K	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	Homo sapiens TNF receptor-associated factor 3 interacting protein 1 (TRAF3IP1), transcript variant 1, mRNA.	338	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GAGCTTCCAAGTCATTGACAA	0.299000														29			6		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921586	247921586	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247921586C>T	uc010pza.2	-	0	123	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41W(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGAGCATGTTCCCCAAGGTGG	0.483000														31			10		0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52799986	52799986	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52799986G>A	uc001sai.1	-	0	191	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	26	Head.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GTGACCATCCGGGGCATGACA	0.622000														32			4		0	0	1	0	0
TCRBV20S1	0	broad.mit.edu	37	7	142032418	142032418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142032418C>T	uc011krs.1	+	1	271	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron					Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds.																		ATCGGGGCTTCCCCGTGATCG	0.552000														16			14		0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612962	53612962	+	Silent	SNP	C	T	T	rs148927334		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53612962C>T	uc002qax.3	-	6	829	c.480G>A	c.(478-480)acG>acA	p.T160T	ZNF415_uc010yds.2_Silent_p.T112T|ZNF415_uc010ydt.2_Silent_p.T112T|ZNF415_uc002qau.3_Silent_p.T99T|ZNF415_uc002qav.3_Silent_p.T124T|ZNF415_uc002qaw.3_Silent_p.T112T|ZNF415_uc002qay.3_Silent_p.T99T|ZNF415_uc002qaz.3_Silent_p.T160T|ZNF415_uc002qba.3_5'UTR			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	p.Y160C(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CTTTTGGGGCCGTAGTCACTT	0.383000														106			7		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307109	54307109	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54307109C>T	uc021smr.1	+	0	2009	c.2009C>T	c.(2008-2010)tCa>tTa	p.S670L	UNC13C_uc021sms.1_Missense_Mutation_p.S670L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	670					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)		GGCTTGGATTCATCCACCCAG	0.413000														69			30		0	0	1	0	0
KLHL5	51088	broad.mit.edu	37	4	39083717	39083717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:39083717C>T	uc003gtr.2	+	3	1259	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	KLHL5_uc003gtp.3_Missense_Mutation_p.R280C|KLHL5_uc003gtq.3_Missense_Mutation_p.R139C|KLHL5_uc003gts.3_Missense_Mutation_p.R326C|KLHL5_uc003gtt.3_Missense_Mutation_p.R265C	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	326						cytoplasm|cytoskeleton	actin binding	p.R326C(6)|p.R326G(2)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TCTTGGAATTCGTTCTTTTGC	0.393000														221			72		0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41086272	41086272	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41086272C>T	uc002oob.3	+	6	492	c.443C>T	c.(442-444)cCt>cTt	p.P148L	SHKBP1_uc002ooc.3_Missense_Mutation_p.P148L|SHKBP1_uc010xvl.1_Missense_Mutation_p.P71L|SHKBP1_uc002ooe.3_5'UTR|SHKBP1_uc010xvm.2_5'UTR|SHKBP1_uc010xvn.2_Missense_Mutation_p.P26L	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	148						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTAGTGGGGCCTCAGCAGCTA	0.582000														41			13		0	0	1	0	0
CLP1	10978	broad.mit.edu	37	11	57427291	57427291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57427291C>T	uc001nkw.3	+	1	482	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	CLP1_uc010rjw.2_Missense_Mutation_p.P115S|CLP1_uc009yml.3_Missense_Mutation_p.P115S	NM_006831	NP_006822	Q92989	CLP1_HUMAN	Homo sapiens CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae) (CLP1), transcript variant 1, mRNA.	115					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|tRNA splicing, via endonucleolytic cleavage and ligation|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						AGAGCGAGGTCCCCGAGTGAT	0.552000														42			14		0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64056670	64056670	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64056670C>T	uc010rni.2	+	8	1289	c.1261C>T	c.(1261-1263)Ccc>Tcc	p.P421S	GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_3'UTR|GPR137_uc001nzi.3_3'UTR|GPR137_uc021qkt.1_Missense_Mutation_p.P363S|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.	363						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CAGACGTGATCCCCCTCCCTC	0.647000														76			30		0	0	1	0	0
MOS	4342	broad.mit.edu	37	8	57026446	57026446	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:57026446C>T	uc011leb.2	-	0	96	c.96G>A	c.(94-96)gcG>gcA	p.A32A		NM_005372	NP_005363	P00540	MOS_HUMAN	Homo sapiens v-mos Moloney murine sarcoma viral oncogene homolog (MOS), mRNA.	32							ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GAAGCAGCTTCGCAGGTAGCT	0.701000														22			13		0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1456817	1456817	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:1456817C>T	uc002wfg.2	-	4	1252	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	SIRPB2_uc002wfh.3_Missense_Mutation_p.E244K	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA.	342						integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACCCCTCACTCTTGACCCTTG	0.612000														94			30		0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178565851	178565851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:178565851C>T	uc002ulq.3	-	13	2560	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K	PDE11A_uc002ulp.3_Missense_Mutation_p.E304K|PDE11A_uc002ulr.3_Missense_Mutation_p.E498K|PDE11A_uc002uls.1_Missense_Mutation_p.E390K|PDE11A_uc002ult.1_Missense_Mutation_p.E498K|PDE11A_uc002ulu.1_Missense_Mutation_p.E390K	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	748	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.S747G(1)		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)			GCCTGTACCTCACTTTGAAGG	0.502000									Primary Pigmented Nodular Adrenocortical Disease, Familial					27			7		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842311	5842311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5842311C>T	uc010qzp.2	+	0	746	c.746C>T	c.(745-747)tCc>tTc	p.S249F	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	249			S -> A (in dbSNP:rs8181529).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACATGTGTTCCATTGTGATC	0.428000														117			11		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143921	55143921	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55143921C>T	uc002qgj.3	+	6	1008	c.668C>T	c.(667-669)tCt>tTt	p.S223F	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.S223F|LILRB1_uc002qgk.3_Missense_Mutation_p.S223F|LILRB1_uc002qgm.3_Missense_Mutation_p.S223F|LILRB1_uc010erq.3_Missense_Mutation_p.S223F|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.	223	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			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)		CCAGGTGTTTCTAAGAAGCCA	0.557000										HNSCC(37;0.09)				80			34		0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97604280	97604280	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:97604280G>A	uc010qoj.2	+	4	560	c.497G>A	c.(496-498)aGg>aAg	p.R166K	ENTPD1_uc001kle.1_Missense_Mutation_p.R161K|ENTPD1_uc001kli.4_Missense_Mutation_p.R161K|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Missense_Mutation_p.R46K|ENTPD1_uc010qol.2_Missense_Mutation_p.R46K|ENTPD1_uc001klh.4_Missense_Mutation_p.R154K|ENTPD1_uc010qom.2_Missense_Mutation_p.R154K|ENTPD1_uc010qon.2_Missense_Mutation_p.R16K|ENTPD1_uc009xva.3_Missense_Mutation_p.R16K	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	154					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GTGGTGGAGAGGAGCCTCAGC	0.458000														188			15		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160463	132160463	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:132160463C>T	uc011mvf.2	-	0	1838	c.1786G>A	c.(1786-1788)Gat>Aat	p.D596N	USP26_uc010nrm.1_Missense_Mutation_p.D596N	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	596					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GCCAGGATATCTTTGGATTCC	0.398000														24			31		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903153	5903153	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:5903153G>A	uc002wmg.3	+	3	669	c.363G>A	c.(361-363)gaG>gaA	p.E121E	CHGB_uc010zqz.2_Intron	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	121						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAGACACAGAGAAATGGGCAG	0.627000														22			21		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24436904	24436904	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:24436904C>T	uc003ned.1	-	21	2369	c.2258G>A	c.(2257-2259)gGa>gAa	p.G753E		NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	753						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GCCGTCTTCTCCCCCAATCAG	0.443000														74			28		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109707875	109707875	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:109707875C>T	uc010agk.2	+	26	3889	c.3267C>T	c.(3265-3267)gtC>gtT	p.V1089V	MYO16_uc001vqt.1_Silent_p.V1067V|MYO16_uc001vqu.1_Silent_p.V867V|MYO16_uc010tjh.1_Silent_p.V579V	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1067	Myosin head-like 2.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATATTGGGGTCCTGGAGATGG	0.428000														121			31		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118383	118383	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000205.1:118383G>A	uc002kgk.4	+	0		c.1761G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		ACATCCCAGTGACTGACAACC	0.572000														134			9		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48762084	48762084	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48762084C>T	uc002isl.3	+	28	4208	c.4128C>T	c.(4126-4128)ttC>ttT	p.F1376F	ABCC3_uc002isn.3_Silent_p.F130F	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1376	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCATCCTGTTCTCGGGGACCC	0.602000														90			25		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79351739	79351739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:79351739G>A	uc021yaw.1	+	2	615	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	142	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CGGCTCCCTAGAGCTCTACCT	0.572000														86			29		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22025612	22025612	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:22025612G>A	uc001rfh.3	-	15	2165	c.2145C>T	c.(2143-2145)ctC>ctT	p.L715L	ABCC9_uc001rfi.1_Silent_p.L715L	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	715	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGATGGCAAGGAGAAGAGAGG	0.423000														172			77		0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28127349	28127349	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:28127349G>A	uc001url.4	-	7	2083	c.1774C>T	c.(1774-1776)Ccc>Tcc	p.P592S	LNX2_uc001urm.1_Missense_Mutation_p.P592S	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	592							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CAGTACCTGGGAAGCCCAAGC	0.473000														86			9		0	0	1	0	0
MTAP	4507	broad.mit.edu	37	9	21859377	21859377	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21859377C>T	uc003zph.3	+	6	879	c.766C>T	c.(766-768)Cct>Tct	p.P256S	MTAP_uc003zpi.1_Intron|MTAP_uc010mit.3_Non-coding_Transcript|MTAP_uc011lnk.2_Missense_Mutation_p.P273S|MTAP_uc011lnl.2_Missense_Mutation_p.P189S	NM_002451	NP_002442	Q13126	MTAP_HUMAN	Homo sapiens methylthioadenosine phosphorylase (MTAP), mRNA.	256					nucleoside metabolic process	cytoplasm	S-methyl-5-thioadenosine phosphorylase activity|phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	CACTACCATACCTCAGATAGG	0.458000														47			5		0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129691083	129691083	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:129691083G>A	uc003vpi.3	-	0	151	c.124C>T	c.(124-126)Ccg>Tcg	p.P42S		NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	42					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					CCCTCTTCCGGGGCAATCCCC	0.597000														84			42		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117110	117110	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000205.1:117110C>T	uc002kgk.4	+	0		c.488C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		ACGCAGACTCCTGCGAGTTCC	0.438000														99			8		0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101567960	101567960	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:101567960C>T	uc001kqf.2	+	12	1928	c.1789C>T	c.(1789-1791)Ccc>Tcc	p.P597S		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	597	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GAGCATGCTTCCCATGATGAT	0.483000														161			58		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119729101	119729101	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:119729101G>A	uc002tln.1	+	3	583	c.451G>A	c.(451-453)Ggc>Agc	p.G151S	MARCO_uc010yyf.1_Missense_Mutation_p.G73S	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	151	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.G151G(1)		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						AGGTGAACAAGGCGCCCCAGG	0.582000														88			39		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170965663	170965663	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:170965663C>T	uc010plz.2	+	13	1507	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A	C1orf129_uc001ghg.3_Silent_p.A451A|C1orf129_uc009wvy.3_Silent_p.A258A	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	451							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCCAGGATGCCCTGAGAGTTC	0.418000														86			30		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71511997	71511997	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:71511997C>T	uc001xmo.2	+	19	4461	c.4015C>T	c.(4015-4017)Cga>Tga	p.R1339*	PCNX_uc010are.1_Nonsense_Mutation_p.R1228*|PCNX_uc010arf.1_Nonsense_Mutation_p.R199*	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1339						integral to membrane		p.R1339*(2)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTATGAAGTTCGAAGTAAGTA	0.343000														59			24		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38936375	38936375	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38936375C>T	uc021wvy.1	-	14	2683	c.2484G>A	c.(2482-2484)agG>agA	p.R828R	SCN11A_uc010hhn.1_5'UTR	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	828					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTTTAGTTTTCCTGGCCTCTC	0.468000														58			20		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	140990817	140990817	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:140990817C>T	uc002tvj.1	-	90	14710	c.13738G>A	c.(13738-13740)Gat>Aat	p.D4580N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4580					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCTTTCATCAACACTTCCT	0.318000										TSP Lung(27;0.18)				55			15		0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83224840	83224840	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83224840G>A	uc002bit.3	-	4	956	c.819C>T	c.(817-819)ttC>ttT	p.F273F	CPEB1_uc002bir.3_Silent_p.F138F|CPEB1_uc002bis.3_Silent_p.F138F|CPEB1_uc010uod.2_5'UTR|CPEB1_uc002biq.3_Silent_p.F138F|CPEB1_uc010uoe.2_Silent_p.F216F|CPEB1_uc002biu.3_Silent_p.F240F|CPEB1_uc010uof.2_Silent_p.F138F|CPEB1_uc002biv.3_Silent_p.F213F|CPEB1_uc002bip.3_5'UTR	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	213					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACAGAGACAGGAAGGGCAGAG	0.493000														32			6		0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21548263	21548263	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:21548263G>A	uc001bek.2	-	17	2188	c.2113C>T	c.(2113-2115)Ctc>Ttc	p.L705F	ECE1_uc001bem.2_Missense_Mutation_p.L689F|ECE1_uc001bej.2_Missense_Mutation_p.L693F|ECE1_uc001bei.2_Missense_Mutation_p.L702F|ECE1_uc010odl.1_Intron	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	705					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGGAAGAAGAGCTGGTTATTG	0.532000														231			84		0	0	1	0	0
ZNF74	7625	broad.mit.edu	37	22	20760871	20760871	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:20760871C>T	uc010gsm.3	+	5	1760	c.1548C>T	c.(1546-1548)atC>atT	p.I516I	ZNF74_uc002zsg.3_Silent_p.I445I|ZNF74_uc002zsh.3_Silent_p.I516I|ZNF74_uc002zsi.3_Silent_p.I445I|ZNF74_uc010gsn.3_Silent_p.I445I	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.	516					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGTCCCTCATCGTGCACCAGC	0.592000														98			32		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081132	152081132	+	Missense_Mutation	SNP	C	T	T	rs71585886		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152081132C>T	uc009wne.1	-	2	4833	c.4561G>A	c.(4561-4563)Gaa>Aaa	p.E1521K	TCHH_uc001ezp.2_Missense_Mutation_p.E1521K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1521	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGCTGTTCCTCCTCGAGG	0.607000														128			25		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123019089	123019089	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:123019089C>T	uc003egh.2	-	14	2778	c.2778G>A	c.(2776-2778)caG>caA	p.Q926Q	ADCY5_uc021xdd.1_Silent_p.Q576Q|ADCY5_uc003egg.2_Silent_p.Q559Q|ADCY5_uc003egi.1_Silent_p.Q485Q	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	926					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGCAGCTGATCTGCAGGAACA	0.637000														28			13		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71096192	71096192	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71096192G>A	uc002ezr.3	-	16	2407	c.2256C>T	c.(2254-2256)ccC>ccT	p.P752P	HYDIN_uc010cfz.2_Silent_p.P497P|HYDIN_uc021tkq.1_Silent_p.P752P|HYDIN_uc010vmc.2_Silent_p.P769P|HYDIN_uc010vmd.2_Silent_p.P779P	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	752										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)				TGACCCCGCTGGGGGTGGGGC	0.552000														7			3		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96904252	96904252	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:96904252G>A	uc001yfn.2	+	6	734	c.690_splice	c.e6+1	p.K230_splice		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	230					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)		CATTTTTTAAGGTATGGCTTT	0.398000														64			6		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123695634	123695634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:123695634C>T	uc010nqy.3	-	13	2385	c.2321G>A	c.(2320-2322)cGa>cAa	p.R774Q	ODZ1_uc011muj.2_Missense_Mutation_p.R773Q|ODZ1_uc004euj.3_Missense_Mutation_p.R774Q	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	774	EGF-like 8.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.R776Q(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CAGGGTACATCGTCCATTTCC	0.473000														28			40		0	0	1	0	0
VRK2	7444	broad.mit.edu	37	2	58359011	58359011	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:58359011C>T	uc002rzo.2	+	11	1490	c.745C>T	c.(745-747)Ccc>Tcc	p.P249S	VRK2_uc010fcb.2_Missense_Mutation_p.P249S|VRK2_uc002rzt.3_Missense_Mutation_p.P131S|VRK2_uc002rzs.3_Missense_Mutation_p.P249S|VRK2_uc002rzv.3_Missense_Mutation_p.P249S|VRK2_uc010fcd.3_Missense_Mutation_p.P226S|VRK2_uc002rzu.3_Missense_Mutation_p.P249S|VRK2_uc010fcc.3_Missense_Mutation_p.P131S|VRK2_uc002rzp.3_Missense_Mutation_p.P249S|VRK2_uc010ypg.2_Missense_Mutation_p.P249S|VRK2_uc010yph.1_Missense_Mutation_p.P131S	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	Homo sapiens vaccinia related kinase 2 (VRK2), transcript variant 4, mRNA.	249	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TGGGAAACTTCCCTGGGAACA	0.473000														84			38		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33588480	33588480	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:33588480G>A	uc021vft.1	+	28	4317	c.4294G>A	c.(4294-4296)Gga>Aga	p.G1432R	LTBP1_uc002rou.3_Missense_Mutation_p.G1106R|LTBP1_uc002rov.3_Missense_Mutation_p.G1053R|LTBP1_uc010ymz.2_Missense_Mutation_p.G1064R|LTBP1_uc010yna.2_Missense_Mutation_p.G1011R|LTBP1_uc010ynb.2_Missense_Mutation_p.G330R	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1432	EGF-like 15; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCTACTTTTTGGACAAGAAAT	0.383000														77			22		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626553	142626553	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142626553G>A	uc003wby.1	-	3	721	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	TRPV5_uc003wbz.3_Missense_Mutation_p.R153C	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	153					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.R153L(1)|p.R153H(1)|p.R153R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGACTACGGCGGAAGGCAGTG	0.617000														74			32		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370313	240370313	+	Missense_Mutation	SNP	G	A	A	rs140911005		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240370313G>A	uc010pye.2	+	5	2438	c.2213G>A	c.(2212-2214)cGg>cAg	p.R738Q	FMN2_uc010pyd.2_Missense_Mutation_p.R734Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	734					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGGAAGTACGGCATCATAGG	0.557000														40			10		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394440	164394441	+	Missense_Mutation	DNP	CC	TT	TT	rs147436359		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:164394440_164394441CC>TT	uc003iqp.4	-	0	607_608	c.446_447GG>AA	c.(445-447)cgg>cAA	p.R149Q		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	149						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGCAGAACACCCGGTAGCTGGC	0.530000														86			19		0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145537316	145537316	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:145537316G>A	uc003lnx.1	-	8	1052	c.814C>T	c.(814-816)Ctt>Ttt	p.L272F	LARS_uc011dbq.1_Missense_Mutation_p.L226F|LARS_uc011dbr.1_Missense_Mutation_p.L218F|LARS_uc011dbs.1_Missense_Mutation_p.L245F	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	272	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TATGGCTCAAGCACCTTCAAT	0.348000														64			34		0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109766349	109766349	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:109766349G>A	uc021xqo.1	-	27	1630	c.1574C>T	c.(1573-1575)cCt>cTt	p.P525L	COL25A1_uc003hze.1_Missense_Mutation_p.P525L|COL25A1_uc021xqp.1_Missense_Mutation_p.P525L|COL25A1_uc003hzg.3_Missense_Mutation_p.P525L|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.P283L	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	525						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ACTTACAGAAGGACCCTGTGG	0.453000														184			70		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15996760	15996760	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15996760C>T	uc002nbs.1	-	8	1139	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K	CYP4F2_uc010xot.1_Silent_p.K214K|CYP4F2_uc010xou.1_3'UTR	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	363					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCTCACGGTCCTTCAGAAGTT	0.577000														79			32		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526469	84526469	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:84526469C>T	uc004eeq.3	+	9	2945	c.2059C>T	c.(2059-2061)Cat>Tat	p.H687Y	ZNF711_uc004eep.3_Missense_Mutation_p.H641Y|ZNF711_uc004eeo.3_Missense_Mutation_p.H641Y|ZNF711_uc011mqy.1_Missense_Mutation_p.H240Y	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	641					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TAGTGATATCCATAAGGGTAG	0.388000														14			17		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76735651	76735651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:76735651C>T	uc001jwn.1	+	7	2049	c.1556C>T	c.(1555-1557)cCc>cTc	p.P519L	KAT6B_uc001jwm.1_Intron|KAT6B_uc001jwo.1_Intron|KAT6B_uc001jwp.1_Intron	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	519	Negatively regulates HAT activity.|Ser-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TCTCCCTCTCCCCAGAGTTCT	0.547000														86			35		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834543	101834543	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:101834543G>A	uc003knn.3	-	0	178	c.6C>T	c.(4-6)ttC>ttT	p.F2F	SLCO6A1_uc003kno.3_Silent_p.F2F|SLCO6A1_uc003knp.3_Silent_p.F2F|SLCO6A1_uc003knq.3_Silent_p.F2F	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	2						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CGACGCCTACGAACATGGCTC	0.711000														137			62		0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76232504	76232504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:76232504C>T	uc010ask.2	+	20	2125	c.1850C>T	c.(1849-1851)tCc>tTc	p.S617F	TTLL5_uc001xrx.3_Missense_Mutation_p.S603F|TTLL5_uc001xrz.3_Missense_Mutation_p.S178F|TTLL5_uc001xry.1_Non-coding_Transcript	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	603					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAGGAGGCTTCCCAGGAGGAG	0.403000														39			20		0	0	1	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20873685	20873685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20873685G>A	uc002dhz.3	-	1	317	c.176C>T	c.(175-177)gCc>gTc	p.A59V	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) (DCUN1D3), mRNA.	59					negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of apoptosis|response to UV-C|response to gamma radiation	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GGCAGCCTCGGCCTTCTTGGT	0.597000														159			83		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91709262	91709262	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:91709262C>T	uc003ulg.3	+	30	8040	c.7815C>T	c.(7813-7815)acC>acT	p.T2605T	AKAP9_uc003ulf.3_Silent_p.T2597T|AKAP9_uc003uli.3_Silent_p.T2228T|AKAP9_uc003ulj.3_Silent_p.T375T	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2617	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGCATTAACCTTGAGAATAT	0.289000			T	BRAF	papillary thyroid									80			43		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83931724	83931724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83931724G>A	uc002bjt.1	-	3	2367	c.2279C>T	c.(2278-2280)cCc>cTc	p.P760L	BNC1_uc010uos.1_Missense_Mutation_p.P748L	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	760					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CCTGCGGGAGGGAAAGGTAGC	0.428000														33			20		0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10796537	10796537	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:10796537C>T	uc021ylk.1	-	8	1119	c.837G>A	c.(835-837)ttG>ttA	p.L279L	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Silent_p.L279L|MAK_uc021yll.1_Silent_p.L279L|MAK_uc010jov.2_Non-coding_Transcript|MAK_uc021ylm.1_Non-coding_Transcript	NM_001242957	NP_001229886	P20794	MAK_HUMAN	Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA.	279	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				ATGGGTGTTTCAATGCCTATA	0.373000														63			15		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41900474	41900474	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:41900474C>T	uc010skn.2	+	3	1068	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	PDZRN4_uc001rmq.4_Missense_Mutation_p.P96S|PDZRN4_uc009zjz.3_Missense_Mutation_p.P94S|PDZRN4_uc001rmr.3_5'Flank	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	354							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCCACCTACCCCTCCAGTGCC	0.483000														89			16		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067975	11067975	+	Silent	SNP	C	T	T	rs144261418		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:11067975C>T	uc010hdq.3	+	9	1419	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	336					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TCGCAGGATTCGTCATCTTCT	0.592000														103			35		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113562671	113562671	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113562671C>T	uc022blv.1	+	14	2147	c.2013C>T	c.(2011-2013)tcC>tcT	p.S671S	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Silent_p.S582S|MUSK_uc022blu.1_Silent_p.S572S	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	671	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GCAGCATGTCCCCTCACACCG	0.572000														120			35		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8485972	8485972	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:8485972C>T	uc003zkk.3	-	27	3588	c.2845G>A	c.(2845-2847)Ggc>Agc	p.G949S	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	949	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTGATAATGCCATTTCTCTCT	0.478000										TSP Lung(15;0.13)				91			10		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157514069	157514069	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157514069G>A	uc009wsm.3	-	4	985	c.827C>T	c.(826-828)tCc>tTc	p.S276F	FCRL5_uc001fqu.3_Missense_Mutation_p.S276F|FCRL5_uc010phv.1_Missense_Mutation_p.S276F|FCRL5_uc010phw.1_Missense_Mutation_p.S191F|FCRL5_uc001fqv.1_Missense_Mutation_p.S276F|FCRL5_uc010phx.2_Missense_Mutation_p.S27F	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	276						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTGTATCCAGGATCTCGGGCT	0.507000														155			26		0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72443165	72443165	+	Nonstop_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72443165T>G	uc002jkp.3	+	3	1970	c.1459T>G	c.(1459-1461)Tga>Gga	p.*487G	GPRC5C_uc002jkq.3_3'UTR|GPRC5C_uc002jkr.3_Nonstop_Mutation_p.*454G|GPRC5C_uc002jkt.3_Intron|GPRC5C_uc002jku.3_Intron	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	0						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CGTGTGGGACTGAGTCAGCGG	0.667000														84			30		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522873	23522873	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:23522873C>T	uc003jgo.3	+	7	943	c.761C>T	c.(760-762)cCt>cTt	p.P254L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	254	SET.				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						TCAGGCATCCCTCAGGCTGGG	0.582000										HNSCC(3;0.000094)				57			5		0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207358	58207358	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58207358G>A	uc010rkh.2	-	0	289	c.267C>T	c.(265-267)ttC>ttT	p.F89F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F89L(2)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TATATAATATGAATTTGTCTC	0.453000														60			24		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11642314	11642314	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11642314G>A	uc002gne.3	+	28	6000	c.5932G>A	c.(5932-5934)Ggc>Agc	p.G1978S	DNAH9_uc010coo.3_Missense_Mutation_p.G1272S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1978	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGCTATGCTGGCCGCACAGA	0.488000														37			11		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74623563	74623563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74623563G>A	uc002axo.3	+	14	2091	c.1697G>A	c.(1696-1698)cGg>cAg	p.R566Q	CCDC33_uc002axp.3_Missense_Mutation_p.R388Q|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Missense_Mutation_p.R159Q|CCDC33_uc002axr.3_Missense_Mutation_p.R159Q	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	769							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AAGATGGAGCGGGTGCTGGAG	0.642000														57			10		0	0	1	0	0
GMCL1	64395	broad.mit.edu	37	2	70096880	70096880	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:70096880C>T	uc002sfu.3	+	11	1455	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F		NM_178439	NP_848526	Q96IK5	GMCL1_HUMAN	Homo sapiens germ cell-less homolog 1 (Drosophila) (GMCL1), mRNA.	416					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GTTTTAACTTCGGCTTCGACC	0.358000														111			22		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33134586	33134586	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33134586C>T	uc003ocx.1	-	58	4477	c.4249G>A	c.(4249-4251)Gga>Aga	p.G1417R	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G1331R|COL11A2_uc003ocz.1_Missense_Mutation_p.G1310R	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1417	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCAATCAGTCCAATGAGACCT	0.607000														39			4		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15600127	15600127	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15600127C>T	uc001ioc.1	-	25	2712	c.2712G>A	c.(2710-2712)agG>agA	p.R904R	ITGA8_uc010qcb.1_Silent_p.R889R	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	904					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CATCCCTCTTCCTGACAAGAT	0.498000														88			30		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140362060	140362060	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140362060C>T	uc003lii.3	+	3	3230	c.2625_splice	c.e3-1	p.S875_splice	PCDHAC2_uc003lha.2_Splice_Site_p.S554_splice|PCDHAC2_uc003lhb.2_Splice_Site_p.S818_splice|PCDHAC2_uc003lhd.2_Splice_Site_p.S816_splice|PCDHAC2_uc003lhf.2_Splice_Site_p.S818_splice|PCDHAC2_uc003lhh.1_Splice_Site_p.S815_splice|PCDHAC2_uc003lhi.2_Splice_Site_p.S815_splice|PCDHAC2_uc003lhl.2_Splice_Site_p.S804_splice|PCDHAC2_uc003lhk.1_Splice_Site_p.S804_splice|PCDHAC2_uc003lho.2_Splice_Site_p.S818_splice|PCDHAC2_uc003lhn.2_Splice_Site_p.S554_splice|PCDHAC2_uc003lhq.2_Splice_Site_p.S805_splice|PCDHAC2_uc003lhs.2_Splice_Site_p.S818_splice|PCDHAC2_uc003lhu.2_Splice_Site_p.S818_splice|PCDHAC2_uc003lhw.2_Splice_Site_p.S553_splice|PCDHAC2_uc003lhx.2_Splice_Site_p.S816_splice|PCDHAC2_uc003lia.2_Splice_Site_p.S817_splice|PCDHAC2_uc003lic.2_Splice_Site_p.S809_splice|PCDHAC2_uc003lif.2_Splice_Site_p.S818_splice|PCDHAC2_uc003lie.1_Splice_Site_p.S818_splice|PCDHAC2_uc003lih.2_Splice_Site_p.S831_splice	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	875	4 X 4 AA repeats of P-X-X-P.				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)			GTTTATTCAGCTCTGTGCACC	0.502000														56			28		0	0	1	0	0
FOXR1	283150	broad.mit.edu	37	11	118850327	118850327	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118850327G>A	uc001pui.3	+	3	785	c.560G>A	c.(559-561)aGa>aAa	p.R187K	FOXR1_uc001puj.3_Non-coding_Transcript|FOXR1_uc001puk.3_Intron	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	Homo sapiens forkhead box R1 (FOXR1), mRNA.	187					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CTGGCATTAAGAAACAGTTCC	0.637000														111			44		0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121997	50121997	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50121997G>A	uc001jhd.3	-	0	284	c.204C>T	c.(202-204)tcC>tcT	p.S68S	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.S68S	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	68						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						ACTTGGAGATGGAGTCAGGGA	0.532000														43			11		0	0	1	0	0
USP38	84640	broad.mit.edu	37	4	144133528	144133528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:144133528C>T	uc003ijb.3	+	7	2089	c.1555C>T	c.(1555-1557)Ccc>Tcc	p.P519S	USP38_uc003ija.4_Missense_Mutation_p.P519S|USP38_uc003ijc.3_Non-coding_Transcript	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.	519					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					ATGGTTTACTCCCAGATCACA	0.378000														93			23		0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89653337	89653337	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:89653337C>T	uc003hse.1	-	21	2867	c.2659G>A	c.(2659-2661)Ggg>Agg	p.G887R	FAM13A_uc011cdp.1_5'UTR|FAM13A_uc003hsa.1_Missense_Mutation_p.G330R|FAM13A_uc003hsb.1_Missense_Mutation_p.G561R|FAM13A_uc003hsd.1_Missense_Mutation_p.G533R|FAM13A_uc003hsc.1_Missense_Mutation_p.G547R|FAM13A_uc011cdq.1_Missense_Mutation_p.G533R|FAM13A_uc003hsf.1_Missense_Mutation_p.G473R|FAM13A_uc003hsg.1_Missense_Mutation_p.G330R	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	887					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TCTTCTGACCCCTCCTCTTCT	0.413000														60			30		0	0	1	0	0
TTYH1	57348	broad.mit.edu	37	19	54946752	54946752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54946752G>A	uc002qfr.3	+	10	1278	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	TTYH1_uc010yey.2_Missense_Mutation_p.R416Q|TTYH1_uc002qfq.3_Missense_Mutation_p.E386K|TTYH1_uc002qft.3_Missense_Mutation_p.E386K	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN	Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA.	386					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GGGCCTGTGCGAAGACGCCCT	0.677000														46			18		0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153546	5153546	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5153546G>A	uc010qyx.2	-	0	327	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAATTGCCTGGAATGAGTGAA	0.453000														47			13		0	0	1	0	0
TMEM198	130612	broad.mit.edu	37	2	220412343	220412343	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220412343G>A	uc002vme.3	+	3	867	c.282G>A	c.(280-282)gcG>gcA	p.A94A	TMEM198_uc002vmf.3_Silent_p.A94A	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	Homo sapiens transmembrane protein 198 (TMEM198), mRNA.	94	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GTGCTGGGGCGAGCGCGGGCA	0.657000														165			93		0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97192238	97192238	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:97192238G>A	uc001kkp.3	-	3	313	c.268C>T	c.(268-270)Cct>Tct	p.P90S	SORBS1_uc001kkn.3_Missense_Mutation_p.P46S|SORBS1_uc001kkm.3_Missense_Mutation_p.P78S|SORBS1_uc001kko.3_Missense_Mutation_p.P90S|SORBS1_uc001kkq.3_Missense_Mutation_p.P90S|SORBS1_uc001kkr.3_Missense_Mutation_p.P58S|SORBS1_uc001kks.3_Missense_Mutation_p.P58S|SORBS1_uc001kkt.3_Non-coding_Transcript|SORBS1_uc001kku.3_Missense_Mutation_p.P90S|SORBS1_uc001kkv.3_Missense_Mutation_p.P58S|SORBS1_uc001kkw.3_Missense_Mutation_p.P90S|SORBS1_uc010qoe.2_Missense_Mutation_p.P58S|SORBS1_uc010qof.1_Missense_Mutation_p.P58S|SORBS1_uc001kkx.1_Missense_Mutation_p.P58S	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	90					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GTTTCCTGAGGGCTCGCAGGG	0.572000														119			26		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101739420	101739420	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:101739420C>T	uc001tia.1	+	36	4850	c.4694C>T	c.(4693-4695)aCt>aTt	p.T1565I		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1565					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTACAACTTACTCATTACCAT	0.358000														87			23		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71103356	71103356	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71103356G>A	uc002ezr.3	-	13	1939	c.1788C>T	c.(1786-1788)ccC>ccT	p.P596P	HYDIN_uc010cfz.2_Silent_p.P341P|HYDIN_uc021tkq.1_Silent_p.P596P|HYDIN_uc010vmc.2_Silent_p.P613P|HYDIN_uc010vmd.2_Silent_p.P623P|HYDIN_uc002ezw.4_Silent_p.P613P	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	596								p.I595N(1)		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)				TGTAAGTCATGGGGATCAAAG	0.443000														38			11		0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20893163	20893163	+	Missense_Mutation	SNP	G	A	A	rs149798560		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:20893163G>A	uc010sii.2	+	12	1949	c.1594G>A	c.(1594-1596)Gga>Aga	p.G532R	SLCO1C1_uc010sij.2_Missense_Mutation_p.G483R|SLCO1C1_uc009zip.3_Missense_Mutation_p.G366R|SLCO1C1_uc001rei.3_Missense_Mutation_p.G532R|SLCO1C1_uc010sik.2_Missense_Mutation_p.G414R	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	532					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TTCTAAATCCGGAAATTCCTC	0.353000														98			27		0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102609857	102609857	+	Silent	SNP	C	T	T	rs145134236	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:102609857C>T	uc022bky.1	+	7	2394	c.1626C>T	c.(1624-1626)atC>atT	p.I542I	NR4A3_uc004baf.1_Silent_p.I531I	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	531					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ACCTTGATATCCAAGCCTTAG	0.483000			T	EWSR1	extraskeletal myxoid chondrosarcoma									79			7		0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27911626	27911626	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27911626C>T	uc002rlk.4	+	11	2545	c.2263C>T	c.(2263-2265)Cca>Tca	p.P755S		NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.	755						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AACACCTGGTCCAGGCAAAGT	0.353000														49			11		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1670063	1670063	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1670063C>T	uc002qxa.3	-	9	1278	c.1214G>A	c.(1213-1215)gGg>gAg	p.G405E	PXDN_uc002qxb.1_Missense_Mutation_p.G405E|PXDN_uc002qxc.1_Missense_Mutation_p.G222E	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	405	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCCGCTGTCCCCCTGTACGAC	0.587000														36			9		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47941136	47941136	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:47941136C>T	uc010ele.3	-	5	1996	c.1980G>A	c.(1978-1980)gaG>gaA	p.E660E	SLC8A2_uc002pgx.3_Silent_p.E660E|SLC8A2_uc010xyq.2_Silent_p.E416E|SLC8A2_uc010xyr.2_Silent_p.E123E			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	660					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CGATGATGACCTCCAGCCGGC	0.577000														98			36		0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41077897	41077897	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:41077897G>A	uc003ayz.3	+	1	1502	c.1234G>A	c.(1234-1236)Gct>Act	p.A412T	MCHR1_uc003aza.3_Missense_Mutation_p.A301T|HV452684_uc003azb.1_Non-coding_Transcript	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	412					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CGCTCAGACGGCTGACGAGGA	0.607000														86			11		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54803315	54803315	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54803315G>A	uc002qfd.3	-	3	454	c.362C>T	c.(361-363)gCc>gTc	p.A121V	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Missense_Mutation_p.A121V	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	120	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.Y121Y(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTTGCTGTAGGCTCCTAGGAG	0.602000														158			24		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118624248	118624248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:118624248C>T	uc001ehk.2	-	13	1848	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K	SPAG17_uc021oss.1_5'Flank	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	594						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CGTTCTACTTCATTCCAGCTC	0.458000														102			31		0	0	1	0	0
NFAM1	150372	broad.mit.edu	37	22	42807591	42807591	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:42807591C>T	uc003bcn.4	-	1	311	c.273G>A	c.(271-273)agG>agA	p.R91R		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	Homo sapiens NFAT activating protein with ITAM motif 1 (NFAM1), mRNA.	91	Ig-like V-type.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						TCTTAGGGCTCCTCTGTCCCT	0.547000														86			34		0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73949573	73949573	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73949573G>A	uc002jqe.3	-	6	1264	c.903C>T	c.(901-903)atC>atT	p.I301I	ACOX1_uc010wsq.2_Silent_p.I263I|ACOX1_uc010wsr.2_Silent_p.I233I|ACOX1_uc002jqf.3_Silent_p.I301I	NM_004035	NP_001171968	Q15067	ACOX1_HUMAN	Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA.	301					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						CGCTGTATCGGATGGCAATGG	0.532000														65			22		0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116605158	116605158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:116605158C>T	uc001lcb.3	+	7	1381	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	FAM160B1_uc001lcc.3_Missense_Mutation_p.S349L	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	349										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GAAGATGCTTCAGCATTTCCA	0.358000														68			28		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370507	240370507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240370507G>A	uc010pye.2	+	5	2632	c.2407G>A	c.(2407-2409)Gac>Aac	p.D803N	FMN2_uc010pyd.2_Missense_Mutation_p.D799N	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	799	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGTCCAGCTCGACAGCCATCA	0.572000														74			22		0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8132554	8132554	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:8132554C>T	uc010rbm.1	-	5	939	c.885G>A	c.(883-885)atG>atA	p.M295I	RIC3_uc001mgb.2_Missense_Mutation_p.M105I|RIC3_uc010rbl.1_Missense_Mutation_p.M217I|RIC3_uc001mgd.2_Missense_Mutation_p.M267I|RIC3_uc001mgc.2_Missense_Mutation_p.M266I|RIC3_uc009yfm.2_Missense_Mutation_p.M186I|RIC3_uc001mge.2_Missense_Mutation_p.M85I|RIC3_uc009yfn.2_Missense_Mutation_p.M70I	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	267						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CCTCTTCTATCATTCCCATTC	0.448000														125			33		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240497465	240497465	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240497465G>A	uc010pye.2	+	13	4938	c.4713G>A	c.(4711-4713)caG>caA	p.Q1571Q	FMN2_uc010pyd.2_Silent_p.Q1567Q|FMN2_uc010pyf.1_Silent_p.Q213Q|FMN2_uc010pyg.2_Silent_p.Q163Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1567	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCTTTTTCAGGCCTCACAGA	0.363000														202			79		0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51629059	51629059	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51629059C>T	uc010yct.2	+	1	722	c.627C>T	c.(625-627)acC>acT	p.T209T	SIGLEC9_uc002pvu.3_Silent_p.T209T	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	209	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACCATGGCACCAGCCTCACCT	0.652000														120			11		0	0	1	0	0
SPA17	53340	broad.mit.edu	37	11	124551353	124551353	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124551353G>A	uc001qap.3	+	2	359	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_017425	NP_059121	Q15506	SP17_HUMAN	Homo sapiens sperm autoantigenic protein 17 (SPA17), mRNA.	75					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity	p.E75Q(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	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;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TCATGCATTCGAGGTATGGTC	0.378000														50			30		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101680176	101680176	+	Missense_Mutation	SNP	C	T	T	rs147399996		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:101680176C>T	uc001tia.1	+	4	560	c.404C>T	c.(403-405)tCg>tTg	p.S135L	UTP20_uc009ztz.1_Missense_Mutation_p.S135L	NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	135					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.S135L(2)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACTATCACCTCGATCCTGGAG	0.423000														199			84		0	0	1	0	0
NRIP2	83714	broad.mit.edu	37	12	2936434	2936434	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2936434C>T	uc001qlc.3	-	5	857	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	ITFG2_uc010sec.2_Intron|NRIP2_uc010sed.1_Missense_Mutation_p.R262Q	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	Homo sapiens nuclear receptor interacting protein 2 (NRIP2), mRNA.	262					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGCTTTCAGCCGCAGCACTCC	0.622000														24			12		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157665230	157665230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157665230C>T	uc001fqz.4	-	7	1592	c.1300G>A	c.(1300-1302)Gga>Aga	p.G434R	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.G160R|FCRL3_uc001frb.3_Missense_Mutation_p.G434R|FCRL3_uc001frc.1_Missense_Mutation_p.G434R	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	434	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AAGGAGGCTCCTCCTCCAGAG	0.562000														150			45		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36260883	36260883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:36260883C>T	uc010jwf.2	+	2	484	c.484C>T	c.(484-486)Ccc>Tcc	p.P162S	PNPLA1_uc010jwe.1_Missense_Mutation_p.P67S|PNPLA1_uc003olw.1_Missense_Mutation_p.P67S	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	162	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TGGCCTCATCCCCCCGACTTA	0.652000														71			29		0	0	1	0	0
ADI1	55256	broad.mit.edu	37	2	3504690	3504690	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:3504690G>A	uc002qxp.4	-	2	407	c.315C>T	c.(313-315)ttC>ttT	p.F105F	ADI1_uc010yiq.2_Non-coding_Transcript	NM_018269	NP_060739	Q9BV57	MTND_HUMAN	Homo sapiens acireductone dioxygenase 1 (ADI1), mRNA.	105					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CCCTCACATCGAAGTACCCAC	0.537000														60			14		0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3844784	3844784	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3844784G>A	uc002fwy.2	-	12	1883	c.1710C>T	c.(1708-1710)ccC>ccT	p.P570P	ATP2A3_uc002fwz.2_Silent_p.P570P|ATP2A3_uc002fxa.2_Silent_p.P570P|ATP2A3_uc002fxb.2_Silent_p.P570P|ATP2A3_uc002fxc.2_Silent_p.P570P|ATP2A3_uc002fxd.2_Silent_p.P570P|ATP2A3_uc002fwx.2_Silent_p.P570P	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	570					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.A569T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCTTCCTTGGGGGCGCGTCCC	0.647000														77			28		0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158114750	158114750	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:158114750G>A	uc002tzg.3	+	0	411	c.156G>A	c.(154-156)agG>agA	p.R52R	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	52					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TTGTGAGGAGGGAGCGGATAG	0.483000														147			47		0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73513451	73513451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:73513451C>T	uc003uaa.2	+	4	705	c.491C>T	c.(490-492)aCc>aTc	p.T164I	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Missense_Mutation_p.T130I|LIMK1_uc003uac.1_5'UTR	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	164					Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CACACCGTCACCCTGGTGTCC	0.647000														124			53		0	0	1	0	0
CXCR7	57007	broad.mit.edu	37	2	237489440	237489440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:237489440C>T	uc021vys.1	+	0	332	c.332C>T	c.(331-333)cCc>cTc	p.P111L	CXCR7_uc010fyq.3_Missense_Mutation_p.P111L|CXCR7_uc002vwd.3_Missense_Mutation_p.P111L	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	111					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		AACCAGTGGCCCATGGGCGAG	0.572000														107			29		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385254	41385254	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41385254G>A	uc002yyq.1	-	32	6198	c.5746C>T	c.(5746-5748)Cca>Tca	p.P1916S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1916				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGGTGCCTGGACCACCTCGG	0.522000														43			23		0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90450874	90450874	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:90450874C>T	uc001xxy.3	+	8	1198	c.899C>T	c.(898-900)cCc>cTc	p.P300L	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Missense_Mutation_p.P300L|TDP1_uc010atn.3_Missense_Mutation_p.P300L|TDP1_uc001xya.3_Missense_Mutation_p.P61L|TDP1_uc001xyb.3_Non-coding_Transcript|TDP1_uc001xyd.1_5'Flank	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	300					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGGTTGAGCCCCTTATACCCA	0.393000								Repair of DNA-protein crosslinks						211			50		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369238	22369238	+	Silent	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22369238T>G	uc010tzu.2	+	0	761	c.663T>G	c.(661-663)ctT>ctG	p.L221L	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATGCCTTCCTTCTGGCCTTGT	0.478000														125			52		0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34025289	34025289	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34025289G>A	uc010gfc.1	-	0	661	c.420C>T	c.(418-420)gtC>gtT	p.V140V	GDF5_uc002xck.1_Silent_p.V140V	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	140					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			AGGAGCTGGGGACAGATCCTG	0.647000														84			36		0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32742026	32742026	+	Silent	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32742026T>G	uc001bux.3	+	7	858	c.720T>G	c.(718-720)gtT>gtG	p.V240V	LCK_uc001buy.3_Silent_p.V240V|LCK_uc001buz.3_Silent_p.V240V|LCK_uc010ohc.1_Silent_p.V284V|LCK_uc001bva.3_Intron	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	240	Interaction with PTPRH.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	AGTGGGAGGTTCCCAGGGAGA	0.662000			T	TRB@	T-ALL									37			13		0	0	1	0	0
METTL22	79091	broad.mit.edu	37	16	8736037	8736037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:8736037C>T	uc002cyz.3	+	7	1156	c.880C>T	c.(880-882)Cac>Tac	p.H294Y	METTL22_uc021tcq.1_Non-coding_Transcript	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	Homo sapiens methyltransferase like 22 (METTL22), mRNA.	294							methyltransferase activity			large_intestine(5)|lung(4)	9						CTTGTACGATCACACCACCAT	0.468000														87			10		0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079286	57079286	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:57079286G>A	uc003xsq.4	-	2	1470	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	PLAG1_uc003xsr.4_Missense_Mutation_p.S340L|PLAG1_uc010lyi.3_Missense_Mutation_p.S340L|PLAG1_uc010lyj.3_Missense_Mutation_p.S258L|PLAG1_uc022aur.1_Missense_Mutation_p.S258L	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	340	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			AATTGCATATGAGGTAGAACT	0.418000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									194			21		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10357980	10357980	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10357980C>T	uc002gmn.3	-	21	2694	c.2583G>A	c.(2581-2583)gaG>gaA	p.E861E	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	861					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						CTTTGGTTTTCTCAAATTCTT	0.438000														100			40		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234601708	234601708	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234601708C>T	uc002vuv.4	+	0	197	c.58C>T	c.(58-60)Ctt>Ttt	p.L20F	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Missense_Mutation_p.L20F	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	19					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CTTCTTAGCACTTTGGGGCAT	0.483000														87			24		0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68343463	68343463	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:68343463C>T	uc001onv.3	+	13	1764	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	PPP6R3_uc001onw.3_Silent_p.F499F|PPP6R3_uc001ony.4_Silent_p.F499F|PPP6R3_uc001onx.3_Silent_p.F499F|PPP6R3_uc009ysh.3_Silent_p.F448F|PPP6R3_uc001onu.3_Silent_p.F448F|PPP6R3_uc010rqc.2_Silent_p.F267F|PPP6R3_uc010rqd.2_Silent_p.F211F|PPP6R3_uc001onz.3_5'UTR	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	499					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGGAGACGTTCTGCACAAGCT	0.428000														104			46		0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65319621	65319621	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65319621G>A	uc001oej.3	-	7	1622	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	LTBP3_uc010roi.2_Silent_p.F334F|LTBP3_uc001oei.3_Silent_p.F451F|LTBP3_uc010roj.2_Silent_p.F152F|LTBP3_uc010rok.1_Silent_p.F362F|U7_uc021qll.1_5'Flank	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	451	TB 2.					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						AGATCTCCTTGAACGCAGCTG	0.557000											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		94			34		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772551	4772551	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:4772551C>T	uc001alm.1	+	1	1002	c.621C>T	c.(619-621)tcC>tcT	p.S207S	AJAP1_uc001aln.3_Silent_p.S207S	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	207	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCACGGTCTCCATCCTACAAA	0.637000														21			8		0	0	1	0	0
INS-IGF2	723961	broad.mit.edu	37	11	2170415	2170415	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:2170415G>A	uc001lvm.3	-	2	407	c.348C>T	c.(346-348)tcC>tcT	p.S116S	IGF2_uc001lvh.3_5'UTR|IGF2_uc001lvi.3_Non-coding_Transcript	NM_001042376	NP_001035835	Q1WM24	Q1WM24_HUMAN	Homo sapiens INS-IGF2 readthrough (INS-IGF2), transcript variant 2, mRNA.	116					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		AGAGGACCGGGGAGTCACTGG	0.602000														94			45		0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154271117	154271117	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:154271117G>A	uc003lvx.3	-	25	4029	c.3946C>T	c.(3946-3948)Cag>Tag	p.Q1316*	GEMIN5_uc011ddk.1_Nonsense_Mutation_p.Q1315*	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	1316					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTAACTGCTGGCTTGGCTCA	0.517000														85			56		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149512446	149512446	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149512446G>A	uc003lro.3	-	6	1463	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	PDGFRB_uc010jhd.3_Missense_Mutation_p.R171W|PDGFRB_uc011dcg.1_Silent_p.I330I	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	332	Ig-like C2-type 4.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.R332R(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCCGGCTCCGATGCAGCTCA	0.652000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									5			4		0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5853187	5853187	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:5853187G>A	uc003gis.3	-	4	919	c.830C>T	c.(829-831)tCc>tTc	p.S277F	CRMP1_uc003giq.3_Missense_Mutation_p.S163F|CRMP1_uc003gir.3_Missense_Mutation_p.S158F	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	163					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GACTTGGAAGGAATTGACGCC	0.438000														156			61		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3322099	3322099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3322099C>T	uc001akf.3	+	7	1155	c.1073C>T	c.(1072-1074)tCg>tTg	p.S358L	PRDM16_uc001ake.3_Missense_Mutation_p.S358L|PRDM16_uc009vlh.3_Missense_Mutation_p.S59L|PRDM16_uc001akc.3_Missense_Mutation_p.S358L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	358					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CACATCCGCTCGCAGCACGTG	0.682000			T	EVI1	"""MDS, AML"""									57			19		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187694567	187694567	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:187694567G>A	uc002upu.1	-	7	1022	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	328					apoptosis		zinc ion binding	p.L328I(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATCAGTTGGAGAGGCAGTGAT	0.393000														133			34		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43205702	43205702	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:43205702G>A	uc002lbe.3	+	2	1021	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	SLC14A2_uc002lbb.3_Missense_Mutation_p.E69K|SLC14A2_uc010dnj.3_Missense_Mutation_p.E69K	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	69						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAAGCTCAATGAAAGGAGTAA	0.498000														46			14		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11000810	11000810	+	Silent	SNP	C	T	T	rs141202424	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:11000810C>T	uc002daj.4	+	10	1597	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	CIITA_uc002dai.4_Silent_p.I487I|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Silent_p.I487I|CIITA_uc002dah.2_Silent_p.I439I|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	487	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCAGCCACATCTTGAAGAGAC	0.622000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									110			51		0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17892613	17892613	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17892613C>T	uc002nhg.3	+	22	2200	c.1921C>T	c.(1921-1923)Cgt>Tgt	p.R641C	FCHO1_uc010ebb.2_Missense_Mutation_p.R641C|FCHO1_uc002nhh.2_Missense_Mutation_p.R641C|FCHO1_uc010xpw.1_Missense_Mutation_p.R591C	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	641										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CGCCTACTTCCGTGGCCACAG	0.637000														64			36		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074292	106074292	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106074292G>A	uc001kyf.3	-	2	1971	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	ITPRIP_uc001kye.3_Silent_p.F506F|ITPRIP_uc001kyg.3_Silent_p.F506F|ITPRIP_uc021pxv.1_Silent_p.F506F	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	506						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCTGCAGGACGAAGGGCCGGA	0.587000														89			24		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28865888	28865888	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:28865888G>A	uc002rmb.2	+	57	4382	c.4338G>A	c.(4336-4338)agG>agA	p.R1446R	PLB1_uc010ezj.2_Silent_p.R1435R|PLB1_uc002rme.2_Silent_p.R411R	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1446					lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTGGCCGGAGGGAAGATCCTC	0.652000														6			6		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100197701	100197701	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100197701C>T	uc011kjz.1	+	8	1436	c.1368C>T	c.(1366-1368)caC>caT	p.H456H	FBXO24_uc003uvm.1_Silent_p.H418H|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Silent_p.H406H|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	418						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCCTCAACCACTCCCTGGTGC	0.692000														13			3		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784500	151784500	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:151784500C>T	uc003luv.2	-	0	341	c.175G>A	c.(175-177)Ggg>Agg	p.G59R		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	59					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CCAATGACCCCCACCACAAAA	0.577000														66			22		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12313762	12313762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:12313762C>T	uc001mkg.1	+	1	338	c.47C>T	c.(46-48)tCg>tTg	p.S16L		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	16	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.S16S(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cttccttcatcgtcttcccat	0.493000														44			15		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113955458	113955458	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113955458G>A	uc002tjc.3	+	13	2775	c.2592G>A	c.(2590-2592)acG>acA	p.T864T	PSD4_uc002tjd.3_Silent_p.T484T|PSD4_uc002tje.3_Silent_p.T834T|PSD4_uc002tjf.3_Silent_p.T485T|PSD4_uc002tjg.3_Silent_p.T30T|PSD4_uc010yxs.2_Silent_p.T94T|PSD4_uc002tjh.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	864	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCTGCGCACGGCTGACTGGC	0.657000														23			11		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143098600	143098600	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143098600G>A	uc003wcz.3	-	2	336	c.249C>T	c.(247-249)tcC>tcT	p.S83S		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	83						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGATCCAATTGGAGCGAAGCC	0.602000														219			61		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136536720	136536721	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:136536720_136536721CC>TT	uc004cep.4	-	17	2396_2397	c.2262_2263GG>AA	c.(2260-2265)gcgggt>gcAAgt	p.G755S	SARDH_uc004ceo.3_Missense_Mutation_p.G755S|SARDH_uc011mdo.2_Missense_Mutation_p.G587S|SARDH_uc011mdn.2_Missense_Mutation_p.G755S|SARDH_uc004cen.3_Missense_Mutation_p.G183S	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	755					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	p.A754T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGCTTGGCACCCGCGGCCATCA	0.663000														14			4		0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41099087	41099087	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41099087G>A	uc002oog.1	+	1	16	c.16_splice	c.e1+1	p.A6_splice		NM_003573	NP_003564	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 2, mRNA.	0					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGACGTAAAAGGTGAGTGCCT	0.428000														49			18		0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93016251	93016251	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:93016251G>A	uc002brc.1	+	1	915	c.443G>A	c.(442-444)gGa>gAa	p.G148E	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	148										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TTCAATTGCGGAAGCATAGAG	0.468000														78			73		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26482151	26482151	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:26482151G>A	uc001isn.2	+	31	4816	c.4456G>A	c.(4456-4458)Gag>Aag	p.E1486K	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1486					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.E1485D(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAAAGGAGAGGAGCCAAAAAT	0.353000														53			19		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53418996	53418997	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:53418996_53418997CC>TT	uc001vhi.3	-	2	3115_3116	c.2911_2912GG>AA	c.(2911-2913)ggg>AAg	p.G971K	PCDH8_uc001vhj.3_Missense_Mutation_p.G874K	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	971					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.G971W(4)|p.G971V(2)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TGCGTTGGGCCCGCTGCAGGAT	0.579000														39			10		0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93499834	93499834	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:93499834C>T	uc002bsp.3	+	15	2530	c.1955C>T	c.(1954-1956)tCc>tTc	p.S652F	CHD2_uc002bso.1_Missense_Mutation_p.S652F	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	652	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTTCAGAATTCCCTCAAAGAG	0.433000														138			47		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957581	49957581	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:49957581C>T	uc004dow.1	-	4	1907	c.1783G>A	c.(1783-1785)Gca>Aca	p.A595T	AKAP4_uc004dou.1_Missense_Mutation_p.A586T|AKAP4_uc004dov.1_Missense_Mutation_p.A212T|AKAP4_uc010njp.1_Missense_Mutation_p.A417T	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	595					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ACTGAAAGTGCTTTGGCACTT	0.468000														33			39		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79434686	79434686	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:79434686G>A	uc001xun.3	+	10	2511	c.2020G>A	c.(2020-2022)Gaa>Aaa	p.E674K	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.E799K	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCGTGGCTGTGAAGGTACAAC	0.517000														47			25		0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45410157	45410157	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:45410157G>A	uc001rok.1	-	3	1104	c.932C>T	c.(931-933)cCc>cTc	p.P311L		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	311						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P310P(1)|p.P311P(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		TGCTTCTGGGGGTGGTGCCCC	0.483000														57			27		0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101608265	101608265	+	Missense_Mutation	SNP	G	A	A	rs137917376		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:101608265G>A	uc004ayz.3	+	8	1465	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.	489	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TTAGTTTTTCGAGTACACGTC	0.478000														36			5		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32486707	32486707	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:32486707C>T	uc004dda.1	-	22	3314	c.3070G>A	c.(3070-3072)Gaa>Aaa	p.E1024K	DMD_uc004dcz.2_Missense_Mutation_p.E901K|DMD_uc004dcy.1_Missense_Mutation_p.E1020K|DMD_uc004ddb.1_Missense_Mutation_p.E1016K|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1024					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)				CCCTCAATTTCTTCAAATTCT	0.428000														11			18		0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184002751	184002751	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:184002751G>A	uc003fni.4	+	9	1398	c.1360_splice	c.e9-1	p.A454_splice	ECE2_uc011brh.1_Splice_Site_p.A307_splice|ECE2_uc003fnl.4_Splice_Site_p.A382_splice|ECE2_uc003fnm.4_Splice_Site_p.A336_splice|ECE2_uc003fnk.4_Splice_Site_p.A307_splice|ECE2_uc011bri.1_Splice_Site_p.A369_splice|ECE2_uc010hxv.3_Splice_Site_p.A98_splice	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	454	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTTCTTTCAGGCTCTGGCGCC	0.547000											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			16		0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52441424	52441424	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52441424C>T	uc003ddx.3	-	5	543	c.428G>A	c.(427-429)aGc>aAc	p.S143N	BAP1_uc010hmh.3_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	143					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCTGGCATGGCTATTATGGGC	0.537000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""								91			31		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56204425	56204425	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:56204425G>A	uc002lhj.4	-	4	3208	c.2994C>T	c.(2992-2994)tgC>tgT	p.C998C	ALPK2_uc002lhk.1_Silent_p.C329C	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	998							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCGCTTGAAAGCACTCATTAT	0.488000														68			46		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427724	119427724	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:119427724G>A	uc001ehl.1	-	7	1437	c.1122C>T	c.(1120-1122)gtC>gtT	p.V374V	TBX15_uc009whj.1_Silent_p.V198V	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	480						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCCTGCATGACATACTGAA	0.567000														28			12		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870387	4870387	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4870387G>A	uc010qyo.2	-	0	52	c.52C>T	c.(52-54)Ccc>Tcc	p.P18S		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGAAGGTGGGGGCCATTGAA	0.507000														77			36		0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108377998	108377998	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:108377998G>A	uc001kyl.3	-	20	3011	c.2829C>T	c.(2827-2829)ttC>ttT	p.F943F	SORCS1_uc021pxw.1_Silent_p.F943F|SORCS1_uc009xxs.3_Silent_p.F943F|SORCS1_uc001kym.3_Silent_p.F943F|SORCS1_uc001kyn.2_Silent_p.F943F|SORCS1_uc001kyo.3_Silent_p.F943F	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	943						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAGTAAATCTGAAGGATATGC	0.458000														64			18		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811000	123811000	+	Missense_Mutation	SNP	G	A	A	rs142766960		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123811000G>A	uc001pzk.1	+	0	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTCATGCTCCGAAGCCACTCA	0.507000														253			68		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73070485	73070485	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73070485C>T	uc004ebm.1	-	0		c.2104G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GGAGCACTGCCCATGGCAACA	0.652000														0			2		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062075	9062075	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9062075C>T	uc002mkp.3	-	2	25575	c.25371G>A	c.(25369-25371)agG>agA	p.R8457R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8459	Ser-rich.|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						TGGATGTTCCCCTAGAGGATA	0.512000														156			39		0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116198974	116198974	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:116198974C>T	uc021pyx.1	-	20	2202	c.2103G>A	c.(2101-2103)atG>atA	p.M701I	ABLIM1_uc021pyw.1_Missense_Mutation_p.G699R|ABLIM1_uc021pyy.1_Missense_Mutation_p.M666I|ABLIM1_uc021pyz.1_Missense_Mutation_p.G633R|ABLIM1_uc021pza.1_Missense_Mutation_p.M641I|ABLIM1_uc021pyv.1_Missense_Mutation_p.G369R|ABLIM1_uc021pyu.1_Missense_Mutation_p.M378I	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	701					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTCCTCGGTCCATTCTCATTG	0.473000														55			18		0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242755876	242755876	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242755876C>T	uc002wcp.2	+	1	728	c.234C>T	c.(232-234)tcC>tcT	p.S78S	NEU4_uc010fzr.3_Silent_p.S65S|NEU4_uc002wcm.3_Silent_p.S65S|NEU4_uc002wco.2_Silent_p.S65S|NEU4_uc002wcn.2_Silent_p.S77S	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	65						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CCGGGGGCTCCGTGCGGGTGA	0.746000														6			3		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150932882	150932882	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:150932882G>A	uc003lue.4	-	4	4025	c.4012C>T	c.(4012-4014)Cct>Tct	p.P1338S		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1338	Cadherin 11.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.P1338S(2)		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)			CGGGGCCAAGGGATCCACTCA	0.567000														50			14		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88420241	88420241	+	Silent	SNP	C	T	T	rs67229046		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:88420241C>T	uc002bme.2	-	19	2751	c.2445G>A	c.(2443-2445)ttG>ttA	p.L815L	NTRK3_uc002bmh.2_Silent_p.L793L|NTRK3_uc002bmf.2_Silent_p.L801L|NTRK3_uc021sua.1_Silent_p.L793L	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	815	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTTGATGTTCAACCGCTGCT	0.542000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				85			19		0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747534	68747534	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:68747534C>T	uc010rqf.2	-	0	922	c.922G>A	c.(922-924)Ggt>Agt	p.G308S		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	308						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTCTCCCCACCTTCCAGCTCG	0.672000														66			21		0	0	1	0	0
MIR518A1	574488	broad.mit.edu	37	19	54234287	54234287	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54234287C>T	uc021van.1	+	0		c.28C>T								Homo sapiens microRNA 518a-1 (MIR518A1), microRNA.																		AAAGGGAAGCCCTTTCTGTTG	0.433000														141			48		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111870807	111870807	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:111870807C>T	uc003dyu.3	-	27	3643	c.3421G>A	c.(3421-3423)Gga>Aga	p.G1141R	SLC9C1_uc011bhu.2_Missense_Mutation_p.G404R|SLC9C1_uc010hqc.3_Missense_Mutation_p.G1093R	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	1141					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CTGTGTGCTCCATCCTGGGAT	0.522000														40			26		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136562339	136562339	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136562339G>A	uc002tuu.1	-	9	4473	c.4462C>T	c.(4462-4464)Cag>Tag	p.Q1488*		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1488	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.Q1488Q(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CACCATACCTGGGGCTGGATG	0.547000														33			15		0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169623443	169623443	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:169623443C>T	uc003qwt.3	-	18	3149	c.2901G>A	c.(2899-2901)ttG>ttA	p.L967L		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	967	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CTTTGGGATCCAAGGGGACCA	0.498000														41			20		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561350	9561350	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9561350T>A	uc002wnl.2	-	4	977	c.432A>T	c.(430-432)gaA>gaT	p.E144D	PAK7_uc002wnk.2_Missense_Mutation_p.E144D|PAK7_uc002wnj.2_Missense_Mutation_p.E144D|PAK7_uc010gby.1_Missense_Mutation_p.E144D	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	144	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.E144K(1)|p.T143T(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCCTGTACTTTTCGGTCGTGT	0.512000														153			80		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64526872	64526872	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:64526872C>T	uc003dmg.3	-	35	5452	c.5420G>A	c.(5419-5421)gGg>gAg	p.G1807E	ADAMTS9_uc011bfo.2_Missense_Mutation_p.G1779E|ADAMTS9_uc011bfp.1_Missense_Mutation_p.G718E	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1807	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GCGCCGGCTCCCGTTATAGGG	0.478000														103			46		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152518823	152518823	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152518823C>T	uc021vrb.1	-	43	5825	c.5796G>A	c.(5794-5796)atG>atA	p.M1932I	NEB_uc002txu.3_Missense_Mutation_p.M1932I|NEB_uc021vrc.1_Missense_Mutation_p.M1932I|NEB_uc010fnx.3_Missense_Mutation_p.M1932I|NEB_uc021vrd.1_Missense_Mutation_p.M1932I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1932					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAATGCCCTTCATGAAGTCAG	0.433000														120			16		0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30899683	30899683	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:30899683G>C	uc003aid.2	-	1	211	c.111C>G	c.(109-111)ttC>ttG	p.F37L	SEC14L4_uc011akz.1_Missense_Mutation_p.F37L|SEC14L4_uc003aie.2_Missense_Mutation_p.S6C|SEC14L4_uc003aif.2_5'UTR	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	37						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AGCGCAGGAGGAAGTAGTCAT	0.612000														42			14		0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128454708	128454708	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128454708C>T	uc003vnv.2	+	14	3196	c.2780C>T	c.(2779-2781)aCc>aTc	p.T927I	CCDC136_uc003vnu.2_Intron|CCDC136_uc003vnx.2_Missense_Mutation_p.T743I|CCDC136_uc010llq.2_Missense_Mutation_p.T296I|CCDC136_uc003vny.2_Intron	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	927						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAACTGCAGACCAAGCTGCGG	0.587000														32			12		0	0	1	0	0
SOCS2	8835	broad.mit.edu	37	12	93968856	93968856	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:93968856C>T	uc001tcw.1	+	2	1088	c.498C>T	c.(496-498)ctC>ctT	p.L166L	SOCS2_uc021rbx.1_Silent_p.L166L|SOCS2_uc001tcy.1_Silent_p.L166L|SOCS2_uc001tcz.3_3'UTR	NM_003877	NP_003868	O14508	SOCS2_HUMAN	Homo sapiens suppressor of cytokine signaling 2 (SOCS2), mRNA.	166	SOCS box.				JAK-STAT cascade|anti-apoptosis|growth hormone receptor signaling pathway|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|growth hormone receptor binding|insulin-like growth factor receptor binding|prolactin receptor binding			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						TGCAGCATCTCTGTAGGCTCA	0.478000														47			28		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10080327	10080327	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10080327C>T	uc002mmq.1	-	55	4108	c.4022G>A	c.(4021-4023)aGg>aAg	p.R1341K		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1341	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)			TGGACCCGTCCTCCCTGGGGG	0.682000														17			6		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984115	85984115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:85984115G>A	uc010qmc.2	-	1	874	c.866C>T	c.(865-867)cCc>cTc	p.P289L	LRIT2_uc001kcy.3_Missense_Mutation_p.P289L	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	289	Ig-like.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CATACTCAGGGGATAAGTCCA	0.527000														40			19		0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219254613	219254613	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219254613C>T	uc002vhv.3	+	8	1156	c.816C>T	c.(814-816)gcC>gcT	p.A272A	SLC11A1_uc010fvp.1_Silent_p.A272A|SLC11A1_uc010fvq.1_Silent_p.A205A|SLC11A1_uc010zkc.1_Silent_p.A205A|SLC11A1_uc002vhu.1_Silent_p.A67A|SLC11A1_uc002vhw.3_Silent_p.A154A|SLC11A1_uc010fvr.3_Silent_p.A67A	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	272					L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGACCGGGCCCGCCGAGCAG	0.537000														26			15		0	0	1	0	0
KRT8	3856	broad.mit.edu	37	12	53298740	53298740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53298740G>A	uc009zmk.1	-	1	130	c.110C>T	c.(109-111)tCc>tTc	p.S37F	KRT8_uc001sbd.2_Missense_Mutation_p.S9F|KRT8_uc009zml.1_Missense_Mutation_p.S9F|KRT8_uc009zmm.1_Missense_Mutation_p.S9F	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	9	Head.|Ser-rich.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCTTGTAGGACTTCTGGGT	0.647000														17			10		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190423945	190423945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:190423945G>A	uc001gse.1	-	1	308	c.76C>T	c.(76-78)Cat>Tat	p.H26Y	FAM5C_uc010pot.1_5'UTR	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	26						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)					ACCCAGCAATGAAGACTCAGT	0.522000														45			16		0	0	1	0	0
CBLN4	140689	broad.mit.edu	37	20	54573724	54573724	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:54573724G>A	uc002xxa.3	-	2	1280	c.495C>T	c.(493-495)gtC>gtT	p.V165V		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	165	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			GGTAGAGCAGGACACCATTCG	0.423000														78			44		0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52579321	52579321	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52579321G>A	uc001rzw.3	-	0	213	c.162C>T	c.(160-162)ttC>ttT	p.F54F	KRT80_uc001rzy.3_Silent_p.F117F|KRT80_uc001rzx.3_Silent_p.F117F	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	205	Head.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GGCCCTGCAGGAAGCTCCAGC	0.637000														43			7		0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180846610	180846611	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:180846610_180846611GG>AA	uc010frh.1	-	4	620_621	c.320_321CC>TT	c.(319-321)tcc>tTT	p.S107F	CWC22_uc002unp.2_Missense_Mutation_p.S107F	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	Homo sapiens CWC22 spliceosome-associated protein homolog (S. cerevisiae) (CWC22), mRNA.	107						catalytic step 2 spliceosome	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CCTGAGCAGAGGAACTCTGAGT	0.470000														18			8		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140712539	140712539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140712539C>T	uc003lji.2	+	0	2288	c.2288C>T	c.(2287-2289)tCg>tTg	p.S763L	PCDHGC5_uc011dan.2_Missense_Mutation_p.S763L	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	768					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)			ACTGCGGACTCGCGGAAGAGC	0.592000														188			86		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155483	22155483	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22155483C>T	uc021urr.1	-	3	2502	c.2353G>A	c.(2353-2355)Gct>Act	p.A785T	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)				CGGTTAAAAGCTTTGCCACAT	0.363000														57			22		0	0	1	0	0
AK8	158067	broad.mit.edu	37	9	135698623	135698623	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135698623G>A	uc004cbu.1	-	8	1414	c.858C>T	c.(856-858)gcC>gcT	p.A286A	AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_Silent_p.A82A	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	Homo sapiens adenylate kinase 8 (AK8), mRNA.	286	Adenylate kinase.					cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						GGGCCAGGAGGGCGGCCTGCA	0.627000														104			61		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52509050	52509050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:52509050G>A	uc001vfw.2	-	20	4397	c.4240C>T	c.(4240-4242)Ccc>Tcc	p.P1414S	ATP7B_uc001vfy.2_Missense_Mutation_p.P1303S|ATP7B_uc010adv.2_Missense_Mutation_p.P984S|ATP7B_uc001vfx.2_Missense_Mutation_p.P1207S|ATP7B_uc010tgt.1_Missense_Mutation_p.P1349S|ATP7B_uc010tgu.1_Missense_Mutation_p.P1366S|ATP7B_uc010tgv.1_Missense_Mutation_p.P1336S|ATP7B_uc001vfv.2_Missense_Mutation_p.P686S|ATP7B_uc010tgs.1_Missense_Mutation_p.P625S	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	1414					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)		GTGGCCCTGGGGGAGTCCCGC	0.632000									Wilson disease					52			22		0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36933542	36933542	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:36933542G>A	uc001caw.2	-	13	2329	c.1745C>T	c.(1744-1746)tCc>tTc	p.S582F	CSF3R_uc001cav.2_Missense_Mutation_p.S582F|CSF3R_uc001cax.2_Missense_Mutation_p.S582F	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	582	Fibronectin type-III 5.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AAAGCCACGGGAGGAGGCATT	0.632000														55			10		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219894230	219894230	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219894230G>A	uc002vjl.1	-	10	1629	c.1545C>T	c.(1543-1545)gcC>gcT	p.A515A	CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Silent_p.A504A|CCDC108_uc010zkq.1_Silent_p.A450A	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	515						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTCCCAAAGGCAGGCCTGA	0.602000											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			9		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286549	152286549	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152286549C>T	uc001ezu.1	-	2	849	c.813G>A	c.(811-813)gtG>gtA	p.V271V	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	271	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCTGTTCACTTGAGATG	0.438000									Ichthyosis					309			27		0	0	1	0	0
C10orf128	170371	broad.mit.edu	37	10	50396355	50396355	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50396355C>T	uc010qgo.2	-	0	53	c.27G>A	c.(25-27)agG>agA	p.R9R	C10orf128_uc001jhn.4_Silent_p.R9R|C10orf128_uc001jho.4_Silent_p.R9R			Q5T292	CJ128_HUMAN	Homo sapiens chromosome 10 open reading frame 128 (C10orf128), mRNA.	9						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						GGAAGAGGATCCTCAGCATGC	0.647000														84			26		0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29787322	29787322	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29787322G>A	uc002kxj.4	+	7	702	c.655G>A	c.(655-657)Gga>Aga	p.G219R		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	219	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATTCCAAAATGGAACAGAGCC	0.393000														23			9		0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88702482	88702482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:88702482C>T	uc001kea.3	-	5	2186	c.2059G>A	c.(2059-2061)Gag>Aag	p.E687K	MMRN2_uc010qmn.2_Missense_Mutation_p.E330K|MMRN2_uc009xtb.2_Missense_Mutation_p.E644K	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	687						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GCGGCCTCCTCGCGGCCCGCG	0.771000														2			4		0	0	1	0	0
SLC46A3	283537	broad.mit.edu	37	13	29284912	29284912	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29284912G>A	uc001usj.3	-	3	1671	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	SLC46A3_uc001usg.3_Missense_Mutation_p.R302C|SLC46A3_uc001usi.3_Missense_Mutation_p.R377C|SLC46A3_uc001ush.3_Missense_Mutation_p.R377C|SLC46A3_uc001usk.3_3'UTR	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	377					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		TCAGTCGAACGAACCACTTTT	0.388000														95			31		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066278	73066278	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73066278G>A	uc004ebm.1	-	0		c.6311C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GATCCCAGACGATTATAATCA	0.488000														19			27		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30954258	30954258	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:30954258G>A	uc021vfn.1	-	19	1967	c.1935C>T	c.(1933-1935)ttC>ttT	p.F645F	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Silent_p.F641F	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	645	EF-hand 2.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGAGGTTGCGGAAGGTCTCTA	0.567000														10			8		0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33623339	33623339	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:33623339C>T	uc002nui.3	+	0	342	c.264C>T	c.(262-264)gaC>gaT	p.D88D		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	88										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GCGACCAGGACCCTCTCTCCA	0.652000														74			21		0	0	1	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287358	29287358	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29287358G>A	uc001usj.3	-	2	1061	c.519C>T	c.(517-519)gaC>gaT	p.D173D	SLC46A3_uc001usg.3_Silent_p.D98D|SLC46A3_uc001usi.3_Silent_p.D173D|SLC46A3_uc001ush.3_Silent_p.D173D|SLC46A3_uc001usk.3_Silent_p.D98D	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	173					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CAAGTAGAAAGTCAATGATAG	0.368000														47			27		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79092621	79092621	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:79092621G>A	uc002bej.4	-	1	580	c.369C>T	c.(367-369)gcC>gcT	p.A123A	ADAMTS7_uc010und.1_Silent_p.A123A|ADAMTS7_uc002bek.1_Silent_p.A123A	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	123					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCGGGGTGTGGGCCCGGATGT	0.731000														29			8		0	0	1	0	0
HLA-C	3107	broad.mit.edu	37	6	31322989	31322989	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31322989G>A	uc003nth.2	-	4	961	c.907C>T	c.(907-909)Cag>Tag	p.Q303*	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Nonsense_Mutation_p.Q182*|HLA-C_uc003nti.1_Intron	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	303	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						ACGGTGGACTGGGAAGACGGC	0.602000														55			24		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717183	222717183	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:222717183G>A	uc001hnh.1	-	1	728	c.670C>T	c.(670-672)Cat>Tat	p.H224Y		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	224					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCCCAGCATGGACCATGGAG	0.642000														39			26		0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66816097	66816097	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66816097G>A	uc009yrl.3	+	7	1365	c.1135G>A	c.(1135-1137)Ggc>Agc	p.G379S	SYT12_uc001oju.3_Missense_Mutation_p.G379S	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	379	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CAGCAGCGACGGCCGTGGGGA	0.627000														53			30		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515712	47515712	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47515712G>A	uc001cqt.3	+	11	1646	c.1396G>A	c.(1396-1398)Gta>Ata	p.V466I	CYP4X1_uc001cqr.3_Missense_Mutation_p.V465I|CYP4X1_uc001cqs.3_Missense_Mutation_p.V401I	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	466						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TGAGTTAAAGGTAACCATTGC	0.438000														120			55		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177041212	177041212	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:177041212G>A	uc003iuj.3	+	4	877	c.574G>A	c.(574-576)Ggt>Agt	p.G192S	WDR17_uc003ium.4_Missense_Mutation_p.G168S|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	192										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGTTGTGTTTGGTCATATTGA	0.323000														153			29		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53045554	53045554	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53045554C>T	uc001sat.3	-	0	406	c.373G>A	c.(373-375)Ggt>Agt	p.G125S		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	125	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		cccccaaaacctccaaagcgg	0.617000														29			9		0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112929053	112929053	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:112929053C>A	uc003kqn.3	+	28	4468	c.4266C>A	c.(4264-4266)ccC>ccA	p.P1422P		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	1422							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AACGTCTTCCCTTGGGAGAAA	0.368000														64			24		4.7796e-09	4.79532e-09	1	1	0
UPK3B	80761	broad.mit.edu	37	7	76140314	76140314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:76140314C>T	uc003ufq.3	+	0	570	c.345C>T	c.(343-345)ttC>ttT	p.F115F	UPK3B_uc003ufo.3_Silent_p.F60F|UPK3B_uc010ldk.1_Silent_p.F60F	NM_030570	NP_085047	Q9BT76	UPK3B_HUMAN	Homo sapiens uroplakin 3B (UPK3B), transcript variant 1, mRNA.	115					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GCTGTGTCTTCGATGGGCTTG	0.632000														4			5		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870251	36870251	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36870251G>A	uc002xhy.1	-	2	554	c.282C>T	c.(280-282)ccC>ccT	p.P94P	KIAA1755_uc002xhz.1_Silent_p.P94P	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	94										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GAGGGTTGAGGGGTGCCAAGT	0.572000														74			25		0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201316	24201316	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24201316G>A	uc021oij.1	-	0	792	c.792C>T	c.(790-792)ctC>ctT	p.L264L	CNR2_uc001bif.3_Silent_p.L264L	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	264					G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	TGTGGGCCATGAGGGCCAGCA	0.577000														68			8		0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068408	5068408	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5068408C>T	uc010qyv.2	+	0	653	c.653C>T	c.(652-654)tCg>tTg	p.S218L		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		ATTGGCATCTCGTATGTTTAC	0.453000														162			66		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112029769	112029769	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:112029769G>A	uc004bdz.1	-	3	812	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C	EPB41L4B_uc004bea.3_Missense_Mutation_p.R173C	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	173	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACTCCTCACGAAGGTTGTTT	0.443000														64			37		0	0	1	0	0
AES	166	broad.mit.edu	37	19	3055716	3055716	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3055716G>A	uc002lxb.1	-	4	483	c.444C>T	c.(442-444)atC>atT	p.I148I	AES_uc002lwx.1_3'UTR|AES_uc002lwy.1_Silent_p.I81I|AES_uc002lwz.1_Silent_p.I81I	NM_198969	NP_945320	Q08117	AES_HUMAN	Homo sapiens amino-terminal enhancer of split (AES), transcript variant 1, mRNA.	81	Gly/Pro-rich (GP domain).				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			lung(8)	8		Hepatocellular(1079;0.137)		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)		GCCTTTTGACGATCTCAGCCT	0.662000														88			31		0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47942791	47942791	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47942791C>T	uc003gxu.3	-	8	1001	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.R218Q	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	218					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	p.R218Q(1)|p.R287K(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TGTCCTTGTTCGTACAAACAT	0.294000														57			22		0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57713104	57713104	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:57713104C>T	uc002emh.3	+	4	611	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L	GPR97_uc010vhv.2_Silent_p.L50L|GPR97_uc010cdd.3_Non-coding_Transcript|GPR97_uc010cde.3_5'Flank	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	170					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCGGCTCGGCCTGGGAGATGG	0.627000														63			14		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546350	11546350	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:11546350G>A	uc010shk.1	-	2	697	c.662C>T	c.(661-663)cCa>cTa	p.P221L		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)			TGGTCCTTGTGGCTTTCCTGG	0.612000														314			39		0	0	1	0	0
FTSJD1	55783	broad.mit.edu	37	16	71319397	71319397	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71319397G>T	uc021tkr.1	-	0	427	c.427C>A	c.(427-429)Ctt>Att	p.L143I	FTSJD1_uc010cga.3_Missense_Mutation_p.L143I|FTSJD1_uc002ezy.4_Missense_Mutation_p.L143I|FTSJD1_uc002ezz.4_Missense_Mutation_p.L143I	NM_018348	NP_060818	Q8IYT2	FTSJ1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA.	143						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTTCACAAAGGTGTAGAGAA	0.413000														113			21		7.41877e-09	7.44212e-09	1	1	0
LGR4	55366	broad.mit.edu	37	11	27389935	27389935	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:27389935G>A	uc001mrj.4	-	17	2820	c.2335C>T	c.(2335-2337)Ccc>Tcc	p.P779S	LGR4_uc001mrk.4_Missense_Mutation_p.P755S	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	779						integral to membrane|plasma membrane	protein-hormone receptor activity	p.P779P(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ATTATTTCGGGGCTGATAGAG	0.403000														105			30		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662311	99662311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:99662311C>T	uc010nmz.3	-	0	2961	c.1285G>A	c.(1285-1287)Ggc>Agc	p.G429S	PCDH19_uc004efw.4_Missense_Mutation_p.G429S|PCDH19_uc004efx.4_Missense_Mutation_p.G429S	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	429	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ATGGGCACGCCGCCGTCGCGT	0.552000														69			12		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052376	44052376	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:44052376G>A	uc001jaw.4	-	1	1805	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	ZNF239_uc001jax.4_Silent_p.F384F|ZNF239_uc009xmj.3_Silent_p.F384F|ZNF239_uc009xmk.3_Silent_p.F384F|ZNF239_uc021pph.1_Silent_p.F384F	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	p.G383G(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGCTCTGGCTGAAACCCTTCC	0.527000														68			24		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113275932	113275932	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:113275932G>A	uc003ynu.3	-	60	9957	c.9798C>T	c.(9796-9798)tcC>tcT	p.S3266S	CSMD3_uc003yns.3_Silent_p.S2468S|CSMD3_uc003ynt.3_Silent_p.S3226S|CSMD3_uc011lhx.2_Silent_p.S3097S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3266	Sushi 25.					integral to membrane|plasma membrane				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						CAGCAGGGAAGGATAGCTCAT	0.453000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				48			18		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095473	167095473	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167095473G>A	uc001geb.1	+	4	1121	c.1105G>A	c.(1105-1107)Gga>Aga	p.G369R		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	369					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCCCCAGGATGGAGGTGGCTG	0.632000														6			3		0	0	1	0	0
FAM190A	401145	broad.mit.edu	37	4	91549184	91549184	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:91549184C>T	uc003hsv.4	+	5	2073	c.1733C>T	c.(1732-1734)tCc>tTc	p.S578F	FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.S578F	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	578										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						AGGAATCTTTCCCTGAAATTA	0.408000														48			18		0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21414770	21414770	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:21414770C>T	uc001iqm.3	-	1	501	c.450G>A	c.(448-450)ctG>ctA	p.L150L	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_3'UTR	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	150										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						AAGTCATTTTCAGCACCTTCT	0.393000														163			51		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47398567	47398567	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:47398567C>T	uc002leb.2	-	26	3861	c.3573G>A	c.(3571-3573)ccG>ccA	p.P1191P	MYO5B_uc002lea.2_Silent_p.P332P|Y_RNA_uc021uka.1_5'Flank	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1191					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.P1191P(2)|p.P1191Q(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GATCTGCATTCGGGTCCAAAT	0.507000														468			27		0	0	1	0	0
X06774	0	broad.mit.edu	37	7	38370174	38370174	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:38370174C>T	uc010kxj.1	-	1	260	c.124G>A	c.(124-126)Gat>Aat	p.D42N	X06774_uc010kxk.1_Non-coding_Transcript					Homo sapiens cDNA FLJ77147 complete cds, highly similar to Homo sapiens T cell receptor gamma variable 7, mRNA.																		ACAGGAAGATCACAAGTGATT	0.502000														67			35		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10106264	10106264	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10106264T>A	uc002mmq.1	-	15	1649	c.1563A>T	c.(1561-1563)ggA>ggT	p.G521G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	521	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)			GGCCAGGGGGTCCATGAGGTC	0.507000														37			14		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38937179	38937179	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38937179C>T	uc002oit.3	+	7	829	c.699C>T	c.(697-699)tcC>tcT	p.S233S	RYR1_uc002oiu.3_Silent_p.S233S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	233	MIR 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGACCATTTCCCCTGCTGACA	0.587000														75			26		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580505	140580505	+	Silent	SNP	G	A	A	rs57445845	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140580505G>A	uc003liy.3	+	0	1158	c.1158G>A	c.(1156-1158)ccG>ccA	p.P386P		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	386	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.P386L(1)		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)			GTTCCATTCCGGAAGACCTCC	0.448000														114			32		0	0	1	0	0
IGFL1	374918	broad.mit.edu	37	19	46733686	46733686	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46733686G>A	uc002pee.3	+	2	258	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_198541	NP_940943	Q6UW32	IGFL1_HUMAN	Homo sapiens IGF-like family member 1 (IGFL1), mRNA.	79						extracellular space	protein binding			lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		AGTCTGCTTTGAGCAGTGCTG	0.572000														125			32		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123038613	123038613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:123038613G>A	uc003egh.2	-	9	2164	c.2164C>T	c.(2164-2166)Cgt>Tgt	p.R722C	ADCY5_uc021xdd.1_Missense_Mutation_p.R372C|ADCY5_uc003egg.2_Missense_Mutation_p.R355C|ADCY5_uc003egi.1_Missense_Mutation_p.R281C	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	722					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding	p.R722H(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCAATGGCACGGCCCAGAAAC	0.592000														36			11		0	0	1	0	0
APOA2	336	broad.mit.edu	37	1	161193180	161193180	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161193180G>A	uc001fzc.1	-	1	70	c.12C>T	c.(10-12)ctC>ctT	p.L4L	APOA2_uc001fzb.1_Non-coding_Transcript|TOMM40L_uc010pkk.1_5'Flank|TOMM40L_uc010pkl.1_5'Flank|TOMM40L_uc001fzd.3_5'Flank|TOMM40L_uc009wue.3_5'Flank|TOMM40L_uc009wuf.2_5'Flank|TOMM40L_uc001fze.3_5'Flank	NM_001643	NP_001634	P02652	APOA2_HUMAN	Homo sapiens apolipoprotein A-II (APOA2), mRNA.	4					cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling	chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAGTTGCTGCGAGCAGCTTCA	0.572000														24			7		0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96123893	96123893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:96123893C>T	uc003hto.3	-	11	2478	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N	UNC5C_uc010ilc.2_Missense_Mutation_p.D728N	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	709	Interaction with DCC (By similarity).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTCAGGGCATCCTGGGTGTCA	0.597000														12			10		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152499804	152499804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152499804C>T	uc021vrb.1	-	55	8049	c.8020G>A	c.(8020-8022)Gag>Aag	p.E2674K	NEB_uc002txu.3_Missense_Mutation_p.E2674K|NEB_uc021vrc.1_Missense_Mutation_p.E2674K|NEB_uc010fnx.3_Missense_Mutation_p.E2674K|NEB_uc021vrd.1_Missense_Mutation_p.E2674K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2674					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTCATCCTCGAGAGAACCA	0.408000														77			24		0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548779	158548779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158548779C>T	uc010pin.2	-	0	911	c.911G>A	c.(910-912)aGc>aAc	p.S304N		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ATTCCTCAGGCTGAATATGAT	0.413000														126			60		0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79313613	79313613	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:79313613C>T	uc002sny.2	-	3	313	c.201G>A	c.(199-201)atG>atA	p.M67I	REG1B_uc010ffv.1_Missense_Mutation_p.M67I|REG1B_uc010ffw.3_3'UTR	NM_006507	NP_006498	P48304	REG1B_HUMAN	Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA.	67	C-type lectin.				cell proliferation	extracellular region	sugar binding	p.M67I(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TGCCTGAATTCATGTTCTGGC	0.498000														104			31		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169780186	169780186	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169780186C>T	uc002ueo.1	-	27	4038	c.3912G>A	c.(3910-3912)atG>atA	p.M1304I	ABCB11_uc010zda.1_Missense_Mutation_p.M722I|ABCB11_uc010zdb.1_Missense_Mutation_p.M780I	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1304	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTTTTTGGGCCATCAGTTCTT	0.512000														39			15		0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231249970	231249970	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:231249970G>A	uc010fxm.1	+	8	826	c.735G>A	c.(733-735)tcG>tcA	p.S245S	SP140L_uc010fxo.1_Silent_p.S52S	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	245						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AGCTGGTCTCGAGTGAAAAGA	0.458000														84			12		0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73490866	73490866	+	Silent	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:73490866A>C	uc001xnm.3	-	1	1072	c.351T>G	c.(349-351)ccT>ccG	p.P117P	ZFYVE1_uc010arj.3_Silent_p.P117P	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	Homo sapiens zinc finger, FYVE domain containing 1 (ZFYVE1), transcript variant 1, mRNA.	117						Golgi stack|endoplasmic reticulum|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		ACACAGTAACAGGGTGTCTCC	0.483000														236			94		0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64644340	64644340	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:64644340C>T	uc001dbj.2	+	8	3015	c.2616C>T	c.(2614-2616)ccC>ccT	p.P872P		NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	872	Ser/Thr-rich.				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						CTAGCTTGCCCTCATCAGGAT	0.507000														52			13		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30961728	30961728	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:30961728C>T	uc003tbv.2	+	1	542	c.432C>T	c.(430-432)atC>atT	p.I144I	FAM188B_uc011kac.1_Silent_p.I204I|FAM188B_uc010kwf.1_Silent_p.I61I|FAM188B_uc010kwh.1_Silent_p.I93I|FAM188B_uc022abh.1_Silent_p.I29I	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCGAGATCATCGGGACCCTCC	0.657000														67			16		0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10387029	10387029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10387029G>A	uc003wta.3	+	1	207	c.167G>A	c.(166-168)aGa>aAa	p.R56K	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.R56K|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	56					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TGTGGTGACAGATCTATTTTC	0.532000														124			42		0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116045904	116045904	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:116045904G>A	uc001lbl.1	+	10	1525	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	VWA2_uc001lbk.1_Missense_Mutation_p.D402N|VWA2_uc009xyf.1_Missense_Mutation_p.D98N	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	402	VWFA 2.					extracellular region				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)		GGAGTACCAGGATGTGCCTGA	0.682000														69			19		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017356	93017356	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:93017356C>T	uc022axs.1	-	5	1092	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	RUNX1T1_uc003yfc.2_Missense_Mutation_p.R216Q|RUNX1T1_uc010mam.3_Missense_Mutation_p.R216Q|RUNX1T1_uc003yfe.2_Missense_Mutation_p.R206Q|RUNX1T1_uc003yfd.3_Missense_Mutation_p.R243Q|RUNX1T1_uc022axo.1_Missense_Mutation_p.R243Q|RUNX1T1_uc010mao.3_Missense_Mutation_p.R216Q|RUNX1T1_uc011lgi.2_Missense_Mutation_p.R254Q|RUNX1T1_uc022axp.1_Missense_Mutation_p.R243Q|RUNX1T1_uc022axq.1_Missense_Mutation_p.R243Q|RUNX1T1_uc022axr.1_Missense_Mutation_p.R243Q|RUNX1T1_uc022axt.1_Missense_Mutation_p.R243Q|RUNX1T1_uc022axu.1_Missense_Mutation_p.R223Q|RUNX1T1_uc022axv.1_Missense_Mutation_p.R243Q|RUNX1T1_uc003yfb.2_Missense_Mutation_p.R206Q|RUNX1T1_uc003yff.1_Missense_Mutation_p.R206Q	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	243					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R206Q(1)|p.R254Q(1)|p.R243L(1)|p.R243Q(1)|p.R254L(1)|p.R206L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTCTGGAGTTCGCCTCTTCCC	0.522000														113			21		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685705	248685705	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248685705G>A	uc001ien.1	+	0	758	c.758G>A	c.(757-759)gGg>gAg	p.G253E		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTTTCTATGGGACCATCATA	0.438000														96			14		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564245	140564245	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140564245C>T	uc003liv.3	+	0	3266	c.2111C>T	c.(2110-2112)tCg>tTg	p.S704L	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	704					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTCTTTTCGGTGCTCCTG	0.697000														139			79		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042709	74042709	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74042709C>T	uc002sjr.1	+	2	1480	c.1359C>T	c.(1357-1359)ctC>ctT	p.L453L		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	453										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ATACTTACCTCCCCCCGATCT	0.463000														22			17		0	0	1	0	0
OR6B2	389090	broad.mit.edu	37	2	240969787	240969788	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:240969787_240969788GG>AA	uc010zoc.2	-	0	59_60	c.59_60CC>TT	c.(58-60)gcc>gTT	p.A20V	OR6B2_uc002vyr.3_Missense_Mutation_p.A20V	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GCAGCCCTGGGGCCGTGGGGAG	0.579000														58			6		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124395538	124395538	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124395538G>A	uc001lgk.1	+	49	6299	c.6193G>A	c.(6193-6195)Gaa>Aaa	p.E2065K	DMBT1_uc001lgl.1_Missense_Mutation_p.E2055K|DMBT1_uc001lgm.1_Missense_Mutation_p.E1437K|DMBT1_uc021qaf.1_Missense_Mutation_p.E2065K|DMBT1_uc021qag.1_Missense_Mutation_p.E2055K|DMBT1_uc021qah.1_Missense_Mutation_p.E1437K|DMBT1_uc009xzz.1_Missense_Mutation_p.E2064K|DMBT1_uc010qtx.1_Missense_Mutation_p.E785K|DMBT1_uc009yab.1_Missense_Mutation_p.E768K|DMBT1_uc009yac.1_Missense_Mutation_p.E359K	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2065	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGATTATATTGAAGTTTTCGA	0.507000														52			19		0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1119586	1119586	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:1119586G>A	uc002lrk.4	-	12	1540	c.1302C>T	c.(1300-1302)agC>agT	p.S434S	SBNO2_uc002lrj.4_Silent_p.S377S|SBNO2_uc010dse.3_Silent_p.S427S|SBNO2_uc010dsf.3_Silent_p.S377S	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	434					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		TACCCAAGCGGCTCATGTAGA	0.647000														14			6		0	0	1	0	0
PLIN1	5346	broad.mit.edu	37	15	90214766	90214766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90214766C>T	uc010upx.1	-	3	390	c.280G>A	c.(280-282)Ggc>Agc	p.G94S	PLIN1_uc002boh.2_Missense_Mutation_p.G94S	NM_001145311	NP_002657	O60240	PLIN1_HUMAN	Homo sapiens perilipin 1 (PLIN1), transcript variant 2, mRNA.	94					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						TGGTCCAAGCCTCGGCAGGCC	0.612000														2			7		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124355019	124355019	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124355019C>T	uc001uft.4	+	42	7297	c.7272C>T	c.(7270-7272)ttC>ttT	p.F2424F		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2424	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAGGAAATTCATCAACATCC	0.438000														29			9		0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18897384	18897384	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18897384C>T	uc002nke.3	-	10	1248	c.1212G>A	c.(1210-1212)ggG>ggA	p.G404G	COMP_uc002nkd.3_Silent_p.G371G|COMP_uc010xqj.2_Silent_p.G351G	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	404					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CACAGGCATCCCCTATACCAT	0.582000														54			14		0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179739455	179739455	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:179739455G>A	uc003mlw.1	-	14	1619	c.1521C>T	c.(1519-1521)atC>atT	p.I507I		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	507					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	p.E506D(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AGCCACGGATGATCTCTTGCC	0.433000														76			30		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566511	45566511	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:45566511C>T	uc010dnv.3	-	2	1470	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	ZBTB7C_uc002ldb.3_Missense_Mutation_p.G323E|ZBTB7C_uc010dnu.3_Missense_Mutation_p.G332E|ZBTB7C_uc010dnw.3_Missense_Mutation_p.G323E|ZBTB7C_uc010dnx.1_Missense_Mutation_p.G323E|ZBTB7C_uc010dny.1_Missense_Mutation_p.G323E|ZBTB7C_uc010dnz.1_Missense_Mutation_p.G345E|ZBTB7C_uc010doi.1_Missense_Mutation_p.G323E|ZBTB7C_uc010doj.1_Missense_Mutation_p.G332E|ZBTB7C_uc010dok.1_Missense_Mutation_p.G372E|ZBTB7C_uc010dol.1_Missense_Mutation_p.G332E|ZBTB7C_uc010doa.1_Missense_Mutation_p.G345E|ZBTB7C_uc010dob.1_Missense_Mutation_p.G323E|ZBTB7C_uc010doc.1_Missense_Mutation_p.G332E|ZBTB7C_uc010dod.1_Missense_Mutation_p.G345E|ZBTB7C_uc010doe.1_Missense_Mutation_p.G323E|ZBTB7C_uc010dof.1_Missense_Mutation_p.G323E|ZBTB7C_uc010dog.1_Missense_Mutation_p.G323E|ZBTB7C_uc010doh.1_Missense_Mutation_p.G332E|ZBTB7C_uc010dom.1_Missense_Mutation_p.G332E|ZBTB7C_uc010don.1_Missense_Mutation_p.G331E|ZBTB7C_uc010dop.1_Missense_Mutation_p.G323E|ZBTB7C_uc010doq.1_Missense_Mutation_p.G332E|ZBTB7C_uc010dor.1_Missense_Mutation_p.G345E|ZBTB7C_uc010dos.1_Missense_Mutation_p.G323E|ZBTB7C_uc010dot.1_Missense_Mutation_p.G323E|ZBTB7C_uc010doo.1_Missense_Mutation_p.G323E|ZBTB7C_uc010dou.1_Missense_Mutation_p.G332E	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	323						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CTTGATGGGTCCCAGAGGCCC	0.632000														71			29		0	0	1	0	0
CASP10	843	broad.mit.edu	37	2	202052442	202052442	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:202052442G>A	uc002uxj.1	+	2	779	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	CASP10_uc002uxi.1_Missense_Mutation_p.E121K|CASP10_uc010zhn.1_Intron|CASP10_uc010ftb.2_Missense_Mutation_p.E121K|CASP10_uc010fta.1_Missense_Mutation_p.E121K|CASP10_uc002uxk.1_Missense_Mutation_p.E121K|CASP10_uc002uxl.2_Missense_Mutation_p.E121K|CASP10_uc002uxm.2_Missense_Mutation_p.E121K	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	121	DED 2.				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CCTGCTCTACGAACTGTCAGA	0.403000														95			34		0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100890474	100890474	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:100890474C>T	uc004aym.3	-	9	1265	c.1149G>A	c.(1147-1149)gaG>gaA	p.E383E	CORO2A_uc004ayl.3_Silent_p.E383E|CORO2A_uc004ayk.3_5'Flank	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	383					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CGCTGAGCCACTCCTGGGCCG	0.592000														271			96		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745185	140745185	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140745185C>T	uc003lju.2	+	0	1288	c.1288C>T	c.(1288-1290)Ccg>Tcg	p.P430S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.P430S	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	432	Cadherin 4.				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)			CCATGGAACCCCGCCCCTCTC	0.458000														115			45		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067679	9067679	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9067679G>A	uc002mkp.3	-	2	19971	c.19767C>T	c.(19765-19767)tcC>tcT	p.S6589S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6591	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						CTATGTTTGTGGAAGGATACA	0.453000														111			48		0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165503967	165503968	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:165503967_165503968CC>TT	uc003fem.4	-	2	1809_1810	c.1649_1650GG>AA	c.(1648-1650)tgg>tAA	p.W550*	BCHE_uc003fen.4_Non-coding_Transcript	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	550					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.W550R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AAAATGATGTCCAGAATCGACA	0.351000														67			10		0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10476376	10476376	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10476376G>A	uc002moc.4	-	6	1206	c.828C>T	c.(826-828)ccC>ccT	p.P276P	TYK2_uc010dxe.3_Silent_p.P91P|TYK2_uc002mod.2_Silent_p.P276P	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	276	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.P276P(2)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGTGGCACACGGGCACACGCT	0.677000														22			8		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83348509	83348509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83348509G>A	uc010uoi.2	-	9	1331	c.1154C>T	c.(1153-1155)aCc>aTc	p.T385I	AP3B2_uc010uoh.2_Missense_Mutation_p.T385I|AP3B2_uc010uoj.2_Missense_Mutation_p.T353I|AP3B2_uc010uog.2_Missense_Mutation_p.T21I	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	385					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGTGGGGTCGGTGGACCTGAT	0.577000														48			29		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282107	52282107	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52282107G>A	uc001rzd.3	+	0	315	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	ANKRD33_uc001rzh.4_Missense_Mutation_p.R46Q|ANKRD33_uc001rzf.4_5'UTR|ANKRD33_uc001rze.3_5'UTR|ANKRD33_uc001rzg.4_5'UTR|ANKRD33_uc001rzi.4_5'UTR	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GATACCCTACGAACCCCAAGT	0.592000														44			18		0	0	1	0	0
SMCP	4184	broad.mit.edu	37	1	152856947	152856947	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152856947C>T	uc021ozk.1	+	0	49	c.49C>T	c.(49-51)Caa>Taa	p.Q17*	SMCP_uc001fat.3_Nonsense_Mutation_p.Q17*	NM_030663	NP_109588	P49901	MCSP_HUMAN	Homo sapiens sperm mitochondria-associated cysteine-rich protein (SMCP), nuclear gene encoding mitochondrial protein, mRNA.	17	7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida|sperm motility	mitochondrial membrane				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAAGGCAATCAATGCTGCCC	0.458000														95			16		0	0	1	0	0
C19orf55	148137	broad.mit.edu	37	19	36255778	36255778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36255778C>T	uc021usz.1	+	5	640	c.567C>T	c.(565-567)tcC>tcT	p.S189S		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	189										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAACTCATCCCTGCTGGACC	0.627000														32			8		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70048889	70048889	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70048889G>A	uc001svg.3	-	9	2032	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.S389F|BEST3_uc010stm.2_Missense_Mutation_p.S496F	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	602						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTTTCCCAGGGAAGTGTGGCT	0.498000														37			24		0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38565541	38565541	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38565541C>T	uc003cih.2	+	5	891	c.795C>T	c.(793-795)ttC>ttT	p.F265F	EXOG_uc010hhg.3_Non-coding_Transcript|EXOG_uc010hhf.2_Silent_p.F125F|EXOG_uc003cii.2_Silent_p.F125F|EXOG_uc011ayq.1_Silent_p.F215F|EXOG_uc003cij.2_Silent_p.F125F|EXOG_uc010hhd.2_Silent_p.F125F|EXOG_uc010hhe.2_Silent_p.F125F|EXOG_uc003cik.2_Silent_p.F125F	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	Homo sapiens endo/exonuclease (5'-3'), endonuclease G-like (EXOG), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	265						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TAACTGAATTCCAAGTGAGCC	0.512000														111			24		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7976593	7976593	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7976593C>T	uc002gjy.1	-	13	2060	c.1799G>A	c.(1798-1800)cGg>cAg	p.R600Q		NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	600	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CGGTGGATTCCGCATGGACGC	0.587000										Multiple Myeloma(8;0.094)				129			89		0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49869412	49869412	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49869412G>A	uc003cxs.1	-	10	1080	c.974C>T	c.(973-975)cCc>cTc	p.P325L	TRAIP_uc010hla.1_Missense_Mutation_p.P226L	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	325	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCGGGCTGGGGGAGTATCCAC	0.547000														67			29		0	0	1	0	0
ZDHHC8P1	150244	broad.mit.edu	37	22	23742556	23742556	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:23742556G>A	uc002zxa.4	-	2		c.580C>T			ZDHHC8P1_uc002zxb.4_Non-coding_Transcript|ZDHHC8P1_uc002zwz.4_Non-coding_Transcript					Homo sapiens zinc finger, DHHC-type containing 8 pseudogene 1 (ZDHHC8P1), non-coding RNA.																		AGGGGCTGCAGGGCCACGTAG	0.642000														15			7		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296056	20296056	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20296056T>C	uc010tkv.2	+	0	449	c.449T>C	c.(448-450)cTt>cCt	p.L150P		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTCTGTGGCTTGGGGGTTTT	0.532000														153			73		0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33877622	33877622	+	Silent	SNP	C	G	G	rs143026467		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:33877622C>G	uc003cfx.3	+	7	1076	c.921C>G	c.(919-921)gcC>gcG	p.A307A	PDCD6IP_uc003cfy.3_Silent_p.A312A|PDCD6IP_uc011axw.2_Silent_p.A88A	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	Homo sapiens programmed cell death 6 interacting protein (PDCD6IP), transcript variant 1, mRNA.	307	BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCAATCGTGCCCTTGCTGCAG	0.373000														145			63		0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55065679	55065679	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55065679G>A	uc021qjb.1	-	0		c.30C>T			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		ACTGGGTCTAGGAAGTAGTTC	0.473000														93			49		0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32476018	32476018	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:32476018G>A	uc002roi.3	-	3	1176	c.915C>T	c.(913-915)gcC>gcT	p.A305A	NLRC4_uc021vfq.1_Silent_p.A305A|NLRC4_uc002roj.2_Silent_p.A305A|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	305	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			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)					TGAGAGCCTGGGCGCTGTCTT	0.532000														77			34		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55223733	55223733	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55223733G>A	uc003pcm.1	+	5	835	c.749G>A	c.(748-750)aGa>aAa	p.R250K		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	250						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CGTGTGACTAGAAAGTGCCAT	0.378000														73			31		0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42992800	42992800	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:42992800C>T	uc021tyh.1	-	0	121	c.55G>A	c.(55-57)Gag>Aag	p.E19K	GFAP_uc002ihq.3_Missense_Mutation_p.E19K|GFAP_uc002ihr.3_Missense_Mutation_p.E19K|GFAP_uc010wjg.2_Non-coding_Transcript	NM_001242376	NP_001229305	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA.	19	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ACCATCATCTCCCCTGAGGAG	0.667000														9			6		0	0	1	0	0
SLC30A2	7780	broad.mit.edu	37	1	26365705	26365705	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26365705C>T	uc001blg.1	-	7	1282	c.1065G>A	c.(1063-1065)gaG>gaA	p.E355E	SLC30A2_uc001blh.1_Silent_p.E306E	NM_001004434	NP_001004434	Q9BRI3	ZNT2_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 2 (SLC30A2), transcript variant 1, mRNA.	306					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CCGAGTAGTCCTCGATCTGGA	0.612000														35			4		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219874711	219874711	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219874711C>T	uc002vjl.1	-	26	4489	c.4405G>A	c.(4405-4407)Gag>Aag	p.E1469K		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1469						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAATTTCCTCGTTCTTGGAG	0.532000														48			11		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35756549	35756549	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:35756549C>T	uc021rid.1	+	28	5249	c.4715C>T	c.(4714-4716)tCg>tTg	p.S1572L	NBEA_uc021ric.1_Missense_Mutation_p.S1569L|NBEA_uc010abi.3_Missense_Mutation_p.S260L	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1572						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)		TACTTCATTTCGGTTCTGATG	0.373000														98			29		0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101117834	101117834	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:101117834G>A	uc003dut.3	-	5	659	c.548C>T	c.(547-549)cCa>cTa	p.P183L	SENP7_uc003duu.3_Intron|SENP7_uc003duv.3_Missense_Mutation_p.P150L|SENP7_uc003duw.3_Missense_Mutation_p.P117L|SENP7_uc003dux.3_Intron	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	183					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGTTACAGGTGGGGTCCTTAT	0.403000														75			33		0	0	1	0	0
immunoglobulin_heavy_chain	0	broad.mit.edu	37	14	107034732	107034732	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:107034732C>T	uc001ysz.3	-	1	377	c.348G>A	c.(346-348)gcG>gcA	p.A116A	abParts_uc021ser.1_Non-coding_Transcript					Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene.																		CTGTGTGTCTCGCACAGTAAT	0.597000														160			17		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25416232	25416232	+	Missense_Mutation	SNP	C	T	T	rs140457030		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25416232C>T	uc001upr.3	+	18	2577	c.2536C>T	c.(2536-2538)Cct>Tct	p.P846S	RNF17_uc010tdd.1_Missense_Mutation_p.P705S|RNF17_uc010tde.2_Missense_Mutation_p.P846S|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.P785S|RNF17_uc010aac.3_Missense_Mutation_p.P44S|RNF17_uc010aad.3_5'Flank	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	846					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)		TCTTGGTGCTCCTGAAATGAC	0.343000														64			22		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11218112	11218112	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11218112G>A	uc002mqk.4	+	5	1049	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	LDLR_uc010xlk.2_Missense_Mutation_p.E288K|LDLR_uc010xll.2_Missense_Mutation_p.E247K|LDLR_uc021upc.1_Missense_Mutation_p.E167K|LDLR_uc010xln.2_Missense_Mutation_p.E161K|LDLR_uc010xlo.2_Missense_Mutation_p.E120K|LDLR_uc010xlm.2_Missense_Mutation_p.E141K|LDLR_uc021upd.1_Missense_Mutation_p.E25K	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	288	LDL-receptor class A 7.		E -> K (in FH; German patient).		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.?(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)	TCACAGCGGCGAATGCATCAC	0.562000														52			11		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827110	96827110	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96827110G>A	uc001kkb.3	-	2	431	c.336C>T	c.(334-336)atC>atT	p.I112I	CYP2C8_uc010qoa.2_Silent_p.I42I|CYP2C8_uc010qoc.2_Silent_p.I10I|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Silent_p.I26I|CYP2C8_uc021pwl.1_Silent_p.I42I|CYP2C8_uc010qod.1_Silent_p.I26I	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	112					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TGCTGGAAATGATTCCTAATA	0.488000														51			17		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488296	108488296	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:108488296G>A	uc010ywk.2	+	19	3918	c.3836G>A	c.(3835-3837)aGa>aAa	p.R1279K	RGPD4_uc002tdu.3_Missense_Mutation_p.R466K|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1279					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGCCCTGTGAGAAAAAATCTT	0.393000														338			122		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228309	142228309	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:142228309G>A	uc003ywd.1	-	3	1585	c.1277C>T	c.(1276-1278)aCc>aTc	p.T426I	SLC45A4_uc003ywc.1_Missense_Mutation_p.T426I|SLC45A4_uc010meq.1_Missense_Mutation_p.T424I	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	477					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCTGGAGGTGGTGGCCCCGCT	0.677000														29			6		0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86542418	86542418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:86542418C>T	uc011kha.2	-	13	2019	c.1834G>A	c.(1834-1836)Gaa>Aaa	p.E612K	KIAA1324L_uc003uie.3_Missense_Mutation_p.E445K|KIAA1324L_uc011kgz.2_Missense_Mutation_p.E498K|KIAA1324L_uc003uif.2_Missense_Mutation_p.E364K	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	612						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCCGACTGTTCAGAACCGAGG	0.517000														58			12		0	0	1	0	0
CDC123	8872	broad.mit.edu	37	10	12279228	12279228	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:12279228C>T	uc001ill.3	+	8	935	c.651C>T	c.(649-651)ttC>ttT	p.F217F		NM_006023	NP_006014	O75794	CD123_HUMAN	Homo sapiens cell division cycle 123 homolog (S. cerevisiae) (CDC123), mRNA.	217					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm		p.F217L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						AAGACTTTTTCAAGAAACACA	0.289000														67			28		0	0	1	0	0
ZNF192	7745	broad.mit.edu	37	6	28120072	28120072	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28120072C>T	uc003nkn.1	+	4	869	c.685C>T	c.(685-687)Ctt>Ttt	p.L229F	ZNF192_uc010jqx.1_Missense_Mutation_p.L229F|ZNF192_uc010jqy.1_Missense_Mutation_p.L42F|ZNF192_uc011dkz.1_Missense_Mutation_p.L42F	NM_006298	NP_006289	Q15776	ZN192_HUMAN	Homo sapiens zinc finger protein 192 (ZNF192), mRNA.	229	KRAB.				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGCTGTGTCCCTTATTCGAGA	0.453000														147			36		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32138307	32138307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:32138307C>T	uc001rks.3	+	3	4832	c.4418C>T	c.(4417-4419)cCa>cTa	p.P1473L		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1473										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AAAAACGTGCCATGTGATTCT	0.398000														80			36		0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178879114	178879114	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:178879114C>T	uc002ulq.3	-	1	1304	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	PDE11A_uc002ulr.3_Missense_Mutation_p.R79Q|PDE11A_uc002ult.1_Missense_Mutation_p.R79Q	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	329	GAF 1.				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)			ATCACTGCTTCGGATAGGCAT	0.373000									Primary Pigmented Nodular Adrenocortical Disease, Familial					103			26		0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23318846	23318846	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:23318846G>A	uc002nrb.1	+	3		c.425_splice	c.e3+1							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						AAACCCCCAGGTAGGTGACAG	0.363000														100			30		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282435	52282435	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52282435G>A	uc001rzd.3	+	1	407	c.229G>A	c.(229-231)Gac>Aac	p.D77N	ANKRD33_uc001rzh.4_Missense_Mutation_p.D77N|ANKRD33_uc001rzf.4_5'UTR|ANKRD33_uc001rze.3_5'UTR|ANKRD33_uc001rzg.4_5'UTR|ANKRD33_uc001rzi.4_5'UTR	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GAGACGGCTGGACATGTCTGA	0.597000														80			9		0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1634338	1634338	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1634338G>A	uc002cmb.3	-	10	1601	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	IFT140_uc002clz.3_Silent_p.F64F	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	413										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CTTGCTGGTGGAAGTGTGACG	0.607000														13			6		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561305	44561305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:44561305C>T	uc002lcr.1	-	0	684	c.331G>A	c.(331-333)Ggc>Agc	p.G111S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	111					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCTGGGAAGCCCCAGGCCTTT	0.662000														94			34		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974178	35974178	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:35974178C>T	uc004ddj.3	+	7	1341	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	425										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AACCTTGTTTCATGGGTGAAC	0.363000														59			36		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38951115	38951115	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38951115C>T	uc002oit.3	+	19	2591	c.2461C>T	c.(2461-2463)Cat>Tat	p.H821Y	RYR1_uc002oiu.3_Missense_Mutation_p.H821Y	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	821					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGAGCGACTCCATCTTGAACC	0.647000														120			40		0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11319416	11319416	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11319416G>A	uc002mqs.4	-	38	5075	c.5034C>T	c.(5032-5034)ttC>ttT	p.F1678F	DOCK6_uc002mqr.4_Silent_p.F76F|DOCK6_uc010xlq.2_Silent_p.F1017F	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1678	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCAGCTCAGTGAAGTGCTTCC	0.642000														44			18		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54802530	54802530	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54802530G>A	uc002qfd.3	-	4	1003	c.911C>T	c.(910-912)tCc>tTc	p.S304F	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Missense_Mutation_p.S240F	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	303	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCACTCGGAGGAGAGGTTGTA	0.677000														74			27		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88853988	88853989	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:88853988_88853989GG>AA	uc010kbz.3	-	1	1135_1136	c.1005_1006CC>TT	c.(1003-1008)gcccgc>gcTTgc	p.R336C	CNR1_uc011dzr.2_Missense_Mutation_p.R336C|CNR1_uc011dzs.2_Missense_Mutation_p.R336C|CNR1_uc003pmq.4_Missense_Mutation_p.R336C|CNR1_uc011dzt.2_Missense_Mutation_p.R336C|CNR1_uc010kca.3_Missense_Mutation_p.R303C|CNR1_uc021zco.1_Missense_Mutation_p.R336C	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	336					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.R336H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ATGTCCATGCGGGCTTGGTCTG	0.564000														67			44		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88476386	88476386	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:88476386C>T	uc002bme.2	-	15	2052	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R	NTRK3_uc002bmh.2_Silent_p.R574R|NTRK3_uc002bmf.2_Silent_p.R582R|NTRK3_uc021sua.1_Silent_p.R574R|NTRK3_uc010upl.1_Silent_p.R484R|NTRK3_uc010bnh.1_Silent_p.R574R	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	582	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGAAATCCTTCCGGGCAGCCA	0.567000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				49			51		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134992588	134992588	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:134992588C>T	uc004ezh.3	+	15	2046	c.1879C>T	c.(1879-1881)Cac>Tac	p.H627Y	SAGE1_uc010nry.1_Missense_Mutation_p.H596Y|SAGE1_uc011mvv.2_Missense_Mutation_p.H251Y	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	627										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGCAGTCACTCACAACATCCG	0.483000														51			27		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120369297	120369297	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:120369297G>A	uc002tmb.3	+	13	1544	c.432G>A	c.(430-432)cgG>cgA	p.R144R	PCDP1_uc010yyq.2_Silent_p.R274R	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	430						cilium	calmodulin binding					Colorectal(110;0.196)					GCCATAAACGGGTTGTTCGCA	0.328000														71			13		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22712610	22712610	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22712610C>T	uc021wml.1	+	44		c.5022_splice	c.e44+1							Parts of antibodies, mostly variable regions.																		CTGAGTGGTCCCACAGTGCTC	0.637000														176			19		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73489018	73489018	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73489018C>T	uc010wsa.2	+	14	2143	c.1951C>T	c.(1951-1953)Cct>Tct	p.P651S	KIAA0195_uc002jnz.4_Missense_Mutation_p.P641S|KIAA0195_uc010wsb.2_Missense_Mutation_p.P281S|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	641					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGCTTCACTCCTGGGGCCAA	0.607000														130			47		0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49668450	49668450	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:49668450C>T	uc003ozn.2	-	4	350	c.114G>A	c.(112-114)agG>agA	p.R38R	CRISP2_uc003ozr.2_Silent_p.R38R|CRISP2_uc003ozo.2_Silent_p.R38R|CRISP2_uc003ozm.2_Silent_p.R38R|CRISP2_uc003ozp.2_Silent_p.R38R|CRISP2_uc003ozq.2_Silent_p.R38R|CRISP2_uc003ozl.2_Silent_p.R38R	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	38						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTACAATCTCCCTTTGCACTT	0.363000														88			25		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134621897	134621897	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:134621897G>A	uc021qbc.1	-	58	8278	c.8177_splice	c.e58+1			NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.											breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CACAGAGACTGGCTTTTGTTG	0.557000														182			63		0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67303082	67303082	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:67303082A>T	uc002jif.2	-	4	1790	c.572T>A	c.(571-573)gTt>gAt	p.V191D	ABCA5_uc002jig.2_Missense_Mutation_p.V191D|ABCA5_uc002jih.2_Missense_Mutation_p.V191D|ABCA5_uc010dfe.2_Missense_Mutation_p.V191D	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	191					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CCAAAGAGAAACATTGGTCTT	0.343000														87			41		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145111880	145111880	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145111880C>T	uc003zar.3	-	11	1759	c.1677G>A	c.(1675-1677)gtG>gtA	p.V559V	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	559							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCAGAGCATCCACACACTGCT	0.652000														7			3		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202266700	202266700	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:202266700G>A	uc001gxu.3	+	6	781	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	LGR6_uc001gxv.3_Missense_Mutation_p.E209K|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.E122K|LGR6_uc009xac.1_Non-coding_Transcript	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	261						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CAGACTGCAGGAACTGTAAGC	0.557000														81			30		0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159165961	159165961	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:159165961G>A	uc002tzq.3	-	8	1408	c.1094C>T	c.(1093-1095)gCt>gTt	p.A365V	CCDC148_uc002tzr.3_Missense_Mutation_p.A213V|CCDC148_uc010foh.3_Missense_Mutation_p.A78V|CCDC148_uc010fok.2_Missense_Mutation_p.A279V|CCDC148_uc010foi.2_Missense_Mutation_p.A312V|CCDC148_uc010foj.2_Missense_Mutation_p.A213V	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	365										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTTCAGATCAGCACACAATTC	0.403000														60			25		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6239815	6239815	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:6239815C>T	uc002kmz.4	-	8	769	c.609G>A	c.(607-609)agG>agA	p.R203R	L3MBTL4_uc002kmy.4_Silent_p.R203R|L3MBTL4_uc010dkt.3_Silent_p.R203R	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	203					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				AAGGGTTCTTCCTGTCCACGG	0.463000														68			24		0	0	1	0	0
IL6	3569	broad.mit.edu	37	7	22767223	22767223	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:22767223C>T	uc003svj.4	+	1	296	c.180C>T	c.(178-180)atC>atT	p.I60I	LOC541472_uc010kun.2_Non-coding_Transcript|IL6_uc011jyo.1_Silent_p.I60I|IL6_uc011jyp.1_Intron|IL6_uc011jyq.1_Silent_p.I114I	NM_000600	NP_000591	P05231	IL6_HUMAN	Homo sapiens interleukin 6 (interferon, beta 2) (IL6), mRNA.	60					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of B cell activation|positive regulation of T cell proliferation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	TTCGGTACATCCTCGACGGCA	0.592000														55			23		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394679	164394679	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:164394679C>T	uc003iqp.4	-	0	369	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	70						cytoplasm	metal ion binding|transketolase activity	p.N69K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGAACCGGTCGTTGTCCGGG	0.552000														31			9		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101092443	101092443	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:101092443C>T	uc003yjb.1	-	3	453	c.258G>A	c.(256-258)agG>agA	p.R86R	RGS22_uc003yja.1_5'UTR|RGS22_uc003yjc.1_Silent_p.R86R|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_5'UTR	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	86				Missing (in Ref. 1; AAH92411).	negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCTTTCCTTTCCTTACAACAT	0.338000														74			35		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47432807	47432807	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:47432807C>T	uc002leb.2	-	18	2684	c.2396G>A	c.(2395-2397)cGg>cAg	p.R799Q		NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	799	IQ 2.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.R799W(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAGGTGTCCCCGGCAGTACCT	0.582000														51			7		0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770263	53770263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53770263C>T	uc010ydu.2	-	0	656	c.656G>A	c.(655-657)aGc>aAc	p.S219N		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	219					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GGAGAGATTGCTCCTATCAAT	0.547000										HNSCC(26;0.072)				26			9		0	0	1	0	0
CIB4	130106	broad.mit.edu	37	2	26806663	26806663	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:26806663C>T	uc002rhm.3	-	4	461	c.432G>A	c.(430-432)acG>acA	p.T144T		NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN	Homo sapiens calcium and integrin binding family member 4 (CIB4), mRNA.	144	EF-hand 3.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACGTGGTTCGTGAGGTCCA	0.582000														76			15		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55177268	55177268	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55177268C>T	uc002qgp.3	+	6	1122	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	LILRB4_uc002qgq.3_Silent_p.L254L|LILRB4_uc010ert.3_Silent_p.L295L|LILRB4_uc010eru.3_Silent_p.L283L	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.	254						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)		CGCCCAAGGTCTGAGAAGGCA	0.537000														10			4		0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15234287	15234287	+	Missense_Mutation	SNP	G	A	A	rs34470764		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15234287G>A	uc002nam.3	-	2	357	c.236C>T	c.(235-237)tCc>tTc	p.S79F	ILVBL_uc010dzx.1_Missense_Mutation_p.S79F	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	Homo sapiens ilvB (bacterial acetolactate synthase)-like (ILVBL), mRNA.	79						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CAGCAGCGGGGAAATGTGCCC	0.637000														67			28		0	0	1	0	0
ALG8	79053	broad.mit.edu	37	11	77812146	77812146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:77812146G>A	uc001oza.1	-	12	1510	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	ALG8_uc001oyz.1_3'UTR	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	Homo sapiens asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG8), transcript variant 1, mRNA.	482					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			CACCTTCCAGGAGGTGAAAGG	0.423000														89			28		0	0	1	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356906	104356906	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104356906C>T	uc004bbr.3	-	0	378	c.307G>A	c.(307-309)Gac>Aac	p.D103N	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	100	EF-hand 3.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	TTATCCATGTCGTAAATGCTG	0.532000														114			29		0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54140039	54140039	+	Nonsense_Mutation	SNP	C	T	T	rs150237904		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54140039C>T	uc002qcf.1	+	2	424	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CACGGGTCATCGAGTCCCCTC	0.567000														99			12		0	0	1	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16734078	16734078	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:16734078C>T	uc011nas.1	+	1	258	c.79C>T	c.(79-81)Ctg>Ttg	p.L27L	NLGN4Y_uc004fte.2_Intron|NLGN4Y_uc004ftg.2_Silent_p.L27L|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Silent_p.L27L|NLGN4Y_uc004fti.4_Silent_p.L27L	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	27					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CAATGTTCTTCTGTGGATAAC	0.458000														38			16		0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65141095	65141095	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:65141095G>A	uc001dbo.1	+	19	2691	c.2586G>A	c.(2584-2586)acG>acA	p.T862T	CACHD1_uc001dbp.1_Silent_p.T617T|CACHD1_uc001dbq.1_Silent_p.T617T|CACHD1_uc010opa.1_Silent_p.T106T	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	913					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGGATTTGACGAACCTTGTGC	0.468000											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73			26		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204950989	204950989	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204950989G>A	uc010prc.2	+	19	2541	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	NFASC_uc001hbj.3_Missense_Mutation_p.E771K|NFASC_uc010pra.2_Missense_Mutation_p.E767K|NFASC_uc001hbi.3_Missense_Mutation_p.E767K|NFASC_uc010prb.2_Missense_Mutation_p.E782K|NFASC_uc001hbk.1_Missense_Mutation_p.E577K|NFASC_uc001hbl.2_Missense_Mutation_p.E21K			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	771	Ig-like C2-type 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GAGGCGGAGAGAGACTCGAGA	0.622000														53			18		0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58197165	58197165	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:58197165C>T	uc001sqj.2	-	14	1856	c.1827G>A	c.(1825-1827)caG>caA	p.Q609Q	AVIL_uc009zqe.2_Silent_p.Q602Q|AVIL_uc001sqk.1_Silent_p.Q187Q	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	609	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CTAGGATTTCCTGCTGAAGTC	0.438000											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		125			66		0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103345860	103345861	+	Missense_Mutation	DNP	GG	AA	AA	rs61757734	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:103345860_103345861GG>AA	uc001ktg.1	-	1	934_935	c.168_169CC>TT	c.(166-171)gcccgg>gcTTgg	p.R57W	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001ktj.2_Missense_Mutation_p.R57W|POLL_uc010qqb.2_Intron|POLL_uc001ktf.3_Missense_Mutation_p.R57W|POLL_uc001kti.2_Missense_Mutation_p.R57W|POLL_uc001ktl.3_5'UTR|POLL_uc001ktm.3_Missense_Mutation_p.R57W|POLL_uc010qqc.2_5'UTR|POLL_uc010qqa.2_Intron|POLL_uc010qqd.2_5'UTR|DPCD_uc001ktn.3_5'Flank	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	57	BRCT.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGTTCTGCCCGGGCTCGTCCAA	0.535000								DNA polymerases (catalytic subunits)						43			18		0	0	1	0	0
TMEM203	94107	broad.mit.edu	37	9	140099732	140099732	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140099732G>A	uc004clv.3	-	0	359	c.135C>T	c.(133-135)tcC>tcT	p.S45S	NDOR1_uc004clx.3_5'Flank|NDOR1_uc004clw.3_5'Flank|NDOR1_uc011mes.2_5'Flank|NDOR1_uc004cly.3_5'Flank	NM_053045	NP_444273	Q969S6	TM203_HUMAN	Homo sapiens transmembrane protein 203 (TMEM203), mRNA.	45						integral to membrane				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGTTCCACCAGGAGAGGCCCG	0.622000														22			5		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103057146	103057146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:103057146G>A	uc001phn.1	+	41	6953	c.6809G>A	c.(6808-6810)cGa>cAa	p.R2270Q	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.R2270Q	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2270	AAA 3 (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)		GACATGCAACGAGGTCTAGAT	0.408000														51			19		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123494522	123494522	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:123494522G>A	uc001uej.1	-	4	717	c.518C>T	c.(517-519)tCc>tTc	p.S173F	PITPNM2_uc001uek.1_Missense_Mutation_p.S173F|PITPNM2_uc009zxu.1_Missense_Mutation_p.S173F	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	173					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCAGTTCTCGGACAGGGGCCC	0.552000														138			72		0	0	1	0	0
MMP11	4320	broad.mit.edu	37	22	24125674	24125674	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:24125674C>T	uc002zxx.3	+	7	1432	c.1410C>T	c.(1408-1410)ccC>ccT	p.P470P	MMP11_uc002zxy.3_Non-coding_Transcript	NM_005940	NP_005931	P24347	MMP11_HUMAN	Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA.	470	Hemopexin-like 4.				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				AAGGCTTCCCCCGTCTCGTGG	0.607000														76			31		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41900269	41900269	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:41900269G>A	uc010skn.2	+	3	863	c.855G>A	c.(853-855)aaG>aaA	p.K285K	PDZRN4_uc001rmq.4_Silent_p.K27K|PDZRN4_uc009zjz.3_Silent_p.K25K	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	285	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCAATGGGAAGGATCTTTCAA	0.438000														59			11		0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	907761	907761	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:907761G>A	uc001ace.3	+	8	1150	c.1115G>A	c.(1114-1116)gGg>gAg	p.G372E	PLEKHN1_uc001acd.3_Missense_Mutation_p.G320E|PLEKHN1_uc001acf.3_Missense_Mutation_p.G332E	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	372										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CACAGGGAGGGGGCCCCGCCG	0.672000														3			7		0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	484774	484775	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:484774_484775CC>TT	uc003jbe.2	-	4	904_905	c.792_793GG>AA	c.(790-795)gtgggg>gtAAgg	p.G265R	SLC9A3_uc011clx.1_Missense_Mutation_p.G265R	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	265						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AAGACCACCCCCACCAGCGTGC	0.644000														66			29		0	0	1	0	0
SLC25A40	55972	broad.mit.edu	37	7	87487997	87487997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87487997G>A	uc003uje.3	-	2	421	c.46C>T	c.(46-48)Ctt>Ttt	p.L16F		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	Homo sapiens solute carrier family 25, member 40 (SLC25A40), nuclear gene encoding mitochondrial protein, mRNA.	16					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					ATTTGTTGAAGAGGTGTCACT	0.323000														49			18		0	0	1	0	0
ARL6IP5	10550	broad.mit.edu	37	3	69151000	69151000	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:69151000C>T	uc003dnr.3	+	1	296	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S		NM_006407	NP_006398	O75915	PRAF3_HUMAN	Homo sapiens ADP-ribosylation-like factor 6 interacting protein 5 (ARL6IP5), mRNA.	63					L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		GTTTCTGAGTCCCTTCAACAT	0.453000														23			6		0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109190152	109190152	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:109190152C>T	uc003pss.4	+	3	591	c.417C>T	c.(415-417)gcC>gcT	p.A139A	ARMC2_uc011eao.2_5'UTR	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	139							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TCAGGGCTGCCTCCCAGCGGG	0.552000														34			21		0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99441632	99441632	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:99441632C>T	uc003yin.3	+	1	1775	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S	KCNS2_uc022azb.1_Silent_p.S475S	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	475						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TAAATGATTCCCTACGTTAGC	0.493000														55			15		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38766682	38766682	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38766682G>A	uc003ciq.3	-	16	3211	c.3211C>T	c.(3211-3213)Cct>Tct	p.P1071S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1071					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGGACCTGAGGAACAGACTCA	0.607000														42			21		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43909390	43909390	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:43909390C>T	uc001cjk.2	+	60	8661	c.6051C>T	c.(6049-6051)ttC>ttT	p.F2017F	SZT2_uc001cjl.2_5'Flank	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2916						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCTTGGCTTTCCTGCAGCAAT	0.622000														160			57		0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353847	45353847	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:45353847G>A	uc002xsl.3	+	1	269	c.172G>A	c.(172-174)Gct>Act	p.A58T		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	58						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GCTCCTGGGGGCTCTCCTCGC	0.607000														43			15		0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23409421	23409421	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23409421G>A	uc002dlo.3	-	13	2030	c.1833C>T	c.(1831-1833)acC>acT	p.T611T		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	611					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CATCTGTGAGGGTTTCTCCGA	0.532000														37			14		0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117708	46117708	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46117708C>T	uc002zfw.1	+	0	622	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	198	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						CGTGTCCCTCCTCTGCCGCCC	0.701000														179			50		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24529224	24529224	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24529224C>T	uc001wlj.2	+	22	2071	c.1914C>T	c.(1912-1914)tcC>tcT	p.S638S	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	638										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GCGACATCTCCCAAGCCTATC	0.662000														129			32		0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23635600	23635600	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23635600G>A	uc001wiz.3	-	1	1027	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	SLC7A8_uc010akj.3_Missense_Mutation_p.P101S	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	101					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CCAGATTTGGGGATGGTGACC	0.542000														186			87		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175833	140175833	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140175833G>A	uc003lhd.2	+	0	1390	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.R428R|PCDHAC2_uc011czy.2_Silent_p.R428R	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	442	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)			TGACCGCACGGGACGGGGGCT	0.632000														124			70		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15702076	15702076	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:15702076C>T	uc001rcv.2	+	13	2823	c.2353C>T	c.(2353-2355)Cct>Tct	p.P785S	PTPRO_uc001rcw.2_Missense_Mutation_p.P785S|PTPRO_uc001rcx.2_5'UTR|PTPRO_uc001rcy.2_5'UTR|PTPRO_uc001rcz.2_5'UTR|PTPRO_uc001rda.2_5'UTR	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	785	Fibronectin type-III 8.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CAGCCTTCTTCCTGCCACTGC	0.428000														173			80		0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50344655	50344655	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:50344655C>T	uc001rvn.3	+	0	132	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	14					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GGGCTGTGTTCGCAGAGTTCC	0.642000														40			24		0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93065419	93065419	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:93065419C>T	uc003umv.2	-	13	1396	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.E332K|CALCR_uc003umw.2_Missense_Mutation_p.E332K	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	348					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GATTCCGCCTCATGGGTTTCC	0.478000														56			21		0	0	1	0	0
ACTR5	79913	broad.mit.edu	37	20	37400247	37400247	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:37400247C>T	uc002xjd.2	+	8	1637	c.1612C>T	c.(1612-1614)Cgt>Tgt	p.R538C		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA.	538					DNA recombination|UV-damage excision repair|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GTACGGTGCTCGTGACTGGGC	0.507000														73			30		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96081485	96081485	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:96081485C>T	uc011lud.1	+	29	7805	c.7805_splice	c.e29+1		WNK2_uc004atj.3_Intron|WNK2_uc004atk.3_3'UTR|C9orf129_uc010mre.3_Intron	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.						intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CACTTTTGCTCGAAAACAGTG	0.453000														24			12		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482128	37482128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:37482128G>A	uc021ppc.1	+	26	2487	c.2388G>A	c.(2386-2388)atG>atA	p.M796I	ANKRD30A_uc001iza.1_Missense_Mutation_p.M796I	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	852						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCTGCAGAATGAAAGTTTCTA	0.269000														97			44		0	0	1	0	0
NR2F1	7025	broad.mit.edu	37	5	92924027	92924027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:92924027G>A	uc003kkj.3	+	1	2555	c.868G>A	c.(868-870)Gac>Aac	p.D290N	NR2F1_uc021ybj.1_Missense_Mutation_p.D239N|NR2F1_uc021ybk.1_Missense_Mutation_p.D265N	NM_005654	NP_005645	P10589	COT1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA.	290					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CATGTCTGCCGACCGCGTCGT	0.657000														53			14		0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227339	75227339	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:75227339G>A	uc003yae.3	-	1	936	c.896C>T	c.(895-897)tCc>tTc	p.S299F	JPH1_uc003yaf.3_Missense_Mutation_p.S299F|JPH1_uc003yag.1_Missense_Mutation_p.S163F	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	299					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)			CATGCCATTGGAGCGCTCGCT	0.537000														159			26		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34888231	34888231	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:34888231C>T	uc003teh.1	+	7	1109	c.981C>T	c.(979-981)ccC>ccT	p.P327P	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.P327P|NPSR1_uc010kwt.1_Silent_p.P174P|NPSR1_uc010kwu.1_Silent_p.P117P|NPSR1_uc010kwv.1_Silent_p.P261P|NPSR1_uc003tei.1_Silent_p.P327P|NPSR1_uc010kww.1_Silent_p.P316P|NPSR1_uc011kar.1_Silent_p.P261P	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	327						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCATCAACCCCCTCATCTACT	0.502000														152			44		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12704715	12704715	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12704715C>T	uc001auf.3	+	0	150	c.150C>T	c.(148-150)ttC>ttT	p.F50F		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	50						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		ATTGCATATTCCTCTACCTGG	0.507000														174			58		0	0	1	0	0
TAS2R42	353164	broad.mit.edu	37	12	11338854	11338854	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:11338854C>T	uc001qzr.1	-	0	690	c.690G>A	c.(688-690)agG>agA	p.R230R	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	Homo sapiens taste receptor, type 2, member 42 (TAS2R42), mRNA.	230					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			TCATGGCCCTCCTATGGGCCT	0.408000														98			23		0	0	1	0	0
NUP37	79023	broad.mit.edu	37	12	102471194	102471194	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:102471194G>A	uc001tjc.3	-	5	693	c.628C>T	c.(628-630)Cca>Tca	p.P210S	NUP37_uc009zub.1_Missense_Mutation_p.P210S	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN	Homo sapiens nucleoporin 37kDa (NUP37), mRNA.	210					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						GACATTAATGGCACTTGTTCT	0.403000														70			50		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767332	77767332	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:77767332G>A	uc003yau.2	+	9	8562	c.8175G>A	c.(8173-8175)caG>caA	p.Q2725Q	ZFHX4_uc003yaw.1_Silent_p.Q2680Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2680						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)			AAAGCCCACAGAAATACATCT	0.428000										HNSCC(33;0.089)				29			5		0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28537605	28537606	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:28537605_28537606GG>AA	uc002hey.4	-	10	1920_1921	c.1376_1377CC>TT	c.(1375-1377)gcc>gTT	p.A459V	SLC6A4_uc010csg.3_Non-coding_Transcript	NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	459					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCCGGCGCTTGGCCCAGACGTG	0.589000														73			8		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24959159	24959159	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:24959159T>A	uc001isb.2	-	2	718	c.231A>T	c.(229-231)caA>caT	p.Q77H	ARHGAP21_uc009xkl.1_Missense_Mutation_p.Q77H|ARHGAP21_uc001isc.1_Missense_Mutation_p.Q77H|ARHGAP21_uc001isd.1_Missense_Mutation_p.Q77H	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	76	PDZ.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TATATGAAAATTGAATTGCAG	0.398000														49			28		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955839	51955839	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51955839G>A	uc002pwt.3	-	6	1361	c.1294C>T	c.(1294-1296)Ccc>Tcc	p.P432S	SIGLEC8_uc010yda.2_Missense_Mutation_p.P323S|SIGLEC8_uc002pwu.3_Intron|SIGLEC8_uc010eox.2_Missense_Mutation_p.P339S	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	432					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)		ACAGCTGGGGGAGGCTTCTTC	0.592000														42			22		0	0	1	0	0
MRPS24	64951	broad.mit.edu	37	7	43906397	43906397	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:43906397G>A	uc003tit.1	-	3	456	c.405C>T	c.(403-405)ctC>ctT	p.L135L	URGCP_uc022acg.1_3'UTR	NM_032014	NP_114403	Q96EL2	RT24_HUMAN	Homo sapiens mitochondrial ribosomal protein S24 (MRPS24), nuclear gene encoding mitochondrial protein, mRNA.	135					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						TGTAGCCCACGAGGAAGTAGT	0.512000														67			35		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502575	90502575	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90502575G>A	uc004app.4	+	3	3208	c.3173G>A	c.(3172-3174)gGa>gAa	p.G1058E		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1058						integral to membrane											GCAAGTTCGGGAAGTGTTCAG	0.597000														88			16		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183714469	183714469	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:183714469G>A	uc003ivd.1	+	24	6719	c.6644G>A	c.(6643-6645)cGa>cAa	p.R2215Q		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2215					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CTTCTAACTCGAGTTTACAGT	0.483000														51			23		0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89068470	89068470	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:89068470T>G	uc003yeb.4	-	7	1541	c.1259A>C	c.(1258-1260)cAa>cCa	p.Q420P		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	420	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GTAACCAGGTTGAAGAGTTGT	0.363000														67			33		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74018548	74018548	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74018548G>A	uc010wss.1	-	4	780	c.552C>T	c.(550-552)atC>atT	p.I184I	EVPL_uc002jqi.2_Silent_p.I184I|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	184	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	p.N183N(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCTTCTGCAGGATGTTGTGCT	0.682000														29			8		0	0	1	0	0
MSH5	4439	broad.mit.edu	37	6	31728484	31728484	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31728484C>T	uc003nwu.2	+	19	1958	c.1830C>T	c.(1828-1830)ttC>ttT	p.F610F	MSH5_uc003nwx.2_Silent_p.F627F|MSH5_uc003nwv.2_Silent_p.F610F|MSH5_uc003nww.2_Silent_p.F610F|MSH5_uc011dof.1_Silent_p.F309F|MSH5_uc003nwy.1_Silent_p.F284F|SAPCD1_uc003nwz.4_5'UTR	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	610					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						TGATCACATTCATGGCCCTGG	0.557000								Direct reversal of damage;Mismatch excision repair (MMR)						99			44		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509173	228509173	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228509173G>A	uc009xez.1	+	54	14675	c.14631G>A	c.(14629-14631)gtG>gtA	p.V4877V	OBSCN_uc001hsn.3_Silent_p.V4877V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4877	IQ.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCAGCTGTGAAGATCCAGG	0.597000														9			6		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542206	133542206	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:133542206T>A	uc002ttp.3	-	13	2552	c.2178A>T	c.(2176-2178)gcA>gcT	p.A726A	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	726							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TATAGTCTCTTGCAGCAGCTC	0.408000														89			7		0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12483637	12483637	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:12483637G>A	uc001rai.1	-	3	878	c.620C>T	c.(619-621)tCa>tTa	p.S207L	MANSC1_uc010shm.1_Missense_Mutation_p.S141L|MANSC1_uc001raj.1_Missense_Mutation_p.S173L	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	207						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GGAAAATTGTGAACTCTGAGA	0.463000														51			20		0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102250605	102250605	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:102250605G>A	uc001krc.1	-	19	2610	c.2508C>T	c.(2506-2508)acC>acT	p.T836T	SEC31B_uc010qpo.1_Silent_p.T835T|SEC31B_uc001krd.1_Silent_p.T373T|SEC31B_uc001krf.1_Silent_p.T373T|SEC31B_uc001kre.1_Silent_p.T373T	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	836	Pro-rich.				protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ATGACTGAGGGGTGAAAACCC	0.488000														54			10		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26414504	26414504	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:26414504T>A	uc001isn.2	+	18	2441	c.2081T>A	c.(2080-2082)aTt>aAt	p.I694N	MYO3A_uc009xko.1_Missense_Mutation_p.I694N|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	694	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTCAATTGCATTAACAGTTTG	0.348000														139			13		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16001112	16001112	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:16001112C>T	uc010lsu.3	-	7	1106	c.1042G>A	c.(1042-1044)Gga>Aga	p.G348R	MSR1_uc003wwz.3_Missense_Mutation_p.G330R|MSR1_uc003wxa.3_Missense_Mutation_p.G330R|MSR1_uc003wxb.3_Missense_Mutation_p.G330R|MSR1_uc011kxz.2_Missense_Mutation_p.G104R	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	330					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCTTTTGGTCCAGAATTTCCT	0.328000														56			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596678	179596678	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179596678C>T	uc021vsy.1	-	54	13417	c.13192G>A	c.(13192-13194)Gaa>Aaa	p.E4398K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1059K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5325	Ig-like 24.						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)			GGCTTAAATTCCTTGGTAAAA	0.443000														74			10		0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64116835	64116835	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64116835G>A	uc001nzy.3	+	14	2698	c.2649G>A	c.(2647-2649)gaG>gaA	p.E883E	CCDC88B_uc009ypo.2_Silent_p.E880E|CCDC88B_uc001nzz.1_Silent_p.E532E|CCDC88B_uc001oaa.3_Silent_p.E35E	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	883					microtubule cytoskeleton organization	cytoplasm	microtubule binding	p.K882N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCAAGGAGTTGGGGGACC	0.637000														16			7		0	0	1	0	0
C16orf85	400555	broad.mit.edu	37	16	88620309	88620309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:88620309G>A	uc010vox.1	-	1	321	c.321C>T	c.(319-321)gcC>gcT	p.A107A						RecName: Full=Putative uncharacterized protein C16orf85;											kidney(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(80;0.048)		GTTCCTGCAGGGCTGCCGTCT	0.632000														51			6		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160059264	160059264	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:160059264T>A	uc003lym.1	-	12	2339	c.1492A>T	c.(1492-1494)Agc>Tgc	p.S498C	ATP10B_uc003lyn.3_Missense_Mutation_p.S56C	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	498					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(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTTTTGGCTTCTCATAGTT	0.582000														54			7		0	0	1	0	0
KAT8	84148	broad.mit.edu	37	16	31131550	31131550	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31131550C>T	uc002eay.3	+	1	273	c.255C>T	c.(253-255)ggC>ggT	p.G85G	KAT8_uc002eax.3_Silent_p.G85G	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	Homo sapiens K(lysine) acetyltransferase 8 (KAT8), transcript variant 1, mRNA.	85	Chromo.				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										ACCAGGAGGGCCGAGAGGAAT	0.547000														105			41		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451424	38451424	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38451424G>A	uc003jlc.2	+	19	2921	c.2575G>A	c.(2575-2577)Gga>Aga	p.G859R	EGFLAM_uc003jlb.2_Missense_Mutation_p.G851R|EGFLAM_uc003jle.2_Missense_Mutation_p.G617R|EGFLAM_uc003jlf.2_Missense_Mutation_p.G217R|EGFLAM_uc003jlg.2_5'UTR	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	859	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAGGGTGTCAGGATCAAGATC	0.473000														170			46		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113241079	113241079	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:113241079G>A	uc003ynu.3	-	69	11029	c.10870C>T	c.(10870-10872)Cat>Tat	p.H3624Y	CSMD3_uc003yns.3_Missense_Mutation_p.H2826Y|CSMD3_uc003ynt.3_Missense_Mutation_p.H3584Y|CSMD3_uc011lhx.2_Missense_Mutation_p.H3455Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3624						integral to membrane|plasma membrane		p.P3623L(1)		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						TTTGTACCATGAGGTTGATTT	0.279000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				60			29		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106714636	106714636	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106714636C>T	uc021ser.1	-	1006		c.23220G>A								Parts of antibodies, mostly variable regions.																		TACCAAGCCTCCCCCAGACTC	0.567000														105			47		0	0	1	0	0
PLAA	9373	broad.mit.edu	37	9	26928394	26928394	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:26928394G>A	uc003zqd.3	-	2	781	c.356C>T	c.(355-357)tCa>tTa	p.S119L	PLAA_uc003zqe.2_Missense_Mutation_p.S119L	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	Homo sapiens phospholipase A2-activating protein (PLAA), mRNA.	119					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TTTTCCAGATGATAGACTACA	0.358000														48			5		0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505354	159505354	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159505354G>A	uc010piw.2	-	0	444	c.444C>T	c.(442-444)tcC>tcT	p.S148S		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CAATGCCAAAGGACCCACACA	0.502000														72			26		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52425320	52425320	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52425320C>T	uc011bef.2	+	61	10128	c.9867C>T	c.(9865-9867)gcC>gcT	p.A3289A	DNAH1_uc003ddv.3_Silent_p.A147A	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3354	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TAGACCCAGCCCTGGAGCCAG	0.627000														15			6		0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61510285	61510285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:61510285G>A	uc002sbe.3	-	36	5015	c.4993C>T	c.(4993-4995)Cct>Tct	p.P1665S	USP34_uc002sbf.3_5'Flank	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	1665					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTTACCTCAGGAATAAGGAGA	0.343000														69			25		0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34656261	34656261	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34656261G>A	uc001zig.3	-	4	699	c.605C>T	c.(604-606)cCt>cTt	p.P202L	LPCAT4_uc010bav.1_3'UTR	NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.	202					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GGTGCCCTCAGGAAAGAATAG	0.458000														132			51		0	0	1	0	0
CNN3	1266	broad.mit.edu	37	1	95368697	95368697	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:95368697G>A	uc001dqz.4	-	2	512	c.227C>T	c.(226-228)tCc>tTc	p.S76F	CNN3_uc010otv.2_Missense_Mutation_p.S35F|CNN3_uc010otx.2_Missense_Mutation_p.S76F	NM_001839	NP_001830	Q15417	CNN3_HUMAN	Homo sapiens calponin 3, acidic (CNN3), mRNA.	76	CH.				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		GTTCAGTGAGGACTCGTTGAC	0.403000														47			25		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701300	192701300	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:192701300G>A	uc002utb.3	-	1	982	c.627C>T	c.(625-627)ccC>ccT	p.P209P		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	209						caveola|cytosol	phosphatidylserine binding|protein binding	p.P209S(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CCTCATCGTGGGGCAAATCAT	0.522000														101			32		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283061	5283061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:5283061C>T	uc010zqw.2	-	1	788	c.780G>A	c.(778-780)acG>acA	p.T260T	PROKR2_uc010zqx.2_Silent_p.T260T|PROKR2_uc010zqy.2_Silent_p.T260T	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	260						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAATCTGCTCCGTCTGGAACC	0.607000										HNSCC(71;0.22)				55			22		0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10132058	10132058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10132058C>T	uc002mmr.3	+	4	913	c.664C>T	c.(664-666)Cca>Tca	p.P222S		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	222					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCTCTATCTCCCAGCCTCCAG	0.587000														103			33		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904255	73904255	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:73904255C>T	uc011dyh.2	+	14	2321	c.1974C>T	c.(1972-1974)ctC>ctT	p.L658L	KCNQ5_uc011dyi.2_Silent_p.L649L|KCNQ5_uc010kat.3_Silent_p.L630L|KCNQ5_uc003pgk.3_Silent_p.L639L|KCNQ5_uc011dyj.2_Silent_p.L529L|KCNQ5_uc011dyk.2_Silent_p.L389L	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	639					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CCTCAGCCCTCGCTTTGGCTT	0.473000														48			6		0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13749204	13749204	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:13749204C>T	uc001mld.3	+	10	1514	c.1359C>T	c.(1357-1359)ctC>ctT	p.L453L		NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	Homo sapiens fatty acyl CoA reductase 1 (FAR1), mRNA.	453					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						TGTCTGGCCTCCCTGCAGCCA	0.383000														93			24		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124333366	124333366	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124333366C>T	uc001uft.4	+	32	5710	c.5685C>T	c.(5683-5685)tcC>tcT	p.S1895S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1895	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGTGCTCTCCGTGATCTCCT	0.542000														21			6		0	0	1	0	0
GPN3	51184	broad.mit.edu	37	12	110895368	110895368	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:110895368G>A	uc021rdu.1	-	3	599	c.514C>T	c.(514-516)Cga>Tga	p.R172*	GPN3_uc001tqr.3_Nonsense_Mutation_p.R133*|GPN3_uc001tqs.3_Nonsense_Mutation_p.R143*	NM_001164372	NP_001157844	Q9UHW5	GPN3_HUMAN	Homo sapiens GPN-loop GTPase 3 (GPN3), transcript variant 2, mRNA.	133						protein complex	GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						CCACAGACTCGGAACTCCCAC	0.393000														43			19		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41012157	41012157	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41012157C>T	uc002ony.3	+	12	1766	c.1680C>T	c.(1678-1680)tcC>tcT	p.S560S	SPTBN4_uc002onx.3_Silent_p.S560S|SPTBN4_uc002onz.3_Silent_p.S560S	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	560					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCTGCTGTCCCGGGAGTGTG	0.652000														74			30		0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124731866	124731866	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124731866G>A	uc011bke.2	-	6	2925	c.2857C>T	c.(2857-2859)Ctt>Ttt	p.L953F	HEG1_uc003ehs.4_Missense_Mutation_p.L853F	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	853						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTGGTCATAAGAGGCTGAGAG	0.517000														156			29		0	0	1	0	0
SLC25A10	1468	broad.mit.edu	37	17	79674064	79674064	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:79674064C>T	uc010wut.2	+	3	606	c.474C>T	c.(472-474)ctC>ctT	p.L158L	SLC25A10_uc002kbh.2_Silent_p.L158L	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	GCATCAACCTCGTCCAGGTCT	0.582000														43			20		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57257852	57257852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57257852C>T	uc001cym.4	-	1	1040	c.634G>A	c.(634-636)Gat>Aat	p.D212N	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.D212N	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	212										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AAAGAGGGATCTTCAGAGACG	0.502000														136			57		0	0	1	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17369021	17369021	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:17369021G>A	uc001ipd.3	-	5	627	c.627C>T	c.(625-627)ttC>ttT	p.F209F	ST8SIA6_uc010qce.2_Intron	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (ST8SIA6), mRNA.	209					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ACCTAAAAACGAAGTCGGATT	0.383000														51			30		0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52376092	52376092	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52376092G>A	uc010yde.2	-	6	1542	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Missense_Mutation_p.S325L|ZNF577_uc002pxv.3_Missense_Mutation_p.S377L|ZNF577_uc002pxw.3_Missense_Mutation_p.S318L	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CACCGTCAGTGAATTTATGGC	0.423000														133			39		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40251444	40251444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:40251444G>A	uc003cka.3	+	10	1900	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.E589K|MYRIP_uc010hhw.3_Missense_Mutation_p.E500K|MYRIP_uc011ayz.2_Missense_Mutation_p.E402K|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	589	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CAGGCTGTACGAGTTAGCAAT	0.493000														72			32		0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57272128	57272128	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:57272128C>T	uc003dio.3	+	3	416	c.269C>T	c.(268-270)tCa>tTa	p.S90L	APPL1_uc010hnb.3_Missense_Mutation_p.S90L|APPL1_uc011bey.1_Missense_Mutation_p.S73L	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	90	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CAACAGTTTTCAAAAGTTATA	0.328000														45			19		0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130712923	130712923	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130712923G>A	uc011bli.2	+	20	2436	c.2140G>A	c.(2140-2142)Gat>Aat	p.D714N	ATP2C1_uc011blg.2_Missense_Mutation_p.D714N|ATP2C1_uc011blh.2_Missense_Mutation_p.D675N|ATP2C1_uc003enk.3_Missense_Mutation_p.D664N|ATP2C1_uc003enl.3_Missense_Mutation_p.D680N|ATP2C1_uc003enm.3_Missense_Mutation_p.D680N|ATP2C1_uc003enn.3_Missense_Mutation_p.D664N|ATP2C1_uc003eno.3_Missense_Mutation_p.D680N|ATP2C1_uc003enp.3_Missense_Mutation_p.D680N|ATP2C1_uc003ent.3_Missense_Mutation_p.D680N|ATP2C1_uc003ens.3_Missense_Mutation_p.D680N|ATP2C1_uc003enu.3_Missense_Mutation_p.D358N	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	680					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CCTAGTGGATGATGATTTTCA	0.458000									Hailey-Hailey disease					70			43		0	0	1	0	0
MTA1	9112	broad.mit.edu	37	14	105936526	105936526	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105936526G>A	uc001yqx.3	+	20	2309	c.2122G>A	c.(2122-2124)Gac>Aac	p.D708N	MTA1_uc001yqy.3_3'UTR|MTA1_uc021seq.1_Missense_Mutation_p.D696N|MTA1_uc001yrb.3_Missense_Mutation_p.D473N|CRIP2_uc010tyr.1_5'Flank|CRIP2_uc001yrc.2_5'Flank	NM_004689	NP_004680	Q13330	MTA1_HUMAN	Homo sapiens metastasis associated 1 (MTA1), transcript variant 1, mRNA.	708					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GCCCGTCAACGACGAGCCCAT	0.776000														17			12		0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125396438	125396438	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:125396438G>A	uc001ugs.4	-	1	2338	c.1880C>T	c.(1879-1881)cCc>cTc	p.P627L	UBC_uc001ugr.3_Non-coding_Transcript|UBC_uc001ugt.3_Missense_Mutation_p.P475L|UBC_uc001ugu.1_Missense_Mutation_p.P551L|UBC_uc001ugv.3_Missense_Mutation_p.P95L|UBC_uc021rge.1_Missense_Mutation_p.P627L	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	627	Ubiquitin-like 9.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGTGTCACTGGGCTCCACCTC	0.527000														167			63		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655992	19655992	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19655992C>T	uc002nmw.4	+	7	2741	c.2656C>T	c.(2656-2658)Ccg>Tcg	p.P886S	CILP2_uc002nmv.4_Missense_Mutation_p.P880S	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	880						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCCTGTGTACCCGTGGCGCAG	0.677000														35			19		0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895188	45895188	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45895188G>A	uc002pbn.3	-	7	1842	c.1765C>T	c.(1765-1767)Cca>Tca	p.P589S	PPP1R13L_uc002pbm.3_Missense_Mutation_p.P168S|PPP1R13L_uc002pbo.3_Missense_Mutation_p.P589S	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	589	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GCCGGGGGTGGAATGGGAGCT	0.667000														34			21		0	0	1	0	0
USP45	85015	broad.mit.edu	37	6	99885165	99885165	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:99885165G>A	uc003ppx.2	-	16	2804	c.2271C>T	c.(2269-2271)tcC>tcT	p.S757S	USP45_uc003ppv.2_Non-coding_Transcript|USP45_uc003ppw.2_Silent_p.S437S	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA.	757					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATAATTTCCTGGAGGGTGTTC	0.388000														62			18		0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55523612	55523612	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:55523612C>T	uc002ehz.4	+	6	1367	c.1056C>T	c.(1054-1056)ccC>ccT	p.P352P	MMP2_uc010vhd.2_Silent_p.P276P|MMP2_uc010ccc.3_Silent_p.P302P	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	352	Collagen-binding.|Fibronectin type-II 3.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GTGTCTTCCCCTTCACTTTCC	0.577000														141			60		0	0	1	0	0
IL17REL	400935	broad.mit.edu	37	22	50436142	50436142	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50436142C>T	uc003bje.1	-	11	1081	c.849G>A	c.(847-849)cgG>cgA	p.R283R		NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN	Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA.	283										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CGAAAGGGCACCGCACCCAGG	0.587000														58			15		0	0	1	0	0
TCP10L2	401285	broad.mit.edu	37	6	167591985	167591985	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:167591985G>A	uc010kkp.3	+	4	743	c.612G>A	c.(610-612)agG>agA	p.R204R		NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN	Homo sapiens t-complex 10-like 2 (mouse) (TCP10L2), mRNA.	204										endometrium(1)|kidney(2)|lung(3)	6						CCACTGGAAGGCCGACTCCCG	0.522000														80			18		0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88958337	88958337	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:88958337C>T	uc002fmm.2	-	4	953	c.664G>A	c.(664-666)Gag>Aag	p.E222K	CBFA2T3_uc002fml.2_Missense_Mutation_p.E136K|CBFA2T3_uc010cif.1_Missense_Mutation_p.E161K|CBFA2T3_uc002fmn.2_Missense_Mutation_p.E197K	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	222	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TTGGTGGCCTCCTGAAGCTTG	0.587000			T	RUNX1	AML									30			10		0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101585705	101585705	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:101585705G>T	uc004ayz.3	+	1	539	c.539G>T	c.(538-540)aGa>aTa	p.R180I		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.	180	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R180I(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TACAGTGATAGAGGTGAGTCC	0.537000														54			12		0.00185496	0.00185659	1	1	0
DUSP27	92235	broad.mit.edu	37	1	167097327	167097327	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167097327G>A	uc001geb.1	+	4	2975	c.2959G>A	c.(2959-2961)Gaa>Aaa	p.E987K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	987	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCAGTCAGAGGAACAGGACAC	0.517000														122			8		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39645736	39645736	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39645736G>A	uc003xnj.3	-	8	752	c.677C>T	c.(676-678)tCt>tTt	p.S226F	ADAM2_uc003xnk.3_Missense_Mutation_p.S207F|ADAM2_uc011lck.2_Missense_Mutation_p.S226F|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	226	Peptidase M12B.				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)		CTCCAATGAAGACAGAATAAT	0.259000														66			32		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130187862	130187862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130187862C>T	uc010htj.1	+	37	7508	c.7014C>T	c.(7012-7014)gtC>gtT	p.V2338V	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Silent_p.V377V|COL6A5_uc010htk.1_Silent_p.V377V	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2338	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGGTTGCTGTCCTGAGCTACT	0.428000														30			10		0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73832317	73832317	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73832317G>A	uc002jpp.3	-	15	1790	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	UNC13D_uc010wsk.1_Silent_p.F470F|UNC13D_uc002jpq.1_Silent_p.F120F|UNC13D_uc010dgq.1_Silent_p.F266F	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	470	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTCAGGTGGAACCATTCAG	0.667000									Familial Hemophagocytic Lymphohistiocytosis					11			7		0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42739655	42739655	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42739655G>A	uc003clw.3	-	6	819	c.672C>T	c.(670-672)acC>acT	p.T224T	HHATL_uc003clx.3_Silent_p.T224T	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	224					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		AGCGATCAAAGGTCATGATGG	0.527000														62			33		0	0	1	0	0
ARG2	384	broad.mit.edu	37	14	68117433	68117433	+	Splice_Site	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:68117433G>C	uc001xjs.3	+	8	976	c.860_splice	c.e8-1	p.G287_splice		NM_001172	NP_001163	P78540	ARGI2_HUMAN	Homo sapiens arginase, type II (ARG2), nuclear gene encoding mitochondrial protein, mRNA.	287					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TTCTTCCAGGGTTGCTATCAG	0.488000														64			7		0	0	1	0	0
CKS2	1164	broad.mit.edu	37	9	91931305	91931305	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:91931305T>C	uc004aqh.3	+	2	300	c.205T>C	c.(205-207)Ttt>Ctt	p.F69L	SECISBP2_uc010mqn.1_5'Flank|SECISBP2_uc004aqi.1_5'Flank|SECISBP2_uc010mqo.1_5'Flank|SECISBP2_uc004aqj.1_5'Flank|SECISBP2_uc004aqk.1_5'Flank|SECISBP2_uc011ltk.1_5'Flank|SECISBP2_uc011ltl.1_5'Flank	NM_001827	NP_001818	P33552	CKS2_HUMAN	Homo sapiens CDC28 protein kinase regulatory subunit 2 (CKS2), mRNA.	69					cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization		cyclin-dependent protein kinase regulator activity			kidney(1)|large_intestine(1)	2						TATTCTTCTCTTTAGACGACC	0.289000														17			3		0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7064026	7064026	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7064026G>A	uc001qsb.2	+	3	627	c.385G>A	c.(385-387)Gag>Aag	p.E129K	PTPN6_uc001qsa.1_Missense_Mutation_p.E131K|PTPN6_uc010sfr.1_Missense_Mutation_p.E90K|PTPN6_uc009zfl.1_Missense_Mutation_p.E129K|PTPN6_uc010sfs.1_Missense_Mutation_p.E117K	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	129	SH2 2.				G-protein coupled receptor protein signaling pathway|T cell costimulation|apoptosis|cell junction assembly|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	p.E129K(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GGCCAAGGGCGAGCCCTGGAC	0.637000														64			6		0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207140439	207140439	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207140439C>T	uc001hfa.4	-	2	627	c.127G>A	c.(127-129)Gga>Aga	p.G43R	FCAMR_uc001hfb.3_Missense_Mutation_p.G43R|FCAMR_uc009xca.2_Missense_Mutation_p.G43R|FCAMR_uc021pig.1_5'Flank	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	342						integral to membrane|plasma membrane	receptor activity	p.A42A(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						ATTTTCCATCCCGCCCTCCTG	0.527000														51			5		0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71063012	71063013	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71063012_71063013GG>AA	uc003hfc.3	+	2	132_133	c.115_116GG>AA	c.(115-117)ggt>AAt	p.G39N		NM_017855	NP_060325	A1E959	ODAM_HUMAN	Homo sapiens odontogenic, ameloblast asssociated (ODAM), mRNA.	39					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCTTAATAATGGTCAACTTTTG	0.277000														87			23		0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120103399	120103399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:120103399G>A	uc003yoo.3	+	2	329	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	78	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			AATTAAAGGAGAACTGGGTGA	0.383000														88			9		0	0	1	0	0
WDR69	164781	broad.mit.edu	37	2	228754612	228754612	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228754612G>A	uc002vpn.1	+	2	233	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	WDR69_uc010zlw.1_Missense_Mutation_p.E37K|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	52										breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCAGAAGGCAGAACCTCTACT	0.383000														65			27		0	0	1	0	0
TFE3	7030	broad.mit.edu	37	X	48896732	48896732	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:48896732G>A	uc004dmb.3	-	2	672	c.434C>T	c.(433-435)cCt>cTt	p.P145L	TFE3_uc004dmc.3_Missense_Mutation_p.P40L|TFE3_uc004dme.1_Non-coding_Transcript	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	145					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGCAGGTGCAGGACTGGGGAA	0.682000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""									14			13		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975176	44975176	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:44975176C>T	uc001wvn.3	-	0	1324	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	339	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGAGACTCTTCAGCTGATGGA	0.517000														117			33		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46718188	46718188	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46718188G>A	uc003cqa.2	-	17	2165	c.1972C>T	c.(1972-1974)Ctg>Ttg	p.L658L	ALS2CL_uc003cpx.2_Silent_p.L5L|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Silent_p.L173L|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.L658L	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	658					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGCTCCTCCAGGATGTCTTCC	0.652000														51			26		0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96860798	96860798	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:96860798C>T	uc010mrj.2	+	5	2052	c.1950C>T	c.(1948-1950)gcC>gcT	p.A650A	PTPDC1_uc004auf.2_Silent_p.A596A|PTPDC1_uc004aug.2_Silent_p.A596A|PTPDC1_uc004auh.2_Silent_p.A648A|PTPDC1_uc010mri.2_Silent_p.A648A	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	596							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L649Q(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CGGCCAAAGCCCTAGCAAATT	0.388000														82			43		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101767275	101767275	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:101767275C>T	uc004azb.1	+	8	1502	c.1296C>T	c.(1294-1296)gcC>gcT	p.A432A		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	432	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GTGGTGTGGCCCCCGGGGAGC	0.622000														64			15		0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55714563	55714563	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55714563C>T	uc010spi.2	+	0	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TGTATTTCTTCCTCAGAAATT	0.418000														80			33		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400205	47400205	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47400205G>A	uc001cqp.4	-	6	868	c.817C>T	c.(817-819)Caa>Taa	p.Q273*	CYP4A11_uc001cqq.2_Nonsense_Mutation_p.Q273*|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	273					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TTCTGTAGTTGAGCCTTCCTC	0.532000														93			31		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129284780	129284780	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:129284780G>A	uc003emx.2	-	23	4372	c.4272C>T	c.(4270-4272)atC>atT	p.I1424I	PLXND1_uc011blb.1_Silent_p.I92I|U7_uc021xdx.1_5'Flank	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1424					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGACAAAGACGATGAGGAAGT	0.557000														53			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056563	9056563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9056563G>A	uc002mkp.3	-	2	31087	c.30883C>T	c.(30883-30885)Cca>Tca	p.P10295S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10297	Ser-rich.|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						ATGGCTCGTGGAACTCCAGTG	0.522000														79			21		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703555	60703555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60703555C>T	uc001nqi.3	+	10	2444	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	TMEM132A_uc001nqj.3_Missense_Mutation_p.R750W	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	750	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCCCTGCCGCCGGGGCCGCCA	0.746000														22			4		0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142037485	142037485	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:142037485G>A	uc003eus.3	-	38	4634	c.4567C>T	c.(4567-4569)Cct>Tct	p.P1523S	XRN1_uc010huu.3_Missense_Mutation_p.P990S|XRN1_uc003eut.3_Missense_Mutation_p.P1523S|XRN1_uc003euu.3_Missense_Mutation_p.P1524S	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1523					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ACAGCTGAAGGATAATTTGCA	0.368000														11			5		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7169850	7169850	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7169850C>T	uc001qsj.3	+	5	796	c.77C>T	c.(76-78)cCt>cTt	p.P26L	C1S_uc001qsk.3_Missense_Mutation_p.P26L|C1S_uc001qsl.3_Missense_Mutation_p.P26L|C1S_uc009zfr.3_Intron|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	26	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ATCCTGTCCCCTAACTATCCT	0.473000														83			17		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15734690	15734690	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:15734690G>A	uc001rcv.2	+	22	3680	c.3210G>A	c.(3208-3210)gaG>gaA	p.E1070E	PTPRO_uc001rcw.2_Silent_p.E1042E|PTPRO_uc001rcx.2_Silent_p.E259E|PTPRO_uc001rcy.2_Silent_p.E259E|PTPRO_uc001rcz.2_Silent_p.E231E|PTPRO_uc001rda.2_Silent_p.E231E	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	1070	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGATTTCAGAGGAAGAGCAGG	0.498000														60			28		0	0	1	0	0
DPP7	29952	broad.mit.edu	37	9	140006426	140006426	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140006426G>A	uc004clh.3	-	9	1136	c.1106C>T	c.(1105-1107)cCg>cTg	p.P369L		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA.	369						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GGGCAGGTCCGGGAACATATC	0.667000														40			6		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57180319	57180319	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:57180319C>T	uc003hbk.2	+	7	1042	c.651C>T	c.(649-651)tcC>tcT	p.S217S	KIAA1211_uc010iha.2_Silent_p.S210S|KIAA1211_uc011bzz.1_Silent_p.S127S|KIAA1211_uc003hbm.1_Silent_p.S103S	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	217	Glu-rich.							p.S217F(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGCTGGATTCCGAGGAAGAGA	0.607000														34			10		0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42754805	42754805	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42754805C>T	uc003cly.4	-	13	1806	c.1722G>A	c.(1720-1722)gtG>gtA	p.V574V		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	574										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TGCTCTCCTCCACCCTGGTGA	0.602000														116			11		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78647157	78647157	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:78647157G>A	uc001jxn.3	-	27	3755	c.3578C>T	c.(3577-3579)tCc>tTc	p.S1193F	KCNMA1_uc021ptu.1_Missense_Mutation_p.S1085F|KCNMA1_uc001jxj.2_Missense_Mutation_p.S1139F|KCNMA1_uc001jxk.1_Missense_Mutation_p.S811F|KCNMA1_uc009xrt.1_Missense_Mutation_p.S984F|KCNMA1_uc001jxl.1_Missense_Mutation_p.S818F|KCNMA1_uc001jxo.3_Missense_Mutation_p.S1176F|KCNMA1_uc001jxm.3_Missense_Mutation_p.S1135F|KCNMA1_uc001jxq.3_Missense_Mutation_p.S1165F|BC030624_uc001jxp.3_5'Flank	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1193					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CGACGAGTGGGAGGAATGGGA	0.602000														64			23		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52131192	52131192	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52131192T>A	uc002pxe.3	-	4	1031	c.892A>T	c.(892-894)Atc>Ttc	p.I298F		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	298	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		AGCTCCAAGATCCCGGTATTG	0.597000														103			37		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51758030	51758030	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51758030G>A	uc001ryk.2	-	4	1149	c.924C>T	c.(922-924)ttC>ttT	p.F308F	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Silent_p.F308F	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	308					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CGGGCTTGGCGAACTCAAAAG	0.582000														38			17		0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180432608	180432608	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:180432608C>T	uc003mmr.3	+	7	1321	c.1137C>T	c.(1135-1137)gtC>gtT	p.V379V	BTNL3_uc010jlp.3_Silent_p.V164V	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	379	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGTATTGGGTCCTCAGACTGA	0.502000														57			14		0	0	1	0	0
IL28A	282616	broad.mit.edu	37	19	39759326	39759326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39759326G>A	uc002oku.1	+	1	72	c.20G>A	c.(19-21)gGg>gAg	p.G7E		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	Homo sapiens interleukin 28A (interferon, lambda 2) (IL28A), mRNA.	7					response to virus	extracellular space	cytokine activity			cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GACATGACTGGGGACTGCACG	0.647000														58			5		0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148747925	148747925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:148747925C>T	uc003lqk.2	+	5	1255	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	PCYOX1L_uc003lql.2_Missense_Mutation_p.S381F|PCYOX1L_uc010jgz.2_Missense_Mutation_p.S322F|PCYOX1L_uc003lqm.2_Missense_Mutation_p.S280F|PCYOX1L_uc003lqn.2_Missense_Mutation_p.S308F	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.	398					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	p.S398F(2)		breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGTCCAGTCCCCCAAGCCC	0.597000											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		156			26		0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47200991	47200991	+	Splice_Site	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:47200991A>G	uc002pfh.3	-	9	1581	c.1239_splice	c.e9+1	p.L413_splice	PRKD2_uc002pfg.3_Splice_Site_p.L256_splice|PRKD2_uc002pfi.3_Splice_Site_p.L413_splice|PRKD2_uc002pfj.3_Splice_Site_p.L413_splice|PRKD2_uc010xye.2_Splice_Site_p.L413_splice|PRKD2_uc002pfk.3_Splice_Site_p.L256_splice	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	413	PH.				T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		gccACTCACCAGCGTGTCCTT	0.662000														89			37		0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41774231	41774231	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:41774231C>T	uc003ori.3	-	3	713	c.491G>A	c.(490-492)cGg>cAg	p.R164Q		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	164					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGCCTGGCCCCGGGAGCTCTT	0.721000														31			6		0	0	1	0	0
PLA2G2E	30814	broad.mit.edu	37	1	20249114	20249114	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:20249114C>T	uc001bct.1	-	1	233	c.175G>A	c.(175-177)Gac>Aac	p.D59N		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	Homo sapiens phospholipase A2, group IIE (PLA2G2E), mRNA.	59					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCACCAGTCAGTCTGGTCC	0.627000														59			25		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639261	7639261	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7639261C>T	uc001qsz.3	-	9	2420	c.2292G>A	c.(2290-2292)gaG>gaA	p.E764E	CD163_uc001qta.3_Silent_p.E764E|CD163_uc009zfw.2_Silent_p.E797E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	764	SRCR 7.				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						CATTAATGGCCTCTCCACAGC	0.532000														186			60		0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42300634	42300634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42300634C>T	uc002orn.1	+	0	101	c.25C>T	c.(25-27)Cac>Tac	p.H9Y	CEACAM3_uc010eia.1_Missense_Mutation_p.H9Y|CEACAM3_uc002oro.1_Non-coding_Transcript	NM_001815	NP_001806	P40198	CEAM3_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.	9						integral to membrane		p.H9Y(2)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						AGCCTCTCCCCACAGAGAATG	0.602000														43			25		0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	136969778	136969778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:136969778C>T	uc010jek.3	-	11	1842	c.1398G>A	c.(1396-1398)gcG>gcA	p.A466A	KLHL3_uc011cyc.2_Silent_p.A201A|KLHL3_uc003lbr.4_Silent_p.A384A|KLHL3_uc011cyd.2_Intron|KLHL3_uc010jel.1_Silent_p.A201A	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	466						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		ATTCATTGGTCGCTGGGTTGT	0.552000														124			23		0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118314941	118314941	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:118314941C>T	uc001lcm.3	+	7	776	c.733C>T	c.(733-735)Cca>Tca	p.P245S		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	245					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	p.P245A(3)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AGATTTCTTTCCAAATGGAGG	0.388000														117			54		0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39304389	39304389	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:39304389G>A	uc003gty.2	-	16	2451	c.2311C>T	c.(2311-2313)Cgt>Tgt	p.R771C	RFC1_uc003gtx.2_Missense_Mutation_p.R770C	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	771					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTTTGAAAACGAAGATCAAAA	0.318000														59			16		0	0	1	0	0
ZDHHC8P1	150244	broad.mit.edu	37	22	23742538	23742538	+	RNA	SNP	C	T	T	rs743353	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:23742538C>T	uc002zxa.4	-	2		c.598G>A			ZDHHC8P1_uc002zxb.4_Non-coding_Transcript|ZDHHC8P1_uc002zwz.4_Non-coding_Transcript					Homo sapiens zinc finger, DHHC-type containing 8 pseudogene 1 (ZDHHC8P1), non-coding RNA.																		GGCCCACCCTCGGAGCACAGG	0.627000														18			4		0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510452	56510452	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56510452G>A	uc010rjo.2	-	0	836	c.836C>T	c.(835-837)tCc>tTc	p.S279F		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGAGTAGGTGGAACTAGGCCT	0.468000														85			36		0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156619309	156619309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:156619309G>A	uc010lqn.3	-	3	524	c.309C>T	c.(307-309)tcC>tcT	p.S103S	LMBR1_uc003wmw.4_Silent_p.S103S|LMBR1_uc003wmx.4_5'UTR|LMBR1_uc011kvx.2_Silent_p.S82S	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	103						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		CATGAATCAGGGAGCCATTTA	0.323000														8			8		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627270	140627270	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140627270C>T	uc003lje.3	+	0	2124	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	708					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCCTGTTCGTGGCAGTGC	0.677000														265			54		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36330297	36330297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36330297C>T	uc002oby.3	-	21	3107	c.2951G>A	c.(2950-2952)gGg>gAg	p.G984E	NPHS1_uc010eem.1_Non-coding_Transcript	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	984	Fibronectin type-III.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATAGTGGAACCCTGGAGTCCC	0.577000														62			19		0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94878997	94878997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:94878997G>A	uc003klb.3	-	4	422	c.125C>T	c.(124-126)gCc>gTc	p.A42V	TTC37_uc010jbf.2_Intron	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	42							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AAAAACCCAGGCATTATAGTT	0.353000														127			16		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119750854	119750854	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:119750854G>A	uc002tln.1	+	15	1539	c.1407G>A	c.(1405-1407)agG>agA	p.R469R	MARCO_uc010yyf.1_Silent_p.R391R	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	469	SRCR.				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						CCAAAGGAAGGGCCCTGTACA	0.542000														97			27		0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60242139	60242139	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:60242139C>T	uc002lip.4	+	12	2825	c.2825C>T	c.(2824-2826)tCt>tTt	p.S942F	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Missense_Mutation_p.S412F	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	942					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCAGCAACTTCTCCCCAGCCA	0.652000														106			8		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54535276	54535277	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:54535276_54535277CC>TT	uc002iun.1	+	12	1537_1538	c.1502_1503CC>TT	c.(1501-1503)tcc>tTT	p.S501F		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	501										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATACCAATATCCTCATCCTCAT	0.500000														75			35		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044729	56044729	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:56044729G>A	uc003pcs.3	-	2	519	c.287C>T	c.(286-288)tCa>tTa	p.S96L	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.S96L|COL21A1_uc003pcu.1_Missense_Mutation_p.S96L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	96	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATGTTCTCCTGAATCATAGCT	0.448000														36			9		0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143995719	143995719	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:143995719C>A	uc003yxk.1	-	4	918	c.915G>T	c.(913-915)aaG>aaT	p.K305N		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	305					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.I304T(1)|p.I304F(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)	TAGAGTTGGCCTTGATGGCTT	0.587000									Familial Hyperaldosteronism type I					24			17		1.00905e-13	1.01369e-13	1	1	0
VPS8	23355	broad.mit.edu	37	3	184580816	184580816	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:184580816C>T	uc021xik.1	+	14	1444	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	VPS8_uc003fpb.1_Silent_p.F450F|VPS8_uc010hyd.1_Silent_p.F450F	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	452							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GCAGCCATTTCAAATCACTAG	0.408000														121			59		0	0	1	0	0
CD81	975	broad.mit.edu	37	11	2415372	2415372	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:2415372T>G	uc001lwf.1	+	2	462	c.229T>G	c.(229-231)Ttc>Gtc	p.F77V		NM_004356	NP_004347	P60033	CD81_HUMAN	Homo sapiens CD81 molecule (CD81), mRNA.	77					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTTCGTTGGCTTCCTGGGCTG	0.662000														47			18		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125876306	125876306	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:125876306C>T	uc003eim.1	-	3	598	c.408G>A	c.(406-408)tgG>tgA	p.W136*	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.3_5'Flank|ALDH1L1_uc010hsf.1_Nonsense_Mutation_p.W162*|ALDH1L1_uc003eip.1_Nonsense_Mutation_p.W45*|ALDH1L1_uc011bkj.1_5'UTR	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	136	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CATCATCCGCCCAGAAGATGG	0.572000														110			30		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455470	84455470	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:84455470G>A	uc001vlk.3	-	0	1059	c.173C>T	c.(172-174)tCc>tTc	p.S58F		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	58						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTAAAACTGGGAAGTCGGGGC	0.433000														78			17		0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14160012	14160012	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:14160012C>T	uc002mxx.3	+	9	1711	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	430	Fibronectin type-III 3.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						AGATGCCCCTCCAGGGACCCC	0.647000											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			21		0	0	1	0	0
FAM9A	171482	broad.mit.edu	37	X	8763148	8763148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:8763148C>T	uc022bsk.1	-	6	938	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	FAM9A_uc004csg.3_Missense_Mutation_p.E268K	NM_001171186	NP_777611	Q8IZU1	FAM9A_HUMAN	Homo sapiens family with sequence similarity 9, member A (FAM9A), transcript variant 1, mRNA.	268	Glu-rich.					nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				tcttcttcttcttcctcttcc	0.418000														9			11		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90129103	90129103	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90129103C>T	uc002boe.3	+	3	1341	c.1341C>T	c.(1339-1341)tcC>tcT	p.S447S	C15orf42_uc021sug.1_Silent_p.S446S	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	447					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ACACAGCTTCCCTTTTCTCAG	0.478000														140			15		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104081828	104081828	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:104081828G>A	uc003hxb.1	-	20	2330	c.2240C>T	c.(2239-2241)tCa>tTa	p.S747L	CENPE_uc003hxc.1_Missense_Mutation_p.S722L	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	747					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTCAATTCTGAAAGCAAAAT	0.323000														94			13		0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128269	56128269	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56128269C>T	uc010rjh.2	+	0	579	c.547C>T	c.(547-549)Cct>Tct	p.P183S		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGATAATGTTCCTCTGTTAGC	0.338000														54			24		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141108493	141108493	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141108493C>T	uc002tvj.1	-	76	12737	c.11765G>A	c.(11764-11766)aGa>aAa	p.R3922K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3922					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R3922I(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCTGTTATTCTTGAATTATG	0.343000										TSP Lung(27;0.18)				146			15		0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32126220	32126220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32126220C>T	uc001btk.1	-	61	4210	c.3845G>A	c.(3844-3846)gGa>gAa	p.G1282E	COL16A1_uc001btj.1_Missense_Mutation_p.G1080E	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1282	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCCTGGGGTCCCATGGCACC	0.557000														88			25		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75442037	75442037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:75442037G>A	uc001sxg.1	-	3	2220	c.1676C>T	c.(1675-1677)cCc>cTc	p.P559L	KCNC2_uc009zry.3_Missense_Mutation_p.P559L|KCNC2_uc001sxe.3_Missense_Mutation_p.P559L|KCNC2_uc001sxf.3_Intron|KCNC2_uc010stw.1_Intron	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	559					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GCGTCTGATGGGGAGCCTTTC	0.507000														67			49		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018992	161018992	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161018992C>T	uc001fxl.3	-	11	2165	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	ARHGAP30_uc001fxk.3_Missense_Mutation_p.E607K|ARHGAP30_uc001fxm.3_Missense_Mutation_p.E453K|ARHGAP30_uc009wtx.3_Missense_Mutation_p.E280K|ARHGAP30_uc001fxn.1_Missense_Mutation_p.E453K	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	607					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGGAAAACTTCCTCCCCATTT	0.572000														153			68		0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159680709	159680709	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:159680709G>A	uc003lyb.1	-	6	1236	c.984C>T	c.(982-984)ttC>ttT	p.F328F	CCNJL_uc011dee.1_Silent_p.F280F|CCNJL_uc003lyc.1_Non-coding_Transcript	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	328						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGTGGCTGGAACAGCACTT	0.642000														44			16		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2659792	2659792	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2659792G>A	uc009zdy.1	+	3	451	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Intron|CACNA1C_uc001qkj.2_Intron|CACNA1C_uc001qkk.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Intron|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc009zdu.1_Intron|CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc001qkv.1_Intron			Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 14, mRNA.	494					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCCTCTGGAAGAACTGCAAAC	0.577000														19			4		0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205632186	205632186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205632186G>A	uc001hda.1	-	2	1072	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Missense_Mutation_p.R79W|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	245					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AAGCGGGCCCGGCATGGACAG	0.716000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									22			11		0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53911378	53911378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:53911378G>A	uc003dhd.3	-	4	648	c.547C>T	c.(547-549)Cac>Tac	p.H183Y	ACTR8_uc003dhb.3_5'UTR|ACTR8_uc003dhc.3_Missense_Mutation_p.H72Y	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	183					DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	p.I182N(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ATAGGCCAGTGAATATTGTAA	0.423000														61			24		0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118824028	118824028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:118824028C>T	uc003eby.3	-	2	393	c.12G>A	c.(10-12)gtG>gtA	p.V4V	IGSF11_uc003ebz.3_Silent_p.V4V|IGSF11_uc010hqs.3_Silent_p.V4V	NM_152538	NP_689751	Q5DX21	IGS11_HUMAN	Homo sapiens immunoglobulin superfamily, member 11 (IGSF11), transcript variant 1, mRNA.	0					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCAAAAGTTCCACCAGAGACA	0.348000														78			14		0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62398280	62398281	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62398280_62398281GG>AA	uc001nua.3	-	11	1277_1278	c.1244_1245CC>TT	c.(1243-1245)tcc>tTT	p.S415F	GANAB_uc001nub.3_Missense_Mutation_p.S393F|GANAB_uc001nuc.3_Missense_Mutation_p.S296F|GANAB_uc010rma.2_Missense_Mutation_p.S301F|GANAB_uc010rmb.2_Missense_Mutation_p.S279F	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	393					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GGTAGCCGAGGGAGAAGAGTGG	0.579000														22			7		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81719638	81719638	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81719638C>T	uc001szo.2	-	21	2721	c.2560G>A	c.(2560-2562)Gag>Aag	p.E854K	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E780K|PPFIA2_uc021rbh.1_Missense_Mutation_p.E755K|PPFIA2_uc021rbi.1_Missense_Mutation_p.E854K|PPFIA2_uc021rbj.1_Missense_Mutation_p.E854K|PPFIA2_uc021rbk.1_Missense_Mutation_p.E836K|PPFIA2_uc021rbl.1_Missense_Mutation_p.E854K|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.E421K|PPFIA2_uc021rbf.1_Missense_Mutation_p.E71K	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	780										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCTTCAGTCTCCATAAAGCCT	0.423000														36			9		0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144128271	144128271	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:144128271G>A	uc010khi.3	+	12	2121	c.1922_splice	c.e12+1	p.R641_splice	PHACTR2_uc003qjq.4_Splice_Site_p.R630_splice|PHACTR2_uc010khh.3_Splice_Site_p.R550_splice|PHACTR2_uc003qjr.4_Splice_Site_p.R561_splice	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	630							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AGTTTACAAGGTAGGTGACAA	0.313000														27			28		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435691	158435691	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158435691C>T	uc010pij.2	+	0	340	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCACTCCTTCCTGCTGGCAGC	0.527000														176			38		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400019	89400019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89400019G>A	uc010upo.1	+	11	4577	c.4203G>A	c.(4201-4203)gaG>gaA	p.E1401E	ACAN_uc010upp.1_Silent_p.E1401E|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1401					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)			AAGTTCTAGAGACTACTGCCC	0.542000														165			104		0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48477508	48477508	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48477508G>A	uc001rqx.3	-	5	864	c.418C>T	c.(418-420)Cac>Tac	p.H140Y	SENP1_uc001rqw.3_Missense_Mutation_p.H140Y|SENP1_uc001rqy.3_5'UTR|SENP1_uc001rqz.3_5'UTR|SENP1_uc009zkx.3_Missense_Mutation_p.H140Y	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	140	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	SUMO-specific protease activity|endopeptidase activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				ACATGGCAGTGATGGTTTGAC	0.358000														70			32		0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945434	119945434	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:119945434G>A	uc003yon.4	-	1	459	c.136C>T	c.(136-138)Cct>Tct	p.P46S	TNFRSF11B_uc010mdc.1_Non-coding_Transcript	NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	46					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TAGGTACCAGGAGGACATTTG	0.498000														235			57		0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34528852	34528852	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34528852G>A	uc002xek.1	+	16	2890	c.2779G>A	c.(2779-2781)Ggt>Agt	p.G927S		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	927					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GCTGGACAGAGGTGGAGAGGG	0.532000														89			41		0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79939559	79939559	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:79939559G>A	uc004edt.3	-	36	4446	c.4183C>T	c.(4183-4185)Cgc>Tgc	p.R1395C	BRWD3_uc010nmi.2_Intron|BRWD3_uc004edp.3_Missense_Mutation_p.R1224C|BRWD3_uc004edq.3_Missense_Mutation_p.R991C|BRWD3_uc010nmj.2_Missense_Mutation_p.R991C|BRWD3_uc004edr.3_Missense_Mutation_p.R1065C|BRWD3_uc004eds.3_Missense_Mutation_p.R991C|BRWD3_uc004edo.3_Missense_Mutation_p.R991C|BRWD3_uc004edu.3_Missense_Mutation_p.R1065C|BRWD3_uc004edv.3_Missense_Mutation_p.R991C|BRWD3_uc004edw.3_Missense_Mutation_p.R991C|BRWD3_uc004edx.3_Missense_Mutation_p.R991C|BRWD3_uc004edy.3_Missense_Mutation_p.R991C|BRWD3_uc004edz.3_Missense_Mutation_p.R1065C|BRWD3_uc004eea.3_Missense_Mutation_p.R1065C|BRWD3_uc004eeb.3_Missense_Mutation_p.R991C	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1395	Bromo 2.									breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AATATTTGGCGAACATCCTTA	0.348000														42			11		0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72316862	72316862	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:72316862C>T	uc001swu.3	+	17	2029	c.1954C>T	c.(1954-1956)Cct>Tct	p.P652S	TBC1D15_uc001sww.3_Missense_Mutation_p.P406S|TBC1D15_uc010stt.2_Missense_Mutation_p.P643S|TBC1D15_uc001swv.3_Missense_Mutation_p.P635S	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	Homo sapiens TBC1 domain family, member 15 (TBC1D15), transcript variant 1, mRNA.	652							Rab GTPase activator activity|protein binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGTCATGACTCCTTGTCCTAC	0.473000														121			49		0	0	1	0	0
FBXL21	26223	broad.mit.edu	37	5	135277309	135277309	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:135277309C>T	uc021ydv.1	+	7		c.1736C>T			FBXL21_uc003lbc.3_Intron|FBXL21_uc021ydx.1_Non-coding_Transcript	NM_012159		Q9UKT6	FXL21_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA.						rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			large_intestine(5)|lung(4)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACACTGAAGTCTCCAAATACC	0.403000														35			10		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603157	111603157	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:111603157G>A	uc010hqa.3	+	1	644	c.233G>A	c.(232-234)aGt>aAt	p.S78N	PHLDB2_uc003dyc.3_Missense_Mutation_p.S105N|PHLDB2_uc003dyd.3_Missense_Mutation_p.S78N|PHLDB2_uc003dyg.3_Missense_Mutation_p.S78N|PHLDB2_uc003dyh.3_Missense_Mutation_p.S78N|PHLDB2_uc003dye.4_Missense_Mutation_p.S78N|PHLDB2_uc003dyf.4_Missense_Mutation_p.S78N	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	78						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TTGGGAACCAGTGTCAGAAGC	0.453000														258			24		0	0	1	0	0
RSBN1L	222194	broad.mit.edu	37	7	77402549	77402549	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:77402549C>T	uc010ldt.1	+	5	1755	c.1711C>T	c.(1711-1713)Cat>Tat	p.H571Y		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	571						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GACAAGAGCTCATGCAGATCA	0.423000														66			28		0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104136527	104136527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104136527C>T	uc001kux.2	+	31	4549	c.4255C>T	c.(4255-4257)Cgg>Tgg	p.R1419W	GBF1_uc001kuy.2_Missense_Mutation_p.R1419W|GBF1_uc001kuz.2_Missense_Mutation_p.R1420W	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1419					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAAGACTCTCCGGATCTTTGT	0.552000														70			19		0	0	1	0	0
RCC1	1104	broad.mit.edu	37	1	28861653	28861654	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:28861653_28861654CC>TT	uc001bqb.2	+	7	932_933	c.533_534CC>TT	c.(532-534)gcc>gTT	p.A178V	RCC1_uc001bqa.2_Missense_Mutation_p.A178V|RCC1_uc001bqc.2_Missense_Mutation_p.A178V|RCC1_uc001bqe.2_Missense_Mutation_p.A195V|RCC1_uc001bqf.2_Missense_Mutation_p.A209V|RCC1_uc001bqg.2_Missense_Mutation_p.A178V	NM_001269	NP_001260	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA.	178					G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GTAAAGGTGGCCTCAGGTGGGT	0.579000														73			17		0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19470440	19470440	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:19470440G>A	uc002gvx.3	+	13	1294	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	SLC47A1_uc002gvy.1_Missense_Mutation_p.G403E|SLC47A1_uc010vyz.1_Missense_Mutation_p.G380E|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.G208E|SLC47A1_uc010vza.1_Missense_Mutation_p.G115E|SLC47A1_uc010vzb.1_Missense_Mutation_p.G137E|SLC47A1_uc010vzc.1_Missense_Mutation_p.G75E	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	403						integral to membrane|plasma membrane	drug:hydrogen antiporter activity	p.S402G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					AGGGGGAGTGGAAATCAGAAG	0.542000														83			65		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136596793	136596793	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:136596793G>A	uc003qgx.1	-	5	1982	c.1729C>T	c.(1729-1731)Cat>Tat	p.H577Y	BCLAF1_uc003qgy.1_Missense_Mutation_p.H575Y|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.H575Y|BCLAF1_uc003qgw.1_Missense_Mutation_p.H404Y	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	577					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGACAGAATGGACAAGTGTA	0.398000														189			17		0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3655674	3655674	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3655674C>T	uc002wit.3	-	4	420	c.333_splice	c.e4+1	p.T111_splice	ADAM33_uc002wir.1_Splice_Site_p.T111_splice|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Splice_Site_p.T111_splice|ADAM33_uc002wiw.1_Non-coding_Transcript|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Silent_p.T110T|ADAM33_uc010zqg.1_Silent_p.T110T|ADAM33_uc010zqh.1_Splice_Site_p.T111_splice	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	111					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						AGCATCTCACCGTGTGGTTGG	0.622000														34			6		0	0	1	0	0
C1QC	714	broad.mit.edu	37	1	22974025	22974025	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22974025C>T	uc001bgc.4	+	2	590	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S	C1QC_uc001bga.4_Missense_Mutation_p.P163S	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	163	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)	CTGCAAAGTCCCCGGCCTCTA	0.592000														46			14		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77691837	77691837	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77691837G>A	uc011cbx.2	+	9	6361	c.5408G>A	c.(5407-5409)aGc>aAc	p.S1803N	SHROOM3_uc003hkg.3_Missense_Mutation_p.S1581N	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1803	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCGAAGGGGAGCCTGCTCACG	0.547000														88			26		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186669961	186669961	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:186669961G>A	uc002upl.3	+	16	16195	c.16195G>A	c.(16195-16197)Ggc>Agc	p.G5399S	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGATATTATGGGCTTGGCTCT	0.308000														133			58		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44560392	44560392	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44560392C>T	uc003tlb.3	-	13	3164	c.3108G>A	c.(3106-3108)gtG>gtA	p.V1036V	NPC1L1_uc011kbw.2_Silent_p.V990V|NPC1L1_uc003tlc.3_Silent_p.V1036V|NPC1L1_uc003tla.3_Silent_p.V39V	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1036					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)	AAGTCAAGTTCACAGAGGTGC	0.577000														88			24		0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54420804	54420804	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:54420804G>A	uc003jpo.2	-	8	1219	c.1042C>T	c.(1042-1044)Cat>Tat	p.H348Y	CDC20B_uc003jpn.2_Missense_Mutation_p.H348Y|CDC20B_uc010ivu.2_Missense_Mutation_p.H348Y|CDC20B_uc010ivv.2_3'UTR	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	348										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GTTCCAACATGATGCTGGGCT	0.498000														75			35		0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172644360	172644360	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:172644360G>A	uc002uhh.2	-	15	1772	c.1683C>T	c.(1681-1683)atC>atT	p.I561I	SLC25A12_uc010fqh.2_Silent_p.I454I	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	561					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TGAAACAGTCGATGACACCAC	0.577000														58			25		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118165285	118165285	+	Missense_Mutation	SNP	C	T	T	rs148780595		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:118165285C>T	uc003yoh.3	+	2	604	c.374C>T	c.(373-375)tCg>tTg	p.S125L	SLC30A8_uc010mcz.3_Missense_Mutation_p.S76L|SLC30A8_uc003yog.3_Missense_Mutation_p.S76L|SLC30A8_uc011lia.2_Missense_Mutation_p.S76L|SLC30A8_uc022bab.1_Missense_Mutation_p.S76L	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	125					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.S125*(4)		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)			TGGTTGTCATCGAAGCCTCCC	0.527000														36			15		0	0	1	0	0
ZCCHC24	219654	broad.mit.edu	37	10	81192318	81192318	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81192318G>A	uc001kak.3	-	1	630	c.443C>T	c.(442-444)cCc>cTc	p.P148L	ZCCHC24_uc010qlr.2_Silent_p.P88P|ZCCHC24_uc009xrw.3_Non-coding_Transcript	NM_153367	NP_699198	Q8N2G6	ZCH24_HUMAN	Homo sapiens zinc finger, CCHC domain containing 24 (ZCCHC24), mRNA.	148							nucleic acid binding|zinc ion binding	p.C147Y(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						CCTTACCTGGGGGCAGTCCTT	0.652000														37			15		0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26586715	26586715	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:26586715T>A	uc001mqw.3	-	2	1045	c.772A>T	c.(772-774)Aaa>Taa	p.K258*	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Nonsense_Mutation_p.K231*|MUC15_uc001mqy.3_Nonsense_Mutation_p.K258*	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	231						extracellular region|integral to membrane|plasma membrane		p.Y258Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TATTTACCTTTTTGGGGATCT	0.338000														105			23		0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135919191	135919191	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135919191C>T	uc004ccj.4	+	2	787	c.450C>T	c.(448-450)ctC>ctT	p.L150L	GTF3C5_uc010mzz.2_Silent_p.L25L|GTF3C5_uc004cci.4_Silent_p.L150L	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	150						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		ACAAGGTGCTCATGCTCCGGC	0.582000														114			14		0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39721990	39721990	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:39721990G>A	uc001wux.3	+	4	1800	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K		NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	145						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GAGAATTCACGAAGAAGTATA	0.378000														89			27		0	0	1	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67220438	67220438	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:67220438G>A	uc001dcv.3	+	1	228	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	TCTEX1D1_uc009wau.3_Non-coding_Transcript|TCTEX1D1_uc009wav.3_Non-coding_Transcript	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN	Homo sapiens Tctex1 domain containing 1 (TCTEX1D1), mRNA.	33								p.E33K(2)		large_intestine(2)|lung(10)|skin(1)	13						TTGGCGAAAGGAAATTCATGG	0.338000														40			11		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400212	47400212	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47400212C>T	uc001cqp.4	-	6	861	c.810G>A	c.(808-810)agG>agA	p.R270R	CYP4A11_uc001cqq.2_Silent_p.R270R|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	270					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GTTGAGCCTTCCTCAGTTGGA	0.532000														89			29		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805618	54805618	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:54805618C>T	uc003pck.3	+	4	1965	c.1849C>T	c.(1849-1851)Cct>Tct	p.P617S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	617										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTTGCAGGTTCCTGAAAACCA	0.413000														69			20		0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118514600	118514600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118514600C>T	uc001ptr.2	+	14	3313	c.2960C>T	c.(2959-2961)tCt>tTt	p.S987F	PHLDB1_uc001pts.3_Missense_Mutation_p.S987F|PHLDB1_uc001ptt.3_Missense_Mutation_p.S940F|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Missense_Mutation_p.S787F|PHLDB1_uc001ptw.2_Missense_Mutation_p.S342F|PHLDB1_uc009zai.2_Missense_Mutation_p.S23F|PHLDB1_uc001ptx.2_Missense_Mutation_p.S23F|PHLDB1_uc010ryi.1_Missense_Mutation_p.S130F|PHLDB1_uc010ryj.1_Missense_Mutation_p.S125F	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	987										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		tcctctggctcttcctcctcc	0.652000														43			29		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7683931	7683931	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:7683931C>T	uc021pmv.1	-	2	364	c.258G>A	c.(256-258)caG>caA	p.Q86Q	ITIH5_uc001ijr.2_Silent_p.Q86Q	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	86	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GAATCTGCATCTGGAACTCAA	0.483000														84			45		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540430	55540430	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55540430G>A	uc003xsd.1	+	3	4136	c.3988G>A	c.(3988-3990)Gat>Aat	p.D1330N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1330					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGCCCAATTGATGAGACCTA	0.393000														132			34		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33412082	33412082	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:33412082G>A	uc021vft.1	+	5	1384	c.1361G>A	c.(1360-1362)gGg>gAg	p.G454E	LTBP1_uc002rou.3_Missense_Mutation_p.G128E|LTBP1_uc002rov.3_Missense_Mutation_p.G128E|LTBP1_uc010ymz.2_Missense_Mutation_p.G128E|LTBP1_uc010yna.2_Missense_Mutation_p.G128E	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	454					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGGCGTTGGGGACGCATGTC	0.507000														52			15		0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61988009	61988009	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:61988009C>T	uc001vid.4	-	1	587	c.223G>A	c.(223-225)Gga>Aga	p.G75R	PCDH20_uc010thj.2_Missense_Mutation_p.G75R	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	48	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		GCGGGTAGTCCCTCGTTTAGG	0.652000														20			4		0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27151776	27151776	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:27151776G>A	uc003xfl.1	-	2	665	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	TRIM35_uc010lup.1_Missense_Mutation_p.R163C|TRIM35_uc003xfm.1_Non-coding_Transcript	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA.	195					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	p.R195C(2)		breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		AAGAACTCGCGAAGCTTATCA	0.577000														58			14		0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160719701	160719701	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160719701G>A	uc001fwq.3	+	2	482	c.467G>A	c.(466-468)gGg>gAg	p.G156E	SLAMF7_uc010pjn.2_Missense_Mutation_p.G49E|SLAMF7_uc001fws.3_Missense_Mutation_p.G49E|SLAMF7_uc001fwr.3_Missense_Mutation_p.G156E|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Missense_Mutation_p.G49E|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Missense_Mutation_p.G49E	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	156	Ig-like C2-type.				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGGAACATGGGGAAGAGGAT	0.522000														108			41		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43327114	43327114	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43327114G>A	uc002yzw.3	-	9	1547	c.1305C>T	c.(1303-1305)tcC>tcT	p.S435S	C2CD2_uc002yzt.3_Silent_p.S51S|C2CD2_uc002yzu.3_Silent_p.S267S|C2CD2_uc002yzv.3_Silent_p.S280S|C2CD2_uc002yzx.1_Silent_p.S280S	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	435						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						AGCTCAGCGGGGACGCCCTCC	0.582000														59			10		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857667	90857667	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:90857667C>T	uc003hst.3	+	5	2907	c.2836C>T	c.(2836-2838)Cct>Tct	p.P946S	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.P688S	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	946					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGCTACCATCCCTAAGTGGAT	0.363000														60			21		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181680128	181680128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181680128G>A	uc009wxt.3	+	7	1289	c.1094G>A	c.(1093-1095)aGg>aAg	p.R365K	CACNA1E_uc001gow.3_Missense_Mutation_p.R365K|CACNA1E_uc009wxs.3_Missense_Mutation_p.R365K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	365					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R364R(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						GAGAACCGAAGGGCTTTCATG	0.547000														91			28		0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125621339	125621339	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:125621339C>T	uc001uhc.3	+	16	2016	c.1810C>T	c.(1810-1812)Cgt>Tgt	p.R604C	AACS_uc001uhd.3_Intron|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_Missense_Mutation_p.R202C	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	604					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TAAGAGGATCCGTGACGCCAT	0.607000														72			16		0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163122409	163122409	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:163122409G>A	uc001gcn.3	-	3	653	c.315C>T	c.(313-315)tcC>tcT	p.S105S	RGS5_uc021pdu.1_5'UTR|RGS5_uc021pdt.1_Silent_p.S105S|RGS5_uc009wvb.3_5'UTR	NM_003617	NP_003608	O15539	RGS5_HUMAN	Homo sapiens regulator of G-protein signaling 5 (RGS5), transcript variant 1, mRNA.	105	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.S105S(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			TCTTGGCAGGGGACTTGATCT	0.448000														272			72		0	0	1	0	0
MAPK14	1432	broad.mit.edu	37	6	36040749	36040749	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:36040749C>T	uc003olq.3	+	3	886	c.405C>T	c.(403-405)ctC>ctT	p.L135L	MAPK14_uc011dth.2_Silent_p.L135L|MAPK14_uc003olo.3_Silent_p.L135L|MAPK14_uc003olp.3_Silent_p.L135L|MAPK14_uc003olr.3_Silent_p.L135L|MAPK14_uc011dti.2_Silent_p.L58L	NM_139012	NP_620581	Q16539	MK14_HUMAN	Homo sapiens mitogen-activated protein kinase 14 (MAPK14), transcript variant 2, mRNA.	135	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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|MAP kinase activity|MAP kinase kinase activity|protein binding	p.L135I(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						ACCAAATTCTCCGAGGTCTAA	0.378000														40			15		0	0	1	0	0
TXNRD2	10587	broad.mit.edu	37	22	19865928	19865928	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:19865928G>A	uc021wlj.1	-	14	1341	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Silent_p.F435F|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqq.1_Silent_p.F86F	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	436					cell redox homeostasis|response to oxygen radical	mitochondrion	NADP binding|flavin adenine dinucleotide binding|thioredoxin-disulfide reductase activity	p.E435*(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CAGCCACCGTGAACTCCAGTG	0.562000														170			78		0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32445998	32445998	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:32445998G>A	uc003amc.3	+	1	454	c.204G>A	c.(202-204)tgG>tgA	p.W68*		NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	68					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TGGTGTGGTGGCCGGTAAGTT	0.453000														165			106		0	0	1	0	0
TRAF7	84231	broad.mit.edu	37	16	2222201	2222201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2222201C>T	uc002cow.3	+	7	584	c.485C>T	c.(484-486)cCc>cTc	p.P162L		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA.	162					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						GAGAAGTGTCCCGTGGACAAC	0.652000														22			5		0	0	1	0	0
MARC1	64757	broad.mit.edu	37	1	220971262	220971262	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:220971262C>T	uc001hmt.3	+	3	907	c.659C>T	c.(658-660)tCg>tTg	p.S220L	MARC1_uc001hms.3_Missense_Mutation_p.S220L	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA.	220	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	p.S220W(1)									TCTGAGGCGTCGCTGGCGGAT	0.438000														138			14		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43411806	43411806	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43411806C>T	uc002ovj.1	-	3	1006	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.E143K|PSG4_uc002ovg.1_Missense_Mutation_p.E303K	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	304	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGTCCTGTTTCATTTCTCGTG	0.493000														248			105		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542542	133542542	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:133542542C>T	uc002ttp.3	-	13	2216	c.1842G>A	c.(1840-1842)gtG>gtA	p.V614V	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	614							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCAGGTTCTCCACGGACTTAT	0.483000														44			19		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156955916	156955916	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156955916G>T	uc001fqo.3	-	1	1122	c.82C>A	c.(82-84)Cct>Act	p.P28T	ARHGEF11_uc001fqn.3_Missense_Mutation_p.P28T	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	28					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGTGGGAAGGGGACTTGCGC	0.532000														83			32		3.03874e-20	3.05586e-20	1	1	0
LMX1A	4009	broad.mit.edu	37	1	165175145	165175145	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:165175145C>T	uc001gcz.2	-	7	1138	c.944G>A	c.(943-945)gGt>gAt	p.G315D	LMX1A_uc021pdz.1_Missense_Mutation_p.G315D|LMX1A_uc021pdy.1_Missense_Mutation_p.G66D|LMX1A_uc001gcw.2_Missense_Mutation_p.G33D	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	315						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TGGGGTGAGACCCTGTCGGAA	0.577000														57			28		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126328133	126328133	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126328133G>A	uc003ifj.4	+	2	5406	c.5406G>A	c.(5404-5406)ttG>ttA	p.L1802L	FAT4_uc011cgp.2_Silent_p.L100L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1802	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R1801Q(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGGCGGTTGGACAGGGAAC	0.468000														131			56		0	0	1	0	0
KLK2	3817	broad.mit.edu	37	19	51378008	51378008	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51378008G>A	uc002ptv.3	+	1	119	c.78G>A	c.(76-78)gtG>gtA	p.V26V	KLK2_uc010eog.3_Intron|KLK2_uc010yck.2_Silent_p.V26V|KLK2_uc002ptt.3_Non-coding_Transcript|KLK2_uc010ycl.2_5'UTR|KLK2_uc010ycm.2_Intron|KLK2_uc002ptu.3_Silent_p.V26V	NM_005551	NP_005542	P20151	KLK2_HUMAN	Homo sapiens kallikrein-related peptidase 2 (KLK2), transcript variant 1, mRNA.	26	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CTCGGATTGTGGGAGGCTGGG	0.622000			T	ETV4	prostate									55			13		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371800	126371800	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126371800G>A	uc003ifj.4	+	8	9629	c.9629G>A	c.(9628-9630)gGa>gAa	p.G3210E	FAT4_uc011cgp.2_Missense_Mutation_p.G1508E|FAT4_uc003ifi.1_Missense_Mutation_p.G688E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3210	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCCCAAGTGGAACAACAGTT	0.408000														89			44		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6697782	6697782	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6697782C>T	uc002mfm.3	-	19	2526	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	822					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACTGTGACCTCGAAGGGGTCT	0.562000														40			5		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228474494	228474494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228474494C>T	uc009xez.1	+	34	9342	c.9298C>T	c.(9298-9300)Cgg>Tgg	p.R3100W	OBSCN_uc001hsn.3_Missense_Mutation_p.R3100W|OBSCN_uc001hsq.1_Missense_Mutation_p.R356W	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3100	Ig-like 31.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGTCTTCTCCCGGGAGCTCAC	0.612000														42			20		0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45554637	45554637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:45554637C>T	uc003cop.1	+	15	1956	c.1771C>T	c.(1771-1773)Cat>Tat	p.H591Y	LARS2_uc010hit.1_Missense_Mutation_p.H548Y	NM_015340	NP_056155	Q15031	SYLM_HUMAN	Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA.	591					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	GGAGCCTTTTCATAAGCTGCT	0.512000														154			15		0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161524820	161524820	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:161524820G>A	uc010jjc.3	+	3	862	c.504G>A	c.(502-504)agG>agA	p.R168R	GABRG2_uc003lyy.4_Silent_p.R168R|GABRG2_uc003lyz.4_Silent_p.R168R|GABRG2_uc011dej.2_Silent_p.R73R	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	168					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			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)		CCCCCAACAGGATGCTGAGAA	0.418000														85			34		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69816910	69816910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69816910G>A	uc003hef.2	-	0	600	c.569C>T	c.(568-570)tCc>tTc	p.S190F	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	190						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGTACATAGGAAAGTGGAGC	0.438000														48			21		0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111866190	111866190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:111866190G>A	uc001pml.3	+	16	1885	c.1588G>A	c.(1588-1590)Gat>Aat	p.D530N	DIXDC1_uc001pmm.3_Missense_Mutation_p.D319N|DIXDC1_uc001pmn.3_Missense_Mutation_p.D237N|DIXDC1_uc010rwq.2_Missense_Mutation_p.D196N	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1, mRNA.	531					Wnt receptor signaling pathway|multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CAGTGGCCACGATCCTCAGCA	0.542000														66			28		0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2217047	2217047	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:2217047C>T	uc002lvc.1	+	6	1151	c.384C>T	c.(382-384)tcC>tcT	p.S128S	DOT1L_uc002lvb.4_Silent_p.S834S|AX746733_uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Silent_p.S128S	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	834						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)		GGCCCCTGTCCCCTGGGGCCT	0.677000														42			16		0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18234369	18234369	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:18234369C>T	uc001rdq.3	-	5	568	c.374G>A	c.(373-375)cGa>cAa	p.R125Q		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	125	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						ACAAAGATCTCGTTTGTTGCC	0.408000														83			35		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896999	175896999	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:175896999G>A	uc003iuc.3	+	4	993	c.323G>A	c.(322-324)gGg>gAg	p.G108E	ADAM29_uc003iud.3_Missense_Mutation_p.G108E|ADAM29_uc010irr.3_Missense_Mutation_p.G108E|ADAM29_uc011cki.2_Missense_Mutation_p.G108E|ADAM29_uc021xuo.1_Missense_Mutation_p.G108E	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	108					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TATGTGGAAGGGGACCCAGAA	0.453000														61			12		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86697752	86697752	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:86697752C>T	uc002blz.1	+	2	296	c.216C>T	c.(214-216)ctC>ctT	p.L72L		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	72					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						GCCAGAATCTCCTCCACTGTC	0.507000														22			20		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908686	103908686	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:103908686C>T	uc001phr.2	+	0	1379	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	379					proteolysis		aspartic-type endopeptidase activity	p.E378D(1)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CAAGATGAGTCTTCGGACAAG	0.463000														57			16		0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761311	55761311	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55761311G>A	uc010riv.2	-	0	791	c.791C>T	c.(790-792)tCc>tTc	p.S264F		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S263R(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGAGTAGCTGGAACTAGGTCT	0.498000														81			32		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35778739	35778739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:35778739G>A	uc011axy.2	+	13	1639	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	ARPP21_uc003cga.3_Missense_Mutation_p.R456Q|ARPP21_uc003cgb.3_Missense_Mutation_p.R510Q|ARPP21_uc003cgf.3_Missense_Mutation_p.R311Q|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	510						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAGCCCCTGCGAAGCGCCATG	0.612000														70			68		0	0	1	0	0
MMP11	4320	broad.mit.edu	37	22	24121450	24121450	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:24121450C>T	uc002zxx.3	+	1	207	c.185C>T	c.(184-186)gCc>gTc	p.A62V	MMP11_uc002zxy.3_Non-coding_Transcript	NM_005940	NP_005931	P24347	MMP11_HUMAN	Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA.	62					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				CCGGCACCTGCCCCTGCCACG	0.711000														15			11		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20658726	20658726	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:20658726C>T	uc001mqd.3	+	11	2019	c.1746C>T	c.(1744-1746)acC>acT	p.T582T	SLC6A5_uc009yic.3_Silent_p.T347T	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	582				T -> S (in Ref. 2; AAD27892).	synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGTTTGCCACCATCGAGACCA	0.493000														125			33		0	0	1	0	0
EIF4E1B	253314	broad.mit.edu	37	5	176072431	176072431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176072431G>A	uc010jkf.1	+	7	1112	c.528G>A	c.(526-528)ggG>ggA	p.G176G	TSPAN17_uc003mes.3_5'Flank|TSPAN17_uc003met.3_5'Flank|TSPAN17_uc003meu.3_5'Flank|TSPAN17_uc003mew.3_5'Flank	NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E family member 1B (EIF4E1B), mRNA.	176					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGTATGTGGGGCCGTCGTCA	0.617000														40			14		0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144875014	144875014	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144875014G>A	uc003yzp.1	-	29	4048	c.4041C>T	c.(4039-4041)gcC>gcT	p.A1347A	SCRIB_uc003yzn.1_Silent_p.A56A|SCRIB_uc003yzo.1_Silent_p.A1347A	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	1347	Pro-rich.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTCCGGGGAGGCTGCAGGCC	0.711000														18			10		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114176	147114176	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:147114176G>A	uc011bno.2	-	2	487	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	ZIC4_uc003ewc.2_5'UTR|ZIC4_uc021xff.1_Missense_Mutation_p.P89S|ZIC4_uc003ewd.2_Missense_Mutation_p.P51S|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	51						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GAGGCCTGGGGAGGCTCCTCG	0.687000														25			14		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172001634	172001634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:172001634C>T	uc001gie.3	+	4	858	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	DNM3_uc001gid.4_Missense_Mutation_p.R228C|DNM3_uc009wwb.2_Missense_Mutation_p.R228C|DNM3_uc001gif.3_Missense_Mutation_p.R228C	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	228					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GTTGCCTCTTCGCAGGGGTAA	0.393000														73			26		0	0	1	0	0
MST4	51765	broad.mit.edu	37	X	131206347	131206347	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:131206347C>T	uc004ewk.1	+	8	1285	c.984C>T	c.(982-984)acC>acT	p.T328T	MST4_uc004ewl.1_Silent_p.T251T|MST4_uc011mux.1_Silent_p.T350T|MST4_uc010nrj.1_Silent_p.T328T|MST4_uc004ewm.1_Silent_p.T266T	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	328					cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GCTTTACCACCGTACGAAAGA	0.403000														24			11		0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586117	20586118	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20586117_20586118CC>TT	uc001vwo.1	+	0	552_553	c.552_553CC>TT	c.(550-555)ctcctt>ctTTtt	p.L185F		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCTTGGGTCTCCTTCACTCAGG	0.446000														79			39		0	0	1	0	0
TMPPE	643853	broad.mit.edu	37	3	33134649	33134649	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:33134649G>A	uc003cfk.2	-	1	1251	c.1039C>T	c.(1039-1041)Cat>Tat	p.H347Y	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.H210Y|TMPPE_uc021wux.1_Missense_Mutation_p.H347Y	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN	Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.	347				H -> R (in Ref. 1; BAC87349).		integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						TCCATGCCATGGCCAGAGTAG	0.592000														131			39		0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70991597	70991597	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70991597G>A	uc021rvs.1	-	0	28	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S	ADAM20_uc001xme.3_Missense_Mutation_p.P10S	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	0					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GGGATCTGGGGATCTGTGTCC	0.532000														100			45		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158254056	158254056	+	Missense_Mutation	SNP	G	A	A	rs142538282	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:158254056G>A	uc003ipm.4	+	6	1427	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	GRIA2_uc011cit.2_Missense_Mutation_p.R276Q|GRIA2_uc003ipl.4_Missense_Mutation_p.R323Q|GRIA2_uc003ipk.4_Missense_Mutation_p.R276Q|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	323					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R323R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GAAATCTCCCGAAGGGGGAAT	0.478000														88			18		0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649270	75649270	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:75649270C>T	uc004ecm.2	+	0	1225	c.947C>T	c.(946-948)tCg>tTg	p.S316L		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	316	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GGTGAGGGATCGAGCACCTCC	0.711000														19			4		0	0	1	0	0
C12orf71	728858	broad.mit.edu	37	12	27235271	27235271	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:27235271G>A	uc001rhq.3	-	0	185	c.146C>T	c.(145-147)cCt>cTt	p.P49L		NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN	Homo sapiens chromosome 12 open reading frame 71 (C12orf71), mRNA.	49										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GTGGATGGAAGGACCCTTGGA	0.542000														34			8		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398577	89398577	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89398577G>A	uc010upo.1	+	11	3135	c.2761G>A	c.(2761-2763)Ggg>Agg	p.G921R	ACAN_uc010upp.1_Missense_Mutation_p.G921R|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	921					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)			ACTACCCTCAGGGGATGAAGA	0.587000														33			29		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32689700	32689700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:32689700C>T	uc010ezu.3	+	24	5199	c.5065C>T	c.(5065-5067)Cat>Tat	p.H1689Y		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	1689					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.V1688I(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATTCTTCATTCATCCATCTGA	0.488000														35			12		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277662	140277662	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:140277662C>T	uc003etn.3	+	11	2194	c.2004C>T	c.(2002-2004)ttC>ttT	p.F668F		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	668					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGAGCACCTTCGCCAAAACCG	0.532000										HNSCC(16;0.037)				56			20		0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91628487	91628487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:91628487G>A	uc004aqf.2	-	11	1967	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	554	SH2.			R -> Q (in Ref. 4; AAH26314).	Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TCCTTTGTCCGGATCTATGAA	0.488000														82			5		0	0	1	0	0
SECTM1	6398	broad.mit.edu	37	17	80285043	80285043	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:80285043G>A	uc002keo.3	-	1	472	c.74C>T	c.(73-75)tCc>tTc	p.S25F		NM_003004	NP_002995	Q8WVN6	SCTM1_HUMAN	Homo sapiens secreted and transmembrane 1 (SECTM1), mRNA.	25					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|extracellular space|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			AGCACTCAAGGAGGCAGCCAA	0.667000														16			5		0	0	1	0	0
ABI3	51225	broad.mit.edu	37	17	47295229	47295229	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:47295229G>A	uc002iop.1	+	2	912	c.414G>A	c.(412-414)agG>agA	p.R138R	ABI3_uc002ioq.1_Silent_p.R132R	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	138					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CCTACTGCAGGAGACCCCTCA	0.632000										HNSCC(55;0.14)				117			25		0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99441587	99441587	+	Silent	SNP	G	A	A	rs141454693	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:99441587G>A	uc003yin.3	+	1	1730	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	KCNS2_uc022azb.1_Silent_p.T460T	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	460						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CAAGCCTGACGAACATGAGCA	0.493000														82			40		0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58598337	58598338	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58598337_58598338CC>TT	uc010yht.1	-	4	878_879	c.848_849GG>AA	c.(847-849)ggg>gAA	p.G283E	ZSCAN18_uc002qrj.3_Missense_Mutation_p.G227E|ZSCAN18_uc010yhs.1_Missense_Mutation_p.G92E|ZSCAN18_uc002qrh.2_Missense_Mutation_p.G227E|ZSCAN18_uc002qri.2_Missense_Mutation_p.G227E|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	227					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCCCCACTCCCCCAGGTGCTG	0.644000														48			10		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142658103	142658103	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142658103G>A	uc003wcb.3	-	3	522	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	104					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGGCAAAGCTGAAGAAGTCGG	0.512000														136			35		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118997857	118997858	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:118997857_118997858CC>TT	uc004bjn.3	+	6	3054_3055	c.2673_2674CC>TT	c.(2671-2676)gaccct>gaTTct	p.P892S	PAPPA_uc011lxp.1_Missense_Mutation_p.P587S|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	892					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						TGGTCCGGGACCCTCCTCTCCA	0.505000														91			10		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125131980	125131980	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:125131980C>T	uc003yqw.3	+	40	5729	c.5523C>T	c.(5521-5523)ttC>ttT	p.F1841F	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1841						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			tcgtccttttcatcTACACCT	0.463000														137			34		0	0	1	0	0
NCK2	8440	broad.mit.edu	37	2	106509458	106509458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:106509458C>T	uc002tdg.3	+	4	1245	c.969C>T	c.(967-969)tcC>tcT	p.S323S	NCK2_uc002tdh.3_Missense_Mutation_p.P83S|NCK2_uc002tdi.3_Silent_p.S323S	NM_003581	NP_003572	O43639	NCK2_HUMAN	Homo sapiens NCK adaptor protein 2 (NCK2), transcript variant 1, mRNA.	323	SH2.				T cell activation|axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						TCTCCGTGTCCCTTAAAGCGT	0.567000														73			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179638073	179638073	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179638073G>A	uc021vsy.1	-	32	7843	c.7618C>T	c.(7618-7620)Cgt>Tgt	p.R2540C	TTN_uc021vsz.1_Missense_Mutation_p.R2494C|TTN_uc021vta.1_Missense_Mutation_p.R2494C|TTN_uc021vtb.1_Missense_Mutation_p.R2494C|TTN_uc002unb.2_Missense_Mutation_p.R2540C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2540							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R2494C(3)|p.R2540C(2)		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)			GTAAGGTCACGAAGACCTCTG	0.353000														68			22		0	0	1	0	0
C19orf75	284369	broad.mit.edu	37	19	51770657	51770657	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51770657G>A	uc002pwb.1	+	4	822	c.441G>A	c.(439-441)aaG>aaA	p.K147K	C19orf75_uc010eov.1_Non-coding_Transcript|C19orf75_uc010ycw.1_Silent_p.K53K	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	147						integral to membrane		p.A146A(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						AGCAGGCGAAGAAAGCTGCAG	0.468000														115			58		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030033	95030033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:95030033G>A	uc010avd.3	+	1	599	c.325G>A	c.(325-327)Ggg>Agg	p.G109R	SERPINA4_uc001ydk.3_Missense_Mutation_p.G72R|SERPINA4_uc001ydl.3_Missense_Mutation_p.G72R	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	72					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GGAGACCCCGGGGAAGAACAT	0.607000														74			32		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15290645	15290645	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15290645C>T	uc001iob.3	-	4	754	c.747G>A	c.(745-747)caG>caA	p.Q249Q		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	249						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TACCCAGCTTCTGGTCAAACC	0.557000														72			27		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60902947	60902947	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:60902947G>A	uc002ycq.3	-	35	4839	c.4772C>T	c.(4771-4773)cCc>cTc	p.P1591L	LAMA5_uc021wfw.1_Missense_Mutation_p.P1591L	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1591	Laminin EGF-like 15.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCTGTGAGGGGGTCACACAC	0.662000														45			27		0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2193006	2193006	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:2193006G>A	uc001lvq.3	-	0	30	c.11C>T	c.(10-12)cCc>cTc	p.P4L	TH_uc001lvp.3_Missense_Mutation_p.P4L|TH_uc001lvr.3_Missense_Mutation_p.P4L|TH_uc010qxj.2_Missense_Mutation_p.P4L|TH_uc001lvs.3_Missense_Mutation_p.P4L|TH_uc001lvt.3_Missense_Mutation_p.P4L|MIR4686_uc021qce.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	4					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GGTGGCGTCGGGGGTGGGCAT	0.662000														35			16		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72129198	72129198	+	Splice_Site	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:72129198A>T	uc003xyu.3	-	13	1839	c.1199_splice	c.e13+1	p.S400_splice	EYA1_uc003xyt.4_Splice_Site_p.S367_splice|EYA1_uc003xyr.4_Splice_Site_p.S365_splice|EYA1_uc010lzf.3_Splice_Site_p.S327_splice|EYA1_uc003xys.4_Splice_Site_p.S400_splice|EYA1_uc011lfe.2_Splice_Site_p.S394_splice|EYA1_uc003xyv.3_Splice_Site_p.S278_splice	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	400					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AAGGGTGCTCACCTTAGGTCC	0.358000														80			32		0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100129237	100129237	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:100129237C>T	uc010avs.3	+	5	1592	c.1527C>T	c.(1525-1527)aaC>aaT	p.N509N	HHIPL1_uc001ygl.1_Silent_p.N509N	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	509					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCCAAGAGAACCCAGGGACAG	0.572000														51			8		0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180381713	180381713	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:180381713C>T	uc010hxe.3	-	1	267	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	51					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGAATTAATTCGCTCTTCATA	0.328000														83			30		0	0	1	0	0
DIRC1	116093	broad.mit.edu	37	2	189599363	189599363	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189599363C>T	uc021vtu.1	-	0	285	c.285G>A	c.(283-285)tgG>tgA	p.W95*	DIRC1_uc002uqi.1_Nonsense_Mutation_p.W95*	NM_052952	NP_443184	Q969H9	DIRC1_HUMAN	Homo sapiens disrupted in renal carcinoma 1 (DIRC1), mRNA.	95										large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			TTAATATTTTCCACCCCCTCA	0.373000														153			57		0	0	1	0	0
TM6SF1	53346	broad.mit.edu	37	15	83784673	83784673	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83784673C>T	uc002bjp.3	+	2	382	c.273C>T	c.(271-273)ttC>ttT	p.F91F	TM6SF1_uc010bmq.3_Silent_p.F91F|TM6SF1_uc002bjq.3_Silent_p.F91F|TM6SF1_uc010bmr.3_Non-coding_Transcript	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA.	91						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TTGACGGGTTCATGACACACT	0.433000														67			22		0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862608	5862608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5862608G>A	uc010qzq.2	-	0	520	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R178C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGATGATACGATGTCCACAG	0.478000														107			39		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51792266	51792266	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51792266G>A	uc010ufy.2	-	17	3380	c.3155C>T	c.(3154-3156)cCt>cTt	p.P1052L	DMXL2_uc002abf.3_Missense_Mutation_p.P1052L|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1052						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTCATCAAAGGCCATCTCTT	0.413000														84			25		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655520	46655520	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:46655520C>T	uc003bhh.3	-	0	3700	c.3700G>A	c.(3700-3702)Gtg>Atg	p.V1234M		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1234	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAAATAGTCACCAAGTAGCAT	0.443000														104			52		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114289975	114289975	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:114289975C>T	uc004bff.2	+	1	524	c.300C>T	c.(298-300)ttC>ttT	p.F100F	ZNF483_uc011lwq.2_Silent_p.F100F|ZNF483_uc004bfg.2_Silent_p.F100F|ZNF483_uc010mud.1_Silent_p.F100F	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	100	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TTGAGCAGTTCCTGACCATTT	0.473000														75			33		0	0	1	0	0
STK40	83931	broad.mit.edu	37	1	36823848	36823848	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:36823848G>A	uc001cak.1	-	4	741	c.334C>T	c.(334-336)Ctc>Ttc	p.L112F	STK40_uc001cal.1_Missense_Mutation_p.L117F|STK40_uc001cam.1_Missense_Mutation_p.L112F|STK40_uc001can.1_Missense_Mutation_p.L112F	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	Homo sapiens serine/threonine kinase 40 (STK40), mRNA.	112	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				ACCTGGAAGAGGCCGTGGTGG	0.647000														27			25		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121747721	121747721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:121747721G>A	uc010flp.3	+	12	4261	c.4231G>A	c.(4231-4233)Gaa>Aaa	p.E1411K	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.E1083K|GLI2_uc002tmu.4_Missense_Mutation_p.E1066K	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1411					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GTCCAGTCAGGAAACAGCAGA	0.697000														35			11		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8476354	8476354	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:8476354C>T	uc001mgi.1	-	5	1642	c.723G>A	c.(721-723)ctG>ctA	p.L241L	STK33_uc001mgj.1_Silent_p.L241L|STK33_uc001mgk.1_Silent_p.L241L|STK33_uc010rbn.1_Silent_p.L200L|STK33_uc001mgl.3_Silent_p.L54L|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	241	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTATATTTTCCAGTTTCAGAT	0.259000														52			10		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41423891	41423891	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41423891C>T	uc002yyq.1	-	29	5631	c.5179G>A	c.(5179-5181)Gga>Aga	p.G1727R	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1727					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCACTCGTTCCCGGCCGAGCG	0.478000														178			32		0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413290	124413290	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124413290C>T	uc010sam.2	-	0	261	c.261G>A	c.(259-261)agG>agA	p.R87R		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	87					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)		TGATGTTCTTCCTTGAGACAA	0.433000														81			24		0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156378652	156378652	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156378652G>A	uc003lwh.2	-	2	607	c.550C>T	c.(550-552)Cag>Tag	p.Q184*	TIMD4_uc010jii.2_Nonsense_Mutation_p.Q184*	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	184	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGTCATCTGGAGTGGTGTT	0.552000														125			39		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140789314	140789314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140789314C>T	uc003lkj.2	+	0	1545	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Silent_p.F515F	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	517	Cadherin 5.				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)			GGGTGGTGTTCGCGCAGCGCG	0.667000														23			4		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52211401	52211401	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:52211401C>T	uc003jou.3	+	14	2379	c.1965C>T	c.(1963-1965)ggC>ggT	p.G655G	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Silent_p.G186G	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	655					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.G654G(2)|p.G654V(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CTATTGGGGGCCTTGGTGGTG	0.468000														114			62		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57931719	57931719	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:57931719G>A	uc002aei.3	+	9	1226	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	GCOM1_uc002aej.3_Silent_p.K365K|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Silent_p.K365K|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Silent_p.K365K	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	365					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GCCAGCAGAAGAAAGTCAAGC	0.522000														34			10		0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59373179	59373179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:59373179C>T	uc002afv.3	+	7	2272	c.1993C>T	c.(1993-1995)Ccg>Tcg	p.P665S	RNF111_uc002afs.3_Missense_Mutation_p.P665S|RNF111_uc002aft.3_Missense_Mutation_p.P665S|RNF111_uc002afu.3_Missense_Mutation_p.P664S|RNF111_uc002afw.3_Missense_Mutation_p.P665S|RNF111_uc002afx.3_Missense_Mutation_p.P191S	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	665	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TTCTGCCTGCCCGCATTCTCA	0.438000														161			25		0	0	1	0	0
C9	735	broad.mit.edu	37	5	39331857	39331857	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:39331857C>T	uc003jlv.4	-	4	625	c.536G>A	c.(535-537)gGa>gAa	p.G179E		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	179	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)			GTTACAGAGTCCATTGTAGAA	0.438000														147			48		0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49663596	49663596	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:49663596C>T	uc003ozn.2	-	8	793	c.557G>A	c.(556-558)gGa>gAa	p.G186E	CRISP2_uc003ozr.2_Missense_Mutation_p.G186E|CRISP2_uc003ozo.2_Missense_Mutation_p.G186E|CRISP2_uc003ozm.2_Missense_Mutation_p.G221E|CRISP2_uc003ozp.2_Missense_Mutation_p.G186E|CRISP2_uc003ozq.2_Missense_Mutation_p.G186E|CRISP2_uc003ozl.2_Missense_Mutation_p.G186E	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	186						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ACAAGGTGTTCCTTGTTGGTA	0.338000														61			22		0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89128865	89128865	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:89128865C>T	uc003yeb.4	-	5	1236	c.954G>A	c.(952-954)agG>agA	p.R318R		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	318					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGTCATTTTTCCTTGGGTCAG	0.527000														118			50		0	0	1	0	0
NRL	4901	broad.mit.edu	37	14	24552051	24552052	+	Silent	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24552051_24552052GG>AA	uc001wlo.3	-	1	137_138	c.6_7CC>TT	c.(4-9)gccctg>gcTTtg	p.2_3AL>AL	NRL_uc021rrk.1_5'Flank|NRL_uc001wlp.3_Silent_p.2_3AL>AL|NRL_uc001wlq.3_Silent_p.2_3AL>AL	NM_006177	NP_006168	P54845	NRL_HUMAN	Homo sapiens neural retina leucine zipper (NRL), mRNA.	2					response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		CTGGGGGGCAGGGCCATTCTGG	0.604000														45			11		0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42583205	42583205	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42583205C>A	uc002osk.4	+	1	952	c.717C>A	c.(715-717)ctC>ctA	p.L239L	ZNF574_uc002osm.4_Silent_p.L149L|ZNF574_uc021uva.1_Silent_p.L149L	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				AGACGCACCTCCGGGCCACAC	0.642000														77			47		6.23363e-37	6.2741e-37	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208224719	208224719	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:208224719G>A	uc001hgz.3	-	15	3801	c.3043C>T	c.(3043-3045)Ctt>Ttt	p.L1015F		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1015	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACCGGGCCAAGGCCATTGGAT	0.562000														37			13		0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350174	51350174	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51350174G>A	uc001zyy.3	-	2	883	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	261										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		GGGTGGAGAGGAACTCCACAT	0.517000														61			26		0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77475383	77475383	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:77475383C>T	uc002lnh.2	+	7	2070	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	CTDP1_uc002lni.2_Silent_p.F641F|CTDP1_uc010drd.2_Silent_p.F641F|CTDP1_uc021ult.1_Silent_p.F522F	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	641	BRCT.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCATAATTTTCAGTGGGCTAC	0.597000														13			4		0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233752796	233752796	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233752796C>T	uc002vts.2	-	8	1542	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	NGEF_uc010zmm.1_Missense_Mutation_p.E155K|NGEF_uc010fyg.1_Missense_Mutation_p.E340K	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	432	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TCAGACCTCTCTTCTACCCTC	0.488000														62			29		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1262685	1262685	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1262685G>A	uc001lta.3	+	30	4634	c.4575G>A	c.(4573-4575)ggG>ggA	p.G1525G		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1525	7 X Cys-rich subdomain repeats.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AACTTGGAGGGGACGTTGAGT	0.607000														16			11		0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6606396	6606396	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:6606396C>T	uc002gdj.3	-	4	697	c.609G>A	c.(607-609)agG>agA	p.R203R	SLC13A5_uc010clq.3_Silent_p.R160R|SLC13A5_uc002gdk.3_Silent_p.R186R|SLC13A5_uc010vtf.2_Silent_p.R203R|SLC13A5_uc002gdl.1_Silent_p.R185R	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	203						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CCTTACACAACCTCTTCCGCT	0.627000														52			32		0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10405169	10405169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10405169C>T	uc002mnu.4	+	8	2148	c.2083C>T	c.(2083-2085)Cgc>Tgc	p.R695C	ICAM5_uc002mnv.4_Missense_Mutation_p.R570C	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	695	Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGCCCGGGGTCGCCCTTCCCC	0.677000														27			9		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172007471	172007471	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:172007471C>T	uc001gie.3	+	6	1038	c.862C>T	c.(862-864)Cac>Tac	p.H288Y	DNM3_uc001gid.4_Missense_Mutation_p.H288Y|DNM3_uc009wwb.2_Missense_Mutation_p.H288Y|DNM3_uc001gif.3_Missense_Mutation_p.H288Y	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	288					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACTTACCAACCACATTCGGGA	0.378000														53			17		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65016033	65016033	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:65016033C>T	uc002eoi.3	-	7	1605	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	CDH11_uc010cdn.3_Intron|CDH11_uc002eoj.3_Missense_Mutation_p.E391K|CDH11_uc010vin.2_Missense_Mutation_p.E265K|CDH11_uc002eok.1_Non-coding_Transcript	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	391	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.E391D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCTTGGACTTCGTGGATGTAA	0.502000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				105			17		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473672	19473672	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:19473672G>A	uc003jgd.3	-	12	2570	c.2036C>T	c.(2035-2037)cCt>cTt	p.P679L	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.P679L|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	679					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGCAGCAGAAGGATTCCTCAA	0.507000														97			51		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3790455	3790455	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3790455G>A	uc002cvv.3	-	23	4282	c.4078C>T	c.(4078-4080)Cga>Tga	p.R1360*	CREBBP_uc002cvw.3_Nonsense_Mutation_p.R1322*	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1360	Cys/His-rich.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1360*(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCCACCACTCGGACAAAAACC	0.582000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							65			7		0	0	1	0	0
POC5	134359	broad.mit.edu	37	5	75008689	75008689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:75008689G>A	uc003keh.4	-	1	271	c.74C>T	c.(73-75)tCg>tTg	p.S25L	POC5_uc010izu.3_5'Flank|POC5_uc003keg.4_5'Flank	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN	Homo sapiens POC5 centriolar protein homolog (Chlamydomonas) (POC5), transcript variant 1, mRNA.	25					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTGAAGATTCGAAGAGACAGA	0.323000														19			5		0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43678849	43678849	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:43678849C>T	uc001jan.3	+	7	1823	c.1488C>T	c.(1486-1488)ccC>ccT	p.P496P		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	496					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.P496P(2)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGCTGACCCCCGAGCAGTACC	0.517000														212			22		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139657436	139657436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:139657436C>T	uc011kqv.2	+	8	1068	c.833C>T	c.(832-834)tCa>tTa	p.S278L	TBXAS1_uc003vvh.3_Missense_Mutation_p.S232L|TBXAS1_uc010lne.3_Missense_Mutation_p.S164L|TBXAS1_uc011kqu.2_Missense_Mutation_p.S183L|TBXAS1_uc003vvi.3_Missense_Mutation_p.S232L|TBXAS1_uc011kqw.2_Missense_Mutation_p.S212L|TBXAS1_uc003vvj.3_Missense_Mutation_p.S232L	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	231					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					TTTCAAGTATCATTTCCATCC	0.453000														65			19		0	0	1	0	0
DHRS3	9249	broad.mit.edu	37	1	12677180	12677180	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12677180G>A	uc001auc.3	-	0	641	c.174C>T	c.(172-174)ttC>ttT	p.F58F	DHRS3_uc001aub.3_5'Flank|DHRS3_uc009vnm.3_Silent_p.F58F|DHRS3_uc001aud.4_Silent_p.F58F	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	58					retinol metabolic process|visual perception	integral to membrane	NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CGCGCTCCGCGAACTCGCGGG	0.731000														49			26		0	0	1	0	0
RCC1	1104	broad.mit.edu	37	1	28864346	28864346	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:28864346C>T	uc001bqb.2	+	12	1492	c.1093C>T	c.(1093-1095)Cgt>Tgt	p.R365C	RCC1_uc001bqa.2_Missense_Mutation_p.R365C|RCC1_uc001bqc.2_Missense_Mutation_p.R365C|RCC1_uc001bqe.2_Missense_Mutation_p.R382C|RCC1_uc001bqf.2_Missense_Mutation_p.R396C|RCC1_uc001bqg.2_Missense_Mutation_p.R365C	NM_001269	NP_001260	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA.	365					G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTGCAGGTCGTGTTTTCGC	0.592000														13			10		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78796447	78796447	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:78796447C>T	uc004akc.2	+	15	2675	c.2137C>T	c.(2137-2139)Ctg>Ttg	p.L713L	PCSK5_uc004ajz.3_Silent_p.L713L|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_5'UTR	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	713	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGGATACTTTCTGAATGAAGA	0.478000														79			37		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106124630	106124630	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106124630G>A	uc001kyh.3	+	3	714	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	194										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGAGGAGGCTGAACATGCCAT	0.488000														39			18		0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50253064	50253064	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:50253064C>T	uc003cyn.4	+	5	600	c.459C>T	c.(457-459)atC>atT	p.I153I	SLC38A3_uc011bdl.2_Silent_p.I129I|SLC38A3_uc011bdm.2_Silent_p.I85I	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	154					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	TCCAGAACATCGGAGGTAAGA	0.657000														55			5		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891226	18891226	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:18891226G>A	uc001rdy.3	+	0	182	c.24G>A	c.(22-24)agG>agA	p.R8R	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	8					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TGCTGAGCAGGAAGGACAAGG	0.433000														75			25		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78400326	78400326	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:78400326C>T	uc001syp.3	+	7	1181	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	NAV3_uc001syo.3_Silent_p.S336S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	336						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S336S(2)		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						GCAGCAAGTCCATGAATGTCA	0.562000										HNSCC(70;0.22)				64			29		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9098032	9098032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:9098032G>A	uc001apo.3	-	10	1518	c.1226C>T	c.(1225-1227)cCa>cTa	p.P409L	SLC2A5_uc010nzy.2_Missense_Mutation_p.P350L|SLC2A5_uc010nzz.2_Missense_Mutation_p.P294L|SLC2A5_uc010oaa.2_Missense_Mutation_p.P365L	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	409					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	p.R408R(1)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGGCAGATGGCCGAGAGGA	0.647000														24			10		0	0	1	0	0
MKKS	8195	broad.mit.edu	37	20	10393290	10393290	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:10393290G>A	uc002wnt.1	-	2	1760	c.873C>T	c.(871-873)gtC>gtT	p.V291V	MKKS_uc002wnu.1_Silent_p.V291V|MKKS_uc010zrd.1_Intron	NM_018848	NP_740754	Q9NPJ1	MKKS_HUMAN	Homo sapiens McKusick-Kaufman syndrome (MKKS), transcript variant 1, mRNA.	291	Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TTTGGCACAGGACAAGATCTA	0.438000														80			30		0	0	1	0	0
CRCT1	54544	broad.mit.edu	37	1	152487946	152487946	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152487946C>T	uc021oyy.1	+	0	87	c.87C>T	c.(85-87)ccC>ccT	p.P29P	CRCT1_uc001ezz.3_Silent_p.P29P	NM_019060	NP_061933	Q9UGL9	CRCT1_HUMAN	Homo sapiens cysteine-rich C-terminal 1 (CRCT1), mRNA.	29										lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ccccggcgcccaccccggcgc	0.716000														23			3		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123843062	123843062	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:123843062C>T	uc001lfv.3	+	3	1407	c.1047C>T	c.(1045-1047)ggC>ggT	p.G349G	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.G349G|TACC2_uc010qtv.2_Silent_p.G349G	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	349						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)				TGCCCTGGGGCTTGCCAAGTC	0.627000														65			22		0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113231680	113231680	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:113231680C>T	uc001eck.3	+	2	531	c.261C>T	c.(259-261)ttC>ttT	p.F87F	MOV10_uc001ecl.2_Silent_p.F87F|MOV10_uc001ecn.3_Silent_p.F87F|MOV10_uc001ecm.3_Silent_p.F27F|MOV10_uc009wgj.1_Silent_p.F27F	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	87					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ACGTGCGGTTCCCAGAAAAGA	0.498000														42			20		0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005323	25005324	+	Nonsense_Mutation	DNP	CC	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:25005323_25005324CC>TA	uc003grf.2	-	7	1486_1487	c.1387_1388GG>TA	c.(1387-1389)ggg>TAg	p.G463*		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	463						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GGTCATGGCCCCCCGGGATGGA	0.505000														186			53		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20534356	20534356	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:20534356C>T	uc001iqg.1	+	12	2032	c.1395C>T	c.(1393-1395)ctC>ctT	p.L465L	PLXDC2_uc001iqh.1_Silent_p.L416L|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	465						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TCCTGGTCCTCATTGTAGCCA	0.473000														149			60		0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53547816	53547816	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:53547816G>A	uc001cuv.3	+	9	2137	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K	PODN_uc010onr.2_Missense_Mutation_p.E638K|PODN_uc010ons.2_Missense_Mutation_p.E515K|PODN_uc001cuw.3_Missense_Mutation_p.E638K	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	609					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ggaggaggaggaagaggaAAC	0.522000														19			14		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125015581	125015581	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:125015581G>A	uc003yqw.3	+	12	1900	c.1694G>A	c.(1693-1695)gGg>gAg	p.G565E	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	565						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTGACAGAAGGGAACAGGTAG	0.502000														39			11		0	0	1	0	0
ASAH2B	653308	broad.mit.edu	37	10	52502754	52502754	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:52502754C>T	uc001jjg.3	+	1	135	c.70C>T	c.(70-72)Cta>Tta	p.L24L	ASAH2B_uc010qhm.2_5'UTR	NM_001079516	NP_001072984	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B (ASAH2B), mRNA.	639					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(2)|lung(2)	4						AGAAACCTTGCTAAGGCTATT	0.483000														166			15		0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19319266	19319266	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:19319266C>T	uc010vyw.2	+	13	1905	c.1674C>T	c.(1672-1674)ctC>ctT	p.L558L	RNF112_uc021tsa.1_Non-coding_Transcript	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	558							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGGCCGGGCTCATGGGCCTGG	0.687000														4			8		0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9998483	9998483	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:9998483G>A	uc003gmc.3	-	2	393	c.332C>T	c.(331-333)tCt>tTt	p.S111F	SLC2A9_uc003gmd.3_Missense_Mutation_p.S82F	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	111					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CACAGTCACAGACCAGAGCAA	0.453000														56			35		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135744367	135744367	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:135744367G>A	uc002tue.1	-	6	2106	c.2075C>T	c.(2074-2076)cCa>cTa	p.P692L	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P579L|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.P420L|YSK4_uc002tui.4_Missense_Mutation_p.P709L	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	692							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCTGCCTGATGGAGCCGAACA	0.418000														173			81		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119033623	119033623	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:119033623G>A	uc004bjn.3	+	8	3262	c.2881G>A	c.(2881-2883)Gac>Aac	p.D961N	PAPPA_uc011lxp.1_Missense_Mutation_p.D656N|PAPPA_uc011lxq.2_Missense_Mutation_p.D336N	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	961					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						TGAACAATGCGACGACATGAA	0.448000														122			48		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848510	166848510	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166848510G>A	uc002udo.4	-	27	5502	c.5275C>T	c.(5275-5277)Cca>Tca	p.P1759S	SCN1A_uc010fpk.3_Missense_Mutation_p.P1731S|SCN1A_uc021vsb.1_Missense_Mutation_p.P1748S	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1759						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCAACAGATGGGTTCCCACAG	0.463000														223			87		0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115805519	115805519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:115805519G>A	uc011lwz.1	-	3	1452	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L	ZFP37_uc004bgm.1_Missense_Mutation_p.P460L|ZFP37_uc011lxa.1_Missense_Mutation_p.P461L	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	460						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACATTCAAAGGGTTTCTCACC	0.353000														48			17		0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75900467	75900468	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:75900467_75900468GG>AA	uc001vjl.1	-	9	2245_2246	c.1898_1899CC>TT	c.(1897-1899)tcc>tTT	p.S633F	TBC1D4_uc010aer.2_Missense_Mutation_p.S633F|TBC1D4_uc010aes.2_Missense_Mutation_p.S633F	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	633						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAAACTGCGGGGAGTCGGAATC	0.584000														44			16		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344970	20344970	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20344970C>T	uc001vwh.1	+	0	544	c.544C>T	c.(544-546)Cct>Tct	p.P182S		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGTGACCTTCCTGTGGTGTT	0.423000														315			134		0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64627777	64627777	+	Silent	SNP	G	A	A	rs148805183		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64627777G>A	uc010rnq.1	-	3	623	c.576C>T	c.(574-576)ttC>ttT	p.F192F	EHD1_uc001obu.1_Silent_p.F178F|EHD1_uc001obv.1_Silent_p.F178F	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	178					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CACGCTCCGCGAACCACTCCA	0.587000														34			19		0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36170723	36170723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:36170723G>A	uc003zzb.4	+	0	1335	c.1224G>A	c.(1222-1224)aaG>aaA	p.K408K		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	408					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TGGCAGGAAAGATGAGCATCC	0.547000														68			28		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121384967	121384967	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121384967C>T	uc001pxx.3	+	7	1277	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	383					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTGAAGTTCTCCCTGTCCTTG	0.542000														62			19		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121393311	121393311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121393311C>T	uc001pxx.3	+	9	1550	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	474					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGGGCTGTTCCCTTCATCTG	0.572000														172			52		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639748	179639748	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179639748G>A	uc021vsy.1	-	28	6915	c.6690C>T	c.(6688-6690)ttC>ttT	p.F2230F	TTN_uc021vsz.1_Silent_p.F2184F|TTN_uc021vta.1_Silent_p.F2184F|TTN_uc021vtb.1_Silent_p.F2184F|TTN_uc002unb.2_Silent_p.F2230F|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2230	Ig-like 11.						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)			GTATGGAGAGGAAGTGAACCT	0.388000														74			23		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221279	161221279	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:161221279G>A	uc011bpb.2	+	3	983	c.983G>A	c.(982-984)cGg>cAg	p.R328Q		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	328	Collagen-like 3.					collagen		p.R328W(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AAGGGCTCTCGGGGCTTTAAA	0.572000														16			7		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87730951	87730951	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:87730951G>A	uc003hpz.3	+	45	7593	c.7113G>A	c.(7111-7113)ctG>ctA	p.L2371L	PTPN13_uc003hpy.3_Silent_p.L2376L|PTPN13_uc003hqa.3_Silent_p.L2352L|PTPN13_uc003hqb.3_Silent_p.L2180L	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2371	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTTCTCATCTGAATTTCACTG	0.388000														84			38		0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99182197	99182197	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:99182197C>T	uc002syy.3	+	20	2655	c.2262C>T	c.(2260-2262)tcC>tcT	p.S754S	INPP4A_uc010yvj.1_Silent_p.S715S|INPP4A_uc010yvk.2_Silent_p.S715S|INPP4A_uc002syx.3_Silent_p.S749S|INPP4A_uc010fik.3_Silent_p.S83S	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	754					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CCAGCGCCTCCGCAGACATGC	0.517000														85			7		0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124381320	124381320	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:124381320G>A	uc003yqh.4	-	7	1135	c.1027C>T	c.(1027-1029)Cct>Tct	p.P343S	ATAD2_uc011lii.2_Missense_Mutation_p.P134S|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.P343S	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTACAGTAAGGACTTCTTGGT	0.403000														44			22		0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49511034	49511034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:49511034G>A	uc002xvt.1	-	4	562	c.217C>T	c.(217-219)Cct>Tct	p.P73S	ADNP_uc002xvu.1_Missense_Mutation_p.P73S	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	73						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						CAGCAGAAAGGTTTTGTCCGA	0.393000														70			22		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12639443	12639443	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12639443G>A	uc002mty.3	-	1	281	c.71C>T	c.(70-72)tCc>tTc	p.S24F	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TTTCTTCTGGGAAGGATCCAG	0.463000														124			51		0	0	1	0	0
ZNF696	79943	broad.mit.edu	37	8	144378516	144378516	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144378516C>T	uc003yxy.4	+	2	1080	c.671C>T	c.(670-672)gCc>gTc	p.A224V		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	Homo sapiens zinc finger protein 696 (ZNF696), mRNA.	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGGTCGGACGCCGCCAAGCAC	0.721000														11			4		0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105353206	105353206	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105353206C>T	uc001yps.3	+	10	2726	c.2420C>T	c.(2419-2421)cCc>cTc	p.P807L	KIAA0284_uc010axb.3_Missense_Mutation_p.P807L|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	877						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GCCAGTGGTCCCCCAGCGCCC	0.677000														47			15		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519592	113519592	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:113519592C>T	uc010ljy.1	-	3	1586	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	519					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATTCTTTGTTCTTCATCATCC	0.333000														31			9		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92088157	92088157	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92088157C>T	uc001pdj.4	+	0	2896	c.2879C>T	c.(2878-2880)aCc>aTc	p.T960I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	960	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.T960S(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGCTTGAGACCCATGATCCA	0.468000										TCGA Ovarian(4;0.039)				76			29		0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92638150	92638150	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:92638150G>T	uc002bqx.2	+	2	887	c.686G>T	c.(685-687)gGg>gTg	p.G229V	SLCO3A1_uc002bqy.2_Missense_Mutation_p.G229V|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.G171V	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	229					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	p.G229W(1)|p.C228C(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CCAGCCTGCGGGTTTATCCTG	0.428000														99			21		7.92952e-12	7.96151e-12	1	1	0
PLIN5	440503	broad.mit.edu	37	19	4525711	4525711	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4525711C>T	uc002mas.3	-	5	707	c.654G>A	c.(652-654)ggG>ggA	p.G218G		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	218						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GCCTCAGTTTCCCCACAGAGT	0.662000														68			34		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169432901	169432901	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169432901G>A	uc011cjx.2	+	1	457	c.246G>A	c.(244-246)aaG>aaA	p.K82K	PALLD_uc003iru.3_Silent_p.K82K	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	82					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTTCCCATAAGGAGACCAAAT	0.483000									Pancreatic Cancer, Familial Clustering of					36			8		0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76029030	76029030	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:76029030G>A	uc003ken.4	+	1	1245	c.980G>A	c.(979-981)gGa>gAa	p.G327E		NM_001992	NP_001983	P25116	PAR1_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor (F2R), mRNA.	327					STAT protein import into nucleus|activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|tyrosine phosphorylation of STAT protein	Golgi apparatus|caveola|extracellular region|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	ATTTGCTTCGGACCCACAAAC	0.512000														101			34		0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798216	148798216	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:148798216G>A	uc004fdq.3	+	4	1225	c.1070G>A	c.(1069-1071)aGg>aAg	p.R357K	MAGEA11_uc004fdr.3_Missense_Mutation_p.R328K	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	357	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GAGCCCAAGAGGCTCCTTACC	0.562000														78			102		0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738756	138738756	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:138738756G>A	uc003esy.1	-	0	1013	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	250	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGTTCCGGGAGCGGCGAGCGC	0.677000														21			9		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197024862	197024862	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197024862G>A	uc001gtt.1	-	7	1381	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	446	Sushi 7.				blood coagulation	extracellular region		p.S446P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AACAGGTGGGGATGACCATTT	0.368000														73			39		0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214794828	214794828	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:214794828C>T	uc002veq.3	+	11	1451	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	SPAG16_uc010fuz.2_Silent_p.S304S|SPAG16_uc002ver.3_Silent_p.S399S|SPAG16_uc010zjk.2_Silent_p.S359S	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	453					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTGTGGCTTCCTCCTCACTGG	0.428000														84			53		0	0	1	0	0
SNX1	6642	broad.mit.edu	37	15	64404804	64404804	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:64404804C>T	uc002amv.3	+	1	322	c.192C>T	c.(190-192)tcC>tcT	p.S64S	SNX1_uc010bgv.3_5'UTR|SNX1_uc010uio.2_Silent_p.S64S|SNX1_uc002amx.3_Silent_p.S64S|SNX1_uc010bgw.3_5'UTR	NM_003099	NP_003090	Q13596	SNX1_HUMAN	Homo sapiens sorting nexin 1 (SNX1), transcript variant 1, mRNA.	64					cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	Golgi apparatus|early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TAACTACATCCCTTCTTCCCA	0.393000														124			8		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20048142	20048142	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:20048142G>A	uc001umd.3	-	6	515	c.304C>T	c.(304-306)Ctt>Ttt	p.L102F	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Missense_Mutation_p.L65F|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	102						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GGAATATAAAGTTTGCTGTCA	0.323000														109			40		0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44449850	44449850	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:44449850G>C	uc003gwu.3	-	0	975	c.691C>G	c.(691-693)Cgt>Ggt	p.R231G		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	231						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CGCGCCACACGCCGGAATTTG	0.711000										HNSCC(17;0.042)				10			5		0	0	1	0	0
HOOK1	51361	broad.mit.edu	37	1	60328519	60328519	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:60328519G>A	uc009wad.3	+	16	1698	c.1596G>A	c.(1594-1596)caG>caA	p.Q532Q	HOOK1_uc001czo.3_Silent_p.Q532Q|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Silent_p.Q490Q	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	532	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AATCTTTACAGGAACAAGGTT	0.368000														94			21		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40689277	40689277	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:40689277C>T	uc001rmg.4	+	22	3048	c.2927C>T	c.(2926-2928)tCt>tTt	p.S976F	LRRK2_uc001rmh.1_Missense_Mutation_p.S598F|LRRK2_uc009zjw.3_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	976					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGCATTTCTTCTCTGGCTTCT	0.338000														61			17		0	0	1	0	0
GJC3	349149	broad.mit.edu	37	7	99526588	99526588	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99526588C>T	uc011kjd.2	-	0	656	c.656G>A	c.(655-657)tGg>tAg	p.W219*		NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN	Homo sapiens gap junction protein, gamma 3, 30.2kDa (GJC3), mRNA.	219						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CCAGGTCCTCCACCATCTCCC	0.458000														53			24		0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54277897	54277898	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:54277897_54277898CC>TT	uc003jpk.3	-	1	447_448	c.378_379GG>AA	c.(376-381)acggga>acAAga	p.G127R	ESM1_uc010ivt.3_Intron	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Homo sapiens endothelial cell-specific molecule 1 (ESM1), transcript variant 1, mRNA.	127					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			AGGCATTTTCCCGTCCCCCTGT	0.495000														109			49		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2714298	2714298	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2714298G>A	uc009zdu.1	+	23	3385	c.3072G>A	c.(3070-3072)agG>agA	p.R1024R	CACNA1C_uc001qkc.2_Silent_p.R1004R|CACNA1C_uc001qjz.2_Silent_p.R1004R|CACNA1C_uc001qkd.2_Silent_p.R1004R|CACNA1C_uc001qke.2_Silent_p.R1004R|CACNA1C_uc001qkf.2_Silent_p.R1004R|CACNA1C_uc009zdw.1_Silent_p.R1004R|CACNA1C_uc001qkg.2_Silent_p.R1004R|CACNA1C_uc001qkh.2_Silent_p.R1004R|CACNA1C_uc001qkl.2_Silent_p.R1024R|CACNA1C_uc001qkj.2_Silent_p.R1004R|CACNA1C_uc001qkk.2_Silent_p.R1004R|CACNA1C_uc001qkn.2_Silent_p.R1004R|CACNA1C_uc001qkm.2_Silent_p.R1004R|CACNA1C_uc001qko.2_Silent_p.R1024R|CACNA1C_uc001qkp.2_Silent_p.R1004R|CACNA1C_uc001qkq.2_Silent_p.R1004R|CACNA1C_uc001qku.2_Silent_p.R1004R|CACNA1C_uc001qkr.2_Silent_p.R1004R|CACNA1C_uc001qks.2_Silent_p.R1004R|CACNA1C_uc001qkt.2_Silent_p.R1004R|CACNA1C_uc009zdv.1_Silent_p.R1001R|CACNA1C_uc001qkb.2_Silent_p.R1004R|CACNA1C_uc001qka.1_Silent_p.R539R|CACNA1C_uc001qki.1_Silent_p.R740R	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1024					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GAGTACTCAGGCCCCTGAGGG	0.592000														50			7		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983180	97983180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:97983180G>A	uc003dsi.1	+	0	52	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGAGGAGATGGAAGAGGAAAA	0.388000														153			73		0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55792097	55792097	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:55792097G>A	uc002rzc.3	-	13	2708	c.2016C>T	c.(2014-2016)ttC>ttT	p.F672F	SMEK2_uc002rzb.3_Silent_p.F587F|SMEK2_uc002rzd.3_Silent_p.F640F|SMEK2_uc002ryz.3_Silent_p.F106F|SMEK2_uc002rza.3_Silent_p.F463F	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	672						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCAATCCTTTGAATGTCTGAA	0.308000														34			13		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72346896	72346896	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72346896G>A	uc002jkm.4	+	11	1577	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q	KIF19_uc002jkj.2_Missense_Mutation_p.R480Q|KIF19_uc002jkk.2_Missense_Mutation_p.R438Q|KIF19_uc002jkl.2_Missense_Mutation_p.R438Q	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	480					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GAGGAGCAGCGAAAGGAGTGC	0.647000														89			27		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74019403	74019403	+	Silent	SNP	G	A	A	rs148972745		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74019403G>A	uc010wss.1	-	3	678	c.450C>T	c.(448-450)gtC>gtT	p.V150V	EVPL_uc002jqi.2_Silent_p.V150V|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	150	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GTGCCCAGTCGACCCTGGGTC	0.607000														90			38		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16892697	16892697	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:16892697G>A	uc010rcu.1	-	3	269	c.254C>T	c.(253-255)cCt>cTt	p.P85L	PLEKHA7_uc001mmo.3_Missense_Mutation_p.P85L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	85	WW 2.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCCCGTCACAGGATGCCTGAA	0.428000														69			16		0	0	1	0	0
ZFP3	124961	broad.mit.edu	37	17	4995352	4995352	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:4995352C>T	uc002gaq.3	+	1	678	c.553C>T	c.(553-555)Cga>Tga	p.R185*	ZFP3_uc021tog.1_Nonsense_Mutation_p.R185*	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA.	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TTCAAGCCTTCGACGGCACCT	0.398000														50			49		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38607954	38607954	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38607954G>A	uc021wvo.1	-	19	3838	c.3786C>T	c.(3784-3786)ggC>ggT	p.G1262G	SCN5A_uc021wvk.1_Silent_p.G1261G|SCN5A_uc021wvl.1_Silent_p.G1208G|SCN5A_uc021wvm.1_Silent_p.G1262G|SCN5A_uc021wvn.1_Silent_p.G1261G|SCN5A_uc021wvp.1_Silent_p.G1262G|SCN5A_uc021wvq.1_Silent_p.G1261G|SCN5A_uc021wvr.1_Silent_p.G1262G|SCN5A_uc021wvs.1_Silent_p.G1262G|SCN5A_uc021wvt.1_Silent_p.G1261G|SCN5A_uc021wvu.1_Silent_p.G1208G|SCN5A_uc021wvv.1_Silent_p.G1262G|SCN5A_uc021wvj.1_Silent_p.G1074G|SCN5A_uc021wvi.1_Silent_p.G1128G|SCN5A_uc021wvw.1_Silent_p.G872G	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1262			G -> S (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ACTTCTTGAAGCCGTAGGCCA	0.532000														138			14		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49445619	49445619	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49445619G>A	uc001rta.4	-	9	1847	c.1847C>T	c.(1846-1848)cCc>cTc	p.P616L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	616	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGGGGAAAGGGGAGACTCCTC	0.602000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				70			17		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506752	37506752	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:37506752G>A	uc021ppc.1	+	32	3144	c.3045G>A	c.(3043-3045)caG>caA	p.Q1015Q	ANKRD30A_uc001iza.1_Silent_p.Q1015Q	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1071						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACTTGAACAGGCTCTCAGAA	0.294000														33			33		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064875	7064875	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7064875C>T	uc001mfb.1	+	3	1941	c.1618C>T	c.(1618-1620)Cga>Tga	p.R540*		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	540					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAATGAAGATCGAGTAAAACA	0.348000														89			31		0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87636167	87636167	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:87636167G>A	uc004aoa.1	+	20	3222	c.2284_splice	c.e20-1	p.V762_splice	NTRK2_uc004anz.1_Splice_Site_p.V778_splice	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	762	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CTCCATCCAGGTGATAGAGTG	0.527000										TSP Lung(25;0.17)				21			4		0	0	1	0	0
ICAM3	3385	broad.mit.edu	37	19	10449579	10449579	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10449579G>A	uc002mob.2	-	1	177	c.122C>T	c.(121-123)cCt>cTt	p.P41L	ICAM3_uc010dxd.1_5'UTR|ICAM3_uc010xlf.1_Intron	NM_002162	NP_002153	P32942	ICAM3_HUMAN	Homo sapiens intercellular adhesion molecule 3 (ICAM3), mRNA.	41					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			AGAGAGCACAGGGTTCTGGGG	0.552000														63			19		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402247	89402247	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89402247C>T	uc010upo.1	+	11	6805	c.6431C>T	c.(6430-6432)tCc>tTc	p.S2144F	ACAN_uc010upp.1_Missense_Mutation_p.S2144F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2144					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)			CTTGAGAGATCCTCTGGCCTA	0.572000														145			28		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755639	10755639	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10755639G>A	uc003wtk.1	-	2	1776	c.1749C>T	c.(1747-1749)ccC>ccT	p.P583P		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	583						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TCTTAATGAGGGGCCCTTCTG	0.512000														39			13		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34640665	34640665	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34640665C>T	uc010ucc.2	+	2	978	c.596C>T	c.(595-597)cCc>cTc	p.P199L	C15orf55_uc010ucd.2_Missense_Mutation_p.P189L|C15orf55_uc001zif.3_Missense_Mutation_p.P171L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	171						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CAACTGGTCCCCATTGTGCCC	0.602000			T	"""BRD3, BRD4"""	lethal midline carcinoma									30			14		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566681	4566681	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4566681C>T	uc010qyf.2	+	0	261	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGAATCTTCTGGTTCGGTG	0.512000														78			23		0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64815823	64815823	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64815823C>T	uc001ocn.3	-	8	1249	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A	NAALADL1_uc010rnw.2_5'UTR|NAALADL1_uc009ypz.3_Non-coding_Transcript	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	411	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CCCCCCAGCTCGCAAACACGA	0.582000														99			9		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74536339	74536339	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74536339C>T	uc002axo.3	+	1	429	c.35C>T	c.(34-36)cCa>cTa	p.P12L		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	215							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACTGAAGACCCAGAGGAGCCC	0.557000														153			20		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9052063	9052063	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:9052063G>A	uc003jek.2	-	19	3479	c.2767C>T	c.(2767-2769)Ctg>Ttg	p.L923L		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	923	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATGGGGAACAGGAGGATGCAC	0.587000														38			14		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890497	139890497	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:139890497C>T	uc003yvd.3	-	2	601	c.154G>A	c.(154-156)Gag>Aag	p.E52K		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	52	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCAAAGTCCTCCTTGCCCACG	0.637000										HNSCC(7;0.00092)				12			5		0	0	1	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652443	234652443	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234652443C>T	uc002vuz.3	-	0	219	c.120G>A	c.(118-120)gaG>gaA	p.E40E	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	40	J.				protein folding		heat shock protein binding|unfolded protein binding										TCTCCGCTTCCTCCTTGTTCT	0.622000														175			82		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34003955	34003955	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:34003955G>A	uc003oir.4	-	7	2295	c.1932C>T	c.(1930-1932)atC>atT	p.I644I	GRM4_uc011dsn.2_Silent_p.I597I|GRM4_uc010jvh.3_Silent_p.I644I|GRM4_uc010jvi.3_Silent_p.I336I|GRM4_uc003oio.3_Silent_p.I336I|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.I504I|GRM4_uc003oiq.3_Silent_p.I511I|GRM4_uc011dsm.2_Silent_p.I475I	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	644					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CGGGCTCAGCGATCATGAGGA	0.602000														38			20		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26885831	26885831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:26885831C>T	uc003jgs.1	-	10	1943	c.1774G>A	c.(1774-1776)Gat>Aat	p.D592N	CDH9_uc011cnv.1_Missense_Mutation_p.D185N	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	592	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D592N(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCTTGATTATCGCAGGCACAC	0.478000														19			9		0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56271342	56271342	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56271342G>A	uc002ivq.3	+	4	602	c.483G>A	c.(481-483)ggG>ggA	p.G161G		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	161					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.G161G(2)|p.G161R(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCTTGCTAGGGGCCTCCAACC	0.667000														40			15		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	408507	408507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:408507G>A	uc001ifp.3	-	21	2807	c.2717C>T	c.(2716-2718)tCt>tTt	p.S906F	DIP2C_uc009xhi.1_Missense_Mutation_p.S292F|DIP2C_uc010pzz.1_Missense_Mutation_p.S227F	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	906						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGGGTGCAGAGAGCCCTCCAG	0.542000														88			16		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37333917	37333917	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37333917G>A	uc003aqa.4	+	13	2284	c.2067G>A	c.(2065-2067)aaG>aaA	p.K689K	CSF2RB_uc003aqc.4_Silent_p.K695K	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	689					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGGACCAAAAGGACAGCCCTG	0.637000														40			5		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6239766	6239766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:6239766C>T	uc002kmz.4	-	8	818	c.658G>A	c.(658-660)Gat>Aat	p.D220N	L3MBTL4_uc002kmy.4_Missense_Mutation_p.D220N|L3MBTL4_uc010dkt.3_Missense_Mutation_p.D220N	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	220					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				AGTAAGCGATCTTCAACAATA	0.403000														110			13		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13735280	13735280	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13735280C>T	uc003jfd.2	-	67	11763	c.11721G>A	c.(11719-11721)agG>agA	p.R3907R	DNAH5_uc003jfc.2_Silent_p.R75R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3907					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)					TGACTCGGTTCCTCTGGATGT	0.438000									Kartagener syndrome					86			8		0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56638911	56638912	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56638911_56638912GG>AA	uc001skm.4	-	21	2557_2558	c.2467_2468CC>TT	c.(2467-2469)ccc>TTc	p.P823F		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	823							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGGAGTGAAGGGGTTTCCTTCC	0.510000														157			10		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21318838	21318838	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:21318838G>A	uc021tss.1	+	2	554	c.184G>A	c.(184-186)Gag>Aag	p.E62K	KCNJ18_uc002gyv.1_Missense_Mutation_p.E62K|KCNJ18_uc021tst.1_Missense_Mutation_p.E62K	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	62						integral to membrane	inward rectifier potassium channel activity										CAACATGGACGAGAAGTCACA	0.592000														41			13		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62586953	62586953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62586953C>T	uc001dab.3	+	37	5105	c.4991C>T	c.(4990-4992)tCc>tTc	p.S1664F	INADL_uc001dac.3_Non-coding_Transcript|INADL_uc009wag.3_Missense_Mutation_p.S448F	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1664					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TCAGATCCTTCCCAGAAAAAT	0.423000														73			28		0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132307179	132307179	+	Missense_Mutation	SNP	C	T	T	rs148167692		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:132307179C>T	uc010sck.2	-	3	651	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	OPCML_uc001qgu.3_Missense_Mutation_p.E194K|OPCML_uc001qgs.3_Missense_Mutation_p.E201K|OPCML_uc001qgt.3_Missense_Mutation_p.E200K|OPCML_uc010scl.2_Missense_Mutation_p.E160K	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	201	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.E201K(4)|p.E201Q(2)|p.E194Q(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GCGCTGCATTCGTACTCCCCG	0.532000														63			11		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101389	168101389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:168101389C>T	uc002udx.3	+	8	3576	c.3487C>T	c.(3487-3489)Cgt>Tgt	p.R1163C	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R988C|XIRP2_uc010fpq.3_Missense_Mutation_p.R941C|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	988					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGGGGATGTTCGTACAGCATG	0.403000														81			17		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47608979	47608979	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47608979G>A	uc001cqv.1	+	4	600	c.549G>A	c.(547-549)ctG>ctA	p.L183L	CYP4A22_uc009vyo.3_Silent_p.L183L|CYP4A22_uc009vyp.3_Silent_p.L183L	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	183						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATTCCCCTCTGGAGGTCTTTC	0.547000														63			25		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39495058	39495059	+	Missense_Mutation	DNP	GT	AC	AC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39495058_39495059GT>AC	uc003xni.3	+	8	718_719	c.663_664GT>AC	c.(661-666)atgttt>atACtt	p.221_222MF>IL	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.197_198MF>IL	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	221	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATTTTTAGATGTTTACCCAGTT	0.292000														35			10		0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63967960	63967960	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:63967960C>T	uc003dlv.3	+	6	1404	c.851C>T	c.(850-852)tCc>tTc	p.S284F	ATXN7_uc003dlw.4_Missense_Mutation_p.S284F|ATXN7_uc021wzy.1_Missense_Mutation_p.S284F|ATXN7_uc011bfn.2_Missense_Mutation_p.S139F	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	284					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		ACTGTGAGTTCCTTAGTCAAG	0.517000														66			9		0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121823712	121823712	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:121823712C>T	uc010mdg.3	-	0	598	c.372G>A	c.(370-372)ggG>ggA	p.G124G	SNTB1_uc003ype.3_Silent_p.G124G	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	124	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGATGCTGATCCCCAGCCCGC	0.637000														31			15		0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109937499	109937499	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:109937499C>T	uc001top.3	+	11	1605	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	UBE3B_uc001toq.3_Silent_p.F334F|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Silent_p.F334F	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	334					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CAGATGGGTTCGTGAGTTTGC	0.557000														36			8		0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9488924	9488924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:9488924C>T	uc003brt.3	+	13	2150	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L	SETD5_uc003brs.1_Missense_Mutation_p.S553L|SETD5_uc003bru.3_Missense_Mutation_p.S474L|SETD5_uc003brv.3_Missense_Mutation_p.S461L|SETD5_uc010hck.3_Missense_Mutation_p.S54L|SETD5_uc003brx.3_Missense_Mutation_p.S241L	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	572										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AACTCTGTTTCAAATGTTACC	0.458000														139			61		0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4833673	4833673	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:4833673C>T	uc002cxq.3	-	5	871	c.607G>A	c.(607-609)Gag>Aag	p.E203K	SEPT12_uc002cxr.3_Missense_Mutation_p.E157K|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	203					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GCCTCTCGCTCCTCCATGGTC	0.687000														46			26		0	0	1	0	0
NT5E	4907	broad.mit.edu	37	6	86181095	86181095	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:86181095G>A	uc003pko.4	+	2	1259	c.703G>A	c.(703-705)Ggt>Agt	p.G235S	NT5E_uc003pkn.3_Missense_Mutation_p.G235S|NT5E_uc010kbr.3_Missense_Mutation_p.G235S	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	235					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	GAAAGTGAGGGGTGTGGACGT	0.423000														48			26		0	0	1	0	0
PI4KAP2	375133	broad.mit.edu	37	22	21841891	21841891	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:21841891G>A	uc002zuv.4	-	2	2611	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C	PI4KAP2_uc002zuw.3_Non-coding_Transcript|PI4KAP2_uc011aid.2_Non-coding_Transcript|PI4KAP2_uc011aie.1_Missense_Mutation_p.R118C|PI4KAP2_uc011aif.1_Intron|PI4KAP2_uc002zux.2_Missense_Mutation_p.R118C					Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 (PI4KAP2), non-coding RNA.											endometrium(3)|urinary_tract(1)	4						ATCTTCTCGCGAAGCACATTG	0.607000														28			9		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14880842	14880842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:14880842G>A	uc003ssz.3	-	0	234	c.47C>T	c.(46-48)tCc>tTc	p.S16F	DGKB_uc011jxt.2_Missense_Mutation_p.S16F|DGKB_uc003sta.3_Missense_Mutation_p.S16F|DGKB_uc011jxu.2_Missense_Mutation_p.S16F|DGKB_uc011jxv.1_Missense_Mutation_p.S16F	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	16					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|protein binding	p.F15C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CTGAAGTTGGGAAAATTCCGA	0.368000														15			6		0	0	1	0	0
ASAH2	56624	broad.mit.edu	37	10	52003004	52003004	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:52003004G>A	uc001jjd.3	-	2	468	c.468C>T	c.(466-468)gtC>gtT	p.V156V	ASAH2_uc009xos.3_Silent_p.V156V	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA.	156					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						TGTCGATGCTGACAAACACTG	0.473000														173			68		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45799080	45799080	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45799080G>A	uc010gpt.1	+	8	1315	c.1215_splice	c.e8+1	p.K405_splice	TRPM2_uc002zet.1_Splice_Site_p.K405_splice|TRPM2_uc002zeu.1_Splice_Site_p.K405_splice|TRPM2_uc021wjr.1_Splice_Site|TRPM2_uc002zew.1_Splice_Site_p.K405_splice|TRPM2_uc002zex.1_Splice_Site_p.K191_splice	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	405						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGACCAAAAAGGTGAGGCTGA	0.557000														51			23		0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22705588	22705588	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:22705588G>A	uc001iri.3	+	10	1668	c.1501G>A	c.(1501-1503)Gtg>Atg	p.V501M	SPAG6_uc010qct.2_Missense_Mutation_p.V476M|SPAG6_uc009xkh.3_3'UTR|SPAG6_uc001irj.3_Missense_Mutation_p.G452D|SPAG6_uc021poe.1_Missense_Mutation_p.V227M	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	501					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TCTGCAGAGGGTGGACAGCTA	0.358000														107			39		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115221019	115221019	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:115221019C>T	uc001efe.2	-	7	1174	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	AMPD1_uc001eff.2_Missense_Mutation_p.E372K	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	343	Substrate binding (By similarity).				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.N376N(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)	Adenosine monophosphate(DB00131)	GCAAAAAGTTCCTTTAGGGTC	0.378000														118			50		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958475	143958475	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:143958475C>T	uc010mey.3	-	4	779	c.772G>A	c.(772-774)Gac>Aac	p.D258N	CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Missense_Mutation_p.D187N|CYP11B1_uc003yxj.3_Missense_Mutation_p.D187N	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	187					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-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)				Mitotane(DB00648)	GGCTGGACGTCCAGGGTCAGG	0.637000									Familial Hyperaldosteronism type I					19			9		0	0	1	0	0
CXCR3	2833	broad.mit.edu	37	X	70836294	70836294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:70836294C>T	uc022bys.1	-	0	1169	c.1169G>A	c.(1168-1170)gGg>gAg	p.G390E	BCYRN1_uc011mpt.1_Intron|CXCR3_uc004eaf.3_Missense_Mutation_p.G343E|CXCR3_uc011mpx.2_Missense_Mutation_p.G390E	NM_001142797	NP_001136269	P49682	CXCR3_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 3 (CXCR3), transcript variant 2, mRNA.	343					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					CCTCTGGAGCCCTCTCTGGTT	0.637000														13			5		0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78717428	78717428	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:78717428G>A	uc003dqe.2	-	12	1863	c.1655C>T	c.(1654-1656)cCa>cTa	p.P552L	ROBO1_uc003dqc.2_Missense_Mutation_p.P516L|ROBO1_uc003dqd.2_Missense_Mutation_p.P516L|ROBO1_uc003dqb.2_Missense_Mutation_p.P513L|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Missense_Mutation_p.P124L|ROBO1_uc003dqf.1_Missense_Mutation_p.P231L	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	552					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGTAGGTCTTGGAGGCTGAAC	0.388000														114			39		0	0	1	0	0
ATP5F1	515	broad.mit.edu	37	1	111996918	111996918	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111996918C>T	uc009wgf.1	+	3	620	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	ATP5F1_uc001ebc.3_Missense_Mutation_p.R55C	NM_001688	NP_001679	P24539	AT5F1_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 (ATP5F1), nuclear gene encoding mitochondrial protein, mRNA.	55					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding	p.R55C(1)		breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGAAAAGTTCGTTATGGACT	0.438000														97			50		0	0	1	0	0
SF3A1	10291	broad.mit.edu	37	22	30742481	30742481	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:30742481G>A	uc003ahl.3	-	2	345	c.213C>T	c.(211-213)atC>atT	p.I71I	SF3A1_uc021wnt.1_Silent_p.I71I	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	71					nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CGTTCTGTCGGATCCTAGCTT	0.483000														92			44		0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84213612	84213612	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84213612G>A	uc002fhn.3	-	12	1881	c.1639C>T	c.(1639-1641)Cct>Tct	p.P547S	TAF1C_uc010vnz.2_Missense_Mutation_p.P215S|TAF1C_uc002fho.3_Missense_Mutation_p.P70S|TAF1C_uc010voa.2_Missense_Mutation_p.P215S|TAF1C_uc002fhm.3_Missense_Mutation_p.P453S|TAF1C_uc010vnx.2_Missense_Mutation_p.P521S|TAF1C_uc010vny.2_Missense_Mutation_p.P138S	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	547					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TCCAGCAGAGGAAATGCAGGG	0.652000														25			16		0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71036968	71036968	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:71036968G>A	uc003xyn.1	-	19	4211	c.4049C>T	c.(4048-4050)cCc>cTc	p.P1350L	NCOA2_uc011lfb.1_Missense_Mutation_p.P438L	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	1350					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATGTCGGAGGGGGCCTGATA	0.562000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									52			8		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682029	69682029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69682029G>A	uc003hee.3	+	0	317	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	UGT2B10_uc011cam.2_Missense_Mutation_p.E98K	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	98					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.S97P(1)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAGATTGTCAGAAATTCAAAA	0.313000														94			37		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117849481	117849481	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117849481C>T	uc004bjj.4	-	2	941	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	TNC_uc010mvf.3_Missense_Mutation_p.E177K|TNC_uc022bmj.1_Missense_Mutation_p.E177K	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	177	EGF-like 1; incomplete.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.C176C(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGCCAGGTTCGCAGACACAG	0.582000														79			26		0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	858969	858969	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:858969C>T	uc003gbm.4	-	22	3306	c.3107G>A	c.(3106-3108)gGa>gAa	p.G1036E	GAK_uc003gbn.4_Missense_Mutation_p.G957E|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.G889E	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	1036					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGCAGCCCATCCTCCCAGCAG	0.632000														32			24		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660736	77660736	+	Silent	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77660736A>T	uc011cbx.2	+	4	2363	c.1410A>T	c.(1408-1410)gtA>gtT	p.V470V	SHROOM3_uc011cbz.1_Silent_p.V294V|SHROOM3_uc003hkf.1_Silent_p.V345V|SHROOM3_uc003hkg.3_Silent_p.V248V	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	470					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCTACCCGGTACCTTCCCTGG	0.577000														76			29		0	0	1	0	0
CCDC134	79879	broad.mit.edu	37	22	42209433	42209433	+	Missense_Mutation	SNP	C	T	T	rs148694139		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:42209433C>T	uc003bbh.1	+	4	585	c.476C>T	c.(475-477)tCg>tTg	p.S159L	bK250D10.C22.8_uc003bba.1_Intron|CCDC134_uc011apg.1_Intron	NM_024821	NP_079097	Q9H6E4	CC134_HUMAN	Homo sapiens coiled-coil domain containing 134 (CCDC134), mRNA.	159						extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						GGGCCCCACTCGCCCATCCTC	0.587000														43			18		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38798333	38798333	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38798333C>T	uc003ciq.3	-	8	1122	c.1122G>A	c.(1120-1122)atG>atA	p.M374I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	374					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAAAAAAGATCATATAGATTT	0.473000														89			36		0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25150797	25150797	+	Missense_Mutation	SNP	G	A	A	rs142590557		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:25150797G>A	uc003abd.1	-	6	1144	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	PIWIL3_uc011ajx.1_Missense_Mutation_p.R134C|PIWIL3_uc010gut.1_Missense_Mutation_p.R243C|PIWIL3_uc011ajy.1_Missense_Mutation_p.R134C	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	243					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	p.R243C(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAATAGTTGCGACCAACTTGT	0.348000														98			32		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106725467	106725467	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106725467C>T	uc021ser.1	-	927		c.22045G>A								Parts of antibodies, mostly variable regions.																		TGTACCAAGCCTCCCCCAGAC	0.562000														221			59		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55294968	55294968	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55294968G>A	uc010erz.1	+	7	964	c.926G>A	c.(925-927)gGa>gAa	p.G309E	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc010yfl.2_5'Flank|KIR3DL2_uc021vbm.1_5'Flank|KIR2DL1_uc010erw.1_Missense_Mutation_p.G284E|KIR2DL1_uc002qgz.1_Missense_Mutation_p.G193E|KIR2DL1_uc002qhb.1_Missense_Mutation_p.G283E	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	283					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.C308C(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GAGTCTGCAGGAAACAGAACA	0.517000														119			45		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91795689	91795689	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:91795689C>T	uc002bqv.3	+	4	1614	c.723C>T	c.(721-723)atC>atT	p.I241I	SV2B_uc002bqt.3_Silent_p.I241I|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.I90I	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	241					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGCTGGGCATCTTCTGGATGA	0.532000														76			29		0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48035011	48035011	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:48035011G>A	uc003gxw.3	+	4	437	c.371_splice	c.e4-1	p.M124_splice		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	124						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						GCTTTCTAGTGGGAGCAGGAG	0.428000														44			12		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33134870	33134870	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33134870C>T	uc003ocx.1	-	57	4435	c.4207G>A	c.(4207-4209)Gat>Aat	p.D1403N	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.D1317N|COL11A2_uc003ocz.1_Missense_Mutation_p.D1296N	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1403	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCTCCAGCATCGCCCCGGAGA	0.612000														68			8		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97082687	97082687	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:97082687G>A	uc004aup.1	-	4	1192	c.1171C>T	c.(1171-1173)Ccc>Tcc	p.P391S		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	391	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				ACTTCAGGGGGGATCTCCTCA	0.662000														70			46		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53883852	53883852	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:53883852G>A	uc003pcf.2	+	0	139	c.26G>A	c.(25-27)aGa>aAa	p.R9K	MLIP_uc003pcg.4_Missense_Mutation_p.R9K	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	9	Interaction with LMNA.					PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CGTGAAAAAAGAAGCTTATTA	0.363000														39			15		0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10231363	10231363	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:10231363C>T	uc021ogc.1	+	25	4342	c.3654C>T	c.(3652-3654)ttC>ttT	p.F1218F	UBE4B_uc001aqs.4_Silent_p.F1167F|UBE4B_uc001aqr.4_Silent_p.F1038F|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.F622F|UBE4B_uc001aqu.3_Silent_p.F48F	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	1167					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GTGCTCGGTTCGCGAAAGCCA	0.478000														115			52		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77973147	77973147	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:77973147C>T	uc003ugx.3	-	8	1610	c.1356G>A	c.(1354-1356)gtG>gtA	p.V452V	MAGI2_uc003ugy.3_Silent_p.V452V|MAGI2_uc010ldx.1_Silent_p.V61V|MAGI2_uc010ldy.1_Silent_p.V61V|MAGI2_uc011kgr.1_Silent_p.V284V|MAGI2_uc011kgs.1_Silent_p.V289V	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	452	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding	p.Q451Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCACACTTTTCACCTGCAGAA	0.438000														61			25		0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237037098	237037099	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:237037098_237037099CC>TT	uc001hyi.4	+	22	2854_2855	c.2431_2432CC>TT	c.(2431-2433)cca>TTa	p.P811L	MTR_uc010pxw.2_Missense_Mutation_p.P404L|MTR_uc010pxx.2_Missense_Mutation_p.P760L|MTR_uc010pxy.2_Missense_Mutation_p.P665L	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	811	B12-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGTCATGACTCCATGTGATAAG	0.376000														85			27		0	0	1	0	0
FAM178A	55719	broad.mit.edu	37	10	102676652	102676652	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:102676652C>T	uc001krs.3	+	2	1052	c.510C>T	c.(508-510)tcC>tcT	p.S170S	FAM178A_uc001krr.1_Silent_p.S170S|FAM178A_uc001krt.4_Silent_p.S170S|FAM178A_uc001kru.1_Silent_p.S106S	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	170																	AACATCGATCCCCAGAGAGAA	0.388000														53			22		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89924433	89924433	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89924433G>A	uc003kju.3	+	7	1389	c.1293G>A	c.(1291-1293)gcG>gcA	p.A431A	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	431					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGTCTCTGCGAATTGGGTGT	0.418000														69			20		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536064	69536064	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69536064C>T	uc021xow.1	-	0	431	c.273G>A	c.(271-273)ctG>ctA	p.L91L		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	91					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CGAGAATTTTCAGAAGAGAAT	0.294000														105			43		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880876	70880876	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:70880876G>A	uc003tvy.3	+	4	590	c.590_splice	c.e4-1	p.E197_splice	WBSCR17_uc003tvz.3_Splice_Site	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	197	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CATTTGCAGAGGAGCTGAAGG	0.483000														34			11		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004631	75004631	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:75004631C>T	uc004ecj.2	-	0	449	c.256G>A	c.(256-258)Gac>Aac	p.D86N		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	86										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCTAGAGGGTCATGGACCCTG	0.547000														24			18		0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75387345	75387345	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:75387345C>T	uc004aiz.1	+	12	1298	c.758C>T	c.(757-759)tCc>tTc	p.S253F	TMC1_uc010moz.1_Missense_Mutation_p.S211F|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.S107F|TMC1_uc010mpa.1_Missense_Mutation_p.S107F	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	253					sensory perception of sound	integral to membrane		p.S253S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GCACAATATTCCGTTCTCTTT	0.383000														260			27		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961846	34961846	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:34961846C>T	uc004ddi.2	+	0	934	c.898C>T	c.(898-900)Cct>Tct	p.P300S		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	300	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCCGGAGCCTCCTGAGACTGG	0.632000														27			48		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761127	92761127	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92761127G>A	uc003umh.1	-	4	5374	c.4158C>T	c.(4156-4158)gcC>gcT	p.A1386A	SAMD9L_uc003umj.1_Silent_p.A1386A|SAMD9L_uc003umi.1_Silent_p.A1386A|SAMD9L_uc010lfb.1_Silent_p.A1386A|SAMD9L_uc003umk.1_Silent_p.A1386A|SAMD9L_uc010lfc.1_Silent_p.A1386A|SAMD9L_uc010lfd.1_Silent_p.A1386A|SAMD9L_uc022ahh.1_Silent_p.A1386A	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1386										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GAATAATGTTGGCCAAAATGG	0.383000														251			17		0	0	1	0	0
TSKU	25987	broad.mit.edu	37	11	76506753	76506753	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:76506753C>T	uc021qno.1	+	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F	TSKU_uc001oxt.3_Silent_p.F31F	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	31	LRRNT.					extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TGGAGACCTTCGGCCTTTTCG	0.672000														61			7		0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33696189	33696190	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:33696189_33696190CC>TT	uc010edh.3	+	4	606_607	c.513_514CC>TT	c.(511-516)ttccgc>ttTTgc	p.R172C	LRP3_uc010xrp.1_Missense_Mutation_p.R46C|LRP3_uc002nuk.4_Missense_Mutation_p.R46C	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	172	LDL-receptor class A 1.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CAGATGAGTTCCGCTGTGACAA	0.663000														10			3		0	0	1	0	0
DEFA4	1669	broad.mit.edu	37	8	6793654	6793654	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:6793654C>T	uc003wqu.1	-	2	233	c.182G>A	c.(181-183)aGg>aAg	p.R61K		NM_001925	NP_001916	P12838	DEF4_HUMAN	Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.	61					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GACCATGCCCCTTGTTGAGCC	0.517000														47			9		0	0	1	0	0
WNT11	7481	broad.mit.edu	37	11	75902850	75902850	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:75902850G>A	uc001oxe.3	-	3	771	c.648C>T	c.(646-648)ggC>ggT	p.G216G	WNT11_uc001oxf.1_Silent_p.G216G	NM_004626	NP_004617	O96014	WNT11_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.	216					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|Ras GTPase activator activity|protein kinase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						TGGAGCAGGAGCCAGACACCC	0.642000														51			18		0	0	1	0	0
ASTE1	28990	broad.mit.edu	37	3	130743962	130743962	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130743962G>A	uc010htm.1	-	2	396	c.189C>T	c.(187-189)ttC>ttT	p.F63F	NEK11_uc003enx.3_5'Flank|NEK11_uc003eny.3_5'Flank|NEK11_uc003eoa.3_5'Flank|NEK11_uc003enz.3_5'Flank|NEK11_uc011blk.2_5'Flank|NEK11_uc011bll.2_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.2_5'Flank|ASTE1_uc003env.1_Silent_p.F63F|ASTE1_uc011blj.1_Non-coding_Transcript	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	Homo sapiens asteroid homolog 1 (Drosophila) (ASTE1), mRNA.	63					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GTGATTCAAAGAATTTTTGTA	0.363000														98			12		0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32459583	32459583	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:32459583C>T	uc010dmn.1	+	18	1982	c.1981C>T	c.(1981-1983)Ccc>Tcc	p.P661S	DTNA_uc002kxw.2_Missense_Mutation_p.P604S|DTNA_uc002kxz.2_Missense_Mutation_p.P608S|DTNA_uc002kxy.2_Missense_Mutation_p.P601S|DTNA_uc010dmj.3_Missense_Mutation_p.P601S|DTNA_uc010xby.1_Missense_Mutation_p.P351S|DTNA_uc002kye.3_Missense_Mutation_p.P309S|DTNA_uc010xca.2_Missense_Mutation_p.P313S|DTNA_uc010xbz.2_Missense_Mutation_p.P370S	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	661					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GGATCTTGTTCCCTCACCAAC	0.448000														49			12		0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37741779	37741779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:37741779C>T	uc002yvi.3	+	14	2189	c.2113C>T	c.(2113-2115)Ctt>Ttt	p.L705F		NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	705					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	PML body|aggresome|intermediate filament cytoskeleton	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CCAGCTACTCCTTGTCACTGA	0.378000														76			25		0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62782792	62782792	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62782792G>A	uc002jew.4	-	9	2288	c.1377C>T	c.(1375-1377)gcC>gcT	p.A459A	PLEKHM1P_uc002jev.3_Non-coding_Transcript					Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene (PLEKHM1P), non-coding RNA.																		CATGCTGGGAGGCAAATTCAA	0.542000														20			5		0	0	1	0	0
NOMO2	283820	broad.mit.edu	37	16	18532111	18532111	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:18532111G>A	uc002dfe.3	-	18	2321	c.2249C>T	c.(2248-2250)tCg>tTg	p.S750L	NOMO2_uc002dff.3_Missense_Mutation_p.S750L|NOMO2_uc010bvx.3_Missense_Mutation_p.S583L|Mir_548_uc021teb.1_5'Flank	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	Homo sapiens NODAL modulator 2 (NOMO2), transcript variant 1, mRNA.	750						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						GAAATCATACGAGAAGGGGCC	0.507000														171			23		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28968393	28968393	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28968393C>T	uc002kwr.2	+	3	415	c.280C>T	c.(280-282)Cga>Tga	p.R94*	DSG4_uc002kwq.2_Nonsense_Mutation_p.R94*	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	94	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGGATTGATCGACCACCATA	0.408000														64			16		0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27390186	27390186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:27390186G>A	uc001mrj.4	-	17	2569	c.2084C>T	c.(2083-2085)cCa>cTa	p.P695L	LGR4_uc001mrk.4_Missense_Mutation_p.P671L	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	695						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TGTAGGAAATGGCAAACAAAG	0.428000														84			20		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54803019	54803019	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54803019G>A	uc002qfd.3	-	3	750	c.658C>T	c.(658-660)Cca>Tca	p.P220S	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	219	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCTCACCTGGGACCAGGAGC	0.612000														101			35		0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39602432	39602432	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:39602432G>A	uc001uwy.3	-	4	1174	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	PROSER1_uc001uwz.3_Missense_Mutation_p.R79C	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	101																	TCAATAGGACGAGAATTCTGT	0.338000														24			12		0	0	1	0	0
CDKL2	8999	broad.mit.edu	37	4	76530724	76530724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:76530724G>A	uc011cbp.2	-	4	1162	c.637C>T	c.(637-639)Cat>Tat	p.H213Y	CDKL2_uc003hiq.3_Missense_Mutation_p.H213Y|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	213	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATCATAATATGATATAGCTGA	0.368000														68			5		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41161795	41161795	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41161795C>T	uc003jmk.2	-	10	1668	c.1458_splice	c.e10+1	p.E486_splice	C6_uc003jml.1_Splice_Site_p.E486_splice	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	486	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				TTACTCTTACCTCAAAGTCAA	0.398000														92			25		0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38229537	38229537	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38229537G>A	uc002ohe.3	-	4	1923	c.1854C>T	c.(1852-1854)gcC>gcT	p.A618A	ZNF573_uc010efs.2_Silent_p.A531A|ZNF573_uc002ohd.3_Silent_p.A616A|ZNF573_uc002ohf.3_Silent_p.A560A|ZNF573_uc002ohg.3_Silent_p.A530A|ZNF573_uc021utv.1_Silent_p.A530A	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			CACGACTGAAGGCCTTCCCAC	0.403000														102			22		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6711072	6711072	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6711072C>T	uc002mfm.3	-	11	1467	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	469			E -> D (in dbSNP:rs11569422).		G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TTGAGGGTCTCCCCGGGTCTG	0.602000														199			26		0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64873562	64873562	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:64873562G>A	uc010wqi.2	+	1	349	c.112G>A	c.(112-114)Gag>Aag	p.E38K	CACNG5_uc010wqj.2_Missense_Mutation_p.E38K	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	38					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GTACCTGGAGGAGGGTGTGAT	0.622000														73			22		0	0	1	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246231	145246231	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:145246231G>A	uc003lns.1	-	1	397	c.397C>T	c.(397-399)Cga>Tga	p.R133*		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	133								p.R133*(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						ATTGGGGTTCGAATGATTTTC	0.398000														88			36		0	0	1	0	0
TBPL2	387332	broad.mit.edu	37	14	55903341	55903341	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:55903341G>A	uc001xby.3	-	1	546	c.546C>T	c.(544-546)tcC>tcT	p.S182S		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	182					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TGGGAGTTATGGATGCCAGAG	0.438000														73			42		0	0	1	0	0
OTX1	5013	broad.mit.edu	37	2	63282749	63282749	+	Silent	SNP	C	T	T	rs75832508		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:63282749C>T	uc021vim.1	+	4	639	c.363C>T	c.(361-363)tcC>tcT	p.S121S	OTX1_uc002scd.3_Silent_p.S121S|OTX1_uc010ypt.2_Silent_p.S55S	NM_001199770	NP_001186699	P32242	OTX1_HUMAN	Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA.	121						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GCTCGGGCTCCGAAAGCAGTG	0.672000														79			9		0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247694899	247694899	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247694899C>T	uc021pmb.1	-	0	915	c.915G>A	c.(913-915)atG>atA	p.M305I	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.M305I	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TCTCTAATACCATGTGCCGGA	0.507000														48			18		0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154105	5154105	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:5154105C>T	uc001qni.3	+	0	1021	c.792C>T	c.(790-792)atC>atT	p.I264I		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	264						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TCATCTCCATCATCACCTTCT	0.647000														147			20		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113283288	113283288	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113283288G>A	uc001pnz.3	-	5	1449	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	DRD2_uc010rwv.2_Silent_p.A375A|DRD2_uc001poa.4_Silent_p.A376A|DRD2_uc001pob.4_Silent_p.A347A	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	376					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CGAGAACAATGGCGAGCATCT	0.582000														45			14		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169529932	169529932	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169529932G>A	uc001ggg.1	-	3	591	c.446C>T	c.(445-447)aCc>aTc	p.T149I	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	149	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCATTCATAGGTGTATTCTCG	0.507000														124			33		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1953644	1953644	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:1953644G>A	uc021qsx.1	-	24	2625	c.2394C>T	c.(2392-2394)ttC>ttT	p.F798F	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.F662F|CACNA2D4_uc009zdr.2_Non-coding_Transcript	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	798						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ACCACAGCGGGAAGCGGTCCA	0.612000														24			13		0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27436206	27436206	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27436206G>A	uc001bnm.3	-	2	1502	c.876C>T	c.(874-876)ttC>ttT	p.F292F	SLC9A1_uc010ofk.2_5'UTR|SLC9A1_uc001bnn.2_Silent_p.F292F	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	292					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGAAGCCGAGGAAGATGTCCA	0.612000														105			37		0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207107939	207107939	+	Missense_Mutation	SNP	C	T	T	rs141320420	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207107939C>T	uc001hez.3	-	5	1715	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	PIGR_uc009xbz.3_Missense_Mutation_p.E511K	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	511	Ig-like V-type 5.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTGGGGCCTTCGTCTTGGCTG	0.577000														88			46		0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43026533	43026533	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43026533T>C	uc001zql.3	-	6	1265	c.1148A>G	c.(1147-1149)aAc>aGc	p.N383S	CDAN1_uc001zqk.3_5'UTR|CDAN1_uc010bcx.1_Intron	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	383						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TTTGTCCAGGTTGGAAAGAAC	0.557000														43			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179449180	179449180	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179449180C>T	uc021vsy.1	-	259	57619	c.57394G>A	c.(57394-57396)Gaa>Aaa	p.E19132K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E12827K|TTN_uc021vta.1_Missense_Mutation_p.E12760K|TTN_uc021vtb.1_Missense_Mutation_p.E12635K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20059	Ig-like 108.						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)			CTGTTTCTTTCCTTGCGTTCA	0.443000														65			28		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172163094	172163094	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:172163094G>A	uc003fib.2	-	1	1001	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S	FJ355932_uc021xhj.1_5'Flank	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	320					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TACAGAATGGGGTTGATGGCA	0.502000														103			35		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161119180	161119180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:161119180G>A	uc003lyu.2	+	7	1398	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	GABRA6_uc003lyv.2_Missense_Mutation_p.E125K	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	354					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAAAGCTACTGAACCTTTGGA	0.413000										TCGA Ovarian(5;0.080)				94			29		0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71483628	71483628	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71483628C>T	uc002faf.3	-	5	1114	c.300G>A	c.(298-300)aaG>aaA	p.K100K	ZNF23_uc002fah.3_Silent_p.K100K|ZNF23_uc002fad.3_Silent_p.K42K|ZNF23_uc010vmf.2_Silent_p.K42K|ZNF23_uc002fag.3_Silent_p.K42K|ZNF23_uc002fai.3_Silent_p.K139K	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TGCTCTTCTCCTTCTTTATAT	0.408000														213			60		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18865907	18865907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:18865907C>T	uc021qvx.1	-	5	774	c.583G>A	c.(583-585)Gga>Aga	p.G195R	PLCZ1_uc001rdv.4_Missense_Mutation_p.G91R|PLCZ1_uc001rdw.4_Intron|PLCZ1_uc001rdu.1_5'UTR|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	195	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CAACGGCATCCTTTCACAAGG	0.358000														72			8		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	140990874	140990874	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:140990874C>T	uc002tvj.1	-	90	14653	c.13681G>A	c.(13681-13683)Gta>Ata	p.V4561I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4561					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.P4560L(1)|p.V4561E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTGCATATACCGGATTGGAG	0.323000										TSP Lung(27;0.18)				45			18		0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119736782	119736782	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:119736782G>A	uc003ici.4	-	4	769	c.497C>T	c.(496-498)cCt>cTt	p.P166L	SEC24D_uc003icj.4_Missense_Mutation_p.P166L|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	166	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TTGAGATCCAGGCTGCAAAAT	0.582000														50			18		0	0	1	0	0
C11orf70	85016	broad.mit.edu	37	11	101951951	101951951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:101951951G>A	uc001pgp.3	+	5	647	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	C11orf70_uc001pgq.3_Missense_Mutation_p.R167Q	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	205										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TTTAGTGTTCGAAAGAATCCT	0.299000														59			16		0	0	1	0	0
GLYR1	84656	broad.mit.edu	37	16	4861673	4861673	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:4861673G>A	uc002cxx.4	-	13	1450	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Silent_p.I385I|GLYR1_uc002cya.2_Silent_p.I465I|GLYR1_uc010uxv.1_Silent_p.I390I	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	471					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CCTGATTGAGGATGTCCAAGA	0.542000														35			8		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143961164	143961164	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:143961164C>T	uc010mey.3	-	0	73	c.66G>A	c.(64-66)caG>caA	p.Q22Q	CYP11B1_uc003yxi.3_Silent_p.Q22Q|CYP11B1_uc003yxj.3_Silent_p.Q22Q	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	22					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-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)				Mitotane(DB00648)	TGCCCAGTGCCTGTGCCCTTT	0.642000									Familial Hyperaldosteronism type I					98			48		0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19492780	19492780	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:19492780C>T	uc003cbk.1	+	9	1904	c.1709C>T	c.(1708-1710)tCt>tTt	p.S570F	KCNH8_uc011awe.1_3'UTR|KCNH8_uc010hex.1_Missense_Mutation_p.S31F|KCNH8_uc011awf.1_3'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	570						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATCAAAACCTCTTTCTGTGCT	0.502000														83			39		0	0	1	0	0
NTSR2	23620	broad.mit.edu	37	2	11809800	11809800	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:11809800G>A	uc002rbq.4	-	0	530	c.456C>T	c.(454-456)acC>acT	p.T152T		NM_012344	NP_036476	O95665	NTR2_HUMAN	Homo sapiens neurotensin receptor 2 (NTSR2), mRNA.	152					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CCAGCCACCGGGTCCGGCGTG	0.741000														6			4		0	0	1	0	0
C1orf150	148823	broad.mit.edu	37	1	247737658	247737658	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247737658G>A	uc001idf.3	+	4	529	c.382G>A	c.(382-384)Gat>Aat	p.D128N	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	128										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CCATGAGCATGATTATGAAGT	0.438000														72			32		0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53222763	53222763	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:53222763G>A	uc003dgl.3	+	15	1796	c.1443G>A	c.(1441-1443)ctG>ctA	p.L481L	PRKCD_uc003dgm.3_Silent_p.L481L	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	481	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		ATGTGCTGCTGGACCGGGATG	0.557000														62			44		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42693479	42693479	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42693479G>A	uc010ggo.3	+	5	982	c.942G>A	c.(940-942)cgG>cgA	p.R314R	TOX2_uc002xle.4_Silent_p.R272R|TOX2_uc010ggp.3_Silent_p.R272R|TOX2_uc002xlf.4_Intron|TOX2_uc010zwk.2_Silent_p.R192R	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CAGCCTACCGGGCTAGCCTCG	0.562000														105			31		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417399	150417399	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150417399C>T	uc003whq.3	+	2	447	c.307C>T	c.(307-309)Cac>Tac	p.H103Y	GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.H103Y	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GGAGAGAGGTCACTGCTACCT	0.642000														49			15		0	0	1	0	0
LRRC37A5P	652972	broad.mit.edu	37	9	114371455	114371455	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:114371455C>T	uc022bly.1	-	1		c.651G>A								Homo sapiens chromosome 9 open reading frame 29 (C9orf29), non-coding RNA.																		AGTCCGTCTTCAAGGTCCGGA	0.498000														126			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059450	9059450	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9059450G>A	uc002mkp.3	-	2	28200	c.27996C>T	c.(27994-27996)tcC>tcT	p.S9332S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9334	Ser-rich.|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						GGCCTGGGATGGATGTTCTGC	0.498000														130			37		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1515939	1515939	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:1515939G>A	uc003skn.2	-	37	5405	c.5304C>T	c.(5302-5304)tgC>tgT	p.C1768C		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1768					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)		CCCCACAGCAGCAGCTGAGCA	0.687000														11			4		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211192554	211192554	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:211192554C>T	uc001hib.2	-	5	773	c.603G>A	c.(601-603)gaG>gaA	p.E201E	KCNH1_uc001hic.2_Silent_p.E201E	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	201					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCTTTGGTGCCTCTTGCTTGT	0.433000														72			36		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21120147	21120147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:21120147C>T	uc001iqi.3	-	15	2046	c.1649G>A	c.(1648-1650)aGg>aAg	p.R550K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	550					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCAGATGTCCTCTTGGCTCG	0.388000														74			14		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154860056	154860056	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:154860056C>T	uc010hvr.1	+	11	1336	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	MME_uc003fab.1_Silent_p.F375F|MME_uc003fac.1_Silent_p.F375F|MME_uc003fad.1_Silent_p.F375F|MME_uc003fae.1_Silent_p.F375F	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	375					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.F375C(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CCTGGAGATTCATAATGGATC	0.398000														104			37		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45744123	45744123	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:45744123G>A	uc003tne.4	+	16	2743	c.2725G>A	c.(2725-2727)Gaa>Aaa	p.E909K		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	909					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AAAGCTCATGGAAAAAGACTT	0.502000														82			30		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45312480	45312480	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:45312480G>A	uc003bfn.3	-	3	395	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F	PHF21B_uc011aqk.2_Missense_Mutation_p.L70F|PHF21B_uc003bfm.3_5'UTR|PHF21B_uc011aql.2_Missense_Mutation_p.L82F|PHF21B_uc011aqm.1_Missense_Mutation_p.L70F	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	82							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GCAACGGGGAGGCTGTCTGGA	0.657000														53			32		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140768559	140768559	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140768559C>T	uc003lkc.2	+	0	1108	c.1108C>T	c.(1108-1110)Cgt>Tgt	p.R370C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	375	Cadherin 4.				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)			GCTCAAAGTCCGTGACAAGGA	0.398000														77			20		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123452725	123452725	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:123452725C>T	uc003ego.3	-	9	1400	c.1118G>A	c.(1117-1119)aGg>aAg	p.R373K	MYLK_uc011bjw.2_Missense_Mutation_p.R373K|MYLK_uc003egp.3_Missense_Mutation_p.R373K|MYLK_uc003egq.3_Missense_Mutation_p.R373K|MYLK_uc003egr.3_Missense_Mutation_p.R373K|MYLK_uc003egs.3_Missense_Mutation_p.R197K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	373					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.R373R(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGGAGCTGGCCTCTTCCTCTC	0.612000														103			38		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275491	114275491	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:114275491C>T	uc003ibe.4	+	37	5817	c.5717C>T	c.(5716-5718)cCt>cTt	p.P1906L	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.P1921L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1873	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCTGTTTCGCCTTCAGGCAAA	0.488000														67			22		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701434	192701434	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:192701434C>T	uc002utb.3	-	1	848	c.493G>A	c.(493-495)Gag>Aag	p.E165K		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	165						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GCAGGGATCTCATTTTCCTCC	0.468000														19			16		0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51696508	51696508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51696508C>T	uc001ryg.3	-	3	326	c.274G>A	c.(274-276)Gag>Aag	p.E92K	BIN2_uc009zlz.3_Missense_Mutation_p.E92K|BIN2_uc001ryh.3_5'UTR|BIN2_uc010sng.2_Missense_Mutation_p.E66K	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	92	BAR.					cytoplasm	protein binding	p.E92K(2)|p.S91S(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCGTCCCACTCGCTGCTGTAG	0.473000														182			69		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409647	130409647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:130409647C>T	uc004ewe.4	-	15	3287	c.3004G>A	c.(3004-3006)Gga>Aga	p.G1002R	IGSF1_uc004ewd.3_Missense_Mutation_p.G997R|IGSF1_uc022cdv.1_Missense_Mutation_p.G988R|IGSF1_uc004ewf.2_Missense_Mutation_p.G977R	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	997	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TATCCTACTCCATGGACCGGC	0.517000														31			52		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42295569	42295569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:42295569G>A	uc001uyj.3	-	24	2971	c.2901C>T	c.(2899-2901)gaC>gaT	p.D967D	KIAA0564_uc001uyk.3_Silent_p.D967D	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	967						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TAATCCCTTGGTCAGCCAAAC	0.473000														117			43		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34640458	34640458	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34640458C>T	uc010ucc.2	+	2	771	c.389C>T	c.(388-390)tCt>tTt	p.S130F	C15orf55_uc010ucd.2_Missense_Mutation_p.S120F|C15orf55_uc001zif.3_Missense_Mutation_p.S102F	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	102	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GCTGAGCCCTCTCAAACTCAG	0.577000			T	"""BRD3, BRD4"""	lethal midline carcinoma									66			40		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101375429	101375429	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:101375429G>A	uc001pgk.4	-	1	696	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	TRPC6_uc009ywy.3_Missense_Mutation_p.R91C|TRPC6_uc009ywz.1_Missense_Mutation_p.R91C	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	91					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTTGTGGAGCGATCACTAAAC	0.507000														127			49		0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85327814	85327814	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:85327814C>T	uc002bld.3	+	3	2244	c.1908C>T	c.(1906-1908)gcC>gcT	p.A636A	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	636					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCCGGCACGCCCGTGACCACA	0.597000														84			20		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2542543	2542544	+	Silent	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:2542543_2542544CC>TT	uc002wgf.1	+	3	456_457	c.441_442CC>TT	c.(439-444)tccctg>tcTTtg	p.147_148SL>SL	TMC2_uc002wgg.1_Silent_p.131_132SL>SL|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	147	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTGGGGAGTCCCTGTCCGAGGA	0.609000														65			24		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11007806	11007806	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11007806G>A	uc010oao.2	-	11	2386	c.2386C>T	c.(2386-2388)Ccc>Tcc	p.P796S	C1orf127_uc001ars.2_Missense_Mutation_p.P631S|C1orf127_uc001arr.2_Missense_Mutation_p.P639S	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	647										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GCCAAGGTGGGCTCTGTCAGC	0.632000														17			7		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473345	19473345	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:19473345C>T	uc003jgd.3	-	12	2897	c.2363G>A	c.(2362-2364)aGa>aAa	p.R788K	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.R788K|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	788					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R788G(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTAAGTTGTTCTTTCAGATTC	0.428000														121			44		0	0	1	0	0
SLC39A8	64116	broad.mit.edu	37	4	103188658	103188658	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:103188658G>A	uc003hwb.1	-	6	1751	c.1222C>T	c.(1222-1224)Ctg>Ttg	p.L408L	SLC39A8_uc011ceo.1_Silent_p.L408L|SLC39A8_uc003hwa.1_Silent_p.L341L|SLC39A8_uc003hwc.2_Silent_p.L408L	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	408						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		ATATCTGCCAGAGAAATATAG	0.358000														52			12		0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26090428	26090428	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26090428C>T	uc001bkm.2	+	6	1441	c.1111C>T	c.(1111-1113)Ctc>Ttc	p.L371F	MAN1C1_uc009vry.1_Missense_Mutation_p.L191F	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	371					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CCCCAACTTCCTCAGCCCAGT	0.582000														91			31		0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27685247	27685247	+	Missense_Mutation	SNP	G	A	A	rs146598623		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27685247G>A	uc001bny.1	-	18	2785	c.2536C>T	c.(2536-2538)Cgc>Tgc	p.R846C	MAP3K6_uc009vsw.1_Missense_Mutation_p.R838C|MAP3K6_uc001bnz.1_Missense_Mutation_p.R369C	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	846	Protein kinase.				activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAGGGGGGGCGACCTGTGGCC	0.617000														45			23		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197403884	197403884	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197403884G>A	uc001gtz.3	+	8	3100	c.2891G>A	c.(2890-2892)aGa>aAa	p.R964K	CRB1_uc010poz.2_Missense_Mutation_p.R940K|CRB1_uc009wza.3_Missense_Mutation_p.R852K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.R445K|CRB1_uc001gub.1_Missense_Mutation_p.R613K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	964	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATATTATTCAGAAGCAATGGG	0.323000														87			38		0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627663	43627663	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:43627663C>T	uc011lrb.2	-	3	1053	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	342						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						TCTTTTTCTTCCCAAATGTTG	0.428000														126			29		0	0	1	0	0
IL2	3558	broad.mit.edu	37	4	123374954	123374954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:123374954C>T	uc003ier.3	-	2	317	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_000586	NP_000577	P60568	IL2_HUMAN	Homo sapiens interleukin 2 (IL2), mRNA.	88					T cell differentiation|anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of B cell proliferation|positive regulation of activated T cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		TTTAGCACTTCCTCCAGAGGT	0.368000			T	TNFRSF17	intestinal T-cell lymphoma									112			39		0	0	1	0	0
FBXO4	26272	broad.mit.edu	37	5	41929924	41929924	+	Missense_Mutation	SNP	C	T	T	rs139473757		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41929924C>T	uc003jmq.3	+	2	607	c.551C>T	c.(550-552)cCa>cTa	p.P184L	FBXO4_uc003jmp.3_Missense_Mutation_p.P184L	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	Homo sapiens F-box protein 4 (FBXO4), transcript variant 1, mRNA.	184					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein polyubiquitination|telomere maintenance|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				ATGTTTGGACCAGGTTTGGAA	0.433000														175			65		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103557528	103557528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:103557528C>T	uc022ajr.1	-	1	491	c.331G>A	c.(331-333)Gga>Aga	p.G111R	RELN_uc022ajq.1_Missense_Mutation_p.G111R|RELN_uc010liz.3_Missense_Mutation_p.G111R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	111	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	p.G111R(2)		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)		TTACCAAATCCGAAAGCACTG	0.388000														98			39		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8435173	8435173	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:8435173G>A	uc001mgi.1	-	10	2132	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	STK33_uc001mgj.1_Missense_Mutation_p.P405S|STK33_uc001mgk.1_Missense_Mutation_p.P405S|STK33_uc010rbn.1_Missense_Mutation_p.P364S|STK33_uc001mgl.3_Missense_Mutation_p.P218S	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	405						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		ACACTTTCTGGGTTATTTTTC	0.373000														124			58		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90498113	90498113	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90498113G>A	uc004app.4	+	0	342	c.307G>A	c.(307-309)Gag>Aag	p.E103K	FAM75E1_uc004apo.1_Intron	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	103						integral to membrane											GAGCAGCAGGGAGGTAAGGAG	0.557000														7			4		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72680646	72680646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:72680646C>T	uc001sxa.3	+	1	995	c.965C>T	c.(964-966)tCa>tTa	p.S322L		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	322					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						GATCACTTTTCACAGACCCCT	0.403000														117			41		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505165	37505165	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:37505165G>A	uc021ppc.1	+	31	2857	c.2758G>A	c.(2758-2760)Gaa>Aaa	p.E920K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E920K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	976						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGAGCAAGGGAACTTCAAAA	0.323000														69			21		0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151545614	151545614	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151545614C>T	uc003eze.3	+	4	944	c.854C>T	c.(853-855)tCc>tTc	p.S285F		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	285					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	p.S285S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AATTGGAGTTCCCTGCTCCCT	0.383000														98			40		0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143100923	143100923	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:143100923C>T	uc003evn.3	-	12	1712	c.1503G>A	c.(1501-1503)gaG>gaA	p.E501E		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	501					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AGGAGGGGTCCTCCTTCAGAT	0.443000														237			26		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87683257	87683257	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:87683257C>T	uc003ydx.3	-	3	456	c.408G>A	c.(406-408)gtG>gtA	p.V136V	CNGB3_uc010maj.3_5'UTR	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	136					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GCATTCTTTTCACCAGGTTGT	0.468000														259			80		0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751819	26751819	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:26751819C>T	uc003cdp.3	+	1	1245	c.656C>T	c.(655-657)tCa>tTa	p.S219L	LRRC3B_uc003cdq.3_Missense_Mutation_p.S219L|LRRC3B_uc021wuj.1_Missense_Mutation_p.S219L	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	219						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						ATGGTGATCTCATATGTGGTA	0.468000														30			11		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107923951	107923951	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:107923951C>T	uc022ccg.1	+	44	4187	c.3985C>T	c.(3985-3987)Cct>Tct	p.P1329S	COL4A5_uc004enz.1_Missense_Mutation_p.P1323S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1323	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GAAAGGAGATCCTGGTCTCCC	0.428000									Alport syndrome with Diffuse Leiomyomatosis					13			23		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573667	140573667	+	Silent	SNP	C	T	T	rs17844573		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140573667C>T	uc003lix.3	+	0	1716	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	514	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCTGTTCGCCCTCAGGT	0.701000														316			51		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5041989	5041989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:5041989C>T	uc002cye.2	+	5	805	c.625C>T	c.(625-627)Cgt>Tgt	p.R209C		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	209						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CCACGGGCCCCGTAGCACCCT	0.697000														6			5		0	0	1	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925373	218925373	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:218925373G>A	uc002vgx.3	-	0	641	c.348C>T	c.(346-348)tcC>tcT	p.S116S	RUFY4_uc002vgw.3_Intron					Homo sapiens chemokine (C-X-C motif) receptor 2 pseudogene 1 (CXCR2P1), non-coding RNA.																		AGGAAAATGAGGACAACAGCA	0.547000														75			8		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20782881	20782881	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:20782881C>T	uc001reh.2	+	5	1620	c.1580C>T	c.(1579-1581)tCc>tTc	p.S527F	PDE3A_uc021qwa.1_Missense_Mutation_p.S205F	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	527					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TCGCCCTGCTCCTCACCTCTC	0.453000														104			39		0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42571329	42571329	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:42571329C>T	uc011dur.2	+	4	833	c.535C>T	c.(535-537)Cct>Tct	p.P179S	UBR2_uc003osf.3_Missense_Mutation_p.P179S	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	179					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ctttCAGGATCCTCTTGTTCA	0.303000														19			14		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37271906	37271906	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:37271906C>T	uc001caz.2	-	13	2248	c.2113G>A	c.(2113-2115)Gag>Aag	p.E705K	GRIK3_uc001cba.1_Missense_Mutation_p.E705K	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	705					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.E705D(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CACATCTTCTCGAAGGTGGAG	0.602000														28			7		0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106740156	106740156	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:106740156C>T	uc001tln.3	+	9	1582	c.1408C>T	c.(1408-1410)Cag>Tag	p.Q470*		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.	470										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AGCTGTCATTCAGCAGGAGCT	0.428000														33			10		0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	6	46216600	46216600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46216600C>T	uc003oyc.2	-	2	412	c.259G>A	c.(259-261)Gac>Aac	p.D87N	RCAN2_uc003oyb.2_Missense_Mutation_p.D41N|RCAN2_uc003oyd.2_Missense_Mutation_p.D87N	NM_001251974	NP_001238903	Q14206	RCAN2_HUMAN	Homo sapiens regulator of calcineurin 2 (RCAN2), transcript variant 2, mRNA.	41					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GTCACACAGTCATCATAAGTC	0.418000														61			5		0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101052900	101052900	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:101052900G>A	uc004ays.3	-	18	3252	c.2792C>T	c.(2791-2793)cCa>cTa	p.P931L		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	931					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GAAGGAGGGTGGCACATGTCT	0.692000														8			7		0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49806191	49806191	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:49806191G>A	uc003ozw.2	-	6	660	c.581C>T	c.(580-582)cCa>cTa	p.P194L	CRISP1_uc003ozx.2_Intron|CRISP1_uc021zaj.1_Missense_Mutation_p.P194L	NM_001131	NP_001192149	P54107	CRIS1_HUMAN	Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA.	194					fusion of sperm to egg plasma membrane	extracellular space		p.P194L(2)|p.V193V(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GGCTTCACATGGGACGCCTGT	0.363000														130			9		0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127944915	127944915	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:127944915G>A	uc002tod.2	-	7	1182	c.1051C>T	c.(1051-1053)Cat>Tat	p.H351Y	CYP27C1_uc021vnn.1_Missense_Mutation_p.H351Y	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	351						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GTTTTTGCATGAACAGCATTG	0.453000														71			34		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801863	185801863	+	Silent	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:185801863A>C	uc002uph.3	+	3	2334	c.1740A>C	c.(1738-1740)atA>atC	p.I580I		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	580						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACAACAAAATAAGGTTGAAAG	0.289000														65			24		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115341822	115341822	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115341822C>T	uc001lai.4	+	8	1129	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	HABP2_uc021pyr.1_Silent_p.P316P|HABP2_uc010qrz.1_Intron	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	342	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TCTCCATGCCCCAGGGCCACT	0.642000														32			14		0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301041	110301041	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110301041G>A	uc001dyr.2	-	7	839	c.614C>T	c.(613-615)tCc>tTc	p.S205F	EPS8L3_uc001dys.2_Missense_Mutation_p.S205F|EPS8L3_uc001dyq.2_Missense_Mutation_p.S206F|EPS8L3_uc009wfm.2_Missense_Mutation_p.S172F|EPS8L3_uc009wfn.2_Missense_Mutation_p.S180F|EPS8L3_uc009wfo.2_Missense_Mutation_p.S152F	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	205	Pro-rich.					cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GGGCCTTGGGGATGGTGGGAG	0.597000														185			15		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97082625	97082625	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:97082625C>T	uc004aup.1	-	4	1254	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	411										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				CCCCTGTGTCCCCAGGGTGAG	0.622000														97			11		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122114506	122114506	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:122114506G>A	uc022akp.1	-	11	2337	c.1915C>T	c.(1915-1917)Cat>Tat	p.H639Y	CADPS2_uc003vkg.4_Missense_Mutation_p.H340Y|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Missense_Mutation_p.H640Y|CADPS2_uc022akr.1_Missense_Mutation_p.H643Y	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	643					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGGAAGGCATGATCAAGCTTG	0.393000														46			25		0	0	1	0	0
KIAA0146	23514	broad.mit.edu	37	8	48353039	48353039	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:48353039C>T	uc003xqd.3	+	7	1094	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	KIAA0146_uc011lcz.2_Non-coding_Transcript|KIAA0146_uc011lda.2_Silent_p.F33F|KIAA0146_uc011ldb.2_Silent_p.F344F|KIAA0146_uc010lxs.3_5'UTR|KIAA0146_uc011ldc.2_Silent_p.F274F|KIAA0146_uc011ldd.2_Silent_p.F284F|KIAA0146_uc003xqe.3_5'UTR|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Silent_p.F33F|KIAA0146_uc010lxt.3_Silent_p.F33F	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	344										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				AAGTTCTCTTCACCAAGGAGA	0.587000														56			23		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16992006	16992006	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:16992006G>A	uc001ioo.3	-	33	5126	c.5074C>T	c.(5074-5076)Ctc>Ttc	p.L1692F		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1692	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTACCTCGGAGGGGCGCGTCT	0.463000														18			4		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86814879	86814879	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:86814879G>A	uc002blz.1	+	13	1959	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	AGBL1_uc002bma.1_Missense_Mutation_p.E358K|AGBL1_uc002bmb.1_Missense_Mutation_p.E321K	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	627					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						TTCTGTGAAGGAGGCTCTTCT	0.443000														126			22		0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66258726	66258726	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66258726C>T	uc001oig.1	+	6	732	c.670C>T	c.(670-672)Cct>Tct	p.P224S	DPP3_uc001oif.1_Missense_Mutation_p.P224S|DPP3_uc010rpe.1_Missense_Mutation_p.P213S	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	224					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TTCCCCAGAGCCTTCCCTGGA	0.552000											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		161			13		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57340662	57340662	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57340662G>A	uc001cyo.2	+	2	344	c.212G>A	c.(211-213)gGa>gAa	p.G71E		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	71	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AAGTTTGGGGGAACCATCTGC	0.473000														31			14		0	0	1	0	0
GNG2	54331	broad.mit.edu	37	14	52433336	52433336	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:52433336C>T	uc001wzi.3	+	3	704	c.147C>T	c.(145-147)ccC>ccT	p.P49P	GNG2_uc001wzh.3_Non-coding_Transcript|GNG2_uc010aoc.2_Non-coding_Transcript|GNG2_uc021rte.1_Silent_p.P49P|GNG2_uc001wzj.3_Silent_p.P49P|GNG2_uc001wzk.3_Silent_p.P49P	NM_053064	NP_444292	P59768	GBG2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 2 (GNG2), transcript variant 1, mRNA.	49					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	AGGAAGACCCCCTCCTGACCC	0.522000														136			43		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2401996	2401996	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:2401996G>A	uc010xgx.2	+	3	436	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	TMPRSS9_uc002lvv.1_Missense_Mutation_p.E180K	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	146					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCTTGGCAGAAAGAGACTT	0.443000														211			61		0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55823374	55823374	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55823374C>T	uc002qkf.3	+	20	2450	c.2323C>T	c.(2323-2325)Ccc>Tcc	p.P775S	BRSK1_uc002qkg.3_Missense_Mutation_p.P759S|BRSK1_uc002qkh.3_Missense_Mutation_p.P454S	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	759					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GAGCAGCTCTCCCCGCCGAGG	0.741000														7			5		0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21385560	21385560	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:21385560G>A	uc002zud.3	-	1	610	c.542C>T	c.(541-543)tCt>tTt	p.S181F	SLC7A4_uc002zue.3_Missense_Mutation_p.S181F	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	181				THVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSS -> DPRGFLAGAPPGPLPGLPGCWHHPPWPLPLSPVEPACPP (in Ref. 1; CAA04263).	cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GACAAAGGCAGAGGCCAGGAG	0.597000														28			18		0	0	1	0	0
TTLL13	440307	broad.mit.edu	37	15	90799405	90799405	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90799405G>A	uc002bpd.1	+	5	869	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	TTLL13_uc002bpe.1_Intron	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	194	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GGTCGTCAGCGAAAAGCCCGC	0.557000														135			29		0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281525	125281525	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125281525C>T	uc011lyw.2	+	0	106	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GGGCATGTACCTGATCACGGT	0.572000														167			32		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35619167	35619167	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:35619167G>A	uc021rid.1	+	2	1144	c.610G>A	c.(610-612)Gga>Aga	p.G204R	NBEA_uc021ric.1_Missense_Mutation_p.G204R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	204						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)		CATGCTTCGAGGAGAAAGTGG	0.403000														21			6		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49446098	49446098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:49446098G>A	uc001jgi.3	-	7	1188	c.857C>T	c.(856-858)tCg>tTg	p.S286L	FRMPD2_uc001jgh.3_Missense_Mutation_p.S255L|FRMPD2_uc001jgj.3_Missense_Mutation_p.S255L	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	286					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			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)		GTCTGCTGCCGAGTGCACAGA	0.572000														77			39		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870386	51870386	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:51870386C>T	uc002xwo.3	+	1	1276	c.389C>T	c.(388-390)gCc>gTc	p.A130V	TSHZ2_uc021wex.1_Missense_Mutation_p.A127V	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	130					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A130S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCTGTCTACGCCAACATCCTG	0.527000														50			19		0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203819693	203819693	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203819693C>T	uc001hac.3	+	17	2606	c.1990C>T	c.(1990-1992)Ccc>Tcc	p.P664S	ZC3H11A_uc001had.3_Missense_Mutation_p.P664S|ZC3H11A_uc001hae.3_Missense_Mutation_p.P664S|ZC3H11A_uc001haf.3_Missense_Mutation_p.P664S|ZC3H11A_uc010pqm.2_Missense_Mutation_p.P610S	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	664							nucleic acid binding|protein binding|zinc ion binding	p.P664P(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTGTCATCCCCCAAATTGGC	0.488000														124			38		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136564845	136564845	+	Silent	SNP	C	T	T	rs150640616		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136564845C>T	uc002tuu.1	-	8	4037	c.4026G>A	c.(4024-4026)acG>acA	p.T1342T		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1342	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGGCCTGTTCGTGTTGTTGA	0.522000														79			47		0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48220034	48220034	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:48220034C>T	uc002phj.4	+	1	415	c.165C>T	c.(163-165)ttC>ttT	p.F55F	EHD2_uc010xyu.2_Intron	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	55					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		ACGCAGACTTCGACGGCAAGC	0.677000														25			13		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20522568	20522568	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:20522568G>A	uc001reh.2	+	0	390	c.350G>A	c.(349-351)gGa>gAa	p.G117E		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	117					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGGCCTCGGGGAGGTGCTCCC	0.706000														8			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215333	140215333	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140215333C>T	uc003lhq.2	+	0	1365	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	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_uc011dac.2_Silent_p.F455F	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	469	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.F455L(2)|p.T454S(1)		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)			CCCCGGCGTTCGCGCAGCCCG	0.677000														88			33		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55174518	55174518	+	Splice_Site	SNP	C	T	T	rs141935558		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55174518C>T	uc002qgp.3	+	1	396	c.34_splice	c.e1+1	p.G12_splice	LILRB4_uc002qgo.1_Splice_Site_p.G53_splice|LILRB4_uc002qgq.3_Splice_Site_p.G12_splice|LILRB4_uc010ers.1_Splice_Site|LILRB4_uc010ert.3_Splice_Site_p.G53_splice|LILRB4_uc010eru.3_Splice_Site_p.G53_splice	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.	12						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)		TGCTCTGCCTCGGTGAGATTT	0.577000											OREG0003670	type=REGULATORY REGION|Gene=LILRB4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		73			7		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353831	77353831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:77353831C>T	uc002ffc.4	-	15	2866	c.2447G>A	c.(2446-2448)gGg>gAg	p.G816E	ADAMTS18_uc010chc.1_Missense_Mutation_p.G404E|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G512E	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	816	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A815T(1)		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						AAACGTGGTCCCAGCGAAGGG	0.572000														82			12		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118374328	118374328	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118374328C>T	uc001pta.3	+	26	7735	c.7712C>T	c.(7711-7713)gCc>gTc	p.A2571V	MLL_uc001ptb.3_Missense_Mutation_p.A2574V	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2571					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GGTCCAGTGGCCCAACCAAGC	0.473000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									68			19		0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52858009	52858009	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52858009G>A	uc011bem.2	-	9	1211	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S	ITIH4_uc011bel.2_Missense_Mutation_p.P125S|ITIH4_uc003dfy.3_Missense_Mutation_p.P259S|ITIH4_uc003dfz.3_Missense_Mutation_p.P395S|ITIH4_uc011ben.2_Missense_Mutation_p.P395S	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	395	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATGCTCCTGGGGTTAGTCTCC	0.542000														50			15		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87970614	87970614	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:87970614C>G	uc003plm.4	+	7	7308	c.7267C>G	c.(7267-7269)Ctt>Gtt	p.L2423V		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACACCGAAATCTTCTTATTGT	0.353000														11			7		0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11862215	11862215	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:11862215G>A	uc002dbk.3	-	10	1514	c.1316C>T	c.(1315-1317)aCc>aTc	p.T439I	ZC3H7A_uc002dbj.3_5'Flank|ZC3H7A_uc002dbl.3_Missense_Mutation_p.T439I|ZC3H7A_uc002dbm.2_Missense_Mutation_p.T349I	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	439						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CAATTCATGGGTTCCTTCGAG	0.408000														126			55		0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49042403	49042403	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49042403C>T	uc003cvh.3	+	5	1346	c.997C>T	c.(997-999)Cct>Tct	p.P333S	P4HTM_uc003cvg.3_Missense_Mutation_p.P333S|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	333	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	L-ascorbic acid binding|calcium ion binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GGACAGTGGGCCTGTGTACCC	0.612000														56			25		0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76908153	76908153	+	Missense_Mutation	SNP	C	T	T	rs144226591	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:76908153C>T	uc003uga.3	+	11	1652	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W	CCDC146_uc010ldp.3_Missense_Mutation_p.R223W	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	509										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TGAAATTTATCGGAGGTAAAG	0.303000														31			5		0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	327976	327976	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:327976G>A	uc002lok.1	-	3	266	c.257C>T	c.(256-258)cCc>cTc	p.P86L		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	86					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)		CTCATCAAAGGGCATGTCGTT	0.617000														20			14		0	0	1	0	0
SCN4B	6330	broad.mit.edu	37	11	118015828	118015828	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118015828C>T	uc001pse.3	-	1	420	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	SCN4B_uc010rxu.2_5'UTR|SCN4B_uc010rxv.2_Intron	NM_174934	NP_001135821	Q8IWT1	SCN4B_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, beta (SCN4B), transcript variant 1, mRNA.	60	Ig-like C2-type.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		TCCTCGAAGCCAAAGCAGCTG	0.562000											OREG0021380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		164			59		0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129458122	129458122	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:129458122C>T	uc011maa.2	+	6	931	c.924C>T	c.(922-924)gtC>gtT	p.V308V	LMX1B_uc004bqi.3_Silent_p.V297V|LMX1B_uc004bqj.3_Silent_p.V297V	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	274					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CCCCAGAGGTCCTGTCCAGCC	0.667000									Nail-Patella Syndrome					26			10		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49420128	49420128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:49420128G>A	uc001jgi.3	-	12	1811	c.1480C>T	c.(1480-1482)Cac>Tac	p.H494Y	FRMPD2_uc001jgh.3_Missense_Mutation_p.H462Y|FRMPD2_uc001jgj.3_Missense_Mutation_p.H463Y	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	494	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			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)		TCTTCAACGTGAAAGTATGGC	0.517000														22			12		0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52790732	52790732	+	Missense_Mutation	SNP	C	T	T	rs142616498	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52790732C>T	uc001sai.1	-	5	1118	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	335	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TCCAGGATCTCGTTCTTACGG	0.557000														37			13		0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255709	70255709	+	Silent	SNP	C	T	T	rs149150723		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:70255709C>T	uc003tvw.4	+	18	4242	c.3507C>T	c.(3505-3507)tcC>tcT	p.S1169S	AUTS2_uc003tvx.4_Silent_p.S1145S|AUTS2_uc011keg.2_Silent_p.S621S	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	1169	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGCTCCACTCCGTGCACCCCG	0.701000														56			15		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39871124	39871124	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39871124G>A	uc010lwy.1	+	9	1041	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Missense_Mutation_p.E8K|IDO2_uc003xnp.1_Missense_Mutation_p.E8K	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	254					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GCTGATGTATGAAGGAGTTTC	0.483000														77			18		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35802512	35802512	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35802512C>T	uc003zyd.3	+	10	1723	c.1723C>T	c.(1723-1725)Cag>Tag	p.Q575*	NPR2_uc010mlb.3_Nonsense_Mutation_p.Q575*	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	575	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GAGAGATGTTCAGTTCAACCA	0.413000														61			7		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61843269	61843269	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61843269C>T	uc001jky.3	-	32	4519	c.4181G>A	c.(4180-4182)aGa>aAa	p.R1394K	ANK3_uc001jkw.3_Missense_Mutation_p.R528K|ANK3_uc009xpa.3_Missense_Mutation_p.R528K|ANK3_uc001jkx.3_Missense_Mutation_p.R572K|ANK3_uc010qih.2_Missense_Mutation_p.R1395K|ANK3_uc001jkz.4_Missense_Mutation_p.R1388K|ANK3_uc001jla.1_Missense_Mutation_p.R460K|ANK3_uc001jkv.3_5'Flank|ANK3_uc009xpb.1_5'Flank|ANK3_uc009xpc.1_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1394					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						AAATGGCAGTCTATTTTCTTT	0.303000														72			16		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135745671	135745671	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:135745671C>A	uc002tue.1	-	6	802	c.771G>T	c.(769-771)gaG>gaT	p.E257D	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.E144D|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_5'UTR|YSK4_uc002tui.4_Missense_Mutation_p.E274D	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	257							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATGGGCTGAGCTCATCAGATT	0.453000														90			37		4.92203e-23	4.95082e-23	1	1	0
CSF3R	1441	broad.mit.edu	37	1	36933525	36933525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:36933525G>A	uc001caw.2	-	13	2346	c.1762C>T	c.(1762-1764)Cat>Tat	p.H588Y	CSF3R_uc001cav.2_Missense_Mutation_p.H588Y|CSF3R_uc001cax.2_Missense_Mutation_p.H588Y	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	588	Fibronectin type-III 5.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCCAGGCCATGGAGGACAAAG	0.627000														61			6		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21702955	21702955	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21702955G>A	uc002djh.3	+	7	687	c.686G>A	c.(685-687)aGa>aAa	p.R229K	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.R150K	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	229					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CATTCCCAGAGAGCTCTCTAT	0.488000														51			10		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990484	63990484	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:63990484C>T	uc003peh.3	-	3	1006	c.972G>A	c.(970-972)aaG>aaA	p.K324K	LGSN_uc003pei.3_Missense_Mutation_p.R184K	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	324					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACATGTTTTTCTTCCTATCGA	0.453000														76			12		0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170235640	170235640	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:170235640G>A	uc003mau.3	+	7	914	c.716G>A	c.(715-717)cGg>cAg	p.R239Q	GABRP_uc011dev.2_Missense_Mutation_p.R239Q	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	239						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.R239W(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTGAGCTTCGGAGGAATGTT	0.423000														59			21		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155232579	155232579	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:155232579G>A	uc021xge.1	-	10	1806	c.1529C>T	c.(1528-1530)cCt>cTt	p.P510L	PLCH1_uc021xgd.1_Missense_Mutation_p.P510L|PLCH1_uc021xgf.1_Missense_Mutation_p.P492L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	510					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.A510T(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAAACTATCAGGATCTTCTTT	0.428000														46			13		0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127901570	127901570	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:127901570G>A	uc003qbh.3	+	2	561	c.549G>A	c.(547-549)atG>atA	p.M183I		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	183						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CTGAGACAATGAACAAGTGGA	0.398000														62			32		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179664562	179664562	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179664562C>T	uc021vsy.1	-	4	884	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	TTN_uc021vsz.1_Missense_Mutation_p.R220Q|TTN_uc021vta.1_Missense_Mutation_p.R220Q|TTN_uc021vtb.1_Missense_Mutation_p.R220Q|TTN_uc002unb.2_Missense_Mutation_p.R220Q|TTN_uc002und.3_Missense_Mutation_p.R220Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	220							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R220P(7)|p.R220R(1)		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)			CTTTTCAATTCGGGTTTGTCT	0.403000														47			22		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087887	9087887	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9087887G>A	uc002mkp.3	-	0	4132	c.3928C>T	c.(3928-3930)Cct>Tct	p.P1310S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1310	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						GTCTCTCCAGGAGCTGTCATC	0.507000														65			24		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169523	207169523	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:207169523G>A	uc002vbp.2	+	4	521	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	91	Poly-Glu.						nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGAAGAAGAGGAAGAGGATGA	0.438000														41			9		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674254	4674254	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4674254C>T	uc021qcq.1	+	0	498	c.498C>T	c.(496-498)atC>atT	p.I166I	OR51E1_uc001lzi.4_Silent_p.I166I	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I165M(4)		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)		CTGTCTTCATCAAGCAGCTGC	0.552000														127			41		0	0	1	0	0
MIR155HG	114614	broad.mit.edu	37	21	26946395	26946395	+	RNA	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:26946395T>C	uc002ylm.4	+	2		c.389T>C								Homo sapiens MIR155 host gene (non-protein coding) (MIR155HG), non-coding RNA.																		TGGAACAAATTGCTGCCGTGG	0.398000														16			3		0	0	1	0	0
C16orf90	646174	broad.mit.edu	37	16	3544772	3544772	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3544772C>T	uc002cvi.3	-	1	152	c.152G>A	c.(151-153)gGa>gAa	p.G51E		NM_001080524	NP_001073993	A8MZG2	CP090_HUMAN	Homo sapiens chromosome 16 open reading frame 90 (C16orf90), mRNA.	41										large_intestine(1)	1						GGGCTTGCTTCCCTGGGCACT	0.716000														10			7		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768863	57768863	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:57768863C>T	uc002yan.3	+	0	2789	c.2789C>T	c.(2788-2790)tCt>tTt	p.S930F		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	930						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGAGTGCTCTCTGCCCTGGCA	0.642000														58			27		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57425826	57425826	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57425826C>T	uc001cyp.3	-	1	183	c.116G>A	c.(115-117)gGg>gAg	p.G39E	C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_5'UTR	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	39					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGCATTTGACCCAAAGGAATG	0.428000														94			8		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78073340	78073340	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:78073340C>T	uc010dht.3	+	19	3226	c.3195C>T	c.(3193-3195)atC>atT	p.I1065I	CCDC40_uc002jxm.4_Silent_p.I848I|CCDC40_uc002jxn.4_Silent_p.I461I|GAA_uc002jxp.3_5'Flank|GAA_uc002jxo.3_5'Flank|GAA_uc002jxq.3_5'Flank	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	1065					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TTTCAGAGATCGTGGCCCTGC	0.562000														59			21		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269936	150269936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150269936G>A	uc003whl.3	+	2	860	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	GIMAP4_uc011kuu.2_Missense_Mutation_p.E121K|GIMAP4_uc011kuv.2_Missense_Mutation_p.E274K	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	260							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGAGGAGTATGAAGAGAAAAT	0.468000														45			6		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119124924	119124924	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:119124924C>T	uc004bjn.3	+	17	4782	c.4401C>T	c.(4399-4401)tcC>tcT	p.S1467S	PAPPA_uc011lxq.2_Silent_p.S842S	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1467	Sushi 4.				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						GGAACGGCTCCTTCCATGTCT	0.532000														67			26		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65676400	65676400	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65676400G>A	uc002aou.1	-	19	3910	c.3700C>T	c.(3700-3702)Cct>Tct	p.P1234S	IGDCC4_uc002aot.1_Missense_Mutation_p.P822S	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	1234						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GCTCCTAGAGGGCAGGGGGAT	0.632000														24			7		0	0	1	0	0
CCDC69	26112	broad.mit.edu	37	5	150578630	150578630	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:150578630C>T	uc003ltq.3	-	3	370	c.247G>A	c.(247-249)Gag>Aag	p.E83K	CCDC69_uc010jhu.3_5'UTR|CCDC69_uc011dcq.2_Non-coding_Transcript	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	Homo sapiens coiled-coil domain containing 69 (CCDC69), mRNA.	83										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTCTAGCTCCCTTTCCTTC	0.557000														127			45		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531727	92531727	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92531727C>T	uc001pdj.4	+	8	5565	c.5548C>T	c.(5548-5550)Cat>Tat	p.H1850Y		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1850	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTCCATTTTCATGTGCATGT	0.463000										TCGA Ovarian(4;0.039)				25			8		0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95307561	95307561	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:95307561T>G	uc001dqv.4	+	7	873	c.766T>G	c.(766-768)Tgc>Ggc	p.C256G	SLC44A3_uc001dqx.4_Missense_Mutation_p.C256G|SLC44A3_uc010otq.2_Missense_Mutation_p.C188G|SLC44A3_uc010otr.2_Missense_Mutation_p.C220G|SLC44A3_uc001dqw.4_Missense_Mutation_p.C208G|SLC44A3_uc010ots.2_Missense_Mutation_p.C176G|SLC44A3_uc009wds.3_Missense_Mutation_p.C159G|SLC44A3_uc010ott.2_Missense_Mutation_p.C176G|SLC44A3_uc010otu.1_Non-coding_Transcript	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	256						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TCTAGTTGTCTGCGGTGTTTT	0.483000														235			70		0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27260509	27260509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27260509C>T	uc002ria.4	+	8	1201	c.1091C>T	c.(1090-1092)aCc>aTc	p.T364I	TMEM214_uc002rib.4_Missense_Mutation_p.T319I	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	364						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ACCCTGCATACCTACTTCCCT	0.577000														113			49		0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150721387	150721387	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150721387C>T	uc011kvc.2	-	0	200	c.124G>A	c.(124-126)Gga>Aga	p.G42R	ATG9B_uc003wig.4_5'Flank	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	42	Pro-rich.				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCCAGGTCCCCGGCATGAA	0.672000														9			4		0	0	1	0	0
GSR	2936	broad.mit.edu	37	8	30567359	30567359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:30567359G>A	uc003xih.2	-	2	528	c.394C>T	c.(394-396)Cca>Tca	p.P132S	GSR_uc022ato.1_Missense_Mutation_p.P132S|GSR_uc022atp.1_Missense_Mutation_p.P132S|GSR_uc022atq.1_Missense_Mutation_p.P132S	NM_000637	NP_000628	P00390	GSHR_HUMAN	Homo sapiens glutathione reductase (GSR), transcript variant 1, mRNA.	132					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TCACAACTTGGAAAGCCATAA	0.363000														33			9		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57924639	57924639	+	Missense_Mutation	SNP	C	T	T	rs138018355	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:57924639C>T	uc002aei.3	+	6	817	c.686C>T	c.(685-687)tCg>tTg	p.S229L	GCOM1_uc002aej.3_Missense_Mutation_p.S229L|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.S229L|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.S229L	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	229					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TAGGTGGAATCGTCCCAAGAA	0.517000														113			43		0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138219307	138219307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:138219307C>T	uc003esl.3	-	14	1669	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	CEP70_uc011bmk.2_Missense_Mutation_p.E471K|CEP70_uc011bml.2_Missense_Mutation_p.E473K|CEP70_uc011bmm.2_Missense_Mutation_p.E339K|CEP70_uc003esm.3_Missense_Mutation_p.E491K	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	491					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GTATAAACTTCATTCATTCGG	0.383000														274			74		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6999962	6999962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:6999962C>T	uc002knm.3	-	30	4511	c.4417G>A	c.(4417-4419)Gat>Aat	p.D1473N	LAMA1_uc010wzj.2_Missense_Mutation_p.D949N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1473	Laminin EGF-like 16.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAACGGAAATCGTGGTCCCCT	0.423000														41			19		0	0	1	0	0
C9orf152	401546	broad.mit.edu	37	9	112963672	112963672	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:112963672T>C	uc011lwk.2	-	1	830	c.276A>G	c.(274-276)gaA>gaG	p.E92E	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	92										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AATCTGCCTCTTCCAGGGACA	0.552000														49			10		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111077171	111077171	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:111077171G>A	uc001vqx.3	+	4	560	c.271G>A	c.(271-273)Ggt>Agt	p.G91S		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	91					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGAGACAAGGGTGAAAGGGG	0.637000														64			25		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50546582	50546582	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50546582G>A	uc003bjj.3	+	3	543	c.460G>A	c.(460-462)Gga>Aga	p.G154R	MOV10L1_uc003bjk.4_Missense_Mutation_p.G154R|MOV10L1_uc011arp.2_Missense_Mutation_p.G134R|MOV10L1_uc010han.3_Missense_Mutation_p.G134R	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	154					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding	p.G154R(2)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GCCCTGCAAGGGAGACTGGGT	0.532000														28			11		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122808458	122808458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:122808458C>T	uc003vkm.3	-	5	655	c.630G>A	c.(628-630)ggG>ggA	p.G210G	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	210						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTGAAATTTTCCCTGTATCAT	0.254000														78			16		0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64504407	64504407	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64504407C>T	uc009ypu.3	-	8	1140	c.913G>A	c.(913-915)Ggt>Agt	p.G305S	RASGRP2_uc001oat.3_Missense_Mutation_p.G207S|RASGRP2_uc001oau.3_Missense_Mutation_p.G160S|RASGRP2_uc009ypv.3_Missense_Mutation_p.G305S|RASGRP2_uc009ypw.3_Missense_Mutation_p.G305S	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	305	Ras-GEF.				Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGTGCACACCCAGGATCGGG	0.652000														34			13		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90503081	90503081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90503081G>A	uc004app.4	+	3	3714	c.3679G>A	c.(3679-3681)Gcc>Acc	p.A1227T		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1227						integral to membrane											GACCTCTGAAGCCAGTGGGAG	0.597000														26			4		0	0	1	0	0
GBAS	2631	broad.mit.edu	37	7	56065061	56065061	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:56065061T>G	uc003tre.2	+	8	748	c.715T>G	c.(715-717)Tac>Gac	p.Y239D	GBAS_uc003trf.2_Missense_Mutation_p.Y200D	NM_001483	NP_001474	O75323	NIPS2_HUMAN	Homo sapiens glioblastoma amplified sequence (GBAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	239						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTTTTAAGCTTACAGGGATCT	0.418000														83			32		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995456	140995456	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140995456C>T	uc004fbt.3	+	3	2590	c.2266C>T	c.(2266-2268)Ccc>Tcc	p.P756S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P415S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	756							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)					TTTGAGTCTTCCCCAGAGTTT	0.547000										HNSCC(15;0.026)				101			96		0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61034973	61034973	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:61034973G>A	uc001nra.3	-	15	2205	c.1926C>T	c.(1924-1926)ttC>ttT	p.F642F	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	642	VWFC 5.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCACAGACGGGAAGGTCTCGT	0.597000														76			21		0	0	1	0	0
MFSD2B	388931	broad.mit.edu	37	2	24239784	24239784	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:24239784C>T	uc002reo.2	+	3	431	c.417C>T	c.(415-417)agC>agT	p.S139S	MFSD2B_uc010exz.2_Non-coding_Transcript	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	139					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCTTCACCAGCCTGCGAGGCC	0.662000														81			6		0	0	1	0	0
FBXW4	6468	broad.mit.edu	37	10	103433321	103433321	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:103433321G>A	uc001kto.3	-	2	812	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L		NM_022039	NP_071322	P57775	FBXW4_HUMAN	Homo sapiens F-box and WD repeat domain containing 4 (FBXW4), mRNA.	156					Wnt receptor signaling pathway|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		AAGACTCCCAGAGGCCGACGA	0.512000														166			42		0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32774912	32774912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:32774912G>A	uc003jhv.3	+	3	1603	c.1158G>A	c.(1156-1158)ggG>ggA	p.G386G	NPR3_uc010iuo.3_Silent_p.G170G|NPR3_uc003jhw.2_Silent_p.G170G|NPR3_uc003jhu.3_Silent_p.G386G	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	386					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AGGATGGAGGGAAAATTATAC	0.443000														114			62		0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66204583	66204583	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:66204583C>T	uc011dxu.1	-	3	1259	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	EYS_uc003peq.3_Missense_Mutation_p.E241K|EYS_uc003per.1_Missense_Mutation_p.E241K|EYS_uc021zbn.1_Missense_Mutation_p.E241K|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	241	EGF-like 2.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CAGACACATTCATATGCTTGC	0.299000														9			5		0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52367790	52367790	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:52367790C>T	uc003joy.3	+	17	2401	c.2258C>T	c.(2257-2259)tCt>tTt	p.S753F	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.S677F|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	753					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTTGTCAACTCTTTGGATTTG	0.453000														43			19		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228559601	228559601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228559601C>T	uc009xez.1	+	93	21166	c.21122C>T	c.(21121-21123)tCt>tTt	p.S7041F	OBSCN_uc001hsr.1_Missense_Mutation_p.S1670F	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7041	Pro-rich.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGCAGGGTTCTGCCCCCCAG	0.672000														27			12		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57351663	57351663	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57351663G>A	uc001cyo.2	+	6	1051	c.919G>A	c.(919-921)Gac>Aac	p.D307N		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	307	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGGAAGGATGACATTATGCT	0.403000														66			21		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74631996	74631996	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74631996G>A	uc002axt.2	-	5	1244	c.1089C>T	c.(1087-1089)gcC>gcT	p.A363A	CYP11A1_uc002axs.2_Silent_p.A205A|CYP11A1_uc010bjm.1_Silent_p.A205A|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010bjp.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_Silent_p.A143A	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	363					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TGTCTCCCTGGGCCTGGTGCC	0.612000														35			36		0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58606038	58606038	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:58606038G>A	uc010tro.2	-	2	351	c.153C>T	c.(151-153)ttC>ttT	p.F51F	C14orf37_uc001xdc.3_Silent_p.F13F|C14orf37_uc001xdd.3_Silent_p.F13F|C14orf37_uc001xde.3_Silent_p.F13F	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	13						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GAAGGCTACAGAAAGCCAGAC	0.473000														68			39		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99514193	99514193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:99514193G>A	uc003dti.1	+	2	1579	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G483E|COL8A1_uc003dth.1_Missense_Mutation_p.G483E	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	483	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGACCTAAGGGAGAGCCAGGA	0.627000														9			4		0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486595	125486595	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125486595G>A	uc004bmu.1	+	0	327	c.327G>A	c.(325-327)ggG>ggA	p.G109G		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G109R(2)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGGCATTTGGGAACACTGACA	0.483000														140			9		0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17488061	17488061	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17488061G>A	uc002ngk.1	-	0	77	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	13						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCCCCGCCCGAGCGTAGGAC	0.652000														126			12		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170063345	170063345	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170063345C>T	uc002ues.3	-	38	7098	c.6885G>A	c.(6883-6885)agG>agA	p.R2295R		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2295					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTTCAAATTCCTATCTACCC	0.413000														74			37		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25283504	25283504	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25283504C>T	uc010aaa.3	+	17	2847	c.2514C>T	c.(2512-2514)atC>atT	p.I838I	ATP12A_uc001upp.3_Silent_p.I832I	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	832					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.A838V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CCCTCTAGATCCCCTCCATTG	0.592000														81			16		0	0	1	0	0
FBXO32	114907	broad.mit.edu	37	8	124553147	124553147	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:124553147G>A	uc003yqr.3	-	0	347	c.108C>T	c.(106-108)gaC>gaT	p.D36D	FBXO32_uc010mdk.3_Silent_p.D36D	NM_058229	NP_680482	Q969P5	FBX32_HUMAN	Homo sapiens F-box protein 32 (FBXO32), transcript variant 1, mRNA.	36										autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACCTGCTGAGGTCGCTCACGA	0.687000														25			11		0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131072886	131072886	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:131072886G>A	uc003yta.2	-	27	3359	c.3131C>T	c.(3130-3132)tCc>tTc	p.S1044F	ASAP1_uc003ysz.2_Missense_Mutation_p.S855F|ASAP1_uc011liw.2_Missense_Mutation_p.S1037F	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	1044					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GAGGTCGTTGGAGTCTTCAGA	0.532000														199			26		0	0	1	0	0
TMEM245	23731	broad.mit.edu	37	9	111812952	111812952	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:111812952G>A	uc004bdt.4	-	12	1907	c.1875C>T	c.(1873-1875)atC>atT	p.I625I	TMEM245_uc022bln.1_Silent_p.I177I|TMEM245_uc004bds.4_Non-coding_Transcript	NM_032012	NP_114401	Q9H330	CI005_HUMAN	Homo sapiens chromosome 9 open reading frame 5 (C9orf5), mRNA.	625						integral to membrane											GGCTCATAACGATCCACAGAG	0.458000														37			15		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364688	5364688	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5364688G>A	uc001map.1	-	0	67	c.67C>T	c.(67-69)Cac>Tac	p.H23Y	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.H23Y	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAATCCAGTGATGAGCTTCC	0.433000														43			12		0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76777849	76777849	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:76777849G>A	uc004ecp.4	-	31	7099	c.6867C>T	c.(6865-6867)ttC>ttT	p.F2289F	ATRX_uc004ecq.4_Silent_p.F2251F|ATRX_uc004eco.4_Silent_p.F2074F	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2289					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.R2288R(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)	TTGGTATGTTGAAACGCATGG	0.368000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							27			39		0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54963142	54963142	+	Silent	SNP	C	T	T	rs151025806	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54963142C>T	uc001sgd.2	+	3	795	c.402C>T	c.(400-402)ttC>ttT	p.F134F	PDE1B_uc010soz.2_5'UTR|PDE1B_uc010spa.1_Silent_p.F93F|PDE1B_uc001sge.3_Silent_p.F114F|PDE1B_uc001sgf.3_5'UTR|PDE1B_uc009znq.3_Intron	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	134					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CTGGGATCTTCGTGGAACGGT	0.622000														32			11		0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3638758	3638758	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3638758G>A	uc001akp.3	+	4	713	c.603G>A	c.(601-603)agG>agA	p.R201R	TP73_uc021ofb.1_Silent_p.R201R|TP73_uc021ofc.1_Silent_p.R201R|TP73_uc021ofd.1_Silent_p.R201R|TP73_uc021ofe.1_Silent_p.R201R|TP73_uc021off.1_Silent_p.R201R|TP73_uc010nzj.2_Silent_p.R152R|TP73_uc021ofg.1_Silent_p.R152R|TP73_uc021ofh.1_Silent_p.R152R|TP73_uc021ofi.1_Silent_p.R152R|TP73_uc001akr.3_Silent_p.R152R|TP73_uc009vlk.2_Silent_p.R152R|TP73_uc001aks.3_Silent_p.R152R|TP73_uc010nzk.2_Silent_p.R130R	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	201	DNA-binding (Potential).				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|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		AGCTCGGGAGGGACTTCAACG	0.662000														29			13		0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499314	150499314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150499314C>T	uc003whx.1	+	2	264	c.186C>T	c.(184-186)atC>atT	p.I62I	TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176B_uc003whw.4_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	62						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATGCAGATCGTGCTGGGGA	0.562000														48			17		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20269523	20269523	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:20269523G>A	uc002wru.3	+	22	3181	c.3067G>A	c.(3067-3069)Gag>Aag	p.E1023K	C20orf26_uc002wrw.3_Intron	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	1023								p.T1022T(1)		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)		GCCTGTGACCGAGCCACCAGC	0.483000														44			15		0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155235133	155235133	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:155235133C>T	uc004fnv.1	+	5	949	c.770C>T	c.(769-771)cCc>cTc	p.P257L	IL9R_uc010nvn.2_Missense_Mutation_p.P236L|IL9R_uc004fnu.1_Missense_Mutation_p.P292L	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	257					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTCCAGGCTCCCCAGAGACAA	0.617000														31			9		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149227596	149227596	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:149227596C>T	uc002twm.4	+	8	3081	c.2084C>T	c.(2083-2085)tCa>tTa	p.S695L	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_Missense_Mutation_p.S136L	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	695						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GGTCAGGGTTCATTTCCCATC	0.468000														64			24		0	0	1	0	0
TMEM35	59353	broad.mit.edu	37	X	100349772	100349772	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:100349772C>T	uc004egw.3	+	1	487	c.331C>T	c.(331-333)Cct>Tct	p.P111S		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	Homo sapiens transmembrane protein 35 (TMEM35), mRNA.	111						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane		p.P111L(1)		NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GGTCGGTGATCCTCTCAAACG	0.567000														46			45		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190195323	190195323	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:190195323G>A	uc001gse.1	-	5	1082	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	FAM5C_uc010pot.1_Missense_Mutation_p.P182S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	284						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)					GGAAATTTGGGACCACAGTGA	0.438000														61			20		0	0	1	0	0
AHSP	51327	broad.mit.edu	37	16	31539891	31539891	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31539891G>A	uc002ecj.3	+	2	273	c.188G>A	c.(187-189)cGa>cAa	p.R63Q		NM_016633	NP_057717	Q9NZD4	AHSP_HUMAN	Homo sapiens alpha hemoglobin stabilizing protein (AHSP), mRNA.	63					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						CCCCAAGAGCGAGACAAGGCT	0.547000														41			28		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116429355	116429355	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:116429355G>A	uc001tvw.3	-	16	3459	c.3404C>T	c.(3403-3405)gCc>gTc	p.A1135V		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1135					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CATGTTGCAGGCACAGATGCA	0.483000														60			37		0	0	1	0	0
MTAP	4507	broad.mit.edu	37	9	21854633	21854633	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21854633C>T	uc003zph.3	+	5	567	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	MTAP_uc003zpi.1_Intron|MTAP_uc010mit.3_Non-coding_Transcript|MTAP_uc011lnk.2_Missense_Mutation_p.L169F|MTAP_uc011lnl.2_Missense_Mutation_p.L85F	NM_002451	NP_002442	Q13126	MTAP_HUMAN	Homo sapiens methylthioadenosine phosphorylase (MTAP), mRNA.	152					nucleoside metabolic process	cytoplasm	S-methyl-5-thioadenosine phosphorylase activity|phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	TTTCTAGGTTCTTATAGAGAC	0.443000														91			11		0	0	1	0	0
MRPL21	219927	broad.mit.edu	37	11	68664142	68664142	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:68664142G>A	uc010rqe.1	-	3	262	c.237C>T	c.(235-237)gtC>gtT	p.V79V	MRPL21_uc001ooh.3_5'UTR|MRPL21_uc001ooi.3_Silent_p.V79V	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	Homo sapiens mitochondrial ribosomal protein L21 (MRPL21), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	79					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTTCTTCACGACCTCTGCAG	0.632000														100			27		0	0	1	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160803840	160803840	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:160803840G>A	uc003fdv.3	-	4	1122	c.703C>T	c.(703-705)Cct>Tct	p.P235S	B3GALNT1_uc003fdw.3_Missense_Mutation_p.P235S|B3GALNT1_uc003fdx.3_Missense_Mutation_p.P235S|B3GALNT1_uc003fdy.3_Missense_Mutation_p.P235S|B3GALNT1_uc003fdz.3_Missense_Mutation_p.P235S|B3GALNT1_uc003fea.3_Missense_Mutation_p.P235S|B3GALNT1_uc011bpa.2_Intron|B3GALNT1_uc021xgw.1_Missense_Mutation_p.P235S	NM_033169	NP_149359	O75752	B3GL1_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.	235					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			CAGTATGGAGGGAACACCTTG	0.378000														74			25		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20552473	20552473	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:20552473C>T	uc003gpr.1	+	24	2717	c.2513C>T	c.(2512-2514)tCt>tTt	p.S838F	SLIT2_uc003gps.1_Missense_Mutation_p.S830F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	838					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AATGACATTTCTGTTGTGCCT	0.343000														67			21		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107360822	107360822	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107360822C>T	uc011lvp.2	-	0	873	c.873G>A	c.(871-873)atG>atA	p.M291I		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TTAAAGGATTCATCATGGGAG	0.373000														82			6		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112705119	112705119	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:112705119G>A	uc004bei.2	+	6	842	c.650G>A	c.(649-651)gGa>gAa	p.G217E	PALM2-AKAP2_uc004beg.3_Missense_Mutation_p.G185E|PALM2-AKAP2_uc004beh.4_Missense_Mutation_p.G217E|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	483							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GTGCGCTCAGGAGGCACCGTA	0.468000														44			4		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142188379	142188379	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:142188379C>T	uc003eux.4	-	37	6474	c.6352G>A	c.(6352-6354)Gat>Aat	p.D2118N	ATR_uc003euy.1_Missense_Mutation_p.D4N	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2118	FAT.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTACCCAAATCATTCCTCATT	0.343000								Other conserved DNA damage response genes						83			31		0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44598104	44598104	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44598104G>A	uc002xqw.3	-	2	551	c.428C>T	c.(427-429)cCc>cTc	p.P143L	ZNF335_uc010zxk.2_Intron|ZNF335_uc002xqx.1_Missense_Mutation_p.P111L|ZNF335_uc002xqy.3_5'Flank	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GATGAGGTCGGGCCCGATGGT	0.622000														31			4		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48596379	48596379	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48596379G>A	uc010wmr.2	+	5	988	c.826G>A	c.(826-828)Gag>Aag	p.E276K	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	239					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GCACACCGGGGAGACCTACAG	0.582000														50			19		0	0	1	0	0
CREB3L1	90993	broad.mit.edu	37	11	46342292	46342292	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:46342292C>T	uc021qil.1	+	11	1990	c.1555C>T	c.(1555-1557)Cct>Tct	p.P519S	CREB3L1_uc021qik.1_Missense_Mutation_p.S519F|CREB3L1_uc001ncg.3_Missense_Mutation_p.P153S	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	168					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		ATCAAACTCTCCTAGGCCATG	0.592000			T	FUS	myxofibrosarcoma									13			9		0	0	1	0	0
TNP2	7142	broad.mit.edu	37	16	11361859	11361859	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:11361859G>A	uc002das.3	-	1	452	c.411C>T	c.(409-411)tcC>tcT	p.S137S	RMI2_uc002daq.1_Intron	NM_005425	NP_005416	Q05952	STP2_HUMAN	Homo sapiens transition protein 2 (during histone to protamine replacement) (TNP2), mRNA.	137					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						CTCATTAGTTGGATTTCCATC	0.443000														12			8		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38861371	38861371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38861371C>T	uc002oih.4	+	28	3506	c.3419C>T	c.(3418-3420)tCc>tTc	p.S1140F	CATSPERG_uc002oig.4_Missense_Mutation_p.S1100F|CATSPERG_uc002oif.4_Missense_Mutation_p.S780F|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	1140					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ATGTTCAGCTCCAGGATGACA	0.562000														114			26		0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22945069	22945069	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22945069C>T	uc001yus.3	+	11	1244	c.1140C>T	c.(1138-1140)gcC>gcT	p.A380A	CYFIP1_uc001yut.3_Silent_p.A380A|CYFIP1_uc010aya.1_Silent_p.A408A	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	380					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCCAGGAGGCCCAGAAGACGG	0.701000														5			3		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29432720	29432720	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29432720G>A	uc002rmy.3	-	24	4720	c.3768C>T	c.(3766-3768)ctC>ctT	p.L1256L	ALK_uc010ymo.2_Silent_p.L188L	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1256	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GACAGGTCAAGAGGCAGTTTC	0.507000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					44			16		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233313560	233313560	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233313560C>T	uc001hvl.2	-	16	3496	c.3261G>A	c.(3259-3261)atG>atA	p.M1087I	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.	1087						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)				CTGAATCTTTCATCTTCTTGG	0.463000														33			15		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87645063	87645063	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:87645063C>T	uc003ydx.3	-	10	1285	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	CNGB3_uc010maj.3_Missense_Mutation_p.E275K	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	413					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GTTTGTGGTTCTGGAAGGCCA	0.323000														44			17		0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54570741	54570741	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:54570741G>A	uc003jpx.3	-	14	2645	c.2525C>T	c.(2524-2526)cCt>cTt	p.P842L	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	842							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GATTTTATGAGGATTCATGTA	0.358000														154			54		0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713809	32713809	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32713809G>A	uc003obx.3	+	2	631	c.573G>A	c.(571-573)gtG>gtA	p.V191V		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	191	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTGCAAGGTGGAGCACTGGG	0.473000														216			15		0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	70080744	70080744	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:70080744G>A	uc004dyl.3	-	5	494	c.332C>T	c.(331-333)tCa>tTa	p.S111L	TEX11_uc004dym.3_Missense_Mutation_p.S96L	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	111							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TGAGGCAAATGAGGCTTCACA	0.338000														13			21		0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58275715	58275715	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:58275715G>A	uc002iyo.1	-	26	3626	c.3340C>T	c.(3340-3342)Cgg>Tgg	p.R1114W	USP32_uc002iyn.1_Missense_Mutation_p.R784W	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	1114					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCTTTCTTCCGGGTATGCACA	0.478000														122			50		0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48145556	48145556	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48145556G>A	uc001rpz.4	-	3	880	c.330C>T	c.(328-330)gcC>gcT	p.A110A	RAPGEF3_uc009zkp.3_Silent_p.A68A|RAPGEF3_uc009zkq.3_Silent_p.A68A|RAPGEF3_uc009zkr.2_Intron|RAPGEF3_uc009zks.2_Silent_p.A122A|RAPGEF3_uc001rqb.3_Silent_p.A110A	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	68					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TTGGGCAGGTGGCCAGCAGAT	0.627000														43			12		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17449880	17449880	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17449880G>A	uc001mnc.3	-	13	2122	c.1996C>T	c.(1996-1998)Ctg>Ttg	p.L666L		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	666					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTGGGGACCAGGCTCTGCAGT	0.657000														122			25		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61828486	61828486	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61828486C>T	uc001jky.3	-	36	12491	c.12153G>A	c.(12151-12153)acG>acA	p.T4051T	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.	4051					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						TAGCAGACTTCGTTGTAACCG	0.478000														166			66		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873041	36873041	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36873041G>A	uc003cgj.3	-	20	8149	c.7901C>T	c.(7900-7902)cCt>cTt	p.P2634L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2634					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTAGTCCACAGGGTCCAAACA	0.542000														11			5		0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26203890	26203890	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:26203890G>A	uc002rgu.2	-	0	1554	c.897C>T	c.(895-897)gcC>gcT	p.A299A	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Silent_p.A299A	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	299	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.S298F(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTTGCCCAGGGCAGATAATG	0.637000														42			10		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38921528	38921528	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38921528G>A	uc021wvy.1	-	18	3505	c.3306C>T	c.(3304-3306)atC>atT	p.I1102I	SCN11A_uc010hhn.1_Silent_p.I180I	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1102					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCATCTCCAGGATAAAAATAT	0.348000														34			17		0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122387215	122387215	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:122387215G>A	uc004etq.4	+	2	622	c.330G>A	c.(328-330)atG>atA	p.M110I	GRIA3_uc004etr.4_Missense_Mutation_p.M110I|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.M94I	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	110					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AGATGTCAATGAACACCCTGA	0.498000														50			73		0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7867834	7867834	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7867834C>T	uc001qtf.3	+	1	216	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	46						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		ACTTGACTATCAACGCTAGTA	0.458000														102			14		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55444993	55444993	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55444993C>T	uc002qih.4	-	7	2662	c.2586G>A	c.(2584-2586)ggG>ggA	p.G862G	NLRP7_uc010esk.3_Silent_p.G862G|NLRP7_uc002qig.4_Silent_p.G834G|NLRP7_uc002qii.4_Silent_p.G862G|NLRP7_uc010esl.3_Silent_p.G890G	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	862							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAAACTTCACCCCTGTATCCC	0.507000														63			25		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78071191	78071191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:78071191C>T	uc010dht.3	+	18	3200	c.3169C>T	c.(3169-3171)Ctc>Ttc	p.L1057F	CCDC40_uc002jxm.4_Missense_Mutation_p.L840F|CCDC40_uc002jxn.4_Missense_Mutation_p.L453F	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	1057					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTTGGGGCCCTCAAACGACA	0.592000														39			10		0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116067573	116067573	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:116067573C>T	uc001lbn.3	-	9	1364	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	AFAP1L2_uc001lbo.3_Missense_Mutation_p.E355K|AFAP1L2_uc010qse.2_Missense_Mutation_p.E408K|AFAP1L2_uc001lbp.3_Missense_Mutation_p.E383K|AFAP1L2_uc001lbr.1_Missense_Mutation_p.E355K|AFAP1L2_uc010qsd.2_5'Flank	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	355	PH 2.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTGGATGTCTCGAGGGACCTC	0.542000														54			15		0	0	1	0	0
TMEM154	201799	broad.mit.edu	37	4	153564299	153564299	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:153564299G>A	uc003imw.2	-	4	651	c.419C>T	c.(418-420)tCt>tTt	p.S140F		NM_152680	NP_689893	Q6P9G4	TM154_HUMAN	Homo sapiens transmembrane protein 154 (TMEM154), mRNA.	140						integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTCCATAACAGAGGGTGTATC	0.338000														81			19		0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44272158	44272158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:44272158C>T	uc010xcy.1	-	3	961	c.393G>A	c.(391-393)atG>atA	p.M131I	ST8SIA5_uc002lci.1_5'UTR|ST8SIA5_uc002lcj.1_Missense_Mutation_p.M95I|ST8SIA5_uc010xcz.1_Missense_Mutation_p.M64I|ST8SIA5_uc010dno.1_Missense_Mutation_p.M131I	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	95					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		p.L130I(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAGAGATGTTCATCGCCCATT	0.507000														59			21		0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5227059	5227059	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:5227059C>T	uc009xhz.2	-	0		c.92G>A								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCTTCAGATCCGTCATCATCC	0.507000														43			20		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53232924	53232924	+	Silent	SNP	C	T	T	rs140251181		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53232924C>T	uc001sbc.1	-	8	1600	c.1536G>A	c.(1534-1536)tcG>tcA	p.S512S		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	512	Tail.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TCTTCAGACTCGACTCAACTG	0.582000														16			9		0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158900900	158900900	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:158900900C>T	uc003qrf.3	+	6	2501	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	TULP4_uc011efo.2_Nonsense_Mutation_p.Q382*|TULP4_uc003qrg.3_Nonsense_Mutation_p.Q382*	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	382	SOCS box.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCTGCTGTGCCAGCAGGCCAT	0.647000														31			22		0	0	1	0	0
MRAP	56246	broad.mit.edu	37	21	33684082	33684082	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:33684082G>A	uc002ypj.3	+	4	481	c.294G>A	c.(292-294)agG>agA	p.R98R	MRAP_uc002ypk.3_Intron|URB1_uc002ypn.2_3'UTR|MRAP_uc011ado.2_Silent_p.R39R|MRAP_uc002ypl.3_Silent_p.R98R	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein (MRAP), transcript variant 1, mRNA.	98					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			endometrium(1)|large_intestine(2)|lung(3)	6						CGTGCCACAGGGAACCCCTGG	0.632000														63			41		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63174098	63174098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63174098G>A	uc001nww.3	+	6	1471	c.1203G>A	c.(1201-1203)ctG>ctA	p.L401L	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.	401					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTTGGGCACTGAAATACATGA	0.483000														100			10		0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39798511	39798511	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39798511C>T	uc002okw.2	-	1	2078	c.2078G>A	c.(2077-2079)gGa>gAa	p.G693E		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	693						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGCCGCGGCTCCCCCAGGAAC	0.721000														9			5		0	0	1	0	0
NT5C3L	115024	broad.mit.edu	37	17	39985108	39985108	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39985108G>A	uc021txo.1	-	6	579	c.501C>T	c.(499-501)atC>atT	p.I167I	NT5C3L_uc021txn.1_Silent_p.I159I|NT5C3L_uc002hxy.4_Silent_p.I159I	NM_052935	NP_443167	C9JKC4	C9JKC4_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic III-like (NT5C3L), transcript variant 1, mRNA.	167						cytoplasm	5'-nucleotidase activity|magnesium ion binding			kidney(1)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	11		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.15)		TCATCTGTCGGATAATTTCTT	0.438000														59			34		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54395847	54395847	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54395847G>A	uc002qcq.1	+	6	1053	c.771G>A	c.(769-771)ggG>ggA	p.G257G	PRKCG_uc010eqz.1_Silent_p.G257G|PRKCG_uc010yef.1_Silent_p.G257G|PRKCG_uc010yeg.1_Silent_p.G257G|PRKCG_uc010yeh.1_Silent_p.G144G|Mir_324_uc021vbc.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	257	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACTTCATGGGGGCCATGTCCT	0.657000														23			6		0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131339657	131339657	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131339657C>T	uc004bvl.4	+	7	1099	c.957C>T	c.(955-957)gaC>gaT	p.D319D	SPTAN1_uc011mbg.2_Silent_p.D319D|SPTAN1_uc011mbh.2_Silent_p.D331D|SPTAN1_uc004bvm.4_Silent_p.D319D|SPTAN1_uc004bvn.4_Silent_p.D319D	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	319					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CTGAGGCTGACCGCCTGCAAC	0.498000														67			33		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102496012	102496012	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102496012G>A	uc001phc.3	-	0	52	c.39C>T	c.(37-39)ctC>ctT	p.L13L		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	13					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		AAGCCATGATGAGGAAGACAG	0.542000														63			9		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175678	207175678	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:207175678G>A	uc002vbp.2	+	4	6676	c.6426G>A	c.(6424-6426)aaG>aaA	p.K2142K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2142							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGCTTCCAAAGAAAAGAAATT	0.358000														71			20		0	0	1	0	0
AGBL4	84871	broad.mit.edu	37	1	49119122	49119122	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:49119122C>T	uc010omx.1	-	8	919	c.761_splice	c.e8-1	p.G254_splice	AGBL4_uc001cru.2_Splice_Site_p.G242_splice|AGBL4_uc010omw.1_Splice_Site|AGBL4_uc010omy.1_Splice_Site_p.G65_splice|AGBL4_uc001crv.1_Splice_Site_p.G95_splice	NM_032785	NP_116174	Q5VU57	CBPC6_HUMAN	Homo sapiens ATP/GTP binding protein-like 4 (AGBL4), mRNA.	242					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		AGTCAATGATCCCTAGGGAAA	0.453000														6			3		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186266028	186266028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:186266028C>T	uc001gru.4	+	1	72	c.21C>T	c.(19-21)ccC>ccT	p.P7P	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.P7P|PRG4_uc009wyl.3_Silent_p.P7P|PRG4_uc009wym.3_Silent_p.P7P|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	7					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AAACACTTCCCATTTACCTGT	0.373000														44			21		0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36054167	36054167	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36054167C>T	uc002oal.1	-	2	189	c.160G>A	c.(160-162)Gac>Aac	p.D54N		NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	54					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	AGCTGGTGGTCGTTCTGTGTG	0.652000														188			69		0	0	1	0	0
CLDN14	23562	broad.mit.edu	37	21	37833960	37833960	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:37833960G>A	uc021wja.1	-	0	34	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	CLDN14_uc002yvn.1_Silent_p.L12L|CLDN14_uc002yvo.1_Silent_p.L12L|CLDN14_uc002yvk.1_Silent_p.L12L|CLDN14_uc002yvl.1_Silent_p.L12L|CLDN14_uc002yvm.1_Silent_p.L12L	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	12					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						AAGCTGAGCAGGAAGCCCAGA	0.697000														12			3		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52586576	52586576	+	Missense_Mutation	SNP	G	A	A	rs144206846	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:52586576G>A	uc002lfs.3	-	8	887	c.715C>T	c.(715-717)Ctc>Ttc	p.L239F	CCDC68_uc002lft.3_Missense_Mutation_p.L239F	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	239										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TGCTCCTGGAGAATGGAAATC	0.453000														73			26		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36596150	36596150	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:36596150C>T	uc021qgb.1	+	0	1296	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.S432S	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	432					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ATGTGAAGTCCGTGTGCATGA	0.567000									Familial Hemophagocytic Lymphohistiocytosis					45			20		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113075226	113075226	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113075226C>T	uc021qqp.1	+	3	712	c.340_splice	c.e3+1	p.Q114_splice	NCAM1_uc001pno.3_Splice_Site|NCAM1_uc001pnp.3_Splice_Site_p.Q114_splice|NCAM1_uc021qqo.1_Splice_Site_p.Q114_splice|NCAM1_uc001pnq.3_Splice_Site_p.Q114_splice|NCAM1_uc001pnr.3_Splice_Site_p.Q114_splice	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	116					axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane		p.Q106*(1)|p.Q115*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GAAGATCTTTCGTAAGAGCCT	0.517000														25			8		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141525	133141525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133141525G>A	uc003ytj.3	-	14	2828	c.2603C>T	c.(2602-2604)tCc>tTc	p.S868F	KCNQ3_uc003yti.3_Missense_Mutation_p.S748F|KCNQ3_uc010mdt.3_Missense_Mutation_p.S856F	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	868					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGGCTTATTGGAAGGGGTCCA	0.532000														67			6		0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50332845	50332845	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:50332845G>A	uc002egd.1	+	6	1247	c.979G>A	c.(979-981)Ggc>Agc	p.G327S	ADCY7_uc002egb.1_Missense_Mutation_p.G327S|ADCY7_uc002egc.2_Missense_Mutation_p.G327S	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	327	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CAAGATCCTCGGCGACTGCTA	0.627000														79			21		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50683792	50683792	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:50683792G>A	uc002lfe.2	+	7	1944	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	DCC_uc010xdr.1_Missense_Mutation_p.R291Q|DCC_uc010dpf.2_Missense_Mutation_p.R98Q	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	443	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R443Q(4)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTTTCCAGCCGATTTGTCCGT	0.527000														170			44		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413644	61413644	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61413644G>A	uc010qig.1	-	4	1589	c.1140C>T	c.(1138-1140)atC>atT	p.I380I		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	380					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GGCCCATGATGATTAAGGTAG	0.418000														82			42		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71839802	71839802	+	Missense_Mutation	SNP	C	T	T	rs138268837		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71839802C>T	uc010fen.3	+	38	4394	c.4253C>T	c.(4252-4254)cCc>cTc	p.P1418L	DYSF_uc010fei.3_Missense_Mutation_p.P1417L|DYSF_uc010feh.3_Missense_Mutation_p.P1386L|DYSF_uc002sig.4_Missense_Mutation_p.P1386L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P1431L|DYSF_uc010fee.3_Missense_Mutation_p.P1400L|DYSF_uc010fef.3_Missense_Mutation_p.P1417L|DYSF_uc002sie.3_Missense_Mutation_p.P1400L|DYSF_uc010feo.3_Missense_Mutation_p.P1432L|DYSF_uc010fej.3_Missense_Mutation_p.P1387L|DYSF_uc010fel.3_Missense_Mutation_p.P1387L|DYSF_uc010fem.3_Missense_Mutation_p.P1401L|DYSF_uc002sif.3_Missense_Mutation_p.P1401L|DYSF_uc010fek.3_Missense_Mutation_p.P1418L|DYSF_uc010yqy.2_Missense_Mutation_p.P281L|DYSF_uc010yqz.2_Missense_Mutation_p.P140L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1400						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TACTGCCCCCCCATCACCGTC	0.622000														81			26		0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294075	124294075	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124294075C>T	uc010sak.2	-	0	693	c.693G>A	c.(691-693)gaG>gaA	p.E231E		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		TGGATCTGCCCTCTGCAGAAG	0.438000														55			6		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278576	36278576	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36278576C>T	uc002obs.2	+	20	2770	c.2626C>T	c.(2626-2628)Ccc>Tcc	p.P876S	ARHGAP33_uc002obt.2_Missense_Mutation_p.P873S|ARHGAP33_uc002obv.1_Missense_Mutation_p.P625S	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1013	Poly-Pro.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTCCCCAGCCCCCAGGGAGTG	0.697000														89			49		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86029	86029	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000211.1:86029G>A	uc003bnz.1	+	6		c.777_splice	c.e6-1		FLJ43315_uc003boa.3_Splice_Site					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CTCTCCATAGGGAGTTTATAG	0.398000														6			5		0	0	1	0	0
BC019672	0	broad.mit.edu	37	17	20320092	20320092	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:20320092C>T	uc002gwx.3	+	0		c.671C>T								Homo sapiens, clone IMAGE:4938453, mRNA.																		GGGGCTGACCCAGAGGAAGTC	0.567000														17			8		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45798380	45798380	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:45798380G>A	uc003bgc.3	-	4	739	c.687C>T	c.(685-687)taC>taT	p.Y229Y	SMC1B_uc003bgd.3_Silent_p.Y229Y|SMC1B_uc003bge.1_Silent_p.Y12Y	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	229					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTCATTATGGTATAGTTGAA	0.358000														111			49		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18865911	18865911	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:18865911C>T	uc021qvx.1	-	5	770	c.579G>A	c.(577-579)gtG>gtA	p.V193V	PLCZ1_uc001rdv.4_Silent_p.V89V|PLCZ1_uc001rdw.4_Intron|PLCZ1_uc001rdu.1_5'UTR|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	193	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GGCATCCTTTCACAAGGGCAC	0.348000														55			22		0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127646621	127646621	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:127646621G>A	uc010hsr.3	+	1	1088	c.1085G>A	c.(1084-1086)gGa>gAa	p.G362E	KBTBD12_uc003ejy.4_5'UTR|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Missense_Mutation_p.E4K|KBTBD12_uc003ejz.2_Missense_Mutation_p.G362E	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	362										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CATGATAGAGGAAACCAGTTT	0.368000														179			65		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926341	1926341	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1926341C>T	uc002qxe.3	-	9	2027	c.1200G>A	c.(1198-1200)gcG>gcA	p.A400A	MYT1L_uc002qxd.3_Silent_p.A400A|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	400					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CATCCTCCTTCGCACAGCTGG	0.597000														25			17		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41550893	41550893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41550893C>T	uc002yyq.1	-	14	3360	c.2908G>A	c.(2908-2910)Gag>Aag	p.E970K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	970	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGCTGGGCTCGCTCTTGCCA	0.602000														47			16		0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156785878	156785878	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156785878C>T	uc009wsh.2	-	1	183	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	SH2D2A_uc001fqc.1_5'UTR|SH2D2A_uc001fqd.2_Missense_Mutation_p.E15K|SH2D2A_uc001fqe.2_Intron|SH2D2A_uc010phs.1_Missense_Mutation_p.E15K|NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.	15					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.H14H(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATGGGGGCTTCGTGACTCCCT	0.612000														29			4		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101918575	101918575	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:101918575C>T	uc003uyt.3	+	16	1635	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	CUX1_uc003uyw.3_Missense_Mutation_p.S457F|CUX1_uc003uyv.3_Missense_Mutation_p.S487F|CUX1_uc003uyu.3_Missense_Mutation_p.S501F|CUX1_uc011kkn.2_Missense_Mutation_p.S464F	NM_001913	NP_001904	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 2, mRNA.	315					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCACTGCTTTCCATCATCTCC	0.642000														72			30		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29142318	29142318	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29142318G>A	uc011dlm.2	+	0	1008	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	302					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						AAGGGGCAGCGAAGAGACTAT	0.453000														71			18		0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71125403	71125403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:71125403G>A	uc002ass.3	-	2	535	c.464C>T	c.(463-465)tCa>tTa	p.S155L		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	155	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AAGGACCACTGAATACTTCAA	0.502000														80			24		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130511741	130511741	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130511741G>A	uc004bsc.3	-	4	1030	c.888C>T	c.(886-888)ctC>ctT	p.L296L	SH2D3C_uc010mxo.3_Silent_p.L136L|SH2D3C_uc004bry.3_Silent_p.L138L|SH2D3C_uc004brz.4_5'UTR|SH2D3C_uc011mak.2_5'UTR|SH2D3C_uc004bsb.3_Silent_p.L228L|SH2D3C_uc004bsa.3_Silent_p.L139L	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	296	SH2.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GATAGCGCACGAGGGCGGGCA	0.587000														59			7		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	174951855	174951855	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:174951855C>T	uc003fit.3	+	2	767	c.680C>T	c.(679-681)tCt>tTt	p.S227F	NAALADL2_uc003fiu.1_Missense_Mutation_p.S220F|NAALADL2_uc010hwy.1_Missense_Mutation_p.S49F	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	227					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCAGGCCCTTCTCCCAGCACT	0.473000														69			40		0	0	1	0	0
MSL3P1	151507	broad.mit.edu	37	2	234775285	234775285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234775285G>A	uc010znf.2	-	1	795	c.557C>T	c.(556-558)tCg>tTg	p.S186L						Homo sapiens male-specific lethal 3 homolog (Drosophila) pseudogene 1 (MSL3P1), non-coding RNA.																		GGTGTGGGGCGAGGACCGCCT	0.617000														52			9		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80044225	80044225	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:80044225G>A	uc002kdu.3	-	21	3754	c.3637C>T	c.(3637-3639)Cct>Tct	p.P1213S	FASN_uc002kdw.1_Missense_Mutation_p.P429S	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1213					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	p.P1213L(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CTGAGCAGAGGGTCCTCTGGC	0.667000														19			7		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430806	37430806	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:37430806G>A	uc021ppc.1	+	6	912	c.813G>A	c.(811-813)gaG>gaA	p.E271E	ANKRD30A_uc001iza.1_Silent_p.E271E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	327						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.D270E(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CACCTGATGAGGCTGCATCCT	0.473000														55			17		0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64892501	64892501	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:64892501G>A	uc001xhb.3	+	9	1296	c.909G>A	c.(907-909)tgG>tgA	p.W303*	MTHFD1_uc010aqe.2_Nonsense_Mutation_p.W339*|MTHFD1_uc010aqf.3_Nonsense_Mutation_p.W359*	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	303	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	p.W303*(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CAGGAAAGTGGATGATTCAGT	0.338000														80			37		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36215909	36215909	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36215909C>T	uc021usv.1	+	9	3449	c.3449C>T	c.(3448-3450)cCc>cTc	p.P1150L	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	912	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCCCCTGGCCCCTTTGCTTCT	0.592000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				41			29		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077159	9077159	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9077159C>T	uc002mkp.3	-	2	10491	c.10287G>A	c.(10285-10287)tgG>tgA	p.W3429*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3430	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S3428Y(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						TCTGATCTGACCAAGAACTAG	0.458000														103			52		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924639	188924639	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:188924639C>T	uc003izh.1	+	3	1086	c.678C>T	c.(676-678)ttC>ttT	p.F226F	ZFP42_uc003izi.1_Silent_p.F226F|ZFP42_uc021xvm.1_Silent_p.F226F	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	226					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGAAAGCGTTCGTTGAGAGCT	0.507000														76			30		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220496784	220496784	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220496784C>T	uc002vmo.4	+	6	1196	c.987C>T	c.(985-987)gcC>gcT	p.A329A	SLC4A3_uc002vmn.2_Silent_p.A329A|SLC4A3_uc002vmp.4_Silent_p.A302A|SLC4A3_uc010fwm.3_5'UTR|SLC4A3_uc010fwn.1_5'UTR	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	302					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGGCCTGGCCCCCATCCTTC	0.637000														52			18		0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	628806	628806	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:628806C>T	uc002cho.3	+	5	1229	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L	PIGQ_uc010bqw.3_Missense_Mutation_p.P364L|PIGQ_uc002chn.3_Missense_Mutation_p.P364L|PIGQ_uc010uui.2_Missense_Mutation_p.P378L|PIGQ_uc002chp.3_5'Flank	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	364	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTCATGTCCCCCTTCGTGGAG	0.657000														66			44		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44083474	44083474	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44083474C>T	uc001cjr.3	+	24	4603	c.4263C>T	c.(4261-4263)atC>atT	p.I1421I	PTPRF_uc001cjs.3_Silent_p.I1412I|PTPRF_uc001cju.3_Silent_p.I810I|PTPRF_uc009vwt.3_Silent_p.I981I|PTPRF_uc001cjv.3_Silent_p.I892I|PTPRF_uc001cjw.3_Silent_p.I647I	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1421	Tyrosine-protein phosphatase 1.			I -> T (in Ref. 5; AAH48768).	transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGCCTACATCGCCACGCAGG	0.582000														51			15		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958867	50958867	+	Silent	SNP	C	T	T	rs145465195	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50958867C>T	uc002psf.2	+	19	2355	c.2304C>T	c.(2302-2304)atC>atT	p.I768I		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	768	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.I768I(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CAGGTGGCATCGATGGGTACC	0.622000														88			12		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96466679	96466679	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96466679C>T	uc001kjv.4	+	4	1107	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	CYP2C19_uc001kjw.4_Intron|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	261					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAACAGTGCTCGGGACTTTAT	0.328000														69			31		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155774885	155774885	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155774885G>A	uc001flz.2	-	10	1597	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	GON4L_uc001fly.1_Silent_p.P500P|GON4L_uc009wrh.1_Silent_p.P500P|GON4L_uc001fma.1_Silent_p.P500P|GON4L_uc001fmc.3_Silent_p.P500P|GON4L_uc001fmd.4_Silent_p.P500P|GON4L_uc009wri.3_Silent_p.P86P|GON4L_uc009wrj.2_Silent_p.P15P|GON4L_uc001fme.3_Silent_p.P328P|GON4L_uc001fmf.3_Silent_p.P194P	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	500					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CATCTTTCAGGGGCATCTTAG	0.483000														94			31		0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125805533	125805533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:125805533C>T	uc001lhn.3	-	1	930	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	CHST15_uc001lhm.3_Missense_Mutation_p.E66K|CHST15_uc010que.2_Missense_Mutation_p.E66K|CHST15_uc001lho.3_Missense_Mutation_p.E66K	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	66					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CCCCAGTTTTCGTTCCCTTCA	0.463000														81			9		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153085278	153085278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:153085278C>T	uc011dcy.2	+	10	1531	c.1504C>T	c.(1504-1506)Ccc>Tcc	p.P502S	GRIA1_uc003lva.4_Missense_Mutation_p.P492S|GRIA1_uc003luy.4_Missense_Mutation_p.P492S|GRIA1_uc003luz.4_Missense_Mutation_p.P397S|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.P412S|GRIA1_uc011dcx.2_Missense_Mutation_p.P423S|GRIA1_uc011dcz.2_Missense_Mutation_p.P502S|GRIA1_uc010jia.1_Missense_Mutation_p.P472S	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	492					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCTGTGGCTCCCTTAACTAT	0.358000														35			11		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131921984	131921984	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:131921984G>A	uc003ytd.4	-	5	1866	c.1610C>T	c.(1609-1611)gCa>gTa	p.A537V	ADCY8_uc010mds.3_Missense_Mutation_p.A537V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	537					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.A537T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAGTTTGTTTGCAATATCCAC	0.468000										HNSCC(32;0.087)				157			85		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14548453	14548453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:14548453C>T	uc021wtn.1	-	20	2542	c.2542G>A	c.(2542-2544)Gag>Aag	p.E848K	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	752					synaptic transmission	cytosol|plasma membrane	protein binding	p.E848E(1)		endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TCACTGGTCTCACTGAGGCTG	0.607000														14			4		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182359477	182359477	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:182359477C>T	uc002unu.3	+	11	2040	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L		NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	426					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATCAGCAAATCGTTAAGTATG	0.308000														93			41		0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56271348	56271348	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56271348C>T	uc002ivq.3	+	4	608	c.489C>T	c.(487-489)tcC>tcT	p.S163S		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	163				S -> C (in Ref. 3; AA sequence).	hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TAGGGGCCTCCAACCAGGCTC	0.667000														41			16		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57476416	57476416	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57476416G>A	uc009vzx.1	-	13	1940	c.1620C>T	c.(1618-1620)ccC>ccT	p.P540P	DAB1_uc001cyt.1_Silent_p.P538P|DAB1_uc001cyq.1_Silent_p.P538P|DAB1_uc001cyr.1_Silent_p.P454P|DAB1_uc009vzw.1_Silent_p.P522P|DAB1_uc001cys.1_Silent_p.P540P	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	573					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCTCCCCACTGGGCTCACCAA	0.443000														98			38		0	0	1	0	0
NACAP1	83955	broad.mit.edu	37	8	102381246	102381246	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:102381246G>A	uc003ykc.1	+	0	126	c.109G>A	c.(109-111)Gag>Aag	p.E37K	NACAP1_uc010mbs.1_Non-coding_Transcript					Homo sapiens nascent-polypeptide-associated complex alpha polypeptide pseudogene 1 (NACAP1), non-coding RNA.																		GTCAGTACCAGAGCTTGAAGA	0.517000														88			7		0	0	1	0	0
NARFL	64428	broad.mit.edu	37	16	782336	782337	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:782336_782337GG>AA	uc002cjr.3	-	7	872_873	c.860_861CC>TT	c.(859-861)tcc>tTT	p.S287F	NARFL_uc002cjp.3_Missense_Mutation_p.S185F|NARFL_uc002cjq.3_Missense_Mutation_p.S185F|NARFL_uc021tab.1_Non-coding_Transcript|NARFL_uc010uuq.1_Missense_Mutation_p.P96F	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	Homo sapiens nuclear prelamin A recognition factor-like (NARFL), mRNA.	287					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GGTCGGGGAGGGAGACGCCCTC	0.530000														161			66		0	0	1	0	0
AK309922	0	broad.mit.edu	37	10	49313271	49313271	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:49313271C>T	uc009xny.1	-	2		c.445G>A								Homo sapiens cDNA, FLJ99963.																		CCTGTCTCTTCCGAAGGGGCC	0.463000														73			46		0	0	1	0	0
MRPL1	65008	broad.mit.edu	37	4	78804493	78804493	+	Missense_Mutation	SNP	G	A	A	rs116727867	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:78804493G>A	uc003hku.2	+	2	439	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA.	81							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TATGGAAGGCGAACCTGAGGA	0.333000														72			27		0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48414334	48414334	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48414334C>T	uc003csr.3	+	1	263	c.77C>T	c.(76-78)tCc>tTc	p.S26F	FBXW12_uc010hjv.3_Intron|FBXW12_uc003css.3_Missense_Mutation_p.S26F|FBXW12_uc010hjw.3_Intron	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	26	F-box.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGCAGGTTTCCCAGGTGAAC	0.542000														101			18		0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100530112	100530112	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:100530112C>T	uc011cej.2	+	11	1841	c.1828C>T	c.(1828-1830)Cta>Tta	p.L610L	MTTP_uc003hvc.4_Silent_p.L583L	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	583	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TCAAGACATCCTACGTTTTGA	0.403000														110			30		0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6261655	6261655	+	Splice_Site	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:6261655A>G	uc001ije.3	+	7	1007	c.623_splice	c.e7+1	p.R208_splice	PFKFB3_uc001ijd.3_Splice_Site_p.R188_splice|PFKFB3_uc009xii.3_Splice_Site|PFKFB3_uc010qaw.2_Splice_Site_p.R222_splice|PFKFB3_uc001ijf.3_Splice_Site_p.R208_splice	NM_004566	NP_004557	Q16875	F263_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.	208	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CAAATGCGACAGGTGATTCCC	0.502000														66			16		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325254	158325254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158325254C>T	uc001fse.3	+	2	813	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	CD1E_uc010pid.2_Missense_Mutation_p.R172C|CD1E_uc010pie.2_Missense_Mutation_p.R75C|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.R174C|CD1E_uc001fsf.3_Missense_Mutation_p.R174C|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Missense_Mutation_p.R75C|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.R174C|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	174					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen		p.R174L(2)		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)					AGTGCTCAATCGCTACCTAGA	0.507000														67			31		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26241088	26241088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:26241088C>T	uc001isn.2	+	2	409	c.49C>T	c.(49-51)Cct>Tct	p.P17S	MYO3A_uc009xko.1_Missense_Mutation_p.P17S|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.P17S|MYO3A_uc001ism.2_Missense_Mutation_p.P17S	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	17					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTTTCCTGATCCTTCTGATAC	0.333000														75			26		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22149821	22149821	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:22149821G>A	uc010vbq.2	+	21	2376	c.2280G>A	c.(2278-2280)ctG>ctA	p.L760L	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Silent_p.L768L	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	760						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCGTCCCCCTGGGGGCCAGAA	0.527000														34			4		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576177	33576177	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:33576177G>A	uc003jia.1	-	18	4117	c.3954C>T	c.(3952-3954)atC>atT	p.I1318I	ADAMTS12_uc010iuq.1_Silent_p.I1233I	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1318	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGTTTCCGACGATCCAGTGTG	0.453000										HNSCC(64;0.19)				90			40		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103648	168103648	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:168103648G>A	uc002udx.3	+	8	5835	c.5746G>A	c.(5746-5748)Gag>Aag	p.E1916K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E1741K|XIRP2_uc010fpq.3_Missense_Mutation_p.E1694K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1741					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTGAAAAAGGAGCTTCTCAA	0.353000														51			16		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121410779	121410779	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121410779G>A	uc010hrc.3	-	13	7558	c.7432C>T	c.(7432-7434)Cga>Tga	p.R2478*	GOLGB1_uc003eei.4_Nonsense_Mutation_p.R2473*|GOLGB1_uc003eej.4_Nonsense_Mutation_p.R2439*|GOLGB1_uc021xcy.1_Nonsense_Mutation_p.R2398*	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2473					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATGCGGTCTCGATCATTTTGG	0.413000														204			23		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286690	152286690	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152286690A>G	uc001ezu.1	-	2	708	c.672T>C	c.(670-672)acT>acC	p.T224T	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	224					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATTTTTGAGTCATTCTTC	0.348000									Ichthyosis					92			26		0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90010762	90010762	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:90010762G>A	uc001tbh.3	-	10	2065	c.1884C>T	c.(1882-1884)gaC>gaT	p.D628D	ATP2B1_uc001tbg.3_Silent_p.D628D|ATP2B1_uc001tbf.3_Silent_p.D298D	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	628					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TATCATCACGGTCCCTTGGTC	0.368000														106			17		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123451818	123451818	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:123451818C>T	uc003ego.3	-	10	1723	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N	MYLK_uc011bjw.2_Missense_Mutation_p.D481N|MYLK_uc003egp.3_Intron|MYLK_uc003egq.3_Missense_Mutation_p.D481N|MYLK_uc003egr.3_Intron|MYLK_uc003egs.3_Missense_Mutation_p.D305N	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	481	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTCCCACTGTCCCTGGTCCGG	0.577000														54			13		0	0	1	0	0
USP50	373509	broad.mit.edu	37	15	50833302	50833302	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:50833302C>T	uc021sky.1	-	3	784	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	USP50_uc021skx.1_Missense_Mutation_p.E104K	NM_203494	NP_987090	E9PP86	E9PP86_HUMAN	Homo sapiens ubiquitin specific peptidase 50 (USP50), mRNA.	202					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		GTGAAGACTTCGTTCTTGTAG	0.443000														36			15		0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28414151	28414151	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:28414151C>T	uc002het.3	+	18	3842	c.3650C>T	c.(3649-3651)cCt>cTt	p.P1217L	EFCAB5_uc010cse.3_Missense_Mutation_p.P972L|EFCAB5_uc010csf.3_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	1217							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CACAAAAATCCTCCTACCATC	0.418000														32			28		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75927692	75927692	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:75927692C>T	uc003kek.3	+	14	1843	c.1621C>T	c.(1621-1623)Ctg>Ttg	p.L541L	IQGAP2_uc010izv.2_Silent_p.L94L|IQGAP2_uc011csv.2_Silent_p.L94L|IQGAP2_uc003kel.3_Silent_p.L94L	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	541					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGGGGTTACTCTGGTGGTTGA	0.338000														49			10		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140731956	140731956	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140731956G>T	uc003ljo.2	+	0	2129	c.2129G>T	c.(2128-2130)cGc>cTc	p.R710L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljq.2_5'Flank|PCDHGC5_uc011daq.2_Missense_Mutation_p.R710L|PCDHGC5_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	716					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)			ATCGCCCTGCGCCTGCGACGT	0.612000														185			38		2.35968e-33	2.37483e-33	1	1	0
PRB4	5545	broad.mit.edu	37	12	11461789	11461789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:11461789C>T	uc001qzf.1	-	2	162	c.128G>A	c.(127-129)gGa>gAa	p.G43E	PRB4_uc001qzt.3_Missense_Mutation_p.G43E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	43	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTGGTTTCCTCCTTGTGGGCG	0.562000										HNSCC(22;0.051)				248			98		0	0	1	0	0
SAPCD2	89958	broad.mit.edu	37	9	139960772	139960772	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139960772G>A	uc011men.2	-	1	742	c.626C>T	c.(625-627)cCc>cTc	p.P209L		NM_178448	NP_848543	Q86UD0	CI140_HUMAN	Homo sapiens chromosome 9 open reading frame 140 (C9orf140), mRNA.	209						cytoplasm|nucleus											TCGGGCACGGGGAGCCCGCCG	0.701000														19			4		0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89259965	89259965	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89259965G>A	uc002fmt.3	+	11	2020	c.1943G>A	c.(1942-1944)cGa>cAa	p.R648Q		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	648					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GACGACCTTCGAGACAATGTC	0.672000														15			12		0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93624558	93624558	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:93624558C>T	uc004aqz.3	+	3	854	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	SYK_uc004ara.3_Missense_Mutation_p.R217C|SYK_uc004arb.3_Missense_Mutation_p.R217C|SYK_uc004arc.3_Missense_Mutation_p.R217C|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	217	SH2 2.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GCTGCACTATCGCATCGACAA	0.577000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									28			6		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220161176	220161176	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220161176G>A	uc002vkz.3	-	16	2614	c.2373C>T	c.(2371-2373)atC>atT	p.I791I	PTPRN_uc010zlc.2_Silent_p.I701I|PTPRN_uc002vla.3_Silent_p.I762I|MIR153-1_uc010zld.1_5'Flank	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	791	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGAAGTCTGCGATGGTATGGG	0.602000														78			31		0	0	1	0	0
DEFB110	245913	broad.mit.edu	37	6	49989596	49989596	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:49989596G>A	uc003pac.3	-	0	99	c.53C>T	c.(52-54)cCa>cTa	p.P18L	DEFB110_uc011dwr.2_Missense_Mutation_p.P18L	NM_001037497	NP_001032586	Q30KQ9	DB110_HUMAN	Homo sapiens defensin, beta 110 locus (DEFB110), transcript variant 1, mRNA.	18					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					CATATTACCTGGTAAAATTGT	0.303000														50			14		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285897	223285897	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:223285897G>A	uc021pjl.1	-	0	477	c.477C>T	c.(475-477)agC>agT	p.S159S	TLR5_uc001hnv.2_Silent_p.S159S|TLR5_uc001hnw.2_Silent_p.S159S	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	159					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GAAGGTAAAGGCTACGAATCT	0.378000														103			25		0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46607818	46607818	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:46607818C>T	uc002ruv.3	+	11	2517	c.2007C>T	c.(2005-2007)ccC>ccT	p.P669P	EPAS1_uc002ruw.3_Silent_p.P135P	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	669					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CGTTGGGGCCCCCTGTCTCTC	0.587000														118			45		0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100222168	100222168	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:100222168G>A	uc003knk.3	-	2	710	c.382C>T	c.(382-384)Cta>Tta	p.L128L	ST8SIA4_uc003knl.3_Silent_p.L128L	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	128					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ACTTCAGGTAGGAGGCTATGT	0.438000														129			42		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197019875	197019875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197019875C>T	uc001gtt.1	-	9	1734	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	564	Sushi 9.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CAATAGGCCTCCCTAGATCCT	0.338000														54			15		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66434820	66434820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:66434820G>A	uc002eom.4	+	10	1894	c.1738G>A	c.(1738-1740)Gag>Aag	p.E580K		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	580	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CAAGTGCAACGAGCAGGGCGA	0.602000														69			17		0	0	1	0	0
PAQR7	164091	broad.mit.edu	37	1	26189653	26189653	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26189653G>A	uc021ojm.1	-	0	678	c.678C>T	c.(676-678)ttC>ttT	p.F226F	PAQR7_uc001bkx.3_Silent_p.F226F	NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	Homo sapiens progestin and adipoQ receptor family member VII (PAQR7), mRNA.	226					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CGGAGGACACGAAGATACGAT	0.577000														63			29		0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74883703	74883703	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74883703C>T	uc002aye.3	+	5	1294	c.1093C>T	c.(1093-1095)Ctt>Ttt	p.L365F	ARID3B_uc002ayd.3_Missense_Mutation_p.L365F|ARID3B_uc010bjs.1_Missense_Mutation_p.L70F	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	365	Interaction with RB1.				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						CTTTCCCATCCTTGGGCTTGG	0.622000														171			31		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39008179	39008179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39008179C>T	uc002oit.3	+	65	9996	c.9866C>T	c.(9865-9867)cCc>cTc	p.P3289L	RYR1_uc002oiu.3_Missense_Mutation_p.P3289L|RYR1_uc002oiv.1_Missense_Mutation_p.P209L|RYR1_uc010xuf.1_Missense_Mutation_p.P209L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3289					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGCGCGGGCCCGAGGCACCC	0.667000														31			20		0	0	1	0	0
RAB25	57111	broad.mit.edu	37	1	156038175	156038175	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156038175C>T	uc001fnc.3	+	2	580	c.354C>T	c.(352-354)atC>atT	p.I118I		NM_020387	NP_065120	P57735	RAB25_HUMAN	Homo sapiens RAB25, member RAS oncogene family (RAB25), mRNA.	118					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					AAGCCACGATCGTCGTCATGC	0.592000														91			22		0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6748162	6748162	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6748162G>A	uc001qpu.1	-	8	1515	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	LPAR5_uc001qps.2_5'Flank|LPAR5_uc010sff.1_5'UTR|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Silent_p.S456S	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	489						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GGCTTTTGAAGGAACAGTAGT	0.532000														97			9		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46825915	46825915	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46825915C>T	uc003oyo.3	-	16	4014	c.3725G>A	c.(3724-3726)gGg>gAg	p.G1242E	GPR116_uc011dwj.1_Missense_Mutation_p.G797E|GPR116_uc011dwk.1_Missense_Mutation_p.G671E|GPR116_uc003oyp.3_Missense_Mutation_p.G1100E|GPR116_uc003oyq.3_Missense_Mutation_p.G1242E|GPR116_uc010jzi.1_Missense_Mutation_p.G914E	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1242					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAGGTTGGTCCCTGGGAACAC	0.488000														67			27		0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6890533	6890533	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:6890533C>T	uc002knc.3	+	13	4894	c.1683C>T	c.(1681-1683)ctC>ctT	p.L561L	ARHGAP28_uc002kne.3_Silent_p.L454L|ARHGAP28_uc010wzi.2_Silent_p.L436L|ARHGAP28_uc002knf.3_Silent_p.L445L	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	436					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GGAAGACCCTCGAGCGGGAGG	0.473000														26			9		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90744579	90744579	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90744579G>A	uc011lti.2	-	3	3402	c.3373C>T	c.(3373-3375)Ccc>Tcc	p.P1125S	DQ587746_uc004apx.1_5'Flank	NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	1125																	TCTCTGTTGGGACGACTCTGG	0.522000														120			38		0	0	1	0	0
FAM58BP	339521	broad.mit.edu	37	1	200182892	200182892	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:200182892C>T	uc009wzi.1	+	0	237	c.201C>T	c.(199-201)atC>atT	p.I67I		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	67					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						GCGAGACCATCCTGGACGCCT	0.527000														150			32		0	0	1	0	0
EFHD1	80303	broad.mit.edu	37	2	233546349	233546349	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233546349G>A	uc002vtc.3	+	3	848	c.640G>A	c.(640-642)Gat>Aat	p.D214N	EFHD1_uc010fyf.3_Missense_Mutation_p.D118N|EFHD1_uc002vtd.3_Missense_Mutation_p.D102N	NM_025202	NP_079478	Q9BUP0	EFHD1_HUMAN	Homo sapiens EF-hand domain family, member D1 (EFHD1), transcript variant 1, mRNA.	214							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGCTGAGCAAGATGAGCGGAA	0.542000														101			58		0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173873345	173873345	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:173873345C>T	uc003isv.3	+	9	2043	c.1307C>T	c.(1306-1308)gCt>gTt	p.A436V		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	436						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TTCATGGCTGCTGTGGCCTGG	0.612000														36			13		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106163486	106163486	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106163486G>A	uc001kyh.3	+	14	2174	c.2040_splice	c.e14-1	p.R680_splice		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	680										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GTCTTATTCAGACAGGAGTTT	0.403000														23			4		0	0	1	0	0
PDZD3	79849	broad.mit.edu	37	11	119058284	119058284	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:119058284C>T	uc001pwb.3	+	3	1254	c.730C>T	c.(730-732)Cct>Tct	p.P244S	PDZD3_uc001pvz.3_Missense_Mutation_p.P178S|PDZD3_uc010rzd.2_Missense_Mutation_p.P165S|PDZD3_uc001pvy.3_Missense_Mutation_p.P178S|PDZD3_uc001pwa.3_5'UTR			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	244	PDZ 2.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CAATCAGGGTCCTTTCTGGTT	0.582000														8			3		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37036109	37036109	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:37036109C>T	uc002rpl.3	+	14	2186	c.1884C>T	c.(1882-1884)gcC>gcT	p.A628A	VIT_uc002rpm.3_Silent_p.A613A|VIT_uc010ezv.3_Silent_p.A591A|VIT_uc010ezw.3_Silent_p.A592A	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	613	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GGATCCCAGCCATGGCTGCCC	0.582000														37			14		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55874926	55874926	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55874926G>A	uc003tqz.2	-	7	960	c.843C>T	c.(841-843)ttC>ttT	p.F281F		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	281					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGAGCTTAACGAAGTCACAGT	0.328000														56			26		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10084865	10084865	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10084865G>A	uc002mmq.1	-	46	3572	c.3486C>T	c.(3484-3486)gtC>gtT	p.V1162V		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1162	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)			CGACGTCTCCGACCTCCCCTT	0.592000														52			26		0	0	1	0	0
LOC442459	442459	broad.mit.edu	37	X	98975767	98975767	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:98975767C>T	uc011mrd.1	-	6		c.832G>A								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		GTAGTCAGATCCATGGCCCAT	0.428000														6			4		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126241172	126241172	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126241172T>G	uc003ifj.4	+	0	3606	c.3606T>G	c.(3604-3606)gaT>gaG	p.D1202E		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1202	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACATGAAGGATATAAATGATA	0.418000														64			22		0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37871608	37871608	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:37871608C>T	uc002hso.3	+	9	1456	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	ERBB2_uc010cwa.3_Silent_p.I391I|ERBB2_uc002hsm.3_Silent_p.I376I|ERBB2_uc002hsp.3_Silent_p.I209I|ERBB2_uc010cwb.3_Silent_p.I406I|ERBB2_uc010wek.2_Silent_p.I130I|ERBB2_uc002hsl.3_Silent_p.I376I	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	406					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGGAAGAGATCACAGGTGGGC	0.592000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				24			14		0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208842195	208842195	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:208842195G>T	uc002vcl.2	-	2	1216	c.726C>A	c.(724-726)ttC>ttA	p.F242L	PLEKHM3_uc002vcm.2_Missense_Mutation_p.F242L	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	242	PH 1.				intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGAGGCTGTAGAAGTATAAGT	0.448000														135			41		2.37825e-27	2.39292e-27	1	1	0
SPTBN4	57731	broad.mit.edu	37	19	41021242	41021242	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41021242G>A	uc002ony.3	+	14	2876	c.2790G>A	c.(2788-2790)atG>atA	p.M930I	SPTBN4_uc002onx.3_Missense_Mutation_p.M930I|SPTBN4_uc002onz.3_Missense_Mutation_p.M930I|SPTBN4_uc010egx.3_5'UTR	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	930					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACCAAGAGATGAACAGCCTGA	0.562000														15			7		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171323129	171323129	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:171323129G>A	uc002ufy.3	+	24	3065	c.2922G>A	c.(2920-2922)ctG>ctA	p.L974L	MYO3B_uc002ufv.3_Silent_p.L961L|MYO3B_uc010fqb.1_Silent_p.L974L|MYO3B_uc002ufz.3_Silent_p.L974L|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Intron	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	974	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AGAGGGTGCTGGCCCAGCTCC	0.557000														121			35		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200880878	200880878	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:200880878C>T	uc001gvo.3	+	8	1554	c.1512C>T	c.(1510-1512)gtC>gtT	p.V504V	C1orf106_uc010ppm.2_Silent_p.V419V	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	504										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GAGAGCTGGTCGCCCACCACC	0.701000														45			41		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51192483	51192483	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51192483C>T	uc002psx.1	-	14	2037	c.2018G>A	c.(2017-2019)gGg>gAg	p.G673E	SHANK1_uc002psw.1_Missense_Mutation_p.G57E	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	673	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAACCCAAACCCCTCACTGTC	0.612000														151			18		0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30876227	30876227	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:30876227G>A	uc001rji.1	-	10	2760	c.2009C>T	c.(2008-2010)tCc>tTc	p.S670F	CAPRIN2_uc001rjf.1_Missense_Mutation_p.S467F|CAPRIN2_uc001rjg.1_Missense_Mutation_p.S337F|CAPRIN2_uc001rjh.1_Missense_Mutation_p.S670F|CAPRIN2_uc001rjk.4_Missense_Mutation_p.S670F|CAPRIN2_uc001rjj.1_Missense_Mutation_p.S337F|CAPRIN2_uc001rjl.4_Missense_Mutation_p.S670F|CAPRIN2_uc001rjm.1_Missense_Mutation_p.S337F	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	670					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACTTTGACTGGACAGATTTTG	0.358000														61			17		0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58131029	58131029	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:58131029C>T	uc001spq.3	-	0	1001	c.1001G>A	c.(1000-1002)gGg>gAg	p.G334E	AGAP2_uc001spp.3_Missense_Mutation_p.G334E|AGAP2_uc001spr.3_Intron	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	334	Interaction with PLCG1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TGCTCGGCCCCCCTCCCGGCC	0.677000														18			5		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530017	140530017	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140530017C>T	uc003lir.3	+	0	179	c.179C>T	c.(178-180)tCg>tTg	p.S60L		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	60	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S60S(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCTGGCTTCGCGGGGCGCT	0.507000														109			49		0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127967522	127967522	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:127967522C>T	uc001ljk.2	-	2	635	c.222G>A	c.(220-222)cgG>cgA	p.R74R	ADAM12_uc010qul.1_Silent_p.R74R|ADAM12_uc001ljm.3_Silent_p.R74R|ADAM12_uc001ljn.3_Silent_p.R74R|ADAM12_uc001ljl.4_Silent_p.R74R	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	74					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTTTGCTTTCCCGTTGTAGTC	0.343000														27			5		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69046410	69046410	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:69046410G>A	uc003xxv.1	+	31	3910	c.3883G>A	c.(3883-3885)Gaa>Aaa	p.E1295K		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1295					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAACAGCAAGGAAAATGAGAT	0.498000														63			36		0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30860294	30860294	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30860294C>T	uc003nrv.3	+	6	1116	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	DDR1_uc010jse.3_Silent_p.L358L|DDR1_uc003nrq.3_Silent_p.L358L|DDR1_uc003nrr.3_Silent_p.L358L|DDR1_uc003nrs.3_Silent_p.L358L|DDR1_uc003nrt.3_Silent_p.L358L|DDR1_uc011dms.2_Silent_p.L376L|DDR1_uc003nru.3_Silent_p.L358L|DDR1_uc003nry.2_Silent_p.L358L|DDR1_uc003nrx.2_Silent_p.L358L|DDR1_uc003nrw.1_Silent_p.L157L	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	358					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCTGGTTACTCTTCAGCGAAA	0.587000														121			13		0	0	1	0	0
TOB2P1	222699	broad.mit.edu	37	6	28186322	28186322	+	RNA	SNP	G	A	A	rs148940952	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28186322G>A	uc011dla.1	-	0		c.386C>T								Homo sapiens transducer of ERBB2, 2 pseudogene 1 (TOB2P1), non-coding RNA.											endometrium(1)	1						GTACCAGTGGGCTTCTTATTT	0.537000														18			6		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32657319	32657319	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:32657319C>T	uc001mtv.3	-	13	1152	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	CCDC73_uc001mtw.1_Missense_Mutation_p.E360K	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	370										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ATATGAGTTTCTTTAAGGGAT	0.254000														27			11		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22636798	22636798	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22636798C>T	uc001wdi.2	+	1	283	c.251C>T	c.(250-252)tCa>tTa	p.S84L	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_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|TCRA_uc021rpu.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 30, partial cds, clone: SEB 222.																		ATATCTGCTTCATTTAATGAA	0.468000														47			22		0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100348997	100348997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:100348997G>A	uc003huv.2	-	4	774	c.533C>T	c.(532-534)cCt>cTt	p.P178L	ADH7_uc021xqj.1_Missense_Mutation_p.P186L	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	178					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	GACTTTCTCAGGAGGAGCTGC	0.443000														62			15		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408206	29408206	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29408206G>A	uc011dlp.2	+	0	491	c.414G>A	c.(412-414)cgG>cgA	p.R138R	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	138			R -> W (in dbSNP:rs17177646).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGAGCCACCGGGTGTGTCTAC	0.637000														65			8		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100585734	100585734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:100585734C>T	uc003dun.3	-	9	1083	c.998G>A	c.(997-999)cGa>cAa	p.R333Q	ABI3BP_uc003duo.2_Missense_Mutation_p.R326Q|ABI3BP_uc003dup.4_Missense_Mutation_p.R326Q	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	333						extracellular space		p.R333Q(3)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTTGTGGGTCGTGCTGAGAT	0.358000														40			16		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72111608	72111608	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:72111608G>A	uc003xyu.3	-	17	2386	c.1746C>T	c.(1744-1746)gcC>gcT	p.A582A	EYA1_uc003xyt.4_Silent_p.A549A|EYA1_uc003xyr.4_Silent_p.A547A|EYA1_uc010lzf.3_Silent_p.A509A|EYA1_uc003xys.4_Silent_p.A582A|EYA1_uc011lfe.2_Silent_p.A576A|EYA1_uc003xyv.3_Silent_p.A460A	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	582					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CATGGTGCAGGGCCATGAGGT	0.617000														20			7		0	0	1	0	0
MRE11A	4361	broad.mit.edu	37	11	94180480	94180480	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:94180480G>A	uc009ywj.2	-	14	2017	c.1697C>T	c.(1696-1698)tCa>tTa	p.S566L	MRE11A_uc001peu.2_Missense_Mutation_p.S563L|MRE11A_uc001pev.2_Missense_Mutation_p.S563L			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	563					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	p.S563L(2)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GGTTGCTGCTGAGATGCTATC	0.483000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder					196			73		0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11191312	11191312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:11191312G>A	uc003mzv.2	-	4	957	c.790C>T	c.(790-792)Cct>Tct	p.P264S	NEDD9_uc010joz.2_Missense_Mutation_p.P264S|NEDD9_uc003mzw.3_Missense_Mutation_p.P118S	NM_006403	NP_006394	Q14511	CASL_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 9 (NEDD9), transcript variant 1, mRNA.	264					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	Golgi apparatus|cell cortex|focal adhesion|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CAGGTTGGAGGAATGTCATAA	0.557000														85			19		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89979993	89979993	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89979993G>A	uc003kju.3	+	27	6351	c.6255G>A	c.(6253-6255)gcG>gcA	p.A2085A	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2085					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTTAGTAGCGAAAGTACAGA	0.333000														20			11		0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57494895	57494895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:57494895C>T	uc003dit.2	-	5	695	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	DNAH12_uc003diu.2_Missense_Mutation_p.E172K	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	172	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GGACCTCCTTCATCTTCAAGC	0.313000														75			23		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94645345	94645345	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94645345G>A	uc001dqj.4	-	19	2785	c.2416C>T	c.(2416-2418)Ctt>Ttt	p.L806F	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.L372F	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	806	Rho-GAP.				Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TGTCTTAGAAGGTCTTTGCTT	0.289000														90			35		0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72842210	72842210	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72842210C>T	uc002jlt.1	-	10	2501	c.2345G>A	c.(2344-2346)gGg>gAg	p.G782E	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.G782E	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	782					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CCCACCGTCCCCCAGGAACTG	0.612000														104			34		0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38766521	38766521	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:38766521G>A	uc003tgy.3	-	27	2498	c.2472C>T	c.(2470-2472)ccC>ccT	p.P824P	VPS41_uc003tgz.3_Silent_p.P799P|VPS41_uc010kxn.3_Silent_p.P735P|VPS41_uc003tgx.3_Non-coding_Transcript	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	824					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGCTGGGCATGGGCAGGCACT	0.512000														88			21		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124305219	124305219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124305219C>T	uc001uft.4	+	22	3764	c.3739C>T	c.(3739-3741)Cct>Tct	p.P1247S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1247	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTCGATCTTCCTATTACAAT	0.443000														76			21		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19191795	19191795	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19191795C>T	uc002dfw.3	+	3	596	c.265C>T	c.(265-267)Ccg>Tcg	p.P89S	SYT17_uc002dfx.3_Missense_Mutation_p.P28S|SYT17_uc002dfy.3_Missense_Mutation_p.P85S	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	89						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GACCAATTCCCCGGATGGAAG	0.572000											OREG0023658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			17		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541273	55541273	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55541273G>A	uc010ril.2	+	0	360	c.360G>A	c.(358-360)atG>atA	p.M120I		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TAGCAGCGATGGCTTATGACC	0.433000														192			69		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47847945	47847945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:47847945G>A	uc003tny.2	-	51	7761	c.7727C>T	c.(7726-7728)tCc>tTc	p.S2576F	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2576					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AAGGTGGCCGGAAACTGCATA	0.527000														44			15		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96609693	96609693	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96609693C>T	uc010qnz.2	+	7	1169	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F	CYP2C19_uc010qny.2_Missense_Mutation_p.S368F	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	390					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ATATTAACTTCCCTCACTTCT	0.393000														166			78		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62672641	62672641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62672641G>A	uc021ooc.1	+	3	776	c.341G>A	c.(340-342)gGg>gAg	p.G114E	L1TD1_uc001dae.4_Missense_Mutation_p.G114E	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	114										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						caaaaaacagggatggtaggg	0.333000														116			34		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813687	123813687	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123813687G>A	uc010sab.2	-	0	859	c.859C>T	c.(859-861)Cca>Tca	p.P287S		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AAGATGAATGGGTTCAAGAGG	0.522000														227			26		0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158914789	158914789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158914789C>T	uc001ftb.3	+	6	1566	c.1316C>T	c.(1315-1317)cCt>cTt	p.P439L	PYHIN1_uc001ftc.3_Missense_Mutation_p.P430L|PYHIN1_uc001ftd.3_Missense_Mutation_p.P439L|PYHIN1_uc001fte.3_Missense_Mutation_p.P430L	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	439					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CTCAAGACTCCTCAGATGCCA	0.493000														133			39		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79440571	79440571	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:79440571C>T	uc003hlb.2	+	66	10916	c.10476C>T	c.(10474-10476)gcC>gcT	p.A3492A		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3487					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGGGCTGGGCCTCCTTGGAGC	0.527000														172			68		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75022211	75022211	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75022211G>A	uc001xqa.3	-	3	1403	c.1016C>T	c.(1015-1017)cCc>cTc	p.P339L		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	339					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTTACCCCAGGGGGATGAGGG	0.622000														128			21		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62738910	62738910	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62738910C>T	uc001dah.4	-	2	2243	c.1866G>A	c.(1864-1866)aaG>aaA	p.K622K	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	622										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCGGTGGCTCCTTGGGTGGGT	0.607000														41			23		0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155002584	155002584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155002584C>T	uc001fgm.3	-	6	1233	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	DCST2_uc009wpb.3_Non-coding_Transcript	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	385						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CGCCTGGCCTCGTGAGCACTG	0.652000														57			27		0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25961910	25961910	+	Silent	SNP	G	A	A	rs139636096		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:25961910G>A	uc010ayu.3	-	8	1849	c.1743C>T	c.(1741-1743)gtC>gtT	p.V581V		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	581					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACGTGACGACGACTGTGTTGC	0.587000														150			13		0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52862934	52862934	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52862934C>T	uc001sal.4	-	8	1655	c.1607G>A	c.(1606-1608)gGg>gAg	p.G536E		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	536	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GAGGCCACCCCCAATGGCTCT	0.592000														69			22		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14492705	14492705	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:14492705C>T	uc003jff.3	+	48	7668	c.7662C>T	c.(7660-7662)tcC>tcT	p.S2554S	TRIO_uc003jfg.3_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2554	SH3 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCAACATCTCCACCATGTTGG	0.502000														39			17		0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122776679	122776679	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:122776679G>A	uc003ied.3	-	5	750	c.566C>T	c.(565-567)cCc>cTc	p.P189L	BBS7_uc003iee.2_Missense_Mutation_p.P189L	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	189					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GACAGTAGGGGGTCCAGGAAC	0.348000									Bardet-Biedl syndrome					116			58		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084500	9084500	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9084500C>T	uc002mkp.3	-	0	7519	c.7315G>A	c.(7315-7317)Ggg>Agg	p.G2439R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2439	Ser-rich.|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						TTGGAGCCCCCATCAAGAGAA	0.502000														42			4		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156749	22156749	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22156749G>A	uc021urr.1	-	3	1236	c.1087C>T	c.(1087-1089)Cat>Tat	p.H363Y	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)				TCTCCAGTATGAATTACCTTA	0.388000														48			22		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28714076	28714076	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28714076G>A	uc002kwn.3	-	12	2156	c.1894C>T	c.(1894-1896)Cgt>Tgt	p.R632C	DSC1_uc002kwm.3_Missense_Mutation_p.R632C	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	632	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGCCGTTGACGAAGAATGGCA	0.353000														79			33		0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10555134	10555134	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10555134G>A	uc003wtd.1	+	2	296	c.267G>A	c.(265-267)acG>acA	p.T89T	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA.	89										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		AGGCTGTGACGATCCTGGGGA	0.587000														142			12		0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96789678	96789678	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:96789678C>T	uc010yui.2	-	8	1207	c.1207G>A	c.(1207-1209)Gga>Aga	p.G403R		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	403					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GGCTGGATTCCTGCTTCTGAA	0.592000														67			30		0	0	1	0	0
MRPL4	51073	broad.mit.edu	37	19	10368915	10368916	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10368915_10368916CC>TT	uc002mnm.3	+	6	617_618	c.463_464CC>TT	c.(463-465)ccc>TTc	p.P155F	MRPL4_uc002mnn.3_Missense_Mutation_p.P155F|MRPL4_uc002mno.3_Missense_Mutation_p.P155F	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	155					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TGCCCATGGCCCCCGGGGCCCC	0.639000														39			5		0	0	1	0	0
USP46	64854	broad.mit.edu	37	4	53476724	53476724	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:53476724G>A	uc003gzn.3	-	4	806	c.621C>T	c.(619-621)tcC>tcT	p.S207S	USP46_uc003gzm.4_Silent_p.S200S|USP46_uc011bzr.2_Silent_p.S184S|USP46_uc011bzs.2_Silent_p.S91S	NM_022832	NP_073743	P62068	UBP46_HUMAN	Homo sapiens ubiquitin specific peptidase 46 (USP46), transcript variant 1, mRNA.	207					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			AGTGGGTAATGGATGTATTCT	0.363000														31			15		0	0	1	0	0
NECAB2	54550	broad.mit.edu	37	16	84024144	84024144	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84024144C>T	uc002fhd.3	+	5	522	c.505C>T	c.(505-507)Ctc>Ttc	p.L169F	NECAB2_uc002fhe.3_Missense_Mutation_p.L86F	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN	Homo sapiens N-terminal EF-hand calcium binding protein 2 (NECAB2), mRNA.	169					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						GACCCGCTTCCTCCTGAAGGA	0.587000														54			26		0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7186949	7186949	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7186949C>T	uc002gfp.3	+	2	508	c.308C>T	c.(307-309)tCt>tTt	p.S103F	SLC2A4_uc010cmd.3_Non-coding_Transcript|SLC2A4_uc021tpa.1_Missense_Mutation_p.S93F	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	103					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGTATCATCTCTCAGTGGCTT	0.617000														45			26		0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56390337	56390337	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:56390337G>A	uc010bfn.3	-	7	1049	c.1049C>T	c.(1048-1050)tCa>tTa	p.S350L	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.S164L	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	253					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGAAAGGATTGAAGGATTTCC	0.423000														46			21		0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33696629	33696629	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:33696629G>A	uc010edh.3	+	4	1046	c.953G>A	c.(952-954)gGg>gAg	p.G318E	LRP3_uc010xrp.1_Missense_Mutation_p.G192E|LRP3_uc002nuk.4_Missense_Mutation_p.G192E	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	318	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GGCGAGCGCGGGGACCGCCTG	0.711000														23			3		0	0	1	0	0
FLYWCH2	114984	broad.mit.edu	37	16	2946512	2946512	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2946512C>T	uc002csa.3	+	2	433	c.62C>T	c.(61-63)tCc>tTc	p.S21F	FLYWCH2_uc010uwj.2_Missense_Mutation_p.S21F|FLYWCH2_uc010uwk.2_Missense_Mutation_p.S21F	NM_138439	NP_612448	Q96CP2	FWCH2_HUMAN	Homo sapiens FLYWCH family member 2 (FLYWCH2), transcript variant 1, mRNA.	21										central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						CAGGAGCCATCCCCCAAGCCA	0.652000														82			15		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45292968	45292968	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:45292968G>A	uc010olf.2	-	15	2397	c.2385C>T	c.(2383-2385)gcC>gcT	p.A795A	PTCH2_uc021omv.1_Silent_p.A795A|PTCH2_uc010olg.2_Silent_p.A493A	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	795					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCTGGTCAAAGGCAGCCTGGA	0.637000									Basal Cell Nevus syndrome					88			14		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23866398	23866398	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23866398G>A	uc001wjv.3	-	16	2102	c.2031C>T	c.(2029-2031)ccC>ccT	p.P677P		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	677	Actin-binding.|Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			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)		TCCGCTCATTGGGGATGATGC	0.552000														127			60		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26906074	26906074	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:26906074G>A	uc003jgs.1	-	4	974	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	CDH9_uc010iug.3_Missense_Mutation_p.P269S	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	269	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P269P(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTACTCTGGGGAAATCGAGGA	0.428000														171			56		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	48996764	48996764	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:48996764G>A	uc003gyv.3	+	4	822	c.640G>A	c.(640-642)Gga>Aga	p.G214R	CWH43_uc011bzl.2_Missense_Mutation_p.G187R	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	214					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTGGGTTTTTGGAGAAGTCTC	0.547000														116			46		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76412312	76412312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:76412312G>A	uc021rkq.1	+	19	3766	c.3431G>A	c.(3430-3432)cGa>cAa	p.R1144Q	LMO7_uc010thv.2_Missense_Mutation_p.R862Q|LMO7_uc001vjt.1_Missense_Mutation_p.R810Q|LMO7_uc001vjv.3_Missense_Mutation_p.R911Q|LMO7_uc010thw.2_Missense_Mutation_p.R788Q|LMO7_uc001vjw.1_Missense_Mutation_p.R817Q	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1196						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTAAAAAGGCGATCACAATTT	0.338000														40			9		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108380669	108380669	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:108380669G>A	uc001pkk.3	-	5	5676	c.5565C>T	c.(5563-5565)ctC>ctT	p.L1855L	EXPH5_uc010rvz.2_Silent_p.L1699L|EXPH5_uc010rvy.2_Silent_p.L1667L	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1855					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CACAGGAGGGGAGTTCAGAAA	0.448000														56			15		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8499829	8499829	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:8499829G>A	uc003zkk.3	-	24	2883	c.2140C>T	c.(2140-2142)Cct>Tct	p.P714S	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	714	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTGCGAGGAGGACCACTAGGA	0.443000										TSP Lung(15;0.13)				61			8		0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196581607	196581607	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196581607C>T	uc002utg.4	+	6	2157	c.1943C>T	c.(1942-1944)tCt>tTt	p.S648F	SLC39A10_uc002uth.4_Missense_Mutation_p.S648F|SLC39A10_uc010zgp.2_Missense_Mutation_p.S198F	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	648	His-rich.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CACAAGCATTCTCATCATTCC	0.488000														108			21		0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110681737	110681737	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:110681737C>T	uc011cft.2	-	4	922	c.714G>A	c.(712-714)atG>atA	p.M238I	CFI_uc003hzq.3_Missense_Mutation_p.M35I|CFI_uc003hzr.4_Missense_Mutation_p.M238I	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	238	LDL-receptor class A 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CACAGGCTTTCATCTGAGAAA	0.348000														68			30		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38783393	38783393	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38783393G>A	uc021yzh.1	+	25	3592	c.3483G>A	c.(3481-3483)gtG>gtA	p.V1161V	DNAH8_uc003ooe.2_Silent_p.V944V	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTACTGACGTGACCCATCAAA	0.453000														49			12		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122811931	122811931	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:122811931G>A	uc003vkm.3	-	2	281	c.256C>T	c.(256-258)Cac>Tac	p.H86Y	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	86						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AGCAGTAAGTGAAAATCCTTG	0.338000														79			26		0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22263514	22263514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:22263514C>T	uc004dah.3	+	20	2338	c.2135C>T	c.(2134-2136)cCc>cTc	p.P712L	PHEX_uc011mjr.2_Intron|PHEX_uc011mjs.2_Missense_Mutation_p.P615L	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	712					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GCTCACAGTCCCCCTCAGTTT	0.502000														96			18		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388862	48388862	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48388862G>A	uc001jez.3	-	0	2130	c.2016C>T	c.(2014-2016)gcC>gcT	p.A672A		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	672	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTGTGCGGTAGGCGCCCTGGG	0.667000														25			13		0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69718372	69718372	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:69718372G>A	uc004dyi.2	+	13	2169	c.1822G>A	c.(1822-1824)Gga>Aga	p.G608R	DLG3_uc004dyj.2_Missense_Mutation_p.G303R|DLG3_uc011mpn.2_Missense_Mutation_p.G157R	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	608					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TGTTGCAGAAGGACAAGAGGA	0.517000														13			8		0	0	1	0	0
O3FAR1	338557	broad.mit.edu	37	10	95347003	95347003	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95347003C>T	uc010qnt.2	+	3	827	c.771C>T	c.(769-771)ctC>ctT	p.L257L	O3FAR1_uc010qnu.2_Silent_p.L241L	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	257					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding			breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						GGAAGAGGCTCACGGTAAGCC	0.567000														53			26		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119929406	119929406	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:119929406C>T	uc001ehr.1	+	4	855	c.723C>T	c.(721-723)atC>atT	p.I241I	HAO2_uc001ehq.1_Silent_p.I241I	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	241	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TCCAGGGTATCATTGTTTCCA	0.453000														95			33		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45309885	45309885	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:45309885G>A	uc003bfn.3	-	4	799	c.648C>T	c.(646-648)ccC>ccT	p.P216P	PHF21B_uc011aqk.2_Intron|PHF21B_uc003bfm.3_Intron|PHF21B_uc011aql.2_Intron|PHF21B_uc011aqm.1_Intron	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	216							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		gtgatggggagggaggggtga	0.642000														40			20		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144995679	144995679	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144995679G>A	uc003zaf.1	-	31	8891	c.8721C>T	c.(8719-8721)gcC>gcT	p.A2907A	PLEC_uc003zab.1_Silent_p.A2770A|PLEC_uc003zac.1_Silent_p.A2774A|PLEC_uc003zad.2_Silent_p.A2770A|PLEC_uc003zae.1_Silent_p.A2738A|PLEC_uc003zag.1_Silent_p.A2748A|PLEC_uc003zah.2_Silent_p.A2756A|PLEC_uc003zaj.2_Silent_p.A2797A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2907	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGCGCGCTCGGCCGACAGCA	0.657000														64			20		0	0	1	0	0
GALP	85569	broad.mit.edu	37	19	56691959	56691959	+	Missense_Mutation	SNP	G	A	A	rs149853638		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56691959G>A	uc002qmo.1	+	2	174	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	GALP_uc010eti.2_Intron	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA.	31					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		ATCCAGGGACGAGGAGGCTGG	0.607000														54			10		0	0	1	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145473840	145473840	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:145473840C>T	uc021ouy.1	+	0	512	c.512C>T	c.(511-513)cCt>cTt	p.P171L	ANKRD34A_uc001enq.1_Missense_Mutation_p.P171L	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	171										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGGAGGACCCTGCTCCCGCC	0.627000														80			15		0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48047090	48047090	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:48047090C>T	uc004diz.1	-	7	720	c.667G>A	c.(667-669)Gac>Aac	p.D223N	SSX5_uc004dja.1_Missense_Mutation_p.D182N	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TCCTGAGGGTCGCTGATCTCT	0.483000														114			114		0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52710324	52710324	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52710324G>A	uc001saf.2	-	5	1032	c.969C>T	c.(967-969)acC>acT	p.T323T		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	323	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTCCTCCTTGGTGCGGCGCA	0.597000														80			7		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862740	14862740	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:14862740C>T	uc003bzc.3	+	0	2272	c.2162C>T	c.(2161-2163)tCc>tTc	p.S721F	FGD5_uc011avk.2_Missense_Mutation_p.S721F	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	721					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCCCCCTCCTCCCTCATCTTT	0.582000														61			25		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340778	121340778	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121340778G>A	uc003eeg.2	+	2	712	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	168					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CAGTGTGGAGGAAATGGGAGG	0.488000														38			15		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20486717	20486717	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20486717G>A	uc010bwe.3	+	7	1167	c.928G>A	c.(928-930)Ggt>Agt	p.G310S	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.G231S|ACSM2A_uc002dhf.4_Missense_Mutation_p.G310S|ACSM2A_uc002dhg.4_Missense_Mutation_p.G310S|ACSM2A_uc010vay.2_Missense_Mutation_p.G231S|ACSM2A_uc002dhh.4_5'Flank	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	310					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GAGTATGATGGGTGCCCCCAT	0.512000														96			34		0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168266990	168266990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:168266990C>T	uc001gfl.3	+	3	683	c.632C>T	c.(631-633)cCt>cTt	p.P211L	TBX19_uc001gfj.4_Missense_Mutation_p.P142L|TBX19_uc001gfm.3_5'UTR	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	211					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					AAGTACAATCCTTTTGCCAAA	0.338000														26			22		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48463602	48463602	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48463602G>A	uc003csw.2	-	5	1702	c.1432C>T	c.(1432-1434)Cct>Tct	p.P478S	PLXNB1_uc003csu.2_Missense_Mutation_p.P478S|PLXNB1_uc003csx.2_Missense_Mutation_p.P478S|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	478	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAAGCCACAGGAACCTTCAGA	0.592000														33			21		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151164261	151164261	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151164261C>T	uc011bod.2	-	3	3508	c.3508G>A	c.(3508-3510)Gaa>Aaa	p.E1170K		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1170					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTTTAGCTTCATTGGTGCTA	0.418000														273			106		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922292	24922292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24922292C>T	uc001ywo.3	+	0	1752	c.1278C>T	c.(1276-1278)atC>atT	p.I426I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	426	Pro-rich.				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)		CTTTGCCCATCCCTGACTTGG	0.547000														85			28		0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55336670	55336670	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:55336670C>T	uc002lgw.3	-	17	2097	c.1977G>A	c.(1975-1977)aaG>aaA	p.K659K	LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	659			Missing (in PFIC1).		ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CTTCAATTTCCTTGTAGCAAA	0.343000														49			12		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31709925	31709925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:31709925G>A	uc010dmi.3	-	1	622	c.324C>T	c.(322-324)ttC>ttT	p.F108F	NOL4_uc002kxr.4_5'UTR|NOL4_uc010xbt.2_Silent_p.F34F|NOL4_uc010dmh.3_Silent_p.F34F|NOL4_uc010xbu.2_Silent_p.F108F|NOL4_uc002kxt.4_Silent_p.F108F	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	108						nucleolus	RNA binding	p.D107V(1)		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						TAATGTCAAAGAAATCTTCAA	0.393000														81			30		0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61233692	61233692	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:61233692C>T	uc010fci.3	-	4	528	c.468_splice	c.e4+1	p.E156_splice	PUS10_uc002sao.3_Splice_Site_p.E156_splice|PUS10_uc010ypk.2_Splice_Site	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	Homo sapiens pseudouridylate synthase 10 (PUS10), mRNA.	156					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			ATGACCTTACCTCTCTTACAG	0.373000														70			5		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80419559	80419559	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:80419559C>T	uc003kha.2	+	15	2619	c.2569C>T	c.(2569-2571)Cgg>Tgg	p.R857W	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	857					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTCAACTCCTCGGCACCTCCG	0.532000														48			17		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11450874	11450874	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:11450874C>T	uc021zzo.1	-	18	4010	c.3758G>A	c.(3757-3759)cGa>cAa	p.R1253Q	THSD7A_uc021zzn.1_Missense_Mutation_p.R1251Q	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1253	TSP type-1 12.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCCATCACTTCGAACACAATC	0.403000										HNSCC(18;0.044)				48			20		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102445	168102445	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:168102445G>A	uc002udx.3	+	8	4632	c.4543G>A	c.(4543-4545)Gaa>Aaa	p.E1515K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E1340K|XIRP2_uc010fpq.3_Missense_Mutation_p.E1293K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1340					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATGACCAAGGAAGAAATCCC	0.358000														100			50		0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42940083	42940083	+	Silent	SNP	G	A	A	rs146924589	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:42940083G>A	uc002ihn.2	-	15	1866	c.1605C>T	c.(1603-1605)gcC>gcT	p.A535A	EFTUD2_uc010wje.1_Silent_p.A500A|EFTUD2_uc010wjf.1_Silent_p.A525A	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	535						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GGCAGTACCTGGCCACAGAGA	0.582000														10			7		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618198	77618198	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:77618198G>A	uc003yau.2	+	1	2262	c.1875G>A	c.(1873-1875)tcG>tcA	p.S625S	ZFHX4_uc003yat.1_Silent_p.S625S|ZFHX4_uc003yaw.1_Silent_p.S625S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	625						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S625L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGGGTCTTCGAGGTCTCTTG	0.532000										HNSCC(33;0.089)				48			19		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072199	17072199	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17072199G>A	uc002zlp.1	-	0	1502	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	414					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCATTTCTGTGGCCCCAGCTC	0.547000														60			25		0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3391322	3391322	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3391322C>T	uc001akg.4	+	8	1604	c.1356C>T	c.(1354-1356)agC>agT	p.S452S	ARHGEF16_uc001aki.3_Silent_p.S164S|ARHGEF16_uc001akj.3_Silent_p.S164S|ARHGEF16_uc010nzh.2_Silent_p.S156S	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	452	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGGCTGCCAGCCGTGCACTGA	0.632000														78			14		0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17447105	17447105	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:17447105C>T	uc003wxr.3	+	2	629	c.184C>T	c.(184-186)Cca>Tca	p.P62S		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	62	Ig-like C2-type 1.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CAATTCAGCACCAAAGACGCA	0.498000														112			23		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9389291	9389291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9389291C>T	uc021wam.1	+	18	1780	c.1765C>T	c.(1765-1767)Cat>Tat	p.H589Y	PLCB4_uc010gbw.1_Missense_Mutation_p.H589Y|PLCB4_uc010gbx.3_Missense_Mutation_p.H601Y|PLCB4_uc021wal.1_Missense_Mutation_p.H589Y|PLCB4_uc002wnh.3_Missense_Mutation_p.H436Y	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	589	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ACGCAATATTCATTATAACAT	0.358000														24			7		0	0	1	0	0
C2orf50	130813	broad.mit.edu	37	2	11284107	11284107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:11284107C>T	uc010yji.1	+	2	641	c.359C>T	c.(358-360)cCc>cTc	p.P120L	C2orf50_uc010yjj.1_Missense_Mutation_p.P120L	NM_182500	NP_872306	Q96LR7	CB050_HUMAN	Homo sapiens chromosome 2 open reading frame 50 (C2orf50), mRNA.	120										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		GACACAGTTCCCAGTTCCACG	0.582000														71			19		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20512748	20512748	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:20512748C>T	uc003gpr.1	+	10	1250	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F	SLIT2_uc003gps.1_Missense_Mutation_p.S349F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	349					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.S349S(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGACTACGCTCTCTGAATTCA	0.383000														68			22		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221334	140221334	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140221334C>T	uc003lhs.2	+	0	428	c.428C>T	c.(427-429)tCa>tTa	p.S143L	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_uc003lhr.1_Missense_Mutation_p.S143L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	158	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTTTGTTTCAGAATCCAGA	0.517000														113			49		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161300263	161300263	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:161300263G>A	uc010jiw.3	+	5	864	c.396G>A	c.(394-396)aaG>aaA	p.K132K	GABRA1_uc010jix.3_Silent_p.K132K|GABRA1_uc010jiy.3_Silent_p.K132K|GABRA1_uc003lyx.4_Silent_p.K132K|GABRA1_uc010jiz.3_Silent_p.K132K|GABRA1_uc010jja.3_Silent_p.K132K|GABRA1_uc010jjb.3_Silent_p.K132K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	132				Missing (in Ref. 4; CAA31925).	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ACAATGGAAAGAAGTCAGTGG	0.463000														55			9		0	0	1	0	0
PDP2	57546	broad.mit.edu	37	16	66919186	66919186	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:66919186C>T	uc021tjw.1	+	0	999	c.999C>T	c.(997-999)atC>atT	p.I333I	PDP2_uc002eqk.2_Silent_p.I333I	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	333					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GGACGATCATCATGGAGGACA	0.587000														47			6		0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25311436	25311436	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:25311436C>T	uc001rgk.3	-	3	250	c.168G>A	c.(166-168)gaG>gaA	p.E56E	CASC1_uc001rgj.3_Silent_p.E10E|CASC1_uc001rgm.4_Silent_p.E114E|CASC1_uc001rgl.3_Silent_p.E50E|CASC1_uc010sje.2_Intron|CASC1_uc010sjf.2_Intron|CASC1_uc010sjg.1_Silent_p.E50E|CASC1_uc010sjh.1_Non-coding_Transcript	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	50	Glu-rich.									breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ATTTTTCTTTCTCAATTCGCT	0.289000														34			28		0	0	1	0	0
HSD17B13	345275	broad.mit.edu	37	4	88243952	88243952	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:88243952G>A	uc003hqo.2	-	0	105	c.42C>T	c.(40-42)atC>atT	p.I14I	HSD17B13_uc010ikk.2_Silent_p.I14I	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.	14						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		AGGAGTAGATGATGGTGATCA	0.468000														47			19		0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36570342	36570342	+	Silent	SNP	G	A	A	rs144959929	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36570342G>A	uc003cgh.1	+	9	1014	c.975G>A	c.(973-975)ggG>ggA	p.G325G	STAC_uc011aya.1_Silent_p.G264G	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	325	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CCTTTCAGGGGAAAATTCAAG	0.338000														28			13		0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45829220	45829220	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:45829220G>A	uc002rus.3	-	2	159	c.83C>T	c.(82-84)tCa>tTa	p.S28L		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	28					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AGAGGCAGATGATCTAGAAGT	0.398000														92			36		0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119053962	119053962	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:119053962C>T	uc001pvu.3	+	9	2957	c.2742C>T	c.(2740-2742)ctC>ctT	p.L914L	NLRX1_uc001pvv.3_Intron|NLRX1_uc001pvw.3_Silent_p.L914L|NLRX1_uc001pvx.3_Silent_p.L914L|PDZD3_uc001pvz.3_5'Flank|PDZD3_uc010rzd.2_5'Flank|PDZD3_uc001pvy.3_5'Flank|PDZD3_uc001pwa.3_5'Flank|PDZD3_uc001pwb.3_5'Flank	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	914	Required for the repression of MAVS- induced interferon signaling.				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)		CAGTGATCCTCAGTGAAGTCC	0.617000														74			9		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75888726	75888726	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:75888726C>T	uc003kek.3	+	8	1105	c.883C>T	c.(883-885)Caa>Taa	p.Q295*		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	295					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGCAGAAATCCAAGGCAATAT	0.358000														124			56		0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233322985	233322985	+	Silent	SNP	G	A	A	rs143128875		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233322985G>A	uc002vst.4	+	8	1127	c.1050G>A	c.(1048-1050)gcG>gcA	p.A350A	ALPI_uc002vsu.4_Silent_p.A261A	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	350					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.A350V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TCACTGAGGCGGTCATGTTCG	0.627000														51			23		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87026001	87026001	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:87026001C>T	uc009wcs.3	+	2	452	c.408C>T	c.(406-408)gaC>gaT	p.D136D	CLCA4_uc009wct.3_5'UTR|CLCA4_uc009wcu.3_Intron	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	136						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.P135L(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)		TCACCCCTGACCTTCTACTTG	0.388000														69			35		0	0	1	0	0
STAC3	246329	broad.mit.edu	37	12	57642935	57642935	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57642935C>T	uc001snp.2	-	2	425	c.223G>A	c.(223-225)Gag>Aag	p.E75K	STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Missense_Mutation_p.E36K|STAC3_uc010srm.1_Intron	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	Homo sapiens SH3 and cysteine rich domain 3 (STAC3), mRNA.	75	Poly-Glu.				intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GGTGGctcctcctcctcctct	0.552000														64			30		0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89166025	89166025	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:89166025C>T	uc001pct.3	-	7	715	c.476_splice	c.e7-1	p.V159_splice	NOX4_uc009yvr.3_Splice_Site_p.V134_splice|NOX4_uc001pcu.3_Splice_Site_p.V85_splice|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Splice_Site_p.V159_splice|NOX4_uc009yvo.3_Splice_Site|NOX4_uc010rtu.2_Splice_Site|NOX4_uc009yvp.3_Splice_Site_p.V159_splice|NOX4_uc010rtv.2_Splice_Site_p.V135_splice|NOX4_uc009yvq.3_Splice_Site_p.V135_splice|NOX4_uc009yvs.1_Splice_Site	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	159	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGGCCAGGAACTATAAAAATG	0.353000														36			7		0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	27009158	27009158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:27009158C>T	uc003gsg.4	+	7	1513	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	STIM2_uc003gsh.4_Missense_Mutation_p.R329C|STIM2_uc010iex.3_Missense_Mutation_p.R329C|STIM2_uc010iey.3_Missense_Mutation_p.R40C	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	Homo sapiens stromal interaction molecule 2 (STIM2), transcript variant 2, mRNA.	329					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				cttcTAGGTTCGCATGGCTCT	0.383000														43			5		0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	86068206	86068206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:86068206G>A	uc004eew.2	+	8	1633	c.1463G>A	c.(1462-1464)cGa>cAa	p.R488Q	DACH2_uc004eex.2_Missense_Mutation_p.R475Q|DACH2_uc010nmq.2_Missense_Mutation_p.R354Q|DACH2_uc011mra.1_Missense_Mutation_p.R321Q|DACH2_uc010nmr.2_Missense_Mutation_p.R269Q|DACH2_uc004eey.3_Missense_Mutation_p.R181Q|DACH2_uc004eez.3_Missense_Mutation_p.R171Q	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	488	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.L487Q(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AAGGAGCTGCGACTGGAGCTC	0.413000														7			15		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3000022	3000022	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:3000022G>A	uc022aqr.1	-	40	6596	c.6206C>T	c.(6205-6207)tCg>tTg	p.S2069L	CSMD1_uc011kwj.2_Missense_Mutation_p.S1462L|CSMD1_uc010lrg.3_Missense_Mutation_p.S138L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2070	CUB 12.					integral to membrane		p.S2069L(1)|p.S1798L(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGGTTTTGCGAATGGTCACT	0.453000														43			11		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27197484	27197484	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:27197484C>T	uc011lno.2	+	10	2109	c.1667C>T	c.(1666-1668)tCg>tTg	p.S556L	TEK_uc003zqi.4_Missense_Mutation_p.S599L|TEK_uc011lnp.2_Missense_Mutation_p.S452L|TEK_uc003zqj.1_Missense_Mutation_p.S533L|5S_rRNA_uc022bex.1_5'Flank	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	599	Fibronectin type-III 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AACTTGACTTCGGTGCTACTT	0.463000														85			50		0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7846791	7846792	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7846791_7846792GG>AA	uc010rbg.2	-	0	728_729	c.728_729CC>TT	c.(727-729)tcc>tTT	p.S243F		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T242T(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGTGAGGTGGGAGGTGCAGGT	0.505000														88			23		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33624341	33624341	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:33624341C>T	uc003jia.1	-	13	2301	c.2138G>A	c.(2137-2139)gGa>gAa	p.G713E	ADAMTS12_uc010iuq.1_Intron	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	713	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E712Q(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATTACCAGATCCTTCCTTCTG	0.443000										HNSCC(64;0.19)				115			34		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43594307	43594307	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:43594307G>A	uc003tid.1	+	28	5232	c.4627G>A	c.(4627-4629)Gaa>Aaa	p.E1543K	HECW1_uc011kbi.1_Missense_Mutation_p.E1509K	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1543	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.E1522Q(1)|p.G1542G(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGTGCCCTACGAAGGCTTCGC	0.562000														35			9		0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100268	8100268	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:8100268G>A	uc001ijz.3	+	3	799	c.242_splice	c.e3-1	p.G81_splice	GATA3_uc001ika.3_Splice_Site_p.G81_splice	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	81					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TGCCCCACAGGGAGCCAGGTG	0.672000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""							61			33		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20489922	20489922	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20489922C>T	uc010bwe.3	+	10	1443	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	ACSM2A_uc010vax.1_Silent_p.L323L|ACSM2A_uc002dhf.4_Silent_p.L402L|ACSM2A_uc002dhg.4_Silent_p.L402L|ACSM2A_uc010vay.2_Silent_p.L323L|ACSM2A_uc002dhh.4_Silent_p.L32L	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.L402R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGGCAACGTCCTGCCCCCCGG	0.502000														75			8		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69683824	69683824	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69683824C>T	uc003hee.3	+	1	821	c.796C>T	c.(796-798)Cct>Tct	p.P266S	UGT2B10_uc011cam.2_Missense_Mutation_p.P182S	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	266					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTTTAAATTTCCTCATCCATT	0.383000														205			76		0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11505674	11505674	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:11505674G>A	uc001iks.1	-	13	1347	c.1304C>T	c.(1303-1305)cCc>cTc	p.P435L	USP6NL_uc001ikt.3_Missense_Mutation_p.P418L	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	418						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CCTGCTCTGGGGGTGCGGGGA	0.652000														38			16		0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132400950	132400950	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:132400950C>T	uc001uje.3	+	19	2154	c.1886C>T	c.(1885-1887)cCc>cTc	p.P629L		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	629					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TAGGCTGTGCCCTCCTTTGAC	0.692000														120			18		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43821264	43821264	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43821264C>T	uc001zrt.3	+	3	8060	c.7593C>T	c.(7591-7593)ctC>ctT	p.L2531L		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2531						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGGCAGCCCTCGACTCAGATG	0.587000														124			62		0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10280488	10280488	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10280488C>T	uc003bve.1	+	11	1606	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	510					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|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AGACGTTGCTCCCTTGGAGTG	0.557000														133			33		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221429	161221429	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:161221429G>A	uc011bpb.2	+	3	1133	c.1133G>A	c.(1132-1134)gGg>gAg	p.G378E		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	378	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CCTGTCACTGGGAAGTTTAAC	0.448000														29			11		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702138	181702138	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181702138G>A	uc009wxt.3	+	19	3111	c.2916G>A	c.(2914-2916)acG>acA	p.T972T	CACNA1E_uc001gow.3_Silent_p.T972T|CACNA1E_uc009wxs.3_Silent_p.T953T|CACNA1E_uc001gox.1_Silent_p.T198T	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	972					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.T972T(3)		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						AGGAGCCAACGATCCAAGAAG	0.562000														33			10		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230572	21230572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21230572C>T	uc002red.3	-	25	9296	c.9168G>A	c.(9166-9168)ttG>ttA	p.L3056L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3056					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AACGAACTTTCAAATTCCCTT	0.393000														70			24		0	0	1	0	0
C10orf47	254427	broad.mit.edu	37	10	11911718	11911718	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:11911718G>A	uc001ikx.3	+	3	775	c.621G>A	c.(619-621)ggG>ggA	p.G207G	LOC219731_uc001iky.2_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA.	207	Pro-rich.									central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						GGATGGCGGGGAACGAAGCCC	0.731000														6			7		0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71743780	71743780	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:71743780G>A	uc003twb.4	-	2	526	c.135C>T	c.(133-135)ttC>ttT	p.F45F	CALN1_uc003twa.4_Silent_p.F3F|CALN1_uc003twc.4_Silent_p.F3F	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	3	EF-hand 1.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.F45I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TCACATGGTGGAACGGCATCT	0.498000														47			12		0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34218898	34218898	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:34218898G>A	uc001mvl.2	-	2	1643	c.1218C>T	c.(1216-1218)ccC>ccT	p.P406P		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	220							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TCATTCTCGGGGGGTCCAGGT	0.587000														30			28		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45923856	45923856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:45923856G>A	uc010gzz.3	+	4	712	c.565G>A	c.(565-567)Gga>Aga	p.G189R	FBLN1_uc003bgg.1_Missense_Mutation_p.G151R|FBLN1_uc003bgh.3_Missense_Mutation_p.G151R|FBLN1_uc003bgi.1_Missense_Mutation_p.G151R|FBLN1_uc003bgj.1_Missense_Mutation_p.G151R	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	151	EGF-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	p.Q189H(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCAGGAGACCGGAGATTTGGA	0.572000														87			22		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114185980	114185980	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:114185980G>A	uc003ynu.3	-	3	839	c.680C>T	c.(679-681)tCg>tTg	p.S227L	CSMD3_uc003ynt.3_Missense_Mutation_p.S187L|CSMD3_uc011lhx.2_Missense_Mutation_p.S227L|CSMD3_uc010mcx.1_Missense_Mutation_p.S227L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	227	Sushi 1.					integral to membrane|plasma membrane				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						AAAATCCCACGAAGCTGTATT	0.433000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				132			17		0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131021480	131021480	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131021480G>A	uc011maw.2	-	18	1995	c.1982C>T	c.(1981-1983)gCc>gTc	p.A661V	GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004buh.3_Missense_Mutation_p.A134V|JA429730_uc022bod.1_5'Flank|Metazoa_SRP_uc022bof.1_5'Flank|DQ583692_uc022bog.1_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	661						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GGCCATCTCGGCCACCGCTTT	0.622000														30			12		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99439325	99439325	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:99439325C>T	uc002szf.1	-	6	1705	c.1411G>A	c.(1411-1413)Gga>Aga	p.G471R		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	471	Pro-rich.									NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						GTCCCCGCTCCTCTCTCGGGC	0.756000														34			13		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51900495	51900495	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:51900495C>T	uc003pah.1	-	27	3398	c.3122G>A	c.(3121-3123)gGc>gAc	p.G1041D	PKHD1_uc003pai.3_Missense_Mutation_p.G1041D	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1041	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAAACTAGAGCCTCGGATGGT	0.428000														52			26		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120984322	120984322	+	Missense_Mutation	SNP	G	A	A	rs150098939	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:120984322G>A	uc010rzo.2	+	4	685	c.685G>A	c.(685-687)Gag>Aag	p.E229K		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	229	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAGAACCCCCGAGATCGTGAA	0.478000														69			10		0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307132	39307132	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:39307132G>A	uc021wwc.1	-	1	1005	c.965C>T	c.(964-966)cCt>cTt	p.P322L	CX3CR1_uc021wwa.1_Missense_Mutation_p.P290L|CX3CR1_uc021wwb.1_Missense_Mutation_p.P290L|CX3CR1_uc003cjl.3_Missense_Mutation_p.P290L|CX3CR1_uc021wwd.1_Missense_Mutation_p.P290L	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	290					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		ATAGATGAGAGGATTCAGGCA	0.498000														87			41		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060569	9060569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9060569G>A	uc002mkp.3	-	2	27081	c.26877C>T	c.(26875-26877)ctC>ctT	p.L8959L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8961	Ser-rich.|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						ATGGCTCTGGGAGGCCTGGAT	0.463000														144			52		0	0	1	0	0
TBC1D20	128637	broad.mit.edu	37	20	428611	428611	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:428611G>A	uc002wds.3	-	1	316	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F	TBC1D20_uc002wdt.3_Non-coding_Transcript|TBC1D20_uc002wdv.3_5'UTR	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	Homo sapiens TBC1 domain family, member 20 (TBC1D20), mRNA.	60	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				TCAGTCAGGAGCCCTCCTTCA	0.527000														55			18		0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107773266	107773266	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:107773266C>T	uc003ymm.4	-	1	1199	c.1145G>A	c.(1144-1146)tGa>tAa	p.*382*		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	0					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTTGAAGGTTCACTTGAGTAG	0.413000														161			74		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052326	17052326	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:17052326C>T	uc011awc.2	+	2	1560	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Silent_p.F370F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	496	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGATAGTTTTCCGCAGTGTCA	0.398000														63			31		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633831	32633831	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:32633831G>A	uc003zrg.1	-	0	1837	c.1747C>T	c.(1747-1749)Cca>Tca	p.P583S	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.	583					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)		AGATTCCATGGATCTTTCACT	0.458000														261			117		0	0	1	0	0
HRH3	11255	broad.mit.edu	37	20	60791572	60791572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:60791572C>T	uc002yci.3	-	2	1125	c.828G>A	c.(826-828)ggG>ggA	p.G276G	HRH3_uc002ycf.2_Silent_p.G276G|HRH3_uc002ych.3_Intron|HRH3_uc002ycg.3_Intron	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	276					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CCTCACCCACCCCATACCTGT	0.756000														7			5		0	0	1	0	0
SERPINB8	5271	broad.mit.edu	37	18	61652454	61652454	+	Missense_Mutation	SNP	C	T	T	rs141770995		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61652454C>T	uc002ljv.3	+	5	864	c.695C>T	c.(694-696)cCc>cTc	p.P232L	SERPINB8_uc002ljt.3_Missense_Mutation_p.P232L|SERPINB8_uc002lju.3_Missense_Mutation_p.P232L|SERPINB8_uc010xex.2_Missense_Mutation_p.P50L	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	232					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				ATTCTGCTTCCCGATGACAAC	0.507000														51			14		0	0	1	0	0
VASH2	79805	broad.mit.edu	37	1	213147299	213147299	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:213147299C>T	uc001hjy.3	+	5	1086	c.882C>T	c.(880-882)atC>atT	p.I294I	VASH2_uc001hjv.2_Non-coding_Transcript|VASH2_uc001hjx.3_Silent_p.I229I|VASH2_uc010ptn.2_Silent_p.I190I|VASH2_uc001hjw.3_Silent_p.I250I	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN	Homo sapiens vasohibin 2 (VASH2), transcript variant 3, mRNA.	294					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		TCCTTCAGATCCTGAAACCTG	0.587000														29			17		0	0	1	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156725803	156725803	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:156725803C>T	uc003ipc.3	+	11	1780	c.1613C>T	c.(1612-1614)cCt>cTt	p.P538L	GUCY1B3_uc011cio.2_Missense_Mutation_p.P560L|GUCY1B3_uc011cip.2_Missense_Mutation_p.P518L|GUCY1B3_uc003ipd.3_Missense_Mutation_p.P466L|GUCY1B3_uc010iqf.3_Missense_Mutation_p.P505L|GUCY1B3_uc010iqg.3_Missense_Mutation_p.P509L|GUCY1B3_uc011ciq.2_Missense_Mutation_p.P466L	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA.	538	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CAGCGGATGCCTCGATACTGT	0.398000														100			13		0	0	1	0	0
RRP15	51018	broad.mit.edu	37	1	218458698	218458698	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:218458698G>A	uc001hlj.3	+	0	70	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K		NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN	Homo sapiens ribosomal RNA processing 15 homolog (S. cerevisiae) (RRP15), mRNA.	14						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		GAGTGAGGAAGAAAACCTGAA	0.547000														59			22		0	0	1	0	0
STBD1	8987	broad.mit.edu	37	4	77227995	77227995	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77227995G>A	uc003hka.3	+	0	817	c.73G>A	c.(73-75)Ggc>Agc	p.G25S	FAM47E_uc003hjy.3_Intron|FAM47E_uc011cbv.2_Intron|STBD1_uc011cbw.2_Intron	NM_003943	NP_003934	O95210	STBD1_HUMAN	Homo sapiens starch binding domain 1 (STBD1), mRNA.	25					carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	13			Lung(101;0.196)			GCTGCTGCGGGGCGGCCCTGG	0.697000											OREG0016232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			5		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185018440	185018440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:185018440C>T	uc003iwc.3	-	6	1217	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	359					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TCCATGAGCTCGTTGTCGTAG	0.567000														62			30		0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56277733	56277733	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56277733G>A	uc002ivq.3	+	9	1804	c.1685G>A	c.(1684-1686)cGa>cAa	p.R562Q		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	562					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						AACATGCAACGAAGCCGGGAC	0.617000											OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			21		0	0	1	0	0
HPCAL1	3241	broad.mit.edu	37	2	10560075	10560075	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:10560075C>T	uc002raj.3	+	2	566	c.192C>T	c.(190-192)ttC>ttT	p.F64F	HPCAL1_uc002ral.3_Silent_p.F64F|HPCAL1_uc010exe.3_Non-coding_Transcript|HPCAL1_uc010exf.3_Silent_p.F64F	NM_002149	NP_602293	P37235	HPCL1_HUMAN	Homo sapiens hippocalcin-like 1 (HPCAL1), transcript variant 1, mRNA.	64	EF-hand 2.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		CTTCCAAGTTCGCCGAGCACG	0.617000														79			9		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45958907	45958907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:45958907C>T	uc010gzz.3	+	15	2074	c.1927C>T	c.(1927-1929)Cgc>Tgc	p.R643C	FBLN1_uc003bgh.3_Missense_Mutation_p.R605C|FBLN1_uc003bgi.1_Intron|FBLN1_uc003bgj.1_Intron	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	618					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGTGGTTTTCCGCATGGGCCC	0.617000														172			67		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476983	20476983	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20476983C>T	uc010bwe.3	+	3	561	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.R29C|ACSM2A_uc002dhf.4_Missense_Mutation_p.R108C|ACSM2A_uc002dhg.4_Missense_Mutation_p.R108C|ACSM2A_uc010vay.2_Missense_Mutation_p.R29C	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	108					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.R108C(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCGTGGGGATCGTGTGGCAGT	0.572000														40			18		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207758215	207758215	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207758215C>T	uc001hfy.3	+	24	4314	c.4174C>T	c.(4174-4176)Cgt>Tgt	p.R1392C	CR1_uc009xcl.1_Missense_Mutation_p.R942C|CR1_uc001hfx.3_Missense_Mutation_p.R1842C|CR1_uc021pij.1_Missense_Mutation_p.R1392C	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1392					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACTTTCTGTTCGTGCTGGTCA	0.488000														86			41		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841951	94841951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:94841951G>A	uc002btj.3	+	0	522	c.457G>A	c.(457-459)Gag>Aag	p.E153K	MCTP2_uc010urg.1_Missense_Mutation_p.E153K|MCTP2_uc002bti.2_Missense_Mutation_p.E153K|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.E153K|MCTP2_uc002btg.4_Missense_Mutation_p.E153K|MCTP2_uc002bth.4_Missense_Mutation_p.E153K	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	153					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGCACCAGAAGAGCCAGAGGT	0.532000														101			29		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11004048	11004048	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:11004048G>A	uc002daj.4	+	12	2956	c.2823G>A	c.(2821-2823)acG>acA	p.T941T	CIITA_uc002dai.4_Silent_p.T940T|CIITA_uc002dak.4_Silent_p.T356T|CIITA_uc010bup.1_Missense_Mutation_p.R337Q	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	940			Missing (in BLS2).		interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCTCCAGGACGAGAAGTTCCT	0.567000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									20			5		0	0	1	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032136	46032136	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46032136C>T	uc002zfo.1	+	0	141	c.119C>T	c.(118-120)tCc>tTc	p.S40F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	40	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ACTGGCTCCTCCTGGCAGGTG	0.642000														109			15		0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29430209	29430209	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29430209G>A	uc003nmi.3	+	2	1106	c.663G>A	c.(661-663)caG>caA	p.Q221Q	OR2H1_uc003nmj.1_Silent_p.Q221Q|OR2H1_uc010jri.2_Silent_p.Q143Q|OR2H1_uc021ytr.1_Silent_p.Q221Q	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q221*(1)		large_intestine(5)|lung(12)	17						CCACTGCCCAGGCAGTGCTGA	0.532000														171			62		0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96970493	96970493	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96970493C>T	uc001kke.3	+	4	823	c.698C>T	c.(697-699)cCc>cTc	p.P233L	C10orf129_uc009xuu.1_Missense_Mutation_p.P143L	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	233					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		ACAGGAGCTCCCAAAATGGTC	0.507000														57			24		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3174071	3174071	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:3174071C>T	uc021xkv.1	+	29	4034	c.3889C>T	c.(3889-3891)Ctg>Ttg	p.L1297L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1297					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCTAGGATACCTGAAATCCTG	0.408000														126			11		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32259377	32259377	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32259377C>T	uc001bts.1	-	11	2563	c.2505G>A	c.(2503-2505)agG>agA	p.R835R	SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btu.3_Silent_p.R835R|SPOCD1_uc001btv.3_Silent_p.R328R|SPOCD1_uc021oks.1_Silent_p.R140R	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	835					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GAGACAACTCCCTGGTTTTGG	0.592000														112			74		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189675740	189675740	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:189675740C>T	uc011bsk.2	-	14	2476	c.2088G>A	c.(2086-2088)ggG>ggA	p.G696G	LEPREL1_uc003fsg.3_Silent_p.G515G	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	696					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTTCATGCTTCCCTTGCTGTT	0.313000											OREG0015985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			25		0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551788	248551788	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248551788G>A	uc001iei.1	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L292L(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			ACAGTCTGAGGAACAGGGATG	0.458000														59			13		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043742	20043742	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20043742C>T	uc002dgu.1	-	1	539	c.377G>A	c.(376-378)aGg>aAg	p.R126K	GPR139_uc010vaw.1_Missense_Mutation_p.R33K	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	126						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AGCGATATACCTGTCAATGGT	0.502000														73			24		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100266060	100266060	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:100266060C>T	uc021xqi.1	-	4		c.611G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTCGAAAATCCACAGCCAATG	0.507000														117			43		0	0	1	0	0
DEAF1	10522	broad.mit.edu	37	11	688045	688045	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:688045G>A	uc001lqq.1	-	3	1223	c.530C>T	c.(529-531)cCt>cTt	p.P177L	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Missense_Mutation_p.P177L	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	177					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		AGGGGTTGGAGGAGACTGAGG	0.572000														38			18		0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176524640	176524640	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176524640C>T	uc003mfl.3	+	17	2539	c.2372C>T	c.(2371-2373)tCc>tTc	p.S791F	FGFR4_uc003mfm.3_Missense_Mutation_p.S791F|FGFR4_uc011dfu.2_Missense_Mutation_p.S723F|FGFR4_uc003mfo.3_Missense_Mutation_p.S751F	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	791					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CCATTGGGATCCAGCTCCTTC	0.642000										TSP Lung(9;0.080)				62			29		0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	101013182	101013182	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:101013182G>A	uc002bwa.3	-	10	1289	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	CERS3_uc002bvz.3_Missense_Mutation_p.R229C|CERS3_uc002bwb.3_Missense_Mutation_p.R229C	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	229	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GTCCCACTGCGAATATAATTA	0.438000														156			15		0	0	1	0	0
BC035867	0	broad.mit.edu	37	22	20977088	20977088	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:20977088C>T	uc002zsv.3	-	4		c.1447G>A								Homo sapiens, clone IMAGE:5171202, mRNA.																		ACAAGGACACCATCCAGGCTG	0.582000														9			7		0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090203	238090203	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:238090203G>A	uc010pyc.2	+	11		c.1709G>A								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		TGCTGGGGACGATGCCCCCCA	0.602000														19			6		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370031	86370031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:86370031C>T	uc001vll.1	-	1	1072	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	SLITRK6_uc021rla.1_Missense_Mutation_p.E205K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	205						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CCAATGTGTTCGAGAAAACCA	0.403000														120			24		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54913107	54913107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54913107C>T	uc001sgc.4	+	15	1695	c.1616C>T	c.(1615-1617)tCt>tTt	p.S539F	NCKAP1L_uc010sox.2_Missense_Mutation_p.S81F|NCKAP1L_uc010soy.2_Missense_Mutation_p.S489F	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	539					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCTGATCTGTCTACTTTCTGG	0.383000														98			35		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188077	7188077	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7188077C>T	uc010sfy.2	-	8	1702	c.1643G>A	c.(1642-1644)gGa>gAa	p.G548E		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	626	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	CCTATTCTTTCCCCGGAGCCA	0.542000														26			12		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024398	76024398	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:76024398G>A	uc010kbe.3	-	5	1689	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	FILIP1_uc003phy.1_Nonsense_Mutation_p.R384*|FILIP1_uc003phz.3_Nonsense_Mutation_p.R285*|FILIP1_uc003pia.3_Nonsense_Mutation_p.R384*|FILIP1_uc003pib.1_Nonsense_Mutation_p.R136*	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	384										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACACGCTTTCGAAGATTTTCC	0.418000														156			13		0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187618	123187618	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:123187618C>T	uc001ucx.1	-	0	287	c.213G>A	c.(211-213)gtG>gtA	p.V71V	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	71					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	GAAAGTCAGCCACTGCCAGGT	0.527000														41			21		0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567374	223567374	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:223567374C>T	uc001hoa.2	+	0	660	c.557C>T	c.(556-558)tCc>tTc	p.S186F		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	186										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TGGTCCCCTTCCTCAGTTCCC	0.607000														53			29		0	0	1	0	0
LCN9	392399	broad.mit.edu	37	9	138557709	138557709	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:138557709C>T	uc004cgk.1	+	5	478	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	Homo sapiens lipocalin 9 (LCN9), mRNA.	160						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		CCTTCCAGATCCCTGCTACTC	0.692000														19			6		0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2592604	2592604	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:2592604G>A	uc001lwn.3	+	3	762	c.654G>A	c.(652-654)aaG>aaA	p.K218K	KCNQ1_uc009ydp.1_Intron|KCNQ1_uc001lwo.3_Silent_p.K91K	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	218					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TGGGCTCCAAGGGGCAGGTGT	0.682000														60			24		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856251	54856251	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:54856251C>T	uc002rxu.3	+	13	2229	c.1980C>T	c.(1978-1980)atC>atT	p.I660I	SPTBN1_uc002rxv.1_Silent_p.I660I|SPTBN1_uc002rxx.3_Silent_p.I647I	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	660					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGGAGAAGATCCTGTCCTCGG	0.627000														87			37		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135587422	135587422	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:135587422C>T	uc003lbn.2	-	5	1716	c.1494G>A	c.(1492-1494)gaG>gaA	p.E498E	TRPC7_uc010jef.2_Silent_p.E434E|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.E49E|TRPC7_uc010jeh.2_Silent_p.E437E|TRPC7_uc010jei.2_Silent_p.E382E	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	498					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACAGCTGTGCCTCCGTGGCCT	0.582000														23			9		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41979410	41979410	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:41979410C>T	uc001cgz.4	-	7	6695	c.5482G>A	c.(5482-5484)Gac>Aac	p.D1828N	HIVEP3_uc001cha.4_Missense_Mutation_p.D1828N|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1828	Acidic 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGAACAGGTCGTCACTGGTT	0.597000														33			9		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50090851	50090851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:50090851C>T	uc003jon.4	+	12	1210	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	PARP8_uc011cpz.2_Missense_Mutation_p.S235F|PARP8_uc003joo.3_Missense_Mutation_p.S343F|PARP8_uc003jop.3_Missense_Mutation_p.S343F	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	343						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTTGGCCGCTCCTTGTCCAGC	0.517000														85			29		0	0	1	0	0
INHBE	83729	broad.mit.edu	37	12	57849343	57849343	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57849343C>T	uc001snw.3	+	0	248	c.24C>T	c.(22-24)ctC>ctT	p.L8L		NM_031479	NP_113667	P58166	INHBE_HUMAN	Homo sapiens inhibin, beta E (INHBE), mRNA.	8					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						ATGTCCAGCTCTGGCTGGTGC	0.632000														37			7		0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465472	24465472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:24465472C>T	uc010tcw.2	-	2	978	c.958G>A	c.(958-960)Gat>Aat	p.D320N	MIPEP_uc001uox.4_5'Flank|C1QTNF9B-AS1_uc001uoy.3_Intron|C1QTNF9B-AS1_uc009zzx.3_Intron|C1QTNF9B_uc010tcv.1_3'UTR|C1QTNF9B_uc001uoz.1_3'UTR|C1QTNF9B_uc010tcx.2_Missense_Mutation_p.D320N	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	320	C1q.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GTTGTGTCATCGTCCTCATCA	0.517000														96			26		0	0	1	0	0
TAGLN2	8407	broad.mit.edu	37	1	159890198	159890198	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159890198G>A	uc001fun.1	-	1	175	c.102C>T	c.(100-102)atC>atT	p.I34I	TAGLN2_uc010piy.1_Silent_p.I34I	NM_003564	NP_003555	P37802	TAGL2_HUMAN	Homo sapiens transgelin 2 (TAGLN2), mRNA.	34	CH.				muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTGGGTGGTGATCCACTGGA	0.602000														78			26		0	0	1	0	0
CLEC2B	9976	broad.mit.edu	37	12	10010183	10010183	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10010183G>A	uc001qwn.3	-	2	784	c.127C>T	c.(127-129)Caa>Taa	p.Q43*		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	Homo sapiens C-type lectin domain family 2, member B (CLEC2B), mRNA.	43	C-type lectin.					integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						CATTTGTTTTGGAAACCAATC	0.318000														34			9		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21954063	21954063	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21954063C>T	uc001rfh.3	-	37	4585	c.4565G>A	c.(4564-4566)gGa>gAa	p.G1522E		NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1522	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.G1522E(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAAAATATTTCCTCGCTTCAT	0.408000														70			8		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536496	90536496	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90536496G>A	uc010mqi.3	+	3	1703	c.1674G>A	c.(1672-1674)agG>agA	p.R558R	FAM75C1_uc004apq.4_Silent_p.R541R	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GGAACCTGAGGAAGCCCTTGA	0.502000														117			33		0	0	1	0	0
FAM71D	161142	broad.mit.edu	37	14	67671359	67671359	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:67671359C>T	uc001xja.2	+	4	755	c.465C>T	c.(463-465)acC>acT	p.T155T	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	155										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)		AGCTCTGCACCTCTGCATATA	0.478000														35			15		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506690	11506690	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:11506690C>T	uc001qzw.1	-	2	384	c.347G>A	c.(346-348)gGa>gAa	p.G116E	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	116	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGAGG	0.612000														665			33		0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122795646	122795646	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:122795646G>A	uc001pym.3	+	3	1203	c.906G>A	c.(904-906)caG>caA	p.Q302Q		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	302										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CGTCTATTCAGAATGCCAAGG	0.408000														92			18		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526958	23526958	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:23526958G>A	uc003jgo.3	+	10	1943	c.1761G>A	c.(1759-1761)cgG>cgA	p.R587R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	587					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R587R(1)|p.G586G(1)|p.R587W(1)		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						AGTGTGGGCGGGGCTTTAGCT	0.607000										HNSCC(3;0.000094)				87			25		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976675	38976675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38976675G>A	uc002oit.3	+	33	5510	c.5380G>A	c.(5380-5382)Gcc>Acc	p.A1794T	RYR1_uc002oiu.3_Missense_Mutation_p.A1794T	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1794	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCAGCAGAGGCCCCGGCCCG	0.716000														40			17		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754413	76754413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:76754413G>A	uc002lmt.3	+	1	2422	c.2422G>A	c.(2422-2424)Gac>Aac	p.D808N	SALL3_uc010dra.3_Missense_Mutation_p.D415N	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	808				D -> N (in Ref. 2; CAB65124).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CATGGAGGACGACGCTGAGCT	0.652000														34			12		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876418	35876418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35876418C>T	uc003jjs.3	+	7	1299	c.1210C>T	c.(1210-1212)Ctc>Ttc	p.L404F	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	404					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GTACCAGGACCTCCTGCTTAG	0.552000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							43			15		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101776985	101776985	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:101776985C>T	uc001vox.1	-	17	2355	c.2166G>A	c.(2164-2166)aaG>aaA	p.K722K		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	722						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGCGGTCTCCTTTTCCAGAA	0.323000														109			57		0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72159743	72159743	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:72159743G>A	uc011kej.2	-	12	1596	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	TYW1B_uc011keh.1_Silent_p.I317I|TYW1B_uc011kei.2_Silent_p.I106I	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	480					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GTGGGCGGTCGATTTTCTTCA	0.388000														81			27		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435835	158435835	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158435835C>T	uc010pij.2	+	0	484	c.484C>T	c.(484-486)Cta>Tta	p.L162L		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CACCACCTCCCTAGTATTTCA	0.557000														199			75		0	0	1	0	0
PPP1R36	145376	broad.mit.edu	37	14	65055925	65055925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:65055925C>T	uc001xhl.1	+	11	1234	c.1138C>T	c.(1138-1140)Ctt>Ttt	p.L380F	PPP1R36_uc001xhm.1_Missense_Mutation_p.L110F	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	380																	GCTTCACCCCCTTGATCCAGA	0.428000														77			21		0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43866259	43866259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43866259G>A	uc002owi.3	+	9	1140	c.1098G>A	c.(1096-1098)atG>atA	p.M366I	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	367	UPAR/Ly6 2.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CCACCAAAATGAGCATTCAGG	0.557000														88			7		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427635	119427635	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:119427635G>A	uc001ehl.1	-	7	1526	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F	TBX15_uc009whj.1_Missense_Mutation_p.S228F	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	510						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GTTGTGAAGGGAGAAGGCATT	0.527000														35			20		0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46414494	46414494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46414494C>T	uc003cpo.4	+	2	223	c.101C>T	c.(100-102)cCt>cTt	p.P34L	CCR5_uc010hjd.3_Missense_Mutation_p.P34L|CCR5_uc021wxb.1_Missense_Mutation_p.P34L	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	34			P -> L (in TZCCR5-179).		cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	CGCCTCCTGCCTCCGCTCTAC	0.453000														144			48		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21419872	21419872	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:21419872G>A	uc002kuq.3	+	26	3401	c.3315G>A	c.(3313-3315)ggG>ggA	p.G1105G	LAMA3_uc002kur.3_Silent_p.G1105G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1105	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTTCCTGGGGTCACCTTGA	0.488000														68			29		0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89790008	89790008	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89790008C>T	uc002fos.4	+	3	994	c.897C>T	c.(895-897)acC>acT	p.T299T	C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.3_Missense_Mutation_p.P96L|ZNF276_uc002foq.4_Silent_p.T224T|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_Missense_Mutation_p.P96L|ZNF276_uc010cis.3_Silent_p.T58T|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_Silent_p.T137T|ZNF276_uc010cit.2_Silent_p.T58T	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGGCTGAGACCAAGACCCTGC	0.697000														38			17		0	0	1	0	0
CRYAA	1409	broad.mit.edu	37	21	44590729	44590729	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:44590729G>A	uc002zdd.1	+	1	361	c.292G>A	c.(292-294)Gga>Aga	p.G98R		NM_000394	NP_000385	P02489	CRYAA_HUMAN	Homo sapiens crystallin, alpha A (CRYAA), mRNA.	98					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GGAGATCCACGGAAAGCACAA	0.642000														53			13		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154862651	154862651	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:154862651C>T	uc003wlu.1	+	0	106	c.42C>T	c.(40-42)acC>acT	p.T14T	LOC100128264_uc003wlt.2_Intron|LOC100128264_uc011kvt.1_Intron	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	14						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CCCTCTCCACCCCCTCCCCTT	0.587000														131			49		0	0	1	0	0
C15orf53	400359	broad.mit.edu	37	15	38990420	38990420	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:38990420G>A	uc001zkf.1	+	1	224	c.214G>A	c.(214-216)Gat>Aat	p.D72N		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	Homo sapiens chromosome 15 open reading frame 53 (C15orf53), mRNA.	72										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		tctgggAGAAGATGCTTCCCT	0.498000														42			21		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193831	152193831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152193831C>T	uc001ezt.1	-	2	350	c.274G>A	c.(274-276)Gat>Aat	p.D92N		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	92					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCAGTAATCTTTGCCAATG	0.413000														64			23		0	0	1	0	0
FBXL21	26223	broad.mit.edu	37	5	135273183	135273183	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:135273183C>T	uc021ydv.1	+	5		c.918C>T			FBXL21_uc003lbc.3_Non-coding_Transcript|FBXL21_uc021ydw.1_Non-coding_Transcript|FBXL21_uc021ydx.1_Non-coding_Transcript	NM_012159		Q9UKT6	FXL21_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA.						rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			large_intestine(5)|lung(4)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGTTCCATCCAGACCTTGGG	0.413000														73			21		0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629337	9629337	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:9629337G>A	uc003jem.1	-	0	1127	c.808C>T	c.(808-810)Cct>Tct	p.P270S		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	270					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TGTCCAGAAGGGTATATACCA	0.373000														96			34		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399221	179399221	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179399221C>T	uc021vsy.1	-	306	94642	c.94417G>A	c.(94417-94419)Gag>Aag	p.E31473K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25168K|TTN_uc021vta.1_Missense_Mutation_p.E25101K|TTN_uc021vtb.1_Missense_Mutation_p.E24976K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32400	Ig-like 140.						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)			ATGCTAATCTCTTTGAATGCT	0.428000														79			36		0	0	1	0	0
ZNF414	84330	broad.mit.edu	37	19	8576620	8576620	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8576620G>A	uc002mke.4	-	4	873	c.755C>T	c.(754-756)cCg>cTg	p.P252L	ZNF414_uc010dwf.3_Missense_Mutation_p.P241L|ZNF414_uc002mkf.3_Missense_Mutation_p.P252L	NM_001146175	NP_001139647	Q96IQ9	ZN414_HUMAN	Homo sapiens zinc finger protein 414 (ZNF414), transcript variant 1, mRNA.	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						GGGCAGGAACGGTCCGGTGGG	0.766000														4			3		0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109511303	109511303	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:109511303C>T	uc010sxi.2	+	6	790	c.686C>T	c.(685-687)aCt>aTt	p.T229I	USP30_uc001tnu.4_Missense_Mutation_p.T198I	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	229					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						GGAAGACTCACTAGTAATATG	0.403000														54			13		0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	959657	959657	+	Silent	SNP	C	T	T	rs149827249		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:959657C>T	uc003sjo.4	-	3	529	c.336G>A	c.(334-336)aaG>aaA	p.K112K	ADAP1_uc011jvs.2_Silent_p.K17K|ADAP1_uc003sjn.4_Silent_p.K40K|ADAP1_uc010ksc.3_Silent_p.K40K	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	112	Arf-GAP.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GTCGCTCGTACTTGGCCCGGA	0.682000														27			9		0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4222756	4222756	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4222756C>T	uc010dtt.1	+	19	3537	c.3261C>T	c.(3259-3261)ctC>ctT	p.L1087L		NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	1087										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TGGAGGCTCTCCGTGACCAGG	0.572000														18			8		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45946460	45946460	+	Silent	SNP	C	T	T	rs138534271	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:45946460C>T	uc010gzz.3	+	14	1923	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	FBLN1_uc003bgg.1_Silent_p.F554F|FBLN1_uc003bgh.3_Silent_p.F554F|FBLN1_uc003bgi.1_Silent_p.F554F|FBLN1_uc003bgj.1_Silent_p.F554F	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	554					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCCTGGCCTTCGAGTGCCCTG	0.592000														80			12		0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137802597	137802597	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:137802597C>T	uc003ldb.1	+	1	729	c.459C>T	c.(457-459)ccC>ccT	p.P153P		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	153					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGCCCGAGCCCCTCTTCAGCT	0.637000														131			45		0	0	1	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273370	26273370	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:26273370C>T	uc003nhk.3	+	0	167	c.167C>T	c.(166-168)tCg>tTg	p.S56L	HIST1H3G_uc003nhi.3_5'Flank	NM_003525	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bi (HIST1H2BI), mRNA.	56					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						ACCGGCATCTCGTCCAAGGCT	0.567000														261			104		0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115607039	115607039	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115607039G>A	uc001law.2	-	2	3099	c.2181C>T	c.(2179-2181)gcC>gcT	p.A727A		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.	727					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGAGAAAATAGGCTGTGCAAC	0.383000								Other identified genes with known or suspected DNA repair function						42			17		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345431	33345431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33345431G>A	uc002xav.3	-	7	3691	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S	NCOA6_uc002xaw.3_Missense_Mutation_p.P374S|NCOA6_uc021wcd.1_Missense_Mutation_p.P374S|NCOA6_uc021wce.1_Missense_Mutation_p.P374S|NCOA6_uc021wcf.1_Missense_Mutation_p.P374S|NCOA6_uc010gew.1_Missense_Mutation_p.P331S	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	374	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|Poly-Pro.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGATATGGAGGGGGAGGGTGG	0.562000														90			54		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56342232	56342232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56342232C>T	uc002ivt.3	+	9	1732	c.1416C>T	c.(1414-1416)ccC>ccT	p.P472P	LPO_uc010wns.2_Silent_p.P413P|LPO_uc010dcp.3_Silent_p.P389P|LPO_uc010dcq.3_Silent_p.P143P|LPO_uc010dcr.3_Silent_p.P35P	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	472					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGGAGGTCCCCTCTAGTATGT	0.517000														59			28		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216595578	216595578	+	Missense_Mutation	SNP	C	T	T	rs141672841	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:216595578C>T	uc001hku.1	-	1	488	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	USH2A_uc001hkv.3_Missense_Mutation_p.R34Q	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	34					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)		GAAAAGACCTCGTGACTCAGT	0.453000										HNSCC(13;0.011)				73			30		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159514632	159514632	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:159514632G>A	uc003ipz.3	+	2	530	c.267G>A	c.(265-267)gaG>gaA	p.E89E	RXFP1_uc010iqj.2_5'UTR|RXFP1_uc010iqk.3_5'UTR|RXFP1_uc011cja.2_Silent_p.E8E|RXFP1_uc010iqo.3_Silent_p.E89E|RXFP1_uc011cjb.2_Silent_p.E8E|RXFP1_uc011cjc.2_Silent_p.E8E|RXFP1_uc011cjd.2_Silent_p.E8E|RXFP1_uc010iql.3_5'UTR|RXFP1_uc011cje.2_Silent_p.E89E|RXFP1_uc010iqm.3_Intron|RXFP1_uc011cjf.2_Intron|RXFP1_uc010iqn.3_Silent_p.E8E	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	89						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATCCTTTTGAGGCAGAAACAC	0.313000														47			5		0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77896092	77896092	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:77896092C>T	uc002lnw.3	+	3	3251	c.2796C>T	c.(2794-2796)gcC>gcT	p.A932A		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	932					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTGCCATCGCCGTCCATTTGG	0.562000														145			8		0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93588319	93588319	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:93588319G>A	uc010urc.2	-	3	1517	c.1286C>T	c.(1285-1287)cCa>cTa	p.P429L	RGMA_uc002bsq.2_Missense_Mutation_p.P405L|RGMA_uc021svs.1_Missense_Mutation_p.P405L|RGMA_uc021svt.1_Missense_Mutation_p.P405L|RGMA_uc010boi.2_Missense_Mutation_p.P312L|RGMA_uc002bsr.2_Missense_Mutation_p.P312L|RGMA_uc021svu.1_Missense_Mutation_p.P405L|RGMA_uc002bss.2_Missense_Mutation_p.P421L	NM_001166283	NP_001159761	Q96B86	RGMA_HUMAN	Homo sapiens RGM domain family, member A (RGMA), transcript variant 1, mRNA.	421					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			CGCCCTGCCTGGCAGGTCCCG	0.647000														5			6		0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80555016	80555016	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:80555016G>A	uc003khc.4	+	8	1199	c.957G>A	c.(955-957)tcG>tcA	p.S319S	RNU5E-1_uc011cto.1_Intron|CKMT2_uc010jaq.3_Silent_p.S319S|CKMT2_uc003khd.4_Silent_p.S319S|LOC100131067_uc003khe.2_Intron|LOC100131067_uc003khf.2_Intron|LOC100131067_uc003khg.2_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric) (CKMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	319	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CCTGTCCTTCGAACCTTGGAA	0.512000														142			12		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121430236	121430236	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121430236C>T	uc001pxx.3	+	20	3048	c.2919C>T	c.(2917-2919)atC>atT	p.I973I		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	973					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGAATGAAATCTACTGGGATG	0.478000														81			25		0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71940997	71940997	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:71940997C>T	uc001osf.3	+	7	1020	c.873C>T	c.(871-873)tcC>tcT	p.S291S	INPPL1_uc001osg.3_Silent_p.S49S	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	291					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACATGAGCTCCACAGCACCCC	0.642000														55			9		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193081	132193081	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:132193081C>T	uc003vra.4	-	1	601	c.372G>A	c.(370-372)gaG>gaA	p.E124E	PLXNA4_uc003vrc.2_Silent_p.E124E|PLXNA4_uc003vrb.3_Silent_p.E124E	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	124	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCAGCCTGTTCTCCTTGTAGT	0.547000														54			16		0	0	1	0	0
FGF21	26291	broad.mit.edu	37	19	49261325	49261325	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49261325G>A	uc002pkn.1	+	3	1050	c.478G>A	c.(478-480)Gga>Aga	p.G160R	FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Missense_Mutation_p.G160R	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.	160					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)		TGCACCCCGAGGACCAGCTCG	0.687000														48			10		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515777	47515777	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47515777C>T	uc001cqt.3	+	11	1711	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	CYP4X1_uc001cqr.3_Silent_p.F486F|CYP4X1_uc001cqs.3_Silent_p.F422F	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	487						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CTCTTACTTTCCCCAACCATT	0.448000														127			43		0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43625229	43625229	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:43625229G>A	uc011lrb.2	-	3	3487	c.3458C>T	c.(3457-3459)cCt>cTt	p.P1153L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	1153						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						TACTGAAGGAGGCTGTTTCTT	0.453000														114			13		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121282323	121282323	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:121282323G>A	uc003yox.3	+	25	3388	c.3123G>A	c.(3121-3123)tgG>tgA	p.W1041*	COL14A1_uc003yoz.3_Nonsense_Mutation_p.W6*	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1041	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.S1040F(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATGGATCCTGGAGCATTGGAG	0.428000														89			8		0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134256003	134256003	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:134256003C>T	uc003eqo.1	+	6	897	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C	CEP63_uc003eql.1_Missense_Mutation_p.R150C|CEP63_uc003eqm.3_Missense_Mutation_p.R150C|CEP63_uc003eqn.1_Missense_Mutation_p.R150C	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	150					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCAGGAATTCCGTCAGAAATC	0.458000														84			19		0	0	1	0	0
MEX3B	84206	broad.mit.edu	37	15	82335978	82335978	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:82335978G>A	uc002bgq.1	-	1	1548	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	Homo sapiens mex-3 homolog B (C. elegans) (MEX3B), mRNA.	411					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	RNA binding|calcium ion binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CACCCCCGGGGAAGACCACGg	0.672000														23			10		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173332	51173332	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:51173332C>T	uc021tif.1	-	1	2832	c.2510G>A	c.(2509-2511)aGc>aAc	p.S837N	SALL1_uc021tid.1_Missense_Mutation_p.S837N|SALL1_uc021tie.1_Missense_Mutation_p.S934N|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	934					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTCCTGCGTGCTGTTGGACGG	0.557000														65			9		0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49359997	49359997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49359997G>A	uc001rss.3	-	4	1495	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C	WNT10B_uc001rst.3_3'UTR	NM_003394	NP_003385	O00744	WN10B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA.	351					Wnt receptor signaling pathway, calcium modulating pathway|axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						TTGTGCCCACGGCCACAGCAC	0.627000														59			5		0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428804	120428804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:120428804C>T	uc003vjk.3	-	7	1134	c.760G>A	c.(760-762)Gag>Aag	p.E254K	TSPAN12_uc010lkj.3_Missense_Mutation_p.E127K	NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	254					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					GTCCCCGGCTCCCTTCTATCA	0.483000														81			29		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067176	11067176	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:11067176C>T	uc010hdq.3	+	7	1167	c.756C>T	c.(754-756)atC>atT	p.I252I		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	252					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TCATGCTGATCATCCTGTTCT	0.572000														35			22		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095870	167095870	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167095870G>A	uc001geb.1	+	4	1518	c.1502G>A	c.(1501-1503)aGa>aAa	p.R501K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	501					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAGAGCAAGAGAGAGGAGGCG	0.607000														40			19		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202710505	202710505	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:202710505G>T	uc009xag.3	-	19	3159	c.3043C>A	c.(3043-3045)Ctc>Atc	p.L1015I	KDM5B_uc001gyf.3_Missense_Mutation_p.L979I|KDM5B_uc001gyg.1_Missense_Mutation_p.L821I	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	979					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTGGCCTTGAGGAGACTCTTG	0.522000														47			17		9.16793e-09	9.19645e-09	1	1	0
OR51A2	401667	broad.mit.edu	37	11	4976592	4976592	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4976592G>A	uc010qyt.2	-	0	352	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)		GACATGATCAGGAGGACTGAG	0.448000														25			23		0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43621793	43621793	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43621793G>A	uc002zan.3	+	1	268	c.8G>A	c.(7-9)gGa>gAa	p.G3E	ABCG1_uc002zam.3_5'UTR	NM_207627	NP_997511	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 5, mRNA.	0					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	ttgatgctgggaacgcagggg	0.542000														37			4		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369416	56369416	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56369416C>T	uc002qmd.4	+	2	1079	c.657C>T	c.(655-657)atC>atT	p.I219I	NLRP4_uc002qmf.3_Silent_p.I144I|NLRP4_uc010etf.3_Silent_p.I50I	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	219	NACHT.						ATP binding	p.I219I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TAACAGAGATCGTGTCTCAAC	0.537000														84			38		0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100155362	100155362	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:100155362C>T	uc001dsg.3	+	6	1989	c.1546C>T	c.(1546-1548)Cct>Tct	p.P516S		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	516					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CTTAGGCAGCCCTGTCCACCA	0.428000														68			25		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42344708	42344708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42344708G>A	uc002xlb.1	+	13	2299	c.2084G>A	c.(2083-2085)cGg>cAg	p.R695Q	MYBL2_uc010zwj.1_Missense_Mutation_p.R671Q	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	695						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CACACATCTCGGACCCTCATC	0.607000														210			54		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394822	86394822	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:86394822G>A	uc003uid.3	+	1	1460	c.361G>A	c.(361-363)Gat>Aat	p.D121N	GRM3_uc010lef.3_Missense_Mutation_p.D119N|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	121					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)	GACAAAAGTGGATGAAGCTGA	0.438000														146			46		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784541	9784541	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:9784541G>A	uc003gmb.4	+	0	1284	c.888G>A	c.(886-888)aaG>aaA	p.K296K		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	296					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AGGTTCTCAAGACCCTGTCGG	0.627000														99			11		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51900434	51900434	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:51900434G>A	uc003pah.1	-	27	3459	c.3183C>T	c.(3181-3183)gtC>gtT	p.V1061V	PKHD1_uc003pai.3_Silent_p.V1061V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1061	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGCTTGTAGCGACATTGATGG	0.453000														117			30		0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149905338	149905338	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:149905338G>A	uc001etl.4	-	9	1197	c.946C>T	c.(946-948)Caa>Taa	p.Q316*	MTMR11_uc001etm.2_Nonsense_Mutation_p.Q244*|MTMR11_uc010pbm.1_Nonsense_Mutation_p.Q288*|MTMR11_uc010pbn.1_Nonsense_Mutation_p.Q158*	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	316	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TGGGCAAGTTGGACATCTGCA	0.582000														93			40		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201460056	201460056	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:201460056G>A	uc002uvx.3	+	2	266	c.165G>A	c.(163-165)atG>atA	p.M55I		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	55	2Fe-2S ferredoxin-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTACAGTGATGATATCACGAT	0.398000														31			14		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101739389	101739389	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:101739389C>T	uc001tia.1	+	36	4819	c.4663C>T	c.(4663-4665)Caa>Taa	p.Q1555*		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1555					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CTTTCCAAACCAACTGGAATT	0.338000														64			22		0	0	1	0	0
NXPH4	11247	broad.mit.edu	37	12	57619443	57619443	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57619443C>T	uc010srf.2	+	1	1015	c.840C>T	c.(838-840)ttC>ttT	p.F280F	NXPH4_uc009zpj.3_Silent_p.F86F	NM_007224	NP_009155	O95158	NXPH4_HUMAN	Homo sapiens neurexophilin 4 (NXPH4), mRNA.	280	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TCTGTATCTTCGTCTCTTTCC	0.577000														69			17		0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55653197	55653197	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55653197A>T	uc010rip.2	+	1	385	c.293A>T	c.(292-294)gAg>gTg	p.E98V	TRIM51_uc010riq.2_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	98						intracellular	zinc ion binding										ATGCACAGAGAGACAAAGAAG	0.483000														33			10		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72198665	72198665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:72198665G>A	uc002fcc.4	-	2	335	c.163C>T	c.(163-165)Cac>Tac	p.H55Y	PMFBP1_uc002fcd.3_Missense_Mutation_p.H55Y|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_5'UTR	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	55										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TCCCTTACGTGGCTGCTGTTC	0.522000														89			9		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139741513	139741513	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:139741513G>A	uc003vvl.1	-	5	1987	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	371	WWE 2.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TGGTGAGGATGAAGTGTGGAG	0.498000														199			42		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4853129	4853129	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:4853129G>A	uc003bqc.3	+	54	7758	c.7408G>A	c.(7408-7410)Gaa>Aaa	p.E2470K	ITPR1_uc021wsi.1_Missense_Mutation_p.E2437K|ITPR1_uc021wsj.1_Missense_Mutation_p.E2422K|ITPR1_uc011asu.2_Missense_Mutation_p.E448K|ITPR1_uc010hcc.2_Missense_Mutation_p.E205K|ITPR1_uc011asv.2_Missense_Mutation_p.E161K	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2485					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCTGCCCAATGAAACAGCTGT	0.383000														81			27		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975411	20975411	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20975411G>A	uc010vbe.2	-	52	9795	c.9795C>T	c.(9793-9795)tcC>tcT	p.S3265S	DNAH3_uc010vbd.2_Silent_p.S700S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3265	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S3265F(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCACTTTGGAGGAGGACAGAA	0.468000														135			43		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75065478	75065478	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75065478C>T	uc001dgg.3	-	10	1846	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E337K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	543	Glu-rich.									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						GTTTCACTCTCTTTTTCAGGG	0.408000														225			53		0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	99039822	99039822	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:99039822C>T	uc003yic.3	+	13	2352	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	MATN2_uc010mbh.1_Silent_p.F666F|MATN2_uc003yid.3_Silent_p.F707F|MATN2_uc003yie.1_Silent_p.F707F|MATN2_uc010mbi.1_Silent_p.F540F|RPL30_uc010mbk.2_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	707	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ACACAGAGTTCACTCTGAGAA	0.488000														51			10		0	0	1	0	0
STL	7955	broad.mit.edu	37	6	125233416	125233416	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:125233416C>T	uc003pzq.3	-	6		c.1318G>A								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		TCCTGCAATTCCAGTCAATTT	0.393000			T	ETV6	B-ALL									50			7		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23224167	23224167	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23224167G>T	uc002dlm.1	+	9	1522	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	461				EWT -> DGH (in Ref. 5; AAC50758).	excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GCTTTAAAGAGTGGACACTAA	0.592000														72			10		1.58986e-06	1.59318e-06	1	1	0
PLEC	5339	broad.mit.edu	37	8	145001728	145001728	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145001728G>A	uc003zaf.1	-	26	4187	c.4017C>T	c.(4015-4017)ctC>ctT	p.L1339L	PLEC_uc003zab.1_Silent_p.L1202L|PLEC_uc003zac.1_Silent_p.L1206L|PLEC_uc003zad.2_Silent_p.L1202L|PLEC_uc003zae.1_Silent_p.L1170L|PLEC_uc003zag.1_Silent_p.L1180L|PLEC_uc003zah.2_Silent_p.L1188L|PLEC_uc003zaj.2_Silent_p.L1229L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1339	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCAGTTGCTCGAGCTCGCGCT	0.716000														10			3		0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6309787	6309787	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6309787G>A	uc002mel.2	-	3	487	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	137						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GTGGGCCGCAGGAAGGACAGA	0.607000														63			13		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27699589	27699589	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27699589G>A	uc002rku.3	-	13	1381	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	IFT172_uc002rkv.3_Missense_Mutation_p.R418C|IFT172_uc010yls.2_Missense_Mutation_p.R423C|IFT172_uc010ezc.3_Missense_Mutation_p.R444C	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	444					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCATTAATACGAACACTGAAA	0.373000														63			29		0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156518469	156518469	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:156518469G>A	uc010lqn.3	-	13	1394	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	LMBR1_uc003wmv.4_Silent_p.I200I|LMBR1_uc003wmw.4_Silent_p.I352I|LMBR1_uc003wmx.4_Silent_p.I200I|LMBR1_uc011kvx.2_Silent_p.I331I	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	352						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		AAATCAAAATGATTTCAAGCG	0.403000														53			24		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34087766	34087766	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34087766C>T	uc001bxm.1	-	37	6004	c.5827_splice	c.e37+1	p.T1943_splice	CSMD2_uc001bxn.1_Splice_Site_p.T1903_splice|CSMD2_uc001bxo.1_Splice_Site_p.T816_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1903	Sushi 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGATTCTCACTTTTGTACTC	0.507000														153			76		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307697	46307697	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46307697G>A	uc002pdm.3	-	2	1637	c.1466C>T	c.(1465-1467)tCg>tTg	p.S489L	RSPH6A_uc002pdl.3_Missense_Mutation_p.S225L	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	489						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CGTGGCGGCCGAGATGCGGGC	0.642000														52			23		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152382554	152382554	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152382554C>T	uc001ezx.2	-	2	1078	c.1004G>A	c.(1003-1005)aGg>aAg	p.R335K		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	335	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	p.G334D(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTCTGGCTCCTGCCTTGACC	0.592000														190			74		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72667227	72667227	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:72667227G>A	uc001sxa.3	+	0	699	c.669G>A	c.(667-669)agG>agA	p.R223R	LOC283392_uc010stv.2_5'UTR|LOC283392_uc021rat.1_5'Flank	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	223					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						TGCTGAATAGGACACTGGACG	0.557000														84			17		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238045810	238045810	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:238045810A>T	uc001hym.3	-	11	1822	c.1535T>A	c.(1534-1536)cTt>cAt	p.L512H	LOC100130331_uc010pyc.2_Non-coding_Transcript	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	512					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)			GGTCCCAGAAAGGCCTGCCAC	0.453000														116			48		0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27289779	27289779	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:27289779C>T	uc003xfn.2	+	14	1696	c.888C>T	c.(886-888)ccC>ccT	p.P296P	PTK2B_uc022ate.1_Silent_p.P296P|PTK2B_uc003xfp.2_Silent_p.P296P|PTK2B_uc003xfq.2_Silent_p.P296P|PTK2B_uc010luq.1_Silent_p.P67P|PTK2B_uc003xfr.1_Silent_p.P42P	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	296	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCCCACAGCCCACCTGCCTGG	0.622000														23			8		0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5344754	5344754	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5344754G>A	uc001mao.1	-	0	829	c.774C>T	c.(772-774)ttC>ttT	p.F258F	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.	258					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)		ATCTGTAAATGAATGTCAAAC	0.413000														90			19		0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138252230	138252230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:138252230C>T	uc003vuc.3	+	9	1750	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L	TRIM24_uc003vub.3_Missense_Mutation_p.P478L|TRIM24_uc022amn.1_Missense_Mutation_p.P436L	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	512					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TTCTAGCAACCGCCTCCACGT	0.348000														122			46		0	0	1	0	0
NREP	9315	broad.mit.edu	37	5	111066648	111066648	+	Silent	SNP	G	A	A	rs11556173		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:111066648G>A	uc011cvr.2	-	3	501	c.309C>T	c.(307-309)tcC>tcT	p.S103S	NREP_uc011cvs.2_Silent_p.S93S|LOC100505678_uc021ych.1_Intron|NREP_uc003kpk.3_Intron|NREP_uc003kpl.3_Silent_p.S59S|NREP_uc003kpm.3_Silent_p.S59S|NREP_uc011cvk.2_Silent_p.S59S|NREP_uc011cvl.2_Silent_p.S59S|NREP_uc011cvm.2_Silent_p.S59S|NREP_uc011cvn.2_Silent_p.S59S|NREP_uc011cvo.2_Silent_p.S59S|NREP_uc011cvp.2_Silent_p.S59S|NREP_uc011cvq.2_Silent_p.S59S	NM_001142475	NP_001135947	Q16612	NP311_HUMAN	Homo sapiens neuronal regeneration related protein homolog (rat) (NREP), transcript variant 3, mRNA.	59						cytoplasm											TGATTCTTGGGGAGCGGAGTT	0.463000														107			20		0	0	1	0	0
DACT3	147906	broad.mit.edu	37	19	47151774	47151774	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:47151774G>A	uc010ekq.3	-	3	1929	c.1855C>T	c.(1855-1857)Cgt>Tgt	p.R619C		NM_145056	NP_659493	Q96B18	DACT3_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis) (DACT3), mRNA.	619										lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		GAACCCGAACGGAAACGCAGT	0.577000														384			138		0	0	1	0	0
CLDN6	9074	broad.mit.edu	37	16	3065685	3065685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3065685G>A	uc021tbb.1	-	0	338	c.338C>T	c.(337-339)tCc>tTc	p.S113F	CLDN6_uc002csu.4_Missense_Mutation_p.S113F	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	113					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GCGGGCCTTGGAATCCTTCTC	0.612000														44			15		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074867	9074867	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9074867G>A	uc002mkp.3	-	2	12783	c.12579C>T	c.(12577-12579)ttC>ttT	p.F4193F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4195	Ser-rich.|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						TCTCAGACAAGAAAACTGAGG	0.507000														59			20		0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60645858	60645858	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:60645858C>T	uc021ule.1	+	16	4593	c.4348C>T	c.(4348-4350)Ccc>Tcc	p.P1450S		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	1450					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CATCTTTCCTCCCTCAGTGAA	0.627000														35			9		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166183422	166183422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166183422G>A	uc002udc.3	+	12	2367	c.2077G>A	c.(2077-2079)Gat>Aat	p.D693N	SCN2A_uc002udd.3_Missense_Mutation_p.D693N|SCN2A_uc002ude.3_Missense_Mutation_p.D693N	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	693					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D693E(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGTTTCCATGGATTTATTGGA	0.373000														136			13		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22337365	22337365	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22337365C>T	uc021rpg.1	+	1	219	c.156C>T	c.(154-156)ttC>ttT	p.F52F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 85.																		CAAACTACTTCCCTTGGTATA	0.438000														140			56		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677394	3677394	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3677394C>T	uc002wja.3	-	9	2522	c.2522G>A	c.(2521-2523)gGt>gAt	p.G841D	SIGLEC1_uc002wiz.4_Missense_Mutation_p.G841D	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	841	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						GACCTGGGGACCCAGGCTGGT	0.637000														64			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049049	9049049	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9049049G>A	uc002mkp.3	-	4	32786	c.32582C>T	c.(32581-32583)tCc>tTc	p.S10861F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10863	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						AGCTGAACTGGATTCTGCCCC	0.483000														97			37		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578277	7578277	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7578277G>A	uc002gim.2	-	5	766	c.572C>T	c.(571-573)cCt>cTt	p.P191L	TP53_uc002gig.1_Missense_Mutation_p.P191L|TP53_uc002gih.3_Missense_Mutation_p.P191L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P59L|TP53_uc010cnf.1_Missense_Mutation_p.P59L|TP53_uc002gii.1_Missense_Mutation_p.P59L|TP53_uc010cni.1_Missense_Mutation_p.P191L|TP53_uc010cnh.1_Missense_Mutation_p.P191L|TP53_uc002gij.2_Missense_Mutation_p.P191L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.P98L|TP53_uc002gio.2_Missense_Mutation_p.P59L|TP53_uc010vug.2_Missense_Mutation_p.P152L	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	191	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P190L(22)|p.P191del(14)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.P190fs*57(6)|p.?(6)|p.P190del(6)|p.P190S(6)|p.P191fs*56(4)|p.P191_E198>Q(4)|p.P191fs*53(4)|p.P191L(4)|p.P191R(4)|p.P191delP(4)|p.P190T(4)|p.P191fs*6(2)|p.A189_Q192>E(2)|p.P191fs*15(2)|p.P191H(2)|p.P191S(2)|p.G187fs*16(2)|p.P59delP(2)|p.P191_Q192delPQ(2)|p.P98delP(2)|p.D186_P191delDGLAPP(2)|p.P190A(2)|p.P190R(2)|p.L188_P191del(2)|p.P190F(2)|p.K164_P219del(1)|p.P59_E66>Q(1)|p.P191fs*57(1)|p.P191fs*18(1)|p.P191P(1)|p.P190fs*19(1)|p.P191T(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.P190H(1)|p.P190P(1)|p.A189_P190>X(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)		AAGATGCTGAGGAGGGGCCAG	0.557000		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)				22			15		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25861613	25861613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:25861613G>A	uc001isj.3	+	6	1610	c.1550G>A	c.(1549-1551)cGa>cAa	p.R517Q		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	517						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACGGCTCAACGAATTCCATAT	0.408000														143			24		0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22846811	22846811	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22846811C>T	uc002nqw.3	+	3	584	c.340C>T	c.(340-342)Caa>Taa	p.Q114*		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CAAAATATTTCAATGTGACAA	0.313000														20			8		0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100134904	100134904	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:100134904C>T	uc003huo.2	-	3	215	c.121_splice	c.e3-1	p.V41_splice	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Intron|ADH6_uc003hup.4_Splice_Site_p.V41_splice|ADH6_uc010ile.3_Splice_Site_p.V41_splice	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	41					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	GTGGCCACAACCTGTATGGAA	0.468000														48			25		0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128200709	128200709	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:128200709C>T	uc003ekm.3	-	5	1531	c.1096G>A	c.(1096-1098)Ggg>Agg	p.G366R	GATA2_uc003ekn.3_Missense_Mutation_p.G352R|GATA2_uc003eko.2_Missense_Mutation_p.G366R	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	366					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		ACAGGGTCCCCGTTGGCGTTT	0.652000			Mis		AML(CML blast transformation)									49			19		0	0	1	0	0
HMGN4	10473	broad.mit.edu	37	6	26545639	26545639	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:26545639C>T	uc003nig.3	+	1	443	c.205C>T	c.(205-207)Cct>Tct	p.P69S	HMGN4_uc021ynn.1_Missense_Mutation_p.P69S	NM_006353	NP_006344	O00479	HMGN4_HUMAN	Homo sapiens high mobility group nucleosomal binding domain 4 (HMGN4), mRNA.	69						chromatin|nucleus	DNA binding			lung(2)|skin(1)	3						TGGGAACAACCCTGCAAAAAA	0.493000														93			33		0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151545475	151545475	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151545475C>T	uc003eze.3	+	4	805	c.715C>T	c.(715-717)Cta>Tta	p.L239L		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	239					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCAAATTTTCTATTTCTATC	0.368000														71			34		0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155757560	155757560	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:155757560C>T	uc003qqm.3	-	6	893	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	264	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ACCGAGGGTTCCTTGCCAGAA	0.438000														62			32		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363473	22363473	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22363473G>A	uc002nqs.1	-	2	1364	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	349					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)				AAGGATTGAGGATCGATTAAA	0.403000														120			31		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	89156784	89156784	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:89156784G>A	uc002sti.1	-	0		c.3491C>T			abParts_uc002stj.1_Non-coding_Transcript					Homo sapiens cDNA FLJ46682 fis, clone TRACH3011082, moderately similar to Ig kappa chain V-III region HAH precursor.																		ACCGCAATAGGGGTAGGTCCC	0.522000														14			4		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301489	11301489	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:11301489C>T	uc010hdr.3	+	1	1108	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S	HRH1_uc010hds.3_Missense_Mutation_p.P256S|HRH1_uc010hdt.3_Missense_Mutation_p.P256S|HRH1_uc003bwb.4_Missense_Mutation_p.P256S|HRH1_uc021wtb.1_Missense_Mutation_p.P256S	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	256					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GAAGGAGTCTCCCTGGGAGGT	0.527000														34			20		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594625	140594625	+	Silent	SNP	C	T	T	rs150808997		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140594625C>T	uc003lja.1	+	0	1117	c.930C>T	c.(928-930)ttC>ttT	p.F310F		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	310	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.F310F(4)|p.D309N(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTCGATTTCGAAAAACTTC	0.378000														147			74		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70933760	70933760	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70933760C>T	uc001swb.4	-	21	5013	c.4983G>A	c.(4981-4983)agG>agA	p.R1661R	PTPRB_uc010sto.2_Silent_p.R1571R|PTPRB_uc010stp.2_Silent_p.R1571R|PTPRB_uc001swc.4_Silent_p.R1879R|PTPRB_uc001swa.4_Silent_p.R1791R	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1661					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1661S(3)|p.R1879S(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGGTCGATCCCTACGAATGC	0.408000														36			16		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54903535	54903535	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54903535C>T	uc001sgc.4	+	5	668	c.589C>T	c.(589-591)Cac>Tac	p.H197Y	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.H147Y	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	197					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GTTTGGGCCTCACACAAAGGC	0.488000														187			21		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136597649	136597649	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:136597649C>T	uc004cep.4	-	2	540	c.406G>A	c.(406-408)Gag>Aag	p.E136K	SARDH_uc004ceo.3_Missense_Mutation_p.E136K|SARDH_uc011mdo.2_5'UTR|SARDH_uc011mdn.2_Missense_Mutation_p.E136K	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	136					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	p.R135W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TCCTCCAGCTCCCGGCTCACC	0.672000														148			33		0	0	1	0	0
MMD	23531	broad.mit.edu	37	17	53488740	53488740	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:53488740G>A	uc002iui.3	-	2	432	c.147C>T	c.(145-147)ctC>ctT	p.L49L		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated (MMD), mRNA.	49					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						ACAGCCGATGGAGGAGGGCAC	0.438000														48			8		0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4069536	4069536	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:4069536T>G	uc003mvx.3	-	6	1327	c.921A>C	c.(919-921)agA>agC	p.R307S	FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Missense_Mutation_p.R244S	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.	307																	TCGTTTGTAGTCTTGGCCTCT	0.433000														85			40		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995791	19995791	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:19995791G>A	uc002ktv.1	-	0	2088	c.1984C>T	c.(1984-1986)Cct>Tct	p.P662S		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	662	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGAGGTGGAGGAACAAAGCCA	0.473000														233			96		0	0	1	0	0
DCAF16	54876	broad.mit.edu	37	4	17805519	17805519	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:17805519A>C	uc003gpn.3	-	2	1307	c.246T>G	c.(244-246)gaT>gaG	p.D82E	DCAF16_uc021xmp.1_Missense_Mutation_p.D82E	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 16 (DCAF16), mRNA.	82						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GTGTGCTTGGATCCAACAGTT	0.438000														112			19		0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40773888	40773888	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:40773888C>T	uc001cfh.1	-	16	988	c.876G>A	c.(874-876)ggG>ggA	p.G292G	COL9A2_uc001cfi.1_Silent_p.G111G	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	292	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGCCTGTGATCCCCTGGGGTC	0.627000														26			13		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13870966	13870966	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13870966C>T	uc003jfd.2	-	23	3786	c.3744G>A	c.(3742-3744)aaG>aaA	p.K1248K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1248	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)					CATCTAGGTCCTTAATTGGAC	0.373000									Kartagener syndrome					73			21		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42379884	42379884	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42379884G>A	uc001zox.3	-	1	155	c.60C>T	c.(58-60)acC>acT	p.T20T		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	20	C2.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GCTGCCAGCAGGTAGAGGCCT	0.637000														40			12		0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71610209	71610209	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71610209C>T	uc002fap.2	-	1	209	c.110G>A	c.(109-111)aGa>aAa	p.R37K	TAT_uc002faq.3_Missense_Mutation_p.R37K|TAT_uc002far.3_Missense_Mutation_p.R37K	NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	37					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CCTGGCCTTTCTGCCTTTCAT	0.502000														55			23		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139756733	139756733	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:139756733C>T	uc003vvl.1	-	2	1557	c.683G>A	c.(682-684)aGa>aAa	p.R228K	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	228						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ATGTGCATTTCTATAAATGGT	0.473000														126			33		0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47363609	47363609	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:47363609C>T	uc021qis.1	-	17	1778	c.1723G>A	c.(1723-1725)Ggt>Agt	p.G575S	MYBPC3_uc021qir.1_Missense_Mutation_p.G227S|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	574	Ig-like C2-type 4.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	p.R574R(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		AGCCACACACCCCGAACATTC	0.577000														15			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075383	9075383	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9075383G>A	uc002mkp.3	-	2	12267	c.12063C>T	c.(12061-12063)agC>agT	p.S4021S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4023	Ser-rich.|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						CCATGTAAGGGCTGACGTCCC	0.463000														70			21		0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42747236	42747236	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42747236C>T	uc002xli.1	-	2	2070	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	399	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTTCCGCTGCCTCAGCTTTGG	0.607000														126			56		0	0	1	0	0
MTHFSD	64779	broad.mit.edu	37	16	86575416	86575416	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:86575416G>A	uc002fjn.3	-	6	619	c.568C>T	c.(568-570)Cct>Tct	p.P190S	MTHFSD_uc002fjm.3_Missense_Mutation_p.P189S|MTHFSD_uc010voo.2_Missense_Mutation_p.P170S|MTHFSD_uc010vop.2_Missense_Mutation_p.P27S|MTHFSD_uc010voq.2_Missense_Mutation_p.P189S|MTHFSD_uc010vor.2_Missense_Mutation_p.P190S|MTHFSD_uc002fjo.3_Missense_Mutation_p.P27S|MTHFSD_uc002fjp.2_Missense_Mutation_p.P170S	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	Homo sapiens methenyltetrahydrofolate synthetase domain containing (MTHFSD), transcript variant 1, mRNA.	190					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						AGCTCTTCAGGGATGTCCACG	0.592000														34			6		0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378801	114378801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:114378801C>T	uc003pwg.4	-	1	693	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Missense_Mutation_p.E221K	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	221					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GTGTTCACTTCGCATGTATTA	0.398000														143			87		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287591	16287591	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:16287591C>T	uc010gqp.2	-	0	347	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	99								p.G99C(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CACCACTTGCCCATCTTGCTC	0.602000														396			88		0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122759828	122759828	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:122759828G>A	uc004etu.3	-	24	3024	c.2992C>T	c.(2992-2994)Cgt>Tgt	p.R998C	THOC2_uc004etw.1_5'Flank|Mir_584_uc022cdq.1_5'Flank	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	998					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						TCAACAAAACGAGCACAGTAA	0.323000														33			30		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	160264	160264	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000192.1:160264C>T	uc010yih.1	-	11		c.2158G>A						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											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)				TTCTGGACATCCTTCAGTGTC	0.557000														107			14		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28519449	28519449	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:28519449G>A	uc001zbj.3	-	6	894	c.788C>T	c.(787-789)tCc>tTc	p.S263F	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	263					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGTCACGACGGACCTGAGGAA	0.592000														28			14		0	0	1	0	0
ZNF395	55893	broad.mit.edu	37	8	28209208	28209208	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:28209208G>A	uc003xgq.3	-	6	1125	c.1037C>T	c.(1036-1038)cCt>cTt	p.P346L	ZNF395_uc003xgt.3_Missense_Mutation_p.P346L|ZNF395_uc003xgr.3_Missense_Mutation_p.P346L|ZNF395_uc003xgs.3_Missense_Mutation_p.P346L	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	346					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGGAGTCCCAGGGACTGGGGT	0.627000														98			11		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393478	164393478	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:164393478C>T	uc003iqp.4	-	0	1570	c.1409G>A	c.(1408-1410)gGa>gAa	p.G470E		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	470						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAAGCACATTCCCTTGGTATT	0.468000														113			45		0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	28928094	28928094	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:28928094G>A	uc003xhh.4	-	39	5467	c.5408C>T	c.(5407-5409)tCg>tTg	p.S1803L	KIF13B_uc011laz.2_Missense_Mutation_p.S322L	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1803					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AGCTGTCAGCGAGGCCAGGTT	0.706000														12			6		0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148627436	148627436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:148627436C>T	uc003lpy.2	+	17	1894	c.1643C>T	c.(1642-1644)tCc>tTc	p.S548F	ABLIM3_uc003lpz.1_Missense_Mutation_p.S548F|ABLIM3_uc003lqa.1_Missense_Mutation_p.S445F|ABLIM3_uc003lqb.3_Missense_Mutation_p.S437F|ABLIM3_uc003lqc.1_Missense_Mutation_p.S515F|ABLIM3_uc003lqd.1_Missense_Mutation_p.S453F|ABLIM3_uc003lqe.1_Missense_Mutation_p.S437F|ABLIM3_uc003lqf.3_Missense_Mutation_p.S437F	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	548					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	p.S547R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCGGAGCTCCACCAGCAGC	0.602000														31			6		0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584886	30584886	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30584886C>T	uc002wxe.3	+	2	1540	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	456						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTGCATCTTCCGTAAGGCCTC	0.632000														84			42		0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46962038	46962038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:46962038C>T	uc001jea.3	-	7	1351	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	SYT15_uc001jdz.2_Intron|SYT15_uc001jeb.3_Missense_Mutation_p.E278K|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	400						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CTGAGCATCTCGTCCCAGTGC	0.677000														79			20		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150842658	150842658	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:150842658G>A	uc004fev.4	+	15	2507	c.2175_splice	c.e15+1	p.Q725_splice		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	725						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)					CCTACCATCAGGTATGGGACA	0.562000														65			11		0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32751184	32751184	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32751184C>T	uc001bux.3	+	12	1535	c.1397C>T	c.(1396-1398)cCa>cTa	p.P466L	LCK_uc001buy.3_Missense_Mutation_p.P466L|LCK_uc001buz.3_Missense_Mutation_p.P496L|LCK_uc001bva.3_Missense_Mutation_p.P473L	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	466	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GACAACTGTCCAGAGGAGCTG	0.592000			T	TRB@	T-ALL									74			15		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24491771	24491771	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:24491771G>A	uc003jgr.2	-	10	2296	c.1790C>T	c.(1789-1791)tCc>tTc	p.S597F	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	597	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		AGCACTGCAGGATTGCATGTT	0.527000										HNSCC(23;0.051)				83			34		0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159028717	159028717	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:159028717G>A	uc002tzq.3	-	13	1998	c.1684C>T	c.(1684-1686)Cat>Tat	p.H562Y	CCDC148_uc002tzr.3_Missense_Mutation_p.H410Y|CCDC148_uc010foh.3_Missense_Mutation_p.H275Y|LOC554201_uc021vro.1_Intron	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	562										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGTGTTCTATGAAGTCCAGCT	0.323000														88			8		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480155	73480155	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:73480155G>A	uc003xzb.3	+	1	774	c.186G>A	c.(184-186)ggG>ggA	p.G62G		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	62					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)			CGCGCCTGGGGAAGCTTCGAG	0.552000														105			23		0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206225329	206225329	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:206225329T>A	uc001hds.2	+	0	1047	c.889T>A	c.(889-891)Ttc>Atc	p.F297I		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	297					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTGGGCTCCCTTCTTCAGTGT	0.552000														69			31		0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111156421	111156421	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:111156421C>T	uc001plc.3	+	3	500	c.353C>T	c.(352-354)cCt>cTt	p.P118L		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	118										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CTCAGCCAGCCTGACCCTGTG	0.597000														60			37		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101351026	101351026	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:101351026C>T	uc010txj.1	-	0	159	c.100G>A	c.(100-102)Gag>Aag	p.E34K	MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	34										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GACGTCGCCTCGGTGGTGTTG	0.572000														24			13		0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92714929	92714929	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92714929C>T	uc001pdk.1	+	1	643	c.540C>T	c.(538-540)tcC>tcT	p.S180S		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	180					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TTGTGGGGTCCCTGGAGTACG	0.612000														62			9		0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128799	3128799	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3128799G>A	uc021vzx.1	-	0	918	c.918C>T	c.(916-918)atC>atT	p.I306I	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Silent_p.I306I	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	306					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TATATTTAAGGATCAATGATT	0.358000														88			34		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170044495	170044495	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170044495C>T	uc002ues.3	-	48	9526	c.9313G>A	c.(9313-9315)Gat>Aat	p.D3105N		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3105	LDL-receptor class A 25.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCTTTCTCATCGCTGTTGTCC	0.483000														95			23		0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14610413	14610413	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:14610413C>T	uc003jfj.3	+	7	1174	c.1061C>T	c.(1060-1062)cCa>cTa	p.P354L		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA.	354										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TACCACATTCCAGTCTTTTAA	0.532000														58			15		0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32261345	32261345	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32261345C>T	uc021yvt.1	-	22	1278	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	C6orf10_uc011dpx.2_Missense_Mutation_p.E360K|C6orf10_uc021yvs.1_Missense_Mutation_p.E286K|C6orf10_uc011dpz.2_Missense_Mutation_p.E367K|C6orf10_uc021yvu.1_Missense_Mutation_p.E367K|C6orf10_uc021yvv.1_Missense_Mutation_p.E353K	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	369						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TCACTCTTCTCTACCTGGGCT	0.493000														198			68		0	0	1	0	0
LOC440905	440905	broad.mit.edu	37	2	130792786	130792786	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:130792786C>T	uc002tpz.2	-	7		c.2543G>A								Homo sapiens uncharacterized LOC440905 (LOC440905), non-coding RNA.																		AATTAAGTCTCCCACAGCCAT	0.468000														30			19		0	0	1	0	0
ATP5A1	498	broad.mit.edu	37	18	43678154	43678154	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:43678154G>A	uc002lbr.1	-	0	134	c.44C>T	c.(43-45)cCt>cTt	p.P15L	ATP5A1_uc010dnl.1_5'UTR|ATP5A1_uc002lbs.1_5'UTR|ATP5A1_uc002lbt.1_Missense_Mutation_p.P15L|ATP5A1_uc010dnm.1_Non-coding_Transcript	NM_004046	NP_004037	P25705	ATPA_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	15					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|MHC class I protein binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GGCCCGCCGAGGAAGGGCGCG	0.711000														31			11		0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1943503	1943503	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:1943503C>T	uc001qjt.2	+	4	1535	c.729C>T	c.(727-729)ccC>ccT	p.P243P	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Silent_p.P243P|LRTM2_uc010sdx.1_Silent_p.P243P|LRTM2_uc001qjv.2_Silent_p.P5P	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	243	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGATGGTCCCCATGGAGATGT	0.597000														43			13		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55493558	55493558	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55493558G>A	uc021vbq.1	+	5	603	c.492G>A	c.(490-492)ttG>ttA	p.L164L	NLRP2_uc010yfp.2_Silent_p.L141L|NLRP2_uc002qij.3_Silent_p.L164L|NLRP2_uc010esp.3_Silent_p.L142L|NLRP2_uc010esn.3_Silent_p.L140L|NLRP2_uc010eso.3_Silent_p.L161L	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	164					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGTATATATTGAAGACGAAGT	0.453000														239			103		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17603053	17603053	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17603053C>T	uc001bai.3	+	11	1387	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	449					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGCGGGACTTCCTCCATGCCC	0.552000														80			20		0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148715266	148715267	+	Missense_Mutation	DNP	GG	CA	CA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:148715266_148715267GG>CA	uc003lqh.3	+	17	2395_2396	c.2264_2265GG>CA	c.(2263-2265)agg>aCA	p.R755T	AFAP1L1_uc010jgy.3_Intron|AFAP1L1_uc003lqi.2_Missense_Mutation_p.R370T	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA.	755							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCAAGGAAGGGTGCTACAGA	0.485000														112			39		0	0	1	0	0
CD14	929	broad.mit.edu	37	5	140011714	140011714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140011714G>A	uc003lgi.2	-	1	1234	c.855C>T	c.(853-855)ttC>ttT	p.F285F	CD14_uc003lgj.2_Silent_p.F285F|CD14_uc021yej.1_Silent_p.F285F|CD14_uc021yek.1_Silent_p.F285F|CD14_uc021yel.1_Silent_p.F154F	NM_000591	NP_001167576	P08571	CD14_HUMAN	Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.	285					Toll signaling pathway|apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCCCAGCGAACGACAGAT	0.612000														71			13		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140301677	140301677	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:140301677G>A	uc010lnk.3	-	2	1041	c.521C>T	c.(520-522)tCg>tTg	p.S174L	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.S174L|DENND2A_uc003vvw.3_Missense_Mutation_p.S174L|DENND2A_uc003vvx.3_Missense_Mutation_p.S174L	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	174										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAGCCCTGCCGACCCATCCTT	0.597000														80			10		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41754721	41754721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41754721G>A	uc010ehj.3	+	13	1897	c.1707G>A	c.(1705-1707)atG>atA	p.M569I	AXL_uc010ehk.3_Missense_Mutation_p.M560I	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	569	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TGAAGACGATGAAGAGTGAGT	0.547000														39			15		0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154543767	154543767	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154543767G>A	uc001ffg.3	+	4	732	c.468G>A	c.(466-468)aaG>aaA	p.K156K		NM_000748	NP_000739	P17787	ACHB2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 2 (neuronal) (CHRNB2), mRNA.	156					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.K156N(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	GCGCATGCAAGATTGAAGTAA	0.527000														53			38		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5436228	5436228	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:5436228C>T	uc002gci.3	-	10	3765	c.3210G>A	c.(3208-3210)acG>acA	p.T1070T	NLRP1_uc002gcg.1_Silent_p.T1074T|NLRP1_uc002gch.4_Silent_p.T1070T|NLRP1_uc002gck.3_Silent_p.T1070T|NLRP1_uc002gcj.3_Silent_p.T1040T|NLRP1_uc002gcl.3_Silent_p.T1040T|NLRP1_uc010clh.3_Silent_p.T1070T	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1070					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCAAAGGCTTCGTATGCAGGT	0.577000														34			23		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110413787	110413787	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110413787C>T	uc003yne.3	+	13	1447	c.1343C>T	c.(1342-1344)tCa>tTa	p.S448L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	448					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			ACACAAAGATCAGATGATATT	0.333000										HNSCC(38;0.096)				37			8		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104111	168104111	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:168104111G>A	uc002udx.3	+	8	6298	c.6209G>A	c.(6208-6210)gGa>gAa	p.G2070E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G1895E|XIRP2_uc010fpq.3_Missense_Mutation_p.G1848E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1895					actin cytoskeleton organization	cell junction	actin binding	p.G2070R(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATACTACAGGAGAACAGCAT	0.378000														76			13		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087032	92087032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92087032G>A	uc001pdj.4	+	0	1771	c.1754G>A	c.(1753-1755)gGa>gAa	p.G585E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	585	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTTGCCAGGGAGTTATTTCA	0.428000										TCGA Ovarian(4;0.039)				29			14		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228467731	228467731	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228467731G>A	uc009xez.1	+	27	7650	c.7606G>A	c.(7606-7608)Ggt>Agt	p.G2536S	OBSCN_uc001hsn.3_Missense_Mutation_p.G2536S|OBSCN_uc001hsp.1_Missense_Mutation_p.G235S|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2536	Ig-like 24.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCTGATGCTGGTGTCTACCG	0.612000														9			4		0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	73980758	73980758	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:73980758G>A	uc010rrj.2	-	10	1449	c.1406C>T	c.(1405-1407)tCg>tTg	p.S469L	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Missense_Mutation_p.S469L			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	469	Fe2OG dioxygenase.					endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					AGCTTCCACCGAGCTCAGCTA	0.547000														50			23		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114154814	114154814	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:114154814C>T	uc001kzu.3	+	1	390	c.278C>T	c.(277-279)cCc>cTc	p.P93L	ACSL5_uc001kzs.3_Missense_Mutation_p.P37L|ACSL5_uc001kzt.3_Missense_Mutation_p.P37L|ACSL5_uc009xxz.3_Missense_Mutation_p.P37L	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	37					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGACCTCAACCCGTCTTACCT	0.448000														91			31		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7576563	7576563	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7576563G>A	uc003mxp.1	+	18	2946	c.2667G>A	c.(2665-2667)agG>agA	p.R889R	DSP_uc003mxq.1_Silent_p.R889R|DSP_uc021yle.1_Silent_p.R889R	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	889	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)		AGCAATTGAGGAATTATCGTG	0.373000														71			32		0	0	1	0	0
MDS2	259283	broad.mit.edu	37	1	23908127	23908127	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:23908127C>T	uc001bhi.3	+	0		c.143C>T								Homo sapiens myelodysplastic syndrome 2 translocation associated (MDS2), non-coding RNA.											breast(1)|ovary(2)	3						aaactgggttcctctaagccc	0.557000			T	ETV6	MDS									12			7		0	0	1	0	0
CNN3	1266	broad.mit.edu	37	1	95363566	95363566	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:95363566G>A	uc001dqz.4	-	6	1007	c.722C>T	c.(721-723)tCg>tTg	p.S241L	CNN3_uc010otv.2_Missense_Mutation_p.S200L|CNN3_uc010otx.2_Missense_Mutation_p.S195L	NM_001839	NP_001830	Q15417	CNN3_HUMAN	Homo sapiens calponin 3, acidic (CNN3), mRNA.	241					actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		GGAAATTGTCGAGTTGTCCAC	0.443000														126			45		0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104238592	104238592	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104238592C>T	uc004bbm.3	-	1	1105	c.783G>A	c.(781-783)cgG>cgA	p.R261R	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.R261R	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	261						integral to membrane											ATTCCAGGATCCGCATGGGCT	0.552000														71			61		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853596	12853596	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12853596C>T	uc001auj.2	+	1	323	c.220C>T	c.(220-222)Cat>Tat	p.H74Y		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	74										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGACGCTTCATTTGGAGAC	0.557000														149			53		0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62751905	62751905	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62751905C>T	uc001nwk.3	-	0	591	c.258G>A	c.(256-258)tgG>tgA	p.W86*	SLC22A6_uc001nwl.3_Nonsense_Mutation_p.W86*|SLC22A6_uc001nwj.3_Nonsense_Mutation_p.W86*|SLC22A6_uc001nwm.3_Nonsense_Mutation_p.W86*	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	86					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGGGCAGTCCCCACTGCGGGG	0.637000														123			21		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46308272	46308272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46308272C>T	uc002pdm.3	-	2	1062	c.891G>A	c.(889-891)ggG>ggA	p.G297G	RSPH6A_uc002pdl.3_Silent_p.G33G	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	297						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CTGGTGTCTCCCCCTGCGCAG	0.582000														55			8		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48634378	48634378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48634378G>A	uc003toq.2	+	57	14737	c.14713G>A	c.(14713-14715)Gaa>Aaa	p.E4905K	ABCA13_uc010kys.1_Missense_Mutation_p.E1980K|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.E635K	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4905	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGAGGTTCGGGAAGGCTGTGC	0.488000														97			43		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41664893	41664893	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:41664893G>A	uc003gvz.4	+	19	3600	c.3183G>A	c.(3181-3183)gtG>gtA	p.V1061V	LIMCH1_uc003gwe.4_Silent_p.V676V|LIMCH1_uc003gvu.4_Silent_p.V676V|LIMCH1_uc003gvv.4_Silent_p.V676V|LIMCH1_uc003gvw.4_Silent_p.V676V|LIMCH1_uc003gvx.4_Silent_p.V664V|LIMCH1_uc003gvy.4_Silent_p.V505V|LIMCH1_uc003gwa.4_Silent_p.V517V|LIMCH1_uc011byu.2_Silent_p.V510V|LIMCH1_uc003gwc.4_Silent_p.V522V|LIMCH1_uc003gwd.4_Silent_p.V510V|LIMCH1_uc011byv.2_Silent_p.V427V|LIMCH1_uc011byw.2_5'UTR	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	676	LIM zinc-binding.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TGGCCTTTGTGGAATTTCCCT	0.458000														98			12		0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57379309	57379309	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57379309G>A	uc001nkp.1	+	6	1340	c.1149G>A	c.(1147-1149)atG>atA	p.M383I	SERPING1_uc010rju.1_Missense_Mutation_p.M331I|SERPING1_uc010rjv.1_Missense_Mutation_p.M388I|SERPING1_uc001nkr.1_Missense_Mutation_p.M383I|SERPING1_uc001nks.1_Missense_Mutation_p.M74I	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	383					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						AGGCCATCATGGAGAAACTGG	0.498000														119			40		0	0	1	0	0
BBC3	27113	broad.mit.edu	37	19	47725025	47725025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:47725025G>A	uc010xyl.2	-	3	883	c.719C>T	c.(718-720)tCg>tTg	p.S240L	BBC3_uc002pgf.4_3'UTR|BBC3_uc010eky.3_3'UTR|BBC3_uc010ekz.3_Missense_Mutation_p.S80L	NM_001127240	NP_055232	Q9BXH1	BBC3_HUMAN	Homo sapiens BCL2 binding component 3 (BBC3), transcript variant 1, mRNA.	0					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol	cytosol|mitochondrial outer membrane	protein binding			endometrium(1)|lung(2)|skin(1)	4		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		CCTGCCCCCCGAGTCCCTGAC	0.672000														15			9		0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021806	5021806	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:5021806G>A	uc001qnh.3	+	1	2367	c.1262G>A	c.(1261-1263)gGg>gAg	p.G421E	KCNA1_uc021qts.1_Missense_Mutation_p.G421E	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	421					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.E420Q(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAAACTGAGGGGGAAGAGCAG	0.527000														240			103		0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10132227	10132227	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:10132227C>T	uc002raa.3	+	10	1585	c.1414C>T	c.(1414-1416)Ctc>Ttc	p.L472F	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Missense_Mutation_p.L283F|GRHL1_uc010yjb.2_Missense_Mutation_p.L321F	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	472					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TCAGCCTGTCCTCTTCATTCC	0.483000														50			13		0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124459274	124459274	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124459274C>T	uc001lgn.3	-	0	65	c.33G>A	c.(31-33)agG>agA	p.R11R		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	11										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTTTTTCAATCCTCTGACAGT	0.428000														64			22		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61542375	61542375	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61542375G>A	uc002ydr.2	-	2	902	c.590C>T	c.(589-591)cCc>cTc	p.P197L	DIDO1_uc002yds.2_Missense_Mutation_p.P197L|DIDO1_uc002ydt.2_Missense_Mutation_p.P197L|DIDO1_uc002ydu.2_Missense_Mutation_p.P197L|DIDO1_uc002ydv.2_Missense_Mutation_p.P197L|DIDO1_uc002ydw.2_Missense_Mutation_p.P197L|DIDO1_uc002ydx.2_Missense_Mutation_p.P197L|DIDO1_uc011aao.1_Missense_Mutation_p.P197L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	197					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGTCTCGGCGGGACCCTCCTC	0.657000														35			28		0	0	1	0	0
GCFC1	94104	broad.mit.edu	37	21	34123226	34123226	+	Splice_Site	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:34123226A>G	uc002yqn.3	-	10	1913	c.1723_splice	c.e10+1	p.D575_splice	GCFC1_uc002yql.3_Splice_Site_p.D84_splice|GCFC1_uc002yqm.3_Splice_Site_p.D69_splice|GCFC1_uc002yqo.3_Splice_Site|GCFC1_uc002yqp.3_Splice_Site_p.D575_splice	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 1 (GCFC1), transcript variant 1, mRNA.	575						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(11)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	39						TAAATGTCTAACCTTTTTCCA	0.358000														58			31		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588393	204588393	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204588393G>A	uc021phy.1	-	0	728	c.728C>T	c.(727-729)tCc>tTc	p.S243F	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.S243F|LRRN2_uc001hbf.1_Missense_Mutation_p.S243F|LRRN2_uc009xbf.1_Missense_Mutation_p.S243F|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	243					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTCATAGAAGGAGAGGCTCTC	0.642000														59			15		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32378891	32378891	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:32378891C>T	uc002wzy.3	+	14	2153	c.2133C>T	c.(2131-2133)ttC>ttT	p.F711F	ZNF341_uc002wzx.3_Silent_p.F704F|ZNF341_uc010geq.3_Silent_p.F621F|ZNF341_uc010ger.3_Non-coding_Transcript|ZNF341_uc002wzz.3_Silent_p.F138F	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						ACTACAAGTTCCGCTGTGCTG	0.622000														45			23		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43552311	43552311	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43552311C>T	uc001zrd.2	-	2	383	c.375G>A	c.(373-375)caG>caA	p.Q125Q	TGM5_uc001zre.2_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	125					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TCACAGACCCCTGGAAGGAGT	0.612000														75			53		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792787	131792787	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:131792787G>A	uc003ytd.4	-	17	3861	c.3605C>T	c.(3604-3606)tCc>tTc	p.S1202F	ADCY8_uc010mds.3_Missense_Mutation_p.S1071F	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1202					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCTATTGAGGGACTGGACAAG	0.537000										HNSCC(32;0.087)				60			43		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23083503	23083503	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23083503G>A	uc002dll.3	-	14	2351	c.2351C>T	c.(2350-2352)tCc>tTc	p.S784F	USP31_uc002dlk.3_Missense_Mutation_p.S56F|USP31_uc010vca.2_Missense_Mutation_p.S87F|USP31_uc010bxm.3_Missense_Mutation_p.S72F	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	784	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTCACACAGGGAAGAACTTGT	0.622000														52			17		0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33507692	33507692	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:33507692G>A	uc002hja.3	+	17	2473	c.2376G>A	c.(2374-2376)aaG>aaA	p.K792K	UNC45B_uc002hjb.3_Silent_p.K790K|UNC45B_uc002hjc.3_Silent_p.K790K|UNC45B_uc010cto.3_Silent_p.K711K	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	792					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGCTCCACAAGGAGGTGAGGC	0.602000														23			11		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807501	20807501	+	Silent	SNP	C	T	T	rs111500900		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:20807501C>T	uc002npb.1	-	3	1332	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E	ZNF626_uc002npc.1_Silent_p.E318E	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGTAGGGTTTCTCTCCAGTAT	0.393000														85			25		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4950860	4950860	+	Missense_Mutation	SNP	C	T	T	rs149764746	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:4950860C>T	uc002cyd.1	-	5	667	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	193					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCCCGGAGTTCGCTGTTCTGC	0.657000														207			56		0	0	1	0	0
C5orf48	389320	broad.mit.edu	37	5	125971753	125971753	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:125971753C>T	uc003kub.1	+	2	238	c.225C>T	c.(223-225)ggC>ggT	p.G75G		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	Homo sapiens chromosome 5 open reading frame 48 (C5orf48), mRNA.	75										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						TCCATACTGGCCCTTTAGAAG	0.383000														178			30		0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10079019	10079019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:10079019G>A	uc021xlv.1	-	13	1906	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	WDR1_uc021xlw.1_Silent_p.S401S|WDR1_uc010idm.3_Non-coding_Transcript	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	541					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CATTGTCTGGGGACCAGGCCA	0.507000														88			22		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165984293	165984293	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:165984293C>T	uc002ucx.3	-	17	3733	c.3241G>A	c.(3241-3243)Gaa>Aaa	p.E1081K	SCN3A_uc002ucy.3_Missense_Mutation_p.E1032K|SCN3A_uc002ucz.3_Missense_Mutation_p.E1032K|SCN3A_uc002uda.1_Missense_Mutation_p.E901K|SCN3A_uc002udb.1_Missense_Mutation_p.E901K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1081						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ACGTATTTTTCAACACTGCTT	0.393000														62			24		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37447489	37447489	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:37447489G>A	uc021ppc.1	+	14	1806	c.1707G>A	c.(1705-1707)ttG>ttA	p.L569L	ANKRD30A_uc001iza.1_Silent_p.L569L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	625						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCTTAGAATTGAAGGACATGC	0.289000														97			30		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059007	79059007	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:79059007C>T	uc002bej.4	-	18	3457	c.3246G>A	c.(3244-3246)gaG>gaA	p.E1082E	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1082					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GATCGGGCTCCTCAGAGGGCC	0.632000														51			7		0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471412	47471412	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:47471412C>T	uc001rpm.3	-	2	2029	c.1374G>A	c.(1372-1374)cgG>cgA	p.R458R	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Silent_p.R458R|AMIGO2_uc001rpl.3_Silent_p.R458R|AMIGO2_uc021qxg.1_Silent_p.R458R	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	458					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CACCTGCCTTCCGTTCATCAG	0.512000														67			17		0	0	1	0	0
EBI3	10148	broad.mit.edu	37	19	4231288	4231288	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4231288C>T	uc002lzu.3	+	1	176	c.168C>T	c.(166-168)tcC>tcT	p.S56S		NM_005755	NP_005746	Q14213	IL27B_HUMAN	Homo sapiens Epstein-Barr virus induced 3 (EBI3), mRNA.	56	Fibronectin type-III 1.				T-helper 1 type immune response|humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAAACTCCACCAGCCCCG	0.657000														27			4		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871662	8871662	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:8871662G>A	uc002qzc.2	-	29	4686	c.4504C>T	c.(4504-4506)Ctc>Ttc	p.L1502F	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.L1403F|KIDINS220_uc002qzb.2_Missense_Mutation_p.L356F	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1502					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCTGGAAGAGGCTTGACCTT	0.473000														46			19		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86196269	86196269	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:86196269C>T	uc001dlj.3	-	59	5180	c.5105G>A	c.(5104-5106)cGa>cAa	p.R1702Q	COL24A1_uc001dli.3_Missense_Mutation_p.R817Q|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.R1002Q|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1702	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent	p.R1702Q(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTAATACTTTCGTTCAGTTTT	0.413000														82			32		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49052746	49052746	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:49052746G>A	uc003gyv.3	+	14	2083	c.1901G>A	c.(1900-1902)aGt>aAt	p.S634N	CWH43_uc011bzl.2_Missense_Mutation_p.S607N	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	634					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTGAACTGAGTGATTCAGAA	0.383000														70			34		0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215301468	215301468	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:215301468C>T	uc002vet.2	+	2	636	c.506C>T	c.(505-507)cCt>cTt	p.P169L	VWC2L_uc010zjl.1_Intron	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	169	VWFC 2.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						CAATGTTGTCCTGTCTGCAAA	0.453000														31			14		0	0	1	0	0
CYP17A1	1586	broad.mit.edu	37	10	104596855	104596855	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104596855C>T	uc001kwg.3	-	0	436	c.264G>A	c.(262-264)aaG>aaA	p.K88K		NM_000102	NP_000093	P05093	CP17A_HUMAN	Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.	88					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	CCTTGCCCTTCTTAATAAGCA	0.547000														81			34		0	0	1	0	0
TCRBV20S1	0	broad.mit.edu	37	7	142032366	142032366	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142032366G>A	uc011krs.1	+	1	219	c.186G>A	c.(184-186)ctG>ctA	p.L62L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron					Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds.																		GGCAGGGCCTGGAGTTTCCAA	0.507000														25			6		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85401165	85401165	+	Missense_Mutation	SNP	C	T	T	rs139722212		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:85401165C>T	uc002ble.3	+	5	3969	c.3802C>T	c.(3802-3804)Ccc>Tcc	p.P1268S		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1268					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)			GGGTCCTGGTCCCAGCTCCCT	0.687000														19			6		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102067320	102067320	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:102067320G>A	uc001tii.3	+	23	2848	c.2708G>A	c.(2707-2709)aGg>aAg	p.R903K	MYBPC1_uc001tig.3_Missense_Mutation_p.R910K|MYBPC1_uc010svr.2_Missense_Mutation_p.R885K|MYBPC1_uc010svs.2_Missense_Mutation_p.R903K|MYBPC1_uc001tij.3_Missense_Mutation_p.R885K|MYBPC1_uc010svt.2_Missense_Mutation_p.R873K|MYBPC1_uc010svu.2_Missense_Mutation_p.R866K|MYBPC1_uc001tik.3_Missense_Mutation_p.R859K|MYBPC1_uc001tih.3_Missense_Mutation_p.R910K|MYBPC1_uc010svq.2_Missense_Mutation_p.R872K|MYBPC1_uc001til.3_5'UTR	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	903	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.I902I(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AAAGCAGAGAGGAGCCACTCT	0.388000														178			84		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160519	132160519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:132160519C>T	uc011mvf.2	-	0	1782	c.1730G>A	c.(1729-1731)cGa>cAa	p.R577Q	USP26_uc010nrm.1_Missense_Mutation_p.R577Q	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	577					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AGTCATCTTTCGAATAACTTT	0.398000														22			38		0	0	1	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36500359	36500359	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36500359C>T	uc021wdj.1	+	15	1727	c.1636C>T	c.(1636-1638)Ccg>Tcg	p.P546S	CTNNBL1_uc002xhh.3_Missense_Mutation_p.P359S|CTNNBL1_uc002xhi.3_Non-coding_Transcript|CTNNBL1_uc002xhj.3_Missense_Mutation_p.P294S	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	546					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CGGCCGGAGCCCGGAGTTCCG	0.597000														69			17		0	0	1	0	0
NEURL	9148	broad.mit.edu	37	10	105331392	105331392	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105331392C>T	uc001kxh.3	+	2	872	c.462C>T	c.(460-462)gcC>gcT	p.A154A	NEURL_uc021pxn.1_Silent_p.A137A	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	154	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCTTCTGGGCCAAGGCGCTGC	0.622000														34			18		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873950	36873950	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36873950C>T	uc003cgj.3	-	20	7240	c.6992G>A	c.(6991-6993)gGg>gAg	p.G2331E		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2331					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTGCCTCTCCCCCTGCCCCT	0.502000														111			52		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53223903	53223903	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53223903C>T	uc001sbb.3	-	4	793	c.760_splice	c.e4-1	p.D254_splice	KRT79_uc001sba.3_Splice_Site_p.D25_splice	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	254	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATCCACATCCTGGGGACGAG	0.582000														51			19		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1189698	1189698	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:1189698G>A	uc003boz.3	+	1	273	c.6G>A	c.(4-6)agG>agA	p.R2R	CNTN6_uc010hbo.2_5'UTR|CNTN6_uc011asj.2_Intron|CNTN6_uc003bpa.3_Silent_p.R2R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	2					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)		TGGAAATGAGGTTGCTATGGA	0.348000														134			16		0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43569108	43569108	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43569108G>C	uc001zrf.1	-	11	1930	c.1925C>G	c.(1924-1926)aCg>aGg	p.T642R		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	642					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CAGCACCATCGTGCAGCTGCT	0.582000														42			21		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84606558	84606558	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:84606558G>A	uc004amn.3	+	3	1220	c.1173G>A	c.(1171-1173)ggG>ggA	p.G391G		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	391						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CCTTTTTAGGGGGGCACTCTG	0.473000														49			16		0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150259114	150259114	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:150259114C>T	uc001euj.3	+	4	1355	c.906C>T	c.(904-906)ccC>ccT	p.P302P	C1orf51_uc001euh.3_Silent_p.P302P|C1orf51_uc001eui.3_Silent_p.P214P	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	302										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGTGCAACCCTTCACCCACT	0.557000														168			17		0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159166610	159166610	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:159166610C>T	uc003qrp.3	+	12	1353	c.954C>T	c.(952-954)ttC>ttT	p.F318F	SYTL3_uc003qrr.3_Silent_p.F318F|SYTL3_uc003qro.3_Silent_p.F250F|SYTL3_uc003qrs.3_Silent_p.F250F|SYTL3_uc011efq.2_Silent_p.F44F	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	318	C2 1.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		ATTATTGCTTCAAAACCCATT	0.358000														14			6		0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105215432	105215432	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105215432T>A	uc001kxe.2	-	1	768	c.628A>T	c.(628-630)Acg>Tcg	p.T210S	CALHM2_uc001kxd.1_5'Flank	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	Homo sapiens calcium homeostasis modulator 1 (CALHM1), mRNA.	210						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GCGGCCTGCGTGAAGCAGGGC	0.612000														62			9		0	0	1	0	0
GNA15	2769	broad.mit.edu	37	19	3155824	3155824	+	Silent	SNP	C	T	T	rs140382547		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3155824C>T	uc002lxf.2	+	4	876	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_002068	NP_002059	P30679	GNA15_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA.	206					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CCTGTAGGATCGTGGACGTCG	0.557000														46			19		0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49031038	49031038	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:49031038G>A	uc001zwz.3	-	26	4734	c.4541C>T	c.(4540-4542)cCt>cTt	p.P1514L	CEP152_uc001zwy.3_Missense_Mutation_p.P1458L	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	1458					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGATTCAGAAGGACCAGGGGT	0.398000														66			26		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160093842	160093842	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160093842C>T	uc001fvc.3	+	4	623	c.491C>T	c.(490-492)cCt>cTt	p.P164L	ATP1A2_uc001fvb.2_Missense_Mutation_p.P164L|ATP1A2_uc010piz.1_Missense_Mutation_p.P9L	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	164					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AACATGGTACCTCAGGTAAGA	0.532000														57			17		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48248804	48248804	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:48248804G>A	uc002eff.1	-	7	1586	c.1236C>T	c.(1234-1236)ctC>ctT	p.L412L	ABCC11_uc002efg.1_Silent_p.L412L|ABCC11_uc002efh.1_Silent_p.L412L|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	412	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TTGACGCTGTGAGTTTCAGCT	0.502000														41			18		0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94776126	94776126	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94776126G>A	uc001ycv.3	-	2	935	c.831C>T	c.(829-831)atC>atT	p.I277I	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	277					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	p.V276F(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TCAGTGCAGCGATGACTGTGT	0.562000														89			34		0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105769081	105769081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:105769081G>A	uc001pix.2	+	6	1259	c.813G>A	c.(811-813)atG>atA	p.M271I	GRIA4_uc001piu.1_Missense_Mutation_p.M271I|GRIA4_uc001piw.2_Missense_Mutation_p.M271I|GRIA4_uc009yxk.1_Missense_Mutation_p.M271I	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	271					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATACACCTATGGTAATCAAAC	0.353000														54			21		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41416085	41416085	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41416085C>T	uc002yyq.1	-	30	5755	c.5303G>A	c.(5302-5304)tGg>tAg	p.W1768*	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1768					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGCAGCCTCCAGTCTGTGGT	0.617000														92			36		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196642646	196642646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196642646C>T	uc002utj.4	-	58	11043	c.10942G>A	c.(10942-10944)Gat>Aat	p.D3648N	DNAH7_uc002uti.4_Missense_Mutation_p.D131N	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3648					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D3648N(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCCAGTCATCGGTCACTCTG	0.473000														54			17		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069366	9069366	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9069366G>A	uc002mkp.3	-	2	18284	c.18080C>T	c.(18079-18081)tCc>tTc	p.S6027F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6029	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						TGAGACAGAGGAATGTAGTTT	0.453000														154			81		0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117870052	117870052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:117870052G>A	uc001prv.3	+	6	1510	c.1433G>A	c.(1432-1434)gGg>gAg	p.G478E	IL10RA_uc010rxl.2_Missense_Mutation_p.G458E|IL10RA_uc010rxm.2_Missense_Mutation_p.G458E|IL10RA_uc010rxn.2_Missense_Mutation_p.G329E|IL10RA_uc001prw.3_Missense_Mutation_p.G329E	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	478						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CCCAAATTCGGGAGATGCCTG	0.562000														69			19		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161132108	161132108	+	Splice_Site	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:161132108G>C	uc003qtm.4	+	4	405	c.293_splice	c.e4-1	p.V98_splice	PLG_uc021zhr.1_Splice_Site_p.V98_splice	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	98	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTTCCCTTCAGTGTATCTCTC	0.453000														24			20		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38647586	38647586	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38647586G>A	uc021wvo.1	-	8	1246	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	SCN5A_uc021wvk.1_Silent_p.F398F|SCN5A_uc021wvl.1_Silent_p.F398F|SCN5A_uc021wvm.1_Silent_p.F398F|SCN5A_uc021wvn.1_Silent_p.F398F|SCN5A_uc021wvp.1_Silent_p.F398F|SCN5A_uc021wvq.1_Silent_p.F398F|SCN5A_uc021wvr.1_Silent_p.F398F|SCN5A_uc021wvs.1_Silent_p.F398F|SCN5A_uc021wvt.1_Silent_p.F398F|SCN5A_uc021wvu.1_Silent_p.F398F|SCN5A_uc021wvv.1_Silent_p.F398F|SCN5A_uc021wvj.1_Silent_p.F264F|SCN5A_uc021wvi.1_Silent_p.F264F|SCN5A_uc021wvw.1_Silent_p.F9F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	398					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGGACCCCAGGAAGATGACAA	0.577000														64			15		0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50383659	50383660	+	Splice_Site	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50383659_50383660GG>AA	uc002pqo.3	+	4	618	c.319_splice	c.e4+1	p.G107_splice	TBC1D17_uc010enn.2_Splice_Site|TBC1D17_uc010ybg.2_Splice_Site_p.G74_splice|TBC1D17_uc002pqp.3_Splice_Site|TBC1D17_uc002pqr.3_Splice_Site	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	107						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GCCCACGAGAGGTAGGCTGAGG	0.594000														32			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179456933	179456933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179456933C>T	uc021vsy.1	-	250	52219	c.51994G>A	c.(51994-51996)Gaa>Aaa	p.E17332K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E11027K|TTN_uc021vta.1_Missense_Mutation_p.E10960K|TTN_uc021vtb.1_Missense_Mutation_p.E10835K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18259	Fibronectin type-III 25.						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)			TCCAGTGGTTCTTTCCAAGTA	0.408000														19			11		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156909560	156909560	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156909560G>A	uc001fqo.3	-	35	4796	c.3756C>T	c.(3754-3756)tcC>tcT	p.S1252S	ARHGEF11_uc010phu.2_Silent_p.S668S|ARHGEF11_uc001fqn.3_Silent_p.S1292S	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	1252					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTTGCCCTGGGGAGCCTGGGT	0.642000														43			15		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1987498	1987498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:1987498G>A	uc021qsx.1	-	15	1933	c.1702C>T	c.(1702-1704)Ccc>Tcc	p.P568S	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.P456S	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	568	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CGGAGGTCGGGATGGGAGAGG	0.507000														6			4		0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64202268	64202268	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:64202268C>T	uc002lkc.1	-	7	1429	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.E431K|CDH19_uc002lkd.3_Missense_Mutation_p.E431K	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	431	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GCACTGATTTCACGATCCAGT	0.328000														66			14		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79067090	79067090	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:79067090G>A	uc002bej.4	-	11	1963	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Silent_p.F584F	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	584	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGCAGAGGCGGAAGCGCTTGC	0.637000														70			16		0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49932749	49932749	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49932749G>A	uc003cxy.4	-	13	3386	c.3122C>T	c.(3121-3123)tCc>tTc	p.S1041F	MST1R_uc011bdc.2_Missense_Mutation_p.S992F	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	1041					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TTCACTATCGGAGAAGGATGC	0.562000														108			45		0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75325210	75325210	+	Splice_Site	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75325210T>G	uc021rwo.1	-	3	1312	c.1312_splice	c.e3-1	p.E438_splice	PROX2_uc001xqp.2_Splice_Site_p.E436_splice|PROX2_uc001xqq.2_Intron	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	438					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GTTTAGACCCTCCTGGATTTA	0.383000														7			7		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87772364	87772364	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87772364C>T	uc003ujn.3	+	14	1459	c.1244C>T	c.(1243-1245)aCc>aTc	p.T415I	ADAM22_uc003ujk.2_Missense_Mutation_p.T415I|ADAM22_uc003ujl.2_Missense_Mutation_p.T415I|ADAM22_uc003ujm.3_Missense_Mutation_p.T415I|ADAM22_uc003ujo.3_Missense_Mutation_p.T415I|ADAM22_uc003ujp.1_Missense_Mutation_p.T467I	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	415	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AAAAAGTTCACCCAGTGTAAT	0.358000														127			32		0	0	1	0	0
GNLY	10578	broad.mit.edu	37	2	85921566	85921566	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:85921566C>T	uc002sql.4	+	0	153	c.25C>T	c.(25-27)Ctt>Ttt	p.L9F	GNLY_uc010fgp.3_5'UTR|GNLY_uc010ysx.2_Missense_Mutation_p.L9F	NM_006433	NP_006424	P22749	GNLY_HUMAN	Homo sapiens granulysin (GNLY), transcript variant NKG5, mRNA.	9					cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						CCTCCTGCTCCTTGCAGCCAT	0.617000														56			25		0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101609053	101609053	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:101609053C>T	uc003yjr.3	-	9	943	c.792G>A	c.(790-792)cgG>cgA	p.R264R	SNX31_uc011lha.2_Silent_p.R59R|SNX31_uc011lhb.2_Silent_p.R165R	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	264					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GCCGTACCTCCCGGGCCAGCT	0.512000														83			31		0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390475	61390475	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61390475G>A	uc002ljk.4	+	8	1189	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	SERPINB11_uc010xes.2_Missense_Mutation_p.E166K|SERPINB11_uc010dqd.3_Intron|SERPINB11_uc002ljj.4_Missense_Mutation_p.E227K|SERPINB11_uc010dqe.3_Missense_Mutation_p.E140K|SERPINB11_uc010dqf.3_Missense_Mutation_p.E139K	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	341					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GGATGTCAGCGAAGAGGGCAC	0.498000														53			10		0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141336442	141336442	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:141336442C>T	uc003llx.3	-	0	2186	c.975G>A	c.(973-975)agG>agA	p.R325R		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	325	Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCCAGGTCCCTTGCCTGAA	0.522000														56			25		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73152144	73152144	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:73152144C>T	uc004aid.3	-	24	4093	c.3849G>A	c.(3847-3849)tcG>tcA	p.S1283S	TRPM3_uc004ahu.3_Silent_p.S1125S|TRPM3_uc004ahv.3_Silent_p.S1085S|TRPM3_uc004ahw.3_Silent_p.S1155S|TRPM3_uc004ahx.3_Silent_p.S1142S|TRPM3_uc004ahy.3_Silent_p.S1145S|TRPM3_uc004ahz.3_Silent_p.S1132S|TRPM3_uc004aia.3_Silent_p.S1130S|TRPM3_uc004aib.3_Silent_p.S1120S|TRPM3_uc004aic.3_Silent_p.S1283S	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1308						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACGAGGTCCTCGAGCGGATTT	0.612000														64			33		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211192190	211192190	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:211192190C>T	uc001hib.2	-	5	1137	c.967G>A	c.(967-969)Ggt>Agt	p.G323S	KCNH1_uc001hic.2_Intron	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	323					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCTGGATCACCCATAAAGGCA	0.468000														129			38		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106405642	106405642	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106405642G>A	uc021ser.1	-	3033		c.50150C>T								Parts of antibodies, mostly variable regions.																		CGTGTCCTCGGGAGTCACAGA	0.502000														150			72		0	0	1	0	0
HERC2P2	400322	broad.mit.edu	37	15	23299694	23299694	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:23299694G>A	uc001yvq.2	-	4		c.1714C>T			HERC2P2_uc001yvo.4_Non-coding_Transcript|HERC2P2_uc001yvp.4_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 2 (HERC2P2), non-coding RNA.																		GGAGTAGGCGGCATCATCCAT	0.592000														44			8		0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36348818	36348818	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:36348818C>T	uc001uvf.3	-	17	2434	c.2151G>A	c.(2149-2151)agG>agA	p.R717R	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Silent_p.R410R|DCLK1_uc010teh.2_Missense_Mutation_p.E386K|DCLK1_uc010abk.3_Silent_p.R237R	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	0					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACCTGCCTCTCCTTATCAAGA	0.512000														10			3		0	0	1	0	0
UBE2U	148581	broad.mit.edu	37	1	64671357	64671357	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:64671357G>A	uc001dbn.1	+	1	346	c.102G>A	c.(100-102)atG>atA	p.M34I		NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2U (putative) (UBE2U), mRNA.	34							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						AAGATATGATGGAATGGGAAG	0.274000														92			21		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34006240	34006240	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34006240G>A	uc001bxm.1	-	59	9693	c.9516C>T	c.(9514-9516)ttC>ttT	p.F3172F	CSMD2_uc001bxn.1_Silent_p.F3028F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3148	Sushi 25.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGCCCCACATGAAGTCAGACC	0.602000														87			33		0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100148243	100148243	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:100148243G>A	uc001kpc.3	-	12	1401	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	PYROXD2_uc001kpb.3_Intron	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	439							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						AGCGAGGAAGGGATGCAGAGC	0.622000														13			8		0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447993	24447993	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24447993G>A	uc001biq.2	-	6	1230	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	IL22RA1_uc010oeg.1_Missense_Mutation_p.P275S|IL22RA1_uc009vrb.2_Missense_Mutation_p.P207S|IL22RA1_uc010oeh.2_Missense_Mutation_p.P343S	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	343						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		AGGATCTGGGGAGGTGGCACG	0.627000														61			30		0	0	1	0	0
TPTEP1	387590	broad.mit.edu	37	22	17119611	17119611	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17119611C>T	uc002zls.1	+	1		c.448C>T			TPTEP1_uc002zlr.3_Non-coding_Transcript|TPTEP1_uc002zlt.3_Non-coding_Transcript					Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		GGATGTTCTTCTTCGAGTATT	0.358000														48			21		0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70764432	70764432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:70764432C>T	uc004eaa.2	+	3	716	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.R150C|OGT_uc004eac.3_5'Flank|OGT_uc004ead.3_5'Flank|OGT_uc011mpw.2_Missense_Mutation_p.R160C	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	160					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GTACTGTGTTCGCAGTGACCT	0.398000														15			3		0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795341	142795341	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:142795341C>T	uc004fbz.3	-	1	1091	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	113								p.D112G(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGTCTTCGTCCTCCTGT	0.532000														241			18		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74013982	74013982	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74013982G>A	uc010wss.1	-	13	1842	c.1614C>T	c.(1612-1614)ggC>ggT	p.G538G	EVPL_uc002jqi.2_Silent_p.G516G|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	516	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCAGGTCTGAGCCAGATGGAG	0.657000														55			18		0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190468	58190468	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58190468G>A	uc010rkg.2	-	0	319	c.267C>T	c.(265-267)gtC>gtT	p.V89V		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGTAGGAGATGACCTTGTCTC	0.488000														122			45		0	0	1	0	0
PKIA	5569	broad.mit.edu	37	8	79513998	79513998	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:79513998G>A	uc003yba.3	+	3	697	c.173G>A	c.(172-174)cGa>cAa	p.R58Q	PKIA_uc003ybb.3_Missense_Mutation_p.R58Q|PKIA_uc010lzo.3_Missense_Mutation_p.R58Q	NM_006823	NP_862822	P61925	IPKA_HUMAN	Homo sapiens protein kinase (cAMP-dependent, catalytic) inhibitor alpha (PKIA), transcript variant 1, mRNA.	58							cAMP-dependent protein kinase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						GATGCACAACGAAGTTCTACA	0.388000														31			7		0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54822693	54822693	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54822693G>A	uc002qfe.3	-	4	823	c.703C>T	c.(703-705)Ccg>Tcg	p.P235S	LILRA5_uc002qff.3_Missense_Mutation_p.P223S|LILRA5_uc010yev.2_Missense_Mutation_p.P235S|LILRA5_uc010yew.2_Missense_Mutation_p.P223S|LILRA5_uc002qfg.1_Missense_Mutation_p.P235S|LILRA5_uc002qfh.1_Missense_Mutation_p.P223S	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	235					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTGAGACCGGAATCTCCAGG	0.567000														80			36		0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27361019	27361019	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27361019G>A	uc002rjb.2	-	2	759	c.179C>T	c.(178-180)tCc>tTc	p.S60F	C2orf53_uc021vfb.1_Missense_Mutation_p.S60F	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	60	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAGGGGAGGAGGGACGACG	0.572000														28			7		0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55658779	55658779	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55658779G>A	uc010rip.2	+	6	1122	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	TRIM51_uc010riq.2_Missense_Mutation_p.E201K	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	344	B30.2/SPRY.					intracellular	zinc ion binding										ATATTATTGGGAGGTTCATAT	0.433000														143			56		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148669	34148669	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:34148669C>T	uc004ddg.3	-	0	1779	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	576								p.R576Q(4)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTAGGATGCTCGAATCTTGGG	0.512000														30			15		0	0	1	0	0
SPRY2	10253	broad.mit.edu	37	13	80911411	80911411	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:80911411G>A	uc001vli.3	-	1	1408	c.430C>T	c.(430-432)Cct>Tct	p.P144S	SPRY2_uc001vlj.3_Missense_Mutation_p.P144S|SPRY2_uc021rkz.1_Missense_Mutation_p.P144S	NM_005842	NP_005833	O43597	SPY2_HUMAN	Homo sapiens sprouty homolog 2 (Drosophila) (SPRY2), mRNA.	144					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		TCAGCAACAGGCCCGGAGGAG	0.562000														57			21		0	0	1	0	0
RDBP	7936	broad.mit.edu	37	6	31921902	31921902	+	Silent	SNP	G	A	A	rs141063076		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31921902G>A	uc003nyk.3	-	8	1101	c.897C>T	c.(895-897)ttC>ttT	p.F299F	RDBP_uc011dot.2_Silent_p.F269F	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	299	RRM.				positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						CATAGGTGACGAAGGCACAGC	0.527000														30			11		0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37831637	37831637	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:37831637G>A	uc011byb.1	+	1	206	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	PGM2_uc011bya.1_5'UTR|PGM2_uc011byc.1_5'UTR	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	Homo sapiens phosphoglucomutase 2 (PGM2), mRNA.	45					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						AGGTAATAAAGAAGAACTACG	0.418000														61			30		0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33399952	33399952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33399952C>T	uc011dri.2	+	3	505	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	SYNGAP1_uc003oeo.1_Missense_Mutation_p.R89C|SYNGAP1_uc010juy.3_Missense_Mutation_p.R89C	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	104					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCACTTGGGTCGCTCGAGGAG	0.632000														35			16		0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852271	97852271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:97852271C>T	uc011bgt.2	+	0	730	c.730C>T	c.(730-732)Cat>Tat	p.H244Y		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CTGTGGAGCCCATCTCTTCTC	0.408000														127			50		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48288033	48288033	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48288033C>T	uc003toq.2	+	13	1881	c.1857C>T	c.(1855-1857)gtC>gtT	p.V619V	ABCA13_uc010kyr.2_Silent_p.V122V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	619					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACCAGCTTGTCTCCACAGTGT	0.443000														124			65		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72889564	72889564	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:72889564G>A	uc003pga.3	+	4	835	c.758G>A	c.(757-759)gGg>gAg	p.G253E	RIMS1_uc011dyb.2_5'Flank|RIMS1_uc003pgc.3_5'Flank|RIMS1_uc003pgb.4_5'Flank	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	253					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAAGCCTTGGGGCCTGAACAG	0.557000														18			10		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107590	168107590	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:168107590C>T	uc002udx.3	+	8	9777	c.9688C>T	c.(9688-9690)Cgt>Tgt	p.R3230C	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R3055C|XIRP2_uc010fpq.3_Missense_Mutation_p.R3008C|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3055					actin cytoskeleton organization	cell junction	actin binding	p.R3230P(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATAGAAACTCGTGGTAGGGA	0.448000														74			30		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233137405	233137405	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233137405G>A	uc001hvl.2	-	28	5210	c.4975C>T	c.(4975-4977)Ctc>Ttc	p.L1659F	PCNXL2_uc001hvk.1_Missense_Mutation_p.L311F|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1659						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)				AGGACATGGAGGCCATACAGG	0.433000														11			5		0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	239990240	239990240	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:239990240G>A	uc002vyk.4	-	22	3591	c.2799C>T	c.(2797-2799)ttC>ttT	p.F933F	HDAC4_uc010fyy.3_Silent_p.F890F	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	933	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCACGGCATCGAAGCCTGATG	0.597000														67			8		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815940	43815940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43815940G>A	uc001zrt.3	+	3	2736	c.2269G>A	c.(2269-2271)Gat>Aat	p.D757N		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	757						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAGATCCATGATGAGCCGGA	0.562000														28			10		0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42513902	42513902	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:42513902G>A	uc002igw.2	-	3	424	c.205C>T	c.(205-207)Ccc>Tcc	p.P69S	GPATCH8_uc002igv.2_5'UTR|GPATCH8_uc010wiz.2_5'UTR	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	69	G-patch.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATTGGAATGGGATCTGTTCTC	0.403000														31			14		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174649	207174649	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:207174649G>A	uc002vbp.2	+	4	5647	c.5397G>A	c.(5395-5397)agG>agA	p.R1799R		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1799							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTCTGTAAGGAACCTGAAAA	0.408000														53			7		0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32089086	32089086	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32089086G>A	uc003nzn.3	-	5	551	c.518C>T	c.(517-519)tCc>tTc	p.S173F	ATF6B_uc003nzo.3_Missense_Mutation_p.S170F|ATF6B_uc003nzp.1_5'Flank|ATF6B_uc011dpg.2_Missense_Mutation_p.S107F|ATF6B_uc011dph.2_Missense_Mutation_p.S173F	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	173					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						AGAGTTGACGGAAGAACATGG	0.537000														21			9		0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532957	113532957	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113532957C>T	uc001tuk.1	+	6	1833	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	499					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.G498G(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TGCCCGGCTTCCCTGATACCC	0.652000														82			21		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610048	47610048	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47610048G>A	uc001cqv.1	+	6	861	c.810G>A	c.(808-810)agG>agA	p.R270R	CYP4A22_uc009vyo.3_Silent_p.R270R|CYP4A22_uc009vyp.3_Missense_Mutation_p.E219K	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	270						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCAACTGAGGAAGGCTCAAC	0.542000														118			23		0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29368177	29368177	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29368177G>A	uc002rmv.3	+	7	1204	c.965G>A	c.(964-966)gGa>gAa	p.G322E	CLIP4_uc002rmu.3_Missense_Mutation_p.G322E|CLIP4_uc010ezm.1_Missense_Mutation_p.G322E|CLIP4_uc002rmw.3_Non-coding_Transcript|CLIP4_uc010ymn.1_Missense_Mutation_p.G304E	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	322	CAP-Gly 1.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GAACCAGAAGGAAAAAATAAT	0.348000														68			17		0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918200	15918200	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15918200G>A	uc002nbq.2	-	0	737	c.648C>T	c.(646-648)ctC>ctT	p.L216L		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L216P(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CATAGGAGAGGAGGATGAGGA	0.577000														66			21		0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90485726	90485726	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:90485726C>T	uc001xxy.3	+	14	1907	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Silent_p.S536S|TDP1_uc010atn.3_Silent_p.S536S|TDP1_uc001xya.3_Silent_p.S297S|TDP1_uc001xyb.3_Non-coding_Transcript|TDP1_uc001xyd.1_Silent_p.S151S	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	536					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGATCCGCTCCTACGAGCTCG	0.522000								Repair of DNA-protein crosslinks						46			10		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120996131	120996131	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:120996131C>T	uc010rzo.2	+	6	1324	c.1324C>T	c.(1324-1326)Cag>Tag	p.Q442*		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	442	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTTTGATGGCCAGCACTACGC	0.483000														390			91		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23191528	23191528	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:23191528G>A	uc009vqj.1	+	4	1271	c.1126G>A	c.(1126-1128)Ggg>Agg	p.G376R	EPHB2_uc001bge.3_Missense_Mutation_p.G376R|EPHB2_uc001bgf.3_Missense_Mutation_p.G376R|EPHB2_uc010odu.2_Missense_Mutation_p.G376R|MIR4253_uc021oic.1_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	376	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CACCCGCTGCGGGGACAATGT	0.637000														85			39		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54586243	54586243	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54586243G>A	uc021smr.1	+	8	3963	c.3963G>A	c.(3961-3963)atG>atA	p.M1321I	UNC13C_uc021sms.1_Missense_Mutation_p.M1323I|UNC13C_uc002acl.3_Missense_Mutation_p.M153I	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1323					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G1321*(1)		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)		GTGGAGAAATGGATGTCTGGT	0.343000														228			19		0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847058	7847058	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7847058C>T	uc010rbg.2	-	0	462	c.462G>A	c.(460-462)gtG>gtA	p.V154V		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCAAGCATTCACACATCCAC	0.473000														70			36		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265791	10265791	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10265791G>A	uc002gmk.1	-	3	324	c.234C>T	c.(232-234)ttC>ttT	p.F78F		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	78	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGTTCATGGGGAAGACCTGGT	0.483000														83			47		0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6529206	6529206	+	Silent	SNP	C	T	T	rs79066520	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6529206C>T	uc001anp.1	-	19	2874	c.2376G>A	c.(2374-2376)gaG>gaA	p.E792E	PLEKHG5_uc001ann.1_Silent_p.E752E|PLEKHG5_uc001ano.1_Silent_p.E771E|PLEKHG5_uc001anq.1_Silent_p.E792E|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Silent_p.E276E|PLEKHG5_uc009vma.1_Silent_p.E555E|PLEKHG5_uc010nzr.1_Silent_p.E784E|PLEKHG5_uc001ank.1_Silent_p.E715E|PLEKHG5_uc009vmb.1_Silent_p.E715E|PLEKHG5_uc001anl.1_Silent_p.E715E|PLEKHG5_uc001anm.1_Silent_p.E715E	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	771					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		cctcctcctcctcttcctcct	0.637000														72			17		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559002	140559002	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140559002G>A	uc011dai.2	+	0	1632	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	463	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R462R(1)|p.R462P(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGTCCGCGAGAACAACAG	0.627000														323			85		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52603784	52603784	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:52603784G>A	uc001jjj.3	-	3	386	c.198C>T	c.(196-198)gaC>gaT	p.D66D	A1CF_uc010qho.2_Silent_p.D74D|A1CF_uc010qhn.2_Silent_p.D74D|A1CF_uc009xov.3_Silent_p.D66D|A1CF_uc001jji.3_Silent_p.D66D|A1CF_uc001jjh.3_Silent_p.D74D|A1CF_uc001jjk.1_Silent_p.D66D	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	66	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCTCAAAAAGGTCTCGGGGAA	0.393000														155			46		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668167	53668167	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53668167G>A	uc010eqm.1	-	3	1676	c.1576C>T	c.(1576-1578)Cat>Tat	p.H526Y		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AGGCTTGAATGAACACTAAAG	0.388000														127			44		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149227972	149227972	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:149227972C>T	uc002twm.4	+	8	3457	c.2460C>T	c.(2458-2460)tcC>tcT	p.S820S	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_Silent_p.S261S	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	820						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAACGTCCTCCACTCCAGTGA	0.428000														90			27		0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30381660	30381660	+	Missense_Mutation	SNP	G	A	A	rs61754553	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30381660G>A	uc002wwp.1	+	13	2217	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	TPX2_uc010gdv.1_Missense_Mutation_p.E543K	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	507					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GGAAGAGGACGAACCGGTAGT	0.433000														214			87		0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48953984	48953984	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:48953984C>T	uc002pjd.2	+	4	977	c.744C>T	c.(742-744)ggC>ggT	p.G248G		NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	Homo sapiens glutamate-rich WD repeat containing 1 (GRWD1), mRNA.	248						nucleolus		p.G247F(1)|p.G247V(1)|p.G247C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		CGGACGGCGGCTCCTGGCACG	0.637000														25			12		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990456	47990456	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:47990456G>A	uc002xur.1	-	1	1807	c.1641C>T	c.(1639-1641)acC>acT	p.T547T	KCNB1_uc002xus.1_Silent_p.T547T	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	547					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGACTCCTTGGTATTGAGGA	0.517000														195			75		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71747977	71747977	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71747977G>A	uc010fen.3	+	11	1233	c.1092G>A	c.(1090-1092)ggG>ggA	p.G364G	DYSF_uc010fei.3_Silent_p.G363G|DYSF_uc010feh.3_Silent_p.G332G|DYSF_uc002sig.4_Silent_p.G332G|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.G363G|DYSF_uc010fee.3_Silent_p.G332G|DYSF_uc010fef.3_Silent_p.G363G|DYSF_uc002sie.3_Silent_p.G332G|DYSF_uc010feo.3_Silent_p.G364G|DYSF_uc010fej.3_Silent_p.G333G|DYSF_uc010fel.3_Silent_p.G333G|DYSF_uc010fem.3_Silent_p.G333G|DYSF_uc002sif.3_Silent_p.G333G|DYSF_uc010fek.3_Silent_p.G364G	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	332						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCTCTGCTGGGGCCAGAGGCT	0.572000														92			27		0	0	1	0	0
SPP2	6694	broad.mit.edu	37	2	234975199	234975199	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234975199G>A	uc002vvk.1	+	4	552	c.467G>A	c.(466-468)gGa>gAa	p.G156E	SPP2_uc010fyl.1_Missense_Mutation_p.G76E	NM_006944	NP_008875	Q13103	SPP24_HUMAN	Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.	156					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	p.L155F(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GACATGTTGGGATCTCATAAA	0.308000														105			42		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107408046	107408046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107408046C>T	uc003ver.2	-	19	2460	c.2249G>A	c.(2248-2250)gGa>gAa	p.G750E	SLC26A3_uc003ves.2_Missense_Mutation_p.G637E	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	750					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATTACGTAATCCTCCATTTGT	0.333000														26			13		0	0	1	0	0
RRP9	9136	broad.mit.edu	37	3	51969369	51969369	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:51969369G>A	uc003dbw.1	-	9	999	c.960C>T	c.(958-960)ttC>ttT	p.F320F		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	320					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		GGTGGCCATAGAAGACAAGCT	0.652000														26			15		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400585	89400585	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89400585C>T	uc010upo.1	+	11	5143	c.4769C>T	c.(4768-4770)cCt>cTt	p.P1590L	ACAN_uc010upp.1_Missense_Mutation_p.P1590L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1590					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)			AGTGGGTTGCCTTCTGGAAAA	0.532000														154			15		0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203630246	203630246	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:203630246C>T	uc010zhx.2	+	7	1539	c.1529C>T	c.(1528-1530)tCt>tTt	p.S510F		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	510										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						AAAAGTGGATCTGCTTTCTGC	0.483000														159			37		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5798909	5798909	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5798909C>T	uc010qzn.2	-	0	989	c.956G>A	c.(955-957)gGt>gAt	p.G319D	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACCCTTATCACCCTGGAAGAA	0.343000														25			40		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140756085	140756085	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140756085T>A	uc011dau.2	+	0	2435	c.2435T>A	c.(2434-2436)tTt>tAt	p.F812Y	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron	NM_032086	NP_114475	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 2, mRNA.	0					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)			GTGAGTTTCTTTCCGCCTAAG	0.463000														39			12		0	0	1	0	0
RFC3	5983	broad.mit.edu	37	13	34409298	34409298	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:34409298C>T	uc001uuz.3	+	7	933	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	RFC3_uc001uva.3_Missense_Mutation_p.R275C|RFC3_uc010ted.1_Missense_Mutation_p.R275C	NM_002915	NP_002906	P40938	RFC3_HUMAN	Homo sapiens replication factor C (activator 1) 3, 38kDa (RFC3), transcript variant 1, mRNA.	275					DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|response to organophosphorus|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		CCTTGAAGTTCGTGGAAGGCT	0.313000														76			13		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919520	4919520	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4919520C>T	uc001qng.3	+	0	1179	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	KCNA6_uc021qtr.1_Missense_Mutation_p.R105C	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	105						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GTCTGGGGGCCGCCTGCGGAG	0.657000										HNSCC(72;0.22)				68			45		0	0	1	0	0
SPACA1	81833	broad.mit.edu	37	6	88757792	88757792	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:88757792G>A	uc003pmn.3	+	0	286	c.169G>A	c.(169-171)Gag>Aag	p.E57K		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	57						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		CAACGACAGCGAGACCGCGGA	0.692000														3			8		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44932910	44932910	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44932910C>T	uc002oze.1	-	5	2480	c.2046G>A	c.(2044-2046)aaG>aaA	p.K682K	ZNF229_uc010ejk.1_Silent_p.K336K|ZNF229_uc010ejl.1_Silent_p.K676K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	682					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ACGTATAGGGCTTTTTTCCCG	0.502000														117			47		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23716293	23716293	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23716293G>A	uc002dma.4	-	7	1078	c.909C>T	c.(907-909)ttC>ttT	p.F303F	ERN2_uc010bxp.3_Silent_p.F303F|ERN2_uc010bxq.1_Silent_p.F111F	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	255					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GGAGGGCGAGGAAATGCAGAG	0.662000														66			15		0	0	1	0	0
MYL3	4634	broad.mit.edu	37	3	46899877	46899877	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46899877C>T	uc003cql.1	-	4	649	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K		NM_000258	NP_000249	P08590	MYL3_HUMAN	Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA.	186	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|I band|cytosol|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		AGCCCACCTTCATAGTTGATG	0.602000														62			15		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37536457	37536457	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:37536457G>A	uc002xje.3	+	8	1096	c.907G>A	c.(907-909)Gag>Aag	p.E303K	PPP1R16B_uc010ggc.3_Missense_Mutation_p.E261K	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	303					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGACCTGTGCGAGGAGGAAGA	0.592000														58			32		0	0	1	0	0
F2RL3	9002	broad.mit.edu	37	19	17001309	17001309	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17001309C>T	uc002nfa.3	+	1	1210	c.1035C>T	c.(1033-1035)gcC>gcT	p.A345A		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.	345					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ACGTGTCGGCCGAGTTCAGGG	0.672000														31			6		0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34863731	34863731	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:34863731G>A	uc010wcy.2	-	15	2256	c.1264C>T	c.(1264-1266)Cct>Tct	p.P422S	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.P422S|MYO19_uc010wcz.1_Non-coding_Transcript	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	422	Myosin head-like.					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTGTTGTCAGGAAATGATTCA	0.537000														28			7		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119583407	119583407	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:119583407G>A	uc001txa.2	+	8	1381	c.993G>A	c.(991-993)ggG>ggA	p.G331G		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	331	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding	p.G331fs*37(3)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CTGATTCAGGGAACTCCTTCA	0.612000														20			4		0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44470696	44470696	+	Missense_Mutation	SNP	C	T	T	rs150319141	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44470696C>T	uc002oxx.2	+	5	1370	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	ZNF221_uc010ejb.1_Missense_Mutation_p.R348C|ZNF221_uc010xws.1_Missense_Mutation_p.R348C	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	Homo sapiens zinc finger protein 221 (ZNF221), mRNA.	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CAAGAACTTTCGTCAGAGATC	0.408000														190			37		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119942902	119942902	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:119942902G>A	uc001txe.3	+	6	1142	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	226										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCCACAATGCGAGTCACCAAC	0.517000														116			30		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933907	44933907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44933907C>T	uc002oze.1	-	5	1483	c.1049G>A	c.(1048-1050)aGa>aAa	p.R350K	ZNF229_uc010ejk.1_Missense_Mutation_p.R4K|ZNF229_uc010ejl.1_Missense_Mutation_p.R344K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GACATCACATCTATAGGGCAT	0.507000														124			12		0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48073536	48073536	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:48073536C>T	uc003gxx.4	-	13	1599	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	TXK_uc010igj.3_Non-coding_Transcript|TXK_uc011bzj.2_Missense_Mutation_p.E192K	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	505	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						ATGCTTACCTCATGCCAGCAG	0.453000														98			56		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133150166	133150166	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133150166C>T	uc003ytj.3	-	11	1891	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N	KCNQ3_uc003yti.3_Missense_Mutation_p.D436N|KCNQ3_uc010mdt.3_Missense_Mutation_p.D556N	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	556					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.L555L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GAAAGCATGTCGAGATGCCCG	0.453000														104			20		0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54429267	54429267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:54429267G>A	uc003jpo.2	-	5	847	c.670C>T	c.(670-672)Cat>Tat	p.H224Y	CDC20B_uc003jpn.2_Missense_Mutation_p.H224Y|CDC20B_uc010ivu.2_Missense_Mutation_p.H224Y|CDC20B_uc010ivv.2_Missense_Mutation_p.H224Y	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	224										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CCAGTAATATGAATCTTCACC	0.363000														109			31		0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5489039	5489039	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:5489039G>A	uc002kmt.1	-	1	230	c.144C>T	c.(142-144)ttC>ttT	p.F48F	EPB41L3_uc010wzh.1_Silent_p.F48F|EPB41L3_uc002kmu.1_Silent_p.F48F|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Silent_p.F70F|EPB41L3_uc002kmv.1_5'UTR	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	48					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CAGCGGCGGCGAACTGCTCCA	0.721000														30			10		0	0	1	0	0
ANP32AP1	723972	broad.mit.edu	37	15	35529621	35529621	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:35529621G>A	uc001ziy.3	+	0		c.95G>A								Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1 (ANP32AP1), non-coding RNA.																		TCGAATGAAGGCAAACTCGAA	0.473000														143			63		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24433686	24433686	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24433686C>T	uc001bin.4	-	3	442	c.279G>A	c.(277-279)gaG>gaA	p.E93E	MYOM3_uc001bio.3_Silent_p.E93E|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	93										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCTCCTCCAGCTCCACGGCAG	0.687000														14			4		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16282772	16282772	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:16282772C>T	uc002den.4	-	12	1732	c.1695G>A	c.(1693-1695)gaG>gaA	p.E565E	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Silent_p.E577E	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	565	ABC transmembrane type-1 1.				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)		CAAAGGCTTTCTCTGCATTCA	0.582000														46			17		0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44468071	44468071	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44468071G>A	uc001cll.3	-	7	1287	c.1095C>T	c.(1093-1095)gcC>gcT	p.A365A	SLC6A9_uc009vxe.2_Silent_p.A221A|SLC6A9_uc010okm.1_Silent_p.A292A|SLC6A9_uc001clm.3_Silent_p.A311A|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.A296A|SLC6A9_uc010oko.2_Silent_p.A181A|SLC6A9_uc001cln.3_Silent_p.A292A|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	365						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AGATCTGGGAGGCAGCATCAC	0.627000														98			14		0	0	1	0	0
TCR-_alpha_V_33.1	0	broad.mit.edu	37	14	22783078	22783078	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22783078G>A	uc001wdq.2	+	2	81	c.74_splice	c.e2-1	p.G25_splice	TCRA_uc001wbw.2_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_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 40, partial cds, clone: un 107.																		CCCCCTACAGGAGGAACCAGC	0.408000														24			19		0	0	1	0	0
PBX4	80714	broad.mit.edu	37	19	19681534	19681534	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19681534C>T	uc002nmy.3	-	2	589	c.302G>A	c.(301-303)aGa>aAa	p.R101K	PBX4_uc010xra.2_5'UTR|PBX4_uc010xqz.2_Non-coding_Transcript	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 4 (PBX4), transcript variant 1, mRNA.	101							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CGCTCCTCCTCTTCCTCTCTT	0.597000														70			26		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23792369	23792369	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:23792369C>T	uc003sws.4	+	8	1118	c.1051C>T	c.(1051-1053)Cac>Tac	p.H351Y	STK31_uc003swt.4_Missense_Mutation_p.H328Y|STK31_uc011jze.2_Missense_Mutation_p.H351Y|STK31_uc010kuq.3_Missense_Mutation_p.H328Y	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	351							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTGACTAACCACTTAGAATA	0.353000														58			18		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52927008	52927008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:52927008C>T	uc003gzl.3	+	2	532	c.254C>T	c.(253-255)tCc>tTc	p.S85F	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.S85F|SPATA18_uc003gzk.1_Missense_Mutation_p.S85F	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	85					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CTGGAGGCTTCCTTTACTGCT	0.478000														56			29		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20782849	20782849	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:20782849C>T	uc001reh.2	+	5	1588	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L	PDE3A_uc021qwa.1_Silent_p.L194L	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	516					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CAGGTGCCCTCGCTAAAATTT	0.438000														85			33		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612290	16612290	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:16612290G>A	uc002gqk.1	+	4	995	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	CCDC144A_uc002gql.1_Intron|CCDC144A_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	307																	TGAAATTTATGAAAAATACAA	0.338000														38			22		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43594369	43594369	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:43594369G>A	uc003tid.1	+	28	5294	c.4689G>A	c.(4687-4689)ggG>ggA	p.G1563G	HECW1_uc011kbi.1_Silent_p.G1529G	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1563	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.G1542G(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGAAATGGGGGAAAATTACTT	0.527000														24			4		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38485983	38485983	+	Missense_Mutation	SNP	C	T	T	rs143995164		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38485983C>T	uc010ive.1	-	16	2767	c.2435G>A	c.(2434-2436)cGa>cAa	p.R812Q	LIFR_uc003jli.2_Missense_Mutation_p.R812Q	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	812	Fibronectin type-III 6.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.R812Q(3)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGTATAGGCTCGCAAGACCAG	0.433000			T	PLAG1	salivary adenoma									63			21		0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113803686	113803686	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113803686G>A	uc001pok.3	+	5	705	c.567G>A	c.(565-567)agG>agA	p.R189R	HTR3B_uc001pol.3_Silent_p.R178R	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	189					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	p.L188L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CCTTTCTGAGGAGCCCAGAAG	0.483000														48			21		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69665943	69665943	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:69665943C>T	uc010kak.3	+	5	1499	c.1223C>T	c.(1222-1224)tCg>tTg	p.S408L	BAI3_uc003pev.4_Missense_Mutation_p.S408L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	408	TSP type-1 3.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S407N(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGTGGAGTTCGTGGAGCCAG	0.527000														30			13		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111158883	111158883	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:111158883G>A	uc001vqx.3	+	45	4813	c.4524G>A	c.(4522-4524)atG>atA	p.M1508I		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1508	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGTGGGCATGAACAAACTCT	0.657000														15			12		0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5730807	5730807	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5730807C>T	uc001mbr.3	+	7	1805	c.1426C>T	c.(1426-1428)Cga>Tga	p.R476*	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Nonsense_Mutation_p.R304*|TRIM22_uc009yes.3_Nonsense_Mutation_p.R472*|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	476	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCGCTTTTCTCGACCTGCTTA	0.473000														176			53		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768823	57768823	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:57768823C>T	uc002yan.3	+	0	2749	c.2749C>T	c.(2749-2751)Ccc>Tcc	p.P917S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	917						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGCAGAGCACCCCTCGCTGGC	0.632000														46			22		0	0	1	0	0
GPR1	2825	broad.mit.edu	37	2	207041526	207041526	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:207041526C>T	uc021vvl.1	-	0	446	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	GPR1_uc002vbl.4_Missense_Mutation_p.R149Q|GPR1_uc010fue.3_Missense_Mutation_p.R149Q|GPR1_uc010fuf.3_Missense_Mutation_p.R149Q	NM_005279	NP_005270	P46091	GPR1_HUMAN	Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.	149						integral to plasma membrane	G-protein coupled receptor activity	p.H148Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CTTGAGGGTTCGATGCCGATG	0.463000														86			35		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323636	79323636	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:79323636A>T	uc010mpk.3	-	7	3678	c.3554T>A	c.(3553-3555)gTa>gAa	p.V1185E	PRUNE2_uc022bih.1_Missense_Mutation_p.V1007E	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1185					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCCCAATCTACCTGATTTGC	0.498000														68			19		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1268709	1268709	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1268709G>T	uc003jcb.1	-	8	2566	c.2508C>A	c.(2506-2508)atC>atA	p.I836I	TERT_uc003jbz.1_Silent_p.I32I|TERT_uc003jcc.1_Silent_p.I836I|TERT_uc003jca.1_Silent_p.I824I|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_5'UTR	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	836	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCGTGGAGAGGATGGAGCCCT	0.652000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					41			12		0.00316338	0.00316539	1	1	0
MTMR11	10903	broad.mit.edu	37	1	149906993	149906993	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:149906993G>A	uc001etl.4	-	4	605	c.354C>T	c.(352-354)ctC>ctT	p.L118L	MTMR11_uc001etm.2_Silent_p.L46L|MTMR11_uc010pbm.1_Silent_p.L90L|MTMR11_uc010pbn.1_5'UTR	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	118							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ACCCTGGACGGAGGAGCTGGA	0.547000														87			28		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48370707	48370707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48370707G>A	uc001jex.3	+	1	337	c.175G>A	c.(175-177)Gag>Aag	p.E59K	ZNF488_uc021ppx.1_Missense_Mutation_p.E59K	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CCTGGGCCCTGAGGCTGCTGT	0.677000														45			22		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94481369	94481369	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94481369G>A	uc001dqh.3	-	36	5342	c.5238C>T	c.(5236-5238)ttC>ttT	p.F1746F	ABCA4_uc009wdp.1_Silent_p.F14F	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1746					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)		GAAACCCGATGAAGATGCCCA	0.517000														27			6		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2716282	2716283	+	Missense_Mutation	DNP	CG	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2716282_2716283CG>TA	uc009zdu.1	+	26	3715_3716	c.3402_3403CG>TA	c.(3400-3405)ttcgaa>ttTAaa	p.E1135K	CACNA1C_uc001qkc.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qke.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E1115K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E1115K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E1135K|CACNA1C_uc001qkj.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkk.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkm.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qko.2_Missense_Mutation_p.E1135K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qku.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qks.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E1115K|CACNA1C_uc009zdv.1_Missense_Mutation_p.E1112K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E1115K|CACNA1C_uc001qka.1_Missense_Mutation_p.E650K|CACNA1C_uc001qki.1_Missense_Mutation_p.E851K	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1135	Dihydropyridine binding (By similarity).	Calcium ion selectivity and permeability.			axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCTCCACCTTCGAAGGGTGGCC	0.540000														18			6		0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54606840	54606840	+	Missense_Mutation	SNP	C	T	T	rs141787724		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:54606840C>T	uc001cwv.1	-	2	1542	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	232	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						ACCTGCAGTTCGTGGCCCAGA	0.637000														61			18		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719833	50719833	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50719833G>A	uc003bkv.4	-	21	3711	c.3618C>T	c.(3616-3618)atC>atT	p.I1206I	PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Silent_p.I191I	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1206					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCATGGGCACGATGACCAGCG	0.677000														19			6		0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54326282	54326282	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:54326282C>T	uc003jpl.1	+	2	277	c.233C>T	c.(232-234)cCc>cTc	p.P78L		NM_002104	NP_002095	P49863	GRAK_HUMAN	Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.	78	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GGCCAGTCTCCCACTGTGGTT	0.438000														110			36		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75708675	75708675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75708675C>T	uc010oqz.1	-	6	550	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	SLC44A5_uc001dgt.2_Missense_Mutation_p.E123K|SLC44A5_uc001dgs.2_Missense_Mutation_p.E81K|SLC44A5_uc001dgr.2_Missense_Mutation_p.E81K|SLC44A5_uc001dgu.3_Missense_Mutation_p.E123K|SLC44A5_uc010ora.2_Missense_Mutation_p.E117K|SLC44A5_uc010orb.2_5'UTR	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	123						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AAAAATTTTTCTGGGCACTTG	0.398000														106			7		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211541795	211541795	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:211541795C>T	uc010fur.3	+	37	4439	c.4357C>T	c.(4357-4359)Cat>Tat	p.H1453Y	CPS1_uc002vee.4_Missense_Mutation_p.H1447Y|CPS1_uc010fus.3_Missense_Mutation_p.H996Y	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1447			R -> Q (in CPS1D; the enzyme is inactive).|R -> W (in CPS1D; the enzyme is inactive).		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.R1453Q(1)|p.H1447D(1)|p.H1453D(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)		TAAATTTGTCCATGATAATTA	0.378000														148			37		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196295998	196295998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:196295998C>T	uc001gtd.1	-	18	2185	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	KCNT2_uc009wyt.1_Intron|KCNT2_uc001gte.1_Missense_Mutation_p.E659K|KCNT2_uc001gtf.1_Missense_Mutation_p.E709K|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.E709K|KCNT2_uc001gth.1_Missense_Mutation_p.E230K	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	709						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTGCATCCTCATAGTAGTTA	0.318000														102			42		0	0	1	0	0
CCDC77	84318	broad.mit.edu	37	12	550076	550076	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:550076C>T	uc001qig.3	+	11	1414	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	CCDC77_uc009zdk.3_Nonsense_Mutation_p.R380*|CCDC77_uc010sdp.2_Nonsense_Mutation_p.R380*|CCDC77_uc010sdq.2_Nonsense_Mutation_p.R380*	NM_032358	NP_001123620	Q9BR77	CCD77_HUMAN	Homo sapiens coiled-coil domain containing 77 (CCDC77), transcript variant 1, mRNA.	412						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			ATTGGAGCGTCGACGTATCCT	0.428000														57			15		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922993	24922993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24922993C>T	uc001ywo.3	+	0	2453	c.1979C>T	c.(1978-1980)tCt>tTt	p.S660F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	660					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)		CAGAAAGCTTCTCTCCCCAGT	0.498000														160			22		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961963	34961963	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:34961963C>T	uc004ddi.2	+	0	1051	c.1015C>T	c.(1015-1017)Cat>Tat	p.H339Y		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	339								p.T338S(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCCCAACACTCATCGGGTGTC	0.587000														16			35		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65252522	65252522	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:65252522C>T	uc001xht.3	-	15	3760	c.3709G>A	c.(3709-3711)Gag>Aag	p.E1237K	SPTB_uc001xhr.3_Missense_Mutation_p.E1237K|SPTB_uc001xhs.3_Missense_Mutation_p.E1237K|SPTB_uc001xhu.3_Missense_Mutation_p.E1237K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1237					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGGTTTCCCTCAGCTACCAGC	0.562000														286			16		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878113	24878113	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24878113C>T	uc001wpf.4	+	3	1431	c.1113C>T	c.(1111-1113)atC>atT	p.I371I		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	371					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCTGGAGGATCAATGAGCTGC	0.607000														12			12		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123848336	123848336	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123848336C>T	uc001pzm.1	-	0	63	c.63G>A	c.(61-63)gtG>gtA	p.V21V		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGTGGCTCACCACAGTCTGGT	0.488000														76			31		0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231222521	231222521	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:231222521C>T	uc010fxm.1	+	3	199	c.108_splice	c.e3-1	p.R36_splice	SP140_uc010zma.1_Splice_Site|SP140L_uc010fxn.2_Splice_Site	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	36	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TTTCCTTAGGCTGTTCACGGA	0.373000														182			53		0	0	1	0	0
ADAD2	161931	broad.mit.edu	37	16	84224922	84224922	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84224922C>T	uc002fhq.2	+	0	200	c.86C>T	c.(85-87)cCc>cTc	p.P29L	ADAD2_uc002fhr.2_Missense_Mutation_p.P29L	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	29					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGCCCCCAGCCCCGCCCCTGG	0.736000														9			7		0	0	1	0	0
SNX8	29886	broad.mit.edu	37	7	2317866	2317866	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:2317866G>A	uc003slw.3	-	1	212	c.169C>T	c.(169-171)Ccg>Tcg	p.P57S		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	Homo sapiens sorting nexin 8 (SNX8), mRNA.	57					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		TTCCCCTGCGGCATCTGCATT	0.652000														45			20		0	0	1	0	0
HMGCR	3156	broad.mit.edu	37	5	74655281	74655281	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:74655281C>T	uc011cst.2	+	17	2669	c.2417C>T	c.(2416-2418)cCc>cTc	p.P806L	HMGCR_uc003kdp.3_Missense_Mutation_p.P786L|HMGCR_uc003kdq.3_Missense_Mutation_p.P733L|HMGCR_uc010izo.3_Intron|HMGCR_uc010izp.3_Intron	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	786	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GCAAGTGGTCCCACAAATGAA	0.403000														74			11		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102992208	102992208	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102992208C>T	uc001phn.1	+	9	1612	c.1468C>T	c.(1468-1470)Cgc>Tgc	p.R490C	DYNC2H1_uc009yxe.1_Missense_Mutation_p.R490C|DYNC2H1_uc001pho.2_Missense_Mutation_p.R490C	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	490	Stem (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)		AGTTTGGGTTCGCCAGTTGGA	0.368000														61			22		0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63488441	63488441	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:63488441C>G	uc004dvs.3	-	13	2181	c.2091G>C	c.(2089-2091)gaG>gaC	p.E697D	MTMR8_uc011mou.2_Intron	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	697						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGTAGTCTGCCTCCTTGGTGC	0.522000														19			23		0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204043	9204043	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9204043G>A	uc010xkj.2	+	0	123	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGGTCGTGGGGAACCTGCTCA	0.537000														100			37		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897586	36897586	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36897586G>A	uc003cgj.3	-	11	3743	c.3495C>T	c.(3493-3495)ttC>ttT	p.F1165F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1165					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAAGCTCAATGAAATTCCTTT	0.483000														117			54		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91348352	91348352	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:91348352G>A	uc001tbj.3	-	0	602	c.168C>T	c.(166-168)ccC>ccT	p.P56P		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	56										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						ACTCGGTCTTGGGGCTATATC	0.642000														28			10		0	0	1	0	0
PIP	5304	broad.mit.edu	37	7	142836687	142836687	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142836687C>T	uc003wcf.1	+	3	429	c.393C>T	c.(391-393)ccC>ccT	p.P131P		NM_002652	NP_002643	P12273	PIP_HUMAN	Homo sapiens prolactin-induced protein (PIP), mRNA.	131						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CTGTAATCCCCATCAAAAACA	0.438000														187			66		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473712	19473712	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:19473712C>T	uc003jgd.3	-	12	2530	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.E666K|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	666					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTGTGTCTTCCTCTCCGCCT	0.507000														145			51		0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30432527	30432527	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30432527G>A	uc002wwt.1	-	0	894	c.819C>T	c.(817-819)gcC>gcT	p.A273A		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	273					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA 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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CAGGGGAGGGGGCTGCTGAGG	0.652000														16			9		0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54373514	54373514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	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														81			30		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082977	9082977	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9082977C>T	uc002mkp.3	-	0	9042	c.8838G>A	c.(8836-8838)aaG>aaA	p.K2946K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2947	Ser-rich.|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						CACTTATGGCCTTTGTGGAAG	0.498000														66			24		0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7374329	7374329	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7374329C>T	uc003mxl.2	-	4	1254	c.723G>A	c.(721-723)ggG>ggA	p.G241G	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Silent_p.G105G|CAGE1_uc003mxj.3_5'UTR|CAGE1_uc003mxk.2_Silent_p.G241G	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	241										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CAGGAATCTCCCCATAATTCT	0.398000														125			33		0	0	1	0	0
DHRS2	10202	broad.mit.edu	37	14	24108541	24108541	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24108541G>A	uc001wkt.4	+	2	741	c.294G>A	c.(292-294)gaG>gaA	p.E98E	DHRS2_uc010aku.1_Silent_p.E98E|DHRS2_uc001wku.4_Silent_p.E98E|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	76					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GGAAGGCTGAGGACCGGGAGC	0.652000														37			11		0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76089072	76089072	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76089072C>T	uc002jud.2	+	15	4629	c.4029C>T	c.(4027-4029)tcC>tcT	p.S1343S	TNRC6C_uc002juf.2_Silent_p.S1340S	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1343					gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TTGATGACTCCTATGGCCGGT	0.498000														36			13		0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784745	30784745	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30784745G>A	uc002wxn.2	-	2	1218	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	334						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S333C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTGAGCTGGGGAAGAGATAGG	0.557000														143			14		0	0	1	0	0
APBB3	10307	broad.mit.edu	37	5	139942061	139942061	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:139942061G>A	uc021yeh.1	-	4	734	c.375C>T	c.(373-375)ggC>ggT	p.G125G	APBB3_uc003lgb.1_5'UTR|APBB3_uc003lgc.1_5'UTR|APBB3_uc003lgd.1_Silent_p.G125G|APBB3_uc010jfp.1_Non-coding_Transcript|APBB3_uc011czi.1_5'UTR|APBB3_uc003lge.1_Silent_p.G125G|APBB3_uc021yeg.1_Silent_p.G125G|APBB3_uc003lgf.1_Non-coding_Transcript|APBB3_uc010jfq.1_5'Flank|SLC35A4_uc003lgg.1_5'Flank|SLC35A4_uc003lgh.1_5'Flank	NM_133173	NP_573419	O95704	APBB3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 3 (APBB3), transcript variant 2, mRNA.	125	PID 1.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTACCCAGCCCAGAGAGC	0.572000														203			70		0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499524	75499524	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:75499524C>T	uc002azp.4	+	1	1455	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	C15orf39_uc002azq.4_Missense_Mutation_p.P379S|C15orf39_uc021sqm.1_Missense_Mutation_p.P138S|C15orf39_uc002azr.4_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	379										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						ACTGAGTTTTCCTTATGCCCG	0.627000														184			150		0	0	1	0	0
LRRC33	375387	broad.mit.edu	37	3	196388524	196388524	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:196388524C>T	uc003fwv.3	+	2	2114	c.2010C>T	c.(2008-2010)atC>atT	p.I670I		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	670						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GCACTGTCATCGTCCTCACTT	0.597000														78			45		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112020521	112020521	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:112020521G>A	uc004bdz.1	-	6	983	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	EPB41L4B_uc004bea.3_Missense_Mutation_p.R230W	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	230	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAATGAACCGAAACTCAGAC	0.443000														65			12		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28971156	28971156	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28971156C>T	uc002kwr.2	+	6	935	c.800C>T	c.(799-801)cCc>cTc	p.P267L	DSG4_uc002kwq.2_Missense_Mutation_p.P267L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	267	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GATAATTTCCCCACCTTAGAG	0.398000														81			20		0	0	1	0	0
CDC34	997	broad.mit.edu	37	19	532077	532078	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:532077_532078CC>TT	uc002lov.3	+	0	345_346	c.146_147CC>TT	c.(145-147)ccc>cTT	p.P49L		NM_004359	NP_004350	P49427	UB2R1_HUMAN	Homo sapiens cell division cycle 34 homolog (S. cerevisiae) (CDC34), mRNA.	49					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TTCGGGCCCCCCAACACCTACT	0.683000														12			3		0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127253129	127253129	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:127253129C>T	uc010lld.1	-	5	844	c.638G>A	c.(637-639)aGa>aAa	p.R213K	PAX4_uc003vmf.2_Missense_Mutation_p.R211K|PAX4_uc003vmg.1_Missense_Mutation_p.R213K|PAX4_uc003vmh.3_Missense_Mutation_p.R211K	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	221					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TTTGGCTCTTCTGTTGGAAAA	0.527000														61			12		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119441727	119441727	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:119441727C>T	uc001ehl.1	-	6	945	c.630G>A	c.(628-630)atG>atA	p.M210I	TBX15_uc009whj.1_Missense_Mutation_p.M1I	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	316						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CATATGTCTCCATGATGGCTT	0.468000														44			18		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53242382	53242382	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53242382C>T	uc001sbc.1	-	0	397	c.333G>A	c.(331-333)gaG>gaA	p.E111E		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	111	Coil 1A.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TCTCCTGGGTCTCCTGCGTCC	0.567000														67			9		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140434525	140434525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:140434525G>A	uc003vwc.4	-	17	2234	c.2173C>T	c.(2173-2175)Cac>Tac	p.H725Y		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	725					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		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)	GCACTGCGGTGAATTTTTGGC	0.393000		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					143			57		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23410745	23410745	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:23410745C>T	uc004dal.4	+	2	1118	c.1110C>T	c.(1108-1110)gaC>gaT	p.D370D		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	370	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TCTATGCAGACTCCATGCTCT	0.468000														42			17		0	0	1	0	0
GNL3L	54552	broad.mit.edu	37	X	54578136	54578136	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:54578136C>T	uc022bxi.1	+	10	1255	c.999C>T	c.(997-999)acC>acT	p.T333T	GNL3L_uc004dti.3_Non-coding_Transcript|GNL3L_uc004dth.2_Silent_p.T333T	NM_001184819	NP_061940	Q9NVN8	GNL3L_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar)-like (GNL3L), transcript variant 1, mRNA.	333					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCCTGTGACCCCAGTGGAGA	0.627000														33			6		0	0	1	0	0
PATZ1	23598	broad.mit.edu	37	22	31740842	31740842	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31740842G>A	uc003akq.3	-	0	1408	c.747C>T	c.(745-747)tcC>tcT	p.S249S	PATZ1_uc003akp.3_Silent_p.S249S|PATZ1_uc003akr.3_Silent_p.S249S|PATZ1_uc003aks.3_Silent_p.S249S|Em:AC005003.4_uc003akt.3_5'Flank	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	Homo sapiens POZ (BTB) and AT hook containing zinc finger 1 (PATZ1), transcript variant 1, mRNA.	249					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						TGGGGAATGGGGAAGTCAGCA	0.642000														35			4		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8637897	8637897	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:8637897C>T	uc002wnb.3	+	7	664	c.661C>T	c.(661-663)Cct>Tct	p.P221S	PLCB1_uc010zrb.1_Missense_Mutation_p.P120S|PLCB1_uc002wna.3_Missense_Mutation_p.P221S|PLCB1_uc002wnc.1_Missense_Mutation_p.P120S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	221				P -> L (in Ref. 2; AAF86613).	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						CAACCTTTGCCCTCGACCTGA	0.393000														131			15		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041375	234041375	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:234041375G>A	uc001hvy.1	+	1	299	c.154G>A	c.(154-156)Gag>Aag	p.E52K		NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GGCGATTAAGGAGGATCTGAA	0.632000														74			24		0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113637901	113637901	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113637901G>A	uc011lwo.2	-	2	900	c.898C>T	c.(898-900)Ctt>Ttt	p.L300F	LPAR1_uc004bfa.3_Missense_Mutation_p.L299F|LPAR1_uc011lwm.2_Missense_Mutation_p.L300F|LPAR1_uc004bfc.3_Missense_Mutation_p.L299F|LPAR1_uc011lwn.2_Missense_Mutation_p.L281F|LPAR1_uc004bfb.3_Missense_Mutation_p.L299F|LPAR1_uc010mub.3_Missense_Mutation_p.L299F	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	299					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AATTCAGCAAGGAGAAGGAAG	0.502000														87			38		0	0	1	0	0
UBE2U	148581	broad.mit.edu	37	1	64671346	64671346	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:64671346G>A	uc001dbn.1	+	1	335	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2U (putative) (UBE2U), mRNA.	31							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						GCCTGTAAGTGAAGATATGAT	0.289000														72			29		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190129977	190129977	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:190129977G>A	uc001gse.1	-	6	1237	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	FAM5C_uc010pot.1_Silent_p.F233F	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	335						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)					ATGTGTTGAGGAAATAATTCA	0.299000														84			37		0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109509423	109509423	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:109509423C>T	uc010sxi.2	+	4	591	c.487C>T	c.(487-489)Cac>Tac	p.H163Y	USP30_uc001tnu.4_Missense_Mutation_p.H132Y	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	163					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ACAGGATGCTCACGAATTATT	0.493000														39			23		0	0	1	0	0
HPCA	3208	broad.mit.edu	37	1	33359166	33359166	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:33359166G>A	uc001bwh.3	+	2	460	c.420G>A	c.(418-420)gaG>gaA	p.E140E		NM_002143	NP_002134	P84074	HPCA_HUMAN	Homo sapiens hippocalcin (HPCA), mRNA.	140							actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AGATGCCGGAGGACGAGTCGA	0.647000														50			9		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19656741	19656741	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19656741C>T	uc002nmw.4	+	7	3490	c.3405C>T	c.(3403-3405)atC>atT	p.I1135I	CILP2_uc002nmv.4_Silent_p.I1129I	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	1129						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TTGGTGACATCCGCAGGGAGA	0.731000														17			4		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562537	140562537	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140562537G>A	uc003liv.3	+	0	1558	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	135					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATGTTCACTGAAAAGGAAAT	0.378000														49			18		0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902441	40902441	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40902441C>T	uc002onr.3	-	6	2087	c.1818G>A	c.(1816-1818)ccG>ccA	p.P606P	PRX_uc002onq.3_Silent_p.P467P|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	606	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				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)			CGGGCACCTTCGGGAGTTGCA	0.537000														209			84		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17419886	17419886	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17419886C>T	uc001mnc.3	-	30	3879	c.3753_splice	c.e30+1	p.M1251_splice		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1251	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TAGCACTTGCCATTCGGACTT	0.542000														44			11		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995875	19995875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:19995875C>T	uc002ktv.1	-	0	2004	c.1900G>A	c.(1900-1902)Gat>Aat	p.D634N		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	634						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TCTTTGGTATCATTTCTACTG	0.433000														229			88		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3076327	3076327	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:3076327C>T	uc003bpc.3	+	16	2134	c.1795C>T	c.(1795-1797)Ccc>Tcc	p.P599S	CNTN4_uc003bpb.1_Missense_Mutation_p.P270S|CNTN4_uc021wsg.1_Missense_Mutation_p.P599S|CNTN4_uc003bpd.1_Missense_Mutation_p.P599S|CNTN4_uc003bpe.3_Missense_Mutation_p.P271S|CNTN4_uc003bpf.3_Missense_Mutation_p.P270S	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	599	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.P271S(1)|p.P599S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCCTCCAGGTCCCCCAGAGGC	0.527000														41			13		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326001	152326001	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152326001C>T	uc001ezw.4	-	2	4334	c.4261G>A	c.(4261-4263)Gga>Aga	p.G1421R	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)			TGGCCAGATCCCCTTCTTCCA	0.527000														340			139		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37707446	37707446	+	Silent	SNP	G	A	A	rs112589819		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:37707446G>A	uc004aag.1	+	2	179	c.135G>A	c.(133-135)agG>agA	p.R45R	FRMPD1_uc004aah.1_Silent_p.R45R	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	45						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGCCCGCCAGGAACCCAACTC	0.498000														70			28		0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46398761	46398761	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:46398761C>T	uc001ncn.1	+	26	3031	c.2906_splice	c.e26+1	p.R969_splice	DGKZ_uc001nch.2_Splice_Site_p.R797_splice|DGKZ_uc010rgq.2_Splice_Site_p.R763_splice|DGKZ_uc010rgr.2_Splice_Site_p.R785_splice|DGKZ_uc001ncj.2_Splice_Site_p.R747_splice|DGKZ_uc001nck.2_Splice_Site_p.R559_splice|DGKZ_uc001ncm.2_Splice_Site_p.R780_splice|DGKZ_uc001ncl.2_Splice_Site_p.R781_splice|DGKZ_uc009yky.1_Splice_Site_p.R781_splice|DGKZ_uc010rgs.1_Splice_Site_p.R758_splice	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	969					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		ACCCACGCCCCGGTGAGTCCT	0.637000														15			14		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65425637	65425637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:65425637C>T	uc003dmn.3	-	8	1713	c.1187G>A	c.(1186-1188)cGg>cAg	p.R396Q	MAGI1_uc003dmm.3_Missense_Mutation_p.R396Q|MAGI1_uc003dmo.3_Missense_Mutation_p.R396Q|MAGI1_uc003dmp.3_Missense_Mutation_p.R396Q|MAGI1_uc010hny.2_Missense_Mutation_p.R281Q|MAGI1_uc021xac.1_Missense_Mutation_p.R397Q	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	396					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTGCTTCTTCCGTTTGGCTTC	0.517000											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		82			43		0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968065	4968065	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:4968065G>A	uc004fqo.3	+	1	3180	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K	PCDH11Y_uc010nwg.1_Missense_Mutation_p.E805K|PCDH11Y_uc004fql.1_Missense_Mutation_p.E805K|PCDH11Y_uc004fqm.1_Missense_Mutation_p.E805K|PCDH11Y_uc004fqn.1_Missense_Mutation_p.E816K|PCDH11Y_uc004fqp.1_Missense_Mutation_p.E587K	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	816	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACTGATTAATGAACTGGTGCG	0.438000														85			21		0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985509	108985509	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:108985509C>T	uc001tng.3	-	1	814	c.651G>A	c.(649-651)caG>caA	p.Q217Q	TMEM119_uc021rdl.1_Silent_p.Q217Q	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	217						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CCTGGACTTCCTGGTCCCCCT	0.697000														79			12		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833244	168833244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:168833244C>T	uc011bpj.1	-	7	2819	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K	MECOM_uc010hwk.1_Missense_Mutation_p.E641K|MECOM_uc003ffj.3_Missense_Mutation_p.E683K|MECOM_uc003ffi.3_Missense_Mutation_p.E618K|MECOM_uc011bpi.1_Missense_Mutation_p.E619K|MECOM_uc003ffn.3_Missense_Mutation_p.E618K|MECOM_uc003ffk.2_Missense_Mutation_p.E618K|MECOM_uc003ffl.2_Missense_Mutation_p.E778K|MECOM_uc011bpk.1_Missense_Mutation_p.E618K|MECOM_uc010hwn.2_Missense_Mutation_p.E806K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	27							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGTCTTGATTCGACGTTGCTT	0.473000														55			6		0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46415189	46415189	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46415189C>T	uc003cpo.4	+	2	918	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	CCR5_uc010hjd.3_Silent_p.L266L|CCR5_uc021wxb.1_Silent_p.L266L	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	266					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ATTCTTTGGCCTGAATAATTG	0.468000														352			123		0	0	1	0	0
SPDYE3	441272	broad.mit.edu	37	7	99917221	99917221	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99917221G>A	uc022aij.1	+	8	1564	c.1380G>A	c.(1378-1380)gaG>gaA	p.E460E	DQ601342_uc011kjm.1_5'Flank	NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN	Homo sapiens speedy homolog E3 (Xenopus laevis) (SPDYE3), mRNA.	460										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						AGGACGACGAGGCCCCCAAAC	0.552000														90			48		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227983423	227983423	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:227983423C>T	uc021vxr.1	-	5	528	c.427G>A	c.(427-429)Ggc>Agc	p.G143S	COL4A4_uc021vxs.1_Missense_Mutation_p.G143S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	143	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTCTTGAGCCATTGTGGCCA	0.502000														78			27		0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125622214	125622214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125622214G>A	uc010mwc.1	-	10	2072	c.1831C>T	c.(1831-1833)Cca>Tca	p.P611S	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.P611S|RC3H2_uc004bne.4_Missense_Mutation_p.P611S	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	611	Pro-rich.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GGGTACTGTGGGACTTCAAAG	0.353000														223			33		0	0	1	0	0
NRG2	9542	broad.mit.edu	37	5	139231339	139231339	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:139231339G>A	uc003lev.2	-	9	1876	c.1646C>T	c.(1645-1647)tCa>tTa	p.S549L	NRG2_uc003lew.2_Missense_Mutation_p.S543L|NRG2_uc003lex.2_Missense_Mutation_p.S541L|NRG2_uc003ley.2_Missense_Mutation_p.S535L|NRG2_uc021yed.1_Missense_Mutation_p.S475L	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	541					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTACCCACTGATGATAGCAT	0.632000														51			18		0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328312	48328312	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:48328312C>T	uc010rhu.2	+	0	538	c.538C>T	c.(538-540)Cat>Tat	p.H180Y		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTGTGATGTTCATCCCCTGCT	0.493000														28			32		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394637	86394637	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:86394637G>A	uc003uid.3	+	1	1275	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	GRM3_uc010lef.3_Missense_Mutation_p.R57Q|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	59					synaptic transmission	integral to plasma membrane		p.R59Q(2)|p.G58R(2)		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)	GAATGTGGGCGAATCAATGAA	0.418000														117			29		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95604162	95604162	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:95604162G>A	uc001tdp.4	-	1	1122	c.898C>T	c.(898-900)Ccc>Tcc	p.P300S	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	300					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATTTCTAAGGGACCAAGGTCT	0.403000														108			42		0	0	1	0	0
HIST1H4F	8361	broad.mit.edu	37	6	26240738	26240738	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:26240738G>A	uc003nhe.1	+	0	85	c.85G>A	c.(85-87)Ggc>Agc	p.G29S		NM_003540	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4f (HIST1H4F), mRNA.	29					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CAACATACAGGGCATCACGAA	0.557000														34			9		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84559348	84559348	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:84559348C>T	uc004eer.2	-	14	1712	c.1566_splice	c.e14+1	p.E522_splice	POF1B_uc004ees.3_Splice_Site_p.E522_splice	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	522							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TCCTTTTATACCTCTGACTGA	0.403000														43			26		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46598182	46598182	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:46598182G>A	uc009zkj.1	-	10	1409	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	SLC38A1_uc001rpb.3_Nonsense_Mutation_p.Q242*|SLC38A1_uc001rpc.3_Nonsense_Mutation_p.Q242*|SLC38A1_uc001rpd.3_Nonsense_Mutation_p.Q242*|SLC38A1_uc001rpe.3_Nonsense_Mutation_p.Q242*|SLC38A1_uc010slh.2_Nonsense_Mutation_p.Q215*|SLC38A1_uc001rpa.3_Nonsense_Mutation_p.Q242*	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	242					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CAGGGAATTTGAAATTTCTTG	0.323000														136			14		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095218	167095218	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167095218G>A	uc001geb.1	+	4	866	c.850G>A	c.(850-852)Gag>Aag	p.E284K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	284					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.E284Q(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGAGAGAGAAGAGGACTATGG	0.617000														50			11		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479923	142479923	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142479923G>A	uc011ksq.2	+	1	138	c.55G>A	c.(55-57)Gat>Aat	p.D19N	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		TGTCCCCTTTGATGATGATGA	0.547000														270			75		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513721	78513722	+	Nonsense_Mutation	DNP	CG	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:78513721_78513722CG>TA	uc001syp.3	+	14	3918_3919	c.3745_3746CG>TA	c.(3745-3747)cga>TAa	p.R1249*	NAV3_uc001syo.3_Nonsense_Mutation_p.R1249*|NAV3_uc010sub.2_Nonsense_Mutation_p.R749*|NAV3_uc009zsf.3_Nonsense_Mutation_p.R257*	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1249	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						ACCCACATTTCGAAGGTAAGGA	0.401000										HNSCC(70;0.22)				54			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13922350	13922350	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13922350G>A	uc003jfd.2	-	4	568	c.526C>T	c.(526-528)Ctc>Ttc	p.L176F	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	176	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)					GTGGCTCTGAGAGCAGGAATG	0.552000									Kartagener syndrome					47			19		0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54971043	54971043	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54971043C>T	uc001sgd.2	+	14	1935	c.1542C>T	c.(1540-1542)tcC>tcT	p.S514S	PDE1B_uc010soz.2_Silent_p.S377S|PDE1B_uc010spa.1_Silent_p.S473S|PDE1B_uc001sge.3_Silent_p.S494S|PDE1B_uc001sgf.3_Silent_p.S377S|PDE1B_uc009znq.3_Silent_p.S310S	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	514					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						ACGAGCTGTCCCCCTGTGAAG	0.557000														149			37		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23893247	23893247	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23893247C>T	uc001wjx.3	-	22	2897	c.2791G>A	c.(2791-2793)Gag>Aag	p.E931K		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	931			E -> K (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCATTCATCTCCTCCTCATCC	0.527000														137			37		0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28534796	28534796	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:28534796C>T	uc002hey.4	-	12	2148	c.1604G>A	c.(1603-1605)tGg>tAg	p.W535*	SLC6A4_uc010csg.3_Non-coding_Transcript	NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	535					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCTCCAGAACCACCCCGGGCT	0.577000														41			5		0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241534449	241534449	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241534449C>T	uc002vzk.2	+	6	1202	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F	CAPN10_uc010zoh.2_Missense_Mutation_p.L336F|CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Missense_Mutation_p.L336F|CAPN10_uc002vzn.2_Missense_Mutation_p.L208F|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	336	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		AGAGAGGCTGCTCTGCCATAC	0.637000														42			18		0	0	1	0	0
ATP5B	506	broad.mit.edu	37	12	57032929	57032929	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57032929G>A	uc001slr.3	-	8	1555	c.1450C>T	c.(1450-1452)Ctg>Ttg	p.L484L	BAZ2A_uc001slq.1_5'Flank|BAZ2A_uc010sqr.1_5'Flank	NM_001686	NP_001677	P06576	ATPB_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide (ATP5B), nuclear gene encoding mitochondrial protein, mRNA.	484					ATP hydrolysis coupled proton transport|angiogenesis|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|MHC class I protein binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTCTCCTTCAGGGGTACCAGC	0.483000														108			69		0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38355359	38355359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:38355359G>A	uc001ccf.1	-	2	212	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	INPP5B_uc009vvk.1_Missense_Mutation_p.R164C|INPP5B_uc001ccg.1_Missense_Mutation_p.R223C|INPP5B_uc010oij.1_Non-coding_Transcript	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	303					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTGGAGGAGCGAACCATGTCA	0.388000														140			44		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33840369	33840370	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:33840369_33840370CC>TT	uc001zhi.3	+	8	849_850	c.779_780CC>TT	c.(778-780)gcc>gTT	p.A260V	RYR3_uc010bar.3_Missense_Mutation_p.A260V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	260	MIR 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGACTCGAGCCAGGTCTCTTT	0.510000														24			4		0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78933433	78933433	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:78933433G>A	uc002bed.1	-	0	155	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	CHRNB4_uc002bee.1_Missense_Mutation_p.L15F|CHRNB4_uc010blh.1_Intron	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	15					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CGCCCGCAAAGGGCGACCAGG	0.711000														16			7		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9225293	9225293	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:9225293C>T	uc001qvk.1	-	29	4044	c.3931G>A	c.(3931-3933)Gaa>Aaa	p.E1311K	A2M_uc009zgk.1_Missense_Mutation_p.E1161K	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1311					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.G1310W(2)|p.G1310G(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	ATGCTGTATTCCCCAGGCAGC	0.517000														121			62		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57731603	57731603	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:57731603A>T	uc010bfw.3	+	2	1599	c.1406A>T	c.(1405-1407)aAa>aTa	p.K469I	CGNL1_uc002aeg.3_Missense_Mutation_p.K469I	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	469	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATAGATGGGAAAGTTCTGGAA	0.582000														66			22		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179414035	179414035	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179414035C>T	uc021vsy.1	-	287	84839	c.84614G>A	c.(84613-84615)cGa>cAa	p.R28205Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R21900Q|TTN_uc021vta.1_Missense_Mutation_p.R21833Q|TTN_uc021vtb.1_Missense_Mutation_p.R21708Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29132	Ig-like 131.						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)			AGAGATTGGTCGTTTGCTGAT	0.428000														84			30		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579921	140579921	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140579921C>T	uc003liy.3	+	0	574	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	192	Cadherin 2.				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)			TAGGAAATACCCCGAGTTAGT	0.463000														66			16		0	0	1	0	0
PYGO1	26108	broad.mit.edu	37	15	55839201	55839201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:55839201C>T	uc002adf.1	-	2	280	c.280G>A	c.(280-282)Ggt>Agt	p.G94S	PYGO1_uc010bfl.1_Missense_Mutation_p.G94S	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.	94	Pro-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		CCAGGATAACCAGGGCCAAGA	0.443000														136			32		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250700	140250700	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140250700G>A	uc003lia.2	+	0	2870	c.2012G>A	c.(2011-2013)aGc>aAc	p.S671N	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_uc011dae.2_Missense_Mutation_p.S671N	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	682	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)			TTGGTGGAGAGCGGACAGGCG	0.662000														68			16		0	0	1	0	0
SLC22A13	9390	broad.mit.edu	37	3	38307601	38307601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38307601C>T	uc003chz.3	+	0	304	c.250C>T	c.(250-252)Ctc>Ttc	p.L84F	SLC22A13_uc011aym.1_Non-coding_Transcript|SLC22A13_uc011ayn.1_Missense_Mutation_p.L84F	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 13 (SLC22A13), mRNA.	84						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		AGAGCCCTGCCTCATGTTCCG	0.592000														36			5		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158326659	158326659	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158326659G>A	uc001fse.3	+	5	1433	c.1140G>A	c.(1138-1140)tgG>tgA	p.W380*	CD1E_uc001fsh.3_Nonsense_Mutation_p.W179*|CD1E_uc001fry.3_Nonsense_Mutation_p.W313*|CD1E_uc001fsf.3_Nonsense_Mutation_p.W368*|CD1E_uc001fsg.3_3'UTR|CD1E_uc009wsv.3_Nonsense_Mutation_p.W281*|CD1E_uc001fsj.3_Nonsense_Mutation_p.W223*|CD1E_uc001fsk.3_Nonsense_Mutation_p.W290*|CD1E_uc001fsa.3_Nonsense_Mutation_p.W136*|CD1E_uc001fsd.3_3'UTR|CD1E_uc001frz.3_Nonsense_Mutation_p.W278*|CD1E_uc010pig.2_Nonsense_Mutation_p.W124*|CD1E_uc001fsc.3_Nonsense_Mutation_p.W191*|CD1E_uc021pbm.1_Non-coding_Transcript|CD1E_uc009wsw.3_3'UTR	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	380					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen		p.W380*(2)		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)					TGAAGAAGTGGAAGACACGCC	0.428000														116			26		0	0	1	0	0
B3GNT6	192134	broad.mit.edu	37	11	76751273	76751273	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:76751273C>T	uc021qnq.1	+	0	678	c.678C>T	c.(676-678)ttC>ttT	p.F226F	B3GNT6_uc021qnp.1_Silent_p.F226F			Q6ZMB0	B3GN6_HUMAN	SubName: Full=Uncharacterized protein;	226					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						ACGACGTGTTCGTGCACACCG	0.677000														41			7		0	0	1	0	0
LPAR5	57121	broad.mit.edu	37	12	6730251	6730251	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6730251G>A	uc009zer.2	-	1	445	c.164C>T	c.(163-165)tCg>tTg	p.S55L	LPAR5_uc001qps.2_Missense_Mutation_p.S55L|LPAR5_uc010sff.1_Missense_Mutation_p.S55L|LPAR5_uc021qub.1_Missense_Mutation_p.S55L	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN	Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.	55						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						GCTCACCACCGAGTGCACGCG	0.662000														28			5		0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31710235	31710235	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:31710235G>A	uc021wuu.1	-	9	2666	c.1995C>T	c.(1993-1995)ttC>ttT	p.F665F	OSBPL10_uc003ceu.1_Silent_p.F422F|OSBPL10_uc011axf.2_Silent_p.F601F	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	665					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TGTTGTAGGTGAACTCTAAAG	0.458000														101			50		0	0	1	0	0
SPRR2D	6703	broad.mit.edu	37	1	153012740	153012740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153012740G>A	uc021ozq.1	-	0	83	c.83C>T	c.(82-84)cCa>cTa	p.P28L	SPRR2D_uc001fbb.2_Missense_Mutation_p.P28L	NM_006945	NP_008876	P22532	SPR2D_HUMAN	Homo sapiens small proline-rich protein 2D (SPRR2D), mRNA.	28	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTCGGGGGTGGACATGGCTC	0.607000														138			51		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76900452	76900452	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:76900452C>T	uc001oyb.2	+	27	3839	c.3567C>T	c.(3565-3567)gcC>gcT	p.A1189A	MYO7A_uc010rsm.1_Silent_p.A1178A|MYO7A_uc001oyc.2_Silent_p.A1189A|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.A400A	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1189	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						GCAGCTATGCCCGGGGCTGGA	0.622000														55			29		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38574572	38574572	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:38574572C>T	uc003tgu.3	-	1	325	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	AMPH_uc003tgv.3_Missense_Mutation_p.E37K	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	37	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCGAACTGTTCGTCTTTTGTC	0.348000														95			8		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76757136	76757136	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:76757136C>T	uc002lmt.3	+	2	3717	c.3717C>T	c.(3715-3717)ccC>ccT	p.P1239P	SALL3_uc010dra.3_Silent_p.P774P	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCGGCATCCCCCAGCTCCCCG	0.617000														161			35		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40590106	40590106	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:40590106G>A	uc002yxk.2	-	30	3926	c.3631C>T	c.(3631-3633)Cga>Tga	p.R1211*	BRWD1_uc010goc.1_Intron|BRWD1_uc021wjf.1_Nonsense_Mutation_p.R1211*|BRWD1_uc010god.1_Nonsense_Mutation_p.R177*	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1211	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.R1211Q(1)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGTCTCATTCGAATTGTGTAA	0.363000														58			17		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940539	22940539	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22940539C>T	uc021urt.1	-	3	2327	c.2172G>A	c.(2170-2172)gaG>gaA	p.E724E		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATGAATTATCTCATGTTTTC	0.363000														70			24		0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8148302	8148302	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:8148302G>A	uc010rbm.1	-	4	712	c.658C>T	c.(658-660)Cga>Tga	p.R220*	RIC3_uc001mgb.2_Nonsense_Mutation_p.R30*|RIC3_uc010rbl.1_Nonsense_Mutation_p.R142*|RIC3_uc001mgd.2_Nonsense_Mutation_p.R192*|RIC3_uc001mgc.2_Nonsense_Mutation_p.R191*|RIC3_uc009yfm.2_Intron|RIC3_uc001mge.2_Intron|RIC3_uc009yfn.2_5'UTR	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	192						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GTGATTTCTCGGAGCTGATGT	0.443000														56			18		0	0	1	0	0
CD226	10666	broad.mit.edu	37	18	67540457	67540457	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:67540457G>A	uc010dqo.3	-	3	1200	c.753C>T	c.(751-753)ctC>ctT	p.L251L	CD226_uc002lkm.4_Silent_p.L251L|CD226_uc021uli.1_Silent_p.L96L	NM_006566	NP_006557	Q15762	CD226_HUMAN	Homo sapiens CD226 molecule (CD226), mRNA.	251					cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				CAGCCACAAAGAGGGTATATT	0.363000														137			63		0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124459232	124459232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124459232C>T	uc001lgn.3	-	0	107	c.75G>A	c.(73-75)agG>agA	p.R25R		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	25										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TTTCATTCTTCCTTTCTTGCA	0.448000														65			24		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39788323	39788323	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:39788323C>T	uc021olt.1	+	30	4140	c.4088C>T	c.(4087-4089)tCg>tTg	p.S1363L	MACF1_uc021ols.1_Missense_Mutation_p.S1363L|MACF1_uc001cdc.2_Missense_Mutation_p.S1363L|MACF1_uc001cda.1_Missense_Mutation_p.S1271L|MACF1_uc009vvq.1_Missense_Mutation_p.S420L|MACF1_uc001cdb.1_Missense_Mutation_p.S450L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1363					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	p.S1363L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTGTGGAATCGCAGCAGAAA	0.463000														97			39		0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27368311	27368311	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:27368311C>T	uc003njf.1	+	2	680	c.162C>T	c.(160-162)ttC>ttT	p.F54F	ZNF391_uc021ypw.1_Silent_p.F54F	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	Homo sapiens zinc finger protein 391 (ZNF391), mRNA.	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						AAGAAATTTTCACAGGGGAGG	0.428000														77			26		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26115882	26115882	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:26115882C>T	uc002gzu.3	-	3	535	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	NOS2_uc010crh.1_Missense_Mutation_p.G91S|NOS2_uc010wab.1_Missense_Mutation_p.G91S	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	91					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	ATCCCGCTGCCCCAGTTTTTG	0.527000														74			61		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13381784	13381784	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:13381784G>A	uc003bxv.1	-	23	3326	c.3243C>T	c.(3241-3243)ttC>ttT	p.F1081F		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1081					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCATCAGCCTGAACGGGGGAA	0.577000														42			8		0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072297	134072298	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:134072297_134072298CC>TT	uc003iha.3	+	0	1828_1829	c.1002_1003CC>TT	c.(1000-1005)ggcccc>ggTTcc	p.P335S	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Missense_Mutation_p.P335S	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	335	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGGACCTGGGCCCCAACGCCGT	0.599000														121			20		0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112944888	112944888	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:112944888C>T	uc002tho.1	+	7	1396	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	FBLN7_uc010fki.1_Silent_p.I329I|FBLN7_uc010fkj.1_Silent_p.I241I	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	375					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTTTGGGATCGTGGGTGGGA	0.642000														101			56		0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41798316	41798316	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41798316C>A	uc002oqb.4	+	7	1455	c.1166C>A	c.(1165-1167)cCc>cAc	p.P389H	HNRNPUL1_uc002opz.4_Missense_Mutation_p.P289H|HNRNPUL1_uc002oqa.4_Missense_Mutation_p.P289H|HNRNPUL1_uc010ehm.3_Missense_Mutation_p.P389H|HNRNPUL1_uc002oqc.4_Missense_Mutation_p.P275H|HNRNPUL1_uc002oqe.4_Intron|HNRNPUL1_uc002oqd.4_Missense_Mutation_p.P289H|HNRNPUL1_uc010ehn.3_Missense_Mutation_p.P289H|HNRNPUL1_uc010xvy.2_Missense_Mutation_p.P289H|HNRNPUL1_uc010ehp.3_Missense_Mutation_p.P245H|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.P289H	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRNPUL1), transcript variant 1, mRNA.	389	Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGAGCAGAGCCCTACTGTTCT	0.557000														84			34		6.50621e-10	6.52922e-10	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176760486	176760486	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176760486C>T	uc001gkz.3	+	18	6052	c.4888C>T	c.(4888-4890)Ccc>Tcc	p.P1630S	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1630	Sushi 4.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATTCTAGCTTCCCATCCTCTG	0.408000														49			13		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189020234	189020234	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:189020234C>T	uc011cle.1	-	3	798	c.576G>A	c.(574-576)gtG>gtA	p.V192V	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Silent_p.V142V|TRIML2_uc011clf.1_Silent_p.V192V	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	142	B30.2/SPRY.						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)		TCTCAAGCTCCACGATGAGCT	0.478000														90			30		0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22202044	22202044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:22202044C>T	uc003svg.3	-	12	1253	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	RAPGEF5_uc011jyl.1_5'UTR	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	164					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TGTTCATCTTCAGGTAACCAG	0.343000														61			21		0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170873696	170873696	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:170873696C>T	uc003qxu.3	+	3	840	c.561C>T	c.(559-561)gcC>gcT	p.A187A	TBP_uc011ehf.2_Silent_p.A167A|TBP_uc003qxt.3_Silent_p.A187A	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	187				A -> R (in Ref. 3; AAC03409).	cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		CACTTCGTGCCCGAAACGCCG	0.318000														26			17		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80746087	80746087	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:80746087G>A	uc001szd.3	+	43	5257	c.5251G>A	c.(5251-5253)Gac>Aac	p.D1751N		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTCACCGGAAGACTTTTGTGA	0.338000														17			10		0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60351455	60351455	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:60351455C>T	uc002izq.2	-	1	134	c.22G>A	c.(22-24)Ggt>Agt	p.G8S	TBC1D3P2_uc010woz.2_Non-coding_Transcript					Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						CACCAACTACCCGCGACCTCT	0.542000														474			119		0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9804648	9804648	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:9804648C>T	uc003bst.3	-	4	564	c.379G>A	c.(379-381)Gat>Aat	p.D127N	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_5'Flank|AX748417_uc003bsv.1_Non-coding_Transcript	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	127	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TTCACAGCATCCAGCACCTGG	0.607000														42			15		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	169985283	169985283	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169985283G>A	uc002ues.3	-	78	14071	c.13858C>T	c.(13858-13860)Cct>Tct	p.P4620S		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4620					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGCTTAGCAGGGAGCGAAGGT	0.453000														129			46		0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207135558	207135558	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207135558C>T	uc001hfa.4	-	5	1152	c.652_splice	c.e5+1	p.G218_splice	FCAMR_uc001hfb.3_Splice_Site_p.V218_splice|FCAMR_uc009xca.2_Splice_Site_p.V218_splice|FCAMR_uc021pig.1_Splice_Site_p.G133_splice	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	173						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						CAGCTCATACCTGCAGAGATG	0.512000														50			17		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111595608	111595608	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:111595608C>T	uc003kpv.1	-	7	985	c.711G>A	c.(709-711)aaG>aaA	p.K237K		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	237	FERM.					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)		TCCCCACTTGCTTTTTATTCT	0.408000														83			30		0	0	1	0	0
FAM81B	153643	broad.mit.edu	37	5	94749806	94749806	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:94749806G>A	uc003kla.1	+	3	495	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	150			R -> G (in dbSNP:rs10042271).					p.R150*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CATGGCTTTCGAAAAGAGGAA	0.493000														81			41		0	0	1	0	0
FCER2	2208	broad.mit.edu	37	19	7754151	7754151	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7754151C>T	uc002mhn.3	-	10	1111	c.894G>A	c.(892-894)gaG>gaA	p.E298E	FCER2_uc021unx.1_Silent_p.E297E|FCER2_uc002mhm.2_Silent_p.E298E|FCER2_uc010xjt.2_Silent_p.E220E	NM_001220500	NP_001207429	P06734	FCER2_HUMAN	Homo sapiens Fc fragment of IgE, low affinity II, receptor for (CD23) (FCER2), transcript variant 3, mRNA.	298					positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						GTCCCATGGACTCCGCGGAAC	0.672000														20			8		0	0	1	0	0
WDR43	23160	broad.mit.edu	37	2	29135488	29135488	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29135488C>T	uc002rmo.2	+	3	550	c.518C>T	c.(517-519)tCc>tTc	p.S173F	SNORD92_uc002rmp.1_5'Flank	NM_015131	NP_055946	Q15061	WDR43_HUMAN	Homo sapiens WD repeat domain 43 (WDR43), mRNA.	173						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					AGTGTCAGTTCCCTATGTATC	0.398000														59			32		0	0	1	0	0
TMEM109	79073	broad.mit.edu	37	11	60689298	60689298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60689298C>T	uc001nqg.3	+	3	771	c.393C>T	c.(391-393)ttC>ttT	p.F131F	TMEM132A_uc001nqi.3_5'Flank|TMEM132A_uc001nqj.3_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	131						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						TCCAGACCTTCCTGCTGTGGG	0.632000														108			54		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82807962	82807962	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:82807962C>T	uc003kii.3	+	5	1145	c.789C>T	c.(787-789)ttC>ttT	p.F263F	VCAN_uc003kij.3_Silent_p.F263F|VCAN_uc010jau.2_Silent_p.F263F|VCAN_uc003kik.3_Silent_p.F263F|VCAN_uc003kih.4_Silent_p.F263F	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	263	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AATTCACCTTCGAGGAGGCTG	0.488000														54			19		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922361	24922361	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24922361A>G	uc001ywo.3	+	0	1821	c.1347A>G	c.(1345-1347)aaA>aaG	p.K449K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	449	Pro-rich.				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)		CCACACCAAAAATGGATGAGA	0.507000														113			55		0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36556853	36556853	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:36556853G>A	uc003aot.3	-	0	125	c.87C>T	c.(85-87)ttC>ttT	p.F29F	APOL3_uc003aoq.3_5'UTR|APOL3_uc003aor.3_5'UTR|APOL3_uc003aos.3_5'UTR|APOL3_uc003aou.3_Intron|APOL3_uc003aov.3_Intron	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	29					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						ACCCAAAAGGGAAAGTGAAAG	0.537000														49			24		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40854284	40854284	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:40854284C>T	uc003jmg.3	+	2	2925	c.2850C>T	c.(2848-2850)tcC>tcT	p.S950S		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	950					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CCAACCCATCCACAGTCAAAC	0.498000														210			88		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45671561	45671561	+	Silent	SNP	G	A	A	rs148926071		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45671561G>A	uc002zeg.1	-	8	1198	c.714C>T	c.(712-714)ttC>ttT	p.F238F	DNMT3L_uc002zeh.1_Silent_p.F238F	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	238					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	p.F238F(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		ACACAAGATCGAAGGGTCCCC	0.652000														36			9		0	0	1	0	0
POLR3F	10621	broad.mit.edu	37	20	18448034	18448034	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:18448034G>A	uc002wqv.3	+	1	1	c.-117_splice	c.e1-1		DZANK1_uc002wqr.4_5'Flank|DZANK1_uc002wqs.4_5'Flank|DZANK1_uc002wqq.4_5'Flank|DZANK1_uc010zsa.2_5'Flank|DZANK1_uc002wqu.1_5'Flank|DZANK1_uc010gct.1_5'Flank|POLR3F_uc002wqw.3_Splice_Site|POLR3F_uc002wqx.3_Splice_Site	NM_006466	NP_006457	Q9H1D9	RPC6_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa (POLR3F), mRNA.						innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding			breast(2)	2						GCGACACGAGGAAGAAGGCCC	0.657000														10			5		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17588655	17588655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17588655G>A	uc001bai.3	+	2	341	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	101					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CTCCAGCCATGAGCCTCTGCC	0.547000														29			15		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130788431	130788431	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:130788431C>T	uc003ysr.3	-	2	1203	c.321G>A	c.(319-321)ggG>ggA	p.G107G		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	107						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CAGAGGCCTCCCCTGACACAC	0.478000														89			20		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71901373	71901373	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71901373G>A	uc010fen.3	+	51	5972	c.5831G>A	c.(5830-5832)cGa>cAa	p.R1944Q	DYSF_uc010fei.3_Missense_Mutation_p.R1922Q|DYSF_uc010feh.3_Missense_Mutation_p.R1912Q|DYSF_uc002sig.4_Missense_Mutation_p.R1891Q|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R1936Q|DYSF_uc010fee.3_Missense_Mutation_p.R1926Q|DYSF_uc010fef.3_Missense_Mutation_p.R1943Q|DYSF_uc002sie.3_Missense_Mutation_p.R1905Q|DYSF_uc010feo.3_Missense_Mutation_p.R1937Q|DYSF_uc010fej.3_Missense_Mutation_p.R1913Q|DYSF_uc010fel.3_Missense_Mutation_p.R1892Q|DYSF_uc010fem.3_Missense_Mutation_p.R1927Q|DYSF_uc002sif.3_Missense_Mutation_p.R1906Q|DYSF_uc010fek.3_Missense_Mutation_p.R1923Q|DYSF_uc010yqy.2_Missense_Mutation_p.R786Q|DYSF_uc010yqz.2_Missense_Mutation_p.R666Q	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1905						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATCCCAGCACGAGTGGTGTTC	0.517000														56			27		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117788609	117788609	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:117788609C>T	uc004eqp.2	+	42	4803	c.4740C>T	c.(4738-4740)atC>atT	p.I1580I	DOCK11_uc004eqq.2_Silent_p.I1359I	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1580	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CCAAGAGAATCCGCACTGTTC	0.418000														19			40		0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53686563	53686563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:53686563G>A	uc002ehp.3	-	14	2100	c.2036C>T	c.(2035-2037)aCc>aTc	p.T679I	RPGRIP1L_uc002eho.4_Missense_Mutation_p.T679I|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.T679I|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.T679I|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.T679I	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	679	C2 1.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GACCTCAAGGGTGATAGTATT	0.363000														73			15		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75829083	75829083	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:75829083C>T	uc021zbv.1	-	43	7228	c.7193G>A	c.(7192-7194)gGa>gAa	p.G2398E	COL12A1_uc021zbw.1_Missense_Mutation_p.G1234E|COL12A1_uc003phs.3_Missense_Mutation_p.G2398E|COL12A1_uc003pht.3_Missense_Mutation_p.G1234E	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2398	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGTGTTTCCTCCTCTGTACCT	0.438000														142			18		0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683513	159683514	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159683513_159683514GG>AA	uc001ftw.3	-	1	580_581	c.476_477CC>TT	c.(475-477)tcc>tTT	p.S159F	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	159	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	TCCCACCGAAGGAATCCTGCTC	0.520000														335			126		0	0	1	0	0
LRRC48	83450	broad.mit.edu	37	17	17891358	17891358	+	Silent	SNP	C	T	T	rs145108400	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:17891358C>T	uc021trj.1	+	5	769	c.390C>T	c.(388-390)ctC>ctT	p.L130L	LRRC48_uc010vxe.2_Silent_p.L130L|LRRC48_uc021tri.1_Silent_p.L130L|LRRC48_uc021trk.1_Silent_p.L130L	NM_001130090	NP_112584	Q9H069	LRC48_HUMAN	Homo sapiens leucine rich repeat containing 48 (LRRC48), transcript variant 1, mRNA.	130						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TGGACGCCCTCGTCAAGCTGC	0.587000														29			14		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25255686	25255686	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:25255686G>A	uc003abg.2	+	8	962	c.805G>A	c.(805-807)Gac>Aac	p.D269N	SGSM1_uc010guu.1_Missense_Mutation_p.D269N|SGSM1_uc003abh.2_Missense_Mutation_p.D269N|SGSM1_uc003abj.2_Missense_Mutation_p.D269N|SGSM1_uc003abi.1_Missense_Mutation_p.D244N|SGSM1_uc003abf.2_Missense_Mutation_p.D269N	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	269						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TCTGCAGAGGGACGACATGGA	0.557000														42			27		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45134815	45134815	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:45134815C>T	uc003com.3	-	5	1716	c.1581G>A	c.(1579-1581)gaG>gaA	p.E527E		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	527	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCCTGGAGGCCTCTTGTTGGA	0.527000														73			32		0	0	1	0	0
SLC38A9	153129	broad.mit.edu	37	5	54922345	54922345	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:54922345G>A	uc003jqf.2	-	15	2255	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L	SLC38A9_uc003jqd.2_Silent_p.L492L|SLC38A9_uc010ivx.2_Silent_p.L492L|SLC38A9_uc003jqe.2_Non-coding_Transcript|SLC38A9_uc010ivy.2_Silent_p.L426L	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	Homo sapiens solute carrier family 38, member 9 (SLC38A9), mRNA.	555					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TGAACAATCAGGTTAGCCACG	0.368000														110			42		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017344	93017344	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:93017344C>T	uc022axs.1	-	6	1104	c.917_splice	c.e6+1	p.R306_splice	RUNX1T1_uc003yfc.2_Splice_Site_p.R220_splice|RUNX1T1_uc010mam.3_Splice_Site_p.R220_splice|RUNX1T1_uc003yfe.2_Splice_Site_p.R210_splice|RUNX1T1_uc003yfd.3_Splice_Site_p.R247_splice|RUNX1T1_uc022axo.1_Splice_Site_p.R247_splice|RUNX1T1_uc010mao.3_Splice_Site_p.R220_splice|RUNX1T1_uc011lgi.2_Splice_Site_p.R258_splice|RUNX1T1_uc022axp.1_Splice_Site_p.R247_splice|RUNX1T1_uc022axq.1_Splice_Site_p.R247_splice|RUNX1T1_uc022axr.1_Splice_Site_p.R247_splice|RUNX1T1_uc022axt.1_Splice_Site_p.R247_splice|RUNX1T1_uc022axu.1_Splice_Site_p.R227_splice|RUNX1T1_uc022axv.1_Splice_Site_p.R247_splice|RUNX1T1_uc003yfb.2_Splice_Site_p.R210_splice|RUNX1T1_uc003yff.1_Missense_Mutation_p.R210K	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	247					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCCCTCTCACCTGTCTGGAGT	0.512000														100			21		0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140380881	140380881	+	Missense_Mutation	SNP	C	T	T	rs138501789		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:140380881C>T	uc003vvy.1	+	3	1427	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	ADCK2_uc003vvz.3_Missense_Mutation_p.P417S	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	417	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GGCAGGAATTCCCGTGGACTT	0.567000														53			5		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167023529	167023529	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:167023529C>T	uc011bpc.2	-	16	1964	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K	ZBBX_uc003feq.3_Missense_Mutation_p.E514K|ZBBX_uc003fep.3_Missense_Mutation_p.E543K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	543						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATTTCTCCTCAATGGGAGCT	0.353000														48			24		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38941514	38941514	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38941514G>A	uc021wvy.1	-	12	2092	c.1893C>T	c.(1891-1893)ctC>ctT	p.L631L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	631					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGTAGGGATCGAGCGCAATGA	0.413000														37			16		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52587970	52587970	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:52587970C>T	uc001jjj.3	-	6	878	c.690G>A	c.(688-690)gtG>gtA	p.V230V	A1CF_uc010qho.2_Silent_p.V238V|A1CF_uc010qhn.2_Silent_p.V238V|A1CF_uc009xov.3_Silent_p.V230V|A1CF_uc001jji.3_Silent_p.V230V|A1CF_uc001jjh.3_Silent_p.V238V	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	230					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ATAGGATTTTCACTGAAGACA	0.363000														79			26		0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12184911	12184911	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12184911T>A	uc002mtb.2	+	1	212	c.69T>A	c.(67-69)ccT>ccA	p.P23P	ZNF844_uc010dym.1_5'UTR	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TGCTGGATCCTTCCCAGAAGA	0.493000														103			41		0	0	1	0	0
TESK1	7016	broad.mit.edu	37	9	35608894	35608894	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35608894C>T	uc003zxa.3	+	9	1372	c.1036C>T	c.(1036-1038)Ccc>Tcc	p.P346S	TESK1_uc010mks.3_Missense_Mutation_p.P186S	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Homo sapiens testis-specific kinase 1 (TESK1), mRNA.	346					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCCACGCTTCCCAGGCCAGA	0.582000														112			41		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218700808	218700808	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:218700808G>A	uc002vgt.2	-	17	3157	c.2759C>T	c.(2758-2760)tCc>tTc	p.S920F	TNS1_uc002vgr.2_Missense_Mutation_p.S920F|TNS1_uc002vgs.2_Missense_Mutation_p.S920F|TNS1_uc010zjv.1_Missense_Mutation_p.S920F	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	920						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.R919C(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTGGACAGGGGAGCGAACCCC	0.622000														66			37		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62768205	62768205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62768205C>T	uc009yon.3	-	2	545	c.424G>A	c.(424-426)Gac>Aac	p.D142N	SLC22A8_uc001nwn.1_5'Flank|SLC22A8_uc009yom.3_Missense_Mutation_p.D19N|SLC22A8_uc001nwo.3_Missense_Mutation_p.D142N|SLC22A8_uc010rmm.2_Missense_Mutation_p.D51N|SLC22A8_uc001nwp.2_Missense_Mutation_p.D142N	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	142					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TCAGACAGGTCTCCAAGCACG	0.562000														45			17		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21120489	21120489	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:21120489C>T	uc001iqi.3	-	14	1870	c.1473G>A	c.(1471-1473)gaG>gaA	p.E491E	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	491					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TAATTTCAGTCTCCAGATCTC	0.428000														52			25		0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39116746	39116746	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39116746G>A	uc002hvo.1	-	5	1040	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F	KRT39_uc010wfm.1_Missense_Mutation_p.S68F	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	335	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GCACTCTTGGGAATCTCTCTA	0.463000														85			24		0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6222145	6222145	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6222145G>A	uc002mek.3	-	5	1261	c.1097C>T	c.(1096-1098)tCc>tTc	p.S366F		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	366					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	p.A365S(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GGACTTGAAGGAGGCCTCGTC	0.642000			T	MLL	AL									22			7		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	169997050	169997050	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169997050C>T	uc002ues.3	-	71	13327	c.13114G>A	c.(13114-13116)Gaa>Aaa	p.E4372K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4372					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATAGGCAGTTCGATGGCTGCA	0.547000														29			12		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227465	38227465	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:38227465C>T	uc009vvi.3	-	2	548	c.462G>A	c.(460-462)acG>acA	p.T154T	EPHA10_uc001cbw.4_Silent_p.T154T	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	154						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGCCGCGATCGTGTCGATTT	0.662000														31			23		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344279	56344279	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56344279C>T	uc001niz.1	-	0	919	c.919G>A	c.(919-921)Gga>Aga	p.G307R	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AAGGATTTTCCCCTAATCATT	0.373000														197			74		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4835910	4835910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4835910G>A	uc001qne.1	+	1	516	c.424G>A	c.(424-426)Gac>Aac	p.D142N		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	142						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGCGGCCCAGGACCTCTTCCG	0.552000														49			21		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36224722	36224722	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36224722C>T	uc021usv.1	+	29	7108	c.7108C>T	c.(7108-7110)Ccc>Tcc	p.P2370S	MLL2_uc021usu.1_Missense_Mutation_p.P1184S	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	919	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCCCCAGGTCCCCGATGGTCC	0.637000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				40			19		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862327	14862327	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:14862327C>T	uc003bzc.3	+	0	1859	c.1749C>T	c.(1747-1749)ctC>ctT	p.L583L	FGD5_uc011avk.2_Silent_p.L583L	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	583					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.L342L(1)|p.L583L(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGGACAATCTCTCTCTGTCGT	0.562000														59			17		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40044087	40044087	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:40044087G>A	uc002xka.1	-	33	6856	c.6678C>T	c.(6676-6678)tcC>tcT	p.S2226S	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2226					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGGCTCCTGGGGACCCCTCTG	0.597000														12			8		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13386683	13386683	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:13386683G>A	uc002mwy.3	-	23	4206	c.3970C>T	c.(3970-3972)Ctg>Ttg	p.L1324L	CACNA1A_uc002mwx.3_Silent_p.L30L|CACNA1A_uc010dzc.2_Silent_p.L850L|CACNA1A_uc010xnd.2_Silent_p.L1327L|CACNA1A_uc021ups.1_Silent_p.L1324L|CACNA1A_uc010xne.2_Silent_p.L1327L|CACNA1A_uc010dze.2_Silent_p.L1324L|CACNA1A_uc021upt.1_Silent_p.L1325L	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1325					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AAGGCTACCAGGGCCCCACTG	0.562000														28			12		0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	45972760	45972760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:45972760G>A	uc011bal.1	-	15	4226	c.4114C>T	c.(4114-4116)Ctc>Ttc	p.L1372F	FYCO1_uc003cpb.4_Missense_Mutation_p.L1352F	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	1352	GOLD.				transport	integral to membrane	metal ion binding|protein binding	p.L1352F(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCCACTGTGAGGGGTACTTTG	0.547000														32			10		0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44228526	44228526	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44228526C>T	uc003tkl.2	-	0	497	c.27G>A	c.(25-27)gaG>gaA	p.E9E		NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	9					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCTTGGCGGCCTCCATCCTGG	0.562000														29			13		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097768	167097768	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167097768G>A	uc001geb.1	+	4	3416	c.3400G>A	c.(3400-3402)Gat>Aat	p.D1134N		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	1134					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAAATGGACGATGAAGCCAT	0.522000														40			16		0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18182980	18182980	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18182980C>T	uc002nhx.1	-	9	1134	c.1083G>A	c.(1081-1083)tcG>tcA	p.S361S	IL12RB1_uc002nhw.1_Silent_p.S321S|IL12RB1_uc010xqb.1_Silent_p.S321S|IL12RB1_uc002nhy.3_Silent_p.S321S	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	321	Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CAAATTGGTTCGAGGAGATGA	0.627000														35			17		0	0	1	0	0
LCN1	3933	broad.mit.edu	37	9	138415806	138415807	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:138415806_138415807GG>AA	uc022bpk.1	+	3	433_434	c.373_374GG>AA	c.(373-375)ggg>AAg	p.G125K	LCN1_uc022bpj.1_Missense_Mutation_p.G125K|LCN1_uc004cfz.2_Missense_Mutation_p.G125K|LCN1_uc004cga.2_Missense_Mutation_p.G125K	NM_001252618	NP_001239547	P31025	LCN1_HUMAN	Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA.	125					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	p.G125G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		CGAGCTGCACGGGAAGCCGGTC	0.639000														42			11		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166911222	166911222	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166911222C>T	uc002udo.4	-	5	755	c.528G>A	c.(526-528)agG>agA	p.R176R	SCN1A_uc010fpk.3_Silent_p.R176R|SCN1A_uc021vsb.1_Silent_p.R176R	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	176						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AACAGAATCCCCTTGCAATAA	0.323000														44			4		0	0	1	0	0
IFLTD1	160492	broad.mit.edu	37	12	25699359	25699359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:25699359G>A	uc010sji.1	-	3	685	c.440C>T	c.(439-441)aCt>aTt	p.T147I	IFLTD1_uc001rgt.1_Missense_Mutation_p.T29I|IFLTD1_uc001rgs.2_Missense_Mutation_p.T126I|IFLTD1_uc010sjj.2_Missense_Mutation_p.T63I|IFLTD1_uc009zjc.2_Missense_Mutation_p.T147I	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.	126						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GTATTTTAAAGTTTTCTGAGT	0.363000														61			23		0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135447862	135447863	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135447862_135447863GG>AA	uc004cbn.3	+	6	976_977	c.928_929GG>AA	c.(928-930)ggg>AAg	p.G310K	C9orf171_uc004cbo.3_Missense_Mutation_p.G274K	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	310								p.Q309K(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CGTGCGCCAGGGGACCCTGCGG	0.599000														32			13		0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144800391	144800391	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144800391G>A	uc003yzj.3	+	3	246	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	69	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGAGTTTGGGGACCATCCCAA	0.592000														47			20		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56078540	56078540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:56078540C>T	uc010giw.1	-	9	1903	c.1792G>A	c.(1792-1794)Ggt>Agt	p.G598S	CTCFL_uc010gix.1_Missense_Mutation_p.G598S|CTCFL_uc002xym.2_Missense_Mutation_p.G598S|CTCFL_uc010gjb.1_Missense_Mutation_p.G598S|CTCFL_uc010gja.1_Missense_Mutation_p.G548S|CTCFL_uc010gjc.1_Missense_Mutation_p.G598S|CTCFL_uc010gjd.1_Missense_Mutation_p.G598S|CTCFL_uc010gje.3_Missense_Mutation_p.G598S|CTCFL_uc010gjg.3_Missense_Mutation_p.G330S|CTCFL_uc010gjf.3_Missense_Mutation_p.G393S|CTCFL_uc010giu.3_Non-coding_Transcript|CTCFL_uc010giv.3_Non-coding_Transcript	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	598					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCCTTCTGACCCTTTGTGGCT	0.498000														103			52		0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19703292	19703292	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:19703292C>T	uc022asn.1	+	15	2094	c.1963C>T	c.(1963-1965)Caa>Taa	p.Q655*	INTS10_uc003wzj.3_Nonsense_Mutation_p.Q654*	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	654					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		ACTACCCAATCAAGGAATGCT	0.398000														52			15		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18753417	18753417	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:18753417G>A	uc003zne.4	+	15	2280	c.2128G>A	c.(2128-2130)Gag>Aag	p.E710K		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	710	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTGGCTGATGAGCTGTGTCG	0.567000														13			8		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212800	62212800	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:62212800G>A	uc003xuh.3	+	1	738	c.414G>A	c.(412-414)agG>agA	p.R138R	CLVS1_uc003xug.2_Silent_p.R138R|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	138	CRAL-TRIO.				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						ATTACGGCAGGAAGATTCTTT	0.448000														49			4		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181732562	181732562	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181732562C>T	uc009wxt.3	+	33	4905	c.4710C>T	c.(4708-4710)ttC>ttT	p.F1570F	CACNA1E_uc001gow.3_Silent_p.F1570F|CACNA1E_uc009wxs.3_Silent_p.F1551F|CACNA1E_uc001gox.1_Silent_p.F796F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1570					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						CCAGTGGCTTCAATATGAGCT	0.433000														79			7		0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112693694	112693694	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:112693694G>A	uc003dzj.1	-	0	244	c.11C>T	c.(10-12)cCt>cTt	p.P4L	CD200R1_uc003dzk.1_Missense_Mutation_p.P4L|CD200R1_uc011bhx.1_Missense_Mutation_p.P4L|CD200R1_uc003dzl.1_Missense_Mutation_p.P4L|CD200R1_uc003dzm.1_Missense_Mutation_p.P4L	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.	4					interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						AGTTCTCCAAGGGCAGAGCAT	0.463000														48			9		0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614802	247614802	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247614802G>A	uc010pyx.2	-	0	483	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCACCTGCACGAAGGAGTTGC	0.602000														40			9		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523833	24523833	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:24523833G>A	uc002wtw.1	+	1	733	c.100G>A	c.(100-102)Gag>Aag	p.E34K		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	34					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CTTGATGGCCGAGAGCAGAGA	0.552000														88			28		0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57348915	57348915	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57348915G>A	uc001smi.4	-	1	519	c.347C>T	c.(346-348)tCc>tTc	p.S116F	RDH16_uc009zpa.3_Intron	NM_003708	NP_003699	O75452	RDH16_HUMAN	Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA.	116					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CGTGGGCAAGGAGATGCCAGC	0.552000														24			18		0	0	1	0	0
AUH	549	broad.mit.edu	37	9	94123928	94123928	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:94123928G>A	uc004arf.4	-	0	279	c.244C>T	c.(244-246)Ctg>Ttg	p.L82L	AUH_uc004arg.4_Silent_p.L82L|AUH_uc011ltu.1_Silent_p.L82L	NM_001698	NP_001689	Q13825	AUHM_HUMAN	Homo sapiens AU RNA binding protein/enoyl-CoA hydratase (AUH), nuclear gene encoding mitochondrial protein, mRNA.	82					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|mRNA 3'-UTR binding|methylglutaconyl-CoA hydratase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TCCTCCTCCAGGTGCCGCACC	0.716000														12			3		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76712688	76712688	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:76712688G>A	uc003pik.1	-	11	1368	c.1238C>T	c.(1237-1239)cCt>cTt	p.P413L		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	413					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTCAACAGGAGGAAGTTCTGG	0.423000														38			11		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39230162	39230162	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:39230162C>T	uc003cjk.2	-	1	1004	c.775G>A	c.(775-777)Gag>Aag	p.E259K	XIRP1_uc003cji.3_Missense_Mutation_p.E259K|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.E259K	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	259							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)		TGGATCTCCTCCCGGCATGCG	0.622000														91			37		0	0	1	0	0
FCGR1A	2209	broad.mit.edu	37	1	149759987	149759987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:149759987C>T	uc001esp.4	+	3	423	c.373C>T	c.(373-375)Cat>Tat	p.H125Y	HIST2H2BF_uc010pbj.2_Intron|FCGR1A_uc009wlh.1_Non-coding_Transcript	NM_000566	NP_000557	P12314	FCGR1_HUMAN	Homo sapiens Fc fragment of IgG, high affinity Ia, receptor (CD64) (FCGR1A), mRNA.	125	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				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)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTTGAGGTGTCATGCGTGGAA	0.438000														123			10		0	0	1	0	0
Y00482	0	broad.mit.edu	37	7	38389232	38389232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:38389232C>T	uc022aca.1	-	1	257	c.78G>A	c.(76-78)acG>acA	p.T26T	LOC100506776_uc003tgp.2_Intron					SubName: Full=T-cell gamma protein; Flags: Fragment;																		TGACTGACTTCGTTCCCCCTT	0.453000														61			24		0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207528044	207528044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:207528044C>T	uc002vbr.1	-	10	1333	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	406						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GGAACCTTTTCAGTTGAAGAA	0.448000														60			22		0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160920888	160920888	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160920888C>T	uc001fxd.3	-	3	444	c.386G>A	c.(385-387)tGg>tAg	p.W129*	ITLN2_uc009wts.3_Nonsense_Mutation_p.W128*|ITLN2_uc010pju.2_Nonsense_Mutation_p.W46*	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	129	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTAGTTGGCCCAGTTGCCATC	0.582000														85			30		0	0	1	0	0
H2BFWT	158983	broad.mit.edu	37	X	103268164	103268164	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:103268164C>T	uc004elr.3	-	0	93	c.69G>A	c.(67-69)atG>atA	p.M23I		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA.	23					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGGCAGTGGCCATTAGATGGC	0.617000														13			13		0	0	1	0	0
C10orf28	27291	broad.mit.edu	37	10	99968552	99968552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:99968552C>T	uc001kox.4	+	4	1031	c.681C>T	c.(679-681)gtC>gtT	p.V227V	C10orf28_uc001kow.4_Silent_p.V227V|C10orf28_uc001koy.4_Silent_p.V227V|C10orf28_uc009xvx.3_Silent_p.V227V|C10orf28_uc009xvy.3_Intron|C10orf28_uc001koz.4_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	Homo sapiens chromosome 10 open reading frame 28 (C10orf28), mRNA.	227							nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)	20		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		TTAGTTCTGTCATGAAACCTG	0.353000														59			33		0	0	1	0	0
WNT1	7471	broad.mit.edu	37	12	49373260	49373260	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49373260G>A	uc001rsu.3	+	1	312	c.114G>A	c.(112-114)gtG>gtA	p.V38V		NM_005430	NP_005421	P04628	WNT1_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 1 (WNT1), mRNA.	38					Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of DNA damage checkpoint|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of Notch signaling pathway|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		GGGGTATTGTGAACGTAGCCT	0.567000														101			44		0	0	1	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6948775	6948775	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:6948775C>T	uc004frb.3	+	13	1605	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S	TBL1Y_uc004frc.3_Missense_Mutation_p.P320S|TBL1Y_uc004frd.3_Missense_Mutation_p.P320S|TBL1Y_uc011nap.2_Missense_Mutation_p.P162S	NM_033284	NP_599021	Q9BQ87	TBL1Y_HUMAN	Homo sapiens transducin (beta)-like 1, Y-linked (TBL1Y), transcript variant 1, mRNA.	320					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						TGCTGCAGCCCCCGCCCTTGA	0.507000														21			28		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10092766	10092766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10092766C>T	uc002mmq.1	-	31	2521	c.2435G>A	c.(2434-2436)gGa>gAa	p.G812E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	812	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)			TCCTATGGGTCCCAGGGGACC	0.537000														45			15		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113403696	113403696	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113403696C>T	uc001tug.3	+	11	2638	c.2551C>T	c.(2551-2553)Caa>Taa	p.Q851*		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	851	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GGAGGCATGTCAACAGGAGCG	0.582000														20			6		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119451284	119451284	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:119451284G>A	uc003ede.4	+	8	1239	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N	C3orf15_uc010hqy.2_Missense_Mutation_p.D388N|C3orf15_uc010hqz.3_Missense_Mutation_p.D326N|C3orf15_uc011bjd.2_Missense_Mutation_p.D262N|C3orf15_uc011bje.2_Missense_Mutation_p.D368N|C3orf15_uc010hra.2_Missense_Mutation_p.D149N	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	0						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		CAACTCAGAGGACTTTGTAGT	0.358000														42			15		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73464826	73464826	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73464826G>A	uc001jrx.4	+	23	3276	c.2886G>A	c.(2884-2886)cgG>cgA	p.R962R	CDH23_uc001jry.3_Silent_p.R962R|CDH23_uc001jrz.3_Silent_p.R962R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	964	Cadherin 9.				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						ACCAGCTGCGGGTGGTGGCCA	0.662000														49			21		0	0	1	0	0
C11orf88	399949	broad.mit.edu	37	11	111385654	111385654	+	Missense_Mutation	SNP	C	T	T	rs4418847		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:111385654C>T	uc009yyd.3	+	0	145	c.145C>T	c.(145-147)Cct>Tct	p.P49S	BTG4_uc001plj.3_5'Flank|BTG4_uc001plk.3_5'Flank|C11orf88_uc001plo.1_Missense_Mutation_p.P49S|C11orf88_uc001pln.4_Missense_Mutation_p.P49S	NM_207430	NP_997313	Q6PI97	CK088_HUMAN	Homo sapiens chromosome 11 open reading frame 88 (C11orf88), transcript variant 1, mRNA.	49										endometrium(1)|large_intestine(3)|lung(2)	6						GATGTATCCCCCTAGCGAATC	0.597000											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		78			17		0	0	1	0	0
CDA	978	broad.mit.edu	37	1	20915652	20915652	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:20915652G>A	uc001bdk.3	+	0	209	c.30G>A	c.(28-30)ctG>ctA	p.L10L	CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	NM_001785	NP_001776	P32320	CDD_HUMAN	Homo sapiens cytidine deaminase (CDA), mRNA.	10					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	CCTGCACCCTGAAGCCTGAGT	0.652000														72			13		0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518107	108518107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:108518107C>T	uc001vql.3	-	0	1354	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	280						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCAAACTCTTCGTATTTCTCC	0.527000														82			41		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451950	19451950	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19451950C>T	uc002dgc.4	+	2	1339	c.590C>T	c.(589-591)cCa>cTa	p.P197L	TMC5_uc010vaq.2_Missense_Mutation_p.P197L|TMC5_uc002dgb.4_Missense_Mutation_p.P197L|TMC5_uc010var.2_Missense_Mutation_p.P197L	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	197						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						AGAATCAATCCATACGCAGAC	0.488000														112			19		0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132826487	132826487	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:132826487A>G	uc010nrn.2	-	5	1468	c.1271T>C	c.(1270-1272)tTc>tCc	p.F424S	GPC3_uc004exe.2_Missense_Mutation_p.F401S|GPC3_uc011mvh.2_Missense_Mutation_p.F385S|GPC3_uc010nro.2_Missense_Mutation_p.F347S|GPC3_uc010nrp.2_Missense_Mutation_p.F273S	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	401						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGCACTATAGAAGCTGATGAA	0.413000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					31			41		0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2995949	2995949	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:2995949G>A	uc010vrb.2	-	0	342	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	114					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TCACAGCCAGGATGAGGTTGT	0.542000														65			52		0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043180	56043180	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56043180C>T	uc001nio.1	+	0	66	c.66C>T	c.(64-66)acC>acT	p.T22T		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTGAAGTCACCATGTTTATAT	0.299000														148			28		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12445349	12445349	+	Missense_Mutation	SNP	C	T	T	rs147684777		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12445349C>T	uc001atv.3	+	58	11542	c.11401C>T	c.(11401-11403)Cgt>Tgt	p.R3801C	VPS13D_uc001atw.3_Missense_Mutation_p.R3776C|VPS13D_uc001atx.3_Missense_Mutation_p.R2988C|VPS13D_uc009vnl.3_Non-coding_Transcript	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3800					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAAAGCAGCCGTTCATATGA	0.393000														66			5		0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102270432	102270432	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:102270432G>A	uc001duf.2	-	5	870	c.799C>T	c.(799-801)Cgt>Tgt	p.R267C	OLFM3_uc001dug.2_Missense_Mutation_p.R247C|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Missense_Mutation_p.R172C|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	267	Olfactomedin-like.					extracellular region		p.R267S(1)|p.R247S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TTGTATTCACGAACAATTTTA	0.378000														68			30		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88258513	88258513	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:88258513C>T	uc001pcq.3	-	7	2890	c.2690G>A	c.(2689-2691)gGg>gAg	p.G897E	GRM5_uc009yvm.3_Intron	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	897					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CCCCATACTCCCTTTGGGGGT	0.483000														304			116		0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71191790	71191790	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:71191790C>T	uc003pfj.3	+	7	889	c.756C>T	c.(754-756)ttC>ttT	p.F252F	FAM135A_uc003pfi.3_Silent_p.F252F|FAM135A_uc003pfh.3_Silent_p.F209F|FAM135A_uc003pfk.3_Silent_p.F252F|FAM135A_uc003pfl.3_Silent_p.F89F|FAM135A_uc003pfm.1_5'UTR	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	252										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TGCTAGCCTTCAAGGGATTGC	0.393000														62			30		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91805699	91805699	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:91805699G>A	uc010aty.3	-	7	886	c.732C>T	c.(730-732)ctC>ctT	p.L244L	CCDC88C_uc010twk.1_Silent_p.L208L	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	244					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTTCGCTAGAGAGGCTGCTGG	0.657000														27			7		0	0	1	0	0
SPATA19	219938	broad.mit.edu	37	11	133714162	133714162	+	Missense_Mutation	SNP	C	T	T	rs138223153		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:133714162C>T	uc001qgv.1	-	3	389	c.338G>A	c.(337-339)cGa>cAa	p.R113Q		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA.	113					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GAACTGGATTCGTGTTCTCTC	0.537000														95			30		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16910772	16910772	+	Missense_Mutation	SNP	C	T	T	rs140495987		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16910772C>T	uc002neu.4	+	16	3957	c.3535C>T	c.(3535-3537)Cgc>Tgc	p.R1179C	NWD1_uc002net.4_Missense_Mutation_p.R1044C|NWD1_uc002nev.4_Missense_Mutation_p.R973C|NWD1_uc021uqg.1_Missense_Mutation_p.R1044C	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1179							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						CCTGCTGGCCCGCGGCGGGGC	0.622000														63			17		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30830929	30830929	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:30830929C>T	uc003tbt.3	+	4	889	c.812C>T	c.(811-813)tCc>tTc	p.S271F	FAM188B_uc010kwe.3_Missense_Mutation_p.S242F	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	271										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCAGGACCTCCCTGGGTCAG	0.607000														74			39		0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3030524	3030524	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:3030524G>A	uc022brz.1	+	10	1836	c.1700G>A	c.(1699-1701)gGg>gAg	p.G567E	ARSF_uc004cre.2_Missense_Mutation_p.G567E|ARSF_uc004crf.2_Missense_Mutation_p.G567E	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	567						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTTGCTGTGGGGTGTTCCCA	0.532000														15			26		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157414071	157414071	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:157414071G>A	uc003wno.3	-	14	2448	c.2327C>T	c.(2326-2328)tCc>tTc	p.S776F	PTPRN2_uc003wnp.3_Missense_Mutation_p.S759F|PTPRN2_uc003wnq.3_Missense_Mutation_p.S747F|PTPRN2_uc003wnr.3_Missense_Mutation_p.S738F|PTPRN2_uc011kwa.2_Missense_Mutation_p.S799F	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	776	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CACGGCCAGGGAGCGGTTCTT	0.662000														207			75		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485261	97485261	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:97485261G>A	uc001vmw.3	+	1	1249	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	409						integral to membrane	sulfotransferase activity	p.E409D(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GCAGCTTTACGAGTATGCAAA	0.572000														98			38		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14806731	14806731	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:14806731G>A	uc003zlm.3	-	18	4018	c.3202C>T	c.(3202-3204)Cct>Tct	p.P1068S	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1068					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAAACTGAGGAGGAGAAACC	0.448000														14			3		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151167023	151167023	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151167023G>A	uc011bod.2	-	3	746	c.746C>T	c.(745-747)cCc>cTc	p.P249L		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	249	LRRCT.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCACTAGAGGGACTTCTATC	0.398000														63			29		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830199	13830199	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13830199G>A	uc003jfd.2	-	36	6227	c.6185C>T	c.(6184-6186)tCt>tTt	p.S2062F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2062	AAA 1 (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)					AAAGATAAAAGACTTTTTGTG	0.383000									Kartagener syndrome					56			13		0	0	1	0	0
KLHL10	317719	broad.mit.edu	37	17	40001727	40001727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:40001727G>A	uc010cxr.3	+	2	1176	c.1034G>A	c.(1033-1035)gGg>gAg	p.G345E	KLHL10_uc010wfv.1_Missense_Mutation_p.G339E|KLHL10_uc010wfw.2_Missense_Mutation_p.G257E	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	Homo sapiens kelch-like 10 (Drosophila) (KLHL10), mRNA.	345						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TATATCATTGGGGGGTTTGAT	0.488000														81			7		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582564	136582564	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:136582564G>A	uc003qgx.1	-	11	2849	c.2596C>T	c.(2596-2598)Cgt>Tgt	p.R866C	BCLAF1_uc011edb.1_Missense_Mutation_p.R145C|BCLAF1_uc003qgy.1_Missense_Mutation_p.R815C|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R864C|BCLAF1_uc003qgw.1_Missense_Mutation_p.R693C	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	866					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAAGTACCACGACCTCTTCCT	0.408000														310			55		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76450701	76450701	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76450701G>A	uc010dhp.2	-	63	10382	c.10257C>T	c.(10255-10257)ctC>ctT	p.L3419L	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTCGCTGGGGAGGCCCTGGT	0.642000														43			25		0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155150523	155150523	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155150523G>A	uc001fhs.1	+	5	1038	c.955G>A	c.(955-957)Ggg>Agg	p.G319R	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.G319R|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.G193R|TRIM46_uc001fhu.1_Missense_Mutation_p.G296R|TRIM46_uc009wpg.1_Missense_Mutation_p.G306R|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	319						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGTGCGGGGGCTGGGGGC	0.617000														39			19		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698514	96698514	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96698514G>A	uc001kka.4	+	0	100	c.75G>A	c.(73-75)ggG>ggA	p.G25G	CYP2C9_uc009xut.3_Silent_p.G25G|CYP2C9_uc001kjz.3_Silent_p.G25G	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	25					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGAGCTCTGGGAGAGGAAAAC	0.453000														184			12		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42414957	42414957	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:42414957C>T	uc003gwr.2	-	36	3703	c.3471G>A	c.(3469-3471)acG>acA	p.T1157T	ATP8A1_uc003gwq.2_Silent_p.T383T|ATP8A1_uc003gws.2_Silent_p.T1142T|ATP8A1_uc021xnv.1_5'Flank	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	1157					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.T1157T(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCCTCTGTTTCGTGGTATCAT	0.458000														46			17		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184103895	184103895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:184103895C>T	uc003fov.3	+	14	2126	c.1880C>T	c.(1879-1881)gCc>gTc	p.A627V	CHRD_uc003fow.3_Missense_Mutation_p.A257V|CHRD_uc003fox.3_Missense_Mutation_p.A627V|CHRD_uc003foy.3_Missense_Mutation_p.A257V|CHRD_uc010hyc.3_Missense_Mutation_p.A217V|CHRD_uc011brr.2_Missense_Mutation_p.A257V	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	627	CHRD 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAAGGCATGGCCTCCCTGATG	0.617000														80			29		0	0	1	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293708	71293708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:71293708G>A	uc001oqu.3	-	0	214	c.176C>T	c.(175-177)tCc>tTc	p.S59F		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA.	59	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCCCCCACAGGAGCCACAGCT	0.632000														261			18		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106865267	106865267	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106865267C>T	uc001kyi.1	+	6	1433	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	402						integral to membrane	neuropeptide receptor activity	p.I401T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AATATATCTTCATTCAGGTGA	0.502000														128			35		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102175092	102175092	+	Missense_Mutation	SNP	G	A	A	rs149996665		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:102175092G>A	uc003dvt.1	+	3	531	c.431G>A	c.(430-432)gGa>gAa	p.G144E	ZPLD1_uc003dvs.1_Missense_Mutation_p.G128E|ZPLD1_uc011bhg.1_Missense_Mutation_p.G128E	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	128	ZP.					integral to membrane		p.G144E(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GTGCAAGTAGGAAATATTTCA	0.358000														102			48		0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54963357	54963357	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54963357C>T	uc002qfv.1	+	2	270	c.126C>T	c.(124-126)gcC>gcT	p.A42A	LENG8_uc002qfw.2_Silent_p.A42A			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	42							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGGAGAAGGCCCGTCAGGCCC	0.637000														79			26		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141497337	141497337	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:141497337C>T	uc011bnd.2	+	0	295	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	71	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CCGCCTCTTCCGTGACTTCCT	0.662000														22			15		0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112720813	112720813	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:112720813G>A	uc003kql.4	-	1	683	c.267C>T	c.(265-267)tcC>tcT	p.S89S	MCC_uc003kqk.4_Non-coding_Transcript	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	0					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.V88I(2)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AATCCTGAAAGGAAATCTTCC	0.448000														104			45		0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41003708	41003708	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:41003708G>A	uc002ibv.3	+	0	508	c.348G>A	c.(346-348)ggG>ggA	p.G116G		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	116					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.G116R(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TGGACAGGGGGAGCCCCCCAC	0.667000														31			22		0	0	1	0	0
C6orf162	57150	broad.mit.edu	37	6	88046769	88046769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:88046769C>T	uc003plp.1	+	2	109	c.20C>T	c.(19-21)cCt>cTt	p.P7L	C6orf162_uc021zck.1_Non-coding_Transcript|C6orf162_uc003plq.1_Missense_Mutation_p.P7L	NM_001042493	NP_065158	Q96KF7	CF162_HUMAN	Homo sapiens chromosome 6 open reading frame 162 (C6orf162), transcript variant 1, mRNA.	7						integral to membrane				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0164)		GCACCTGAGCCTCCAACATTC	0.383000														66			16		0	0	1	0	0
IFIT1B	439996	broad.mit.edu	37	10	91143629	91143629	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:91143629C>T	uc001kgh.3	+	1	639	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA.	187							binding			endometrium(2)|large_intestine(3)|lung(8)	13						CACCGTCTATCGCCTGGATAA	0.438000														229			110		0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9623815	9623815	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:9623815T>G	uc003wss.3	+	24	3625	c.3620T>G	c.(3619-3621)aTg>aGg	p.M1207R	TNKS_uc011kww.2_Missense_Mutation_p.M970R	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	1207	PARP catalytic.				Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.G1206R(1)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATAGGAGGAATGTTTGGGGCC	0.408000														117			52		0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14752260	14752260	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:14752260G>A	uc002mzi.4	-	9	1367	c.1219C>T	c.(1219-1221)Ctc>Ttc	p.L407F	EMR3_uc010dzp.3_Missense_Mutation_p.L355F|EMR3_uc010xnv.2_Missense_Mutation_p.L281F	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	407					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						ATCCCCACGAGGAAGAGGAGG	0.567000														74			20		0	0	1	0	0
RIOK3	8780	broad.mit.edu	37	18	21044179	21044179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:21044179C>T	uc002kui.4	+	3	952	c.335C>T	c.(334-336)tCc>tTc	p.S112F	RIOK3_uc010dls.3_Missense_Mutation_p.S112F|RIOK3_uc010xas.2_Missense_Mutation_p.S96F|RIOK3_uc010xat.2_5'Flank	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	112					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTTTCCATTTCCTTTGAAAAT	0.373000														42			9		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124402853	124402853	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124402853A>G	uc001lgk.1	+	52	7287	c.7181A>G	c.(7180-7182)gAc>gGc	p.D2394G	DMBT1_uc001lgl.1_Missense_Mutation_p.D2384G|DMBT1_uc001lgm.1_Missense_Mutation_p.D1766G|DMBT1_uc021qaf.1_Missense_Mutation_p.D2394G|DMBT1_uc021qag.1_Missense_Mutation_p.D2384G|DMBT1_uc021qah.1_Missense_Mutation_p.D1766G|DMBT1_uc009xzz.1_Missense_Mutation_p.D2393G|DMBT1_uc010qtx.1_Missense_Mutation_p.D1114G|DMBT1_uc009yab.1_Missense_Mutation_p.D1097G|DMBT1_uc009yac.1_Missense_Mutation_p.D688G	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2394					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GAAAAGGTGGACGTCGTCCTG	0.627000														42			21		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137681046	137681046	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:137681046G>A	uc004cfe.3	+	31	3074	c.2692G>A	c.(2692-2694)Ggc>Agc	p.G898S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	898	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGGAGAGAAGGGCGGCAGGGT	0.572000														22			15		0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29493334	29493334	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29493334G>A	uc002kxc.4	-	4	1133	c.769C>T	c.(769-771)Cag>Tag	p.Q257*	TRAPPC8_uc002kxb.4_Nonsense_Mutation_p.Q203*|TRAPPC8_uc002kxd.4_Non-coding_Transcript|TRAPPC8_uc021uio.1_Nonsense_Mutation_p.Q257*|TRAPPC8_uc002kxe.2_Nonsense_Mutation_p.Q257*	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	257					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACATATACCTGGTTTTGAATA	0.294000														61			8		0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74708868	74708868	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:74708868G>A	uc002fdb.2	-	9	1812	c.1371C>T	c.(1369-1371)ccC>ccT	p.P457P	MLKL_uc002fdc.2_Silent_p.P249P	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	457	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CATCCACAGAGGGCCGCACAG	0.542000														55			24		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13823467	13823467	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13823467C>T	uc003jfd.2	-	39	6634	c.6592G>A	c.(6592-6594)Gaa>Aaa	p.E2198K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2198					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)					AACAAGGGTTCATCCTCATCA	0.368000									Kartagener syndrome					89			27		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64675261	64675261	+	Silent	SNP	G	A	A	rs112442396		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64675261G>A	uc001obx.3	-	16	2581	c.2466C>T	c.(2464-2466)atC>atT	p.I822I		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	822							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGGGCAGAAAGATGTGGACAC	0.632000														24			7		0	0	1	0	0
GLS2	27165	broad.mit.edu	37	12	56868895	56868895	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56868895C>T	uc001slj.3	-	10	1209	c.930_splice	c.e10-1	p.T310_splice	GLS2_uc021qzb.1_Splice_Site_p.T273_splice|GLS2_uc021qzc.1_Intron|GLS2_uc021qzd.1_Splice_Site_p.T45_splice|GLS2_uc009zos.3_Non-coding_Transcript|GLS2_uc001slk.3_Splice_Site_p.T45_splice|GLS2_uc009zot.3_Intron	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	Homo sapiens glutaminase 2 (liver, mitochondrial) (GLS2), nuclear gene encoding mitochondrial protein, mRNA.	310					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGACTGGAATCTGAAGCAAAC	0.468000														133			66		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57437748	57437748	+	Nonsense_Mutation	SNP	G	A	A	rs138607619		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57437748G>A	uc001smw.4	-	9	1024	c.784C>T	c.(784-786)Cga>Tga	p.R262*	MYO1A_uc010sqz.2_Nonsense_Mutation_p.R100*|MYO1A_uc009zpd.3_Nonsense_Mutation_p.R262*	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	262	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGCACTTGTCGAATCTCCTCC	0.517000														66			29		0	0	1	0	0
LHFPL4	375323	broad.mit.edu	37	3	9547825	9547825	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:9547825C>T	uc003bry.3	-	2	755	c.469G>A	c.(469-471)Gac>Aac	p.D157N		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	157						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CCACACATGTCCCGGATGGTC	0.632000														84			10		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67555523	67555523	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:67555523G>A	uc002aqo.2	+	2	335	c.238G>A	c.(238-240)Gag>Aag	p.E80K	IQCH_uc010ujv.2_5'UTR|IQCH_uc002aqn.2_Intron|IQCH_uc002aqp.2_Intron|IQCH_uc002aqq.2_Intron|IQCH_uc002aqm.3_Missense_Mutation_p.E80K	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	80										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TGTTAATGATGAGAGCTTATA	0.323000														77			19		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326351	152326351	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152326351C>T	uc001ezw.4	-	2	3984	c.3911G>A	c.(3910-3912)gGa>gAa	p.G1304E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1304							calcium ion binding|structural molecule activity	p.G1304A(2)		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)			AACTGTGGATCCTGACTTTGG	0.478000														287			68		0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123333775	123333775	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:123333775G>A	uc003ieo.3	+	9	1292	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	ADAD1_uc003iep.3_Missense_Mutation_p.E343K|ADAD1_uc003ieq.3_Missense_Mutation_p.E336K	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	354	A to I editase.				RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGAAGCCAATGAAGAACTCTG	0.358000														175			17		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125094666	125094666	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:125094666G>A	uc003yqw.3	+	32	4564	c.4358G>A	c.(4357-4359)cGa>cAa	p.R1453Q	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1453						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGCAAACACCGAGCCATCTGT	0.498000														122			70		0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178562106	178562106	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:178562106G>A	uc002ulq.3	-	14	2617	c.2299C>T	c.(2299-2301)Ctt>Ttt	p.L767F	PDE11A_uc002ulp.3_Missense_Mutation_p.L323F|PDE11A_uc002ulr.3_Missense_Mutation_p.L517F|PDE11A_uc002uls.1_Missense_Mutation_p.L409F|PDE11A_uc002ult.1_Missense_Mutation_p.L517F|PDE11A_uc002ulu.1_Missense_Mutation_p.L409F	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	767	Catalytic (By similarity).				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)			TGCTTCAAAAGCTGCATAAGG	0.383000									Primary Pigmented Nodular Adrenocortical Disease, Familial					90			15		0	0	1	0	0
CDK9	1025	broad.mit.edu	37	9	130550648	130550648	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130550648C>T	uc004bse.2	+	4	711	c.588C>T	c.(586-588)ccC>ccT	p.P196P		NM_001261	NP_001252	P50750	CDK9_HUMAN	Homo sapiens cyclin-dependent kinase 9 (CDK9), mRNA.	196	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|DNA binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						GGTACCGGCCCCCGGAGCTGT	0.667000														17			6		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184104544	184104544	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:184104544G>A	uc003fov.3	+	16	2442	c.2196_splice	c.e16+1	p.Q732_splice	CHRD_uc003fow.3_Splice_Site_p.Q362_splice|CHRD_uc003fox.3_Splice_Site_p.Q732_splice|CHRD_uc003foy.3_Splice_Site_p.Q362_splice|CHRD_uc010hyc.3_Splice_Site_p.Q322_splice|CHRD_uc011brr.2_Intron	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	732	VWFC 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACCTGCCAGGTAGGAGGTCC	0.657000														10			4		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128324336	128324337	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:128324336_128324337GG>AA	uc003kuy.3	+	3	1125_1126	c.729_730GG>AA	c.(727-732)aggggt>agAAgt	p.G244S	SLC27A6_uc003kuz.3_Missense_Mutation_p.G244S	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	244					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGGTTTTAAGGGGTTCTGCTGT	0.396000														126			53		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543152	133543152	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:133543152C>T	uc002ttp.3	-	13	1606	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	411							protein binding	p.R411*(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TAACACTTTTCGCTTCTGTAG	0.413000														55			27		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79343107	79343107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:79343107C>T	uc003hlb.2	+	33	5071	c.4631C>T	c.(4630-4632)cCc>cTc	p.P1544L	FRAS1_uc003hkw.3_Missense_Mutation_p.P1544L|FRAS1_uc010ijj.2_Intron	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1543					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TACCGCCCTCCCCCGGCAGCA	0.572000														144			61		0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282416	59282416	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59282416G>A	uc010rkv.2	+	0	31	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CAGAGTGAAAGAATTTACCTT	0.378000														111			48		0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37414539	37414539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:37414539C>T	uc002rpu.3	-	1	178	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	SULT6B1_uc010yni.2_Non-coding_Transcript	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA.	91						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				ACTGGGAATTCTGGATATTTA	0.323000														62			7		0	0	1	0	0
SRSF6	6431	broad.mit.edu	37	20	42088473	42088473	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42088473C>T	uc010zwg.2	+	2	489	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	SRSF6_uc002xki.3_5'UTR	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	Homo sapiens serine/arginine-rich splicing factor 6 (SRSF6), transcript variant 1, mRNA.	107					mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding	p.R107C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						ACCACCTGTTCGTACAGAATA	0.393000														111			37		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10933857	10933857	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:10933857C>T	uc002yip.1	-	16	1390	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.G323D|TPTE_uc002yir.1_Missense_Mutation_p.G303D|TPTE_uc010gkv.1_Missense_Mutation_p.G203D	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	341	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		ATTACCTGTGCCTCCTTTACA	0.328000														281			23		0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56681165	56681165	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:56681165A>G	uc003did.4	-	13	1701	c.1600T>C	c.(1600-1602)Tct>Cct	p.S534P	FAM208A_uc003dic.4_Missense_Mutation_p.S138P|FAM208A_uc003die.4_Missense_Mutation_p.S534P	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	Homo sapiens family with sequence similarity 208, member A (FAM208A), transcript variant 2, mRNA.	534										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TGAATCAAAGAAAATTGTAAA	0.338000														88			25		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140397412	140397412	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:140397412C>T	uc003eto.2	+	1	547	c.341_splice	c.e1+1	p.S114_splice		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	114						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATCCATACCTCGTAAGTGCCA	0.562000														18			8		0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12983267	12983267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:12983267G>A	uc003bxt.2	-	1	173	c.164C>T	c.(163-165)cCg>cTg	p.P55L	IQSEC1_uc003bxu.3_5'UTR|IQSEC1_uc011auw.1_Missense_Mutation_p.P41L	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	55					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTAGTGATCCGGGCTCAGGCT	0.697000														24			9		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196965187	196965187	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:196965187G>A	uc001gts.4	+	5	954	c.826G>A	c.(826-828)Gag>Aag	p.E276K		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	276	Sushi 5.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACCTGAACTCGAGTACGGTTA	0.348000														114			37		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41608021	41608021	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:41608021G>A	uc003gvz.4	+	4	426	c.9_splice	c.e4+1	p.K3_splice	LIMCH1_uc003gvt.1_Splice_Site_p.K3_splice|LIMCH1_uc003gwe.4_Splice_Site_p.K162_splice|LIMCH1_uc003gvu.4_Splice_Site_p.K162_splice|LIMCH1_uc003gvv.4_Splice_Site_p.K162_splice|LIMCH1_uc003gvw.4_Splice_Site_p.K162_splice|LIMCH1_uc003gvx.4_Splice_Site_p.K162_splice|LIMCH1_uc003gvy.4_Splice_Site_p.K3_splice|LIMCH1_uc003gwa.4_Splice_Site_p.K3_splice	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	162					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AGATGCGAAAGGTAACTTGGC	0.433000														31			10		0	0	1	0	0
ZDHHC11	79844	broad.mit.edu	37	5	843767	843767	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:843767G>A	uc011cma.1	-	3	960	c.576C>T	c.(574-576)ctC>ctT	p.L192L	ZDHHC11_uc010itd.1_5'Flank|ZDHHC11_uc003jbk.3_5'UTR	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.	192						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GGTACTGGACGAGGACATACA	0.647000														37			9		0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	31144214	31144214	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:31144214C>T	uc021xnd.1	+	2	4519	c.3511C>T	c.(3511-3513)Cag>Tag	p.Q1171*	PCDH7_uc011bxx.2_Nonsense_Mutation_p.Q1163*	NM_001173523	NP_001166994	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant d, mRNA.	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.E1170*(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GAAGAAGAGCCAGCCTAAACT	0.562000														119			48		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934929	28934929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28934929G>A	uc002kwp.3	+	14	2982	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K	DSG1_uc010xbp.2_Missense_Mutation_p.E283K	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	924					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)			GGTAGTGACAGAAAGAGTAAT	0.453000														185			48		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93104332	93104332	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:93104332C>T	uc001pdq.3	+	6	775	c.675C>T	c.(673-675)ttC>ttT	p.F225F	CCDC67_uc001pdo.1_Silent_p.F225F|CCDC67_uc001pdp.3_Silent_p.F225F	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	225										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GAGATGAGTTCATTATTGAAA	0.348000														19			10		0	0	1	0	0
GALNT3	2591	broad.mit.edu	37	2	166611219	166611219	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166611219G>T	uc010fph.1	-	8	1931	c.1544C>A	c.(1543-1545)cCt>cAt	p.P515H		NM_004482	NP_004473	Q14435	GALT3_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.	515	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CAGACATAGAGGCTGACCAAC	0.313000														18			7		8.12818e-05	8.13966e-05	1	1	0
MARCH10	162333	broad.mit.edu	37	17	60814507	60814507	+	Missense_Mutation	SNP	C	T	T	rs17853369		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:60814507C>T	uc010dds.3	-	6	1121	c.836G>A	c.(835-837)gGa>gAa	p.G279E	MARCH10_uc010ddr.3_Missense_Mutation_p.G241E|MARCH10_uc002jag.4_Missense_Mutation_p.G241E|MARCH10_uc002jah.2_Missense_Mutation_p.G240E|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	241							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ACTATTTTTTCCTTGGAAGGC	0.532000														127			48		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87969864	87969864	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:87969864C>T	uc003plm.4	+	7	6558	c.6517C>T	c.(6517-6519)Cga>Tga	p.R2173*		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAAAGAATTTCGATGTCAGGT	0.368000														112			60		0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29630153	29630153	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:29630153G>A	uc003aem.3	+	10	1069	c.994G>A	c.(994-996)Gga>Aga	p.G332R	EMID1_uc003aen.3_Missense_Mutation_p.G330R|EMID1_uc021wnr.1_Missense_Mutation_p.G29R	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	Homo sapiens EMI domain containing 1 (EMID1), mRNA.	330	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TGGACCCAAAGGAATCTCTGG	0.642000														12			5		0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44102413	44102413	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:44102413C>T	uc002rtq.3	+	10	1707	c.1617C>T	c.(1615-1617)gtC>gtT	p.V539V	ABCG8_uc010yoa.2_Silent_p.V538V	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	539	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.V538G(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGCTGGTGGTCTTCTGTTGCA	0.612000														95			13		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400660	85400661	+	Silent	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:85400660_85400661CC>TT	uc002ble.3	+	5	3464_3465	c.3297_3298CC>TT	c.(3295-3300)ttcctg>ttTTtg	p.1099_1100FL>FL		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1099					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)			CAGCCACCTTCCTGCCCTCTGA	0.624000														76			22		0	0	1	0	0
STAC3	246329	broad.mit.edu	37	12	57643365	57643365	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57643365G>A	uc001snp.2	-	1	257	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	R3HDM2_uc010srn.1_Non-coding_Transcript|STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Intron|STAC3_uc010srm.1_Intron	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	Homo sapiens SH3 and cysteine rich domain 3 (STAC3), mRNA.	19					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CCACTTTGCCGAGTCTCTGCT	0.522000														67			27		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34493208	34493208	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:34493208C>T	uc003zum.3	+	8	891	c.698C>T	c.(697-699)gCc>gTc	p.A233V		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	233					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		ATCTATGATGCCTATGTAGAG	0.453000									Kartagener syndrome					91			16		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57399115	57399115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57399115G>A	uc001cyp.3	-	9	1512	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	C8B_uc010oon.2_Missense_Mutation_p.S420F|C8B_uc010ooo.2_Missense_Mutation_p.S430F	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	482	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CACTGTGCTGGAATAGGCAAA	0.473000														45			18		0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50658827	50658827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50658827G>A	uc003bkb.1	-	15	4473	c.3961C>T	c.(3961-3963)Ctg>Ttg	p.L1321L	TUBGCP6_uc003bka.1_Silent_p.L408L|TUBGCP6_uc010har.1_Silent_p.L1313L|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1321					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)		TCTACAGGCAGCCGTGGCCCA	0.682000														33			11		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128362842	128362842	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:128362842C>T	uc003kuy.3	+	7	1668	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L	SLC27A6_uc003kuz.3_Silent_p.L424L	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	424					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CTGGACTTCTCATTTCTCGAG	0.378000														92			40		0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5344952	5344952	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5344952G>A	uc001mao.1	-	0	631	c.576C>T	c.(574-576)ttC>ttT	p.F192F	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.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F192L(2)		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)		AAAGTCTATTGAAAGTTATGT	0.363000														46			20		0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114261086	114261086	+	Silent	SNP	G	A	A	rs140794490		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:114261086G>A	uc009zwi.2	-	23	2970	c.2826C>T	c.(2824-2826)atC>atT	p.I942I	RBM19_uc001tvn.4_Silent_p.I942I|RBM19_uc001tvm.3_Silent_p.I942I	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	942					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCTGCTCCAGGATCTCGTCCA	0.632000														55			8		0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65715015	65715015	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65715015G>A	uc001ogk.1	+	3	748	c.716G>A	c.(715-717)aGg>aAg	p.R239K	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	240										endometrium(2)|kidney(3)|lung(9)	14						CGCCCCAGGAGGGGGTCGATC	0.632000														43			16		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878721	24878721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24878721G>A	uc001wpf.4	+	3	2039	c.1721G>A	c.(1720-1722)cGa>cAa	p.R574Q		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	574					DNA integration	integral to membrane	DNA binding	p.R574*(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTACATCTCGAATGATGCTG	0.527000														23			8		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19571806	19571806	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:19571806C>T	uc003jgd.3	-	7	1669	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	CDH18_uc011cnm.2_Missense_Mutation_p.E379K|CDH18_uc003jgc.3_Missense_Mutation_p.E379K|CDH18_uc021xwu.1_Missense_Mutation_p.E379K	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	379	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGTGGTGGTTCATCTACATCC	0.428000														69			19		0	0	1	0	0
CELF5	60680	broad.mit.edu	37	19	3284932	3284932	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3284932C>T	uc002lxm.3	+	8	1109	c.1072C>T	c.(1072-1074)Cct>Tct	p.P358S	CELF5_uc010dtj.2_Missense_Mutation_p.P333S|CELF5_uc002lxl.2_Missense_Mutation_p.P358S|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	358					mRNA processing	cytoplasm|nucleus	RNA binding|nucleotide binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GACACTGCATCCTGCCTTCTC	0.711000														21			3		0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588857	72588857	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72588857C>T	uc002jla.1	+	2	1034	c.672C>T	c.(670-672)tcC>tcT	p.S224S	CD300LD_uc002jkz.2_5'Flank|C17orf77_uc021ucq.1_Silent_p.S224S	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA.	224						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TTGCCTCTTCCTGCCCTGGGC	0.572000														73			23		0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109271457	109271457	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:109271457G>A	uc001dvx.3	+	7	1573	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K	FNDC7_uc010ova.2_Missense_Mutation_p.E292K	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	526	Fibronectin type-III 6.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TGCTGTGGCCGAAACACAGGC	0.577000														52			24		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16126970	16126970	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:16126970C>T	uc010bvi.3	+	5	795	c.620C>T	c.(619-621)cCc>cTc	p.P207L	ABCC1_uc010bvj.3_Missense_Mutation_p.P207L|ABCC1_uc010bvk.3_Missense_Mutation_p.P207L|ABCC1_uc010bvl.3_Missense_Mutation_p.P207L|ABCC1_uc010bvm.3_Missense_Mutation_p.P207L|ABCC1_uc002del.4_Missense_Mutation_p.P91L|ABCC1_uc010bvn.3_Missense_Mutation_p.P70L	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	207					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CACTAGAATCCCTGCCCAGAG	0.547000														67			15		0	0	1	0	0
BTBD17	388419	broad.mit.edu	37	17	72356361	72356361	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72356361C>T	uc002jkn.2	-	1	109	c.109G>A	c.(109-111)Gag>Aag	p.E37K		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	Homo sapiens BTB (POZ) domain containing 17 (BTBD17), mRNA.	37						extracellular region		p.E37D(1)		endometrium(1)|kidney(1)|lung(4)	6						CCAGCTGCCTCCCCGCCAACA	0.652000														15			3		0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11558330	11558330	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11558330C>T	uc010xlz.2	+	10	1262	c.926C>T	c.(925-927)tCg>tTg	p.S309L	PRKCSH_uc002mrt.3_Missense_Mutation_p.S309L|PRKCSH_uc002mru.3_Missense_Mutation_p.S309L|PRKCSH_uc002mrv.1_Missense_Mutation_p.S309L|PRKCSH_uc010dyb.3_Missense_Mutation_p.S309L	NM_002743	NP_002734	P14314	GLU2B_HUMAN	Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.	309					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CCAGTGCCCTCGTCGCCCACA	0.667000														28			12		0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14607558	14607558	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:14607558G>A	uc003jfj.3	+	5	731	c.618G>A	c.(616-618)ttG>ttA	p.L206L		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA.	206										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGGAATTATTGAAAACACAGG	0.393000														62			24		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037935	75037935	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75037935C>T	uc001dgg.3	-	13	3678	c.3459G>A	c.(3457-3459)gtG>gtA	p.V1153V		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1153	Glu-rich.									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						ATATGGGAACCACTGTCTCTT	0.468000														76			24		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165491	172165491	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:172165491T>C	uc003fib.2	-	0	756	c.713A>G	c.(712-714)aAg>aGg	p.K238R	GHSR_uc011bpv.2_Missense_Mutation_p.K238R	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	238					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCGCCACAGCTTCCTGCCGAT	0.607000														42			17		0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56574793	56574793	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56574793G>A	uc001skb.3	-	10	1155	c.1049C>T	c.(1048-1050)cCc>cTc	p.P350L	SMARCC2_uc001skd.3_Missense_Mutation_p.P350L|SMARCC2_uc001ska.3_Missense_Mutation_p.P350L|SMARCC2_uc001skc.3_Missense_Mutation_p.P350L|SMARCC2_uc010sqf.2_Missense_Mutation_p.P239L	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	350					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTCTACATTGGGGACTGGTGA	0.557000														181			31		0	0	1	0	0
FOXA3	3171	broad.mit.edu	37	19	46376127	46376127	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46376127C>T	uc002pdr.3	+	1	1061	c.864C>T	c.(862-864)ctC>ctT	p.L288L		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	288					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GCCTGGAGCTCCCAGGGGAGC	0.607000														37			22		0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143412128	143412128	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:143412128C>T	uc003evn.3	-	4	764	c.555G>A	c.(553-555)gtG>gtA	p.V185V	SLC9A9_uc011bnk.2_Silent_p.V59V	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	185					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.V185A(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCATAGCCTTCACAAAACCAT	0.378000														81			28		0	0	1	0	0
KCNIP3	30818	broad.mit.edu	37	2	96040113	96040113	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:96040113C>T	uc002sup.3	+	2	366	c.251C>T	c.(250-252)gCc>gTc	p.A84V	KCNIP3_uc002suq.3_Missense_Mutation_p.A58V	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Homo sapiens Kv channel interacting protein 3, calsenilin (KCNIP3), transcript variant 1, mRNA.	84	EF-hand 1; degenerate.				apoptosis|signal transduction|transcription, DNA-dependent	Golgi apparatus|endoplasmic reticulum|nucleus|plasma membrane	DNA binding|calcium ion binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	p.Q83Q(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		CAGCTGCAGGCCCAGACCAAG	0.602000														58			16		0	0	1	0	0
RHBDL2	54933	broad.mit.edu	37	1	39381281	39381281	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:39381281C>A	uc010oio.1	-	2	592	c.588G>T	c.(586-588)aaG>aaT	p.K196N	RHBDL2_uc010oin.1_Missense_Mutation_p.K116N|RHBDL2_uc001ccu.1_Missense_Mutation_p.K116N|RHBDL2_uc001ccv.3_Missense_Mutation_p.K116N	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	Homo sapiens rhomboid, veinlet-like 2 (Drosophila) (RHBDL2), mRNA.	116					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CTTCCTCCCTCTTCTCAGGAC	0.453000														83			21		1.22574e-08	1.22951e-08	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152831474	152831474	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:152831474G>A	uc021zhb.1	-	5	658	c.435C>T	c.(433-435)ctC>ctT	p.L145L	SYNE1_uc003qot.4_Silent_p.L152L|SYNE1_uc003qou.4_Silent_p.L145L|SYNE1_uc010kjb.1_Silent_p.L145L|SYNE1_uc003qpa.1_Silent_p.L145L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	145	Actin-binding.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACAAAGACTGGAGCTGGGGCA	0.458000										HNSCC(10;0.0054)				22			22		0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206331107	206331108	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:206331107_206331108GG>AA	uc001hdu.3	+	8	1231_1232	c.1113_1114GG>AA	c.(1111-1116)ggggat>ggAAat	p.D372N	CTSE_uc001hdv.3_Missense_Mutation_p.G324E|CTSE_uc010prs.2_Missense_Mutation_p.G249E	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	377					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GGATCCTGGGGGATGTCTTCAT	0.559000														129			55		0	0	1	0	0
GZMA	3001	broad.mit.edu	37	5	54403622	54403622	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:54403622G>A	uc003jpm.3	+	3	253	c.216_splice	c.e3-1	p.L72_splice		NM_006144	NP_006135	P12544	GRAA_HUMAN	Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.	72	Peptidase S1.			NL -> IP (in Ref. 5; no nucleotide entry).	cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTGTTCTCAGGAACAAAAGGT	0.388000														69			21		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52240817	52240817	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:52240817G>A	uc003jou.3	+	26	3744	c.3330G>A	c.(3328-3330)cgG>cgA	p.R1110R	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Silent_p.R641R	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	1110					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAGAACTTCGGAGTGAAAATG	0.323000														175			20		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94068088	94068088	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:94068088G>A	uc003poe.3	-	3	1115	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	EPHA7_uc003pof.3_Nonsense_Mutation_p.Q292*|EPHA7_uc011eac.2_Nonsense_Mutation_p.Q292*	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	292	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CGAGAGCACTGAAGATCTTGA	0.433000														41			9		0	0	1	0	0
PTGIR	5739	broad.mit.edu	37	19	47127184	47127184	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:47127184G>A	uc002pex.3	-	1	412	c.299C>T	c.(298-300)aCc>aTc	p.T100I		NM_000960	NP_000951	P43119	PI2R_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) receptor (IP) (PTGIR), mRNA.	100					G-protein signaling, coupled to cyclic nucleotide second messenger|cell-cell signaling|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GCCGAAGAAGGTCATGGCGAA	0.701000														11			4		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147494021	147494021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:147494021G>A	uc003lox.2	+	20	2057	c.1984G>A	c.(1984-1986)Ggc>Agc	p.G662S	SPINK5_uc010jgs.1_Missense_Mutation_p.G634S|SPINK5_uc010jgr.2_Missense_Mutation_p.G643S|SPINK5_uc003low.2_Missense_Mutation_p.G662S|SPINK5_uc003loy.2_Missense_Mutation_p.G662S	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	662	Kazal-like 10.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGACCCATGGCAACAAGTG	0.458000														48			31		0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29793396	29793396	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29793396G>A	uc002kxj.4	+	10	1500	c.1453G>A	c.(1453-1455)Gat>Aat	p.D485N		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	485	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGGAGCCAATGATGATCAATT	0.408000														27			17		0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39724502	39724502	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39724502C>T	uc002hxe.4	-	5	1372	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	436	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				AGGCTGTATTCCTGATTCTGG	0.547000														45			21		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2413244	2413244	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:2413244G>A	uc002wfy.1	+	12	2137	c.2076G>A	c.(2074-2076)ccG>ccA	p.P692P	TGM6_uc010gal.1_3'UTR	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	692					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CTCACTTCCCGGACATCAAGG	0.592000														117			38		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33135598	33135598	+	Missense_Mutation	SNP	C	T	T	rs146082418		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33135598C>T	uc003ocx.1	-	54	4220	c.3992G>A	c.(3991-3993)cGa>cAa	p.R1331Q	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.R1245Q|COL11A2_uc003ocz.1_Missense_Mutation_p.R1224Q	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1331	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCTCCTTGTCGCCCCTCGGA	0.657000														30			13		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962775	34962775	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:34962775G>A	uc004ddi.2	+	0	1863	c.1827G>A	c.(1825-1827)aaG>aaA	p.K609K		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	609										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCATTGAAAAGCTGTTTGCCA	0.438000														70			89		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84609371	84609371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:84609371G>A	uc004amn.3	+	3	4033	c.3986G>A	c.(3985-3987)gGg>gAg	p.G1329E		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1329						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AAGACATCAGGGGAGGTGCTT	0.507000														23			4		0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42050647	42050647	+	Silent	SNP	G	A	A	rs141964626		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:42050647G>A	uc003xos.2	-	1	266	c.57C>T	c.(55-57)ttC>ttT	p.F19F	PLAT_uc010lxf.1_Silent_p.F19F|PLAT_uc010lxg.1_Silent_p.F19F|PLAT_uc003xot.2_Silent_p.F19F|PLAT_uc011lcm.1_Silent_p.F19F|PLAT_uc011lcn.1_Silent_p.F19F	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	19					blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGGGCGAAACGAAGACTGCTC	0.567000														57			25		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23886094	23886094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23886094C>T	uc001wjx.3	-	32	4733	c.4627G>A	c.(4627-4629)Gcc>Acc	p.A1543T		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1543					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTCCAGGGCTGACTGCAGC	0.602000														73			28		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69324005	69324005	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:69324005C>T	uc002ars.2	+	3	514	c.473C>T	c.(472-474)gCc>gTc	p.A158V	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.A112V|NOX5_uc002arp.2_Missense_Mutation_p.A140V|NOX5_uc010bid.2_Missense_Mutation_p.A123V|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Missense_Mutation_p.A130V|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	158	N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CGCGAGAGCGCCATCTCGCTG	0.672000														27			7		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2542537	2542537	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:2542537G>A	uc002wgf.1	+	3	450	c.435G>A	c.(433-435)ggG>ggA	p.G145G	TMC2_uc002wgg.1_Silent_p.G129G|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	145	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTCTGGTGGGGAGTCCCTGT	0.617000														64			24		0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29627145	29627145	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29627145G>A	uc003nnf.3	+	1	367	c.138G>A	c.(136-138)ggG>ggA	p.G46G	MOG_uc003qzk.2_Silent_p.G46G|MOG_uc010kle.2_Intron|MOG_uc010klf.2_Intron|MOG_uc003nmy.2_Silent_p.G46G|MOG_uc003nna.3_Intron|MOG_uc011dlt.2_5'UTR|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Silent_p.G46G|MOG_uc003nng.3_Silent_p.G46G|MOG_uc003nni.3_Silent_p.G46G|MOG_uc003nnh.3_Silent_p.G46G|MOG_uc003nnj.3_Silent_p.G46G|MOG_uc003nnk.3_Silent_p.G46G	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	46	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.V45I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CTCTGGTCGGGGATGAAGTGG	0.547000														200			59		0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297788	139297788	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:139297788C>T	uc003etj.3	-	1	259	c.219G>A	c.(217-219)caG>caA	p.Q73Q	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Silent_p.Q36Q|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	73					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						AGTCGGATGTCTGCAGGGCCA	0.572000														53			21		0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72360381	72360381	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72360381G>A	uc009xqg.3	-	1	439	c.278C>T	c.(277-279)aCc>aTc	p.T93I	PRF1_uc001jrf.4_Missense_Mutation_p.T93I	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	93	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCGCCAGTTGGTGAGCGCCAG	0.662000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					23			12		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55174690	55174690	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55174690C>T	uc010ooe.1	+	22	3995	c.3671C>T	c.(3670-3672)tCc>tTc	p.S1224F	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Missense_Mutation_p.S742F|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.S425F	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1224						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						GCTCAAGGGTCCCTGGTCCCC	0.522000														93			29		0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164507068	164507068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:164507068C>T	uc003iqs.2	-	5	438	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	MARCH1_uc003iqr.2_Missense_Mutation_p.E69K	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	86					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)				TCATCCCCTTCGCAGTGACAG	0.527000														27			19		0	0	1	0	0
PHF2P1	266695	broad.mit.edu	37	13	19636803	19636803	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19636803C>T	uc001umb.1	-	5		c.779G>A								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		GCCTCCTCCTCTTCCACTCCC	0.527000														18			10		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600924	29600924	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29600924G>A	uc001usl.4	+	0	2177	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	697	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAACCTCTATGAGAAATTCAA	0.542000														41			24		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39782184	39782184	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:39782184C>T	uc021olt.1	+	26	3638	c.3586C>T	c.(3586-3588)Cat>Tat	p.H1196Y	MACF1_uc021ols.1_Missense_Mutation_p.H1196Y|MACF1_uc001cdc.2_Missense_Mutation_p.H1196Y|MACF1_uc001cda.1_Missense_Mutation_p.H1104Y|MACF1_uc009vvq.1_Missense_Mutation_p.H253Y|MACF1_uc001cdb.1_Missense_Mutation_p.H283Y	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1196					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTGGAGGCCCATTGGTCGAC	0.443000														120			43		0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39773623	39773623	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:39773623C>T	uc003axs.4	+	3	532	c.507C>T	c.(505-507)gcC>gcT	p.A169A	TAB1_uc003axo.4_Silent_p.A168A|TAB1_uc003axq.4_Intron|TAB1_uc003axr.3_Intron	NM_145738	NP_663791	Q15750	TAB1_HUMAN	Homo sapiens synaptogyrin 1 (SYNGR1), transcript variant 1c, mRNA.	0	PP2C-like.				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|activation of MAPKKK 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	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CAGCCCTGGCCGTGCGGAGAT	0.672000														27			7		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41582040	41582040	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:41582040G>A	uc003xok.3	-	6	729	c.645C>T	c.(643-645)caC>caT	p.H215H	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Silent_p.H215H|ANK1_uc003xoj.3_Silent_p.H215H|ANK1_uc003xol.3_Silent_p.H215H|ANK1_uc003xom.3_Silent_p.H248H	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	215	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGTTCTCGTAGTGAGCCGCAA	0.562000														5			3		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149883447	149883447	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:149883447G>A	uc001etg.3	-	2	1199	c.708C>T	c.(706-708)ctC>ctT	p.L236L	SV2A_uc001eth.2_Silent_p.L236L	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	236					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGAGCGAGATGAGCAGACACT	0.587000														51			15		0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52502448	52502448	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:52502448C>T	uc002egw.2	-	1	297	c.126G>A	c.(124-126)gcG>gcA	p.A42A	TOX3_uc010vgt.1_Silent_p.A38A	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	42					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						ACGCATTGTTCGCCTCAGCCA	0.353000														98			26		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166959042	166959042	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:166959042G>A	uc001gdy.1	+	1	272	c.201G>A	c.(199-201)aaG>aaA	p.K67K	MAEL_uc021peh.1_Silent_p.K11K|MAEL_uc001gdz.1_Intron|MAEL_uc009wvf.1_5'Flank	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	67					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CTCAGGGAAAGGACCCTGGGC	0.502000														29			13		0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219553448	219553448	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219553448C>T	uc002viu.3	+	11	1688	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	STK36_uc002viv.3_Missense_Mutation_p.S470F	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	470					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GAGGGTGCTTCCCACATCCTG	0.517000														204			88		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678421	48678422	+	Silent	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48678421_48678422CC>TT	uc002irk.1	+	18	4173_4174	c.3801_3802CC>TT	c.(3799-3804)ctcctg>ctTTtg	p.1267_1268LL>LL	CACNA1G_uc002iri.1_Silent_p.1267_1268LL>LL|CACNA1G_uc002irj.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irl.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irm.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irn.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002iro.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irp.1_Silent_p.1267_1268LL>LL|CACNA1G_uc002irq.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irr.1_Silent_p.1267_1268LL>LL|CACNA1G_uc002irs.1_Silent_p.1267_1268LL>LL|CACNA1G_uc002irt.1_Silent_p.1267_1268LL>LL|CACNA1G_uc002iru.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irv.1_Silent_p.1267_1268LL>LL|CACNA1G_uc002irw.1_Silent_p.1244_1245LL>LL|CACNA1G_uc002irx.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002iry.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isg.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002ish.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isi.1_Silent_p.1157_1158LL>LL|CACNA1G_uc002irz.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isa.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isd.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isb.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isc.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002ise.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isf.1_Silent_p.1180_1181LL>LL|CACNA1G_uc002isj.3_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1267					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTTCCGCCTCCTGTGTCACCG	0.624000														85			55		0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35297980	35297980	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:35297980G>A	uc002hnh.2	+	2	1194	c.471G>A	c.(469-471)gaG>gaA	p.E157E	LHX1_uc010cux.1_Silent_p.E65E	NM_005568	NP_005559	P48742	LHX1_HUMAN	Homo sapiens LIM homeobox 1 (LHX1), mRNA.	157					S-shaped body morphogenesis|cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGGACTCGGAGAGCGCCAACG	0.632000														34			19		0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643428	37643428	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:37643428C>T	uc002ofo.1	-	4	1604	c.1373G>A	c.(1372-1374)cGa>cAa	p.R458Q	ZNF585A_uc002ofm.1_Missense_Mutation_p.R403Q|ZNF585A_uc002ofn.1_Missense_Mutation_p.R403Q	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.R403Q(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGTGAATTCGTTTATGAAC	0.398000														161			52		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046475	73046475	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73046475G>A	uc004ebn.2	+	0		c.34436G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GTAGGGTTTAGGGTTCTCATC	0.423000														54			72		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145435641	145435641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:145435641G>A	uc003lnt.3	+	7	1658	c.1420G>A	c.(1420-1422)Ggt>Agt	p.G474S	SH3RF2_uc011dbl.1_Missense_Mutation_p.G474S|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.3_5'UTR|SH3RF2_uc011dbn.1_5'UTR	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	474							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)			CATTTCAGAAGGTGATCCACG	0.557000														182			66		0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125239244	125239244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125239244C>T	uc011lyu.2	-	0	962	c.962G>A	c.(961-963)gGa>gAa	p.G321E	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	321					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						gcctcagcctcccaaagtgtt	0.468000														33			13		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716952	13716952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:13716952C>T	uc001rbt.2	-	12	3399	c.3220G>A	c.(3220-3222)Gag>Aag	p.E1074K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1074					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCATTGCCCTCGATGTTCCCA	0.567000														22			16		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231577	21231577	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21231577G>A	uc002red.3	-	25	8291	c.8163C>T	c.(8161-8163)ttC>ttT	p.F2721F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2721				Missing (in Ref. 15; AAA51758).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGGGATTATGAATTCTGGAA	0.428000														190			80		0	0	1	0	0
RP11-165H20.1	149620	broad.mit.edu	37	1	111826767	111826767	+	RNA	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111826767T>G	uc009wgb.3	+	5		c.1451T>G								Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA.																		TGGACACTCCTTCCTTCTGAG	0.547000														23			10		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119942978	119942978	+	Silent	SNP	G	A	A	rs141348508	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:119942978G>A	uc001txe.3	+	6	1218	c.753G>A	c.(751-753)caG>caA	p.Q251Q	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	251										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCTCTCCCCAGAGCAGCATGA	0.557000														147			69		0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95147382	95147382	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:95147382C>T	uc003htb.4	+	2	480	c.303C>T	c.(301-303)gtC>gtT	p.V101V	SMARCAD1_uc003htc.4_Silent_p.V101V|SMARCAD1_uc003htd.4_Silent_p.V101V|SMARCAD1_uc010ila.3_5'UTR	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	101					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GTGAAGATGTCGTTTCCCCAA	0.303000														111			55		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207644767	207644767	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207644767G>A	uc001hfw.3	+	9	1613	c.1494_splice	c.e9-1	p.G498_splice	CR2_uc001hfv.3_Splice_Site_p.G498_splice|CR2_uc009xch.3_Splice_Site_p.G498_splice|CR2_uc009xci.1_Intron	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	498	Sushi 8.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCTGTCTCTAGGTACAAGTTA	0.438000														125			55		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74092231	74092231	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:74092231G>A	uc021ulp.1	-	3	2157	c.1839C>T	c.(1837-1839)tcC>tcT	p.S613S	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TCACCTCTTCGGAAAAGCAGC	0.557000														46			20		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601358	75601358	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:75601358C>T	uc001sxg.1	-	1	950	c.406G>A	c.(406-408)Gag>Aag	p.E136K	KCNC2_uc009zry.3_Missense_Mutation_p.E136K|KCNC2_uc001sxe.3_Missense_Mutation_p.E136K|KCNC2_uc001sxf.3_Missense_Mutation_p.E136K|KCNC2_uc010stw.1_Missense_Mutation_p.E136K	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	136					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GCCAGCTCCTCCTCGAAGAGC	0.662000														42			20		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287790	16287790	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:16287790G>A	uc010gqp.2	-	0	148	c.96C>T	c.(94-96)ttC>ttT	p.F32F	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	32										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCACCAGGCGAAGCAGTGGC	0.582000														264			93		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97329689	97329689	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:97329689C>T	uc010how.1	+	12	2608	c.2565C>T	c.(2563-2565)tcC>tcT	p.S855S	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Silent_p.S221S|EPHA6_uc003drs.4_Silent_p.S247S|EPHA6_uc003drr.4_Silent_p.S247S|EPHA6_uc003drt.3_Silent_p.S247S|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	760	Protein kinase.					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						CCCTAGACTCCTTTTTGCGGG	0.333000														61			22		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140772917	140772917	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140772917C>T	uc003lkd.2	+	0	1435	c.537C>T	c.(535-537)tcC>tcT	p.S179S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.S179S|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	179	Cadherin 2.				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)			ACCACTTCTCCCTGGACGTGC	0.607000														71			26		0	0	1	0	0
CXCR5	643	broad.mit.edu	37	11	118764585	118764585	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118764585G>A	uc001pue.4	+	1	508	c.332G>A	c.(331-333)gGc>gAc	p.G111D	CXCR5_uc001puf.3_Missense_Mutation_p.G66D	NM_001716	NP_116743	P32302	CXCR5_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 5 (CXCR5), transcript variant 1, mRNA.	111					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GTGGCCGAGGGCTCTGTGGGC	0.627000														61			29		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74978059	74978059	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:74978059C>T	uc001xqa.3	-	18	3304	c.2917G>A	c.(2917-2919)Gaa>Aaa	p.E973K		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	973	Cys-rich.|EGF-like 7; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGACGGCATTCGTTGATATCT	0.572000														89			33		0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576322	158576322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158576322C>T	uc010pio.2	+	0	94	c.94C>T	c.(94-96)Ctc>Ttc	p.L32F		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGCCTTGTTCCTCTCTCTGTA	0.502000														135			55		0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23782434	23782435	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:23782434_23782435GG>AA	uc001bha.2	-	2	411_412	c.287_288CC>TT	c.(286-288)tcc>tTT	p.S96F	ASAP3_uc010odz.1_5'UTR|ASAP3_uc010oea.1_Missense_Mutation_p.S96F|ASAP3_uc001bhc.1_Missense_Mutation_p.S96F	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	96					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GGAAGCCTGTGGACAGCTCATG	0.569000														90			40		0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54925355	54925355	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:54925355C>T	uc002iur.3	+	4	997	c.817C>T	c.(817-819)Cga>Tga	p.R273*	DGKE_uc002ius.1_Nonsense_Mutation_p.R273*	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	273	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTATTCAGCTCGAGTACTTGT	0.388000														77			22		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22363169	22363169	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22363169C>T	uc021rpj.1	+	1	471	c.300C>T	c.(298-300)gcC>gcT	p.A100A	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron					RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor;																		AACCCTCAGCCCATATGAGCG	0.502000														73			24		0	0	1	0	0
SLC24A6	80024	broad.mit.edu	37	12	113759020	113759020	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113759020G>A	uc001tvc.3	-	2	500	c.290C>T	c.(289-291)cCt>cTt	p.P97L	SLC24A6_uc001tvd.1_Missense_Mutation_p.P97L|SLC24A6_uc001tuz.3_5'Flank|SLC24A6_uc001tva.3_5'Flank|SLC24A6_uc001tvb.3_5'Flank	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	97					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						GACAGCCAGAGGGAGGAGGCT	0.642000														114			18		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72511377	72511377	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72511377C>T	uc001jrg.3	+	16	2580	c.2580C>T	c.(2578-2580)gcC>gcT	p.A860A	ADAMTS14_uc001jrh.3_Silent_p.A857A	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	857	TSP type-1 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGAGCTGGGCCCCCTGCAGCA	0.617000														48			19		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31920407	31920407	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:31920407C>T	uc003tcm.2	-	2	656	c.195G>A	c.(193-195)ttG>ttA	p.L65L	PDE1C_uc003tcn.1_Silent_p.L65L|PDE1C_uc003tco.2_Silent_p.L125L|PDE1C_uc003tcr.3_Silent_p.L65L|PDE1C_uc003tcs.3_Silent_p.L65L	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	65					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTGCATATTCCAAATTCTTCT	0.308000														114			51		0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33785177	33785177	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:33785177C>T	uc002kzq.4	+	5	1179	c.1156C>T	c.(1156-1158)Cag>Tag	p.Q386*		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	386					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CCCTGAGGTTCAGGGCCCAAT	0.498000														84			55		0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55572982	55572982	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55572982G>A	uc021onw.1	-	39	4945	c.4692C>T	c.(4690-4692)atC>atT	p.I1564I	USP24_uc001cyg.4_Silent_p.I1398I	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	1564					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTGCCAGTAAGATGTTGTCCG	0.463000														66			11		0	0	1	0	0
MMP24	10893	broad.mit.edu	37	20	33851599	33851599	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33851599G>A	uc002xbu.2	+	4	826	c.823G>A	c.(823-825)Gac>Aac	p.D275N	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	275					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CACAGGGAACGACCTCTTCCT	0.627000														9			8		0	0	1	0	0
SFTPA1	653509	broad.mit.edu	37	10	81372163	81372163	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81372163G>A	uc009xry.3	+	3	395	c.313G>A	c.(313-315)Gag>Aag	p.E105K	SFTPA1_uc001kap.3_Missense_Mutation_p.E90K|SFTPA1_uc001kar.3_Missense_Mutation_p.E90K|SFTPA1_uc001kaq.3_Missense_Mutation_p.E90K|SFTPA1_uc001kao.3_Missense_Mutation_p.E56K|SFTPA1_uc021puu.1_Missense_Mutation_p.E41K|SFTPA1_uc010qlt.2_Missense_Mutation_p.E31K|SFTPA1_uc009xrz.3_Intron	NM_001093770	NP_005402	Q8IWL2	SFTA1_HUMAN	Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA.	90					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGAGAAGGGGGAGCCTGGCGA	0.632000														182			11		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18788727	18788727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:18788727G>A	uc003sui.3	+	12	2050	c.2009G>A	c.(2008-2010)cGa>cAa	p.R670Q	HDAC9_uc003sue.3_Missense_Mutation_p.R667Q|HDAC9_uc011jyd.2_Missense_Mutation_p.R667Q|HDAC9_uc003suh.3_Missense_Mutation_p.R667Q|HDAC9_uc003suj.3_Missense_Mutation_p.R626Q|HDAC9_uc003sua.1_Missense_Mutation_p.R645Q|HDAC9_uc010kue.1_Missense_Mutation_p.R322Q	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	667	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.R670L(3)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATCTGGTCACGACTGCAAGAA	0.438000														16			7		0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53269757	53269757	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53269757C>T	uc002qab.4	-	2	1538	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	ZNF600_uc021uyz.1_Missense_Mutation_p.E418K	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TTCCCACATTCATTACACTTG	0.358000														121			27		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160049500	160049500	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:160049500C>T	uc003lym.1	-	13	2560	c.1713G>A	c.(1711-1713)aaG>aaA	p.K571K	ATP10B_uc010jit.1_5'Flank|ATP10B_uc003lyn.3_Silent_p.K129K	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	571					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(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGGGAAGCCTTGGCAGGTC	0.522000														58			29		0	0	1	0	0
FERMT2	10979	broad.mit.edu	37	14	53327118	53327118	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:53327118C>T	uc001xac.3	-	13	1875	c.1689G>A	c.(1687-1689)atG>atA	p.M563I	FERMT2_uc001xad.3_Missense_Mutation_p.M556I|FERMT2_uc001xae.3_Missense_Mutation_p.M556I|FERMT2_uc001xaf.3_Missense_Mutation_p.M563I	NM_001134999	NP_001128471	Q96AC1	FERM2_HUMAN	Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA.	556	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					GAATAAATCTCATCTTGGCTT	0.403000														54			9		0	0	1	0	0
ZNF503	84858	broad.mit.edu	37	10	77159218	77159218	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:77159218G>A	uc001jxg.3	-	1	1566	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S	ZNF503-AS2_uc010qlf.2_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	Homo sapiens zinc finger protein 503 (ZNF503), mRNA.	410	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CCAAAGGGCTGGAGCCGGCCG	0.716000														4			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179575439	179575439	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179575439C>T	uc021vsy.1	-	94	24878	c.24653G>A	c.(24652-24654)gGa>gAa	p.G8218E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4879E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9145	Ig-like 64.						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)			TCCAGAATCTCCTTTGTCTAC	0.438000														78			57		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119738993	119738993	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:119738993G>A	uc002tln.1	+	8	907	c.775G>A	c.(775-777)Ggg>Agg	p.G259R	MARCO_uc010yyf.1_Missense_Mutation_p.G181R	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	259	Collagen-like.				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						AGGAAGCAAAGGGGACAGGGG	0.562000														24			10		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77779516	77779516	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:77779516G>A	uc021rks.1	-	25	3985	c.3718C>T	c.(3718-3720)Cat>Tat	p.H1240Y	MYCBP2_uc010aev.3_Missense_Mutation_p.H606Y	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	1202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCTCCTCCATGACCTAGAATA	0.368000														63			31		0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76576248	76576248	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:76576248C>T	uc003pih.1	+	16	1959	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P	MYO6_uc003pig.1_Silent_p.P560P|MYO6_uc003pii.1_Silent_p.P560P	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	560	Myosin head-like.				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTCAGATTCCCAGAAAATCTA	0.323000														76			6		0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15655019	15655019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15655019G>A	uc002nbh.4	+	9	1232	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	355						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CAAAGTATCCGGAATACCAGG	0.537000														75			39		0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213419	9213419	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9213419G>A	uc010xkk.2	-	0	564	c.564C>T	c.(562-564)tcC>tcT	p.S188S		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CTGTGCAGAAGGACAGCCTCA	0.493000														50			27		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736825	140736825	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140736825C>T	uc003ljq.2	+	0	2058	c.2058C>T	c.(2056-2058)gaC>gaT	p.D686D	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljs.2_5'Flank|PCDHGC5_uc003ljp.1_Silent_p.D686D|PCDHGC5_uc011dar.2_5'Flank	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	687					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)			ACCCAGACGACTCGGGCCTCA	0.617000														49			26		0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46023068	46023068	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46023068G>A	uc011bal.1	-	1	268	c.156C>T	c.(154-156)ctC>ctT	p.L52L	FYCO1_uc003cpb.4_Silent_p.L52L	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	52	RUN.				transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTACTTGCAGGAGATACTCAA	0.418000														46			11		0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123524485	123524485	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123524485G>A	uc001pza.1	-	1	432	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	SCN3B_uc001pzb.1_Missense_Mutation_p.P9S	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	9					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GAAGCCAGGGGAAACAATCTA	0.502000														207			51		0	0	1	0	0
KBTBD5	131377	broad.mit.edu	37	3	42729691	42729691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42729691C>T	uc003clv.1	+	1	1310	c.1210C>T	c.(1210-1212)Ctc>Ttc	p.L404F		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	404										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GCCCCGCTGCCTCTTTGGCCT	0.642000														55			21		0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123163094	123163094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:123163094C>T	uc004bkf.3	-	34	5558	c.5377G>A	c.(5377-5379)Gcc>Acc	p.A1793T	CDK5RAP2_uc010mvi.3_Missense_Mutation_p.A802T|CDK5RAP2_uc004bke.3_Missense_Mutation_p.A1078T|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.A1714T|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.A1058T|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.A1058T|CDK5RAP2_uc011lya.2_Missense_Mutation_p.A1058T|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.A1563T	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1793	Interaction with PCNT and AKAP9.				G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CGCCTGTAGGCCTCTTCCAGG	0.587000														57			15		0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162280207	162280207	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:162280207C>T	uc002ubw.1	+	5	1820	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	TBR1_uc010foy.2_Silent_p.F219F	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	506						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCACGGACTTCGCGGGCAACG	0.731000														7			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048259	9048259	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9048259C>T	uc002mkp.3	-	4	33576	c.33372G>A	c.(33370-33372)gaG>gaA	p.E11124E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11126	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						AAGGTGTGGTCTCTGGCTCAC	0.512000														73			30		0	0	1	0	0
FAAH	2166	broad.mit.edu	37	1	46871292	46871292	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:46871292C>T	uc001cpu.2	+	4	693	c.611C>T	c.(610-612)aCc>aTc	p.T204I	FAAH_uc001cpv.2_Non-coding_Transcript	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	204					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TTTGGCCAGACCGTGAACCCA	0.662000														171			46		0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25701903	25701903	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:25701903G>A	uc001bkf.3	-	7	1176	c.1090C>T	c.(1090-1092)Ctc>Ttc	p.L364F	RHCE_uc001bkg.3_Missense_Mutation_p.P319L|RHCE_uc001bkh.3_Intron|RHCE_uc001bki.3_Missense_Mutation_p.L213F|RHCE_uc001bkj.3_Missense_Mutation_p.L348F	NM_020485	NP_065231	P18577	RHCE_HUMAN	Homo sapiens Rh blood group, CcEe antigens (RHCE), transcript variant 1, mRNA.	364						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		ATGCTGAGGAGGACCTGGAAG	0.542000														163			35		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2418758	2418758	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:2418758C>T	uc001aji.1	+	6	1328	c.1054C>T	c.(1054-1056)Cag>Tag	p.Q352*	PLCH2_uc010nyz.2_Nonsense_Mutation_p.Q141*|PLCH2_uc009vle.1_Nonsense_Mutation_p.Q141*|PLCH2_uc001ajj.1_Nonsense_Mutation_p.Q141*|PLCH2_uc001ajk.1_Nonsense_Mutation_p.Q141*	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	353	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			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)		GCTCATGTCCCAGTCACGGGT	0.627000														25			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179417421	179417421	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179417421C>T	uc021vsy.1	-	283	82727	c.82502G>A	c.(82501-82503)aGg>aAg	p.R27501K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R21196K|TTN_uc021vta.1_Missense_Mutation_p.R21129K|TTN_uc021vtb.1_Missense_Mutation_p.R21004K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28428	Fibronectin type-III 100.						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)			TTTACCTTTCCTTTCTACAAC	0.448000														83			24		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642416	156642416	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156642416C>T	uc001fpq.3	-	3	1697	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	522	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	p.E522D(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCCATATTTCCTGCTGCAAG	0.483000														203			26		0	0	1	0	0
C22orf43	51233	broad.mit.edu	37	22	23974157	23974157	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:23974157C>T	uc002zxf.3	-	0	352	c.54G>A	c.(52-54)ggG>ggA	p.G18G		NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN	Homo sapiens chromosome 22 open reading frame 43 (C22orf43), mRNA.	18										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						GTGCGTCCTTCCCCCTGGGCC	0.527000														81			18		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48936161	48936161	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:48936161C>T	uc002rwu.4	-	8	676	c.606_splice	c.e8-1	p.L202_splice	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Splice_Site	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	202					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CCTTTAGCTCCCTGTGGGGAA	0.488000														86			28		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841810	13841810	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13841810G>A	uc003jfd.2	-	32	5517	c.5475C>T	c.(5473-5475)ttC>ttT	p.F1825F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1825	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1824F(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGAGCAGGGAAGGATGAAA	0.358000									Kartagener syndrome					57			29		0	0	1	0	0
BVES	11149	broad.mit.edu	37	6	105549067	105549067	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:105549067C>T	uc003pqw.3	-	7	1137	c.980G>A	c.(979-981)cGa>cAa	p.R327Q	BVES_uc003pqx.3_Missense_Mutation_p.R327Q|BVES_uc003pqy.3_Missense_Mutation_p.R327Q	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	327					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of Rac GTPase activity|regulation of cell shape|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GGCAGAGGCTCGCTGGTGTGG	0.448000														28			16		0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143057231	143057231	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143057231T>A	uc010lpa.3	-	1	184	c.40A>T	c.(40-42)Att>Ttt	p.I14F	FAM131B_uc010loz.3_5'Flank|FAM131B_uc003wct.3_5'UTR|FAM131B_uc003wcu.4_5'UTR|ZYX_uc011ktd.2_5'Flank	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	0										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TCCACTGCAATCACCTCATTC	0.617000														20			7		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596488	11596488	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11596488C>T	uc001ash.4	+	20	4062	c.3924C>T	c.(3922-3924)ttC>ttT	p.F1308F		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1308					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)		TGCCCCTCTTCTTCTGCATCA	0.642000														65			23		0	0	1	0	0
MYL7	58498	broad.mit.edu	37	7	44178607	44178607	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44178607G>A	uc003tkg.3	-	6	453	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_021223	NP_067046	Q01449	MLRA_HUMAN	Homo sapiens myosin, light chain 7, regulatory (MYL7), mRNA.	147	EF-hand 3.				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						GTGTCAGGGCGAACATCTGCT	0.612000														42			17		0	0	1	0	0
DAK	26007	broad.mit.edu	37	11	61106811	61106811	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:61106811C>T	uc001nre.3	+	4	647	c.390C>T	c.(388-390)atC>atT	p.I130I	DDB1_uc010rlf.1_Intron|DAK_uc009ynm.1_Silent_p.I60I	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	Homo sapiens dihydroxyacetone kinase 2 homolog (S. cerevisiae) (DAK), mRNA.	130	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGAAGGCATCCCGGTGGAGA	0.652000														113			14		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26108068	26108068	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:26108068G>A	uc002gzu.3	-	7	1122	c.858C>T	c.(856-858)ttC>ttT	p.F286F	NOS2_uc010crh.1_Silent_p.F286F|NOS2_uc010wab.1_Silent_p.F286F	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	286					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GTACCTGAGTGAATTCCACGT	0.647000														38			18		0	0	1	0	0
XKR8	55113	broad.mit.edu	37	1	28290032	28290032	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:28290032G>A	uc001bph.1	+	1	395	c.318G>A	c.(316-318)ggG>ggA	p.G106G		NM_018053	NP_060523	Q9H6D3	XKR8_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 8 (XKR8), mRNA.	106						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		TGCGGCAGGGGCTGCTGGTGT	0.602000														40			17		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55910724	55910724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55910724G>A	uc003tqz.2	-	4	586	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	157					cell cycle|cell division	septin complex	GTP binding|protein binding	p.R157L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACGTGGACGCGAGAATCATGG	0.398000														13			9		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74276776	74276776	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74276776C>T	uc002jrd.1	-	9	4102	c.3922G>A	c.(3922-3924)Gaa>Aaa	p.E1308K	QRICH2_uc010dgw.1_Missense_Mutation_p.E152K	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1308							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TTGGCCTTTTCCTTTTCGAGC	0.592000														93			28		0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219256209	219256209	+	Silent	SNP	C	T	T	rs141050730		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219256209C>T	uc002vhv.3	+	10	1495	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	SLC11A1_uc010fvp.1_Silent_p.F385F|SLC11A1_uc010fvq.1_Silent_p.F318F|SLC11A1_uc010zkc.1_Silent_p.F318F|SLC11A1_uc002vhu.1_Silent_p.F180F|SLC11A1_uc002vhw.3_Silent_p.F267F|SLC11A1_uc010fvr.3_Silent_p.F180F	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	385					L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGGACAGTTCGTGATGGAGG	0.672000														6			4		0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12760765	12760765	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12760765G>A	uc002mub.2	-	17	2305	c.2229C>T	c.(2227-2229)ttC>ttT	p.F743F	MAN2B1_uc010dyv.1_Silent_p.F742F	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	743					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGTCTGTGTAGAAGCGTCCCT	0.607000														156			65		0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10876198	10876198	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:10876198C>T	uc003mzn.4	-	3	580	c.508G>A	c.(508-510)Gct>Act	p.A170T	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	170					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CTTCTTCTAGCTTCTGTCTCT	0.453000														83			32		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950722	198950722	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:198950722C>T	uc010fsp.3	+	1	2879	c.2481C>T	c.(2479-2481)ccC>ccT	p.P827P	PLCL1_uc002uuv.4_Silent_p.P748P	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	827					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGCATGTTCCCCTGCGTTCTT	0.453000														74			29		0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8007490	8007490	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:8007490G>A	uc002gka.3	-	12	2227	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F	ALOXE3_uc010cnr.3_Silent_p.F576F|ALOXE3_uc010vuo.2_Silent_p.F708F	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	576					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TTGCAGTGAGGAACTTCACCA	0.582000														17			11		0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104302572	104302572	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104302572C>T	uc004bbn.3	+	2	307	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	Homo sapiens ring finger protein 20 (RNF20), mRNA.	73					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGATGAACTTCGTGAGCACAT	0.453000														121			36		0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51687149	51687149	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51687149G>A	uc002aba.3	+	4	828	c.659G>A	c.(658-660)gGa>gAa	p.G220E	GLDN_uc002abb.3_Missense_Mutation_p.G96E	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	220	Collagen-like 2.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		p.G220R(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGTGACAAAGGAGATGTGTCC	0.582000														25			10		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24886121	24886121	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24886121C>T	uc001wpf.4	+	8	5484	c.5166C>T	c.(5164-5166)ttC>ttT	p.F1722F		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1722	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACTGGGAATTCAAGAGGGCCC	0.637000														16			6		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11468641	11468641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:11468641G>A	uc021zzo.1	-	13	3428	c.3176C>T	c.(3175-3177)tCt>tTt	p.S1059F	THSD7A_uc021zzn.1_Missense_Mutation_p.S1059F	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1059	TSP type-1 11.					integral to membrane		p.S1059F(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CAGCCATTTAGAACGAACCTT	0.507000										HNSCC(18;0.044)				284			97		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10420946	10420946	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10420946C>T	uc003bvt.3	-	8	1462	c.1023G>A	c.(1021-1023)gtG>gtA	p.V341V	ATP2B2_uc003bvv.3_Intron|ATP2B2_uc003bvw.3_Intron|ATP2B2_uc010hdo.3_Silent_p.V46V	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	341					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGCTGGCGTCCACATTGCCAT	0.517000														31			13		0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98072952	98072952	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:98072952C>T	uc011bgv.2	+	0	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TAGAGAATTTCTTTTCTGAGG	0.433000														356			165		0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118969872	118969873	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:118969872_118969873GG>AA	uc003ksm.2	+	2	639_640	c.429_430GG>AA	c.(427-432)tgggag>tgAAag	p.143_144WE>*K	FAM170A_uc003ksl.2_Nonsense_Mutation_p.143_144WE>*K|FAM170A_uc003ksn.3_Nonsense_Mutation_p.143_144WE>*K|FAM170A_uc003kso.3_Nonsense_Mutation_p.96_97WE>*K	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	143						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CTGTCTCCTGGGAGACAGAGGA	0.465000														67			36		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42853767	42853768	+	Nonsense_Mutation	DNP	CC	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42853767_42853768CC>AT	uc002otl.4	+	12	2849_2850	c.2214_2215CC>AT	c.(2212-2217)atccag>atATag	p.Q739*	MEGF8_uc002otm.4_Nonsense_Mutation_p.Q347*	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	806						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)				CAGTAGAGATCCAGGGCCAGCT	0.653000														53			5		0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021113	5021113	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:5021113C>T	uc001qnh.3	+	1	1674	c.569C>T	c.(568-570)cCc>cTc	p.P190L	KCNA1_uc021qts.1_Missense_Mutation_p.P190L	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	190					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAGACGCTCCCCGAGCTGAAG	0.572000														63			23		0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704713	41704713	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41704713G>A	uc002opw.3	+	4	809	c.754G>A	c.(754-756)Gtg>Atg	p.V252M	CYP2S1_uc010xvx.2_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	252					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						AGTCCGGCAGGTGCAGCAGCA	0.642000														64			29		0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51330299	51330299	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51330299C>T	uc002ptl.3	-	2	347	c.316G>A	c.(316-318)Gac>Aac	p.D106N	KLK15_uc002ptm.3_Missense_Mutation_p.D106N|KLK15_uc002ptn.3_Missense_Mutation_p.D106N|KLK15_uc002pto.3_Missense_Mutation_p.D105N|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.D105N|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	106	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.D106N(2)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		AACATGATGTCGTTGCGGTGG	0.687000														61			20		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73659854	73659854	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:73659854C>T	uc002avp.3	-	0	1752	c.758G>A	c.(757-759)tGg>tAg	p.W253*		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	253	Involved in subunit assembly (By similarity).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTGGATAATCCAAAATCCGGC	0.607000														87			21		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125175031	125175031	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:125175031A>G	uc010flu.3	+	3	757	c.393A>G	c.(391-393)ggA>ggG	p.G131G	CNTNAP5_uc002tno.3_Silent_p.G131G	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	131	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G131E(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTTTGCAGGAAACATGAATG	0.488000														26			8		0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179525581	179525581	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:179525581C>T	uc003fki.1	-	13	1687	c.1557G>A	c.(1555-1557)gcG>gcA	p.A519A	PEX5L_uc011bqd.1_Silent_p.A476A|PEX5L_uc011bqe.1_Silent_p.A327A|PEX5L_uc011bqf.1_Silent_p.A411A|PEX5L_uc003fkj.1_Silent_p.A484A|PEX5L_uc010hxd.1_Silent_p.A517A|PEX5L_uc011bqg.1_Silent_p.A495A|PEX5L_uc011bqh.1_Silent_p.A460A	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	519					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GGTCTCCGTTCGCCAAGGTCG	0.527000														202			14		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77400934	77400934	+	Silent	SNP	G	A	A	rs149732972		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77400934G>A	uc004ajl.1	-	20	3013	c.2775C>T	c.(2773-2775)ttC>ttT	p.F925F	TRPM6_uc004ajk.1_Silent_p.F920F|TRPM6_uc022bib.1_Silent_p.F920F|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	925					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATCGAAGGACGAAGCCAGCTG	0.478000														128			32		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	62460	62460	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000209.1:62460C>T	uc002quc.4	+	4	870	c.680C>T	c.(679-681)tCa>tTa	p.S227L	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_Missense_Mutation_p.S222L|KIR2DL2_uc010yic.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evd.3_Missense_Mutation_p.S266L|KIR2DL2_uc002qud.4_Intron|KIR2DL2_uc002quh.4_Missense_Mutation_p.S171L|KIR2DL2_uc002que.4_Intron|KIR2DL2_uc002quf.4_Intron|KIR2DL2_uc010eve.3_Intron|KIR2DL2_uc002qug.4_Missense_Mutation_p.S227L|KIR2DL2_uc010evf.3_Intron	NM_002255	NP_002246	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	230					regulation of immune response	integral to membrane|plasma membrane	receptor activity										AGTTGGCCTTCACCCACTGAA	0.483000														378			30		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401432	77401432	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:77401432G>A	uc002ffc.4	-	3	1103	c.684C>T	c.(682-684)tcC>tcT	p.S228S	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.	228					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						TGTGACTTGGGGAGTAACCAG	0.517000														52			22		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335973	57335973	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57335973G>A	uc002qnu.2	-	0	402	c.51C>T	c.(49-51)gcC>gcT	p.A17A	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.A17A|PEG3_uc002qnv.2_Silent_p.A17A|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Silent_p.A17A	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	17					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACAGATTTGGGGCCCAGGACT	0.453000														73			32		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71130426	71130426	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:71130426C>T	uc003tvy.3	+	6	1111	c.1111C>T	c.(1111-1113)Ctt>Ttt	p.L371F	WBSCR17_uc003tvz.3_Missense_Mutation_p.L70F	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	371	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CATGGAGGTCCTTCCTTGCTC	0.522000														123			38		0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1387776	1387776	+	Missense_Mutation	SNP	C	T	T	rs144852834	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1387776C>T	uc001aft.2	+	2	1179	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	62							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGAAGGATTCCGTGCCTTTGT	0.577000														85			33		0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4337325	4337325	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:4337325C>T	uc002fxt.3	+	0	107	c.63C>T	c.(61-63)tcC>tcT	p.S21S	SPNS3_uc002fxu.3_5'UTR	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	21					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						AGGGCCAGTCCCCAGGGCCAG	0.701000														21			11		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634394	156634394	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:156634394G>A	uc003iov.3	+	7	1767	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	GUCY1A3_uc010iqc.2_Missense_Mutation_p.D411N|GUCY1A3_uc010iqd.3_Missense_Mutation_p.D410N|GUCY1A3_uc003iow.3_Missense_Mutation_p.D411N|GUCY1A3_uc003iox.3_Missense_Mutation_p.D411N|GUCY1A3_uc010iqe.3_Missense_Mutation_p.D176N|GUCY1A3_uc003ioy.3_Missense_Mutation_p.D411N|GUCY1A3_uc003ioz.3_Missense_Mutation_p.D176N|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.D411N	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	411					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.R410>?(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TGCACTGAGGGATGTGGTCTT	0.517000														56			23		0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461349	11461349	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:11461349C>T	uc001qzf.1	-	2	602	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	PRB4_uc001qzt.3_Missense_Mutation_p.E190K	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	253	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTGTTGCCTTCTTGTTGGGGT	0.602000										HNSCC(22;0.051)				252			83		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55174728	55174728	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55174728C>T	uc010ooe.1	+	22	4033	c.3709C>T	c.(3709-3711)Cgt>Tgt	p.R1237C	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Missense_Mutation_p.R755C|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.R438C	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1237						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						GACAGAAGATCGTCTGAATGA	0.517000														78			25		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15726582	15726582	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15726582C>T	uc002nbi.3	+	1	219	c.155C>T	c.(154-156)cCg>cTg	p.P52L	CYP4F8_uc010xoi.1_Missense_Mutation_p.P52L|CYP4F8_uc010xoj.2_Missense_Mutation_p.R14C	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	52					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CGGTGTTTCCCGCAGCCCCGG	0.642000														118			8		0	0	1	0	0
DEFB115	245929	broad.mit.edu	37	20	29847325	29847325	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:29847325G>A	uc002wvp.1	+	1	157	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	Homo sapiens defensin, beta 115 (DEFB115), mRNA.	53					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			CAAAGAAATTGAGAGGAAGAA	0.353000														39			17		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121293253	121293253	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:121293253C>T	uc003yox.3	+	30	4044	c.3779C>T	c.(3778-3780)cCa>cTa	p.P1260L	COL14A1_uc003yoz.3_Missense_Mutation_p.P225L	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1260	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATGTGTTTCCATGTTACCAA	0.368000														111			23		0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151474779	151474779	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151474779G>A	uc003ezc.3	+	5	724	c.604_splice	c.e5-1	p.V202_splice	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Splice_Site	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	202						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TATATTTTCAGGTGCAGAATG	0.303000														52			26		0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32798475	32798475	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32798475G>A	uc011dqf.1	-	7	1503	c.1381C>T	c.(1381-1383)Ccc>Tcc	p.P461S	TAP2_uc003ocb.1_Missense_Mutation_p.P461S|TAP2_uc003occ.3_Missense_Mutation_p.P461S|TAP2_uc003ocd.3_Missense_Mutation_p.P461S	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	461					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										AGAGTGGTGGGGGCAAGCGTG	0.537000														27			18		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21145600	21145600	+	Silent	SNP	C	T	T	rs141077519		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21145600C>T	uc010vbe.2	-	6	1062	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	DNAH3_uc002die.2_Silent_p.L325L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	354	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAGTTCTTTCAGCCTGAGCA	0.527000														102			29		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160755484	160755484	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:160755484C>T	uc002ubb.4	-	1	255	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	LY75-CD302_uc010fos.3_Missense_Mutation_p.E61K|LY75-CD302_uc002ubc.4_Missense_Mutation_p.E61K|LY75-CD302_uc010fot.2_Missense_Mutation_p.E61K	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	61	Ricin B-type lectin.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TCCTCAGTTTCATCACAGTCG	0.478000														117			17		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216405294	216405294	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:216405294C>T	uc001hku.1	-	14	3380	c.2993_splice	c.e14+1	p.R998_splice	USH2A_uc001hkv.3_Splice_Site_p.R998_splice	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	998	Laminin EGF-like 9.				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)		TAAAGATGTACCTTCCAGTCT	0.363000										HNSCC(13;0.011)				179			34		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16355714	16355714	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16355714G>A	uc001axu.3	+	11	1227	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.D340N|CLCNKA_uc001axv.3_Missense_Mutation_p.D383N|CLCNKA_uc010obx.1_Missense_Mutation_p.D30N|CLCNKA_uc010oby.1_Missense_Mutation_p.R112Q|CLCNKA_uc021ogl.1_Missense_Mutation_p.D30N	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	383					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)	CGAGGAGCTCGACCCCCAGCA	0.622000														68			28		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4873157	4873157	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4873157G>A	uc001qne.1	+	8	1629	c.1537G>A	c.(1537-1539)Gga>Aga	p.G513R		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	513	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CTTGGATCAGGGACCCGTTCC	0.502000														85			42		0	0	1	0	0
PRMT1	3276	broad.mit.edu	37	19	50188094	50188094	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50188094C>T	uc010enf.2	+	6	768	c.639C>T	c.(637-639)atC>atT	p.I213I	PRMT1_uc021uxu.1_Silent_p.I189I|PRMT1_uc002ppe.3_Silent_p.I195I|PRMT1_uc021uxv.1_Intron|PRMT1_uc010yba.2_Non-coding_Transcript	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	Homo sapiens protein arginine methyltransferase 1 (PRMT1), transcript variant 1, mRNA.	194						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		ACTACAAGATCCACTGTGAGC	0.692000											OREG0025627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			10		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57745930	57745930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:57745930G>A	uc010bfw.3	+	7	2297	c.2104G>A	c.(2104-2106)Gat>Aat	p.D702N	CGNL1_uc002aeg.3_Missense_Mutation_p.D702N	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	702						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGAGATCAGGGATCTCCAGGA	0.537000														27			5		0	0	1	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43591196	43591196	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:43591196G>A	uc002lbp.4	-	4	401	c.305C>T	c.(304-306)gCc>gTc	p.A102V	PSTPIP2_uc002lbq.4_Missense_Mutation_p.A102V	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	102						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CATCTTCCTGGCCTCTTCTCT	0.373000														218			75		0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	32891781	32891781	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:32891781C>T	uc002rom.3	+	6	1158	c.885C>T	c.(883-885)gtC>gtT	p.V295V	TTC27_uc010ymx.2_Silent_p.V245V	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	295							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AAGGGGATGTCCTTTCAAATT	0.373000														86			38		0	0	1	0	0
GLIPR1	11010	broad.mit.edu	37	12	75874745	75874745	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:75874745G>A	uc001sxs.3	+	0	233	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	GLIPR1_uc009zsb.1_Missense_Mutation_p.E29K	NM_006851	NP_006842	P48060	GLIP1_HUMAN	Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA.	29					cellular lipid metabolic process	extracellular region|integral to membrane		p.E29K(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						GCCAGATATCGAAAATGAAGA	0.403000														76			14		0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44449852	44449852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:44449852C>T	uc003gwu.3	-	0	973	c.689G>A	c.(688-690)cGg>cAg	p.R230Q		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	230						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CGCCACACGCCGGAATTTGGC	0.721000										HNSCC(17;0.042)				10			5		0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7373425	7373425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7373425C>T	uc003mxl.2	-	4	2158	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.E407K|CAGE1_uc003mxj.3_Missense_Mutation_p.E298K|CAGE1_uc003mxk.2_Missense_Mutation_p.E543K	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	543								p.K542N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TTTGCATTCTCATTTTTTACT	0.333000														45			4		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103488537	103488537	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:103488537C>T	uc001dum.3	-	7	1360	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.E336K|COL11A1_uc001dun.3_Missense_Mutation_p.E297K|COL11A1_uc009weh.3_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	336	Nonhelical 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)		GTAAATATTTCTTCAACTGGA	0.318000														36			12		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236902620	236902620	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:236902620C>T	uc001hyf.2	+	9	1099	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	ACTN2_uc001hyg.2_Missense_Mutation_p.R91C|ACTN2_uc009xgi.1_Missense_Mutation_p.R299C|ACTN2_uc010pxu.1_Intron	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	299					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATGGATTCGTCGCACGATCCC	0.527000														145			50		0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43351929	43351929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43351929G>A	uc001zqq.3	-	7	1022	c.956C>T	c.(955-957)tCc>tTc	p.S319F	UBR1_uc010udk.1_Missense_Mutation_p.S319F	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	319					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GTTCATCCAGGAACCAAGACG	0.333000														100			14		0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69965947	69965947	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:69965947C>T	uc001suy.3	+	8	972	c.462C>T	c.(460-462)ccC>ccT	p.P154P	FRS2_uc001suz.3_Silent_p.P154P|FRS2_uc009zrj.3_Silent_p.P154P|FRS2_uc009zrk.3_Silent_p.P154P	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 2 (FRS2), transcript variant 1, mRNA.	154					G-protein coupled receptor protein signaling pathway|activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CCCGATATCCCTCATTTGGAG	0.483000														79			25		0	0	1	0	0
TROVE2	6738	broad.mit.edu	37	1	193046046	193046046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:193046046C>T	uc001gss.3	+	4	1328	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	TROVE2_uc001gsu.2_Missense_Mutation_p.R43C|TROVE2_uc001gsv.2_Missense_Mutation_p.R318C|TROVE2_uc009wyp.3_Missense_Mutation_p.R318C|TROVE2_uc001gsw.3_Missense_Mutation_p.R318C|TROVE2_uc009wyq.3_Missense_Mutation_p.R318C|TROVE2_uc001gsx.2_Missense_Mutation_p.R318C	NM_001173524	NP_004591	P10155	RO60_HUMAN	Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA.	318	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	RNA binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TTTCTAGGCTCGTATACATCC	0.328000														41			4		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77455005	77455005	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77455005C>T	uc004ajl.1	-	4	717	c.479G>A	c.(478-480)aGc>aAc	p.S160N	TRPM6_uc004ajk.1_Missense_Mutation_p.S155N|TRPM6_uc022bib.1_Missense_Mutation_p.S155N|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.S160N|TRPM6_uc010mpd.1_Missense_Mutation_p.S160N|TRPM6_uc010mpe.1_Missense_Mutation_p.S160N|TRPM6_uc004ajn.1_Missense_Mutation_p.S160N	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	160					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAAACCTTGGCTGAAAATCTC	0.453000														102			19		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762058	92762058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92762058C>T	uc003umh.1	-	4	4443	c.3227G>A	c.(3226-3228)aGa>aAa	p.R1076K	SAMD9L_uc003umj.1_Missense_Mutation_p.R1076K|SAMD9L_uc003umi.1_Missense_Mutation_p.R1076K|SAMD9L_uc010lfb.1_Missense_Mutation_p.R1076K|SAMD9L_uc003umk.1_Missense_Mutation_p.R1076K|SAMD9L_uc010lfc.1_Missense_Mutation_p.R1076K|SAMD9L_uc010lfd.1_Missense_Mutation_p.R1076K|SAMD9L_uc022ahh.1_Missense_Mutation_p.R1076K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1076										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGGGAATCGTCTACTTCCTGC	0.428000														132			56		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20556494	20556494	+	Silent	SNP	G	A	A	rs141823499		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20556494G>A	uc002dhj.4	-	10	1476	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	ACSM2B_uc002dhk.4_Silent_p.I422I|ACSM2B_uc010bwf.1_Silent_p.I422I	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	422					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.G421G(1)|p.G421D(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGCCAGAGAAGATGCCTATAG	0.517000														80			22		0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205592886	205592886	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205592886G>A	uc001hcy.2	-	1	1375	c.125C>T	c.(124-126)gCt>gTt	p.A42V	SLC45A3_uc021pid.1_Non-coding_Transcript|SLC45A3_uc001hcz.3_Missense_Mutation_p.A42V|SLC45A3_uc010prn.1_Missense_Mutation_p.A131V|SLC45A3_uc010pro.1_Missense_Mutation_p.A315V|SLC45A3_uc010prp.1_Non-coding_Transcript|SLC45A3_uc010prq.1_Non-coding_Transcript	NM_001973	NP_001964	Q96JT2	S45A3_HUMAN	Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA.	0					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCAGAGACGAGCCACCTCTTC	0.468000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									161			71		0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128186115	128186115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:128186115G>A	uc002tol.3	+	8	1069	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	PROC_uc002tok.3_Missense_Mutation_p.E327K|PROC_uc010yzi.2_Missense_Mutation_p.E383K|PROC_uc010yzj.2_Missense_Mutation_p.E222K|PROC_uc010yzk.2_Missense_Mutation_p.E382K	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	327	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CGGCCTTGCAGAGCGCGAGCT	0.657000														136			45		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2778188	2778188	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2778188G>A	uc009zdu.1	+	39	5170	c.4857G>A	c.(4855-4857)agG>agA	p.R1619R	CACNA1C_uc001qkc.2_Silent_p.R1571R|CACNA1C_uc001qjz.2_Silent_p.R1571R|CACNA1C_uc001qkd.2_Silent_p.R1571R|CACNA1C_uc001qke.2_Silent_p.R1560R|CACNA1C_uc001qkf.2_Silent_p.R1560R|CACNA1C_uc009zdw.1_Silent_p.R1593R|CACNA1C_uc001qkg.2_Silent_p.R1558R|CACNA1C_uc001qkh.2_Silent_p.R1560R|CACNA1C_uc001qkl.2_Silent_p.R1619R|CACNA1C_uc001qkj.2_Silent_p.R1571R|CACNA1C_uc001qkk.2_Silent_p.R1571R|CACNA1C_uc001qkn.2_Silent_p.R1571R|CACNA1C_uc001qkm.2_Silent_p.R1560R|CACNA1C_uc001qko.2_Silent_p.R1591R|CACNA1C_uc001qkp.2_Silent_p.R1571R|CACNA1C_uc001qkq.2_Silent_p.R1599R|CACNA1C_uc001qku.2_Silent_p.R1571R|CACNA1C_uc001qkr.2_Silent_p.R1588R|CACNA1C_uc001qks.2_Silent_p.R1571R|CACNA1C_uc001qkt.2_Silent_p.R1571R|CACNA1C_uc009zdv.1_Silent_p.R1568R|CACNA1C_uc001qkb.2_Silent_p.R1571R|CACNA1C_uc001qki.1_Silent_p.R1307R|CACNA1C_uc010sea.1_Silent_p.R262R	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1619					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGGCCCTGAGGATCAAAACAG	0.572000														80			40		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5040786	5040786	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:5040786G>A	uc002cye.2	+	4	544	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	122	PRELI/MSF1.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGAGAATGAAGACTGGACTTG	0.572000														37			10		0	0	1	0	0
FAM71D	161142	broad.mit.edu	37	14	67664956	67664956	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:67664956G>A	uc001xja.2	+	2	368	c.78G>A	c.(76-78)ccG>ccA	p.P26P	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.	26										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)		CCCATGATCCGAGAGATCTTC	0.428000														116			55		0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3520891	3520891	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3520891C>T	uc002wim.2	+	2	607	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C	ATRN_uc002wil.2_Missense_Mutation_p.R173C|ATRN_uc021vzz.1_Missense_Mutation_p.R57C	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	173	CUB.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.R173C(2)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AATGAGACTTCGTTTCAATCA	0.308000														234			52		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185969700	185969700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:185969700C>T	uc003fqa.3	-	18	2146	c.1609G>A	c.(1609-1611)Ggg>Agg	p.G537R	DGKG_uc003fqb.3_Missense_Mutation_p.G498R|DGKG_uc003fqc.3_Missense_Mutation_p.G512R|DGKG_uc011brx.2_Missense_Mutation_p.G478R	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	537	DAGKc.				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	p.G537W(2)		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)	AAGCTGCCCCCTTCATAACCT	0.527000														93			11		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33552743	33552743	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:33552743G>A	uc001iwx.4	-	3	1012	c.489C>T	c.(487-489)ttC>ttT	p.F163F	NRP1_uc001iwv.4_Silent_p.F163F|NRP1_uc001iwy.4_Silent_p.F163F|NRP1_uc009xlz.3_Silent_p.F163F|NRP1_uc001iww.4_5'UTR|NRP1_uc001iwz.2_Silent_p.F163F|NRP1_uc001ixa.2_Silent_p.F163F|NRP1_uc001ixb.2_Silent_p.F163F|NRP1_uc001ixc.1_Silent_p.F163F	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	163	CUB 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	ATTTTTCAGGGAATCCGGGGG	0.423000														226			67		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871400	51871400	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:51871400G>A	uc002xwo.3	+	1	2290	c.1403G>A	c.(1402-1404)aGg>aAg	p.R468K	TSHZ2_uc021wex.1_Missense_Mutation_p.R465K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	468					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAAAAGAAAGGCCAGAGGAA	0.423000														130			32		0	0	1	0	0
TEX29	121793	broad.mit.edu	37	13	111992259	111992259	+	Silent	SNP	C	T	T	rs34403563	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:111992259C>T	uc001vsa.3	+	3	348	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	Homo sapiens chromosome 13 open reading frame 16 (C13orf16), mRNA.	73						integral to membrane											CTGGGGCCTTCGTCATCACCA	0.522000														124			47		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21402245	21402245	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:21402245G>A	uc002kuq.3	+	19	2420	c.2334G>A	c.(2332-2334)ggG>ggA	p.G778G	LAMA3_uc002kur.3_Silent_p.G778G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	778					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAATGTAGGGAAGTCAAGTG	0.383000														74			32		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984557	85984557	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:85984557G>A	uc010qmc.2	-	1	432	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F	LRIT2_uc001kcy.3_Missense_Mutation_p.L142F	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	142						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGCTCAGGGAGTGCATCAATC	0.527000														123			22		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164776773	164776773	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:164776773C>T	uc003fei.3	-	11	1439	c.1376G>A	c.(1375-1377)gGa>gAa	p.G459E		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	459	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGGTGTACTTCCATCTGACTC	0.373000										HNSCC(35;0.089)				45			9		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46067533	46067533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:46067533C>T	uc003gxb.3	-	3	542	c.390G>A	c.(388-390)atG>atA	p.M130I		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	130					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TAAGCACTTTCATGGTACTAT	0.313000														44			16		0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887590	97887590	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:97887590G>A	uc011bgu.2	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GTTCTCACAGGATTTTTATAT	0.393000														191			64		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394087	233394087	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233394087C>T	uc001hvl.2	-	4	1756	c.1521G>A	c.(1519-1521)ggG>ggA	p.G507G	PCNXL2_uc009xfu.3_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.	507						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)				GGCCTTCCTTCCCCACCTTAG	0.547000														49			18		0	0	1	0	0
FOLR1	2348	broad.mit.edu	37	11	71907125	71907125	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:71907125G>A	uc001orz.2	+	5	954	c.678G>A	c.(676-678)gcG>gcA	p.A226A	FOLR1_uc001osa.2_Silent_p.A226A|FOLR1_uc001osb.2_Silent_p.A226A|FOLR1_uc001osd.2_Silent_p.A226A	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	226					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						AGGAGGTGGCGAGGTTCTATG	0.627000														52			26		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084728	53084728	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:53084728C>T	uc003xqz.2	-	4	849	c.693G>A	c.(691-693)ttG>ttA	p.L231L	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.L196L|ST18_uc011lds.1_Silent_p.L136L|ST18_uc003xra.2_Silent_p.L231L|ST18_uc003xrb.2_Silent_p.L231L	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	231						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CAGGAACTTCCAATAGGTCTT	0.418000														69			18		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153056708	153056708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:153056708G>A	uc011dcy.2	+	6	1073	c.1046G>A	c.(1045-1047)aGa>aAa	p.R349K	GRIA1_uc003lva.4_Missense_Mutation_p.R339K|GRIA1_uc003luy.4_Missense_Mutation_p.R339K|GRIA1_uc003luz.4_Missense_Mutation_p.R244K|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R259K|GRIA1_uc011dcx.2_Missense_Mutation_p.R270K|GRIA1_uc011dcz.2_Missense_Mutation_p.R349K|GRIA1_uc010jia.1_Missense_Mutation_p.R319K	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	339					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GACATCCAGAGAGCTCTGCAG	0.517000														36			10		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64222206	64222206	+	Missense_Mutation	SNP	C	T	T	rs138448367	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:64222206C>T	uc002jfn.4	-	2	337	c.278G>A	c.(277-279)gGa>gAa	p.G93E		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	93	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	p.G93R(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GCGTACGGCTCCATTTTCTAA	0.358000														58			17		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807786	20807786	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:20807786G>T	uc002npb.1	-	3	1047	c.897C>A	c.(895-897)acC>acA	p.T299T	ZNF626_uc002npc.1_Silent_p.T223T	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTGTAGTAAGGGTTGAGGACC	0.368000														140			16		6.31663e-08	6.33404e-08	1	1	0
ITGAX	3687	broad.mit.edu	37	16	31374539	31374540	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31374539_31374540GG>AA	uc002ebt.3	+	13	1621_1622	c.1554_1555GG>AA	c.(1552-1557)tggggt>tgAAgt	p.518_519WG>*S	ITGAX_uc002ebu.1_Nonsense_Mutation_p.518_519WG>*S|ITGAX_uc010vfk.1_Nonsense_Mutation_p.168_169WG>*S	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	518					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCCACCCCTGGGGTCGCTTTGG	0.639000														101			56		0	0	1	0	0
CD74	972	broad.mit.edu	37	5	149792299	149792299	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149792299C>T	uc003lsc.3	-	0	201	c.14G>A	c.(13-15)aGa>aAa	p.R5K	CD74_uc003lsd.3_Missense_Mutation_p.R5K|CD74_uc003lse.3_Missense_Mutation_p.R5K	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 1, mRNA.	5					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex	MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTCCTGCTTCTCCTCCTGTG	0.607000			T	ROS1	NSCLC									222			97		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481105	140481105	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140481105C>T	uc003lio.3	+	0	872	c.872C>T	c.(871-873)aCt>aTt	p.T291I	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	291	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCGCAAAACTTTTCAGCTA	0.373000														55			26		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101606018	101606018	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:101606018G>A	uc002bwr.3	+	31	5695	c.5376G>A	c.(5374-5376)ttG>ttA	p.L1792L	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1792					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGCGGCCCTTGGACACGGAAC	0.642000														49			9		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762896	24762896	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:24762896G>A	uc001iru.4	+	5	1989	c.1586G>A	c.(1585-1587)gGa>gAa	p.G529E	KIAA1217_uc001irs.3_Missense_Mutation_p.G449E|KIAA1217_uc001irt.4_Missense_Mutation_p.G529E|KIAA1217_uc010qcy.2_Missense_Mutation_p.G529E|KIAA1217_uc010qcz.2_Missense_Mutation_p.G529E|KIAA1217_uc001irv.1_Missense_Mutation_p.G379E|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.G247E|KIAA1217_uc001irz.3_Missense_Mutation_p.G247E|KIAA1217_uc001irx.3_Missense_Mutation_p.G247E|KIAA1217_uc001iry.3_Missense_Mutation_p.G247E	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	529					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGCGCTGCAGGATTATCCAGC	0.552000														75			22		0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	431895	431895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:431895C>T	uc001lpi.2	-	5	503	c.418G>A	c.(418-420)Gat>Aat	p.D140N	ANO9_uc001lph.2_5'Flank|ANO9_uc010qvv.1_5'UTR	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	140						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TTCATCAGATCCTCGAAGGTC	0.677000														40			6		0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85397184	85397184	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:85397184G>A	uc001dkm.3	-	11	1644	c.1403C>T	c.(1402-1404)aCc>aTc	p.T468I	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	468						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TTGGGCAAAGGTTGCAAACAT	0.388000														107			6		0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743580	102743580	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:102743580G>A	uc001krw.2	+	13	2608	c.2224G>A	c.(2224-2226)Gag>Aag	p.E742K	SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc001krx.3_Intron|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron|MRPL43_uc001krz.1_Intron|MRPL43_uc001ksa.1_Intron|MRPL43_uc001ksb.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	737					cell differentiation|nervous system development	integral to membrane	receptor activity	p.G741R(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GTGTCCTGGAGAGGAAGATGA	0.672000														9			5		0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23836763	23836763	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:23836763G>A	uc002nri.3	-	3	1154	c.972C>T	c.(970-972)tcC>tcT	p.S324S		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	324					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)				TAAGGGTTGAGGATTGGGTAA	0.368000														85			15		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182363398	182363398	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:182363398C>T	uc002unu.3	+	14	2352	c.1589C>T	c.(1588-1590)cCa>cTa	p.P530L	ITGA4_uc010frj.1_Missense_Mutation_p.P12L	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	530					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GCAGAGTCTCCACCAAGATTC	0.348000														60			18		0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159092246	159092246	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:159092246C>T	uc003ipq.4	-	1	689	c.282G>A	c.(280-282)gaG>gaA	p.E94E	AK096792_uc003ipu.1_5'Flank|FAM198B_uc003ipp.4_Silent_p.E94E|FAM198B_uc003ipr.4_Silent_p.E94E|FAM198B_uc003ips.3_Silent_p.E94E|AK126266_uc003ipt.1_Non-coding_Transcript	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	94						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGCCCTGGGACTCTGGAGGGG	0.632000														64			25		0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107267485	107267485	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107267485C>T	uc011lvm.2	+	0	942	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATACTGCCTTCATTTCCATCC	0.338000														52			17		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41465770	41465770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41465770G>A	uc002yyq.1	-	20	4180	c.3728C>T	c.(3727-3729)tCg>tTg	p.S1243L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1243	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.D1242N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTAGGAAAACGAGTCGGGAGA	0.478000														49			19		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42231185	42231185	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42231185G>A	uc002orl.3	+	8	2179	c.2058G>A	c.(2056-2058)ggG>ggA	p.G686G	CEACAM5_uc002orj.1_Silent_p.G685G	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	686						anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TCTCAGCTGGGGCCACTGTCG	0.483000														386			150		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138400170	138400170	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:138400170G>A	uc002tva.1	+	19	3822	c.3822G>A	c.(3820-3822)tgG>tgA	p.W1274*	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.R1274L(1)		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)		GCTACAGCTGGGTCCTTGGCA	0.488000														76			33		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059369	248059369	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248059369C>T	uc010pzb.2	+	0	481	c.481C>T	c.(481-483)Cct>Tct	p.P161S	OR2W3_uc001idp.1_Missense_Mutation_p.P161S	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCCATGTCTCCTGTGACCCT	0.647000														65			29		0	0	1	0	0
ERLIN1	10613	broad.mit.edu	37	10	101912014	101912014	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:101912014G>A	uc001kqn.4	-	10	1272	c.921C>T	c.(919-921)ttC>ttT	p.F307F	ERLIN1_uc001kqo.4_Silent_p.F307F|ERLIN1_uc010qpm.2_Silent_p.F223F	NM_006459	NP_006450	O75477	ERLN1_HUMAN	Homo sapiens ER lipid raft associated 1 (ERLIN1), mRNA.	305					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		AGGAGTCCACGAACATGTTAG	0.458000														76			17		0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107379817	107379817	+	Silent	SNP	G	A	A	rs74950199		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107379817G>A	uc011lvr.2	-	0	669	c.669C>T	c.(667-669)tcC>tcT	p.S223S		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGAGGATGCTGGAAATGATTA	0.443000														66			37		0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580894	580894	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:580894C>T	uc002kko.1	+	0	526	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	162	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						AGGAGGAGTTCCTTCGGATCA	0.532000														45			20		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178416279	178416279	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178416279G>A	uc003mjr.3	-	4	1319	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	GRM6_uc010jla.1_5'UTR|GRM6_uc003mjs.1_5'UTR	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	380					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGCATTTGCGGGTGGAATCGT	0.617000														46			10		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40980903	40980903	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:40980903G>A	uc002xkg.3	-	9	1767	c.1583C>T	c.(1582-1584)tCg>tTg	p.S528L	PTPRT_uc010ggj.3_Missense_Mutation_p.S528L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	528	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGGTCCAGCGAGCCGACAGC	0.532000														56			34		0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	169930250	169930250	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169930250G>A	uc001ggv.3	-	17	2381	c.2110C>T	c.(2110-2112)Cga>Tga	p.R704*	KIFAP3_uc021pep.1_Nonsense_Mutation_p.R664*|KIFAP3_uc010ply.2_Nonsense_Mutation_p.R626*|KIFAP3_uc001ggw.2_Nonsense_Mutation_p.R660*|KIFAP3_uc010plx.2_Nonsense_Mutation_p.R406*	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN	Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.	704					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	p.R704*(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGCTCAATTCGATCATCACCA	0.408000														67			36		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107844633	107844633	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:107844633G>A	uc022ccg.1	+	25	2161	c.1959G>A	c.(1957-1959)ggG>ggA	p.G653G	COL4A5_uc004enz.1_Silent_p.G653G|COL4A5_uc004eob.1_Silent_p.G261G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	653	Triple-helical region.		G -> R (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTCCTAAAGGGGATCCAGGTC	0.403000									Alport syndrome with Diffuse Leiomyomatosis					13			9		0	0	1	0	0
KARS	3735	broad.mit.edu	37	16	75675519	75675519	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:75675519G>A	uc002feq.3	-	1	213	c.165C>T	c.(163-165)gcC>gcT	p.A55A	KARS_uc002fer.3_Silent_p.A83A|KARS_uc010cgz.3_5'Flank|KARS_uc010cha.1_Silent_p.A92A	NM_005548	NP_005539	Q15046	SYK_HUMAN	Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	55					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TGTGGTTGGTGGCAGCAGCAG	0.537000														50			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179600700	179600700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179600700C>T	uc021vsy.1	-	46	10966	c.10741G>A	c.(10741-10743)Gaa>Aaa	p.E3581K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E242K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4508	Ig-like 21.						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)			CAAATGGTTTCTATCACAGGA	0.463000														65			31		0	0	1	0	0
NR6A1	2649	broad.mit.edu	37	9	127302413	127302413	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:127302413C>T	uc004bor.1	-	4	673	c.495G>A	c.(493-495)gaG>gaA	p.E165E	NR6A1_uc004boq.1_Silent_p.E161E|NR6A1_uc010mwq.1_Silent_p.E161E	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA.	165					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						AGTGATTGGCCTCTTCCTCAA	0.512000														140			27		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86355248	86355248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:86355248C>T	uc001dlj.3	-	31	3046	c.2971G>A	c.(2971-2973)Gag>Aag	p.E991K	COL24A1_uc001dli.3_Missense_Mutation_p.E127K|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.E291K|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	991	Collagen-like 8.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTACTGGCTCTCCTGGAAGT	0.378000														75			33		0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26860664	26860664	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26860664G>A	uc003acl.3	-	10	1591	c.932C>T	c.(931-933)cCc>cTc	p.P311L	HPS4_uc003aci.3_Missense_Mutation_p.P306L|HPS4_uc003acj.3_Missense_Mutation_p.P175L|HPS4_uc003ack.3_Missense_Mutation_p.P102L|HPS4_uc003acn.3_Missense_Mutation_p.P157L|HPS4_uc010gvd.1_Missense_Mutation_p.P329L|HPS4_uc003ach.3_Missense_Mutation_p.P46L	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	311					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AGGGGATGTGGGATCTGGGGT	0.577000									Hermansky-Pudlak syndrome					78			24		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9034648	9034648	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:9034648C>T	uc003brf.1	-	19	3176	c.2500G>A	c.(2500-2502)Gac>Aac	p.D834N	SRGAP3_uc003brg.1_Missense_Mutation_p.D810N	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	834					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GACTGGAGGTCGTTTTTGGAA	0.582000			T	RAF1	pilocytic astrocytoma									64			20		0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1755004	1755004	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:1755004C>T	uc009zdq.3	+	4	908	c.666C>T	c.(664-666)gtC>gtT	p.V222V	WNT5B_uc001qjj.3_Silent_p.V222V|WNT5B_uc001qjk.3_Silent_p.V222V|WNT5B_uc001qjl.3_Silent_p.V222V	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	222					Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GCCACGGCGTCTCGGGGTCCT	0.617000														78			18		0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25735272	25735272	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:25735272G>A	uc001bkf.3	-	1	323	c.237C>T	c.(235-237)ttC>ttT	p.F79F	RHCE_uc001bkg.3_Silent_p.F79F|RHCE_uc001bkh.3_Silent_p.F79F|RHCE_uc001bki.3_Silent_p.F79F|RHCE_uc001bkj.3_Silent_p.F63F	NM_020485	NP_065231	P18577	RHCE_HUMAN	Homo sapiens Rh blood group, CcEe antigens (RHCE), transcript variant 1, mRNA.	79						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		TGAAGAGGTTGAAGGCCACAC	0.597000														48			18		0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58074568	58074568	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:58074568C>T	uc002ena.3	+	4	1849	c.876C>T	c.(874-876)ccC>ccT	p.P292P		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	292					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						TCAAGCTGCCCGAGGACGATC	0.627000														63			28		0	0	1	0	0
LOC150776	150776	broad.mit.edu	37	2	132277224	132277224	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:132277224C>T	uc002tsz.3	+	1	681	c.234C>T	c.(232-234)ccC>ccT	p.P78P	LOC150776_uc002tsy.3_Non-coding_Transcript					Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane pseudogene (LOC150776), non-coding RNA.																		TCCTTACGCCCCTGGGGCGGT	0.622000														23			6		0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3672097	3672097	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3672097C>T	uc001akv.2	+	2	600	c.519C>T	c.(517-519)ttC>ttT	p.F173F		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	173										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)		AGGACCTGTTCTTGGCCAGGC	0.617000														226			102		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20801753	20801753	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:20801753C>T	uc001reh.2	+	12	2737	c.2697C>T	c.(2695-2697)ttC>ttT	p.F899F	PDE3A_uc021qwa.1_Silent_p.F577F	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	899	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATTTCCGTTTCCTTGTCATTG	0.403000														102			24		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1914014	1914014	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1914014G>A	uc002qxe.3	-	12	2642	c.1815C>T	c.(1813-1815)ctC>ctT	p.L605L	MYT1L_uc002qxd.3_Silent_p.L603L|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	605					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTGGGTACCTGAGCACGCGGT	0.637000														27			26		0	0	1	0	0
JKAMP	51528	broad.mit.edu	37	14	59954436	59954436	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:59954436G>A	uc001xei.4	+	2	685	c.183G>A	c.(181-183)caG>caA	p.Q61Q	JKAMP_uc001xef.4_Silent_p.Q47Q|JKAMP_uc001xeh.4_Silent_p.Q41Q|JKAMP_uc001xeg.4_Silent_p.Q55Q|JKAMP_uc010try.2_5'UTR|JKAMP_uc001xej.4_5'UTR	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	Homo sapiens JNK1/MAPK8-associated membrane protein (JKAMP), transcript variant 2, mRNA.	62					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						AATATTGTCAGCCTTGCACAG	0.358000														193			88		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70974910	70974910	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70974910G>A	uc001swb.4	-	7	1860	c.1830C>T	c.(1828-1830)ttC>ttT	p.F610F	PTPRB_uc010sto.2_Silent_p.F610F|PTPRB_uc010stp.2_Silent_p.F520F|PTPRB_uc001swc.4_Silent_p.F828F|PTPRB_uc001swa.4_Silent_p.F828F|PTPRB_uc001swd.4_Silent_p.F827F|PTPRB_uc009zrr.2_Silent_p.F707F	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	610	Fibronectin type-III 7.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAGAGAGTGGAAGCTGTATC	0.473000														113			49		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92560267	92560267	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:92560267C>T	uc010tif.2	+	5	1723	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	453						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGGAATTGATCCTGTGATAAA	0.353000														63			16		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938645	38938645	+	Silent	SNP	G	A	A	rs145915658		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38938645G>A	uc021wvy.1	-	13	2293	c.2094C>T	c.(2092-2094)gtC>gtT	p.V698V	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	698					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAAGGGCTCCGACAGAGTTGC	0.433000														54			16		0	0	1	0	0
LOC494150	0	broad.mit.edu	37	12	51518800	51518800	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51518800G>A	uc010snb.1	-	0	466	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	TFCP2_uc001rxw.3_Intron|TFCP2_uc001rxv.2_Intron|TFCP2_uc009zlx.2_Intron|TFCP2_uc009zly.1_Intron					Homo sapiens cDNA FLJ76366 complete cds, highly similar to Homo sapiens prohibitin pseudogene, mRNA.																		GCATCAAAGCGAGCCACCACT	0.547000														9			7		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883024	228883024	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228883024C>T	uc002vpq.2	-	6	2593	c.2546G>A	c.(2545-2547)aGt>aAt	p.S849N	SPHKAP_uc002vpp.2_Missense_Mutation_p.S849N|SPHKAP_uc010zlx.1_Missense_Mutation_p.S849N	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	849						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCATTCTCACTGTGATGAGG	0.498000														88			42		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836064	12836064	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12836064C>T	uc001aui.3	+	1	693	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	222										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTATAAGGTTCGCCCCTTACC	0.527000														126			62		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36109295	36109295	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:36109295C>T	uc003gsq.2	-	26	4515	c.4177G>A	c.(4177-4179)Gaa>Aaa	p.E1393K		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1393	Ras-associating.				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						AGTACATTTTCCTTGTAGTGA	0.343000														99			43		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73069424	73069424	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73069424G>A	uc004ebm.1	-	0		c.3165C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GCTCTCAATTGACATTCCCTA	0.393000														13			17		0	0	1	0	0
SLC27A4	10999	broad.mit.edu	37	9	131118023	131118023	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131118023C>T	uc004but.3	+	11	2007	c.1722C>T	c.(1720-1722)ccC>ccT	p.P574P	SLC27A4_uc004buu.3_Silent_p.P168P	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	574					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						AGGAACTGCCCCTGTATGCGC	0.652000														74			21		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110737331	110737331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110737331C>T	uc009wfq.3	+	8	1891	c.1430C>T	c.(1429-1431)aCc>aTc	p.T477I	SLC6A17_uc001dze.1_Missense_Mutation_p.T75I	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	477					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ATGATCGGGACCATGGCAGGC	0.602000														58			14		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61585240	61585240	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61585240C>T	uc010xev.2	+	3	366	c.276C>T	c.(274-276)ttC>ttT	p.F92F	SERPINB2_uc010xew.2_Silent_p.F92F	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	107					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)	ACTCTGATTTCCAAACACTTA	0.353000														71			22		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939636	12939636	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12939636C>T	uc001aun.2	-	3	1237	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	389										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATGGGATTTCCACAGAAGCT	0.522000														286			94		0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13534810	13534810	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:13534810C>T	uc001imm.2	-	4	779	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	BEND7_uc001imo.4_Missense_Mutation_p.R174Q	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	213							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						ATTTCTCTTTCGTGAGACAGC	0.433000														114			31		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367888	107367888	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107367888G>A	uc011lvq.2	-	0	21	c.21C>T	c.(19-21)acC>acT	p.T7T		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCACCAGAATGGTGTGGTTTT	0.368000														88			22		0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64263654	64263654	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:64263654G>A	uc002amr.3	-	3	452	c.421C>T	c.(421-423)Cac>Tac	p.H141Y	DAPK2_uc010uim.2_Non-coding_Transcript|DAPK2_uc010bgu.1_Missense_Mutation_p.H131Y	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	141	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		TTCTTTGTGTGAAGGTAGTTC	0.483000														338			24		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679638	100679639	+	Missense_Mutation	DNP	GG	AA	AA	rs145386724		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100679638_100679639GG>AA	uc003uxp.1	+	2	4994_4995	c.4941_4942GG>AA	c.(4939-4944)gaggct>gaAAct	p.A1648T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1648	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGTCCTGAGGCTAGCACCCT	0.505000														516			130		0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68396090	68396090	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:68396090G>A	uc003xxq.4	-	7	1007	c.751C>T	c.(751-753)Cga>Tga	p.R251*	CPA6_uc003xxr.4_Nonsense_Mutation_p.R103*|CPA6_uc003xxs.2_Nonsense_Mutation_p.R251*	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	251					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.R251Q(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CTCCAAAATCGATCCTAGACA	0.393000														138			70		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995778	140995778	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140995778C>T	uc004fbt.3	+	3	2912	c.2588C>T	c.(2587-2589)tCa>tTa	p.S863L	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S522L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	863							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)					TCCTCCACTTCATTGAGCCCA	0.517000										HNSCC(15;0.026)				66			109		0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	14066290	14066290	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:14066290C>T	uc002wou.3	+	2	451	c.187C>T	c.(187-189)Cag>Tag	p.Q63*	MACROD2_uc002wot.3_Nonsense_Mutation_p.Q63*	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	63	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGAAACATCCCAGGTGAAGAA	0.303000														61			19		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73558989	73558989	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73558989C>T	uc001jrx.4	+	48	7557	c.7167C>T	c.(7165-7167)atC>atT	p.I2389I	CDH23_uc001jsg.4_Silent_p.I152I|CDH23_uc001jsh.4_Silent_p.I152I|CDH23_uc001jsi.4_Silent_p.I152I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2392	Cadherin 22.				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	p.I2397I(1)		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						ACCTGGAAATCGTGGACATCA	0.617000														49			7		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14106380	14106380	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:14106380C>T	uc001avi.3	+	7	2946	c.2090C>T	c.(2089-2091)aCc>aTc	p.T697I	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.T697I|PRDM2_uc021ogk.1_Missense_Mutation_p.T460I|PRDM2_uc001avk.3_Missense_Mutation_p.T496I|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	697						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTTCTTCAAACCCAAGATAAA	0.398000														87			32		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70964677	70964677	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:70964677G>A	uc003pfg.4	-	23	1813	c.1654C>T	c.(1654-1656)Cct>Tct	p.P552S	COL9A1_uc003pfe.4_Missense_Mutation_p.P125S|COL9A1_uc003pff.4_Missense_Mutation_p.P309S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	552	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TTTGTTCCAGGCATTCCAGGG	0.468000														27			11		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641207	57641207	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57641207G>A	uc002qny.3	+	3	1520	c.1164G>A	c.(1162-1164)atG>atA	p.M388I	USP29_uc021vci.1_Missense_Mutation_p.M388I	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	388					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			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)		AAGAAGACATGGAAAAATTAA	0.378000														75			34		0	0	1	0	0
SLC1A1	6505	broad.mit.edu	37	9	4576603	4576603	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:4576603G>A	uc003zij.2	+	9	1286	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	SPATA6L_uc003zik.3_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	345					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	CCGCTGTGCTGAAGAAAATAA	0.478000														92			10		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142574244	142574244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142574244C>T	uc003wbx.2	-	5	908	c.679G>A	c.(679-681)Gac>Aac	p.D227N	TRPV6_uc003wbw.1_Missense_Mutation_p.D13N|TRPV6_uc010lou.1_Missense_Mutation_p.D98N	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	227					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGCAGGTGGTCCCCATGTCTG	0.572000														48			25		0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153276337	153276337	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153276337C>T	uc001fbn.1	-	3	578	c.525G>A	c.(523-525)agG>agA	p.R175R		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	175					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTTACCCTTCCTGGGCATCA	0.537000														72			29		0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69344659	69344659	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69344659C>T	uc003hdz.4	+	8	1124	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	354	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CGCCATAACTCCTAGAATGTT	0.393000														185			50		0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104897581	104897581	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:104897581T>G	uc001pim.4	-	7	1104	c.1104A>C	c.(1102-1104)gaA>gaC	p.E368D	CASP1_uc001pig.3_Missense_Mutation_p.E275D|CASP1_uc021qpq.1_Missense_Mutation_p.E347D|CASP1_uc021qpr.1_Missense_Mutation_p.E227D|CASP1_uc021qps.1_Missense_Mutation_p.E52D|CASP1_uc021qpp.1_Missense_Mutation_p.E368D|CASP1_uc021qpt.1_Missense_Mutation_p.E275D|CASP1_uc010rve.2_Missense_Mutation_p.E368D|CASP1_uc010rvf.2_Missense_Mutation_p.E275D|CASP1_uc010rvg.2_Missense_Mutation_p.E347D|CASP1_uc010rvh.2_Missense_Mutation_p.E227D|CASP1_uc010rvi.2_Missense_Mutation_p.E52D|CASP1_uc009yxi.3_Missense_Mutation_p.E347D|CASP1_uc021qpu.1_Missense_Mutation_p.E275D|CASP1_uc021qpv.1_Missense_Mutation_p.E347D|CASP1_uc021qpw.1_Missense_Mutation_p.E227D|CASP1_uc021qpx.1_Missense_Mutation_p.E52D|CASP1_uc010rvj.2_Missense_Mutation_p.E368D|CASP1_uc009yxj.3_Missense_Mutation_p.E213D|CASP1_uc010rvk.2_3'UTR	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	368					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TGCGGAAAATTTCCTCCACAT	0.408000														72			26		0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435978	5435978	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:5435978G>A	uc001ihy.3	-	3	881	c.843C>T	c.(841-843)ccC>ccT	p.P281P	TUBAL3_uc001ihz.3_Silent_p.P241P	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	281					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CAGAGACGATGGGGGCGAAGG	0.517000														107			39		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023520	76023520	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:76023520G>A	uc010kbe.3	-	5	2567	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	FILIP1_uc003phy.1_Silent_p.F676F|FILIP1_uc003phz.3_Silent_p.F577F|FILIP1_uc003pia.3_Silent_p.F676F|FILIP1_uc003pib.1_Silent_p.F428F	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	676								p.S678S(1)|p.F676F(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTTGAGAGAGGAAGTTAGCCT	0.433000														202			117		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455121	84455121	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:84455121G>A	uc001vlk.3	-	0	1408	c.522C>T	c.(520-522)ttC>ttT	p.F174F		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	174						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCACATACTGGAACACGTTGG	0.527000														79			25		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111409812	111409812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:111409812G>A	uc003iab.4	+	1	1102	c.760G>A	c.(760-762)Gga>Aga	p.G254R		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	254					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CAAAGAATACGGAGCACTTTC	0.383000														70			28		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189872637	189872637	+	Silent	SNP	C	T	T	rs148918486		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189872637C>T	uc002uqj.1	+	45	3507	c.3390C>T	c.(3388-3390)atC>atT	p.I1130I		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1130	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGGTGCAATCGGCAGTCCAG	0.468000														85			32		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144995895	144995895	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144995895G>A	uc003zaf.1	-	31	8675	c.8505C>T	c.(8503-8505)atC>atT	p.I2835I	PLEC_uc003zab.1_Silent_p.I2698I|PLEC_uc003zac.1_Silent_p.I2702I|PLEC_uc003zad.2_Silent_p.I2698I|PLEC_uc003zae.1_Silent_p.I2666I|PLEC_uc003zag.1_Silent_p.I2676I|PLEC_uc003zah.2_Silent_p.I2684I|PLEC_uc003zaj.2_Silent_p.I2725I	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2835	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACAGCCCTGCGATACTGCTGC	0.672000														42			11		0	0	1	0	0
DDX55	57696	broad.mit.edu	37	12	124094582	124094582	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124094582C>T	uc001ufi.3	+	6	672	c.648C>T	c.(646-648)ggC>ggT	p.G216G	DDX55_uc001ufh.3_Silent_p.G69G|DDX55_uc001ufj.1_Silent_p.G69G|DDX55_uc001ufk.3_Silent_p.G69G	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 (DDX55), mRNA.	216	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TGAGAGCGGGCCTCCGGAACC	0.577000														52			24		0	0	1	0	0
KLRC4	8302	broad.mit.edu	37	12	10560269	10560269	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10560269G>A	uc001qye.3	-	3	642	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	KLRK1_uc001qyc.3_5'UTR|KLRK1_uc009zhk.3_5'UTR|KLRK1_uc001qyd.3_5'UTR	NM_013431	NP_038459	O43908	NKG2F_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 4 (KLRC4), mRNA.	154					cellular defense response	integral to membrane	binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						AAGCAGATCAGAGTTCTTCGA	0.348000														267			30		0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207505	81207505	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:81207505C>T	uc003hmd.3	+	2	723	c.486C>T	c.(484-486)ttC>ttT	p.F162F	FGF5_uc003hme.3_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	162					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						ACTGCAAGTTCAGGGAGCGTT	0.393000														183			34		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163241215	163241215	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:163241215C>T	uc002uch.2	-	12	3174	c.2945G>A	c.(2944-2946)aGa>aAa	p.R982K		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	982					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AGAGTGACTTCTTTTATCTAT	0.408000														162			13		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72993643	72993643	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:72993643G>A	uc002fck.3	-	1	1075	c.402C>T	c.(400-402)gtC>gtT	p.V134V	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	134					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCGGCTGGTAGACGATCTCCC	0.711000														50			15		0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270886	84270886	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84270886C>T	uc010voc.2	-	1	327	c.206G>A	c.(205-207)aGg>aAg	p.R69K	KCNG4_uc002fhu.1_Missense_Mutation_p.R69K	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	69						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GAGGAGATACCTCCTGCCCCC	0.622000														80			13		0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28877987	28877987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:28877987C>T	uc002dri.3	+	3	1011	c.572C>T	c.(571-573)cCc>cTc	p.P191L	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Intron|SH2B1_uc002drj.3_Missense_Mutation_p.P191L|SH2B1_uc002drk.3_Missense_Mutation_p.P191L|SH2B1_uc002drl.3_Missense_Mutation_p.P191L|SH2B1_uc010vdd.2_Intron|SH2B1_uc010vde.2_Missense_Mutation_p.P191L|SH2B1_uc002drm.3_Missense_Mutation_p.P191L	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	191	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TCGTCAGGCCCCCCAGTCTTA	0.657000														85			7		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13361447	13361447	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:13361447G>A	uc003bxv.1	-	36	5282	c.5199C>T	c.(5197-5199)ttC>ttT	p.F1733F		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1733					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCTCCTTTGCGAATGCCAGCA	0.627000														58			17		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45949718	45949718	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45949718C>T	uc002zfe.1	-	4	819	c.753G>A	c.(751-753)ggG>ggA	p.G251G	TSPEAR_uc010gpv.1_Silent_p.G183G	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	251					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CTTCTGGCTTCCCCGTGAGAG	0.642000														54			30		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890104	139890104	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:139890104C>T	uc003yvd.3	-	2	994	c.547G>A	c.(547-549)Gag>Aag	p.E183K		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	183	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCAGCTCCTCCTTGAGTGCC	0.692000										HNSCC(7;0.00092)				24			11		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96824616	96824616	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96824616G>A	uc001kkb.3	-	3	678	c.583C>T	c.(583-585)Ctc>Ttc	p.L195F	CYP2C8_uc010qoa.2_Missense_Mutation_p.L125F|CYP2C8_uc010qoc.2_Missense_Mutation_p.L93F|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.L109F|CYP2C8_uc021pwl.1_Missense_Mutation_p.L125F|CYP2C8_uc010qod.1_Missense_Mutation_p.L109F	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	195					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	p.L195V(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ATCAGGGTGAGAAAATTCTGA	0.408000														97			26		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43814059	43814059	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43814059C>T	uc001zrt.3	+	3	855	c.388C>T	c.(388-390)Cct>Tct	p.P130S		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	130						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCTTATCTCTCCTGAGCTTGG	0.552000														67			30		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33703677	33703677	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:33703677C>T	uc001uuw.3	-	4	1263	c.1137G>A	c.(1135-1137)ggG>ggA	p.G379G	STARD13_uc001uuu.3_Silent_p.G371G|STARD13_uc001uuv.3_Silent_p.G261G|STARD13_uc001uux.3_Silent_p.G344G|STARD13_uc010abh.1_Silent_p.G364G|STARD13_uc021rhz.1_Silent_p.G371G|STARD13_uc021ria.1_Silent_p.G261G	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	379					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGCTTTGGTCCCCTGCATCCG	0.547000														104			22		0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112167654	112167654	+	Nonsense_Mutation	SNP	C	T	T	rs146335507		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:112167654C>T	uc009zvx.3	+	10	1581	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	ACAD10_uc001tsp.3_Nonsense_Mutation_p.R430*|ACAD10_uc001tsq.3_Nonsense_Mutation_p.R430*|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.	430							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						TAAGCAGTATCGAGCTTCCGA	0.542000														55			16		0	0	1	0	0
PDCD7	10081	broad.mit.edu	37	15	65411101	65411101	+	Missense_Mutation	SNP	G	A	A	rs61756022	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65411101G>A	uc002aol.3	-	4	1467	c.1412C>T	c.(1411-1413)cCg>cTg	p.P471L		NM_005707	NP_005698	Q8N8D1	PDCD7_HUMAN	Homo sapiens programmed cell death 7 (PDCD7), mRNA.	471					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						GCTGGGGAGCGGGGGAAGGAC	0.498000														81			23		0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	818396	818396	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:818396G>A	uc002cjw.2	+	15	1749	c.1638G>A	c.(1636-1638)gaG>gaA	p.E546E	MSLN_uc002cju.1_Silent_p.E538E|MSLN_uc002cjt.1_Silent_p.E538E|MSLN_uc010brd.1_Silent_p.E537E|MSLN_uc002cjy.1_Silent_p.E203E|MIR662_uc021tac.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	546					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CTGTGGCTGAGGTGCAGAAAC	0.682000														25			10		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140793597	140793597	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140793597C>T	uc003lkl.2	+	0	855	c.855C>T	c.(853-855)ttC>ttT	p.F285F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Silent_p.F285F	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	281	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)			CATATTCATTCCGAAAATTAC	0.418000														13			8		0	0	1	0	0
CAPZA2	830	broad.mit.edu	37	7	116550294	116550294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:116550294C>T	uc003vil.3	+	6	617	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C	CAPZA2_uc011knk.2_Non-coding_Transcript	NM_006136	NP_006127	P47755	CAZA2_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 2 (CAPZA2), mRNA.	172					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	F-actin capping protein complex|cytosol|extracellular region	actin binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			AAGGAATGGTCGTTGGAGGTC	0.318000														45			23		0	0	1	0	0
RABL2A	11159	broad.mit.edu	37	2	114398531	114398531	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:114398531C>T	uc002tks.4	+	6	499	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	RABL2A_uc002tkn.4_Missense_Mutation_p.R120W|RABL2A_uc010flb.3_Missense_Mutation_p.R120W|RABL2A_uc002tkm.4_Intron|RABL2A_uc002tkr.3_Missense_Mutation_p.R120W|RABL2A_uc002tkp.4_Missense_Mutation_p.R120W	NM_013412	NP_038198	Q9UBK7	RBL2A_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 2A (RABL2A), transcript variant 1, mRNA.	120					small GTPase mediated signal transduction		GTP binding|GTPase activity	p.R120L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						TACAGAGCTTCGGGAGTTCAG	0.512000														55			22		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129470130	129470130	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:129470130C>T	uc021zfb.1	+	6	1021	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C	LAMA2_uc003qbn.3_Missense_Mutation_p.R306C|LAMA2_uc003qbo.3_Missense_Mutation_p.R306C	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	306	Laminin EGF-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTAGAAATCTCGCTGTGAGTG	0.418000														58			35		0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5731072	5731072	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:5731072C>T	uc003gil.1	+	2	523	c.339C>T	c.(337-339)ttC>ttT	p.F113F	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	113					muscle organ development	integral to membrane		p.A112S(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TCACAGCATTCGCCCTGAAGG	0.483000														85			7		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301398	11301398	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:11301398G>A	uc010hdr.3	+	1	1017	c.675G>A	c.(673-675)gaG>gaA	p.E225E	HRH1_uc010hds.3_Silent_p.E225E|HRH1_uc010hdt.3_Silent_p.E225E|HRH1_uc003bwb.4_Silent_p.E225E|HRH1_uc021wtb.1_Silent_p.E225E	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	225					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	AGCACCGGGAGCTCATCAATA	0.542000														71			32		0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117623	46117623	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46117623C>T	uc002zfw.1	+	0	537	c.507C>T	c.(505-507)gcC>gcT	p.A169A	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	169	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						GCTCTGGGGCCTCCTCTCTGT	0.647000														275			63		0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46615854	46615854	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:46615854C>T	uc003bhb.1	+	4	777	c.654C>T	c.(652-654)ttC>ttT	p.F218F	PPARA_uc003bgw.1_Silent_p.F218F|PPARA_uc003bgx.1_Silent_p.F218F|PPARA_uc010hab.1_Silent_p.F218F|PPARA_uc003bha.3_Silent_p.F218F|PPARA_uc010hac.1_Intron	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	218					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TGAAGAACTTCAACATGAACA	0.453000														40			4		0	0	1	0	0
ATP6V1F	9296	broad.mit.edu	37	7	128503058	128503058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128503058C>T	uc022all.1	+	0	202	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	KCP_uc003vob.1_Non-coding_Transcript|ATP6V1F_uc003voc.2_Missense_Mutation_p.P34S	NM_001198909	NP_001185838	Q16864	VATF_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F (ATP6V1F), transcript variant 2, mRNA.	34					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism			lung(1)|ovary(1)|prostate(1)	3						GAACCGCCATCCCAATTTCCT	0.582000											OREG0018299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		78			39		0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114268724	114268724	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:114268724C>T	uc003vhb.3	+	3	762	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.L155L|FOXP2_uc003vha.3_Silent_p.L38L|FOXP2_uc011kmv.2_Silent_p.L130L|FOXP2_uc011kmu.2_Silent_p.L130L|FOXP2_uc010ljz.2_Silent_p.L38L|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_Silent_p.L130L|FOXP2_uc003vgw.3_Silent_p.L155L|FOXP2_uc003vgx.2_Silent_p.L130L|FOXP2_uc003vhc.3_Silent_p.L155L|FOXP2_uc003vhd.3_Silent_p.L130L	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	130	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GGCTGTCATGCTGCAGCAGGT	0.488000														110			53		0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32891041	32891041	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:32891041C>T	uc002edh.1	-	3	189	c.13_splice	c.e3-1	p.G5_splice	SLC6A10P_uc002edi.1_Splice_Site					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		TACATCCCACCCTGGGGGACA	0.597000														70			22		0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190437675	190437675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:190437675G>A	uc002uqp.4	-	3	635	c.284C>T	c.(283-285)tCg>tTg	p.S95L	SLC40A1_uc002uqq.2_Missense_Mutation_p.S95L	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	95					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TACCACCAGCGAGGTCTGGGC	0.413000														67			15		0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126062903	126062903	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:126062903T>C	uc003yrt.3	-	17	2431	c.2102A>G	c.(2101-2103)gAt>gGt	p.D701G	KIAA0196_uc011lir.2_Missense_Mutation_p.D553G	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	701					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTGCTTTGGATCCACCTAAGT	0.448000														67			15		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17353254	17353254	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:17353254G>A	uc002dfa.3	-	2	589	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	168					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCTGGGTGCGAAGTTGCTGT	0.498000														98			28		0	0	1	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202446915	202446915	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:202446915C>T	uc002uyf.3	-	4	594	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	ALS2CR11_uc002uye.3_Missense_Mutation_p.R181Q|ALS2CR11_uc010fti.3_Missense_Mutation_p.R181Q|ALS2CR11_uc021vvc.1_Missense_Mutation_p.R181Q	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	181										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AATATTATTCCGCTTATCATC	0.303000														89			21		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413680	178413680	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178413680C>T	uc003mjr.3	-	7	1754	c.1575G>A	c.(1573-1575)ggG>ggA	p.G525G	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Silent_p.G108G|GRM6_uc003mjs.1_Silent_p.G145G	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	525					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TCTTCCGCTCCCCCGGCCCGC	0.672000														46			13		0	0	1	0	0
STL	7955	broad.mit.edu	37	6	125231419	125231419	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:125231419G>A	uc003pzq.3	-	6		c.3315C>T								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		AATTTGTTATGAAATTGGAGC	0.308000			T	ETV6	B-ALL									12			6		0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308496	248308496	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248308496G>A	uc010pze.2	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L15L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATCCTCCTGGGAATCTTCAAT	0.443000														265			111		0	0	1	0	0
KRT18	3875	broad.mit.edu	37	12	53343040	53343040	+	Missense_Mutation	SNP	C	T	T	rs74379840		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53343040C>T	uc001sbe.3	+	1	152	c.83C>T	c.(82-84)cCg>cTg	p.P28L	KRT18_uc009zmn.2_Missense_Mutation_p.P28L|KRT18_uc001sbg.3_Missense_Mutation_p.P28L|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	28	Head.				Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GGCGCCCGGCCGGTCAGCAGC	0.697000														94			46		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207640098	207640098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207640098G>A	uc001hfw.3	+	1	405	c.286G>A	c.(286-288)Gta>Ata	p.V96I	CR2_uc001hfv.3_Missense_Mutation_p.V96I|CR2_uc009xch.3_Missense_Mutation_p.V96I	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	96	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGAGCCCATAGTACCAGGAGG	0.398000														112			21		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24923706	24923706	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24923706C>T	uc001ywo.3	+	0	3166	c.2692C>T	c.(2692-2694)Cat>Tat	p.H898Y		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	898					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)		ATCCATCTCTCATTCCACACT	0.502000														149			52		0	0	1	0	0
CCDC102A	92922	broad.mit.edu	37	16	57552561	57552561	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:57552561C>T	uc002elw.3	-	4	1227	c.1014G>A	c.(1012-1014)cgG>cgA	p.R338R		NM_033212	NP_149989	Q96A19	C102A_HUMAN	Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.	338										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CGGCCATTTTCCGGTCCATGC	0.652000														27			8		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107938511	107938511	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:107938511G>A	uc022ccg.1	+	51	5038	c.4836G>A	c.(4834-4836)ggG>ggA	p.G1612G	COL4A5_uc004enz.1_Silent_p.G1606G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1606	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CAAGTGCAGGGGCAGAAGGCT	0.493000									Alport syndrome with Diffuse Leiomyomatosis					77			16		0	0	1	0	0
ENTPD8	377841	broad.mit.edu	37	9	140331432	140331432	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140331432C>T	uc004cmw.3	-	4	628	c.444G>A	c.(442-444)caG>caA	p.Q148Q	ENTPD8_uc004cmx.3_Silent_p.Q148Q|ENTPD8_uc004cmy.2_3'UTR	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8), transcript variant 1, mRNA.	148						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGCCCAGGACCTGGGTGACTG	0.662000														71			12		0	0	1	0	0
FOXI2	399823	broad.mit.edu	37	10	129536850	129536850	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:129536850G>A	uc009yas.2	+	1	578	c.578G>A	c.(577-579)aGg>aAg	p.R193K	BC132944_uc009yar.1_5'Flank	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN	Homo sapiens forkhead box I2 (FOXI2), mRNA.	193					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA 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			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				AACTTCCGAAGGAAGAGGAAG	0.622000														20			8		0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142437254	142437254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:142437254C>T	uc011dbj.2	+	16	1515	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y	ARHGAP26_uc003lmt.3_Missense_Mutation_p.H494Y|ARHGAP26_uc003lmw.3_Missense_Mutation_p.H494Y	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	494	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCCTTGTTCATCGGCTCCC	0.453000														129			41		0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44147827	44147827	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:44147827C>T	uc003owt.1	+	13	1605	c.1567C>T	c.(1567-1569)Ccc>Tcc	p.P523S	CAPN11_uc011dvn.2_Missense_Mutation_p.P177S	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	523	Domain III.				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)			TATCATTATTCCCTCCACCTT	0.552000														45			26		0	0	1	0	0
POMT2	29954	broad.mit.edu	37	14	77750178	77750178	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:77750178G>A	uc001xti.2	-	14	1816	c.1615C>T	c.(1615-1617)Cct>Tct	p.P539S	POMT2_uc001xth.1_Missense_Mutation_p.P237S	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.	539					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		AAGATCTCAGGAAAACTGGGC	0.473000														84			34		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41686444	41686444	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:41686444G>A	uc003gvz.4	+	26	4293	c.3876G>A	c.(3874-3876)ggG>ggA	p.G1292G	LIMCH1_uc003gwe.4_Silent_p.G831G|LIMCH1_uc003gvu.4_Silent_p.G908G|LIMCH1_uc003gvv.4_Silent_p.G908G|LIMCH1_uc003gvw.4_Silent_p.G907G|LIMCH1_uc003gvx.4_Silent_p.G920G|LIMCH1_uc003gvy.4_Silent_p.G736G|LIMCH1_uc003gwa.4_Silent_p.G748G|LIMCH1_uc011byu.2_Silent_p.G741G|LIMCH1_uc003gwc.4_Silent_p.G753G|LIMCH1_uc003gwd.4_Silent_p.G741G|LIMCH1_uc011byv.2_Silent_p.G658G|LIMCH1_uc011byw.2_Silent_p.G207G	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	908					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CTCATTCTGGGAACCCTGTAT	0.473000														75			20		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142612498	142612498	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142612498C>T	uc003wby.1	-	9	1529	c.1265G>A	c.(1264-1266)gGg>gAg	p.G422E		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	422					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.G422V(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GAATGGCCCCCCAAGAATCGT	0.498000														137			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082505	9082505	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9082505C>T	uc002mkp.3	-	0	9514	c.9310G>A	c.(9310-9312)Gag>Aag	p.E3104K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3105	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						GTTGTTCCCTCTTCTTCTGCA	0.488000														212			82		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91729	91729	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000211.1:91729C>T	uc003bnz.1	+	6		c.1085C>T			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		AATACCAGACCAAAGTGGATG	0.348000														13			9		0	0	1	0	0
RAF1	5894	broad.mit.edu	37	3	12660110	12660110	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:12660110G>A	uc003bxf.4	-	1	526	c.111C>T	c.(109-111)ggC>ggT	p.G37G	RAF1_uc011auu.2_5'UTR	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	37					Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	GGCGCTGATAGCCAAACTGCT	0.468000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					78			34		0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88211809	88211809	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:88211809G>A	uc001kdn.3	-	15	3149	c.3140C>T	c.(3139-3141)tCt>tTt	p.S1047F	WAPAL_uc009xsv.3_Intron|WAPAL_uc001kdo.3_Missense_Mutation_p.S1010F|WAPAL_uc009xsw.3_Missense_Mutation_p.S1004F	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	1010	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						AGAATCAAAAGAGCACGATGT	0.428000														133			14		0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36954816	36954816	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36954816C>T	uc002xib.2	+	9	1217	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	385					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCCTGGCTTCCCTCTTCCTGA	0.597000														29			11		0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216202	111216202	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111216202G>A	uc001dzv.1	-	0	1454	c.1230C>T	c.(1228-1230)atC>atT	p.I410I		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	410						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGAGAAAAGGATGACCCCAA	0.577000														59			18		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44053363	44053363	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:44053363G>A	uc001jaw.4	-	1	818	c.165C>T	c.(163-165)ttC>ttT	p.F55F	ZNF239_uc001jax.4_Silent_p.F55F|ZNF239_uc009xmj.3_Silent_p.F55F|ZNF239_uc009xmk.3_Silent_p.F55F|ZNF239_uc021pph.1_Silent_p.F55F	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	p.F55F(2)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CAATGTTTTCGAAACAACCAC	0.413000														106			46		0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43268903	43268903	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43268903G>A	uc021yzt.1	+	5	957	c.858G>A	c.(856-858)ctG>ctA	p.L286L	SLC22A7_uc010jyl.1_Silent_p.L287L|SLC22A7_uc003ous.3_Silent_p.L284L|SLC22A7_uc003out.3_Silent_p.L284L	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	286						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GCTGGCTTCTGACCCAAGGCC	0.572000														69			35		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167802338	167802338	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167802338G>A	uc001ger.3	-	24	3778	c.3480C>T	c.(3478-3480)ctC>ctT	p.L1160L	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Silent_p.L1007L|ADCY10_uc009wvk.3_Silent_p.L1068L	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1160					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTCGGTTGAGGAGCTTCAGTG	0.453000														246			101		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135693067	135693067	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:135693067C>T	uc003lbn.2	-	1	231	c.9G>A	c.(7-9)agG>agA	p.R3R	TRPC7_uc010jef.2_5'UTR|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.R3R|TRPC7_uc010jei.2_Silent_p.R3R	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	3					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGTGCTGTTCCTCAACCTAT	0.527000														29			11		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123456259	123456259	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:123456259C>T	uc003ego.3	-	7	1002	c.720G>A	c.(718-720)ggG>ggA	p.G240G	MYLK_uc011bjw.2_Silent_p.G240G|MYLK_uc003egp.3_Silent_p.G240G|MYLK_uc003egq.3_Silent_p.G240G|MYLK_uc003egr.3_Silent_p.G240G|MYLK_uc003egs.3_Silent_p.G64G|MYLK_uc010hrs.1_Silent_p.G240G	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	240	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCGAGGCCTTCCCCGACCCGT	0.567000														106			55		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73678100	73678100	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:73678100C>T	uc002sje.1	+	7	4554	c.4443C>T	c.(4441-4443)ccC>ccT	p.P1481P	ALMS1_uc002sjf.1_Silent_p.P1439P|ALMS1_uc002sjg.3_Silent_p.P869P|ALMS1_uc002sjh.1_Silent_p.P869P	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1481	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGAGAAGCCCATTGTTATCT	0.507000														131			65		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485093	97485093	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:97485093C>T	uc001vmw.3	+	1	1081	c.1057C>T	c.(1057-1059)Ctc>Ttc	p.L353F		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	353						integral to membrane	sulfotransferase activity	p.L353L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CTTCTTTGGGCTCACTGAGTT	0.463000														79			31		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169825875	169825875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169825875C>T	uc002ueo.1	-	15	2122	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	ABCB11_uc010zda.1_Missense_Mutation_p.E108K|ABCB11_uc010zdb.1_Missense_Mutation_p.E142K	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	666	Interaction with HAX1 (By similarity).				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ATGTCCTCTTCATTAAGAGCT	0.368000														26			11		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11607595	11607595	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11607595G>A	uc002gne.3	+	24	5295	c.5227G>A	c.(5227-5229)Gag>Aag	p.E1743K	DNAH9_uc010coo.3_Missense_Mutation_p.E1037K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1743	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGAAGGCTATGAGAGTGCCAT	0.527000														43			27		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404233	20404233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20404233G>A	uc001vwj.2	+	0	467	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GTACAATTATGAACCGGAGGC	0.443000														82			33		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21425035	21425035	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:21425035G>A	uc002kuq.3	+	29	3752	c.3666G>A	c.(3664-3666)atG>atA	p.M1222I	LAMA3_uc002kur.3_Missense_Mutation_p.M1222I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1222	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAAATCCATGGACAAGTCAC	0.423000														38			15		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6501056	6501056	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6501056G>A	uc001amy.3	+	4	1089	c.921G>A	c.(919-921)acG>acA	p.T307T		NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	307					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		ACGGGTACACGGCCGCCGACC	0.697000														19			4		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509747	106509747	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:106509747G>A	uc003vdv.4	+	1	1826	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	PIK3CG_uc003vdu.3_Missense_Mutation_p.E581K|PIK3CG_uc003vdw.3_Missense_Mutation_p.E581K	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	581					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TTTTAGATACGAAAGCCTTAA	0.453000														71			39		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179497405	179497405	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179497405C>T	uc021vsy.1	-	183	35849	c.35624G>A	c.(35623-35625)gGa>gAa	p.G11875E	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G5570E|TTN_uc021vta.1_Missense_Mutation_p.G5503E|TTN_uc021vtb.1_Missense_Mutation_p.G5378E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12802	Glu-rich.|Pro-rich.						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)			TTCCTGGGTTCCTTTTAGCCA	0.418000														144			55		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89914988	89914988	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89914988C>T	uc003kju.3	+	3	539	c.443C>T	c.(442-444)tCa>tTa	p.S148L	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	148					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAATTATTTCATTTAATATG	0.289000														10			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593736	179593736	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179593736C>T	uc021vsy.1	-	61	15522	c.15297G>A	c.(15295-15297)gtG>gtA	p.V5099V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V1760V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6026	Ig-like 31.						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)			CCACACTGTCCACAAATGAAA	0.423000														25			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140216077	140216077	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140216077C>T	uc003lhq.2	+	0	2109	c.2109C>T	c.(2107-2109)gcC>gcT	p.A703A	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_uc011dac.2_Silent_p.A703A	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	711					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)			TGATCATCGCCATCTGCGCGG	0.612000														135			13		0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	751015	751015	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:751015G>A	uc003siu.2	-	1	261	c.128C>T	c.(127-129)cCc>cTc	p.P43L	PRKAR1B_uc021zyi.1_Missense_Mutation_p.P43L|PRKAR1B_uc003siv.3_Missense_Mutation_p.P43L|PRKAR1B_uc021zyj.1_Missense_Mutation_p.P43L|PRKAR1B_uc021zyk.1_Missense_Mutation_p.P43L|PRKAR1B_uc003siw.2_Missense_Mutation_p.P43L	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	43	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|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GGGGCGTTCGGGCTTGGAGAT	0.632000														61			20		0	0	1	0	0
G6PC2	57818	broad.mit.edu	37	2	169759040	169759040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169759040C>T	uc002uem.3	+	1	396	c.304C>T	c.(304-306)Cct>Tct	p.P102S	G6PC2_uc002uen.3_Missense_Mutation_p.P102S|G6PC2_uc010fpv.3_Intron	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic, 2 (G6PC2), transcript variant 1, mRNA.	102					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TGAACAGTTCCCTACTACATG	0.403000														74			40		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166172174	166172174	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166172174C>T	uc002udc.3	+	10	1867	c.1577C>T	c.(1576-1578)tCg>tTg	p.S526L	SCN2A_uc002udd.3_Missense_Mutation_p.S526L|SCN2A_uc002ude.3_Missense_Mutation_p.S526L	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	526					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTCCGAAAATCGGAATCTGAA	0.373000														89			32		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389397	4389397	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4389397C>T	uc010qye.2	-	0	220	c.129G>A	c.(127-129)ggG>ggA	p.G43G		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G43W(2)|p.L42F(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGGCTGTTCCCAAGAAGGG	0.527000														29			11		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16701712	16701712	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:16701712G>A	uc010cpj.1	+	17		c.4243G>A			USP32P1_uc010cpk.1_Non-coding_Transcript|USP32P1_uc010vwq.1_Non-coding_Transcript|USP32P1_uc002gqm.2_Non-coding_Transcript			A2RUR9	C144A_HUMAN	Homo sapiens ubiquitin specific peptidase 32 pseudogene 1 (USP32P1), non-coding RNA.																		CCAGGGGGATGAGCTCTCCAA	0.522000														45			22		0	0	1	0	0
NAT16	375607	broad.mit.edu	37	7	100817986	100817986	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100817986C>T	uc003uxy.2	-	1	342	c.103G>A	c.(103-105)Gag>Aag	p.E35K	NAT16_uc003uxz.2_Missense_Mutation_p.E35K|NAT16_uc003uya.1_Missense_Mutation_p.E35K|NAT16_uc003uyb.1_Missense_Mutation_p.E35K	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	Homo sapiens N-acetyltransferase 16 (GCN5-related, putative) (NAT16), mRNA.	35							N-acetyltransferase activity	p.E35K(1)									GCCTCCACCTCCTGTGGCCGG	0.637000														90			32		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278088	152278088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152278088C>T	uc001ezu.1	-	2	9310	c.9274G>A	c.(9274-9276)Gag>Aag	p.E3092K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3092	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGCCTGCTCATGGCGGGAT	0.577000									Ichthyosis					263			97		0	0	1	0	0
C20orf151	140893	broad.mit.edu	37	20	60991260	60991260	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:60991260C>T	uc002ycw.2	-	5	543	c.346G>A	c.(346-348)Gag>Aag	p.E116K		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	116										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)			TTCAAGGTCTCGTTCTCTTCC	0.637000														34			7		0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365806	13365806	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:13365806G>A	uc003nat.2	-	1	1089	c.342C>T	c.(340-342)ctC>ctT	p.L114L	GFOD1_uc021ylt.1_Silent_p.L11L|GFOD1_uc003nas.2_Silent_p.L11L	NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.	114						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TGATGCTCATGAGCTTGGGGT	0.652000														114			49		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189855065	189855065	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189855065C>T	uc002uqj.1	+	9	894	c.777C>T	c.(775-777)ttC>ttT	p.F259F	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	259	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TACCTGGATTCCCTGGTATGA	0.348000														30			15		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84473122	84473122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84473122C>T	uc010chj.3	+	12	1290	c.1201C>T	c.(1201-1203)Cgt>Tgt	p.R401C	ATP2C2_uc002fhx.3_Missense_Mutation_p.R401C|ATP2C2_uc002fhy.3_Missense_Mutation_p.R418C|ATP2C2_uc002fhz.3_Missense_Mutation_p.R250C	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	401					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGATGGGCTTCGTGCCGAGGT	0.493000														108			49		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131412	72131412	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:72131412C>T	uc004ahh.2	-	1	991	c.715G>A	c.(715-717)Gac>Aac	p.D239N		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	239	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GAGCGCTCGTCGTAATGGTGC	0.716000														17			11		0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117885049	117885050	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:117885049_117885050CC>TT	uc001lcj.3	-	5	1150_1151	c.452_453GG>AA	c.(451-453)ggg>gAA	p.G151E	GFRA1_uc001lci.3_Missense_Mutation_p.G146E|GFRA1_uc009xyr.3_Missense_Mutation_p.G146E	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	151					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GGCAGTTGTTCCCTTTGGGAAT	0.540000														14			6		0	0	1	0	0
NOL9	79707	broad.mit.edu	37	1	6610651	6610651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6610651G>A	uc001ans.3	-	1	517	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	NOL9_uc010nzs.2_Non-coding_Transcript	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	Homo sapiens nucleolar protein 9 (NOL9), mRNA.	141					maturation of 5.8S rRNA	nucleolus	ATP binding|RNA binding|polynucleotide 5'-hydroxyl-kinase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGTCACACGACAGATCCCA	0.413000														58			21		0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23250889	23250889	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:23250889C>T	uc001irm.4	+	6	697	c.614C>T	c.(613-615)cCa>cTa	p.P205L	ARMC3_uc010qcv.2_Missense_Mutation_p.P205L|ARMC3_uc010qcw.2_Intron	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	205							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCAGAATATCCAGTGATTCAG	0.373000														38			15		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370122	240370122	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240370122G>A	uc010pye.2	+	5	2247	c.2022G>A	c.(2020-2022)gaG>gaA	p.E674E	FMN2_uc010pyd.2_Silent_p.E670E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	670					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGAAGTCTGAGGGACAGGCCA	0.423000														51			15		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181620505	181620505	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181620505G>A	uc009wxt.3	+	6	1178	c.983G>A	c.(982-984)tGg>tAg	p.W328*	CACNA1E_uc001gow.3_Nonsense_Mutation_p.W328*|CACNA1E_uc009wxs.3_Nonsense_Mutation_p.W328*|CACNA1E_uc009wxr.3_Nonsense_Mutation_p.W235*	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	328					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.W328L(2)		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						ACCTGGAATTGGCTGTACTTC	0.428000														84			28		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104031898	104031898	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:104031898G>A	uc001tjw.3	+	7	1000	c.814G>A	c.(814-816)Ggc>Agc	p.G272S		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	272	EGF-like 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCGTGGGGATGGCCAAGTGTG	0.498000														67			39		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19765374	19765374	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19765374G>A	uc002nnh.4	-	12	1819	c.1791C>T	c.(1789-1791)gcC>gcT	p.A597A	ATP13A1_uc002nne.3_5'Flank|ATP13A1_uc002nnf.4_5'UTR|ATP13A1_uc002nng.3_Silent_p.A479A	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	597					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.T596A(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TCCAGTCCACGGCCGTCAGCA	0.672000														32			14		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121016411	121016411	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121016411C>T	uc010rzo.2	+	10	3691	c.3691C>T	c.(3691-3693)Cgg>Tgg	p.R1231W		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1231	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CACAGTCCCTCGGAGCATGCA	0.507000														52			30		0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74883533	74883533	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:74883533C>T	uc001owb.3	+	6	1286	c.891C>T	c.(889-891)ttC>ttT	p.F297F	SLCO2B1_uc010rrq.2_Silent_p.F42F|SLCO2B1_uc010rrr.2_Silent_p.F153F|SLCO2B1_uc010rrs.2_Silent_p.F181F|SLCO2B1_uc001owc.3_Silent_p.F70F|SLCO2B1_uc001owd.3_Silent_p.F275F	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	297					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	ACTTCTTCTTCCCCAAGGAAA	0.577000														78			39		0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120530855	120530855	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:120530855G>A	uc001txl.1	+	8	1637	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	CCDC64_uc009zwv.1_Non-coding_Transcript|CCDC64_uc010sze.1_Missense_Mutation_p.E209K|CCDC64_uc010szf.1_Missense_Mutation_p.E235K	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA.	538					Golgi to secretory granule transport|neuron projection development	centrosome	Rab GTPase binding|dynactin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACCTGAAAGAACGGAGCCA	0.622000														66			18		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719696	140719696	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140719696C>T	uc003ljk.2	+	0	1343	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.L386L	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	389	Cadherin 4.				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)			CCTGTTCACTCCCCGAGGATC	0.433000														92			40		0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735935	41735935	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:41735935C>T	uc003azw.3	+	9	1148	c.932C>T	c.(931-933)cCt>cTt	p.P311L		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	327					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GGCTCCATCCCTGTCTCCAGC	0.692000														57			37		0	0	1	0	0
PRKAB2	5565	broad.mit.edu	37	1	146634146	146634146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:146634146G>A	uc001epe.3	-	5	690	c.545C>T	c.(544-546)tCc>tTc	p.S182F	PRKAB2_uc010ozm.2_Missense_Mutation_p.S100F|PRKAB2_uc010ozn.2_Missense_Mutation_p.P60S|PRKAB2_uc009wjf.1_Missense_Mutation_p.S182F	NM_005399	NP_005390	O43741	AAKB2_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 2 non-catalytic subunit (PRKAB2), mRNA.	182					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	GGGTGAGCTGGAAAGGTCTGA	0.393000														37			7		0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169863233	169863233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:169863233G>A	uc003fgl.2	-	5	684	c.650C>T	c.(649-651)tCc>tTc	p.S217F	PHC3_uc010hws.1_Missense_Mutation_p.S205F|PHC3_uc011bpq.1_Missense_Mutation_p.S164F|PHC3_uc011bpr.1_Intron|PHC3_uc003fgm.2_Missense_Mutation_p.S217F	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	205	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AGACTGACAGGAAGATGACGA	0.433000														50			13		0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36253876	36253876	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:36253876C>T	uc011cow.2	-	12	1608	c.1115G>A	c.(1114-1116)gGc>gAc	p.G372D	RANBP3L_uc003jkh.3_Missense_Mutation_p.G347D	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	347	RanBD1.				intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CCTTAGACTGCCTTGATTGCG	0.393000														76			29		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100334587	100334587	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100334587C>T	uc003uwj.3	+	4	574	c.409C>T	c.(409-411)Ctc>Ttc	p.L137F	ZAN_uc003uwk.3_Missense_Mutation_p.L137F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	137	MAM 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGCTGCTGCTCTCGGGTGA	0.652000														10			4		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76739023	76739023	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:76739023C>T	uc001jwn.1	+	9	2650	c.2157C>T	c.(2155-2157)taC>taT	p.Y719Y	KAT6B_uc001jwm.1_Silent_p.Y427Y|KAT6B_uc001jwo.1_Silent_p.Y427Y|KAT6B_uc001jwp.1_Silent_p.Y536Y	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	719	Catalytic.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GTGGCCGGTACCCTTCTGTGA	0.388000														56			20		0	0	1	0	0
UBXN10	127733	broad.mit.edu	37	1	20517739	20517739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:20517739G>A	uc001bdb.3	+	1	769	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	UBXN10_uc021oia.1_Missense_Mutation_p.E229K	NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	Homo sapiens UBX domain protein 10 (UBXN10), mRNA.	229	UBX.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						TGCTGTGGCCGAACAGAAAAA	0.488000														76			38		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43505518	43505518	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43505518C>T	uc002zag.1	+	3	599	c.599C>T	c.(598-600)tCc>tTc	p.S200F	UMODL1_uc002zad.1_Missense_Mutation_p.S128F|UMODL1_uc002zae.1_Missense_Mutation_p.S128F|UMODL1_uc002zaf.1_Missense_Mutation_p.S200F|UMODL1_uc010gow.1_5'UTR|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_5'UTR	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	200						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTTCTGCATTCCTTGGTAGGT	0.607000														177			33		0	0	1	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34043182	34043182	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:34043182G>A	uc003jio.3	-	0	190	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	C1QTNF3_uc003jin.3_Missense_Mutation_p.L17F	NM_181435	NP_852100	Q9BXJ4	C1QT3_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 3 (C1QTNF3), transcript variant 2, mRNA.	0						collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CAAAAAGGGAGGAAAAACAAA	0.493000														160			54		0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32232418	32232418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:32232418C>T	uc002wzg.1	+	11	2318	c.1781C>T	c.(1780-1782)gCt>gTt	p.A594V	CBFA2T2_uc010zug.1_Missense_Mutation_p.A368V|CBFA2T2_uc002wze.1_Missense_Mutation_p.A585V|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.A565V|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript|CBFA2T2_uc002wzk.1_Missense_Mutation_p.A142V	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	594						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TCAACACCTGCTTCTGTGACA	0.627000														139			28		0	0	1	0	0
SLC2A11	66035	broad.mit.edu	37	22	24226910	24226910	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:24226910C>T	uc011ajc.1	+	10	1875	c.1385C>T	c.(1384-1386)tCc>tTc	p.S462F	SLC2A11_uc002zym.4_Silent_p.F462F|SLC2A11_uc002zyn.4_Silent_p.F455F|SLC2A11_uc002zyo.4_Non-coding_Transcript|SLC2A11_uc002zyp.4_Silent_p.F458F			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	0						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CTGGCCTGTTCCTTCCTGAGA	0.562000														144			51		0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104508525	104508525	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:104508525G>A	uc001yom.4	+	34	4004	c.3974_splice	c.e34+1	p.G1325_splice	TDRD9_uc001yon.4_Splice_Site_p.G872_splice	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	1325					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AGCTTTTAGGGTAAGCTGTGT	0.463000														34			20		0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155643132	155643132	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:155643132C>T	uc003faq.3	+	11	1872	c.1537C>T	c.(1537-1539)Cca>Tca	p.P513S	GMPS_uc011bom.2_Missense_Mutation_p.P414S	NM_003875	NP_003866	P49915	GUAA_HUMAN	Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.	513					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTCTTGCTGCCAATTAAAAC	0.403000			T	MLL	AML									21			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179575645	179575645	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179575645C>T	uc021vsy.1	-	94	24672	c.24447G>A	c.(24445-24447)ggG>ggA	p.G8149G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G4810G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9076	Ig-like 64.						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)			GTGGGTTCTTCCCCTCTAATA	0.453000														58			24		0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22790820	22790820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:22790820G>A	uc002yld.2	+	10	1660	c.1411G>A	c.(1411-1413)Gga>Aga	p.G471R	NCAM2_uc011acb.2_Missense_Mutation_p.G329R	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	471	Ig-like C2-type 5.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CAATGACTTTGGACGCTATAA	0.318000														162			19		0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31013635	31013635	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:31013635C>T	uc003tbx.3	+	6	681	c.633C>T	c.(631-633)ttC>ttT	p.F211F	GHRHR_uc003tby.3_Silent_p.F147F|GHRHR_uc003tbz.3_Intron	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	211					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	p.H210N(1)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CCTCCCATTTCGCCACCATGA	0.627000														78			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086464	9086464	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9086464G>A	uc002mkp.3	-	0	5555	c.5351C>T	c.(5350-5352)tCt>tTt	p.S1784F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1784	Ser-rich.|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						CCTTGCTGAAGACTTGGAGAT	0.468000														47			25		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35793034	35793034	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35793034C>T	uc003zyd.3	+	0	629	c.629C>T	c.(628-630)cCc>cTc	p.P210L	NPR2_uc010mlb.3_Missense_Mutation_p.P210L	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	210					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CCAGGGGGCCCCGAGCAGGCC	0.637000														35			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179457165	179457165	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179457165G>A	uc021vsy.1	-	249	52088	c.51863C>T	c.(51862-51864)tCt>tTt	p.S17288F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S10983F|TTN_uc021vta.1_Missense_Mutation_p.S10916F|TTN_uc021vtb.1_Missense_Mutation_p.S10791F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18215	Fibronectin type-III 25.						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)			CACTGTTAAAGAATAAATTCC	0.358000														207			47		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57069596	57069596	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57069596G>A	uc001njr.3	-	6	5098	c.4786C>T	c.(4786-4788)Ctg>Ttg	p.L1596L	TNKS1BP1_uc001njq.3_Silent_p.L169L|TNKS1BP1_uc001njs.3_Silent_p.L1596L	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1596	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCCTCCGACAGGCCCAAGGTA	0.597000														86			35		0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15843396	15843396	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:15843396C>T	uc002wou.3	+	8	916	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	MACROD2_uc002wot.3_Missense_Mutation_p.R218W|MACROD2_uc002woz.3_5'UTR|MACROD2_uc002wpb.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	218	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTAGGTGGATCGGATCATTTT	0.368000														43			11		0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97920070	97920070	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:97920070C>T	uc001klp.3	+	5	4848	c.3991C>T	c.(3991-3993)Cct>Tct	p.P1331S	ZNF518A_uc001klo.1_Missense_Mutation_p.P801S|ZNF518A_uc001klq.3_Missense_Mutation_p.P1331S|ZNF518A_uc001klr.3_Missense_Mutation_p.P1331S	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	1331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GCGGCTTTTCCCTTTTAGTTC	0.393000														54			27		0	0	1	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066852	46066852	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46066852C>T	uc002zfr.4	+	0	522	c.477C>T	c.(475-477)tcC>tcT	p.S159S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	153	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						GCTGTGTGTCCACCTGCTCTG	0.637000														225			57		0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69387775	69387775	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:69387775G>A	uc001xkl.3	-	2	598	c.288C>T	c.(286-288)gcC>gcT	p.A96A	ACTN1_uc010ttb.2_Silent_p.A31A|ACTN1_uc001xkm.3_Silent_p.A96A|ACTN1_uc001xkn.3_Silent_p.A96A|ACTN1_uc001xko.1_Silent_p.A31A|ACTN1_uc010ttd.1_Silent_p.A75A	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	96	Actin-binding.|CH 1.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGAAATCCAGGGCCTTGTTGA	0.547000														100			30		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189706735	189706735	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:189706735G>A	uc011bsk.2	-	3	1304	c.916C>T	c.(916-918)Cct>Tct	p.P306S	LEPREL1_uc003fsg.3_Missense_Mutation_p.P125S	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	306					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TAGTGCAGAGGAAGAAAATTC	0.493000														92			44		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7673059	7673059	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7673059C>T	uc002mgu.4	+	6	851	c.750C>T	c.(748-750)ttC>ttT	p.F250F	CAMSAP3_uc002mgv.4_Silent_p.F223F	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	223	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCCCCTGCTTCCCGACGGTGA	0.667000														66			23		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61848064	61848064	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61848064C>T	uc001jky.3	-	28	3719	c.3381G>A	c.(3379-3381)acG>acA	p.T1127T	ANK3_uc001jkw.3_Silent_p.T261T|ANK3_uc009xpa.3_Silent_p.T261T|ANK3_uc001jkx.3_Silent_p.T305T|ANK3_uc010qih.2_Silent_p.T1128T|ANK3_uc001jkz.4_Silent_p.T1121T|ANK3_uc001jla.1_Silent_p.T193T|ANK3_uc001jlb.1_Silent_p.T645T	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1127					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						GGAAATCTTTCGTGATAATCC	0.438000														98			29		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201507489	201507489	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:201507489G>A	uc002uvx.3	+	24	2913	c.2812G>A	c.(2812-2814)Gaa>Aaa	p.E938K	AOX1_uc010zhf.2_Missense_Mutation_p.E494K|AOX1_uc010fsu.3_Missense_Mutation_p.E304K	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	938					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity	p.T937M(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTGTATCACGGAAGTTGCAGC	0.512000														98			7		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28736065	28736065	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28736065G>A	uc002kwn.3	-	3	674	c.412C>T	c.(412-414)Cct>Tct	p.P138S	DSC1_uc002kwm.3_Missense_Mutation_p.P138S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	138	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCTGGAATAGGAGCCCATCGT	0.408000														75			43		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145110780	145110780	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145110780G>A	uc003zar.3	-	15	2241	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	720							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GGCCCCCACGGAGATGCAGAT	0.647000														12			3		0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37363342	37363342	+	Missense_Mutation	SNP	C	T	T	rs113898889		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:37363342C>T	uc003cgv.3	+	12	2026	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	GOLGA4_uc010hgr.2_Missense_Mutation_p.R117W|GOLGA4_uc003cgw.3_Missense_Mutation_p.R578W|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.R437W	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	556	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.R556W(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAATAAACTTCGGGACCTTCA	0.348000														60			33		0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206320265	206320265	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:206320265C>T	uc001hdu.3	+	3	526	c.408C>T	c.(406-408)tcC>tcT	p.S136S	CTSE_uc001hdv.3_Silent_p.S136S|CTSE_uc010prs.2_Silent_p.S61S	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	136					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			AATCTTTCTCCATTCAGTATG	0.517000														65			26		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327956	57327956	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57327956C>T	uc002qnu.2	-	6	2205	c.1854G>A	c.(1852-1854)caG>caA	p.Q618Q	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.Q589Q|PEG3_uc002qnv.2_Silent_p.Q618Q|PEG3_uc002qnw.2_Silent_p.Q494Q|PEG3_uc002qnx.2_Silent_p.Q492Q|PEG3_uc010etr.2_Silent_p.Q618Q	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	618					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CATACATTTTCTGAAACTCAT	0.443000														38			15		0	0	1	0	0
PSME2	5721	broad.mit.edu	37	14	24613611	24613611	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24613611G>A	uc001wmj.3	-	6	492	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	FAM158A_uc001wmi.3_5'Flank|RNF31_uc001wml.1_5'Flank	NM_002818	NP_002809	Q9UL46	PSME2_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 2 (PA28 beta) (PSME2), mRNA.	143					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		TTTCTTACCTGGATTGCTACC	0.438000														108			10		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83933329	83933329	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83933329C>T	uc002bjt.1	-	3	762	c.674G>A	c.(673-675)gGa>gAa	p.G225E	BNC1_uc010uos.1_Missense_Mutation_p.G213E	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	225					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GCTGGGGTTTCCTTTGTCCAC	0.498000														153			51		0	0	1	0	0
ANKRD7	56311	broad.mit.edu	37	7	117876926	117876926	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:117876926G>A	uc003vji.3	+	4	831	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.	220					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						ATTATGTTACGAAGGTATTGT	0.393000														210			73		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127638767	127638767	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:127638767C>T	uc003kuu.3	-	45	6254	c.5815G>A	c.(5815-5817)Gag>Aag	p.E1939K		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1939	EGF-like 32; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGATGCCGCTCGCACTCATCA	0.348000														96			27		0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7100082	7100082	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7100082G>A	uc010vtn.2	-	7	1157	c.897C>T	c.(895-897)atC>atT	p.I299I	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Silent_p.I356I|DLG4_uc002get.4_Silent_p.I402I|DLG4_uc010vto.2_Silent_p.I399I	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	359					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TCACCGACAGGATCTGGTCCC	0.667000														4			5		0	0	1	0	0
CHAD	1101	broad.mit.edu	37	17	48545818	48545818	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48545818G>A	uc010dbr.3	-	0	410	c.357C>T	c.(355-357)ttC>ttT	p.F119F	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.3_Silent_p.F119F|ACSF2_uc010dbt.1_Intron	NM_001267	NP_001258	O15335	CHAD_HUMAN	Homo sapiens chondroadherin (CHAD), mRNA.	119					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCAGGTCGTCGAAGGCACCTG	0.617000														83			8		0	0	1	0	0
SNX8	29886	broad.mit.edu	37	7	2297430	2297430	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:2297430C>T	uc003slw.3	-	7	967	c.924G>A	c.(922-924)caG>caA	p.Q308Q		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	Homo sapiens sorting nexin 8 (SNX8), mRNA.	308					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	p.Q308H(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CGTTCTCTTCCTGCTTACCCT	0.612000														171			67		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140764587	140764587	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140764587C>T	uc003lka.2	+	0	2121	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lkb.4_5'Flank|PCDHGC5_uc003lkc.2_5'Flank|PCDHGC5_uc003ljz.1_Silent_p.F707F	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	702					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)			TCCTAGCCTTCGTCCTCGTAC	0.627000														69			28		0	0	1	0	0
C3orf67	200844	broad.mit.edu	37	3	58855057	58855057	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58855057G>A	uc003dkt.1	-	8	1046	c.637C>T	c.(637-639)Cat>Tat	p.H213Y	C3orf67_uc003dks.1_Missense_Mutation_p.H28Y|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.H28Y|C3orf67_uc003dkw.3_Missense_Mutation_p.H121Y	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	213										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTCTTACCATGAATAGGTACA	0.328000														70			17		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540813	28540813	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28540813C>T	uc003nlo.3	-	3	3471	c.2853G>A	c.(2851-2853)aaG>aaA	p.K951K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	951					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						caatataattctttacagctt	0.343000														34			13		0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66641931	66641931	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:66641931G>A	uc001sth.3	+	11	1873	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	IRAK3_uc010ssy.2_Missense_Mutation_p.E530K	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	591					MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GGATGAATATGAACAGTACAA	0.418000														54			26		0	0	1	0	0
DHDH	27294	broad.mit.edu	37	19	49438278	49438278	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49438278G>A	uc002ple.1	+	1	152	c.112G>A	c.(112-114)Gat>Aat	p.D38N		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	Homo sapiens dihydrodiol dehydrogenase (dimeric) (DHDH), mRNA.	38					carbohydrate metabolic process		D-xylose 1-dehydrogenase (NADP+) activity|NAD(P)+ transhydrogenase activity|binding|electron carrier activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GGCGGCCCGCGATCTGAGCCG	0.637000														10			4		0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69419661	69419661	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:69419661G>A	uc004dxx.1	+	3	294	c.197_splice	c.e3-1	p.G66_splice		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	66					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TGTACCCACAGGTGGCAGGCG	0.552000														15			13		0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69264178	69264178	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:69264178C>T	uc001sup.3	-	5	493	c.432_splice	c.e5-1	p.R144_splice	CPM_uc001sur.3_Splice_Site_p.R144_splice|CPM_uc001suq.3_Splice_Site_p.R144_splice	NM_198320	NP_938079	P14384	CBPM_HUMAN	Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA.	144					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTATAATTTTCCCTTTAAAAG	0.403000														46			13		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202291	56202291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:56202291C>T	uc002lhj.4	-	4	5342	c.5128G>A	c.(5128-5130)Gag>Aag	p.E1710K	ALPK2_uc002lhk.1_Missense_Mutation_p.E1041K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1710							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTCTTGACCTCCTCTGACCCC	0.567000														117			38		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566226	5566226	+	Silent	SNP	G	A	A	rs35658346		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5566226G>A	uc010qzh.2	-	0	528	c.528C>T	c.(526-528)ttC>ttT	p.F176F	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGTCCTGCAGAAAGGCAGGC	0.493000														42			20		0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56737280	56737280	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56737280G>A	uc001slc.3	-	23	2652	c.2449C>T	c.(2449-2451)Ccg>Tcg	p.P817S	STAT2_uc001slb.3_Missense_Mutation_p.P359S|STAT2_uc001sld.3_Missense_Mutation_p.P813S	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	817					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.P817P(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TCACCATTCGGCATGATTTCT	0.507000														42			26		0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49656793	49656793	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49656793C>T	uc002pmv.3	-	0	1889	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	568					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		tcttcctcctcGCTGTGGTCT	0.622000														12			10		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103294550	103294550	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:103294550G>A	uc022ajr.1	-	12	1704	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	RELN_uc022ajq.1_Missense_Mutation_p.S515F|RELN_uc010liz.3_Missense_Mutation_p.S515F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	515					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)		CTTATATGAGGAATAGGAAAG	0.428000														64			23		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495547	71495547	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:71495547C>T	uc003kbw.4	+	4	6606	c.6365C>T	c.(6364-6366)cCc>cTc	p.P2122L	MAP1B_uc010iyw.1_Missense_Mutation_p.P2139L|MAP1B_uc010iyx.1_Missense_Mutation_p.P1996L|MAP1B_uc010iyy.1_Missense_Mutation_p.P1996L	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	2122						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCTGAAAAGCCCCTCACTCAA	0.542000														129			58		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9028347	9028347	+	Missense_Mutation	SNP	G	A	A	rs150243586	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9028347G>A	uc002mkp.3	-	10	36649	c.36445C>T	c.(36445-36447)Cgc>Tgc	p.R12149C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12151	SEA 1.				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						GGGTCAGGGCGATGTGTGCAG	0.557000														120			48		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50962182	50962182	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50962182C>T	uc002psf.2	+	21	2565	c.2514C>T	c.(2512-2514)ccC>ccT	p.P838P		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	838	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CAGAGCCACCCAAGATCCGGC	0.667000														17			3		0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44418361	44418361	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44418361G>A	uc002oxu.2	-	3	1326	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G	ZNF45_uc002oxw.2_Silent_p.G409G	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	Homo sapiens zinc finger protein 45 (ZNF45), mRNA.	409					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G409G(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CTCCAGTATGGCCTCTTTGAT	0.478000														101			33		0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71068536	71068536	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71068536G>A	uc003hfc.3	+	8	729	c.712G>A	c.(712-714)Gga>Aga	p.G238R		NM_017855	NP_060325	A1E959	ODAM_HUMAN	Homo sapiens odontogenic, ameloblast asssociated (ODAM), mRNA.	238					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TGACAGTGCAGGAGTTTTCAT	0.413000														78			24		0	0	1	0	0
IPW	3653	broad.mit.edu	37	15	25419959	25419959	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:25419959G>A	uc001yyp.1	+	7		c.574_splice	c.e7-1		IPW_uc001yys.1_Splice_Site|SNORD115-3_uc001yyt.1_5'Flank|SNORD115-4_uc001yyu.1_5'Flank					Homo sapiens imprinted in Prader-Willi syndrome (non-protein coding) (IPW), non-coding RNA.																		ggcttcagcaggtccctccgt	0.478000														59			26		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256043	140256043	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140256043C>T	uc003lic.2	+	0	1113	c.986C>T	c.(985-987)tCc>tTc	p.S329F	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.S329F	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	344	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGATTCCTTCCATGGCAGGT	0.433000														67			27		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181764162	181764162	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181764162C>T	uc009wxt.3	+	45	6385	c.6190C>T	c.(6190-6192)Cgc>Tgc	p.R2064C	CACNA1E_uc001gow.3_Missense_Mutation_p.R2021C|CACNA1E_uc009wxs.3_Missense_Mutation_p.R2002C	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2064					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						GTCAGCCCACCGCCTGAACTC	0.547000														35			12		0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16475029	16475031	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16475029_16475031GG>AA	uc001aya.2	-	2	820_822	c.665_667CC>TT	c.(664-669)tccctg>tTTtg	p.222_223SL>F	EPHA2_uc010oca.2_Missense_Mutation_p.222_223SL>F	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	222	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACAGTGGCCAGGGAAGGTGCATC	0.665000														55			7		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130286841	130286841	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:130286841C>T	uc001qgg.4	-	2	1448	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	364	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TTACCTAGTTCATGGGCCAGG	0.572000														166			75		0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154767930	154767930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:154767930G>A	uc022aqg.1	-	5	593	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C	PAXIP1_uc022aqf.1_Missense_Mutation_p.R184C|PAXIP1_uc022aqh.1_Missense_Mutation_p.R150C|PAXIP1_uc022aqi.1_Missense_Mutation_p.R148C|PAXIP1_uc003wlr.1_Missense_Mutation_p.R93C	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	Homo sapiens PAX interacting (with transcription-activation domain) protein 1 (PAXIP1), mRNA.	184					DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ATAATCAGACGAGGATGATAA	0.398000														38			8		0	0	1	0	0
IL7	3574	broad.mit.edu	37	8	79710412	79710412	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:79710412G>A	uc003ybg.3	-	1	643	c.42C>T	c.(40-42)ccC>ccT	p.P14P	IL7_uc022awh.1_Silent_p.P14P|IL7_uc022awi.1_Silent_p.P14P|IL7_uc022awj.1_Silent_p.P14P|IL7_uc003ybh.3_Non-coding_Transcript|IL7_uc003ybi.3_Non-coding_Transcript	NM_000880	NP_000871	P13232	IL7_HUMAN	Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA.	14					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						CAAGGATCAGGGGAGGAAGTC	0.353000														51			13		0	0	1	0	0
POPDC3	64208	broad.mit.edu	37	6	105609583	105609583	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:105609583C>T	uc003prb.3	-	1	604	c.202G>A	c.(202-204)Gct>Act	p.A68T	BVES-AS1_uc003pqz.3_Intron|POPDC3_uc003pra.3_Intron	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	Homo sapiens popeye domain containing 3 (POPDC3), transcript variant 1, mRNA.	68						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TCTACCCAAGCCCAGACAGCA	0.423000														55			45		0	0	1	0	0
MAPK13	5603	broad.mit.edu	37	6	36099123	36099123	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:36099123C>T	uc003ols.3	+	1	293	c.195C>T	c.(193-195)ttC>ttT	p.F65F	MAPK13_uc003olt.3_Non-coding_Transcript	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	65	Protein kinase.				Ras protein signal transduction|cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CCGAGATCTTCGCCAAGCGCG	0.662000														80			13		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10323457	10323457	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10323457G>A	uc002gmm.2	-	2	183	c.88C>T	c.(88-90)Caa>Taa	p.Q30*	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	30	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGCTTGTTTTGGGCCTCAATC	0.478000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					103			78		0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49639110	49639110	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49639110C>T	uc002pmr.3	+	13	1927	c.1595C>T	c.(1594-1596)cCc>cTc	p.P532L	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc010emt.3_Missense_Mutation_p.P456L|PPFIA3_uc010yaj.1_Non-coding_Transcript|PPFIA3_uc002pms.3_Missense_Mutation_p.P400L	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	532						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CACCTGGATCCCTATGTGGCT	0.627000														63			29		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052768	15052768	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15052768C>T	uc010xoc.2	+	0	468	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TCATGGGTTCCTTGCTTGAGA	0.522000														172			78		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50947861	50947861	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50947861G>A	uc009xog.3	-	15	2280	c.2246C>T	c.(2245-2247)gCc>gTc	p.A749V	OGDHL_uc001jie.3_Missense_Mutation_p.A722V|OGDHL_uc010qgt.2_Missense_Mutation_p.A665V|OGDHL_uc010qgu.2_Missense_Mutation_p.A513V	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	722					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ATTGGGGCTGGCCATGGCATA	0.562000														37			17		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97078893	97078893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:97078893C>T	uc021rcc.1	+	8	1244	c.1166C>T	c.(1165-1167)tCa>tTa	p.S389L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	389										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTTGGCCCCTCACTCACCAAT	0.468000														40			16		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113105810	113105810	+	Silent	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113105810C>G	uc021qqp.1	+	14	2193	c.1821C>G	c.(1819-1821)gcC>gcG	p.A607A	NCAM1_uc001pnp.3_Silent_p.A571A|NCAM1_uc021qqo.1_Silent_p.A571A|NCAM1_uc001pnq.3_Silent_p.A581A|NCAM1_uc001pnr.3_Silent_p.A571A	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	583					axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAACGTACGCCGTAAGGCTGG	0.552000														11			6		0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133650208	133650208	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133650208G>A	uc003ytk.3	-	3	476	c.402C>T	c.(400-402)ttC>ttT	p.F134F	LRRC6_uc022bbp.1_Silent_p.F134F|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	134	LRRCT.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTGCTACCACGAACTCCCTAT	0.418000														68			18		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756444	94756444	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94756444C>T	uc001yct.3	-	1	953	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	SERPINA10_uc001ycu.4_Missense_Mutation_p.G163R	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.	163					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)		GCAAAACTCCCCTGTGTGAGG	0.507000														82			34		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289451	107289451	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107289451G>A	uc011lvn.2	-	0	40	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AGTCCCAGAAGAATGAATTCT	0.398000														100			10		0	0	1	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242742894	242742894	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242742894C>T	uc002wcj.1	+	3	641	c.510C>T	c.(508-510)ttC>ttT	p.F170F		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA.	170					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGGACGCGTTCCTGGCCTCGC	0.627000														15			7		0	0	1	0	0
C15orf33	196951	broad.mit.edu	37	15	49800440	49800440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:49800440C>T	uc001zxl.2	-	10	1274	c.980G>A	c.(979-981)aGa>aAa	p.R327K	C15orf33_uc001zxm.3_Missense_Mutation_p.R293K	NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	327										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		GTCTGCAATTCTTTCCTTTAC	0.348000														123			8		0	0	1	0	0
URM1	81605	broad.mit.edu	37	9	131151740	131151740	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131151740C>T	uc011may.1	+	3	451	c.389C>T	c.(388-390)cCa>cTa	p.P130L	URM1_uc004buv.2_Intron	NM_001135947	NP_001129419	Q9BTM9	URM1_HUMAN	Homo sapiens ubiquitin related modifier 1 (URM1), transcript variant 2, mRNA.	0					tRNA thio-modification|tRNA wobble uridine modification		protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						TCTCCCACTCCAGGTGAGGAA	0.562000														5			7		0	0	1	0	0
MYL2	4633	broad.mit.edu	37	12	111353546	111353546	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:111353546C>T	uc001try.4	-	2	213	c.142G>A	c.(142-144)Gat>Aat	p.D48N	MYL2_uc001trx.4_Missense_Mutation_p.D29N	NM_000432	NP_000423	P10916	MLRV_HUMAN	Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA.	48	EF-hand 1.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	p.D48Y(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						TCTCTCAGATCGTTCTTGTCA	0.527000														128			59		0	0	1	0	0
XRRA1	143570	broad.mit.edu	37	11	74559185	74559185	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:74559185C>T	uc009yub.3	-	14	2011	c.1679G>A	c.(1678-1680)aGc>aAc	p.S560N	XRRA1_uc001ovm.2_Non-coding_Transcript|XRRA1_uc001ovn.3_Missense_Mutation_p.S183N|XRRA1_uc001ovo.3_Missense_Mutation_p.S168N|XRRA1_uc001ovp.4_Missense_Mutation_p.S285N|XRRA1_uc001ovq.4_Missense_Mutation_p.S473N|XRRA1_uc001ovr.2_Missense_Mutation_p.S183N|XRRA1_uc001ovs.1_Missense_Mutation_p.S162N	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	Homo sapiens X-ray radiation resistance associated 1 (XRRA1), mRNA.	560					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGACTCTGTGCTCTTGGAGTC	0.577000														29			7		0	0	1	0	0
MIPOL1	145282	broad.mit.edu	37	14	37969339	37969339	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:37969339C>T	uc001wud.3	+	13	1900	c.1258C>T	c.(1258-1260)Caa>Taa	p.Q420*	MIPOL1_uc010amr.2_Non-coding_Transcript|MIPOL1_uc001wub.4_Nonsense_Mutation_p.Q389*|MIPOL1_uc010ams.3_Nonsense_Mutation_p.Q420*|MIPOL1_uc001wuc.3_Nonsense_Mutation_p.Q420*|MIPOL1_uc001wue.3_Nonsense_Mutation_p.Q389*|MIPOL1_uc010amt.3_Nonsense_Mutation_p.Q239*	NM_001195297	NP_001182226	Q8TD10	MIPO1_HUMAN	Homo sapiens mirror-image polydactyly 1 (MIPOL1), transcript variant 2, mRNA.	420										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		TGAAAAAGTTCAAAAGTAAGT	0.358000														39			8		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55924936	55924936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55924936G>A	uc003pcs.3	-	27	2720	c.2488C>T	c.(2488-2490)Cct>Tct	p.P830S	COL21A1_uc010jzz.3_Missense_Mutation_p.P215S|COL21A1_uc011dxg.2_Missense_Mutation_p.P203S|COL21A1_uc011dxh.2_Intron|COL21A1_uc003pcr.3_Missense_Mutation_p.P187S	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	830	Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GGTGGCCCAGGAATACCCGGG	0.522000														36			14		0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214228839	214228839	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:214228839G>A	uc002veq.3	+	7	894	c.802G>A	c.(802-804)Gga>Aga	p.G268R	SPAG16_uc010fuz.2_Missense_Mutation_p.G119R|SPAG16_uc002ver.3_Missense_Mutation_p.G214R|SPAG16_uc010zjk.2_Missense_Mutation_p.G174R|SPAG16_uc002ves.1_Missense_Mutation_p.G237R	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	268					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ACTGCAAAGAGGACATAGTTA	0.284000														23			11		0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88201751	88201751	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:88201751G>A	uc011lte.2	-	20	3131	c.3064C>T	c.(3064-3066)Ccc>Tcc	p.P1022S	AGTPBP1_uc004aod.4_Missense_Mutation_p.P636S|AGTPBP1_uc011ltc.2_Intron|AGTPBP1_uc011ltd.2_Missense_Mutation_p.P1010S|AGTPBP1_uc010mqc.3_Missense_Mutation_p.P970S	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	1010					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CTTACCAAGGGTAAACGCTTC	0.373000														85			21		0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96952164	96952165	+	Missense_Mutation	DNP	GG	AA	AA	rs143175658		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:96952164_96952165GG>AA	uc002svu.3	-	28	4019_4020	c.3887_3888CC>TT	c.(3886-3888)ccc>cTT	p.P1296L	SNRNP200_uc002svt.3_5'Flank|SNRNP200_uc010yuj.2_5'Flank|SNRNP200_uc002svv.1_5'Flank	NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	1296						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CGGTTGGAGGGGGGTACTTCTC	0.500000														101			32		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120438859	120438859	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:120438859G>A	uc001eij.3	-	0	289	c.101C>T	c.(100-102)cCt>cTt	p.P34L		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	34					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CTCCCCTTCAGGGTGAAAAAT	0.512000														55			10		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262033	45262033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:45262033G>A	uc003jok.3	-	7	2688	c.2663C>T	c.(2662-2664)tCa>tTa	p.S888L		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	888						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCATAAATTTGAAGCAAATCG	0.438000														173			37		0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47569694	47569694	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:47569694G>A	uc002pga.4	-	14	3869	c.3831C>T	c.(3829-3831)gcC>gcT	p.A1277A	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	1277							nucleic acid binding|zinc ion binding	p.P1276P(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CACCCTCGCGGGCCGGACTGT	0.637000														1			5		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105010414	105010414	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:105010414C>T	uc003yls.3	+	16	2620	c.2379_splice	c.e16-1	p.S793_splice	RIMS2_uc003ylp.3_Intron|RIMS2_uc003ylw.2_Splice_Site_p.S807_splice|RIMS2_uc003ylq.3_Splice_Site_p.S807_splice|RIMS2_uc003ylr.3_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1077					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)			TGCTTGCAGTCATTTTCTTAC	0.338000										HNSCC(12;0.0054)				74			39		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48269226	48269226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48269226C>T	uc002iqm.3	-	30	2176	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	684	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACACCACGCTCGCCAGGGAAA	0.642000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							13			3		0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204490	9204490	+	Silent	SNP	G	A	A	rs139852545	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9204490G>A	uc010xkj.2	+	0	570	c.570G>A	c.(568-570)acG>acA	p.T190T		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T190M(1)|p.C189*(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TTTCGTGCACGGACACCTCTG	0.562000														108			48		0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628458	46628458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:46628458C>T	uc002inn.3	-	1	934	c.534G>A	c.(532-534)ggG>ggA	p.G178G	HOXB3_uc010wlm.2_Silent_p.G105G|HOXB3_uc010dbf.3_Silent_p.G178G|HOXB3_uc010dbg.3_Silent_p.G178G|HOXB3_uc002ino.3_Silent_p.G178G|HOXB3_uc010wlk.2_Silent_p.G46G|HOXB3_uc010wll.2_Silent_p.G105G	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	178	Gly-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGCTCTTGTCCCCTCCCccgc	0.756000														20			22		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31332622	31332622	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31332622G>A	uc002ebr.3	+	14	1869	c.1771G>A	c.(1771-1773)Ggc>Agc	p.G591S	ITGAM_uc002ebq.3_Missense_Mutation_p.G590S|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.3_5'UTR|ITGAM_uc002ebs.1_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	590					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ACTGAGTGGGGGCCAGGACCT	0.562000														140			35		0	0	1	0	0
LBX1	10660	broad.mit.edu	37	10	102987154	102987154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:102987154C>T	uc001ksx.3	-	1	864	c.719G>A	c.(718-720)gGc>gAc	p.G240D	FLJ41350_uc010qpy.2_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	Homo sapiens ladybird homeobox 1 (LBX1), mRNA.	240					muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		CTTCGGGGCGCCTGGGGGGAG	0.756000														19			7		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56954746	56954746	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56954746C>T	uc001njl.2	+	1	965	c.818C>T	c.(817-819)cCt>cTt	p.P273L		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	243						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGCCGGGGCCCTCCTGAAGTC	0.592000														127			37		0	0	1	0	0
FITM1	161247	broad.mit.edu	37	14	24600934	24600934	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24600934C>T	uc001wmf.2	+	0	260	c.162C>T	c.(160-162)cgC>cgT	p.R54R		NM_203402	NP_981947	A5D6W6	FITM1_HUMAN	Homo sapiens fat storage-inducing transmembrane protein 1 (FITM1), mRNA.	54					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane		p.R53P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GCTTACGGCGCCTCTACCATG	0.617000														58			22		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10782145	10782145	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10782145G>A	uc003wtk.1	-	2	988	c.961_splice	c.e2+1	p.C321_splice		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	321						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		ggcACTCACAGGGCAGGGTCT	0.692000														67			9		0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34278402	34278402	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34278402G>A	uc002xdw.2	-	4	571	c.494C>T	c.(493-495)tCa>tTa	p.S165L	NFS1_uc002xdt.2_Missense_Mutation_p.S105L|NFS1_uc010zvl.2_Intron|NFS1_uc010zvk.2_5'UTR	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	165					Mo-molybdopterin cofactor biosynthetic process|cysteine metabolic process|iron incorporation into metallo-sulfur cluster|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	AGCTTCCAGTGAACGGCAGGA	0.512000														201			96		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170092404	170092404	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170092404C>T	uc002ues.3	-	28	5079	c.4866G>A	c.(4864-4866)atG>atA	p.M1622I		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1622					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACAAAAGTCCATGTAATCAA	0.443000														77			34		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155959	151155959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151155959C>T	uc011bod.2	-	5	6390	c.6390G>A	c.(6388-6390)atG>atA	p.M2130I	IGSF10_uc011bob.2_Missense_Mutation_p.M157I|IGSF10_uc011boc.2_Missense_Mutation_p.M109I	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2130	Ig-like C2-type 7.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGGACCTTCATTTCATCTT	0.443000														49			14		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178556956	178556956	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178556956G>A	uc003mjw.3	-	15	2536	c.2434C>T	c.(2434-2436)Ctc>Ttc	p.L812F		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	812	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGCCGTGGAGGGGGCCCATG	0.657000														55			22		0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	144276933	144276933	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:144276933G>A	uc002tvm.4	+	10	1076	c.925_splice	c.e10+1	p.G309_splice	ARHGAP15_uc002tvn.3_Splice_Site_p.G75_splice	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	309	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	Rac GTPase activator activity|protein binding			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAGAAAAGAGGTGGGTGACT	0.453000														78			29		0	0	1	0	0
LIN9	286826	broad.mit.edu	37	1	226483628	226483628	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:226483628C>T	uc001hqa.2	-	3	537	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	LIN9_uc001hqb.2_Intron|LIN9_uc001hqc.3_Missense_Mutation_p.R8Q|LIN9_uc009xel.1_Intron	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	60	Sufficient for interaction with RB1.				DNA replication|cell cycle	nucleoplasm				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)		AAGTCGACTTCGTTTTGAATT	0.348000														83			5		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51729087	51729087	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51729087C>T	uc002pwa.2	+	2	487	c.447C>T	c.(445-447)atC>atT	p.I149I	CD33_uc010eos.1_Silent_p.I149I|CD33_uc010eot.1_Silent_p.I22I|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	149	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AAATCCTCATCCCTGGCACTC	0.572000														96			47		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147540	26147540	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:26147540C>T	uc002dof.3	+	1	1734	c.1342C>T	c.(1342-1344)Cag>Tag	p.Q448*		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	448					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCAAGATTTTCAGTGGGAACA	0.468000														14			5		0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819612	50819612	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50819612C>T	uc001jhw.3	+	0	1266	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	276					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TCGGGCCAACCTGCCAGTGGG	0.652000														56			31		0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108999633	108999633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:108999633G>A	uc002tea.1	+	3	851	c.478G>A	c.(478-480)Gga>Aga	p.G160R	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Intron	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	160					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TCCTGCTCCAGGAACATGGGA	0.413000														93			52		0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127474324	127474324	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:127474324C>T	uc003kus.3	+	7	1608	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Nonsense_Mutation_p.R482*	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	482					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCCGATTTTCGAGAGGAAGA	0.373000														129			21		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354073	57354074	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:57354073_57354074CC>TT	uc003xsz.2	-	1	642_643	c.561_562GG>AA	c.(559-564)gggggc>ggAAgc	p.G188S	PENK_uc003xta.3_Missense_Mutation_p.G188S	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	188					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CTCATGAAGCCCCCATATCTCT	0.520000														130			53		0	0	1	0	0
ASB17	127247	broad.mit.edu	37	1	76397607	76397607	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:76397607C>T	uc001dhe.2	-	0	510	c.370G>A	c.(370-372)Gac>Aac	p.D124N	ASB17_uc001dhf.2_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA.	124					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CAACTTCTGTCTTGAACATAG	0.338000														47			6		0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18186640	18186640	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18186640C>T	uc002nhx.1	-	7	790	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	IL12RB1_uc002nhw.1_Missense_Mutation_p.E207K|IL12RB1_uc010xqb.1_Missense_Mutation_p.E207K|IL12RB1_uc002nhy.3_Missense_Mutation_p.E207K	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	207	Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						AGCTGGAATTCCTGGGCCACA	0.597000														76			40		0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160917803	160917803	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160917803G>A	uc001fxd.3	-	6	799	c.741C>T	c.(739-741)ttC>ttT	p.F247F	ITLN2_uc009wts.3_Silent_p.F246F|ITLN2_uc010pju.2_Silent_p.F164F	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	247	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding	p.G246V(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGAACTGAACGAATCCTGCAA	0.468000														76			23		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110819862	110819862	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:110819862G>A	uc003kpf.3	+	10	1355	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	CAMK4_uc010jbv.3_Missense_Mutation_p.E177K|CAMK4_uc003kpg.3_Missense_Mutation_p.E65K	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	374					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGCTATTCCAGAAGGAGAGAA	0.537000														75			15		0	0	1	0	0
ANXA3	306	broad.mit.edu	37	4	79507429	79507429	+	Missense_Mutation	SNP	G	A	A	rs144530066	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:79507429G>A	uc003hld.3	+	5	638	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	110					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGGAACAAACGAAGATGCCTT	0.343000														100			28		0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91404546	91404546	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:91404546G>A	uc001dnw.3	-	2	2648	c.2365C>T	c.(2365-2367)Cct>Tct	p.P789S	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.P789S	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	789					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GGCTTATGAGGGTCTGAAATA	0.358000														76			30		0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234749363	234749364	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234749363_234749364GG>AA	uc002vvg.3	-	7	2128_2129	c.2062_2063CC>TT	c.(2062-2064)ccc>TTc	p.P688F	HJURP_uc010znd.2_Missense_Mutation_p.P627F|HJURP_uc010zne.2_Missense_Mutation_p.P596F	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	688					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GGAGCCCTGGGGTTCTGATAGC	0.589000														100			29		0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109696929	109696929	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:109696929C>T	uc004eor.2	+	2	3330	c.3084C>T	c.(3082-3084)tcC>tcT	p.S1028S	RGAG1_uc011msr.1_Silent_p.S1028S	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	1028										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GAGCAAGGTCCACATCATTTA	0.498000														47			61		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346365	70346365	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:70346365C>T	uc003hek.4	-	5	1621	c.1574G>A	c.(1573-1575)gGg>gAg	p.G525E	UGT2B4_uc011cap.2_Missense_Mutation_p.G389E|UGT2B4_uc003hel.4_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	525					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G525R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATCTCTTTTCCCCTTCTTTCC	0.408000														86			37		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058002	79058002	+	Silent	SNP	C	T	T	rs143941580		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:79058002C>T	uc002bej.4	-	18	4462	c.4251G>A	c.(4249-4251)gcG>gcA	p.A1417A	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1417	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A1417A(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCAGTTTCCCGCTTGCCAGC	0.642000														94			40		0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38230103	38230103	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38230103T>C	uc002ohe.3	-	4	1357	c.1288A>G	c.(1288-1290)Aaa>Gaa	p.K430E	ZNF573_uc010efs.2_Missense_Mutation_p.K343E|ZNF573_uc002ohd.3_Missense_Mutation_p.K428E|ZNF573_uc002ohf.3_Missense_Mutation_p.K372E|ZNF573_uc002ohg.3_Missense_Mutation_p.K342E|ZNF573_uc021utv.1_Missense_Mutation_p.K342E	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TGATGTTGTTTAAGGTAGCCA	0.358000														179			73		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229772115	229772115	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:229772115C>T	uc001hts.1	+	3	1891	c.1755C>T	c.(1753-1755)gcC>gcT	p.A585A	URB2_uc009xfd.1_Silent_p.A585A	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	585						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CCCTGCTGGCCCTTCTCCCGG	0.617000														148			55		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41725472	41725472	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41725472G>A	uc002yyq.1	-	4	1306	c.854C>T	c.(853-855)cCc>cTc	p.P285L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	285	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGAGTCCGAGGGGCGAATGTT	0.537000														94			29		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149521605	149521605	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149521605C>T	uc010lpk.3	+	94	13675	c.13675C>T	c.(13675-13677)Ctc>Ttc	p.L4559F	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4562					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCAACTGGCCTCTCCCCCAC	0.711000														40			16		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050073	42050073	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:42050073G>A	uc001cgz.4	-	3	1609	c.396C>T	c.(394-396)tcC>tcT	p.S132S	HIVEP3_uc001cha.4_Silent_p.S132S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	132					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGCCACGAAGGAGCCAGAGG	0.607000														106			51		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3076448	3076448	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:3076448C>T	uc003bpc.3	+	16	2255	c.1916C>T	c.(1915-1917)tCc>tTc	p.S639F	CNTN4_uc003bpb.1_Missense_Mutation_p.S310F|CNTN4_uc021wsg.1_Missense_Mutation_p.S639F|CNTN4_uc003bpd.1_Missense_Mutation_p.S639F|CNTN4_uc003bpe.3_Missense_Mutation_p.S311F|CNTN4_uc003bpf.3_Missense_Mutation_p.S310F	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	639	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.E638K(1)|p.D639D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACTCCATTCTCCGTGGGCTGG	0.537000														78			26		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128388858	128388858	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:128388858G>A	uc003qbk.3	-	11	2330	c.1963C>T	c.(1963-1965)Cct>Tct	p.P655S	PTPRK_uc010kfc.3_Missense_Mutation_p.P655S|PTPRK_uc003qbj.3_Missense_Mutation_p.P655S|PTPRK_uc011ebu.2_Missense_Mutation_p.P655S|PTPRK_uc003qbl.1_Missense_Mutation_p.P525S|PTPRK_uc011ebv.1_Missense_Mutation_p.P655S	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	655	Fibronectin type-III 4.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TATGTGACAGGAACCTGGTAG	0.522000														51			25		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012767	29012767	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29012767G>A	uc003nlw.2	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AATTTCTGAGGAAAAAGTACA	0.433000														75			29		0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173351826	173351826	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:173351826A>T	uc002uhp.1	+	13	2133	c.1930A>T	c.(1930-1932)Acc>Tcc	p.T644S	ITGA6_uc010zdy.1_Missense_Mutation_p.T525S|ITGA6_uc002uho.1_Missense_Mutation_p.T644S|ITGA6_uc010fqm.1_Missense_Mutation_p.T290S	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	683					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TAAATTTTGCACCCGAGAAGG	0.358000														45			11		0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125562841	125562841	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125562841G>A	uc011lze.2	+	0	440	c.440G>A	c.(439-441)gGa>gAa	p.G147E		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G147R(1)		endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GCCCTGGTGGGAATGGCATGG	0.617000														63			23		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154876048	154876048	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:154876048C>T	uc003wlu.1	+	1	989	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S		NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	309						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCTCATCAGTCCCCTCTGCTC	0.572000														143			46		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94377063	94377063	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:94377063C>T	uc011cdt.2	+	10	2054	c.1796C>T	c.(1795-1797)tCa>tTa	p.S599L	GRID2_uc011cdu.2_Missense_Mutation_p.S504L	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	599					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CAAATGGGATCAATGACGTCT	0.418000														117			24		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96028737	96028737	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96028737G>A	uc001kjk.3	+	16	4967	c.4333G>A	c.(4333-4335)Gat>Aat	p.D1445N	PLCE1_uc010qnx.2_Missense_Mutation_p.D1429N|PLCE1_uc001kjm.3_Missense_Mutation_p.D1137N	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1445	PI-PLC X-box.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GGACGGAGACGATGGGATGCC	0.453000														71			17		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395381	154395381	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:154395381G>A	uc010jih.1	+	0	2122	c.1962G>A	c.(1960-1962)atG>atA	p.M654I		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	654					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCGTCAAATGAAAGAGGATG	0.408000														147			39		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393656	164393656	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:164393656G>A	uc003iqp.4	-	0	1392	c.1231C>T	c.(1231-1233)Caa>Taa	p.Q411*		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	411						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATATTGGCTTGAGAAATGGCT	0.498000														32			18		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970966	123970966	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:123970966G>A	uc001lfv.3	+	8	7386	c.7026G>A	c.(7024-7026)tgG>tgA	p.W2342*	TACC2_uc001lfw.3_Nonsense_Mutation_p.W488*|TACC2_uc009xzx.3_Nonsense_Mutation_p.W2297*|TACC2_uc010qtv.2_Nonsense_Mutation_p.W2346*|TACC2_uc001lfx.3_Nonsense_Mutation_p.W46*|TACC2_uc001lfy.3_Nonsense_Mutation_p.W46*|TACC2_uc001lfz.3_Nonsense_Mutation_p.W420*|TACC2_uc001lga.3_Nonsense_Mutation_p.W420*|TACC2_uc009xzy.3_Nonsense_Mutation_p.W420*|TACC2_uc001lgb.3_Nonsense_Mutation_p.W377*|TACC2_uc010qtw.1_Nonsense_Mutation_p.W437*	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2342	SPAZ.					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)				TTGACAAGTGGGATGACCCCA	0.463000														248			111		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726382	12726382	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12726382C>T	uc001auf.3	+	3	860	c.860C>T	c.(859-861)cCt>cTt	p.P287L		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	287						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TGGCTCAGCCCTGACAACATC	0.512000														106			47		0	0	1	0	0
FAM134A	79137	broad.mit.edu	37	2	220047103	220047103	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220047103C>T	uc002vjw.4	+	8	1520	c.1384C>T	c.(1384-1386)Ccc>Tcc	p.P462S	FAM134A_uc010fwc.3_Missense_Mutation_p.P255S|FAM134A_uc002vjx.3_Intron	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.	462						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGACCCAGCCCCCTCCCCTTC	0.617000														145			69		0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129847804	129847804	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:129847804G>A	uc009yat.3	+	6	744	c.327G>A	c.(325-327)agG>agA	p.R109R	PTPRE_uc001lkb.3_Silent_p.R98R|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Silent_p.R98R|PTPRE_uc001lkc.1_Non-coding_Transcript|PTPRE_uc001lkd.3_Silent_p.R40R|PTPRE_uc010quq.1_5'UTR	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	98					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				AGCAGCAAAGGGTGATGCTGC	0.542000														70			24		0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97527522	97527522	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:97527522G>A	uc002sxg.4	-	10	1943	c.1712C>T	c.(1711-1713)gCc>gTc	p.A571V	SEMA4C_uc002sxf.4_Missense_Mutation_p.A18V|SEMA4C_uc002sxe.3_Missense_Mutation_p.A18V|SEMA4C_uc002sxh.4_Missense_Mutation_p.A518V	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	518	Ig-like C2-type.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GACGCTCCAGGCGCAATAGGG	0.647000														64			17		0	0	1	0	0
AKT1	207	broad.mit.edu	37	14	105239822	105239822	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105239822C>T	uc001ypk.3	-	8	1352	c.798G>A	c.(796-798)tcG>tcA	p.S266S	AKT1_uc001ypl.3_Silent_p.S266S|AKT1_uc010axa.3_Silent_p.S266S|AKT1_uc001ypm.3_Silent_p.S266S|AKT1_uc001ypn.3_Silent_p.S266S|AKT1_uc001ypj.3_5'Flank|AKT1_uc010tyk.2_Silent_p.S204S	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	266	Protein kinase.				G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CGTTCTTCTCCGAGTGCAGGT	0.672000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""									32			4		0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6731807	6731807	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:6731807G>A	uc003sqt.1	-	4	1320	c.766C>T	c.(766-768)Ctc>Ttc	p.L256F	ZNF12_uc011jxa.1_Missense_Mutation_p.L94F|ZNF12_uc003sqs.1_Missense_Mutation_p.L218F	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	256					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGTACAGTGAGGTCCGACATC	0.388000														52			18		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676363	11676363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:11676363C>T	uc021zzo.1	-	1	668	c.416G>A	c.(415-417)aGc>aAc	p.S139N	THSD7A_uc021zzn.1_Missense_Mutation_p.S139N	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	139						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTTCTCTAGGCTTTTTGAAAT	0.458000										HNSCC(18;0.044)				54			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474049	179474049	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179474049C>T	uc021vsy.1	-	221	44509	c.44284G>A	c.(44284-44286)Gga>Aga	p.G14762R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G8457R|TTN_uc021vta.1_Missense_Mutation_p.G8390R|TTN_uc021vtb.1_Missense_Mutation_p.G8265R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15689	Fibronectin type-III 6.						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)			TGAGATTCTCCCTTTTTGCTG	0.463000														51			10		0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198326	15198326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15198326G>A	uc010xoe.2	+	0	450	c.450G>A	c.(448-450)atG>atA	p.M150I		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CATCATGGATGATCACCAACC	0.562000														43			15		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184298401	184298401	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:184298401C>T	uc003foz.3	+	11	2821	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	795	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TACACCAGTTCCCTGGTACAG	0.642000														66			30		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100594366	100594366	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:100594366C>T	uc003dun.3	-	7	909	c.824G>A	c.(823-825)gGa>gAa	p.G275E	ABI3BP_uc003duo.2_Missense_Mutation_p.G268E|ABI3BP_uc003dup.4_Missense_Mutation_p.G268E	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	275						extracellular space		p.L274L(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TATCACTCCTCCCAGTGGAGC	0.438000														51			15		0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6479870	6479870	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6479870C>T	uc002mfe.3	-	3	218	c.126_splice	c.e3+1	p.Q42_splice	DENND1C_uc002mfd.3_Splice_Site|DENND1C_uc010xje.2_Intron	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	42	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCCTGAATACCTGGTCCCTGA	0.652000														21			12		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845774	123845774	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:123845774G>A	uc001lfv.3	+	3	4119	c.3759G>A	c.(3757-3759)gtG>gtA	p.V1253V	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.V1253V|TACC2_uc010qtv.2_Silent_p.V1253V	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1253						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)				ACAGTGGAGTGAAAGCTGTTT	0.592000														141			17		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32595760	32595760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:32595760G>A	uc002yow.1	-	8	2429	c.1957C>T	c.(1957-1959)Cgc>Tgc	p.R653C	TIAM1_uc011adk.1_Missense_Mutation_p.R653C|TIAM1_uc011adl.1_Missense_Mutation_p.R653C|TIAM1_uc002yox.1_Missense_Mutation_p.R261C	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	653					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	p.R653H(1)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATTCCAAGGCGGCCCATGGCC	0.483000														76			35		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38935268	38935268	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38935268C>T	uc002oit.3	+	6	712	c.582C>T	c.(580-582)ttC>ttT	p.F194F	RYR1_uc002oiu.3_Silent_p.F194F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	194	MIR 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACGCTTCCTTCATGCAGACAC	0.622000														19			10		0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89854724	89854724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:89854724G>A	uc010len.3	+	2	834	c.328G>A	c.(328-330)Ggt>Agt	p.G110S	STEAP2_uc003ujy.2_Missense_Mutation_p.G152S|STEAP2_uc003uka.3_Missense_Mutation_p.G110S|STEAP2_uc003ujz.3_Missense_Mutation_p.G110S|STEAP2_uc003ukc.3_Missense_Mutation_p.G110S|STEAP2_uc003ukb.3_Missense_Mutation_p.G110S|STEAP2_uc003ukd.3_Missense_Mutation_p.G110S	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	110					Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TCTGCTTGTGGGTAAAATCCT	0.378000														142			70		0	0	1	0	0
C15orf54	400360	broad.mit.edu	37	15	39544722	39544722	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:39544722G>A	uc001zkg.2	+	1	754	c.386G>A	c.(385-387)tGg>tAg	p.W129*	C15orf54_uc021sjb.1_Nonsense_Mutation_p.W129*	NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	Homo sapiens chromosome 15 open reading frame 54 (C15orf54), mRNA.	129										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		TCTCCTGGGTGGAAGAACATG	0.468000														112			40		0	0	1	0	0
AHCY	191	broad.mit.edu	37	20	32879235	32879235	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:32879235G>A	uc002xai.3	-	4	687	c.548C>T	c.(547-549)tCc>tTc	p.S183F	AHCY_uc002xaj.3_Missense_Mutation_p.S155F	NM_000687	NP_001155238	P23526	SAHH_HUMAN	Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1, mRNA.	183					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTTGGTGACGGAGTCATTGAC	0.572000														96			44		0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685672	125685672	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:125685672C>T	uc022cds.1	-	0	920	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	DCAF12L1_uc004eul.3_Missense_Mutation_p.R307Q	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	307										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						CACATTATCCCGGAAGTAGGG	0.582000														26			34		0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129663406	129663406	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:129663406G>A	uc003vpi.3	-	7	1205	c.1178C>T	c.(1177-1179)cCa>cTa	p.P393L	ZC3HC1_uc010lma.3_Intron	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	393					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					AGGGCTAGATGGTACCTCCAG	0.607000														116			47		0	0	1	0	0
MSS51	118490	broad.mit.edu	37	10	75184446	75184446	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:75184446G>A	uc009xrh.3	-	7	1390	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	MSS51_uc001juc.3_3'UTR|MSS51_uc001jud.3_Silent_p.S416S|MSS51_uc009xrg.3_Silent_p.S195S	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	Homo sapiens zinc finger, MYND-type containing 17 (ZMYND17), mRNA.	416							zinc ion binding										CAGGTTTGAGGGACATGAAAG	0.453000														115			12		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110911	81110911	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81110911C>T	uc001szg.2	+	0	204	c.69C>T	c.(67-69)tcC>tcT	p.S23S		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	23					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GCATACCGTCCCCCGAGGGTG	0.617000														28			26		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31606007	31606007	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:31606007C>T	uc002rnv.1	-	10	977	c.898G>A	c.(898-900)Gga>Aga	p.G300R		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	300	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CAAGCAGCTCCAAAGGAGATA	0.522000														51			17		0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	15991445	15991445	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:15991445G>A	uc003goo.2	-	17	2198	c.1986C>T	c.(1984-1986)ccC>ccT	p.P662P	PROM1_uc003gor.2_Silent_p.P662P|PROM1_uc003gos.2_Silent_p.P653P|PROM1_uc003got.2_Silent_p.P662P|PROM1_uc003gou.2_Silent_p.P653P|PROM1_uc003gop.2_Silent_p.P653P|PROM1_uc003goq.3_Silent_p.P653P	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	662					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AATTTCCTGGGGGCTACAAAA	0.438000														7			3		0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128452782	128452782	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128452782G>A	uc003vnv.2	+	13	2978	c.2562G>A	c.(2560-2562)gtG>gtA	p.V854V	CCDC136_uc003vnu.2_Intron|CCDC136_uc003vnx.2_Silent_p.V670V|CCDC136_uc010llq.2_Silent_p.V223V|CCDC136_uc003vny.2_Silent_p.V464V	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	854						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AAATGGTTGTGAAAGTGCTGA	0.577000														34			16		0	0	1	0	0
QRFPR	84109	broad.mit.edu	37	4	122250756	122250756	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:122250756C>T	uc010inj.1	-	5	1388	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_3'UTR	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.	337						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TTGAAGTTTTCATTCATAAAT	0.323000														46			13		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24242028	24242028	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24242028G>A	uc003xdz.2	+	0	231	c.11G>A	c.(10-12)gGg>gAg	p.G4E	ADAMDEC1_uc010lub.2_5'UTR|ADAMDEC1_uc011lab.1_5'UTR	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	4					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		ATGCTGCGTGGGATCTCCCAG	0.468000														18			12		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875287	247875287	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247875287G>A	uc001idj.1	-	0	771	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGACGTGAAGGAAAACTGTGG	0.527000														103			37		0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135554246	135554246	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135554246C>T	uc010mzv.3	+	1	1498	c.1240C>T	c.(1240-1242)Cac>Tac	p.H414Y	GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	414					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GCTGAATGTTCACAATTCCCA	0.458000														121			49		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116224391	116224391	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116224391A>G	uc004bhq.3	+	3	534	c.325A>G	c.(325-327)Agc>Ggc	p.S109G	RGS3_uc004bhr.3_5'Flank|RGS3_uc004bhs.3_5'Flank	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	109					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGAGTGGCTAAGCCCTGATAT	0.557000														109			11		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6206765	6206765	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6206765C>T	uc001amb.2	-	9	1661	c.1550G>A	c.(1549-1551)gGg>gAg	p.G517E	CHD5_uc001ama.2_5'Flank|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	517	Chromo 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTAGGACAGCCCTGCCCACTT	0.652000														42			10		0	0	1	0	0
FOXI2	399823	broad.mit.edu	37	10	129536979	129536979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:129536979C>T	uc009yas.2	+	1	707	c.707C>T	c.(706-708)cCa>cTa	p.P236L	BC132944_uc009yar.1_5'Flank	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN	Homo sapiens forkhead box I2 (FOXI2), mRNA.	236					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA 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			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				TCGCCCTCTCCATCCGCACCC	0.751000														16			4		0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27528496	27528496	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27528496G>A	uc002rjo.3	+	4	957	c.654G>A	c.(652-654)gaG>gaA	p.E218E	TRIM54_uc002rjn.3_Silent_p.E260E	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	218					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGGTTTGAGAGCCTGTGCG	0.627000														13			13		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41976634	41976634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:41976634C>T	uc001cgz.4	-	8	7922	c.6709G>A	c.(6709-6711)Gag>Aag	p.E2237K	HIVEP3_uc001cha.4_Missense_Mutation_p.E2236K|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	2237					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCCTGGGCCTCCCGGGCCCCT	0.697000														52			14		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6472810	6472810	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:6472810C>T	uc001iji.1	-	15	2110	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	PRKCQ_uc001ijj.2_Missense_Mutation_p.E643K|PRKCQ_uc009xim.2_Missense_Mutation_p.E580K|PRKCQ_uc009xin.2_Missense_Mutation_p.E607K|PRKCQ_uc010qax.2_Missense_Mutation_p.E518K	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	643	AGC-kinase C-terminal.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TCCTTCCGTTCAAGTTCCTCC	0.602000														68			23		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274171	103274171	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103274171C>T	uc002tca.3	+	1	580	c.438C>T	c.(436-438)ctC>ctT	p.L146L		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	146						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGTACCTCCTCCCACCCATCG	0.458000														237			63		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131522171	131522171	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:131522171C>T	uc021voy.1	+	0	2526	c.2526C>T	c.(2524-2526)ctC>ctT	p.L842L	FAM123C_uc002trw.2_Silent_p.L842L|FAM123C_uc010fmv.2_Silent_p.L842L|FAM123C_uc010fms.1_Silent_p.L842L|FAM123C_uc010fmt.1_Silent_p.L842L|FAM123C_uc010fmu.1_Silent_p.L842L	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	842										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GTGAGGGCCTCCTCTGTGGCC	0.627000														14			8		0	0	1	0	0
STARD7	56910	broad.mit.edu	37	2	96859059	96859059	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:96859059G>A	uc002svm.4	-	3	982	c.581C>T	c.(580-582)gCc>gTc	p.A194V	STARD7_uc002svl.3_5'UTR	NM_020151	NP_064536	Q9NQZ5	STAR7_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 7 (STARD7), mRNA.	194	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						GATTACCAGGGCATCCCATTT	0.423000														98			48		0	0	1	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117774392	117774392	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:117774392G>A	uc001prs.2	-	11	1801	c.1655C>T	c.(1654-1656)cCc>cTc	p.P552L	TMPRSS13_uc009yzr.2_Missense_Mutation_p.P517L|TMPRSS13_uc021qrc.1_Missense_Mutation_p.P552L|TMPRSS13_uc001prt.1_Missense_Mutation_p.P231L	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	547	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GTAAATCCAGGGAAGAACTTC	0.577000														28			14		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76022865	76022865	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:76022865C>T	uc010kbe.3	-	5	3222	c.2692G>A	c.(2692-2694)Ggg>Agg	p.G898R	FILIP1_uc003phy.1_Missense_Mutation_p.G895R|FILIP1_uc003phz.3_Missense_Mutation_p.G796R|FILIP1_uc003pia.3_Missense_Mutation_p.G895R|FILIP1_uc003pib.1_Missense_Mutation_p.G647R	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	895										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCTGGGTGCCCTGGACTGGAA	0.532000														100			9		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113312259	113312259	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113312259G>A	uc010mtz.3	-	1	994	c.657C>T	c.(655-657)ttC>ttT	p.F219F	SVEP1_uc010mua.1_Silent_p.F219F|SVEP1_uc004beu.2_Silent_p.F219F|SVEP1_uc004bev.3_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	219	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGCCAAAAGTGAAGATCTCCA	0.458000														54			13		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232556	21232556	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21232556C>T	uc002red.3	-	25	7312	c.7184G>A	c.(7183-7185)gGa>gAa	p.G2395E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2395					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCAATAAATCCAACCAATTT	0.313000														25			8		0	0	1	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74364604	74364604	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74364604C>T	uc002axa.1	-	13	1589	c.1548G>A	c.(1546-1548)cgG>cgA	p.R516R	DQ572823_uc010ulg.2_5'Flank|DQ582073_uc021sqc.1_5'Flank	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA.	516										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TTGGCGTGGGCCGAGGCGCCT	0.632000														175			17		0	0	1	0	0
TPTE2P3	220115	broad.mit.edu	37	13	53105788	53105788	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:53105788C>T	uc001vgw.3	+	12		c.1480C>T								Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3 (TPTE2P3), non-coding RNA.																		AAGAGTTTTTCGTCTGGCTCA	0.338000														11			4		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73045661	73045661	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:73045661G>A	uc010izf.3	+	3	210	c.34_splice	c.e3-1	p.G12_splice	RGNEF_uc011csq.2_Splice_Site_p.G12_splice|RGNEF_uc003kcy.1_Splice_Site_p.G12_splice|RGNEF_uc021yam.1_Splice_Site_p.G12_splice	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	12					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TCCTTTTTCAGGGGCAGATGA	0.418000														49			16		0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33623141	33623141	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:33623141C>T	uc002nui.3	+	0	144	c.66C>T	c.(64-66)tcC>tcT	p.S22S		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	22										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CGCCACCCTCCGCCCCCGCCA	0.701000														72			8		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53225195	53225195	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53225195C>T	uc001sbb.3	-	1	726	c.693G>A	c.(691-693)aaG>aaA	p.K231K	KRT79_uc001sba.3_5'Flank	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	231	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCACTTGTTCTTGAAGTCCT	0.642000														107			35		0	0	1	0	0
CELA2A	63036	broad.mit.edu	37	1	15789950	15789950	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:15789950C>T	uc001awk.3	+	4	452	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_033440	NP_254275	P08217	CEL2A_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2A (CELA2A), mRNA.	142	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						TGGCCTGCCTCCCTCCTGCCG	0.627000														72			40		0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42458405	42458405	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42458405G>A	uc001zpd.3	-	16	1816	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	VPS39_uc001zpc.3_Silent_p.F544F|VPS39_uc001zpb.3_5'UTR	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	555					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CTGAGTAGGAGAAAATCAAAT	0.512000														63			21		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114111003	114111003	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:114111003G>A	uc003ynu.3	-	4	1058	c.899C>T	c.(898-900)tCt>tTt	p.S300F	CSMD3_uc003ynt.3_Missense_Mutation_p.S260F|CSMD3_uc011lhx.2_Missense_Mutation_p.S300F|CSMD3_uc010mcx.1_Missense_Mutation_p.S300F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	300	CUB 2.					integral to membrane|plasma membrane		p.S300F(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						AGGTGGCTCAGAACCTTCTAT	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				43			8		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54746089	54746089	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54746089C>T	uc010erh.1	-	2	292	c.168G>A	c.(166-168)caG>caA	p.Q56Q	LILRB3_uc002qew.2_Silent_p.Q56Q|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Silent_p.Q56Q|LILRB3_uc002qeh.1_Silent_p.Q56Q|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Silent_p.Q56Q|LILRB3_uc002qek.1_Silent_p.Q56Q|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Silent_p.Q56Q|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Silent_p.Q56Q|LILRB3_uc002qep.1_Silent_p.Q56Q|LILRB3_uc002qeq.1_Silent_p.Q56Q|LILRB3_uc010yep.1_Silent_p.Q56Q|LILRB3_uc010yeq.1_Silent_p.Q56Q|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Silent_p.Q56Q|LILRB3_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	56	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTTGGTACTCCTGGGCCTCCA	0.592000														290			50		0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116037711	116037711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:116037711G>A	uc001lbl.1	+	6	926	c.605G>A	c.(604-606)gGg>gAg	p.G202E	VWA2_uc001lbk.1_Missense_Mutation_p.G202E|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	202	VWFA 1.					extracellular region				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)		GAGCCTAGAGGGCAGCACGTG	0.632000														20			11		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	118810	118810	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000209.1:118810G>A	uc010yie.2	+	2	298	c.287G>A	c.(286-288)gGg>gAg	p.G96E	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.G93E|KIR2DL2_uc002qum.3_Missense_Mutation_p.G96E	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	96	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										GACCTGGCAGGGACCTACAGA	0.527000														149			115		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1103314	1103314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1103314C>T	uc001lsx.1	+	47	8079	c.8052C>T	c.(8050-8052)atC>atT	p.I2684I		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	5050						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCATTTGCATCCCGGTGAGTT	0.602000														56			5		0	0	1	0	0
ACTA2	59	broad.mit.edu	37	10	90695041	90695041	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:90695041C>T	uc001kfp.3	-	8	1189	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Nonsense_Mutation_p.W313*|ACTA2_uc001kfq.3_Nonsense_Mutation_p.W358*|AX748062_uc001kfo.1_Non-coding_Transcript	NM_001613	NP_001604	P62736	ACTA_HUMAN	Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA.	358					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TTTGCTGATCCACATCTGCTG	0.517000											OREG0020356	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		148			10		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26228957	26228957	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26228957C>T	uc003abz.1	+	15	3303	c.3053C>T	c.(3052-3054)cCc>cTc	p.P1018L	MYO18B_uc003aca.1_Missense_Mutation_p.P899L|MYO18B_uc010guy.1_Missense_Mutation_p.P899L|MYO18B_uc010guz.1_Missense_Mutation_p.P899L|MYO18B_uc011aka.1_Missense_Mutation_p.P172L|MYO18B_uc011akb.1_Missense_Mutation_p.P531L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1018	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						GATCAAAATCCCTCTCAGGTA	0.498000														69			27		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191487	66191487	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66191487C>T	uc001ohx.1	+	6	1302	c.1126C>T	c.(1126-1128)Ccc>Tcc	p.P376S	NPAS4_uc010rpc.1_Missense_Mutation_p.P166S	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	376					transcription, DNA-dependent		DNA binding|signal transducer activity	p.F375_P376>S(2)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CACCAGCTTCCCCAGTGCTCC	0.552000														188			81		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26725395	26725395	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:26725395C>T	uc001mra.2	-	4	938	c.625G>A	c.(625-627)Gga>Aga	p.G209R	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Missense_Mutation_p.G209R	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	209					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.G209G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TTGTGGAATCCCCCAGCATGA	0.398000														169			62		0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19480671	19480671	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:19480671G>A	uc002gvx.3	+	16	1604	c.1518G>A	c.(1516-1518)acG>acA	p.T506T	SLC47A1_uc002gvy.1_Silent_p.T506T|SLC47A1_uc010vyz.1_3'UTR|SLC47A1_uc010cqp.1_Silent_p.T204T|SLC47A1_uc010cqq.1_Silent_p.T252T|SLC47A1_uc010vza.1_Silent_p.T218T|SLC47A1_uc010vzb.1_Silent_p.T181T|SLC47A1_uc010vzc.1_Silent_p.T178T	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	506						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GAATTTTAACGAACGATGTTG	0.443000														60			22		0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38320156	38320157	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:38320156_38320157CC>TT	uc010cwt.1	+	6	1503_1504	c.1208_1209CC>TT	c.(1207-1209)tcc>tTT	p.S403F	CASC3_uc010cws.1_Missense_Mutation_p.S403F|CASC3_uc002hue.3_Missense_Mutation_p.S403F	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	403	Necessary for localization in cytoplasmic stress granules.				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GAGAAGAAATCCTATTCCCGGG	0.569000														119			19		0	0	1	0	0
ZFP1	162239	broad.mit.edu	37	16	75203605	75203605	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:75203605C>T	uc002fdq.3	+	3	721	c.597C>T	c.(595-597)ctC>ctT	p.L199L	ZFP1_uc010cgt.3_Silent_p.L166L|ZFP1_uc002fdo.3_Silent_p.L199L|ZFP1_uc002fdp.3_Silent_p.L144L|ZFP1_uc010cgs.3_Silent_p.L144L	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN	Homo sapiens zinc finger protein 1 homolog (mouse) (ZFP1), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						AGTCACTCCTCATTAGTCATA	0.358000														44			13		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72969065	72969065	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:72969065G>A	uc001sxa.3	+	10	2057	c.2027G>A	c.(2026-2028)gGa>gAa	p.G676E		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	676					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						TTGGACAAAGGAAGCTGGCTG	0.333000														57			25		0	0	1	0	0
RGS14	10636	broad.mit.edu	37	5	176795904	176795904	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176795904C>T	uc003mgh.3	+	8	1218	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	RGS14_uc003mgf.3_Silent_p.L346L|RGS14_uc003mgg.1_Silent_p.L193L|RGS14_uc003mgi.3_Silent_p.L116L	NM_006480	NP_006471	O43566	RGS14_HUMAN	Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.	346	Necessary for interaction with RABGEF1 (By similarity).|RBD 1.				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	PML body|cell junction|centrosome|dendritic spine|microtubule|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAGGTCTACCTGGTGGGCAA	0.567000											OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			13		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183090	102183090	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:102183090C>T	uc003dvt.1	+	6	904	c.804C>T	c.(802-804)ttC>ttT	p.F268F	ZPLD1_uc003dvs.1_Silent_p.F252F|ZPLD1_uc011bhg.1_Silent_p.F252F	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	252	ZP.					integral to membrane		p.F268Y(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATGATCTTTTCCTTAGGTAAG	0.313000														90			35		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16902777	16902777	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16902777G>A	uc009vos.1	-	18	2992	c.2104C>T	c.(2104-2106)Caa>Taa	p.Q702*	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Nonsense_Mutation_p.Q160*|NBPF1_uc010oce.1_Nonsense_Mutation_p.Q431*	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	702						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)		CTGAGCTTTTGGACAAGGTGC	0.562000														618			29		0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2511789	2511789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2511789C>T	uc002cqh.3	+	4	678	c.647C>T	c.(646-648)tCc>tTc	p.S216F	C16orf59_uc002cqg.2_Missense_Mutation_p.S49F|C16orf59_uc002cqi.3_Missense_Mutation_p.S49F|C16orf59_uc010uwb.2_Missense_Mutation_p.S49F	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	216										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				AAAGCAGCTTCCCAGAACTCG	0.612000														79			16		0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817892	7817892	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7817892C>T	uc001mfp.1	-	0	598	c.598G>A	c.(598-600)Gga>Aga	p.G200R		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGATGGATCCAGAAGAAAAT	0.453000														83			8		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90347765	90347765	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90347765G>C	uc002bop.4	-	4	1273	c.981C>G	c.(979-981)ttC>ttG	p.F327L		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	327	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GACCAGCAAAGAAGTTAAGGA	0.597000														140			10		0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218356	134218356	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:134218356C>T	uc001lll.4	+	1	381	c.352C>T	c.(352-354)Cct>Tct	p.P118S	PWWP2B_uc009ybe.3_Missense_Mutation_p.P118S	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	118	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCCCCCGTACCCTCCCTACTT	0.756000														20			17		0	0	1	0	0
ZNF280D	54816	broad.mit.edu	37	15	56961140	56961140	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:56961140G>A	uc002adu.3	-	13	1643	c.1426C>T	c.(1426-1428)Cgt>Tgt	p.R476C	ZNF280D_uc002adv.3_Missense_Mutation_p.R463C|ZNF280D_uc010bfq.3_Missense_Mutation_p.R476C|ZNF280D_uc002adw.1_Missense_Mutation_p.R504C|ZNF280D_uc010bfr.1_Non-coding_Transcript|ZNF280D_uc010bfp.3_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTTGTACAACGATGTATTCCT	0.328000														66			17		0	0	1	0	0
AHCYL2	23382	broad.mit.edu	37	7	128865045	128865045	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128865045C>T	uc011kov.2	+	0	191	c.128C>T	c.(127-129)cCc>cTc	p.P43L	AHCYL2_uc003vot.3_Missense_Mutation_p.P43L	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	43					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GCCATGGCCCCCCCGGCGGGC	0.786000														1			3		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8483425	8483425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:8483425C>T	uc001mgi.1	-	3	1404	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	STK33_uc001mgj.1_Missense_Mutation_p.R162Q|STK33_uc001mgk.1_Missense_Mutation_p.R162Q|STK33_uc010rbn.1_Missense_Mutation_p.R121Q|STK33_uc001mgl.3_5'UTR|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	162	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GTTCACCTCTCGTTCAAGTAA	0.363000														84			33		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139263219	139263219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:139263219C>T	uc003yuy.3	-	5	578	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	FAM135B_uc003yux.3_Missense_Mutation_p.R37Q|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	136								p.S135R(1)		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)			GCCAAGCGTTCGGCTGCTGAC	0.592000										HNSCC(54;0.14)				111			47		0	0	1	0	0
KLRG1	10219	broad.mit.edu	37	12	9161639	9161639	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:9161639G>A	uc001qvh.3	+	3	437	c.426G>A	c.(424-426)agG>agA	p.R142R	KLRG1_uc001qvg.3_Silent_p.R142R	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 1 (KLRG1), mRNA.	142	C-type lectin.				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						CTGGCTGGAGGTGGGAAGATG	0.448000														63			9		0	0	1	0	0
COMMD3-BMI1	100532731	broad.mit.edu	37	10	22616968	22616968	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:22616968G>A	uc009xkg.3	+	9	870	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	COMMD3-BMI1_uc001irh.3_Missense_Mutation_p.E136K	NM_001204062	NP_001190991	P35226	BMI1_HUMAN	Homo sapiens COMMD3-BMI1 readthrough (COMMD3-BMI1), mRNA.	136	Pro/Ser-rich.				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	PcG protein complex|cytoplasm|nucleolus|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding										CTTATCCATTGAATTCTTTGA	0.299000														79			28		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123481366	123481366	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:123481366G>A	uc001uej.1	-	10	1763	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S	PITPNM2_uc001uek.1_Missense_Mutation_p.P522S	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	522					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGGTACTGGGGGGAGGAGGTG	0.617000														75			24		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320560	56320560	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56320560G>A	uc010ygf.2	-	4	2127	c.1416C>T	c.(1414-1416)ccC>ccT	p.P472P	NLRP11_uc002qlz.3_Silent_p.P373P|NLRP11_uc002qmb.3_Silent_p.P373P|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	472							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGCTGCCTGAGGGGATCAGAT	0.398000														72			32		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51215210	51215210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51215210G>A	uc002psx.1	-	5	973	c.954C>T	c.(952-954)atC>atT	p.I318I		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	318					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCACCTGGTGGATTTCCTGCC	0.642000														103			34		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76587742	76587742	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:76587742G>A	uc002fex.1	+	21	3819	c.3680G>A	c.(3679-3681)gGa>gAa	p.G1227E	CNTNAP4_uc002feu.1_Missense_Mutation_p.G1223E|CNTNAP4_uc002fev.1_Missense_Mutation_p.G1088E|CNTNAP4_uc010chb.1_Missense_Mutation_p.G1151E	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1224					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GATCATTCTGGAACAATAGAT	0.373000														19			4		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958704	121958704	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:121958704G>A	uc003idq.1	-	3	949	c.422C>T	c.(421-423)tCc>tTc	p.S141F		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	141	Poly-Ser.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						ACCGGATGGGGAACTAGACGA	0.413000														95			40		0	0	1	0	0
RHOXF1	158800	broad.mit.edu	37	X	119249751	119249751	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:119249751C>T	uc004esk.1	-	0	97	c.22G>A	c.(22-24)Gac>Aac	p.D8N	AK123976_uc004esi.1_Intron	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Homo sapiens Rhox homeobox family, member 1 (RHOXF1), mRNA.	8					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						AACACGGTGTCGTGGACGAGC	0.607000														35			8		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106215	55106215	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55106215C>T	uc002qgh.1	+	3	338	c.156C>T	c.(154-156)atC>atT	p.I52I	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.I52I	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	52	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GTCAGGGGATCCTGGAGACCC	0.577000														101			36		0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90177088	90177088	+	Silent	SNP	C	T	T	rs141497185		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90177088C>T	uc002bof.2	-	11	2498	c.2421G>A	c.(2419-2421)acG>acA	p.T807T	KIF7_uc010upw.1_Silent_p.T293T	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	807					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCAGCCGCTCCGTAGCCTGCT	0.637000														78			14		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119953055	119953055	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:119953055C>T	uc010inb.3	+	3	3321	c.3125C>T	c.(3124-3126)tCa>tTa	p.S1042L	SYNPO2_uc010ina.3_Missense_Mutation_p.S1042L|SYNPO2_uc003icm.4_Missense_Mutation_p.S1042L|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Intron|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	1042						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGGCCTCCTCACCAGTCAGT	0.542000														59			20		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81969958	81969958	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:81969958G>A	uc002fgt.3	+	26	3205	c.3027G>A	c.(3025-3027)atG>atA	p.M1009I		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	1009	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.M1009T(1)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GTTCTCAGATGGTGGCACTCA	0.567000														62			18		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39114782	39114782	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39114782C>T	uc003xmt.4	+	18	2327	c.2082C>T	c.(2080-2082)ctC>ctT	p.L694L	ADAM32_uc011lch.2_Silent_p.L595L|ADAM32_uc003xmu.4_Silent_p.L588L|ADAM32_uc003xmv.3_Silent_p.L118L	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	694					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTCCTATTCTCATTGTAACAA	0.388000														78			26		0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52708472	52708472	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:52708472A>G	uc002aby.2	-	4	726	c.482T>C	c.(481-483)gTa>gCa	p.V161A	MYO5A_uc002abx.3_Missense_Mutation_p.V161A|MYO5A_uc010uge.1_Missense_Mutation_p.V30A	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	161	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTCTCCACTTACGATGATGGA	0.423000														83			31		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52232540	52232540	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:52232540G>A	uc003xqu.4	-	22	4404	c.4303C>T	c.(4303-4305)Ccc>Tcc	p.P1435S	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1435	VWFC.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGGGACAGGGAGCCGGGGGA	0.483000														15			7		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189964865	189964865	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189964865C>T	uc002uqk.3	-	4	612	c.337_splice	c.e4-1	p.G113_splice		NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	113					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCTTTTGTCCCTGTGACATT	0.328000														75			23		0	0	1	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202400940	202400940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:202400940G>A	uc002uyf.3	-	12	1362	c.1310C>T	c.(1309-1311)cCt>cTt	p.P437L	ALS2CR11_uc002uye.3_Missense_Mutation_p.P437L|ALS2CR11_uc010fti.3_Intron|ALS2CR11_uc021vvc.1_Missense_Mutation_p.P437L	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	437										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TGTGGGTGAAGGTGTTGATTC	0.403000														114			58		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31864570	31864570	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:31864570G>A	uc003tcm.2	-	12	1778	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	PDE1C_uc003tcn.1_Silent_p.F439F|PDE1C_uc003tco.2_Silent_p.F499F|PDE1C_uc003tcr.3_Silent_p.F439F|PDE1C_uc003tcs.3_Silent_p.F439F	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	439	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TAAGCACAGTGAAGGTGGGTT	0.473000														95			49		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98413354	98413354	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:98413354G>A	uc002syh.4	-	26	3195	c.2966C>T	c.(2965-2967)tCc>tTc	p.S989F		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	989						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AAAGCGTAAGGAGCTTCCTGG	0.423000														56			23		0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113544905	113544905	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113544905C>T	uc001tun.2	-	15	1958	c.1657G>A	c.(1657-1659)Gaa>Aaa	p.E553K	RASAL1_uc010syp.2_Missense_Mutation_p.E552K|RASAL1_uc001tul.3_Missense_Mutation_p.E552K|RASAL1_uc001tum.2_Missense_Mutation_p.E552K|RASAL1_uc010syq.2_Missense_Mutation_p.E552K|RASAL1_uc001tuo.4_Missense_Mutation_p.E552K|RASAL1_uc010syr.2_3'UTR	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	551					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AACTCACCTTCATCCCCATCC	0.597000														54			23		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748171	19748171	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19748171G>A	uc009zzj.3	-	4	1290	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	395					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ACATGAGATCGAACTTATGGT	0.642000														158			57		0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013021	73013021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:73013021C>T	uc003hgg.2	+	3	1159	c.1061C>T	c.(1060-1062)cCt>cTt	p.P354L	NPFFR2_uc010iig.2_Missense_Mutation_p.P136L|NPFFR2_uc003hgi.2_Missense_Mutation_p.P255L|NPFFR2_uc003hgh.2_Missense_Mutation_p.P252L	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	354					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.V353A(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GCTGCAGTTCCTCACACAGGC	0.498000														64			28		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54403940	54403940	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54403940G>A	uc002qcq.1	+	13	1794	c.1512G>A	c.(1510-1512)gaG>gaA	p.E504E	PRKCG_uc010yeg.1_Silent_p.E504E|PRKCG_uc010yeh.1_Silent_p.E391E	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	504	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TGTGTAAGGAGAACGTCTTCC	0.587000														361			90		0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48157768	48157768	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:48157768C>T	uc001ngp.4	+	8	2148	c.1793C>T	c.(1792-1794)cCg>cTg	p.P598L	PTPRJ_uc010rhr.1_Missense_Mutation_p.P43L	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	598	Fibronectin type-III 6.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGCCTGATTCCGGGCACCTTA	0.512000														42			32		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093720	143093720	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:143093720G>A	uc003qjd.3	-	4	2899	c.2156C>T	c.(2155-2157)aCt>aTt	p.T719I		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	719					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCCCACAGGAGTGCTTACAAT	0.507000														59			24		0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98743903	98743903	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98743903C>T	uc001kmv.3	+	0	2863	c.2756C>T	c.(2755-2757)tCa>tTa	p.S919L		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	919										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TATCCCAGTTCACTACAGGCT	0.468000														84			38		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103444967	103444967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:103444967G>A	uc001dum.3	-	31	2935	c.2617C>T	c.(2617-2619)Cca>Tca	p.P873S	COL11A1_uc001duk.3_Missense_Mutation_p.P57S|COL11A1_uc001dul.3_Missense_Mutation_p.P861S|COL11A1_uc001dun.3_Missense_Mutation_p.P822S|COL11A1_uc009weh.3_Missense_Mutation_p.P745S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	861	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)		TTGGCACCTGGAAACCCAGGG	0.353000														37			17		0	0	1	0	0
SLC10A7	84068	broad.mit.edu	37	4	147227087	147227087	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:147227087G>A	uc010ioz.2	-	6	800	c.546C>T	c.(544-546)atC>atT	p.I182I	SLC10A7_uc003ikr.2_Silent_p.I182I|SLC10A7_uc010ipa.2_Silent_p.I169I|SLC10A7_uc003iks.2_Non-coding_Transcript	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 7 (SLC10A7), transcript variant 2, mRNA.	182						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					CCTGTCCAATGATGAGAGGAA	0.358000														26			9		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367179	107367179	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107367179G>A	uc011lvq.2	-	0	730	c.730C>T	c.(730-732)Cat>Tat	p.H244Y		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ACAGTCAGATGGGCTGAACAG	0.413000														61			33		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44890982	44890982	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44890982C>T	uc010xxa.2	-	3	1489	c.1446G>A	c.(1444-1446)caG>caA	p.Q482Q	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Silent_p.Q475Q	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	768					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						TGTGAACTCTCTGATGAGTGT	0.403000														97			13		0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8073739	8073739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:8073739G>A	uc001aoz.3	-	3	1169	c.920C>T	c.(919-921)tCg>tTg	p.S307L	ERRFI1_uc001apa.1_Missense_Mutation_p.S232L	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.	307					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		ATAGGTGCTCGAAGTAACTTC	0.507000														137			58		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219868840	219868840	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219868840C>T	uc002vjl.1	-	32	5473	c.5389G>A	c.(5389-5391)Gag>Aag	p.E1797K	MIR375_uc010fvz.1_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1797	Glu-rich.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		tcctccttctcctctatctcc	0.567000														100			11		0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32498033	32498033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:32498033G>A	uc003amc.3	+	12	1724	c.1474G>A	c.(1474-1476)Gga>Aga	p.G492R	SLC5A1_uc011alz.2_Missense_Mutation_p.G365R	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	492					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						ACTGATCCTAGGACTTCTGAT	0.483000														58			26		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262543	158262543	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158262543T>C	uc001fru.3	+	3	1060	c.768T>C	c.(766-768)ccT>ccC	p.P256P	CD1C_uc021pbl.1_Non-coding_Transcript	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	256	Ig-like.				T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					ATATTCTTCCTAATGCTGATG	0.527000														95			44		0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6190872	6190872	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6190872G>A	uc010qzy.2	-	0	685	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGGCAAACGAAACACTGCT	0.478000														35			17		0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799331	45799331	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:45799331C>T	uc001jcc.1	-	3	849	c.540G>A	c.(538-540)ctG>ctA	p.L180L	OR13A1_uc001jcd.1_Silent_p.L176L|OR13A1_uc021ppq.1_Silent_p.L180L	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGCGCAGCATCAGCCCCGTGT	0.597000														58			27		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167012436	167012436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:167012436C>T	uc003irh.2	+	18	3246	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W	TLL1_uc011cjn.2_Missense_Mutation_p.R890W|TLL1_uc011cjo.2_Missense_Mutation_p.R691W	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	867	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R867W(2)		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)		AATGTTTGTTCGGTTTGTTTC	0.403000														69			30		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119737589	119737589	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:119737589G>A	uc004bjt.2	-	8	1735	c.1634C>T	c.(1633-1635)cCt>cTt	p.P545L	ASTN2_uc022bml.1_Missense_Mutation_p.P241L|ASTN2_uc022bmm.1_Missense_Mutation_p.P245L	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	596	EGF-like 1.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTTGCTGACAGGAAGCCAGAG	0.552000														47			15		0	0	1	0	0
SLC43A1	8501	broad.mit.edu	37	11	57261486	57261486	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57261486G>A	uc001nkk.3	-	7	969	c.851C>T	c.(850-852)aCc>aTc	p.T284I	SLC43A1_uc001nkl.3_Missense_Mutation_p.T284I	NM_001198810	NP_001185739	O75387	LAT3_HUMAN	Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA.	284					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GTTTTCTGAGGTGCCCCGAAC	0.577000											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			18		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	145001	145002	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:145001_145002CC>TT	uc003jak.2	+	3	853_854	c.803_804CC>TT	c.(802-804)gcc>gTT	p.A268V		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	268					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGTCCAGCTGCCCCTGCCGTCT	0.609000														36			15		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120998597	120998597	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:120998597C>T	uc010rzo.2	+	7	1911	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	637	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACCAGGGCTTCGTCCTCAGCA	0.657000														70			23		0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290858	141290858	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:141290858G>A	uc022cfj.1	-	0	916	c.916C>T	c.(916-918)Cat>Tat	p.H306Y	MAGEC2_uc004fbu.2_Missense_Mutation_p.H306Y	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	306	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTCTGAATGGGCTCTCGGA	0.468000										HNSCC(46;0.14)				39			39		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133044138	133044138	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133044138C>T	uc003ytg.2	-	10	1021	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	OC90_uc011lix.1_Missense_Mutation_p.D341N	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	357	Phospholipase A2-like 2.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CTGTCTAGGTCATCCCTTGGC	0.557000														19			9		0	0	1	0	0
C1orf222	339457	broad.mit.edu	37	1	1854837	1854837	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1854837C>T	uc001aik.3	-	7	1339	c.489G>A	c.(487-489)gcG>gcA	p.A163A	C1orf222_uc001ail.3_Silent_p.A163A			Q69YW0	CA222_HUMAN	RecName: Full=Uncharacterized protein C1orf222;	163										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ATACAGGGATCGCTGTCAGAG	0.662000														9			3		0	0	1	0	0
PDZK1IP1	10158	broad.mit.edu	37	1	47650692	47650692	+	Missense_Mutation	SNP	G	A	A	rs150391778		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47650692G>A	uc001cqw.3	-	2	421	c.254C>T	c.(253-255)tCg>tTg	p.S85L		NM_005764	NP_005755	Q13113	PDZ1I_HUMAN	Homo sapiens PDZK1 interacting protein 1 (PDZK1IP1), mRNA.	85						integral to membrane		p.S85S(1)		endometrium(1)|lung(1)|prostate(1)	3						GGCCGCCATCGAAGAGTACCT	0.602000														57			22		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70890626	70890626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:70890626C>T	uc021vjc.1	-	15	2377	c.2112G>A	c.(2110-2112)aaG>aaA	p.K704K	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_3'UTR|ADD2_uc002sgz.3_Silent_p.K704K	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	704	Interaction with calmodulin (Potential).				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCTTTTTCTTCTTTGAGGGAG	0.527000														233			119		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656476	40656476	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:40656476C>T	uc002rrx.3	-	0	969	c.945G>A	c.(943-945)agG>agA	p.R315R	SLC8A1_uc002rry.3_Silent_p.R315R|SLC8A1_uc002rsb.2_Silent_p.R315R|SLC8A1_uc002rrz.3_Silent_p.R315R|SLC8A1_uc002rsa.3_Silent_p.R315R|SLC8A1_uc002rsd.4_Silent_p.R315R|SLC8A1_uc010fan.1_Silent_p.R315R|SLC8A1_uc002rsc.1_Silent_p.R315R	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	315					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATCTTGGTCCCTCTCATCCA	0.408000														159			72		0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127484521	127484521	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:127484521C>T	uc003kus.3	+	11	2121	c.1957C>T	c.(1957-1959)Cgt>Tgt	p.R653C	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.R653C	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	653					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGAACCTCTTCGTGGCTACAT	0.323000														139			53		0	0	1	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066875	46066875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46066875C>T	uc002zfr.4	+	0	545	c.500C>T	c.(499-501)tCa>tTa	p.S167L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	161	25 X 5 AA repeats of C-C-X(3).					keratin filament		p.S166P(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						GATTCCTCTTCATGCTGCCAG	0.617000														253			63		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63011984	63011984	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:63011984C>T	uc002alb.4	+	21	2896	c.2896C>T	c.(2896-2898)Cct>Tct	p.P966S		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	966	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGATCACATCCCTCAGCTGGT	0.547000														15			23		0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74772585	74772585	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74772585G>A	uc002jta.2	+	12	2120	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	MFSD11_uc002jtd.4_Missense_Mutation_p.D383N|MFSD11_uc002jtb.3_Missense_Mutation_p.D383N|MFSD11_uc002jtc.3_Missense_Mutation_p.D383N|MFSD11_uc002jte.3_Missense_Mutation_p.D383N|MFSD11_uc010dhb.3_Missense_Mutation_p.D331N|MFSD11_uc010dha.3_Missense_Mutation_p.D331N	NM_001242534	NP_001229463	O43934	MFS11_HUMAN	Homo sapiens major facilitator superfamily domain containing 11 (MFSD11), transcript variant 3, mRNA.	383						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						GTATTCTGAAGACAGCGCCCC	0.453000														169			48		0	0	1	0	0
RMND5A	64795	broad.mit.edu	37	2	86980590	86980590	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:86980590C>T	uc002srr.2	+	3	807	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	RMND5A_uc002srs.4_Intron	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	Homo sapiens required for meiotic nuclear division 5 homolog A (S. cerevisiae) (RMND5A), mRNA.	144	LisH.									kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						GGAATCTGGTCTTTCTGTAGA	0.373000														96			45		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381519	81381519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:81381519C>T	uc003uhl.3	-	4	707	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	HGF_uc003uhm.3_Missense_Mutation_p.R176Q|HGF_uc003uhn.1_Missense_Mutation_p.R181Q|HGF_uc003uho.1_Missense_Mutation_p.R176Q|HGF_uc003uhp.3_Missense_Mutation_p.R181Q	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	181	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTCTTCCCCTCGAGGATTTCG	0.433000														93			20		0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270630	84270630	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84270630C>T	uc010voc.2	-	1	583	c.462G>A	c.(460-462)gaG>gaA	p.E154E	KCNG4_uc002fhu.1_Silent_p.E154E	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	154						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCAGGTGGGCCTCCTCGATGC	0.652000														40			18		0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615307	55615307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55615307C>T	uc010spf.2	+	0	499	c.499C>T	c.(499-501)Cct>Tct	p.P167S		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GATGGCCCTTCCTTTCTGTGG	0.478000														96			34		0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66811158	66811158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66811158C>T	uc009yrl.3	+	4	901	c.671C>T	c.(670-672)cCc>cTc	p.P224L	SYT12_uc001oju.3_Missense_Mutation_p.P224L	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	224	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TTCTCCATCCCCCTGGATCCC	0.567000														97			43		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141359	143141359	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143141359C>T	uc011ktg.2	+	0	814	c.814C>T	c.(814-816)Cca>Tca	p.P272S	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	272					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					AGGTATTTTTCCACCTCTGGA	0.488000														137			67		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74154189	74154189	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:74154189G>A	uc021ulp.1	-	2	1140	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGCCGTGGTCGAAGGAGCCCC	0.647000														31			14		0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959264	45959264	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45959264G>A	uc002zfh.1	-	0	815	c.770C>T	c.(769-771)tCc>tTc	p.S257F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	257	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGCCTGGCAGGAGGAGGCAGG	0.726000														50			18		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184101325	184101325	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:184101325G>A	uc003fov.3	+	11	1581	c.1335G>A	c.(1333-1335)ggG>ggA	p.G445G	CHRD_uc003fow.3_Silent_p.G75G|CHRD_uc003fox.3_Silent_p.G445G|CHRD_uc003foy.3_Silent_p.G75G|CHRD_uc010hyc.3_Intron|CHRD_uc011brr.2_Silent_p.G75G	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	445	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAGTGGTAGGGACAAGCAGTG	0.637000														42			9		0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38051317	38051317	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38051317C>T	uc003ati.3	+	17	2470	c.1732C>T	c.(1732-1734)Ccc>Tcc	p.P578S	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc003ath.1_Intron|SH3BP1_uc003atj.1_Intron|SH3BP1_uc003atk.1_Intron|AK097791_uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	578					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CATGCCGCCCCCCCAGGTCTC	0.721000														14			8		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463032	26463032	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:26463032C>T	uc001isn.2	+	29	4199	c.3839C>T	c.(3838-3840)tCc>tTc	p.S1280F	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1280					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATGAGACTTCCTTTAAAAAA	0.398000														40			16		0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10165979	10165979	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10165979G>A	uc010dwx.2	+	14		c.1842G>A								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CACCTCCAAGGGGAACCCAGG	0.592000														61			16		0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107956543	107956544	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:107956543_107956544CC>TT	uc003hyi.3	-	0	910_911	c.205_206GG>AA	c.(205-207)ggc>AAc	p.G69N	DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.G69N	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	69					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CAGGTTTTTGCCCTTCTTACTG	0.579000														77			11		0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57132039	57132039	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:57132039G>A	uc003dil.3	-	11	1781	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	IL17RD_uc003dik.3_Silent_p.F540F|IL17RD_uc010hna.3_Silent_p.F420F|IL17RD_uc011bex.1_Silent_p.F420F	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	564						Golgi membrane|integral to membrane|plasma membrane	receptor activity	p.F420F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GGAAGGGAACGAACTGCTTTT	0.527000														42			10		0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13182884	13182884	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:13182884G>A	uc003nah.2	+	6	1003	c.630G>A	c.(628-630)gaG>gaA	p.E210E	PHACTR1_uc011dir.2_Silent_p.E210E|PHACTR1_uc010jpc.3_Silent_p.E210E|PHACTR1_uc003nag.2_Silent_p.E210E	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	210						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCTCATATGAGGTGCTCCAAC	0.592000														94			7		0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97620289	97620289	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:97620289G>A	uc010qoj.2	+	7	1237	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	ENTPD1_uc001kli.4_Missense_Mutation_p.E387K|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Missense_Mutation_p.E272K|ENTPD1_uc010qol.2_Missense_Mutation_p.E272K|ENTPD1_uc001klh.4_Missense_Mutation_p.E380K|ENTPD1_uc010qom.2_Missense_Mutation_p.E339K|ENTPD1_uc010qon.2_Missense_Mutation_p.E242K|ENTPD1_uc009xva.3_Missense_Mutation_p.E242K	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	380					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AGTCTCTCAGGAAAAGGTGAC	0.433000														34			14		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130501159	130501160	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130501159_130501160CC>TT	uc004bsc.3	-	11	2590_2591	c.2448_2449GG>AA	c.(2446-2451)acggag>acAAag	p.E817K	SH2D3C_uc010mxo.3_Missense_Mutation_p.E657K|SH2D3C_uc004bry.3_Missense_Mutation_p.E659K|SH2D3C_uc004brz.4_Missense_Mutation_p.E463K|SH2D3C_uc011mak.2_Missense_Mutation_p.E463K|SH2D3C_uc004bsb.3_Missense_Mutation_p.E749K|SH2D3C_uc004bsa.3_Missense_Mutation_p.E660K	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	817	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATCTGGAACTCCGTGCTGAACA	0.644000														8			4		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578782	9578782	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9578782G>A	uc002mlp.1	-	9	1051	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	ZNF560_uc010dwr.1_Nonsense_Mutation_p.Q175*	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTCTGGACCTGAACATTTAAA	0.383000														98			40		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170076982	170076982	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170076982G>C	uc002ues.3	-	33	5843	c.5630C>G	c.(5629-5631)aCt>aGt	p.T1877S		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1877					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGATCAACAGTTATGCCAAT	0.418000														47			20		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33165256	33165256	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:33165256C>T	uc001wrq.3	+	8	3110	c.2940C>T	c.(2938-2940)tcC>tcT	p.S980S	AKAP6_uc010aml.3_Silent_p.S977S	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	980					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACATGGAGTCCCTTGTGATGG	0.468000														53			24		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179643770	179643770	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179643770C>T	uc021vsy.1	-	23	4264	c.4039G>A	c.(4039-4041)Gct>Act	p.A1347T	TTN_uc021vsz.1_Missense_Mutation_p.A1301T|TTN_uc021vta.1_Missense_Mutation_p.A1301T|TTN_uc021vtb.1_Missense_Mutation_p.A1301T|TTN_uc002unb.2_Missense_Mutation_p.A1347T|AK123298_uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1347	Ig-like 5.		A -> T (in a metastatic melanoma sample; somatic mutation).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A1301T(1)		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)			CGCAGACTAGCTCTGCCATCT	0.403000														57			14		0	0	1	0	0
FAM55B	120406	broad.mit.edu	37	11	114569186	114569186	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:114569186G>A	uc009yyy.2	+	2	650	c.552G>A	c.(550-552)gaG>gaA	p.E184E		NM_182495	NP_872301	Q96DL1	FA55B_HUMAN	Homo sapiens family with sequence similarity 55, member B (FAM55B), mRNA.	184						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|lung(6)|ovary(1)	14						TGTTCTGGGAGGGCCAGGTTT	0.547000														36			8		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49663097	49663097	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:49663097C>T	uc001jgu.3	-	5	1085	c.788G>A	c.(787-789)aGg>aAg	p.R263K	ARHGAP22_uc001jgs.3_Missense_Mutation_p.R157K|ARHGAP22_uc001jgt.3_Missense_Mutation_p.R247K|ARHGAP22_uc010qgl.2_Missense_Mutation_p.R204K|ARHGAP22_uc010qgm.2_Missense_Mutation_p.R253K|ARHGAP22_uc001jgv.3_Splice_Site	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	247	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCCTCGTACCTGGCGAAGGG	0.667000														22			6		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10788459	10788459	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:10788459G>A	uc002czz.1	-	0	344	c.272C>T	c.(271-273)cCc>cTc	p.P91L		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	91					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CCAGTCGTGGGGGCTATAGCG	0.672000														68			16		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167798579	167798579	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167798579G>A	uc001ger.3	-	25	3974	c.3676C>T	c.(3676-3678)Cac>Tac	p.H1226Y	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.H1073Y|ADCY10_uc009wvk.3_Missense_Mutation_p.H1134Y	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1226					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TACTTGCAGTGAAAAAGATAA	0.433000														110			30		0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51503250	51503250	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51503250G>A	uc001zyz.4	-	10	1518	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S	CYP19A1_uc001zza.4_Missense_Mutation_p.P423S	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	423					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TACCTATAAGGAACCTATGAA	0.443000														39			12		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38655202	38655202	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38655202C>T	uc002ohk.3	+	14	4373	c.3864C>T	c.(3862-3864)ttC>ttT	p.F1288F		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1288					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACCGCTGGTTCGACCCCCTGG	0.607000														93			9		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17596843	17596843	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17596843C>T	uc001bai.3	+	6	808	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	256					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCCTGTCCTTCCCTGATGCCG	0.582000														65			31		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84690161	84690161	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:84690161G>A	uc002bjz.4	+	26	4498	c.4274_splice	c.e26-1	p.E1425_splice	ADAMTSL3_uc010bmt.1_Splice_Site_p.E1425_splice	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1425	TSP type-1 8.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTTTCTGCAGAGCCTTTTTG	0.488000														206			13		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42154381	42154381	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42154381G>A	uc001zos.3	-	43	7723	c.7390C>T	c.(7390-7392)Cct>Tct	p.P2464S		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2499					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGGCTGCGAGGAGCGGGGCTC	0.622000														17			6		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105421934	105421934	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105421934C>T	uc010axc.1	-	4	472	c.352G>A	c.(352-354)Gag>Aag	p.E118K	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.E18K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	118	PDZ.					nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTCCACCTCTGTCTTCAGC	0.587000														53			24		0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65008433	65008433	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:65008433C>T	uc001xhj.3	+	1	942	c.866C>T	c.(865-867)tCg>tTg	p.S289L	HSPA2_uc001xhk.4_Missense_Mutation_p.S289L	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	289					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GAGATCGACTCGCTCTACGAG	0.667000														19			8		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104125	53104125	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:53104125C>T	uc003tpz.3	+	0	777	c.761C>T	c.(760-762)tCc>tTc	p.S254F		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	254								p.S254S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCTTGGCCTTCCGTGCTGGTC	0.637000														61			33		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57745960	57745960	+	Missense_Mutation	SNP	G	A	A	rs149480547		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:57745960G>A	uc010bfw.3	+	7	2327	c.2134G>A	c.(2134-2136)Gat>Aat	p.D712N	CGNL1_uc002aeg.3_Missense_Mutation_p.D712N	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	712						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGAAATGCACGATGAACTGGA	0.562000														34			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064299	9064299	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9064299G>A	uc002mkp.3	-	2	23351	c.23147C>T	c.(23146-23148)cCt>cTt	p.P7716L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7718	Ser-rich.|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						TGAAGTCACAGGAAGGGGAGA	0.547000														77			14		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915363	39915363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39915363C>T	uc010xuz.2	+	18	3915	c.3590C>T	c.(3589-3591)tCg>tTg	p.S1197L	PLEKHG2_uc010xuy.2_Missense_Mutation_p.S1138L|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.S975L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	1197					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCACACCTTCGTTGGAGCAG	0.572000														195			82		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169791926	169791926	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169791926C>T	uc002ueo.1	-	22	2950	c.2824G>A	c.(2824-2826)Gaa>Aaa	p.E942K	ABCB11_uc010zda.1_Missense_Mutation_p.E384K|ABCB11_uc010zdb.1_Missense_Mutation_p.E418K	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	942	ABC transmembrane type-1 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTGAGGGCTTCATTTGTAATC	0.448000														187			61		0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139274303	139274303	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139274303G>A	uc004chh.3	-	19	2522	c.2513C>T	c.(2512-2514)gCc>gTc	p.A838V		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	838					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGTGCTCTGGGCACTTGAGGA	0.602000														14			5		0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43023124	43023124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43023124C>T	uc002otv.3	-	4	1357	c.1222G>A	c.(1222-1224)Gac>Aac	p.D408N	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eii.3_Intron|CEACAM1_uc010eij.3_Missense_Mutation_p.D408N|CEACAM1_uc002otw.3_Missense_Mutation_p.D408N|CEACAM1_uc002otx.3_Intron|CEACAM1_uc002oty.3_Intron|CEACAM1_uc002otz.3_Intron|CEACAM1_uc010eik.3_Intron|CEACAM1_uc002oua.3_Missense_Mutation_p.D408N|CEACAM1_uc002oub.3_3'UTR	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	408	Ig-like C2-type 3.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ATGATGGGGTCGCTTTGGTTC	0.488000														125			22		0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46712010	46712010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:46712010C>T	uc011aqy.2	+	6	1345	c.1133C>T	c.(1132-1134)cCc>cTc	p.P378L	GTSE1_uc011aqz.2_Missense_Mutation_p.P225L|GTSE1_uc003bhl.1_Missense_Mutation_p.P3L|GTSE1_uc003bhm.1_Missense_Mutation_p.P3L	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	359					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGAATGGGACCCGCCATGCTG	0.567000														48			38		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81181901	81181901	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:81181901G>A	uc002fgh.1	-	28	4815	c.4815C>T	c.(4813-4815)ttC>ttT	p.F1605F	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1605					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTTGATGGGGAACATGAGGA	0.552000														39			15		0	0	1	0	0
PPYR1	5540	broad.mit.edu	37	10	47087792	47087792	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:47087792G>A	uc001jee.3	+	2	1428	c.1009G>A	c.(1009-1011)Gtg>Atg	p.V337M	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.V337M|PPYR1_uc021ppu.1_Missense_Mutation_p.V337M	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	337					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAAGGCCCTGGTGCTGACTTG	0.562000														120			18		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21235486	21235486	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21235486G>A	uc002red.3	-	25	4382	c.4254C>T	c.(4252-4254)ttC>ttT	p.F1418F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1418				F -> S (in Ref. 5; CAA28420).	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.T1417M(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)	ATGATAGTGTGAACGTATTCT	0.348000														67			28		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209797190	209797190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:209797190G>A	uc001hhg.3	-	13	2522	c.2132C>T	c.(2131-2133)cCt>cTt	p.P711L	LAMB3_uc009xco.3_Missense_Mutation_p.P711L|LAMB3_uc001hhh.3_Missense_Mutation_p.P711L|LAMB3_uc010psl.1_Non-coding_Transcript|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	711	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTCACCTGAAGGATCAGCACT	0.557000														73			38		0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88732726	88732726	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:88732726C>T	uc003hqx.4	+	6	716	c.618C>T	c.(616-618)gtC>gtT	p.V206V		NM_004967	NP_004958	P21815	SIAL_HUMAN	Homo sapiens integrin-binding sialoprotein (IBSP), mRNA.	206					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AAGAAAGTGTCACTGGAGCCA	0.537000														52			14		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55421210	55421210	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55421210C>T	uc001sgp.4	+	1	1365	c.987C>T	c.(985-987)ttC>ttT	p.F329F	NEUROD4_uc021qyr.1_Silent_p.F329F	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	329					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						ATACAGTCTTCACTGAGTGAG	0.428000														300			161		0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6862869	6862869	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:6862869G>A	uc003gjr.4	+	6	1223	c.760G>A	c.(760-762)Gag>Aag	p.E254K	KIAA0232_uc003gjq.4_Missense_Mutation_p.E254K	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	254							ATP binding	p.N253Y(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AAGCAAAAACGAGAAGGAAAA	0.428000														72			12		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1268745	1268745	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1268745G>A	uc003jcb.1	-	8	2530	c.2472C>T	c.(2470-2472)tcC>tcT	p.S824S	TERT_uc003jbz.1_Silent_p.S20S|TERT_uc003jcc.1_Silent_p.S824S|TERT_uc003jca.1_Silent_p.S812S|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_5'UTR	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	824	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACTGGACGTAGGACCTGGGGC	0.602000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					41			10		0	0	1	0	0
MRPS35	60488	broad.mit.edu	37	12	27872744	27872744	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:27872744C>T	uc001rih.3	+	3	396	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S	MRPS35_uc001rii.3_Missense_Mutation_p.P109S	NM_021821	NP_068593	P82673	RT35_HUMAN	Homo sapiens mitochondrial ribosomal protein S35 (MRPS35), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	109					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					ATTTAAGATTCCCAATTTTCT	0.274000														67			15		0	0	1	0	0
C4orf33	132321	broad.mit.edu	37	4	130023817	130023817	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:130023817C>T	uc003igu.4	+	1	416	c.52C>T	c.(52-54)Ccc>Tcc	p.P18S	C4orf33_uc010ioc.1_Missense_Mutation_p.P18S|C4orf33_uc010iod.3_Missense_Mutation_p.P18S	NM_173487	NP_775758	Q8N1A6	CD033_HUMAN	Homo sapiens chromosome 4 open reading frame 33 (C4orf33), transcript variant 1, mRNA.	18										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GAAGCATGAGCCCGTATTTAT	0.398000														83			20		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211093356	211093356	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:211093356C>T	uc001hib.2	-	6	1258	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	KCNH1_uc001hic.2_Missense_Mutation_p.R336Q	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	363					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.R363Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACGGGCCACTCGCCCAAGACG	0.562000														111			21		0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73104007	73104007	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73104007C>A	uc001jrr.4	+	2	399	c.342C>A	c.(340-342)ccC>ccA	p.P114P	SLC29A3_uc001jrs.4_Silent_p.P114P|SLC29A3_uc010qjq.2_Intron|SLC29A3_uc001jrt.4_Intron	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	114					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CCACCGTGCCCTCCATGCTGT	0.587000														64			25		2.41591e-17	2.42841e-17	1	1	0
CYP4Z1	199974	broad.mit.edu	37	1	47560332	47560332	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47560332G>A	uc001cqu.1	+	6	870	c.867G>A	c.(865-867)ttG>ttA	p.L289L		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	289						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ACATACTTTTGAGTGCCAAAG	0.398000														51			17		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92191472	92191472	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:92191472G>A	uc001xzs.1	-	2	260	c.120C>T	c.(118-120)ttC>ttT	p.F40F		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	40					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TCTCTTGAGGGAACCCTTTGT	0.313000														34			14		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680643	128680643	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:128680643G>A	uc010sbu.2	+	8	1462	c.1119G>A	c.(1117-1119)ccG>ccA	p.P373P	FLI1_uc010sbt.2_Silent_p.P180P|FLI1_uc010sbv.2_Silent_p.P340P|FLI1_uc009zci.3_Silent_p.P307P	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	373					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AGCCACATCCGACCGAGTCGT	0.478000			T	EWSR1	Ewing sarcoma									40			10		0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46753846	46753846	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46753846G>A	uc003cqe.1	-	5	1530	c.1048C>T	c.(1048-1050)Caa>Taa	p.Q350*	PRSS50_uc021wxe.1_Nonsense_Mutation_p.Q350*|PRSS50_uc003cqf.2_Nonsense_Mutation_p.Q264*	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	350	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						ATCCAGTGTTGGTAGGAGGAG	0.657000														25			6		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63059013	63059013	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63059013G>A	uc009yor.3	+	2	611	c.403_splice	c.e2-1	p.W135_splice	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Splice_Site|SLC22A10_uc010rmp.1_Splice_Site_p.W83_splice	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	135						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCTTCCAGTGGGACCTGGTA	0.468000														44			16		0	0	1	0	0
PTGDS	5730	broad.mit.edu	37	9	139873732	139873732	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139873732C>T	uc004cke.3	+	2	1342	c.312C>T	c.(310-312)tcC>tcT	p.S104S	PTGDS_uc004ckd.3_Non-coding_Transcript	NM_000954	NP_000945	P41222	PTGDS_HUMAN	Homo sapiens prostaglandin D2 synthase 21kDa (brain) (PTGDS), mRNA.	104					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCTCGGCTCCTACAGCTACC	0.701000														78			28		0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38311470	38311470	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:38311470C>T	uc001wuj.3	+	13	1927	c.1825C>T	c.(1825-1827)Ctt>Ttt	p.L609F	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.L512F|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		AGCACTTGATCTTGAAGACTA	0.363000														98			39		0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24579067	24579067	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:24579067G>A	uc002zzn.1	+	1	163	c.119G>A	c.(118-120)gGg>gAg	p.G40E		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	40	SMB.				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						GCCCTGGACGGGCCATGTTCC	0.632000														182			18		0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25811976	25811976	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:25811976G>A	uc003nfh.4	-	8	1036	c.920C>T	c.(919-921)cCc>cTc	p.P307L	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Missense_Mutation_p.P307L|SLC17A1_uc010jqc.1_Missense_Mutation_p.P251L	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	307					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						AAACAAATAGGGAAGGGAAGA	0.433000														86			19		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96962966	96962966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:96962966C>T	uc010how.1	+	4	1484	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	EPHA6_uc003drp.1_Missense_Mutation_p.R481C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	386	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						TGGAGGACTCCGCTTCATCCC	0.448000														46			19		0	0	1	0	0
COQ3	51805	broad.mit.edu	37	6	99819417	99819417	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:99819417G>A	uc003ppk.3	-	5	803	c.776C>T	c.(775-777)tCc>tTc	p.S259F		NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN	Homo sapiens coenzyme Q3 homolog, methyltransferase (S. cerevisiae) (COQ3), mRNA.	259					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		CAAGGCATAGGAAAGTTGTGT	0.338000														30			23		0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27018589	27018589	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:27018589G>A	uc003acz.4	+	1	64	c.29G>A	c.(28-30)gGa>gAa	p.G10E		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	10	N-terminal arm.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						AAGTCAGCGGGACCCTGGAAG	0.542000														62			7		0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519041	53519041	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:53519041C>T	uc003pcb.4	-	1	1171	c.1030G>A	c.(1030-1032)Gga>Aga	p.G344R		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TTGCTCCATCCATTTTCAGGG	0.498000														79			28		0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79441966	79441966	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:79441966G>A	uc011ctj.2	-	10	1342	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	SERINC5_uc003kgj.3_Silent_p.F395F|SERINC5_uc003kgm.3_Silent_p.F395F|SERINC5_uc003kgk.3_Silent_p.F393F|SERINC5_uc003kgl.3_Non-coding_Transcript	NM_001174072	NP_001167543	Q86VE9	SERC5_HUMAN	Homo sapiens serine incorporator 5 (SERINC5), transcript variant 1, mRNA.	395					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GGAAGAACACGAAGTGGAAGT	0.488000														173			25		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048690	42048690	+	Silent	SNP	G	A	A	rs35586296		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:42048690G>A	uc001cgz.4	-	3	2992	c.1779C>T	c.(1777-1779)atC>atT	p.I593I	HIVEP3_uc001cha.4_Silent_p.I593I|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	593	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AAGGTAATTCGATTGCCGGCT	0.582000														88			29		0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121107034	121107034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:121107034G>A	uc002tmn.2	+	1	854	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	270					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CCCAGGCGAAGAGTCGCACCG	0.672000														81			36		0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103564043	103564043	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:103564043G>A	uc003ykt.2	+	0	196	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	30					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			ATGCATCGACGAATTTAGCAC	0.493000														143			53		0	0	1	0	0
CCDC164	92749	broad.mit.edu	37	2	26676280	26676281	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:26676280_26676281GG>AA	uc002rhg.2	+	13	1856_1857	c.1782_1783GG>AA	c.(1780-1785)atggag>atAAag	p.594_595ME>IK		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	594	Glu-rich.									cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						agacggagatggagggagaaaa	0.569000														69			28		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45679538	45679538	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45679538C>T	uc002zeg.1	-	3	692	c.208G>A	c.(208-210)Gga>Aga	p.G70R	DNMT3L_uc002zeh.1_Missense_Mutation_p.G70R	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	70	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CAGATCCCTCCCTCAAACAGA	0.552000														25			7		0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20181577	20181577	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:20181577G>A	uc021qez.1	-	0	294	c.291C>T	c.(289-291)gcC>gcT	p.A97A	DBX1_uc021qey.1_Silent_p.A98A	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	Homo sapiens developing brain homeobox 1 (DBX1), mRNA.	98					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T97T(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CAGGGGAGAAGGCAGTCGGCG	0.706000														8			5		0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117100449	117100449	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:117100449G>A	uc001pqr.3	-	2	313	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	RNF214_uc001pqt.3_5'Flank	NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	38					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTCCCTGCCAGGCCCATGACC	0.652000			T	IGH@	MLCLS									29			11		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184299059	184299059	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:184299059G>A	uc003foz.3	+	14	3188	c.2751G>A	c.(2749-2751)ctG>ctA	p.L917L		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	917						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGCCCCTCCTGGACCGCACGG	0.577000														110			45		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6896430	6896430	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6896430C>T	uc002mfw.3	+	2	154	c.116C>T	c.(115-117)aCc>aTc	p.T39I	EMR1_uc010dvc.3_Missense_Mutation_p.T39I|EMR1_uc010dvb.3_Missense_Mutation_p.T39I|EMR1_uc010xji.2_Missense_Mutation_p.T39I|EMR1_uc010xjj.2_Missense_Mutation_p.T39I	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	39	EGF-like 1.				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)					AGAGACAGTACCTTGTGCCCA	0.453000														171			31		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802134	185802134	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:185802134G>A	uc002uph.3	+	3	2605	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	671						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGTGACAATGAAGAAATGTG	0.313000														94			28		0	0	1	0	0
SNX15	29907	broad.mit.edu	37	11	64803081	64803081	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64803081C>T	uc001oci.4	+	8	1264	c.610C>T	c.(610-612)Cga>Tga	p.R204*	SNX15_uc001ock.3_Nonsense_Mutation_p.R204*	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.	204					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TTCCCCTGCCCGAGGCCCCCT	0.637000														147			54		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675455	62675455	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62675455G>A	uc021ooc.1	+	5	1444	c.1009_splice	c.e5-1	p.D337_splice	L1TD1_uc001dae.4_Splice_Site_p.D337_splice	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	337										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TAACTTTCAGGATAAAACCCT	0.294000														79			19		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60814282	60814282	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:60814282C>T	uc010dds.3	-	6	1346	c.1061G>A	c.(1060-1062)aGa>aAa	p.R354K	MARCH10_uc010ddr.3_Missense_Mutation_p.R316K|MARCH10_uc002jag.4_Missense_Mutation_p.R316K|MARCH10_uc002jah.2_Missense_Mutation_p.R315K|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	316							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AAATCTACTTCTTTTGTGATG	0.453000														311			114		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154886389	154886389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:154886389C>T	uc010hvr.1	+	18	2100	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F	MME_uc003fab.1_Missense_Mutation_p.S630F|MME_uc003fac.1_Missense_Mutation_p.S630F|MME_uc003fad.1_Missense_Mutation_p.S630F|MME_uc003fae.1_Missense_Mutation_p.S630F	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	630					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GGAAACTTTTCCTGGGACCTG	0.403000														101			38		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43351577	43351577	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:43351577C>T	uc003tid.1	+	3	848	c.243C>T	c.(241-243)ctC>ctT	p.L81L	HECW1_uc011kbi.1_Silent_p.L81L|HECW1_uc003tie.1_Silent_p.L113L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	81					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCTCCACGCTCATGGTCAGCA	0.612000														73			21		0	0	1	0	0
NACC2	138151	broad.mit.edu	37	9	138903368	138903368	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:138903368G>A	uc004cgv.4	-	5	1914	c.1758C>T	c.(1756-1758)acC>acT	p.T586T	NACC2_uc010nbh.3_Silent_p.T225T	NM_144653	NP_653254	Q96BF6	NACC2_HUMAN	Homo sapiens NACC family member 2, BEN and BTB (POZ) domain containing (NACC2), mRNA.	586					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						CCGCTTACAAGGTCCCTGCAT	0.647000														48			30		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897082	36897082	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36897082C>T	uc003cgj.3	-	11	4247	c.3999G>A	c.(3997-3999)ggG>ggA	p.G1333G		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1333					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACCGTTTCCTCCCTAATTTCT	0.428000														110			43		0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54040554	54040554	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:54040554C>T	uc001jjm.3	+	12	1592	c.1364C>T	c.(1363-1365)tCg>tTg	p.S455L	PRKG1_uc001jjo.3_Missense_Mutation_p.S470L|PRKG1_uc009xow.2_Missense_Mutation_p.S173L|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	455	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)		CTCAGAGGTTCGTTTGAAGAT	0.343000														84			25		0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43670062	43670062	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43670062C>T	uc001zro.3	+	4	642	c.402C>T	c.(400-402)ccC>ccT	p.P134P	TUBGCP4_uc001zrn.3_Silent_p.P134P|TUBGCP4_uc010bdh.3_Non-coding_Transcript	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	134					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TTCTTTTTCCCTCTGTGATGG	0.323000														103			29		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10104446	10104446	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10104446C>T	uc002mmq.1	-	16	1710	c.1624G>A	c.(1624-1626)Ggg>Agg	p.G542R		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	542	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.G542R(2)		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)			CCAGTGTCCCCTGGGAGGCCC	0.582000														98			41		0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11568980	11568980	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11568980C>T	uc002mry.1	-	4	989	c.609G>A	c.(607-609)gcG>gcA	p.A203A	ELAVL3_uc002mrx.1_Silent_p.A203A	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	203	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	p.A203A(2)|p.A203T(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TTGGGTTGTTCGCGAACTTGA	0.602000														64			29		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921487	24921487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24921487G>A	uc001ywo.3	+	0	947	c.473G>A	c.(472-474)aGa>aAa	p.R158K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	158					cell differentiation|multicellular organismal development|spermatogenesis			p.P157P(1)		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)		GAAGGGCCCAGAAGAGTGAAG	0.617000														37			12		0	0	1	0	0
GOLPH3	64083	broad.mit.edu	37	5	32126481	32126481	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:32126481G>A	uc003jhp.1	-	3	1019	c.734C>T	c.(733-735)gCc>gTc	p.A245V		NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN	Homo sapiens golgi phosphoprotein 3 (coat-protein) (GOLPH3), mRNA.	245					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	Golgi cisterna membrane|cytosol|endosome|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GACGTCCGAGGCATGAGCCAG	0.537000														70			34		0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109283259	109283259	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:109283259G>A	uc001tnr.4	+	3	995	c.324G>A	c.(322-324)aaG>aaA	p.K108K	DAO_uc001tnq.4_Intron|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	108					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CTTCCTGGAAGGACACAGTTC	0.537000														65			18		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000345	16000345	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16000345G>T	uc002nbs.1	-	6	856	c.806C>A	c.(805-807)gCc>gAc	p.A269D	CYP4F2_uc010xot.1_Missense_Mutation_p.A120D|CYP4F2_uc010xou.1_Missense_Mutation_p.A120D	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	269			A -> D (in dbSNP:rs1805040).		leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.A269V(2)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGGATGACGGCATCTGTGAA	0.557000														188			16		1.10923e-09	1.11304e-09	1	1	0
ITPK1	3705	broad.mit.edu	37	14	93483112	93483113	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:93483112_93483113GG>AA	uc001ybg.3	-	3	443_444	c.154_155CC>TT	c.(154-156)ccc>TTc	p.P52F	ITPK1_uc001ybe.2_Missense_Mutation_p.P52F|ITPK1_uc001ybf.3_5'UTR|ITPK1_uc001ybh.3_Missense_Mutation_p.P52F	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	Homo sapiens inositol-tetrakisphosphate 1-kinase (ITPK1), transcript variant 1, mRNA.	52					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GACGTCCAGGGGGCCCTGCTCC	0.574000														81			22		0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20034416	20034416	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:20034416C>T	uc010nfo.2	-	10	1557	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K	MAP7D2_uc004czq.2_Silent_p.K324K|MAP7D2_uc011mji.2_Silent_p.K387K|MAP7D2_uc004czr.2_Silent_p.K439K|MAP7D2_uc011mjj.2_Silent_p.K394K	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	439										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						cctcctctgcctttcttttca	0.463000														10			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066331	9066331	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9066331A>T	uc002mkp.3	-	2	21319	c.21115T>A	c.(21115-21117)Tct>Act	p.S7039T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7041	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						TGTGAGGTAGACCCAGAAGGA	0.483000														140			52		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226032	158226033	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158226032_158226033GG>AA	uc001frt.3	+	2	1097_1098	c.564_565GG>AA	c.(562-567)ttgggt>ttAAgt	p.G189S	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	189	Ig-like.				antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GTTTCATCTTGGGTCTTCTTGA	0.460000														86			17		0	0	1	0	0
FAM124B	79843	broad.mit.edu	37	2	225265794	225265794	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:225265794C>T	uc002vnx.3	-	0	918	c.692G>A	c.(691-693)tGg>tAg	p.W231*	FAM124B_uc002vnw.3_Nonsense_Mutation_p.W231*	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.	231							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CTGAGTCTGCCACCTGGTGCT	0.488000														75			23		0	0	1	0	0
DMRT1	1761	broad.mit.edu	37	9	916880	916880	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:916880C>T	uc003zgv.3	+	3	1089	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S		NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 1 (DMRT1), mRNA.	314					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		TGAGGATGCTCCCTCTTACCC	0.557000														79			8		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586491	15586491	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15586491G>A	uc002nbg.3	-	1	1123	c.990C>T	c.(988-990)tcC>tcT	p.S330S	PGLYRP2_uc002nbf.4_Silent_p.S330S	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	330					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGGCCAGGATGGAGGCTGAAG	0.617000														40			16		0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458788	248458788	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248458788G>A	uc010pzj.2	-	0	93	c.93C>T	c.(91-93)gcC>gcT	p.A31A		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	31					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)			TCAAAACGGTGGCCAGAAGCA	0.493000														176			19		0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95058564	95058564	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:95058564G>A	uc001ydm.2	+	5	1419	c.1209G>A	c.(1207-1209)gtG>gtA	p.V403V	SERPINA3_uc001ydo.4_Intron	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	403					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TTGGCAAAGTGAACCGCCCCT	0.532000														258			117		0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41059569	41059569	+	Missense_Mutation	SNP	G	A	A	rs104894568		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:41059569G>A	uc002icb.1	+	2	449	c.370G>A	c.(370-372)Gca>Aca	p.A124T	G6PC_uc010whf.1_Intron	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	124			A -> T (in GSD1A).		gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CATGGGCACAGCAGGTGTATA	0.498000														29			20		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43808945	43808945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:43808945G>A	uc002rsw.4	-	7	1008	c.656C>T	c.(655-657)tCc>tTc	p.S219F	THADA_uc002rsx.4_Missense_Mutation_p.S219F|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc002rsz.3_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.S219F|THADA_uc002rtc.4_Missense_Mutation_p.S219F|THADA_uc002rtd.3_Missense_Mutation_p.S219F	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	219							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GGGAGAATCGGAAGTCTTCCA	0.333000														73			18		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45472166	45472166	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45472166C>T	uc002zea.3	+	3	460	c.291C>T	c.(289-291)acC>acT	p.T97T	TRAPPC10_uc010gpo.3_5'UTR|TRAPPC10_uc002zdz.3_Silent_p.T97T	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	97					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TTTAGGATACCGAAGTGTATA	0.398000														117			8		0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59728228	59728228	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:59728228G>A	uc003xtw.1	-	6	1282	c.1061C>T	c.(1060-1062)tCg>tTg	p.S354L		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	354						nucleus	DNA binding	p.S354L(4)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CGACGGCTTCGAATTGATCAG	0.522000														52			14		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952897	119952897	+	Silent	SNP	C	T	T	rs145945905		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:119952897C>T	uc010inb.3	+	3	3163	c.2967C>T	c.(2965-2967)ccC>ccT	p.P989P	SYNPO2_uc010ina.3_Silent_p.P989P|SYNPO2_uc003icm.4_Silent_p.P989P|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Silent_p.P917P|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	989						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATGGCCTCCCCCAGAAGTCAT	0.512000														60			5		0	0	1	0	0
KIF2A	3796	broad.mit.edu	37	5	61654077	61654077	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:61654077C>T	uc003jsy.4	+	8	1134	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	KIF2A_uc003jsz.4_Missense_Mutation_p.R275C|KIF2A_uc003jsx.4_Missense_Mutation_p.R255C|KIF2A_uc010iwp.3_Missense_Mutation_p.R256C|KIF2A_uc010iwq.3_Missense_Mutation_p.R78C	NM_004520	NP_004511	O00139	KIF2A_HUMAN	Homo sapiens kinesin heavy chain member 2A (KIF2A), transcript variant 1, mRNA.	275	Kinesin-motor.				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding	p.R275C(1)|p.R248C(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		CCAAACATTTCGTTTTGATTA	0.323000														42			8		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	31010117	31010117	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:31010117C>T	uc021vfn.1	-	0	107	c.75G>A	c.(73-75)cgG>cgA	p.R25R	CAPN13_uc021vfm.1_Silent_p.R25R|CAPN13_uc002rnp.1_Silent_p.R25R	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	25					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.R25Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GGCAGTGATCCCGCAAGGTGG	0.522000														21			9		0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406911	148406911	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:148406911G>A	uc003lpu.3	-	10	2536	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Missense_Mutation_p.S439F|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Missense_Mutation_p.S342F|SH3TC2_uc010jgx.3_Missense_Mutation_p.S788F|SH3TC2_uc003lpv.1_Missense_Mutation_p.S342F|SH3TC2_uc011dbz.1_Missense_Mutation_p.S680F	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	795							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACTCAAAGGATTCCTGCTC	0.567000														89			11		0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135389715	135389715	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:135389715C>T	uc003lbf.4	+	8	1371	c.1210C>T	c.(1210-1212)Ctc>Ttc	p.L404F	TGFBI_uc003lbg.4_Missense_Mutation_p.L137F|TGFBI_uc003lbh.4_Missense_Mutation_p.L230F|TGFBI_uc011cyb.2_Missense_Mutation_p.L230F	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	404	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGCAATCATCTCTCTGGAAG	0.507000														126			31		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173189	126173189	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:126173189G>A	uc003vlr.2	-	7	2558	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.L749L|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	749					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GTGAACAAATGAGTGAGAGAT	0.463000										HNSCC(24;0.065)				41			9		0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72338188	72338188	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:72338188C>T	uc009zrw.1	+	2	511	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	TPH2_uc001swy.2_Nonsense_Mutation_p.Q34*	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	124	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.I123T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TGAGCTCATTCAGTTGCTGAA	0.433000														117			28		0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160994281	160994281	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:160994281C>T	uc002ubh.2	-	9	1339	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	ITGB6_uc010fou.2_Missense_Mutation_p.D442N|ITGB6_uc010zcq.1_Missense_Mutation_p.D400N|ITGB6_uc010fov.1_Missense_Mutation_p.D442N	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	442					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCCAGGGCATCCCCCAGCCCC	0.493000														75			7		0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887759	47887759	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:47887759G>A	uc002xui.3	-	2	837	c.590C>T	c.(589-591)tCc>tTc	p.S197F		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	197							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATCCATTTTGGAGCTACAAGC	0.448000														118			39		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108819293	108819293	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108819293G>A	uc003dxl.3	-	4	372	c.285C>T	c.(283-285)ttC>ttT	p.F95F	MORC1_uc011bhn.2_Silent_p.F95F	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	95					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATTGCCCTATGAACTTCAAGG	0.363000														134			54		0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43314241	43314241	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:43314241C>T	uc010dnk.3	+	5	734	c.512C>T	c.(511-513)tCa>tTa	p.S171L	SLC14A1_uc002lbi.4_5'UTR|SLC14A1_uc010xcn.2_Missense_Mutation_p.S115L|SLC14A1_uc002lbf.4_Missense_Mutation_p.S115L|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Missense_Mutation_p.S10L|SLC14A1_uc002lbh.4_Missense_Mutation_p.S7L|SLC14A1_uc002lbj.4_Missense_Mutation_p.S171L|SLC14A1_uc002lbk.4_Missense_Mutation_p.S115L|SLC14A1_uc021ujg.1_Missense_Mutation_p.S115L	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	115			W -> R (in dbSNP:rs9948825).			integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCCCACAGGTCATTAATAGCA	0.463000														112			48		0	0	1	0	0
TRIL	9865	broad.mit.edu	37	7	28996398	28996398	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:28996398G>A	uc003szt.3	-	2	1629	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F	DQ601810_uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	Homo sapiens TLR4 interactor with leucine-rich repeats (TRIL), mRNA.	422					inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										AGCGGTCAGGGAAGCTGAGGG	0.687000														69			18		0	0	1	0	0
GSN	2934	broad.mit.edu	37	9	124080952	124080952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:124080952C>T	uc004blf.1	+	8	1199	c.1138C>T	c.(1138-1140)Ctt>Ttt	p.L380F	GSN_uc004bld.1_Missense_Mutation_p.L329F|GSN_uc010mvr.1_Missense_Mutation_p.L340F|GSN_uc010mvq.1_Missense_Mutation_p.L340F|GSN_uc010mvu.1_Missense_Mutation_p.L329F|GSN_uc010mvt.1_Missense_Mutation_p.L329F|GSN_uc010mvs.1_Missense_Mutation_p.L329F|GSN_uc004ble.1_Missense_Mutation_p.L329F|GSN_uc010mvv.1_Missense_Mutation_p.L329F|GSN_uc011lyh.1_Missense_Mutation_p.L346F|GSN_uc011lyi.1_Missense_Mutation_p.L329F|GSN_uc011lyj.1_Missense_Mutation_p.L353F|GSN_uc004blg.1_Missense_Mutation_p.L111F	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	380					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GGTCTCGGTCCTTCCTGAGGG	0.632000														51			18		0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	711134	711134	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:711134C>T	uc003zgl.1	+	6	1017	c.368C>T	c.(367-369)cCc>cTc	p.P123L	KANK1_uc003zgm.3_Missense_Mutation_p.P123L|KANK1_uc003zgn.1_Missense_Mutation_p.P123L|KANK1_uc003zgo.1_Missense_Mutation_p.P123L|KANK1_uc003zgp.1_Missense_Mutation_p.P123L|KANK1_uc003zgq.2_5'UTR|KANK1_uc003zgr.1_5'UTR|KANK1_uc003zgs.1_5'UTR	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	123					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AAGCCACCTCCCCCTCTGGAG	0.502000														57			54		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933552	44933552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44933552C>T	uc002oze.1	-	5	1838	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K	ZNF229_uc010ejk.1_Silent_p.K122K|ZNF229_uc010ejl.1_Silent_p.K462K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGCTGAATCCCTTTCCACACT	0.552000														58			19		0	0	1	0	0
INSL6	11172	broad.mit.edu	37	9	5185414	5185414	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:5185414C>T	uc003zix.3	-	0	205	c.189G>A	c.(187-189)cgG>cgA	p.R63R		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	63						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GTGCAATCAACCGTGAGAAAG	0.572000														86			48		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323637	152323637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152323637C>T	uc001ezw.4	-	2	6698	c.6625G>A	c.(6625-6627)Gga>Aga	p.G2209R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2209							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)			CCTGACTGTCCATGTCGAGAT	0.507000														468			41		0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102965001	102965001	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:102965001C>T	uc003hvy.4	+	10	2180	c.1906C>T	c.(1906-1908)Caa>Taa	p.Q636*	BANK1_uc003hvx.4_Nonsense_Mutation_p.Q621*|BANK1_uc010ill.3_Nonsense_Mutation_p.Q503*|BANK1_uc003hvz.4_Nonsense_Mutation_p.Q606*	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	636					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TACAGTGTTTCAACAAAAGAC	0.328000														153			73		0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19822386	19822386	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19822386G>A	uc002nnk.1	-	3	1858	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F		NM_021030	NP_066358	P17017	ZNF14_HUMAN	Homo sapiens zinc finger protein 14 (ZNF14), mRNA.	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TGGAAGAAATGAAGGCTTTTC	0.413000														69			29		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46243823	46243823	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:46243823C>T	uc001ros.1	+	14	1917	c.1917C>T	c.(1915-1917)atC>atT	p.I639I	ARID2_uc001ror.3_Silent_p.I639I|ARID2_uc009zkg.1_Silent_p.I95I|ARID2_uc009zkh.1_Silent_p.I266I|ARID2_uc001rou.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	639					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTCAGGAATCCCTCATGGAT	0.338000			"""N, S, F"""		hepatocellular carcinoma									54			36		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23177458	23177458	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:23177458G>A	uc003xdh.1	-	7	1749	c.1410C>T	c.(1408-1410)atC>atT	p.I470I	LOXL2_uc010lty.1_Silent_p.I9I	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	470	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TGGCCTCCACGATGCCCCAGT	0.657000														59			27		0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231335984	231335984	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:231335984G>A	uc009xfn.1	+	3	1396	c.1354G>A	c.(1354-1356)Gac>Aac	p.D452N		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	452	COS.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CAAGGAGAACGACCCCTCCGG	0.542000														79			33		0	0	1	0	0
GALR1	2587	broad.mit.edu	37	18	74968155	74968155	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:74968155G>A	uc002lms.4	+	1	1205	c.708G>A	c.(706-708)aaG>aaA	p.K236K		NM_001480	NP_001471	P47211	GALR1_HUMAN	Homo sapiens galanin receptor 1 (GALR1), mRNA.	236					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		ACATGTCAAAGAAGTCTGAAG	0.348000														74			25		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147113688	147113688	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:147113688C>T	uc011bno.2	-	2	975	c.789G>A	c.(787-789)aaG>aaA	p.K263K	ZIC4_uc003ewc.2_Silent_p.K143K|ZIC4_uc021xff.1_Silent_p.K251K|ZIC4_uc003ewd.2_Silent_p.K213K|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	213						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TAGCAAAGACCTTCCCACACC	0.537000														100			41		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940423	144940423	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144940423C>T	uc003zaa.1	-	0	7012	c.6999G>A	c.(6997-6999)gaG>gaA	p.E2333E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2333						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.R2332R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGATGCCGTGCTCCCGGACGA	0.711000														339			24		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590255	140590255	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140590255G>A	uc003liz.3	+	0	1965	c.1776G>A	c.(1774-1776)gtG>gtA	p.V592V	PCDHB12_uc011dak.2_Silent_p.V255V	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	592	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGCGGTGGACGGTGACT	0.701000														301			15		0	0	1	0	0
EAPP	55837	broad.mit.edu	37	14	35005444	35005444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:35005444G>A	uc001wsd.1	-	1	221	c.112C>T	c.(112-114)Cct>Tct	p.P38S		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA.	38					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TTTTGGTCAGGAGTTCCATGT	0.318000														42			20		0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48036926	48036926	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:48036926G>A	uc003gxw.3	+	4	556	c.490G>A	c.(490-492)Gag>Aag	p.E164K		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	164						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						CTTTTTAAACGAGCACTTGAA	0.378000														68			36		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10894144	10894144	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:10894144G>A	uc003mzo.3	+	2	419	c.123G>A	c.(121-123)caG>caA	p.Q41Q	SYCP2L_uc011dim.1_Non-coding_Transcript	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	41						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)			AAGGATTTCAGAAAATAAAAG	0.308000														30			4		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45695845	45695845	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:45695845C>T	uc003jok.3	-	0	376	c.351G>A	c.(349-351)caG>caA	p.Q117Q		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	117	Involved in subunit assembly (By similarity).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CCACCGCCTTCTGGCTCCCAA	0.602000														59			15		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51758498	51758499	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51758498_51758499GG>AA	uc010ufy.2	-	29	7627_7628	c.7402_7403CC>TT	c.(7402-7404)cct>TTt	p.P2468F	DMXL2_uc002abd.3_Missense_Mutation_p.P538F|DMXL2_uc002abf.3_Missense_Mutation_p.P2467F|DMXL2_uc010bfa.3_Missense_Mutation_p.P1831F	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2467						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATCAGACAAAGGAAGAAATGGC	0.243000														84			28		0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44030298	44030298	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:44030298C>T	uc002lcb.1	+	4	706	c.655C>T	c.(655-657)Cac>Tac	p.H219Y	RNF165_uc002lby.1_Missense_Mutation_p.H152Y|RNF165_uc010dnn.1_Missense_Mutation_p.H15Y	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	219							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CCCTCAGCTTCACTTCCTTGC	0.522000														100			20		0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41083492	41083492	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41083492C>T	uc002oob.3	+	3	265	c.216C>T	c.(214-216)ttC>ttT	p.F72F	SHKBP1_uc002ooc.3_Silent_p.F72F|SHKBP1_uc010xvl.1_Missense_Mutation_p.S15L|SHKBP1_uc002ooe.3_5'UTR|SHKBP1_uc010xvm.2_5'Flank|SHKBP1_uc010xvn.2_5'Flank	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	72	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTACAGTCTTCGCCCCCATCC	0.577000														195			92		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29420417	29420417	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29420417G>A	uc002rmy.3	-	26	5016	c.4064C>T	c.(4063-4065)cCt>cTt	p.P1355L	ALK_uc010ymo.2_Missense_Mutation_p.P287L	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1355	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CACAGGCCCAGGGCAGTTCTT	0.438000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome		OREG0014526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		82			34		0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124172600	124172600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124172600C>T	uc001ufp.3	+	6	895	c.767C>T	c.(766-768)tCc>tTc	p.S256F	TCTN2_uc009zya.3_Missense_Mutation_p.S255F	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	256					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ATTTTCAGTTCCCCCAAACAG	0.368000														164			48		0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205272864	205272864	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205272864G>A	uc001hce.3	-	6	1728	c.1601C>T	c.(1600-1602)gCc>gTc	p.A534V		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	534					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCTGGCCCGGGCCAGGGGGCG	0.652000														55			31		0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29226487	29226487	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29226487C>T	uc010ezl.3	+	5	1120	c.769C>T	c.(769-771)Ctt>Ttt	p.L257F	FAM179A_uc010ymm.2_Missense_Mutation_p.L257F	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	257							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCCTGGCTCCCTTCCCAGCCC	0.622000														13			5		0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52472087	52472087	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52472087G>A	uc003dea.1	-	13	1638	c.1638C>T	c.(1636-1638)tcC>tcT	p.S546S		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	546					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AGTGGGTACAGGAGGCACCAT	0.677000														29			10		0	0	1	0	0
BTNL2	56244	broad.mit.edu	37	6	32362678	32362678	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32362678C>T	uc003obg.1	-	5	1203	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	BTNL2_uc010jty.1_Silent_p.T124T|BTNL2_uc010jtz.1_Non-coding_Transcript|BTNL2_uc010jua.1_Silent_p.T191T	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	401						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						ATGATGGTATCGTCTTTCCTT	0.562000														191			25		0	0	1	0	0
AK125237	0	broad.mit.edu	37	10	27552006	27552006	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:27552006G>A	uc001itt.1	+	1		c.262G>A								Homo sapiens cDNA FLJ43247 fis, clone HEART2000611.																		CCCTCTAAATGAAGTGATATT	0.438000														39			20		0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40430940	40430940	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:40430940C>T	uc001cev.3	+	3	631	c.450C>T	c.(448-450)ccC>ccT	p.P150P	MFSD2A_uc010ojb.1_Silent_p.P100P|MFSD2A_uc001ceu.3_Silent_p.P137P|MFSD2A_uc010ojc.2_5'UTR|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	150					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGTTCGTGCCCGACTTCCCAC	0.567000														100			6		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44560656	44560656	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44560656C>T	uc003tlb.3	-	12	3071	c.3015G>A	c.(3013-3015)gtG>gtA	p.V1005V	NPC1L1_uc011kbw.2_Silent_p.V959V|NPC1L1_uc003tlc.3_Silent_p.V1005V|NPC1L1_uc003tla.3_Silent_p.V8V	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1005					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)	GGAACTGCTCCACCGAGGGCC	0.567000														163			45		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915400	119915400	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:119915400G>A	uc003vjj.1	+	0	1679	c.714G>A	c.(712-714)atG>atA	p.M238I		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	238					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)					CCTGCGTCATGATCTTCACAG	0.542000														44			11		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855782	12855782	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12855782C>T	uc001auj.2	+	3	1165	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	354										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAAAACCCTCATCTTGGAGG	0.537000														357			63		0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15753742	15753742	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:15753742G>A	uc002yjt.3	-	1	217	c.148C>T	c.(148-150)Cct>Tct	p.P50S	HSPA13_uc011abx.2_5'UTR	NM_006948	NP_008879	P48723	HSP13_HUMAN	Homo sapiens heat shock protein 70kDa family, member 13 (HSPA13), mRNA.	50						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CCTGTGCCAGGAAAAAACACC	0.423000														58			25		0	0	1	0	0
NCS1	23413	broad.mit.edu	37	9	132985378	132985378	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:132985378C>T	uc004bzi.2	+	5	500	c.414C>T	c.(412-414)ctC>ctT	p.L138L	NCS1_uc010myz.1_Silent_p.L120L	NM_014286	NP_055101	P62166	NCS1_HUMAN	Homo sapiens neuronal calcium sensor 1 (NCS1), transcript variant 1, mRNA.	138					negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	Golgi cisterna membrane|cell junction|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						CCGTGGAGCTCCCAGAGGAGG	0.657000														41			11		0	0	1	0	0
KLRD1	3824	broad.mit.edu	37	12	10462072	10462072	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10462072G>A	uc009zhi.3	+	1	353	c.93G>A	c.(91-93)ttG>ttA	p.L31L	KLRD1_uc001qxw.4_Silent_p.L31L|KLRD1_uc001qxx.4_Silent_p.L31L|KLRD1_uc001qxy.4_Intron|KLRD1_uc009zhh.3_Silent_p.L31L|KLRD1_uc001qxz.4_Silent_p.L31L			Q13241	KLRD1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily D, member 1 (KLRD1), transcript variant 1, mRNA.	31					cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						GAATTTTGTTGAAAAATTGTA	0.328000														39			21		0	0	1	0	0
KIAA0240	23506	broad.mit.edu	37	6	42828080	42828080	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:42828080C>T	uc003osn.1	+	10	2486	c.2335C>T	c.(2335-2337)Cta>Tta	p.L779L	KIAA0240_uc011duw.1_Silent_p.L779L|KIAA0240_uc003osp.1_Silent_p.L779L	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	779										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			ATGCCTGCTCCTAGAAGATGC	0.383000														110			52		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47681866	47681866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:47681866C>T	uc003oyz.1	+	6	1056	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	GPR115_uc003oza.1_Silent_p.F295F|GPR115_uc003ozb.1_Silent_p.F295F|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	295	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GCATAGCTTTCCCAACCTTGG	0.468000														43			22		0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013479	73013479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:73013479G>A	uc003hgg.2	+	3	1617	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	NPFFR2_uc010iig.2_Missense_Mutation_p.E289K|NPFFR2_uc003hgi.2_Missense_Mutation_p.E408K|NPFFR2_uc003hgh.2_Missense_Mutation_p.E405K	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	507					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ACCCCAACAGGAATTAGTGAT	0.348000														61			22		0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176951947	176951947	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176951947G>A	uc003mhu.3	-	5	1624	c.1535C>T	c.(1534-1536)cCt>cTt	p.P512L	FAM193B_uc003mhr.3_Missense_Mutation_p.P16L|FAM193B_uc021yiw.1_Missense_Mutation_p.P138L|FAM193B_uc003mht.3_Missense_Mutation_p.P138L|FAM193B_uc003mhv.3_Missense_Mutation_p.P138L|FAM193B_uc003mhw.3_Non-coding_Transcript	NM_001190946	NP_001177875	Q6IPW0	Q6IPW0_HUMAN	Homo sapiens family with sequence similarity 193, member B (FAM193B), transcript variant 3, mRNA.	188										kidney(1)|large_intestine(3)	4						TAGACTCTGAGGCTCAGGCTC	0.557000														18			20		0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39785360	39785360	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39785360C>T	uc003xnm.3	+	9	982	c.868C>T	c.(868-870)Cag>Tag	p.Q290*		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	290					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	ACATGCTGCTCAGTTCCTCCA	0.483000														9			3		0	0	1	0	0
ADAT3	113179	broad.mit.edu	37	19	1912832	1912832	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:1912832C>T	uc002luh.3	+	1	1010	c.738C>T	c.(736-738)ttC>ttT	p.F246F	SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.3_Intron|SCAMP4_uc002luk.3_Intron|SCAMP4_uc010dss.3_Intron|ADAT3_uc021umn.1_Silent_p.F246F	NM_138422	NP_612431	Q96EY9	ADAT3_HUMAN	Homo sapiens adenosine deaminase, tRNA-specific 3 (ADAT3), mRNA.	246					tRNA processing		hydrolase activity|zinc ion binding	p.F246F(2)		breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		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)		TCAGACCCTTCCCCGCCTGCT	0.726000														15			5		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102089764	102089764	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:102089764C>T	uc001kqx.1	-	0	480	c.97G>A	c.(97-99)Ggg>Agg	p.G33R	PKD2L1_uc009xwm.1_5'UTR	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	33					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTCAGCGTCCCGTGTGGGGAA	0.632000														73			39		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166897921	166897921	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166897921G>A	uc002udo.4	-	14	2462	c.2235C>T	c.(2233-2235)ttC>ttT	p.F745F	SCN1A_uc010fpk.3_Silent_p.F717F|SCN1A_uc021vsb.1_Silent_p.F734F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	745						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCCAGATTAAGAATATGTTGG	0.373000														126			38		0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483179	32483179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:32483179C>T	uc002hhu.3	-	0	647	c.373G>A	c.(373-375)Gac>Aac	p.D125N		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	125					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	AGATGGGGGTCCGGGATCTGC	0.597000														45			28		0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158368677	158368677	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158368677G>A	uc010pih.2	-	0	580	c.580C>T	c.(580-582)Cat>Tat	p.H194Y		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TCTTTCACATGGGTGTCAGTG	0.438000														43			15		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118020103	118020103	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:118020103G>A	uc001two.2	-	5	1201	c.1146C>T	c.(1144-1146)atC>atT	p.I382I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	411					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCTGTGCTTGATGGAGTTGC	0.592000														68			12		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18030129	18030129	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:18030129C>T	uc021trm.1	+	4	4110	c.3891C>T	c.(3889-3891)ctC>ctT	p.L1297L	MYO15A_uc021trl.1_Silent_p.L1297L	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1297	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TTGCAAATCTCGCCTTCGCCA	0.547000														91			79		0	0	1	0	0
TLX1	3195	broad.mit.edu	37	10	102893963	102893963	+	Silent	SNP	G	A	A	rs7090185	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:102893963G>A	uc001ksw.3	+	1	838	c.600G>A	c.(598-600)aaG>aaA	p.K200K	TLX1_uc021pxd.1_Silent_p.K200K	NM_005521	NP_005512	P31314	TLX1_HUMAN	Homo sapiens T-cell leukemia homeobox 1 (TLX1), transcript variant 1, mRNA.	200						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CGCCCCCCAAGAAGAAGAAGC	0.642000			T	"""TRB@, TRD@"""	T-ALL									10			3		0	0	1	0	0
IFNW1	3467	broad.mit.edu	37	9	21141378	21141378	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21141378C>T	uc003zol.1	-	0	767	c.192G>A	c.(190-192)gaG>gaA	p.E64E		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	64					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTTTTACCATCTCCTGGGGGA	0.527000														77			48		0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761857	96761857	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:96761857G>A	uc003htr.4	+	0	619	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	186					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AGGAAACGATGAGATCTGTTT	0.478000														82			33		0	0	1	0	0
FAXC	84553	broad.mit.edu	37	6	99797051	99797051	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:99797051G>A	uc003ppj.4	-	0	481	c.198C>T	c.(196-198)acC>acT	p.T66T		NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	Homo sapiens chromosome 6 open reading frame 168 (C6orf168), mRNA.	66																	TCAAGTAAAGGGTTTTCTTCC	0.597000														46			26		0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67681486	67681486	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67681486G>A	uc002etn.3	+	10	972	c.852G>A	c.(850-852)ggG>ggA	p.G284G	RLTPR_uc010cel.1_Silent_p.G284G|RLTPR_uc010vjr.2_Silent_p.G284G	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	284										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCCTCGCGGGGAACCTGCTGG	0.672000														5			8		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942180	12942180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12942180G>A	uc001aun.2	-	2	441	c.370C>T	c.(370-372)Cat>Tat	p.H124Y		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	124										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCACCCATGGGCCATAGCT	0.493000														206			86		0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233394685	233394686	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233394685_233394686GG>AA	uc002vsw.3	+	6	660_661	c.656_657GG>AA	c.(655-657)agg>aAA	p.R219K	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.R204K|CHRND_uc010zmh.2_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	219					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CGGCCGGCCAGGGTCAACGTGG	0.644000														99			18		0	0	1	0	0
C18orf25	147339	broad.mit.edu	37	18	43796350	43796350	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:43796350C>T	uc002lbw.3	+	1	883	c.504C>T	c.(502-504)gtC>gtT	p.V168V	C18orf25_uc002lbx.3_Silent_p.V168V	NM_145055	NP_659492	Q96B23	CR025_HUMAN	Homo sapiens chromosome 18 open reading frame 25 (C18orf25), transcript variant 1, mRNA.	168										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						ATGGCCGAGTCGCCAAGGTTA	0.517000														74			20		0	0	1	0	0
GK5	256356	broad.mit.edu	37	3	141944198	141944199	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:141944198_141944199GG>AA	uc003euq.2	-	0	251_252	c.99_100CC>TT	c.(97-102)tgccac>tgTTac	p.H34Y	GK5_uc010hus.2_Non-coding_Transcript|GK5_uc010hut.2_Non-coding_Transcript	NM_001039547	NP_001034636	Q6ZS86	GLPK5_HUMAN	Homo sapiens glycerol kinase 5 (putative) (GK5), transcript variant 1, mRNA.	34					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TCATAGACGTGGCAGCGGATCA	0.703000														6			5		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052332	44052332	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:44052332C>T	uc001jaw.4	-	1	1849	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	ZNF239_uc001jax.4_Missense_Mutation_p.G399E|ZNF239_uc009xmj.3_Missense_Mutation_p.G399E|ZNF239_uc009xmk.3_Missense_Mutation_p.G399E|ZNF239_uc021pph.1_Missense_Mutation_p.G399E	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGGCTTCTCTCCAGTGTGGAC	0.522000														51			25		0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	39910311	39910311	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:39910311G>A	uc001zki.3	-	10	1542	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	442										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GAAAGCTGGGGGAACACAGGT	0.378000														95			45		0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15549483	15549483	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:15549483G>A	uc004cww.3	+	10	1160	c.972G>A	c.(970-972)tcG>tcA	p.S324S	BMX_uc004cwx.4_Silent_p.S324S|BMX_uc004cwy.4_Silent_p.S324S	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	324	SH2.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TTAGAAATTCGAGCCAAGTGG	0.323000														57			33		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810601	123810601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123810601C>T	uc001pzk.1	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I92I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCTACCATTTCCTTTGGTGGA	0.468000														93			29		0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671761	45671761	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:45671761C>T	uc021qgn.1	-	0	713	c.713G>A	c.(712-714)gGc>gAc	p.G238D	CHST1_uc001mys.2_Missense_Mutation_p.G238D	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	238					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AGCCAGAATGCCGCGGGGGTC	0.652000														60			16		0	0	1	0	0
NRN1	51299	broad.mit.edu	37	6	6006945	6006945	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:6006945A>C	uc003mwu.3	-	0	689	c.38T>G	c.(37-39)aTc>aGc	p.I13S	NRN1_uc021ykx.1_5'Flank	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	Homo sapiens neuritin 1 (NRN1), mRNA.	13						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CACCGCGAGGATCAGTGAAAT	0.577000														97			42		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26343785	26343785	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26343785C>T	uc003abz.1	+	35	5989	c.5739C>T	c.(5737-5739)ctC>ctT	p.L1913L	MYO18B_uc003aca.1_Silent_p.L1794L|MYO18B_uc010guy.1_Silent_p.L1795L|MYO18B_uc010guz.1_Silent_p.L1793L|MYO18B_uc011aka.1_Silent_p.L1067L|MYO18B_uc011akb.1_Silent_p.L1426L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1913	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						ACAAGGACCTCATTGCTCAGG	0.537000														30			10		0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124219654	124219654	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:124219654C>T	uc003ypv.3	+	4	3045	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	FAM83A_uc003ypw.3_Missense_Mutation_p.P344L|FAM83A_uc003ypx.3_Missense_Mutation_p.P344L|FAM83A_uc003ypy.3_Missense_Mutation_p.P288L|FAM83A_uc003ypz.3_Missense_Mutation_p.P344L	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	344	Ser-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GGCAGCCACCCCGGTACCCGA	0.726000														22			9		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675662	62675662	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62675662G>A	uc021ooc.1	+	4	1651	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	L1TD1_uc001dae.4_Missense_Mutation_p.E406K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	406	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						GCTggaggaggaggaggaaga	0.547000														47			19		0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7909971	7909971	+	Silent	SNP	G	A	A	rs56056557		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7909971G>A	uc002gjt.2	+	3	1391	c.1317G>A	c.(1315-1317)ggG>ggA	p.G439G		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	439					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				TCCCGCGTGGGGGATCAGCAC	0.652000														12			3		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110804801	110804801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:110804801G>A	uc001vqw.4	-	50	4930	c.4808C>T	c.(4807-4809)tCc>tTc	p.S1603F		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1603	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTCCAGGCAGGAGCCGGGGGA	0.597000														37			15		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49001503	49001503	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49001503C>T	uc002pjk.3	-	11	2910	c.2910G>A	c.(2908-2910)gaG>gaA	p.E970E		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCGCCGCCTTCTCCTCGATGC	0.642000														94			8		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72286851	72286851	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72286851G>A	uc002atl.4	-	9	2019	c.1546C>T	c.(1546-1548)Cat>Tat	p.H516Y	MYO9A_uc010biq.3_Missense_Mutation_p.H111Y|MYO9A_uc002ato.3_Missense_Mutation_p.H516Y|MYO9A_uc002atn.1_Missense_Mutation_p.H497Y	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	516	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAAGTGCATGATTAATTCGA	0.338000														123			52		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176445	57176445	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57176445G>A	uc010ygn.2	-	1	349	c.122C>T	c.(121-123)gCc>gTc	p.A41V		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TCCCTTGCAGGCCACGGCCTC	0.597000														69			16		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36091374	36091374	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:36091374G>A	uc004ddk.1	+	3	495	c.309G>A	c.(307-309)aaG>aaA	p.K103K		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	103						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						AAGGAACAAAGGCACACTACT	0.408000														50			51		0	0	1	0	0
CIR1	9541	broad.mit.edu	37	2	175213483	175213483	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:175213483G>A	uc002uim.3	-	9	1188	c.1095C>T	c.(1093-1095)agC>agT	p.S365S	CIR1_uc002uin.3_Silent_p.S239S	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	Homo sapiens corepressor interacting with RBPJ, 1 (CIR1), mRNA.	365	Lys/Ser-rich.				RNA splicing|mRNA processing|negative regulation of transcription, DNA-dependent	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						TCTTCTCTGGGCTATGTTTAT	0.512000														127			46		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36149243	36149243	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:36149243G>A	uc003gsq.2	-	17	3464	c.3126C>T	c.(3124-3126)tcC>tcT	p.S1042S		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1042	PH 4.				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						AATGCAAGCTGGATTTGTCCA	0.408000														64			19		0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107848059	107848059	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107848059G>A	uc022aka.1	-	9	1226	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S	NRCAM_uc011kmk.2_Missense_Mutation_p.P374S|NRCAM_uc003vfd.3_Missense_Mutation_p.P355S|NRCAM_uc003vfe.3_Missense_Mutation_p.P355S|NRCAM_uc003vfc.3_Missense_Mutation_p.P368S	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	374	Ig-like 4.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCCTCTCCTGGGGACAGCACA	0.438000														53			4		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180579	124180579	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124180579G>A	uc010sag.2	-	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	28					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)		GGAACAGGAGGAAGAGGGGCA	0.473000														125			30		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110452971	110452971	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110452971T>C	uc003yne.3	+	32	4093	c.3989T>C	c.(3988-3990)tTa>tCa	p.L1330S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1330	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			CAGTATGTTTTAGAAGTGACC	0.363000										HNSCC(38;0.096)				103			28		0	0	1	0	0
SLC35C2	51006	broad.mit.edu	37	20	44983754	44983754	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44983754G>A	uc010zxp.2	-	6	715	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	SLC35C2_uc002xro.3_Missense_Mutation_p.R179C|SLC35C2_uc002xrp.3_Missense_Mutation_p.R158C|SLC35C2_uc002xrq.3_Missense_Mutation_p.R179C|SLC35C2_uc002xrr.3_Missense_Mutation_p.R179C|SLC35C2_uc010zxn.2_Missense_Mutation_p.R44C|SLC35C2_uc010zxo.2_Missense_Mutation_p.R65C	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	179					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				AGGGTCCAGCGAATGCCACCG	0.622000														94			33		0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420578	11420578	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:11420578C>T	uc001qzs.3	-	2	643	c.605G>A	c.(604-606)gGa>gAa	p.G202E	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	202	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCTGGCTTTCCCGGACGAGG	0.627000														363			58		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590485	156590485	+	Missense_Mutation	SNP	C	T	T	rs148999608		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156590485C>T	uc003lwn.3	-	1	891	c.791G>A	c.(790-792)aGg>aAg	p.R264K		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	264	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCTGCTGTCCTTGCTGCTCC	0.587000														89			42		0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64117071	64117071	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64117071G>A	uc001nzy.3	+	15	2842	c.2793G>A	c.(2791-2793)gcG>gcA	p.A931A	CCDC88B_uc009ypo.2_Silent_p.A928A|CCDC88B_uc001nzz.1_Silent_p.A580A|CCDC88B_uc001oaa.3_Silent_p.A83A	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	931					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGGCGGCGGCGACCAGCAAGG	0.682000														13			4		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563857	176563857	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176563857G>A	uc001gkz.3	+	2	2281	c.1117G>A	c.(1117-1119)Gga>Aga	p.G373R	PAPPA2_uc001gky.1_Missense_Mutation_p.G373R|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	373					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACTTACGATGGACGGCACAT	0.572000														57			15		0	0	1	0	0
WFDC3	140686	broad.mit.edu	37	20	44405749	44405749	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44405749C>T	uc002xpf.1	-	4	542	c.458G>A	c.(457-459)gGc>gAc	p.G153D	WFDC3_uc002xpj.1_Non-coding_Transcript|WFDC3_uc002xph.1_Intron|WFDC3_uc010ghh.1_Intron|RNU6ATAC_uc021wel.1_5'Flank	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN	Homo sapiens WAP four-disulfide core domain 3 (WFDC3), mRNA.	153	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GCGGCCACAGCCGGTGCTGCA	0.557000														33			19		0	0	1	0	0
TGFB2	7042	broad.mit.edu	37	1	218609363	218609363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:218609363C>T	uc001hlm.3	+	4	2174	c.806C>T	c.(805-807)tCc>tTc	p.S269F	TGFB2_uc001hln.3_Missense_Mutation_p.S297F|TGFB2_uc010pue.2_Intron|TGFB2_uc001hlo.3_Intron	NM_003238	NP_003229	P61812	TGFB2_HUMAN	Homo sapiens transforming growth factor, beta 2 (TGFB2), transcript variant 2, mRNA.	269					SMAD protein import into nucleus|activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		ACTATAAAGTCCACTAGGAAA	0.423000														77			39		0	0	1	0	0
GPR25	2848	broad.mit.edu	37	1	200842325	200842325	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:200842325C>T	uc001gvn.1	+	0	160	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L		NM_005298	NP_005289	O00155	GPR25_HUMAN	Homo sapiens G protein-coupled receptor 25 (GPR25), mRNA.	54						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CGCCGTGGGCCTGCTGGGCAA	0.721000														19			4		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96030073	96030073	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:96030073G>A	uc004ati.1	+	15	3742	c.3742G>A	c.(3742-3744)Gag>Aag	p.E1248K	WNK2_uc011lud.1_Missense_Mutation_p.E1248K|WNK2_uc004atj.3_Missense_Mutation_p.E1248K|WNK2_uc004atk.3_Missense_Mutation_p.E885K	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1248					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						AACGTTCATCGAGCAGATGAA	0.602000														18			4		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115161063	115161063	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:115161063C>T	uc001efd.1	-	7	1970	c.1268G>A	c.(1267-1269)gGg>gAg	p.G423E	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.G366E	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	423										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		CTTCTTCTTCCCTCTTTTAGA	0.343000														72			20		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52498066	52498066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:52498066C>T	uc010bff.3	-	36	4646	c.4484G>A	c.(4483-4485)cGa>cAa	p.R1495Q	MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1495	Dilute.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ATGATATATTCGTATAGCCAC	0.303000														61			17		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71482455	71482455	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:71482455C>T	uc003kbw.4	+	3	625	c.384C>T	c.(382-384)atC>atT	p.I128I	MAP1B_uc010iyw.1_Silent_p.I128I|MAP1B_uc010iyx.1_Silent_p.I2I|MAP1B_uc010iyy.1_Silent_p.I2I	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	128						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCTTAATGATCACTGATGCTG	0.557000														116			37		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197073649	197073649	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197073649G>A	uc001gtu.3	-	17	4989	c.4732C>T	c.(4732-4734)Cga>Tga	p.R1578*	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1578					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTAAAAATCGAACTCTGTCT	0.338000														72			19		0	0	1	0	0
SLC43A1	8501	broad.mit.edu	37	11	57256424	57256424	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57256424G>A	uc001nkk.3	-	12	1492	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	SLC43A1_uc001nkl.3_Silent_p.F458F	NM_001198810	NP_001185739	O75387	LAT3_HUMAN	Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA.	458					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CTGAGTGGAAGAAACCTCGAA	0.512000														65			13		0	0	1	0	0
DPYSL3	1809	broad.mit.edu	37	5	146777300	146777300	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:146777300C>T	uc003loo.3	-	11	1930	c.1732G>A	c.(1732-1734)Ggg>Agg	p.G578R	DPYSL3_uc003lon.1_Missense_Mutation_p.G464R	NM_001197294	NP_001184223	Q14195	DPYL3_HUMAN	Homo sapiens dihydropyrimidinase-like 3 (DPYSL3), transcript variant 1, mRNA.	464					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCAGCCCCCTGGGTCACG	0.562000														94			31		0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47091816	47091816	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:47091816A>T	uc002ldv.3	+	1	479	c.227A>T	c.(226-228)gAc>gTc	p.D76V	LIPG_uc002ldu.1_Missense_Mutation_p.D76V|LIPG_uc010xdh.2_Missense_Mutation_p.D76V	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	76					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CCCTTAGAAGACTGCAGTTTC	0.517000														60			18		0	0	1	0	0
RILP	83547	broad.mit.edu	37	17	1549859	1549859	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:1549859G>A	uc002ftd.3	-	7	1377	c.1083C>T	c.(1081-1083)agC>agT	p.S361S	SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	NM_031430	NP_113618	Q96NA2	RILP_HUMAN	Homo sapiens Rab interacting lysosomal protein (RILP), mRNA.	361					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGGGTGCAGGGCTGCTGGTCT	0.592000														61			58		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57569316	57569316	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57569316C>T	uc001snd.3	+	22	4087	c.3621C>T	c.(3619-3621)tcC>tcT	p.S1207S		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1207	EGF-like 5.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTGTGTGTTCCTGCCCTCTGG	0.582000											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			23		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22157590	22157590	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:22157590G>A	uc010vbq.2	+	26	2860	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc002dkg.4_5'UTR|VWA3A_uc010bxe.1_5'UTR	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	922						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GACGCCCAGGGAGATGGAGGT	0.587000														24			3		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647772	51647772	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51647772G>A	uc002pvv.1	+	1	612	c.543G>A	c.(541-543)atG>atA	p.M181I	SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	181	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CGCCCCCTATGATCTCCTGGA	0.652000														165			45		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981797	61981797	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61981797G>A	uc002yes.2	-	4	1144	c.966C>T	c.(964-966)gtC>gtT	p.V322V	CHRNA4_uc002yet.1_Silent_p.V146V|CHRNA4_uc010gke.1_Silent_p.V251V|CHRNA4_uc002yev.1_Silent_p.V146V|CHRNA4_uc010gkf.1_Silent_p.V146V	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	322					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.I321I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	AGACCGTGATGACGATGGACA	0.607000														82			35		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008206	41008206	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41008206C>T	uc002ony.3	+	8	1155	c.1069C>T	c.(1069-1071)Ctg>Ttg	p.L357L	SPTBN4_uc002onx.3_Silent_p.L357L|SPTBN4_uc002onz.3_Silent_p.L357L	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	357					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTATTGCACGCTGGAGAAGCC	0.607000														49			24		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602760	96602760	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96602760C>T	uc010qnz.2	+	6	1128	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	CYP2C19_uc010qny.2_Silent_p.F354F	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	376					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ACGTTAAATTCAGAAACTACC	0.473000														138			37		0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707846	50707846	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:50707846G>A	uc002egk.2	-	3	595	c.422C>T	c.(421-423)cCc>cTc	p.P141L	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	141	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GTGCTTCCTGGGAAACTCCAC	0.602000														58			7		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108869898	108869898	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:108869898G>A	uc010ywo.2	+	3	399	c.399_splice	c.e3+1	p.K133_splice		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	133						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAAACTGCAAGGTATAAAGAG	0.338000														54			24		0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418468	55418468	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55418468C>T	uc001nhs.1	+	0	89	c.89C>T	c.(88-90)tCt>tTt	p.S30F		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	30					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)				GTGGTGTTTTCTTTCTTCTAC	0.388000														117			28		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211624	38211624	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:38211624C>T	uc010abx.3	-	10	2600	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K	TRPC4_uc010abv.3_Missense_Mutation_p.E364K|TRPC4_uc001uwt.3_Missense_Mutation_p.E784K|TRPC4_uc001uws.3_Missense_Mutation_p.E784K|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Missense_Mutation_p.E611K|TRPC4_uc010aby.3_Missense_Mutation_p.E719K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	784	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTATTACCTTCGCTATCACTC	0.413000														92			39		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23816229	23816229	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:23816229C>T	uc003gqs.3	-	8	998	c.878_splice	c.e8-1	p.G293_splice	PPARGC1A_uc003gqt.3_Splice_Site|PPARGC1A_uc011bxp.1_Intron|PPARGC1A_uc010ier.1_Intron	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	293	Interaction with PPARG.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGAGTTAGGCCTAAGGCAAAA	0.393000														39			17		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25834646	25834646	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:25834646G>A	uc003gru.4	-	4	1221	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	357						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATATCCAGTCGAAACCACTCC	0.393000														71			29		0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5626743	5626743	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5626743G>A	uc001mbf.3	+	3	1043	c.780G>A	c.(778-780)gaG>gaA	p.E260E	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Silent_p.E206E|TRIM6-TRIM34_uc010qzj.2_Silent_p.E57E|TRIM6-TRIM34_uc001mbc.2_Silent_p.E232E|TRIM6-TRIM34_uc001mbe.3_Silent_p.E57E|TRIM6-TRIM34_uc001mbd.3_Silent_p.E260E|TRIM6-TRIM34_uc010qzk.2_Silent_p.E57E|TRIM6-TRIM34_uc010qzl.2_Silent_p.E57E|TRIM6-TRIM34_uc009yep.1_Silent_p.E57E	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	260						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CGCTGCGAGAGCTCATCTCGG	0.522000											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		48			13		0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756558	248756558	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248756558G>A	uc010pzn.2	-	0	512	c.512C>T	c.(511-513)tCc>tTc	p.S171F		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			AATCTCATGGGATCTGCAGAA	0.507000														117			28		0	0	1	0	0
TMEM207	131920	broad.mit.edu	37	3	190158179	190158179	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:190158179C>T	uc003fsj.2	-	4	226	c.159_splice	c.e4-1	p.W53_splice		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	Homo sapiens transmembrane protein 207 (TMEM207), mRNA.	53						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		CAGGAGGATCCTGACTCCAAA	0.517000														25			7		0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38281580	38281580	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:38281580C>T	uc001wuj.3	+	7	923	c.821C>T	c.(820-822)aCc>aTc	p.T274I	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.T177I|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		AAACTAAATACCTTCCTTAAT	0.368000														82			31		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102477362	102477362	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102477362G>A	uc001phc.3	-	5	870	c.857C>T	c.(856-858)cCc>cTc	p.P286L		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	286					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CTTGTGATGGGGGGCATGGGG	0.527000														61			22		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35949969	35949969	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:35949969G>A	uc003olm.3	-	7	1065	c.954C>T	c.(952-954)ttC>ttT	p.F318F	SLC26A8_uc003oll.3_Silent_p.F213F|SLC26A8_uc003oln.3_Silent_p.F318F	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	318					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						CAATCACAGTGAAGCCAATAA	0.418000														86			37		0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6022607	6022607	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:6022607C>T	uc002wmo.2	-	4	1508	c.1284G>A	c.(1282-1284)ggG>ggA	p.G428G		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	428						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AGGGGGCAGTCCCCTCCCGTG	0.657000														41			20		0	0	1	0	0
TNIP1	10318	broad.mit.edu	37	5	150436378	150436378	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:150436378G>A	uc003lti.3	-	5	817	c.576C>T	c.(574-576)aaC>aaT	p.N192N	TNIP1_uc010jhq.2_Silent_p.N139N|TNIP1_uc010jho.2_Non-coding_Transcript|TNIP1_uc010jhp.2_Silent_p.N139N|TNIP1_uc010jhl.3_Non-coding_Transcript|TNIP1_uc010jhn.3_Silent_p.N192N|TNIP1_uc010jhm.3_Silent_p.N192N|TNIP1_uc010jhr.2_Silent_p.N192N|TNIP1_uc011dco.2_Silent_p.N192N|TNIP1_uc003ltg.3_Silent_p.N139N|TNIP1_uc003ltk.3_Silent_p.N192N|TNIP1_uc003ltj.3_Silent_p.N192N|TNIP1_uc021ygb.1_Silent_p.N192N	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.	192	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGCCAGTCGGTTGAACTCCA	0.667000														48			6		0	0	1	0	0
DYX1C1	161582	broad.mit.edu	37	15	55727241	55727241	+	Silent	SNP	C	T	T	rs138026922		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:55727241C>T	uc002adc.3	-	7	1277	c.909G>A	c.(907-909)acG>acA	p.T303T	CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Intron|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Silent_p.T303T|DYX1C1_uc002add.3_Silent_p.T303T	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.	303					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		AATAGTTTTCCGTTGCAAACA	0.318000														62			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048826	9048826	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9048826G>A	uc002mkp.3	-	4	33009	c.32805C>T	c.(32803-32805)acC>acT	p.T10935T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10937	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						TGACCAGAGAGGTCACCACTC	0.498000														89			45		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7769021	7769021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:7769021G>A	uc001ijs.3	+	9	1255	c.1093G>A	c.(1093-1095)Gct>Act	p.A365T		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	365	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTAATTTCAGCTACAAAAAC	0.423000														65			21		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33152024	33152024	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33152024G>A	uc003ocx.1	-	7	1245	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	339	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCCCTTCAGGGGGGTCTGTGC	0.612000														92			37		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175087870	175087870	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175087870G>A	uc001gkl.1	+	10	2673	c.2560G>A	c.(2560-2562)Ggc>Agc	p.G854S		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	854	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.T853M(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGTCCTGACGGGCCTGAGGCC	0.607000														91			28		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34182085	34182085	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34182085G>A	uc001bxm.1	-	19	3195	c.3018C>T	c.(3016-3018)ttC>ttT	p.F1006F	CSMD2_uc001bxn.1_Silent_p.F966F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	966	CUB 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAAGGTGTGGAAAGTGAAGA	0.542000														17			8		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38927686	38927686	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38927686C>T	uc021wvy.1	-	15	3078	c.2879G>A	c.(2878-2880)aGa>aAa	p.R960K	SCN11A_uc010hhn.1_Intron	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	960					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACTTTGAACTCTCTGGCTCGT	0.448000														61			21		0	0	1	0	0
KBTBD13	390594	broad.mit.edu	37	15	65370117	65370117	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65370117G>A	uc010uis.2	+	0	964	c.964G>A	c.(964-966)Gag>Aag	p.E322K	RASL12_uc010uir.1_5'Flank	NM_001101362	NP_001094832	C9JR72	KBTBD_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 13 (KBTBD13), mRNA.	322						cytoplasm				lung(1)|prostate(1)|skin(1)	3						CGCCGTGGTGGAGTACGCAGT	0.731000														10			8		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436215	248436215	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248436215C>T	uc010pzi.2	-	0	902	c.902G>A	c.(901-903)cGg>cAg	p.R301Q		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			CCCCAGCCACCGTTTCAGGGC	0.438000														207			100		0	0	1	0	0
CHKB	1120	broad.mit.edu	37	22	51018247	51018247	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:51018247G>A	uc003bmv.3	-	8	1158	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	CPT1B_uc003bmk.4_5'Flank|CPT1B_uc003bmm.3_5'Flank|CPT1B_uc003bml.3_5'Flank|CPT1B_uc003bmo.3_5'Flank|CPT1B_uc011asa.2_5'Flank|CPT1B_uc003bmn.3_5'Flank|CPT1B_uc011asb.2_5'Flank|CPT1B_uc003bmp.3_5'Flank|CPT1B_uc021wsc.1_Non-coding_Transcript|CHKB_uc003bmt.2_Missense_Mutation_p.R105C|CHKB_uc003bmu.3_Missense_Mutation_p.R193C	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	Homo sapiens choline kinase beta (CHKB), mRNA.	314					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	AGGTAATGACGAATAAAATGC	0.488000														119			58		0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71483463	71483463	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71483463G>A	uc002faf.3	-	5	1279	c.465C>T	c.(463-465)ctC>ctT	p.L155L	ZNF23_uc002fah.3_Silent_p.L155L|ZNF23_uc002fad.3_Silent_p.L97L|ZNF23_uc010vmf.2_Silent_p.L97L|ZNF23_uc002fag.3_Silent_p.L97L|ZNF23_uc002fai.3_Silent_p.L194L	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		CATGCTTCACGAGTTTTGTAT	0.393000														91			27		0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168278043	168278043	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:168278043C>T	uc001gfl.3	+	6	1031	c.980C>T	c.(979-981)tCc>tTc	p.S327F	TBX19_uc001gfj.4_Missense_Mutation_p.S195F|TBX19_uc001gfm.3_Missense_Mutation_p.S30F	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	327					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					AGCTGGACTTCCTTATCCTCC	0.473000														115			35		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73072163	73072164	+	RNA	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73072163_73072164GG>AA	uc004ebm.1	-	0		c.425_426CC>TT								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AGGTATCCACGGCCCCGTTGGG	0.436000														4			8		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51752037	51752037	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51752037G>A	uc001ryk.2	-	7	1602	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Silent_p.F459F|GALNT6_uc001ryj.1_Silent_p.F24F	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	459					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AAATGTCACCGAAGGATTTCT	0.473000														117			44		0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	354414	354414	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:354414G>A	uc002cgp.2	-	4	1533	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.R382C	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	382	Interaction with GSK3B (By similarity).				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.?(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGCTCCACGCGGACCTCCTTC	0.632000														36			7		0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17138385	17138385	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:17138385G>A	uc011aby.1	+	2	410	c.193G>A	c.(193-195)Gag>Aag	p.E65K	USP25_uc002yjz.1_Missense_Mutation_p.E65K|USP25_uc010gla.1_Missense_Mutation_p.E65K|USP25_uc002yjy.1_Missense_Mutation_p.E65K	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	65					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CCCTCAGCAGGAGGAGACAAC	0.398000														92			7		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97081904	97081904	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:97081904G>A	uc004aup.1	-	5	1497	c.1476C>T	c.(1474-1476)acC>acT	p.T492T		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	492										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				CCTGGGCAAGGGTGAGTCCTT	0.612000														111			66		0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80631636	80631636	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:80631636G>A	uc003khl.4	-	11	1268	c.1213C>T	c.(1213-1215)Cgt>Tgt	p.R405C	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	405	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	p.R405H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GACAAGAGACGATAAGCCAAA	0.348000														102			32		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76756929	76756929	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:76756929G>A	uc002lmt.3	+	2	3510	c.3510G>A	c.(3508-3510)gcG>gcA	p.A1170A	SALL3_uc010dra.3_Silent_p.A705A	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACGCCCCCGCGAGACGCGGCC	0.627000														24			10		0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962038	10962038	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10962038G>A	uc001qyx.3	-	0	730	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	213					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCATGCAGTCGAATCTGCTTG	0.488000														51			19		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139601552	139601552	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:139601552G>A	uc003yvd.3	-	64	5272	c.4825C>T	c.(4825-4827)Cag>Tag	p.Q1609*	COL22A1_uc011ljo.2_Nonsense_Mutation_p.Q889*	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1609					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TAGGCACACTGGGAAGGGTCA	0.602000										HNSCC(7;0.00092)				38			12		0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133779647	133779647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:133779647G>A	uc004bzz.3	-	6	1435	c.1190C>T	c.(1189-1191)tCa>tTa	p.S397L	FIBCD1_uc011mcc.2_Missense_Mutation_p.S397L	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	397	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GTTGTTCTCTGAATGGTCGCT	0.652000														99			27		0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31457512	31457512	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:31457512G>A	uc002rnu.3	+	0	633	c.25G>A	c.(25-27)Gac>Aac	p.D9N	EHD3_uc010ymt.2_Missense_Mutation_p.D9N	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	9					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GGGTACGGACGACCGCCGGAG	0.642000														61			25		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3670728	3670728	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3670728G>A	uc002wja.3	-	17	4775	c.4775C>T	c.(4774-4776)tCc>tTc	p.S1592F	SIGLEC1_uc002wiz.4_Missense_Mutation_p.S1592F|SIGLEC1_uc002wjb.1_Missense_Mutation_p.S231F	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1592	Ig-like C2-type 16.				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						GGCATTGGGGGAAGCCAGGAC	0.632000														15			5		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769146	57769146	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:57769146G>A	uc002yan.3	+	0	3072	c.3072G>A	c.(3070-3072)ggG>ggA	p.G1024G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1024						intracellular	nucleic acid binding|zinc ion binding	p.G1023G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGTTGGGGGGGGACAAGGGGG	0.682000														17			10		0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4245738	4245738	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:4245738C>T	uc002cvz.4	-	4	439	c.426G>A	c.(424-426)aaG>aaA	p.K142K	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	601	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TGGTTTTCAGCTTAGGCCCAT	0.542000														29			5		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31624191	31624191	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:31624191G>A	uc002rnv.1	-	3	280	c.201C>T	c.(199-201)caC>caT	p.H67H		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	67	2Fe-2S ferredoxin-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGGCAGAAAAGTGGCTAGAAC	0.507000														46			5		0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3827613	3827613	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3827613C>T	uc002lyw.2	-	5	903	c.891G>A	c.(889-891)aaG>aaA	p.K297K	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	297						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CCGCCTCCTTCTTTCTGTGCT	0.692000														5			3		0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479481	156479481	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156479481C>T	uc010jij.1	-	3	749	c.564G>A	c.(562-564)acG>acA	p.T188T	HAVCR1_uc011ddl.1_Silent_p.T19T|HAVCR1_uc003lwi.2_Silent_p.T188T|HAVCR1_uc021ygj.1_Silent_p.T188T|HAVCR1_uc021ygk.1_Silent_p.T19T|HAVCR1_uc011ddm.2_Silent_p.T188T	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	183	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGAACGCTCGTTGTCGTTG	0.473000														448			171		0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	328088	328088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:328088C>T	uc003zgf.2	+	8	1073	c.961C>T	c.(961-963)Cct>Tct	p.P321S	DOCK8_uc011lls.1_Missense_Mutation_p.P321S|DOCK8_uc022bcu.1_Missense_Mutation_p.P253S|DOCK8_uc010mgv.3_Missense_Mutation_p.P253S|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc003zgg.3_Missense_Mutation_p.P253S|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	321					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGCTCACACGCCTTCAGTGGC	0.458000														59			7		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136570068	136570068	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136570068G>A	uc002tuu.1	-	6	2177	c.2166C>T	c.(2164-2166)tcC>tcT	p.S722S		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	722	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.S721*(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAATCCAAGAGGATGAGGTCT	0.522000														70			36		0	0	1	0	0
CDT1	81620	broad.mit.edu	37	16	88873061	88873061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:88873061C>T	uc002flu.3	+	6	1155	c.1101C>T	c.(1099-1101)gcC>gcT	p.A367A		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	Homo sapiens chromatin licensing and DNA replication factor 1 (CDT1), mRNA.	367					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		TGGCCCGGGCCCGCAACCTGA	0.667000														17			5		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71977812	71977812	+	Silent	SNP	G	A	A	rs141274411		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:71977812G>A	uc001swl.3	+	17	2070	c.2022G>A	c.(2020-2022)acG>acA	p.T674T	LGR5_uc001swm.3_Silent_p.T650T|LGR5_uc021rar.1_Silent_p.T602T|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	674						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AATTTGAAACGAAAGCTCCAT	0.478000														168			42		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584281	88584281	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:88584281G>A	uc003hqv.3	+	5	1455	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	DMP1_uc003hqw.3_Missense_Mutation_p.E435K	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	451					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CCATTCTGAGGAAGACGACAG	0.532000														59			7		0	0	1	0	0
BC024008	0	broad.mit.edu	37	12	98126997	98126997	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:98126997C>T	uc001tfc.1	-	4		c.1060G>A			BC024008_uc001tfd.3_Non-coding_Transcript					Homo sapiens cDNA FLJ25775 fis, clone TST06543.																		CCTTGAATATCTTCCACTGCA	0.468000														17			12		0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43318761	43318761	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:43318761G>A	uc002iin.3	+	13	1545	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	FMNL1_uc002iiq.3_Missense_Mutation_p.E27K|FMNL1_uc010dag.3_5'Flank|FMNL1_uc021tyj.1_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	449	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCGCTTCAGCGAATCGACCGC	0.687000														4			3		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51649346	51649346	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51649346C>T	uc002pvv.1	+	3	1064	c.995C>T	c.(994-996)tCc>tTc	p.S332F	SIGLEC7_uc002pvw.1_Missense_Mutation_p.S239F|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	332	Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CAGCACGTTTCCCTGAACCTC	0.607000														61			25		0	0	1	0	0
DGCR6	8214	broad.mit.edu	37	22	18897764	18897764	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:18897764G>A	uc002zoh.4	+	2	503	c.351G>A	c.(349-351)gcG>gcA	p.A117A	DGCR6_uc002zog.3_Non-coding_Transcript|DGCR6_uc002zoi.4_Non-coding_Transcript	NM_005675	NP_005666	Q14129	DGCR6_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 6 (DGCR6), mRNA.	117			A -> V (in dbSNP:rs16983281).		cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						TGCTTCAGGCGGCTCAGCAGC	0.672000														15			4		0	0	1	0	0
FAM105B	90268	broad.mit.edu	37	5	14693021	14693021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:14693021C>T	uc003jfk.3	+	6	1075	c.923C>T	c.(922-924)tCc>tTc	p.S308F		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	Homo sapiens family with sequence similarity 105, member B (FAM105B), mRNA.	308										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					TACCGGCTCTCCAAGTACAAC	0.522000														90			35		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39880361	39880361	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:39880361G>A	uc001zkh.3	+	8	1592	c.1413G>A	c.(1411-1413)ggG>ggA	p.G471G	THBS1_uc010bbi.3_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	471	TSP type-1 2.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	p.N470N(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AGATGAACGGGAAACCCTGTG	0.597000														93			10		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135482015	135482015	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:135482015G>A	uc004ezu.1	+	20	8606	c.8315G>A	c.(8314-8316)cGa>cAa	p.R2772Q	GPR112_uc010nsb.1_Missense_Mutation_p.R2567Q	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2772					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGCAAACTTCGAAAAGATTAT	0.318000														22			26		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94083510	94083510	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94083510T>G	uc001ybv.1	+	25	3702	c.3619T>G	c.(3619-3621)Tta>Gta	p.L1207V	UNC79_uc001ybs.1_Missense_Mutation_p.L1185V	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1362						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						CCTTCTCCCCTTAGTGGTTCA	0.433000														122			26		0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73731423	73731423	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:73731423G>A	uc010ttx.2	+	20	3277	c.3114G>A	c.(3112-3114)caG>caA	p.Q1038Q	PAPLN_uc001xnw.4_Silent_p.Q1011Q|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Silent_p.Q1022Q|PAPLN_uc010arm.3_Silent_p.Q237Q|PAPLN_uc010arn.3_Silent_p.Q238Q	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	1038	Ig-like C2-type 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CACACCCACAGCCTGCAAACA	0.657000														113			49		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540736	94540736	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94540736G>A	uc003unp.3	+	1	1593	c.1311G>A	c.(1309-1311)atG>atA	p.M437I	PPP1R9A_uc010lfj.3_Missense_Mutation_p.M437I|PPP1R9A_uc011kif.2_Missense_Mutation_p.M437I|PPP1R9A_uc003unq.3_Missense_Mutation_p.M437I|PPP1R9A_uc011kig.2_Missense_Mutation_p.M437I	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	437	Interacts with protein phosphatase 1 (By similarity).					cell junction|synapse|synaptosome	actin binding	p.D436D(1)		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)			AGCCTGATATGGAGTACTCGG	0.418000										HNSCC(28;0.073)				39			16		0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48654501	48654502	+	Silent	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:48654501_48654502GG>AA	uc002pia.1	-	6	681_682	c.561_562CC>TT	c.(559-564)ccccta>ccTTta	p.187_188PL>PL	LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Intron|LIG1_uc010xzg.1_Silent_p.156_157PL>PL|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	187					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GAGGTCTTTAGGGGCTTGGGAG	0.554000								Nucleotide excision repair (NER)						158			40		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363912	22363912	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22363912C>T	uc002nqs.1	-	2	925	c.607G>A	c.(607-609)Ggc>Agc	p.G203S		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	203					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)				AAGGCTTTGCCACATTCTTCA	0.358000														84			26		0	0	1	0	0
CLNK	116449	broad.mit.edu	37	4	10515185	10515185	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:10515185C>T	uc003gmo.4	-	15	946	c.809G>A	c.(808-810)aGa>aAa	p.R270K		NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.	270					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AGGCTGGCATCTCTGAGGAGA	0.493000														16			6		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529496	5529496	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5529496C>T	uc021qcw.1	-	0	1293	c.1293G>A	c.(1291-1293)ggG>ggA	p.G431G	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Silent_p.G431G	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	431										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGAGCTTTTCCCTGCACCAT	0.517000														81			41		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059153	152059153	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152059153T>C	uc001ezo.1	-	2	1070	c.1005A>G	c.(1003-1005)gaA>gaG	p.E335E		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	335							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)			CCTTTCCTGGTTCTTGAGTGT	0.448000														310			79		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686794	100686795	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100686794_100686795AC>TT	uc003uxp.1	+	2	12150_12151	c.12097_12098AC>TT	c.(12097-12099)aca>TTa	p.T4033L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4033						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCAACCAGTACACCTCACACC	0.525000														173			62		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81212437	81212437	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:81212437C>T	uc002bfw.1	+	13	2060	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	KIAA1199_uc010unn.1_Silent_p.I600I	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	600										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCCTGCAGATCAAGGACGTTG	0.488000														64			63		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36332717	36332717	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36332717G>A	uc002oby.3	-	19	2871	c.2715C>T	c.(2713-2715)acC>acT	p.T905T	NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	905	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGTTGGCAATGGTCAGGAGGC	0.557000														21			9		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767539	57767539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:57767539C>T	uc002yan.3	+	0	1465	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	489						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCACTCCGTCCCCACTCAGCT	0.701000														58			19		0	0	1	0	0
LOC341056	341056	broad.mit.edu	37	11	122888917	122888917	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:122888917G>A	uc010rzt.2	+	0		c.644G>A								Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA.																		AGTAGAAGATGGGCCTGATAC	0.433000														110			36		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234622025	234622025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234622025G>A	uc002vuw.3	+	0	388	c.388G>A	c.(388-390)Gag>Aag	p.E130K	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Missense_Mutation_p.E130K	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	129					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GTCTTGTGTGGAGCTACTGCA	0.438000														221			58		0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96294492	96294492	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:96294492C>T	uc004atw.3	+	9	1815	c.1790C>T	c.(1789-1791)cCg>cTg	p.P597L	FAM120A_uc004atx.3_Missense_Mutation_p.P379L|FAM120A_uc004aty.3_Missense_Mutation_p.P378L|FAM120A_uc004atz.3_Missense_Mutation_p.P246L|FAM120A_uc010mrg.3_5'UTR	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	597						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GACCTGCCTCCGGCCGCTCTG	0.418000														171			47		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21896403	21896403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21896403G>A	uc001war.2	-	2	1291	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	CHD8_uc001was.2_Missense_Mutation_p.S130F	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	409	Gln-rich.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGCCCCTTGGGAAGAGCCAGC	0.473000														95			11		0	0	1	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16734107	16734107	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:16734107C>T	uc011nas.1	+	1	287	c.108C>T	c.(106-108)ttC>ttT	p.F36F	NLGN4Y_uc004fte.2_Intron|NLGN4Y_uc004ftg.2_Silent_p.F36F|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Silent_p.F36F|NLGN4Y_uc004fti.4_Silent_p.F36F	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	36					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CCATCAAGTTCACCCTCATTG	0.468000														31			30		0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95500992	95500992	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:95500992C>T	uc003ygo.2	-	23	5452	c.5381G>A	c.(5380-5382)gGa>gAa	p.G1794E	KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1794					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AACAAACTTTCCTCTTGAGCC	0.498000														174			67		0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149903251	149903251	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:149903251G>A	uc001etl.4	-	12	1442	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	MTMR11_uc001etm.2_Silent_p.A325A|MTMR11_uc010pbm.1_Intron|MTMR11_uc010pbn.1_Missense_Mutation_p.P224S	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	397	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ACAGTGTTCGGGCTTCGGGGG	0.567000														79			12		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21805064	21805064	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:21805064C>T	uc003svc.3	+	55	9011	c.8980C>T	c.(8980-8982)Cca>Tca	p.P2994S		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2994	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGTTTCTCTCCAGTTGGTCG	0.502000									Kartagener syndrome					106			49		0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14284465	14284465	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:14284465G>A	uc001mle.3	+	15	2469	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	735					cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	p.A733D(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGGGAGGCCCGAGAGAGCCGG	0.592000														39			16		0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15780251	15780251	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:15780251G>A	uc003gol.1	+	0	321	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	CD38_uc021xmk.1_Non-coding_Transcript	NM_001775	NP_001766	P28907	CD38_HUMAN	Homo sapiens CD38 molecule (CD38), mRNA.	72					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	NAD+ nucleosidase activity|binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						CAAGTACACTGAAATTCATCC	0.692000														37			22		0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29752501	29752501	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:29752501G>A	uc003afj.3	-	5	817	c.630C>T	c.(628-630)gcC>gcT	p.A210A	AP1B1_uc003afl.3_Silent_p.A210A|AP1B1_uc003afi.3_Silent_p.A210A	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	210					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACTCATTGAGGGCTGTCAGCA	0.602000														35			20		0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131231365	131231365	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:131231365C>T	uc004ewn.3	-	3	391	c.213G>A	c.(211-213)aaG>aaA	p.K71K	FRMD7_uc011muy.2_Intron	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	71	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AAACAATCTCCTTAGGATCTT	0.388000														106			18		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79747293	79747293	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:79747293G>A	uc001sys.3	+	9	1493	c.822G>A	c.(820-822)ttG>ttA	p.L274L	SYT1_uc001syt.3_Silent_p.L274L|SYT1_uc001syu.3_Silent_p.L271L|SYT1_uc001syv.3_Silent_p.L274L	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	274	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AAGAGAAATTGGGTGATATCT	0.373000														120			63		0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651679	1651679	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1651679C>T	uc001lty.3	+	0	647	c.609C>T	c.(607-609)agC>agT	p.S203S	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	203	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCCTGTAGCTGCTTCTCAG	0.592000														178			57		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31241586	31241586	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:31241586C>T	uc010dmg.1	+	4	417	c.362C>T	c.(361-363)tCg>tTg	p.S121L	ASXL3_uc002kxq.2_5'UTR	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTAGTTTGTTCGAAGCAGGTA	0.373000														14			4		0	0	1	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103599731	103599731	+	Silent	SNP	G	A	A	rs147415735	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:103599731G>A	uc001ymm.1	+	8	1709	c.1578G>A	c.(1576-1578)gtG>gtA	p.V526V	TNFAIP2_uc010awo.1_Intron|TNFAIP2_uc010txz.1_Silent_p.V195V|TNFAIP2_uc010tya.1_Silent_p.V9V	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	526					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			TGCACCTGGTGAAGGAGTACA	0.627000														62			18		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100593733	100593733	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:100593733G>A	uc003dun.3	-	8	968	c.883C>T	c.(883-885)Cct>Tct	p.P295S	ABI3BP_uc003duo.2_Missense_Mutation_p.P288S|ABI3BP_uc003dup.4_Missense_Mutation_p.P288S	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	295						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGGGATGCAGGAAGTTTTACA	0.353000														14			7		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50534694	50534694	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:50534694G>A	uc001zxz.3	-	11	2094	c.1752C>T	c.(1750-1752)tcC>tcT	p.S584S	HDC_uc001zxy.3_Silent_p.S327S|HDC_uc010uff.2_Silent_p.S551S	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	584					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.R583L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TGCAACTGAGGGAGCGCACCG	0.542000														228			75		0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41853402	41853402	+	Missense_Mutation	SNP	G	A	A	rs148972694	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:41853402G>A	uc001zof.2	+	1	438	c.202G>A	c.(202-204)Ggg>Agg	p.G68R		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	68	Ig-like C2-type 1.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CAGTGTGGAGGGGATGGAGGA	0.592000														72			8		0	0	1	0	0
ALKBH4	54784	broad.mit.edu	37	7	102097929	102097929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:102097929G>A	uc003uzl.3	-	2	859	c.821C>T	c.(820-822)tCg>tTg	p.S274L	ALKBH4_uc003uzm.3_Missense_Mutation_p.S201L	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN	Homo sapiens alkB, alkylation repair homolog 4 (E. coli) (ALKBH4), mRNA.	274						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						AAACTCAGCCGACAGCTCCCG	0.667000														37			14		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76381981	76381981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:76381981G>A	uc021rkq.1	+	9	1897	c.1562G>A	c.(1561-1563)cGa>cAa	p.R521Q	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Missense_Mutation_p.R288Q|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Missense_Mutation_p.R194Q	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	573						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATTGTTCGCCGAATTCCAGCA	0.453000														125			11		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100126602	100126602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:100126602C>T	uc001pga.3	+	16	2620	c.2116C>T	c.(2116-2118)Ctt>Ttt	p.L706F	CNTN5_uc001pfz.3_Missense_Mutation_p.L706F|CNTN5_uc021qpb.1_Missense_Mutation_p.L706F|CNTN5_uc021qpc.1_Missense_Mutation_p.L632F|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	706	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTCCTACAACCTTCAAGCTCG	0.502000														50			28		0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713209	138713209	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:138713209G>A	uc004cgr.4	-	10	3298	c.3298C>T	c.(3298-3300)Cgt>Tgt	p.R1100C	CAMSAP1_uc004cgq.4_Missense_Mutation_p.R990C|CAMSAP1_uc010nbg.3_Missense_Mutation_p.R822C	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1100						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTTCCGGAACGGGAATTCCGG	0.642000														37			15		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204589039	204589039	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204589039G>A	uc021phy.1	-	0	82	c.82C>T	c.(82-84)Ccc>Tcc	p.P28S	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.P28S|LRRN2_uc001hbf.1_Missense_Mutation_p.P28S|LRRN2_uc009xbf.1_Missense_Mutation_p.P28S|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	28	LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGGGGGCAGGGAACATGCCAG	0.647000														26			6		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081516	152081516	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152081516G>A	uc009wne.1	-	2	4449	c.4177C>T	c.(4177-4179)Ctt>Ttt	p.L1393F	TCHH_uc001ezp.2_Missense_Mutation_p.L1393F	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1393	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCTTAAGGAATTTTCTC	0.587000														166			20		0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8049772	8049772	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:8049772G>A	uc002gkd.3	-	15	2194	c.1956C>T	c.(1954-1956)gcC>gcT	p.A652A	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Silent_p.A636A	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	652	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGAGGAGGAGGCACATTTAC	0.592000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						43			21		0	0	1	0	0
UBE2J2	118424	broad.mit.edu	37	1	1203257	1203257	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1203257G>A	uc001adp.3	-	1	305	c.116C>T	c.(115-117)tCg>tTg	p.S39L	UBE2J2_uc001adm.3_5'UTR|UBE2J2_uc001ado.3_Missense_Mutation_p.S39L|UBE2J2_uc001adq.3_5'UTR|UBE2J2_uc001adr.3_Intron	NM_058167	NP_919440	Q8N2K1	UB2J2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2, J2 (UBE2J2), transcript variant 2, mRNA.	39					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.P38H(1)|p.S39S(1)		cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		GAGAATATTCGAAGGGAGGGG	0.632000														197			59		0	0	1	0	0
GALNT11	63917	broad.mit.edu	37	7	151791331	151791331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:151791331C>T	uc010lqg.1	+	1	249	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	GALNT11_uc011kvm.1_Intron|GALNT11_uc003wku.2_Missense_Mutation_p.R7W|GALNT11_uc003wkv.1_Missense_Mutation_p.R7W|GALNT11_uc011kvn.1_Non-coding_Transcript	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA.	7						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TGTCACAGTTCGGTATTTCTG	0.368000														297			141		0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724971	49724972	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49724971_49724972CC>AT	uc009zlh.3	+	12	2510_2511	c.2343_2344CC>AT	c.(2341-2346)ctccct>ctATct	p.P782S	TROAP_uc001rtx.4_Intron	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	0					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCCCAGACCTCCCTCTAAATTT	0.584000														27			11		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49823439	49823439	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:49823439G>A	uc002efs.3	-	2	333	c.35C>T	c.(34-36)tCa>tTa	p.S12L		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	12					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CGAGAAGTCTGAGGCCTCCCC	0.582000														35			23		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15978098	15978098	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:15978098G>A	uc010lsu.3	-	8	1169	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*	MSR1_uc003wwz.3_Nonsense_Mutation_p.R351*|MSR1_uc003wxa.3_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	351	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.R351R(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCGACCAGTCGAACTTTCGTA	0.453000														55			22		0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117297532	117297532	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:117297532G>A	uc001egu.4	+	1	370	c.341G>A	c.(340-342)gGa>gAa	p.G114E	CD2_uc010owz.1_Missense_Mutation_p.G114E|CD2_uc010oxa.1_Missense_Mutation_p.G114E	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	114	Ig-like V-type.|LFA-3 (CD58) binding region 2.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GATACAAAAGGAAAAAATGTG	0.308000														45			7		0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219521016	219521016	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219521016G>A	uc002vin.3	-	3	573	c.137C>T	c.(136-138)tCc>tTc	p.S46F	ZNF142_uc002vil.3_5'UTR|ZNF142_uc010fvt.3_5'UTR|ZNF142_uc002vim.3_5'UTR	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGGTCCCGGGAAGGACAGGG	0.602000														60			35		0	0	1	0	0
C12orf77	196415	broad.mit.edu	37	12	25148783	25148783	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:25148783T>A	uc001rgf.3	-	2	570	c.365A>T	c.(364-366)aAa>aTa	p.K122I		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	Homo sapiens chromosome 12 open reading frame 77 (C12orf77), mRNA.	122										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TGGGTTTCTTTTTGTAAAGTC	0.408000														40			20		0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36017667	36017667	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36017667C>T	uc002oad.2	-	0	1587	c.1517G>A	c.(1516-1518)gGa>gAa	p.G506E	SBSN_uc002oae.2_Missense_Mutation_p.G163E|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	163						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CACTTCCTTTCCAGCCTGGTC	0.592000														89			10		0	0	1	0	0
TSGA10	80705	broad.mit.edu	37	2	99634720	99634720	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:99634720G>A	uc002szg.4	-	17	2643	c.2015C>T	c.(2014-2016)tCa>tTa	p.S672L	TSGA10_uc002szh.4_Missense_Mutation_p.S672L|TSGA10_uc002szi.4_Missense_Mutation_p.S672L|TSGA10_uc010fin.1_Missense_Mutation_p.S672L	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	672	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ACGTTCTGGTGAATGACATTT	0.418000														63			18		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60751500	60751500	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:60751500G>A	uc002jad.3	+	8	1940	c.1538G>A	c.(1537-1539)gGg>gAg	p.G513E	MRC2_uc010ddq.1_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	513					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CTGAGCCAGGGGGCCGCCGAG	0.637000														2			3		0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704941	52704941	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:52704941C>T	uc001cto.3	+	3	2024	c.1852C>T	c.(1852-1854)Ctt>Ttt	p.L618F	ZFYVE9_uc001ctn.3_Missense_Mutation_p.L618F|ZFYVE9_uc001ctp.3_Missense_Mutation_p.L618F	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	618					SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AAATGATATTCTTGGGAAAGC	0.328000														117			12		0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7684729	7684729	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7684729G>A	uc002mgx.3	-	17	2436	c.2410C>T	c.(2410-2412)Cgg>Tgg	p.R804W		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	804					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						AGCTCCTCCCGGGAGGCGTCA	0.682000								Direct reversal of damage;Nucleotide excision repair (NER)						128			35		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90129102	90129102	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90129102C>T	uc002boe.3	+	3	1340	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F	C15orf42_uc021sug.1_Missense_Mutation_p.S446F	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	447					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GACACAGCTTCCCTTTTCTCA	0.483000														72			84		0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44052128	44052128	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:44052128G>A	uc002rtn.3	-	6	944	c.804C>T	c.(802-804)ttC>ttT	p.F268F	ABCG5_uc002rtm.3_Intron|ABCG5_uc002rto.3_Intron|ABCG5_uc002rtp.3_Intron	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	268	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCAGCTCTCCGAAGCTCAGGA	0.458000														34			13		0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95606880	95606880	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:95606880G>A	uc003uoc.4	+	6	875	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	DYNC1I1_uc003uod.4_Missense_Mutation_p.E183K|DYNC1I1_uc003uob.3_Missense_Mutation_p.E163K|DYNC1I1_uc003uoe.4_Missense_Mutation_p.E180K|DYNC1I1_uc010lfl.3_Missense_Mutation_p.E189K	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	200					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)			CTCAGAACTGGAAAATCAGGA	0.323000														41			5		0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7862555	7862555	+	Missense_Mutation	SNP	C	T	T	rs150526011	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7862555C>T	uc003mxu.4	+	3	1206	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	343			A -> D (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.A343D(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CACCCCCGAGCCGCAGGCCTG	0.532000														134			55		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75444658	75444658	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:75444658C>T	uc001sxg.1	-	2	1671	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	KCNC2_uc009zry.3_Missense_Mutation_p.R376Q|KCNC2_uc001sxe.3_Missense_Mutation_p.R376Q|KCNC2_uc001sxf.3_Missense_Mutation_p.R376Q|KCNC2_uc010stw.1_Missense_Mutation_p.R376Q	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	376					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R376*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AGTACTAGCTCGAAGAGTATG	0.453000														48			6		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141006949	141006949	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:141006949C>T	uc004cog.3	+	38	5667	c.5522C>T	c.(5521-5523)cCc>cTc	p.P1841L	CACNA1B_uc022bqn.1_Missense_Mutation_p.P1841L|CACNA1B_uc004coi.3_Missense_Mutation_p.P1055L|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Missense_Mutation_p.P123L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1843					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTGGTACCACCCCATAAGCGT	0.577000														28			15		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3319150	3319150	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:3319150C>T	uc003ggw.3	+	1	2157	c.1253C>T	c.(1252-1254)aCc>aTc	p.T418I	RGS12_uc003ggu.2_Missense_Mutation_p.T418I|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.T418I|RGS12_uc003ggx.1_Missense_Mutation_p.T418I	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	418						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AACAACAGCACCAGCAGCAAC	0.617000														74			31		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48698262	48698262	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48698262G>A	uc003cuf.1	-	2	2016	c.2016C>T	c.(2014-2016)atC>atT	p.I672I	CELSR3_uc003cul.3_Silent_p.I602I	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	602	Cadherin 4.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCACCACCTGGATCTCGCCAG	0.607000														23			8		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112732956	112732956	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:112732956G>A	uc002thk.1	+	6	1173	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T	MERTK_uc002thl.1_Missense_Mutation_p.A175T	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	351	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCAGCTGCAAGCCCTGGCTAA	0.473000														142			63		0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854443	53854443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53854443C>T	uc010ydv.1	+	3	632	c.515C>T	c.(514-516)tCg>tTg	p.S172L	ZNF845_uc010ydw.1_Missense_Mutation_p.S172L	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AACAGTGCTTCGTTGGTTTCA	0.393000														115			44		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94495007	94495007	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94495007G>A	uc001dqh.3	-	29	4637	c.4533C>T	c.(4531-4533)ccC>ccT	p.P1511P		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1511					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)		GTACCTGGGGGGGCGGGAGGC	0.627000														5			6		0	0	1	0	0
MPPE1	65258	broad.mit.edu	37	18	11886545	11886545	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:11886545G>A	uc002kqf.3	-	8	1616	c.820C>T	c.(820-822)Cca>Tca	p.P274S	MPPE1_uc002kqg.3_Non-coding_Transcript|MPPE1_uc002kqh.3_Non-coding_Transcript|MPPE1_uc002kqi.3_Non-coding_Transcript|MPPE1_uc002kqn.3_Intron|MPPE1_uc002kqm.3_Intron|MPPE1_uc010dla.2_Missense_Mutation_p.P275S	NM_023075	NP_075563	Q53F39	MPPE1_HUMAN	Homo sapiens metallophosphoesterase 1 (MPPE1), transcript variant 1, mRNA.	274					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	ER-Golgi intermediate compartment membrane|cis-Golgi network|endoplasmic reticulum exit site|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						TCCTTAAATGGGATGTCCCTT	0.507000														51			26		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111109730	111109730	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:111109730C>T	uc001vqx.3	+	20	1669	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	460	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GAAGAGCAGGCTTCCCTGGGC	0.617000														42			11		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63047835	63047835	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:63047835C>T	uc002alb.4	+	33	4581	c.4581C>T	c.(4579-4581)ttC>ttT	p.F1527F	TLN2_uc002alc.4_5'UTR|TLN2_uc002ald.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1527					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGAGGCACTTCGTCCAGTCAG	0.562000														68			14		0	0	1	0	0
TTYH1	57348	broad.mit.edu	37	19	54930377	54930377	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54930377C>T	uc002qfr.3	+	1	324	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	TTYH1_uc010yey.2_Missense_Mutation_p.R117C|TTYH1_uc002qfq.3_Missense_Mutation_p.R68C|TTYH1_uc002qft.3_Missense_Mutation_p.R68C|TTYH1_uc002qfu.1_5'UTR	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN	Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA.	68					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CTACCTCATCCGCTTCTGCTG	0.687000														97			35		0	0	1	0	0
METTL22	79091	broad.mit.edu	37	16	8738571	8738571	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:8738571C>T	uc002cyz.3	+	9	1444	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F	METTL22_uc021tcq.1_Non-coding_Transcript|BX537921_uc002czb.3_5'Flank	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	Homo sapiens methyltransferase like 22 (METTL22), mRNA.	390							methyltransferase activity			large_intestine(5)|lung(4)	9						TTACGAGCGCCTCCAGCAACT	0.632000														33			11		0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71825460	71825461	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:71825460_71825461GG>AA	uc004eax.4	-	23	2916_2917	c.2615_2616CC>TT	c.(2614-2616)ccc>cTT	p.P872L	PHKA1_uc004eay.4_Missense_Mutation_p.P872L|PHKA1_uc011mqi.2_Missense_Mutation_p.P813L	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	872					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GCGCCTCATAGGGCAGAGGTCT	0.391000														17			15		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15061169	15061170	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15061169_15061170CC>TT	uc002naa.1	-	8	1539_1540	c.1532_1533GG>AA	c.(1531-1533)ggg>gAA	p.G511E	SLC1A6_uc010dzu.1_Missense_Mutation_p.G433E|SLC1A6_uc010xod.1_Missense_Mutation_p.G447E	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	511					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CAATTGAGTCCCCCAGTACGTT	0.564000														50			22		0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74414831	74414831	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:74414831G>A	uc003dpm.1	-	7	1049	c.969C>T	c.(967-969)ctC>ctT	p.L323L		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	323	Ig-like C2-type 4.				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)		CATCCTTTATGAGTTGAACCC	0.398000														234			74		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20555588	20555588	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:20555588C>T	uc003gpr.1	+	25	2926	c.2722C>T	c.(2722-2724)Caa>Taa	p.Q908*	SLIT2_uc003gps.1_Nonsense_Mutation_p.Q900*	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	908	LRRCT 4.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATTTACCTGTCAAGGTATGGT	0.338000														71			30		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196865582	196865582	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196865582G>A	uc002utj.4	-	11	1300	c.1199C>T	c.(1198-1200)cCa>cTa	p.P400L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	400	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GATGAAACCTGGATGTTCAAA	0.323000														95			36		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20990669	20990669	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20990669C>T	uc010vbe.2	-	49	8059	c.8059G>A	c.(8059-8061)Gac>Aac	p.D2687N	DNAH3_uc010vbd.2_Missense_Mutation_p.D122N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2687	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTGCAAAGTCGAGTTTCTGC	0.512000														44			13		0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	219000422	219000422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219000422G>A	uc002vgz.2	+	3	1108	c.898G>A	c.(898-900)Gag>Aag	p.E300K	CXCR2_uc002vha.2_Missense_Mutation_p.E300K|CXCR2_uc002vhb.2_Missense_Mutation_p.E300K|CXCR2_uc021vwp.1_Missense_Mutation_p.E300K	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	300					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	p.T299T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GGATGCCACCGAGATTCTGGG	0.567000														104			31		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370494	56370494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56370494C>T	uc002qmd.4	+	2	2157	c.1735C>T	c.(1735-1737)Cat>Tat	p.H579Y	NLRP4_uc002qmf.3_Missense_Mutation_p.H504Y|NLRP4_uc010etf.3_Missense_Mutation_p.H410Y	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	579							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGCTAACTTTCATATTATTGA	0.428000														61			27		0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9609185	9609185	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:9609185C>T	uc003wss.3	+	18	2904	c.2899C>T	c.(2899-2901)Cct>Tct	p.P967S	TNKS_uc011kww.2_Missense_Mutation_p.P730S|TNKS_uc010lrt.1_Non-coding_Transcript	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	967					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CTGTTTTAAACCTCAGGCTAC	0.488000														247			44		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70934981	70934981	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:70934981C>T	uc002ezr.3	-	52	9122	c.8971G>A	c.(8971-8973)Gag>Aag	p.E2991K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2992										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)				TACTCAGCCTCAGGGGGGATG	0.572000														197			23		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42227377	42227377	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:42227377G>A	uc003ose.2	-	8	2592	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W	TRERF1_uc011duq.1_Missense_Mutation_p.R574W|TRERF1_uc003osb.2_Missense_Mutation_p.R413W|TRERF1_uc003osc.2_Missense_Mutation_p.R413W|TRERF1_uc003osd.2_Missense_Mutation_p.R657W	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	657	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGTTCCGGCCGGTGCCGGAAC	0.637000														87			12		0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79725486	79725486	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:79725486C>T	uc011dyp.2	-	13	1476	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	PHIP_uc003pir.3_Missense_Mutation_p.G417E	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	417					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATCTTCTATTCCTTGAAGGTT	0.303000														25			16		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185902943	185902943	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:185902943C>T	uc001grq.1	+	10	2044	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	605	Ig-like C2-type 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTCAGTTTTCCTCACAGTGC	0.398000														186			50		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156658	22156658	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22156658C>T	uc021urr.1	-	3	1327	c.1178G>A	c.(1177-1179)gGa>gAa	p.G393E	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)				GGGTTTCTCTCCAGTATGAAT	0.383000														77			7		0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179214050	179214050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179214050G>A	uc002uly.3	+	12	1706	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N	OSBPL6_uc002ulw.3_Missense_Mutation_p.D332N|OSBPL6_uc002ulx.3_Missense_Mutation_p.D363N|OSBPL6_uc010zfe.2_Missense_Mutation_p.D332N|OSBPL6_uc002ulz.3_Missense_Mutation_p.D363N|OSBPL6_uc002uma.3_Missense_Mutation_p.D367N	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	363					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCACCTCACTGACCCTCTGGA	0.438000														171			70		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17446114	17446114	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17446114C>T	uc002zlw.3	-	6	1441	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	445										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AAGGAGAGCTCATTGATGACC	0.567000														40			8		0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86386565	86386565	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:86386565C>T	uc003ydk.2	+	3	544	c.364C>T	c.(364-366)Cac>Tac	p.H122Y		NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	122					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TCACTTGGTTCACTGGAACAC	0.408000														149			67		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16910720	16910720	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16910720G>A	uc002neu.4	+	16	3905	c.3483G>A	c.(3481-3483)ggG>ggA	p.G1161G	NWD1_uc002net.4_Silent_p.G1026G|NWD1_uc002nev.4_Silent_p.G955G|NWD1_uc021uqg.1_Silent_p.G1026G	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1161							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						CAGAACAGGGGACCCTTCTGG	0.577000														46			20		0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179302048	179302048	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:179302048G>A	uc003mlh.3	-	11	2075	c.2040C>T	c.(2038-2040)ccC>ccT	p.P680P	TBC1D9B_uc003mli.3_Silent_p.P680P|TBC1D9B_uc003mlj.3_Silent_p.P680P|TBC1D9B_uc011dgv.2_5'Flank	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	680	Rab-GAP TBC.					integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCTCTCGAAGGGCATGACGC	0.607000														71			30		0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2983282	2983282	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2983282G>A	uc001qlf.3	-	1	646	c.363C>T	c.(361-363)ctC>ctT	p.L121L	FOXM1_uc001qle.3_Silent_p.L121L|FOXM1_uc009zea.3_Silent_p.L121L|FOXM1_uc009zeb.3_Silent_p.L121L|FOXM1_uc001qlg.3_Silent_p.L121L	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	121					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TTTGAGGCCGGAGTCCTGGAG	0.542000														99			36		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91779643	91779643	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:91779643C>T	uc010aty.3	-	14	2671	c.2517G>A	c.(2515-2517)aaG>aaA	p.K839K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	839					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCTTGGCCTCCTTCTCCAGCA	0.627000														94			31		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990197	15990197	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15990197C>T	uc002nbs.1	-	11	1406	c.1356G>A	c.(1354-1356)gaG>gaA	p.E452E	CYP4F2_uc010xot.1_Silent_p.E303E	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	452					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAGGTGACCTCTCCTTGATGT	0.602000														186			65		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212685	26212685	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:26212685C>T	uc022buc.1	+	0	722	c.722C>T	c.(721-723)tCc>tTc	p.S241F	MAGEB6_uc004dbr.3_Missense_Mutation_p.S241F	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	241	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AACAGAACCTCCCAACATTTG	0.498000														14			33		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242399	126242399	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126242399G>A	uc003ifj.4	+	0	4833	c.4833G>A	c.(4831-4833)agG>agA	p.R1611R		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1611	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGAAAGGAGGAAATCGACCA	0.438000														122			42		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82578909	82578909	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82578909G>A	uc003uhx.2	-	5	11284	c.10995C>T	c.(10993-10995)ccC>ccT	p.P3665P	PCLO_uc003uhv.2_Silent_p.P3665P|PCLO_uc010lec.3_Silent_p.P630P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3596					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						GACTTGCTGGGGGAACTTTAG	0.478000														284			27		0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113038	18113038	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:18113038C>T	uc021veh.1	+	0	763	c.763C>T	c.(763-765)Ctg>Ttg	p.L255L	KCNS3_uc002rcv.3_Silent_p.L255L|KCNS3_uc002rcw.3_Silent_p.L255L	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	255					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAAAAACCCTCTGAACATCAT	0.512000														136			31		0	0	1	0	0
DMRTA1	63951	broad.mit.edu	37	9	22451350	22451350	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:22451350C>T	uc003zpp.1	+	1	1180	c.955C>T	c.(955-957)Ctt>Ttt	p.L319F		NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN	Homo sapiens DMRT-like family A1 (DMRTA1), mRNA.	319					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		CAAGGCAAGCCTTCCGACAGT	0.478000														49			6		0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96971770	96971770	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96971770C>T	uc001kke.3	+	5	1016	c.891C>T	c.(889-891)ttC>ttT	p.F297F	C10orf129_uc009xuu.1_Silent_p.F207F	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	297					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TGCCAACCTTCTGCCCTGAGA	0.502000														51			19		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70087514	70087514	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70087514G>A	uc001svg.3	-	3	648	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	BEST3_uc001svd.2_Missense_Mutation_p.R141C|BEST3_uc010stm.2_Missense_Mutation_p.R35C|BEST3_uc001svi.1_Non-coding_Transcript	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	141						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CTCACCGAGCGAAAGATGAGC	0.532000														68			31		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56545017	56545017	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56545017G>A	uc002qmj.3	+	8	2557	c.2557G>A	c.(2557-2559)Gat>Aat	p.D853N	NLRP5_uc002qmi.3_Missense_Mutation_p.D834N	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	853						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAAGGAAGAGGATGTAAGGAT	0.483000														199			74		0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40814611	40814611	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:40814611G>A	uc003ayv.1	-	8	2038	c.1831C>T	c.(1831-1833)Cct>Tct	p.P611S	MKL1_uc010gyf.1_Missense_Mutation_p.P561S|MKL1_uc003ayw.1_Missense_Mutation_p.P611S|MKL1_uc010gye.1_Missense_Mutation_p.P611S	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	611	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						ACAGCACAAGGGTCTATGTGG	0.701000			T	RBM15	acute megakaryocytic leukemia									24			8		0	0	1	0	0
C1orf192	257177	broad.mit.edu	37	1	161334873	161334873	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161334873C>T	uc001gal.3	-	4	422	c.416G>A	c.(415-417)cGa>cAa	p.R139Q		NM_001013625	NP_001013647	Q5VTH2	CA192_HUMAN	Homo sapiens chromosome 1 open reading frame 192 (C1orf192), mRNA.	139										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGTTGGACTTCGTGCTTGTTG	0.488000														87			32		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116339546	116339546	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:116339546C>T	uc003vij.3	+	1	595	c.408C>T	c.(406-408)gtC>gtT	p.V136V	MET_uc022akk.1_Silent_p.V136V|MET_uc010lkh.3_Silent_p.V136V|MET_uc011knc.1_Silent_p.V136V|MET_uc011knd.2_Silent_p.V136V|MET_uc011knf.2_Silent_p.V136V|MET_uc011kne.2_Silent_p.V136V|MET_uc011kng.1_Silent_p.V136V|MET_uc011knh.1_Silent_p.V136V|MET_uc011kni.2_Silent_p.V136V|MET_uc003vii.1_Silent_p.V155V|MET_uc010lkg.3_Silent_p.V136V|MET_uc011kmz.1_Silent_p.V136V|MET_uc011kna.1_Silent_p.V136V|MET_uc011knb.1_Silent_p.V136V	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	136	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.V136I(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTGGCAGCGTCAACAGAGGGA	0.473000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					174			17		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49166090	49166090	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49166090G>A	uc001rsh.4	-	16	3435	c.2775C>T	c.(2773-2775)ctC>ctT	p.L925L	ADCY6_uc001rsi.4_Silent_p.L872L|ADCY6_uc001rsj.4_Silent_p.L925L|ADCY6_uc010slw.1_Silent_p.L156L|MIR4701_uc021qxl.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	925					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.F924F(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GTAGTTTCCAGAGGAAGTCTA	0.567000														79			12		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060232	54060233	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:54060232_54060233CC>TT	uc001cvr.1	-	2	910_911	c.343_344GG>AA	c.(343-345)ggc>AAc	p.G115N		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	115					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CTTGGAAGGGCCCCCCAGATCT	0.644000														51			10		0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47958661	47958661	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:47958661G>A	uc003csb.2	-	6	1182	c.656C>T	c.(655-657)cCc>cTc	p.P219L	MAP4_uc003csc.3_Missense_Mutation_p.P219L|MAP4_uc011bbf.1_Missense_Mutation_p.P196L|MAP4_uc003csf.3_Missense_Mutation_p.P236L	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	219					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TAGCTCTAAGGGAACTAAATT	0.413000														109			37		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87045064	87045064	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:87045064C>T	uc009wcs.3	+	12	2194	c.2150C>T	c.(2149-2151)cCt>cTt	p.P717L	CLCA4_uc009wct.3_Missense_Mutation_p.P480L|CLCA4_uc009wcu.3_Missense_Mutation_p.P537L	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	717						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			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)		CCGCCAAGACCTGAAATTGAT	0.438000														67			32		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467212	10467212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10467212C>T	uc003wtc.3	-	3	4625	c.4396G>A	c.(4396-4398)Gag>Aag	p.E1466K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1466					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)		CTCTGCCTCTCGCTGGCACTT	0.657000														78			40		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12711222	12711222	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12711222G>A	uc001auf.3	+	1	249	c.249G>A	c.(247-249)aaG>aaA	p.K83K		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	83						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GAATTAAAAAGGACCCTGAAC	0.483000														114			45		0	0	1	0	0
LY6D	8581	broad.mit.edu	37	8	143867029	143867029	+	Missense_Mutation	SNP	G	A	A	rs144613234		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:143867029G>A	uc003yxf.1	-	1	203	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C		NM_003695	NP_003686	Q14210	LY6D_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus D (LY6D), mRNA.	43	UPAR/Ly6.				cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding			large_intestine(1)|lung(3)|prostate(1)	5	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)					TTGCAGAAGCGAGAGCTGGCC	0.637000														51			33		0	0	1	0	0
AK2	204	broad.mit.edu	37	1	33478956	33478956	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:33478956G>A	uc001bwp.2	-	5	629	c.546C>T	c.(544-546)gcC>gcT	p.A182A	BC036308_uc001bwn.3_Intron|AK2_uc001bwq.2_Silent_p.A134A|AK2_uc010ohq.2_Silent_p.A174A|AK2_uc001bwo.2_Silent_p.A182A|AK2_uc009vud.2_Silent_p.A140A|AK2_uc010ohr.2_Silent_p.A134A	NM_001625	NP_001616	P54819	KAD2_HUMAN	Homo sapiens adenylate kinase 2 (AK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	182					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	ATP binding|adenylate kinase activity			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GGATTTTCAAGGCCTTTTCAT	0.512000														36			24		0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67508495	67508495	+	Missense_Mutation	SNP	C	T	T	rs76231229	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:67508495C>T	uc002lkl.3	+	7	1069	c.872C>T	c.(871-873)tCg>tTg	p.S291L		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	291							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GGGTTTGGTTCGTCAAAGATG	0.473000														128			54		0	0	1	0	0
ZNF317	57693	broad.mit.edu	37	19	9271434	9271434	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9271434C>T	uc002mku.3	+	6	1418	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	ZNF317_uc002mkv.3_Silent_p.F230F|ZNF317_uc002mkw.3_Silent_p.F339F|ZNF317_uc002mkx.3_Silent_p.F286F|ZNF317_uc002mky.3_Silent_p.F254F	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCAAAGCCTTCCGCTGGAAGT	0.537000														27			9		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2711054	2711054	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2711054C>T	uc009zdu.1	+	22	3261	c.2948C>T	c.(2947-2949)tCt>tTt	p.S983F	CACNA1C_uc001qkc.2_Missense_Mutation_p.S963F|CACNA1C_uc001qjz.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkd.2_Missense_Mutation_p.S963F|CACNA1C_uc001qke.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkf.2_Missense_Mutation_p.S963F|CACNA1C_uc009zdw.1_Missense_Mutation_p.S963F|CACNA1C_uc001qkg.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkh.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkl.2_Missense_Mutation_p.S983F|CACNA1C_uc001qkj.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkk.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkn.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkm.2_Missense_Mutation_p.S963F|CACNA1C_uc001qko.2_Missense_Mutation_p.S983F|CACNA1C_uc001qkp.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkq.2_Missense_Mutation_p.S963F|CACNA1C_uc001qku.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkr.2_Missense_Mutation_p.S963F|CACNA1C_uc001qks.2_Missense_Mutation_p.S963F|CACNA1C_uc001qkt.2_Missense_Mutation_p.S963F|CACNA1C_uc009zdv.1_Missense_Mutation_p.S960F|CACNA1C_uc001qkb.2_Missense_Mutation_p.S963F|CACNA1C_uc001qka.1_Missense_Mutation_p.S498F|CACNA1C_uc001qki.1_Missense_Mutation_p.S699F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	983					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.S498Y(1)|p.S963Y(1)|p.S1013Y(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CACAAGGGTTCTTTCTGCCGG	0.577000														42			17		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432383	104432383	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104432383C>T	uc004bbp.2	-	2	2912	c.2311G>A	c.(2311-2313)Gag>Aag	p.E771K	GRIN3A_uc004bbq.1_Missense_Mutation_p.E771K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	771					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TAGATCTTCTCACCTACCATG	0.383000														71			39		0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6312194	6312195	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6312194_6312195GG>AA	uc002mel.2	-	2	393_394	c.315_316CC>TT	c.(313-318)ccccgc>ccTTgc	p.R106C		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	106						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						AAATAGCAGCGGGGCATCCATA	0.584000														46			14		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93839179	93839179	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:93839179G>A	uc001pep.2	+	16	3085	c.2928G>A	c.(2926-2928)ggG>ggA	p.G976G	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	976	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGATTTTTGGGAATCTCCATG	0.333000														37			15		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832642	24832642	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:24832642G>A	uc001iru.4	+	18	4846	c.4443G>A	c.(4441-4443)gaG>gaA	p.E1481E	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Silent_p.E1164E|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Silent_p.E317E	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1481					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						aaaagatagaggaggaggaag	0.448000														51			6		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91780176	91780176	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:91780176C>T	uc010aty.3	-	14	2138	c.1984G>A	c.(1984-1986)Gag>Aag	p.E662K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	662					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCCAGGGCCTCGACTTTCTCG	0.632000														22			5		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141025	143141025	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143141025C>T	uc011ktg.2	+	0	480	c.480C>T	c.(478-480)ttC>ttT	p.F160F	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	160					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TTCTATTTTTCATAGGCAACC	0.453000														170			55		0	0	1	0	0
HTR7P1	93164	broad.mit.edu	37	12	13155411	13155411	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:13155411C>T	uc010shq.2	+	0		c.2036C>T			HEBP1_uc001rbd.3_5'Flank|HTR7P1_uc001rbh.3_Intron					Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 pseudogene 1 (HTR7P1), non-coding RNA.																		GCAGCGACTACCTTGGGGATC	0.527000														17			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179644044	179644044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179644044C>T	uc021vsy.1	-	22	4100	c.3875G>A	c.(3874-3876)gGa>gAa	p.G1292E	TTN_uc021vsz.1_Missense_Mutation_p.G1246E|TTN_uc021vta.1_Missense_Mutation_p.G1246E|TTN_uc021vtb.1_Missense_Mutation_p.G1246E|TTN_uc002unb.2_Missense_Mutation_p.G1292E|AK123298_uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1292	Ig-like 5.						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)			TGAATCAAATCCTGATTCAAC	0.328000														54			12		0	0	1	0	0
PNMT	5409	broad.mit.edu	37	17	37826205	37826205	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:37826205G>A	uc002hsi.1	+	3	633	c.411_splice	c.e3-1	p.G137_splice		NM_002686	NP_002677	P11086	PNMT_HUMAN	Homo sapiens phenylethanolamine N-methyltransferase (PNMT), mRNA.	137					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCTGCACAGGGAATGCTGGCA	0.652000														51			8		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99944898	99944898	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:99944898G>A	uc001pga.3	+	12	1956	c.1452G>A	c.(1450-1452)ctG>ctA	p.L484L	CNTN5_uc009ywv.2_Silent_p.L484L|CNTN5_uc001pfz.3_Silent_p.L484L|CNTN5_uc021qpb.1_Silent_p.L484L|CNTN5_uc021qpc.1_Silent_p.L410L	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	484	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.L484L(3)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTTTTGCACTGAATCAACTGA	0.373000														34			5		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38646359	38646359	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38646359G>A	uc021wvo.1	-	9	1431	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F	SCN5A_uc021wvk.1_Missense_Mutation_p.S460F|SCN5A_uc021wvl.1_Missense_Mutation_p.S460F|SCN5A_uc021wvm.1_Missense_Mutation_p.S460F|SCN5A_uc021wvn.1_Missense_Mutation_p.S460F|SCN5A_uc021wvp.1_Missense_Mutation_p.S460F|SCN5A_uc021wvq.1_Missense_Mutation_p.S460F|SCN5A_uc021wvr.1_Missense_Mutation_p.S460F|SCN5A_uc021wvs.1_Missense_Mutation_p.S460F|SCN5A_uc021wvt.1_Missense_Mutation_p.S460F|SCN5A_uc021wvu.1_Missense_Mutation_p.S460F|SCN5A_uc021wvv.1_Missense_Mutation_p.S460F|SCN5A_uc021wvj.1_Missense_Mutation_p.S326F|SCN5A_uc021wvi.1_Missense_Mutation_p.S326F|SCN5A_uc021wvw.1_Missense_Mutation_p.S71F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	460					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CATCTCCAAGGAGCTACGGGA	0.547000														22			9		0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17418070	17418070	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:17418070G>A	uc010hev.3	-	10	912	c.648C>T	c.(646-648)gtC>gtT	p.V216V	TBC1D5_uc003cbf.3_Silent_p.V216V|TBC1D5_uc003cbe.3_Silent_p.V216V|TBC1D5_uc010hew.1_Silent_p.V168V	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	216	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CACAGTGAAGGACAAAGACTA	0.418000														67			19		0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16328098	16328098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:16328098G>A	uc003nbt.3	-	7	1415	c.444C>T	c.(442-444)atC>atT	p.I148I	ATXN1_uc010jpi.3_Silent_p.I148I|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	148					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CGGTTGGGGGGATCAGCTGTG	0.632000														96			32		0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116862069	116862069	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:116862069C>T	uc003vin.3	+	14	1805	c.1591C>T	c.(1591-1593)Ctc>Ttc	p.L531F	ST7_uc011knl.2_Missense_Mutation_p.L508F|ST7_uc003vio.3_Missense_Mutation_p.L508F|ST7_uc003viq.3_Missense_Mutation_p.L485F|ST7_uc011knm.2_Missense_Mutation_p.L488F|ST7_uc003vir.3_Missense_Mutation_p.L451F	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	Homo sapiens suppression of tumorigenicity 7 (ST7), transcript variant b, mRNA.	531						integral to membrane	binding	p.A530V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CATGCTGGCCCTCCTGACACA	0.507000														92			27		0	0	1	0	0
AK125237	0	broad.mit.edu	37	10	27577691	27577691	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:27577691G>A	uc001itt.1	+	3		c.581G>A								Homo sapiens cDNA FLJ43247 fis, clone HEART2000611.																		CCATCGTCAGGAAGCAAGTGC	0.403000														51			8		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294372	25294372	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:25294372G>A	uc003abg.2	+	19	2778	c.2621G>A	c.(2620-2622)aGc>aAc	p.S874N	SGSM1_uc010guu.1_Missense_Mutation_p.S819N|SGSM1_uc003abh.2_Missense_Mutation_p.S813N|SGSM1_uc003abj.2_Missense_Mutation_p.S758N|SGSM1_uc003abi.1_Missense_Mutation_p.S794N	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	874	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGCTGGAGGAGCAGCGAGACA	0.592000														92			11		0	0	1	0	0
LOC407835	407835	broad.mit.edu	37	7	128766894	128766894	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128766894C>G	uc003voo.3	+	0	570	c.323C>G	c.(322-324)cCg>cGg	p.P108R						Homo sapiens mitogen-activated protein kinase kinase 2 pseudogene (LOC407835), non-coding RNA.																		GAGATCAAGCCGGCCATCCGG	0.617000														32			15		0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53157793	53157793	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:53157793G>A	uc003dgj.3	-	2	267	c.213C>T	c.(211-213)ctC>ctT	p.L71L		NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA.	71					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		TGCCCCCACTGAGACATGCTC	0.537000														46			19		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170003441	170003441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170003441C>T	uc002ues.3	-	68	12832	c.12619G>A	c.(12619-12621)Gaa>Aaa	p.E4207K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4207					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATTTTAGGTTCCTTTCCCCAG	0.473000														33			12		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175117	140175117	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140175117G>A	uc003lhd.2	+	0	674	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E190K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E190K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	205	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.E190K(4)		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)			TGAACTAAGCGAATCTTTGTC	0.458000														93			38		0	0	1	0	0
OR9G9	390174	broad.mit.edu	37	11	56468546	56468546	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56468546C>T	uc010rjn.2	+	0	683	c.683C>T	c.(682-684)tCc>tTc	p.S228F	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TTGAGGATCTCCTCCTCCAAG	0.512000														214			42		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43503703	43503703	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43503703G>A	uc001zrb.4	-	3	850	c.550C>T	c.(550-552)Cag>Tag	p.Q184*	EPB42_uc001zqz.4_5'Flank|EPB42_uc001zra.4_Nonsense_Mutation_p.Q154*|EPB42_uc010udm.2_Nonsense_Mutation_p.Q76*	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	154					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TCCATGCGCTGAGCCTCATTC	0.582000														89			30		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104071293	104071293	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:104071293G>A	uc001tjw.3	+	24	2895	c.2709G>A	c.(2707-2709)ggG>ggA	p.G903G		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	903	EGF-like 8.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTTGGACAGGGAATGGGAGAG	0.572000														103			30		0	0	1	0	0
NR4A1	3164	broad.mit.edu	37	12	52451249	52451249	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52451249C>T	uc001rzs.3	+	6	1794	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	NR4A1_uc010sno.2_Missense_Mutation_p.S505F|NR4A1_uc001rzt.3_Missense_Mutation_p.S492F|NR4A1_uc009zmc.3_Missense_Mutation_p.P106S	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	492					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TTCTCAAGGTCCCTGCACAGC	0.602000														58			10		0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101583015	101583015	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:101583015G>A	uc003knm.3	-	9	2039	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	584					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTACAATAAAGAAAATGCAAA	0.358000														86			54		0	0	1	0	0
BIRC3	330	broad.mit.edu	37	11	102201741	102201741	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102201741G>A	uc001pgx.3	+	5	3888	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA.	365					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TATCCATTTTGAACCTGGAGA	0.328000			T	MALT1	MALT									55			26		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135779312	135779312	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:135779312G>A	uc002tue.1	-	1	142	c.111C>T	c.(109-111)atC>atT	p.I37I	YSK4_uc010fne.1_Silent_p.I9I|YSK4_uc002tuf.1_Silent_p.I37I|YSK4_uc010fnc.1_Silent_p.I37I|YSK4_uc010fnd.1_Silent_p.I37I|YSK4_uc010zbg.1_Silent_p.I37I|YSK4_uc002tui.4_Silent_p.I54I	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	37							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTTGCAAGATGATGTTTTGAT	0.373000														35			18		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197208454	197208454	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:197208454C>T	uc002utm.1	-	2	510	c.327G>A	c.(325-327)aaG>aaA	p.K109K	HECW2_uc002utl.1_5'UTR	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	109					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CACCCCTGTTCTTAGAATCCC	0.383000														191			70		0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123901226	123901226	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123901226G>A	uc001pzp.1	+	0	897	c.897G>A	c.(895-897)ttG>ttA	p.L299L		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAGCTCTGTTGAAGCTGAAAG	0.458000														81			30		0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26877949	26877949	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26877949C>T	uc001bmr.1	+	4	532	c.369C>T	c.(367-369)ttC>ttT	p.F123F	RPS6KA1_uc010ofe.1_Silent_p.F31F|RPS6KA1_uc010off.1_Silent_p.F107F|RPS6KA1_uc001bms.1_Silent_p.F132F|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.	123	Protein kinase 1.				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)		ATCACCCATTCGTGGTGAAGC	0.567000														31			12		0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5247885	5247885	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5247885C>T	uc001mae.1	-	1	287	c.237G>A	c.(235-237)ctG>ctA	p.L79L	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	79			L -> R (in Quin-hai).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	p.L79M(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	TGAGGTTGTCCAGGTGAGCCA	0.542000									Sickle Cell Trait					109			25		0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2717932	2717932	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:2717932G>A	uc003zho.2	+	0	407	c.193G>A	c.(193-195)Gac>Aac	p.D65N		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	65						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CGAGGAGGAGGACCAGTGGAA	0.662000														52			5		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142238075	142238075	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:142238075G>A	uc002tvj.1	-	2	1205	c.233C>T	c.(232-234)cCc>cTc	p.P78L	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	78	LDL-receptor class A 2.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTGATTCAAGGGGCACTTGAT	0.408000										TSP Lung(27;0.18)				107			14		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515442	140515443	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140515442_140515443CC>TT	uc003liq.3	+	0	643_644	c.426_427CC>TT	c.(424-429)atccca>atTTca	p.P143S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	143	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.P143Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTAAAAATCCCAGAGAGCAC	0.441000														87			20		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997965	115997965	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:115997965C>T	uc003ibu.3	-	1	907	c.228G>A	c.(226-228)acG>acA	p.T76T	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	76	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CAGTAGGGTCCGTTTTGGATG	0.418000														81			41		0	0	1	0	0
TPPP3	51673	broad.mit.edu	37	16	67424131	67424131	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67424131G>A	uc002etb.3	-	3	622	c.477C>T	c.(475-477)ggC>ggT	p.G159G	TPPP3_uc002esz.3_Silent_p.G159G|TPPP3_uc002eta.3_Silent_p.G159G	NM_015964	NP_057224	Q9BW30	TPPP3_HUMAN	Homo sapiens tubulin polymerization-promoting protein family member 3 (TPPP3), mRNA.	159					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		CGCTCACGTAGCCACTGTCGT	0.627000														73			15		0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077169	19077169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:19077169G>A	uc001mph.3	-	1	869	c.781C>T	c.(781-783)Cat>Tat	p.H261Y	MRGPRX2_uc021qer.1_Missense_Mutation_p.H261Y	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	261					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GAAACTGGATGAATATGACAA	0.483000														87			34		0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24578591	24578591	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:24578591C>T	uc002dmh.3	+	14	2757	c.1717C>T	c.(1717-1719)Cct>Tct	p.P573S	RBBP6_uc010vcb.1_Missense_Mutation_p.P440S|RBBP6_uc002dmi.3_Missense_Mutation_p.P573S|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.P440S	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	573					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ccatacacttcctctccctcc	0.572000														192			18		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114289764	114289764	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:114289764G>A	uc004bff.2	+	1	313	c.89G>A	c.(88-90)aGa>aAa	p.R30K	ZNF483_uc011lwq.2_Missense_Mutation_p.R30K|ZNF483_uc004bfg.2_Missense_Mutation_p.R30K|ZNF483_uc010mud.1_Missense_Mutation_p.R30K	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	30					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GAGGTCCCAAGAGTGGTTACT	0.458000														56			41		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218683158	218683158	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:218683158G>A	uc002vgt.2	-	23	3983	c.3585C>T	c.(3583-3585)ttC>ttT	p.F1195F	TNS1_uc002vgr.2_Silent_p.F1182F|TNS1_uc002vgs.2_Silent_p.F1174F|TNS1_uc010zjv.1_Silent_p.F1174F	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1195						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCCGCCAGCCGAAGCCAGGAC	0.637000														66			37		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207642028	207642028	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207642028G>A	uc001hfw.3	+	2	721	c.602G>A	c.(601-603)gGa>gAa	p.G201E	CR2_uc001hfv.3_Missense_Mutation_p.G201E|CR2_uc009xch.3_Missense_Mutation_p.G201E|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	201	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTGTCTTCGGGAAAATGGAGT	0.418000														160			55		0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47601016	47601016	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:47601016G>A	uc001wwj.4	-	4	984	c.826C>T	c.(826-828)Cga>Tga	p.R276*	MDGA2_uc001wwi.4_5'UTR|MDGA2_uc010ani.3_5'UTR	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	207	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.V276L(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCCTGAGGTCGAAGATTCTTT	0.343000														44			19		0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158524020	158524020	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:158524020C>T	uc010jip.3	-	1	555	c.253G>A	c.(253-255)Gag>Aag	p.E85K	EBF1_uc011ddw.2_5'Flank|EBF1_uc011ddx.2_Missense_Mutation_p.E85K|EBF1_uc003lxl.4_Missense_Mutation_p.E85K	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	85					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGTCCTCTCGATCTCCACG	0.627000			T	HMGA2	lipoma									30			4		0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5545195	5545195	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:5545195G>A	uc003soo.2	-	1	179	c.85C>T	c.(85-87)Cta>Tta	p.L29L	FBXL18_uc003son.4_Silent_p.L29L	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	29	F-box.								FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GAGAACCCTAGGAGGTGGACC	0.552000														59			29		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17498204	17498204	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17498204G>A	uc001mnc.3	-	0	246	c.120C>T	c.(118-120)ctC>ctT	p.L40L	ABCC8_uc010rcy.1_Silent_p.L40L|ABCC8_uc021qej.1_Non-coding_Transcript	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	40					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGTGATGAAGAGTAGGAAGA	0.672000														26			6		0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103571339	103571339	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:103571339G>A	uc001ymk.3	+	5	1472	c.1396G>A	c.(1396-1398)Gct>Act	p.A466T		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	466										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GTTTGAAAAGGCTTTTCTGGC	0.657000											OREG0022947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			20		0	0	1	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960368	117960368	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:117960368G>A	uc004equ.3	+	3	1634	c.1161G>A	c.(1159-1161)agG>agA	p.R387R	ZCCHC12_uc022cdh.1_Silent_p.R387R	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						AGATGGAGAGGTCAAGAGTGG	0.498000														39			23		0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113565931	113565931	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113565931C>T	uc001tun.2	-	3	476	c.175G>A	c.(175-177)Gtg>Atg	p.V59M	RASAL1_uc010syp.2_Missense_Mutation_p.V59M|RASAL1_uc001tul.3_Missense_Mutation_p.V59M|RASAL1_uc001tum.2_Missense_Mutation_p.V59M|RASAL1_uc010syq.2_Missense_Mutation_p.V59M|RASAL1_uc001tuo.4_Missense_Mutation_p.V59M|RASAL1_uc010syr.2_Missense_Mutation_p.V59M	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	59	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GGCAGGTGCACCGTGTACTCC	0.617000														228			90		0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98109721	98109721	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:98109721C>T	uc011bgw.2	+	0	212	c.212C>T	c.(211-213)tCc>tTc	p.S71F		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGATGGATTCCTGCTGTTCC	0.393000														289			106		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96080179	96080179	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:96080179G>A	uc004ati.1	+	29	6764	c.6764G>A	c.(6763-6765)aGa>aAa	p.R2255K	WNK2_uc011lud.1_Intron|WNK2_uc004atj.3_Intron|WNK2_uc004atk.3_3'UTR	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	2255					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ACCGCCCGGAGAAACCAGGTG	0.682000														15			9		0	0	1	0	0
THOC6	79228	broad.mit.edu	37	16	3077236	3077236	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3077236C>T	uc002ctb.2	+	10	1061	c.765C>T	c.(763-765)ttC>ttT	p.F255F	HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Silent_p.F255F|THOC6_uc002cta.2_Silent_p.F231F	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	Homo sapiens THO complex 6 homolog (Drosophila) (THOC6), transcript variant 1, mRNA.	255					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CCACCATCTTCCCCATCCGGG	0.632000														93			25		0	0	1	0	0
C5orf22	55322	broad.mit.edu	37	5	31541450	31541450	+	Silent	SNP	C	T	T	rs142007850	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:31541450C>T	uc003jhj.4	+	5	1060	c.933C>T	c.(931-933)ttC>ttT	p.F311F	C5orf22_uc011cnw.1_Non-coding_Transcript|C5orf22_uc003jhk.4_Silent_p.F46F	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	Homo sapiens chromosome 5 open reading frame 22 (C5orf22), mRNA.	311										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						AAGCCACTTTCGCTGATTTGT	0.358000														72			7		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53201637	53201637	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53201637A>G	uc001saz.3	-	6	1359	c.1359T>C	c.(1357-1359)ctT>ctC	p.L453L		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	379						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CGGATACCTGAAGAGTCTGGC	0.577000														51			6		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28654823	28654823	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28654823C>T	uc002kwl.4	-	11	2168	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	DSC2_uc002kwk.4_Missense_Mutation_p.D572N	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	572	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GGGCTGTTATCATTCACGTCT	0.408000														32			19		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103629630	103629630	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:103629630G>A	uc022ajr.1	-	0	334	c.174C>T	c.(172-174)tcC>tcT	p.S58S	RELN_uc022ajq.1_Silent_p.S58S|RELN_uc010liz.3_Silent_p.S58S	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	58	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)		CAATATGCAGGGAAATGAGCA	0.652000														60			15		0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39895225	39895225	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:39895225G>A	uc003opb.3	-	0	231	c.93C>T	c.(91-93)ggC>ggT	p.G31G	MOCS1_uc003opa.3_Silent_p.G31G|MOCS1_uc003opd.3_Intron|MOCS1_uc003ope.3_Intron	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	29	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGAAGCATGGGCCCCTGCTAC	0.637000														11			9		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62516686	62516686	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62516686G>A	uc001dab.3	+	30	4195	c.4081G>A	c.(4081-4083)Gaa>Aaa	p.E1361K	INADL_uc009waf.1_Missense_Mutation_p.E1361K|INADL_uc001daa.2_Missense_Mutation_p.E1361K|INADL_uc001dad.3_Missense_Mutation_p.E1058K|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.E145K|INADL_uc009wag.3_Missense_Mutation_p.E145K|INADL_uc010oou.1_Missense_Mutation_p.E34K	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1361					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.V1360L(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGGCAGCGTCGAAGTTGGTAT	0.388000														36			13		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72340461	72340461	+	Missense_Mutation	SNP	G	A	A	rs141653211		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72340461G>A	uc002jkm.4	+	5	694	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	KIF19_uc002jkj.2_Missense_Mutation_p.E186K|KIF19_uc002jkk.2_Intron|KIF19_uc002jkl.2_Intron	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	186	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CGGCATCACCGAAGTCTCCAC	0.632000														25			10		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16376365	16376365	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16376365G>A	uc001axx.4	+	9	1058	c.922G>A	c.(922-924)Ggc>Agc	p.G308S	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_Missense_Mutation_p.G139S|CLCNKA_uc001axy.4_Missense_Mutation_p.G139S	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	308					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)	AATCTTCTTTGGCTTCATCAG	0.602000														139			73		0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18736157	18736157	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:18736157C>T	uc009yht.2	-	11	1736	c.1546G>A	c.(1546-1548)Gtg>Atg	p.V516M	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	516										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCGCTCTTCACTGTGGCCAGA	0.607000														53			21		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50468302	50468302	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:50468302G>A	uc003tow.4	+	7	1692	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	IKZF1_uc022acq.1_Missense_Mutation_p.E370K|IKZF1_uc003tpa.4_Missense_Mutation_p.E278K|IKZF1_uc022acr.1_Missense_Mutation_p.E288K|IKZF1_uc022acs.1_Missense_Mutation_p.E243K|IKZF1_uc022act.1_Missense_Mutation_p.E416K|IKZF1_uc022acu.1_Missense_Mutation_p.E426K|IKZF1_uc003tox.4_Missense_Mutation_p.E471K|IKZF1_uc022acv.1_Missense_Mutation_p.E374K|IKZF1_uc022acw.1_Missense_Mutation_p.E384K|IKZF1_uc022acx.1_Missense_Mutation_p.E426K|IKZF1_uc022acy.1_Missense_Mutation_p.E320K|IKZF1_uc022acz.1_Missense_Mutation_p.E330K|IKZF1_uc011kck.2_Missense_Mutation_p.E426K|IKZF1_uc003toy.4_Missense_Mutation_p.E471K|IKZF1_uc003toz.4_Missense_Mutation_p.E483K|IKZF1_uc010kyx.3_Missense_Mutation_p.E253K	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	513					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AACGCGAGGGGAGCACCGCTT	0.642000			"""D,T"""	BCL6	"""ALL, DLBCL"""									34			8		0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54776454	54776454	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:54776454C>T	uc004dtj.2	-	12	3846	c.3816G>A	c.(3814-3816)gtG>gtA	p.V1272V		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	1272					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TGCCTAGAATCACAGGCACAT	0.602000														5			17		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28149675	28149675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:28149675G>A	uc009xky.3	-	18	2998	c.2900C>T	c.(2899-2901)cCa>cTa	p.P967L	ARMC4_uc010qds.2_Missense_Mutation_p.P492L|ARMC4_uc010qdt.2_Missense_Mutation_p.P659L|ARMC4_uc001itz.3_Missense_Mutation_p.P967L	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	967							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACGCACTAGTGGAGCCACTGC	0.478000														66			27		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56087734	56087734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:56087734C>T	uc010giw.1	-	7	1516	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	CTCFL_uc010gix.1_Missense_Mutation_p.E469K|CTCFL_uc002xym.2_Missense_Mutation_p.E469K|CTCFL_uc010gjb.1_Missense_Mutation_p.E469K|CTCFL_uc010gja.1_Missense_Mutation_p.E419K|CTCFL_uc010gjc.1_Missense_Mutation_p.E469K|CTCFL_uc010gjd.1_Missense_Mutation_p.E469K|CTCFL_uc010gje.3_Missense_Mutation_p.E469K|CTCFL_uc010gjg.3_Missense_Mutation_p.E201K|CTCFL_uc010gjf.3_Missense_Mutation_p.E264K|CTCFL_uc010gjh.2_Intron|CTCFL_uc010gji.2_Missense_Mutation_p.E264K|CTCFL_uc010gjj.2_Missense_Mutation_p.E469K	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	469					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GCATAGCGTTCATGGAAGACA	0.443000														48			22		0	0	1	0	0
SNRPB	6628	broad.mit.edu	37	20	2443865	2443865	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:2443865G>A	uc002wfz.1	-	4	592	c.429C>T	c.(427-429)acC>acT	p.T143T	SNRPB_uc002wga.1_Silent_p.T143T|SNRPB_uc010zpv.2_Silent_p.T64T|SNRPB_uc002wgb.3_Silent_p.T143T|SNORD119_uc010gam.1_5'Flank	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	143					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						TTCCTTGTGGGGTCATCACCT	0.562000														41			15		0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31540583	31540583	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31540583C>T	uc011dnu.1	+	1	277	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	LTA_uc003nue.1_Silent_p.L22L|LTA_uc003nuf.3_5'Flank|LTA_uc003nuh.3_5'Flank|LTA_uc003nug.3_5'Flank|LTA_uc010jsr.3_5'Flank|TNF_uc003nui.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	22					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CCTCCTCCTTCTGGGGCTGCT	0.622000														78			24		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44575962	44575962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44575962C>T	uc003tlb.3	-	3	1803	c.1747G>A	c.(1747-1749)Gac>Aac	p.D583N	NPC1L1_uc011kbw.2_Missense_Mutation_p.D583N|NPC1L1_uc003tlc.3_Missense_Mutation_p.D583N|NPC1L1_uc003tld.3_Missense_Mutation_p.D583N	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	583					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)	AGACGGGGGTCCCCGGCAGGG	0.567000														70			28		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134144055	134144055	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:134144055G>A	uc003ytw.3	+	46	7904	c.7863_splice	c.e46-1	p.S2621_splice	TG_uc010mdw.3_Splice_Site_p.S1380_splice|TG_uc011ljb.2_Splice_Site_p.S990_splice|TG_uc011ljc.2_Splice_Site_p.S754_splice	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2621					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGTTTTCTCAGCCTGGAGCTG	0.463000														61			11		0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75015177	75015177	+	Missense_Mutation	SNP	C	T	T	rs77425771		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:75015177C>T	uc002ayp.4	-	1	384	c.262G>A	c.(262-264)Ggc>Agc	p.G88S	CYP1A1_uc010bjy.3_Missense_Mutation_p.G88S|CYP1A1_uc010bju.3_Intron|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Intron|CYP1A1_uc002ayq.4_Missense_Mutation_p.G88S|CYP1A1_uc010bjz.1_Intron|CYP1A1_uc021sqk.1_Missense_Mutation_p.G88S	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	88					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GTGTCCAGGCCGCTCAGCACC	0.617000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					67			20		0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100380631	100380631	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:100380631C>T	uc001ygr.3	+	14	1736	c.1667C>T	c.(1666-1668)cCc>cTc	p.P556L	EML1_uc010tww.2_Missense_Mutation_p.P525L|EML1_uc001ygs.3_Missense_Mutation_p.P537L	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	537			S -> P (in dbSNP:rs2250718).			cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GACTTCACACCCATTACTCAG	0.493000														72			27		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345534	92345534	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:92345534C>T	uc010tif.2	+	2	785	c.419C>T	c.(418-420)tCg>tTg	p.S140L		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	140						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCTGCTGCTTCGGTTCAGGAG	0.408000														105			94		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233486	21233486	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21233486C>T	uc002red.3	-	25	6382	c.6254G>A	c.(6253-6255)cGa>cAa	p.R2085Q		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2085	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATGGTTTGTCGATTCCTCTC	0.348000														77			21		0	0	1	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172585245	172585245	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:172585245C>T	uc002uha.1	+	13	1441	c.1276C>T	c.(1276-1278)Cat>Tat	p.H426Y	DYNC1I2_uc002uhb.1_Missense_Mutation_p.H400Y|DYNC1I2_uc010zds.1_Missense_Mutation_p.H418Y|DYNC1I2_uc002uhc.3_Missense_Mutation_p.H400Y|DYNC1I2_uc002uhe.1_Missense_Mutation_p.H426Y|DYNC1I2_uc002uhf.1_Missense_Mutation_p.H400Y|DYNC1I2_uc010zdt.1_Missense_Mutation_p.H418Y|DYNC1I2_uc002uhg.1_Missense_Mutation_p.H341Y|DYNC1I2_uc010zdu.1_Missense_Mutation_p.H149Y	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 2 (DYNC1I2), mRNA.	426					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			GGAGTTGGTTCATAAACAGTC	0.363000														16			6		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110489561	110489561	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110489561G>A	uc003yne.3	+	52	9129	c.9025G>A	c.(9025-9027)Gat>Aat	p.D3009N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3009					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TATTCTCCAGGATTGCTTTCC	0.408000										HNSCC(38;0.096)				52			19		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547321	43547321	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43547321G>A	uc002zag.1	+	17	3883	c.3883G>A	c.(3883-3885)Gac>Aac	p.D1295N	UMODL1_uc002zad.1_Missense_Mutation_p.D1095N|UMODL1_uc002zae.1_Missense_Mutation_p.D1223N|UMODL1_uc002zaf.1_Missense_Mutation_p.D1167N|UMODL1_uc002zal.1_Missense_Mutation_p.D117N|UMODL1_uc010gpa.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1167						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAACGCCCGGGACCCCATCAC	0.567000														65			16		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540967	28540967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28540967G>A	uc003nlo.3	-	3	3317	c.2699C>T	c.(2698-2700)tCa>tTa	p.S900L		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	900					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						aagttgcaatgaaaaatactt	0.333000														61			19		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24171030	24171030	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24171030G>A	uc003xdy.3	+	5	596	c.513G>A	c.(511-513)atG>atA	p.M171I	ADAM28_uc003xdx.3_Missense_Mutation_p.M171I|ADAM28_uc011kzz.2_Intron|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	171					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.G170W(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCTGTGGGATGGATGGTGTGT	0.433000														142			39		0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15131471	15131471	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15131471G>A	uc002nae.2	+	3	973	c.874_splice	c.e3+1	p.A292_splice		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	292					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CTATAACCCAGGTAGGAGTCC	0.602000														25			8		0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121488406	121488406	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:121488406C>T	uc003ksv.3	+	1	1097	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S	ZNF474_uc021ycy.1_Missense_Mutation_p.P241S	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	Homo sapiens zinc finger protein 474 (ZNF474), mRNA.	241						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		TATTCATGAGCCCAAATGCCT	0.527000														107			30		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127776	152127777	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152127776_152127777CC>TT	uc001ezs.1	-	2	1863_1864	c.1798_1799GG>AA	c.(1798-1800)ggg>AAg	p.G600K		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	600	Gln-rich.					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						TCCTTCAGTCCCTTGGAAGTAC	0.455000														260			100		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000301	16000301	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16000301C>T	uc002nbs.1	-	6	900	c.850G>A	c.(850-852)Gat>Aat	p.D284N	CYP4F2_uc010xot.1_Missense_Mutation_p.D135N|CYP4F2_uc010xou.1_Missense_Mutation_p.D135N	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	284					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGAAGTCATCAACACCCTGG	0.577000														127			35		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61574598	61574598	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61574598C>T	uc002jau.2	+	24	3826	c.3792C>T	c.(3790-3792)ttC>ttT	p.F1264F	ACE_uc010wpj.2_Silent_p.F649F|ACE_uc010ddv.2_Silent_p.F491F|ACE_uc002jav.2_Silent_p.F690F|ACE_uc002jaw.2_Intron|ACE_uc010wpk.2_Silent_p.F469F	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1264					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)	TGCTGCTCTTCCTGGGCATCG	0.716000														9			4		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6091073	6091073	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:6091073G>A	uc002wmr.3	-	4	1407	c.618C>T	c.(616-618)ttC>ttT	p.F206F	FERMT1_uc010gbt.3_Intron|FERMT1_uc002wms.3_Silent_p.F206F|FERMT1_uc002wmt.3_5'Flank	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	206	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GGCTGTCACTGAACCAAGTCA	0.522000														105			27		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937623	21937623	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:21937623C>T	uc010tzj.1	-	0		c.3117G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CATCGTCCTCCTCCTCTGTCA	0.498000														117			16		0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124253009	124253009	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124253009G>A	uc010sai.2	-	0	231	c.231C>T	c.(229-231)ttC>ttT	p.F77F	OR8B2_uc001qab.3_Non-coding_Transcript	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F77L(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		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;0.0277)		TTTTGGGAGTGAAAACAGAGG	0.388000														115			49		0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28118871	28118871	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:28118871G>A	uc002dpa.1	-	17	2970	c.2469C>T	c.(2467-2469)gcC>gcT	p.A823A	XPO6_uc002dpb.1_Silent_p.A809A|XPO6_uc010vcp.1_Silent_p.A823A	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	823					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTGGAAAGAGGGCCAGGGAGA	0.532000														71			26		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42231011	42231011	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:42231011G>A	uc003ose.2	-	7	2494	c.1931C>T	c.(1930-1932)cCc>cTc	p.P644L	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Intron	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	628	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.P644T(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGGCGTGCGGGGGGCAGCCCC	0.647000														56			35		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41045878	41045878	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41045878C>T	uc003jmj.4	-	17	2296	c.1806G>A	c.(1804-1806)atG>atA	p.M602I	HEATR7B2_uc003jmi.4_Missense_Mutation_p.M157I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	602							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						TGTAACTGCCCATTTGCTGTT	0.443000														167			56		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184792440	184792440	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:184792440C>T	uc001gra.3	-	7	1040	c.846G>A	c.(844-846)ctG>ctA	p.L282L	FAM129A_uc001grb.1_Silent_p.L45L|FAM129A_uc009wyh.1_Silent_p.L110L|FAM129A_uc009wyi.1_Silent_p.L80L	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	282					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GATGCTGAACCAGGGTGTAGG	0.507000														51			19		0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20736568	20736568	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:20736568C>T	uc002npa.3	-	1	257	c.77G>A	c.(76-78)cGg>cAg	p.R26Q		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	26					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						ATATAAATTCCGCTGTGCAGT	0.393000														225			19		0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35336622	35336622	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:35336622C>T	uc001mwd.3	-	2	850	c.258G>A	c.(256-258)atG>atA	p.M86I	SLC1A2_uc021qfx.1_Missense_Mutation_p.M77I|SLC1A2_uc001mwe.3_Missense_Mutation_p.M77I|SLC1A2_uc010rev.1_Missense_Mutation_p.M86I	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	86					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TTAGCATCCTCATGAGTATAT	0.493000														42			37		0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159086542	159086542	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:159086542C>T	uc003qrp.3	+	5	625	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	SYTL3_uc003qrr.3_Missense_Mutation_p.R76W|SYTL3_uc003qro.3_Missense_Mutation_p.R76W|SYTL3_uc003qrs.3_Missense_Mutation_p.R76W|SYTL3_uc011efq.2_5'UTR	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	76	RabBD.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CCTGCTGCACCGGGGCGCCGT	0.662000														2			8		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6833264	6833264	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6833264C>T	uc002mfu.1	+	15	1675	c.1578C>T	c.(1576-1578)acC>acT	p.T526T	VAV1_uc010xjh.1_Silent_p.T494T|VAV1_uc010dva.1_Silent_p.T526T|VAV1_uc002mfv.1_Silent_p.T471T	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	526					T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TTGAGGAGACCACATCCTGCA	0.498000														50			8		0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40720956	40720956	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40720956C>T	uc002ona.3	+	9	2910	c.2622C>T	c.(2620-2622)ttC>ttT	p.F874F		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	874					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCCCTGAGTTCCCAGGCCGCC	0.711000														30			9		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90504325	90504325	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:90504325G>A	uc003pnn.1	-	2	641	c.525C>T	c.(523-525)ctC>ctT	p.L175L	MDN1_uc003pnp.1_Silent_p.L175L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	175					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGCTTCTGAGGAGAGGGACAC	0.542000														41			17		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815292	43815292	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43815292G>A	uc001zrt.3	+	3	2088	c.1621G>A	c.(1621-1623)Gag>Aag	p.E541K		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	541	9 X 3 AA repeats of K-K-[DE].					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GATGAAGCGTGAGGAGAGGGC	0.552000														117			33		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881021	142881021	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142881021C>T	uc011ksw.2	+	0	510	c.510C>T	c.(508-510)ttC>ttT	p.F170F		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	170					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TTATTTCCTTCAGTCACAGCA	0.433000														59			18		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960273	73960273	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73960273T>A	uc004eby.3	-	2	4736	c.4119A>T	c.(4117-4119)acA>acT	p.T1373T		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1373					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						ACTCCTGTGGTGTCCCAGCCA	0.458000														29			43		0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502631	20502631	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20502631C>T	uc010tkz.2	-	0	287	c.287G>A	c.(286-288)gGa>gAa	p.G96E		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GGAATAACATCCCCACCATGA	0.463000														60			30		0	0	1	0	0
CCDC99	54908	broad.mit.edu	37	5	169021292	169021292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:169021292C>T	uc003mae.4	+	4	954	c.675C>T	c.(673-675)gcC>gcT	p.A225A	CCDC99_uc010jjj.3_Silent_p.A154A|CCDC99_uc011deq.2_Silent_p.A42A|CCDC99_uc010jjk.3_Intron	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.	225					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1)	25	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTATAATGCCCTAGAGGTAC	0.348000														40			13		0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58945977	58945977	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58945977G>A	uc002qst.4	-	2	1235	c.834C>T	c.(832-834)atC>atT	p.I278I		NM_003433	NP_003424	P52740	ZN132_HUMAN	Homo sapiens zinc finger protein 132 (ZNF132), mRNA.	278						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TATTACCAAGGATTGATTTCT	0.443000														74			28		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26096140	26096140	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:26096140G>A	uc002gzu.3	-	16	2161	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	NOS2_uc010wab.1_Missense_Mutation_p.R598W	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	633	Flavodoxin-like.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GCGCAGAACCGAGGGTACATG	0.607000														22			4		0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207538	58207538	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58207538G>A	uc010rkh.2	-	0	109	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V28F(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGATGAAAAGGAAGACTATGA	0.458000														89			25		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233296076	233296076	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233296076G>A	uc001hvl.2	-	18	3705	c.3470C>T	c.(3469-3471)tCa>tTa	p.S1157L	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.	1157						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)				AATGGGGTGTGAAATCCACAT	0.443000														47			23		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189863437	189863437	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189863437G>A	uc002uqj.1	+	28	2132	c.2015G>A	c.(2014-2016)gGa>gAa	p.G672E		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	672	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGAGCTCCAGGAGGCAAGGTA	0.383000														41			21		0	0	1	0	0
GNAT2	2780	broad.mit.edu	37	1	110148694	110148694	+	Silent	SNP	G	T	T	rs140231308		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110148694G>T	uc001dya.3	-	5	831	c.618C>A	c.(616-618)tcC>tcA	p.S206S		NM_005272	NP_005263	P19087	GNAT2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 (GNAT2), mRNA.	206					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TCTTTCTCTCGGATCTCTGCC	0.502000														63			30		1.61788e-16	1.62584e-16	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5239360	5239360	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:5239360C>T	uc003jdl.3	+	14	2389	c.2251C>T	c.(2251-2253)Ctc>Ttc	p.L751F	ADAMTS16_uc003jdk.1_Missense_Mutation_p.L751F|ADAMTS16_uc010itk.1_Non-coding_Transcript	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	751	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCACAGGGGTCTCTACACCAA	0.512000														152			39		0	0	1	0	0
HAUS4	54930	broad.mit.edu	37	14	23416931	23416931	+	Missense_Mutation	SNP	G	A	A	rs138593865	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23416931G>A	uc001whw.3	-	7	967	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	HAUS4_uc001who.3_Non-coding_Transcript|HAUS4_uc001wht.3_Missense_Mutation_p.R240C|HAUS4_uc001whu.3_Missense_Mutation_p.R195C|HAUS4_uc001whv.3_Missense_Mutation_p.R116C|HAUS4_uc001whq.3_Missense_Mutation_p.R114C	NM_001166269	NP_060285	Q9H6D7	HAUS4_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 4 (HAUS4), transcript variant 1, mRNA.	240					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						GTGAGGCAGCGGAGAAGCACC	0.507000														76			27		0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31521797	31521797	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31521797C>T	uc003aju.4	+	1	1164	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C	INPP5J_uc010gwf.3_Missense_Mutation_p.R358C|INPP5J_uc003ajw.3_Intron|INPP5J_uc003ajt.4_Intron|INPP5J_uc003ajv.4_Intron|INPP5J_uc003ajs.4_Intron|INPP5J_uc011alk.2_Missense_Mutation_p.R291C|INPP5J_uc010gwg.3_Intron	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	358	Pro-rich.					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CTCCCCGAATCGCTCTCCCTG	0.687000														10			4		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849489	73849489	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:73849489C>T	uc003xzb.3	+	2	2487	c.1899C>T	c.(1897-1899)ttC>ttT	p.F633F		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	633					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)			AGATGAAGTTCCCAACCGACC	0.607000														114			40		0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207196183	207196183	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207196183C>T	uc001hfd.2	-	3	1185	c.926G>A	c.(925-927)aGc>aAc	p.S309N	C1orf116_uc009xcb.1_Missense_Mutation_p.S63N|C1orf116_uc021pii.1_Missense_Mutation_p.S63N	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	309						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GCTTCGGCTGCTCTTCAGAAC	0.587000														50			28		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61941141	61941141	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61941141C>T	uc001jky.3	-	17	2468	c.2130G>A	c.(2128-2130)gtG>gtA	p.V710V	ANK3_uc010qih.2_Silent_p.V693V|ANK3_uc001jkz.4_Silent_p.V704V|ANK3_uc001jlb.1_Silent_p.V239V|ANK3_uc001jlc.1_Silent_p.V371V	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	710					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						CTGCCACATTCACTCGATCTT	0.517000														103			45		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54556509	54556509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54556509G>A	uc021smr.1	+	6	3586	c.3586G>A	c.(3586-3588)Gaa>Aaa	p.E1196K	UNC13C_uc021sms.1_Missense_Mutation_p.E1198K|UNC13C_uc002acl.3_Missense_Mutation_p.E28K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1198					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.I1195I(1)		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)		GATTTCTAAAGAAGATTTTGT	0.373000														10			6		0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76627229	76627229	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:76627229C>T	uc003kfa.3	+	4	698	c.653C>T	c.(652-654)tCg>tTg	p.S218L	PDE8B_uc003kfd.3_Missense_Mutation_p.S218L|PDE8B_uc003kfe.3_Missense_Mutation_p.S218L|PDE8B_uc003kfb.3_Missense_Mutation_p.S198L|PDE8B_uc003kfc.3_Missense_Mutation_p.S218L	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	218					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TGCTGCAGATCGGATGACCAT	0.502000														166			44		0	0	1	0	0
VASH1	22846	broad.mit.edu	37	14	77229182	77229182	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:77229182G>A	uc001xst.2	+	0	948	c.18G>A	c.(16-18)aaG>aaA	p.K6K	VASH1_uc001xss.3_Silent_p.K6K	NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	Homo sapiens vasohibin 1 (VASH1), mRNA.	6					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GGGGGAAGAAGGTGGCTGGGG	0.652000														4			6		0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44770423	44770423	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:44770423C>T	uc001rod.3	+	6	880	c.814C>T	c.(814-816)Cct>Tct	p.P272S	TMEM117_uc001roe.3_Missense_Mutation_p.P168S|TMEM117_uc009zkc.3_Intron	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	Homo sapiens transmembrane protein 117 (TMEM117), mRNA.	272						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TGTAAATCTCCCTGGTTTGCA	0.388000														146			41		0	0	1	0	0
ZNF18	7566	broad.mit.edu	37	17	11881712	11881712	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11881712G>A	uc002gng.1	-	8	1817	c.1212C>T	c.(1210-1212)gcC>gcT	p.A404A	ZNF18_uc002gnh.1_Silent_p.A404A|ZNF18_uc002gni.1_Silent_p.A403A	NM_144680	NP_653281	P17022	ZNF18_HUMAN	Homo sapiens zinc finger protein 18 (ZNF18), mRNA.	404					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GGAGCTTCTGGGCCATGGGGG	0.507000														64			6		0	0	1	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74700994	74700994	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:74700994G>A	uc001jtf.1	-	2	466	c.399C>T	c.(397-399)ttC>ttT	p.F133F	PLA2G12B_uc009xqt.1_Silent_p.F43F|PLA2G12B_uc010qjz.1_Silent_p.F133F	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	Homo sapiens phospholipase A2, group XIIB (PLA2G12B), mRNA.	133					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					GACACCATCGGAATTTTGCAT	0.502000														158			41		0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72862917	72862917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72862917G>A	uc010wrl.2	-	2	475	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S	FDXR_uc010wri.2_Missense_Mutation_p.P35S|FDXR_uc010wrj.2_Missense_Mutation_p.P85S|FDXR_uc002jlw.3_5'UTR|FDXR_uc002jlx.3_Missense_Mutation_p.P87S|FDXR_uc002jly.3_Missense_Mutation_p.P87S|FDXR_uc010wrk.2_Missense_Mutation_p.P118S|FDXR_uc010wrm.2_Missense_Mutation_p.P88S|FDXR_uc002jlz.3_Missense_Mutation_p.P87S|FDXR_uc002jmb.3_Non-coding_Transcript	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	87					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					TTCACCTCGGGGTGATCAGGC	0.632000														33			14		0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39325115	39325115	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:39325115C>T	uc003oot.2	-	18	2213	c.2118G>A	c.(2116-2118)acG>acA	p.T706T	KIF6_uc003oos.2_Silent_p.T157T|KIF6_uc010jwz.1_Silent_p.T81T|KIF6_uc010jxa.1_Silent_p.T497T|KIF6_uc011dua.1_Silent_p.T689T|KIF6_uc010jxb.1_Silent_p.T650T	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	706					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GAAATGGCTTCGTGTGATCGA	0.458000														91			38		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46835200	46835200	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:46835200G>A	uc003bhw.1	-	2	4292	c.4292C>T	c.(4291-4293)cCt>cTt	p.P1431L		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1431	EGF-like 3; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTCGCCAGGAGGACACACGCA	0.647000														68			7		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203681213	203681213	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203681213C>T	uc001gzw.3	+	12	3054	c.2157C>T	c.(2155-2157)ttC>ttT	p.F719F	ATP2B4_uc001gzv.3_Silent_p.F719F|ATP2B4_uc009xaq.3_Silent_p.F719F	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	719					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGATGACTTCCTGTGCTTAG	0.532000														91			27		0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45375207	45375207	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45375207C>T	uc002ozw.1	+	2	966	c.576C>T	c.(574-576)gcC>gcT	p.A192A	PVRL2_uc002ozv.3_Silent_p.A192A	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.	192	Ig-like C2-type 1.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GCCCACCTGCCCGGATCTCCT	0.622000														30			14		0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46474037	46474037	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:46474037C>T	uc001cov.3	+	8	1255	c.972C>T	c.(970-972)ttC>ttT	p.F324F	MAST2_uc001cow.3_Silent_p.F324F|MAST2_uc001coy.1_Silent_p.F32F|MAST2_uc001coz.1_Silent_p.F209F|MAST2_uc009vya.3_Silent_p.F246F|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	324					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)					AAGAAAGATTCCCAAAGGTAA	0.428000														41			11		0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11567934	11567934	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11567934C>T	uc002mry.1	-	5	1123	c.743G>A	c.(742-744)gGc>gAc	p.G248D	ELAVL3_uc002mrx.1_Missense_Mutation_p.G248D	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	248				G -> A (in Ref. 4; BAA21838).	cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCTCTTGACGCCGTAGGCCAT	0.647000														15			3		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45392370	45392370	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45392370C>T	uc001zun.3	-	23	3265	c.3062G>A	c.(3061-3063)cGa>cAa	p.R1021Q	DUOX2_uc010bea.3_Missense_Mutation_p.R1021Q	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1021	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TAGGAAGCCTCGCTGCATCTT	0.597000														46			9		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370099	240370099	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240370099G>A	uc010pye.2	+	6	2224	c.1999_splice	c.e6-1	p.E667_splice	FMN2_uc010pyd.2_Splice_Site_p.E663_splice	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	663					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.E806K(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGCCCTTCAGGAAGTTGTTGA	0.393000														38			9		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36751979	36751979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:36751979C>T	uc001cae.4	+	3	372	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C	THRAP3_uc001caf.4_Missense_Mutation_p.R50C|THRAP3_uc001cag.1_Missense_Mutation_p.R50C	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	50	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTCTAGGTCTCGTTCCAGATC	0.398000			T	USP6	aneurysmal bone cysts									93			50		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157485638	157485638	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157485638C>T	uc009wsm.3	-	15	2986	c.2828G>A	c.(2827-2829)gGa>gAa	p.G943E	FCRL5_uc001fqu.3_Silent_p.R946R	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	0						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TCACCTTGTTCCTGAGATGCC	0.602000														55			26		0	0	1	0	0
PEX13	5194	broad.mit.edu	37	2	61275754	61275754	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:61275754C>T	uc002sau.4	+	3	1144	c.1061C>T	c.(1060-1062)tCt>tTt	p.S354F		NM_002618	NP_002609	Q92968	PEX13_HUMAN	Homo sapiens peroxisomal biogenesis factor 13 (PEX13), mRNA.	354					cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			CAGCAACAATCTTTTACCAAC	0.383000														99			27		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73615104	73615104	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:73615104C>T	uc002avp.3	-	7	4324	c.3330G>A	c.(3328-3330)ggG>ggA	p.G1110G		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	1110					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCATGGACTCCCCTGAGGAGT	0.721000														4			4		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77607174	77607174	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:77607174G>A	uc011bgk.2	+	9	1966	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L	ROBO2_uc021xat.1_Silent_p.L453L|ROBO2_uc003dpy.4_Silent_p.L437L|ROBO2_uc003dpz.3_Silent_p.L441L|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	437	Ig-like C2-type 5.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAGCGTTACTGAAATGTAAAG	0.438000														77			39		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121262978	121262978	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:121262978G>A	uc003yox.3	+	21	2990	c.2725G>A	c.(2725-2727)Gac>Aac	p.D909N	COL14A1_uc003yoy.3_Missense_Mutation_p.D587N	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	909	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGGCTTCAGCGACGCCCTGAC	0.478000														47			10		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76491047	76491047	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76491047C>T	uc010dhp.2	-	38	6161	c.6036G>A	c.(6034-6036)tcG>tcA	p.S2012S	AK127460_uc002jvt.1_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACACCTGCTTCGAGAGCAGCT	0.597000														19			6		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170030438	170030438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170030438C>T	uc002ues.3	-	55	11218	c.11005G>A	c.(11005-11007)Gaa>Aaa	p.E3669K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3669	LDL-receptor class A 29.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTGCATTCTTCAATGGGCTCA	0.557000														87			37		0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67304727	67304727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67304727G>A	uc002esm.3	+	15	2368	c.2305G>A	c.(2305-2307)Ggg>Agg	p.G769R	SLC9A5_uc010cee.3_Missense_Mutation_p.G474R|SLC9A5_uc010vji.2_Missense_Mutation_p.G273R	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	769					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GAGTGGGCAGGGGGACCTGGC	0.597000														50			16		0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114057955	114057955	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:114057955G>A	uc003ebi.3	-	4	2303	c.2123C>T	c.(2122-2124)gCc>gTc	p.A708V	ZBTB20_uc003ebj.3_Missense_Mutation_p.A635V|ZBTB20_uc010hqp.3_Missense_Mutation_p.A635V|ZBTB20_uc003ebk.3_Missense_Mutation_p.A635V|ZBTB20_uc003ebl.3_Missense_Mutation_p.A635V|ZBTB20_uc003ebm.3_Missense_Mutation_p.A635V|ZBTB20_uc003ebn.3_Missense_Mutation_p.A635V	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTCCGTGCAGGCCACCACGCC	0.647000														55			28		0	0	1	0	0
CLDN4	1364	broad.mit.edu	37	7	73246037	73246037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:73246037C>T	uc003tzi.4	+	0	845	c.506C>T	c.(505-507)gCc>gTc	p.A169V	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	169					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GTCGGCTGGGCCGCCTCCGGC	0.642000														56			16		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93148220	93148220	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:93148220G>A	uc001pdq.3	+	12	1678	c.1578G>A	c.(1576-1578)tcG>tcA	p.S526S	CCDC67_uc001pdo.1_Silent_p.S526S	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	526										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TGCCACCTTCGACATTTCAAG	0.413000														84			23		0	0	1	0	0
GOLT1A	127845	broad.mit.edu	37	1	204172074	204172074	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204172074G>A	uc001has.1	-	1	253	c.67C>T	c.(67-69)Ctc>Ttc	p.L23F	GOLT1A_uc001hat.1_Missense_Mutation_p.L23F	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	Homo sapiens golgi transport 1A (GOLT1A), mRNA.	23					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			GTTCCAAAGAGGATGAAGAAG	0.567000														51			18		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20329750	20329750	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20329750G>A	uc002dgv.3	-	7	1102	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	GP2_uc002dgw.3_Missense_Mutation_p.S337F|GP2_uc002dgx.3_Missense_Mutation_p.S193F|GP2_uc002dgy.3_Missense_Mutation_p.S190F	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	340	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GACGTTCAGGGAACTGAGAAA	0.468000														95			37		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178557010	178557010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178557010C>T	uc003mjw.3	-	15	2482	c.2380G>A	c.(2380-2382)Gag>Aag	p.E794K		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	794	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TACTCCCACTCCACGCCCATG	0.582000														62			20		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36895318	36895318	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:36895318C>T	uc022abv.1	-	21	2732	c.2022G>A	c.(2020-2022)ggG>ggA	p.G674G	ELMO1_uc003tfi.2_Silent_p.G194G|ELMO1_uc003tfj.2_Silent_p.G194G|ELMO1_uc011kbb.2_Non-coding_Transcript|ELMO1_uc011kbc.2_Silent_p.G578G|ELMO1_uc003tfk.2_Silent_p.G674G|ELMO1_uc010kxg.2_Silent_p.G674G	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	674	PH.				Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.G674W(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCATGTCCTTCCCGAGTAGCG	0.517000														105			34		0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975793	152975793	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152975793C>T	uc021ozo.1	+	0	297	c.297C>T	c.(295-297)acC>acT	p.T99T	SPRR3_uc001fax.4_Silent_p.T99T|SPRR3_uc001faz.4_Silent_p.T99T|SPRR3_uc001fay.2_Silent_p.T91T	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	99	14 X 8 AA approximate tandem repeats.		Missing.		keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGTTGTACCAAGGTCCCTG	0.582000														55			7		0	0	1	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159605610	159605610	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:159605610G>A	uc003fcq.2	+	7	1519	c.1338G>A	c.(1336-1338)atG>atA	p.M446I	IQCJ-SCHIP1_uc003fcr.2_Missense_Mutation_p.M419I|IQCJ-SCHIP1_uc003fcs.2_Missense_Mutation_p.M370I|IQCJ-SCHIP1_uc003fct.2_Missense_Mutation_p.M357I|IQCJ-SCHIP1_uc021xgm.1_Missense_Mutation_p.M138I|IQCJ-SCHIP1_uc010hvz.1_Missense_Mutation_p.M330I|IQCJ-SCHIP1_uc003fcu.2_Missense_Mutation_p.M127I	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	370						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AAGCCAAAATGGCCCTTGCCA	0.453000														101			35		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130287	45130287	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:45130287C>T	uc002xsa.3	-	3	2222	c.1760G>A	c.(1759-1761)aGa>aAa	p.R587K	ZNF334_uc002xsb.3_Missense_Mutation_p.R526K|ZNF334_uc002xsd.3_Missense_Mutation_p.R526K|ZNF334_uc002xsc.3_Missense_Mutation_p.R564K|ZNF334_uc010ghl.3_Missense_Mutation_p.R563K			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTGTGTGTTCTCTGATGGTG	0.463000														156			59		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726872	63726872	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:63726872G>A	uc003tsx.3	+	4	1130	c.861G>A	c.(859-861)aaG>aaA	p.K287K		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CTAACCACAAGAGAATTCATA	0.428000														52			24		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15415903	15415903	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:15415903G>A	uc002rcc.1	-	43	5455	c.5429C>T	c.(5428-5430)cCt>cTt	p.P1810L	NBAS_uc010exl.1_Missense_Mutation_p.P882L|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1810										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGCTTCAAGAGGACTCATGTT	0.368000														77			19		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215807692	215807692	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:215807692C>T	uc002vew.3	-	49	7613	c.7393G>A	c.(7393-7395)Gga>Aga	p.G2465R	ABCA12_uc002vev.3_Missense_Mutation_p.G2147R|ABCA12_uc010zjn.2_Missense_Mutation_p.G1392R	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2465	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGAAACTTTCCATTCACCATA	0.398000														50			24		0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45878105	45878105	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:45878105G>A	uc001jce.3	+	1	424	c.325G>A	c.(325-327)Gag>Aag	p.E109K	ALOX5_uc009xmt.3_Missense_Mutation_p.E109K|ALOX5_uc010qfg.2_Missense_Mutation_p.E109K|ALOX5_uc021ppr.1_Missense_Mutation_p.E109K	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	109	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CGGCGATGTCGAGGTTGTCCT	0.592000														11			3		0	0	1	0	0
TEX13B	56156	broad.mit.edu	37	X	107224759	107224759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:107224759C>T	uc004enn.1	-	2	583	c.490G>A	c.(490-492)Gct>Act	p.A164T		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	Homo sapiens testis expressed 13B (TEX13B), mRNA.	164										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						AACACTGTAGCCTGGCCCTGT	0.642000														48			58		0	0	1	0	0
HS3ST6	64711	broad.mit.edu	37	16	1962130	1962130	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1962130G>A	uc002cnf.3	-	1	397	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	133										endometrium(2)|lung(2)	4						ATGCGGCGGGGGGCCTCTCGC	0.662000														9			9		0	0	1	0	0
LSAMP	4045	broad.mit.edu	37	3	115805287	115805287	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:115805287G>A	uc011bis.2	-	1	779	c.272C>T	c.(271-273)tCt>tTt	p.S91F	LSAMP_uc003ebs.3_Missense_Mutation_p.S91F	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA.	91	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GTATTCCAGAGAATGGCGTTT	0.507000														72			17		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7984041	7984041	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7984041G>A	uc002gjy.1	-	4	846	c.585C>T	c.(583-585)ttC>ttT	p.F195F	BC046191_uc010cnq.2_Non-coding_Transcript	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	195	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TTAAGTTCAGGAACTTGGTGG	0.577000										Multiple Myeloma(8;0.094)	OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			24		0	0	1	0	0
AKR1E2	83592	broad.mit.edu	37	10	4883992	4883992	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:4883992G>A	uc001ihi.3	+	6	811	c.696G>A	c.(694-696)ctG>ctA	p.L232L	AKR1E2_uc010qam.1_Intron|AKR1E2_uc001ihh.1_Intron|AKR1E2_uc001ihj.3_Non-coding_Transcript|AKR1E2_uc001ihk.3_Intron|AKR1E2_uc009xhw.3_Intron	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	Homo sapiens aldo-keto reductase family 1, member E2 (AKR1E2), mRNA.	232						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						GGGTTGACCTGATAGACAACC	0.517000														23			9		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15809077	15809077	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:15809077C>T	uc002ddx.3	-	39	5685	c.5578G>A	c.(5578-5580)Gaa>Aaa	p.E1860K	MYH11_uc002ddv.3_Missense_Mutation_p.E1860K|MYH11_uc002ddw.3_Missense_Mutation_p.E1853K|MYH11_uc002ddy.3_Missense_Mutation_p.E1853K|MYH11_uc010bvg.3_Missense_Mutation_p.E1685K|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.E559K	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1853					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGCAAGATTTCCTTCAGCTTC	0.607000			T	CBFB	AML									69			31		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106791008	106791008	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106791008C>T	uc021ser.1	-	619		c.17384G>A								Parts of antibodies, mostly variable regions.																		CTGTGTCTCTCGCACAGTAAT	0.562000														551			73		0	0	1	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292792	4292793	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4292792_4292793CC>TT	uc002lzx.2	-	4	698_699	c.652_653GG>AA	c.(652-654)ggc>AAc	p.G218N	TMIGD2_uc021umz.1_Missense_Mutation_p.A102T|TMIGD2_uc021una.1_Missense_Mutation_p.A50T|TMIGD2_uc010dtv.2_Missense_Mutation_p.G214N	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	218						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AATGCTCTGGCCCCTCTGGTCC	0.644000														88			23		0	0	1	0	0
AV2S1A1	0	broad.mit.edu	37	14	22356412	22356412	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22356412G>A	uc021rph.1	+	1	175	c.73G>A	c.(73-75)Gag>Aag	p.E25K	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Missense_Mutation_p.E25K|AV2S1A1_uc021rpi.1_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 117-2.																		CCAACAGAAGGAGGTGGAGCA	0.498000														58			18		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49690103	49690103	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49690103G>A	uc003cxe.4	+	4	3228	c.3114G>A	c.(3112-3114)gaG>gaA	p.E1038E		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1038					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCACCATCGAGGACTCCTCAG	0.662000														26			17		0	0	1	0	0
DDX54	79039	broad.mit.edu	37	12	113612944	113612944	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113612944G>A	uc001tuq.4	-	7	799	c.771C>T	c.(769-771)ttC>ttT	p.F257F	DDX54_uc001tup.3_Silent_p.F257F	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	257	Helicase ATP-binding.				RNA processing|estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|estrogen receptor binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTGCTCTGCGAAACCCATTT	0.627000											OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			10		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186445088	186445088	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:186445088G>A	uc011bsa.2	+	4	861	c.627G>A	c.(625-627)gaG>gaA	p.E209E	KNG1_uc003fqr.3_Silent_p.E209E|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	209	Cystatin 2.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GTTCCAAAGAGAATTTTCTGT	0.343000														107			10		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128365332	128365332	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:128365332G>A	uc003kuy.3	+	9	2011	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K	SLC27A6_uc003kuz.3_Missense_Mutation_p.E539K	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	539					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTTAGATTTGGAAAAAGTTTA	0.303000														43			22		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62144067	62144067	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62144067G>A	uc002jdz.2	-	7	919	c.806C>T	c.(805-807)cCg>cTg	p.P269L		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	269					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CTTGGGGAACGGGTACTTCCA	0.592000														29			16		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8331622	8331622	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:8331622C>T	uc003zkk.3	-	43	6237	c.5494G>A	c.(5494-5496)Gaa>Aaa	p.E1832K	PTPRD_uc003zkp.3_Missense_Mutation_p.E1426K|PTPRD_uc003zkq.3_Missense_Mutation_p.E1425K|PTPRD_uc003zkr.3_Missense_Mutation_p.E1416K|PTPRD_uc003zks.3_Missense_Mutation_p.E1425K|PTPRD_uc022bdj.1_Missense_Mutation_p.E1422K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1832	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAAACTGTTCTTTTGTTTTA	0.433000										TSP Lung(15;0.13)				63			33		0	0	1	0	0
C7orf26	79034	broad.mit.edu	37	7	6641744	6641744	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:6641744C>T	uc003sqo.1	+	4	1121	c.1121C>T	c.(1120-1122)aCc>aTc	p.T374I	C7orf26_uc003sqp.1_Missense_Mutation_p.T277I	NM_024067	NP_076972	Q96N11	CG026_HUMAN	Homo sapiens chromosome 7 open reading frame 26 (C7orf26), mRNA.	374										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GACCTGAGAACCTTGTGCTCC	0.502000											OREG0017863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			33		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509866	228509866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228509866C>T	uc009xez.1	+	54	15368	c.15324C>T	c.(15322-15324)gcC>gcT	p.A5108A	OBSCN_uc001hsn.3_Silent_p.A5108A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5108					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGACTCCTGCCCCTGTGGTGC	0.602000														19			10		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103180703	103180703	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:103180703G>A	uc022ajr.1	-	43	7031	c.6871C>T	c.(6871-6873)Ctt>Ttt	p.L2291F	RELN_uc022ajq.1_Missense_Mutation_p.L2291F|RELN_uc010liz.3_Missense_Mutation_p.L2291F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2291					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	p.L2291F(2)		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)		CACCAGCGAAGGCGAGTAGAA	0.498000														94			34		0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45475275	45475276	+	Silent	DNP	CC	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:45475275_45475276CC>TA	uc001wvw.3	+	4	2918_2919	c.2709_2710CC>TA	c.(2707-2712)tcccga>tcTAga	p.903_904SR>SR	FAM179B_uc001wvv.3_Silent_p.903_904SR>SR|FAM179B_uc010anc.3_Non-coding_Transcript|FAM179B_uc001wvu.3_Silent_p.903_904SR>SR	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	903							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CGCCATCTTCCCGACGAGGTCT	0.416000														146			42		0	0	1	0	0
ZNF823	55552	broad.mit.edu	37	19	11833307	11833307	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11833307G>A	uc002msm.2	-	3	1168	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	ZNF823_uc010xmd.1_Nonsense_Mutation_p.R166*|ZNF823_uc010dyi.1_Nonsense_Mutation_p.R304*	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	Homo sapiens zinc finger protein 823 (ZNF823), mRNA.	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R348*(3)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TCATGATTTCGAACTGAACTA	0.418000										HNSCC(68;0.2)				155			20		0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56030715	56030715	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56030715C>T	uc010spq.2	+	0	40	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TGAATTCCTCCTTCTGGGATT	0.522000														88			42		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784984	9784985	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:9784984_9784985CC>TT	uc003gmb.4	+	0	1727_1728	c.1331_1332CC>TT	c.(1330-1332)tcc>tTT	p.S444F		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	444					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TATCAGACGTCCCCAGATGGTG	0.545000														55			30		0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188202397	188202397	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:188202397C>T	uc003frs.2	+	3	457	c.211C>T	c.(211-213)Cca>Tca	p.P71S	LPP_uc011bsg.2_Missense_Mutation_p.P71S|LPP_uc011bsi.2_Missense_Mutation_p.P71S|LPP_uc003frt.3_Missense_Mutation_p.P71S	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	71	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TCTTCCACCCCCACCTCCACC	0.413000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""									157			51		0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242812010	242812010	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242812010G>A	uc010fzu.1	+	0	125	c.102G>A	c.(100-102)ctG>ctA	p.L34L		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	34						integral to membrane											AGCACAGCCTGGTCCCGGGAT	0.682000														9			7		0	0	1	0	0
SUOX	6821	broad.mit.edu	37	12	56396389	56396389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56396389C>T	uc001six.3	+	4	439	c.113C>T	c.(112-114)cCc>cTc	p.P38L	SUOX_uc009zoh.3_Missense_Mutation_p.P38L|SUOX_uc001siy.3_Missense_Mutation_p.P38L|SUOX_uc001siz.3_Missense_Mutation_p.P38L|SUOX_uc001sja.3_Missense_Mutation_p.P38L	NM_000456	NP_001027559	P51687	SUOX_HUMAN	Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	38						mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			TCATTTCAGCCCCAGCGCCCC	0.537000														128			51		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	95019472	95019472	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:95019472G>A	uc003unt.3	-	2	220	c.195C>T	c.(193-195)atC>atT	p.I65I	PON1_uc011kih.2_Intron|PON1_uc011kii.2_Silent_p.I65I	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	65					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TCACACTGGAGATAAAAGCCA	0.403000														287			99		0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91198420	91198420	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:91198420G>A	uc001kgm.3	-	5	1270	c.969C>T	c.(967-969)tcC>tcT	p.S323S	SLC16A12_uc001kgl.3_5'Flank	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	293						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						CTCCAAGTATGGACATAAGAA	0.443000														98			22		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120474738	120474738	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:120474738G>A	uc004bjz.3	+	2	623	c.332G>A	c.(331-333)gGa>gAa	p.G111E	TLR4_uc004bkb.3_5'UTR|TLR4_uc004bka.3_Missense_Mutation_p.G71E	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	111					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.G111*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATATTGACAGGAAACCCCATC	0.433000														48			18		0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223226	35223226	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:35223226G>A	uc001bxu.3	+	1	395	c.295G>A	c.(295-297)Gag>Aag	p.E99K	GJB5_uc021okz.1_Missense_Mutation_p.E99K|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	99					cell communication|epidermis development	connexon complex|integral to membrane		p.R98W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				GGCCTACCGGGAGGTTCAGGA	0.612000														77			26		0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214556972	214556972	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:214556972G>A	uc001hkk.2	-	12	2879	c.2226C>T	c.(2224-2226)gcC>gcT	p.A742A	PTPN14_uc021piy.1_Silent_p.A506A|PTPN14_uc010pty.2_Silent_p.A643A	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	742					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGGGGATGCGGGCCAGGGCCG	0.652000														47			21		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936693	4936693	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4936693G>A	uc001lzr.1	-	0	201	c.201C>T	c.(199-201)ttC>ttT	p.F67F		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATGGACAGGAAGAGATACA	0.478000														40			18		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168114084	168114084	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:168114084C>T	uc010jjg.3	-	29	3655	c.3235G>A	c.(3235-3237)Gag>Aag	p.E1079K	SLIT3_uc003mab.3_Missense_Mutation_p.E1072K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1072	EGF-like 5.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGTCTGTCTCACAGAGCTTC	0.597000														33			20		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34888123	34888123	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:34888123C>T	uc003teh.1	+	7	1001	c.873C>T	c.(871-873)ttC>ttT	p.F291F	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.F291F|NPSR1_uc010kwt.1_Silent_p.F138F|NPSR1_uc010kwu.1_Silent_p.F81F|NPSR1_uc010kwv.1_Silent_p.F225F|NPSR1_uc003tei.1_Silent_p.F291F|NPSR1_uc010kww.1_Silent_p.F280F|NPSR1_uc011kar.1_Silent_p.F225F	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	291						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GTCCATACTTCCTGTTTGACA	0.493000														272			103		0	0	1	0	0
NR2F1	7025	broad.mit.edu	37	5	92923983	92923983	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:92923983C>T	uc003kkj.3	+	1	2511	c.824C>T	c.(823-825)cCg>cTg	p.P275L	NR2F1_uc021ybj.1_Missense_Mutation_p.P224L|NR2F1_uc021ybk.1_Missense_Mutation_p.P250L	NM_005654	NP_005645	P10589	COT1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA.	275					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CACGTGGCGCCGTTGCTGGCC	0.662000														59			23		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665909	19665909	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:19665909G>A	uc002wrl.3	+	11	1425	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	410						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTGGCAACGAAACAgagaa	0.537000														44			20		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54722248	54722248	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54722248C>T	uc010erh.1	-	11	1750	c.1626G>A	c.(1624-1626)agG>agA	p.R542R	LILRB3_uc002qee.1_Silent_p.R525R|LILRB3_uc002qef.1_Silent_p.R525R|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Silent_p.R525R|LILRB3_uc002qeh.1_Silent_p.R525R|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Silent_p.R525R|LILRB3_uc002qek.1_Silent_p.R525R|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Silent_p.R525R|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Silent_p.R525R|LILRB3_uc002qep.1_Silent_p.R525R|LILRB3_uc002qeq.1_Silent_p.R525R	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	525					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAGCTCCACCCTGTCCTCAG	0.617000														76			18		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6759682	6759682	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:6759682G>A	uc002wmu.1	+	2	1922	c.1137G>A	c.(1135-1137)aaG>aaA	p.K379K		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	379					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	AGAATGAAAAGGTTGTATTAA	0.373000														44			19		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3907853	3907853	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3907853G>A	uc010xhz.2	+	5	981	c.498G>A	c.(496-498)ggG>ggA	p.G166G	ATCAY_uc002lyy.4_Silent_p.G160G|ATCAY_uc010dts.3_5'Flank			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	160					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)		TGATCATCGGGGAGCAAGAGC	0.657000														41			23		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42327846	42327846	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:42327846C>T	uc002igf.4	-	19	2865	c.2716G>A	c.(2716-2718)Gaa>Aaa	p.E906K	SLC4A1_uc021tyc.1_Missense_Mutation_p.E540K	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	906	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ATGGCCACTTCGTCGTATTCA	0.597000														21			17		0	0	1	0	0
CXCR7	57007	broad.mit.edu	37	2	237489273	237489273	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:237489273C>T	uc021vys.1	+	0	165	c.165C>T	c.(163-165)ttC>ttT	p.F55F	CXCR7_uc010fyq.3_Silent_p.F55F|CXCR7_uc002vwd.3_Silent_p.F55F	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	55					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		TTTTCATCTTCGTCATCGGCA	0.522000														22			4		0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68873164	68873164	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:68873164G>A	uc010yqj.2	+	0	371	c.211G>A	c.(211-213)Ggc>Agc	p.G71S	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	71						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GGCCCTGGTGGGCATCATGCT	0.517000														187			19		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526305	176526305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176526305C>T	uc001gkz.3	+	1	2011	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S	PAPPA2_uc001gky.1_Missense_Mutation_p.P283S|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	283					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCTGAGATTCCCCGGGAGGC	0.567000														26			11		0	0	1	0	0
SLC35C2	51006	broad.mit.edu	37	20	44986361	44986361	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44986361G>A	uc010zxp.2	-	3	352	c.259C>T	c.(259-261)Ctc>Ttc	p.L87F	SLC35C2_uc002xro.3_Missense_Mutation_p.L58F|SLC35C2_uc002xrp.3_Missense_Mutation_p.L58F|SLC35C2_uc002xrq.3_Missense_Mutation_p.L58F|SLC35C2_uc002xrr.3_Missense_Mutation_p.L58F|SLC35C2_uc010zxn.2_Intron|SLC35C2_uc010zxo.2_Intron	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	58					transport	integral to membrane		p.R86I(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				GCGGAGAAGAGGAAGATCACG	0.617000														58			18		0	0	1	0	0
KLRG1	10219	broad.mit.edu	37	12	9144893	9144893	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:9144893G>A	uc001qvh.3	+	1	185	c.174G>A	c.(172-174)tgG>tgA	p.W58*	KLRG1_uc001qvg.3_Nonsense_Mutation_p.W58*	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 1 (KLRG1), mRNA.	58			W -> R (in dbSNP:rs1805749).		cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						TATACCAGTGGATCCTGTGCC	0.388000														170			78		0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72407608	72407608	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:72407608G>A	uc001osu.3	-	22	3447	c.3258C>T	c.(3256-3258)atC>atT	p.I1086I	ARAP1_uc001osv.3_Silent_p.I1086I|ARAP1_uc001osr.3_Silent_p.I846I|ARAP1_uc001oss.3_Silent_p.I841I|ARAP1_uc009yth.3_Silent_p.I780I|ARAP1_uc010rre.2_Silent_p.I841I	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	1086	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						ACAGGTGGCTGATAAGGGCCT	0.602000														46			14		0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65124002	65124002	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65124002C>T	uc021qlj.1	+	0	723	c.723C>T	c.(721-723)atC>atT	p.I241I	TIGD3_uc001odo.4_Silent_p.I241I	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	241	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						ACCTGGGCATCCCCTGGTTAG	0.657000														133			35		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71016297	71016297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:71016297C>T	uc001swc.4	-	2	626	c.581G>A	c.(580-582)aGa>aAa	p.R194K	PTPRB_uc001swa.4_Missense_Mutation_p.R194K|PTPRB_uc001swd.4_Missense_Mutation_p.R193K|PTPRB_uc009zrr.2_Missense_Mutation_p.R73K|PTPRB_uc001swe.3_Missense_Mutation_p.R194K	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGCAGCATTTCTGATGAAGGC	0.468000														24			7		0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132061443	132061443	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:132061443C>T	uc010htp.2	+	5	693	c.603C>T	c.(601-603)gaC>gaT	p.D201D	ACPP_uc003eon.3_Silent_p.D168D|ACPP_uc003eop.4_Silent_p.D201D	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	201						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ATGGCCAGGACCTTTTTGGAA	0.353000														112			16		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196659194	196659194	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196659194G>A	uc002utj.4	-	56	10685	c.10584C>T	c.(10582-10584)ttC>ttT	p.F3528F	DNAH7_uc002uti.4_Silent_p.F11F	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3528	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGACACAGGGAAATTTGGAG	0.418000														98			41		0	0	1	0	0
STIM1	6786	broad.mit.edu	37	11	4107730	4107730	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4107730C>T	uc021qco.1	+	10	2066	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	STIM1_uc001lyv.2_Missense_Mutation_p.R500W|STIM1_uc009yef.2_Missense_Mutation_p.R500W|STIM1_uc009yeg.2_Missense_Mutation_p.R327W	NM_003156	NP_003147	Q13586	STIM1_HUMAN	Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.	500					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GAGCAGTGTTCGGCAGCGCCT	0.592000														42			11		0	0	1	0	0
GIN1	54826	broad.mit.edu	37	5	102440250	102440250	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:102440250G>A	uc003koa.1	-	3	716	c.634C>T	c.(634-636)Caa>Taa	p.Q212*	GIN1_uc003kob.1_Nonsense_Mutation_p.Q65*|GIN1_uc003koc.1_Nonsense_Mutation_p.Q212*	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	Homo sapiens gypsy retrotransposon integrase 1 (GIN1), mRNA.	212	Integrase catalytic.				DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CTTACCTGTTGAATGAATTCA	0.343000														21			8		0	0	1	0	0
REXO1L1	254958	broad.mit.edu	37	8	86573806	86573806	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:86573806C>T	uc022axf.1	-	0	1921	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	641						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						CTTGCGTCCTCGCTGGAGTTG	0.672000														48			7		0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51446170	51446170	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:51446170G>A	uc001wyx.4	-	8	2770	c.2005C>T	c.(2005-2007)Ccc>Tcc	p.P669S	TRIM9_uc001wyy.2_Missense_Mutation_p.P750S	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	669	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					AATGCTATGGGACCTTGTTGT	0.488000														166			78		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141243024	141243024	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141243024C>T	uc002tvj.1	-	58	10285	c.9313G>A	c.(9313-9315)Gac>Aac	p.D3105N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3105					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTCTGTGTCAGACCAATAG	0.393000										TSP Lung(27;0.18)				56			29		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50213657	50213657	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50213657C>T	uc010eng.3	+	14	1963	c.1647C>T	c.(1645-1647)tcC>tcT	p.S549S	CPT1C_uc002ppl.4_Silent_p.S515S|CPT1C_uc002ppi.3_Silent_p.S466S|CPT1C_uc002ppk.3_Silent_p.S538S|CPT1C_uc010enh.3_Silent_p.S549S|CPT1C_uc002ppj.3_Silent_p.S549S|CPT1C_uc010ybc.1_Silent_p.S420S|CPT1C_uc010eni.1_Silent_p.S206S	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	549					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTCCATTCTCCCTATTTGGCA	0.557000														87			17		0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38884476	38884476	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:38884476C>T	uc002ywk.3	+	10	2010	c.1934C>T	c.(1933-1935)tCt>tTt	p.S645F	DYRK1A_uc002ywi.3_3'UTR|DYRK1A_uc002ywj.3_Missense_Mutation_p.S636F|DYRK1A_uc002ywm.3_3'UTR|DYRK1A_uc011aei.2_Missense_Mutation_p.S406F	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	645					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCCAAGATTCTATGGAGGTT	0.522000														63			27		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45284519	45284519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45284519G>A	uc002ozs.3	+	2	619	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	CBLC_uc010ejt.3_Missense_Mutation_p.E186K	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	186	Cbl-PTB.|EF-hand-like.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CCACCCTGTGGAACCAGGCTG	0.642000			M		AML									67			26		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177250629	177250629	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:177250629C>T	uc001glf.3	+	7	2629	c.2317C>T	c.(2317-2319)Cct>Tct	p.P773S	FAM5B_uc001glg.3_Missense_Mutation_p.P668S	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	773						extracellular region		p.P773A(2)		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						GCTGCCAAACCCTGTGGAATA	0.532000														87			26		0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31487875	31487875	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31487875G>A	uc002ecd.2	+	8	996	c.962G>A	c.(961-963)gGa>gAa	p.G321E	TGFB1I1_uc021tgx.1_Missense_Mutation_p.G304E|TGFB1I1_uc002ece.2_Missense_Mutation_p.G304E	NM_001042454	NP_057011	O43294	TGFI1_HUMAN	Homo sapiens transforming growth factor beta 1 induced transcript 1 (TGFB1I1), transcript variant 1, mRNA.	321	LIM zinc-binding 2.				Wnt receptor signaling pathway|androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	I-SMAD binding|Roundabout binding|androgen receptor binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GAGCCCTTCGGAGATGAGGGT	0.637000														11			5		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224759	3224759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:3224759C>T	uc022aqr.1	-	19	3300	c.2910G>A	c.(2908-2910)atG>atA	p.M970I	CSMD1_uc011kwj.2_Missense_Mutation_p.M363I|CSMD1_uc003wqe.3_Missense_Mutation_p.M127I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	971	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTGAAAGATCATTTGAACTC	0.557000														15			3		0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113285641	113285641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113285641G>A	uc010syl.2	+	4	586	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	RPH3A_uc001ttz.3_Missense_Mutation_p.R75Q|RPH3A_uc001tty.3_Missense_Mutation_p.R71Q|RPH3A_uc009zwe.1_Missense_Mutation_p.R71Q|RPH3A_uc010sym.2_Intron	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	75	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.R71Q(1)|p.R74H(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GAGCAGGAGCGAATCGGGTGA	0.562000														23			10		0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18123478	18123478	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:18123478C>T	uc021wbb.1	+	0	611	c.174C>T	c.(172-174)tcC>tcT	p.S58S	PET117_uc021wba.1_3'UTR|CSRP2BP_uc002wqk.3_5'Flank	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	58					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GTGGGGATTCCCTCAACAGTG	0.527000														65			24		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111962889	111962889	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:111962889G>A	uc003dyu.3	-	10	1454	c.1232C>T	c.(1231-1233)aCc>aTc	p.T411I	SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Missense_Mutation_p.T363I	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	411					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GACAACAAGGGTTATTAGGCA	0.308000														65			18		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68192613	68192613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:68192613G>A	uc001ont.3	+	14	3355	c.3280G>A	c.(3280-3282)Gaa>Aaa	p.E1094K	LRP5_uc009ysg.3_Missense_Mutation_p.E504K	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1094	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	p.E1094G(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCCAAGATCGAACGCGCAGC	0.657000														65			13		0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44050043	44050043	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:44050043C>T	uc002rtn.3	-	9	1496	c.1356G>A	c.(1354-1356)gaG>gaA	p.E452E	ABCG5_uc002rtm.3_Silent_p.E57E|ABCG5_uc002rto.3_Silent_p.E281E|ABCG5_uc002rtp.3_Silent_p.E57E	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	452	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGTCCTGACTCTCCTGGTCGC	0.572000														24			11		0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28269783	28269783	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28269783G>A	uc003nky.3	+	6	2572	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	PGBD1_uc003nkz.3_Missense_Mutation_p.E718K	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	718					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGCTGATAACGAAGAAATCCC	0.403000														118			21		0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62954404	62954404	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:62954404C>T	uc001sre.3	+	25	3934	c.3543C>T	c.(3541-3543)gaC>gaT	p.D1181D	MON2_uc010ssn.2_Silent_p.D1181D|MON2_uc009zqj.3_Silent_p.D1181D|MON2_uc010ssl.2_Silent_p.D1109D|MON2_uc010ssm.2_Silent_p.D1158D|MON2_uc001srf.3_Silent_p.D944D|MON2_uc001srg.3_Silent_p.D56D	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1182					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CTGTCAGAGACTCAGATAAGC	0.448000														57			33		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38959949	38959949	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38959949C>T	uc002oit.3	+	26	3691	c.3561C>T	c.(3559-3561)ttC>ttT	p.F1187F	RYR1_uc002oiu.3_Silent_p.F1187F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1187	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	cACCAGGCTTCCTGCCCGTCT	0.647000														62			28		0	0	1	0	0
PIP	5304	broad.mit.edu	37	7	142836648	142836648	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142836648G>A	uc003wcf.1	+	3	390	c.354G>A	c.(352-354)cgG>cgA	p.R118R		NM_002652	NP_002643	P12273	PIP_HUMAN	Homo sapiens prolactin-induced protein (PIP), mRNA.	118						extracellular region	actin binding	p.R118R(2)|p.R118L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		ATGTTATTCGGGAATTAGGCA	0.453000														141			66		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31590878	31590878	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:31590878C>T	uc002rnv.1	-	19	2225	c.2146G>A	c.(2146-2148)Gag>Aag	p.E716K		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	716					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.E716*(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCCCCTTTCTCGATCTTCAGC	0.468000														71			109		0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67221470	67221470	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67221470C>T	uc002erx.1	-	4	939	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_Intron|EXOC3L1_uc010vje.1_Missense_Mutation_p.R172Q|EXOC3L1_uc002ery.1_Missense_Mutation_p.R177Q	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA.	233	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGGGGTTGTTCGTCCAGTCTC	0.687000														53			10		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511128	169511128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169511128G>A	uc001ggg.1	-	12	3345	c.3200C>T	c.(3199-3201)tCg>tTg	p.S1067L		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1067	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AAGCACCAACGAATGCTTAAG	0.438000														298			63		0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707226	96707226	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:96707226C>T	uc010avm.1	+	2	757	c.561C>T	c.(559-561)ctC>ctT	p.L187L	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.L160L|BDKRB2_uc001yfg.2_Silent_p.L187L	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	187					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GTACGCTGCTCCTGAGCTCAC	0.612000														72			21		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415993	86415993	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:86415993C>T	uc003uid.3	+	2	1984	c.885C>T	c.(883-885)ttC>ttT	p.F295F	GRM3_uc010lef.3_Silent_p.F293F|GRM3_uc010leg.3_Silent_p.F167F|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	295					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)	ATGCCTCCTTCACCTGGGTGG	0.677000														55			29		0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153476190	153476190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:153476190G>A	uc002tye.3	+	14	2162	c.1795G>A	c.(1795-1797)Gga>Aga	p.G599R	FMNL2_uc010fob.3_Missense_Mutation_p.G48R|FMNL2_uc002tyf.3_Missense_Mutation_p.G48R	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	599	Pro-rich.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TCCGCTGCCTGGAACATCTTC	0.562000														22			10		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651838	84651838	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:84651838G>T	uc002bjz.4	+	20	3682	c.3458G>T	c.(3457-3459)gGg>gTg	p.G1153V	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G1153V	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1153						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGCTCAGAGGGGAAACAGGG	0.547000														48			14		4.93089e-13	4.95289e-13	1	1	0
GPC5	2262	broad.mit.edu	37	13	92345675	92345675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:92345675C>T	uc010tif.2	+	2	926	c.560C>T	c.(559-561)tCc>tTc	p.S187F		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	187						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ACTGACAGTTCCCTGGAATAC	0.473000														114			85		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371732	240371732	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240371732C>T	uc010pye.2	+	5	3857	c.3632C>T	c.(3631-3633)cCc>cTc	p.P1211L	FMN2_uc010pyd.2_Missense_Mutation_p.P1207L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1207	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCTGGGATTCCCCCACCTCCT	0.657000														26			18		0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55406589	55406589	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55406589A>T	uc003pcn.3	-	3	484	c.325T>A	c.(325-327)Tcc>Acc	p.S109T	HMGCLL1_uc011dxe.2_Missense_Mutation_p.S79T|HMGCLL1_uc003pco.3_Missense_Mutation_p.S79T|HMGCLL1_uc010jzx.3_5'UTR|HMGCLL1_uc011dxc.2_Missense_Mutation_p.S79T|HMGCLL1_uc011dxd.2_Missense_Mutation_p.S79T|HMGCLL1_uc003pcp.3_Missense_Mutation_p.S79T	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	109							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.S109F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCAGTTTGGGAAAGTCGATTG	0.313000														82			42		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542280	55542280	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55542280C>T	uc003xsd.1	+	3	5986	c.5838C>T	c.(5836-5838)ttC>ttT	p.F1946F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1946					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGAAAATTTCTTGGGTTTTT	0.343000														98			22		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48663735	48663735	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48663735G>A	uc003cuf.1	-	54	12339	c.12339C>T	c.(12337-12339)acC>acT	p.T4113T	CELSR3_uc003cug.3_Silent_p.T706T|CELSR3_uc011bbp.2_Silent_p.T691T|CELSR3_uc010hke.3_Silent_p.T559T|CELSR3_uc003cuk.3_Silent_p.T619T|CELSR3_uc003cuh.3_Silent_p.T727T|CELSR3_uc003cui.3_Silent_p.T726T|CELSR3_uc003cuj.3_Silent_p.T708T	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GATGCTTCTTGGTGATGGATG	0.582000														79			13		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579376	44579376	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44579376C>T	uc003tlb.3	-	1	676	c.620G>A	c.(619-621)gGa>gAa	p.G207E	NPC1L1_uc011kbw.2_Missense_Mutation_p.G207E|NPC1L1_uc003tlc.3_Missense_Mutation_p.G207E|NPC1L1_uc003tld.3_Missense_Mutation_p.G207E	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	207					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)	GCCTGTGTCTCCCTGGAAGTT	0.632000														70			26		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585738	179585738	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179585738C>T	uc021vsy.1	-	75	19501	c.19276G>A	c.(19276-19278)Gaa>Aaa	p.E6426K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3087K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7353	Ig-like 45.						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)			GCACTAGCTTCATTGATCGTA	0.433000														78			32		0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130505248	130505248	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:130505248G>A	uc003qbw.3	-	7	982	c.654_splice	c.e7+1	p.F218_splice	SAMD3_uc003qbx.3_Splice_Site_p.F218_splice|SAMD3_uc010kfg.1_Splice_Site_p.F218_splice|SAMD3_uc003qby.3_Splice_Site_p.F218_splice|SAMD3_uc003qbz.1_Splice_Site_p.F177_splice	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	218										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GGTCACTTACGAAGCCACAGC	0.468000														13			10		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190068213	190068213	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:190068213C>T	uc001gse.1	-	7	1468	c.1236G>A	c.(1234-1236)gaG>gaA	p.E412E	FAM5C_uc010pot.1_Silent_p.E310E	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	412						extracellular region		p.E412K(1)		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)					GGAGGCCGTTCTCATTGCAGT	0.488000														27			13		0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70342950	70342950	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:70342950C>T	uc004dyy.3	+	10	1690	c.1491C>T	c.(1489-1491)tcC>tcT	p.S497S	MED12_uc011mpq.1_Silent_p.S497S|MED12_uc004dyz.3_Silent_p.S497S|MED12_uc004dza.3_Silent_p.S344S|MED12_uc022byq.1_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	497					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)					TCCAGATCTCCTCAGATGATG	0.483000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							64			82		0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41165887	41165887	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:41165887G>A	uc010jxm.1	-	1	515	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	112	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGGGTACAGGATCCCAGAGG	0.622000														39			9		0	0	1	0	0
POFUT1	23509	broad.mit.edu	37	20	30797941	30797941	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30797941C>T	uc002wxp.3	+	1	241	c.192C>T	c.(190-192)acC>acT	p.T64T	POFUT1_uc002wxo.3_Silent_p.T64T|POFUT1_uc010ztt.2_Intron|POFUT1_uc010ztu.2_Intron|PLAGL2_uc002wxn.2_5'Flank	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA.	64					Notch signaling pathway|O-glycan processing|fucose metabolic process|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TAAACCGTACCTTGGCTGTCC	0.547000														195			27		0	0	1	0	0
FOXRED1	55572	broad.mit.edu	37	11	126143269	126143269	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:126143269C>T	uc001qdi.3	+	3	623	c.456C>T	c.(454-456)ctC>ctT	p.L152L	FOXRED1_uc010sbn.2_5'UTR|FOXRED1_uc010sbq.2_Missense_Mutation_p.P21S|FOXRED1_uc010sbo.2_Non-coding_Transcript|FOXRED1_uc010sbp.2_5'UTR|FOXRED1_uc010sbr.2_Silent_p.L138L|FOXRED1_uc001qdk.3_5'UTR	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	152						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CCCTGGACCTCCGGTTCAACC	0.557000														120			31		0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802755	24802755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:24802755C>T	uc002dmm.3	+	5	2906	c.2792C>T	c.(2791-2793)tCt>tTt	p.S931F	TNRC6A_uc010bxs.3_Missense_Mutation_p.S678F|TNRC6A_uc010vcc.1_Missense_Mutation_p.S678F|TNRC6A_uc002dmn.3_Missense_Mutation_p.S678F|TNRC6A_uc002dmo.3_Missense_Mutation_p.S678F	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	931	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTAATCAGTCTCTAGGTTGG	0.468000														57			26		0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27939826	27939826	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27939826C>T	uc001boj.3	-	9	1431	c.1285G>A	c.(1285-1287)Gct>Act	p.A429T	FGR_uc001boi.3_Missense_Mutation_p.A132T|FGR_uc001bok.3_Missense_Mutation_p.A429T|FGR_uc001bol.3_Missense_Mutation_p.A429T|FGR_uc001bom.3_Missense_Mutation_p.A429T	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	429	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAGAGGGCAGCTTCTGGGGCT	0.547000														120			12		0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38127004	38127004	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:38127004G>A	uc001izd.1	-	3	550	c.51C>T	c.(49-51)ttC>ttT	p.F17F	ZNF248_uc009xmc.2_Silent_p.F17F|ZNF248_uc001izb.3_Non-coding_Transcript|ZNF248_uc001izc.3_Silent_p.F17F|ZNF248_uc010qeu.1_Silent_p.F17F	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CTTCCTGAGTGAAGTCCACAC	0.383000														130			38		0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111145995	111145995	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111145995C>T	uc021oro.1	-	0	1410	c.1410G>A	c.(1408-1410)gaG>gaA	p.E470E	KCNA2_uc009wfv.2_Intron|KCNA2_uc009wfw.3_Silent_p.E470E	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	470						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)		CTCTAAAGTCCTCATTACTGT	0.388000														131			21		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166012313	166012313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166012313G>A	uc002ucx.3	-	9	1624	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	SCN3A_uc002ucy.3_Nonsense_Mutation_p.R378*|SCN3A_uc002ucz.3_Nonsense_Mutation_p.R378*|SCN3A_uc002uda.1_Nonsense_Mutation_p.R247*|SCN3A_uc002udb.1_Nonsense_Mutation_p.R247*	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	378						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R378Q(2)|p.R378*(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTCATGAGTCGAAATAGAGAC	0.413000														76			27		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101715232	101715232	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:101715232G>A	uc001kqj.2	-	3	2091	c.1999C>T	c.(1999-2001)Cgt>Tgt	p.R667C	DNMBP-AS1_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	667					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)		CAGGTAGGACGGTGTCGAGAT	0.597000														31			11		0	0	1	0	0
HEXA	3073	broad.mit.edu	37	15	72640430	72640430	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72640430G>A	uc002aun.4	-	8	1239	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	BC034424_uc002aug.3_Intron|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Silent_p.F355F|HEXA_uc010bix.3_Silent_p.F344F|HEXA_uc010biy.2_Silent_p.F207F|HEXA_uc010uko.1_Silent_p.F170F	NM_000520	NP_000511	P06865	HEXA_HUMAN	Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.	344					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						AGTCCTCACCGAAGCCTTTCT	0.517000														82			21		0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25811878	25811878	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:25811878A>G	uc003nfh.4	-	8	1134	c.1018T>C	c.(1018-1020)Ttc>Ctc	p.F340L	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Missense_Mutation_p.F340L|SLC17A1_uc010jqc.1_Missense_Mutation_p.F284L	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	340					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						GCTGCTGTGAAGAGTTTCCGG	0.458000														90			14		0	0	1	0	0
STEAP1B	256227	broad.mit.edu	37	7	22533207	22533207	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:22533207G>A	uc010kum.2	-	2	533	c.333C>T	c.(331-333)atC>atT	p.I111I	STEAP1B_uc003svh.3_Silent_p.I92I	NM_001164460	NP_001157932	Q6NZ63	STEAL_HUMAN	Homo sapiens STEAP family member 1B (STEAP1B), transcript variant 1, mRNA.	92						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						TGATGACCAGGATTGGAATTT	0.393000														97			19		0	0	1	0	0
ADSL	158	broad.mit.edu	37	22	40746003	40746004	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:40746003_40746004CC>TT	uc003ayp.4	+	1	380_381	c.321_322CC>TT	c.(319-324)cacctt>caTTtt	p.L108F	ADSL_uc003ays.4_Missense_Mutation_p.L108F	NM_000026	NP_000017	P30566	PUR8_HUMAN	Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA.	108					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GCATTATTCACCTTGGTGCTAC	0.421000														88			21		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513602	4513602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4513602C>T	uc002mar.1	-	2	328	c.328G>A	c.(328-330)Ggc>Agc	p.G110S	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	110	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTGTCCAGGCCTCCCTGGACC	0.657000														11			5		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	280286	280286	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:280286G>A	uc001qhw.2	+	12	3073	c.3073G>A	c.(3073-3075)Gaa>Aaa	p.E1025K	IQSEC3_uc001qhu.1_Missense_Mutation_p.E722K	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	1025					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AGCCAAAAGGGAAGCCGCGCT	0.617000														59			16		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997234	82997234	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82997234G>A	uc003uhy.2	-	16	2617	c.1996C>T	c.(1996-1998)Cgt>Tgt	p.R666C	SEMA3E_uc022agy.1_Missense_Mutation_p.R606C	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	666	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GTGATTTTACGGACCGTATGG	0.463000														76			39		0	0	1	0	0
IDE	3416	broad.mit.edu	37	10	94297234	94297234	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:94297234G>A	uc001kia.3	-	1	248	c.172C>T	c.(172-174)Cct>Tct	p.P58S		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	58					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGTCTTCAGGAGACTTGGTA	0.388000														135			10		0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164271863	164271863	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:164271863C>T	uc003iqn.3	+	3	620	c.438C>T	c.(436-438)ccC>ccT	p.P146P	NPY5R_uc021xtw.1_Silent_p.P146P	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	146					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TAAAACATCCCATATCTAATA	0.363000														174			70		0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52865921	52865921	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52865921G>A	uc001sal.4	-	1	732	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	228	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTTCCCCGACGATGCTGTCCA	0.597000														132			42		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100402849	100402849	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100402849C>T	uc003uwn.1	-	15	3264	c.2773G>A	c.(2773-2775)Gaa>Aaa	p.E925K	EPHB4_uc003uwm.1_Missense_Mutation_p.E832K|EPHB4_uc010lhj.1_Intron	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	925	SAM.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AAACTTTCTTCGTATCTTCCC	0.602000														16			4		0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15828640	15828640	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15828640G>A	uc001iod.1	-	12	1257	c.1036C>T	c.(1036-1038)Ctc>Ttc	p.L346F	FAM188A_uc001ioe.1_Missense_Mutation_p.L173F	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA.	346					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TTCTTCATGAGATTTATACTA	0.328000														103			19		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76503739	76503739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76503739G>A	uc010dhp.2	-	27	4510	c.4385C>T	c.(4384-4386)tCc>tTc	p.S1462F		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGGTACTTGGACATCATCAG	0.607000														34			5		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73569264	73569264	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73569264C>T	uc002joh.3	+	19	2784	c.2630C>T	c.(2629-2631)tCg>tTg	p.S877L	LLGL2_uc002joi.3_Missense_Mutation_p.S877L|LLGL2_uc010dgg.2_Missense_Mutation_p.S877L|LLGL2_uc002joj.3_Missense_Mutation_p.S866L|LLGL2_uc010wsd.2_Missense_Mutation_p.S504L	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	877					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGGTGGTCTCGCTGCCCCTG	0.652000														54			20		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488490	108488490	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:108488490C>T	uc010ywk.2	+	19	4112	c.4030C>T	c.(4030-4032)Cta>Tta	p.L1344L	RGPD4_uc002tdu.3_Silent_p.L531L|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1344	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTTACCTGATCTAGTTGAAGT	0.393000														278			113		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78789991	78789991	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:78789991C>T	uc004akc.2	+	13	2384	c.1846C>T	c.(1846-1848)Cgc>Tgc	p.R616C	PCSK5_uc004ajy.2_Missense_Mutation_p.R616C|PCSK5_uc004ajz.3_Missense_Mutation_p.R616C|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	616					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.R616H(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGAACGGTTCCGCTATAGCCG	0.488000														83			35		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47538583	47538583	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:47538583G>A	uc002zia.1	+	12	1254	c.1172G>A	c.(1171-1173)gGa>gAa	p.G391E	COL6A2_uc002zhz.1_Missense_Mutation_p.G391E|COL6A2_uc002zhy.1_Missense_Mutation_p.G391E	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	391	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGGCCAAGGGAAGCAAGGTG	0.642000														14			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	15	22473014	22473014	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22473014C>T	uc001yuj.2	-	6		c.314G>A								Parts of antibodies, mostly variable regions.																		TATGGTGACTCGACTCTTGAG	0.577000														375			40		0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285350	44285350	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:44285350C>T	uc010qfe.1	-	0	516	c.486G>A	c.(484-486)caG>caA	p.Q162Q						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		TTTTTCCACTCTGCCTGTCTT	0.333000														69			31		0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48327813	48327813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:48327813C>T	uc010dpa.3	-	4	682	c.533G>A	c.(532-534)gGg>gAg	p.G178E	MRO_uc010xdn.2_Intron|MRO_uc002lew.4_Missense_Mutation_p.G164E|MRO_uc010dpb.3_Intron|MRO_uc010dpc.3_Intron|MRO_uc002lex.4_Missense_Mutation_p.G164E	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	164						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CCATTTCCTCCCGGCAAAGGC	0.468000														134			69		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35163649	35163649	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:35163649C>T	uc003teq.1	-	12	1554	c.447G>A	c.(445-447)ttG>ttA	p.L149L	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TCAGAAATTTCAAAATGATTG	0.318000														90			29		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065576	23065577	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:23065576_23065577GG>AA	uc002wsv.3	-	0	1401_1402	c.1253_1254CC>TT	c.(1252-1254)gcc>gTT	p.A418V		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	418	EGF-like 4; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGTCCTCCCCGGCCAGGACGTA	0.634000														64			35		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215896555	215896555	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:215896555G>A	uc002vew.3	-	8	1271	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L	ABCA12_uc002vev.3_Silent_p.L33L|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	351					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.L351P(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTGCAGCCAGACTGCTTGGA	0.328000														122			49		0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22059407	22059407	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:22059407C>T	uc003xbg.3	+	15	2465	c.2199C>T	c.(2197-2199)ttC>ttT	p.F733F	BMP1_uc003xbf.3_3'UTR|BMP1_uc003xbb.3_3'UTR|BMP1_uc003xbc.3_3'UTR|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Silent_p.F482F|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	733	EGF-like 2; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCAGTGGCTTCGTCCTCCATG	0.602000														23			4		0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4842683	4842683	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4842683C>T	uc010qyn.2	+	0	68	c.68C>T	c.(67-69)cCt>cTt	p.P23L		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTGCTGAGCCTCTGATCTTC	0.438000														272			115		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8602908	8602908	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:8602908C>T	uc003glm.3	+	2	354	c.180C>T	c.(178-180)acC>acT	p.T60T	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.T49T|CPZ_uc003gln.3_5'UTR	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	60	FZ.				Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACCACACCACCTTCCCCAACC	0.642000														49			16		0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100210593	100210593	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100210593C>T	uc003uvq.3	+	1	381	c.179C>T	c.(178-180)cCc>cTc	p.P60L	MOSPD3_uc003uvr.3_Missense_Mutation_p.P60L|MOSPD3_uc003uvs.3_Missense_Mutation_p.P60L|MOSPD3_uc003uvt.3_Missense_Mutation_p.P60L	NM_001040097	NP_076438	O75425	MSPD3_HUMAN	Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA.	60	MSP.					integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTCTATAACCCCACAGGAACT	0.647000														139			28		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38523620	38523620	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38523620G>A	uc010ive.1	-	4	794	c.462C>T	c.(460-462)taC>taT	p.Y154Y	LIFR_uc003jli.2_Silent_p.Y154Y	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	154					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCCACTTTAGGTATAATGTAG	0.363000			T	PLAG1	salivary adenoma									79			14		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229775	87229775	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:87229775G>A	uc003ydq.1	-	2	1201	c.1103C>T	c.(1102-1104)tCa>tTa	p.S368L	SLC7A13_uc003ydr.1_Missense_Mutation_p.S359L	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	368						integral to membrane	amino acid transmembrane transporter activity	p.S368L(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AGACCATAATGAACCCGTGAA	0.323000														56			13		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168861618	168861618	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:168861618G>A	uc011bpj.1	-	2	781	c.378C>T	c.(376-378)atC>atT	p.I126I	MECOM_uc003ffj.3_Silent_p.I2I|MECOM_uc003ffi.3_5'UTR|MECOM_uc011bpi.1_5'UTR|MECOM_uc003ffn.3_5'UTR|MECOM_uc003ffk.2_5'UTR|MECOM_uc003ffl.2_Silent_p.I98I|MECOM_uc011bpk.1_5'UTR|MECOM_uc010hwn.2_Silent_p.I126I|MECOM_uc003ffm.1_Silent_p.I2I	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	126							sequence-specific DNA binding transcription factor activity	p.H125N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATTCGTCTAAGATCTGGAGGG	0.373000														133			25		0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158500435	158500435	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:158500435C>T	uc010jip.3	-	5	825	c.523G>A	c.(523-525)Gag>Aag	p.E175K	EBF1_uc011ddw.2_Missense_Mutation_p.E42K|EBF1_uc011ddx.2_Missense_Mutation_p.E175K|EBF1_uc003lxl.4_Intron	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	175					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGGGAGTCTCATTTCGGTTG	0.418000			T	HMGA2	lipoma									115			60		0	0	1	0	0
C10orf27	219793	broad.mit.edu	37	10	72539488	72539488	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72539488C>T	uc010qjm.1	-	4	678	c.288G>A	c.(286-288)ggG>ggA	p.G96G	C10orf27_uc001jrj.1_Silent_p.G96G|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Silent_p.G96G|C10orf27_uc009xqi.1_Intron|C10orf27_uc010qjo.1_Silent_p.G85G|C10orf27_uc009xqj.1_Missense_Mutation_p.G91E|C10orf27_uc010qjp.1_Silent_p.G85G	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	96					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						AGACAGGCTTCCCGGTGAGAT	0.562000														42			16		0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66259201	66259201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66259201C>T	uc001oig.1	+	8	1024	c.962C>T	c.(961-963)cCc>cTc	p.P321L	DPP3_uc001oif.1_Missense_Mutation_p.P321L|DPP3_uc010rpe.1_Missense_Mutation_p.P310L	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	321					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TACCGCGACCCCTTTGGTTCC	0.612000														197			88		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62239438	62239438	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:62239438G>A	uc002agz.3	-	42	4921	c.4830C>T	c.(4828-4830)gtC>gtT	p.V1610V	VPS13C_uc002aha.3_Silent_p.V1567V|VPS13C_uc002ahb.2_Silent_p.V1610V|VPS13C_uc002ahc.2_Silent_p.V1567V	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1610					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CACAGACAAAGACATTAAATG	0.308000														151			51		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7152762	7152762	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7152762G>A	uc002mgd.1	-	9	2315	c.2206C>T	c.(2206-2208)Ctg>Ttg	p.L736L	INSR_uc002mge.1_Silent_p.L736L|INSR_uc002mgf.3_Silent_p.L736L	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	736					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACGTTGTGCAGGTAATCCTCA	0.542000														156			62		0	0	1	0	0
BLVRA	644	broad.mit.edu	37	7	43846778	43846778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:43846778C>T	uc010kxv.3	+	8	1012	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L	BLVRA_uc003tir.3_Silent_p.L279L	NM_001253823	NP_001240752	P53004	BIEA_HUMAN	Homo sapiens biliverdin reductase A (BLVRA), transcript variant 2, mRNA.	279					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	GAAACGCATCCTGCACTGCCT	0.433000														75			32		0	0	1	0	0
GBE1	2632	broad.mit.edu	37	3	81698078	81698078	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:81698078G>A	uc021xav.1	-	4	902	c.620C>T	c.(619-621)tCt>tTt	p.S207F	GBE1_uc021xax.1_Missense_Mutation_p.S166F	NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	207					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TTCATGGGAAGAAATTCCCAC	0.333000									Glycogen Storage Disease, type IV					17			9		0	0	1	0	0
GNA11	2767	broad.mit.edu	37	19	3119345	3119345	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3119345C>T	uc002lxd.3	+	5	1119	c.877C>T	c.(877-879)Ccc>Tcc	p.P293S	DKFZp434J194_uc010xhe.2_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	293					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GGACTACTTCCCCGAGTTCGA	0.632000			Mis		uveal melanoma									72			32		0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6639129	6639129	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6639129C>T	uc001ant.3	+	5	2107	c.2011C>T	c.(2011-2013)Cac>Tac	p.H671Y	TAS1R1_uc001anu.3_Missense_Mutation_p.H417Y|TAS1R1_uc021ofp.1_3'UTR|ZBTB48_uc009vmc.2_5'Flank|ZBTB48_uc001anx.3_5'Flank|ZBTB48_uc009vmd.2_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	671					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TACATTCTACCACGCCTGGGT	0.517000														112			23		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92102845	92102845	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:92102845G>A	uc001xzs.1	-	16	1806	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S	CATSPERB_uc010aub.1_Missense_Mutation_p.P78S	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	556					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TCGTTCTCAGGTACATATGCA	0.413000														76			15		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875172	247875172	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247875172C>T	uc001idj.1	-	0	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E296K(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCTCTTACTTCCTTATTACGA	0.428000														148			61		0	0	1	0	0
COPS2	9318	broad.mit.edu	37	15	49431756	49431756	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:49431756G>A	uc001zxh.3	-	3	420	c.341C>T	c.(340-342)tCt>tTt	p.S114F	COPS2_uc001zxf.3_Missense_Mutation_p.S114F|COPS2_uc010ufa.2_Missense_Mutation_p.S50F	NM_001143887	NP_001137359	P61201	CSN2_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) (COPS2), transcript variant 2, mRNA.	114					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ATCAAGAATAGAATTAATGGA	0.328000														89			34		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142574200	142574200	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142574200G>A	uc003wbx.2	-	5	952	c.723C>T	c.(721-723)ctC>ctT	p.L241L	TRPV6_uc003wbw.1_Silent_p.L27L|TRPV6_uc010lou.1_Silent_p.L112L	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	241					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGAAAGGGGTGAGACCCTGGT	0.572000														32			25		0	0	1	0	0
ZNF587	84914	broad.mit.edu	37	19	58367558	58367558	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58367558C>T	uc002qql.3	+	1	346	c.120C>T	c.(118-120)taC>taT	p.Y40Y	ZNF587_uc002qqb.2_5'UTR|ZNF587_uc002qqi.2_5'UTR|ZNF587_uc010yhh.2_5'UTR|ZNF587_uc021vco.1_Silent_p.Y40Y|ZNF587_uc002qqj.1_Non-coding_Transcript|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.2_Silent_p.Y39Y	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	Homo sapiens zinc finger protein 587 (ZNF587), transcript variant 1, mRNA.	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GGTGCTTGTACCGTGATGTGA	0.498000														91			16		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68972915	68972915	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:68972915G>A	uc003xxv.1	+	11	1266	c.1239_splice	c.e11-1	p.S413_splice	PREX2_uc003xxu.1_Splice_Site_p.S413_splice|PREX2_uc011lez.1_Splice_Site_p.S348_splice	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	413	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.E414K(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTCTTGCAGCGAATTTGTGTC	0.418000														66			19		0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27411786	27411786	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:27411786G>A	uc001iti.3	-	11	1600	c.1390C>T	c.(1390-1392)Ctt>Ttt	p.L464F	YME1L1_uc001itj.3_Missense_Mutation_p.L407F|YME1L1_uc010qdl.2_Missense_Mutation_p.L374F	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	464					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATTTCAGCAAGAAGTTGATTT	0.343000														66			30		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131755565	131755565	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:131755565C>T	uc021qav.1	-	5	570	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	EBF3_uc001lki.2_Missense_Mutation_p.G171S	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	171					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.T156T(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TTTCTATTGCCACAACTTTTC	0.388000														104			28		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15375521	15375521	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15375521G>A	uc002nar.3	-	5	1128	c.906C>T	c.(904-906)ccC>ccT	p.P302P	BRD4_uc002nas.3_Silent_p.P302P|BRD4_uc002nat.3_Silent_p.P302P|BRD4_uc002nau.4_Silent_p.P302P	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	302					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCTCGTGAATGGGGTCAATGG	0.622000			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		180			35		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646505	57646505	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57646505G>A	uc002qnz.1	-	4	1586	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTTCTGAAAGAAGGCTTTTC	0.378000														170			69		0	0	1	0	0
SLAMF1	6504	broad.mit.edu	37	1	160607071	160607071	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160607071C>T	uc001fwl.4	-	1	671	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript|SLAMF1_uc001fwm.3_Missense_Mutation_p.E109K	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.	109					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTCCTGCTTTCCCGTATCCCC	0.468000														97			36		0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15654992	15654992	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15654992G>A	uc002nbh.4	+	9	1205	c.1038G>A	c.(1036-1038)tgG>tgA	p.W346*		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	346						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GGATCTCTTGGATGCTGTTCA	0.507000														105			39		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954784	33954784	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:33954784G>A	uc001zhi.3	+	34	5123	c.5053G>A	c.(5053-5055)Gag>Aag	p.E1685K	RYR3_uc010bar.3_Missense_Mutation_p.E1685K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1685	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCAGAGCCCCGAGATTCCCTT	0.592000														85			33		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175041968	175041968	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:175041968C>T	uc003fit.3	+	4	1031	c.944C>T	c.(943-945)tCc>tTc	p.S315F	NAALADL2_uc003fiu.1_Missense_Mutation_p.S308F|NAALADL2_uc010hwy.1_Missense_Mutation_p.S137F|NAALADL2_uc010hwz.1_Intron	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	315					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TTTTAGCTTTCCTCATTGGAA	0.378000														262			43		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95142932	95142932	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:95142932G>A	uc003ygh.2	-	16	2445	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.R774W	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	774	Cadherin 7.					integral to membrane	calcium ion binding	p.R774W(2)|p.R774Q(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTGCTGGCCGGAAACAACTT	0.448000														34			15		0	0	1	0	0
OR5AU1	390445	broad.mit.edu	37	14	21624046	21624046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21624046C>T	uc010tlp.2	-	0	139	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CTCCAGTGCTCTGCGATGGAG	0.532000														90			38		0	0	1	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22839618	22839618	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:22839618G>A	uc001irl.4	-	6	1010	c.762C>T	c.(760-762)gtC>gtT	p.V254V	PIP4K2A_uc010qcu.2_Silent_p.V114V	NM_005028	NP_005019	P48426	PI42A_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA.	254	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TTTCCAGGAAGACCTTCTTGT	0.368000											OREG0020068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		187			28		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762729	24762729	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:24762729C>T	uc001iru.4	+	5	1822	c.1419C>T	c.(1417-1419)gcC>gcT	p.A473A	KIAA1217_uc001irs.3_Silent_p.A393A|KIAA1217_uc001irt.4_Silent_p.A473A|KIAA1217_uc010qcy.2_Silent_p.A473A|KIAA1217_uc010qcz.2_Silent_p.A473A|KIAA1217_uc001irv.1_Silent_p.A323A|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.A191A|KIAA1217_uc001irz.3_Silent_p.A191A|KIAA1217_uc001irx.3_Silent_p.A191A|KIAA1217_uc001iry.3_Silent_p.A191A	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	473					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CACCCCCTGCCTCTCCTCACA	0.532000														84			38		0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81122553	81122553	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:81122553G>A	uc010ijo.3	+	6	1168	c.329G>A	c.(328-330)gGa>gAa	p.G110E	PRDM8_uc003hmb.4_Missense_Mutation_p.G110E|PRDM8_uc003hmc.4_Missense_Mutation_p.G110E	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	110	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						ATAAAAAACGGACAGCTGTTC	0.502000														58			17		0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245655	59245655	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59245655C>T	uc001nnz.1	+	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F249L(1)|p.P251T(1)|p.V250V(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCTGCATTTCGTGCCCTGCA	0.547000														186			77		0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76149896	76149896	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:76149896C>T	uc010ask.2	+	4	543	c.268C>T	c.(268-270)Cac>Tac	p.H90Y	TTLL5_uc001xrw.2_Missense_Mutation_p.H90Y|TTLL5_uc001xrx.3_Missense_Mutation_p.H90Y|TTLL5_uc001xrv.3_Missense_Mutation_p.H90Y	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	90	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCTCAGGTTCACCCAAGCAG	0.453000														83			28		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234581261	234581261	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234581261C>T	uc002vus.3	+	0	718	c.681C>T	c.(679-681)gcC>gcT	p.A227A	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Silent_p.A227A	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	230					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TCAAAAATGCCCTAGAAATAG	0.423000														440			89		0	0	1	0	0
FAM75A3	727830	broad.mit.edu	37	9	40702809	40702809	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:40702809G>A	uc010mmj.3	+	3	495	c.466G>A	c.(466-468)Gat>Aat	p.D156N		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	156	Pro-rich.					integral to membrane		p.D156N(3)|p.P155P(1)		kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGCTTCCCCGGATCCTCAAGC	0.597000														260			56		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135647	55135647	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55135647C>T	uc010rif.2	+	0	288	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTTTATCATTCATAGATACCG	0.433000														160			53		0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209784817	209784817	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:209784817G>A	uc001hhd.3	+	9	937	c.835G>A	c.(835-837)Gga>Aga	p.G279R	CAMK1G_uc001hhf.4_Missense_Mutation_p.G279R|CAMK1G_uc001hhe.3_Missense_Mutation_p.G279R	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	279	Autoinhibitory domain (By similarity).					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CAGGATTGACGGAAACACAGC	0.562000														24			5		0	0	1	0	0
BARHL1	56751	broad.mit.edu	37	9	135462841	135462841	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135462841G>A	uc004cbp.1	+	1	784	c.592G>A	c.(592-594)Gag>Aag	p.E198K		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	Homo sapiens BarH-like homeobox 1 (BARHL1), mRNA.	198						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		GCGCAGCTTCGAGCGGCAGAA	0.662000														18			4		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19411887	19411887	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19411887G>A	uc010tcj.1	-	0		c.34223C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		gtagcaagcagagatcccacc	0.507000														38			4		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19195304	19195304	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19195304C>T	uc002dfw.3	+	4	1117	c.786C>T	c.(784-786)ttC>ttT	p.F262F	SYT17_uc002dfx.3_Silent_p.F201F|SYT17_uc002dfy.3_Silent_p.F258F	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	262	C2 1.					membrane|synaptic vesicle	transporter activity	p.T261T(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GCTACACCTTCGAGATCCCCT	0.557000														112			62		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49227424	49227424	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:49227424C>T	uc010zyt.2	-	5	643	c.392G>A	c.(391-393)aGg>aAg	p.R131K	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.R127K|FAM65C_uc002xvn.1_Missense_Mutation_p.R127K	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	127										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						CCGAATGTGCCTTTCCACACA	0.597000														86			33		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128044	6128044	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6128044A>G	uc001qnn.1	-	27	4790	c.4540T>C	c.(4540-4542)Ttc>Ctc	p.F1514L	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1514	VWFA 2.		F -> C (in VWD2).		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCCTGTTGAAGTCGGCTTCA	0.572000														41			7		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70919657	70919657	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:70919657C>T	uc021vjc.1	-	6	848	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.V195M|ADD2_uc002sgz.3_Missense_Mutation_p.V195M|ADD2_uc010fdt.2_Missense_Mutation_p.V195M|ADD2_uc002shc.2_Missense_Mutation_p.V195M|ADD2_uc010fdu.2_Missense_Mutation_p.V211M	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	195					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCCTTCTCCACCACCTCTCCC	0.617000														33			14		0	0	1	0	0
ING3	54556	broad.mit.edu	37	7	120609222	120609222	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:120609222C>T	uc003vjn.3	+	8	1006	c.872C>T	c.(871-873)tCa>tTa	p.S291L	ING3_uc003vjo.3_Missense_Mutation_p.S65L|ING3_uc003vjp.3_Missense_Mutation_p.S291L|ING3_uc011kns.2_Missense_Mutation_p.S276L	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.	291					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					AATGCCAGTTCATCAGCAGCC	0.418000														69			24		0	0	1	0	0
MAPK1	5594	broad.mit.edu	37	22	22123583	22123583	+	Silent	SNP	G	A	A	rs62235129		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22123583G>A	uc002zvn.3	-	7	1233	c.993C>T	c.(991-993)ttC>ttT	p.F331F	MAPK1_uc002zvo.3_Silent_p.F331F|MAPK1_uc010gtk.1_Silent_p.F287F	NM_002745	NP_620407	P28482	MK01_HUMAN	Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA.	331					ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|regulation of sequence-specific DNA binding transcription factor activity|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|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|RNA polymerase II carboxy-terminal domain kinase activity|phosphatase binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	ATTCCATGTCGAACTTGAATG	0.368000														60			32		0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	120008510	120008510	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:120008510C>T	uc001pwz.3	-	0	354	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	77					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R77L(4)|p.R76W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GATGATGGGTCGCCGCCACTC	0.637000														189			81		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79051844	79051844	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:79051844G>A	uc002bej.4	-	23	5191	c.4980C>T	c.(4978-4980)atC>atT	p.I1660I		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1660	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						ACTGGGTGCGGATGGTGGGCA	0.721000														11			4		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10440650	10440650	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10440650C>T	uc010coi.3	-	15	1925	c.1797G>A	c.(1795-1797)aaG>aaA	p.K599K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.K599K|MYH2_uc010coj.3_Silent_p.K599K	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	599	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGTCCTTGTTCTTCTCCAGCC	0.527000														91			69		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325619	152325619	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152325619C>T	uc001ezw.4	-	2	4716	c.4643G>A	c.(4642-4644)gGa>gAa	p.G1548E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1548							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)			AGTGGTATCTCCTGTCTGTCC	0.473000														368			72		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886395	3886395	+	Missense_Mutation	SNP	G	A	A	rs140162397		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:3886395G>A	uc003bpt.4	+	1	831	c.70G>A	c.(70-72)Gag>Aag	p.E24K	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.E24K	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	24						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTCATTAACCGAGTCTTCCAT	0.473000														77			6		0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346369	29346369	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:29346369G>C	uc001zck.3	+	2	486	c.282G>C	c.(280-282)gaG>gaC	p.E94D	APBA2_uc010azj.2_Missense_Mutation_p.E94D|APBA2_uc010uat.2_Missense_Mutation_p.E94D|APBA2_uc001zcl.3_Missense_Mutation_p.E94D|APBA2_uc010uas.1_Missense_Mutation_p.E94D	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	94	Poly-Glu.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTGAGGAGGAGGAGGGCATCA	0.607000														124			24		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32200883	32200883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:32200883C>T	uc011alu.2	+	16	1401	c.1199C>T	c.(1198-1200)cCt>cTt	p.P400L	DEPDC5_uc011als.2_Missense_Mutation_p.P400L|DEPDC5_uc003als.3_Missense_Mutation_p.P400L|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.P400L|DEPDC5_uc003alr.2_Missense_Mutation_p.P400L|DEPDC5_uc011alt.2_Missense_Mutation_p.P372L	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	400					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TATAATATCCCTCACTGGATA	0.433000														230			21		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915242	119915242	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:119915242G>A	uc003vjj.1	+	0	1521	c.556G>A	c.(556-558)Gtg>Atg	p.V186M		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	186					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)					GATGGCCCTGGTGTTCTACTA	0.577000														55			12		0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86954832	86954832	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:86954832G>A	uc001dlt.3	+	7	1596	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	CLCA1_uc001dls.1_Missense_Mutation_p.E385K	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	446	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TCAAGAACTAGAGGAGCTGTC	0.527000														44			7		0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252337	124252337	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124252337C>T	uc010sai.2	-	0	903	c.903G>A	c.(901-903)agG>agA	p.R301R		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		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;0.0277)		TCAGAGCTTTCCTCAGTGCAA	0.348000														85			32		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31434475	31434475	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31434475G>A	uc010cap.1	+	23	2873	c.2824G>A	c.(2824-2826)Gat>Aat	p.D942N	ITGAD_uc002ebv.1_Missense_Mutation_p.D941N	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	941					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCAACCTCCGATGAGAAGAA	0.498000														47			12		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36884182	36884182	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36884182G>A	uc003cgj.3	-	16	5327	c.5079C>T	c.(5077-5079)ttC>ttT	p.F1693F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1693					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGGTCTTAACGAACATGCTAT	0.463000														12			28		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26636735	26636735	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:26636735G>A	uc001rhg.3	-	41	6325	c.5908C>T	c.(5908-5910)Ctg>Ttg	p.L1970L	ITPR2_uc009zjg.1_Silent_p.L121L	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1970					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.G1969D(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AACAGGCCCAGGCCACCGGTT	0.468000														176			23		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73616252	73616252	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:73616252C>T	uc002avp.3	-	7	3176	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	728					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GAGTTGAGGTCGTGCTGGACT	0.592000														115			9		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167039933	167039933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:167039933C>T	uc011bpc.2	-	11	1292	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	ZBBX_uc003feq.3_Missense_Mutation_p.E290K|ZBBX_uc003fep.3_Missense_Mutation_p.E319K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	319						intracellular	zinc ion binding	p.M318V(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CATAATTTTTCCATATAGGAT	0.289000														68			29		0	0	1	0	0
PPAP2C	8612	broad.mit.edu	37	19	288132	288132	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:288132G>A	uc002loh.3	-	1	258	c.155C>T	c.(154-156)cCg>cTg	p.P52L	PPAP2C_uc002loi.3_Missense_Mutation_p.P31L|PPAP2C_uc002loj.3_5'UTR	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	31					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TCGCTTGTACGGGGCGTTCAC	0.627000														77			36		0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136268834	136268834	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:136268834G>A	uc004cdk.3	+	14	1546	c.1485G>A	c.(1483-1485)gtG>gtA	p.V495V	C9orf96_uc004cdl.3_Non-coding_Transcript	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.	495							ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTATCATTGTGAACAAGGCCC	0.617000														19			8		0	0	1	0	0
QRFP	347148	broad.mit.edu	37	9	133768912	133768912	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:133768912C>T	uc011mcb.2	-	0	314	c.314G>A	c.(313-315)gGg>gAg	p.G105E		NM_198180	NP_937823	P83859	OX26_HUMAN	Homo sapiens pyroglutamylated RFamide peptide (QRFP), mRNA.	105					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)		GGTCTTCTCCCCCGCAGCAGG	0.647000														106			36		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56288149	56288149	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:56288149C>T	uc010qhy.1	-	3	501	c.106_splice	c.e3+1	p.D36_splice	PCDH15_uc010qhq.2_Splice_Site_p.D36_splice|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Splice_Site_p.D36_splice|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Intron|PCDH15_uc021pqz.1_Intron|PCDH15_uc010qhv.1_Intron|PCDH15_uc010qhw.1_Intron|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhz.1_Intron|PCDH15_uc010qia.1_Intron|PCDH15_uc001jju.1_Intron|PCDH15_uc010qib.1_Intron|PCDH15_uc001jjw.3_Intron	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	31					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)				TCATCTTACCCTCATATTGCC	0.323000										HNSCC(58;0.16)				9			3		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19746291	19746291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19746291C>T	uc002nnd.3	-	14	1610	c.1493G>A	c.(1492-1494)cGa>cAa	p.R498Q	GMIP_uc010xrb.2_Missense_Mutation_p.R472Q|GMIP_uc010xrc.2_Missense_Mutation_p.R469Q	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	498					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCCCCGCAGTCGCCGCAGCTG	0.647000														58			20		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401081	10401081	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10401081G>A	uc002gmo.3	-	30	4429	c.4335C>T	c.(4333-4335)gcC>gcT	p.A1445A	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1445			A -> T (in a breast cancer sample; somatic mutation).			muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.A1445T(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTTTGTCCAGGGCGGCACAGG	0.453000														62			41		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120263021	120263021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:120263021G>A	uc001txj.2	-	7	961	c.905C>T	c.(904-906)cCc>cTc	p.P302L	CIT_uc001txi.2_Missense_Mutation_p.P302L	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	302	Protein kinase.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCTGCGAAGGGGGATCTCCC	0.468000														73			35		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39680673	39680673	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39680673G>A	uc010wfs.2	-	6	1277	c.1269C>T	c.(1267-1269)gcC>gcT	p.A423A	KRT15_uc002hxb.1_5'Flank|KRT15_uc002hxc.1_5'Flank|JUP_uc002hxd.4_Silent_p.A260A	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGTTCTGCTCGGCCATGACCT	0.602000														84			10		0	0	1	0	0
DPT	1805	broad.mit.edu	37	1	168698157	168698157	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:168698157C>T	uc001gfp.3	-	0	286	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K		NM_001937	NP_001928	Q07507	DERM_HUMAN	Homo sapiens dermatopontin (DPT), mRNA.	86	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					TCCGTGGGTTCCCCGAGGCTC	0.592000														65			36		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147756	82147756	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:82147756G>A	uc001szo.2	-	2	406	c.245C>T	c.(244-246)cCa>cTa	p.P82L	PPFIA2_uc021rbi.1_Missense_Mutation_p.P82L|PPFIA2_uc021rbj.1_Missense_Mutation_p.P82L|PPFIA2_uc021rbk.1_Missense_Mutation_p.P82L|PPFIA2_uc021rbl.1_Missense_Mutation_p.P82L	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	340										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCATACCTGTGGCAGGGCTGA	0.443000														19			9		0	0	1	0	0
LY86	9450	broad.mit.edu	37	6	6649878	6649878	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:6649878C>T	uc003mwy.1	+	3	407	c.373C>T	c.(373-375)Cct>Tct	p.P125S	LY86_uc003mwz.1_Non-coding_Transcript	NM_004271	NP_004262	O95711	LY86_HUMAN	Homo sapiens lymphocyte antigen 86 (LY86), mRNA.	125					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CTATGCTGGGCCTGTCAATAA	0.299000														57			28		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106543539	106543539	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:106543539G>A	uc003prd.2	+	2	575	c.341G>A	c.(340-342)gGa>gAa	p.G114E		NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	114	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		ACACGTTTTGGACCCCTAATA	0.368000			"""D, N, Mis, F, S"""		DLBCL									31			34		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100594382	100594382	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:100594382C>T	uc003dun.3	-	7	893	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	ABI3BP_uc003duo.2_Missense_Mutation_p.E263K|ABI3BP_uc003dup.4_Missense_Mutation_p.E263K	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	270						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGAGCTTTTTCTGGGGATTTA	0.438000														45			19		0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27660021	27660021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:27660021C>T	uc002dow.3	+	5	529	c.505C>T	c.(505-507)Ctc>Ttc	p.L169F	KIAA0556_uc002dox.1_Missense_Mutation_p.L34F	NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	169										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGATGTGACTCTCCAGGCAAA	0.562000														42			10		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124915205	124915205	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124915205G>A	uc021rga.1	-	8	1128	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	NCOR2_uc021rgb.1_Silent_p.F337F|NCOR2_uc010tbb.2_Silent_p.F337F|NCOR2_uc010tbc.2_Silent_p.F337F|NCOR2_uc021rgc.1_Silent_p.F337F|NCOR2_uc010tba.2_Silent_p.F337F|NCOR2_uc001ugj.1_Silent_p.F337F|NCOR2_uc001ugk.1_Silent_p.F337F	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	337					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGATCTCAGGGAACTGCTTCT	0.677000														118			38		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103908594	103908594	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:103908594C>T	uc001kum.3	+	11	4677	c.4638C>T	c.(4636-4638)ttC>ttT	p.F1546F	PPRC1_uc001kun.3_Silent_p.F1424F|PPRC1_uc010qqj.2_Silent_p.F1282F|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1546	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGGTGGTCTTCATTGGAAAGA	0.483000														40			21		0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18165325	18165325	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:18165325C>T	uc021wbb.1	+	8	2501	c.2064C>T	c.(2062-2064)ggC>ggT	p.G688G	CSRP2BP_uc002wqk.3_Silent_p.G560G|CSRP2BP_uc010zru.2_Silent_p.G559G	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	688	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTGCCTTTGGCTTCATGGTTC	0.408000														86			42		0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67577114	67577114	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67577114C>T	uc010vjp.2	+	12	2671	c.2485C>T	c.(2485-2487)Cct>Tct	p.P829S	FAM65A_uc010cei.2_Missense_Mutation_p.P651S|FAM65A_uc002eth.3_Missense_Mutation_p.P809S|FAM65A_uc010cej.3_Missense_Mutation_p.P813S|FAM65A_uc002eti.2_Missense_Mutation_p.P772S|FAM65A_uc010vjq.2_Missense_Mutation_p.P823S|FAM65A_uc002etj.1_Missense_Mutation_p.P808S|FAM65A_uc002etk.3_Missense_Mutation_p.P808S	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	813						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TGGCCAGTTTCCTGAGCTGCA	0.672000														9			8		0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36202572	36202572	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:36202572G>A	uc001bzi.3	-	23	3932	c.3852C>T	c.(3850-3852)gtC>gtT	p.V1284V	CLSPN_uc009vux.3_Silent_p.V1220V	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	1284					DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	DNA binding|anaphase-promoting complex binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGTATGAAAGACAAAGTTTC	0.468000														93			49		0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111872536	111872536	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:111872536C>T	uc001kyu.3	+	3	352	c.196_splice	c.e3-1	p.A66_splice	ADD3_uc001kyt.4_Splice_Site_p.A66_splice|ADD3_uc001kys.4_Splice_Site_p.A66_splice|ADD3_uc001kyv.3_Splice_Site_p.A66_splice|ADD3_uc001kyw.3_Splice_Site_p.A66_splice	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA.	66						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GTATTACAGGCCTTTCGGGAA	0.403000														92			33		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3655083	3655083	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3655083C>T	uc002fwo.4	-	14	1853	c.1754G>A	c.(1753-1755)gGg>gAg	p.G585E		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	585					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACTGAGATCCCCCATAGCCGC	0.557000														50			25		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531893	50531893	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50531893G>A	uc021pqb.1	+	0	1303	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	C10orf71_uc021pqa.1_Missense_Mutation_p.E434K|C10orf71_uc021pqc.1_Missense_Mutation_p.E435K	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	435										endometrium(1)	1						GGAACCCAATGAACATTATGA	0.512000														87			27		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104642755	104642755	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:104642755C>T	uc001yos.4	+	11	3630	c.3630C>T	c.(3628-3630)ctC>ctT	p.L1210L		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	1210					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ACTCCAGCCTCCCCCGGAAAC	0.721000														13			9		0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30371579	30371579	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30371579C>A	uc002wwp.1	+	11	1966	c.1268C>A	c.(1267-1269)cCt>cAt	p.P423H	TPX2_uc010gdv.1_Missense_Mutation_p.P459H	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	423					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AAGAAACCACCTGTGAAACCA	0.408000														106			41		7.63091e-17	7.66984e-17	1	1	0
COL21A1	81578	broad.mit.edu	37	6	55929392	55929392	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55929392C>T	uc003pcs.3	-	23	2388	c.2156G>A	c.(2155-2157)gGa>gAa	p.G719E	COL21A1_uc010jzz.3_Missense_Mutation_p.G104E|COL21A1_uc011dxg.2_Missense_Mutation_p.G92E|COL21A1_uc011dxh.2_Missense_Mutation_p.G104E|COL21A1_uc003pcr.3_Missense_Mutation_p.E77K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	719	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCCTGGAATTCCCTGTCTTCC	0.323000														11			4		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52000654	52000654	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52000654C>T	uc002pwx.1	-	5	1507	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E	SIGLEC12_uc002pww.1_Missense_Mutation_p.G366E|SIGLEC12_uc010eoy.1_Missense_Mutation_p.G211E	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	484					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGCTCCAGCTCCCCCGAATGC	0.567000														100			37		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175063304	175063304	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175063304G>A	uc001gkl.1	+	6	1616	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	TNN_uc010pmx.1_Silent_p.L501L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	501	Fibronectin type-III 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.G500D(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACGGGCCTGAAGCCAGGAG	0.547000														34			18		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503381	140503381	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140503381C>T	uc003lip.1	+	0	1801	c.1801C>T	c.(1801-1803)Ctg>Ttg	p.L601L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	601	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAACGCCTGGCTGTCGTACCA	0.731000														89			39		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83764144	83764144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:83764144G>A	uc003uhz.3	-	1	551	c.236C>T	c.(235-237)tCa>tTa	p.S79L		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	79	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CAGGTCGAATGAAAATATGTG	0.358000														63			22		0	0	1	0	0
GPR183	1880	broad.mit.edu	37	13	99948140	99948140	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:99948140C>T	uc001vog.3	-	1	434	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR183_uc021rma.1_Missense_Mutation_p.R87Q	NM_004951	NP_004942	P32249	GP183_HUMAN	Homo sapiens G protein-coupled receptor 183 (GPR183), mRNA.	87					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						GTAGGCTATTCGTGTAGGCAA	0.408000														81			40		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154624622	154624622	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:154624622G>A	uc003inq.3	+	2	782	c.563G>A	c.(562-564)aGc>aAc	p.S188N	TLR2_uc003inr.3_Missense_Mutation_p.S188N|TLR2_uc003ins.3_Missense_Mutation_p.S188N|TLR2_uc021xtl.1_Missense_Mutation_p.S188N	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	188					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GATCTACAGAGCTATGAGCCA	0.368000														48			38		0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124267101	124267101	+	Silent	SNP	G	A	A	rs140121900	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124267101G>A	uc010saj.2	-	0	147	c.147C>T	c.(145-147)ttC>ttT	p.F49F	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		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;0.0277)		AATTTAGACCGAAAAGAATGA	0.418000														92			69		0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58125397	58125397	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:58125397C>T	uc001spq.3	-	8	1982	c.1982G>A	c.(1981-1983)cGa>cAa	p.R661Q	AGAP2_uc001spp.3_Missense_Mutation_p.R661Q|AGAP2_uc001spr.3_Missense_Mutation_p.R325Q	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	661					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.R325Q(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ATCCAAGCTTCGTTTCTCGGA	0.532000														59			6		0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431918	56431918	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56431918G>A	uc010rjm.2	+	0	757	c.757G>A	c.(757-759)Ggc>Agc	p.G253S	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CCTCTTCTATGGCACAGTCAT	0.498000														104			8		0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570362	248570362	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248570362G>A	uc010pzm.2	+	0	1067	c.1067G>A	c.(1066-1068)gGg>gAg	p.G356E		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	356					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			AGGGCCTTGGGGAGGTTCAAG	0.522000														134			40		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30307468	30307468	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:30307468G>A	uc002ymr.2	-	26	4989	c.4976C>T	c.(4975-4977)tCt>tTt	p.S1659F		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	1613							ligase activity|zinc ion binding	p.L1658L(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TGTTTGTACAGAAGATATTTC	0.343000														62			26		0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6719205	6719205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:6719205C>T	uc002gdt.3	-	3	543	c.433G>A	c.(433-435)Ggc>Agc	p.G145S	TEKT1_uc010vth.2_5'UTR	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	145					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GCCATAATGCCCTGGATGATC	0.557000														35			26		0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21687424	21687424	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:21687424C>T	uc002wsj.2	+	1	689	c.635C>T	c.(634-636)cCt>cTt	p.P212L	PAX1_uc010zsl.2_Missense_Mutation_p.P212L|PAX1_uc010zsm.2_Missense_Mutation_p.P188L	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	212	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TACAATGTGCCTTCGGTGAGC	0.632000														72			45		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123481976	123481976	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:123481976G>A	uc001uej.1	-	9	1567	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F	PITPNM2_uc001uek.1_Silent_p.F456F	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	456					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGACGGTGTCGAACACGTTGG	0.672000														86			33		0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19575479	19575479	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:19575479C>T	uc003cbk.1	+	15	3407	c.3212C>T	c.(3211-3213)tCt>tTt	p.S1071F	KCNH8_uc010hex.1_Missense_Mutation_p.S532F	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	1071						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTACCAGGATCTTGGAACCAG	0.473000														50			19		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955590	18955590	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:18955590C>T	uc001mpg.3	-	0	960	c.742G>A	c.(742-744)Gtc>Atc	p.V248I		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	248					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAAATAAGACTTCCCTGTCC	0.473000														40			17		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169696913	169696913	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169696913C>T	uc001ggm.4	-	8	1592	c.1435G>A	c.(1435-1437)Gga>Aga	p.G479R	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	479	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GTCCATTGTCCCTGAGATGTG	0.428000														118			30		0	0	1	0	0
LOC643733	643733	broad.mit.edu	37	11	104779646	104779646	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:104779646C>T	uc021qpn.1	-	1		c.153G>A			LOC643733_uc021qpo.1_Non-coding_Transcript|LOC643733_uc001phz.3_Non-coding_Transcript					Homo sapiens caspase 4, apoptosis-related cysteine peptidase pseudogene (LOC643733), transcript variant 1, non-coding RNA.																		CAAAGTCAGCCCCATTTCTTG	0.478000														52			14		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882050	228882050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228882050G>A	uc002vpq.2	-	6	3567	c.3520C>T	c.(3520-3522)Ctc>Ttc	p.L1174F	SPHKAP_uc002vpp.2_Missense_Mutation_p.L1174F|SPHKAP_uc010zlx.1_Missense_Mutation_p.L1174F	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1174						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCACACTGAGGTGGTCACTT	0.527000														72			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056223	9056223	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9056223C>T	uc002mkp.3	-	2	31427	c.31223G>A	c.(31222-31224)gGa>gAa	p.G10408E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10410	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						TGTCACTGTTCCCAGCTCAAC	0.478000														182			65		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822140	43822140	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:43822140C>T	uc010skx.2	-	25	3849	c.3849G>A	c.(3847-3849)acG>acA	p.T1283T	ADAMTS20_uc001rno.1_Silent_p.T401T|ADAMTS20_uc001rnp.1_Silent_p.T437T	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1283						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)		ATGGCAAATTCGTGCTTAGAT	0.483000														50			14		0	0	1	0	0
CFC1B	653275	broad.mit.edu	37	2	131356248	131356248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:131356248C>T	uc002tro.1	-	2	605	c.214G>A	c.(214-216)Gag>Aag	p.E72K		NM_001079530	NP_115934	P0CG36	CFC1B_HUMAN	Homo sapiens cripto, FRL-1, cryptic family 1B (CFC1B), mRNA.	72					gastrulation	extracellular region						Colorectal(110;0.1)					GGGAGCGGCTCCTCCGGCCCC	0.627000														135			20		0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53856349	53856349	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53856349C>T	uc001sdl.4	+	7	939	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	PCBP2_uc001sde.4_Nonsense_Mutation_p.Q193*|PCBP2_uc001sdi.4_Nonsense_Mutation_p.Q197*|PCBP2_uc001sdd.4_Nonsense_Mutation_p.Q193*|PCBP2_uc001sdf.4_Nonsense_Mutation_p.Q193*|PCBP2_uc001sdc.4_Nonsense_Mutation_p.Q197*|PCBP2_uc001sdb.4_Nonsense_Mutation_p.Q193*|PCBP2_uc010soi.2_5'UTR|PCBP2_uc010soj.2_5'UTR|PCBP2_uc001sdk.4_5'UTR|PCBP2_uc010soh.1_Nonsense_Mutation_p.Q193*	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA.	197					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TGCAGGTGGTCAGGTAAGAAA	0.512000														57			11		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108382640	108382640	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:108382640G>A	uc001pkk.3	-	5	3705	c.3594C>T	c.(3592-3594)tcC>tcT	p.S1198S	EXPH5_uc010rvz.2_Silent_p.S1042S|EXPH5_uc010rvy.2_Silent_p.S1010S	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1198					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CACTTCTCCTGGAGGCAGCCA	0.378000														139			59		0	0	1	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114450762	114450762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:114450762C>T	uc001eeg.3	+	2	781	c.487C>T	c.(487-489)Cac>Tac	p.H163Y	DCLRE1B_uc001eeh.3_Missense_Mutation_p.H37Y|DCLRE1B_uc001eei.3_Missense_Mutation_p.H37Y	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	163					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAAGCTGCCCACCAGATTGT	0.463000								Other identified genes with known or suspected DNA repair function						102			33		0	0	1	0	0
GFI1B	8328	broad.mit.edu	37	9	135866329	135866329	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135866329C>T	uc004ccg.3	+	6	1240	c.885C>T	c.(883-885)agC>agT	p.S295S	GFI1B_uc010mzy.3_Silent_p.S249S	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	295	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TCACCCACAGCCGCAAGCACA	0.632000														52			13		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170139474	170139474	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170139474C>T	uc002ues.3	-	9	1293	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	LRP2_uc010zdf.1_Silent_p.Q360Q	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	360	EGF-like 2.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.Q360K(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTCACACTTCTGGTCACAAA	0.433000														152			64		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751521	140751521	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140751521C>T	uc003ljw.2	+	0	1560	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.F520F|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	522	Cadherin 5.				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)			AGCGAGCCTTCGACCACGAGC	0.682000														70			8		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151171418	151171418	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151171418G>A	uc011bod.2	-	2	469	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	157					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGTGCACCAGGCGGAGAAAG	0.413000														85			34		0	0	1	0	0
KDM4D	55693	broad.mit.edu	37	11	94731667	94731667	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:94731667C>T	uc021qow.1	+	0	1131	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L	KDM4D_uc001pfe.3_Silent_p.L377L	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	377					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			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGAGACAACTCCCTTCCCACT	0.632000														44			6		0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183895291	183895291	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:183895291G>A	uc001gqm.3	+	18	2738	c.2277G>A	c.(2275-2277)gtG>gtA	p.V759V	RGL1_uc010pog.2_Silent_p.V722V|RGL1_uc010poh.2_Silent_p.V722V|RGL1_uc001gqo.3_Silent_p.V724V|RGL1_uc010poi.2_Silent_p.V695V	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	724					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						ACAGCCAAGTGAACTTTGACT	0.453000														124			45		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108455370	108455370	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:108455370G>A	uc010ywk.2	+	3	437	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	RGPD4_uc002tdu.3_5'UTR	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	119					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATACTGGGTGGAAAGAGCAGC	0.343000														237			110		0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44584634	44584634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:44584634C>T	uc002lco.3	+	3	339	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S	KATNAL2_uc010dnq.1_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	121	LisH.					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TCAAAATCTTCCCAAGATCAA	0.458000														71			32		0	0	1	0	0
AQP6	363	broad.mit.edu	37	12	50367226	50367226	+	Silent	SNP	C	T	T	rs143481476		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:50367226C>T	uc001rvr.1	+	0	963	c.270C>T	c.(268-270)ctC>ctT	p.L90L	AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_Non-coding_Transcript	NM_001652	NP_001643	Q13520	AQP6_HUMAN	Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA.	90					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						TGGCCTTCCTCGTAGGCTCCC	0.667000														52			22		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77748454	77748454	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:77748454G>A	uc021rks.1	-	36	5910	c.5643C>T	c.(5641-5643)ctC>ctT	p.L1881L	MYCBP2_uc010aev.3_Silent_p.L1247L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	1843			A -> S (in dbSNP:rs35887505).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.R1880Q(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCTATAGTAGAGTATCTGTG	0.433000														83			20		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232561550	232561550	+	Missense_Mutation	SNP	G	A	A	rs150962063		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:232561550G>A	uc001hvg.3	-	15	4573	c.4415C>T	c.(4414-4416)tCg>tTg	p.S1472L	SIPA1L2_uc001hvf.3_Missense_Mutation_p.S546L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1472					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.S1472L(2)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCCATAGAACGAAAACTAGGG	0.507000														26			7		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123022953	123022953	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:123022953G>A	uc003egh.2	-	12	2520	c.2520C>T	c.(2518-2520)ttC>ttT	p.F840F	ADCY5_uc021xdd.1_Silent_p.F490F|ADCY5_uc003egg.2_Silent_p.F473F|ADCY5_uc003egi.1_Silent_p.F399F	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	840					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGGTGATGGTGAACACCCCAA	0.617000														54			15		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36893237	36893237	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36893237G>A	uc003cgj.3	-	13	4976	c.4728C>T	c.(4726-4728)ctC>ctT	p.L1576L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1576					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTTGTAAAGGAGGACATCAT	0.383000														24			6		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902233	51902233	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:51902233G>A	uc002iua.2	+	0	1995	c.1839G>A	c.(1837-1839)ggG>ggA	p.G613G	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	613					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.G613W(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAATTTCAGGGAAGGGATCTA	0.423000														95			25		0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44387268	44387268	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:44387268T>A	uc003oxl.3	+	8	1485	c.1175T>A	c.(1174-1176)tTc>tAc	p.F392Y		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	392	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGAGTGACTTCTCAGGTGTA	0.428000														95			36		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73169046	73169046	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:73169046G>A	uc010izf.3	+	21	2965	c.2789G>A	c.(2788-2790)cGa>cAa	p.R930Q	RGNEF_uc011csq.2_Missense_Mutation_p.R930Q|RGNEF_uc021yam.1_Missense_Mutation_p.R930Q|RGNEF_uc011csr.2_Missense_Mutation_p.R617Q	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	930	DH.				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		GTGATCGACCGAATTGGAGAT	0.413000														18			6		0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51507373	51507373	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51507373G>A	uc001zyz.4	-	8	1166	c.915C>T	c.(913-915)atC>atT	p.I305I	CYP19A1_uc001zza.4_Silent_p.I305I|CYP19A1_uc001zzb.2_Silent_p.I305I	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	305					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CAGGAGCTGCGATCAGCATTT	0.403000														78			20		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410237	105410237	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105410237G>A	uc010axc.1	-	6	11671	c.11551C>T	c.(11551-11553)Ctc>Ttc	p.L3851F	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L3751F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3851						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGAATGCTGAGGTCAGTGGTC	0.632000														180			84		0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76990361	76990361	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:76990361G>A	uc001oyf.3	-	2	388	c.137C>T	c.(136-138)tCa>tTa	p.S46L		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	46					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	p.S46S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CAACAGCAATGAAGAGTAGGC	0.428000														36			14		0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218940349	218940349	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:218940349G>A	uc010fvl.2	+	8	1652	c.1134G>A	c.(1132-1134)caG>caA	p.Q378Q	RUFY4_uc002vgw.3_Silent_p.Q205Q	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	378							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGGTCCTTCAGGGACACGCAA	0.617000														38			23		0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45867734	45867734	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45867734G>A	uc002pbj.2	-	7	713	c.666C>T	c.(664-666)tcC>tcT	p.S222S	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Silent_p.S144S|ERCC2_uc002pbk.2_Silent_p.S198S|ERCC2_uc002pbl.4_Silent_p.S198S|ERCC2_uc010xxj.1_Intron	NM_000400	NP_000391	P18074	ERCC2_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.	222	Helicase ATP-binding.				UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	MMXD complex|cytoplasm|holo TFIIH complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCAGTTCCTTGGACACCAGGT	0.627000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					33			7		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519973	113519973	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:113519973C>T	uc010ljy.1	-	3	1205	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	392					glycogen metabolic process	integral to membrane		p.E392K(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAATATTTTTCATTGCAGTAA	0.398000														147			66		0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54362336	54362336	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:54362336C>T	uc003hag.4	-	5	1460	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.D306N|LNX1_uc003hah.4_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	402	PDZ 2.					cytoplasm	zinc ion binding			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)			CCAGGCTCATCCACCTTGCGC	0.522000														171			14		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516898	157516898	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157516898G>A	uc009wsm.3	-	2	300	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	FCRL5_uc001fqu.3_Missense_Mutation_p.R48C|FCRL5_uc010phv.1_Missense_Mutation_p.R48C|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Missense_Mutation_p.R48C|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	48	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.R48C(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGTAGAAGCGAAATCCCTTG	0.478000														96			35		0	0	1	0	0
PDK4	5166	broad.mit.edu	37	7	95221348	95221348	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:95221348C>T	uc003uoa.3	-	5	966	c.646G>A	c.(646-648)Gat>Aat	p.D216N	PDK4_uc003unz.3_Missense_Mutation_p.D4N	NM_002612	NP_002603	Q16654	PDK4_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA.	216	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TAATACTGATCACAGAGCATC	0.313000														134			59		0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74673193	74673193	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:74673193C>T	uc001jte.1	+	5	1136	c.918C>T	c.(916-918)ctC>ctT	p.L306L	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	306	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TCAACATCCTCTTCTCTCTCA	0.552000														71			35		0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111644	64111644	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64111644C>T	uc001nzy.3	+	13	1680	c.1631C>T	c.(1630-1632)tCa>tTa	p.S544L	CCDC88B_uc009ypo.2_Missense_Mutation_p.S541L|CCDC88B_uc001nzz.1_Missense_Mutation_p.S193L	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	544					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCGAGGCATCAGCTGAGTGT	0.632000														101			42		0	0	1	0	0
DPPA5	340168	broad.mit.edu	37	6	74063623	74063623	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:74063623C>T	uc003pgs.2	-	1	296	c.245G>A	c.(244-246)tGg>tAg	p.W82*		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	Homo sapiens developmental pluripotency associated 5 (DPPA5), mRNA.	82	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						CTGGAGCATCCACTTGGTCCG	0.627000														31			7		0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71388496	71388496	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71388496C>T	uc003hfk.1	+	2	168	c.79C>T	c.(79-81)Cct>Tct	p.P27S	AMTN_uc010ihy.1_Missense_Mutation_p.P26S	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Homo sapiens amelotin (AMTN), mRNA.	27					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TTTGGGACTCCCTCCCACAAA	0.423000														237			70		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8492966	8492966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:8492966G>A	uc003zkk.3	-	26	3106	c.2363C>T	c.(2362-2364)tCt>tTt	p.S788F	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	788	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGGAGCCCAGAAATGATCAT	0.493000										TSP Lung(15;0.13)				77			8		0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84800711	84800711	+	Splice_Site	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:84800711G>C	uc010fgb.3	+	12	2061	c.1924_splice	c.e12+1	p.D642_splice	DNAH6_uc002soo.3_Splice_Site_p.D221_splice|DNAH6_uc002sop.3_Splice_Site_p.D221_splice	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	642	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TCAGGAACCTGGTAACTTGTC	0.363000														106			40		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31299723	31299723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:31299723C>T	uc003jhe.2	+	4	1156	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S	CDH6_uc003jhd.2_Missense_Mutation_p.P266S	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	266	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGACAACCCTCCCCGATTCCC	0.428000														81			25		0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42875928	42875928	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:42875928C>T	uc001uys.2	+	7	3221	c.3046C>T	c.(3046-3048)Cat>Tat	p.H1016Y		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	1016					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTCTATGGTTCATGGATCCTC	0.423000														84			23		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752561	247752561	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247752561G>A	uc010pyy.2	+	0	900	c.900G>A	c.(898-900)gtG>gtA	p.V300V		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCAAGGAGGTGAAAGGGGCAT	0.368000														152			52		0	0	1	0	0
BCL7A	605	broad.mit.edu	37	12	122481924	122481924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:122481924C>T	uc001ubo.3	+	3	541	c.404C>T	c.(403-405)gCc>gTc	p.A135V	BCL7A_uc001ubp.3_Missense_Mutation_p.A135V	NM_020993	NP_066273	Q4VC05	BCL7A_HUMAN	Homo sapiens B-cell CLL/lymphoma 7A (BCL7A), transcript variant 1, mRNA.	135					negative regulation of transcription, DNA-dependent					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GTGGATGAGGCCCAGGCTGAT	0.652000			T	MYC	BNHL									70			8		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2967781	2967781	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2967781C>T	uc022aqr.1	-	42	6897	c.6507G>A	c.(6505-6507)ctG>ctA	p.L2169L	CSMD1_uc011kwj.2_Silent_p.L1562L|CSMD1_uc010lrg.3_Silent_p.L238L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2170	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCAGTCCTTCAGGATCGGAT	0.493000														29			4		0	0	1	0	0
TBX21	30009	broad.mit.edu	37	17	45820503	45820503	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:45820503C>T	uc002ilv.1	+	2	924	c.713C>T	c.(712-714)tCa>tTa	p.S238L		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	Homo sapiens T-box 21 (TBX21), mRNA.	238					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGGAAGTTTCATTTGGGAAA	0.572000														44			23		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43788174	43788174	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:43788174C>T	uc001uza.4	-	16	2184	c.1884G>A	c.(1882-1884)ctG>ctA	p.L628L	ENOX1_uc001uzc.4_Silent_p.L628L|ENOX1_uc001uzb.4_Silent_p.L628L	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	628					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.T627M(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		ATCTTTTTTCCAGCGTGGCTC	0.448000														88			28		0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96789971	96789971	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:96789971G>A	uc010yui.2	-	8	914	c.914C>T	c.(913-915)gCc>gTc	p.A305V		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	305					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						AGATAGGGAGGCCGGAGCGGG	0.637000														27			11		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157475585	157475585	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:157475585G>A	uc003wno.3	-	12	1954	c.1833C>T	c.(1831-1833)gaC>gaT	p.D611D	PTPRN2_uc003wnp.3_Silent_p.D594D|PTPRN2_uc003wnq.3_Silent_p.D582D|PTPRN2_uc003wnr.3_Silent_p.D573D|PTPRN2_uc011kwa.2_Silent_p.D634D	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	611						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACTTGGTGGAGTCTTCTTGCT	0.572000														33			18		0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18844988	18844988	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:18844988C>T	uc002zoe.3	+	3		c.2242C>T			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GCAGCGGCCTCCTTGAAGATC	0.572000														38			9		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877584	24877584	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24877584C>T	uc001wpf.4	+	2	1026	c.708C>T	c.(706-708)tcC>tcT	p.S236S		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	236					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCATGGTGTCCGTGGGAGAGA	0.597000														98			24		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468807	10468807	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10468807G>A	uc003wtc.3	-	3	3030	c.2801C>T	c.(2800-2802)cCc>cTc	p.P934L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	934					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)		CTGCCCCTGGGGGCCTCCCCC	0.657000														39			15		0	0	1	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938431	116938431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:116938431G>A	uc003pxe.2	+	0	790	c.645G>A	c.(643-645)aaG>aaA	p.K215K	RSPH4A_uc010kee.2_Silent_p.K215K	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	215					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGAATGCTAAGGCTTACCTGC	0.483000									Kartagener syndrome					82			20		0	0	1	0	0
GZMB	3002	broad.mit.edu	37	14	25101071	25101071	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:25101071G>A	uc001wps.2	-	3	659	c.593C>T	c.(592-594)tCc>tTc	p.S198F	GZMB_uc010ama.2_Missense_Mutation_p.S186F|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.	198	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)		TACCTTAAAGGAAGTCTTTTT	0.473000														98			33		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56538970	56538970	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56538970G>A	uc002qmj.3	+	6	1371	c.1371G>A	c.(1369-1371)gcG>gcA	p.A457A	NLRP5_uc002qmi.3_Silent_p.A438A	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	457	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGTTGCGTGCGATCATGAACA	0.597000														27			9		0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137727469	137727469	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:137727469C>T	uc003lcy.1	+	7	2348	c.2148C>T	c.(2146-2148)agC>agT	p.S716S	KDM3B_uc010jew.1_Silent_p.S372S|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	716	Ser-rich.				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						GGGGCCCAAGCCTCTCTGCCA	0.572000														73			27		0	0	1	0	0
CD300LF	146722	broad.mit.edu	37	17	72691309	72691309	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72691309C>T	uc002jlg.3	-	6	902	c.799G>A	c.(799-801)Ggc>Agc	p.G267S	RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|CD300LF_uc002jlf.3_Missense_Mutation_p.G270S|CD300LF_uc010dfw.3_Non-coding_Transcript|CD300LF_uc002jlh.3_3'UTR|CD300LF_uc002jli.3_3'UTR|CD300LF_uc010wra.2_Missense_Mutation_p.G282S	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	Homo sapiens CD300 molecule-like family member f (CD300LF), mRNA.	267						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CTGAGGTGGCCCATGTTGCAG	0.607000														51			23		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41615664	41615665	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:41615664_41615665GG>AA	uc003gvz.4	+	4	608_609	c.191_192GG>AA	c.(190-192)agg>aAA	p.R64K	LIMCH1_uc003gvt.1_Missense_Mutation_p.R64K|LIMCH1_uc003gwe.4_Missense_Mutation_p.R223K|LIMCH1_uc003gvu.4_Missense_Mutation_p.R223K|LIMCH1_uc003gvv.4_Missense_Mutation_p.R223K|LIMCH1_uc003gvw.4_Missense_Mutation_p.R223K|LIMCH1_uc003gvx.4_Missense_Mutation_p.R223K|LIMCH1_uc003gvy.4_Missense_Mutation_p.R64K|LIMCH1_uc003gwa.4_Missense_Mutation_p.R64K|LIMCH1_uc011byu.2_Missense_Mutation_p.R69K|LIMCH1_uc003gwc.4_Missense_Mutation_p.R69K|LIMCH1_uc003gwd.4_Missense_Mutation_p.R69K|LIMCH1_uc011byv.2_5'UTR|LIMCH1_uc003gwb.1_Missense_Mutation_p.R71K	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	223	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTAGTCCTCAGGGGAAGCAGCG	0.545000														64			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466465	179466465	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179466465C>T	uc021vsy.1	-	234	47873	c.47648G>A	c.(47647-47649)cGa>cAa	p.R15883Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R9578Q|TTN_uc021vta.1_Missense_Mutation_p.R9511Q|TTN_uc021vtb.1_Missense_Mutation_p.R9386Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16810	Fibronectin type-III 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)			TGTATGAGATCGTTTACACTC	0.363000														80			23		0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103498964	103498964	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:103498964C>T	uc004ely.3	-	1	446	c.377G>A	c.(376-378)gGg>gAg	p.G126E		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	126					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GGTTTGTGGCCCCTCCGCCGG	0.662000														41			8		0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3458126	3458126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3458126C>T	uc002fvr.2	-	1	341	c.19G>A	c.(19-21)Gag>Aag	p.E7K	TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.E7K|TRPV3_uc010vrj.1_5'UTR|TRPV3_uc002fvu.3_Missense_Mutation_p.E7K	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	7						integral to membrane	calcium channel activity	p.E7D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGCACCATCTCCTTGGGGTGG	0.622000														24			13		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45152068	45152068	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:45152068C>T	uc003com.3	-	3	1056	c.921G>A	c.(919-921)ggG>ggA	p.G307G	CDCP1_uc003con.3_Silent_p.G307G	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	307						extracellular region|integral to membrane|plasma membrane		p.A306T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GGTTGAAGTTCCCCGCCATGT	0.552000														109			41		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109365066	109365066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:109365066C>T	uc010agk.2	+	2	972	c.350C>T	c.(349-351)tCc>tTc	p.S117F	MYO16_uc001vqt.1_Missense_Mutation_p.S95F	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	95					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCGGGAGGGTCCCTGCTCCAT	0.562000														95			36		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088013	86088013	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:86088013G>A	uc021rxf.1	+	0	155	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	FLRT2_uc001xvr.3_Missense_Mutation_p.R52Q|FLRT2_uc010atd.3_Missense_Mutation_p.R52Q	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	52	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGTAATGAGCGAAGCTTGACC	0.517000														103			45		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450703	55450703	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55450703C>T	uc002qih.4	-	3	1560	c.1484G>A	c.(1483-1485)tGg>tAg	p.W495*	NLRP7_uc010esk.3_Nonsense_Mutation_p.W495*|NLRP7_uc002qig.4_Nonsense_Mutation_p.W495*|NLRP7_uc002qii.4_Nonsense_Mutation_p.W495*|NLRP7_uc010esl.3_Nonsense_Mutation_p.W523*	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	495							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCCGATGTCCCAGGCGTGGCC	0.572000														96			7		0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72848173	72848173	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72848173G>A	uc002jlt.1	-	2	1133	c.977C>T	c.(976-978)cCt>cTt	p.P326L	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.P326L|GRIN2C_uc002jlv.1_3'UTR	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	326					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CTCCCGGGCAGGGCTGACGGG	0.716000														15			5		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1496876	1496876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:1496876G>A	uc003wpl.3	+	1	114	c.17G>A	c.(16-18)gGa>gAa	p.G6E	DLGAP2_uc003wpm.3_Missense_Mutation_p.G6E	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	85					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGCCTTTCCGGAAGTCGGACC	0.692000														14			4		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49736512	49736512	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49736512C>T	uc003cxh.3	+	9	824	c.738C>T	c.(736-738)gcC>gcT	p.A246A	RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.3_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	246	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		AGTCCGTGGCCTTCAACTTTG	0.582000														97			29		0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11400787	11400787	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:11400787G>A	uc003wty.3	+	1	635	c.54G>A	c.(52-54)aaG>aaA	p.K18K		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	18					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCAAAGAGAAGGACAAGGGCC	0.607000														59			18		0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4827821	4827821	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:4827821C>T	uc002cxq.3	-	9	1318	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	SEPT12_uc002cxr.3_Missense_Mutation_p.D306N|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	352					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TCAGAATCGTCATGGGCCCCC	0.672000														4			3		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115391684	115391684	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115391684C>A	uc001lal.3	-	16	1836	c.1672G>T	c.(1672-1674)Gga>Tga	p.G558*	NRAP_uc009xyb.3_5'Flank|NRAP_uc001laj.3_Nonsense_Mutation_p.G558*|NRAP_uc001lak.3_Nonsense_Mutation_p.G523*	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	558						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATCTCAAATCCTTTCCCCTTT	0.463000														147			48		1.46156e-29	1.47063e-29	1	1	0
TMEM108	66000	broad.mit.edu	37	3	133099974	133099974	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:133099974C>T	uc003epi.3	+	3	1689	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	TMEM108_uc003eph.3_Silent_p.I473I|TMEM108_uc003epj.1_Silent_p.I473I|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	473						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCTGGGTGATCCTGGCCATCA	0.602000														66			12		0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32745514	32745514	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32745514G>A	uc001bux.3	+	10	1252	c.1114G>A	c.(1114-1116)Gtg>Atg	p.V372M	LCK_uc001buy.3_Missense_Mutation_p.V372M|LCK_uc001buz.3_Missense_Mutation_p.V402M|LCK_uc010ohc.1_Missense_Mutation_p.V416M|LCK_uc001bva.3_Missense_Mutation_p.V379M	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	372	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CAACATTCTGGTGTCTGACAC	0.517000			T	TRB@	T-ALL									79			42		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112018759	112018759	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:112018759C>T	uc004bdz.1	-	8	1048	c.753_splice	c.e8-1	p.R251_splice	EPB41L4B_uc004bea.3_Splice_Site_p.R251_splice	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	251	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGCTCTTTCCCCTTAGAAAA	0.473000														76			18		0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105173304	105173304	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105173304C>T	uc001ypb.2	+	6	1044	c.901C>T	c.(901-903)Ctg>Ttg	p.L301L	INF2_uc001ypc.2_Silent_p.L301L|INF2_uc010awz.1_5'Flank	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	301	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCTCCTGCACCTGGAGCCCAC	0.726000														17			7		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284411	52284411	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52284411C>T	uc001rzd.3	+	4	859	c.681C>T	c.(679-681)gcC>gcT	p.A227A	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Silent_p.A102A|ANKRD33_uc001rze.3_Silent_p.A123A|ANKRD33_uc001rzg.4_Silent_p.A29A|ANKRD33_uc001rzi.4_Silent_p.A102A	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	102								p.T226T(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GCAAGACGGCCCTGGAATGGG	0.622000														27			8		0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58430866	58430866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:58430866C>T	uc002aez.2	+	0	459	c.102C>T	c.(100-102)ttC>ttT	p.F34F	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Intron	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	34					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TGGGCACGTTCATCTTGATTG	0.453000														80			11		0	0	1	0	0
ADORA1	134	broad.mit.edu	37	1	203134472	203134472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203134472C>T	uc010pqh.1	+	2	561	c.524C>T	c.(523-525)cCt>cTt	p.P175L	ADORA1_uc001gzf.1_Missense_Mutation_p.P142L|ADORA1_uc001gze.1_Missense_Mutation_p.P142L|ADORA1_uc010pqg.1_Missense_Mutation_p.P74L|ADORA1_uc009xak.1_Silent_p.P67P	NM_001048230	NP_001041695	P30542	AA1R_HUMAN	Homo sapiens adenosine A1 receptor (ADORA1), transcript variant 2, mRNA.	142					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GGACTGACCCCTATGTTTGGC	0.647000														31			23		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174768	51174768	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:51174768C>T	uc021tif.1	-	1	1396	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	SALL1_uc021tid.1_Silent_p.A358A|SALL1_uc021tie.1_Silent_p.A455A|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	455					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAAAGACCTTCGCGCAGAACC	0.512000														82			44		0	0	1	0	0
FAM131A	131408	broad.mit.edu	37	3	184062315	184062315	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:184062315C>T	uc003foe.3	+	5	801	c.658C>T	c.(658-660)Ctc>Ttc	p.L220F	FAM131A_uc003foc.3_Missense_Mutation_p.L135F|FAM131A_uc003fog.3_Missense_Mutation_p.L189F	NM_144635	NP_001164564	Q6UXB0	F131A_HUMAN	Homo sapiens family with sequence similarity 131, member A (FAM131A), transcript variant 1, mRNA.	189						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGGCCGCACCTCCAGGACCT	0.632000														130			9		0	0	1	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74644533	74644533	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:74644533G>A	uc004ecg.3	-	7	1168	c.690C>T	c.(688-690)ctC>ctT	p.L230L	ZDHHC15_uc004ech.3_Silent_p.L221L|ZDHHC15_uc011mqo.1_Non-coding_Transcript	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	Homo sapiens zinc finger, DHHC-type containing 15 (ZDHHC15), transcript variant 1, mRNA.	230						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						GGTAACCAAAGAGAATCACAA	0.383000														12			15		0	0	1	0	0
REEP4	80346	broad.mit.edu	37	8	21996484	21996484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:21996484G>A	uc003xau.1	-	5	961	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S	REEP4_uc010ltt.1_Intron	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	Homo sapiens receptor accessory protein 4 (REEP4), mRNA.	170						integral to membrane				kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		AGGTAGAGGGGGTCATGGTAG	0.677000														21			8		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915162	176915162	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176915162C>T	uc001glc.3	-	12	2361	c.2149G>A	c.(2149-2151)Gag>Aag	p.E717K	ASTN1_uc001glb.1_Missense_Mutation_p.E717K|ASTN1_uc001gld.1_Missense_Mutation_p.E717K|ASTN1_uc009wwx.1_Missense_Mutation_p.E717K	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	725					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATGGGAAGCTCCCTGCTTTCC	0.532000														90			31		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370219	126370219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126370219C>T	uc003ifj.4	+	8	8048	c.8048C>T	c.(8047-8049)tCc>tTc	p.S2683F	FAT4_uc011cgp.2_Missense_Mutation_p.S981F|FAT4_uc003ifi.1_Missense_Mutation_p.S161F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2683	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S2683S(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAAAACCTTTCCCCTCGAAAA	0.353000														174			73		0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72004417	72004417	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:72004417G>A	uc001osj.3	-	16	2168	c.2118C>T	c.(2116-2118)acC>acT	p.T706T	CLPB_uc010rqx.2_Silent_p.T661T|CLPB_uc010rqy.2_Silent_p.T647T|CLPB_uc001osk.3_Silent_p.T676T|CLPB_uc010rqz.2_Silent_p.T505T|CLPB_uc001osi.3_Silent_p.T314T	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	706					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GCTGCTAGATGGTGTTGCACA	0.592000														35			23		0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35083487	35083487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:35083487G>A	uc001ziu.1	-	5	1061	c.818C>T	c.(817-819)tCt>tTt	p.S273F	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	273					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GATGCCAGCAGATTCCATACC	0.468000														79			19		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57252863	57252863	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57252863G>A	uc001cym.4	-	3	1344	c.938C>T	c.(937-939)tCc>tTc	p.S313F	C1orf168_uc009vzu.1_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	313										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TGGAGACAGGGAGCCCTCTTC	0.483000														66			39		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111969148	111969148	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111969148G>A	uc001eba.3	-	2	227	c.171C>T	c.(169-171)gcC>gcT	p.A57A	OVGP1_uc001eaz.3_5'UTR|OVGP1_uc010owb.2_5'UTR|OVGP1_uc010owc.1_Silent_p.A47A	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	57					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTGAGGCAAAGGCAAATATCA	0.483000														82			17		0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57843625	57843625	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57843625C>T	uc001snv.1	+	1	1006	c.879C>T	c.(877-879)tcC>tcT	p.S293S		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	293					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						TTGCTGCCTCCTTTCACACTG	0.602000														67			6		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640355	99640355	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:99640355C>T	uc001tge.2	-	12	2461	c.2044G>A	c.(2044-2046)Gaa>Aaa	p.E682K	ANKS1B_uc001tgf.2_Missense_Mutation_p.E262K|ANKS1B_uc001tgk.3_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.E648K	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	682						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GTATGGTTTTCGAGTTGGTTG	0.428000														28			4		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7457122	7457122	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7457122G>A	uc001qsx.1	+	0	195	c.195G>A	c.(193-195)aaG>aaA	p.K65K		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	65					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GGTCCCAAAAGGAGAAGGTAT	0.453000														55			8		0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47913525	47913525	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:47913525G>A	uc003csb.2	-	10	2914	c.2388C>T	c.(2386-2388)gcC>gcT	p.A796A	MAP4_uc003csc.3_Silent_p.A796A|MAP4_uc003crw.2_5'Flank|MAP4_uc003crx.2_Silent_p.A56A|MAP4_uc011bbe.1_Silent_p.A547A|MAP4_uc003csa.3_Silent_p.A531A|MAP4_uc003crz.4_Non-coding_Transcript|MAP4_uc003csd.2_Silent_p.A531A	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	796					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CAGATCTGGAGGCTGGGGCAG	0.577000														205			71		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274034	10274034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:10274034G>A	uc010uym.2	-	2	545	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	GRIN2A_uc002czo.4_Missense_Mutation_p.P79S|GRIN2A_uc002czr.4_Missense_Mutation_p.P79S|GRIN2A_uc010buk.3_Missense_Mutation_p.P79S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	79					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGCTCTTGGGGTCGGTGCGG	0.662000														109			26		0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3679786	3679786	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3679786G>A	uc001akv.2	+	6	1150	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	357	Glu-rich.									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)		GGGTGCCTGGGGAGGTGTGAG	0.672000														5			5		0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59829943	59829943	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59829943C>T	uc001nom.3	+	2	287	c.159C>T	c.(157-159)gcC>gcT	p.A53A	MS4A3_uc001non.3_Intron|MS4A3_uc001noo.3_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	53						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	p.G52E(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TCTTTCAGGCCATCCAGATCC	0.433000														88			36		0	0	1	0	0
C8orf86	389649	broad.mit.edu	37	8	38370017	38370017	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:38370017C>T	uc003xlx.1	-	2	585	c.560G>A	c.(559-561)gGa>gAa	p.G187E		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	Homo sapiens chromosome 8 open reading frame 86 (C8orf86), mRNA.	187								p.G187E(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						atgtgcatttccaatcagttc	0.532000														85			34		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475124	140475124	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140475124G>A	uc003lil.3	+	0	888	c.750G>A	c.(748-750)gaG>gaA	p.E250E	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	250	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCTATGAGGTGCAGATCC	0.522000														63			9		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28273976	28273976	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:28273976G>A	uc009xky.3	-	3	645	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.L183F	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	183							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GAATGATTGAGGAGGTGCAGA	0.373000														22			5		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46787167	46787167	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:46787167G>A	uc003bhw.1	-	15	6166	c.6166C>T	c.(6166-6168)Ccc>Tcc	p.P2056S	CELSR1_uc011arc.1_Missense_Mutation_p.P377S	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2056					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AATGCTTTGGGACAGCCATTG	0.617000											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			17		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255505	15255505	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15255505C>T	uc001iob.3	-	7	2089	c.2082G>A	c.(2080-2082)atG>atA	p.M694I		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	694						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCCCAAGCTCCATCAGGGCCT	0.582000														89			37		0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102509599	102509599	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:102509599C>T	uc003kod.4	+	20	2971	c.2452C>T	c.(2452-2454)Cgt>Tgt	p.R818C	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.R818C|PPIP5K2_uc003kof.3_Missense_Mutation_p.R119C	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	818					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACGTCATGTTCGTACTAGATT	0.333000														100			21		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26866495	26866495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:26866495G>A	uc001zbb.3	-	4	698	c.595C>T	c.(595-597)Ctt>Ttt	p.L199F	GABRB3_uc021sgg.1_Missense_Mutation_p.L72F|GABRB3_uc021sgh.1_Missense_Mutation_p.L58F|GABRB3_uc001zaz.3_Missense_Mutation_p.L143F|GABRB3_uc001zba.3_Missense_Mutation_p.L143F|GABRB3_uc001zbc.3_Non-coding_Transcript	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	143					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCAGGGTGAAGACGGATCATG	0.478000														105			34		0	0	1	0	0
ZC3H15	55854	broad.mit.edu	37	2	187370268	187370268	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:187370268C>T	uc002upo.3	+	6	1033	c.808C>T	c.(808-810)Ctt>Ttt	p.L270F	ZC3H15_uc021vts.1_5'Flank	NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA.	270						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			GATTGATAAACTTGAACAAGA	0.393000														60			11		0	0	1	0	0
FAM125B	89853	broad.mit.edu	37	9	129143376	129143376	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:129143376C>T	uc004bqh.2	+	2	324	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F	FAM125B_uc004bqg.2_Missense_Mutation_p.L80F|FAM125B_uc011lzy.2_Missense_Mutation_p.L65F|FAM125B_uc010mxd.3_Missense_Mutation_p.L73F|FAM125B_uc011lzz.1_Missense_Mutation_p.L73F	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	Homo sapiens family with sequence similarity 125, member B (FAM125B), transcript variant 1, mRNA.	80	MABP.				protein transport	late endosome membrane				kidney(1)|large_intestine(4)|lung(4)|urinary_tract(1)	10						GGATGCTGACCTCTGGAAAGA	0.463000														63			37		0	0	1	0	0
LOC646278	646278	broad.mit.edu	37	15	29083923	29083923	+	RNA	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:29083923A>C	uc021sgt.1	+	11		c.1515A>C			LOC646278_uc001zcj.3_Non-coding_Transcript					Homo sapiens programmed cell death 6 interacting protein pseudogene (LOC646278), non-coding RNA.																		ACCTGTATATAGGGCCAAGTC	0.418000														34			6		0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39228192	39228192	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39228192C>T	uc002ojd.1	-	8	1361	c.1052G>A	c.(1051-1053)gGg>gAg	p.G351E	CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'Flank	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	351	Domain III.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCAGCCGCCCCCCTCCGGGCT	0.692000														32			17		0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	818660	818660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:818660G>A	uc002cjw.2	+	16	1931	c.1820G>A	c.(1819-1821)gGg>gAg	p.G607E	MSLN_uc002cju.1_Missense_Mutation_p.G599E|MSLN_uc002cjt.1_Missense_Mutation_p.G599E|MSLN_uc010brd.1_Missense_Mutation_p.G598E|MSLN_uc002cjy.1_Silent_p.G291G|MIR662_uc021tac.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	607					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCCCTCTCGGGGACGCCCTGC	0.711000														50			10		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540727	55540727	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55540727C>T	uc003xsd.1	+	3	4433	c.4285C>T	c.(4285-4287)Cag>Tag	p.Q1429*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1429					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGGAAGTTTCAGGATGAAAA	0.368000														59			24		0	0	1	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41444953	41444953	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41444953C>T	uc010ehg.1	+	3	572	c.564C>T	c.(562-564)ttC>ttT	p.F188F	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Silent_p.F188F|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GAAAACGCTTCCACTACCAAG	0.507000														31			15		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143096028	143096028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143096028C>T	uc003wcz.3	-	5	1089	c.1002G>A	c.(1000-1002)tcG>tcA	p.S334S		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	334	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTCGGGGGGCCGAGGGGGGAC	0.632000														13			6		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467432	74467432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74467432C>T	uc002axg.1	+	1	515	c.233C>T	c.(232-234)tCg>tTg	p.S78L	ISLR_uc002axh.1_Missense_Mutation_p.S78L|ISLR_uc021sqf.1_Missense_Mutation_p.S78L	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	78					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CTGCTGCAGTCGCTGTGGCTG	0.647000														91			9		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319378	21319378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:21319378G>A	uc021tss.1	+	2	1094	c.724G>A	c.(724-726)Gag>Aag	p.E242K	KCNJ18_uc002gyv.1_Missense_Mutation_p.E242K|KCNJ18_uc021tst.1_Missense_Mutation_p.E242K	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	242						integral to membrane	inward rectifier potassium channel activity										CGAGGAGGGCGAGTACATCCC	0.607000														54			6		0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51697238	51697238	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:51697238C>T	uc011bdt.2	+	21	4331	c.4206C>T	c.(4204-4206)tcC>tcT	p.S1402S	RAD54L2_uc003dbh.3_Silent_p.S991S|RAD54L2_uc011bdu.2_Silent_p.S1096S|RAD54L2_uc003dbj.3_Silent_p.S728S	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	1402						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)		CTTTTCCTTCCCCTGTCTTGC	0.577000														114			8		0	0	1	0	0
SKA3	221150	broad.mit.edu	37	13	21732064	21732064	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:21732064G>A	uc001unt.3	-	6	1241	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	SKA3_uc001unu.3_Silent_p.L372L|SKA3_uc001unv.3_Silent_p.L290L	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	Homo sapiens spindle and kinetochore associated complex subunit 3 (SKA3), transcript variant 1, mRNA.	372					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AAATAACCTGGAGAATATCTT	0.313000														56			19		0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226570804	226570804	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:226570804G>A	uc001hqd.4	-	7	1263	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	364					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TGGCCGCCACGGAGGCGCTGG	0.512000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						280			85		0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47100963	47100963	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:47100963C>T	uc004dhp.3	+	8	1173	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	USP11_uc004dhq.3_Silent_p.S118S	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	391					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ATTTTGCATCCCAATTTCTGG	0.547000														30			59		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130855747	130855747	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:130855747C>T	uc001uik.3	+	19	2619	c.2348C>T	c.(2347-2349)gCt>gTt	p.A783V	PIWIL1_uc001uij.2_Missense_Mutation_p.A783V	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	783	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GTGAGCCAGGCTGTGAGAAGT	0.443000														112			63		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994727	140994727	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140994727C>T	uc004fbt.3	+	3	1861	c.1537C>T	c.(1537-1539)Cct>Tct	p.P513S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P172S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	513							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)					TCCCCAGTCTCCTCTCCAGAT	0.507000										HNSCC(15;0.026)				83			119		0	0	1	0	0
SHOX2	6474	broad.mit.edu	37	3	157817725	157817725	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:157817725C>T	uc003fbs.3	-	4	837	c.698G>A	c.(697-699)gGg>gAg	p.G233E	SHOX2_uc003fbr.3_Missense_Mutation_p.G209E|SHOX2_uc010hvw.3_Missense_Mutation_p.G209E	NM_003030	NP_003021	O60902	SHOX2_HUMAN	Homo sapiens short stature homeobox 2 (SHOX2), transcript variant 1, mRNA.	209					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCTGGCGGCCCCTATGAGAAC	0.438000														43			10		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967301	41967301	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:41967301G>A	uc010skn.2	+	9	2728	c.2720G>A	c.(2719-2721)cGa>cAa	p.R907Q	PDZRN4_uc001rmq.4_Missense_Mutation_p.R649Q|PDZRN4_uc009zjz.3_Missense_Mutation_p.R647Q|PDZRN4_uc001rmr.3_Missense_Mutation_p.R534Q	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	907							ubiquitin-protein ligase activity|zinc ion binding	p.R649Q(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGACCCGTGCGAGACCGAATC	0.517000														104			8		0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3682615	3682615	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:3682615G>A	uc001lye.1	+	3	959	c.858G>A	c.(856-858)aaG>aaA	p.K286K		NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	286					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGAAGTGCAAGTCTGGGCCTT	0.532000														57			26		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841825	70841825	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:70841825G>A	uc002ezr.3	-	85	15172	c.15021C>T	c.(15019-15021)ctC>ctT	p.L5007L	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	5008										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)				CTCCACCTGCGAGCGATGATA	0.587000														76			16		0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52962009	52962009	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52962009C>T	uc001sap.1	-	6	1347	c.1299G>A	c.(1297-1299)ctG>ctA	p.L433L		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	433	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGTCCAGGGCCAGTTTCAGGC	0.647000														76			35		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30495221	30495221	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30495221G>A	uc002dyi.4	+	7	972	c.796G>A	c.(796-798)Gag>Aag	p.E266K	ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Missense_Mutation_p.E183K|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	266	VWFA.				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CACGGATGGGGAGGCCACTGA	0.582000														185			28		0	0	1	0	0
AK302514	0	broad.mit.edu	37	6	66013274	66013274	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:66013274G>A	uc011dxv.2	+	1	1551	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	EYS_uc011dxu.1_Intron					SubName: Full=cDNA FLJ60373, highly similar to Zinc finger CCCH domain-containing protein11A;																		CTGGGGAAACGAAAATTTTCG	0.478000														34			22		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18729527	18729527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:18729527C>T	uc003wza.3	-	2	950	c.847G>A	c.(847-849)Gga>Aga	p.G283R		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	283					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CGATCACATCCCCCTGGGTGC	0.562000														108			7		0	0	1	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6521698	6521698	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6521698G>A	uc001anh.3	-	9	1165	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	TNFRSF25_uc001ana.3_Silent_p.F167F|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_Silent_p.F123F|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Silent_p.F350F|TNFRSF25_uc001anf.3_Silent_p.F313F|TNFRSF25_uc001ang.3_Silent_p.F305F	NM_148965	NP_683866	Q93038	TNR25_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.	350	Death.				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GCGTGCGCACGAACTCCTTCC	0.697000														21			7		0	0	1	0	0
C12orf68	387856	broad.mit.edu	37	12	48578415	48578415	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48578415G>A	uc001rrj.2	+	0	1050	c.510G>A	c.(508-510)ggG>ggA	p.G170G		NM_001013635	NP_001013657	Q52MB2	CL068_HUMAN	Homo sapiens chromosome 12 open reading frame 68 (C12orf68), mRNA.	170						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						TCCTTGGGGGGGACGGGCCAC	0.652000														7			4		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087253	92087253	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92087253G>A	uc001pdj.4	+	0	1992	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	659	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACTGATGGAGAGAATCTTGC	0.393000										TCGA Ovarian(4;0.039)				39			7		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35716442	35716442	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:35716442C>T	uc021rid.1	+	17	2907	c.2373C>T	c.(2371-2373)ttC>ttT	p.F791F	NBEA_uc021ric.1_Silent_p.F791F	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	791						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)		ATAGTCTTTTCACTCTTCTTG	0.368000														97			25		0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	40034005	40034005	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40034005C>T	uc001zki.3	-	6	873	c.655_splice	c.e6+1	p.D219_splice		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	219										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTTAAATATACCTTTATTGAG	0.328000														31			13		0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81123333	81123333	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:81123333C>T	uc010ijo.3	+	7	1556	c.717C>T	c.(715-717)ccC>ccT	p.P239P	PRDM8_uc003hmb.4_Silent_p.P239P|PRDM8_uc003hmc.4_Silent_p.P239P	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	239	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						ACCCATCCCCCTCCCCGGAAA	0.667000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			20		0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891892	2891892	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:2891892G>A	uc002kln.3	+	3	1926	c.1767G>A	c.(1765-1767)acG>acA	p.T589T		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	589					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TCAACGACACGATGCACAGGA	0.448000														34			23		0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93244932	93244932	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:93244932G>A	uc001tck.3	-	8	1018	c.753C>T	c.(751-753)ctC>ctT	p.L251L		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	251					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ATTCATCTTTGAGTTTTTCAG	0.368000														59			17		0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205899140	205899140	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205899140G>A	uc001hdp.3	-	5	711	c.597C>T	c.(595-597)ctC>ctT	p.L199L	SLC26A9_uc001hdo.3_5'Flank|SLC26A9_uc001hdq.3_Silent_p.L199L	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	199						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)			AGGACTCGGAGAGGTAGATGG	0.567000														37			12		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46727042	46727042	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46727042G>A	uc003cqa.2	-	6	952	c.759C>T	c.(757-759)ctC>ctT	p.L253L	ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.L253L	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	253					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CATCATCAAAGAGCAGCACAC	0.617000														30			9		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54783434	54783434	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54783434G>A	uc002qfb.3	-	4	690	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.L142F|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.L142F|LILRB2_uc010yet.2_Missense_Mutation_p.L26F|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	142	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L142V(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACACTGGAGGGTCACCCTT	0.582000														107			39		0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58512243	58512243	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58512243G>A	uc003dkl.3	-	9	1471	c.1296C>T	c.(1294-1296)gcC>gcT	p.A432A		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	432					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		AGGTACAGGAGGCCGACAATT	0.607000														29			22		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701523	30701523	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:30701523C>T	uc003xil.3	-	0	5011	c.5011G>A	c.(5011-5013)Gac>Aac	p.D1671N		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1671										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGGTTTTGGTCTACCAACAGT	0.338000														80			23		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717102	142717102	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:142717102C>T	uc022cfm.1	-	0	1823	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	SLITRK4_uc022cfl.1_Missense_Mutation_p.R608Q|SLITRK4_uc004fbx.3_Missense_Mutation_p.R608Q|SLITRK4_uc004fby.3_Missense_Mutation_p.R608Q	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	608						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGGACTTCGAATGGGACC	0.418000														43			47		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87489305	87489305	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:87489305G>A	uc001kdl.1	-	8	1401	c.1300C>T	c.(1300-1302)Ctc>Ttc	p.L434F	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.L5F	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	434						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AATCCTTGGAGGCGGCTGCCC	0.517000										Multiple Myeloma(13;0.14)				66			27		0	0	1	0	0
AKR7A2	8574	broad.mit.edu	37	1	19634676	19634676	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:19634676G>A	uc001bbw.3	-	2	589	c.567C>T	c.(565-567)ggC>ggT	p.G189G	AKR7A2_uc009vpi.1_Silent_p.G189G	NM_003689	NP_003680	O43488	ARK72_HUMAN	Homo sapiens aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) (AKR7A2), mRNA.	189					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGATCCAGCCATTGCTCT	0.612000														71			26		0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1823746	1823746	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:1823746G>A	uc002lua.4	-	3	2150	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	REXO1_uc010dsq.3_5'Flank|REXO1_uc010xgs.1_5'Flank|LOC100288123_uc002lub.1_Intron	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	685						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		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)		TCGGGGGCCGGGCCGGGGGCA	0.741000														3			4		0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691754	153691754	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:153691754G>A	uc003imy.3	-	1	1224	c.403C>T	c.(403-405)Cgt>Tgt	p.R135C	TIGD4_uc021xtf.1_Missense_Mutation_p.R135C	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	Homo sapiens tigger transposable element derived 4 (TIGD4), mRNA.	135	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding|chromatin binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					GATTTAAAACGATCCAGCCAA	0.413000														59			72		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375885	113375885	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:113375885G>A	uc003eam.3	-	6	5055	c.4644C>T	c.(4642-4644)tcC>tcT	p.S1548S	KIAA2018_uc003eal.3_Silent_p.S1492S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1548	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCTTGGATCGGGATTGGTCAG	0.502000														70			15		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181549743	181549743	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181549743G>A	uc009wxt.3	+	5	977	c.782G>A	c.(781-783)gGa>gAa	p.G261E	CACNA1E_uc001gow.3_Missense_Mutation_p.G261E|CACNA1E_uc009wxs.3_Missense_Mutation_p.G261E|CACNA1E_uc009wxr.3_Missense_Mutation_p.G168E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	261					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						ATTCTAGAAGGATTTGACCCC	0.507000														135			50		0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47571890	47571890	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47571890C>T	uc001cqu.1	+	8	1161	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	386						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCCGGTTACTCGACAAACCCA	0.463000														126			10		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419462	123419462	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:123419462G>A	uc003ego.3	-	17	3135	c.2853C>T	c.(2851-2853)gtC>gtT	p.V951V	MYLK_uc011bjw.2_Silent_p.V951V|MYLK_uc003egp.3_Silent_p.V882V|MYLK_uc003egq.3_Silent_p.V951V|MYLK_uc003egr.3_Silent_p.V882V|MYLK_uc003egs.3_Silent_p.V775V|MYLK_uc003egt.3_Silent_p.V142V	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	951	5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).|Calmodulin-binding (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCGAAAATCGACCTGCTGGG	0.597000														50			24		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897751	175897751	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:175897751G>A	uc003iuc.3	+	4	1745	c.1075G>A	c.(1075-1077)Ggc>Agc	p.G359S	ADAM29_uc003iud.3_Missense_Mutation_p.G359S|ADAM29_uc010irr.3_Missense_Mutation_p.G359S|ADAM29_uc011cki.2_Missense_Mutation_p.G359S|ADAM29_uc021xuo.1_Missense_Mutation_p.G359S	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	359	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AATGCATGAAGGCAACCCACC	0.373000														111			47		0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19018374	19018374	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:19018374G>A	uc001bay.3	+	4	1311	c.713G>A	c.(712-714)aGg>aAg	p.R238K	PAX7_uc001baz.3_Missense_Mutation_p.R236K|PAX7_uc010oct.2_Missense_Mutation_p.R238K	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	238					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GCCTTTGAGAGGACCCACTAC	0.637000			T	FOXO1A	alveolar rhabdomyosarcoma									24			7		0	0	1	0	0
GOLGA8C	729786	broad.mit.edu	37	15	20778028	20778028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:20778028C>T	uc010tzc.1	+	17	2284	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	DQ572979_uc001ytq.2_5'Flank					Homo sapiens golgin A8 family, member C (GOLGA8C), non-coding RNA.											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|ovary(1)|skin(1)	8						GTGTGCCATTCTTTTGCTGGG	0.507000														54			57		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41040073	41040073	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41040073G>A	uc002ony.3	+	19	4268	c.4182G>A	c.(4180-4182)gaG>gaA	p.E1394E	SPTBN4_uc002onx.3_Silent_p.E1394E|SPTBN4_uc002onz.3_Silent_p.E1394E|SPTBN4_uc010egx.3_Silent_p.E137E|SPTBN4_uc010egy.1_Silent_p.E70E|SPTBN4_uc002ooa.3_Silent_p.E70E|SPTBN4_uc010egz.1_Silent_p.E70E	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1394					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGGGCGGAGCTGGAGAGCA	0.642000														18			11		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134990687	134990687	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:134990687G>A	uc004ezh.3	+	11	1519	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	SAGE1_uc010nry.1_Missense_Mutation_p.R420Q|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	451								p.R451Q(2)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AATGGCCAACGAAAACAGGAT	0.428000														70			77		0	0	1	0	0
SLC1A3	6507	broad.mit.edu	37	5	36677252	36677252	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:36677252G>A	uc003jkj.4	+	5	1302	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	SLC1A3_uc011cox.2_Missense_Mutation_p.E169K|SLC1A3_uc010iuy.3_Missense_Mutation_p.E276K	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	276					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TTCTCTTAACGAAGCCATCAT	0.413000														62			32		0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20107106	20107106	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:20107106G>A	uc001bcn.3	-	3	388	c.146C>T	c.(145-147)tCc>tTc	p.S49F	TMCO4_uc001bco.1_Missense_Mutation_p.S49F|TMCO4_uc001bcp.1_Missense_Mutation_p.S49F|TMCO4_uc009vpn.1_Missense_Mutation_p.S49F|TMCO4_uc001bcq.1_Missense_Mutation_p.S49F	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	49						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CTGGGACAGGGAGATGCCACA	0.592000														33			15		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154124377	154124377	+	Missense_Mutation	SNP	C	T	T	rs137852366		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:154124377C>T	uc004fmt.3	-	21	6575	c.6404G>A	c.(6403-6405)cGa>cAa	p.R2135Q	F8_uc010nvi.1_3'UTR	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	2135	F5/8 type C 1.		R -> P (in HEMA; severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGAATTTCCTCGATAAGTCTG	0.408000														113			24		0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18707817	18707817	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18707817C>T	uc010ebt.2	-	4	934	c.740G>A	c.(739-741)gGg>gAg	p.G247E		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	247	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CTCCAGGCCCCCGACGCGGCT	0.662000														39			4		0	0	1	0	0
ZNF8	7554	broad.mit.edu	37	19	58805736	58805736	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58805736C>T	uc002qry.1	+	3	692	c.562C>T	c.(562-564)Cca>Tca	p.P188S	ZNF8_uc002qrz.3_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	Homo sapiens zinc finger protein 8 (ZNF8), mRNA.	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GAGTTCAAGCCCAAATCCATT	0.448000														40			22		0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66802194	66802194	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66802194G>A	uc009yrl.3	+	2	343	c.113G>A	c.(112-114)aGc>aAc	p.S38N	SYT12_uc001oju.3_Missense_Mutation_p.S38N	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	38						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GCAGCTGTGAGCCTGTGGAAG	0.632000														61			22		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142480031	142480031	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142480031G>A	uc011ksq.2	+	1	246	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CCTCATCAGCGAACAGTGGGT	0.577000														140			48		0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974138	49974138	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:49974138C>T	uc010rhz.2	+	0	196	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S55S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCACTGAGATCCCCCATGTAC	0.428000														152			104		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179648883	179648883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179648883C>T	uc021vsy.1	-	15	2914	c.2689G>A	c.(2689-2691)Gag>Aag	p.E897K	TTN_uc021vsz.1_Missense_Mutation_p.E851K|TTN_uc021vta.1_Missense_Mutation_p.E851K|TTN_uc021vtb.1_Missense_Mutation_p.E851K|TTN_uc002unb.2_Missense_Mutation_p.E897K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	897							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)			TTTTTCACCTCAACGCCAGCT	0.547000														91			37		0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177608588	177608588	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:177608588G>A	uc003ius.1	-	5	1328	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	300	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.R300L(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CTGGCAGGCCGAAGCCCCGCT	0.512000														122			11		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38192815	38192815	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:38192815G>A	uc009vvi.3	-	7	1817	c.1731C>T	c.(1729-1731)ctC>ctT	p.L577L	EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	577						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCCCAGGACGAGGAGGGCCG	0.617000														42			25		0	0	1	0	0
VSIG4	11326	broad.mit.edu	37	X	65252517	65252517	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:65252517G>A	uc004dwh.2	-	2	614	c.487C>T	c.(487-489)Ctt>Ttt	p.L163F	VSIG4_uc004dwi.2_Intron|VSIG4_uc004dwj.3_Missense_Mutation_p.L163F|VSIG4_uc011moy.2_Intron	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 4 (VSIG4), transcript variant 1, mRNA.	163	Ig-like 2.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGCATTGAAGGCTAATCCTC	0.483000														33			8		0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11344004	11344004	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11344004G>A	uc002mqs.4	-	21	2634	c.2593C>T	c.(2593-2595)Cgt>Tgt	p.R865C	DOCK6_uc010xlq.2_Missense_Mutation_p.R169C	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	865					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCAGAGCCACGGGCCAGTGTG	0.642000														30			11		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48965526	48965526	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48965526C>T	uc010kyv.1	+	0	1370	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		TCTCCCATCTCCCCTGGCTGT	0.448000														19			3		0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77316575	77316575	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:77316575G>A	uc003kfj.3	-	24	3058	c.2933C>T	c.(2932-2934)cCt>cTt	p.P978L		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	978					endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TTCTCCAACAGGTGGCTGAAT	0.338000									Hermansky-Pudlak syndrome					61			23		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192132	66192132	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66192132C>T	uc001ohx.1	+	6	1947	c.1771C>T	c.(1771-1773)Cta>Tta	p.L591L	NPAS4_uc010rpc.1_Silent_p.L381L	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	591					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						GCTCTTGGCCCTAGCCCAGCT	0.587000														109			28		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519762	69519762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69519762C>T	uc021xow.1	-	4	1464	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	436					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CACACAGGGTCATTAATGACT	0.373000														165			69		0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134049606	134049606	+	Missense_Mutation	SNP	C	T	T	rs140330621		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:134049606C>T	uc004cag.3	+	21	3169	c.3058C>T	c.(3058-3060)Cgc>Tgc	p.R1020C	NUP214_uc004cah.3_Missense_Mutation_p.R1010C|NUP214_uc004cai.3_Missense_Mutation_p.R450C|NUP214_uc004caf.1_Missense_Mutation_p.R1009C|NUP214_uc010mzf.3_Missense_Mutation_p.R318C	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1020	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCCCGTGGTTCGCACTCCTTC	0.562000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									65			44		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72498746	72498746	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72498746C>T	uc001jrg.3	+	11	1757	c.1757_splice	c.e11+1	p.S586_splice	ADAMTS14_uc001jrh.3_Splice_Site_p.S583_splice|ADAMTS14_uc001jri.1_Splice_Site_p.S106_splice	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	583	TSP type-1 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AACAACCCCTCGTGAGTGTGC	0.672000														24			13		0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204002981	204002981	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:204002981C>T	uc002uzt.3	+	28	4908	c.4575C>T	c.(4573-4575)atC>atT	p.I1525I	NBEAL1_uc021vvj.1_Silent_p.I228I	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1525							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TAGTGCTGATCATACAGGACT	0.373000														74			27		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39934344	39934344	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:39934344C>T	uc021olw.1	+	60	17158	c.17158C>T	c.(17158-17160)Cgc>Tgc	p.R5720C	MACF1_uc021ols.1_Missense_Mutation_p.R5209C|MACF1_uc021olt.1_Missense_Mutation_p.R5212C|MACF1_uc001cde.2_Missense_Mutation_p.R89C|MACF1_uc001cdg.3_Missense_Mutation_p.R3C|MACF1_uc001cdh.3_Missense_Mutation_p.R3C	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7170					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGTGATGGTTCGCGTTGGTGG	0.433000														58			28		0	0	1	0	0
FGF1	2246	broad.mit.edu	37	5	141993537	141993537	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:141993537C>T	uc003lmm.3	-	1	236	c.156G>A	c.(154-156)agG>agA	p.R52R	FGF1_uc011dbi.2_Silent_p.R52R|FGF1_uc003lmn.4_Silent_p.R52R|FGF1_uc003lmp.4_Silent_p.R52R|FGF1_uc003lmq.3_Silent_p.R52R|FGF1_uc010jgj.3_Silent_p.R52R|FGF1_uc003lmr.3_Silent_p.R52R|FGF1_uc003lms.4_Silent_p.R52R|FGF1_uc021yew.1_Silent_p.R52R	NM_001144892	NP_001138407	P05230	FGF1_HUMAN	Homo sapiens fibroblast growth factor 1 (acidic) (FGF1), transcript variant 4, mRNA.	52					angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	S100 alpha binding|fibroblast growth factor receptor binding|growth factor activity|heparin binding			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	GCTGGTCGCTCCTGTCCCTTG	0.537000														57			7		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640386	57640386	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57640386G>A	uc002qny.3	+	3	699	c.343G>A	c.(343-345)Gat>Aat	p.D115N	USP29_uc021vci.1_Missense_Mutation_p.D115N	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	115					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			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)		GAAATCTGATGATGATTGGAG	0.353000														69			20		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220348083	220348083	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220348083G>A	uc010fwg.3	+	29	5898	c.5898G>A	c.(5896-5898)ggG>ggA	p.G1966G		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1966					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CAGAGACTGGGGCTGCCACCC	0.701000														18			6		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927205	130927205	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:130927205C>T	uc001uil.2	-	8	857	c.641_splice	c.e8-1	p.G214_splice	RIMBP2_uc001uim.3_Splice_Site_p.G122_splice	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	214	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GAGGAGCTCTCCTGTTGGGTA	0.617000														35			5		0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25042867	25042867	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:25042867C>T	uc001wpq.3	-	4	781	c.744G>A	c.(742-744)ctG>ctA	p.L248L		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	248					immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CCATCTGATCCAGCAGTTTGA	0.507000														289			67		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62049186	62049186	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62049186G>A	uc002jds.1	-	3	584	c.507C>T	c.(505-507)acC>acT	p.T169T		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	169					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGACTCAAAGGTGTAGATCC	0.592000														23			8		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130162359	130162359	+	Missense_Mutation	SNP	C	T	T	rs150604117	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130162359C>T	uc010htj.1	+	35	7021	c.6527C>T	c.(6526-6528)gCc>gTc	p.A2176V	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.A215V|COL6A5_uc010htk.1_Missense_Mutation_p.A215V	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2176	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTTGAGGATGCCTGTAGACTC	0.368000														55			18		0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248486954	248486954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248486954C>T	uc010pzk.2	-	0	917	c.917G>A	c.(916-918)gGa>gAa	p.G306E		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			CTTGCCCTTTCCTAAGATTTT	0.388000														61			13		0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176812784	176812784	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176812784C>T	uc003mgk.4	+	1	146	c.42C>T	c.(40-42)tcC>tcT	p.S14S	SLC34A1_uc021yis.1_Silent_p.S14S	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	14					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCTGTCTCCCCACTCCCAG	0.622000														19			6		0	0	1	0	0
CSDC2	27254	broad.mit.edu	37	22	41968057	41968057	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:41968057G>A	uc003bak.1	+	1	385	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_014460	NP_055275	Q9Y534	CSDC2_HUMAN	Homo sapiens cold shock domain containing C2, RNA binding (CSDC2), mRNA.	30					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|protein binding			prostate(2)|upper_aerodigestive_tract(1)	3						CTTCCACAGGGAGGGCAGCAG	0.667000														7			4		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40114658	40114658	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	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														88			24		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114153329	114153329	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:114153329C>T	uc003ibe.4	+	4	497	c.397C>T	c.(397-399)Cct>Tct	p.P133S	ANK2_uc003ibd.4_Missense_Mutation_p.P112S|ANK2_uc003ibf.4_Missense_Mutation_p.P133S|ANK2_uc003ibc.2_Missense_Mutation_p.P109S|ANK2_uc011cgb.1_Missense_Mutation_p.P148S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	133					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGCTTTACTCCTTTATACAT	0.393000														78			25		0	0	1	0	0
KRTAP19-8	728299	broad.mit.edu	37	21	32410599	32410599	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:32410599C>T	uc010glt.3	-	0	197	c.164G>A	c.(163-165)gGa>gAa	p.G55E		NM_001099219	NP_001092689	Q3LI54	KR198_HUMAN	Homo sapiens keratin associated protein 19-8 (KRTAP19-8), mRNA.	55						intermediate filament		p.Y54C(1)		endometrium(2)|upper_aerodigestive_tract(1)	3						TCCATATCCTCCGTAGTATAA	0.478000														151			48		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1212541	1212541	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1212541C>T	uc003jbw.4	+	3	661	c.605C>T	c.(604-606)gCc>gTc	p.A202V		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	202					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGTGCCTGGCCTGCGCATGG	0.637000														145			13		0	0	1	0	0
UBXN6	80700	broad.mit.edu	37	19	4453501	4453501	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4453501G>A	uc002man.2	-	2	363	c.266C>T	c.(265-267)gCc>gTc	p.A89V	UBXN6_uc002mam.2_Missense_Mutation_p.A36V	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	Homo sapiens UBX domain protein 6 (UBXN6), transcript variant 1, mRNA.	89						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GGTGGCTTCGGCTTGAAGTTC	0.632000														31			5		0	0	1	0	0
CCND2	894	broad.mit.edu	37	12	4387925	4387925	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4387925G>A	uc001qmo.3	+	3	717	c.412_splice	c.e3-1	p.E138_splice		NM_001759	NP_001750	P30279	CCND2_HUMAN	Homo sapiens cyclin D2 (CCND2), mRNA.	138	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			TTCCCCTCCAGGAGTGGGAAC	0.572000			T	IGL@	"""NHL,CLL"""									79			10		0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371088	55371088	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55371088G>A	uc010rii.2	-	0	787	c.762C>T	c.(760-762)ttC>ttT	p.F254F		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GTGTATATATGAATATACATG	0.438000														83			8		0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96389457	96389457	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:96389457C>T	uc001tem.1	-	1	529	c.232G>A	c.(232-234)Gag>Aag	p.E78K	HAL_uc010sux.1_Missense_Mutation_p.E78K|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	78					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TCCACGAACTCGTTGTTCTCT	0.627000														66			7		0	0	1	0	0
WASF1	8936	broad.mit.edu	37	6	110423024	110423024	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:110423024G>A	uc003ptv.1	-	9	2126	c.1289C>T	c.(1288-1290)cCt>cTt	p.P430L	WASF1_uc003ptw.1_Missense_Mutation_p.P430L|WASF1_uc003ptx.1_Missense_Mutation_p.P430L|WASF1_uc003pty.1_Missense_Mutation_p.P430L	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Homo sapiens WAS protein family, member 1 (WASF1), transcript variant 1, mRNA.	430	Poly-Pro.				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		AGGCAGAGGAGGCGGTGGTGG	0.572000														41			30		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51851266	51851266	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51851266C>T	uc001rys.1	+	5	884	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	SLC4A8_uc010sni.2_Missense_Mutation_p.R183C|SLC4A8_uc001rym.3_Missense_Mutation_p.R183C|SLC4A8_uc001ryn.3_Missense_Mutation_p.R183C|SLC4A8_uc001ryo.2_Missense_Mutation_p.R183C|SLC4A8_uc001ryp.1_Missense_Mutation_p.R183C|SLC4A8_uc010snj.2_Missense_Mutation_p.R263C|SLC4A8_uc001ryq.4_Missense_Mutation_p.R236C|SLC4A8_uc001ryr.3_Missense_Mutation_p.R236C|SLC4A8_uc010snk.2_Missense_Mutation_p.R183C	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	236					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCCCATTGTTCGCTCCTTTGC	0.393000														85			24		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35644168	35644168	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:35644168C>T	uc021rid.1	+	8	1897	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	NBEA_uc021ric.1_Nonsense_Mutation_p.Q455*	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	455						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)		CACTGATGCTCAGCTCTGCCT	0.413000														20			14		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54435228	54435228	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54435228G>A	uc021smr.1	+	1	2997	c.2997G>A	c.(2995-2997)gtG>gtA	p.V999V	UNC13C_uc021sms.1_Silent_p.V999V	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	999					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)		GCAGTTCTGTGGATGAAAAGG	0.328000														78			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072128	9072128	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9072128G>A	uc002mkp.3	-	2	15522	c.15318C>T	c.(15316-15318)gcC>gcT	p.A5106A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5108	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						CTTTAGAAGTGGCCAGTATCT	0.428000														96			45		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43814503	43814503	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43814503G>A	uc001zrt.3	+	3	1299	c.832G>A	c.(832-834)Gag>Aag	p.E278K		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	278						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAAGATCTTGGAGGGCCTAGA	0.547000														61			14		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61463559	61463559	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61463559G>A	uc002ljl.3	+	4	492	c.396G>A	c.(394-396)acG>acA	p.T132T	SERPINB7_uc002ljm.3_Silent_p.T132T|SERPINB7_uc010xet.2_Silent_p.T115T|SERPINB7_uc010dqg.3_Silent_p.T132T	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	132					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.T132T(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TTGACTTTACGAATCATTTAG	0.333000														62			21		0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58306080	58306080	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:58306080C>T	uc002aex.3	-	2	612	c.339G>A	c.(337-339)gtG>gtA	p.V113V	ALDH1A2_uc010ugv.2_Silent_p.V92V|ALDH1A2_uc002aey.3_Silent_p.V113V|ALDH1A2_uc010ugw.2_Silent_p.V84V|ALDH1A2_uc002aew.3_Silent_p.V17V	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	113					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TGTCCCGTTCCACCAAGTCTG	0.473000														343			128		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178554971	178554971	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178554971G>A	uc003mjw.3	-	16	2708	c.2606C>T	c.(2605-2607)cCc>cTc	p.P869L		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	869	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCCGCCACAGGGCTTGGAGCA	0.612000														141			15		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540419	133540419	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:133540419G>A	uc002ttp.3	-	13	4339	c.3965C>T	c.(3964-3966)tCt>tTt	p.S1322F	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1322							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTTGTTGGGAGAGCTTTCCGT	0.612000														46			6		0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27148074	27148074	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:27148074T>C	uc011jzl.2	-	2	992	c.792A>G	c.(790-792)ccA>ccG	p.P264P	HOXA3_uc003syk.3_Silent_p.P264P	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	264					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GGCTGCGACTTGGAGACTGGC	0.602000														129			50		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18725187	18725187	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:18725187C>T	uc003wza.3	-	3	1734	c.1631G>A	c.(1630-1632)gGa>gAa	p.G544E		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	544	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CGAGTACCTTCCCCAGAAAGC	0.463000														51			19		0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109529264	109529264	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:109529264G>A	uc001dwl.3	-	9	2206	c.1830C>T	c.(1828-1830)atC>atT	p.I610I	WDR47_uc001dwi.3_Silent_p.I603I|WDR47_uc001dwj.3_Silent_p.I602I|WDR47_uc001dwk.2_Silent_p.I574I|WDR47_uc010ovf.2_Silent_p.I529I	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	602										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGTCTTCTAGGATATTAATAC	0.323000														43			20		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886187	9886187	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:9886187G>A	uc002koi.4	+	0	465	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	TXNDC2_uc002koh.4_Intron|TXNDC2_uc021ugx.1_5'Flank	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	6					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TGTAGACAAGGAACTAGGAAT	0.428000														28			6		0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13092387	13092387	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:13092387C>T	uc010xac.2	+	33	6195	c.6115C>T	c.(6115-6117)Ccc>Tcc	p.P2039S	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.P1564S|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.P461S|CEP192_uc002krx.3_Missense_Mutation_p.P43S|CEP192_uc002kry.3_Non-coding_Transcript	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1634										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATATGATCTTCCCCAACGACC	0.308000														49			18		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312489	48312489	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48312489C>T	uc003toq.2	+	16	3250	c.3226C>T	c.(3226-3228)Cgt>Tgt	p.R1076C	ABCA13_uc010kyr.2_Missense_Mutation_p.R579C|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1076					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGAAGATTTTCGTATTTCTTT	0.378000														14			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089917	9089917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9089917G>A	uc002mkp.3	-	0	2102	c.1898C>T	c.(1897-1899)tCa>tTa	p.S633L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	633	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						TGTCTCAGATGATGCTGTGGC	0.577000														80			20		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11060364	11060364	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:11060364C>T	uc010hdq.3	+	4	862	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	151					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CATTTACTACCTGTACAACTC	0.582000														36			13		0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49686399	49686399	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49686399C>T	uc002pmw.3	+	11	1781	c.1673C>T	c.(1672-1674)cCc>cTc	p.P558L	TRPM4_uc010emu.3_Missense_Mutation_p.P558L|TRPM4_uc010yak.2_Missense_Mutation_p.P22L|TRPM4_uc002pmx.3_Missense_Mutation_p.P384L|TRPM4_uc010emv.3_Missense_Mutation_p.P443L|TRPM4_uc010yal.2_Missense_Mutation_p.P204L|TRPM4_uc002pmy.3_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	558					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGGCAGGCCCCCTGGAGCGAC	0.627000														41			20		0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93588440	93588440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:93588440C>T	uc010urc.2	-	3	1396	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	RGMA_uc002bsq.2_Missense_Mutation_p.D365N|RGMA_uc021svs.1_Missense_Mutation_p.D365N|RGMA_uc021svt.1_Missense_Mutation_p.D365N|RGMA_uc010boi.2_Missense_Mutation_p.D272N|RGMA_uc002bsr.2_Missense_Mutation_p.D272N|RGMA_uc021svu.1_Missense_Mutation_p.D365N|RGMA_uc002bss.2_Missense_Mutation_p.D381N	NM_001166283	NP_001159761	Q96B86	RGMA_HUMAN	Homo sapiens RGM domain family, member A (RGMA), transcript variant 1, mRNA.	381					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GTGAGGAGGTCGAAGACGCAG	0.592000														22			3		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50055509	50055509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:50055509G>A	uc003jon.4	+	4	399	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	PARP8_uc011cpz.2_Intron|PARP8_uc003joo.3_Missense_Mutation_p.E73K|PARP8_uc003jop.3_Missense_Mutation_p.E73K	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	73						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGAGAATGATGAAGATGTGCT	0.244000														85			16		0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109780861	109780861	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:109780861C>T	uc021xqo.1	-	22	1327	c.1271G>A	c.(1270-1272)gGa>gAa	p.G424E	COL25A1_uc003hze.1_Missense_Mutation_p.G424E|COL25A1_uc021xqp.1_Missense_Mutation_p.G424E|COL25A1_uc003hzg.3_Missense_Mutation_p.G424E|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.G190E	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	424	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTCAGTGGCTCCTTGATCCCC	0.507000														35			12		0	0	1	0	0
DHRS3	9249	broad.mit.edu	37	1	12638970	12638970	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12638970G>A	uc001auc.3	-	3	941	c.474C>T	c.(472-474)ttC>ttT	p.F158F	DHRS3_uc001aub.3_Silent_p.F73F	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	158					retinol metabolic process|visual perception	integral to membrane	NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TACGTGGCAGGAAGGCCTTGG	0.622000														34			7		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30365209	30365209	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:30365209G>A	uc002ymr.2	-	0	69	c.56C>T	c.(55-57)tCt>tTt	p.S19F		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	0							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGCGGCGGAAGAGGACACCCT	0.632000														9			6		0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35060446	35060446	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35060446G>A	uc003zvy.2	-	12	1948	c.1559C>T	c.(1558-1560)cCt>cTt	p.P520L	VCP_uc010mkh.1_Missense_Mutation_p.P189L|VCP_uc010mki.1_Missense_Mutation_p.P475L	NM_007126	NP_009057	P55072	TERA_HUMAN	Homo sapiens valosin containing protein (VCP), mRNA.	520					ER-associated protein catabolic process|activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCCACAGCCAGGAGGTCCATA	0.498000														58			27		0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457306	6457306	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6457306G>A	uc001qnw.3	-	11	2184	c.1920C>T	c.(1918-1920)ttC>ttT	p.F640F	SCNN1A_uc001qnv.3_Silent_p.F281F|SCNN1A_uc001qnx.3_Silent_p.F581F|SCNN1A_uc010sfb.2_Silent_p.F604F	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	581					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GCAGCATGAGGAACATGATGA	0.617000														38			23		0	0	1	0	0
CXCR7	57007	broad.mit.edu	37	2	237489689	237489689	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:237489689C>T	uc021vys.1	+	0	581	c.581C>T	c.(580-582)aCc>aTc	p.T194I	CXCR7_uc010fyq.3_Missense_Mutation_p.T194I|CXCR7_uc002vwd.3_Missense_Mutation_p.T194I	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	194					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		AACAATGAGACCTACTGCCGG	0.587000														112			33		0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128564722	128564722	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:128564722C>T	uc003ifk.2	+	1	296	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	65										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AAATGGAGAGCTGTTTTATTT	0.388000														222			81		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57522853	57522853	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:57522853G>A	uc011kdi.1	+	2	353	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.									p.E81D(1)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAAGAGAAATGAGATGGTAGC	0.408000														114			32		0	0	1	0	0
GNL3L	54552	broad.mit.edu	37	X	54574665	54574665	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:54574665C>T	uc022bxi.1	+	8	890	c.634C>T	c.(634-636)Cgt>Tgt	p.R212C	GNL3L_uc004dti.3_Non-coding_Transcript|GNL3L_uc004dth.2_Missense_Mutation_p.R212C	NM_001184819	NP_061940	Q9NVN8	GNL3L_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar)-like (GNL3L), transcript variant 1, mRNA.	212					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TTTCCAGAATCGTTGCAGTGT	0.478000														5			9		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117669776	117669776	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117669776G>A	uc001twn.2	-	22	4209	c.3498C>T	c.(3496-3498)gtC>gtT	p.V1166V	NOS1_uc021ren.1_Silent_p.V796V|NOS1_uc021reo.1_Silent_p.V796V|NOS1_uc001twm.2_Silent_p.V1132V	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1132	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCTTGCTGAGGACCAGCAGAC	0.557000														17			10		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3795352	3795352	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3795352G>A	uc002cvv.3	-	21	4044	c.3840C>T	c.(3838-3840)ttC>ttT	p.F1280F	CREBBP_uc002cvw.3_Silent_p.F1242F	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1280	Cys/His-rich.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCAATCAACGAAACTAGGAG	0.512000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							21			10		0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148614388	148614388	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:148614388G>A	uc003ewm.3	+	10	1200	c.1148G>A	c.(1147-1149)gGc>gAc	p.G383D		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	383					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.G383V(2)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CGAGATAAAGGCAAATTTGGT	0.433000														66			55		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51165482	51165482	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51165482G>A	uc002psx.1	-	22	6245	c.6226C>T	c.(6226-6228)Ctc>Ttc	p.L2076F	SHANK1_uc002psw.1_Missense_Mutation_p.L1460F	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	2076					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTCGGTGAGAGGGAGCGCGAG	0.682000														42			6		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28273125	28273125	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:28273125C>T	uc009xky.3	-	4	768	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.E224K|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	224							binding	p.E224Q(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GAGGTATATTCAATAGATTCC	0.328000														106			45		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940498	144940498	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144940498G>A	uc003zaa.1	-	0	6937	c.6924C>T	c.(6922-6924)acC>acT	p.T2308T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2308						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGTGTAGCCGGTGACGGCGC	0.706000														260			14		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60912783	60912783	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:60912783G>A	uc002ycq.3	-	16	2094	c.2027_splice	c.e16-1	p.P676_splice	LAMA5_uc021wfw.1_Splice_Site_p.P676_splice	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	676	Laminin EGF-like 7.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAGTGGCAGGCTGCAGACAA	0.662000														38			12		0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53364951	53364951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:53364951G>A	uc003pbw.2	-	14	2078	c.1594C>T	c.(1594-1596)Cct>Tct	p.P532S	GCLC_uc003pbv.1_Missense_Mutation_p.P256S|GCLC_uc021zau.1_Missense_Mutation_p.P494S	NM_001498	NP_001489	P48506	GSH1_HUMAN	Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC), transcript variant 1, mRNA.	532					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	ATCAGTCCAGGAAACACACCT	0.478000														108			20		0	0	1	0	0
FAM118A	55007	broad.mit.edu	37	22	45723824	45723824	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:45723824C>T	uc003bfz.4	+	4	1018	c.402C>T	c.(400-402)atC>atT	p.I134I	FAM118A_uc003bga.4_Silent_p.I134I|DQ586951_uc021wri.1_5'Flank|DQ586951_uc011aqp.1_5'Flank|DQ586951_uc021wrj.1_5'Flank|DQ586951_uc011aqq.1_5'Flank|FAM118A_uc011aqr.2_5'Flank	NM_001104595	NP_060381	Q9NWS6	F118A_HUMAN	Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA.	134						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGCAGTCGATCCTCAGCCTGA	0.617000														41			11		0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2769796	2769796	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:2769796C>T	uc002klm.4	+	37	5013	c.4824C>T	c.(4822-4824)atC>atT	p.I1608I	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	1608					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AACCATATATCCTACCGTTCA	0.363000														10			5		0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104516006	104516006	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:104516006G>A	uc001yom.4	+	34	4066	c.4036G>A	c.(4036-4038)Gag>Aag	p.E1346K	TDRD9_uc001yon.4_Missense_Mutation_p.E893K	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	1346					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AAAGCCCTACGAGTGGAATCA	0.478000														13			5		0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182869233	182869233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:182869233C>T	uc001gpu.3	-	9	2132	c.1847G>A	c.(1846-1848)gGa>gAa	p.G616E	SHCBP1L_uc001gpv.3_Missense_Mutation_p.G497E|SHCBP1L_uc010pnz.2_Missense_Mutation_p.G474E|SHCBP1L_uc001gpw.3_Missense_Mutation_p.G336E	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	688										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TTTTTTATCTCCTGAAGAAGC	0.343000														21			15		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48964967	48964967	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48964967G>A	uc010kyv.1	+	0	811	c.699G>A	c.(697-699)ctG>ctA	p.L233L						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		TTATTCGTCTGAATAAAAGGA	0.413000														29			11		0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39224440	39224440	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:39224440C>T	uc003awk.3	-	1	856	c.702G>A	c.(700-702)aaG>aaA	p.K234K		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	234						integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GCTGGTCCATCTTGGAGTGTA	0.657000														19			8		0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649546	75649546	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:75649546C>T	uc004ecm.2	+	0	1501	c.1223C>T	c.(1222-1224)cCt>cTt	p.P408L		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	408	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGCCTAACCCTGGTGAGGGC	0.627000														16			4		0	0	1	0	0
MTERFD2	130916	broad.mit.edu	37	2	242039285	242039285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242039285G>A	uc002wan.1	-	0	626	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S	MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Missense_Mutation_p.P16S	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	Homo sapiens MTERF domain containing 2 (MTERFD2), transcript variant 1, mRNA.	16			T -> A (in dbSNP:rs3796093).							endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CAGGTGAGGGGGATCAGGCGG	0.498000														33			14		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50733542	50733542	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:50733542G>A	uc002egm.1	+	1	322	c.217G>A	c.(217-219)Ggc>Agc	p.G73S	NOD2_uc010cbj.1_Missense_Mutation_p.G46S|NOD2_uc021tia.1_5'UTR|NOD2_uc010cbk.1_Missense_Mutation_p.G46S|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	73	CARD 1.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGACTACGAGGGCTTCCACCT	0.637000														60			27		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21628917	21628917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:21628917G>A	uc003svc.3	+	11	2096	c.2065G>A	c.(2065-2067)Gaa>Aaa	p.E689K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	689	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TATCTATAATGAATGGAAAAG	0.343000									Kartagener syndrome					75			10		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7759687	7759687	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:7759687G>A	uc001ijs.3	+	5	728	c.566G>A	c.(565-567)aGg>aAg	p.R189K		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	189					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGAAGTGGAGGAAGCTGGGC	0.522000														144			51		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777460	43777460	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:43777460C>T	uc010skx.2	-	30	4698	c.4698G>A	c.(4696-4698)gtG>gtA	p.V1566V		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1566	TSP type-1 13.					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)		CTATTTCATTCACTTGTCTGA	0.368000														44			11		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73680076	73680076	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:73680076C>T	uc002sje.1	+	7	6530	c.6419C>T	c.(6418-6420)tCc>tTc	p.S2140F	ALMS1_uc002sjf.1_Missense_Mutation_p.S2098F|ALMS1_uc002sjg.3_Missense_Mutation_p.S1528F|ALMS1_uc002sjh.1_Missense_Mutation_p.S1528F	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2140	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTTCCTAGTTCCTTTTCACAT	0.413000														80			16		0	0	1	0	0
ZNF491	126069	broad.mit.edu	37	19	11917576	11917576	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11917576C>T	uc002mso.1	+	2	1093	c.808C>T	c.(808-810)Cct>Tct	p.P270S	ZNF491_uc021upj.1_Missense_Mutation_p.P270S	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	Homo sapiens zinc finger protein 491 (ZNF491), mRNA.	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						TGGAGAGAGGCCTCATAAATG	0.408000														75			23		0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298450	107298450	+	Silent	SNP	G	A	A	rs138480673	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107298450G>A	uc004bcb.1	-	0	645	c.645C>T	c.(643-645)ctC>ctT	p.L215L		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AGGCCAGCTTGAGGACAGCTA	0.388000														119			33		0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14306775	14306775	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:14306775C>T	uc021war.1	-	0	1378	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.E460K|FLRT3_uc002wow.2_Missense_Mutation_p.E460K	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	460	Fibronectin type-III.		E -> D (in dbSNP:rs35253731).		cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TCACTGCGTTCCCCTGTTACA	0.463000														84			33		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35771777	35771777	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35771777G>A	uc003jjo.3	+	26	3979	c.3868G>A	c.(3868-3870)Gaa>Aaa	p.E1290K	SPEF2_uc003jjp.1_Missense_Mutation_p.E776K|SPEF2_uc003jjr.3_5'Flank	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1290					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGACCCCAAAGAAAAATCTCC	0.398000														31			20		0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38963059	38963059	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38963059G>A	uc003jlo.2	-	16	1507	c.1485C>T	c.(1483-1485)gaC>gaT	p.D495D	RICTOR_uc003jlp.2_Silent_p.D495D|RICTOR_uc010ivf.2_Silent_p.D210D	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	495					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GAATAATGTGGTCTAAATGAA	0.393000														86			27		0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62647983	62647983	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:62647983C>T	uc001jli.3	-	6	1881	c.1443G>A	c.(1441-1443)aaG>aaA	p.K481K	RHOBTB1_uc009xpe.2_Silent_p.K419K|RHOBTB1_uc001jlh.3_Silent_p.K481K|RHOBTB1_uc001jlj.3_Silent_p.K481K|RHOBTB1_uc001jlk.3_Silent_p.K481K	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	481					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AGAACGTTCCCTTGCTGAGAC	0.473000														30			15		0	0	1	0	0
TFAP4	7023	broad.mit.edu	37	16	4311934	4311934	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:4311934G>A	uc010uxg.2	-	3	625	c.371C>T	c.(370-372)tCc>tTc	p.S124F		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	Homo sapiens transcription factor AP-4 (activating enhancer binding protein 4) (TFAP4), mRNA.	124					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						TCGCTTGGGGGACGAGCCGCT	0.657000											OREG0023575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			8		0	0	1	0	0
SRPK1	6732	broad.mit.edu	37	6	35837432	35837432	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:35837432G>A	uc003olj.3	-	10	1362	c.1238C>T	c.(1237-1239)tCt>tTt	p.S413F	SRPK1_uc003olh.3_Missense_Mutation_p.S306F|SRPK1_uc003oli.3_Missense_Mutation_p.S306F|SRPK1_uc011dtg.2_Missense_Mutation_p.S397F	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	413	Protein kinase.				RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S413Y(2)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						AGGTGTACAAGAGTCTGTTTC	0.418000														44			15		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32059435	32059435	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:32059435C>T	uc003jhl.3	+	12	2679	c.2291C>T	c.(2290-2292)tCa>tTa	p.S764L	PDZD2_uc003jhm.3_Missense_Mutation_p.S764L|PDZD2_uc011cnx.1_Missense_Mutation_p.S590L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	764	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCTCCAGGATCAGTGGCCAAG	0.463000														39			26		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056435	9056435	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9056435G>A	uc002mkp.3	-	2	31215	c.31011C>T	c.(31009-31011)ttC>ttT	p.F10337F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10339	Ser-rich.|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						CAGTGGTAGTGAAGGTTGAAG	0.522000														69			28		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64640081	64640081	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:64640081C>T	uc003dmg.3	-	7	1296	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	ADAMTS9_uc011bfo.2_Missense_Mutation_p.E394K|ADAMTS9_uc003dmh.1_Missense_Mutation_p.E251K|ADAMTS9_uc003dmk.1_Missense_Mutation_p.E422K	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	422	Peptidase M12B.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCACTATCTTCACTAATAGAA	0.398000														178			26		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237796914	237796914	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:237796914C>T	uc001hyl.1	+	42	6712	c.6592C>T	c.(6592-6594)Cgt>Tgt	p.R2198C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2198	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	p.R2196S(1)		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)			CAACTGTTGCCGTTTTCTCTG	0.388000														139			45		0	0	1	0	0
KIAA0825	285600	broad.mit.edu	37	5	93856513	93856513	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:93856513G>A	uc011cuk.2	-	4	667	c.410C>T	c.(409-411)tCt>tTt	p.S137F	KIAA0825_uc003kkp.2_Missense_Mutation_p.S137F	NM_001145678	NP_001139150	Q8IV33	K0825_HUMAN	Homo sapiens KIAA0825 (KIAA0825), transcript variant 1, mRNA.	137										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						GAAATGGAAAGATGTTCCACT	0.413000														42			13		0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241528843	241528843	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241528843C>T	uc002vzk.2	+	1	421	c.225C>T	c.(223-225)ttC>ttT	p.F75F	CAPN10_uc010zoh.2_Silent_p.F75F|CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Silent_p.F75F|CAPN10_uc002vzn.2_5'UTR|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Silent_p.F75F	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	75	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		ATTGCTGGTTCCTGTGTGCCT	0.602000														120			51		0	0	1	0	0
CPPED1	55313	broad.mit.edu	37	16	12798716	12798716	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:12798716G>A	uc002dca.4	-	2	591	c.480C>T	c.(478-480)ttC>ttT	p.F160F	CPPED1_uc002dcb.4_Intron	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	160							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGAGGACCAGGAACAGGACGC	0.617000														43			14		0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34257603	34257603	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34257603G>A	uc002xdw.2	-	12	1392	c.1315C>T	c.(1315-1317)Ctc>Ttc	p.L439F	CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|NFS1_uc002xdt.2_Missense_Mutation_p.L379F|NFS1_uc010zvl.2_Missense_Mutation_p.L388F|NFS1_uc010zvk.2_Missense_Mutation_p.L237F	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	439					Mo-molybdopterin cofactor biosynthetic process|cysteine metabolic process|iron incorporation into metallo-sulfur cluster|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	ATCTCCCAGAGAGGGCTGCCA	0.527000														72			35		0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57970952	57970952	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57970952G>A	uc010rkb.2	-	0	702	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	234					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)				CAGCTCTGATGATGCAGACAT	0.438000														60			20		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181721295	181721295	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181721295G>A	uc009wxt.3	+	26	3943	c.3748G>A	c.(3748-3750)Gac>Aac	p.D1250N	CACNA1E_uc001gow.3_Missense_Mutation_p.D1250N|CACNA1E_uc009wxs.3_Missense_Mutation_p.D1231N|CACNA1E_uc001gox.1_Missense_Mutation_p.D476N	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1250					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.D1250A(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						CAAAGGACGGGACATCAAGAC	0.478000														73			26		0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35786728	35786728	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35786728G>A	uc002nyy.2	+	3	457	c.259G>A	c.(259-261)Ggc>Agc	p.G87S	MAG_uc002nyx.2_Missense_Mutation_p.G87S|MAG_uc010eds.2_Missense_Mutation_p.G62S|MAG_uc002nyz.2_Missense_Mutation_p.G87S	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	87	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GAGCTTCCAGGGCCGCAGCCG	0.632000														167			58		0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45807055	45807055	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:45807055C>T	uc011bai.2	-	7	1401	c.1277G>A	c.(1276-1278)aGc>aAc	p.S426N	SLC6A20_uc003cow.3_Missense_Mutation_p.S76N|SLC6A20_uc011baj.2_Missense_Mutation_p.S389N	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	426					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGGCAGGTGGCTGGAGATGAT	0.632000														17			9		0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150868557	150868557	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:150868557G>A	uc022cgt.1	+	2	146	c.97G>A	c.(97-99)Gag>Aag	p.E33K	PRRG3_uc004few.2_Missense_Mutation_p.E33K	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	33	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCACCATCGAGCGAGAGTG	0.562000														20			26		0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215301392	215301392	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:215301392G>A	uc002vet.2	+	2	560	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	VWC2L_uc010zjl.1_Intron	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	144	VWFC 2.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						GCCCAGCAATGAAGTTCACTG	0.443000														47			12		0	0	1	0	0
C1orf88	128344	broad.mit.edu	37	1	111889590	111889591	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111889590_111889591CC>TT	uc001eaw.2	+	1	158_159	c.78_79CC>TT	c.(76-81)ttccat>ttTTat	p.H27Y	C1orf88_uc001eax.2_Missense_Mutation_p.H27Y|C1orf88_uc009wge.1_Missense_Mutation_p.H27Y	NM_181643	NP_857594	Q8TCI5	CA088_HUMAN	Homo sapiens chromosome 1 open reading frame 88 (C1orf88), mRNA.	27										breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)	14		all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135)		TTCCTCACTTCCATCCCCCGAA	0.490000														70			25		0	0	1	0	0
WFDC10B	280664	broad.mit.edu	37	20	44333610	44333610	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44333610C>T	uc002xpc.3	-	0	49	c.21G>A	c.(19-21)agG>agA	p.R7R	WFDC10B_uc002xpb.3_5'UTR|WFDC13_uc002xpd.3_Intron	NM_172131	NP_742143	Q8IUB3	WF10B_HUMAN	Homo sapiens WAP four-disulfide core domain 10B (WFDC10B), transcript variant 2, mRNA.	0						extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				TTTTGCTTGCCCTCCTTTCAC	0.483000														157			40		0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137627780	137627780	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:137627780G>A	uc003lcs.1	-	7	1075	c.875C>T	c.(874-876)tCc>tTc	p.S292F	CDC25C_uc003lcp.1_Missense_Mutation_p.S214F|CDC25C_uc003lcq.1_Missense_Mutation_p.S141F|CDC25C_uc003lcr.1_Missense_Mutation_p.S214F|CDC25C_uc011cyp.1_Missense_Mutation_p.S231F	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	214					DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATCGACGGGGAGCGATATAG	0.438000														133			59		0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168479715	168479715	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:168479715G>A	uc003qwo.4	-	0	125	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	20						cytoskeleton	binding	p.T19M(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTGAAGGAGGGAACGTGTCAG	0.662000														37			15		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543009	28543009	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28543009G>A	uc003nlo.3	-	2	2091	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	491	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AGTGTGATGAGTTGTTAGTTT	0.433000														104			48		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278822	152278822	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152278822G>A	uc001ezu.1	-	2	8576	c.8540C>T	c.(8539-8541)tCa>tTa	p.S2847L		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2847	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGTCTCCTGATTGTTCCTC	0.567000									Ichthyosis					697			101		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64594815	64594815	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64594815G>A	uc001obs.4	-	32	4206	c.4206C>T	c.(4204-4206)ttC>ttT	p.F1402F		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1402					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						TCTTGGTGCGGAACAGCTGGC	0.652000														121			27		0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013066	142013066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142013066C>T	uc003vxg.3	+	0	60	c.31C>T	c.(31-33)Ctc>Ttc	p.L11F	TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTGTGCGGTTCTCTGTCTCCT	0.592000														57			32		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23713758	23713758	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23713758C>T	uc002dma.4	-	9	1347	c.1178G>A	c.(1177-1179)aGa>aAa	p.R393K	ERN2_uc010bxp.3_Missense_Mutation_p.R393K|ERN2_uc010bxq.1_Missense_Mutation_p.R201K	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	345					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGAGGGGTATCTAACAGCAGT	0.582000														140			51		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14465696	14465696	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:14465696C>T	uc003jff.3	+	36	5716	c.5710C>T	c.(5710-5712)Ccg>Tcg	p.P1904S	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.P1553S	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1904					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTCCGAAACACCGAGTGCAGC	0.517000														97			11		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65789011	65789011	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65789011C>T	uc001ogt.3	-	3	1785	c.1647G>A	c.(1645-1647)aaG>aaA	p.K549K		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	549					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCCGCAGGCTCTTGAAGACCT	0.612000														28			7		0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113059742	113059742	+	Splice_Site	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:113059742G>C	uc001ecb.3	+	4	1197	c.682_splice	c.e4-1	p.A228_splice	WNT2B_uc001eca.3_Splice_Site_p.A209_splice|WNT2B_uc009wgg.3_Splice_Site_p.A136_splice	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA.	228					Wnt receptor signaling pathway, calcium modulating pathway|chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTCCCCCAGGCTGTGCGGC	0.567000														70			20		0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49206576	49206576	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49206576G>A	uc002pke.4	+	1	474	c.363G>A	c.(361-363)agG>agA	p.R121R	FUT2_uc010emc.3_Silent_p.R121R|FUT2_uc021uwx.1_Silent_p.R121R	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA.	121					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CGGCCAGCAGGATCCCCTGGC	0.657000														53			28		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38646287	38646287	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38646287G>A	uc021wvo.1	-	9	1503	c.1451C>T	c.(1450-1452)tCa>tTa	p.S484L	SCN5A_uc021wvk.1_Missense_Mutation_p.S484L|SCN5A_uc021wvl.1_Missense_Mutation_p.S484L|SCN5A_uc021wvm.1_Missense_Mutation_p.S484L|SCN5A_uc021wvn.1_Missense_Mutation_p.S484L|SCN5A_uc021wvp.1_Missense_Mutation_p.S484L|SCN5A_uc021wvq.1_Missense_Mutation_p.S484L|SCN5A_uc021wvr.1_Missense_Mutation_p.S484L|SCN5A_uc021wvs.1_Missense_Mutation_p.S484L|SCN5A_uc021wvt.1_Missense_Mutation_p.S484L|SCN5A_uc021wvu.1_Missense_Mutation_p.S484L|SCN5A_uc021wvv.1_Missense_Mutation_p.S484L|SCN5A_uc021wvj.1_Missense_Mutation_p.S350L|SCN5A_uc021wvi.1_Missense_Mutation_p.S350L|SCN5A_uc021wvw.1_Missense_Mutation_p.S95L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	484					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCAGTTCCTGAAGACATCCG	0.542000														42			8		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7439304	7439304	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7439304C>T	uc001mfe.3	+	4	1519	c.1282C>T	c.(1282-1284)Cct>Tct	p.P428S	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	428	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTTTGATGTCCCTCCCGAGAA	0.478000														77			17		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227985818	227985818	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:227985818C>T	uc021vxr.1	-	3	340	c.239G>A	c.(238-240)gGa>gAa	p.G80E	COL4A4_uc021vxs.1_Missense_Mutation_p.G80E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	80	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCTGGGGCTCCCAGGGGTCC	0.547000														45			11		0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100155173	100155173	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:100155173G>A	uc001dsg.3	+	6	1800	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	453	Poly-Glu.				regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		TGAGGAGGAGGAGGATGAAGG	0.483000														59			21		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906683	164906683	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:164906683G>A	uc003fej.4	-	1	2380	c.1936C>T	c.(1936-1938)Cct>Tct	p.P646S	SLITRK3_uc003fek.3_Missense_Mutation_p.P646S|SLITRK3_uc021xgy.1_Missense_Mutation_p.P646S	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	646						integral to membrane		p.P646H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCCCCAGGAGGAGAAAACTCA	0.532000										HNSCC(40;0.11)				27			10		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17809054	17809054	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:17809054G>A	uc003ncg.4	-	17	2268	c.2108C>T	c.(2107-2109)aCc>aTc	p.T703I	KIF13A_uc003ncf.3_Missense_Mutation_p.T703I|KIF13A_uc003nch.4_Missense_Mutation_p.T703I|KIF13A_uc003nci.4_Missense_Mutation_p.T703I	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	703					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTGGTAATCGGTGAGTTTGCT	0.473000														29			11		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25785868	25785868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:25785868C>T	uc003gru.4	-	13	2414	c.2262G>A	c.(2260-2262)atG>atA	p.M754I	SEL1L3_uc003grv.3_Missense_Mutation_p.M161I	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	754						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTGCTTTCTTCATCAGCTCTA	0.443000														145			80		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113527243	113527243	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:113527243G>A	uc003iau.3	-	8	2934	c.2723C>T	c.(2722-2724)tCt>tTt	p.S908F	C4orf21_uc003iaw.3_Missense_Mutation_p.S908F	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	908										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCCCGAGGAAGAGAACTAGGA	0.323000														69			31		0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3654066	3654066	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3654066G>A	uc002wit.3	-	10	1155	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	ADAM33_uc002wir.1_Silent_p.D356D|ADAM33_uc002wis.3_5'UTR|ADAM33_uc002wiu.3_Silent_p.D356D|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Silent_p.D368D|ADAM33_uc010zqh.1_Missense_Mutation_p.T382I	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	356	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						AGCCGTCGGGGTCGTGGCTGA	0.766000														5			5		0	0	1	0	0
RPL13AP3	645683	broad.mit.edu	37	14	56233097	56233097	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:56233097G>A	uc010aos.3	+	0		c.135G>A								Homo sapiens ribosomal protein L13a pseudogene 3 (RPL13AP3), non-coding RNA.																		AACCCTTTTCGAAGCGCCTAC	0.572000														18			7		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11630225	11630225	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:11630225G>A	uc021zzo.1	-	3	1567	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	THSD7A_uc021zzn.1_Missense_Mutation_p.P439S	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	439	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGAGCAAAGGGTCCACACGG	0.537000										HNSCC(18;0.044)				26			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179571363	179571363	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179571363G>A	uc021vsy.1	-	98	25731	c.25506C>T	c.(25504-25506)ttC>ttT	p.F8502F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F5163F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9429	Ig-like 67.						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)			TTTGGTGGATGAAAACACGAC	0.453000														185			36		0	0	1	0	0
IL1RN	3557	broad.mit.edu	37	2	113890437	113890437	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113890437G>A	uc002tjb.3	+	3	587	c.523G>A	c.(523-525)Gag>Aag	p.E175K	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Missense_Mutation_p.E178K|IL1RN_uc002tiy.3_Missense_Mutation_p.E141K|IL1RN_uc002tja.3_Missense_Mutation_p.E157K	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	175					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	CTACTTCCAGGAGGACGAGTA	0.612000									Lichen Sclerosis et Atrophicus, Familial Clustering of					99			11		0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87913508	87913508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87913508C>T	uc022agz.1	-	2	300	c.77G>A	c.(76-78)gGa>gAa	p.G26E	STEAP4_uc003ujs.3_Missense_Mutation_p.G26E|STEAP4_uc010lek.3_Missense_Mutation_p.G26E	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	26					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ATCACCAGTTCCAAAAATACA	0.383000														78			16		0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160431725	160431725	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:160431725C>T	uc003qta.3	+	3	569	c.421C>T	c.(421-423)Cct>Tct	p.P141S		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	141					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATAGGGAACTCCTGAATTTGT	0.333000														34			21		0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98715483	98715483	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98715483C>T	uc001kmu.2	+	7	1669	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	C10orf12_uc001kmr.3_Missense_Mutation_p.S369F|C10orf12_uc001kms.2_Missense_Mutation_p.S369F|C10orf12_uc009xvg.2_Intron|C10orf12_uc021pwp.1_Missense_Mutation_p.S109F	NM_032440	NP_115816	Q8N655	CJ012_HUMAN	Homo sapiens ligand dependent nuclear receptor corepressor (LCOR), transcript variant 1, mRNA.	663										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ATGAGTGTTTCCAAAGCTCAG	0.438000														40			26		0	0	1	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29736612	29736612	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:29736612C>T	uc003tai.3	+	4		c.431C>T								Homo sapiens dpy-19-like 2 pseudogene 3 (C. elegans) (DPY19L2P3), transcript variant 1, non-coding RNA.																		GAAAGTTTTTCCTATCCATTT	0.313000														32			10		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200943915	200943915	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:200943915C>T	uc001gvs.2	-	33	5058	c.4741G>A	c.(4741-4743)Ggt>Agt	p.G1581S	KIF21B_uc009wzl.2_Missense_Mutation_p.G1581S|KIF21B_uc001gvr.2_Missense_Mutation_p.G1568S|KIF21B_uc010ppn.2_Missense_Mutation_p.G1568S	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1581					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTGATCTCACCGATGGGTGTG	0.612000														82			42		0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148768966	148768966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:148768966G>A	uc003wfh.2	-	3	1035	c.898C>T	c.(898-900)Cca>Tca	p.P300S	ZNF786_uc011kuk.1_Missense_Mutation_p.P263S|ZNF786_uc003wfi.2_Missense_Mutation_p.P214S	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTGCCGCATGGGGTGCACTGG	0.706000														23			8		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77409717	77409717	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:77409717G>A	uc001oyn.3	-	6	2650	c.2530C>T	c.(2530-2532)Cga>Tga	p.R844*	RSF1_uc001oym.3_Nonsense_Mutation_p.R592*	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	844					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	p.R844*(2)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CCAGTCCATCGAACTTTGCCT	0.368000														154			38		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595369	55595369	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55595369C>T	uc001nhy.1	+	0	675	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCACCACTATCCTGAAGATAC	0.483000										HNSCC(27;0.073)				103			45		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140174721	140174721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140174721G>A	uc003lhd.2	+	0	278	c.172G>A	c.(172-174)Gag>Aag	p.E58K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E58K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E58K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	71	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGAGGAGCTGGTGCC	0.632000														135			76		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115341719	115341719	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115341719A>T	uc001lai.4	+	8	1026	c.923A>T	c.(922-924)gAg>gTg	p.E308V	HABP2_uc021pyr.1_Missense_Mutation_p.E282V|HABP2_uc010qrz.1_Intron	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	308					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		GAGATAGCAGAGAGGAAGATC	0.557000														124			46		0	0	1	0	0
SHF	90525	broad.mit.edu	37	15	45491118	45491118	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45491118G>A	uc001zuy.3	-	1	650	c.155C>T	c.(154-156)cCc>cTc	p.P52L	TRNA_uc021skk.1_5'Flank|TRNA_uc021skl.1_5'Flank	NM_138356	NP_612365	B3KTY1	B3KTY1_HUMAN	Homo sapiens Src homology 2 domain containing F (SHF), mRNA.	52										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GGAGTTTAGGGGAGACGGCGT	0.602000											OREG0023105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			14		0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3211823	3211823	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3211823G>A	uc010zqe.2	-	8	1268	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	SLC4A11_uc002wig.3_Silent_p.F354F|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.F338F	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	354	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGTACAAGGGGAACCTGCGTG	0.602000														145			41		0	0	1	0	0
PMCH	5367	broad.mit.edu	37	12	102591323	102591323	+	Missense_Mutation	SNP	C	T	T	rs141964854		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:102591323C>T	uc001tjl.3	-	0	292	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_002674	NP_002665	P20382	MCH_HUMAN	Homo sapiens pro-melanin-concentrating hormone (PMCH), mRNA.	76					cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission		melanin-concentrating hormone activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						TTTTCCTCTTCGTTCATGAAA	0.348000														84			24		0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116811507	116811507	+	Missense_Mutation	SNP	C	T	T	rs141487834	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116811507C>T	uc004bid.3	+	14	2024	c.1925C>T	c.(1924-1926)tCg>tTg	p.S642L	ZNF618_uc004bic.3_Missense_Mutation_p.S549L|ZNF618_uc011lxi.2_Missense_Mutation_p.S609L|ZNF618_uc011lxj.2_Missense_Mutation_p.S610L|ZNF618_uc010mvb.3_Missense_Mutation_p.S232L	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GCCTTGAACTCGGTGGTGCAG	0.642000														57			7		0	0	1	0	0
PPM1B	5495	broad.mit.edu	37	2	44429000	44429000	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:44429000C>T	uc002rtt.3	+	1	1090	c.662C>T	c.(661-663)tCt>tTt	p.S221F	PPM1B_uc002rts.3_Missense_Mutation_p.S221F|PPM1B_uc002rtu.3_Missense_Mutation_p.S221F|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Missense_Mutation_p.S221F|PPM1B_uc002rtx.3_Missense_Mutation_p.S221F	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	221					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAACTTGTTTCTCCAGAGCCT	0.423000														58			24		0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	20003140	20003140	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:20003140C>T	uc002noj.3	+	3	1176	c.1084C>T	c.(1084-1086)Cat>Tat	p.H362Y	ZNF253_uc002nok.3_Missense_Mutation_p.H286Y|ZNF253_uc002nol.3_Non-coding_Transcript	NM_021047	NP_066385	O75346	ZN253_HUMAN	Homo sapiens zinc finger protein 253 (ZNF253), mRNA.	362				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAAGATACTTCATACTGGAGA	0.383000														90			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070072	9070073	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9070072_9070073CC>TT	uc002mkp.3	-	2	17577_17578	c.17373_17374GG>AA	c.(17371-17376)gaggag>gaAAag	p.E5792K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5794	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						GTGTTGATCTCCTCAGACGTCC	0.460000														51			25		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54784155	54784155	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54784155C>T	uc002qfb.3	-	3	301	c.35_splice	c.e3-1	p.G12_splice	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Splice_Site_p.G12_splice|LILRB2_uc010erj.3_Splice_Site|LILRB2_uc002qfc.3_Splice_Site_p.G12_splice|LILRB2_uc010yet.2_Intron|LILRB2_uc010yeu.1_Splice_Site|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	12					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGACTCAGCCCTGGAAGAGAG	0.647000														115			8		0	0	1	0	0
VCX3B	425054	broad.mit.edu	37	X	8434313	8434313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:8434313G>A	uc011mht.2	+	2	937	c.630G>A	c.(628-630)atG>atA	p.M210I	VCX3B_uc004csd.1_Missense_Mutation_p.M160I|VCX3B_uc022bsj.1_5'Flank	NM_001001888	NP_001001888	Q9H321	VCX3B_HUMAN	Homo sapiens variable charge, X-linked 3B (VCX3B), mRNA.	210	11 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						AGAGCGAGATGGAAGAACCAC	0.562000														195			41		0	0	1	0	0
T	6862	broad.mit.edu	37	6	166581001	166581001	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:166581001C>T	uc003qut.1	-	0	365	c.79G>A	c.(79-81)Gag>Aag	p.E27K	T_uc003quu.1_Missense_Mutation_p.E27K|T_uc003quv.1_Missense_Mutation_p.E27K	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	27					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GCCTGCAGCTCATTCTCCACG	0.682000									Chordoma, Familial Clustering of					9			7		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41949551	41949551	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:41949551C>T	uc010skn.2	+	6	1362	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	PDZRN4_uc001rmq.4_Missense_Mutation_p.R194W|PDZRN4_uc009zjz.3_Missense_Mutation_p.R192W|PDZRN4_uc001rmr.3_Missense_Mutation_p.R79W	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	452	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGAAGGGGATCGGATTTTGCA	0.408000														106			19		0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110494919	110494919	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:110494919C>T	uc004epc.2	-	5	942	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	CAPN6_uc011msu.2_5'UTR	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	251	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TAGGTATGGCCCTTCAGCAGA	0.448000														110			141		0	0	1	0	0
WHAMM	123720	broad.mit.edu	37	15	83499498	83499498	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83499498C>T	uc002bje.3	+	8	2295	c.1789C>T	c.(1789-1791)Ccc>Tcc	p.P597S		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules (WHAMM), mRNA.	597						ER-Golgi intermediate compartment|Golgi apparatus|cytoplasmic vesicle membrane	actin binding			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						TAGAGGTGTTCCCCTATCGGA	0.488000														75			26		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141660725	141660725	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141660725G>A	uc002tvj.1	-	22	4502	c.3530C>T	c.(3529-3531)tCg>tTg	p.S1177L	LRP1B_uc010fnl.1_Missense_Mutation_p.S359L	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1177					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTGTTCAGCGAACACTCATC	0.393000										TSP Lung(27;0.18)				51			28		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87373272	87373272	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:87373272G>A	uc001kdl.1	-	14	2594	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Silent_p.F402F	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	831						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGACCCCGGCGAAGCTGTGCA	0.652000										Multiple Myeloma(13;0.14)				51			21		0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128775310	128775310	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:128775310G>A	uc010fmd.2	-	2	502	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S	SAP130_uc002tpp.2_Missense_Mutation_p.P124S|SAP130_uc002tpq.1_Missense_Mutation_p.P98S	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	124	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGTGCTGGCGGGGCTGTCACT	0.537000														75			8		0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89844102	89844102	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:89844102G>A	uc001dnf.2	+	4	829	c.555G>A	c.(553-555)ctG>ctA	p.L185L	GBP6_uc010ost.1_Silent_p.L55L	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	185							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ATTTCACTCTGGAGCTGAAGT	0.483000														102			31		0	0	1	0	0
SLC16A3	9123	broad.mit.edu	37	17	80195264	80195264	+	Silent	SNP	G	A	A	rs5822442		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:80195264G>A	uc002kea.3	+	3	768	c.618G>A	c.(616-618)ccG>ccA	p.P206P	SLC16A3_uc021ufm.1_Silent_p.P206P|SLC16A3_uc002keb.3_Silent_p.P206P|SLC16A3_uc002kec.3_Silent_p.P206P|SLC16A3_uc002ked.3_Silent_p.P206P|SLC16A3_uc021ufn.1_Silent_p.P206P|SLC16A3_uc021ufo.1_Silent_p.P206P	NM_001042422	NP_004198	O15427	MOT4_HUMAN	Homo sapiens solute carrier family 16, member 3 (monocarboxylic acid transporter 4) (SLC16A3), transcript variant 2, mRNA.	206					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	CGGCCCAGCCGGGCTCGGGGC	0.721000														6			3		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936471	4936471	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4936471G>A	uc001lzr.1	-	0	423	c.423C>T	c.(421-423)ctC>ctT	p.L141L		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTGTTGGTGAGAATGGAAA	0.478000														52			12		0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177034349	177034349	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:177034349G>A	uc002ukt.1	+	1	683	c.507G>A	c.(505-507)caG>caA	p.Q169Q		NM_006898	NP_008829	P31249	HXD3_HUMAN	Homo sapiens homeobox D3 (HOXD3), mRNA.	169					Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		AGTCTCGACAGAACTCCAAGC	0.572000														111			52		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1544488	1544488	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1544488C>T	uc002qwr.3	+	15	2827	c.2741C>T	c.(2740-2742)tCg>tTg	p.S914L	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.S914L|TPO_uc002qwx.3_Missense_Mutation_p.S857L|TPO_uc002qwu.3_Missense_Mutation_p.S857L|TPO_uc010yio.2_Missense_Mutation_p.S741L|TPO_uc010yip.2_Missense_Mutation_p.S870L|TPO_uc002qwy.1_Missense_Mutation_p.S210L|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	914					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCTCAGGACTCGGAGCAGGTG	0.652000														45			21		0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145895603	145895603	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:145895603C>T	uc003lod.1	-	0	74	c.74G>A	c.(73-75)gGa>gAa	p.G25E		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	25						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGTACCCTCCGGCAAAGTG	0.542000														150			14		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55421032	55421032	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55421032C>T	uc001sgp.4	+	1	1187	c.809C>T	c.(808-810)tCt>tTt	p.S270F	NEUROD4_uc021qyr.1_Missense_Mutation_p.S270F	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	270					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CAAGATGGGTCTCCTGACCTA	0.522000														172			50		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218305	130218305	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:130218305G>A	uc004evz.3	+	4	1017	c.672G>A	c.(670-672)agG>agA	p.R224R	ARHGAP36_uc004ewa.3_Silent_p.R212R|ARHGAP36_uc004ewb.3_Silent_p.R193R|ARHGAP36_uc004ewc.3_Silent_p.R88R	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	224					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GATCCAAAAGGAAGATGAGTC	0.478000														12			26		0	0	1	0	0
SLC22A5	6584	broad.mit.edu	37	5	131729429	131729429	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:131729429C>T	uc003kwx.4	+	9	1848	c.1584C>T	c.(1582-1584)atC>atT	p.I528I	SLC22A5_uc003kww.4_Silent_p.I504I|SLC22A5_uc010jdr.1_Silent_p.I124I	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	504					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|PDZ domain binding|carnitine transporter activity|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TGACAGCCATCCTCACCTTGT	0.552000														183			86		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333092	70333092	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70333092G>T	uc001oqc.3	-	20	3220	c.3108C>A	c.(3106-3108)ttC>ttA	p.F1036L	SHANK2_uc010rqn.2_Missense_Mutation_p.F512L|SHANK2_uc001opz.3_Missense_Mutation_p.F507L|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	723					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTGTGGAGAGGAAGGCCGGGG	0.692000														42			19		4.96729e-08	4.98116e-08	1	1	0
PIP5K1B	8395	broad.mit.edu	37	9	71532629	71532629	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:71532629G>A	uc004agu.3	+	8	1242	c.937G>A	c.(937-939)Ggt>Agt	p.G313S	PIP5K1B_uc011lrq.2_Missense_Mutation_p.G313S|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	313	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		ATCTATCCAGGGTCCAGGGAA	0.527000														94			24		0	0	1	0	0
HOXC10	3226	broad.mit.edu	37	12	54379177	54379177	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54379177G>A	uc001sen.3	+	0	232	c.134G>A	c.(133-135)aGg>aAg	p.R45K		NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	Homo sapiens homeobox C10 (HOXC10), mRNA.	45					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R45K(2)		endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						GGGGTGATGAGGGGCTGCGGG	0.662000														58			13		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170805228	170805228	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:170805228G>A	uc003fhh.2	-	23	3134	c.2789C>T	c.(2788-2790)cCt>cTt	p.P930L	TNIK_uc003fhi.2_Missense_Mutation_p.P875L|TNIK_uc003fhj.2_Missense_Mutation_p.P901L|TNIK_uc003fhk.2_Missense_Mutation_p.P922L|TNIK_uc003fhl.2_Missense_Mutation_p.P846L|TNIK_uc003fhm.2_Missense_Mutation_p.P867L|TNIK_uc003fhn.2_Missense_Mutation_p.P893L|TNIK_uc003fho.2_Missense_Mutation_p.P838L|TNIK_uc003fhg.2_Missense_Mutation_p.P108L	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	930	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CACCAGGTCAGGGAGGTTGAT	0.587000														82			28		0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14504625	14504625	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:14504625G>A	uc001mlh.2	-	7	1156	c.910C>T	c.(910-912)Cgc>Tgc	p.R304C	COPB1_uc001mli.2_Missense_Mutation_p.R304C|COPB1_uc001mlg.2_Missense_Mutation_p.R304C	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	304					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TCTATCAAGCGATCCAAAACT	0.308000														45			19		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942442	144942442	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144942442C>T	uc003zaa.1	-	0	4993	c.4980G>A	c.(4978-4980)caG>caA	p.Q1660Q		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1660						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAGGGAGATCTGCTGCCCGG	0.642000														74			34		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50610836	50610836	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:50610836G>A	uc001csb.2	+	1	485	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	ELAVL4_uc001cry.3_Missense_Mutation_p.E76K|ELAVL4_uc001crz.3_Missense_Mutation_p.E73K|ELAVL4_uc001csa.3_Missense_Mutation_p.E90K|ELAVL4_uc001csc.3_Missense_Mutation_p.E73K|ELAVL4_uc009vyu.3_Missense_Mutation_p.E78K|ELAVL4_uc010omz.2_Missense_Mutation_p.E78K	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	73	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TGGTGAAATAGAATCCTGCAA	0.413000														96			23		0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39890852	39890852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39890852C>T	uc002hxm.1	-	0	47	c.35G>A	c.(34-36)gGg>gAg	p.G12E	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.G12E|HAP1_uc002hxo.1_Missense_Mutation_p.G12E|HAP1_uc002hxp.1_Missense_Mutation_p.G12E	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	12					brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GAGCCGGCTCCCCGCGCAGCA	0.736000														5			3		0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	136974658	136974658	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:136974658G>A	uc010jek.3	-	9	1647	c.1203C>T	c.(1201-1203)ggC>ggT	p.G401G	KLHL3_uc011cyc.2_Silent_p.G170G|KLHL3_uc003lbr.4_Silent_p.G319G|KLHL3_uc011cyd.2_Intron|KLHL3_uc010jel.1_Silent_p.G170G|KLHL3_uc010jem.1_Silent_p.G361G	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	401						cytoplasm|cytoskeleton	actin binding|structural molecule activity	p.G401G(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TGCCATCAAAGCCTCCCACTG	0.582000														21			8		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36269678	36269678	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:36269678C>T	uc010jwf.2	+	5	816	c.816C>T	c.(814-816)ttC>ttT	p.F272F	PNPLA1_uc010jwe.1_Silent_p.F186F|PNPLA1_uc003olw.1_Silent_p.F177F	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	272					lipid catabolic process		hydrolase activity	p.L271P(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GAGTGATTTTCCCCCGGGTGG	0.517000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			27		0	0	1	0	0
MIR205HG	642587	broad.mit.edu	37	1	209602708	209602708	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:209602708C>T	uc009xcn.3	+	1	449	c.66C>T	c.(64-66)gtC>gtT	p.V22V	MIR205HG_uc010psk.2_5'Flank	NM_001104548	NP_001098018			Homo sapiens MIR205 host gene (non-protein coding) (MIR205HG), mRNA.																		CCTCAGGAGTCATTTCTGTTC	0.488000														21			5		0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74308080	74308080	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:74308080C>T	uc003hgz.1	+	4	597	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	AFP_uc011cbg.1_5'UTR	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	184	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGGGCTGCTCGCTATGACAA	0.373000									Alpha-Fetoprotein, Hereditary Persistence of					63			13		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68649559	68649559	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:68649559C>T	uc010bib.3	-	6	766	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	ITGA11_uc002ari.3_Missense_Mutation_p.E227K	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	227	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CTGGCAGCTTCCACCACATCT	0.468000														46			39		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56083794	56083794	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:56083794G>A	uc010giw.1	-	8	1653	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	CTCFL_uc010gix.1_Silent_p.F514F|CTCFL_uc002xym.2_Silent_p.F514F|CTCFL_uc010gjb.1_Silent_p.F514F|CTCFL_uc010gja.1_Silent_p.F464F|CTCFL_uc010gjc.1_Silent_p.F514F|CTCFL_uc010gjd.1_Silent_p.F514F|CTCFL_uc010gje.3_Silent_p.F514F|CTCFL_uc010gjg.3_Silent_p.F246F|CTCFL_uc010gjf.3_Silent_p.F309F|CTCFL_uc010gjh.2_Silent_p.F370F|CTCFL_uc010gji.2_Silent_p.F309F|CTCFL_uc010gjj.2_Silent_p.F514F|CTCFL_uc010giu.3_5'Flank|CTCFL_uc010giv.3_5'Flank	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	514					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AAAGGCAGGTGAATGGTTTCT	0.438000														98			34		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103324856	103324856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103324856G>A	uc002tca.3	+	11	2489	c.2347G>A	c.(2347-2349)Gaa>Aaa	p.E783K		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	783						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CAGTTTGACTGAAGGCATCCC	0.577000														119			36		0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223465828	223465828	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:223465828C>T	uc001hnx.3	-	1	948	c.314G>A	c.(313-315)gGa>gAa	p.G105E	SUSD4_uc001hny.4_Missense_Mutation_p.G105E|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Missense_Mutation_p.G105E|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	105	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GCCTAGGGTTCCATTAAAATG	0.478000														146			65		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101198189	101198189	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:101198189G>A	uc001dti.3	+	6	1962	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	VCAM1_uc010ouj.2_Missense_Mutation_p.G519R|VCAM1_uc001dtj.3_Missense_Mutation_p.G489R	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	581	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTTATGTGAAGGAATTAACCA	0.413000														137			55		0	0	1	0	0
NBR1	4077	broad.mit.edu	37	17	41342735	41342735	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:41342735C>T	uc010whv.2	+	8	888	c.805C>T	c.(805-807)Ccg>Tcg	p.P269S	NBR1_uc010czd.3_Missense_Mutation_p.P269S|NBR1_uc010diz.3_Missense_Mutation_p.P269S|NBR1_uc010whu.2_Missense_Mutation_p.P269S|NBR1_uc010whw.2_Missense_Mutation_p.P248S|NBR1_uc010whx.1_Missense_Mutation_p.P78S	NM_005899	NP_114068	Q14596	NBR1_HUMAN	Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 1, mRNA.	269					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CTCCTCTGAACCGTTCTGTCA	0.478000														16			15		0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17543308	17543308	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:17543308C>T	uc003ncb.3	+	10	1386	c.1143C>T	c.(1141-1143)ctC>ctT	p.L381L	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Silent_p.L355L|CAP2_uc011djb.2_Silent_p.L317L|CAP2_uc011djc.2_Silent_p.L269L|CAP2_uc011djd.2_Silent_p.L121L	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	381	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GTAAAAAACTCGGCCTGGTGT	0.403000														158			74		0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53708591	53708591	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53708591G>A	uc001scr.4	-	5	652	c.489C>T	c.(487-489)acC>acT	p.T163T	AAAS_uc001scs.4_Intron	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	163					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CAAACTTGTTGGTGTGGGGGT	0.542000														19			7		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158618317	158618317	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158618317G>A	uc001fst.1	-	25	3895	c.3696C>T	c.(3694-3696)ctC>ctT	p.L1232L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1232					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGGGGTACGAGGTCCCTTT	0.498000														51			56		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847868	123847869	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123847868_123847869GG>AA	uc001pzm.1	-	0	530_531	c.530_531CC>TT	c.(529-531)acc>aTT	p.T177I		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCAGGCGGAAGGTGAGGGAGGT	0.559000														67			7		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107416969	107416969	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107416969C>T	uc003ver.2	-	14	1816	c.1605G>A	c.(1603-1605)gtG>gtA	p.V535V	SLC26A3_uc003ves.2_Silent_p.V500V	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	535	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TGAAAATTTTCACTCCTTCTG	0.358000														91			23		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204948579	204948579	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204948579C>T	uc010prc.2	+	17	2298	c.769C>T	c.(769-771)Ctc>Ttc	p.L257F	NFASC_uc001hbj.3_Missense_Mutation_p.L690F|NFASC_uc010pra.2_Missense_Mutation_p.L686F|NFASC_uc001hbi.3_Missense_Mutation_p.L686F|NFASC_uc010prb.2_Missense_Mutation_p.L701F|NFASC_uc001hbk.1_Missense_Mutation_p.L496F|NFASC_uc001hbl.2_5'Flank			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	690	Ig-like C2-type 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCAGCCGTCCTCCGGCTGTC	0.587000														150			36		0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117311310	117311310	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:117311310C>T	uc001egu.4	+	4	990	c.961C>T	c.(961-963)Cac>Tac	p.H321Y		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	321	Pro-rich.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CACACAAGTTCACCAGCAGAA	0.582000														163			62		0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99358502	99358502	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99358502C>T	uc003urv.2	-	11	1463	c.1356G>A	c.(1354-1356)atG>atA	p.M452I	CYP3A4_uc003urw.2_Missense_Mutation_p.M451I|CYP3A4_uc011kiz.2_Missense_Mutation_p.M411I	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	452					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	GAGCAAGTTTCATGTTCATGA	0.363000														147			65		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104057386	104057386	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:104057386G>T	uc003hxb.1	-	39	6524	c.6434C>A	c.(6433-6435)cCc>cAc	p.P2145H	CENPE_uc003hxc.1_Missense_Mutation_p.P2024H	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	2145	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGTAAATAGGGAAGTGAGAG	0.358000														105			47		1.06522e-23	1.07156e-23	1	1	0
RICTOR	253260	broad.mit.edu	37	5	38950815	38950815	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38950815G>A	uc003jlo.2	-	30	3157	c.3135C>T	c.(3133-3135)ttC>ttT	p.F1045F	RICTOR_uc003jlp.2_Silent_p.F1045F|RICTOR_uc010ivf.2_Silent_p.F760F	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1045	Ser-rich.				T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CCTCCAATATGAACATACCTA	0.333000														66			29		0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32332505	32332505	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:32332505G>A	uc001utt.3	+	1	276	c.205G>A	c.(205-207)Gat>Aat	p.D69N	RXFP2_uc010aba.3_Missense_Mutation_p.D69N	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	69	LDL-receptor class A.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGATGGCAAGGATGACTGTGG	0.522000														129			46		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469108	10469108	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10469108C>T	uc003wtc.3	-	3	2729	c.2500G>A	c.(2500-2502)Gcc>Acc	p.A834T		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	834					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)		GCCTCTTGGGCCGGCTGCGTC	0.721000														9			6		0	0	1	0	0
RGS1	5996	broad.mit.edu	37	1	192544995	192544995	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:192544995G>A	uc001gsi.1	+	0	139	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	RGS1_uc010pou.1_Missense_Mutation_p.E25K	NM_002922	NP_002913	Q08116	RGS1_HUMAN	Homo sapiens regulator of G-protein signaling 1 (RGS1), mRNA.	25					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TAACCCAAAGGAATTGAAAGG	0.418000														50			23		0	0	1	0	0
FCGRT	2217	broad.mit.edu	37	19	50017667	50017667	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50017667C>T	uc002pog.2	+	2	747	c.525C>T	c.(523-525)ctC>ctT	p.L175L	FCGRT_uc002poe.2_Silent_p.L175L|FCGRT_uc002pof.2_Silent_p.L80L|FCGRT_uc010yax.2_Silent_p.L175L|FCGRT_uc002poh.2_Silent_p.L35L	NM_004107	NP_004098	P55899	FCGRN_HUMAN	Homo sapiens Fc fragment of IgG, receptor, transporter, alpha (FCGRT), transcript variant 2, mRNA.	175	Alpha-2.				antigen processing and presentation|female pregnancy|immune response	MHC class I protein complex|integral to membrane	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		ACAAGGAGCTCACCTTCCTGC	0.667000														28			7		0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52826857	52826857	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52826857C>T	uc001saj.2	-	1	700	c.678G>A	c.(676-678)agG>agA	p.R226R		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	226	Coil 1B.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCTGCATGTTCCTCAGTTCAG	0.537000														77			34		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111779604	111779604	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:111779604G>A	uc001tsa.2	+	20	3560	c.3406G>A	c.(3406-3408)Ggc>Agc	p.G1136S		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1136						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ACGTCGCTATGGCCTCATCAG	0.642000														84			46		0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48823102	48823102	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48823102G>A	uc002isq.3	+	7	883	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	LUC7L3_uc010wmw.2_Missense_Mutation_p.E163K|LUC7L3_uc002isr.3_Missense_Mutation_p.E239K|LUC7L3_uc002iss.3_Missense_Mutation_p.E239K	NM_016424	NP_057508	O95232	LC7L3_HUMAN	Homo sapiens LUC7-like 3 (S. cerevisiae) (LUC7L3), transcript variant 1, mRNA.	239	Arg/Ser-rich.|Glu-rich.				RNA splicing|apoptosis|mRNA processing|response to stress	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						GAAAAGAACCGAAGAACCTGA	0.348000														49			6		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88658671	88658671	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:88658671G>A	uc001xwm.3	-	4	887	c.765C>T	c.(763-765)atC>atT	p.I255I	KCNK10_uc001xwn.3_Silent_p.I255I|KCNK10_uc001xwo.3_Silent_p.I250I	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	250					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						TGACAGCAGGGATCGTCACAA	0.502000														112			33		0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205069166	205069166	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205069166G>A	uc010prd.2	-	6	1165	c.884C>T	c.(883-885)tCt>tTt	p.S295F	RBBP5_uc010pre.2_Missense_Mutation_p.S133F|RBBP5_uc001hbu.2_Missense_Mutation_p.S260F|RBBP5_uc001hbv.2_Missense_Mutation_p.S260F	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.	260					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCCATCCCCAGAGAAACAACA	0.507000														75			25		0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60067763	60067763	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:60067763G>A	uc003jsi.4	-	3	422	c.222C>T	c.(220-222)ttC>ttT	p.F74F	ELOVL7_uc011cqo.2_Intron|ELOVL7_uc010iwk.3_Silent_p.F74F|ELOVL7_uc003jsj.4_Silent_p.F61F	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	74					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				AGAGTACTATGAAAAAATTGT	0.358000														30			14		0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61257301	61257301	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:61257301G>A	uc001nru.2	+	11	1223	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	PPP1R32_uc009ynq.2_Missense_Mutation_p.R344Q	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 32 (PPP1R32), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	364																	GGCTGGACTCGAGGTGGCATC	0.642000														34			14		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33412138	33412138	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:33412138G>A	uc021vft.1	+	5	1440	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R	LTBP1_uc002rou.3_Missense_Mutation_p.G147R|LTBP1_uc002rov.3_Missense_Mutation_p.G147R|LTBP1_uc010ymz.2_Missense_Mutation_p.G147R|LTBP1_uc010yna.2_Missense_Mutation_p.G147R	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	473					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAGCCAGCAAGGAGTCAAAGG	0.527000														55			15		0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115109849	115109849	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:115109849G>A	uc001tvt.1	-	7	2993	c.2029C>T	c.(2029-2031)Ctg>Ttg	p.L677L	TBX3_uc001tvu.1_Silent_p.L657L	NM_016569	NP_057653	O15119	TBX3_HUMAN	Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.	677	Transcription repression.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTGGCGGCCAGGGCGGCGACT	0.716000														5			4		0	0	1	0	0
CPNE1	8904	broad.mit.edu	37	20	34215285	34215285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34215285G>A	uc010zvj.2	-	13	1535	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F	CPNE1_uc002xde.3_Missense_Mutation_p.L361F|CPNE1_uc002xdf.3_Missense_Mutation_p.L385F|CPNE1_uc002xdi.3_Missense_Mutation_p.L385F|CPNE1_uc002xdj.3_Missense_Mutation_p.L385F|CPNE1_uc002xdl.3_Missense_Mutation_p.L385F|CPNE1_uc002xdm.3_Missense_Mutation_p.L385F	NM_003915	NP_690905	Q99829	CPNE1_HUMAN	Homo sapiens copine I (CPNE1), transcript variant 3, mRNA.	385	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGGCCATAGAGGCGAACTTGG	0.577000														64			25		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73474816	73474816	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:73474816C>T	uc003tzw.3	+	24	1841	c.1750C>T	c.(1750-1752)Cct>Tct	p.P584S	ELN_uc003tzn.3_Missense_Mutation_p.P578S|ELN_uc003tzy.3_Missense_Mutation_p.P554S|ELN_uc003tzz.3_Missense_Mutation_p.P497S|ELN_uc003tzo.3_Missense_Mutation_p.P530S|ELN_uc003tzp.3_Missense_Mutation_p.P489S|ELN_uc003tzq.3_Missense_Mutation_p.P442S|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.P559S|ELN_uc003tzt.3_Missense_Mutation_p.P583S|ELN_uc003tzu.3_Missense_Mutation_p.P564S|ELN_uc003tzv.3_Missense_Mutation_p.P549S|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.P568S|ELN_uc011kff.2_Missense_Mutation_p.P578S	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	607	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGCTGGTGTTCCTGGCTTCGG	0.627000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							52			27		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98355350	98355350	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98355350G>A	uc001kmq.3	-	16	2530	c.2402C>T	c.(2401-2403)cCa>cTa	p.P801L	PIK3AP1_uc001kmo.3_Missense_Mutation_p.P400L|PIK3AP1_uc001kmp.3_Missense_Mutation_p.P623L	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	801	Pro-rich.					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)		TCCTCTGGGTGGAACAGGTGG	0.428000														42			18		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705252	30705252	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:30705252C>T	uc003xil.3	-	0	1282	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	428										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGTTCATTTTCATTTTTCCTA	0.338000														151			41		0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170145770	170145770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:170145770G>A	uc003mas.3	+	2	632	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	KCNIP1_uc003map.3_Missense_Mutation_p.E33K|KCNIP1_uc003mat.3_Missense_Mutation_p.E24K|KCNIP1_uc010jjp.3_5'UTR|KCNIP1_uc010jjq.3_Missense_Mutation_p.E24K	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	35					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATAAGATTGAAGATGAGCT	0.517000														22			17		0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22675776	22675776	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:22675776C>T	uc001iri.3	+	4	733	c.566C>T	c.(565-567)tCg>tTg	p.S189L	SPAG6_uc010qct.2_Missense_Mutation_p.S164L|SPAG6_uc009xkh.3_Missense_Mutation_p.S167L|SPAG6_uc001irj.3_Missense_Mutation_p.S189L|SPAG6_uc021poe.1_5'UTR	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	189					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						ATTGCTGCTTCGGCCCTCAGT	0.483000														91			17		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47401236	47401236	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47401236C>T	uc001cqp.4	-	4	645	c.594G>A	c.(592-594)atG>atA	p.M198I	CYP4A11_uc001cqq.2_Missense_Mutation_p.M198I|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	198					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGGCACACTTCATGATGGTGT	0.572000														89			28		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074624	106074624	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106074624G>A	uc001kyf.3	-	2	1639	c.1186C>T	c.(1186-1188)Cta>Tta	p.L396L	ITPRIP_uc001kye.3_Silent_p.L396L|ITPRIP_uc001kyg.3_Silent_p.L396L|ITPRIP_uc021pxv.1_Silent_p.L396L	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	396						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						AGTGCCTTTAGTGTCGTCCTG	0.642000														63			16		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897018	36897018	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36897018G>A	uc003cgj.3	-	11	4311	c.4063C>T	c.(4063-4065)Cag>Tag	p.Q1355*		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1355					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTGATTTGCTGATACAGACTG	0.473000														122			36		0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69107480	69107480	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69107480C>T	uc003hdw.4	-	1	187	c.51G>A	c.(49-51)acG>acA	p.T17T		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	17					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.T17T(4)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AAATAAAGATCGTAGTCCATA	0.388000														49			36		0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9027799	9027799	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:9027799C>T	uc001apm.3	+	5	677	c.653C>T	c.(652-654)tCa>tTa	p.S218L	CA6_uc009vmn.3_Missense_Mutation_p.S158L	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	218					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		TACCATGGCTCACTCACCACG	0.527000														70			32		0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31541429	31541429	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31541429C>T	uc011dnu.1	+	3	790	c.577C>T	c.(577-579)Ctc>Ttc	p.L193F	LTA_uc003nue.1_Missense_Mutation_p.L193F|LTA_uc003nuf.3_Intron|LTA_uc003nuh.3_Intron|LTA_uc003nug.3_Missense_Mutation_p.P102L|LTA_uc010jsr.3_Non-coding_Transcript|TNF_uc003nui.3_5'Flank|TNF_uc003nuj.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	193					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CCACCTAGTCCTCAGCCCTAG	0.522000														186			79		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109318260	109318260	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:109318260C>T	uc010agk.2	+	1	677	c.55C>T	c.(55-57)Cga>Tga	p.R19*	MYO16_uc001vqt.1_5'UTR	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	0					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TAACGTTTTTCGATCCCATGA	0.493000														36			5		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107417675	107417675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:107417675C>T	uc004enw.4	-	30	3239	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K	COL4A6_uc004env.4_Missense_Mutation_p.E1045K|COL4A6_uc011msn.2_Missense_Mutation_p.E1045K|COL4A6_uc010npk.3_Missense_Mutation_p.E1045K	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1046	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						CTTACACTTTCTCCTGGCATT	0.552000									Alport syndrome with Diffuse Leiomyomatosis					16			18		0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68686993	68686993	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:68686993G>A	uc001jmz.1	+	1	869	c.319G>A	c.(319-321)Gga>Aga	p.G107R	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Missense_Mutation_p.G107R	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	107						integral to membrane		p.G107V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGCTTTTAATGGAATACGCAG	0.358000														153			37		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452434	179452434	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179452434C>T	uc021vsy.1	-	254	56123	c.55898G>A	c.(55897-55899)cGa>cAa	p.R18633Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R12328Q|TTN_uc021vta.1_Missense_Mutation_p.R12261Q|TTN_uc021vtb.1_Missense_Mutation_p.R12136Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19560	Fibronectin type-III 35.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T18633I(1)		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)			AGGGGCTGGTCGTCCTCTCAC	0.478000														33			15		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140953566	140953566	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140953566G>A	uc004cog.3	+	29	4654	c.4509G>A	c.(4507-4509)ctG>ctA	p.L1503L	CACNA1B_uc022bqn.1_Silent_p.L1503L|CACNA1B_uc011mfd.2_Silent_p.L1104L|CACNA1B_uc004coi.3_Silent_p.L717L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1503					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGCTGATGCTGAAATGCCTGA	0.542000														18			6		0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169487532	169487532	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169487532G>A	uc002uec.1	+	3	569	c.445G>A	c.(445-447)Gga>Aga	p.G149R	CERS6_uc002ueb.1_Missense_Mutation_p.G149R	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	149	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.G149*(1)									ATTTACCTACGGAGTCAGATT	0.299000														92			21		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467057	56467057	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56467057C>T	uc002qmh.3	+	2	1704	c.1633C>T	c.(1633-1635)Ccc>Tcc	p.P545S	NLRP8_uc010etg.3_Missense_Mutation_p.P545S	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	545						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GATAGCGAGTCCCAGAGGAAG	0.458000														85			43		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68701305	68701305	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:68701305C>T	uc001ook.1	+	9	1563	c.1461C>T	c.(1459-1461)ccC>ccT	p.P487P	IGHMBP2_uc001ool.1_Silent_p.P111P|IGHMBP2_uc001oom.1_Silent_p.P65P	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	487					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGGGTGTGCCCCTGCTCTTGG	0.647000														12			6		0	0	1	0	0
SRP72	6731	broad.mit.edu	37	4	57350913	57350913	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:57350913C>T	uc003hbv.3	+	9	1009	c.969C>T	c.(967-969)tgC>tgT	p.C323C	SRP72_uc010ihe.3_Silent_p.C262C	NM_006947	NP_008878	O76094	SRP72_HUMAN	Homo sapiens signal recognition particle 72kDa (SRP72), mRNA.	323					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CTGAACAATGCCGCAAAATAT	0.413000														144			33		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034594	52034594	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52034594C>T	uc002pwy.3	-	1	455	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SIGLEC6_uc002pwz.3_Missense_Mutation_p.E83K|SIGLEC6_uc010ydb.2_Missense_Mutation_p.E47K|SIGLEC6_uc010ydc.2_Missense_Mutation_p.E83K|SIGLEC6_uc002pxa.3_Missense_Mutation_p.E83K|SIGLEC6_uc010eoz.2_Missense_Mutation_p.E83K|SIGLEC6_uc010epa.2_Missense_Mutation_p.E72K|SIGLEC6_uc010epb.2_Missense_Mutation_p.E36K	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	83	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGCACTTCTTCGTCTGGGTCG	0.582000														92			31		0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46307639	46307639	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46307639C>T	uc003cpl.2	+	2	2120	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	CCR3_uc003cpg.2_Silent_p.F330F|CCR3_uc003cpk.2_Silent_p.F351F|CCR3_uc003cpi.2_Silent_p.F330F|CCR3_uc010hjb.2_Silent_p.F348F|CCR3_uc003cpj.2_Silent_p.F330F|CCR3_uc021wwz.1_Silent_p.F330F	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	330					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		ACATCCCATTCCTTCCTAGTG	0.512000														60			7		0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6924073	6924073	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6924073G>A	uc001qqv.2	+	4	780	c.522G>A	c.(520-522)ctG>ctA	p.L174L	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Silent_p.L119L|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	174	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				TGTCTCAGCTGGAGCTCCAGG	0.547000														50			21		0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104337524	104337524	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:104337524G>A	uc003ylh.3	+	3	1480	c.1190G>A	c.(1189-1191)cGa>cAa	p.R397Q	FZD6_uc011lhn.2_Missense_Mutation_p.R365Q|FZD6_uc003ylj.3_Missense_Mutation_p.R397Q|FZD6_uc011lho.2_Missense_Mutation_p.R92Q|FZD6_uc011lhp.2_Missense_Mutation_p.R342Q	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	397					G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R397Q(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AATCATGTTCGACAAGTCATA	0.413000														208			77		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103311564	103311564	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103311564G>A	uc002tca.3	+	6	1720	c.1578G>A	c.(1576-1578)tgG>tgA	p.W526*		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	526						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACAACTTTTGGAGAGACAAGT	0.368000														156			39		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348695	140348695	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140348695C>T	uc003lii.3	+	0	2949	c.2344C>T	c.(2344-2346)Cga>Tga	p.R782*	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Nonsense_Mutation_p.R782*	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	782					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)			CATTGAAGTTCGAGGGAATGG	0.507000														58			21		0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75514208	75514208	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75514208G>A	uc001xrd.1	-	1	2367	c.2151C>T	c.(2149-2151)ttC>ttT	p.F717F	MLH3_uc001xre.1_Silent_p.F717F|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	717					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TATACCAGGGGAAAGAGGGGG	0.378000								Mismatch excision repair (MMR)						99			39		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415743	57415743	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:57415743C>T	uc021wfl.1	+	0	949	c.582C>T	c.(580-582)ctC>ctT	p.L194L	GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Silent_p.L194L|GNAS_uc010gjq.3_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.	319					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGGAGGAGCTCAAGCCCGAGG	0.667000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				17			5		0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649221	47649221	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:47649221C>T	uc010jzj.1	+	5	927	c.926C>T	c.(925-927)tCt>tTt	p.S309F	GPR111_uc003oyy.3_Missense_Mutation_p.S241F	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	309					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTCACTTTTTCTATGAGAATT	0.393000														155			9		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21132126	21132126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21132126C>T	uc010vbe.2	-	10	1634	c.1634G>A	c.(1633-1635)cGg>cAg	p.R545Q	DNAH3_uc002die.2_Intron	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	545	Stem (By similarity).		R -> W (in dbSNP:rs16970910).		ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CACACATTGCCGATCAGCAGC	0.493000														27			11		0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52789509	52789509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:52789509C>T	uc002xwv.2	-	1	786	c.388G>A	c.(388-390)Gag>Aag	p.E130K	CYP24A1_uc002xwu.1_5'Flank|CYP24A1_uc002xww.2_Missense_Mutation_p.E130K	NM_000782	NP_000773	Q07973	CP24A_HUMAN	Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	130					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGTTTGATCTCCAGCCGCTGC	0.622000														69			39		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113286201	113286201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113286201C>T	uc001pnz.3	-	3	986	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	DRD2_uc010rwv.2_Missense_Mutation_p.R221Q|DRD2_uc001poa.4_Missense_Mutation_p.R222Q|DRD2_uc001pob.4_Missense_Mutation_p.R222Q|DRD2_uc009yyr.1_Missense_Mutation_p.R222Q	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	222	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GGTGTTGACTCGCTTGCGGCG	0.567000														138			44		0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35449721	35449721	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35449721G>A	uc002nxh.1	-	3	1425	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTCGGCTGAAGAATTTCCCAC	0.507000														32			15		0	0	1	0	0
PHF2P1	266695	broad.mit.edu	37	13	19624112	19624112	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19624112G>A	uc001umb.1	-	8		c.3371C>T								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		AGGGGATGAAGAGGGTCTGGC	0.577000														57			23		0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71469630	71469630	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71469630G>A	uc003hfl.3	+	11	891	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	264					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GAGTTCAGAAGAAGTGGCAGT	0.423000														49			15		0	0	1	0	0
TAC3	6866	broad.mit.edu	37	12	57409509	57409509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57409509C>T	uc001smp.3	-	1	252	c.73G>A	c.(73-75)Gag>Aag	p.E25K	TAC3_uc001smt.3_Non-coding_Transcript|TAC3_uc001smu.3_Non-coding_Transcript|TAC3_uc001smv.3_Non-coding_Transcript|TAC3_uc010sqy.2_Non-coding_Transcript|TAC3_uc001smo.3_Missense_Mutation_p.E25K|TAC3_uc001smq.3_Non-coding_Transcript|TAC3_uc001smr.3_Non-coding_Transcript|TAC3_uc001sms.3_Non-coding_Transcript	NM_013251	NP_037383	Q9UHF0	TKNK_HUMAN	Homo sapiens tachykinin 3 (TAC3), transcript variant 1, mRNA.	25					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TCCTGTGGCTCCTTACAGACA	0.597000														60			15		0	0	1	0	0
TPM3	7170	broad.mit.edu	37	1	154163758	154163758	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154163758C>T	uc001fec.1	-	1	262	c.147G>A	c.(145-147)aaG>aaA	p.K49K		NM_152263	NP_689476	P06753	TPM3_HUMAN	Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.	48					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CTTTCAGCTTCTTCTGCATGG	0.512000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""									76			40		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10104320	10104320	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10104320C>T	uc002mmq.1	-	17	1756	c.1670G>A	c.(1669-1671)gGg>gAg	p.G557E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	557	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)			ACCAGGCAGCCCAGGGAGGCC	0.592000														58			18		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104061975	104061975	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:104061975G>A	uc003hxb.1	-	35	5840	c.5750C>T	c.(5749-5751)gCt>gTt	p.A1917V	CENPE_uc003hxc.1_Missense_Mutation_p.A1892V|CENPE_uc003hxd.1_5'Flank	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1917					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACTCACTCTAGCTTTGGTTTC	0.393000														40			24		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17496474	17496474	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17496474G>A	uc001mnc.3	-	1	375	c.249C>T	c.(247-249)ttC>ttT	p.F83F	ABCC8_uc010rcy.1_Silent_p.F83F|ABCC8_uc021qej.1_Intron	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	83					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	ACACCAGGACGAAGAGCAGCA	0.547000														50			19		0	0	1	0	0
FAM22D	728130	broad.mit.edu	37	10	89127097	89127097	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:89127097C>T	uc009xte.1	+	6	2188	c.1642C>T	c.(1642-1644)Cct>Tct	p.P548S		NM_001009610	NP_001009610	Q5VT03	FA22D_HUMAN	Homo sapiens family with sequence similarity 22, member D (FAM22D), mRNA.	783										large_intestine(2)|lung(2)	4						GTAGGGAGCCCCTTCAGATGC	0.632000														26			11		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873661	36873661	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36873661C>T	uc003cgj.3	-	20	7529	c.7281G>A	c.(7279-7281)tgG>tgA	p.W2427*		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2427					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGACATTCTTCCAGAGGCGGG	0.522000														100			36		0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940393	82940393	+	Silent	SNP	G	A	A	rs113269048	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:82940393G>A	uc003kim.3	-	2	635	c.564C>T	c.(562-564)atC>atT	p.I188I	HAPLN1_uc003kin.3_Silent_p.I188I	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	188	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CGAAGGAGGCGATCACAGCAT	0.582000														45			16		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108348406	108348406	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:108348406C>T	uc003ymn.3	-	2	1015	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	ANGPT1_uc011lhv.2_5'UTR|ANGPT1_uc003ymo.3_Missense_Mutation_p.E183K	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	183					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTCAAGATTTCATTTGTCTGT	0.363000														33			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179498290	179498290	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179498290C>T	uc021vsy.1	-	180	35317	c.35092G>A	c.(35092-35094)Ggt>Agt	p.G11698S	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G5393S|TTN_uc021vta.1_Missense_Mutation_p.G5326S|TTN_uc021vtb.1_Missense_Mutation_p.G5201S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12625	Glu-rich.|Pro-rich.						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)			ATCTCTTCACCATCTTTGAAC	0.408000														45			20		0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104048451	104048451	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104048451G>A	uc004bbb.3	+	3	717	c.318G>A	c.(316-318)gaG>gaA	p.E106E	LPPR1_uc011lvi.2_Silent_p.E82E|LPPR1_uc004bbc.3_Silent_p.E106E|LPPR1_uc010mtc.3_Silent_p.E90E	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	106						integral to membrane	catalytic activity										TTGCTCAGGAGAAAACAATTC	0.388000														101			14		0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29821054	29821054	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:29821054C>T	uc001iut.1	-	8	2639	c.1886G>A	c.(1885-1887)gGt>gAt	p.G629D	SVIL_uc001iuu.1_Intron	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	629					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCGTTCCACACCGGTGGGCAA	0.488000														79			33		0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10261405	10261405	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10261405C>T	uc003bve.1	+	7	1021	c.945C>T	c.(943-945)atC>atT	p.I315I		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	315	Protein kinase.				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|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GTGTCAGCATCTGCTCAGGGC	0.567000														30			17		0	0	1	0	0
ZNF696	79943	broad.mit.edu	37	8	144378535	144378535	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144378535C>T	uc003yxy.4	+	2	1099	c.690C>T	c.(688-690)acC>acT	p.T230T		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	Homo sapiens zinc finger protein 696 (ZNF696), mRNA.	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R229P(1)		lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			ACCGCCGCACCCACACCGGGG	0.726000														17			3		0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48501206	48501206	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48501206C>T	uc003ctf.1	+	6	978	c.946C>T	c.(946-948)Ctc>Ttc	p.L316F	ATRIP_uc011bbj.1_Missense_Mutation_p.L189F|ATRIP_uc003ctg.1_Missense_Mutation_p.L316F|TREX1_uc010hjy.3_5'UTR	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA.	316					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GATAAACCTGCTCCTGAAGCA	0.507000								Other conserved DNA damage response genes						210			49		0	0	1	0	0
LOC399753	399753	broad.mit.edu	37	10	49239436	49239436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:49239436C>T	uc001jgd.3	-	0	223	c.64G>A	c.(64-66)Gac>Aac	p.D22N						Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		ATGTGGAGGTCCTCACCAACT	0.577000														73			13		0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80223044	80223044	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:80223044G>A	uc003piy.3	-	3	1217	c.605C>T	c.(604-606)tCc>tTc	p.S202F	LCA5_uc003pix.3_Missense_Mutation_p.S202F|LCA5_uc011dyr.2_Missense_Mutation_p.S202F	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	202					protein transport	cilium axoneme|microtubule basal body	protein binding	p.F201C(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTTCTGTAAGGAAAATTTTGT	0.378000														44			42		0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806871	97806871	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:97806871C>T	uc011bgs.2	+	0	855	c.855C>T	c.(853-855)ccC>ccT	p.P285P		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I284F(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TTATAATTCCCCTGCTAAACC	0.373000														48			16		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124756615	124756615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124756615C>T	uc001qbg.3	-	15	2679	c.2539G>A	c.(2539-2541)Gga>Aga	p.G847R	ROBO4_uc010sas.2_Missense_Mutation_p.G702R|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.3_Missense_Mutation_p.G405R	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	847					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CCCACCCCTCCTCCAGTCCTG	0.662000														42			16		0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62658387	62658388	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62658387_62658388CC>TT	uc002yho.3	+	15	2249_2250	c.2081_2082CC>TT	c.(2080-2082)gcc>gTT	p.A694V	PRPF6_uc002yhp.3_Missense_Mutation_p.A654V	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	694					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ATCAGGGCAGCCCAAGATCTGT	0.574000														50			27		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38484966	38484966	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38484966C>T	uc010ive.1	-	17	2834	c.2502G>A	c.(2500-2502)gtG>gtA	p.V834V	LIFR_uc003jli.2_Silent_p.V834V	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	834					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TAATTAATCCCACAGCTGAAA	0.368000			T	PLAG1	salivary adenoma									35			7		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170952658	170952658	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:170952658G>A	uc010plz.2	+	8	866	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	C1orf129_uc001ghg.3_Missense_Mutation_p.E238K|C1orf129_uc009wvy.3_Missense_Mutation_p.E45K	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	238							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCAACAAGACGAAAGTAAAAT	0.358000														39			7		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104164482	104164482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104164482C>T	uc001kvg.1	-	14	3085	c.2558G>A	c.(2557-2559)aGc>aAc	p.S853N	PSD_uc001kvh.1_Missense_Mutation_p.S474N|PSD_uc009xxd.1_Missense_Mutation_p.S853N	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	853	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CTGCTCCAGGCTCCTGGGGAG	0.557000														126			33		0	0	1	0	0
GOT2	2806	broad.mit.edu	37	16	58750625	58750625	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:58750625G>A	uc002eof.1	-	6	909	c.795C>T	c.(793-795)atC>atT	p.I265I	GOT2_uc010vim.1_Silent_p.I222I	NM_002080	NP_002071	P00505	AATM_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA.	265					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGCCCTGTTCGATGAAGTGGC	0.488000														39			11		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47264840	47264840	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47264840C>T	uc001cqn.4	+	0	171	c.87C>T	c.(85-87)ctC>ctT	p.L29L	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Silent_p.L29L|CYP4B1_uc009vym.3_Silent_p.L29L|CYP4B1_uc010omk.2_5'UTR	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	29					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TTCTCAAGCTCATCCACCTGC	0.577000														18			8		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26802488	26802488	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:26802488G>A	uc001iss.3	+	7	1033	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	APBB1IP_uc009xks.1_Missense_Mutation_p.E238K	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	238	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TGAAGACCATGAAAATGTTGT	0.338000														58			25		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45706897	45706897	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45706897C>T	uc002zei.2	+	2	471	c.344C>T	c.(343-345)cCc>cTc	p.P115L		NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	115					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGGAGGAAGCCCCCGGCCGTC	0.677000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					63			23		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984599	85984599	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:85984599G>A	uc010qmc.2	-	1	390	c.382C>T	c.(382-384)Ctc>Ttc	p.L128F	LRIT2_uc001kcy.3_Missense_Mutation_p.L128F	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	128						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						ACCCTCAGGAGAGGGGTGGCA	0.557000														124			43		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657918	143657918	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143657918G>A	uc003wds.1	+	0	899	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CACCAATGCTGAACCCCATGA	0.453000														103			21		0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178769882	178769882	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:178769882G>A	uc002ulq.3	-	2	1422	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	PDE11A_uc002ulr.3_Silent_p.I118I|PDE11A_uc002uls.1_Silent_p.I10I|PDE11A_uc002ult.1_Silent_p.I118I|PDE11A_uc002ulu.1_Silent_p.I10I	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	368	GAF 1.				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)			TAGATATGGCGATTCCACAAA	0.363000									Primary Pigmented Nodular Adrenocortical Disease, Familial					40			12		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22211865	22211865	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22211865G>A	uc009vqd.3	-	9	1198	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	HSPG2_uc001bfj.3_Silent_p.F386F	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	386	LDL-receptor class A 4.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGTCACAGTGGAAGCTGGCTG	0.627000														49			11		0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112648064	112648064	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:112648064G>A	uc003dzj.1	-	3	726	c.493C>T	c.(493-495)Cat>Tat	p.H165Y	CD200R1_uc003dzk.1_Missense_Mutation_p.H142Y|CD200R1_uc011bhx.1_Missense_Mutation_p.H120Y|CD200R1_uc003dzl.1_Missense_Mutation_p.H165Y|CD200R1_uc003dzm.1_Missense_Mutation_p.H142Y	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.	142	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.F164F(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TATCCACGATGGAAATTCCCA	0.438000														98			31		0	0	1	0	0
SYVN1	84447	broad.mit.edu	37	11	64899785	64899785	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64899785G>A	uc001odb.3	-	5	559	c.465C>T	c.(463-465)ttC>ttT	p.F155F	SYVN1_uc001odc.3_Silent_p.F155F|SYVN1_uc009yqc.3_Intron	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	Homo sapiens synovial apoptosis inhibitor 1, synoviolin (SYVN1), transcript variant 2, mRNA.	155					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	p.F155F(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CGTGGCTGACGAAGAGGAAGT	0.592000														70			30		0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80634670	80634670	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:80634670C>T	uc003pja.4	-	3	688	c.369_splice	c.e3+1	p.R123_splice	ELOVL4_uc011dyt.2_Intron	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	123					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TGTACTTACCCTGACTTCATG	0.303000														34			18		0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57666645	57666645	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57666645C>T	uc002qoa.1	-	4	579	c.534G>A	c.(532-534)gaG>gaA	p.E178E		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	178						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		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;0.0123)		CTTGCAGTCCCTCAGGAATCT	0.498000														81			5		0	0	1	0	0
GPX3	2878	broad.mit.edu	37	5	150404937	150404937	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:150404937G>A	uc021yga.1	+	1	341	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_002084	NP_002075	P22352	GPX3_HUMAN	Homo sapiens glutathione peroxidase 3 (plasma) (GPX3), mRNA.	42					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	CACCATTTACGAGTACGGAGC	0.512000														74			26		0	0	1	0	0
VWC2	375567	broad.mit.edu	37	7	49951682	49951682	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:49951682G>A	uc003tot.1	+	3	1435	c.879G>A	c.(877-879)aaG>aaA	p.K293K		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	Homo sapiens von Willebrand factor C domain containing 2 (VWC2), mRNA.	293					negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GAGAAGTGAAGACTGACGAGT	0.453000														65			18		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3731987	3731987	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3731987G>A	uc010xhv.2	+	4	725	c.725G>A	c.(724-726)gGc>gAc	p.G242D	TJP3_uc010xhs.2_Missense_Mutation_p.G223D|TJP3_uc010xht.2_Missense_Mutation_p.G187D|TJP3_uc010xhu.2_Missense_Mutation_p.G232D|TJP3_uc010xhw.2_Missense_Mutation_p.G242D	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	223	PDZ 2.					tight junction	protein binding	p.S241S(1)		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)		ACAGATTCGGGCCTGGCTGCC	0.597000														57			16		0	0	1	0	0
CHRM1	1128	broad.mit.edu	37	11	62677545	62677545	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62677545G>A	uc021qko.1	-	0	1028	c.1028C>T	c.(1027-1029)cCc>cTc	p.P343L	CHRM1_uc001nwi.3_Missense_Mutation_p.P343L	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	343					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	CTTTCCACGGGGCTTCTGGCC	0.627000														41			14		0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96106999	96106999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:96106999C>T	uc001tei.3	-	3	1431	c.982G>A	c.(982-984)Gag>Aag	p.E328K	NTN4_uc009ztf.3_Missense_Mutation_p.E328K|NTN4_uc009ztg.3_Missense_Mutation_p.E291K	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	328	Laminin EGF-like 1.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTTCTGCACTCGTTGGGAGCC	0.502000														65			20		0	0	1	0	0
DOC2A	8448	broad.mit.edu	37	16	30020409	30020409	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30020409C>T	uc002dvn.3	-	4	626	c.435G>A	c.(433-435)acG>acA	p.T145T	BOLA2_uc010bzb.1_Intron|DOC2A_uc010vef.2_Non-coding_Transcript|DOC2A_uc002dvo.3_Silent_p.T145T|DOC2A_uc002dvp.3_Silent_p.T145T|DOC2A_uc002dvq.3_Silent_p.T145T	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	Homo sapiens double C2-like domains, alpha (DOC2A), mRNA.	145	C2 1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TCTGAGTCTTCGTTTTTAGCT	0.572000														44			9		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158609381	158609381	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158609381C>T	uc001fst.1	-	34	5170	c.4971G>A	c.(4969-4971)ttG>ttA	p.L1657L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1657					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTCTCGAGCCAACATCTCTC	0.483000														120			20		0	0	1	0	0
MTRF1	9617	broad.mit.edu	37	13	41814411	41814411	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:41814411G>A	uc010tff.2	-	6	1114	c.895C>T	c.(895-897)Cct>Tct	p.P299S	MTRF1_uc001uxx.3_Missense_Mutation_p.P286S|MTRF1_uc001uxy.3_Missense_Mutation_p.P286S|MTRF1_uc001uxz.3_Missense_Mutation_p.P122S|MTRF1_uc001uyc.1_Missense_Mutation_p.P286S			O75570	RF1M_HUMAN	Homo sapiens mitochondrial translational release factor 1 (MTRF1), nuclear gene encoding mitochondrial protein, mRNA.	286					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TCTGGCTGAGGAAGGACAATA	0.532000														110			35		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94888377	94888377	+	Missense_Mutation	SNP	G	A	A	rs139457907		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:94888377G>A	uc002btj.3	+	6	1054	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	MCTP2_uc010urg.1_Missense_Mutation_p.R330Q|MCTP2_uc002bti.2_Missense_Mutation_p.R330Q|MCTP2_uc010boj.3_Missense_Mutation_p.R59Q|MCTP2_uc010bok.3_Missense_Mutation_p.R330Q	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	330					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AATCGGAAGCGATTAAGTGCC	0.318000														63			6		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314000	54314000	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54314000C>T	uc002qcj.4	-	2	1133	c.913G>A	c.(913-915)Gat>Aat	p.D305N	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.D305N|NLRP12_uc002qci.4_Missense_Mutation_p.D305N|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.D305N	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	305	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCTGAGGATCGTGGAAAGAA	0.582000														66			6		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20129252	20129252	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:20129252C>T	uc010rdm.2	+	37	7413	c.7052C>T	c.(7051-7053)tCg>tTg	p.S2351L	NAV2_uc001mpp.3_Missense_Mutation_p.S2231L|NAV2_uc001mpr.4_Missense_Mutation_p.S2295L|NAV2_uc021qew.1_Missense_Mutation_p.S2298L|NAV2_uc009yhx.3_Missense_Mutation_p.S1359L|NAV2_uc009yhz.3_Missense_Mutation_p.S940L|NAV2_uc001mpu.3_Missense_Mutation_p.S733L|NAV2_uc001mpv.3_Missense_Mutation_p.S57L	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	2354						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTGGACGGCTCGAGAGTGTGG	0.547000														318			134		0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27321384	27321384	+	Silent	SNP	G	A	A	rs148009259		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:27321384G>A	uc010lur.3	-	5	1185	c.576C>T	c.(574-576)ttC>ttT	p.F192F	CHRNA2_uc011lal.2_Silent_p.F177F|CHRNA2_uc010lus.3_Intron	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	192						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	TCTGCTGGTCGAAGGGGAAGA	0.567000														92			47		0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958579	78958579	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:78958579C>T	uc001din.3	+	1	417	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	PTGFR_uc001dim.3_Missense_Mutation_p.L51F	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	51					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CATCGCCATTCTCATGAAGGC	0.443000														108			58		0	0	1	0	0
RLN1	6013	broad.mit.edu	37	9	5335409	5335409	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:5335409G>A	uc003zjb.1	-	1	527	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C		NM_006911	NP_008842	P04808	REL1_HUMAN	Homo sapiens relaxin 1 (RLN1), mRNA.	134					female pregnancy|signal transduction	extracellular region	hormone activity			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		TGCCTATTGCGAATAAGTTTC	0.408000														88			41		0	0	1	0	0
C9orf9	11092	broad.mit.edu	37	9	135759459	135759460	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135759459_135759460CC>GT	uc004cbz.1	+	1	274_275	c.125_126CC>GT	c.(124-126)ccc>cGT	p.P42R	C9orf9_uc004cbx.1_Missense_Mutation_p.P42R|C9orf9_uc004cby.1_Missense_Mutation_p.P42R	NM_018956	NP_061829	Q96E40	CI009_HUMAN	Homo sapiens chromosome 9 open reading frame 9 (C9orf9), mRNA.	42								p.R41W(1)|p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		AAGATCCGGCCCATCTCCAGCA	0.634000														53			7		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61557763	61557763	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61557763G>A	uc002jau.2	+	4	755	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	ACE_uc010wpi.2_Missense_Mutation_p.E241K|ACE_uc010ddu.2_Missense_Mutation_p.E58K	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	241	Peptidase M2 1.				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)	GGACGATCTGGAACACCTCTA	0.612000														75			28		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31536324	31536324	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31536324C>T	uc003aka.3	-	0	146	c.17G>A	c.(16-18)gGg>gAg	p.G6E		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	6					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCCAAACAGCCCTGCCTGAAC	0.677000														68			28		0	0	1	0	0
RIBC2	26150	broad.mit.edu	37	22	45813553	45813553	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:45813553C>T	uc011aqs.2	+	3	474	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA.	22										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TAGGAAAAATCTCTGTAGGGC	0.433000														60			18		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149882491	149882491	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:149882491G>A	uc001etg.3	-	3	1333	c.842C>T	c.(841-843)tCc>tTc	p.S281F	SV2A_uc001eth.2_Missense_Mutation_p.S281F	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	281					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.S281S(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CAGAAACTCGGAGAAATAGGA	0.527000														58			7		0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820223	55820223	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55820223G>A	uc010spm.2	+	0	186	c.186G>A	c.(184-186)agG>agA	p.R62R		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCTTCCTCAGGAATTTCTCCT	0.393000														138			56		0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26527408	26527408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26527408G>A	uc010oez.2	+	7	1075	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	CATSPER4_uc010oey.1_Missense_Mutation_p.E181K|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	359					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCCAGGAACCCCTTGC	0.577000														70			19		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7607462	7607462	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7607462C>T	uc010xjq.2	+	12	1535	c.1295C>T	c.(1294-1296)cCc>cTc	p.P432L	PNPLA6_uc002mgq.2_Missense_Mutation_p.P384L|PNPLA6_uc010xjp.2_Missense_Mutation_p.P384L|PNPLA6_uc002mgr.2_Missense_Mutation_p.P384L|PNPLA6_uc002mgs.3_Missense_Mutation_p.P423L	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	423					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CAGGGTGGCCCCCGCTCCGAC	0.607000														38			9		0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92346621	92346621	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:92346621G>A	uc003yez.3	+	5	980	c.741G>A	c.(739-741)ctG>ctA	p.L247L	SLC26A7_uc003yex.3_Silent_p.L247L|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Silent_p.L247L	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	247						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.E246E(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTAAAGAGCTGAATGAACAGT	0.338000														54			25		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211639	38211639	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:38211639C>T	uc010abx.3	-	10	2585	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	TRPC4_uc010abv.3_Missense_Mutation_p.E359K|TRPC4_uc001uwt.3_Missense_Mutation_p.E779K|TRPC4_uc001uws.3_Missense_Mutation_p.E779K|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Missense_Mutation_p.E606K|TRPC4_uc010aby.3_Missense_Mutation_p.E714K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	779	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCACTCTTTTCATCTGAGTCT	0.423000														100			31		0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29782300	29782300	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:29782300C>T	uc001iut.1	-	20	4615	c.3862G>A	c.(3862-3864)Gtg>Atg	p.V1288M	SVIL_uc010qdw.1_Missense_Mutation_p.V202M|SVIL_uc001iuu.1_Missense_Mutation_p.V862M|SVIL_uc009xlc.2_Missense_Mutation_p.V80M	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1288					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.T1287T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACAGTGAGCACCGTTTCGTGC	0.398000														32			16		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156816441	156816441	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156816441C>T	uc010pht.2	-	7	1979	c.1680G>A	c.(1678-1680)gtG>gtA	p.V560V	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	560	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGCTAGGGTCACCCCTGGCT	0.612000														62			8		0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19564139	19564139	+	Silent	SNP	G	A	A	rs148651015	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:19564139G>A	uc004czm.3	-	14	1840	c.1524C>T	c.(1522-1524)gaC>gaT	p.D508D	SH3KBP1_uc011mje.2_Silent_p.D247D|SH3KBP1_uc011mjf.2_Silent_p.D270D|SH3KBP1_uc004czl.3_Silent_p.D471D|SH3KBP1_uc010nfm.3_Intron	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	508					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GACTTGGGGAGTCGAAGATAT	0.433000														16			19		0	0	1	0	0
HTRA3	94031	broad.mit.edu	37	4	8305930	8305930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:8305930G>A	uc003gla.3	+	7	1327	c.1120G>A	c.(1120-1122)Gcc>Acc	p.A374T		NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	374	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TGAGCTGAAGGCCAGCAACCC	0.587000														35			12		0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55762066	55762066	+	Silent	SNP	G	A	A	rs139328258		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55762066G>A	uc010riv.2	-	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCAATAGGACGAACTCAGTCA	0.338000														84			27		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13792151	13792151	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13792151G>A	uc003jfd.2	-	49	8442	c.8400C>T	c.(8398-8400)gtC>gtT	p.V2800V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2800	AAA 3 (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)					TTCCCTGCCAGACCCGAGAAA	0.403000									Kartagener syndrome					41			23		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169787178	169787178	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169787178C>G	uc002ueo.1	-	24	3534	c.3408G>C	c.(3406-3408)aaG>aaC	p.K1136N	ABCB11_uc010zda.1_Missense_Mutation_p.K578N|ABCB11_uc010zdb.1_Missense_Mutation_p.K612N	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1136	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GGCTTACCACCTTCCCTTGAT	0.463000														25			7		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61847951	61847951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61847951G>A	uc001jky.3	-	28	3832	c.3494C>T	c.(3493-3495)tCt>tTt	p.S1165F	ANK3_uc001jkw.3_Missense_Mutation_p.S299F|ANK3_uc009xpa.3_Missense_Mutation_p.S299F|ANK3_uc001jkx.3_Missense_Mutation_p.S343F|ANK3_uc010qih.2_Missense_Mutation_p.S1166F|ANK3_uc001jkz.4_Missense_Mutation_p.S1159F|ANK3_uc001jla.1_Missense_Mutation_p.S231F|ANK3_uc001jlb.1_Missense_Mutation_p.S683F	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1165					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						CTCTGGGAAAGATGCTTGAAC	0.488000														132			31		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151773863	151773863	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:151773863G>A	uc010ipj.3	-	22	3243	c.2999C>T	c.(2998-3000)tCa>tTa	p.S1000L	LRBA_uc003ilu.4_Missense_Mutation_p.S1000L	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1000						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGATTCTAGTGAACTTGTCTT	0.378000														76			22		0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65274970	65274970	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:65274970G>A	uc003hcv.3	-	0	209	c.100C>T	c.(100-102)Cac>Tac	p.H34Y	TECRL_uc003hcw.3_Missense_Mutation_p.H34Y	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	34					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GACAAAAAGTGAAAATTTCTC	0.413000														71			29		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140183064	140183064	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140183064G>A	uc003lhf.2	+	0	2282	c.2282G>A	c.(2281-2283)gGa>gAa	p.G761E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.G761E	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	752					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)			GTGTGCTCTGGAGAGGGGTTG	0.607000														108			33		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30825370	30825370	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:30825370C>T	uc010xbr.1	-	13	1574	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	C18orf34_uc010dme.1_5'UTR|C18orf34_uc002kxn.2_Missense_Mutation_p.E478K|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.E478K|C18orf34_uc002kxp.3_Missense_Mutation_p.E478K	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	478										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						ATTTCAGATTCGTATTTTGAT	0.254000														14			6		0	0	1	0	0
QARS	5859	broad.mit.edu	37	3	49137072	49137072	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49137072G>A	uc003cvx.3	-	15	1402	c.1397C>T	c.(1396-1398)tCc>tTc	p.S466F	QARS_uc011bcc.2_5'Flank|QARS_uc011bcd.2_Missense_Mutation_p.S321F|QARS_uc003cvy.3_Missense_Mutation_p.S321F|QARS_uc011bce.2_Missense_Mutation_p.S455F	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	466					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CCAGAAGTAGGAAGAGCGTCT	0.567000														56			5		0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31763243	31763243	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31763243A>G	uc002wyo.1	+	4	512	c.441A>G	c.(439-441)aaA>aaG	p.K147K		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.	147						extracellular region	lipid binding										TCAACCTGAAAGCCTCCTTGG	0.537000														126			50		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388446	48388446	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48388446G>A	uc001jez.3	-	0	2546	c.2432C>T	c.(2431-2433)tCt>tTt	p.S811F		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	811	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTCAAAGACAGAATACAGGTG	0.607000														14			9		0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117245	20117245	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:20117245G>A	uc002noq.3	-	3	1189	c.1066C>T	c.(1066-1068)Ctt>Ttt	p.L356F	ZNF682_uc002noo.3_Missense_Mutation_p.L324F|ZNF682_uc002nop.3_Missense_Mutation_p.L324F|ZNF682_uc010eck.3_Missense_Mutation_p.L280F	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TGTTCAGTAAGAATTGATGAT	0.368000														55			21		0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128029016	128029016	+	Missense_Mutation	SNP	G	A	A	rs139049289		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:128029016G>A	uc002toh.1	-	11	1936	c.1841C>T	c.(1840-1842)tCg>tTg	p.S614L	ERCC3_uc002toe.1_Missense_Mutation_p.S369L|ERCC3_uc002tof.1_Missense_Mutation_p.S550L|ERCC3_uc002tog.1_Missense_Mutation_p.S550L	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	614	Helicase C-terminal.				DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CAGATCAAACGAAGTGTCACC	0.423000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					119			55		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605290	171605290	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171605290G>A	uc001ghu.3	-	2	1312	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	MYOC_uc010pmk.2_Silent_p.F372F	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	430	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CACAGATGATGAAGGCATTGG	0.507000														131			47		0	0	1	0	0
PRSS42	339906	broad.mit.edu	37	3	46874578	46874578	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46874578G>A	uc011bap.2	-	2	490	c.490C>T	c.(490-492)Cga>Tga	p.R164*	PRSS42_uc003cqj.3_Nonsense_Mutation_p.R60*	NM_182702	NP_874361	Q7Z5A4	PRS42_HUMAN	Homo sapiens protease, serine, 42 (PRSS42), mRNA.	164	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						AGGTCATTTCGAATGGTTGTA	0.458000														52			32		0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42821976	42821976	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42821976G>A	uc002otk.1	+	11	1068	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	339						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GTCTCACTGCGACACTTTCCT	0.582000														122			8		0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153554	5153554	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5153554G>A	uc010qyx.2	-	0	319	c.319C>T	c.(319-321)Cac>Tac	p.H107Y		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGAATGAGTGAATAAGCCAC	0.448000														56			6		0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729720	62729720	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62729720C>T	uc002yic.3	+	4	1100	c.681C>T	c.(679-681)ccC>ccT	p.P227P	OPRL1_uc002yid.3_Silent_p.P227P|OPRL1_uc021wgs.1_Silent_p.P227P|OPRL1_uc002yif.4_Silent_p.P222P	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	227					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TCATCGTCCCCGTGCTCGTCA	0.622000														116			58		0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50159027	50159027	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:50159027G>A	uc002xwd.3	-	0	232	c.12C>T	c.(10-12)ccC>ccT	p.P4P	NFATC2_uc002xwc.3_Silent_p.P4P|NFATC2_uc010zyv.2_5'UTR|NFATC2_uc010zyw.2_5'UTR|NFATC2_uc002xwe.3_Intron|NFATC2_uc010zyx.2_Intron|NFATC2_uc010zyy.2_Intron|NFATC2_uc010zyz.2_Intron	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	4					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCTGCCGCTCGGGGGCGTTCA	0.751000														11			3		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255615	15255615	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15255615G>A	uc001iob.3	-	7	1979	c.1972C>T	c.(1972-1974)Cct>Tct	p.P658S		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	658						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCGTTCTGAGGGCTCCACTCC	0.607000														71			19		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139909458	139909458	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139909458G>A	uc004ckm.1	-	24	3926	c.3876C>T	c.(3874-3876)gcC>gcT	p.A1292A	ABCA2_uc022bpy.1_Silent_p.A1193A|ABCA2_uc022bpz.1_Silent_p.A1263A|ABCA2_uc011mem.1_Silent_p.A1262A|ABCA2_uc004ckl.1_Silent_p.A1193A|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1262					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCAGGCAGGAGGCCACATGCT	0.667000														34			9		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101344485	101344485	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:101344485G>A	uc001pgk.4	-	6	2189	c.1764C>T	c.(1762-1764)ccC>ccT	p.P588P	TRPC6_uc009ywy.3_Silent_p.P472P|TRPC6_uc009ywz.1_Silent_p.P533P	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	588					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GAGGATCAGAGGGGTCCCACT	0.348000														98			54		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142561068	142561068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142561068C>T	uc011kst.2	+	4	870	c.83C>T	c.(82-84)tCa>tTa	p.S28L	EPHB6_uc011ksu.2_Missense_Mutation_p.S28L|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	28						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTGGTGTCTTCAGTTCTGGCT	0.557000														38			14		0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6476061	6476061	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:6476061G>A	uc003sqa.3	-	2	521	c.351C>T	c.(349-351)gcC>gcT	p.A117A	DAGLB_uc011jwt.2_5'Flank|DAGLB_uc011jwu.2_Silent_p.A117A|DAGLB_uc003sqb.3_Intron|DAGLB_uc003sqc.3_Intron|DAGLB_uc011jwv.2_Intron|DAGLB_uc003sqd.4_Silent_p.A76A|DAGLB_uc011jww.1_Intron	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	117					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CTGCCACCCAGGCAGCCCCCA	0.542000														120			66		0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6783476	6783476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:6783476G>A	uc003wqt.3	-	0	123	c.82C>T	c.(82-84)Cca>Tca	p.P28S		NM_001926	NP_001917	Q01524	DEF6_HUMAN	Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA.	28					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GCCTGCAGTGGATCATCCTCA	0.577000														19			10		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43634857	43634857	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:43634857C>T	uc003bdt.2	-	6	958	c.831G>A	c.(829-831)ggG>ggA	p.G277G	SCUBE1_uc003bdu.2_Silent_p.G307G	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	277	EGF-like 5 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGCATGTCTTCCCGTCCGGCT	0.637000														48			8		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62542072	62542072	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:62542072C>T	uc001xfu.1	+	2	1153	c.956C>T	c.(955-957)tCc>tTc	p.S319F	SYT16_uc010tsd.1_Missense_Mutation_p.S319F	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	319								p.S319C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TTTGAAGATTCCTATGCCACT	0.502000														130			38		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61894123	61894123	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61894123G>A	uc001jky.3	-	24	3085	c.2747C>T	c.(2746-2748)tCc>tTc	p.S916F	ANK3_uc001jkw.3_Missense_Mutation_p.S50F|ANK3_uc009xpa.3_Missense_Mutation_p.S50F|ANK3_uc001jkx.3_Missense_Mutation_p.S94F|ANK3_uc010qih.2_Missense_Mutation_p.S917F|ANK3_uc001jkz.4_Missense_Mutation_p.S910F|ANK3_uc001jla.1_5'Flank|ANK3_uc001jlb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	916					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.R915L(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGAACTGAAGGAGCGGAGGCT	0.418000														28			12		0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151105853	151105854	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151105853_151105854GG>AA	uc001ewv.3	-	19	2331_2332	c.1995_1996CC>TT	c.(1993-1998)caccga>caTTga	p.R666*	SEMA6C_uc001ewu.3_Nonsense_Mutation_p.R634*|SEMA6C_uc001eww.3_Nonsense_Mutation_p.R626*	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	634	Poly-Pro.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCCGACGTCGGTGGGCGCGGC	0.728000														15			7		0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70236545	70236545	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:70236545C>T	uc003tvw.4	+	10	2480	c.1745C>T	c.(1744-1746)tCc>tTc	p.S582F	AUTS2_uc003tvx.4_Missense_Mutation_p.S582F|AUTS2_uc011keg.2_Missense_Mutation_p.S34F	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	582										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CTCTTCCATTCCTATCCTCCT	0.493000														79			38		0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18539819	18539819	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:18539819G>A	uc002kte.3	-	28	4435	c.3494C>T	c.(3493-3495)tCt>tTt	p.S1165F		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	1165	Auto-inhibitory.|PH.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CAATACCATAGATGGATTGGA	0.303000														35			10		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882500	228882500	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228882500C>T	uc002vpq.2	-	6	3117	c.3070G>A	c.(3070-3072)Gag>Aag	p.E1024K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1024K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1024K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1024						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCATGGACTCATCCACAACC	0.498000														120			30		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49557646	49557646	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:49557646G>A	uc002efs.3	-	7	4012	c.3714C>T	c.(3712-3714)ttC>ttT	p.F1238F	ZNF423_uc010vgn.2_Silent_p.F1121F	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	1238					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.V1237V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGCCTGGACGAAGACTAGAC	0.587000														32			10		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16008341	16008341	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16008341G>A	uc002nbs.1	-	1	131	c.81C>T	c.(79-81)gcC>gcT	p.A27A	CYP4F2_uc010xot.1_Intron|CYP4F2_uc010xou.1_5'UTR	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	27					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGAGCCAGGAGGCCCCGACCA	0.647000														80			21		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231216	21231216	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21231216C>T	uc002red.3	-	25	8652	c.8524G>A	c.(8524-8526)Gaa>Aaa	p.E2842K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2842					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AACAGCATTTCACTCCCATGC	0.418000														216			23		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291034	33291034	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:33291034C>T	uc001wrq.3	+	12	4185	c.4015C>T	c.(4015-4017)Ctt>Ttt	p.L1339F		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1339					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTTGCCAGATCTTCTAGGTGG	0.433000														41			13		0	0	1	0	0
LANCL2	55915	broad.mit.edu	37	7	55467736	55467736	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55467736C>T	uc003tqp.3	+	3	1195	c.617C>T	c.(616-618)gCc>gTc	p.A206V		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.	206					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|GTP binding|catalytic activity|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TATCTGTATGCCTTACTGTAC	0.473000														114			33		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11302087	11302087	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:11302087G>A	uc010hdr.3	+	1	1706	c.1364G>A	c.(1363-1365)tGg>tAg	p.W455*	HRH1_uc010hds.3_Nonsense_Mutation_p.W455*|HRH1_uc010hdt.3_Nonsense_Mutation_p.W455*|HRH1_uc003bwb.4_Nonsense_Mutation_p.W455*|HRH1_uc021wtb.1_Nonsense_Mutation_p.W455*	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	455					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TTCACCATCTGGCTGGGCTAC	0.453000														208			41		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768756	117768756	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117768756G>A	uc001twn.2	-	1	830	c.119C>T	c.(118-120)cCc>cTc	p.P40L	NOS1_uc001twm.2_Missense_Mutation_p.P40L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	40	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GATGATCACGGGCGGCTTACT	0.587000														78			15		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179961271	179961271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179961271C>T	uc001gnt.3	+	4	693	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C	CEP350_uc001gnr.1_Missense_Mutation_p.R78C|CEP350_uc009wxl.2_Missense_Mutation_p.R103C	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	104						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAGAAATCTCGTAGTCCTCT	0.398000														17			3		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89948163	89948163	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89948163G>A	uc003kju.3	+	19	3513	c.3417_splice	c.e19-1	p.W1139_splice	GPR98_uc003kjt.3_Splice_Site	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1139					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATTTTGTAGGATTTTGAGGC	0.343000														111			39		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54894327	54894327	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54894327G>A	uc001sgc.4	+	2	303	c.224G>A	c.(223-225)gGa>gAa	p.G75E	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.G25E	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	75					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CAACATTTAGGACCAGTACAT	0.373000														139			57		0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25023478	25023478	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:25023478C>T	uc003aan.1	+	11	1587	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	GGT1_uc003aas.1_Missense_Mutation_p.S367F|GGT1_uc003aat.1_Missense_Mutation_p.S367F|GGT1_uc003aau.2_Missense_Mutation_p.S367F|GGT1_uc003aav.2_Missense_Mutation_p.S367F|GGT1_uc003aaw.2_Missense_Mutation_p.S367F|GGT1_uc003aax.2_Missense_Mutation_p.S367F|GGT1_uc003aay.1_Missense_Mutation_p.S23F	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	367					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CACCCGATCTCCTACTACAAG	0.637000														46			5		0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58453672	58453672	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58453672G>A	uc002qqu.3	-	2	739	c.504C>T	c.(502-504)ttC>ttT	p.F168F	ZNF256_uc010euj.3_Silent_p.F15F	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	Homo sapiens zinc finger protein 256 (ZNF256), mRNA.	168					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		CCTTGCAAGTGAAGGGCTTCC	0.478000														108			10		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411138	23411138	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:23411138G>A	uc004dal.4	+	2	1511	c.1503G>A	c.(1501-1503)aaG>aaA	p.K501K		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	501					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CCTATGTCAAGCCTTTTGTAG	0.428000														57			81		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72164243	72164243	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:72164243C>T	uc002fcc.4	-	11	1838	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	PMFBP1_uc002fcd.3_Missense_Mutation_p.E551K|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Missense_Mutation_p.E406K|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	556										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AATGACAGCTCCTCCACCCGT	0.478000														41			25		0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10689751	10689751	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:10689751C>T	uc001arn.3	+	8	862	c.841C>T	c.(841-843)Cac>Tac	p.H281Y	PEX14_uc009vmv.3_Missense_Mutation_p.H217Y|PEX14_uc010oam.2_Missense_Mutation_p.H217Y|PEX14_uc010oan.2_Missense_Mutation_p.H238Y|PEX14_uc009vmw.3_Missense_Mutation_p.H217Y	NM_004565	NP_004556	O75381	PEX14_HUMAN	Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.	281					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GAAGGAGGGCCACAGCCCCGA	0.677000														16			7		0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562460	32562460	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:32562460C>T	uc001wrl.3	+	1	2824	c.2585C>T	c.(2584-2586)tCg>tTg	p.S862L	ARHGAP5_uc001wrm.3_Missense_Mutation_p.S862L|ARHGAP5_uc001wrn.3_Missense_Mutation_p.S862L|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	862					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CGGAAAGCTTCGATGGGAATG	0.378000														52			17		0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41628036	41628036	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41628036G>A	uc002opu.1	+	5	876	c.820G>A	c.(820-822)Gag>Aag	p.E274K	CYP2F1_uc021uuv.1_Missense_Mutation_p.E60K|CYP2F1_uc010xvv.1_Missense_Mutation_p.E274K|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	274					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CAAGATGGCAGAGGTAATCCC	0.602000														27			12		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466958	56466958	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56466958G>A	uc002qmh.3	+	2	1605	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	NLRP8_uc010etg.3_Missense_Mutation_p.E512K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	512	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GACTTTTCAGGAATTTTTTGC	0.468000														209			64		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33591242	33591242	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:33591242C>T	uc001uus.3	+	0	672	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	222	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTACGCGGAGCTCTGCTTCCG	0.692000														32			4		0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71068757	71068757	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:71068757G>A	uc003xyn.1	-	10	2005	c.1843C>T	c.(1843-1845)Ccc>Tcc	p.P615S		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	615					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGCAGGTTGGGGTCATTTGTT	0.552000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									94			26		0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291460	141291460	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:141291460G>A	uc022cfj.1	-	0	314	c.314C>T	c.(313-315)tCc>tTc	p.S105F	MAGEC2_uc004fbu.2_Missense_Mutation_p.S105F	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	105	Ser-rich.					cytoplasm|nucleus		p.C104S(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAAAAGAGGAGCAGCAGGA	0.557000										HNSCC(46;0.14)				26			26		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227886796	227886797	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:227886796_227886797CC>TT	uc021vxr.1	-	42	4284_4285	c.4183_4184GG>AA	c.(4183-4185)ggg>AAg	p.G1395K	COL4A4_uc021vxs.1_Missense_Mutation_p.G1392K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1395	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCAGGGAGCCCCATGGCTCCT	0.520000														172			56		0	0	1	0	0
RSPO3	84870	broad.mit.edu	37	6	127476394	127476394	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:127476394G>A	uc003qas.1	+	3	735	c.445G>A	c.(445-447)Gag>Aag	p.E149K	RSPO3_uc003qar.3_Missense_Mutation_p.E149K	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	Homo sapiens R-spondin 3 (RSPO3), mRNA.	149	TSP type-1.					extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		AGTGCACTGTGAGGTCAGTGA	0.428000														96			57		0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124515320	124515320	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124515320G>A	uc003eho.3	-	9	1905	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	536	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		ACTCGCTCTCGAAGCAGGAGC	0.602000														90			28		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40790031	40790031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:40790031C>T	uc002xkg.3	-	16	2827	c.2643G>A	c.(2641-2643)atG>atA	p.M881I	PTPRT_uc010ggj.3_Missense_Mutation_p.M900I|PTPRT_uc010ggi.3_Missense_Mutation_p.M84I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	881					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCCTCTCTTCATCTGCGTGA	0.562000														73			28		0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25674066	25674066	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:25674066G>A	uc011awn.1	-	9	1180	c.1137C>T	c.(1135-1137)aaC>aaT	p.N379N	TOP2B_uc003cdj.2_Silent_p.N374N|TOP2B_uc021wug.1_Silent_p.N374N	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	379					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CCCATATATGGTTTTTTACCT	0.299000														21			7		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113649088	113649088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:113649088C>T	uc003ynu.3	-	21	3832	c.3673G>A	c.(3673-3675)Ggt>Agt	p.G1225S	CSMD3_uc003yns.3_Missense_Mutation_p.G497S|CSMD3_uc003ynt.3_Missense_Mutation_p.G1185S|CSMD3_uc011lhx.2_Missense_Mutation_p.G1121S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1225	Sushi 6.					integral to membrane|plasma membrane				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						CGTCGGCCACCACCAAGACAG	0.507000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				65			23		0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156378712	156378712	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156378712G>A	uc003lwh.2	-	2	547	c.490C>T	c.(490-492)Cca>Tca	p.P164S	TIMD4_uc010jii.2_Missense_Mutation_p.P164S	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	164	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTGCAGCTGGGGTTGTTGTC	0.532000														184			83		0	0	1	0	0
FAM123A	219287	broad.mit.edu	37	13	25744230	25744230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25744230C>T	uc001uqb.3	-	0	1628	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	FAM123A_uc001uqa.3_Missense_Mutation_p.E391K|FAM123A_uc001uqc.3_Missense_Mutation_p.E391K	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	Homo sapiens family with sequence similarity 123A (FAM123A), transcript variant 1, mRNA.	510										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGCTCCTTCTCCGGGTGCTTG	0.652000														86			24		0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90020813	90020813	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90020813G>A	uc002bnz.2	-	6	1071	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	RHCG_uc002boa.2_Intron	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Homo sapiens Rh family, C glycoprotein (RHCG), mRNA.	349					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TGCCGCCTATGATGCCAGGAA	0.582000														73			6		0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134256002	134256002	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:134256002C>T	uc003eqo.1	+	6	896	c.447C>T	c.(445-447)ttC>ttT	p.F149F	CEP63_uc003eql.1_Silent_p.F149F|CEP63_uc003eqm.3_Silent_p.F149F|CEP63_uc003eqn.1_Silent_p.F149F	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	149					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTCAGGAATTCCGTCAGAAAT	0.463000														68			31		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56387432	56387432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56387432C>T	uc002ivx.4	-	20	4658	c.3787G>A	c.(3787-3789)Gaa>Aaa	p.E1263K	BZRAP1_uc010dcs.3_Missense_Mutation_p.E1203K|BZRAP1_uc010wnt.2_Missense_Mutation_p.E1263K	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1263	Poly-Glu.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					tcttcctcttcctcctGGATG	0.577000														65			28		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123489863	123489863	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:123489863C>T	uc001uej.1	-	5	1075	c.876G>A	c.(874-876)ggG>ggA	p.G292G	PITPNM2_uc001uek.1_Silent_p.G292G|PITPNM2_uc009zxu.1_Silent_p.G292G	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	292					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CTAGGGGCTCCCCATTGCTGC	0.647000														52			26		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502112	90502112	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90502112G>A	uc004app.4	+	3	2745	c.2710G>A	c.(2710-2712)Gga>Aga	p.G904R	FAM75E1_uc004apo.1_Missense_Mutation_p.G716R	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	904						integral to membrane											GAATGGTCCAGGAGACAACAG	0.597000														60			10		0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30881934	30881934	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:30881934G>A	uc001rji.1	-	7	2181	c.1430C>T	c.(1429-1431)cCt>cTt	p.P477L	CAPRIN2_uc001rjf.1_Missense_Mutation_p.P274L|CAPRIN2_uc001rjg.1_Missense_Mutation_p.P144L|CAPRIN2_uc001rjh.1_Missense_Mutation_p.P477L|CAPRIN2_uc001rjk.4_Missense_Mutation_p.P477L|CAPRIN2_uc001rjj.1_Missense_Mutation_p.P144L|CAPRIN2_uc001rjl.4_Missense_Mutation_p.P477L|CAPRIN2_uc001rjm.1_Missense_Mutation_p.P144L|CAPRIN2_uc001rjn.1_Missense_Mutation_p.P144L	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	477					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTTGGATTTAGGTGTATCTTG	0.468000														125			62		0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9498830	9498830	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9498830C>T	uc002wni.2	+	4	1114	c.619C>T	c.(619-621)Cac>Tac	p.H207Y	LAMP5_uc010zrc.2_Missense_Mutation_p.H163Y	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	207						integral to membrane											GTCTGCGGTCCACATCCAACC	0.483000														78			5		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19184088	19184088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19184088C>T	uc002dfw.3	+	1	353	c.22C>T	c.(22-24)Cca>Tca	p.P8S	SYT17_uc002dfx.3_5'UTR|SYT17_uc002dfy.3_Missense_Mutation_p.P4S	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	8						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GCAGTTGGAACCATTAAACGA	0.433000														59			14		0	0	1	0	0
FAM3D	131177	broad.mit.edu	37	3	58620087	58620087	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58620087C>T	uc003dkq.3	-	9	891	c.594G>A	c.(592-594)aaG>aaA	p.K198K		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	Homo sapiens family with sequence similarity 3, member D (FAM3D), mRNA.	198					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CTGGGCTGTTCTTTAAGAACT	0.507000														79			34		0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46327170	46327170	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:46327170C>T	uc010haa.2	-	2	517	c.390G>A	c.(388-390)ggG>ggA	p.G130G	WNT7B_uc003bgo.2_Silent_p.G126G	NM_058238	NP_478679	P56706	WNT7B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7B (WNT7B), mRNA.	126					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	p.S129N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCAGGTTCCCTTGGCTGC	0.687000														47			25		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431120	135431120	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:135431120C>T	uc004ezu.1	+	5	5546	c.5255C>T	c.(5254-5256)tCa>tTa	p.S1752L	GPR112_uc010nsb.1_Missense_Mutation_p.S1547L|GPR112_uc010nsc.1_Missense_Mutation_p.S1519L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1752					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATATGCTTTCACCTACTCAT	0.413000														76			50		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157650834	157650834	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157650834G>A	uc001fqz.4	-	11	2186	c.1894C>T	c.(1894-1896)Cct>Tct	p.P632S	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.P358S|FCRL3_uc001frb.3_Missense_Mutation_p.P632S|FCRL3_uc001frc.1_Missense_Mutation_p.P632S	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	632						integral to membrane|plasma membrane	receptor activity	p.D631H(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGCTCTTGAGGGTCTATCCTG	0.542000														36			16		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185012502	185012502	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:185012502C>T	uc003iwc.3	-	7	1293	c.1151G>A	c.(1150-1152)aGg>aAg	p.R384K		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	384					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GTCCACCGACCTGATAGGAGC	0.542000														98			8		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38131207	38131207	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38131207C>T	uc003atr.3	+	8	5135	c.4864C>T	c.(4864-4866)Cct>Tct	p.P1622S	TRIOBP_uc003atu.3_Missense_Mutation_p.P1450S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1622					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AAACGATGTCCCTGAGCAGGA	0.677000											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			20		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121290766	121290766	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:121290766G>A	uc003yox.3	+	27	3695	c.3430G>A	c.(3430-3432)Gga>Aga	p.G1144R	COL14A1_uc003yoz.3_Missense_Mutation_p.G109R	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1144	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TATAACTGATGGAAGATCACA	0.373000														46			20		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55351112	55351112	+	Missense_Mutation	SNP	G	A	A	rs111312586	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55351112G>A	uc002qhm.1	+	4	644	c.598G>A	c.(598-600)Gag>Aag	p.E200K	KIR3DL2_uc010yfj.2_Silent_p.T193T|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Silent_p.T200T|KIR3DL2_uc002qhn.1_Intron	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	303	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CGCTCCCTACGAGTGGTCAAA	0.567000														76			117		0	0	1	0	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086784	46086784	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46086784G>A	uc002zfu.3	-	0	61	c.20C>T	c.(19-21)tCc>tTc	p.S7F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	Homo sapiens keratin associated protein 12-2 (KRTAP12-2), mRNA.	7						keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						GCAGCCCGAGGAGCAGCTGGT	0.667000														16			9		0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153219	5153219	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5153219G>A	uc010qyx.2	-	0	654	c.654C>T	c.(652-654)acC>acT	p.T218T		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T218A(1)|p.I217M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CATAGGACAAGGTTATAAATA	0.423000														70			36		0	0	1	0	0
WNT11	7481	broad.mit.edu	37	11	75898246	75898246	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:75898246C>T	uc001oxe.3	-	4	1051	c.928G>A	c.(928-930)Gac>Aac	p.D310N		NM_004626	NP_004617	O96014	WNT11_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.	310					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|Ras GTPase activator activity|protein kinase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CACATAAGGTCGCAGCTGTCG	0.607000														41			22		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51265502	51265502	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:51265502G>A	uc011bds.2	+	16	1653	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	544	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGATATTCACGAGCTTTATGT	0.478000														31			18		0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33327494	33327494	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:33327494G>A	uc010abf.3	+	24	2947	c.2761G>A	c.(2761-2763)Gtg>Atg	p.V921M	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	921					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGTAAGACAAGTGTTTGCCCA	0.383000														98			38		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903942	5903942	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:5903942G>A	uc002wmg.3	+	3	1458	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	CHGB_uc010zqz.2_Silent_p.E67E	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	384						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGGATGAGGAGGACAAGAGAA	0.552000														125			27		0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3255061	3255061	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3255061C>T	uc010uwu.2	+	0	815	c.815C>T	c.(814-816)aCt>aTt	p.T272I		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GAGAAAGACACTATGGCTACT	0.468000														144			40		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475396	120475396	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:120475396C>T	uc004bjz.3	+	2	1281	c.990C>T	c.(988-990)ttC>ttT	p.F330F	TLR4_uc004bkb.3_Silent_p.F130F|TLR4_uc004bka.3_Silent_p.F290F	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	330					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.F330F(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CTTATAATTTCGGATGGCAAC	0.323000														77			20		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41015551	41015551	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41015551C>T	uc003jmj.4	-	28	3404	c.2914G>A	c.(2914-2916)Ggt>Agt	p.G972S	HEATR7B2_uc003jmi.4_Missense_Mutation_p.G527S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	972							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						TCCTGCAAACCCTGCAGTCTT	0.413000														53			19		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228175562	228175562	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228175562G>A	uc002vom.2	+	50	4988	c.4826G>A	c.(4825-4827)cGa>cAa	p.R1609Q	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron|COL4A3_uc010fxf.2_Missense_Mutation_p.R25Q|COL4A3_uc021vxt.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1609	Collagen IV NC1.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAAGAATTCCGAGCCAGCCCA	0.463000														83			19		0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60557969	60557969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60557969G>A	uc001npz.1	+	1	257	c.161G>A	c.(160-162)aGc>aAc	p.S54N		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	54						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CAGAAGAAGAGCAGCCTTCTT	0.632000														63			23		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128491636	128491636	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128491636C>T	uc003vnz.4	+	34	6005	c.5796C>T	c.(5794-5796)ttC>ttT	p.F1932F	FLNC_uc003voa.4_Silent_p.F1899F	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1932					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCGTGCGCTTCGATGACAAGC	0.577000														70			29		0	0	1	0	0
FAM217B	63939	broad.mit.edu	37	20	58519433	58519433	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:58519433C>T	uc021wft.1	+	0	435	c.435C>T	c.(433-435)ttC>ttT	p.F145F	FAM217B_uc002yba.3_Silent_p.F145F|FAM217B_uc002ybc.3_Silent_p.F145F|FAM217B_uc010zzx.2_Intron	NM_001190827	NP_001177756	Q9NTX9	CT177_HUMAN	Homo sapiens chromosome 20 open reading frame 177 (C20orf177), transcript variant 3, mRNA.	145																	ATCCTAATTTCCTTCCATCCC	0.483000														101			8		0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125875776	125875776	+	Missense_Mutation	SNP	G	A	A	rs145492265		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:125875776G>A	uc009zbw.3	-	8	1857	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	CDON_uc001qdb.4_5'Flank|CDON_uc001qdc.4_Missense_Mutation_p.P577S|CDON_uc001qdd.4_Non-coding_Transcript	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	577	Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	p.P577S(2)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GGGGCATCAGGAACAGAGATG	0.562000														76			33		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230231657	230231657	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:230231657C>T	uc002vpv.3	-	11	2181	c.2034G>A	c.(2032-2034)gaG>gaA	p.E678E		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	678	Interaction with AP1G1 and somatodendritic targeting (By similarity).				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGTAGAACTCCTCATAGGCTG	0.582000														47			22		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13717553	13717553	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13717553G>A	uc003jfd.2	-	72	12618	c.12576C>T	c.(12574-12576)caC>caT	p.H4192H	DNAH5_uc003jfc.2_Silent_p.H360H	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4192	AAA 6 (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)					GGACAGTGGAGTGCAGGAAAG	0.547000									Kartagener syndrome					43			14		0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68160436	68160436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:68160436C>T	uc002evo.2	+	2	1640	c.1324C>T	c.(1324-1326)Cat>Tat	p.H442Y	NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Missense_Mutation_p.H442Y|NFATC3_uc002evm.2_Missense_Mutation_p.H442Y|NFATC3_uc002evn.2_Missense_Mutation_p.H442Y|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	442	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ACCTAAAACTCATCATCGAGC	0.438000														60			35		0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187093119	187093119	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187093119G>A	uc003iyt.4	+	13	2006	c.1427G>A	c.(1426-1428)aGg>aAg	p.R476K	FAM149A_uc010isl.3_Missense_Mutation_p.R476K|FAM149A_uc011clb.2_Missense_Mutation_p.R475K	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	767										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		ACTTTCAAGAGGAGATTCCAA	0.418000														96			13		0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119962183	119962183	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:119962183C>T	uc001ehs.3	+	1	1058	c.285C>T	c.(283-285)tcC>tcT	p.S95S	HSD3B2_uc021ost.1_Silent_p.S95S|HSD3B2_uc001eht.3_Silent_p.S95S|HSD3B2_uc001ehu.3_Silent_p.S95S	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	95					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	ACAGAGAGTCCATCATGAATG	0.463000														62			33		0	0	1	0	0
ZNF74	7625	broad.mit.edu	37	22	20760277	20760277	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:20760277C>T	uc010gsm.3	+	5	1166	c.954C>T	c.(952-954)tcC>tcT	p.S318S	ZNF74_uc002zsg.3_Silent_p.S247S|ZNF74_uc002zsh.3_Silent_p.S318S|ZNF74_uc002zsi.3_Silent_p.S247S|ZNF74_uc010gsn.3_Silent_p.S247S	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.	318					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCACTCGTCCCTCAACGTGC	0.657000														79			35		0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129929579	129929579	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:129929579C>T	uc003vpq.3	+	10	1271	c.1252C>T	c.(1252-1254)Ccc>Tcc	p.P418S		NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	418					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GCGAGACCACCCCTATTAGGG	0.522000														64			28		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65627693	65627693	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65627693G>A	uc002aos.2	-	3	873	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	207	Ig-like C2-type 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCACACAGTGGAAGATGCCAC	0.597000														67			64		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14791399	14791399	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:14791399G>A	uc010dlo.2	+	16	1915	c.1735_splice	c.e16-1	p.S579_splice	ANKRD30B_uc010xak.2_Splice_Site|ANKRD30B_uc021uhy.1_Splice_Site_p.S579_splice	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	579										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACTTTTAACAGAGTCCCTGTG	0.299000														72			13		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123283252	123283252	+	Silent	SNP	C	T	T	rs35817975		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:123283252C>T	uc003ieh.3	+	83	14913	c.14868C>T	c.(14866-14868)ggC>ggT	p.G4956G	KIAA1109_uc003iem.3_Silent_p.G1312G	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4956					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAAATTGGGCTTTCATCATG	0.353000														166			29		0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210187104	210187104	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:210187104C>T	uc001hhs.4	+	3	381	c.323C>T	c.(322-324)tCa>tTa	p.S108L	SYT14_uc001hht.4_Missense_Mutation_p.S63L|SYT14_uc010psn.2_Missense_Mutation_p.S108L|SYT14_uc001hhu.4_Non-coding_Transcript|SYT14_uc010pso.2_Missense_Mutation_p.S25L|SYT14_uc009xcv.3_Missense_Mutation_p.S63L	NM_001146261	NP_001139733	Q8NB59	SYT14_HUMAN	Homo sapiens synaptotagmin XIV (SYT14), transcript variant 1, mRNA.	63						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		GATCTTGGTTCAGAATACAGT	0.328000														126			43		0	0	1	0	0
SLC38A9	153129	broad.mit.edu	37	5	54929585	54929585	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:54929585G>A	uc003jqf.2	-	13	2019	c.1427C>T	c.(1426-1428)cCt>cTt	p.P476L	SLC38A9_uc003jqd.2_Missense_Mutation_p.P413L|SLC38A9_uc010ivx.2_Missense_Mutation_p.P413L|SLC38A9_uc003jqe.2_Non-coding_Transcript|SLC38A9_uc010ivy.2_Missense_Mutation_p.P347L	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	Homo sapiens solute carrier family 38, member 9 (SLC38A9), mRNA.	476					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				CCCTTACCTAGGATAAATGTC	0.458000														33			15		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911199	230911199	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:230911199C>T	uc002vqd.2	-	3	1102	c.643G>A	c.(643-645)Ggt>Agt	p.G215S	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.G215S|SLC16A14_uc002vqf.3_Missense_Mutation_p.G215S	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	215						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GGGTTTTTACCAGGAGAGAGG	0.552000														81			43		0	0	1	0	0
TNNT3	7140	broad.mit.edu	37	11	1955049	1955049	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1955049C>T	uc001luu.4	+	9	482	c.270C>T	c.(268-270)gtC>gtT	p.V90V	TNNT3_uc001lun.2_Intron|TNNT3_uc001luw.4_Silent_p.V82V|TNNT3_uc001luo.4_Silent_p.V82V|TNNT3_uc001lup.4_Silent_p.V88V|TNNT3_uc001luq.4_Silent_p.V82V|TNNT3_uc001lur.3_Silent_p.V82V|TNNT3_uc010qxf.2_Silent_p.V88V|TNNT3_uc010qxg.2_Silent_p.V22V	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	101					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		AGGAGCTGGTCGCTCTCAAAG	0.597000														68			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179631337	179631337	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179631337G>A	uc021vsy.1	-	40	9699	c.9474C>T	c.(9472-9474)gtC>gtT	p.V3158V	TTN_uc021vsz.1_Silent_p.V3112V|TTN_uc021vta.1_Silent_p.V3112V|TTN_uc021vtb.1_Silent_p.V3112V|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Silent_p.V3158V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3158							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R3158*(1)		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)			GTTTCTCAATGACCTGTTGAT	0.368000														43			14		0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176295654	176295655	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176295654_176295655CC>TT	uc003mey.3	+	3	721_722	c.529_530CC>TT	c.(529-531)cct>TTt	p.P177F	UNC5A_uc003mex.1_Missense_Mutation_p.P177F|UNC5A_uc010jkg.1_Missense_Mutation_p.P137F	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	177	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGGGCATCCCTCCAGCCGAG	0.668000														6			3		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915014	119915014	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:119915014G>A	uc003vjj.1	+	0	1293	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	110					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.H109H(2)		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)					TCCTCGCCACGAGTGCATCTC	0.527000														199			53		0	0	1	0	0
MR1	3140	broad.mit.edu	37	1	181021631	181021631	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181021631C>T	uc001goq.2	+	4	1026	c.865C>T	c.(865-867)Ctt>Ttt	p.L289F	MR1_uc001gor.2_Missense_Mutation_p.L244F|MR1_uc001gos.2_Intron|MR1_uc010pns.2_Intron	NM_001531	NP_001522	Q95460	HMR1_HUMAN	Homo sapiens major histocompatibility complex, class I-related (MR1), transcript variant 1, mRNA.	289	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	MHC class I protein complex|endoplasmic reticulum|extracellular region|integral to membrane	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						CCACATGGTTCTTCAGGTCCC	0.582000														37			19		0	0	1	0	0
FXYD5	53827	broad.mit.edu	37	19	35657175	35657175	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35657175G>A	uc010xsq.2	+	7	522	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	FXYD5_uc002nyg.2_Missense_Mutation_p.R145Q|FXYD5_uc021usk.1_Missense_Mutation_p.R145Q|FXYD5_uc002nyh.2_Missense_Mutation_p.R145Q|FXYD5_uc021usl.1_Missense_Mutation_p.R145Q|FXYD5_uc002nyi.2_Missense_Mutation_p.R82Q|FXYD5_uc002nyj.1_5'Flank	NM_144779	NP_659003	Q96DB9	FXYD5_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 5 (FXYD5), transcript variant 1, mRNA.	145					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTCCGGAAACGGGGGCTGTTG	0.547000														270			72		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12121044	12121044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:12121044C>T	uc003nac.3	+	3	1195	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTAACTTCACCTTCCAGTAGA	0.433000														143			65		0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925457	4925457	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:4925457C>T	uc004fqo.3	+	0	1327	c.593C>T	c.(592-594)cCt>cTt	p.P198L	PCDH11Y_uc010nwg.1_Missense_Mutation_p.P187L|PCDH11Y_uc004fql.1_Missense_Mutation_p.P187L|PCDH11Y_uc004fqm.1_Missense_Mutation_p.P187L|PCDH11Y_uc004fqn.1_Missense_Mutation_p.P198L	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	198	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCTGTTGATCCTGACGTAGGC	0.348000														29			42		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841514	100841514	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:100841514C>T	uc003pqj.4	-	9	1886	c.1419G>A	c.(1417-1419)gaG>gaA	p.E473E	SIM1_uc021zdg.1_Silent_p.E473E|SIM1_uc010kcu.3_Silent_p.E473E	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	473	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ACCTGCCTGCCTCACATCGGC	0.642000														73			9		0	0	1	0	0
CPOX	1371	broad.mit.edu	37	3	98312019	98312019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:98312019G>A	uc003dsx.3	-	0	437	c.330C>T	c.(328-330)gcC>gcT	p.A110A	CPOX_uc011bgz.2_Silent_p.A110A	NM_000097	NP_000088	P36551	HEM6_HUMAN	Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA.	110						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCAGCGAAGTGGCCCGCGTCC	0.726000														15			8		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282195	152282195	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152282195C>T	uc001ezu.1	-	2	5203	c.5167G>A	c.(5167-5169)Gag>Aag	p.E1723K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1723	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGTCCCTCGCTGTCACTG	0.597000									Ichthyosis					343			144		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14368958	14368958	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:14368958C>T	uc003jff.3	+	16	3022	c.3016C>T	c.(3016-3018)Cgc>Tgc	p.R1006C	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.R957C|TRIO_uc003jfh.1_Missense_Mutation_p.R655C	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1006					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GATGGAAGATCGCCTCAAGCT	0.532000														98			41		0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167512518	167512518	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:167512518C>T	uc003ffa.4	+	4	985	c.787C>T	c.(787-789)Cct>Tct	p.P263S	SERPINI1_uc003ffb.4_Missense_Mutation_p.P263S	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	263					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						ACAGGAAGTTCCTCTTGCTAC	0.448000														42			23		0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40655966	40655966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40655966C>T	uc001zlk.1	+	1	349	c.260C>T	c.(259-261)cCc>cTc	p.P87L		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	87					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCATCCAGCCCCTTGGCCCCT	0.652000														86			24		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94032040	94032040	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:94032040G>A	uc011cdt.2	+	3	929	c.671G>A	c.(670-672)cGa>cAa	p.R224Q	GRID2_uc010ikx.3_Missense_Mutation_p.R224Q|GRID2_uc011cdu.2_Missense_Mutation_p.R129Q|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	224					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AATCGCTATCGAGACACTCTT	0.408000														93			35		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193650	152193650	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152193650G>A	uc001ezt.1	-	2	531	c.455C>T	c.(454-456)aCt>aTt	p.T152I		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	152					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATGGATTCAGTCCCAGGTTT	0.438000														125			10		0	0	1	0	0
ZNF467	168544	broad.mit.edu	37	7	149468110	149468110	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149468110G>A	uc003wgd.2	-	1	153	c.12C>T	c.(10-12)acC>acT	p.T4T	ZNF467_uc003wgc.3_Silent_p.T4T	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	Homo sapiens zinc finger protein 467 (ZNF467), mRNA.	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCCTCCAAGGTCTCTCTCA	0.542000														91			31		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23906980	23906980	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:23906980G>A	uc001uon.2	-	9	11624	c.11035C>T	c.(11035-11037)Ctt>Ttt	p.L3679F	SACS_uc001uoo.2_Missense_Mutation_p.L3532F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3679					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTTTATAAGAGGAAGTGTT	0.408000														77			28		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174906	51174906	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:51174906G>A	uc021tif.1	-	1	1258	c.936C>T	c.(934-936)atC>atT	p.I312I	SALL1_uc021tid.1_Silent_p.I312I|SALL1_uc021tie.1_Silent_p.I409I|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	409					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAGTTGTTCCGATGTTGGGCA	0.478000														106			37		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621371	65621371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65621371G>A	uc002aos.2	-	13	2573	c.2321C>T	c.(2320-2322)gCt>gTt	p.A774V	IGDCC3_uc002aor.1_Missense_Mutation_p.A60V	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	774										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCGCAGGGAGCCGTGGCCTC	0.711000														13			17		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90212209	90212209	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:90212209G>A	uc010yts.2	+	37		c.4896G>A								Parts of antibodies, mostly variable regions.																		CCTAGAGCCTGAAGATTTTGC	0.502000														72			39		0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17787380	17787380	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:17787380C>T	uc003zna.3	+	4	622	c.334C>T	c.(334-336)Cca>Tca	p.P112S	SH3GL2_uc011lmx.1_Missense_Mutation_p.P77S|SH3GL2_uc011lmy.2_Missense_Mutation_p.P65S	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	112	BAR.|Binds and tubulates liposomes (By similarity).				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TCTCCTAGGCCCAGCACTTGG	0.468000														131			13		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857051	210857051	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:210857051C>T	uc001hib.2	-	10	2712	c.2542G>A	c.(2542-2544)Gag>Aag	p.E848K	KCNH1_uc001hic.2_Missense_Mutation_p.E821K	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	848					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTCCAGTCCTCACTCTTCCCG	0.612000														97			38		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564036	176564037	+	Silent	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176564036_176564037CC>TT	uc001gkz.3	+	2	2460_2461	c.1296_1297CC>TT	c.(1294-1299)gccctg>gcTTtg	p.432_433AL>AL	PAPPA2_uc001gky.1_Silent_p.432_433AL>AL|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	432					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTCGACCGCCCTGCCACAAAG	0.559000														83			29		0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877393	2877393	+	Missense_Mutation	SNP	G	A	A	rs35499960	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:2877393G>A	uc002lwp.1	+	3	524	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	ZNF556_uc002lwq.3_Missense_Mutation_p.R145Q	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	146			R -> L (in dbSNP:rs35499960).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R146R(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		AGTGTAAGACGGTACGAATGC	0.393000														110			37		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113303820	113303820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:113303820G>A	uc003ynu.3	-	55	9052	c.8893C>T	c.(8893-8895)Cct>Tct	p.P2965S	CSMD3_uc003yns.3_Missense_Mutation_p.P2167S|CSMD3_uc003ynt.3_Missense_Mutation_p.P2925S|CSMD3_uc011lhx.2_Missense_Mutation_p.P2796S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2965	Sushi 20.					integral to membrane|plasma membrane		p.P2965S(2)|p.P2965T(2)|p.P2925S(1)		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						AAATATCCAGGATTGCAGTCA	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				91			22		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171092543	171092543	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:171092543C>T	uc002ufy.3	+	6	789	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	MYO3B_uc002ufv.3_Missense_Mutation_p.R203C|MYO3B_uc010fqb.1_Missense_Mutation_p.R216C|MYO3B_uc002ufz.3_Missense_Mutation_p.R216C|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Missense_Mutation_p.R203C	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	216	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTATGACGCTCGCTGTGACGT	0.493000											OREG0014376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		110			49		0	0	1	0	0
C2orf62	375307	broad.mit.edu	37	2	219232205	219232205	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219232205G>A	uc002vhr.3	+	8	914	c.885G>A	c.(883-885)gaG>gaA	p.E295E	BC038211_uc002vht.3_Intron	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	Homo sapiens chromosome 2 open reading frame 62 (C2orf62), mRNA.	295										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TATGGGAGGAGGATATGGAGC	0.567000														93			39		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3319755	3319755	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:3319755C>T	uc003ggw.3	+	1	2762	c.1858C>T	c.(1858-1860)Cga>Tga	p.R620*	RGS12_uc003ggu.2_Nonsense_Mutation_p.R620*|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Nonsense_Mutation_p.R620*|RGS12_uc003ggx.1_Nonsense_Mutation_p.R620*	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	620						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCGAAATGTTCGAAAGACTAA	0.582000														117			62		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72960115	72960115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:72960115G>A	uc003pga.3	+	12	2401	c.2324G>A	c.(2323-2325)gGa>gAa	p.G775E	RIMS1_uc011dyb.2_Missense_Mutation_p.G401E|RIMS1_uc003pgc.3_Missense_Mutation_p.G401E|RIMS1_uc010kaq.3_Missense_Mutation_p.G249E|RIMS1_uc011dyc.2_Missense_Mutation_p.G249E|RIMS1_uc010kar.3_Missense_Mutation_p.G168E|RIMS1_uc011dyd.2_Missense_Mutation_p.G234E|RIMS1_uc003pge.3_5'UTR|RIMS1_uc003pgf.3_5'UTR|RIMS1_uc003pgi.3_5'UTR|RIMS1_uc003pgg.3_5'UTR|RIMS1_uc003pgh.3_5'UTR|RIMS1_uc003pgd.3_5'UTR|RIMS1_uc011dye.2_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.G401E|RIMS1_uc010kas.1_Missense_Mutation_p.G234E	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	775	C2 1.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGAGTAGATGGACGTCCTCGA	0.348000														19			9		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167863177	167863177	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167863177G>A	uc001ger.3	-	7	1040	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	ADCY10_uc010plj.2_Missense_Mutation_p.L95F|ADCY10_uc009wvk.3_Missense_Mutation_p.L156F|ADCY10_uc009wvl.3_Missense_Mutation_p.L247F|ADCY10_uc009wvm.2_Non-coding_Transcript	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	248					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGCCTCAGGAGGTCTAAGAAG	0.502000														28			9		0	0	1	0	0
DDX55	57696	broad.mit.edu	37	12	124090660	124090660	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124090660T>A	uc001ufi.3	+	2	224	c.200T>A	c.(199-201)aTc>aAc	p.I67N	DDX55_uc001ufh.3_5'UTR|DDX55_uc001ufj.1_5'UTR|DDX55_uc001ufk.3_5'Flank	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 (DDX55), mRNA.	67	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding	p.P66L(1)|p.I67M(1)|p.P66R(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GTCATCCCCATCCTGGAAATT	0.423000														46			13		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1443182	1443182	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:1443182G>A	uc003boz.3	+	20	3037	c.2770G>A	c.(2770-2772)Gag>Aag	p.E924K	CNTN6_uc011asj.2_Missense_Mutation_p.E852K|CNTN6_uc003bpa.3_Missense_Mutation_p.E924K	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	924	Fibronectin type-III 4.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane		p.E924D(1)		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)		CTTGAACTGGGAGCATGTAAA	0.353000														58			14		0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177190142	177190142	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:177190142G>A	uc003iuq.2	-	0	232	c.118C>T	c.(118-120)Cat>Tat	p.H40Y		NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	40					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATGTAGAAATGACTGAGGATG	0.403000														46			26		0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13935508	13935508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:13935508C>T	uc021zzz.1	-	11	1504	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	ETV1_uc021zzt.1_Missense_Mutation_p.E433K|ETV1_uc021zzu.1_Missense_Mutation_p.E370K|ETV1_uc021zzv.1_Missense_Mutation_p.E415K|ETV1_uc021zzw.1_3'UTR|ETV1_uc021zzx.1_3'UTR|ETV1_uc021zzy.1_3'UTR|ETV1_uc022aaa.1_Missense_Mutation_p.E455K|ETV1_uc022aab.1_3'UTR|ETV1_uc003ssw.4_Missense_Mutation_p.E450K|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_3'UTR|ETV1_uc022aad.1_3'UTR|ETV1_uc021zzs.1_5'Flank	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	473					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E473K(2)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACGTAGCCTTCGTTGTAGGGG	0.478000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""									19			8		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781919	128781919	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:128781919C>T	uc001qet.3	+	1	1065	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S	KCNJ5_uc009zck.3_Missense_Mutation_p.P251S|KCNJ5_uc001qew.3_Missense_Mutation_p.P251S	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	251					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GGAGTTCATCCCCCTGAACCA	0.592000														106			42		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221230	161221230	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:161221230G>A	uc011bpb.2	+	3	934	c.934G>A	c.(934-936)Gac>Aac	p.D312N		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	312	Collagen-like 3.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GCCGAAGGGTGACATTGGCAA	0.582000														23			8		0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5474840	5474840	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5474840G>A	uc010qzf.2	+	0	203	c.122G>A	c.(121-123)gGa>gAa	p.G41E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCCTTGGGGGAAATACAGTG	0.572000														52			28		0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17559460	17559460	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17559460C>T	uc001bah.1	+	10	1400	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	PADI1_uc010oco.1_5'Flank|PADI1_uc010ocp.1_5'Flank|PADI1_uc010ocq.1_5'Flank	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	436					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGAGCAGCTTCCCCAAGTGAG	0.657000														11			9		0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39883840	39883840	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:39883840G>A	uc003opb.3	-	2	693	c.555C>T	c.(553-555)gcC>gcT	p.A185A	MOCS1_uc003opa.3_Silent_p.A185A|MOCS1_uc003opd.3_Silent_p.A185A|MOCS1_uc003ope.3_Silent_p.A98A	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	185	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACTCAAACTTGGCAGGCACCA	0.597000														15			4		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70635117	70635117	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70635117G>A	uc001xly.3	-	1	777	c.23C>T	c.(22-24)cCt>cTt	p.P8L	SLC8A3_uc001xlw.3_Missense_Mutation_p.P8L|SLC8A3_uc001xlx.3_Missense_Mutation_p.P8L|SLC8A3_uc001xlz.3_Missense_Mutation_p.P8L|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	8					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGAGGTGAGAGGCTGCAACCT	0.537000														31			14		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68641181	68641181	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:68641181G>A	uc010bib.3	-	9	1205	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L	ITGA11_uc002ari.3_Missense_Mutation_p.S373L	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	373					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CACCACGTGCGAGGAAAAGCC	0.567000														15			6		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907882	12907882	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12907882C>T	uc010obf.2	-	1	487	c.261G>A	c.(259-261)gaG>gaA	p.E87E	LOC649330_uc009vno.2_Silent_p.E87E	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	87							nucleic acid binding|nucleotide binding										TCACTTTTGGCTCTGCAGCCA	0.478000														267			26		0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	397183	397183	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:397183G>A	uc021qbk.1	+	3	756	c.727G>A	c.(727-729)Ggg>Agg	p.G243R	PKP3_uc001lpc.3_Missense_Mutation_p.G228R	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	228					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGGGCAGGGGGGCTGGACTG	0.711000														31			21		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99514879	99514879	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:99514879G>A	uc003dti.1	+	2	2265	c.2137G>A	c.(2137-2139)Gac>Aac	p.D713N	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.D712N|COL8A1_uc003dth.1_Missense_Mutation_p.D712N	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	712	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII		p.R713W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CAGGCCCGGAGACCGGGTGTT	0.537000														42			20		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26242168	26242168	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26242168G>A	uc003abz.1	+	18	3720	c.3470G>A	c.(3469-3471)aGc>aAc	p.S1157N	MYO18B_uc003aca.1_Missense_Mutation_p.S1038N|MYO18B_uc010guy.1_Missense_Mutation_p.S1039N|MYO18B_uc010guz.1_Missense_Mutation_p.S1038N|MYO18B_uc011aka.1_Missense_Mutation_p.S311N|MYO18B_uc011akb.1_Missense_Mutation_p.S670N	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1157	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						CTGCAGAGGAGCCGCATGGTG	0.672000														32			12		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125148925	125148925	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125148925G>A	uc004bmg.1	+	8	1345	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	PTGS1_uc011lys.1_Intron|PTGS1_uc010mwb.1_Intron|PTGS1_uc004bmf.1_Intron|PTGS1_uc004bmh.1_Missense_Mutation_p.E295K|PTGS1_uc011lyt.1_Missense_Mutation_p.E295K	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	404					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.E404K(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	GTACAGCTACGAGCAGTTCTT	0.577000														106			26		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36869813	36869813	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36869813G>A	uc003cgj.3	-	22	8979	c.8731C>T	c.(8731-8733)Cgg>Tgg	p.R2911W		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2911					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTCTAGGCCGAAGCTCACCA	0.443000														20			10		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17353332	17353332	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:17353332C>T	uc002dfa.3	-	2	511	c.426G>A	c.(424-426)ccG>ccA	p.P142P		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	142					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTTTCTCTTTCGGCCGATGAG	0.478000														81			23		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47605684	47605684	+	Splice_Site	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47605684T>G	uc003gxm.3	-	20	2634	c.2541_splice	c.e20-1	p.G847_splice	CORIN_uc011bzf.2_Splice_Site_p.G708_splice|CORIN_uc011bzg.2_Splice_Site_p.G780_splice	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	847	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GCATTCTCTCTCCTAAAATTA	0.353000														41			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187260	140187261	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140187260_140187261GG>AA	uc003lhi.2	+	0	589_590	c.488_489GG>AA	c.(487-489)ggg>gAA	p.G163E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.G163E|PCDHAC2_uc011daa.2_Missense_Mutation_p.G163E	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	178	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G163V(2)		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)			GCAGATATCGGGGAGAACGCCC	0.525000														88			31		0	0	1	0	0
GHITM	27069	broad.mit.edu	37	10	85904638	85904638	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:85904638C>T	uc001kcs.1	+	4	553	c.349C>T	c.(349-351)Cct>Tct	p.P117S	GHITM_uc010qma.1_Intron|GHITM_uc010qmb.1_Missense_Mutation_p.P47S	NM_014394	NP_055209	Q9H3K2	GHITM_HUMAN	Homo sapiens growth hormone inducible transmembrane protein (GHITM), mRNA.	117					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CAGAATTTGGCCTCAGTATGT	0.398000														85			10		0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151263	158151263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158151263C>T	uc001frr.3	+	2	579	c.80C>T	c.(79-81)cCc>cTc	p.P27L	CD1D_uc009wsr.1_Missense_Mutation_p.P27L|CD1D_uc009wss.3_Missense_Mutation_p.P27L|CD1D_uc009wst.1_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	27					T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGGCTTTTCCCCCTCCGCTGC	0.592000														368			141		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553899	140553899	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140553899G>A	uc003lit.3	+	0	1657	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	495	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGTCCCAGGACCCGCACCT	0.662000														162			49		0	0	1	0	0
TAOK1	57551	broad.mit.edu	37	17	27857437	27857437	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:27857437C>T	uc002hdz.2	+	17	2355	c.2161C>T	c.(2161-2163)Caa>Taa	p.Q721*	TAOK1_uc010wbe.2_Nonsense_Mutation_p.Q573*	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	721					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TAAAGAACTCCAAATAAAAAA	0.353000														13			12		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075750	145075750	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:145075750C>T	uc001elo.3	-	0	437	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001emh.3_Missense_Mutation_p.R38Q|PDE4DIP_uc001emk.3_Non-coding_Transcript	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 3, mRNA.	712					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)		CTGAGGGGTTCGCGTCGCGTC	0.731000			T	PDGFRB	MPD									102			17		0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6245348	6245348	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6245348G>A	uc001mck.4	-	2	628	c.269C>T	c.(268-270)cCc>cTc	p.P90L	FAM160A2_uc001mcl.4_Missense_Mutation_p.P90L|FAM160A2_uc001mcm.2_Missense_Mutation_p.P90L	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	90					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGGCCTGTGGGGGCCGAGGG	0.627000														31			13		0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82644788	82644788	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:82644788G>A	uc001ozt.3	+	5	2652	c.2408G>A	c.(2407-2409)gGt>gAt	p.G803D	C11orf82_uc010rsr.2_Missense_Mutation_p.G502D|C11orf82_uc010rss.2_Missense_Mutation_p.G502D|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	803					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GATCTTGATGGTAACTATGAA	0.368000														39			18		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32233121	32233121	+	Silent	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:32233121T>G	uc011alu.2	+	25	2536	c.2334T>G	c.(2332-2334)ctT>ctG	p.L778L	DEPDC5_uc011als.2_Silent_p.L700L|DEPDC5_uc003als.3_Silent_p.L769L|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.L769L|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Silent_p.L218L|DEPDC5_uc011alw.1_Silent_p.L99L|DEPDC5_uc003alw.3_Silent_p.L67L|DEPDC5_uc011alx.2_5'UTR	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	769					intracellular signal transduction			p.D778D(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATGATCTCCTTCCAGAAGCAG	0.532000														88			8		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5235148	5235148	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:5235148C>T	uc003jdl.3	+	12	2010	c.1872C>T	c.(1870-1872)ttC>ttT	p.F624F	ADAMTS16_uc003jdk.1_Silent_p.F624F|ADAMTS16_uc010itk.1_Non-coding_Transcript	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	624	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAGGGAAGTTCTGTGAGGGCT	0.448000														62			25		0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179745905	179745905	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:179745905G>A	uc003mlw.1	-	9	944	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	282	Glutamine amidotransferase type-2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCACTGCGGCGATGTCATCGT	0.582000														32			19		0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921783	78921784	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:78921783_78921784GG>AA	uc002bed.1	-	4	975_976	c.863_864CC>TT	c.(862-864)acc>aTT	p.T288I	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.T106I	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	288					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CATCGAGGGAGGTGGGTGGCAC	0.564000														74			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595335	179595335	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179595335G>A	uc021vsy.1	-	57	14418	c.14193C>T	c.(14191-14193)ttC>ttT	p.F4731F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F1392F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5658	Ig-like 27.						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)			TGATTTCCAAGAAGGCAGTAT	0.453000														114			24		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39057574	39057574	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39057574C>T	uc002oit.3	+	91	13591	c.13461C>T	c.(13459-13461)ctC>ctT	p.L4487L	RYR1_uc002oiu.3_Silent_p.L4482L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4487	Pro-rich.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGAGGAGCTCCCGCCAGAGC	0.652000														13			4		0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59830030	59830030	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59830030C>T	uc001nom.3	+	2	374	c.246C>T	c.(244-246)ttC>ttT	p.F82F	MS4A3_uc001non.3_Intron|MS4A3_uc001noo.3_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	82	Poly-Phe.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				AAAAGCACTTCTTTTTCTTCA	0.453000														116			53		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72299495	72299495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72299495G>A	uc001jrd.4	+	14	2166	c.1885G>A	c.(1885-1887)Gac>Aac	p.D629N	KIAA1274_uc001jre.4_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	629										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						CCCCATGCCGGACTTCTGTGC	0.662000														66			23		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52556489	52556489	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:52556489G>A	uc010bff.3	-	8	1107	c.945C>T	c.(943-945)ttC>ttT	p.F315F	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_Missense_Mutation_p.S215L	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	315	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AATCCTCCTTGAAACCTAAAA	0.443000														31			11		0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99338587	99338587	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:99338587C>T	uc003htw.4	+	8	1170	c.980C>T	c.(979-981)cCa>cTa	p.P327L	RAP1GDS1_uc003htx.4_Missense_Mutation_p.P326L|RAP1GDS1_uc003htv.4_Missense_Mutation_p.P327L|RAP1GDS1_uc003htz.4_Missense_Mutation_p.P277L|RAP1GDS1_uc003hty.4_Missense_Mutation_p.P278L|RAP1GDS1_uc003hua.4_Missense_Mutation_p.P235L	NM_001100426	NP_001093896	P52306	GDS1_HUMAN	Homo sapiens RAP1, GTP-GDP dissociation stimulator 1 (RAP1GDS1), transcript variant 1, mRNA.	326							GTPase activator activity|binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TCTTGGATCCCATCAAATAAC	0.388000			T	NUP98	T-ALL									51			20		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26718782	26718782	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:26718782G>A	uc001mra.2	-	7	1282	c.969C>T	c.(967-969)gtC>gtT	p.V323V	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Silent_p.V323V	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	323					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ATATCTCCATGACAAAGTACG	0.378000														81			40		0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27505662	27505662	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27505662G>A	uc002rjo.3	+	0	366	c.63G>A	c.(61-63)gaG>gaA	p.E21E	TRIM54_uc002rjn.3_Silent_p.E21E	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	21					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAACCTGGAGAAGCAGCTCA	0.592000														196			74		0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231264925	231264925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:231264925G>A	uc010fxm.1	+	14	1372	c.1281G>A	c.(1279-1281)gaG>gaA	p.E427E	SP140L_uc010fxo.1_Silent_p.E199E	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	427						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TCTTCCATGAGGACTGCCACA	0.512000														66			25		0	0	1	0	0
LOC200726	200726	broad.mit.edu	37	2	207509150	207509150	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:207509150C>T	uc010fuh.1	+	1	365	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C		NM_001102659	NP_001096129			Homo sapiens hCG1657980 (LOC200726), mRNA.																LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)		GTGGAAACCTCGCGTTTCCAA	0.488000														35			5		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21690081	21690081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21690081G>A	uc001rfb.3	-	15	2174	c.1919C>T	c.(1918-1920)tCc>tTc	p.S640F		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	640					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGGTACTGAGGAAGGCCTGGG	0.443000														41			15		0	0	1	0	0
C1orf111	284680	broad.mit.edu	37	1	162344300	162344300	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:162344300C>T	uc001gbx.2	-	2	388	c.324G>A	c.(322-324)gaG>gaA	p.E108E		NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	Homo sapiens chromosome 1 open reading frame 111 (C1orf111), mRNA.	108								p.E108K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			CCAGCTGGCTCTCTTTGTCTG	0.572000														178			64		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239910	5239910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:5239910G>A	uc003jdl.3	+	15	2533	c.2395G>A	c.(2395-2397)Ggg>Agg	p.G799R	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G799R	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	799	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTACCTGAATGGGCACTGGAC	0.522000														107			33		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36218811	36218811	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36218811C>T	uc021usv.1	+	17	4422	c.4422C>T	c.(4420-4422)atC>atT	p.I1474I	MLL2_uc021usu.1_Silent_p.I288I	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	0	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGGTGGGCATCCTCATGCGGC	0.627000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				13			8		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198948911	198948911	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:198948911C>T	uc010fsp.3	+	1	1068	c.670C>T	c.(670-672)Cga>Tga	p.R224*	PLCL1_uc002uuv.4_Nonsense_Mutation_p.R145*	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	224					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCTGGTTTCTCGAAGTAAGCA	0.478000														85			33		0	0	1	0	0
DL492607	0	broad.mit.edu	37	11	113661321	113661321	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113661321C>T	uc001pof.1	+	0		c.1369C>T								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		TGAAGGAGTTCGTCTTTGATG	0.493000														69			63		0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596707	142596707	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:142596707G>A	uc004fbw.3	-	1	451	c.363C>T	c.(361-363)tcC>tcT	p.S121S		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	121										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCTGTGAGGATCCTTCAG	0.458000														43			69		0	0	1	0	0
WFDC5	149708	broad.mit.edu	37	20	43739057	43739057	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43739057G>A	uc002xne.2	-	2	440	c.351C>T	c.(349-351)tgC>tgT	p.C117C		NM_145652	NP_663627	Q8TCV5	WFDC5_HUMAN	Homo sapiens WAP four-disulfide core domain 5 (WFDC5), mRNA.	117	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CAGGATCCCGGCAATCCCGCC	0.607000														19			6		0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27553473	27553473	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:27553473G>A	uc001rht.2	+	9	1145	c.926G>A	c.(925-927)aGa>aAa	p.R309K	ARNTL2_uc001rhu.2_Missense_Mutation_p.R295K|ARNTL2_uc001rhv.2_Missense_Mutation_p.R261K|ARNTL2_uc001rhw.3_Missense_Mutation_p.R272K|ARNTL2_uc010sjp.2_Missense_Mutation_p.R272K|ARNTL2_uc009zji.2_Missense_Mutation_p.R275K|BC043511_uc001rhx.3_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	309					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TTAGAGCACAGAAAATTCTAT	0.294000														58			26		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41153949	41153949	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41153949C>T	uc003jmk.2	-	14	2463	c.2253G>A	c.(2251-2253)tgG>tgA	p.W751*	C6_uc003jml.1_Nonsense_Mutation_p.W751*	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	751	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				TGGGTGGTGTCCAGGAATTCC	0.473000														64			9		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51893112	51893112	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:51893112C>T	uc003pah.1	-	29	3678	c.3402G>A	c.(3400-3402)atG>atA	p.M1134I	PKHD1_uc003pai.3_Missense_Mutation_p.M1134I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1134	IPT/TIG 6; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCGTATAGTTCATCAGCCTCG	0.562000														86			25		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307140	140307140	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140307140C>T	uc003lih.2	+	0	839	c.663C>T	c.(661-663)atC>atT	p.I221I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.I221I	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	245	Cadherin 2.				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)			AAGTCACCATCATTGTGGTGG	0.582000														47			12		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771993	143771993	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143771993C>T	uc011ktx.2	+	0	681	c.681C>T	c.(679-681)atC>atT	p.I227I		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TTCTAAAGATCCAGTCAGGAG	0.478000														117			27		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10435015	10435015	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10435015C>T	uc010coi.3	-	21	2760	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E878K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	878					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E878G(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTTCCAGTTCCTTCCTTTTT	0.423000														41			38		0	0	1	0	0
GPT2	84706	broad.mit.edu	37	16	46931640	46931640	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:46931640C>T	uc002eel.3	+	2	418	c.324C>T	c.(322-324)ttC>ttT	p.F108F	GPT2_uc002eem.3_Silent_p.F8F	NM_133443	NP_001135938	Q8TD30	ALAT2_HUMAN	Homo sapiens glutamic pyruvate transaminase (alanine aminotransferase) 2 (GPT2), transcript variant 1, mRNA.	108					2-oxoglutarate metabolic process|L-alanine metabolic process|cellular amino acid biosynthetic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAATCACCTTCCTCCGGCAGG	0.657000														59			17		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31538324	31538324	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:31538324C>T	uc010dmi.3	-	6	1413	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	NOL4_uc010xbs.2_Missense_Mutation_p.G87E|NOL4_uc002kxr.4_Missense_Mutation_p.G208E|NOL4_uc010xbt.2_Missense_Mutation_p.G298E|NOL4_uc010dmh.3_Missense_Mutation_p.G298E|NOL4_uc010xbu.2_Missense_Mutation_p.G372E|NOL4_uc002kxt.4_Missense_Mutation_p.G372E|NOL4_uc010xbv.1_Missense_Mutation_p.G121E	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	372						nucleolus	RNA binding	p.G372A(2)		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						GTCCTCAGCTCCTCGGTCTAC	0.463000														204			34		0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123664559	123664559	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:123664559C>T	uc021xrm.1	+	2	1893	c.1512C>T	c.(1510-1512)ctC>ctT	p.L504L	BBS12_uc003ieu.3_Silent_p.L504L|BBS12_uc021xrn.1_Silent_p.L504L	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	504					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CGGCCGTGCTCACTAACCCAG	0.408000									Bardet-Biedl syndrome					97			31		0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55417934	55417934	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55417934G>A	uc002qib.2	+	2	162	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	NCR1_uc002qic.2_Missense_Mutation_p.E42K|NCR1_uc002qie.2_Missense_Mutation_p.E42K|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	42	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GGTTCCAAAGGAAAAGCAAGT	0.547000														91			44		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107732807	107732807	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107732807C>T	uc010ljo.1	-	12	1609	c.1525G>A	c.(1525-1527)Gat>Aat	p.D509N	LAMB4_uc003vey.2_Missense_Mutation_p.D509N	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	509	Laminin EGF-like 5; truncated.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCTCCAATATCACAGTCACAG	0.383000														58			24		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63005497	63005497	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:63005497G>A	uc001daq.3	-	25	3146	c.3112C>T	c.(3112-3114)Cca>Tca	p.P1038S	DOCK7_uc001dan.3_Missense_Mutation_p.P899S|DOCK7_uc001dao.3_Missense_Mutation_p.P899S|DOCK7_uc001dap.3_Missense_Mutation_p.P1007S|DOCK7_uc001dam.3_Missense_Mutation_p.P218S	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1038					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AAACGTTCTGGAAAACGACTT	0.348000														45			25		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247039	164247039	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:164247039G>A	uc003iqm.2	-	1	1133	c.668C>T	c.(667-669)cCa>cTa	p.P223L	NPY1R_uc021xtv.1_Missense_Mutation_p.P223L|NPY1R_uc011cjj.2_5'UTR	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	223					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAAACAAAGTGGACCAAAATA	0.353000														34			7		0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36784456	36784456	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36784456G>A	uc002xhr.3	-	2	326	c.226C>T	c.(226-228)Cgt>Tgt	p.R76C	TGM2_uc010zvx.2_Intron|TGM2_uc010zvy.2_Missense_Mutation_p.R16C|TGM2_uc002xhs.1_Intron|TGM2_uc002xht.3_Missense_Mutation_p.R76C|TGM2_uc002xhu.3_Missense_Mutation_p.R76C	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	76			R -> H (in dbSNP:rs41274720).		apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	AGTGGAAAACGGGCCTTGGTC	0.657000														21			5		0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124412747	124412747	+	Silent	SNP	C	T	T	rs61745404	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124412747C>T	uc010sam.2	-	0	804	c.804G>A	c.(802-804)gaG>gaA	p.E268E		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L267L(1)		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)		CTTTCCCTTGCTCGAGGGGCA	0.438000														73			24		0	0	1	0	0
DDI2	84301	broad.mit.edu	37	1	15978206	15978206	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:15978206C>T	uc001awx.2	+	7	1212	c.999C>T	c.(997-999)tcC>tcT	p.S333S	RSC1A1_uc009voj.2_5'UTR	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.	333					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CCAAGTGTTCCATCGACCTGA	0.448000														52			16		0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51160458	51160458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:51160458C>T	uc003bne.1	+	21	4245	c.4245C>T	c.(4243-4245)ttC>ttT	p.F1415F	SHANK3_uc003bnf.1_Silent_p.F862F	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1415										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		ACACCTCCTTCGCTGACGGAC	0.632000														11			13		0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148801858	148801858	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:148801858G>A	uc003wfj.3	-	3	1238	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	369					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCAGCCTTCCGGGAGAAGCTC	0.577000														102			32		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72431580	72431580	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:72431580C>T	uc001xna.4	+	1	595	c.72C>T	c.(70-72)atC>atT	p.I24I	RGS6_uc021rvv.1_Intron|RGS6_uc010ttn.2_Silent_p.I24I|RGS6_uc021rvw.1_Silent_p.I24I|RGS6_uc021rvx.1_Silent_p.I24I|RGS6_uc021rvy.1_Silent_p.I24I|RGS6_uc021rvz.1_Silent_p.I24I|RGS6_uc001xmy.4_Silent_p.I24I|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Silent_p.I24I|RGS6_uc021rwa.1_Silent_p.I24I|RGS6_uc021rwb.1_Silent_p.I24I	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	24					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAAACATGATCGTTTACTGCA	0.502000														64			23		0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106824192	106824192	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:106824192C>T	uc001tlp.3	+	13	1627	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	POLR3B_uc001tlq.3_Missense_Mutation_p.R411C	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	469					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GAGTGGTCCTCGCTCCCTCCA	0.493000														107			22		0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53286957	53286957	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:53286957C>T	uc001vhf.2	-	4	627	c.516G>A	c.(514-516)tgG>tgA	p.W172*	LECT1_uc001vhg.2_Nonsense_Mutation_p.W172*|LECT1_uc001vhh.2_Nonsense_Mutation_p.W161*	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	172	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CTACAGCCACCCAGATAAGAG	0.408000														78			31		0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59911343	59911343	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:59911343C>T	uc002age.3	+	2	1355	c.906C>T	c.(904-906)tcC>tcT	p.S302S	GCNT3_uc002agd.3_Silent_p.S302S|GCNT3_uc021smz.1_Silent_p.S302S	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	302					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGTGGCTTCCCGAGATTTCG	0.433000														167			70		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71538258	71538258	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:71538258G>A	uc004agu.3	+	11	1462	c.1157G>A	c.(1156-1158)aGa>aAa	p.R386K	PIP5K1B_uc011lrq.2_Missense_Mutation_p.R386K|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	386	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TATGCAGACAGATTTCTTAAG	0.328000														71			17		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142655514	142655514	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142655514C>T	uc003wcb.3	-	5	611	c.401_splice	c.e5-1	p.E134_splice		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	134					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AATTCTGGACCTCTAGAAAGG	0.488000														39			12		0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55168827	55168827	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:55168827C>T	uc001xbb.3	+	1	549	c.241C>T	c.(241-243)Ctc>Ttc	p.L81F	SAMD4A_uc001xba.3_Missense_Mutation_p.L82F|SAMD4A_uc001xbc.3_Missense_Mutation_p.L82F|SAMD4A_uc001xbf.2_Non-coding_Transcript|SAMD4A_uc001xbe.3_5'UTR	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	82					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						AGTGATTTCCCTCCTGTTAAC	0.423000														65			15		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551337	99551337	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:99551337G>A	uc010nmz.3	-	5	5061	c.3385C>T	c.(3385-3387)Ctg>Ttg	p.L1129L	PCDH19_uc004efw.4_Silent_p.L1081L|PCDH19_uc004efx.4_Silent_p.L1082L	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	1129					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L1129L(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCTTCCTTCAGAATGGGGCTG	0.512000														50			60		0	0	1	0	0
POMGNT1	55624	broad.mit.edu	37	1	46659974	46659974	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:46659974G>A	uc001cpg.3	-	8	1502	c.851C>T	c.(850-852)cCc>cTc	p.P284L	POMGNT1_uc010olx.2_Missense_Mutation_p.P262L|POMGNT1_uc010oly.2_Non-coding_Transcript|POMGNT1_uc010olz.2_Missense_Mutation_p.P141L|POMGNT1_uc001cpe.3_Missense_Mutation_p.P284L|POMGNT1_uc001cpf.3_5'UTR|POMGNT1_uc001cph.1_5'Flank|POMGNT1_uc001cpi.1_5'Flank	NM_001243766	NP_001230695	Q8WZA1	PMGT1_HUMAN	Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA.	284					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GATGGGTGTGGGGTCCTTGCA	0.602000														60			21		0	0	1	0	0
FAM75A3	727830	broad.mit.edu	37	9	40702682	40702682	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:40702682C>T	uc010mmj.3	+	3	368	c.339C>T	c.(337-339)gaC>gaT	p.D113D		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	113						integral to membrane				kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACAAAGGTGACTTTGGTCAGC	0.647000														32			13		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276773	152276773	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152276773C>T	uc001ezu.1	-	2	10625	c.10589G>A	c.(10588-10590)aGg>aAg	p.R3530K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3530	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCTTGTCCTGGGCCCCGC	0.577000									Ichthyosis					279			108		0	0	1	0	0
NAP1L3	4675	broad.mit.edu	37	X	92928218	92928218	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:92928218G>A	uc004efq.3	-	0	465	c.86C>T	c.(85-87)tCt>tTt	p.S29F	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	29	Ser-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TTCTTCCCCAGAATCACTAGT	0.557000														21			19		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71762184	71762184	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71762184C>T	uc010fen.3	+	14	1555	c.1414C>T	c.(1414-1416)Cct>Tct	p.P472S	DYSF_uc010fei.3_Missense_Mutation_p.P471S|DYSF_uc010feh.3_Missense_Mutation_p.P440S|DYSF_uc002sig.4_Missense_Mutation_p.P440S|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P471S|DYSF_uc010fee.3_Missense_Mutation_p.P440S|DYSF_uc010fef.3_Missense_Mutation_p.P471S|DYSF_uc002sie.3_Missense_Mutation_p.P440S|DYSF_uc010feo.3_Missense_Mutation_p.P472S|DYSF_uc010fej.3_Missense_Mutation_p.P441S|DYSF_uc010fel.3_Missense_Mutation_p.P441S|DYSF_uc010fem.3_Missense_Mutation_p.P441S|DYSF_uc002sif.3_Missense_Mutation_p.P441S|DYSF_uc010fek.3_Missense_Mutation_p.P472S	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	440	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GACGGCCAACCCTCAGTGGAA	0.627000														62			15		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107211030	107211030	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:107211030C>T	uc021ser.1	-	15		c.1344G>A								Parts of antibodies, mostly variable regions.																		GTGAACCTGCCTTTCACCGAC	0.527000														123			40		0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54184166	54184166	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:54184166G>A	uc004dsz.4	-	2	1068	c.985C>T	c.(985-987)Cac>Tac	p.H329Y	FAM120C_uc011moh.2_Missense_Mutation_p.H329Y	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	329										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						AGGCTCCAGTGAAAAGCAGCC	0.423000														9			10		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220348929	220348929	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220348929C>T	uc010fwg.3	+	29	6744	c.6744C>T	c.(6742-6744)atC>atT	p.I2248I		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2248	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ATGCTCAGATCATTCAGTCCC	0.687000														47			32		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120795706	120795706	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:120795706G>A	uc001ldu.3	-	21	4140	c.3994C>T	c.(3994-3996)Ccc>Tcc	p.P1332S	EIF3A_uc010qsu.2_Missense_Mutation_p.P1298S	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1332					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGAGCTGGGGGAGGAACTCGA	0.463000														100			20		0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13206217	13206217	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:13206217C>T	uc003nah.2	+	7	1208	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L	PHACTR1_uc011dir.2_Silent_p.L348L|PHACTR1_uc010jpc.3_Silent_p.L279L|PHACTR1_uc003nag.2_Silent_p.L279L	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	279						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CCACACTGTCCTGCCCTCCCA	0.662000														57			29		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54554948	54554948	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:54554948C>T	uc002iun.1	+	14	1917	c.1882C>T	c.(1882-1884)Ctt>Ttt	p.L628F		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	628										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AATCAAAGTTCTTGTTACCCA	0.393000														116			49		0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67183865	67183865	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:67183865G>A	uc010dfa.1	-	19	3166	c.2287C>T	c.(2287-2289)Cgc>Tgc	p.R763C	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.R364C	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	763					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTTAAGAAGCGAAGTGTTGCC	0.383000														85			33		0	0	1	0	0
C6orf170	221322	broad.mit.edu	37	6	121577399	121577399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:121577399G>A	uc003pyo.1	-	15	1834	c.1766C>T	c.(1765-1767)tCg>tTg	p.S589L	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc003pyp.1_Missense_Mutation_p.S108L	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	589					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	p.S589S(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		AAGTTTTTTCGAAAACTGGGC	0.338000														22			12		0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182755102	182755102	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:182755102G>A	uc003fle.3	-	12	1635	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	MCCC1_uc010hxi.3_Intron|MCCC1_uc011bqo.2_Non-coding_Transcript|MCCC1_uc003flf.3_Missense_Mutation_p.R383W|MCCC1_uc003flg.3_Missense_Mutation_p.R391W|MCCC1_uc011bqp.1_Missense_Mutation_p.R453W	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	500					biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	p.S499G(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GCAGCCTTCCGACTGAGCAAC	0.507000														80			6		0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165533037	165533037	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:165533037C>T	uc001gde.2	+	1	974	c.918C>T	c.(916-918)gtC>gtT	p.V306V	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	306						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CGAGCTCGGTCCAGGAGTTCC	0.567000														93			37		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24447200	24447200	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:24447200C>T	uc003ned.1	-	17	1797	c.1686G>A	c.(1684-1686)ctG>ctA	p.L562L		NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	562						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CCTCCACGTTCAGTTTTTCTA	0.453000														72			24		0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37707063	37707063	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37707063C>T	uc003arf.3	+	9	959	c.843C>T	c.(841-843)ttC>ttT	p.F281F	CYTH4_uc011amw.2_Silent_p.F224F	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	281	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GGCGCTGGTTCATCCTGACCG	0.627000														126			58		0	0	1	0	0
AGBL4	84871	broad.mit.edu	37	1	49052746	49052746	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:49052746G>A	uc010omx.1	-	10	1391	c.1233C>T	c.(1231-1233)acC>acT	p.T411T	AGBL4_uc001cru.2_Silent_p.T399T|AGBL4_uc010omw.1_Silent_p.T132T|AGBL4_uc010omy.1_Silent_p.T222T|AGBL4_uc001crv.1_Silent_p.T252T	NM_032785	NP_116174	Q5VU57	CBPC6_HUMAN	Homo sapiens ATP/GTP binding protein-like 4 (AGBL4), mRNA.	399					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		AGACCTCTAGGGTGTAGCAAT	0.562000														2			4		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333073	70333073	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70333073C>T	uc001oqc.3	-	20	3239	c.3127G>A	c.(3127-3129)Gat>Aat	p.D1043N	SHANK2_uc010rqn.2_Missense_Mutation_p.D519N|SHANK2_uc001opz.3_Missense_Mutation_p.D514N|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	730					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACATCCTCATCCCCCAGGTCT	0.697000														37			15		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58206895	58206895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:58206895C>T	uc001vhq.1	+	0	1107	c.215C>T	c.(214-216)cCg>cTg	p.P72L	PCDH17_uc010aec.1_Missense_Mutation_p.P72L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	72	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AACTCCGCACCGCACCTGCTG	0.687000														28			12		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672818	141672818	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141672818C>T	uc003vwx.1	-	0	756	c.672G>A	c.(670-672)atG>atA	p.M224I		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	224					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TCATTGTCCTCATGTGCCTTC	0.468000														62			24		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33133532	33133532	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33133532G>A	uc003ocx.1	-	62	4772	c.4544C>T	c.(4543-4545)tCg>tTg	p.S1515L	COL11A2_uc010jul.1_Missense_Mutation_p.S85L|COL11A2_uc003ocy.1_Missense_Mutation_p.S1429L|COL11A2_uc003ocz.1_Missense_Mutation_p.S1408L	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1515					cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCCATCCACCGAGCGCCGAGT	0.637000														83			35		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718682	25718682	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:25718682G>A	uc003xes.2	-	12	1490	c.1225C>T	c.(1225-1227)Ccc>Tcc	p.P409S	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	409					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGCTGGCTGGGATTCCTGGGG	0.527000														90			39		0	0	1	0	0
GRAMD2	196996	broad.mit.edu	37	15	72458995	72458995	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72458995C>T	uc002atq.3	-	6	545	c.521G>A	c.(520-522)aGg>aAg	p.R174K	GRAMD2_uc010bis.2_Missense_Mutation_p.R174K|GRAMD2_uc010ukh.2_5'Flank	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	174						integral to membrane		p.R174G(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						GCAGACTCTCCTCAGCAGGTC	0.552000														99			13		0	0	1	0	0
OBP2A	29991	broad.mit.edu	37	9	138440520	138440520	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:138440520C>T	uc004cgc.3	+	4	462	c.420C>T	c.(418-420)tcC>tcT	p.S140S	OBP2A_uc004cgb.3_Intron|OBP2A_uc010nau.3_Non-coding_Transcript|OBP2A_uc010nav.3_Missense_Mutation_p.P96S			Q9NY56	OBP2A_HUMAN	Homo sapiens odorant binding protein 2A (OBP2A), mRNA.	0					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		TGCCGCTGTCCCCACCTTGGC	0.597000														27			4		0	0	1	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103601679	103601679	+	Silent	SNP	C	T	T	rs146608837	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:103601679C>T	uc001ymm.1	+	10	2078	c.1947C>T	c.(1945-1947)tcC>tcT	p.S649S	TNFAIP2_uc010awo.1_Silent_p.S309S|TNFAIP2_uc010txz.1_Silent_p.S318S|TNFAIP2_uc010tya.1_Silent_p.S132S	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	649					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CCCTATTTTCCCTTATAAAGG	0.597000														215			97		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642586	156642586	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156642586G>A	uc001fpq.3	-	3	1527	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	465	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGTGCCAAGGAGGCATGGTC	0.627000														104			44		0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57672040	57672040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57672040C>T	uc002qoa.1	-	1	196	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	51						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		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;0.0123)		GTATTGATTTCTAAAGCAAGT	0.393000														100			28		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76521136	76521136	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76521136G>A	uc010dhp.2	-	24	3944	c.3819C>T	c.(3817-3819)caC>caT	p.H1273H		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGACCTCCCGGTGGCAGGCCT	0.657000														55			14		0	0	1	0	0
FABP3	2170	broad.mit.edu	37	1	31840289	31840289	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:31840289C>T	uc001bss.1	-	2	361	c.299G>A	c.(298-300)gGg>gAg	p.G100E		NM_004102	NP_004093	P05413	FABPH_HUMAN	Homo sapiens fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) (FABP3), mRNA.	100					negative regulation of cell proliferation					large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		GGTCTCTTGCCCGTCCCATTT	0.473000														193			81		0	0	1	0	0
RBM11	54033	broad.mit.edu	37	21	15599286	15599286	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:15599286C>T	uc002yjo.4	+	4	560	c.518C>T	c.(517-519)tCa>tTa	p.S173L	RBM11_uc002yjn.4_Missense_Mutation_p.S59L|RBM11_uc002yjp.4_Missense_Mutation_p.S59L	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	173							RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		GTGTCTTCCTCACTGAATCAT	0.453000														269			33		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70840074	70840074	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:70840074G>A	uc003pfc.1	+	18	1459	c.1342_splice	c.e18-1	p.G448_splice	COL19A1_uc010kam.2_Splice_Site_p.G344_splice	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	448	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCACCCCTAGGGAAATGATGA	0.368000														28			13		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389456	4389456	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4389456C>T	uc010qye.2	-	0	161	c.70G>A	c.(70-72)Gac>Aac	p.D24N		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTGCTGGTCCTGTAGGCCA	0.517000														22			19		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62329940	62329940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62329940G>A	uc001dab.3	+	19	2584	c.2470G>A	c.(2470-2472)Gaa>Aaa	p.E824K	INADL_uc009waf.1_Missense_Mutation_p.E824K|INADL_uc001daa.2_Missense_Mutation_p.E824K|INADL_uc001dad.3_Missense_Mutation_p.E521K|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	824					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTTTAAAGAAGAACTTGTGGA	0.373000														75			15		0	0	1	0	0
PROP1	5626	broad.mit.edu	37	5	177419863	177419863	+	Silent	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:177419863A>T	uc003mif.1	-	2	837	c.528T>A	c.(526-528)ccT>ccA	p.P176P		NM_006261	NP_006252	O75360	PROP1_HUMAN	Homo sapiens PROP paired-like homeobox 1 (PROP1), mRNA.	176					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGGCTGGGAAGGGAGGGCAT	0.622000														26			6		0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110232227	110232227	+	Silent	SNP	G	A	A	rs146929022		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:110232227G>A	uc001tpj.2	-	6	1493	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	TRPV4_uc001tpg.2_Silent_p.F432F|TRPV4_uc021rdp.1_Silent_p.F406F|TRPV4_uc001tph.2_Silent_p.F419F|TRPV4_uc001tpi.2_Silent_p.F359F|TRPV4_uc001tpk.2_Silent_p.F466F	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	466					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGACGGCCCCGAACTTGCGCC	0.602000														108			48		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768856	117768856	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117768856C>T	uc001twn.2	-	1	730	c.19G>A	c.(19-21)Ggt>Agt	p.G7S	NOS1_uc001twm.2_Missense_Mutation_p.G7S	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	7	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGCTGAACACCGAACATGTGA	0.527000														105			10		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769225	13769225	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13769225C>T	uc003jfd.2	-	57	9783	c.9741G>A	c.(9739-9741)atG>atA	p.M3247I	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3247	Stalk (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)					CCTGTGCTTTCATTGTCACTT	0.418000									Kartagener syndrome					222			93		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152847233	152847233	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:152847233G>A	uc021zhb.1	-	2	430	c.207C>T	c.(205-207)gtC>gtT	p.V69V	SYNE1_uc003qot.4_Silent_p.V69V|SYNE1_uc003qou.4_Silent_p.V69V|SYNE1_uc010kjb.1_Silent_p.V69V|SYNE1_uc003qpa.1_Silent_p.V69V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	69	Actin-binding.|CH 1.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCCCAGACAGGACCTCCAGAA	0.413000										HNSCC(10;0.0054)				78			6		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54802110	54802110	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54802110C>T	uc002qfd.3	-	5	1170	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Missense_Mutation_p.E296K	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	359	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.G360G(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCTGCCCCCTCCTTGGTCAAA	0.597000														124			41		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51863539	51863539	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51863539G>A	uc001rys.1	+	11	1669	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G	SLC4A8_uc010sni.2_Silent_p.G444G|SLC4A8_uc001rym.3_Silent_p.G444G|SLC4A8_uc001ryn.3_Silent_p.G444G|SLC4A8_uc001ryo.2_Silent_p.G444G|SLC4A8_uc010snj.2_Silent_p.G524G|SLC4A8_uc001ryq.4_Silent_p.G497G|SLC4A8_uc001ryr.3_Silent_p.G497G|SLC4A8_uc010snk.2_Silent_p.G444G	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	497					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCACCTTTGGGGGACTGCTTG	0.502000														104			15		0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003639	57003639	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57003639G>A	uc001njo.3	-	0	1289	c.840C>T	c.(838-840)ccC>ccT	p.P280P	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	280						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CAAAGTCACAGGGCCAGTGCA	0.562000														32			12		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49691586	49691586	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49691586G>A	uc003cxe.4	+	4	4711	c.4597G>A	c.(4597-4599)Ggt>Agt	p.G1533S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1533					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGTAGCCCAGGGTACACAAAC	0.612000														92			39		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324066	152324066	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152324066G>A	uc001ezw.4	-	2	6269	c.6196C>T	c.(6196-6198)Cat>Tat	p.H2066Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2066							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)			TGTCTCTCATGAACTGAGGAT	0.532000														481			196		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113943595	113943595	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113943595C>T	uc002tjc.3	+	4	1574	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	PSD4_uc002tjd.3_Missense_Mutation_p.S85L|PSD4_uc002tje.3_Missense_Mutation_p.S435L|PSD4_uc002tjf.3_Missense_Mutation_p.S85L	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	464					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCCTGCATCGTCCCAGGAG	0.617000														38			14		0	0	1	0	0
C1QTNF5	114902	broad.mit.edu	37	11	119216622	119216622	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:119216622G>A	uc010rzg.1	-	3	448	c.288C>T	c.(286-288)ccC>ccT	p.P96P	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	96					embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCCCAGATGGGGGTGCAGCCT	0.642000														48			22		0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789634	248789634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248789634C>T	uc001ier.1	-	0	796	c.796G>A	c.(796-798)Gag>Aag	p.E266K		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			TTGTCCTGCTCGGGGGTGTGG	0.502000														74			22		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38433628	38433628	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:38433628C>T	uc003tgu.3	-	17	1801	c.1585G>A	c.(1585-1587)Gag>Aag	p.E529K	AMPH_uc003tgv.3_Missense_Mutation_p.E487K|AMPH_uc003tgt.3_Missense_Mutation_p.E414K|AMPH_uc003tgw.1_Missense_Mutation_p.E552K|AMPH_uc010kxl.1_Non-coding_Transcript	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	529					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GCTTCGAGCTCCTCTGCTTCA	0.572000														130			28		0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70229978	70229978	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:70229978G>A	uc003tvw.4	+	7	2190	c.1455G>A	c.(1453-1455)ggG>ggA	p.G485G	AUTS2_uc003tvx.4_Silent_p.G485G|AUTS2_uc011keg.2_5'Flank	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	485										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACCCGGCCGGGAGCACTTACT	0.627000														45			10		0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141408672	141408673	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141408672_141408673CC>TT	uc003vwn.2	+	0	520_521	c.114_115CC>TT	c.(112-117)agccaa>agTTaa	p.Q39*	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	39					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGGCTTCGAGCCAAACCCCAGA	0.465000														198			58		0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201332429	201332429	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201332429G>A	uc001gwf.3	-	11	664	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_5'Flank|TNNT2_uc021phc.1_Nonsense_Mutation_p.Q189*|TNNT2_uc001gwg.3_Nonsense_Mutation_p.Q189*|TNNT2_uc001gwh.3_Nonsense_Mutation_p.Q180*|TNNT2_uc001gwi.3_Nonsense_Mutation_p.Q159*|TNNT2_uc009wzr.3_Nonsense_Mutation_p.Q130*|TNNT2_uc001gwj.1_Non-coding_Transcript|TNNT2_uc009wzs.1_Nonsense_Mutation_p.Q164*|TNNT2_uc001gwk.1_Nonsense_Mutation_p.Q130*|TNNT2_uc009wzt.1_Nonsense_Mutation_p.Q189*	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	199					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CCTACCTTCTGGATGTAACCC	0.552000														224			32		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582507	136582507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:136582507G>A	uc003qgx.1	-	11	2906	c.2653C>T	c.(2653-2655)Cct>Tct	p.P885S	BCLAF1_uc011edb.1_Missense_Mutation_p.P164S|BCLAF1_uc003qgy.1_Missense_Mutation_p.P834S|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.P883S|BCLAF1_uc003qgw.1_Missense_Mutation_p.P712S	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	885					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTCCATTTAGGACTGCTACCT	0.433000														293			58		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96239919	96239919	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:96239919G>A	uc001vmk.3	-	19	2944	c.2092C>T	c.(2092-2094)Cca>Tca	p.P698S	DZIP1_uc001vmj.3_Missense_Mutation_p.P174S|DZIP1_uc001vml.3_Missense_Mutation_p.P679S	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	698					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AGTGGGCCTGGGGATGCGTAT	0.572000														44			18		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121358776	121358776	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121358776G>A	uc001pxx.3	+	3	693	c.564G>A	c.(562-564)tgG>tgA	p.W188*		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	188					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGTACCTCTGGATCACGTTTG	0.517000														335			133		0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70721023	70721023	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:70721023C>T	uc003heo.3	-	2	380	c.267G>A	c.(265-267)atG>atA	p.M89I	SULT1E1_uc010ihv.1_Missense_Mutation_p.M89I	NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	89					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CGTTACCATTCATGAGGTTTT	0.318000														41			11		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43847746	43847747	+	Missense_Mutation	DNP	CC	TT	TT	rs150619594		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:43847746_43847747CC>TT	uc010skx.2	-	11	1723_1724	c.1723_1724GG>AA	c.(1723-1725)gga>AAa	p.G575K		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	575	TSP type-1 1.					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)		ACTTTCGATTCCGCCTCCACAT	0.416000														15			6		0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52827873	52827873	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52827873G>A	uc001saj.2	-	0	238	c.216C>T	c.(214-216)tcC>tcT	p.S72S		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	72	Gly-rich.|Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		ACCCATTGATGGAGACCCGCT	0.622000														67			34		0	0	1	0	0
TBX6	6911	broad.mit.edu	37	16	30097955	30097955	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30097955T>C	uc010veh.2	-	7	1035	c.975A>G	c.(973-975)gaA>gaG	p.E325E	BOLA2_uc010bzb.1_Intron	NM_004608	NP_004599	O95947	TBX6_HUMAN	Homo sapiens T-box 6 (TBX6), mRNA.	325					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						CTGGGGCCTGTTCTGGATCTG	0.662000														11			3		0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423267	47423267	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:47423267C>T	uc010ekv.3	+	0	1335	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	445	FF 3.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CTTCTCCTTTCATAACTCCCG	0.453000														74			7		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90872781	90872781	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:90872781T>A	uc003hst.3	+	6	3215	c.3144T>A	c.(3142-3144)caT>caA	p.H1048Q	MMRN1_uc010iku.3_Missense_Mutation_p.H351Q|MMRN1_uc011cds.2_Missense_Mutation_p.H790Q	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	1048	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTAGTCGGCATCCGTGCCAAA	0.433000														56			20		0	0	1	0	0
MAGEH1	28986	broad.mit.edu	37	X	55479462	55479463	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:55479462_55479463CC>TT	uc004dum.3	+	0	925_926	c.655_656CC>TT	c.(655-657)cct>TTt	p.P219F		NM_014061	NP_054780	Q9H213	MAGH1_HUMAN	Homo sapiens melanoma antigen family H, 1 (MAGEH1), mRNA.	219					apoptosis			p.P219S(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						TTATTCCGCCCCTTAAGTAGAT	0.495000														17			24		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23410955	23410955	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:23410955C>T	uc004dal.4	+	2	1328	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	440					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ATAGTATCTTCTGTAGAAAAG	0.468000														29			60		0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36301496	36301496	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:36301496C>T	uc011cow.2	-	0	516	c.23G>A	c.(22-24)gGc>gAc	p.G8D	RANBP3L_uc003jkh.3_Missense_Mutation_p.G8D	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	8					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			GTGGCTGCTGCCTTTTCTTGG	0.542000														111			24		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142612675	142612675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142612675C>T	uc003wby.1	-	8	1450	c.1186G>A	c.(1186-1188)Gct>Act	p.A396T		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	396					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ATGATCACAGCCCCAACGATG	0.537000														41			9		0	0	1	0	0
SRRM3	222183	broad.mit.edu	37	7	75894696	75894696	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:75894696C>T	uc010ldi.2	+	9	949	c.740C>T	c.(739-741)tCc>tTc	p.S247F	SRRM3_uc011kgi.2_5'UTR	NM_001110199	NP_001103669			Homo sapiens serine/arginine repetitive matrix 3 (SRRM3), mRNA.									p.S247Y(2)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						CACACAGAGTCCCCAGGCCGG	0.642000														45			22		0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6925289	6925289	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6925289C>T	uc001qqv.2	+	5	933	c.675C>T	c.(673-675)ctC>ctT	p.L225L	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_3'UTR|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_Silent_p.L46L|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	225	Ig-like C2-type 2.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CCTTCCCACTCGCCTTTACAG	0.562000														71			39		0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182517	100182517	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:100182517C>T	uc001ygo.3	+	8	888	c.888C>T	c.(886-888)ttC>ttT	p.F296F	CYP46A1_uc001ygp.3_Silent_p.F143F	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	296					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TGGACAACTTCGTCACCTTCT	0.542000														63			32		0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6925421	6925421	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6925421C>T	uc001qqv.2	+	5	1065	c.807C>T	c.(805-807)gaC>gaT	p.D269D	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_3'UTR|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_Silent_p.D90D|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	269	Ig-like C2-type 2.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	p.D269E(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				TTACCCAGGACCCTAAGCTCC	0.587000														95			25		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43846452	43846452	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:43846452G>A	uc010skx.2	-	12	1807	c.1807C>T	c.(1807-1809)Cga>Tga	p.R603*		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	603	TSP type-1 1.					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)		TTACATGATCGAAATTTCATC	0.398000														17			9		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11572916	11572916	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11572916C>T	uc002gne.3	+	16	3226	c.3158C>T	c.(3157-3159)cCc>cTc	p.P1053L	DNAH9_uc010coo.3_Missense_Mutation_p.P347L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1053	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGAACCCTCCCCTCCTTTCT	0.507000														77			37		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46976894	46976894	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46976894G>A	uc003oyt.3	-	10	2476	c.2277C>T	c.(2275-2277)ttC>ttT	p.F759F	GPR110_uc011dwl.2_Silent_p.F447F	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	759					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GCACCACAACGAAGTTCACAG	0.527000														55			30		0	0	1	0	0
SHOX	6473	broad.mit.edu	37	X	595460	595460	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:595460C>T	uc004cph.1	+	2	1076	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L	SHOX_uc004cpi.3_Silent_p.L129L	NM_000451	NP_000442	O15266	SHOX_HUMAN	Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.	129					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCTGGAGCAGCTGAACGAGCT	0.637000														23			16		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57945727	57945727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:57945727G>A	uc002emt.2	-	24	2487	c.2422C>T	c.(2422-2424)Ctt>Ttt	p.L808F	CNGB1_uc010cdh.2_Missense_Mutation_p.L802F	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	808					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAGTAATAAAGACAGGAATTC	0.582000														43			15		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12409257	12409257	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12409257C>T	uc001atv.3	+	45	9398	c.9257C>T	c.(9256-9258)tCg>tTg	p.S3086L	VPS13D_uc001atw.3_Missense_Mutation_p.S3061L|VPS13D_uc001atx.3_Missense_Mutation_p.S2273L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3085					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCAGGGGATTCGTTTGCTGTG	0.502000														160			43		0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30398934	30398934	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:30398934G>A	uc003agv.4	+	8	951	c.623G>A	c.(622-624)aGt>aAt	p.S208N	MTMR3_uc003agu.4_Missense_Mutation_p.S208N|MTMR3_uc003agw.4_Missense_Mutation_p.S208N	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	208	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GAACTGGAAAGTGTATCAAGT	0.507000														77			37		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141721479	141721479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141721479G>A	uc003vwy.3	+	5	706	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	218	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTACCAAGTTGAAATCTCCAG	0.438000														97			33		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137707461	137707461	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:137707461G>A	uc004cfe.3	+	50	4436	c.4054G>A	c.(4054-4056)Gag>Aag	p.E1352K		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1352	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCCCCGGAGAGCCTGGCCC	0.622000														23			5		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088044	86088044	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:86088044G>A	uc021rxf.1	+	0	186	c.186G>A	c.(184-186)ccG>ccA	p.P62P	FLRT2_uc001xvr.3_Silent_p.P62P|FLRT2_uc010atd.3_Silent_p.P62P	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	62	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.P62Q(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTGGGATCCCGGAGGGCGTAA	0.517000														122			23		0	0	1	0	0
SBK2	646643	broad.mit.edu	37	19	56041213	56041213	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56041213G>A	uc010ygc.2	-	3	949	c.934C>T	c.(934-936)Ccc>Tcc	p.P312S		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	312	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.H311N(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTCCTTCGGGGGTGAGGGTCC	0.751000														23			14		0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207564903	207564903	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:207564903G>A	uc002vbr.1	-	5	638	c.521C>T	c.(520-522)cCt>cTt	p.P174L		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	174						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		ACTTTCCACAGGGCACAGAGC	0.527000														79			35		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55012584	55012584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:55012584C>T	uc002xxp.2	+	2	626	c.401C>T	c.(400-402)cCc>cTc	p.P134L	CASS4_uc002xxq.4_Missense_Mutation_p.P134L|CASS4_uc010zze.1_Intron|CASS4_uc002xxr.2_Missense_Mutation_p.P134L|CASS4_uc010gio.2_Missense_Mutation_p.P134L	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	134					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.P134S(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TATGAATTCCCCGACCCTCCC	0.572000														115			53		0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71166148	71166148	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:71166148C>T	uc002jje.3	+	1	1050	c.690C>T	c.(688-690)ttC>ttT	p.F230F	SSTR2_uc021ucm.1_Silent_p.F230F	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	230					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			GCTACCTGTTCATTATCATCA	0.512000														139			38		0	0	1	0	0
C9orf173	441476	broad.mit.edu	37	9	140146307	140146307	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140146307G>A	uc004cmk.1	+	1	237	c.225G>A	c.(223-225)caG>caA	p.Q75Q	LOC100129722_uc022bqg.1_Intron|C9orf173_uc004cmj.1_Silent_p.Q76Q|C9orf173_uc011meu.1_Non-coding_Transcript|C9orf173_uc010ncd.1_Non-coding_Transcript|C9orf173_uc004cml.1_Silent_p.Q75Q|C9orf173_uc011mev.1_Silent_p.Q75Q			Q8N7X2	CI173_HUMAN	Homo sapiens chromosome 9 open reading frame 173 (C9orf173), mRNA.	76										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						GCACCCCCCAGGAGTCCCTGC	0.647000														8			4		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739037	38739037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38739037C>T	uc003ciq.3	-	26	5674	c.5674G>A	c.(5674-5676)Gaa>Aaa	p.E1892K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1892					sensory perception	voltage-gated sodium channel complex		p.D1891N(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACAAAACCTTCATCTGGGAGT	0.502000														94			53		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56490832	56490832	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56490832G>A	uc002qmh.3	+	8	3020	c.2949G>A	c.(2947-2949)ctG>ctA	p.L983L	NLRP8_uc010etg.3_Silent_p.L964L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	983						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCAACATCTGAGACATCTGG	0.493000														112			50		0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34029359	34029359	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:34029359G>A	uc001wru.3	+	4	565	c.501G>A	c.(499-501)caG>caA	p.Q167Q	NPAS3_uc001wrs.3_Silent_p.Q154Q|NPAS3_uc001wrv.3_Silent_p.Q137Q|NPAS3_uc001wrt.3_Silent_p.Q135Q|NPAS3_uc001wrw.3_Silent_p.Q65Q	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	167	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CACTAAATCAGGAAGGAAAAT	0.338000														56			23		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37433933	37433933	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:37433933C>T	uc021ppc.1	+	7	1335	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	ANKRD30A_uc001iza.1_Silent_p.F412F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	468						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATCAGAGGTTCCCATCAGAAT	0.254000														89			45		0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33373143	33373143	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33373143C>T	uc003oef.4	+	6	1721	c.1271C>T	c.(1270-1272)cCt>cTt	p.P424L	KIFC1_uc011drf.2_Missense_Mutation_p.P416L	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	Homo sapiens kinesin family member C1 (KIFC1), mRNA.	424	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GAGGGTGGGCCTGGGGGAGAC	0.602000														64			21		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3342631	3342631	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3342631G>A	uc001akf.3	+	13	3208	c.3126G>A	c.(3124-3126)ggG>ggA	p.G1042G	PRDM16_uc001ake.3_Silent_p.G1042G|PRDM16_uc009vlh.3_Silent_p.G742G|PRDM16_uc001akc.3_Silent_p.G1041G	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	1042	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGCACCCCGGGGTCCTCACGA	0.637000			T	EVI1	"""MDS, AML"""									29			17		0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737532	248737532	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248737532G>A	uc001iep.1	-	0	527	c.527C>T	c.(526-528)tCt>tTt	p.S176F		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	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;0.0265)			GATTTTCCTAGACTGGCAAAA	0.527000														82			43		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38939413	38939413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38939413G>A	uc021yzh.1	+	82	12606	c.12497G>A	c.(12496-12498)cGa>cAa	p.R4166Q	DNAH8_uc003ooe.2_Missense_Mutation_p.R3949Q|DNAH8_uc003oog.1_Missense_Mutation_p.R398Q	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTACATGCTCGAAAGCTGATT	0.413000														94			22		0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1903152	1903152	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:1903152C>T	uc002wfq.3	+	4	1308	c.948C>T	c.(946-948)ctC>ctT	p.L316L	SIRPA_uc010zps.2_Silent_p.L296L|SIRPA_uc002wfr.3_Silent_p.L316L|SIRPA_uc002wfs.3_Silent_p.L316L|SIRPA_uc002wft.3_Silent_p.L316L	NM_001040022	NP_542970	P78324	SHPS1_HUMAN	Homo sapiens signal-regulatory protein alpha (SIRPA), transcript variant 1, mRNA.	316	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		TGAGCTGGCTCCTGGTGAATG	0.547000														73			45		0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2718589	2718589	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:2718589G>A	uc003zho.2	+	0	1064	c.850G>A	c.(850-852)Gag>Aag	p.E284K		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	284						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CACCGTGGAGGAGATGCAGCA	0.672000														16			5		0	0	1	0	0
GGTLC2	91227	broad.mit.edu	37	22	22989517	22989517	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22989517G>A	uc010gts.2	+	2	403	c.369G>A	c.(367-369)atG>atA	p.M123I	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gtt.2_Intron	NM_199127	NP_954578	Q14390	GGTL2_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 2 (GGTLC2), transcript variant 1, mRNA.	119					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		AGGTCCGGATGGTGGTGGGAG	0.642000														90			30		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152553713	152553713	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152553713C>T	uc021vrb.1	-	13	1448	c.1419G>A	c.(1417-1419)caG>caA	p.Q473Q	NEB_uc002txu.3_Silent_p.Q473Q|NEB_uc021vrc.1_Silent_p.Q473Q|NEB_uc010fnx.3_Silent_p.Q473Q|NEB_uc021vrd.1_Silent_p.Q473Q|NEB_uc010fny.2_Silent_p.Q27Q	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	473					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGTTATGGTCTGAGGGAAGA	0.383000														61			13		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57967220	57967220	+	Missense_Mutation	SNP	G	A	A	rs146505887	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:57967220G>A	uc002aei.3	+	11	1389	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	GCOM1_uc002aej.3_Missense_Mutation_p.E392K|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.E420K|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Intron|GCOM1_uc002aeq.3_Intron|GCOM1_uc002aen.3_Intron|GCOM1_uc010bfy.3_Intron|GCOM1_uc002aeo.3_Missense_Mutation_p.E420K|GCOM1_uc002aer.1_Non-coding_Transcript	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	420					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GGCCAAGACTGAAGTGGAAAC	0.378000														67			7		0	0	1	0	0
POMC	5443	broad.mit.edu	37	2	25384054	25384054	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:25384054C>T	uc002rfy.1	-	3	963	c.700G>A	c.(700-702)Gac>Aac	p.D234N	POMC_uc002rfz.1_Missense_Mutation_p.D234N|POMC_uc002rga.1_Missense_Mutation_p.D234N	NM_001035256	NP_001030333	P01189	COLI_HUMAN	Homo sapiens proopiomelanocortin (POMC), transcript variant 1, mRNA.	234					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TAGCGCTTGTCCTTGGGCGGG	0.637000														42			4		0	0	1	0	0
EPHX4	253152	broad.mit.edu	37	1	92511195	92511195	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:92511195C>T	uc001don.2	+	3	686	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	194						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TTATTAACTTCCCTCATCCAA	0.388000														99			35		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38942416	38942416	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38942416C>T	uc002oit.3	+	11	1265	c.1135C>T	c.(1135-1137)Cag>Tag	p.Q379*	RYR1_uc002oiu.3_Nonsense_Mutation_p.Q379*	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	379	MIR 5.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CATGCTGCACCAGGAGGGCCA	0.632000														65			18		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48201473	48201473	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:48201473G>A	uc002eff.1	-	27	4340	c.3990C>T	c.(3988-3990)ctC>ctT	p.L1330L	ABCC11_uc002efg.1_Silent_p.L1330L|ABCC11_uc002efh.1_Silent_p.L1292L|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1330	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GGGCAATGACGAGCACGGTGC	0.567000														83			35		0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149511697	149511697	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:149511697C>T	uc010zbt.2	+	3	688	c.661C>T	c.(661-663)Cga>Tga	p.R221*		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	221					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AATGCAAACTCGAAAGGTAAT	0.338000														13			6		0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813667	100813667	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:100813667C>T	uc010svi.2	+	11	1813	c.1500C>T	c.(1498-1500)gtC>gtT	p.V500V	SLC17A8_uc009ztx.3_Silent_p.V450V	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	500					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TCTATGGGGTCTTTGCTTCTG	0.463000														69			27		0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437994	125437994	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125437994G>A	uc011lzb.2	+	0	586	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						CTTTGTCAATGAAATTGTGGC	0.433000														197			56		0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158395161	158395161	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:158395161G>A	uc002tzk.4	-	7	1523	c.1280C>T	c.(1279-1281)tCg>tTg	p.S427L	ACVR1C_uc002tzl.4_Missense_Mutation_p.S347L|ACVR1C_uc010fof.3_Missense_Mutation_p.S270L|ACVR1C_uc010foe.3_Missense_Mutation_p.S377L	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	427	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity	p.S427*(2)|p.S427S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TTCCTCTATCGAGGGATCTGA	0.363000														99			23		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62757842	62757842	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:62757842C>T	uc003peg.2	-	2	524	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	93	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCTGTTTCTTCCTGTAGCCTC	0.373000														143			42		0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	80993272	80993272	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:80993272G>A	uc001xux.2	-	21	3184	c.3013C>T	c.(3013-3015)Cgc>Tgc	p.R1005C	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	1005						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GAATTTCTGCGAACCCTGTAT	0.348000														76			18		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409973	105409973	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105409973C>T	uc010axc.1	-	6	11935	c.11815G>A	c.(11815-11817)Gag>Aag	p.E3939K	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.E3839K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3939						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTGGGGCCTCGACGTCCACC	0.597000														288			90		0	0	1	0	0
PHOX2A	401	broad.mit.edu	37	11	71950911	71950911	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:71950911C>T	uc001osh.4	-	2	909	c.737G>A	c.(736-738)gGa>gAa	p.G246E		NM_005169	NP_005160	O14813	PHX2A_HUMAN	Homo sapiens paired-like homeobox 2a (PHOX2A), mRNA.	246	Poly-Gly.				noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						TTCGGCCGCTCCCGCGCCAGG	0.771000														2			3		0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49433061	49433061	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:49433061G>A	uc002efr.3	+	4	713	c.670G>A	c.(670-672)Gag>Aag	p.E224K		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	224										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GTTATCCAAGGAGAACATTCG	0.438000														87			12		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32792919	32792919	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:32792919C>T	uc001utx.3	+	35	5212	c.4716C>T	c.(4714-4716)ctC>ctT	p.L1572L	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACACTCGCCTCGAGTCAAGAT	0.413000														47			11		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507941	155507941	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155507941G>A	uc003iod.1	-	4	698	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	FGA_uc003ioe.1_Missense_Mutation_p.P214S|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	214					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.P214P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCTCTAGAGGGAAGTAAGTCT	0.453000														85			40		0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678058	87678058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:87678058C>T	uc002fkd.3	+	1	831	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	193					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GGCCGTGTCCCGCGGGGGCTT	0.687000														62			32		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30670603	30670603	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30670603G>A	uc003nrg.4	-	12	6357	c.5917C>T	c.(5917-5919)Cct>Tct	p.P1973S	MDC1_uc003nrf.4_Missense_Mutation_p.P604S	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1973	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCTTGCTCAGGGTCGGTCACC	0.547000								Other conserved DNA damage response genes						123			39		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093066	30093066	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:30093066C>T	uc010dmc.3	+	0		c.1441C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		TGGACCACCTCCAGGAGCTCC	0.582000														11			5		0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75442214	75442214	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:75442214C>T	uc010rru.2	+	5	888	c.888C>T	c.(886-888)ccC>ccT	p.P296P	MOGAT2_uc010rrv.2_Silent_p.P214P	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	296					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	p.P296L(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CGCTGCATCCCTCGGAGGAGG	0.577000														60			24		0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1235690	1235690	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1235690C>T	uc003jby.2	+	3	657	c.534C>T	c.(532-534)tcC>tcT	p.S178S		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	178					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACAGTGGCTCCATCCAGTGGT	0.572000														95			40		0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100130033	100130033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:100130033G>A	uc003huo.2	-	5	714	c.620C>T	c.(619-621)tCt>tTt	p.S207F	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_5'UTR|ADH6_uc003hup.4_Missense_Mutation_p.S207F|ADH6_uc010ile.3_Missense_Mutation_p.S207F	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	207					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CATGACAACAGACAAGCCGAC	0.473000														274			39		0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67576471	67576471	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:67576471C>T	uc003jva.3	+	5	1330	c.750C>T	c.(748-750)ctC>ctT	p.L250L		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	250	Rho-GAP.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TCTTCAAGCTCTCTCAAACCT	0.388000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)				151			55		0	0	1	0	0
PRR23C	389152	broad.mit.edu	37	3	138763135	138763135	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:138763135C>T	uc011bmt.1	-	0	600	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	Homo sapiens proline rich 23C (PRR23C), mRNA.	110										breast(2)|lung(7)|skin(2)	11						CCTGAGCATTCGTCGACGGAG	0.647000														7			4		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255045	15255045	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15255045C>T	uc001iob.3	-	7	2549	c.2542G>A	c.(2542-2544)Gcc>Acc	p.A848T		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	848						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGGGGGCTGGCTGCTGGCTCC	0.607000														130			69		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20649578	20649578	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:20649578G>A	uc001mqd.3	+	8	1721	c.1448G>A	c.(1447-1449)gGa>gAa	p.G483E	SLC6A5_uc009yic.3_Missense_Mutation_p.G248E	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	483					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GCTGCATGGGGAGGCCTGATC	0.473000														93			19		0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307027	39307027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:39307027G>A	uc021wwc.1	-	1	1110	c.1070C>T	c.(1069-1071)tCc>tTc	p.S357F	CX3CR1_uc021wwa.1_Missense_Mutation_p.S325F|CX3CR1_uc021wwb.1_Missense_Mutation_p.S325F|CX3CR1_uc003cjl.3_Missense_Mutation_p.S325F|CX3CR1_uc021wwd.1_Missense_Mutation_p.S325F	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	325					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TTCAGATGAGGAGAAATCAAC	0.478000														110			59		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44845619	44845619	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44845619C>T	uc002xrm.2	-	3	1083	c.684G>A	c.(682-684)acG>acA	p.T228T	CDH22_uc010ghk.1_Silent_p.T228T|CDH22_uc002xrn.2_5'UTR	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	228	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R227Q(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CAGGCACAGCCGTCCGGATTA	0.652000														76			23		0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45817352	45817352	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:45817352C>T	uc011bai.2	-	3	607	c.483G>A	c.(481-483)caG>caA	p.Q161Q	SLC6A20_uc011baj.2_Silent_p.Q161Q	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	161					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCCCGTTCTCCTGGAGGGACG	0.607000														143			40		0	0	1	0	0
NSUN4	387338	broad.mit.edu	37	1	46810805	46810805	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:46810805C>T	uc001cpr.1	+	1	535	c.426C>T	c.(424-426)ttC>ttT	p.F142F	NSUN4_uc010omc.1_Silent_p.F93F|NSUN4_uc009vyf.1_Missense_Mutation_p.S43F|NSUN4_uc009vyg.1_Silent_p.F93F|NSUN4_uc001cpt.1_Non-coding_Transcript|NSUN4_uc001cps.1_Intron	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	Homo sapiens NOP2/Sun domain family, member 4 (NSUN4), transcript variant 1, mRNA.	142							methyltransferase activity	p.R141H(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					TCAGTCGCTTCCCTCCTGCCA	0.562000														48			23		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183652084	183652084	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:183652084C>T	uc003ivd.1	+	14	2834	c.2759C>T	c.(2758-2760)tCc>tTc	p.S920F	ODZ3_uc003ive.1_Missense_Mutation_p.S326F	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	920					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TTTGAACGATCCCCATTCCTC	0.418000														23			21		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156526	22156526	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22156526G>A	uc021urr.1	-	3	1459	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.W436R(1)		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)				AAGGTTTGAGGACCAGTTGAA	0.373000														80			34		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584010	179584010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179584010G>A	uc021vsy.1	-	79	20600	c.20375C>T	c.(20374-20376)tCg>tTg	p.S6792L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3453L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7719	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I6792V(1)		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)			GACGTTTTCCGAAAAGCTGGA	0.507000														139			28		0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68597784	68597784	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:68597784C>T	uc010cff.3	+	4	1386	c.1094C>T	c.(1093-1095)cCc>cTc	p.P365L	ZFP90_uc002ewb.3_Missense_Mutation_p.P171S|ZFP90_uc002ewc.3_Missense_Mutation_p.P171S|ZFP90_uc002ewd.3_Missense_Mutation_p.P365L|ZFP90_uc002ewe.3_Missense_Mutation_p.P365L	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	365					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GGAGAGAAGCCCTTCCAGTGT	0.473000														46			13		0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113924290	113924290	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:113924290G>A	uc009xxy.2	-	12	1510	c.1300C>T	c.(1300-1302)Cct>Tct	p.P434S	GPAM_uc001kzp.3_Missense_Mutation_p.P434S|GPAM_uc001kzq.1_Missense_Mutation_p.P434S	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	434					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TACCTTGAAGGAAGTATAGCT	0.358000														46			14		0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49578756	49578756	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:49578756C>T	uc003ozk.4	-	6	1110	c.1048G>A	c.(1048-1050)Gca>Aca	p.A350T	RHAG_uc010jzl.3_Missense_Mutation_p.A350T|RHAG_uc010jzm.3_Intron	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	350					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GCGCCCATTGCTACTGCCACA	0.478000														58			34		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85775681	85775681	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:85775681C>T	uc003dql.3	+	0	50	c.50C>T	c.(49-51)tCa>tTa	p.S17L	CADM2_uc003dqj.3_Intron|CADM2_uc003dqk.3_Missense_Mutation_p.S24L|CADM2_uc003dqm.2_Intron|CADM2_uc021xay.1_5'UTR|CADM2_uc021xaz.1_Intron|CADM2_uc021xba.1_Intron	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	0					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GCGGCTGCTTCAAAGAATAAA	0.353000														177			20		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16859997	16859997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16859997G>A	uc002neu.4	+	5	966	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	NWD1_uc002net.4_Missense_Mutation_p.E47K|NWD1_uc002nev.4_5'UTR|NWD1_uc021uqg.1_Missense_Mutation_p.E47K	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	182							ATP binding	p.E182K(1)		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						AGAGGACCGGGAACAGGGAGC	0.572000														48			19		0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43157211	43157211	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:43157211G>A	uc003xpz.1	+	4	834	c.791G>A	c.(790-792)gGa>gAa	p.G264E	POTEA_uc003xqa.1_Intron	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	264										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATGTATTTGGACAAACTGCT	0.308000														75			6		0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47272290	47272290	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:47272290C>T	uc004dhr.1	+	3	887	c.818C>T	c.(817-819)cCc>cTc	p.P273L		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	273					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GGGGAGAAACCCTATGAATGT	0.448000														11			20		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34003641	34003641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:34003641G>A	uc003oir.4	-	7	2609	c.2246C>T	c.(2245-2247)tCg>tTg	p.S749L	GRM4_uc011dsn.2_Missense_Mutation_p.S702L|GRM4_uc010jvh.3_Missense_Mutation_p.S749L|GRM4_uc010jvi.3_Missense_Mutation_p.S441L|GRM4_uc003oio.3_Missense_Mutation_p.S441L|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.S609L|GRM4_uc003oiq.3_Missense_Mutation_p.S616L|GRM4_uc011dsm.2_Missense_Mutation_p.S580L	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	749					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CGACAGGTCCGAGATGTCACA	0.617000														66			12		0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119045960	119045960	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:119045960C>T	uc001pvu.3	+	5	1863	c.1648C>T	c.(1648-1650)Cct>Tct	p.P550S	NLRX1_uc010rzc.1_Missense_Mutation_p.P372S|NLRX1_uc001pvv.3_Missense_Mutation_p.P550S|NLRX1_uc001pvw.3_Missense_Mutation_p.P550S|NLRX1_uc001pvx.3_Missense_Mutation_p.P550S	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	550	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)		GCGGGCTCTGCCTCTGCTCTT	0.627000														66			35		0	0	1	0	0
FGF19	9965	broad.mit.edu	37	11	69514115	69514115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:69514115G>A	uc001opf.3	-	2	1028	c.566C>T	c.(565-567)tCt>tTt	p.S189F		NM_005117	NP_005108	O95750	FGF19_HUMAN	Homo sapiens fibroblast growth factor 19 (FGF19), mRNA.	189					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of ERK1 and ERK2 cascade|positive regulation of JNK cascade|positive regulation of cell proliferation|positive regulation of glucose import	extracellular region	fibroblast growth factor receptor binding|growth factor activity	p.F188L(1)		large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CAGGGGCGAAGAGAACATGTC	0.577000														95			34		0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020498	56020498	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56020498C>T	uc010rjd.2	+	0	823	c.823C>T	c.(823-825)Cta>Tta	p.L275L		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H274Q(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGGCTCTCACCTAACTGGAGT	0.408000														154			59		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457844	5457844	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:5457844C>T	uc003jdm.4	+	11	1313	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	364	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTACCGTCTTCATTTGCACCT	0.463000														250			80		0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28618371	28618371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:28618371C>T	uc002dqn.3	-	7	1265	c.673G>A	c.(673-675)Gat>Aat	p.D225N	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.D134N|SULT1A1_uc002dqi.3_Missense_Mutation_p.D134N|SULT1A1_uc002dqk.3_Missense_Mutation_p.D134N|SULT1A1_uc002dql.3_Missense_Mutation_p.D134N|SULT1A1_uc002dqm.3_Missense_Mutation_p.D56N|SULT1A1_uc002dqp.3_Missense_Mutation_p.D134N	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	134					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						ACTGCCACATCCTTTGCGTTG	0.572000														90			20		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800940	185800940	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:185800940G>A	uc002uph.3	+	3	1411	c.817G>A	c.(817-819)Gag>Aag	p.E273K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	273						intracellular	zinc ion binding	p.E272G(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAGTTCTGAGGAGAAAACTAA	0.393000														103			26		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16822601	16822601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:16822601C>T	uc010rcu.1	-	16	2344	c.2329G>A	c.(2329-2331)Gaa>Aaa	p.E777K	PLEKHA7_uc001mmo.3_Missense_Mutation_p.E777K|PLEKHA7_uc010rcv.2_Missense_Mutation_p.E351K|PLEKHA7_uc001mmn.3_Missense_Mutation_p.E485K	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	777					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TTCAGGTATTCGTTCCAAGCA	0.498000														174			48		0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71150068	71150068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:71150068C>T	uc001oqk.3	-	6	938	c.688G>A	c.(688-690)Ggg>Agg	p.G230R	DHCR7_uc001oql.3_Missense_Mutation_p.G230R	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	230					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	AACCACTTCCCGATCCGAGGG	0.473000									Smith-Lemli-Opitz syndrome					50			21		0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269468	30269468	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:30269468C>T	uc022buh.1	+	0	858	c.858C>T	c.(856-858)ctC>ctT	p.L286L	MAGEB1_uc004dcc.3_Silent_p.L286L|MAGEB1_uc004dcd.3_Silent_p.L286L|MAGEB1_uc004dce.3_Silent_p.L286L	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	286	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TGAAAGTCCTCGAGTTTTTGG	0.507000														30			46		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119750052	119750052	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:119750052G>A	uc002tln.1	+	15	1384	c.1252_splice	c.e15+1	p.G418_splice	MARCO_uc010yyf.1_Splice_Site_p.G340_splice	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	418	Collagen-like.				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						AGGTGAAAGAGGTAATCACTA	0.413000														45			10		0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44148446	44148446	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:44148446C>T	uc001mya.3	+	5	1175	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V	EXT2_uc010rfo.2_Silent_p.V368V|EXT2_uc009ykt.3_Silent_p.V340V|EXT2_uc001mxz.3_Silent_p.V340V	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	340					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTGGCTGTGTCCCGGTTGTCA	0.498000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses					110			37		0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6262747	6262747	+	Missense_Mutation	SNP	C	T	T	rs141400949	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6262747C>T	uc001mco.3	+	4	1119	c.1004C>T	c.(1003-1005)gCt>gTt	p.A335V	CNGA4_uc010raa.2_Missense_Mutation_p.A104V|CNGA4_uc001mcn.3_Missense_Mutation_p.A295V	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	335					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGAAGTGGCTGTGTCTGTG	0.577000														86			37		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195490982	195490982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:195490982G>A	uc021xjp.1	-	10	14134	c.13978C>T	c.(13978-13980)Ctc>Ttc	p.L4660F	MUC4_uc003fuz.3_Missense_Mutation_p.L258F|MUC4_uc003fva.3_Missense_Mutation_p.L140F|MUC4_uc003fvb.3_Missense_Mutation_p.L176F|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.L176F|MUC4_uc010hzr.3_Intron|MUC4_uc021xjm.1_Missense_Mutation_p.L169F|MUC4_uc021xjn.1_Missense_Mutation_p.L349F|MUC4_uc021xjo.1_Missense_Mutation_p.L140F|MUC4_uc021xjg.1_Missense_Mutation_p.L140F|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.L224F|MUC4_uc021xjj.1_Missense_Mutation_p.L224F|MUC4_uc021xjk.1_Missense_Mutation_p.L401F|MUC4_uc021xjl.1_Missense_Mutation_p.L140F|MUC4_uc003fvo.3_Missense_Mutation_p.L424F|MUC4_uc003fvp.3_Missense_Mutation_p.L373F	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1417					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGGCACAGAGGTAGGGCTTG	0.657000														6			4		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000416	16000416	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16000416G>A	uc002nbs.1	-	6	785	c.735C>T	c.(733-735)ttC>ttT	p.F245F	CYP4F2_uc010xot.1_Silent_p.F96F|CYP4F2_uc010xou.1_Silent_p.F96F	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	245					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATAATACAGGAAGTCAATAT	0.552000														150			70		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476041	120476041	+	Silent	SNP	C	T	T	rs140976297		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:120476041C>T	uc004bjz.3	+	2	1926	c.1635C>T	c.(1633-1635)tcC>tcT	p.S545S	TLR4_uc004bkb.3_Silent_p.S345S|TLR4_uc004bka.3_Silent_p.S505S	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	545					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GTCTGAACTCCCTCCAGGTTC	0.378000														55			11		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19701585	19701585	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:19701585C>T	uc002ykw.3	-	14	1712	c.1681G>A	c.(1681-1683)Gga>Aga	p.G561R		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	561	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATATTCTTTCCTTTTTGTGCA	0.308000														39			13		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65788286	65788286	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65788286G>A	uc001ogt.3	-	5	2061	c.1923C>T	c.(1921-1923)gcC>gcT	p.A641A		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	641					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.R640H(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCCTACCCTGGGCACGGCTGT	0.637000														38			11		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92102891	92102891	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:92102891G>A	uc001xzs.1	-	16	1760	c.1620C>T	c.(1618-1620)gcC>gcT	p.A540A	CATSPERB_uc010aub.1_Silent_p.A62A	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	540					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.A540G(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TGTGCTGTGGGGCAAGCGCAG	0.378000														55			18		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3905604	3905604	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3905604G>A	uc010xhz.2	+	4	810	c.327G>A	c.(325-327)gaG>gaA	p.E109E	ATCAY_uc002lyy.4_Silent_p.E103E			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	103					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)		CCCCCGATGAGACCGACTCGC	0.582000														70			28		0	0	1	0	0
OTOS	150677	broad.mit.edu	37	2	241078664	241078664	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241078664C>T	uc002vyv.3	-	3	348	c.193G>A	c.(193-195)Gac>Aac	p.D65N	MYEOV2_uc002vyu.1_5'Flank|MYEOV2_uc010zof.1_5'Flank	NM_148961	NP_683764	Q8NHW6	OTOSP_HUMAN	Homo sapiens otospiralin (OTOS), mRNA.	65						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CGGGCCATGTCCTCGATCTGG	0.637000														77			29		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66075705	66075705	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:66075705C>T	uc001dci.3	+	12	2217	c.1828C>T	c.(1828-1830)Cag>Tag	p.Q610*	LEPR_uc001dcg.3_Nonsense_Mutation_p.Q610*|LEPR_uc001dch.3_Nonsense_Mutation_p.Q610*|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Nonsense_Mutation_p.Q610*|LEPR_uc001dcj.3_Nonsense_Mutation_p.Q610*|LEPR_uc001dck.3_Nonsense_Mutation_p.Q610*	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	610	Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTATGCTGTTCAGGTGCGCTG	0.413000														174			72		0	0	1	0	0
AAK1	22848	broad.mit.edu	37	2	69752175	69752175	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:69752175G>A	uc002sfp.2	-	9	1550	c.1045C>T	c.(1045-1047)Cca>Tca	p.P349S	AAK1_uc010fdk.2_Missense_Mutation_p.P349S|AAK1_uc010yqm.1_Missense_Mutation_p.P349S	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	Homo sapiens AP2 associated kinase 1 (AAK1), mRNA.	349						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CTGGCCTTTGGCTGGGTCTTT	0.453000														82			18		0	0	1	0	0
EVX1	2128	broad.mit.edu	37	7	27284711	27284711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:27284711G>A	uc003szd.1	+	1	958	c.472G>A	c.(472-474)Gag>Aag	p.E158K	EVX1_uc011jzn.1_5'UTR|EVX1_uc010kuy.1_Silent_p.A139A	NM_001989	NP_001980	P49640	EVX1_HUMAN	Homo sapiens even-skipped homeobox 1 (EVX1), mRNA.	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CGGAGGGAGCGAGACCCCCAA	0.667000														54			31		0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100999520	100999520	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:100999520C>T	uc001pgh.2	-	0	1025	c.282G>A	c.(280-282)agG>agA	p.R94R	PGR_uc001pgi.2_Silent_p.R94R|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	94	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CTCCAGCACCCCTTGTAGCTT	0.632000														46			14		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478515	21478515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:21478515G>A	uc003cce.3	-	4	1028	c.620C>T	c.(619-621)tCg>tTg	p.S207L	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	207						nucleus	nucleic acid binding|zinc ion binding	p.S207L(2)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTGCATAGCGAACAGTAAAG	0.478000														125			17		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104025408	104025408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:104025408G>A	uc001tjw.3	+	5	706	c.520G>A	c.(520-522)Gga>Aga	p.G174R		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	174	EGF-like 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGCAACAGTGGACTAGATGG	0.488000														153			39		0	0	1	0	0
IPMK	253430	broad.mit.edu	37	10	59956189	59956189	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:59956189G>A	uc001jkb.3	-	5	1222	c.899C>T	c.(898-900)tCc>tTc	p.S300F		NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN	Homo sapiens inositol polyphosphate multikinase (IPMK), mRNA.	300						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						ATTAGCTGTGGAACTTAACAC	0.368000														123			27		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49433990	49433990	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49433990G>A	uc001rta.4	-	30	7563	c.7563C>T	c.(7561-7563)tcC>tcT	p.S2521S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2521	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCGTCCCAGGGGACCGGACAA	0.672000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				41			5		0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766709	171766709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:171766709G>A	uc003mbr.3	-	12	1571	c.1400C>T	c.(1399-1401)tCc>tTc	p.S467F		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	467					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGGGGCCGGGAGGGGCCCGT	0.642000														39			15		0	0	1	0	0
LIN54	132660	broad.mit.edu	37	4	83905984	83905984	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:83905984G>A	uc003hnx.3	-	1	392	c.14C>T	c.(13-15)cCa>cTa	p.P5L	LIN54_uc003hnz.3_Missense_Mutation_p.P5L|LIN54_uc003hny.3_5'UTR|LIN54_uc010ijt.2_Missense_Mutation_p.P5L|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Missense_Mutation_p.P5L	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.	5					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CACCTCAGCTGGCACCACCTC	0.383000														126			24		0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96163702	96163702	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:96163702C>T	uc003hto.3	-	6	1339	c.986G>A	c.(985-987)gGa>gAa	p.G329E	UNC5C_uc010ilc.2_Missense_Mutation_p.G329E|UNC5C_uc003htq.3_Missense_Mutation_p.G329E	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	329	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCACTCAGTTCCACAAGTAGA	0.597000														17			7		0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136872763	136872763	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136872763G>A	uc002tuz.3	-	1	830	c.735C>T	c.(733-735)atC>atT	p.I245I	CXCR4_uc002tuy.3_Silent_p.I249I|CXCR4_uc010fnk.3_Silent_p.I230I	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	245					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	AGAAAGCCAGGATGAGGATGA	0.502000														111			19		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30938550	30938550	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:30938550G>A	uc009yjk.1	-	13	1732	c.1663C>T	c.(1663-1665)Cga>Tga	p.R555*	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Nonsense_Mutation_p.R214*	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	186	Doublecortin 2.				intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						GCCTTCATTCGAAGATGAGCT	0.413000														57			35		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64594170	64594170	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64594170C>T	uc001obs.4	-	34	4486	c.4486G>A	c.(4486-4488)Gaa>Aaa	p.E1496K		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1496					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						CCGAGGCCTTCGCTGCCCATG	0.677000														2			4		0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47228830	47228830	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:47228830G>A	uc002pfm.3	-	9	1378	c.1345C>T	c.(1345-1347)Cgt>Tgt	p.R449C	STRN4_uc002pfl.3_Missense_Mutation_p.R442C|STRN4_uc010xyf.2_Non-coding_Transcript|STRN4_uc010xyg.1_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	442						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	p.R442C(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GCCAGGGAACGAATGCCGTCG	0.612000														44			13		0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2272573	2272573	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:2272573G>A	uc003gex.2	-	12	2863	c.2543C>T	c.(2542-2544)tCg>tTg	p.S848L	ZFYVE28_uc011bvk.2_Missense_Mutation_p.S778L|ZFYVE28_uc011bvl.2_Missense_Mutation_p.S818L|ZFYVE28_uc003gew.2_Missense_Mutation_p.S734L	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	848					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGAGCAGCGCGAGCAGAAGAT	0.657000														30			4		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156819153	156819153	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156819153G>A	uc010pht.2	-	5	1628	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	443					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCGGGTTGAAGGCGAAGTAGA	0.602000														106			43		0	0	1	0	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971122	31971122	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:31971122G>A	uc011adc.2	-	0	72	c.72C>T	c.(70-72)ggC>ggT	p.G24G	KRTAP22-1_uc011add.2_5'Flank	NM_181604	NP_853635	Q3LI66	KRA62_HUMAN	Homo sapiens keratin associated protein 6-2 (KRTAP6-2), mRNA.	24						intermediate filament				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						CATAGCCATAGCCTAGGCCTT	0.572000														70			32		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31124949	31124949	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:31124949C>T	uc003tca.2	+	8	850	c.561C>T	c.(559-561)ttC>ttT	p.F187F	ADCYAP1R1_uc003tcg.3_Silent_p.F187F|ADCYAP1R1_uc003tce.2_Silent_p.F187F|ADCYAP1R1_uc003tcb.2_Silent_p.F166F|ADCYAP1R1_uc003tcc.2_Silent_p.F187F|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	187					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CACGCAACTTCATCCACATGA	0.532000														103			33		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976700	20976700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20976700C>T	uc010vbe.2	-	52	8506	c.8506G>A	c.(8506-8508)Gat>Aat	p.D2836N	DNAH3_uc010vbd.2_Missense_Mutation_p.D271N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2836	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AATTTCAGATCCCCAAGAATC	0.413000														91			19		0	0	1	0	0
ZNF155	7711	broad.mit.edu	37	19	44500820	44500820	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44500820C>T	uc010xwt.1	+	5	1028	c.844C>T	c.(844-846)Cat>Tat	p.H282Y	ZNF155_uc002oxy.1_Missense_Mutation_p.H271Y|ZNF155_uc002oxz.1_Missense_Mutation_p.H271Y	NM_198089	NP_932355	Q12901	ZN155_HUMAN	Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA.	271						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GGCCTTCATTCATGATTCCCA	0.393000														173			71		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61939428	61939428	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61939428G>A	uc011aau.2	+	6	861	c.761G>A	c.(760-762)gGg>gAg	p.G254E	COL20A1_uc011aav.2_Missense_Mutation_p.G75E	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	254	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TACAAGGGGGGGAACACGTTC	0.627000														28			12		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173447	51173447	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:51173447C>T	uc021tif.1	-	1	2717	c.2395G>A	c.(2395-2397)Gat>Aat	p.D799N	SALL1_uc021tid.1_Missense_Mutation_p.D799N|SALL1_uc021tie.1_Missense_Mutation_p.D896N|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	896					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTCAGGACATCCCCCTCGATG	0.537000														53			17		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580705	7580705	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7580705G>A	uc003mxp.1	+	22	4561	c.4282G>A	c.(4282-4284)Gaa>Aaa	p.E1428K	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1428	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.E1427K(1)		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)		GAGGGTGGAAGAAGACATCCA	0.488000														59			19		0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32650159	32650159	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:32650159G>A	uc003ami.3	-	1	179	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	59					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GACCAGCGAGGAAGAAGCCTC	0.532000														47			25		0	0	1	0	0
H1FOO	132243	broad.mit.edu	37	3	129267879	129267879	+	Silent	SNP	G	A	A	rs145471008		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:129267879G>A	uc003emu.3	+	2	419	c.414G>A	c.(412-414)agG>agA	p.R138R	H1FOO_uc003emv.3_5'UTR	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN	Homo sapiens H1 histone family, member O, oocyte-specific (H1FOO), mRNA.	138					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding	p.R138R(2)		endometrium(1)|lung(4)|skin(1)	6						TCCAGCCCAGGAAGATGGCCC	0.647000														30			5		0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71602146	71602146	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71602146G>A	uc002fap.2	-	11	1365	c.1266C>T	c.(1264-1266)gtC>gtT	p.V422V		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	422					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TCACCTCGGGGACTGTGATGA	0.512000														50			5		0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81643776	81643776	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:81643776G>A	uc003uhr.1	-	12	1419	c.1163C>T	c.(1162-1164)tCa>tTa	p.S388L	AK055932_uc003uhs.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	388	VWFA.					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)	TTGACCAACTGAAAACGTGAA	0.308000														46			13		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249706	52249706	+	Missense_Mutation	SNP	G	A	A	rs146075164		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52249706G>A	uc021uyn.1	-	2	688	c.542C>T	c.(541-543)tCg>tTg	p.S181L	FPR1_uc002pxq.3_Missense_Mutation_p.S181L|FPR1_uc021uyo.1_Missense_Mutation_p.S181L	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	181					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	p.S181L(2)		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)	GGTCCAGGGCGAAAAGTTAAA	0.527000														75			29		0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331096	85331096	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:85331096C>T	uc001dkl.2	-	0	747	c.708G>A	c.(706-708)aaG>aaA	p.K236K	LPAR3_uc009wcj.1_Silent_p.K236K	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	236					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TCTTCATTAGCTTCATGGGTG	0.498000														21			17		0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57268695	57268695	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:57268695G>A	uc001xcq.3	-	4	926	c.652C>T	c.(652-654)Cac>Tac	p.H218Y	OTX2_uc001xcp.3_Missense_Mutation_p.H210Y|OTX2_uc021rtm.1_Missense_Mutation_p.H40Y|OTX2_uc010aou.3_Missense_Mutation_p.H210Y	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	210					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GGAAGCTGGTGATGCATAGGG	0.522000														47			20		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	22078775	22078775	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:22078775C>T	uc010iuc.2	-	1	469	c.11G>A	c.(10-12)aGg>aAg	p.R4K	CDH12_uc011cno.1_Missense_Mutation_p.R4K|CDH12_uc003jgk.2_Missense_Mutation_p.R4K	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	4					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TAAACAGTTCCTTGTAAGCAT	0.463000										HNSCC(59;0.17)				28			31		0	0	1	0	0
IL5	3567	broad.mit.edu	37	5	131878811	131878811	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:131878811C>T	uc003kxe.1	-	1	196	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_000879	NP_000870	P05113	IL5_HUMAN	Homo sapiens interleukin 5 (colony-stimulating factor, eosinophil) (IL5), mRNA.	51					immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	AACAGGAATCCTCAGAGTCTG	0.328000														46			11		0	0	1	0	0
ME3	10873	broad.mit.edu	37	11	86209145	86209145	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:86209145C>T	uc001pbz.3	-	4	819	c.565G>A	c.(565-567)Gag>Aag	p.E189K	ME3_uc001pca.3_Missense_Mutation_p.E189K|ME3_uc009yvk.3_Missense_Mutation_p.E189K|ME3_uc010rtr.1_Non-coding_Transcript	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	189					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	AGGATGCGCTCCCCATCAGTC	0.627000														85			31		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111748007	111748007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:111748007G>A	uc001tsa.2	+	14	1575	c.1421G>A	c.(1420-1422)cGg>cAg	p.R474Q		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	474	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R474Q(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GACGGCACTCGGACTTTCTCG	0.697000														12			4		0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156635959	156635959	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156635959G>A	uc003lwo.1	+	1	280	c.198G>A	c.(196-198)gtG>gtA	p.V66V		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	66	PH.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGAGATTGTGAAAAGTGACA	0.463000			T	SYK	peripheral T-cell lymphoma									54			8		0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242814347	242814347	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242814347G>A	uc010fzu.1	+	1	663	c.640G>A	c.(640-642)Gac>Aac	p.D214N		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	214						integral to membrane											TACCAGCAATGACCAGGTGCC	0.667000														31			19		0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88945680	88945680	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:88945680C>T	uc002fmm.2	-	10	1949	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	CBFA2T3_uc002fml.2_Missense_Mutation_p.E468K|CBFA2T3_uc002fmk.2_Missense_Mutation_p.E53K	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	554					cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E554K(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GGCCCTACCTCGCTGGAGTCC	0.697000			T	RUNX1	AML									41			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072087	9072087	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9072087G>A	uc002mkp.3	-	2	15563	c.15359C>T	c.(15358-15360)tCt>tTt	p.S5120F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5122	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S5120S(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						TGTGTTTATAGAAGGAAAAAT	0.443000														69			28		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157659643	157659643	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157659643G>A	uc001fqz.4	-	9	2047	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Silent_p.L311L|FCRL3_uc001frb.3_Silent_p.L585L|FCRL3_uc001frc.1_Silent_p.L585L	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	585						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CAGCAAGGACGAGGATGCTGA	0.567000														49			30		0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	43990966	43990966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43990966G>A	uc002own.4	-	10	1565	c.1306C>T	c.(1306-1308)Ctc>Ttc	p.L436F	PHLDB3_uc010eit.3_Missense_Mutation_p.L140F	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 3 (PHLDB3), mRNA.	436										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				AGCTGGTAGAGGGGGTATCTG	0.612000														19			3		0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35463233	35463233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:35463233C>T	uc001mwf.3	-	7	923	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	PAMR1_uc001mwg.3_Missense_Mutation_p.E277K|PAMR1_uc010rew.2_Missense_Mutation_p.E166K|PAMR1_uc010rex.2_Missense_Mutation_p.E237K	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	277	Sushi 1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CAGTTTCTTTCTTCAAGGACT	0.398000														40			23		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14565186	14565186	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:14565186C>T	uc021wtn.1	-	5	714	c.714G>A	c.(712-714)agG>agA	p.R238R	GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_Silent_p.R141R	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	141					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TTGAAATGATCCTGGGGTTAT	0.517000														19			8		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9197355	9197355	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:9197355G>A	uc003jek.2	-	9	1705	c.993C>T	c.(991-993)ttC>ttT	p.F331F		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	331	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGGGCCCAGAGAAGGCCTGCG	0.602000														92			41		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746571	90746571	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90746571C>T	uc011lti.2	-	3	1410	c.1381G>A	c.(1381-1383)Gga>Aga	p.G461R		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	461																	TGGATCCTTCCACGTTGCCCC	0.542000														140			25		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125833454	125833454	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:125833454C>T	uc003eim.1	-	17	2218	c.2028G>A	c.(2026-2028)ggG>ggA	p.G676G	ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Silent_p.G575G|ALDH1L1_uc003ein.1_Silent_p.G211G	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	676	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GGGGTGACTTCCCGCCCAGTT	0.617000														73			37		0	0	1	0	0
CPOX	1371	broad.mit.edu	37	3	98312041	98312041	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:98312041G>A	uc003dsx.3	-	0	415	c.308C>T	c.(307-309)cCt>cTt	p.P103L	CPOX_uc011bgz.2_Missense_Mutation_p.P103L	NM_000097	NP_000088	P36551	HEM6_HUMAN	Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA.	103						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CGAGGTCTTAGGCAACATCTC	0.741000														12			6		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231150513	231150513	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:231150513G>A	uc002vql.3	+	16	1726	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Silent_p.A423A|SP140_uc002vqm.3_Silent_p.A477A|SP140_uc010fxl.3_Silent_p.A510A	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	537					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAAAGAAGGCGAACGTGAATC	0.443000														179			17		0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175111263	175111263	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:175111263C>T	uc003mdc.4	+	1	1671	c.1027C>T	c.(1027-1029)Cag>Tag	p.Q343*	HRH2_uc003mdd.2_Nonsense_Mutation_p.Q343*	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	343					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CCTGAAGCTCCAGGTGTGGAG	0.597000														132			45		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123556375	123556375	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:123556375G>A	uc010nqy.3	-	23	4282	c.4218C>T	c.(4216-4218)atC>atT	p.I1406I	ODZ1_uc011muj.2_Silent_p.I1405I|ODZ1_uc004euj.3_Silent_p.I1399I	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1399					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GGCGTCCTGCGATGATCCGAA	0.498000														40			40		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56026089	56026089	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:56026089C>T	uc021wzo.1	-	9	2391	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K	ERC2_uc003dhr.1_Missense_Mutation_p.E751K|ERC2_uc003dht.1_Missense_Mutation_p.E234K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	751						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.L750L(1)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ATTTACCTCTCCAGTTCTGCG	0.483000														152			9		0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65413779	65413779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65413779C>T	uc001ofb.2	+	6	1518	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C	SIPA1_uc010rom.1_Missense_Mutation_p.R451C|SIPA1_uc001ofd.2_Missense_Mutation_p.R451C|MIR4489_uc021qlo.1_5'Flank	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	451	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	p.R451H(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CACCACCATCCGCTCGCACTT	0.632000														88			36		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028767	37028767	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:37028767C>T	uc004ddl.2	+	0	2336	c.2284C>T	c.(2284-2286)Ctc>Ttc	p.L762F		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	762										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGTATCTCATCTCCGCCCGGA	0.632000														27			41		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175184890	175184890	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:175184890G>A	uc003fit.3	+	7	1538	c.1451G>A	c.(1450-1452)gGg>gAg	p.G484E	NAALADL2_uc003fiu.1_Missense_Mutation_p.G477E|NAALADL2_uc010hwy.1_Missense_Mutation_p.G258E|NAALADL2_uc010hwz.1_Missense_Mutation_p.G78E	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	484					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GTTAAGAGAGGGTGGAGACCA	0.423000														102			39		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34770216	34770216	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34770216C>T	uc002xfb.3	+	5	684	c.513C>T	c.(511-513)ttC>ttT	p.F171F	EPB41L1_uc002xeu.3_Silent_p.F109F|EPB41L1_uc010zvo.1_Silent_p.F171F|EPB41L1_uc002xev.3_Silent_p.F171F|EPB41L1_uc002xew.3_Silent_p.F74F|EPB41L1_uc002xex.3_Silent_p.F140F|EPB41L1_uc002xey.3_Silent_p.F171F|EPB41L1_uc002xez.3_Silent_p.F109F	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	171	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ATTTTGCCTTCACAGTCAAGT	0.577000														61			27		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3422738	3422738	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3422738G>A	uc001akl.3	-	14	2079	c.1852C>T	c.(1852-1854)Cgg>Tgg	p.R618W	MEGF6_uc001akk.3_Missense_Mutation_p.R513W	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	618	EGF-like 11.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CGGTGGCACCGGCCCCGGTTG	0.652000														10			5		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169111329	169111329	+	Missense_Mutation	SNP	G	A	A	rs139449745		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:169111329G>A	uc003maf.3	+	7	816	c.736G>A	c.(736-738)Gac>Aac	p.D246N	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	246					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			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)			GTCTCTCTACGACCCCAACAA	0.498000														151			12		0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57017042	57017042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:57017042C>T	uc003pdm.1	+	11	3000	c.2776C>T	c.(2776-2778)Ccg>Tcg	p.P926S	ZNF451_uc003pdl.3_Missense_Mutation_p.P926S|ZNF451_uc003pdn.1_Missense_Mutation_p.P878S|BC032020_uc003pdq.1_Intron	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	926					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTGGAAGCCTCCGCTCAACTG	0.363000														59			29		0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227192761	227192761	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:227192761G>A	uc001hqr.3	-	33	5747	c.4804C>T	c.(4804-4806)Cca>Tca	p.P1602S	CDC42BPA_uc001hqq.3_Missense_Mutation_p.P901S|CDC42BPA_uc001hqs.3_Missense_Mutation_p.P1521S|CDC42BPA_uc009xes.3_Missense_Mutation_p.P1574S|CDC42BPA_uc010pvs.2_Missense_Mutation_p.P1582S|CDC42BPA_uc001hqp.3_Missense_Mutation_p.P820S|CDC42BPA_uc001hqt.2_Missense_Mutation_p.P480S	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	1615					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GTGATAGATGGAATACTGACT	0.517000														99			28		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841655	8841655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8841655G>A	uc010xkg.2	+	0	265	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTGCGGGGAGAAGGTGCCAC	0.547000														63			26		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53215798	53215798	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53215798G>A	uc001sbb.3	-	8	1499	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	KRT79_uc001sba.3_Missense_Mutation_p.S260F	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	489	Tail.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCACCCAGGGAGATGCCACC	0.622000														57			13		0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33467054	33467054	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:33467054C>T	uc003jhy.3	+	17	2282	c.1987C>T	c.(1987-1989)Cga>Tga	p.R663*	TARS_uc010iup.1_Nonsense_Mutation_p.R604*|TARS_uc011coc.2_Nonsense_Mutation_p.R684*|TARS_uc003jhz.3_Nonsense_Mutation_p.R559*|TARS_uc011cod.2_Nonsense_Mutation_p.R542*	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	663					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.R663*(2)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TAAAAAGATTCGAAATGCACA	0.373000														58			28		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97987291	97987291	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:97987291G>A	uc001kls.4	-	4	414	c.236C>T	c.(235-237)tCg>tTg	p.S79L	BLNK_uc001kme.4_5'UTR|BLNK_uc001klt.4_5'UTR|BLNK_uc009xvc.3_Intron|BLNK_uc001klu.4_5'UTR|BLNK_uc001klv.4_Missense_Mutation_p.S79L|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Missense_Mutation_p.S79L|BLNK_uc001kly.4_Missense_Mutation_p.S79L|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.S79L|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_5'UTR|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	79					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CTCTGAGTCCGAGTGCTCATC	0.592000														130			16		0	0	1	0	0
YOD1	55432	broad.mit.edu	37	1	207222587	207222587	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207222587G>A	uc001hfe.1	-	1	872	c.825C>T	c.(823-825)ttC>ttT	p.F275F	PFKFB2_uc010psc.2_Intron|YOD1_uc001hff.1_Silent_p.F231F	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN	Homo sapiens YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae) (YOD1), mRNA.	275					ER-associated protein catabolic process|cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CTGGATCAGGGAAGTTACGCT	0.413000														179			74		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46801018	46801018	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46801018G>A	uc011dwh.1	+	9	1444	c.1436G>A	c.(1435-1437)gGg>gAg	p.G479E	MEP1A_uc010jzh.1_Missense_Mutation_p.G451E|MEP1A_uc011dwg.1_Missense_Mutation_p.G173E|MEP1A_uc011dwi.1_Missense_Mutation_p.G351E	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	451	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ACCAGCAAAGGGGACAAGCTT	0.483000														80			29		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115412772	115412772	+	Silent	SNP	G	A	A	rs149492667		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115412772G>A	uc001lal.3	-	5	656	c.492C>T	c.(490-492)ccC>ccT	p.P164P	NRAP_uc001laj.3_Silent_p.P164P|NRAP_uc001lak.3_Silent_p.P164P	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	164						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCTTGCCCCTGGGTTGCTCAT	0.473000														96			35		0	0	1	0	0
RBP1	5947	broad.mit.edu	37	3	139237318	139237318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:139237318C>T	uc003eti.2	-	2	596	c.485G>A	c.(484-486)gGt>gAt	p.G162D		NM_002899	NP_002890	P09455	RET1_HUMAN	Homo sapiens retinol binding protein 1, cellular (RBP1), transcript variant 1, mRNA.	100						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	CTCCTTCTCACCCTTCTGCAC	0.612000														79			5		0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104493142	104493142	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:104493142G>A	uc001yom.4	+	27	3178	c.3148G>A	c.(3148-3150)Gtc>Atc	p.V1050I	TDRD9_uc001yon.4_Missense_Mutation_p.V788I	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	1050					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CCTTGTGAAGGTCTTCTCTGT	0.572000														58			23		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173416	126173416	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:126173416G>A	uc003vlr.2	-	7	2331	c.2020C>T	c.(2020-2022)Cac>Tac	p.H674Y	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.H674Y|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	674					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AATATTCGGTGGATACGGTTT	0.502000										HNSCC(24;0.065)				87			23		0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7796584	7796584	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7796584G>A	uc002mhp.4	-	1	198	c.129C>T	c.(127-129)gtC>gtT	p.V43V	CLEC4G_uc021uny.1_Silent_p.V31V	NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	Homo sapiens C-type lectin domain family 4, member G (CLEC4G), transcript variant 1, mRNA.	43						integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CAGCCCAAAGGACTGTGGTGA	0.607000														34			19		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196786849	196786849	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196786849T>C	uc002utj.4	-	23	3999	c.3898A>G	c.(3898-3900)Agg>Ggg	p.R1300G		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1300	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATAACCAGCCTAGGGGAATTA	0.343000														44			20		0	0	1	0	0
MRM1	79922	broad.mit.edu	37	17	34964684	34964684	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:34964684C>T	uc002hne.3	+	4	1110	c.895C>T	c.(895-897)Ctt>Ttt	p.L299F	MRM1_uc002hnf.3_Missense_Mutation_p.L104F	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	Homo sapiens mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) (MRM1), nuclear gene encoding mitochondrial protein, mRNA.	299					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TGCAGGAATTCTTCTTCACTC	0.542000														108			82		0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169049242	169049242	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169049242G>A	uc003irm.3	+	1	190	c.26G>A	c.(25-27)gGa>gAa	p.G9E		NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	9							calcium ion binding|calcium-dependent phospholipid binding	p.Q8*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CAGGTGCAAGGAACCATCTTC	0.423000														36			28		0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34241243	34241243	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34241243G>A	uc021wcr.1	-	0	2002	c.2002C>T	c.(2002-2004)Ccc>Tcc	p.P668S	CPNE1_uc010zvj.2_Intron|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.P668S|RBM12_uc002xds.3_Missense_Mutation_p.P668S|RBM12_uc002xdr.3_Missense_Mutation_p.P668S|RBM12_uc021wcq.1_Missense_Mutation_p.P668S	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	668	Gly-rich.|Pro-rich.					nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACCGGGAAGTCCTGCA	0.587000														39			21		0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20482730	20482730	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20482730G>A	uc010tky.2	-	0	623	c.623C>T	c.(622-624)tCc>tTc	p.S208F		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ACAGCTCAAGGAAAGCAACCC	0.507000														38			20		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21856193	21856193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:21856193G>A	uc003svc.3	+	64	10493	c.10462G>A	c.(10462-10464)Gaa>Aaa	p.E3488K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3488	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATGTCCACCGAAAATGCCGC	0.493000									Kartagener syndrome					27			15		0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122664263	122664264	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:122664263_122664264CC>TT	uc021pzt.1	+	24	3379_3380	c.3133_3134CC>TT	c.(3133-3135)ccc>TTc	p.P1045F	WDR11_uc010qte.2_Missense_Mutation_p.P647F|WDR11_uc001lfd.1_Missense_Mutation_p.P563F|AX747838_uc001lfe.1_5'Flank	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	1045						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CTCGTCAGGCCCCTCTCAGAGC	0.446000														90			29		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781930	128781930	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:128781930G>A	uc001qet.3	+	1	1076	c.762G>A	c.(760-762)caG>caA	p.Q254Q	KCNJ5_uc009zck.3_Silent_p.Q254Q|KCNJ5_uc001qew.3_Silent_p.Q254Q	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	254					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CCCTGAACCAGACAGACATCA	0.592000														131			20		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220168485	220168485	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220168485G>A	uc002vkz.3	-	3	590	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	PTPRN_uc010zlc.2_Missense_Mutation_p.R27C|PTPRN_uc002vla.3_Missense_Mutation_p.R117C	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	117					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TCTGGGGGGCGAAGCCTGGGG	0.542000														36			12		0	0	1	0	0
LRRC58	116064	broad.mit.edu	37	3	120053973	120053973	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:120053973G>A	uc003edr.2	-	2	739	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C		NM_001099678	NP_001093148	Q96CX6	LRC58_HUMAN	Homo sapiens leucine rich repeat containing 58 (LRRC58), mRNA.	215										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		CTTAGGGAACGAAGTGAATGT	0.343000														51			15		0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86518880	86518880	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:86518880G>A	uc004ana.3	-	3	697	c.553C>T	c.(553-555)Ctt>Ttt	p.L185F	KIF27_uc010mpw.3_Missense_Mutation_p.L185F|KIF27_uc010mpx.3_Missense_Mutation_p.L185F	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	185	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATCTCCAAAAGACTCATCACT	0.408000														185			99		0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568987	140568987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140568987C>T	uc003liw.1	+	1	2093	c.2093C>T	c.(2092-2094)tCg>tTg	p.S698L	PCDHB10_uc003lix.3_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	699					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGTCTTCGCTCTTCCTC	0.697000														237			44		0	0	1	0	0
KLF11	8462	broad.mit.edu	37	2	10187786	10187786	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:10187786C>T	uc002raf.1	+	2	484	c.322C>T	c.(322-324)Cct>Tct	p.P108S	KLF11_uc021vdq.1_Missense_Mutation_p.P91S|KLF11_uc010yjc.2_Missense_Mutation_p.P91S	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	108					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GTGCATAACTCCTCCTCAGAG	0.413000														75			12		0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746637	158746637	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158746637C>T	uc010pir.2	-	0	789	c.789G>A	c.(787-789)aaG>aaA	p.K263K		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AATAGCTCTTCTTTAGCCGCA	0.443000														77			37		0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16977298	16977298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16977298C>T	uc002ney.2	+	12	1856	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	SIN3B_uc002nez.2_Silent_p.F579F|SIN3B_uc010xpi.1_Silent_p.F169F	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	611					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGTGAACTTCAAGCAGAACG	0.597000														84			26		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480398	140480398	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140480398G>A	uc003lio.3	+	0	165	c.165G>A	c.(163-165)agG>agA	p.R55R	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	55	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGGACTAAGGGTAGAGGAAC	0.512000														86			29		0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151818293	151818293	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151818293C>T	uc004ffp.1	+	5	719	c.699C>T	c.(697-699)ttC>ttT	p.F233F		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	233						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCTCAGTTCACTTTCCTGG	0.498000														50			36		0	0	1	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67440214	67440214	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67440214G>A	uc010vjm.2	-	2	445	c.141C>T	c.(139-141)ccC>ccT	p.P47P		NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	Homo sapiens zinc finger, DHHC-type containing 1 (ZDHHC1), mRNA.	47						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GCGGGTGAGGGGGCCAGCTCC	0.667000														12			5		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87145863	87145863	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87145863G>A	uc003uiz.2	-	24	3539	c.3046C>T	c.(3046-3048)Cct>Tct	p.P1016S	ABCB1_uc011khc.2_Missense_Mutation_p.P952S	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	1016					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)	TCAATCAAAGGGGTTTTTTCA	0.448000														107			31		0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58232411	58232411	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58232411T>A	uc002qpz.4	-	3	1142	c.1043A>T	c.(1042-1044)aAa>aTa	p.K348I	ZNF551_uc002qpx.3_Intron|ZNF671_uc010eug.3_Missense_Mutation_p.K271I|ZNF671_uc010yhf.2_Missense_Mutation_p.K250I	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	Homo sapiens zinc finger protein 671 (ZNF671), mRNA.	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCTAAAGAATTTCCCACATTC	0.448000														89			9		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14775702	14775702	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:14775702G>A	uc003ssz.3	-	3	473	c.286C>T	c.(286-288)Cca>Tca	p.P96S	DGKB_uc011jxt.2_Missense_Mutation_p.P89S|DGKB_uc003sta.3_Missense_Mutation_p.P96S|DGKB_uc011jxu.2_Missense_Mutation_p.P96S|DGKB_uc011jxv.1_Missense_Mutation_p.P96S	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	96					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|protein binding	p.P96Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTTACCATTGGACTAGAATGA	0.348000														14			4		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770051	15770051	+	Silent	SNP	C	T	T	rs140820169	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15770051C>T	uc010xok.2	+	12	1469	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	CYP4F3_uc010xol.2_Silent_p.F473F|CYP4F3_uc002nbj.3_Silent_p.F473F|CYP4F3_uc010xom.2_Silent_p.F324F|CYP4F3_uc002nbk.3_Silent_p.F473F|CYP4F3_uc010xon.2_Silent_p.F183F	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	473					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GGCAGGCGTTCGCGATGGCGG	0.672000														25			19		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188460	7188460	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7188460G>A	uc010sfy.2	-	8	1319	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	498	Sushi 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	GGGCAGCTGTGAGGATCCAGC	0.607000														39			5		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106815979	106815979	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106815979G>A	uc021ser.1	-	558		c.15748C>T								Parts of antibodies, mostly variable regions.																		CTCCCAGGCTGGACCACGCCT	0.577000														76			19		0	0	1	0	0
NKX2-1	7080	broad.mit.edu	37	14	36987098	36987098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:36987098G>A	uc001wtu.3	-	2	687	c.591C>T	c.(589-591)ctC>ctT	p.L197L	SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Silent_p.L167L|NKX2-1_uc001wtv.3_Silent_p.L167L|BX161496_uc001wtw.1_5'Flank	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.	167					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CCTGCGAGAAGAGCACCCGGC	0.672000			A		NSCLC									15			7		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394955	154394955	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:154394955C>T	uc010jih.1	+	0	1696	c.1536C>T	c.(1534-1536)acC>acT	p.T512T		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	512					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACGCTTTTACCACTCAGCATG	0.488000														78			30		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38847158	38847158	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38847158G>A	uc002oih.4	+	9	1257	c.1170G>A	c.(1168-1170)caG>caA	p.Q390Q	CATSPERG_uc002oig.4_Silent_p.Q390Q|CATSPERG_uc002oif.4_Silent_p.Q30Q|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	390					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGCCCAGGCAGTGGTCTGTGT	0.607000														78			23		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42196398	42196398	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:42196398G>A	uc003ose.2	-	17	3911	c.3348C>T	c.(3346-3348)ttC>ttT	p.F1116F	TRERF1_uc011duq.1_Silent_p.F1013F|TRERF1_uc003osb.2_Silent_p.F864F|TRERF1_uc003osc.2_Silent_p.F852F|TRERF1_uc003osd.2_Silent_p.F1096F	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	1096	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTTTGATCTTGAAGAAGACTC	0.468000														344			159		0	0	1	0	0
FBXW2	26190	broad.mit.edu	37	9	123550268	123550268	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:123550268A>C	uc004bkn.2	-	2	692	c.365T>G	c.(364-366)gTg>gGg	p.V122G	FBXW2_uc011lyc.1_5'UTR|FBXW2_uc004bkl.1_Missense_Mutation_p.V90G|FBXW2_uc004bkm.1_Missense_Mutation_p.V90G|FBXW2_uc010mvj.1_Missense_Mutation_p.V90G	NM_012164	NP_036296	Q9UKT8	FBXW2_HUMAN	Homo sapiens F-box and WD repeat domain containing 2 (FBXW2), mRNA.	90					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						GGCACTTATCACCTTATTCCA	0.443000														108			37		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124045712	124045712	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124045712C>T	uc001lgc.1	+	4	585	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	BTBD16_uc001lgd.1_Silent_p.L111L	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	112										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCTGAAAGCCCTGGCGCAGGG	0.602000														115			52		0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53205028	53205028	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:53205028G>A	uc002xwy.3	+	2	401	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	61	PH.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			TCAGGTTACAGAACTCAATAA	0.408000														99			41		0	0	1	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93134671	93134671	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:93134671C>T	uc001tcj.2	+	2	276	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 7 (PLEKHG7), mRNA.	16	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.Y15Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TCATGAATATCTCCTAGATGT	0.323000														50			16		0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53120603	53120603	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:53120603C>T	uc002iuf.1	+	10	1069	c.862C>T	c.(862-864)Cct>Tct	p.P288S	STXBP4_uc010dcc.1_Missense_Mutation_p.P213S|STXBP4_uc010dcd.1_Missense_Mutation_p.P288S	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	288						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						ATAGCTTCTTCCTTGTGATTC	0.323000														22			7		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938588	2938588	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:2938588C>T	uc001ajz.3	+	0	543	c.338C>T	c.(337-339)tCc>tTc	p.S113F		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	113						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		ACGGAGCCCTCCCTGAACCCC	0.602000														61			32		0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212149950	212149950	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:212149950G>A	uc001hiw.2	-	11	1805	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	INTS7_uc001hix.2_Missense_Mutation_p.R404C|INTS7_uc009xdb.2_Missense_Mutation_p.R528C|INTS7_uc001hiy.2_Missense_Mutation_p.R528C|INTS7_uc010pta.2_Missense_Mutation_p.R479C	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	Homo sapiens integrator complex subunit 7 (INTS7), transcript variant 1, mRNA.	528					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CTGGCAATACGGTATACAGTC	0.408000														91			43		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130865584	130865584	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:130865584G>A	uc010fmh.2	-	7	1524	c.1124C>T	c.(1123-1125)cCa>cTa	p.P375L		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	375						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGTCTTACCTGGATTGCTGTT	0.363000														62			10		0	0	1	0	0
TNFSF18	8995	broad.mit.edu	37	1	173010692	173010692	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:173010692G>A	uc001giu.2	-	2	416	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.	139					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						TTTTTATACAGCCGCACCTCA	0.383000														81			23		0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116277770	116277770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:116277770G>A	uc003pwi.1	-	4	1250	c.803C>T	c.(802-804)tCa>tTa	p.S268L		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	268	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TGGATCCATTGAACCTGAAAC	0.433000														35			29		0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201752810	201752810	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201752810C>T	uc021phi.1	+	6	2981	c.2634C>T	c.(2632-2634)ctC>ctT	p.L878L	NAV1_uc001gwu.3_Silent_p.L878L|NAV1_uc001gwv.1_Silent_p.L386L|NAV1_uc001gww.2_Silent_p.L487L|NAV1_uc001gwx.3_Silent_p.L487L|NAV1_uc001gwy.1_Silent_p.L259L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	878					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						ACCCCAAACTCTCAGGCCTGC	0.597000														72			35		0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63276414	63276414	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63276414G>A	uc001nxc.2	+	2	733	c.392G>A	c.(391-393)aGa>aAa	p.R131K	LGALS12_uc001nxa.2_Missense_Mutation_p.R130K|LGALS12_uc001nxb.2_Missense_Mutation_p.R130K|LGALS12_uc001nxd.2_Missense_Mutation_p.R69K|LGALS12_uc001nxe.2_Missense_Mutation_p.R69K|LGALS12_uc009yot.2_Missense_Mutation_p.R90K	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	130	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GCCCTGCGAAGAGGCTCCAGC	0.592000														54			18		0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96332162	96332162	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:96332162C>T	uc003kmv.1	+	6	1990	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	LNPEP_uc003kmw.1_Silent_p.F478F	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	492					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTGCCACTTTCATGGAGTATT	0.393000														53			11		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37441019	37441019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:37441019G>A	uc021ppc.1	+	11	1608	c.1509G>A	c.(1507-1509)aaG>aaA	p.K503K	ANKRD30A_uc001iza.1_Silent_p.K503K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	559						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.K503N(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCAAACAAAAGGACTATGAAG	0.294000														89			23		0	0	1	0	0
PISD	23761	broad.mit.edu	37	22	32017780	32017780	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:32017780G>A	uc003alm.4	-	3	471	c.413C>T	c.(412-414)cCc>cTc	p.P138L	PISD_uc003alk.2_Missense_Mutation_p.P104L|PISD_uc011alr.1_Missense_Mutation_p.P104L	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	Homo sapiens phosphatidylserine decarboxylase (PISD), mRNA.	138					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	GCTGTAGACGGGCCTGCGCAG	0.617000														53			39		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198725306	198725306	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:198725306C>T	uc001gur.1	+	32	4091	c.3911C>T	c.(3910-3912)tCa>tTa	p.S1304L	PTPRC_uc001gut.1_Missense_Mutation_p.S1143L	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	1304					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AATCAAGGTTCATAGGAAAAG	0.413000														40			17		0	0	1	0	0
LETMD1	25875	broad.mit.edu	37	12	51442255	51442255	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51442255C>T	uc009zlw.3	+	0	174	c.116C>T	c.(115-117)gCc>gTc	p.A39V	LETMD1_uc010smz.2_Missense_Mutation_p.A39V|LETMD1_uc010sna.2_Missense_Mutation_p.A39V|LETMD1_uc001rxm.3_Missense_Mutation_p.A39V|LETMD1_uc001rxn.3_5'UTR|LETMD1_uc001rxo.3_Non-coding_Transcript|LETMD1_uc001rxr.3_Non-coding_Transcript|LETMD1_uc001rxl.3_Intron|LETMD1_uc001rxt.3_5'Flank	NM_001243689	NP_001230618	Q6P1Q0	LTMD1_HUMAN	Homo sapiens LETM1 domain containing 1 (LETMD1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	39	Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GCTTGGGGGGCCCCTCGGTGA	0.577000											OREG0021818	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			43		0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52308303	52308303	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52308303G>A	uc001rzj.3	+	5	989	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	ACVRL1_uc001rzk.3_Missense_Mutation_p.E236K|ACVRL1_uc010snm.2_Missense_Mutation_p.E62K	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	236	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CTCGAGGGATGAACAGTCCTG	0.592000														25			13		0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21459852	21459852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21459852C>T	uc001rer.3	-	3	657	c.406G>A	c.(406-408)Gga>Aga	p.G136R	SLCO1A2_uc010siq.2_Missense_Mutation_p.G4R|SLCO1A2_uc001res.3_Missense_Mutation_p.G136R|SLCO1A2_uc010sio.2_Missense_Mutation_p.G4R|SLCO1A2_uc010sip.2_Missense_Mutation_p.G4R|SLCO1A2_uc001ret.3_Missense_Mutation_p.G134R|SLCO1A2_uc001reu.2_Missense_Mutation_p.G116R	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	136					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ATCTGGGTTCCATTTTCCATA	0.358000														54			11		0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73951407	73951407	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:73951407C>T	uc003pgo.3	-	4	1060	c.559G>A	c.(559-561)Gat>Aat	p.D187N	KHDC1_uc011dyl.1_Intron|KHDC1_uc003pgn.4_Missense_Mutation_p.D114N	NM_001251874	NP_001238803	Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA.	187						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						ACCAGGTCATCGTTGGTCAGA	0.557000														64			9		0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149323976	149323976	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149323976G>A	uc003lrg.4	-	0	381	c.261C>T	c.(259-261)ttC>ttT	p.F87F	PDE6A_uc021yfs.1_Silent_p.F87F	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	87	GAF 1.				GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCTGCAGGAGGAAGCACAGCT	0.517000														63			6		0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10792813	10792813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10792813C>T	uc002mpn.3	+	11	1642	c.1325C>T	c.(1324-1326)tCa>tTa	p.S442L	ILF3_uc010xli.1_Missense_Mutation_p.S40L|ILF3_uc002mpm.2_Missense_Mutation_p.S442L|ILF3_uc002mpl.2_Missense_Mutation_p.S442L|ILF3_uc002mpk.2_Missense_Mutation_p.S442L|ILF3_uc002mpo.3_Missense_Mutation_p.S442L|ILF3_uc002mpp.3_Missense_Mutation_p.S263L	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	442	DRBM 1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GATGGCAATTCATTCGAGGCC	0.557000														77			7		0	0	1	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435525	104435525	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:104435525C>T	uc003kok.3	+	0		c.351C>T								Homo sapiens RAB9B, member RAS oncogene family pseudogene 1 (RAB9BP1), non-coding RNA.																		CAAAAGCTTTCCTTTTGTAAT	0.413000														41			13		0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17675478	17675478	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:17675478G>A	uc003ncd.1	-	3	905	c.705C>T	c.(703-705)gcC>gcT	p.A235A	NUP153_uc011dje.1_Silent_p.A235A|NUP153_uc010jpl.1_Silent_p.A235A	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	235					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTGTTCCAAAGGCAGACAAGT	0.408000														74			25		0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094548	46094548	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46094548G>A	uc002pcm.3	-	1	1522	c.577C>T	c.(577-579)Ccg>Tcg	p.P193S	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.P193S	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	193						integral to plasma membrane	G-protein coupled receptor activity	p.P193P(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		AGCGCCCACGGGAAGAGGAAG	0.642000														62			15		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620296	7620296	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:7620296G>A	uc003bqm.2	+	7	1977	c.1703G>A	c.(1702-1704)aGg>aAg	p.R568K	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.R568K|GRM7_uc003bql.2_Missense_Mutation_p.R568K|GRM7_uc003bqn.1_Missense_Mutation_p.R151K|GRM7_uc010hch.1_Missense_Mutation_p.R79K	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	568					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TATGACCAGAGGCCCAATGAA	0.522000														97			53		0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44118029	44118029	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:44118029C>T	uc003owr.3	+	16	1653	c.1589C>T	c.(1588-1590)cCc>cTc	p.P530L	TMEM63B_uc003ows.3_Missense_Mutation_p.P433L|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	530						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTGCTCCTACCCTCGCTGGGA	0.592000														68			32		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15713626	15713626	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15713626C>T	uc001ioc.1	-	7	823	c.823G>A	c.(823-825)Gag>Aag	p.E275K	ITGA8_uc010qcb.1_Intron	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	275					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCAGTAAACTCCCCAGCAGCA	0.353000														50			17		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41316121	41316121	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:41316121C>T	uc001rmm.1	+	4	404	c.291C>T	c.(289-291)aaC>aaT	p.N97N	CNTN1_uc009zjy.2_Silent_p.N97N|CNTN1_uc001rmn.1_Silent_p.N86N|CNTN1_uc001rmo.3_Silent_p.N97N	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	97	Ig-like C2-type 1.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TAGGAGGAAACCTTGTTATCA	0.408000														74			17		0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238726810	238726810	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:238726810C>T	uc002vxi.4	+	2	1383	c.1251C>T	c.(1249-1251)atC>atT	p.I417I		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	416							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TACCAAAGATCGCAGTCAGAG	0.373000														38			17		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2705137	2705137	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2705137G>A	uc009zdu.1	+	19	3074	c.2761G>A	c.(2761-2763)Gac>Aac	p.D921N	CACNA1C_uc001qkc.2_Missense_Mutation_p.D921N|CACNA1C_uc001qjz.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkd.2_Missense_Mutation_p.D921N|CACNA1C_uc001qke.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkf.2_Missense_Mutation_p.D921N|CACNA1C_uc009zdw.1_Missense_Mutation_p.D921N|CACNA1C_uc001qkg.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkh.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkl.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkj.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkk.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkn.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkm.2_Missense_Mutation_p.D921N|CACNA1C_uc001qko.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkp.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkq.2_Missense_Mutation_p.D921N|CACNA1C_uc001qku.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkr.2_Missense_Mutation_p.D921N|CACNA1C_uc001qks.2_Missense_Mutation_p.D921N|CACNA1C_uc001qkt.2_Missense_Mutation_p.D921N|CACNA1C_uc009zdv.1_Missense_Mutation_p.D918N|CACNA1C_uc001qkb.2_Missense_Mutation_p.D921N|CACNA1C_uc001qka.1_Missense_Mutation_p.D456N|CACNA1C_uc001qki.1_Missense_Mutation_p.D657N	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	921					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGCTGCTGAGGACCCGGTCCA	0.572000														70			21		0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12691844	12691844	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12691844G>A	uc002mtz.2	-	4	1174	c.1045C>T	c.(1045-1047)Ctt>Ttt	p.L349F		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TGTTTTCGAAGGCTTGAGTGA	0.448000														108			27		0	0	1	0	0
AK302306	0	broad.mit.edu	37	15	28600112	28600112	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:28600112C>T	uc010uaf.1	-	2	236	c.218G>A	c.(217-219)aGg>aAg	p.R73K	DQ595648_uc021sgj.1_5'Flank					SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ59579, weakly similar to Homo sapiens golgi autoantigen, golgin subfamily a-like, mRNA;																		CTCTAGCTCCCTCCTTAGGGC	0.507000														60			8		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57771017	57771017	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:57771017C>T	uc002yan.3	+	1	3832	c.3832C>T	c.(3832-3834)Cgt>Tgt	p.R1278C		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1278						intracellular	nucleic acid binding|zinc ion binding	p.R1278C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAAGATGTCTCGTGGGAACAG	0.498000														147			36		0	0	1	0	0
EVL	51466	broad.mit.edu	37	14	100563966	100563966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:100563966C>T	uc001ygu.3	+	2	416	c.329C>T	c.(328-330)gCc>gTc	p.A110V	EVL_uc001ygt.3_Missense_Mutation_p.A108V|EVL_uc001ygv.2_Missense_Mutation_p.A114V	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Homo sapiens Enah/Vasp-like (EVL), mRNA.	108	WH1.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	SH3 domain binding|actin binding|profilin binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				ATGCTGTTTGCCCTGAACATC	0.522000														69			10		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43625187	43625187	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:43625187G>A	uc002rsw.4	-	28	4502	c.4150C>T	c.(4150-4152)Cga>Tga	p.R1384*	THADA_uc010far.3_Nonsense_Mutation_p.R579*|THADA_uc002rsx.4_Nonsense_Mutation_p.R1384*|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Nonsense_Mutation_p.R1093*|THADA_uc010fat.1_Nonsense_Mutation_p.R531*	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1384							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AACAGAGTTCGAATGGTATTA	0.493000														73			50		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14022146	14022146	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:14022146G>A	uc003wwq.3	-	4	1150	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L	SGCZ_uc010lss.3_Silent_p.L117L	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	151					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GCAGAAAACAGCACCCTGCCA	0.408000														72			10		0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123888069	123888069	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:123888069C>T	uc004bkx.1	+	11	1911	c.1880C>T	c.(1879-1881)aCc>aTc	p.T627I	CNTRL_uc004bky.1_Missense_Mutation_p.T231I|CNTRL_uc004bkz.1_Missense_Mutation_p.T75I|CNTRL_uc004bla.1_Missense_Mutation_p.T75I	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	627					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TACCTGGGGACCATTAAAGGC	0.478000														102			29		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237863598	237863598	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:237863598G>A	uc001hyl.1	+	64	9318	c.9198G>A	c.(9196-9198)gaG>gaA	p.E3066E	RYR2_uc010pxz.1_Silent_p.E21E	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3066					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)			ACGCTGCAGAGGATCTGGAGA	0.483000														9			4		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46903410	46903410	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:46903410C>T	uc001ndn.4	-	19	2900	c.2657G>A	c.(2656-2658)cGa>cAa	p.R886Q		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	886					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CATGCCAGCTCGTTCAATCTT	0.512000														41			6		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176308482	176308482	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176308482G>A	uc003mfa.3	-	17	2540	c.2448C>T	c.(2446-2448)ccC>ccT	p.P816P	HK3_uc003mez.3_Silent_p.P372P	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	816	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGAGGTCAGGGGTAGCCCCA	0.652000														31			10		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873228	55873228	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55873228C>T	uc010riy.2	+	0	710	c.710C>T	c.(709-711)gCt>gTt	p.A237V		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AAGCAGAAAGCTTTCTCTACT	0.388000										HNSCC(53;0.14)				101			26		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107868959	107868959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:107868959C>T	uc022ccg.1	+	34	3243	c.3041C>T	c.(3040-3042)cCt>cTt	p.P1014L	COL4A5_uc004enz.1_Missense_Mutation_p.P1014L|COL4A5_uc004eob.1_Missense_Mutation_p.P622L	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1014	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTGGTCTCCCTGGACAGCCA	0.433000									Alport syndrome with Diffuse Leiomyomatosis					18			6		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635402	33635402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:33635402C>T	uc001uus.3	+	3	2194	c.2186C>T	c.(2185-2187)gCc>gTc	p.A729V	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	729	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ATATCCATAGCCTTGCAGGCT	0.493000														62			6		0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100491646	100491647	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100491646_100491647CC>TT	uc003uxd.3	-	0	363_364	c.207_208GG>AA	c.(205-210)gcggag>gcAAag	p.E70K	ACHE_uc003uxe.3_Missense_Mutation_p.E70K|ACHE_uc003uxf.3_Missense_Mutation_p.E70K|ACHE_uc003uxg.3_Missense_Mutation_p.E70K|ACHE_uc003uxh.3_Missense_Mutation_p.E70K|ACHE_uc003uxi.3_Missense_Mutation_p.E70K|ACHE_uc003uxj.1_Missense_Mutation_p.E189K	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	70					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	ATGGGTGGCTCCGCAAAGGGGA	0.649000														24			8		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234197	21234197	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21234197G>A	uc002red.3	-	25	5671	c.5543C>T	c.(5542-5544)tCa>tTa	p.S1848L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1848					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATAGCTTGCTGATAAGGCAGC	0.478000														164			18		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215820886	215820886	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:215820886G>A	uc001hku.1	-	66	15156	c.14769C>T	c.(14767-14769)atC>atT	p.I4923I		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4923	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W4922*(2)		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)		TGGTGAAACTGATCCACTCGG	0.532000										HNSCC(13;0.011)				42			24		0	0	1	0	0
GEM	2669	broad.mit.edu	37	8	95265325	95265325	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:95265325C>T	uc003ygi.3	-	2	471	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	GEM_uc003ygj.3_Missense_Mutation_p.R116Q	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	116					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATCAGGGTTCGTTCATATGT	0.413000														87			42		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40980866	40980866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:40980866C>T	uc002xkg.3	-	9	1804	c.1620G>A	c.(1618-1620)ggG>ggA	p.G540G	PTPRT_uc010ggj.3_Silent_p.G540G	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	540	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGAACACTTTCCCCCTCTGGC	0.527000														90			29		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179510666	179510666	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179510666C>T	uc021vsy.1	-	165	32910	c.32685G>A	c.(32683-32685)gaG>gaA	p.E10895E	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_Silent_p.E162E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11822	Glu-rich.|Pro-rich.						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)			GGAATATTTTCTCCTTCACAT	0.408000														9			3		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52395327	52395327	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52395327C>T	uc011bef.2	+	28	5094	c.4833C>T	c.(4831-4833)ctC>ctT	p.L1611L		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1611	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGACCAGCTCGACTTCATGG	0.607000														15			5		0	0	1	0	0
AVEN	57099	broad.mit.edu	37	15	34160047	34160047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34160047G>A	uc001zhj.3	-	4	678	c.622C>T	c.(622-624)Cct>Tct	p.P208S		NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	Homo sapiens apoptosis, caspase activation inhibitor (AVEN), mRNA.	208					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		ACCTCTAAAGGAACTGTACCC	0.448000														71			21		0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82574877	82574877	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:82574877C>T	uc002bgv.3	+	2	740	c.671C>T	c.(670-672)cCa>cTa	p.P224L	FAM154B_uc010unr.2_Missense_Mutation_p.P209L|FAM154B_uc010uns.2_Non-coding_Transcript	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	Homo sapiens family with sequence similarity 154, member B (FAM154B), mRNA.	224										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						AGTTTTCAACCATGGGAAATC	0.463000														99			26		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677717	100677717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100677717C>T	uc003uxp.1	+	2	3073	c.3020C>T	c.(3019-3021)cCt>cTt	p.P1007L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1007	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACAACTCCTGTTGACTCC	0.522000														550			195		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176016169	176016169	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176016169C>T	uc021yie.1	+	21	3268	c.2994C>T	c.(2992-2994)ttC>ttT	p.F998F	CDHR2_uc003mem.2_Silent_p.F998F|CDHR2_uc003men.1_Silent_p.F998F	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	998	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCGACGTGTTCGCTGGGAGCA	0.612000														162			60		0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55912417	55912417	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:55912417G>A	uc002adg.3	-	19	3294	c.3246C>T	c.(3244-3246)acC>acT	p.T1082T		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	1082					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TTAATACAGTGGTGCCTGGCT	0.468000														87			32		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14747289	14747289	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:14747289G>A	uc003zlm.3	-	33	6798	c.5982C>T	c.(5980-5982)tcC>tcT	p.S1994S	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Silent_p.S530S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1994					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGTCAGTTGTGGATTCCACCT	0.423000														131			40		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330004	125330004	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125330004G>A	uc004bmp.1	-	0	753	c.753C>T	c.(751-753)ctC>ctT	p.L251L		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTCCATAAAAGAGCGTCACCA	0.463000														35			10		0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67260957	67260957	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:67260957A>G	uc002jif.2	-	22	4452	c.3234T>C	c.(3232-3234)ttT>ttC	p.F1078F	ABCA5_uc002jib.2_Silent_p.F44F|ABCA5_uc002jic.2_Silent_p.F301F|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Silent_p.F1078F	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1078					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TAAGAATGATAAAAAATAAGG	0.308000														95			26		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582700	55582700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:55582700C>T	uc010qhy.1	-	34	5202	c.4807G>A	c.(4807-4809)Gat>Aat	p.D1603N	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.D1598N|PCDH15_uc021pqz.1_Missense_Mutation_p.D1573N|PCDH15_uc010qhv.1_Missense_Mutation_p.D1593N|PCDH15_uc010qhw.1_Missense_Mutation_p.D1556N|PCDH15_uc010qhx.1_Missense_Mutation_p.D1527N|PCDH15_uc010qhz.1_Missense_Mutation_p.D1598N|PCDH15_uc010qia.1_Missense_Mutation_p.D1576N|PCDH15_uc001jju.1_Missense_Mutation_p.D1596N|PCDH15_uc010qib.1_Missense_Mutation_p.D1573N	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1596					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	p.D1596Y(1)		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)				TGCTGCAGATCTATGATCTCT	0.468000										HNSCC(58;0.16)				173			16		0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890618	229890618	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:229890618G>A	uc002vpr.4	-	2	521	c.483C>T	c.(481-483)ttC>ttT	p.F161F	PID1_uc002vps.4_Silent_p.F159F|PID1_uc002vpt.4_Silent_p.F128F|PID1_uc002vpu.4_Silent_p.F79F	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	161	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GGGCCACCTGGAAGGTATCCA	0.572000														75			29		0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132623221	132623221	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:132623221C>T	uc004bys.2	+	6	547	c.336C>T	c.(334-336)tcC>tcT	p.S112S	USP20_uc004byr.2_Silent_p.S112S|USP20_uc004byt.1_Silent_p.S112S	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	112					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CACAGGACTCCCCGCCACCCT	0.567000														136			70		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120702688	120702688	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:120702688C>T	uc001pxn.2	+	6	926	c.639C>T	c.(637-639)gcC>gcT	p.A213A	GRIK4_uc009zav.1_Silent_p.A213A|GRIK4_uc009zaw.1_Silent_p.A213A|GRIK4_uc009zax.1_Silent_p.A213A	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	213					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.A213T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	ACAAGACCGCCACCATCATCA	0.642000														161			13		0	0	1	0	0
ASCL1	429	broad.mit.edu	37	12	103352675	103352675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:103352675C>T	uc001tjr.4	+	0	1224	c.653C>T	c.(652-654)tCt>tTt	p.S218F	ASCL1_uc021rcu.1_Missense_Mutation_p.S218F	NM_004316	NP_004307	P50553	ASCL1_HUMAN	Homo sapiens achaete-scute complex homolog 1 (Drosophila) (ASCL1), mRNA.	218					Notch signaling pathway|cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	E-box binding|bHLH transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						GACGAGGGCTCTTACGACCCG	0.632000														41			14		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61525396	61525396	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61525396G>A	uc002ydr.2	-	11	3035	c.2723C>T	c.(2722-2724)cCt>cTt	p.P908L	DIDO1_uc002yds.2_Missense_Mutation_p.P908L|DIDO1_uc002ydt.2_Missense_Mutation_p.P908L|DIDO1_uc002ydu.2_Missense_Mutation_p.P908L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	908					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGCAACTTCAGGCACAGCCTC	0.532000														89			47		0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71471960	71471960	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71471960G>A	uc003hfl.3	+	12	958	c.857G>A	c.(856-858)aGg>aAg	p.R286K		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	286					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GGAGGCATGAGGCCCGGCTTT	0.537000														70			23		0	0	1	0	0
GHDC	84514	broad.mit.edu	37	17	40344692	40344693	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:40344692_40344693GG>AT	uc002hzd.3	-	3	939_940	c.455_456CC>AT	c.(454-456)gcc>gAT	p.A152D	GHDC_uc002hzg.2_Missense_Mutation_p.A152D|GHDC_uc010wgg.2_Missense_Mutation_p.A113D|GHDC_uc002hze.4_Missense_Mutation_p.A152D|GHDC_uc002hzf.4_Missense_Mutation_p.A152D|GHDC_uc010cxz.2_Non-coding_Transcript	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	152						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GCGTCACACGGGCAGTGCGTCC	0.639000														36			20		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51742772	51742772	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51742772G>A	uc002pwa.2	+	7	965	c.925_splice	c.e7-1	p.K309_splice	CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Splice_Site_p.K182_splice|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	309					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CTCTCCATAAGAAACACCAGA	0.502000														41			19		0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19105985	19105985	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19105985G>A	uc002nkz.1	-	8	3158	c.3138C>T	c.(3136-3138)tcC>tcT	p.S1046S	SUGP2_uc002nkx.2_Silent_p.S1032S|SUGP2_uc002nla.1_Silent_p.S1032S|SUGP2_uc002nlb.2_Silent_p.S1032S|SUGP2_uc010xqk.1_Silent_p.S801S	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	1032	G-patch.				RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTTTCCGAGGGAGCCCAGGC	0.642000														36			13		0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142537228	142537228	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:142537228G>A	uc003evd.3	-	8	1504	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	399	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TCTTGGTCTTGAACATCATGA	0.378000														84			32		0	0	1	0	0
PHYH	5264	broad.mit.edu	37	10	13325819	13325819	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:13325819G>A	uc001imf.3	-	6	787	c.699C>T	c.(697-699)ttC>ttT	p.F233F	PHYH_uc001ime.3_Silent_p.F133F	NM_006214	NP_001032626	O14832	PAHX_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA.	233					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GGATCCCGTGGAACATTTTGT	0.478000														427			39		0	0	1	0	0
CA5A	763	broad.mit.edu	37	16	87936081	87936081	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:87936081C>T	uc002fkn.1	-	3	561	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_001739	NP_001730	P35218	CAH5A_HUMAN	Homo sapiens carbonic anhydrase VA, mitochondrial (CA5A), nuclear gene encoding mitochondrial protein, mRNA.	169					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		ACGACAGCTTCCTTGTAATTT	0.393000														49			26		0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36564767	36564767	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:36564767G>A	uc001bzv.2	-	1	522	c.515C>T	c.(514-516)cCt>cTt	p.P172L	COL8A2_uc001bzw.2_Missense_Mutation_p.P107L	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	172	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGTTTTCCAGGGATAGTAAT	0.716000														6			6		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55142266	55142266	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55142266C>T	uc003pcl.3	+	4	1166	c.851C>T	c.(850-852)tCc>tTc	p.S284F	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	284					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)			CCAACGAAGTCCCGGATGAGC	0.502000														46			13		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117655926	117655926	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117655926C>T	uc001twn.2	-	28	5027	c.4316G>A	c.(4315-4317)cGa>cAa	p.R1439Q	NOS1_uc021ren.1_Missense_Mutation_p.R1069Q|NOS1_uc021reo.1_Missense_Mutation_p.R1069Q|NOS1_uc001twm.2_Missense_Mutation_p.R1405Q	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1405					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTCGTACGTTCGCAGGGTGAC	0.478000														292			78		0	0	1	0	0
FCGR2C	9103	broad.mit.edu	37	1	161569556	161569556	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161569556C>T	uc021pdi.1	+	6		c.1034C>T				NM_201563				Homo sapiens Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) (FCGR2C), mRNA.											lung(2)	2	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ATCTACCTGACTCTTCCTCCC	0.463000														76			45		0	0	1	0	0
WBSCR16	81554	broad.mit.edu	37	7	74470049	74470049	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:74470049G>A	uc003ubr.3	-	8	1316	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	WBSCR16_uc010lca.3_Missense_Mutation_p.S200F|WBSCR16_uc010lcb.1_Missense_Mutation_p.S397F	NM_030798	NP_110425	Q96I51	WBS16_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 16 (WBSCR16), mRNA.	397										kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TCGGATGCGGGAAACCTGGAT	0.537000														67			26		0	0	1	0	0
CLIC5	53405	broad.mit.edu	37	6	45882124	45882124	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:45882124C>T	uc003oxv.3	-	4	1012	c.906G>A	c.(904-906)aaG>aaA	p.K302K	CLIC5_uc003oxu.3_Silent_p.K143K|CLIC5_uc003oxw.3_Non-coding_Transcript|CLIC5_uc003oxx.3_Silent_p.K143K	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	302	GST C-terminal.				female pregnancy	Golgi apparatus|actin cytoskeleton|cell cortex|chloride channel complex|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						TCTTTAGAGCCTTGGTTAGGC	0.493000														108			12		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180056987	180056987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:180056987C>T	uc003mlz.4	-	4	711	c.632G>A	c.(631-633)gGa>gAa	p.G211E	FLT4_uc003mma.4_Missense_Mutation_p.G211E|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Missense_Mutation_p.G211E|FLT4_uc011dgz.1_Missense_Mutation_p.G211E|FLT4_uc011dha.1_Missense_Mutation_p.E195K	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	211	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTCCTGGTCTCCCCAGGTGGT	0.642000														36			25		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9449315	9449315	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9449315G>A	uc021wam.1	+	31	3325	c.3310G>A	c.(3310-3312)Gaa>Aaa	p.E1104K	PLCB4_uc010gbx.3_Missense_Mutation_p.E1116K|PLCB4_uc021wal.1_Missense_Mutation_p.E1104K|PLCB4_uc002wnh.3_Missense_Mutation_p.E951K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	1104					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGCAGAACGGGAAAGGTAAGT	0.418000														68			32		0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131195771	131195771	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:131195771C>T	uc003vqw.4	-	1	780	c.522G>A	c.(520-522)aaG>aaA	p.K174K	PODXL_uc003vqx.4_Silent_p.K174K	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	174	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GATGTTCTGCCTTAGTGGATG	0.547000														189			46		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632215	122632215	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122632215C>T	uc003efz.1	-	16	2641	c.2337G>A	c.(2335-2337)tgG>tgA	p.W779*	SEMA5B_uc011bju.1_Nonsense_Mutation_p.W721*|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Nonsense_Mutation_p.W779*|SEMA5B_uc010hro.1_Nonsense_Mutation_p.W721*|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	779					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCCACGGCGTCCAGGGGGTGT	0.716000														9			4		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74640034	74640034	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:74640034T>A	uc002lmi.3	+	24	4758	c.4560T>A	c.(4558-4560)tcT>tcA	p.S1520S	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1520					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCTCGGGGTCTCCACAGGAAA	0.498000														48			6		0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914801	94914801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94914801C>T	uc001ydd.1	-	1	371	c.311G>A	c.(310-312)gGa>gAa	p.G104E		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	104					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GAGGTTGAATCCCAGGCCCTC	0.587000														90			41		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101765820	101765820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:101765820G>A	uc004azb.1	+	7	1357	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	384	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCCACCGGGGGACCAACCCTC	0.597000														54			37		0	0	1	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490495	141490495	+	Missense_Mutation	SNP	C	T	T	rs146440743		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141490495C>T	uc003vwr.1	+	0	479	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.	112					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					GACCTTCGATCGCCCGGCCTA	0.483000														87			7		0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70218880	70218880	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:70218880G>A	uc021pru.1	-	4	958	c.958C>T	c.(958-960)Cct>Tct	p.P320S	DNA2_uc021prt.1_Missense_Mutation_p.P320S|DNA2_uc001jog.2_Missense_Mutation_p.P234S|DNA2_uc001joh.2_Non-coding_Transcript	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA.	234					DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TGCATCTGAGGGAAGTCAGTC	0.348000														9			3		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62293078	62293078	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62293078A>G	uc001ntl.3	-	4	9111	c.8811T>C	c.(8809-8811)gtT>gtC	p.V2937V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2937					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCAATGTTAACATCAGGGC	0.517000														243			117		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610501	38610501	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38610501G>A	uc002ohk.3	+	8	3356	c.2847G>A	c.(2845-2847)agG>agA	p.R949R		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	949					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGACATAAGGGAGATAGTGC	0.532000														37			12		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450876	105450876	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:105450876C>T	uc022cca.1	+	0	1451	c.1451C>T	c.(1450-1452)tCt>tTt	p.S484F	MUM1L1_uc004emg.2_Missense_Mutation_p.S484F|MUM1L1_uc004emf.2_Missense_Mutation_p.S484F	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	484										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGTTGTGGTTCTTTCACGGGC	0.393000														26			14		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114120263	114120263	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:114120263C>T	uc003ibe.4	+	3	482	c.382C>T	c.(382-384)Cag>Tag	p.Q128*	ANK2_uc003ibd.4_Nonsense_Mutation_p.Q107*|ANK2_uc003ibf.4_Nonsense_Mutation_p.Q128*|ANK2_uc003ibc.2_Nonsense_Mutation_p.Q104*|ANK2_uc011cgb.1_Nonsense_Mutation_p.Q143*	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	128					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCACAGTCTCAGGTATTCCA	0.358000														52			19		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539571	56539571	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56539571C>T	uc002qmj.3	+	6	1972	c.1972C>T	c.(1972-1974)Ccc>Tcc	p.P658S	NLRP5_uc002qmi.3_Missense_Mutation_p.P639S	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	658						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGTCCCGTTCCCCTGGGGGT	0.587000														79			31		0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47685771	47685771	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47685771G>A	uc001cqx.2	-	3	1194	c.617C>T	c.(616-618)gCc>gTc	p.A206V	TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Missense_Mutation_p.A206V	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	206	Helix-loop-helix motif.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	p.G205G(1)		haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CTCGGCAAAGGCCCCGTTCAC	0.557000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									51			19		0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111096	55111096	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55111096C>T	uc010rie.2	+	0	420	c.420C>T	c.(418-420)atC>atT	p.I140I		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGGTTTGCATCCTTCTGTTGG	0.468000														122			59		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419850	10419850	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10419850G>A	uc002gmo.3	-	2	204	c.110C>T	c.(109-111)tCa>tTa	p.S37L	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	37	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACAAAGACTGATGTCTTGGC	0.522000														175			20		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140737029	140737029	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140737029C>T	uc003ljq.2	+	0	2262	c.2262C>T	c.(2260-2262)tcC>tcT	p.S754S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljs.2_5'Flank|PCDHGC5_uc003ljp.1_Silent_p.S754S|PCDHGC5_uc011dar.2_5'Flank	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	760					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D754D(1)		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)			AGACCTATTCCCACGAGGTCT	0.602000														123			27		0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53072390	53072390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53072390C>T	uc001sau.1	-	1	801	c.742G>A	c.(742-744)Gat>Aat	p.D248N	KRT1_uc001sav.1_Missense_Mutation_p.D248N	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	248	Coil 1B.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.D248N(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CGAGATTGATCACTCTTCAGT	0.473000														105			26		0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2132987	2132987	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:2132987G>A	uc003ger.2	-	14	1774	c.1762C>T	c.(1762-1764)Cag>Tag	p.Q588*	POLN_uc010icg.1_Nonsense_Mutation_p.Q36*|POLN_uc010ich.1_Nonsense_Mutation_p.Q120*	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	588					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GTAGTAATCTGAATTGGGTGC	0.343000								DNA polymerases (catalytic subunits)						95			8		0	0	1	0	0
ZNF8	7554	broad.mit.edu	37	19	58805887	58805887	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58805887C>T	uc002qry.1	+	3	843	c.713C>T	c.(712-714)tCc>tTc	p.S238F	ZNF8_uc002qrz.3_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	Homo sapiens zinc finger protein 8 (ZNF8), mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CACAGAGATTCCAGTCAGGCC	0.478000														59			15		0	0	1	0	0
TIFAB	497189	broad.mit.edu	37	5	134785468	134785469	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:134785468_134785469GG>AA	uc003law.4	-	1	362_363	c.161_162CC>TT	c.(160-162)tcc>tTT	p.S54F	C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Missense_Mutation_p.S54F	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.	54	FHA.									breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGACGGCGGGAGAGGCGAGG	0.658000														64			6		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27746305	27746305	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27746305G>A	uc002rky.3	+	18	1943	c.1877G>A	c.(1876-1878)tGa>tAa	p.*626*	GCKR_uc010ezd.3_Silent_p.*624*|GCKR_uc010ylu.2_Silent_p.*436*	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	0					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GACGTTCAGTGAACCCATGTT	0.612000														45			16		0	0	1	0	0
MS4A6A	64231	broad.mit.edu	37	11	59940507	59940507	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59940507G>A	uc010rla.2	-	6	1202	c.729C>T	c.(727-729)ttC>ttT	p.F243F	MS4A6A_uc001noq.3_3'UTR|MS4A6A_uc009ymv.3_Silent_p.F215F|MS4A6A_uc001not.3_Silent_p.F215F|MS4A6A_uc010rlb.2_Silent_p.F170F	NM_001247999	NP_001234928	Q9H2W1	M4A6A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA.	215						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCACCCCAGGGAAGTCAGAGT	0.507000														165			31		0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120169044	120169044	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:120169044G>A	uc021qrk.1	+	3	243	c.209G>A	c.(208-210)gGa>gAa	p.G70E	POU2F3_uc001pxc.3_Missense_Mutation_p.G68E|POU2F3_uc010rzk.2_Silent_p.R6R|POU2F3_uc010rzl.2_5'UTR	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	68					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CTGAGTCAAGGACCTGCCATG	0.522000														161			105		0	0	1	0	0
C3orf25	90288	broad.mit.edu	37	3	129123150	129123150	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:129123150G>A	uc003emg.3	-	6	1509	c.1346C>T	c.(1345-1347)tCt>tTt	p.S449F		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						CAGATTCGGAGAAAAGACCTT	0.572000														90			34		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124210210	124210210	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124210210C>T	uc003ehg.3	+	30	4749	c.4622C>T	c.(4621-4623)cCc>cTc	p.P1541L	KALRN_uc010hrv.1_Missense_Mutation_p.P1532L|KALRN_uc003ehf.1_Missense_Mutation_p.P1541L|KALRN_uc011bjy.1_Missense_Mutation_p.P1532L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1541	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAGGGCGATCCCTGCAAATTC	0.562000														46			16		0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89854527	89854527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:89854527C>T	uc010len.3	+	2	637	c.131C>T	c.(130-132)tCc>tTc	p.S44F	STEAP2_uc003ujy.2_Missense_Mutation_p.S86F|STEAP2_uc003uka.3_Missense_Mutation_p.S44F|STEAP2_uc003ujz.3_Missense_Mutation_p.S44F|STEAP2_uc003ukc.3_Missense_Mutation_p.S44F|STEAP2_uc003ukb.3_Missense_Mutation_p.S44F|STEAP2_uc003ukd.3_Missense_Mutation_p.S44F	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	44					Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTTGCCAAATCCTTGACCATT	0.388000														93			44		0	0	1	0	0
C3orf25	90288	broad.mit.edu	37	3	129137225	129137225	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:129137225G>A	uc003emg.3	-	2	716	c.553C>T	c.(553-555)Cct>Tct	p.P185S		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						GACAGGGCAGGGGGCTCGGGC	0.602000														30			11		0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157737078	157737078	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157737078C>T	uc001fre.2	-	5	1164	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	FCRL2_uc001frd.2_Missense_Mutation_p.E116K|FCRL2_uc010phz.1_Missense_Mutation_p.E369K|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	369	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTGTTGGCCTCACAGGAGTAG	0.567000														129			30		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72022776	72022776	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:72022776G>A	uc001swo.2	-	19	4227	c.3868C>T	c.(3868-3870)Cca>Tca	p.P1290S		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	1290					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAAAACTTTGGCTTCCACTTT	0.308000														42			10		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118375153	118375153	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118375153C>A	uc001pta.3	+	26	8560	c.8537C>A	c.(8536-8538)cCt>cAt	p.P2846H	MLL_uc001ptb.3_Missense_Mutation_p.P2849H	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2846					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AATATCCTGCCTTCAGACATT	0.428000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									150			46		1.06522e-23	1.07156e-23	1	1	0
C1orf127	148345	broad.mit.edu	37	1	11008269	11008269	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11008269C>T	uc010oao.2	-	11	1923	c.1923G>A	c.(1921-1923)atG>atA	p.M641I	C1orf127_uc001ars.2_Missense_Mutation_p.M476I|C1orf127_uc001arr.2_Missense_Mutation_p.M484I	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	492										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ATGAAAGGTCCATGTGCCCCC	0.647000														92			8		0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23600749	23600749	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23600749G>A	uc001wiz.3	-	7	1760	c.1034C>T	c.(1033-1035)gCc>gTc	p.A345V	SLC7A8_uc001wiw.3_5'Flank|SLC7A8_uc001wix.3_Missense_Mutation_p.A142V|SLC7A8_uc010tnk.2_Missense_Mutation_p.A121V|SLC7A8_uc010tnl.2_Missense_Mutation_p.A240V|SLC7A8_uc001wiy.3_Non-coding_Transcript|SLC7A8_uc010akj.3_Intron	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	345					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GCCCTCTCGGGCTCCAGCGAA	0.602000														35			10		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087296	39087296	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:39087296C>T	uc011aej.1	-	2	217	c.164G>A	c.(163-165)aGg>aAg	p.R55K	KCNJ6_uc002ywo.2_Missense_Mutation_p.R55K	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	55					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CCTCACGTACCTCTGGATTTT	0.522000														121			35		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72085567	72085567	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:72085567C>T	uc001xms.3	+	2	1953	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	SIPA1L1_uc001xmt.3_Missense_Mutation_p.S531F|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S531F|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S531F|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S6F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	531					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAAAATGGATCTCCGTACAAC	0.403000														79			28		0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045040	55045040	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55045040C>T	uc010yfa.1	+	2		c.266C>T			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.									p.R54W(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TTCCCATCTTCGGTTTGTCAT	0.537000														29			13		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71490409	71490409	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:71490409C>T	uc003kbw.4	+	4	1468	c.1227C>T	c.(1225-1227)gtC>gtT	p.V409V	MAP1B_uc010iyw.1_Silent_p.V426V|MAP1B_uc010iyx.1_Silent_p.V283V|MAP1B_uc010iyy.1_Silent_p.V283V	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	409						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TTGATCCTGTCATTCTTTTCC	0.403000														104			26		0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25150165	25150165	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:25150165G>A	uc003abd.1	-	7	1210	c.793C>T	c.(793-795)Ctt>Ttt	p.L265F	PIWIL3_uc011ajx.1_Missense_Mutation_p.L156F|PIWIL3_uc010gut.1_Missense_Mutation_p.L265F|PIWIL3_uc011ajy.1_Missense_Mutation_p.L156F	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	265					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACATAACCAAGCCAGATTTCC	0.403000														65			15		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784037	9784037	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:9784037C>T	uc003gmb.4	+	0	780	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	128					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.I128T(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTGCCTCCATCCTGAACCTGT	0.622000														40			6		0	0	1	0	0
LOC344967	344967	broad.mit.edu	37	4	40045360	40045360	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:40045360G>A	uc011byr.1	-	2	790	c.296C>T	c.(295-297)cCt>cTt	p.P99L						Homo sapiens acyl-CoA thioesterase 7 pseudogene (LOC344967), non-coding RNA.																		CACAACAGGAGGCTCTTCGAG	0.577000														17			12		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67129918	67129918	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:67129918G>A	uc002jhw.1	-	5	830	c.655C>T	c.(655-657)Cac>Tac	p.H219Y		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	219					transport	integral to membrane	ATP binding|ATPase activity	p.L218F(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCATTGTGAAGAAGATTT	0.313000														67			10		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21747441	21747441	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:21747441G>A	uc003svc.3	+	40	6723	c.6692G>A	c.(6691-6693)tGg>tAg	p.W2231*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2231	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACCCGAGAATGGAAAGATGGC	0.378000									Kartagener syndrome					44			4		0	0	1	0	0
FAIM3	9214	broad.mit.edu	37	1	207095173	207095173	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207095173G>A	uc001hey.3	-	0	206	c.27C>T	c.(25-27)taC>taT	p.Y9Y	FAIM3_uc010prz.2_Silent_p.Y9Y|FAIM3_uc021pif.1_Silent_p.Y9Y|FAIM3_uc010psa.2_5'UTR	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA.	9					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					CTGGCAGGAAGTAAAGTGGCC	0.507000														52			26		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30749771	30749772	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30749771_30749772CC>TT	uc002dze.1	+	33	8795_8796	c.8410_8411CC>TT	c.(8410-8412)ccc>TTc	p.P2804F	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P2599F	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2804	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)			ATCCTCCCCTCCCATTGGTGGG	0.644000														102			7		0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179193008	179193008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:179193008C>T	uc003mkm.3	+	1	1260	c.997C>T	c.(997-999)Cct>Tct	p.P333S	MAML1_uc003mkn.1_Missense_Mutation_p.P333S	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	333					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCTCTGCCCCTGTGAGTAC	0.602000														41			20		0	0	1	0	0
ZNF138	7697	broad.mit.edu	37	7	64292248	64292248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:64292248C>T	uc011kdq.2	+	2	726	c.550C>T	c.(550-552)Ctt>Ttt	p.L184F	ZNF138_uc003ttg.3_Missense_Mutation_p.L153F|ZNF138_uc003tth.3_Non-coding_Transcript|ZNF138_uc010kzs.3_Missense_Mutation_p.L178F|ZNF138_uc011kdp.2_3'UTR	NM_006524	NP_006515	B4DP87	B4DP87_HUMAN	Homo sapiens zinc finger protein 138 (ZNF138), transcript variant 1, mRNA.	184					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				GTCCACAAACCTTTCTAAACC	0.343000														40			15		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834561	101834561	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:101834561C>T	uc001pgm.3	+	5	3065	c.2795C>T	c.(2794-2796)cCc>cTc	p.P932L	KIAA1377_uc001pgn.3_Missense_Mutation_p.P888L|KIAA1377_uc010run.2_Missense_Mutation_p.P733L|KIAA1377_uc009yxa.1_Missense_Mutation_p.P733L	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	932							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAATCAGTTCCCTTATGGAAA	0.378000														114			49		0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1243834	1243835	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1243834_1243835GG>AA	uc003jby.2	+	8	1419_1420	c.1296_1297GG>AA	c.(1294-1299)gtgggg>gtAAgg	p.G433R		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	433					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.V434fs*11(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGCTGGACGTGGGGGTCCTGCC	0.653000														52			8		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115406706	115406706	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115406706C>T	uc001lal.3	-	9	1133	c.969G>A	c.(967-969)aaG>aaA	p.K323K	NRAP_uc001laj.3_Silent_p.K323K|NRAP_uc001lak.3_Silent_p.K323K	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	323						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CGTGAGCTTTCTTGGCGTTCT	0.522000														86			34		0	0	1	0	0
PLAU	5328	broad.mit.edu	37	10	75673453	75673453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:75673453C>T	uc001jwa.3	+	6	763	c.617C>T	c.(616-618)aCc>aTc	p.T206I	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Missense_Mutation_p.T189I|PLAU_uc010qkx.2_Missense_Mutation_p.T120I|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Missense_Mutation_p.T206I|PLAU_uc009xrq.1_Missense_Mutation_p.T170I	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	206	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	GGCTCTGTCACCTACGTGTGT	0.592000														98			32		0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236653459	236653459	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:236653459C>T	uc002vvs.3	+	4	1112	c.514C>T	c.(514-516)Cct>Tct	p.P172S	AGAP1_uc002vvt.3_Missense_Mutation_p.P172S|AGAP1_uc021vyp.1_Missense_Mutation_p.P172S	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	172	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GAGCGAGATTCCTCTGGTTCT	0.433000														52			19		0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93106913	93106913	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:93106913G>A	uc003umv.2	-	5	627	c.327C>T	c.(325-327)tcC>tcT	p.S109S	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Silent_p.S91S|CALCR_uc003umw.2_Silent_p.S91S	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	91					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.S91S(1)|p.S109S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	AGAACTGATAGGACAATACTC	0.423000														45			15		0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810929	65810929	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65810929G>A	uc001ogv.3	-	1	505	c.345C>T	c.(343-345)ttC>ttT	p.F115F	GAL3ST3_uc001ogw.3_Silent_p.F115F	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	115					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						CCGGGTGCACGAAGTGCGCCG	0.692000														30			4		0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189996	124189996	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124189996C>T	uc010sah.2	-	0	98	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		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;0.0525)		CACATATATTCCAAGGAACAG	0.463000														113			33		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600150	141600150	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:141600150C>T	uc010ioj.3	-	4	1069	c.797G>A	c.(796-798)cGa>cAa	p.R266Q		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	266						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GGGCAGGGATCGATCTTGTTC	0.418000														150			71		0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75533671	75533671	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:75533671C>T	uc004ajd.3	-	7	1132	c.815G>A	c.(814-816)gGa>gAa	p.G272E	ALDH1A1_uc011lsh.2_Missense_Mutation_p.G193E|ALDH1A1_uc011lsg.2_Missense_Mutation_p.G98E	NM_000689	NP_000680	P00352	AL1A1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	272					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	Ras GTPase activator activity|aldehyde dehydrogenase (NAD) activity|androgen binding|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	AGGGCTCTTTCCTCCAAGCTC	0.463000														91			16		0	0	1	0	0
LOC441601	441601	broad.mit.edu	37	11	50246855	50246855	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:50246855C>T	uc001nhd.3	-	3		c.620G>A								Homo sapiens septin 7 pseudogene (LOC441601), non-coding RNA.																		TGTTGGCATTCCTCTGGTGTG	0.358000														9			3		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56089453	56089453	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:56089453G>A	uc010qhy.1	-	7	1018	c.623C>T	c.(622-624)aCc>aTc	p.T208I	PCDH15_uc010qhq.2_Missense_Mutation_p.T208I|PCDH15_uc010qhr.2_Missense_Mutation_p.T203I|PCDH15_uc021pqv.1_Missense_Mutation_p.T203I|PCDH15_uc021pqw.1_Missense_Mutation_p.T208I|PCDH15_uc010qht.2_Missense_Mutation_p.T203I|PCDH15_uc021pqx.1_Missense_Mutation_p.T203I|PCDH15_uc001jjv.1_Missense_Mutation_p.T181I|PCDH15_uc021pqy.1_Missense_Mutation_p.T203I|PCDH15_uc021pqz.1_Missense_Mutation_p.T181I|PCDH15_uc010qhv.1_Missense_Mutation_p.T203I|PCDH15_uc010qhw.1_Intron|PCDH15_uc010qhx.1_Missense_Mutation_p.T203I|PCDH15_uc010qhz.1_Missense_Mutation_p.T203I|PCDH15_uc010qia.1_Missense_Mutation_p.T181I|PCDH15_uc001jju.1_Missense_Mutation_p.T203I|PCDH15_uc010qib.1_Missense_Mutation_p.T181I|PCDH15_uc001jjw.3_Missense_Mutation_p.T203I	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	203	Cadherin 2.				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)				AATTTCAAAGGTGTCATTGGA	0.328000										HNSCC(58;0.16)				135			64		0	0	1	0	0
CHST6	4166	broad.mit.edu	37	16	75513171	75513171	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:75513171G>A	uc021tlj.1	-	0	556	c.556C>T	c.(556-558)Ccg>Tcg	p.P186S	CHST6_uc002fef.3_Missense_Mutation_p.P186S|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Missense_Mutation_p.P186S	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.	186					N-acetylglucosamine metabolic process|keratan sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTGAGCAGCGGGTAGAGCACC	0.701000														66			21		0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026719	182026719	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:182026719C>T	uc001goz.3	-	1	635	c.427G>A	c.(427-429)Gac>Aac	p.D143N	ZNF648_uc021pfu.1_Missense_Mutation_p.D143N	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGTAGTCGGTCCCCAAGAGGT	0.572000														65			25		0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179306689	179306689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:179306689G>A	uc003mlh.3	-	7	1390	c.1355C>T	c.(1354-1356)tCc>tTc	p.S452F	TBC1D9B_uc003mli.3_Missense_Mutation_p.S452F|TBC1D9B_uc003mlj.3_Missense_Mutation_p.S452F	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	452						integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGCCCTGGGATGCGGTTGG	0.672000														97			49		0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986446	51986446	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51986446C>T	uc002pwv.1	+	4	1032	c.1032C>T	c.(1030-1032)ctC>ctT	p.L344L		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	344	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGATGAACCTCTCGAGTCTTG	0.532000														112			37		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140780001	140780001	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140780001G>A	uc003lkf.2	+	0	2307	c.2307G>A	c.(2305-2307)ttG>ttA	p.L769L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.L769L|PCDHGC5_uc011dax.2_5'Flank|PCDHGC5_uc003lkh.2_5'Flank	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	781					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)			GTGAGCAATTGAGTTCAGGAC	0.438000														305			34		0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66112422	66112422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:66112422G>A	uc011dxu.1	-	6	1671	c.1133C>T	c.(1132-1134)cCt>cTt	p.P378L	EYS_uc003peq.3_Missense_Mutation_p.P378L|EYS_uc003per.1_Missense_Mutation_p.P378L|EYS_uc021zbn.1_Missense_Mutation_p.P378L	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	378	EGF-like 5.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTCCTCAAAGGAAATGACTC	0.279000														95			13		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189025997	189025997	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:189025997C>T	uc011cle.1	-	1	501	c.279G>A	c.(277-279)atG>atA	p.M93I	TRIML2_uc003izl.2_Missense_Mutation_p.M43I|TRIML2_uc011clf.1_Missense_Mutation_p.M93I	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	43							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)		TGACCTGAATCATCGCCATTC	0.358000														103			35		0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112998264	112998264	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:112998264C>T	uc003dzx.3	+	11	2603	c.1982C>T	c.(1981-1983)cCa>cTa	p.P661L	BOC_uc003dzy.3_Missense_Mutation_p.P661L|BOC_uc003dzz.3_Missense_Mutation_p.P662L|BOC_uc003eab.3_Missense_Mutation_p.P362L|BOC_uc003eac.3_5'Flank	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	661	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCCATCCCCCCATCGCGGCTG	0.627000														55			12		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12661513	12661513	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:12661513G>A	uc002gno.2	+	11	2613	c.2314G>A	c.(2314-2316)Gaa>Aaa	p.E772K	MYOCD_uc002gnn.2_Missense_Mutation_p.E724K|MYOCD_uc002gnp.1_Missense_Mutation_p.E676K|MYOCD_uc002gnq.2_Intron	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	724					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCCATCCTATGAAGATGCCGT	0.393000														36			21		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68934353	68934353	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:68934353G>A	uc003xxv.1	+	3	446	c.419G>A	c.(418-420)aGa>aAa	p.R140K	PREX2_uc003xxu.1_Missense_Mutation_p.R140K|PREX2_uc011lez.1_Missense_Mutation_p.R75K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	140	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.I139V(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AACAAAATAAGAACAATCCGG	0.328000														52			5		0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123664511	123664511	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:123664511C>T	uc021xrm.1	+	2	1845	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	BBS12_uc003ieu.3_Silent_p.I488I|BBS12_uc021xrn.1_Silent_p.I488I	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	488					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						ACAACAGAATCGCAATCTTAT	0.438000									Bardet-Biedl syndrome					88			15		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130312089	130312089	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130312089G>A	uc010htl.3	+	15	4494	c.4463G>A	c.(4462-4464)gGa>gAa	p.G1488E	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1488	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGAGATGAGGGATCTCAGGTA	0.363000														54			15		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857019	210857019	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:210857019C>T	uc001hib.2	-	10	2744	c.2574G>A	c.(2572-2574)tcG>tcA	p.S858S	KCNH1_uc001hic.2_Silent_p.S831S	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	858					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTGTCTCCATCGACTCAGCCT	0.592000														109			36		0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7794920	7794920	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7794920C>T	uc002mhp.4	-	6	681	c.612G>A	c.(610-612)ggG>ggA	p.G204G	CLEC4G_uc021uny.1_Silent_p.G192G	NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	Homo sapiens C-type lectin domain family 4, member G (CLEC4G), transcript variant 1, mRNA.	204	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CATCCAGGCCCCCAACGATCA	0.677000														10			6		0	0	1	0	0
PLAUR	5329	broad.mit.edu	37	19	44171764	44171764	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44171764G>A	uc002oxf.2	-	1	361	c.135C>T	c.(133-135)ctC>ctT	p.L45L	PLAUR_uc002oxd.2_Silent_p.L45L|PLAUR_uc002oxg.2_Silent_p.L45L	NM_002659	NP_002650	Q03405	UPAR_HUMAN	Homo sapiens plasminogen activator, urokinase receptor (PLAUR), transcript variant 1, mRNA.	45	UPAR/Ly6 1.				C-terminal protein lipidation|attachment of GPI anchor to protein|blood coagulation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	U-plasminogen activator receptor activity|enzyme binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	TGGTCCTGCAGAGGTCCTGTC	0.622000														50			20		0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4247875	4247875	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:4247875G>A	uc002cvz.4	-	3	314	c.301C>T	c.(301-303)Ccg>Tcg	p.P101S	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	560	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						ACACTCCACGGTCCCAGGAAC	0.423000														45			27		0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37602897	37602897	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37602897G>A	uc003ara.3	-	1	1008	c.946C>T	c.(946-948)Ctc>Ttc	p.L316F	SSTR3_uc003arb.3_Missense_Mutation_p.L316F|SSTR3_uc021wos.1_Missense_Mutation_p.L316F	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	316					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CGGTAGGAGAGGAAGCCATAA	0.657000														75			29		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9333729	9333729	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:9333729C>T	uc001qvl.3	-	15	1719	c.1690_splice	c.e15-1	p.V564_splice	PZP_uc009zgl.3_Splice_Site_p.V433_splice	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCAAATCCACCTGTGGGAAAT	0.522000														38			6		0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92401568	92401568	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:92401568G>A	uc003yez.3	+	15	1917	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	SLC26A7_uc003yex.3_Missense_Mutation_p.E560K|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.E560K	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	560	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.E560D(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCCTACAGAAGAAGCTTCACA	0.438000														173			86		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623364	100623364	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:100623364G>A	uc002taf.3	-	5	822	c.678C>T	c.(676-678)gcC>gcT	p.A226A	AFF3_uc002tag.3_Silent_p.A201A|AFF3_uc010fiq.1_Silent_p.A201A|AFF3_uc010yvr.1_Silent_p.A355A|AFF3_uc002tah.1_Silent_p.A226A|AFF3_uc010fir.1_Silent_p.A278A	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	201					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGGCCGCCATGGCAGGTGGCC	0.587000														85			37		0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81610660	81610660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:81610660G>A	uc001xvd.1	+	9	2414	c.2258G>A	c.(2257-2259)gGc>gAc	p.G753D		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	753					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	AAGAAGCAAGGCCAAATCTCA	0.403000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							99			34		0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220792011	220792011	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:220792011C>T	uc009xdw.3	+	8	1420	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	MARK1_uc001hmn.4_Missense_Mutation_p.R275C|MARK1_uc010pun.2_Missense_Mutation_p.R275C|MARK1_uc001hmm.4_Missense_Mutation_p.R253C	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	275	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGGGAAGTACCGTATTCCCTT	0.353000														109			10		0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141619380	141619380	+	Silent	SNP	G	A	A	rs143629932		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141619380G>A	uc003vwu.1	+	0	705	c.705G>A	c.(703-705)agG>agA	p.R235R		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R235R(2)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CTGGCCGGAGGAAATCCTTCT	0.502000														105			45		0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119228486	119228486	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:119228486G>A	uc001pwm.4	-	9	1777	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	USP2_uc001pwl.4_Silent_p.F285F|USP2_uc001pwn.4_Silent_p.F251F	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	494	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGATCTTTGGGAACCTCTGGA	0.498000														402			167		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134125725	134125725	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:134125725G>A	uc003ytw.3	+	43	7673	c.7632G>A	c.(7630-7632)caG>caA	p.Q2544Q	TG_uc010mdw.3_Silent_p.Q1303Q|TG_uc011ljb.2_Silent_p.Q913Q|TG_uc011ljc.2_Silent_p.Q677Q	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2544					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGCACTGCAGAATTCTCTGG	0.498000														75			24		0	0	1	0	0
DQ584039	0	broad.mit.edu	37	15	28857226	28857226	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:28857226C>T	uc010ual.1	+	0		c.20C>T								Homo sapiens piRNA piR-51151, complete sequence.																		AAGAGATGGGCTCTGTGGTCT	0.418000														20			22		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915289	119915289	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:119915289G>A	uc003vjj.1	+	0	1568	c.603G>A	c.(601-603)gcG>gcA	p.A201A		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	201					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)					CTGTCATCGCGAATGTGGTGG	0.572000														68			8		0	0	1	0	0
TRIM63	84676	broad.mit.edu	37	1	26393830	26393830	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26393830G>A	uc001bli.1	-	0	292	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	Homo sapiens tripartite motif containing 63 (TRIM63), mRNA.	52						cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|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;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CACTTACCTGGAAGATGTCAT	0.557000														27			12		0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	780476	780476	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:780476C>T	uc010krz.1	+	2	821	c.801C>T	c.(799-801)tcC>tcT	p.S267S	HEATR2_uc003siz.2_Silent_p.S135S	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	267							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CGGTGGCCTCCGTGGTGGGCG	0.642000														194			46		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2229538	2229538	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2229538C>T	uc009zdu.1	+	2	732	c.419C>T	c.(418-420)gCc>gTc	p.A140V	CACNA1C_uc001qkc.2_Missense_Mutation_p.A140V|CACNA1C_uc001qjz.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkd.2_Missense_Mutation_p.A140V|CACNA1C_uc001qke.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkf.2_Missense_Mutation_p.A140V|CACNA1C_uc009zdw.1_Missense_Mutation_p.A140V|CACNA1C_uc001qkg.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkh.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkl.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkj.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkk.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkn.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkm.2_Missense_Mutation_p.A140V|CACNA1C_uc001qko.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkp.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkq.2_Missense_Mutation_p.A140V|CACNA1C_uc001qku.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkr.2_Missense_Mutation_p.A140V|CACNA1C_uc001qks.2_Missense_Mutation_p.A140V|CACNA1C_uc001qkt.2_Missense_Mutation_p.A140V|CACNA1C_uc009zdv.1_Missense_Mutation_p.A140V|CACNA1C_uc001qkb.2_Missense_Mutation_p.A140V|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc009zdx.1_Non-coding_Transcript	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	140					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AATTGTGTGGCCTTAGCGATC	0.403000														115			29		0	0	1	0	0
FERMT2	10979	broad.mit.edu	37	14	53326422	53326422	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:53326422C>T	uc001xac.3	-	14	1945	c.1759G>A	c.(1759-1761)Ggc>Agc	p.G587S	FERMT2_uc001xad.3_Missense_Mutation_p.G580S|FERMT2_uc001xae.3_Missense_Mutation_p.G580S|FERMT2_uc001xaf.3_Missense_Mutation_p.G587S	NM_001134999	NP_001128471	Q96AC1	FERM2_HUMAN	Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA.	580	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TCTTTTTTGCCCCCTTGGAAC	0.398000														27			7		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47405400	47405400	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:47405400C>T	uc002leb.2	-	23	3479	c.3191G>A	c.(3190-3192)cGa>cAa	p.R1064Q	MYO5B_uc002lea.2_Missense_Mutation_p.R205Q	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1064					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GTACCGGGATCGCTCCTCCTC	0.468000														60			23		0	0	1	0	0
AK058136	0	broad.mit.edu	37	4	110268668	110268668	+	RNA	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:110268668C>A	uc003hzi.1	-	7		c.1396G>T								Homo sapiens cDNA FLJ25407 fis, clone TST02904.																		ATTCAAGCTCCAACGAGCTTG	0.527000														25			11		6.40141e-05	6.41135e-05	1	1	0
MYO5B	4645	broad.mit.edu	37	18	47463690	47463690	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:47463690C>T	uc002leb.2	-	14	2118	c.1830G>A	c.(1828-1830)tcG>tcA	p.S610S	MYO5B_uc021ukb.1_Silent_p.S609S	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	610	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CGCTGATCTTCGAAGATGACC	0.532000														72			25		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121414256	121414256	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121414256G>A	uc001pxx.3	+	13	1815	c.1686_splice	c.e13-1	p.K562_splice		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	562					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CATTTGGGCAGATACAGTACC	0.473000														93			32		0	0	1	0	0
C2orf89	129293	broad.mit.edu	37	2	85097546	85097546	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:85097546C>T	uc010ysl.2	-	1	561	c.472G>A	c.(472-474)Gga>Aga	p.G158R	C2orf89_uc002sou.4_Missense_Mutation_p.G158R|C2orf89_uc010fgc.2_Missense_Mutation_p.G158R	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	158						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						TCCCAGTTTCCGGCAATAGCA	0.562000														98			26		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506753	37506753	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:37506753G>A	uc021ppc.1	+	32	3145	c.3046G>A	c.(3046-3048)Gct>Act	p.A1016T	ANKRD30A_uc001iza.1_Missense_Mutation_p.A1016T	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1072						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACTTGAACAGGCTCTCAGAAT	0.289000														54			11		0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17405782	17405782	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17405782G>A	uc001baf.3	-	10	1369	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	PADI2_uc010ocm.2_Silent_p.I313I|PADI2_uc001bag.1_Silent_p.I429I	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	429					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TCCCGATGAGGATGCGGCCAA	0.582000														51			14		0	0	1	0	0
FNDC4	64838	broad.mit.edu	37	2	27715556	27715556	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27715556C>T	uc002rkx.3	-	5	1052	c.646G>A	c.(646-648)Gga>Aga	p.G216R	IFT172_uc002rku.3_5'Flank|IFT172_uc002rkv.3_5'Flank|IFT172_uc010yls.2_5'Flank|IFT172_uc010ezc.3_5'Flank|IFT172_uc010ylt.1_5'Flank	NM_022823	NP_073734	Q9H6D8	FNDC4_HUMAN	Homo sapiens fibronectin type III domain containing 4 (FNDC4), mRNA.	216						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					ACTGGCCTTCCCTGAGGACTC	0.557000														144			35		0	0	1	0	0
MSANTD2	79684	broad.mit.edu	37	11	124637184	124637184	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124637184G>A	uc001qba.1	-	3	1591	c.1568C>T	c.(1567-1569)cCc>cTc	p.P523L	MSANTD2_uc001qaz.1_Missense_Mutation_p.P471L|MSANTD2_uc010sap.1_Missense_Mutation_p.P243L|MSANTD2_uc001qay.1_Missense_Mutation_p.P293L	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN	Homo sapiens chromosome 11 open reading frame 61 (C11orf61), mRNA.	523																	GATGGATTTGGGGGAAACTCC	0.408000														105			45		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8610561	8610561	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8610561G>A	uc002mkg.3	-	12	1467	c.1329C>T	c.(1327-1329)gtC>gtT	p.V443V		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	443	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGTCACAGACGACCTTGTTGT	0.572000														321			71		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61465948	61465948	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61465948G>A	uc002ljl.3	+	5	661	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	SERPINB7_uc002ljm.3_Missense_Mutation_p.E189K|SERPINB7_uc010xet.2_Missense_Mutation_p.E172K|SERPINB7_uc010dqg.3_Missense_Mutation_p.E189K	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	189					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CACCAAGAGCGAAACCATAAA	0.423000														85			40		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54893190	54893190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54893190G>A	uc001sgc.4	+	1	233	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.E2K	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	52					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AAAGTCCATGGAACCATCTCT	0.418000														91			42		0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61886222	61886222	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61886222C>T	uc002jbu.3	+	10	1323	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*	DDX42_uc002jbv.3_Nonsense_Mutation_p.R356*|DDX42_uc002jbw.1_Nonsense_Mutation_p.R92*|DDX42_uc002jbx.3_Nonsense_Mutation_p.R92*|DDX42_uc002jby.3_5'Flank	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	356	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						ATATAATCTTCGATCAGTGGC	0.443000														119			29		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27745364	27745364	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27745364G>A	uc002rky.3	+	17	1676	c.1610G>A	c.(1609-1611)aGc>aAc	p.S537N	GCKR_uc010ezd.3_Missense_Mutation_p.S535N|GCKR_uc010ylu.2_Missense_Mutation_p.S347N	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	537					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TGCATCGAGAGCCTCCTCCGA	0.527000														85			23		0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947971	145947971	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145947971G>A	uc003zdv.4	-	4	1330	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		AGCTTCGACTGAAGGCCTTCC	0.507000														72			22		0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50144242	50144242	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:50144242C>T	uc003cyg.3	+	10	1073	c.898C>T	c.(898-900)Cct>Tct	p.P300S	RBM5_uc011bdj.2_Missense_Mutation_p.P244S|RBM5_uc011bdk.2_Missense_Mutation_p.P128S	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	300	RRM 2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTCCATCCTCCTTTGAAAAT	0.388000														74			33		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141598235	141598235	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:141598235T>A	uc010ioj.3	-	5	1144	c.872A>T	c.(871-873)aAg>aTg	p.K291M		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	291						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TCTCTCACTCTTTGCCCTGGC	0.423000														95			46		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534823	55534823	+	Silent	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55534823A>T	uc003xsd.1	+	2	910	c.762A>T	c.(760-762)ggA>ggT	p.G254G	RP1_uc011ldy.1_Silent_p.G254G	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	254					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.G254*(1)|p.G254E(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCCCAAGGGAAATGCAAAGT	0.413000														63			23		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321602	56321602	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56321602G>A	uc010ygf.2	-	4	1085	c.374C>T	c.(373-375)tCg>tTg	p.S125L	NLRP11_uc002qlz.3_Missense_Mutation_p.S26L|NLRP11_uc002qmb.3_Missense_Mutation_p.S26L|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	125							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CACATCTGACGAAACGTCACG	0.383000														46			23		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76556101	76556101	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:76556101C>T	uc002fex.1	+	15	2850	c.2711C>T	c.(2710-2712)cCc>cTc	p.P904L	CNTNAP4_uc002feu.1_Missense_Mutation_p.P900L|CNTNAP4_uc002fev.1_Missense_Mutation_p.P765L|CNTNAP4_uc010chb.1_Missense_Mutation_p.P828L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	901	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AAGACACAGCCCGCCCCCGCT	0.493000														75			8		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230902211	230902211	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:230902211G>A	uc002vqd.2	-	4	1877	c.1418C>T	c.(1417-1419)tCc>tTc	p.S473F	FBXO36_uc010fxi.1_Intron	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	473						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TATGTAGAAGGAAAAATCATA	0.323000														47			20		0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64136112	64136112	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:64136112G>A	uc001jmc.2	+	1	475	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	ZNF365_uc001jly.4_Missense_Mutation_p.E69K|ZNF365_uc001jmb.4_Missense_Mutation_p.E54K|ZNF365_uc001jlz.4_Missense_Mutation_p.E54K|ZNF365_uc001jma.4_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCACAGCTACGAAGAAAGAAC	0.498000														31			8		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065523	35065523	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35065523G>A	uc003jjm.3	-	9	2096	c.1537C>T	c.(1537-1539)Cac>Tac	p.H513Y	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.H412Y|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	513					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.H513Y(2)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTGACCTTGTGAATCTCCACA	0.502000														90			46		0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86123537	86123537	+	Missense_Mutation	SNP	G	A	A	rs148008941	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:86123537G>A	uc001pbx.2	+	10	1755	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	CCDC81_uc001pbw.2_Missense_Mutation_p.E353K|CCDC81_uc010rtq.2_Missense_Mutation_p.E226K|CCDC81_uc001pby.2_Missense_Mutation_p.E178K	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	443										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ACAGGAAAACGAAATAAAGCA	0.453000														65			36		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75969356	75969356	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:75969356C>T	uc003kek.3	+	24	3373	c.3151C>T	c.(3151-3153)Ctg>Ttg	p.L1051L	IQGAP2_uc011csv.2_Silent_p.L547L|IQGAP2_uc003kel.3_Silent_p.L547L|IQGAP2_uc010izw.1_5'Flank	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1051	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CATTGAGAACCTGAGAAGGGT	0.418000														117			10		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31587038	31587038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:31587038C>T	uc002rnv.1	-	23	2696	c.2617G>A	c.(2617-2619)Gat>Aat	p.D873N		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	873					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGAGAGAGATCCTGGGTGTTC	0.572000														51			17		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877827	130877827	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:130877827C>T	uc010fmh.2	-	2	662	c.262G>A	c.(262-264)Gac>Aac	p.D88N		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	88						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ATAGCAGAGTCGTCGTGGTCT	0.617000														371			21		0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060098	16060099	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16060098_16060099CC>TT	uc010xov.2	+	0	281_282	c.281_282CC>TT	c.(280-282)acc>aTT	p.T94I		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CATTCCATCACCTTTGTGGCTT	0.510000														303			95		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186545156	186545156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:186545156G>A	uc003iyg.3	-	12	1789	c.1757C>T	c.(1756-1758)tCc>tTc	p.S586F	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.S572F|SORBS2_uc003iyl.3_Missense_Mutation_p.S472F|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.S376F|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	472						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGACTTCACGGAGCAGATCAC	0.607000														83			32		0	0	1	0	0
SSX3	10214	broad.mit.edu	37	X	48206962	48206962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:48206962C>T	uc004djd.1	-	6	638	c.544G>A	c.(544-546)Gat>Aat	p.D182N		NM_021014	NP_066294	Q99909	SSX3_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						TCCTCAGGATCGCTGATCTCT	0.483000														125			166		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64769444	64769444	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:64769444C>T	uc003jtp.3	-	1	871	c.57G>A	c.(55-57)tcG>tcA	p.S19S	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.	19					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S19S(1)		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)		TATGAAATTCCGATGAAGCCA	0.363000														128			45		0	0	1	0	0
RAB38	23682	broad.mit.edu	37	11	87847224	87847224	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:87847224G>A	uc001pcj.2	-	2	651	c.568C>T	c.(568-570)Ccg>Tcg	p.P190S		NM_022337	NP_071732	P57729	RAB38_HUMAN	Homo sapiens RAB38, member RAS oncogene family (RAB38), mRNA.	190					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACGACGTCCGGCTCAATAGAC	0.468000														142			41		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43332497	43332497	+	Silent	SNP	G	A	A	rs139545553	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43332497G>A	uc002yzw.3	-	6	1139	c.897C>T	c.(895-897)ttC>ttT	p.F299F	C2CD2_uc002yzu.3_Silent_p.F131F|C2CD2_uc002yzv.3_Silent_p.F144F|C2CD2_uc002yzx.1_Silent_p.F144F	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	299	C2.					cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GGGTGCTGGAGAACCTCTGAA	0.498000														12			11		0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39158831	39158831	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:39158831C>T	uc003oon.3	-	4	1699	c.1335G>A	c.(1333-1335)ggG>ggA	p.G445G		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	445					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						GGCTCTCCTCCCCTGCCAAGT	0.627000														24			10		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904960	55904960	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55904960G>A	uc010riz.2	-	0	235	c.235C>T	c.(235-237)Cct>Tct	p.P79S		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79N(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGCATTTTAGGGGCAATGACA	0.418000														102			56		0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66998585	66998585	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:66998585C>T	uc002eqt.3	+	5	853	c.774C>T	c.(772-774)atC>atT	p.I258I	CES3_uc010cdz.3_Silent_p.I258I|CES3_uc010viw.2_5'Flank	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	258						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GTGGGGTCATCACCACCCCAG	0.587000														96			28		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25406065	25406065	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25406065G>A	uc001upr.3	+	17	2472	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K	RNF17_uc010tdd.1_Missense_Mutation_p.E670K|RNF17_uc010tde.2_Missense_Mutation_p.E811K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E750K|RNF17_uc010aac.3_Missense_Mutation_p.E9K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	811					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)		AGAAGCTAAAGAAAAATTTGA	0.289000														39			23		0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56910937	56910937	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:56910937G>A	uc003xsk.4	+	10	1365	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	LYN_uc003xsl.4_Silent_p.K340K	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	361	Protein kinase.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TCGAGCGGAAGAACTACATTC	0.448000														48			16		0	0	1	0	0
DQ585850	0	broad.mit.edu	37	9	34133398	34133398	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:34133398C>T	uc003ztv.1	+	1		c.1_splice	c.e1-1		DQ574810_uc022bfx.1_5'Flank					Homo sapiens piRNA piR-43529, complete sequence.																		TCACCTTATCCCCCTTGCTGA	0.557000														33			6		0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49848490	49848490	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49848490C>T	uc003cxr.3	-	9	1328	c.1157G>A	c.(1156-1158)tGg>tAg	p.W386*		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	386	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAAGTAAAGCCACTGGTCCAG	0.602000														41			15		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131027	72131027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:72131027G>A	uc004ahh.2	-	1	1376	c.1100C>T	c.(1099-1101)tCg>tTg	p.S367L		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	367					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGTGTAAGGCGAACGGATGGT	0.617000														78			29		0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57221519	57221519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:57221519G>A	uc010lyk.1	-	3	1171	c.533C>T	c.(532-534)tCa>tTa	p.S178L	SDR16C5_uc003xsy.1_Missense_Mutation_p.S178L|SDR16C5_uc010lyl.1_Missense_Mutation_p.S134L	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	178					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TAATCCAGCTGAACTTGAAAT	0.333000														51			28		0	0	1	0	0
ANXA2	302	broad.mit.edu	37	9	33624284	33624284	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:33624284C>T	uc010mjx.3	+	0	62	c.13C>T	c.(13-15)Cac>Tac	p.H5Y		NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	5	S100A10-binding site (Potential).				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	GTCTACTGTTCACGAAATCCT	0.527000											OREG0019140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			17		0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122677421	122677421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:122677421G>A	uc009zxm.3	+	6	1244	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	LRRC43_uc001ubw.4_Missense_Mutation_p.E222K|LRRC43_uc009zxn.3_Missense_Mutation_p.E168K	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	407	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GTCTGAGGTGGAGGAGTCAGG	0.547000														42			20		0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281254	49281254	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:49281254G>A	uc010acw.1	+	1	591	c.301G>A	c.(301-303)Ggc>Agc	p.G101S	CYSLTR2_uc010acx.1_Missense_Mutation_p.G101S|CYSLTR2_uc010acy.1_Missense_Mutation_p.G101S|CYSLTR2_uc010acz.1_Missense_Mutation_p.G101S|CYSLTR2_uc010ada.1_Missense_Mutation_p.G101S|CYSLTR2_uc010adb.1_Missense_Mutation_p.G101S|CYSLTR2_uc010adc.1_Missense_Mutation_p.G101S|CYSLTR2_uc010add.1_Missense_Mutation_p.G101S|CYSLTR2_uc001vck.2_Missense_Mutation_p.G101S|CYSLTR2_uc021rjl.1_Missense_Mutation_p.G101S	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	101					immune response	integral to membrane|plasma membrane		p.R100K(1)		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TTATCTTAGAGGCTCCAATTG	0.428000														51			28		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34164423	34164424	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34164423_34164424CC>TT	uc001bxm.1	-	23	4031_4032	c.3854_3855GG>AA	c.(3853-3855)cgg>cAA	p.R1285Q	CSMD2_uc001bxn.1_Missense_Mutation_p.R1245Q|CSMD2_uc001bxo.1_Missense_Mutation_p.R158Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1245	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTCACTACCCCGCAGGCTGTA	0.609000														105			10		0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691277	26691277	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26691277G>A	uc001bmg.1	-	3	878	c.760C>T	c.(760-762)Ctt>Ttt	p.L254F	ZNF683_uc001bmh.1_Missense_Mutation_p.L254F|ZNF683_uc009vsj.1_Missense_Mutation_p.L254F	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGGTAGGGAAGCAGGGTCTCC	0.652000														43			34		0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167525098	167525098	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:167525098C>T	uc003ffa.4	+	5	1146	c.948C>T	c.(946-948)ttC>ttT	p.F316F	SERPINI1_uc003ffb.4_Silent_p.F316F	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	316					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CTGAAATTTTCATCAAAGATG	0.294000														100			15		0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91498068	91498068	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:91498068G>A	uc001tbm.3	-	2	1280	c.891C>T	c.(889-891)atC>atT	p.I297I		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	297					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						ATGGCCCCAGGATCTTGCAGA	0.368000														50			17		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118230475	118230475	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:118230475C>T	uc004era.4	-	7	1248	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	416										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GAAGGTTCTTCTTTTGTTTGC	0.463000														11			13		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038664	75038664	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75038664G>A	uc001dgg.3	-	13	2949	c.2730C>T	c.(2728-2730)gcC>gcT	p.A910A		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	910	Glu-rich.									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						CCAAGTTCAGGGCTGCTGCTT	0.542000														227			77		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129498871	129498871	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:129498871C>T	uc021zfb.1	+	9	1432	c.1327C>T	c.(1327-1329)Cat>Tat	p.H443Y	LAMA2_uc003qbn.3_Missense_Mutation_p.H443Y|LAMA2_uc003qbo.3_Missense_Mutation_p.H443Y	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	443	Laminin EGF-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGATCCTGTCATTGCAAAAC	0.443000														34			18		0	0	1	0	0
ZRSR1	7310	broad.mit.edu	37	5	112227676	112227676	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:112227676G>A	uc021ycm.1	+	0	368	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	SRP19_uc011cvu.2_3'UTR|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron					RecName: Full=U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; AltName: Full=CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1; AltName: Full=U2(RNU2) small nuclear RNA auxiliary factor 1-like 1;											breast(1)|skin(1)|stomach(2)	4						aaagttaaaggaacaatggaa	0.428000														32			9		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70049412	70049412	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70049412C>T	uc001svg.3	-	9	1509	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.D215N|BEST3_uc010stm.2_Missense_Mutation_p.D322N	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	428						chloride channel complex|plasma membrane	chloride channel activity	p.D428N(1)|p.D215N(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGGCTGAGGTCATCTCGGGGT	0.592000														90			25		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904282	5904282	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:5904282G>A	uc002wmg.3	+	3	1798	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	CHGB_uc010zqz.2_Missense_Mutation_p.E181K	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	498						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AAACAGGGAGGAAGCTAGGTT	0.488000														62			28		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119926647	119926647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:119926647C>T	uc001txe.3	+	4	998	c.533C>T	c.(532-534)cCt>cTt	p.P178L	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	178								p.K177R(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ACCATGAAGCCTGTGATCACC	0.547000														60			26		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27703020	27703021	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:27703020_27703021GG>AA	uc001itu.2	-	0	277_278	c.159_160CC>TT	c.(157-162)tccccc>tcTTcc	p.P54S		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	54					spermatid development	integral to membrane	hedgehog receptor activity	p.P54P(1)|p.S53F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GAGGGTTCGGGGGATTTCGGGG	0.693000														82			35		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125284948	125284948	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:125284948C>T	uc010flu.3	+	9	1928	c.1564C>T	c.(1564-1566)Cag>Tag	p.Q522*	CNTNAP5_uc002tno.3_Nonsense_Mutation_p.Q521*	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	521	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TATTGATAACCAGCCCAAGGA	0.443000														77			31		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130282378	130282378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130282378G>A	uc010htl.3	+	1	562	c.531G>A	c.(529-531)atG>atA	p.M177I		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	177	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAAGGCCATGGCCACGTCTC	0.463000														68			8		0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725176	158725176	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158725176A>T	uc001fsw.1	+	0	571	c.571A>T	c.(571-573)Att>Ttt	p.I191F		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GATTGCATGGATTTCCACCTT	0.483000														70			35		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677031	73677031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:73677031C>T	uc002sje.1	+	7	3485	c.3374C>T	c.(3373-3375)gCt>gTt	p.A1125V	ALMS1_uc002sjf.1_Missense_Mutation_p.A1083V|ALMS1_uc002sjg.3_Missense_Mutation_p.A513V|ALMS1_uc002sjh.1_Missense_Mutation_p.A513V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1125	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATTTCAGTAGCTCCTGGACTA	0.473000														227			50		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63547747	63547747	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:63547747G>A	uc002lkb.3	+	11	2401	c.1975G>A	c.(1975-1977)Gga>Aga	p.G659R	CDH7_uc002ljz.3_Missense_Mutation_p.G659R	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	659					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGAGGGCGGGGGAGAGGAGGA	0.478000														70			23		0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8757986	8757986	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8757986C>T	uc001qur.2	-	2	331	c.252G>A	c.(250-252)tgG>tgA	p.W84*	AICDA_uc001qup.1_Nonsense_Mutation_p.W79*|AICDA_uc001quq.1_Nonsense_Mutation_p.W79*|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	84					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AGCAGGGGCTCCAGGAGGTGA	0.617000														51			22		0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109103343	109103343	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:109103343C>T	uc003kou.1	+	5	1906	c.943C>T	c.(943-945)Cat>Tat	p.H315Y		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	315					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CCAGAGAGTTCATTATGCAGT	0.423000														139			62		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55493706	55493706	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55493706C>T	uc021vbq.1	+	5	751	c.640C>T	c.(640-642)Cct>Tct	p.P214S	NLRP2_uc010yfp.2_Missense_Mutation_p.P191S|NLRP2_uc002qij.3_Missense_Mutation_p.P214S|NLRP2_uc010esp.3_Missense_Mutation_p.P192S|NLRP2_uc010esn.3_Missense_Mutation_p.P190S|NLRP2_uc010eso.3_Missense_Mutation_p.P211S	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	214	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCTGTATGGTCCTGCAGGCCT	0.532000														76			29		0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27360859	27360859	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27360859G>T	uc002rjb.2	-	2	919	c.339C>A	c.(337-339)ccC>ccA	p.P113P	C2orf53_uc021vfb.1_Silent_p.P113P	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	113	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					agtggttggagggagaggatg	0.577000														17			5		0.014758	0.0147616	1	1	0
OR4A15	81328	broad.mit.edu	37	11	55136211	55136211	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55136211C>T	uc010rif.2	+	0	852	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CCTGTATCTTCTTGTATGCAA	0.408000														257			79		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137593095	137593095	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:137593095C>T	uc004cfe.3	+	3	952	c.570C>T	c.(568-570)ttC>ttT	p.F190F		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	190	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCACCAAATTCCTCGACCGCA	0.512000														28			7		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212752	62212752	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:62212752G>A	uc003xuh.3	+	1	690	c.366G>A	c.(364-366)ctG>ctA	p.L122L	CLVS1_uc003xug.2_Silent_p.L122L|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	122	CRAL-TRIO.				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						AGAGGGCTCTGATCGATGGGT	0.488000														52			15		0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46365631	46365631	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:46365631G>A	uc002xto.3	-	2	561	c.231C>T	c.(229-231)caC>caT	p.H77H	SULF2_uc002xtr.3_Silent_p.H77H|SULF2_uc002xtq.3_Silent_p.H77H|SULF2_uc010ghv.1_Silent_p.H77H	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	77					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						CGTTGATGAAGTGCGCCCCGC	0.597000														75			7		0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903121	4903121	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4903121C>T	uc010qyp.2	+	0	73	c.73C>T	c.(73-75)Caa>Taa	p.Q25*		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		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)		TCAGTGTCTTCAACCAACCAT	0.338000														55			21		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104778670	104778670	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:104778670G>A	uc003ylp.3	+	2	742	c.603G>A	c.(601-603)gtG>gtA	p.V201V		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.	232					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.S200L(1)		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)			TACCTGCAGTGGAGAAAAGTC	0.473000										HNSCC(12;0.0054)				61			14		0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37903940	37903940	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37903940G>A	uc003asx.1	-	5	1104	c.1087C>T	c.(1087-1089)Ctg>Ttg	p.L363L	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_Silent_p.L77L|CARD10_uc003asy.1_Silent_p.L363L	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	363					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TTGAGCCGCAGGTCTTCCATC	0.627000														88			23		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57347137	57347137	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57347137G>A	uc001cyo.2	+	4	616	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	162	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CCTGACCCAGGAAGATGCTCA	0.458000														93			37		0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113221964	113221964	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113221964C>T	uc001pnv.3	+	14	1374	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	TTC12_uc001pnu.3_Silent_p.F417F|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Silent_p.F267F	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	417							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TCAACAGATTCCAAGTCTGGT	0.423000														45			14		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186544533	186544533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:186544533C>T	uc003iyg.3	-	12	2412	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.E780K|SORBS2_uc003iyl.3_Missense_Mutation_p.E680K|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.E584K|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	680						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCGGTGTTTTCGTGTCTGGCT	0.522000														153			43		0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61745770	61745770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:61745770G>A	uc011cqr.2	+	3	506	c.376G>A	c.(376-378)Gag>Aag	p.E126K	IPO11_uc003jtc.3_Missense_Mutation_p.E86K	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	86						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CTCAGAGGAGGAGAAAACTAC	0.328000														78			25		0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935344	151935344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151935344G>A	uc022chl.1	-	0	823	c.823C>T	c.(823-825)Cca>Tca	p.P275S	MAGEA3_uc004fgp.3_Missense_Mutation_p.P275S	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	275	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGCCCTTGGACCCCACAGG	0.532000														52			73		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34030707	34030707	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34030707G>A	uc001zhi.3	+	49	7642	c.7572G>A	c.(7570-7572)tgG>tgA	p.W2524*	RYR3_uc010bar.3_Nonsense_Mutation_p.W2524*	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2524	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTCAGGATGGGGGAGCTACG	0.512000											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			22		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965258	88965258	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:88965258G>A	uc011khi.2	+	3	3500	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	988						intracellular	zinc ion binding	p.E988E(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTATGCAAGTGAGAGCAGAAA	0.398000										HNSCC(36;0.09)				71			38		0	0	1	0	0
ZSCAN23	222696	broad.mit.edu	37	6	28403922	28403922	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28403922G>A	uc003nli.4	-	1	303	c.122C>T	c.(121-123)cCt>cTt	p.P41L	ZSCAN23_uc003nlh.2_Non-coding_Transcript|ZSCAN23_uc010jrf.1_Intron|ZSCAN23_uc011dli.2_Missense_Mutation_p.P41L	NM_001012455	NP_001012458	Q3MJ62	ZSC23_HUMAN	Homo sapiens zinc finger and SCAN domain containing 23 (ZSCAN23), mRNA.	41					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|prostate(1)|stomach(2)	4						TCTGGTATGAGGGTTATTTCT	0.537000														10			4		0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373155	86373155	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:86373155G>A	uc010sum.2	-	5	1580	c.1421C>T	c.(1420-1422)cCa>cTa	p.P474L	MGAT4C_uc001tal.4_Missense_Mutation_p.P450L|MGAT4C_uc001taj.4_Missense_Mutation_p.P450L|MGAT4C_uc001tak.4_Missense_Mutation_p.P450L|MGAT4C_uc001tai.4_Missense_Mutation_p.P450L|MGAT4C_uc001tah.4_Missense_Mutation_p.P450L	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	450					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TATATCAAATGGAATTTTTTG	0.313000														48			10		0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	130011906	130011906	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:130011906C>T	uc010sby.2	+	16	2284	c.2127C>T	c.(2125-2127)atC>atT	p.I709I	APLP2_uc001qfp.3_Silent_p.I697I|APLP2_uc001qfq.3_Silent_p.I641I|APLP2_uc010sbz.2_Silent_p.I497I|APLP2_uc001qfr.3_Silent_p.I463I|APLP2_uc001qfs.3_Silent_p.I468I|APLP2_uc021qsg.1_Silent_p.I707I|APLP2_uc001qfv.3_Silent_p.I600I|APLP2_uc009zcv.3_Silent_p.I57I	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	709					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CCACGGTCATCGTCATCAGCC	0.602000														23			13		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8619417	8619417	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8619417C>T	uc002mkg.3	-	3	408	c.270G>A	c.(268-270)acG>acA	p.T90T	MYO1F_uc010xkf.2_Silent_p.T90T	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	90	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ACATGTTGTCCGTGAGGGCGT	0.622000														123			35		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90500731	90500731	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90500731C>T	uc004app.4	+	3	1364	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L	FAM75E1_uc004apo.1_Silent_p.L255L	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	443						integral to membrane											TCTGGGACCTCCCCTCTCTCA	0.562000														182			23		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7611736	7611736	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:7611736G>A	uc021pmv.1	-	11	2150	c.2044C>T	c.(2044-2046)Ccc>Tcc	p.P682S	ITIH5_uc021pmu.1_Missense_Mutation_p.P468S	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	682					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ACAAAGTGGGGATCACCATCC	0.493000														25			6		0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	137028077	137028077	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:137028077G>A	uc010jek.3	-	4	867	c.423C>T	c.(421-423)gaC>gaT	p.D141D	KLHL3_uc003lbr.4_Silent_p.D59D|KLHL3_uc011cyd.2_Non-coding_Transcript|MYOT_uc011cye.2_Intron|KLHL3_uc010jem.1_Silent_p.D101D|KLHL3_uc010jen.1_Non-coding_Transcript|KLHL3_uc003lbs.1_Silent_p.D9D	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	141						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		ACTGCAGGAAGTCACAGCAGT	0.552000														33			7		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3679990	3679990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3679990C>T	uc002wja.3	-	6	1645	c.1645G>A	c.(1645-1647)Gga>Aga	p.G549R	SIGLEC1_uc002wiz.4_Missense_Mutation_p.G549R	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	549	Ig-like C2-type 5.				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						AGCAGGGCTCCATTCAGGTAC	0.687000														16			5		0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33612897	33612897	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:33612897C>T	uc021qfs.1	+	10	3914	c.3790C>T	c.(3790-3792)Cct>Tct	p.P1264S	C11orf41_uc001mun.1_Intron	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1264						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						TAGAGATGCTCCTCAGGAAAG	0.557000														46			5		0	0	1	0	0
NPFFR1	64106	broad.mit.edu	37	10	72026113	72026113	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72026113G>A	uc021psj.1	-	1	60	c.42C>T	c.(40-42)ccC>ccT	p.P14P		NM_022146	NP_071429	Q9GZQ6	NPFF1_HUMAN	Homo sapiens neuropeptide FF receptor 1 (NPFFR1), mRNA.	14						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						TCTGACTTAGGGGCCAACTGC	0.537000														15			8		0	0	1	0	0
CXCL11	6373	broad.mit.edu	37	4	76956249	76956249	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:76956249C>T	uc003hjm.3	-	2	422	c.212G>A	c.(211-213)gGa>gAa	p.G71E	ART3_uc003hji.3_Intron|ART3_uc003hjj.3_Intron|ART3_uc003hjk.3_Intron	NM_005409	NP_005400	O14625	CXL11_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 11 (CXCL11), mRNA.	71				NKGQ -> IRK (in Ref. 1; AAB17374).	cell-cell signaling|chemotaxis|inflammatory response|signal transduction	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCATCGTTGTCCTTTATTTTC	0.328000														89			34		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86270675	86270675	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:86270675C>T	uc002blv.1	+	28	7238	c.7068C>T	c.(7066-7068)acC>acT	p.T2356T	AKAP13_uc002blu.1_Silent_p.T2360T|AKAP13_uc010bnf.1_Silent_p.T977T|AKAP13_uc002blw.1_Silent_p.T821T|AKAP13_uc002blx.1_Silent_p.T601T	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2356	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGTTGGACACCAGAGCCCGAG	0.438000														93			21		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1920052	1920052	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1920052C>T	uc001aim.1	-	3	351	c.195G>A	c.(193-195)aaG>aaA	p.K65K	KIAA1751_uc009vkz.1_Silent_p.K65K|KIAA1751_uc001ain.1_Silent_p.K65K	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	65										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CAGCTGTTTTCTTCTTCAATT	0.488000														66			27		0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135625210	135625210	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:135625210G>A	uc002ttz.3	+	5	615	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	ACMSD_uc002tua.3_Missense_Mutation_p.R125Q|LOC100129961_uc010zbe.2_Non-coding_Transcript	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	183					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		ATGGATGGACGAATGGCCAAA	0.498000														94			54		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108112947	108112947	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108112947C>T	uc003dxa.1	-	36	5307	c.5250G>A	c.(5248-5250)caG>caA	p.Q1750Q		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1750						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						CAGCTTCTTTCTGCATCCGGG	0.488000														82			51		0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53741697	53741697	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53741697C>T	uc002qbg.1	-	4	434	c.283G>A	c.(283-285)Gac>Aac	p.D95N	ZNF677_uc002qbf.1_Missense_Mutation_p.D95N	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D95N(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TCCTTGAGGTCAAAATTGTTG	0.353000														122			29		0	0	1	0	0
MANEA	79694	broad.mit.edu	37	6	96034781	96034781	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:96034781C>T	uc003poo.2	+	1	646	c.466C>T	c.(466-468)Cct>Tct	p.P156S	MANEA_uc003pon.3_Missense_Mutation_p.P156S	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.	156	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		CAGCTTTTATCCTGAATTGGG	0.408000														118			59		0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66223165	66223165	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:66223165C>T	uc002apm.2	-	10	1545	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K	MEGF11_uc002apl.2_Silent_p.K393K|MEGF11_uc002apn.1_Silent_p.K468K	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	468	EGF-like 8.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CATTACCTTCCTTGCAGGTAC	0.587000														78			54		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43416923	43416923	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43416923C>T	uc003ouy.1	+	19	4399	c.4184C>T	c.(4183-4185)gCt>gTt	p.A1395V	ABCC10_uc003ouz.1_Missense_Mutation_p.A1367V|ABCC10_uc010jyo.1_Missense_Mutation_p.A501V	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1395	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TTGGCCAGGGCTCTCCTCACA	0.592000														63			8		0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223201	35223201	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:35223201C>T	uc001bxu.3	+	1	370	c.270C>T	c.(268-270)ctC>ctT	p.L90L	GJB5_uc021okz.1_Silent_p.L90L|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	90					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CCTCACTGCTCGTGGTCATGC	0.617000														77			18		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110535020	110535021	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110535020_110535021GG>AA	uc003yne.3	+	74	12335_12336	c.12231_12232GG>AA	c.(12229-12234)gtggcc>gtAAcc	p.A4078T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	4078					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TTCATCACGTGGCCTTCGTGTC	0.510000										HNSCC(38;0.096)				29			11		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5013298	5013298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5013298G>A	uc001lzv.3	+	4	718	c.700G>A	c.(700-702)Gac>Aac	p.D234N		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	234					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTGGTATCACGACCCTAGAAC	0.488000														51			19		0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29414516	29414516	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:29414516G>A	uc004dby.2	+	3	1012	c.504G>A	c.(502-504)gaG>gaA	p.E168E		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	168	Ig-like C2-type 2.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GTGACATAGAGGATTTTCTAC	0.378000														49			58		0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25585356	25585356	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:25585356G>A	uc001zaq.3	-	12	3143	c.2383C>T	c.(2383-2385)Cat>Tat	p.H795Y	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Missense_Mutation_p.H772Y|UBE3A_uc001zas.3_Missense_Mutation_p.H792Y|UBE3A_uc001zat.3_Missense_Mutation_p.H772Y	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	795	HECT.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GTAAATGAATGAACGATTTCC	0.368000														86			30		0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70681510	70681510	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:70681510G>A	uc001vip.3	-	0	1116	c.322C>T	c.(322-324)Cct>Tct	p.P108S	KLHL1_uc010thm.2_Missense_Mutation_p.P108S|ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	108					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCCTGCCCAGGAGCCCCTTGC	0.592000														45			27		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080195	54080195	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54080195G>A	uc002qbx.1	+	6	1815	c.381G>A	c.(379-381)aaG>aaA	p.K127K	ZNF331_uc002qby.1_Silent_p.K127K|ZNF331_uc002qbz.1_Silent_p.K127K|ZNF331_uc010eqr.1_Silent_p.K127K|ZNF331_uc002qca.1_Silent_p.K127K|ZNF331_uc021uzg.1_Silent_p.K127K|ZNF331_uc021uzh.1_Silent_p.K127K|ZNF331_uc002qcb.1_Silent_p.K127K|ZNF331_uc002qcc.1_Silent_p.K127K|ZNF331_uc002qcd.1_Silent_p.K127K	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GACATCATAAGGAGAATTCCT	0.423000			T	?	follicular thyroid adenoma									85			36		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39913526	39913526	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39913526C>T	uc010xuz.2	+	17	2157	c.1832C>T	c.(1831-1833)cCa>cTa	p.P611L	PLEKHG2_uc010xuy.2_Missense_Mutation_p.P552L|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.P389L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	611					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGCCTTCCCCACTCCACGTC	0.562000														47			15		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52645218	52645218	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:52645218G>A	uc002xws.2	-	3	774	c.436C>T	c.(436-438)Ccg>Tcg	p.P146S	BCAS1_uc010zzb.1_Missense_Mutation_p.P49S|BCAS1_uc010gim.2_Missense_Mutation_p.P49S|BCAS1_uc002xwt.2_Missense_Mutation_p.P146S|BCAS1_uc010gil.1_Missense_Mutation_p.P146S|BCAS1_uc010zzc.2_Missense_Mutation_p.P49S	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	146						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCCTGCCCCGGTCCAGCTGCC	0.592000														62			27		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153661707	153661707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153661707G>A	uc001fcs.4	+	16	3029	c.2608G>A	c.(2608-2610)Gaa>Aaa	p.E870K	NPR1_uc010pdz.2_Missense_Mutation_p.E616K|NPR1_uc010pea.2_Missense_Mutation_p.E348K	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	870					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGTGCAGGCCGAAGCCTTTGA	0.602000														106			33		0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6467622	6467622	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6467622C>T	uc002mfe.3	-	22	2391	c.2299G>A	c.(2299-2301)Gaa>Aaa	p.E767K	DENND1C_uc002mfb.3_Missense_Mutation_p.E317K|DENND1C_uc002mfc.3_Missense_Mutation_p.E317K|DENND1C_uc002mfd.3_Missense_Mutation_p.E317K|DENND1C_uc010xje.2_Missense_Mutation_p.E723K	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	767						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCTCCTGGTTCCTCCCGTGGC	0.622000														34			19		0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475669	52475669	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52475669C>T	uc003dea.1	-	5	588	c.588G>A	c.(586-588)ctG>ctA	p.L196L		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	196	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCTCTCGCCCCAGGAAGTCAG	0.657000														78			6		0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152319619	152319619	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152319619C>T	uc002txm.3	+	29	3746	c.3585C>T	c.(3583-3585)ttC>ttT	p.F1195F	RIF1_uc002txn.3_Silent_p.F1195F|RIF1_uc002txl.3_Silent_p.F1195F|RIF1_uc002txo.3_Silent_p.F1195F|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1195					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAATTCTTTCGTTGTCAGCA	0.368000														75			37		0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89662818	89662818	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:89662818C>T	uc001dnb.3	-	1	326	c.210G>A	c.(208-210)atG>atA	p.M70I		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	70						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CAAGACGATTCATGAGATAGG	0.488000														56			19		0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100126096	100126096	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:100126096C>T	uc003huo.2	-	7	1183	c.1089G>A	c.(1087-1089)atG>atA	p.M363I	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Missense_Mutation_p.M154I|ADH6_uc003hup.4_Missense_Mutation_p.M363I|ADH6_uc010ile.3_3'UTR	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	363					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TTCCAGTTTTCATTAATTCAA	0.373000														56			31		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32821520	32821520	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:32821520C>T	uc001utx.3	+	47	7385	c.6889C>T	c.(6889-6891)Ctt>Ttt	p.L2297F	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GTCAGCCAGCCTTGTTTTACC	0.408000														100			36		0	0	1	0	0
DUS2L	54920	broad.mit.edu	37	16	68110572	68110572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:68110572C>T	uc002evi.3	+	14	1269	c.1120C>T	c.(1120-1122)Cta>Tta	p.L374L	DUS2L_uc002evj.3_Silent_p.L374L|DUS2L_uc010vkk.2_Silent_p.L339L	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	Homo sapiens dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae) (DUS2L), mRNA.	374	DRBM.				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		TAAGATGTGCCTACTAGAGTG	0.607000														88			21		0	0	1	0	0
PPP1R11	6992	broad.mit.edu	37	6	30037021	30037021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30037021C>T	uc003npb.3	+	2	575	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	PPP1R11_uc010jrw.3_Non-coding_Transcript|PPP1R11_uc003npc.3_Non-coding_Transcript	NM_021959	NP_068778	O60927	PP1RB_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 11 (PPP1R11), mRNA.	107	Pro-rich.					soluble fraction	protein binding|protein phosphatase inhibitor activity			lung(2)|ovary(1)|prostate(1)|skin(2)	6						AGGACCGACCCCCACCACCCC	0.617000														125			68		0	0	1	0	0
TCR	0	broad.mit.edu	37	14	22740410	22740410	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22740410G>A	uc001wdn.3	+	1	347	c.314G>A	c.(313-315)gGg>gAg	p.G105E	TCRA_uc001wbw.2_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_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TCR_uc021rpx.1_Non-coding_Transcript					SubName: Full=Tcell alpha chain; Flags: Fragment;																		TCACAGCTGGGGGACACTGCG	0.473000														47			17		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61115696	61115696	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61115696C>T	uc010qif.1	-	1	202	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	FAM13C_uc010qid.2_5'UTR|FAM13C_uc001jkn.3_Missense_Mutation_p.E24K|FAM13C_uc001jko.3_Missense_Mutation_p.E24K|FAM13C_uc010qie.2_5'UTR	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	24										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACTGGATCTTCGTCACACCTG	0.418000														61			26		0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10290984	10290984	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10290984C>T	uc011atr.2	+	1	681	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	TATDN2_uc003bvg.2_Missense_Mutation_p.P34S|TATDN2_uc003bvf.3_Missense_Mutation_p.P34S|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	34						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	p.P34H(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TGATGTGGCCCCCTCCAGCCG	0.682000														69			36		0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51675865	51675865	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:51675865C>T	uc011bdt.2	+	13	2457	c.2332C>T	c.(2332-2334)Cga>Tga	p.R778*	RAD54L2_uc003dbh.3_Nonsense_Mutation_p.R369*|RAD54L2_uc011bdu.2_Nonsense_Mutation_p.R472*|RAD54L2_uc003dbj.3_Nonsense_Mutation_p.R104*	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	778	Helicase C-terminal.					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)		GAAGTGGGTTCGAAACATCAG	0.493000														8			9		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167517611	167517611	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:167517611G>A	uc010jjd.3	+	7	1548	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E	ODZ2_uc003lzq.2_Silent_p.E395E|ODZ2_uc003lzr.4_Silent_p.E284E	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)		ACGGGAAGGAGAAGTGGAGTG	0.537000														86			23		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344598	20344598	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20344598C>T	uc001vwh.1	+	0	172	c.172C>T	c.(172-174)Cct>Tct	p.P58S		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTACACTCTCCTATGTATTT	0.398000														243			113		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950188	198950188	+	Silent	SNP	C	T	T	rs151231252		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:198950188C>T	uc010fsp.3	+	1	2345	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	PLCL1_uc002uuv.4_Silent_p.I570I	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	649	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.I551I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCATGAGGATCGATTCCAGTA	0.423000														54			21		0	0	1	0	0
GSG1L	146395	broad.mit.edu	37	16	27895874	27895874	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:27895874G>A	uc002doz.2	-	2	568	c.483C>T	c.(481-483)ttC>ttT	p.F161F	GSG1L_uc010bya.1_Intron|GSG1L_uc010bxz.1_Silent_p.F6F|GSG1L_uc002doy.2_Silent_p.F6F	NM_001109763	NP_653276	Q6UXU4	GSG1L_HUMAN	Homo sapiens GSG1-like (GSG1L), transcript variant 1, mRNA.	161						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						TGCTGGAGTGGAAGAGCTCGA	0.587000														14			4		0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51777827	51777827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:51777827G>A	uc001csl.3	-	3	427	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L	TTC39A_uc001csk.3_Silent_p.L108L|TTC39A_uc010ond.2_Silent_p.L80L|TTC39A_uc010one.2_Silent_p.L107L|TTC39A_uc010onf.2_Silent_p.L111L|TTC39A_uc001csn.3_Silent_p.L107L|TTC39A_uc001cso.1_Silent_p.L104L|TTC39A_uc009vyy.1_Silent_p.L80L	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	108							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CGGTTCACCAGGCTGCTGAAG	0.567000														18			4		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22170068	22170068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22170068C>T	uc021urr.1	-	2	325	c.176G>A	c.(175-177)gGa>gAa	p.G59E	ZNF208_uc002nqo.1_Missense_Mutation_p.G59E|ZNF208_uc002nqq.3_Non-coding_Transcript	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.G59E(4)		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)				GGACTCTTTTCCTTCCTCCAG	0.413000														106			9		0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164507045	164507045	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:164507045G>A	uc003iqs.2	-	5	461	c.279C>T	c.(277-279)ctC>ctT	p.L93L	MARCH1_uc003iqr.2_Silent_p.L76L	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	93					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	p.S92F(1)		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)				AGGGTGTGATGAGGGGGCTCT	0.537000														44			16		0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111715	64111715	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64111715G>A	uc001nzy.3	+	13	1751	c.1702G>A	c.(1702-1704)Gac>Aac	p.D568N	CCDC88B_uc009ypo.2_Missense_Mutation_p.D565N|CCDC88B_uc001nzz.1_Missense_Mutation_p.D217N	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	568					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCTGCCATGGACCCCCAGGC	0.632000														67			41		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28802509	28802509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:28802509G>A	uc002rmb.2	+	22	1545	c.1501G>A	c.(1501-1503)Gaa>Aaa	p.E501K	PLB1_uc010ezj.2_Missense_Mutation_p.E512K|PLB1_uc002rmc.3_Missense_Mutation_p.E189K|PLB1_uc002rmd.1_Missense_Mutation_p.E11K	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	501	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACACTTTCAGGAAGACTGGAA	0.423000														76			46		0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44418275	44418275	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44418275T>A	uc002oxu.2	-	3	1412	c.1313A>T	c.(1312-1314)cAt>cTt	p.H438L	ZNF45_uc002oxw.2_Missense_Mutation_p.H438L	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	Homo sapiens zinc finger protein 45 (ZNF45), mRNA.	438					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TTCCCCTGTATGGACTCTAAA	0.478000														110			32		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102707	22102707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22102707G>A	uc010tmc.2	-	0	292	c.292C>T	c.(292-294)Ccg>Tcg	p.P98S		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCACCAAACGGGATAGCCTTG	0.498000														36			20		0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133507337	133507337	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:133507337C>T	uc004bzr.1	+	14	1469	c.1361C>T	c.(1360-1362)cCt>cTt	p.P454L		NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA.	454					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		AGTACCTTTCCTCCAAGGAGC	0.602000														82			26		0	0	1	0	0
FOXN3	1112	broad.mit.edu	37	14	89878700	89878700	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:89878700G>A	uc001xxo.4	-	1	258	c.121C>T	c.(121-123)Ctc>Ttc	p.L41F	FOXN3_uc001xxn.4_Missense_Mutation_p.L41F|FOXN3_uc010atk.3_Missense_Mutation_p.L41F|FOXN3_uc001xxp.2_Missense_Mutation_p.L41F	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	41					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GAAAAGTCGAGGTCATCGTCT	0.522000														101			54		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362178	9362178	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9362178C>T	uc002mlb.1	+	0	459	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ACCGAATCATCATGAACCCAC	0.443000														54			18		0	0	1	0	0
UNC45A	55898	broad.mit.edu	37	15	91492021	91492021	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:91492021C>T	uc002bqg.3	+	12	2215	c.1875C>T	c.(1873-1875)ccC>ccT	p.P625P	UNC45A_uc002bqd.3_Silent_p.P610P|UNC45A_uc010uqr.2_Silent_p.P17P|UNC45A_uc021suj.1_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	625					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGCAGCACCCCAAGGTGAGGG	0.577000														17			8		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323156	61323157	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61323156_61323157CC>TT	uc002lji.3	-	7	1051_1052	c.907_908GG>AA	c.(907-909)gga>AAa	p.G303K	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.G251K	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	303					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATCCACCATTCCCATGGTTCTC	0.505000														121			27		0	0	1	0	0
TRGV3	6976	broad.mit.edu	37	7	38398395	38398396	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:38398395_38398396CC>TT	uc003tgr.2	-	1	174_175	c.71_72GG>AA	c.(70-72)ggg>gAA	p.G24E	LOC100506776_uc003tgp.2_Intron					RecName: Full=T-cell receptor gamma chain V region PT-gamma-1/2; Flags: Precursor;																		ACTTCGTTCTCCCTTCCAAGTT	0.441000														105			19		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196651856	196651856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196651856G>A	uc002utj.4	-	57	10857	c.10756C>T	c.(10756-10758)Cat>Tat	p.H3586Y	DNAH7_uc002uti.4_Missense_Mutation_p.H69Y	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3586	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCAAAGCATGAAAGAAACAC	0.388000														92			21		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45681059	45681059	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45681059G>A	uc002zeg.1	-	1	568	c.84C>T	c.(82-84)tcC>tcT	p.S28S	DNMT3L_uc002zeh.1_Silent_p.S28S	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	28					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CGGGTGAAACGGAGCTTGAGA	0.602000														83			36		0	0	1	0	0
SNX5	27131	broad.mit.edu	37	20	17934726	17934726	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:17934726A>G	uc002wqc.3	-	3	389	c.303T>C	c.(301-303)ggT>ggC	p.G101G	SNX5_uc002wqb.3_Non-coding_Transcript|SNX5_uc002wqd.3_Silent_p.G101G|SNX5_uc002wqe.3_5'UTR|SNX5_uc010zrt.1_Silent_p.G101G	NM_014426	NP_689413	Q9Y5X3	SNX5_HUMAN	Homo sapiens sorting nexin 5 (SNX5), transcript variant 2, mRNA.	101	PX.|Phosphatidylinositol bisphosphate binding (By similarity).				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TCTCTCGAGGACCATCAAAGT	0.493000														174			62		0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27455990	27455991	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:27455990_27455991GG>AA	uc002dor.2	+	6	1249_1250	c.701_702GG>AA	c.(700-702)ggg>gAA	p.G234E	IL21R_uc002doq.2_Missense_Mutation_p.G212E|IL21R_uc002dos.2_Missense_Mutation_p.G212E	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	212					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TCCTACCAGGGGACCTGGAGTG	0.584000			T	BCL6	NHL									86			21		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147811	82147811	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:82147811G>A	uc001szo.2	-	2	351	c.190C>T	c.(190-192)Cag>Tag	p.Q64*	PPFIA2_uc021rbi.1_Nonsense_Mutation_p.Q64*|PPFIA2_uc021rbj.1_Nonsense_Mutation_p.Q64*|PPFIA2_uc021rbk.1_Nonsense_Mutation_p.Q64*|PPFIA2_uc021rbl.1_Nonsense_Mutation_p.Q64*	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	323										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATGACATCCTGAAGTCTTTGC	0.483000														36			4		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55568937	55568937	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:55568937C>T	uc021pqw.1	-	35	5277	c.4882G>A	c.(4882-4884)Gaa>Aaa	p.E1628K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Missense_Mutation_p.E1623K|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					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)				GACTCAGATTCCTCTTCTGTA	0.458000										HNSCC(58;0.16)				50			31		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19411954	19411954	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19411954G>A	uc010tcj.1	-	0		c.34156C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GGAATCCATCGACTTGTTACC	0.443000														67			23		0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133078886	133078886	+	Missense_Mutation	SNP	G	A	A	rs139348170	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:133078886G>A	uc003qdt.3	-	0	148	c.137C>T	c.(136-138)tCt>tTt	p.S46F	VNN2_uc003qds.3_5'UTR|VNN2_uc010kgb.3_Missense_Mutation_p.S46F|VNN2_uc003qdv.3_5'UTR	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	46	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		ATCCTCCTGAGAAACTGGTGT	0.418000														74			35		0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165349587	165349587	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:165349587G>A	uc002ucl.3	-	13	2123	c.1582C>T	c.(1582-1584)Cct>Tct	p.P528S	GRB14_uc010zcv.2_Missense_Mutation_p.P441S	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	528	SH2.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AACTTGCAAGGAAGAACGCCC	0.383000														62			16		0	0	1	0	0
POLDIP3	84271	broad.mit.edu	37	22	42981873	42981873	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:42981873G>A	uc011apq.2	-	8	1340	c.1241C>T	c.(1240-1242)aCc>aTc	p.T414I	POLDIP3_uc011app.2_3'UTR|POLDIP3_uc011apr.2_Non-coding_Transcript|POLDIP3_uc003bcu.3_Missense_Mutation_p.T397I|POLDIP3_uc003bcv.3_Missense_Mutation_p.T368I|POLDIP3_uc010gza.3_Non-coding_Transcript	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 3 (POLDIP3), transcript variant 1, mRNA.	397					positive regulation of translation	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CTTCAGGATGGTGTCAGGGTC	0.582000														91			44		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54798330	54798330	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:54798330C>T	uc003dhf.3	+	12	1380	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.I350I|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.I178I	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	444						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCAAAGTCATCGACCAGGAGC	0.522000														86			40		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28966722	28966722	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28966722C>T	uc002kwr.2	+	2	291	c.156C>T	c.(154-156)atC>atT	p.I52I	DSG4_uc002kwq.2_Silent_p.I52I	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	52	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGGAGTGGATCAAGTTTGCCG	0.438000														110			9		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11535948	11535948	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11535948T>A	uc002gne.3	+	7	1631	c.1563T>A	c.(1561-1563)gaT>gaA	p.D521E		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	521	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D521Y(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGTAGAAGATCTTGACCGAA	0.408000														76			36		0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346532	102346532	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:102346532G>A	uc010utr.2	+	0	610	c.610G>A	c.(610-612)Gga>Aga	p.G204R		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGCCAATAGTGGATTTATTTC	0.343000														187			45		0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18257552	18257552	+	Silent	SNP	G	A	A	rs138099497		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:18257552G>A	uc022asl.1	+	0	39	c.39G>A	c.(37-39)aaG>aaA	p.K13K	NAT2_uc003wyw.1_Silent_p.K13K	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	13					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TTGGCTATAAGAACTCTAGGA	0.373000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					167			56		0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53085871	53085871	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53085871C>T	uc010ydn.2	+	4	820	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C	ZNF701_uc002pzs.2_Missense_Mutation_p.R187C|ZNF701_uc021uyw.1_Missense_Mutation_p.R253C	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GCCAAAAACTCGTATTTCTAA	0.383000														68			33		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52539771	52539771	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52539771G>A	uc003dej.3	+	14	1743	c.1669G>A	c.(1669-1671)Ggc>Agc	p.G557S	STAB1_uc003dei.1_Missense_Mutation_p.G557S	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	557	FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTTGCGTGACGGCCGCCTGAT	0.637000														48			14		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53844098	53844098	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:53844098C>T	uc003dgv.4	+	46	6128	c.5965C>T	c.(5965-5967)Ccc>Tcc	p.P1989S	CACNA1D_uc003dgu.4_Missense_Mutation_p.P2009S|CACNA1D_uc003dgy.4_Missense_Mutation_p.P1965S|CACNA1D_uc003dgw.4_Missense_Mutation_p.P1656S|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1989					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AGCAACCCCTCCCTACCGGGA	0.632000														85			15		0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102585936	102585936	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:102585936C>T	uc010mbu.3	+	5	1105	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C	GRHL2_uc011lhi.1_Missense_Mutation_p.R259C	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	259						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CAAATCTCTCCGTCAGAAGCA	0.507000														43			15		0	0	1	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71260054	71260054	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:71260054C>T	uc001oqs.1	+	0	589	c.351C>T	c.(349-351)tcC>tcT	p.S117S		NM_005553	NP_005544	P26371	KRA59_HUMAN	Homo sapiens keratin associated protein 5-9 (KRTAP5-9), mRNA.	117	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CCTGTTGCTCCTCCTCGGGTC	0.622000														168			61		0	0	1	0	0
TLX1NB	100038246	broad.mit.edu	37	10	102849587	102849587	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:102849587C>T	uc001ksv.3	-	2	1373	c.76G>A	c.(76-78)Gag>Aag	p.E26K		NM_001085398	NP_001078867	P0CAT3	TLXNB_HUMAN	Homo sapiens TLX1 neighbor (TLX1NB), mRNA.	26																	CCCATGGCCTCTTGGGAAAGG	0.657000														15			3		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60063501	60063501	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:60063501G>A	uc001xen.1	-	8	2502	c.2293C>T	c.(2293-2295)Cag>Tag	p.Q765*	RTN1_uc001xem.1_Nonsense_Mutation_p.Q345*|RTN1_uc001xek.2_Nonsense_Mutation_p.Q197*|RTN1_uc010apl.2_Nonsense_Mutation_p.Q182*	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	765	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ATTTTAGCCTGAATCCTAAAA	0.398000														83			32		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113168633	113168633	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113168633C>T	uc010mtz.3	-	37	9584	c.9247G>A	c.(9247-9249)Gaa>Aaa	p.E3083K	SVEP1_uc010mty.3_Missense_Mutation_p.E1009K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3083	Sushi 28.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCACATTTTCCTTCCAAGAG	0.473000														132			39		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192950	132192950	+	Missense_Mutation	SNP	G	A	A	rs141998123		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:132192950G>A	uc003vra.4	-	1	732	c.503C>T	c.(502-504)tCa>tTa	p.S168L	PLXNA4_uc003vrc.2_Missense_Mutation_p.S168L|PLXNA4_uc003vrb.3_Missense_Mutation_p.S168L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	168	Sema.					integral to membrane|intracellular|plasma membrane		p.S168S(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCAAAGACTGAGCCGCTCTC	0.542000														68			21		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13660436	13660436	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:13660436G>A	uc011avc.2	+	6	2354	c.1972G>A	c.(1972-1974)Gag>Aag	p.E658K	FBLN2_uc011auz.2_Missense_Mutation_p.E684K|FBLN2_uc011avb.2_Missense_Mutation_p.E658K|FBLN2_uc011ava.2_Missense_Mutation_p.E658K	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	658						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCCCCACAGGAGCCTGCACT	0.602000														25			6		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6055780	6055780	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:6055780G>A	uc010idb.1	-	12	2289	c.1803C>T	c.(1801-1803)ctC>ctT	p.L601L	JAKMIP1_uc010idc.1_Silent_p.L416L|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Silent_p.L601L|JAKMIP1_uc011bwc.2_Silent_p.L436L|JAKMIP1_uc003giv.4_Silent_p.L601L|JAKMIP1_uc010ide.3_3'UTR	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	601	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.L601L(3)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCTTACTTCGAGTTCTAGCA	0.403000														162			65		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39893908	39893908	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:39893908C>T	uc021olw.1	+	26	12072	c.12072C>T	c.(12070-12072)ttC>ttT	p.F4024F	MACF1_uc021ols.1_Silent_p.F3522F|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Silent_p.F3522F|MACF1_uc001cda.1_Silent_p.F3409F	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	5589					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTTCAGTGTTCGTAAAGGATT	0.448000														33			13		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66075971	66075971	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:66075971C>T	uc001dci.3	+	13	2376	c.1987C>T	c.(1987-1989)Ctt>Ttt	p.L663F	LEPR_uc001dcg.3_Missense_Mutation_p.L663F|LEPR_uc001dch.3_Missense_Mutation_p.L663F|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.L663F|LEPR_uc001dcj.3_Missense_Mutation_p.L663F|LEPR_uc001dck.3_Missense_Mutation_p.L663F	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	663	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGTCACTTTACTTTGGAAGGT	0.284000														50			7		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769732	57769732	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:57769732G>A	uc002yan.3	+	0	3658	c.3658G>A	c.(3658-3660)Ggt>Agt	p.G1220S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1220						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCGAGATGAGGGTCCCAATGG	0.627000														19			11		0	0	1	0	0
VAMP7	6845	broad.mit.edu	37	X	155119159	155119159	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:155119159G>A	uc004fnr.3	+	1	208	c.30G>A	c.(28-30)agG>agA	p.R10R	VAMP7_uc011naa.2_5'UTR|VAMP7_uc011nab.2_5'UTR|VAMP7_uc004fnt.3_Silent_p.R10R|VAMP7_uc004fns.3_Silent_p.R10R|VAMP7_uc011nac.2_5'UTR	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	10	Longin.				ER to Golgi vesicle-mediated transport|calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	Golgi apparatus|SNARE complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGTTGCCAGGGGGACCACTA	0.403000														112			46		0	0	1	0	0
HBZ	3050	broad.mit.edu	37	16	202971	202971	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:202971G>A	uc002cft.1	+	0	118	c.63G>A	c.(61-63)caG>caA	p.Q21Q		NM_005332	NP_005323	P02008	HBAZ_HUMAN	Homo sapiens hemoglobin, zeta (HBZ), mRNA.	21						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TCTCCACGCAGGCCGACACCA	0.627000														29			5		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90537132	90537132	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90537132G>A	uc010mqi.3	+	3	2339	c.2310G>A	c.(2308-2310)caG>caA	p.Q770Q	FAM75C1_uc004apq.4_Silent_p.Q753Q|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CAGCTGGACAGGAGGGCAGGT	0.577000														59			5		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122836061	122836061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:122836061C>T	uc003ieg.2	-	3	1289	c.1215G>A	c.(1213-1215)acG>acA	p.T405T	TRPC3_uc010inr.2_Intron|TRPC3_uc003ief.2_Silent_p.T332T|TRPC3_uc011cgl.1_Silent_p.T69T	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	320					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CATACCAGATCGTCAAGAGCT	0.512000														38			16		0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205068928	205068928	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205068928G>A	uc010prd.2	-	7	1305	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	RBBP5_uc010pre.2_Nonsense_Mutation_p.R180*|RBBP5_uc001hbu.2_Nonsense_Mutation_p.R307*|RBBP5_uc001hbv.2_Nonsense_Mutation_p.R307*	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.	307					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ATGATGGGTCGAACAGGATGC	0.363000														135			50		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22255652	22255652	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22255652G>A	uc010ecx.3	+	1	214	c.45G>A	c.(43-45)ctG>ctA	p.L15L	ZNF257_uc010ecy.3_5'UTR	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	15	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AATTCTCTCTGGAGGAGTGGC	0.433000														160			50		0	0	1	0	0
PARP3	10039	broad.mit.edu	37	3	51979178	51979178	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:51979178C>T	uc003dby.3	+	5	1170	c.799C>T	c.(799-801)Cac>Tac	p.H267Y	PARP3_uc003dbz.3_Missense_Mutation_p.H274Y	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 3 (PARP3), transcript variant 2, mRNA.	267	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAACTTCGGCCACAGCCAGCC	0.652000														114			44		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	22005007	22005007	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22005007C>T	uc001wbe.3	-	0	331	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	SALL2_uc010tma.1_Missense_Mutation_p.E17K|SALL2_uc001wbg.1_Missense_Mutation_p.E17K	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	17							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTGGGACCTTCGCAGTCCGAG	0.632000														45			24		0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64535205	64535205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64535205G>A	uc001obb.2	-	9	1632	c.1180C>T	c.(1180-1182)Ccc>Tcc	p.P394S	SF1_uc010rnm.2_Missense_Mutation_p.P86S|SF1_uc010rnn.2_Missense_Mutation_p.P368S|SF1_uc001oaz.2_Missense_Mutation_p.P519S|SF1_uc001oba.2_Missense_Mutation_p.P394S|SF1_uc001obd.2_Missense_Mutation_p.P394S|SF1_uc001obc.2_Missense_Mutation_p.P394S|SF1_uc001obe.2_Missense_Mutation_p.P279S|SF1_uc010rno.2_Missense_Mutation_p.P279S|SF1_uc021qky.1_5'Flank	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	394	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						AAGCTGTGGGGGCCACCTCCG	0.647000											OREG0004010|OREG0021062	type=REGULATORY REGION|Gene=LOC476031|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			24		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69320593	69320593	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:69320593C>T	uc002ars.2	+	2	254	c.213C>T	c.(211-213)tcC>tcT	p.S71S	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.S53S|NOX5_uc002arp.2_Silent_p.S53S|NOX5_uc010bid.2_Silent_p.S64S|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Silent_p.S71S	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	71	EF-hand 2.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity	p.L70M(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TATTTGACTCCGATAGAAGTG	0.552000														197			34		0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169086465	169086465	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169086465G>A	uc003irm.3	+	5	632	c.468G>A	c.(466-468)atG>atA	p.M156I	ANXA10_uc003irn.3_Missense_Mutation_p.M28I	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	156							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		ATACTCTCATGAACTTGGTCC	0.323000														72			46		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34018600	34018600	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34018600G>A	uc001zhi.3	+	45	6996	c.6926G>A	c.(6925-6927)gGa>gAa	p.G2309E	RYR3_uc010bar.3_Missense_Mutation_p.G2309E	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2309	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCCAGACAGGAAAGGGGGAA	0.557000														19			3		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48258241	48258241	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:48258241G>A	uc002eff.1	-	3	845	c.495C>T	c.(493-495)ttC>ttT	p.F165F	ABCC11_uc002efg.1_Silent_p.F165F|ABCC11_uc002efh.1_Silent_p.F165F|ABCC11_uc010vgl.1_Silent_p.F165F	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	165	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GAAGTGCATCGAAAATCAACC	0.512000														53			25		0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69337234	69337234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69337234C>T	uc003hdz.4	+	4	447	c.383C>T	c.(382-384)aCt>aTt	p.T128I		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	128	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.S127C(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTTCACTCTACTGAGGATCCT	0.373000														234			87		0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186364116	186364116	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:186364116C>T	uc010hyq.3	+	5	935	c.674C>T	c.(673-675)tCa>tTa	p.S225L	FETUB_uc011brz.2_Missense_Mutation_p.S77L|FETUB_uc003fqn.3_Missense_Mutation_p.S225L|FETUB_uc010hyr.3_Missense_Mutation_p.S188L|FETUB_uc010hys.3_Missense_Mutation_p.S77L|FETUB_uc003fqp.4_Missense_Mutation_p.S160L	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	225	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity	p.S225S(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AGCAGCTGTTCACTTCAGTCC	0.408000														125			47		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27465590	27465590	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27465590C>T	uc002rji.3	+	40	6487	c.6325C>T	c.(6325-6327)Ctg>Ttg	p.L2109L	CAD_uc010eyw.3_Silent_p.L2046L	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	2109	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.S2108R(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACCTCCCAGCCTGCGCATGCC	0.652000														72			6		0	0	1	0	0
C7orf29	113763	broad.mit.edu	37	7	150027920	150027920	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150027920G>A	uc003wgy.3	+	0	983	c.427G>A	c.(427-429)Gag>Aag	p.E143K	LRRC61_uc003wgv.3_Intron|LRRC61_uc003wgx.3_Intron|LRRC61_uc003wgw.3_Intron	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	Homo sapiens chromosome 7 open reading frame 29 (C7orf29), mRNA.	143										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CTCCGGGGTGGAGGGGAGAAG	0.632000														34			12		0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587447	36587447	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:36587447C>T	uc003aox.3	-	5	954	c.729G>A	c.(727-729)gcG>gcA	p.A243A	APOL4_uc003aow.3_Silent_p.A240A|APOL4_uc010gww.3_Silent_p.A86A	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant b, mRNA.	244					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						GGACATCATTCGCAATCATTT	0.438000														37			23		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331697	70331697	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70331697G>A	uc001oqc.3	-	20	4615	c.4503C>T	c.(4501-4503)ctC>ctT	p.L1501L	SHANK2_uc010rqn.2_Silent_p.L977L|SHANK2_uc001opz.3_Silent_p.L972L|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1188					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTTCTTCCACGAGCGCGTCTT	0.552000														172			61		0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110300424	110300424	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:110300424G>A	uc011eav.2	+	2	398	c.154G>A	c.(154-156)Gga>Aga	p.G52R	GPR6_uc011eaw.2_Missense_Mutation_p.G37R|GPR6_uc003ptu.3_Missense_Mutation_p.G37R|GPR6_uc021zds.1_Missense_Mutation_p.G37R	NM_005284	NP_005275	P46095	GPR6_HUMAN	Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.	37						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GGGCGAATGGGGACCCCCTGC	0.736000														29			16		0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	89028445	89028445	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:89028445C>T	uc001pcs.3	+	4	1583	c.1501C>T	c.(1501-1503)Cgt>Tgt	p.R501C		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	501					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.R501R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CTTGCTGTGTCGTCACAAGAG	0.537000														46			19		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	344285	344285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:344285G>A	uc001qic.2	-	6	892	c.802C>T	c.(802-804)Cca>Tca	p.P268S	SLC6A13_uc009zdj.2_Missense_Mutation_p.P268S|SLC6A13_uc010sdl.2_Missense_Mutation_p.P176S|SLC6A13_uc010sdm.1_Missense_Mutation_p.P149S	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	268					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GTGAGGTTTGGGTACAGGTAA	0.557000														67			15		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36179516	36179516	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:36179516C>T	uc003gsq.2	-	8	2128	c.1790G>A	c.(1789-1791)aGa>aAa	p.R597K	ARAP2_uc003gsr.1_Missense_Mutation_p.R597K	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	597	PH 2.				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						CTTATAGCCTCTCAATTCAAG	0.398000														100			17		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78647165	78647165	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:78647165G>A	uc001jxn.3	-	27	3747	c.3570C>T	c.(3568-3570)tcC>tcT	p.S1190S	KCNMA1_uc021ptu.1_Silent_p.S1082S|KCNMA1_uc001jxj.2_Silent_p.S1136S|KCNMA1_uc001jxk.1_Silent_p.S808S|KCNMA1_uc009xrt.1_Silent_p.S981S|KCNMA1_uc001jxl.1_Silent_p.S815S|KCNMA1_uc001jxo.3_Silent_p.S1173S|KCNMA1_uc001jxm.3_Silent_p.S1132S|KCNMA1_uc001jxq.3_Silent_p.S1162S|BC030624_uc001jxp.3_5'Flank	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1190					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GGGAGGAATGGGACAGGCTGG	0.587000														59			22		0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110031617	110031617	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110031617C>T	uc001dxr.3	+	6	947	c.932C>T	c.(931-933)tCc>tTc	p.S311F	ATXN7L2_uc001dxs.3_5'UTR	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	311										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAGCGCCCCTCCCAGGAGCTC	0.617000														47			16		0	0	1	0	0
IL20RB	53833	broad.mit.edu	37	3	136708326	136708326	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:136708326C>T	uc003eri.2	+	3	699	c.450C>T	c.(448-450)ttC>ttT	p.F150F	IL20RB_uc003erj.2_Non-coding_Transcript|IL20RB_uc010hud.2_Silent_p.F8F	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA.	150	Fibronectin type-III 2.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAGATGGCTTCCACCTGGTTA	0.582000														58			17		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40061891	40061891	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:40061891C>T	uc003ayc.3	+	22	3984	c.3984C>T	c.(3982-3984)ttC>ttT	p.F1328F	CACNA1I_uc003ayd.3_Silent_p.F1293F|CACNA1I_uc003aye.3_Silent_p.F1243F|CACNA1I_uc003ayf.3_Silent_p.F1208F	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1328					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.F1328L(1)|p.F1293L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCCAGCTCTTCAAGGGCAAGT	0.567000														104			43		0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97170471	97170471	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:97170471G>A	uc001kkp.3	-	7	919	c.874C>T	c.(874-876)Cca>Tca	p.P292S	SORBS1_uc001kkl.3_5'UTR|SORBS1_uc001kkn.3_Missense_Mutation_p.P125S|SORBS1_uc001kkm.3_Missense_Mutation_p.P148S|SORBS1_uc001kko.3_Missense_Mutation_p.P292S|SORBS1_uc001kkq.3_Missense_Mutation_p.P223S|SORBS1_uc001kkr.3_Missense_Mutation_p.P128S|SORBS1_uc001kks.3_Missense_Mutation_p.P128S|SORBS1_uc001kkt.3_Non-coding_Transcript|SORBS1_uc001kku.3_Missense_Mutation_p.P169S|SORBS1_uc001kkv.3_Missense_Mutation_p.P260S|SORBS1_uc001kkw.3_Missense_Mutation_p.P292S|SORBS1_uc010qoe.2_Missense_Mutation_p.P137S|SORBS1_uc010qof.1_Missense_Mutation_p.P490S	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	292				PSVS -> SSEC (in Ref. 1; AAD27647 and 3; AAF22175).	focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTAACTGATGGAAAGGCTTGG	0.428000														71			19		0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204124159	204124159	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204124159G>A	uc001haq.2	-	9	1250	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	ETNK2_uc001hao.4_5'Flank|ETNK2_uc001han.4_5'Flank|ETNK2_uc010pqs.2_5'Flank|ETNK2_uc010pqt.2_5'Flank	NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	402					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGGCCAAGGCGAAGCCAATGC	0.632000														49			18		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105417287	105417287	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105417287G>A	uc010axc.1	-	6	4621	c.4501C>T	c.(4501-4503)Ccg>Tcg	p.P1501S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P1401S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1501						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGAACGACGGCATCTTGAAC	0.602000														289			45		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48145489	48145489	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:48145489C>T	uc002efc.1	-	15	2555	c.2209_splice	c.e15+1	p.V737_splice	ABCC12_uc002eey.1_Intron|ABCC12_uc002eez.1_Intron|ABCC12_uc002efa.1_Intron|ABCC12_uc002efb.1_Intron|ABCC12_uc002efd.1_Intron	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	737						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GGATTCTAACCGATTATACCA	0.448000														339			82		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30926222	30926222	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:30926222G>A	uc010xbr.1	-	7	753	c.611C>T	c.(610-612)tCt>tTt	p.S204F	C18orf34_uc002kxn.2_Missense_Mutation_p.S204F|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.S204F|C18orf34_uc002kxp.3_Missense_Mutation_p.S204F	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	204										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						GACTGACCAAGAGTCAATTTT	0.368000														102			34		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8500760	8500760	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:8500760C>T	uc003zkk.3	-	23	2865	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	708					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATACCATCTTCATTGGTTCGA	0.488000										TSP Lung(15;0.13)				60			37		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75248676	75248676	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75248676C>T	uc001xqj.4	+	3	2054	c.1930C>T	c.(1930-1932)Cct>Tct	p.P644S	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGGGATACCTCCTCAGTTAAC	0.547000														55			23		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55127312	55127312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:55127312G>A	uc003han.4	+	2	431	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_Missense_Mutation_p.E34K|PDGFRA_uc010igq.1_Intron|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	34	Ig-like C2-type 1.				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			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)	CCTTCCAAATGAAAATGAAAA	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)				139			32		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587231	247587231	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247587231G>A	uc001icr.3	+	4	624	c.486G>A	c.(484-486)gtG>gtA	p.V162V	NLRP3_uc001ics.3_Silent_p.V162V|NLRP3_uc001icu.3_Silent_p.V162V|NLRP3_uc001icw.3_Silent_p.V162V|NLRP3_uc001icv.3_Silent_p.V162V|NLRP3_uc010pyw.2_Silent_p.V160V|NLRP3_uc001ict.1_Silent_p.V160V	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	162					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGAGAGTGTGAGCCTCAACA	0.532000														31			8		0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116569584	116569584	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:116569584C>T	uc001egb.4	+	4	799	c.669C>T	c.(667-669)tcC>tcT	p.S223S	SLC22A15_uc001ega.2_Silent_p.S223S	NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA.	223					ion transport	integral to membrane	transmembrane transporter activity	p.R222S(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCATCCGCTCCTGGAGGACCC	0.448000														123			60		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139905714	139905714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139905714G>A	uc004ckm.1	-	37	5984	c.5934C>T	c.(5932-5934)ttC>ttT	p.F1978F	ABCA2_uc022bpy.1_Silent_p.F1879F|ABCA2_uc022bpz.1_Silent_p.F1949F|ABCA2_uc011mem.1_Silent_p.F1948F|ABCA2_uc004ckl.1_Silent_p.F1879F|ABCA2_uc022bqa.1_5'Flank	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1948					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGTAGTTGGGGAAAATGAGGA	0.617000														36			5		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140409953	140409953	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:140409953C>T	uc003eto.2	+	3	2210	c.2004C>T	c.(2002-2004)aaC>aaT	p.N668N		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	668	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGCTGCACAACCTGACCCCCA	0.428000														109			45		0	0	1	0	0
P2RY6	5031	broad.mit.edu	37	11	73007962	73007962	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:73007962C>T	uc021qnb.1	+	0	399	c.399C>T	c.(397-399)gcC>gcT	p.A133A	P2RY6_uc001otm.3_Silent_p.A133A|P2RY6_uc001otn.3_Silent_p.A133A|P2RY6_uc001otq.3_Silent_p.A133A|P2RY6_uc001otr.3_Silent_p.A133A|P2RY6_uc001ots.3_Silent_p.A133A	NM_176798	NP_789768	Q15077	P2RY6_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 6 (P2RY6), transcript variant 2, mRNA.	133					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						ACCCGCTGGCCCCCTGGCACA	0.657000														88			8		0	0	1	0	0
VENTXP7	391518	broad.mit.edu	37	3	21447657	21447657	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:21447657G>A	uc003ccd.3	+	0		c.440G>A								Homo sapiens VENT homeobox pseudogene 7 (VENTXP7), non-coding RNA.																		ATCGCCGGATGAAACACAAAC	0.577000														9			6		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10927488	10927488	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:10927488C>T	uc003mzo.3	+	16	1624	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F	SYCP2L_uc011din.1_Intron|SYCP2L_uc010jow.3_Missense_Mutation_p.S63F	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	443						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)			GCAGAAGAATCCACTAACATG	0.448000														68			20		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468411	56468411	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:56468411C>T	uc021wzo.1	-	0	765	c.625G>A	c.(625-627)Gag>Aag	p.E209K	ERC2_uc003dhr.1_Missense_Mutation_p.E209K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	209						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTCATCTGCTCCTTGAGGACA	0.458000														58			28		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192711529	192711529	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:192711529C>T	uc002utb.3	-	0	478	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	41						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CCTCTGTGTTCCCTAGGTTCA	0.607000														62			33		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103705025	103705025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:103705025G>A	uc001vpy.4	-	2	1127	c.530C>T	c.(529-531)tCc>tTc	p.S177F		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	177					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CATTCCAATGGAAACAGGAAC	0.388000														67			25		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538257	55538257	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55538257C>T	uc003xsd.1	+	3	1963	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	605					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATGATAGGTTCAGTCCTATTT	0.378000														109			33		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56090698	56090698	+	Silent	SNP	G	A	A	rs142311782	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56090698G>A	uc001shh.3	-	11	1954	c.1734C>T	c.(1732-1734)gcC>gcT	p.A578A	ITGA7_uc001shg.3_Silent_p.A574A|ITGA7_uc010sps.2_Silent_p.A481A|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Silent_p.A455A	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	618					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCTGGAACATGGCGTCTCCAC	0.572000														35			10		0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782265	134782265	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:134782265C>T	uc003lav.3	-	0	774	c.534G>A	c.(532-534)ctG>ctA	p.L178L		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	178	Ser-rich.					nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGATGATTTCAGTGATTTTC	0.488000														80			27		0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58055936	58055936	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:58055936G>A	uc021rtp.1	-	2	631	c.582C>T	c.(580-582)ttC>ttT	p.F194F	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Silent_p.F72F	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAACCTACCTGAATTTTTTCA	0.338000														77			30		0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113346348	113346348	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113346348C>T	uc001tuc.3	+	1	294	c.188C>T	c.(187-189)tCc>tTc	p.S63F	OAS1_uc010syn.2_Missense_Mutation_p.S62F|OAS1_uc010syo.2_Missense_Mutation_p.S62F|OAS1_uc001tub.3_Missense_Mutation_p.S63F|OAS1_uc001tud.3_Missense_Mutation_p.S63F|OAS1_uc009zwf.3_Missense_Mutation_p.S62F	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	63					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CAGGGTGGCTCCTCAGGCAAG	0.478000														42			20		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141497184	141497184	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:141497184C>T	uc011bnd.2	+	0	142	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	20					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.A19T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CCTGCAGGCCCGGAAGCCCTC	0.697000														72			35		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43610138	43610138	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:43610138C>T	uc003bdt.2	-	15	2138	c.2011G>A	c.(2011-2013)Ggg>Agg	p.G671R		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	671					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				AGACCAAGCCCGTCGCTGCTG	0.647000														30			14		0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6594260	6594260	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:6594260C>T	uc002gdj.3	-	10	1364	c.1276_splice	c.e10-1	p.A426_splice	SLC13A5_uc010clq.3_Splice_Site_p.A383_splice|SLC13A5_uc002gdk.3_Splice_Site_p.A409_splice|SLC13A5_uc010vtf.2_Splice_Site_p.A426_splice	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	426						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GCCCCGAGGCCTGGGAAGCAC	0.642000														36			35		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121745926	121745926	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:121745926G>A	uc010flp.3	+	12	2466	c.2436G>A	c.(2434-2436)acG>acA	p.T812T	GLI2_uc002tmq.1_Silent_p.T484T|GLI2_uc002tmr.1_Silent_p.T467T|GLI2_uc002tmt.4_Silent_p.T484T|GLI2_uc002tmu.4_Silent_p.T467T	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	812	Ser-rich.				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCACCAGCACGGTCAGCTCGG	0.746000														17			9		0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39965022	39965022	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39965022C>T	uc002olo.4	+	26	2979	c.2800C>T	c.(2800-2802)Ccg>Tcg	p.P934S	SUPT5H_uc002olp.4_Missense_Mutation_p.P934S|SUPT5H_uc002olq.4_Missense_Mutation_p.P930S|SUPT5H_uc002oln.4_Missense_Mutation_p.P934S|SUPT5H_uc002olr.4_Missense_Mutation_p.P934S|SUPT5H_uc002ols.1_Missense_Mutation_p.P557S	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	934	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCACCCTACACCGTCGCCCAT	0.632000											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			15		0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179560	90179560	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:90179560T>C	uc001dnl.4	+	2	1673	c.1431T>C	c.(1429-1431)tgT>tgC	p.C477C		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	477						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGCACCAGTGTTCTGTCAAAA	0.463000														86			36		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12711243	12711243	+	Silent	SNP	C	T	T	rs140616597		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12711243C>T	uc001auf.3	+	1	270	c.270C>T	c.(268-270)acC>acT	p.T90T		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	90						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TTGTGGTGACCGACCTGCGTT	0.502000														107			44		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71394475	71394475	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:71394475G>A	uc010dfm.3	-	22	3187	c.3187C>T	c.(3187-3189)Ccc>Tcc	p.P1063S	SDK2_uc002jjt.4_Missense_Mutation_p.P222S|SDK2_uc010dfn.2_Missense_Mutation_p.P742S	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1063	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.P1063S(2)		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						CAGGTGAAGGGGTTGAGGTCG	0.637000														82			23		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671965	49671965	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:49671965G>A	uc002efs.3	-	4	1396	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	ZNF423_uc010vgn.2_Silent_p.S249S	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	366					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CGCTGCTCATGGAGGCCACGC	0.662000														26			4		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158623135	158623135	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158623135G>A	uc001fst.1	-	21	3316	c.3117C>T	c.(3115-3117)ttC>ttT	p.F1039F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1039					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.F1039F(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGAGCATCGGGAACTCATCGT	0.562000														85			40		0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138235915	138235915	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:138235915C>T	uc003vuc.3	+	7	1466	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	TRIM24_uc003vub.3_Silent_p.I417I|TRIM24_uc022amn.1_Silent_p.I375I	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	417					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CTCAAAATATCATCAACTTAG	0.418000														150			61		0	0	1	0	0
TMEM63A	9725	broad.mit.edu	37	1	226065251	226065251	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:226065251C>A	uc001hpm.2	-	2	652	c.30G>T	c.(28-30)tgG>tgT	p.W10C	TMEM63A_uc010pvi.1_Missense_Mutation_p.W10C	NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	10						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CCTTGGACTGCCACAGCTCCA	0.592000											OREG0014291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			11		6.42651e-13	6.45472e-13	1	1	0
FAM47B	170062	broad.mit.edu	37	X	34962328	34962328	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:34962328G>A	uc004ddi.2	+	0	1416	c.1380G>A	c.(1378-1380)tcG>tcA	p.S460S		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	460										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GACACACATCGAGAAAACTCC	0.468000														76			14		0	0	1	0	0
UBR3	130507	broad.mit.edu	37	2	170863617	170863617	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170863617C>T	uc010zdi.2	+	27	4147	c.4147C>T	c.(4147-4149)Cct>Tct	p.P1383S	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_Missense_Mutation_p.P204S|UBR3_uc002uft.4_Missense_Mutation_p.P236S|UBR3_uc010zdj.2_Missense_Mutation_p.P45S	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1383					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GGAAAATAACCCTTGGCAACG	0.483000														40			11		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64527202	64527202	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:64527202C>T	uc003dmg.3	-	34	5324	c.5292_splice	c.e34+1	p.K1764_splice	ADAMTS9_uc011bfo.2_Splice_Site_p.K1736_splice|ADAMTS9_uc011bfp.1_Splice_Site_p.K675_splice	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1764	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGACATTCACCTTCAGAAGCT	0.398000														112			36		0	0	1	0	0
MFAP5	8076	broad.mit.edu	37	12	8814653	8814653	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8814653G>A	uc001qut.1	-	1	261	c.48C>T	c.(46-48)atC>atT	p.I16I	MFAP5_uc001qus.2_Silent_p.I16I|MFAP5_uc009zge.1_Silent_p.I16I	NM_003480	NP_003471	Q13361	MFAP5_HUMAN	Homo sapiens microfibrillar associated protein 5 (MFAP5), mRNA.	16						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					CAGAGGTGATGATGAATGCAG	0.512000														23			10		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72889588	72889588	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:72889588C>T	uc003pga.3	+	4	859	c.782C>T	c.(781-783)tCc>tTc	p.S261F	RIMS1_uc011dyb.2_5'Flank|RIMS1_uc003pgc.3_5'Flank|RIMS1_uc003pgb.4_5'Flank	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	261					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.S260P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAGGCTTCATCCAGGTCTAGA	0.527000														11			6		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67064772	67064772	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:67064772G>A	uc003xvv.3	+	7	1372	c.1146G>A	c.(1144-1146)gtG>gtA	p.V382V	TRIM55_uc003xvu.3_Silent_p.V382V|TRIM55_uc003xvw.3_Silent_p.V382V|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	382						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TCTCTCAGGTGGAGCTGCAGG	0.552000														67			15		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43251399	43251400	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43251399_43251400GG>AA	uc003ouq.1	+	13	3200_3201	c.2921_2922GG>AA	c.(2920-2922)ggg>gAA	p.G974E	TTBK1_uc021yzs.1_Missense_Mutation_p.G262E	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	974						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GTGGAGGAGGGGGCCCGAGCGC	0.688000														44			33		0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68021793	68021793	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:68021793G>A	uc010cey.3	-	8	1332	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C	DPEP2_uc002eve.3_Missense_Mutation_p.R390C|DPEP2_uc002evf.3_Non-coding_Transcript	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	390					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		AGGTTTCCACGAAGGACACCC	0.562000														179			31		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119923749	119923749	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:119923749G>A	uc001ehr.1	+	1	173	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	HAO2_uc001ehq.1_Missense_Mutation_p.R14Q	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	14	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	p.R14L(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GCCCATGCGCGAGAGCAGCTG	0.468000														154			63		0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50474954	50474954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50474954C>T	uc010ybk.1	+	1	114	c.8C>T	c.(7-9)tCc>tTc	p.S3F	SIGLEC16_uc002prf.3_Intron					Homo sapiens cDNA FLJ50062 complete cds, highly similar to Sialic acid-binding Ig-like lectin 11 precursor.											endometrium(2)|kidney(2)|lung(6)	10						GTGATGGTTTCCCAAGCAAAC	0.597000														97			30		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52031002	52031002	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52031002C>T	uc002pwy.3	-	7	1396	c.1188_splice	c.e7+1	p.R396_splice	SIGLEC6_uc002pwz.3_Splice_Site_p.R380_splice|SIGLEC6_uc010ydb.2_Splice_Site_p.R344_splice|SIGLEC6_uc010ydc.2_Intron|SIGLEC6_uc002pxa.3_Intron|SIGLEC6_uc010eoz.2_Intron	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	396					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTCACTCACCCTGGAGCCTGA	0.488000														164			35		0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27360043	27360043	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27360043G>A	uc002rjb.2	-	2	1735	c.1155C>T	c.(1153-1155)gtC>gtT	p.V385V	PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|C2orf53_uc021vfb.1_Silent_p.V385V	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	385										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGGTAGTGACCTGTTTTG	0.582000														83			32		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11186751	11186751	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11186751G>A	uc001asd.3	-	45	6575	c.6454C>T	c.(6454-6456)Cgc>Tgc	p.R2152C	MTOR_uc001asc.3_Missense_Mutation_p.R357C	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2152					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GACTGAATGCGAATGATTGGC	0.493000														74			34		0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38723952	38723952	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:38723952G>A	uc001wum.1	-	0	1623	c.1276C>T	c.(1276-1278)Cac>Tac	p.H426Y		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	426						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	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;0.00439)		GGGCTTTCGTGAAAGCAGAGC	0.562000														32			25		0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233393629	233393629	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233393629G>T	uc002vsw.3	+	5	571	c.567G>T	c.(565-567)gaG>gaT	p.E189D	CHRND_uc021vyi.1_Intron|CHRND_uc010zmg.2_Missense_Mutation_p.E174D|CHRND_uc010zmh.2_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	189					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		ATGCCAAGGAGAACCGCACCT	0.587000														94			15		0.00316338	0.00316539	1	1	0
ATG2B	55102	broad.mit.edu	37	14	96788538	96788538	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:96788538G>A	uc001yfi.3	-	17	3155	c.2790C>T	c.(2788-2790)atC>atT	p.I930I		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	930										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GAGAATTGCTGATTGCTTTAT	0.333000														50			30		0	0	1	0	0
SFXN2	118980	broad.mit.edu	37	10	104495636	104495636	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104495636C>T	uc001kwb.2	+	10	1005	c.839C>T	c.(838-840)cCa>cTa	p.P280L	SFXN2_uc001kwc.2_Non-coding_Transcript	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	Homo sapiens sideroflexin 2 (SFXN2), mRNA.	280					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TTCATGGTGCCAGTGGCGTGT	0.542000														130			11		0	0	1	0	0
CHRM1	1128	broad.mit.edu	37	11	62677322	62677322	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62677322G>A	uc021qko.1	-	0	1251	c.1251C>T	c.(1249-1251)tgC>tgT	p.C417C	CHRM1_uc001nwi.3_Silent_p.C417C	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	417					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	AGAGTGCGTAGCACATGGGGT	0.607000														146			37		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193120444	193120444	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:193120444G>A	uc003ftd.3	-	29	3696	c.3588C>T	c.(3586-3588)ctC>ctT	p.L1196L	ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	1196					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATGTCCTTCAGAGTTGTTCTT	0.433000														27			24		0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100125744	100125744	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:100125744C>T	uc004egj.3	-	1	311	c.105G>A	c.(103-105)aaG>aaA	p.K35K	NOX1_uc004egl.4_Silent_p.K35K|NOX1_uc010nne.3_Silent_p.K35K	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	35					FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						ATTTGTCGGCCTTCTCATATT	0.378000														42			38		0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9515755	9515755	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:9515755G>A	uc010coc.3	+	8	1243	c.1014G>A	c.(1012-1014)gcG>gcA	p.A338A	WDR16_uc002gly.3_Silent_p.A328A|WDR16_uc002glz.3_Silent_p.A260A			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	328						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.D337D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CGCTCATAGCGACTTGTCACT	0.433000														31			22		0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26517895	26517895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26517895C>T	uc010oez.2	+	1	331	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	CATSPER4_uc010oey.1_5'UTR|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	111					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CACCATCGCTCTCCGTACCAA	0.597000														40			17		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177247706	177247706	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:177247706C>T	uc001glf.3	+	6	1332	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	FAM5B_uc010pna.1_Silent_p.F90F|FAM5B_uc001glg.3_Silent_p.F235F	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	340						extracellular region				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						CAGAAGAGTTCCAGGCCCTGC	0.587000														275			37		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101336183	101336183	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:101336183G>A	uc010svm.1	+	4	898	c.326G>A	c.(325-327)gGa>gAa	p.G109E	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.G74E|ANO4_uc001thx.2_Missense_Mutation_p.G109E	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	109						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						AAATCAAATGGACTTTACTTT	0.368000										HNSCC(74;0.22)				105			24		0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81251861	81251861	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:81251861G>A	uc001xux.2	-	13	1760	c.1589C>T	c.(1588-1590)aCc>aTc	p.T530I	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	530						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						ATACAGCTGGGTTTTCAATTC	0.368000														15			5		0	0	1	0	0
KCNJ11	3767	broad.mit.edu	37	11	17408842	17408842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17408842G>A	uc001mna.3	-	0	1365	c.797C>T	c.(796-798)cCa>cTa	p.P266L	KCNJ11_uc001mnb.4_Missense_Mutation_p.P179L	NM_000525	NP_001159762	B4DWI4	B4DWI4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA.	179						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		GTCGTAGAGTGGGCTGTTGGC	0.607000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		76			30		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234858655	234858655	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234858655C>T	uc002vvh.3	+	8	1045	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	TRPM8_uc010fyj.3_Silent_p.I23I	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	335						integral to membrane		p.I335I(2)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CGGGCCAGATCGCTGATGTGA	0.552000														42			18		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43252892	43252892	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:43252892G>A	uc002lbe.3	+	16	3073	c.2257G>A	c.(2257-2259)Ggc>Agc	p.G753S	SLC14A2_uc010dnj.3_Missense_Mutation_p.G753S	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	753						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGTTGGAATTGGCCAAGTGTA	0.478000														100			31		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17373487	17373487	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17373487C>T	uc002nfs.1	-	3	629	c.516G>A	c.(514-516)gaG>gaA	p.E172E	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Silent_p.E108E|USHBP1_uc010eam.1_Silent_p.E100E	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	172							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GGCGAGCTGCCTCTCGCTGGC	0.677000														114			11		0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93098092	93098092	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:93098092A>G	uc003umv.2	-	7	810	c.510T>C	c.(508-510)gcT>gcC	p.A170A	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Silent_p.A152A|CALCR_uc003umw.2_Silent_p.A152A	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	152					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GACCCACAATAGCCAAATAGT	0.343000														54			15		0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105169497	105169497	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105169497C>T	uc001ypb.2	+	2	590	c.447C>T	c.(445-447)gcC>gcT	p.A149A	INF2_uc001yoy.4_Silent_p.A149A|INF2_uc001ypc.2_Silent_p.A149A	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	149	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TACTGGCTGCCCTGTGCATCT	0.652000														40			14		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136587237	136587237	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136587237C>T	uc002tuu.1	-	2	741	c.730G>A	c.(730-732)Gat>Aat	p.D244N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	244	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGAGGAAATCGACCGTGTCC	0.408000														78			33		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155408848	155408848	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155408848G>A	uc009wqq.3	-	4	5578	c.5098C>T	c.(5098-5100)Ccc>Tcc	p.P1700S	ASH1L_uc001fkt.3_Missense_Mutation_p.P1700S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1700	Ser-rich.				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)			CTTCGAGAGGGAACTCCGTTT	0.413000														58			15		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	20998468	20998468	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:20998468G>A	uc001bdr.4	-	11	2803	c.2685C>T	c.(2683-2685)atC>atT	p.I895I	KIF17_uc001bdp.4_Silent_p.I173I|KIF17_uc009vpx.3_Silent_p.I265I|KIF17_uc001bds.4_Silent_p.I895I	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	895					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGGGATGTGGGATCTTCCAGA	0.572000														103			14		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175576	143175576	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143175576T>A	uc003wdc.1	+	0	611	c.611T>A	c.(610-612)aTt>aAt	p.I204N	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	204					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					ATGCTGTTAATTAATTCTCTG	0.463000														51			24		0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63963095	63963095	+	Nonsense_Mutation	SNP	G	A	A	rs2942671		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:63963095G>A	uc001srp.1	-	20	2216	c.2035C>T	c.(2035-2037)Cga>Tga	p.R679*	DPY19L2_uc010sso.1_Nonsense_Mutation_p.R126*	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	679					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GCAGATTTTCGACTATATGTA	0.264000														102			31		0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127343298	127343298	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:127343298C>T	uc003vmi.3	+	6	987	c.761C>T	c.(760-762)tCg>tTg	p.S254L		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	254	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TTCACTGAGTCGCGACTGCTT	0.493000														75			37		0	0	1	0	0
SUSD5	26032	broad.mit.edu	37	3	33249379	33249379	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:33249379G>A	uc003cfo.1	-	2	748	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_015551	NP_056366	O60279	SUSD5_HUMAN	Homo sapiens sushi domain containing 5 (SUSD5), mRNA.	110	Link.				cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAGCTCTCATGATTTGCTGTT	0.418000														71			30		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687892	61687892	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:61687892C>T	uc002eog.2	-	11	2975	c.2020G>A	c.(2020-2022)Gag>Aag	p.E674K		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	674					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTGTCCTCCTCCCCTCCTCCT	0.383000														134			61		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841080	13841080	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13841080C>T	uc003jfd.2	-	33	5686	c.5644G>A	c.(5644-5646)Gaa>Aaa	p.E1882K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1882	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)					TTCACTCGTTCCGTGGAACTC	0.398000									Kartagener syndrome					84			17		0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24974859	24974859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:24974859C>T	uc002rfk.3	+	17	3974	c.3715C>T	c.(3715-3717)Ccc>Tcc	p.P1239S	NCOA1_uc010eye.3_Missense_Mutation_p.P1239S|NCOA1_uc002rfi.3_Missense_Mutation_p.P1088S|NCOA1_uc002rfj.3_Missense_Mutation_p.P1239S|NCOA1_uc002rfl.3_Missense_Mutation_p.P1239S|NCOA1_uc010eyf.3_Missense_Mutation_p.P132S	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	1239									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAATGGTTCCCCAAGGTGA	0.418000			T	PAX3	alveolar rhadomyosarcoma									63			33		0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11414274	11414274	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:11414274G>A	uc003wty.3	+	8	1461	c.880G>A	c.(880-882)Gag>Aag	p.E294K		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	294	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCTGCAGCACGAGCGGCTGGT	0.577000														49			17		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83180398	83180398	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:83180398C>T	uc001paj.2	-	19	2453	c.2150G>A	c.(2149-2151)cGa>cAa	p.R717Q	DLG2_uc001pai.2_Missense_Mutation_p.R596Q|DLG2_uc010rsy.1_Missense_Mutation_p.R666Q|DLG2_uc021qof.1_Missense_Mutation_p.R756Q|DLG2_uc010rsz.1_Missense_Mutation_p.R713Q|DLG2_uc010rta.1_Missense_Mutation_p.R699Q|DLG2_uc001pak.2_Missense_Mutation_p.R822Q|DLG2_uc010rtb.1_Missense_Mutation_p.R684Q|DLG2_uc010rsx.1_Missense_Mutation_p.R194Q|DLG2_uc010rsw.1_Missense_Mutation_p.R181Q	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	717	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.R717*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTCGTAGTCTCGCTTTGGCCT	0.388000														121			27		0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99934391	99934391	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:99934391C>T	uc004egd.4	-	16	1933	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E	SYTL4_uc004egc.3_5'Flank|SYTL4_uc010nnb.3_Missense_Mutation_p.G198E|SYTL4_uc010nnc.3_Missense_Mutation_p.G526E|SYTL4_uc004ege.4_Missense_Mutation_p.G526E|SYTL4_uc004egf.4_Missense_Mutation_p.G526E	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	526	C2 2.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGGAGCTCTCCCCCTTCCCC	0.512000														14			31		0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196749920	196749920	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:196749920G>A	uc003fxk.4	-	4	666	c.552C>T	c.(550-552)tcC>tcT	p.S184S	MFI2_uc003fxl.4_Silent_p.S184S|MFI2_uc011bua.2_Intron	NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	184	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GGCGACAGAGGGACTCAGAGT	0.617000														29			25		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122839956	122839956	+	Silent	SNP	G	A	A	rs145044274		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:122839956G>A	uc003vkm.3	-	0	70	c.45C>T	c.(43-45)ttC>ttT	p.F15F	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	15						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TGAAAACCACGAAGAGAAATC	0.428000														48			16		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42113041	42113041	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42113041C>T	uc001zok.4	+	23	2797	c.2511C>T	c.(2509-2511)tcC>tcT	p.S837S	MAPKBP1_uc010bci.3_Silent_p.S831S|MAPKBP1_uc010udb.2_Silent_p.S670S|MAPKBP1_uc001zoj.4_Silent_p.S831S|MAPKBP1_uc010bcj.3_Silent_p.S338S|MAPKBP1_uc010bck.3_Silent_p.S48S|MAPKBP1_uc010bcl.3_Silent_p.S338S	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	837										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CACAGGAGTCCGTGGGGTTCC	0.572000														25			11		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1562025	1562025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:1562025G>A	uc002fte.3	-	32	5285	c.5171C>T	c.(5170-5172)cCt>cTt	p.P1724L		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1724	Involved in interaction with pre-mRNA 5' splice site.					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTGTATGAGAGGCTTGCTGCC	0.498000														26			25		0	0	1	0	0
NPIPL1	440350	broad.mit.edu	37	16	28354373	28354373	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:28354373G>A	uc010vcr.2	-	6	1519	c.833C>T	c.(832-834)tCc>tTc	p.S278F	NPIPL1_uc010vcq.2_Missense_Mutation_p.S260F					SubName: Full=Uncharacterized protein;											lung(1)	1						GAGGCTCAGGGAGTTATCAGT	0.507000														75			24		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907749	12907749	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12907749G>A	uc010obf.2	-	1	620	c.394C>T	c.(394-396)Cct>Tct	p.P132S	LOC649330_uc009vno.2_Missense_Mutation_p.P132S	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	132							nucleic acid binding|nucleotide binding										GGAGGAGGAGGAGGTACACGT	0.498000														209			34		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53997401	53997401	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:53997401G>A	uc002acj.2	-	10	1174	c.1132C>T	c.(1132-1134)Caa>Taa	p.Q378*	WDR72_uc010bfi.1_Nonsense_Mutation_p.Q378*	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	378										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAATTATCTTGAAGAGTCCAG	0.353000														72			23		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175360448	175360448	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175360448G>A	uc001gkp.1	-	4	1564	c.1483C>T	c.(1483-1485)Cct>Tct	p.P495S	TNR_uc009wwu.1_Missense_Mutation_p.P495S	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	495	Fibronectin type-III 2.				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)					GCCGAGGTAGGGGGGCTGCGG	0.557000														62			31		0	0	1	0	0
TMEM19	55266	broad.mit.edu	37	12	72092736	72092736	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:72092736T>C	uc001sws.3	+	4	1277	c.694T>C	c.(694-696)Ttt>Ctt	p.F232L	TMEM19_uc001swr.1_Missense_Mutation_p.F218L	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	232						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TGGTGGTACCTTTGTGGGCAT	0.453000														104			61		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887440	3887440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:3887440C>T	uc003bpt.4	+	1	1876	c.1115C>T	c.(1114-1116)cCc>cTc	p.P372L	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.P372L	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	372	LRRCT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CATAGCAATCCCCTCAGGTGT	0.488000														71			21		0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119985684	119985684	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:119985684G>A	uc001ehu.3	+	3	663	c.491G>A	c.(490-492)gGa>gAa	p.G164E				P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNA.	0					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GCCTGGGGAGGAGATAAAGCA	0.483000														28			8		0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76257129	76257129	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:76257129C>T	uc001oxl.3	+	19	3705	c.3562C>T	c.(3562-3564)Ccc>Tcc	p.P1188S	C11orf30_uc001oxm.3_Missense_Mutation_p.P1090S|C11orf30_uc010rsb.2_Missense_Mutation_p.P1203S|C11orf30_uc010rsc.2_Missense_Mutation_p.P1189S|C11orf30_uc001oxn.3_Missense_Mutation_p.P1189S|C11orf30_uc010rsd.2_Missense_Mutation_p.P1097S|C11orf30_uc010rse.2_Missense_Mutation_p.P435S|C11orf30_uc001oxp.3_Intron	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	1188					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AGGATCATTACCCTCCACCCA	0.502000														67			26		0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201983066	201983066	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201983066C>T	uc001gxg.4	+	6	4107	c.915C>T	c.(913-915)ttC>ttT	p.F305F	ELF3_uc001gxi.4_Silent_p.F305F|ELF3_uc001gxh.4_Silent_p.F305F	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	305					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.L306fs*19(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TCTTCAAGTTCCTGCGCTCCG	0.592000														27			5		0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878886	5878886	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5878886G>A	uc010qzr.2	-	0	47	c.47C>T	c.(46-48)tCt>tTt	p.S16F	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGGAATGAAGAAGGATGGAA	0.433000														159			57		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50733414	50733414	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:50733414C>T	uc002egm.1	+	1	194	c.89C>T	c.(88-90)tCg>tTg	p.S30L	NOD2_uc010cbj.1_Missense_Mutation_p.S3L|NOD2_uc021tia.1_5'UTR|NOD2_uc010cbk.1_Missense_Mutation_p.S3L|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	30	CARD 1.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAAATGTGCTCGCAGGAGGCT	0.612000														166			88		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184099561	184099561	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:184099561C>T	uc003fov.3	+	4	815	c.569C>T	c.(568-570)tCg>tTg	p.S190L	CHRD_uc003fow.3_5'UTR|CHRD_uc003fox.3_Missense_Mutation_p.S190L|CHRD_uc003foy.3_5'UTR|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'Flank	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	190	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCGAGTCTCGCTGCTGCGC	0.662000														17			13		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13612089	13612089	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:13612089C>T	uc011avc.2	+	1	616	c.234C>T	c.(232-234)ttC>ttT	p.F78F	FBLN2_uc011auz.2_Silent_p.F104F|FBLN2_uc011avb.2_Silent_p.F78F|FBLN2_uc011ava.2_Silent_p.F78F	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	78	N.|Subdomain NA (Cys-rich).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGGGTGGCTTCGTGCGCGGCC	0.657000														7			3		0	0	1	0	0
ATP5B	506	broad.mit.edu	37	12	57032176	57032176	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57032176G>A	uc001slr.3	-	9	1626	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	BAZ2A_uc001slq.1_5'Flank|BAZ2A_uc010sqr.1_5'Flank	NM_001686	NP_001677	P06576	ATPB_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide (ATP5B), nuclear gene encoding mitochondrial protein, mRNA.	507					ATP hydrolysis coupled proton transport|angiogenesis|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|MHC class I protein binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCACCATATAGAAGGCCTGTT	0.458000														109			55		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439455	150439455	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150439455G>A	uc022apw.1	+	5	980	c.840G>A	c.(838-840)agG>agA	p.R280R	GIMAP1-GIMAP5_uc003whr.2_Silent_p.R76R	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		GGAACGGGAGGAAAGTCCTGG	0.582000														48			28		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228526038	228526038	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228526038G>A	uc009xez.1	+	67	17093	c.17049G>A	c.(17047-17049)gaG>gaA	p.E5683E	OBSCN_uc001hsn.3_Silent_p.E5683E|OBSCN_uc001hsr.1_Silent_p.E311E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5683					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCCTGGGGAGGCTGTGTCTG	0.632000														8			6		0	0	1	0	0
TMEM74B	55321	broad.mit.edu	37	20	1161580	1161580	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:1161580C>T	uc002weq.1	-	1	1355	c.683G>A	c.(682-684)aGa>aAa	p.R228K	TMEM74B_uc010gaa.1_Missense_Mutation_p.R228K	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	Homo sapiens transmembrane protein 74B (TMEM74B), mRNA.	228						integral to membrane	protein binding										ATTGAGCTGTCTCATGCGCAG	0.602000														74			37		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160114869	160114869	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:160114869G>A	uc003lym.1	-	4	1060	c.213C>T	c.(211-213)acC>acT	p.T71T	ATP10B_uc003lyp.2_Silent_p.T71T|ATP10B_uc011deg.1_Silent_p.T115T|ATP10B_uc003lyo.2_5'Flank	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	71					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(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTTGTGCAGGTTCTGTTGC	0.473000														152			47		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656113	40656113	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:40656113C>T	uc002rrx.3	-	0	1332	c.1308G>A	c.(1306-1308)ttG>ttA	p.L436L	SLC8A1_uc002rry.3_Silent_p.L436L|SLC8A1_uc002rsb.2_Silent_p.L436L|SLC8A1_uc002rrz.3_Silent_p.L436L|SLC8A1_uc002rsa.3_Silent_p.L436L|SLC8A1_uc002rsd.4_Silent_p.L436L|SLC8A1_uc010fan.1_Silent_p.L436L|SLC8A1_uc002rsc.1_Silent_p.L436L	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	436	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAGTGTTAGTCAAATCACCAC	0.443000														79			26		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7621837	7621837	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:7621837G>A	uc021pmv.1	-	8	1405	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	ITIH5_uc021pmu.1_Silent_p.I219I|ITIH5_uc001ijr.2_Silent_p.I433I	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	433	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAATGGTGAAGATGCAGACTT	0.617000														67			27		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179621192	179621192	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179621192C>T	uc010pnp.2	+	12	2538	c.2020C>T	c.(2020-2022)Cct>Tct	p.P674S	TDRD5_uc021pfm.1_Missense_Mutation_p.P674S|TDRD5_uc001gnf.2_Missense_Mutation_p.P674S|TDRD5_uc021pfn.1_Missense_Mutation_p.P674S|TDRD5_uc001gnh.2_Missense_Mutation_p.P229S	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	674					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGAGCTCAACCCTTTAGCTTT	0.398000														100			9		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27801932	27801932	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27801932G>A	uc002rkz.4	+	0	2544	c.2493G>A	c.(2491-2493)atG>atA	p.M831I		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	831										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GGAAGCAAATGGAGGAGCTAG	0.438000														103			38		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51914613	51914613	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51914613T>G	uc002pwo.3	-	10	2056	c.1834A>C	c.(1834-1836)Aat>Cat	p.N612H	SIGLEC10_uc002pwp.3_Missense_Mutation_p.N554H|SIGLEC10_uc021uyl.1_Missense_Mutation_p.N434H|SIGLEC10_uc002pwq.3_Missense_Mutation_p.N459H|SIGLEC10_uc010ycz.2_Missense_Mutation_p.N469H|SIGLEC10_uc002pws.2_Missense_Mutation_p.N369H|SIGLEC10_uc002pwr.3_Missense_Mutation_p.N517H|SIGLEC10_uc010ycy.2_Missense_Mutation_p.N427H|SIGLEC10_uc010eow.3_Missense_Mutation_p.N329H	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	612					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCTTTCTGATTCCGCTTCTGA	0.502000														63			23		0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37673727	37673727	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:37673727C>T	uc010cvv.3	+	9	3467	c.2881C>T	c.(2881-2883)Cct>Tct	p.P961S	CDK12_uc010wef.1_Missense_Mutation_p.P960S|CDK12_uc002hrw.4_Missense_Mutation_p.P961S	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	961	Protein kinase.				RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGCTGTGTGGCCTGATGTTAT	0.448000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				114			53		0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154147141	154147141	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:154147141G>A	uc003faa.3	-	0	364	c.264C>T	c.(262-264)ttC>ttT	p.F88F		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	88						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I87I(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCAAAAACATGAAGATGGTCA	0.483000														129			21		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954625	70954625	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:70954625C>T	uc002ezr.3	-	45	7802	c.7651G>A	c.(7651-7653)Ggg>Agg	p.G2551R		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2552										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)				tcctcctccccttccccctcc	0.647000														7			3		0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541145	40541145	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40541145G>A	uc002omu.3	-	4	1686	c.1621C>T	c.(1621-1623)Cac>Tac	p.H541Y	ZNF780B_uc002omv.3_Missense_Mutation_p.H393Y	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGTTGTAGGTGAAGTCTAAAA	0.418000														106			13		0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26128028	26128028	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:26128028G>A	uc001uqk.3	+	11	1297	c.1155G>A	c.(1153-1155)gtG>gtA	p.V385V	ATP8A2_uc010tdi.2_Silent_p.V345V|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Silent_p.V345V	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	345					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTGAGGTTGTGAAGTATACTC	0.383000														90			42		0	0	1	0	0
TMEM211	255349	broad.mit.edu	37	22	25331309	25331309	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:25331309C>T	uc003abk.1	-	2	406	c.381G>A	c.(379-381)atG>atA	p.M127I		NM_001001663	NP_001001663	Q6ICI0	TM211_HUMAN	Homo sapiens transmembrane protein 211 (TMEM211), mRNA.	198						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTTATTTGTTCATTTCTGGCA	0.483000														101			40		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215807904	215807904	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:215807904C>T	uc001hku.1	-	69	15581	c.15194G>A	c.(15193-15195)aGa>aAa	p.R5065K		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	5065					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)		GTGGATTTTTCTTTGTAGTAT	0.448000										HNSCC(13;0.011)				75			24		0	0	1	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332600	71332600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:71332600C>T	uc001jpp.3	-	1	446	c.200G>A	c.(199-201)gGa>gAa	p.G67E	NEUROG3_uc021pry.1_Missense_Mutation_p.G67E	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN	Homo sapiens neurogenin 3 (NEUROG3), mRNA.	67					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CCGGCTGCGTCCCCCGCGCCG	0.697000														9			4		0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149840229	149840229	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:149840229G>A	uc010zbu.2	+	14	2060	c.1665G>A	c.(1663-1665)ttG>ttA	p.L555L	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twt.3_Silent_p.L107L	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	555					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ATTTGCTGTTGAAAGATCTGG	0.453000														35			15		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149882467	149882467	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:149882467C>T	uc001etg.3	-	3	1357	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	SV2A_uc001eth.2_Missense_Mutation_p.R289Q	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	289					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ATGCTCCCCTCGTTTCTCCTG	0.527000														44			8		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82402423	82402423	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:82402423G>A	uc001dit.4	+	4	480	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	LPHN2_uc001dis.3_Missense_Mutation_p.R100Q|LPHN2_uc001diu.3_Missense_Mutation_p.R100Q|LPHN2_uc001div.3_Missense_Mutation_p.R100Q|LPHN2_uc009wcd.3_Missense_Mutation_p.R100Q	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	100	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGCAACAATCGAACACAGTGT	0.318000														87			39		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156135	155156135	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155156135G>A	uc003inw.2	-	24	8304	c.8304C>T	c.(8302-8304)acC>acT	p.T2768T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2768					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CATGATCAGAGGTCGTCTGAG	0.418000														98			45		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167882460	167882460	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:167882460C>T	uc003lzu.3	+	18	2851	c.2758C>T	c.(2758-2760)Cga>Tga	p.R920*	WWC1_uc003lzv.3_Nonsense_Mutation_p.R920*|WWC1_uc011den.2_Nonsense_Mutation_p.R920*|WWC1_uc003lzw.3_Nonsense_Mutation_p.R719*|WWC1_uc010jjf.1_Nonsense_Mutation_p.R192*	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	920	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCCATTTCTTCGAGGGAGCAC	0.642000														151			31		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51993386	51993386	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51993386G>A	uc002abh.3	+	9	1555	c.1152G>A	c.(1150-1152)aaG>aaA	p.K384K	SCG3_uc010ufz.2_Silent_p.K152K	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	384					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GAAGCTTGAAGGATTCCACAA	0.423000														83			34		0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64275848	64275848	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:64275848C>T	uc002amr.3	-	2	229	c.198G>A	c.(196-198)gtG>gtA	p.V66V	DAPK2_uc010uim.2_Non-coding_Transcript|DAPK2_uc010bgu.1_Silent_p.V56V	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	66	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		CCTCCCGGCTCACACCGCGCC	0.622000														77			14		0	0	1	0	0
SLC9A7	84679	broad.mit.edu	37	X	46522065	46522065	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:46522065C>T	uc004dgu.1	-	5	815	c.807G>A	c.(805-807)gcG>gcA	p.A269A	SLC9A7_uc004dgv.1_Silent_p.A269A	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	269					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	p.A269V(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CATTAAATATCGCCAGCACAG	0.403000														16			20		0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38678933	38678933	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:38678933C>T	uc021rsi.1	+	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F	SSTR1_uc001wul.1_Silent_p.F113F	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	113					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)	GCGTGCCCTTCCTAGTCACCT	0.572000														202			50		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17017874	17017874	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17017874G>A	uc002nfb.3	-	29	4088	c.4056C>T	c.(4054-4056)ccC>ccT	p.P1352P		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1305						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCATGGCCAGGGGCGCAGCAG	0.662000														18			8		0	0	1	0	0
TTLL13	440307	broad.mit.edu	37	15	90794047	90794047	+	Missense_Mutation	SNP	C	T	T	rs144811975		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90794047C>T	uc002bpd.1	+	1	473	c.185C>T	c.(184-186)cCg>cTg	p.P62L	TTLL13_uc002bpe.1_Non-coding_Transcript	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	62					protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			ACAAAAATTCCGAAGAAAGTC	0.478000														139			103		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402151	89402151	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89402151G>A	uc010upo.1	+	11	6709	c.6335G>A	c.(6334-6336)gGg>gAg	p.G2112E	ACAN_uc010upp.1_Missense_Mutation_p.G2112E|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2112					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)			GCTGGGTTCGGGGCATCTGCC	0.552000														80			21		0	0	1	0	0
IGF1	3479	broad.mit.edu	37	12	102869555	102869555	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:102869555G>A	uc001tjp.4	-	1	305	c.86C>T	c.(85-87)tCc>tTc	p.S29F	IGF1_uc001tjn.2_Missense_Mutation_p.S13F|IGF1_uc001tjm.2_Missense_Mutation_p.S29F|IGF1_uc001tjo.2_Missense_Mutation_p.S29F	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	29					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						GAGATGCGAGGAGGACATGGT	0.597000														24			4		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55976628	55976628	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:55976628G>A	uc003has.3	-	8	1499	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	KDR_uc003hat.1_Silent_p.I399I|KDR_uc011bzx.2_Silent_p.I399I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	399	Ig-like C2-type 4.				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.V398A(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)	GATTGGTAAGGATGACAGTGT	0.423000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				67			31		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228525785	228525785	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228525785C>T	uc009xez.1	+	66	16985	c.16941C>T	c.(16939-16941)acC>acT	p.T5647T	OBSCN_uc001hsn.3_Silent_p.T5647T|OBSCN_uc001hsr.1_Silent_p.T275T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5647	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.A5646V(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAAGCCCACCAAGTCCAGCC	0.652000														15			6		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537102	5537102	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5537102G>A	uc001maz.4	-	0	855	c.570C>T	c.(568-570)ttC>ttT	p.F190F	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	190										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		ACTGCCACATGAACTCCATGT	0.473000														105			66		0	0	1	0	0
GKN1	56287	broad.mit.edu	37	2	69204639	69204640	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:69204639_69204640GG>AA	uc002sfc.3	+	1	130_131	c.67_68GG>AA	c.(67-69)gga>AAa	p.G23K		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	Homo sapiens gastrokine 1 (GKN1), mRNA.	23					digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						TGTCTTTGCTGGACTTCTTGGA	0.371000														111			36		0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48240510	48240510	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48240510G>A	uc001rql.3	-	7	1388	c.987C>T	c.(985-987)ttC>ttT	p.F329F	VDR_uc001rqm.3_Silent_p.F279F|VDR_uc001rqn.3_Silent_p.F279F|VDR_uc010slq.2_Silent_p.F247F	NM_001017536	NP_001017536	P11473	VDR_HUMAN	Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 3, mRNA.	279	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CGTCCATGGTGAAGGACTCAT	0.552000														64			27		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189850395	189850395	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189850395C>T	uc002uqj.1	+	3	455	c.338C>T	c.(337-339)cCt>cTt	p.P113L		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	113					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTTTAGGGCCCTCCTGGTATT	0.413000														13			7		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853693	122853693	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:122853693C>T	uc003ieg.2	-	1	794	c.720G>A	c.(718-720)gcG>gcA	p.A240A	TRPC3_uc010inr.2_Silent_p.A167A|TRPC3_uc003ief.2_Silent_p.A167A|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	155					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.L239I(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGCAGTGCGCCGCCAGGATGA	0.617000														65			15		0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53721836	53721836	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:53721836G>A	uc002ehp.3	-	4	635	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	RPGRIP1L_uc002eho.4_Missense_Mutation_p.P191S|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.P191S|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.P191S|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.P191S|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.P191S	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	191					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GTAAACATGGGATGTGGAGTT	0.308000														168			17		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150696629	150696629	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:150696629G>A	uc003lty.3	-	9	1331	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Missense_Mutation_p.P203S	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	401					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAGGCGGGGGATGAGGATG	0.582000														23			5		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30024934	30024934	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:30024934G>A	uc001zcr.3	-	13	2297	c.1822C>T	c.(1822-1824)Cgc>Tgc	p.R608C	TJP1_uc010azl.3_Missense_Mutation_p.R596C|TJP1_uc001zcq.3_Missense_Mutation_p.R612C|TJP1_uc001zcs.3_Missense_Mutation_p.R608C	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	608	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTGGAGCTGCGAAGACCTCTG	0.473000														65			16		0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95680211	95680211	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:95680211G>A	uc003ygq.4	+	9	1149	c.966G>A	c.(964-966)aaG>aaA	p.K322K	ESRP1_uc003ygr.4_Silent_p.K322K|ESRP1_uc003ygs.4_Silent_p.K322K|ESRP1_uc003ygt.4_Silent_p.K322K|ESRP1_uc003ygu.4_Silent_p.K322K|ESRP1_uc003ygv.3_Silent_p.K162K|ESRP1_uc003ygw.3_Silent_p.K162K	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	322					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TTCTCTCCAAGGAAAATCAAG	0.463000														43			16		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508120	37508120	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:37508120G>A	uc021ppc.1	+	33	3411	c.3312G>A	c.(3310-3312)agG>agA	p.R1104R	ANKRD30A_uc001iza.1_Silent_p.R1104R	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1160						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAACTAAAAGGGCATCTCAAT	0.333000														183			51		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4281435	4281435	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:4281435C>T	uc003smx.3	+	42	6280	c.6141C>T	c.(6139-6141)atC>atT	p.I2047I	SDK1_uc010kso.3_Silent_p.I1303I|SDK1_uc003smy.3_Silent_p.I534I|SDK1_uc003smz.3_Silent_p.I107I	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	2047					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAAAGGGGATCTCCACCATGG	0.602000														30			10		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284432	159284432	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159284432G>A	uc010piu.2	-	0	18	c.18C>T	c.(16-18)tcC>tcT	p.S6S		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TCACAAAAGTGGAATTTAGCT	0.438000														162			65		0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113703917	113703917	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113703917C>T	uc011lwo.2	-	1	582	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	LPAR1_uc004bfa.3_Missense_Mutation_p.E193K|LPAR1_uc011lwm.2_Missense_Mutation_p.E194K|LPAR1_uc004bfc.3_Missense_Mutation_p.E193K|LPAR1_uc011lwn.2_Missense_Mutation_p.E175K|LPAR1_uc004bfb.3_Missense_Mutation_p.E193K|LPAR1_uc010mub.3_Missense_Mutation_p.E193K	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	193					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GAACAATTTTCAATATCACAG	0.483000														71			41		0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37905027	37905027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:37905027G>A	uc002ogj.3	-	8	1537	c.605C>T	c.(604-606)tCa>tTa	p.S202L	ZNF569_uc002ogh.3_Missense_Mutation_p.S19L|ZNF569_uc002ogi.3_Missense_Mutation_p.S178L	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I202I(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAATGGGATGAGCTATTACC	0.353000														46			30		0	0	1	0	0
MDS2	259283	broad.mit.edu	37	1	23919060	23919060	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:23919060G>A	uc001bhi.3	+	1		c.273G>A								Homo sapiens myelodysplastic syndrome 2 translocation associated (MDS2), non-coding RNA.											breast(1)|ovary(2)	3						CCACCATGAAGCCCTTGATCC	0.458000			T	ETV6	MDS									10			3		0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72360523	72360523	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72360523C>T	uc009xqg.3	-	1	297	c.136G>A	c.(136-138)Gag>Aag	p.E46K	PRF1_uc001jrf.4_Missense_Mutation_p.E46K	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	46	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	p.G45V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCCACACCCTCCCCGGCCAGC	0.682000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					46			6		0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47371532	47371532	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:47371532C>T	uc003crd.3	+	3	619	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	KLHL18_uc003crc.2_Nonsense_Mutation_p.Q165*|KLHL18_uc011bav.2_Nonsense_Mutation_p.Q53*|KLHL18_uc010hjq.2_Nonsense_Mutation_p.Q16*	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	165	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CTTCATCCACCAGCACTTTGT	0.532000														88			29		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107865087	107865087	+	Missense_Mutation	SNP	G	A	A	rs104886363		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:107865087G>A	uc022ccg.1	+	31	2934	c.2732G>A	c.(2731-2733)gGa>gAa	p.G911E	COL4A5_uc004enz.1_Missense_Mutation_p.G911E|COL4A5_uc004eob.1_Missense_Mutation_p.G519E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	911	Triple-helical region.		G -> E (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGACCTTTGGGAATTCCTGGC	0.423000									Alport syndrome with Diffuse Leiomyomatosis					13			6		0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177694313	177694313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:177694313G>A	uc021yiz.1	-	7	875	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S	COL23A1_uc021yiy.1_5'UTR|COL23A1_uc010jkt.2_Silent_p.A20A	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	173	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CTTACCCGGGGGCCAAAGTCT	0.557000														40			7		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779911	36779912	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36779911_36779912GG>AA	uc003cgi.2	-	1	730_731	c.239_240CC>TT	c.(238-240)ccc>cTT	p.P80L		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	80						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AAAGCTCCTCGGGGATCTTCCC	0.614000														174			73		0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62398592	62398592	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62398592G>A	uc001nua.3	-	10	1159	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	GANAB_uc001nub.3_Missense_Mutation_p.R354C|GANAB_uc001nuc.3_Missense_Mutation_p.R257C|GANAB_uc010rma.2_Missense_Mutation_p.R262C|GANAB_uc010rmb.2_Missense_Mutation_p.R240C	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	354					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GACATCCAGCGAACATCTGTC	0.537000														285			78		0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48374717	48374717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:48374717C>T	uc002phr.2	-	5	993	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	285					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	p.W284*(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		GGACGTTATTCCCATGGGAAC	0.428000														77			22		0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92953005	92953005	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92953005C>T	uc003umo.3	+	20	2066	c.1938C>T	c.(1936-1938)taC>taT	p.Y646Y	CCDC132_uc003ump.3_Silent_p.Y616Y|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Silent_p.Y366Y	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	646										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGATTATTACTTGTATGCAA	0.269000														38			9		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80729743	80729743	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:80729743C>T	uc001szd.3	+	38	4402	c.4396_splice	c.e38-1	p.P1466_splice		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTATTAACAGCCTCAGAAATT	0.328000														42			7		0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204086786	204086786	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204086786C>T	uc001ham.3	+	6	1321	c.726C>T	c.(724-726)acC>acT	p.T242T	SOX13_uc001hal.3_Silent_p.T242T|SOX13_uc010pqp.2_Silent_p.T241T|SOX13_uc010pqq.2_Silent_p.T109T	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	242	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCCTGTCACCCCTGACTCCC	0.587000														20			10		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134896036	134896036	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:134896036C>T	uc001llw.3	+	5	1122	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CTCCTGCCTTCTTTCAATACC	0.587000														15			7		0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19410551	19410551	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:19410551C>T	uc022btq.1	-	16	2235	c.2235G>A	c.(2233-2235)atG>atA	p.M745I	MAP3K15_uc004czj.2_Missense_Mutation_p.M180I|MAP3K15_uc004czk.2_Missense_Mutation_p.M220I	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	745	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCGGTTCCTTCATCGGCCCCC	0.433000														34			64		0	0	1	0	0
PPYR1	5540	broad.mit.edu	37	10	47087825	47087825	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:47087825G>A	uc001jee.3	+	2	1461	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.E348K|PPYR1_uc021ppu.1_Missense_Mutation_p.E348K	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	348					blood circulation|digestion|feeding behavior	integral to plasma membrane		p.E347E(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCCCCTGGAGGAGTCGGAGCA	0.552000														142			17		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143793109	143793109	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143793109C>T	uc011kty.2	+	0	909	c.909C>T	c.(907-909)gtC>gtT	p.V303V		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TAAAGAGAGTCCTTTGGAAAC	0.438000														172			55		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65263330	65263330	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:65263330C>T	uc001xht.3	-	9	1337	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	SPTB_uc001xhr.3_Missense_Mutation_p.R429Q|SPTB_uc001xhs.3_Missense_Mutation_p.R429Q|SPTB_uc001xhu.3_Missense_Mutation_p.R429Q	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	429					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCGGCCTTCCGGTCAAAGCG	0.587000														56			21		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004741	52004741	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52004741G>A	uc002pwx.1	-	0	303	c.247C>T	c.(247-249)Cga>Tga	p.R83*	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	83	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding	p.A82V(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGCACTGCTCGAGCTGGGTTG	0.572000														128			47		0	0	1	0	0
NR1H4	9971	broad.mit.edu	37	12	100926317	100926317	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:100926317G>A	uc001tht.2	+	2	585	c.557G>A	c.(556-558)cGa>cAa	p.R186Q	NR1H4_uc001thq.2_Missense_Mutation_p.R176Q|NR1H4_uc001thp.2_Missense_Mutation_p.R176Q|NR1H4_uc001thr.2_Missense_Mutation_p.R176Q|NR1H4_uc010svk.2_Intron|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.R186Q	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	186					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						ATGTACATGCGAAGAAAGTGT	0.408000														75			28		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12725985	12725985	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12725985C>T	uc001auf.3	+	3	463	c.463C>T	c.(463-465)Cct>Tct	p.P155S		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	155						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CCGCAAGCTTCCTGACCACCA	0.522000														80			22		0	0	1	0	0
LCE2A	353139	broad.mit.edu	37	1	152671682	152671682	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152671682C>T	uc021oze.1	+	0	305	c.305C>T	c.(304-306)tCt>tTt	p.S102F	LCE2A_uc001faj.3_Missense_Mutation_p.S102F	NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	Homo sapiens late cornified envelope 2A (LCE2A), mRNA.	102	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCACAGCTCTGGGGACTGC	0.602000														106			18		0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405281	68405281	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:68405281C>T	uc002ewa.3	-	2	1226	c.804G>A	c.(802-804)agG>agA	p.R268R	SMPD3_uc010cfe.3_Silent_p.R268R|SMPD3_uc010vlh.2_Silent_p.R268R	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	268					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CAGCTCCGTTCCTGGCCTGGC	0.716000														22			14		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56204804	56204804	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:56204804G>A	uc002lhj.4	-	4	2829	c.2615C>T	c.(2614-2616)tCa>tTa	p.S872L	ALPK2_uc002lhk.1_Missense_Mutation_p.S203L	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	872							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CGTAGACACTGAAGTCTCAGA	0.423000														50			7		0	0	1	0	0
CHMP4C	92421	broad.mit.edu	37	8	82670728	82670728	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:82670728G>A	uc003ycl.3	+	4	825	c.651G>A	c.(649-651)agG>agA	p.R217R		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA.	217	Intramolecular interaction with N- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						CTTCCCAGAGGGCAGAAGAAG	0.313000														85			19		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61941113	61941113	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61941113C>T	uc001jky.3	-	17	2496	c.2158G>A	c.(2158-2160)Ggg>Agg	p.G720R	ANK3_uc010qih.2_Missense_Mutation_p.G703R|ANK3_uc001jkz.4_Missense_Mutation_p.G714R|ANK3_uc001jlb.1_Missense_Mutation_p.G249R|ANK3_uc001jlc.1_Missense_Mutation_p.G381R	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	720					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						ACATGAGCCCCTTGGTTTACG	0.498000														143			36		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150693611	150693611	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150693611C>T	uc003wif.3	+	3	686	c.390C>T	c.(388-390)ttC>ttT	p.F130F	NOS3_uc011kuy.2_Intron|NOS3_uc011kva.2_Silent_p.F130F|NOS3_uc011kuz.2_Silent_p.F130F|NOS3_uc011kvb.2_Silent_p.F130F	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	130	Interaction with NOSIP.				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)	CCCGGGACTTCATCAACCAGT	0.652000														23			13		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123887067	123887067	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123887067C>T	uc010sac.2	+	0	786	c.786C>T	c.(784-786)ggC>ggT	p.G262G		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGAGGCCAGGCTCCATGGATG	0.522000														60			15		0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048319	6048319	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6048319G>A	uc010qzw.2	-	0	653	c.616C>T	c.(616-618)Caa>Taa	p.Q206*		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCACAAATTGGTAGATTCTG	0.453000														99			31		0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220267642	220267642	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:220267642C>T	uc001hmc.3	+	0	188	c.84C>T	c.(82-84)ccC>ccT	p.P28P	RNU5F-1_uc021pjd.1_Intron	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	28					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CCCGCCTTCCCTGCAGCCCGG	0.711000														30			6		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110910	81110910	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81110910C>T	uc001szg.2	+	0	203	c.68C>T	c.(67-69)tCc>tTc	p.S23F		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	23					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TGCATACCGTCCCCCGAGGGT	0.617000														41			14		0	0	1	0	0
ZNF774	342132	broad.mit.edu	37	15	90897934	90897934	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90897934C>T	uc002bpk.4	+	1	228	c.42C>T	c.(40-42)caC>caT	p.H14H		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	Homo sapiens zinc finger protein 774 (ZNF774), mRNA.	14	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G13R(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TACCTGGACACTGCTTAGAGA	0.458000														26			8		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19349165	19349166	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19349165_19349166CC>TT	uc002nlz.3	+	10	3453_3454	c.3354_3355CC>TT	c.(3352-3357)cgccgc>cgTTgc	p.R1119C	NCAN_uc010ecc.1_Missense_Mutation_p.R683C|NCAN_uc002nma.3_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1119	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	p.R1119S(2)|p.R1133S(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ACTGCCGCCGCCGCTCCGGCCA	0.653000														86			27		0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88367436	88367436	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:88367436G>A	uc002ssr.3	+	0	138	c.53G>A	c.(52-54)gGa>gAa	p.G18E	SMYD1_uc002ssq.2_Missense_Mutation_p.G18E	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GAGGGCAAAGGAAGGGGTCTG	0.522000														147			68		0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	74009390	74009390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:74009390C>T	uc010rrj.2	-	3	627	c.584G>A	c.(583-585)gGg>gAg	p.G195E	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Missense_Mutation_p.G195E			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	195						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GTAATAATCCCCCATGTCATA	0.458000														115			46		0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61102816	61102816	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:61102816C>T	uc001vhz.4	+	10	1966	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L	TDRD3_uc010aef.2_Missense_Mutation_p.P218L|TDRD3_uc001via.3_Missense_Mutation_p.P393L|TDRD3_uc010aeg.3_Missense_Mutation_p.P486L|TDRD3_uc001vib.4_Missense_Mutation_p.P392L	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	393					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ACTTCATATCCTTTAGGTTCT	0.373000														91			23		0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882619	152882619	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152882619G>A	uc021ozl.1	+	0	346	c.346G>A	c.(346-348)Gat>Aat	p.D116N	IVL_uc001fau.3_Missense_Mutation_p.D116N	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	116					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACACAAAGGGATCAGCAGCT	0.473000														44			21		0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21370127	21370127	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21370127C>T	uc001req.4	+	11	1676	c.1572C>T	c.(1570-1572)tgC>tgT	p.C524C		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	524					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TGGGTGAATGCCCAAGAGATG	0.383000														53			24		0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123301371	123301371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:123301371G>A	uc003ieo.3	+	2	379	c.147G>A	c.(145-147)atG>atA	p.M49I	ADAD1_uc003iep.3_Missense_Mutation_p.M49I|ADAD1_uc003ieq.3_Missense_Mutation_p.M31I	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	49					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGTCCAAGATGGCATCCAAGG	0.453000														58			34		0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1119445	1119445	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1119445G>A	uc001acy.2	+	11	1385	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	TTLL10_uc010nyg.1_Missense_Mutation_p.D412N|TTLL10_uc001acz.2_Missense_Mutation_p.D339N	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	412	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCATTCCAGCGACCTCGGCGG	0.597000														208			58		0	0	1	0	0
TXNRD1	7296	broad.mit.edu	37	12	104705146	104705146	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:104705146C>T	uc021rcx.1	+	4	515	c.493C>T	c.(493-495)Ctt>Ttt	p.L165F	TXNRD1_uc021rcy.1_Missense_Mutation_p.L67F|TXNRD1_uc021rcz.1_Missense_Mutation_p.L15F|TXNRD1_uc021rda.1_Missense_Mutation_p.L15F|TXNRD1_uc021rdb.1_Missense_Mutation_p.L15F|TXNRD1_uc010swp.2_Intron|TXNRD1_uc010swq.2_Missense_Mutation_p.L65F|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Missense_Mutation_p.L81F|TXNRD1_uc001tkv.2_Non-coding_Transcript	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	165					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TGACTATGACCTTATCATCAT	0.443000														20			3		0	0	1	0	0
TMCO7	79613	broad.mit.edu	37	16	68893950	68893950	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:68893950C>T	uc002ewi.4	+	1	270	c.258C>T	c.(256-258)aaC>aaT	p.N86N	TMCO7_uc002ewh.3_Silent_p.N86N	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	86						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)		GGCCACAAAACTCTGTGGATG	0.433000														75			24		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106494237	106494237	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106494237C>T	uc021ser.1	-	2337		c.41415G>A								Parts of antibodies, mostly variable regions.																		TGAGCCTGCTCTTCAGAGATG	0.532000														96			15		0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205133001	205133001	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205133001G>A	uc001hbw.3	-	3	1471	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	DSTYK_uc001hbx.3_Silent_p.I469I|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	469						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TAAGTCGGGAGATGATGAGTT	0.507000														107			15		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645491	45645491	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:45645491C>T	uc003jok.3	-	1	670	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	215						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.M215L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTAAATAATTCATCTTGATCA	0.368000														59			16		0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124952521	124952521	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124952521G>A	uc003ehx.4	-	8	1535	c.1049C>T	c.(1048-1050)tCt>tTt	p.S350F	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.S350F|ZNF148_uc010hsa.3_Missense_Mutation_p.S350F|ZNF148_uc003eia.4_Missense_Mutation_p.S350F|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	350					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						AGTACTTGAAGAATAAAGAGG	0.388000														120			33		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508751	37508751	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:37508751G>A	uc021ppc.1	+	33	4042	c.3943G>A	c.(3943-3945)Gag>Aag	p.E1315K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E1315K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1371						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAGAAAAATGAGGAGATATT	0.269000														22			7		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666819	50666819	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:50666819C>T	uc001csb.2	+	6	1380	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	ELAVL4_uc001cry.3_Missense_Mutation_p.S360F|ELAVL4_uc001crz.3_Missense_Mutation_p.S357F|ELAVL4_uc001csa.3_Missense_Mutation_p.S374F|ELAVL4_uc001csc.3_Missense_Mutation_p.S357F|ELAVL4_uc010omz.2_Missense_Mutation_p.S362F	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	371	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TTGCAAGTTTCCTTTAAAACC	0.458000														62			20		0	0	1	0	0
AGPAT9	84803	broad.mit.edu	37	4	84519293	84519293	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:84519293C>T	uc003how.3	+	10	1304	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	AGPAT9_uc003hox.3_Silent_p.I362I|AGPAT9_uc003hoy.3_Silent_p.I362I	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	362					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				GCTGGGCCATCGTCTGTGACG	0.448000														76			31		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073120	17073120	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17073120G>A	uc002zlp.1	-	0	581	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	107					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.F107F(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCAGAACCACGAAGGCTGTGC	0.662000														64			20		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167094752	167094752	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:167094752C>T	uc010fpl.3	-	19	3961	c.3620G>A	c.(3619-3621)aGg>aAg	p.R1207K	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1218						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1207K(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GGTCTTTTTCCTTTCAATATA	0.294000														18			7		0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37936686	37936686	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:37936686G>A	uc003tfn.3	+	16	2131	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	587	NDK 3.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GGATCCTGAGGAAAACTAAAG	0.353000														41			14		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280446	152280446	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152280446G>A	uc001ezu.1	-	2	6952	c.6916C>T	c.(6916-6918)Cat>Tat	p.H2306Y		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2306	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTCTGCATGATGAGTGCCT	0.562000									Ichthyosis					451			153		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238249231	238249231	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:238249231C>T	uc002vwl.2	-	37	8613	c.8328G>A	c.(8326-8328)agG>agA	p.R2776R	COL6A3_uc002vwo.2_Silent_p.R2570R|COL6A3_uc010znj.1_Silent_p.R2169R|COL6A3_uc002vwj.2_Silent_p.R157R	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2776	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGTTCACCTTCCTGCCAATGC	0.562000														77			34		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78347272	78347272	+	Missense_Mutation	SNP	G	A	A	rs35879437		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:78347272G>A	uc003kfs.3	-	4	589	c.583C>T	c.(583-585)Cct>Tct	p.P195S	DMGDH_uc011cte.1_Missense_Mutation_p.P45S|DMGDH_uc011ctf.1_Intron|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	195					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AGAGAATAAGGATCAATGTGA	0.388000														98			41		0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116288845	116288845	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:116288845G>A	uc003pwi.1	-	3	1115	c.668C>T	c.(667-669)aCc>aTc	p.T223I		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	223					negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.K222N(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TTGGTCCACGGTTTTATACGA	0.388000														57			36		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100361804	100361804	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100361804G>A	uc003uwj.3	+	21	4417	c.4252G>A	c.(4252-4254)Gaa>Aaa	p.E1418K	ZAN_uc003uwk.3_Missense_Mutation_p.E1418K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1418					binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCCCTGGAGGGAACCCCACTT	0.617000														14			4		0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683752	159683752	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159683752C>T	uc001ftw.3	-	1	342	c.238G>A	c.(238-240)Gag>Aag	p.E80K	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	80	Pentaxin.			Missing (in Ref. 13; AA sequence).|YSIFSYATKRQDNEIL -> TVFSRMPPRDKTMRFF (in Ref. 4; CAA39671).	acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	ATGAGAATCTCATTGTCTTGT	0.453000														102			7		0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99378490	99378490	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:99378490G>A	uc001vno.3	-	3	209	c.132C>T	c.(130-132)ttC>ttT	p.F44F	SLC15A1_uc001vnp.1_Silent_p.F12F	NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	44					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CCCAGCTGATGAAATTTGTGA	0.522000														61			20		0	0	1	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10419190	10419190	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10419190G>A	uc002mnw.4	-	0	1044	c.168C>T	c.(166-168)gcC>gcT	p.A56A	FDX1L_uc002mnx.1_Non-coding_Transcript	NM_001103167	NP_001096637	P0C6A0	ZGLP1_HUMAN	Homo sapiens zinc finger, GATA-like protein 1 (ZGLP1), mRNA.	56					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GGAAGCACAGGGCGGTGACCG	0.667000														11			6		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587557	55587558	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55587557_55587558CC>TT	uc010rin.2	+	0	452_453	c.452_453CC>TT	c.(451-453)gcc>gTT	p.A151V		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GGATCCTATGCCTGGGGAGTCT	0.480000														167			23		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56400068	56400068	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56400068G>A	uc002ivx.4	-	8	2135	c.1264C>T	c.(1264-1266)Cgc>Tgc	p.R422C	BZRAP1_uc010dcs.3_Missense_Mutation_p.R362C|BZRAP1_uc010wnt.2_Missense_Mutation_p.R422C|LOC100506779_uc021uan.1_5'Flank	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	422						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGCTCTTGCGAAGGGCTGAG	0.657000														48			21		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57597283	57597283	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57597283G>A	uc001snd.3	+	69	11396	c.10930G>A	c.(10930-10932)Gag>Aag	p.E3644K		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3644	LDL-receptor class A 28.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGCAGCGACGAGGAGGCCTG	0.677000														7			4		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120740003	120740003	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:120740003C>T	uc003vjq.4	+	6	1220	c.773C>T	c.(772-774)cCa>cTa	p.P258L	C7orf58_uc003vjr.1_Missense_Mutation_p.P258L|C7orf58_uc003vjs.4_Missense_Mutation_p.P258L|C7orf58_uc003vjt.4_Missense_Mutation_p.P38L|C7orf58_uc010lkk.2_Missense_Mutation_p.P38L	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	258						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					GTCCTTGCTCCACATGAAACA	0.383000														76			18		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2942488	2942488	+	Missense_Mutation	SNP	G	A	A	rs145270510	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:2942488G>A	uc003bpc.3	+	10	1399	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	CNTN4_uc003bpb.1_Missense_Mutation_p.E26K|CNTN4_uc021wsg.1_Missense_Mutation_p.E354K|CNTN4_uc003bpd.1_Missense_Mutation_p.E354K|CNTN4_uc003bpe.3_Missense_Mutation_p.E26K|CNTN4_uc003bpf.3_Missense_Mutation_p.E26K	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	354	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAAAAATGGCGAACCTCTGCT	0.398000														79			29		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101731860	101731860	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:101731860G>A	uc001kqj.2	-	1	114	c.22C>T	c.(22-24)Cga>Tga	p.R8*		NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	8	SH3 1.				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)		AAAATGGCTCGAACCACTGAG	0.403000														103			29		0	0	1	0	0
C8orf47	203111	broad.mit.edu	37	8	99101746	99101747	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:99101746_99101747GG>AA	uc003yih.1	+	1	649_650	c.501_502GG>AA	c.(499-504)aaggac>aaAAac	p.D168N	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	168										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CAGTAGAGAAGGACTCTCTCAG	0.520000														48			4		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4249749	4249749	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:4249749C>T	uc003smx.3	+	37	5633	c.5494C>T	c.(5494-5496)Ctg>Ttg	p.L1832L	SDK1_uc010kso.3_Silent_p.L1088L|SDK1_uc003smy.3_Silent_p.L319L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1832	Fibronectin type-III 12.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAACGGCATCCTGCAGGGCTA	0.667000														58			10		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43947855	43947855	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:43947855G>A	uc010yny.2	+	15	2591	c.2508G>A	c.(2506-2508)aaG>aaA	p.K836K	PLEKHH2_uc002rtf.3_Silent_p.K835K	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	836	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding	p.K836N(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAATAGGAAAGACATTATATT	0.323000														152			59		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057615	9057615	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9057615G>A	uc002mkp.3	-	2	30035	c.29831C>T	c.(29830-29832)tCc>tTc	p.S9944F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9946	Ser-rich.|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						CATGGATGAGGAAGAGAGCCT	0.453000														231			85		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73491369	73491370	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73491369_73491370CC>TT	uc010wsa.2	+	19	2955_2956	c.2763_2764CC>TT	c.(2761-2766)tcccga>tcTTga	p.R922*	KIAA0195_uc002jnz.4_Nonsense_Mutation_p.R912*|KIAA0195_uc010wsb.2_Nonsense_Mutation_p.R552*|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	912					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCACAGTGTCCCGAGATGATGC	0.589000														31			9		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58533821	58533821	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:58533821C>A	uc002ybe.3	+	0	351	c.40C>A	c.(40-42)Ctt>Att	p.L14I	CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	14					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			gctgctgctgcttctagtgct	0.597000														29			7		2.7689e-08	2.77712e-08	1	1	0
ZNF461	92283	broad.mit.edu	37	19	37130142	37130142	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:37130142G>A	uc002oem.3	-	5	1333	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	ZNF461_uc002oen.3_Missense_Mutation_p.R338C|ZNF461_uc010xtj.2_Missense_Mutation_p.R346C	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	Homo sapiens zinc finger protein 461 (ZNF461), mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGATGTGAGCGATGCCTAAAA	0.418000														62			25		0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132888043	132888043	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:132888043C>T	uc010nrn.2	-	2	695	c.498G>A	c.(496-498)atG>atA	p.M166I	GPC3_uc004exe.2_Missense_Mutation_p.M166I|GPC3_uc011mvh.2_Missense_Mutation_p.M150I|GPC3_uc010nro.2_Missense_Mutation_p.M112I|GPC3_uc010nrp.2_Missense_Mutation_p.M38I	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	166						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ATTCATTGACCATGTCATCTA	0.458000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					56			84		0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178442297	178442297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:178442297C>T	uc001glq.3	+	17	4530	c.3766C>T	c.(3766-3768)Cgc>Tgc	p.R1256C	RASAL2_uc001glr.3_Missense_Mutation_p.R1115C|RASAL2_uc009wxc.3_Missense_Mutation_p.P639L	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	1115					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CATGCAGGTCCGCAATGGCAT	0.542000														78			26		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58067416	58067416	+	Silent	SNP	C	T	T	rs80356507		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58067416C>T	uc003djj.2	+	3	865	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	FLNB_uc010hne.2_Silent_p.L234L|FLNB_uc003djk.2_Silent_p.L234L|FLNB_uc010hnf.2_Silent_p.L234L|FLNB_uc003djl.2_Silent_p.L65L|FLNB_uc003djm.2_Silent_p.L65L	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	234	Actin-binding.|CH 2.		L -> V (in LRS1).		actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TATGACTTACCTGTCCCAGTT	0.527000														136			12		0	0	1	0	0
SLC43A1	8501	broad.mit.edu	37	11	57268309	57268309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57268309G>A	uc001nkk.3	-	4	526	c.408C>T	c.(406-408)ttC>ttT	p.F136F	SLC43A1_uc001nkl.3_Silent_p.F136F	NM_001198810	NP_001185739	O75387	LAT3_HUMAN	Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA.	136					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACAGCGCCAGGAATATCAACG	0.587000														27			12		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81743738	81743739	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:81743738_81743739CC>TT	uc010tvu.2	-	3	2114_2115	c.1916_1917GG>AA	c.(1915-1917)tgg>tAA	p.W639*	STON2_uc001xvk.1_Nonsense_Mutation_p.W639*|STON2_uc010tvt.2_Nonsense_Mutation_p.W436*	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	639	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGAGCTTGATCCACTTTGTGGT	0.530000														43			16		0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15651288	15651288	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15651288C>T	uc002nbh.4	+	7	866	c.699C>T	c.(697-699)atC>atT	p.I233I		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	233						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.I233I(2)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TCTCCGCTATCATTGAACTGA	0.557000														75			28		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370026	56370026	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56370026G>A	uc002qmd.4	+	2	1689	c.1267G>A	c.(1267-1269)Ggg>Agg	p.G423R	NLRP4_uc002qmf.3_Missense_Mutation_p.G348R|NLRP4_uc010etf.3_Missense_Mutation_p.G254R	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	423	NACHT.						ATP binding	p.G423W(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCGGAGAAATGGGGTTGTTGA	0.562000														99			53		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4281431	4281431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:4281431G>A	uc003smx.3	+	42	6276	c.6137G>A	c.(6136-6138)gGg>gAg	p.G2046E	SDK1_uc010kso.3_Missense_Mutation_p.G1302E|SDK1_uc003smy.3_Missense_Mutation_p.G533E|SDK1_uc003smz.3_Missense_Mutation_p.G106E	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	2046					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTAGGAAAGGGGATCTCCACC	0.607000														30			8		0	0	1	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478552	141478552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141478552C>T	uc003vwq.1	+	0	264	c.264C>T	c.(262-264)ttC>ttT	p.F88F		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	Homo sapiens taste receptor, type 2, member 4 (TAS2R4), mRNA.	88					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TGTTGTGTTTCATGTTTTTGG	0.418000														144			44		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33840377	33840377	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:33840377C>T	uc001zhi.3	+	8	857	c.787C>T	c.(787-789)Ctt>Ttt	p.L263F	RYR3_uc010bar.3_Missense_Mutation_p.L263F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	263	MIR 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCCAGGTCTCTTTGGAGAGT	0.493000														16			10		0	0	1	0	0
BLVRB	645	broad.mit.edu	37	19	40953902	40953902	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40953902G>A	uc002onw.2	-	4	645	c.515C>T	c.(514-516)cCc>cTc	p.P172L		NM_000713	NP_000704	P30043	BLVRB_HUMAN	Homo sapiens biliverdin reductase B (flavin reductase (NADPH)) (BLVRB), mRNA.	172					heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		NADH(DB00157)|Riboflavin(DB00140)	GACCCTTGAGGGCCCTCGTCC	0.562000														50			15		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16875962	16875962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16875962C>T	uc002neu.4	+	9	2791	c.2369C>T	c.(2368-2370)gCc>gTc	p.A790V	NWD1_uc002net.4_Missense_Mutation_p.A655V|NWD1_uc002nev.4_Missense_Mutation_p.A584V|NWD1_uc021uqg.1_Missense_Mutation_p.A655V	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	790							ATP binding	p.A790T(1)		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						GTCCGTGAAGCCCTCCAGCTC	0.617000														30			16		0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203798606	203798606	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203798606C>T	uc001hac.3	+	7	942	c.326C>T	c.(325-327)cCa>cTa	p.P109L	ZC3H11A_uc001had.3_Missense_Mutation_p.P109L|ZC3H11A_uc001hae.3_Missense_Mutation_p.P109L|ZC3H11A_uc001haf.3_Missense_Mutation_p.P109L|ZC3H11A_uc010pqm.2_Missense_Mutation_p.P55L|ZC3H11A_uc001hag.1_Missense_Mutation_p.P109L	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	109							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTGAGTCACCAGAAGAGGAA	0.448000														80			31		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13870918	13870918	+	Silent	SNP	C	T	T	rs141079124		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13870918C>T	uc003jfd.2	-	23	3834	c.3792G>A	c.(3790-3792)agG>agA	p.R1264R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1264	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I1263V(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTGCTCCTCCCTTATTTCTT	0.338000									Kartagener syndrome					59			15		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050067	42050067	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:42050067C>T	uc001cgz.4	-	3	1615	c.402G>A	c.(400-402)gtG>gtA	p.V134V	HIVEP3_uc001cha.4_Silent_p.V134V|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	134				FV -> LL (in Ref. 1; AAK01082).	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCCCAGGGGCCACGAAGGAGC	0.612000														107			52		0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16532066	16532066	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16532066G>A	uc001ayc.1	-	8	1685	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	ARHGEF19_uc009voo.1_5'UTR	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	516	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TGATCCTCTGGAAGGGCAGGA	0.647000														28			13		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50223468	50223468	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:50223468C>T	uc001zxu.3	-	15	1632	c.1490G>A	c.(1489-1491)gGg>gAg	p.G497E	ATP8B4_uc010ber.3_Missense_Mutation_p.G370E|ATP8B4_uc010ufd.2_Intron|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	497					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			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CACTAGAGCCCCTTCATCAGG	0.393000														49			11		0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144062345	144062345	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:144062345G>A	uc003wel.3	+	1	2701	c.2583G>A	c.(2581-2583)agG>agA	p.R861R	ARHGEF5_uc003wek.3_Silent_p.R861R|ARHGEF5_uc003wem.3_5'Flank	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	861					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCAGGGGGAGGAGCAGGAGCA	0.597000														134			15		0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55070823	55070823	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55070823C>T	uc001cxm.2	+	12	1487	c.1311C>T	c.(1309-1311)gcC>gcT	p.A437A	ACOT11_uc001cxj.2_Silent_p.A315A|ACOT11_uc001cxl.2_Silent_p.A437A	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	437	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TGGATGCAGCCCAGGCCTTCC	0.617000														63			19		0	0	1	0	0
C11orf42	160298	broad.mit.edu	37	11	6231278	6231278	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6231278G>A	uc001mcj.3	+	1	319	c.271G>A	c.(271-273)Ggt>Agt	p.G91S		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	Homo sapiens chromosome 11 open reading frame 42 (C11orf42), mRNA.	91										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATCTGAGGGTGCCTTCGC	0.622000														45			19		0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47812438	47812438	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:47812438G>A	uc002leq.4	-	3	1146	c.413C>T	c.(412-414)tCg>tTg	p.S138L	CXXC1_uc002lep.4_5'UTR|CXXC1_uc002ler.4_Missense_Mutation_p.S138L|CXXC1_uc010doy.3_Missense_Mutation_p.S138L	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	138					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TTTGTGGGGCGAAGCAGAGCC	0.632000														71			27		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459983	107459983	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:107459983G>A	uc002tdq.3	-	1	570	c.451C>T	c.(451-453)Cct>Tct	p.P151S	ST6GAL2_uc002tdr.3_Missense_Mutation_p.P151S|ST6GAL2_uc002tds.3_Missense_Mutation_p.P151S	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	151					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.F150L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCGGGGGAAGGGAATCCCAAT	0.607000														174			65		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82421702	82421702	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:82421702C>T	uc001dit.4	+	9	2105	c.1924C>T	c.(1924-1926)Ctt>Ttt	p.L642F	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.L642F|LPHN2_uc001div.3_Missense_Mutation_p.L642F|LPHN2_uc009wcd.3_Missense_Mutation_p.L642F|LPHN2_uc001diw.3_Missense_Mutation_p.L226F	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	655					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGCTGACAATCTTTTAGAACC	0.348000														68			12		0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30605092	30605092	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:30605092G>A	uc001iva.4	-	6	1330	c.1267C>T	c.(1267-1269)Cgt>Tgt	p.R423C	MTPAP_uc001ivb.4_Missense_Mutation_p.R553C	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.	423					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTCAAGTCACGAACAAATGTG	0.343000														39			12		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189864086	189864087	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189864086_189864087CC>TT	uc002uqj.1	+	29	2215_2216	c.2098_2099CC>TT	c.(2098-2100)ccc>TTc	p.P700F		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	700	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGAGCTGGTCCCCCTGGTCCC	0.475000														16			4		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73464772	73464772	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73464772G>A	uc001jrx.4	+	23	3222	c.2832G>A	c.(2830-2832)gtG>gtA	p.V944V	CDH23_uc001jry.3_Silent_p.V944V|CDH23_uc001jrz.3_Silent_p.V944V	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	946	Cadherin 9.		S -> G.		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						GCAGCGGCGTGGTGGTCACCA	0.667000														85			39		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	95679	95679	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000209.1:95679G>A	uc002quk.1	+	7	1120	c.1065G>A	c.(1063-1065)agG>agA	p.R355R	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_5'Flank	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	355							receptor activity										GATCTTCTAGGGAGACAACAG	0.507000														106			42		0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42195138	42195138	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42195138G>A	uc002xkv.3	+	0	402	c.183G>A	c.(181-183)atG>atA	p.M61I	SGK2_uc002xkr.3_Missense_Mutation_p.M1I|SGK2_uc010ggm.3_Missense_Mutation_p.M1I|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Missense_Mutation_p.M1I|SGK2_uc002xkq.1_Missense_Mutation_p.M1I	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	61					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCTACAGAATGAACTCTAGCC	0.597000														82			23		0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179526210	179526210	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:179526210C>T	uc003fki.1	-	12	1498	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	PEX5L_uc011bqd.1_Silent_p.G413G|PEX5L_uc011bqe.1_Silent_p.G264G|PEX5L_uc011bqf.1_Silent_p.G348G|PEX5L_uc003fkj.1_Silent_p.G421G|PEX5L_uc010hxd.1_Silent_p.G454G|PEX5L_uc011bqg.1_Silent_p.G432G|PEX5L_uc011bqh.1_Silent_p.G397G	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	456					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ATTCCTTCACCCCTTCCAGAA	0.398000														81			33		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513605	99513605	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:99513605G>A	uc003dti.1	+	2	991	c.863G>A	c.(862-864)gGa>gAa	p.G288E	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G287E|COL8A1_uc003dth.1_Missense_Mutation_p.G287E	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	287	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGCCCCCTGGGAAAGCCAGGG	0.667000														32			9		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579405	33579405	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:33579405G>A	uc001rll.1	-	1	474	c.177C>T	c.(175-177)gtC>gtT	p.V59V	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	59						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AGCTGACAACGACAGCTAACA	0.363000														17			16		0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148577674	148577674	+	Missense_Mutation	SNP	G	A	A	rs144356818		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:148577674G>A	uc003ewl.3	+	10	1162	c.1139G>A	c.(1138-1140)cGa>cAa	p.R380Q		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	380					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTTGAACTTCGAGATACAGGC	0.498000														88			28		0	0	1	0	0
UCP3	7352	broad.mit.edu	37	11	73715533	73715533	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:73715533G>A	uc001our.3	-	4	994	c.639C>T	c.(637-639)ctC>ctT	p.L213L	UCP3_uc001ous.2_Silent_p.L213L	NM_003356	NP_003347	P55916	UCP3_HUMAN	Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), nuclear gene encoding mitochondrial protein, transcript variant long, mRNA.	213					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					CCTCACCAGTGAGCAGGTGGT	0.582000														56			16		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307510	140307510	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140307510C>T	uc003lih.2	+	0	1209	c.1033C>T	c.(1033-1035)Ctt>Ttt	p.L345F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.L345F	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	370	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTGACTCTTTCGAACCC	0.527000														115			48		0	0	1	0	0
VTCN1	79679	broad.mit.edu	37	1	117712753	117712753	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:117712753G>A	uc001ehb.3	-	1	178	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	VTCN1_uc021osn.1_5'UTR|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_5'UTR|VTCN1_uc009whf.2_Missense_Mutation_p.L25F	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	25						integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		CCAATGATGAGTGCAATTGCT	0.398000														115			50		0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3788206	3788206	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:3788206G>A	uc010sen.1	-	5	971	c.399C>T	c.(397-399)gcC>gcT	p.A133A	EFCAB4B_uc001qmj.2_Silent_p.A133A	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	133					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CATGGCGCTGGGCCACCTGTT	0.557000														95			15		0	0	1	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28333369	28333369	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28333369C>T	uc010jrc.3	+	6	1257	c.924C>T	c.(922-924)gcC>gcT	p.A308A	ZKSCAN3_uc003nle.4_Silent_p.A308A|ZKSCAN3_uc003nlf.4_Silent_p.A160A	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.	308					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AGAAAAATGCCACAGGAGGGA	0.502000														53			20		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10250079	10250079	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10250079G>A	uc002gmk.1	-	12	1271	c.1181C>T	c.(1180-1182)tCt>tTt	p.S394F	MYH13_uc010vvf.1_Missense_Mutation_p.S69F	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	394	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CATTTCTGCAGAATTCAGTCC	0.473000														21			16		0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115760054	115760054	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:115760054G>A	uc011lwy.2	-	4	1725	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TGCTGCGGCTGAAGGTTTTTC	0.403000														71			8		0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36563655	36563655	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:36563655C>T	uc001bzv.2	-	1	1634	c.1627G>A	c.(1627-1629)Ggc>Agc	p.G543S	COL8A2_uc001bzw.2_Missense_Mutation_p.G478S	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	543	Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGTGCAAGCCTGCGATGCCA	0.726000														20			8		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129901135	129901135	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:129901135G>A	uc001lke.3	-	12	9164	c.8969C>T	c.(8968-8970)tCc>tTc	p.S2990F	MKI67_uc001lkf.3_Missense_Mutation_p.S2630F|MKI67_uc009yav.1_Missense_Mutation_p.S2565F|MKI67_uc009yaw.1_Missense_Mutation_p.S2140F	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2990					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)				TGGGGGCAGGGAAGTGTTGCT	0.537000														85			40		0	0	1	0	0
CTSL2	1515	broad.mit.edu	37	9	99798833	99798833	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:99798833G>A	uc010msi.3	-	4	800	c.593C>T	c.(592-594)tCt>tTt	p.S198F	CTSL2_uc004awt.3_Missense_Mutation_p.S198F|CTSL2_uc004awu.3_Missense_Mutation_p.S143F|CTSL2_uc010msj.2_Missense_Mutation_p.S143F|CTSL2_uc010msk.3_Missense_Mutation_p.S143F	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	198						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				GGATTCCTCAGAGTCCAGGCC	0.488000														32			13		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15326904	15326904	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:15326904G>A	uc002rcc.1	-	49	6699	c.6673C>T	c.(6673-6675)Cgc>Tgc	p.R2225C	NBAS_uc002rcb.1_Missense_Mutation_p.R65C|NBAS_uc010exl.1_Missense_Mutation_p.R1297C|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	2225										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TACAAAGAGCGACACATTTTC	0.428000														112			39		0	0	1	0	0
NIPA1	123606	broad.mit.edu	37	15	23049282	23049282	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:23049282G>A	uc001yvc.3	-	4	562	c.537C>T	c.(535-537)atC>atT	p.I179I	NIPA1_uc001yvd.3_Silent_p.I9I|NIPA1_uc001yve.3_Silent_p.I104I	NM_144599	NP_001135747	Q7RTP0	NIPA1_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA.	179					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		GGGCCGGCGCGATCCAGAAGA	0.607000														23			5		0	0	1	0	0
TFCP2	7024	broad.mit.edu	37	12	51504689	51504689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51504689G>A	uc001rxw.3	-	4	1256	c.535C>T	c.(535-537)Cct>Tct	p.P179S	TFCP2_uc001rxv.2_Missense_Mutation_p.P179S|TFCP2_uc009zlx.2_Missense_Mutation_p.P179S|TFCP2_uc009zly.1_Missense_Mutation_p.P81S	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.	179	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						CTCTTTGCAGGGTCCCACAGG	0.403000														138			41		0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370539	35370539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:35370539C>T	uc001byc.3	-	0	446	c.446G>A	c.(445-447)gGg>gAg	p.G149E		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	149					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TGGCCCGGGCCCTGCCCCTGC	0.627000														25			12		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555713	155555713	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:155555713C>T	uc002tyv.1	+	0	621	c.426C>T	c.(424-426)gcC>gcT	p.A142A	KCNJ3_uc010zce.1_Silent_p.A142A|KCNJ3_uc021vrh.1_Silent_p.A142A	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	142					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.A142A(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGACGGAGGCCACCATCGGCT	0.572000														52			20		0	0	1	0	0
SS18	6760	broad.mit.edu	37	18	23612462	23612462	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:23612462A>G	uc002kvm.3	-	9	1209	c.1131T>C	c.(1129-1131)ccT>ccC	p.P377P	SS18_uc002kvn.3_Silent_p.P346P|SS18_uc010xbf.2_Silent_p.P295P|SS18_uc010xbg.2_Silent_p.P294P|SS18_uc010xbh.2_Silent_p.P294P|SS18_uc010xbi.2_Silent_p.P354P	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA.	377	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTGGGTAGTTAGGATACTGAG	0.498000			T	"""SSX1,  SSX2"""	synovial sarcoma									105			24		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9119182	9119182	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:9119182C>T	uc003jek.2	-	14	2565	c.1853G>A	c.(1852-1854)cGg>cAg	p.R618Q		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	618	TSP type-1 2.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGAGCGCTGCCGCACCTGGAA	0.652000														25			8		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10433021	10433021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10433021C>T	uc010coi.3	-	23	3105	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E993K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	993					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCAATGGTTTCATCCAGACCT	0.502000														107			87		0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93125795	93125795	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:93125795C>T	uc001yap.3	+	6	2468	c.2316C>T	c.(2314-2316)tcC>tcT	p.S772S	RIN3_uc010auk.3_Silent_p.S434S|RIN3_uc001yaq.3_Silent_p.S697S|RIN3_uc001yar.1_Silent_p.S434S|RIN3_uc001yas.1_Silent_p.S434S	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	772	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TCTACGACTCCATGGCCCTCG	0.572000														95			28		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8689378	8689378	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:8689378C>T	uc002wnb.3	+	11	1232	c.1229C>T	c.(1228-1230)tCg>tTg	p.S410L	PLCB1_uc010zrb.1_Missense_Mutation_p.S309L|PLCB1_uc002wna.3_Missense_Mutation_p.S410L|PLCB1_uc002wnc.1_Missense_Mutation_p.S309L	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	410	PI-PLC X-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						ATTCTCCTTTCGTTTGAGAAC	0.358000														36			21		0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834932	61834932	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61834932G>A	uc002yeh.3	-	3	654	c.360C>T	c.(358-360)ttC>ttT	p.F120F	YTHDF1_uc011aaq.2_Silent_p.F70F	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	120										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GGAAAAAATTGAACCTGTGCT	0.542000														64			23		0	0	1	0	0
SPAG8	26206	broad.mit.edu	37	9	35811403	35811403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35811403G>A	uc003zye.3	-	1	755	c.640C>T	c.(640-642)Cct>Tct	p.P214S	SPAG8_uc003zyg.3_Missense_Mutation_p.P214S	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	Homo sapiens sperm associated antigen 8 (SPAG8), transcript variant 2, mRNA.	214						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			AACCCTGGAGGAATACAGGGG	0.597000														118			25		0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85327800	85327800	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:85327800C>T	uc002bld.3	+	3	2230	c.1894C>T	c.(1894-1896)Ctg>Ttg	p.L632L	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	632					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAAGTGCAGCCTGCTCCGGCA	0.592000														78			33		0	0	1	0	0
RCN1	5954	broad.mit.edu	37	11	32125929	32125929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:32125929G>A	uc010reb.2	+	5	1173	c.907G>A	c.(907-909)Gag>Aag	p.E303K	RCN1_uc021qfp.1_Missense_Mutation_p.E137K|RCN1_uc001mtk.3_Missense_Mutation_p.E137K	NM_002901	NP_002892	Q15293	RCN1_HUMAN	Homo sapiens reticulocalbin 1, EF-hand calcium binding domain (RCN1), mRNA.	303	EF-hand 6.					endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					GCTAACTAAAGAGGAAATATT	0.398000														19			10		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38591833	38591833	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38591833C>T	uc021wvo.1	-	26	6082	c.6030G>A	c.(6028-6030)agG>agA	p.R2010R	SCN5A_uc021wvk.1_Silent_p.R1977R|SCN5A_uc021wvl.1_Silent_p.R1956R|SCN5A_uc021wvm.1_Silent_p.R1992R|SCN5A_uc021wvn.1_Silent_p.R2009R|SCN5A_uc021wvp.1_Silent_p.R2010R|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.R1822R|SCN5A_uc021wvi.1_Silent_p.R1876R	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	2010					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ACTCACGGTCCCTGTCCGGAG	0.567000														88			39		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059542	11059542	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:11059542C>T	uc010hdq.3	+	3	663	c.252C>T	c.(250-252)atC>atT	p.I84I		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	84					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCTTCCTGATCCCCTATTTCC	0.602000														77			19		0	0	1	0	0
FBXL12	54850	broad.mit.edu	37	19	9922101	9922101	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9922101G>A	uc002mme.3	-	2	694	c.452C>T	c.(451-453)cCc>cTc	p.P151L	FBXL12_uc002mmd.3_Missense_Mutation_p.P98L|FBXL12_uc002mmf.3_Missense_Mutation_p.P98L|FBXL12_uc002mmg.3_Missense_Mutation_p.P98L	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	151							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						TTCAAGCAGGGGCAGCACGGT	0.677000														66			24		0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34061368	34061368	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34061368C>T	uc021wco.1	+	12	2026	c.1379C>T	c.(1378-1380)tCt>tTt	p.S460F	CEP250_uc010zve.2_5'UTR|CEP250_uc010zvd.2_Non-coding_Transcript	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	460					G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAGGTGGACTCTCTCAGCAAG	0.597000														17			5		0	0	1	0	0
EED	8726	broad.mit.edu	37	11	85967484	85967484	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:85967484C>T	uc001pbp.3	+	4	948	c.482C>T	c.(481-483)cCt>cTt	p.P161L	EED_uc010rtm.2_Missense_Mutation_p.P161L|EED_uc001pbq.3_Missense_Mutation_p.P161L|EED_uc001pbr.3_Missense_Mutation_p.P161L|EED_uc010rtn.1_5'Flank	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	161	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				ACGAGCCATCCTCTGCTGGCT	0.358000														74			10		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2622075	2622075	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2622075G>T	uc009zdu.1	+	8	1628	c.1315G>T	c.(1315-1317)Gat>Tat	p.D439Y	CACNA1C_uc001qkc.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qjz.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkd.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qke.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkf.2_Missense_Mutation_p.D439Y|CACNA1C_uc009zdw.1_Missense_Mutation_p.D439Y|CACNA1C_uc001qkg.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkh.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkl.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkj.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkk.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkn.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkm.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qko.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkp.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkq.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qku.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkr.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qks.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qkt.2_Missense_Mutation_p.D439Y|CACNA1C_uc009zdv.1_Missense_Mutation_p.D436Y|CACNA1C_uc001qkb.2_Missense_Mutation_p.D439Y|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Missense_Mutation_p.D175Y|CACNA1C_uc009zdy.1_Missense_Mutation_p.D64Y|CACNA1C_uc001qkv.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	439	Binding to the beta subunit (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGGCTACCTGGATTGGATCAC	0.537000														14			6		0.00116845	0.00116956	1	1	0
DUSP12	11266	broad.mit.edu	37	1	161722918	161722918	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161722918C>T	uc001gbo.3	+	4	739	c.728C>T	c.(727-729)cCt>cTt	p.P243L		NM_007240	NP_009171	Q9UNI6	DUS12_HUMAN	Homo sapiens dual specificity phosphatase 12 (DUSP12), mRNA.	243					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGAAGTGGACCTATAGCCTTT	0.433000														136			56		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124095622	124095622	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124095622C>T	uc010saf.2	+	0	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	75						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TGTACTATTTCCTCAGTGGTC	0.463000														155			65		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43944846	43944846	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:43944846C>T	uc010skx.2	-	1	319	c.319G>A	c.(319-321)Gtg>Atg	p.V107M		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	107						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)		CCCAAGTGCACCTCGGTGTAG	0.662000														35			7		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159650951	159650951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:159650951G>A	uc010kjv.3	+	9	1485	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	FNDC1_uc010kjw.1_Intron	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	429	Fibronectin type-III 4.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCAGCCTGGGGAACGCTATCT	0.517000														137			108		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234878920	234878920	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234878920C>T	uc002vvh.3	+	16	2245	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F	TRPM8_uc010fyj.3_Intron	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	735						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCTCCCCCTTCGTGGTCTTCT	0.547000														232			111		0	0	1	0	0
ZNF92	168374	broad.mit.edu	37	7	64864215	64864215	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:64864215C>T	uc003ttz.3	+	3	1331	c.1188C>T	c.(1186-1188)ccC>ccT	p.P396P	ZNF92_uc003tua.3_Silent_p.P327P|ZNF92_uc010kzu.3_Silent_p.P364P|ZNF92_uc003tub.3_Silent_p.P320P|ZNF92_uc022afd.1_5'Flank	NM_152626	NP_009070	Q03936	ZNF92_HUMAN	Homo sapiens zinc finger protein 92 (ZNF92), transcript variant 2, mRNA.	396						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				GAGAAAAACCCTACAAATGTG	0.368000														78			33		0	0	1	0	0
KLK1	3816	broad.mit.edu	37	19	51322476	51322476	+	Missense_Mutation	SNP	C	T	T	rs138173062		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51322476C>T	uc002ptk.1	-	4	802	c.763G>A	c.(763-765)Gag>Aag	p.E255K	KLK1_uc010ycg.1_Non-coding_Transcript	NM_002257	NP_002248	P06870	KLK1_HUMAN	Homo sapiens kallikrein 1 (KLK1), mRNA.	255	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGGTGTCCTCGATCCACTTC	0.542000														96			15		0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538680	152538680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152538680G>A	uc021oyz.1	-	0	5	c.5C>T	c.(4-6)tCc>tTc	p.S2F	LCE3E_uc001faa.3_Missense_Mutation_p.S2F	NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	Homo sapiens late cornified envelope 3E (LCE3E), mRNA.	2					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CTGCTGGCAGGACATCTTGGC	0.542000														55			23		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5282933	5282933	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:5282933G>A	uc010zqw.2	-	1	916	c.908C>T	c.(907-909)aCt>aTt	p.T303I	PROKR2_uc010zqx.2_Missense_Mutation_p.T303I|PROKR2_uc010zqy.2_Missense_Mutation_p.T303I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	303						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CACGAACACAGTGGGGAAGAA	0.552000										HNSCC(71;0.22)				65			44		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53694250	53694250	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:53694250C>T	uc003dgv.4	+	4	877	c.714C>T	c.(712-714)gcC>gcT	p.A238A	CACNA1D_uc003dgu.4_Silent_p.A238A|CACNA1D_uc003dgy.4_Silent_p.A238A	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	238					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATGTCAAAGCCCTCCGTGCCT	0.453000														75			25		0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109723224	109723224	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:109723224G>A	uc001toe.4	-	7	891	c.786C>T	c.(784-786)tcC>tcT	p.S262S	FOXN4_uc009zvg.3_Silent_p.S59S|FOXN4_uc001tof.4_Silent_p.S82S	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	262					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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			large_intestine(5)|lung(9)|ovary(2)	16						AGCCCTTGCGGGAGGAGCCGC	0.602000														53			19		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767500	105767500	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:105767500C>T	uc004bbs.2	+	4	657	c.587C>T	c.(586-588)tCa>tTa	p.S196L		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	196	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				aaaaaggaTTCAAACAAAGGC	0.373000														30			6		0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74044000	74044000	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74044000G>A	uc002jqk.1	-	9	1164	c.1129C>T	c.(1129-1131)Caa>Taa	p.Q377*	SRP68_uc010wsu.1_Nonsense_Mutation_p.Q276*|SRP68_uc002jql.1_Nonsense_Mutation_p.Q339*|SRP68_uc002jqj.1_Nonsense_Mutation_p.Q38*	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	Homo sapiens signal recognition particle 68kDa (SRP68), mRNA.	377					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TGCAAGTATTGAAGATTAGAC	0.284000														111			35		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21631030	21631030	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:21631030G>A	uc003svc.3	+	13	2533	c.2502G>A	c.(2500-2502)gtG>gtA	p.V834V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	834	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAAAAACGTGAAGGTGATCC	0.607000									Kartagener syndrome					56			21		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234878915	234878916	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234878915_234878916CC>TT	uc002vvh.3	+	16	2240_2241	c.2200_2201CC>TT	c.(2200-2202)ccc>TTc	p.P734F	TRPM8_uc010fyj.3_Intron	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	734						integral to membrane		p.S733S(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTTCACCTCCCCCTTCGTGGTC	0.540000														250			91		0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32221810	32221810	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32221810G>A	uc001btn.3	-	3	982	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C	BAI2_uc010ogp.2_Missense_Mutation_p.R198C|BAI2_uc010ogq.2_Missense_Mutation_p.R210C|BAI2_uc001bto.3_Missense_Mutation_p.R210C|BAI2_uc001btq.1_Missense_Mutation_p.R198C|BAI2_uc010ogr.1_Missense_Mutation_p.R198C	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	210					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CCGGCAGCGCGGCCACACTCC	0.647000														51			7		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21216896	21216896	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21216896C>T	uc003zor.1	-	0	415	c.409G>A	c.(409-411)Gag>Aag	p.E137K	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	137					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATGGAGTCCTCATTCATCAGG	0.468000														294			31		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38538831	38538831	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:38538831G>A	uc002yvz.3	+	32	4420	c.4315G>A	c.(4315-4317)Gga>Aga	p.G1439R	TTC3_uc011aee.1_Missense_Mutation_p.G1129R|TTC3_uc002ywa.3_Missense_Mutation_p.G1439R|TTC3_uc002ywb.3_Missense_Mutation_p.G1439R|TTC3_uc010gnf.3_Missense_Mutation_p.G1204R|TTC3_uc002ywc.3_Missense_Mutation_p.G1129R|TTC3_uc002ywd.1_Missense_Mutation_p.G503R	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1439					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TGAGCACTGTGGAAATTCTAA	0.423000														68			22		0	0	1	0	0
FADS2	9415	broad.mit.edu	37	11	61596039	61596039	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:61596039C>T	uc001nsl.1	+	0	327	c.177C>T	c.(175-177)gtC>gtT	p.V59V	FADS2_uc001nsj.2_Intron|FADS2_uc010rlo.1_Intron|FADS2_uc001nsk.3_Silent_p.V59V	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	59	Cytochrome b5 heme-binding.				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	GCCAGCGGGTCATCGGGCACT	0.622000											OREG0021015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			12		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55196641	55196641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55196641G>A	uc003pcm.1	+	1	237	c.151G>A	c.(151-153)Gat>Aat	p.D51N		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	51						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGCCTGCAATGATTCAGGTAA	0.318000														31			11		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30998884	30998884	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:30998884C>T	uc021vfn.1	-	2	331	c.299G>A	c.(298-300)gGa>gAa	p.G100E	CAPN13_uc021vfm.1_Missense_Mutation_p.G100E|CAPN13_uc002rnp.1_Missense_Mutation_p.G100E	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	100	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.L99L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGTCAAGGATCCCAGTGCTGC	0.527000														33			17		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6948179	6948179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6948179C>T	uc001qra.1	+	14	1952	c.1918C>T	c.(1918-1920)Cgc>Tgc	p.R640C	GPR162_uc001qrb.1_Missense_Mutation_p.R448C|GNB3_uc001qrc.3_5'Flank|GNB3_uc001qrd.3_5'Flank|GNB3_uc009zfe.3_5'Flank	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						GGTGCGTCCTCGCTGTGGGCG	0.657000														26			10		0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105215200	105215200	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105215200C>T	uc001kxe.2	-	1	1000	c.860G>A	c.(859-861)aGg>aAg	p.R287K	CALHM2_uc001kxd.1_5'Flank	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	Homo sapiens calcium homeostasis modulator 1 (CALHM1), mRNA.	287						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CAGCTTCTCCCTTTCCTCCTC	0.647000														27			15		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117043518	117043518	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:117043518G>A	uc011mtp.2	-	5	1254	c.1121C>T	c.(1120-1122)tCg>tTg	p.S374L	KLHL13_uc004eqk.3_Missense_Mutation_p.S320L|KLHL13_uc004eql.3_Missense_Mutation_p.S371L|KLHL13_uc011mtn.2_Missense_Mutation_p.S211L|KLHL13_uc011mto.2_Missense_Mutation_p.S365L|KLHL13_uc011mtq.2_Missense_Mutation_p.S355L|KLHL13_uc004eqm.3_Missense_Mutation_p.S329L|KLHL13_uc022cde.1_Missense_Mutation_p.S355L	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	371					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.S371L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGGGGCTAACGATTTCCACTC	0.488000														30			41		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121767694	121767694	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:121767694G>A	uc003ksw.1	+	5	1419	c.1213G>A	c.(1213-1215)Gtg>Atg	p.V405M	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Missense_Mutation_p.V405M|SNCAIP_uc003ksy.1_Missense_Mutation_p.V39M|SNCAIP_uc003ksx.1_Missense_Mutation_p.V452M|SNCAIP_uc003ksz.1_Missense_Mutation_p.V39M|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Missense_Mutation_p.V39M|SNCAIP_uc003kta.1_Missense_Mutation_p.V37M|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.V99M|SNCAIP_uc010jcx.1_Missense_Mutation_p.V345M	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	405					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ACGCTGGATGGTGAGCGAAAC	0.403000														41			8		0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	34000534	34000534	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:34000534G>A	uc003and.4	-	5	1081	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	LARGE_uc003ane.4_Silent_p.L168L|LARGE_uc010gwp.3_Silent_p.L168L|LARGE_uc011ame.2_Silent_p.L100L|LARGE_uc011amf.2_Silent_p.L168L	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	168					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TGGAAGTGCAGAGGGTTCCGT	0.547000														62			18		0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52361784	52361784	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:52361784C>T	uc003joy.3	+	14	2063	c.1920C>T	c.(1918-1920)gcC>gcT	p.A640A	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Silent_p.A564A|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	640					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CTATTGGTGCCTTTGGACAAG	0.458000														98			38		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24390596	24390596	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24390596C>T	uc001bin.4	-	29	3751	c.3588G>A	c.(3586-3588)ggG>ggA	p.G1196G	MYOM3_uc001bil.4_Silent_p.G89G|MYOM3_uc001bim.4_Silent_p.G853G	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1196	Ig-like C2-type 3.							p.R1195Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGTCGTCCTCCCCTCGATCGT	0.552000														99			34		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183412	197183412	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:197183412C>T	uc002utm.1	-	8	2385	c.2202G>A	c.(2200-2202)ggG>ggA	p.G734G	HECW2_uc002utl.1_Silent_p.G378G	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	734					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCCAGACCTCCCCCAGCTCCT	0.652000														32			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058581	9058581	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9058581G>A	uc002mkp.3	-	2	29069	c.28865C>T	c.(28864-28866)cCc>cTc	p.P9622L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9624	Ser-rich.|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						TCTGCTAGAGGGCATAACTTC	0.522000														53			20		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465377	10465377	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10465377C>T	uc003wtc.3	-	3	6460	c.6231G>A	c.(6229-6231)gaG>gaA	p.E2077E		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2077					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)		CTGGGTGGGCCTCCCCTTCTG	0.642000														244			26		0	0	1	0	0
DEFB114	245928	broad.mit.edu	37	6	49928133	49928133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:49928133G>A	uc011dwp.2	-	1	82	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C		NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN	Homo sapiens defensin, beta 114 (DEFB114), mRNA.	28					defense response to bacterium	extracellular region		p.R28C(2)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TTGGTGCAACGATCAGCATTC	0.353000														51			13		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102709863	102709863	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102709863C>T	uc001phj.1	-	6	1112	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	DD413629_uc021qpi.1_5'Flank	NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	349	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AAACGAGGTCCTTGCTAGTAA	0.373000														74			52		0	0	1	0	0
FAM107A	11170	broad.mit.edu	37	3	58552332	58552332	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58552332C>T	uc003dko.3	-	4	1127	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	FAM107A_uc003dkm.3_Missense_Mutation_p.E140K|FAM107A_uc003dkn.3_Missense_Mutation_p.E140K|FAM107A_uc010hnm.3_Missense_Mutation_p.E168K|FAM107A_uc003dkp.1_3'UTR	NM_007177	NP_009108	O95990	F107A_HUMAN	Homo sapiens family with sequence similarity 107, member A (FAM107A), transcript variant 1, mRNA.	140					regulation of cell growth	nucleus	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		TCTCTCTCTTCGCTGGTCAGT	0.602000														103			10		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881562	69881562	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:69881562C>T	uc001jnm.4	+	2	552	c.367C>T	c.(367-369)Cga>Tga	p.R123*	MYPN_uc001jnl.1_Nonsense_Mutation_p.R123*|MYPN_uc001jnn.4_Intron|MYPN_uc001jno.4_Nonsense_Mutation_p.R123*|MYPN_uc001jnp.1_Nonsense_Mutation_p.R123*|MYPN_uc009xps.3_Nonsense_Mutation_p.R123*|MYPN_uc009xpt.3_Nonsense_Mutation_p.R123*|MYPN_uc010qit.2_5'UTR|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	123	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GGATAACCCTCGAAGTCCCAC	0.433000														67			6		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121485641	121485641	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121485641G>A	uc001pxx.3	+	40	5610	c.5481G>A	c.(5479-5481)ggG>ggA	p.G1827G	SORL1_uc010rzp.1_Silent_p.G673G|SORL1_uc010rzq.1_Silent_p.G442G	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1827	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTGACTTGGGGGATAGCCCTC	0.512000														107			47		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045550	42045551	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:42045550_42045551GG>AA	uc001cgz.4	-	3	6131_6132	c.4918_4919CC>TT	c.(4918-4920)ccg>TTg	p.P1640L	HIVEP3_uc001cha.4_Missense_Mutation_p.P1640L|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1640					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAAACCCCCGGAAGGTTGGGG	0.490000														62			38		0	0	1	0	0
AMN1	196394	broad.mit.edu	37	12	31850770	31850770	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:31850770G>A	uc001rkq.4	-	3	604	c.438C>T	c.(436-438)atC>atT	p.I146I	AMN1_uc001rko.4_Silent_p.I128I|AMN1_uc010skc.2_Silent_p.I128I|AMN1_uc009zjs.3_Non-coding_Transcript|AMN1_uc009zjt.1_Non-coding_Transcript	NM_001113402	NP_001106873	Q8IY45	AMN1_HUMAN	Homo sapiens antagonist of mitotic exit network 1 homolog (S. cerevisiae) (AMN1), transcript variant 1, mRNA.	146										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			CACCTAAATCGATGATCTTTA	0.423000														108			16		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38949552	38949552	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38949552G>A	uc021wvy.1	-	9	1560	c.1361C>T	c.(1360-1362)aCc>aTc	p.T454I		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	454					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTTTTTTGGGGTAAAATATGA	0.388000														94			36		0	0	1	0	0
HIBCH	26275	broad.mit.edu	37	2	191117026	191117026	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:191117026G>A	uc002uru.3	-	7	820	c.525C>T	c.(523-525)ttC>ttT	p.F175F	HIBCH_uc002urv.3_Silent_p.F175F	NM_014362	NP_055177	Q6NVY1	HIBCH_HUMAN	Homo sapiens 3-hydroxyisobutyryl-CoA hydrolase (HIBCH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	175					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	p.F175L(2)		NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCACATCAGGGAACAGTCCTG	0.363000														38			15		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38934840	38934840	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38934840G>A	uc002oit.3	+	5	606	c.476G>A	c.(475-477)gGa>gAa	p.G159E	RYR1_uc002oiu.3_Missense_Mutation_p.G159E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	159	MIR 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGTCTGAAGGAGAAAAGGTC	0.602000														46			26		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6189094	6189094	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6189094C>T	uc001amb.2	-	22	3534	c.3423G>A	c.(3421-3423)aaG>aaA	p.K1141K	CHD5_uc001alz.2_5'UTR|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1141	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCATCACCTTCTTGTTCTGGC	0.647000														36			24		0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614655	247614655	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247614655G>A	uc010pyx.2	-	0	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F210F(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCACCAACACGAAGAAGGCCA	0.562000														48			23		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121498457	121498457	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121498457C>T	uc001pxx.3	+	46	6687	c.6558C>T	c.(6556-6558)ttC>ttT	p.F2186F	SORL1_uc010rzp.1_Silent_p.F1032F|SORL1_uc010rzq.1_Silent_p.F801F	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2186					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCGCAATCTTCTCCTCTGGGG	0.607000														38			7		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324495	152324495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152324495G>A	uc001ezw.4	-	2	5840	c.5767C>T	c.(5767-5769)Cat>Tat	p.H1923Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1923							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)			GTCTGTCCATGAGTAGTTTGG	0.517000														263			63		0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32260977	32260977	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32260977C>T	uc021yvt.1	-	22	1646	c.1473G>A	c.(1471-1473)gaG>gaA	p.E491E	C6orf10_uc011dpx.2_Intron|C6orf10_uc021yvs.1_Silent_p.E408E|C6orf10_uc011dpz.2_Silent_p.E489E|C6orf10_uc021yvu.1_Silent_p.E489E|C6orf10_uc021yvv.1_Silent_p.E475E	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	491	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CCTCAAAACTCTCCTTCTTTT	0.373000														227			13		0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56270365	56270365	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:56270365C>T	uc003xsf.3	+	1	966	c.934C>T	c.(934-936)Ctg>Ttg	p.L312L		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	312						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGCCACCTTTCTGGAAAGTGC	0.478000														47			18		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75991451	75991451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:75991451C>T	uc003kek.3	+	31	4388	c.4166C>T	c.(4165-4167)tCc>tTc	p.S1389F	IQGAP2_uc011csv.2_Missense_Mutation_p.S885F|IQGAP2_uc003kel.3_Missense_Mutation_p.S885F|IQGAP2_uc010izw.1_Missense_Mutation_p.S90F	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1389					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CACGTGTCATCCGAAAATAAA	0.418000														71			32		0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	313789	313789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:313789C>T	uc001qhz.3	-	4	954	c.290G>A	c.(289-291)gGc>gAc	p.G97D	SLC6A12_uc001qia.3_Missense_Mutation_p.G97D|SLC6A12_uc001qib.3_Missense_Mutation_p.G97D|SLC6A12_uc009zdh.2_Missense_Mutation_p.G97D|SLC6A12_uc009zdi.1_Non-coding_Transcript	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	97					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)			GGTGTATTGGCCCAACGCCAC	0.582000														48			17		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2972186	2972186	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:2972186C>T	uc003smv.3	-	10	1887	c.1553G>A	c.(1552-1554)cGa>cAa	p.R518Q		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	518					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)		ATCTGATGTTCGCTTCAGGCT	0.493000			Mis		DLBCL									25			7		0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76980987	76980987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:76980987C>T	uc001oyf.3	-	6	670	c.419G>A	c.(418-420)aGg>aAg	p.R140K		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	140					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	p.R140G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						ATGTGTCATCCTGTATCTTCT	0.333000														31			9		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50118201	50118201	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:50118201G>A	uc003jon.4	+	17	2009	c.1827G>A	c.(1825-1827)ctG>ctA	p.L609L	PARP8_uc011cpz.2_Silent_p.L501L|PARP8_uc003joo.3_Silent_p.L609L|PARP8_uc003jop.3_Silent_p.L567L	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	609						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TGAAAGCACTGGATAGCATAA	0.323000														103			43		0	0	1	0	0
MPZL2	10205	broad.mit.edu	37	11	118134847	118134847	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118134847G>A	uc001psn.3	-	0	405	c.22C>T	c.(22-24)Cgt>Tgt	p.R8C	MPZL2_uc001pso.3_Missense_Mutation_p.R8C	NM_005797	NP_658911	O60487	MPZL2_HUMAN	Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA.	8					anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGCACCGCACGAGTAGAGCTC	0.577000														71			6		0	0	1	0	0
ZNF200	7752	broad.mit.edu	37	16	3274129	3274129	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3274129G>A	uc002cuj.2	-	4	1583	c.951C>T	c.(949-951)ttC>ttT	p.F317F	ZNF200_uc002cum.3_Silent_p.F316F|ZNF200_uc002cuk.2_Silent_p.F317F|ZNF200_uc010bti.2_Silent_p.F316F|ZNF200_uc002cui.2_Silent_p.F316F|ZNF200_uc002cul.3_Silent_p.F316F	NM_003454	NP_932354	P98182	ZN200_HUMAN	Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA.	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						AATTCTGACGGAAGTTTTTTC	0.393000														81			118		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43120225	43120225	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43120225G>A	uc001zqo.2	-	5	877	c.438C>T	c.(436-438)aaC>aaT	p.N146N	TTBK2_uc010bcy.2_Silent_p.N77N|TTBK2_uc001zqp.3_Silent_p.N146N	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	146	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCATAGCGAAGTTCGACTAGA	0.343000														63			9		0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175598335	175598335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:175598335G>A	uc003ity.1	-	6	1324	c.821C>T	c.(820-822)tCa>tTa	p.S274L	GLRA3_uc003itz.1_Missense_Mutation_p.S274L	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	274					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GATCCAGAATGAAACCCAGGA	0.478000														33			11		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89385059	89385059	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89385059G>A	uc010upo.1	+	4	1092	c.718G>A	c.(718-720)Gag>Aag	p.E240K	ACAN_uc002bmx.3_Missense_Mutation_p.E240K|ACAN_uc010upp.1_Missense_Mutation_p.E240K|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	240					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)			AGACACCAACGAGACCTATGA	0.607000														109			31		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87092091	87092091	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87092091C>T	uc003uiv.1	-	3	345	c.269G>A	c.(268-270)gGa>gAa	p.G90E	ABCB4_uc003uiw.1_Missense_Mutation_p.G90E|ABCB4_uc003uix.1_Missense_Mutation_p.G90E|ABCB4_uc003uiy.3_Missense_Mutation_p.G90E	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	90	ABC transmembrane type-1 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GGAGAAGTTTCCTGCAGTATC	0.388000														63			16		0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39798741	39798741	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39798741G>A	uc002okw.2	-	1	1848	c.1848C>T	c.(1846-1848)gcC>gcT	p.A616A		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	616						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CGACGGCGGGGGCAGCCTGGG	0.751000														15			4		0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14424275	14424275	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:14424275G>A	uc002yiy.3	+	4		c.3090G>A			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		ATTCAAGAGGGGGGAAGAtta	0.383000														14			3		0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2876142	2876142	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:2876142C>T	uc002lwp.1	+	2	269	c.182C>T	c.(181-183)tCt>tTt	p.S61F	ZNF556_uc002lwq.3_Missense_Mutation_p.S61F	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T60N(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		CAGGATACTTCTGGAGAAAAA	0.368000														191			53		0	0	1	0	0
KIF2A	3796	broad.mit.edu	37	5	61659025	61659025	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:61659025G>A	uc003jsy.4	+	12	1451	c.1140G>A	c.(1138-1140)agG>agA	p.R380R	KIF2A_uc003jsz.4_Silent_p.R380R|KIF2A_uc003jsx.4_Silent_p.R360R|KIF2A_uc010iwp.3_Silent_p.R361R|KIF2A_uc010iwq.3_Silent_p.R183R	NM_004520	NP_004511	O00139	KIF2A_HUMAN	Homo sapiens kinesin heavy chain member 2A (KIF2A), transcript variant 1, mRNA.	380	Kinesin-motor.				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TGCTAAACAGGAAAACAAAAT	0.378000														13			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075484	9075484	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9075484C>T	uc002mkp.3	-	2	12166	c.11962G>A	c.(11962-11964)Gaa>Aaa	p.E3988K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3990	Ser-rich.|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						ATTGCTTGTTCCCTGGTGGAG	0.488000														35			15		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541169	55541169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55541169C>T	uc003xsd.1	+	3	4875	c.4727C>T	c.(4726-4728)tCt>tTt	p.S1576F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1576					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAGAGTCCTCTCCTGATTTA	0.383000														69			17		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36893670	36893670	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36893670C>T	uc003cgj.3	-	12	4832	c.4584G>A	c.(4582-4584)agG>agA	p.R1528R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1528					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTGAGTTTTCCTTTTATTCC	0.428000														48			21		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199125	155199125	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:155199125G>A	uc021xge.1	-	22	4991	c.4714C>T	c.(4714-4716)Cgg>Tgg	p.R1572W	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.R1534W	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1572					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACCAGTGCCCGGGGGAGCTGA	0.512000														98			23		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432962	104432962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104432962C>T	uc004bbp.2	-	2	2333	c.1732G>A	c.(1732-1734)Gga>Aga	p.G578R	GRIN3A_uc004bbq.1_Missense_Mutation_p.G578R	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	578					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ATGCAATATCCATAGCAGCAC	0.418000														51			37		0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35453185	35453185	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:35453185G>A	uc001byh.3	-	15	3726	c.3498C>T	c.(3496-3498)ttC>ttT	p.F1166F	LOC653160_uc001byd.4_5'Flank|ZMYM6NB_uc001bye.3_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc021olg.1_Silent_p.F479F|ZMYM6_uc010oht.2_Silent_p.F1069F	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	1166					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAAATGAAGggaacatgtcat	0.333000														38			17		0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129744079	129744079	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:129744079G>A	uc001qfg.3	-	18	2404	c.2283C>T	c.(2281-2283)tcC>tcT	p.S761S	NFRKB_uc001qfi.3_Silent_p.S736S|NFRKB_uc001qfh.3_Silent_p.S759S|NFRKB_uc010sbw.1_Silent_p.S746S|NFRKB_uc009zcr.3_Silent_p.S22S	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	736	Ser-rich.				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CAGGTGGAGGGGAGATGGGAA	0.557000														83			28		0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532972	113532972	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113532972C>T	uc001tuk.1	+	6	1848	c.1512C>T	c.(1510-1512)acC>acT	p.T504T		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	504					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						ATACCCAGACCATCCGCATCG	0.642000														102			7		0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5247821	5247821	+	Missense_Mutation	SNP	G	A	A	rs63750556		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5247821G>A	uc001mae.1	-	1	351	c.301C>T	c.(301-303)Cct>Tct	p.P101S	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	101			P -> L (in Brigham; O(2) affinity up).|P -> R (in New Mexico).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	AAGTTCTCAGGATCCACGTGC	0.502000									Sickle Cell Trait					78			23		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489348	133489348	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:133489348C>T	uc002ttp.3	-	16	5779	c.5405G>A	c.(5404-5406)aGg>aAg	p.R1802K	NCKAP5_uc002ttq.3_Missense_Mutation_p.R483K	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1802							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTGAAGAGGCCTCATCCCTCT	0.517000														50			26		0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141310388	141310388	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:141310388C>T	uc011chi.2	-	15	2041	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	CLGN_uc003iii.3_Missense_Mutation_p.R608Q	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	608					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TTAGTCCTTTCGTACTCTTCT	0.373000														68			30		0	0	1	0	0
C8orf47	203111	broad.mit.edu	37	8	99101478	99101478	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:99101478C>T	uc003yih.1	+	1	381	c.233C>T	c.(232-234)cCc>cTc	p.P78L	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	78										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GGTGTTAAACCCCTCCAAGAA	0.527000														113			30		0	0	1	0	0
PI16	221476	broad.mit.edu	37	6	36930864	36930864	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:36930864C>T	uc021yzd.1	+	5	969	c.746C>T	c.(745-747)tCa>tTa	p.S249L	PI16_uc003omz.1_Intron|PI16_uc003ona.3_Missense_Mutation_p.S249L|PI16_uc011dts.1_Missense_Mutation_p.S20L	NM_001199159	NP_001186088	Q6UXB8	PI16_HUMAN	Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 2, mRNA.	249						extracellular region|integral to membrane	peptidase inhibitor activity	p.V248D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACAGAGGTCTCAGGCTCCCTG	0.577000														155			9		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975912	20975912	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20975912C>T	uc010vbe.2	-	52	9294	c.9294G>A	c.(9292-9294)gcG>gcA	p.A3098A	DNAH3_uc010vbd.2_Silent_p.A533A	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3098	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A3098A(3)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCAGTTTATTCGCCTTCTCCA	0.468000														107			43		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80722519	80722519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:80722519G>A	uc001szd.3	+	34	4253	c.4247G>A	c.(4246-4248)cGa>cAa	p.R1416Q		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTTTATCCACGAGACTGTAAG	0.378000														25			13		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129704356	129704356	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:129704356G>A	uc021zfb.1	+	34	5154	c.5049G>A	c.(5047-5049)aaG>aaA	p.K1683K	LAMA2_uc003qbn.3_Silent_p.K1683K|LAMA2_uc003qbo.3_Silent_p.K1683K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1683	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATTCATTAAGGAGCTTGCCC	0.458000														16			10		0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61924237	61924237	+	Missense_Mutation	SNP	G	A	A	rs61740172	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:61924237G>A	uc001xfn.3	+	8	1423	c.1118G>A	c.(1117-1119)aGa>aAa	p.R373K	PRKCH_uc010tsa.2_Missense_Mutation_p.R212K	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	373	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		ATGCTTGCAAGAGTAAAAGAA	0.488000														193			15		0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6428018	6428018	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6428018C>T	uc001qnr.3	+	11	1531	c.1383C>T	c.(1381-1383)ctC>ctT	p.L461L	PLEKHG6_uc001qns.3_Silent_p.L461L|PLEKHG6_uc010sew.2_Silent_p.L461L|PLEKHG6_uc010sex.2_Silent_p.L429L	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	461	PH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TGGAGAAGCTCGTGTGCCAAC	0.582000														46			12		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140769799	140769799	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140769799C>T	uc003lkc.2	+	0	2348	c.2348C>T	c.(2347-2349)tCt>tTt	p.S783F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	805					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)			GGTGATTCATCTGGGGCCTTA	0.388000														237			36		0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72368614	72368614	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72368614C>T	uc021ucp.1	+	3	1264	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	GPR142_uc010wqy.2_Missense_Mutation_p.R422W	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	422						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CAAGACTTTCCGGGCCACTGT	0.617000														60			25		0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121561077	121561077	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:121561077C>T	uc010mdg.3	-	4	1484	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N		NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	420	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGGAGAGGTCCCTGCTGGTC	0.522000														61			16		0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239010604	239010604	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:239010604C>T	uc002vxq.4	+	1	427	c.317C>T	c.(316-318)tCc>tTc	p.S106F		NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	106										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TCGGGCGTCTCCCCGCTGCAC	0.706000														13			7		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32012969	32012969	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32012969C>T	uc003nzl.2	-	31	10937	c.10735G>A	c.(10735-10737)Ggc>Agc	p.G3579S	TNXB_uc003nzg.1_Missense_Mutation_p.G10S|TNXB_uc003nzh.1_Missense_Mutation_p.G48S	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3626					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCAAAGGGGCCCTGGGCCACG	0.647000														40			15		0	0	1	0	0
KLK7	5650	broad.mit.edu	37	19	51485632	51485632	+	Silent	SNP	G	A	A	rs113100315		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51485632G>A	uc002puo.3	-	1	126	c.24C>T	c.(22-24)ccC>ccT	p.P8P	KLK7_uc002pup.3_Silent_p.P8P|KLK7_uc021uyj.1_Missense_Mutation_p.P51S|KLK7_uc010eok.3_Intron	NM_139277	NP_001193982	P49862	KLK7_HUMAN	Homo sapiens kallikrein-related peptidase 7 (KLK7), transcript variant 2, mRNA.	8					epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		AGATCTGCAGGGGCAGGAGAA	0.592000														9			4		0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471878	47471878	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:47471878C>T	uc001rpm.3	-	2	1563	c.908G>A	c.(907-909)gGg>gAg	p.G303E	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.G303E|AMIGO2_uc001rpl.3_Missense_Mutation_p.G303E|AMIGO2_uc021qxg.1_Missense_Mutation_p.G303E	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	303	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		p.G303V(2)|p.G303W(1)|p.V302V(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CAGTCTTTCCCCGACCTGAGC	0.483000														153			18		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71535177	71535177	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:71535177C>T	uc002atb.1	+	3	733	c.654C>T	c.(652-654)gtC>gtT	p.V218V	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	218	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCACCAGGTCCCCCAACATG	0.602000														85			34		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49428229	49428229	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49428229G>A	uc001rta.4	-	36	10471	c.10471C>T	c.(10471-10473)Cgt>Tgt	p.R3491C		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3491	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGGTTGGGACGAGGCTGGGAG	0.587000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				12			9		0	0	1	0	0
RPRD1B	58490	broad.mit.edu	37	20	36676878	36676878	+	Missense_Mutation	SNP	C	T	T	rs140300358		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36676878C>T	uc002xho.4	+	2	812	c.410C>T	c.(409-411)cCc>cTc	p.P137L		NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1B (RPRD1B), mRNA.	137										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						AGCCCTCCCCCCAAAGGTAGA	0.478000														64			16		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283247	152283247	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152283247C>T	uc001ezu.1	-	2	4151	c.4115G>A	c.(4114-4116)gGc>gAc	p.G1372D	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1372	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCCAATGCCTGAGTGTCT	0.537000									Ichthyosis					560			213		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915756	39915756	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39915756C>T	uc010xuz.2	+	18	4308	c.3983C>T	c.(3982-3984)cCc>cTc	p.P1328L	PLEKHG2_uc010xuy.2_Intron|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.P1106L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	1328	Poly-Pro.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCACCACCTCCCCCAGCCAGG	0.741000														14			4		0	0	1	0	0
ADSL	158	broad.mit.edu	37	22	40762483	40762483	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:40762483C>T	uc003ayp.4	+	12	1471	c.1412C>T	c.(1411-1413)cCa>cTa	p.P471L	ADSL_uc003ays.4_Missense_Mutation_p.P412L	NM_000026	NP_000017	P30566	PUR8_HUMAN	Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA.	471					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CTGTTAAAACCATATGAAAGC	0.358000														49			22		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123971151	123971151	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:123971151C>T	uc001lfv.3	+	8	7571	c.7211C>T	c.(7210-7212)gCt>gTt	p.A2404V	TACC2_uc001lfw.3_Missense_Mutation_p.A550V|TACC2_uc009xzx.3_Missense_Mutation_p.A2359V|TACC2_uc010qtv.2_Missense_Mutation_p.A2408V|TACC2_uc001lfx.3_Missense_Mutation_p.A108V|TACC2_uc001lfy.3_Missense_Mutation_p.A108V|TACC2_uc001lfz.3_Missense_Mutation_p.A482V|TACC2_uc001lga.3_Missense_Mutation_p.A482V|TACC2_uc009xzy.3_Missense_Mutation_p.A482V|TACC2_uc001lgb.3_Missense_Mutation_p.A439V|TACC2_uc010qtw.1_Missense_Mutation_p.A499V	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2404						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)				CCAGCCAGTGCTATGGAAGCC	0.542000														94			25		0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73100164	73100164	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73100164C>T	uc002jmr.3	+	5	1625	c.1253C>T	c.(1252-1254)gCc>gTc	p.A418V	SLC16A5_uc002jmt.3_Missense_Mutation_p.A418V|SLC16A5_uc002jmu.3_Missense_Mutation_p.A418V|SLC16A5_uc010wrt.2_Missense_Mutation_p.A458V	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	418					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	AGCTTCTACGCCCTGCAGAAG	0.567000														108			18		0	0	1	0	0
EAF2	55840	broad.mit.edu	37	3	121591511	121591511	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121591511C>T	uc003een.3	+	4	711	c.612C>T	c.(610-612)tcC>tcT	p.S204S	EAF2_uc003eeo.3_Silent_p.S74S	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	204	Necessary for transactivation activity.|Ser-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	p.S204S(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		ATTGCAAATCCTCTACTTCTG	0.393000														125			21		0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100154749	100154749	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:100154749G>A	uc001dsg.3	+	6	1376	c.933G>A	c.(931-933)gaG>gaA	p.E311E		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	311					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GTCTTTCAGAGGAAAGGGGAA	0.443000														83			15		0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931954	150931954	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:150931954G>A	uc003eyr.1	-	2	629	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.P51S|P2RY14_uc021xfz.1_Missense_Mutation_p.P51S	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	51						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTAGAGCTGGGCACGTAAAAG	0.438000														96			30		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511765	61511765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61511765G>A	uc002ydr.2	-	15	5855	c.5543C>T	c.(5542-5544)cCc>cTc	p.P1848L	DIDO1_uc002yds.2_Missense_Mutation_p.P1848L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1848	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCCCCATGGGGATCCTTGCG	0.607000														117			13		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121981045	121981045	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121981045C>T	uc003eew.4	+	3	1601	c.1163C>T	c.(1162-1164)tCg>tTg	p.S388L	CASR_uc003eev.4_Missense_Mutation_p.S388L	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	388					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	p.S388S(1)		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)	AGCAACAGCTCGACAGCCTTC	0.488000														60			9		0	0	1	0	0
PRRT2	112476	broad.mit.edu	37	16	29824855	29824855	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:29824855C>T	uc002dud.2	+	1	781	c.480C>T	c.(478-480)ctC>ctT	p.L160L	BOLA2_uc010bzb.1_Intron|AK097472_uc002duc.1_5'Flank|PRRT2_uc002due.4_Silent_p.L160L|PRRT2_uc002duf.1_Silent_p.L160L|C16orf53_uc002dug.4_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	Homo sapiens proline-rich transmembrane protein 2 (PRRT2), transcript variant 1, mRNA.	160	Pro-rich.				response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						AACCAGAGCTCCCTACCCAGG	0.632000														28			12		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544596	82544596	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82544596G>A	uc003uhx.2	-	6	12995	c.12706C>T	c.(12706-12708)Ctc>Ttc	p.L4236F	PCLO_uc003uhv.2_Missense_Mutation_p.L4236F|PCLO_uc010lec.3_Missense_Mutation_p.L1201F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4167	Ser-rich.				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						TCTTGAAGGAGCCTTGCCCTG	0.398000														41			13		0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56417497	56417497	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56417497C>T	uc001sjb.1	+	2	289	c.130C>T	c.(130-132)Cct>Tct	p.P44S	IKZF4_uc010sqa.1_Intron|IKZF4_uc001sjc.1_Missense_Mutation_p.P44S|IKZF4_uc001sjd.1_Intron|IKZF4_uc009zoi.1_Intron|IKZF4_uc001sje.1_5'Flank	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	Homo sapiens IKAROS family zinc finger 4 (Eos) (IKZF4), mRNA.	44					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGATTTCTTGCCTCAGGCCCA	0.448000														31			10		0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32474867	32474867	+	Missense_Mutation	SNP	C	T	T	rs150636128		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:32474867C>T	uc002roi.3	-	3	2327	c.2066G>A	c.(2065-2067)aGc>aAc	p.S689N	NLRC4_uc021vfq.1_Missense_Mutation_p.S689N|NLRC4_uc002roj.2_Missense_Mutation_p.S689N|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	689					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			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)					CAGCCTGAGGCTTGTGGCAGA	0.468000														92			34		0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95057176	95057176	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:95057176C>T	uc001ydm.2	+	4	1191	c.981C>T	c.(979-981)ttC>ttT	p.F327F	SERPINA3_uc001ydo.4_5'Flank	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	327					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GTAACGTCTTCACCTCCCATG	0.522000														78			30		0	0	1	0	0
MTHFD2	10797	broad.mit.edu	37	2	74438352	74438352	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74438352C>T	uc002skk.3	+	5	776	c.697C>T	c.(697-699)Cga>Tga	p.R233*	MTHFD2_uc002skj.3_Nonsense_Mutation_p.R131*|MTHFD2_uc010yro.2_Nonsense_Mutation_p.R131*|MTHFD2_uc010yrp.2_Nonsense_Mutation_p.R69*	NM_006636	NP_006627	P13995	MTDC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase (MTHFD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	233					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AATATCTCATCGATATACTCC	0.398000														127			39		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12618853	12618853	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:12618853G>A	uc002gno.2	+	2	438	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	MYOCD_uc002gnn.2_Missense_Mutation_p.E47K	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	47					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACGTCCAGCTGAATTCCATGA	0.418000														26			20		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85981972	85981972	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:85981972C>T	uc010qmc.2	-	3	1395	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	LRIT2_uc001kcy.3_Missense_Mutation_p.D453N	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	453						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CCACCAGCATCTCTGCCTGTT	0.597000														94			35		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55138596	55138596	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:55138596C>T	uc003han.4	+	8	1604	c.1273C>T	c.(1273-1275)Cat>Tat	p.H425Y	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.H319Y|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	425	Ig-like C2-type 5.				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			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)	CGATGATCACCATGGCTCAAC	0.468000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				94			28		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132529451	132529451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:132529451C>T	uc001ujn.3	+	36	6889	c.6737C>T	c.(6736-6738)cCt>cTt	p.P2246L	EP400_uc021rgq.1_Missense_Mutation_p.P2245L|EP400_uc001ujm.3_Missense_Mutation_p.P2165L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2282					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AAGCTGCCCCCTGTGTACGTG	0.627000														45			27		0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133787240	133787240	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:133787240G>A	uc004bzz.3	-	4	1130	c.885C>T	c.(883-885)ttC>ttT	p.F295F	FIBCD1_uc011mcc.2_Silent_p.F295F	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	295	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		AGCCCCGGAAGAAGTTCACGG	0.677000														8			5		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40367848	40367848	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40367848G>A	uc002omp.4	-	28	13120	c.13112C>T	c.(13111-13113)tCc>tTc	p.S4371F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4371	TIL 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGTGCAGGGGACGGACAGCT	0.622000														46			28		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121747930	121747930	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:121747930G>A	uc010flp.3	+	12	4470	c.4440G>A	c.(4438-4440)caG>caA	p.Q1480Q	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Silent_p.Q1152Q|GLI2_uc002tmu.4_Silent_p.Q1135Q	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1480					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGGCCTGTCAGGACAGCATCC	0.632000														100			34		0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122618396	122618396	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:122618396C>T	uc001ubq.3	+	8	1702	c.1594C>T	c.(1594-1596)Ccc>Tcc	p.P532S	MLXIP_uc001ubr.3_Missense_Mutation_p.P283S|MLXIP_uc001ubs.1_Missense_Mutation_p.P139S|MLXIP_uc001ubt.3_Missense_Mutation_p.P139S	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CACCCGGCCTCCCCAGCCACG	0.612000														19			6		0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239025621	239025621	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:239025621G>A	uc002vxq.4	+	4	1043	c.933G>A	c.(931-933)gcG>gcA	p.A311A	ESPNL_uc010fyw.3_Intron	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	311										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CAGACCTGGCGGAGTACCATG	0.677000														17			10		0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6527981	6527981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6527981G>A	uc001anp.1	-	20	3644	c.3146C>T	c.(3145-3147)cCc>cTc	p.P1049L	PLEKHG5_uc001ann.1_Missense_Mutation_p.P1009L|PLEKHG5_uc001ano.1_Missense_Mutation_p.P1028L|PLEKHG5_uc001anq.1_Intron|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.P533L|PLEKHG5_uc009vma.1_Missense_Mutation_p.P812L|PLEKHG5_uc010nzr.1_Missense_Mutation_p.P1041L|PLEKHG5_uc001ank.1_Missense_Mutation_p.P972L|PLEKHG5_uc009vmb.1_Intron|PLEKHG5_uc001anl.1_Missense_Mutation_p.P972L|PLEKHG5_uc001anm.1_Missense_Mutation_p.P972L	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	1028					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTGGTGGGGGCTCAGGCTG	0.672000														8			5		0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31487759	31487759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31487759C>T	uc003ajl.2	+	10	1799	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	SMTN_uc003ajk.2_Missense_Mutation_p.R520W|SMTN_uc003ajm.2_Missense_Mutation_p.R520W|SMTN_uc011ale.2_Missense_Mutation_p.R574W|SMTN_uc011alf.2_Missense_Mutation_p.R576W|SMTN_uc003ajn.2_Missense_Mutation_p.R512W|SMTN_uc011alg.2_Intron|SMTN_uc003ajo.2_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.2_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	520					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GACCCTGGCTCGGCTGGGCAG	0.662000														17			14		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116285273	116285273	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116285273G>A	uc004bhq.3	+	17	2031	c.1822G>A	c.(1822-1824)Gac>Aac	p.D608N	RGS3_uc004bhr.3_Missense_Mutation_p.D496N|RGS3_uc004bhs.3_Missense_Mutation_p.D498N|RGS3_uc004bht.3_Missense_Mutation_p.D327N|RGS3_uc010muy.3_Missense_Mutation_p.D327N|RGS3_uc004bhu.3_Missense_Mutation_p.D234N	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	608					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGCCGCTGCGACGTCCTGAG	0.582000														118			12		0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139175174	139175174	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:139175174G>A	uc003qif.2	+	9	1406	c.1081G>A	c.(1081-1083)Ggt>Agt	p.G361S	ECT2L_uc021zfx.1_Missense_Mutation_p.G361S|ECT2L_uc011edq.1_Missense_Mutation_p.G292S	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	361					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.G361C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CTATAAAATTGGTGTTAAAAA	0.363000			"""N, Splice, Mis"""		ETP ALL									82			50		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70964887	70964887	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:70964887C>T	uc003pfg.4	-	22	1736	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E	COL9A1_uc003pfe.4_Missense_Mutation_p.G99E|COL9A1_uc003pff.4_Missense_Mutation_p.G283E	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	526	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACCAGGAATTCCTCTAGCACC	0.438000														90			55		0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203420344	203420344	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:203420344C>T	uc002uzf.4	+	11	3104	c.1956C>T	c.(1954-1956)acC>acT	p.T652T	BMPR2_uc010ftr.3_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	652					BMP signaling pathway|anterior/posterior pattern formation|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TTGGGCCAACCCCTGTCTGCT	0.443000														64			18		0	0	1	0	0
RTBDN	83546	broad.mit.edu	37	19	12939478	12939479	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12939478_12939479GG>AA	uc002mvj.3	-	4	771_772	c.453_454CC>TT	c.(451-456)tgccag>tgTTag	p.Q152*	RTBDN_uc002mvh.1_Nonsense_Mutation_p.Q152*|RTBDN_uc002mvi.3_Nonsense_Mutation_p.Q120*|RTBDN_uc021upo.1_Nonsense_Mutation_p.Q130*	NM_031429	NP_001074466	Q9BSG5	RTBDN_HUMAN	Homo sapiens retbindin (RTBDN), transcript variant 2, mRNA.	120						extracellular region		p.Q152Q(1)		kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						TACCAGGCCTGGCAGAGCTCCT	0.653000														36			9		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55266593	55266593	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55266593C>T	uc003pcm.1	+	8	1213	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	376						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TACAGAACTTCCAGAATATCA	0.358000														68			16		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130509442	130509442	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130509442G>A	uc004bsc.3	-	5	1390	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S	SH2D3C_uc010mxo.3_Silent_p.S256S|SH2D3C_uc004bry.3_Silent_p.S258S|SH2D3C_uc004brz.4_Silent_p.S62S|SH2D3C_uc011mak.2_Silent_p.S62S|SH2D3C_uc004bsb.3_Silent_p.S348S|SH2D3C_uc004bsa.3_Silent_p.S259S	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	416					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGTAGGCAGGGGAGCTAGGGC	0.597000														88			16		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766365	19766365	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19766365G>A	uc002nnh.4	-	9	1396	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	ATP13A1_uc002nnf.4_5'Flank|ATP13A1_uc002nng.3_Silent_p.I338I	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	456	Poly-Ala.				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAGCTGCAGCGATGGCAAACA	0.607000														31			18		0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103260388	103260388	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:103260388G>A	uc001tjq.1	-	4	968	c.495C>T	c.(493-495)gcC>gcT	p.A165A	PAH_uc010swc.1_Silent_p.A165A	NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	165					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)	GGTAGTTGTAGGCAATGTCAG	0.488000														83			11		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56092314	56092314	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56092314C>T	uc001shh.3	-	6	1277	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	ITGA7_uc001shg.3_Missense_Mutation_p.E349K|ITGA7_uc010sps.2_Missense_Mutation_p.E256K|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Missense_Mutation_p.E236K	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	393					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCAGCTCTTCTTGGCGCTCA	0.612000														71			38		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4968016	4968016	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4968016G>A	uc010qys.2	-	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	105					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)		ATCCATGAATGAAGAATTCCT	0.443000														154			53		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520398	131520398	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:131520398G>A	uc021voy.1	+	0	753	c.753G>A	c.(751-753)ggG>ggA	p.G251G	FAM123C_uc002trw.2_Silent_p.G251G|FAM123C_uc010fmv.2_Silent_p.G251G|FAM123C_uc010fms.1_Silent_p.G251G|FAM123C_uc010fmt.1_Silent_p.G251G|FAM123C_uc010fmu.1_Silent_p.G251G	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	251										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CGGGTTGTGGGGAGGTGTTCG	0.637000														79			29		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75022292	75022292	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75022292G>A	uc001xqa.3	-	3	1322	c.935C>T	c.(934-936)tCc>tTc	p.S312F		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	312					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGGGCGTTGGAAGAGAGCTG	0.657000														78			13		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155953	151155953	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151155953G>A	uc011bod.2	-	5	6396	c.6396C>T	c.(6394-6396)gtC>gtT	p.V2132V	IGSF10_uc011bob.2_Silent_p.V159V|IGSF10_uc011boc.2_Silent_p.V111V	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2132	Ig-like C2-type 7.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGTTAAGTGGACCTTCATTT	0.443000														51			7		0	0	1	0	0
NRG2	9542	broad.mit.edu	37	5	139232060	139232060	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:139232060G>A	uc003lev.2	-	8	1755	c.1525C>T	c.(1525-1527)Cct>Tct	p.P509S	NRG2_uc003lew.2_Missense_Mutation_p.P503S|NRG2_uc003lex.2_Missense_Mutation_p.P501S|NRG2_uc003ley.2_Missense_Mutation_p.P495S|NRG2_uc021yed.1_Missense_Mutation_p.P435S	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	501					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGAGAAGGAGAACAGGAG	0.532000														87			11		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269763	150269763	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150269763G>A	uc003whl.3	+	2	687	c.605G>A	c.(604-606)aGg>aAg	p.R202K	GIMAP4_uc011kuu.2_Missense_Mutation_p.R63K|GIMAP4_uc011kuv.2_Missense_Mutation_p.R216K	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	202							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGGCCCAGAGGGCACAGTTG	0.547000														97			27		0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155528041	155528041	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155528041G>A	uc003ioj.3	-	7	1086	c.945C>T	c.(943-945)gcC>gcT	p.A315A	FGG_uc003iog.3_Silent_p.A315A	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	315	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGCCATCAAAGGCATCTCCAG	0.463000														95			56		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688486	26688487	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26688486_26688487CC>TT	uc003acb.3	+	1	405_406	c.209_210CC>TT	c.(208-210)ccc>cTT	p.P70L	SEZ6L_uc003acd.3_Missense_Mutation_p.P70L|SEZ6L_uc011akd.2_Missense_Mutation_p.P70L|SEZ6L_uc003ace.3_Missense_Mutation_p.P70L|SEZ6L_uc011akc.2_Missense_Mutation_p.P70L|SEZ6L_uc003acc.3_Missense_Mutation_p.P70L|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	70						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GTAACAGCGCCCCCCAGTTCCT	0.634000														42			8		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354135	57354135	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:57354135C>T	uc003xsz.2	-	1	581	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	PENK_uc003xta.3_Missense_Mutation_p.R167Q	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	167					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GCTACGCTCTCGGTTGTCCCC	0.527000														136			8		0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502502	91502502	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:91502502G>A	uc001tbm.3	-	1	644	c.255C>T	c.(253-255)gcC>gcT	p.A85A		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	85					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CATTCTCAAAGGCCTTTTCAT	0.378000														45			21		0	0	1	0	0
C15orf54	400360	broad.mit.edu	37	15	39544521	39544521	+	Missense_Mutation	SNP	C	T	T	rs140379180	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:39544521C>T	uc001zkg.2	+	1	553	c.185C>T	c.(184-186)cCt>cTt	p.P62L	C15orf54_uc021sjb.1_Missense_Mutation_p.P62L	NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	Homo sapiens chromosome 15 open reading frame 54 (C15orf54), mRNA.	62										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		ACGGAGCTCCCTCTCAGGTTC	0.443000														289			109		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232704	21232704	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21232704C>T	uc002red.3	-	25	7164	c.7036G>A	c.(7036-7038)Gag>Aag	p.E2346K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2346					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCATACCTCTCGATTAACTCA	0.373000														90			23		0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241569451	241569451	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241569451G>A	uc010fzi.2	+	5	1047	c.175G>A	c.(175-177)Ggc>Agc	p.G59S	GPR35_uc010fzh.2_Missense_Mutation_p.G59S|GPR35_uc021vze.1_Missense_Mutation_p.G28S|GPR35_uc002vzs.2_Missense_Mutation_p.G28S	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	28						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CGCCTACTTGGGCGTCCTGCT	0.627000														64			19		0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131308971	131308971	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:131308971C>T	uc003kvx.2	-	11	1300	c.1191G>A	c.(1189-1191)cgG>cgA	p.R397R	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Silent_p.R362R|ACSL6_uc003kvy.2_Silent_p.R397R|ACSL6_uc003kvz.2_Silent_p.R297R|ACSL6_uc021ydh.1_Silent_p.R297R|ACSL6_uc010jdo.2_Silent_p.R372R|ACSL6_uc003kwa.2_Silent_p.R383R|ACSL6_uc003kvw.2_Silent_p.R18R|ACSL6_uc010jdn.2_Silent_p.R387R|ACSL6_uc010jdp.1_Non-coding_Transcript	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	372					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTCGTACATCCGGTTCAGCA	0.562000														68			22		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28711559	28711559	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28711559C>T	uc002kwn.3	-	14	2747	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K	DSC1_uc002kwm.3_Missense_Mutation_p.E829K|BC042382_uc002kwo.1_Non-coding_Transcript	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	829					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GAACTTACTTCGCCAAGCCGA	0.453000														96			24		0	0	1	0	0
PSAP	5660	broad.mit.edu	37	10	73591668	73591668	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73591668G>A	uc001jsm.3	-	2	288	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S		NM_002778	NP_002769	P07602	SAP_HUMAN	Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA.	62	Saposin B-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	Golgi apparatus|extracellular space|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						ATGTCGCAGGGAAGGGATTTC	0.502000														123			47		0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89574082	89574082	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:89574082C>T	uc003hrw.1	+	5	692	c.526C>T	c.(526-528)Ccc>Tcc	p.P176S	HERC3_uc003hrv.3_Missense_Mutation_p.P176S|HERC3_uc011cdn.1_Missense_Mutation_p.P58S	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	176					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GAAGGAGTTCCCCTCCCAAGC	0.562000														36			15		0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185229469	185229469	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:185229469G>A	uc003fpm.3	-	8	1221	c.1111C>T	c.(1111-1113)Cag>Tag	p.Q371*	LIPH_uc010hyh.3_Nonsense_Mutation_p.Q337*	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	371					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TGATATTTCTGAAATGTGGTG	0.393000														80			28		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450029	105450029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:105450029G>A	uc022cca.1	+	0	604	c.604G>A	c.(604-606)Gat>Aat	p.D202N	MUM1L1_uc004emg.2_Missense_Mutation_p.D202N|MUM1L1_uc004emf.2_Missense_Mutation_p.D202N	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	202										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACTTTCGGAAGATAATGATGA	0.383000														12			4		0	0	1	0	0
TEDDM1	127670	broad.mit.edu	37	1	182368876	182368876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:182368876G>A	uc001gpe.3	-	0	876	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F		NM_172000	NP_741997	Q5T9Z0	TEDM1_HUMAN	Homo sapiens transmembrane epididymal protein 1 (TEDDM1), mRNA.	249						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						AACTTGTAGAGGGGTCCTGGA	0.517000														55			32		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997406	115997406	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:115997406G>A	uc003ibu.3	-	1	1466	c.787C>T	c.(787-789)Cat>Tat	p.H263Y	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	263	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTCCATCATGAAGCCCCAGA	0.438000														166			48		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96025687	96025687	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96025687G>A	uc001kjk.3	+	15	4887	c.4253G>A	c.(4252-4254)gGa>gAa	p.G1418E	PLCE1_uc010qnx.2_Missense_Mutation_p.G1402E|PLCE1_uc001kjm.3_Missense_Mutation_p.G1110E	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1418	PI-PLC X-box.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAGCTCAAAGGAGAATCCTCG	0.423000														71			34		0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6594233	6594233	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:6594233C>T	uc002gdj.3	-	9	1390	c.1302G>A	c.(1300-1302)ggG>ggA	p.G434G	SLC13A5_uc010clq.3_Silent_p.G391G|SLC13A5_uc002gdk.3_Silent_p.G417G|SLC13A5_uc010vtf.2_Silent_p.G434G	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	434						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CCATCTGCTTCCCCATCCACA	0.627000														50			41		0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	59844489	59844489	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:59844489G>A	uc009wac.3	+	4	746	c.534G>A	c.(532-534)aaG>aaA	p.K178K	FGGY_uc001czg.2_Silent_p.K66K|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Silent_p.K178K|FGGY_uc001czl.4_Silent_p.K90K	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	178					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TATCGTGGAAGGCAACAGGTG	0.383000														82			29		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248684977	248684977	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248684977G>A	uc001ien.1	+	0	30	c.30G>A	c.(28-30)aaG>aaA	p.K10K		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTCTGAAAAGGGATTTCTTC	0.413000														162			34		0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19319212	19319212	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:19319212G>A	uc010vyw.2	+	13	1851	c.1620G>A	c.(1618-1620)acG>acA	p.T540T	RNF112_uc021tsa.1_Non-coding_Transcript	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	540							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						ACTCCTACACGATGCGCTTCT	0.657000														18			17		0	0	1	0	0
AX747261	0	broad.mit.edu	37	9	99883946	99883946	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:99883946G>A	uc004aww.1	-	1		c.1848C>T								Homo sapiens cDNA FLJ34611 fis, clone KIDNE2014112.																		GAAGCATGAGGGACAGAAGAG	0.577000														11			7		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45284584	45284584	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45284584C>T	uc002ozs.3	+	2	684	c.621C>T	c.(619-621)tcC>tcT	p.S207S	CBLC_uc010ejt.3_Silent_p.S207S	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	207	Cbl-PTB.|EF-hand-like.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GGCACGTGTCCATCTTCGAGT	0.607000			M		AML									77			30		0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746666	77746666	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:77746666C>T	uc002snr.3	-	2	744	c.329G>A	c.(328-330)aGa>aAa	p.R110K	LRRTM4_uc002snq.3_Missense_Mutation_p.R110K|LRRTM4_uc002sns.2_Missense_Mutation_p.R110K|LRRTM4_uc002snt.2_Missense_Mutation_p.R111K	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	110						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTCTTTCAGTCTACGGATCCC	0.388000														54			13		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26988280	26988280	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:26988280C>T	uc003jgs.1	-	1	330	c.161G>A	c.(160-162)gGc>gAc	p.G54D	CDH9_uc010iug.3_Missense_Mutation_p.G54D	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	54	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCACATCCAGCCACGCTTGGT	0.388000														38			16		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15931994	15931994	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:15931994G>A	uc002ddx.3	-	1	223	c.116C>T	c.(115-117)cCc>cTc	p.P39L	MYH11_uc002ddv.3_Missense_Mutation_p.P39L|MYH11_uc002ddw.3_Missense_Mutation_p.P39L|MYH11_uc002ddy.3_Missense_Mutation_p.P39L|MYH11_uc010bvg.3_5'UTR|MYH11_uc002deb.3_Missense_Mutation_p.P39L	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	39	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTTCTCCGAGGGGACCCAGAC	0.572000			T	CBFB	AML									142			23		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73063711	73063711	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73063711G>A	uc004ebm.1	-	0		c.8878C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GTACTACAAAGGAAAGGTGAT	0.403000														3			12		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287627	16287627	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:16287627C>T	uc010gqp.2	-	0	311	c.259G>A	c.(259-261)Gac>Aac	p.D87N	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	87										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GCAGAATCGTCGTGGTCTCCA	0.597000														374			54		0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32239246	32239246	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:32239246G>A	uc003jhq.3	-	12	1375	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	MTMR12_uc010iuk.3_Missense_Mutation_p.S402F|MTMR12_uc010iul.3_Missense_Mutation_p.S402F	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	402	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CACCAGAGAGGAAATGAGACA	0.502000														52			14		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435398	158435398	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158435398G>A	uc010pij.2	+	0	47	c.47G>A	c.(46-48)gGc>gAc	p.G16D		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GTCGTCCTCGGCTTCTCATCC	0.507000														58			12		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43507295	43507295	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43507295C>T	uc001zrb.4	-	2	818	c.518G>A	c.(517-519)aGa>aAa	p.R173K	EPB42_uc001zra.4_Missense_Mutation_p.R143K|EPB42_uc010udm.2_Intron	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	143					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AAACTTACCTCTATTCCAGGG	0.597000														32			9		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8188758	8188758	+	Missense_Mutation	SNP	C	T	T	rs138166112		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8188758C>T	uc002mjf.3	-	21	2883	c.2866G>A	c.(2866-2868)Gat>Aat	p.D956N		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	956	TB 5.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GACTCGGGATCCGGGCAGGCC	0.662000														37			9		0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241953905	241953905	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:241953905G>A	uc001hzg.2	+	23	3081	c.2874G>A	c.(2872-2874)atG>atA	p.M958I	WDR64_uc021plh.1_Missense_Mutation_p.M585I|WDR64_uc021pli.1_Missense_Mutation_p.M511I	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	958										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GGAGAAAAATGAGCTCAGTGT	0.388000														239			18		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47538911	47538911	+	Missense_Mutation	SNP	G	A	A	rs149876632		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47538911G>A	uc003gxk.1	+	8	1516	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.R436Q	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	451					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATGGTTTTTCGAAGATGTAGT	0.443000														24			24		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150432701	150432701	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:150432701C>T	uc009wlr.3	+	8	1520	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F	RPRD2_uc010pcc.1_Missense_Mutation_p.S414F|RPRD2_uc001eup.4_Missense_Mutation_p.S414F	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	440							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTTTCCCCTTCCCCAGCATTG	0.448000														24			10		0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103564014	103564014	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:103564014G>A	uc003ykt.2	+	0	167	c.59G>A	c.(58-60)aGa>aAa	p.R20K		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	20					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AAGGTGGACAGAGAACTAAGG	0.483000														119			14		0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27128577	27128577	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:27128577C>T	uc001zbd.2	+	5	902	c.370C>T	c.(370-372)Ctt>Ttt	p.L124F	GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Missense_Mutation_p.L124F	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	124					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAACAACCTCCTTGCCAGCAA	0.547000														80			23		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390723	197390723	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197390723G>A	uc001gtz.3	+	5	1974	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	CRB1_uc010poz.2_Missense_Mutation_p.E520K|CRB1_uc009wza.3_Missense_Mutation_p.E477K|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Missense_Mutation_p.E589K|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.E70K|CRB1_uc001gub.1_Missense_Mutation_p.E238K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	589	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTCCTGTAAGGAGAAATGCAT	0.458000														117			36		0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37406712	37406712	+	Nonsense_Mutation	SNP	G	A	A	rs147099571		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:37406712G>A	uc002rpu.3	-	3	325	c.304C>T	c.(304-306)Cga>Tga	p.R102*	SULT6B1_uc010yni.2_Non-coding_Transcript	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA.	140						cytoplasm	sulfotransferase activity	p.R102>?(2)|p.R102Q(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TTAGGGTTTCGAAATATCACC	0.358000														87			49		0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204289	9204289	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9204289C>T	uc010xkj.2	+	0	369	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATGACCGGTTCGTGGCCATCT	0.552000														60			30		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89943398	89943398	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89943398G>A	uc003kju.3	+	16	3202	c.3106G>A	c.(3106-3108)Gtc>Atc	p.V1036I	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1036					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACTTGCATGGTCCAGTATGC	0.438000														73			23		0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139745	40139745	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:40139745G>A	uc003ayg.3	-	6	2014	c.1763C>T	c.(1762-1764)tCa>tTa	p.S588L		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	588										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GCTTATTTGTGAACTATTCAG	0.413000														67			26		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585375	82585375	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82585375C>T	uc003uhx.2	-	4	5183	c.4894G>A	c.(4894-4896)Gaa>Aaa	p.E1632K	PCLO_uc003uhv.2_Missense_Mutation_p.E1632K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1563					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E1632K(3)|p.E1563K(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						TCATCGTCTTCATCATGCCAT	0.428000														200			83		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8521544	8521544	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:8521544G>A	uc003zkk.3	-	19	1437	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C	PTPRD_uc003zkp.3_Missense_Mutation_p.R232C|PTPRD_uc003zkq.3_Missense_Mutation_p.R232C|PTPRD_uc003zkr.3_Missense_Mutation_p.R226C|PTPRD_uc003zks.3_Missense_Mutation_p.R222C|PTPRD_uc022bdj.1_Missense_Mutation_p.R229C	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	232					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R232C(3)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGGACACGGCGAACTGGAACA	0.448000										TSP Lung(15;0.13)				71			29		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84592779	84592779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:84592779C>T	uc002bjz.4	+	16	2335	c.2111C>T	c.(2110-2112)cCc>cTc	p.P704L	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.P704L	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	704	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.C703*(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGCCCTGTCCCCCCAGGTAT	0.542000														43			9		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	75005954	75005954	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75005954G>A	uc001dge.2	+	25	2758	c.2691G>A	c.(2689-2691)gaG>gaA	p.E897E	FPGT-TNNI3K_uc001dgf.2_Silent_p.E796E	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	796						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TGTCTTTGGAGGAGATGAAAA	0.358000														57			20		0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39963869	39963869	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39963869C>T	uc002olo.4	+	23	2464	c.2285C>T	c.(2284-2286)aCc>aTc	p.T762I	SUPT5H_uc002olp.4_Missense_Mutation_p.T762I|SUPT5H_uc002olq.4_Missense_Mutation_p.T758I|SUPT5H_uc002oln.4_Missense_Mutation_p.T762I|SUPT5H_uc002olr.4_Missense_Mutation_p.T762I|SUPT5H_uc002ols.1_Missense_Mutation_p.T385I|SUPT5H_uc010egp.1_Silent_p.D127D	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	762	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCGGCATGACCTCGACCTAT	0.652000														62			20		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904562	55904562	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55904562C>T	uc010riz.2	-	0	633	c.633G>A	c.(631-633)atG>atA	p.M211I		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M211I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GAACTGTAATCATGGAAAAAA	0.358000														85			15		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24822131	24822131	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:24822131G>A	uc001iru.4	+	15	3782	c.3379G>A	c.(3379-3381)Gaa>Aaa	p.E1127K	KIAA1217_uc001irs.3_Missense_Mutation_p.E1047K|KIAA1217_uc001irt.4_Missense_Mutation_p.E1092K|KIAA1217_uc010qcy.2_Missense_Mutation_p.E1091K|KIAA1217_uc010qcz.2_Missense_Mutation_p.E1092K|KIAA1217_uc001irw.3_Missense_Mutation_p.E810K|KIAA1217_uc001irz.3_Missense_Mutation_p.E810K|KIAA1217_uc001irx.3_Missense_Mutation_p.E810K|KIAA1217_uc001iry.3_Missense_Mutation_p.E810K	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1127					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGAGGAAGAAGAAGAAGAAGG	0.552000														60			15		0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436710	56436710	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:56436710C>T	uc003xsf.3	+	2	1909	c.1877C>T	c.(1876-1878)tCc>tTc	p.S626F		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	626						integral to membrane		p.C625Y(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TTTGAATGTTCCCCATCTCCT	0.453000														55			24		0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40345098	40345098	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:40345098A>G	uc010skm.2	-	3	1046	c.995T>C	c.(994-996)cTa>cCa	p.L332P	SLC2A13_uc001rmf.3_Missense_Mutation_p.L332P	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	332						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GAACATTTGTAGGCCACAACC	0.373000										HNSCC(50;0.14)				65			8		0	0	1	0	0
TICAM1	148022	broad.mit.edu	37	19	4817311	4817311	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4817311G>A	uc002mbi.3	-	1	1330	c.1079C>T	c.(1078-1080)cCt>cTt	p.P360L	TICAM1_uc021unj.1_Missense_Mutation_p.P360L	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	360	Pro-rich.				I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB 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 kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		aggaggaggaggGGATGTTTC	0.542000														71			21		0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800898	21800898	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:21800898C>T	uc002zur.4	+	2	1944	c.1714C>T	c.(1714-1716)Cgt>Tgt	p.R572C	HIC2_uc002zus.4_Missense_Mutation_p.R572C	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	572					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GCGCTTCACCCGTCAGTACCG	0.627000														56			13		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103173923	103173923	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:103173923C>T	uc001phn.1	+	76	11362	c.11218C>T	c.(11218-11220)Cct>Tct	p.P3740S	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.P3733S	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3733	AAA 6 (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)		GGGTGCTGATCCTTCTCAGGA	0.413000														46			14		0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52604519	52604519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:52604519C>T	uc001vgb.3	+	1	2141	c.1579C>T	c.(1579-1581)Ccc>Tcc	p.P527S	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Missense_Mutation_p.P527S	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	527					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TAAGGAGCTTCCCAGACCTGT	0.468000														138			71		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179718276	179718276	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179718276C>T	uc002une.2	-	19	3254	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K	CCDC141_uc002unf.1_Missense_Mutation_p.E525K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	471							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCACAGCTTCCTTTGTCTTG	0.423000														80			33		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14792844	14792844	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:14792844G>A	uc001rcd.3	-	18	2246	c.2109C>T	c.(2107-2109)ccC>ccT	p.P703P		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	703	Protein kinase.				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						CTGGGCGGAAGGGTTTCATTC	0.368000														125			7		0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723492	48723492	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48723492G>A	uc001rrm.3	+	0	730	c.418G>A	c.(418-420)Ggc>Agc	p.G140S		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	140	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GCAAGAGGAGGGCACGCGCGC	0.726000														16			5		0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77945045	77945045	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:77945045C>T	uc001xtz.3	-	4	1061	c.987G>A	c.(985-987)caG>caA	p.Q329Q	ISM2_uc001xua.3_Missense_Mutation_p.R214K|ISM2_uc001xty.3_Silent_p.Q241Q	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	329	TSP type-1.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TCCACTCCTTCTGAGGCTCAT	0.582000														47			24		0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36492232	36492232	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:36492232G>A	uc003omg.3	-	2	780	c.192C>T	c.(190-192)ctC>ctT	p.L64L	STK38_uc003omh.3_Silent_p.L64L|STK38_uc003omi.3_Silent_p.L64L	NM_007271	NP_009202	Q15208	STK38_HUMAN	Homo sapiens serine/threonine kinase 38 (STK38), mRNA.	64	Interaction with S100B.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	MLL5-L complex|cytoplasm	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGATCTCCGGAGTCGTTTCT	0.393000														72			28		0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36169514	36169514	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:36169514C>T	uc003zzb.4	+	0	126	c.15C>T	c.(13-15)ttC>ttT	p.F5F		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	5					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			AATTGGAATTCACGGAGAAAA	0.493000														40			12		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72267089	72267089	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:72267089C>T	uc003xyu.3	-	2	692	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	EYA1_uc003xyt.4_Intron|EYA1_uc003xyr.4_Missense_Mutation_p.E18K|EYA1_uc010lzf.3_5'UTR|EYA1_uc003xys.4_Missense_Mutation_p.E18K|EYA1_uc011lfe.2_Missense_Mutation_p.E18K|EYA1_uc003xyv.3_5'UTR	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	18					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGGGGGATTCACTACTACCA	0.453000														132			50		0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925636	27925636	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:27925636C>T	uc011dkx.2	+	0	618	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGAGCTCTTCCATCTAATAC	0.423000														206			63		0	0	1	0	0
EIF2C1	26523	broad.mit.edu	37	1	36381037	36381037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:36381037C>T	uc001bzl.3	+	14	2135	c.1922C>T	c.(1921-1923)tCc>tTc	p.S641F	EIF2C1_uc001bzk.3_Missense_Mutation_p.S566F|EIF2C1_uc009vuy.3_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	641	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAGACTTGTCCTACATGGTG	0.547000														97			31		0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60558971	60558971	+	Missense_Mutation	SNP	G	A	A	rs141490536	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:60558971G>A	uc001jki.1	+	11	1684	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K	BICC1_uc001jkj.1_Missense_Mutation_p.E203K	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	562					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TATGCAGACCGAAGGCAAAAA	0.468000														23			7		0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154841789	154841789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154841789C>T	uc021pah.1	-	0	966	c.652G>A	c.(652-654)Gag>Aag	p.E218K	KCNN3_uc001ffp.3_Missense_Mutation_p.E218K|KCNN3_uc009wox.1_Missense_Mutation_p.E218K	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	223						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ATGACGATCTCCGGGGGGTTG	0.652000														58			31		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81242165	81242165	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:81242165C>T	uc002fgh.1	-	3	691	c.691G>A	c.(691-693)Gag>Aag	p.E231K	PKD1L2_uc002fgj.3_Missense_Mutation_p.E231K	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	231	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGTAGGTCTCATCTGCTGCC	0.557000														70			9		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41084153	41084153	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:41084153C>T	uc004dfb.3	+	39	7543	c.6910C>T	c.(6910-6912)Cgt>Tgt	p.R2304C	USP9X_uc004dfc.3_Missense_Mutation_p.R2304C	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	2304					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						CAAATTGCTTCGTTTTTGCTG	0.363000														85			21		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10545978	10545978	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10545978G>A	uc002gmq.2	-	15	1732	c.1644C>T	c.(1642-1644)tcC>tcT	p.S548S		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	548	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGTTCTTGAAGGAGGTGTCTG	0.512000														79			47		0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91844621	91844621	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:91844621G>A	uc001doa.4	-	9	1257	c.1158_splice	c.e9+1	p.P386_splice	HFM1_uc010osu.2_Splice_Site_p.P65_splice|HFM1_uc010osv.1_Splice_Site_p.P70_splice|HFM1_uc001doc.1_Splice_Site_p.P386_splice	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	386	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AATACCTACTGGAGTTGTCAT	0.264000														27			18		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886707	3886707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:3886707G>A	uc003bpt.4	+	1	1143	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.E128K	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	128						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GCATTTGGAGGAAAATCAGAT	0.418000														67			26		0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155719196	155719196	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155719196G>A	uc003ioo.3	+	2	558	c.385G>A	c.(385-387)Ggg>Agg	p.G129R	RBM46_uc011cim.1_Missense_Mutation_p.G129R|RBM46_uc003iop.1_Missense_Mutation_p.G129R	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	129	RRM 1.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AATTCGACCAGGGAAGTTTAT	0.328000														72			28		0	0	1	0	0
TRBV19	28568	broad.mit.edu	37	7	142326973	142326973	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142326973G>A	uc003vzo.2	+	1	466	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	TRBV5-1_uc011krr.1_Intron|TRBV19_uc022anp.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GGAGAAGAAGGAATCCTTTCC	0.488000														142			32		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112777075	112777075	+	Missense_Mutation	SNP	G	A	A	rs147779020	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:112777075G>A	uc002thk.1	+	15	2287	c.2165G>A	c.(2164-2166)cGa>cAa	p.R722Q	MERTK_uc002thl.1_Missense_Mutation_p.R546Q	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	722	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTTCTTCATCGAGATTTAGCT	0.463000														91			52		0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73161477	73161477	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:73161477G>A	uc003hgk.2	-	18	2654	c.2617C>T	c.(2617-2619)Cgt>Tgt	p.R873C		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	873	TSP type-1 2.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.C872*(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTTTCCTACGGCATCCATAT	0.368000														89			28		0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66433743	66433743	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:66433743C>T	uc003dmx.3	-	14	2168	c.2154G>A	c.(2152-2154)ggG>ggA	p.G718G	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Silent_p.G338G|LRIG1_uc003dmw.3_Silent_p.G384G|LRIG1_uc010hnz.3_Silent_p.G434G|LRIG1_uc010hoa.3_Silent_p.G695G	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	718	Ig-like C2-type 3.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCGGAGGGTTCCCCGTGGCTT	0.607000														82			26		0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160240299	160240299	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:160240299C>T	uc003qsy.1	+	17	1486	c.1447C>T	c.(1447-1449)Ctg>Ttg	p.L483L	PNLDC1_uc003qsx.1_Silent_p.L472L	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	472						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCGGAACATCCTGAAGGAGTA	0.602000														24			17		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75042611	75042611	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75042611G>A	uc001dgg.3	-	12	2405	c.2186C>T	c.(2185-2187)tCa>tTa	p.S729L	CR627203_uc001dgh.3_5'Flank	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	729	Glu-rich.							p.S729S(2)		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						TAATGGCAATGAATCCTTTCC	0.388000														36			13		0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409163	56409163	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56409163G>A	uc001njb.1	-	0	753	c.753C>T	c.(751-753)ctC>ctT	p.L251L	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TGACAGCCATGAGGTAAGAGG	0.458000														71			28		0	0	1	0	0
CAMKK1	84254	broad.mit.edu	37	17	3772812	3772812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3772812G>A	uc002fwv.3	-	14	1572	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	CAMKK1_uc002fwt.3_Missense_Mutation_p.S437L|CAMKK1_uc002fwu.3_Missense_Mutation_p.S437L	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	437					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GAGCCTGACTGAGTTCTTAAC	0.622000														56			18		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189022399	189022399	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:189022399C>T	uc011cle.1	-	2	513	c.291G>A	c.(289-291)gaG>gaA	p.E97E	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Silent_p.E47E|TRIML2_uc011clf.1_Silent_p.E97E	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	47							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)		AATTTTGTTCCTCTTCCTTCC	0.348000														46			16		0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148930248	148930248	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:148930248C>T	uc003ewy.4	-	1	637	c.384G>A	c.(382-384)aaG>aaA	p.K128K	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewz.3_Silent_p.K128K	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	128	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCTCATGTTCCTTATAGTAAG	0.373000														73			9		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18436239	18436239	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:18436239G>A	uc003cbh.3	-	6	2656	c.921C>T	c.(919-921)ctC>ctT	p.L307L	SATB1_uc003cbi.3_Silent_p.L307L|SATB1_uc003cbj.3_Silent_p.L307L	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	307					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						GTGTTGATACGAGCCCAGGGT	0.572000														99			22		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21727167	21727167	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21727167G>A	uc001rfb.3	-	3	844	c.589C>T	c.(589-591)Cct>Tct	p.P197S		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	197					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTGGCAATAGGAAGTTTCCTG	0.418000														84			14		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7289621	7289621	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7289621C>T	uc001qss.3	+	5	1699	c.1161C>T	c.(1159-1161)acC>acT	p.T387T	CLSTN3_uc001qsr.3_Silent_p.T375T	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	375					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACCACTTCACCCTGTCCTTCT	0.587000														47			28		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201023684	201023684	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201023684G>A	uc001gvv.3	-	28	3842	c.3615C>T	c.(3613-3615)ttC>ttT	p.F1205F		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1205					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGAGGCCAGGAAAGTCTGTG	0.597000														22			5		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70931458	70931458	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:70931458G>A	uc021vjc.1	-	3	582	c.317C>T	c.(316-318)tCc>tTc	p.S106F	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.S106F|ADD2_uc002sgz.3_Missense_Mutation_p.S106F|ADD2_uc010fdt.2_Missense_Mutation_p.S106F|ADD2_uc002shc.2_Missense_Mutation_p.S106F|ADD2_uc010fdu.2_Missense_Mutation_p.S122F	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	106					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.S105C(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CATACTCATGGAAGATGTCGG	0.602000														86			24		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209791391	209791391	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:209791391C>T	uc001hhg.3	-	18	3302	c.2912G>A	c.(2911-2913)aGc>aAc	p.S971N	LAMB3_uc009xco.3_Missense_Mutation_p.S971N|LAMB3_uc001hhh.3_Missense_Mutation_p.S971N	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	971	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ATGGGCTCGGCTCCTGGGTGA	0.572000														77			7		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176031	57176031	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57176031G>A	uc010ygn.2	-	1	763	c.536C>T	c.(535-537)tCg>tTg	p.S179L		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGCCAGGTACGAGCCCTGGCT	0.706000														20			9		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22890774	22890774	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22890774C>T	uc002zwf.3	-	4	1401	c.1245G>A	c.(1243-1245)ggG>ggA	p.G415G	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Silent_p.G399G|PRAME_uc010gtr.3_Silent_p.G415G|PRAME_uc002zwg.3_Silent_p.G415G|PRAME_uc002zwh.3_Silent_p.G415G|PRAME_uc002zwi.3_Silent_p.G415G|PRAME_uc002zwj.3_Silent_p.G415G|PRAME_uc002zwk.3_Silent_p.G415G	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	415					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AGATGGAATTCCCGTAGAAGC	0.547000														50			16		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484836	97484836	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:97484836C>T	uc001vmw.3	+	1	824	c.800C>T	c.(799-801)tCt>tTt	p.S267F		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	267						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TGGAAAACCTCTCTTCATATG	0.507000														45			16		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22130333	22130333	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:22130333C>T	uc010vbq.2	+	11	1197	c.1101C>T	c.(1099-1101)acC>acT	p.T367T	VWA3A_uc010bxd.3_5'Flank|VWA3A_uc010bxc.2_Silent_p.T354T	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	367						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGGCGCTCACCTGCACCATGG	0.617000														10			5		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48936095	48936095	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:48936095C>T	uc002rwu.4	-	7	742	c.672G>A	c.(670-672)ccG>ccA	p.P224P	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	224					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ACAAGGTTTTCGGCCCTGTGG	0.547000														121			48		0	0	1	0	0
NDST2	8509	broad.mit.edu	37	10	75567892	75567892	+	Silent	SNP	G	A	A	rs138811491		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:75567892G>A	uc001jvk.2	-	2	1059	c.255C>T	c.(253-255)ccC>ccT	p.P85P	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_5'UTR|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_5'UTR	NM_003635	NP_003626	P52849	NDST2_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA.	85	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CAAGGACCACGGGTTCAGTTC	0.602000														34			20		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580119	82580119	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82580119G>A	uc003uhx.2	-	5	10074	c.9785C>T	c.(9784-9786)tCt>tTt	p.S3262F	PCLO_uc003uhv.2_Missense_Mutation_p.S3262F|PCLO_uc010lec.3_Missense_Mutation_p.S227F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3193					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S3262Y(3)|p.S3193Y(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						TTGCTTCATAGACTGCAGCTC	0.478000														135			13		0	0	1	0	0
CLRN2	645104	broad.mit.edu	37	4	17528621	17528621	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:17528621G>A	uc003gpg.1	+	2	717	c.615G>A	c.(613-615)gtG>gtA	p.V205V		NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN	Homo sapiens clarin 2 (CLRN2), mRNA.	205						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						ACTTGGTCGTGGTGGCGATCA	0.507000														80			30		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106918652	106918652	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106918652C>T	uc001kyi.1	+	10	1859	c.1632C>T	c.(1630-1632)ccC>ccT	p.P544P		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	544						integral to membrane	neuropeptide receptor activity	p.P544P(2)|p.P544T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATTTTAGCCCTTCTGTTCCT	0.478000														72			21		0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41552569	41552569	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:41552569C>T	uc003oql.3	+	3	821	c.363C>T	c.(361-363)atC>atT	p.I121I	FOXP4_uc003oqm.3_Silent_p.I121I|FOXP4_uc003oqn.3_Silent_p.I121I	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	121	Gln-rich.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGCAGCAGATCCTGTCGCCCC	0.662000														22			9		0	0	1	0	0
PRR11	55771	broad.mit.edu	37	17	57270872	57270872	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:57270872C>T	uc002ixf.2	+	4	734	c.422C>T	c.(421-423)tCc>tTc	p.S141F	PRR11_uc021uar.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	Homo sapiens proline rich 11 (PRR11), mRNA.	141										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GAAAGTTCTTCCTGTCCAAGC	0.418000														87			17		0	0	1	0	0
C2orf89	129293	broad.mit.edu	37	2	85051079	85051079	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:85051079C>T	uc010ysl.2	-	5	1421	c.1332G>A	c.(1330-1332)gaG>gaA	p.E444E	C2orf89_uc002sou.4_Silent_p.E395E	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	444						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						CGCCTGACCTCTCCTCCAGGC	0.647000														24			9		0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56742738	56742738	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56742738G>A	uc001slc.3	-	16	1749	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	STAT2_uc001slb.3_Nonsense_Mutation_p.Q58*|STAT2_uc001sld.3_Nonsense_Mutation_p.Q512*|STAT2_uc010sqn.2_3'UTR	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	516					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						ATGCTCAGCTGGTCTGAGTTG	0.552000														67			16		0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42992602	42992602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:42992602C>T	uc021tyh.1	-	0	319	c.253G>A	c.(253-255)Gag>Aag	p.E85K	GFAP_uc002ihq.3_Missense_Mutation_p.E85K|GFAP_uc002ihr.3_Missense_Mutation_p.E85K|GFAP_uc010wjg.2_Non-coding_Transcript	NM_001242376	NP_001229305	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA.	85	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CGAACCTTCTCGATGTAGCTG	0.602000														27			22		0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150878387	150878387	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150878387C>T	uc003wjm.1	-	2	1004	c.743G>A	c.(742-744)gGc>gAc	p.G248D	ASB10_uc003wjl.1_Missense_Mutation_p.G248D|ASB10_uc003wjn.1_Missense_Mutation_p.G233D	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	248					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGGTCCAGCCTTCGGCATT	0.657000														28			10		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164371	150164371	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150164371G>A	uc003whj.3	+	1	915	c.585G>A	c.(583-585)acG>acA	p.T195T		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	195						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)		TGGTGAATACGAACGGAGGAC	0.423000														92			49		0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96581799	96581799	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:96581799G>A	uc002sva.1	-	19		c.881_splice	c.e19-1		ANKRD36C_uc002svc.1_Splice_Site					Homo sapiens cDNA FLJ41632 fis, clone FCBBF1000297, highly similar to Human protein immuno-reactive with anti-PTH polyclonal antibodies mRNA.											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						ATCACTTGTAGCCTGAATGGA	0.308000														9			8		0	0	1	0	0
GDF5OS	554250	broad.mit.edu	37	20	34022007	34022007	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34022007C>T	uc002xcj.3	+	1	493	c.418C>T	c.(418-420)Ccg>Tcg	p.P140S	GDF5_uc010gfc.1_Silent_p.R402R|GDF5_uc002xck.1_Silent_p.R402R					Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds.											cervix(1)|endometrium(4)|lung(4)	9						GCAGTGCCTTCCGACTGCAGC	0.607000														124			39		0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723368	142723368	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142723368G>A	uc003wcc.1	-	0	852	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GAGTAAAGATGAAAGGATTCA	0.438000														85			33		0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271775	59271775	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59271775C>T	uc001noa.1	+	0	727	c.727C>T	c.(727-729)Cac>Tac	p.H243Y		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTGCACCTCCCACATCACTGT	0.552000														216			86		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635294	33635294	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:33635294G>A	uc001uus.3	+	3	2086	c.2078G>A	c.(2077-2079)aGg>aAg	p.R693K	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	693	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.R693S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCGTATACAAGGAATATGACA	0.493000														60			6		0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7707367	7707367	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7707367G>A	uc010xjr.2	+	9	925	c.880G>A	c.(880-882)Gag>Aag	p.E294K	STXBP2_uc002mha.4_Missense_Mutation_p.E283K|STXBP2_uc002mhb.4_Missense_Mutation_p.E280K|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	283					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTTGCTGGACGAGGACGATGA	0.662000														143			56		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55710208	55710208	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55710208G>A	uc002qjq.3	-	7	1566	c.1493C>T	c.(1492-1494)cCc>cTc	p.P498L	PTPRH_uc010esv.3_Missense_Mutation_p.P320L|PTPRH_uc002qjs.2_Missense_Mutation_p.P505L	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	498	Fibronectin type-III 6.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGGGCCCTGGGGAGCTGTCCA	0.592000														34			7		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57730213	57730213	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:57730213G>A	uc010bfw.3	+	2	209	c.16G>A	c.(16-18)Ggt>Agt	p.G6S	CGNL1_uc002aeg.3_Missense_Mutation_p.G6S	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	6	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCTGTATTTCGGTGAATATCA	0.443000														278			141		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11177099	11177099	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11177099G>A	uc001asd.3	-	49	7099	c.6978C>T	c.(6976-6978)gtC>gtT	p.V2326V	MTOR_uc001asc.3_Silent_p.V531V	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2326	PI3K/PI4K.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCATTGACATGACCGCTAAAG	0.378000														116			49		0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67915583	67915583	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67915583C>T	uc002eur.3	+	21	3078	c.2839C>T	c.(2839-2841)Cct>Tct	p.P947S	EDC4_uc010cer.3_Missense_Mutation_p.P566S|EDC4_uc002eus.3_Missense_Mutation_p.P677S|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	947					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGCAGAGCCCCCTGAGGACTG	0.607000														40			14		0	0	1	0	0
APOA5	116519	broad.mit.edu	37	11	116661443	116661443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:116661443C>T	uc009yzg.3	-	1	1012	c.580G>A	c.(580-582)Gag>Aag	p.E194K	ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Missense_Mutation_p.E168K|APOA5_uc009yzf.3_Missense_Mutation_p.E168K			Q6Q788	APOA5_HUMAN	Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.	168					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	p.Y194H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GCCCAAGCCTCGTCCACGCCC	0.667000														53			20		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87045045	87045045	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:87045045G>A	uc009wcs.3	+	12	2175	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	CLCA4_uc009wct.3_Missense_Mutation_p.E474K|CLCA4_uc009wcu.3_Missense_Mutation_p.E531K	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	711						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			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)		AGGGGAAATTGAAGCAAACCC	0.413000														48			27		0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37689061	37689061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:37689061C>T	uc003xkj.3	+	7	1439	c.1053C>T	c.(1051-1053)tcC>tcT	p.S351S	GPR124_uc010lvy.3_Silent_p.S351S	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	351					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCTCTGCCTCCTACTGCCCCG	0.662000														31			12		0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223272	44223272	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44223272G>A	uc002oxh.3	+	1	709	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	IRGC_uc021uvh.1_Missense_Mutation_p.A188T	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	188						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTTCAGAGAGGCCGCTGTCCT	0.672000														42			16		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126400967	126400967	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126400967C>T	uc003ifj.4	+	13	12545	c.12545C>T	c.(12544-12546)tCa>tTa	p.S4182L	FAT4_uc011cgp.2_Intron|FAT4_uc003ifi.1_Missense_Mutation_p.S1660L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4182	EGF-like 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATTACTGGTCATGGCAGCAG	0.428000														34			17		0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241569725	241569726	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241569725_241569726GG>AA	uc010fzi.2	+	5	1321_1322	c.449_450GG>AA	c.(448-450)cgg>cAA	p.R150Q	GPR35_uc010fzh.2_Missense_Mutation_p.R150Q|GPR35_uc021vze.1_Missense_Mutation_p.R119Q|GPR35_uc002vzs.2_Missense_Mutation_p.R119Q	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	119						integral to plasma membrane	G-protein coupled receptor activity	p.A150T(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GTGGCCGTGCGGCACCCGCTGC	0.708000														25			9		0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101765653	101765653	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:101765653C>T	uc001pgl.3	-	7	1400	c.804G>A	c.(802-804)acG>acA	p.T268T		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	268	Fibrinogen C-terminal.				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)		TAAAAAATCTCGTTTCATCCT	0.313000														55			20		0	0	1	0	0
DPYSL3	1809	broad.mit.edu	37	5	146780333	146780333	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:146780333C>T	uc003loo.3	-	9	1572	c.1374G>A	c.(1372-1374)ggG>ggA	p.G458G	DPYSL3_uc003lon.1_Silent_p.G344G	NM_001197294	NP_001184223	Q14195	DPYL3_HUMAN	Homo sapiens dihydropyrimidinase-like 3 (DPYSL3), transcript variant 1, mRNA.	344					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTGTCCTTCCCAATTGCTT	0.557000														55			20		0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121944316	121944316	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:121944316C>T	uc003vkd.3	-	0	250	c.176G>A	c.(175-177)gGg>gAg	p.G59E	FEZF1_uc003vkc.3_Missense_Mutation_p.G59E|LOC154860_uc010lko.2_Non-coding_Transcript	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	59					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CTTGGGTTCCCCCTTGGGTAA	0.617000														109			36		0	0	1	0	0
CA4	762	broad.mit.edu	37	17	58234891	58234891	+	Silent	SNP	G	A	A	rs145588553	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:58234891G>A	uc002iym.4	+	3	466	c.372G>A	c.(370-372)aaG>aaA	p.K124K	CA4_uc010wou.2_Intron	NM_000717	NP_000708	P22748	CAH4_HUMAN	Homo sapiens carbonic anhydrase IV (CA4), mRNA.	124					bicarbonate transport|one-carbon metabolic process	ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding	p.K124*(1)		kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TGCCATATAAGGGCTCGGAGC	0.612000														170			42		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133948017	133948017	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133948017G>A	uc003ytw.3	+	24	4990	c.4949G>A	c.(4948-4950)gGg>gAg	p.G1650E	TG_uc010mdw.3_Missense_Mutation_p.G409E|TG_uc011ljb.2_Missense_Mutation_p.G83E	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1650					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GATGCACTGGGGAACTCAAAG	0.448000														43			15		0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89531449	89531449	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:89531449G>A	uc001pdb.3	-	7	1537	c.1208C>T	c.(1207-1209)cCa>cTa	p.P403L		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	403	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGTAGGTTTTGGGATATATTG	0.423000														115			13		0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71487187	71487187	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71487187G>A	uc002faf.3	-	4	915	c.101C>T	c.(100-102)tCt>tTt	p.S34F	ZNF23_uc002fah.3_Missense_Mutation_p.S34F|ZNF23_uc002fad.3_5'UTR|ZNF23_uc010vmf.2_Intron|ZNF23_uc002fag.3_5'UTR|ZNF23_uc002fai.3_Missense_Mutation_p.S72F	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AGCCAGTGGAGATGAGCCCCC	0.517000														13			3		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47765403	47765403	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47765403C>T	uc003gxm.3	-	3	703	c.610G>A	c.(610-612)Gat>Aat	p.D204N	CORIN_uc011bzf.2_Missense_Mutation_p.D65N|CORIN_uc011bzg.2_Missense_Mutation_p.D137N|CORIN_uc011bzh.1_Missense_Mutation_p.D204N|CORIN_uc011bzi.1_Missense_Mutation_p.D204N|CORIN_uc003gxn.4_Missense_Mutation_p.D204N	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	204	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TACCTGTCATCGCCATCAATG	0.413000														17			6		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43246125	43246125	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:43246125G>A	uc002lbe.3	+	11	2314	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K	SLC14A2_uc010dnj.3_Missense_Mutation_p.E500K	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	500						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGAACACCAGGAAAGACAAAA	0.507000											OREG0024946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			25		0	0	1	0	0
PPIL3	53938	broad.mit.edu	37	2	201746149	201746149	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:201746149G>A	uc021vut.1	-	3	445	c.235C>T	c.(235-237)Ctt>Ttt	p.L79F	PPIL3_uc002uwi.3_Missense_Mutation_p.L83F|PPIL3_uc002uwh.3_Missense_Mutation_p.L79F|PPIL3_uc002uwj.3_Silent_p.I47I	NM_130906	NP_570981	Q9H2H8	PPIL3_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 3 (PPIL3), transcript variant PPIL3b, mRNA.	79	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(1)|lung(2)	3						TTTACCTTAAGATATTCACTG	0.338000														37			20		0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30507699	30507699	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30507699C>T	uc010gdx.1	+	6	790	c.537C>T	c.(535-537)ctC>ctT	p.L179L	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_Intron|TTLL9_uc010ztq.1_Non-coding_Transcript	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	179	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCATCTTCCTCTTCCGTAGGC	0.622000														62			35		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147259245	147259245	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:147259245C>T	uc003weu.2	+	11	2309	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	598	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TACGAGCCTTCCTGTGAAGCC	0.448000										HNSCC(39;0.1)				72			10		0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544019	154544019	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154544019C>T	uc001ffg.3	+	4	984	c.720C>T	c.(718-720)aaC>aaT	p.N240N		NM_000748	NP_000739	P17787	ACHB2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 2 (neuronal) (CHRNB2), mRNA.	240					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ACACCATCAACCTCATCATCC	0.572000														125			51		0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626504	49626504	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:49626504G>A	uc002xwa.4	-	1	667	c.372C>T	c.(370-372)ttC>ttT	p.F124F	KCNG1_uc002xwb.3_Silent_p.F124F	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	124						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGATAGTGCCGAAGGCCCCCG	0.632000														66			13		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103307750	103307750	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:103307750G>A	uc003ykr.2	-	29	4278	c.3823C>T	c.(3823-3825)Ctc>Ttc	p.L1275F	UBR5_uc003yks.2_Missense_Mutation_p.L1275F	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1275					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATAGTAAGAGGTGCTCTCCC	0.473000														74			37		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33141495	33141495	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33141495C>T	uc003ocx.1	-	34	2839	c.2611G>A	c.(2611-2613)Ggg>Agg	p.G871R	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G785R|COL11A2_uc003ocz.1_Missense_Mutation_p.G764R	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	871	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCAGGGGGCCCATGGGGGCCA	0.627000														19			10		0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113058976	113058976	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:113058976G>A	uc001ecb.3	+	2	1133	c.618G>A	c.(616-618)aaG>aaA	p.K206K	WNT2B_uc001eca.3_Silent_p.K187K|WNT2B_uc009wgg.3_Silent_p.K114K	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA.	206					Wnt receptor signaling pathway, calcium modulating pathway|chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGATGCCAAGGAGAAGAGGC	0.537000														86			6		0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37680644	37680644	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:37680644G>A	uc002ofq.3	-	3	463	c.211C>T	c.(211-213)Cct>Tct	p.P71S	ZNF585B_uc002ofr.1_5'UTR	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	71	KRAB.				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)			TCTGGTTTAGGAACTTGATAC	0.478000														63			28		0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840921	142840921	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:142840921G>A	uc003evm.3	+	1	2202	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L	CHST2_uc021xex.1_Silent_p.L421L	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	421					N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GCCACTACCTGGTGGTGCGGT	0.587000														59			7		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71418430	71418430	+	Missense_Mutation	SNP	C	T	T	rs140473608	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:71418430C>T	uc010dfm.3	-	14	2041	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K	SDK2_uc010dfn.2_Missense_Mutation_p.E360K	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	681	Fibronectin type-III 1.				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						CCTCACCTCTCGGTGTCTTTG	0.607000														48			23		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537224	5537225	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5537224_5537225GG>AA	uc001maz.4	-	0	732_733	c.447_448CC>TT	c.(445-450)gcccac>gcTTac	p.H150Y	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	150										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CCCACAAAGTGGGCCAGTTCCA	0.530000														94			9		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103321104	103321104	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103321104G>A	uc002tca.3	+	9	2089	c.1947G>A	c.(1945-1947)agG>agA	p.R649R		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	649						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AAAGCATTAGGAAGGACAGCA	0.512000														61			23		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962516	73962516	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73962516G>A	uc004eby.3	-	2	2493	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	626					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	p.A625V(1)		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						TTTCGTTTGCGAGCAGGTGGC	0.413000														10			13		0	0	1	0	0
HAPLN4	404037	broad.mit.edu	37	19	19372292	19372292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19372292C>T	uc002nmb.3	-	1	194	c.84G>A	c.(82-84)ggG>ggA	p.G28G	HAPLN4_uc002nmc.3_Silent_p.G28G	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 4 (HAPLN4), mRNA.	28					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			CACGCTGCGCCCCCGCAGGGG	0.726000														51			8		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610124	47610124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47610124C>T	uc001cqv.1	+	6	937	c.886C>T	c.(886-888)Ctc>Ttc	p.L296F	CYP4A22_uc009vyo.3_Missense_Mutation_p.L296F|CYP4A22_uc009vyp.3_Missense_Mutation_p.P244L	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	296						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGACATCCTCCTCTTGGCCAA	0.507000														103			35		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38357943	38357943	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38357943C>T	uc003cib.2	+	8	1734	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	SLC22A14_uc010hhc.1_Missense_Mutation_p.S554F|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	554						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GTGGCCTTTTCCCTCTCCTCC	0.612000														37			17		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587768	55587768	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55587768C>T	uc010rin.2	+	0	663	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A220V(2)|p.A220A(1)|p.A220S(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTTATGCGTTCATTGTTGTAA	0.478000														87			25		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182171	140182171	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140182171C>T	uc003lhf.2	+	0	1389	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.F463F	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	477	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)			ACACGGTGTTCGTGAAGGAGA	0.662000														153			19		0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150648860	150648860	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150648860G>A	uc003wic.3	-	6	2022	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C	KCNH2_uc003wib.3_Missense_Mutation_p.R201C|KCNH2_uc011kux.2_Missense_Mutation_p.R445C|KCNH2_uc003wid.3_Missense_Mutation_p.R201C|KCNH2_uc003wie.3_Missense_Mutation_p.R541C	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	541					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TCTGAGTAGCGATCCAGCTTC	0.642000														32			7		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1684132	1684132	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1684132C>T	uc002qxa.3	-	6	627	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	PXDN_uc002qxb.1_Missense_Mutation_p.R188Q|PXDN_uc002qxc.1_Missense_Mutation_p.R5Q	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	188					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGAGTCCAGTCGCCTGTGGGA	0.592000														32			16		0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35400426	35400426	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35400426C>T	uc003zwr.3	+	35	4515	c.4223C>T	c.(4222-4224)tCg>tTg	p.S1408L	UNC13B_uc003zwq.3_Missense_Mutation_p.S1408L	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	1408					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity	p.S1408*(2)|p.R1407C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TTTGTGCGCTCGCAGACCACC	0.527000														121			70		0	0	1	0	0
PAPD4	167153	broad.mit.edu	37	5	78915544	78915544	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:78915544C>T	uc010jae.1	+	2	491	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	PAPD4_uc003kgb.2_Silent_p.L25L|PAPD4_uc010jaf.1_Silent_p.L25L|PAPD4_uc003kga.2_Silent_p.L25L|PAPD4_uc003kfz.2_Silent_p.L25L	NM_001114393	NP_776158	Q6PIY7	GLD2_HUMAN	Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA.	25					RNA polyadenylation|histone mRNA catabolic process|mRNA processing	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		CTTCTTTACCCTGTCACCTAC	0.408000														79			27		0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155486985	155486985	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155486985G>A	uc003ioa.4	+	1	179	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	FGB_uc010ipu.1_Non-coding_Transcript|FGB_uc010ipv.3_Missense_Mutation_p.R47Q	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	47	Beta-chain polymerization, binding distal domain of another fibrin.		Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CGTGGTCATCGACCCCTTGAC	0.522000														56			7		0	0	1	0	0
NCALD	83988	broad.mit.edu	37	8	102731543	102731543	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:102731543G>A	uc003yke.3	-	1	684	c.315C>T	c.(313-315)ttC>ttT	p.F105F	NCALD_uc003ykf.3_Silent_p.F105F|NCALD_uc003ykg.3_Silent_p.F105F|NCALD_uc003ykh.3_Silent_p.F105F|NCALD_uc003yki.3_Silent_p.F105F|NCALD_uc003ykj.3_Silent_p.F105F|NCALD_uc003ykk.3_Silent_p.F105F|NCALD_uc003ykl.3_Silent_p.F105F	NM_032041	NP_114430	P61601	NCALD_HUMAN	Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA.	105	EF-hand 3.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CGTACATGCTGAAGGCCCATT	0.478000														134			47		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196718101	196718101	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196718101G>A	uc002utj.4	-	45	8848	c.8747C>T	c.(8746-8748)gCt>gTt	p.A2916V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2916					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCGAGGTAAGCAACCACTCC	0.507000														59			6		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8404586	8404586	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:8404586C>T	uc003zkk.3	-	35	4904	c.4161G>A	c.(4159-4161)gcG>gcA	p.A1387A	PTPRD_uc003zkp.3_Silent_p.A981A|PTPRD_uc003zkq.3_Silent_p.A980A|PTPRD_uc003zkr.3_Silent_p.A971A|PTPRD_uc003zks.3_Silent_p.A980A|PTPRD_uc022bdj.1_Silent_p.A977A	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1387	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A1387T(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CGATTACATTCGCGTATCTAT	0.378000										TSP Lung(15;0.13)				42			13		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19544092	19544092	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:19544092C>T	uc003jgd.3	-	8	1810	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	CDH18_uc011cnm.2_Missense_Mutation_p.E426K|CDH18_uc003jgc.3_Missense_Mutation_p.E426K|CDH18_uc021xwu.1_Missense_Mutation_p.E426K	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	426	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTGTCGTCTTCAACATTGTAG	0.343000														33			26		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24255255	24255255	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24255255C>T	uc003xdz.2	+	6	907	c.687C>T	c.(685-687)gcC>gcT	p.A229A	ADAMDEC1_uc010lub.2_Silent_p.A150A|ADAMDEC1_uc011lab.1_Silent_p.A150A	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	229	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TGGATAATGCCTTTGTGAGTA	0.353000														65			8		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10942968	10942968	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:10942968G>A	uc002yip.1	-	11	987	c.619C>T	c.(619-621)Cat>Tat	p.H207Y	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.H189Y|TPTE_uc002yir.1_Missense_Mutation_p.H169Y|TPTE_uc010gkv.1_Missense_Mutation_p.H69Y	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	207					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		TGAAACAGATGAAAAATTCTT	0.308000														74			7		0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187131739	187131739	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187131739C>T	uc003iyw.4	+	10	1826	c.1522C>T	c.(1522-1524)Cgt>Tgt	p.R508C	CYP4V2_uc010ism.3_Non-coding_Transcript	NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.	508			R -> H (in BCD).		response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GTTGATTCTTCGTCCAAGTAA	0.403000														76			22		0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39510025	39510025	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:39510025G>A	uc001wup.1	-	17	2276	c.2053C>T	c.(2053-2055)Ctg>Ttg	p.L685L	SEC23A_uc010tqa.1_Silent_p.L571L|SEC23A_uc010tqb.1_Silent_p.L656L	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	685					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	p.L685L(1)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GGGGCTTGCAGAAGGTGGCGG	0.418000														89			22		0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49062078	49062078	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:49062078C>T	uc004dnb.3	-	46	5763	c.5701G>A	c.(5701-5703)Gct>Act	p.A1901T	CACNA1F_uc010nip.3_Missense_Mutation_p.A1890T	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1901					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)	GGACTCACAGCCTCCACCAAG	0.622000														8			4		0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25671518	25671518	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25671518C>T	uc001upy.3	+	0	1243	c.1182C>T	c.(1180-1182)aaC>aaT	p.N394N		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	394					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTGTGCCCAACCAGCGAGCAC	0.498000														95			35		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63044633	63044633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:63044633G>A	uc001daq.3	-	16	1910	c.1876C>T	c.(1876-1878)Cct>Tct	p.P626S	DOCK7_uc001dan.3_Missense_Mutation_p.P518S|DOCK7_uc001dao.3_Missense_Mutation_p.P518S|DOCK7_uc001dap.3_Missense_Mutation_p.P626S	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	626	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TGAAAATCAGGAGACCTTCAT	0.254000														66			30		0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149263075	149263075	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149263075G>A	uc003lrg.4	-	16	2172	c.2052C>T	c.(2050-2052)atC>atT	p.I684I	PDE6A_uc021yfs.1_Silent_p.I603I	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	684					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACTGATCCACGATCTTTTGGA	0.448000														41			17		0	0	1	0	0
BHLHE22	27319	broad.mit.edu	37	8	65493764	65493764	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:65493764C>T	uc003xvi.3	+	0	970	c.417C>T	c.(415-417)gcC>gcT	p.A139A	LOC401463_uc003xvh.3_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.	139	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GCTCGGTGGCCGAGAGCAGCG	0.751000														3			4		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55496418	55496418	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55496418C>T	uc021vbq.1	+	6	2145	c.2034C>T	c.(2032-2034)tcC>tcT	p.S678S	NLRP2_uc010yfp.2_Silent_p.S655S|NLRP2_uc002qij.3_Silent_p.S678S|NLRP2_uc010esp.3_Silent_p.S656S|NLRP2_uc010esn.3_Silent_p.S654S|NLRP2_uc010eso.3_Silent_p.S675S	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	678					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CCTATAGATCCCAGGATGATC	0.433000														99			46		0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572226	53572226	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53572226G>A	uc010eqk.3	-	6	1977	c.1561C>T	c.(1561-1563)Cgt>Tgt	p.R521C	ZNF160_uc002qaq.4_Missense_Mutation_p.R521C|ZNF160_uc002qar.4_Missense_Mutation_p.R521C	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	521					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R521C(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AGACTTGAACGAACACTGAAG	0.398000														148			16		0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17652952	17652952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17652952C>T	uc021uqj.1	+	10	1409	c.1271C>T	c.(1270-1272)tCa>tTa	p.S424L	FAM129C_uc021uqi.1_Missense_Mutation_p.S424L|FAM129C_uc002ngy.4_Missense_Mutation_p.S150L|FAM129C_uc010xpu.2_Missense_Mutation_p.S150L|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_Missense_Mutation_p.S150L|FAM129C_uc002nhb.3_Missense_Mutation_p.S23L	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	424										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CAGGTTTACTCATTTGGGGAG	0.587000														121			70		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60911420	60911420	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:60911420G>A	uc002ycq.3	-	17	2366	c.2299C>T	c.(2299-2301)Ccc>Tcc	p.P767S	LAMA5_uc021wfw.1_Missense_Mutation_p.P767S	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	767	Laminin EGF-like 9.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGTTGCTGGGGCTCAGTCCC	0.622000														62			23		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8418518	8418518	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:8418518G>A	uc001ape.3	-	20	4887	c.4077C>T	c.(4075-4077)gcC>gcT	p.A1359A	RERE_uc001apf.3_Silent_p.A1359A|RERE_uc001apd.3_Silent_p.A805A	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1359					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGTGGGGCCCGGCGGTCGGGG	0.701000														15			4		0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29797602	29797602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29797602C>T	uc003nnw.2	+	5	1083	c.905C>T	c.(904-906)tCc>tTc	p.S302F	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Missense_Mutation_p.S274F|HLA-G_uc003raj.3_Missense_Mutation_p.S307F|HLA-G_uc003nnz.3_Missense_Mutation_p.S210F|HLA-G_uc010jrn.2_Missense_Mutation_p.S118F|HLA-G_uc003nny.3_Non-coding_Transcript|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_Non-coding_Transcript	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	302	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity	p.S301Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GAGCAGTCTTCCCTGCCCACC	0.582000														101			11		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130504133	130504133	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130504133C>T	uc004bsc.3	-	8	2164	c.2022G>A	c.(2020-2022)gaG>gaA	p.E674E	SH2D3C_uc010mxo.3_Silent_p.E514E|SH2D3C_uc004bry.3_Silent_p.E516E|SH2D3C_uc004brz.4_Silent_p.E320E|SH2D3C_uc011mak.2_Silent_p.E320E|SH2D3C_uc004bsb.3_Silent_p.E606E|SH2D3C_uc004bsa.3_Silent_p.E517E	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	674	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCCCCCGCAGCTCGGCCGCCA	0.662000														42			27		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755243	140755243	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140755243G>A	uc003ljy.2	+	0	1593	c.1593G>A	c.(1591-1593)tgG>tgA	p.W531*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Nonsense_Mutation_p.W531*	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	533	Cadherin 5.				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)			TACAGCTGTGGGTGACAGCCA	0.597000														228			65		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16021577	16021577	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:16021577G>A	uc010lsu.3	-	4	932	c.868C>T	c.(868-870)Caa>Taa	p.Q290*	MSR1_uc003wwz.3_Nonsense_Mutation_p.Q272*|MSR1_uc003wxa.3_Nonsense_Mutation_p.Q272*|MSR1_uc003wxb.3_Nonsense_Mutation_p.Q272*|MSR1_uc011kxz.2_Nonsense_Mutation_p.Q46*	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	272	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.E289Q(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTTTACCTTGAATTAAAGTG	0.294000														33			15		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153049	105153049	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:105153049G>A	uc004emd.3	+	12	1719	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R	NRK_uc010npc.1_Silent_p.R140R	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	472	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CACGACTACGGAGGGCAGCCA	0.562000										HNSCC(51;0.14)				18			11		0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281491	125281491	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125281491G>A	uc011lyw.2	+	0	72	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q24H(2)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CAGAGCAGCAGGCTGTGTTCT	0.557000														128			28		0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113802129	113802129	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113802129G>A	uc001pok.3	+	2	375	c.237G>A	c.(235-237)aaG>aaA	p.K79K	HTR3B_uc001pol.3_Silent_p.K68K	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	79					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		AAATATTAAAGACAAGTGTAT	0.318000														37			15		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220472776	220472776	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220472776C>T	uc002vml.3	+	13	1303	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	STK11IP_uc010zll.2_Silent_p.F377F|STK11IP_uc002vmm.1_Silent_p.F409F	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	420					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGGATGGTTCGTGCAGCAGC	0.627000														30			24		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117853292	117853292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117853292C>T	uc004bjj.4	-	1	418	c.6G>A	c.(4-6)ggG>ggA	p.G2G	TNC_uc010mvf.3_Silent_p.G2G|TNC_uc022bmj.1_Silent_p.G2G	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	2					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GAGTCATGGCCCCCATGGTGG	0.557000														18			21		0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27460569	27460569	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:27460569C>T	uc002dor.2	+	9	2196	c.1648C>T	c.(1648-1650)Ccg>Tcg	p.P550S	IL21R_uc002doq.2_Missense_Mutation_p.P528S|IL21R_uc002dos.2_Missense_Mutation_p.P528S|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	528					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGTCATTCCTCCGCCACTTTC	0.652000			T	BCL6	NHL									49			14		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4836859	4836859	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:4836859G>A	uc003bqc.3	+	51	7224	c.6874G>A	c.(6874-6876)Gga>Aga	p.G2292R	ITPR1_uc021wsi.1_Missense_Mutation_p.G2259R|ITPR1_uc021wsj.1_Missense_Mutation_p.G2244R|ITPR1_uc011asu.2_Intron|ITPR1_uc010hcc.2_Missense_Mutation_p.G27R	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2307					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CCCGTTTAAGGGAGTCCGAGG	0.483000														28			10		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47219479	47219479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:47219479G>A	uc002ion.2	+	2	537	c.478G>A	c.(478-480)Gac>Aac	p.D160N	B4GALNT2_uc010wlt.1_Missense_Mutation_p.D74N|B4GALNT2_uc010wlu.1_Missense_Mutation_p.D100N	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	160					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGGCCAGAGCGACCTCCCAGC	0.498000														100			38		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23225854	23225854	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:23225854G>A	uc003xdh.1	-	1	350	c.11C>T	c.(10-12)cCt>cTt	p.P4L		NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	4					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GGAGCACAGAGGCCTCTCCAT	0.637000														31			22		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25008807	25008807	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25008807G>A	uc001upl.3	-	30	4578	c.4472C>T	c.(4471-4473)tCc>tTc	p.S1491F		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1491					DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GGTAGTCCGGGACTGACTGCA	0.488000														68			6		0	0	1	0	0
L32131	0	broad.mit.edu	37	17	58512655	58512655	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:58512655C>T	uc002iyr.1	-	0		c.703G>A								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		ACCTTCTCTCCCTTCTTTGCA	0.498000														43			14		0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4135832	4135832	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:4135832G>A	uc003mwf.3	-	1	1	c.-36_splice	c.e1-1		ECI2_uc021yku.1_5'Flank|ECI2_uc003mwc.3_Splice_Site|ECI2_uc003mwd.3_Splice_Site|ECI2_uc003mwe.3_Splice_Site|ECI2_uc010jnr.1_5'Flank|AK092451_uc003mwg.1_5'Flank	NM_206836	NP_996667	O75521	ECI2_HUMAN	Homo sapiens enoyl-CoA delta isomerase 2 (ECI2), transcript variant 2, mRNA.						fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						GCTCGGGGGTGGGGCCGGGTC	0.751000														15			5		0	0	1	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134472027	134472027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:134472027G>A	uc003yuk.2	-	9	1832	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	ST3GAL1_uc003yum.2_Missense_Mutation_p.R335W	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA.	335					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	p.R335R(1)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			TTGAAGATCCGGATTTTATTG	0.572000														113			8		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580800	140580800	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140580800C>T	uc003liy.3	+	0	1453	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	485	Cadherin 5.				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)			CACCAACGCCCAGGTCAACTA	0.632000														202			75		0	0	1	0	0
C1orf201	90529	broad.mit.edu	37	1	24696301	24696301	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24696301C>T	uc001bjc.3	-	6	767	c.600G>A	c.(598-600)gtG>gtA	p.V200V	C1orf201_uc010oej.2_Silent_p.V28V|C1orf201_uc001bjb.3_Silent_p.V108V|C1orf201_uc001bja.3_Silent_p.V153V|C1orf201_uc001bjd.3_Silent_p.V200V|C1orf201_uc001bjf.3_Silent_p.V68V	NM_001199013	NP_001185942	Q5TH74	CA201_HUMAN	Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA.	200										breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	15		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)		GCGACTGCTTCACAAGGGATT	0.393000														118			13		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2161844	2161844	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:2161844C>T	uc003zhc.3	+	27	4239	c.4140C>T	c.(4138-4140)ccC>ccT	p.P1380P	SMARCA2_uc003zhd.3_Silent_p.P1380P|SMARCA2_uc010mha.3_Silent_p.P1313P|SMARCA2_uc011llw.2_Silent_p.P84P|SMARCA2_uc011llx.2_Silent_p.P44P|SMARCA2_uc003zhe.3_Silent_p.P86P|SMARCA2_uc010mhb.3_Silent_p.P68P	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1380					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CACCAAATCCCCCCAAACTGA	0.438000														28			15		0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24546362	24546362	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24546362G>A	uc010tnv.2	+	16	1611	c.1465_splice	c.e16-1	p.K489_splice	CPNE6_uc001wlm.3_Splice_Site_p.K259_splice|CPNE6_uc001wll.3_Splice_Site_p.K434_splice|CPNE6_uc001wln.3_Splice_Site_p.K102_splice	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	434	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)		CTTGCCCTCAGAAGTACTCGG	0.597000														47			11		0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	861007	861007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:861007G>A	uc001ifs.1	-	14	1740	c.1699C>T	c.(1699-1701)Ctc>Ttc	p.L567F		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	567							RNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCTGCACTGAGGGTCTGAAAC	0.592000														39			17		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150877775	150877775	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:150877775C>T	uc003eyp.3	+	6	1123	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Missense_Mutation_p.P332S|MED12L_uc003eyo.3_Missense_Mutation_p.P332S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	332					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATCGGGGCCCCCAGCCCTGG	0.607000														213			25		0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127262788	127262788	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:127262788C>A	uc004boo.1	-	3	638	c.451G>T	c.(451-453)Ggc>Tgc	p.G151C	NR5A1_uc022bnh.1_Missense_Mutation_p.G151C	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	151					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GCGGCCAGGCCCTTGGGCTCA	0.741000														17			15		1.99824e-07	2.00332e-07	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5182205	5182205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:5182205C>T	uc003jdl.3	+	3	688	c.550C>T	c.(550-552)Cct>Tct	p.P184S	ADAMTS16_uc003jdk.1_Missense_Mutation_p.P184S|ADAMTS16_uc003jdj.1_Missense_Mutation_p.P184S	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	184					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AAGGCCACTTCCTTCACACCT	0.488000														97			43		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60695935	60695935	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:60695935G>A	uc002sae.1	-	2	647	c.419C>T	c.(418-420)cCt>cTt	p.P140L	BCL11A_uc002sab.3_Missense_Mutation_p.P140L|BCL11A_uc002sac.3_Missense_Mutation_p.P140L|BCL11A_uc010ypi.2_5'UTR|BCL11A_uc010ypj.2_Intron|BCL11A_uc002sad.1_5'UTR|BCL11A_uc002saf.1_Intron	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	140	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.P140T(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGCAGAACGAGGGGAGGAGAG	0.473000			T	IGH@	B-CLL									64			6		0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59283076	59283076	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59283076G>A	uc010rkv.2	+	0	691	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TCACACTGGGGAAGGCAGGAG	0.502000														262			26		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34513176	34513176	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:34513176G>A	uc003zum.3	+	15	1749	c.1556G>A	c.(1555-1557)gGa>gAa	p.G519E		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	519					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		ACAGAGGAGGGAAAAATCTAC	0.522000									Kartagener syndrome					105			62		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	175995723	175995723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:175995723C>T	uc021yie.1	+	3	443	c.169C>T	c.(169-171)Cct>Tct	p.P57S	CDHR2_uc003mem.2_Missense_Mutation_p.P57S|CDHR2_uc003men.1_Missense_Mutation_p.P57S	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	57	Cadherin 1.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGACAATGACCCTCTGACCTA	0.597000														80			16		0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89525033	89525033	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:89525033C>T	uc001dmx.2	-	3	615	c.395G>A	c.(394-396)gGa>gAa	p.G132E		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	132					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GTTGATGGTTCCTATGCTATT	0.527000														158			43		0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	44878220	44878220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44878220C>T	uc001clv.1	+	1	811	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	RNF220_uc001clw.1_Missense_Mutation_p.P151S	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	151					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CACAGAGTCTCCCCACTTGCG	0.562000														88			40		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255668	15255668	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15255668G>A	uc001iob.3	-	7	1926	c.1919C>T	c.(1918-1920)tCc>tTc	p.S640F		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	640						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GATGGCCTGGGAAGACAGGGG	0.612000														56			14		0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52473859	52473859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:52473859C>T	uc002egw.2	-	6	1180	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T	TOX3_uc010vgt.1_Missense_Mutation_p.A332T	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	337					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						ATGGTCTGGGCTTCTGCTGAC	0.433000														48			16		0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121439	50121439	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50121439C>T	uc001jhd.3	-	0	842	c.762G>A	c.(760-762)tgG>tgA	p.W254*	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Nonsense_Mutation_p.W254*	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	254						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CAAGTCACCTCCAGTCTTCCC	0.547000														150			57		0	0	1	0	0
DPAGT1	1798	broad.mit.edu	37	11	118967876	118967876	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118967876G>A	uc001pvi.3	-	7	1557	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	H2AFX_uc001pvg.3_5'Flank|DPAGT1_uc001pvj.3_Silent_p.L272L|DPAGT1_uc001pvk.3_Silent_p.L207L|DPAGT1_uc001pvm.1_3'UTR|DPAGT1_uc010rza.2_Silent_p.L272L	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	Homo sapiens dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) (DPAGT1), mRNA.	379					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity|phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GGAGCAATGTGAGGTTTCTCT	0.473000														137			65		0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64139739	64139739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:64139739G>A	uc002scq.3	-	18	2642	c.2479C>T	c.(2479-2481)Cat>Tat	p.H827Y	VPS54_uc002scp.3_Missense_Mutation_p.H815Y|VPS54_uc002scn.3_5'UTR|VPS54_uc002sco.3_Missense_Mutation_p.H312Y|VPS54_uc010fct.3_Missense_Mutation_p.H674Y	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	827					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GCTTCAAAATGAGCCCGGATC	0.358000														101			9		0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26627455	26627455	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26627455G>A	uc001blw.3	-	4	434	c.161C>T	c.(160-162)tCc>tTc	p.S54F	UBXN11_uc001bly.3_Missense_Mutation_p.S54F|UBXN11_uc001blz.1_Intron|UBXN11_uc001blx.3_Intron|UBXN11_uc001bma.3_Intron|UBXN11_uc010ofb.1_Intron|UBXN11_uc010ofc.1_Intron	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	54						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						GCCATAGCAGGAAGGGACTGA	0.617000														91			43		0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69230763	69230763	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:69230763G>A	uc003dnv.2	-	20	2428	c.2138C>T	c.(2137-2139)tCc>tTc	p.S713F	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.S365F|FRMD4B_uc011bga.1_Missense_Mutation_p.S557F	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	713						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TTTGGAGAGGGAGAAAAATGG	0.517000														65			22		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222729	140222729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140222729C>T	uc003lhs.2	+	0	1823	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	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_uc003lhr.1_Missense_Mutation_p.S608L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	621	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S608L(4)		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)			GCGTGGCTTTCGTATGAGCTG	0.682000														29			20		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96495170	96495170	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96495170C>T	uc001kjv.4	+	8	1768	c.1442C>T	c.(1441-1443)cCc>cTc	p.P481L	CYP2C19_uc001kjw.4_Missense_Mutation_p.P422L|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	481					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CGTGTGCCACCCTTGTACCAG	0.493000														185			23		0	0	1	0	0
LRRC57	255252	broad.mit.edu	37	15	42837368	42837368	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42837368C>T	uc001zqd.2	-	3	953	c.585G>A	c.(583-585)caG>caA	p.Q195Q	LRRC57_uc001zqc.3_Silent_p.Q195Q	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN	Homo sapiens leucine rich repeat containing 57 (LRRC57), mRNA.	195										breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		TGAGGATGCTCTGGGGAAGCA	0.423000														83			36		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48269841	48269841	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48269841C>T	uc002iqm.3	-	28	2104	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	660	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTTACCTGTTCACCAGGTTTG	0.582000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							21			9		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10114359	10114360	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10114359_10114360GG>AA	uc002mmq.1	-	5	816_817	c.730_731CC>TT	c.(730-732)cct>TTt	p.P244F		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	244	Nonhelical 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)			CTTCCGCCGAGGACGAGGGGTT	0.579000														79			9		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325311	150325311	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150325311G>A	uc022apv.1	-	2	1065	c.585C>T	c.(583-585)gcC>gcT	p.A195A	GIMAP6_uc003whn.3_Silent_p.A125A|GIMAP6_uc003whm.3_Missense_Mutation_p.R51C	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	125							GTP binding	p.R194Q(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGGAGCACGGCGTGGGGCC	0.622000														68			32		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156638365	156638365	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:156638365G>A	uc003iov.3	+	8	2163	c.1627G>A	c.(1627-1629)Gat>Aat	p.D543N	GUCY1A3_uc010iqc.2_Missense_Mutation_p.D543N|GUCY1A3_uc010iqd.3_Missense_Mutation_p.D542N|GUCY1A3_uc003iow.3_Missense_Mutation_p.D543N|GUCY1A3_uc003iox.3_Missense_Mutation_p.D543N|GUCY1A3_uc010iqe.3_Missense_Mutation_p.D308N|GUCY1A3_uc003ioy.3_Missense_Mutation_p.D543N|GUCY1A3_uc003ioz.3_Missense_Mutation_p.D308N|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.D543N	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	543	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CAAAGAGAGTGATACTCATGC	0.433000														90			19		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47361637	47361637	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:47361637G>A	uc002xtw.1	-	2	362	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	113	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGGCGGCCAAGAAATCCTTAT	0.502000														268			21		0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44477369	44477369	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44477369G>A	uc001cll.3	-	1	305	c.113C>T	c.(112-114)tCc>tTc	p.S38F	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.3_Intron|SLC6A9_uc009vxd.3_Intron|SLC6A9_uc010okn.2_Intron|SLC6A9_uc010oko.2_Intron|SLC6A9_uc001cln.3_Intron|SLC6A9_uc010okp.1_Intron	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	38						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CAGGAAGAAGGATCTCTGAAC	0.597000														43			13		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140396114	140396114	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140396114C>T	uc010ncj.1	-	14	1876	c.1539G>A	c.(1537-1539)agG>agA	p.R513R	PNPLA7_uc011mfa.1_Intron|PNPLA7_uc004cnf.2_Silent_p.R488R	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	488					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGTCTCCCTGCCTTGACACCA	0.637000														29			4		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719404	42719404	+	Missense_Mutation	SNP	C	T	T	rs144782781		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:42719404C>T	uc021xxv.1	+	9	1953	c.1816C>T	c.(1816-1818)Cat>Tat	p.H606Y	GHR_uc003jmt.3_Missense_Mutation_p.H599Y|GHR_uc003jmu.3_Missense_Mutation_p.H599Y|GHR_uc003jmv.2_Missense_Mutation_p.H599Y|GHR_uc021xxw.1_Missense_Mutation_p.H599Y|GHR_uc021xxx.1_Missense_Mutation_p.H599Y|GHR_uc021xxy.1_Missense_Mutation_p.H599Y|GHR_uc021xxz.1_Missense_Mutation_p.H599Y|GHR_uc021xya.1_Missense_Mutation_p.H599Y|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.H412Y|GHR_uc021xyd.1_Missense_Mutation_p.H577Y	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	599					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TACCTCCATTCATATAGTACA	0.512000														44			14		0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75174037	75174037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:75174037G>A	uc003uds.2	-	26	2767	c.2722C>T	c.(2722-2724)Cat>Tat	p.H908Y	HIP1_uc011kfz.2_Missense_Mutation_p.H857Y	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	908	I/LWEQ.|Important for actin binding (By similarity).				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCAATTTCATGAGAACACACC	0.527000			T	PDGFRB	CMML									44			15		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73566202	73566202	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73566202C>T	uc002joh.3	+	14	1894	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	LLGL2_uc002joi.3_Silent_p.F580F|LLGL2_uc010dgg.2_Silent_p.F580F|LLGL2_uc002joj.3_Silent_p.F569F|LLGL2_uc010wsd.2_Silent_p.F207F	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	580					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TTCAGCCCTTCGTGTTGGTGC	0.677000														13			5		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70926258	70926258	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70926258G>A	uc021rvq.1	+	0	2042	c.2042G>A	c.(2041-2043)gGa>gAa	p.G681E	ADAM21_uc001xmd.3_Missense_Mutation_p.G681E	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	681					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCAAAGAGAGGAGTTTTTTTG	0.488000														34			23		0	0	1	0	0
TPTEP1	387590	broad.mit.edu	37	22	17178622	17178622	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17178622G>A	uc002zls.1	+	2		c.704G>A								Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		CTGATGATTTGGAACAGTGTG	0.622000														27			12		0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579837	55579837	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55579837G>A	uc001nhw.1	+	0	895	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				AGATGTGAAAGAAGCTCTCAG	0.463000														51			22		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135485428	135485428	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:135485428C>T	uc004ezu.1	+	21	8892	c.8601C>T	c.(8599-8601)atC>atT	p.I2867I	GPR112_uc010nsb.1_Silent_p.I2662I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2867					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A2866T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGGTGGCAATCACAGTCAGTG	0.502000														39			12		0	0	1	0	0
SNAPC2	6618	broad.mit.edu	37	19	7987638	7987638	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7987638C>T	uc002miw.2	+	4	1052	c.994C>T	c.(994-996)Cct>Tct	p.P332S	SNAPC2_uc002mix.2_Non-coding_Transcript	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA.	332					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GGCAGCCACCCCTGCCAGGTG	0.687000														103			39		0	0	1	0	0
GDF11	10220	broad.mit.edu	37	12	56137461	56137461	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56137461G>A	uc001shq.3	+	0	398	c.361G>A	c.(361-363)Ggc>Agc	p.G121S		NM_005811	NP_005802	O95390	GDF11_HUMAN	Homo sapiens growth differentiation factor 11 (GDF11), mRNA.	121					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGACTTCCAGGGCGACGCGCT	0.667000														19			16		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	88123744	88123744	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:88123744G>A	uc001kdl.1	-	1	290	c.189C>T	c.(187-189)tcC>tcT	p.S63S	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	63						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGACCTTGATGGAGTAGGTGA	0.612000										Multiple Myeloma(13;0.14)				65			26		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20480926	20480926	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20480926G>A	uc010bwe.3	+	4	720	c.481G>A	c.(481-483)Gat>Aat	p.D161N	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.D82N|ACSM2A_uc002dhf.4_Missense_Mutation_p.D161N|ACSM2A_uc002dhg.4_Missense_Mutation_p.D161N|ACSM2A_uc010vay.2_Missense_Mutation_p.D82N	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	161					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGTTGCTGGGGATGAAGTCAT	0.448000														139			41		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156828383	156828383	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156828383C>T	uc010pht.2	-	0	330	c.31G>A	c.(31-33)Gca>Aca	p.A11T	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Missense_Mutation_p.A11T|NTRK1_uc001fqh.1_5'Flank|NTRK1_uc001fqi.1_5'Flank|NTRK1_uc009wsk.1_5'Flank	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	11					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCAGGCATGCTCCCCAGGGC	0.617000														80			30		0	0	1	0	0
MMAB	326625	broad.mit.edu	37	12	110009504	110009504	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:110009504G>A	uc001tou.3	-	1	219	c.146C>T	c.(145-147)tCc>tTc	p.S49F	MMAB_uc001tov.3_Non-coding_Transcript|MMAB_uc010sxq.2_5'UTR|MVK_uc001toy.4_5'Flank|MVK_uc009zvk.3_5'Flank|MVK_uc010sxr.2_5'Flank|MVK_uc001toz.4_5'Flank	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	49					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCTTCGAGGAAGGCTGTGG	0.498000														36			9		0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42302216	42302216	+	Silent	SNP	G	A	A	rs116687117	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:42302216G>A	uc003xpe.3	-	5	1047	c.678C>T	c.(676-678)ttC>ttT	p.F226F	SLC20A2_uc010lxl.3_Silent_p.F226F|SLC20A2_uc010lxm.3_Silent_p.F226F|SLC20A2_uc011lcu.2_Silent_p.F28F	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	226					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|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;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAAAAAAAGCGAACAGGAGGG	0.493000														55			31		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129833610	129833610	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:129833610G>A	uc021zfb.1	+	62	9065	c.8960G>A	c.(8959-8961)gGa>gAa	p.G2987E	LAMA2_uc003qbn.3_Missense_Mutation_p.G2985E|LAMA2_uc003qbo.3_Missense_Mutation_p.G2981E|BC035400_uc003qbq.3_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2987	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAAATGGATGGAATGGGTATT	0.388000														106			58		0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310108	56310108	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56310108G>A	uc010rjl.2	-	0	626	c.626C>T	c.(625-627)tCc>tTc	p.S209F	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GATGGTGAGGGAGCTGGAGAG	0.502000														59			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107131123	107131123	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:107131123G>A	uc021ser.1	-	78		c.3755C>T								Parts of antibodies, mostly variable regions.																		TGGAGATGGTGAATCGGCCCT	0.527000														201			24		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92523361	92523361	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92523361G>A	uc001pdj.4	+	6	4605	c.4588G>A	c.(4588-4590)Gac>Aac	p.D1530N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1530	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAGGCCCAGGACAAGCACAT	0.483000										TCGA Ovarian(4;0.039)				119			42		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691100	18691100	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:18691100C>T	uc001rdt.3	+	23	3327	c.3211C>T	c.(3211-3213)Cct>Tct	p.P1071S	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.P1112S|PIK3C2G_uc010sic.2_Missense_Mutation_p.P890S	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1071	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GGACCGAGCTCCTTTCATTTT	0.368000														51			27		0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90321118	90321118	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90321118C>T	uc004apc.3	+	25	3270	c.3132C>T	c.(3130-3132)gtC>gtT	p.V1044V	DAPK1_uc004apd.3_Silent_p.V1044V|DAPK1_uc011ltg.2_Silent_p.V978V|DAPK1_uc011lth.2_Silent_p.V781V|DAPK1_uc004apg.2_Silent_p.V21V	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	1044					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GCACAAACGTCCTGGGGAAGT	0.627000									Chronic Lymphocytic Leukemia, Familial Clustering of					40			10		0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37709492	37709492	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37709492C>T	uc003arf.3	+	12	1241	c.1125C>T	c.(1123-1125)acC>acT	p.T375T	CYTH4_uc011amw.2_Silent_p.T318T	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	375	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CCAGCATCACCCGTGTCCCCT	0.577000														76			24		0	0	1	0	0
IL20	50604	broad.mit.edu	37	1	207041867	207041867	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207041867G>A	uc001her.3	+	4	533	c.489G>A	c.(487-489)ggG>ggA	p.G163G	IL20_uc009xby.3_Silent_p.G138G	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN	Homo sapiens interleukin 20 (IL20), mRNA.	163					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		AGGCTTTGGGGGAACTAGACA	0.473000														22			7		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634069	32634069	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:32634069G>A	uc003zrg.1	-	0	1599	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	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.	503					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)		CATCCCAAATGATATTGTCCT	0.478000														130			36		0	0	1	0	0
NAIF1	203245	broad.mit.edu	37	9	130825767	130825767	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130825767G>A	uc004bta.3	-	1	1143	c.924C>T	c.(922-924)gcC>gcT	p.A308A	NAIF1_uc022bnv.1_5'Flank	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	Homo sapiens nuclear apoptosis inducing factor 1 (NAIF1), mRNA.	308					apoptosis|induction of apoptosis	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGAGGCGGGGGCCGGGTTAG	0.627000														90			25		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36228084	36228084	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36228084C>T	uc021usv.1	+	32	7470	c.7470C>T	c.(7468-7470)ttC>ttT	p.F2490F	MLL2_uc021usu.1_Silent_p.F1304F	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	5319	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ACTATAAGTTCCGTTACCACC	0.632000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				7			5		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77677851	77677851	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77677851G>A	uc011cbx.2	+	7	5912	c.4959G>A	c.(4957-4959)aaG>aaA	p.K1653K	SHROOM3_uc003hkg.3_Silent_p.K1431K	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1653					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GTTTAGAAAAGAAAGTCAGTC	0.493000														78			22		0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415537	88415537	+	Missense_Mutation	SNP	C	T	T	rs140130359		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:88415537C>T	uc010ikm.3	-	4	987	c.415G>A	c.(415-417)Gat>Aat	p.D139N	SPARCL1_uc011cdc.2_Missense_Mutation_p.D14N|SPARCL1_uc003hqs.4_Missense_Mutation_p.D139N|SPARCL1_uc011cdd.2_Missense_Mutation_p.D14N	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	139					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GCCAAAAAATCAGTGTTCTCT	0.378000														119			51		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41725476	41725476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41725476G>A	uc002yyq.1	-	4	1302	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	284	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCGAGGGGCGAATGTTCTCA	0.542000														84			26		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20652291	20652291	+	Silent	SNP	C	T	T	rs143680068	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:20652291C>T	uc001mqd.3	+	9	1827	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	SLC6A5_uc009yic.3_Silent_p.F283F	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	518					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TTGCCGGCTTCGTCATCTTCT	0.493000														100			35		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202287109	202287109	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:202287109G>A	uc001gxu.3	+	17	1678	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	LGR6_uc001gxv.3_Missense_Mutation_p.E508K|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.E421K	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	560						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GTACCTCTTTGAAAGCTGGGG	0.612000														82			35		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72324627	72324627	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72324627C>T	uc002jkm.4	+	1	241	c.103C>T	c.(103-105)Cat>Tat	p.H35Y	KIF19_uc002jkj.2_Missense_Mutation_p.H35Y|KIF19_uc002jkk.2_Missense_Mutation_p.H35Y|KIF19_uc002jkl.2_Missense_Mutation_p.H35Y	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	35	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCTCATCGCCCATAAAGTGGA	0.627000														12			4		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577796	9577796	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9577796G>A	uc002mlp.1	-	9	2037	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	ZNF560_uc010dwr.1_Silent_p.F503F	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGCGTTCTGTGAAGGCTTTTC	0.423000														143			47		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120369247	120369247	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:120369247A>T	uc002tmb.3	+	13	1494	c.382A>T	c.(382-384)Att>Ttt	p.I128F	PCDP1_uc010yyq.2_Missense_Mutation_p.I258F	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	414						cilium	calmodulin binding					Colorectal(110;0.196)					AGGAGATCCTATTTTGGATGA	0.333000														72			28		0	0	1	0	0
LRRC40	55631	broad.mit.edu	37	1	70644631	70644631	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:70644631G>A	uc001der.2	-	5	845	c.707C>T	c.(706-708)cCt>cTt	p.P236L		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	Homo sapiens leucine rich repeat containing 40 (LRRC40), mRNA.	236										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CAATTCAGGAGGTATAGTTTC	0.313000														43			8		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40076668	40076668	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:40076668G>A	uc001rmc.3	+	7	1109	c.942G>A	c.(940-942)agG>agA	p.R314R	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	314								p.R314R(2)		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						ATGAGCAAAGGATAAAGAAAA	0.328000														56			18		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36093535	36093535	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:36093535C>T	uc003gsq.2	-	27	4731	c.4393G>A	c.(4393-4395)Gat>Aat	p.D1465N		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1465	PH 5.				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						AGAAACCCATCTCGTAAAACA	0.328000														69			23		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36271691	36271691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36271691C>T	uc002obs.2	+	9	946	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	ARHGAP33_uc002obr.2_Missense_Mutation_p.P268S|ARHGAP33_uc002obt.2_Missense_Mutation_p.P132S|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	268					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CATCCCGGCTCCCCAGGGTAT	0.622000														95			31		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23871841	23871841	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:23871841C>T	uc003sws.4	+	23	2983	c.2916C>T	c.(2914-2916)ttC>ttT	p.F972F	STK31_uc003swt.4_Silent_p.F949F|STK31_uc011jze.2_Silent_p.F949F|STK31_uc010kuq.3_Silent_p.F949F|STK31_uc003swv.1_Silent_p.F138F	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	972	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGAATGTTTCTTGATGCCAA	0.353000														69			24		0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248486965	248486965	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248486965C>T	uc010pzk.2	-	0	906	c.906G>A	c.(904-906)atG>atA	p.M302I		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M302I(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			CTAAGATTTTCATTAATGCTC	0.403000														60			25		0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53558288	53558288	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:53558288G>A	uc003xre.4	-	15	4519	c.3961C>T	c.(3961-3963)Cga>Tga	p.R1321*	RB1CC1_uc003xrf.4_Nonsense_Mutation_p.R1321*	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	1321					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AAAGATGTTCGAACATTTTGC	0.313000														44			18		0	0	1	0	0
EXOC6	54536	broad.mit.edu	37	10	94708030	94708030	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:94708030G>A	uc010qnr.2	+	15	1502	c.1359_splice	c.e15-1	p.R453_splice	EXOC6_uc001kie.3_Splice_Site_p.R432_splice|EXOC6_uc001kig.3_Splice_Site_p.R437_splice|EXOC6_uc009xub.3_Splice_Site_p.R437_splice|EXOC6_uc009xuc.3_Splice_Site_p.R334_splice|EXOC6_uc001kih.3_Splice_Site|EXOC6_uc001kii.3_Missense_Mutation_p.R11K	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	437					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TTTCCTAACAGGGACATTTTT	0.318000														45			30		0	0	1	0	0
BARHL2	343472	broad.mit.edu	37	1	91177971	91177971	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:91177971C>T	uc001dns.3	-	2	1104	c.1062G>A	c.(1060-1062)cgG>cgA	p.R354R		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.	354						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GCACCAGGGGCCGCTGCAGCT	0.687000														11			4		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670384	134670384	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:134670384C>T	uc003eqt.3	+	2	670	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Missense_Mutation_p.L99F	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	99						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTGCAGCAGCCTCCCTAATGT	0.542000														37			19		0	0	1	0	0
PDCL2	132954	broad.mit.edu	37	4	56435940	56435940	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:56435940C>T	uc003hbb.3	-	3	410	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_152401	NP_689614	Q8N4E4	PDCL2_HUMAN	Homo sapiens phosducin-like 2 (PDCL2), mRNA.	103										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TTTGTGACTTCATTCACATAC	0.279000														7			5		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56382215	56382215	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56382215G>A	uc002qmd.4	+	6	2799	c.2377G>A	c.(2377-2379)Gag>Aag	p.E793K	NLRP4_uc002qmf.3_Missense_Mutation_p.E718K|NLRP4_uc010etf.3_Missense_Mutation_p.E568K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	793							ATP binding	p.E793K(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCACCTCAGCGAGCAGTGCTG	0.493000														55			21		0	0	1	0	0
CORO6	84940	broad.mit.edu	37	17	27943157	27943157	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:27943157G>A	uc002hel.2	-	8	1101	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S	CORO6_uc002hem.3_Missense_Mutation_p.P133S|CORO6_uc002hen.3_Missense_Mutation_p.P133S	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	Homo sapiens coronin 6 (CORO6), mRNA.	367					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						TCCGGGCCTGGCGTATCCGGG	0.662000														14			18		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32752500	32752501	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:32752500_32752501CC>TT	uc001utx.3	+	20	3104_3105	c.2608_2609CC>TT	c.(2608-2610)ccc>TTc	p.P870F	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAAGCACTGCCCCACAGCCCTC	0.559000														137			47		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129030435	129030435	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:129030435C>T	uc003kvb.1	+	18	2823	c.2823C>T	c.(2821-2823)tcC>tcT	p.S941S	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.	941	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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)		CAACAGTGTCCTGCACAAAAA	0.348000														72			22		0	0	1	0	0
EIF2C2	27161	broad.mit.edu	37	8	141542669	141542669	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:141542669G>A	uc003yvn.3	-	17	2358	c.2317C>T	c.(2317-2319)Cgt>Tgt	p.R773C	EIF2C2_uc010meo.3_Missense_Mutation_p.R739C|EIF2C2_uc010men.3_Missense_Mutation_p.R696C	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	773	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GAGGAGAAACGATTGTCGTCC	0.517000														42			21		0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953494	56953494	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56953494G>A	uc002qne.3	-	6	1661	c.870C>T	c.(868-870)ttC>ttT	p.F290F	ZNF667_uc010etl.3_Silent_p.F72F|ZNF667_uc002qnd.3_Silent_p.F290F|ZNF667_uc010etm.3_Silent_p.F233F	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATTTCTTTTTGAAGCCTCTCC	0.358000														135			13		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124766906	124766906	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124766906C>T	uc001qbg.3	-	1	462	c.322G>A	c.(322-324)Gac>Aac	p.D108N	ROBO4_uc010sas.2_5'UTR|ROBO4_uc001qbh.2_Intron|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	108	Ig-like C2-type 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACACCCAGGTCTGTGGACAGG	0.672000														29			12		0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64821816	64821816	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64821816C>T	uc001ocn.3	-	5	914	c.898G>A	c.(898-900)Gga>Aga	p.G300R	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	300	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.N299I(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GCCAAAGTTCCGTTGAGGTTA	0.637000														40			15		0	0	1	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1510897	1510897	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:1510897G>A	uc010xgq.1	-	2	395	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	ADAMTSL5_uc010dsl.2_5'UTR|ADAMTSL5_uc002ltd.2_Missense_Mutation_p.L16F	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	Homo sapiens ADAMTS-like 5 (ADAMTSL5), mRNA.	16						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		AAGAGCAGGAGGTTCTGGAAG	0.652000														13			5		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169494601	169494601	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:169494601G>A	uc003maf.3	+	44	4635	c.4555G>A	c.(4555-4557)Gat>Aat	p.D1519N	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.D1011N|DOCK2_uc003mah.3_Missense_Mutation_p.D75N	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1519	DHR-2.				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			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)			GTACCAGAGTGATGAGACCCT	0.493000														106			29		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612096	189612096	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:189612096C>T	uc003fry.2	+	13	1937	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Silent_p.L522L|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Silent_p.L437L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	616	Transactivation inhibition.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTTCTCATCTCCTGCGGACCC	0.572000										HNSCC(45;0.13)				88			25		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196871677	196871677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:196871677C>T	uc001gtp.3	+	1	325	c.188C>T	c.(187-189)cCt>cTt	p.P63L	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.P62L|CFH_uc001gto.3_Missense_Mutation_p.P63L	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	364	Sushi 1.				complement activation, alternative pathway	extracellular space		p.V62I(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTTGTGACTCCTTCAGGAAGT	0.398000														158			56		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96937849	96937849	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:96937849G>A	uc001yfn.2	+	12	1436	c.1392G>A	c.(1390-1392)atG>atA	p.M464I		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	464	Adenylate kinase.				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)		TTAGATTTATGAAAGAAAAGC	0.289000														52			22		0	0	1	0	0
WRB	7485	broad.mit.edu	37	21	40765134	40765134	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:40765134C>T	uc002yxs.3	+	3	477	c.379C>T	c.(379-381)Cct>Tct	p.P127S	WRB_uc002yxt.4_Missense_Mutation_p.P93S|WRB_uc010goj.3_Non-coding_Transcript	NM_004627	NP_001139690	O00258	WRB_HUMAN	Homo sapiens tryptophan rich basic protein (WRB), transcript variant 1, mRNA.	127						integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				TTATTCTGTCCCTGTGGCTGT	0.498000														64			22		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61742998	61742998	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:61742998C>T	uc003xue.3	+	14	4132	c.3640C>T	c.(3640-3642)Cag>Tag	p.Q1214*	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1214			Q -> R (in CHARGES).		T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AACAAACATTCAGAAGAAATA	0.378000														109			39		0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22806109	22806109	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:22806109G>A	uc002kvk.2	-	3	2020	c.1773C>T	c.(1771-1773)gcC>gcT	p.A591A	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.A591A|ZNF521_uc002kvl.2_Silent_p.A371A	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	591					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TATAATTCAGGGCCAAGGGAA	0.413000			T	PAX5	ALL									55			26		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179408964	179408964	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179408964C>T	uc021vsy.1	-	293	88513	c.88288G>A	c.(88288-88290)Gaa>Aaa	p.E29430K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E23125K|TTN_uc021vta.1_Missense_Mutation_p.E23058K|TTN_uc021vtb.1_Missense_Mutation_p.E22933K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30357	Fibronectin type-III 114.						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)			GCAATTGATTCGCTGTATTCG	0.383000														52			21		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98421634	98421634	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:98421634C>T	uc002syh.4	-	21	2548	c.2319G>A	c.(2317-2319)caG>caA	p.Q773Q		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	773						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ACATATCTTCCTGCATGGCTA	0.408000														30			6		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234862561	234862561	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234862561C>T	uc002vvh.3	+	10	1181	c.1141_splice	c.e10-1	p.L381_splice	TRPM8_uc010fyj.3_Splice_Site_p.L69_splice	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	381						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATTTCGCCAGCTCAAAGAAAT	0.373000														29			12		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92600189	92600189	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92600189G>A	uc001pdj.4	+	20	11958	c.11941G>A	c.(11941-11943)Ggc>Agc	p.G3981S	FAT3_uc001pdi.4_Missense_Mutation_p.G421S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3981	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGTGCTCAGCGGCTTCCAGGG	0.617000										TCGA Ovarian(4;0.039)				6			4		0	0	1	0	0
O3FAR1	338557	broad.mit.edu	37	10	95338948	95338948	+	Silent	SNP	C	T	T	rs140807207	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95338948C>T	uc010qnt.2	+	2	785	c.729C>T	c.(727-729)gtC>gtT	p.V243V	O3FAR1_uc010qnu.2_Intron	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	243					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding			breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						CAAGAGCTGTCGTGACTCACA	0.493000														64			22		0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14489121	14489121	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:14489121C>T	uc010heg.3	+	4	695	c.396C>T	c.(394-396)tcC>tcT	p.S132S	SLC6A6_uc003byp.3_Silent_p.S132S|SLC6A6_uc010hef.1_Non-coding_Transcript|SLC6A6_uc003byq.3_Silent_p.S132S|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	132					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	p.S132F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TAATTGTGTCCCTCCTGAATG	0.542000														577			47		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73068427	73068427	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73068427G>A	uc004ebm.1	-	0		c.4162C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CCTTTCTAATGGACAGGACTC	0.433000														5			9		0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175467	159175467	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159175467C>T	uc001ftp.4	+	0	419	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F	DARC_uc001fto.3_Missense_Mutation_p.L80F	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	80					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	p.F81V(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CAGCACTGTCCTCTTCATGCT	0.592000														173			15		0	0	1	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6525594	6525594	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6525594G>A	uc001anh.3	-	1	154	c.66C>T	c.(64-66)gcC>gcT	p.A22A	TNFRSF25_uc001ana.3_Silent_p.A22A|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_5'UTR|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Silent_p.A22A|TNFRSF25_uc001anf.3_Silent_p.A22A|TNFRSF25_uc001ang.3_Silent_p.A22A|TNFRSF25_uc001ani.1_Silent_p.A22A	NM_148965	NP_683866	Q93038	TNR25_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.	22					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGGGCCCGGGCCCCCAGCA	0.652000														23			14		0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164534538	164534538	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:164534538C>T	uc003iqs.2	-	4	352	c.170G>A	c.(169-171)aGc>aAc	p.S57N	MARCH1_uc003iqr.2_Missense_Mutation_p.S40N	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	57	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)				TGTTGTTGGGCTGCTTGCCTG	0.403000														84			37		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158284011	158284011	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:158284011G>A	uc003ipm.4	+	14	2926	c.2467G>A	c.(2467-2469)Ggc>Agc	p.G823S	GRIA2_uc011cit.2_Missense_Mutation_p.G776S|GRIA2_uc003ipl.4_Missense_Mutation_p.G823S|GRIA2_uc003ipk.4_Missense_Mutation_p.G776S|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	823					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CCTTGTCGGGGGCCTTGGTTT	0.453000														99			15		0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41792152	41792152	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:41792152G>A	uc010lxb.3	-	17	4130	c.3586C>T	c.(3586-3588)Cct>Tct	p.P1196S	KAT6A_uc010lxc.3_Missense_Mutation_p.P1196S|KAT6A_uc003xon.4_Missense_Mutation_p.P1196S	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1196					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CCAGCTTTAGGAATGGAAACG	0.483000														140			25		0	0	1	0	0
CLK2P	1197	broad.mit.edu	37	7	23625451	23625451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:23625451C>T	uc003swk.2	-	0	696	c.46G>A	c.(46-48)Gag>Aag	p.E16K						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		CCCAGAAGCTCCAAGGAGATA	0.532000														35			14		0	0	1	0	0
SNORD109B	338429	broad.mit.edu	37	15	25287187	25287187	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:25287187C>T	uc001yxf.1	+	1		c.67_splice	c.e1+1							Homo sapiens small nucleolar RNA, C/D box 109B (SNORD109B), small nucleolar RNA.																		ATCTGAGGTCCAGATGTGTGG	0.468000														22			6		0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50388763	50388763	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:50388763G>A	uc021thx.1	-	2	489	c.329C>T	c.(328-330)cCt>cTt	p.P110L	BRD7_uc002ege.2_Missense_Mutation_p.P110L	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA.	110					Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TAATCTCACAGGGGCGTGACA	0.443000														116			28		0	0	1	0	0
BTN2A1	11120	broad.mit.edu	37	6	26463639	26463639	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:26463639C>T	uc003nib.2	+	3	846	c.598C>T	c.(598-600)Ctc>Ttc	p.L200F	BTN2A1_uc021yni.1_Missense_Mutation_p.L200F|BTN2A1_uc003nic.2_Missense_Mutation_p.L200F|BTN2A1_uc011dko.2_Missense_Mutation_p.L139F	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	200					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGCAGACGGCCTCTTCATGGT	0.557000														114			38		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50537852	50537852	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:50537852C>T	uc003tpg.4	-	11	1260	c.1059G>A	c.(1057-1059)ctG>ctA	p.L353L	DDC_uc022ade.1_Silent_p.L275L|DDC_uc003tpf.4_Silent_p.L353L|DDC_uc022adb.1_Silent_p.L315L|DDC_uc022adc.1_Silent_p.L305L|DDC_uc022add.1_Silent_p.L260L	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	353					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ATCTTCTGCCCAGTGGTATCT	0.418000														97			32		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105105720	105105720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:105105720C>T	uc003yls.3	+	20	2984	c.2743C>T	c.(2743-2745)Cat>Tat	p.H915Y	RIMS2_uc003ylp.3_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.H988Y|RIMS2_uc003ylq.3_Intron|RIMS2_uc003ylr.3_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	369					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)			ATGGGATCCTCATAGAGGGGC	0.398000										HNSCC(12;0.0054)				98			41		0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	64981483	64981483	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64981483C>T	uc021qlg.1	+	0	173	c.140C>T	c.(139-141)cCc>cTc	p.P47L	SLC22A20_uc021qlh.1_5'UTR	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 1, mRNA.	45					ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GCCGCTGTCCCCCCCCACCAC	0.692000														12			5		0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100055656	100055656	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:100055656G>A	uc002tad.3	-	5	832	c.620C>T	c.(619-621)tCt>tTt	p.S207F	REV1_uc002tac.3_Missense_Mutation_p.S207F|REV1_uc002tae.1_Missense_Mutation_p.S186F	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	207					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						CCTTCCCGGAGAGGTCTGCTC	0.418000								Direct reversal of damage						49			11		0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125621386	125621386	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:125621386C>T	uc001uhc.3	+	16	2063	c.1857C>T	c.(1855-1857)ctC>ctT	p.L619L	AACS_uc001uhd.3_Intron|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_Silent_p.L217L	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	619					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGCCCAGCCTCATCCTGGAAA	0.632000														44			20		0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3108551	3108551	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3108551G>A	uc002cth.3	+	8	1535	c.1298G>A	c.(1297-1299)gGc>gAc	p.G433D	BC045731_uc002ctj.1_Intron	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	Homo sapiens matrix metallopeptidase 25 (MMP25), mRNA.	433	Hemopexin-like 3.				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CTGGTCCGCGGCCGGCAGTAC	0.751000														10			5		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1017688	1017688	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1017688C>T	uc001lsw.2	-	30	5164	c.5113G>A	c.(5113-5115)Gaa>Aaa	p.E1705K		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1705	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGGTGGCTTCAGCATGGTGT	0.557000														620			79		0	0	1	0	0
TMEM59L	25789	broad.mit.edu	37	19	18731332	18731332	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18731332C>T	uc002njy.4	+	7	1102	c.1015C>T	c.(1015-1017)Ctg>Ttg	p.L339L		NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	339						Golgi membrane|integral to membrane|membrane fraction		p.D338E(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GAAGCTGGACCTGACCAAGCT	0.662000														51			18		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	98002508	98002508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98002508C>T	uc001kls.4	-	2	324	c.146G>A	c.(145-147)cGa>cAa	p.R49Q	BLNK_uc001kme.4_Intron|BLNK_uc001klt.4_Intron|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_Intron|BLNK_uc001klv.4_Missense_Mutation_p.R49Q|BLNK_uc001klw.4_Intron|BLNK_uc001klx.4_Missense_Mutation_p.R49Q|BLNK_uc001kly.4_Missense_Mutation_p.R49Q|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.R49Q|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_Intron|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	49					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GTAGTCCCTTCGAGGAACACT	0.388000														81			44		0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57117372	57117373	+	Splice_Site	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57117372_57117373GG>AA	uc001nju.3	+	7	889	c.705_splice	c.e7+1	p.T235_splice		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	235					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						TGGCGCGCACGGTGAGGACCTA	0.639000											OREG0020966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064305	9064305	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9064305G>A	uc002mkp.3	-	2	23345	c.23141C>T	c.(23140-23142)cCc>cTc	p.P7714L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7716	Ser-rich.|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						CACAGGAAGGGGAGAGGGGGG	0.537000														59			29		0	0	1	0	0
CHST10	9486	broad.mit.edu	37	2	101012051	101012051	+	Silent	SNP	G	A	A	rs138672369		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:101012051G>A	uc002tam.3	-	5	851	c.453C>T	c.(451-453)atC>atT	p.I151I		NM_004854	NP_004845	O43529	CHSTA_HUMAN	Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.	151					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CGTTTTCGGGGATCTCCTCAA	0.522000														77			28		0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64668705	64668705	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:64668705G>A	uc021qzu.1	-	10	1560	c.1560C>T	c.(1558-1560)tcC>tcT	p.S520S	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Silent_p.S360S|C12orf56_uc001srz.3_Silent_p.S2S|C12orf56_uc001sry.3_Silent_p.S102S	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	523										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)		TTTGTAGAAAGGACATTATCC	0.353000														72			18		0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161753803	161753803	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161753803C>T	uc001gbs.3	+	3	388	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	ATF6_uc001gbq.2_Nonsense_Mutation_p.Q91*	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	91	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GGCAGAACCTCAGCCACTTTC	0.398000														164			42		0	0	1	0	0
C20orf85	128602	broad.mit.edu	37	20	56735761	56735761	+	Silent	SNP	C	T	T	rs61749694	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:56735761C>T	uc002xyv.3	+	3	335	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	Homo sapiens chromosome 20 open reading frame 85 (C20orf85), mRNA.	99			I -> V (in dbSNP:rs17440813).							kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			AGGGCTTCATCGGCTGGAGAT	0.577000														43			7		0	0	1	0	0
CELA2A	63036	broad.mit.edu	37	1	15789234	15789234	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:15789234C>T	uc001awk.3	+	3	260	c.234C>T	c.(232-234)tcC>tcT	p.S78S		NM_033440	NP_254275	P08217	CEL2A_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2A (CELA2A), mRNA.	78	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CCAGCTCCTCCAGGACCTACC	0.617000														100			39		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171173052	171173052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171173052G>A	uc001ghk.1	+	5	793	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	FMO2_uc010pmd.1_Missense_Mutation_p.E6K	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	226					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCGTATCTCTGAAGATGGCTA	0.468000														57			17		0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1943501	1943501	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:1943501C>T	uc001qjt.2	+	4	1533	c.727C>T	c.(727-729)Ccc>Tcc	p.P243S	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.P243S|LRTM2_uc010sdx.1_Missense_Mutation_p.P243S|LRTM2_uc001qjv.2_Missense_Mutation_p.P5S	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	243	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCGGATGGTCCCCATGGAGAT	0.602000														44			13		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835344	38835344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38835344G>A	uc003ciq.3	-	0	158	c.158C>T	c.(157-159)cCc>cTc	p.P53L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	53					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTCCAGCTGGGGCCGAGGCTT	0.542000														119			61		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856572	54856572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:54856572C>T	uc002rxu.3	+	13	2550	c.2301C>T	c.(2299-2301)gtC>gtT	p.V767V	SPTBN1_uc002rxv.1_Silent_p.V767V|SPTBN1_uc002rxx.3_Silent_p.V754V	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	767					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TCAAGATTGTCTCCAGCAGCG	0.562000														67			22		0	0	1	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998909	8998909	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:8998909G>A	uc022arp.1	-	0	253	c.253C>T	c.(253-255)Ccg>Tcg	p.P85S	PPP1R3B_uc003wsn.4_Missense_Mutation_p.P85S|PPP1R3B_uc003wso.4_Missense_Mutation_p.P85S	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.	85					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ATATCTAGCGGGTCATCGAAT	0.532000														124			10		0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586169	20586169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20586169C>T	uc001vwo.1	+	0	604	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTTTTGTGGTCCCAATGTGGT	0.438000														153			65		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645662	45645662	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:45645662G>A	uc003jok.3	-	1	499	c.474C>T	c.(472-474)gtC>gtT	p.V158V		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	158						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGGTATGATGACTAGATTTC	0.318000														66			30		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70949081	70949081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70949081G>A	uc001swb.4	-	17	4378	c.4348C>T	c.(4348-4350)Cct>Tct	p.P1450S	PTPRB_uc010sto.2_Missense_Mutation_p.P1360S|PTPRB_uc010stp.2_Missense_Mutation_p.P1360S|PTPRB_uc001swc.4_Missense_Mutation_p.P1668S|PTPRB_uc001swa.4_Missense_Mutation_p.P1580S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1450	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGGGGTGGAGGAGGGGGGCCT	0.483000														14			4		0	0	1	0	0
HMP19	51617	broad.mit.edu	37	5	173531281	173531281	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:173531281C>T	uc003mcx.3	+	3	409	c.264C>T	c.(262-264)ttC>ttT	p.F88F	HMP19_uc011dfh.2_5'UTR	NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	Homo sapiens HMP19 protein (HMP19), mRNA.	88					dopamine receptor signaling pathway	Golgi cisterna membrane|cytoplasmic vesicle membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)	15	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCATCGTGTTCCTGGTGGTTT	0.498000														57			30		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941152	144941152	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144941152C>T	uc003zaa.1	-	0	6283	c.6270G>A	c.(6268-6270)cgG>cgA	p.R2090R		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2090						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.R2090Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTCGGAGTCCCGTGCAGCCT	0.597000														121			14		0	0	1	0	0
BSND	7809	broad.mit.edu	37	1	55473947	55473947	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55473947G>A	uc001cye.3	+	3	852	c.609G>A	c.(607-609)atG>atA	p.M203I		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	203						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						ACCTGGACATGGACTCCAGTG	0.617000														39			16		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28649024	28649024	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28649024C>T	uc002kwl.4	-	14	2798	c.2344G>A	c.(2344-2346)Gag>Aag	p.E782K	DSC2_uc002kwk.4_Missense_Mutation_p.E782K	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	782					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCGATGGTCTCCTGACCTCCG	0.567000														48			23		0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50521574	50521574	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50521574G>A	uc003bjg.1	-	2	479	c.206C>T	c.(205-207)tCg>tTg	p.S69L	MLC1_uc011arl.1_Missense_Mutation_p.S69L|MLC1_uc003bjh.1_Missense_Mutation_p.S69L|MLC1_uc011arm.1_Intron|MLC1_uc011arn.1_5'UTR|MLC1_uc011aro.1_Missense_Mutation_p.S69L	NM_139202	NP_631941	Q15049	MLC1_HUMAN	Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA.	69						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CAGGTACAGCGAAAACCCCGA	0.607000														72			26		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84366585	84366585	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:84366585C>T	uc021zcf.1	-	6	577	c.547_splice	c.e6-1	p.V183_splice	SNAP91_uc003pka.3_Splice_Site_p.V183_splice|SNAP91_uc011dze.2_Splice_Site_p.V183_splice|SNAP91_uc003pkc.3_Splice_Site_p.V183_splice|SNAP91_uc003pkd.3_Splice_Site_p.V183_splice|SNAP91_uc003pkb.3_Splice_Site_p.V148_splice|SNAP91_uc011dzf.1_Splice_Site_p.V64_splice	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	183					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TTGGATGCACCTAGAAAAACA	0.289000														9			5		0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185232257	185232257	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:185232257C>T	uc003fpm.3	-	7	1145	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G	LIPH_uc010hyh.3_Silent_p.G311G	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	345					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TGGTAATGTCCCCTCTTCTTA	0.378000														86			26		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72039235	72039235	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72039235C>T	uc002atb.1	+	11	2174	c.2095C>T	c.(2095-2097)Cgc>Tgc	p.R699C	THSD4_uc002ate.2_Missense_Mutation_p.R339C	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	699	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CATGCAGCACCGCCAGGTTCT	0.622000														72			12		0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405072	68405072	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:68405072C>T	uc002ewa.3	-	2	1435	c.1013G>A	c.(1012-1014)aGg>aAg	p.R338K	SMPD3_uc010cfe.3_Missense_Mutation_p.R338K|SMPD3_uc010vlh.2_Missense_Mutation_p.R338K	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	338					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GGGGTGCCGCCTCCTGCGTGC	0.662000														31			16		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63966615	63966615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:63966615C>T	uc002amp.3	-	37	7920	c.7772G>A	c.(7771-7773)cGa>cAa	p.R2591Q		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2591					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGCTTGCGCTCGTTCCAGATC	0.448000														67			11		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61562572	61562572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61562572C>T	uc010xeu.2	+	3	576	c.243C>T	c.(241-243)ttC>ttT	p.F81F	SERPINB2_uc002ljo.3_Silent_p.F81F|SERPINB2_uc002ljp.1_5'Flank|SERPINB2_uc002ljq.1_5'Flank	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	81					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.G80W(1)		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)	GCTGTGGGTTCATGCAGCAGA	0.433000														135			70		0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824694	54824694	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:54824694C>T	uc002xxb.2	+	0	907	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	302					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TGGTCCTCATCATCACCTGCC	0.562000														89			57		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198651	20198651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:20198651C>T	uc003sus.4	-	4	1642	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	MACC1_uc010kug.3_Missense_Mutation_p.E445K	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	445					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTCTTTACTTCAAAATCAGGA	0.353000														69			16		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171080016	171080016	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171080016C>T	uc001ghi.3	+	5	816	c.705C>T	c.(703-705)ctC>ctT	p.L235L	FMO3_uc001ghh.3_Silent_p.L235L|FMO3_uc010pmb.2_Silent_p.L215L|FMO3_uc010pmc.2_Silent_p.L172L	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	235					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACATGCTGCTCGTCACTCGAT	0.463000														159			67		0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30066932	30066932	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:30066932G>A	uc001wqh.3	-	15	2380	c.2199C>T	c.(2197-2199)atC>atT	p.I733I	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	733	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.R732L(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCTCTCCAATGATCCGGGCAA	0.468000														50			26		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3248121	3248121	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:3248121C>T	uc004crg.4	-	3	804	c.647G>A	c.(646-648)gGa>gAa	p.G216E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	216						extracellular region				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)				CCACGGATTTCCCTGCAAGTA	0.488000														9			5		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921215	24921215	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24921215C>T	uc001ywo.3	+	0	675	c.201C>T	c.(199-201)gcC>gcT	p.A67A		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	67					cell differentiation|multicellular organismal development|spermatogenesis			p.V66V(2)		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)		TCTTCGTCGCCCCTAAGAGGC	0.716000														35			8		0	0	1	0	0
SERPINA13	388007	broad.mit.edu	37	14	95109994	95109994	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:95109994C>T	uc001ydt.3	+	2	1031	c.943C>T	c.(943-945)Ccc>Tcc	p.P315S						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						CTTCATCTTCCCCAACAGGGG	0.587000														26			11		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220500079	220500079	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220500079C>T	uc002vmo.4	+	12	2123	c.1914C>T	c.(1912-1914)atC>atT	p.I638I	SLC4A3_uc002vmp.4_Silent_p.I611I|SLC4A3_uc010fwm.3_Silent_p.I161I|SLC4A3_uc010fwn.1_Silent_p.I120I	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	611					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCATTGTGATCCCCCCGTCCG	0.612000														60			25		0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617553	54617553	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:54617553C>T	uc022adk.1	+	3	729	c.324C>T	c.(322-324)atC>atT	p.I108I	VSTM2A_uc010kzf.3_Silent_p.I108I	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	108	Ig-like V-type.					extracellular region		p.I107I(2)|p.I108I(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCAATGACATCTCCCACAAGC	0.408000														24			10		0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135073590	135073590	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135073590C>T	uc004cbh.2	+	2	1227	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	151	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGTCATGGTCCTGGAGAAGTC	0.652000														39			14		0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50944496	50944496	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50944496G>A	uc003blp.2	-	4	773	c.742C>T	c.(742-744)Cga>Tga	p.R248*	LMF2_uc003blo.2_Nonsense_Mutation_p.R223*|NCAPH2_uc003blq.4_5'Flank|NCAPH2_uc003blv.3_5'Flank|NCAPH2_uc003blx.4_5'Flank|NCAPH2_uc003blr.4_5'Flank	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	248						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGCAGGCGTCGAATGGGGGCG	0.647000														3			5		0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29793298	29793298	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29793298C>T	uc002kxj.4	+	10	1402	c.1355C>T	c.(1354-1356)cCa>cTa	p.P452L		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	452	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TATAGCCCTCCATTTTACTCT	0.408000														31			4		0	0	1	0	0
PRRX2	51450	broad.mit.edu	37	9	132483027	132483027	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:132483027C>T	uc004byh.3	+	2	827	c.600C>T	c.(598-600)ctC>ctT	p.L200L		NM_016307	NP_057391	Q99811	PRRX2_HUMAN	Homo sapiens paired related homeobox 2 (PRRX2), mRNA.	200						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				CAGATTATCTCTCCTGGACAG	0.662000														53			15		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27333047	27333047	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:27333047G>A	uc003cdt.2	-	17	1678	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	NEK10_uc003cds.1_5'UTR	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	468							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTATGTCAATGAAGATCTCAA	0.348000														21			11		0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92470193	92470193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:92470193G>A	uc001xzy.3	-	10	4501	c.4127C>T	c.(4126-4128)tCg>tTg	p.S1376L	TRIP11_uc010auf.2_Missense_Mutation_p.S1112L	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	1376					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GGCAGCAATCGAATCAGACAA	0.378000			T	PDGFRB	AML									105			49		0	0	1	0	0
ABHD5	51099	broad.mit.edu	37	3	43753352	43753352	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:43753352T>G	uc003cmx.3	+	3	768	c.658T>G	c.(658-660)Ttt>Gtt	p.F220V		NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN	Homo sapiens abhydrolase domain containing 5 (ABHD5), mRNA.	220					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		TGCAGGACCCTTTGGTGAGTG	0.403000														113			52		0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151747249	151747249	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151747249G>A	uc009wnb.1	-	11	1752	c.1570C>T	c.(1570-1572)Ctc>Ttc	p.L524F	TDRKH_uc001eyy.2_Missense_Mutation_p.L300F|TDRKH_uc001ezb.4_Missense_Mutation_p.L520F|TDRKH_uc001ezc.4_Missense_Mutation_p.L479F|TDRKH_uc001eza.4_Missense_Mutation_p.L524F|TDRKH_uc001ezd.4_Missense_Mutation_p.L524F|TDRKH_uc010pdn.1_Missense_Mutation_p.L300F	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	524							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTCTCAGTGAGCAACGTGCTG	0.468000														142			55		0	0	1	0	0
STK4	6789	broad.mit.edu	37	20	43610524	43610524	+	Silent	SNP	C	T	T	rs138052948		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43610524C>T	uc002xnb.3	+	3	390	c.300C>T	c.(298-300)atC>atT	p.I100I	STK4_uc010ggx.3_Silent_p.I100I|STK4_uc010ggy.3_Silent_p.I100I|STK4_uc010ggw.1_Silent_p.I100I	NM_006282	NP_006273	Q13043	STK4_HUMAN	Homo sapiens serine/threonine kinase 4 (STK4), mRNA.	100	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	p.I100I(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				ACTTATGGATCGTTATGGAGT	0.363000														54			32		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60899610	60899610	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:60899610C>T	uc002ycq.3	-	42	5597	c.5530_splice	c.e42-1	p.E1844_splice	LAMA5_uc021wfw.1_Splice_Site_p.E1844_splice	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1844	Laminin EGF-like 16; second part.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGGCACATTCCTGAGGGTGT	0.627000														11			9		0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223795394	223795394	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:223795394C>T	uc002vni.3	+	13	2047	c.1596C>T	c.(1594-1596)ggC>ggT	p.G532G	ACSL3_uc002vnj.3_Silent_p.G532G	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	532					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTATTGGGGGCCAAAGTGTGA	0.363000			T	ETV1	prostate									31			18		0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138633243	138633243	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:138633243T>A	uc004fas.1	+	5	572	c.543T>A	c.(541-543)gtT>gtA	p.V181V	F9_uc004fat.1_Silent_p.V143V	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	181					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GTGGAAGAGTTTCTGTTTCAC	0.348000														17			28		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159654630	159654630	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:159654630C>T	uc010kjv.3	+	10	3286	c.3086C>T	c.(3085-3087)tCc>tTc	p.S1029F	FNDC1_uc010kjw.1_Missense_Mutation_p.S914F	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1029						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGGTCACCTTCCCAGCCCAGG	0.736000														5			4		0	0	1	0	0
PYGO1	26108	broad.mit.edu	37	15	55839150	55839150	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:55839150G>A	uc002adf.1	-	2	331	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S	PYGO1_uc010bfl.1_Missense_Mutation_p.P111S	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.	111	Pro-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		ATTCTTGGGGGAACGTGAGGT	0.473000														133			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167176	140167176	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140167176C>T	uc003lhb.2	+	0	1301	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	PCDHAC2_uc003lha.2_Missense_Mutation_p.S434L|PCDHAC2_uc003lgz.3_Missense_Mutation_p.S434L	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	448	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)			GGCTCGCCTTCGCTGTGGGCC	0.627000														151			48		0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67680152	67680152	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67680152G>A	uc002etn.3	+	4	433	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	RLTPR_uc010cel.1_Missense_Mutation_p.E105K|RLTPR_uc010vjr.2_Missense_Mutation_p.E105K	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	105										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGCCGCCCTGGAACAGCTGGC	0.637000														22			15		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42368140	42368140	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:42368140G>A	uc001wvm.3	+	4	3317	c.2119G>A	c.(2119-2121)Gac>Aac	p.D707N	LRFN5_uc010ana.3_3'UTR	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	707						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GACTAATGTTGACCAGATTGT	0.284000										HNSCC(30;0.082)				132			19		0	0	1	0	0
TPST2	8459	broad.mit.edu	37	22	26936880	26936880	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26936880C>T	uc003acw.3	-	2	1058	c.717G>A	c.(715-717)gaG>gaA	p.E239E	TPST2_uc003acx.3_Silent_p.E239E|TPST2_uc011akf.1_Silent_p.E239E	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	239					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						GCACCAGCTGCTCGTAGTACA	0.597000														51			18		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42279563	42279563	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42279563C>T	uc021sjp.1	-	16	1842	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	PLA2G4E_uc010udc.2_Silent_p.P57P|PLA2G4E_uc001zov.2_Silent_p.P238P	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	602	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CAGGCAGGATCGGCTCGTCTT	0.562000														24			10		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559623	44559623	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:44559623C>T	uc002lcr.1	-	0	2366	c.2013G>A	c.(2011-2013)gaG>gaA	p.E671E	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	671					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGGCTTGATCTCCCCATTTT	0.582000														96			35		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121326189	121326189	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:121326189G>A	uc003yox.3	+	37	4739	c.4474G>A	c.(4474-4476)Ggt>Agt	p.G1492S	COL14A1_uc003yoz.3_Missense_Mutation_p.G457S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1492	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGGCCCTCGGGGTGAAATTGG	0.473000														157			39		0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367139	105367139	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:105367139C>T	uc003ylx.1	+	2	1113	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	355					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CATGATTCTTCCTTTAATATA	0.333000														44			16		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15686188	15686188	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15686188C>T	uc001ioc.1	-	12	1240	c.1240G>A	c.(1240-1242)Gat>Aat	p.D414N	ITGA8_uc010qcb.1_Missense_Mutation_p.D399N	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	414					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCTCTTTGATCCTTGCCTGCA	0.398000														32			21		0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52698736	52698736	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52698736C>T	uc010snq.2	+	4	793	c.660C>T	c.(658-660)ctC>ctT	p.L220L	KRT86_uc009zmg.3_Silent_p.L220L|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Silent_p.L220L	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	220	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGCCTACCTCCGCAAATCAG	0.597000														187			46		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124750348	124750348	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124750348C>T	uc001qbc.3	+	26	4162	c.3993C>T	c.(3991-3993)ttC>ttT	p.F1331F	ROBO3_uc001qbd.2_Silent_p.F256F|ROBO3_uc010sar.2_Silent_p.F380F|ROBO3_uc001qbe.3_Silent_p.F256F|ROBO3_uc001qbf.1_Silent_p.F215F	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	1331					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GACCAAGCTTCCTGTCCCGGG	0.662000														21			7		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36158063	36158063	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:36158063C>T	uc021rid.1	+	45	7598	c.7064C>T	c.(7063-7065)gCt>gTt	p.A2355V	NBEA_uc021ric.1_Missense_Mutation_p.A2352V|NBEA_uc010abi.3_Missense_Mutation_p.A1011V|NBEA_uc010tee.1_Missense_Mutation_p.A148V|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.A148V|NBEA_uc010teg.1_Missense_Mutation_p.A148V	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2355	BEACH.					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)		CCCAAGAGAGCTGTGTTTTAT	0.333000														92			21		0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98209632	98209632	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:98209632G>A	uc004avk.4	-	22	4094	c.3906C>T	c.(3904-3906)ccC>ccT	p.P1302P	PTCH1_uc010mrn.3_Silent_p.P94P|PTCH1_uc010mro.3_Silent_p.P1151P|PTCH1_uc010mrp.3_Silent_p.P1151P|PTCH1_uc010mrq.3_Silent_p.P1151P|PTCH1_uc004avl.4_Silent_p.P1151P|PTCH1_uc004avm.4_Silent_p.P1301P|PTCH1_uc010mrr.3_Silent_p.P1236P	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1302					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.P1302H(4)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGTCCCTGCGGGGCTGCTGGC	0.632000														69			27		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30971164	30971164	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:30971164C>T	uc002yno.1	-	7	1656	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	GRIK1_uc002ynn.3_Missense_Mutation_p.E398K|GRIK1_uc011acs.2_Missense_Mutation_p.E398K|GRIK1_uc011act.2_Missense_Mutation_p.E342K|GRIK1_uc010glq.1_Missense_Mutation_p.E256K|GRIK1_uc002ynr.3_Missense_Mutation_p.E398K|GRIK1-AS2_uc002ynp.1_Intron	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	398					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCAGTTCCTTCCTCTTTGAGA	0.368000														84			32		0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994845	11994845	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:11994845C>T	uc003wvc.1	-	0	1425	c.1425G>A	c.(1423-1425)atG>atA	p.M475I	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	475					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GATGGTTTTTCATCCCACACT	0.493000														15			24		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220348138	220348138	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220348138G>A	uc010fwg.3	+	29	5953	c.5953G>A	c.(5953-5955)Gag>Aag	p.E1985K		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1985					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCAGGACCAGGAGGCTCCCAG	0.711000														8			4		0	0	1	0	0
O3FAR1	338557	broad.mit.edu	37	10	95347184	95347184	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95347184C>T	uc010qnt.2	+	3	1008	c.952C>T	c.(952-954)Ctc>Ttc	p.L318F	O3FAR1_uc010qnu.2_Missense_Mutation_p.L302F	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	318					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding			breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						CTGGCCGTCCCTCTTCTTCTG	0.488000														255			60		0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133698359	133698359	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:133698359C>T	uc003eqa.4	-	1	474	c.200G>A	c.(199-201)aGt>aAt	p.S67N	SLCO2A1_uc011blv.2_Missense_Mutation_p.S67N|SLCO2A1_uc010htw.1_5'UTR	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	67					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CGATGAAGAACTGGAGAGCCC	0.547000														109			41		0	0	1	0	0
SNX24	28966	broad.mit.edu	37	5	122343382	122343382	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:122343382C>T	uc011cwo.2	+	6	617	c.448C>T	c.(448-450)Cca>Tca	p.P150S	SNX24_uc010jcy.3_3'UTR	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	Homo sapiens sorting nexin 24 (SNX24), mRNA.	150					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		ttCAGATTTTCCAAATGTGGT	0.333000														79			39		0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080324	70080324	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:70080324C>T	uc003heh.3	-	0	126	c.117G>A	c.(115-117)atG>atA	p.M39I	AK124272_uc003hei.1_Non-coding_Transcript	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	39					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						GGATTGTCTTCATATTCATCC	0.443000														259			99		0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79760663	79760663	+	Silent	SNP	C	T	T	rs151300850	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:79760663C>T	uc002bew.1	+	3	2763	c.2688C>T	c.(2686-2688)atC>atT	p.I896I	KIAA1024_uc010unk.1_3'UTR	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	896						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CTGCTCTGATCGCTGCTGCGG	0.458000														42			9		0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40301883	40301883	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40301883C>T	uc001zkm.1	+	25	3695	c.3645C>T	c.(3643-3645)atC>atT	p.I1215I	EIF2AK4_uc010bbj.1_Silent_p.I916I|EIF2AK4_uc001zkn.1_Silent_p.I315I|EIF2AK4_uc001zko.1_Silent_p.I153I|EIF2AK4_uc010bbk.1_Non-coding_Transcript	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	1215	Histidyl-tRNA synthetase-like.				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)		ACTGTGGGATCCCAGAAGATA	0.313000														89			48		0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254511	30254511	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:30254511C>T	uc022bug.1	+	0	470	c.470C>T	c.(469-471)tCt>tTt	p.S157F	MAGEB3_uc004dca.2_Missense_Mutation_p.S157F	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	157	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AAAAAAGCTTCTTTCAACATG	0.373000														20			52		0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38110573	38110573	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:38110573C>T	uc003xlc.3	+	14	2019	c.1819C>T	c.(1819-1821)Cct>Tct	p.P607S	DDHD2_uc003xlb.3_Missense_Mutation_p.P607S|DDHD2_uc003xld.3_Missense_Mutation_p.P226S	NM_001164232	NP_056029	O94830	DDHD2_HUMAN	Homo sapiens DDHD domain containing 2 (DDHD2), transcript variant 2, mRNA.	607	DDHD.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AGCTCCATACCCTGCCTTACA	0.483000														65			7		0	0	1	0	0
RNF38	152006	broad.mit.edu	37	9	36352839	36352839	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:36352839G>A	uc003zzh.3	-	7	1269	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S	RNF38_uc003zzi.3_Missense_Mutation_p.P310S|RNF38_uc003zzj.3_Missense_Mutation_p.P277S|RNF38_uc003zzk.3_Missense_Mutation_p.P277S|RNF38_uc003zzl.3_Missense_Mutation_p.P284S|RNF38_uc003zzm.3_Missense_Mutation_p.P277S	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA.	360	Pro-rich.						zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			ATAAATGGAGGATAAGGCTGC	0.403000														31			5		0	0	1	0	0
TAS2R8	50836	broad.mit.edu	37	12	10958981	10958981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10958981G>A	uc010shh.2	-	0	599	c.599C>T	c.(598-600)tCa>tTa	p.S200L		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	Homo sapiens taste receptor, type 2, member 8 (TAS2R8), mRNA.	200					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAGGAAAAATGATATCAGTGA	0.378000														66			42		0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240016749	240016749	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:240016749G>A	uc002vyk.4	-	16	3014	c.2222C>T	c.(2221-2223)tCg>tTg	p.S741L	HDAC4_uc010fyz.1_Missense_Mutation_p.S736L|HDAC4_uc010zoa.1_Missense_Mutation_p.S741L|HDAC4_uc010fza.2_Missense_Mutation_p.S746L|HDAC4_uc010fyy.3_Missense_Mutation_p.S698L|HDAC4_uc010znz.1_Missense_Mutation_p.S624L	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	741	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.S741S(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGAGGCGAGCGAGCCTGTGGG	0.617000														111			42		0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16170511	16170511	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:16170511C>T	uc004cxj.3	+	2	1551	c.898C>T	c.(898-900)Cac>Tac	p.H300Y		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	300					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTCCATGCTCCACTTTGTCAC	0.562000														88			77		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166964517	166964517	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:166964517G>A	uc003irh.2	+	11	2117	c.1470G>A	c.(1468-1470)tgG>tgA	p.W490*	TLL1_uc011cjn.2_Nonsense_Mutation_p.W490*|TLL1_uc011cjo.2_Nonsense_Mutation_p.W314*	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	490	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)		AATGTGTGTGGAAAATAACAG	0.433000														152			61		0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197765482	197765482	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:197765482C>T	uc010iar.3	+	16	2045	c.2023C>T	c.(2023-2025)Ctg>Ttg	p.L675L	LMLN_uc003fyt.3_Silent_p.L623L|LMLN_uc011buo.2_Silent_p.L638L|LMLN_uc010ias.3_Silent_p.L586L|LMLN_uc003fyu.3_Silent_p.L435L	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.	638					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CCTCTGGCTTCTGCTAGGCAA	0.393000														91			25		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23410682	23410682	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:23410682C>T	uc004dal.4	+	2	1055	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	349	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AAATGTTATCCTCCTGGAGGA	0.418000														11			28		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23197734	23197734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23197734C>T	uc002dlm.1	+	1	281	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	48					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CGTGGTGTCCCGCGGCCGTCT	0.637000														46			10		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21991358	21991358	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21991358G>A	uc001wbe.3	-	1	2786	c.2504C>T	c.(2503-2505)tCt>tTt	p.S835F	SALL2_uc010tly.2_Missense_Mutation_p.S833F|SALL2_uc010tlz.1_Missense_Mutation_p.S698F|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.S700F|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	835							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGGCAAAGAAGACTGTTGAGT	0.567000														69			12		0	0	1	0	0
DKK4	27121	broad.mit.edu	37	8	42233236	42233236	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:42233236C>T	uc003xpb.3	-	1	335	c.224G>A	c.(223-225)cGa>cAa	p.R75Q		NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	Homo sapiens dickkopf homolog 4 (Xenopus laevis) (DKK4), mRNA.	75	DKK-type Cys-1.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of Wnt receptor signaling pathway	extracellular region		p.R75Q(2)		NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CATGGCATCTCGCTGGCACCT	0.552000														62			11		0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134256405	134256405	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:134256405G>A	uc011kpr.2	+	5	784	c.485G>A	c.(484-486)gGa>gAa	p.G162E		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	162							oxidoreductase activity	p.G134V(1)|p.G134E(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						ATGATCAGTGGAAAAGGAACG	0.418000														126			26		0	0	1	0	0
ARMCX5-GPRASP2	100528062	broad.mit.edu	37	X	101970347	101970347	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:101970347C>T	uc022cbh.1	+	0	550	c.550C>T	c.(550-552)Cct>Tct	p.P184S	ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.P184S|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.P184S|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.P184S|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.P184S|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.P184S|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.P184S|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.P184S	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	184						cytoplasm	protein binding										TGAAACCTTTCCTGGCACCCA	0.532000														43			78		0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94909498	94909498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94909498G>A	uc001ydd.1	-	3	1042	c.982C>T	c.(982-984)Ccc>Tcc	p.P328S		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	328					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CCAATTTGGGGAAGTATGTCT	0.438000														88			33		0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59610056	59610056	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59610056C>T	uc001noi.3	-	4	419	c.371_splice	c.e4-1	p.S124_splice	GIF_uc010rkz.1_3'UTR	NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	124					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						AGCGTTGGGGCCTCCGAAGGG	0.517000														46			22		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21255406	21255406	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21255406G>A	uc002red.3	-	9	1300	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	391	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATGTGAGTGGAGCACTGAGG	0.527000														48			18		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21265245	21265245	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21265245C>T	uc002red.3	-	2	353	c.225G>A	c.(223-225)agG>agA	p.R75R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	75	Heparin-binding.|Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCAGTTGATCCTGGTGGCAC	0.587000														89			34		0	0	1	0	0
B3GALTL	145173	broad.mit.edu	37	13	31835147	31835147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:31835147C>T	uc010aaz.3	+	6	634	c.524C>T	c.(523-525)tCc>tTc	p.S175F	B3GALTL_uc001utn.4_Non-coding_Transcript	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA.	175					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.S175S(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TATGCCTTTTCCGAGAATCCT	0.343000														58			14		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16877459	16877460	+	Splice_Site	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:16877459_16877460GG>AA	uc010rcu.1	-	5	321	c.306_splice	c.e5-1	p.E102_splice	PLEKHA7_uc001mmo.3_Splice_Site_p.E102_splice	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	102					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						ATGTGGATTCGGCCTGTGAGGA	0.535000														160			55		0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27516538	27516538	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:27516538G>A	uc003xga.1	+	4	992	c.851G>A	c.(850-852)gGg>gAg	p.G284E	SCARA3_uc003xgb.1_Missense_Mutation_p.G284E	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	284					UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GCCACCCTGGGGGCCTCCTCA	0.597000														32			14		0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61877952	61877952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61877952C>T	uc002jbu.3	+	6	853	c.596C>T	c.(595-597)cCt>cTt	p.P199L	DDX42_uc002jbv.3_Missense_Mutation_p.P199L|DDX42_uc002jbw.1_5'UTR	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	199					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						ATCATTGATCCTCTTCCCCCC	0.388000														119			58		0	0	1	0	0
CST4	1472	broad.mit.edu	37	20	23667824	23667824	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:23667824C>T	uc002wto.1	-	1	299	c.243G>A	c.(241-243)gtG>gtA	p.V81V		NM_001899	NP_001890	P01036	CYTS_HUMAN	Homo sapiens cystatin S (CST4), mRNA.	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					AGAAGTAATTCACCCCCCCAA	0.557000														184			49		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51287566	51287566	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:51287566G>A	uc003tps.3	-	1	302	c.117C>T	c.(115-117)ccC>ccT	p.P39P	COBL_uc003tpr.4_Silent_p.P39P|COBL_uc011kcl.2_Silent_p.P39P|COBL_uc010kzc.3_Silent_p.P39P|COBL_uc003tpt.3_Silent_p.P39P	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	39										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CATCGTGGGGGGGCTTCTGGT	0.607000														58			25		0	0	1	0	0
RAB2B	84932	broad.mit.edu	37	14	21930572	21930572	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21930572G>A	uc010tlt.2	-	6	581	c.480C>T	c.(478-480)ttC>ttT	p.F160F	RAB2B_uc010tls.2_Silent_p.F114F|RAB2B_uc010ain.3_Silent_p.F51F|RAB2B_uc001wax.3_Silent_p.F95F	NM_032846	NP_001156852	Q8WUD1	RAB2B_HUMAN	Homo sapiens RAB2B, member RAS oncogene family (RAB2B), transcript variant 1, mRNA.	160					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|plasma membrane	GTP binding			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		CTGTGTTAATGAAGGCCTGAA	0.358000														107			42		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43945658	43945658	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:43945658C>T	uc010skx.2	-	0	67	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	23						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)		AAGTCAACTTCCCAAGACCTG	0.652000														83			22		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48652918	48652918	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48652918C>T	uc002irk.1	+	7	1527	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	CACNA1G_uc002iri.1_Silent_p.F385F|CACNA1G_uc002irj.1_Silent_p.F385F|CACNA1G_uc002irl.1_Silent_p.F385F|CACNA1G_uc002irm.1_Silent_p.F385F|CACNA1G_uc002irn.1_Silent_p.F385F|CACNA1G_uc002iro.1_Silent_p.F385F|CACNA1G_uc002irp.1_Silent_p.F385F|CACNA1G_uc002irq.1_Silent_p.F385F|CACNA1G_uc002irr.1_Silent_p.F385F|CACNA1G_uc002irs.1_Silent_p.F385F|CACNA1G_uc002irt.1_Silent_p.F385F|CACNA1G_uc002iru.1_Silent_p.F385F|CACNA1G_uc002irv.1_Silent_p.F385F|CACNA1G_uc002irw.1_Silent_p.F385F|CACNA1G_uc002irx.1_Silent_p.F298F|CACNA1G_uc002iry.1_Silent_p.F298F|CACNA1G_uc002isg.1_Silent_p.F298F|CACNA1G_uc002ish.1_Silent_p.F298F|CACNA1G_uc002isi.1_Silent_p.F298F|CACNA1G_uc002irz.1_Silent_p.F298F|CACNA1G_uc002isa.1_Silent_p.F298F|CACNA1G_uc002isd.1_Silent_p.F298F|CACNA1G_uc002isb.1_Silent_p.F298F|CACNA1G_uc002isc.1_Silent_p.F298F|CACNA1G_uc002ise.1_Silent_p.F298F|CACNA1G_uc002isf.1_Silent_p.F298F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	385					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTCCTTCTTCATGATCAACC	0.552000														26			13		0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127958729	127958729	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:127958729G>A	uc002tod.2	-	2	488	c.357C>T	c.(355-357)ttC>ttT	p.F119F	CYP27C1_uc021vnn.1_Silent_p.F119F	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	119						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		AGGACCTGCAGAATTCCCGCC	0.522000														187			12		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57757027	57757027	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:57757027C>T	uc002emi.3	+	10	1611	c.1522C>T	c.(1522-1524)Ccc>Tcc	p.P508S	CCDC135_uc002emj.3_Missense_Mutation_p.P508S|CCDC135_uc002emk.3_Missense_Mutation_p.P443S	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	508						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GCCTGGCCACCCCCAGGCTCT	0.597000														111			24		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43918846	43918846	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:43918846G>A	uc001uza.4	-	8	1164	c.864C>T	c.(862-864)tcC>tcT	p.S288S	ENOX1_uc001uzc.4_Silent_p.S288S|ENOX1_uc001uzb.4_Silent_p.S288S|ENOX1_uc010tfm.1_Silent_p.S101S	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	288					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GTTCAATCCAGGAAAGCAGCA	0.458000														104			18		0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18643341	18643341	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:18643341G>A	uc004cym.3	+	16	2723	c.2470G>A	c.(2470-2472)Gag>Aag	p.E824K	CDKL5_uc004cyn.3_Missense_Mutation_p.E824K|CDKL5_uc022btn.1_Missense_Mutation_p.E815K	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	824					neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GTGGCGCCCCGAGAAGATCTC	0.547000														42			66		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105261008	105261008	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:105261008G>A	uc003yls.3	+	24	3851	c.3610G>A	c.(3610-3612)Gtg>Atg	p.V1204M	RIMS2_uc003ylp.3_Missense_Mutation_p.V1186M|RIMS2_uc003ylw.2_Missense_Mutation_p.V1193M|RIMS2_uc003ylq.3_Missense_Mutation_p.V1000M|RIMS2_uc003ylr.3_Missense_Mutation_p.V1025M	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1248					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)			TGCTCAGCTAGTGGGACGCCA	0.428000										HNSCC(12;0.0054)				52			21		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50265441	50265441	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50265441G>A	uc002ppm.3	-	1	230	c.219C>T	c.(217-219)ctC>ctT	p.L73L		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	73							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGGACCGTTTGAGGTTCAGGC	0.612000														33			9		0	0	1	0	0
MIXL1	83881	broad.mit.edu	37	1	226413318	226413318	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:226413318G>A	uc010pvm.2	+	1	504	c.504G>A	c.(502-504)acG>acA	p.T168T		NM_031944	NP_114150	Q9H2W2	MIXL1_HUMAN	Homo sapiens Mix paired-like homeobox (MIXL1), mRNA.	168					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		GAACTGAAACGAAATGTCTGA	0.557000														70			37		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184295503	184295503	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:184295503C>T	uc003foz.3	+	6	1974	c.1537C>T	c.(1537-1539)Ctt>Ttt	p.L513F		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	513	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G512A(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCTGGACGGGCTTCGGCCTGA	0.642000														93			34		0	0	1	0	0
VSTM1	284415	broad.mit.edu	37	19	54554694	54554694	+	Missense_Mutation	SNP	C	T	T	rs147285202	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54554694C>T	uc002qcw.4	-	3	540	c.364G>A	c.(364-366)Gat>Aat	p.D122N	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Missense_Mutation_p.D34N|VSTM1_uc002qcx.4_Missense_Mutation_p.D122N|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Intron	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	122						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCAAGTTCATCGTGTTTATCT	0.393000														27			14		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43773519	43773519	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:43773519G>A	uc001ciu.3	+	6	1143	c.966G>A	c.(964-966)caG>caA	p.Q322Q	TIE1_uc010okd.2_Silent_p.Q322Q|TIE1_uc010oke.2_Silent_p.Q277Q|TIE1_uc009vwq.3_Silent_p.Q278Q|TIE1_uc010okf.1_Intron|TIE1_uc010okg.2_Intron|TIE1_uc010okc.2_Intron	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	322	EGF-like 3.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCAGTGTCAGAATGGTGGCA	0.547000														57			21		0	0	1	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46101961	46101961	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46101961G>A	uc002zfv.3	-	0	118	c.78C>T	c.(76-78)atC>atT	p.I26I	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181686	NP_859014	P59990	KR121_HUMAN	Homo sapiens keratin associated protein 12-1 (KRTAP12-1), mRNA.	26	14 X 5 AA approximate repeats.					keratin filament				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						AGCCCACGGGGATGTAACAGG	0.667000														95			8		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100141898	100141898	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:100141898C>T	uc001pga.3	+	17	2743	c.2239C>T	c.(2239-2241)Cga>Tga	p.R747*	CNTN5_uc001pfz.3_Nonsense_Mutation_p.R747*|CNTN5_uc021qpb.1_Nonsense_Mutation_p.R747*|CNTN5_uc021qpc.1_Nonsense_Mutation_p.R673*|CNTN5_uc010ruk.2_Nonsense_Mutation_p.R18*	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	747	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.F746F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATATGAATTTCGAGTGGTAGC	0.458000														53			20		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033732	82033732	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:82033732C>T	uc002fgu.3	-	2	294	c.166G>A	c.(166-168)Gga>Aga	p.G56R		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	56					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CGGATGTCTCCTTGTATAAAC	0.502000														149			16		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102476636	102476636	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:102476636C>T	uc001yks.2	+	30	6409	c.6245C>T	c.(6244-6246)tCc>tTc	p.S2082F		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2082	AAA 1 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.S2082S(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGCTCTCTTCCCAAAGCCAT	0.408000														89			18		0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113935433	113935433	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:113935433A>T	uc009xxy.2	-	5	548	c.338T>A	c.(337-339)cTt>cAt	p.L113H	GPAM_uc001kzp.3_Missense_Mutation_p.L113H|GPAM_uc001kzq.1_Missense_Mutation_p.L113H	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	113					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TTGAATAAAAAGAACGTAAGA	0.443000														89			40		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117810748	117810748	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117810748G>A	uc004bjj.4	-	15	5055	c.4643C>T	c.(4642-4644)tCc>tTc	p.S1548F	TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1548	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGCCATCCAGGAAACTGTGAA	0.502000														40			9		0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5540286	5540286	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:5540286G>A	uc003soo.2	-	2	1708	c.1614C>T	c.(1612-1614)ctC>ctT	p.L538L	FBXL18_uc003son.4_Silent_p.L538L	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	538								p.L538F(1)	FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCAGCTGTGCGAGCGTCAGGT	0.687000														19			11		0	0	1	0	0
HERC2P2	400322	broad.mit.edu	37	15	23285498	23285498	+	RNA	SNP	T	A	A	rs116993237	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:23285498T>A	uc001yvq.2	-	10		c.2417A>T			HERC2P2_uc001yvo.4_Intron|HERC2P2_uc001yvp.4_Intron					Homo sapiens hect domain and RLD 2 pseudogene 2 (HERC2P2), non-coding RNA.																		CGTCACAGTGTGCGTGCTTGT	0.572000														42			4		0	0	1	0	0
FAM26D	221301	broad.mit.edu	37	6	116879329	116879329	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:116879329G>A	uc003pxa.3	+	3	770	c.471G>A	c.(469-471)gaG>gaA	p.E157E	FAM26D_uc003pwz.3_Silent_p.E114E|FAM26D_uc010ked.3_Silent_p.E156E|FAM26D_uc021zed.1_Silent_p.E114E	NM_153036	NP_694581	Q5JW98	FA26D_HUMAN	Homo sapiens family with sequence similarity 26, member D (FAM26D), mRNA.	300						integral to membrane				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		GGGTGGATGAGGATAATGAGG	0.408000														62			16		0	0	1	0	0
CALU	813	broad.mit.edu	37	7	128399014	128399014	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128399014C>T	uc022ald.1	+	4	1472	c.529C>T	c.(529-531)Ctc>Ttc	p.L177F	CALU_uc022alg.1_Missense_Mutation_p.L95F|CALU_uc022alh.1_Missense_Mutation_p.L95F|CALU_uc022ali.1_Missense_Mutation_p.L17F|CALU_uc003vns.3_Missense_Mutation_p.L169F|CALU_uc003vnr.3_Missense_Mutation_p.L177F|CALU_uc003vnq.3_Missense_Mutation_p.L169F|CALU_uc022ale.1_Missense_Mutation_p.L169F|CALU_uc022alf.1_Missense_Mutation_p.L18F	NM_001199672	NP_001186601	O43852	CALU_HUMAN	Homo sapiens calumenin (CALU), transcript variant 4, mRNA.	169	EF-hand 3.				platelet activation|platelet degranulation	Golgi apparatus|extracellular region|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						GGATGGAGACCTCATTGCCAC	0.428000														215			84		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177063141	177063141	+	Nonsense_Mutation	SNP	C	T	T	rs142589281		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:177063141C>T	uc003iuj.3	+	11	1825	c.1522C>T	c.(1522-1524)Cga>Tga	p.R508*	WDR17_uc003ium.4_Nonsense_Mutation_p.R484*|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	508										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TAGTATTATTCGAACAATTGA	0.274000														89			44		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82837712	82837712	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:82837712G>A	uc003kii.3	+	7	9246	c.8890G>A	c.(8890-8892)Gat>Aat	p.D2964N	VCAN_uc003kij.3_Missense_Mutation_p.D1977N|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.D1628N	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2964	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TACAACTGCCGATGAAATTGA	0.463000														147			61		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18725439	18725439	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:18725439G>A	uc003wza.3	-	3	1482	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	460					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TGTCTCCAGGGACTCTGCACT	0.458000														91			42		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411529	126411529	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126411529C>T	uc003ifj.4	+	16	13552	c.13552C>T	c.(13552-13554)Ctc>Ttc	p.L4518F	FAT4_uc011cgp.2_Missense_Mutation_p.L2759F|FAT4_uc003ifi.1_Missense_Mutation_p.L1995F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4518					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CGTCTTGGCCCTCCTGGTCCT	0.557000														45			21		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722323	58722323	+	Silent	SNP	G	A	A	rs7478799		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58722323G>A	uc001nnh.2	+	4	410	c.360G>A	c.(358-360)ttG>ttA	p.L120L	GLYATL1_uc001nnf.3_Silent_p.L89L|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Silent_p.L89L|GLYATL1_uc001nnj.2_Silent_p.L89L	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	89						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AAGAAGTTTTGAAAAATTGTG	0.383000														50			25		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906248	164906248	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:164906248G>A	uc003fej.4	-	1	2815	c.2371C>T	c.(2371-2373)Ctc>Ttc	p.L791F	SLITRK3_uc003fek.3_Missense_Mutation_p.L791F|SLITRK3_uc021xgy.1_Missense_Mutation_p.L791F	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	791						integral to membrane		p.L791I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTTCCTAGGAGAGCCTCACCC	0.572000										HNSCC(40;0.11)				78			39		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178418886	178418886	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178418886G>A	uc003mjr.3	-	1	882	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	235					detection of visible light|visual perception	integral to plasma membrane		p.V234I(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGGGAGATCTGAACGAAGGCC	0.617000														26			11		0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31606074	31606075	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31606074_31606075CC>TT	uc002wyj.3	+	7	781_782	c.587_588CC>TT	c.(586-588)ccc>cTT	p.P196L		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	196						extracellular region	lipid binding										GGCCTCAACCCCGTGGGTCCTG	0.480000														73			18		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55973911	55973911	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:55973911C>T	uc003has.3	-	9	1707	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	KDR_uc003hat.1_Missense_Mutation_p.E469K|KDR_uc011bzx.2_Missense_Mutation_p.E469K	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	469	Ig-like C2-type 5.				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			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)	CACCTGGGCTCGTTGGCGCAC	0.512000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				66			27		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221131	161221131	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:161221131C>T	uc011bpb.2	+	3	835	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	279	Collagen-like 3.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CAAAAGCGGCCGTAATGGTCT	0.537000														8			6		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886058	88886058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:88886058C>T	uc003ydz.3	-	0	239	c.142G>A	c.(142-144)Gag>Aag	p.E48K		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	48										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACACGCAGCTCGCGAGCTATA	0.502000														78			28		0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18707512	18707512	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18707512G>A	uc010ebt.2	-	5	1138	c.944C>T	c.(943-945)cCc>cTc	p.P315L		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	315	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GATGCCAAAGGGGTTGCAGCG	0.637000														34			7		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119540121	119540121	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:119540121C>T	uc001txa.2	+	1	600	c.212C>T	c.(211-213)cCc>cTc	p.P71L		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	71					RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GCCACCGAGCCCTTGGGCACC	0.542000														32			9		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814304	106814304	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:106814304G>A	uc003ymd.3	+	7	2017	c.1994G>A	c.(1993-1995)gGa>gAa	p.G665E	ZFPM2_uc011lhs.2_Missense_Mutation_p.G396E	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	665					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAAATTAATGGAAAACCTGTT	0.433000														30			8		0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202861773	202861773	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:202861773G>A	uc001gyo.1	-	11	1795	c.1595C>T	c.(1594-1596)tCc>tTc	p.S532F	KLHL12_uc001gym.1_Missense_Mutation_p.P203S|KLHL12_uc001gyn.1_Missense_Mutation_p.P320S|KLHL12_uc010pqc.1_Missense_Mutation_p.S570F	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.	532	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			ACTTAGCAGGGAATTACCATC	0.488000														58			14		0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	192078283	192078283	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:192078283C>T	uc003fsx.3	-	1	1070	c.244G>A	c.(244-246)Gga>Aga	p.G82R	FGF12_uc003fsy.3_Missense_Mutation_p.G20R	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	82					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AGGAAGTATCCCTGCTGGCTG	0.398000														61			28		0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231077635	231077635	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:231077635G>A	uc002vqg.3	-	3	664	c.424C>T	c.(424-426)Cca>Tca	p.P142S	SP110_uc002vqh.3_Missense_Mutation_p.P142S|SP110_uc002vqi.4_Missense_Mutation_p.P142S|SP110_uc010fxk.3_Missense_Mutation_p.P142S|SP110_uc021vxx.1_Missense_Mutation_p.P148S	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	142					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		GGGGGTTGTGGTGGGGGCAGC	0.577000														120			35		0	0	1	0	0
GRB2	2885	broad.mit.edu	37	17	73322082	73322082	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73322082G>A	uc002jnx.4	-	3	554	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S	GRB2_uc002jny.4_Intron	NM_002086	NP_002077	P62993	GRB2_HUMAN	Homo sapiens growth factor receptor-bound protein 2 (GRB2), transcript variant 1, mRNA.	66	SH2.				Ras protein signal transduction|T cell costimulation|axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|receptor internalization|signal transduction in response to DNA damage	Golgi apparatus|cytosol	SH3/SH2 adaptor activity|epidermal growth factor receptor binding|insulin receptor substrate binding			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TTGGCTCTGGGGATTTTGCCA	0.507000														77			34		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113085149	113085149	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113085149C>T	uc021qqp.1	+	7	1341	c.969C>T	c.(967-969)gtC>gtT	p.V323V	NCAM1_uc001pno.3_Silent_p.V207V|NCAM1_uc001pnp.3_Silent_p.V323V|NCAM1_uc021qqo.1_Silent_p.V323V|NCAM1_uc001pnq.3_Silent_p.V323V|NCAM1_uc001pnr.3_Silent_p.V323V	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	325	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGAGCAGGTCACTCTTACCT	0.458000														21			8		0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65325929	65325929	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:65325929G>A	uc001dbu.1	-	8	1442	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	JAK1_uc009wam.1_Missense_Mutation_p.S398F	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	398	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CTCCTCGTGGGAAGAGAGCTT	0.542000			Mis		ALL									52			18		0	0	1	0	0
ABCD3	5825	broad.mit.edu	37	1	94964161	94964161	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94964161C>T	uc010oto.2	+	17	1564	c.1462C>T	c.(1462-1464)Cga>Tga	p.R488*	ABCD3_uc001dqn.4_Nonsense_Mutation_p.R464*|ABCD3_uc010otp.2_Nonsense_Mutation_p.R391*|ABCD3_uc009wdr.3_Nonsense_Mutation_p.R354*|ABCD3_uc001dqo.4_Nonsense_Mutation_p.R152*	NM_002858	NP_002849	P28288	ABCD3_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.	464	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTTTCAGGTTCGATCTGGGGC	0.338000														59			12		0	0	1	0	0
CHRNA7	1139	broad.mit.edu	37	15	32404046	32404046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:32404046C>T	uc021sic.1	+	3	490	c.383C>T	c.(382-384)aCt>aTt	p.T128I	CHRNA7_uc010bad.2_Non-coding_Transcript|CHRNA7_uc010bab.2_Missense_Mutation_p.T99I|CHRNA7_uc010bac.2_Missense_Mutation_p.T99I|CHRNA7_uc010bae.2_Intron|CHRNA7_uc001zft.3_Missense_Mutation_p.T99I|CHRNA7_uc010baf.3_Intron|CHRNA7_uc010bag.1_Non-coding_Transcript|CHRNA7_uc010bah.1_Non-coding_Transcript|CHRNA7_uc010bai.1_Non-coding_Transcript|CHRNA7_uc010baj.1_5'Flank|CHRNA7_uc010bak.3_5'Flank	NM_001190455	NP_683709	P36544	ACHA7_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 7 (CHRNA7), transcript variant 2, mRNA.	99					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	GGGGTGAAGACTGTTCGTTTC	0.403000														127			49		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130293171	130293171	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130293171G>A	uc010htl.3	+	6	3380	c.3349G>A	c.(3349-3351)Gag>Aag	p.E1117K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1117	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTCCCAAGACGAGGTGGCCCA	0.577000														59			18		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41497234	41497234	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41497234C>T	uc002opr.1	+	0	31	c.24C>T	c.(22-24)ttC>ttT	p.F8F	CYP2A7_uc002opo.3_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	8					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TCCTCCTCTTCCTTGCACTCC	0.622000														184			71		0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165749672	165749672	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:165749672G>A	uc003qun.3	-	21	2422	c.2177C>T	c.(2176-2178)cCc>cTc	p.P726L	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.P656L|PDE10A_uc003quo.3_Missense_Mutation_p.P736L	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	726					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TGTATAGCAGGGAATGGCCAC	0.443000														17			9		0	0	1	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767608	143767608	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:143767608C>A	uc001ejt.3	-	0	274	c.241G>T	c.(241-243)Gag>Tag	p.E81*		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	81	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						TCAAATTTCTCCCCATAGATG	0.453000														245			63		3.58576e-35	3.60891e-35	1	1	0
HTR3E	285242	broad.mit.edu	37	3	183823084	183823084	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183823084G>A	uc010hxr.3	+	3	861	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	HTR3E_uc010hxq.3_Missense_Mutation_p.E197K|HTR3E_uc003fml.4_Missense_Mutation_p.E182K|HTR3E_uc003fmm.3_Missense_Mutation_p.E212K|HTR3E_uc003fmn.3_Missense_Mutation_p.E197K	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	197						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CATGGAGAAAGAAGTGTGGGA	0.498000														46			16		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	981129	981129	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:981129C>T	uc001ack.2	+	14	2603	c.2553C>T	c.(2551-2553)ccC>ccT	p.P851P		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	851	Laminin EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCTGTGATCCCCAAGGCGCCG	0.657000														81			27		0	0	1	0	0
SLC22A13	9390	broad.mit.edu	37	3	38317409	38317410	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38317409_38317410CC>TT	uc003chz.3	+	6	1113_1114	c.1059_1060CC>TT	c.(1057-1062)ctccaa>ctTTaa	p.Q354*	SLC22A13_uc011aym.1_Non-coding_Transcript|SLC22A13_uc011ayn.1_Nonsense_Mutation_p.Q354*	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 13 (SLC22A13), mRNA.	354						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GCCTGAGCCTCCAAGTGGGGGA	0.569000														49			19		0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281633	71281633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:71281633G>A	uc002jjn.3	-	1	1154	c.1007C>T	c.(1006-1008)tCa>tTa	p.S336L	CDC42EP4_uc002jjo.3_Missense_Mutation_p.S336L|CDC42EP4_uc002jjp.1_Missense_Mutation_p.S266L|CDC42EP4_uc021ucn.1_Missense_Mutation_p.S336L	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	336					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			TGGCTGTCTTGAGACAGCAGC	0.647000														63			33		0	0	1	0	0
NELF	26012	broad.mit.edu	37	9	140347008	140347008	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140347008G>A	uc004cna.3	-	10	1394	c.1162C>T	c.(1162-1164)Ctt>Ttt	p.L388F	NELF_uc011mex.2_Missense_Mutation_p.L185F|NELF_uc010nci.3_Missense_Mutation_p.L132F|NELF_uc011mey.2_Non-coding_Transcript|NELF_uc004cnb.3_Missense_Mutation_p.L358F|NELF_uc004cmz.3_Missense_Mutation_p.L386F|NELF_uc011mez.2_Missense_Mutation_p.L365F|NELF_uc004cnc.3_Missense_Mutation_p.L363F|NELF_uc022bqi.1_Missense_Mutation_p.L365F	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	Homo sapiens nasal embryonic LHRH factor (NELF), transcript variant 1, mRNA.	388						nucleus|plasma membrane				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	10	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		CACATACCAAGGATGTCCTCG	0.657000														40			8		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367630	107367630	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107367630G>A	uc011lvq.2	-	0	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGCCAGAAAGGGAAATGGTCT	0.517000														99			26		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94927321	94927321	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:94927321C>T	uc002btj.3	+	11	1718	c.1653C>T	c.(1651-1653)aaC>aaT	p.N551N	MCTP2_uc002bti.2_Silent_p.N551N|MCTP2_uc010boj.3_Silent_p.N280N|MCTP2_uc010bok.3_Silent_p.N551N|MCTP2_uc002btk.4_Silent_p.N139N|MCTP2_uc002btl.3_Silent_p.N139N	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	551	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCTACAAAAACCTCAACCCTG	0.438000														27			21		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429948	135429948	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:135429948G>A	uc004ezu.1	+	5	4374	c.4083G>A	c.(4081-4083)ggG>ggA	p.G1361G	GPR112_uc010nsb.1_Silent_p.G1156G|GPR112_uc010nsc.1_Silent_p.G1128G	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1361					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCAGTCTTGGGAAAACAGCTC	0.478000														110			22		0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94975597	94975597	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:94975597C>T	uc001tdj.2	-	1	914	c.796G>A	c.(796-798)Gac>Aac	p.D266N	TMCC3_uc001tdi.2_Missense_Mutation_p.D235N	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	266						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CCGTTACTGTCGGCCGAGCCT	0.597000														98			32		0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118203949	118203949	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:118203949C>T	uc001lcl.4	+	3	481	c.380C>T	c.(379-381)tCa>tTa	p.S127L		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	127					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		ATCAACGGTTCACGGGAATAC	0.333000														69			43		0	0	1	0	0
C4orf26	152816	broad.mit.edu	37	4	76489530	76489530	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:76489530C>T	uc011cbo.2	+	2	353	c.318C>T	c.(316-318)tcC>tcT	p.S106S	C4orf26_uc011cbn.2_Intron|C4orf26_uc003hip.2_Missense_Mutation_p.P92S	NM_001206981	NP_001193910	Q17RF5	CD026_HUMAN	Homo sapiens chromosome 4 open reading frame 26 (C4orf26), transcript variant 1, mRNA.	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACCTTTCGTCCCTTCAAGGTG	0.478000														178			66		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73063793	73063793	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73063793G>A	uc004ebm.1	-	0		c.8796C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CACCAGAAGGGGCCTTGGAGG	0.398000														8			8		0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165559709	165559709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:165559709G>A	uc002ucp.3	-	8	1469	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	COBLL1_uc002ucq.3_Intron|COBLL1_uc010zcw.2_Missense_Mutation_p.S482F|COBLL1_uc010zcx.2_Intron|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Intron	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	454										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTCCTGACTGGAAAGCCCAGG	0.488000														121			13		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26747146	26747146	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26747146C>T	uc003acb.3	+	11	2732	c.2536C>T	c.(2536-2538)Ctg>Ttg	p.L846L	SEZ6L_uc003acd.3_Intron|SEZ6L_uc011akd.2_Silent_p.L846L|SEZ6L_uc003ace.3_Silent_p.L846L|SEZ6L_uc011akc.2_Silent_p.L846L|SEZ6L_uc003acc.3_Silent_p.L846L|SEZ6L_uc003acf.1_Silent_p.L619L|SEZ6L_uc010gvc.1_Silent_p.L619L|SEZ6L_uc011ake.2_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	846	Sushi 4.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GAGTTCTCTTCTGACCTGCTA	0.552000														77			39		0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113857486	113857486	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113857486G>A	uc010rxb.2	+	6	1203	c.970G>A	c.(970-972)Gag>Aag	p.E324K	HTR3A_uc010rxa.2_Intron|HTR3A_uc009yyx.3_Intron|HTR3A_uc010rxc.2_Intron	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	305					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCAGTCTGGTGAGAAACCCGC	0.597000														137			26		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57863320	57863320	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57863320G>A	uc001snx.3	+	10	1509	c.1415G>A	c.(1414-1416)gGg>gAg	p.G472E	GLI1_uc021qzi.1_Missense_Mutation_p.G431E|GLI1_uc009zpq.3_Missense_Mutation_p.G344E	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	472					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGCAATGCAGGGGGCAGCACT	0.612000														87			23		0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33107014	33107014	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:33107014G>A	uc011axk.1	-	5	754	c.637C>T	c.(637-639)Ctt>Ttt	p.L213F	GLB1_uc003cfh.1_Missense_Mutation_p.L135F|GLB1_uc003cfi.1_Missense_Mutation_p.L165F|GLB1_uc003cfj.1_Missense_Mutation_p.P94L	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	165					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TTGGGCAGAAGGACTCCCAAC	0.512000														8			5		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19760619	19760619	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19760619G>A	uc002nnh.4	-	17	2494	c.2466C>T	c.(2464-2466)acC>acT	p.T822T	ATP13A1_uc002nne.3_5'UTR|ATP13A1_uc002nnf.4_Silent_p.T190T|ATP13A1_uc002nng.3_Silent_p.T704T	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	822					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCTGGGGGTCGGTGGCCTGCA	0.687000														36			7		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111789272	111789272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:111789272C>T	uc010yxk.1	+	14	1574	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S	ACOXL_uc021vmm.1_Silent_p.S303S|ACOXL_uc021vmn.1_Silent_p.S273S	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	480					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CTTCTCTGTCCCTGGCACACA	0.502000														65			19		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31997551	31997551	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31997551C>T	uc011dpd.2	+	28	3936	c.3885C>T	c.(3883-3885)ttC>ttT	p.F1295F	C4B_uc011dpe.2_Silent_p.F1295F	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1295					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										AGGGCAGCTTCCAAGGGGGAT	0.642000														66			14		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15967631	15967631	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:15967631G>A	uc010lsu.3	-	9	1437	c.1373C>T	c.(1372-1374)tCa>tTa	p.S458L	MSR1_uc003wwz.3_Missense_Mutation_p.S440L|MSR1_uc003wxa.3_Missense_Mutation_p.S377L	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	440					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTCAGAATGTGAACAGGCTCT	0.378000														87			42		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142186765	142186765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:142186765G>A	uc003yvy.3	+	14	2649	c.2371G>A	c.(2371-2373)Gaa>Aaa	p.E791K	DENND3_uc010mep.3_Missense_Mutation_p.E752K	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	791										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCCAAGAAAGAAGTCTTCGA	0.488000														89			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061525	9061525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9061525G>A	uc002mkp.3	-	2	26125	c.25921C>T	c.(25921-25923)Ccc>Tcc	p.P8641S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8643	Ser-rich.|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						TTTGAGGAGGGATGAATTTTC	0.428000														62			24		0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713428	138713428	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:138713428G>A	uc004cgr.4	-	10	3079	c.3079C>T	c.(3079-3081)Ctt>Ttt	p.L1027F	CAMSAP1_uc004cgq.4_Missense_Mutation_p.L917F|CAMSAP1_uc010nbg.3_Missense_Mutation_p.L749F	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1027						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GTTTCGTTAAGCTTCTCGATG	0.542000														34			18		0	0	1	0	0
GSR	2936	broad.mit.edu	37	8	30538495	30538495	+	Missense_Mutation	SNP	G	A	A	rs3180947		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:30538495G>A	uc003xih.2	-	11	1479	c.1345C>T	c.(1345-1347)Ccg>Tcg	p.P449S	GSR_uc022ato.1_Missense_Mutation_p.P396S|GSR_uc022atp.1_Missense_Mutation_p.P420S|GSR_uc022atq.1_Missense_Mutation_p.P367S	NM_000637	NP_000628	P00390	GSHR_HUMAN	Homo sapiens glutathione reductase (GSR), transcript variant 1, mRNA.	449					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	p.P449Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TGATACATCGGGGTAAAGCTC	0.338000														180			14		0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089137	113089137	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113089137C>T	uc002thq.1	+	11	3036	c.2642C>T	c.(2641-2643)cCc>cTc	p.P881L		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	881							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GTGTGGGCTCCCGAAGACTTA	0.428000														33			12		0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723973	142723973	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142723973C>T	uc003wcc.1	-	0	247	c.247G>A	c.(247-249)Gga>Aga	p.G83R		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AAGAGCAATCCCCAAAGCATC	0.483000														55			25		0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81239586	81239586	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81239586G>A	uc001szj.1	-	3	599	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	136	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GGAATTATGCGAGAGATATAA	0.473000														71			20		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68950480	68950480	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:68950480G>T	uc003xxv.1	+	6	819	c.792G>T	c.(790-792)gtG>gtT	p.V264V	PREX2_uc003xxu.1_Silent_p.V264V|PREX2_uc011lez.1_Silent_p.V199V	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	264	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAGAACGGGTGTTTTTTCTTT	0.403000														54			26		2.41591e-17	2.42841e-17	1	1	0
GPR6	2830	broad.mit.edu	37	6	110301203	110301203	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:110301203C>T	uc011eav.2	+	2	1177	c.933C>T	c.(931-933)gcC>gcT	p.A311A	GPR6_uc011eaw.2_Silent_p.A296A|GPR6_uc003ptu.3_Silent_p.A296A|GPR6_uc021zds.1_Silent_p.A296A	NM_005284	NP_005275	P46095	GPR6_HUMAN	Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.	296						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		TGCCCTTCGCCATCTATTGCG	0.622000														46			5		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210086	100210086	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:100210086G>A	uc002taf.3	-	13	2256	c.2112C>T	c.(2110-2112)tcC>tcT	p.S704S	AFF3_uc002tag.3_Silent_p.S679S|AFF3_uc010fiq.1_Silent_p.S679S|AFF3_uc010yvr.1_Silent_p.S832S|AFF3_uc002tah.1_Silent_p.S704S	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	679					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S704>?(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACTCCAGGTCGGAGTCCGAGG	0.612000														109			32		0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89251666	89251666	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89251666G>A	uc002fmt.3	+	4	665	c.588G>A	c.(586-588)caG>caA	p.Q196Q	CDH15_uc010cij.1_Silent_p.Q196Q	NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	196	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	p.Q195*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TCCTGCAGCAGGGCAGCCCCG	0.667000														7			3		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40392512	40392512	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40392512G>A	uc002omp.4	-	15	8000	c.7992C>T	c.(7990-7992)ctC>ctT	p.L2664L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2664	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCTGGAGAGGAGCCCACAGA	0.627000														89			10		0	0	1	0	0
CRYGD	1421	broad.mit.edu	37	2	209025752	209025752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:209025752G>A	uc002vcq.4	-	2	318	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	101	Beta/gamma crystallin 'Greek key' 3.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TCAGACATAAGGCCTCGGTAG	0.498000														55			30		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48385910	48385910	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48385910C>T	uc001jez.3	-	1	3296	c.3182G>A	c.(3181-3183)aGg>aAg	p.R1061K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	1061	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CACCAGCAGCCTGGAGACCTG	0.537000														114			38		0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39974767	39974767	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39974767G>A	uc002hxv.2	+	3	1040	c.715G>A	c.(715-717)Gag>Aag	p.E239K	FKBP10_uc002hxw.1_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	239	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGCCTATGGCGAGAAAGGCTA	0.547000														14			4		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577519	9577519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9577519G>A	uc002mlp.1	-	9	2314	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C	ZNF560_uc010dwr.1_Missense_Mutation_p.R596C	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTTTTTAAGCGATCATGAAAG	0.378000														195			60		0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8987935	8987935	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:8987935G>A	uc002czl.2	-	30	3428	c.3229C>T	c.(3229-3231)Cta>Tta	p.L1077L	USP7_uc010uyj.1_Silent_p.L978L|USP7_uc002czk.2_Silent_p.L1061L	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	1077					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCGAGCCCTAGCCAAGGCCGA	0.522000														117			35		0	0	1	0	0
GFI1B	8328	broad.mit.edu	37	9	135862086	135862086	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135862086G>A	uc004ccg.3	+	1	376	c.21G>A	c.(19-21)gtG>gtA	p.V7V	GFI1B_uc010mzy.3_Silent_p.V7V	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	7	Mediates repression of transcription.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCTTCCTGGTGAAGAGCAAGA	0.602000														20			7		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98408551	98408551	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98408551G>A	uc001kmq.3	-	6	1178	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	PIK3AP1_uc001kmp.3_Silent_p.N172N	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	350						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)		AGGCAGTGAGGTTCTTCAGTC	0.507000														38			10		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9352995	9352995	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9352995G>A	uc021wam.1	+	7	646	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	PLCB4_uc010gbw.1_Missense_Mutation_p.E211K|PLCB4_uc010gbx.3_Missense_Mutation_p.E211K|PLCB4_uc021wal.1_Missense_Mutation_p.E211K|PLCB4_uc002wnh.3_Missense_Mutation_p.E58K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	211					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAAGTTCTATGAACTGACACA	0.338000														83			13		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180489	124180489	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124180489G>A	uc010sag.2	-	0	174	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	58					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)		AATAGTACATGGGGGTGTGAA	0.483000														73			18		0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1585101	1585101	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:1585101G>A	uc022brv.1	-	0	351	c.351C>T	c.(349-351)atC>atT	p.I117I	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.I117I	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	117						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCTCCACGCTGATACAGGTCA	0.632000			T	CRLF2	"""B-ALL, Downs associated ALL"""									18			6		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34663440	34663440	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34663440G>A	uc001bxt.3	+	1	1773	c.935G>A	c.(934-936)aGg>aAg	p.R312K	C1orf94_uc001bxs.4_Missense_Mutation_p.R122K	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	122							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GCTCAGAAGAGGCAGCTCCCA	0.612000														39			15		0	0	1	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144297308	144297308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144297308C>T	uc003yxu.2	+	3	545	c.470C>T	c.(469-471)cCc>cTc	p.P157L		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 (GPIHBP1), mRNA.	157					cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity	p.P157P(1)		lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCAGGCGGCCCCCGGGGCAGC	0.687000														32			10		0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48240513	48240513	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48240513G>A	uc001rql.3	-	7	1385	c.984C>T	c.(982-984)tcC>tcT	p.S328S	VDR_uc001rqm.3_Silent_p.S278S|VDR_uc001rqn.3_Silent_p.S278S|VDR_uc010slq.2_Silent_p.S246S	NM_001017536	NP_001017536	P11473	VDR_HUMAN	Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 3, mRNA.	278	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCATGGTGAAGGACTCATTGG	0.552000														67			27		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995918	140995918	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140995918G>A	uc004fbt.3	+	3	3052	c.2728G>A	c.(2728-2730)Gaa>Aaa	p.E910K	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_Missense_Mutation_p.E569K	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	910	MAGE.						protein binding	p.D909N(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)					TACACTGGATGAAAAGGTGGA	0.468000										HNSCC(15;0.026)				75			86		0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86894926	86894926	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:86894926C>T	uc010mpz.3	-	15	1938	c.1792G>A	c.(1792-1794)Ggg>Agg	p.G598R	SLC28A3_uc011lsy.2_Missense_Mutation_p.G529R|SLC28A3_uc004anu.2_Missense_Mutation_p.G598R	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	598					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GCCACGGTCCCCGCAATCAGA	0.572000														28			6		0	0	1	0	0
ZNF643	65243	broad.mit.edu	37	1	40922631	40922631	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:40922631C>T	uc001cfn.2	+	2	525	c.228C>T	c.(226-228)ttC>ttT	p.F76F	ZNF643_uc001cfl.2_5'UTR|ZNF643_uc001cfm.2_5'UTR	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	Homo sapiens zinc finger protein 643 (ZNF643), mRNA.	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			TGTTAACCTTCAAGGACGTAT	0.488000														23			12		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003483	122003483	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122003483C>T	uc003eew.4	+	6	3150	c.2712C>T	c.(2710-2712)gtC>gtT	p.V904V	CASR_uc003eev.4_Silent_p.V894V	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	894					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)	GCAGCAACGTCTCCCGCAAGC	0.652000														33			21		0	0	1	0	0
FCN3	8547	broad.mit.edu	37	1	27697464	27697464	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27697464C>T	uc001boa.3	-	6	400	c.394_splice	c.e6-1	p.V132_splice	FCN3_uc001bob.3_Splice_Site_p.V121_splice	NM_003665	NP_003656	O75636	FCN3_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen) (FCN3), transcript variant 1, mRNA.	132	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCTGAAACACCTGGGGGAGGG	0.577000														69			10		0	0	1	0	0
EFHA2	286097	broad.mit.edu	37	8	16935338	16935338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:16935338C>T	uc003wxd.2	+	3	656	c.614C>T	c.(613-615)tCa>tTa	p.S205L		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	Homo sapiens EF-hand domain family, member A2 (EFHA2), mRNA.	205						integral to membrane	calcium ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(4)	23				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		TGGAAAGGCTCATCGAAGCTA	0.284000														45			17		0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12384536	12384536	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12384536G>A	uc010xmj.2	-	4	883	c.678C>T	c.(676-678)ttC>ttT	p.F226F	ZNF44_uc002mtl.3_Intron|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Silent_p.F178F	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CAGGAGAACTGAAGGTTTTTC	0.413000														80			22		0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66048628	66048628	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:66048628G>A	uc002api.3	-	2	546	c.161C>T	c.(160-162)tCt>tTt	p.S54F	DENND4A_uc002aph.3_Missense_Mutation_p.S54F|DENND4A_uc002apj.3_Missense_Mutation_p.S54F|DENND4A_uc010ujj.1_Missense_Mutation_p.S54F	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	54	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTCCCCAAGAGATTTGATAAT	0.378000														35			7		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567312	4567312	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4567312C>T	uc010qyf.2	+	0	892	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTATGCTGTTCGCACCAAGCA	0.448000														53			32		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92600303	92600303	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92600303G>T	uc001pdj.4	+	20	12072	c.12055G>T	c.(12055-12057)Gtg>Ttg	p.V4019L	FAT3_uc001pdi.4_Missense_Mutation_p.V459L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4019					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTGGGCTGCGTGCTCTATCC	0.657000										TCGA Ovarian(4;0.039)				3			3		0.115264	0.115276	1	1	0
ABCA4	24	broad.mit.edu	37	1	94463552	94463552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94463552C>T	uc001dqh.3	-	47	6698	c.6594G>A	c.(6592-6594)caG>caA	p.Q2198Q		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	2198					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)		GCCTCTCCCTCTGCACACTGC	0.567000														40			26		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51974720	51974720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51974720C>T	uc002abh.3	+	1	492	c.89C>T	c.(88-90)tCt>tTt	p.S30F	SCG3_uc010ufz.2_Intron	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	30					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		CTAGACAAATCTCTACATAAT	0.244000														37			16		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188164	140188164	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140188164G>A	uc003lhi.2	+	0	1493	c.1392G>A	c.(1390-1392)gtG>gtA	p.V464V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.V464V|PCDHAC2_uc011daa.2_Silent_p.V464V	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	478	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)			CAGTGTTCGTGAAGGAGAACA	0.642000														72			36		0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916336	72916336	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72916336G>A	uc002jme.1	-	1	778	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	USH1G_uc010wro.1_Silent_p.L96L	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	199					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)					GAGTACGGCAGGTGGCTGCCC	0.687000														43			16		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43926790	43926790	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:43926790G>A	uc010yny.2	+	7	776	c.693G>A	c.(691-693)atG>atA	p.M231I	PLEKHH2_uc002rte.3_Missense_Mutation_p.M231I|PLEKHH2_uc002rtf.3_Missense_Mutation_p.M230I	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	231						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTCTAGAAATGGAAATTCCAG	0.368000														54			23		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183710312	183710312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:183710312G>A	uc003ivd.1	+	23	5446	c.5371G>A	c.(5371-5373)Gac>Aac	p.D1791N		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1791					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GATCTATGACGACCACCGTAA	0.453000														16			5		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43439744	43439744	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43439744G>A	uc002ovl.4	-	1	344	c.242C>T	c.(241-243)tCa>tTa	p.S81L	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	81	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				TACTATATATGATGTAACATA	0.423000														329			88		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48650406	48650406	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48650406G>A	uc002irk.1	+	6	1444	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	CACNA1G_uc002iri.1_Missense_Mutation_p.D358N|CACNA1G_uc002irj.1_Missense_Mutation_p.D358N|CACNA1G_uc002irl.1_Missense_Mutation_p.D358N|CACNA1G_uc002irm.1_Missense_Mutation_p.D358N|CACNA1G_uc002irn.1_Missense_Mutation_p.D358N|CACNA1G_uc002iro.1_Missense_Mutation_p.D358N|CACNA1G_uc002irp.1_Missense_Mutation_p.D358N|CACNA1G_uc002irq.1_Missense_Mutation_p.D358N|CACNA1G_uc002irr.1_Missense_Mutation_p.D358N|CACNA1G_uc002irs.1_Missense_Mutation_p.D358N|CACNA1G_uc002irt.1_Missense_Mutation_p.D358N|CACNA1G_uc002iru.1_Missense_Mutation_p.D358N|CACNA1G_uc002irv.1_Missense_Mutation_p.D358N|CACNA1G_uc002irw.1_Missense_Mutation_p.D358N|CACNA1G_uc002irx.1_Missense_Mutation_p.D271N|CACNA1G_uc002iry.1_Missense_Mutation_p.D271N|CACNA1G_uc002isg.1_Missense_Mutation_p.D271N|CACNA1G_uc002ish.1_Missense_Mutation_p.D271N|CACNA1G_uc002isi.1_Missense_Mutation_p.D271N|CACNA1G_uc002irz.1_Missense_Mutation_p.D271N|CACNA1G_uc002isa.1_Missense_Mutation_p.D271N|CACNA1G_uc002isd.1_Missense_Mutation_p.D271N|CACNA1G_uc002isb.1_Missense_Mutation_p.D271N|CACNA1G_uc002isc.1_Missense_Mutation_p.D271N|CACNA1G_uc002ise.1_Missense_Mutation_p.D271N|CACNA1G_uc002isf.1_Missense_Mutation_p.D271N	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	358					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGCTGGGTCGACATCATGTA	0.552000														8			4		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31341840	31341840	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31341840C>T	uc002ebr.3	+	27	3291	c.3193C>T	c.(3193-3195)Ctc>Ttc	p.L1065F	ITGAM_uc002ebq.3_Missense_Mutation_p.L1064F|ITGAM_uc010can.3_Missense_Mutation_p.L470F	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	1064					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCATAACCACCTCCTGATCGT	0.617000														23			7		0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033329	41033329	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41033329C>T	uc021wjj.1	+	0	843	c.843C>T	c.(841-843)atC>atT	p.I281I	B3GALT5_uc002yyb.1_Silent_p.I281I|B3GALT5_uc002yye.2_Silent_p.I281I|B3GALT5_uc002yyi.1_Silent_p.I281I|B3GALT5_uc002yyj.1_Silent_p.I281I|B3GALT5_uc002yyk.1_Silent_p.I281I|B3GALT5_uc002yyl.1_Silent_p.I281I|B3GALT5_uc002yym.1_Silent_p.I281I	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA.	281					protein glycosylation	Golgi membrane|endoplasmic reticulum|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TCAGGAGGATCGTGGCCTGCC	0.577000														65			27		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83095854	83095854	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:83095854C>T	uc003uhy.2	-	3	1021	c.400G>A	c.(400-402)Ggt>Agt	p.G134S	SEMA3E_uc022agy.1_Missense_Mutation_p.G74S	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	134	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCTCCAGTACCACAGGTCAGA	0.383000														58			26		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201029892	201029892	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201029892G>A	uc001gvv.3	-	25	3535	c.3308C>T	c.(3307-3309)cCc>cTc	p.P1103L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1103					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.I1102L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGGTTTTTGGGAATGTAGCA	0.537000														277			18		0	0	1	0	0
LANCL3	347404	broad.mit.edu	37	X	37518741	37518741	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:37518741C>T	uc011mkd.2	+	2	1026	c.724C>T	c.(724-726)Ctt>Ttt	p.L242F	LANCL3_uc004ddp.2_Missense_Mutation_p.L242F	NM_001170331	NP_001163802	Q6ZV70	LANC3_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 3 (bacterial) (LANCL3), transcript variant 2, mRNA.	242							catalytic activity			lung(4)|pancreas(1)	5						GTCGTCTATTCTTCAGATGCT	0.433000														19			15		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981878	61981878	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61981878G>A	uc002yes.2	-	4	1063	c.885C>T	c.(883-885)atC>atT	p.I295I	CHRNA4_uc002yet.1_Silent_p.I119I|CHRNA4_uc010gke.1_Silent_p.I224I|CHRNA4_uc002yev.1_Silent_p.I119I|CHRNA4_uc010gkf.1_Silent_p.I119I	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	295					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TGGACGGGATGATCTCGGTGA	0.577000														62			27		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839224	62839224	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62839224C>T	uc002yii.3	+	6	1039	c.675C>T	c.(673-675)gtC>gtT	p.V225V	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	225	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGAGGTCGTCGAAGTCACCA	0.617000														31			13		0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44371764	44371764	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:44371764C>T	uc003oxl.3	+	6	1068	c.758_splice	c.e6+1	p.S253_splice		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	253					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	p.S253F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGCTAAGATCGTAAGTTGCC	0.398000														66			17		0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779519	97779519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:97779519G>A	uc010qop.2	+	8	950	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CC2D2B_uc001klk.3_Intron|CC2D2B_uc001kll.3_Missense_Mutation_p.E240K	NM_001159747	NP_001153219	Q6DHV5	C2D2B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2B (CC2D2B), transcript variant 1, mRNA.	240										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CTATTCAAAGGAAAGTTTCTG	0.333000														165			62		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018946	14018946	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:14018946G>A	uc001rbt.2	-	1	376	c.197C>T	c.(196-198)cCc>cTc	p.P66L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	66					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.P66P(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCCACCCGGGGTACCACGGA	0.557000														99			26		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401599	89401599	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89401599C>T	uc010upo.1	+	11	6157	c.5783C>T	c.(5782-5784)cCa>cTa	p.P1928L	ACAN_uc010upp.1_Missense_Mutation_p.P1928L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1928					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)			AGTGGAACTCCATCTAGTTTC	0.537000														75			25		0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153765949	153765949	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:153765949T>C	uc003lvh.3	+	6	1147	c.1015T>C	c.(1015-1017)Ttg>Ctg	p.L339L	GALNT10_uc003lvg.1_Silent_p.L339L|GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Silent_p.L180L	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	339	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGACCCAGGCTTGGAGATCTG	0.592000														87			39		0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	192053205	192053205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:192053205C>T	uc003fsx.3	-	2	1185	c.359G>A	c.(358-360)gGa>gAa	p.G120E	FGF12_uc003fsy.3_Missense_Mutation_p.G58E	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	120					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AGCCTTCACTCCTTGGATGGC	0.458000														84			33		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506447	11506447	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:11506447C>T	uc001qzw.1	-	3	624	c.587G>A	c.(586-588)gGa>gAa	p.G196E	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	258	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGTGG	0.607000														158			30		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215667	20215667	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20215667C>T	uc010tkt.2	+	0	81	c.81C>T	c.(79-81)ctC>ctT	p.L27L		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L27F(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCTATTTCTCTTCTTACTAT	0.393000														114			54		0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31606601	31606601	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31606601C>T	uc002wyj.3	+	8	1022	c.828C>T	c.(826-828)gcC>gcT	p.A276A		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	276						extracellular region	lipid binding										AGGCCGGTGCCCTCAACCTGG	0.667000														61			16		0	0	1	0	0
ATP1B4	23439	broad.mit.edu	37	X	119510247	119510247	+	Missense_Mutation	SNP	C	T	T	rs149447498		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:119510247C>T	uc004esr.3	+	5	856	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C	ATP1B4_uc004esq.3_Missense_Mutation_p.R254C|ATP1B4_uc011mtx.2_Missense_Mutation_p.R223C|ATP1B4_uc011mty.2_Missense_Mutation_p.R215C	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA.	258					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.R254C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TGTAGGCTTTCGTCCTGAGCT	0.363000														11			28		0	0	1	0	0
SH2B2	10603	broad.mit.edu	37	7	101957774	101957774	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:101957774C>T	uc011kko.2	+	5	1220	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L		NM_020979	NP_066189	O14492	SH2B2_HUMAN	Homo sapiens SH2B adaptor protein 2 (SH2B2), mRNA.	436					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						GCAGGGGGGCCCCGGAACCAC	0.627000														19			11		0	0	1	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998360	8998360	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:8998360G>A	uc022arp.1	-	0	802	c.802C>T	c.(802-804)Ctg>Ttg	p.L268L	PPP1R3B_uc003wsn.4_Silent_p.L268L|PPP1R3B_uc003wso.4_Silent_p.L268L	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.	268					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		TCTGGAAACAGACCATAGGAA	0.532000														41			16		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141007	143141007	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143141007C>T	uc011ktg.2	+	0	462	c.462C>T	c.(460-462)ttC>ttT	p.F154F	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	154					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTCCAGCTTCACCACCATTC	0.463000														161			66		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89388756	89388756	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89388756C>T	uc010upo.1	+	6	1446	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S	ACAN_uc002bmx.3_Missense_Mutation_p.P358S|ACAN_uc010upp.1_Missense_Mutation_p.P358S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	358					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)			TGTGGACATCCCAGAAAACTT	0.577000														44			29		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170066148	170066148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170066148C>T	uc002ues.3	-	37	6497	c.6284G>A	c.(6283-6285)cGa>cAa	p.R2095Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2095					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.R2095Q(4)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGTGCGTTTCGTCCTGGAAG	0.413000														48			13		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159688919	159688919	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:159688919G>A	uc010kjv.3	+	21	5730	c.5530G>A	c.(5530-5532)Ggg>Agg	p.G1844R		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1844						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGGAAGAACAGGGCCTCAGTC	0.438000														16			5		0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6325221	6325221	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:6325221G>A	uc003gja.3	-	8	1176	c.1152C>T	c.(1150-1152)ccC>ccT	p.P384P	PPP2R2C_uc003gjb.3_Silent_p.P367P|PPP2R2C_uc003gjc.3_Silent_p.P384P|PPP2R2C_uc011bwd.2_Silent_p.P377P|PPP2R2C_uc011bwe.2_Silent_p.P377P	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	384					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GCACAGCCCGGGGCTTGCTGC	0.617000														44			9		0	0	1	0	0
ESAM	90952	broad.mit.edu	37	11	124624623	124624623	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124624623G>A	uc001qav.4	-	4	817	c.644C>T	c.(643-645)tCg>tTg	p.S215L	VSIG2_uc001qas.3_5'Flank|VSIG2_uc001qat.3_5'Flank|ESAM_uc010sao.2_Missense_Mutation_p.S36L|ESAM_uc001qau.4_Missense_Mutation_p.S142L|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Non-coding_Transcript	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	215	Ig-like C2-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	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;0.022)		CATGGAAGACGAAAGGTTGGT	0.483000														131			51		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40411940	40411940	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40411940C>T	uc002omp.4	-	6	3696	c.3688G>A	c.(3688-3690)Gga>Aga	p.G1230R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1230	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTGCGGTCCGCAGCTGGAG	0.667000														51			20		0	0	1	0	0
TMEM150B	284417	broad.mit.edu	37	19	55832399	55832399	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55832399C>T	uc010esw.1	-	2	179	c.6G>A	c.(4-6)tgG>tgA	p.W2*	TMEM150B_uc010yfu.1_Nonsense_Mutation_p.W2*|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript|TMEM150B_uc002qki.3_Nonsense_Mutation_p.W2*	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	Homo sapiens transmembrane protein 150B (TMEM150B), mRNA.	2						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						ACAGGTAGCCCCACATGCCGG	0.602000														19			11		0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78392180	78392180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:78392180G>A	uc001dic.4	+	6	868	c.571G>A	c.(571-573)Gat>Aat	p.D191N	NEXN_uc001dia.3_Missense_Mutation_p.D177N|NEXN_uc009wcb.1_Missense_Mutation_p.D113N|NEXN_uc001dib.4_Missense_Mutation_p.D127N|NEXN_uc001did.1_Missense_Mutation_p.D101N|NEXN_uc001dif.1_Missense_Mutation_p.D83N	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	191	Glu-rich.				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)		GAATTTTGAGGATCTAGAAAA	0.318000														97			9		0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24839717	24839717	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24839717G>A	uc001wpc.3	+	1	1434	c.1113G>A	c.(1111-1113)gaG>gaA	p.E371E	NFATC4_uc010alr.3_Silent_p.E434E|NFATC4_uc010tok.2_Silent_p.E434E|NFATC4_uc010tol.2_Silent_p.E434E|NFATC4_uc010als.2_Silent_p.E384E|NFATC4_uc010too.2_Silent_p.E384E|NFATC4_uc010tom.2_Silent_p.E384E|NFATC4_uc010ton.2_Silent_p.E384E|NFATC4_uc010toq.2_Silent_p.E403E|NFATC4_uc010alt.3_Silent_p.E403E|NFATC4_uc010top.2_Silent_p.E403E|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Silent_p.E371E|NFATC4_uc010tos.2_Silent_p.E301E|NFATC4_uc010tot.2_Silent_p.E359E|NFATC4_uc010tou.2_Silent_p.E301E|NFATC4_uc010tov.2_Silent_p.E359E|NFATC4_uc010tow.2_Silent_p.E301E|NFATC4_uc010alv.3_Silent_p.E359E|NFATC4_uc010tox.2_Silent_p.E301E|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	371					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.K370K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCCGGAAGGAGGTGGCTGGCA	0.642000														46			9		0	0	1	0	0
LOXL1	4016	broad.mit.edu	37	15	74238812	74238812	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74238812C>T	uc002awc.1	+	2	1602	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F		NM_005576	NP_005567	Q08397	LOXL1_HUMAN	Homo sapiens lysyl oxidase-like 1 (LOXL1), mRNA.	422	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						TACTGCGCTTCCCCCAGCGCG	0.677000														46			9		0	0	1	0	0
IFNA10	3446	broad.mit.edu	37	9	21207021	21207021	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21207021G>A	uc003zoq.1	-	0	122	c.76C>T	c.(76-78)Ctg>Ttg	p.L26L	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	26					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		GTCTGAGGCAGATCACAGCCT	0.493000														87			10		0	0	1	0	0
MRM1	79922	broad.mit.edu	37	17	34964690	34964690	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:34964690C>T	uc002hne.3	+	4	1116	c.901C>T	c.(901-903)Cac>Tac	p.H301Y	MRM1_uc002hnf.3_Missense_Mutation_p.H106Y	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	Homo sapiens mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) (MRM1), nuclear gene encoding mitochondrial protein, mRNA.	301					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	p.L300I(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		AATTCTTCTTCACTCCATTTG	0.542000														106			81		0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50170331	50170331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50170331C>T	uc002ppa.3	+	2	1097	c.415C>T	c.(415-417)Ccc>Tcc	p.P139S	IRF3_uc002poy.2_5'Flank|IRF3_uc021uxp.1_5'Flank|IRF3_uc021uxq.1_5'Flank|IRF3_uc002pot.2_5'Flank|IRF3_uc021uxr.1_5'Flank|IRF3_uc021uxs.1_5'Flank|IRF3_uc002pow.3_5'Flank|IRF3_uc021uxo.1_5'Flank|IRF3_uc002pou.3_5'Flank|IRF3_uc010end.2_5'Flank|IRF3_uc002poz.1_5'Flank|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Missense_Mutation_p.P138S	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	139					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		AAGATGTCTTCCCTGCTCCCT	0.607000														68			28		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080468	42080468	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:42080468G>A	uc002yyq.1	-	1	725	c.273C>T	c.(271-273)ttC>ttT	p.F91F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	91	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTAAGGTACTGAAGCTTGAAG	0.498000														109			41		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164846	26164846	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26164846C>T	uc003abz.1	+	3	1213	c.963C>T	c.(961-963)ttC>ttT	p.F321F	MYO18B_uc003aca.1_Silent_p.F202F|MYO18B_uc010guy.1_Silent_p.F202F|MYO18B_uc010guz.1_Silent_p.F202F|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	321						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						GGGGAGGTTTCCTGGGAAGAA	0.532000														17			4		0	0	1	0	0
CST8	10047	broad.mit.edu	37	20	23476501	23476501	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:23476501C>T	uc002wth.1	+	3	736	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S		NM_005492	NP_005483	O60676	CST8_HUMAN	Homo sapiens cystatin 8 (cystatin-related epididymal specific) (CST8), mRNA.	127						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGGAGCACTTCCCTGGAATGG	0.358000														150			14		0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11504555	11504555	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:11504555G>A	uc001iks.1	-	13	2466	c.2423C>T	c.(2422-2424)tCa>tTa	p.S808L	USP6NL_uc001ikt.3_Missense_Mutation_p.S791L	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	791						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TGCGGCCGGTGAAGCTTTATA	0.532000														138			40		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73462316	73462316	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73462316C>T	uc001jrx.4	+	22	2982	c.2592C>T	c.(2590-2592)ccC>ccT	p.P864P	CDH23_uc001jry.3_Silent_p.P864P|CDH23_uc001jrz.3_Silent_p.P864P	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	866	Cadherin 8.				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						GTGGCAGGCCCCCTCTGAAAG	0.567000														188			61		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115143510	115143510	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:115143510C>T	uc001efd.1	-	13	2589	c.1887G>A	c.(1885-1887)atG>atA	p.M629I	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.M572I	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	629	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		AAGGAGCTTCCATGACACTTC	0.423000														84			38		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108383124	108383124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:108383124C>T	uc001pkk.3	-	5	3221	c.3110G>A	c.(3109-3111)gGa>gAa	p.G1037E	EXPH5_uc010rvz.2_Missense_Mutation_p.G881E|EXPH5_uc010rvy.2_Missense_Mutation_p.G849E	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1037					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TATTTTACTTCCTGACTGCCT	0.373000														68			29		0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74880393	74880394	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:74880393_74880394CT>TC	uc001owb.3	+	4	1019_1020	c.624_625CT>TC	c.(622-627)cccttt>ccTCtt	p.F209L	SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Missense_Mutation_p.F65L|SLCO2B1_uc010rrs.2_Missense_Mutation_p.F93L|SLCO2B1_uc001owc.3_Intron|SLCO2B1_uc001owd.3_Missense_Mutation_p.F187L	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	209					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CCATTCAGCCCTTTGGCATCTC	0.599000														78			21		0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183381334	183381334	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183381334C>T	uc003flv.3	+	3	1304	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S	KLHL24_uc003flw.3_Missense_Mutation_p.P337S|KLHL24_uc003flx.3_Missense_Mutation_p.P337S	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	337						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GTGCTACGATCCTGTAACAGG	0.413000														121			41		0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128178990	128178990	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:128178990G>A	uc002tol.3	+	2	292	c.265G>A	c.(265-267)Gag>Aag	p.E89K	PROC_uc002tok.3_Missense_Mutation_p.E68K|PROC_uc010yzi.2_Missense_Mutation_p.E89K|PROC_uc010yzj.2_5'UTR|PROC_uc010yzk.2_Missense_Mutation_p.E89K	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	68			G -> C (in patients with PROC deficiency).		blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TGACTTCGAGGAGGCCAAGGA	0.587000														40			17		0	0	1	0	0
CCDC94	55702	broad.mit.edu	37	19	4268649	4268649	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4268649C>T	uc002lzv.4	+	7	961	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L		NM_018074	NP_060544	Q9BW85	CCD94_HUMAN	Homo sapiens coiled-coil domain containing 94 (CCDC94), mRNA.	310										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CCTGAGCCAACTGGGTGCATA	0.622000														28			7		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174689	207174689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:207174689G>A	uc002vbp.2	+	4	5687	c.5437G>A	c.(5437-5439)Gat>Aat	p.D1813N		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1813							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGATAATCCTGATGAACCAGT	0.393000														55			28		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167674097	167674097	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:167674097G>A	uc010jjd.3	+	26	6126	c.6126G>A	c.(6124-6126)atG>atA	p.M2042I	ODZ2_uc003lzr.4_Missense_Mutation_p.M1812I|ODZ2_uc003lzt.4_Missense_Mutation_p.M1415I|ODZ2_uc010jje.3_Missense_Mutation_p.M1306I	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.G2042W(1)		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)		TCTTGAAGATGGTCAACCTCC	0.527000														72			32		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3236042	3236042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:3236042C>T	uc004crg.4	-	5	5837	c.5680G>A	c.(5680-5682)Gct>Act	p.A1894T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1894	Ig-like C2-type 3.					extracellular region				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)				GTCATAAGAGCTCCTGGAGAA	0.408000														14			14		0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114903687	114903687	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:114903687C>T	uc021pyi.1	+	6	1198	c.691C>T	c.(691-693)Cca>Tca	p.P231S	TCF7L2_uc001lah.3_Missense_Mutation_p.P208S|TCF7L2_uc010qro.2_Missense_Mutation_p.P208S|TCF7L2_uc001lae.4_Missense_Mutation_p.P231S|TCF7L2_uc010qrm.2_Missense_Mutation_p.P231S|TCF7L2_uc010qrn.2_Missense_Mutation_p.P174S|TCF7L2_uc021pyg.1_5'UTR|TCF7L2_uc021pyh.1_Missense_Mutation_p.P208S|TCF7L2_uc021pyj.1_Missense_Mutation_p.P231S|TCF7L2_uc021pyk.1_Missense_Mutation_p.P208S|TCF7L2_uc021pyl.1_Missense_Mutation_p.P208S|TCF7L2_uc010qrp.2_Missense_Mutation_p.P208S|TCF7L2_uc021pym.1_Missense_Mutation_p.P208S|TCF7L2_uc021pyn.1_Missense_Mutation_p.P231S|TCF7L2_uc021pyo.1_Missense_Mutation_p.P231S|TCF7L2_uc021pyp.1_Missense_Mutation_p.P231S|TCF7L2_uc010qrq.2_Missense_Mutation_p.P208S|TCF7L2_uc001lac.4_Missense_Mutation_p.P208S|TCF7L2_uc010qrk.2_Missense_Mutation_p.P208S|TCF7L2_uc001lad.4_Missense_Mutation_p.P208S|TCF7L2_uc001lag.4_Missense_Mutation_p.P255S|TCF7L2_uc001laf.4_Missense_Mutation_p.P208S|TCF7L2_uc010qrl.2_Missense_Mutation_p.P208S|TCF7L2_uc010qrr.2_Missense_Mutation_p.P150S|TCF7L2_uc010qrs.2_Missense_Mutation_p.P102S|TCF7L2_uc010qrt.2_Missense_Mutation_p.P102S|TCF7L2_uc010qru.2_Missense_Mutation_p.P125S|TCF7L2_uc010qrv.2_Missense_Mutation_p.P48S|TCF7L2_uc010qrw.2_5'UTR|TCF7L2_uc010qrx.2_Missense_Mutation_p.P88S	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	231	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTCAGGAATCCCACGGCCTCC	0.527000			T	VTI1A	colorectal									41			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073561	9073562	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9073561_9073562CC>TT	uc002mkp.3	-	2	14088_14089	c.13884_13885GG>AA	c.(13882-13887)ggggct>ggAAct	p.A4629T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4631	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						TCAGTAATAGCCCCCACAGACA	0.460000														62			18		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6093215	6093215	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:6093215C>T	uc002wmr.3	-	3	1230	c.441G>A	c.(439-441)aaG>aaA	p.K147K	FERMT1_uc010gbt.3_5'UTR|FERMT1_uc002wms.3_Silent_p.K147K	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	147	FERM.|Poly-Lys.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TCTTCTTCTTCTTAAAATAGT	0.299000														102			28		0	0	1	0	0
TNNI1	7135	broad.mit.edu	37	1	201380655	201380655	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201380655C>T	uc021phe.1	-	5	286	c.286G>A	c.(286-288)Gac>Aac	p.D96N	TNNI1_uc021phd.1_Missense_Mutation_p.D75N|TNNI1_uc001gwo.1_Non-coding_Transcript|TNNI1_uc001gwp.3_Missense_Mutation_p.D75N	NM_003281	NP_003272	P19237	TNNI1_HUMAN	Homo sapiens troponin I type 1 (skeletal, slow) (TNNI1), mRNA.	96					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						AGCTTCAGGTCCTTAATCTGT	0.637000														15			6		0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110019517	110019517	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110019517C>T	uc001dxp.3	+	3	740	c.374C>T	c.(373-375)tCc>tTc	p.S125F	SYPL2_uc001dxo.2_Missense_Mutation_p.S125F|SYPL2_uc010ovk.2_Missense_Mutation_p.S125F|SYPL2_uc001dxq.2_Missense_Mutation_p.S33F	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	Homo sapiens synaptophysin-like 2 (SYPL2), mRNA.	125	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGCATCTTTTCCTTCTTCTAT	0.552000														61			28		0	0	1	0	0
RBP5	83758	broad.mit.edu	37	12	7280952	7280952	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7280952G>A	uc001qsq.3	-	1	231	c.136C>T	c.(136-138)Cag>Tag	p.Q46*	CLSTN3_uc001qsr.3_5'Flank	NM_031491	NP_113679	P82980	RET5_HUMAN	Homo sapiens retinol binding protein 5, cellular (RBP5), mRNA.	46						cytoplasm	retinal binding|retinol binding|transporter activity			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Vitamin A(DB00162)	TGGTTGCCCTGGTGTTCGATC	0.582000														71			10		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55331371	55331371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55331371C>T	uc002qhl.4	+	3	622	c.559C>T	c.(559-561)Ctt>Ttt	p.L187F	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.L187F|KIR3DL2_uc010esf.3_Missense_Mutation_p.L92F|KIR3DL2_uc021vbo.1_Missense_Mutation_p.L187F|KIR3DL2_uc002qhk.4_Missense_Mutation_p.L187F			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	187	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TCCCATGATGCTTGCCCTTGC	0.547000														140			38		0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84363139	84363139	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:84363139C>T	uc004een.3	-	0	836	c.836G>A	c.(835-837)tGg>tAg	p.W279*		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	92	Gln-rich.						N-acetyltransferase activity	p.W279*(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GCTTGCACTCCATTGGTTCAT	0.438000														51			13		0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67854817	67854817	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67854817C>T	uc010vka.2	+	2	299	c.223C>T	c.(223-225)Cga>Tga	p.R75*	TSNAXIP1_uc010cep.2_5'UTR|TSNAXIP1_uc010vjz.1_Intron|TSNAXIP1_uc002euf.4_Intron|TSNAXIP1_uc010vkb.2_Intron|TSNAXIP1_uc002eug.4_Intron|TSNAXIP1_uc002euh.4_Intron|TSNAXIP1_uc002eui.4_Intron|TSNAXIP1_uc002euj.3_Nonsense_Mutation_p.R21*|TSNAXIP1_uc002euk.3_5'Flank	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA.	21					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TTTGCAAAATCGAAAACCCTG	0.582000														229			74		0	0	1	0	0
PIGT	51604	broad.mit.edu	37	20	44050117	44050117	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44050117C>T	uc002xoh.2	+	8	1218	c.1128C>T	c.(1126-1128)caC>caT	p.H376H	PIGT_uc010ghd.2_Silent_p.H283H|PIGT_uc010ghc.2_Non-coding_Transcript|PIGT_uc010ghe.2_Silent_p.H339H|PIGT_uc010ghf.2_Silent_p.H329H|PIGT_uc010zwz.2_Silent_p.H114H|PIGT_uc010zww.2_Silent_p.H320H|PIGT_uc010zwy.2_Silent_p.H274H|PIGT_uc002xoj.2_Intron|PIGT_uc010zwu.2_Silent_p.H114H|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_Silent_p.H114H|PIGT_uc010zwx.2_Silent_p.H211H|PIGT_uc010zxa.2_Silent_p.H214H|PIGT_uc002xol.1_Intron|PIGT_uc010zxb.1_Silent_p.H52H	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	376					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				ACAACACCCACCCATACCGGG	0.622000														79			13		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16256058	16256058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16256058C>T	uc001axk.1	+	10	3527	c.3323C>T	c.(3322-3324)cCc>cTc	p.P1108L	SPEN_uc010obp.1_Missense_Mutation_p.P1067L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1108					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)		AAGCCCATTCCCTCAAAACCA	0.463000														38			12		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915535	119915535	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:119915535G>A	uc003vjj.1	+	0	1814	c.849G>A	c.(847-849)gaG>gaA	p.E283E		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	283					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)					CAGACAATGAGGACGTCAGCG	0.537000														38			17		0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123755273	123755273	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123755273C>T	uc001pzi.3	-	1	460	c.252G>A	c.(250-252)ctG>ctA	p.L84L		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	84						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ATTTCATACCCAGGATTAAGT	0.423000														67			34		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657943	72657943	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:72657943G>A	uc003txs.1	-	12	1969	c.1041C>T	c.(1039-1041)tcC>tcT	p.S347S	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		gtttccctctggatgacatga	0.493000														73			41		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569269	179569269	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179569269G>A	uc021vsy.1	-	101	26423	c.26198C>T	c.(26197-26199)cCa>cTa	p.P8733L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P5394L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9660	Ig-like 70.						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)			AGCGATGTGTGGACCACAAAC	0.373000														37			12		0	0	1	0	0
NUCB2	4925	broad.mit.edu	37	11	17332408	17332408	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17332408C>A	uc001mmw.3	+	6	765	c.520C>A	c.(520-522)Cat>Aat	p.H174N	NUCB2_uc001mms.1_Missense_Mutation_p.H175N|NUCB2_uc001mmt.1_Missense_Mutation_p.H174N|NUCB2_uc001mmv.1_Missense_Mutation_p.H174N|NUCB2_uc009ygz.3_Missense_Mutation_p.H174N	NM_005013	NP_005004	P80303	NUCB2_HUMAN	Homo sapiens nucleobindin 2 (NUCB2), mRNA.	174						ER-Golgi intermediate compartment|Golgi apparatus|cytosol|extracellular space|plasma membrane	DNA binding|calcium ion binding	p.R173H(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CAAGACTCGTCATGAAGAATT	0.279000														106			47		1.21353e-23	1.22068e-23	1	1	0
EPHB2	2048	broad.mit.edu	37	1	23237062	23237062	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:23237062C>T	uc009vqj.1	+	13	2835	c.2690C>T	c.(2689-2691)tCc>tTc	p.S897F	EPHB2_uc001bge.3_Missense_Mutation_p.S898F|EPHB2_uc001bgf.3_Missense_Mutation_p.S897F|EPHB2_uc010odu.2_Missense_Mutation_p.S839F	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	897					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCGCCCCTCTCCTCTGGGTAA	0.617000														30			10		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38237701	38237701	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:38237701G>A	uc010abx.3	-	5	1775	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	TRPC4_uc010abv.3_Silent_p.L94L|TRPC4_uc001uwt.3_Silent_p.L514L|TRPC4_uc001uws.3_Silent_p.L514L|TRPC4_uc010tey.2_Silent_p.L514L|TRPC4_uc010abw.3_Silent_p.L341L|TRPC4_uc010aby.3_Silent_p.L514L	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	514					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AAAATGTCCAGGAGCATTCTT	0.388000														63			23		0	0	1	0	0
C11orf9	745	broad.mit.edu	37	11	61533562	61533562	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:61533562C>T	uc001nsc.1	+	2	363	c.267C>T	c.(265-267)ccC>ccT	p.P89P	C11orf9_uc001nse.1_Silent_p.P80P	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	89	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						GCCATGGTCCCCTCCCACCCC	0.741000														30			7		0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78316640	78316640	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:78316640A>C	uc002bcy.4	-	5	1328	c.1328T>G	c.(1327-1329)cTc>cGc	p.L443R	TBC1D2B_uc010bla.3_Missense_Mutation_p.L443R	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	443						intracellular	Rab GTPase activator activity|protein binding			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GGTCTCCATGAGCATTCCCAG	0.602000														78			27		0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120903846	120903846	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:120903846C>T	uc002tmg.3	+	19	1965	c.1774C>T	c.(1774-1776)Cag>Tag	p.Q592*	EPB41L5_uc010fll.3_Nonsense_Mutation_p.Q592*|EPB41L5_uc010flm.3_Nonsense_Mutation_p.Q396*	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	592						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TGCCAATGTTCAGGATGCTGC	0.308000														31			12		0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106704939	106704939	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:106704939C>T	uc001tln.3	+	1	260	c.86C>T	c.(85-87)tCg>tTg	p.S29L	TCP11L2_uc001tll.3_Missense_Mutation_p.S29L|TCP11L2_uc001tlm.3_Missense_Mutation_p.S29L|TCP11L2_uc001tlo.1_Non-coding_Transcript	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.	29	Ser-rich.									endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AGCATGGCTTCGCTCAGTGAC	0.542000														83			7		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145111140	145111140	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145111140C>T	uc003zar.3	-	14	2088	c.2006G>A	c.(2005-2007)gGg>gAg	p.G669E	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	669							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CTGGTAGCCCCCCTCAAAGTA	0.637000														59			18		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57648289	57648289	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57648289T>A	uc002qnz.1	-	3	579	c.193A>T	c.(193-195)Aag>Tag	p.K65*		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATGGCTCCTTTCCTTGTTCC	0.527000														92			38		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103294589	103294589	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:103294589C>T	uc022ajr.1	-	12	1665	c.1505G>A	c.(1504-1506)gGa>gAa	p.G502E	RELN_uc022ajq.1_Missense_Mutation_p.G502E|RELN_uc010liz.3_Missense_Mutation_p.G502E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	502					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)		CTCTTTTCTTCCTTCAATTTT	0.398000														79			28		0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013265	142013265	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142013265G>A	uc003vxg.3	+	1	149	c.120G>A	c.(118-120)ttG>ttA	p.L40L	TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGAAGTCTTTGAAATGTGAAC	0.438000														78			33		0	0	1	0	0
SLC25A18	83733	broad.mit.edu	37	22	18070755	18070755	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:18070755G>A	uc002zmp.1	+	8	1134	c.640G>A	c.(640-642)Gag>Aag	p.E214K	SLC25A18_uc010gqx.3_Missense_Mutation_p.E214K|SLC25A18_uc002zmq.1_Missense_Mutation_p.E214K	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier), member 18 (SLC25A18), nuclear gene encoding mitochondrial protein, mRNA.	214						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	GGGGTTCAACGAGCTCGCCGG	0.532000														101			47		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831246	61831246	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61831246G>A	uc001jky.3	-	36	9731	c.9393C>T	c.(9391-9393)acC>acT	p.T3131T	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.	3131					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						TTGTATAAAAGGTCCCCCTGG	0.408000														184			43		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161139349	161139349	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:161139349C>T	uc003qtm.4	+	7	923	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	271					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATCTTCTGGTCCCACCTACCA	0.512000														55			43		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110831646	110831646	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:110831646G>A	uc001vqw.4	-	29	2438	c.2316C>T	c.(2314-2316)atC>atT	p.I772I		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	772	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGGGGTCCGATCGCTCCAT	0.577000														81			32		0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	192053172	192053172	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:192053172C>G	uc003fsx.3	-	2	1218	c.392G>C	c.(391-393)gGt>gCt	p.G131A	FGF12_uc003fsy.3_Missense_Mutation_p.G69A	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	131					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		ATAGCCTTCACCATTCATGGC	0.463000														98			22		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52822006	52822006	+	Silent	SNP	C	T	T	rs145881645	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52822006C>T	uc003dfs.3	+	16	1959	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.F501F|ITIH1_uc021wzg.1_Silent_p.F355F|ITIH1_uc021wzh.1_Silent_p.F355F|ITIH1_uc003dft.3_Silent_p.F244F	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	643	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	p.F643L(2)|p.F643F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CATCAGCGTTCGTGCTGTCAG	0.612000														121			38		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3855571	3855571	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:3855571G>A	uc022aqr.1	-	4	1062	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	224	CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCTGAAGGGAAGTGCGGGC	0.572000														5			3		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540322	133540322	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:133540322G>A	uc002ttp.3	-	13	4436	c.4062C>T	c.(4060-4062)agC>agT	p.S1354S	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1354							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGCTGCCTGAGCTCCCCAGGG	0.617000														31			14		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762606	24762606	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:24762606G>A	uc001iru.4	+	5	1699	c.1296G>A	c.(1294-1296)gcG>gcA	p.A432A	KIAA1217_uc001irs.3_Silent_p.A352A|KIAA1217_uc001irt.4_Silent_p.A432A|KIAA1217_uc010qcy.2_Silent_p.A432A|KIAA1217_uc010qcz.2_Silent_p.A432A|KIAA1217_uc001irv.1_Silent_p.A282A|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.A150A|KIAA1217_uc001irz.3_Silent_p.A150A|KIAA1217_uc001irx.3_Silent_p.A150A|KIAA1217_uc001iry.3_Silent_p.A150A	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	432					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCCGGTCAGCGAGTGCTTATT	0.507000														69			22		0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	994959	994959	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:994959C>T	uc021qss.1	+	18	6412	c.5769C>T	c.(5767-5769)ttC>ttT	p.F1923F	WNK1_uc001qio.4_Silent_p.F1663F|WNK1_uc021qst.1_Silent_p.F1915F|WNK1_uc001qip.4_Silent_p.F1416F|WNK1_uc001qir.4_Silent_p.F836F	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1663					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGTCTCTGTTCAGTGAACACA	0.483000														60			21		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159783292	159783292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159783292C>T	uc001fud.4	+	6	1065	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S	FCRL6_uc001fuc.2_Silent_p.S348S|FCRL6_uc009wsz.1_Silent_p.S246S|FCRL6_uc009wta.3_Silent_p.S341S	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	341						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CCCTTCCATCCCAGATACCAC	0.557000														86			22		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833963	61833963	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61833963C>T	uc001jky.3	-	36	7014	c.6676G>A	c.(6676-6678)Gaa>Aaa	p.E2226K	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.	2226					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						TCATCTTCTTCACTACTGGCT	0.408000														136			31		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61848091	61848091	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61848091C>T	uc001jky.3	-	28	3692	c.3354G>A	c.(3352-3354)ggG>ggA	p.G1118G	ANK3_uc001jkw.3_Silent_p.G252G|ANK3_uc009xpa.3_Silent_p.G252G|ANK3_uc001jkx.3_Silent_p.G296G|ANK3_uc010qih.2_Silent_p.G1119G|ANK3_uc001jkz.4_Silent_p.G1112G|ANK3_uc001jla.1_Silent_p.G184G|ANK3_uc001jlb.1_Silent_p.G636G	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1118					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						TACGCTTTTTCCCTAACTCTT	0.393000														98			9		0	0	1	0	0
GLB1L	79411	broad.mit.edu	37	2	220108019	220108019	+	Silent	SNP	G	A	A	rs13388808		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220108019G>A	uc002vkm.3	-	2	329	c.90C>T	c.(88-90)ttC>ttT	p.F30F	GLB1L_uc010zkx.2_Silent_p.F30F|GLB1L_uc002vkn.3_Silent_p.F30F|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.2_5'Flank|STK16_uc010fwf.3_5'Flank|STK16_uc002vkp.2_5'Flank	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	30					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TATCCACTACGAACGACCGAG	0.602000														75			32		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169842719	169842719	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169842719G>A	uc002ueo.1	-	9	1110	c.984C>T	c.(982-984)ttC>ttT	p.F328F		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	328	ABC transmembrane type-1 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GACACCACACGAATCCAGTAA	0.453000														76			34		0	0	1	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1506656	1506656	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:1506656G>A	uc010xgq.1	-	11	1396	c.1077C>T	c.(1075-1077)ccC>ccT	p.P359P	ADAMTSL5_uc010dsl.2_Silent_p.P118P|ADAMTSL5_uc002ltd.2_Silent_p.P349P	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	Homo sapiens ADAMTS-like 5 (ADAMTSL5), mRNA.	349	NTR.					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		AGGGTGGGCAGGGGTCTGTGG	0.682000														5			5		0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4525644	4525644	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4525644C>T	uc002mas.3	-	6	773	c.720_splice	c.e6+1	p.L240_splice		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	240						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CGGGCTCTCACCAGCTCCAGC	0.637000														50			12		0	0	1	0	0
TM4SF19	116211	broad.mit.edu	37	3	196053858	196053858	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:196053858C>T	uc010iad.2	-	2	405	c.247G>A	c.(247-249)Ggc>Agc	p.G83S	TM4SF19_uc003fwj.3_Non-coding_Transcript|TM4SF19_uc003fwl.2_Missense_Mutation_p.G83S|TM4SF19_uc021xjs.1_Missense_Mutation_p.G83S|TM4SF19_uc011btv.2_Intron	NM_001204897	NP_001191826	Q96DZ7	T4S19_HUMAN	Homo sapiens transmembrane 4 L six family member 19 (TM4SF19), transcript variant 2, mRNA.	83						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CTGAAGCAGCCGTATCTCCAG	0.512000														25			8		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15637062	15637062	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:15637062C>T	uc001rcv.2	+	1	700	c.230C>T	c.(229-231)aCt>aTt	p.T77I	PTPRO_uc001rcw.2_Missense_Mutation_p.T77I|PTPRO_uc001rcu.2_Missense_Mutation_p.T77I	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	77	Fibronectin type-III 1.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTCAACAGCACTTTGCCTCCT	0.393000														54			21		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33585684	33585684	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:33585684C>T	uc021vft.1	+	26	4044	c.4021C>T	c.(4021-4023)Caa>Taa	p.Q1341*	LTBP1_uc002rou.3_Nonsense_Mutation_p.Q1015*|LTBP1_uc002rov.3_Nonsense_Mutation_p.Q962*|LTBP1_uc010ymz.2_Nonsense_Mutation_p.Q973*|LTBP1_uc010yna.2_Nonsense_Mutation_p.Q920*|LTBP1_uc010ynb.2_Nonsense_Mutation_p.Q239*	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1341					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGATGTAGATCAACCCAAAGA	0.403000														78			26		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120989342	120989342	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:120989342C>T	uc010rzo.2	+	5	1118	c.1118C>T	c.(1117-1119)tCa>tTa	p.S373L		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	373	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGCAGAGGTTCAGCCGTCTCC	0.537000														102			11		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13919431	13919431	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13919431C>T	uc003jfd.2	-	6	871	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	277	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)					TCATCCGCTTCCTTCAGCAGC	0.483000									Kartagener syndrome					274			23		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45670725	45670725	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45670725C>T	uc002zeg.1	-	9	1361	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	DNMT3L_uc002zeh.1_Missense_Mutation_p.E293K	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	293					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TCCAGGTCTTCCTTGTTCAGC	0.642000														69			19		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518403	113518403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:113518403G>A	uc010ljy.1	-	3	2775	c.2744C>T	c.(2743-2745)cCt>cTt	p.P915L		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	915					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTGGAAAAAGGAGAGCTATT	0.403000														101			34		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731606	92731606	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92731606C>T	uc003umf.3	-	2	4075	c.3805G>A	c.(3805-3807)Gat>Aat	p.D1269N	SAMD9_uc003umg.3_Missense_Mutation_p.D1269N|SAMD9_uc022ahg.1_Missense_Mutation_p.D1269N	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1269						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)			TCAAAAAAATCAAAGGACTTT	0.313000														65			21		0	0	1	0	0
CPEB3	22849	broad.mit.edu	37	10	93902842	93902843	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:93902842_93902843GG>AA	uc001khw.2	-	5	1600_1601	c.1396_1397CC>TT	c.(1396-1398)cct>TTt	p.P466F	CPEB3_uc001khu.2_Missense_Mutation_p.P475F|CPEB3_uc001khv.2_Missense_Mutation_p.P452F|CPEB3_uc010qnn.2_Missense_Mutation_p.P452F	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	466	RRM 1.						RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TACTACGAGAGGTCCAAACCTG	0.401000														57			22		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46827113	46827113	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46827113G>A	uc003oyo.3	-	16	2816	c.2527C>T	c.(2527-2529)Cct>Tct	p.P843S	GPR116_uc011dwj.1_Missense_Mutation_p.P398S|GPR116_uc011dwk.1_Missense_Mutation_p.P272S|GPR116_uc003oyp.3_Missense_Mutation_p.P701S|GPR116_uc003oyq.3_Missense_Mutation_p.P843S|GPR116_uc010jzi.1_Missense_Mutation_p.P515S	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	843					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAGGACAAAGGAGGGCTATCT	0.448000														40			20		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935849	30935849	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:30935849G>A	uc002nsu.1	+	1	1518	c.1380G>A	c.(1378-1380)atG>atA	p.M460I	ZNF536_uc010edd.1_Missense_Mutation_p.M460I	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGCTGCCCATGAAGGAGAAGG	0.642000														55			15		0	0	1	0	0
DEFA4	1669	broad.mit.edu	37	8	6794376	6794376	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:6794376G>T	uc003wqu.1	-	1	97	c.46C>A	c.(46-48)Cag>Aag	p.Q16K		NM_001925	NP_001916	P12838	DEF4_HUMAN	Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.	16					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GCCCGGACCTGGAGGGCTACC	0.607000														44			7		8.12818e-05	8.13966e-05	1	1	0
VOPP1	81552	broad.mit.edu	37	7	55560108	55560108	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55560108G>A	uc003tqs.3	-	3	378	c.195C>T	c.(193-195)ttC>ttT	p.F65F	VOPP1_uc003tqq.3_Silent_p.F56F|VOPP1_uc010kzh.3_Silent_p.F62F|VOPP1_uc010kzi.3_Silent_p.F48F|VOPP1_uc011kcr.2_5'UTR	NM_030796	NP_110423	Q96AW1	VOPP1_HUMAN	Homo sapiens vesicular, overexpressed in cancer, prosurvival protein 1 (VOPP1), mRNA.	65					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						TCATCAGAAGGAACCTGAGGA	0.632000														19			5		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123021952	123021952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:123021952C>T	uc003egh.2	-	13	2674	c.2674G>A	c.(2674-2676)Gat>Aat	p.D892N	ADCY5_uc021xdd.1_Missense_Mutation_p.D542N|ADCY5_uc003egg.2_Missense_Mutation_p.D525N|ADCY5_uc003egi.1_Missense_Mutation_p.D451N	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	892					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding	p.G891G(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCCTGCTCATCGCCCAGGCTG	0.647000														40			19		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168138055	168138055	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:168138055C>T	uc010jjg.3	-	24	2984	c.2564G>A	c.(2563-2565)gGa>gAa	p.G855E	SLIT3_uc003mab.3_Missense_Mutation_p.G855E	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	855					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGGTTGGTTCCCAGCGCCCT	0.597000														11			3		0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2402289	2402289	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:2402289C>T	uc003slx.3	+	2	785	c.702C>T	c.(700-702)ttC>ttT	p.F234F	EIF3B_uc003sly.3_Silent_p.F234F|EIF3B_uc003slz.1_Silent_p.F195F|EIF3B_uc003sma.3_5'UTR	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	234	RRM.|Sufficient for interaction with EIF3E.|Sufficient for interaction with EIF3J.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGTATATTTTCCTGGAGTACG	0.587000														48			22		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158614085	158614085	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158614085C>T	uc001fst.1	-	29	4495	c.4296G>A	c.(4294-4296)ttG>ttA	p.L1432L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1432					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTTCTTCATCAAAGCCTCCA	0.413000														64			31		0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1441598	1441598	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1441598G>A	uc003jck.3	-	2	420	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	98					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGGGGACCAGGAAGGCACCTG	0.597000														36			13		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039162	184039162	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:184039162C>T	uc003fnp.3	+	9	1061	c.790C>T	c.(790-792)Ccg>Tcg	p.P264S	EIF4G1_uc003fno.2_Missense_Mutation_p.P205S|EIF4G1_uc010hxw.2_Missense_Mutation_p.P100S|EIF4G1_uc010hxx.3_Missense_Mutation_p.P271S|EIF4G1_uc003fnt.3_5'UTR|EIF4G1_uc010hxy.3_Missense_Mutation_p.P271S|EIF4G1_uc003fnq.3_Missense_Mutation_p.P177S|EIF4G1_uc003fnr.3_Missense_Mutation_p.P100S|EIF4G1_uc003fns.3_Missense_Mutation_p.P224S|EIF4G1_uc003fnv.4_Missense_Mutation_p.P264S|EIF4G1_uc003fnw.3_Missense_Mutation_p.P271S|EIF4G1_uc003fnx.3_Missense_Mutation_p.P68S	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	264					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTCGCCTTCTCCGACCCCATC	0.567000														86			29		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160789114	160789114	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160789114C>T	uc001fwu.3	+	6	1498	c.1448C>T	c.(1447-1449)tCa>tTa	p.S483L	LY9_uc001fwv.3_Missense_Mutation_p.S483L|LY9_uc001fww.3_Missense_Mutation_p.S393L|LY9_uc001fwy.1_Missense_Mutation_p.S295L|LY9_uc001fwz.3_Missense_Mutation_p.S135L	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	483					cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.S483*(2)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTCTCAGGTTCAGTCCCAGCC	0.493000														89			41		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107430033	107430033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107430033G>A	uc003ver.2	-	5	882	c.671C>T	c.(670-672)tCc>tTc	p.S224F	SLC26A3_uc003ves.2_Missense_Mutation_p.S189F	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	224					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTTGAGTTGGGAAACCAAAAC	0.393000														44			4		0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39374734	39374734	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:39374734G>A	uc010hhr.2	+	1	1050	c.912G>A	c.(910-912)ggG>ggA	p.G304G	CCR8_uc003cjm.2_Silent_p.G221G|CCR8_uc021wwe.1_Silent_p.G304G	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	304					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CTTTTGTTGGGGAGAAGTTCA	0.418000														83			38		0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150739141	150739141	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150739141G>A	uc003wil.4	+	14	1855	c.1762G>A	c.(1762-1764)Gcg>Acg	p.A588T	ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.3_Missense_Mutation_p.A571T|ABCB8_uc011kvd.2_Missense_Mutation_p.A483T|ABCB8_uc003wim.4_Missense_Mutation_p.A366T|ABCB8_uc003wik.4_Missense_Mutation_p.A571T	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA.	588	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCCGGGAAGCGAATGCTCA	0.612000														52			42		0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181420	128181420	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:128181420C>T	uc003ekk.1	-	2	2330	c.669G>A	c.(667-669)aaG>aaA	p.K223K	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Silent_p.K223K	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	223					protein folding		heat shock protein binding|unfolded protein binding	p.G222S(1)		kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TGAGCTGCTCCTTGCCGTTCA	0.642000														101			53		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326923	57326923	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57326923G>A	uc002qnu.2	-	6	3238	c.2887C>T	c.(2887-2889)Cgc>Tgc	p.R963C	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R934C|PEG3_uc002qnv.2_Missense_Mutation_p.R963C|PEG3_uc002qnw.2_Missense_Mutation_p.R839C|PEG3_uc002qnx.2_Missense_Mutation_p.R837C|PEG3_uc010etr.2_Missense_Mutation_p.R963C	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	963					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R963C(3)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTCGAGGGCGAAATGTTTGT	0.473000														163			60		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640122	179640122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179640122C>T	uc021vsy.1	-	27	6694	c.6469G>A	c.(6469-6471)Gct>Act	p.A2157T	TTN_uc021vsz.1_Missense_Mutation_p.A2111T|TTN_uc021vta.1_Missense_Mutation_p.A2111T|TTN_uc021vtb.1_Missense_Mutation_p.A2111T|TTN_uc002unb.2_Missense_Mutation_p.A2157T|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2157	Ig-like 10.						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)			GTTTCTCCAGCTATGTTGATG	0.433000														73			18		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280440	32280440	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32280440C>T	uc001bts.1	-	1	553	c.495G>A	c.(493-495)agG>agA	p.R165R	SPOCD1_uc001btu.3_Silent_p.R165R|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	165					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTCTGGCCTCCCTGGGCCTGA	0.617000														78			48		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52250002	52250002	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52250002C>T	uc021uyn.1	-	2	392	c.246G>A	c.(244-246)atG>atA	p.M82I	FPR1_uc002pxq.3_Missense_Mutation_p.M82I|FPR1_uc021uyo.1_Missense_Mutation_p.M82I	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	82					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)	CCTTCCTGACCATGAAGAATG	0.517000														91			15		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579753	44579753	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44579753G>A	uc003tlb.3	-	1	299	c.243C>T	c.(241-243)ctC>ctT	p.L81L	NPC1L1_uc011kbw.2_Silent_p.L81L|NPC1L1_uc003tlc.3_Silent_p.L81L|NPC1L1_uc003tld.3_Silent_p.L81L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	81					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)	GGCCGGTGTAGAGGCGGGGGC	0.612000														31			12		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92346066	92346066	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:92346066G>A	uc010tif.2	+	2	1317	c.951G>A	c.(949-951)ctG>ctA	p.L317L		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	317						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ACGTGCTGCTGAACTTTCACT	0.453000														111			32		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6065875	6065875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:6065875C>T	uc002wmr.3	-	11	2220	c.1431G>A	c.(1429-1431)atG>atA	p.M477I	FERMT1_uc002wmq.3_Missense_Mutation_p.M30I|FERMT1_uc010gbt.3_Missense_Mutation_p.M220I	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	477	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AGCTGTCTGCCATGGTTTTGC	0.493000														64			17		0	0	1	0	0
UBE2D3	7323	broad.mit.edu	37	4	103730987	103730987	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:103730987G>A	uc003hwk.3	-	2	511	c.50C>T	c.(49-51)cCt>cTt	p.P17L	UBE2D3_uc003hwi.3_Missense_Mutation_p.P17L|UBE2D3_uc003hwl.3_Missense_Mutation_p.P17L|UBE2D3_uc011cet.2_Missense_Mutation_p.P17L|UBE2D3_uc011ceu.2_Missense_Mutation_p.P17L|UBE2D3_uc003hwo.3_Missense_Mutation_p.P17L|UBE2D3_uc003hwp.3_Missense_Mutation_p.P17L|UBE2D3_uc003hwq.3_Missense_Mutation_p.P19L|UBE2D3_uc003hwr.3_Missense_Mutation_p.P17L	NM_181887	NP_871620	P61077	UB2D3_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2D 3 (UBE2D3), transcript variant 3, mRNA.	17					BMP signaling pathway|DNA repair|apoptosis|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity	p.R17S(1)		kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		TTGTGCTGGAGGGTCACGGGC	0.383000														109			47		0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169663768	169663768	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:169663768C>T	uc011bpp.2	-	1		c.4035G>A								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		TGGCCAGATTCACAGAGCATT	0.498000														152			12		0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105252524	105252525	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:105252524_105252525CC>TT	uc003dvx.3	+	4	1233_1234	c.537_538CC>TT	c.(535-540)cccctt>ccTTtt	p.L180F	ALCAM_uc003dvw.2_Missense_Mutation_p.L180F|ALCAM_uc003dvy.3_Missense_Mutation_p.L180F|ALCAM_uc011bhh.1_Missense_Mutation_p.L129F|ALCAM_uc010hpp.3_5'UTR	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	180	Ig-like V-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.P179H(1)|p.P179L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGCTACATCCCCTTGAAGGAGG	0.446000														90			29		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9321515	9321515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:9321515G>A	uc001qvl.3	-	16	2086	c.2057C>T	c.(2056-2058)tCa>tTa	p.S686L	PZP_uc009zgl.3_Missense_Mutation_p.S555L|PZP_uc010sgo.1_5'Flank|PZP_uc009zgm.1_Missense_Mutation_p.S18L	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGGGATGACTGAACACGACTT	0.368000														86			36		0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21652496	21652496	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21652496G>A	uc001rex.3	-	2	357	c.9C>T	c.(7-9)tcC>tcT	p.S3S	RECQL_uc001rey.3_Silent_p.S3S|GOLT1B_uc001rez.2_5'Flank|GOLT1B_uc009zis.2_5'Flank|GOLT1B_uc009zit.2_5'Flank|GOLT1B_uc009ziu.2_5'Flank	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	3					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						AACCTGAAACGGACGCCATTC	0.264000								Other identified genes with known or suspected DNA repair function						77			25		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50464873	50464873	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:50464873C>T	uc001vdk.2	+	0	329	c.147C>T	c.(145-147)gtC>gtT	p.V49V						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		GTGCAGCTGTCCTTGGATTTG	0.488000														30			15		0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52146630	52146630	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52146630C>T	uc002pxf.4	-	6	1289	c.1169G>A	c.(1168-1170)aGc>aAc	p.S390N		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	390					cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		CTCAGCCCTGCTCTGCTGGGG	0.607000														62			6		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103471420	103471421	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:103471420_103471421CC>TT	uc001dum.3	-	17	2172_2173	c.1854_1855GG>AA	c.(1852-1857)ccgggt>ccAAgt	p.G619S	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.G607S|COL11A1_uc001dun.3_Missense_Mutation_p.G568S|COL11A1_uc009weh.3_Missense_Mutation_p.G491S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	607	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	p.P618P(4)|p.P606P(2)		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)		CCTGGCAGACCCGGAAGTCCAT	0.361000														123			23		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38813452	38813452	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38813452G>A	uc021yzh.1	+	35	5057	c.4948G>A	c.(4948-4950)Gga>Aga	p.G1650R	DNAH8_uc003ooe.2_Missense_Mutation_p.G1433R	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGCATTTAAGGGAAAAGGAGA	0.418000														126			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179456479	179456479	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179456479C>T	uc021vsy.1	-	251	52588	c.52363G>A	c.(52363-52365)Gac>Aac	p.D17455N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D11150N|TTN_uc021vta.1_Missense_Mutation_p.D11083N|TTN_uc021vtb.1_Missense_Mutation_p.D10958N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18382	Ig-like 103.						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)			TTAATCCAGTCCTGGGTGCCT	0.413000														99			39		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71025259	71025259	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71025259C>A	uc002ezr.3	-	24	3977	c.3826G>T	c.(3826-3828)Gaa>Taa	p.E1276*		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1276								p.E1276*(1)|p.E1228*(1)		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)				TTTCTTAGTTCTTTTTCTTCA	0.473000														78			32		4.34311e-12	4.36109e-12	1	1	0
ATPBD4	89978	broad.mit.edu	37	15	35742927	35742927	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:35742927G>A	uc001zja.3	-	4	526	c.464C>T	c.(463-465)tCa>tTa	p.S155L		NM_080650	NP_542381	Q7L8W6	ATBD4_HUMAN	Homo sapiens ATP binding domain 4 (ATPBD4), transcript variant 1, mRNA.	155										endometrium(1)|kidney(1)|lung(9)	11		all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07)		all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		AATGTTAGATGATATCATCTC	0.388000														85			32		0	0	1	0	0
C10orf76	79591	broad.mit.edu	37	10	103755098	103755098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:103755098G>A	uc009xwy.1	-	15	1267	c.1165C>T	c.(1165-1167)Cac>Tac	p.H389Y		NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.	389						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TTGCCACTGTGAAGCCTGTGT	0.378000														152			14		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24834974	24834974	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:24834974C>T	uc001iru.4	+	20	5956	c.5553C>T	c.(5551-5553)gcC>gcT	p.A1851A	KIAA1217_uc001irs.3_Silent_p.A1172A|KIAA1217_uc001irt.4_Silent_p.A1217A|KIAA1217_uc010qcy.2_Silent_p.A1282A|KIAA1217_uc010qcz.2_Silent_p.A1257A|KIAA1217_uc001irw.3_3'UTR|KIAA1217_uc001irz.3_3'UTR|KIAA1217_uc001irx.3_3'UTR|KIAA1217_uc001iry.3_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1851	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCACTCTGCCTCCCTCATCC	0.493000														144			29		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79290481	79290481	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:79290481C>T	uc002beq.3	-	19	3346	c.2971G>A	c.(2971-2973)Gag>Aag	p.E991K	RASGRF1_uc002bep.3_Missense_Mutation_p.E975K|RASGRF1_uc010blm.1_Missense_Mutation_p.E900K|RASGRF1_uc002ber.4_Missense_Mutation_p.E975K|RASGRF1_uc010unh.1_Missense_Mutation_p.E386K|RASGRF1_uc002beo.3_Missense_Mutation_p.E207K	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	993					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTCAGGAGCTCCGGGTCGTGC	0.587000														150			29		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3321352	3321352	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3321352G>A	uc001akf.3	+	6	1016	c.934G>A	c.(934-936)Gac>Aac	p.D312N	PRDM16_uc001ake.3_Missense_Mutation_p.D312N|PRDM16_uc009vlh.3_Missense_Mutation_p.D13N|PRDM16_uc001akc.3_Missense_Mutation_p.D312N	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	312					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GTACAAATGCGACCAGTGTCC	0.607000			T	EVI1	"""MDS, AML"""									48			28		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6711049	6711049	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6711049G>A	uc002mfm.3	-	11	1490	c.1428C>T	c.(1426-1428)ctC>ctT	p.L476L		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	476					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCATTCGCAGGAGGAAGTTGA	0.597000														187			41		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13793685	13793685	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13793685C>T	uc003jfd.2	-	48	8205	c.8163G>A	c.(8161-8163)aaG>aaA	p.K2721K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2721	AAA 3 (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)					AGAACTGCCTCTTGAGTCTTT	0.498000									Kartagener syndrome					123			50		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11725780	11725780	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11725780G>A	uc002gne.3	+	46	8944	c.8876G>A	c.(8875-8877)gGa>gAa	p.G2959E	DNAH9_uc010coo.3_Missense_Mutation_p.G2253E	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2959	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCCCTGTGGGAAACAAGCTA	0.542000														89			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583227	179583227	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179583227C>T	uc021vsy.1	-	81	21099	c.20874G>A	c.(20872-20874)gtG>gtA	p.V6958V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V3619V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7885	Ig-like 51.						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)			TTATCCAGCTCACTGAGATTG	0.428000														58			8		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768152	77768152	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:77768152C>T	uc003yau.2	+	9	9382	c.8995C>T	c.(8995-8997)Caa>Taa	p.Q2999*	ZFHX4_uc003yaw.1_Nonsense_Mutation_p.Q2954*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2954						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)			CATGATCAATCAAGGCGGAAC	0.473000										HNSCC(33;0.089)				15			7		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130282158	130282158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130282158C>T	uc010htl.3	+	1	342	c.311C>T	c.(310-312)tCc>tTc	p.S104F		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	104	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATTGGCGGGTCCCTGCAGATA	0.493000														39			9		0	0	1	0	0
GNGT2	2793	broad.mit.edu	37	17	47284190	47284190	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:47284190C>T	uc002ioo.2	-	3	446	c.139G>A	c.(139-141)Gat>Aat	p.D47N	GNGT2_uc021tzo.1_Missense_Mutation_p.D47N|GNGT2_uc021tzp.1_Missense_Mutation_p.D47N|GNGT2_uc021tzq.1_Missense_Mutation_p.D47N	NM_031498	NP_113686	O14610	GBGT2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 (GNGT2), transcript variant 1, mRNA.	47					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			AGAAAAGGATCGTTTCCTGCT	0.488000														90			28		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126219633	126219633	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:126219633G>A	uc010hsi.2	-	11	1284	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	UROC1_uc003eiz.2_Silent_p.F350F	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	350					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AGCCGCCATTGAACGGGTTGT	0.617000														79			37		0	0	1	0	0
PLEK2	26499	broad.mit.edu	37	14	67864445	67864445	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:67864445G>A	uc001xjh.1	-	1	193	c.141C>T	c.(139-141)ccC>ccT	p.P47P		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	Homo sapiens pleckstrin 2 (PLEK2), mRNA.	47	PH 1.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		TCCGGCCCTTGGGAGGGGTCA	0.602000														25			8		0	0	1	0	0
LCE1E	353135	broad.mit.edu	37	1	152760099	152760099	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152760099G>A	uc021ozg.1	+	0	324	c.324G>A	c.(322-324)ggG>ggA	p.G108G	LCE1E_uc001fan.3_Silent_p.G108G	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	Homo sapiens late cornified envelope 1E (LCE1E), mRNA.	108	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGAGGGGGCAGCGGCC	0.617000														130			43		0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748346	68748346	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:68748346G>A	uc010rqf.2	-	0	110	c.110C>T	c.(109-111)aCc>aTc	p.T37I		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	37						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCACAGGCAGGTGAACATGGC	0.572000														52			27		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79434665	79434665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:79434665G>A	uc001xun.3	+	10	2490	c.1999G>A	c.(1999-2001)Gga>Aga	p.G667R	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.G792R	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane		p.S666S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCATCGGAGCGGACAGATCGA	0.522000														52			23		0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1371776	1371776	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:1371776G>A	uc002fsp.3	-	25	2845	c.2625C>T	c.(2623-2625)gcC>gcT	p.A875A	MYO1C_uc002fsn.3_Silent_p.A856A|MYO1C_uc002fso.3_Silent_p.A840A|MYO1C_uc010vqj.1_Silent_p.A840A	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	875					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			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)		CACTAGCCACGGCCTTCTGCT	0.587000														26			19		0	0	1	0	0
EPN3	55040	broad.mit.edu	37	17	48613885	48613885	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48613885G>A	uc010wms.2	+	1	403	c.215G>A	c.(214-216)gGg>gAg	p.G72E	EPN3_uc002ira.4_5'UTR|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_5'UTR			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	208	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCTCCGGCGGGGGCGAGGGCC	0.622000														61			21		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60814350	60814350	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:60814350C>T	uc010dds.3	-	6	1278	c.993G>A	c.(991-993)gaG>gaA	p.E331E	MARCH10_uc010ddr.3_Silent_p.E293E|MARCH10_uc002jag.4_Silent_p.E293E|MARCH10_uc002jah.2_Silent_p.E292E|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	293							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ACTGGGTTTCCTCTTCAGTGT	0.478000														431			37		0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64570110	64570110	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64570110G>A	uc001obh.3	-	2	262	c.170C>T	c.(169-171)tCc>tTc	p.S57F	MAP4K2_uc001obi.3_Missense_Mutation_p.S57F|MAP4K2_uc010rnp.1_Missense_Mutation_p.S57F	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	57	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	Golgi membrane|basolateral plasma membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CTGCTGGAGGGAGCTGATGTC	0.612000														28			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725003	140725003	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140725003G>A	uc003ljm.2	+	0	1403	c.1403G>A	c.(1402-1404)gGa>gAa	p.G468E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.G468E	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	470	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G468E(1)		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)			AACCCCAGAGGAGCCTCCATC	0.537000														245			33		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43936011	43936011	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:43936011G>A	uc003bdy.2	-	27	4189	c.3875C>T	c.(3874-3876)cCc>cTc	p.P1292L	EFCAB6_uc003bdz.2_Missense_Mutation_p.P1140L|EFCAB6_uc010gzi.2_Missense_Mutation_p.P1140L	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ACTCACACAGGGGTGGCTCTG	0.612000														57			12		0	0	1	0	0
MEF2A	4205	broad.mit.edu	37	15	100214787	100214787	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:100214787C>T	uc010urw.2	+	4	945	c.586C>T	c.(586-588)Cct>Tct	p.P196S	MEF2A_uc002bve.3_Missense_Mutation_p.P194S|MEF2A_uc002bvg.3_Missense_Mutation_p.P194S|MEF2A_uc010urv.2_Missense_Mutation_p.P126S|MEF2A_uc010bos.3_Missense_Mutation_p.P194S|MEF2A_uc002bvf.3_Missense_Mutation_p.P196S|MEF2A_uc002bvi.3_Missense_Mutation_p.P194S|MEF2A_uc010bot.3_Missense_Mutation_p.P126S	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant 1, mRNA.	196					BMK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|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|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	RNA polymerase II regulatory region sequence-specific DNA binding|SMAD binding|activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.P196S(3)|p.P194S(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TCCTGGAGCTCCTCAGAGACC	0.433000														182			14		0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46306722	46306722	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46306722G>A	uc003cpl.2	+	2	1203	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	CCR3_uc003cpg.2_Missense_Mutation_p.E25K|CCR3_uc003cpk.2_Missense_Mutation_p.E46K|CCR3_uc003cpi.2_Missense_Mutation_p.E25K|CCR3_uc010hjb.2_Missense_Mutation_p.E43K|CCR3_uc003cpj.2_Missense_Mutation_p.E25K|CCR3_uc021wwz.1_Missense_Mutation_p.E25K	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	25					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CCTGCTCTGTGAAAAAGCTGA	0.502000														41			17		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337746	19337746	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19337746C>T	uc002nlz.3	+	6	1623	c.1524C>T	c.(1522-1524)gcC>gcT	p.A508A	NCAN_uc010ecc.1_Silent_p.A72A	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	508					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGGCCAGCGCCCAGCCCCCCA	0.652000														28			17		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123887120	123887120	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123887120C>T	uc010sac.2	+	0	839	c.839C>T	c.(838-840)cCc>cTc	p.P280L		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T279M(2)|p.T279T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGCTGACGCCCCTTCTCAAC	0.463000														89			22		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501772	90501772	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90501772C>T	uc004app.4	+	3	2405	c.2370C>T	c.(2368-2370)ctC>ctT	p.L790L	FAM75E1_uc004apo.1_Silent_p.L602L	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	790						integral to membrane											GCTCCTGGCTCATGGCCAAAT	0.577000														65			6		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52591936	52591937	+	Missense_Mutation	DNP	CC	TT	TT	rs139421363		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:52591936_52591937CC>TT	uc002xws.2	-	7	1511_1512	c.1173_1174GG>AA	c.(1171-1176)gcggag>gcAAag	p.E392K	BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Missense_Mutation_p.E340K|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Intron|BCAS1_uc010gil.1_Missense_Mutation_p.E392K	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	392						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ACATTCTCCTCCGCACCTGTGG	0.411000														33			11		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526084	189526084	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:189526084C>T	uc003fry.2	+	3	437	c.348C>T	c.(346-348)ctC>ctT	p.L116L	TP63_uc003frx.2_Silent_p.L116L|TP63_uc003frz.2_Silent_p.L116L|TP63_uc010hzc.1_Silent_p.L116L|TP63_uc003fsa.2_Silent_p.L22L|TP63_uc003fsb.2_Silent_p.L22L|TP63_uc003fsc.2_Silent_p.L22L|TP63_uc003fsd.2_Silent_p.L22L|TP63_uc021xir.1_Silent_p.L22L|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_5'UTR	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	116					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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCTGGGGCTCCTGAACAGCA	0.572000										HNSCC(45;0.13)				82			39		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56388020	56388020	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56388020G>A	uc002ivx.4	-	19	4423	c.3552C>T	c.(3550-3552)ccC>ccT	p.P1184P	BZRAP1_uc010dcs.3_Silent_p.P1124P|BZRAP1_uc010wnt.2_Silent_p.P1184P	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1184						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGCCAGTGAGGGAGCTGCGG	0.672000														24			8		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981225	7981225	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7981225C>T	uc001mfv.1	-	1	1951	c.1934G>A	c.(1933-1935)gGg>gAg	p.G645E		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	645							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCCTCTGTCCCTCTGCCTTT	0.383000														41			13		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1993972	1993972	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:1993972C>T	uc021qsx.1	-	10	1465	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.E331K	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	412	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AACACCGGCTCGTAGTCCTCC	0.567000														21			8		0	0	1	0	0
C12orf36	283422	broad.mit.edu	37	12	13529186	13529186	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:13529186G>A	uc001rbs.2	-	1	406	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L						Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA.											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		cctccAAGCAGGTCAGAGAAC	0.498000														77			20		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109318451	109318451	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:109318451C>T	uc010agk.2	+	1	868	c.246C>T	c.(244-246)ctC>ctT	p.L82L	MYO16_uc001vqt.1_Silent_p.L60L	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	60					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACTTCAACCTCACGGACATGC	0.433000														24			8		0	0	1	0	0
HAUS7	55559	broad.mit.edu	37	X	152728076	152728076	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:152728076G>A	uc004fhn.2	-	3	934	c.376C>T	c.(376-378)Ctc>Ttc	p.L126F	HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript|HAUS7_uc004fho.2_Missense_Mutation_p.L126F|HAUS7_uc004fhp.2_Non-coding_Transcript|HAUS7_uc011myq.1_Non-coding_Transcript	NM_017518	NP_059988	Q99871	HAUS7_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 7 (HAUS7), mRNA.	126					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						ACCTTGAGGAGCTCCTGGTCA	0.587000														12			12		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79069905	79069905	+	Missense_Mutation	SNP	C	T	T	rs148218299	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:79069905C>T	uc002bej.4	-	8	1559	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.D450N	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	450	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCAGGAGGGTCGTCCAGGCAC	0.652000														7			14		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28467325	28467325	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:28467325G>A	uc001zbj.3	-	35	5607	c.5501C>T	c.(5500-5502)gCt>gTt	p.A1834V		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1834					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.N1833K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTGAGCAGAAGCATTCATATC	0.493000														57			16		0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35450246	35450246	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35450246G>A	uc002nxh.1	-	3	900	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGTTTGCACTGAACTCAGAGC	0.507000														219			122		0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6433541	6433541	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6433541C>T	uc010dus.3	-	0	250	c.164G>A	c.(163-165)gGc>gAc	p.G55D	SLC25A41_uc010dut.3_5'UTR	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	Homo sapiens solute carrier family 25, member 41 (SLC25A41), mRNA.	55					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						ATGCATGTGGCCAAACGCGTA	0.582000														74			23		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88300912	88300912	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:88300912G>A	uc001pcq.3	-	6	2139	c.1939C>T	c.(1939-1941)Cag>Tag	p.Q647*	GRM5_uc009yvm.3_Nonsense_Mutation_p.Q647*	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	647					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CCAATTCTCTGAAGGTAGCAG	0.493000														33			5		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56373451	56373451	+	Silent	SNP	G	A	A	rs148970920		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56373451G>A	uc002qmd.4	+	4	2534	c.2112G>A	c.(2110-2112)acG>acA	p.T704T	NLRP4_uc002qmf.3_Silent_p.T629T|NLRP4_uc010etf.3_Silent_p.T535T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	704							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCACCCTCACGAAACTCTCTC	0.463000														94			45		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332700	70332700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70332700C>T	uc001oqc.3	-	20	3612	c.3500G>A	c.(3499-3501)gGa>gAa	p.G1167E	SHANK2_uc010rqn.2_Missense_Mutation_p.G643E|SHANK2_uc001opz.3_Missense_Mutation_p.G638E|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	854					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCCTTTGGGTCCCTGTTGAGA	0.607000														79			50		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648595	41648595	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:41648595C>T	uc003gvz.4	+	16	2922	c.2505C>T	c.(2503-2505)ttC>ttT	p.F835F	LIMCH1_uc003gwe.4_Silent_p.F450F|LIMCH1_uc003gvu.4_Silent_p.F450F|LIMCH1_uc003gvv.4_Silent_p.F450F|LIMCH1_uc003gvw.4_Silent_p.F450F|LIMCH1_uc003gvx.4_Silent_p.F438F|LIMCH1_uc003gvy.4_Silent_p.F279F|LIMCH1_uc003gwa.4_Silent_p.F291F|LIMCH1_uc011byu.2_Silent_p.F284F|LIMCH1_uc003gwc.4_Silent_p.F296F|LIMCH1_uc003gwd.4_Silent_p.F284F|LIMCH1_uc011byv.2_Silent_p.F201F	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	450					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTGAGAGGTTCACCATCAGTG	0.493000														182			54		0	0	1	0	0
ARL5B	221079	broad.mit.edu	37	10	18964126	18964126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:18964126C>T	uc001iqd.1	+	5	775	c.521C>T	c.(520-522)tCc>tTc	p.S174F	AK022915_uc001iqe.3_5'Flank	NM_178815	NP_848930	Q96KC2	ARL5B_HUMAN	Homo sapiens ADP-ribosylation factor-like 5B (ARL5B), mRNA.	174					small GTPase mediated signal transduction	intracellular	GTP binding			lung(1)|ovary(1)	2						TGGATGACCTCCCGGATTGGT	0.343000														84			11		0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58125676	58125676	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58125676G>A	uc010rke.2	-	0	867	c.867C>T	c.(865-867)acC>acT	p.T289T		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGTTCCTCAGGGTATAGACTA	0.388000														136			63		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756783	71756783	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:71756783G>A	uc003kce.1	-	1	727	c.541C>T	c.(541-543)Cac>Tac	p.H181Y		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGGCCCGGGTGGACTTTGGGG	0.662000														118			46		0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74825629	74825629	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:74825629C>T	uc004air.3	+	3	620	c.411C>T	c.(409-411)acC>acT	p.T137T	GDA_uc011lse.2_Silent_p.T63T|GDA_uc004aiq.3_Silent_p.T137T|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Silent_p.T63T|GDA_uc004ais.3_Silent_p.T95T|GDA_uc004ait.1_Silent_p.T63T	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	137					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ATGGAACAACCACAGCTTGTT	0.418000														51			11		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17668547	17668547	+	Silent	SNP	C	T	T	rs138788718	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17668547C>T	uc001baj.2	+	6	790	c.762C>T	c.(760-762)ctC>ctT	p.L254L	PADI4_uc009vpc.2_Silent_p.L254L	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	254					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TGGAGGCCCTCGCTTTCCCGG	0.617000														54			21		0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3850757	3850757	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3850757G>A	uc002fwy.2	-	7	1196	c.1023C>T	c.(1021-1023)acC>acT	p.T341T	ATP2A3_uc002fwz.2_Silent_p.T341T|ATP2A3_uc002fxa.2_Silent_p.T341T|ATP2A3_uc002fxb.2_Silent_p.T341T|ATP2A3_uc002fxc.2_Silent_p.T341T|ATP2A3_uc002fxd.2_Silent_p.T341T|ATP2A3_uc002fwx.2_Silent_p.T341T	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	341					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TGCAGCCCAGGGTCTCCACGG	0.647000														43			33		0	0	1	0	0
SPACA1	81833	broad.mit.edu	37	6	88769219	88769219	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:88769219G>A	uc003pmn.3	+	4	640	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	175						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		AGTACGCAAGGAAAGTCACCC	0.343000														44			9		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52604151	52604151	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:52604151T>A	uc002lfs.3	-	5	556	c.384A>T	c.(382-384)agA>agT	p.R128S	CCDC68_uc002lft.3_Missense_Mutation_p.R128S	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	128								p.L127L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GGGCCACGTTTCTCAGAGCTG	0.428000														82			9		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2416007	2416007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:2416007G>A	uc001aji.1	+	4	1037	c.763G>A	c.(763-765)Gac>Aac	p.D255N	PLCH2_uc010nyz.2_Missense_Mutation_p.D44N|PLCH2_uc009vle.1_Missense_Mutation_p.D44N|PLCH2_uc001ajj.1_Missense_Mutation_p.D44N|PLCH2_uc001ajk.1_Missense_Mutation_p.D44N	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	256					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			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)		CAACCACAAGGACCACCTGGA	0.622000														44			17		0	0	1	0	0
LHFPL3	375612	broad.mit.edu	37	7	104377342	104377342	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:104377342G>A	uc003vce.3	+	1	790	c.666G>A	c.(664-666)ctG>ctA	p.L222L	LHFPL3_uc003vcf.3_Silent_p.L222L	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 3 (LHFPL3), mRNA.	208						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						CAGAGGAACTGAAGGCAGAAA	0.418000														12			6		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84553916	84553916	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:84553916C>T	uc002bjz.4	+	9	1248	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.Q342*	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	342						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CATCAGTCATCAGTGGAGACA	0.468000														48			12		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200971323	200971323	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:200971323C>T	uc001gvs.2	-	8	1685	c.1368G>A	c.(1366-1368)atG>atA	p.M456I	KIF21B_uc009wzl.2_Missense_Mutation_p.M456I|KIF21B_uc001gvr.2_Missense_Mutation_p.M456I|KIF21B_uc010ppn.2_Missense_Mutation_p.M456I|KIF21B_uc001gvt.1_3'UTR	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	456					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCTCCTGGCTCATGAGCTGGG	0.627000														58			27		0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135487526	135487526	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135487526G>A	uc004cbq.1	-	18	2409	c.2257C>T	c.(2257-2259)Ccc>Tcc	p.P753S	DDX31_uc010mzu.1_Missense_Mutation_p.P680S	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	753						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		AGATTCCTGGGGGCATCTCTT	0.552000														131			32		0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182822450	182822450	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:182822450C>T	uc001gpr.3	+	4	549	c.374C>T	c.(373-375)tCt>tTt	p.S125F	DHX9_uc001gps.3_5'UTR	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	125	Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GAAAATAATTCTGAGGTAGGG	0.393000														75			28		0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16740853	16740853	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:16740853C>T	uc010exm.2	-	9	859	c.711_splice	c.e9-1	p.P237_splice	FAM49A_uc002rck.2_Splice_Site_p.P237_splice	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	237						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CTTCTGTACTCCCTGCAAGAG	0.502000														82			28		0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5014844	5014844	+	Missense_Mutation	SNP	G	A	A	rs140396306		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:5014844G>A	uc001iho.3	+	11	1590	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	AKR1C3_uc001ihr.3_Intron|AKR1C3_uc001ihq.3_Missense_Mutation_p.R250Q	NM_001353	NP_001344	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1), mRNA.	250					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	AAGCACAAGCGAACCCCAGCC	0.597000														127			31		0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379287	114379287	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:114379287G>A	uc003pwg.4	-	1	207	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Missense_Mutation_p.R59C	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	59					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	p.R59H(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TGCAGGGCGCGAAGTGGGAAT	0.577000														20			12		0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23817804	23817804	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23817804G>A	uc001wjl.3	-	3	840	c.603C>T	c.(601-603)ttC>ttT	p.F201F	SLC22A17_uc010akk.3_Intron|SLC22A17_uc001wjm.3_Silent_p.F201F|SLC22A17_uc001wjn.3_Intron	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	201					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCAGGAACAGGAAGTGCCCTC	0.597000														124			30		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76573658	76573658	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:76573658C>T	uc002fex.1	+	18	3411	c.3272C>T	c.(3271-3273)cCt>cTt	p.P1091L	CNTNAP4_uc002feu.1_Missense_Mutation_p.P1087L|CNTNAP4_uc002fev.1_Missense_Mutation_p.P952L|CNTNAP4_uc010chb.1_Missense_Mutation_p.P1015L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1088	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TATCAAGAGCCTGATGTTGTT	0.348000														50			14		0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	74005167	74005167	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:74005167C>T	uc003uaq.3	+	23	2850	c.2457C>T	c.(2455-2457)ggC>ggT	p.G819G	GTF2IRD1_uc010lbq.3_Silent_p.G836G|GTF2IRD1_uc003uap.3_Silent_p.G804G|GTF2IRD1_uc003uar.1_Silent_p.G804G	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	819						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGGCCCTGGGCCTGAACCGGC	0.607000														29			16		0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101598755	101598755	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:101598755C>T	uc010yvt.1	+	15	1742	c.1740C>T	c.(1738-1740)atC>atT	p.I580I	NPAS2_uc002tap.1_Silent_p.I515I|NPAS2_uc010fit.1_Silent_p.I93I	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	515					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.G580R(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGACGCGGATCCTGCAGGCCA	0.547000														53			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9009648	9009648	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9009648C>T	uc002mkp.3	-	38	39282	c.39078G>A	c.(39076-39078)gaG>gaA	p.E13026E	MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13028	SEA 7.				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						GACGCATGTCCTCCCCATACT	0.542000														124			57		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160100247	160100247	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160100247C>T	uc001fvc.3	+	12	1819	c.1687C>T	c.(1687-1689)Cct>Tct	p.P563S	ATP1A2_uc001fvb.2_Missense_Mutation_p.P563S|ATP1A2_uc001fvd.3_Missense_Mutation_p.P299S|ATP1A2_uc009wtg.1_Missense_Mutation_p.P251S	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	563					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGAAAGTTTCCTCGGGGCTT	0.552000														82			9		0	0	1	0	0
PIGK	10026	broad.mit.edu	37	1	77620246	77620246	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:77620246G>A	uc001dhk.3	-	8	919	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	PIGK_uc010orj.2_Nonsense_Mutation_p.Q216*|PIGK_uc009wbx.3_Nonsense_Mutation_p.Q198*|PIGK_uc001dhl.1_Nonsense_Mutation_p.Q292*	NM_005482	NP_005473	Q92643	GPI8_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class K (PIGK), mRNA.	292					C-terminal protein lipidation|attachment of GPI anchor to protein|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	GPI-anchor transamidase activity|cysteine-type endopeptidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						GGATCCCTCTGAAAAAGATCA	0.358000														61			19		0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183097158	183097158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183097158C>T	uc003fli.1	-	2	292	c.202G>A	c.(202-204)Gag>Aag	p.E68K	MCF2L2_uc003flj.1_Missense_Mutation_p.E68K|MCF2L2_uc003flp.1_Missense_Mutation_p.E103K	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	68	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCCGAAAACTCTGGGAACGTG	0.532000														26			12		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37346323	37346323	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:37346323G>A	uc001caz.2	-	2	597	c.462C>T	c.(460-462)ccC>ccT	p.P154P	GRIK3_uc001cba.1_Silent_p.P154P	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	154					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGGCGTAGTCGGGGTAGAGGT	0.607000														118			48		0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205549800	205549800	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205549800C>T	uc001hcv.4	+	2	527	c.441C>T	c.(439-441)ttC>ttT	p.F147F	MFSD4_uc010prk.2_Intron|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.F92F	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	147					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TGCTCCATTTCTTCGTGGGCT	0.637000														168			15		0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154411258	154411258	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:154411258C>T	uc011efe.2	+	3	1390	c.867C>T	c.(865-867)ctC>ctT	p.L289L	OPRM1_uc011efb.2_Silent_p.L244L|OPRM1_uc011efd.2_Silent_p.L96L|OPRM1_uc011efc.1_Silent_p.L115L|OPRM1_uc003qpn.2_Silent_p.L196L|OPRM1_uc003qpo.1_Silent_p.L196L|OPRM1_uc011eff.1_Silent_p.L196L|OPRM1_uc011efg.1_Silent_p.L196L|OPRM1_uc011efi.2_Silent_p.L196L|OPRM1_uc011efh.1_Silent_p.L196L|OPRM1_uc003qpq.1_Silent_p.L196L|OPRM1_uc003qpr.2_Silent_p.L196L|OPRM1_uc003qpt.1_Silent_p.L196L|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Silent_p.L96L|OPRM1_uc003qpu.2_Silent_p.L96L	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	196					behavior|negative regulation of cell proliferation|sensory perception	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	ACTGGATCCTCTCTTCAGCCA	0.473000														60			46		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63525115	63525115	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:63525115C>T	uc002lkb.3	+	7	1725	c.1299C>T	c.(1297-1299)gtC>gtT	p.V433V	CDH7_uc002ljz.3_Silent_p.V433V|CDH7_uc002lka.3_Silent_p.V433V	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	433	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ACAGTGGGGTCATCACAACTG	0.388000														114			28		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143748286	143748286	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143748286C>T	uc011ktw.2	+	0	792	c.792C>T	c.(790-792)tcC>tcT	p.S264S		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CCCCCAAGTCCCGCCACCCTG	0.572000														131			60		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187042	140187042	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140187042C>T	uc003lhi.2	+	0	371	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.I90I|PCDHAC2_uc011daa.2_Silent_p.I90I	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	105	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGGGAGG	0.622000														96			40		0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71842984	71842984	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:71842984C>T	uc004eax.4	-	17	2236	c.1935G>A	c.(1933-1935)atG>atA	p.M645I	PHKA1_uc004eay.4_Missense_Mutation_p.M645I|PHKA1_uc011mqi.2_Missense_Mutation_p.M645I	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	645					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CATAATCATTCATCCAGTTGC	0.418000														28			42		0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227279	35227279	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:35227279G>A	uc001bxw.4	+	0	424	c.424G>A	c.(424-426)Gat>Aat	p.D142N	GJB4_uc001bxv.1_Missense_Mutation_p.D142N	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	142					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCCGCCGTGGATGCTGGCTT	0.612000														54			18		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42490132	42490132	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42490132C>T	uc002osh.3	-	5	644	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	ATP1A3_uc010xwf.2_Missense_Mutation_p.E175K|ATP1A3_uc010xwg.2_Missense_Mutation_p.E134K|ATP1A3_uc002osg.3_Missense_Mutation_p.E164K|ATP1A3_uc010xwh.2_Missense_Mutation_p.E177K			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	164					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TTCTCACCTTCCCGGATCACC	0.622000														119			31		0	0	1	0	0
SCIN	85477	broad.mit.edu	37	7	12691524	12691524	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:12691524C>T	uc003ssn.4	+	14	2228	c.2018C>T	c.(2017-2019)tCt>tTt	p.S673F	SCIN_uc010ktt.3_Non-coding_Transcript|SCIN_uc003sso.4_Missense_Mutation_p.S426F	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	673	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	p.K672T(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCTCTGAAGTCTGGTAAGCTC	0.368000														6			4		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53666508	53666508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53666508C>T	uc001sck.2	+	5	1464	c.1373C>T	c.(1372-1374)tCt>tTt	p.S458F	ESPL1_uc001scj.2_Missense_Mutation_p.S133F	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	458					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCTGCAGCTTCTTACACCAGT	0.537000														389			128		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047558	42047558	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:42047558G>A	uc001cgz.4	-	3	4124	c.2911C>T	c.(2911-2913)Ctg>Ttg	p.L971L	HIVEP3_uc001cha.4_Silent_p.L971L|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	971	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGGTGCCCAGGGGTTTGGGG	0.617000														89			16		0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123302227	123302227	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:123302227G>A	uc003ieo.3	+	3	485	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	ADAD1_uc003iep.3_Missense_Mutation_p.E85K|ADAD1_uc003ieq.3_Missense_Mutation_p.E67K	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	85					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.E85K(2)|p.E85G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AATACCTAAGGAATTTATAAT	0.368000														84			33		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167039	140167039	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140167039C>T	uc003lhb.2	+	0	1164	c.1164C>T	c.(1162-1164)tcC>tcT	p.S388S	PCDHAC2_uc003lha.2_Silent_p.S388S|PCDHAC2_uc003lgz.3_Silent_p.S388S	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	403	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)			TGACTTGCTCCTTAATGCCCC	0.567000														116			61		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55449572	55449572	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55449572C>T	uc002qih.4	-	4	2045	c.1969G>A	c.(1969-1971)Gat>Aat	p.D657N	NLRP7_uc010esk.3_Missense_Mutation_p.D657N|NLRP7_uc002qig.4_Intron|NLRP7_uc002qii.4_Missense_Mutation_p.D657N|NLRP7_uc010esl.3_Missense_Mutation_p.D685N	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	657							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAGCGAAGATCCTGCCGAGCC	0.502000														81			35		0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52844213	52844213	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52844213G>A	uc001sak.3	-	1	780	c.732C>T	c.(730-732)gaC>gaT	p.D244D		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	244	Coil 1B.|Rod.				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)		CCTCCACCAGGTCCTGCATGT	0.542000														173			15		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10080036	10080036	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10080036G>A	uc002mmq.1	-	56	4227	c.4141C>T	c.(4141-4143)Cct>Tct	p.P1381S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1381	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)			AGGGGGCCAGGAGGGCCCATC	0.597000														47			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593660	179593660	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179593660C>T	uc021vsy.1	-	61	15598	c.15373G>A	c.(15373-15375)Gag>Aag	p.E5125K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1786K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6052	Ig-like 31.						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)			ACTCCTGACTCATTCTTGGCT	0.388000														21			13		0	0	1	0	0
CASP4	837	broad.mit.edu	37	11	104817824	104817824	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:104817824C>T	uc001pid.1	-	6	1094	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	CASP4_uc001pib.1_Missense_Mutation_p.E285K|CASP4_uc009yxg.1_Missense_Mutation_p.E250K	NM_001225	NP_150649	P49662	CASP4_HUMAN	Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA.	341					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CGAAATACTTCCTCTAGGTGG	0.383000														124			44		0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89256788	89256788	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89256788C>T	uc002fmt.3	+	7	1193	c.1116C>T	c.(1114-1116)ccC>ccT	p.P372P		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	372	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCAACGAGCCCCCCGTGTTCC	0.677000														20			5		0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42825720	42825720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:42825720C>T	uc002ihf.3	+	12	1289	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F	DBF4B_uc002ihe.3_Missense_Mutation_p.S173F|DBF4B_uc010wjc.2_Missense_Mutation_p.S359F	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	359					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TGGTCAGGTTCCCCAGCTTCT	0.592000														101			48		0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616152	248616152	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248616152C>T	uc001iek.1	+	0	54	c.54C>T	c.(52-54)ctC>ctT	p.L18L		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			TCACAGGCCTCATCACCCATC	0.517000														173			38		0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60164109	60164109	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60164109G>A	uc001npj.3	+	0	623	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	MS4A14_uc001npi.3_Intron|MS4A14_uc001npn.3_5'UTR|MS4A14_uc001npk.3_Missense_Mutation_p.E20K|MS4A14_uc001npl.3_5'UTR|MS4A14_uc001npm.3_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	20						integral to membrane	receptor activity	p.E20Q(2)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AAAACCAAACGAAACTGTATT	0.458000														32			12		0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109935691	109935691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:109935691C>T	uc001top.3	+	9	1385	c.782C>T	c.(781-783)cCt>cTt	p.P261L	UBE3B_uc001toq.3_Missense_Mutation_p.P261L|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Missense_Mutation_p.P261L	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	261					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						ATGTCTGTGCCTGCTCTGGTG	0.478000														89			29		0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49867482	49867482	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49867482G>A	uc003cxs.1	-	11	1163	c.1057C>T	c.(1057-1059)Ccc>Tcc	p.P353S	TRAIP_uc010hla.1_Missense_Mutation_p.P254S	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	353	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATCTTCTTGGGGACATCCTGA	0.537000														111			35		0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105774679	105774679	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:105774679G>A	uc001pix.2	+	7	1471	c.1025G>A	c.(1024-1026)gGa>gAa	p.G342E	GRIA4_uc001piu.1_Missense_Mutation_p.G342E|GRIA4_uc001piw.2_Missense_Mutation_p.G342E|GRIA4_uc009yxk.1_Missense_Mutation_p.G342E	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	342					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TGGGGCCAGGGAATTGACATG	0.408000														77			34		0	0	1	0	0
CTSS	1520	broad.mit.edu	37	1	150722495	150722495	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:150722495G>A	uc001evn.3	-	5	1041	c.780C>T	c.(778-780)ttC>ttT	p.F260F	CTSS_uc010pcj.2_Silent_p.F210F	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	260					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTGTAGAGGAAGAAAGAAG	0.393000														48			15		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161214772	161214772	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:161214772C>T	uc011bpb.2	+	0	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	59						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AAACCCTCTTCACAGAAATGG	0.468000														72			30		0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133306681	133306681	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:133306681G>A	uc001ukx.2	-	10	2134	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	ANKLE2_uc009zyw.1_Silent_p.A44A	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	689						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTCCCGGCTCGGCGGCTTCTA	0.622000														97			12		0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43821046	43821046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:43821046C>T	uc011apz.2	+	1	495	c.154C>T	c.(154-156)Ctc>Ttc	p.L52F	MPPED1_uc011apv.2_Missense_Mutation_p.L19F|MPPED1_uc011apw.2_Intron|MPPED1_uc011apx.2_Intron|MPPED1_uc011apy.2_Missense_Mutation_p.L19F	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	19							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CCTGGCCCTCCTCCCCTGCGG	0.711000														27			5		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383132	22383132	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22383132C>T	uc001yuc.1	+	6	1641	c.660C>T	c.(658-660)gtC>gtT	p.V220V	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.V220V	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTATGCAGTCATCCTCTGCC	0.502000														81			27		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89979796	89979796	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89979796G>A	uc003kju.3	+	27	6154	c.6058G>A	c.(6058-6060)Gat>Aat	p.D2020N	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2020					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AACACTAGATGATATGGAAAA	0.393000														43			15		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142643391	142643391	+	Missense_Mutation	SNP	C	T	T	rs61729041		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142643391C>T	uc003wcb.3	-	10	1427	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	406			R -> Q (in KEL26 antigen).		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CTTCATCCATCGTGGGCGGGC	0.562000														23			12		0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824044	54824044	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:54824044G>A	uc002xxb.2	+	0	257	c.145G>A	c.(145-147)Ggc>Agc	p.G49S		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	86					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.G86R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTGTCTCTGGGCATCGTCAG	0.567000														137			23		0	0	1	0	0
NECAP1	25977	broad.mit.edu	37	12	8234961	8234962	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8234961_8234962CC>TT	uc001qtx.2	+	0	155_156	c.77_78CC>TT	c.(76-78)gcc>gTT	p.A26V	BC039122_uc001qtw.1_5'Flank|NECAP1_uc001qty.2_5'UTR	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	Homo sapiens NECAP endocytosis associated 1 (NECAP1), transcript variant 1, mRNA.	26					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		CCGCCCCGGGCCTCCAACCGCG	0.634000														23			5		0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151774528	151774528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151774528C>T	uc001ezf.1	-	1	843	c.653G>A	c.(652-654)aGg>aAg	p.R218K	LINGO4_uc021oyu.1_Missense_Mutation_p.R218K	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	218						integral to membrane		p.G217E(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCTGGCAGCCTCCCAATATC	0.657000														80			26		0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123929839	123929839	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:123929839G>A	uc004bkx.1	+	34	5759	c.5728G>A	c.(5728-5730)Gaa>Aaa	p.E1910K	CNTRL_uc004blb.1_Missense_Mutation_p.E579K|CNTRL_uc010mvp.1_5'UTR	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	1910					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGACATCAGTGAATGGGCAAA	0.433000														39			18		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134627674	134627674	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:134627674C>T	uc021qbc.1	-	53	7471	c.7370G>A	c.(7369-7371)gGa>gAa	p.G2457E		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	618										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GTGCTTGCTTCCCAGATGTCC	0.587000														39			12		0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	120008530	120008530	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:120008530G>A	uc001pwz.3	-	0	334	c.210C>T	c.(208-210)ttC>ttT	p.F70F	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	70					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CATTGCCCGCGAACAGGGCGC	0.622000														201			36		0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33454981	33454981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:33454981G>A	uc003xjp.3	-	1	386	c.53C>T	c.(52-54)tCc>tTc	p.S18F	DUSP26_uc003xjq.3_Missense_Mutation_p.S18F	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA.	18						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GCTACTCCGGGAGAAGCGGGC	0.552000														38			10		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507679	155507679	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155507679C>T	uc003iod.1	-	4	960	c.902G>A	c.(901-903)gGa>gAa	p.G301E	FGA_uc003ioe.1_Missense_Mutation_p.G301E|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	301					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACTTCCAGGTCCAGAGCTCCC	0.577000														145			53		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89388907	89388907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89388907C>T	uc010upo.1	+	6	1597	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	ACAN_uc002bmx.3_Missense_Mutation_p.S408F|ACAN_uc010upp.1_Missense_Mutation_p.S408F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	408					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)			TTCGAGGTCTCCCCCAGTCCC	0.602000														60			16		0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85970858	85970858	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:85970858C>T	uc001kcv.3	+	12	1527	c.1422C>T	c.(1420-1422)tcC>tcT	p.S474S	CDHR1_uc001kcw.3_Silent_p.S474S|CDHR1_uc009xst.3_Intron|CDHR1_uc001kcx.3_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	474	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AGTTCGACTCCCTCTACTACG	0.582000														90			40		0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	27010620	27010620	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:27010620T>A	uc003gsg.4	+	9	2013	c.1485T>A	c.(1483-1485)ttT>ttA	p.F495L	STIM2_uc003gsh.4_Missense_Mutation_p.F503L|STIM2_uc010iex.3_Missense_Mutation_p.F495L|STIM2_uc010iey.3_Missense_Mutation_p.F206L	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	Homo sapiens stromal interaction molecule 2 (STIM2), transcript variant 2, mRNA.	495					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	p.D494Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TGTCACAATTTCCCGGTAAGT	0.418000														83			34		0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350254	51350254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51350254C>T	uc001zyy.3	-	2	803	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	235										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TGCACCAGTTCATGCACCAGG	0.552000														40			19		0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3019165	3019165	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:3019165G>A	uc022brz.1	+	7	1141	c.1005G>A	c.(1003-1005)agG>agA	p.R335R	ARSF_uc004cre.2_Silent_p.R335R|ARSF_uc004crf.2_Silent_p.R335R	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	335						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGGCCTAAGGAACAACACCC	0.408000														19			26		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	30730	30730	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000209.1:30730G>A	uc002qts.2	+	5	694	c.665_splice	c.e5-1	p.G222_splice	KIR2DL2_uc002qtt.2_Splice_Site_p.G222_splice	NM_014219	NP_055034	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 (KIR2DL2), mRNA.	222					regulation of immune response	integral to membrane|plasma membrane	receptor activity										TCATGTTCTAGGAAACCCTTC	0.463000														67			91		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117681165	117681165	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117681165G>A	uc001twn.2	-	19	3712	c.3001C>T	c.(3001-3003)Cgc>Tgc	p.R1001C	NOS1_uc021ren.1_Missense_Mutation_p.R631C|NOS1_uc021reo.1_Missense_Mutation_p.R631C|NOS1_uc001twm.2_Missense_Mutation_p.R967C	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	967	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R1001Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTCCAGCTGCGATCATTGCTG	0.512000														72			24		0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149428833	149428833	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149428833C>T	uc003wfz.3	+	16	2614	c.2215C>T	c.(2215-2217)Ctg>Ttg	p.L739L	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Silent_p.L347L	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	740	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATCCAGAGGCCTGGAGCTTGG	0.587000														13			4		0	0	1	0	0
TM4SF20	79853	broad.mit.edu	37	2	228243815	228243815	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228243815C>T	uc002vpb.2	-	0	208	c.170G>A	c.(169-171)gGa>gAa	p.G57E		NM_024795	NP_079071	Q53R12	T4S20_HUMAN	Homo sapiens transmembrane 4 L six family member 20 (TM4SF20), mRNA.	57						integral to membrane|plasma membrane		p.G57A(2)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CAGACCTGCTCCTATAATTCC	0.418000														82			26		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28284008	28284008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:28284008C>T	uc009xky.3	-	1	162	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	ARMC4_uc001itz.3_Missense_Mutation_p.E22K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	22							binding	p.E22K(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGGGTGATTTCGAGGATTCCA	0.453000														53			19		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55269448	55269448	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55269448C>T	uc003tqk.3	+	25	3381	c.3135C>T	c.(3133-3135)tcC>tcT	p.S1045S	EGFR_uc022adm.1_Silent_p.S1045S|EGFR_uc010kzg.2_Silent_p.S1000S|EGFR_uc022adn.1_Silent_p.S1000S|EGFR_uc011kco.2_Silent_p.S992S	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	1045	Ser-rich.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCAACAATTCCACCGTGGCTT	0.433000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				117			45		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961754	34961754	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:34961754C>T	uc004ddi.2	+	0	842	c.806C>T	c.(805-807)tCc>tTc	p.S269F		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	269	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ACTCTGGTGTCCAGTGTCCAC	0.627000														38			47		0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096780	107096780	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:107096780G>A	uc003dwi.1	+	0	593	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	116										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GAATGTTAATGAAGACAAACA	0.378000														43			19		0	0	1	0	0
KCTD17	79734	broad.mit.edu	37	22	37457582	37457582	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37457582C>T	uc010gxb.3	+	7	810	c.788C>T	c.(787-789)tCc>tTc	p.S263F	KCTD17_uc011amv.2_Missense_Mutation_p.S246F	NM_024681	NP_078957	Q8N5Z5	KCD17_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 17 (KCTD17), mRNA.	270	Pro-rich.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	p.P262L(1)		NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						CTTGCAGGTTCCCGTCCGCAC	0.677000														21			6		0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99925834	99925834	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:99925834C>T	uc004egb.3	+	10	1728	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	416					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GCTCCTACTTCAACATGGTGT	0.522000											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			49		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124258721	124258721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124258721G>A	uc001uft.4	+	4	373	c.348G>A	c.(346-348)atG>atA	p.M116I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	116	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTACCGACATGAAGGAAGCTA	0.403000														84			20		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113212415	113212415	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113212415C>T	uc010mtz.3	-	23	4364	c.4027G>A	c.(4027-4029)Gga>Aga	p.G1343R	SVEP1_uc010mua.1_Missense_Mutation_p.G1343R	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1343	EGF-like 4; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.C1342W(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACGTTCTTTCCACATCGGGTA	0.458000														283			29		0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162729659	162729659	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:162729659C>T	uc001gcf.3	+	8	1210	c.745C>T	c.(745-747)Cac>Tac	p.H249Y	DDR2_uc001gcg.3_Missense_Mutation_p.H249Y	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	249					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CCATGAATACCACGTGTGGCC	0.532000														77			17		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106918708	106918708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106918708G>A	uc001kyi.1	+	10	1915	c.1688G>A	c.(1687-1689)aGa>aAa	p.R563K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	563						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCCTCAGGAAGAATCTCTAGC	0.418000														65			36		0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175742	159175742	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159175742G>A	uc001ftp.4	+	0	694	c.519G>A	c.(517-519)gtG>gtA	p.V173V	DARC_uc001fto.3_Silent_p.V171V	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	171					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGCTCACTGTGGGAATTTGGG	0.632000														24			5		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144994716	144994716	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:144994716G>A	uc021ouh.1	-	0	318	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Missense_Mutation_p.R6C|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.R6C|PDE4DIP_uc001elx.4_Intron|PDE4DIP_uc001emd.2_Missense_Mutation_p.R6C|PDE4DIP_uc001emc.2_Missense_Mutation_p.R6C|PDE4DIP_uc001emg.2_Missense_Mutation_p.R6C|PDE4DIP_uc021oui.1_Intron|PDE4DIP_uc021ouj.1_Intron|PDE4DIP_uc001emh.3_Intron	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	6					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)		GACAGAGTGCGATATCCATTA	0.567000			T	PDGFRB	MPD									125			11		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34079764	34079764	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:34079764C>T	uc002hjv.2	-	0	134	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	36	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCAGGTCTTCCTTCATGGCC	0.632000														45			31		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166924631	166924631	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:166924631G>A	uc003irh.2	+	5	1368	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	TLL1_uc021xud.1_Missense_Mutation_p.E241K|TLL1_uc011cjn.2_Missense_Mutation_p.E241K|TLL1_uc011cjo.2_Missense_Mutation_p.E65K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	241	Metalloprotease (By similarity).				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)		TGTTGTTCATGAATTGGGTCA	0.443000														96			36		0	0	1	0	0
ZNF20	7568	broad.mit.edu	37	19	12243696	12243696	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12243696G>A	uc002mtg.2	-	7	1887	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	ZNF20_uc002mte.2_Silent_p.F400F|ZNF20_uc002mtf.2_Silent_p.F435F|ZNF20_uc021upm.1_Silent_p.F432F	NM_021143	NP_066966	P17024	ZNF20_HUMAN	Homo sapiens zinc finger protein 20 (ZNF20), transcript variant 1, mRNA.	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						GCAAGGAAGAGAAATACCTGA	0.408000														68			21		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60908263	60908263	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:60908263G>A	uc002ycq.3	-	25	3232	c.3165C>T	c.(3163-3165)ttC>ttT	p.F1055F	LAMA5_uc021wfw.1_Silent_p.F1055F|MIR4758_uc021wfx.1_5'Flank	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1055	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGCCGAGGGGAAGCCATCCA	0.711000														31			12		0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922587	43922587	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:43922587G>A	uc010wka.2	+	0	332	c.315G>A	c.(313-315)acG>acA	p.T105T	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	105						integral to membrane	aspartic-type endopeptidase activity										GCTTCCACACGAAAGGCTGGC	0.667000														30			8		0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15893541	15893541	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:15893541C>T	uc002yju.1	-	2	140	c.58_splice	c.e2-1	p.R20_splice	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Splice_Site_p.R88_splice	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	20					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ACTGCTGCTTCGCTATAAAAT	0.303000														21			11		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46832585	46832585	+	Missense_Mutation	SNP	G	A	A	rs145401391		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46832585G>A	uc002peh.3	+	11	1593	c.1562G>A	c.(1561-1563)cGg>cAg	p.R521Q	HIF3A_uc002peg.4_Missense_Mutation_p.R521Q|HIF3A_uc021uwf.1_Missense_Mutation_p.R465Q|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Missense_Mutation_p.R452Q|HIF3A_uc002pel.3_Missense_Mutation_p.R519Q|HIF3A_uc010xxz.2_Missense_Mutation_p.R470Q	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	521	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCTGTCCCCCGGCCCCGTGCT	0.672000														62			25		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11236895	11236895	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:11236895G>A	uc003jfa.1	-	9	1814	c.1669C>T	c.(1669-1671)Cag>Tag	p.Q557*	CTNND2_uc010itt.2_Nonsense_Mutation_p.Q466*|CTNND2_uc011cmy.1_Nonsense_Mutation_p.Q220*|CTNND2_uc011cmz.1_Nonsense_Mutation_p.Q124*|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Nonsense_Mutation_p.Q124*	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	557					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.Q557K(2)|p.Q557E(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCAACATCTGAATCACTTCC	0.483000														89			39		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73477983	73477983	+	Missense_Mutation	SNP	G	A	A	rs34852121		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:73477983G>A	uc003tzw.3	+	28	2060	c.1969G>A	c.(1969-1971)Gga>Aga	p.G657R	ELN_uc003tzn.3_Missense_Mutation_p.G651R|ELN_uc003tzy.3_Missense_Mutation_p.G627R|ELN_uc003tzz.3_Missense_Mutation_p.G570R|ELN_uc003tzo.3_Missense_Mutation_p.G603R|ELN_uc003tzp.3_Missense_Mutation_p.G562R|ELN_uc003tzq.3_Missense_Mutation_p.G515R|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.G632R|ELN_uc003tzt.3_Missense_Mutation_p.G656R|ELN_uc003tzu.3_Missense_Mutation_p.G637R|ELN_uc003tzv.3_Missense_Mutation_p.G622R|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G641R|ELN_uc011kff.2_Missense_Mutation_p.G651R	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	713	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CGGAGGACTCGGAGTCGGAGG	0.587000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							109			18		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682041	69682041	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69682041G>A	uc003hee.3	+	0	329	c.304G>A	c.(304-306)Gat>Aat	p.D102N	UGT2B10_uc011cam.2_Missense_Mutation_p.D102N	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	102					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AATTCAAAAAGATACATTTTG	0.289000														97			28		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101523896	101523896	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:101523896C>T	uc002bwr.3	+	3	744	c.425C>T	c.(424-426)tCc>tTc	p.S142F	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Missense_Mutation_p.S142F	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	142					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTGCTTGAGTCCTTACCAGGT	0.527000														78			25		0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71232942	71232942	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:71232942C>T	uc002jjm.4	+	2	1515	c.1321C>T	c.(1321-1323)Cag>Tag	p.Q441*	C17orf80_uc010wqu.1_Nonsense_Mutation_p.Q441*|C17orf80_uc010dfj.3_Nonsense_Mutation_p.Q441*|C17orf80_uc002jjk.1_Nonsense_Mutation_p.Q441*|C17orf80_uc002jjl.4_Nonsense_Mutation_p.Q441*	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	Homo sapiens chromosome 17 open reading frame 80 (C17orf80), transcript variant 1, mRNA.	441						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			TCACACTCCTCAGAGCCCCTT	0.552000														67			31		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28441679	28441679	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:28441679A>T	uc001zbj.3	-	50	8154	c.8048T>A	c.(8047-8049)tTt>tAt	p.F2683Y	HERC2_uc001zbk.1_Missense_Mutation_p.F218Y	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2683					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGCTGGGGAAAGTCGACAAT	0.413000														83			13		0	0	1	0	0
CNTFR	1271	broad.mit.edu	37	9	34552812	34552812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:34552812G>A	uc003zup.2	-	7	1103	c.809C>T	c.(808-810)gCc>gTc	p.A270V	CNTFR_uc003zuq.2_Missense_Mutation_p.A270V|CNTFR_uc022bgg.1_Missense_Mutation_p.A270V	NM_147164	NP_671693	P26992	CNTFR_HUMAN	Homo sapiens ciliary neurotrophic factor receptor (CNTFR), transcript variant 1, mRNA.	270	Fibronectin type-III 2.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		CCCGGCGTAGGCATCTGTGAT	0.622000														126			22		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68631940	68631940	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:68631940C>T	uc010bib.3	-	10	1261	c.1174G>A	c.(1174-1176)Gga>Aga	p.G392R	ITGA11_uc002ari.3_Missense_Mutation_p.G392R	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	392					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AGCACAGCTCCATTCCAGTCA	0.587000														55			43		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158644199	158644199	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158644199C>T	uc001fst.1	-	9	1469	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	424					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAAATCGGTCATCGTAAGAG	0.448000														170			72		0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25343562	25343562	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:25343562G>A	uc001rgk.3	-	1	89	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	CASC1_uc001rgj.3_5'UTR|CASC1_uc001rgm.4_Missense_Mutation_p.P61S|CASC1_uc001rgl.3_Intron|CASC1_uc010sje.2_Intron|CASC1_uc010sjf.2_Intron|CASC1_uc010sjg.1_Intron|CASC1_uc010sjh.1_Non-coding_Transcript	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	0										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTTGCTTTGGGACCCTAAAAG	0.244000														48			19		0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797208	127797208	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:127797208C>T	uc003qbd.3	-	5	2828	c.1963G>A	c.(1963-1965)Gag>Aag	p.E655K	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	655						integral to membrane											AGCTCCGTCTCGTCTTCCACC	0.632000														60			9		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136561642	136561642	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136561642C>T	uc002tuu.1	-	10	4532	c.4521G>A	c.(4519-4521)gaG>gaA	p.E1507E		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1507	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGTCTCATTCTCCCAGCCTC	0.517000														72			25		0	0	1	0	0
TRA	0	broad.mit.edu	37	14	22180969	22180969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22180969G>A	uc021roz.1	+	1	249	c.241G>A	c.(241-243)Gga>Aga	p.G81R						Homo sapiens mRNA for T cell receptor alpha variable 2, partial cds, clone: SEB 280.																		TTCTCAGCAGGGACGATACAA	0.502000														192			73		0	0	1	0	0
MARS2	92935	broad.mit.edu	37	2	198570227	198570227	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:198570227C>T	uc002uuq.3	+	0	200	c.98C>T	c.(97-99)tCc>tTc	p.S33F	BC021693_uc002uup.3_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA.	33					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	AGTTCGGGCTCCCTCAGTGCC	0.622000														60			17		0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165383628	165383628	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:165383628G>A	uc002ucl.3	-	3	1040	c.499C>T	c.(499-501)Cac>Tac	p.H167Y	GRB14_uc010zcv.2_Missense_Mutation_p.H80Y	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	167	Ras-associating.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						ACCAGTTCGTGGTCTTCTATT	0.264000														79			24		0	0	1	0	0
FAM190A	401145	broad.mit.edu	37	4	91389464	91389464	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:91389464G>A	uc003hsv.4	+	4	2023	c.1683G>A	c.(1681-1683)atG>atA	p.M561I	FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.M561I	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	561										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TGATAGAAATGAAGAAAAGAG	0.383000														33			12		0	0	1	0	0
HSFY1P1	27437	broad.mit.edu	37	22	17308721	17308721	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17308721C>T	uc010gqr.1	+	0		c.358C>T								Homo sapiens heat shock transcription factor, Y-linked 1 pseudogene 1 (HSFY1P1), non-coding RNA.																		CAATTCAAGTCTAATTCATAG	0.318000														24			7		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32341039	32341039	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:32341039C>T	uc002wzy.3	+	4	571	c.551C>T	c.(550-552)cCt>cTt	p.P184L	ZNF341_uc002wzx.3_Missense_Mutation_p.P184L|ZNF341_uc010geq.3_Missense_Mutation_p.P94L|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	184	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						cctcctccacctcctccacca	0.612000														57			31		0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61226934	61226934	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61226934G>A	uc010xeo.2	+	2	427	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	SERPINB12_uc010xen.2_Missense_Mutation_p.E123K	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	123					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TGGAGAGCAGGAATTCCCAAT	0.463000														123			11		0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201778347	201778347	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201778347C>T	uc021phi.1	+	20	4610	c.4263C>T	c.(4261-4263)ctC>ctT	p.L1421L	NAV1_uc001gwu.3_Silent_p.L1418L|NAV1_uc001gwx.3_Silent_p.L1027L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1421					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AAGTGACCCTCCGGGTGGTGG	0.512000														158			49		0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98189325	98189325	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:98189325G>A	uc003dsm.3	+	0	905	c.905G>A	c.(904-906)aGa>aAa	p.R302K		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTGTCTTAAGAAAAATTCTG	0.294000														46			14		0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394122	17394122	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17394122C>T	uc010xpn.1	+	4	825	c.711C>T	c.(709-711)ggC>ggT	p.G237G	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Silent_p.G183G|ANKLE1_uc010eao.1_Silent_p.G205G|ANKLE1_uc002nfy.2_Silent_p.G172G|ANKLE1_uc002nfz.2_5'UTR			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	183						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GGGACATTGGCTTGGAGGCTG	0.602000														126			29		0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95540699	95540699	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:95540699G>A	uc002stw.1	+	3	985	c.892G>A	c.(892-894)Gag>Aag	p.E298K	LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	298					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCGCTGTGAGGAGCTGGAGGA	0.682000														19			7		0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106207896	106207896	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106207896C>T	uc001yse.3	-	4	951	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		AAGACGTTCCCCTGCTGCCAC	0.597000														118			36		0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780368	37780368	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:37780368G>A	uc003tfm.1	+	0	373	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	125						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGACAAAGTGGAATTCTACAG	0.498000														144			35		0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101971537	101971537	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:101971537C>T	uc002bxa.2	-	4	956	c.642G>A	c.(640-642)ctG>ctA	p.L214L	PCSK6_uc010bpd.3_Silent_p.L85L|PCSK6_uc002bwy.3_Silent_p.L214L|PCSK6_uc010bpe.3_Silent_p.L211L|PCSK6_uc002bxb.2_Silent_p.L214L|PCSK6_uc002bxc.1_Silent_p.L214L|PCSK6_uc002bxd.1_Silent_p.L214L|PCSK6_uc002bxe.3_Silent_p.L214L|PCSK6_uc002bxg.1_Silent_p.L214L	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	215	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AATTTGGGGCCAGGTCAGGGT	0.448000														50			14		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037470	75037470	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75037470C>T	uc001dgg.3	-	13	4143	c.3924G>A	c.(3922-3924)gcG>gcA	p.A1308A		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1308	Glu-rich.							p.A1308V(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						TGTCCTGCATCGCTTCTGTCT	0.542000														144			68		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21235097	21235097	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21235097G>A	uc002red.3	-	25	4771	c.4643C>T	c.(4642-4644)tCt>tTt	p.S1548F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1548					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGCAGATCAGAGGTGGAGGT	0.433000														89			25		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9934828	9934828	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:9934828T>A	uc010uym.2	-	6	1772	c.1462A>T	c.(1462-1464)Aaa>Taa	p.K488*	GRIN2A_uc002czo.4_Nonsense_Mutation_p.K488*|GRIN2A_uc010uyn.2_Nonsense_Mutation_p.K331*|GRIN2A_uc002czr.4_Nonsense_Mutation_p.K488*	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	488					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGTTAACTTTCTTGCCATGC	0.438000														116			57		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518118	8518118	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:8518118G>A	uc003zkk.3	-	20	2016	c.1273C>T	c.(1273-1275)Cag>Tag	p.Q425*	PTPRD_uc003zkp.3_Nonsense_Mutation_p.Q425*|PTPRD_uc003zkq.3_Nonsense_Mutation_p.Q425*|PTPRD_uc003zkr.3_Nonsense_Mutation_p.Q419*|PTPRD_uc003zks.3_Nonsense_Mutation_p.Q415*|PTPRD_uc022bdj.1_Nonsense_Mutation_p.Q422*	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	425	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTCGTGCCTGGACATCCCTC	0.502000										TSP Lung(15;0.13)				93			55		0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52754805	52754805	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52754805G>A	uc001sag.3	-	8	1476	c.1356C>T	c.(1354-1356)gtC>gtT	p.V452V		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	452	Tail.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCCACAGGAGACTCCACCAC	0.652000														10			4		0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85540643	85540643	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:85540643C>T	uc011ccv.2	+	4	1035	c.537C>T	c.(535-537)ctC>ctT	p.L179L		NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	179					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TTCAGTTCCTCATTCGCTACC	0.313000														86			18		0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55522958	55522958	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:55522958C>T	uc002ryv.2	-	30	6165	c.5323G>A	c.(5323-5325)Ggc>Agc	p.G1775S	CCDC88A_uc010ypa.1_Intron|CCDC88A_uc010yoz.1_Missense_Mutation_p.G1748S|CCDC88A_uc002ryt.2_Missense_Mutation_p.G66S|CCDC88A_uc010fbw.2_Missense_Mutation_p.G277S|CCDC88A_uc002ryu.2_Missense_Mutation_p.G1030S|CCDC88A_uc002rys.3_Missense_Mutation_p.G733S|CCDC88A_uc002ryw.3_Missense_Mutation_p.G1059S|CCDC88A_uc010fby.1_Missense_Mutation_p.G627S	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	1776					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CCTTGAGTGCCTGGTGTAGGT	0.403000														65			23		0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72946126	72946126	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:72946126C>T	uc021qna.1	+	0	922	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L	P2RY2_uc001otk.3_Silent_p.L308L|P2RY2_uc001otj.3_Silent_p.L308L|P2RY2_uc001otl.3_Silent_p.L308L	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	308					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCTCTACTTCCTGGCTGGGCA	0.662000														29			9		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27458232	27458232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27458232C>T	uc002rji.3	+	23	4068	c.3906C>T	c.(3904-3906)gcC>gcT	p.A1302A	CAD_uc010eyw.3_Silent_p.A1239A	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1302	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACCTCAAGGCCATGCTAAGCA	0.582000														88			44		0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78608307	78608307	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:78608307C>T	uc003kfx.4	+	7	2599	c.2050C>T	c.(2050-2052)Cga>Tga	p.R684*	JMY_uc003kfw.1_Nonsense_Mutation_p.R330*	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.	684					'de novo' actin filament nucleation|Arp2/3 complex-mediated actin nucleation|DNA repair|actin polymerization-dependent cell motility|cell cycle arrest|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GGATAGACTTCGAACATTTAA	0.303000														94			24		0	0	1	0	0
CEP44	80817	broad.mit.edu	37	4	175224908	175224908	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:175224908C>T	uc010iro.2	+	4	597	c.292C>T	c.(292-294)Caa>Taa	p.Q98*	CEP44_uc003its.2_Non-coding_Transcript|CEP44_uc003itr.3_Nonsense_Mutation_p.Q98*	NM_001145314	NP_001138786	Q9C0F1	CEP44_HUMAN	Homo sapiens centrosomal protein 44kDa (CEP44), transcript variant 2, mRNA.	98						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						GCAGTTTATCCAATGTGGGTT	0.318000														42			15		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167814979	167814979	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167814979C>T	uc001ger.3	-	20	3127	c.2829G>A	c.(2827-2829)aaG>aaA	p.K943K	ADCY10_uc010plj.2_Silent_p.K790K|ADCY10_uc009wvk.3_Silent_p.K851K|ADCY10_uc009wvl.3_Silent_p.K942K	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	943					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTCTCTGGTCCTTGAGCCACA	0.498000														98			8		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31434773	31434773	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31434773C>T	uc010cap.1	+	24	3012	c.2963C>T	c.(2962-2964)cCa>cTa	p.P988L	ITGAD_uc002ebv.1_Missense_Mutation_p.P987L	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	987					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGAGGCCCCATCTCAGGTA	0.542000														62			20		0	0	1	0	0
TSPY1	7258	broad.mit.edu	37	Y	9305956	9305956	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:9305956C>T	uc004frw.4	+	2	658	c.612C>T	c.(610-612)ttC>ttT	p.F204F	TSPY3_uc004fse.3_Intron|TSPY1_uc004frx.4_Silent_p.F204F|TSPY1_uc010nwp.1_Intron	NM_003308	NP_003299	Q01534	TSPY1_HUMAN	Homo sapiens testis specific protein, Y-linked 1 (TSPY1), transcript variant 1, mRNA.	204					cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus	identical protein binding			lung(4)	4						TCATGTTGTTCTTTCGGAGTA	0.478000														272			47		0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101095769	101095769	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:101095769G>A	uc011mrk.1	-	8	939	c.579C>T	c.(577-579)tcC>tcT	p.S193S	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	193					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CCTTATTTTTGGAGAGATTCA	0.498000														24			4		0	0	1	0	0
FOXN2	3344	broad.mit.edu	37	2	48602074	48602074	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:48602074C>T	uc002rwh.1	+	6	1103	c.788C>T	c.(787-789)cCt>cTt	p.P263L		NM_002158	NP_002149	P32314	FOXN2_HUMAN	Homo sapiens forkhead box N2 (FOXN2), mRNA.	263					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			AAGCCTCTTCCTCTTAAAACA	0.378000														63			13		0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54647985	54647986	+	Missense_Mutation	DNP	AC	TT	TT	rs138688054	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54647985_54647986AC>TT	uc002qdj.2	+	6	724_725	c.400_401AC>TT	c.(400-402)acg>TTg	p.T134L	CNOT3_uc010yel.2_Missense_Mutation_p.T134L|CNOT3_uc002qdi.3_Missense_Mutation_p.T47L|CNOT3_uc002qdk.2_Missense_Mutation_p.T134L|CNOT3_uc010ere.2_Non-coding_Transcript	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	134					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TACCATCGACACGCTCAACATG	0.559000														28			17		0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35947969	35947969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:35947969G>A	uc003anx.3	+	2	896	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	RASD2_uc003any.3_Missense_Mutation_p.V231I	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	231	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CTATGGCATGGTCTCGCCCTT	0.647000														53			18		0	0	1	0	0
HAUS1	115106	broad.mit.edu	37	18	43698189	43698189	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:43698189C>T	uc002lbu.3	+	2	328	c.248C>T	c.(247-249)tCc>tTc	p.S83F	HAUS1_uc002lbv.3_Missense_Mutation_p.S7F	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 1 (HAUS1), transcript variant 1, mRNA.	83					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GTGAATTTTTCCCCCGCCAAT	0.418000														107			35		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227919409	227919409	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:227919409C>T	uc021vxr.1	-	29	2862	c.2761G>A	c.(2761-2763)Gga>Aga	p.G921R	COL4A4_uc021vxs.1_Missense_Mutation_p.G921R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	921	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCAGGCTTTCCTCTTTCTCCG	0.512000														60			20		0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211163161	211163161	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:211163161C>T	uc002vec.3	-	2	416	c.287G>A	c.(286-288)gGa>gAa	p.G96E	MYL1_uc002veb.3_Missense_Mutation_p.G52E	NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	96					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GCTGGGGTTTCCCAGAACTTT	0.483000														129			39		0	0	1	0	0
CHST3	9469	broad.mit.edu	37	10	73768064	73768064	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73768064C>T	uc001jsn.3	+	2	1715	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	ANAPC16_uc021psn.1_Intron	NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	Homo sapiens carbohydrate (chondroitin 6) sulfotransferase 3 (CHST3), mRNA.	425					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						CGGAGCAGTTCGAGAAGTGGC	0.652000														5			5		0	0	1	0	0
PAPL	390928	broad.mit.edu	37	19	39576015	39576015	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39576015C>T	uc002oki.3	+	1	380	c.106C>T	c.(106-108)Cat>Tat	p.H36Y	PAPL_uc010egl.3_Missense_Mutation_p.H36Y	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	36						extracellular region	acid phosphatase activity|metal ion binding										AGAGCAAGTCCATCTGTCTTA	0.582000														116			36		0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61053825	61053825	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:61053825G>A	uc001nra.3	-	4	781	c.502C>T	c.(502-504)Ccg>Tcg	p.P168S	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	168	EGF-like 2; calcium-binding (Potential).					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGCATGCCCGGCCCACACTCG	0.572000														139			75		0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109881406	109881406	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:109881406G>A	uc010sxn.1	+	26	2728	c.2728G>A	c.(2728-2730)Gtg>Atg	p.V910M	MYO1H_uc010sxo.1_Missense_Mutation_p.V101M	NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	101						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AGCTTACGTGGTGGAACTTGC	0.443000														20			10		0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148975505	148975505	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:148975505C>T	uc011kuo.2	+	4	852	c.689C>T	c.(688-690)cCa>cTa	p.P230L	AF035281_uc003wfr.4_Non-coding_Transcript	NM_001195220	NP_001182149	C9J9J2	C9J9J2_HUMAN	Homo sapiens zinc finger family member 783 (ZNF783), mRNA.	230					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CCTCCGTATCCAGAGCACCTC	0.607000														27			12		0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33587345	33587345	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:33587345C>T	uc002nug.1	+	6	1159	c.845C>T	c.(844-846)tCa>tTa	p.S282L		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	282						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TTGGGAATTTCAGGCCAGGTA	0.343000														58			10		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43109933	43109933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43109933C>T	uc011dve.1	+	12	2009	c.1967C>T	c.(1966-1968)tCc>tTc	p.S656F	PTK7_uc003oub.1_Missense_Mutation_p.S648F|PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Missense_Mutation_p.S608F|PTK7_uc003oue.1_Missense_Mutation_p.S518F|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	648	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CAGAATGGCTCCCTGGTGATC	0.627000														69			28		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34064204	34064204	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34064204C>T	uc001zhi.3	+	62	8970	c.8900C>T	c.(8899-8901)aCt>aTt	p.T2967I	RYR3_uc010bar.3_Missense_Mutation_p.T2967I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2967					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGGAGAAGACTTCAGAAAAC	0.458000														23			4		0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31150654	31150654	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31150654C>T	uc002ebd.3	-	14	2432	c.2373G>A	c.(2371-2373)gaG>gaA	p.E791E	PRSS36_uc010vff.2_Silent_p.E566E|PRSS36_uc010vfg.2_Silent_p.E786E|PRSS36_uc010vfh.2_Silent_p.E688E	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	791	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CAGCAAACAGCTCCCGGCTCC	0.632000														56			8		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29886201	29886201	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:29886201G>A	uc003afo.3	+	3	2643	c.2572G>A	c.(2572-2574)Gac>Aac	p.D858N	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	864	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GGAGAAGAAGGACAGCAAGAA	0.527000														23			8		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18725192	18725192	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:18725192G>A	uc003wza.3	-	3	1729	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	542	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCCCCAGAAAGCAATCT	0.458000														67			6		0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82644405	82644405	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:82644405C>T	uc001ozt.3	+	5	2269	c.2025C>T	c.(2023-2025)gcC>gcT	p.A675A	C11orf82_uc010rsr.2_Silent_p.A374A|C11orf82_uc010rss.2_Silent_p.A374A|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	675					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GCTATGATGCCTCTGCTGATC	0.348000														194			58		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995647	19995647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:19995647G>A	uc002ktv.1	-	0	2232	c.2128C>T	c.(2128-2130)Cca>Tca	p.P710S		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	710	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGTGGACCTGGGACATCCCTT	0.522000														95			33		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40368832	40368833	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40368832_40368833CC>TT	uc002omp.4	-	27	12523_12524	c.12515_12516GG>AA	c.(12514-12516)ggg>gAA	p.G4172E		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4172	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGAAATCCGCCCGTCGGCCAC	0.619000														225			38		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539793	94539793	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94539793G>A	uc003unp.3	+	1	650	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	PPP1R9A_uc010lfj.3_Missense_Mutation_p.R123Q|PPP1R9A_uc011kif.2_Missense_Mutation_p.R123Q|PPP1R9A_uc003unq.3_Missense_Mutation_p.R123Q|PPP1R9A_uc011kig.2_Missense_Mutation_p.R123Q	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	123	Actin-binding.					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)			GTTTCTGAACGAATTAGTAGA	0.403000										HNSCC(28;0.073)				109			39		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52547965	52547965	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52547965C>T	uc003dej.3	+	31	3489	c.3415C>T	c.(3415-3417)Cct>Tct	p.P1139S		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1139	FAS1 4.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGACTTGGTGCCTGCCTTCAG	0.642000														121			53		0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125240122	125240122	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125240122G>A	uc011lyu.2	-	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GGAACAGGGCGAAGAACACGG	0.587000														124			63		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11078583	11078583	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:11078583C>T	uc010hdq.3	+	15	2142	c.1731C>T	c.(1729-1731)atC>atT	p.I577I		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	577				I -> T (in Ref. 1; CAA38484).	neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GCGAAGACATCGTTCGCCCAG	0.632000														71			30		0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4615509	4615509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4615509G>A	uc010qyi.2	+	0	241	c.241G>A	c.(241-243)Gtg>Atg	p.V81M		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCTCCTCCGTGGTACCCAA	0.502000														176			30		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10942755	10942755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:10942755C>T	uc002yip.1	-	12	1054	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R211Q|TPTE_uc002yir.1_Missense_Mutation_p.R191Q|TPTE_uc010gkv.1_Missense_Mutation_p.R91Q	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	229	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I228V(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)		CCTTGTGTATCGCCTTTTGTT	0.323000														441			65		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107481	6107481	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:6107481C>T	uc010idb.1	-	2	829	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.A115T|JAKMIP1_uc003giu.4_Missense_Mutation_p.A115T|JAKMIP1_uc011bwc.2_Intron|JAKMIP1_uc003giv.4_Missense_Mutation_p.A115T|JAKMIP1_uc010ide.3_Missense_Mutation_p.A115T	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	115	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCAGCGTGGCCTGCAGCCGC	0.726000														17			3		0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31488639	31488639	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31488639C>T	uc002ecd.2	+	10	1162	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	TGFB1I1_uc021tgx.1_Silent_p.F359F|TGFB1I1_uc002ece.2_Silent_p.F359F	NM_001042454	NP_057011	O43294	TGFI1_HUMAN	Homo sapiens transforming growth factor beta 1 induced transcript 1 (TGFB1I1), transcript variant 1, mRNA.	376	LIM zinc-binding 3.				Wnt receptor signaling pathway|androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	I-SMAD binding|Roundabout binding|androgen receptor binding|transcription coactivator activity|zinc ion binding	p.F376F(1)|p.F359F(1)		lung(8)|upper_aerodigestive_tract(1)	9						AGGAATGCTTCGCGCCCTTCT	0.662000														28			18		0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5011070	5011070	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:5011070C>T	uc001iho.3	+	9	1345	c.504C>T	c.(502-504)ttC>ttT	p.F168F	AKR1C3_uc001ihr.3_Intron|AKR1C3_uc001ihq.3_Silent_p.F168F	NM_001353	NP_001344	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1), mRNA.	168					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TGTCCAACTTCAACCGCAGGC	0.517000														80			42		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76490701	76490701	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76490701G>A	uc010dhp.2	-	39	6369	c.6244C>T	c.(6244-6246)Cgg>Tgg	p.R2082W	AK127460_uc002jvt.1_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCCGTTTCCGAGGCACGTCC	0.592000														139			40		0	0	1	0	0
OBP2B	29989	broad.mit.edu	37	9	136083927	136083927	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:136083927C>T	uc004ccz.3	-	1	177	c.135G>A	c.(133-135)agG>agA	p.R45R	OBP2B_uc010nad.3_Non-coding_Transcript|OBP2B_uc011mcy.2_Intron	NM_014581	NP_055396	Q9NPH6	OBP2B_HUMAN	Homo sapiens odorant binding protein 2B (OBP2B), mRNA.	45					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CCTTCCTGGGCCTCCTGTCCT	0.622000														11			11		0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97918838	97918838	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:97918838C>T	uc001klp.3	+	5	3616	c.2759C>T	c.(2758-2760)cCa>cTa	p.P920L	ZNF518A_uc001klo.1_Missense_Mutation_p.P390L|ZNF518A_uc001klq.3_Missense_Mutation_p.P920L|ZNF518A_uc001klr.3_Missense_Mutation_p.P920L	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	920					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATGCAGAGTCCACTTTTAAAT	0.333000														52			5		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743149	26743149	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:26743149G>A	uc001mra.2	-	0	426	c.113C>T	c.(112-114)tCc>tTc	p.S38F	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.4_Missense_Mutation_p.S38F	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	38					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GAACTCTCGGGAAGTTGCCTT	0.498000														38			80		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110420301	110420301	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110420301G>A	uc003yne.3	+	17	1941	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	613					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			GCTTGGTTATGAAGTAGTTGA	0.328000										HNSCC(38;0.096)				27			16		0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83437738	83437738	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83437738C>T	uc002bjd.2	-	8	1614	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	FSD2_uc010uol.1_Missense_Mutation_p.E438K|FSD2_uc010uom.1_Missense_Mutation_p.E438K	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	483	Fibronectin type-III 2.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						ACAGCCTCTTCACAGCTCCTT	0.493000														25			6		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71200008	71200008	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:71200008G>A	uc001xmm.3	-	10	2078	c.2078C>T	c.(2077-2079)tCa>tTa	p.S693L	MAP3K9_uc010ttk.2_Missense_Mutation_p.S421L|MAP3K9_uc001xmk.3_Missense_Mutation_p.S426L|MAP3K9_uc001xml.3_Missense_Mutation_p.S707L	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	693					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ctggctgggtgaatgctgtag	0.552000														24			10		0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82643420	82643420	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:82643420C>T	uc001ozt.3	+	5	1284	c.1040C>T	c.(1039-1041)cCc>cTc	p.P347L	C11orf82_uc010rsr.2_Missense_Mutation_p.P46L|C11orf82_uc010rss.2_Missense_Mutation_p.P46L|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	347					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATGCGAGAGCCCCTTGAGTCA	0.408000														150			44		0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26918769	26918769	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:26918769G>A	uc002hbq.3	-	3	1476	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	462					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)					TCTGGGTGAGGGACAGCCAGC	0.542000														54			35		0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184210648	184210648	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:184210648C>T	uc010irx.3	+	20	3426	c.3244C>T	c.(3244-3246)Cgc>Tgc	p.R1082C	WWC2_uc003ivk.4_Missense_Mutation_p.R877C|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.R764C|WWC2_uc003ivn.4_Missense_Mutation_p.R597C|WWC2_uc010irz.3_Missense_Mutation_p.R423C|WWC2_uc003ivo.4_Missense_Mutation_p.R210C	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	1082										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CCGGCAGAGCCGCCTCAATGA	0.567000														32			8		0	0	1	0	0
BEND5	79656	broad.mit.edu	37	1	49202013	49202013	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:49202013C>T	uc001crx.4	-	4	1050	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc010omy.1_Intron|AGBL4_uc001crv.1_Intron|BEND5_uc001crw.4_Missense_Mutation_p.D167N	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	Homo sapiens BEN domain containing 5 (BEND5), mRNA.	336	BEN.									large_intestine(5)|lung(2)|skin(1)	8						TTCAGAACATCTGTTCCCCAA	0.468000														133			41		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090556	9090556	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9090556G>A	uc002mkp.3	-	0	1463	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	420	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.N419K(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						GGAGTGATGGGTGTTGGTCTC	0.502000														56			21		0	0	1	0	0
ZNF295	49854	broad.mit.edu	37	21	43411770	43411770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43411770G>A	uc021wjo.1	-	0	2435	c.2435C>T	c.(2434-2436)cCc>cTc	p.P812L	ZNF295_uc002yzz.4_Missense_Mutation_p.P611L|ZNF295_uc002zab.4_Missense_Mutation_p.P812L|ZNF295_uc002yzy.4_Missense_Mutation_p.P812L|ZNF295_uc002zaa.4_Missense_Mutation_p.P812L	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	812					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						GTCCAAAACGGGCAAAGAAAA	0.502000														93			42		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48266576	48266576	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48266576G>A	uc002iqm.3	-	39	3016	c.2890C>T	c.(2890-2892)Cct>Tct	p.P964S		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	964	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.P964P(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTCTGACCAGGCAGGCCGACC	0.617000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							30			5		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200967678	200967679	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:200967678_200967679GG>AA	uc001gvs.2	-	13	2227_2228	c.1910_1911CC>TT	c.(1909-1911)gcc>gTT	p.A637V	KIF21B_uc009wzl.2_Missense_Mutation_p.A637V|KIF21B_uc001gvr.2_Missense_Mutation_p.A637V|KIF21B_uc010ppn.2_Missense_Mutation_p.A637V	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	637					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AAGTCAGGTCGGCCAGGTCCGC	0.589000														63			28		0	0	1	0	0
PRAMEF8	391002	broad.mit.edu	37	1	12979735	12979735	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12979735G>A	uc001aup.3	+	3	1010	c.927G>A	c.(925-927)ttG>ttA	p.L309L		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	309												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGTCGGACTTGAAGCATCTCT	0.567000														138			14		0	0	1	0	0
NOMO3	408050	broad.mit.edu	37	16	16349589	16349589	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:16349589G>A	uc002dep.3	+	9	1111	c.976G>A	c.(976-978)Gtc>Atc	p.V326I	NOMO3_uc010bvp.2_Missense_Mutation_p.V159I|NOMO3_uc002deq.3_Missense_Mutation_p.V326I	NM_001004067	NP_001004067	P69849	NOMO3_HUMAN	Homo sapiens NODAL modulator 3 (NOMO3), mRNA.	326						integral to membrane	carbohydrate binding|carboxypeptidase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CGTGTTCCACGTCATGGGATT	0.557000														55			20		0	0	1	0	0
CATSPER3	347732	broad.mit.edu	37	5	134343727	134343727	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:134343727C>T	uc003lag.3	+	3	659	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	Homo sapiens cation channel, sperm associated 3 (CATSPER3), mRNA.	191					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTACATCTTCGCTATCTTGG	0.557000														86			28		0	0	1	0	0
GOT2	2806	broad.mit.edu	37	16	58757655	58757655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:58757655G>A	uc002eof.1	-	1	355	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	GOT2_uc010vim.1_Missense_Mutation_p.R81C	NM_002080	NP_002071	P00505	AATM_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA.	81					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTCACCTTGCGGACGCTAGGC	0.498000														204			20		0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840283	128840283	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:128840283G>A	uc009zcp.3	-	21	4783	c.4783C>T	c.(4783-4785)Cgc>Tgc	p.R1595C	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.R554C|ARHGAP32_uc001qez.3_Missense_Mutation_p.R1246C	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1595	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGAACAGAGCGAATCATGGAA	0.542000														43			20		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120732746	120732746	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:120732746C>T	uc001pxn.2	+	8	1110	c.823C>T	c.(823-825)Cat>Tat	p.H275Y	GRIK4_uc009zav.1_Missense_Mutation_p.H275Y|GRIK4_uc009zaw.1_Missense_Mutation_p.H275Y|GRIK4_uc009zax.1_Missense_Mutation_p.H275Y	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	275					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CAACCAATCCCATGCTTTCTT	0.522000														211			89		0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016596	27016596	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:27016596G>A	uc001mrd.3	+	0	969	c.523G>A	c.(523-525)Gag>Aag	p.E175K		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	175						Golgi apparatus|extracellular region		p.K174N(1)		breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CCTGCTGAAGGAGACACTGGA	0.572000														63			27		0	0	1	0	0
CALU	813	broad.mit.edu	37	7	128388731	128388731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128388731C>T	uc022ald.1	+	2	1061	c.118C>T	c.(118-120)Cct>Tct	p.P40S	CALU_uc022alg.1_5'UTR|CALU_uc022alh.1_5'UTR|CALU_uc022ali.1_5'UTR|CALU_uc003vns.3_Missense_Mutation_p.P32S|CALU_uc003vnr.3_Missense_Mutation_p.P40S|CALU_uc003vnq.3_Missense_Mutation_p.P32S|CALU_uc022ale.1_Missense_Mutation_p.P32S|CALU_uc022alf.1_Intron	NM_001199672	NP_001186601	O43852	CALU_HUMAN	Homo sapiens calumenin (CALU), transcript variant 4, mRNA.	32					platelet activation|platelet degranulation	Golgi apparatus|extracellular region|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						ACATCATGAGCCTCAGCTCAG	0.468000														82			37		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141779	29141779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29141779C>T	uc011dlm.2	+	0	469	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	123					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						GTCATATGATCGTTATGTAGC	0.448000														255			94		0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159831822	159831822	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:159831822G>A	uc003lyg.3	-	13	1613	c.1458C>T	c.(1456-1458)ctC>ctT	p.L486L		NM_006425	NP_006416	O95391	SLU7_HUMAN	Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA.	486					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTACCTCCATGAGGGTTTGAG	0.363000														45			4		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123298188	123298188	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:123298188G>A	uc021pzz.1	-	5	1313	c.666C>T	c.(664-666)gtC>gtT	p.V222V	FGFR2_uc021pzv.1_Silent_p.V222V|FGFR2_uc021pzw.1_Silent_p.V107V|FGFR2_uc021pzx.1_Silent_p.V133V|FGFR2_uc021pzy.1_Silent_p.V222V|FGFR2_uc010qtl.2_Silent_p.V222V|FGFR2_uc010qtm.2_Silent_p.V107V|FGFR2_uc021qaa.1_Silent_p.V222V|FGFR2_uc021qab.1_Silent_p.V133V|FGFR2_uc021qac.1_Silent_p.V152V|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Silent_p.V241V|FGFR2_uc010qto.2_Silent_p.V126V|FGFR2_uc001lfo.1_Silent_p.V241V|FGFR2_uc010qtp.2_Silent_p.V241V|FGFR2_uc010qtq.2_Silent_p.V241V	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	222	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)	TGTCAGATGGGACCACACTTT	0.453000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					93			10		0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115590997	115590997	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:115590997C>T	uc003vhj.2	-	5	699	c.446G>A	c.(445-447)aGa>aAa	p.R149K	TFEC_uc003vhm.2_Missense_Mutation_p.R82K|TFEC_uc003vhk.2_Missense_Mutation_p.R120K|TFEC_uc003vhl.4_Missense_Mutation_p.R120K|TFEC_uc011kmw.2_Missense_Mutation_p.R239K	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	149	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CCTTCTTCTTCTTTCAACTAT	0.284000														40			14		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13735969	13735969	+	Missense_Mutation	SNP	G	A	A	rs78346432		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13735969G>A	uc003jfd.2	-	66	11570	c.11528C>T	c.(11527-11529)tCg>tTg	p.S3843L	DNAH5_uc003jfc.2_Missense_Mutation_p.S11L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3843			S -> L (in CILD3).		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)					CTGGCGAAGCGAAGTCTGATA	0.478000									Kartagener syndrome					94			38		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41459131	41459131	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41459131C>T	uc002yyq.1	-	21	4386	c.3934G>A	c.(3934-3936)Gac>Aac	p.D1312N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1312	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGAGAAGGGTCCCCAACAGCC	0.463000														68			27		0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4776692	4776692	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:4776692G>A	uc002cxj.2	-	4	754	c.459C>T	c.(457-459)ttC>ttT	p.F153F	ANKS3_uc002cxi.2_Silent_p.F80F|ANKS3_uc021tcj.1_Silent_p.F24F|ANKS3_uc021tck.1_Intron|ANKS3_uc002cxk.3_Silent_p.F24F|ANKS3_uc010uxs.2_Silent_p.F80F|ANKS3_uc002cxm.3_Intron	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	153										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TGTCCAAGAGGAACCTGACCA	0.552000														44			27		0	0	1	0	0
KATNAL1	84056	broad.mit.edu	37	13	30801654	30801654	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:30801654G>A	uc001uss.3	-	8	1143	c.1042C>T	c.(1042-1044)Cct>Tct	p.P348S	KATNAL1_uc001ust.3_Missense_Mutation_p.P348S	NM_001014380	NP_115492	Q9BW62	KATL1_HUMAN	Homo sapiens katanin p60 subunit A-like 1 (KATNAL1), transcript variant 2, mRNA.	348						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		ATTTTGGAAGGATCATCATTT	0.358000														82			10		0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34699853	34699853	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:34699853C>T	uc002nvb.4	+	3	631	c.435C>T	c.(433-435)tcC>tcT	p.S145S	LSM14A_uc002nva.4_Silent_p.S145S|LSM14A_uc010xru.2_Intron|LSM14A_uc002nvc.4_5'UTR	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	145					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CTTTGACATCCTTTGGAACAG	0.328000														27			8		0	0	1	0	0
MBD3	53615	broad.mit.edu	37	19	1581114	1581114	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:1581114G>A	uc002ltj.3	-	4	676	c.654C>T	c.(652-654)ttC>ttT	p.F218F	MBD3_uc002ltk.3_Silent_p.F186F|MBD3_uc002ltl.1_Silent_p.F218F	NM_003926	NP_003917	O95983	MBD3_HUMAN	Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA.	218					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTCACCATGAAGGCTTTGC	0.647000														42			11		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124317829	124317829	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124317829G>C	uc001uft.4	+	25	4385	c.4360G>C	c.(4360-4362)Ggg>Cgg	p.G1454R		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1454	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGATTTGTGGGGCCTTTTCT	0.433000														31			3		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139727966	139727966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:139727966C>T	uc003yvd.3	-	29	2923	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	COL22A1_uc011ljo.2_Missense_Mutation_p.E126K	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	826	Collagen-like 6.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G825fs*8(1)|p.G825C(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGTCCCAGTTCACCTTTTTCT	0.388000										HNSCC(7;0.00092)				107			29		0	0	1	0	0
FNDC4	64838	broad.mit.edu	37	2	27716878	27716878	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27716878C>T	uc002rkx.3	-	3	779	c.373G>A	c.(373-375)Gga>Aga	p.G125R	GCKR_uc002rky.3_5'Flank|GCKR_uc010ezd.3_5'Flank|GCKR_uc010ylu.2_5'Flank	NM_022823	NP_073734	Q9H6D8	FNDC4_HUMAN	Homo sapiens fibronectin type III domain containing 4 (FNDC4), mRNA.	125	Fibronectin type-III.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGACTCTCTCCCCGAAGGCCG	0.607000														85			17		0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5020937	5020937	+	Silent	SNP	G	A	A	rs142184899	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:5020937G>A	uc001qnh.3	+	1	1498	c.393G>A	c.(391-393)cgG>cgA	p.R131R	KCNA1_uc021qts.1_Silent_p.R131R	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	131					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGAAGTTCCGGGAGGACGAGG	0.652000														65			40		0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38137471	38137471	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:38137471C>T	uc001uwo.4	-	22	2628	c.2510G>A	c.(2509-2511)tGa>tAa	p.*837*	POSTN_uc010tet.2_Silent_p.*338*|POSTN_uc001uwp.4_Silent_p.*780*|POSTN_uc001uwr.3_Silent_p.*782*|POSTN_uc001uwq.3_Silent_p.*752*	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	0					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTTGGATTTTCACTGAGAACG	0.323000														41			21		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080819	54080819	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54080819C>T	uc002qbx.1	+	6	2439	c.1005C>T	c.(1003-1005)gcC>gcT	p.A335A	ZNF331_uc002qby.1_Silent_p.A335A|ZNF331_uc002qbz.1_Silent_p.A335A|ZNF331_uc010eqr.1_Silent_p.A335A|ZNF331_uc002qca.1_Silent_p.A335A|ZNF331_uc021uzg.1_Silent_p.A335A|ZNF331_uc021uzh.1_Silent_p.A335A|ZNF331_uc002qcb.1_Silent_p.A335A|ZNF331_uc002qcc.1_Silent_p.A335A|ZNF331_uc002qcd.1_Silent_p.A335A	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GTGGGAAGGCCTTTCGCTGGG	0.512000			T	?	follicular thyroid adenoma									53			19		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124591827	124591827	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124591827T>C	uc001lgs.3	-	10	2742	c.1791A>G	c.(1789-1791)gcA>gcG	p.A597A	CUZD1_uc001lgp.3_Silent_p.A316A|CUZD1_uc009yad.3_Silent_p.A316A|CUZD1_uc009yaf.3_Silent_p.A231A|CUZD1_uc001lgr.3_Silent_p.A316A|CUZD1_uc010qty.2_Silent_p.A316A|CUZD1_uc009yae.3_Silent_p.A316A|CUZD1_uc010qtz.2_Silent_p.A597A	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	597					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		ATTTGTAGTCTGCCCGTTGAT	0.448000														215			21		0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49726605	49726605	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:49726605G>A	uc002itv.4	-	6	1326	c.590C>T	c.(589-591)tCa>tTa	p.S197L	CA10_uc002itw.4_Missense_Mutation_p.S191L|CA10_uc002itx.4_Missense_Mutation_p.S191L|CA10_uc002ity.4_Missense_Mutation_p.S191L|CA10_uc002itz.2_Missense_Mutation_p.S191L	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	191					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TGGGTTTGATGAATCAGAAAC	0.358000														60			26		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92495284	92495284	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92495284G>A	uc001pdj.4	+	3	3949	c.3932G>A	c.(3931-3933)gGg>gAg	p.G1311E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1311	Cadherin 12.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTAAAACTGGGATGGTTTCT	0.453000										TCGA Ovarian(4;0.039)				75			13		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118969759	118969759	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:118969759G>A	uc004bjn.3	+	2	1884	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	PAPPA_uc011lxp.1_Silent_p.L294L|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	501	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						TTAATGAGCTGAAGAACATTC	0.413000														72			22		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130292831	130292832	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130292831_130292832CC>TT	uc010htl.3	+	6	3040_3041	c.3009_3010CC>TT	c.(3007-3012)ttcctt>ttTTtt	p.L1004F		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1004	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATCTTGTTTTCCTTATGGATGG	0.361000														33			11		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29002037	29002037	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29002037C>T	uc001usb.3	-	8	1413	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	FLT1_uc010aar.1_Silent_p.A376A|FLT1_uc001usc.3_Silent_p.A376A|FLT1_uc010tdp.1_Silent_p.A376A	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	376	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ATTTCTCAGTCGCAGGTAACC	0.398000														100			27		0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44804027	44804027	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44804027C>T	uc003tlr.3	+	13	1993	c.1870C>T	c.(1870-1872)Ctg>Ttg	p.L624L	ZMIZ2_uc003tlq.3_Silent_p.L566L|ZMIZ2_uc003tls.3_Silent_p.L598L|ZMIZ2_uc003tlt.3_Silent_p.L247L|ZMIZ2_uc010kyj.3_Silent_p.L146L|ZMIZ2_uc003tlu.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	624					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GTGCTTTGACCTGGAGTCGTA	0.527000														53			18		0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150276484	150276484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:150276484G>A	uc021yfx.1	-	6	793	c.365C>T	c.(364-366)tCc>tTc	p.S122F	ZNF300_uc021yfy.1_Missense_Mutation_p.S106F|ZNF300_uc021yfz.1_Missense_Mutation_p.S70F	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGATGGAAGGAAACTGTCCC	0.388000														83			17		0	0	1	0	0
CARKD	55739	broad.mit.edu	37	13	111277611	111277611	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:111277611C>T	uc001vrc.3	+	3	463	c.372C>T	c.(370-372)atC>atT	p.I124I	CARKD_uc010tji.2_Intron|CARKD_uc010tjj.2_Silent_p.I106I|CARKD_uc001vqz.3_Non-coding_Transcript|CARKD_uc001vra.3_Intron|CARKD_uc010tjk.2_Intron|CARKD_uc010tjl.2_Intron|CARKD_uc001vrb.3_Silent_p.I124I	NM_018210	NP_060680	Q8IW45	CARKD_HUMAN	Homo sapiens carbohydrate kinase domain containing (CARKD), transcript variant 1, mRNA.	124	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						CGGAGCTGATCGTCCACCCAG	0.592000														31			8		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57522848	57522848	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:57522848G>A	uc011kdi.1	+	2	348	c.236G>A	c.(235-237)aGa>aAa	p.R79K		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AATATAAAGAGAAATGAGATG	0.398000														125			21		0	0	1	0	0
ZNF579	163033	broad.mit.edu	37	19	56090216	56090216	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56090216G>A	uc002qlh.3	-	1	843	c.790C>T	c.(790-792)Ccg>Tcg	p.P264S	ZNF579_uc021vby.1_Missense_Mutation_p.P264S	NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	Homo sapiens zinc finger protein 579 (ZNF579), mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GGGCGTGGCGGGGGCCCCCCT	0.721000														15			4		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50553013	50553013	+	Missense_Mutation	SNP	C	T	T	rs149927638	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50553013C>T	uc003bjj.3	+	6	1171	c.1088C>T	c.(1087-1089)tCg>tTg	p.S363L	MOV10L1_uc003bjk.4_Missense_Mutation_p.S363L|MOV10L1_uc011arp.2_Missense_Mutation_p.S343L|MOV10L1_uc011arq.1_Missense_Mutation_p.S124L|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	363					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TCTCAGATGTCGGAGAGCAGT	0.473000														65			16		0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175110674	175110674	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:175110674C>T	uc003mdc.4	+	1	1082	c.438C>T	c.(436-438)tcC>tcT	p.S146S	HRH2_uc003mdd.2_Silent_p.S146S	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	146					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GGGTCATCTCCATTACCCTGT	0.557000														43			18		0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100504670	100504670	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:100504670G>A	uc011cej.2	+	2	483	c.470G>A	c.(469-471)gGa>gAa	p.G157E	MTTP_uc003hvc.4_Missense_Mutation_p.G130E|MTTP_uc003hvb.3_Missense_Mutation_p.G130E	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	130	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CTAATCCATGGAAAGGTAAAG	0.378000														63			21		0	0	1	0	0
BEX5	340542	broad.mit.edu	37	X	101409099	101409099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:101409099C>T	uc022cat.1	-	0	139	c.139G>A	c.(139-141)Gga>Aga	p.G47R	BEX5_uc010nnz.3_Missense_Mutation_p.G47R|BEX5_uc004eir.3_Missense_Mutation_p.G47R	NM_001159560	NP_001153032	Q5H9J7	BEX5_HUMAN	Homo sapiens brain expressed, X-linked 5 (BEX5), transcript variant 2, mRNA.	47						cytoplasm				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						ACATCCTCTCCAAAACCCGGG	0.517000														35			42		0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27689131	27689131	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:27689131G>A	uc003szf.3	-	1	426	c.213C>T	c.(211-213)ttC>ttT	p.F71F	HIBADH_uc003szg.3_Silent_p.F22F|HIBADH_uc003szi.3_Silent_p.F22F	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	71					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	AGGCATCAGGGAACACATCAT	0.363000														43			22		0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44590866	44590866	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44590866C>T	uc002oyg.1	+	4	1451	c.1235C>T	c.(1234-1236)tCa>tTa	p.S412L	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	Homo sapiens zinc finger protein 284 (ZNF284), mRNA.	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TATATGAATTCACAGGGCCAT	0.433000														137			58		0	0	1	0	0
SPAG7	9552	broad.mit.edu	37	17	4864089	4864089	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:4864089G>A	uc002gae.3	-	1	178	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	SPAG7_uc002gaf.3_Missense_Mutation_p.R49C	NM_004890	NP_004881	O75391	SPAG7_HUMAN	Homo sapiens sperm associated antigen 7 (SPAG7), mRNA.	49	R3H.					nucleus	nucleic acid binding|protein binding	p.R49H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						ACCCTTTTACGAAACTCCACT	0.468000														57			27		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874038	36874038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36874038C>T	uc003cgj.3	-	20	7152	c.6904G>A	c.(6904-6906)Gag>Aag	p.E2302K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2302					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTTTCAAACTCCTCCGGGTAG	0.527000														59			27		0	0	1	0	0
TGIF2	60436	broad.mit.edu	37	20	35219337	35219337	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:35219337C>T	uc021wcv.1	+	2	431	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	TGIF2_uc021wcu.1_Missense_Mutation_p.R73W|TGIF2_uc002xfn.3_Missense_Mutation_p.R73W|TGIF2_uc021wcw.1_Missense_Mutation_p.R73W|TGIF2_uc002xfo.3_Intron	NM_001199514	NP_001186443	Q9GZN2	TGIF2_HUMAN	Homo sapiens TGFB-induced factor homeobox 2 (TGIF2), transcript variant 1, mRNA.	73						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CATCAATGCCCGGCGGCGGCT	0.522000														348			41		0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102250508	102250508	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:102250508G>A	uc001vpb.3	+	6	1093	c.874G>A	c.(874-876)Gga>Aga	p.G292R	ITGBL1_uc010agb.3_Missense_Mutation_p.G243R|ITGBL1_uc001vpc.4_Missense_Mutation_p.G151R	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	292	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.G292*(2)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGAAGGTCATGGACAGTGTAA	0.428000														81			26		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39022673	39022673	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39022673C>T	uc003xmt.4	+	8	1036	c.791C>T	c.(790-792)tCt>tTt	p.S264F	ADAM32_uc011lch.2_Missense_Mutation_p.S271F|ADAM32_uc003xmu.4_Missense_Mutation_p.S264F	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	264	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGGAAACAATCTTATCTTAAC	0.308000														38			19		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49459669	49459669	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:49459669C>T	uc001jgi.3	-	1	422	c.91G>A	c.(91-93)Gag>Aag	p.E31K	FRMPD2_uc001jgh.3_Missense_Mutation_p.E22K|FRMPD2_uc001jgj.3_Missense_Mutation_p.E22K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	31	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			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)		CAGATTTCCTCCTCAGACAGA	0.577000														73			5		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12639525	12639525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:12639525G>A	uc002gno.2	+	5	762	c.463G>A	c.(463-465)Gag>Aag	p.E155K	MYOCD_uc002gnn.2_Missense_Mutation_p.E155K|MYOCD_uc002gnp.1_Missense_Mutation_p.E59K	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	155	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGCCTTTGAAGAGGACAGCAG	0.547000														130			88		0	0	1	0	0
CORO1A	11151	broad.mit.edu	37	16	30199825	30199825	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30199825G>A	uc010bzq.3	+	10	1644	c.1209G>A	c.(1207-1209)gaG>gaA	p.E403E	BOLA2_uc010bzb.1_Intron|CORO1A_uc002dww.3_Silent_p.E403E|CORO1A_uc002dwx.3_Silent_p.E297E|CORO1A_uc002dwy.1_3'UTR|CORO1A_uc002dwz.1_5'Flank	NM_001193333	NP_009005	P31146	COR1A_HUMAN	Homo sapiens coronin, actin binding protein, 1A (CORO1A), transcript variant 1, mRNA.	403					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						AGAGCCGGGAGCTGAGGGTCA	0.682000														38			20		0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97810277	97810277	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:97810277C>T	uc010yva.2	+	8	1168	c.924C>T	c.(922-924)gcC>gcT	p.A308A	ANKRD36_uc021vlk.1_Silent_p.A274A|ANKRD36_uc010yuz.1_Non-coding_Transcript|ANKRD36_uc010fic.2_Silent_p.A27A|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Non-coding_Transcript	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	308										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AACAACCGGCCTTGAAGGTAT	0.318000														29			9		0	0	1	0	0
RNFT2	84900	broad.mit.edu	37	12	117271695	117271695	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117271695C>T	uc009zwn.3	+	7	1214	c.981C>T	c.(979-981)tcC>tcT	p.S327S	RNFT2_uc001twb.4_Silent_p.S327S|RNFT2_uc001twa.4_Silent_p.S237S|RNFT2_uc001twc.4_Silent_p.S75S	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA.	327						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		ACGACTCCTCCAACAGCTACT	0.582000														24			8		0	0	1	0	0
DDX58	23586	broad.mit.edu	37	9	32493803	32493803	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:32493803G>A	uc003zra.3	-	2	537	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L	DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mjk.1_Silent_p.L82L|DDX58_uc011lnr.1_5'UTR|DDX58_uc010mji.3_Silent_p.L56L	NM_014314	NP_055129	O95786	DDX58_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.	127	CARD 2.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	p.L127L(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CATTCAGACAGATCAGAAATG	0.284000														45			9		0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39994874	39994874	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39994874C>T	uc002olx.2	+	4	874	c.816C>T	c.(814-816)gtC>gtT	p.V272V	DLL3_uc010egq.3_Silent_p.V272V|DLL3_uc002olw.2_Silent_p.V272V	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA.	272					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GATGCCTTGTCCCTGGGCCTG	0.642000														50			22		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167301376	167301376	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:167301376C>T	uc002udu.2	-	11	1652	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	508					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGGAAAAGATCAGTAAATGGT	0.328000														31			12		0	0	1	0	0
PLA2G2D	26279	broad.mit.edu	37	1	20440676	20440676	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:20440676C>T	uc001bcz.3	-	3	386	c.369G>A	c.(367-369)ctG>ctA	p.L123L	PLA2G2D_uc009vpo.3_Non-coding_Transcript	NM_012400	NP_036532	Q9UNK4	PA2GD_HUMAN	Homo sapiens phospholipase A2, group IID (PLA2G2D), mRNA.	123					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGTAGGTGTCCAGGTTGCGCT	0.622000										Multiple Myeloma(11;0.12)				51			16		0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1940297	1940297	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:1940297C>T	uc001qjt.2	+	3	1070	c.264C>T	c.(262-264)ttC>ttT	p.F88F	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Silent_p.F88F|LRTM2_uc010sdx.1_Silent_p.F88F|LRTM2_uc001qjv.2_Intron	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	88						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCTGGGCTTTCGCCAACCTCT	0.622000														125			7		0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39637034	39637034	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39637034C>T	uc002hws.3	-	0	359	c.316G>A	c.(316-318)Gac>Aac	p.D106N		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	106	Coil 1A.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GCCAGGCGGTCGTTCAGGGAT	0.637000														48			50		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118228010	118228010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:118228010C>T	uc004era.4	-	8	1316	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	439										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTGCAGGGATCCCTCTAAAAT	0.473000														20			24		0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64622825	64622825	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64622825G>A	uc010rnq.1	-	4	1138	c.1091C>T	c.(1090-1092)cCt>cTt	p.P364L	EHD1_uc021qkz.1_Missense_Mutation_p.P33L|EHD1_uc001obu.1_Missense_Mutation_p.P350L|EHD1_uc001obv.1_Missense_Mutation_p.P350L	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	350					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GAAGTCCCCAGGGGAGATCTG	0.582000											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		59			25		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134991144	134991144	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:134991144C>T	uc004ezh.3	+	12	1730	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	SAGE1_uc010nry.1_Silent_p.S490S|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	521										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GTATTCCATCCATGAGTACCA	0.403000														23			39		0	0	1	0	0
TMEM50A	23585	broad.mit.edu	37	1	25666982	25666982	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:25666982C>T	uc001bke.3	+	1	177	c.5C>T	c.(4-6)tCt>tTt	p.S2F	C1orf63_uc021ojj.1_5'Flank|TMEM50A_uc010oeq.2_Missense_Mutation_p.S2F|TMEM50A_uc009vrr.3_Intron|TMEM50A_uc009vrs.3_Intron	NM_014313	NP_055128	O95807	TM50A_HUMAN	Homo sapiens transmembrane protein 50A (TMEM50A), mRNA.	2						endoplasmic reticulum|integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		AAAAAAATGTCTGGATTTCTA	0.368000														73			7		0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2498891	2498891	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2498891C>T	uc002cqd.1	+	10	1218	c.1130C>T	c.(1129-1131)gCc>gTc	p.A377V	CCNF_uc002cqe.1_Missense_Mutation_p.A69V	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	377	Cyclin N-terminal.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination	SCF ubiquitin ligase complex|centriole|nucleus	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ATCCGGGAGGCCGTATGGCTC	0.587000														110			34		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105525	168105525	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:168105525G>A	uc002udx.3	+	8	7712	c.7623G>A	c.(7621-7623)aaG>aaA	p.K2541K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.K2366K|XIRP2_uc010fpq.3_Silent_p.K2319K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2366					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAATTTAAGACACCTTTAA	0.318000														125			43		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7401451	7401451	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7401451C>T	uc002ghf.4	+	7	1643	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	POLR2A_uc002ghe.3_Silent_p.I419I	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	419					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCAAGTACATCATCCGAGACA	0.537000														47			32		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47241496	47241497	+	Missense_Mutation	DNP	CC	TT	TT	rs145043273		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:47241496_47241497CC>TT	uc002ion.2	+	7	1052_1053	c.993_994CC>TT	c.(991-996)ctccgc>ctTTgc	p.R332C	B4GALNT2_uc010wlt.1_Missense_Mutation_p.R246C|B4GALNT2_uc010wlu.1_Missense_Mutation_p.R272C	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	332					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			AGACTTTCCTCCGCCCCCACAA	0.505000														189			43		0	0	1	0	0
OR8U8	504189	broad.mit.edu	37	11	56143959	56143959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56143959C>T	uc001nit.2	+	0	860	c.860C>T	c.(859-861)cCc>cTc	p.P287L		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										ATGTTGAATCCCTTAATCTAT	0.373000														214			17		0	0	1	0	0
LOC728819	728819	broad.mit.edu	37	2	43902632	43902632	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:43902632C>T	uc010fav.1	-	0	830	c.830G>A	c.(829-831)gGa>gAa	p.G277E	PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.2_Intron	NM_001101330	NP_001094800			Homo sapiens hCG1645220 (LOC728819), mRNA.														all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGGGGTCAGTCCATTGAAAGT	0.433000														51			13		0	0	1	0	0
ZNF295	49854	broad.mit.edu	37	21	43413171	43413171	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43413171G>A	uc021wjo.1	-	0	1034	c.1034C>T	c.(1033-1035)tCg>tTg	p.S345L	ZNF295_uc002yzz.4_Missense_Mutation_p.S345L|ZNF295_uc002zab.4_Missense_Mutation_p.S345L|ZNF295_uc002yzy.4_Missense_Mutation_p.S345L|ZNF295_uc002zaa.4_Missense_Mutation_p.S345L|ZNF295_uc010gov.1_Missense_Mutation_p.S345L|ZNF295_uc002zac.2_Missense_Mutation_p.S345L	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	345					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						GCTATCCATCGACAATGACCG	0.478000														52			25		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72234479	72234479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:72234479G>A	uc003xyu.3	-	4	867	c.227C>T	c.(226-228)cCa>cTa	p.P76L	EYA1_uc003xyt.4_Missense_Mutation_p.P43L|EYA1_uc003xyr.4_Missense_Mutation_p.P76L|EYA1_uc010lzf.3_5'UTR|EYA1_uc003xys.4_Missense_Mutation_p.P76L|EYA1_uc011lfe.2_Missense_Mutation_p.P76L|EYA1_uc003xyv.3_5'UTR	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	76					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGTTGGTCGTGGGCTGAAACT	0.343000														63			18		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831800	61831800	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61831800G>A	uc001jky.3	-	36	9177	c.8839C>T	c.(8839-8841)Cag>Tag	p.Q2947*	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.	2947					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						CTGGAAGGCTGATCAAGCAAT	0.443000														71			30		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111540184	111540184	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:111540184C>T	uc003kpv.1	-	15	1537	c.1263_splice	c.e15-1	p.S421_splice	EPB41L4A_uc003kpp.1_Splice_Site_p.S48_splice	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	421						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)		TTGTAGAGTCCACTGGAGAGA	0.507000														72			35		0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	36979297	36979297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36979297C>T	uc002xic.1	+	2	358	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	108					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ATCTCCGACTCCTCCATCCGG	0.612000														69			29		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33703274	33703274	+	Missense_Mutation	SNP	G	A	A	rs143961677	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:33703274G>A	uc001uuw.3	-	4	1666	c.1540C>T	c.(1540-1542)Cat>Tat	p.H514Y	STARD13_uc001uuu.3_Missense_Mutation_p.H506Y|STARD13_uc001uuv.3_Missense_Mutation_p.H396Y|STARD13_uc001uux.3_Missense_Mutation_p.H479Y|STARD13_uc010abh.1_Missense_Mutation_p.H499Y|STARD13_uc021rhz.1_Missense_Mutation_p.H506Y|STARD13_uc021ria.1_Missense_Mutation_p.H396Y	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	514					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AATGTATCATGAGTTTGCAGT	0.468000														74			27		0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72967122	72967122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:72967122C>T	uc004ahr.2	+	24	3298	c.3181C>T	c.(3181-3183)Cct>Tct	p.P1061S	SMC5_uc011lry.1_Missense_Mutation_p.P206S	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	1061					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GCAAAATCTTCCTTATTCTGA	0.378000														96			37		0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121188021	121188021	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:121188021G>A	uc003kss.3	+	0	372	c.363G>A	c.(361-363)gaG>gaA	p.E121E		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	121	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.R120Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		AGTCCCGGGAGGAGACCGAGC	0.572000														57			18		0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	156956528	156956528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:156956528C>T	uc010lqs.3	+	1	403	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	UBE3C_uc003wnf.2_Intron|UBE3C_uc003wng.2_Missense_Mutation_p.R31C	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	31	Cis-determinant of acceptor ubiquitin- binding.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCTTTTACATCGTACTCAGGA	0.328000														75			30		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79454396	79454396	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:79454396T>G	uc001xun.3	+	11	2546	c.2055T>G	c.(2053-2055)tgT>tgG	p.C685W	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.C810W	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAGATTCATGTGCCAACCAGG	0.433000														62			28		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815707	158815707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158815707G>A	uc001fsz.1	+	4	1101	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	301	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAGAATTATCGAAATAGCAAA	0.338000														92			39		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834595	61834595	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61834595C>T	uc001jky.3	-	36	6382	c.6044G>A	c.(6043-6045)aGa>aAa	p.R2015K	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.	2015					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						TACTTGCACTCTCTCTGGCAG	0.443000														115			26		0	0	1	0	0
RIMS3	9783	broad.mit.edu	37	1	41101655	41101655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:41101655G>A	uc001cfu.1	-	3	757	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	RIMS3_uc001cfv.1_Missense_Mutation_p.R98W	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA.	98					neurotransmitter transport	cell junction|synapse		p.R98W(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CGTGTGACCCGGCTCCGCATC	0.682000														50			21		0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2869055	2869055	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:2869055C>T	uc001lwn.3	+	15	1961	c.1853C>T	c.(1852-1854)tCc>tTc	p.S618F	KCNQ1_uc001lwo.3_Missense_Mutation_p.S491F	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	618	Subunits assembly domain.				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CAGCTGCTCTCCTTGCACGGT	0.692000														5			4		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91795141	91795141	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:91795141C>T	uc002bqv.3	+	3	1435	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	SV2B_uc002bqt.3_Silent_p.L182L|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.L31L	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	182					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CAGCATGTCTCTGGCCGTCAA	0.562000														155			11		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637430	248637430	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248637430C>T	uc001iel.1	+	0	779	c.779C>T	c.(778-780)tCc>tTc	p.S260F		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S260S(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			TTCGGTGCTTCCTTCTACACC	0.557000														363			103		0	0	1	0	0
IGFL3	388555	broad.mit.edu	37	19	46627344	46627344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46627344G>A	uc002pea.1	-	2	174	c.149C>T	c.(148-150)cCt>cTt	p.P50L		NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN	Homo sapiens IGF-like family member 3 (IGFL3), mRNA.	50						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		CTGCTCTGAAGGGTTGTAGAT	0.557000														104			44		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216348787	216348787	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:216348787G>A	uc001hku.1	-	20	4821	c.4434C>T	c.(4432-4434)atC>atT	p.I1478I	USH2A_uc001hkv.3_Silent_p.I1478I	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1478					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)		TTGTGCTGTTGATTCCTTTAA	0.418000										HNSCC(13;0.011)				49			17		0	0	1	0	0
LOC401127	401127	broad.mit.edu	37	4	39482942	39482942	+	RNA	SNP	A	C	C	rs10010309	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:39482942A>C	uc011byn.2	+	0		c.1068A>C								Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA.																		ACATCTGGAAACTTCAGACGA	0.453000														71			6		0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6422854	6422854	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6422854C>T	uc001qnr.3	+	2	346	c.198C>T	c.(196-198)gcC>gcT	p.A66A	PLEKHG6_uc001qns.3_Silent_p.A66A|PLEKHG6_uc010sew.2_Silent_p.A66A|PLEKHG6_uc010sex.2_Silent_p.A34A	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	66					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CTGGCCAGGCCCGAGGCCTGT	0.642000														66			30		0	0	1	0	0
DOK4	55715	broad.mit.edu	37	16	57507918	57507918	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:57507918G>A	uc010cdb.3	-	5	893	c.633C>T	c.(631-633)ttC>ttT	p.F211F	DOK4_uc002elv.4_Silent_p.F211F	NM_018110	NP_060580	Q8TEW6	DOK4_HUMAN	Homo sapiens docking protein 4 (DOK4), mRNA.	211	IRS-type PTB.						insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						CTTGTGTCTGGAAGGTATAGA	0.572000														70			10		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100268916	100268916	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:100268916C>T	uc021xqi.1	-	1		c.191G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	ATGCGAACTTCATGAGCCTTA	0.338000														57			22		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40944474	40944474	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:40944474G>A	uc002xkg.3	-	11	2212	c.2028C>T	c.(2026-2028)acC>acT	p.T676T	PTPRT_uc010ggj.3_Silent_p.T676T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	676	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TAAATGGCTGGGTGACAGGCA	0.517000														90			52		0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47650329	47650329	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:47650329C>T	uc010jzj.1	+	5	2035	c.2034C>T	c.(2032-2034)ttC>ttT	p.F678F	GPR111_uc003oyy.3_Silent_p.F610F	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	678					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCCTGGCCTTCCACATTATCT	0.478000														49			20		0	0	1	0	0
USO1	8615	broad.mit.edu	37	4	76650013	76650013	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:76650013C>A	uc003hiu.3	+	0	185	c.10C>A	c.(10-12)Ctc>Atc	p.L4I	AK311578_uc010iiy.3_5'Flank	NM_003715	NP_003706	O60763	USO1_HUMAN	Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA.	4	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	Golgi membrane|cytosol	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATGAATTTCCTCCGCGGGGT	0.642000														41			6		0.00307968	0.00308185	1	1	0
PSME4	23198	broad.mit.edu	37	2	54159124	54159124	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:54159124A>G	uc002rxp.2	-	9	1220	c.1164T>C	c.(1162-1164)ctT>ctC	p.L388L	PSME4_uc010yop.1_Silent_p.L274L|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Silent_p.L373L	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	388					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTTGATCAGTAAGCTTGTGGC	0.443000														54			30		0	0	1	0	0
ZNF563	147837	broad.mit.edu	37	19	12429458	12429458	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12429458G>A	uc002mtp.3	-	3	1619	c.1381C>T	c.(1381-1383)Ccc>Tcc	p.P461S		NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	Homo sapiens zinc finger protein 563 (ZNF563), mRNA.	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CATACACTGGGATAAACAAAG	0.378000														109			52		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908493	164908493	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:164908493C>T	uc003fej.4	-	1	570	c.126G>A	c.(124-126)gaG>gaA	p.E42E	SLITRK3_uc003fek.3_Silent_p.E42E|SLITRK3_uc021xgy.1_Silent_p.E42E	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	42						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAAAACAGGGCTCATCTATTT	0.393000										HNSCC(40;0.11)				115			15		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72509738	72509738	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72509738C>T	uc001jrg.3	+	15	2433	c.2433C>T	c.(2431-2433)atC>atT	p.I811I	ADAMTS14_uc001jrh.3_Silent_p.I808I	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	808	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCATTGCCATCCTGGTGAGCC	0.642000														56			11		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86808051	86808051	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:86808051G>A	uc002blz.1	+	9	1591	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q	AGBL1_uc002bma.1_Missense_Mutation_p.R235Q|AGBL1_uc002bmb.1_Missense_Mutation_p.R198Q	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	504					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						ATGTTGGAACGAAAATGTGGA	0.443000														56			35		0	0	1	0	0
RAX	30062	broad.mit.edu	37	18	56939816	56939816	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:56939816C>T	uc002lhx.3	-	1	507	c.320G>A	c.(319-321)gGg>gAg	p.G107E	RAX_uc010dpp.3_Intron	NM_013435	NP_038463	Q9Y2V3	RX_HUMAN	Homo sapiens retina and anterior neural fold homeobox (RAX), mRNA.	107				G -> W (in Ref. 1; AAD23438).	visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		CCGTGCCTCCCCGGGCTCCTT	0.701000														56			16		0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785679	12785679	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12785679G>A	uc009vnn.1	+	3	1002	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	AADACL3_uc001aug.1_Missense_Mutation_p.E187K	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	257							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTTACTTGGAAGTAAGTGT	0.502000														120			63		0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74592677	74592677	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74592677C>T	uc002skx.3	-	24	3312	c.2994G>A	c.(2992-2994)ctG>ctA	p.L998L	SLC4A5_uc002skl.3_5'Flank|DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Silent_p.L864L|DCTN1_uc002sku.3_Silent_p.L864L|DCTN1_uc002skw.2_Silent_p.L991L|DCTN1_uc010ffd.3_Silent_p.L978L|DCTN1_uc002sky.3_Silent_p.L961L	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	998					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GGGTCTCCTCCAGCCGAGTCT	0.577000														43			12		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61769308	61769308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:61769308C>T	uc003xue.3	+	33	7961	c.7469C>T	c.(7468-7470)tCg>tTg	p.S2490L	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2490					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCAGGCCTTTCGCGCACACCC	0.478000														165			33		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108156525	108156525	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108156525C>T	uc003dxa.1	-	25	3214	c.3157G>A	c.(3157-3159)Gag>Aag	p.E1053K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1053						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.E1053D(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						GCTTTTCTCTCCTGCTCAAGG	0.423000														179			18		0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88474181	88474181	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:88474181A>G	uc002ssy.4	+	1	1938	c.247A>G	c.(247-249)Aga>Gga	p.R83G	THNSL2_uc002ssw.4_Missense_Mutation_p.R83G|THNSL2_uc002sta.4_Intron|THNSL2_uc010fhe.3_5'UTR|THNSL2_uc021vkq.1_Missense_Mutation_p.R83G|THNSL2_uc021vkr.1_Missense_Mutation_p.R83G	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	83					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGCCTTCAGCAGATTCCGTCA	0.517000														85			33		0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39156146	39156146	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:39156146C>T	uc003cjc.2	+	5	806	c.629C>T	c.(628-630)tCa>tTa	p.S210L	TTC21A_uc003cja.3_Missense_Mutation_p.S210L|TTC21A_uc010hho.2_Missense_Mutation_p.S132L|TTC21A_uc003cjb.3_Silent_p.F76F|TTC21A_uc011ayx.1_Missense_Mutation_p.S169L|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	210							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACTGTGACTTCAGGGAGCTTC	0.552000														105			47		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26115908	26115908	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:26115908G>A	uc002gzu.3	-	3	509	c.245C>T	c.(244-246)cCa>cTa	p.P82L	NOS2_uc010crh.1_Missense_Mutation_p.P82L|NOS2_uc010wab.1_Missense_Mutation_p.P82L	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	82					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CACATGCCGTGGGGAGGACAA	0.532000														69			61		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145629432	145629432	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:145629432G>A	uc003ijs.2	+	6	1950	c.1270G>A	c.(1270-1272)Gtg>Atg	p.V424M		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	424						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCCCCCCGAAGTGTTTGCTCA	0.532000														69			16		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101190431	101190431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:101190431G>A	uc001dti.3	+	3	1134	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	VCAM1_uc010ouj.2_Missense_Mutation_p.E243K|VCAM1_uc001dtj.3_Missense_Mutation_p.E305K	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	305	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AAAAGAGGTGGAATTAATTGT	0.373000														62			10		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46976939	46976939	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46976939G>A	uc003oyt.3	-	10	2431	c.2232C>T	c.(2230-2232)ctC>ctT	p.L744L	GPR110_uc011dwl.2_Silent_p.L432L	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	744					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAAAAGCCAGGAGTGGTTTGC	0.473000														68			20		0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121188184	121188184	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:121188184G>A	uc003kss.3	+	0	535	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	176	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GTCGTTGCTGGAATTGCACGC	0.507000														151			19		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35752159	35752159	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:35752159C>T	uc010zvu.2	-	15	1920	c.1829G>A	c.(1828-1830)cGa>cAa	p.R610Q	C20orf132_uc002xgk.3_Missense_Mutation_p.R242Q	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				CGTAGCTGCTCGAAGCCTGTT	0.483000														33			6		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150881794	150881794	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:150881794C>T	uc003eyp.3	+	7	1351	c.1222C>T	c.(1222-1224)Ccc>Tcc	p.P408S	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Missense_Mutation_p.P408S|MED12L_uc003eyo.3_Missense_Mutation_p.P408S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	408					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCCAGCCTCCCCATGCCGGG	0.522000														84			23		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189065209	189065209	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:189065209C>T	uc003izm.1	+	4	893	c.778C>T	c.(778-780)Cag>Tag	p.Q260*	TRIML1_uc003izn.1_5'UTR	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	260					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ACTCTTGCTTCAGTGTCCAGA	0.552000														29			8		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150554705	150554705	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150554705C>T	uc003why.1	+	2	5365	c.1147C>T	c.(1147-1149)Cat>Tat	p.H383Y	ABP1_uc003whz.1_Missense_Mutation_p.H383Y|ABP1_uc003wia.1_Missense_Mutation_p.H383Y	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	383					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CAGCGTCACTCATGAGTTAGC	0.617000														112			36		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3905638	3905638	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3905638G>A	uc010xhz.2	+	4	844	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	ATCAY_uc002lyy.4_Missense_Mutation_p.E115K			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	115					transport		protein binding	p.D120D(1)		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)		GAATGGCAACGAACTGGAGTG	0.577000														62			25		0	0	1	0	0
SENP8	123228	broad.mit.edu	37	15	72432043	72432043	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72432043C>T	uc021spq.1	+	1	412	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F	SENP8_uc021spr.1_Missense_Mutation_p.L27F|SENP8_uc021sps.1_Missense_Mutation_p.L27F|SENP8_uc021spt.1_Missense_Mutation_p.L27F|SENP8_uc002atp.3_Missense_Mutation_p.L27F|SENP8_uc021spu.1_Missense_Mutation_p.L27F	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN	Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.	27	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						GCCAAGCTGGCTCAATGACCA	0.488000														205			66		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140953629	140953629	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140953629C>T	uc004cog.3	+	29	4717	c.4572C>T	c.(4570-4572)gcC>gcT	p.A1524A	CACNA1B_uc022bqn.1_Silent_p.A1524A|CACNA1B_uc011mfd.2_Silent_p.A1125A|CACNA1B_uc004coi.3_Silent_p.A738A	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1524					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGATCATCGCCTTTGGGGTGC	0.498000														11			4		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12649361	12649361	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:12649361C>T	uc002gno.2	+	8	1396	c.1097C>T	c.(1096-1098)cCa>cTa	p.P366L	MYOCD_uc002gnn.2_Missense_Mutation_p.P366L|MYOCD_uc002gnp.1_Missense_Mutation_p.P270L|MYOCD_uc002gnq.2_Missense_Mutation_p.P85L	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	366					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AAACCAGGCCCACTCCCACCT	0.408000														109			14		0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127409777	127409777	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:127409777C>T	uc001liq.1	+	1	406	c.113C>T	c.(112-114)tCa>tTa	p.S38L	FLJ37035_uc001lim.2_5'Flank|C10orf137_uc001lin.3_Missense_Mutation_p.S38L|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Missense_Mutation_p.S38L	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AATTAGGGATCAGCTTTATTT	0.398000														97			35		0	0	1	0	0
COMMD1	150684	broad.mit.edu	37	2	62132963	62132963	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:62132963C>T	uc002sbp.3	+	0	161	c.150C>T	c.(148-150)ccC>ccT	p.P50P		NM_152516	NP_689729	Q8N668	COMD1_HUMAN	Homo sapiens copper metabolism (Murr1) domain containing 1 (COMMD1), mRNA.	50					copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	Cul2-RING ubiquitin ligase complex|cell junction|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			AGTTCCGCCCCTTTCTGGCAA	0.597000														48			12		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96745809	96745809	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96745809C>T	uc001kka.4	+	7	1194	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F	CYP2C9_uc009xut.3_Missense_Mutation_p.S388F	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	390					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.I389T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	ATATTAATTTCCCTGACTTCT	0.378000														134			47		0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37180580	37180580	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:37180580G>A	uc001wtz.2	-	6	856	c.546C>T	c.(544-546)ttC>ttT	p.F182F	SLC25A21_uc021rsf.1_Silent_p.F182F	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.	182					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)		AAACCATGTTGAAAACTCCAT	0.383000														59			27		0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89671687	89671687	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:89671687C>T	uc003hse.1	-	14	2036	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K	FAM13A_uc003hsa.1_Missense_Mutation_p.E81K|FAM13A_uc003hsb.1_Missense_Mutation_p.E284K|FAM13A_uc003hsd.1_Missense_Mutation_p.E284K|FAM13A_uc003hsc.1_Missense_Mutation_p.E270K|FAM13A_uc011cdq.1_Missense_Mutation_p.E256K|FAM13A_uc003hsf.1_Missense_Mutation_p.E196K|FAM13A_uc003hsg.1_Missense_Mutation_p.E81K|FAM13A_uc010ikr.1_Missense_Mutation_p.E106K	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	610					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TCGCTGTCTTCGTCCAGCAGC	0.602000														97			30		0	0	1	0	0
FAM92A1P2	403315	broad.mit.edu	37	4	183959078	183959078	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:183959078G>A	uc003ivi.4	+	0		c.261G>A								Homo sapiens family with sequence similarity 92, member A3 (FAM92A3), non-coding RNA.																		GAGGATGAATGAAATCAACTC	0.473000														8			5		0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85447412	85447412	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:85447412C>T	uc002blg.3	+	6	748	c.546C>T	c.(544-546)ttC>ttT	p.F182F	SLC28A1_uc010upd.1_Silent_p.F104F|SLC28A1_uc010bnb.3_Silent_p.F182F|SLC28A1_uc010upe.2_Silent_p.F182F|SLC28A1_uc010upf.1_Silent_p.F182F|SLC28A1_uc010upg.1_Silent_p.F182F	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	182					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGGTGTCCTTCGCAGGAATCT	0.592000														109			40		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18829902	18829902	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:18829902G>A	uc003zne.4	+	22	4328	c.4176G>A	c.(4174-4176)ccG>ccA	p.P1392P	ADAMTSL1_uc003znf.4_Silent_p.P93P	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1392						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCACTGGACCGAACCTTCCTT	0.567000														27			13		0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861395	55861395	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55861395C>T	uc010rix.2	+	0	612	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TAGCTGGATTCACTCTTCTTA	0.453000														98			26		0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67333348	67333348	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67333348G>A	uc002esu.2	-	5	955	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	KCTD19_uc002est.2_Silent_p.L74L|KCTD19_uc010vjj.1_Silent_p.L45L	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	302						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGCTGGCCCAGCGCAGAGTCC	0.627000														78			31		0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28285047	28285047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:28285047G>A	uc001bpg.3	+	7	1257	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	SMPDL3B_uc010ofq.2_Missense_Mutation_p.E150K|SMPDL3B_uc010ofr.2_Missense_Mutation_p.E308K|XKR8_uc001bph.1_5'Flank	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	356					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GCCGCGCTGGGAGCTCGAGTA	0.627000														76			8		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125081671	125081671	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:125081671G>A	uc003yqw.3	+	28	3995	c.3789G>A	c.(3787-3789)aaG>aaA	p.K1263K	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1263						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAATGCTCAAGAAGAAACCCA	0.468000														51			19		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31404690	31404690	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31404690C>T	uc010cap.1	+	0	58	c.9C>T	c.(7-9)ttC>ttT	p.F3F	ITGAD_uc010vfl.1_Silent_p.F3F|ITGAD_uc002ebv.1_Silent_p.F3F	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	3					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGATGACCTTCGGCACTGTGC	0.587000														87			34		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70964202	70964202	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:70964202C>T	uc003pfg.4	-	24	1855	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N	COL9A1_uc003pfe.4_Missense_Mutation_p.D139N|COL9A1_uc003pff.4_Missense_Mutation_p.D323N	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	566	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.G565A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AATCCTGCATCACCAGGAGGC	0.383000														69			8		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176708836	176708836	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176708836G>A	uc001gkz.3	+	12	5037	c.3873G>A	c.(3871-3873)gaG>gaA	p.E1291E	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1291					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCCCGGAGAGCATCAGCAGC	0.458000														64			36		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207025	58207025	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:58207025C>T	uc001vhq.1	+	0	1237	c.345C>T	c.(343-345)atC>atT	p.I115I	PCDH17_uc010aec.1_Silent_p.I115I	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	115	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACAAGGAGATCTGCATGATCA	0.592000														26			14		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42306227	42306227	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:42306227C>T	uc001uyj.3	-	21	2561	c.2491G>A	c.(2491-2493)Gac>Aac	p.D831N	KIAA0564_uc001uyk.3_Missense_Mutation_p.D831N	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	831						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		AAAGGTGAGTCTTCATATACA	0.343000														53			15		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113442792	113442792	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113442792C>T	uc001tuj.3	+	6	1373	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	OAS2_uc001tui.1_Silent_p.L411L	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	411	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	p.L411L(2)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATGCCGATCTCGTCGTGTTCC	0.478000														52			19		0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26821441	26821441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:26821441C>T	uc010wan.2	+	8	1433	c.1366C>T	c.(1366-1368)Ctc>Ttc	p.L456F	SLC13A2_uc010wam.2_Missense_Mutation_p.L363F|SLC13A2_uc002hbh.3_Missense_Mutation_p.L407F|SLC13A2_uc010wao.2_Missense_Mutation_p.L364F|SLC13A2_uc002hbi.3_Missense_Mutation_p.L336F	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	407						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCCTCTTGGCCTCCTCGACTG	0.567000											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			30		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1418203	1418203	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1418203C>T	uc002qwr.3	+	1	109	c.23C>T	c.(22-24)tCt>tTt	p.S8F	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.S8F|TPO_uc002qww.3_Missense_Mutation_p.S8F|TPO_uc002qwx.3_Missense_Mutation_p.S8F|TPO_uc002qwu.3_Missense_Mutation_p.S8F|TPO_uc010yio.2_Missense_Mutation_p.S8F|TPO_uc010yip.2_Missense_Mutation_p.S8F	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	8					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCTGTGCTGTCTGTCACGCTG	0.507000														28			13		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51853778	51853778	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51853778C>T	uc001rys.1	+	7	1077	c.899C>T	c.(898-900)gCc>gTc	p.A300V	SLC4A8_uc010sni.2_Missense_Mutation_p.A247V|SLC4A8_uc001rym.3_Missense_Mutation_p.A247V|SLC4A8_uc001ryn.3_Missense_Mutation_p.A247V|SLC4A8_uc001ryo.2_Missense_Mutation_p.A247V|SLC4A8_uc001ryp.1_Missense_Mutation_p.A247V|SLC4A8_uc010snj.2_Missense_Mutation_p.A327V|SLC4A8_uc001ryq.4_Missense_Mutation_p.A300V|SLC4A8_uc001ryr.3_Missense_Mutation_p.A300V|SLC4A8_uc010snk.2_Missense_Mutation_p.A247V	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	300					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GGGGCCGAGGCCTCCAATGTC	0.463000														210			24		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216062391	216062391	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:216062391C>T	uc001hku.1	-	40	7987	c.7600G>A	c.(7600-7602)Gga>Aga	p.G2534R		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2534	Fibronectin type-III 12.				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)		ACTACAGGTCCAGGTTCTGTA	0.413000										HNSCC(13;0.011)				53			17		0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70190728	70190728	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:70190728C>T	uc002eyf.1	+	18	3543	c.2586C>T	c.(2584-2586)ttC>ttT	p.F862F	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Silent_p.F762F|PDPR_uc002eyg.1_Silent_p.F529F|PDPR_uc002eyh.2_Silent_p.F207F|PDPR_uc010vls.1_Silent_p.F207F|PDPR_uc021tkj.1_5'Flank	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	862					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CCTCCCTCTTCACCCAGAAGC	0.562000														23			4		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737473	13737473	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13737473G>A	uc003jfd.2	-	65	11385	c.11343C>T	c.(11341-11343)ctC>ctT	p.L3781L	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3781	AAA 5 (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)					GCACGACAATGAGACTTTCAT	0.453000									Kartagener syndrome					119			45		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61947987	61947987	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61947987C>T	uc011aau.2	+	20	2707	c.2607C>T	c.(2605-2607)ttC>ttT	p.F869F	COL20A1_uc011aav.2_Silent_p.F690F	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	869	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTCTGCCTTCGGTGGGACCC	0.647000														6			3		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28541300	28541300	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28541300G>A	uc003nlo.3	-	3	2984	c.2366C>T	c.(2365-2367)tCa>tTa	p.S789L		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	789					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttttggttgtgaacttatttc	0.338000														63			16		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72020966	72020966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72020966G>A	uc002atb.1	+	7	1515	c.1436G>A	c.(1435-1437)gGg>gAg	p.G479E	THSD4_uc002atd.1_Missense_Mutation_p.G153E|THSD4_uc010ukg.1_Missense_Mutation_p.G119E|THSD4_uc002ate.2_Missense_Mutation_p.G119E	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	479						proteinaceous extracellular matrix	metalloendopeptidase activity	p.G478*(2)|p.G478E(1)|p.G478V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGGGCGGAGGGACCATGTTC	0.512000														238			20		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35654817	35654817	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35654817G>A	uc003jjo.3	+	6	1078	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	SPEF2_uc003jjn.1_Missense_Mutation_p.E323K|SPEF2_uc003jjq.4_Missense_Mutation_p.E323K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	323					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATAGCCCACGAAGCACAAGA	0.363000														103			22		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3638194	3638194	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3638194G>A	uc002fwo.4	-	20	2671	c.2572C>T	c.(2572-2574)Cta>Tta	p.L858L		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	858					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAGTTAGTTAGGTTAATGTTC	0.463000														167			23		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108383741	108383741	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:108383741C>T	uc001pkk.3	-	5	2604	c.2493G>A	c.(2491-2493)caG>caA	p.Q831Q	EXPH5_uc010rvz.2_Silent_p.Q675Q|EXPH5_uc010rvy.2_Silent_p.Q643Q	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	831					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CAGTTAATTCCTGGTGACAAC	0.388000														138			54		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599310	179599310	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179599310G>A	uc021vsy.1	-	48	11734	c.11509C>T	c.(11509-11511)Ctt>Ttt	p.L3837F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L498F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4764							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)			GCAGGCTCAAGAGTTTTGATG	0.368000														150			28		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87614323	87614323	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:87614323G>A	uc001kdl.1	-	7	1264	c.1163C>T	c.(1162-1164)tCg>tTg	p.S388L	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	388						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	ATAGGGATTCGAACTGTCCTC	0.493000										Multiple Myeloma(13;0.14)				64			27		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28983403	28983403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28983403G>A	uc002kwr.2	+	10	1577	c.1442G>A	c.(1441-1443)gGa>gAa	p.G481E	DSG4_uc002kwq.2_Missense_Mutation_p.G481E	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	481	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACAGCTACAGGAACCATATGT	0.398000														26			13		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20329572	20329572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20329572C>T	uc002dgv.3	-	7	1280	c.1197G>A	c.(1195-1197)agG>agA	p.R399R	GP2_uc002dgw.3_Silent_p.R396R|GP2_uc002dgx.3_Silent_p.R252R|GP2_uc002dgy.3_Silent_p.R249R	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	399	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CATAGCAGTTCCTCAACACCA	0.483000														82			15		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120385964	120385964	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:120385964G>A	uc003vjj.1	+	4	2563	c.1598G>A	c.(1597-1599)cGa>cAa	p.R533Q		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	533					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.R533*(2)		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)					TGTTCACGACGACACAAAAAA	0.448000														84			35		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106554835	106554835	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:106554835G>A	uc003prd.2	+	6	2186	c.1952G>A	c.(1951-1953)cGa>cAa	p.R651Q	PRDM1_uc003pre.3_Missense_Mutation_p.R517Q	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	651					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		ACCCACCTGCGACTCCATTCT	0.547000			"""D, N, Mis, F, S"""		DLBCL									55			40		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149509044	149509044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149509044C>T	uc010lpk.3	+	67	9581	c.9581C>T	c.(9580-9582)gCc>gTc	p.A3194V		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3197	TSP type-1 11.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGTGTTCAGCCTCCTGTGGC	0.697000														39			19		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937626	21937626	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:21937626C>T	uc010tzj.1	-	0		c.3114G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CGTCCTCCTCCTCTGTCACTA	0.493000														113			18		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121785550	121785550	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:121785550G>A	uc003ksw.1	+	8	1809	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	SNCAIP_uc011cwl.1_Missense_Mutation_p.E93K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E169K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E582K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E169K|SNCAIP_uc010jcu.2_Missense_Mutation_p.E131K|SNCAIP_uc011cwm.1_Missense_Mutation_p.E169K|SNCAIP_uc003kta.1_Missense_Mutation_p.E167K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E229K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E475K|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.E51K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	535					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ACAAACAGTAGAACGTGTCAC	0.413000														148			44		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51387809	51387809	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:51387809C>T	uc011bds.2	+	39	4116	c.4093C>T	c.(4093-4095)Cct>Tct	p.P1365S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1365	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGGAAGTTTCCTTTCTTTCT	0.428000														103			45		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47860722	47860722	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:47860722G>A	uc003tny.2	-	45	6951	c.6917C>T	c.(6916-6918)tCc>tTc	p.S2306F	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Missense_Mutation_p.S33F	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2306					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTCATCTTGGGAAAATCTCCC	0.413000														45			17		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39525587	39525587	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39525587G>A	uc003xni.3	+	13	1452	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G442E	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	466	Disintegrin.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TACTGCAATGGAACCTCTAGT	0.393000														125			61		0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651391	1651392	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1651391_1651392GG>AA	uc001lty.3	+	0	359_360	c.321_322GG>AA	c.(319-324)ggggcc>ggAAcc	p.A108T	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	108	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.A108G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTCCAAGGGGGCCTGTGGCTC	0.688000														111			53		0	0	1	0	0
RTBDN	83546	broad.mit.edu	37	19	12945613	12945613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12945613G>A	uc002mvj.3	-	1	382	c.64C>T	c.(64-66)Ctc>Ttc	p.L22F	RTBDN_uc002mvh.1_Missense_Mutation_p.L22F|RTBDN_uc021upo.1_5'Flank	NM_031429	NP_001074466	Q9BSG5	RTBDN_HUMAN	Homo sapiens retbindin (RTBDN), transcript variant 2, mRNA.	0						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						AAGGTGGGGAGGGATTCTGTA	0.582000														58			16		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101348213	101348213	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:101348213G>A	uc010txj.1	-	0	2972	c.2913C>T	c.(2911-2913)gtC>gtT	p.V971V	MIR433_uc021scd.1_5'Flank|MIR127_uc001yig.3_5'Flank|MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	971								p.V971I(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AGAAGAAGAAGACCCAATGCC	0.552000														134			34		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90086735	90086735	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:90086735C>T	uc003kju.3	+	69	14185	c.14089C>T	c.(14089-14091)Ctt>Ttt	p.L4697F	GPR98_uc003kjt.3_Missense_Mutation_p.L2403F|GPR98_uc003kjw.3_Missense_Mutation_p.L358F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4697	Calx-beta 32.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGAAGACTTTCTTTCCACCAG	0.348000														85			40		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8890460	8890460	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:8890460G>A	uc002qzc.2	-	23	3378	c.3196C>T	c.(3196-3198)Cgt>Tgt	p.R1066C	KIDINS220_uc010yiv.1_Missense_Mutation_p.R832C|KIDINS220_uc002qzd.2_Missense_Mutation_p.R1024C|KIDINS220_uc010yiw.1_Missense_Mutation_p.R1067C|KIDINS220_uc002qzb.2_5'UTR|KIDINS220_uc002qze.3_Missense_Mutation_p.R71C	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1066					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGGCAGCACGAACATCTGAA	0.512000														25			9		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125141072	125141072	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125141072C>T	uc004bmg.1	+	4	506	c.371C>T	c.(370-372)cCc>cTc	p.P124L	PTGS1_uc011lys.1_Missense_Mutation_p.P99L|PTGS1_uc010mwb.1_Missense_Mutation_p.P15L|PTGS1_uc004bmf.1_Missense_Mutation_p.P124L|PTGS1_uc004bmh.1_Missense_Mutation_p.P15L|PTGS1_uc011lyt.1_Missense_Mutation_p.P15L	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	124					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	AACCTTATCCCCAGTCCCCCC	0.537000														58			13		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119106955	119106955	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:119106955C>T	uc004bjn.3	+	13	4126	c.3745C>T	c.(3745-3747)Cag>Tag	p.Q1249*	PAPPA_uc011lxq.2_Nonsense_Mutation_p.Q624*	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1249	Sushi 1.				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						CTACGTGCTCCAGATACGGCG	0.582000														47			7		0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114773083	114773083	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:114773083C>T	uc001vui.3	-	18	1800	c.1669_splice	c.e18-1	p.F557_splice	RASA3_uc010tkk.2_Splice_Site_p.F525_splice|RASA3_uc001vuj.3_Splice_Site_p.F174_splice	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	557					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding	p.?(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GATCCAAGAACTAAAGTTGGA	0.532000														47			4		0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43821061	43821061	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:43821061G>A	uc011apz.2	+	1	510	c.169G>A	c.(169-171)Ggc>Agc	p.G57S	MPPED1_uc011apv.2_Missense_Mutation_p.G24S|MPPED1_uc011apw.2_Intron|MPPED1_uc011apx.2_Intron|MPPED1_uc011apy.2_Missense_Mutation_p.G24S	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	24							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CTGCGGCCTGGGCATGGCATT	0.701000														19			18		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581303	140581303	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140581303C>T	uc003liy.3	+	0	1956	c.1956C>T	c.(1954-1956)cgC>cgT	p.R652R		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	652	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.P651L(1)		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)			AGCCTCCGCGCTCGGCCACCG	0.721000														57			21		0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25273727	25273727	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:25273727C>T	uc001isg.1	-	4	867	c.702G>A	c.(700-702)atG>atA	p.M234I	ENKUR_uc001ish.1_Missense_Mutation_p.M172I	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	Homo sapiens enkurin, TRPC channel interacting protein (ENKUR), mRNA.	234						cilium|flagellum	SH3 domain binding|calmodulin binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CTAGTTGTTTCATTTCTTCTT	0.348000														79			6		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48746744	48746744	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48746744G>A	uc002isl.3	+	16	2176	c.2096G>A	c.(2095-2097)tGg>tAg	p.W699*		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	699	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CAGCAGGCATGGATCCAGAAC	0.612000														64			23		0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57057430	57057430	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:57057430G>A	uc002iwx.3	+	6	1433	c.1306G>A	c.(1306-1308)Ggc>Agc	p.G436S	PPM1E_uc010ddd.3_Missense_Mutation_p.G199S	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	445	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GGCCTGTGATGGCTTCTATGA	0.498000														30			15		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1920391	1920391	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1920391G>A	uc001aim.1	-	2	245	c.89C>T	c.(88-90)cCg>cTg	p.P30L	KIAA1751_uc009vkz.1_Missense_Mutation_p.P30L|KIAA1751_uc001ain.1_Missense_Mutation_p.P30L	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	30								p.P30P(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GTCAAACTCCGGATCCTCTAA	0.433000														47			16		0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187130354	187130354	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187130354T>A	uc003iyw.4	+	9	1637	c.1333T>A	c.(1333-1335)Ttc>Atc	p.F445I	CYP4V2_uc010ism.3_Non-coding_Transcript	NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.	445					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TGAGCGGTTCTTCCCCGAGAA	0.527000														117			37		0	0	1	0	0
TMEM5	10329	broad.mit.edu	37	12	64173857	64173857	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:64173857C>T	uc001srq.1	+	0	221	c.117C>T	c.(115-117)tcC>tcT	p.S39S	TMEM5_uc001srs.1_5'Flank	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	Homo sapiens transmembrane protein 5 (TMEM5), mRNA.	39						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		cggccgggtccccgcggggcc	0.721000														12			6		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580724	140580724	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140580724C>T	uc003liy.3	+	0	1377	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	459	Cadherin 5.				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)			ACACCCTGTTCGTCCGCGAGA	0.587000														223			62		0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563286	55563286	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55563286G>A	uc010rim.2	+	0	255	c.255G>A	c.(253-255)gaG>gaA	p.E85E		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AGCTGCTTGAGAACTTGGTAA	0.423000														68			18		0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164272587	164272587	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:164272587C>T	uc003iqn.3	+	3	1344	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y	NPY5R_uc021xtw.1_Missense_Mutation_p.H388Y	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	388					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ACACCTTTTCCATGTGGTAAC	0.343000														91			39		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743007	26743007	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:26743007G>A	uc001mra.2	-	0	568	c.255C>T	c.(253-255)ttC>ttT	p.F85F	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.4_Silent_p.F85F	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	85					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GGTAAGCAATGAAGAAGACTA	0.488000														70			22		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528795	57528795	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:57528795G>A	uc011kdi.1	+	3	740	c.628G>A	c.(628-630)Gag>Aag	p.E210K		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.									p.R209M(1)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						TCATACTAGGGAGAAGTCTTA	0.358000														25			5		0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172241118	172241118	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:172241118G>A	uc003fid.3	-	0	180	c.57C>T	c.(55-57)atC>atT	p.I19I	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Silent_p.I19I|TNFSF10_uc010hwu.2_Silent_p.I19I	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	19					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGAAGATCACGATCAGCACGC	0.562000														81			29		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57372430	57372430	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57372430G>A	uc001cyo.2	+	7	1319	c.1187G>A	c.(1186-1188)gGa>gAa	p.G396E		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	396	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGTTTATCAGGAGACCATTGT	0.423000														127			53		0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68129141	68129141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:68129141C>T	uc002jiq.3	+	2	1149	c.1009C>T	c.(1009-1011)Ctc>Ttc	p.L337F	KCNJ16_uc002jin.3_Missense_Mutation_p.L305F|KCNJ16_uc002jio.3_Missense_Mutation_p.L305F|KCNJ16_uc002jip.3_Missense_Mutation_p.L305F|KCNJ16_uc021uch.1_Missense_Mutation_p.L305F	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	305					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CCGAGAAATTCTCTGGGGCCA	0.403000														116			33		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36287141	36287141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:36287141C>T	uc003oly.3	-	10	2093	c.1915G>A	c.(1915-1917)Gac>Aac	p.D639N		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	639										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						ACCGGCTGGTCCTCCCTGTAT	0.542000														99			32		0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1321317	1321317	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:1321317G>A	uc004cpk.2	-	3	440	c.438C>T	c.(436-438)ctC>ctT	p.L146L	CRLF2_uc022brt.1_Silent_p.L146L|CRLF2_uc004cpl.2_Silent_p.L34L|CRLF2_uc022brs.1_Silent_p.L146L	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	146	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCTCATAGAGGAGATCCCCGT	0.612000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									80			17		0	0	1	0	0
LELP1	149018	broad.mit.edu	37	1	153177391	153177391	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153177391C>T	uc001fbl.3	+	1	318	c.208C>T	c.(208-210)Cct>Tct	p.P70S	LELP1_uc021ozv.1_Missense_Mutation_p.P70S	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	70	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCATCCTGCCCTCCCCAGCC	0.612000														44			24		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265901	39265901	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:39265901C>T	uc001uwv.3	+	0	4729	c.4420C>T	c.(4420-4422)Cag>Tag	p.Q1474*		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1474					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATGCACGGATCAGCCTGGTGT	0.468000														62			21		0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12164447	12164447	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12164447G>A	uc001atq.3	+	3	502	c.280G>A	c.(280-282)Gag>Aag	p.E94K	TNFRSF8_uc010obc.2_5'UTR	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	94					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		p.V93M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CGACCTCGTGGAGAAGACGCC	0.592000														70			28		0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40719134	40719134	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:40719134C>T	uc011aor.2	+	22	5602	c.5391C>T	c.(5389-5391)aaC>aaT	p.N1797N	TNRC6B_uc003aym.3_Silent_p.N993N|TNRC6B_uc003ayn.4_Silent_p.N1687N	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1797					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						GGCCCCCAAACTATTCTTCTA	0.607000														23			9		0	0	1	0	0
DDX25	29118	broad.mit.edu	37	11	125787074	125787074	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:125787074G>A	uc001qcz.4	+	8	1107	c.966G>A	c.(964-966)agG>agA	p.R322R	DDX25_uc010sbk.2_Silent_p.R322R	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	322	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		GTGAGCACAGGAAAGACAAAT	0.468000														16			8		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57417739	57417739	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57417739C>T	uc001cyp.3	-	4	715	c.648G>A	c.(646-648)gtG>gtA	p.V216V	C8B_uc010oon.2_Silent_p.V154V|C8B_uc010ooo.2_Silent_p.V164V	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	216	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTAGCTTTCCACATTGTAGG	0.552000														97			48		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55976645	55976645	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:55976645C>T	uc003has.3	-	8	1482	c.1180G>A	c.(1180-1182)Gga>Aga	p.G394R	KDR_uc003hat.1_Missense_Mutation_p.G394R|KDR_uc011bzx.2_Missense_Mutation_p.G394R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	394	Ig-like C2-type 4.				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			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)	GTGTAATTTCCTGTGTCTCTT	0.408000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				59			31		0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5947473	5947473	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:5947473G>A	uc001alq.2	-	17	2626	c.2358C>T	c.(2356-2358)gtC>gtT	p.V786V	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript|NPHP4_uc009vlu.2_Non-coding_Transcript	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	786					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTTGCCACGACCTCAAGCT	0.642000														47			16		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216595616	216595616	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:216595616G>A	uc001hku.1	-	1	450	c.63C>T	c.(61-63)atC>atT	p.I21I	USH2A_uc001hkv.3_Silent_p.I21I	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	21					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)		AATAGGCAAAGATCAACATTT	0.428000										HNSCC(13;0.011)				72			27		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228673	142228673	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:142228673G>A	uc003ywd.1	-	3	1221	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	SLC45A4_uc003ywc.1_Silent_p.L305L|SLC45A4_uc010meq.1_Silent_p.L303L	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	356					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGGCGGGGCAGCTTGGTCTTG	0.617000														55			15		0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20130761	20130761	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:20130761C>T	uc002zrr.2	+	9	1715	c.1608C>T	c.(1606-1608)ccC>ccT	p.P536P	ZDHHC8_uc002zrq.3_Silent_p.P536P|ZDHHC8_uc010gsa.3_Silent_p.P342P	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	536						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCCGGGAGCCCTCGCCTGTGC	0.706000														26			15		0	0	1	0	0
CXXC5	51523	broad.mit.edu	37	5	139060312	139060312	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:139060312C>T	uc010jfg.1	+	1	494	c.204C>T	c.(202-204)ccC>ccT	p.P68P	CXXC5_uc003let.2_Silent_p.P68P	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.	68					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGTGAGCCCCTCAACAAGA	0.632000														96			29		0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39553606	39553606	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39553606G>A	uc002hwn.3	-	0	239	c.186C>T	c.(184-186)ttC>ttT	p.F62F	KRT31_uc010cxn.3_Silent_p.F62F	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	62	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GGTCGTTCAGGAACTGCATAG	0.622000														83			52		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3723942	3723942	+	Missense_Mutation	SNP	G	C	C	rs146515319	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:3723942G>C	uc001lyh.3	-	22	3684	c.3263C>G	c.(3262-3264)cCg>cGg	p.P1088R	NUP98_uc001lyi.3_Missense_Mutation_p.P1088R|NUP98_uc001lyg.3_Intron	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1105					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGTTTTCAACGGAACCTCAGG	0.512000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									41			14		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115341723	115341723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115341723G>A	uc001lai.4	+	8	1030	c.927G>A	c.(925-927)agG>agA	p.R309R	HABP2_uc021pyr.1_Silent_p.R283R|HABP2_uc010qrz.1_Intron	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	309					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TAGCAGAGAGGAAGATCAAGA	0.572000														122			45		0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163850	141163850	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:141163850C>T	uc010hup.3	+	1	2670	c.2623C>T	c.(2623-2625)Cct>Tct	p.P875S	ZBTB38_uc003etw.3_Missense_Mutation_p.P874S|ZBTB38_uc010hun.3_Missense_Mutation_p.P871S|ZBTB38_uc010huo.3_Missense_Mutation_p.P874S|ZBTB38_uc003ety.3_Missense_Mutation_p.P874S|ZBTB38_uc021xes.1_Missense_Mutation_p.P874S	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	874					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GCAGGAGGAGCCTTTGCCACA	0.478000														55			21		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13418643	13418643	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:13418643G>A	uc002mwy.3	-	14	2175	c.1939C>T	c.(1939-1941)Ccc>Tcc	p.P647S	CACNA1A_uc010dzc.2_Missense_Mutation_p.P173S|CACNA1A_uc010xnd.2_Missense_Mutation_p.P647S|CACNA1A_uc021ups.1_Missense_Mutation_p.P647S|CACNA1A_uc010xne.2_Missense_Mutation_p.P647S|CACNA1A_uc010dze.2_Missense_Mutation_p.P647S|CACNA1A_uc021upt.1_Missense_Mutation_p.P648S	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	648					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AAGTTGGTGGGAGGAGTCCCT	0.542000														83			27		0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120402	47120402	+	Missense_Mutation	SNP	C	T	T	rs61745038	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:47120402C>T	uc001wwg.3	-	0	627	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	180					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.E180K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						TCTTCAAATTCGTCAGCATTA	0.517000														99			50		0	0	1	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28476733	28476733	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:28476733C>T	uc003ceh.3	+	3	633	c.465C>T	c.(463-465)ttC>ttT	p.F155F	ZCWPW2_uc003cei.3_Silent_p.F155F|ZCWPW2_uc010hfo.3_5'UTR	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 2 (ZCWPW2), mRNA.	155	PWWP.						zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AGGCAACATTCGTTGGACATT	0.333000														84			14		0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41628764	41628764	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41628764C>T	uc002opu.1	+	6	916	c.860C>T	c.(859-861)aCc>aTc	p.T287I	CYP2F1_uc021uuv.1_Missense_Mutation_p.T73I|CYP2F1_uc010xvv.1_Missense_Mutation_p.T287I|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	287					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.D286N(1)|p.T287A(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CACATGGATACCCTGCTGATG	0.562000														45			15		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104510873	104510873	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:104510873C>T	uc003hxe.1	-	4	1505	c.1364G>A	c.(1363-1365)aGc>aAc	p.S455N		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	455						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATAGGGTGAGCTTATGAAACT	0.468000														135			47		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043700	20043700	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20043700G>A	uc002dgu.1	-	1	581	c.419C>T	c.(418-420)tCa>tTa	p.S140L	GPR139_uc010vaw.1_Missense_Mutation_p.S47L	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	140						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGCTGGGTATGAGACCGTGTG	0.507000														83			32		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11117651	11117651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:11117651G>A	uc003jfa.1	-	12	2333	c.2188C>T	c.(2188-2190)Cgc>Tgc	p.R730C	CTNND2_uc010itt.2_Missense_Mutation_p.R639C|CTNND2_uc011cmy.1_Missense_Mutation_p.R393C|CTNND2_uc011cmz.1_Missense_Mutation_p.R297C|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.R297C	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	730					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATCCTTCTGCGGGCCTCCTCT	0.542000														77			34		0	0	1	0	0
SOLH	6650	broad.mit.edu	37	16	601394	601394	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:601394C>T	uc002chi.3	+	7	2522	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F	SOLH_uc002chj.3_5'Flank	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	720	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				CATGCCTACTCCATCCTGGAT	0.662000														63			16		0	0	1	0	0
NBPF7	343505	broad.mit.edu	37	1	120378788	120378788	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:120378788G>A	uc010oxk.2	-	6	1579	c.958C>T	c.(958-960)Ccg>Tcg	p.P320S		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	320	NBPF 2.					cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		CTTTCCTCCGGGGAGTCCTGC	0.483000														72			28		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061005	9061005	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9061005C>T	uc002mkp.3	-	2	26645	c.26441G>A	c.(26440-26442)gGa>gAa	p.G8814E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8816	Ser-rich.|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						TGAGTGAGTTCCTGGCCAGGA	0.542000														89			37		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99439351	99439351	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:99439351C>T	uc002szf.1	-	6	1679	c.1385G>A	c.(1384-1386)aGa>aAa	p.R462K		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	462	Pro-rich.									NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						CTCCGCTTCTCTCTCGGGCTC	0.746000														45			11		0	0	1	0	0
GRAMD4	23151	broad.mit.edu	37	22	47062746	47062746	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:47062746C>T	uc003bhx.3	+	8	883	c.834C>T	c.(832-834)atC>atT	p.I278I	GRAMD4_uc010had.3_Silent_p.I217I	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	278					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)		AGTGGAGCATCGTGCCCGAAG	0.617000														104			45		0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12270755	12270755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:12270755C>T	uc001mjz.3	+	21	3097	c.2809C>T	c.(2809-2811)Cat>Tat	p.H937Y	MICAL2_uc010rch.1_Missense_Mutation_p.H747Y|MICAL2_uc001mka.3_Missense_Mutation_p.H937Y|MICAL2_uc010rci.2_Intron|MICAL2_uc001mkb.3_Missense_Mutation_p.H747Y|MICAL2_uc001mkc.3_Intron|MICAL2_uc001mkd.3_Intron|MICAL2_uc010rcj.2_Missense_Mutation_p.H149Y|MICAL2_uc001mkf.3_Intron	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	937						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ttcagggttccattttcatcc	0.458000														49			25		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84700164	84700164	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:84700164C>T	uc002bjz.4	+	27	4958	c.4734C>T	c.(4732-4734)tcC>tcT	p.S1578S		NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1578						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.S1578C(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTCTGACTCCAACTGTGATG	0.512000														220			54		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420389	55420389	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55420389G>A	uc001sgp.4	+	1	544	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	NEUROD4_uc021qyr.1_Missense_Mutation_p.E56K	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	56	Asp/Glu-rich (acidic).				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CAGTATTgaggaagaagaaga	0.478000														44			17		0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2890665	2890665	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:2890665C>T	uc003mug.3	-	6	984	c.863G>A	c.(862-864)gGa>gAa	p.G288E	AY927512_uc003mue.3_Intron|SERPINB9_uc003muf.3_Missense_Mutation_p.G91E	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	288					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				ATCAACAATTCCCAAATGCCG	0.463000														111			37		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105150462	105150462	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:105150462C>T	uc004emd.3	+	10	1204	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	301	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTCCTGTTTCGTCCTACTTC	0.363000										HNSCC(51;0.14)				7			7		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1651957	1651957	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1651957C>T	uc002qxa.3	-	16	3659	c.3595G>A	c.(3595-3597)Gag>Aag	p.E1199K		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1199					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTCAGTTTCTCCCGGATCTCA	0.517000														213			46		0	0	1	0	0
MRPS31	10240	broad.mit.edu	37	13	41331094	41331094	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:41331094G>A	uc001uxm.4	-	3	730	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C		NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.	219						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGTCTTGAACGAACTCTAGCT	0.373000														77			26		0	0	1	0	0
ZNF570	148268	broad.mit.edu	37	19	37975632	37975632	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:37975632C>T	uc010efl.1	+	5	1395	c.1276C>T	c.(1276-1278)Cgt>Tgt	p.R426C	ZNF570_uc002ogk.1_Missense_Mutation_p.R370C|ZNF570_uc010xtr.1_Missense_Mutation_p.R167C	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTTAGCCTTCGTGCATACCT	0.428000														96			8		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32972621	32972621	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:32972621C>T	uc001uub.1	+	26	10198	c.9971C>T	c.(9970-9972)cCa>cTa	p.P3324L		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	3324					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAGATGACTCCATTTAAAAAA	0.383000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				53			21		0	0	1	0	0
LOC283547	283547	broad.mit.edu	37	14	39304962	39304962	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:39304962C>T	uc010amw.2	-	0		c.3447G>A			LOC283547_uc021rsj.1_Non-coding_Transcript|LOC283547_uc001wun.3_Non-coding_Transcript|LOC283547_uc001wuo.3_Non-coding_Transcript					Homo sapiens uncharacterized LOC283547 (LOC283547), non-coding RNA.																		GAAGGCCTTTCGGCACAGCTT	0.552000														18			4		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91739116	91739116	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:91739116C>T	uc010aty.3	-	29	6094	c.5940G>A	c.(5938-5940)aaG>aaA	p.K1980K	CCDC88C_uc001xzj.3_Silent_p.K504K|CCDC88C_uc001xzi.3_Silent_p.K430K	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1980					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GACCTGGGCTCTTGGCCGGAA	0.711000														23			14		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10088273	10088273	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10088273G>A	uc002mmq.1	-	41	3209	c.3123C>T	c.(3121-3123)tcC>tcT	p.S1041S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1041	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)			CACTTACCCGGGACCCCTTCT	0.642000														26			6		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5042699	5042699	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:5042699C>T	uc002gau.1	+	21	3458	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C	USP6_uc002gav.1_Missense_Mutation_p.R410C|USP6_uc010ckz.1_Missense_Mutation_p.R93C|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	410					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R410H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATGGGCATCTCGTTTTTCCAC	0.657000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									28			17		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690528	33690528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:33690528C>T	uc002hjg.4	-	1	546	c.299G>A	c.(298-300)gGa>gAa	p.G100E	SLFN11_uc010ctr.3_Missense_Mutation_p.G100E|SLFN11_uc010ctp.3_Missense_Mutation_p.G100E|SLFN11_uc010ctq.3_Missense_Mutation_p.G100E|SLFN11_uc002hjh.4_Missense_Mutation_p.G100E	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	100						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAAACACCTTCCTTGTTGCTT	0.458000														58			19		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558075	140558075	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140558075C>T	uc011dai.2	+	0	705	c.460C>T	c.(460-462)Cct>Tct	p.P154S	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	154	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTGCGTTTCCTCTGAAGAA	0.438000														191			45		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46125901	46125901	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:46125901G>A	uc003gxb.3	-	0	182	c.30C>T	c.(28-30)tcC>tcT	p.S10S		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	10					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		GAAGAAAAGGGGAGAAGAGAA	0.473000														48			6		0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23619259	23619259	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23619259G>A	uc002dlx.1	-	11	3476	c.3276C>T	c.(3274-3276)ctC>ctT	p.L1092L		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	1092	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TAATCACAATGAGCTGAAACA	0.483000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						56			14		0	0	1	0	0
PDIA3P	171423	broad.mit.edu	37	1	146649854	146649854	+	Silent	SNP	C	T	T	rs1053423		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:146649854C>T	uc001epg.1	+	0	425	c.162C>T	c.(160-162)gcC>gcT	p.A54A						Homo sapiens protein disulfide isomerase family A, member 3 pseudogene (PDIA3P), non-coding RNA.																		AGTTCTTCGCCCCCTGGTGTG	0.567000														111			10		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233489572	233489572	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233489572G>A	uc001hvt.4	+	2	1267	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	KIAA1804_uc001hvs.1_Missense_Mutation_p.E336K	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	336	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	p.E336K(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GCTGCTGTGGGAACTGCTCAC	0.488000														66			33		0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71796724	71796724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:71796724G>A	uc002llf.2	-	4	781	c.701C>T	c.(700-702)cCa>cTa	p.P234L	FBXO15_uc002lle.2_Missense_Mutation_p.P158L	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	158								p.L233M(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TGCTAGGCATGGCCATTTTTT	0.373000														37			15		0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14341131	14341131	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:14341131C>T	uc010uza.2	+	11	2169	c.2014C>T	c.(2014-2016)Ctt>Ttt	p.L672F	MKL2_uc002dcg.3_Missense_Mutation_p.L672F|MKL2_uc002dcj.3_5'Flank	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	661	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGCCAGACCCTTGTTGCCAA	0.582000														51			28		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55144597	55144597	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:55144597G>A	uc003han.4	+	14	2402	c.2071G>A	c.(2071-2073)Gat>Aat	p.D691N	PDGFRA_uc003haa.3_Missense_Mutation_p.D451N|PDGFRA_uc010igq.1_Missense_Mutation_p.D585N|PDGFRA_uc003ham.2_Non-coding_Transcript|PDGFRA_uc003hao.1_Missense_Mutation_p.D70N	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	691	Protein kinase.				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			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)	TAAGAATAGGGATAGCTTCCT	0.463000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				79			19		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111080842	111080842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:111080842G>A	uc001vqx.3	+	6	678	c.389G>A	c.(388-390)gGa>gAa	p.G130E		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	130					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGCCCAGGGGAAGGCCGGGC	0.622000														83			18		0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49569672	49569672	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49569672C>T	uc021wxz.1	+	2	2197	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	DAG1_uc021wya.1_Silent_p.F576F|DAG1_uc021wyb.1_Silent_p.F576F|DAG1_uc021wyc.1_Silent_p.F576F|DAG1_uc021wyd.1_Silent_p.F576F|DAG1_uc021wye.1_Silent_p.F576F|DAG1_uc021wyf.1_Silent_p.F576F|DAG1_uc021wyg.1_Silent_p.F576F|DAG1_uc021wyh.1_Silent_p.F576F|DAG1_uc021wyi.1_Silent_p.F576F|DAG1_uc021wyj.1_Silent_p.F576F|DAG1_uc021wyk.1_Silent_p.F576F|DAG1_uc003cxc.4_Silent_p.F576F	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	576	Peptidase S72.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ACGAGTATTTCATGCATGCCA	0.597000														36			28		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43492321	43492321	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:43492321G>A	uc002lbm.3	-	21	4017	c.3917C>T	c.(3916-3918)cCc>cTc	p.P1306L	EPG5_uc002lbo.1_Missense_Mutation_p.P1306L|EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_5'UTR|EPG5_uc002lbn.2_Missense_Mutation_p.P181L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	1306					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGGCAGGAGGGGGTGATCAGA	0.557000														75			10		0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38679711	38679711	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:38679711C>T	uc021rsi.1	+	0	1117	c.1117C>T	c.(1117-1119)Ctg>Ttg	p.L373L	SSTR1_uc001wul.1_Silent_p.L373L	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	373					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)	ACCTGAGAACCTGGAGTCCGG	0.662000														77			15		0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163939	141163939	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:141163939C>T	uc010hup.3	+	1	2759	c.2712C>T	c.(2710-2712)ttC>ttT	p.F904F	ZBTB38_uc003etw.3_Silent_p.F903F|ZBTB38_uc010hun.3_Silent_p.F900F|ZBTB38_uc010huo.3_Silent_p.F903F|ZBTB38_uc003ety.3_Silent_p.F903F|ZBTB38_uc021xes.1_Silent_p.F903F	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	903					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F903F(2)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTGAAGTGTTCGATGACGCAA	0.507000														53			24		0	0	1	0	0
UBA3	9039	broad.mit.edu	37	3	69111302	69111302	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:69111302G>A	uc003dno.3	-	9	742	c.722C>T	c.(721-723)tCt>tTt	p.S241F	UBA3_uc003dnq.3_Missense_Mutation_p.S227F|UBA3_uc011bfy.2_Missense_Mutation_p.S64F|UBA3_uc011bfz.2_Missense_Mutation_p.S64F	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA.	241					protein neddylation|proteolysis	nucleus	ATP binding|acid-amino acid ligase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		CCTGGGCATAGATGCAATGGT	0.368000														119			53		0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62291316	62291316	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62291316G>A	uc002jed.3	-	1	413	c.262C>T	c.(262-264)Cct>Tct	p.P88S	TEX2_uc002jec.3_Missense_Mutation_p.P88S|TEX2_uc002jee.3_Missense_Mutation_p.P88S	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	88					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GAGGCAGCAGGGCCGGCGGGG	0.582000														209			82		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180053204	180053204	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:180053204C>T	uc003mlz.4	-	8	1244	c.1165G>A	c.(1165-1167)Gtg>Atg	p.V389M	FLT4_uc003mma.4_Missense_Mutation_p.V389M|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.2_Missense_Mutation_p.V389M	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	389	Ig-like C2-type 4.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCCTCTGTCACCTCCTTGAGC	0.627000														80			37		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31422419	31422420	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31422419_31422420CC>TT	uc010cap.1	+	12	1428_1429	c.1379_1380CC>TT	c.(1378-1380)tcc>tTT	p.S460F	ITGAD_uc002ebv.1_Missense_Mutation_p.S460F	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	460					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTCGGGGCCTCCCTCTGCTCTG	0.663000														116			18		0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128865607	128865607	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:128865607C>T	uc002tps.3	+	3	551	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	UGGT1_uc010fme.1_Intron|UGGT1_uc002tpr.3_Missense_Mutation_p.R101C	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	125					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCTGTCCCTTCGTTCTTACTC	0.433000														102			51		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27157863	27157863	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:27157863C>T	uc011lno.2	+	1	529	c.87C>T	c.(85-87)atC>atT	p.I29I	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Silent_p.I29I|TEK_uc003zqi.4_Silent_p.I29I|TEK_uc011lnp.2_Intron|TEK_uc003zqj.1_Silent_p.I6I	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	29					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TGATCTTGATCAATTCCCTAC	0.463000														163			83		0	0	1	0	0
TTYH2	94015	broad.mit.edu	37	17	72249256	72249256	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72249256C>T	uc002jkc.3	+	11	1327	c.1296C>T	c.(1294-1296)ccC>ccT	p.P432P	TTYH2_uc010wqw.2_Silent_p.P411P|TTYH2_uc002jkd.3_Silent_p.P111P	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA.	432						chloride channel complex|plasma membrane	chloride channel activity|protein binding	p.P432L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						ATGATGACCCCTTTAACCCCC	0.582000														193			56		0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72742623	72742623	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:72742623G>A	uc003tya.2	+	1	235	c.103G>A	c.(103-105)Gac>Aac	p.D35N	FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Missense_Mutation_p.D30N|FKBP6_uc010lbe.1_Non-coding_Transcript|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	35					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.D35E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CATCTCGGGGGACCGGGGCGT	0.632000														41			9		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47602361	47602361	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47602361G>A	uc003gxm.3	-	20	2909	c.2816C>T	c.(2815-2817)cCa>cTa	p.P939L	CORIN_uc011bzf.2_Missense_Mutation_p.P800L|CORIN_uc011bzg.2_Missense_Mutation_p.P872L	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	939	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CAGCTTAAATGGCACTGaatt	0.363000														37			17		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237936946	237936946	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:237936946C>T	uc001hyl.1	+	86	11893	c.11773C>T	c.(11773-11775)Cag>Tag	p.Q3925*	RYR2_uc010pya.2_Nonsense_Mutation_p.Q340*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3925					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)			AGAGTATATTCAGGTAAACAT	0.368000														24			12		0	0	1	0	0
UCHL1	7345	broad.mit.edu	37	4	41263915	41263915	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:41263915C>T	uc003gvo.3	+	5	530	c.434C>T	c.(433-435)gCc>gTc	p.A145V	UCHL1_uc003gvp.3_Missense_Mutation_p.A64V	NM_004181	NP_004172	P09936	UCHL1_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA.	145					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	p.A145A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GCCCATGATGCCGTGGCACAG	0.458000														42			6		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954365	35954365	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35954365C>T	uc003jjv.2	-	6	1704	c.1511G>A	c.(1510-1512)gGg>gAg	p.G504E	UGT3A1_uc003jjw.2_Non-coding_Transcript	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	504						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCAGCTTCCCACAAAGCCA	0.587000														49			22		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56520202	56520202	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56520202G>A	uc002qmj.3	+	2	491	c.491G>A	c.(490-492)aGc>aAc	p.S164N	NLRP5_uc002qmi.3_Missense_Mutation_p.S164N	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	164						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CAAGGACCAAGCAAGGAAAAA	0.468000														19			4		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825433	74825433	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:74825433G>A	uc021rwl.1	+	0	1947	c.1947G>A	c.(1945-1947)acG>acA	p.T649T	VRTN_uc001xpw.4_Silent_p.T649T	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	649					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						TCGCTACCACGAAGTTCAAGG	0.612000														51			22		0	0	1	0	0
LYZL1	84569	broad.mit.edu	37	10	29580895	29580895	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:29580895G>A	uc001iul.3	+	1	294	c.237G>A	c.(235-237)agG>agA	p.R79R		NM_032517	NP_115906	Q6UWQ5	LYZL1_HUMAN	Homo sapiens lysozyme-like 1 (LYZL1), mRNA.	33					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				TATTCTCGAGGGCTGGCCTGG	0.522000														23			26		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58711093	58711094	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58711093_58711094GG>AA	uc001nnh.2	+	1	152_153	c.102_103GG>AA	c.(100-105)caggat>caAAat	p.D35N	GLYATL1_uc001nnf.3_5'UTR|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_5'UTR|GLYATL1_uc001nnj.2_5'UTR	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	0						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	ggtacctgcaggatccaattgt	0.470000														43			13		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29294506	29294507	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29294506_29294507CC>TT	uc002rmt.2	-	0	2621_2622	c.2621_2622GG>AA	c.(2620-2622)agg>aAA	p.R874K		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	874					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCCATGTTCTCCTGGTGGGGCC	0.624000														66			23		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10721541	10721541	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:10721541C>T	uc002czz.1	-	6	1429	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	453					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.E453K(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						ATGGCGAGCTCGTGCTCCAGC	0.637000														51			11		0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6898505	6898505	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6898505C>T	uc010rat.2	+	0	650	c.627C>T	c.(625-627)ctC>ctT	p.L209L		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TATTCATTCTCTTTCCTTTCT	0.507000														77			41		0	0	1	0	0
LOC100505782	100505782	broad.mit.edu	37	17	39566079	39566079	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39566079C>T	uc021txj.1	+	1		c.1500C>T								Homo sapiens uncharacterized LOC100505782 (LOC100505782), non-coding RNA.																		CACTTGGCTCCTTCCCATCCC	0.522000														23			5		0	0	1	0	0
CSH1	1442	broad.mit.edu	37	17	61972439	61972439	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61972439G>A	uc002jcs.2	-	4	747	c.597C>T	c.(595-597)gtC>gtT	p.V199V		NM_001317	NP_001308	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 1 (placental lactogen) (CSH1), mRNA.	199					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GGAATGTCTCGACCTTGTCCA	0.572000									Russell-Silver syndrome					164			16		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79693265	79693265	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:79693265G>A	uc001sys.3	+	8	1415	c.744G>A	c.(742-744)atG>atA	p.M248I	SYT1_uc001syt.3_Missense_Mutation_p.M248I|SYT1_uc001syu.3_Missense_Mutation_p.M245I|SYT1_uc001syv.3_Missense_Mutation_p.M248I	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	248	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AAGTCCCTATGAACACAGTGG	0.418000														125			39		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485045	97485045	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:97485045C>T	uc001vmw.3	+	1	1033	c.1009C>T	c.(1009-1011)Ctg>Ttg	p.L337L		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	337						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AAACACCATCCTGTTGCAGAG	0.488000														94			32		0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939021	76939021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:76939021G>A	uc004ecp.4	-	8	1959	c.1727C>T	c.(1726-1728)tCa>tTa	p.S576L	ATRX_uc004ecq.4_Missense_Mutation_p.S538L|ATRX_uc004eco.4_Missense_Mutation_p.S361L|ATRX_uc004ecr.2_Intron|ATRX_uc010nlx.1_Intron|ATRX_uc010nly.1_Missense_Mutation_p.S521L	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	576					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)	TGTAGTTTTTGATTTAATACC	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							165			43		0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	284265	284265	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:284265G>A	uc010qvs.2	+	5	2237	c.2237G>A	c.(2236-2238)cGa>cAa	p.R746Q	NLRP6_uc010qvt.2_Missense_Mutation_p.R745Q	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	746						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCGGTCTGCCGAGACCTTTCT	0.632000														31			11		0	0	1	0	0
MS4A2	2206	broad.mit.edu	37	11	59857212	59857212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59857212C>T	uc001nop.3	+	1	206	c.104C>T	c.(103-105)tCa>tTa	p.S35L	MS4A2_uc009ymu.3_Missense_Mutation_p.S35L|MS4A2_uc021qka.1_Missense_Mutation_p.S35L	NM_000139	NP_000130	Q01362	FCERB_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA.	35					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GAAGTATCTTCAGGCAGACTA	0.468000														77			36		0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50941853	50941853	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50941853G>A	uc003blp.2	-	13	2122	c.2091C>T	c.(2089-2091)tcC>tcT	p.S697S	LMF2_uc003blo.2_Silent_p.S672S	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	697						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCGAACTACTGGAGCAGGGGT	0.677000														28			15		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99582506	99582506	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:99582506G>A	uc001vnt.2	-	2	307	c.252C>T	c.(250-252)gcC>gcT	p.A84A	DOCK9_uc001vnw.2_Silent_p.A83A|DOCK9_uc021rlw.1_Silent_p.A83A|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.A84A|DOCK9_uc010tis.1_Silent_p.A83A|DOCK9_uc010tit.1_Silent_p.A84A	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	84	Interaction with activated CDC42 (By similarity).				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.A84V(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTCTCAGGATGGCCGTCTGGA	0.552000														11			6		0	0	1	0	0
MIR1324	100302212	broad.mit.edu	37	3	75679997	75679997	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:75679997C>T	uc021xar.1	+	0		c.84C>T								Homo sapiens microRNA 1324 (MIR1324), microRNA.																		TATGCACTTTCCTGGAGGCTC	0.512000														55			6		0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133340	57133340	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57133340C>T	uc002qnm.4	+	2	923	c.685C>T	c.(685-687)Ctc>Ttc	p.L229F	ZNF71_uc021vcg.1_Missense_Mutation_p.L229F	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	229						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GACTTCCTCTCTCACCCAGCA	0.642000														55			19		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114252	117114252	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:117114252C>T	uc003pxj.1	-	5	1856	c.1834G>A	c.(1834-1836)Ggc>Agc	p.G612S	GPRC6A_uc003pxk.1_Missense_Mutation_p.G437S|GPRC6A_uc003pxl.1_Missense_Mutation_p.G541S	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	612					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AATATTATGCCAACAACCAGA	0.418000														63			34		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75866417	75866417	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:75866417C>T	uc003kek.3	+	3	538	c.316C>T	c.(316-318)Cat>Tat	p.H106Y		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	106	CH.				small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GTCTGGCCTTCATTTTCGACA	0.433000														78			25		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50958925	50958925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50958925C>T	uc009xog.3	-	5	971	c.937G>A	c.(937-939)Gag>Aag	p.E313K	OGDHL_uc001jie.3_Missense_Mutation_p.E286K|OGDHL_uc010qgt.2_Missense_Mutation_p.E229K|OGDHL_uc010qgu.2_Missense_Mutation_p.E77K|OGDHL_uc009xoh.2_Missense_Mutation_p.E77K	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	286					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ATCCCCATCTCGCTGGATTTG	0.582000														25			5		0	0	1	0	0
RIMS4	140730	broad.mit.edu	37	20	43384806	43384806	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43384806C>T	uc010ggu.3	-	5	849	c.782G>A	c.(781-783)aGc>aAc	p.S261N	RIMS4_uc002xms.3_Missense_Mutation_p.S260N	NM_001205317	NP_001192246	Q9H426	RIMS4_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 4 (RIMS4), transcript variant 1, mRNA.	260					exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CCCCACGGTGCTCTCGAGGGA	0.677000														105			52		0	0	1	0	0
FCER2	2208	broad.mit.edu	37	19	7755310	7755310	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7755310G>A	uc002mhn.3	-	8	820	c.603C>T	c.(601-603)atC>atT	p.I201I	FCER2_uc021unx.1_Silent_p.I200I|FCER2_uc002mhm.2_Silent_p.I201I|FCER2_uc010xjt.2_Silent_p.I123I	NM_001220500	NP_001207429	P06734	FCER2_HUMAN	Homo sapiens Fc fragment of IgE, low affinity II, receptor for (CD23) (FCER2), transcript variant 3, mRNA.	201	C-type lectin.				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CCGGGCTGTGGATGCTGACCA	0.637000														53			17		0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93742422	93742422	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:93742422C>T	uc001khr.3	+	17	2225	c.2127C>T	c.(2125-2127)tcC>tcT	p.S709S	BTAF1_uc001khs.1_Silent_p.S379S|BTAF1_uc001kht.1_Silent_p.S147S	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	709					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CAGCTGAATCCCTGGGCCAGT	0.408000														84			34		0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135347379	135347379	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:135347379C>T	uc001lnj.1	+	5	978	c.945C>T	c.(943-945)ctC>ctT	p.L315L	CYP2E1_uc001lnk.1_Silent_p.L178L|CYP2E1_uc009ybl.1_Silent_p.L116L|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_Silent_p.L116L	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	315					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TCCTGATTCTCATGAAATACC	0.542000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					62			28		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90747245	90747245	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90747245C>T	uc011lti.2	-	3	736	c.707G>A	c.(706-708)cGg>cAg	p.R236Q		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	236																	AGTGGAGTCCCGCAGGGGAGG	0.592000														121			43		0	0	1	0	0
DOK3	79930	broad.mit.edu	37	5	176931397	176931397	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176931397G>A	uc003mhk.3	-	5	1083	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	DOK3_uc003mhh.4_Intron|DOK3_uc003mhi.4_Intron|DOK3_uc003mhj.4_Intron	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Homo sapiens docking protein 3 (DOK3), transcript variant 1, mRNA.	360	Pro-rich.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGGGGTCCGGGCTCGGCCAGG	0.687000														25			4		0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135554173	135554173	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135554173C>T	uc010mzv.3	+	1	1425	c.1167C>T	c.(1165-1167)agC>agT	p.S389S	GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	389					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GTAGTTGCAGCTTAGTAGTGG	0.443000														123			56		0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117118261	117118261	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117118261G>A	uc004biq.3	-	12	3137	c.3002C>T	c.(3001-3003)cCt>cTt	p.P1001L	AKNA_uc004bin.3_Missense_Mutation_p.P248L|AKNA_uc004bio.3_Missense_Mutation_p.P461L|AKNA_uc004bip.3_Missense_Mutation_p.P920L|AKNA_uc004bir.3_Missense_Mutation_p.P1001L|AKNA_uc004bis.3_Missense_Mutation_p.P1001L|AKNA_uc010mve.2_Missense_Mutation_p.P882L|AKNA_uc004bit.1_5'Flank	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1001					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CTGCCGGAGAGGCCCACTTGG	0.612000														39			28		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75968884	75968884	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:75968884C>T	uc002baw.3	-	9	6069	c.5976G>A	c.(5974-5976)gtG>gtA	p.V1992V		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1992	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCCGCCCGCCCACCAGGAGAT	0.617000														113			16		0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67861377	67861377	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:67861377G>A	uc001ddu.3	+	15	2834	c.2194G>A	c.(2194-2196)Gga>Aga	p.G732R	IL12RB2_uc010oqi.2_3'UTR|IL12RB2_uc010oqj.2_3'UTR|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.G646R|IL12RB2_uc010oqm.2_3'UTR|IL12RB2_uc010oqn.2_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.	732					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AAGGGAAAAAGGAATCCAAGG	0.532000														52			18		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58149057	58149057	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58149057G>A	uc003djj.2	+	43	7363	c.7198_splice	c.e43+1	p.G2400_splice	FLNB_uc010hne.2_Splice_Site_p.G2431_splice|FLNB_uc003djk.2_Splice_Site_p.G2389_splice|FLNB_uc010hnf.2_Splice_Site_p.G2376_splice|FLNB_uc003djl.2_Splice_Site_p.G2220_splice|FLNB_uc003djm.2_Splice_Site_p.G2207_splice|BC041347_uc003djn.3_Non-coding_Transcript	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2400	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGGCACCACAGGTAACCCACT	0.572000														37			21		0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95694267	95694267	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:95694267C>T	uc001tdz.2	+	11	2263	c.2158C>T	c.(2158-2160)Ccc>Tcc	p.P720S	VEZT_uc001tds.3_Missense_Mutation_p.P672S|VEZT_uc001tdv.3_Missense_Mutation_p.P693S|VEZT_uc009ztb.2_Non-coding_Transcript|VEZT_uc009ztc.1_Missense_Mutation_p.P85S|VEZT_uc001tdy.2_Non-coding_Transcript	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.	720						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CTCATTACAGCCCTCCATTAA	0.507000														38			13		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56138249	56138249	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:56138249G>A	uc002xyn.4	+	4	939	c.776G>A	c.(775-777)gGg>gAg	p.G259E	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	259					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AAGGAGGAAGGGTGGCTGGCA	0.597000														64			32		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49662672	49662672	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49662672C>T	uc003cxe.4	+	1	603	c.489C>T	c.(487-489)ccC>ccT	p.P163P		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	163					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGATCGCCCCCCTTCCCAGCA	0.612000														88			32		0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97426937	97426937	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:97426937C>T	uc002swx.3	+	0	299	c.201C>T	c.(199-201)ttC>ttT	p.F67F		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	67					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GCATCATCTTCGTGTCCGAGG	0.647000														47			16		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88583862	88583862	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:88583862G>A	uc003hqv.3	+	5	1036	c.932G>A	c.(931-933)aGa>aAa	p.R311K	DMP1_uc003hqw.3_Missense_Mutation_p.R295K	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	311					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CAACCCAGGAGAGACAGCAAG	0.517000														76			8		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155451384	155451384	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155451384G>A	uc009wqq.3	-	2	1757	c.1277C>T	c.(1276-1278)gCc>gTc	p.A426V	ASH1L_uc001fkt.3_Missense_Mutation_p.A426V|ASH1L_uc009wqr.1_Missense_Mutation_p.A426V	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	426					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)			CAGTGCTTCGGCTTTAAGGTT	0.418000														81			46		0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5540495	5540495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:5540495G>A	uc003soo.2	-	2	1499	c.1405C>T	c.(1405-1407)Ccc>Tcc	p.P469S	FBXL18_uc003son.4_Missense_Mutation_p.P469S	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	469									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GAGGGCTGGGGGCACGCCTGG	0.667000														20			14		0	0	1	0	0
TTC23	64927	broad.mit.edu	37	15	99740154	99740154	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:99740154G>A	uc002bur.3	-	7	1260	c.729C>T	c.(727-729)ctC>ctT	p.L243L	TTC23_uc002bus.3_Silent_p.L243L|TTC23_uc002but.3_Silent_p.L243L|TTC23_uc002buu.3_Silent_p.L243L|TTC23_uc002buv.3_Silent_p.L243L|TTC23_uc002bux.3_Silent_p.L243L|TTC23_uc002buw.3_Silent_p.L243L|TTC23_uc010boq.3_Non-coding_Transcript|TTC23_uc002buy.3_Silent_p.L243L|TTC23_uc010bor.3_Silent_p.L243L|TTC23_uc002buz.2_Silent_p.L243L	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	243							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			ATACATCGTGGAGTCCCAGGG	0.468000														111			79		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5011051	5011051	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5011051C>T	uc001lzv.3	+	1	291	c.273C>T	c.(271-273)tcC>tcT	p.S91S		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	91					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCGACACCTCCATCTCGCCAG	0.517000														50			20		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73405711	73405711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73405711G>A	uc001jrx.4	+	11	1648	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	CDH23_uc001jrw.4_Missense_Mutation_p.E420K|CDH23_uc001jry.3_Missense_Mutation_p.E420K|CDH23_uc001jrz.3_Missense_Mutation_p.E420K|CDH23_uc021psl.1_Missense_Mutation_p.E422K	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	422	Cadherin 4.				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						ACTGGACTACGAGACCGTGGA	0.592000														50			22		0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3312936	3312936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3312936G>A	uc002wii.2	-	10	1105	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S	C20orf194_uc002wij.3_Missense_Mutation_p.P91S|C20orf194_uc002wik.2_Missense_Mutation_p.P26S|C20orf194_uc010gay.1_Non-coding_Transcript	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	352										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CCCAAGTAAGGAACATGAGTA	0.383000														17			9		0	0	1	0	0
NECAP1	25977	broad.mit.edu	37	12	8245339	8245339	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8245339C>T	uc001qtx.2	+	4	529	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	NECAP1_uc001qty.2_Silent_p.L9L	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	Homo sapiens NECAP endocytosis associated 1 (NECAP1), transcript variant 1, mRNA.	151					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TAAGTTGGATCTGGGCTTCAA	0.408000														34			16		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21992957	21992957	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21992957G>A	uc001wbe.3	-	1	1187	c.905C>T	c.(904-906)cCt>cTt	p.P302L	SALL2_uc010tly.2_Missense_Mutation_p.P300L|SALL2_uc010tlz.1_Missense_Mutation_p.P165L|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.P167L|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	302							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGCTGGGGAAGGGGCAGGGGT	0.612000														29			15		0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6679508	6679508	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:6679508G>A	uc022aqv.1	-	4	841	c.690C>T	c.(688-690)atC>atT	p.I230I	XKR5_uc003wqq.3_Silent_p.I67I	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	230						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCTGTCGATGATGTCACTCT	0.587000														7			8		0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967571	48967571	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:48967571C>T	uc002pje.1	+	2	1253	c.848C>T	c.(847-849)cCt>cTt	p.P283L	KCNJ14_uc002pjf.1_Missense_Mutation_p.P283L	NM_013348	NP_733838	Q9UNX9	IRK14_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 14 (KCNJ14), transcript variant 1, mRNA.	283						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)		TCTGCCAGTCCTCTGTATGAG	0.577000														12			7		0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174224139	174224139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:174224139G>A	uc002uic.1	+	2	435	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	CDCA7_uc002uid.1_Intron|CDCA7_uc010zej.1_Missense_Mutation_p.E58K|CDCA7_uc010zek.1_Intron	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	0					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.E102K(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TGTCACTAACGAACTGGCCGG	0.423000														73			28		0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137777709	137777709	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:137777709G>A	uc004cfg.1	+	5	535	c.525G>A	c.(523-525)ctG>ctA	p.L175L	FCN2_uc004cfh.1_Silent_p.L137L	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	175	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	p.L175L(2)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AGTTCTGGCTGGGGAATGACA	0.672000														42			20		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4153693	4153693	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:4153693G>A	uc003smx.3	+	24	3749	c.3610G>A	c.(3610-3612)Ggg>Agg	p.G1204R	SDK1_uc010kso.3_Missense_Mutation_p.G480R	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1204	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.G1204R(2)|p.N1203N(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCAGTACAACGGGAACCCCGA	0.587000														38			17		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76511007	76511007	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76511007C>T	uc010dhp.2	-	25	4087	c.3962G>A	c.(3961-3963)aGg>aAg	p.R1321K		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTCCAAAGACCTCATGTCCTT	0.507000														97			41		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43872643	43872643	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:43872643G>A	uc001uza.4	-	11	1585	c.1285C>T	c.(1285-1287)Ctg>Ttg	p.L429L	ENOX1_uc001uzc.4_Silent_p.L429L|ENOX1_uc001uzb.4_Silent_p.L429L	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	429					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TCCTCTTTCAGAGCGTAGGCC	0.527000														75			32		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701922	56701923	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56701922_56701923CC>TT	uc010ygh.2	-	3	761_762	c.761_762GG>AA	c.(760-762)ggg>gAA	p.G254E		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	254					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGGGTTCCTTCCCCTCCTTTGC	0.485000														81			37		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92564840	92564840	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92564840C>T	uc001pdj.4	+	12	9551	c.9534C>T	c.(9532-9534)ttC>ttT	p.F3178F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3178	Cadherin 29.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGGGTCTTCTCCATTGACA	0.557000										TCGA Ovarian(4;0.039)				29			4		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32636038	32636038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:32636038C>T	uc001mtv.3	-	15	1870	c.1826G>A	c.(1825-1827)gGg>gAg	p.G609E		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	609										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTCTCGAGTCCCTGGAAGCAA	0.333000														36			14		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120288	38120288	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38120288C>T	uc003atr.3	+	6	1996	c.1725C>T	c.(1723-1725)ccC>ccT	p.P575P	TRIOBP_uc003atu.3_Silent_p.P403P|TRIOBP_uc003atq.1_Silent_p.P575P|TRIOBP_uc003ats.1_Silent_p.P403P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	575					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGACAACCCCAGAACATCCT	0.582000														179			31		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124181467	124181467	+	Missense_Mutation	SNP	G	A	A	rs139954729	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124181467G>A	uc003ehg.3	+	24	4139	c.4012G>A	c.(4012-4014)Gat>Aat	p.D1338N	KALRN_uc010hrv.1_Missense_Mutation_p.D1329N|KALRN_uc003ehf.1_Missense_Mutation_p.D1338N|KALRN_uc011bjy.1_Missense_Mutation_p.D1329N|KALRN_uc003ehh.1_Missense_Mutation_p.D684N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1338	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGAGATCTACGATTTCCATAA	0.483000														40			10		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56226561	56226561	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56226561G>A	uc002qly.3	-	5	2389	c.2361C>T	c.(2359-2361)tcC>tcT	p.S787S		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	787						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGGAGTCACAGGAGACAGAGG	0.512000														38			14		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3417829	3417829	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3417829G>A	uc001akl.3	-	18	2585	c.2358C>T	c.(2356-2358)tgC>tgT	p.C786C	MEGF6_uc001akk.3_Silent_p.C681C	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	786	EGF-like 13.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GGCATGCTGGGCAGATCTCCT	0.677000														17			10		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929812	121929812	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:121929812G>A	uc004bkc.2	-	7	2292	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	612					cell cycle arrest|cell death	cytoplasm	protein binding			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						GGACCGTCTCGAAAAATGTTT	0.552000														86			42		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949527	89949527	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89949527G>A	uc003kju.3	+	19	4232	c.4136G>A	c.(4135-4137)gGa>gAa	p.G1379E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1379					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACGGTAATGGAAGCATCTAC	0.408000														19			4		0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6782352	6782352	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:6782352G>A	uc003wqt.3	-	1	332	c.291C>T	c.(289-291)ttC>ttT	p.F97F		NM_001926	NP_001917	Q01524	DEF6_HUMAN	Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA.	97					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		AGAGGCAGCAGAATCTGTGGT	0.418000														82			7		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39606906	39606906	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39606906G>A	uc003xnj.3	-	17	2014	c.1939C>T	c.(1939-1941)Caa>Taa	p.Q647*	ADAM2_uc003xnk.3_Nonsense_Mutation_p.Q628*|ADAM2_uc011lck.2_Nonsense_Mutation_p.Q584*|ADAM2_uc003xnl.3_Nonsense_Mutation_p.Q491*	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	647					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)		AGATCTGATTGAACTGAGCAA	0.383000														120			36		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111671488	111671488	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:111671488C>T	uc010hqa.3	+	10	3112	c.2701C>T	c.(2701-2703)Cga>Tga	p.R901*	PHLDB2_uc003dyc.3_Nonsense_Mutation_p.R885*|PHLDB2_uc003dyd.3_Nonsense_Mutation_p.R858*|PHLDB2_uc003dyg.3_Nonsense_Mutation_p.R901*|PHLDB2_uc003dyh.3_Nonsense_Mutation_p.R858*|PHLDB2_uc003dyi.3_Intron	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	901						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TACTTTGCCTCGAAAGAAAAC	0.443000														82			31		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093446	30093446	+	RNA	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:30093446T>G	uc010dmc.3	+	0		c.1821T>G								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		CCACCCGGCTTGATTCAGCGA	0.542000														154			91		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104641424	104641424	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:104641424G>A	uc001yos.4	+	11	2299	c.2299G>A	c.(2299-2301)Gac>Aac	p.D767N		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	767					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTGGACCCCGACCGCACGCC	0.726000														15			4		0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43652765	43652765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:43652765G>A	uc004dfz.4	-	7	1005	c.829C>T	c.(829-831)Cct>Tct	p.P277S	MAOB_uc011mkx.2_Missense_Mutation_p.P261S|MAOB_uc011mky.2_Missense_Mutation_p.P261S	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	277					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	ATTGGCAGAGGGGGATTGAAG	0.413000														34			48		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27204092	27204092	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:27204092G>A	uc010hfk.3	-	10	1035	c.806_splice	c.e10-1	p.A269_splice	NEK10_uc003cds.1_Splice_Site_p.A354_splice|NEK10_uc010hfj.3_Intron			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	957							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGGCAGCAAAGCTGAAGAAAT	0.418000														58			17		0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54364824	54364824	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:54364824C>T	uc003hag.4	-	4	1218	c.962G>A	c.(961-963)gGa>gAa	p.G321E	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.G225E|LNX1_uc003hah.4_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	321	PDZ 1.			G -> R (in Ref. 3; BAB71291).		cytoplasm	zinc ion binding			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)			AATGATGTCTCCTGGCAGTAG	0.488000														56			22		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566468	136566468	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136566468G>A	uc002tuu.1	-	7	3460	c.3449C>T	c.(3448-3450)tCc>tTc	p.S1150F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1150	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCAGCCCAGGGAGAACTGCAG	0.562000														60			39		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196952140	196952140	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:196952140C>T	uc001gts.4	+	1	312	c.184C>T	c.(184-186)Cct>Tct	p.P62S		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	62	Sushi 1.				complement activation, alternative pathway	extracellular region		p.P62H(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTTTGTGTCTCCTTCAAAATC	0.393000														90			33		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806039	54806039	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:54806039C>T	uc003pck.3	+	4	2386	c.2270C>T	c.(2269-2271)tCa>tTa	p.S757L		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	757										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAACTTGCTTCAAAGAAGGAA	0.383000														57			16		0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51685950	51685950	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51685950C>T	uc001ryg.3	-	9	992	c.940G>A	c.(940-942)Gag>Aag	p.E314K	BIN2_uc009zlz.3_Missense_Mutation_p.E282K|BIN2_uc001ryh.3_Missense_Mutation_p.E190K|BIN2_uc010sng.2_Missense_Mutation_p.E288K	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	314						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TCTAAGAGCTCCTTGATCTCA	0.517000														66			27		0	0	1	0	0
ADRA1D	146	broad.mit.edu	37	20	4229251	4229251	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:4229251G>A	uc002wkr.2	-	0	409	c.354C>T	c.(352-354)atC>atT	p.I118I		NM_000678	NP_000669	P25100	ADA1D_HUMAN	Homo sapiens adrenergic, alpha-1D-, receptor (ADRA1D), mRNA.	118					DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CCACTGAGAGGATGACAAGCA	0.652000														32			7		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90167845	90167845	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90167845C>T	uc002boe.3	+	19	4304	c.4304C>T	c.(4303-4305)cCt>cTt	p.P1435L	C15orf42_uc021sug.1_Missense_Mutation_p.P1434L	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1435					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CAGTCTCCTCCTGAAAGACGG	0.582000														82			67		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28714584	28714584	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28714584G>A	uc002kwn.3	-	11	2089	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	DSC1_uc002kwm.3_Silent_p.F609F	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	609	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TATCCAGAAAGAATTGAAAAG	0.353000														26			5		0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143310846	143310846	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:143310846C>T	uc003ywj.3	-	11	1583	c.1544G>A	c.(1543-1545)tGa>tAa	p.*515*	TSNARE1_uc011lju.2_Silent_p.*513*|TSNARE1_uc003ywk.3_Silent_p.*514*	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	0					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGGGTAGCATCACTTTCGGAC	0.517000														46			16		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160109728	160109728	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160109728C>T	uc001fvc.3	+	21	3120	c.2988C>T	c.(2986-2988)ttC>ttT	p.F996F	ATP1A2_uc001fvd.3_Silent_p.F715F	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	996					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCTCATCTTCATCTATGATG	0.577000														124			33		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118506066	118506066	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:118506066C>T	uc010jcl.1	+	23	5761	c.5580C>T	c.(5578-5580)acC>acT	p.T1860T	DMXL1_uc003ksd.2_Silent_p.T1860T|DMXL1_uc021ycw.1_Silent_p.T1687T	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1860										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TATTTTTTACCACTGCCAGTG	0.368000														41			11		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117977565	117977565	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117977565G>A	uc001two.2	-	9	1614	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	549	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.S581F(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACTGTGGGGAAGGGTGTAG	0.642000														34			7		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949435	89949435	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89949435G>A	uc003kju.3	+	19	4140	c.4044G>A	c.(4042-4044)agG>agA	p.R1348R	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1348					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATCCCTCCAGGAATAATACAA	0.448000														18			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057787	9057787	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9057787C>T	uc002mkp.3	-	2	29863	c.29659G>A	c.(29659-29661)Gag>Aag	p.E9887K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9889	Ser-rich.|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						GAGGTGGTCTCTTCAGAGGTG	0.453000														71			35		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139216447	139216447	+	Silent	SNP	C	T	T	rs143306197		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:139216447C>T	uc003leu.1	+	9	1660	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	485					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.F485F(2)		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)			ATGACAAGTTCGGGACAGGCA	0.607000														71			36		0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	888594	888594	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:888594G>A	uc009vjq.3	-	8	1022	c.963C>T	c.(961-963)tgC>tgT	p.C321C	NOC2L_uc001aby.4_Silent_p.C118C|NOC2L_uc001abz.4_Silent_p.C321C	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	321						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCTTGTGCCGGCAGACTCTGC	0.582000														43			4		0	0	1	0	0
SERPINA13	388007	broad.mit.edu	37	14	95108164	95108164	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:95108164G>A	uc001ydt.3	+	1	769	c.681G>A	c.(679-681)ggG>ggA	p.G227G						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						AGACCCAGGGGAAGCTCGGGG	0.592000														137			44		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83411176	83411176	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:83411176G>A	uc004eej.2	-	2	201	c.165C>T	c.(163-165)atC>atT	p.I55I	RPS6KA6_uc011mqt.2_Silent_p.I55I|RPS6KA6_uc011mqu.2_5'UTR|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	55					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GAGTAATAGGGATTTCTTTAA	0.363000														11			8		0	0	1	0	0
NECAB3	63941	broad.mit.edu	37	20	32258570	32258570	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:32258570G>A	uc002wzn.4	-	2	289	c.183C>T	c.(181-183)ttC>ttT	p.F61F	NECAB3_uc002wzm.4_Silent_p.F61F|NECAB3_uc002wzo.4_Non-coding_Transcript	NM_031232	NP_112509	Q96P71	NECA3_HUMAN	Homo sapiens N-terminal EF-hand calcium binding protein 3 (NECAB3), transcript variant 2, mRNA.	61	EF-hand.				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	Golgi cis cisterna|endoplasmic reticulum membrane|nucleus	calcium ion binding|oxidoreductase activity|protein binding			large_intestine(3)|lung(5)|skin(2)	10						AGTAATTCTGGAATTCCTCAA	0.592000														40			13		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87041247	87041247	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87041247G>A	uc003uiv.1	-	22	2962	c.2886C>T	c.(2884-2886)ctC>ctT	p.L962L	ABCB4_uc003uiw.1_Silent_p.L962L|ABCB4_uc003uix.1_Intron	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	962	ABC transmembrane type-1 2.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CATTCACAATGAGATATGCAC	0.323000														55			22		0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56388240	56388240	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:56388240G>A	uc010bfn.3	-	8	1686	c.1686C>T	c.(1684-1686)ccC>ccT	p.P562P	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Silent_p.P376P	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	465					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TAGGTGTCTGGGGAGCTTTAG	0.473000														16			6		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2795344	2795344	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2795344C>T	uc009zdu.1	+	47	6255	c.5942C>T	c.(5941-5943)tCc>tTc	p.S1981F	CACNA1C_uc001qkc.2_Missense_Mutation_p.S1917F|CACNA1C_uc001qjz.2_Missense_Mutation_p.S1898F|CACNA1C_uc001qkd.2_Missense_Mutation_p.S1917F|CACNA1C_uc001qke.2_Missense_Mutation_p.S1887F|CACNA1C_uc001qkf.2_Missense_Mutation_p.S1906F|CACNA1C_uc009zdw.1_Missense_Mutation_p.S1939F|CACNA1C_uc001qkg.2_Missense_Mutation_p.S1904F|CACNA1C_uc001qkh.2_Missense_Mutation_p.S1906F|CACNA1C_uc001qkl.2_Missense_Mutation_p.S1946F|CACNA1C_uc001qkj.2_Missense_Mutation_p.S1933F|CACNA1C_uc001qkk.2_Missense_Mutation_p.S1898F|CACNA1C_uc001qkn.2_Missense_Mutation_p.S1898F|CACNA1C_uc001qkm.2_Missense_Mutation_p.S1958F|CACNA1C_uc001qko.2_Missense_Mutation_p.S1918F|CACNA1C_uc001qkp.2_Missense_Mutation_p.S1898F|CACNA1C_uc001qkq.2_Missense_Mutation_p.S1926F|CACNA1C_uc001qku.2_Missense_Mutation_p.S1933F|CACNA1C_uc001qkr.2_Missense_Mutation_p.S1915F|CACNA1C_uc001qks.2_Missense_Mutation_p.S1898F|CACNA1C_uc001qkt.2_Missense_Mutation_p.S1917F|CACNA1C_uc009zdv.1_Missense_Mutation_p.S1895F|CACNA1C_uc001qkb.2_Missense_Mutation_p.S1898F|CACNA1C_uc001qki.1_Missense_Mutation_p.S1705F|CACNA1C_uc010sea.1_Missense_Mutation_p.S589F|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.S216F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1981					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGAAGGGCCTCCTTCCACCTG	0.582000														87			36		0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134256361	134256361	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:134256361G>A	uc011kpr.2	+	5	740	c.441G>A	c.(439-441)ggG>ggA	p.G147G		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	147							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TACAGACTGGGGATGACTTTT	0.418000														106			10		0	0	1	0	0
SLC35G1	159371	broad.mit.edu	37	10	95660749	95660749	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95660749C>T	uc001kjg.2	+	2	661	c.600C>T	c.(598-600)atC>atT	p.I200I	SLC35G1_uc001kji.3_Intron|SLC35G1_uc001kjf.2_Silent_p.I199I|SLC35G1_uc010qnw.2_Silent_p.I183I|SLC35G1_uc001kjj.3_Intron	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN	Homo sapiens solute carrier family 35, member G1 (SLC35G1), transcript variant 1, mRNA.	200	DUF6 1.					integral to membrane											TGATCCTTATCGTGAGACCAC	0.448000														54			22		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73567066	73567066	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73567066C>T	uc002joh.3	+	16	2215	c.2061C>T	c.(2059-2061)ggC>ggT	p.G687G	LLGL2_uc002joi.3_Silent_p.G687G|LLGL2_uc010dgg.2_Silent_p.G687G|LLGL2_uc002joj.3_Silent_p.G676G|LLGL2_uc010wsd.2_Silent_p.G314G	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	687					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGCGGCCAGGCCTCCAGAACA	0.642000														92			33		0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761363	55761363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55761363C>T	uc010riv.2	-	0	739	c.739G>A	c.(739-741)Gcc>Acc	p.A247T		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A247S(2)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGAATTATGGCTGTCAGGTGA	0.493000														81			12		0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158368777	158368777	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158368777G>A	uc010pih.2	-	0	480	c.480C>T	c.(478-480)gcC>gcT	p.A160A		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TGAGGTTGGTGGCCACCAAAG	0.473000														94			41		0	0	1	0	0
JMJD6	23210	broad.mit.edu	37	17	74720088	74720088	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74720088G>A	uc002jso.3	-	2	895	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	JMJD6_uc002jsn.1_Silent_p.L191L|METTL23_uc021udk.1_5'Flank|METTL23_uc002jsr.3_5'Flank|METTL23_uc021udl.1_5'Flank|METTL23_uc021udm.1_5'Flank|METTL23_uc002jst.3_5'Flank|METTL23_uc021udn.1_5'Flank|METTL23_uc002jsu.3_5'Flank	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	Homo sapiens jumonji domain containing 6 (JMJD6), transcript variant 2, mRNA.	191	JmjC.				RNA splicing|mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CTGGTTCCCAGAGGGTCGATG	0.527000														115			34		0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483453	32483453	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:32483453G>A	uc002hhu.3	-	0	373	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	33					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCCCATACACGAAGATGTGGC	0.612000														16			11		0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35043180	35043180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35043180G>A	uc003zvw.3	+	1	583	c.554G>A	c.(553-555)gGg>gAg	p.G185E	C9orf131_uc003zvu.3_Missense_Mutation_p.G137E|C9orf131_uc003zvv.3_Missense_Mutation_p.G112E|C9orf131_uc003zvx.3_Missense_Mutation_p.G150E	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	185										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ATAGCATCAGGGAACCGCCAG	0.567000														99			39		0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154296247	154296247	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154296247C>T	uc001feu.3	+	4	712	c.672C>T	c.(670-672)ttC>ttT	p.F224F	ATP8B2_uc001few.3_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	224					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.F224F(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACGTCTCTTCACCTACGTGG	0.627000														48			13		0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73522254	73522254	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:73522254C>T	uc003uaa.2	+	8	1333	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Silent_p.F339F|LIMK1_uc003uac.1_Silent_p.F165F	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	373	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	p.F373F(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				TGATCCGGTTCGACGAGGAGA	0.582000														4			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049182	9049182	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9049182C>T	uc002mkp.3	-	4	32653	c.32449G>A	c.(32449-32451)Gaa>Aaa	p.E10817K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10819	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						GTAGCTGGTTCACCAGGGGAG	0.483000														123			61		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1893043	1893043	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1893043C>T	uc002qxe.3	-	15	3317	c.2490G>A	c.(2488-2490)agG>agA	p.R830R	MYT1L_uc002qxd.3_Silent_p.R828R|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	830					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R829R(1)|p.R830G(1)|p.R829W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCTCGTCTATCCTCCGGGGTT	0.537000														72			24		0	0	1	0	0
PTPN7	5778	broad.mit.edu	37	1	202128409	202128409	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:202128409C>T	uc001gxn.2	-	2	1218	c.122_splice	c.e2+1	p.R41_splice	PTPN7_uc001gxl.2_Splice_Site_p.R80_splice|PTPN7_uc001gxm.2_Splice_Site_p.R146_splice|PTPN7_uc010ppx.2_Splice_Site_p.R115_splice|PTPN7_uc010ppw.2_Splice_Site_p.E7_splice|PTPN7_uc010ppy.2_Splice_Site|PTPN7_uc001gxo.1_5'Flank	NM_002832	NP_002823	P35236	PTN7_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 7 (PTPN7), transcript variant 1, mRNA.	41	Interaction with MAP kinases.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						AAGATCTCACCTCTCCTGCAG	0.627000														41			6		0	0	1	0	0
KIAA0528	9847	broad.mit.edu	37	12	22624383	22624383	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:22624383G>A	uc010sit.2	-	20	2542	c.2314C>T	c.(2314-2316)Ctt>Ttt	p.L772F	KIAA0528_uc010sir.2_Missense_Mutation_p.L585F|KIAA0528_uc010sis.2_Missense_Mutation_p.L770F|KIAA0528_uc001rfq.3_Missense_Mutation_p.L770F|KIAA0528_uc010siu.2_Missense_Mutation_p.L770F|KIAA0528_uc001rfr.3_Missense_Mutation_p.L761F	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	Homo sapiens KIAA0528 (KIAA0528), mRNA.	770							protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACATGGCAAAGGCAGCAGGGG	0.284000														69			38		0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123485474	123485474	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123485474T>A	uc001pyw.2	+	16	2170	c.1841T>A	c.(1840-1842)aTc>aAc	p.I614N	GRAMD1B_uc001pyx.2_Missense_Mutation_p.I607N|GRAMD1B_uc010rzw.2_Missense_Mutation_p.I567N|GRAMD1B_uc010rzx.1_Missense_Mutation_p.I567N|GRAMD1B_uc001pyy.2_Missense_Mutation_p.I298N	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	607						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		ACGCGGCATATCCCGGAGGAC	0.547000														25			9		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283101	5283101	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:5283101G>A	uc010zqw.2	-	1	748	c.740C>T	c.(739-741)tCc>tTc	p.S247F	PROKR2_uc010zqx.2_Missense_Mutation_p.S247F|PROKR2_uc010zqy.2_Missense_Mutation_p.S247F	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	247						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAGCTCCCGGGAGATCCTGGC	0.582000										HNSCC(71;0.22)				60			25		0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74625129	74625129	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74625129C>T	uc002jsh.3	-	1	970	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	ST6GALNAC1_uc002jsi.3_Missense_Mutation_p.E134K|ST6GALNAC1_uc002jsj.3_Non-coding_Transcript	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA.	266					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CTGTATTTTTCCTCAAAATCC	0.577000														99			48		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29142344	29142344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29142344G>A	uc011dlm.2	+	0	1034	c.932G>A	c.(931-933)gGg>gAg	p.G311E		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	311					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						TGGGAGTGGGGGAAGTGACAG	0.423000														45			24		0	0	1	0	0
TCRBV5S2	0	broad.mit.edu	37	7	142131446	142131446	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142131446C>T	uc010lnz.1	-	1	353	c.309G>A	c.(307-309)ggG>ggA	p.G103G	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRBV5S2_uc022ang.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GGGCCGAGTCCCCCAGCAACA	0.517000														81			37		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82834819	82834820	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:82834819_82834820CC>TT	uc003kii.3	+	7	6353_6354	c.5997_5998CC>TT	c.(5995-6000)ttcccc>ttTTcc	p.P2000S	VCAN_uc003kij.3_Missense_Mutation_p.P1013S|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P664S	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2000	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTTCAGCCTTCCCCTGGGAAGA	0.510000														54			22		0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42351874	42351874	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42351874C>T	uc010xwe.2	+	2	378	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	DMRTC2_uc002orr.1_5'UTR|DMRTC2_uc002ors.3_Silent_p.L99L	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	99					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						AAAGAAGCACCTGATGAGGAG	0.597000														10			6		0	0	1	0	0
CSH2	1443	broad.mit.edu	37	17	61949998	61949998	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61949998G>A	uc002jch.3	-	3	510	c.395C>T	c.(394-396)tCg>tTg	p.S132L	CSH2_uc002jci.3_Missense_Mutation_p.S132L|CSH2_uc002jcg.3_Intron	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	132					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						ATCGCTGTCCGAGGTGTCATA	0.597000														64			29		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108754254	108754254	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108754254C>T	uc003dxl.3	-	14	1479	c.1392G>A	c.(1390-1392)gaG>gaA	p.E464E	MORC1_uc011bhn.2_Silent_p.E464E	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	464					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTAAAGGTTTCTCCACATCGA	0.299000														54			8		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373565	126373565	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126373565G>A	uc003ifj.4	+	8	11394	c.11394G>A	c.(11392-11394)gtG>gtA	p.V3798V	FAT4_uc011cgp.2_Silent_p.V2096V|FAT4_uc003ifi.1_Silent_p.V1276V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3798					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V3798A(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGTAAAGGTGGAATCTGTGG	0.483000														54			11		0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068338	5068338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5068338C>T	uc010qyv.2	+	0	583	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TGGAAACATTCGTATCAATGG	0.438000														113			40		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57257937	57257937	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57257937C>T	uc001cym.4	-	1	955	c.549G>A	c.(547-549)agG>agA	p.R183R	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Silent_p.R183R	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	183										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCAGCTTTTTCCTGGGTTCCT	0.478000														113			35		0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54965696	54965696	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54965696C>T	uc002qfv.1	+	4	547	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	LENG8_uc002qfw.2_Missense_Mutation_p.P172S			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	135							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GCCCTCAAATCCCCCACATGG	0.682000														23			21		0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21689975	21689975	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:21689975C>T	uc002wsj.2	+	3	1229	c.1175C>T	c.(1174-1176)cCg>cTg	p.P392L	PAX1_uc010zsl.2_Missense_Mutation_p.P392L|PAX1_uc010zsm.2_Missense_Mutation_p.P368L	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	392					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCGGGCCCGCCGTGGCCGCCT	0.746000														10			31		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26222391	26222391	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26222391G>A	uc003abz.1	+	13	2961	c.2711G>A	c.(2710-2712)gGa>gAa	p.G904E	MYO18B_uc003aca.1_Missense_Mutation_p.G785E|MYO18B_uc010guy.1_Missense_Mutation_p.G785E|MYO18B_uc010guz.1_Missense_Mutation_p.G785E|MYO18B_uc011aka.1_Missense_Mutation_p.G58E|MYO18B_uc011akb.1_Missense_Mutation_p.G417E	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	904	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						AAGATGACAGGAGTGGACTGT	0.562000														83			29		0	0	1	0	0
WDR85	92715	broad.mit.edu	37	9	140468793	140468793	+	Silent	SNP	G	A	A	rs140349182	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140468793G>A	uc004cnk.1	-	4	665	c.507C>T	c.(505-507)tcC>tcT	p.S169S	WDR85_uc004cnm.1_5'UTR|WDR85_uc022bqk.1_Non-coding_Transcript	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	Homo sapiens WD repeat domain 85 (WDR85), mRNA.	169					peptidyl-diphthamide biosynthetic process from peptidyl-histidine			p.D168N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	8	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)		GCTGCCCTGTGGAGTCACTGC	0.567000														109			9		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158244	139158244	+	Silent	SNP	G	A	A	rs148245905		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:139158244G>A	uc003yuy.3	-	14	3669	c.3498C>T	c.(3496-3498)ctC>ctT	p.L1166L	FAM135B_uc003yux.3_Silent_p.L1067L|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.L728L|FAM135B_uc003yvb.3_Missense_Mutation_p.P694S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1166								p.L1166L(3)		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)			TTCCTCCAGGGAGCCCCAGTT	0.438000										HNSCC(54;0.14)				76			33		0	0	1	0	0
RFX1	5989	broad.mit.edu	37	19	14094343	14094343	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:14094343G>A	uc002mxv.3	-	2	656	c.384C>T	c.(382-384)acC>acT	p.T128T	RFX1_uc010dzi.2_Silent_p.T128T	NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	128					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TAGGAACGCCGGTCTGGCTGG	0.701000														14			5		0	0	1	0	0
RASL10B	91608	broad.mit.edu	37	17	34067503	34067503	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:34067503G>A	uc002hju.3	+	2	658	c.292G>A	c.(292-294)Gac>Aac	p.D98N		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	Homo sapiens RAS-like, family 10, member B (RASL10B), mRNA.	98	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGCTGCTTTGACAGCTTTGA	0.582000														57			33		0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122759917	122759917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:122759917G>A	uc004etu.3	-	24	2935	c.2903C>T	c.(2902-2904)tCt>tTt	p.S968F	THOC2_uc004etw.1_5'Flank|Mir_584_uc022cdq.1_5'Flank	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	968					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						ATTTTTGGTAGATTCTAAAAA	0.333000														10			12		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7110373	7110373	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7110373G>A	uc001mfc.2	+	0	209	c.22G>A	c.(22-24)Ggg>Agg	p.G8R		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	8	RRM.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGATCGCCCGGGGAAGCTGTT	0.632000														31			7		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17794534	17794534	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:17794534G>A	uc003ncg.4	-	24	3328	c.3168C>T	c.(3166-3168)atC>atT	p.I1056I	KIF13A_uc003ncf.3_Silent_p.I1056I|KIF13A_uc003nch.4_Silent_p.I1056I|KIF13A_uc003nci.4_Silent_p.I1056I	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1056					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTACACAGCCGATGGATACTG	0.468000														92			38		0	0	1	0	0
C5orf46	389336	broad.mit.edu	37	5	147281256	147281256	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:147281256G>A	uc010jgp.3	-	1	188	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	C5orf46_uc003lou.3_Missense_Mutation_p.L51F|C5orf46_uc003lov.4_Missense_Mutation_p.L51F	NM_206966	NP_996849	Q6UWT4	CE046_HUMAN	Homo sapiens chromosome 5 open reading frame 46 (C5orf46), mRNA.	51						extracellular region				NS(1)|lung(1)|prostate(1)	3						GTGCCCAGGAGGCTTAGGAAT	0.493000														58			10		0	0	1	0	0
HTRA3	94031	broad.mit.edu	37	4	8307825	8307825	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:8307825G>A	uc003gla.3	+	8	1531	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N		NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	442	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GGGGAACGACGACCTCCTCTT	0.657000														43			9		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139909534	139909534	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139909534G>A	uc004ckm.1	-	24	3850	c.3800C>T	c.(3799-3801)tCc>tTc	p.S1267F	ABCA2_uc022bpy.1_Missense_Mutation_p.S1168F|ABCA2_uc022bpz.1_Missense_Mutation_p.S1238F|ABCA2_uc011mem.1_Missense_Mutation_p.S1237F|ABCA2_uc004ckl.1_Missense_Mutation_p.S1168F|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1237					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGGGGGGCTGGATGCCAGCCC	0.642000														31			16		0	0	1	0	0
C14orf166	51637	broad.mit.edu	37	14	52460467	52460467	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:52460467C>T	uc010aod.3	+	2	343	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_016039	NP_057123	Q9Y224	CN166_HUMAN	Homo sapiens chromosome 14 open reading frame 166 (C14orf166), mRNA.	71						microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding			endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					ACTGTCCTTTCAAGATTCAAG	0.373000														62			20		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032513	21032513	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21032513C>T	uc010sil.2	+	8	1344	c.1279C>T	c.(1279-1281)Cct>Tct	p.P427S	SLCO1B3_uc001rek.3_Missense_Mutation_p.P427S|SLCO1B3_uc001rel.3_Missense_Mutation_p.P427S|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	427					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)					TCTATATTTCCCTCTAATCTG	0.308000														54			22		0	0	1	0	0
BEND6	221336	broad.mit.edu	37	6	56857310	56857310	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:56857310G>A	uc010kab.3	+	2	841	c.255G>A	c.(253-255)cgG>cgA	p.R85R	BEND6_uc003pdg.2_Non-coding_Transcript	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	Homo sapiens BEN domain containing 6 (BEND6), mRNA.	85								p.R85R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CAAACACCCGGAAAGAAAACA	0.383000														190			32		0	0	1	0	0
EVX2	344191	broad.mit.edu	37	2	176947013	176947013	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:176947013C>T	uc010zeu.2	-	1	778	c.592G>A	c.(592-594)Gag>Aag	p.E198K		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	198						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GCGATCTGCTCGCGGGTGAAC	0.711000														19			4		0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48133933	48133933	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48133933C>T	uc001rpz.4	-	22	2914	c.2364G>A	c.(2362-2364)gaG>gaA	p.E788E	AL831948_uc001rpv.3_Non-coding_Transcript|RAPGEF3_uc001rpw.3_Silent_p.E81E|RAPGEF3_uc001rpx.3_Silent_p.E203E|RAPGEF3_uc010sln.2_Silent_p.E243E|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Silent_p.E746E|RAPGEF3_uc009zkq.3_Silent_p.E746E	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	746					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CCAGCAGCCTCTCGAGGGCGG	0.657000														15			3		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052277	90052277	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:90052277C>T	uc003kju.3	+	55	11683	c.11587C>T	c.(11587-11589)Ctt>Ttt	p.L3863F	GPR98_uc003kjt.3_Missense_Mutation_p.L1569F|GPR98_uc003kjv.3_Missense_Mutation_p.L1463F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3863	Calx-beta 25.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCAGGATGACCTTCCTGAATT	0.408000														109			44		0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75898440	75898440	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:75898440G>A	uc001vjl.1	-	10	2478	c.2131C>T	c.(2131-2133)Ccc>Tcc	p.P711S	TBC1D4_uc010aer.2_Missense_Mutation_p.P711S|TBC1D4_uc010aes.2_Intron	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	711	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGGAAAGAGGGGGCAGTGAAG	0.453000														76			23		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132471079	132471079	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:132471079C>T	uc001ujn.3	+	5	2102	c.1950C>T	c.(1948-1950)ctC>ctT	p.L650L	EP400_uc021rgq.1_Silent_p.L649L|EP400_uc001ujm.3_Silent_p.L650L|EP400_uc001ujj.2_Silent_p.L613L|EP400_uc001ujk.3_Silent_p.L686L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	686					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CGACAAGGCTCCCTGTGGACC	0.652000														68			43		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72775173	72775173	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:72775173C>T	uc002llw.2	+	7	5549	c.5496C>T	c.(5494-5496)agC>agT	p.S1832S		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1832					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGACAGACAGCCCCTTCACCG	0.622000														166			45		0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49825032	49825033	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:49825032_49825033CC>TT	uc002itv.4	-	4	1179_1180	c.443_444GG>AA	c.(442-444)ggg>gAA	p.G148E	CA10_uc002itw.4_Missense_Mutation_p.G142E|CA10_uc002itx.4_Missense_Mutation_p.G142E|CA10_uc002ity.4_Missense_Mutation_p.G142E|CA10_uc002itz.2_Missense_Mutation_p.G142E	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	142					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GGTGCTCCGACCCTTGGCTGTC	0.510000														131			57		0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139428696	139428696	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:139428696C>T	uc002tvi.3	-	1	591	c.591G>A	c.(589-591)gcG>gcA	p.A197A		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	197	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CGGTCTTTTTCGCCCGATCTG	0.488000														25			13		0	0	1	0	0
MTAP	4507	broad.mit.edu	37	9	21859391	21859391	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21859391C>T	uc003zph.3	+	6	893	c.780C>T	c.(778-780)tcC>tcT	p.S260S	MTAP_uc003zpi.1_Intron|MTAP_uc010mit.3_Non-coding_Transcript|MTAP_uc011lnk.2_Silent_p.S277S|MTAP_uc011lnl.2_Silent_p.S193S	NM_002451	NP_002442	Q13126	MTAP_HUMAN	Homo sapiens methylthioadenosine phosphorylase (MTAP), mRNA.	260					nucleoside metabolic process	cytoplasm	S-methyl-5-thioadenosine phosphorylase activity|phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	AGATAGGGTCCACAGAATGGT	0.443000														32			11		0	0	1	0	0
C7orf34	135927	broad.mit.edu	37	7	142636722	142636722	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142636722C>T	uc003wca.2	+	0	120	c.79C>T	c.(79-81)Cct>Tct	p.P27S		NM_178829	NP_849151	Q96L11	CG034_HUMAN	Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA.	2						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CAGGTCCATGCCTCCCCTGGC	0.657000														51			13		0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735998	158735998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158735998C>T	uc010piq.2	-	0	475	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AAGGAAATTTCAACTACTGGC	0.537000														54			23		0	0	1	0	0
C1orf85	112770	broad.mit.edu	37	1	156264762	156264762	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156264762G>A	uc001foh.3	-	1	179	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	C1orf85_uc001fof.4_5'Flank	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	Homo sapiens chromosome 1 open reading frame 85 (C1orf85), mRNA.	56					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					ATATGAAGCAGGTTCTGCAGG	0.592000														42			6		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227915826	227915826	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:227915826C>T	uc021vxr.1	-	31	3118	c.3017G>A	c.(3016-3018)aGa>aAa	p.R1006K	COL4A4_uc021vxs.1_Missense_Mutation_p.R1006K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1006	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGTCCGTATCTTCCCGGCTC	0.547000														132			36		0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26672006	26672006	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26672006G>A	uc001bmd.4	-	1	1293	c.1143C>T	c.(1141-1143)gcC>gcT	p.A381A		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 8.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GAGTGAGCCGGGCCCCGGGGT	0.642000														54			7		0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110754783	110754783	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110754783C>T	uc009wfr.3	+	0	1448	c.662C>T	c.(661-663)tCc>tTc	p.S221F	KCNC4_uc001dzf.3_Missense_Mutation_p.S221F|KCNC4_uc001dzh.3_Missense_Mutation_p.S221F|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Missense_Mutation_p.S221F	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	221					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GATCCCTACTCCTCCCGGGCC	0.736000														9			5		0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95608714	95608714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:95608714G>A	uc004asu.1	-	4	2504	c.2355C>T	c.(2353-2355)ttC>ttT	p.F785F	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Silent_p.F787F|ZNF484_uc004asv.1_Silent_p.F749F|ZNF484_uc010mrb.1_Silent_p.F749F	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	785					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						ATCTGATGGTGAAGGCCTTTC	0.398000														141			69		0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35467931	35467931	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:35467931C>T	uc021wir.1	+	0	434	c.434C>T	c.(433-435)tCg>tTg	p.S145L	SLC5A3_uc002yto.3_Missense_Mutation_p.S145L|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	145						integral to plasma membrane	myo-inositol:sodium symporter activity	p.S145S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GATCTGTATTCGGGTGCCCTT	0.468000														238			49		0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134369698	134369698	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:134369698C>T	uc010hty.3	-	0	167	c.105G>A	c.(103-105)gcG>gcA	p.A35A	KY_uc011blw.2_Silent_p.A35A|KY_uc011blx.2_Silent_p.A35A|KY_uc003eqs.1_Intron	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	35						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGCTCGGGTTCGCCTGCTGGT	0.672000														20			9		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54783315	54783315	+	Silent	SNP	G	A	A	rs143879306	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54783315G>A	uc002qfb.3	-	4	809	c.543C>T	c.(541-543)ttC>ttT	p.F181F	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.F181F|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.F181F|LILRB2_uc010yet.2_Silent_p.F65F|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	181	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGCCCACGGAGAAGATGGCGC	0.577000														127			23		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32933287	32933287	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:32933287G>A	uc003cff.3	+	3	2654	c.2591G>A	c.(2590-2592)cGa>cAa	p.R864Q		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	864					multicellular organismal development	cytoplasm	zinc ion binding	p.R864Q(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCAACAATCGAATCCTCGTC	0.512000														161			17		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121492935	121492935	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121492935G>A	uc001pxx.3	+	44	6258	c.6129G>A	c.(6127-6129)tgG>tgA	p.W2043*	SORL1_uc010rzp.1_Nonsense_Mutation_p.W889*|SORL1_uc010rzq.1_Nonsense_Mutation_p.W658*	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2043	Fibronectin type-III 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCTGTTTTGGAAAAGCCTGG	0.353000														55			20		0	0	1	0	0
IL20RB	53833	broad.mit.edu	37	3	136728968	136728968	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:136728968C>T	uc003eri.2	+	6	1088	c.839C>T	c.(838-840)tCa>tTa	p.S280L	IL20RB_uc003erj.2_Non-coding_Transcript|IL20RB_uc010hud.2_Missense_Mutation_p.S138L|AX746877_uc003erk.1_5'Flank	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA.	280						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						ATAACCAATTCACCCCAGAAG	0.378000														112			45		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436900	179436900	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179436900C>T	uc021vsy.1	-	274	66480	c.66255G>A	c.(66253-66255)gtG>gtA	p.V22085V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V15780V|TTN_uc021vta.1_Silent_p.V15713V|TTN_uc021vtb.1_Silent_p.V15588V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23012							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)			TCTGCATCTCCACAATGTAGC	0.458000														21			14		0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961398	1961398	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:1961398G>A	uc010gaj.3	-	2	578	c.336C>T	c.(334-336)ctC>ctT	p.L112L	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Silent_p.L112L|PDYN_uc021vzt.1_Silent_p.L112L|PDYN_uc021vzu.1_Silent_p.L112L|PDYN_uc002wfv.3_Silent_p.L112L	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	112					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						AGATACTTGGGAGAAACTTGC	0.552000														72			38		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130789705	130789705	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:130789705C>T	uc003ysr.3	-	1	1011	c.129G>A	c.(127-129)aaG>aaA	p.K43K		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	43						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AACGAGAATCCTTCTTCTTTC	0.393000														85			40		0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56763866	56763866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:56763866C>T	uc001xch.3	+	5	1531	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	415					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						AATTAATTTTCCAAGGTCCAA	0.433000														25			4		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241659339	241659339	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241659339G>A	uc010fzk.3	-	45	5120	c.4873C>T	c.(4873-4875)Ccg>Tcg	p.P1625S	KIF1A_uc002vzy.3_Missense_Mutation_p.P1524S|KIF1A_uc002vzw.3_Missense_Mutation_p.P185S|KIF1A_uc002vzx.3_Missense_Mutation_p.P251S	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1524	PH.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CAGGGCTGCGGGGTCCTGGGA	0.682000														24			7		0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71692349	71692349	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:71692349C>T	uc001jql.3	+	29	2220	c.1684C>T	c.(1684-1686)Cca>Tca	p.P562S	COL13A1_uc021prz.1_Intron|COL13A1_uc021psa.1_Intron|COL13A1_uc021psb.1_Intron|COL13A1_uc001jqk.2_Missense_Mutation_p.P540S|COL13A1_uc021psc.1_Missense_Mutation_p.P543S|COL13A1_uc021psd.1_Intron|COL13A1_uc010qjf.2_Intron|COL13A1_uc021pse.1_Intron|COL13A1_uc021psf.1_Missense_Mutation_p.P562S|COL13A1_uc021psg.1_Missense_Mutation_p.P540S|COL13A1_uc021psh.1_Missense_Mutation_p.P543S	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	562	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GAAGGGCAATCCAGGAGCAGA	0.507000														23			6		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186673597	186673597	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:186673597G>A	uc002upl.3	+	16	19831	c.19831G>A	c.(19831-19833)Gtt>Att	p.V6611I	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATTAAAATAGTTCCACATGT	0.303000														67			10		0	0	1	0	0
KLRC4	8302	broad.mit.edu	37	12	10560278	10560278	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10560278G>A	uc001qye.3	-	3	633	c.451C>T	c.(451-453)Cga>Tga	p.R151*	KLRK1_uc001qyc.3_5'UTR|KLRK1_uc009zhk.3_5'UTR|KLRK1_uc001qyd.3_5'UTR	NM_013431	NP_038459	O43908	NKG2F_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 4 (KLRC4), mRNA.	151					cellular defense response	integral to membrane	binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						AGAGTTCTTCGAAGCACAGGC	0.363000														215			92		0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114823558	114823558	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:114823558C>T	uc003ibq.1	-	1	2560	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	ARSJ_uc010imu.1_Missense_Mutation_p.E558K|ARSJ_uc010imv.1_Missense_Mutation_p.E386K	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	558						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		ttcttggtttcctcttTATAC	0.448000														25			11		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83195246	83195246	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:83195246C>T	uc001paj.2	-	16	2207	c.1904G>A	c.(1903-1905)aGc>aAc	p.S635N	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Intron|DLG2_uc021qof.1_Missense_Mutation_p.S674N|DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Missense_Mutation_p.S740N|DLG2_uc010rtb.1_Missense_Mutation_p.S602N|DLG2_uc010rsx.1_Intron|DLG2_uc010rsw.1_Intron	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	635						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AAAGATGAAGCTCTTTTTACG	0.413000														97			30		0	0	1	0	0
RAB20	55647	broad.mit.edu	37	13	111176459	111176459	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:111176459C>T	uc001vqy.3	-	1	463	c.258G>A	c.(256-258)caG>caA	p.Q86Q		NM_017817	NP_060287	Q9NX57	RAB20_HUMAN	Homo sapiens RAB20, member RAS oncogene family (RAB20), mRNA.	86					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CCACCAGGCTCTGCCGGTGAT	0.627000														67			15		0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92826581	92826581	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92826581C>T	uc011khy.2	-	7	1266	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	HEPACAM2_uc003uml.3_Missense_Mutation_p.E380K|HEPACAM2_uc010lff.3_Silent_p.Q371Q|HEPACAM2_uc003umm.3_Missense_Mutation_p.E392K	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	392						integral to membrane		p.P415S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTCCTGTATTCTGTTTCTGGC	0.303000														52			22		0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18181530	18181530	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:18181530G>A	uc002gsx.1	-	17	2515	c.2286C>T	c.(2284-2286)ccC>ccT	p.P762P	TOP3A_uc010cpz.1_Silent_p.P214P|TOP3A_uc010vxr.1_Silent_p.P292P|TOP3A_uc002gsw.1_Silent_p.P214P|TOP3A_uc010vxs.1_Silent_p.P660P	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	762					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GGCGGCCAGAGGGCTGGCTAG	0.627000														49			31		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16256942	16256942	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16256942C>T	uc001axk.1	+	10	4411	c.4207C>T	c.(4207-4209)Cga>Tga	p.R1403*	SPEN_uc010obp.1_Nonsense_Mutation_p.R1362*	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1403					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)		TGAAAGTTCTCGATTGTCTTT	0.418000														65			35		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088494	94088494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94088494C>T	uc001ybv.1	+	27	4533	c.4450C>T	c.(4450-4452)Cct>Tct	p.P1484S	UNC79_uc001ybs.1_Missense_Mutation_p.P1462S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1639						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						GCCTCTTCCCCCTCTCAGAAT	0.517000														113			35		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538757	55538757	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55538757G>A	uc003xsd.1	+	3	2463	c.2315G>A	c.(2314-2316)gGa>gAa	p.G772E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	772					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGGTTCAAGGACTTTTAACC	0.294000														46			6		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139277969	139277969	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:139277969G>A	uc003yuy.3	-	3	445	c.274C>T	c.(274-276)Cat>Tat	p.H92Y	FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	92										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)			AAGAGTAAATGAACTCGGAAG	0.473000										HNSCC(54;0.14)				70			28		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42693486	42693486	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42693486C>T	uc010ggo.3	+	5	989	c.949C>T	c.(949-951)Ctc>Ttc	p.L317F	TOX2_uc002xle.4_Missense_Mutation_p.L275F|TOX2_uc010ggp.3_Missense_Mutation_p.L275F|TOX2_uc002xlf.4_Intron|TOX2_uc010zwk.2_Missense_Mutation_p.L195F	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P316P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCGGGCTAGCCTCGTCTCCAA	0.582000														92			37		0	0	1	0	0
PRPF31	26121	broad.mit.edu	37	19	54626875	54626875	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54626875C>T	uc002qdh.2	+	5	859	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	PRPF31_uc010yek.1_Silent_p.L155L|PRPF31_uc021vbi.1_Silent_p.L155L	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	155					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP|nuclear speck	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAATGAGAACCTGCAGCAGAT	0.612000														106			33		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10222305	10222305	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10222305C>T	uc002gmk.1	-	26	3630	c.3540G>A	c.(3538-3540)agG>agA	p.R1180R		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1180					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTCCAGGTCCCTGCGCATTT	0.582000														77			94		0	0	1	0	0
DUPD1	338599	broad.mit.edu	37	10	76797674	76797674	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:76797674C>T	uc001jwq.1	-	2	583	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	Homo sapiens dual specificity phosphatase and pro isomerase domain containing 1 (DUPD1), mRNA.	195	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTGTCCAGCTCCCGGAGCTGC	0.647000														56			36		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25890625	25890625	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:25890625G>A	uc003xes.2	-	5	792	c.527C>T	c.(526-528)cCa>cTa	p.P176L	DOCK5_uc003xek.3_Intron|EBF2_uc003xet.2_Missense_Mutation_p.P176L	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	176					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGGGTCCGATGGAGTCTCATT	0.388000														120			8		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70951717	70951717	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:70951717G>A	uc003pfg.4	-	29	2107	c.1948C>T	c.(1948-1950)Ctc>Ttc	p.L650F	COL9A1_uc003pfe.4_Intron|COL9A1_uc003pff.4_Missense_Mutation_p.L407F	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	650	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AAGCCAGGGAGGCCAGGGCTA	0.532000														9			6		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19339423	19339423	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19339423C>T	uc002nlz.3	+	7	3093	c.2994C>T	c.(2992-2994)acC>acT	p.T998T	NCAN_uc010ecc.1_Silent_p.T562T	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	998					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TGCCAGGGACCCCTATGAATG	0.642000														54			15		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	12989982	12989982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:12989982G>A	uc002wod.1	+	0	356	c.67G>A	c.(67-69)Ggc>Agc	p.G23S	SPTLC3_uc002woc.3_Missense_Mutation_p.G23S	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	23					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	ACAGAGCAATGGCTCACAAAG	0.483000														85			17		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228479639	228479639	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228479639G>A	uc009xez.1	+	38	10424	c.10380G>A	c.(10378-10380)gaG>gaA	p.E3460E	OBSCN_uc001hsn.3_Silent_p.E3460E|OBSCN_uc001hsq.1_Silent_p.E716E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3460	Ig-like 35.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAATGAAGAGGCCGTGGAAG	0.587000														32			14		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39884771	39884771	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:39884771G>A	uc001zkh.3	+	16	2714	c.2535G>A	c.(2533-2535)ctG>ctA	p.L845L	THBS1_uc010bbi.3_Silent_p.L317L	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	845					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCTTTCAGCTGGACTCTGACT	0.433000														13			5		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163302789	163302789	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:163302789G>A	uc002uch.2	-	6	1522	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	KCNH7_uc002uci.3_Silent_p.F424F	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	431					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CATTGAGGAGGAAGGCTGCAG	0.423000														64			24		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38743715	38743715	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38743715C>T	uc021yzh.1	+	12	2059	c.1950C>T	c.(1948-1950)atC>atT	p.I650I	DNAH8_uc003ooe.2_Silent_p.I433I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGACAAAAATCAATGGTTTAG	0.308000														117			46		0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39883338	39883338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39883338C>T	uc002hxm.1	-	9	1502	c.1490G>A	c.(1489-1491)aGg>aAg	p.R497K	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.R445K|HAP1_uc002hxo.1_Missense_Mutation_p.R428K|HAP1_uc002hxp.1_Missense_Mutation_p.R420K	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	497	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGAGATCATCCTCCTTAGAGA	0.572000														7			6		0	0	1	0	0
SPATA8	145946	broad.mit.edu	37	15	97327486	97327486	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:97327486G>A	uc002bue.3	+	1	400	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	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.	65										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)			GCCTGCAAAGGAAGGTAAGTA	0.577000														76			15		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143104721	143104721	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143104721C>T	uc003wcz.3	-	1	220	c.133G>A	c.(133-135)Gat>Aat	p.D45N	LOC285965_uc003wda.3_5'Flank	NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	45						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTTGGGGGATCCAGCAGCCAG	0.562000														368			34		0	0	1	0	0
DTWD2	285605	broad.mit.edu	37	5	118176751	118176751	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:118176751G>A	uc003ksa.3	-	5	792	c.758C>T	c.(757-759)tCc>tTc	p.S253F		NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN	Homo sapiens DTW domain containing 2 (DTWD2), mRNA.	253										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		AAGTTGAAAGGAGCATAAAGC	0.373000														19			9		0	0	1	0	0
FKBP3	2287	broad.mit.edu	37	14	45603624	45603624	+	Silent	SNP	C	T	T	rs28366026		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:45603624C>T	uc010tqf.2	-	0	386	c.36G>A	c.(34-36)gtG>gtA	p.V12V	FANCM_uc001wwc.2_5'Flank|FANCM_uc001wwd.4_5'Flank|FANCM_uc010anf.3_5'Flank	NM_002013	NP_002004	Q00688	FKBP3_HUMAN	Homo sapiens FK506 binding protein 3, 25kDa (FKBP3), mRNA.	12					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						GCAGCTGCTCCACGGTCCACG	0.662000														79			21		0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22006032	22006032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:22006032G>A	uc003xav.3	-	7	1577	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	LGI3_uc010ltu.3_Missense_Mutation_p.R406C	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	430					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		p.R430G(2)		endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CGGCCGGCACGAAAGTGTTTC	0.632000														24			11		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71348651	71348651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:71348651C>T	uc010dfm.3	-	40	5719	c.5719G>A	c.(5719-5721)Ggt>Agt	p.G1907S	SDK2_uc002jjt.4_Missense_Mutation_p.G1047S	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1907	Fibronectin type-III 13.				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						GTGCCGAAACCATAGTCGTTG	0.637000														21			4		0	0	1	0	0
CSF3	1440	broad.mit.edu	37	17	38172548	38172548	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:38172548C>T	uc002htp.3	+	2	381	c.267C>T	c.(265-267)atC>atT	p.I89I	CSF3_uc002hto.3_Silent_p.I86I|CSF3_uc002htq.3_Silent_p.I82I|CSF3_uc021tww.1_Intron|CSF3_uc021twx.1_Intron|CSF3_uc010wep.2_Intron	NM_000759	NP_000750	P09919	CSF3_HUMAN	Homo sapiens colony stimulating factor 3 (granulocyte) (CSF3), transcript variant 1, mRNA.	89					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTCTGGGCATCCCCTGGGCTC	0.627000														5			5		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10448673	10448673	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10448673G>A	uc010coi.3	-	4	623	c.495C>T	c.(493-495)ttC>ttT	p.F165F	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.F165F|MYH2_uc010coj.3_Silent_p.F165F	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	165	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Q164*(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGTCAGCATGAACTGATAGG	0.527000														183			79		0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45016647	45016647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:45016647G>A	uc003tmh.2	-	1	263	c.119C>T	c.(118-120)aCc>aTc	p.T40I	MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	40	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						ACCGATGTAGGTGTAGATGCG	0.617000														47			37		0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17412148	17412148	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:17412148C>T	uc011kye.2	+	6	1303	c.1255C>T	c.(1255-1257)Caa>Taa	p.Q419*	SLC7A2_uc011kyc.2_Nonsense_Mutation_p.Q379*|SLC7A2_uc011kyd.2_Intron	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	379					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	p.T418T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATGTCTAGCTCAAATCAATTC	0.418000														171			59		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24538596	24538596	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24538596G>A	uc001wlj.2	+	39	4259	c.4102G>A	c.(4102-4104)Gag>Aag	p.E1368K	LRRC16B_uc001wlk.2_Missense_Mutation_p.E421K|CPNE6_uc010tnv.2_5'Flank|CPNE6_uc001wlm.3_5'Flank|CPNE6_uc001wll.3_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	1368										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		AGGAACCAGTGAGCCAGGAAC	0.627000														44			29		0	0	1	0	0
MED26	9441	broad.mit.edu	37	19	16686990	16686990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16686990C>T	uc002nen.1	-	2	1912	c.1651G>A	c.(1651-1653)Gat>Aat	p.D551N	MED26_uc002nee.2_Intron	NM_004831	NP_004822	O95402	MED26_HUMAN	Homo sapiens mediator complex subunit 26 (MED26), mRNA.	551					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CTGTCGAGATCGTCCTGTGTG	0.642000														59			24		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114290925	114290925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:114290925C>T	uc003ynu.3	-	2	569	c.410G>A	c.(409-411)gGa>gAa	p.G137E	CSMD3_uc003ynt.3_Missense_Mutation_p.G97E|CSMD3_uc011lhx.2_Missense_Mutation_p.G137E|CSMD3_uc010mcx.1_Missense_Mutation_p.G137E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	137	CUB 1.					integral to membrane|plasma membrane		p.G137*(1)		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						CAGATGGAATCCTGTTAACCT	0.308000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				67			17		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152782813	152782813	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:152782813G>A	uc021zhb.1	-	18	2536	c.2313C>T	c.(2311-2313)caC>caT	p.H771H	SYNE1_uc003qot.4_Silent_p.H778H|SYNE1_uc003qou.4_Silent_p.H771H|SYNE1_uc010kjb.1_Silent_p.H754H|SYNE1_uc003qow.3_Silent_p.H66H|SYNE1_uc003qox.1_Silent_p.H287H|SYNE1_uc003qoz.2_Silent_p.H203H|SYNE1_uc003qoy.2_Silent_p.H338H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	771					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGTAATGAGGTGTGCTGTCT	0.413000										HNSCC(10;0.0054)				61			46		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76744366	76744366	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:76744366G>A	uc003pik.1	-	2	570	c.440C>T	c.(439-441)tCc>tTc	p.S147F		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	147					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GTGCTCCTGGGAATTGCTGAA	0.527000														56			35		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115079143	115079143	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:115079143G>A	uc001eez.3	-	28		c.4500C>T				NM_198459		Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		AGATCTACGTGGATGATGGGC	0.502000														175			18		0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1497080	1497080	+	Missense_Mutation	SNP	G	A	A	rs140032494		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1497080G>A	uc002clv.2	-	23	2368	c.2258C>T	c.(2257-2259)tCg>tTg	p.S753L	CCDC154_uc010uve.2_5'Flank|CLCN7_uc002clu.2_Missense_Mutation_p.S201L|CLCN7_uc002clw.2_Missense_Mutation_p.S729L	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	753	CBS 2.					integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CCGTGGGAGCGACGCCTCCTG	0.716000														10			5		0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406212	55406213	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55406212_55406213CC>TT	uc010rij.2	+	0	379_380	c.379_380CC>TT	c.(379-381)ccc>TTc	p.P127F		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CATTTGCAAGCCCCTGCACTAC	0.421000														76			22		0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51673920	51673920	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:51673920C>T	uc011bdt.2	+	12	2261	c.2136C>T	c.(2134-2136)taC>taT	p.Y712Y	RAD54L2_uc003dbh.3_Silent_p.Y303Y|RAD54L2_uc011bdu.2_Silent_p.Y406Y|RAD54L2_uc003dbj.3_Silent_p.Y38Y	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	712						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)		TGACTAATTACCAGACTGGAG	0.458000														24			8		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20996782	20996782	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20996782C>T	uc010vbe.2	-	47	7282	c.7282G>A	c.(7282-7284)Ggc>Agc	p.G2428S	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2428	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCAGGTGGCCTTTGTCCTGC	0.542000														33			21		0	0	1	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077054	45077054	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:45077054C>T	uc003cok.4	+	2	343	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L		NM_003278	NP_003269	P05452	TETN_HUMAN	Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA.	83	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAATGCTTTCTGGCCTTCAC	0.627000														36			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107066183	107066183	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:107066183G>A	uc021ser.1	-	144		c.6406C>T								Parts of antibodies, mostly variable regions.																		CCACCAAGAAGAGGATGCTCC	0.572000														43			7		0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7311894	7311894	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7311894C>T	uc002ggt.1	+	0	393	c.320C>T	c.(319-321)cCg>cTg	p.P107L		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	107					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)				CCCGCCTGCCCGCAGAACCTG	0.741000														2			3		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14748569	14748569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:14748569G>A	uc003zlm.3	-	31	6442	c.5626C>T	c.(5626-5628)Ctg>Ttg	p.L1876L	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Intron|FREM1_uc003zll.3_Silent_p.L412L	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1876					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GGGGGCAGCAGATGCCAAATG	0.527000														164			51		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457509	110457509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110457509C>T	uc003yne.3	+	37	5515	c.5411C>T	c.(5410-5412)cCt>cTt	p.P1804L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1804	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			CTTGTGACTCCTCTCCCAGTT	0.463000										HNSCC(38;0.096)				81			31		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834206	101834206	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:101834206G>A	uc003knn.3	-	0	515	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L	SLCO6A1_uc003kno.3_Silent_p.L115L|SLCO6A1_uc003knp.3_Silent_p.L115L|SLCO6A1_uc003knq.3_Silent_p.L115L	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	115	Cys-rich.					integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CATATGAGCAGGATGCAGTAG	0.572000														49			21		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138453020	138453020	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:138453020G>A	uc003ihe.4	-	0	610	c.223C>T	c.(223-225)Cct>Tct	p.P75S	PCDH18_uc003ihf.4_Missense_Mutation_p.P68S|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	75	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACAAGTAGAGGAGAATTTCCC	0.418000														133			56		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031330	79031330	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:79031330G>A	uc003kgc.3	+	1	6814	c.6742G>A	c.(6742-6744)Gaa>Aaa	p.E2248K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2248						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACTGCTGATGAACCCAGAGG	0.348000														86			39		0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5687273	5687273	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5687273G>A	uc001mbm.2	-	5	1109	c.806C>T	c.(805-807)cCa>cTa	p.P269L	TRIM6-TRIM34_uc009yer.3_Non-coding_Transcript|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Missense_Mutation_p.P269L|TRIM5_uc001mbp.3_Missense_Mutation_p.P269L	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.	269					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTGATTTTTTGGAAAAGTTTC	0.403000														90			30		0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17791332	17791332	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:17791332G>A	uc003zna.3	+	7	1016	c.728_splice	c.e7+1	p.R243_splice	SH3GL2_uc011lmy.2_Splice_Site_p.R196_splice	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	243	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		CTGGAAGAAAGGTATTCTACA	0.428000														71			5		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48602929	48602929	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48602929C>T	uc003ctz.2	-	115	8442	c.8441_splice	c.e115-1	p.R2814_splice	UCN2_uc003cty.1_5'Flank|UCN2_uc021wxo.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2814	Nonhelical region (NC2).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGAGGGGTCCTGGAGCCAA	0.642000														16			8		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639996	7639996	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7639996G>A	uc001qsz.3	-	7	2137	c.2009C>T	c.(2008-2010)tCa>tTa	p.S670L	CD163_uc001qta.3_Missense_Mutation_p.S670L|CD163_uc009zfw.2_Missense_Mutation_p.S703L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	670	SRCR 6.				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						AGGACATAATGAAGCACCTAG	0.483000														45			25		0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39729862	39729862	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:39729862C>T	uc002xjl.3	+	12	1423	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S	BC035080_uc002xjn.1_Non-coding_Transcript	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	393					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TGCCAAGGTTCCTTCTCCTCC	0.443000			T	NUP98	AML*									72			50		0	0	1	0	0
MKNK2	2872	broad.mit.edu	37	19	2041159	2041160	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:2041159_2041160GG>AA	uc002lus.2	-	11	1234_1235	c.989_990CC>TT	c.(988-990)ccc>cTT	p.P330L	MKNK2_uc021ump.1_5'Flank|MKNK2_uc002luq.1_Missense_Mutation_p.P74L|MKNK2_uc010xgu.1_Missense_Mutation_p.P169L|MKNK2_uc010xgv.1_Missense_Mutation_p.P199L|MKNK2_uc002lur.2_Missense_Mutation_p.P330L|MKNK2_uc002lut.1_Missense_Mutation_p.P74L	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 2 (MKNK2), transcript variant 2, mRNA.	330	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		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)		AGTCCTTGTCGGGGAACTCGTA	0.594000														86			38		0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42145615	42145615	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:42145615G>A	uc003gwn.3	-	2	1464	c.884C>T	c.(883-885)tCc>tTc	p.S295F	BEND4_uc003gwm.3_Missense_Mutation_p.S295F|BEND4_uc011byy.1_Missense_Mutation_p.S295F	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	295										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CGTTGCTGGGGAAGTCCAGCC	0.552000														13			5		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38748773	38748773	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38748773G>A	uc003ciq.3	-	24	4383	c.4383C>T	c.(4381-4383)ccC>ccT	p.P1461P		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1461					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGCTCACCAGGGGCCGTGGGA	0.547000														72			27		0	0	1	0	0
S100A3	6274	broad.mit.edu	37	1	153520175	153520175	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153520175G>A	uc001fca.1	-	2	372	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	S100A4_uc001fby.3_5'Flank|S100A4_uc001fbz.3_5'Flank|AK307246_uc009wog.1_Intron	NM_002960	NP_002951	P33764	S10A3_HUMAN	Homo sapiens S100 calcium binding protein A3 (S100A3), mRNA.	97							calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCAGGGGGGCTCTGAGGGG	0.622000														83			27		0	0	1	0	0
DNAJB6	10049	broad.mit.edu	37	7	157160088	157160088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:157160088C>T	uc003wnk.3	+	4	412	c.257C>T	c.(256-258)cCa>cTa	p.P86L	DNAJB6_uc003wnj.3_Missense_Mutation_p.P86L|DNAJB6_uc003wnl.3_Missense_Mutation_p.P73L|DNAJB6_uc011kvy.2_Missense_Mutation_p.P37L|DNAJB6_uc011kvz.2_Missense_Mutation_p.P86L|DNAJB6_uc010lqt.3_Missense_Mutation_p.P86L	NM_058246	NP_490647	O75190	DNJB6_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 6 (DNAJB6), transcript variant 1, mRNA.	86	Gly/Phe-rich.|Interaction with HSP70.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TTTGACAGTCCATTTGAATTT	0.363000														177			19		0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152818521	152818521	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:152818521G>A	uc004fht.1	+	10	1978	c.1852G>A	c.(1852-1854)Gaa>Aaa	p.E618K	ATP2B3_uc004fhs.1_Missense_Mutation_p.E618K	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	618					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAATGGCGAACTCCGGGG	0.612000														13			23		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144886117	144886117	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:144886117G>A	uc021ouh.1	-	22	3419	c.3117C>T	c.(3115-3117)ttC>ttT	p.F1039F	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_Silent_p.F1039F|PDE4DIP_uc001elx.4_Silent_p.F1105F|PDE4DIP_uc001elv.4_Silent_p.F46F	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1039					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.G1038A(1)		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)		ACACTGAGGAGAATCCTGCTT	0.547000			T	PDGFRB	MPD									109			23		0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903186	4903186	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4903186C>T	uc010qyp.2	+	0	138	c.138C>T	c.(136-138)ttC>ttT	p.F46F		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		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)		TCACTGCATTCCCTGGGCTGG	0.423000														84			37		0	0	1	0	0
STMN4	81551	broad.mit.edu	37	8	27097571	27097571	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:27097571C>T	uc011lak.2	-	5	622	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	STMN4_uc003xfj.3_Missense_Mutation_p.E170K|STMN4_uc011lai.2_Missense_Mutation_p.E170K|STMN4_uc011laj.2_Missense_Mutation_p.E134K|STMN4_uc003xfk.3_Missense_Mutation_p.E143K|STMN4_uc010luo.3_Missense_Mutation_p.E143K	NM_030795	NP_110422	Q9H169	STMN4_HUMAN	Homo sapiens stathmin-like 4 (STMN4), mRNA.	143					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		GCCAGTTTTTCCTTAGCCATC	0.527000														76			28		0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100105173	100105173	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:100105173C>T	uc004egj.3	-	8	1306	c.1100G>A	c.(1099-1101)aGg>aAg	p.R367K	NOX1_uc004egl.4_Missense_Mutation_p.R367K|NOX1_uc010nne.3_Missense_Mutation_p.R330K	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	367	FAD-binding FR-type.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TTCGAAAGCCCTTATGAGATT	0.473000														25			13		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73065742	73065742	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73065742C>T	uc004ebm.1	-	0		c.6847G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GAAAAGGGGCCTTGGTGATCA	0.512000														45			49		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8670542	8670542	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8670542G>A	uc002mkj.1	-	2	328	c.54C>T	c.(52-54)ctC>ctT	p.L18L	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	18					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						CCTCGAACATGAGGCCCAGCC	0.657000														18			10		0	0	1	0	0
ATXN10	25814	broad.mit.edu	37	22	46096167	46096167	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:46096167C>T	uc003bgm.2	+	3	663	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	ATXN10_uc011aqt.2_Missense_Mutation_p.R69C|ATXN10_uc003bgn.2_5'UTR	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	Homo sapiens ataxin 10 (ATXN10), transcript variant 1, mRNA.	133					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CTTAGCTTTTCGCTGTGGCCT	0.313000														32			15		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161214865	161214865	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:161214865C>T	uc011bpb.2	+	0	270	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	90						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TTGAAAACTTCACTCTTGACC	0.473000														155			34		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88423632	88423632	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:88423632G>A	uc002bme.2	-	18	2509	c.2203C>T	c.(2203-2205)Cgc>Tgc	p.R735C	NTRK3_uc002bmh.2_Missense_Mutation_p.R713C|NTRK3_uc002bmf.2_Missense_Mutation_p.R721C|NTRK3_uc021sua.1_Missense_Mutation_p.R713C	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	735	Protein kinase.		R -> F (in a lung large cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions).		transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R721F(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGCATCCAGCGAATGGGGAGC	0.507000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				47			32		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152605214	152605214	+	Missense_Mutation	SNP	C	T	T	rs147615757		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:152605214C>T	uc021zhb.1	-	93	18329	c.18106G>A	c.(18106-18108)Gac>Aac	p.D6036N	SYNE1_uc003qos.4_Missense_Mutation_p.D560N|SYNE1_uc003qot.4_Missense_Mutation_p.D5965N|SYNE1_uc003qou.4_Missense_Mutation_p.D6036N|SYNE1_uc010kiy.1_Missense_Mutation_p.D215N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6036					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.A6035V(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCGCAGGGTCGGCCTCACAA	0.562000										HNSCC(10;0.0054)				30			20		0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115950740	115950740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:115950740G>A	uc004bgs.2	-	12	1358	c.1205C>T	c.(1204-1206)cCt>cTt	p.P402L	FKBP15_uc010muu.1_Missense_Mutation_p.P466L|FKBP15_uc011lxc.1_5'Flank|FKBP15_uc011lxd.1_Missense_Mutation_p.P334L|FKBP15_uc010mut.1_Missense_Mutation_p.P270L|FKBP15_uc004bgt.2_Missense_Mutation_p.P402L	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	402					endocytosis|protein folding	axon|early endosome	actin binding	p.P402L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						AGTCACCACAGGCTGCCCACC	0.567000														77			8		0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78888958	78888958	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:78888958C>T	uc002bec.3	-	5	2007	c.1506G>A	c.(1504-1506)agG>agA	p.R502R	CHRNA3_uc002beb.3_Intron|CHRNA3_uc002bea.3_Non-coding_Transcript|CHRNA3_uc010blg.2_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	502					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGCATCTTCCCTGGCCATCA	0.493000														71			21		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169145710	169145710	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:169145710G>A	uc003maf.3	+	21	2262	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.E220K	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	728					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			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)			CAGCAGAGGGGAGCAATGTGA	0.383000														60			31		0	0	1	0	0
PXK	54899	broad.mit.edu	37	3	58382778	58382778	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58382778C>T	uc003djz.1	+	9	934	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F	PXK_uc003djx.1_Missense_Mutation_p.L279F|PXK_uc003dka.1_Missense_Mutation_p.L279F|PXK_uc003dkb.1_Missense_Mutation_p.L196F|PXK_uc003dkc.1_Missense_Mutation_p.L262F|PXK_uc011bfe.1_Missense_Mutation_p.L246F|PXK_uc010hnj.1_Missense_Mutation_p.L246F|PXK_uc003dkd.1_Missense_Mutation_p.L142F|PXK_uc010hnk.1_Missense_Mutation_p.L53F	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	Homo sapiens PX domain containing serine/threonine kinase (PXK), mRNA.	279	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	ATP binding|actin binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		ACTGAAGTTTCTTCATGACAA	0.398000														119			52		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77799640	77799640	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:77799640G>A	uc021rks.1	-	18	3054	c.2787C>T	c.(2785-2787)taC>taT	p.Y929Y	MYCBP2_uc010aev.3_Silent_p.Y295Y	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	891					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCCTGGAGGGTATGTTGTGA	0.443000														84			38		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087697	9087697	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9087697G>A	uc002mkp.3	-	0	4322	c.4118C>T	c.(4117-4119)tCa>tTa	p.S1373L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1373	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						GAGATTGGGTGAACTTGAGAT	0.468000														72			36		0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703333	55703333	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55703333C>T	uc010ris.2	-	0	544	c.544G>A	c.(544-546)Gac>Aac	p.D182N		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGAGGGAGGTCACAGAAAAAA	0.403000														47			11		0	0	1	0	0
LOC442132	442132	broad.mit.edu	37	5	7303854	7303854	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:7303854C>T	uc003jdy.2	-	4		c.500G>A								Homo sapiens golgin A6 family-like 1 pseudogene (LOC442132), non-coding RNA.																		TTCAAATTTCCTGGCAGCATC	0.498000														13			12		0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3430213	3430213	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3430213G>A	uc002fvr.2	-	11	1834	c.1512C>T	c.(1510-1512)gcC>gcT	p.A504A	TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Silent_p.A488A|TRPV3_uc010vri.1_Silent_p.A459A|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Silent_p.A504A|TRPV3_uc010vrj.1_Silent_p.A488A|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Silent_p.A488A|TRPV3_uc002fvu.3_Silent_p.A504A|TRPV3_uc010vrn.1_Silent_p.A86A	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	504						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GCAGGAAGATGGCAATGCCCT	0.567000														6			9		0	0	1	0	0
ZNF688	146542	broad.mit.edu	37	16	30581396	30581396	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30581396G>A	uc002dyt.2	-	2	1450	c.672C>T	c.(670-672)ttC>ttT	p.F224F	ZNF688_uc002dys.2_Silent_p.F210F|ZNF785_uc002dyu.3_5'Flank	NM_145271	NP_660314	P0C7X2	ZN688_HUMAN	Homo sapiens zinc finger protein 688 (ZNF688), transcript variant 1, mRNA.	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CTTCCACTGCGAACTTCCTCT	0.706000														17			5		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36166573	36166573	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:36166573G>A	uc003gsq.2	-	10	2474	c.2136C>T	c.(2134-2136)tcC>tcT	p.S712S	ARAP2_uc003gsr.1_Silent_p.S712S	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	712	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						AGAGATTGATGGATGCCCAGT	0.428000														95			11		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149829	153149829	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:153149829G>A	uc011dcy.2	+	12	2181	c.2154G>A	c.(2152-2154)agG>agA	p.R718R	GRIA1_uc003lva.4_Silent_p.R708R|GRIA1_uc003luy.4_Silent_p.R708R|GRIA1_uc003luz.4_Silent_p.R613R|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.R628R|GRIA1_uc011dcx.2_Silent_p.R639R|GRIA1_uc011dcz.2_Silent_p.R718R	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	708					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCGAGTGAGGAAATCCAAAG	0.483000														59			22		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236205562	236205563	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:236205562_236205563CC>TT	uc001hxo.3	-	3	884_885	c.782_783GG>AA	c.(781-783)tgg>tAA	p.W261*	NID1_uc009xgd.3_Nonsense_Mutation_p.W261*	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	261	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCTCAAACACCCAGACACCCTG	0.554000														229			70		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3674315	3674315	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3674315G>A	uc002wja.3	-	12	3287	c.3287C>T	c.(3286-3288)aCc>aTc	p.T1096I	SIGLEC1_uc002wiz.4_Missense_Mutation_p.T1096I|SIGLEC1_uc002wjb.1_5'Flank	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1096	Ig-like C2-type 11.				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						CTCCCGCACGGTAGCCCCGGG	0.647000														30			10		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120824973	120824973	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:120824973G>A	uc001ldu.3	-	6	1206	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	EIF3A_uc010qsu.2_Missense_Mutation_p.R320C	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	354					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GTTGCAAGGCGACGCTGTTTT	0.428000														99			30		0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58954710	58954710	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:58954710C>T	uc010trr.2	+	24	3813	c.3569C>T	c.(3568-3570)tCc>tTc	p.S1190F	KIAA0586_uc001xdu.4_Missense_Mutation_p.S1122F|KIAA0586_uc010trs.2_Missense_Mutation_p.S1052F|KIAA0586_uc001xdt.4_Missense_Mutation_p.S1093F|KIAA0586_uc001xdv.4_Missense_Mutation_p.S1061F|KIAA0586_uc010trt.2_Missense_Mutation_p.S997F|KIAA0586_uc010tru.1_Missense_Mutation_p.S997F	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	1061										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCAGATATTTCCATTGATAAA	0.473000														19			11		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149509362	149509363	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149509362_149509363GG>AA	uc010lpk.3	+	68	9751_9752	c.9751_9752GG>AA	c.(9751-9753)gga>AAa	p.G3251K		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3254					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGAGCTGGGGGATGGGGTCCA	0.703000														22			4		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3180142	3180142	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:3180142C>T	uc021xkv.1	+	34	4726	c.4581C>T	c.(4579-4581)atC>atT	p.I1527I		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1527					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTGATGGCATCATGGCCAGTG	0.418000														124			31		0	0	1	0	0
TBC1D21	161514	broad.mit.edu	37	15	74174023	74174023	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74174023C>T	uc002avz.3	+	2	290	c.207C>T	c.(205-207)ttC>ttT	p.F69F	TBC1D21_uc010ulc.2_Silent_p.F33F	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	69	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CCTGGAAATTCCTCACGGGCT	0.597000														48			13		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32955366	32955366	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:32955366G>A	uc001rlj.4	-	10	2385	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F	PKP2_uc001rlk.4_Missense_Mutation_p.S713F|PKP2_uc010skj.2_Missense_Mutation_p.S710F	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	757					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AAGATTCCGGGACAGATTCCT	0.443000														173			80		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995902	140995902	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140995902C>T	uc004fbt.3	+	3	3036	c.2712C>T	c.(2710-2712)ttC>ttT	p.F904F	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_Silent_p.F563F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	904							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)					AGCCCTTGTTCACTTATACAC	0.478000										HNSCC(15;0.026)				77			84		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238303556	238303556	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:238303556C>T	uc002vwl.2	-	2	668	c.383G>A	c.(382-384)aGc>aAc	p.S128N	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Intron|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.S128N	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	128	Nonhelical region.|VWFA 1.			QS -> AK (in Ref. 4; AAB24261).	axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGTGAGGTGGCTTTGCATTAT	0.478000														81			43		0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116837253	116837253	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116837253G>A	uc004bie.4	-	2	587	c.324C>T	c.(322-324)ctC>ctT	p.L108L	AMBP_uc011lxk.2_Silent_p.L49L|AMBP_uc010mvc.1_Non-coding_Transcript	NM_001633	NP_001624	P02760	AMBP_HUMAN	Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	108					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ATTTGTGATAGAGAAACTTCC	0.438000														99			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8987264	8987264	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8987264C>T	uc002mkp.3	-	67	42027	c.41823G>A	c.(41821-41823)atG>atA	p.M13941I	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.M758I|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13966	SEA 13.			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						CGGGTTGGCCCATGTCCGCCA	0.602000														41			9		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50957857	50957857	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50957857C>T	uc009xog.3	-	6	1017	c.983G>A	c.(982-984)aGg>aAg	p.R328K	OGDHL_uc001jie.3_Missense_Mutation_p.R301K|OGDHL_uc010qgt.2_Missense_Mutation_p.R244K|OGDHL_uc010qgu.2_Missense_Mutation_p.R92K|OGDHL_uc009xoh.2_Missense_Mutation_p.R92K	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	301					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.D328D(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CACGTTCAGCCTTCCCCTGGA	0.667000														12			7		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137028	126137028	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:126137028G>A	uc001uhe.1	+	7	1949	c.1941G>A	c.(1939-1941)acG>acA	p.T647T	TMEM132B_uc001uhf.1_Silent_p.T159T	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	647						integral to membrane		p.K646Q(1)		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)		CTGAGAAGACGGTGATTGTCC	0.572000														32			15		0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30889719	30889719	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:30889719G>A	uc003xin.3	-	0	599	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	WRN_uc003xio.4_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.R194C	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	Homo sapiens purine-rich element binding protein G (PURG), transcript variant A, mRNA.	194						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CGTAGGAAGCGACCCCGCTGA	0.488000														83			29		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77300426	77300426	+	Silent	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77300426G>C	uc004aji.3	+	9	1354	c.1305G>C	c.(1303-1305)ggG>ggC	p.G435G	RORB_uc004ajh.3_Silent_p.G424G	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	435	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACTTGCACGGGGAGAAGCTGC	0.478000														125			41		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50208333	50208333	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50208333C>T	uc010eng.3	+	8	1157	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L	CPT1C_uc002ppl.4_Silent_p.L247L|CPT1C_uc002ppi.3_Silent_p.L198L|CPT1C_uc002ppk.3_Silent_p.L270L|CPT1C_uc010enh.3_Silent_p.L281L|CPT1C_uc002ppj.3_Silent_p.L281L|CPT1C_uc010ybc.1_Silent_p.L119L|CPT1C_uc010eni.1_5'Flank	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	281					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TGCCCTCCTCCTGTACCGCCA	0.652000														76			22		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13395998	13395998	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:13395998G>T	uc002mwy.3	-	20	3812	c.3576C>A	c.(3574-3576)gaC>gaA	p.D1192E	CACNA1A_uc010dzc.2_Missense_Mutation_p.D718E|CACNA1A_uc010xnd.2_Missense_Mutation_p.D1195E|CACNA1A_uc021ups.1_Missense_Mutation_p.D1192E|CACNA1A_uc010xne.2_Missense_Mutation_p.D1195E|CACNA1A_uc010dze.2_Missense_Mutation_p.D1192E|CACNA1A_uc021upt.1_Missense_Mutation_p.D1193E	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1193					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTGGCAGTGGGTCTGGGTTGG	0.537000														59			18		3.32936e-07	3.337e-07	1	1	0
FAT4	79633	broad.mit.edu	37	4	126372625	126372625	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126372625C>T	uc003ifj.4	+	8	10454	c.10454C>T	c.(10453-10455)tCa>tTa	p.S3485L	FAT4_uc011cgp.2_Missense_Mutation_p.S1783L|FAT4_uc003ifi.1_Missense_Mutation_p.S963L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3485	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D3484N(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTGTTGATTCAGGGACCCCC	0.458000														146			59		0	0	1	0	0
TMEM183B	653659	broad.mit.edu	37	1	202991991	202991991	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:202991991C>T	uc001gyu.1	+	7	1014	c.954C>T	c.(952-954)atC>atT	p.I318I	TMEM183B_uc001gyv.1_Non-coding_Transcript|TMEM183B_uc001gyw.1_Silent_p.I317I	NM_001079809	NP_001073277	Q1AE95	T183B_HUMAN	Homo sapiens transmembrane protein 183B (TMEM183B), mRNA.	318						integral to membrane								BRCA - Breast invasive adenocarcinoma(75;0.18)			AGTTTACTATCAATGTGAGCA	0.448000														158			59		0	0	1	0	0
TPD52L1	7164	broad.mit.edu	37	6	125574873	125574873	+	Missense_Mutation	SNP	C	T	T	rs34034771		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:125574873C>T	uc003pzu.1	+	4	616	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	TPD52L1_uc003pzv.1_Missense_Mutation_p.R133C|TPD52L1_uc003pzw.1_Intron|TPD52L1_uc003pzx.1_3'UTR|TPD52L1_uc003pzy.1_Missense_Mutation_p.R104C|TPD52L1_uc003pzz.1_Intron	NM_003287	NP_001003395	Q16890	TPD53_HUMAN	Homo sapiens tumor protein D52-like 1 (TPD52L1), transcript variant 1, mRNA.	133					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		TTACTCCATTCGCCATTCCAT	0.299000														66			33		0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13613031	13613031	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:13613031G>A	uc004cvj.3	+	2	551	c.264G>A	c.(262-264)ggG>ggA	p.G88G	EGFL6_uc004cvi.3_Silent_p.G88G|EGFL6_uc011mik.1_5'UTR|RN7SK_uc022btd.1_5'Flank	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	88	EGF-like 1.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GATACACCGGGAAAACCTGCA	0.473000														14			16		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702859	181702859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181702859C>T	uc009wxt.3	+	20	3430	c.3235C>T	c.(3235-3237)Ccc>Tcc	p.P1079S	CACNA1E_uc001gow.3_Missense_Mutation_p.P1079S|CACNA1E_uc009wxs.3_Missense_Mutation_p.P1060S|CACNA1E_uc001gox.1_Missense_Mutation_p.P305S	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1079					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.D1078D(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						CGACGTGGACCCCTTGGTGGA	0.627000														39			10		0	0	1	0	0
TCTN1	79600	broad.mit.edu	37	12	111078277	111078277	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:111078277C>T	uc001trn.4	+	7	1089	c.933C>T	c.(931-933)ctC>ctT	p.L311L	TCTN1_uc010syc.2_Non-coding_Transcript|TCTN1_uc009zvs.3_Silent_p.L311L|TCTN1_uc001trm.3_Silent_p.L251L|TCTN1_uc001trp.4_Silent_p.L297L|TCTN1_uc001trj.2_Silent_p.L255L|TCTN1_uc001trk.4_Non-coding_Transcript|HVCN1_uc001trq.1_Intron	NM_001082538	NP_001076007	Q2MV58	TECT1_HUMAN	Homo sapiens tectonic family member 1 (TCTN1), transcript variant 1, mRNA.	311					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						AGCCGACTCTCGTCAACGCTG	0.507000														52			28		0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114186370	114186370	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:114186370C>T	uc001edk.3	+	10	2153	c.1972C>T	c.(1972-1974)Cct>Tct	p.P658S	MAGI3_uc001edh.3_Missense_Mutation_p.P683S|MAGI3_uc001edi.4_Missense_Mutation_p.P658S|MAGI3_uc010owm.2_Missense_Mutation_p.P683S|MAGI3_uc001edj.3_Missense_Mutation_p.P379S	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	683	PDZ 3.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	p.P658P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTAAGGTCCTCCTTCACCAAC	0.393000														98			36		0	0	1	0	0
LOC255025	255025	broad.mit.edu	37	3	94890827	94890827	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:94890827G>A	uc003drn.3	+	2		c.291G>A								Homo sapiens uncharacterized LOC255025 (LOC255025), non-coding RNA.																		CAACATCAATGGGGGGTGGAA	0.478000														35			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8993436	8993436	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8993436G>A	uc002mkp.3	-	65	41857	c.41653C>T	c.(41653-41655)Ctg>Ttg	p.L13885L	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.L702L|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13888	SEA 12.			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						CTGTGGGTCAGCTGGCTCAGC	0.592000														216			19		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12364652	12364652	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12364652C>T	uc001atv.3	+	25	6447	c.6306C>T	c.(6304-6306)tcC>tcT	p.S2102S	VPS13D_uc001atw.3_Silent_p.S2102S|VPS13D_uc001atx.3_Silent_p.S1290S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2102					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAACCCATTCCCAGGGGCAGT	0.567000														61			22		0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149263071	149263071	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149263071C>T	uc003lrg.4	-	16	2176	c.2056G>A	c.(2056-2058)Gat>Aat	p.D686N	PDE6A_uc021yfs.1_Missense_Mutation_p.D605N	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	686					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTAGACTGATCCACGATCTTT	0.443000														55			5		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40076552	40076552	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:40076552G>A	uc001rmc.3	+	7	993	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	276										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						AAATGGAAAGGAAGTTTCAAA	0.328000														120			37		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167056312	167056312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:167056312G>A	uc010fpl.3	-	26	5145	c.4804C>T	c.(4804-4806)Cgt>Tgt	p.R1602C	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1613						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTGGCAAGACGGATCACTCGG	0.428000														133			47		0	0	1	0	0
FAM89A	375061	broad.mit.edu	37	1	231155655	231155655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:231155655G>A	uc001hui.2	-	1	547	c.509C>T	c.(508-510)cCt>cTt	p.P170L	FAM89A_uc021pkk.1_Non-coding_Transcript	NM_198552	NP_940954	Q96GI7	FA89A_HUMAN	Homo sapiens family with sequence similarity 89, member A (FAM89A), mRNA.	170										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGAGGAGACAGGCAGTGACAA	0.577000														64			6		0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64056769	64056769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64056769C>T	uc010rni.2	+	8	1388	c.1360C>T	c.(1360-1362)Cgt>Tgt	p.R454C	GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_3'UTR|GPR137_uc001nzi.3_3'UTR|GPR137_uc021qkt.1_Missense_Mutation_p.R396C|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.	396						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TCCTGGGGGTCGTGGCTACCC	0.667000														149			64		0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128928849	128928849	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:128928849C>T	uc002tps.3	+	27	3273	c.3095C>T	c.(3094-3096)cCt>cTt	p.P1032L	UGGT1_uc010fme.1_Missense_Mutation_p.P907L|UGGT1_uc002tpr.3_Missense_Mutation_p.P1008L	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1032					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCTGACATGCCTTTAAAAAGG	0.338000														40			13		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38855747	38855747	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38855747C>T	uc002oih.4	+	21	2690	c.2603C>T	c.(2602-2604)cCc>cTc	p.P868L	CATSPERG_uc002oig.4_Missense_Mutation_p.P828L|CATSPERG_uc002oif.4_Missense_Mutation_p.P508L|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	868					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CACCTGGGGCCCCATATGCAA	0.602000														69			29		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100189522	100189522	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100189522G>A	uc011kjz.1	+	3	737	c.669G>A	c.(667-669)aaG>aaA	p.K223K	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Silent_p.K171K|FBXO24_uc003uvm.1_Silent_p.K185K|FBXO24_uc003uvn.1_5'UTR|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Silent_p.K173K	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	185						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGGAGCCAAGGATGTGAGTA	0.552000														73			20		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733505	152733505	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152733505C>T	uc001fal.1	+	1	1499	c.1441C>T	c.(1441-1443)Ctg>Ttg	p.L481L	KPRP_uc021ozf.1_Silent_p.L481L	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	481	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAATTCCCCTGCCGGCGCC	0.662000														103			52		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113833	94113833	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:94113833G>A	uc001pet.2	-	3	926	c.754C>T	c.(754-756)Ctc>Ttc	p.L252F		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	252						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGATGAGGAGGGGCAGGATG	0.567000														39			13		0	0	1	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151205035	151205035	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151205035C>T	uc001exj.3	+	6	947	c.495C>T	c.(493-495)ctC>ctT	p.L165L	PIP5K1A_uc021oyo.1_Silent_p.L153L|PIP5K1A_uc001exi.3_Silent_p.L152L|PIP5K1A_uc010pcu.2_Silent_p.L153L|PIP5K1A_uc001exk.3_Silent_p.L152L|PIP5K1A_uc010pcv.2_5'Flank	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A), transcript variant 1, mRNA.	165	PIPK.				phospholipid biosynthetic process|signal transduction	Golgi stack|endomembrane system|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGTATTCCCTCTGCAGTGAGC	0.428000														49			28		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104174648	104174648	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104174648C>T	uc001kvg.1	-	3	1623	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.E366K	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	366					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	p.L365M(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCAAACACCTCGTCGTCCACA	0.657000														91			36		0	0	1	0	0
PIP	5304	broad.mit.edu	37	7	142836195	142836195	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142836195C>T	uc003wcf.1	+	2	265	c.229C>T	c.(229-231)Cct>Tct	p.P77S		NM_002652	NP_002643	P12273	PIP_HUMAN	Homo sapiens prolactin-induced protein (PIP), mRNA.	77						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		TAGCAGCATCCCTCTACAAGG	0.428000														90			30		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876420	35876420	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35876420C>T	uc003jjs.3	+	7	1301	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	404					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACCAGGACCTCCTGCTTAGCC	0.547000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							34			21		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	666022	666022	+	Silent	SNP	C	T	T	rs150365241		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:666022C>T	uc001qii.1	+	14	2370	c.2370C>T	c.(2368-2370)ttC>ttT	p.F790F	B4GALNT3_uc001qik.1_Silent_p.F339F	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	790						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	p.F790F(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGGTCCACTTCGTCGTGCCTG	0.607000														33			7		0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24583561	24583561	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:24583561C>T	uc002zzn.1	+	11	1958	c.1914C>T	c.(1912-1914)tcC>tcT	p.S638S		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	638	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						ATGCGTCCTCCCTGCTCACCT	0.612000														67			20		0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37879797	37879797	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:37879797C>T	uc010efk.1	+	4	957	c.846C>T	c.(844-846)gcC>gcT	p.A282A	ZNF527_uc002ogf.3_Silent_p.A250A|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGGTGATGCCTTTAGCTGTT	0.383000														134			45		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70672746	70672746	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:70672746G>A	uc003pfc.1	+	10	1127	c.1010G>A	c.(1009-1011)gGa>gAa	p.G337E	COL19A1_uc010kam.2_Missense_Mutation_p.G233E	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	337	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGCAGCAAAGGAGAAACTGGT	0.274000														43			17		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50611658	50611658	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:50611658G>A	uc003tpg.4	-	1	327	c.126C>T	c.(124-126)atC>atT	p.I42I	DDC_uc022ade.1_Silent_p.I42I|DDC_uc003tpf.4_Silent_p.I42I|DDC_uc022adb.1_Silent_p.I42I|DDC_uc022adc.1_Silent_p.I42I|DDC_uc022add.1_Silent_p.I42I|DDC_uc022adf.1_Silent_p.I42I	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	42					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CAGCGGCAGGGATCAGCGGCC	0.562000														118			92		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119064785	119064785	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:119064785G>A	uc003ibx.3	+	5	1888	c.1485G>A	c.(1483-1485)gaG>gaA	p.E495E	NDST3_uc011cgf.1_Silent_p.E414E	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	495	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GTCCTAAAGAGCTGGATAAGA	0.403000														52			28		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21789343	21789343	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:21789343C>T	uc003svc.3	+	53	8773	c.8742C>T	c.(8740-8742)ccC>ccT	p.P2914P		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2914	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAACATGCCCACTGTGTTCC	0.458000									Kartagener syndrome					49			11		0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52965784	52965784	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52965784C>T	uc001sap.1	-	2	739	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	231	Coil 1B.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		ATCTCCACTTCATATCTGCCA	0.537000														104			14		0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294729	124294729	+	Silent	SNP	G	A	A	rs151066825		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124294729G>A	uc010sak.2	-	0	39	c.39C>T	c.(37-39)atC>atT	p.I13I		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		ATCCCACAAGGATAAACTCAG	0.488000														51			13		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94697645	94697645	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94697645G>A	uc001ycs.1	+	4	663	c.509G>A	c.(508-510)cGg>cAg	p.R170Q		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	170						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GAAACCCTACGGCATGAGGTA	0.338000														76			33		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31062105	31062105	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:31062105C>T	uc002yno.1	-	2	951	c.487G>A	c.(487-489)Gat>Aat	p.D163N	GRIK1_uc002ynn.3_Missense_Mutation_p.D163N|GRIK1_uc011acs.2_Missense_Mutation_p.D163N|GRIK1_uc011act.2_Missense_Mutation_p.D107N|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.3_Missense_Mutation_p.D163N	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	163					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	AGGACCAGATCCAGGATCGCC	0.488000														221			29		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175355212	175355212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175355212C>T	uc001gkp.1	-	5	1814	c.1733G>A	c.(1732-1734)cGa>cAa	p.R578Q	TNR_uc009wwu.1_Missense_Mutation_p.R578Q	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	578	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.R578*(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTTGGTCCCTCGGACGGCACT	0.637000														104			40		0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51294740	51294740	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51294740C>T	uc001zyx.2	+	20	3402	c.3295C>T	c.(3295-3297)Ccc>Tcc	p.P1099S	AP4E1_uc021skz.1_Missense_Mutation_p.P1024S|AP4E1_uc010bex.1_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	1099					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CCCATCCATCCCCTGCTTACT	0.413000														155			59		0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160274736	160274736	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:160274736C>T	uc003iqg.4	+	21	4016	c.3706C>T	c.(3706-3708)Cgc>Tgc	p.R1236C		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	1236					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TCAGGGGGATCGCGCGTCACT	0.532000														107			29		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120817749	120817749	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:120817749G>A	uc001ldu.3	-	11	1842	c.1696C>T	c.(1696-1698)Cag>Tag	p.Q566*	EIF3A_uc010qsu.2_Nonsense_Mutation_p.Q532*	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	566					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGGATCCGCTGGTGCTCTTTT	0.433000														20			7		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110864522	110864522	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:110864522G>A	uc003hzy.4	+	2	892	c.440G>A	c.(439-441)gGa>gAa	p.G147E	EGF_uc011cfu.2_Missense_Mutation_p.G147E|EGF_uc011cfv.2_Missense_Mutation_p.G147E	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	147					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GATATGAAAGGAAATAATTCC	0.308000														76			35		0	0	1	0	0
RAD23B	5887	broad.mit.edu	37	9	110081045	110081045	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:110081045C>A	uc004bde.3	+	5	960	c.566C>A	c.(565-567)tCt>tAt	p.S189Y	RAD23B_uc011lwa.2_Missense_Mutation_p.S189Y|RAD23B_uc022blj.1_Missense_Mutation_p.S117Y|RAD23B_uc011lwb.2_Missense_Mutation_p.S168Y	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	189	UBA 1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	XPC complex|cytoplasm|nucleoplasm|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						ACGGGTCAGTCTTACGAGAAT	0.403000								Direct reversal of damage;Nucleotide excision repair (NER)						98			56		1.64573e-32	1.65618e-32	1	1	0
APOB	338	broad.mit.edu	37	2	21231189	21231189	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21231189C>T	uc002red.3	-	25	8679	c.8551G>A	c.(8551-8553)Gag>Aag	p.E2851K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2851					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATTTTCCCTCAATAGCATTT	0.413000														220			58		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111936872	111936872	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:111936872C>T	uc004bdz.1	-	25	2960	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	889						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCATCTTCTCTCTCTCCAGT	0.448000														53			5		0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27683082	27683082	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27683082G>A	uc001bny.1	-	25	3773	c.3524_splice	c.e25+1	p.R1175_splice	MAP3K6_uc009vsw.1_Splice_Site_p.R1167_splice	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	1175					activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGGCTTTACCGATCAGTCTCT	0.642000														24			13		0	0	1	0	0
TNFRSF17	608	broad.mit.edu	37	16	12060155	12060155	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:12060155G>A	uc002dbv.3	+	1	452	c.234G>A	c.(232-234)agG>agA	p.R78R	TNFRSF17_uc010buy.3_Silent_p.R78R|TNFRSF17_uc010buz.3_Intron	NM_001192	NP_001183	Q02223	TNR17_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 17 (TNFRSF17), mRNA.	78					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						TTTTGCTAAGGAAGATAAACT	0.383000			T	IL2	intestinal T-cell lymphoma									92			29		0	0	1	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047149	46047149	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46047149G>A	uc002zfp.4	+	0	110	c.61G>A	c.(61-63)Gac>Aac	p.D21N	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	21						keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCAGGTGGACGACTGCCCAGA	0.687000														75			39		0	0	1	0	0
KLK7	5650	broad.mit.edu	37	19	51483734	51483734	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51483734G>A	uc002puo.3	-	3	333	c.231C>T	c.(229-231)acC>acT	p.T77T	KLK7_uc002pup.3_Silent_p.T77T|KLK7_uc021uyj.1_Silent_p.T70T|KLK7_uc010eok.3_Silent_p.T5T	NM_139277	NP_001193982	P49862	KLK7_HUMAN	Homo sapiens kallikrein-related peptidase 7 (KLK7), transcript variant 2, mRNA.	77	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		CCAGGTGCACGGTGTACTCAC	0.582000														57			9		0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35245491	35245491	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:35245491G>A	uc001wsk.3	-	17	3035	c.2467C>T	c.(2467-2469)Ctc>Ttc	p.L823F	BAZ1A_uc001wsl.3_Missense_Mutation_p.L791F	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	823	Interaction with SMARCA5.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TCAATAAAGAGTCCAGGAATA	0.413000														94			46		0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795593	142795593	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:142795593C>T	uc004fbz.3	-	1	839	c.85G>A	c.(85-87)Gag>Aag	p.E29K		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	29								p.Q28H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCGGTGCCTCCTGCATCTGA	0.423000														20			21		0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269119	30269119	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:30269119C>T	uc022buh.1	+	0	509	c.509C>T	c.(508-510)cCt>cTt	p.P170L	MAGEB1_uc004dcc.3_Missense_Mutation_p.P170L|MAGEB1_uc004dcd.3_Missense_Mutation_p.P170L|MAGEB1_uc004dce.3_Missense_Mutation_p.P170L	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	170	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GAAGACAACCCTAGTGGCCAC	0.493000														8			10		0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125769852	125769852	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:125769852G>A	uc001lhn.3	-	7	2233	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	CHST15_uc001lhm.3_Missense_Mutation_p.P500L	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	500					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CTCACTTAAGGGCCCTAGAAT	0.547000														4			5		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142099651	142099651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142099651G>A	uc003vyz.1	-	1	151	c.151C>T	c.(151-153)Ctt>Ttt	p.L51F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.L51F					SubName: Full=Uncharacterized protein;																		TACCAAAAAAGGGATACATGA	0.517000														44			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074263	9074263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9074263C>T	uc002mkp.3	-	2	13387	c.13183G>A	c.(13183-13185)Gga>Aga	p.G4395R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4397	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						GTTGCAGCTCCAGTAGGACCT	0.463000														101			45		0	0	1	0	0
INTS9	55756	broad.mit.edu	37	8	28695168	28695168	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:28695168G>A	uc003xha.3	-	4	686	c.387C>T	c.(385-387)acC>acT	p.T129T	INTS9_uc011lav.2_Silent_p.T105T|INTS9_uc011law.2_Silent_p.T108T|INTS9_uc011lax.2_Silent_p.T22T|INTS9_uc010lvc.3_Non-coding_Transcript	NM_018250	NP_001166033	Q9NV88	INT9_HUMAN	Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA.	129					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CGATCTGGACGGTGGGTTCCG	0.532000														30			5		0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93629424	93629424	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:93629424G>A	uc004aqz.3	+	6	1063	c.858G>A	c.(856-858)gcG>gcA	p.A286A	SYK_uc004ara.3_Intron|SYK_uc004arb.3_Intron|SYK_uc004arc.3_Silent_p.A286A|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	286	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	p.P285T(1)|p.A286A(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CTTGGTCAGCGGGTGGAATAA	0.443000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									76			25		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703087	4703087	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4703087G>A	uc001lzk.2	-	1	1099	c.855C>T	c.(853-855)gtC>gtT	p.V285V	OR51E2_uc021qcr.1_Silent_p.V285V	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGGATTGATGACAGGAGGCA	0.512000														47			22		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102495961	102495961	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102495961G>A	uc001phc.3	-	0	103	c.90C>T	c.(88-90)tcC>tcT	p.S30S		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	30					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.A29A(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		AGGTCCTGGGGGAGGCTGCAA	0.532000														75			18		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79399106	79399106	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:79399106G>A	uc003hlb.2	+	54	8429	c.7989G>A	c.(7987-7989)gcG>gcA	p.A2663A		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2658	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCACCCAGGCGAAGGTCATTA	0.458000														23			5		0	0	1	0	0
ADRB1	153	broad.mit.edu	37	10	115804214	115804214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115804214G>A	uc001lba.3	+	0	409	c.323G>A	c.(322-324)gGg>gAg	p.G108E		NM_000684	NP_000675	P08588	ADRB1_HUMAN	Homo sapiens adrenergic, beta-1-, receptor (ADRB1), mRNA.	108					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	CTGGTCATGGGGCTGCTGGTG	0.657000														75			38		0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58980191	58980192	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58980191_58980192CC>TT	uc001nnu.4	-	0	303_304	c.147_148GG>AA	c.(145-150)gggggc>ggAAgc	p.G50S		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	50	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TTGTCCCAGCCCCCTCCAGGTA	0.495000														157			71		0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100144721	100144721	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:100144721C>T	uc001kpc.3	-	14	1744	c.1658G>A	c.(1657-1659)gGa>gAa	p.G553E	PYROXD2_uc001kpb.3_Non-coding_Transcript	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	553							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						AGCCCCACTTCCACAGAGATA	0.612000														20			8		0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55652907	55652907	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55652907G>A	uc010rip.2	+	1	95	c.3G>A	c.(1-3)atG>atA	p.M1I	TRIM51_uc010riq.2_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	1						intracellular	zinc ion binding										TCAGAAACATGAATTCTGGAA	0.443000														170			50		0	0	1	0	0
FLJ31813	326332	broad.mit.edu	37	10	51818892	51818892	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:51818892G>A	uc001jiz.1	-	2		c.1539C>T								Homo sapiens FAM21B pseudogene (FLJ31813), non-coding RNA.																		GGGGTGTCGAGAAAAAGtcgt	0.502000														21			11		0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25279520	25279520	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:25279520C>T	uc001isg.1	-	3	631	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	ENKUR_uc001ish.1_Missense_Mutation_p.E94K	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	Homo sapiens enkurin, TRPC channel interacting protein (ENKUR), mRNA.	156						cilium|flagellum	SH3 domain binding|calmodulin binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CATATGTATTCAGGTGTGACA	0.348000														55			6		0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24689314	24689314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:24689314C>T	uc003swx.3	+	4	653	c.354C>T	c.(352-354)atC>atT	p.I118I	MPP6_uc003swy.3_Silent_p.I118I	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	118					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ATTCTTCTATCAATAATCAGT	0.378000														83			29		0	0	1	0	0
MYBPHL	343263	broad.mit.edu	37	1	109840830	109840831	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:109840830_109840831CC>GT	uc001dxk.1	-	1	244_245	c.194_195GG>AC	c.(193-195)cgg>cAC	p.R65H	MYBPHL_uc010ovh.1_Missense_Mutation_p.R65H|MYBPHL_uc001dxl.3_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	Homo sapiens myosin binding protein H-like (MYBPHL), mRNA.	65	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		CCCCAACCTTCCGGATGTAGGT	0.520000														126			24		0	0	1	0	0
ANXA2	302	broad.mit.edu	37	9	33624926	33624926	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:33624926G>A	uc010mjx.3	+	0	704	c.655G>A	c.(655-657)Gag>Aag	p.E219K	DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank|DJ439530_uc022bfr.1_5'Flank	NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	219					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	CATCATGACCGAGCGGAGCGT	0.468000														67			15		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120138561	120138561	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:120138561G>A	uc001txj.2	-	43	5668	c.5612C>T	c.(5611-5613)cCt>cTt	p.P1871L	CIT_uc001txh.2_Missense_Mutation_p.P1348L|CIT_uc001txi.2_Missense_Mutation_p.P1829L	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1829	CNH.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AAAGGCCAAAGGTAAGCGACT	0.547000														88			10		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63316460	63316460	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:63316460G>A	uc001xfx.3	-	7	1531	c.1480C>T	c.(1480-1482)Ctc>Ttc	p.L494F	KCNH5_uc001xfy.3_Missense_Mutation_p.L494F|KCNH5_uc001xfz.1_Missense_Mutation_p.L436F	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	494					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACCTGATAGAGTTTTAGGAAG	0.393000														105			42		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6305701	6305701	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:6305701C>T	uc003mwv.3	-	2	325	c.202G>A	c.(202-204)Gac>Aac	p.D68N	F13A1_uc011dib.2_Intron	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	68					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.T67N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCATACTTGTCAGTGTGGTGG	0.453000														62			14		0	0	1	0	0
SLC25A42	284439	broad.mit.edu	37	19	19206957	19206957	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19206957C>T	uc002nlf.2	+	1	180	c.24C>T	c.(22-24)ggC>ggT	p.G8G	SLC25A42_uc010xqn.1_Silent_p.G60G	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.	8					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TGAAGGAAGGCCCGGTGCGAT	0.612000														27			10		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128661	126128661	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:126128661G>A	uc001uhe.1	+	5	1470	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	TMEM132B_uc001uhf.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	488						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)		GAATGGGAAGGAAATGAAGAG	0.483000														62			22		0	0	1	0	0
TBCA	6902	broad.mit.edu	37	5	76989169	76989169	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:76989169G>A	uc003kfh.1	-	2	272	c.168C>T	c.(166-168)atC>atT	p.I56I	TBCA_uc003kfi.1_Silent_p.I56I	NM_004607	NP_004598	O75347	TBCA_HUMAN	Homo sapiens tubulin folding cofactor A (TBCA), mRNA.	56					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		ATTCTTGTAGGATCTCTGCCT	0.423000														47			6		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18322637	18322637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18322637C>T	uc010xqc.2	-	13	2203	c.1723G>A	c.(1723-1725)Gag>Aag	p.E575K	PDE4C_uc002nik.4_Missense_Mutation_p.E575K|PDE4C_uc002nil.4_Missense_Mutation_p.E575K|PDE4C_uc002nig.4_Missense_Mutation_p.E290K|PDE4C_uc002nih.4_Missense_Mutation_p.E345K|PDE4C_uc010ebk.3_Missense_Mutation_p.E469K|PDE4C_uc002nii.4_Missense_Mutation_p.E543K|PDE4C_uc002nif.4_Missense_Mutation_p.E344K|PDE4C_uc010ebl.3_Missense_Mutation_p.E289K	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	575					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GACTCACGCTCGCGGTCTCCC	0.627000														74			37		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241991199	241991199	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241991199G>A	uc002wah.1	+	12	1774	c.1774G>A	c.(1774-1776)Ggg>Agg	p.G592R		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	592	EGF-like 8.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CTGCCGGAACGGGGGCACGTG	0.697000														5			3		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833228	24833228	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:24833228G>A	uc001iru.4	+	18	5432	c.5029G>A	c.(5029-5031)Gaa>Aaa	p.E1677K	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.E1360K|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.E513K	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1677					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TAAACAGCTCGAAAATACAAT	0.433000														60			24		0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81585035	81585035	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:81585035C>T	uc021ssh.1	+	10	1660	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Missense_Mutation_p.S520F|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.S562F|IL16_uc021ssg.1_Missense_Mutation_p.S520F|IL16_uc002bgg.3_Missense_Mutation_p.S520F|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.3_Missense_Mutation_p.S14F	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	520					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ATGTCTGGGTCCCCAGGGGGA	0.612000														69			9		0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189830	124189830	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124189830C>T	uc010sah.2	-	0	264	c.264G>A	c.(262-264)gaG>gaA	p.E88E		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		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;0.0525)		TAATGTTCTCCTCTGGAACAA	0.388000														49			21		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72233974	72233974	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:72233974G>A	uc003xyu.3	-	5	1053	c.413C>T	c.(412-414)tCa>tTa	p.S138L	EYA1_uc003xyt.4_Missense_Mutation_p.S105L|EYA1_uc003xyr.4_Missense_Mutation_p.S138L|EYA1_uc010lzf.3_Missense_Mutation_p.S65L|EYA1_uc003xys.4_Missense_Mutation_p.S138L|EYA1_uc011lfe.2_Missense_Mutation_p.S137L|EYA1_uc003xyv.3_Missense_Mutation_p.S21L	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	138					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTCACCATATGAGGAAATGCC	0.483000														35			12		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346988	89346988	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89346988G>A	uc002fmx.1	-	8	6423	c.5962C>T	c.(5962-5964)Ccc>Tcc	p.P1988S	ANKRD11_uc002fmy.1_Missense_Mutation_p.P1988S|ANKRD11_uc002fnc.1_Missense_Mutation_p.P1988S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P1945S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1988	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGGGACTCGGGGAATCTCTGT	0.692000														57			5		0	0	1	0	0
FOXA3	3171	broad.mit.edu	37	19	46375487	46375487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46375487G>A	uc002pdr.3	+	1	421	c.224G>A	c.(223-225)gGg>gAg	p.G75E		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	75					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GCCCCCCTGGGGCCCACTTTC	0.711000														42			11		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138378212	138378212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:138378212C>T	uc002tva.1	+	18	3625	c.3625C>T	c.(3625-3627)Ccc>Tcc	p.P1209S	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.R1209S(1)		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)		AATGAGCATTCCCTGCTTGGT	0.468000														135			70		0	0	1	0	0
DRAM1	55332	broad.mit.edu	37	12	102302023	102302023	+	Silent	SNP	C	T	T	rs61748065		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:102302023C>T	uc001tix.3	+	3	865	c.402C>T	c.(400-402)gtC>gtT	p.V134V	DRAM1_uc010svv.2_Intron	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN	Homo sapiens DNA-damage regulated autophagy modulator 1 (DRAM1), mRNA.	134					apoptosis|autophagy	integral to membrane|lysosomal membrane		p.V28V(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						TCTGTGGTGTCGTGTACACGC	0.498000														120			17		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64418966	64418966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64418966C>T	uc021qkw.1	-	13	3141	c.2679G>A	c.(2677-2679)atG>atA	p.M893I	NRXN2_uc021qkx.1_Missense_Mutation_p.M853I|NRXN2_uc001oas.3_Missense_Mutation_p.M853I|NRXN2_uc001oaq.3_Missense_Mutation_p.M560I	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	893	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGCACTGGTCCATGTAGGGCT	0.582000											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			12		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18705913	18705913	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:18705913C>T	uc003sui.3	+	10	1586	c.1545C>T	c.(1543-1545)gaC>gaT	p.D515D	HDAC9_uc003sue.3_Silent_p.D512D|HDAC9_uc011jyd.2_Silent_p.D512D|HDAC9_uc003suh.3_Silent_p.D512D|HDAC9_uc003suj.3_Silent_p.D471D|HDAC9_uc011jya.2_Silent_p.D510D|HDAC9_uc003sua.1_Silent_p.D490D|HDAC9_uc003sud.2_Silent_p.D512D|HDAC9_uc011jyc.2_Silent_p.D471D|HDAC9_uc011jyb.2_Silent_p.D468D|HDAC9_uc003suf.2_Silent_p.D543D|HDAC9_uc010kud.2_Silent_p.D515D|HDAC9_uc011jye.2_Silent_p.D484D|HDAC9_uc011jyf.2_Silent_p.D435D|HDAC9_uc010kue.1_Intron	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	512					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTCAGGGGGACCAGGCGATGC	0.537000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		150			39		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247768993	247768993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247768993C>T	uc010pyz.2	+	0	106	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTTCTTCTACCTCCTGACCCT	0.443000														176			68		0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1961051	1961051	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1961051G>A	uc001aip.2	+	7	1004	c.909G>A	c.(907-909)cgG>cgA	p.R303R		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	303						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCCTGCCACGGGCATCAGCCA	0.607000														39			9		0	0	1	0	0
HMG20A	10363	broad.mit.edu	37	15	77756657	77756657	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:77756657C>T	uc002bcr.3	+	3	366	c.165C>T	c.(163-165)ctC>ctT	p.L55L	HMG20A_uc002bcq.1_Silent_p.L55L|HMG20A_uc002bcs.3_Silent_p.L55L	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	Homo sapiens high mobility group 20A (HMG20A), mRNA.	55					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TGGAGGATCTCTCTCAAGGTC	0.448000														86			29		0	0	1	0	0
SERINC3	10955	broad.mit.edu	37	20	43142617	43142617	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43142617G>A	uc002xme.3	-	1	238	c.104C>T	c.(103-105)tCc>tTc	p.S35F	SERINC3_uc002xmf.1_Missense_Mutation_p.S35F|SERINC3_uc010ggs.1_Missense_Mutation_p.S28F|SERINC3_uc010zwp.1_5'UTR	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Homo sapiens serine incorporator 3 (SERINC3), transcript variant 2, mRNA.	35						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			AGTCACCGTGGAATTCTTACT	0.478000														91			34		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200974	132200974	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:132200974G>A	uc002tst.2	-	0	1494	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		GATGGGCTTGGAGCTCATGCG	0.612000														20			9		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43749275	43749275	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43749275G>A	uc001zrs.3	-	11	1664	c.1516C>T	c.(1516-1518)Cta>Tta	p.L506L	TP53BP1_uc010udp.2_Silent_p.L506L|TP53BP1_uc001zrq.4_Silent_p.L511L|TP53BP1_uc001zrr.4_Silent_p.L511L|TP53BP1_uc010udq.1_Silent_p.L511L	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	506					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTCAAAGATAGCCCAAGATCC	0.403000								Other conserved DNA damage response genes						70			25		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107407872	107407872	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:107407872C>T	uc004enw.4	-	39	4133	c.4030G>A	c.(4030-4032)Gac>Aac	p.D1344N	COL4A6_uc004env.4_Missense_Mutation_p.D1343N|COL4A6_uc011msn.2_Missense_Mutation_p.D1319N|COL4A6_uc010npk.3_Intron	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1344	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						AATCCTGGGTCTCCAGGTGGC	0.597000									Alport syndrome with Diffuse Leiomyomatosis					43			62		0	0	1	0	0
C1orf114	57821	broad.mit.edu	37	1	169394126	169394126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169394126C>T	uc001gga.1	-	1	208	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	C1orf114_uc001gfz.1_Missense_Mutation_p.E14K|C1orf114_uc009wvq.1_Missense_Mutation_p.E14K|C1orf114_uc001ggb.3_Missense_Mutation_p.E14K|C1orf114_uc001ggc.1_Missense_Mutation_p.E14K	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	14										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TCTTCGTATTCTTCACTTTTC	0.308000														62			25		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118629401	118629401	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:118629401G>A	uc001ehk.2	-	11	1572	c.1504C>T	c.(1504-1506)Cat>Tat	p.H502Y		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	502						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AATATGTCATGAAGATTCTAT	0.388000														88			35		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30976046	30976046	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:30976046G>A	uc021vfn.1	-	8	992	c.960C>T	c.(958-960)ttC>ttT	p.F320F	CAPN13_uc021vfm.1_Silent_p.F320F|CAPN13_uc002rnp.1_Silent_p.F320F	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	320	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ATTTCTGTTGGAAATCTTGAC	0.448000														97			30		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159784074	159784074	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159784074G>A	uc001fud.4	+	7	1181	c.1139G>A	c.(1138-1140)aGg>aAg	p.R380K	FCRL6_uc001fuc.2_Missense_Mutation_p.R387K|FCRL6_uc009wsz.1_Missense_Mutation_p.R285K|FCRL6_uc009wta.3_Missense_Mutation_p.R380K	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	380						integral to membrane		p.R380R(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					ACCTCAAAGAGGAGTGAAGGT	0.438000														45			23		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32811801	32811801	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:32811801C>T	uc001utx.3	+	43	6592	c.6096C>T	c.(6094-6096)tcC>tcT	p.S2032S	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2032					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGGACCCATCCCACATAAACC	0.498000														27			7		0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43625382	43625382	+	Missense_Mutation	SNP	G	A	A	rs143826416	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:43625382G>A	uc011lrb.2	-	3	3334	c.3305C>T	c.(3304-3306)cCt>cTt	p.P1102L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	1102						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						CTTGTGAATAGGGGGAAACAT	0.483000														102			8		0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31656616	31656616	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31656616G>A	uc002wym.1	+	9	986	c.986G>A	c.(985-987)gGg>gAg	p.G329E		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	329					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										CAGGCCCTGGGGAAGCTGCCC	0.582000														47			15		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626122	142626122	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142626122G>A	uc003wby.1	-	4	845	c.581C>T	c.(580-582)tCc>tTc	p.S194F	TRPV5_uc003wbz.3_Missense_Mutation_p.S194F	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	194					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTTACCCAGGGAGTCCTGGGC	0.612000														30			14		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11078587	11078587	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:11078587C>T	uc010hdq.3	+	15	2146	c.1735C>T	c.(1735-1737)Cgc>Tgc	p.R579C		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	579					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	AGACATCGTTCGCCCAGAGAA	0.637000														72			29		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94502778	94502778	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94502778G>A	uc001dqh.3	-	24	3840	c.3736C>T	c.(3736-3738)Ctt>Ttt	p.L1246F		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1246					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)		TCTCTGAAAAGGCTGGCATAT	0.483000														110			16		0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10479767	10479767	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:10479767C>T	uc001arc.3	+	12	1503	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G	PGD_uc010oak.2_Silent_p.G449G	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	471					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		ACTGGACAGGCCATGGTGGCA	0.547000														117			16		0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105609479	105609479	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105609479G>A	uc001yqg.3	-	25	3674	c.3270C>T	c.(3268-3270)gcC>gcT	p.A1090A	JAG2_uc001yqf.3_Silent_p.A494A|JAG2_uc001yqh.3_Silent_p.A1052A	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	1090					Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCACGCTGAAGGCACCACACA	0.692000														37			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064667	9064667	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9064667G>A	uc002mkp.3	-	2	22983	c.22779C>T	c.(22777-22779)tcC>tcT	p.S7593S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7595	Ser-rich.|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						GTGACATTGTGGACTGCTCAG	0.488000														80			35		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104512146	104512146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:104512146G>A	uc004elz.1	+	4	1375	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	207	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						AGTTCAAGAAGAAGATGGAGG	0.333000														26			20		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786416	121786416	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:121786416G>A	uc003ksw.1	+	9	2080	c.1874G>A	c.(1873-1875)gGa>gAa	p.G625E	SNCAIP_uc011cwl.1_Missense_Mutation_p.G183E|SNCAIP_uc003ksy.1_Missense_Mutation_p.G259E|SNCAIP_uc003ksx.1_Missense_Mutation_p.G672E|SNCAIP_uc003ksz.1_Missense_Mutation_p.G259E|SNCAIP_uc010jcu.2_Missense_Mutation_p.G221E|SNCAIP_uc011cwm.1_Missense_Mutation_p.G259E|SNCAIP_uc003kta.1_Missense_Mutation_p.G257E|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.G319E|SNCAIP_uc010jcx.1_Missense_Mutation_p.G565E|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.G141E	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	625					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAGTTATTGGGAAAGGAAATC	0.458000														59			23		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48598515	48598515	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48598515C>T	uc010wmr.2	+	7	1252	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	327					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CACCTGGGATCGGAGTCTGTT	0.567000														20			10		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679883	100679883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100679883C>T	uc003uxp.1	+	2	5239	c.5186C>T	c.(5185-5187)tCa>tTa	p.S1729L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1729	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCCGTTCATCTCCTACA	0.507000														451			159		0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179597799	179597800	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:179597799_179597800GG>AA	uc003fki.1	-	4	552_553	c.422_423CC>TT	c.(421-423)gcc>gTT	p.A141V	PEX5L_uc011bqd.1_Missense_Mutation_p.A98V|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Intron|PEX5L_uc003fkj.1_Missense_Mutation_p.A106V|PEX5L_uc010hxd.1_Missense_Mutation_p.A139V|PEX5L_uc011bqg.1_Missense_Mutation_p.A117V|PEX5L_uc011bqh.1_Missense_Mutation_p.A82V	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	141					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAGATCCATCGGCCTTTTTCTT	0.520000														74			19		0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45923603	45923603	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:45923603C>T	uc001nbr.3	+	3	920	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	199	JNK-binding domain (JBD).				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		ATCCTCACCCCTGAAGACAGG	0.532000														100			74		0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101608912	101608912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:101608912G>A	uc003yjr.3	-	9	1084	c.933C>T	c.(931-933)atC>atT	p.I311I	SNX31_uc011lha.2_Silent_p.I106I|SNX31_uc011lhb.2_Silent_p.I212I	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	311					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TCTGGAAAACGATGTCCTGGG	0.507000														79			21		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621418	65621418	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65621418G>A	uc002aos.2	-	13	2526	c.2274C>T	c.(2272-2274)ggC>ggT	p.G758G	IGDCC3_uc002aor.1_Silent_p.G44G	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	758										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCCATCAGGCCGCACCCCT	0.706000														3			11		0	0	1	0	0
ASL	435	broad.mit.edu	37	7	65557757	65557757	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:65557757C>T	uc003tup.3	+	15	1488	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	ASL_uc003tuo.3_Missense_Mutation_p.P418L|ASL_uc003tur.3_Missense_Mutation_p.P392L|ASL_uc003tuq.3_Missense_Mutation_p.P398L	NM_001024943	NP_001020114	P04424	ARLY_HUMAN	Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA.	418					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CTCCCCAGCCCCCTGTTCTCG	0.687000														129			42		0	0	1	0	0
IFLTD1	160492	broad.mit.edu	37	12	25702421	25702421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:25702421G>A	uc010sji.1	-	2	394	c.149C>T	c.(148-150)tCa>tTa	p.S50L	IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc001rgs.2_Missense_Mutation_p.S29L|IFLTD1_uc010sjj.2_Intron|IFLTD1_uc009zjc.2_Missense_Mutation_p.S50L	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.	29						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TGTGGCAACTGAACCCAACAT	0.333000														94			25		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147203	26147203	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:26147203C>T	uc002dof.3	+	1	1397	c.1005C>T	c.(1003-1005)atC>atT	p.I335I		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	335					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAATAGGGATCTATGCGCTGC	0.552000														166			80		0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661107	4661107	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4661107C>T	uc010qyk.2	+	0	163	c.87C>T	c.(85-87)atC>atT	p.I29I		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTGGGTATCCCTGGCCTGG	0.507000														95			38		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94740655	94740655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94740655G>A	uc003unp.3	+	2	1762	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	PPP1R9A_uc010lfj.3_Missense_Mutation_p.E494K|PPP1R9A_uc011kif.2_Missense_Mutation_p.E494K|PPP1R9A_uc003unq.3_Missense_Mutation_p.E494K|PPP1R9A_uc011kig.2_Missense_Mutation_p.E494K	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	494	Interacts with protein phosphatase 1 (By similarity).					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)			GTATGAACTTGAAAAACGTGT	0.403000										HNSCC(28;0.073)				45			18		0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95423541	95423541	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:95423541G>A	uc003ygk.3	-	3	438	c.307C>T	c.(307-309)Cat>Tat	p.H103Y	RAD54B_uc010may.2_5'UTR|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	p.H103D(2)|p.V102A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GGAGCCGAATGAACTACAATT	0.313000								Direct reversal of damage;Homologous recombination						39			26		0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42853634	42853634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:42853634C>T	uc010skv.2	-	7	2760	c.2473G>A	c.(2473-2475)Ggc>Agc	p.G825S	PRICKLE1_uc001rnl.3_Missense_Mutation_p.G825S|PRICKLE1_uc010skw.2_Missense_Mutation_p.G825S|PRICKLE1_uc001rnm.3_Missense_Mutation_p.G825S|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	825					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CAATTTTTGCCCTTGTGTCCC	0.403000														192			49		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576383	33576383	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:33576383G>A	uc003jia.1	-	18	3911	c.3748C>T	c.(3748-3750)Cct>Tct	p.P1250S	ADAMTS12_uc010iuq.1_Missense_Mutation_p.P1165S	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1250	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L1249L(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCTCCCAGAGGGAGCAGAGTG	0.522000										HNSCC(64;0.19)				144			48		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17682618	17682618	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17682618G>A	uc001baj.2	+	11	1479	c.1451G>A	c.(1450-1452)aGg>aAg	p.R484K		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	484					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GCACCCGACAGGAAGGTACAG	0.592000														46			14		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587813	247587813	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247587813G>A	uc001icr.3	+	4	1206	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E	NLRP3_uc001ics.3_Silent_p.E356E|NLRP3_uc001icu.3_Silent_p.E356E|NLRP3_uc001icw.3_Silent_p.E356E|NLRP3_uc001icv.3_Silent_p.E356E|NLRP3_uc010pyw.2_Silent_p.E354E|NLRP3_uc001ict.1_Silent_p.E354E	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	356	NACHT.		E -> D (in CINCA).		detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGGCCCTGGAGAAACTGCAGC	0.552000														76			23		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238053390	238053390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:238053390C>T	uc001hym.3	-	1	549	c.262G>A	c.(262-264)Gag>Aag	p.E88K	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	88					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)			TAGGTTGCCTCCAACACCACG	0.582000														88			38		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044681	56044681	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:56044681C>T	uc003pcs.3	-	2	567	c.335G>A	c.(334-336)gGa>gAa	p.G112E	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.G112E|COL21A1_uc003pcu.1_Missense_Mutation_p.G112E	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	112	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G112R(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTGTGTTTCCTCCTAAGTA	0.468000														34			17		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187003942	187003942	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187003942C>T	uc003iyq.3	+	3	1203	c.1102C>T	c.(1102-1104)Cca>Tca	p.P368S	TLR3_uc011ckz.2_Missense_Mutation_p.P91S|TLR3_uc003iyr.3_Missense_Mutation_p.P91S	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	368					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TAATGATATTCCAGGCATAAA	0.343000														36			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203019	140203019	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140203019C>T	uc003lhl.2	+	0	1659	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F	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_uc003lhk.1_Silent_p.F553F|PCDHAC2_uc003lhj.1_Silent_p.F553F	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	568	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTGTTCGTGCTGGACG	0.706000														77			31		0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132298345	132298345	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:132298345G>A	uc003eov.4	-	13	2059	c.1679C>T	c.(1678-1680)tCt>tTt	p.S560F	NPHP3_uc011blr.1_Missense_Mutation_p.S171F	NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTGGAGAGAGAAGTATTTTG	0.373000														79			17		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111090583	111090583	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:111090583T>G	uc004epl.1	-	5	2378	c.1459A>C	c.(1459-1461)Att>Ctt	p.I487L	TRPC5_uc004epm.1_Missense_Mutation_p.I487L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	487					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAACTTAAAATGTTGGATATT	0.463000														28			20		0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208133	106208133	+	Splice_Site	SNP	C	T	T	rs1803800		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106208133C>T	uc001yse.3	-	5	715	c.269_splice	c.e5-1	p.G90_splice	abParts_uc021ser.1_Splice_Site|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		CGGGGCTGCCCTGTAGGGACA	0.642000														178			59		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698997	17698997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:17698997G>A	uc002rcl.1	-	0	710	c.686C>T	c.(685-687)tCa>tTa	p.S229L	RAD51AP2_uc010exn.1_Missense_Mutation_p.S220L	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	229										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TAGTACAGATGATGAAATGTT	0.338000														69			17		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94888394	94888394	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:94888394G>A	uc002btj.3	+	7	1070	c.1005_splice	c.e7+1	p.K335_splice	MCTP2_uc010urg.1_Splice_Site_p.K335_splice|MCTP2_uc002bti.2_Splice_Site_p.K335_splice|MCTP2_uc010boj.3_Splice_Site_p.K64_splice|MCTP2_uc010bok.3_Splice_Site_p.K335_splice	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	335					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGCCAGCAAGGTAAATATACT	0.338000														55			8		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220348866	220348866	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220348866G>A	uc010fwg.3	+	29	6681	c.6681G>A	c.(6679-6681)aaG>aaA	p.K2227K		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2227	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GAGCCTCCAAGCCTGCACCAC	0.667000														54			13		0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84780088	84780088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:84780088C>T	uc010fgb.3	+	9	1669	c.1532C>T	c.(1531-1533)cCc>cTc	p.P511L	DNAH6_uc002soo.3_Missense_Mutation_p.P90L|DNAH6_uc002sop.3_Missense_Mutation_p.P90L	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	511	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TCTCTCATCCCCATGTTTCTC	0.398000														121			33		0	0	1	0	0
TRIM4	89122	broad.mit.edu	37	7	99489896	99489896	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99489896C>T	uc003usd.3	-	6	1592	c.1393G>A	c.(1393-1395)Gga>Aga	p.G465R	TRIM4_uc003use.3_Missense_Mutation_p.G439R|TRIM4_uc011kjc.2_Missense_Mutation_p.G295R	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	465	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				AGGTGCACTCCGTCCACAGCG	0.537000														126			60		0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77702315	77702316	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:77702315_77702316GG>AA	uc001oys.3	-	1	112_113	c.84_85CC>TT	c.(82-87)ctccga>ctTTga	p.R29*	INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Nonsense_Mutation_p.R29*|INTS4_uc001oyv.1_Non-coding_Transcript	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	29					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)			TTTGTTAGTCGGAGTTTCTTAG	0.426000														97			44		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51923199	51923199	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:51923199C>T	uc003pah.1	-	15	1710	c.1434G>A	c.(1432-1434)ctG>ctA	p.L478L	PKHD1_uc003pai.3_Silent_p.L478L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	478					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CATCAGGATTCAGCCAGGTGT	0.552000														101			40		0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	87917351	87917351	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:87917351G>A	uc003ydy.2	+	2	249	c.201G>A	c.(199-201)atG>atA	p.M67I		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	67										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						ATACATTTATGAAGCAATATC	0.358000														24			8		0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869802	52869802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52869802C>T	uc002pyx.4	+	5	1577	c.1171C>T	c.(1171-1173)Ctt>Ttt	p.L391F	ZNF610_uc002pyy.4_Missense_Mutation_p.L391F|ZNF610_uc002pyz.4_Missense_Mutation_p.L348F|ZNF610_uc002pza.3_Missense_Mutation_p.L391F	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H390N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TATGGCCCATCTTCTAATCCA	0.413000														71			21		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21122984	21122984	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21122984G>A	uc010vbe.2	-	13	2062	c.2062C>T	c.(2062-2064)Caa>Taa	p.Q688*	DNAH3_uc002die.2_Nonsense_Mutation_p.Q628*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	688	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTTGGAATTGAATCAGATGG	0.433000														95			27		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101565044	101565044	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:101565044G>A	uc002bwr.3	+	15	2423	c.2104G>A	c.(2104-2106)Gga>Aga	p.G702R	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	702	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGACATCGGGGGACCGGCCAG	0.582000														213			38		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56485099	56485099	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56485099G>A	uc002qmh.3	+	6	2687	c.2616G>A	c.(2614-2616)ctG>ctA	p.L872L	NLRP8_uc010etg.3_Silent_p.L853L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	872						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGACCCACCTGAGCTTGGCAG	0.517000														175			70		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3085322	3085322	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:3085322C>T	uc003bpc.3	+	22	3084	c.2745C>T	c.(2743-2745)tcC>tcT	p.S915S	CNTN4_uc021wsg.1_Silent_p.S915S|CNTN4_uc003bpe.3_Silent_p.S587S|CNTN4_uc003bpf.3_Silent_p.S586S|CNTN4_uc003bpg.3_Silent_p.S171S	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	915	Fibronectin type-III 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CATCAGACTCCAAAATTATCC	0.368000														67			23		0	0	1	0	0
AP3M2	10947	broad.mit.edu	37	8	42015560	42015560	+	Silent	SNP	C	T	T	rs113481990		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:42015560C>T	uc003xop.3	+	3	666	c.375C>T	c.(373-375)acC>acT	p.T125T	AP3M2_uc003xoo.3_Silent_p.T125T|AP3M2_uc010lxe.3_Non-coding_Transcript|AP3M2_uc003xoq.2_Silent_p.T10T	NM_001134296	NP_006794	P53677	AP3M2_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA.	125					intracellular protein transport|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			CATTGGCTACCGAGTCGAACA	0.428000														114			15		0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80550833	80550833	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:80550833G>A	uc003khc.4	+	5	711	c.469G>A	c.(469-471)Gag>Aag	p.E157K	RNU5E-1_uc011cto.1_Intron|CKMT2_uc010jaq.3_Missense_Mutation_p.E157K|CKMT2_uc003khd.4_Missense_Mutation_p.E157K|LOC100131067_uc003khe.2_Intron|LOC100131067_uc003khf.2_Intron|LOC100131067_uc003khg.2_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric) (CKMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	157					creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	p.D156N(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GCAGTTCGACGAGCATTACGT	0.637000														63			31		0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105797580	105797580	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:105797580C>T	uc001pix.2	+	12	2407	c.1961C>T	c.(1960-1962)cCc>cTc	p.P654L	GRIA4_uc001piw.2_Missense_Mutation_p.P654L	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	654					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.P654L(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATGGTCTCTCCCATAGAAAGT	0.418000														52			14		0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120197765	120197765	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:120197765G>A	uc002tma.3	-	12	1477	c.1251C>T	c.(1249-1251)gcC>gcT	p.A417A	SCTR_uc002tlz.3_Silent_p.A239A	NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	417					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	TGCTGAAGGAGGCCACGGGGT	0.637000														25			5		0	0	1	0	0
WFDC2	10406	broad.mit.edu	37	20	44108722	44108722	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44108722C>T	uc002xoo.3	+	2	392	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	WFDC2_uc002xoq.3_Non-coding_Transcript|WFDC2_uc002xop.3_Missense_Mutation_p.P74S|WFDC2_uc002xor.3_Missense_Mutation_p.P71S	NM_006103	NP_006094	Q14508	WFDC2_HUMAN	Homo sapiens WAP four-disulfide core domain 2 (WFDC2), mRNA.	122	WAP 2.				proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				CTGTGTCACTCCCAATTTCTG	0.572000														110			31		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800866	185800866	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:185800866G>A	uc002uph.3	+	3	1337	c.743G>A	c.(742-744)aGa>aAa	p.R248K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	248						intracellular	zinc ion binding	p.R248I(2)|p.S247N(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGATTTAGCAGAAAAAGTAGA	0.428000														138			45		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33916036	33916036	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:33916036G>A	uc001zhi.3	+	19	2456	c.2386G>A	c.(2386-2388)Gga>Aga	p.G796R	RYR3_uc010bar.3_Missense_Mutation_p.G796R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	796	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGACGTCATGGAGAGTTTAA	0.403000														103			12		0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35550838	35550838	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35550838C>T	uc002nxq.2	+	6	596	c.351C>T	c.(349-351)ttC>ttT	p.F117F	HPN_uc002nxr.2_Silent_p.F117F|HPN_uc010xsh.1_Silent_p.F86F|HPN_uc002nxt.1_5'UTR|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	117	SRCR.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CGTCGGGCTTCTTCTGTGTGG	0.697000														13			6		0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69652866	69652866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:69652866C>T	uc001sut.4	+	5	1301	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	CPSF6_uc001suu.4_Silent_p.P434P|CPSF6_uc010stk.2_Silent_p.P28P	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	397	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ACTATGGCCCCCCTGGAAGGT	0.418000														77			10		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107012559	107012559	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:107012559C>T	uc001kyi.1	+	22	3359	c.3132C>T	c.(3130-3132)atC>atT	p.I1044I	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1044						integral to membrane	neuropeptide receptor activity	p.I1044I(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGGACCAGATCCTCATTGCCG	0.527000														98			46		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41648155	41648155	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41648155C>T	uc002yyq.1	-	10	2677	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	742	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AACTTGGATTCGGCCATTTAG	0.512000														39			27		0	0	1	0	0
TRIM40	135644	broad.mit.edu	37	6	30105149	30105149	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30105149C>T	uc003npk.2	+	1	722	c.336C>T	c.(334-336)agC>agT	p.S112S	TRIM40_uc003npm.2_Silent_p.S112S	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	Homo sapiens tripartite motif containing 40 (TRIM40), mRNA.	112						intracellular	zinc ion binding			ovary(1)	1						ATGCCCTCAGCCACTACAAGG	0.547000														82			11		0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122281721	122281721	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:122281721C>T	uc001ubj.3	-	11	889	c.849G>A	c.(847-849)gaG>gaA	p.E283E	HPD_uc001ubk.3_Silent_p.E244E	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	283					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	CCAGGCCTCTCTCTCTCAAGT	0.532000														39			23		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20625847	20625847	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:20625847G>A	uc001mqd.3	+	2	829	c.556G>A	c.(556-558)Gat>Aat	p.D186N	SLC6A5_uc009yic.3_Intron	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	186					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CGAGCAAGGGGATGAGAATAA	0.607000														112			44		0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31653928	31653928	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:31653928C>T	uc001mtc.3	+	6	938	c.903C>T	c.(901-903)atC>atT	p.I301I	ELP4_uc001mtb.3_Silent_p.I301I|ELP4_uc010rdz.2_Silent_p.I302I			Q96EB1	ELP4_HUMAN	Homo sapiens elongation protein 4 homolog (S. cerevisiae) (ELP4), mRNA.	301					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|cytoplasm|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CCTGCATCATCACAATGCCAA	0.398000														74			43		0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170503	58170503	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58170503G>A	uc010rkf.2	-	0	380	c.380C>T	c.(379-381)cCc>cTc	p.P127L		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTAATGTAGGGGTTTGCACAC	0.498000														104			46		0	0	1	0	0
TMEM207	131920	broad.mit.edu	37	3	190147432	190147432	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:190147432G>A	uc003fsj.2	-	4	460	c.393C>T	c.(391-393)ggC>ggT	p.G131G		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	Homo sapiens transmembrane protein 207 (TMEM207), mRNA.	131						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		AGCCTAAAGGGCCAAAACATG	0.408000														88			18		0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598400	49598400	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:49598400C>T	uc010rhy.2	+	1	991	c.513C>T	c.(511-513)tcC>tcT	p.S171S	LOC440040_uc009ymb.3_Silent_p.S171S					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		AGGCAAGGTCCATGGTGGACA	0.443000														26			35		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178410064	178410064	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178410064G>A	uc003mjr.3	-	8	2462	c.2283C>T	c.(2281-2283)ctC>ctT	p.L761L	GRM6_uc003mjq.3_Silent_p.L164L	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	761					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ACGTGACCATGAGCAGGAGGC	0.622000														74			24		0	0	1	0	0
SLC36A3	285641	broad.mit.edu	37	5	150666980	150666980	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:150666980C>T	uc003ltx.2	-	6	1077	c.658G>A	c.(658-660)Gag>Aag	p.E220K	SLC36A3_uc003ltv.2_Missense_Mutation_p.E164K|SLC36A3_uc003ltw.2_Missense_Mutation_p.E179K	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	179						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCAGAATCTCCCTGGGCTGG	0.507000														67			7		0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846378	47846378	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:47846378G>A	uc011dwm.2	-	2	2236	c.2202C>T	c.(2200-2202)ttC>ttT	p.F734F	PTCHD4_uc011dwn.2_Silent_p.F481F	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	734						integral to membrane	hedgehog receptor activity										ATACAAATGTGAAAAGCAGTG	0.403000														21			9		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107113782	107113782	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:107113782G>A	uc001tlt.3	+	11	1350	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.E395K|RFX4_uc001tls.3_Missense_Mutation_p.E404K|RFX4_uc001tlv.3_Missense_Mutation_p.E301K	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	395	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GTCTCCCATCGAGTCCTACAT	0.527000														76			31		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124761637	124761637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124761637C>T	uc001qbg.3	-	10	1749	c.1609G>A	c.(1609-1611)Gac>Aac	p.D537N	ROBO4_uc010sas.2_Missense_Mutation_p.D392N|ROBO4_uc001qbh.2_Missense_Mutation_p.D427N|ROBO4_uc001qbi.3_Missense_Mutation_p.D95N|ROBO4_uc010sat.1_Missense_Mutation_p.D95N	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	537					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTGCTCAGGTCCCGAGAGCCA	0.647000														32			16		0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82625885	82625885	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:82625885C>T	uc001ozt.3	+	2	349	c.105C>T	c.(103-105)gtC>gtT	p.V35V	C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_5'UTR|C11orf82_uc009yvd.2_Silent_p.V35V	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	35					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TAATCCTGGTCTCCAAAAGGT	0.393000														39			13		0	0	1	0	0
FAM180A	389558	broad.mit.edu	37	7	135419000	135419000	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:135419000G>A	uc003vtd.3	-	2	511	c.245C>T	c.(244-246)tCc>tTc	p.S82F	FAM180A_uc010lmt.3_Non-coding_Transcript|FAM180A_uc010lmu.2_Missense_Mutation_p.S82F	NM_205855	NP_995327	Q6UWF9	F180A_HUMAN	Homo sapiens family with sequence similarity 180, member A (FAM180A), mRNA.	82						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						CTTCCGCAAGGAGGCCAGCTC	0.577000														97			44		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167240194	167240194	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:167240194C>T	uc003fev.1	-	11	1931	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	WDR49_uc003feu.1_Missense_Mutation_p.E368K|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	543										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AAAGAAATTTCCTTTTGAATC	0.318000														28			49		0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18250623	18250623	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:18250623G>C	uc001ipo.2	+	2	648	c.375G>C	c.(373-375)caG>caC	p.Q125H	SLC39A12_uc001ipn.2_Missense_Mutation_p.Q125H|SLC39A12_uc001ipp.2_Missense_Mutation_p.Q125H|SLC39A12_uc010qck.1_5'UTR	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	125					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.H124Q(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTATTCATCAGGAAGAGATCT	0.383000														70			28		0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8692525	8692525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8692525G>A	uc001quo.1	-	1	221	c.56C>T	c.(55-57)tCc>tTc	p.S19F		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	19						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					GAACATTTGGGAAGAGAAGCA	0.403000														144			38		0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183196718	183196718	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:183196718G>A	uc001gqa.2	+	9	1668	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	LAMC2_uc001gpz.4_Missense_Mutation_p.D452N|LAMC2_uc010poa.2_Missense_Mutation_p.D152N	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	452	Laminin EGF-like 5.				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						TTTCTACAACGATCCGCACGA	0.557000														141			61		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531592	50531592	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50531592A>T	uc021pqb.1	+	0	1002	c.1002A>T	c.(1000-1002)gaA>gaT	p.E334D	C10orf71_uc021pqa.1_Missense_Mutation_p.E333D|C10orf71_uc021pqc.1_Missense_Mutation_p.E334D	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	334										endometrium(1)	1						GCAGTCAGGAAGAGAACAGAC	0.582000														54			11		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123848171	123848171	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123848171C>T	uc001pzm.1	-	0	228	c.228G>A	c.(226-228)ctG>ctA	p.L76L		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGAGGTGCCCCAGGAAGTGGT	0.547000														36			12		0	0	1	0	0
TNP2	7142	broad.mit.edu	37	16	11363045	11363045	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:11363045G>A	uc002das.3	-	0	116	c.75C>T	c.(73-75)acC>acT	p.T25T	RMI2_uc002daq.1_Intron	NM_005425	NP_005416	Q05952	STP2_HUMAN	Homo sapiens transition protein 2 (during histone to protamine replacement) (TNP2), mRNA.	25					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						GGCGGGTGCAGGTGCGGCTTT	0.632000														154			38		0	0	1	0	0
MED9	55090	broad.mit.edu	37	17	17394729	17394729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:17394729C>T	uc002grh.1	+	1	417	c.361C>T	c.(361-363)Ctc>Ttc	p.L121F		NM_018019	NP_060489	Q9NWA0	MED9_HUMAN	Homo sapiens mediator complex subunit 9 (MED9), mRNA.	121					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCTGCAGAGCCTCCGGGAGCA	0.557000														53			30		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	657217	657217	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:657217C>T	uc001qii.1	+	7	735	c.735C>T	c.(733-735)ttC>ttT	p.F245F	B4GALNT3_uc001qij.1_Silent_p.F147F	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	245						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGTACTACTTCGAGGTGCTGC	0.642000														36			20		0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27840182	27840182	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:27840182G>A	uc022bud.1	+	0	759	c.759G>A	c.(757-759)gtG>gtA	p.V253V	MAGEB10_uc004dbw.3_Silent_p.V253V	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	253	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AAGATTTGGTGAAAGAAAATT	0.478000														26			5		0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109730818	109730818	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:109730818G>A	uc021orb.1	+	8	1282	c.1061G>A	c.(1060-1062)tGg>tAg	p.W354*	KIAA1324_uc009wex.2_Nonsense_Mutation_p.W304*|KIAA1324_uc010ovg.2_Nonsense_Mutation_p.W252*|KIAA1324_uc009wey.3_Nonsense_Mutation_p.W267*|KIAA1324_uc001dwr.3_Nonsense_Mutation_p.W4*	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	354					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		ATGTACAAATGGGCCAAGCCG	0.532000														90			33		0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42577678	42577678	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42577678G>A	uc003clf.2	+	12	1403	c.1279G>A	c.(1279-1281)Ggc>Agc	p.G427S	VIPR1_uc021wwl.1_Missense_Mutation_p.G386S|VIPR1_uc011azn.2_Missense_Mutation_p.G400S|VIPR1_uc011azl.1_Missense_Mutation_p.G379S|VIPR1_uc011azm.1_Missense_Mutation_p.G217S|VIPR1_uc003clg.2_Missense_Mutation_p.G72S	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	427					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		AGGCAGCAACGGCGCCACGTG	0.692000														13			3		0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387758	46387758	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46387758G>A	uc002pds.1	-	0	1619	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 1 (IRF2BP1), mRNA.	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CATTCTTCAGGGCGGCAATGG	0.711000														37			14		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107062171	107062171	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:107062171C>T	uc021ser.1	-	150		c.6815G>A								Parts of antibodies, mostly variable regions.																		GGTCACAGAGCTCAGCTTCAG	0.542000														168			51		0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12186665	12186665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12186665G>A	uc002mtb.2	+	3	873	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	ZNF844_uc010dym.1_Missense_Mutation_p.E87K	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TCAAATACATGAAAGAACTCA	0.373000														35			9		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55002508	55002508	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:55002508C>T	uc003dhf.3	+	27	2529	c.2481C>T	c.(2479-2481)ttC>ttT	p.F827F	CACNA2D3_uc003dhg.1_Silent_p.F733F|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	827						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTGAATTTTTCCAAAGGAAGT	0.368000														14			4		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844591	123844591	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:123844591C>T	uc001lfv.3	+	3	2936	c.2576C>T	c.(2575-2577)tCt>tTt	p.S859F	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.S859F|TACC2_uc010qtv.2_Missense_Mutation_p.S859F	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	859						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)				AAAGAGACTTCTCCAAGCCAT	0.512000														88			41		0	0	1	0	0
ACTR3C	653857	broad.mit.edu	37	7	149986573	149986573	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149986573G>A	uc003wgu.2	-	3	453	c.263C>T	c.(262-264)cCt>cTt	p.P88L	ACTR3C_uc022aps.1_Missense_Mutation_p.P88L	NM_001164459	NP_001157931	Q9C0K3	ARP3C_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog C (yeast) (ACTR3C), transcript variant 2, mRNA.	88					regulation of actin filament polymerization	cytoskeleton	ATP binding|actin binding										TGACTGCTCAGGAGGGATTCC	0.483000														20			4		0	0	1	0	0
TAF8	129685	broad.mit.edu	37	6	42034064	42034064	+	Silent	SNP	C	T	T	rs80150955	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:42034064C>T	uc003ort.3	+	5	533	c.504C>T	c.(502-504)ccC>ccT	p.P168P	TAF8_uc003ors.3_Silent_p.P168P|TAF8_uc003oru.1_Silent_p.P168P|TAF8_uc003orv.1_Silent_p.P168P|TAF8_uc011dun.2_Silent_p.P105P			Q7Z7C8	TAF8_HUMAN	Homo sapiens TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa (TAF8), mRNA.	168					cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			ACCGTGAGCCCGTGTCAGACT	0.577000														32			15		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120906771	120906771	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:120906771C>T	uc003vjq.4	+	19	2989	c.2542C>T	c.(2542-2544)Cta>Tta	p.L848L		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	848						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					ATCACGTCCCCTAGAGAATAC	0.403000														97			29		0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150715528	150715528	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150715528G>A	uc011kvc.2	-	6	1801	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	575					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTCCGGAATGAAAGACCTGA	0.677000											OREG0018444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			11		0	0	1	0	0
HCAR1	27198	broad.mit.edu	37	12	123214634	123214634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:123214634C>T	uc001ucz.3	-	0	496	c.253G>A	c.(253-255)Gac>Aac	p.D85N	HCAR1_uc001ucw.1_Non-coding_Transcript	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.	85					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						CAGGGAATGTCCCCAAAAGCC	0.527000														28			14		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82816544	82816544	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:82816544G>A	uc003kii.3	+	6	2775	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E807K|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	807	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.E807K(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GTCATGGGATGAAGATAATAC	0.413000														97			15		0	0	1	0	0
EXOSC7	23016	broad.mit.edu	37	3	45030635	45030635	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:45030635G>A	uc003coi.2	+	1	90	c.61G>A	c.(61-63)Gac>Aac	p.D21N	EXOSC7_uc003coh.1_5'UTR|EXOSC7_uc011bae.2_Missense_Mutation_p.D21N|EXOSC7_uc010his.1_Intron	NM_015004	NP_055819	Q15024	EXOS7_HUMAN	Homo sapiens exosome component 7 (EXOSC7), transcript variant 1, mRNA.	21					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|RNA binding|protein binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		CACCTAGGAAGACCTCCGTGT	0.507000														35			11		0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25665215	25665215	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:25665215G>A	uc011awn.1	-	20	2561	c.2518C>T	c.(2518-2520)Cct>Tct	p.P840S	TOP2B_uc003cdj.2_Missense_Mutation_p.P835S|TOP2B_uc021wug.1_Missense_Mutation_p.P835S	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	840					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TCCACAGCAGGAAAAAGTAGC	0.333000														25			9		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	53017610	53017610	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:53017610G>A	uc002lga.3	-	8	895	c.835C>T	c.(835-837)Cct>Tct	p.P279S	TCF4_uc010xdu.1_Missense_Mutation_p.P47S|TCF4_uc010xdv.1_Missense_Mutation_p.P47S|TCF4_uc021uki.1_Missense_Mutation_p.P106S|TCF4_uc002lfx.2_Missense_Mutation_p.P106S|TCF4_uc010xdw.1_Missense_Mutation_p.P47S|TCF4_uc002lfy.2_Missense_Mutation_p.P135S|TCF4_uc010xdx.1_Missense_Mutation_p.P153S|TCF4_uc021ukj.1_Intron|TCF4_uc021ukk.1_Intron|TCF4_uc021ukl.1_Missense_Mutation_p.P175S|TCF4_uc002lfz.2_Missense_Mutation_p.P177S|TCF4_uc010dph.1_Missense_Mutation_p.P177S|TCF4_uc010dpi.3_Missense_Mutation_p.P177S|TCF4_uc010xdy.1_Missense_Mutation_p.P153S|TCF4_uc002lgc.4_Missense_Mutation_p.P98S|TCF4_uc021ukm.1_Silent_p.F61F	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	177					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AAACCTGGAGGAACTTTTCGA	0.363000														69			23		0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105180799	105180799	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105180799C>T	uc001ypb.2	+	20	3443	c.3300C>T	c.(3298-3300)gcC>gcT	p.A1100A	INF2_uc001ypc.2_Silent_p.A1100A|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	1100					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGGAGGGGGCCTGGCCGGTGA	0.632000														20			5		0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7260984	7260984	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7260984G>A	uc001qsn.3	-	1	256	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	C1RL_uc009zft.3_Missense_Mutation_p.P55S|C1RL_uc001qso.2_Missense_Mutation_p.P55S|MATL2963_uc001qsp.3_Non-coding_Transcript|MATL2963_uc010sgb.1_5'Flank	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	55	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGGTACCCGGGGGATGTCAGC	0.622000														50			22		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	95491	95491	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000209.1:95491C>T	uc002quk.1	+	7	932	c.877C>T	c.(877-879)Cct>Tct	p.P293S	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_5'Flank	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	293							receptor activity										TGATCAAGACCCTCAGGAGGT	0.488000														217			83		0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210414908	210414908	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:210414908C>T	uc001hhy.3	+	3	476	c.297C>T	c.(295-297)atC>atT	p.I99I	SERTAD4_uc009xcw.3_Silent_p.I99I	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	99							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGTAGACCATCTCAATTTTTG	0.328000														66			18		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11725817	11725817	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11725817C>T	uc002gne.3	+	46	8981	c.8913C>T	c.(8911-8913)gcC>gcT	p.A2971A	DNAH9_uc010coo.3_Silent_p.A2265A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2971	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTTCCCAGCCATTGTGAACT	0.552000														67			48		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757189	56757189	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56757189C>T	uc010rjp.2	+	0	801	c.801C>T	c.(799-801)tcC>tcT	p.S267S		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CTAATAATTCCCAGGAAAATA	0.363000														64			29		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172674507	172674507	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:172674507G>A	uc003fin.4	-	5	1225	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	347					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GAGTTTTTGTGAAAGCATCTT	0.333000														43			18		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72086592	72086592	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:72086592G>A	uc004ahh.2	-	3	1592	c.1316C>T	c.(1315-1317)tCa>tTa	p.S439L		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	439	Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGTTGGGAATGAAGCCAAGCT	0.353000														57			27		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113085140	113085140	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113085140G>A	uc021qqp.1	+	7	1332	c.960G>A	c.(958-960)gaG>gaA	p.E320E	NCAM1_uc001pno.3_Silent_p.E204E|NCAM1_uc001pnp.3_Silent_p.E320E|NCAM1_uc021qqo.1_Silent_p.E320E|NCAM1_uc001pnq.3_Silent_p.E320E|NCAM1_uc001pnr.3_Silent_p.E320E	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	322	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGGAATTAGAGGAGCAGGTCA	0.448000														23			9		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699242	43699242	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43699242G>A	uc002ovy.3	-	3	995	c.893C>T	c.(892-894)cCc>cTc	p.P298L	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.P205L	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	298	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CGTGACATTGGGTAGAATGAG	0.483000														274			68		0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63529377	63529377	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:63529377G>A	uc011kdm.2	+	1	291	c.112G>A	c.(112-114)Gga>Aga	p.G38R		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	38	KRAB.				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						AGAGAACTACGGAAACCTGTT	0.388000														18			25		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20846357	20846357	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20846357G>A	uc001vxe.3	-	38	5587	c.5547C>T	c.(5545-5547)gcC>gcT	p.A1849A	TEP1_uc010ahk.3_Silent_p.A1192A|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.A1741A|TEP1_uc010tlh.1_Silent_p.A187A	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1849					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCACATTGAAGGCCAAGGTAC	0.617000														77			31		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108315553	108315553	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:108315553C>T	uc003ymn.3	-	4	1319	c.851G>A	c.(850-852)aGa>aAa	p.R284K	ANGPT1_uc011lhv.2_Missense_Mutation_p.R84K|ANGPT1_uc003ymo.3_Missense_Mutation_p.R283K|ANGPT1_uc003ymp.4_Missense_Mutation_p.R83K	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	284	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGCACAGTCTCTAAATGGTTT	0.313000														71			33		0	0	1	0	0
NEURL	9148	broad.mit.edu	37	10	105344435	105344435	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105344435G>A	uc001kxh.3	+	3	1202	c.792G>A	c.(790-792)gaG>gaA	p.E264E	NEURL_uc021pxn.1_Silent_p.E247E	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	264					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ACGGCGACGAGGCCGCGCCGG	0.761000														7			3		0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83818732	83818732	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:83818732C>T	uc011dyy.2	+	4	684	c.424C>T	c.(424-426)Cct>Tct	p.P142S	DOPEY1_uc003pjs.1_Missense_Mutation_p.P142S|DOPEY1_uc010kbl.1_Missense_Mutation_p.P142S	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	142					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AACACTGAAACCTGGTCTACA	0.388000														56			35		0	0	1	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80918997	80918997	+	Missense_Mutation	SNP	G	A	A	rs138531570	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:80918997G>A	uc002kgg.1	-	7	675	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	B3GNTL1_uc002kgf.1_Missense_Mutation_p.R110C|B3GNTL1_uc002kge.1_Non-coding_Transcript	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.	221							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TGGTCCACGCGGATGACGCCG	0.697000														15			6		0	0	1	0	0
ATHL1	80162	broad.mit.edu	37	11	291051	291051	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:291051C>T	uc010qvu.2	+	3	959	c.844C>T	c.(844-846)Cct>Tct	p.P282S	ATHL1_uc001lor.4_Missense_Mutation_p.P105S|ATHL1_uc001los.1_Missense_Mutation_p.P282S|ATHL1_uc001lou.4_5'Flank|ATHL1_uc001lov.4_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA.	282					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGGCCTCAGTCCTGGGGGCCT	0.662000														34			23		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127622432	127622432	+	Silent	SNP	C	T	T	rs28763928		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:127622432C>T	uc003kuu.3	-	54	7429	c.6990G>A	c.(6988-6990)agG>agA	p.R2330R		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2330	EGF-like 39; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.R2329Q(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTCCATCGGGCCTTCGGGCCA	0.512000														65			13		0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5612564	5612564	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:5612564G>A	uc002mcd.3	-	5	833	c.621C>T	c.(619-621)tcC>tcT	p.S207S	SAFB2_uc010xio.1_Silent_p.S207S|SAFB2_uc010xip.1_Non-coding_Transcript	NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding	p.S207Y(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GCTCCAAAAGGGATTCTTCAA	0.338000														65			6		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64212957	64212957	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:64212957C>T	uc002jfn.4	-	5	792	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	245	Sushi 4.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CATTCTATTTCTTCCGGGCCA	0.418000														111			49		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75069974	75069974	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:75069974C>T	uc009xrc.3	-	12	1529	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	TTC18_uc001jty.3_Missense_Mutation_p.E470K|TTC18_uc009xrd.1_Missense_Mutation_p.E284K	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	470							binding	p.E470K(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AGCTGAATTTCCAACACAATG	0.348000														124			49		0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16411595	16411595	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:16411595C>T	uc003cay.3	-	5	1300	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	RFTN1_uc010hes.3_Missense_Mutation_p.G304R	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	340						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TTCACTATTCCAAGGTAGAAG	0.493000														111			24		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38964208	38964208	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38964208G>A	uc002oit.3	+	27	4087	c.3957G>A	c.(3955-3957)gaG>gaA	p.E1319E	RYR1_uc002oiu.3_Silent_p.E1319E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1319	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCCCGCCGAGGACGAGGCCC	0.692000														3			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061487	9061487	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9061487C>T	uc002mkp.3	-	2	26163	c.25959G>A	c.(25957-25959)gtG>gtA	p.V8653V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8655	Ser-rich.|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						GTTTATAAATCACAGTCCCTA	0.448000														58			21		0	0	1	0	0
CCDC70	83446	broad.mit.edu	37	13	52439799	52439799	+	RNA	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:52439799A>G	uc010tgr.1	-	0		c.421T>C			CCDC70_uc001vfu.4_Silent_p.E95E|CCDC70_uc021rjv.1_Silent_p.E95E			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CTTTCTGGGAAGAGGAGAAAA	0.468000														101			13		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2865964	2865964	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:2865964G>A	uc010ckd.3	+	5	292	c.202_splice	c.e5-1	p.G68_splice	RAP1GAP2_uc010cke.3_Intron	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	68					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						GTTTCTATAGGGGATCAAGCT	0.567000														12			3		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32017145	32017145	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32017145G>A	uc003nzl.2	-	27	9855	c.9653C>T	c.(9652-9654)aCc>aTc	p.T3218I	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3265	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCCCCACGGTGACCTCGCT	0.687000														38			23		0	0	1	0	0
C11orf65	160140	broad.mit.edu	37	11	108256663	108256664	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:108256663_108256664AG>GA	uc001pkh.3	-	7	840_841	c.770_771CT>TC	c.(769-771)tct>tTC	p.S257F	C11orf65_uc010rvx.1_Missense_Mutation_p.S208F|C11orf65_uc009yxu.2_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.	257										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		AGTTAGCCGAAGAGTTGCTTGT	0.337000														219			17		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51516198	51516198	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:51516198C>T	uc010ric.2	+	0	917	c.917C>T	c.(916-918)tCa>tTa	p.S306L		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	306					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						AAGGACATTTCAGGTGACAAA	0.358000														39			21		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655781	19655781	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19655781C>T	uc002nmw.4	+	7	2530	c.2445C>T	c.(2443-2445)gtC>gtT	p.V815V	CILP2_uc002nmv.4_Silent_p.V809V	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	809						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	p.G815G(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCGCCCTGGTCACCGCCACCC	0.746000														15			8		0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905628	15905628	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15905628C>T	uc010xos.2	+	0	770	c.770C>T	c.(769-771)tCc>tTc	p.S257F		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						GGCTTTGCCTCCGTCATTTAC	0.572000														51			18		0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8399573	8399573	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:8399573G>A	uc001apb.3	+	6	1795	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K	SLC45A1_uc001apc.3_Missense_Mutation_p.E297K	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	599					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCTGGAGGAGTTCCTCAG	0.652000														72			20		0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29650615	29650615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:29650615C>T	uc001rix.1	-	0	5	c.5G>A	c.(4-6)gGc>gAc	p.G2D		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	2					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GGCCAGCAGGCCCATAGCCTC	0.652000														54			9		0	0	1	0	0
ASRGL1	80150	broad.mit.edu	37	11	62123837	62123837	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62123837G>A	uc001nte.4	+	2	515	c.231G>A	c.(229-231)atG>atA	p.M77I	ASRGL1_uc001ntf.4_Missense_Mutation_p.M77I|ASRGL1_uc001ntg.4_Intron|ASRGL1_uc001nth.1_5'Flank	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN	Homo sapiens asparaginase like 1 (ASRGL1), transcript variant 2, mRNA.	77					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	AGGTTGAAATGGATGCTAGTA	0.448000														111			40		0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66044946	66044946	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:66044946C>T	uc011dxu.1	-	10	2231	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	EYS_uc003peq.3_Missense_Mutation_p.E565K|EYS_uc003per.1_Missense_Mutation_p.E565K|EYS_uc021zbn.1_Missense_Mutation_p.E565K	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	565					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTTGTATTTTCCAGATACATG	0.358000														72			40		0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237167	56237167	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56237167C>T	uc010rjk.2	-	0	848	c.807G>A	c.(805-807)ggG>ggA	p.G269G	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CCACCATCTTCCCCTGCTCCA	0.463000														33			7		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66931444	66931444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:66931444G>A	uc004dwu.2	+	3	3201	c.2086G>A	c.(2086-2088)Gac>Aac	p.D696N	AR_uc022byk.1_Missense_Mutation_p.D696N|AR_uc004dwv.2_Missense_Mutation_p.D164N	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	695	Interaction with MYST2.|Ligand-binding.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CAACCAGCCCGACTCCTTTGC	0.527000									Androgen Insensitivity Syndrome					24			9		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140167504	140167504	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:140167504G>A	uc003etn.3	+	5	1121	c.931G>A	c.(931-933)Gac>Aac	p.D311N	CLSTN2_uc003etm.2_Missense_Mutation_p.D311N	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	311					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.C310S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GAAGGGTTGTGACCGGGAGAC	0.463000										HNSCC(16;0.037)				93			36		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31816128	31816128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:31816128G>A	uc001ivs.4	+	8	3374	c.3311G>A	c.(3310-3312)aGc>aAc	p.S1104N	ZEB1_uc001ivr.4_Missense_Mutation_p.S886N|ZEB1_uc010qef.2_Missense_Mutation_p.S886N|ZEB1_uc001ivu.4_Missense_Mutation_p.S1105N|ZEB1_uc010qeh.2_Missense_Mutation_p.S1037N|ZEB1_uc001ivv.4_Missense_Mutation_p.S1084N|ZEB1_uc001ivt.4_Missense_Mutation_p.S886N|ZEB1_uc009xlo.2_Missense_Mutation_p.S1087N|ZEB1_uc009xlp.3_Missense_Mutation_p.S1088N	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	1104	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CAAGCAAGCAGCTTAGGACAA	0.403000														20			9		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102483436	102483436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:102483436C>T	uc003pqp.4	+	13	2599	c.2306C>T	c.(2305-2307)cCc>cTc	p.P769L	GRIK2_uc010kcw.3_Missense_Mutation_p.P769L|GRIK2_uc003pqo.4_Missense_Mutation_p.P769L|GRIK2_uc021zdk.1_Missense_Mutation_p.P582L|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.	769					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	p.P769>?(1)		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)	GTTGGCACTCCCATGGGTAGG	0.438000														67			47		0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103717	52103717	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:52103717G>A	uc001jje.3	-	6	1112	c.158C>T	c.(157-159)tCc>tTc	p.S53F	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.S53F|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.S53F|SGMS1_uc021pqo.1_Missense_Mutation_p.S53F|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	59	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						ATTGTCAGAGGAGACTCGGCA	0.517000														61			36		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43898243	43898243	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:43898243C>T	uc001cjk.2	+	36	5411	c.2801C>T	c.(2800-2802)cCc>cTc	p.P934L		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	1833						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GAGGGTGTCCCCCTCATCAGC	0.607000														130			60		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158607836	158607836	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158607836C>T	uc001fst.1	-	35	5375	c.5176G>A	c.(5176-5178)Gaa>Aaa	p.E1726K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1726					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCAGGATTCCTCATCATCT	0.418000														150			10		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021437	132021437	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:132021437C>T	uc002tsn.2	+	14	2461	c.2409C>T	c.(2407-2409)atC>atT	p.I803I	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.I403I|POTEE_uc002tsl.2_Silent_p.I385I|POTEE_uc010fmy.1_Silent_p.I267I	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	803	Actin-like.						ATP binding										AGCACCCCATCCTGCTGACCG	0.587000														161			66		0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55815961	55815961	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55815961G>A	uc002qkf.3	+	15	1565	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	BRSK1_uc002qkg.3_Missense_Mutation_p.E464K|BRSK1_uc002qkh.3_Missense_Mutation_p.E159K	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	464					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GGCTGGAGATGAGGCTCGAGG	0.672000														14			11		0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20943236	20943237	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20943236_20943237CC>TT	uc001vxo.4	+	4	623_624	c.477_478CC>TT	c.(475-480)ttccct>ttTTct	p.P160S	PNP_uc010ahn.3_3'UTR|PNP_uc021rns.1_Missense_Mutation_p.P31S	NM_000270	NP_000261	P00491	PNPH_HUMAN	Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.	160					NAD biosynthesis via nicotinamide riboside salvage pathway|immune response|inosine catabolic process|interleukin-2 secretion|nicotinamide riboside catabolic process|positive regulation of T cell proliferation|positive regulation of alpha-beta T cell differentiation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	GAGATCGTTTCCCTGCCATGTC	0.470000														36			18		0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54364942	54364942	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:54364942G>A	uc003hag.4	-	4	1100	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.P186S|LNX1_uc003hah.4_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	282	PDZ 1.					cytoplasm	zinc ion binding			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)			CTTTCACTGGGATCTACTCGA	0.443000														55			26		0	0	1	0	0
KLHL5	51088	broad.mit.edu	37	4	39082836	39082836	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:39082836C>T	uc003gtr.2	+	2	1101	c.818C>T	c.(817-819)tCc>tTc	p.S273F	KLHL5_uc003gtp.3_Missense_Mutation_p.S227F|KLHL5_uc003gtq.3_Missense_Mutation_p.S86F|KLHL5_uc003gts.3_Missense_Mutation_p.S273F|KLHL5_uc003gtt.3_Missense_Mutation_p.S212F	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	273	BTB.					cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TCGTTGTGGTCCTTGATCCAG	0.333000														64			29		0	0	1	0	0
DPCD	25911	broad.mit.edu	37	10	103348040	103348040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:103348040C>T	uc010qpz.2	+	3	885	c.457C>T	c.(457-459)Cct>Tct	p.P153S	POLL_uc001ktg.1_5'Flank|POLL_uc001kth.1_5'Flank|POLL_uc001ktj.2_5'Flank|POLL_uc010qqb.2_5'Flank|POLL_uc001ktf.3_5'Flank|POLL_uc001kti.2_5'Flank|POLL_uc001ktl.3_5'Flank|POLL_uc001ktm.3_5'Flank|POLL_uc010qqc.2_5'Flank|POLL_uc010qqa.2_5'Flank|POLL_uc010qqd.2_5'Flank|DPCD_uc001ktn.3_5'Flank			Q9BVM2	DPCD_HUMAN	SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ57512;	0							protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						CGGAAGTGACCCTCTGGAACG	0.612000														9			3		0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63851848	63851848	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:63851848C>T	uc001jlt.2	+	9	3082	c.2626C>T	c.(2626-2628)Caa>Taa	p.Q876*	ARID5B_uc001jlu.2_Nonsense_Mutation_p.Q633*	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	876					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)					CCACAGACACCAAGAAAAGCT	0.483000														113			37		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064290	9064290	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9064290G>A	uc002mkp.3	-	2	23360	c.23156C>T	c.(23155-23157)tCa>tTa	p.S7719L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7721	Ser-rich.|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						GGTGAGAAGTGAAGTCACAGG	0.547000														70			34		0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82124521	82124521	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:82124521G>A	uc002fgv.3	+	3	851	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	227					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GGCCCCAATGGAAAGGCTGGC	0.413000														39			5		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167525034	167525034	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:167525034C>T	uc010jjd.3	+	8	1715	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L	ODZ2_uc003lzq.2_Missense_Mutation_p.S451L|ODZ2_uc003lzr.4_Missense_Mutation_p.S340L	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)		TTTTCAGATTCAGTGCAGGAC	0.448000														21			6		0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551092	248551092	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248551092C>T	uc001iei.1	+	0	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			CCATGTACTTCCTCCTCAGCC	0.488000														87			17		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140219477	140219477	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:140219477G>A	uc010lnk.3	-	18	3473	c.2953C>T	c.(2953-2955)Ccc>Tcc	p.P985S	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.P985S|DENND2A_uc003vvw.3_Missense_Mutation_p.P985S	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	985										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCTCCACTGGGGAGTGTTTCC	0.527000														144			10		0	0	1	0	0
IFITM1	8519	broad.mit.edu	37	11	314350	314350	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:314350C>T	uc001loy.4	+	0	360	c.180C>T	c.(178-180)tcC>tcT	p.S60S		NM_003641	NP_003632	P13164	IFM1_HUMAN	Homo sapiens interferon induced transmembrane protein 1 (9-27) (IFITM1), mRNA.	60					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCGCCTACTCCGTGAAGGTGC	0.622000														167			13		0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10689727	10689727	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:10689727G>T	uc002kos.2	-	44	7258	c.7084C>A	c.(7084-7086)Ctg>Atg	p.L2362M	PIEZO2_uc002koq.3_Missense_Mutation_p.L217M	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2362						integral to membrane	ion channel activity										CAGCTGGACAGGCTCAAAGTT	0.527000														78			9		2.17888e-05	2.18257e-05	1	1	0
APOB	338	broad.mit.edu	37	2	21252800	21252800	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21252800C>T	uc002red.3	-	10	1568	c.1440G>A	c.(1438-1440)ggG>ggA	p.G480G		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	480	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATCTTCATCCCCAGTGCAGT	0.418000														160			48		0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241555917	241555917	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241555917C>T	uc002vzq.2	+	2	582	c.386C>T	c.(385-387)tCa>tTa	p.S129L	GPR35_uc010fzi.2_5'UTR|GPR35_uc010fzh.2_5'UTR			Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 3, mRNA.	0	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		tccgatacttcaccagattca	0.522000														266			141		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56387438	56387438	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56387438G>A	uc002ivx.4	-	20	4652	c.3781C>T	c.(3781-3783)Cag>Tag	p.Q1261*	BZRAP1_uc010dcs.3_Nonsense_Mutation_p.Q1201*|BZRAP1_uc010wnt.2_Nonsense_Mutation_p.Q1261*	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1261						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					tcttcctcctGGATGTCTGAC	0.572000														59			36		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200957929	200957930	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:200957929_200957930GG>AA	uc001gvs.2	-	21	3579_3580	c.3262_3263CC>TT	c.(3262-3264)ccc>TTc	p.P1088F	KIF21B_uc009wzl.2_Missense_Mutation_p.P1088F|KIF21B_uc001gvr.2_Missense_Mutation_p.P1088F|KIF21B_uc010ppn.2_Missense_Mutation_p.P1088F	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1088					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTGCAGCTCGGGGTGAGCTTCA	0.629000														30			13		0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18735519	18735519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:18735519C>T	uc009yht.2	-	13	2165	c.1975G>A	c.(1975-1977)Ggg>Agg	p.G659R	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	659	Ig-like 4.							p.G659R(2)|p.R658C(1)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGGTCTTCCCCGCGCTCCATG	0.592000														76			28		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34174801	34174801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34174801G>A	uc001bxm.1	-	21	3641	c.3464C>T	c.(3463-3465)cCt>cTt	p.P1155L	CSMD2_uc001bxn.1_Missense_Mutation_p.P1115L|CSMD2_uc001bxo.1_Missense_Mutation_p.P28L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1115	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTAGTTCACAGGAAAGTTGGG	0.483000														56			19		0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47228866	47228866	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:47228866G>A	uc002pfm.3	-	9	1342	c.1309C>T	c.(1309-1311)Ccc>Tcc	p.P437S	STRN4_uc002pfl.3_Missense_Mutation_p.P430S|STRN4_uc010xyf.2_Non-coding_Transcript|STRN4_uc010xyg.1_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	430						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GTGAACTTGGGGTTCCACGTC	0.602000														39			14		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57425845	57425845	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57425845C>T	uc001cyp.3	-	1	164	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_5'UTR	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	33					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTGGCCTTTCACCTCTAAAA	0.393000														76			26		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24250784	24250784	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24250784G>A	uc003xdz.2	+	2	437	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	ADAMDEC1_uc010lub.2_5'UTR|ADAMDEC1_uc011lab.1_5'UTR	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	73					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GGAAAGGTATGAACCTGAAGT	0.289000														71			25		0	0	1	0	0
UBA1	7317	broad.mit.edu	37	X	47060944	47060944	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:47060944C>T	uc004dhj.4	+	7	897	c.746C>T	c.(745-747)tCc>tTc	p.S249F	UBA1_uc004dhk.4_Missense_Mutation_p.S249F	NM_153280	NP_695012	P22314	UBA1_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 1 (UBA1), transcript variant 2, mRNA.	249	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GACTTTGTCTCCTTTTCAGAA	0.547000														12			28		0	0	1	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114107626	114107626	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:114107626G>A	uc001vtq.1	-	0	214	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.	43					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			AGGTGGTCCAGGCCCCCGGAA	0.612000														71			26		0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890862	23890862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:23890862C>T	uc001ywj.4	-	0	2132	c.2028G>A	c.(2026-2028)gaG>gaA	p.E676E		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GTGTGGGCACCTCCGCTTGCG	0.682000														11			4		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382676	22382676	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22382676C>T	uc001yuc.1	+	6	1185	c.204C>T	c.(202-204)ttC>ttT	p.F68F	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.F68F	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACTTGGCCTTCCTGGATGCAT	0.483000														284			29		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17444715	17444716	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17444715_17444716GG>AA	uc002zlw.3	-	8	1588_1589	c.1480_1481CC>TT	c.(1480-1482)ccg>TTg	p.P494L		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	494										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGCAGATGCCGGGTTCTGCTGT	0.594000														44			15		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6697549	6697549	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6697549G>A	uc002mfm.3	-	20	2664	c.2602C>T	c.(2602-2604)Cac>Tac	p.H868Y		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	868					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCTGGATTGTGGAGTAGTTCC	0.592000														44			8		0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169293	90169293	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:90169293C>T	uc003hsm.1	-	1	2488	c.1969G>A	c.(1969-1971)Gga>Aga	p.G657R	GPRIN3_uc021xqb.1_Missense_Mutation_p.G657R	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	657										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGAGTGAGTCCTACCTGAGCA	0.577000														62			17		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57929968	57929968	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:57929968G>A	uc002aei.3	+	8	1140	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	GCOM1_uc002aej.3_Missense_Mutation_p.E337K|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.E337K|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.E337K	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	337					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TTCTGACAAGGAAAGGTAAGA	0.383000														21			8		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150886928	150886928	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:150886928C>T	uc003lue.4	-	21	12317	c.12304G>A	c.(12304-12306)Gag>Aag	p.E4102K	FAT2_uc003lud.4_Missense_Mutation_p.E709K	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	4102					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)			GGGTTGAGCTCGATGGCAGGC	0.567000														89			20		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170964646	170964646	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:170964646G>A	uc010plz.2	+	12	1465	c.1311G>A	c.(1309-1311)ctG>ctA	p.L437L	C1orf129_uc001ghg.3_Silent_p.L437L|C1orf129_uc009wvy.3_Silent_p.L244L	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	437							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACAGTGAGCTGAAACCGATAC	0.458000														70			27		0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612349	54612349	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:54612349G>A	uc022adk.1	+	1	519	c.114G>A	c.(112-114)gcG>gcA	p.A38A	VSTM2A_uc010kzf.3_Silent_p.A38A	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	38	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ACGTGACGGCGACCGAGGGGC	0.577000														55			17		0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42566673	42566673	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42566673G>A	uc002osj.1	-	3	510	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	GRIK5_uc010eib.1_Missense_Mutation_p.P78S	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	159						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTGGCCGAGGGGTAGTTGAAG	0.572000														54			33		0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224609	248224609	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248224609C>T	uc001idx.1	+	0	626	c.626C>T	c.(625-627)cCc>cTc	p.P209L	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTCGTGTTTCCCTTCATTGCT	0.507000														165			43		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101587521	101587521	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:101587521G>A	uc001thz.4	-	4	964	c.574C>T	c.(574-576)Caa>Taa	p.Q192*		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	192					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATCCCAACTTGAAAAACATCT	0.398000														162			26		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228560541	228560541	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228560541C>T	uc009xez.1	+	93	22106	c.22062C>T	c.(22060-22062)ccC>ccT	p.P7354P	OBSCN_uc001hsr.1_Silent_p.P1983P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7354					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACGTGGCCCTGGCCAGGTG	0.657000														9			9		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559762	140559762	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140559762G>A	uc011dai.2	+	0	2392	c.2147G>A	c.(2146-2148)aGg>aAg	p.R716K	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	716					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCTGTGTAGGAGGAGCAGG	0.657000														206			22		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189852856	189852856	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189852856C>T	uc002uqj.1	+	5	695	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	193	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CATCCTGGTTCCCCTGTAAGT	0.398000														96			39		0	0	1	0	0
CYP51A1	1595	broad.mit.edu	37	7	91753076	91753076	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:91753076G>A	uc003ulm.4	-	5	1024	c.862C>T	c.(862-864)Ctc>Ttc	p.L288F	CYP51A1_uc011khn.2_Missense_Mutation_p.L183F|CYP51A1_uc003uln.4_Missense_Mutation_p.L225F	NM_000786	NP_001139624	Q16850	CP51A_HUMAN	Homo sapiens cytochrome P450, family 51, subfamily A, polypeptide 1 (CYP51A1), transcript variant 1, mRNA.	282					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	AAAGTTTGGAGAATGTCATCA	0.343000														73			9		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766141	19766141	+	Silent	SNP	G	A	A	rs117174741	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19766141G>A	uc002nnh.4	-	10	1546	c.1518C>T	c.(1516-1518)atC>atT	p.I506I	ATP13A1_uc002nnf.4_5'UTR|ATP13A1_uc002nng.3_Silent_p.I388I	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	506					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGGCCAGGGCGATGAGGGAGG	0.627000														50			17		0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735888	41735888	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:41735888C>T	uc003azw.3	+	9	1101	c.885C>T	c.(883-885)ttC>ttT	p.F295F		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	311					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TACCCGTGTTCCCCGGCGGGA	0.667000														101			29		0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48541212	48541212	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48541212C>T	uc010wmm.1	+	9	1259	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	ACSF2_uc002iqu.2_Silent_p.F360F|ACSF2_uc010wml.1_Silent_p.F317F|ACSF2_uc010wmn.1_Silent_p.F347F|ACSF2_uc010wmo.1_Silent_p.F200F	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	360					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCACGATGTTCGTGGACATTC	0.577000														97			46		0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8167710	8167710	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:8167710G>A	uc003sro.4	-	12	1259	c.1123C>T	c.(1123-1125)Ctg>Ttg	p.L375L	ICA1_uc010ktr.3_Silent_p.L404L|ICA1_uc003srm.3_Silent_p.L375L|ICA1_uc003srn.4_Silent_p.L301L|ICA1_uc003srq.3_Silent_p.L375L|ICA1_uc003srr.3_Silent_p.L374L|ICA1_uc010kts.3_Non-coding_Transcript	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	375					neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TCACTCAACAGCAGCAGGTCA	0.552000														170			33		0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148968136	148968136	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:148968136C>T	uc003ilf.3	+	19	1961	c.1961C>T	c.(1960-1962)cCt>cTt	p.P654L	ARHGAP10_uc003ilg.3_Missense_Mutation_p.P303L|ARHGAP10_uc003ilh.3_Missense_Mutation_p.P235L|ARHGAP10_uc003ili.3_Missense_Mutation_p.P87L	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	654					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GTCCCTGGGCCTCCTGGACCA	0.562000														61			25		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230924019	230924019	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:230924019T>C	uc002vqd.2	-	1	509	c.50A>G	c.(49-51)aAa>aGa	p.K17R	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.K17R|SLC16A14_uc002vqf.3_Missense_Mutation_p.K17R	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	17						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CTTTTTGTCTTTGGGGCCATC	0.408000														69			5		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255810	15255810	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15255810C>T	uc001iob.3	-	7	1784	c.1777G>A	c.(1777-1779)Gac>Aac	p.D593N		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	593						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TAGGAGTGGTCCCCGGGGAGT	0.542000														63			59		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92999147	92999147	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:92999147C>T	uc022axs.1	-	7	1409	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	RUNX1T1_uc003yfc.2_Missense_Mutation_p.E322K|RUNX1T1_uc010mam.3_Missense_Mutation_p.E322K|RUNX1T1_uc003yfe.2_Missense_Mutation_p.E312K|RUNX1T1_uc003yfd.3_Missense_Mutation_p.E349K|RUNX1T1_uc022axo.1_Missense_Mutation_p.E349K|RUNX1T1_uc010mao.3_Missense_Mutation_p.E322K|RUNX1T1_uc011lgi.2_Missense_Mutation_p.E360K|RUNX1T1_uc022axp.1_Missense_Mutation_p.E349K|RUNX1T1_uc022axq.1_Missense_Mutation_p.E349K|RUNX1T1_uc022axr.1_Missense_Mutation_p.E349K|RUNX1T1_uc022axt.1_Missense_Mutation_p.E349K|RUNX1T1_uc022axu.1_Missense_Mutation_p.E329K|RUNX1T1_uc022axv.1_Missense_Mutation_p.E349K|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Missense_Mutation_p.E312K	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	349	Poly-Ser.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCTGCCCATTCTCTGTCTGTT	0.383000														113			43		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67629324	67629324	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:67629324G>A	uc002aqo.2	+	4	496	c.399G>A	c.(397-399)tcG>tcA	p.S133S	IQCH_uc010ujv.2_Intron|IQCH_uc002aqn.2_Intron|IQCH_uc002aqp.2_Intron|IQCH_uc002aqq.2_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	133										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TAAAGGTTTCGAAGTTAATCA	0.343000														74			45		0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36945041	36945041	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:36945041G>A	uc001caw.2	-	2	641	c.57C>T	c.(55-57)ctC>ctT	p.L19L	CSF3R_uc001cav.2_Silent_p.L19L|CSF3R_uc001cax.2_Silent_p.L19L	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	19					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CACTTCCGGGGAGCAGCAGGA	0.547000														50			20		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22157780	22157780	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22157780G>A	uc009vqd.3	-	83	11533	c.11493C>T	c.(11491-11493)atC>atT	p.I3831I	HSPG2_uc001bfi.3_5'Flank|HSPG2_uc001bfj.3_Silent_p.I3830I	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3830	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CATGGAAGACGATCTCCTCGC	0.677000														71			17		0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78471031	78471031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:78471031C>T	uc002bdh.3	-	10	1833	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	ACSBG1_uc010umx.2_Missense_Mutation_p.E301K|ACSBG1_uc010umw.2_Missense_Mutation_p.E539K	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	543					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						AGCCAGCCTTCCTCGTCGATG	0.627000														41			6		0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50455584	50455584	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50455584G>A	uc010ybh.2	-	8	1810	c.1719C>T	c.(1717-1719)ctC>ctT	p.L573L	SIGLEC11_uc010ybi.2_Silent_p.L477L	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	573					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AACAGAAAGCGAGCAGGGCAG	0.637000														107			32		0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64368270	64368270	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64368270C>T	uc001oam.1	+	8	2205	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V	SLC22A12_uc001oal.1_Silent_p.V265V|SLC22A12_uc009yps.1_Silent_p.V452V|SLC22A12_uc001oan.1_Silent_p.V378V|SLC22A12_uc009ypt.3_Silent_p.V304V	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	486					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GGCCTCTGGTCCGGCTGCTGG	0.657000														60			24		0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61735251	61735251	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61735251C>T	uc002jbg.3	+	4	684	c.365C>T	c.(364-366)tCc>tTc	p.S122F	MAP3K3_uc002jbe.3_Missense_Mutation_p.S153F|MAP3K3_uc002jbf.3_Missense_Mutation_p.S153F|MAP3K3_uc002jbh.3_Missense_Mutation_p.S153F|MAP3K3_uc010wpo.2_Missense_Mutation_p.S37F|MAP3K3_uc010wpp.2_Missense_Mutation_p.S122F	NM_002401	NP_002392	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA.	122	OPR.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						TTGCTGTTGTCCCAGGACAGA	0.438000														61			20		0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48800737	48800737	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:48800737C>T	uc002pir.2	-	13	2192	c.1509G>A	c.(1507-1509)aaG>aaA	p.K503K	CCDC114_uc002piq.2_Silent_p.K312K|CCDC114_uc002pio.3_Missense_Mutation_p.R564K	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	503										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CGGCCAGGTCCTTCTGGCGCT	0.736000														20			4		0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185698093	185698093	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:185698093G>A	uc003iww.2	-	5	816	c.522C>T	c.(520-522)atC>atT	p.I174I	ACSL1_uc011ckm.1_Silent_p.I3I|ACSL1_uc003iwt.1_Silent_p.I174I|ACSL1_uc003iwu.1_Silent_p.I174I|ACSL1_uc011ckn.1_Silent_p.I140I	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	174					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AAAGTGGAACGATCACCATCG	0.388000														46			4		0	0	1	0	0
LETM2	137994	broad.mit.edu	37	8	38258410	38258410	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:38258410C>T	uc003xlm.2	+	5	914	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	LETM2_uc011lbn.2_Missense_Mutation_p.R72C|LETM2_uc003xll.2_Missense_Mutation_p.R180C|LETM2_uc003xln.2_Missense_Mutation_p.R72C|LETM2_uc003xlo.2_Missense_Mutation_p.R72C	NM_001199659	NP_001186588	Q2VYF4	LETM2_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 2 (LETM2), transcript variant 1, mRNA.	275	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			GGAGATAGTTCGCTTCTCCAA	0.463000														107			61		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9258912	9258912	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:9258912C>T	uc001qvk.1	-	9	1137	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	A2M_uc009zgk.1_Missense_Mutation_p.E192K	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	342					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTTGTGATTTCACTGGACTGC	0.408000														66			41		0	0	1	0	0
OR2AE1	81392	broad.mit.edu	37	7	99473921	99473921	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99473921C>T	uc003usc.1	-	0	736	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGAGAAACCACCGTGAGGTGG	0.478000														85			38		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506507	11506507	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:11506507C>T	uc001qzw.1	-	3	564	c.527G>A	c.(526-528)gGa>gAa	p.G176E	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	177	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGAGG	0.602000														137			84		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767335	105767335	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:105767335C>T	uc004bbs.2	+	4	492	c.422C>T	c.(421-423)tCa>tTa	p.S141L		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	141	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				aaaaaagattcaaagaaaggc	0.353000														31			8		0	0	1	0	0
LEPREL4	10609	broad.mit.edu	37	17	39964117	39964117	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39964117G>A	uc002hxu.3	-	5	1523	c.1329C>T	c.(1327-1329)ccC>ccT	p.P443P	LEPREL4_uc002hxt.3_Silent_p.P352P	NM_006455	NP_006446	Q92791	SC65_HUMAN	Homo sapiens leprecan-like 4 (LEPREL4), mRNA.	352					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CCACCTCCCGGGGCTGGAAGT	0.597000														20			26		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152554067	152554067	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152554067G>A	uc021vrb.1	-	11	1277	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	NEB_uc002txu.3_Silent_p.F416F|NEB_uc021vrc.1_Silent_p.F416F|NEB_uc010fnx.3_Silent_p.F416F|NEB_uc021vrd.1_Silent_p.F416F|NEB_uc010fny.2_5'UTR	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	416					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATCACTACTGAAGTTCTGCA	0.343000														97			9		0	0	1	0	0
GPR22	2845	broad.mit.edu	37	7	107115332	107115332	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107115332G>A	uc003vef.3	+	2	2173	c.827G>A	c.(826-828)gGt>gAt	p.G276D	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron|GPR22_uc022ajv.1_Missense_Mutation_p.G276D	NM_005295	NP_005286	Q99680	GPR22_HUMAN	Homo sapiens G protein-coupled receptor 22 (GPR22), mRNA.	276						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						CAAAGCAGTGGTGGGAGAAAT	0.433000														69			26		0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438240	58438240	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58438240G>A	uc002qqs.1	-	3	1601	c.1309C>T	c.(1309-1311)Cga>Tga	p.R437*	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Nonsense_Mutation_p.R352*	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TTGCCCTTTCGACTAAAAGAT	0.468000														211			69		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140952615	140952615	+	Silent	SNP	C	T	T	rs35538393		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140952615C>T	uc004cog.3	+	27	4366	c.4221C>T	c.(4219-4221)ttC>ttT	p.F1407F	CACNA1B_uc022bqn.1_Silent_p.F1407F|CACNA1B_uc011mfd.2_Silent_p.F1008F|CACNA1B_uc004coi.3_Silent_p.F621F	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1407					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCTTCTTCTTCGTCAACATCT	0.537000														86			36		0	0	1	0	0
C11orf9	745	broad.mit.edu	37	11	61533631	61533631	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:61533631G>A	uc001nsc.1	+	2	432	c.336G>A	c.(334-336)aaG>aaA	p.K112K	C11orf9_uc001nse.1_Silent_p.K103K	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	112	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P111T(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						CTGCCCCCAAGCCCTTCCCGG	0.701000														45			19		0	0	1	0	0
LOC650623	650623	broad.mit.edu	37	10	81443974	81443974	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81443974G>A	uc010qlu.2	+	0		c.1244G>A								Homo sapiens BEN domain containing 3 pseudogene (LOC650623), non-coding RNA.																		CTACGGGGACGGCGGCAAGCA	0.632000														6			4		0	0	1	0	0
EIF2C1	26523	broad.mit.edu	37	1	36358229	36358229	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:36358229G>A	uc001bzl.3	+	2	494	c.281G>A	c.(280-282)gGa>gAa	p.G94E	EIF2C1_uc001bzk.3_Missense_Mutation_p.G19E|EIF2C1_uc009vuy.3_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	94					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGTATGATGGAAAGAAGAAC	0.527000														60			32		0	0	1	0	0
KIAA1328	57536	broad.mit.edu	37	18	34740344	34740344	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:34740344G>A	uc002kzz.3	+	8	1436	c.1414_splice	c.e8+1	p.G472_splice	KIAA1328_uc002lab.3_Splice_Site_p.G224_splice|KIAA1328_uc002lac.1_Splice_Site_p.G331_splice	NM_020776	NP_065827	Q86T90	K1328_HUMAN	Homo sapiens KIAA1328 (KIAA1328), mRNA.	472										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		ACCCCAAAGAGGTAAGTTTAA	0.408000														39			11		0	0	1	0	0
KIF12	113220	broad.mit.edu	37	9	116858707	116858707	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116858707C>T	uc004bif.3	-	4	522	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	228	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GGCATGGCTTCGGCTGGAGGC	0.582000														11			6		0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156269057	156269057	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:156269057C>T	uc003ios.3	-	14	2086	c.1822_splice	c.e14-1	p.E608_splice	MAP9_uc011cin.2_Splice_Site_p.E583_splice	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	608					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TCCTTATTTTCCTAAAGAGAA	0.328000														7			3		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61028352	61028352	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61028352C>T	uc010qif.1	-	7	1035	c.969G>A	c.(967-969)cgG>cgA	p.R323R	FAM13C_uc010qid.2_Silent_p.R218R|FAM13C_uc001jkn.3_Silent_p.R301R|FAM13C_uc001jko.3_Silent_p.R301R|FAM13C_uc010qie.2_Silent_p.R218R|FAM13C_uc001jkp.3_Silent_p.R218R	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	301										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTCAAATTTCCGAATTTTCC	0.507000														49			23		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7526061	7526061	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7526061G>A	uc010sge.2	-	13	3641	c.3615C>T	c.(3613-3615)gcC>gcT	p.A1205A	CD163L1_uc001qsy.3_Silent_p.A1195A	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1195	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TAGATAAAGGGGCGAGGCTGA	0.567000														133			16		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42378415	42378415	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42378415G>A	uc001zox.3	-	3	478	c.383C>T	c.(382-384)cCc>cTc	p.P128L		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	128					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		ACCCACCTGGGGACTCTGGGA	0.577000														4			3		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176011643	176011643	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176011643G>A	uc021yie.1	+	18	2635	c.2361G>A	c.(2359-2361)ggG>ggA	p.G787G	CDHR2_uc003mem.2_Silent_p.G787G|CDHR2_uc003men.1_Silent_p.G787G	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	787	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACCCCCAGGGGGGTGAGACCA	0.602000														125			13		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169362547	169362547	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169362547G>A	uc021xuh.1	-	8	1345	c.1235C>T	c.(1234-1236)tCt>tTt	p.S412F	DDX60L_uc003irq.4_Missense_Mutation_p.S412F|DDX60L_uc003irr.1_Missense_Mutation_p.S412F|DDX60L_uc003irs.1_Missense_Mutation_p.S139F	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	412							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CAGAGGAAAAGACTTTCCAAC	0.373000														95			20		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159646591	159646591	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:159646591G>A	uc010kjv.3	+	7	1109	c.909G>A	c.(907-909)gaG>gaA	p.E303E	FNDC1_uc010kjw.1_Silent_p.E251E	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	303	Fibronectin type-III 3.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCTATCGAGAGAAGGGGGAAT	0.468000														91			58		0	0	1	0	0
AXIN2	8313	broad.mit.edu	37	17	63533730	63533730	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:63533730G>A	uc002jfi.3	-	5	1713	c.1424C>T	c.(1423-1425)tCg>tTg	p.S475L	AXIN2_uc002jfh.3_Missense_Mutation_p.S475L	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	475	Interaction with beta-catenin (By similarity).				Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GTGGTACTGCGAATGGTGGTG	0.711000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome					12			3		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56380414	56380414	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:56380414G>A	uc003pcy.4	-	52	10649	c.10541C>T	c.(10540-10542)tCa>tTa	p.S3514L		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5926					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATACCTTTCTGAATTAATCTG	0.418000														35			5		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21136525	21136525	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21136525C>T	uc010vbe.2	-	8	1375	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N	DNAH3_uc002die.2_Missense_Mutation_p.D430N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	459	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAAACGAGGTCCTCAAGTGAC	0.453000														88			14		0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135369385	135369385	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:135369385C>T	uc001lno.2	-	9	723	c.618G>A	c.(616-618)ctG>ctA	p.L206L	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Silent_p.L78L|SYCE1_uc009ybn.2_Silent_p.L206L|SYCE1_uc001lnn.2_Silent_p.L170L	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	206					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCACGTCTTCCAGTGTCGCCT	0.607000														30			17		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216172336	216172336	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:216172336T>C	uc001hku.1	-	33	6937	c.6550A>G	c.(6550-6552)Aca>Gca	p.T2184A		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2184	Fibronectin type-III 8.				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)		AAATCATGTGTATGGTTTGAC	0.318000										HNSCC(13;0.011)				89			29		0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88387520	88387520	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:88387520G>A	uc002ssr.3	+	2	539	c.454G>A	c.(454-456)Gac>Aac	p.D152N	SMYD1_uc002ssq.2_Intron	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	152	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGTGGACGTGGACACATTCTT	0.622000														61			18		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411681	23411681	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:23411681C>T	uc004dal.4	+	2	2054	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	682					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TCATCGTCTTCAATCCGTCCT	0.493000														19			37		0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36524562	36524562	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36524562C>T	uc003cgh.1	+	2	506	c.467C>T	c.(466-468)cCc>cTc	p.P156L	STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Intron	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	156					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GGCCTGGCACCCCAGCGGTGC	0.572000														57			9		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080123	54080123	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54080123G>A	uc002qbx.1	+	6	1743	c.309G>A	c.(307-309)atG>atA	p.M103I	ZNF331_uc002qby.1_Missense_Mutation_p.M103I|ZNF331_uc002qbz.1_Missense_Mutation_p.M103I|ZNF331_uc010eqr.1_Missense_Mutation_p.M103I|ZNF331_uc002qca.1_Missense_Mutation_p.M103I|ZNF331_uc021uzg.1_Missense_Mutation_p.M103I|ZNF331_uc021uzh.1_Missense_Mutation_p.M103I|ZNF331_uc002qcb.1_Missense_Mutation_p.M103I|ZNF331_uc002qcc.1_Missense_Mutation_p.M103I|ZNF331_uc002qcd.1_Missense_Mutation_p.M103I	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TCAATCAGATGATCATCAATT	0.438000			T	?	follicular thyroid adenoma									69			25		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247582117	247582117	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247582117C>T	uc001icr.3	+	2	159	c.21C>T	c.(19-21)cgC>cgT	p.R7R	NLRP3_uc001ics.3_Silent_p.R7R|NLRP3_uc001icu.3_Silent_p.R7R|NLRP3_uc001icw.3_Silent_p.R7R|NLRP3_uc001icv.3_Silent_p.R7R|NLRP3_uc010pyw.2_Silent_p.R5R|NLRP3_uc001ict.1_Silent_p.R5R	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	7	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAAGCACCCGCTGCAAGCTGG	0.537000														44			13		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887946	9887946	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:9887946C>T	uc002koi.4	+	1	1919	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	TXNDC2_uc002koh.4_Silent_p.F423F|TXNDC2_uc021ugx.1_Silent_p.F423F	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	490	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GACCATTCTTCCATGCCCTGT	0.587000														38			8		0	0	1	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927586	92927586	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:92927586C>T	uc004efq.3	-	0	1097	c.718G>A	c.(718-720)Gac>Aac	p.D240N	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	240	Glu-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCCATACAGTCTTTAGAATCT	0.418000														43			67		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926512	157926512	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:157926512C>T	uc003wno.3	-	8	1534	c.1413G>A	c.(1411-1413)ggG>ggA	p.G471G	PTPRN2_uc003wnp.3_Silent_p.G454G|PTPRN2_uc003wnq.3_Silent_p.G471G|PTPRN2_uc003wnr.3_Silent_p.G433G|PTPRN2_uc011kwa.2_Silent_p.G494G	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	471						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TTTGGAGCTCCCCAAACGCAG	0.637000														71			25		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8176468	8176468	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:8176468G>A	uc003wsh.4	-	4	3417	c.3417C>T	c.(3415-3417)atC>atT	p.I1139I		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1139	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										CCCGGTGGATGATCCCGTGCT	0.741000														160			14		0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59971154	59971154	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:59971154G>A	uc002izn.3	-	12	1770	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F	INTS2_uc002izm.3_Missense_Mutation_p.S557F	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	565					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.R564C(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CTTGGTAAAGGAACGGCTCCT	0.378000														12			6		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161747	57161747	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57161747G>A	uc001cyk.4	+	5	774	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	235	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TTATATCCCAGAATATCTCAA	0.418000														264			115		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96014663	96014663	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96014663C>T	uc001kjk.3	+	10	4045	c.3411C>T	c.(3409-3411)atC>atT	p.I1137I	PLCE1_uc010qnx.2_Silent_p.I1137I|PLCE1_uc001kjm.3_Silent_p.I829I	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1137					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGAATGCCATCGCTAACCCTC	0.522000														255			109		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15053254	15053254	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15053254C>T	uc010xoc.2	+	0	954	c.954C>T	c.(952-954)ctC>ctT	p.L318L		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TTGCTAAGCTCTCATGAATTG	0.478000														52			28		0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77425034	77425034	+	Missense_Mutation	SNP	G	A	A	rs148023800	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:77425034G>A	uc003kfj.3	-	15	1873	c.1748C>T	c.(1747-1749)cCg>cTg	p.P583L		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	583					endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CTTTACATTCGGAACAATAAG	0.368000									Hermansky-Pudlak syndrome					62			20		0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51448530	51448530	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:51448530G>A	uc001wyx.4	-	7	2660	c.1895C>T	c.(1894-1896)tCg>tTg	p.S632L	TRIM9_uc001wyy.2_Missense_Mutation_p.S713L	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	632	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GTTGGTGTGCGAGTTGTTGTG	0.498000														119			45		0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219423367	219423367	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219423367G>A	uc010fvs.1	-	3	423	c.10C>T	c.(10-12)Ctg>Ttg	p.L4L	USP37_uc002vie.2_Silent_p.L4L|USP37_uc010zkf.1_Silent_p.L4L|USP37_uc002vif.2_Silent_p.L4L|USP37_uc002vig.2_Intron|USP37_uc010zkg.2_Silent_p.L4L	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	4					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TGTATCTTCAGAGGAGACATA	0.323000														113			50		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83817025	83817025	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:83817025C>T	uc010vns.2	+	13	2487	c.2223C>T	c.(2221-2223)gcC>gcT	p.A741A	CDH13_uc002fgx.3_Silent_p.A694A|CDH13_uc010vnt.2_Silent_p.A440A|CDH13_uc010vnu.2_Silent_p.A655A	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	694					Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CGGCAGGGGCCCTGCGCTTCA	0.517000														68			7		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003386	75003386	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:75003386C>T	uc004ecj.2	-	0	1694	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	501	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCCACAGCCTCCCTATATTGT	0.488000														16			30		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16816494	16816494	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:16816494C>T	uc010rcu.1	-	17	2496	c.2481G>A	c.(2479-2481)gaG>gaA	p.E827E	PLEKHA7_uc001mmo.3_Silent_p.E827E|PLEKHA7_uc010rcv.2_Silent_p.E401E|PLEKHA7_uc001mmn.3_Silent_p.E535E	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	827					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TTCTGAAGTTCTCTTTATTTG	0.483000														171			73		0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70620411	70620411	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:70620411G>A	uc003hen.3	-	2	552	c.254C>T	c.(253-255)aCt>aTt	p.T85I		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	85					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TCCAGGGAGAGTCATTTCCAA	0.303000														133			46		0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148927953	148927953	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:148927953C>T	uc003ewy.4	-	3	860	c.607_splice	c.e3+1	p.D203_splice	CP_uc011bnr.2_Splice_Site|CP_uc003ewx.4_5'Flank|CP_uc003ewz.3_Splice_Site_p.D203_splice|CP_uc010hvf.1_5'Flank	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	203	F5/8 type A 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGAAGATGTACCTTTTTTACA	0.403000														68			27		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12315809	12315809	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:12315809C>T	uc001mkg.1	+	2	1122	c.831C>T	c.(829-831)atC>atT	p.I277I		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	277					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CCAATGCCATCCGAAGGTCTC	0.607000														56			20		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058360	9058360	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9058360C>T	uc002mkp.3	-	2	29290	c.29086G>A	c.(29086-29088)Gga>Aga	p.G9696R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9698	Ser-rich.|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						TGTGAAAGTCCTTGAGACATA	0.493000														54			17		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27997849	27997849	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:27997849C>T	uc004dbx.1	-	0	1718	c.1603G>A	c.(1603-1605)Gac>Aac	p.D535N		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	535										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TTCAAGTTGTCTTCATCTCGC	0.483000														23			43		0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123754798	123754798	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123754798G>A	uc001pzi.3	-	2	655	c.447C>T	c.(445-447)ttC>ttT	p.F149F		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	149						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						CAGACAAGAAGAAAACATTTA	0.433000														91			16		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32975413	32975413	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:32975413C>T	uc001rlj.4	-	8	2074	c.1959G>A	c.(1957-1959)agG>agA	p.R653R	PKP2_uc001rlk.4_Silent_p.R609R|PKP2_uc010skj.2_Silent_p.R609R	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	653					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTTTTACTTTCCTGCTTCGAC	0.378000														68			15		0	0	1	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29956781	29956781	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:29956781C>T	uc003afx.4	-	7	903	c.648G>A	c.(646-648)gaG>gaA	p.E216E	NIPSNAP1_uc011akp.2_Silent_p.E196E	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	Homo sapiens nipsnap homolog 1 (C. elegans) (NIPSNAP1), transcript variant 1, mRNA.	216								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						CGCCCACTGCCTCCTGGTTCT	0.557000														128			51		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361655	107361655	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107361655G>A	uc011lvp.2	-	0	40	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AGTCCCTTCAGAAAAAATTCC	0.383000														91			24		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1217051	1217051	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1217051C>T	uc003jbw.4	+	7	1220	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	388					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCAACGCCTTCCTCTCAGAGG	0.662000														86			41		0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3486680	3486680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3486680G>A	uc002cvd.3	-	3	1203	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	Homo sapiens zinc finger protein 597 (ZNF597), mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						acactgtaagggcttgaattt	0.463000														17			11		0	0	1	0	0
DDB2	1643	broad.mit.edu	37	11	47256923	47256923	+	Missense_Mutation	SNP	C	T	T	rs145822896		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:47256923C>T	uc001neb.2	+	6	1178	c.983C>T	c.(982-984)cCg>cTg	p.P328L	DDB2_uc001nec.2_Non-coding_Transcript|DDB2_uc009yli.1_Missense_Mutation_p.P264L|DDB2_uc001ned.2_Non-coding_Transcript|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron	NM_000107	NP_000098	Q92466	DDB2_HUMAN	Homo sapiens damage-specific DNA binding protein 2, 48kDa (DDB2), mRNA.	328					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GGCCTGATCCCGCACCCTCAC	0.622000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum					35			23		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41019027	41019027	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41019027C>T	uc003jmj.4	-	24	3025	c.2535G>A	c.(2533-2535)ctG>ctA	p.L845L	HEATR7B2_uc003jmi.4_Silent_p.L400L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	845							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						CTTCACTTTTCAGATTTTCCA	0.473000														30			13		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42554560	42554560	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:42554560C>T	uc003gwr.2	-	16	1713	c.1481G>A	c.(1480-1482)cGa>cAa	p.R494Q	ATP8A1_uc003gws.2_Missense_Mutation_p.R479Q|ATP8A1_uc011byz.1_Missense_Mutation_p.R479Q	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	494					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTCACCTTCTCGCTCTGGCAC	0.363000														75			31		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2020459	2020459	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2020459C>T	uc003wpx.4	+	8	966	c.828C>T	c.(826-828)ttC>ttT	p.F276F	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	276	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACACGCACTTCGACGTCCAGT	0.567000														57			8		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920274	4920274	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4920274C>T	uc001qng.3	+	0	1933	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	KCNA6_uc021qtr.1_Missense_Mutation_p.S356F	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	356						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TTCAAGCTCTCCCGCCACTCC	0.637000										HNSCC(72;0.22)				27			7		0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10434093	10434094	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10434093_10434094GG>AA	uc002moa.3	-	3	1036_1037	c.956_957CC>TT	c.(955-957)ccc>cTT	p.P319L		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	302	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TACTGCGGCCGGGGGGCCCAGG	0.713000														20			4		0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113815359	113815359	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113815359C>T	uc001pok.3	+	7	1110	c.972C>T	c.(970-972)gtC>gtT	p.V324V	HTR3B_uc001pol.3_Silent_p.V313V	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	324					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TCGTGTTGGTCAAATTCCTCC	0.562000														83			10		0	0	1	0	0
RHOV	171177	broad.mit.edu	37	15	41165381	41165381	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:41165381C>T	uc001znd.3	-	2	736	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_133639	NP_598378	Q96L33	RHOV_HUMAN	Homo sapiens ras homolog gene family, member V (RHOV), mRNA.	196					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TCAAATACTTCCTTCAAGTTC	0.592000														85			39		0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35469468	35469468	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:35469468C>T	uc021wir.1	+	0	1971	c.1971C>T	c.(1969-1971)ttC>ttT	p.F657F	SLC5A3_uc002yto.3_Silent_p.F657F|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	657						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ACTGGAAGTTCATAGACTGGT	0.463000														135			11		0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118751	194118751	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:194118751G>A	uc003ftv.1	-	1	292	c.261C>T	c.(259-261)tcC>tcT	p.S87S	GP5_uc021xiz.1_Silent_p.S87S	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	87					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGGCAACGGCGGAAATGTGGC	0.587000														62			41		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452406	138452406	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:138452406C>T	uc003ihe.4	-	0	1224	c.837G>A	c.(835-837)ggG>ggA	p.G279G	PCDH18_uc003ihf.4_Silent_p.G272G|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.G59G|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	279	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATACAATTTTCCCATTAGCGC	0.398000														79			27		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265703	10265703	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10265703C>T	uc002gmk.1	-	3	412	c.322G>A	c.(322-324)Gag>Aag	p.E108K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	108	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCATAGCGCTCTTTGAGGTTG	0.443000														81			60		0	0	1	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45971094	45971094	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45971094G>A	uc002zfi.1	-	0	295	c.248C>T	c.(247-249)tCt>tTt	p.S83F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	83	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						CTGGCAGCTAGACTGCTGGCA	0.692000														149			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179666989	179666989	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179666989G>A	uc021vsy.1	-	2	396	c.171C>T	c.(169-171)tcC>tcT	p.S57S	TTN_uc021vsz.1_Silent_p.S57S|TTN_uc021vta.1_Silent_p.S57S|TTN_uc021vtb.1_Silent_p.S57S|TTN_uc002unb.2_Silent_p.S57S|TTN_uc002und.3_Silent_p.S57S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	57	Ig-like 1.						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)			CATCGCTAAAGGAGATCTGCA	0.527000														61			23		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805108	54805108	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:54805108C>T	uc003pck.3	+	4	1455	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	447										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTTTGCCAATCGGCTTGCGCA	0.458000														58			13		0	0	1	0	0
ZNF200	7752	broad.mit.edu	37	16	3274511	3274511	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3274511G>A	uc002cuj.2	-	4	1201	c.569C>T	c.(568-570)tCc>tTc	p.S190F	ZNF200_uc002cum.3_Missense_Mutation_p.S189F|ZNF200_uc002cuk.2_Missense_Mutation_p.S190F|ZNF200_uc010bti.2_Missense_Mutation_p.S189F|ZNF200_uc002cui.2_Missense_Mutation_p.S189F|ZNF200_uc002cul.3_Missense_Mutation_p.S189F	NM_003454	NP_932354	P98182	ZN200_HUMAN	Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						AGAGACCAAGGAAGAATCCAT	0.398000														60			33		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71163622	71163622	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71163622C>T	uc002ezr.3	-	8	1299	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	HYDIN_uc010cfz.2_Missense_Mutation_p.R128Q|HYDIN_uc021tkq.1_Missense_Mutation_p.R383Q|HYDIN_uc010vmc.2_Missense_Mutation_p.R400Q|HYDIN_uc010vmd.2_Missense_Mutation_p.R410Q|HYDIN_uc002ezw.4_Missense_Mutation_p.R400Q	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	383										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)				CGCAAAGGTTCGGGACAGAAC	0.443000														31			15		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140801196	140801196	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140801196C>T	uc003lkq.2	+	0	660	c.402C>T	c.(400-402)ttC>ttT	p.F134F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Silent_p.F134F|PCDHGC5_uc003lkp.2_Silent_p.F134F	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	133	Cadherin 2.				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)			CCCCCAGCTTCCAGGAGGACG	0.473000														19			7		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107748257	107748257	+	Missense_Mutation	SNP	C	T	T	rs147178647		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107748257C>T	uc010ljo.1	-	5	494	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	LAMB4_uc003vey.2_Missense_Mutation_p.R137Q	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	137	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGCAGCAGGCCGAAAAGTCTA	0.348000														40			21		0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10395216	10395216	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10395216C>T	uc002mnq.2	+	4	1382	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*	ICAM1_uc010xle.1_Nonsense_Mutation_p.Q133*|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	355	Ig-like C2-type 4.				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CCCGAGGGCCCAGCTCCTGCT	0.642000														95			12		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56544947	56544947	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56544947C>T	uc002qmj.3	+	8	2487	c.2487C>T	c.(2485-2487)ctC>ctT	p.L829L	NLRP5_uc002qmi.3_Silent_p.L810L	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	829						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGCAGCACCTCTGGAGAATCG	0.488000														131			65		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115238117	115238117	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:115238117G>A	uc001efe.2	-	0	123	c.75C>T	c.(73-75)atC>atT	p.I25I	AMPD1_uc001eff.2_Silent_p.I25I	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	0					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)	Adenosine monophosphate(DB00131)	TTGATTCTAGGATAGCACAGT	0.388000														141			39		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329580	152329580	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152329580C>T	uc001ezw.4	-	2	755	c.682G>A	c.(682-684)Gga>Aga	p.G228R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	228	Ser-rich.						calcium ion binding|structural molecule activity	p.S227S(1)		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)			CTGTTTGATCCAGATCCAGAT	0.438000														234			80		0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35551382	35551382	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35551382G>A	uc002nxq.2	+	8	831	c.586G>A	c.(586-588)Gac>Aac	p.D196N	HPN_uc002nxr.2_Missense_Mutation_p.D196N|HPN_uc010xsh.1_Missense_Mutation_p.D165N|HPN_uc002nxt.1_Missense_Mutation_p.D80N|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	196	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	p.D196Y(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GCTCTCCGGGGACTGGGTGCT	0.672000														95			37		0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711904	20711904	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20711904G>A	uc010tld.2	+	0	954	c.954G>A	c.(952-954)atG>atA	p.M318I		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TGTTTGGAATGAGAATTCGTC	0.393000														54			27		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813752	123813752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123813752G>A	uc010sab.2	-	0	794	c.794C>T	c.(793-795)gCt>gTt	p.A265V		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTTGGACTGAGCCTCTGACAT	0.507000														139			43		0	0	1	0	0
FAM55C	91775	broad.mit.edu	37	3	101540472	101540472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:101540472C>T	uc003dvn.3	+	7	1991	c.1354C>T	c.(1354-1356)Cct>Tct	p.P452S	FAM55C_uc010hpn.3_Missense_Mutation_p.P452S	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	452						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						CAGCACCTTCCCTTTGGAAGT	0.547000														58			20		0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80626663	80626663	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:80626663G>A	uc003khl.4	-	13	1543	c.1488C>T	c.(1486-1488)ctC>ctT	p.L496L	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	496	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TAGCATGGATGAGAAATCCGG	0.433000														69			6		0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150530026	150530026	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:150530026G>A	uc009wlw.3	+	12	2331	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K	ADAMTSL4_uc001euw.3_Missense_Mutation_p.E702K|ADAMTSL4_uc001eux.3_Missense_Mutation_p.E702K|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.E663K|ADAMTSL4_uc009wlx.3_5'Flank	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	702	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGAACTGGATGAACGCAGCTG	0.672000														8			5		0	0	1	0	0
C20orf118	140711	broad.mit.edu	37	20	35507460	35507460	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:35507460C>T	uc002xgg.1	+	2	214	c.206C>T	c.(205-207)cCa>cTa	p.P69L	C20orf118_uc021wcz.1_Missense_Mutation_p.P69L	NM_080628	NP_542195	A0PJX2	CT118_HUMAN	Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA.	69								p.F68C(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	9		Myeloproliferative disorder(115;0.00874)				TTTCACTTCCCACCAAGAGTC	0.622000														177			61		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432595	104432595	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104432595G>A	uc004bbp.2	-	2	2700	c.2099C>T	c.(2098-2100)cCa>cTa	p.P700L	GRIN3A_uc004bbq.1_Missense_Mutation_p.P700L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	700					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CAAACCAAATGGACTCTTCCA	0.493000														135			11		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43926898	43926898	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43926898G>A	uc002xnn.2	-	6	1525	c.1338C>T	c.(1336-1338)gcC>gcT	p.A446A	MATN4_uc002xnp.2_Silent_p.A364A|MATN4_uc002xno.2_Silent_p.A405A|MATN4_uc010zwr.1_Silent_p.A394A|MATN4_uc002xnr.1_Silent_p.A446A	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	487	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GCACGTTAAGGGCACGGGGCC	0.662000														68			38		0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120188070	120188070	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:120188070C>T	uc021qrk.1	+	11	1308	c.1274C>T	c.(1273-1275)tCa>tTa	p.S425L	POU2F3_uc001pxc.3_Missense_Mutation_p.S423L|POU2F3_uc010rzk.2_Missense_Mutation_p.S377L|POU2F3_uc010rzl.2_Missense_Mutation_p.S353L|POU2F3_uc001pxe.1_Missense_Mutation_p.S208L	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	423	Ser-rich.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TTTAACTCTTCAGGGTAAGGT	0.532000														78			28		0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104239033	104239033	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104239033G>A	uc004bbm.3	-	1	664	c.342C>T	c.(340-342)ggC>ggT	p.G114G	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.G114G	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	114						integral to membrane											CGTAGTGGAAGCCAGGCTGCC	0.622000														54			5		0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66611005	66611005	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:66611005G>A	uc001sth.3	+	5	745	c.643G>A	c.(643-645)Gtt>Att	p.V215I	IRAK3_uc010ssy.2_Missense_Mutation_p.V154I	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	215	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TGAGCTTGAAGTTTTACTACT	0.363000														658			167		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11835445	11835445	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11835445C>T	uc002gne.3	+	63	12288	c.12220C>T	c.(12220-12222)Cgc>Tgc	p.R4074C	DNAH9_uc010coo.3_Missense_Mutation_p.R3292C|DNAH9_uc002gnf.3_Missense_Mutation_p.R386C	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4074	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGATGGAATCGCTCATACCC	0.502000														63			49		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826247	43826247	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:43826247C>T	uc010skx.2	-	20	2956	c.2956G>A	c.(2956-2958)Gaa>Aaa	p.E986K	ADAMTS20_uc001rno.1_Missense_Mutation_p.E140K|ADAMTS20_uc001rnp.1_Missense_Mutation_p.E140K	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	986	TSP type-1 4.					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)		CGAGACCTTTCCCCTCCTCCA	0.368000														83			17		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72190375	72190375	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:72190375C>T	uc001xms.3	+	15	4644	c.4283C>T	c.(4282-4284)tCc>tTc	p.S1428F	SIPA1L1_uc001xmt.3_Missense_Mutation_p.S1407F|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S1407F|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S1428F|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S882F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1428	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACCATGAGCTCCCGACACTCT	0.547000														78			27		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169656259	169656259	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:169656259C>T	uc003fgd.3	+	8	1573	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	SAMD7_uc003fge.3_Missense_Mutation_p.P436S|SAMD7_uc011bpo.2_Missense_Mutation_p.P337S	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	436										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TACAATAATTCCTAAAGGAAT	0.398000														32			9		0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172628472	172628472	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:172628472G>A	uc001gis.3	+	0	288	c.131G>A	c.(130-132)aGg>aAg	p.R44K	FASLG_uc001git.3_Missense_Mutation_p.R44K	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	44	Pro-rich.				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GGTCAAAGGAGGccaccacca	0.657000														20			10		0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54605263	54605263	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:54605263C>T	uc001cwv.1	-	3	2128	c.1280G>A	c.(1279-1281)gGa>gAa	p.G427E		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	427						extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						TCTTAGGGGTCCCGAGAGTGG	0.582000														31			16		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45810908	45810908	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45810908G>A	uc010gpt.1	+	10	1540	c.1440_splice	c.e10+1	p.K480_splice	TRPM2_uc002zet.1_Splice_Site_p.K480_splice|TRPM2_uc002zeu.1_Splice_Site_p.K480_splice|TRPM2_uc021wjr.1_Splice_Site|TRPM2_uc002zew.1_Splice_Site_p.K480_splice|TRPM2_uc002zex.1_Splice_Site_p.K266_splice|TRPM2_uc002zey.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	480						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGCAGTGGAAGGTAAGTCTTC	0.577000														64			21		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72975151	72975151	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:72975151C>T	uc003pga.3	+	20	3330	c.3253C>T	c.(3253-3255)Cat>Tat	p.H1085Y	RIMS1_uc011dyb.2_Intron|RIMS1_uc003pgc.3_Intron|RIMS1_uc010kaq.3_Intron|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Intron|RIMS1_uc011dyd.2_Intron|RIMS1_uc003pge.3_Intron|RIMS1_uc003pgf.3_Intron|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Intron|RIMS1_uc011dye.2_Intron|RIMS1_uc011dyf.2_Intron|RIMS1_uc010kas.1_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1085					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.H1085N(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CATTTCCCTTCATCATGAATG	0.323000														46			5		0	0	1	0	0
GPA33	10223	broad.mit.edu	37	1	167032894	167032894	+	Missense_Mutation	SNP	C	T	T	rs145965350		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167032894C>T	uc001gea.1	-	3	840	c.496G>A	c.(496-498)Gag>Aag	p.E166K		NM_005814	NP_005805	Q99795	GPA33_HUMAN	Homo sapiens glycoprotein A33 (transmembrane) (GPA33), mRNA.	166	Ig-like C2-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGTGAGCCCTCCTTTGATTGG	0.562000														103			33		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354218	57354218	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:57354218G>A	uc003xsz.2	-	1	498	c.417C>T	c.(415-417)ttC>ttT	p.F139F	PENK_uc003xta.3_Silent_p.F139F	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	139					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCTTCTTCATGAAGCCCCCAT	0.532000														105			21		0	0	1	0	0
C17orf59	54785	broad.mit.edu	37	17	8092541	8092541	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:8092541G>A	uc010vut.2	-	0	1024	c.918C>T	c.(916-918)tcC>tcT	p.S306S		NM_017622	NP_060092	Q96GS4	CQ059_HUMAN	Homo sapiens chromosome 17 open reading frame 59 (C17orf59), mRNA.	306										large_intestine(2)|lung(3)|urinary_tract(1)	6						CTTCACCTAAGGAGTCCACAG	0.677000														51			23		0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21992598	21992598	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:21992598G>A	uc002nqj.3	-	3	371	c.241C>T	c.(241-243)Cat>Tat	p.H81Y	ZNF43_uc002nql.3_Missense_Mutation_p.H75Y|ZNF43_uc002nqm.3_Missense_Mutation_p.H75Y|ZNF43_uc010ecv.3_Missense_Mutation_p.H75Y|ZNF43_uc002nqk.3_Missense_Mutation_p.H11Y	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGGGTAAAATGAGAACACATA	0.294000														90			13		0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36952410	36952410	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36952410G>A	uc002xib.2	+	7	969	c.907G>A	c.(907-909)Gag>Aag	p.E303K		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	303					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TGTATACCAAGAGGCTGGGGT	0.562000														43			11		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46633526	46633526	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:46633526C>T	uc009zkj.1	-	2	743	c.58G>A	c.(58-60)Gag>Aag	p.E20K	SLC38A1_uc001rpb.3_Missense_Mutation_p.E20K|SLC38A1_uc001rpc.3_Missense_Mutation_p.E20K|SLC38A1_uc001rpd.3_Missense_Mutation_p.E20K|SLC38A1_uc001rpe.3_Missense_Mutation_p.E20K|SLC38A1_uc010slh.2_Intron|SLC38A1_uc001rpa.3_Missense_Mutation_p.E20K	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	20					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTATCATCCTCGGGCACTGTC	0.353000														104			29		0	0	1	0	0
CCBP2	1238	broad.mit.edu	37	3	42906678	42906678	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42906678C>T	uc003cme.3	+	2	862	c.684C>T	c.(682-684)ttC>ttT	p.F228F	CCBP2_uc003cmf.3_Silent_p.F228F|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.F228F	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	228					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCATGATCTTCTTCTACTCCC	0.572000														164			84		0	0	1	0	0
CCDC83	220047	broad.mit.edu	37	11	85627240	85627240	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:85627240G>A	uc001pbg.1	+	10	1649	c.1137G>A	c.(1135-1137)atG>atA	p.M379I	CCDC83_uc001pbh.1_Missense_Mutation_p.M348I|CCDC83_uc001pbj.1_Missense_Mutation_p.M248I|CCDC83_uc001pbi.1_Non-coding_Transcript	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA.	348										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ACACTGATATGAAGTACTTAC	0.348000														112			63		0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606647	55606647	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55606647G>A	uc010rio.2	+	0	420	c.420G>A	c.(418-420)caG>caA	p.Q140Q		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S139Y(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCATCTCCCAGAAACTCTGTG	0.463000														80			39		0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29194715	29194715	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:29194715G>A	uc003xhm.3	-	3	1485	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	DUSP4_uc003xhl.3_Missense_Mutation_p.S247F	NM_001394	NP_001385	Q13115	DUS4_HUMAN	Homo sapiens dual specificity phosphatase 4 (DUSP4), transcript variant 1, mRNA.	338	Tyrosine-protein phosphatase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|endoderm formation|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CGCAGCACAGGACGTGGCCAG	0.662000														26			9		0	0	1	0	0
ABHD5	51099	broad.mit.edu	37	3	43756497	43756497	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:43756497C>T	uc003cmx.3	+	4	830	c.720C>T	c.(718-720)ttC>ttT	p.F240F		NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN	Homo sapiens abhydrolase domain containing 5 (ABHD5), mRNA.	240					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		CTTCAATGTTCGAAGACGATA	0.368000														192			17		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666412	34666412	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34666412G>A	uc001bxt.3	+	2	1887	c.1049G>A	c.(1048-1050)gGg>gAg	p.G350E	C1orf94_uc001bxs.4_Missense_Mutation_p.G160E	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	160							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AAGGGTCAAGGGAGCCTCTTT	0.597000														89			40		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263531	140263531	+	Missense_Mutation	SNP	G	A	A	rs139225969	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140263531G>A	uc003lif.2	+	0	1678	c.1678G>A	c.(1678-1680)Gac>Aac	p.D560N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.D560N|PCDHAC2_uc003lid.3_Missense_Mutation_p.D560N	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	574	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGAGAACGACAACGCTCC	0.697000														114			47		0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84025043	84025043	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:84025043C>T	uc003pjy.3	-	5	955	c.690G>A	c.(688-690)gaG>gaA	p.E230E	ME1_uc011dzb.2_Silent_p.E155E|ME1_uc011dzc.2_Silent_p.E64E	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	230					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AAGAAACTGCCTCCATGAATT	0.308000														67			34		0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813326	248813326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248813326G>A	uc010pzo.2	-	0	860	c.860C>T	c.(859-861)cCa>cTa	p.P287L		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTAAATGAGTGGATTGAGCAT	0.493000														69			20		0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437455	125437455	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125437455G>A	uc011lzb.2	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						ATTCTCTTGGGACTCTCCTCT	0.423000														118			37		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088430	9088430	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9088430G>A	uc002mkp.3	-	0	3589	c.3385C>T	c.(3385-3387)Ctg>Ttg	p.L1129L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1129	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						TGTGGAGTCAGAGCTGAGCTT	0.458000														55			20		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81654595	81654595	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:81654595G>A	uc021ssk.1	-	3	360	c.360C>T	c.(358-360)ttC>ttT	p.F120F	TMC3_uc021ssj.1_Silent_p.F120F|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Silent_p.F120F	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	120						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CCCAGGGAATGAAGATGACCA	0.483000														19			12		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21742392	21742392	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:21742392G>A	uc003svc.3	+	37	6297	c.6266G>A	c.(6265-6267)cGa>cAa	p.R2089Q		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2089					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2089*(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTCTGAAACGAGGAGATAAA	0.398000									Kartagener syndrome					22			9		0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71255522	71255522	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71255522C>T	uc011cas.2	+	2	278	c.197C>T	c.(196-198)cCc>cTc	p.P66L	SMR3A_uc003hfh.3_Missense_Mutation_p.P66L	NM_006685	NP_006676	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3B (SMR3B), mRNA.	70	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CCTCCCGCACCCTATGGTCCA	0.597000														117			47		0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113218404	113218404	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:113218404G>A	uc003eag.4	-	3	464	c.173C>T	c.(172-174)tCg>tTg	p.S58L	SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc011bie.1_Missense_Mutation_p.S70L|SPICE1_uc003eai.1_Missense_Mutation_p.S58L	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.	58					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TCTATTCTTCGATTTGTGTAT	0.368000														29			15		0	0	1	0	0
SLC16A1	6566	broad.mit.edu	37	1	113460565	113460565	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:113460565G>A	uc001ecx.3	-	3	1295	c.463C>T	c.(463-465)Cct>Tct	p.P155S	SLC16A1_uc001ecy.3_Missense_Mutation_p.P155S|SLC16A1_uc001ecz.3_Missense_Mutation_p.P155S	NM_001166496	NP_003042	P53985	MOT1_HUMAN	Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1), transcript variant 2, mRNA.	155					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	AGGAACACAGGGCTGCCTGCC	0.507000														71			23		0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30126365	30126365	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30126365G>A	uc003npo.3	-	2	643	c.567C>T	c.(565-567)ttC>ttT	p.F189F	TRIM10_uc003npn.2_Silent_p.F189F	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	189						cytoplasm	zinc ion binding	p.F189F(1)		ovary(1)	1						TCAGGTGTGCGAACTCAGAAA	0.517000														225			100		0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222802183	222802183	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:222802183C>T	uc001hnl.3	+	3	1630	c.1621C>T	c.(1621-1623)Cac>Tac	p.H541Y	MIA3_uc009xea.1_Missense_Mutation_p.H377Y	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	541					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	p.L540L(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGGAATGCTCCACGAAGAAAA	0.413000														146			16		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49210260	49210260	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:49210260G>A	uc002rww.3	-	6	680	c.570C>T	c.(568-570)ttC>ttT	p.F190F	FSHR_uc010fbn.3_Silent_p.F164F|FSHR_uc002rwx.3_Silent_p.F190F|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	190					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.A189fs*8(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GGGTTCCATTGAATGCACAGT	0.373000									Gonadal Dysgenesis, 46 XX					57			14		0	0	1	0	0
PHYHIP	9796	broad.mit.edu	37	8	22079283	22079283	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:22079283C>T	uc003xbk.4	-	5	1270	c.576G>A	c.(574-576)acG>acA	p.T192T	PHYHIP_uc003xbj.4_Silent_p.T192T	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.	192										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GGGGCTGGCCCGTGTTGAACT	0.627000														10			5		0	0	1	0	0
NFAM1	150372	broad.mit.edu	37	22	42807656	42807656	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:42807656G>A	uc003bcn.4	-	1	246	c.208C>T	c.(208-210)Cca>Tca	p.P70S		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	Homo sapiens NFAT activating protein with ITAM motif 1 (NFAM1), mRNA.	70	Ig-like V-type.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						GGAGTGTATGGATAGGTGATC	0.547000														65			38		0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151509770	151509770	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151509770C>T	uc009wmw.3	+	20	3704	c.3560C>T	c.(3559-3561)tCg>tTg	p.S1187L	CGN_uc010pde.2_Missense_Mutation_p.S181L	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	1181	Tail.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TACGATCCCTCGTCCATTGCA	0.552000														65			19		0	0	1	0	0
B3GNT7	93010	broad.mit.edu	37	2	232263400	232263400	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:232263400C>T	uc002vrs.3	+	1	1150	c.970C>T	c.(970-972)Ccg>Tcg	p.P324S		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.	324					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GGAGCTCTACCCGATCGACGA	0.672000														53			9		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467458	10467458	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10467458C>T	uc003wtc.3	-	3	4379	c.4150G>A	c.(4150-4152)Gga>Aga	p.G1384R		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1384					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)		CCTTGCAGTCCTCCTTCTGGC	0.527000														360			123		0	0	1	0	0
RNMT	8731	broad.mit.edu	37	18	13741672	13741672	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:13741672C>T	uc002ksk.1	+	5	1023	c.956C>T	c.(955-957)cCc>cTc	p.P319L	RNMT_uc002ksl.1_Missense_Mutation_p.P319L|RNMT_uc002ksm.1_Missense_Mutation_p.P319L|RNMT_uc010dlk.2_Missense_Mutation_p.P319L|RNMT_uc010xae.1_Non-coding_Transcript	NM_003799	NP_003790	O43148	MCES_HUMAN	Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA.	319					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	RNA binding|mRNA (guanine-N7-)-methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GGTACTACTCCCAATAGCTTT	0.343000														89			17		0	0	1	0	0
FAM35B2	439965	broad.mit.edu	37	10	47380998	47380998	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:47380998G>A	uc010qfz.2	+	0		c.1279G>A								Homo sapiens family with sequence similarity 35, member B2 (pseudogene) (FAM35B2), non-coding RNA.																		CTGAATTTAAGAGTATTAAAA	0.328000														47			16		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49001477	49001477	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49001477C>T	uc002pjk.3	-	11	2936	c.2936G>A	c.(2935-2937)gGg>gAg	p.G979E		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTCGGGGGACCCCAGGGCCCC	0.642000														102			34		0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34526853	34526853	+	Silent	SNP	C	T	T	rs17347322	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34526853C>T	uc002xek.1	+	15	2646	c.2535C>T	c.(2533-2535)cgC>cgT	p.R845R		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	845					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AGAAGCCCCGCGCCTATTACC	0.632000														51			4		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267675	71267675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:71267675G>A	uc001xmm.3	-	1	529	c.529C>T	c.(529-531)Cct>Tct	p.P177S	MAP3K9_uc001xml.3_Missense_Mutation_p.P177S	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	177	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TCCTCATCAGGGTCGTGGCGA	0.537000														142			15		0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67943846	67943846	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:67943846C>T	uc004dxb.3	+	13	3291	c.3077C>T	c.(3076-3078)cCg>cTg	p.P1026L	STARD8_uc004dxa.3_Missense_Mutation_p.P946L|STARD8_uc004dxc.4_Missense_Mutation_p.P946L	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	946					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TCCCTGGATCCGGAACAACCT	0.607000														23			24		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70960308	70960308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70960308C>T	uc001swb.4	-	12	3187	c.3157G>A	c.(3157-3159)Gaa>Aaa	p.E1053K	PTPRB_uc010sto.2_Intron|PTPRB_uc010stp.2_Missense_Mutation_p.E963K|PTPRB_uc001swc.4_Missense_Mutation_p.E1271K|PTPRB_uc001swa.4_Missense_Mutation_p.E1183K|PTPRB_uc001swd.4_Missense_Mutation_p.E1270K|PTPRB_uc009zrr.2_Missense_Mutation_p.E1150K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1053	Fibronectin type-III 12.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTTAGATCTTCAAATTTGTGT	0.448000														30			33		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47628897	47628897	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:47628897C>T	uc001rpq.3	+	1	576	c.51C>T	c.(49-51)ttC>ttT	p.F17F	FAM113B_uc001rpn.3_Silent_p.F17F|FAM113B_uc021qxi.1_Silent_p.F17F	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	17							hydrolase activity	p.F17F(4)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					ACAATAAGTTCGTGGTCATCC	0.592000														23			31		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99448892	99448892	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:99448892C>T	uc002szf.1	-	4	753	c.459G>A	c.(457-459)atG>atA	p.M153I		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	153										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						CCTCAGAGCTCATGCCGGCAT	0.572000														54			30		0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212276201	212276201	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:212276201C>T	uc009xdc.3	+	14	2426	c.2112C>T	c.(2110-2112)agC>agT	p.S704S	DTL_uc010ptb.2_Silent_p.S662S|DTL_uc001hiz.4_Silent_p.S433S	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA.	704					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCACGCCCAGCTCCATGAGGA	0.388000														43			20		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134968307	134968307	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:134968307C>T	uc003eqt.3	+	14	3195	c.2820C>T	c.(2818-2820)ctC>ctT	p.L940L	EPHB1_uc003equ.3_Silent_p.L501L	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	940	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCACCTCCCTCCAGCTGGTCA	0.547000														89			11		0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77719701	77719701	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:77719701C>T	uc001xtf.2	+	22	2414	c.2202C>T	c.(2200-2202)tcC>tcT	p.S734S	TMEM63C_uc010asq.1_Silent_p.S734S	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	734						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GCAGCACCTCCTCCACGCCCA	0.617000														16			5		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995889	140995889	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140995889G>A	uc004fbt.3	+	3	3023	c.2699G>A	c.(2698-2700)aGc>aAc	p.S900N	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_Missense_Mutation_p.S559N	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	900							protein binding	p.S900I(2)|p.S900R(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)					TTGATAGAGAGCGAGCCCTTG	0.473000										HNSCC(15;0.026)				82			82		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63680336	63680336	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:63680336G>A	uc011kdn.2	+	3	907	c.907G>A	c.(907-909)Ggc>Agc	p.G303S		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TGAAGAATGTGGCAAAGCCTT	0.448000														72			5		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16870169	16870169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16870169C>T	uc002neu.4	+	6	2325	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	NWD1_uc002net.4_Missense_Mutation_p.R500C|NWD1_uc002nev.4_Missense_Mutation_p.R429C|NWD1_uc021uqg.1_Missense_Mutation_p.R500C	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	635	NACHT.						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						GGTGCGGCTTCGTCGGGATCT	0.652000														15			8		0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104075171	104075171	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104075171G>A	uc004bbb.3	+	5	1127	c.728G>A	c.(727-729)gGc>gAc	p.G243D	LPPR1_uc011lvi.2_Missense_Mutation_p.G219D|LPPR1_uc004bbc.3_Missense_Mutation_p.G243D|LPPR1_uc010mtc.3_Missense_Mutation_p.G227D	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	243						integral to membrane	catalytic activity										TTCCTGACAGGCCTCAACCGG	0.547000														115			28		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23872985	23872985	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23872985C>T	uc001wjv.3	-	8	809	c.738G>A	c.(736-738)ggG>ggA	p.G246G	MYH6_uc010akp.2_Silent_p.G246G	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	246	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			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)		TAATGAATTTCCCCTGGGGAC	0.567000														17			6		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13323499	13323499	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:13323499C>T	uc002mwy.3	-	40	6232	c.5996G>A	c.(5995-5997)gGg>gAg	p.G1999E	CACNA1A_uc002mwx.3_Missense_Mutation_p.G705E|CACNA1A_uc010dzc.2_Missense_Mutation_p.G1525E|CACNA1A_uc010xnd.2_Missense_Mutation_p.G2002E|CACNA1A_uc021ups.1_Missense_Mutation_p.G1999E|CACNA1A_uc010xne.2_Missense_Mutation_p.G2002E|CACNA1A_uc010dze.2_Missense_Mutation_p.G1999E|CACNA1A_uc021upt.1_Missense_Mutation_p.G2000E|CACNA1A_uc002mwv.3_Missense_Mutation_p.G516E	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	2000					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCCAGGTCCCCCTTCCTGCGT	0.687000														8			6		0	0	1	0	0
PRHOXNB	646625	broad.mit.edu	37	13	28562602	28562602	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:28562602G>A	uc010aan.1	-	0	173	c.173C>T	c.(172-174)tCa>tTa	p.S58L		NM_001105577	NP_001099047	A6NGE7	URAD_HUMAN	Homo sapiens parahox cluster neighbor (PRHOXNB), mRNA.	58					allantoin biosynthetic process|purine base metabolic process	peroxisome	carboxy-lyase activity	p.Q57P(1)		large_intestine(1)|lung(1)|stomach(1)	3	all_cancers(110;0.12)|all_hematologic(3;0.0119)|Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		AGCCTTACCTGACTGTGCAAG	0.433000														45			18		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10088351	10088351	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10088351C>T	uc003buw.3	+	14	1300	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	FANCD2_uc003bux.1_Nonsense_Mutation_p.R408*|FANCD2_uc003buy.1_Nonsense_Mutation_p.R408*|FANCD2_uc010hcw.1_5'Flank	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	408					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAATAAGATTCGATCAGGCTG	0.368000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					116			25		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227946862	227946862	+	Silent	SNP	C	T	T	rs137880920	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:227946862C>T	uc021vxr.1	-	21	1766	c.1665G>A	c.(1663-1665)gcG>gcA	p.A555A	COL4A4_uc021vxs.1_Silent_p.A555A	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	555	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGTCACCCTTCGCCCCTTTGT	0.418000														102			98		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94586593	94586593	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94586593G>A	uc001dqh.3	-	0	113	c.9C>T	c.(7-9)ttC>ttT	p.F3F	ABCA4_uc010otn.1_Silent_p.F3F	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	3					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)		TCTGTCTCACGAAGCCCATGC	0.507000														71			37		0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169374	90169374	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:90169374C>T	uc003hsm.1	-	1	2407	c.1888G>A	c.(1888-1890)Gcc>Acc	p.A630T	GPRIN3_uc021xqb.1_Missense_Mutation_p.A630T	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	630										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CGTGGGCTGGCTTTGACGGAG	0.582000														83			40		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	159971	159971	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000192.1:159971G>A	uc010yih.1	-	11		c.2451C>T						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											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)				GGATGTTAAGGAAGGGTACGC	0.602000														27			5		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140167494	140167494	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:140167494G>A	uc003etn.3	+	5	1111	c.921G>A	c.(919-921)ggG>ggA	p.G307G	CLSTN2_uc003etm.2_Silent_p.G307G	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	307					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						ATTACATTGGGAAGGGTTGTG	0.483000										HNSCC(16;0.037)				119			22		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123249380	123249380	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:123249380C>T	uc003ieh.3	+	63	11162	c.11117C>T	c.(11116-11118)tCa>tTa	p.S3706L	KIAA1109_uc003iem.3_Missense_Mutation_p.S97L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3706					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGAGGCTTTTCACCAGGCATT	0.443000														107			48		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155203216	155203216	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:155203216T>C	uc021xge.1	-	21	3204	c.2927A>G	c.(2926-2928)aAc>aGc	p.N976S	PLCH1_uc021xgd.1_Missense_Mutation_p.N976S|PLCH1_uc021xgf.1_Missense_Mutation_p.N938S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	976					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCCAGAAGGTTTCTGTCAAC	0.468000														103			35		0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25773505	25773505	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:25773505G>A	uc003nfe.3	+	6	828	c.709G>A	c.(709-711)Gga>Aga	p.G237R	SLC17A4_uc011djx.2_Intron|SLC17A4_uc003nff.1_Intron|SLC17A4_uc003nfg.3_Missense_Mutation_p.G174R|SLC17A4_uc010jqa.3_5'Flank	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	237					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTTCCTAGGAGGAATTGGCTG	0.443000														94			45		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13397666	13397666	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:13397666C>T	uc002mwy.3	-	19	3440	c.3204G>A	c.(3202-3204)atG>atA	p.M1068I	CACNA1A_uc010dzc.2_Missense_Mutation_p.M594I|CACNA1A_uc010xnd.2_Missense_Mutation_p.M1071I|CACNA1A_uc021ups.1_Missense_Mutation_p.M1068I|CACNA1A_uc010xne.2_Missense_Mutation_p.M1071I|CACNA1A_uc010dze.2_Missense_Mutation_p.M1068I|CACNA1A_uc021upt.1_Missense_Mutation_p.M1069I	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1069					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGTTGTTCTTCATGTTGTCAA	0.672000														27			11		0	0	1	0	0
YAE1D1	57002	broad.mit.edu	37	7	39611996	39611996	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:39611996C>T	uc003thc.4	+	2	387	c.372C>T	c.(370-372)atC>atT	p.I124I		NM_020192	NP_064577	Q9NRH1	CG036_HUMAN	Homo sapiens Yae1 domain containing 1 (YAE1D1), mRNA.	124																	TGAAATCAATCACTCCACCGT	0.368000														93			22		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561502	145561502	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:145561502C>T	uc001eob.1	+	9	1298	c.1190C>T	c.(1189-1191)cCa>cTa	p.P397L	ANKRD35_uc010oyx.1_Missense_Mutation_p.P240L	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	397										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACAGTAAATCCAGTATTAGCT	0.552000														54			18		0	0	1	0	0
ZSCAN23	222696	broad.mit.edu	37	6	28403867	28403868	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28403867_28403868GG>AA	uc003nli.4	-	1	357_358	c.176_177CC>TT	c.(175-177)tcc>tTT	p.S59F	ZSCAN23_uc003nlh.2_Non-coding_Transcript|ZSCAN23_uc010jrf.1_Intron|ZSCAN23_uc011dli.2_Missense_Mutation_p.S59F	NM_001012455	NP_001012458	Q3MJ62	ZSC23_HUMAN	Homo sapiens zinc finger and SCAN domain containing 23 (ZSCAN23), mRNA.	59	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|prostate(1)|stomach(2)	4						GGGGCCCAGGGGACTCCTGATA	0.554000														41			19		0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125435305	125435305	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:125435305G>A	uc001ugy.3	-	21	3013	c.2914C>T	c.(2914-2916)Ctt>Ttt	p.L972F	DHX37_uc001ugz.1_Missense_Mutation_p.L59F	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	972							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TCTTTGAAAAGGACGGAGCTG	0.582000														54			24		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941685	144941685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144941685G>A	uc003zaa.1	-	0	5750	c.5737C>T	c.(5737-5739)Ctc>Ttc	p.L1913F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1913						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTCATGGAGGCTCATGACC	0.662000														37			9		0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	60995608	60995608	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:60995608C>T	uc002sai.3	+	3	499	c.250C>T	c.(250-252)Ctc>Ttc	p.L84F	PAPOLG_uc002saj.3_5'UTR|PAPOLG_uc002sak.3_5'UTR	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA.	84					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			ATTTTAGAACCTCCCACCTTC	0.383000														109			10		0	0	1	0	0
CNOT6L	246175	broad.mit.edu	37	4	78641627	78641627	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:78641627G>A	uc011ccd.2	-	11	1757	c.1626C>T	c.(1624-1626)ctC>ctT	p.L542L	CNOT6L_uc003hks.3_Silent_p.L542L	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	542					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CAAGAGGCAGGAGTGGAGGGT	0.507000														120			28		0	0	1	0	0
GABRR2	2570	broad.mit.edu	37	6	89975401	89975401	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:89975401G>A	uc003pnb.2	-	6	903	c.895C>T	c.(895-897)Ctg>Ttg	p.L299L	GABRR2_uc011dzx.1_Silent_p.L175L	NM_002043	NP_002034	P28476	GBRR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA.	299					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.T299K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		ATGACCATCAGAGTGGCAGGG	0.512000														38			33		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99448865	99448865	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:99448865C>T	uc002szf.1	-	4	780	c.486G>A	c.(484-486)agG>agA	p.R162R		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	162										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						CTGGGGGGCTCCTGGGCAGCC	0.617000														68			32		0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850804	71850804	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:71850804G>A	uc001ory.1	+	4	843	c.793G>A	c.(793-795)Gag>Aag	p.E265K	FOLR3_uc001orx.1_Missense_Mutation_p.E222K			P41439	FOLR3_HUMAN	Homo sapiens folate receptor 3 (gamma) (FOLR3), mRNA.	221					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CAACCCCAATGAGGAGGTGGC	0.572000														42			18		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41004526	41004526	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41004526G>A	uc003jmj.4	-	36	4606	c.4116C>T	c.(4114-4116)atC>atT	p.I1372I	HEATR7B2_uc003jmi.4_Silent_p.I927I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1372							binding	p.I1372T(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						GCAGCTCCAGGATTTTTTTTA	0.438000														114			36		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176721426	176721426	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176721426C>T	uc003mfr.4	+	22	7195	c.7057C>T	c.(7057-7059)Cct>Tct	p.P2353S	NSD1_uc003mft.4_Missense_Mutation_p.P2084S|NSD1_uc011dfx.2_Missense_Mutation_p.P2001S|NSD1_uc021yip.1_Missense_Mutation_p.P177S	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2353	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACTGGAAAGACCTCTGGGGAC	0.592000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				45			13		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108782046	108782046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108782046C>T	uc003dxl.3	-	9	935	c.848G>A	c.(847-849)gGa>gAa	p.G283E	MORC1_uc011bhn.2_Missense_Mutation_p.G283E	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	283					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTAAATGCTCCTTTAAAAGA	0.303000														101			15		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114136163	114136163	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:114136163C>T	uc001kzu.3	+	0	208	c.96C>T	c.(94-96)agC>agT	p.S32S	ACSL5_uc001kzs.3_Intron|ACSL5_uc001kzt.3_Intron	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	0					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGCCGGGAAGCCCCCATTCAC	0.602000														108			15		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117171115	117171115	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:117171115C>T	uc003vjd.3	+	3	568	c.436C>T	c.(436-438)Cat>Tat	p.H146Y	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	146	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTTGGCCTTCATCACATTGG	0.418000									Cystic Fibrosis					56			8		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106456510	106456510	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:106456510G>A	uc003ymd.3	+	2	225	c.202G>A	c.(202-204)Gat>Aat	p.D68N		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	68					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTTTCCAGGTGATGATGAAGG	0.463000														16			6		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810368	123810368	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123810368G>A	uc001pzk.1	+	0	45	c.45G>A	c.(43-45)ctG>ctA	p.L15L		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTGTTCTACTGGGGCTCTCTC	0.418000														84			30		0	0	1	0	0
MYL10	93408	broad.mit.edu	37	7	101256829	101256829	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:101256829G>A	uc003uyr.3	-	7	785	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S		NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN	Homo sapiens myosin, light chain 10, regulatory (MYL10), mRNA.	203	EF-hand 3.					mitochondrion	calcium ion binding	p.P203S(2)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						ACATCTGGGGGAAATGCTGCA	0.557000														94			33		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27212761	27212761	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:27212761C>T	uc011lno.2	+	15	3056	c.2614C>T	c.(2614-2616)Cgc>Tgc	p.R872C	TEK_uc003zqi.4_Missense_Mutation_p.R915C|TEK_uc011lnp.2_Missense_Mutation_p.R767C	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	915	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GGACTTCCTTCGCAAGAGCCG	0.582000														39			7		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104048474	104048474	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:104048474G>A	uc001tjw.3	+	12	1735	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	517	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAGCAACAATGAGGTGAGTAT	0.463000														86			32		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141079606	141079606	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141079606G>A	uc002tvj.1	-	81	13538	c.12566C>T	c.(12565-12567)cCt>cTt	p.P4189L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4189					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCCCCAGAAGGATTTAGCAA	0.373000										TSP Lung(27;0.18)				60			15		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92278668	92278668	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:92278668C>T	uc001xzu.4	-	2	480	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	TC2N_uc001xzt.4_Missense_Mutation_p.E97K|TC2N_uc010auc.3_Missense_Mutation_p.E97K|TC2N_uc001xzv.4_Missense_Mutation_p.E97K	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	97						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TCAAGTTCTTCCAGATGTGAA	0.303000														36			13		0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39987429	39987429	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:39987429C>T	uc010ggh.3	+	19	2573	c.2482C>T	c.(2482-2484)Ctg>Ttg	p.L828L	LPIN3_uc002xjx.3_Silent_p.L827L|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	827					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	p.L827Q(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CAGCACAGACCTGGCCAACCC	0.617000														135			12		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018170	62018171	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62018170_62018171CC>TT	uc002jds.1	-	23	5548_5549	c.5471_5472GG>AA	c.(5470-5472)ggg>gAA	p.G1824E		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1824					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCACAGTCTGCCCTGGGGGAGG	0.683000														64			6		0	0	1	0	0
MRPL1	65008	broad.mit.edu	37	4	78873665	78873665	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:78873665C>T	uc003hku.2	+	8	1080	c.882C>T	c.(880-882)ttC>ttT	p.F294F		NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA.	294							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TACGTGCTTTCCTTCGTAGTT	0.358000														77			32		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130511630	130511630	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130511630G>A	uc004bsc.3	-	4	1141	c.999C>T	c.(997-999)ggC>ggT	p.G333G	SH2D3C_uc010mxo.3_Silent_p.G173G|SH2D3C_uc004bry.3_Silent_p.G175G|SH2D3C_uc004brz.4_5'UTR|SH2D3C_uc011mak.2_5'UTR|SH2D3C_uc004bsb.3_Silent_p.G265G|SH2D3C_uc004bsa.3_Silent_p.G176G	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	333					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTGTCCCAGGCCATAGCTGG	0.647000														63			5		0	0	1	0	0
IFLTD1	160492	broad.mit.edu	37	12	25679772	25679772	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:25679772C>T	uc010sji.1	-	4	854	c.609G>A	c.(607-609)gtG>gtA	p.V203V	IFLTD1_uc001rgt.1_Silent_p.V85V|IFLTD1_uc001rgs.2_Silent_p.V182V|IFLTD1_uc010sjj.2_Silent_p.V119V|IFLTD1_uc009zjc.2_Silent_p.V203V	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.	182						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TTTGTCCATTCACATTTTGCT	0.368000														59			30		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103787	53103787	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:53103787C>T	uc003tpz.3	+	0	439	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	141										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCATCGGGATCGCGCCCCCTG	0.716000														42			19		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227919421	227919421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:227919421G>A	uc021vxr.1	-	29	2850	c.2749C>T	c.(2749-2751)Ccc>Tcc	p.P917S	COL4A4_uc021vxs.1_Missense_Mutation_p.P917S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	917	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTTTCTCCGGGAAAACCTGGG	0.512000														51			16		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174630	51174630	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:51174630C>T	uc021tif.1	-	1	1534	c.1212G>A	c.(1210-1212)gaG>gaA	p.E404E	SALL1_uc021tid.1_Silent_p.E404E|SALL1_uc021tie.1_Silent_p.E501E|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	501					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAGGGTATTTCTCTTTGTGGC	0.517000														87			30		0	0	1	0	0
THBD	7056	broad.mit.edu	37	20	23029230	23029230	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:23029230G>A	uc002wss.3	-	0	1072	c.912C>T	c.(910-912)ggC>ggT	p.G304G	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Silent_p.G245G	NM_000361	NP_000352	P07204	TRBM_HUMAN	Homo sapiens thrombomodulin (THBD), mRNA.	304	EGF-like 2.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	ACGAGTAGGAGCCCGGCTGGT	0.687000														15			8		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767661	105767661	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:105767661G>A	uc004bbs.2	+	4	818	c.748G>A	c.(748-750)Gat>Aat	p.D250N		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	250	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TGGAAAAAAAGATGCAAACAA	0.368000														48			10		0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103051925	103051925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:103051925C>T	uc003vbz.3	-	5	774	c.512G>A	c.(511-513)aGa>aAa	p.R171K	SLC26A5_uc003vbt.2_Missense_Mutation_p.R171K|SLC26A5_uc003vbu.2_Missense_Mutation_p.R171K|SLC26A5_uc003vbv.2_Missense_Mutation_p.R171K|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.R171K	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	171					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CAAGGCATCTCTGGCCTCTGT	0.448000														78			24		0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239413	21239414	+	Missense_Mutation	DNP	GG	AA	AA	rs146172550	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21239413_21239414GG>AA	uc010mis.3	-	0	565_566	c.521_522CC>TT	c.(520-522)tcc>tTT	p.S174F	IFNA14_uc003zoo.1_Non-coding_Transcript	NM_002172	NP_002163	P01570	IFN14_HUMAN	Homo sapiens interferon, alpha 14 (IFNA14), mRNA.	174					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AAAAAGAGAGGGATCTCATGAT	0.391000														357			99		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41400142	41400142	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:41400142C>T	uc002xkg.3	-	4	801	c.617G>A	c.(616-618)gGg>gAg	p.G206E	PTPRT_uc010ggj.3_Missense_Mutation_p.G206E	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	206	Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCATTCTGCCCCACATTCAC	0.493000														164			56		0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086308	56086308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56086308C>T	uc010rjf.2	+	0	526	c.526C>T	c.(526-528)Cat>Tat	p.H176Y		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CGTCATTAGTCATTTCTACTG	0.358000														79			25		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096388	167096388	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167096388G>A	uc001geb.1	+	4	2036	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	674					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGCTGATGGGGACACGACGTC	0.632000														45			7		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647813	51647813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51647813C>T	uc002pvv.1	+	1	653	c.584C>T	c.(583-585)tCc>tTc	p.S195F	SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	195	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTGCACCCCTCCACCACCCGC	0.667000														107			54		0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103566796	103566796	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:103566796C>T	uc001ymk.3	+	0	316	c.240C>T	c.(238-240)tcC>tcT	p.S80S		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	80								p.S80F(1)		cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GGCGAAGCTCCTGCTCCCTGT	0.672000														25			13		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008349	11008349	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11008349C>T	uc010oao.2	-	11	1843	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	C1orf127_uc001ars.2_Missense_Mutation_p.E450K|C1orf127_uc001arr.2_Missense_Mutation_p.E458K	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	466										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GAGCACGTTTCCTGGGGCTCT	0.662000														96			38		0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104238223	104238223	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104238223G>A	uc004bbm.3	-	1	1474	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.L384L	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	384						integral to membrane											TGTGTTTCACGAGGTTCGGCT	0.542000														53			33		0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55110892	55110892	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55110892C>T	uc010rie.2	+	0	216	c.216C>T	c.(214-216)tcC>tcT	p.S72S		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S72Y(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CCATATATTCCACTGCCATGT	0.443000														189			67		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874791	144874791	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:144874791G>A	uc021ouh.1	-	29	5119	c.4817C>T	c.(4816-4818)tCt>tTt	p.S1606F	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_Missense_Mutation_p.S1606F|PDE4DIP_uc001elx.4_Missense_Mutation_p.S1562F|PDE4DIP_uc001elv.4_Missense_Mutation_p.S613F	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1606	NBPF.				cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.R1605C(1)		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)		GCTGCTGGGAGAGCGGTGGGA	0.547000			T	PDGFRB	MPD									328			29		0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101546431	101546431	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:101546431G>A	uc004ayu.3	-	3	937	c.916C>T	c.(916-918)Cag>Tag	p.Q306*	ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Nonsense_Mutation_p.Q5*	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	306										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TTGACCAGCTGGAAGTTTCCT	0.557000														29			13		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277924	152277924	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152277924C>T	uc001ezu.1	-	2	9474	c.9438G>A	c.(9436-9438)caG>caA	p.Q3146Q		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3146	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGACCTTCCCTGGGATGTGG	0.572000									Ichthyosis					271			107		0	0	1	0	0
DUOXA1	90527	broad.mit.edu	37	15	45411507	45411507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45411507G>A	uc001zup.3	-	8	1229	c.829C>T	c.(829-831)Cac>Tac	p.H277Y	DUOXA1_uc010uem.2_Missense_Mutation_p.H232Y|DUOXA1_uc010bec.3_Missense_Mutation_p.H277Y|DUOXA1_uc001zuq.1_Missense_Mutation_p.H277Y|DUOXA1_uc001zur.1_Missense_Mutation_p.H232Y|DUOXA1_uc010bed.1_Missense_Mutation_p.H232Y	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN	Homo sapiens dual oxidase maturation factor 1 (DUOXA1), mRNA.	277					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		TTCAGCCTGTGAGGCTGCATC	0.582000														46			12		0	0	1	0	0
RGS21	431704	broad.mit.edu	37	1	192321319	192321319	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:192321319C>T	uc001gsh.3	+	3	405	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	77	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						ATTCTGAATTCATTGAAGCTG	0.388000														44			21		0	0	1	0	0
AK1	203	broad.mit.edu	37	9	130630338	130630339	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130630338_130630339GG>AA	uc004bsm.4	-	6	686_687	c.533_534CC>TT	c.(532-534)tcc>tTT	p.S178F		NM_000476	NP_000467	P00568	KAD1_HUMAN	Homo sapiens adenylate kinase 1 (AK1), mRNA.	178					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|adenylate kinase activity|protein binding			endometrium(1)|prostate(1)	2						CACTGTCCACGGAGCCCTCAGC	0.673000														51			27		0	0	1	0	0
CA3	761	broad.mit.edu	37	8	86358415	86358415	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:86358415C>T	uc003ydj.3	+	5	635	c.552C>T	c.(550-552)ttC>ttT	p.F184F	CA3_uc011lfv.2_Non-coding_Transcript	NM_005181	NP_005172	P07451	CAH3_HUMAN	Homo sapiens carbonic anhydrase III, muscle specific (CA3), mRNA.	184					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCTGCCTGTTCCCGGCATGCC	0.607000														20			8		0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168066390	168066390	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:168066390C>T	uc010pln.2	-	3	1049	c.515G>A	c.(514-516)tGg>tAg	p.W172*	GPR161_uc001gfb.3_Nonsense_Mutation_p.W20*|GPR161_uc001gfc.3_Nonsense_Mutation_p.W152*|GPR161_uc010pll.2_Nonsense_Mutation_p.W62*|GPR161_uc010plm.2_Nonsense_Mutation_p.W38*|GPR161_uc009wvo.3_Nonsense_Mutation_p.W169*|GPR161_uc001gfd.3_Nonsense_Mutation_p.W152*|GPR161_uc001gfe.1_Nonsense_Mutation_p.W152*	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	152					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D172D(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CGAGTGAAGCCAGATGTAGAC	0.552000														86			6		0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469386	72469386	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:72469386G>A	uc010izc.3	+	0	364	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	106						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		AGAAAGTGAGGAAAGGGTCCC	0.532000														84			29		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87173491	87173491	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87173491C>T	uc003uiz.2	-	17	2658	c.2165G>A	c.(2164-2166)gGa>gAa	p.G722E	ABCB1_uc011khc.2_Missense_Mutation_p.G658E	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	722	ABC transmembrane type-1 2.				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	p.G722V(2)		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)	TTGCAGGCCTCCATTTATAAT	0.358000														55			29		0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50169713	50169713	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50169713G>A	uc011arg.2	-	10	2984	c.2970C>T	c.(2968-2970)ccC>ccT	p.P990P	BRD1_uc011arf.2_Silent_p.P667P|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Silent_p.P941P|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Silent_p.P1072P	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	941	PWWP.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCGGGTAGGAGGGGTAGCCGC	0.692000														34			21		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113171163	113171163	+	Silent	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113171163T>G	uc010mtz.3	-	37	7054	c.6717A>C	c.(6715-6717)ggA>ggC	p.G2239G	SVEP1_uc010mty.3_Silent_p.G165G	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2239	Sushi 14.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATACAGGACTTCCGACTGACT	0.507000														140			17		0	0	1	0	0
C6orf221	154288	broad.mit.edu	37	6	74073386	74073386	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:74073386G>A	uc003pgt.4	+	2	510	c.457G>A	c.(457-459)Gag>Aag	p.E153K		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	153										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						GGAGGTCCGGGAGGCCGGGAC	0.677000														33			26		0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36170360	36170360	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:36170360G>A	uc003zzb.4	+	0	972	c.861G>A	c.(859-861)caG>caA	p.Q287Q		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	287					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCGGTGGCCAGAAGGCCCACG	0.572000														74			10		0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133918355	133918355	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:133918355G>A	uc001lkx.4	+	0	43	c.43G>A	c.(43-45)Gca>Aca	p.A15T		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGGGGACAAGGCAGAGGCCCT	0.677000														6			4		0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28617510	28617510	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:28617510G>A	uc002dqn.3	-	9	1507	c.915C>T	c.(913-915)tcC>tcT	p.S305S	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Silent_p.S214S|SULT1A1_uc002dqi.3_Silent_p.S214S|SULT1A1_uc002dqk.3_Silent_p.S214S|SULT1A1_uc002dql.3_Silent_p.S214S|SULT1A1_uc002dqm.3_Silent_p.S136S|SULT1A1_uc002dqp.3_Silent_p.S214S	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	214					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						CCTCTGGCAGGGAGCGCCCCA	0.547000														134			26		0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853227	35853227	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35853227C>T	uc003zyo.3	+	11	2344	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	TMEM8B_uc003zym.3_Silent_p.F352F	NM_001042590	NP_001036055	A6NDV4	TMM8B_HUMAN	Homo sapiens transmembrane protein 8B (TMEM8B), transcript variant 1, mRNA.	352					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CCAGTCTCTTCGCCCTGGGGA	0.612000														105			28		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66879961	66879961	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:66879961C>T	uc002jhq.3	-	28	4018	c.3678G>A	c.(3676-3678)aaG>aaA	p.K1226K	ABCA8_uc002jhp.3_Silent_p.K1186K|ABCA8_uc010wqq.2_Silent_p.K1226K	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1186						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCATTGATTTCTTTCCAAACT	0.284000														36			13		0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68839451	68839451	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:68839451C>T	uc001oos.2	+	10	1137	c.1021C>T	c.(1021-1023)Cta>Tta	p.L341L	TPCN2_uc009ysk.1_Non-coding_Transcript|TPCN2_uc001oor.2_Silent_p.L256L|TPCN2_uc010rqg.1_Silent_p.L341L|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	341					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTTTGAAGTCCTATCCTCCAT	0.627000														94			27		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720829	140720829	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140720829G>A	uc003ljk.2	+	0	2476	c.2291G>A	c.(2290-2292)cGg>cAg	p.R764Q	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Missense_Mutation_p.R764Q|PCDHGC5_uc011dap.2_5'Flank	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	769					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)			GCGGACTCGCGGAAGAGCCAC	0.562000														216			22		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36130237	36130237	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:36130237C>T	uc003gsq.2	-	20	3896	c.3558G>A	c.(3556-3558)acG>acA	p.T1186T		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1186	Rho-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						TCAACACAGCCGTCACATCTT	0.388000														56			20		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79429952	79429952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:79429952C>T	uc003hlb.2	+	62	10012	c.9572C>T	c.(9571-9573)tCc>tTc	p.S3191F	FRAS1_uc003hlc.1_Missense_Mutation_p.S193F	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3186					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAATCCCCCTCCCCAGGCTAC	0.542000														27			4		0	0	1	0	0
ORM1	5004	broad.mit.edu	37	9	117087420	117087420	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117087420C>T	uc004bik.4	+	4	639	c.528C>T	c.(526-528)acC>acT	p.T176T	ORM1_uc011lxo.2_Intron	NM_000607	NP_000598	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 1 (ORM1), mRNA.	176					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	TCGTGTACACCGATTGGAAAA	0.577000														52			21		0	0	1	0	0
KCNK15	60598	broad.mit.edu	37	20	43378995	43378995	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43378995C>T	uc002xmr.3	+	1	573	c.509C>T	c.(508-510)aCc>aTc	p.T170I		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	Homo sapiens potassium channel, subfamily K, member 15 (KCNK15), mRNA.	170						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				TGTGCCGCCACCCTGGCCCTC	0.687000														18			12		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48593948	48593948	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48593948G>A	uc010wmr.2	+	1	385	c.223G>A	c.(223-225)Gga>Aga	p.G75R	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	38					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GCGGGCAAAGGGACCTGAACA	0.388000														60			7		0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35284668	35284668	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:35284668G>A	uc011kas.2	-	4	1026	c.546_splice	c.e4-1	p.R182_splice		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	182						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TGCACATAGAGCCTAAGAAAA	0.353000														31			9		0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285574	44285574	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:44285574C>T	uc010qfe.1	-	0	292	c.262G>A	c.(262-264)Gag>Aag	p.E88K						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		GCATCCACCTCTGTAACACAA	0.478000														106			30		0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56057736	56057736	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56057736C>T	uc010rje.2	-	0	803	c.803G>A	c.(802-804)gGa>gAa	p.G268E		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTGATCCCTTCCCAAAGAATA	0.338000														95			36		0	0	1	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37962533	37962533	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37962533G>A	uc003asz.4	+	1	580	c.177G>A	c.(175-177)ggG>ggA	p.G59G		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	59					positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					ATGTCTTCGGGGACACGTCCT	0.652000														19			8		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83770408	83770408	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:83770408C>T	uc001paj.2	-	5	857	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	DLG2_uc001pai.2_Missense_Mutation_p.R134Q|DLG2_uc010rsy.1_Missense_Mutation_p.R152Q|DLG2_uc021qof.1_Missense_Mutation_p.R224Q|DLG2_uc010rsz.1_Missense_Mutation_p.R185Q|DLG2_uc010rta.1_Missense_Mutation_p.R185Q|DLG2_uc001pak.2_Missense_Mutation_p.R290Q|DLG2_uc010rtb.1_Missense_Mutation_p.R152Q|DLG2_uc001pal.1_Missense_Mutation_p.R185Q|DLG2_uc001pam.2_Missense_Mutation_p.R224Q	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	185						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CAAAATAGGTCGTCTTCTACG	0.458000														116			28		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48382030	48382030	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48382030C>T	uc001jez.3	-	3	3733	c.3619G>A	c.(3619-3621)Gaa>Aaa	p.E1207K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	1207	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCCACCCCTTCCCAGGAGCTG	0.642000														52			32		0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947100	57947100	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57947100C>T	uc021qjm.1	+	0	184	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	OR9Q1_uc001nmj.3_Missense_Mutation_p.L62F	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				AATGTATTTCCTTCTGAGTCA	0.468000														178			38		0	0	1	0	0
EBI3	10148	broad.mit.edu	37	19	4231306	4231306	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4231306C>T	uc002lzu.3	+	1	194	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_005755	NP_005746	Q14213	IL27B_HUMAN	Homo sapiens Epstein-Barr virus induced 3 (EBI3), mRNA.	62	Fibronectin type-III 1.				T-helper 1 type immune response|humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGTCCTTCATTGCCACGT	0.652000														20			12		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48465262	48465262	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48465262G>A	uc003csw.2	-	2	1029	c.759C>T	c.(757-759)ctC>ctT	p.L253L	PLXNB1_uc003csu.2_Silent_p.L253L|PLXNB1_uc003csx.2_Silent_p.L253L|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	253	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTGGTCCCGGAGACACACTC	0.622000														82			17		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998408	72998408	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:72998408C>T	uc002lly.3	+	1	1474	c.911C>T	c.(910-912)cCc>cTc	p.P304L	TSHZ1_uc021uln.1_Missense_Mutation_p.P304L	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	349						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AAACTGGTCCCCTCCACCAAA	0.592000														67			23		0	0	1	0	0
CCDC83	220047	broad.mit.edu	37	11	85606413	85606413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:85606413G>A	uc001pbg.1	+	5	1101	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	CCDC83_uc001pbh.1_Missense_Mutation_p.E197K|CCDC83_uc001pbj.1_Missense_Mutation_p.E98K|CCDC83_uc001pbi.1_Non-coding_Transcript	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA.	197										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCAAAAGAAGGAATGGGCCAC	0.284000														65			25		0	0	1	0	0
RABEPK	10244	broad.mit.edu	37	9	127990228	127990228	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:127990228C>T	uc004bpi.3	+	6	735	c.566C>T	c.(565-567)cCt>cTt	p.P189L	RABEPK_uc004bpj.3_Missense_Mutation_p.P138L|RABEPK_uc004bpk.3_Missense_Mutation_p.P189L	NM_001174152	NP_005824	Q7Z6M1	RABEK_HUMAN	Homo sapiens Rab9 effector protein with kelch motifs (RABEPK), transcript variant 2, mRNA.	189					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CTTGGAAATCCTCCATCTCCC	0.473000														56			26		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112525033	112525033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:112525033G>A	uc001ebu.1	-	1	796	c.316C>T	c.(316-318)Ccg>Tcg	p.P106S	KCND3_uc001ebv.1_Missense_Mutation_p.P106S	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	106						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCGTAGCGCGGGTAGTGCAGC	0.602000														63			31		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798354	185798354	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:185798354G>A	uc002uph.3	+	2	874	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	94						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAAACAAAGGGAATTTGCTCG	0.358000														66			24		0	0	1	0	0
RSL1D1	26156	broad.mit.edu	37	16	11941590	11941590	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:11941590G>A	uc002dbp.1	-	2	392	c.319C>T	c.(319-321)Cct>Tct	p.P107S	RSL1D1_uc010buv.1_Missense_Mutation_p.P107S|RSL1D1_uc010uyw.1_5'UTR|RSL1D1_uc010buw.2_Non-coding_Transcript	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	107					regulation of protein localization|translation	large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GTCTTTTCAGGAGTTGAATTG	0.348000														48			12		0	0	1	0	0
NR1H2	7376	broad.mit.edu	37	19	50881015	50881015	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50881015C>T	uc010enw.3	+	3	538	c.69C>T	c.(67-69)gcC>gcT	p.A23A	NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Silent_p.A23A	NM_007121	NP_009052	P55055	NR1H2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.	23					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.G22G(1)		endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		AGCCTGGCGCCCCTTCTTCTT	0.632000														58			24		0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93615517	93615517	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:93615517G>A	uc003drb.4	-	8	1209	c.868C>T	c.(868-870)Ccc>Tcc	p.P290S	PROS1_uc010hoo.3_Missense_Mutation_p.P159S|PROS1_uc003dqz.4_Missense_Mutation_p.P159S	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	290					leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	AGGTTCAAGGGAAGGCACACT	0.368000														166			36		0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24848321	24848321	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:24848321G>A	uc003neo.1	-	11	1185	c.1009C>T	c.(1009-1011)Cag>Tag	p.Q337*	FAM65B_uc011djs.1_Nonsense_Mutation_p.Q366*|FAM65B_uc011dju.2_Nonsense_Mutation_p.Q371*|FAM65B_uc003nep.3_Nonsense_Mutation_p.Q337*|FAM65B_uc011djt.2_Nonsense_Mutation_p.Q337*	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA.	337					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						ATTCTCCTCTGAAGGGCTGCT	0.517000														23			15		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73206137	73206137	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73206137G>A	uc001jrx.4	+	2	520	c.130G>A	c.(130-132)Gag>Aag	p.E44K	CDH23_uc001jrw.4_Missense_Mutation_p.E44K|CDH23_uc001jry.3_Missense_Mutation_p.E44K|CDH23_uc001jrz.3_Missense_Mutation_p.E44K|CDH23_uc021psl.1_Missense_Mutation_p.E44K|CDH23_uc001jrv.3_Intron|CDH23_uc009xql.3_Missense_Mutation_p.E44K	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	44	Cadherin 1.				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						GCTGATCAGCGAGGACACGCC	0.587000														46			23		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580008	140580008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140580008C>T	uc003liy.3	+	0	661	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	221	Cadherin 2.				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)			TGGGTCCCCTCCCAGGTCTGG	0.512000														100			37		0	0	1	0	0
FAM76A	199870	broad.mit.edu	37	1	28081763	28081763	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:28081763C>T	uc001bor.3	+	7	861	c.759C>T	c.(757-759)gcC>gcT	p.A253A	FAM76A_uc009vtb.3_Silent_p.A219A|FAM76A_uc001boq.3_Silent_p.A219A|FAM76A_uc001bos.3_Silent_p.A224A|FAM76A_uc001bot.3_Silent_p.A190A|FAM76A_uc010ofm.2_Silent_p.A139A	NM_001143912	NP_001137384	Q8TAV0	FA76A_HUMAN	Homo sapiens family with sequence similarity 76, member A (FAM76A), transcript variant 1, mRNA.	219										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCATTGCCCAACTGAAGG	0.403000														129			57		0	0	1	0	0
FAM114A1	92689	broad.mit.edu	37	4	38937369	38937369	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:38937369C>T	uc003gtn.3	+	12	1753	c.1494C>T	c.(1492-1494)gcC>gcT	p.A498A	FAM114A1_uc011byh.2_Silent_p.A291A|FAM114A1_uc010ifi.3_Silent_p.A156A	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	Homo sapiens family with sequence similarity 114, member A1 (FAM114A1), transcript variant 1, mRNA.	498						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						ATGAAGTGGCCTCTTTATCAA	0.323000														73			13		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48607739	48607739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48607739G>A	uc003ctz.2	-	96	7410	c.7409C>T	c.(7408-7410)cCc>cTc	p.P2470L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2470	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCGCCTCGGGGCCCAGGCAG	0.622000														72			23		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333646	70333646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70333646C>T	uc001oqc.3	-	20	2666	c.2554G>A	c.(2554-2556)Ggg>Agg	p.G852R	SHANK2_uc010rqn.2_Missense_Mutation_p.G328R|SHANK2_uc001opz.3_Missense_Mutation_p.G323R|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	539					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding	p.G919R(1)|p.G323R(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTAATCGTCCCGTAGACTCTT	0.607000														23			14		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188210	32188210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32188210G>A	uc003obb.3	-	5	1270	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Silent_p.F377F	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	377	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.F377L(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGAGGCAGGAGAAAGAGCCCA	0.607000														136			37		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20634834	20634834	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20634834G>A	uc002dhm.1	-	12	1776	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.R570W	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	570					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						TCCTTTTTCCGAAGTTCCTTC	0.488000														63			30		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139192923	139192924	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:139192923_139192924GG>AA	uc003leu.1	+	2	606_607	c.401_402GG>AA	c.(400-402)cgg>cAA	p.R134Q		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	134					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.V133L(1)		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)			CCAGATGTGCGGGATGGCTTCA	0.614000														99			25		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66873806	66873806	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:66873806C>T	uc002jhq.3	-	32	4393	c.4053G>A	c.(4051-4053)ggG>ggA	p.G1351G	ABCA8_uc002jhp.3_Silent_p.G1311G|ABCA8_uc010wqq.2_Silent_p.G1346G	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1311	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CTCCACCGCTCCCTTTCAGTA	0.557000														90			31		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71478775	71478775	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:71478775G>A	uc004agu.3	+	4	397	c.92G>A	c.(91-93)gGt>gAt	p.G31D	PIP5K1B_uc011lrq.2_Missense_Mutation_p.G31D|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	31	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GCTATTAAAGGTGCTATTCAG	0.423000														149			36		0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78147847	78147847	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:78147847G>A	uc001ozi.3	-	13	1679	c.1303C>T	c.(1303-1305)Cgt>Tgt	p.R435C	NARS2_uc010rsq.2_Missense_Mutation_p.R208C	NM_024678	NP_001230180	Q96I59	SYNM_HUMAN	Homo sapiens asparaginyl-tRNA synthetase 2, mitochondrial (putative) (NARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	435					asparaginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding	p.R435C(2)|p.R435H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CCAAATCGACGAAGGTCCAGA	0.358000														171			68		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7510075	7510075	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7510075G>A	uc010sge.2	-	18	4343	c.4317C>T	c.(4315-4317)acC>acT	p.T1439T	CD163L1_uc001qsy.3_Silent_p.T1429T	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1429						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.D1439N(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CATGGTTGGGGGTGTCATCTG	0.463000														50			4		0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157803081	157803081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157803081G>A	uc001frk.4	-	4	1083	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	314	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTGAGCAACGAACATTATCC	0.582000														78			38		0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43322721	43322721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:43322721G>A	uc002iin.3	+	21	3030	c.2830G>A	c.(2830-2832)Gag>Aag	p.E944K	FMNL1_uc002iiq.3_Missense_Mutation_p.E522K|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Missense_Mutation_p.E271K|LOC100133991_uc010dah.3_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	944	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GGTGCTCAAGGAGTTCCTGAG	0.632000														39			34		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50058997	50058997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:50058997G>A	uc003jon.4	+	7	621	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	PARP8_uc011cpz.2_Missense_Mutation_p.E39K|PARP8_uc003joo.3_Missense_Mutation_p.E147K|PARP8_uc003jop.3_Missense_Mutation_p.E147K	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	147						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CTATGATGGGGAACTGCACAA	0.418000														40			11		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7623214	7623214	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7623214G>T	uc002giu.1	+	0	176	c.162G>T	c.(160-162)gaG>gaT	p.E54D	DNAH2_uc002git.3_Missense_Mutation_p.E54D|DNAH2_uc010vuk.2_Missense_Mutation_p.E54D	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	54	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCAAGGAGGAGCCTGGTGGGT	0.647000														6			5		3.59834e-05	3.60418e-05	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110530483	110530483	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110530483G>A	uc003yne.3	+	72	11881	c.11777G>A	c.(11776-11778)gGa>gAa	p.G3926E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3926					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TTGGTTAAAGGAACTATACCT	0.373000										HNSCC(38;0.096)				55			30		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43872552	43872552	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:43872552C>T	uc001uza.4	-	11	1676	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q	ENOX1_uc001uzc.4_Missense_Mutation_p.R459Q|ENOX1_uc001uzb.4_Missense_Mutation_p.R459Q	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	459					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.F458F(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TTCTTCTGTTCGGAAAAGCTG	0.478000														110			42		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29886152	29886152	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:29886152G>A	uc003afo.3	+	3	2594	c.2523G>A	c.(2521-2523)aaG>aaA	p.K841K	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	847	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCCAAAGAAGGCAGAGGAAG	0.547000														28			4		0	0	1	0	0
ZNF100	163227	broad.mit.edu	37	19	21909553	21909553	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:21909553C>T	uc002nqi.3	-	4	1760	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	ZNF100_uc002nqh.3_Missense_Mutation_p.D457N	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	Homo sapiens zinc finger protein 100 (ZNF100), mRNA.	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TGGTTAAAGTCTTTACCACAT	0.373000														98			17		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64527218	64527218	+	Missense_Mutation	SNP	C	T	T	rs141560382	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:64527218C>T	uc003dmg.3	-	33	5308	c.5276G>A	c.(5275-5277)aGa>aAa	p.R1759K	ADAMTS9_uc011bfo.2_Missense_Mutation_p.R1731K|ADAMTS9_uc011bfp.1_Missense_Mutation_p.R670K	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1759	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AAGCTTTCCTCTAATCATCAG	0.398000														105			54		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10416277	10416277	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10416277G>A	uc002gmo.3	-	9	905	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	271	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GACTTCTCCAGAAGATCTGCA	0.383000														16			10		0	0	1	0	0
IFNA7	3444	broad.mit.edu	37	9	21201733	21201733	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21201733C>T	uc003zop.1	-	0	472	c.432G>A	c.(430-432)agG>agA	p.R144R	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	Homo sapiens interferon, alpha 7 (IFNA7), mRNA.	144					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGAAGTATTTCCTCACAGCCA	0.448000														337			47		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99658619	99658619	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:99658619C>T	uc010nmz.3	-	1	3867	c.2191G>A	c.(2191-2193)Gga>Aga	p.G731R	PCDH19_uc004efw.4_Intron|PCDH19_uc004efx.4_Intron	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	731					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTGTTTTGTCCTTTTATAAAA	0.428000														4			8		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83331569	83331569	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83331569C>T	uc010uoi.2	-	22	2887	c.2710G>A	c.(2710-2712)Gat>Aat	p.D904N	AP3B2_uc010uoh.2_Missense_Mutation_p.D885N|AP3B2_uc010uoj.2_Missense_Mutation_p.D853N|AP3B2_uc010bmp.3_5'Flank|AP3B2_uc010uog.2_Missense_Mutation_p.D521N	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	885					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			ATGTGGGGATCCCCGGAGAAA	0.622000														15			21		0	0	1	0	0
KCNE3	10008	broad.mit.edu	37	11	74168606	74168606	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:74168606C>T	uc021qng.1	-	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I	KCNE3_uc001ovc.3_Missense_Mutation_p.M1I|KCNE3_uc001ovd.2_Missense_Mutation_p.M1I	NM_005472	NP_005463	Q9Y6H6	KCNE3_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 3 (KCNE3), mRNA.	1						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					TGGTAGTCTCCATAGCAACAG	0.542000														64			19		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739233	38739233	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38739233C>T	uc003ciq.3	-	26	5478	c.5478G>A	c.(5476-5478)gaG>gaA	p.E1826E		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1826					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TAAACTTCTCCTCCATATTTG	0.428000														91			19		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53201524	53201524	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53201524C>T	uc001saz.3	-	6	1472	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	417						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						ACGCAGCATTCGTGCCAGCTC	0.597000														87			62		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322829	55322829	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55322829G>A	uc010rig.2	+	0	1047	c.1047G>A	c.(1045-1047)caG>caA	p.Q349Q		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AAGTAAAACAGGCCATGAGGA	0.328000										HNSCC(20;0.049)				76			33		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47663777	47663777	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47663777C>T	uc003gxm.3	-	11	1779	c.1686G>A	c.(1684-1686)gaG>gaA	p.E562E	CORIN_uc011bzf.2_Silent_p.E423E|CORIN_uc011bzg.2_Silent_p.E495E|CORIN_uc011bzh.1_Silent_p.E525E|CORIN_uc011bzi.1_Silent_p.E525E	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	562	FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CTGAATTTTCCTCTGGAAATT	0.413000														72			25		0	0	1	0	0
NFKBIB	4793	broad.mit.edu	37	19	39396066	39396066	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39396066C>T	uc002ojw.3	+	2	613	c.510C>T	c.(508-510)ccC>ccT	p.P170P	NFKBIB_uc010egk.2_Silent_p.P84P|NFKBIB_uc002ojx.3_Silent_p.P138P|NFKBIB_uc002ojy.3_Silent_p.P170P	NM_002503	NP_001230045	Q15653	IKBB_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta (NFKBIB), transcript variant 1, mRNA.	170					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACCGTACTCCCGACACCAACC	0.657000														64			28		0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57345840	57345840	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57345840G>A	uc001smi.4	-	3	1099	c.927C>T	c.(925-927)gtC>gtT	p.V309V	RDH16_uc009zpa.3_Silent_p.V164V	NM_003708	NP_003699	O75452	RDH16_HUMAN	Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA.	309					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						GGCTTGGAGAGACCCAGTACA	0.547000														44			14		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	628613	628613	+	Missense_Mutation	SNP	G	A	A	rs140444984		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:628613G>A	uc003gap.3	+	1	669	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	PDE6B_uc003gao.4_Missense_Mutation_p.E206K	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	206	GAF 1.				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						CAGCGAAGACGAAGATGTGAG	0.602000														45			19		0	0	1	0	0
BATF	10538	broad.mit.edu	37	14	76013010	76013010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:76013010C>T	uc001xrr.3	+	2	616	c.374C>T	c.(373-375)cCc>cTc	p.P125L		NM_006399	NP_006390	Q16520	BATF_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like (BATF), mRNA.	125						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		CGCTTCCAGCCCTGAGCTTCC	0.697000														13			5		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58134543	58134543	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58134543G>A	uc003djj.2	+	35	6220	c.6055G>A	c.(6055-6057)Gag>Aag	p.E2019K	FLNB_uc010hne.2_Missense_Mutation_p.E2050K|FLNB_uc003djk.2_Missense_Mutation_p.E2008K|FLNB_uc010hnf.2_Missense_Mutation_p.E1995K|FLNB_uc003djl.2_Missense_Mutation_p.E1839K|FLNB_uc003djm.2_Missense_Mutation_p.E1826K|FLNB_uc010hng.1_5'Flank	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2019	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCGGACTTTCGAGATGTCTGA	0.597000														59			23		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2886878	2886878	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2886878C>T	uc022aqr.1	-	50	8208	c.7818G>A	c.(7816-7818)ggG>ggA	p.G2606G	CSMD1_uc011kwj.2_Silent_p.G1936G|CSMD1_uc010lrg.3_Silent_p.G675G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2607	Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTTCCACGTCCCATTGGCCT	0.517000														24			5		0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5141002	5141002	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:5141002G>A	uc001ihr.3	+	3	561	c.378G>A	c.(376-378)gaG>gaA	p.E126E	AKR1C3_uc021pml.1_Silent_p.E126E|AKR1C3_uc010qap.2_Silent_p.E103E|AKR1C3_uc001ihu.3_Silent_p.E126E	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	126					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	AGCCAGGTGAGGAACTTTCAC	0.428000														44			15		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83935804	83935804	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83935804G>A	uc002bjt.1	-	2	307	c.219C>T	c.(217-219)atC>atT	p.I73I	BNC1_uc010uos.1_Silent_p.I61I	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	73					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACATGGGGGGGATCCTTAGCT	0.423000														43			13		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171535411	171535411	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171535411A>G	uc010pmg.2	+	20	6417	c.6151A>G	c.(6151-6153)Act>Gct	p.T2051A	PRRC2C_uc010pmh.2_Missense_Mutation_p.T1028A|PRRC2C_uc010pmi.2_5'UTR	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	2051							protein C-terminus binding										CGAAATTGGAACTGACACAAT	0.373000														22			6		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26839553	26839553	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:26839553G>A	uc001rhg.3	-	10	1426	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	337	MIR 4.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GAAGTTGGAGGGACTCCATCT	0.398000														177			35		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52548200	52548200	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52548200C>T	uc003dej.3	+	32	3591	c.3517C>T	c.(3517-3519)Ctg>Ttg	p.L1173L		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1173	FAS1 4.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAACCGCTCCCTGGAGGCCCA	0.642000														68			18		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47548875	47548875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47548875C>T	uc003gxk.1	+	9	1795	c.1631C>T	c.(1630-1632)cCc>cTc	p.P544L	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.P529L	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	544					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTCAGTAGCCCCATTGTAAGT	0.428000														31			7		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275758	71275758	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71275758G>A	uc003hfi.3	+	2	887	c.713G>A	c.(712-714)aGt>aAt	p.S238N		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	238					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GCCTTTAAAAGTTTTTGGCAA	0.368000														68			25		0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798854	212798854	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:212798854G>A	uc010pth.1	-	0		c.1260C>T			FAM71A_uc001hjk.3_Missense_Mutation_p.G212E			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AACCTTCAAGGAAAGGGGGAT	0.562000														96			38		0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125282013	125282013	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125282013C>T	uc011lyw.2	+	0	594	c.594C>T	c.(592-594)gtC>gtT	p.V198V		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L197L(1)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						ATGAGCTGGTCATTTTCACAG	0.473000														57			30		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739945	62739945	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62739945G>A	uc001dah.4	-	2	1208	c.831C>T	c.(829-831)ttC>ttT	p.F277F	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	277	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AGCCAGGGGTGAACAACACCT	0.542000														15			13		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474538	140474538	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140474538G>A	uc003lil.3	+	0	302	c.164G>A	c.(163-165)gGg>gAg	p.G55E	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	55	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAGACCTGGGGCTGGAGATA	0.512000														64			14		0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100157211	100157211	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:100157211G>A	uc001kpc.3	-	5	602	c.516C>T	c.(514-516)gcC>gcT	p.A172A	PYROXD2_uc001kpb.3_Non-coding_Transcript|PYROXD2_uc010qpe.2_Silent_p.A172A|PYROXD2_uc021pwu.1_5'Flank	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	172							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GAGGGTCAATGGCTAATGCCA	0.587000														55			21		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56387942	56387942	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56387942G>A	uc002ivx.4	-	19	4501	c.3630C>T	c.(3628-3630)gcC>gcT	p.A1210A	BZRAP1_uc010dcs.3_Silent_p.A1150A|BZRAP1_uc010wnt.2_Silent_p.A1210A	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1210						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCGCCTGCTGGGCCCGTGCTC	0.672000														55			21		0	0	1	0	0
IGF1	3479	broad.mit.edu	37	12	102811671	102811671	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:102811671G>A	uc001tjp.4	-	3	732	c.513C>T	c.(511-513)atC>atT	p.I171I	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.	171					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	p.I171M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						TCTTTCCTCTGATCTGCAGAC	0.463000														379			199		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169701980	169701980	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169701980G>A	uc001ggm.4	-	2	354	c.197C>T	c.(196-198)tCa>tTa	p.S66L	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	66	C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ATAACTTGGTGAATAGCTCAA	0.428000														79			23		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38802870	38802870	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38802870C>T	uc003ciq.3	-	5	696	c.696G>A	c.(694-696)ctG>ctA	p.L232L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	232					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAATGACCTTCAGGCCTGCGG	0.512000														37			11		0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57078909	57078909	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:57078909G>A	uc003xsq.4	-	2	1847	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	PLAG1_uc003xsr.4_Missense_Mutation_p.P466S|PLAG1_uc010lyi.3_Missense_Mutation_p.P466S|PLAG1_uc010lyj.3_Missense_Mutation_p.P384S|PLAG1_uc022aur.1_Missense_Mutation_p.P384S	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	466	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GTGTTTGCAGGATCCTGAAGA	0.498000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									165			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438833	179438833	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179438833C>T	uc021vsy.1	-	274	64547	c.64322G>A	c.(64321-64323)aGt>aAt	p.S21441N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S15136N|TTN_uc021vta.1_Missense_Mutation_p.S15069N|TTN_uc021vtb.1_Missense_Mutation_p.S14944N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22368	Fibronectin type-III 55.						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)			AGATGGTGGACTGATGGCACC	0.418000														61			31		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135428894	135428894	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:135428894C>T	uc004ezu.1	+	5	3320	c.3029C>T	c.(3028-3030)cCt>cTt	p.P1010L	GPR112_uc010nsb.1_Missense_Mutation_p.P805L|GPR112_uc010nsc.1_Missense_Mutation_p.P777L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1010					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1010S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCCCTGTGCCTGTTACTCAT	0.507000														52			76		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77764371	77764371	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:77764371G>A	uc003ugx.3	-	16	3252	c.2998C>T	c.(2998-3000)Ctt>Ttt	p.L1000F	MAGI2_uc003ugy.3_Missense_Mutation_p.L986F|MAGI2_uc010ldx.1_Missense_Mutation_p.L593F	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	1000	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGACACTAAGACCTGCATCC	0.537000														66			24		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45711088	45711088	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45711088C>T	uc002zei.2	+	7	1117	c.990C>T	c.(988-990)atC>atT	p.I330I	AIRE_uc010gpq.2_Non-coding_Transcript|AIRE_uc002zej.2_Silent_p.I133I|AIRE_uc010gpr.2_Silent_p.I133I	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	330					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		TCCGGGAGATCCCCAGGTGAG	0.701000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					24			8		0	0	1	0	0
MORN5	254956	broad.mit.edu	37	9	124929162	124929162	+	Missense_Mutation	SNP	G	A	A	rs138145529		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:124929162G>A	uc011lyn.2	+	1	225	c.163G>A	c.(163-165)Gac>Aac	p.D55N	MORN5_uc011lyo.1_Missense_Mutation_p.D55N|MORN5_uc004blw.2_Missense_Mutation_p.D55N	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN	Homo sapiens MORN repeat containing 5 (MORN5), mRNA.	55										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						AAGCCAATACGACGCCATTTG	0.537000														34			5		0	0	1	0	0
LRRC39	127495	broad.mit.edu	37	1	100620727	100620727	+	Missense_Mutation	SNP	C	T	T	rs142389687	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:100620727C>T	uc001dsw.1	-	7	891	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	LRRC39_uc001dsx.1_Missense_Mutation_p.R231Q|LRRC39_uc001dsy.1_Missense_Mutation_p.R231Q|LRRC39_uc001dsz.1_Missense_Mutation_p.R231Q	NM_144620	NP_653221	Q96DD0	LRC39_HUMAN	Homo sapiens leucine rich repeat containing 39 (LRRC39), transcript variant 3, mRNA.	231										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TATTTCATTTCGTTGCAGCCA	0.308000														68			9		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28659862	28659862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28659862C>T	uc002kwl.4	-	10	2068	c.1614G>A	c.(1612-1614)gaG>gaA	p.E538E	DSC2_uc002kwk.4_Silent_p.E538E	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	538	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTTTGATGGTCTCTGCCTCTC	0.388000														229			19		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	654295	654295	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:654295G>A	uc003gap.3	+	11	1560	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	PDE6B_uc003gao.4_Missense_Mutation_p.E503K|PDE6B_uc011buy.2_Missense_Mutation_p.E224K	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	503					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						TGACATCTACGAATTCCACTT	0.572000														38			7		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588020	247588020	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247588020G>A	uc001icr.3	+	4	1413	c.1275G>A	c.(1273-1275)caG>caA	p.Q425Q	NLRP3_uc001ics.3_Silent_p.Q425Q|NLRP3_uc001icu.3_Silent_p.Q425Q|NLRP3_uc001icw.3_Silent_p.Q425Q|NLRP3_uc001icv.3_Silent_p.Q425Q|NLRP3_uc010pyw.2_Silent_p.Q423Q|NLRP3_uc001ict.1_Silent_p.Q423Q	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	425	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGAAACAGCAGATGGAGAGTG	0.587000														59			24		0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60711215	60711215	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60711215C>T	uc001nqn.2	-	2	1176	c.942G>A	c.(940-942)gtG>gtA	p.V314V	SLC15A3_uc001nqo.2_Silent_p.V314V	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	314					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GCAAGATCTTCACCAGCACCT	0.617000														14			5		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1457560	1457560	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1457560C>T	uc002qwr.3	+	5	663	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.P193S|TPO_uc002qwx.3_Missense_Mutation_p.P193S|TPO_uc002qwu.3_Missense_Mutation_p.P193S|TPO_uc010yio.2_Missense_Mutation_p.P193S|TPO_uc010yip.2_Missense_Mutation_p.P193S	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	193					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.P193P(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGGCTGGAACCCCGGCTTCTT	0.612000														68			15		0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133488412	133488412	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:133488412C>T	uc004bzr.1	+	4	452	c.344C>T	c.(343-345)tCa>tTa	p.S115L	FUBP3_uc010mzd.1_Missense_Mutation_p.S55L	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA.	115	KH 1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CAGATTGCTTCAGGTAAGGGC	0.373000														42			24		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666919	12666919	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:12666919C>T	uc002gno.2	+	13	3218	c.2919C>T	c.(2917-2919)ctC>ctT	p.L973L	MYOCD_uc002gnn.2_Silent_p.L925L|MYOCD_uc002gnq.2_Silent_p.L649L	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	925					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCACTGATCTCAATTTGAATT	0.522000														31			14		0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	404911	404911	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:404911C>T	uc001qif.1	-	25	4646	c.4283G>A	c.(4282-4284)cGa>cAa	p.R1428Q	KDM5A_uc021qsr.1_5'UTR	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1428					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						TTCCAAACTTCGGGGCACCAA	0.448000			T	NUP98	AML									119			58		0	0	1	0	0
AQP8	343	broad.mit.edu	37	16	25228723	25228723	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:25228723G>A	uc002doc.3	+	1	299	c.217G>A	c.(217-219)Ggg>Agg	p.G73R		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	73					cellular response to cAMP	integral to plasma membrane	water channel activity	p.H72H(1)		NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CCTGGCCCACGGGCTGGCTTT	0.607000														197			12		0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97339584	97339584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:97339584C>T	uc001tew.3	+	12	1935	c.1789C>T	c.(1789-1791)Cgt>Tgt	p.R597C	NEDD1_uc001teu.4_Missense_Mutation_p.R590C|NEDD1_uc001tev.4_Missense_Mutation_p.R590C|NEDD1_uc010svc.2_Missense_Mutation_p.R501C|NEDD1_uc001tex.3_Missense_Mutation_p.R501C	NM_001135175	NP_001128649	Q8NHV4	NEDD1_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA.	590					G2/M transition of mitotic cell cycle|cell division|mitosis	cytosol		p.R590C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CATTCAAATTCGTTTTATTCA	0.373000														54			33		0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60637186	60637186	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60637186C>T	uc001nqd.3	+	2	515	c.495C>T	c.(493-495)ctC>ctT	p.L165L	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	165					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TTTCCTTCCTCCCCACCTCTG	0.617000														33			16		0	0	1	0	0
GALNT4	8693	broad.mit.edu	37	12	89916702	89916703	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:89916702_89916703GG>AA	uc001tbd.3	-	0	1881_1882	c.1624_1625CC>TT	c.(1624-1626)cca>TTa	p.P542L	GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Missense_Mutation_p.P539L|GALNT4_uc010suo.2_Missense_Mutation_p.P370L	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA.	542	Ricin B-type lectin.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						TCCTGAGTGTGGGTGAAAAATA	0.401000														78			8		0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17462284	17462284	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:17462284G>A	uc002wpm.3	+	11	1840	c.1486G>A	c.(1486-1488)Ggg>Agg	p.G496R	PCSK2_uc002wpl.3_Missense_Mutation_p.G477R|PCSK2_uc010zrm.2_Missense_Mutation_p.G461R|PCSK2_uc002wpn.3_Missense_Mutation_p.G150R	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	496					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGCCTGTGAGGGGAAGGAAAA	0.522000														86			24		0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966524	2966524	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:2966524G>A	uc021tns.1	-	0	378	c.378C>T	c.(376-378)acC>acT	p.T126T		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						GGGGGCAGCAGGTGGCCACAT	0.582000														37			22		0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15706608	15706608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:15706608G>A	uc002ddr.3	-	16	3487	c.3280C>T	c.(3280-3282)Cct>Tct	p.P1094S	KIAA0430_uc002ddq.3_Missense_Mutation_p.P928S|KIAA0430_uc010uzv.2_Missense_Mutation_p.P1091S|KIAA0430_uc010uzw.2_Missense_Mutation_p.P1094S	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1093						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTACCTACAGGACTCTTCGAA	0.463000														156			50		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55224589	55224589	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55224589C>T	uc002qgs.1	+	0		c.4989C>T			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		CTTGGTCCACCATCCCCAGCC	0.612000														37			12		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108818274	108818274	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108818274C>T	uc003dxl.3	-	5	441	c.354G>A	c.(352-354)acG>acA	p.T118T	MORC1_uc011bhn.2_Silent_p.T118T	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	118					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.T118T(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTCCTTCTTCGTAAAAAGAA	0.343000														38			22		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68950492	68950492	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:68950492C>T	uc003xxv.1	+	6	831	c.804C>T	c.(802-804)ttC>ttT	p.F268F	PREX2_uc003xxu.1_Silent_p.F268F|PREX2_uc011lez.1_Silent_p.F203F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	268	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.F268F(3)|p.L267F(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTTTCTTTTCGATAATCTTT	0.413000														54			24		0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49411641	49411641	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:49411641G>A	uc002efr.3	+	2	194	c.151_splice	c.e2-1	p.K51_splice		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	51										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TGTCTTTTCAGAAGCAAAAGC	0.562000														11			6		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2855607	2855607	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2855607T>A	uc022aqr.1	-	53	8693	c.8303A>T	c.(8302-8304)tAt>tTt	p.Y2768F	CSMD1_uc011kwj.2_Missense_Mutation_p.Y2098F|CSMD1_uc010lrg.3_Missense_Mutation_p.Y779F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2769	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGCAGCAAATAGCCCGTGTT	0.567000														60			13		0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107230086	107230086	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:107230086G>A	uc010ilv.2	-	1	397	c.32C>T	c.(31-33)gCc>gTc	p.A11V	TBCK_uc003hye.2_Missense_Mutation_p.A11V|TBCK_uc003hyc.2_Missense_Mutation_p.A11V|TBCK_uc003hyd.2_5'UTR|TBCK_uc003hyf.2_Missense_Mutation_p.A11V	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	11	Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						GAAGGTAAAGGCTCCCATTTC	0.428000														38			20		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38531036	38531037	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38531036_38531037GG>AA	uc003auy.1	-	5	988_989	c.852_853CC>TT	c.(850-855)ccccgt>ccTTgt	p.R285C	PLA2G6_uc003auz.1_Missense_Mutation_p.R285C|PLA2G6_uc003ava.1_Missense_Mutation_p.R285C|PLA2G6_uc003avb.2_Missense_Mutation_p.R285C|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc011ano.1_Missense_Mutation_p.R250C	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	285					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GCTCCGTAACGGGGGTCTTTGC	0.658000														59			20		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72152307	72152307	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:72152307C>T	uc001xms.3	+	9	3694	c.3333C>T	c.(3331-3333)atC>atT	p.I1111I	SIPA1L1_uc001xmt.3_Silent_p.I1111I|SIPA1L1_uc001xmu.3_Silent_p.I1111I|SIPA1L1_uc001xmv.3_Silent_p.I1111I|SIPA1L1_uc010ttm.2_Silent_p.I586I	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1111					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCGCCAACATCCCTCGAAGCA	0.557000														47			18		0	0	1	0	0
NBPF7	343505	broad.mit.edu	37	1	120381888	120381888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:120381888C>T	uc010oxk.2	-	4	1378	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	253	NBPF 1.					cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		ACTTTGTCTTCCTCAGATGTG	0.443000														187			87		0	0	1	0	0
XCL2	6846	broad.mit.edu	37	1	168511246	168511246	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:168511246G>A	uc001gfn.4	-	1	194	c.161C>T	c.(160-162)tCc>tTc	p.S54F		NM_003175	NP_003166	Q9UBD3	XCL2_HUMAN	Homo sapiens chemokine (C motif) ligand 2 (XCL2), mRNA.	54					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					TGCTCTCAAGGAGCCTTCCGT	0.512000														49			25		0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49633259	49633259	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49633259C>T	uc002pmr.3	+	5	924	c.592C>T	c.(592-594)Ctt>Ttt	p.L198F	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc010emt.3_Missense_Mutation_p.L122F|PPFIA3_uc010yaj.1_Non-coding_Transcript|PPFIA3_uc002pms.3_Missense_Mutation_p.L66F	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	198						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GACTCTGAACCTTCGAGAACA	0.597000														55			6		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41758327	41758327	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41758327C>T	uc010ehj.3	+	14	1973	c.1783C>T	c.(1783-1785)Ccc>Tcc	p.P595S	AXL_uc010ehk.3_Missense_Mutation_p.P586S	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	595	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.C595C(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ATTTGACCATCCCAACGTCAT	0.567000														58			20		0	0	1	0	0
ABHD2	11057	broad.mit.edu	37	15	89738534	89738534	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89738534C>T	uc002bnj.2	+	14	2076	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	ABHD2_uc002bnk.2_Silent_p.F386F	NM_007011	NP_690888	P08910	ABHD2_HUMAN	Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA.	386						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					CTGTGCTGTTCCCCGAGCCCC	0.572000														80			22		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274047	10274047	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:10274047C>T	uc010uym.2	-	2	532	c.222G>A	c.(220-222)atG>atA	p.M74I	GRIN2A_uc002czo.4_Missense_Mutation_p.M74I|GRIN2A_uc002czr.4_Missense_Mutation_p.M74I|GRIN2A_uc010buk.3_Missense_Mutation_p.M74I	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	74					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGGTGCGGTTCATCAGCAGAG	0.662000														91			45		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170663	207170663	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:207170663G>A	uc002vbp.2	+	4	1661	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	471							nucleic acid binding|zinc ion binding	p.E471*(3)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GATTGTTAAAGAAATAAGTCT	0.333000														28			12		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96790332	96790332	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:96790332G>A	uc001yfi.3	-	15	2806	c.2441C>T	c.(2440-2442)tCg>tTg	p.S814L		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	814										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTCCTGGAACGATCCTAAAAA	0.398000														43			12		0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233410375	233410375	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233410375G>A	uc002vsx.1	+	11	1524	c.1503G>A	c.(1501-1503)ccG>ccA	p.P501P	CHRNG_uc010fye.1_Silent_p.P449P	NM_005199	NP_005190	P07510	ACHG_HUMAN	Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.	501					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		ACCGGGTGCCGGCCCTGCCAT	0.632000														75			8		0	0	1	0	0
FAM81A	145773	broad.mit.edu	37	15	59799517	59799517	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:59799517G>A	uc002agc.2	+	4	706	c.519G>A	c.(517-519)acG>acA	p.T173T		NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN	Homo sapiens family with sequence similarity 81, member A (FAM81A), mRNA.	173										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						TCTTGGAAACGAAAATCAAAG	0.433000														23			4		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104042572	104042572	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:104042572G>A	uc001tjw.3	+	9	1331	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	382	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAATGGCAAGGAAGGCTGACC	0.443000														83			38		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123256123	123256123	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:123256123C>T	uc021pzz.1	-	12	2433	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	FGFR2_uc021pzv.1_Missense_Mutation_p.E484K|FGFR2_uc021pzw.1_Missense_Mutation_p.E481K|FGFR2_uc021pzx.1_Missense_Mutation_p.E507K|FGFR2_uc021pzy.1_Missense_Mutation_p.E597K|FGFR2_uc010qtl.2_Missense_Mutation_p.E480K|FGFR2_uc010qtm.2_Missense_Mutation_p.E479K|FGFR2_uc021qaa.1_Missense_Mutation_p.E597K|FGFR2_uc021qab.1_Missense_Mutation_p.E508K|FGFR2_uc021qac.1_Missense_Mutation_p.E525K|FGFR2_uc001lfg.4_Missense_Mutation_p.E204K	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	596	Protein kinase.				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)	GTCATCTGCTCCTCAGGAACA	0.517000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					223			90		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808591	8808591	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8808591C>T	uc002mkl.2	-	0	582	c.461G>A	c.(460-462)aGc>aAc	p.S154N		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	154						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						GGTGGCCGGGCTGAAGGGTGG	0.672000														56			20		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35700677	35700677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35700677C>T	uc003jjo.3	+	15	2332	c.2221C>T	c.(2221-2223)Ctt>Ttt	p.L741F	SPEF2_uc003jjq.4_Missense_Mutation_p.L736F|SPEF2_uc003jjp.1_Missense_Mutation_p.L227F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	741					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAGAAGCTCTTACAGGCTG	0.398000														61			20		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671554	39671554	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:39671554C>T	uc021wjc.1	+	0	371	c.371C>T	c.(370-372)tCc>tTc	p.S124F	KCNJ15_uc002ywv.3_Missense_Mutation_p.S124F|KCNJ15_uc002yww.3_Missense_Mutation_p.S124F|KCNJ15_uc002ywx.3_Missense_Mutation_p.S124F	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	124					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TCCCTGGAATCCCAGACAACC	0.498000														101			31		0	0	1	0	0
TTTY11	83866	broad.mit.edu	37	Y	8657192	8657192	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:8657192C>T	uc004frk.2	-	2		c.273G>A								Homo sapiens testis-specific transcript, Y-linked 11 (non-protein coding) (TTTY11), non-coding RNA.																		TGCCAATGTTCTCATGACCAC	0.433000														13			10		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27197330	27197330	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:27197330G>A	uc011lno.2	+	10	1955	c.1513G>A	c.(1513-1515)Ggt>Agt	p.G505S	TEK_uc003zqi.4_Missense_Mutation_p.G548S|TEK_uc011lnp.2_Missense_Mutation_p.G401S|TEK_uc003zqj.1_Missense_Mutation_p.G482S|5S_rRNA_uc022bex.1_5'Flank	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	548	Fibronectin type-III 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCCTCCAAGAGGTCTAAATCT	0.398000														86			32		0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22676877	22676877	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:22676877G>A	uc001iri.3	+	5	971	c.804G>A	c.(802-804)aaG>aaA	p.K268K	SPAG6_uc010qct.2_Silent_p.K243K|SPAG6_uc009xkh.3_Silent_p.K246K|SPAG6_uc001irj.3_Silent_p.K268K|SPAG6_uc021poe.1_Intron	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	268					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AATACGTGAAGAAAAATGCTT	0.358000														40			19		0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111154975	111154975	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:111154975C>T	uc001plc.3	+	2	329	c.182C>T	c.(181-183)cCc>cTc	p.P61L		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	61										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CCCTACTTCCCCCAGGAGCCC	0.667000														86			44		0	0	1	0	0
FAM116A	201627	broad.mit.edu	37	3	57631445	57631445	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:57631445G>A	uc003dja.3	-	10	1051	c.980C>T	c.(979-981)cCt>cTt	p.P327L		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	327										breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		AGTGAAATAAGGTCGGAAATC	0.338000														96			8		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28828806	28828806	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:28828806G>A	uc002rmb.2	+	41	3092	c.3048G>A	c.(3046-3048)tgG>tgA	p.W1016*	PLB1_uc010ezj.2_Nonsense_Mutation_p.W1005*|PLB1_uc002rme.2_Intron	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1016	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAGCCCTTTGGACCAATATGG	0.522000														141			58		0	0	1	0	0
PROK1	84432	broad.mit.edu	37	1	110998924	110998924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110998924C>T	uc001dzs.3	+	2	320	c.269C>T	c.(268-270)cCg>cTg	p.P90L		NM_032414	NP_115790	P58294	PROK1_HUMAN	Homo sapiens prokineticin 1 (PROK1), mRNA.	90					angiogenesis|positive regulation of cell division	extracellular region	growth factor activity	p.F89F(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCCAGGTTCCCGGACGGCAGG	0.542000														69			30		0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155720365	155720365	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155720365C>T	uc003ioo.3	+	3	1224	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S	RBM46_uc011cim.1_Missense_Mutation_p.P351S|RBM46_uc003iop.1_Missense_Mutation_p.P351S	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	351							RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GCCAACTCTTCCTGCTCGTCT	0.423000														73			37		0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124239059	124239059	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124239059C>T	uc001ufr.3	+	17	2516	c.2268C>T	c.(2266-2268)ctC>ctT	p.L756L		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	756					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ACCTGAGGCTCTGGGCGCTTA	0.507000														59			13		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187209716	187209716	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187209716C>T	uc003iza.1	+	14	2159	c.1826C>T	c.(1825-1827)aCc>aTc	p.T609I	LOC285441_uc003izb.2_Non-coding_Transcript	NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	609	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	p.Y608H(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GGTGTTTACACCAACGTGGTC	0.567000														72			11		0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16735650	16735650	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16735650C>T	uc001ayn.3	-	6	1119	c.636G>A	c.(634-636)gaG>gaA	p.E212E	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Silent_p.E189E	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	212							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)		CCTCGGACTTCTCCCGGTTTT	0.612000														54			24		0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2025692	2025692	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2025692C>T	uc002cnu.1	+	9	1070	c.968C>T	c.(967-969)tCc>tTc	p.S323F	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Missense_Mutation_p.S209F|TBL3_uc010bsc.1_Missense_Mutation_p.S209F|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	323					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GAGGCTCGCTCCCTGCGGCTG	0.667000														44			11		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922608	37922608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:37922608G>A	uc002hsu.3	-	7	1027	c.965C>T	c.(964-966)cCc>cTc	p.P322L	IKZF3_uc002htd.3_Missense_Mutation_p.P288L|IKZF3_uc010cwd.3_Missense_Mutation_p.P179L|IKZF3_uc002hsv.3_Missense_Mutation_p.P249L|IKZF3_uc010cwe.3_Missense_Mutation_p.P188L|IKZF3_uc010cwf.3_Missense_Mutation_p.P140L|IKZF3_uc010cwg.3_Missense_Mutation_p.P101L|IKZF3_uc002hsw.3_Missense_Mutation_p.P283L|IKZF3_uc002hsx.3_Missense_Mutation_p.P266L|IKZF3_uc002hsy.3_Missense_Mutation_p.P283L|IKZF3_uc002hsz.3_Missense_Mutation_p.P227L|IKZF3_uc002hta.3_Missense_Mutation_p.P244L|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.P235L|IKZF3_uc002htc.3_Missense_Mutation_p.P75L|IKZF3_uc010wel.2_Missense_Mutation_p.P75L	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	322					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGGACCAAGGGGCGCAGGGC	0.557000														39			31		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62763577	62763577	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62763577G>A	uc009yon.3	-	5	930	c.809C>T	c.(808-810)tCg>tTg	p.S270L	SLC22A8_uc001nwn.1_Missense_Mutation_p.S61L|SLC22A8_uc009yom.3_Missense_Mutation_p.S147L|SLC22A8_uc001nwo.3_Missense_Mutation_p.S270L|SLC22A8_uc010rmm.2_Missense_Mutation_p.S179L|SLC22A8_uc001nwp.2_Missense_Mutation_p.S270L	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	270					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CAGGGCCTTCGAGGACTTTCC	0.577000														84			31		0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77569557	77569557	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:77569557C>T	uc003ugs.4	+	12	1804	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	PHTF2_uc003ugp.3_Missense_Mutation_p.R522C|PHTF2_uc010ldv.3_Missense_Mutation_p.R522C|PHTF2_uc003ugq.4_Missense_Mutation_p.R522C|PHTF2_uc003ugt.4_Missense_Mutation_p.R526C|PHTF2_uc003ugu.4_Missense_Mutation_p.R522C|PHTF2_uc022agp.1_Missense_Mutation_p.R560C|PHTF2_uc010ldw.2_Missense_Mutation_p.R342C	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TTTTGTGGTTCGCGTGTCTCT	0.338000														94			33		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154158558	154158558	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:154158558C>T	uc004fmt.3	-	13	3678	c.3507G>A	c.(3505-3507)gtG>gtA	p.V1169V		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1169	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCCTACTACCACTTTGTTTT	0.403000														31			54		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128444	6128444	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6128444G>A	uc001qnn.1	-	27	4390	c.4140C>T	c.(4138-4140)atC>atT	p.I1380I	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1380	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	p.R1379C(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGAGCAGGGTGATGCGGGAGG	0.582000														62			15		0	0	1	0	0
RAMP1	10267	broad.mit.edu	37	2	238820283	238820283	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:238820283G>A	uc002vxj.3	+	2	437	c.305G>A	c.(304-306)aGg>aAg	p.R102K		NM_005855	NP_005846	O60894	RAMP1_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 1 (RAMP1), mRNA.	102					intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	CGCTACTTCAGGAGCTGCCCC	0.657000														40			18		0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75761170	75761170	+	Silent	SNP	G	A	A	rs137863856	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:75761170G>A	uc002bal.3	-	12	2230	c.1722C>T	c.(1720-1722)ttC>ttT	p.F574F		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	574	Tyrosine-protein phosphatase.					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						CCTTCTCTGCGAACTCCAGGA	0.542000														148			35		0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120101930	120101930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:120101930G>A	uc003yoo.3	+	1	257	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	54	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			AGATGATGGTGAAAAAGGAGA	0.413000														37			15		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69027999	69027999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:69027999C>T	uc003xxv.1	+	25	3185	c.3158C>T	c.(3157-3159)tCa>tTa	p.S1053L		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1053					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.S1052F(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTTCTGTCTTCAATAACATAT	0.338000														43			7		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21730468	21730468	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:21730468G>A	uc003svc.3	+	35	6062	c.6031G>A	c.(6031-6033)Gaa>Aaa	p.E2011K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2011	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGTCGAACCGAATTACCGGA	0.413000									Kartagener syndrome					195			31		0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93015448	93015449	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:93015448_93015449GG>AA	uc002brc.1	+	0	542_543	c.70_71GG>AA	c.(70-72)ggg>AAg	p.G24K	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	24								p.G24G(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			GAGTGGGGAAGGGGTCCCACCT	0.535000														97			20		0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40944253	40944253	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40944253C>T	uc010bbs.1	+	21	6604	c.6443C>T	c.(6442-6444)aCc>aTc	p.T2148I	CASC5_uc010bbt.1_Missense_Mutation_p.T2122I	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	2148	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GCTGTATTCACCTTTGTTTAT	0.358000														61			12		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70526179	70526179	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:70526179G>A	uc002lkw.3	-	3	635	c.351C>T	c.(349-351)ttC>ttT	p.F117F	NETO1_uc002lky.2_Silent_p.F117F|NETO1_uc002lkz.3_Silent_p.F116F	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	117	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GTTGTCCACAGAAACGTCCAA	0.378000														73			28		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247608109	247608109	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247608109C>T	uc001icr.3	+	9	3135	c.2997C>T	c.(2995-2997)ctC>ctT	p.L999L	NLRP3_uc001ics.3_Silent_p.L942L|NLRP3_uc001icu.3_Silent_p.L999L|NLRP3_uc001icw.3_Silent_p.L942L|NLRP3_uc001icv.3_Silent_p.L885L|NLRP3_uc010pyw.2_Silent_p.L977L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	999					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGAGCTGCCTCCTGCAGAACC	0.567000														47			5		0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46609673	46609673	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:46609673C>T	uc002ruv.3	+	14	2907	c.2397C>T	c.(2395-2397)ttC>ttT	p.F799F	EPAS1_uc002ruw.3_Silent_p.F265F	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	799					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGAGCAGGTTCCCCCCACAGT	0.637000														84			24		0	0	1	0	0
CTSC	1075	broad.mit.edu	37	11	88027614	88027614	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:88027614C>T	uc001pck.4	-	6	1053	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	CTSC_uc001pcl.4_Missense_Mutation_p.E170K	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	318					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAAGCTTCTTCCACCAGCCCA	0.463000														77			16		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140356050	140356050	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140356050G>A	uc010ncj.1	-	32	4116	c.3779C>T	c.(3778-3780)tCc>tTc	p.S1260F	PNPLA7_uc004cnd.1_Missense_Mutation_p.S482F|PNPLA7_uc004cne.1_Missense_Mutation_p.S501F|PNPLA7_uc011mfa.1_Missense_Mutation_p.S643F|PNPLA7_uc004cnf.2_Missense_Mutation_p.S1235F|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1235					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTCCGTGAAGGAGGCGTTGGG	0.652000														33			8		0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	18004539	18004539	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18004539C>T	uc002nhr.4	+	14	2132	c.1785C>T	c.(1783-1785)ccC>ccT	p.P595P		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	595					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AAGAACTCCCCACTGGAAACA	0.582000														32			10		0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176304662	176304662	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176304662G>A	uc003mey.3	+	9	1785	c.1593G>A	c.(1591-1593)tgG>tgA	p.W531*		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	531	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGACAGCTGGAGCCTGCGCC	0.647000														37			11		0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	514923	514923	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:514923C>T	uc003gak.4	+	6	1329	c.1193C>T	c.(1192-1194)tCa>tTa	p.S398L	PIGG_uc003gaj.4_Missense_Mutation_p.S398L|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Missense_Mutation_p.S265L|PIGG_uc003gal.4_Missense_Mutation_p.S309L|PIGG_uc011buw.2_Missense_Mutation_p.S276L|PIGG_uc003gam.3_Intron|PIGG_uc003gan.3_Missense_Mutation_p.S309L	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	398					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	p.S398S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GAAAAGCATTCAGAAGTCCTA	0.473000														87			33		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640889	3640889	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3640889G>A	uc002cvp.2	-	11	3377	c.2750C>T	c.(2749-2751)gCc>gTc	p.A917V		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	917	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCAGGTGGTGGCGGCCTCATC	0.652000								Direct reversal of damage						117			29		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735313	54735313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:54735313G>A	uc003pck.3	+	1	385	c.269G>A	c.(268-270)gGg>gAg	p.G90E		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	90										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTATCTTCAGGGACCTACTGG	0.443000														147			30		0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028226	102028226	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:102028226G>A	uc021sdx.1	+	0	539	c.393G>A	c.(391-393)gaG>gaA	p.E131E	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	105					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				AGGCGCACGAGGGCGGTCCGG	0.647000														58			38		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139876656	139876656	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:139876656C>T	uc003lfs.2	+	14	2951	c.2797C>T	c.(2797-2799)Cca>Tca	p.P933S	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.P952S|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.P933S|ANKHD1-EIF4EBP3_uc003lft.1_Intron|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.P413S|ANKHD1-EIF4EBP3_uc003lfv.1_Intron	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	933						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTATCATCTCCACAGTGTAA	0.398000														170			60		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3511920	3511920	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3511920C>T	uc001akl.3	-	2	585	c.358G>A	c.(358-360)Gag>Aag	p.E120K		NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	120	EMI.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CAGCCCTCCTCGTCGGGCTGC	0.662000														57			21		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777046	18777046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:18777046C>T	uc003zne.4	+	18	2971	c.2819C>T	c.(2818-2820)tCg>tTg	p.S940L		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	940	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTCAAGCCCTCGGATGCAGGC	0.652000														82			12		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204587210	204587210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204587210G>A	uc021phy.1	-	0	1911	c.1911C>T	c.(1909-1911)ctC>ctT	p.L637L	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Silent_p.L637L|LRRN2_uc001hbf.1_Silent_p.L637L|LRRN2_uc009xbf.1_Silent_p.L637L|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	637					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GAAGGACAGCGAGAGCCAGGA	0.647000														23			12		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42341730	42341730	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42341730C>T	uc002xlb.1	+	11	2023	c.1808C>T	c.(1807-1809)cCc>cTc	p.P603L	MYBL2_uc010zwj.1_Missense_Mutation_p.P579L	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	603						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCCACACTGCCCAAGTCTCTA	0.527000														16			11		0	0	1	0	0
GATA5	140628	broad.mit.edu	37	20	61040427	61040427	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61040427G>A	uc002ycx.1	-	5	1069	c.1007C>T	c.(1006-1008)cCa>cTa	p.P336L		NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	Homo sapiens GATA binding protein 5 (GATA5), mRNA.	336					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			AGGGCACACTGGGGACGCCAG	0.672000														19			7		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78647111	78647111	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:78647111G>A	uc001jxn.3	-	27	3801	c.3624C>T	c.(3622-3624)tcC>tcT	p.S1208S	KCNMA1_uc021ptu.1_Silent_p.S1100S|KCNMA1_uc001jxj.2_Silent_p.S1154S|KCNMA1_uc001jxk.1_Silent_p.S826S|KCNMA1_uc009xrt.1_Silent_p.S999S|KCNMA1_uc001jxl.1_Silent_p.S833S|KCNMA1_uc001jxo.3_Silent_p.S1191S|KCNMA1_uc001jxm.3_Silent_p.S1150S|KCNMA1_uc001jxq.3_Silent_p.S1180S|BC030624_uc001jxp.3_5'Flank	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1208					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGGATGGGATGGAGTGAACAG	0.572000														131			25		0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228247937	228247937	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228247937C>G	uc001hrp.2	+	4	1197	c.1090C>G	c.(1090-1092)Cag>Gag	p.Q364E	WNT3A_uc001hrq.2_3'UTR	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	0					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TTCAGCCCACCAGCCACCTCA	0.637000														77			32		0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54777751	54777751	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:54777751G>A	uc004dtj.2	-	11	3445	c.3415C>T	c.(3415-3417)Cgc>Tgc	p.R1139C		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	1139					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AAGTAGGTGCGAGTCTGGTCC	0.592000														25			20		0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46986807	46986807	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:46986807C>T	uc021vgx.1	+	0	1138	c.1138C>T	c.(1138-1140)Ccc>Tcc	p.P380S	SOCS5_uc002rvf.3_Missense_Mutation_p.P380S|SOCS5_uc002rvg.3_Missense_Mutation_p.P380S	NM_144949	NP_659198	O75159	SOCS5_HUMAN	Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA.	380					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of T-helper 2 cell differentiation|negative regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TACAGGGAATCCCTGTTACTG	0.498000														50			17		0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46306935	46306935	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46306935G>A	uc003cpl.2	+	2	1416	c.385G>A	c.(385-387)Ggg>Agg	p.G129R	CCR3_uc003cpg.2_Missense_Mutation_p.G96R|CCR3_uc003cpk.2_Missense_Mutation_p.G117R|CCR3_uc003cpi.2_Missense_Mutation_p.G96R|CCR3_uc010hjb.2_Missense_Mutation_p.G114R|CCR3_uc003cpj.2_Missense_Mutation_p.G96R|CCR3_uc021wwz.1_Missense_Mutation_p.G96R	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	96					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CTATGTCAGGGGGCATAACTG	0.493000														217			87		0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56233261	56233261	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56233261G>A	uc010wno.2	+	0	747	c.747G>A	c.(745-747)atG>atA	p.M249I	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M249I(2)		kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGGTGTCCATGATCTTCATTC	0.522000														78			11		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44934018	44934018	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44934018C>T	uc002oze.1	-	5	1372	c.938G>A	c.(937-939)aGa>aAa	p.R313K	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.R307K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGTGGGAACTCTTTGATGTCT	0.507000														38			7		0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138633391	138633391	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:138633391G>A	uc004fas.1	+	5	720	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	F9_uc004fat.1_Missense_Mutation_p.E193K	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	231	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGTTGGTGGAGAAGATGCCAA	0.453000														23			41		0	0	1	0	0
LAMP1	3916	broad.mit.edu	37	13	113973849	113973850	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:113973849_113973850CC>TT	uc001vtm.1	+	4	909_910	c.628_629CC>TT	c.(628-630)ccc>TTc	p.P210F	LAMP1_uc010tka.1_Missense_Mutation_p.P157F	NM_005561	NP_005552	P11279	LAMP1_HUMAN	Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA.	210	Hinge.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CAGCCCCTCGCCCTCACCCGTG	0.653000														52			16		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641153	57641153	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57641153G>A	uc002qny.3	+	3	1466	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	USP29_uc021vci.1_Silent_p.Q370Q	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	370					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			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)		GCAACATGCAGAATGATGCTC	0.358000														85			35		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94145923	94145923	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:94145923G>A	uc011cdt.2	+	6	1380	c.1122G>A	c.(1120-1122)aaG>aaA	p.K374K	GRID2_uc011cdu.2_Silent_p.K279K|GRID2_uc010ikz.1_Silent_p.K55K	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	374					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGACCATCAAGAAGGTAACTT	0.383000														41			16		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169756	57169756	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57169756G>A	uc001cyk.4	+	6	972	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	301					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	p.E301D(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TGAAAAATTTGAATGTACAGA	0.373000														232			15		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42028729	42028729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42028729C>T	uc010ucy.2	+	12	4448	c.4267C>T	c.(4267-4269)Cct>Tct	p.P1423S	MGA_uc010ucz.2_Missense_Mutation_p.P1423S|MGA_uc010uda.1_Intron	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1423						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCCATTGTCCCCTGGGAAAAT	0.463000														33			16		0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14568910	14568910	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:14568910C>T	uc002myp.3	+	7	1401	c.1233C>T	c.(1231-1233)ggC>ggT	p.G411G	PKN1_uc002myq.3_Silent_p.G417G	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	411	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						AGCCATGTGGCCCCAATGCCT	0.577000														200			43		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34026758	34026758	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:34026758G>A	uc003oir.4	-	3	1383	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	GRM4_uc011dsn.2_Silent_p.S340S|GRM4_uc010jvh.3_Silent_p.S340S|GRM4_uc010jvi.3_Silent_p.S32S|GRM4_uc003oio.3_Silent_p.S32S|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.S200S|GRM4_uc003oiq.3_Silent_p.S207S|GRM4_uc011dsm.2_Silent_p.S171S	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	340					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TACCTCGTACGGACATCCTCT	0.632000														24			7		0	0	1	0	0
C20orf118	140711	broad.mit.edu	37	20	35506332	35506332	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:35506332G>A	uc002xgg.1	+	1	72	c.64G>A	c.(64-66)Gag>Aag	p.E22K	C20orf118_uc021wcz.1_Missense_Mutation_p.E22K	NM_080628	NP_542195	A0PJX2	CT118_HUMAN	Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA.	22										kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	9		Myeloproliferative disorder(115;0.00874)				CCTGTCTggggaggagggtaa	0.622000														76			10		0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188228210	188228210	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:188228210T>A	uc010frt.3	-	7	903	c.520A>T	c.(520-522)Att>Ttt	p.I174F	CALCRL_uc002upv.4_Missense_Mutation_p.I174F	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	174						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGTAAGGTAATCCTTTGGCAA	0.353000														81			20		0	0	1	0	0
SMAD7	4092	broad.mit.edu	37	18	46447991	46447991	+	Silent	SNP	G	A	A	rs143946125	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:46447991G>A	uc002ldg.3	-	3	1319	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S	SMAD7_uc002ldf.3_Silent_p.S156S|SMAD7_uc010xde.2_Silent_p.S129S|SMAD7_uc021ujr.1_Silent_p.S343S	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	344	MH2.				BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					CCAGTGTGGCGGACTTGATGA	0.582000														29			13		0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102904439	102904439	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:102904439C>T	uc001ylw.2	+	9	2701	c.2475C>T	c.(2473-2475)tgC>tgT	p.C825C	TECPR2_uc010awl.3_Silent_p.C825C|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	825							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ATATCTGGTGCCTGGACTACA	0.597000											OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		146			51		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8181592	8181592	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8181592G>A	uc002mjf.3	-	27	3695	c.3678C>T	c.(3676-3678)ggC>ggT	p.G1226G		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1226	EGF-like 17.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGCCATGAAGCCATCATAGC	0.627000														109			14		0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28136867	28136867	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:28136867G>A	uc001url.4	-	4	1216	c.907C>T	c.(907-909)Ctt>Ttt	p.L303F	LNX2_uc001urm.1_Missense_Mutation_p.L303F	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	303	PDZ 1.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GGCTGGGAAAGGACAGCTCGG	0.453000														127			9		0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171118	214171118	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:214171118G>A	uc001hkh.3	+	1	1512	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	PROX1_uc001hkg.1_Missense_Mutation_p.D414N	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	414					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GTGCTTTGGCGACGTCATCAT	0.562000														112			22		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70956739	70956739	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70956739G>A	uc001swb.4	-	13	3429	c.3399C>T	c.(3397-3399)gaC>gaT	p.D1133D	PTPRB_uc010sto.2_Silent_p.D1043D|PTPRB_uc010stp.2_Silent_p.D1043D|PTPRB_uc001swc.4_Silent_p.D1351D|PTPRB_uc001swa.4_Silent_p.D1263D|PTPRB_uc001swd.4_Silent_p.D1350D|PTPRB_uc009zrr.2_Silent_p.D1230D	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1133	Fibronectin type-III 13.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGACTAGTGGGTCAACTTGAG	0.498000														75			17		0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46942907	46942907	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:46942907G>A	uc010acl.3	-	3	1184	c.579C>T	c.(577-579)ttC>ttT	p.F193F	KIAA0226L_uc001vbf.4_Silent_p.F126F|KIAA0226L_uc010tfz.2_Silent_p.F36F|KIAA0226L_uc010acn.3_5'UTR|KIAA0226L_uc010acm.3_Silent_p.F58F|KIAA0226L_uc001vbe.4_Silent_p.F193F|KIAA0226L_uc001vbh.4_Silent_p.F193F|KIAA0226L_uc001vbi.4_Silent_p.F36F|KIAA0226L_uc010aco.1_Silent_p.F193F	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	193										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CCTCTGGTGAGAAGGAATTCG	0.358000														119			42		0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121187759	121187759	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:121187759C>T	uc003kss.3	+	0	110	c.101C>T	c.(100-102)cCg>cTg	p.P34L		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	34					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CGTTGGGCCCCGGGGCGCCCC	0.766000														16			11		0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35339031	35339031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:35339031C>T	uc001mwd.3	-	1	642	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	SLC1A2_uc021qfx.1_Missense_Mutation_p.R8Q|SLC1A2_uc001mwe.3_Missense_Mutation_p.R8Q|SLC1A2_uc010rev.1_Missense_Mutation_p.R17Q|SLC1A2_uc021qfy.1_Missense_Mutation_p.R62Q	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	17					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GTCGTGCATTCGCACTTCCAC	0.567000														117			88		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52549277	52549277	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:52549277G>A	uc001vfw.2	-	1	236	c.79C>T	c.(79-81)Cgt>Tgt	p.R27C	ATP7B_uc001vfy.2_Missense_Mutation_p.R27C|ATP7B_uc010adv.2_Missense_Mutation_p.R27C|ATP7B_uc001vfx.2_Missense_Mutation_p.R27C|ATP7B_uc010tgt.1_Missense_Mutation_p.R27C|ATP7B_uc010tgu.1_Missense_Mutation_p.R27C|ATP7B_uc010tgv.1_Missense_Mutation_p.R27C|ATP7B_uc010tgw.1_5'UTR	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	27					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)		TCCCAGGCACGGGTAGGCAAA	0.428000									Wilson disease					45			16		0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112031331	112031331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:112031331C>T	uc001ebf.3	-	2	1540	c.773G>A	c.(772-774)gGa>gAa	p.G258E	ADORA3_uc001ebg.4_Missense_Mutation_p.G177E	NM_020683	NP_065734	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 1, mRNA.	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GGCCAGGGTTCCTTTGTCGTC	0.537000														40			8		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96745889	96745889	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96745889G>A	uc001kka.4	+	7	1274	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S	CYP2C9_uc009xut.3_Missense_Mutation_p.G415S	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	417			G -> D.		exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GGATGAAGGTGGCAATTTTAA	0.363000														109			54		0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23731413	23731413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:23731413G>A	uc002wtp.3	-	0	162	c.91C>T	c.(91-93)Ccg>Tcg	p.P31S		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	31			P -> L (in dbSNP:rs2070856).			extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					ATGCCACCCGGGATTATCCTA	0.562000														51			5		0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18762339	18762339	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:18762339C>T	uc001mpd.3	-	8	1157	c.726_splice	c.e8-1	p.R242_splice	PTPN5_uc001mpb.3_Splice_Site_p.R210_splice|PTPN5_uc001mpc.3_Splice_Site_p.R242_splice|PTPN5_uc010rdj.2_Splice_Site_p.R186_splice|PTPN5_uc001mpf.3_Splice_Site_p.R218_splice|PTPN5_uc001mpe.3_Splice_Site_p.R210_splice|PTPN5_uc010rdk.2_Splice_Site_p.R187_splice	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	242						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						TGGAACCCCTCCTGGAAGGAC	0.627000														30			9		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60886272	60886272	+	Missense_Mutation	SNP	C	T	T	rs112963711	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:60886272C>T	uc002ycq.3	-	72	10101	c.10034G>A	c.(10033-10035)gGt>gAt	p.G3345D	LAMA5_uc021wfw.1_Missense_Mutation_p.G3345D	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3345	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACAGGGAACCCCCAAACTG	0.701000														52			14		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74468459	74468459	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74468459C>A	uc002axg.1	+	1	1542	c.1260C>A	c.(1258-1260)ctC>ctA	p.L420L	ISLR_uc002axh.1_Silent_p.L420L|ISLR_uc021sqf.1_Silent_p.L420L	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	420					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						AAAGCCTCCTCCTCTTCTTCT	0.637000														31			34		9.17885e-22	9.23189e-22	1	1	0
PRIC285	85441	broad.mit.edu	37	20	62192276	62192276	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62192276G>A	uc002yfm.2	-	15	8045	c.7153C>T	c.(7153-7155)Ctt>Ttt	p.L2385F	PRIC285_uc002yfl.1_Missense_Mutation_p.L1816F	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2385					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TCTCCGAGAAGAACCACCTGG	0.642000														99			17		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25266961	25266961	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25266961C>T	uc010aaa.3	+	9	1655	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	ATP12A_uc001upp.3_Missense_Mutation_p.S435F	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	435					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ACTTGGGCCTCCTTATCCAAG	0.493000														267			63		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9009273	9009273	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9009273G>A	uc002mkp.3	-	39	39404	c.39200C>T	c.(39199-39201)tCt>tTt	p.S13067F	MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13069	SEA 7.				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						TCACCTGAGAGAGATCAGTCT	0.507000														72			24		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832220	61832220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61832220C>T	uc001jky.3	-	36	8757	c.8419G>A	c.(8419-8421)Gat>Aat	p.D2807N	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.	2807					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						TTCACATTATCAGAGCCAGAA	0.373000														78			36		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140718804	140718804	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140718804G>A	uc003ljk.2	+	0	451	c.266G>A	c.(265-267)aGg>aAg	p.R89K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.R89K	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	89	Cadherin 1.				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)			ACTGCGAACAGGATAGACCGG	0.547000														103			20		0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49667581	49667581	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:49667581C>T	uc003ozn.2	-	5	443	c.207G>A	c.(205-207)acG>acA	p.T69T	CRISP2_uc003ozr.2_Silent_p.T69T|CRISP2_uc003ozo.2_Silent_p.T69T|CRISP2_uc003ozm.2_Silent_p.T69T|CRISP2_uc003ozp.2_Silent_p.T69T|CRISP2_uc003ozq.2_Silent_p.T69T|CRISP2_uc003ozl.2_Silent_p.T69T	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	69						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTTGGGCATTCGTTGTTACCT	0.343000														41			26		0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87457444	87457444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:87457444G>A	uc002fjz.1	-	3	428	c.401C>T	c.(400-402)tCc>tTc	p.S134F	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_5'UTR	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	134					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CACTTCAGAGGAAGATTTGGT	0.368000														61			31		0	0	1	0	0
RSAD1	55316	broad.mit.edu	37	17	48559733	48559733	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48559733C>T	uc002iqw.1	+	3	812	c.756C>T	c.(754-756)ctC>ctT	p.L252L	RSAD1_uc010wmq.1_Non-coding_Transcript	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 1 (RSAD1), mRNA.	252					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			ACCCGGAGCTCGCAGCTGAGA	0.647000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		79			19		0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96178115	96178115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:96178115G>A	uc001yfc.4	-	2	452	c.322C>T	c.(322-324)Ctc>Ttc	p.L108F	TCL1A_uc001yfb.4_Missense_Mutation_p.L108F	NM_001098725	NP_068801	P56279	TCL1A_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA.	108					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		AGCAGCTCGAGAAGCATGTCC	0.562000			T	TRA@	T-CLL									19			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209452	140209452	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140209452G>A	uc003lho.2	+	0	1803	c.1776G>A	c.(1774-1776)gcG>gcA	p.A592A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.A592A	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	605					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)			AAGTGGTGGCGAAGGTGCGCG	0.687000														97			27		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53207919	53207919	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53207919C>T	uc001saz.3	-	0	146	c.146G>A	c.(145-147)cGa>cAa	p.R49Q		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	0						keratin filament	structural molecule activity	p.R49P(2)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCTCAGCCTTCGTCTCTTATA	0.567000														44			6		0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796745	62796745	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62796745G>A	uc002jew.4	-	5	1206	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	PLEKHM1P_uc002jev.3_Non-coding_Transcript|PLEKHM1P_uc010wqe.1_Silent_p.L99L					Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene (PLEKHM1P), non-coding RNA.																		ACCTTCTGCAGGGCCTCCCGC	0.667000														43			10		0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16059904	16059904	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16059904C>T	uc010xov.2	+	0	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CCATCTTGTTCCTGCTGTACC	0.483000														245			96		0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150647458	150647458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150647458C>T	uc003wic.3	-	8	2597	c.2196G>A	c.(2194-2196)ctG>ctA	p.L732L	KCNH2_uc003wib.3_Silent_p.L392L|KCNH2_uc011kux.2_Silent_p.L636L|KCNH2_uc003wid.3_Silent_p.L392L|KCNH2_uc003wie.3_Silent_p.L732L	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	732					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTGAGCGGTTCAGGTGCAGGC	0.657000														55			28		0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54159206	54159206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:54159206G>A	uc002rxp.2	-	9	1138	c.1082C>T	c.(1081-1083)cCa>cTa	p.P361L	PSME4_uc010yop.1_Missense_Mutation_p.P247L|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Missense_Mutation_p.P346L	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	361					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AACACTGTTTGGCAACCGCTG	0.423000														173			16		0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108919967	108919967	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:108919967A>G	uc001tmz.1	-	15	2514	c.2279T>C	c.(2278-2280)cTt>cCt	p.L760P	SART3_uc001tmy.1_Missense_Mutation_p.L286P|SART3_uc009zux.1_Missense_Mutation_p.L372P|SART3_uc010swx.1_Missense_Mutation_p.L724P|SART3_uc010swy.1_Missense_Mutation_p.L646P|SART3_uc010swz.1_3'UTR	NM_014706	NP_055521	Q15020	SART3_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells 3 (SART3), mRNA.	760	RRM 1.				RNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CAGTGCCTGAAGGGCTGATTT	0.507000									Porokeratosis					139			16		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57734081	57734081	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:57734081C>T	uc002emi.3	+	3	492	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	CCDC135_uc002emj.3_Missense_Mutation_p.P135S|CCDC135_uc002emk.3_Missense_Mutation_p.P135S	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	135						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AACCCTCCGGCCCACACTGAT	0.572000														151			69		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584932	82584932	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82584932C>T	uc003uhx.2	-	4	5626	c.5337G>A	c.(5335-5337)ttG>ttA	p.L1779L	PCLO_uc003uhv.2_Silent_p.L1779L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1710					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						CTTCCTCTCTCAATTCTTCTT	0.393000														86			39		0	0	1	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177317	89177317	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:89177317C>T	uc022bzr.1	+	0	233	c.233C>T	c.(232-234)cCt>cTt	p.P78L	TGIF2LX_uc004efe.3_Missense_Mutation_p.P78L	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	78						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P78S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AAGGCCTACCCTTCAGAAGAA	0.478000														37			72		0	0	1	0	0
DEFB1	1672	broad.mit.edu	37	8	6728337	6728337	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:6728337G>A	uc003wqs.2	-	1	223	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F		NM_005218	NP_005209	P60022	DEFB1_HUMAN	Homo sapiens defensin, beta 1 (DEFB1), mRNA.	25					G-protein coupled receptor protein signaling pathway|chemotaxis|defense response to bacterium|innate immune response	extracellular region				lung(1)	1			STAD - Stomach adenocarcinoma(24;0.0984)	COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.128)		AGGCCTGTGAGAAAGTTACCA	0.468000														35			12		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45945563	45945563	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45945563A>G	uc002zfe.1	-	7	1375	c.1309T>C	c.(1309-1311)Ttc>Ctc	p.F437L	TSPEAR_uc010gpv.1_Missense_Mutation_p.F369L	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	437					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ACCGCCAGGAAGTGCTCCCCA	0.602000														119			47		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179553422	179553422	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179553422C>T	uc021vsy.1	-	122	28672	c.28447G>A	c.(28447-28449)Gaa>Aaa	p.E9483K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6144K|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10410							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)			CGCGTGACTTCCACTCTTTGA	0.388000														53			34		0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180338371	180338372	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:180338371_180338372GG>AA	uc003mmp.3	+	2	664_665	c.430_431GG>AA	c.(430-432)gga>AAa	p.G144K	BTNL8_uc003mmq.3_Missense_Mutation_p.G144K|BTNL8_uc010jll.3_Missense_Mutation_p.G144K|BTNL8_uc011dhg.2_Missense_Mutation_p.G19K|BTNL8_uc010jlm.3_Missense_Mutation_p.G28K|BTNL8_uc011dhh.2_5'UTR	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	144	Ig-like V-type 2.					integral to membrane		p.T143T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCATCACGGGATATGTTGAT	0.525000														404			38		0	0	1	0	0
MT1F	4494	broad.mit.edu	37	16	56693046	56693046	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:56693046G>A	uc002ejt.3	+	2	272	c.156G>A	c.(154-156)ggG>ggA	p.G52G		NM_005949	NP_005940	P04733	MT1F_HUMAN	Homo sapiens metallothionein 1F (MT1F), mRNA.	52	Alpha.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										TTTGCAAAGGGGCGTCAGAGA	0.527000														153			10		0	0	1	0	0
WISP2	8839	broad.mit.edu	37	20	43355922	43355922	+	Missense_Mutation	SNP	C	T	T	rs144332553	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43355922C>T	uc002xmp.3	+	3	874	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	LOC79015_uc002xml.1_Intron|WISP2_uc002xmq.3_Silent_p.V160V	NM_003881	NP_003872	O76076	WISP2_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 2 (WISP2), mRNA.	243					cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CTCCAGGGGTCGCAGTCCACA	0.682000														32			9		0	0	1	0	0
MKKS	8195	broad.mit.edu	37	20	10393713	10393713	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:10393713G>A	uc002wnt.1	-	2	1337	c.450C>T	c.(448-450)ctC>ctT	p.L150L	MKKS_uc002wnu.1_Silent_p.L150L|MKKS_uc010zrd.1_Intron	NM_018848	NP_740754	Q9NPJ1	MKKS_HUMAN	Homo sapiens McKusick-Kaufman syndrome (MKKS), transcript variant 1, mRNA.	150					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						CCAAACAAAGGAGGATCTGAG	0.408000														83			34		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174955	63174955	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:63174955G>A	uc001xfx.3	-	10	2289	c.2238C>T	c.(2236-2238)tcC>tcT	p.S746S	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	746					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTCCGGTGATGGAGGCTCCAT	0.537000														86			7		0	0	1	0	0
ISYNA1	51477	broad.mit.edu	37	19	18547253	18547253	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18547253A>T	uc002njd.2	-	5	864	c.646T>A	c.(646-648)Tct>Act	p.S216T	ISYNA1_uc002nja.2_Missense_Mutation_p.S88T|ISYNA1_uc002njb.2_Missense_Mutation_p.S134T|ISYNA1_uc002njc.2_Missense_Mutation_p.S66T|ISYNA1_uc010xqh.2_Missense_Mutation_p.S14T|ISYNA1_uc002nje.2_Missense_Mutation_p.S162T	NM_016368	NP_001164410	Q9NPH2	INO1_HUMAN	Homo sapiens inositol-3-phosphate synthase 1 (ISYNA1), transcript variant 1, mRNA.	216					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						CCCGCGCTAGACCGGAAGTCT	0.587000														95			39		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48413782	48413782	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48413782G>A	uc001jfa.1	-	1	1246	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	362					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CAGCCAAGGGGAAGAAGCAGC	0.582000														51			19		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36036035	36036035	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:36036035G>A	uc003jjz.2	-	6	1469	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	UGT3A2_uc011cos.2_Missense_Mutation_p.S412F|UGT3A2_uc011cot.2_Missense_Mutation_p.S144F	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	446						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGCGGGTGGGAGCGCAGGAT	0.587000														38			10		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37164388	37164388	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:37164388G>A	uc011cpa.1	-	36	7806	c.7575C>T	c.(7573-7575)ttC>ttT	p.F2525F	C5orf42_uc011coy.1_Silent_p.F1025F|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.F1600F	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2525								p.F1405F(1)|p.F2525F(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AAGGAACGTCGAAGTCATCCA	0.318000														69			34		0	0	1	0	0
KIF12	113220	broad.mit.edu	37	9	116858451	116858451	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116858451G>A	uc004bif.3	-	5	599	c.361C>T	c.(361-363)Cct>Tct	p.P121S	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	254	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CCACCAACAGGGGGCTCCCCA	0.597000														55			7		0	0	1	0	0
CD247	919	broad.mit.edu	37	1	167487664	167487664	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167487664C>T	uc001gei.4	-	0	184	c.39G>A	c.(37-39)caG>caA	p.Q13Q	CD247_uc001gej.4_Silent_p.Q13Q|CD247_uc001gek.2_Silent_p.Q13Q	NM_198053	NP_932170	P20963	CD3Z_HUMAN	Homo sapiens CD247 molecule (CD247), transcript variant 1, mRNA.	13					T cell costimulation|T cell receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			GCAACTGTGCCTGCAGGATGG	0.597000														71			6		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645535	45645535	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:45645535C>T	uc003jok.3	-	1	626	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	201						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GAACTGTCTTCATTGACAGTC	0.388000														77			27		0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33875446	33875446	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33875446G>A	uc021wck.1	-	3	1254	c.1136C>T	c.(1135-1137)tCg>tTg	p.S379L	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	379										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACCCAGGGACGAGGACACCAC	0.632000														25			11		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77282723	77282723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77282723G>A	uc004aji.3	+	7	1099	c.1050G>A	c.(1048-1050)gtG>gtA	p.V350V	RORB_uc004ajh.3_Silent_p.V339V	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	350	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.V339V(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ATGACCTAGTGAATGAAGCAT	0.383000														72			33		0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161821579	161821579	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161821579C>T	uc001gbs.3	+	10	1504	c.1387C>T	c.(1387-1389)Cct>Tct	p.P463S	ATF6_uc001gbq.2_Missense_Mutation_p.P463S	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	463	Poly-Pro.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GCTTTACATTCCTCCACCTCC	0.398000														200			77		0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94915077	94915077	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94915077C>T	uc001ydd.1	-	1	95	c.35G>A	c.(34-36)gGg>gAg	p.G12E		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	12					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GGCCAGGATCCCTGTTCCCAG	0.522000														91			30		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128498132	128498132	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128498132C>T	uc003vnz.4	+	46	8060	c.7851C>T	c.(7849-7851)tcC>tcT	p.S2617S	FLNC_uc003voa.4_Silent_p.S2584S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2617	Hinge 2.|Interaction with INPPL1.|Self-association site, tail (By similarity).				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGACCAAGTCCTCCTCAAGCC	0.637000														23			7		0	0	1	0	0
C19orf33	64073	broad.mit.edu	37	19	38795318	38795318	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38795318G>A	uc002ohu.1	+	2	291	c.193G>A	c.(193-195)Gat>Aat	p.D65N	YIF1B_uc002ohw.2_3'UTR|YIF1B_uc002ohx.2_3'UTR|YIF1B_uc010xtx.1_3'UTR|YIF1B_uc010xty.1_3'UTR|YIF1B_uc002oia.2_3'UTR|YIF1B_uc002ohy.2_3'UTR|YIF1B_uc002ohz.2_3'UTR|C19orf33_uc002ohv.1_Silent_p.R84R	NM_033520	NP_277055	Q9GZP8	IMUP_HUMAN	Homo sapiens chromosome 19 open reading frame 33 (C19orf33), mRNA.	65						nucleus						all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TTCGGACACGGATGTGAAGGT	0.692000														32			17		0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080338	5080338	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5080338G>A	uc010qyw.2	-	0	520	c.520C>T	c.(520-522)Cat>Tat	p.H174Y		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GGAATTACATGATTCCCACAG	0.403000														32			12		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156815774	156815774	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156815774C>T	uc010pht.2	-	8	2247	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	650	Fibronectin type-III 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGTAGAGGTCGCCGTCCTCT	0.706000														26			15		0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112145801	112145801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:112145801G>A	uc004bed.2	-	22	2396	c.2284C>T	c.(2284-2286)Ccc>Tcc	p.P762S	PTPN3_uc004beb.2_Missense_Mutation_p.P631S|PTPN3_uc004bec.2_Missense_Mutation_p.P586S|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.P717S|PTPN3_uc011lwh.1_Missense_Mutation_p.P608S|PTPN3_uc011lwd.1_Missense_Mutation_p.P230S|PTPN3_uc011lwe.1_Missense_Mutation_p.P475S|PTPN3_uc011lwf.1_Missense_Mutation_p.P430S	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	762	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ATGACGTCGGGGGGATCTGGC	0.557000														92			21		0	0	1	0	0
DEFB118	117285	broad.mit.edu	37	20	29960755	29960755	+	Nonsense_Mutation	SNP	C	T	T	rs34328728		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:29960755C>T	uc002wvr.3	+	1	187	c.154C>T	c.(154-156)Cga>Tga	p.R52*		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Homo sapiens defensin, beta 118 (DEFB118), mRNA.	52					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAAAAATCTTCGAGCTTGCTG	0.438000														80			40		0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146256503	146256503	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:146256503G>C	uc003qlf.3	-	11	3043	c.2644C>G	c.(2644-2646)Cgg>Ggg	p.R882G	SHPRH_uc003qle.3_Missense_Mutation_p.R882G|SHPRH_uc003qlg.1_Missense_Mutation_p.R438G|SHPRH_uc003qlj.1_Missense_Mutation_p.R771G|SHPRH_uc003qlh.3_5'Flank	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	882					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CAGTAAGGCCGATAGAGAAGT	0.393000														29			27		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220356557	220356557	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220356557G>A	uc010fwg.3	+	38	9427	c.9427G>A	c.(9427-9429)Gac>Aac	p.D3143N		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	3143	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTCTGCCACGGACATCTGGGG	0.622000														27			10		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43896592	43896592	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:43896592C>T	uc001uza.4	-	10	1489	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	ENOX1_uc001uzc.4_Missense_Mutation_p.E397K|ENOX1_uc001uzb.4_Missense_Mutation_p.E397K|ENOX1_uc010tfm.1_Missense_Mutation_p.E210K	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	397					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		ATTTCTTCTTCGCGGCGGATG	0.478000														58			30		0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33313498	33313498	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:33313498C>T	uc003tdn.1	+	8	1459	c.946C>T	c.(946-948)Caa>Taa	p.Q316*	BBS9_uc003tdo.1_Nonsense_Mutation_p.Q316*|BBS9_uc003tdp.1_Nonsense_Mutation_p.Q316*|BBS9_uc003tdq.1_Nonsense_Mutation_p.Q316*|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc011kan.1_Nonsense_Mutation_p.Q316*|BBS9_uc011kao.1_Nonsense_Mutation_p.Q194*	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	316					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCATATTTATCAAGATGTGAC	0.353000									Bardet-Biedl syndrome					37			19		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13098373	13098373	+	Splice_Site	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:13098373G>T	uc002wod.1	+	8	1441	c.1152_splice	c.e8+1	p.K384_splice		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	384					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TGGAAGGAAGGTAAGAGAGGG	0.483000														71			13		9.31168e-06	9.32878e-06	1	1	0
FAM171A1	221061	broad.mit.edu	37	10	15255485	15255485	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15255485G>A	uc001iob.3	-	7	2109	c.2102C>T	c.(2101-2103)cCg>cTg	p.P701L		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	701						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTGCGGAAGCGGCTTCCCACC	0.577000														84			31		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026783	79026783	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:79026783C>T	uc003kgc.3	+	1	2267	c.2195C>T	c.(2194-2196)cCa>cTa	p.P732L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	732						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TACATGATTCCATCAGAAGAG	0.448000														69			24		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2164218	2164218	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2164218G>A	uc002cos.1	-	10	3015	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.R936C	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	936	PKD 4.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGCGTGGCGCGGAGGCCACAG	0.697000														30			9		0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86919144	86919144	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:86919144T>C	uc001dlr.4	+	12	2410	c.2248T>C	c.(2248-2250)Ttt>Ctt	p.F750L		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	750					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGGAGGCTCCTTTTCAGTGCT	0.488000														110			7		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226080	23226080	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23226080G>A	uc002dlm.1	+	11	1680	c.1541G>A	c.(1540-1542)aGa>aAa	p.R514K		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	514					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CTGAACCAGAGATCCATCATG	0.502000														37			18		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166032863	166032863	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166032863G>A	uc002ucx.3	-	2	534	c.42C>T	c.(40-42)ttC>ttT	p.F14F	SCN3A_uc002ucy.3_Silent_p.F14F|SCN3A_uc002ucz.3_Silent_p.F14F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	14						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.F14F(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TAAAAAGGCGGAAGCTTTCAG	0.428000														124			24		0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414089	20414089	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:20414089G>A	uc003zoe.2	-	4	1014	c.755C>T	c.(754-756)gCc>gTc	p.A252V	MLLT3_uc011lne.1_Missense_Mutation_p.A220V|MLLT3_uc011lnf.1_Missense_Mutation_p.A249V|MLLT3_uc003zof.3_Missense_Mutation_p.A53V|MIR4473_uc022bdy.1_5'Flank	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TTCCTTGAAGGCCATCTTAGG	0.403000			T	MLL	ALL									211			108		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34640205	34640205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34640205C>T	uc010ucc.2	+	2	518	c.136C>T	c.(136-138)Cct>Tct	p.P46S	C15orf55_uc010ucd.2_Missense_Mutation_p.P36S|C15orf55_uc001zif.3_Missense_Mutation_p.P18S	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	18	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GAGCATGAAACCTAGTGCCGC	0.532000			T	"""BRD3, BRD4"""	lethal midline carcinoma									69			13		0	0	1	0	0
SERPINF1	5176	broad.mit.edu	37	17	1674335	1674335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:1674335G>A	uc002ftl.3	+	3	453	c.296G>A	c.(295-297)cGa>cAa	p.R99Q		NM_002615	NP_002606	P36955	PEDF_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 (SERPINF1), mRNA.	99					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GCGGAGCAGCGAACAGAATCC	0.542000														52			56		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42113243	42113243	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42113243C>T	uc001zok.4	+	23	2999	c.2713C>T	c.(2713-2715)Ctt>Ttt	p.L905F	MAPKBP1_uc010bci.3_Missense_Mutation_p.L899F|MAPKBP1_uc010udb.2_Missense_Mutation_p.L738F|MAPKBP1_uc001zoj.4_Missense_Mutation_p.L899F|MAPKBP1_uc010bcj.3_Missense_Mutation_p.L406F|MAPKBP1_uc010bck.3_Missense_Mutation_p.L116F|MAPKBP1_uc010bcl.3_Missense_Mutation_p.L406F	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	905										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCAGGAGGCCCTTGAGACTTC	0.612000														72			15		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254667	51254667	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:51254667C>T	uc021vhh.1	-	0	1666	c.745G>A	c.(745-747)Ggc>Agc	p.G249S	NRXN1_uc021vhg.1_Missense_Mutation_p.G249S|NRXN1_uc021vhi.1_Missense_Mutation_p.G249S|NRXN1_uc021vhj.1_Missense_Mutation_p.G249S|NRXN1_uc021vhk.1_Missense_Mutation_p.G249S	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	249	EGF-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCGCGGAAGCCGGTTCGCGAG	0.756000														28			9		0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44635928	44635928	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:44635928G>A	uc003cnl.1	+	2	576	c.243G>A	c.(241-243)aaG>aaA	p.K81K	ZNF660_uc021wwp.1_Silent_p.K81K	NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	Homo sapiens zinc finger protein 660 (ZNF660), mRNA.	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		ATAAGTGTAAGGAGTGTGGAA	0.448000														80			24		0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	7026910	7026910	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:7026910C>T	uc011bwg.2	+	12	2016	c.1937C>T	c.(1936-1938)cCc>cTc	p.P646L	TBC1D14_uc003gjs.4_Missense_Mutation_p.P646L|TBC1D14_uc010idh.3_Missense_Mutation_p.P366L|TBC1D14_uc011bwh.2_Missense_Mutation_p.P293L|TBC1D14_uc003gju.4_Missense_Mutation_p.P137L	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	646						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						ACCCGGCTGCCCGAGGACCTG	0.597000														55			29		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50592458	50592458	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:50592458G>A	uc002lfe.2	+	6	1799	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	DCC_uc010xdr.1_Missense_Mutation_p.E243K|DCC_uc010dpf.2_Missense_Mutation_p.E50K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	395	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAAGTCAGATGAAGGCTTTTA	0.443000														190			12		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53617456	53617456	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:53617456G>A	uc004dsp.3	-	34	4501	c.4099C>T	c.(4099-4101)Ctc>Ttc	p.L1367F	HUWE1_uc004dsn.3_Missense_Mutation_p.L192F	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1367					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.T1367P(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GACATGCTGAGATCCTAGAGT	0.438000														54			11		0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83221249	83221249	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83221249C>T	uc002bit.3	-	7	1513	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q	CPEB1_uc002bir.3_Missense_Mutation_p.R324Q|CPEB1_uc002bis.3_Missense_Mutation_p.R319Q|CPEB1_uc010uod.2_Missense_Mutation_p.R168Q|CPEB1_uc002biq.3_Missense_Mutation_p.R319Q|CPEB1_uc010uoe.2_Missense_Mutation_p.R397Q|CPEB1_uc002biu.3_Missense_Mutation_p.R421Q|CPEB1_uc010uof.2_Missense_Mutation_p.R319Q|CPEB1_uc002biv.3_Missense_Mutation_p.R394Q|CPEB1_uc002bip.3_Missense_Mutation_p.R168Q	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	399	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCGCATCCTTCGGCTGGACAT	0.502000														77			7		0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19822367	19822367	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19822367G>A	uc002nnk.1	-	3	1877	c.1723C>T	c.(1723-1725)Cga>Tga	p.R575*		NM_021030	NP_066358	P17017	ZNF14_HUMAN	Homo sapiens zinc finger protein 14 (ZNF14), mRNA.	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R575*(2)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCATGCATTCGAAATTTACTG	0.403000														64			24		0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153541044	153541044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:153541044C>T	uc004fkg.3	+	5	970	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	TKTL1_uc011mzl.2_Missense_Mutation_p.P256S|TKTL1_uc011mzm.2_Intron|TKTL1_uc004fkh.3_Missense_Mutation_p.P206S	NM_012253	NP_001139406	P51854	TKTL1_HUMAN	Homo sapiens transketolase-like 1 (TKTL1), transcript variant 1, mRNA.	262					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGACCCACAGCCCCCCATTGA	0.468000														27			36		0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22006104	22006104	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:22006104G>A	uc003xav.3	-	7	1505	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	LGI3_uc010ltu.3_Missense_Mutation_p.R382C	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	406					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TTCTGGGTGCGACTCCACTGA	0.622000														28			10		0	0	1	0	0
LHX2	9355	broad.mit.edu	37	9	126794954	126794955	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:126794954_126794955CC>TT	uc010mwi.1	+	4	1952_1953	c.1213_1214CC>TT	c.(1213-1215)ccc>TTc	p.P405F	LHX2_uc004boe.1_Missense_Mutation_p.P397F	NM_004789	NP_004780	P50458	LHX2_HUMAN	Homo sapiens LIM homeobox 2 (LHX2), mRNA.	397				GHEPHSPSQTTLTNLF -> AMSLTAPHKRLLPTFSNDSQP PHPTISLKKKLSLV (in Ref. 1; AAB08752).		nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						GCCTCACAGCCCCTCACAAACG	0.490000														61			23		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888670	38888670	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38888670C>T	uc021wvy.1	-	25	5090	c.4891G>A	c.(4891-4893)Gaa>Aaa	p.E1631K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1631					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1631K(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCAAACTTTTCCCACACTTCA	0.408000														139			42		0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156351651	156351651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156351651G>A	uc010pho.2	+	5	933	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	RHBG_uc010phm.1_Missense_Mutation_p.E137K|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Missense_Mutation_p.E230K|RHBG_uc009wrz.3_Missense_Mutation_p.E267K|RHBG_uc001for.3_Missense_Mutation_p.E269K	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	299					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GACCTCAAGTGAAATGATGCT	0.557000														66			24		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58209161	58209161	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:58209161G>A	uc001vhq.1	+	0	3373	c.2481G>A	c.(2479-2481)caG>caA	p.Q827Q	PCDH17_uc010aec.1_Silent_p.Q827Q	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	827					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTGTCCCTCAGGGGCACGCGG	0.602000														30			13		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78321852	78321852	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:78321852C>T	uc002jyh.2	+	29	10007	c.9864C>T	c.(9862-9864)ccC>ccT	p.P3288P	RNF213_uc021uen.1_Silent_p.P3239P	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGCAGGGTCCCCGGGCCTTGA	0.617000														49			17		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130883776	130883776	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:130883776G>A	uc003kvn.2	-	5	665	c.459C>T	c.(457-459)acC>acT	p.T153T	RAPGEF6_uc003kvp.2_Silent_p.T203T|RAPGEF6_uc003kvo.2_Silent_p.T153T|RAPGEF6_uc010jdi.2_Silent_p.T153T|RAPGEF6_uc010jdj.2_Silent_p.T153T|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Silent_p.T153T|RAPGEF6_uc010jdk.3_Silent_p.T153T	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	153					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CATCAGTAATGGTTTGGCGCT	0.333000														107			33		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436697	248436697	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248436697C>T	uc010pzi.2	-	0	420	c.420G>A	c.(418-420)ctG>ctA	p.L140L		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			TGGTCATCCTCAGGCACAGCT	0.582000														167			32		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7679435	7679435	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:7679435C>T	uc021pmv.1	-	4	514	c.408G>A	c.(406-408)aaG>aaA	p.K136K	ITIH5_uc001ijr.2_Silent_p.K136K	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	136	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTTCAGTCCCCTTCTCTCTGT	0.542000														78			7		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121694075	121694076	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:121694075_121694076CC>TT	uc003vjy.3	+	25	6759_6760	c.6364_6365CC>TT	c.(6364-6366)cct>TTt	p.P2122F	PTPRZ1_uc011knt.2_Missense_Mutation_p.P1262F|PTPRZ1_uc003vjz.3_Missense_Mutation_p.P1255F	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	2122	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGTTATGATTCCTGATGGCCAA	0.431000														123			54		0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25701888	25701888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:25701888C>T	uc001bkf.3	-	7	1191	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	RHCE_uc001bkg.3_Missense_Mutation_p.G324E|RHCE_uc001bkh.3_Intron|RHCE_uc001bki.3_Missense_Mutation_p.E218K|RHCE_uc001bkj.3_Missense_Mutation_p.E353K	NM_020485	NP_065231	P18577	RHCE_HUMAN	Homo sapiens Rh blood group, CcEe antigens (RHCE), transcript variant 1, mRNA.	369						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCTGAGTTCCCCAATGCTG	0.547000														172			45		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82578963	82578963	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82578963G>A	uc003uhx.2	-	5	11230	c.10941C>T	c.(10939-10941)ctC>ctT	p.L3647L	PCLO_uc003uhv.2_Silent_p.L3647L|PCLO_uc010lec.3_Silent_p.L612L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3578					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.L3647I(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						TATCATCAGGGAGGGGTTTTT	0.473000														182			59		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11545877	11545877	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:11545877C>T	uc010shk.1	-	2	1170	c.1135G>A	c.(1135-1137)Ggt>Agt	p.G379S		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)			GGTGGGGGACCTTGAGGATTG	0.632000														140			49		0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5868478	5868478	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:5868478G>A	uc003gis.3	-	1	476	c.387C>T	c.(385-387)gaC>gaT	p.D129D	CRMP1_uc003giq.3_Silent_p.D15D|CRMP1_uc003gir.3_Silent_p.D10D	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	15					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TGAGGAGTCGGTCACTCTGCA	0.378000														51			14		0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380453	56380453	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56380453G>A	uc001nja.1	-	0	526	c.526C>T	c.(526-528)Cat>Tat	p.H176Y	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	176					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						CAGTAGAAATGATTGATTTCA	0.453000														50			13		0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176556167	176556167	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:176556167C>T	uc003iuf.3	-	6	1530	c.726G>A	c.(724-726)gtG>gtA	p.V242V	GPM6A_uc011ckj.2_Silent_p.V235V|GPM6A_uc003iug.3_Silent_p.V242V|GPM6A_uc003iuh.3_Silent_p.V231V	NM_201591	NP_963885	P51674	GPM6A_HUMAN	Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA.	242			V -> L (in dbSNP:rs1049820).			cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		AGGCGTCTTTCACATAGGCCC	0.433000														43			16		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698548	96698548	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96698548C>T	uc001kka.4	+	0	134	c.109C>T	c.(109-111)Cca>Tca	p.P37S	CYP2C9_uc009xut.3_Missense_Mutation_p.P37S|CYP2C9_uc001kjz.3_Missense_Mutation_p.P37S	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	37					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CACTCCTCTCCCAGTGATTGG	0.458000														129			47		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156877930	156877930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156877930G>A	uc001fqj.1	+	8	1029	c.913G>A	c.(913-915)Gag>Aag	p.E305K	PEAR1_uc009wsl.1_Missense_Mutation_p.E106K|PEAR1_uc001fqk.1_5'UTR	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	305						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)					GTGCCGGGAGGAGTGCCCGGT	0.711000														14			4		0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129875931	129875931	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:129875931C>T	uc009yat.3	+	19	2226	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	PTPRE_uc001lkb.3_Silent_p.F592F|PTPRE_uc009yau.2_Silent_p.F592F|PTPRE_uc001lkd.3_Silent_p.F534F|PTPRE_uc010quq.1_Silent_p.F493F	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	592	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				AGTTTCACTTCCACGGCTGGC	0.662000														47			7		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169509663	169509663	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169509663C>T	uc001ggg.1	-	12	4810	c.4665G>A	c.(4663-4665)agG>agA	p.R1555R		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1555	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.V1554A(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGATGTTTGTCCTAACATCAG	0.418000														47			29		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2020477	2020477	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2020477G>A	uc003wpx.4	+	8	984	c.846G>A	c.(844-846)gaG>gaA	p.E282E	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	282	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle	p.L281fs*23(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AGTTTTTGGAGAAGTTTGGGG	0.597000														48			16		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38917344	38917344	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38917344C>T	uc021yzh.1	+	80	12355	c.12246C>T	c.(12244-12246)atC>atT	p.I4082I	DNAH8_uc003ooe.2_Silent_p.I3865I|DNAH8_uc003oog.1_Silent_p.I314I|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTTACTTATCAGGTGAGAAC	0.363000														86			17		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898490	175898490	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:175898490G>A	uc003iuc.3	+	4	2484	c.1814G>A	c.(1813-1815)gGg>gAg	p.G605E	ADAM29_uc003iud.3_Missense_Mutation_p.G605E|ADAM29_uc010irr.3_Missense_Mutation_p.G605E|ADAM29_uc011cki.2_Missense_Mutation_p.G605E|ADAM29_uc021xuo.1_Missense_Mutation_p.G605E	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	605	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACAGAGTGTGGGATAGATCAT	0.428000														157			46		0	0	1	0	0
ALOX5AP	241	broad.mit.edu	37	13	31318246	31318246	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:31318246G>A	uc010tdr.2	+	2	539	c.291G>A	c.(289-291)agG>agA	p.R97R	ALOX5AP_uc001utf.2_Silent_p.R40R	NM_001204406	NP_001191335	P20292	AL5AP_HUMAN	Homo sapiens arachidonate 5-lipoxygenase-activating protein (ALOX5AP), transcript variant 2, mRNA.	40					cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		AGAATGGGAGGAGCTTCCAGA	0.542000														51			10		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240341341	240341341	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240341341G>A	uc010pye.2	+	2	2128	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	FMN2_uc010pyd.2_Missense_Mutation_p.E635K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	635					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCCGATGAGGAACACAGGCT	0.473000														62			19		0	0	1	0	0
SLC27A4	10999	broad.mit.edu	37	9	131117932	131117932	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131117932C>T	uc004but.3	+	11	1916	c.1631C>T	c.(1630-1632)aCc>aTc	p.T544I	SLC27A4_uc004buu.3_Missense_Mutation_p.T138I	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	544					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	p.G543*(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CCCCCAGGAACCGAGGGCCGG	0.657000														72			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596949	179596949	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179596949C>T	uc021vsy.1	-	53	13240	c.13015G>A	c.(13015-13017)Gaa>Aaa	p.E4339K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1000K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5266	Ig-like 23.						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)			TCCTTAATTTCTCTATCATTT	0.428000														154			48		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4201420	4201420	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:4201420C>T	uc003smx.3	+	31	4871	c.4732C>T	c.(4732-4734)Cca>Tca	p.P1578S	SDK1_uc010kso.3_Missense_Mutation_p.P854S|SDK1_uc003smy.3_Missense_Mutation_p.P65S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1578	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGTTTCAGTTCCAGGAGAGCC	0.607000														140			31		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50557805	50557805	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:50557805C>T	uc001zxz.3	-	0	358	c.16G>A	c.(16-18)Gag>Aag	p.E6K	HDC_uc010uff.2_Missense_Mutation_p.E6K|HDC_uc010bet.2_Missense_Mutation_p.E6K|HDC_uc010beu.2_Missense_Mutation_p.E6K	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	6					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TCTCTGTACTCCTCAGGCTCC	0.617000														28			15		0	0	1	0	0
GSTM3	2947	broad.mit.edu	37	1	110280755	110280755	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110280755A>T	uc001dyo.2	-	5	640	c.330T>A	c.(328-330)gaT>gaA	p.D110E	GSTM3_uc001dyp.2_Missense_Mutation_p.D107E|GSTM3_uc010ovv.2_Missense_Mutation_p.D110E	NM_000849	NP_000840	P21266	GSTM3_HUMAN	Homo sapiens glutathione S-transferase mu 3 (brain) (GSTM3), transcript variant 1, mRNA.	110	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GTGTGCGGAAATCCATTACTT	0.443000														43			21		0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145415657	145415657	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:145415657G>A	uc001eni.2	+	2	801	c.476G>A	c.(475-477)gGt>gAt	p.G159D	HFE2_uc001enk.2_Missense_Mutation_p.G46D|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	159					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGGCTGCATGGTCGTCCCCCG	0.687000														46			14		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7618552	7618552	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:7618552G>A	uc021pmv.1	-	9	1948	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F	ITIH5_uc021pmu.1_Silent_p.F400F|ITIH5_uc001ijr.2_Silent_p.F614F	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	614					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						AGGGAGTGAGGAAGCGGTAGC	0.667000														53			20		0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70145692	70145692	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:70145692G>A	uc004dyn.3	-	11	2005	c.1831C>T	c.(1831-1833)Ccc>Tcc	p.P611S	SLC7A3_uc004dyo.3_Missense_Mutation_p.P611S	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	611					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGAGTGCCGGGATCAAGGTCT	0.498000														21			29		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75036941	75036942	+	Missense_Mutation	DNP	CC	TT	TT	rs139857791	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75036941_75036942CC>TT	uc001dgg.3	-	13	4671_4672	c.4452_4453GG>AA	c.(4450-4455)agggaa>agAAaa	p.E1485K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1485	Glu-rich.									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						GGACTCAATTCCCTCTCTCCCT	0.545000														157			69		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3681616	3681616	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:3681616C>T	uc003smx.3	+	3	731	c.592C>T	c.(592-594)Cag>Tag	p.Q198*		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	198	Ig-like C2-type 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGATACGGACCAGAGGAAAAC	0.468000														66			13		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121279119	121279119	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:121279119G>A	uc003yox.3	+	24	3335	c.3070G>A	c.(3070-3072)Gaa>Aaa	p.E1024K	COL14A1_uc003yoy.3_Missense_Mutation_p.E702K	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1024					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCAGCAAAAGAAGGTAAAAG	0.363000														167			28		0	0	1	0	0
MBLAC2	153364	broad.mit.edu	37	5	89757138	89757138	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89757138G>A	uc003kjp.3	-	1	1162	c.686C>T	c.(685-687)cCt>cTt	p.P229L		NM_203406	NP_981951	Q68D91	MBLC2_HUMAN	Homo sapiens metallo-beta-lactamase domain containing 2 (MBLAC2), mRNA.	229							hydrolase activity|metal ion binding			kidney(1)|liver(1)|lung(3)	5						GAAGTGCCCAGGAAGCACCTT	0.423000														114			15		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857425	210857425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:210857425C>T	uc001hib.2	-	10	2338	c.2168G>A	c.(2167-2169)cGa>cAa	p.R723Q	KCNH1_uc001hic.2_Missense_Mutation_p.R696Q	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	723	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.R723Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTCATTCTTTCGTTTCATGCG	0.552000														55			16		0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72724649	72724649	+	Missense_Mutation	SNP	G	A	A	rs146519251		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:72724649G>A	uc004ahm.2	+	3	1051	c.434G>A	c.(433-435)gGt>gAt	p.G145D	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	145	MAM 1.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTAATAGAAGGTGTACTAGGA	0.403000														154			23		0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155018608	155018608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155018608G>A	uc001fgn.2	+	11	1394	c.1280G>A	c.(1279-1281)cGg>cAg	p.R427Q	DCST1_uc010per.2_Missense_Mutation_p.R452Q|DCST1_uc010pes.2_Missense_Mutation_p.R402Q|LOC100505666_uc021pam.1_Non-coding_Transcript|LOC100505666_uc021pan.1_Non-coding_Transcript	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	427						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CAGGGCAAACGGACTCTGCTG	0.557000														74			22		0	0	1	0	0
MIP	4284	broad.mit.edu	37	12	56847402	56847402	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56847402G>A	uc001slh.3	-	1	536	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_012064	NP_036196	P30301	MIP_HUMAN	Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.	166					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GGGCAAGGGAGAAGCCAACGG	0.567000														62			27		0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24775148	24775148	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24775148G>A	uc003xed.4	+	2	1813	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K	NEFM_uc011lac.1_Intron|NEFM_uc010lue.3_Missense_Mutation_p.E218K	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	594	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		aaagagtgaggaagTGGCTAC	0.488000														26			11		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65260293	65260293	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:65260293G>A	uc001xht.3	-	12	2139	c.2088C>T	c.(2086-2088)atC>atT	p.I696I	SPTB_uc001xhr.3_Silent_p.I696I|SPTB_uc001xhs.3_Silent_p.I696I|SPTB_uc001xhu.3_Silent_p.I696I	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	696					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTCCTGGAAGATCTGCTCCA	0.587000														25			19		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24432531	24432531	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24432531C>T	uc001bin.4	-	4	602	c.439G>A	c.(439-441)Gag>Aag	p.E147K	MYOM3_uc001bio.3_Missense_Mutation_p.E147K|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	147								p.E147K(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TAGCACAGCTCCCTCAGCTCC	0.642000														34			12		0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52091439	52091439	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52091439A>G	uc002pxb.3	+	4	2233	c.1855A>G	c.(1855-1857)Aaa>Gaa	p.K619E	AX748312_uc002pxc.1_5'Flank	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	Homo sapiens zinc finger protein 175 (ZNF175), mRNA.	619					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TGTCTGTTACAAATGTGGGAA	0.433000														145			69		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171086461	171086461	+	Missense_Mutation	SNP	C	T	T	rs61008738	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171086461C>T	uc001ghi.3	+	8	1589	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L	FMO3_uc001ghh.3_Missense_Mutation_p.S493L|FMO3_uc010pmb.2_Missense_Mutation_p.S473L|FMO3_uc010pmc.2_Missense_Mutation_p.S430L	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	493					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.S493*(2)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGGACCGGTCGTTGAAACCC	0.517000														49			28		0	0	1	0	0
SFXN1	94081	broad.mit.edu	37	5	174940517	174940517	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:174940517G>A	uc003mda.2	+	6	786	c.648G>A	c.(646-648)ggG>ggA	p.G216G	SFXN1_uc003mdb.1_Silent_p.G155G	NM_022754	NP_073591	Q9H9B4	SFXN1_HUMAN	Homo sapiens sideroflexin 1 (SFXN1), mRNA.	216					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACCGCTTGGGGGAGTCGGCGA	0.517000														57			28		0	0	1	0	0
BSPRY	54836	broad.mit.edu	37	9	116132182	116132182	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116132182C>T	uc004bhg.4	+	5	1017	c.969C>T	c.(967-969)ttC>ttT	p.F323F	BSPRY_uc010muw.3_3'UTR	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.	323	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						ACAATGCCTTCTCCTGGGTCT	0.607000														44			22		0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3779070	3779070	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3779070G>A	uc002lyt.3	-	11	1517	c.1117C>T	c.(1117-1119)Ctg>Ttg	p.L373L	MATK_uc002lyv.3_Silent_p.L374L|MATK_uc002lyu.3_Silent_p.L332L|MATK_uc010dtq.3_Silent_p.L373L|JA611290_uc021umx.1_5'Flank	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	373	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTTGGCCAGGCCAAAGTCG	0.637000														30			10		0	0	1	0	0
AX747417	0	broad.mit.edu	37	3	95374164	95374164	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:95374164C>T	uc003dro.1	-	4		c.1698G>A								Homo sapiens cDNA FLJ34909 fis, clone NT2RI2009301, moderately similar to BIFUNCTIONAL METHYLENETETRAHYDROFOLATE DEHYDROGENASE/CYCLOHYDROLASE, MITOCHONDRIAL PRECURSOR.																		GGAGTATATCCATGAGATATT	0.403000														43			18		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531707	50531707	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50531707C>T	uc021pqb.1	+	0	1117	c.1117C>T	c.(1117-1119)Caa>Taa	p.Q373*	C10orf71_uc021pqa.1_Nonsense_Mutation_p.Q372*|C10orf71_uc021pqc.1_Nonsense_Mutation_p.Q373*	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	373										endometrium(1)	1						ACCTGATTCTCAAGAGAAGCC	0.512000														69			16		0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55569674	55569675	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55569674_55569675GG>AA	uc021onw.1	-	41	5152_5153	c.4899_4900CC>TT	c.(4897-4902)agccga>agTTga	p.R1634*	USP24_uc001cyg.4_Nonsense_Mutation_p.R1468*	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	1634					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GCTGCCAATCGGCTATTCGCTG	0.347000														6			7		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187192915	187192915	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187192915C>T	uc003iza.1	+	2	541	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S	F11_uc003iyz.3_Missense_Mutation_p.P70S	NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	70	Apple 1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	ATCTGAGGATCCCACCCGATG	0.418000														97			28		0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67380159	67380160	+	Splice_Site	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67380159_67380160GG>AA	uc002esv.3	+	3	218	c.199_splice	c.e3-1	p.G67_splice	LRRC36_uc002esw.3_Splice_Site|LRRC36_uc010ceh.3_5'Flank|LRRC36_uc002esx.3_5'Flank|LRRC36_uc010vjk.2_5'Flank|LRRC36_uc010vjl.2_5'Flank	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.	67										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TTCCTTGTAGGGAATCCAGTAT	0.361000														74			23		0	0	1	0	0
GTF2F2	2963	broad.mit.edu	37	13	45725907	45725907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:45725907C>T	uc001uzw.3	+	3	405	c.245C>T	c.(244-246)cCa>cTa	p.P82L		NM_004128	NP_004119	P13984	T2FB_HUMAN	Homo sapiens general transcription factor IIF, polypeptide 2, 30kDa (GTF2F2), mRNA.	82					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		AGAGAACATCCATTTGTCTTG	0.368000														161			60		0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110902115	110902115	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:110902115G>A	uc002tfn.4	-	14	1643	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S	NPHP1_uc002tfm.4_Missense_Mutation_p.P462S|NPHP1_uc002tfl.4_Missense_Mutation_p.P518S|NPHP1_uc002tfo.4_Missense_Mutation_p.P399S|NPHP1_uc010ywx.2_Missense_Mutation_p.P461S|NPHP1_uc010fjv.1_Missense_Mutation_p.P461S	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	517					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTTTCATAAGGAGTACCACCA	0.358000														70			33		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7695297	7695297	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7695297G>A	uc002giu.1	+	43	6977	c.6963G>A	c.(6961-6963)atG>atA	p.M2321I		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2321					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTTCAGCATGATCTGGTCTG	0.532000														78			55		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60689058	60689058	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:60689058G>A	uc002sae.1	-	3	1217	c.989C>T	c.(988-990)cCg>cTg	p.P330L	BCL11A_uc002sab.3_Missense_Mutation_p.P330L|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.P296L|BCL11A_uc002sad.1_Missense_Mutation_p.P178L|BCL11A_uc002saf.1_Missense_Mutation_p.P296L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	330	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGGGGACAGCGGTGGGCTAGA	0.612000			T	IGH@	B-CLL									138			57		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053020	17053020	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:17053020C>T	uc011awc.2	+	2	2254	c.2158C>T	c.(2158-2160)Ctc>Ttc	p.L720F	PLCL2_uc011awd.2_Missense_Mutation_p.L602F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	728	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TGGCTATGTCCTCCGGCCAGC	0.483000														66			23		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3313082	3313082	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3313082G>A	uc001akf.3	+	4	683	c.601G>A	c.(601-603)Gag>Aag	p.E201K	PRDM16_uc001ake.3_Missense_Mutation_p.E201K|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.E201K	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	201	SET.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TAAGGACATTGAGCCAGGTGA	0.572000			T	EVI1	"""MDS, AML"""									13			5		0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146807307	146807307	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:146807307G>A	uc003ikn.3	-	3	1318	c.1270C>T	c.(1270-1272)Cat>Tat	p.H424Y	ZNF827_uc003ikm.3_Missense_Mutation_p.H424Y|ZNF827_uc010iox.3_Missense_Mutation_p.H74Y	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TGGTGCTGATGAACCTGACGG	0.502000														17			7		0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30585176	30585176	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30585176G>A	uc002wxe.3	+	2	1830	c.1656G>A	c.(1654-1656)gaG>gaA	p.E552E		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	552						integral to membrane		p.L551L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGCACTGGAGTACTCCTCAC	0.602000														98			22		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53662562	53662562	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53662562C>T	uc001sck.2	+	1	103	c.12C>T	c.(10-12)ttC>ttT	p.F4F	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	4					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGAGGAGCTTCAAAAGAGTCA	0.532000														14			3		0	0	1	0	0
ACTA1	58	broad.mit.edu	37	1	229568311	229568311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:229568311C>T	uc001htm.3	-	2	551	c.446G>A	c.(445-447)aGg>aAg	p.R149K		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	149					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	ACCGGTGGTCCTGCCGGAGGC	0.711000														48			20		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933697	94933697	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94933697G>A	uc001ydf.3	-	2	866	c.705C>T	c.(703-705)caC>caT	p.H235H	SERPINA9_uc001yde.3_Silent_p.H135H|SERPINA9_uc010avc.3_Silent_p.H86H|SERPINA9_uc001ydg.3_Silent_p.H199H|SERPINA9_uc001ydh.1_Silent_p.H235H|SERPINA9_uc001ydi.1_Silent_p.H199H	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.	217					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)		TATATTCAGGGTGAAAGGGCT	0.468000														35			15		0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067202	18067202	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:18067202C>T	uc003stz.3	-	0	285	c.204G>A	c.(202-204)atG>atA	p.M68I		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	68					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCAAAAGCTCCATTAGACTGT	0.478000														278			102		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15614330	15614330	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15614330G>A	uc001ioc.1	-	24	2517	c.2517C>T	c.(2515-2517)atC>atT	p.I839I	ITGA8_uc010qcb.1_Silent_p.I824I	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	839					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCACCTCCAGGATGGTGTCAC	0.443000														92			39		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277573	140277573	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:140277573G>A	uc003etn.3	+	11	2105	c.1915G>A	c.(1915-1917)Ggc>Agc	p.G639S		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	639					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CACCCTCCGGGGCACAGACCA	0.557000										HNSCC(16;0.037)				70			26		0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99441317	99441317	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:99441317C>T	uc003yin.3	+	1	1460	c.1110C>T	c.(1108-1110)gtC>gtT	p.V370V	KCNS2_uc022azb.1_Silent_p.V370V	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	370						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V370I(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GGGCTACCGTCAGTATGACCA	0.617000														51			23		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32977057	32977057	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:32977057C>T	uc001rlj.4	-	7	1843	c.1728G>A	c.(1726-1728)atG>atA	p.M576I	PKP2_uc001rlk.4_Missense_Mutation_p.M532I|PKP2_uc010skj.2_Missense_Mutation_p.M532I	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	576					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.A575V(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CACATCTTCTCATCGCTTTTC	0.408000														66			31		0	0	1	0	0
PSMG2	56984	broad.mit.edu	37	18	12706668	12706668	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:12706668T>G	uc002krk.3	+	1	297	c.177T>G	c.(175-177)aaT>aaG	p.N59K	PSMG2_uc002krg.3_Missense_Mutation_p.N28K|PSMG2_uc002krj.2_Missense_Mutation_p.N59K	NM_020232	NP_671692	Q969U7	PSMG2_HUMAN	Homo sapiens proteasome (prosome, macropain) assembly chaperone 2 (PSMG2), transcript variant 1, mRNA.	59					proteasome assembly	nucleus	protein binding			lung(1)|prostate(2)|skin(1)	4						TTGGAAACAATCCATATGCGA	0.368000														98			14		0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269430	30269430	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:30269430C>T	uc022buh.1	+	0	820	c.820C>T	c.(820-822)Ccg>Tcg	p.P274S	MAGEB1_uc004dcc.3_Missense_Mutation_p.P274S|MAGEB1_uc004dcd.3_Missense_Mutation_p.P274S|MAGEB1_uc004dce.3_Missense_Mutation_p.P274S	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	274	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCTATGGGGTCCGAGAGCCTA	0.507000														29			46		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75581606	75581606	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:75581606G>A	uc003kei.1	+	6	1182	c.1048_splice	c.e6-1	p.V350_splice		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	350					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CATTTCTTAGGTTGGAAAACA	0.458000														56			23		0	0	1	0	0
NBL1	4681	broad.mit.edu	37	1	19981573	19981573	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:19981573C>T	uc001bcj.2	+	1	238	c.155C>T	c.(154-156)gCt>gTt	p.A52V	NBL1_uc021ohw.1_Missense_Mutation_p.A31V|NBL1_uc009vpl.2_Missense_Mutation_p.A17V|NBL1_uc009vpm.2_Missense_Mutation_p.A17V|NBL1_uc001bck.2_Missense_Mutation_p.A17V|NBL1_uc021ohy.1_Missense_Mutation_p.A16V|NBL1_uc021ohz.1_Missense_Mutation_p.A51V	NM_182744	NP_001191018	P41271	NBL1_HUMAN	Homo sapiens neuroblastoma, suppression of tumorigenicity 1 (NBL1), transcript variant 1, mRNA.	16	CTCK.					extracellular region				lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATGCTACTGGCTGCCCCACCA	0.627000														24			8		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175306769	175306769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175306769C>T	uc001gkp.1	-	16	3510	c.3429G>A	c.(3427-3429)atG>atA	p.M1143I	TNR_uc009wwu.1_Missense_Mutation_p.M1143I	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1143	Fibrinogen C-terminal.				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)					TGTCTCCATTCATCAAATGCT	0.507000														33			18		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396914	197396914	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197396914C>T	uc001gtz.3	+	6	2668	c.2459C>T	c.(2458-2460)tCt>tTt	p.S820F	CRB1_uc010poz.2_Missense_Mutation_p.S751F|CRB1_uc009wza.3_Missense_Mutation_p.S708F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.S301F|CRB1_uc001gub.1_Missense_Mutation_p.S469F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	820	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATTTCTGCTTCTACGTGGAAA	0.373000														42			14		0	0	1	0	0
ELF2	1998	broad.mit.edu	37	4	139988877	139988877	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:139988877G>A	uc003ihp.1	-	5	789	c.538C>T	c.(538-540)Cct>Tct	p.P180S	ELF2_uc003ihm.1_Missense_Mutation_p.P132S|ELF2_uc003ihn.1_Missense_Mutation_p.P120S|ELF2_uc003iho.1_Intron|ELF2_uc010ioh.3_Missense_Mutation_p.P120S	NM_201999	NP_973728	Q15723	ELF2_HUMAN	Homo sapiens E74-like factor 2 (ets domain transcription factor) (ELF2), transcript variant 1, mRNA.	192					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CCTAACTCAGGAGACCCATTG	0.363000														99			43		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193201771	193201771	+	Silent	SNP	G	A	A	rs111773905	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:193201771G>A	uc003ftd.3	-	7	870	c.762C>T	c.(760-762)ctC>ctT	p.L254L	ATP13A4_uc003fte.1_Silent_p.L254L|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	254					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GTGACTCGACGAGATGGTGGA	0.348000														63			48		0	0	1	0	0
ARSG	22901	broad.mit.edu	37	17	66339821	66339821	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:66339821C>T	uc002jhc.2	+	2	1091	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C		NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Homo sapiens arylsulfatase G (ARSG), mRNA.	99					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	p.R99H(1)		NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCTTGGCCTTCGCAATGGAGT	0.607000														53			17		0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114380964	114380964	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:114380964G>A	uc001eds.3	-	12	1188	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	PTPN22_uc021orx.1_Missense_Mutation_p.S353F|PTPN22_uc009wgq.3_Missense_Mutation_p.S298F|PTPN22_uc021ory.1_Missense_Mutation_p.S329F|PTPN22_uc010owo.2_Missense_Mutation_p.S109F|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.S353F|PTPN22_uc009wgs.2_Missense_Mutation_p.S226F|PTPN22_uc001edu.2_Missense_Mutation_p.S353F	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	353					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGTCAAAGGAAGAAGATTC	0.348000														28			12		0	0	1	0	0
PTGDS	5730	broad.mit.edu	37	9	139873743	139873744	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139873743_139873744GG>AA	uc004cke.3	+	2	1353_1354	c.323_324GG>AA	c.(322-324)cgg>cAA	p.R108Q	PTGDS_uc004ckd.3_Non-coding_Transcript	NM_000954	NP_000945	P41222	PTGDS_HUMAN	Homo sapiens prostaglandin D2 synthase 21kDa (brain) (PTGDS), mRNA.	108					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TACAGCTACCGGAGTCCCCGTG	0.688000														62			23		0	0	1	0	0
PLEKHB2	55041	broad.mit.edu	37	2	132110674	132110674	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:132110674C>T	uc002tsh.2	+	6	1065	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S				Q96CS7	PKHB2_HUMAN	Homo sapiens pleckstrin homology domain containing, family B (evectins) member 2 (PLEKHB2), transcript variant 2, mRNA.	0						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		ATGTTTTTTTCCCAGCGAATC	0.478000														27			7		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665966	19665966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:19665966G>A	uc002wrl.3	+	11	1482	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	429						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ggaggacgaggatgatgatga	0.517000														68			22		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6174838	6174838	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:6174838G>A	uc003mwv.3	-	11	1845	c.1722C>T	c.(1720-1722)ttC>ttT	p.F574F	F13A1_uc011dib.2_Silent_p.F511F	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	574					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GCGTCACGTCGAACGTCTCCT	0.522000														147			57		0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41354158	41354158	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41354158C>T	uc002opl.4	-	3	641	c.620G>A	c.(619-621)gGa>gAa	p.G207E	CYP2A6_uc010ehe.1_Missense_Mutation_p.G3E|CYP2A6_uc010ehf.1_Non-coding_Transcript	NM_000762	NP_000753	P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	207					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CTGGAAGATTCCTAGCATCAT	0.567000														110			40		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2421882	2421882	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:2421882G>A	uc010xgx.2	+	12	2083	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	695	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTGCGAGGAGGCCCCTGG	0.612000														67			44		0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100463110	100463110	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:100463110G>A	uc003huw.3	+	8	1286	c.924G>A	c.(922-924)atG>atA	p.M308I	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	308										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GAAATAATATGAAAATACCTG	0.388000														39			18		0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005273	1005273	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:1005273C>T	uc002lqo.1	+	2	1773	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	591					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCGCGCTCTTCCTCACCGTGT	0.667000														72			22		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340447	121340447	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121340447C>T	uc003eeg.2	+	2	381	c.171C>T	c.(169-171)ctC>ctT	p.L57L		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	57					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ACCAGCTCCTCTGCCCTTTAG	0.587000														76			30		0	0	1	0	0
SPANXE	171489	broad.mit.edu	37	X	140786514	140786514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140786514C>T	uc004fbq.3	-	0	142	c.49G>A	c.(49-51)Gat>Aat	p.D17N		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	17						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					TCGTTGGAATCACAGGGGACG	0.502000														44			49		0	0	1	0	0
MIR563	693148	broad.mit.edu	37	3	15915346	15915346	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:15915346C>T	uc021wtp.1	+	0		c.69C>T								Homo sapiens microRNA 563 (MIR563), microRNA.																		CATACGTTTCCCTGGTAGCCA	0.383000														73			36		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42204020	42204020	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:42204020G>A	uc003ose.2	-	15	3612	c.3049C>T	c.(3049-3051)Ccc>Tcc	p.P1017S	TRERF1_uc011duq.1_Missense_Mutation_p.P914S|TRERF1_uc003osb.2_Missense_Mutation_p.P753S|TRERF1_uc003osc.2_Missense_Mutation_p.P753S|TRERF1_uc003osd.2_Missense_Mutation_p.P997S	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	997	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCTCCGTGGGAGCCAGGACG	0.627000														21			6		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12969475	12969475	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12969475G>A	uc002mvm.3	+	11	1416	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	MAST1_uc021upp.1_Missense_Mutation_p.E254K	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	430	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CACCTTCGCCGAGAACCCGTT	0.572000														40			22		0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58118247	58118247	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58118247C>T	uc002qpk.2	+	2	1574	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_Intron	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGGCCTCTTTCGACACAGAAG	0.423000														126			37		0	0	1	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36233574	36233574	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36233574G>A	uc002obg.3	-	7	915	c.606C>T	c.(604-606)tcC>tcT	p.S202S	IGFLR1_uc002obb.3_5'Flank|IGFLR1_uc002obc.3_5'Flank|IGFLR1_uc010xsy.2_5'Flank|IGFLR1_uc002obd.4_5'Flank|IGFLR1_uc010eej.3_Intron|U2AF1L4_uc002obe.3_3'UTR|U2AF1L4_uc002obf.3_Silent_p.S178S|U2AF1L4_uc002obh.1_3'UTR|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank			Q8WU68	U2AF4_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 1-like 4 (U2AF1L4), transcript variant 1, mRNA.	0					RNA splicing|mRNA processing	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTCCTGCCAGGAACATCTGT	0.597000														103			28		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50733833	50733833	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:50733833A>T	uc002egm.1	+	1	613	c.508A>T	c.(508-510)Atc>Ttc	p.I170F	NOD2_uc010cbj.1_Missense_Mutation_p.I143F|NOD2_uc021tia.1_5'UTR|NOD2_uc010cbk.1_Missense_Mutation_p.I143F|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	170	CARD 2.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ATGTGATGAAATCAGGTTGCC	0.552000														45			8		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6897452	6897452	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6897452C>T	uc002mfw.3	+	4	446	c.408C>T	c.(406-408)tgC>tgT	p.C136C	EMR1_uc010dvc.3_Silent_p.C136C|EMR1_uc010dvb.3_Silent_p.C84C|EMR1_uc010xji.2_Intron|EMR1_uc010xjj.2_Silent_p.C136C	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	136	EGF-like 3; calcium-binding (Potential).				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)					TCAATGAGTGCCTCACCAGCA	0.478000														46			25		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212295675	212295675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:212295675C>T	uc002veg.1	-	20	2736	c.2638G>A	c.(2638-2640)Gga>Aga	p.G880R	ERBB4_uc002veh.1_Missense_Mutation_p.G880R|ERBB4_uc010zji.1_Missense_Mutation_p.G870R|ERBB4_uc010zjj.1_Missense_Mutation_p.G870R	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	880	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCCACCTTTCCTCCATCAGCA	0.363000										TSP Lung(8;0.080)				115			48		0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30572209	30572209	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30572209C>T	uc003nqn.1	-	12	1734	c.1182G>A	c.(1180-1182)agG>agA	p.R394R	PPP1R10_uc010jsc.1_Silent_p.R48R	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	394	Essential for PPP1CA inhibition (By similarity).|Necessary for interaction with PPP1CA (By similarity).|Necessary for interaction with PPP1CC.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTTTCCTCTTCCTGCCTTTCC	0.483000														132			57		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48849077	48849077	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:48849077G>A	uc003xqi.3	-	12	1171	c.1114_splice	c.e12-1	p.P372_splice	PRKDC_uc003xqj.3_Splice_Site_p.P372_splice	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	372					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACCTTGCACGGCTTTAGAAAA	0.378000								Non-homologous end-joining						38			18		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78372553	78372553	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:78372553C>T	uc001ozl.4	-	32	7955	c.7492G>A	c.(7492-7494)Gaa>Aaa	p.E2498K	ODZ4_uc001ozk.4_Missense_Mutation_p.E723K	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2498					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TAGGAGGGTTCCATGGCATCC	0.532000														13			9		0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214727255	214727255	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:214727255G>A	uc002veq.3	+	10	1209	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N	SPAG16_uc010fuz.2_Missense_Mutation_p.D224N|SPAG16_uc002ver.3_Missense_Mutation_p.D319N|SPAG16_uc010zjk.2_Missense_Mutation_p.D279N	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	373					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTGTGGCGAGGACCGACTCTG	0.502000														79			31		0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21141196	21141196	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:21141196G>A	uc002ztc.2	+	3	1429	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Missense_Mutation_p.E448K	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	448					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	AGTGAACGAGGAAGGCACCCA	0.547000														115			41		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128324308	128324308	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:128324308C>T	uc002top.3	+	4	429	c.376C>T	c.(376-378)Cat>Tat	p.H126Y		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	126	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTACAGCCGCCATATGGGCGA	0.582000														24			7		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98866842	98866842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:98866842G>A	uc002syo.3	+	19	2999	c.2735G>A	c.(2734-2736)gGa>gAa	p.G912E	VWA3B_uc002sym.3_Missense_Mutation_p.G912E|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.G569E|VWA3B_uc002syp.1_Missense_Mutation_p.G304E|VWA3B_uc002syq.1_Missense_Mutation_p.G188E|VWA3B_uc002syr.1_Missense_Mutation_p.G229E|VWA3B_uc010fii.1_Non-coding_Transcript|VWA3B_uc002sys.3_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	912										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AACCCCCAAGGAGCCAAACTC	0.408000														86			30		0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35545003	35545003	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:35545003C>T	uc011dte.1	-	9	1237	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	FKBP5_uc003okx.2_Missense_Mutation_p.G345E|FKBP5_uc011dtf.1_Missense_Mutation_p.G166E|FKBP5_uc003oky.2_Missense_Mutation_p.G345E	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	345					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						ACTGTCCAGTCCAAGGGCCTA	0.433000														174			51		0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51770760	51770760	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:51770760C>T	uc001csl.3	-	7	860	c.755G>A	c.(754-756)gGa>gAa	p.G252E	TTC39A_uc001csk.3_Missense_Mutation_p.G217E|TTC39A_uc010ond.2_Missense_Mutation_p.G189E|TTC39A_uc010one.2_Missense_Mutation_p.G216E|TTC39A_uc010onf.2_Missense_Mutation_p.G220E|TTC39A_uc001csn.3_Missense_Mutation_p.G251E|TTC39A_uc001cso.1_Missense_Mutation_p.G248E|TTC39A_uc009vyy.1_Missense_Mutation_p.G189E	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	252							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TACCTTGTTTCCTGAAAACCC	0.582000														48			20		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48603616	48603616	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48603616G>A	uc010wmr.2	+	13	2448	c.2286G>A	c.(2284-2286)gaG>gaA	p.E762E	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	725					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	p.L761L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TCTGCTTGGAGGACTTCAGAA	0.577000														153			19		0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35928300	35928300	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:35928300G>A	uc001byx.3	-	7	1474	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	KIAA0319L_uc010ohv.1_Missense_Mutation_p.R48W|KIAA0319L_uc010ohw.2_Non-coding_Transcript	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	406						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGGGGGGCCGATTCTTACGG	0.448000														64			23		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97990571	97990571	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:97990571C>T	uc001kls.4	-	3	361	c.183G>A	c.(181-183)gaG>gaA	p.E61E	BLNK_uc001kme.4_Intron|BLNK_uc001klt.4_Intron|BLNK_uc009xvc.3_Intron|BLNK_uc001klu.4_5'UTR|BLNK_uc001klv.4_Silent_p.E61E|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Silent_p.E61E|BLNK_uc001kly.4_Silent_p.E61E|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Silent_p.E61E|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_5'UTR|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	61					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		ACCACTGCTCCTCTTCGTCAG	0.542000														13			4		0	0	1	0	0
BGN	633	broad.mit.edu	37	X	152770723	152770723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:152770723C>T	uc004fhr.2	+	2	502	c.266C>T	c.(265-267)tCc>tTc	p.S89F		NM_001711	NP_001702	P21810	PGS1_HUMAN	Homo sapiens biglycan (BGN), mRNA.	89						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAAGAGATCTCCCCTGACACC	0.597000														27			34		0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41558063	41558063	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:41558063C>T	uc003oql.3	+	11	1870	c.1412C>T	c.(1411-1413)aCc>aTc	p.T471I	FOXP4_uc003oqm.3_Missense_Mutation_p.T469I|FOXP4_uc003oqn.3_Missense_Mutation_p.T458I	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	471					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCCCCCTTCACCTACGCCTCC	0.647000														120			42		0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58978287	58978287	+	Silent	SNP	C	T	T	rs144610063		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58978287C>T	uc001nnu.4	-	0	2208	c.2052G>A	c.(2050-2052)aaG>aaA	p.K684K		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	684						integral to membrane		p.K684K(2)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GATATGCTTTCTTCTTGAACT	0.542000														84			28		0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130984529	130984529	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130984529G>A	uc022bob.1	+	6	990	c.903G>A	c.(901-903)caG>caA	p.Q301Q	DNM1_uc022bnx.1_Silent_p.Q301Q|DNM1_uc022bny.1_Silent_p.Q301Q|DNM1_uc022bnz.1_Silent_p.Q301Q|DNM1_uc022boa.1_Silent_p.Q301Q	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	301					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						ACAAGCTGCAGAGCCAGCTAC	0.597000														90			26		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698359	169698359	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169698359C>T	uc001ggm.4	-	6	1215	c.1058G>A	c.(1057-1059)gGg>gAg	p.G353E	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	353	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGTCCACTGCCCTTGAGTGGT	0.463000														56			26		0	0	1	0	0
RAX	30062	broad.mit.edu	37	18	56939653	56939653	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:56939653C>T	uc002lhx.3	-	1	670	c.483G>A	c.(481-483)ccG>ccA	p.P161P	RAX_uc010dpp.3_Intron	NM_013435	NP_038463	Q9Y2V3	RX_HUMAN	Homo sapiens retina and anterior neural fold homeobox (RAX), mRNA.	161					visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		TGTACACGTCCGGGTAGTGGG	0.622000														51			34		0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420022	56420022	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:56420022G>A	uc002rzn.3	+	1	1189	c.687G>A	c.(685-687)gcG>gcA	p.A229A	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	229	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCACCACGCGAGCAGTGGCA	0.682000														45			20		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8130986	8130986	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8130986G>A	uc002mjf.3	-	62	8264	c.8247C>T	c.(8245-8247)ttC>ttT	p.F2749F	FBN3_uc002mje.3_Silent_p.F545F	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2749						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCATGCGAAAGAAACCTTGCT	0.692000														101			31		0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817655	7817655	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7817655G>A	uc001mfp.1	-	0	835	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCAACATGGGAATCACCACT	0.438000														107			30		0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	67017891	67017891	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67017891C>T	uc001ojw.3	+	16	3254	c.2390C>T	c.(2389-2391)tCg>tTg	p.S797L	KDM2A_uc001ojx.3_Intron|KDM2A_uc001ojy.3_Missense_Mutation_p.S491L|KDM2A_uc010rpn.2_Missense_Mutation_p.S358L|KDM2A_uc001ojz.1_Missense_Mutation_p.S255L|KDM2A_uc001oka.3_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ATCCGGGGATCGTACCTCACT	0.587000														75			28		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930755	46930755	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:46930755C>T	uc003gxg.3	-	8	2135	c.1152G>A	c.(1150-1152)ttG>ttA	p.L384L	GABRA4_uc021xnz.1_Silent_p.L365L|GABRA4_uc021xoa.1_Silent_p.L314L	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	384					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			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCTCATGTTCAAATTGGCAT	0.318000														43			16		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25399814	25399814	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25399814G>A	uc001upr.3	+	15	2190	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	RNF17_uc010tdd.1_Missense_Mutation_p.E576K|RNF17_uc010tde.2_Missense_Mutation_p.E717K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E656K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	717					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)		CTATAAAAGTGAAGATGGAGA	0.358000														100			36		0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258156	56258156	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56258156C>T	uc001nix.1	-	0	691	c.691G>A	c.(691-693)Gag>Aag	p.E231K	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGCCTGCCCTCTGTAGAGCGA	0.408000														89			11		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73682332	73682332	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:73682332C>T	uc002sje.1	+	8	7692	c.7581C>T	c.(7579-7581)tcC>tcT	p.S2527S	ALMS1_uc002sjf.1_Silent_p.S2485S|ALMS1_uc002sjg.3_Silent_p.S1915S|ALMS1_uc002sjh.1_Silent_p.S1915S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2527					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTGGATACTCCATTTCAGAAT	0.358000														131			16		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61262370	61262370	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61262370C>T	uc010xep.2	+	6	918	c.750C>T	c.(748-750)gaC>gaT	p.D250D	SERPINB13_uc002ljc.3_Silent_p.D241D|SERPINB13_uc002ljd.3_Silent_p.D105D|SERPINB13_uc010xeq.2_Silent_p.D62D|SERPINB13_uc010xer.2_Silent_p.D62D	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	241					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.N250N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AAAACAACGACCTAAGCATGT	0.428000														108			41		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091567	9091567	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9091567G>A	uc002mkp.3	-	0	452	c.248C>T	c.(247-249)tCc>tTc	p.S83F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	83	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						GAGAGCAGAGGACATCACCCC	0.532000														87			32		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179732833	179732833	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179732833C>T	uc002une.2	-	15	2612	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	CCDC141_uc002unf.1_Missense_Mutation_p.E311K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	257							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTTGCTTTTCCTGAGAGCAC	0.517000														64			26		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3888393	3888393	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:3888393G>A	uc003bpt.4	+	1	2829	c.2068G>A	c.(2068-2070)Ggt>Agt	p.G690S	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.G690S	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	690						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCTCTGGGAAGGTGACAGCGA	0.423000														38			25		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27151149	27151149	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27151149G>A	uc002rhu.4	+	4	785	c.627G>A	c.(625-627)ggG>ggA	p.G209G	DPYSL5_uc002rhv.4_Silent_p.G209G|DPYSL5_uc021vev.1_Silent_p.G209G	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	209					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGATTTGGGGATCACAGGCC	0.478000														36			11		0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36402445	36402445	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:36402445C>T	uc001uvf.3	-	9	1513	c.1230_splice	c.e9-1	p.R410_splice	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Splice_Site_p.R103_splice|DCLK1_uc010teh.2_Splice_Site_p.R103_splice|DCLK1_uc010abk.3_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	410	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AGCAGTCGATCTGCGAAGAGA	0.323000														29			15		0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140043562	140043562	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140043562G>A	uc004clk.3	+	4	1001	c.671_splice	c.e4+1	p.S224_splice	GRIN1_uc004cli.1_Splice_Site|GRIN1_uc004clj.1_Splice_Site_p.S221_splice|GRIN1_uc004cln.3_Splice_Site_p.S245_splice|GRIN1_uc004clo.3_Splice_Site_p.S245_splice|GRIN1_uc004clm.3_Splice_Site_p.S224_splice|GRIN1_uc004cll.3_Splice_Site_p.S224_splice	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	224					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TTTCTGCCAGGTGAGGCTGGG	0.602000														9			7		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126224649	126224649	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:126224649G>A	uc010hsi.2	-	7	762	c.708C>T	c.(706-708)atC>atT	p.I236I	UROC1_uc003eiz.2_Silent_p.I236I	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	236					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCAAGTCCTCGATGCCCAGGT	0.647000														41			15		0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102334726	102334726	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:102334726G>A	uc004eju.3	-	12	1196	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	NXF3_uc010noi.1_Silent_p.S225S	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	375	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GAATGCTCAGGGAGAAGCAGG	0.547000														39			47		0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9483820	9483820	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:9483820C>T	uc003brt.3	+	9	1403	c.968C>T	c.(967-969)cCc>cTc	p.P323L	SETD5_uc003brs.1_Missense_Mutation_p.P304L|SETD5_uc003bru.3_Missense_Mutation_p.P225L|SETD5_uc003brv.3_Missense_Mutation_p.P212L|SETD5_uc010hck.3_5'UTR|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.3_5'Flank	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	323	SET.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGACCATACCCCTTTGTGCTC	0.418000														20			7		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8807884	8807884	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8807884G>A	uc002mkl.2	-	0	1289	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	390						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						AAGGCGCGCAGGGAGGCCAGG	0.647000														50			22		0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96992898	96992898	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:96992898C>T	uc002svy.3	+	0	964	c.553C>T	c.(553-555)Caa>Taa	p.Q185*	ITPRIPL1_uc002svx.3_Nonsense_Mutation_p.Q177*|ITPRIPL1_uc010yuk.2_Nonsense_Mutation_p.Q169*|ITPRIPL1_uc010yul.2_Nonsense_Mutation_p.Q169*	NM_178495	NP_001156996	Q6GPH6	IPIL1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 1 (ITPRIPL1), transcript variant 1, mRNA.	177						integral to membrane		p.V184F(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACACTATGTCCAAAATGCCAT	0.547000														129			49		0	0	1	0	0
ADAM8	101	broad.mit.edu	37	10	135086808	135086808	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:135086808C>T	uc021qbe.1	-	5	609	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	ADAM8_uc009ybi.3_Missense_Mutation_p.G175S|ADAM8_uc010qva.2_Missense_Mutation_p.G136S|ADAM8_uc010qvb.1_Missense_Mutation_p.G150S|ADAM8_uc009ybj.2_Non-coding_Transcript	NM_001109	NP_001100	B4DVM6	B4DVM6_HUMAN	Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.	136					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	p.G175G(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		AGGAGGCTGCCCAGGCTGTCG	0.711000														5			3		0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135413078	135413078	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135413078G>A	uc004cbn.3	+	4	771	c.723G>A	c.(721-723)ctG>ctA	p.L241L	C9orf171_uc004cbo.3_Silent_p.L205L	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	241										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CCATCAAACTGGAGAAGAAGC	0.557000														77			28		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29642576	29642577	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:29642576_29642577CC>TT	uc001bru.3	+	24	3585_3586	c.3456_3457CC>TT	c.(3454-3459)atccct>atTTct	p.P1153S	PTPRU_uc009vtq.3_Missense_Mutation_p.P1149S|PTPRU_uc009vtr.3_Missense_Mutation_p.P1140S|PTPRU_uc001brw.3_Missense_Mutation_p.P1143S	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	1153					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AGACCACCATCCCTGTCAGTGA	0.554000														59			17		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5724456	5724456	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:5724456C>T	uc001qnm.2	-	17	1896	c.1824G>A	c.(1822-1824)ccG>ccA	p.P608P		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	613						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.E607E(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GTTCTGTTTTCGGAACCTCTG	0.458000														26			8		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28348673	28348673	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:28348673C>T	uc001iua.1	-	16	1609	c.1205_splice	c.e16-1	p.H402_splice	MPP7_uc009xkz.1_Splice_Site|MPP7_uc001iub.1_Splice_Site_p.H402_splice|MPP7_uc009xla.2_Splice_Site_p.H402_splice|MPP7_uc010qdv.1_Splice_Site	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	402	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTGGTGGTATCTATGATTTAA	0.338000														71			23		0	0	1	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839863	27839863	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:27839863C>T	uc003njy.3	-	0	237	c.231G>A	c.(229-231)caG>caA	p.Q77Q		NM_003533	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3i (HIST1H3I), mRNA.	77					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCTTAAAGTCCTGTGCGATCT	0.612000														128			19		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36122827	36122827	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:36122827T>A	uc003gsq.2	-	22	4206	c.3868A>T	c.(3868-3870)Att>Ttt	p.I1290F		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1290	Rho-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						TAATTATTAATTAGGTCCTCA	0.323000														61			17		0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92798992	92798992	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:92798992G>A	uc001dot.2	+	8	1609	c.1500G>A	c.(1498-1500)caG>caA	p.Q500Q	RPAP2_uc009wdh.2_Non-coding_Transcript	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	Homo sapiens RNA polymerase II associated protein 2 (RPAP2), mRNA.	500						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CCCAGAACCAGATTAGAAAAC	0.328000														78			14		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124596525	124596525	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124596525G>A	uc001lgs.3	-	6	1590	c.639C>T	c.(637-639)gcC>gcT	p.A213A	CUZD1_uc001lgp.3_5'UTR|CUZD1_uc009yad.3_5'UTR|CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_5'UTR|CUZD1_uc010qty.2_Intron|CUZD1_uc009yae.3_Intron|CUZD1_uc010qtz.2_Silent_p.A213A	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	213	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CATCATAGATGGCAAGAAAAT	0.443000														46			17		0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21588586	21588586	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:21588586C>T	uc002npw.3	+	2	300	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	ZNF493_uc002npu.3_Silent_p.L62L|ZNF493_uc002npx.3_Intron|ZNF493_uc002npy.3_5'UTR	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G60C(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TAAGCCAGATCTGGTCACCTG	0.408000														91			42		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56950108	56950108	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56950108G>A	uc001njl.2	+	0	888	c.741G>A	c.(739-741)atG>atA	p.M247I		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	217	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GCTGCACCATGGAACCCCTGC	0.632000														102			38		0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43959657	43959657	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43959657A>T	uc002zbj.3	+	5	1368	c.386A>T	c.(385-387)tAc>tTc	p.Y129F	SLC37A1_uc002zbi.3_Missense_Mutation_p.Y129F	NM_018964	NP_061837	P57057	GLPT_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 1 (SLC37A1), mRNA.	129					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						ATTAGGTATTACCTAACTTTC	0.507000														75			23		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451179	138451179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:138451179C>T	uc003ihe.4	-	0	2451	c.2064G>A	c.(2062-2064)atG>atA	p.M688I	PCDH18_uc003ihf.4_Missense_Mutation_p.M681I|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.M468I|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	688	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTACTGAAGTCATTGCTGTAC	0.408000														170			70		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38822908	38822908	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38822908C>T	uc003avs.1	-	1	1327	c.1230G>A	c.(1228-1230)gaG>gaA	p.E410E	KCNJ4_uc003avt.1_Silent_p.E410E|KCNJ4_uc021wpp.1_Silent_p.E410E	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	410					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity	p.E409E(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGATGCCCGCCTCCTCCTTGG	0.677000														116			46		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027420	9027420	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:9027420C>T	uc003brf.1	-	21	3759	c.3083G>A	c.(3082-3084)aGc>aAc	p.S1028N	SRGAP3_uc003brg.1_Missense_Mutation_p.S1004N	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	1028					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.R1027L(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGAGCTGCTGCTGCGGCGCAT	0.726000			T	RAF1	pilocytic astrocytoma									41			28		0	0	1	0	0
ZNF192	7745	broad.mit.edu	37	6	28121693	28121693	+	Silent	SNP	C	T	T	rs62638669	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28121693C>T	uc003nkn.1	+	5	1819	c.1635C>T	c.(1633-1635)ccC>ccT	p.P545P	ZNF192_uc010jqx.1_Silent_p.P545P|ZNF192_uc010jqy.1_Silent_p.P358P|ZNF192_uc011dkz.1_Silent_p.P358P	NM_006298	NP_006289	Q15776	ZN192_HUMAN	Homo sapiens zinc finger protein 192 (ZNF192), mRNA.	545					viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGGAGAAGCCCTACCAATGTA	0.423000														103			17		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248437015	248437015	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248437015C>T	uc010pzi.2	-	0	102	c.102G>A	c.(100-102)ttG>ttA	p.L34L		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V33I(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			ACAGGGAGGTCAAAACGATAC	0.493000														90			24		0	0	1	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19362866	19362866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:19362866C>T	uc011kyn.2	-	3	1544	c.480G>A	c.(478-480)gaG>gaA	p.E160E	CSGALNACT1_uc011kyo.2_Silent_p.E160E|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Silent_p.E160E|CSGALNACT1_uc003wzh.2_Non-coding_Transcript	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	160					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TAAGGCCAGTCTCCAGCTGGT	0.557000														37			29		0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160802361	160802361	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160802361C>T	uc009wtq.3	-	7	1205	c.980G>A	c.(979-981)gGa>gAa	p.G327E	CD244_uc001fxa.3_Missense_Mutation_p.G322E|CD244_uc009wtr.3_Missense_Mutation_p.G230E|CD244_uc009wtp.3_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	327					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTTCCTGGATCCAGACTAGAA	0.458000														57			24		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202461	140202461	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140202461C>T	uc003lhl.2	+	0	1101	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V	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_uc003lhk.1_Silent_p.V367V|PCDHAC2_uc003lhj.1_Silent_p.V367V	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	383					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)			TCAGCACGGTCATTGCTCTGA	0.537000														93			53		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153897363	153897363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:153897363C>T	uc003inf.2	+	10	2995	c.2920C>T	c.(2920-2922)Ccc>Tcc	p.P974S		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	974					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GAGGGACGTTCCCCTGCAGCC	0.662000														32			16		0	0	1	0	0
C6orf195	154386	broad.mit.edu	37	6	2624022	2624022	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:2624022G>A	uc003mtw.2	-	2	1020	c.35C>T	c.(34-36)cCc>cTc	p.P12L	C6orf195_uc021ykp.1_Missense_Mutation_p.P12L	NM_152554	NP_689767	Q96MT4	CF195_HUMAN	Homo sapiens chromosome 6 open reading frame 195 (C6orf195), mRNA.	12										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CTGCTTCCAGGGAATGTTCCT	0.507000														53			13		0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725215	87725215	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:87725215C>T	uc003pli.3	+	1	866	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	HTR1E_uc021zcg.1_Nonsense_Mutation_p.Q55*	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	55					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GAAGCTCCACCAGCCTGCCAA	0.542000														44			25		0	0	1	0	0
SH3BP5	9467	broad.mit.edu	37	3	15303785	15303785	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:15303785C>T	uc003bzp.1	-	4	696	c.507G>A	c.(505-507)gcG>gcA	p.A169A	SH3BP5_uc003bzq.1_Silent_p.A12A|SH3BP5_uc003bzr.1_Silent_p.A12A|AL133111_uc003bzo.1_Intron	NM_004844	NP_001018009	O60239	3BP5_HUMAN	Homo sapiens SH3-domain binding protein 5 (BTK-associated) (SH3BP5), transcript variant 1, mRNA.	169					intracellular signal transduction	mitochondrion	SH3 domain binding|protein kinase inhibitor activity			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						TGGTCTGCTCCGCCTCCATGA	0.498000														57			18		0	0	1	0	0
NRM	11270	broad.mit.edu	37	6	30658642	30658642	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30658642C>T	uc003nrc.3	-	0	417	c.110G>A	c.(109-111)gGg>gAg	p.G37E	PPP1R18_uc003nrb.4_5'Flank|NRM_uc003nre.3_5'UTR	NM_007243	NP_009174	Q8IXM6	NRM_HUMAN	Homo sapiens nurim (nuclear envelope membrane protein) (NRM), mRNA.	37						integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						CTCCGGGATCCCTCCAAGAAG	0.632000														164			35		0	0	1	0	0
MST4	51765	broad.mit.edu	37	X	131202542	131202542	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:131202542G>A	uc004ewk.1	+	5	843	c.542G>A	c.(541-543)gGa>gAa	p.G181E	MST4_uc004ewl.1_Missense_Mutation_p.G104E|MST4_uc011mux.1_Missense_Mutation_p.G203E|MST4_uc010nrj.1_Missense_Mutation_p.G181E|MST4_uc004ewm.1_Missense_Mutation_p.G181E	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	181	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ACCTTTGTGGGAACTCCATTT	0.378000														53			31		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155450702	155450702	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:155450702C>T	uc003qqb.3	+	5	1618	c.345C>T	c.(343-345)ggC>ggT	p.G115G	TIAM2_uc003qqe.3_Silent_p.G115G	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	115					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGAGAATGGCTTCCACTCTG	0.542000														19			17		0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122075732	122075732	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:122075732C>T	uc021xrj.1	-	7	776	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	TNIP3_uc010ing.3_Missense_Mutation_p.E156K|TNIP3_uc011cgj.2_Missense_Mutation_p.E226K|TNIP3_uc010ini.3_Missense_Mutation_p.E156K	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	156										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						ATTTCACATTCGTAATGTTCC	0.358000														73			29		0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7705860	7705860	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7705860C>T	uc010xjr.2	+	5	478	c.433C>T	c.(433-435)Cac>Tac	p.H145Y	STXBP2_uc002mha.4_Missense_Mutation_p.H134Y|STXBP2_uc002mhb.4_Missense_Mutation_p.H131Y|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc010dvl.2_Missense_Mutation_p.H295Y	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	134					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAAGGAGATTCACCTTGCCTT	0.627000														59			36		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106692098	106692098	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106692098G>A	uc021ser.1	-	1154		c.24988C>T								Parts of antibodies, mostly variable regions.																		TAGCAACAAGGAAAACCCAGC	0.483000														167			60		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80714267	80714267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:80714267G>A	uc001szd.3	+	32	3847	c.3841G>A	c.(3841-3843)Gat>Aat	p.D1281N		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CCATGACAATGATACTCTTAG	0.448000														38			9		0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101624234	101624234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:101624234C>T	uc003yjr.3	-	6	756	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	SNX31_uc011lha.2_5'UTR|SNX31_uc011lhb.2_Missense_Mutation_p.R103Q	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	202					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTACCACTTTCGGAGTCCAAC	0.468000														75			16		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52356612	52356612	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52356612C>T	uc011bef.2	+	1	415	c.154C>T	c.(154-156)Cct>Tct	p.P52S	DNAH1_uc003ddt.1_Missense_Mutation_p.P52S	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	52	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTTGGGAAATCCTCCAGCCCT	0.607000														54			17		0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21557827	21557827	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:21557827G>A	uc009zzs.3	-	4	2383	c.2018C>T	c.(2017-2019)aCc>aTc	p.T673I	LATS2_uc001unr.4_Missense_Mutation_p.T673I	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	673	Protein kinase.				G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GATCCCCAGGGTTTTGATCTT	0.488000														110			45		0	0	1	0	0
KLRC1	3821	broad.mit.edu	37	12	10603085	10603085	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10603085G>A	uc001qyl.3	-	2	495	c.281C>T	c.(280-282)cCc>cTc	p.P94L	KLRC1_uc009zhm.2_Missense_Mutation_p.P94L|KLRC1_uc001qym.3_Missense_Mutation_p.P94L|KLRC1_uc001qyn.3_Missense_Mutation_p.P94L|KLRC1_uc001qyo.3_Missense_Mutation_p.P94L	NM_002259	NP_998823	P26715	NKG2A_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA.	94					cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						AGACTTACAGGGAATAACAAC	0.383000														100			25		0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045401	142045401	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142045401C>T	uc003vxp.4	+	0	148	c.39C>T	c.(37-39)ctC>ctT	p.L13L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TTCTCTGTCTCCTGGGAGCGG	0.572000														151			50		0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150932029	150932029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:150932029G>A	uc003eyr.1	-	2	554	c.76C>T	c.(76-78)Cct>Tct	p.P26S	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.P26S|P2RY14_uc021xfz.1_Missense_Mutation_p.P26S	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	26						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TACAGCACAGGAATGATCTGC	0.458000														107			35		0	0	1	0	0
ANP32C	23520	broad.mit.edu	37	4	165118395	165118395	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:165118395C>T	uc011cjk.2	-	0	469	c.469G>A	c.(469-471)Gag>Aag	p.E157K	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	157	Asp/Glu-rich (highly acidic).									NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		ACGTGGTCCTCAATATCTGAG	0.537000														61			30		0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51043813	51043813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:51043813C>T	uc003bmx.3	+	6	1897	c.1780C>T	c.(1780-1782)Ctt>Ttt	p.L594F	MAPK8IP2_uc003bmy.3_Missense_Mutation_p.L567F|MAPK8IP2_uc011asc.2_5'UTR	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	595					MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTCCTTTGGCCTTTTCTCCTG	0.647000														38			6		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176934326	176934326	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176934326C>T	uc001glc.3	-	8	1783	c.1571G>A	c.(1570-1572)gGa>gAa	p.G524E	ASTN1_uc001glb.1_Missense_Mutation_p.G524E|ASTN1_uc001gld.1_Missense_Mutation_p.G524E|ASTN1_uc009wwx.1_Missense_Mutation_p.G524E	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	532					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGGCTGCTCTCCCAAAACCAG	0.418000														95			33		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159778902	159778902	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159778902G>A	uc001fud.4	+	3	513	c.471G>A	c.(469-471)caG>caA	p.Q157Q	FCRL6_uc010pix.1_3'UTR|FCRL6_uc001fuc.2_Silent_p.Q164Q|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.3_Silent_p.Q157Q	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	157	Ig-like C2-type 2.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					ACACCTTGCAGGACAGGGGCC	0.617000														65			15		0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156247733	156247733	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156247733T>A	uc001foc.4	-	2	429	c.280A>T	c.(280-282)Atc>Ttc	p.I94F		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	94					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTAGTCTTGATAAGCTGGATA	0.483000														201			77		0	0	1	0	0
HIGD2B	123346	broad.mit.edu	37	15	72968724	72968724	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72968724C>T	uc002ava.3	-	2		c.516G>A								Homo sapiens HIG1 hypoxia inducible domain family, member 2B (HIGD2B), non-coding RNA.																		ATGCCTAGGCCACAGCTGCAG	0.522000														25			6		0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19838896	19838896	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:19838896G>A	uc002zqg.3	-	1	1488	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S	GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.3_Missense_Mutation_p.P297S|C22orf29_uc002zqi.3_Missense_Mutation_p.P297S|C22orf29_uc021wli.1_Missense_Mutation_p.P297S	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	Homo sapiens chromosome 22 open reading frame 29 (C22orf29), mRNA.	297	Pro-rich.									NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					ACAGGTGTGGGGGCTGCCTCC	0.612000														37			22		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56345178	56345178	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56345178G>A	uc002ivt.3	+	12	2278	c.1962G>A	c.(1960-1962)acG>acA	p.T654T	LPO_uc010wns.2_Silent_p.T595T|LPO_uc010dcp.3_Silent_p.T571T|LPO_uc010dcq.3_Silent_p.T325T|LPO_uc010dcr.3_Silent_p.T217T	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	654					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGGTCTTCACGAACGAGCAGA	0.572000														50			21		0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56350260	56350260	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56350260G>A	uc002ivu.1	-	9	1818	c.1641C>T	c.(1639-1641)ctC>ctT	p.L547L		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	547					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	p.L547P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TGAGGCCCCGGAGGATGGGGT	0.572000														182			59		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350329	100350329	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100350329C>T	uc003uwj.3	+	13	2766	c.2601C>T	c.(2599-2601)tcC>tcT	p.S867S	ZAN_uc003uwk.3_Silent_p.S867S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	867	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACCATCTCCCCAGAAAAAC	0.483000														116			42		0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48800332	48800332	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:48800332C>T	uc002pir.2	-	13	2597	c.1914G>A	c.(1912-1914)tcG>tcA	p.S638S	CCDC114_uc002piq.2_Silent_p.S447S|CCDC114_uc002pio.3_3'UTR	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	638	Ser-rich.									cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GGCCTCCGCTCGAATCAGACG	0.672000														140			11		0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12496026	12496026	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:12496026C>T	uc001rai.1	-	2	481	c.223_splice	c.e2+1	p.G75_splice	MANSC1_uc001raj.1_Splice_Site_p.G41_splice	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	75	MANSC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CACTATTTACCTGATATGTTT	0.418000														78			37		0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86537848	86537848	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:86537848C>T	uc011kha.2	-	16	2556	c.2371G>A	c.(2371-2373)Gaa>Aaa	p.E791K	KIAA1324L_uc003uie.3_Missense_Mutation_p.E624K|KIAA1324L_uc011kgz.2_Missense_Mutation_p.E677K|KIAA1324L_uc003uif.2_Missense_Mutation_p.E543K	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	791						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AATGTGGTTTCAACTGTGACT	0.289000														63			34		0	0	1	0	0
NUP62CL	54830	broad.mit.edu	37	X	106396730	106396730	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:106396730G>A	uc004ena.3	-	5	608	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	NUP62CL_uc004enb.3_Non-coding_Transcript	NM_017681	NP_060151	Q9H1M0	N62CL_HUMAN	Homo sapiens nucleoporin 62kDa C-terminal like (NUP62CL), transcript variant 1, mRNA.	117					protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						TGTAAAATACGAATCTATAAA	0.259000														13			18		0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151671950	151671950	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:151671950G>A	uc011eep.2	+	3	2664	c.2424G>A	c.(2422-2424)aaG>aaA	p.K808K	AKAP12_uc003qoe.3_Silent_p.K808K|AKAP12_uc003qof.3_Silent_p.K710K|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Silent_p.K703K	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	808	AKAP 3.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TCTCAATCAAGAAGTTTATTC	0.498000														68			37		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916456	42916457	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42916456_42916457CC>TT	uc003cmh.3	-	0	1177_1178	c.852_853GG>AA	c.(850-855)cagggg>caAAgg	p.G285R	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	285					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	p.G285E(1)		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)		CCCGTGTTCCCCTGGGAGGCCC	0.579000														17			8		0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42161469	42161469	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42161469G>A	uc002xkn.1	+	4	479	c.348G>A	c.(346-348)atG>atA	p.M116I	L3MBTL1_uc010zwh.2_Missense_Mutation_p.M425I|L3MBTL1_uc002xkm.3_Missense_Mutation_p.M357I|L3MBTL1_uc010ggl.3_Missense_Mutation_p.M357I|L3MBTL1_uc002xkl.3_Missense_Mutation_p.M357I|L3MBTL1_uc002xko.3_Missense_Mutation_p.M9I	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	357					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			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TTGACCGCATGAACCCGTCCC	0.587000														212			17		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703723	4703723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4703723G>A	uc001lzk.2	-	1	463	c.219C>T	c.(217-219)tcC>tcT	p.S73S	OR51E2_uc021qcr.1_Silent_p.S73S	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S73F(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGTGGATGTGGATAAGGCCA	0.502000														70			24		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103898452	103898452	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:103898452C>T	uc001kum.3	+	2	458	c.419C>T	c.(418-420)tCt>tTt	p.S140F	PPRC1_uc001kun.3_Intron|PPRC1_uc010qqj.2_Missense_Mutation_p.S140F|PPRC1_uc009xxa.3_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AATGCAGATTCTGAGAACCTT	0.532000														54			25		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29754972	29754972	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29754972G>A	uc002rmy.3	-	3	1915	c.963C>T	c.(961-963)ctC>ctT	p.L321L		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	321	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TGTTGAGAAGGAGAAAGGAGC	0.537000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					36			13		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241700753	241700753	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241700753A>C	uc010fzk.3	-	23	2405	c.2158T>G	c.(2158-2160)Ttc>Gtc	p.F720V	KIF1A_uc002vzy.3_Missense_Mutation_p.F711V|KIF1A_uc002vzz.2_Missense_Mutation_p.F720V	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	711					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CACTTCCGGAAGGCCCAGAGC	0.622000														46			23		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130831552	130831552	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:130831552G>A	uc001uik.3	+	5	869	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	PIWIL1_uc001uij.2_Missense_Mutation_p.E200K	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	200					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTTAACAAATGAACTTCCACC	0.353000														66			8		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37325463	37325463	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37325463G>A	uc003aqa.4	+	4	628	c.411G>A	c.(409-411)agG>agA	p.R137R	CSF2RB_uc003aqc.4_Silent_p.R137R	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	137	Fibronectin type-III 1.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CTGAGCCCAGGGACCTGCAGA	0.642000														143			52		0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56650809	56650809	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56650809G>A	uc001skm.4	-	3	341	c.251C>T	c.(250-252)tCc>tTc	p.S84F	ANKRD52_uc001skn.1_Non-coding_Transcript	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	84							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CTCGTTTCGGGAGGCAGCAGC	0.498000														34			4		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22171710	22171710	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22171710C>T	uc021urr.1	-	2	153	c.4_splice	c.e2-1	p.G2_splice	ZNF208_uc002nqo.1_Splice_Site_p.G2_splice|ZNF208_uc002nqq.3_Splice_Site	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)				TGTCAATGATCCCTGGAAAAC	0.403000														156			52		0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9971349	9971349	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9971349C>T	uc002mmp.3	-	1	213	c.185G>A	c.(184-186)aGt>aAt	p.S62N		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	62						extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CAGCTCCCGACTCCTGCCATC	0.632000														11			3		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166900519	166900519	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166900519C>T	uc002udo.4	-	12	1930	c.1703G>A	c.(1702-1704)cGa>cAa	p.R568Q	SCN1A_uc010fpk.3_Missense_Mutation_p.R568Q|SCN1A_uc021vsb.1_Missense_Mutation_p.R568Q	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	568						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTGCTATTTCGCCTTGGTGA	0.418000														63			30		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423438	107423438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107423438C>T	uc003ver.2	-	9	1431	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	SLC26A3_uc003ves.2_Missense_Mutation_p.G372E	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	407					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TGTTTTGCCTCCTGTGCTCTC	0.468000														83			40		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233925273	233925273	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233925273C>T	uc010zmo.2	+	0	238	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F	INPP5D_uc010zmp.2_Missense_Mutation_p.L29F	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	29	SH2.				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	p.F28L(1)		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)		CGGGAGCTTCCTCGTGCGTGC	0.642000														32			12		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30898886	30898886	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:30898886C>T	uc003tbt.3	+	12	1768	c.1691C>T	c.(1690-1692)cCc>cTc	p.P564L	FAM188B_uc010kwe.3_Missense_Mutation_p.P535L|FAM188B_uc011kac.1_5'UTR|FAM188B_uc003tbu.3_Missense_Mutation_p.P84L	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	564										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAAGTGGGCCCCTATGGCTGC	0.592000														86			13		0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205306568	205306568	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205306568G>A	uc001hcf.1	-	5	1580	c.1012C>T	c.(1012-1014)Ctg>Ttg	p.L338L	KLHDC8A_uc010prg.1_Silent_p.L225L|KLHDC8A_uc001hcg.1_Silent_p.L338L	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	338										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCGTCACTCAGACCCTGGTTG	0.577000														112			32		0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990959	39990959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:39990959C>T	uc002xjy.1	-	3	1474	c.1250G>A	c.(1249-1251)gGg>gAg	p.G417E		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	417						proteinaceous extracellular matrix		p.A416A(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				AAGCTCATCCCCGGCCGGGGC	0.642000														106			7		0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45361850	45361850	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:45361850G>A	uc002ilj.3	+	3	423	c.403G>A	c.(403-405)Gat>Aat	p.D135N	ITGB3_uc002ili.1_Missense_Mutation_p.D135N|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	135	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GCAGGTGGAGGATTACCCTGT	0.468000														37			16		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38185201	38185201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:38185201C>T	uc009vvi.3	-	14	2727	c.2641G>A	c.(2641-2643)Gac>Aac	p.D881N	EPHA10_uc001cbt.3_Non-coding_Transcript|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	881	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCCAGCAGTCGAGCATTAGT	0.632000														50			9		0	0	1	0	0
CHKB	1120	broad.mit.edu	37	22	51017915	51017915	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:51017915G>A	uc003bmv.3	-	9	1271	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	CPT1B_uc003bmk.4_5'Flank|CPT1B_uc003bmm.3_5'Flank|CPT1B_uc003bml.3_5'Flank|CPT1B_uc003bmo.3_5'Flank|CPT1B_uc011asa.2_5'Flank|CPT1B_uc003bmn.3_5'Flank|CPT1B_uc011asb.2_5'Flank|CPT1B_uc003bmp.3_5'UTR|CPT1B_uc021wsc.1_Non-coding_Transcript|CHKB_uc003bmt.2_Silent_p.F142F|CHKB_uc003bmu.3_Silent_p.F230F	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	Homo sapiens choline kinase beta (CHKB), mRNA.	351					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	GACCCCAGAAGAAATGGGATG	0.562000														35			6		0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22700095	22700095	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:22700095G>A	uc001iri.3	+	9	1617	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	SPAG6_uc010qct.2_Missense_Mutation_p.E459K|SPAG6_uc009xkh.3_Missense_Mutation_p.E462K|SPAG6_uc001irj.3_Intron|SPAG6_uc021poe.1_Missense_Mutation_p.E210K	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	484					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TTACCCCGAGGAAATAGTGAG	0.363000														52			17		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9560965	9560965	+	Silent	SNP	G	A	A	rs142086015		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9560965G>A	uc002wnl.2	-	4	1362	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	PAK7_uc002wnk.2_Silent_p.L273L|PAK7_uc002wnj.2_Silent_p.L273L|PAK7_uc010gby.1_Silent_p.L273L	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	273	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTCTGATTCAGGTACGAAGAC	0.567000														90			35		0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136620245	136620245	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136620245G>A	uc002tuw.3	-	7	1228	c.1152C>T	c.(1150-1152)acC>acT	p.T384T		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	384	MCM.			PKTTGEGTSLR -> SKDNRRRDLSS (in Ref. 2; AAC50766).	DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CTCGAAGAGAGGTCCCTTCTC	0.453000														116			52		0	0	1	0	0
ACTL7A	10881	broad.mit.edu	37	9	111625524	111625524	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:111625524G>A	uc004bdj.1	+	0	922	c.922G>A	c.(922-924)Gag>Aag	p.E308K		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	Homo sapiens actin-like 7A (ACTL7A), mRNA.	308						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGATGGGAAGGAGATTCAGCT	0.542000														58			24		0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151672380	151672380	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:151672380G>A	uc011eep.2	+	3	3094	c.2854G>A	c.(2854-2856)Gaa>Aaa	p.E952K	AKAP12_uc003qoe.3_Missense_Mutation_p.E952K|AKAP12_uc003qof.3_Missense_Mutation_p.E854K|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Missense_Mutation_p.E847K	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	952					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CACGGTTACTGAACCTCTGCC	0.532000														72			25		0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145103957	145103957	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:145103957G>A	uc001eml.1	+	2	262	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) (SEC22B), mRNA.	42	Longin.				ER to Golgi vesicle-mediated transport|protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane|melanosome	protein binding										TAACTCTTTCGAAAGTTGAAT	0.393000														38			6		0	0	1	0	0
HAS1	3036	broad.mit.edu	37	19	52220383	52220383	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52220383C>T	uc002pxn.1	-	1	800	c.787G>A	c.(787-789)Gag>Aag	p.E263K	HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_Missense_Mutation_p.E221K|HAS1_uc002pxo.1_Missense_Mutation_p.E256K|HAS1_uc002pxp.1_Missense_Mutation_p.E255K	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	256					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CGGGGGTCCTCGTCCAGTACC	0.622000														89			30		0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144416946	144416946	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144416946G>A	uc003yxz.3	-	0	105	c.86C>T	c.(85-87)cCg>cTg	p.P29L	TOP1MT_uc011lkd.2_Intron|TOP1MT_uc011lke.2_Intron|TOP1MT_uc010mfd.1_5'UTR	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	29					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCGCGAGCCCGGGACACCCCG	0.741000														33			8		0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47162320	47162320	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:47162320G>A	uc003cqv.3	-	2	3859	c.3773C>T	c.(3772-3774)aCc>aTc	p.T1258I	SETD2_uc003cqs.3_Missense_Mutation_p.T1269I	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.N1257_H1259delNTH(1)|p.N1257_H1259del(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTGATACGTGGTAGAAGGCTT	0.463000			"""N, F, S, Mis"""		clear cell renal carcinoma									87			37		0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66359505	66359505	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66359505G>A	uc001oiq.4	-	0	1050	c.982C>T	c.(982-984)Cct>Tct	p.P328S	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	328										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGGAGTGGAGGAAGGCCCAAC	0.617000														66			12		0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54925375	54925375	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:54925375G>A	uc002iur.3	+	4	1017	c.837G>A	c.(835-837)ggG>ggA	p.G279G	DGKE_uc002ius.1_Silent_p.G279G	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	279	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTTGTGGAGGGGATGGGACTG	0.398000														77			16		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141010029	141010029	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:141010029C>T	uc004cog.3	+	40	5814	c.5669C>T	c.(5668-5670)cCt>cTt	p.P1890L	CACNA1B_uc022bqn.1_Missense_Mutation_p.P1890L|CACNA1B_uc004coi.3_Missense_Mutation_p.P1104L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1892					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTGTTCCACCCTCTGAAGGCC	0.607000														103			29		0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27360640	27360640	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27360640G>A	uc002rjb.2	-	2	1138	c.558C>T	c.(556-558)tcC>tcT	p.S186S	C2orf53_uc021vfb.1_Silent_p.S186S	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	186										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGGGACCCGGACCCAGTGT	0.637000														60			21		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127505	152127505	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152127505C>T	uc001ezs.1	-	2	2135	c.2070G>A	c.(2068-2070)caG>caA	p.Q690Q		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	690	Gln-rich.					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						TGGTCTGGGCCTGTCTGTGGC	0.527000														160			61		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44671797	44671797	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44671797C>T	uc010zxl.1	+	8	1217	c.1141C>T	c.(1141-1143)Ctc>Ttc	p.L381F	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.L358F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	381					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.L358I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACAGAGAACCTCTGGAGCTC	0.607000														162			76		0	0	1	0	0
ZNF192	7745	broad.mit.edu	37	6	28119655	28119655	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28119655C>T	uc003nkn.1	+	3	776	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	ZNF192_uc010jqx.1_Nonsense_Mutation_p.Q198*|ZNF192_uc010jqy.1_Nonsense_Mutation_p.Q11*|ZNF192_uc011dkz.1_Nonsense_Mutation_p.Q11*	NM_006298	NP_006289	Q15776	ZN192_HUMAN	Homo sapiens zinc finger protein 192 (ZNF192), mRNA.	198					viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TACTCGTTCCCAGAAAGGAAG	0.527000														76			37		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130846099	130846099	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:130846099G>A	uc001uik.3	+	15	2194	c.1923G>A	c.(1921-1923)cgG>cgA	p.R641R	PIWIL1_uc001uij.2_Silent_p.R641R	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	641	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CAGCTGGGCGGAGGTCAATCG	0.483000														98			14		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189931480	189931480	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189931480C>T	uc002uqk.3	-	21	1705	c.1430G>A	c.(1429-1431)gGa>gAa	p.G477E	COL5A2_uc010frx.3_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	477					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GCCAGCTTCTCCTTTGAAACC	0.378000														113			45		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6058963	6058963	+	Missense_Mutation	SNP	G	A	A	rs62643643		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6058963G>A	uc001qnn.1	-	50	8492	c.8242C>T	c.(8242-8244)Cac>Tac	p.H2748Y	VWF_uc010set.1_3'UTR	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2748	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	p.H2748N(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGGCAGTAGTGGATATCCACC	0.522000														90			25		0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011385	138011385	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:138011385C>T	uc010nar.3	+	5	838	c.819C>T	c.(817-819)ttC>ttT	p.F273F	OLFM1_uc004cfl.4_Silent_p.F255F|OLFM1_uc004cfn.4_Silent_p.F24F	NM_014279	NP_055094	Q99784	NOE1_HUMAN	Homo sapiens olfactomedin 1 (OLFM1), transcript variant 1, mRNA.	273	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		ACAACCGCTTCGTACGTGAGT	0.567000														60			27		0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96180974	96180974	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:96180974C>T	uc001tei.3	-	1	777	c.328G>A	c.(328-330)Gag>Aag	p.E110K	NTN4_uc009ztf.3_Missense_Mutation_p.E110K|NTN4_uc009ztg.3_Missense_Mutation_p.E73K	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	110	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TGCACATCCTCCGCAGACTGC	0.532000														46			18		0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62496099	62496099	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62496099G>A	uc010deh.2	-	12	1830	c.1787C>T	c.(1786-1788)cCt>cTt	p.P596L	POLG2_uc002jei.3_5'Flank|POLG2_uc010deg.2_5'Flank|DDX5_uc002jek.2_Missense_Mutation_p.P596L|DDX5_uc002jej.2_Missense_Mutation_p.P491L|DDX5_uc010wqa.1_Missense_Mutation_p.P517L	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	596					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TGCAGTAGCAGGATATGCATA	0.388000			T	ETV4	prostate									66			8		0	0	1	0	0
GPD1	2819	broad.mit.edu	37	12	50500108	50500108	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:50500108C>T	uc001rvz.3	+	3	431	c.398C>T	c.(397-399)tCg>tTg	p.S133L	GPD1_uc001rwa.3_Missense_Mutation_p.S110L	NM_005276	NP_005267	P21695	GPDA_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA.	133					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	AAGCTCATCTCGGAAGTGATT	0.617000														18			13		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120601056	120601056	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:120601056G>A	uc001txo.3	-	18	1869	c.1856C>T	c.(1855-1857)cCc>cTc	p.P619L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	619					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCCTCTAAGGGCAGCACCTG	0.572000														33			14		0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16962338	16962339	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16962338_16962339CC>TT	uc002ney.2	+	5	865_866	c.842_843CC>TT	c.(841-843)ccc>cTT	p.P281L	SIN3B_uc002new.3_Missense_Mutation_p.P281L|SIN3B_uc002nez.2_Missense_Mutation_p.P281L	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	281					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTGTCTGCACCCGCCAAGGTAC	0.673000														70			14		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057759	152057759	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152057759G>A	uc001ezo.1	-	2	2464	c.2399C>T	c.(2398-2400)cCa>cTa	p.P800L		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	800							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)			CTGGTATAGTGGACTGGAATA	0.488000														123			50		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99661607	99661607	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:99661607G>A	uc010nmz.3	-	0	3665	c.1989C>T	c.(1987-1989)tcC>tcT	p.S663S	PCDH19_uc004efw.4_Silent_p.S663S|PCDH19_uc004efx.4_Silent_p.S663S	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	663	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGAGAGCAGGGGACAAGTAGA	0.522000														14			6		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1096345	1096345	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1096345G>A	uc001lsx.1	+	35	6385	c.6358G>A	c.(6358-6360)Gac>Aac	p.D2120N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4486						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGGCTGGGGCGACCCGCACTA	0.662000														38			10		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631980	32631980	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:32631980G>A	uc003zrg.1	-	0	3688	c.3598C>T	c.(3598-3600)Cgc>Tgc	p.R1200C	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.	1200					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)		GTCTCACAGCGAACATACTCT	0.428000														142			15		0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102567208	102567208	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102567208C>T	uc001phd.1	-	5	819	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	266			E -> V (in dbSNP:rs1276286).		collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TTAGCAGGTTCCTTAGGCAGA	0.418000														69			27		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18674337	18674337	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:18674337C>T	uc003sui.3	+	6	925	c.884C>T	c.(883-885)tCg>tTg	p.S295L	HDAC9_uc003sue.3_Missense_Mutation_p.S292L|HDAC9_uc011jyd.2_Missense_Mutation_p.S292L|HDAC9_uc003suh.3_Missense_Mutation_p.S292L|HDAC9_uc003suj.3_Missense_Mutation_p.S251L|HDAC9_uc011jya.2_Missense_Mutation_p.S290L|HDAC9_uc003sua.1_Missense_Mutation_p.S270L|HDAC9_uc003sud.2_Missense_Mutation_p.S292L|HDAC9_uc011jyc.2_Missense_Mutation_p.S251L|HDAC9_uc011jyb.2_Missense_Mutation_p.S248L|HDAC9_uc003suf.2_Missense_Mutation_p.S323L|HDAC9_uc010kud.2_Missense_Mutation_p.S295L|HDAC9_uc011jye.2_Missense_Mutation_p.S264L|HDAC9_uc011jyf.2_Missense_Mutation_p.S215L|HDAC9_uc010kue.1_Missense_Mutation_p.S35L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	292	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AATGAGACTTCGGTTTTGCCC	0.403000														10			5		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43625191	43625192	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:43625191_43625192GG>AA	uc002rsw.4	-	28	4497_4498	c.4145_4146CC>TT	c.(4144-4146)acc>aTT	p.T1382I	THADA_uc010far.3_Missense_Mutation_p.T577I|THADA_uc002rsx.4_Missense_Mutation_p.T1382I|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.T1091I|THADA_uc010fat.1_Missense_Mutation_p.T529I	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1382							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GAGTTCGAATGGTATTAGGAAT	0.480000														72			50		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78413252	78413252	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:78413252G>A	uc001ozl.4	-	27	4869	c.4406C>T	c.(4405-4407)tCa>tTa	p.S1469L		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1469					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AGCGGTGGCTGACTCCAGGGT	0.567000														23			10		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168096465	168096465	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:168096465G>A	uc002udx.3	+	5	1048	c.959G>A	c.(958-960)gGa>gAa	p.G320E	XIRP2_uc010fpn.3_Missense_Mutation_p.G353E|XIRP2_uc010fpo.3_Missense_Mutation_p.G320E|XIRP2_uc002udy.3_Missense_Mutation_p.G145E|XIRP2_uc010fpq.3_Missense_Mutation_p.G98E|XIRP2_uc010fpr.3_Missense_Mutation_p.G98E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	145					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGTTCATGGAACAGAAATG	0.388000														35			22		0	0	1	0	0
ANP32C	23520	broad.mit.edu	37	4	165118513	165118513	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:165118513G>A	uc011cjk.2	-	0	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	117										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		CCTCGCAATTGAAAAGGTCTA	0.438000														134			59		0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44378052	44378052	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44378052C>T	uc002oxs.4	-	1	305	c.305G>A	c.(304-306)gGa>gAa	p.G102E		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	Homo sapiens zinc finger protein 404 (ZNF404), mRNA.	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				ACTAAAACATCCCACTTTAGG	0.328000														148			40		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83182714	83182714	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:83182714C>T	uc001paj.2	-	18	2389	c.2086G>A	c.(2086-2088)Gac>Aac	p.D696N	DLG2_uc001pai.2_Missense_Mutation_p.D575N|DLG2_uc010rsy.1_Missense_Mutation_p.D645N|DLG2_uc021qof.1_Missense_Mutation_p.D735N|DLG2_uc010rsz.1_Missense_Mutation_p.D692N|DLG2_uc010rta.1_Missense_Mutation_p.D678N|DLG2_uc001pak.2_Missense_Mutation_p.D801N|DLG2_uc010rtb.1_Missense_Mutation_p.D663N|DLG2_uc010rsx.1_Missense_Mutation_p.D173N|DLG2_uc010rsw.1_Missense_Mutation_p.D160N	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	696	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GATATCAAGTCGTCATTGATC	0.428000														40			14		0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110018217	110018217	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110018217C>T	uc001dxp.3	+	2	510	c.144C>T	c.(142-144)ttC>ttT	p.F48F	SYPL2_uc001dxo.2_Silent_p.F48F|SYPL2_uc010ovk.2_Silent_p.F48F|SYPL2_uc001dxq.2_5'Flank	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	Homo sapiens synaptophysin-like 2 (SYPL2), mRNA.	48	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTGCTATTTTCGCCTTCGGGT	0.547000														57			20		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73486830	73486830	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73486830C>T	uc010wsa.2	+	9	1341	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V	KIAA0195_uc002jnz.4_Silent_p.V373V|KIAA0195_uc010wsb.2_Silent_p.V25V	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	373					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGAGGCTGTCTCCTCTCAGG	0.557000														37			15		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49706729	49706729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:49706729C>T	uc003jom.3	-	3	703	c.454G>A	c.(454-456)Gga>Aga	p.G152R	EMB_uc003jol.3_Missense_Mutation_p.G83R|EMB_uc011cpy.2_Missense_Mutation_p.G102R	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	152	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTAAATGTTCCCCTTTGTTCC	0.284000														51			4		0	0	1	0	0
CCDC134	79879	broad.mit.edu	37	22	42204930	42204930	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:42204930C>T	uc003bbh.1	+	1	145	c.36C>T	c.(34-36)gtC>gtT	p.V12V	bK250D10.C22.8_uc003bba.1_Intron|CCDC134_uc011apg.1_Silent_p.V12V	NM_024821	NP_079097	Q9H6E4	CC134_HUMAN	Homo sapiens coiled-coil domain containing 134 (CCDC134), mRNA.	12						extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						TCCTCTTTGTCCTGCTTTTGT	0.493000														92			19		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57070091	57070091	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57070091G>A	uc001njr.3	-	5	4837	c.4525C>T	c.(4525-4527)Ccg>Tcg	p.P1509S	TNKS1BP1_uc001njq.3_Missense_Mutation_p.P81S|TNKS1BP1_uc001njs.3_Missense_Mutation_p.P1509S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1509	Acidic.|Tankyrase-binding.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCAGGCTGCGGCCTCCAGGAG	0.672000														26			4		0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79190701	79190701	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:79190701G>A	uc001vkw.1	-	5	1254	c.1195C>T	c.(1195-1197)Cag>Tag	p.Q399*	BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Nonsense_Mutation_p.Q209*	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	399							zinc ion binding	p.Q399E(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GTACTGAGCTGAAGGCAACTA	0.423000														132			43		0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705578	101705578	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:101705578C>T	uc021oqt.1	+	0	1038	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A	S1PR1_uc001dud.2_Silent_p.A346A|S1PR1_uc009weg.2_Silent_p.A346A	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	346					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CCATCATCGCCGGCATGGAAT	0.552000														184			10		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902127	51902127	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:51902127G>A	uc002iua.2	+	0	1889	c.1733G>A	c.(1732-1734)aGg>aAg	p.R578K	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	578					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.Q577*(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCCCTTCAGAGGGATGAATTT	0.418000														63			32		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35923030	35923030	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:35923030G>A	uc003olm.3	-	16	2242	c.2131C>T	c.(2131-2133)Cct>Tct	p.P711S	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.P293S|SLC26A8_uc003oll.3_Missense_Mutation_p.P606S|SLC26A8_uc003oln.3_Missense_Mutation_p.P711S	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	711	Interaction with RACGAP1.|STAS.				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						TCTGAGTAAGGGATGAGTGAT	0.507000														63			27		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771318	143771318	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143771318G>A	uc011ktx.2	+	0	6	c.6G>A	c.(4-6)ggG>ggA	p.G2G		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GGGAAATGGGGGGAAATCAGA	0.443000														98			25		0	0	1	0	0
FEZF2	55079	broad.mit.edu	37	3	62358297	62358297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:62358297C>T	uc003dlh.2	-	0	454	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	FEZF2_uc003dli.2_Missense_Mutation_p.V83M	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	Homo sapiens FEZ family zinc finger 2 (FEZF2), mRNA.	83					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		TTTGACGGCACCTCGTAGCCT	0.706000														46			18		0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130341178	130341178	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:130341178G>A	uc010scd.2	+	6	1978	c.1978G>A	c.(1978-1980)Gat>Aat	p.D660N		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	660	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGCTGGCTGTGATGGGAACCT	0.567000														54			9		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71510219	71510219	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71510219G>A	uc011caw.1	+	8	3357	c.3076G>A	c.(3076-3078)Gaa>Aaa	p.E1026K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	1026					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	p.E1026Q(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TACACCTGATGAAGGCTCCAA	0.433000														93			20		0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891650	5891650	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:5891650C>T	uc002kmx.1	-	0	454	c.413G>A	c.(412-414)cGa>cAa	p.R138Q		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	138						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GGAGGCGGCTCGTGCTGGAGG	0.652000														50			12		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61391751	61391751	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61391751C>T	uc002jal.4	+	7	963	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	TANC2_uc010wpe.2_Missense_Mutation_p.R224C	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	314							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CCTTTCAGTTCGCTTTGCACC	0.438000														40			24		0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42830653	42830653	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:42830653G>A	uc010goq.3	+	14	2303	c.1957G>A	c.(1957-1959)Gct>Act	p.A653T	MX1_uc002yzh.3_Missense_Mutation_p.A653T|MX1_uc002yzi.3_Missense_Mutation_p.A653T	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	653	GED.				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCTGACGCAGGCTCGGCGCCG	0.652000														54			8		0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57043060	57043060	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:57043060G>A	uc002iwx.3	+	2	716	c.589G>A	c.(589-591)Gag>Aag	p.E197K	PPM1E_uc010ddd.3_Intron	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	206					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CACAGAGATTGAGACAGTGAA	0.463000														300			112		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024324	76024324	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:76024324C>T	uc010kbe.3	-	5	1763	c.1233G>A	c.(1231-1233)agG>agA	p.R411R	FILIP1_uc003phy.1_Silent_p.R408R|FILIP1_uc003phz.3_Silent_p.R309R|FILIP1_uc003pia.3_Silent_p.R408R|FILIP1_uc003pib.1_Silent_p.R160R	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	408										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GCAGCTTCTTCCTCAATTCCC	0.428000														152			14		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171083178	171083178	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171083178G>A	uc001ghi.3	+	6	970	c.859G>A	c.(859-861)Gag>Aag	p.E287K	FMO3_uc001ghh.3_Missense_Mutation_p.E287K|FMO3_uc010pmb.2_Missense_Mutation_p.E267K|FMO3_uc010pmc.2_Missense_Mutation_p.E224K	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	287					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTTAACGATGAGCTCCCAGC	0.413000														48			22		0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65829159	65829159	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65829159G>A	uc001ogy.1	+	14	1822	c.1782G>A	c.(1780-1782)ggG>ggA	p.G594G		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	594					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TCCCTCAGGGGAAGGAGTTCG	0.502000														48			17		0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110465872	110465872	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110465872C>T	uc001dyu.2	+	5	1042	c.629C>T	c.(628-630)cCc>cTc	p.P210L	CSF1_uc001dyt.2_Missense_Mutation_p.P210L|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Missense_Mutation_p.P210L|CSF1_uc021orj.1_Intron	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	210					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCTCATCAGCCCCTCGCCCCC	0.617000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		103			26		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73479976	73479976	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:73479976G>A	uc003xzb.3	+	1	595	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	3					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)			CAAAATGGCAGAAAAGGCTCC	0.512000														90			42		0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209961772	209961772	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:209961772G>A	uc001hhq.2	-	8	1701	c.1397C>T	c.(1396-1398)cCc>cTc	p.P466L	IRF6_uc010psm.2_Missense_Mutation_p.P371L	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	466					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CAATTACTGGGGAGGCAGGGC	0.458000										HNSCC(57;0.16)				43			16		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169116292	169116292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:169116292C>T	uc003maf.3	+	8	878	c.798C>T	c.(796-798)ttC>ttT	p.F266F	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	266					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.G265D(1)|p.G265C(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)			GCCGGGGCTTCCCTAAGGAGA	0.522000														56			17		0	0	1	0	0
CLDN17	26285	broad.mit.edu	37	21	31538872	31538872	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:31538872G>A	uc011acv.2	-	0	100	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F		NM_012131	NP_036263	P56750	CLD17_HUMAN	Homo sapiens claudin 17 (CLDN17), mRNA.	22					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GTTGTGGCAAGAGTCCCCACC	0.483000														66			24		0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987862	50987862	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50987862C>T	uc003bmi.3	+	0	1401	c.1267C>T	c.(1267-1269)Ccg>Tcg	p.P423S		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	Homo sapiens kelch domain containing 7B (KLHDC7B), mRNA.	423										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGCTACGACCCGCGAACAGA	0.687000														109			24		0	0	1	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45993752	45993752	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45993752C>T	uc002zfk.1	+	0	147	c.117C>T	c.(115-117)ccC>ccT	p.P39P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	39	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCTGCGAGCCCCCCTGCTGCG	0.701000														66			7		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82785261	82785261	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82785261C>T	uc003uhx.2	-	1	985	c.696G>A	c.(694-696)caG>caA	p.Q232Q	PCLO_uc003uhv.2_Silent_p.Q232Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	232	Gln-rich.|Pro-rich.				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						GAGTGCCATCCTGCTGAAGCG	0.468000														31			17		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65178682	65178682	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:65178682G>A	uc002lke.1	-	1	4418	c.3194C>T	c.(3193-3195)cCa>cTa	p.P1065L	DSEL_uc021ulg.1_Missense_Mutation_p.P1065L	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	1055						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TAAATGCTCTGGTACATTCTT	0.358000														50			26		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182392099	182392099	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:182392099G>A	uc002unu.3	+	21	3178	c.2415G>A	c.(2413-2415)atG>atA	p.M805I	ITGA4_uc010frj.1_Missense_Mutation_p.M287I|ITGA4_uc002unv.3_Missense_Mutation_p.M50I	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	805					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGGAGAAAATGAACTTAACTT	0.333000														62			19		0	0	1	0	0
TRIM50	135892	broad.mit.edu	37	7	72738612	72738612	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:72738612C>T	uc003txy.1	-	1	375	c.174G>A	c.(172-174)caG>caA	p.Q58Q	FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Silent_p.Q58Q|TRIM50_uc003txz.1_Silent_p.Q58Q	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	Homo sapiens tripartite motif containing 50 (TRIM50), mRNA.	58						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CGTCCACCGCCTGCCGGCACA	0.687000											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			22		0	0	1	0	0
GRAP2	9402	broad.mit.edu	37	22	40351840	40351840	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:40351840G>A	uc003ayh.2	+	2	359	c.96G>A	c.(94-96)gaG>gaA	p.E32E	GRAP2_uc011aom.2_Intron|GRAP2_uc011aon.2_Intron|GRAP2_uc010gya.2_Silent_p.E32E|GRAP2_uc011aoo.2_Intron|GRAP2_uc011aop.2_Silent_p.E32E|GRAP2_uc011aoq.2_Intron|GRAP2_uc003ayj.2_Silent_p.E32E	NM_004810	NP_004801	O75791	GRAP2_HUMAN	Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.	32	SH3 1.				Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway|cell-cell signaling	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GTAACCAAGAGGAGTGGTTTA	0.458000														60			6		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8656896	8656896	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8656896C>T	uc002mkj.1	-	13	1953	c.1679G>A	c.(1678-1680)aGc>aAc	p.S560N	ADAMTS10_uc002mki.1_Missense_Mutation_p.A51T|ADAMTS10_uc002mkk.1_Missense_Mutation_p.S192N	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	560	TSP type-1 1.				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						ACAGGTCCGGCTGCAGTCGCC	0.711000														33			11		0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7711159	7711159	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7711159G>A	uc010xjr.2	+	15	1459	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K	STXBP2_uc002mha.4_Missense_Mutation_p.E461K|STXBP2_uc002mhb.4_Missense_Mutation_p.E458K|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_Missense_Mutation_p.E89K	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	461					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CAGCCGGCTGGAGCCGAGAGA	0.672000														5			3		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994117	140994117	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140994117C>T	uc004fbt.3	+	3	1251	c.927C>T	c.(925-927)tcC>tcT	p.S309S	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.	309				SSS -> PSF (in Ref. 2; AAC24227).			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)					CTGTGAGCTCCTCCTCCTCCT	0.478000										HNSCC(15;0.026)				126			135		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967584	41967584	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:41967584G>A	uc010skn.2	+	9	3011	c.3003G>A	c.(3001-3003)aaG>aaA	p.K1001K	PDZRN4_uc001rmq.4_Silent_p.K743K|PDZRN4_uc009zjz.3_Silent_p.K741K|PDZRN4_uc001rmr.3_Silent_p.K628K	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	1001							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGAGAAACAAGAAAATTTTGG	0.458000														36			10		0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37603671	37603671	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37603671C>T	uc003ara.3	-	1	234	c.172G>A	c.(172-174)Ggc>Agc	p.G58S	SSTR3_uc003arb.3_Missense_Mutation_p.G58S|SSTR3_uc021wos.1_Missense_Mutation_p.G58S	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	58					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CCCAGCAGGCCCACCACGCAC	0.657000														105			40		0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728090	20728090	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:20728090G>A	uc002npa.3	-	3	1099	c.919C>T	c.(919-921)Cat>Tat	p.H307Y		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	307					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCTCCGCTATGAATTATCTTA	0.408000														56			20		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316985	30316985	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:30316985C>T	uc009xle.2	-	2	2229	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	KIAA1462_uc001iux.3_Missense_Mutation_p.E698K|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.E560K	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	698										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTTTGGGGCTCCTCGGAGAAA	0.547000														46			14		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186026368	186026368	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:186026368C>T	uc001grq.1	+	45	7376	c.7147C>T	c.(7147-7149)Cct>Tct	p.P2383S		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2383					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCTTACAGCTCCTCCAAGCAT	0.368000														49			19		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71795107	71795107	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71795107C>T	uc010fen.3	+	24	2733	c.2592C>T	c.(2590-2592)gcC>gcT	p.A864A	DYSF_uc010fei.3_Silent_p.A863A|DYSF_uc010feh.3_Silent_p.A832A|DYSF_uc002sig.4_Silent_p.A832A|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.A877A|DYSF_uc010fee.3_Silent_p.A846A|DYSF_uc010fef.3_Silent_p.A863A|DYSF_uc002sie.3_Silent_p.A846A|DYSF_uc010feo.3_Silent_p.A878A|DYSF_uc010fej.3_Silent_p.A833A|DYSF_uc010fel.3_Silent_p.A833A|DYSF_uc010fem.3_Silent_p.A847A|DYSF_uc002sif.3_Silent_p.A847A|DYSF_uc010fek.3_Silent_p.A864A	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	846						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGCCTGGCGCCCGGATGCCAG	0.572000														65			35		0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774643	100774643	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:100774643C>T	uc010svi.2	+	1	579	c.266C>T	c.(265-267)tCc>tTc	p.S89F	SLC17A8_uc009ztx.3_Missense_Mutation_p.S89F	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	89					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.I88N(1)|p.S89T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTCTGCATTTCCTTTGGGATC	0.517000														127			28		0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119014811	119014811	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:119014811C>T	uc001ldd.2	+	6	887	c.724C>T	c.(724-726)Ctc>Ttc	p.L242F	SLC18A2_uc009xyy.2_Missense_Mutation_p.L39F	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	242					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CGGGAGTGTGCTCTATGAGTT	0.602000														45			12		0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52901670	52901670	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:52901670C>T	uc010ugf.2	-	4	1596	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	FAM214A_uc002acg.4_Missense_Mutation_p.E481K|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Missense_Mutation_p.E393K	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	481								p.E481K(1)									TCTTGCCGCTCCTGGAGTAAA	0.428000														164			12		0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48049607	48049607	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:48049607C>T	uc004diz.1	-	6	604	c.551G>A	c.(550-552)gGa>gAa	p.G184E	SSX5_uc004dja.1_Missense_Mutation_p.G143E	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	143				Q -> P (in Ref. 1; AAC05821).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						ATTTAGTTTTCCTGAGGGGCG	0.483000														42			64		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368848	86368848	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:86368848C>T	uc001vll.1	-	1	2255	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q	SLITRK6_uc021rla.1_Missense_Mutation_p.R599Q	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	599						integral to membrane		p.R599*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CGTAAGAGATCGTAAAATAGT	0.418000														119			38		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2908728	2908728	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:2908728C>T	uc010ckd.3	+	14	1356	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	RAP1GAP2_uc010cke.3_Silent_p.F407F	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	422	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCCCCGTTTTCCAGAAGGTAG	0.572000														146			24		0	0	1	0	0
RPS24	6229	broad.mit.edu	37	10	79795386	79795386	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:79795386C>T	uc001jzs.3	+	2	329	c.187C>T	c.(187-189)Cat>Tat	p.H63Y	RPS24_uc010qlo.2_Missense_Mutation_p.H63Y|RPS24_uc001jzp.3_Missense_Mutation_p.H63Y|RPS24_uc001jzq.3_Missense_Mutation_p.H63Y	NM_001142285	NP_001135757	P62847	RS24_HUMAN	Homo sapiens ribosomal protein S24 (RPS24), transcript variant d, mRNA.	63					endocrine pancreas development|erythrocyte homeostasis|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	nucleotide binding|structural constituent of ribosome|translation initiation factor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			ATTCAGAACTCATTTTGGTGG	0.433000														187			65		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215910690	215910690	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:215910690C>T	uc002vew.3	-	6	963	c.743G>A	c.(742-744)aGa>aAa	p.R248K	ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	248					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGACAGCATTCTGACTATTTC	0.373000														64			22		0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92915537	92915537	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:92915537C>T	uc001yak.3	+	9	880	c.857C>T	c.(856-858)cCt>cTt	p.P286L	SLC24A4_uc001yai.3_Missense_Mutation_p.P222L|SLC24A4_uc010twm.2_Intron|SLC24A4_uc010auj.3_Intron|SLC24A4_uc010twn.2_Missense_Mutation_p.P42L|AX747894_uc001yal.1_Non-coding_Transcript	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	286						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TATGATGACCCTTCCGTGCCA	0.502000														40			16		0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50906815	50906815	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50906815C>T	uc010eny.3	+	8	1204	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	POLD1_uc002psb.4_Silent_p.F401F|POLD1_uc002psc.4_Silent_p.F401F|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	401					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding	p.F401F(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TCCAGAACTTCGACCTTCCGT	0.627000								DNA polymerases (catalytic subunits)						135			61		0	0	1	0	0
TUBB3	10381	broad.mit.edu	37	16	90001895	90001895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:90001895C>T	uc002fpf.2	+	4	2485	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	TUBB3_uc010ciz.1_Missense_Mutation_p.P274S|TUBB3_uc002fph.2_Missense_Mutation_p.P346S|TUBB3_uc002fpj.1_Missense_Mutation_p.P274S|TUBB3_uc002fpk.1_Missense_Mutation_p.P200S	NM_006086	NP_006077	Q13509	TBB3_HUMAN	Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.	346					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGAGTGGATCCCCAACAACGT	0.612000														177			51		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107083658	107083658	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:107083658G>A	uc021ser.1	-	129		c.5593C>T								Parts of antibodies, mostly variable regions.																		GCTGCCACCAGGAGAAGGAAG	0.507000														71			18		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5757925	5757925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:5757925G>A	uc002mda.3	+	13	1411	c.1350G>A	c.(1348-1350)ggG>ggA	p.G450G	CATSPERD_uc010duj.1_Silent_p.G108G	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	450						integral to membrane											CATCAGATGGGAACACCAAGT	0.567000														37			18		0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1556972	1556972	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1556972C>T	uc002cly.3	+	17	2437	c.2146C>T	c.(2146-2148)Ctc>Ttc	p.L716F		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	716						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GACCTTCGACCTCTTGGGAGA	0.657000														26			4		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55444962	55444962	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55444962G>A	uc002qih.4	-	7	2693	c.2617C>T	c.(2617-2619)Cct>Tct	p.P873S	NLRP7_uc010esk.3_Missense_Mutation_p.P873S|NLRP7_uc002qig.4_Missense_Mutation_p.P845S|NLRP7_uc002qii.4_Missense_Mutation_p.P873S|NLRP7_uc010esl.3_Missense_Mutation_p.P901S	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	873							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTACAATCAGGGTAACTCAAG	0.483000														53			15		0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223465938	223465938	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:223465938C>T	uc001hnx.3	-	1	838	c.204G>A	c.(202-204)agG>agA	p.R68R	SUSD4_uc001hny.4_Silent_p.R68R|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Silent_p.R68R|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	68	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CGCTGGGGGTCCTGAAGCCAT	0.507000														80			25		0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55362421	55362421	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:55362421C>T	uc002lgw.3	-	9	1042	c.922G>A	c.(922-924)Ggc>Agc	p.G308S	LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	308			G -> D (in BRIC1; dbSNP:rs28939685).|G -> V (in PFIC1; dbSNP:rs28939685).		ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				ATGACTAAGCCGTGGCAGAAA	0.383000														57			29		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31595112	31595112	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:31595112C>T	uc002rnv.1	-	16	1917	c.1838G>A	c.(1837-1839)cGg>cAg	p.R613Q		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	613					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGCGTGGGCCCGGGTGCTGGT	0.622000														149			51		0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58036612	58036612	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:58036612G>A	uc021rtp.1	-	5	1066	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Silent_p.F217F	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAAGGAGATGAAGATCAAAT	0.483000														12			4		0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18192171	18192171	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:18192171C>T	uc004cyj.4	-	11	2114	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	BEND2_uc010nfb.2_Missense_Mutation_p.E563K	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	654										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CCAGGTTCCTCTGGATTATCA	0.378000														13			20		0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77918525	77918525	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:77918525G>A	uc002ffg.1	+	6	1000	c.903G>A	c.(901-903)gtG>gtA	p.V301V		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	301							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						TGGAGAAGGTGAACCCCATCA	0.512000														15			10		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70933777	70933777	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70933777G>A	uc001swb.4	-	21	4996	c.4966C>T	c.(4966-4968)Cgt>Tgt	p.R1656C	PTPRB_uc010sto.2_Missense_Mutation_p.R1566C|PTPRB_uc010stp.2_Missense_Mutation_p.R1566C|PTPRB_uc001swc.4_Missense_Mutation_p.R1874C|PTPRB_uc001swa.4_Missense_Mutation_p.R1786C	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1656					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGCTCAGACGGGCAGAGGGT	0.418000														31			10		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153884264	153884264	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:153884264C>T	uc003inf.2	+	6	1086	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	337	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGATGAATCTCCTGCACTTTG	0.438000														99			48		0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69095033	69095033	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69095033C>T	uc003hdw.4	-	7	1024	c.888G>A	c.(886-888)atG>atA	p.M296I		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	296	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CTGAGAGCTTCATTTTGGCTT	0.378000														80			37		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873178	55873178	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55873178C>T	uc010riy.2	+	0	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V219L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CCTATGTGTTCATTCTCTTTA	0.403000										HNSCC(53;0.14)				124			55		0	0	1	0	0
EFHA2	286097	broad.mit.edu	37	8	16961987	16961987	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:16961987G>A	uc003wxd.2	+	9	1114	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	Homo sapiens EF-hand domain family, member A2 (EFHA2), mRNA.	358						integral to membrane	calcium ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(4)	23				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		GCTCAACTTTGAAGATTTTTA	0.294000														68			33		0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35587930	35587930	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:35587930C>T	uc011dte.1	-	3	575	c.372G>A	c.(370-372)tcG>tcA	p.S124S	FKBP5_uc003okx.2_Silent_p.S124S|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Silent_p.S124S|FKBP5_uc003okz.2_Silent_p.S124S	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	124	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GAGTTGCATTCGAGGGAATTT	0.453000														83			33		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19656605	19656605	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19656605C>T	uc002nmw.4	+	7	3354	c.3269C>T	c.(3268-3270)tCc>tTc	p.S1090F	CILP2_uc002nmv.4_Missense_Mutation_p.S1084F	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	1084						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TTTGATGGTTCCTCTGACGGC	0.627000														14			9		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307420	140307420	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140307420G>A	uc003lih.2	+	0	1119	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.E315K	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	340	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGGGACGAAGGTGTCTT	0.547000														133			54		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612091	189612091	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:189612091C>T	uc003fry.2	+	13	1932	c.1843C>T	c.(1843-1845)Cat>Tat	p.H615Y	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.H521Y|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.H436Y	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	615	Transactivation inhibition.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTCCCCTTCTCATCTCCTGCG	0.572000										HNSCC(45;0.13)				73			35		0	0	1	0	0
RASA4	10156	broad.mit.edu	37	7	102246372	102246372	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:102246372G>A	uc003vae.3	-	4	430	c.361C>T	c.(361-363)Cac>Tac	p.H121Y	RASA4_uc011kla.2_Missense_Mutation_p.H49Y|RASA4_uc010lig.3_Missense_Mutation_p.H49Y|RASA4_uc003vaf.3_Missense_Mutation_p.H121Y|RASA4_uc011klb.2_Missense_Mutation_p.H49Y|RASA4_uc010lih.2_5'UTR|RASA4_uc011kld.1_Intron	NM_006989	NP_008920	O43374	RASL2_HUMAN	Homo sapiens RAS p21 protein activator 4 (RASA4), transcript variant 1, mRNA.	121					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytosol|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						AGCCGCAGGTGGATCTCGCCC	0.716000														24			12		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404786	10404786	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10404786C>T	uc002gmo.3	-	26	3473	c.3379G>A	c.(3379-3381)Gag>Aag	p.E1127K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1127						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CGCTCTGCCTCGATTTCCTCC	0.542000														32			30		0	0	1	0	0
ZW10	9183	broad.mit.edu	37	11	113614568	113614568	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113614568G>A	uc001poe.3	-	9	1564	c.1467C>T	c.(1465-1467)ctC>ctT	p.L489L	ZW10_uc009yyv.3_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.	489					ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TCTGATAGGCGAGTTCCATTA	0.403000														125			33		0	0	1	0	0
ZNF192	7745	broad.mit.edu	37	6	28121356	28121356	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28121356C>T	uc003nkn.1	+	5	1482	c.1298C>T	c.(1297-1299)cCc>cTc	p.P433L	ZNF192_uc010jqx.1_Missense_Mutation_p.P433L|ZNF192_uc010jqy.1_Missense_Mutation_p.P246L|ZNF192_uc011dkz.1_Missense_Mutation_p.P246L	NM_006298	NP_006289	Q15776	ZN192_HUMAN	Homo sapiens zinc finger protein 192 (ZNF192), mRNA.	433					viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGAGAGAGACCCTATGAATGT	0.498000														123			11		0	0	1	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46102014	46102014	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46102014C>T	uc002zfv.3	-	0	65	c.25G>A	c.(25-27)Ggc>Agc	p.G9S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181686	NP_859014	P59990	KR121_HUMAN	Homo sapiens keratin associated protein 12-1 (KRTAP12-1), mRNA.	9						keratin filament				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						GGCTGGCAGCCCGAGGAGCAG	0.657000														46			19		0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299230	158299230	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158299230C>T	uc001frx.3	-	3	924	c.816G>A	c.(814-816)ggG>ggA	p.G272G	CD1B_uc001frw.3_Intron	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	272	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CAGCCGCCTCCCCATCTGCCA	0.587000														84			24		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169696962	169696962	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169696962C>T	uc001ggm.4	-	8	1543	c.1386G>A	c.(1384-1386)gaG>gaA	p.E462E	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	462	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CAAATCCCTCCTCACAGCTGA	0.502000														118			33		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200786	132200786	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:132200786C>T	uc002tst.2	-	0	1682	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		ACCTTGCACTCCCGGAGGAAC	0.632000														16			5		0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177036456	177036456	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:177036456G>A	uc002ukt.1	+	2	929	c.753G>A	c.(751-753)aaG>aaA	p.K251K		NM_006898	NP_008829	P31249	HXD3_HUMAN	Homo sapiens homeobox D3 (HOXD3), mRNA.	251					Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		AGTACAAGAAGGACCAGAAGG	0.662000														89			37		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140777335	140777335	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140777335G>A	uc004cog.3	+	3	675	c.530_splice	c.e3+1	p.G177_splice	AK128414_uc004cof.1_Non-coding_Transcript|CACNA1B_uc022bqn.1_Splice_Site_p.G177_splice	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	177					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTCCTCACAGGGTAGGCAAGC	0.622000														221			37		0	0	1	0	0
WBP1	23559	broad.mit.edu	37	2	74687629	74687629	+	Missense_Mutation	SNP	G	A	A	rs143637433	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74687629G>A	uc002slj.2	+	3	834	c.631G>A	c.(631-633)Gac>Aac	p.D211N	INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	211							WW domain binding	p.G210G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						TTTAACTGGCGACTCCGGTAT	0.652000														150			76		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42237142	42237142	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:42237142C>T	uc003ose.2	-	4	750	c.187G>A	c.(187-189)Gat>Aat	p.D63N	TRERF1_uc011duq.1_Missense_Mutation_p.D63N|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.D63N	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	63					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCAGACCATCCCGTGTATCT	0.587000														108			28		0	0	1	0	0
ADA	100	broad.mit.edu	37	20	43257798	43257798	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43257798G>A	uc002xmj.3	-	2	236	c.108C>T	c.(106-108)atC>atT	p.I36I		NM_000022	NP_000013	P00813	ADA_HUMAN	Homo sapiens adenosine deaminase (ADA), mRNA.	36					T cell activation|adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CTGGGAGGGCGATCCCTCTCC	0.597000									Adenosine Deaminase Deficiency					42			21		0	0	1	0	0
KIAA0240	23506	broad.mit.edu	37	6	42833145	42833145	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:42833145C>T	uc003osn.1	+	12	3352	c.3201C>T	c.(3199-3201)tcC>tcT	p.S1067S	KIAA0240_uc011duw.1_Silent_p.S1067S|KIAA0240_uc003osp.1_Silent_p.S1067S	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	1067										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			AAACTGACTCCATTTTAGAAG	0.512000														115			45		0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100192536	100192536	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:100192536C>T	uc001ygo.3	+	13	1275	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	CYP46A1_uc001ygp.3_Silent_p.F262F	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	425					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGCCACGGTTCACCTACTTCC	0.607000														47			15		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41559078	41559078	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:41559078C>T	uc003xok.3	-	21	2535	c.2451G>A	c.(2449-2451)tcG>tcA	p.S817S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.S125S|ANK1_uc003xoi.3_Silent_p.S817S|ANK1_uc003xoj.3_Silent_p.S817S|ANK1_uc003xol.3_Silent_p.S817S|ANK1_uc003xom.3_Silent_p.S850S	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	817	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTTCATCTTCCGAGACATCCA	0.517000											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			18		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834329	61834329	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61834329C>T	uc001jky.3	-	36	6648	c.6310G>A	c.(6310-6312)Gga>Aga	p.G2104R	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.	2104					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						GTATCTGTTCCAAAAAAGGAA	0.408000														88			31		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700041	136700041	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:136700041G>A	uc003vtf.1	+	3	1052	c.429G>A	c.(427-429)atG>atA	p.M143I	CHRM2_uc003vtg.1_Missense_Mutation_p.M143I|CHRM2_uc003vti.1_Missense_Mutation_p.M143I|CHRM2_uc003vtm.1_Missense_Mutation_p.M143I|CHRM2_uc003vtj.1_Missense_Mutation_p.M143I|CHRM2_uc003vtk.1_Missense_Mutation_p.M143I|CHRM2_uc003vtl.1_Missense_Mutation_p.M143I|CHRM2_uc003vtn.1_Missense_Mutation_p.M143I|CHRM2_uc003vto.1_Missense_Mutation_p.M143I|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.M143I	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	143					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CAGGTATGATGATTGCAGCTG	0.502000														90			41		0	0	1	0	0
RBM43	375287	broad.mit.edu	37	2	152107524	152107524	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152107524G>A	uc002txh.3	-	3	1118	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	Homo sapiens RNA binding motif protein 43 (RBM43), mRNA.	324							RNA binding|nucleotide binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AGGTTAATCAGGACTTCAAGG	0.343000														91			32		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98916675	98916675	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:98916675G>A	uc002syo.3	+	24	3680	c.3416G>A	c.(3415-3417)cGg>cAg	p.R1139Q	VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.R796Q|VWA3B_uc002syp.1_Missense_Mutation_p.R531Q|VWA3B_uc002syq.1_Missense_Mutation_p.R415Q|VWA3B_uc002syr.1_Missense_Mutation_p.R456Q|VWA3B_uc002sys.3_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	1139										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTAACAACCGGAGAGTAAGT	0.448000														105			44		0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44691437	44691437	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44691437G>A	uc002xrd.3	-	6	1770	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	NCOA5_uc002xrc.3_3'UTR|NCOA5_uc002xre.3_Silent_p.L414L	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TAGCAGAGGGGAGCACTTGGC	0.617000														110			44		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885004	29885004	+	Missense_Mutation	SNP	G	A	A	rs59297913		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:29885004G>A	uc003afo.3	+	3	1446	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	KIAA0845_uc003afp.3_5'Flank	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	459	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GATTGTGGAGGAACAGACAGA	0.478000														48			17		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7655151	7655151	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7655151C>T	uc001qsz.3	-	1	184	c.56G>A	c.(55-57)aGa>aAa	p.R19K	CD163_uc001qta.3_Missense_Mutation_p.R19K|CD163_uc009zfw.2_Missense_Mutation_p.R19K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	19					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						gacaaaatgtcttctgaagtc	0.383000														9			3		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155498001	155498001	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:155498001G>A	uc003qqb.3	+	11	3686	c.2413G>A	c.(2413-2415)Gac>Aac	p.D805N	TIAM2_uc003qqe.3_Missense_Mutation_p.D805N|TIAM2_uc010kjj.3_Missense_Mutation_p.D338N|TIAM2_uc003qqf.3_Missense_Mutation_p.D181N|TIAM2_uc011efl.1_Missense_Mutation_p.D141N|TIAM2_uc003qqg.3_Missense_Mutation_p.D117N	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	805					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGTTCCCCGAGACAATGCATG	0.403000														71			57		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209807849	209807849	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:209807849C>T	uc001hhg.3	-	4	897	c.507G>A	c.(505-507)caG>caA	p.Q169Q	LAMB3_uc009xco.3_Silent_p.Q169Q|LAMB3_uc001hhh.3_Silent_p.Q169Q|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Intron	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	169	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ACCGAACATCCTGCCAGCTCT	0.607000														97			23		0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3040254	3040254	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:3040254C>T	uc001qlj.2	+	5	625	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	TULP3_uc010sef.1_Non-coding_Transcript|TULP3_uc009zec.1_5'UTR|TULP3_uc010seh.1_Silent_p.L182L|TULP3_uc010sei.1_Silent_p.L39L	NM_001160408	NP_001153880	O75386	TULP3_HUMAN	Homo sapiens tubby like protein 3 (TULP3), transcript variant 2, mRNA.	182					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TGATAACCTCCTGGGAGACAT	0.512000														86			38		0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47422304	47422305	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:47422304_47422305CC>TT	uc002zhu.1	+	31	2341_2342	c.2239_2240CC>TT	c.(2239-2241)ccc>TTc	p.P747F	COL6A1_uc002zhv.1_Missense_Mutation_p.P78F	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	747	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCTCTGCAGCCCCGGCATCCAG	0.703000														7			4		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56096685	56096685	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56096685G>A	uc001shh.3	-	2	605	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	ITGA7_uc001shg.3_Missense_Mutation_p.R129W|ITGA7_uc010sps.2_Intron|ITGA7_uc009znx.3_Missense_Mutation_p.R16W	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	129					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	p.R129W(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCTGGCTCCGAACACTGACT	0.522000														82			15		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21136605	21136605	+	Missense_Mutation	SNP	C	T	T	rs139455188	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21136605C>T	uc010vbe.2	-	8	1295	c.1295G>A	c.(1294-1296)cGa>cAa	p.R432Q	DNAH3_uc002die.2_Missense_Mutation_p.R403Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	432	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R432Q(3)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCAATGTTTCGACTTGAGTC	0.473000														84			21		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109793637	109793637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:109793637C>T	uc010agk.2	+	31	5699	c.5077C>T	c.(5077-5079)Ccc>Tcc	p.P1693S	MYO16_uc001vqt.1_Missense_Mutation_p.P1671S	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1671					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCTCAGCAGCCCCCTGGACGA	0.672000														16			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13867921	13867921	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13867921G>A	uc003jfd.2	-	24	4057	c.4015C>T	c.(4015-4017)Ctc>Ttc	p.L1339F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1339	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F1338F(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAATCTTGGAGGAATACCTCC	0.448000									Kartagener syndrome					92			39		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144994645	144994645	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144994645G>A	uc003zaf.1	-	31	9925	c.9755C>T	c.(9754-9756)tCc>tTc	p.S3252F	PLEC_uc003zab.1_Missense_Mutation_p.S3115F|PLEC_uc003zac.1_Missense_Mutation_p.S3119F|PLEC_uc003zad.2_Missense_Mutation_p.S3115F|PLEC_uc003zae.1_Missense_Mutation_p.S3083F|PLEC_uc003zag.1_Missense_Mutation_p.S3093F|PLEC_uc003zah.2_Missense_Mutation_p.S3101F|PLEC_uc003zaj.2_Missense_Mutation_p.S3142F	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3252	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGGAACAGGGAGACGCTCTG	0.657000														21			5		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130878039	130878039	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:130878039G>A	uc010fmh.2	-	2	450	c.50C>T	c.(49-51)cCa>cTa	p.P17L		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	17						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GAGACCAAATGGCTTCTTCAC	0.562000														184			18		0	0	1	0	0
RNF141	50862	broad.mit.edu	37	11	10555624	10555624	+	Nonsense_Mutation	SNP	G	A	A	rs144898917		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:10555624G>A	uc001mis.1	-	1	235	c.82C>T	c.(82-84)Cga>Tga	p.R28*	RNF141_uc009yga.1_Non-coding_Transcript	NM_016422	NP_057506	Q8WVD5	RN141_HUMAN	Homo sapiens ring finger protein 141 (RNF141), mRNA.	28							zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		CCACTCTCTCGAACCAACGTA	0.383000														119			58		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049324	36049324	+	Silent	SNP	G	A	A	rs148290056	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:36049324G>A	uc003jjz.2	-	3	642	c.510C>T	c.(508-510)ttC>ttT	p.F170F	UGT3A2_uc011cos.2_Silent_p.F136F|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	170						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAAAGAGCCGAATGAAGTGG	0.453000														63			33		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39425979	39425979	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:39425979G>A	uc001uwv.3	+	10	7208	c.6899G>A	c.(6898-6900)gGa>gAa	p.G2300E	FREM2_uc001uww.3_Missense_Mutation_p.G386E	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2300	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCCACCTCTGGAGAAGACTAC	0.527000														43			17		0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413721	72413721	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:72413721C>T	uc003twk.2	+	10	3189	c.3189C>T	c.(3187-3189)gtC>gtT	p.V1063V	POM121_uc003twj.3_Silent_p.V798V|POM121_uc010lam.1_Silent_p.V798V	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1063	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCACTGCTGTCTTCTTCGGTG	0.662000														60			11		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31282318	31282318	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31282318C>T	uc002ebr.3	+	5	569	c.471C>T	c.(469-471)ggC>ggT	p.G157G	ITGAM_uc002ebq.3_Silent_p.G157G	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	157	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TGATTGATGGCTCTGGTAGCA	0.458000														218			59		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5687648	5687648	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:5687648G>A	uc001qnm.2	-	21	2342	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	762						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CAGGGGAAAGGAGGCCACGAA	0.542000														24			4		0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89521767	89521767	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:89521767G>A	uc001dmx.2	-	7	1520	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	434					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.R434C(2)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		ACAAAGAGACGATAGCCCCCT	0.428000														342			121		0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38040710	38040710	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38040710C>T	uc003ati.3	+	7	1423	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_Missense_Mutation_p.R229C|SH3BP1_uc003ath.1_Missense_Mutation_p.R229C|SH3BP1_uc003atj.1_Missense_Mutation_p.R165C|SH3BP1_uc003atk.1_Missense_Mutation_p.R143C|AK097791_uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	229	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CTACTTCATTCGTGTGAGTCC	0.582000														214			49		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646787	57646787	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57646787G>A	uc002qnz.1	-	4	1304	c.918C>T	c.(916-918)ccC>ccT	p.P306P		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TACATTGAAAGGGTTTTTGTC	0.383000														149			45		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124311371	124311371	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124311371G>A	uc001uft.4	+	23	3988	c.3963G>A	c.(3961-3963)ttG>ttA	p.L1321L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1321	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCTACTACTTGGAAGCAAAAA	0.453000														60			40		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480303	10480303	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10480303C>T	uc003wtc.3	-	1	638	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	137					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)		CCTGGGGCTTCACGCTGGCCT	0.602000														51			25		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41496173	41496173	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41496173C>T	uc002yyq.1	-	19	4097	c.3645G>A	c.(3643-3645)ctG>ctA	p.L1215L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1215	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGATGCCGTTCAGCTTGAGAG	0.567000														156			23		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152708338	152708338	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:152708338G>A	uc021zhb.1	-	51	8579	c.8356C>T	c.(8356-8358)Cac>Tac	p.H2786Y	SYNE1_uc003qot.4_Missense_Mutation_p.H2793Y|SYNE1_uc003qou.4_Missense_Mutation_p.H2786Y|SYNE1_uc010kjb.1_Missense_Mutation_p.H2769Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2786					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCTCGTGTGATCTTCTGCC	0.493000										HNSCC(10;0.0054)				76			47		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62542622	62542622	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:62542622C>T	uc010ihh.3	+	2	521	c.348C>T	c.(346-348)taC>taT	p.Y116Y	LPHN3_uc003hcq.4_Silent_p.Y116Y|LPHN3_uc010ihg.1_Silent_p.Y184Y	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	116	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCTATAAATACCTTGAAGTGC	0.398000														194			47		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256738	240256738	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240256738C>T	uc010pye.2	+	0	1554	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	FMN2_uc010pyd.2_Silent_p.I443I	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	443					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCCCCAGGATCAAGAGGCGGC	0.682000														95			17		0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39824183	39824183	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:39824183C>T	uc003axt.3	+	9	1351	c.1302C>T	c.(1300-1302)ctC>ctT	p.L434L	TAB1_uc003axr.3_Silent_p.L510L|TAB1_uc011aok.2_Silent_p.L268L|TAB1_uc003axu.1_Silent_p.L434L	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	434					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|activation of MAPKKK 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	catalytic activity|protein binding	p.T433fs*9(1)|p.T433I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CCCCCACCCTCACCAAGTAAG	0.637000														50			14		0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27499923	27499923	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:27499923G>A	uc001itr.1	-	8	1111	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	ACBD5_uc010qdm.2_Missense_Mutation_p.R340C|ACBD5_uc010qdn.2_Missense_Mutation_p.R233C|ACBD5_uc010qdo.2_Missense_Mutation_p.R165C|ACBD5_uc010qdp.2_Missense_Mutation_p.R342C|ACBD5_uc001ito.3_Missense_Mutation_p.R307C|ACBD5_uc001itp.3_Missense_Mutation_p.R233C|ACBD5_uc001itq.3_Missense_Mutation_p.R233C			Q5T8D3	ACBD5_HUMAN	Homo sapiens acyl-CoA binding domain containing 5 (ACBD5), transcript variant 3, non-coding RNA.	351					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	p.R307C(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATATCTTCACGAAATCCAGAA	0.418000														169			67		0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17318747	17318748	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17318747_17318748GG>AA	uc001baa.2	-	17	2185_2186	c.1995_1996CC>TT	c.(1993-1998)aacccc>aaTTcc	p.P666S	ATP13A2_uc001bac.2_Missense_Mutation_p.P661S|ATP13A2_uc001bab.2_Missense_Mutation_p.P661S	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	666					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCTGTCTCGGGGTTGCAGAGCC	0.673000														25			16		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536242	90536242	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90536242G>A	uc010mqi.3	+	3	1449	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N	FAM75C1_uc004apq.4_Missense_Mutation_p.D457N	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		AGAGTCTCTGGATCTGATGCA	0.537000														62			17		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716446	142716446	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:142716446C>T	uc022cfm.1	-	0	2479	c.2479G>A	c.(2479-2481)Gtc>Atc	p.V827I	SLITRK4_uc022cfl.1_Missense_Mutation_p.V827I|SLITRK4_uc004fbx.3_Missense_Mutation_p.V827I|SLITRK4_uc004fby.3_Missense_Mutation_p.V827I	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	827						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAAGGACCTGTAGGTAG	0.403000														24			36		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48338023	48338023	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48338023C>T	uc003toq.2	+	22	9284	c.9260C>T	c.(9259-9261)tCc>tTc	p.S3087F	ABCA13_uc010kys.1_Missense_Mutation_p.S161F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3087					transport	integral to membrane	ATP binding|ATPase activity	p.A3087A(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTCGCTCTTCCATCCAAATC	0.368000														32			23		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32181595	32181595	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32181595C>T	uc003obb.3	-	13	2329	c.2190G>A	c.(2188-2190)atG>atA	p.M730I	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	730	EGF-like 19.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GACAAGCTGTCATCTCCTCAC	0.597000														38			15		0	0	1	0	0
FAM81B	153643	broad.mit.edu	37	5	94772575	94772575	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:94772575G>A	uc003kla.1	+	6	904	c.858G>A	c.(856-858)ggG>ggA	p.G286G	FAM81B_uc010jbe.1_Silent_p.G82G	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	286										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TGGTCCAGGGGGATTATCGCC	0.398000														50			18		0	0	1	0	0
GLB1L	79411	broad.mit.edu	37	2	220107272	220107272	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220107272G>A	uc002vkm.3	-	4	654	c.415C>T	c.(415-417)Cga>Tga	p.R139*	GLB1L_uc002vkk.3_5'Flank|GLB1L_uc010zkx.2_Nonsense_Mutation_p.R139*|GLB1L_uc002vkn.3_Nonsense_Mutation_p.R139*|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.2_5'Flank|STK16_uc010fwf.3_5'Flank|STK16_uc002vkp.2_5'Flank	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	139					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.R139Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGGTTTTCGAAGCAACCAG	0.443000														105			48		0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36370056	36370056	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36370056C>T	uc002oce.3	+	15	1929	c.1791C>T	c.(1789-1791)gtC>gtT	p.V597V	APLP1_uc010xsz.2_Silent_p.V558V|APLP1_uc002ocf.3_Silent_p.V598V|APLP1_uc002ocg.3_Silent_p.V501V|APLP1_uc010xta.2_Silent_p.V591V	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	597					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	p.L596H(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTCATCGTCCTCTCCATGC	0.642000														46			27		0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66479913	66479913	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:66479913C>T	uc003juy.2	-	2	906	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	253					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	p.L252L(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CTCAAATGTTCCCAGCCAGAG	0.438000														60			26		0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239010666	239010666	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:239010666G>A	uc002vxq.4	+	1	489	c.379G>A	c.(379-381)Ggc>Agc	p.G127S		NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	127										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTCCACGAGGGCCACTCGGC	0.701000														17			3		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6267018	6267018	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:6267018C>T	uc003mwv.3	-	3	467	c.344G>A	c.(343-345)gGa>gAa	p.G115E	F13A1_uc011dib.2_Missense_Mutation_p.G52E	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	115					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GATGTAGGTTCCCTTGTTCTC	0.463000														124			59		0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149075934	149075934	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:149075934G>A	uc003ilj.4	-	4	2496	c.2133C>T	c.(2131-2133)atC>atT	p.I711I	NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	711	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.I711S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTGCAGGAGCGATGTACGTTG	0.577000														102			45		0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15480430	15480430	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:15480430G>A	uc002wou.3	+	7	847	c.583G>A	c.(583-585)Gag>Aag	p.E195K	MACROD2_uc002wot.3_Missense_Mutation_p.E195K|MACROD2_uc002woz.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	195	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTTTCCCAACGAGCCTGCTGC	0.443000														54			22		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97658696	97658696	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:97658696C>T	uc001drv.3	-	19	2688	c.2551G>A	c.(2551-2553)Gga>Aga	p.G851R		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	851					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GGACTCTGTCCATCCCAGTCT	0.448000														62			32		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100821706	100821706	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:100821706G>A	uc003yiv.3	+	43	8231	c.8120G>A	c.(8119-8121)cGa>cAa	p.R2707Q	VPS13B_uc003yiw.3_Missense_Mutation_p.R2682Q	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2707					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)			TACAGGGGTCGAACTGCTTCT	0.438000														59			37		0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211264	59211264	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59211264C>T	uc001nnx.1	+	0	623	c.623C>T	c.(622-624)aCt>aTt	p.T208I		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTGGTGGTCACTGTCGGAGGA	0.527000														144			47		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	23264783	23264783	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:23264783C>T	uc021wml.1	+	445		c.18252C>T								Parts of antibodies, mostly variable regions.																		CAAGGCTGCCCCCTCGGTCAC	0.622000														60			17		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596500	11596500	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11596500C>T	uc001ash.4	+	20	4074	c.3936C>T	c.(3934-3936)atC>atT	p.I1312I		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1312					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)		TCTGCATCATCGCCCCATTTG	0.637000														69			27		0	0	1	0	0
PDZK1IP1	10158	broad.mit.edu	37	1	47653014	47653014	+	Silent	SNP	G	A	A	rs17850898		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47653014G>A	uc001cqw.3	-	1	320	c.153C>T	c.(151-153)aaC>aaT	p.N51N		NM_005764	NP_005755	Q13113	PDZ1I_HUMAN	Homo sapiens PDZK1 interacting protein 1 (PDZK1IP1), mRNA.	51				N -> K (in Ref. 5; AAH12303).		integral to membrane				endometrium(1)|lung(1)|prostate(1)	3						ACCAGAAGTGGTTGACTGCAA	0.612000														38			14		0	0	1	0	0
NPBWR1	2831	broad.mit.edu	37	8	53852583	53852583	+	Missense_Mutation	SNP	C	T	T	rs145057890		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:53852583C>T	uc011ldu.2	+	0	116	c.116C>T	c.(115-117)gCt>gTt	p.A39V		NM_005285	NP_005276	P48145	NPBW1_HUMAN	Homo sapiens neuropeptides B/W receptor 1 (NPBWR1), mRNA.	39					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CTGGCGGTGGCTGTACCAGTT	0.716000														22			11		0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865121	118865121	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:118865121G>A	uc003ecb.1	+	0	125	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.G29S	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	29								p.G29G(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CCACACTAAGGGCCAGGAAGA	0.567000														36			15		0	0	1	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292806	4292806	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4292806C>T	uc002lzx.2	-	4	685	c.639G>A	c.(637-639)ggG>ggA	p.G213G	TMIGD2_uc021umz.1_Missense_Mutation_p.G97E|TMIGD2_uc021una.1_Missense_Mutation_p.G45E|TMIGD2_uc010dtv.2_Silent_p.G209G	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	213						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGGTCCTTCCCCTCTCCAG	0.622000														105			8		0	0	1	0	0
RNF175	285533	broad.mit.edu	37	4	154633721	154633721	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:154633721C>T	uc003int.3	-	7	1145	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K		NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	Homo sapiens ring finger protein 175 (RNF175), mRNA.	258						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				ATGCAGAATTCATGAAAGCTG	0.438000														20			3		0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113698904	113698904	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:113698904C>T	uc003kqo.3	+	0	889	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	144						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TCGGCATGTTCGGCATCGTGG	0.612000														37			9		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156812901	156812901	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156812901G>A	uc010pht.2	-	16	3320	c.3021C>T	c.(3019-3021)tcC>tcT	p.S1007S	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1007	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCACGGGTGTGGACTCCTCTC	0.572000														52			16		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93104242	93104242	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:93104242A>T	uc001pdq.3	+	6	685	c.585A>T	c.(583-585)aaA>aaT	p.K195N	CCDC67_uc001pdo.1_Missense_Mutation_p.K195N|CCDC67_uc001pdp.3_Missense_Mutation_p.K195N	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	195										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TAAATGGTAAAAAACAGTGCT	0.328000														21			15		0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118588247	118588247	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:118588247C>T	uc003pxx.4	+	3	768	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	189					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCATCGGCATCGTTGTCTGCA	0.532000														160			94		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872953	55872953	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55872953C>T	uc010riy.2	+	0	435	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TCGCTCTCATCACTGGGCCTT	0.448000										HNSCC(53;0.14)				199			71		0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41137716	41137716	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41137716G>A	uc002yyo.3	+	2	458	c.355G>A	c.(355-357)Ggg>Agg	p.G119R		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	119	Ig-like V-type 1.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CAGTGATTCGGGGAACATCAG	0.542000														21			15		0	0	1	0	0
PDLIM4	8572	broad.mit.edu	37	5	131607227	131607227	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:131607227G>A	uc003kwo.3	+	4	815	c.738G>A	c.(736-738)gcG>gcA	p.A246A	BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Intron|PDLIM4_uc003kwp.3_Intron	NM_003687	NP_003678	P50479	PDLI4_HUMAN	Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA.	0							protein binding|zinc ion binding	p.P245P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCCCCTAGCGACCCCACGTC	0.677000														11			10		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167060643	167060643	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:167060643C>T	uc010fpl.3	-	25	4904	c.4563G>A	c.(4561-4563)atG>atA	p.M1521I	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1532						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTTCTACCATCATGGTTACCA	0.343000														53			12		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11631223	11631223	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11631223C>T	uc002gne.3	+	27	5866	c.5798C>T	c.(5797-5799)tCa>tTa	p.S1933L	DNAH9_uc010coo.3_Missense_Mutation_p.S1227L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1933	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L1932*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGGTCTTGTCAGTGGTGGCA	0.493000														20			19		0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31652321	31652321	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31652321C>T	uc002wym.1	+	6	711	c.711C>T	c.(709-711)ctC>ctT	p.L237L		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	237	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										CATTGCCTCTCATCTCCAACC	0.587000														44			11		0	0	1	0	0
ANKRD13B	124930	broad.mit.edu	37	17	27935057	27935057	+	Missense_Mutation	SNP	C	T	T	rs148007819		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:27935057C>T	uc002hei.3	+	2	417	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	ANKRD13B_uc002heh.3_Intron|ANKRD13B_uc002hej.3_Non-coding_Transcript	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	Homo sapiens ankyrin repeat domain 13B (ANKRD13B), mRNA.	102										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						GCTGGTGCTTCGGTACCGGGA	0.682000														21			14		0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	110053528	110053528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:110053528C>T	uc010ywt.1	+	6	1754	c.1754C>T	c.(1753-1755)tCg>tTg	p.S585L		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	585							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CCCACAGCCTCGCCCCCAACA	0.682000														28			11		0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48626319	48626319	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48626319C>T	uc002ird.3	+	4	651	c.510C>T	c.(508-510)ttC>ttT	p.F170F	SPATA20_uc002irc.3_5'UTR|SPATA20_uc002ire.3_Silent_p.F110F|SPATA20_uc002irf.3_Silent_p.F154F|SPATA20_uc010wmv.1_Silent_p.F154F|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	154					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			ACATGACGTTCGTGCAGGTGA	0.627000														41			12		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24473886	24473886	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:24473886G>A	uc003ned.1	-	5	562	c.451C>T	c.(451-453)Cac>Tac	p.H151Y	GPLD1_uc010jpr.1_Intron|GPLD1_uc010jps.1_Missense_Mutation_p.H151Y|GPLD1_uc003nee.3_Missense_Mutation_p.H151Y	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	151						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TAGGAGCCGTGAAAATCAATC	0.398000														24			7		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38750779	38750779	+	Splice_Site	SNP	G	A	A	rs35125773		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38750779G>A	uc021yzh.1	+	17	2369	c.2260_splice	c.e17-1	p.K754_splice	DNAH8_uc003ooe.2_Splice_Site_p.K537_splice	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TAAAAAAACAGAAAAACTCAG	0.323000														52			17		0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101765751	101765751	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:101765751G>A	uc001pgl.3	-	7	1302	c.706C>T	c.(706-708)Cag>Tag	p.Q236*		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	236	Fibrinogen C-terminal.				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)		GTATTTTTCTGATTTACTATA	0.284000														55			16		0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51224954	51224954	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:51224954G>A	uc001wyi.3	-	17	2985	c.2794C>T	c.(2794-2796)Ctg>Ttg	p.L932L	NIN_uc001wyj.3_Intron|NIN_uc001wym.2_Silent_p.L932L|NIN_uc001wyk.3_Intron|NIN_uc001wyo.3_Silent_p.L932L	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	932					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCAGACAGCAGGCTTTGCTGG	0.517000			T	PDGFRB	MPD									124			49		0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357408	118357408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:118357408G>A	uc001lco.1	+	6	661	c.643G>A	c.(643-645)Gac>Aac	p.D215N	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.D215N|PNLIPRP1_uc009xys.1_Non-coding_Transcript	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	215					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CTCTGATGCTGACTTTGTTGA	0.478000														68			32		0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77715711	77715711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:77715711G>A	uc001xtf.2	+	20	2160	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K	TMEM63C_uc010asq.1_Missense_Mutation_p.E650K	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	650						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CAAACTGAACGAGCAGATCCA	0.532000														75			31		0	0	1	0	0
VSIG10	54621	broad.mit.edu	37	12	118520021	118520021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:118520021G>A	uc001tws.3	-	2	909	c.575C>T	c.(574-576)tCg>tTg	p.S192L		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	192	Ig-like C2-type 2.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GAGGTTTGGCGATATCAGTAA	0.517000														76			20		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189065004	189065004	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:189065004G>A	uc003izm.1	+	3	863	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	TRIML1_uc003izn.1_5'UTR	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	250					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGTGAGAGGAGCCCTGGAAAG	0.478000														193			69		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304663	10304663	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10304663G>A	uc002gmm.2	-	23	3132	c.3037C>T	c.(3037-3039)Ctg>Ttg	p.L1013L	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1013					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTGCCTGCAGGTCATCCAGG	0.458000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					119			86		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89938713	89938713	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89938713G>A	uc003kju.3	+	12	2504	c.2408G>A	c.(2407-2409)gGg>gAg	p.G803E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	803					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CGATCAAGGGGGTCCCTTGTT	0.408000														107			40		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96055276	96055276	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:96055276C>T	uc004ati.1	+	22	5640	c.5640C>T	c.(5638-5640)ttC>ttT	p.F1880F	WNK2_uc011lud.1_Silent_p.F1843F|WNK2_uc004atj.3_Silent_p.F1843F|WNK2_uc004atk.3_Silent_p.F1480F|WNK2_uc004atl.1_Silent_p.F437F	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1880					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCACCGCCTTCCTGCAGAGGC	0.692000														20			8		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70550872	70550872	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:70550872C>T	uc003xyg.2	+	18	2981	c.2420C>T	c.(2419-2421)cCt>cTt	p.P807L	SULF1_uc010lza.1_Missense_Mutation_p.P807L|SULF1_uc003xyd.2_Missense_Mutation_p.P807L|SULF1_uc003xye.2_Missense_Mutation_p.P807L|SULF1_uc003xyf.2_Missense_Mutation_p.P807L|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_Intron|SULF1_uc003xyj.1_5'UTR	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	807					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)			AATACAGATCCTTATCAGGTA	0.348000														107			10		0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107517425	107517425	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:107517425C>T	uc010hpr.3	+	15	2736	c.2409C>T	c.(2407-2409)atC>atT	p.I803I	BBX_uc003dwk.4_Silent_p.I773I|BBX_uc003dwl.4_Missense_Mutation_p.S467F|BBX_uc003dwm.4_Silent_p.I773I|BBX_uc003dwo.4_Missense_Mutation_p.S123F	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	803					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TTAAAAATATCCCATCCATTT	0.403000														79			26		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108682435	108682435	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108682435G>A	uc003dxl.3	-	26	2712	c.2625C>T	c.(2623-2625)gtC>gtT	p.V875V	MORC1_uc011bhn.2_Silent_p.V854V	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	875					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.M874I(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTCATATTGGACCATGTAAG	0.284000														48			9		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62763514	62763514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62763514C>T	uc009yon.3	-	5	993	c.872G>A	c.(871-873)aGg>aAg	p.R291K	SLC22A8_uc001nwn.1_Missense_Mutation_p.R82K|SLC22A8_uc009yom.3_Missense_Mutation_p.R168K|SLC22A8_uc001nwo.3_Missense_Mutation_p.R291K|SLC22A8_uc010rmm.2_Missense_Mutation_p.R200K|SLC22A8_uc001nwp.2_Missense_Mutation_p.R291K	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	291					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CAAGCTGAGCCTTTCTCCCTC	0.587000														127			10		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134968304	134968304	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:134968304C>T	uc003eqt.3	+	14	3192	c.2817C>T	c.(2815-2817)tcC>tcT	p.S939S	EPHB1_uc003equ.3_Silent_p.S500S	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	939	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCTTCACCTCCCTCCAGCTGG	0.552000														78			23		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74975996	74975996	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:74975996G>A	uc001xqa.3	-	21	3735	c.3348C>T	c.(3346-3348)tcC>tcT	p.S1116S		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1116	Cys-rich.|EGF-like 10; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGTCCTTGCAGGAGAAGGAGC	0.642000														100			31		0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1536177	1536177	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1536177G>A	uc010uvf.2	-	2	1185	c.1185C>T	c.(1183-1185)tcC>tcT	p.S395S		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	400	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCAGCACGAGGGACCCTCCGG	0.682000														35			14		0	0	1	0	0
BDKRB1	623	broad.mit.edu	37	14	96730673	96730673	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:96730673C>T	uc021sbj.1	+	0	654	c.654C>T	c.(652-654)atC>atT	p.I218I	BDKRB1_uc001yfh.3_Silent_p.I218I	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	218					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TGGCTGCGATCGTCTTCTTCA	0.582000														48			14		0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37299050	37299050	+	Missense_Mutation	SNP	G	A	A	rs146473381		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:37299050G>A	uc003jku.1	-	31	3831	c.3713C>T	c.(3712-3714)tCg>tTg	p.S1238L	NUP155_uc003jkt.1_Missense_Mutation_p.S1179L|NUP155_uc010iuz.1_Missense_Mutation_p.S1174L	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	1238					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATTCTATCCGAGGAGCTCAA	0.373000														50			5		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38830525	38830525	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38830525C>T	uc003ciq.3	-	2	392	c.392G>A	c.(391-393)tGg>tAg	p.W131*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	131					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TAAACTGAACCACCTGAAAGG	0.383000														28			13		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539234	55539234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55539234C>T	uc003xsd.1	+	3	2940	c.2792C>T	c.(2791-2793)cCt>cTt	p.P931L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	931					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTTTAAAGCCTATAAAATCA	0.323000														45			15		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87615822	87615822	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:87615822C>T	uc001kdl.1	-	6	1178	c.1077G>A	c.(1075-1077)tgG>tgA	p.W359*	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	359						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.W359*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCCCACCATTCCATGGCTTAG	0.552000										Multiple Myeloma(13;0.14)				98			10		0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423832	33423832	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33423832G>A	uc003oeq.3	+	1	1223	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	ZBTB9_uc021ywp.1_Missense_Mutation_p.E319K	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.	319	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						AGGGGACACTGAAGGGAATGG	0.547000														96			15		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31374055	31374056	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31374055_31374056CC>TT	uc002ebt.3	+	11	1407_1408	c.1340_1341CC>TT	c.(1339-1341)gcc>gTT	p.A447V	ITGAX_uc002ebu.1_Missense_Mutation_p.A447V|ITGAX_uc010vfk.1_Missense_Mutation_p.A97V	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	447					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGGATGAAGGCCGAAGTCACGG	0.649000														35			12		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44815231	44815231	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44815231G>A	uc002xrm.2	-	8	2058	c.1659C>T	c.(1657-1659)atC>atT	p.I553I	CDH22_uc010ghk.1_Silent_p.I553I	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	553	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCTCACCTTGGATGTCAAGCA	0.597000														63			21		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385135	41385135	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41385135G>A	uc002yyq.1	-	32	6317	c.5865C>T	c.(5863-5865)tcC>tcT	p.S1955S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1955				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCTCGTGGAGGAGGCGGAGG	0.637000														13			23		0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54418878	54418878	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:54418878C>T	uc001xal.4	-	1	250	c.63G>A	c.(61-63)gcG>gcA	p.A21A	BMP4_uc010aoh.3_Silent_p.A21A|BMP4_uc001xao.4_Silent_p.A21A|BMP4_uc001xan.4_Silent_p.A21A	NM_130851	NP_570912	P12644	BMP4_HUMAN	Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 3, mRNA.	21					BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|SMAD protein signal transduction|activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of MAP kinase activity|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of SMAD protein import into nucleus|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TAGCATGGCTCGCGCCTCCTA	0.567000														64			23		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62547881	62547881	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:62547881G>A	uc001xfu.1	+	3	1520	c.1323G>A	c.(1321-1323)cgG>cgA	p.R441R	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	441	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACGCTGCCCGGAAGATGACCC	0.567000														31			11		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49688113	49688113	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49688113C>T	uc003cxe.4	+	3	1701	c.1587C>T	c.(1585-1587)acC>acT	p.T529T		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	529					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAGAGCCGACCCCCCTGCCGC	0.627000														161			72		0	0	1	0	0
C19orf21	126353	broad.mit.edu	37	19	757826	757826	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:757826G>A	uc002lpo.3	+	1	963	c.880G>A	c.(880-882)Gag>Aag	p.E294K		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	294										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACGCCCATCGAGCGGGAGAT	0.667000														66			9		0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45817280	45817280	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:45817280G>A	uc011bai.2	-	3	679	c.555C>T	c.(553-555)atC>atT	p.I185I	SLC6A20_uc011baj.2_Silent_p.I185I	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	185					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TGCCACGCAGGATGCACAGGT	0.657000														73			31		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842627	123842627	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:123842627C>T	uc001lfv.3	+	3	972	c.612C>T	c.(610-612)ccC>ccT	p.P204P	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.P204P|TACC2_uc010qtv.2_Silent_p.P204P	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	204						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)				CGCCAGTACCCCTCAGAGAGC	0.582000														46			4		0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100708387	100708387	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:100708387C>T	uc001thn.3	+	7	1140	c.1090C>T	c.(1090-1092)Ccc>Tcc	p.P364S	SCYL2_uc009ztw.1_Missense_Mutation_p.P191S|SCYL2_uc001thm.1_Missense_Mutation_p.P364S	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	364					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ACCAAAACTGCCCAAGGTTTG	0.303000														59			9		0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127549481	127549481	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:127549481G>A	uc004bov.3	+	1	431	c.318G>A	c.(316-318)atG>atA	p.M106I	OLFML2A_uc010mwr.1_Missense_Mutation_p.M106I	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	106										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						AGTGGAAGATGGAGAAACTCA	0.587000														46			22		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70991123	70991123	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:70991123G>A	uc003pfg.4	-	7	1005	c.846C>T	c.(844-846)ccC>ccT	p.P282P	COL9A1_uc003pfe.4_5'Flank|COL9A1_uc003pff.4_Silent_p.P39P	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	282	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.G281V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GAACTCCAGGGGGGCCCGGAG	0.592000														17			20		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273996	10273996	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:10273996G>A	uc010uym.2	-	2	583	c.273C>T	c.(271-273)tcC>tcT	p.S91S	GRIN2A_uc002czo.4_Silent_p.S91S|GRIN2A_uc002czr.4_Silent_p.S91S|GRIN2A_uc010buk.3_Silent_p.S91S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	91					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGCGTGCCCCGGACATGAGGT	0.637000														110			27		0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18152803	18152804	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:18152803_18152804CC>TT	uc001bat.3	+	2	1106_1107	c.890_891CC>TT	c.(889-891)gcc>gTT	p.A297V		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	297						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CACGTGATGGCCTGCGGGGGCA	0.649000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			22		0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148792128	148792128	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:148792128G>A	uc003ewq.1	-	3	621	c.403C>T	c.(403-405)Cct>Tct	p.P135S	HLTF_uc003ewr.1_Missense_Mutation_p.P135S|HLTF_uc003ews.1_Missense_Mutation_p.P135S|HLTF_uc010hve.1_Missense_Mutation_p.P135S	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	135					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GCACCAAAAGGAACTACCCTA	0.338000														64			23		0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33944535	33944535	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:33944535G>A	uc003ztq.1	-	13	1486	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	UBAP2_uc011loc.1_Missense_Mutation_p.S367F|UBAP2_uc011lod.1_Missense_Mutation_p.S191F|UBAP2_uc011loe.1_Missense_Mutation_p.S213F|UBAP2_uc011lof.1_Missense_Mutation_p.S383F|UBAP2_uc011log.1_Missense_Mutation_p.S404F|UBAP2_uc003ztr.2_Missense_Mutation_p.S330F|UBAP2_uc003zts.3_Missense_Mutation_p.S91F	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	458										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GGAAGGAAAGGACTCCAAACC	0.512000														38			20		0	0	1	0	0
BASP1	10409	broad.mit.edu	37	5	17275909	17275909	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:17275909C>T	uc003jfx.3	+	1	763	c.584C>T	c.(583-585)tCc>tTc	p.S195F	BASP1_uc021xws.1_Missense_Mutation_p.S195F	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	195					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	p.S194I(1)		endometrium(1)|lung(8)	9						GCGCCTAGTTCCACACCCAAG	0.642000														40			5		0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46946318	46946318	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:46946318G>A	uc010acl.3	-	2	898	c.293C>T	c.(292-294)tCc>tTc	p.S98F	KIAA0226L_uc001vbf.4_Missense_Mutation_p.S31F|KIAA0226L_uc010tfz.2_Intron|KIAA0226L_uc010acn.3_Intron|KIAA0226L_uc010acm.3_5'UTR|KIAA0226L_uc001vbe.4_Missense_Mutation_p.S98F|KIAA0226L_uc001vbh.4_Missense_Mutation_p.S98F|KIAA0226L_uc001vbi.4_Intron|KIAA0226L_uc010aco.1_Missense_Mutation_p.S98F	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	98	Ser-rich.									NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CTCTGCCAGGGAGTCCCCGAG	0.572000														61			31		0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41804342	41804342	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:41804342C>T	uc001zoa.3	-	3	659	c.481G>A	c.(481-483)Ggg>Agg	p.G161R	LTK_uc001zob.3_Missense_Mutation_p.G161R|LTK_uc010ucx.1_Missense_Mutation_p.G161R|LTK_uc010bcg.2_Intron	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	161					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CCCTGCTGCCCCACCAGGATG	0.726000										TSP Lung(18;0.14)				29			10		0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204124271	204124271	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204124271G>A	uc001haq.2	-	9	1138	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	ETNK2_uc001hao.4_5'Flank|ETNK2_uc001han.4_5'Flank|ETNK2_uc010pqs.2_5'Flank|ETNK2_uc010pqt.2_5'Flank	NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	365					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGCGTGGATGGCCAGTGTGCA	0.552000														57			28		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599464	179599464	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179599464C>T	uc021vsy.1	-	47	11680	c.11455G>A	c.(11455-11457)Gat>Aat	p.D3819N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D480N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4746							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)			CTGCAGCTATCACTGCCGACG	0.353000														146			40		0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46328540	46328540	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46328540G>A	uc002pdn.3	-	17	2624	c.2379C>T	c.(2377-2379)ctC>ctT	p.L793L	SYMPK_uc002pdo.1_Silent_p.L793L|SYMPK_uc002pdp.1_Silent_p.L793L	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	793					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGGCCAGGTAGAGGTACAGAC	0.612000														44			12		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827076	96827076	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96827076G>A	uc001kkb.3	-	2	465	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	CYP2C8_uc010qoa.2_Missense_Mutation_p.R54W|CYP2C8_uc010qoc.2_Missense_Mutation_p.R22W|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.R38W|CYP2C8_uc021pwl.1_Missense_Mutation_p.R54W|CYP2C8_uc010qod.1_Missense_Mutation_p.R38W	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	124					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GAGAAACGCCGGATCTCCTTC	0.488000														105			37		0	0	1	0	0
ECSIT	51295	broad.mit.edu	37	19	11624842	11624842	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11624842C>T	uc002msb.3	-	2	425	c.291G>A	c.(289-291)gcG>gcA	p.A97A	ECSIT_uc010dyc.2_Silent_p.A97A|ECSIT_uc010dyd.3_Silent_p.A97A|ECSIT_uc010xma.2_Intron	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	97					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CGCTGTGCTCCGCAAATTTCT	0.622000														58			18		0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724262	38724262	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:38724262C>T	uc001wum.1	-	0	1313	c.966G>A	c.(964-966)agG>agA	p.R322R		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	322						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	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;0.00439)		TCTCGTCGACCCTGATTGGCC	0.607000														119			44		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142446126	142446126	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:142446126C>A	uc003ywi.2	-	26	3520	c.3439G>T	c.(3439-3441)Gac>Tac	p.D1147Y	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	1148							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCCACCAGGTCCCCGAACAGT	0.677000														35			7		0.000157383	0.000157589	1	1	0
TCN1	6947	broad.mit.edu	37	11	59630139	59630139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59630139G>A	uc001noj.2	-	2	414	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	106					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAGCGTTACGACATACTCCC	0.358000														106			33		0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152695833	152695833	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152695833G>A	uc002tya.3	-	13	1431	c.1363C>T	c.(1363-1365)Cta>Tta	p.L455L	CACNB4_uc002txy.3_Silent_p.L421L|CACNB4_uc002txz.3_Silent_p.L437L|CACNB4_uc010fnz.3_Silent_p.L393L	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	455					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	GAGGTCATTAGACTTCGTCTT	0.418000														103			46		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104044065	104044065	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:104044065G>A	uc003hxb.1	-	42	7196	c.7106C>T	c.(7105-7107)cCt>cTt	p.P2369L	CENPE_uc003hxc.1_Missense_Mutation_p.P2248L	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	2369	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTAACATGAGGATTCTTATT	0.343000														130			33		0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118166571	118166571	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:118166571C>T	uc021osq.1	+	0	1081	c.1081C>T	c.(1081-1083)Cct>Tct	p.P361S	FAM46C_uc001ehe.3_Missense_Mutation_p.P361S	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	361										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CCAGCCGGCCCCTTACGTCAG	0.562000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				40			7		0	0	1	0	0
VTCN1	79679	broad.mit.edu	37	1	117699466	117699466	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:117699466C>T	uc001ehb.3	-	2	280	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	VTCN1_uc021osn.1_5'UTR|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_5'UTR|VTCN1_uc009whf.2_Intron	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	59	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		ATGTCAGGTTCAAAAGTGCAG	0.478000														81			22		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48602556	48602556	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48602556G>A	uc003ctz.2	-	115	8607	c.8606C>T	c.(8605-8607)cCt>cTt	p.P2869L	UCN2_uc003cty.1_5'Flank|UCN2_uc021wxo.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2869	Nonhelical region (NC2).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTATCCCAAGGAGCTTCAGG	0.612000														32			5		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31294508	31294509	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:31294508_31294509GG>AA	uc021sia.1	-	26	4759_4760	c.4445_4446CC>TT	c.(4444-4446)tcc>tTT	p.S1482F	TRPM1_uc010azy.3_Missense_Mutation_p.S1350F|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.S1465F|TRPM1_uc001zfm.3_Missense_Mutation_p.S1443F	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1443					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTCTTCCCCGGGAATAGACGAA	0.450000														86			46		0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10279981	10279981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:10279981G>A	uc002wnq.2	+	6	685	c.473G>A	c.(472-474)gGg>gAg	p.G158E	SNAP25_uc002wnr.2_Missense_Mutation_p.G158E|SNAP25_uc002wns.2_Missense_Mutation_p.G95E|SNAP25_uc010gca.2_Missense_Mutation_p.G158E	NM_130811	NP_570824	P60880	SNP25_HUMAN	Homo sapiens synaptosomal-associated protein, 25kDa (SNAP25), transcript variant 2, mRNA.	158	t-SNARE coiled-coil homology 2.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GGCATCATCGGGAACCTCCGT	0.502000														141			38		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1208909	1208909	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1208909C>T	uc003jbw.4	+	1	307	c.251C>T	c.(250-252)cCc>cTc	p.P84L		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	84					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GAGGGCATCCCCCTGCTGTAC	0.667000														106			29		0	0	1	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77317640	77317640	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:77317640C>T	uc002bcf.2	+	3	678	c.228C>T	c.(226-228)tcC>tcT	p.S76S	PSTPIP1_uc010bkt.1_Non-coding_Transcript|PSTPIP1_uc010umo.1_5'UTR|PSTPIP1_uc010bku.1_Silent_p.S67S|PSTPIP1_uc010bkv.1_Non-coding_Transcript|PSTPIP1_uc010bkw.1_Silent_p.S76S	NM_003978	NP_003969	O43586	PPIP1_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1), mRNA.	76	FCH.				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TGAGGGCCTCCTTTGACTCCT	0.617000														98			31		0	0	1	0	0
MTERFD1	51001	broad.mit.edu	37	8	97258141	97258141	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:97258141G>A	uc003yhs.1	-	5	922	c.844C>T	c.(844-846)Cgt>Tgt	p.R282C	MTERFD1_uc003yhr.1_Missense_Mutation_p.R161C|MTERFD1_uc010mbd.1_Missense_Mutation_p.R282C	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA.	282					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					CTTGGGAGACGAACTACCAGA	0.363000														88			25		0	0	1	0	0
FAM76B	143684	broad.mit.edu	37	11	95521709	95521709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:95521709G>A	uc001pfn.2	-	1	418	c.106C>T	c.(106-108)Cct>Tct	p.P36S	CEP57_uc001pfo.2_5'Flank|CEP57_uc009ywn.2_5'Flank|CEP57_uc010ruh.2_5'Flank|CEP57_uc001pfp.2_5'Flank|CEP57_uc001pfq.2_5'Flank|CEP57_uc001pfr.2_5'Flank|FAM76B_uc001pfm.2_Non-coding_Transcript	NM_144664	NP_653265	Q5HYJ3	FA76B_HUMAN	Homo sapiens family with sequence similarity 76, member B (FAM76B), mRNA.	36										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTACAATAGGATGTGCAATC	0.343000														59			9		0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39895244	39895244	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:39895244G>A	uc003opb.3	-	0	212	c.74C>T	c.(73-75)tCc>tTc	p.S25F	MOCS1_uc003opa.3_Missense_Mutation_p.S25F|MOCS1_uc003opd.3_Intron|MOCS1_uc003ope.3_Intron	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	24	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACCGGGCTGGGAAGAGGCACA	0.632000														13			9		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31697609	31697609	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:31697609C>T	uc004dda.1	-	52	7999	c.7755G>A	c.(7753-7755)tgG>tgA	p.W2585*	DMD_uc004dcr.1_Nonsense_Mutation_p.W125*|DMD_uc004dcs.1_Nonsense_Mutation_p.W125*|DMD_uc004dct.1_Nonsense_Mutation_p.W125*|DMD_uc004dcu.1_Nonsense_Mutation_p.W125*|DMD_uc004dcv.1_Nonsense_Mutation_p.W125*|DMD_uc004dcw.2_Nonsense_Mutation_p.W1241*|DMD_uc004dcx.2_Nonsense_Mutation_p.W1244*|DMD_uc004dcz.2_Nonsense_Mutation_p.W2462*|DMD_uc004dcy.1_Nonsense_Mutation_p.W2581*|DMD_uc004ddb.1_Nonsense_Mutation_p.W2577*|JA202363_uc022bun.1_5'Flank	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2585					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)				TAGCTTCCAGCCATTGTGTTG	0.443000														16			20		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200877935	200877935	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:200877935G>A	uc001gvo.3	+	6	949	c.907G>A	c.(907-909)Ggt>Agt	p.G303S	C1orf106_uc010ppm.2_Missense_Mutation_p.G218S	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	303	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AACCCTTGAGGGTCTGCAGCC	0.602000														104			51		0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24544463	24544463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24544463G>A	uc010tnv.2	+	8	1066	c.920G>A	c.(919-921)gGg>gAg	p.G307E	CPNE6_uc001wlm.3_Missense_Mutation_p.G77E|CPNE6_uc001wll.3_Missense_Mutation_p.G252E|CPNE6_uc001wln.3_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	252	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)		ATGCAGGAAGGGACGGCAAAC	0.572000														119			42		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192700901	192700901	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:192700901G>A	uc002utb.3	-	1	1381	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	342						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GAGCGCTGGCGAGGGACGCTT	0.557000														121			42		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476860	20476860	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20476860C>T	uc010bwe.3	+	3	438	c.199C>T	c.(199-201)Cca>Tca	p.P67S	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_5'UTR|ACSM2A_uc002dhf.4_Missense_Mutation_p.P67S|ACSM2A_uc002dhg.4_Missense_Mutation_p.P67S|ACSM2A_uc010vay.2_5'UTR	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	67					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ACTCCCAAGCCCAGCCCTGTG	0.537000														55			18		0	0	1	0	0
ADRA2A	150	broad.mit.edu	37	10	112838960	112838960	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:112838960G>A	uc001kzo.3	+	0	2171	c.1206G>A	c.(1204-1206)tgG>tgA	p.W402*		NM_000681	NP_000672	P08913	ADA2A_HUMAN	Homo sapiens adrenergic, alpha-2A-, receptor (ADRA2A), mRNA.	387					Rho protein signal transduction|actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	TGGTGTGCTGGTTCCCCTTCT	0.632000														75			27		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126705672	126705672	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:126705672G>A	uc003kuh.4	+	5	752	c.390G>A	c.(388-390)tgG>tgA	p.W130*	MEGF10_uc010jdc.1_Nonsense_Mutation_p.W130*|MEGF10_uc010jdd.1_Nonsense_Mutation_p.W130*|MEGF10_uc003kui.4_Nonsense_Mutation_p.W130*	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	130	EGF-like 1.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGCCTGGCTGGGGAGGGACCA	0.507000														61			9		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30507767	30507767	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30507767G>A	uc002dyi.4	+	14	1888	c.1712G>A	c.(1711-1713)gGg>gAg	p.G571E	ITGAL_uc002dyj.4_Missense_Mutation_p.G488E|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	571					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	p.E570*(1)|p.E570K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CGGATAGAAGGGACCCAAGTG	0.577000														129			13		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52554257	52554257	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52554257G>A	uc003dej.3	+	51	5524	c.5450G>A	c.(5449-5451)cGa>cAa	p.R1817Q	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1817	FAS1 6.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGCCCACTTCGAACCATGCAT	0.622000														154			11		0	0	1	0	0
CD69	969	broad.mit.edu	37	12	9907256	9907256	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:9907256C>T	uc001qwk.3	-	3	499	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	CD69_uc010sgu.2_Missense_Mutation_p.E140K|CD69_uc010sgv.1_3'UTR	NM_001781	NP_001772	Q07108	CD69_HUMAN	Homo sapiens CD69 molecule (CD69), transcript variant 1, mRNA.	140	C-type lectin.					integral to plasma membrane	sugar binding|transmembrane receptor activity			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						ACCCAGTGTTCCTCTCTACCT	0.393000														186			83		0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840353	128840353	+	Silent	SNP	G	A	A	rs150340160		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:128840353G>A	uc009zcp.3	-	21	4713	c.4713C>T	c.(4711-4713)ccC>ccT	p.P1571P	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Silent_p.P530P|ARHGAP32_uc001qez.3_Silent_p.P1222P	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1571	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GAATGTCTTCGGGGTAACAGG	0.547000														45			18		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660591	77660591	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77660591C>T	uc011cbx.2	+	4	2218	c.1265C>T	c.(1264-1266)tCc>tTc	p.S422F	SHROOM3_uc011cbz.1_Missense_Mutation_p.S246F|SHROOM3_uc003hkf.1_Missense_Mutation_p.S297F|SHROOM3_uc003hkg.3_Missense_Mutation_p.S200F	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	422					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCTTTAGGCTCCCTGAAGTCT	0.552000														56			25		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852889	40852889	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:40852889C>T	uc003jmg.3	+	2	1530	c.1455C>T	c.(1453-1455)atC>atT	p.I485I		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	485					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TACACAAAATCTTTCTTCATC	0.443000														72			18		0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56235010	56235011	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56235010_56235011CC>TT	uc001sib.3	-	2	304_305	c.183_184GG>AA	c.(181-186)caggaa>caAAaa	p.E62K	MMP19_uc001sia.3_5'Flank|MMP19_uc001sid.3_Intron|MMP19_uc010spw.2_Missense_Mutation_p.E62K	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	62					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TCAGATGCTTCCTGAAAAGCTC	0.530000														55			22		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233749941	233749941	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233749941C>T	uc010pxo.1	+	0	192	c.24C>T	c.(22-24)agC>agT	p.S8S		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	8						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TGGCCGGCAGCTCGTGCGTGC	0.721000														20			7		0	0	1	0	0
ZNF367	195828	broad.mit.edu	37	9	99160471	99160471	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:99160471G>A	uc004awf.3	-	1	901	c.546C>T	c.(544-546)ctC>ctT	p.L182L	ZNF367_uc004awg.3_Silent_p.L182L	NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN	Homo sapiens zinc finger protein 367 (ZNF367), mRNA.	182					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S181*(1)		cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				TGTGAGCCTGGAGCGATTTCT	0.358000														206			59		0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123504887	123504887	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123504887C>T	uc001pza.1	-	5	1019	c.612G>A	c.(610-612)gaG>gaA	p.E204E	SCN3B_uc001pzb.1_Silent_p.E204E	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	204					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TCTCCTTGTTCTCAGATGGGA	0.537000														42			18		0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664387	5664387	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5664387G>A	uc001mbh.3	+	7	1072	c.915G>A	c.(913-915)ctG>ctA	p.L305L	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Silent_p.L659L|TRIM6-TRIM34_uc001mbi.3_Silent_p.L305L|TRIM6-TRIM34_uc009yer.3_5'Flank	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	659						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		ATGTCACACTGAATTCAGTCA	0.318000														14			6		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142564239	142564239	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142564239C>T	uc011kst.2	+	9	2250	c.1463C>T	c.(1462-1464)cCc>cTc	p.P488L	EPHB6_uc011ksu.2_Missense_Mutation_p.P488L|EPHB6_uc003wbs.3_Missense_Mutation_p.P196L|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Missense_Mutation_p.P196L|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	488	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACTCTAGTGCCCTCTGCTGTC	0.597000														43			17		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286638	152286638	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152286638C>T	uc001ezu.1	-	2	760	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	242					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATAGGCTTCATCCTGGATT	0.353000									Ichthyosis					123			46		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555305	155555305	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:155555305G>A	uc002tyv.1	+	0	213	c.18G>A	c.(16-18)agG>agA	p.R6R	KCNJ3_uc010zce.1_Silent_p.R6R|KCNJ3_uc021vrh.1_Silent_p.R6R	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	6					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.R5L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CACTCCGAAGGAAATTTGGGG	0.597000														74			11		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128480613	128480613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128480613G>A	uc003vnz.4	+	9	1770	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	FLNC_uc003voa.4_Missense_Mutation_p.E521K	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	521					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGGCACAGAGGAGCCAGTGAA	0.602000														58			28		0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	118819608	118819608	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:118819608G>A	uc003yok.1	-	8	2504	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F		NM_000127	NP_000118	Q16394	EXT1_HUMAN	Homo sapiens exostosin 1 (EXT1), mRNA.	577					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CTGTGAAGGCGAAATCCACCT	0.483000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses					48			15		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38764987	38764987	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38764987C>T	uc003ciq.3	-	17	3286	c.3286G>A	c.(3286-3288)Gaa>Aaa	p.E1096K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1096					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ctcaggatttcctcaggatct	0.592000														31			11		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31895859	31895859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31895859C>T	uc011doq.2	+	1	438	c.59C>T	c.(58-60)cCc>cTc	p.P20L	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Silent_p.S58S|CFB_uc003nyf.3_Silent_p.S58S|CFB_uc010jtk.3_Intron|CFB_uc011dor.2_Silent_p.S58S	NM_001178063	NP_001171534	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 3, mRNA.	0					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGTACCCATCCCCAGCATCAC	0.637000														36			8		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882455	144882455	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:144882455A>G	uc021ouh.1	-	23	3866	c.3564T>C	c.(3562-3564)gaT>gaC	p.D1188D	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_Silent_p.D1188D|PDE4DIP_uc001elx.4_Intron|PDE4DIP_uc001elv.4_Silent_p.D195D	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1188					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)		CTTGGTGGGCATCCACTGTGA	0.502000			T	PDGFRB	MPD									71			13		0	0	1	0	0
PSEN2	5664	broad.mit.edu	37	1	227071564	227071564	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:227071564C>T	uc009xeo.1	+	4	727	c.300C>T	c.(298-300)atC>atT	p.I100I	PSEN2_uc009xep.1_Silent_p.I100I|PSEN2_uc001hqk.2_Non-coding_Transcript	NM_000447	NP_000438	P49810	PSN2_HUMAN	Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA.	100					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity	Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm	aspartic-type endopeptidase activity|protein binding	p.I100I(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				TGTGCATGATCGTGGTGGTAG	0.607000														83			28		0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1499956	1499956	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:1499956A>T	uc004cps.3	+	10	1370	c.1021A>T	c.(1021-1023)Atg>Ttg	p.M341L	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Missense_Mutation_p.M263L	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	341						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CATCCCTCACATGAAAGACCC	0.547000														207			95		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85696067	85696067	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:85696067G>A	uc003hpd.3	-	28	5068	c.4660C>T	c.(4660-4662)Cga>Tga	p.R1554*		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1554						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.R1554Q(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GACATATCTCGAAGAGTCAGG	0.398000														99			47		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536809	146536809	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:146536809G>A	uc003weu.2	+	2	731	c.215G>A	c.(214-216)gGg>gAg	p.G72E		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	72	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAGGTGCTGGGGGATGGTCT	0.423000										HNSCC(39;0.1)				50			11		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31810494	31810494	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:31810494G>A	uc001ivs.4	+	6	2294	c.2231G>A	c.(2230-2232)gGa>gAa	p.G744E	ZEB1_uc001ivr.4_Missense_Mutation_p.G526E|ZEB1_uc010qef.2_Missense_Mutation_p.G526E|ZEB1_uc009xlj.1_Missense_Mutation_p.G670E|ZEB1_uc010qeg.1_Missense_Mutation_p.G603E|ZEB1_uc009xlk.1_Missense_Mutation_p.G526E|ZEB1_uc001ivu.4_Missense_Mutation_p.G745E|ZEB1_uc010qeh.2_Missense_Mutation_p.G677E|ZEB1_uc001ivv.4_Missense_Mutation_p.G724E|ZEB1_uc001ivt.4_Missense_Mutation_p.G526E|ZEB1_uc009xlo.2_Missense_Mutation_p.G727E|ZEB1_uc009xlp.3_Missense_Mutation_p.G728E	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	744					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAGCAACAGGGAGAATTATTA	0.428000														93			22		0	0	1	0	0
EXOC6	54536	broad.mit.edu	37	10	94653169	94653169	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:94653169C>T	uc010qnr.2	+	2	356	c.213C>T	c.(211-213)atC>atT	p.I71I	EXOC6_uc001kie.3_Silent_p.I50I|EXOC6_uc001kif.4_Silent_p.I55I|EXOC6_uc001kig.3_Silent_p.I55I|EXOC6_uc009xub.3_Silent_p.I55I|EXOC6_uc009xuc.3_Silent_p.I55I	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	55					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				ATGCTTGTATCCGTAATCATG	0.338000														92			41		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052800	15052800	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15052800C>T	uc010xoc.2	+	0	500	c.500C>T	c.(499-501)tCc>tTc	p.S167F		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TTGAGGCTGTCCTTCTGCACA	0.488000														182			96		0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45277287	45277287	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:45277287G>A	uc001myq.2	-	1	465	c.339C>T	c.(337-339)agC>agT	p.S113S	SYT13_uc009yku.1_5'UTR	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	113						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GGGGTTGGGGGCTGGCAGGTG	0.587000														29			9		0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102027848	102027848	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:102027848C>T	uc021sdx.1	+	0	161	c.15C>T	c.(13-15)gcC>gcT	p.A5A	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	0					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CTCGCCAGGCCACGTCGCGGT	0.667000														11			9		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169589405	169589405	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169589405G>A	uc011cjx.2	+	2	1184	c.973G>A	c.(973-975)Gac>Aac	p.D325N	PALLD_uc003iru.3_Missense_Mutation_p.D325N|PALLD_uc003irv.3_5'UTR	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	325	Ig-like C2-type 1.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGAGGGAGGGGACCTCCATAC	0.517000									Pancreatic Cancer, Familial Clustering of					99			33		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21263862	21263862	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21263862C>T	uc002red.3	-	3	459	c.331G>A	c.(331-333)Gcc>Acc	p.A111T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	111	Heparin-binding.|Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCAGCAAGGCTTTGCCCTCA	0.527000														48			11		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16035627	16035627	+	Silent	SNP	G	A	A	rs149071621	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16035627G>A	uc002nbu.2	-	5	627	c.591C>T	c.(589-591)ctC>ctT	p.L197L	CYP4F11_uc010eab.1_Silent_p.L197L|CYP4F11_uc002nbt.2_Silent_p.L197L	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	197					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CCAAGGTCATGAGGCTGATGT	0.527000														75			41		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15579516	15579516	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15579516C>T	uc002nbf.4	-	4	1822	c.1689G>A	c.(1687-1689)agG>agA	p.R563R		NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	563					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGGGTGGCTCCCTCCTGGATC	0.517000														65			19		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26157080	26157080	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26157080C>T	uc003abz.1	+	1	271	c.21C>T	c.(19-21)ctC>ctT	p.L7L	MYO18B_uc003aca.1_5'Flank|MYO18B_uc010guy.1_5'Flank|MYO18B_uc010guz.1_5'Flank|MYO18B_uc011aka.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	7						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						CATCACGCCTCGCCCTGTGGG	0.592000														99			25		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098263	144098263	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:144098263C>T	uc022aoj.1	-	3	720	c.720G>A	c.(718-720)ggG>ggA	p.G240G		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	240					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGTGGCAGGGCCCCCGGCCTG	0.597000														17			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348302	140348302	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140348302G>A	uc003lii.3	+	0	2556	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.E651K	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	651	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)			GATGGGAGATGAGAGTGGTAG	0.498000														49			21		0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678484	87678484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:87678484G>A	uc002fkd.3	+	1	1257	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	335					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CACCAAGGAGGAGGGCAAGTA	0.662000														52			15		0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121353122	121353122	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121353122G>A	uc003eeh.4	-	9	960	c.835C>T	c.(835-837)Cca>Tca	p.P279S	HCLS1_uc011bjj.2_Missense_Mutation_p.P242S|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	279					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		ACTGGCTGTGGAGCCTCAGGG	0.597000														64			23		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47532341	47532341	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:47532341C>T	uc002zia.1	+	2	646	c.564C>T	c.(562-564)ttC>ttT	p.F188F	COL6A2_uc002zhz.1_Silent_p.F188F|COL6A2_uc002zhy.1_Silent_p.F188F	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	188	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCCGGCTCTTCGCCGTGGCCC	0.706000														20			5		0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	97002296	97002296	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:97002296C>T	uc001yfq.3	+	10	1207	c.990C>T	c.(988-990)tcC>tcT	p.S330S	PAPOLA_uc001yfr.3_Silent_p.S330S|PAPOLA_uc010twv.2_Silent_p.S330S|PAPOLA_uc010avp.3_Silent_p.S80S	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	330					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACAATGTGTCCGTTTCAACAC	0.413000														74			37		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179633587	179633587	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179633587C>T	uc021vsy.1	-	37	9201	c.8976G>A	c.(8974-8976)gtG>gtA	p.V2992V	TTN_uc021vsz.1_Silent_p.V2946V|TTN_uc021vta.1_Silent_p.V2946V|TTN_uc021vtb.1_Silent_p.V2946V|TTN_uc002unb.2_Silent_p.V2992V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2992	Ig-like 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D2991G(1)		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)			CTTCATAGTTCACTGTCACCT	0.388000														54			14		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65263415	65263415	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:65263415C>T	uc001xht.3	-	9	1252	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	SPTB_uc001xhr.3_Missense_Mutation_p.E401K|SPTB_uc001xhs.3_Missense_Mutation_p.E401K|SPTB_uc001xhu.3_Missense_Mutation_p.E401K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	401					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TACTCAGCTTCCTCCAGGCTT	0.577000														47			12		0	0	1	0	0
IFI27	3429	broad.mit.edu	37	14	94578120	94578120	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94578120G>A	uc021sba.1	+	2	214	c.91_splice	c.e2+1	p.A31_splice	IFI27_uc001ycm.1_Splice_Site|IFI27_uc001ycn.1_Intron	NM_001130080	NP_001123552	P40305	IFI27_HUMAN	Homo sapiens interferon, alpha-inducible protein 27 (IFI27), transcript variant 1, mRNA.	31					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		TTGCCCCTGGGTGAGTGTTCC	0.667000														48			14		0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95549901	95549901	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95549901C>T	uc001kjc.4	+	4	813	c.477C>T	c.(475-477)ttC>ttT	p.F159F	LGI1_uc021pwk.1_Silent_p.F159F|LGI1_uc010qnv.2_Silent_p.F111F|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	159					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AAGATATTTTCAAAGGCCTGG	0.333000														64			24		0	0	1	0	0
ISPD	729920	broad.mit.edu	37	7	16298032	16298032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:16298032G>A	uc010ktx.2	-	7	1102	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	ISPD_uc010kty.2_Missense_Mutation_p.P318S|LOC100506025_uc003stf.3_Intron|LOC100506025_uc022aae.1_Intron	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN	Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 1, mRNA.	368					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						ACAACAACAGGATATAAAATG	0.318000										Multiple Myeloma(15;0.18)				21			6		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138651571	138651571	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:138651571C>T	uc011mdq.2	+	10	975	c.901C>T	c.(901-903)Ctc>Ttc	p.L301F	KCNT1_uc011mdr.2_Missense_Mutation_p.L128F|KCNT1_uc010nbf.3_Missense_Mutation_p.L256F|KCNT1_uc004cgo.1_Missense_Mutation_p.L50F	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	301						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GAACCTGTCCCTCCTGACCTC	0.667000														41			11		0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38091684	38091684	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:38091684A>T	uc003gtb.3	+	12	2540	c.2182A>T	c.(2182-2184)Att>Ttt	p.I728F	TBC1D1_uc011byd.2_Missense_Mutation_p.I822F|TBC1D1_uc010ifd.3_Missense_Mutation_p.I515F|TBC1D1_uc011byf.1_Missense_Mutation_p.I599F	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	728						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GCAAAAGGCTATTCTTCAACA	0.473000														135			11		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168678436	168678436	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:168678436C>T	uc010jjg.3	-	1	645	c.225G>A	c.(223-225)agG>agA	p.R75R	SLIT3_uc003mab.3_Silent_p.R75R|SLIT3_uc010jji.2_Silent_p.R75R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	75					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTGGTGATCCTGGTGATAT	0.433000														77			40		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46832474	46832474	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46832474C>T	uc002peh.3	+	11	1482	c.1451C>T	c.(1450-1452)gCt>gTt	p.A484V	HIF3A_uc002peg.4_Missense_Mutation_p.A484V|HIF3A_uc021uwf.1_Missense_Mutation_p.A428V|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Missense_Mutation_p.A415V|HIF3A_uc002pel.3_Missense_Mutation_p.A482V|HIF3A_uc010xxz.2_Missense_Mutation_p.A433V	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	484	NTAD.|ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GATGCTGATGCTCTGGATTTG	0.582000														76			32		0	0	1	0	0
AGR2	10551	broad.mit.edu	37	7	16839434	16839434	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:16839434C>T	uc003str.3	-	4	451	c.264G>A	c.(262-264)aaG>aaA	p.K88K		NM_006408	NP_006399	O95994	AGR2_HUMAN	Homo sapiens anterior gradient 2 homolog (Xenopus laevis) (AGR2), mRNA.	88					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		CAAACACTTTCTTTAAAGCTA	0.289000														47			5		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3889576	3889577	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:3889576_3889577CC>TT	uc022aqr.1	-	3	850_851	c.460_461GG>AA	c.(460-462)gga>AAa	p.G154K		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	154	Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGCAGAACTCCTTTCAGGATT	0.450000														45			16		0	0	1	0	0
HMG20B	10362	broad.mit.edu	37	19	3578095	3578095	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3578095C>T	uc002lya.3	+	8	993	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	HMG20B_uc002lyb.3_Silent_p.L207L	NM_006339	NP_006330	Q9P0W2	HM20B_HUMAN	Homo sapiens high mobility group 20B (HMG20B), mRNA.	309					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGAAATCCTGGCCCAGGT	0.706000														23			6		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403772	47403772	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47403772C>T	uc001cqp.4	-	1	284	c.233G>A	c.(232-234)tGg>tAg	p.W78*	CYP4A11_uc001cqq.2_Nonsense_Mutation_p.W78*|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	78					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TGTCTCCACCCATTTCTGAAT	0.483000														94			32		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55175726	55175726	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55175726G>A	uc010ooe.1	+	23	4162	c.3838G>A	c.(3838-3840)Ggg>Agg	p.G1280R	HEATR8_uc001cxq.3_Intron|HEATR8_uc010ood.1_Missense_Mutation_p.G798R|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.G481R	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1280						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						GCTGCCGCACGGGAACTCATG	0.617000														50			9		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229772656	229772656	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:229772656C>T	uc001hts.1	+	3	2432	c.2296C>T	c.(2296-2298)Ctg>Ttg	p.L766L	URB2_uc009xfd.1_Silent_p.L766L	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	766						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGCCAGTGTCCTGCTGAGAAC	0.448000														66			29		0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33956124	33956124	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:33956124G>A	uc003ztq.1	-	10	932	c.819C>T	c.(817-819)ttC>ttT	p.F273F	UBAP2_uc011loc.1_Silent_p.F182F|UBAP2_uc011lod.1_Intron|UBAP2_uc011loe.1_Silent_p.F28F|UBAP2_uc011lof.1_Silent_p.F198F|UBAP2_uc011log.1_Silent_p.F219F|UBAP2_uc003ztr.2_Silent_p.F145F	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	273										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATGAGGCAGTGAAGACCTTTG	0.348000														84			15		0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6022130	6022130	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:6022130C>T	uc002wmo.2	-	4	1985	c.1761G>A	c.(1759-1761)ggG>ggA	p.G587G		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	587	Fibronectin type-III.					integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TCTCCGTCACCCCCTGCAGCC	0.711000														60			28		0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24810379	24810379	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24810379C>T	uc003xee.3	-	4	1678	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	526	Tail, subdomain B (acidic).|Tail.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ttcttctcctcctcttcagct	0.413000														65			22		0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104472813	104472813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:104472813C>T	uc001yom.4	+	15	1831	c.1801C>T	c.(1801-1803)Ctt>Ttt	p.L601F	TDRD9_uc001yon.4_Missense_Mutation_p.L339F	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	601					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TTTAGCCCAACTTCCTGTAAA	0.378000														64			28		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559839	44559839	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:44559839C>T	uc002lcr.1	-	0	2150	c.1797G>A	c.(1795-1797)caG>caA	p.Q599Q	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	599	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.Q599E(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTTGTTTTCCTGTGGCTTTT	0.493000														106			45		0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628811	84628811	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:84628811C>T	uc003uic.3	-	16	2319	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	SEMA3D_uc010led.3_Missense_Mutation_p.R760Q|SEMA3D_uc003uib.3_Missense_Mutation_p.R399Q	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	760	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.R760Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTCGATTTCGTTTCTTCTT	0.453000														78			32		0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3806148	3806148	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:3806148C>T	uc010sen.1	-	3	590	c.18G>A	c.(16-18)ggG>ggA	p.G6G	EFCAB4B_uc001qmj.2_Silent_p.G6G	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	6					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	p.G6W(1)		breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			AGACTACCCTCCCGTCAGGGG	0.572000														16			10		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277031	152277031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152277031C>T	uc001ezu.1	-	2	10367	c.10331G>A	c.(10330-10332)gGa>gAa	p.G3444E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3444	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCTGCCTTCCTCTTCTGCT	0.602000									Ichthyosis					415			162		0	0	1	0	0
B4GALT2	8704	broad.mit.edu	37	1	44447081	44447081	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44447081C>T	uc010okl.2	+	1	412	c.336C>T	c.(334-336)ccC>ccT	p.P112P	B4GALT2_uc001clg.3_Silent_p.P83P|B4GALT2_uc001clh.3_Missense_Mutation_p.P32L|B4GALT2_uc001cli.3_Silent_p.P83P	NM_030587	NP_085076	O60909	B4GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	83					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CTGAGGTCCCCAGTGCCCTGC	0.697000														34			12		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231233	21231233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21231233C>T	uc002red.3	-	25	8635	c.8507G>A	c.(8506-8508)aGa>aAa	p.R2836K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2836					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGCTCCGTTCTCAGGTACTT	0.408000														163			54		0	0	1	0	0
SEPN1	57190	broad.mit.edu	37	1	26138213	26138213	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26138213C>T	uc021ojk.1	+	8	1179	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	SEPN1_uc021ojl.1_Missense_Mutation_p.P341L	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	Homo sapiens selenoprotein N, 1 (SEPN1), transcript variant 1, mRNA.	375						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTCTGTGCCCTCCGTGATC	0.617000														7			4		0	0	1	0	0
HRASLS2	54979	broad.mit.edu	37	11	63325900	63325900	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63325900C>T	uc001nxg.1	-	2	410	c.351G>A	c.(349-351)gtG>gtA	p.V117V		NM_017878	NP_060348	Q9NWW9	HRSL2_HUMAN	Homo sapiens HRAS-like suppressor 2 (HRASLS2), mRNA.	117					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						GCAGATGGTTCACGAAGTGCT	0.597000														61			23		0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15874796	15874796	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:15874796C>T	uc001aws.3	+	6	1016	c.896C>T	c.(895-897)tCa>tTa	p.S299L	DNAJC16_uc001awr.1_Missense_Mutation_p.S299L|DNAJC16_uc001awt.3_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	299					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATTATTTATCATTTGGATAT	0.383000														48			17		0	0	1	0	0
CHMP2B	25978	broad.mit.edu	37	3	87302653	87302653	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:87302653C>T	uc003dqp.4	+	4	784	c.524C>T	c.(523-525)tCt>tTt	p.S175F	CHMP2B_uc011bgn.2_Missense_Mutation_p.S134F	NM_014043	NP_054762	Q9UQN3	CHM2B_HUMAN	Homo sapiens charged multivesicular body protein 2B (CHMP2B), transcript variant 1, mRNA.	175					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		ATTGAAATTTCTGGAAAGGTA	0.353000														53			6		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8590392	8590392	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8590392G>A	uc002mkg.3	-	24	2963	c.2825C>T	c.(2824-2826)cCt>cTt	p.P942L		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	942						unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGCCCGGGTAGGGGCTTGGGA	0.607000														43			29		0	0	1	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1147102	1147102	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1147102C>T	uc001adf.3	-	4	1355	c.757G>A	c.(757-759)Gat>Aat	p.D253N	TNFRSF4_uc001ade.3_Missense_Mutation_p.D249N			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.	249					T cell proliferation|immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TTGTGGGCATCGGGGGGCAGC	0.706000														8			8		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128140	83128140	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:83128140C>T	uc004eei.1	+	3	445	c.424C>T	c.(424-426)Cca>Tca	p.P142S	CYLC1_uc004eeh.1_Missense_Mutation_p.P141S	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	142					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGCAACAAATCCAGAATCCAA	0.328000														9			9		0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109155434	109155434	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:109155434G>A	uc003kou.1	+	13	3137	c.2174G>A	c.(2173-2175)aGt>aAt	p.S725N		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	725					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GAATCAGCAAGTTCAAATTCA	0.308000														131			25		0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17614116	17614117	+	Silent	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:17614116_17614117GG>AA	uc002wpw.1	-	7	1576_1577	c.1299_1300CC>TT	c.(1297-1302)gtcctg>gtTTtg	p.433_434VL>VL	RRBP1_uc002wpu.3_Silent_p.207_208VL>VL|RRBP1_uc010gcl.1_Silent_p.207_208VL>VL|RRBP1_uc002wpv.1_Silent_p.433_434VL>VL|RRBP1_uc010gcm.1_Missense_Mutation_p.S19F	NM_004587	NP_004578	Q9P2E9	RRBP1_HUMAN	Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.	866	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TGCAGCTGCAGGACCTGCTTCT	0.639000														70			8		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189706760	189706760	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:189706760G>A	uc011bsk.2	-	3	1279	c.891C>T	c.(889-891)cgC>cgT	p.R297R	LEPREL1_uc003fsg.3_Silent_p.R116R	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	297					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGGAGAGAGGCGGCCAGGGC	0.507000														96			18		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760970	62760970	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62760970C>T	uc009yon.3	-	9	1576	c.1455G>A	c.(1453-1455)ggG>ggA	p.G485G	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc009yom.3_Silent_p.G362G|SLC22A8_uc001nwo.3_Silent_p.G485G|SLC22A8_uc010rmm.2_Silent_p.G394G|SLC22A8_uc001nwp.2_Silent_p.G485G	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	485					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CAGCACTGCCCCCGAGGAGGG	0.597000														120			15		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103057133	103057133	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:103057133C>T	uc001phn.1	+	41	6940	c.6796C>T	c.(6796-6798)Cct>Tct	p.P2266S	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.P2266S	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2266	AAA 3 (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)		CATTCAGACTCCTGACATGCA	0.428000														40			32		0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78223041	78223041	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:78223041G>A	uc002jyb.2	+	15	1917	c.1611G>A	c.(1609-1611)caG>caA	p.Q537Q	SLC26A11_uc002jyc.2_Silent_p.Q537Q|SLC26A11_uc002jyd.2_Silent_p.Q537Q|SLC26A11_uc010dhv.2_Silent_p.Q537Q	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	537	STAS.					Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGCTCCTCCAGGACTTCCAGA	0.652000														32			10		0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43858077	43858077	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43858077G>A	uc002owi.3	+	1	167	c.125G>A	c.(124-126)tGg>tAg	p.W42*	CD177_uc021uvf.1_Nonsense_Mutation_p.W42*|CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	42					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CCCCGGCAATGGACCCCTAAG	0.612000														64			33		0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40774551	40774551	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:40774551A>T	uc004abs.2	-	4	876	c.724T>A	c.(724-726)Tcc>Acc	p.S242T	ZNF658_uc010mmm.2_Missense_Mutation_p.S242T|ZNF658_uc010mmn.1_Missense_Mutation_p.S242T	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCCTTACAGGACTTTTCTCCT	0.328000														90			24		0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234368445	234368445	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234368445C>T	uc002vui.1	+	22	2749	c.2737C>T	c.(2737-2739)Cct>Tct	p.P913S	DGKD_uc002vuj.1_Missense_Mutation_p.P869S|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	913					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGAGGGCGTGCCTGTGCAGGT	0.572000														33			19		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6832117	6832117	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6832117C>T	uc002mfu.1	+	14	1511	c.1414C>T	c.(1414-1416)Ctc>Ttc	p.L472F	VAV1_uc010xjh.1_Missense_Mutation_p.L440F|VAV1_uc010dva.1_Missense_Mutation_p.L472F|VAV1_uc002mfv.1_Missense_Mutation_p.L417F	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	472	PH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCACATGTTCCTCCTGATCGA	0.567000														36			16		0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4648002	4648002	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:4648002G>A	uc002fyu.2	+	9	1796	c.1766G>A	c.(1765-1767)aGg>aAg	p.R589K	ZMYND15_uc002fyv.2_Missense_Mutation_p.R589K|ZMYND15_uc002fyt.2_Missense_Mutation_p.R550K	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	550							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GGGGGCCGCAGGGACCTGCAG	0.617000														40			29		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206628459	206628459	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:206628459C>T	uc002vaw.3	+	12	2897	c.2106C>T	c.(2104-2106)ctC>ctT	p.L702L	NRP2_uc002vau.3_Silent_p.L702L|NRP2_uc002vav.3_Silent_p.L702L|NRP2_uc002vax.3_Silent_p.L702L|NRP2_uc002vay.3_Silent_p.L702L	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	702	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ATGCCCGGCTCATCAGCCCCC	0.622000											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		111			39		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52514231	52514231	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52514231C>T	uc003ded.4	+	12	1582	c.1448C>T	c.(1447-1449)cCc>cTc	p.P483L	NISCH_uc003dec.1_Missense_Mutation_p.P483L	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	483	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TCAGCTGCCCCCTGCATCAGA	0.617000														82			25		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16230351	16230351	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:16230351C>T	uc010bvi.3	+	28	4317	c.4142C>T	c.(4141-4143)tCg>tTg	p.S1381L	ABCC1_uc010bvj.3_Missense_Mutation_p.S1322L|ABCC1_uc010bvk.3_Missense_Mutation_p.S1325L|ABCC1_uc010bvl.3_Missense_Mutation_p.S1381L|ABCC1_uc010bvm.3_Missense_Mutation_p.S1266L|ABCC1_uc002del.4_Missense_Mutation_p.S1275L	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1381	ABC transporter 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTTTTGTTTTCGGGTTCCCTC	0.562000														43			9		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43376039	43376039	+	Missense_Mutation	SNP	C	T	T	rs1058692		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43376039C>T	uc002ovd.1	-	2	727	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.E197K|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Missense_Mutation_p.E197K|PSG3_uc002ovb.3_Missense_Mutation_p.E197K	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	197	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.S196S(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CTGTTGGTTTCGGACAGCTTC	0.527000														579			34		0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956099	42956100	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42956099_42956100CC>TT	uc003cmk.2	+	3	798_799	c.612_613CC>TT	c.(610-615)ctcctt>ctTTtt	p.L205F	ZNF662_uc003cmi.2_Missense_Mutation_p.L179F|ZNF662_uc003cmj.2_Missense_Mutation_p.L71F	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TCAATAACCTCCTTGGTATACA	0.351000														71			29		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46267784	46267784	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:46267784C>T	uc002xtk.3	+	13	2806	c.2545C>T	c.(2545-2547)Cgt>Tgt	p.R849C	NCOA3_uc002xtl.3_Missense_Mutation_p.R849C|NCOA3_uc002xtn.3_Missense_Mutation_p.R849C|NCOA3_uc010ght.2_Missense_Mutation_p.R859C|NCOA3_uc002xtm.3_Missense_Mutation_p.R849C|NCOA3_uc010zyc.2_Missense_Mutation_p.R644C	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	849					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCAGTCTATTCGTCCTCCATA	0.373000														103			53		0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43803534	43803534	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:43803534C>T	uc001ciw.3	+	0	60	c.15C>T	c.(13-15)gcC>gcT	p.A5A	MPL_uc001civ.3_Silent_p.A5A|MPL_uc009vwr.3_Silent_p.A5A	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	5					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTCCTGGGCCCTCTTCATGG	0.632000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia							18			7		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19492695	19492695	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19492695C>T	uc002dgc.4	+	14	3020	c.2271C>T	c.(2269-2271)atC>atT	p.I757I	TMC5_uc010vaq.2_Silent_p.I705I|TMC5_uc002dgb.4_Silent_p.I757I|TMC5_uc010var.2_Silent_p.I757I|TMC5_uc002dgd.1_Silent_p.I511I|TMC5_uc002dge.4_Silent_p.I511I|TMC5_uc002dgf.4_Silent_p.I440I|TMC5_uc002dgg.4_Silent_p.I398I	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	757						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						TTCACAGAATCATTGGGATGC	0.443000														89			12		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57103257	57103257	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:57103257G>A	uc002lib.3	-	10	1174	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	CCBE1_uc010dpq.3_Silent_p.F97F|CCBE1_uc002lia.3_Silent_p.F221F	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	368					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	p.E367*(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GAGGTAAAGGGAACTCCTCTG	0.532000														163			55		0	0	1	0	0
CPOX	1371	broad.mit.edu	37	3	98299547	98299547	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:98299547G>A	uc003dsx.3	-	6	1452	c.1345C>T	c.(1345-1347)Cca>Tca	p.P449S		NM_000097	NP_000088	P36551	HEM6_HUMAN	Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA.	449						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CAGTCCCTTGGATGGCGTAGA	0.512000														45			17		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117053514	117053514	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:117053514C>T	uc011mtp.2	-	4	682	c.549G>A	c.(547-549)ttG>ttA	p.L183L	KLHL13_uc004eqk.3_Silent_p.L129L|KLHL13_uc004eql.3_Silent_p.L180L|KLHL13_uc011mtn.2_Silent_p.L20L|KLHL13_uc011mto.2_Silent_p.L174L|KLHL13_uc011mtq.2_Silent_p.L164L|KLHL13_uc004eqm.3_Silent_p.L138L|KLHL13_uc022cde.1_Silent_p.L164L	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	180					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TACAGAAGTCCAAAACTGGCA	0.373000														35			56		0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173285	5173285	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5173285G>A	uc010qyy.2	-	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	105					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTGTGGATGAACCACATTT	0.443000														26			11		0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40099395	40099395	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40099395G>A	uc001zkj.1	-	1	1103	c.237C>T	c.(235-237)ttC>ttT	p.F79F	GPR176_uc010uck.1_Silent_p.F19F	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	79					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GGTTTTTAATGAACCTGTTGG	0.453000														121			52		0	0	1	0	0
ATXN10	25814	broad.mit.edu	37	22	46202900	46202900	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:46202900C>T	uc003bgm.2	+	9	1501	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	ATXN10_uc011aqt.2_Missense_Mutation_p.P348L|ATXN10_uc003bgn.2_Missense_Mutation_p.P223L	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	Homo sapiens ataxin 10 (ATXN10), transcript variant 1, mRNA.	412					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		GACAGTAACCCCTGTATCCTT	0.453000														86			31		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931196	157931196	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:157931196G>A	uc003wno.3	-	6	1043	c.922C>T	c.(922-924)Cat>Tat	p.H308Y	PTPRN2_uc003wnp.3_Missense_Mutation_p.H291Y|PTPRN2_uc003wnq.3_Missense_Mutation_p.H308Y|PTPRN2_uc003wnr.3_Missense_Mutation_p.H270Y|PTPRN2_uc011kwa.2_Missense_Mutation_p.H331Y	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	308						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGAGGGTATGAATCCGTGCT	0.617000														61			21		0	0	1	0	0
ADRA1B	147	broad.mit.edu	37	5	159344514	159344514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:159344514C>T	uc003lxt.1	+	0	775	c.602C>T	c.(601-603)cCc>cTc	p.P201L		NM_000679	NP_000670	P35368	ADA1B_HUMAN	Homo sapiens adrenergic, alpha-1B-, receptor (ADRA1B), mRNA.	201					G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	ACCGAAGAACCCTTCTATGCC	0.567000														109			46		0	0	1	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049679	36049679	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:36049679C>T	uc001uvc.3	-	1	1179	c.597G>A	c.(595-597)cgG>cgA	p.R199R	NBEA_uc021ric.1_Intron|NBEA_uc021rid.1_Intron|NBEA_uc010abi.3_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.2_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	Homo sapiens mab-21-like 1 (C. elegans) (MAB21L1), mRNA.	199					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CCTCCGCCACCCGGTTGGGTC	0.652000														73			16		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149879672	149879672	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:149879672C>T	uc001etg.3	-	8	1957	c.1466G>A	c.(1465-1467)gGg>gAg	p.G489E	SV2A_uc009wlk.3_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.G489E	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	489					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TACGCGCTCCCCGGGGAACAC	0.517000														134			49		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47366128	47366128	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47366128C>T	uc001cqo.1	-	0		c.20G>A			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		GTCCTGAGCTCTGGAAAGCCT	0.532000														2			4		0	0	1	0	0
TMEM196	256130	broad.mit.edu	37	7	19765192	19765192	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:19765192C>T	uc011jyg.2	-	2	489	c.404G>A	c.(403-405)aGg>aAg	p.R135K	TMEM196_uc003sur.3_Non-coding_Transcript	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	Homo sapiens transmembrane protein 196 (TMEM196), mRNA.	141						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						TGAGAACATCCTCCTCTGTTC	0.507000														42			22		0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45563333	45563333	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:45563333G>A	uc001uzp.2	-	0	281	c.239C>T	c.(238-240)cCc>cTc	p.P80L	KIAA1704_uc010tfo.1_5'Flank|KIAA1704_uc001uzq.3_5'Flank|KIAA1704_uc001uzr.1_5'Flank|KIAA1704_uc001uzs.3_5'Flank	NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.	80	Pro-rich.				RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		GGCGTCGAAGGGGGGCGGAGC	0.662000														24			16		0	0	1	0	0
C7orf66	154907	broad.mit.edu	37	7	108524513	108524513	+	Missense_Mutation	SNP	C	T	T	rs145510967		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:108524513C>T	uc003vfo.3	-	0	125	c.77G>A	c.(76-78)aGc>aAc	p.S26N		NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN	Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.	26						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						GCAACTGAGGCTCCAAAGTCT	0.383000														46			6		0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	618098	618098	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:618098C>T	uc001lql.3	-	13	2241	c.1974G>A	c.(1972-1974)tcG>tcA	p.S658S	IRF7_uc009ycb.3_5'Flank|IRF7_uc010qwf.2_5'Flank|IRF7_uc001lqf.3_5'Flank|IRF7_uc010qwg.2_5'Flank|IRF7_uc001lqg.3_5'Flank|IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Silent_p.S658S|CDHR5_uc009ycd.3_Silent_p.S652S|CDHR5_uc001lqk.3_Silent_p.S464S|CDHR5_uc009ycc.3_Silent_p.S492S	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	658					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GCTTGTCCTCCGAGGGGCCGC	0.652000														42			4		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039286	248039286	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248039286G>A	uc001ido.3	+	5	1004	c.956G>A	c.(955-957)tGg>tAg	p.W319*	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	319	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAGAACCATGGAGGGATGTC	0.582000														33			21		0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704373	41704373	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41704373C>T	uc002opw.3	+	3	555	c.500C>T	c.(499-501)cCa>cTa	p.P167L	CYP2S1_uc010xvx.2_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	167					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCAGGACGCCCATTCGATCCC	0.632000														135			59		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169432736	169432736	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169432736C>T	uc011cjx.2	+	1	292	c.81C>T	c.(79-81)ttC>ttT	p.F27F	PALLD_uc003iru.3_Silent_p.F27F	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	27					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTGACTTCTTCCCGGGCCTTT	0.502000									Pancreatic Cancer, Familial Clustering of					69			18		0	0	1	0	0
KIAA0913	23053	broad.mit.edu	37	10	75550745	75550745	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:75550745C>T	uc001jvj.3	+	7	1209	c.954C>T	c.(952-954)tcC>tcT	p.S318S	KIAA0913_uc001jve.3_Silent_p.S318S|KIAA0913_uc009xrl.3_Silent_p.S318S|KIAA0913_uc001jvf.3_Silent_p.S318S|KIAA0913_uc001jvh.3_5'Flank|KIAA0913_uc001jvi.3_5'Flank|KIAA0913_uc010qkr.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	318							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					ATGTGAACTCCATGTATCTGT	0.542000														64			24		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42917072	42917072	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42917072G>A	uc003cmh.3	-	0	562	c.237C>T	c.(235-237)ttC>ttT	p.F79F	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	79					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	p.F79F(2)		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)		GGTCCATGACGAAGGTGAAGT	0.483000														47			19		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71909718	71909718	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71909718C>T	uc010fen.3	+	54	6373	c.6232C>T	c.(6232-6234)Ctg>Ttg	p.L2078L	DYSF_uc010fei.3_Silent_p.L2056L|DYSF_uc010feh.3_Silent_p.L2046L|DYSF_uc002sig.4_Silent_p.L2025L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.L2070L|DYSF_uc010fee.3_Silent_p.L2060L|DYSF_uc010fef.3_Silent_p.L2077L|DYSF_uc002sie.3_Silent_p.L2039L|DYSF_uc010feo.3_Silent_p.L2071L|DYSF_uc010fej.3_Silent_p.L2047L|DYSF_uc010fel.3_Silent_p.L2026L|DYSF_uc010fem.3_Silent_p.L2061L|DYSF_uc002sif.3_Silent_p.L2040L|DYSF_uc010fek.3_Silent_p.L2057L|DYSF_uc010yqy.2_Silent_p.L920L|DYSF_uc010yqz.2_Silent_p.L800L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	2039						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAGTTCATCCTGTGGCGGCG	0.572000														91			43		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237617862	237617862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:237617862C>T	uc001hyl.1	+	14	1584	c.1464C>T	c.(1462-1464)ctC>ctT	p.L488L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	488					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)			GGCAAAATCTCTTCCAGGAAG	0.428000														16			4		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367193	107367193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107367193G>A	uc011lvq.2	-	0	716	c.716C>T	c.(715-717)tCt>tTt	p.S239F		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGAACAGGTAGAGGAAGCTTT	0.403000														64			29		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3215001	3215001	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:3215001G>A	uc002klp.3	-	1	555	c.221C>T	c.(220-222)tCg>tTg	p.S74L	MYOM1_uc002klq.3_Missense_Mutation_p.S74L	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	74						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGCGTGCTGCGAGGCCTGCTG	0.682000														28			13		0	0	1	0	0
LMF1	64788	broad.mit.edu	37	16	921181	921181	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:921181G>A	uc021tae.1	-	6	1062	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	LMF1_uc010brg.2_5'Flank|LMF1_uc010uuu.2_Missense_Mutation_p.A136V|LMF1_uc021tad.1_Missense_Mutation_p.A184V|LMF1_uc010bri.2_Missense_Mutation_p.A116V|LMF1_uc002ckk.2_Missense_Mutation_p.A136V	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA.	353						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				CTCGGGCCGGGCCCCTCGGAT	0.672000														3			3		0	0	1	0	0
LUZP4	51213	broad.mit.edu	37	X	114541218	114541218	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:114541218G>A	uc004eqa.3	+	3	825	c.791G>A	c.(790-792)aGa>aAa	p.R264K	LUZP4_uc004eqb.3_Missense_Mutation_p.R182K	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	264						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GCCACTCAGAGAGATCTCATA	0.478000														35			43		0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4705365	4705365	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4705365G>A	uc009zeh.1	+	6	720	c.678G>A	c.(676-678)ggG>ggA	p.G226G	DYRK4_uc001qmx.3_Silent_p.G111G|DYRK4_uc001qmy.2_Silent_p.G111G|DYRK4_uc021qtq.1_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	111	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			AGACAATCGGGAAGGGGTCCT	0.547000														96			55		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31588337	31588337	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:31588337G>A	uc002rnv.1	-	22	2609	c.2530C>T	c.(2530-2532)Ctg>Ttg	p.L844L		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	844					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TATCTGGCCAGGAAGGGATGT	0.577000														100			33		0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41209632	41209632	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41209632G>A	uc002oor.2	-	7	1007	c.705C>T	c.(703-705)gcC>gcT	p.A235A	ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.2_Silent_p.A194A	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	235	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GGATCTTCACGGCCACCTCCG	0.657000														69			15		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55268104	55268104	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55268104C>T	uc003tqk.3	+	23	3190	c.2944C>T	c.(2944-2946)Cag>Tag	p.Q982*	EGFR_uc022adm.1_Nonsense_Mutation_p.Q982*|EGFR_uc010kzg.2_Nonsense_Mutation_p.Q937*|EGFR_uc022adn.1_Nonsense_Mutation_p.Q937*|EGFR_uc011kco.2_Nonsense_Mutation_p.Q929*	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	982					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCTTGTCATTCAGGTACAAAT	0.522000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				58			19		0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73159785	73159785	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:73159785C>T	uc001xnc.2	-	7	755	c.742_splice	c.e7+1	p.P248_splice	DPF3_uc001xnd.1_Splice_Site|DPF3_uc001xnf.2_Splice_Site|DPF3_uc010ari.1_Splice_Site_p.P248_splice|DPF3_uc010ttq.1_Splice_Site_p.P258_splice	NM_012074	NP_036206	Q92784	DPF3_HUMAN	Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.	248					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGCACTCACGCCTGTGGTTCT	0.552000														236			26		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070255	9070255	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9070255C>T	uc002mkp.3	-	2	17395	c.17191G>A	c.(17191-17193)Gaa>Aaa	p.E5731K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5733	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						GATTGTGATTCATGTCCAGAA	0.488000														72			25		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13397555	13397555	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:13397555G>A	uc002mwy.3	-	19	3551	c.3315C>T	c.(3313-3315)ccC>ccT	p.P1105P	CACNA1A_uc010dzc.2_Silent_p.P631P|CACNA1A_uc010xnd.2_Silent_p.P1108P|CACNA1A_uc021ups.1_Silent_p.P1105P|CACNA1A_uc010xne.2_Silent_p.P1108P|CACNA1A_uc010dze.2_Silent_p.P1105P|CACNA1A_uc021upt.1_Silent_p.P1106P	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1106			G -> S (in dbSNP:rs16027).		cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGGCCAGCATGGGGCCGGGGT	0.726000														18			6		0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40300277	40300277	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40300277C>T	uc001zkm.1	+	24	3507	c.3457C>T	c.(3457-3459)Ccc>Tcc	p.P1153S	EIF2AK4_uc010bbj.1_Missense_Mutation_p.P854S|EIF2AK4_uc001zkn.1_Missense_Mutation_p.P253S|EIF2AK4_uc001zko.1_Missense_Mutation_p.P91S|EIF2AK4_uc010bbk.1_Non-coding_Transcript	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	1153	Histidyl-tRNA synthetase-like.				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)		TCGATTTCATCCCAAAGAACT	0.408000														185			54		0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85950141	85950141	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:85950141C>T	uc004eew.2	+	4	1060	c.890C>T	c.(889-891)cCa>cTa	p.P297L	DACH2_uc004eex.2_Missense_Mutation_p.P284L|DACH2_uc010nmq.2_Missense_Mutation_p.P163L|DACH2_uc011mra.1_Missense_Mutation_p.P130L|DACH2_uc010nmr.2_Missense_Mutation_p.P78L	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.P297Q(2)|p.A296A(1)|p.P284Q(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGGGGTGCTCCAACCCTCAAT	0.493000														6			11		0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111494481	111494481	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111494481G>A	uc001eaa.3	-	1	1281	c.1025C>T	c.(1024-1026)cCt>cTt	p.P342L	LRIF1_uc001dzz.3_Intron|LRIF1_uc001eab.3_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.P342P(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CGTCCCACTAGGATCGATGGT	0.343000														141			42		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55021669	55021669	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:55021669C>T	uc002lgn.3	+	1	573	c.216C>T	c.(214-216)ttC>ttT	p.F72F		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	72					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		ACCCGTCATTCGTGCCCATTA	0.498000														164			29		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152402475	152402475	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152402475C>T	uc021vrb.1	-	105	15430	c.15401G>A	c.(15400-15402)cGa>cAa	p.R5134Q	NEB_uc002txr.3_Missense_Mutation_p.R1600Q|NEB_uc002txu.3_Missense_Mutation_p.R6835Q|NEB_uc021vrc.1_Missense_Mutation_p.R6835Q|NEB_uc010fnx.3_Missense_Mutation_p.R5122Q|NEB_uc021vrd.1_Missense_Mutation_p.R5134Q	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5134					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTATTTGTCTCGCATCTTCCT	0.343000														13			7		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179503926	179503926	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179503926C>T	uc001gmo.3	+	24	3247	c.2860C>T	c.(2860-2862)Cat>Tat	p.H954Y	AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.H838Y|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	954	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGAGAAACTTCATCATACCCT	0.348000														107			36		0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224437953	224437953	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:224437953G>A	uc001hok.3	-	18	2312	c.2250C>T	c.(2248-2250)ccC>ccT	p.P750P	NVL_uc001hol.3_Silent_p.P644P|NVL_uc010pvd.2_Silent_p.P659P|NVL_uc010pve.2_Silent_p.P561P|NVL_uc010pvf.2_Non-coding_Transcript	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	750						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		GATCTGCAGGGGGCGGTAAAC	0.398000														80			22		0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78672008	78672008	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:78672008G>A	uc003kfy.3	-	8	1992	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	HOMER1_uc010jab.3_3'UTR|HOMER1_uc010jac.3_Missense_Mutation_p.R167W|HOMER1_uc010jad.3_Missense_Mutation_p.R123W	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	297					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TCTTTGTTCCGAATTTCTACT	0.368000														109			43		0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155412	106155412	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:106155412G>A	uc011cez.2	+	2	781	c.376G>A	c.(376-378)Ggg>Agg	p.G126R	TET2_uc003hxk.3_Missense_Mutation_p.G105R|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.G105R|TET2_uc010ilp.2_Missense_Mutation_p.G105R|TET2_uc021xql.1_Missense_Mutation_p.G105R	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	105					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.F125fs*3(1)|p.G126V(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTCTCTCTCTGGGCTCCTTCA	0.423000			"""Mis N, F"""		MDS									53			26		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802502	27802502	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27802502G>A	uc002rkz.4	+	0	3114	c.3063G>A	c.(3061-3063)ggG>ggA	p.G1021G		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1021										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CATGTGCAGGGGGCCAGCTTC	0.438000														92			16		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841134	13841134	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13841134G>A	uc003jfd.2	-	33	5632	c.5590C>T	c.(5590-5592)Ctg>Ttg	p.L1864L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1864	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)					AGTAGCTCCAGGAAAGCCTGA	0.403000									Kartagener syndrome					73			23		0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73735384	73735384	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:73735384G>A	uc010ttx.2	+	24	3783	c.3620G>A	c.(3619-3621)gGg>gAg	p.G1207E	PAPLN_uc001xnw.4_Missense_Mutation_p.G1180E|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Intron|PAPLN_uc010tty.2_Missense_Mutation_p.G1191E|PAPLN_uc010arm.3_Missense_Mutation_p.G406E|PAPLN_uc010arn.3_Intron	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	1207	Ig-like C2-type 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCTACCAGGGGAGCCAGGCA	0.592000														31			14		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33463397	33463397	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:33463397G>A	uc003zsz.3	-	23	3138	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C	NOL6_uc003zsy.3_Missense_Mutation_p.R67C|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Missense_Mutation_p.R1010C|NOL6_uc011lob.2_Missense_Mutation_p.R961C|NOL6_uc003ztb.1_Intron	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	1013					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGAGACAGGCGAATCAGCACG	0.652000														33			9		0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17531718	17531718	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17531718C>T	uc001bah.1	+	0	98	c.6C>T	c.(4-6)gcC>gcT	p.A2A		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	2					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.A2S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ACAGGATGGCCCCAAAGAGAG	0.587000														24			12		0	0	1	0	0
ProSAPiP1	9762	broad.mit.edu	37	20	3147736	3147736	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3147736G>A	uc002wia.1	-	0	1472	c.74C>T	c.(73-75)cCc>cTc	p.P25L	ProSAPiP1_uc002wib.1_Missense_Mutation_p.P25L	NM_014731	NP_055546	O60299	PRIP1_HUMAN	Homo sapiens ProSAPiP1 protein (ProSAPiP1), mRNA.	25						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AAGCTCGGAGGGCCGTGGGGC	0.701000														2			3		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196801382	196801382	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196801382G>A	uc002utj.4	-	19	3314	c.3213C>T	c.(3211-3213)ttC>ttT	p.F1071F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1071	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACAAAAAAAAGAATCTGGGGA	0.328000														53			26		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34100921	34100921	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34100921C>T	uc001bxm.1	-	30	5156	c.4979G>A	c.(4978-4980)gGg>gAg	p.G1660E	CSMD2_uc001bxn.1_Missense_Mutation_p.G1620E|CSMD2_uc001bxo.1_Missense_Mutation_p.G533E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1620	CUB 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATACTGTCCCCCACAGGGGGC	0.552000											OREG0013349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			9		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646757	57646757	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57646757G>A	uc002qnz.1	-	4	1334	c.948C>T	c.(946-948)ttC>ttT	p.F316F		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTTGTAAATGAAAGCCTTTC	0.403000														128			52		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152468714	152468714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152468714G>A	uc021vrb.1	-	72	11091	c.11062C>T	c.(11062-11064)Ctg>Ttg	p.L3688L	NEB_uc002txu.3_Silent_p.L3931L|NEB_uc021vrc.1_Silent_p.L3931L|NEB_uc010fnx.3_Silent_p.L3676L|NEB_uc021vrd.1_Silent_p.L3688L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3688					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCATTGTCAGGGCATTATTC	0.458000														53			11		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307203	162307203	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:162307203G>A	uc003iqh.3	-	15	2676	c.2240C>T	c.(2239-2241)tCc>tTc	p.S747F	FSTL5_uc003iqi.3_Missense_Mutation_p.S746F|FSTL5_uc010iqv.3_Missense_Mutation_p.S737F	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	747						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTCAGTAAAGGATGGTTGAAA	0.413000														64			25		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975341	20975341	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20975341C>T	uc010vbe.2	-	52	9865	c.9865G>A	c.(9865-9867)Gag>Aag	p.E3289K	DNAH3_uc010vbd.2_Missense_Mutation_p.E724K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3289					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCCGAGTCTCGTCAATCTGC	0.498000														106			45		0	0	1	0	0
C2orf76	130355	broad.mit.edu	37	2	120097505	120097505	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:120097505G>A	uc002tls.2	-	2	572	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	C2orf76_uc010flf.1_Missense_Mutation_p.R11C|C2orf76_uc010yyg.1_Non-coding_Transcript|C2orf76_uc002tlt.2_Missense_Mutation_p.R11C|C2orf76_uc002tlu.2_Missense_Mutation_p.R11C	NM_001017927	NP_001017927	Q3KRA6	CB076_HUMAN	Homo sapiens chromosome 2 open reading frame 76 (C2orf76), mRNA.	11										large_intestine(1)|lung(3)|pancreas(1)	5						CGGATGAGGCGAACTGTGATG	0.433000														60			17		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33559689	33559689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:33559689G>A	uc001iwx.4	-	2	867	c.344C>T	c.(343-345)tCa>tTa	p.S115L	NRP1_uc001iwv.4_Missense_Mutation_p.S115L|NRP1_uc001iwy.4_Missense_Mutation_p.S115L|NRP1_uc009xlz.3_Missense_Mutation_p.S115L|NRP1_uc001iww.4_Intron|NRP1_uc001iwz.2_Missense_Mutation_p.S115L|NRP1_uc001ixa.2_Missense_Mutation_p.S115L|NRP1_uc001ixb.2_Missense_Mutation_p.S115L|NRP1_uc001ixc.1_Missense_Mutation_p.S115L	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	115	CUB 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	AAATGGCCCTGAAGACACAAC	0.403000														64			24		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42297140	42297140	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42297140C>T	uc021sjp.1	-	4	562	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	170					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		ACTCACCTCTCCTCCAGCAGG	0.622000														19			3		0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101773360	101773360	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:101773360G>A	uc001pgl.3	-	5	1128	c.532C>T	c.(532-534)Cca>Tca	p.P178S		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	178	Fibrinogen C-terminal.				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)		ACCTCAAATGGGTAGCTAGAT	0.333000														68			30		0	0	1	0	0
C9orf47	286223	broad.mit.edu	37	9	91606031	91606031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:91606031C>T	uc004aqd.3	+	0	254	c.121C>T	c.(121-123)Cca>Tca	p.P41S	S1PR3_uc004aqe.3_5'Flank|C9orf47_uc004aqc.2_Missense_Mutation_p.P41S	NM_001001938	NP_001001938	Q6ZRZ4	CI047_HUMAN	Homo sapiens chromosome 9 open reading frame 47 (C9orf47), transcript variant 1, mRNA.	41						extracellular region				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						GGACCTGGTTCCAAGCCTGTT	0.612000														22			13		0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76386875	76386875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:76386875C>T	uc003pid.4	+	13	2370	c.1751C>T	c.(1750-1752)cCc>cTc	p.P584L	SENP6_uc003pie.4_Missense_Mutation_p.P577L|SENP6_uc010kbf.3_Non-coding_Transcript|SENP6_uc003pic.2_Missense_Mutation_p.P577L|SENP6_uc003pif.1_Missense_Mutation_p.P475L	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	584					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GCGAAAATTCCCTTTGAAGAA	0.343000														43			9		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28343065	28343065	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:28343065C>T	uc001iua.1	-	18	2064	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.E554K|MPP7_uc009xla.2_Missense_Mutation_p.E554K	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	554	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTTTTGAGCTCATTGAATGCC	0.328000														38			18		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21245915	21245915	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21245915C>T	uc002red.3	-	18	2733	c.2605_splice	c.e18-1	p.M869_splice		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	869					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGCCTGCATCTATAAGTCAG	0.473000														72			29		0	0	1	0	0
OGG1	4968	broad.mit.edu	37	3	9798279	9798279	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:9798279C>A	uc003bsi.3	+	4	1215	c.872C>A	c.(871-873)cCg>cAg	p.P291Q	OGG1_uc003bsj.3_Missense_Mutation_p.P291Q|OGG1_uc003bsh.3_Missense_Mutation_p.P291Q|OGG1_uc003bsl.3_Missense_Mutation_p.P291Q|OGG1_uc003bsk.3_Missense_Mutation_p.P291Q|OGG1_uc003bsm.3_Missense_Mutation_p.P291Q|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|OGG1_uc003bsr.2_Missense_Mutation_p.P56Q|OGG1_uc010hcm.2_Intron|OGG1_uc003bsq.2_Intron|OGG1_uc003bsp.2_Missense_Mutation_p.P56Q	NM_002542	NP_002533	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.	291					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					GCGAAGGGACCGAGCCCCCAG	0.602000								Base excision repair (BER), DNA glycosylases						47			18		1.00905e-13	1.01369e-13	1	1	0
LPIN3	64900	broad.mit.edu	37	20	39986644	39986644	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:39986644C>T	uc010ggh.3	+	16	2256	c.2165C>T	c.(2164-2166)tCt>tTt	p.S722F	LPIN3_uc002xjx.3_Missense_Mutation_p.S721F|LPIN3_uc010zwf.2_Intron	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	721	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ATCCTTCTGTCTCCCAGCAGC	0.672000														84			21		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118105316	118105316	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:118105316G>A	uc001two.2	-	4	1102	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	378					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.F348L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGAGGGGTGGAAGGCAGGA	0.627000														14			3		0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100378688	100378688	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:100378688G>A	uc003duc.3	+	14	2247	c.1979_splice	c.e14+1	p.S660_splice	GPR128_uc011bhc.2_Splice_Site_p.S361_splice|GPR128_uc003dud.3_Splice_Site_p.S183_splice	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	660					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ACCTGACAAGGTAAGATTCCC	0.428000														45			16		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227924928	227924928	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:227924928G>A	uc021vxr.1	-	25	2189	c.2088C>T	c.(2086-2088)gcC>gcT	p.A696A	COL4A4_uc021vxs.1_Silent_p.A696A	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	696	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.G695C(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCAGCCCAGGGGCACCTTGGG	0.428000														107			50		0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42689053	42689053	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42689053G>A	uc001zpn.1	+	8	1477	c.1171G>A	c.(1171-1173)Gtc>Atc	p.V391I	CAPN3_uc001zpk.1_Missense_Mutation_p.V164I|CAPN3_uc001zpl.1_Missense_Mutation_p.V304I|CAPN3_uc010udf.1_Missense_Mutation_p.V304I|CAPN3_uc010udg.1_Missense_Mutation_p.V256I|CAPN3_uc001zpo.1_Missense_Mutation_p.V391I|CAPN3_uc001zpp.1_Missense_Mutation_p.V343I	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	391	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GCAGCACCAGGTCACTGAGGA	0.542000														78			5		0	0	1	0	0
CH25H	9023	broad.mit.edu	37	10	90966300	90966300	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:90966300G>A	uc001kfz.3	-	0	772	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_003956	NP_003947	O95992	CH25H_HUMAN	Homo sapiens cholesterol 25-hydroxylase (CH25H), mRNA.	250					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		AGTACGGAGCGAAGTTGCAGT	0.582000														16			19		0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96970536	96970536	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96970536C>T	uc001kke.3	+	4	866	c.741C>T	c.(739-741)ttC>ttT	p.F247F	C10orf129_uc009xuu.1_Silent_p.F157F	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	247					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GAATGGGATTCAGCCAGGCTT	0.493000														59			21		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53007622	53007622	+	Silent	SNP	G	A	A	rs143904861		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53007622G>A	uc001sas.3	-	4	869	c.834C>T	c.(832-834)atC>atT	p.I278I		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	278	Coil 1B.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTGGGACTGGATCTGAGCAG	0.567000														92			31		0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44148716	44148716	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:44148716G>A	uc001rns.4	-	1	413	c.333C>T	c.(331-333)atC>atT	p.I111I	PUS7L_uc001rnq.4_Silent_p.I111I|PUS7L_uc001rnr.4_Silent_p.I111I|PUS7L_uc009zkb.3_Intron	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	111					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTCCATCAACGATAGTATCTT	0.348000														63			26		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	173024	173024	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:173024G>A	uc003jak.2	+	14	3045	c.2995G>A	c.(2995-2997)Gaa>Aaa	p.E999K		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	999	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAATTTGAAGGAACAGGGGCA	0.498000														74			31		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66929360	66929360	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:66929360C>T	uc002jhq.3	-	5	859	c.519G>A	c.(517-519)tgG>tgA	p.W173*	ABCA8_uc002jhp.3_Nonsense_Mutation_p.W173*|ABCA8_uc010wqq.2_Nonsense_Mutation_p.W173*|ABCA8_uc010wqr.2_Nonsense_Mutation_p.W112*|ABCA8_uc002jhr.3_Nonsense_Mutation_p.W173*|ABCA8_uc002jhs.3_Nonsense_Mutation_p.W173*|ABCA8_uc002jht.3_Nonsense_Mutation_p.W173*	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	173						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AACCTTCCTTCCAAAATACTG	0.303000														143			49		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66101939	66101939	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:66101939G>A	uc001dci.3	+	19	3128	c.2739G>A	c.(2737-2739)ttG>ttA	p.L913L	LEPR_uc009waq.3_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	913					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTCTTCTTTTGGAGCCTGAAA	0.368000														198			68		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29044154	29044154	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29044154C>T	uc002kws.3	+	8	1189	c.1080C>T	c.(1078-1080)atC>atT	p.I360I		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	360	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATCAGTTATCTCTCGATACC	0.368000														60			24		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652734	121652734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:121652734C>T	uc003vjy.3	+	11	4029	c.3634C>T	c.(3634-3636)Ccc>Tcc	p.P1212S	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1212					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGTTGAAACCCCCAAAGTTGA	0.388000														172			56		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142488856	142488856	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:142488856C>T	uc003ywi.2	-	9	1186	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	369							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGCGCAGGTCCTCCGAGTTC	0.662000														6			7		0	0	1	0	0
IHH	3549	broad.mit.edu	37	2	219920427	219920427	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219920427G>A	uc002vjo.2	-	2	787	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_002181	NP_002172	Q14623	IHH_HUMAN	Homo sapiens Indian hedgehog (IHH), mRNA.	246				F -> L (in Ref. 1; BAA33523).	cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCGGTCCAGGAAAATGAGCA	0.657000														57			23		0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6753012	6753012	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:6753012C>T	uc003jdx.1	+	11	1425	c.1296C>T	c.(1294-1296)acC>acT	p.T432T	PAPD7_uc011cmn.2_Silent_p.T432T|PAPD7_uc010itl.1_Silent_p.T252T	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	432					DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTCCACCGACCCTAGGGGTTG	0.527000														73			31		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061180	9061180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9061180G>A	uc002mkp.3	-	2	26470	c.26266C>T	c.(26266-26268)Cct>Tct	p.P8756S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8758	Ser-rich.|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						GATTGAGCAGGACCTGGGGTG	0.498000														79			20		0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41265035	41265035	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:41265035C>T	uc003azh.3	+	1	198	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F	XPNPEP3_uc011aox.2_Missense_Mutation_p.L33F|XPNPEP3_uc003azi.3_5'UTR|XPNPEP3_uc011aoy.1_Non-coding_Transcript|XPNPEP3_uc010gyh.1_Non-coding_Transcript	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	33					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						AAGGTACTCCCTTCAGCCTGT	0.438000														111			56		0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95263230	95263230	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:95263230C>T	uc011lty.2	-	8	1897	c.1710G>A	c.(1708-1710)cgG>cgA	p.R570R	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Silent_p.R548R|ECM2_uc004asg.3_Silent_p.R548R|ECM2_uc010mqz.2_5'UTR	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	570					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						AGCCAGGGATCCGTTCAATCT	0.483000														74			20		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23809324	23809324	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:23809324C>T	uc003sws.4	+	12	1729	c.1662C>T	c.(1660-1662)atC>atT	p.I554I	STK31_uc003swt.4_Silent_p.I531I|STK31_uc011jze.2_Silent_p.I554I|STK31_uc010kuq.3_Silent_p.I531I	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	554							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTGATGAAATCCTAGAGAAGA	0.373000														181			68		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701623	56701623	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56701623G>A	uc010ygh.2	-	3	1061	c.1061C>T	c.(1060-1062)cCc>cTc	p.P354L		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	354					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P353L(1)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACATGCAAAGGGCGGCAGGGC	0.527000														82			29		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259263	89259263	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:89259263G>A	uc003dqy.3	+	2	632	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	EPHA3_uc003dqx.1_Missense_Mutation_p.R136Q|EPHA3_uc021xbf.1_Missense_Mutation_p.R136Q	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	136						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTGAAATTTCGAGAGCATCAG	0.418000										TSP Lung(6;0.00050)				168			33		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966858	39966859	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:39966858_39966859CC>TT	uc003ayc.3	+	0	101_102	c.101_102CC>TT	c.(100-102)tcc>tTT	p.S34F	CACNA1I_uc003ayd.3_Missense_Mutation_p.S34F	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	34					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCCCCATCCTCCCCGCCAGGCC	0.683000														27			17		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616111	92616111	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92616111C>T	uc001pdj.4	+	22	12506	c.12489C>T	c.(12487-12489)ttC>ttT	p.F4163F	FAT3_uc001pdi.4_Silent_p.F603F	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4163					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGTCCTCTTCGTCATCTTCA	0.592000										TCGA Ovarian(4;0.039)				17			12		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115399878	115399878	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:115399878C>T	uc001efr.3	+	3	428	c.219C>T	c.(217-219)ttC>ttT	p.F73F	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.F73F|SYCP1_uc009wgw.3_Silent_p.F73F	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	73	Asp/Glu-rich (acidic).				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)		AAGTTAATTTCTTGCCCGTGC	0.313000														43			10		0	0	1	0	0
FCN1	2219	broad.mit.edu	37	9	137809704	137809704	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:137809704C>T	uc004cfi.3	-	0	103	c.14G>A	c.(13-15)gGa>gAa	p.G5E		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	5					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CATGGTGGCTCCACTCAGCTC	0.582000														62			21		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807339	143807339	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143807339G>A	uc011ktz.2	+	0	664	c.664G>A	c.(664-666)Ggg>Agg	p.G222R		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GCACATCCTCGGGGCCATCCT	0.517000														136			61		0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568521	140568521	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140568521G>A	uc003liw.1	+	1	1627	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	544	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGAGCAGCGAGGCGCTGGT	0.687000														113			11		0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232592	56232592	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56232592C>T	uc010wno.2	+	0	78	c.78C>T	c.(76-78)ttC>ttT	p.F26F	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCCAGAAATTCCTGTTCCTTC	0.478000														162			66		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239181733	239181733	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:239181733G>A	uc002vyc.3	-	4	785	c.548C>T	c.(547-549)tCt>tTt	p.S183F	PER2_uc010znv.1_Missense_Mutation_p.S183F|PER2_uc010znw.1_Missense_Mutation_p.S183F|PER2_uc010fyx.1_Missense_Mutation_p.S183F	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	183	PAS 1.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AATGTGCTCAGAGGTAACGCT	0.552000														58			22		0	0	1	0	0
KIAA0391	9692	broad.mit.edu	37	14	35649969	35649969	+	Missense_Mutation	SNP	C	T	T	rs147065101		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:35649969C>T	uc001wsy.1	+	4	1621	c.1261C>T	c.(1261-1263)Cgt>Tgt	p.R421C	KIAA0391_uc010tps.1_Missense_Mutation_p.R326C|KIAA0391_uc001wsz.1_Missense_Mutation_p.R405C|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Missense_Mutation_p.R49C	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	421					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TCCTAAAGTTCGTGAATCTCA	0.333000														54			13		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115947782	115947782	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115947782G>A	uc001lbg.1	+	1	345	c.192G>A	c.(190-192)aaG>aaA	p.K64K	TDRD1_uc001lbf.3_Silent_p.K55K|TDRD1_uc001lbh.1_Silent_p.K55K|TDRD1_uc001lbi.1_Silent_p.K55K	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	64					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAAATAAAAAGAACAATTTTT	0.388000														116			44		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347430	48347431	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:48347430_48347431CC>TT	uc010rhv.2	+	0	938_939	c.938_939CC>TT	c.(937-939)acc>aTT	p.T313I		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTCATTTATACCCTGAGAAATG	0.322000														60			14		0	0	1	0	0
C14orf105	55195	broad.mit.edu	37	14	57947410	57947410	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:57947410C>T	uc010trl.1	-	4	698	c.555G>A	c.(553-555)agG>agA	p.R185R	C14orf105_uc001xcy.2_Silent_p.R186R|C14orf105_uc010trm.1_Silent_p.R97R|C14orf105_uc010trn.1_Silent_p.R97R|C14orf105_uc001xcz.2_Silent_p.R185R|C14orf105_uc010aox.1_Non-coding_Transcript|C14orf105_uc010aoy.2_Silent_p.R107R	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	Homo sapiens chromosome 14 open reading frame 105 (C14orf105), mRNA.	186										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CTTTATGGTCCCTTGGACTTT	0.418000														121			50		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515551	140515551	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140515551C>T	uc003liq.3	+	0	752	c.535C>T	c.(535-537)Cat>Tat	p.H179Y		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	179	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCACACTTTCATGTTGCTAC	0.507000														83			33		0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187864	42187864	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42187864G>A	uc002ori.1	-	2	560	c.558C>T	c.(556-558)ctC>ctT	p.L186L	CEACAM7_uc010ehx.2_Silent_p.L186L|CEACAM7_uc010ehy.1_Intron	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	186	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane		p.S185N(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GACTGACCAGGAGGCTCTGAT	0.478000														113			47		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57809130	57809130	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:57809130C>T	uc010bfw.3	+	9	2749	c.2556C>T	c.(2554-2556)atC>atT	p.I852I	CGNL1_uc002aeg.3_Silent_p.I852I	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	852						myosin complex|tight junction	motor activity	p.I852I(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AAAGGCAGATCGAGGACCTGA	0.577000														32			8		0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66795861	66795861	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:66795861C>T	uc002sdu.3	+	10	1544	c.1087C>T	c.(1087-1089)Cag>Tag	p.Q363*	MEIS1_uc002sdt.3_Nonsense_Mutation_p.Q363*|MEIS1_uc010yqh.2_Non-coding_Transcript|MEIS1_uc010yqi.2_Nonsense_Mutation_p.Q298*|MEIS1_uc002sdw.1_Nonsense_Mutation_p.Q219*|MEIS1_uc021vit.1_5'Flank	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Homo sapiens Meis homeobox 1 (MEIS1), mRNA.	363	Required for transcriptional activation (By similarity).						sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						AATGGACGGTCAGCAACATAT	0.408000														199			52		0	0	1	0	0
IFIT1B	439996	broad.mit.edu	37	10	91144246	91144246	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:91144246G>A	uc001kgh.3	+	1	1256	c.1176G>A	c.(1174-1176)ggG>ggA	p.G392G	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA.	392							binding			endometrium(2)|large_intestine(3)|lung(8)	13						AACATCATGGGAAATCTCAAG	0.363000														74			28		0	0	1	0	0
OXSM	54995	broad.mit.edu	37	3	25832704	25832704	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:25832704C>T	uc003cdn.3	+	1	300	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C	NGLY1_uc011awo.2_5'Flank|OXSM_uc010hfh.3_Missense_Mutation_p.R65C|OXSM_uc011awp.2_5'UTR	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	Homo sapiens 3-oxoacyl-ACP synthase, mitochondrial (OXSM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	65					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.R65C(2)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGTTTGGGATCGTCTTATCGG	0.463000														134			57		0	0	1	0	0
LOC283194	283194	broad.mit.edu	37	11	58746740	58746740	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58746740C>T	uc001nng.1	-	4		c.408G>A			AB231722_uc001nnk.1_Non-coding_Transcript					Homo sapiens uncharacterized LOC283194 (LOC283194), non-coding RNA.																		ATCCAGATCTCCATCTCTGAG	0.473000														16			7		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45295117	45295117	+	Missense_Mutation	SNP	G	A	A	rs56126236		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:45295117G>A	uc010olf.2	-	8	1184	c.1172C>T	c.(1171-1173)tCt>tTt	p.S391F	PTCH2_uc021omv.1_Missense_Mutation_p.S391F|PTCH2_uc010olg.2_Missense_Mutation_p.S90F	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	391					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					ACTGACTTCAGAGAACGCATG	0.622000									Basal Cell Nevus syndrome					100			36		0	0	1	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138202199	138202199	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:138202199C>T	uc003qhr.3	+	8	2182	c.2116C>T	c.(2116-2118)Cga>Tga	p.R706*	TNFAIP3_uc003qhs.3_Nonsense_Mutation_p.R706*	NM_006290	NP_006281	P21580	TNAP3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 3 (TNFAIP3), mRNA.	706	Interaction with NAF1 (By similarity).				B-1 B cell homeostasis|anti-apoptosis|apoptosis|negative regulation of B cell activation|negative regulation of CD40 signaling pathway|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of bone resorption|negative regulation of endothelial cell apoptosis|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	DNA binding|caspase inhibitor activity|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AGATGTGCCTCGAACCACACA	0.542000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""									55			18		0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92826798	92826798	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92826798C>T	uc011khy.2	-	6	1230	c.1207_splice	c.e6+1	p.V403_splice	HEPACAM2_uc003uml.3_Splice_Site_p.V368_splice|HEPACAM2_uc010lff.3_Splice_Site_p.G368_splice|HEPACAM2_uc003umm.3_Splice_Site_p.V380_splice	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	380						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTTAACCTACCTTTGTAGGGT	0.269000														54			9		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10392112	10392112	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10392112G>A	uc003bvt.3	-	14	2725	c.2286C>T	c.(2284-2286)ttC>ttT	p.F762F	ATP2B2_uc003bvv.3_Silent_p.F717F|ATP2B2_uc003bvw.3_Silent_p.F717F|ATP2B2_uc010hdo.3_Silent_p.F467F	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	762					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCCTCCTGTTGAACTCCTTGC	0.592000														55			32		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47364527	47364527	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47364527G>A	uc001cqo.1	-	1		c.348C>T			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		TGTCTTTTCAGGAGAATCTTG	0.478000														70			39		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504230	70504230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:70504230C>T	uc001dep.3	+	18	2639	c.2609C>T	c.(2608-2610)cCa>cTa	p.P870L	LRRC7_uc009wbg.3_Missense_Mutation_p.P154L|LRRC7_uc001deq.3_Missense_Mutation_p.P111L	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	870						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						ACTACCAGCCCATTGCCTGAA	0.468000														112			51		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89392839	89392839	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89392839C>T	uc010upo.1	+	9	2277	c.1903C>T	c.(1903-1905)Ccc>Tcc	p.P635S	ACAN_uc002bmx.3_Missense_Mutation_p.P635S|ACAN_uc010upp.1_Missense_Mutation_p.P635S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	635					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)			CCTCCGCTACCCCATCGTCAC	0.687000														21			6		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107041545	107041545	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:107041545C>T	uc010ywi.1	-	19	2935	c.2878G>A	c.(2878-2880)Ggt>Agt	p.G960S		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	960					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AAAATCACACCACGGCCCTTC	0.403000														284			78		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570356	61570356	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61570356C>T	uc010xeu.2	+	8	1398	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	SERPINB2_uc002ljo.3_Silent_p.F355F|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	355					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)	CTGAAGTGTTCCACCAAGCCA	0.542000														83			27		0	0	1	0	0
TGIF2	60436	broad.mit.edu	37	20	35240525	35240525	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:35240525C>T	uc002xfr.3	+	2	549	c.331C>T	c.(331-333)Cgt>Tgt	p.R111C	TGIF2_uc002xfo.3_3'UTR|TGIF2_uc002xfs.3_3'UTR|TGIF2_uc002xfq.3_3'UTR|TGIF2_uc002xft.3_Non-coding_Transcript	NM_199483	NP_955777	Q9GZN2	TGIF2_HUMAN	Homo sapiens chromosome 20 open reading frame 24 (C20orf24), transcript variant 2, mRNA.	0	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGAACTTGATCGTTGGGGAAC	0.512000														441			45		0	0	1	0	0
SPN	6693	broad.mit.edu	37	16	29675707	29675707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:29675707G>A	uc021tgd.1	+	0	658	c.658G>A	c.(658-660)Gga>Aga	p.G220R	BOLA2_uc010bzb.1_Intron|SPN_uc002dtm.3_Missense_Mutation_p.G220R|SPN_uc002dtn.3_Missense_Mutation_p.G220R	NM_003123	NP_003114	P16150	LEUK_HUMAN	Homo sapiens sialophorin (SPN), transcript variant 2, mRNA.	220					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CGGGGCCAGTGGACCCCAGGT	0.567000														125			14		0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74429817	74429817	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:74429817G>A	uc001ovh.3	-	1	396	c.143C>T	c.(142-144)cCc>cTc	p.P48L	CHRDL2_uc001ovg.3_5'UTR|CHRDL2_uc001ovi.3_Missense_Mutation_p.P48L|CHRDL2_uc001ovk.1_Missense_Mutation_p.P48L	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	48	VWFC 1.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CTCCAAGTAGGGGTGCCAGCT	0.587000														25			7		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71391399	71391399	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:71391399C>T	uc010dfm.3	-	24	3487	c.3487G>A	c.(3487-3489)Gag>Aag	p.E1163K	SDK2_uc002jjt.4_Missense_Mutation_p.E322K|SDK2_uc010dfn.2_Missense_Mutation_p.E842K	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1163	Fibronectin type-III 6.				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						TCCAGGTCCTCGATGGTGTAG	0.647000														26			12		0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56385698	56385698	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:56385698G>A	uc010bfn.3	-	8	4228	c.4228C>T	c.(4228-4230)Cgt>Tgt	p.R1410C	RFX7_uc010ugk.1_Intron|RFX7_uc002adn.1_Intron	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	1313					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCCTGCTGACGACCTGGATCA	0.398000														44			13		0	0	1	0	0
NR2E3	10002	broad.mit.edu	37	15	72104690	72104690	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72104690G>A	uc002ati.3	+	4	776	c.586G>A	c.(586-588)Gat>Aat	p.D196N	NR2E3_uc002ath.1_Missense_Mutation_p.D196N	NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA.	196					phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						TGAGAATATTGATGTCACCAG	0.582000														138			46		0	0	1	0	0
ANGPTL7	10218	broad.mit.edu	37	1	11253760	11253760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11253760G>A	uc001ase.3	+	2	840	c.601G>A	c.(601-603)Gac>Aac	p.D201N	MTOR_uc001asd.3_Intron	NM_021146	NP_066969	O43827	ANGL7_HUMAN	Homo sapiens angiopoietin-like 7 (ANGPTL7), mRNA.	201	Fibrinogen C-terminal.				response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		CATCCGTGGGGACTTCTGGCT	0.597000														58			26		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236205533	236205533	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:236205533G>A	uc001hxo.3	-	3	914	c.812C>T	c.(811-813)aCc>aTc	p.T271I	NID1_uc009xgd.3_Missense_Mutation_p.T271I	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	271					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CACGCCATTGGTGGTGGCTGG	0.552000														216			95		0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160604751	160604751	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:160604751C>T	uc002uax.3	+	4	1072	c.950C>T	c.(949-951)tCt>tTt	p.S317F	MARCH7_uc010foq.3_Missense_Mutation_p.S317F|MARCH7_uc010zcn.2_Missense_Mutation_p.S261F|MARCH7_uc010for.3_Missense_Mutation_p.S279F|MARCH7_uc002uay.3_Non-coding_Transcript	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.	317	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TCTTACGTTTCTCCAAGAATC	0.393000														45			29		0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44596233	44596233	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44596233C>T	uc001clp.3	+	2	1033	c.975C>T	c.(973-975)ttC>ttT	p.F325F		NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	325					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GGTCTTTCTTCCGTTCTGATG	0.463000														85			38		0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14512561	14512561	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:14512561C>T	uc002myl.3	+	10	1552	c.1172C>T	c.(1171-1173)gCc>gTc	p.A391V	CD97_uc002mym.3_Missense_Mutation_p.A342V|CD97_uc002myn.3_Missense_Mutation_p.A298V	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	391					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCAGCTGGAGCCGAGGATCCA	0.607000														26			4		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142180806	142180806	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:142180806G>A	uc003eux.4	-	41	7290	c.7168C>T	c.(7168-7170)Ctg>Ttg	p.L2390L	ATR_uc003euy.1_Silent_p.L276L	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2390	PI3K/PI4K.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AGTTTGGTCAGAATAGGTCTC	0.303000								Other conserved DNA damage response genes						227			71		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52508883	52508883	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:52508883G>A	uc001wzo.3	-	6	1999	c.1765C>T	c.(1765-1767)Ctg>Ttg	p.L589L	NID2_uc010tqs.2_Silent_p.L589L|NID2_uc010tqt.1_Silent_p.L589L|NID2_uc001wzp.3_Silent_p.L589L	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	589	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding	p.L589L(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CAGCCAAACAGGCCTCCAATT	0.582000														138			79		0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27360240	27360240	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27360240C>T	uc002rjb.2	-	2	1538	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|C2orf53_uc021vfb.1_Missense_Mutation_p.E320K	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	320										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCCTGCTTCCTTCGGCCTT	0.667000														60			25		0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47707561	47707561	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:47707561G>A	uc001ngg.3	-	10	1974	c.1672C>T	c.(1672-1674)Cat>Tat	p.H558Y	AGBL2_uc001ngf.3_Intron|AGBL2_uc010rhq.1_Missense_Mutation_p.H520Y|AGBL2_uc001ngh.1_Missense_Mutation_p.H502Y	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	558					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CTGTGGCCATGGAAATCACAA	0.383000														68			41		0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726366	168726366	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:168726366C>T	uc021vsc.1	+	0	817	c.817C>T	c.(817-819)Cga>Tga	p.R273*	B3GALT1_uc002udz.1_Nonsense_Mutation_p.R273*	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	273					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						ACTGTGTCTTCGAAAGCTGGG	0.463000														64			26		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74489326	74489326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74489326G>A	uc002sko.1	-	5	751	c.749C>T	c.(748-750)cCg>cTg	p.P250L	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.P250L|SLC4A5_uc010ffc.1_Missense_Mutation_p.P250L|SLC4A5_uc002skp.1_Missense_Mutation_p.P186L|SLC4A5_uc002sks.1_Missense_Mutation_p.P250L	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	250						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GTGTAGACTCGGGCCAGCACC	0.587000														48			12		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152383234	152383234	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152383234C>T	uc001ezx.2	-	2	398	c.324G>A	c.(322-324)ggG>ggA	p.G108G		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	108					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCGAGGCCCCAGAGTGGA	0.592000														322			108		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083644	9083644	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9083644G>A	uc002mkp.3	-	0	8375	c.8171C>T	c.(8170-8172)cCt>cTt	p.P2724L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2724	Ser-rich.|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						AGTGGAAGAAGGATGGAGTGG	0.468000														90			28		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717466	222717466	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:222717466G>A	uc001hnh.1	-	1	445	c.387C>T	c.(385-387)ctC>ctT	p.L129L		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	129					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGAGGCCCGGGAGATTCCGGA	0.577000														158			65		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95502186	95502186	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:95502186G>A	uc001tdp.4	-	10	3426	c.3202C>T	c.(3202-3204)Cag>Tag	p.Q1068*	FGD6_uc009zsx.3_Nonsense_Mutation_p.Q201*|FGD6_uc001tdq.1_Nonsense_Mutation_p.Q104*	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	1068					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATAAGTTTCTGAAAGTTGTCC	0.423000														45			11		0	0	1	0	0
BDH1	622	broad.mit.edu	37	3	197273245	197273245	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:197273245C>T	uc003fxr.3	-	2	472	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	BDH1_uc003fxs.3_Missense_Mutation_p.E24K|BDH1_uc003fxu.3_Missense_Mutation_p.E24K	NM_203314	NP_976060	Q02338	BDH_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	24					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	GCTCCATTTTCTCTATCACAG	0.557000														39			43		0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153221832	153221832	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:153221832G>A	uc004fjp.3	-	15	3194	c.2666C>T	c.(2665-2667)aCc>aTc	p.T889I		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	889	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGAGACGGTGCCTGTCAC	0.642000														48			10		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20497945	20497945	+	Missense_Mutation	SNP	G	A	A	rs148142047		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20497945G>A	uc010bwe.3	+	14	1918	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	ACSM2A_uc002dhf.4_Missense_Mutation_p.R560Q|ACSM2A_uc002dhg.4_Missense_Mutation_p.R560Q|ACSM2A_uc010vay.2_Missense_Mutation_p.R481Q|ACSM2A_uc002dhh.4_Missense_Mutation_p.R190Q|AX747287_uc002dhi.1_5'Flank	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	560					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.R560Q(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AAAATTCAACGAGCCAAGCTT	0.473000														180			56		0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4966352	4966352	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:4966352G>A	uc004fqo.3	+	1	1467	c.733G>A	c.(733-735)Gat>Aat	p.D245N	PCDH11Y_uc010nwg.1_Missense_Mutation_p.D234N|PCDH11Y_uc004fql.1_Missense_Mutation_p.D234N|PCDH11Y_uc004fqm.1_Missense_Mutation_p.D234N|PCDH11Y_uc004fqn.1_Missense_Mutation_p.D245N|PCDH11Y_uc004fqp.1_Missense_Mutation_p.D16N	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	245	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGAAGAGAAGGATACCTATGT	0.398000														102			61		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23895187	23895187	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23895187C>T	uc001wjx.3	-	18	2254	c.2148G>A	c.(2146-2148)ggG>ggA	p.G716G		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	716	Myosin head-like.		G -> R (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCGGAAGTCCCCGTAGAGGA	0.607000														51			14		0	0	1	0	0
BC043541	0	broad.mit.edu	37	1	43353119	43353119	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:43353119C>T	uc001cij.1	+	3		c.1021C>T								Homo sapiens cDNA clone IMAGE:5170739.																		GGATGAAGTTCCTGCAGATGG	0.682000														31			7		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168678406	168678406	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:168678406C>T	uc010jjg.3	-	1	675	c.255G>A	c.(253-255)aaG>aaA	p.K85K	SLIT3_uc003mab.3_Silent_p.K85K|SLIT3_uc010jji.2_Silent_p.K85K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	85					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCGGAGGTTCTTGAGCCCAG	0.443000														89			28		0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205632659	205632659	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205632659G>A	uc001hda.1	-	2	599	c.260C>T	c.(259-261)cCc>cTc	p.P87L	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	87					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCAGATGAAGGGCCGGCGGCG	0.662000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									44			19		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57598915	57598915	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57598915C>T	uc001snd.3	+	72	11684	c.11218C>T	c.(11218-11220)Cac>Tac	p.H3740Y		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3740	LDL-receptor class A 31.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCACACCACCCACTGCAAAGA	0.612000														66			23		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43972278	43972278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:43972278C>T	uc003bdy.2	-	25	3633	c.3319G>A	c.(3319-3321)Gac>Aac	p.D1107N	EFCAB6_uc003bdz.2_Missense_Mutation_p.D955N|EFCAB6_uc010gzi.2_Missense_Mutation_p.D955N|EFCAB6_uc010gzj.1_Missense_Mutation_p.D333N	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.T1106M(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TACTGATTGTCCGTTAGTTTG	0.333000														70			28		0	0	1	0	0
TRAV38-2DV8	28643	broad.mit.edu	37	14	22749540	22749540	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22749540G>A	uc010tmr.2	+	1	304	c.258G>A	c.(256-258)gtG>gtA	p.V86V	TCRA_uc001wbw.2_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_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron					SubName: Full=HADV38S2; Flags: Fragment;																		GTTTCTCTGTGAACTTCCAGA	0.468000														38			22		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25281188	25281188	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25281188G>A	uc010aaa.3	+	15	2548	c.2215G>A	c.(2215-2217)Gga>Aga	p.G739R	ATP12A_uc001upp.3_Missense_Mutation_p.G733R	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	733					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GACCGGGGATGGAGTTAATGA	0.557000														46			14		0	0	1	0	0
CIB1	10519	broad.mit.edu	37	15	90775465	90775465	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90775465G>A	uc002bpb.4	-	2	343	c.181C>T	c.(181-183)Ctt>Ttt	p.L61F	GDPGP1_uc002bpc.3_5'Flank	NM_006384	NP_006375	Q99828	CIB1_HUMAN	Homo sapiens calcium and integrin binding 1 (calmyrin) (CIB1), mRNA.	61					apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AGCTCTGGAAGGCTGAGAATC	0.597000														122			29		0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340173	55340173	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55340173C>T	uc010rih.2	+	0	570	c.570C>T	c.(568-570)acC>acT	p.T190T		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T190P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GTTCAGAAACCTATGTGGTTA	0.433000														90			22		0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82507161	82507161	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:82507161G>A	uc002bgt.1	-	14	1816	c.1647C>T	c.(1645-1647)ctC>ctT	p.L549L	EFTUD1_uc002bgu.1_Silent_p.L498L	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	549					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GGACTTGGGGGAGGCCATCTG	0.473000														60			23		0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084467	31084467	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31084467G>A	uc003nsm.2	-	1	981	c.925C>T	c.(925-927)Cca>Tca	p.P309S	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	309	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GTCATGCCTGGAACCAGATAA	0.547000														61			6		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543015	133543015	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:133543015G>A	uc002ttp.3	-	13	1743	c.1369C>T	c.(1369-1371)Ctg>Ttg	p.L457L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	457							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGGCTCCCCAGGTCAGCTGTT	0.473000														45			13		0	0	1	0	0
PROZ	8858	broad.mit.edu	37	13	113814419	113814419	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:113814419G>A	uc001vta.1	+	1	169	c.162G>A	c.(160-162)ttG>ttA	p.L54L	PROZ_uc010agr.1_Silent_p.L76L	NM_003891	NP_003882	P22891	PROZ_HUMAN	Homo sapiens protein Z, vitamin K-dependent plasma glycoprotein (PROZ), transcript variant 2, mRNA.	54	Gla.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	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;0.216)	all cancers(43;0.104)		Menadione(DB00170)	AGGGAAACTTGGAAAAAGAAT	0.463000														167			68		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920657	51920657	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51920657C>T	uc002pwo.3	-	1	322	c.100G>A	c.(100-102)Ggc>Agc	p.G34S	SIGLEC10_uc002pwp.3_Missense_Mutation_p.G34S|SIGLEC10_uc021uyl.1_Missense_Mutation_p.G34S|SIGLEC10_uc002pwq.3_Missense_Mutation_p.G34S|SIGLEC10_uc010ycz.2_Missense_Mutation_p.G34S|SIGLEC10_uc002pws.2_Missense_Mutation_p.G34S|SIGLEC10_uc002pwr.3_Missense_Mutation_p.G34S|SIGLEC10_uc010ycy.2_Missense_Mutation_p.G34S|SIGLEC10_uc010eow.3_Intron|LOC100129083_uc021uym.1_Non-coding_Transcript	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	34	Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ATGCACAGGCCCTCCGGCACC	0.592000														69			22		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18384706	18384706	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:18384706G>A	uc002zng.4	-	4	982	c.629C>T	c.(628-630)cCt>cTt	p.P210L	MICAL3_uc011agl.2_Missense_Mutation_p.P210L|MICAL3_uc002znh.2_Missense_Mutation_p.P210L|MICAL3_uc002znj.1_5'UTR|MICAL3_uc002znk.1_Missense_Mutation_p.P210L|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.3_Missense_Mutation_p.P210L|MICAL3_uc011agm.1_Missense_Mutation_p.P210L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	210						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTCTGACACAGGATGAGTCTT	0.537000														26			13		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61261588	61261588	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61261588G>A	uc010xep.2	+	6	668	c.500_splice	c.e6-1	p.E167_splice	SERPINB13_uc002ljc.3_Splice_Site_p.E158_splice|SERPINB13_uc002ljd.3_Splice_Site_p.E22_splice|SERPINB13_uc010xeq.2_Splice_Site|SERPINB13_uc010xer.2_Splice_Site	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	158					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTCATTTGCAGAAAAAATCAA	0.383000														45			10		0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133339513	133339513	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:133339513C>T	uc010mza.3	+	5	1115	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	ASS1_uc004bzm.3_Missense_Mutation_p.R127W|ASS1_uc004bzn.3_Missense_Mutation_p.R127W	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	127					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGATCAGGTCCGGTTTGAGCT	0.602000														64			10		0	0	1	0	0
ZNF167	55888	broad.mit.edu	37	3	44612310	44612310	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:44612310C>T	uc003cnj.3	+	5	2124	c.1708C>T	c.(1708-1710)Cag>Tag	p.Q570*	ZNF167_uc003cnk.3_Intron|ZNF167_uc010hin.3_Nonsense_Mutation_p.Q570*|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	570					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		TATTCGACATCAGAGCCTCCA	0.438000														101			32		0	0	1	0	0
SPINK4	27290	broad.mit.edu	37	9	33248459	33248459	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:33248459G>A	uc003zsh.3	+	3	262	c.251G>A	c.(250-252)gGc>gAc	p.G84D		NM_014471	NP_055286	O60575	ISK4_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 4 (SPINK4), mRNA.	84	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			ATGAAAGATGGCAAATGCTGA	0.483000														25			13		0	0	1	0	0
SPATA19	219938	broad.mit.edu	37	11	133712390	133712390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:133712390C>T	uc001qgv.1	-	4	478	c.427G>A	c.(427-429)Gtg>Atg	p.V143M		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA.	143					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CTTCGTCTCACCTGCTCTATT	0.532000														93			40		0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135346307	135346307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:135346307C>T	uc001lnj.1	+	4	793	c.760C>T	c.(760-762)Cat>Tat	p.H254Y	CYP2E1_uc001lnk.1_Missense_Mutation_p.H117Y|CYP2E1_uc009ybl.1_Missense_Mutation_p.H55Y|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Missense_Mutation_p.H55Y	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	254					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GAAGGAGCACCATCAATCTCT	0.522000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					93			35		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052304	15052304	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15052304G>A	uc010xoc.2	+	0	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CGGCCCCATGGAAAGAGGAAA	0.468000														146			51		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79572069	79572069	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:79572069G>A	uc001jzk.3	-	20	4162	c.4092C>T	c.(4090-4092)atC>atT	p.I1364I	DLG5_uc001jzi.3_Silent_p.I119I|DLG5_uc001jzj.3_Silent_p.I779I|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1364	PDZ 3.				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)			CTCCACTCACGATGGAGATGC	0.587000														73			18		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61587119	61587119	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61587119G>A	uc010xev.2	+	4	560	c.470G>A	c.(469-471)tGg>tAg	p.W157*	SERPINB2_uc010xew.2_Nonsense_Mutation_p.W157*	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	172					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)	ATCAACTCTTGGGTTGAAAGA	0.393000														77			28		0	0	1	0	0
DUPD1	338599	broad.mit.edu	37	10	76803681	76803681	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:76803681C>T	uc001jwq.1	-	1	295	c.295G>A	c.(295-297)Gac>Aac	p.D99N		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	Homo sapiens dual specificity phosphatase and pro isomerase domain containing 1 (DUPD1), mRNA.	99	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CGGTAGTAGTCGGGCCCAGTG	0.667000														55			31		0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150255959	150255959	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:150255959G>A	uc001euj.3	+	0	731	c.282G>A	c.(280-282)gcG>gcA	p.A94A	C1orf51_uc001euh.3_Silent_p.A94A|C1orf51_uc001eui.3_Silent_p.A6A	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	94										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GATCTGGGGCGAAAAGATCAA	0.527000														118			48		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126134603	126134603	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:126134603G>A	uc004bnx.1	+	8	2676	c.2584G>A	c.(2584-2586)Gtc>Atc	p.V862I	CRB2_uc004bnw.1_Missense_Mutation_p.V862I	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	862						extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GTGTGAGGAGGTCCCTGATGG	0.617000														64			15		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31914886	31914886	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31914886G>A	uc003nyj.4	+	2	679	c.401G>A	c.(400-402)gGt>gAt	p.G134D	CFB_uc011dor.2_Missense_Mutation_p.G636D|CFB_uc011dos.1_3'UTR|CFB_uc003nyi.2_Missense_Mutation_p.G134D	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	134	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGCTATGACGGTTACACTCTC	0.557000														82			33		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139390781	139390781	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139390781G>A	uc004chz.3	-	33	7410	c.7410C>T	c.(7408-7410)tcC>tcT	p.S2470S		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2470					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.L2469fs*11(2)|p.L2469fs*10(2)|p.S2472fs*6(1)|p.P2470S(1)|p.S2471fs*1(1)|p.S2472fs*8(1)|p.L2469fs*9(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGACCAGCGAGGATGGCAGCG	0.697000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				8			5		0	0	1	0	0
ACO1	48	broad.mit.edu	37	9	32405519	32405519	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:32405519C>T	uc003zqw.4	+	1	170	c.15C>T	c.(13-15)ttC>ttT	p.F5F	ACO1_uc010mjh.1_5'UTR|ACO1_uc003zqx.4_Silent_p.F5F|ACO1_uc003zqy.4_Non-coding_Transcript	NM_002197	NP_002188	P21399	ACOC_HUMAN	Homo sapiens aconitase 1, soluble (ACO1), mRNA.	5					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	Golgi apparatus|cytosol|endoplasmic reticulum	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	p.F5F(2)		breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GCAACCCATTCGCACACCTTG	0.398000														55			13		0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68266310	68266310	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:68266310C>T	uc010cfa.1	-	7	1136	c.948G>A	c.(946-948)caG>caA	p.Q316Q	ESRP2_uc002evp.1_Intron|ESRP2_uc002evq.1_Silent_p.Q306Q	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), mRNA.	316	RRM 1.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GCTTGTGTCTCTGCAGCGCTA	0.637000														65			15		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74090859	74090859	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:74090859C>T	uc021ulp.1	-	4	3528	c.3210G>A	c.(3208-3210)gcG>gcA	p.A1070A	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	1070					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGTAGAGGGTCGCAAAGTCCT	0.592000														67			18		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155203214	155203214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:155203214G>A	uc021xge.1	-	21	3206	c.2929C>T	c.(2929-2931)Ctt>Ttt	p.L977F	PLCH1_uc021xgd.1_Missense_Mutation_p.L977F|PLCH1_uc021xgf.1_Missense_Mutation_p.L939F	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	977					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCTCCCAGAAGGTTTCTGTCA	0.468000														103			35		0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46244856	46244856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46244856G>A	uc003cph.1	-	1	1020	c.949C>T	c.(949-951)Cac>Tac	p.H317Y	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Missense_Mutation_p.H317Y	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	317					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACACGCCTGTGGAACAACTGC	0.592000														33			18		0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788484	42788484	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42788484C>T	uc002xli.1	-	1	1816	c.943G>A	c.(943-945)Gag>Aag	p.E315K		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	315					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CACTCGCCCTCGTAGCGGAGG	0.657000														33			20		0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112648300	112648300	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:112648300G>A	uc003dzj.1	-	3	490	c.257C>T	c.(256-258)cCt>cTt	p.P86L	CD200R1_uc003dzk.1_Missense_Mutation_p.P63L|CD200R1_uc011bhx.1_Missense_Mutation_p.P41L|CD200R1_uc003dzl.1_Missense_Mutation_p.P86L|CD200R1_uc003dzm.1_Missense_Mutation_p.P63L	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.	63	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TAATGCGATAGGAGGGCAACA	0.383000														105			23		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43351612	43351612	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:43351612C>T	uc003tid.1	+	3	883	c.278C>T	c.(277-279)tCt>tTt	p.S93F	HECW1_uc011kbi.1_Missense_Mutation_p.S93F|HECW1_uc003tie.1_Missense_Mutation_p.S125F	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	93					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATCGGGCACTCTCAGGACCTG	0.567000														74			26		0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64139971	64139971	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:64139971G>A	uc004dvu.3	-	2	544	c.388C>T	c.(388-390)Ctt>Ttt	p.L130F	ZC4H2_uc004dvv.3_Missense_Mutation_p.L107F|ZC4H2_uc022byd.1_Missense_Mutation_p.L107F|ZC4H2_uc022byc.1_Missense_Mutation_p.L107F|ZC4H2_uc011mow.2_Missense_Mutation_p.L130F|ZC4H2_uc011mov.2_Missense_Mutation_p.L107F|ZC4H2_uc004dvw.2_Missense_Mutation_p.L130F	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	130							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCCAAGGAAAGCTTCTCCTCT	0.522000														25			6		0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15234464	15234464	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:15234464C>T	uc002gon.3	-	2	626	c.439G>A	c.(439-441)Gga>Aga	p.G147R		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.	147					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		ACACGTTCTCCCAGATTTTGG	0.388000														51			30		0	0	1	0	0
OR13J1	392309	broad.mit.edu	37	9	35869520	35869520	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35869520C>T	uc011lph.2	-	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily J, member 1 (OR13J1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CCTCCTTGTTCCTCAGGCTGT	0.592000														42			13		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85434298	85434298	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:85434298C>T	uc001tac.3	+	2	274	c.163C>T	c.(163-165)Cac>Tac	p.H55Y	LRRIQ1_uc001taa.1_Missense_Mutation_p.H55Y|LRRIQ1_uc001tad.3_5'UTR	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	55										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATCAGTTCTTCACTGTATTAA	0.303000														92			23		0	0	1	0	0
AKR7A2	8574	broad.mit.edu	37	1	19632552	19632552	+	Missense_Mutation	SNP	G	A	A	rs79772073		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:19632552G>A	uc001bbw.3	-	5	900	c.878C>T	c.(877-879)tCg>tTg	p.S293L		NM_003689	NP_003680	O43488	ARK72_HUMAN	Homo sapiens aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) (AKR7A2), mRNA.	293					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	p.T292I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGCAGCCGAGGTCACACT	0.632000														74			23		0	0	1	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25160960	25160960	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:25160960G>A	uc001ise.1	-	3	401	c.372C>T	c.(370-372)atC>atT	p.I124I	PRTFDC1_uc010qdd.1_Silent_p.I124I|PRTFDC1_uc009xkm.1_Non-coding_Transcript	NM_020200	NP_064585	Q9NRG1	PRDC1_HUMAN	Homo sapiens phosphoribosyl transferase domain containing 1 (PRTFDC1), mRNA.	124					GMP salvage|IMP salvage|adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|grooming behavior|hypoxanthine metabolic process|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CATCGCCTCCGATTATCTGCA	0.453000														202			90		0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793286	17793286	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17793286C>T	uc009yhc.1	+	1	700	c.645C>T	c.(643-645)ttC>ttT	p.F215F	KCNC1_uc001mnk.4_Silent_p.F215F	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	215						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ACGAGCGCTTCAACCCCATCG	0.567000														84			38		0	0	1	0	0
FFAR1	2864	broad.mit.edu	37	19	35842810	35842810	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35842810G>A	uc002nzc.2	+	0	366	c.356G>A	c.(355-357)aGg>aAg	p.R119K		NM_005303	NP_005294	O14842	FFAR1_HUMAN	Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA.	119					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding	p.R118W(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GCCTTCCGGAGGCCGTGCTAT	0.672000														51			22		0	0	1	0	0
IL26	55801	broad.mit.edu	37	12	68619438	68619438	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:68619438G>T	uc001stx.1	-	0	134	c.99C>A	c.(97-99)taC>taA	p.Y33*		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Homo sapiens interleukin 26 (IL26), mRNA.	33					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of cytokine secretion|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTCCCCTTGGGTAACAACTTT	0.433000														222			23		5.45024e-15	5.4761e-15	1	1	0
SUN1	23353	broad.mit.edu	37	7	892285	892285	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:892285C>T	uc021zym.1	+	7	911	c.891C>T	c.(889-891)atC>atT	p.I297I	GET4_uc003sjj.1_Non-coding_Transcript|SUN1_uc011jvq.2_Silent_p.I195I|SUN1_uc003sjf.3_Silent_p.I214I|SUN1_uc003sjg.3_Silent_p.I202I|SUN1_uc011jvr.2_Silent_p.I106I|SUN1_uc003sji.3_Silent_p.I135I|SUN1_uc003sjk.3_5'UTR	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA.	324	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear inner membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTTGCTCATCCCACTCTTCC	0.418000														149			44		0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32585567	32585567	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:32585567C>T	uc003xiv.2	+	5	1120	c.603C>T	c.(601-603)gaC>gaT	p.D201D	NRG1_uc022ats.1_Silent_p.D146D|NRG1_uc003xip.3_Silent_p.D382D|NRG1_uc003xir.3_Silent_p.D201D|NRG1_uc010lvl.3_Silent_p.D184D|NRG1_uc010lvm.3_Silent_p.D167D|NRG1_uc010lvn.3_Silent_p.D167D|NRG1_uc003xis.3_Silent_p.D201D|NRG1_uc011lbf.1_Silent_p.D201D|NRG1_uc010lvo.2_Silent_p.D201D|NRG1_uc003xiu.2_Silent_p.D201D|NRG1_uc003xiw.2_Silent_p.D201D|NRG1_uc003xit.2_Silent_p.D201D|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Silent_p.D150D|NRG1_uc010lvq.2_Silent_p.D126D|NRG1_uc003xix.3_Silent_p.D91D|NRG1_uc003xiy.3_Silent_p.D256D|NRG1_uc011lbg.1_Silent_p.D47D|NRG1_uc011lbh.1_Silent_p.D47D|NRG1_uc003xiz.1_Non-coding_Transcript|NRG1_uc003xja.2_Silent_p.D4D	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	201	EGF-like.				Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TGGTGAAAGACCTTTCAAACC	0.423000														92			25		0	0	1	0	0
EVX2	344191	broad.mit.edu	37	2	176946947	176946947	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:176946947C>T	uc010zeu.2	-	1	844	c.658G>A	c.(658-660)Gag>Aag	p.E220K		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GCGGCCAGCTCGCACCGGCGG	0.632000														25			8		0	0	1	0	0
RGS1	5996	broad.mit.edu	37	1	192545481	192545481	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:192545481C>T	uc001gsi.1	+	1	270	c.204C>T	c.(202-204)tcC>tcT	p.S68S	RGS1_uc010pou.1_Silent_p.S68S	NM_002922	NP_002913	Q08116	RGS1_HUMAN	Homo sapiens regulator of G-protein signaling 1 (RGS1), mRNA.	68					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TGAAATCTTCCAAGTCCAAGG	0.343000														50			19		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77415255	77415255	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77415255G>A	uc004ajl.1	-	16	2391	c.2153C>T	c.(2152-2154)cCc>cTc	p.P718L	TRPM6_uc004ajk.1_Missense_Mutation_p.P713L|TRPM6_uc022bib.1_Missense_Mutation_p.P713L|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	718					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGAAACAAAGGGTCGTAATCC	0.463000														56			16		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48286023	48286023	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:48286023T>A	uc010rht.2	+	0	611	c.611T>A	c.(610-612)aTc>aAc	p.I204N		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GGCGGCTCCATCTCCGTAGTC	0.552000														32			20		0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56977725	56977725	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:56977725G>A	uc001cyj.2	-	4	1301	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	245					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TCTGATACGCGAGACAGTCCC	0.572000														53			13		0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141315179	141315179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:141315179C>T	uc011chi.2	-	11	1384	c.1166G>A	c.(1165-1167)cGa>cAa	p.R389Q	CLGN_uc003iii.3_Missense_Mutation_p.R389Q	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	389					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					AGGAATTTTTCGAGGACTCCA	0.343000														47			18		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154624199	154624199	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:154624199C>T	uc003inq.3	+	2	359	c.140C>T	c.(139-141)cCc>cTc	p.P47L	TLR2_uc003inr.3_Missense_Mutation_p.P47L|TLR2_uc003ins.3_Missense_Mutation_p.P47L|TLR2_uc021xtl.1_Missense_Mutation_p.P47L	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	47					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	p.P47S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				AACTCCATTCCCTCAGGGCTC	0.493000														24			15		0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51754555	51754555	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:51754555C>T	uc001csl.3	-	16	1779	c.1674G>A	c.(1672-1674)gaG>gaA	p.E558E	TTC39A_uc001csk.3_Silent_p.E523E|TTC39A_uc010ond.2_Silent_p.E495E|TTC39A_uc010one.2_Silent_p.E522E|TTC39A_uc010onf.2_Silent_p.E526E|TTC39A_uc001csj.3_Silent_p.E159E	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	558							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TTCTGTCTTGCTCCATAAGCA	0.493000														11			8		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169127034	169127034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:169127034G>A	uc003maf.3	+	12	1229	c.1149G>A	c.(1147-1149)atG>atA	p.M383I	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjl.1_5'Flank	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	383					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			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)			GGGTGACCATGAAGATGCTGG	0.582000														177			46		0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30366743	30366743	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30366743G>A	uc002wwp.1	+	9	1708	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	TPX2_uc010gdv.1_Missense_Mutation_p.R337Q	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	337					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TTCCATAAACGAACCCCTAAC	0.413000														94			44		0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	26994270	26994270	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:26994270C>T	uc001isv.3	+	3	329	c.283C>T	c.(283-285)Cct>Tct	p.P95S	PDSS1_uc001isw.3_Missense_Mutation_p.P95S	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 1 (PDSS1), mRNA.	95					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						ATACACCGATCCTTTCAAACT	0.383000														39			17		0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39122681	39122681	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39122681T>A	uc002hvo.1	-	0	464	c.428A>T	c.(427-429)tAc>tTc	p.Y143F	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	143	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GTAAGACAGGTAATCAGGACA	0.413000														74			46		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51258589	51258589	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:51258589C>T	uc003tps.3	-	3	828	c.643G>A	c.(643-645)Gag>Aag	p.E215K	COBL_uc003tpr.4_Missense_Mutation_p.E215K|COBL_uc011kcl.2_Missense_Mutation_p.E215K|COBL_uc010kzc.3_Missense_Mutation_p.E215K|COBL_uc003tpt.3_Missense_Mutation_p.E215K|COBL_uc003tpp.4_5'UTR|COBL_uc003tpq.4_Missense_Mutation_p.E131K	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	215								p.N214N(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ATCCCGAGCTCGTTCAGGGAC	0.592000														35			8		0	0	1	0	0
OR10V1	390201	broad.mit.edu	37	11	59480873	59480873	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59480873G>A	uc001nof.1	-	0	446	c.446C>T	c.(445-447)tCc>tTc	p.S149F		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily V, member 1 (OR10V1), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						CAGCACCAAGGAGCCTACCAG	0.498000														29			13		0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103343261	103343261	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:103343261C>T	uc001vpj.3	-	1	190	c.184G>A	c.(184-186)Gat>Aat	p.D62N		NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	Homo sapiens methyltransferase like 21C (METTL21C), mRNA.	62							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						CTGGCGTAATCTGTAGGAACA	0.438000														104			8		0	0	1	0	0
RNASE9	390443	broad.mit.edu	37	14	21024852	21024852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21024852C>T	uc010ahp.3	-	4	647	c.392G>A	c.(391-393)gGa>gAa	p.G131E	RNASE9_uc010aho.3_Missense_Mutation_p.G126E|RNASE9_uc001vxq.4_Missense_Mutation_p.G131E|RNASE9_uc010ahq.3_Missense_Mutation_p.G131E|RNASE9_uc010ahr.3_Missense_Mutation_p.G131E|RNASE9_uc010ahs.3_Missense_Mutation_p.G126E|RNASE9_uc010aht.3_Missense_Mutation_p.G126E|RNASE9_uc010ahu.3_Missense_Mutation_p.G126E|RNASE9_uc021rnt.1_Missense_Mutation_p.G126E	NM_001110359	NP_001103827	P60153	RNAS9_HUMAN	Homo sapiens ribonuclease, RNase A family, 9 (non-active) (RNASE9), transcript variant 1, mRNA.	126						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TTTCCTAATTCCATTCTTACA	0.363000														39			16		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716045	13716045	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:13716045G>A	uc001rbt.2	-	12	4306	c.4127C>T	c.(4126-4128)tCg>tTg	p.S1376L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1376					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGGTAGAGCGACTTGCTGAG	0.587000														31			11		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207644806	207644806	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207644806G>A	uc001hfw.3	+	8	1651	c.1532G>A	c.(1531-1533)gGc>gAc	p.G511D	CR2_uc001hfv.3_Missense_Mutation_p.G511D|CR2_uc009xch.3_Missense_Mutation_p.G511D|CR2_uc009xci.1_Intron	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	511	Sushi 8.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAGTGTCAAGGCACAATTCCT	0.403000														147			55		0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64331852	64331852	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64331852G>A	uc001oai.3	+	4	1268	c.894G>A	c.(892-894)aaG>aaA	p.K298K	SLC22A11_uc001oah.1_Intron|SLC22A11_uc009ypq.3_Silent_p.K298K|SLC22A11_uc001oak.1_Silent_p.K127K	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	298					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	AGCTCAGAAAGGTGGCCAGGA	0.562000														49			20		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161015120	161015120	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:161015120C>T	uc003qtl.3	-	22	3619	c.3499G>A	c.(3499-3501)Gat>Aat	p.D1167N		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3675	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGTAGCAATCCTGGACCCCG	0.478000														69			43		0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6432347	6432347	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6432347G>A	uc001mdb.1	-	1	331	c.231C>T	c.(229-231)ctC>ctT	p.L77L	APBB1_uc001mdc.1_Silent_p.L77L|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	77					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CGGCCCGCCGGAGCTGGTTCT	0.677000														131			36		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17007100	17007100	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17007100C>T	uc002nfb.3	-	40	5486	c.5454G>A	c.(5452-5454)ggG>ggA	p.G1818G	CPAMD8_uc010xpj.1_5'UTR|CPAMD8_uc002nfd.1_Silent_p.G283G	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1771						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCAGGTCATCCCCGTAGGTGG	0.692000														22			11		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156810752	156810752	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156810752C>T	uc010pht.2	-	21	4106	c.3807G>A	c.(3805-3807)cgG>cgA	p.R1269R	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1269					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCAGGGAGCCCCGGGCCCCCC	0.627000														20			7		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31907063	31907063	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31907063C>T	uc011dor.2	+	5	990	c.726C>T	c.(724-726)atC>atT	p.I242I	CFB_uc003nyc.2_Silent_p.I182I|CFB_uc011doo.2_Silent_p.I149I|CFB_uc011dop.2_Silent_p.I181I|CFB_uc003nyf.3_Silent_p.I395I|CFB_uc010jtk.3_Silent_p.I263I|CFB_uc011doq.2_Silent_p.I366I|CFB_uc003nyh.2_Silent_p.I46I	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	408			I -> L (in AHUS4).		complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCAGAGAGATCCTGAACATCA	0.463000														131			9		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38877379	38877379	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38877379G>A	uc021yzh.1	+	64	9708	c.9599G>A	c.(9598-9600)aGg>aAg	p.R3200K	DNAH8_uc003ooe.2_Missense_Mutation_p.R2983K|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGCTGGCCAAGGGAGGCTCTG	0.448000														117			11		0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3811344	3811344	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3811344C>T	uc002lyw.2	-	14	2275	c.2263G>A	c.(2263-2265)Gat>Aat	p.D755N		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	755						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCACCTGCATCAGCCTGAGGC	0.642000														7			4		0	0	1	0	0
SPAG4	6676	broad.mit.edu	37	20	34206880	34206880	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34206880G>A	uc002xdb.1	+	7	870	c.753G>A	c.(751-753)gaG>gaA	p.E251E	SPAG4_uc010zvi.1_Silent_p.E174E	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	Homo sapiens sperm associated antigen 4 (SPAG4), mRNA.	251					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GGCTGAATGAGGATTTTGTGC	0.592000														50			18		0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	839621	839621	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:839621C>T	uc002ckf.4	+	2	659	c.596C>T	c.(595-597)cCc>cTc	p.P199L	RPUSD1_uc002cka.3_5'Flank|RPUSD1_uc002ckb.3_5'Flank|CHTF18_uc010uus.1_Missense_Mutation_p.P171L|CHTF18_uc010bre.1_Non-coding_Transcript|CHTF18_uc002cke.4_Missense_Mutation_p.P171L|CHTF18_uc010brf.3_5'UTR|CHTF18_uc002ckg.4_5'UTR	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.	171					DNA replication|cell cycle	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CTGAGGCGGCCCCCCATCTTG	0.677000														54			22		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119737566	119737566	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:119737566G>A	uc004bjt.2	-	8	1758	c.1657C>T	c.(1657-1659)Ccg>Tcg	p.P553S	ASTN2_uc022bml.1_Missense_Mutation_p.P249S|ASTN2_uc022bmm.1_Missense_Mutation_p.P253S	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	604						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCCACAGGCGGAACCACAAAG	0.552000														65			9		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087396	92087396	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92087396G>A	uc001pdj.4	+	0	2135	c.2118G>A	c.(2116-2118)ctG>ctA	p.L706L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	706					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGGGAAACTGAATCTGGAAG	0.403000										TCGA Ovarian(4;0.039)				114			34		0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220307845	220307845	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:220307845C>T	uc001hmc.3	+	14	2043	c.1939C>T	c.(1939-1941)Cct>Tct	p.P647S		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	647				P -> L (in Ref. 6; BAB14164).	isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GAAGAGAGCACCTTATAAGTA	0.458000														75			20		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21217225	21217225	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21217225G>A	uc003zor.1	-	0	86	c.80C>T	c.(79-81)cCt>cTt	p.P27L	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	27					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GTGAGTCTGAGGCAGATCACA	0.488000														113			30		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26868297	26868297	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:26868297G>A	uc001rhg.3	-	7	1207	c.790C>T	c.(790-792)Ctt>Ttt	p.L264F		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	264	MIR 3.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTCGTACGAAGGAAAATGTGC	0.373000														133			28		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59166535	59166535	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:59166535G>A	uc010dps.1	+	1	515	c.363G>A	c.(361-363)agG>agA	p.R121R	CDH20_uc002lif.2_Silent_p.R115R	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	121	Cadherin 1.				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)				CCATTCAGAGGCTCGACCGAG	0.552000														20			13		0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538663	4538663	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4538663G>A	uc002mau.3	-	1	344	c.333C>T	c.(331-333)ttC>ttT	p.F111F	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	111						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCCGCAGGAATTCGGGCG	0.652000														43			13		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37262227	37262227	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:37262227C>T	uc022abv.1	-	9	1483	c.773G>A	c.(772-774)aGg>aAg	p.R258K	ELMO1_uc011kbc.2_Missense_Mutation_p.R162K|ELMO1_uc003tfk.2_Missense_Mutation_p.R258K|ELMO1_uc010kxg.2_Missense_Mutation_p.R258K	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	258					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TACCTGCCTCCTCTCATCAGG	0.428000														79			19		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19713778	19713778	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:19713778G>A	uc002ykw.3	-	12	1547	c.1516C>T	c.(1516-1518)Ctt>Ttt	p.L506F		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	506					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.L506I(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCTGGATAAAGACTCCCATTG	0.383000														101			37		0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863470	55863470	+	Silent	SNP	G	A	A	rs147384913		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55863470G>A	uc010spn.2	-	0	453	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F151F(2)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						AAATGATCAGGAATCCAGTTA	0.368000														60			24		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87179256	87179256	+	Missense_Mutation	SNP	G	A	A	rs142600685	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87179256G>A	uc003uiz.2	-	13	1958	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	ABCB1_uc011khc.2_Missense_Mutation_p.R425C	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	489	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)	CGGCCATAGCGAATGTTTTCA	0.428000														225			29		0	0	1	0	0
HBM	3042	broad.mit.edu	37	16	216426	216426	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:216426G>A	uc002cfu.1	+	1	276	c.252G>A	c.(250-252)gcG>gcA	p.A84A		NM_001003938	NP_001003938	Q6B0K9	HBM_HUMAN	Homo sapiens hemoglobin, mu (HBM), mRNA.	84						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GCCCGCTGGCGGACCTGCACG	0.746000														7			4		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55145099	55145099	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55145099G>A	uc010ooe.1	+	11	2537	c.2213G>A	c.(2212-2214)aGg>aAg	p.R738K	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.R306K|HEATR8_uc010ood.1_Missense_Mutation_p.R256K|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.R738K|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	738						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						TACCGCCACAGGGCGCTGGAG	0.657000														40			11		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288529	77288529	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77288529C>T	uc003hkb.4	-	10	1901	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	583								p.R583Q(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCCAGCAGTTCGTCCATGCTG	0.458000														76			33		0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076588	87076588	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:87076588C>T	uc011lfy.2	-	1	458	c.458G>A	c.(457-459)gGa>gAa	p.G153E		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	153	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.G153*(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TGTAAAGGATCCCTGAGCAAT	0.488000														61			17		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113538213	113538213	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113538213C>T	uc022blv.1	+	9	1464	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.P363S|MUSK_uc022blu.1_Missense_Mutation_p.P353S	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	444	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GCATTGGGACCCCACGGCCTG	0.488000														210			14		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575346	136575346	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136575346C>T	uc002tuu.1	-	5	1283	c.1272G>A	c.(1270-1272)gcG>gcA	p.A424A		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	424	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.A424E(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCTCCAGCGTCGCTTGGCCCT	0.632000														93			30		0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020463	56020463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56020463G>A	uc010rjd.2	+	0	788	c.788G>A	c.(787-789)gGa>gAa	p.G263E		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G263R(1)|p.K262N(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TCTGCTAAGGGAAGGCAAAAG	0.408000														168			65		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14106581	14106581	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:14106581C>T	uc001avi.3	+	7	3147	c.2291C>T	c.(2290-2292)aCc>aTc	p.T764I	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.T764I|PRDM2_uc021ogk.1_Missense_Mutation_p.T527I|PRDM2_uc001avk.3_Missense_Mutation_p.T563I|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	764						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCAGCATGGACCGATGCCGGG	0.517000														116			12		0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3386026	3386026	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3386026C>T	uc001akg.4	+	5	1139	c.891C>T	c.(889-891)ttC>ttT	p.F297F	ARHGEF16_uc001aki.3_Silent_p.F9F|ARHGEF16_uc001akj.3_Silent_p.F9F|ARHGEF16_uc009vli.1_5'Flank|ARHGEF16_uc010nzh.2_5'Flank	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	297	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGTCGGAGTTCTCCTACCAGC	0.627000														63			18		0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78084749	78084749	+	Missense_Mutation	SNP	G	A	A	rs121907937		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:78084749G>A	uc002jxp.3	+	10	1928	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	GAA_uc002jxo.3_Missense_Mutation_p.E521K|GAA_uc002jxq.3_Missense_Mutation_p.E521K	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	521			E -> K (in GSD2; severe).		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GGACATGAACGAGCCTTCCAA	0.632000														59			7		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313535	54313535	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54313535C>T	uc002qcj.4	-	2	1598	c.1378G>A	c.(1378-1380)Ggg>Agg	p.G460R	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.G460R|NLRP12_uc002qci.4_Missense_Mutation_p.G460R|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G460R	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	460	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAGCACAACCCTCTCTGGTTG	0.617000														79			38		0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60711204	60711204	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60711204G>A	uc001nqn.2	-	2	1187	c.953C>T	c.(952-954)cCc>cTc	p.P318L	SLC15A3_uc001nqo.2_Missense_Mutation_p.P318L	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	318					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CACCATGACGGGCAAGATCTT	0.612000														18			6		0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133911710	133911710	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:133911710G>A	uc004caa.1	+	3	1065	c.967G>A	c.(967-969)Gag>Aag	p.E323K		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	323	Laminin EGF-like 1.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGCTGCCCACGAGTGTCTGCG	0.677000														43			14		0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38051357	38051357	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38051357C>T	uc003ati.3	+	17	2510	c.1772C>T	c.(1771-1773)cCc>cTc	p.P591L	SH3BP1_uc003atg.1_Intron|SH3BP1_uc003ath.1_Intron|SH3BP1_uc003atj.1_Intron|SH3BP1_uc003atk.1_Intron|AK097791_uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	591					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCAGCCCCGCCCTTGCCCCCT	0.741000														8			6		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41066305	41066305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41066305C>T	uc002ony.3	+	26	5997	c.5911C>T	c.(5911-5913)Ccc>Tcc	p.P1971S	SPTBN4_uc002onx.3_Missense_Mutation_p.P1971S|SPTBN4_uc002onz.3_Missense_Mutation_p.P1971S|SPTBN4_uc010egx.3_Missense_Mutation_p.P714S|SPTBN4_uc002ooa.3_Missense_Mutation_p.P647S	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1971					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCCGACAAGCCCAGGTGCCC	0.657000														45			36		0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98351872	98351872	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:98351872G>A	uc002syd.1	+	9	1449	c.1242G>A	c.(1240-1242)atG>atA	p.M414I	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.M304I|ZAP70_uc002syf.1_Missense_Mutation_p.M107I	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	414	Protein kinase.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TGCTGGTCATGGAGATGGCTG	0.677000														152			25		0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31611188	31611188	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31611188G>A	uc002wyj.3	+	15	1570	c.1376G>A	c.(1375-1377)tGa>tAa	p.*459*		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	0						extracellular region	lipid binding										TACCAGAGCTGAGGCAAGACC	0.567000														58			9		0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155004051	155004051	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155004051G>A	uc001fgm.3	-	4	819	c.739_splice	c.e4+1	p.L247_splice	DCST2_uc009wpb.3_Splice_Site|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	247						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTTTCTCACGGCTGGCAAGTC	0.602000														59			26		0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987943	50987944	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50987943_50987944GG>AA	uc003bmi.3	+	0	1482_1483	c.1348_1349GG>AA	c.(1348-1350)ggg>AAg	p.G450K		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	Homo sapiens kelch domain containing 7B (KLHDC7B), mRNA.	450										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCCTGCCGTGGGGACATCTAC	0.673000														77			32		0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31466345	31466345	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:31466345G>A	uc003jhg.2	-	17	2769	c.2410C>T	c.(2410-2412)Cta>Tta	p.L804L	DROSHA_uc003jhh.2_Silent_p.L767L|DROSHA_uc003jhi.2_Silent_p.L767L	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	804	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CTATTTGCTAGGAGGTGGCGA	0.428000														89			19		0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26689615	26689615	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26689615G>A	uc001bmg.1	-	4	1163	c.1045C>T	c.(1045-1047)Cca>Tca	p.P349S	ZNF683_uc001bmh.1_Missense_Mutation_p.P349S|ZNF683_uc009vsj.1_Missense_Mutation_p.P349S	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CACTGGAATGGACGCTCTCCA	0.602000														15			5		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135015029	135015029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:135015029G>A	uc001llz.1	+	16	3015	c.3014G>A	c.(3013-3015)aGg>aAg	p.R1005K	KNDC1_uc001lma.1_Missense_Mutation_p.R940K|KNDC1_uc001lmb.1_Missense_Mutation_p.R417K	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1005					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCCATGGCCAGGACCAGCAGC	0.627000														110			49		0	0	1	0	0
TRBV19	28568	broad.mit.edu	37	7	142326879	142326879	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142326879G>A	uc003vzo.2	+	1	372	c.177G>A	c.(175-177)ggG>ggA	p.G59G	TRBV5-1_uc011krr.1_Intron|TRBV19_uc022anp.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGGACCCAGGGCAAGGGCTGA	0.473000														136			44		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33891923	33891923	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:33891923G>A	uc003jia.1	-	0	202	c.39C>T	c.(37-39)tcC>tcT	p.S13S	ADAMTS12_uc010iuq.1_Silent_p.S13S|ADAMTS12_uc003jib.1_Silent_p.S13S	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	13					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L12F(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAGCCACCACGGAAAGGTTTG	0.522000										HNSCC(64;0.19)				97			52		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860953	16860953	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16860953C>T	uc002neu.4	+	5	1922	c.1500C>T	c.(1498-1500)ggC>ggT	p.G500G	NWD1_uc002net.4_Silent_p.G365G|NWD1_uc002nev.4_Silent_p.G294G|NWD1_uc021uqg.1_Silent_p.G365G	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	500	NACHT.						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						GAAACCAAGGCCAGCAGATGA	0.637000														83			9		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168838897	168838897	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:168838897G>A	uc011bpj.1	-	6	1482	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	MECOM_uc010hwk.1_Missense_Mutation_p.S195L|MECOM_uc003ffj.3_Missense_Mutation_p.S237L|MECOM_uc003ffi.3_Missense_Mutation_p.S172L|MECOM_uc011bpi.1_Missense_Mutation_p.S173L|MECOM_uc003ffn.3_Missense_Mutation_p.S172L|MECOM_uc003ffk.2_Missense_Mutation_p.S172L|MECOM_uc003ffl.2_Missense_Mutation_p.S332L|MECOM_uc011bpk.1_Missense_Mutation_p.S172L|MECOM_uc010hwn.2_Missense_Mutation_p.S360L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.S172L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAGGCCCGACGAAGTGGCAAA	0.552000														59			13		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212638	26212638	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:26212638C>T	uc022buc.1	+	0	675	c.675C>T	c.(673-675)gtC>gtT	p.V225V	MAGEB6_uc004dbr.3_Silent_p.V225V	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	225	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGAAGTGTGTCCGCAGAGAGT	0.478000														22			33		0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157186322	157186322	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:157186322G>A	uc002tyz.4	-	2	799	c.377C>T	c.(376-378)tCg>tTg	p.S126L	NR4A2_uc021vri.1_Missense_Mutation_p.S126L|NR4A2_uc002tyx.4_Missense_Mutation_p.S63L|NR4A2_uc010zcf.2_Missense_Mutation_p.S126L|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	126	Gln-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CGTCGGGGGCGAGGAGGGCTT	0.622000														85			50		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206050515	206050515	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:206050515C>T	uc002var.2	+	13	2159	c.1952C>T	c.(1951-1953)gCc>gTc	p.A651V	PARD3B_uc010fub.2_Missense_Mutation_p.A651V|PARD3B_uc002vao.2_Missense_Mutation_p.A651V|PARD3B_uc002vap.2_Missense_Mutation_p.A589V|PARD3B_uc002vaq.2_Missense_Mutation_p.A651V	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	651					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GACGGATGGGCCGAGAGTGAA	0.438000														94			40		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537328	55537328	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55537328C>T	uc003xsd.1	+	3	1034	c.886C>T	c.(886-888)Cct>Tct	p.P296S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	296					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCTTTTGTTCCTGAAAAGTA	0.318000														55			17		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114278641	114278641	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:114278641C>T	uc003ibe.4	+	37	8967	c.8867C>T	c.(8866-8868)tCt>tTt	p.S2956F	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S2971F	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2923					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGTTTTCACTCTTCTGAAGTG	0.393000														245			56		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39432079	39432079	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:39432079C>T	uc001uwv.3	+	12	7433	c.7124C>T	c.(7123-7125)cCt>cTt	p.P2375L	FREM2_uc001uww.3_Missense_Mutation_p.P461L	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2375					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.P2375S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCTTCTGTCCCTCAAATTGTA	0.428000														131			30		0	0	1	0	0
HORMAD2	150280	broad.mit.edu	37	22	30489904	30489904	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:30489904G>A	uc003agy.3	+	2	29	c.-36_splice	c.e2-1			NM_152510	NP_689723	Q8N7B1	HORM2_HUMAN	Homo sapiens HORMA domain containing 2 (HORMAD2), mRNA.						meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			ttttttaataGGTTGGACTTG	0.338000														10			8		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036318	71036318	+	Silent	SNP	C	T	T	rs144325682		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:71036318C>T	uc003tvy.3	+	5	1011	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	WBSCR17_uc003tvz.3_Silent_p.F36F	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	337	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGAAGTTCTTCGGTGAAATTG	0.507000														87			29		0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18258340	18258341	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:18258340_18258341GG>AA	uc022asl.1	+	0	827_828	c.827_828GG>AA	c.(826-828)ggg>gAA	p.G276E	NAT2_uc003wyw.1_Missense_Mutation_p.G276E	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	276					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		ATTTCCTTGGGGAGAAATCTCG	0.356000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					56			21		0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95683710	95683710	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:95683710C>T	uc003ygq.4	+	10	1446	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	ESRP1_uc003ygr.4_Silent_p.L421L|ESRP1_uc003ygs.4_Silent_p.L421L|ESRP1_uc003ygt.4_Silent_p.L421L|ESRP1_uc003ygu.4_Silent_p.L421L|ESRP1_uc003ygv.3_Silent_p.L261L|ESRP1_uc003ygw.3_Silent_p.L261L	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	421					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CGGCCCCTCTCATTCCACTTC	0.483000														82			16		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241976665	241976665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241976665G>A	uc002wah.1	+	5	940	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	314	EGF-like 2.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AGACGTGAACGAATGTGCCTC	0.627000														12			6		0	0	1	0	0
SIAH3	283514	broad.mit.edu	37	13	46358047	46358047	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:46358047T>A	uc001vap.3	-	1	363	c.281A>T	c.(280-282)gAg>gTg	p.E94V		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA.	94	His-rich.				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CAGCCCCGCCTCCtggtggtg	0.692000														36			17		0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18856637	18856637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18856637C>T	uc010ebv.3	+	3	384	c.296C>T	c.(295-297)cCc>cTc	p.P99L	CRTC1_uc002nkb.4_Missense_Mutation_p.P83L|CRTC1_uc010ebw.3_5'Flank	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	83					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CCCCAGACCCCCTTCCAATCC	0.662000														149			34		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16256617	16256617	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16256617C>T	uc001axk.1	+	10	4086	c.3882C>T	c.(3880-3882)gtC>gtT	p.V1294V	SPEN_uc010obp.1_Silent_p.V1253V	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1294					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)		ATGAAAAAGTCCTCCCCTATT	0.428000														90			34		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110829374	110829374	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:110829374G>A	uc001vqw.4	-	33	2849	c.2727C>T	c.(2725-2727)ggC>ggT	p.G909G		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	909	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGCCCGGAAAGCCATGGTCCC	0.592000														49			18		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134920412	134920414	+	Missense_Mutation	DNP	CG	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:134920412_134920414CG>TA	uc003eqt.3	+	11	2602_2604	c.2227_2229CG>TA	c.(2227-2229)cgg>TA	p.R743del	EPHB1_uc003equ.3_Missense_Mutation_p.R304del	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	743	Protein kinase.		R -> Q (in a gastric adenocarcinoma sample; somatic mutation).			integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R743W(3)|p.R743Q(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTATGTGCATCGGGACCTGGCTG	0.547000														182			40		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84585980	84585980	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:84585980C>T	uc004eer.2	-	6	975	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	POF1B_uc004ees.3_Missense_Mutation_p.E277K	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	277							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TGCAAATGTTCTAATAAGCAG	0.363000														23			19		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106153205	106153205	+	Missense_Mutation	SNP	G	A	A	rs61732088	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106153205G>A	uc001kyh.3	+	10	1780	c.1646G>A	c.(1645-1647)cGa>cAa	p.R549Q		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	549								p.R549Q(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAACAGCAGCGAATAGAAAAG	0.453000														33			14		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548670	20548670	+	Silent	SNP	C	T	T	rs71811918		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20548670C>T	uc002dhj.4	-	14	1854	c.1644G>A	c.(1642-1644)ttG>ttA	p.L548L	ACSM2B_uc002dhk.4_Silent_p.L548L	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	548					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGGGCAGGTTCAAGACAAACT	0.493000														162			85		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6759299	6759299	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:6759299C>T	uc002wmu.1	+	2	1539	c.754C>T	c.(754-756)Caa>Taa	p.Q252*		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	252					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	GTCTTTGCACCAAGATGAACA	0.483000														31			10		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081480	152081480	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152081480C>T	uc009wne.1	-	2	4485	c.4213G>A	c.(4213-4215)Gag>Aag	p.E1405K	TCHH_uc001ezp.2_Missense_Mutation_p.E1405K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1405	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.R1404R(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGTTGCTCGCGCTCCTGG	0.577000														135			46		0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53586454	53586454	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:53586454G>A	uc003xre.4	-	6	1511	c.953C>T	c.(952-954)cCt>cTt	p.P318L	RB1CC1_uc003xrf.4_Missense_Mutation_p.P318L	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	318					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CACATCATTAGGTCTATCTTG	0.338000														55			14		0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120922487	120922487	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:120922487G>A	uc002tmg.3	+	22	2153	c.1962_splice	c.e22+1	p.Q654_splice	EPB41L5_uc010fll.3_Splice_Site_p.Q654_splice|EPB41L5_uc010flm.3_Splice_Site_p.Q458_splice	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	654						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TGCACCTCAGGTAAATATGCT	0.328000														67			25		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436263	248436263	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248436263G>A	uc010pzi.2	-	0	854	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P285L(2)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			GTAGATGAGGGGGTTTAGTAA	0.478000														232			47		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19770234	19770234	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:19770234C>T	uc002ykw.3	-	2	337	c.306G>A	c.(304-306)ctG>ctA	p.L102L		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	102	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATTCATTCTTCAGATTGCTTG	0.239000														22			5		0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4841445	4841445	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:4841445G>A	uc003snj.1	-	11	2854	c.2681C>T	c.(2680-2682)cCc>cTc	p.P894L	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_Missense_Mutation_p.P399L|RADIL_uc011jwc.1_Missense_Mutation_p.P654L|RADIL_uc011jwd.1_Non-coding_Transcript|RADIL_uc003snh.1_Missense_Mutation_p.P190L	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	894	Pro-rich.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGTGTGCGGGGGGCCAGCCTG	0.726000														14			12		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3712680	3712680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:3712680G>A	uc001lyh.3	-	27	4772	c.4351C>T	c.(4351-4353)Cct>Tct	p.P1451S	NUP98_uc001lyi.3_Missense_Mutation_p.P1451S|NUP98_uc001lyg.3_Missense_Mutation_p.P416S	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1468					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity	p.P1451S(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGATACGAAGGAAGTGGGGAG	0.428000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									57			11		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10089688	10089688	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10089688C>T	uc003buw.3	+	15	1444	c.1366C>T	c.(1366-1368)Ctc>Ttc	p.L456F	FANCD2_uc003bux.1_Missense_Mutation_p.L456F|FANCD2_uc003buy.1_Missense_Mutation_p.L456F|FANCD2_uc010hcw.1_5'Flank	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	456			L -> R (in dbSNP:rs35782247).		DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATTTGGCAGTCTCCTATACAA	0.393000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					225			14		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55281307	55281307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55281307C>T	uc010erz.1	+	0	43	c.5C>T	c.(4-6)tCg>tTg	p.S2L	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Missense_Mutation_p.S2L	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	2					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AGCACCATGTCGCTCTTGGTC	0.587000											OREG0003674	type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		89			24		0	0	1	0	0
DUSP5P	574029	broad.mit.edu	37	1	228786332	228786332	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228786332C>T	uc001htd.2	+	1	908	c.447C>T	c.(445-447)gcC>gcT	p.A149A	RHOU_uc021pkj.1_Intron					Homo sapiens dual specificity phosphatase 5 pseudogene (DUSP5P), non-coding RNA.																		GCCTGCCTGCCCTCCTGCTGG	0.587000														0			2		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595213	55595213	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55595213G>A	uc001nhy.1	+	0	519	c.519G>A	c.(517-519)gtG>gtA	p.V173V		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V173V(2)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GATCTAATGTGATTAACCACT	0.478000										HNSCC(27;0.073)				227			78		0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340191	55340191	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55340191C>T	uc010rih.2	+	0	588	c.588C>T	c.(586-588)ctC>ctT	p.L196L		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTAACCTACTCCTGGTTTCCA	0.443000														72			33		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176210	57176210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57176210G>A	uc010ygn.2	-	1	584	c.357C>T	c.(355-357)ttC>ttT	p.F119F		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.									p.S119S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AACAGTAGCTGAAGGCCTTCC	0.632000														123			12		0	0	1	0	0
SPRR2D	6703	broad.mit.edu	37	1	153012737	153012737	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153012737G>A	uc021ozq.1	-	0	86	c.86C>T	c.(85-87)cCc>cTc	p.P29L	SPRR2D_uc001fbb.2_Missense_Mutation_p.P29L	NM_006945	NP_008876	P22532	SPR2D_HUMAN	Homo sapiens small proline-rich protein 2D (SPRR2D), mRNA.	29	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCACTTCGGGGGTGGACATGG	0.612000														123			68		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53009975	53009975	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53009975C>T	uc001sas.3	-	1	672	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	213	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.E213*(2)|p.R212H(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCACCACTTCGCGCACGCTC	0.627000														127			27		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55003839	55003839	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:55003839G>A	uc003dhf.3	+	28	2572	c.2524G>A	c.(2524-2526)Gat>Aat	p.D842N	CACNA2D3_uc003dhg.1_Missense_Mutation_p.D748N|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	842						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGCTTCCCTGGATGGCAAATG	0.512000														29			24		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140416159	140416159	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140416159C>T	uc010ncj.1	-	9	1223	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	PNPLA7_uc011mfa.1_Missense_Mutation_p.V2M|PNPLA7_uc004cnf.2_Missense_Mutation_p.V271M	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	271					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGCAGCCGCACCATGATGATC	0.617000														45			14		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40854424	40854424	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:40854424C>T	uc003jmg.3	+	2	3065	c.2990C>T	c.(2989-2991)cCc>cTc	p.P997L		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	997	Pro-rich.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CCAAGCCAGCCCTGGCCTCCC	0.527000														343			125		0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43585168	43585168	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43585168C>T	uc002ovr.3	-	1	467	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	99	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TATGCTGTTTCTCGTCCACTA	0.453000														341			123		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631964	156631964	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:156631964C>T	uc003iov.3	+	6	1183	c.647C>T	c.(646-648)cCc>cTc	p.P216L	GUCY1A3_uc003iou.2_Missense_Mutation_p.P216L|GUCY1A3_uc010iqc.2_Missense_Mutation_p.P216L|GUCY1A3_uc010iqd.3_Missense_Mutation_p.P215L|GUCY1A3_uc003iow.3_Missense_Mutation_p.P216L|GUCY1A3_uc003iox.3_Missense_Mutation_p.P216L|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Missense_Mutation_p.P216L|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.P216L	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	216					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTGATTCTTCCCGGCATCATA	0.463000														92			43		0	0	1	0	0
GPR27	2850	broad.mit.edu	37	3	71803815	71803815	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:71803815C>T	uc011bge.2	+	0	615	c.615C>T	c.(613-615)ctC>ctT	p.L205L	EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_5'UTR	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA.	205						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TCCGCCTGCTCTTCTTCATCC	0.761000														11			3		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017381	93017381	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:93017381C>T	uc022axs.1	-	5	1067	c.880G>A	c.(880-882)Gat>Aat	p.D294N	RUNX1T1_uc003yfc.2_Missense_Mutation_p.D208N|RUNX1T1_uc010mam.3_Missense_Mutation_p.D208N|RUNX1T1_uc003yfe.2_Missense_Mutation_p.D198N|RUNX1T1_uc003yfd.3_Missense_Mutation_p.D235N|RUNX1T1_uc022axo.1_Missense_Mutation_p.D235N|RUNX1T1_uc010mao.3_Missense_Mutation_p.D208N|RUNX1T1_uc011lgi.2_Missense_Mutation_p.D246N|RUNX1T1_uc022axp.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axq.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axr.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axt.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axu.1_Missense_Mutation_p.D215N|RUNX1T1_uc022axv.1_Missense_Mutation_p.D235N|RUNX1T1_uc003yfb.2_Missense_Mutation_p.D198N|RUNX1T1_uc003yff.1_Missense_Mutation_p.D198N	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	235	Poly-Pro.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCGTTCACATCGAGAAGCAGC	0.552000														119			24		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26165144	26165144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26165144G>A	uc003abz.1	+	3	1511	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	MYO18B_uc003aca.1_Missense_Mutation_p.E302K|MYO18B_uc010guy.1_Missense_Mutation_p.E302K|MYO18B_uc010guz.1_Missense_Mutation_p.E302K|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	421						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						AGCCCCAAAGGAGGTGAGCAC	0.607000														18			6		0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105219820	105219820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:105219820G>A	uc003pqu.1	-	17	2271	c.1994C>T	c.(1993-1995)tCc>tTc	p.S665F	HACE1_uc010kcy.1_Missense_Mutation_p.S147F|HACE1_uc010kcz.1_Intron|HACE1_uc010kcx.1_Missense_Mutation_p.S74F|HACE1_uc003pqt.1_Missense_Mutation_p.S318F	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	665	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTTGTAGAAGGATCGTGTGAA	0.363000														48			28		0	0	1	0	0
EIF5AL1	143244	broad.mit.edu	37	10	81272723	81272724	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81272723_81272724GG>AA	uc009xrx.3	+	0	367_368	c.318_319GG>AA	c.(316-321)ggggag>ggAAag	p.E107K	AK302451_uc010qls.1_5'Flank	NM_001099692	NP_001093162	Q6IS14	IF5AL_HUMAN	Homo sapiens eukaryotic translation initiation factor 5A-like 1 (EIF5AL1), mRNA.	107					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGGACAGCGGGGAGGTACCAGA	0.535000														99			9		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115456614	115456614	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:115456614G>A	uc001efr.3	+	19	1875	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E556K|SYCP1_uc009wgw.3_Missense_Mutation_p.E556K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	556					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)		AAAGCAAGAAGAAAGGATGTT	0.244000														48			19		0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50684298	50684298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50684298G>A	uc001jhs.4	-	11	2499	c.2345C>T	c.(2344-2346)tCc>tTc	p.S782F	ERCC6_uc009xod.3_5'UTR|ERCC6_uc010qgr.2_Missense_Mutation_p.S152F|ERCC6_uc001jhr.4_Intron	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	782					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AACTTCTTTGGAATCAACGAA	0.378000								Direct reversal of damage;Nucleotide excision repair (NER)						76			21		0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94845910	94845910	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94845910C>T	uc001ycy.4	-	5	1510	c.956G>A	c.(955-957)gGa>gAa	p.G319E	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Missense_Mutation_p.G319E|SERPINA1_uc010auy.3_Missense_Mutation_p.G319E|SERPINA1_uc001ycz.4_Missense_Mutation_p.G319E|SERPINA1_uc010auz.3_Missense_Mutation_p.G319E|SERPINA1_uc010ava.3_Missense_Mutation_p.G319E|SERPINA1_uc001ydb.4_Missense_Mutation_p.G319E|SERPINA1_uc010avb.3_Missense_Mutation_p.G319E|SERPINA1_uc001ydc.4_Missense_Mutation_p.G319E|SERPINA1_uc010auw.3_Missense_Mutation_p.G319E|SERPINA1_uc010aux.3_Missense_Mutation_p.G319E|SERPINA1_uc001yda.1_Missense_Mutation_p.G319E	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	319					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	p.G319V(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	ATCATAGGTTCCAGTAATGGA	0.522000														137			13		0	0	1	0	0
OR1L6	392390	broad.mit.edu	37	9	125513025	125513025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125513025G>A	uc022bna.1	+	0	899	c.899G>A	c.(898-900)aGg>aAg	p.R300K		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA.	336					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R336T(1)		breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GATATGAAGAGGGGTTTGAAG	0.408000														42			21		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513219	61513219	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61513219G>A	uc002ydr.2	-	15	4401	c.4089C>T	c.(4087-4089)atC>atT	p.I1363I	DIDO1_uc002yds.2_Silent_p.I1363I	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1363					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACTGCTGGACGATCGGATCTA	0.622000														128			57		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32239700	32239700	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:32239700C>T	uc011alu.2	+	28	2905	c.2703C>T	c.(2701-2703)ttC>ttT	p.F901F	DEPDC5_uc011als.2_Silent_p.F823F|DEPDC5_uc003als.3_Silent_p.F892F|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.F892F|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Silent_p.F341F|DEPDC5_uc011alw.1_Silent_p.F222F|DEPDC5_uc003alw.3_Silent_p.F190F|DEPDC5_uc011alx.2_Intron|DEPDC5_uc010gwk.3_5'Flank	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	892					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACTCAGAGTTCGTCTCCTGCT	0.493000														100			46		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57865728	57865728	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57865728G>A	uc001snx.3	+	11	3299	c.3205G>A	c.(3205-3207)Ggc>Agc	p.G1069S	GLI1_uc021qzi.1_Missense_Mutation_p.G1028S|GLI1_uc009zpq.3_Missense_Mutation_p.G941S	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	1069					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGATCAGCGGGGCAGCTCTGG	0.572000														198			16		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149509438	149509438	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149509438C>T	uc003lro.3	-	9	1930	c.1461G>A	c.(1459-1461)caG>caA	p.Q487Q	PDGFRB_uc010jhd.3_Silent_p.Q326Q	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	487	Ig-like C2-type 5.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTCAAACTCCTGCTCCTCCT	0.647000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			42		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161152234	161152234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:161152234C>T	uc003qtm.4	+	10	1520	c.1408C>T	c.(1408-1410)Ctt>Ttt	p.L470F		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	470					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGTTGTCCTGCTTCCAGATGT	0.498000														54			11		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169282328	169282328	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169282328C>T	uc021xuh.1	-	35	5073	c.4963G>A	c.(4963-4965)Gat>Aat	p.D1655N	DDX60L_uc003irq.4_Missense_Mutation_p.D1655N	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1655							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AATGCAAAATCTTTCAAACAC	0.289000														18			5		0	0	1	0	0
EVX2	344191	broad.mit.edu	37	2	176946975	176946975	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:176946975C>T	uc010zeu.2	-	1	816	c.630G>A	c.(628-630)gaG>gaA	p.E210E		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	210						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E210K(2)|p.R209R(1)		kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		ACACATAGTTCTCCCGGTAGA	0.662000														19			9		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87179319	87179319	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87179319C>T	uc003uiz.2	-	13	1895	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	ABCB1_uc011khc.2_Missense_Mutation_p.E404K	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	468	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	p.R467W(4)|p.R467L(2)		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)	CCAATGATTTCCCGTAGAAAC	0.408000														110			36		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825119	4825119	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4825119G>A	uc021qcs.1	-	0	492	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAGACACCATGAAGCAGAAGG	0.547000														78			12		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51189562	51189562	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51189562C>T	uc002psx.1	-	19	2528	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K	SHANK1_uc002psw.1_Missense_Mutation_p.E221K	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	837					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCAGGGCTTTCGCTTGCACTG	0.562000														57			26		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369418	22369418	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22369418C>T	uc010tzu.2	+	0	941	c.843C>T	c.(841-843)ttC>ttT	p.F281F	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTTTAATATTCCCTTTACGTA	0.378000														77			6		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16033188	16033188	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16033188G>A	uc002nbu.2	-	7	1007	c.971C>T	c.(970-972)aCc>aTc	p.T324I	CYP4F11_uc010eab.1_Missense_Mutation_p.T324I|CYP4F11_uc002nbt.2_Missense_Mutation_p.T324I	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	324					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AAACATGAAGGTGTCAGCTTC	0.527000														163			59		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7310146	7310146	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7310146C>T	uc001qss.3	+	15	3163	c.2625C>T	c.(2623-2625)gtC>gtT	p.V875V	CLSTN3_uc001qsr.3_Silent_p.V863V|CLSTN3_uc001qst.3_Silent_p.V271V	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	863					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.H874Y(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGCTCATGGTCGTCCTGGGCC	0.662000														26			11		0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162280578	162280578	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:162280578G>A	uc002ubw.1	+	5	2191	c.1889G>A	c.(1888-1890)gGg>gAg	p.G630E	TBR1_uc010foy.2_Missense_Mutation_p.G343E	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	630						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						AGCGACTCGGGGATTTACGAG	0.687000														15			3		0	0	1	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975359	32975359	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32975359C>T	uc003ocr.3	-	2	418	c.342G>A	c.(340-342)cgG>cgA	p.R114R	HLA-DOA_uc010juj.3_Silent_p.R84R|HLA-DOA_uc010jui.3_Silent_p.R114R	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	114	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GCACGGTCACCCGTGGAGGCA	0.597000														86			46		0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629548	1629548	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1629548C>T	uc001ltw.1	-	0	146	c.68G>A	c.(67-69)gGc>gAc	p.G23D	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	23						keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGAGCCACAGCCCCCACAGCT	0.662000														142			67		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121428052	121428052	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121428052C>T	uc001pxx.3	+	18	2730	c.2601C>T	c.(2599-2601)ctC>ctT	p.L867L		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	867					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.R866*(2)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACTTCCGACTCACAATCGTCA	0.527000														106			34		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024624	76024624	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:76024624C>T	uc010kbe.3	-	5	1463	c.933G>A	c.(931-933)tcG>tcA	p.S311S	FILIP1_uc003phy.1_Silent_p.S308S|FILIP1_uc003phz.3_Silent_p.S209S|FILIP1_uc003pia.3_Silent_p.S308S|FILIP1_uc003pib.1_Silent_p.S60S	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	308										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAGAAAACCTCGAAGCCTTGT	0.418000														60			40		0	0	1	0	0
C9orf24	84688	broad.mit.edu	37	9	34381390	34381390	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:34381390C>T	uc003zuh.1	-	3	667	c.449G>A	c.(448-450)aGg>aAg	p.R150K	C9orf24_uc003zug.1_Missense_Mutation_p.R15K|C9orf24_uc022bgb.1_Missense_Mutation_p.R15K|C9orf24_uc003zuf.1_Missense_Mutation_p.R15K|C9orf24_uc003zui.1_Missense_Mutation_p.R15K	NM_032596	NP_115985	Q8NCR6	CI024_HUMAN	Homo sapiens chromosome 9 open reading frame 24 (C9orf24), transcript variant 1, mRNA.	150										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		CCGCTCCGGCCTAGGAGGGCA	0.617000														117			36		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11231096	11231096	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11231096C>T	uc002mqk.4	+	13	2225	c.2038C>T	c.(2038-2040)Ctg>Ttg	p.L680L	LDLR_uc010xlk.2_Silent_p.L680L|LDLR_uc010xll.2_Silent_p.L639L|LDLR_uc021upc.1_Silent_p.L559L|LDLR_uc010xln.2_Intron|LDLR_uc010xlo.2_Silent_p.L512L|LDLR_uc010xlm.2_Silent_p.L533L|LDLR_uc021upd.1_Silent_p.L417L	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	680	EGF-like 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.?(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)	CTGCCAGTATCTGTGCCTCCC	0.622000														72			15		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10353916	10353916	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10353916G>A	uc002gmn.3	-	29	4146	c.4035C>T	c.(4033-4035)gaC>gaT	p.D1345D	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1345					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						CCCGCAGCAGGTCACAGTCAT	0.532000														45			39		0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155719427	155719427	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155719427C>T	uc003ioo.3	+	2	789	c.616C>T	c.(616-618)Cca>Tca	p.P206S	RBM46_uc011cim.1_Missense_Mutation_p.P206S|RBM46_uc003iop.1_Missense_Mutation_p.P206S	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	206	RRM 2.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GAAACTAATTCCAGGTAAACT	0.338000														55			14		0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899198	233899198	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233899198C>T	uc010zmn.2	+	1	574	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	192							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		AAGGCCGATCCCCTCTGCCTT	0.657000														70			38		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985474	140985474	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140985474C>T	uc011mwp.2	+	7	1788	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	MAGEC3_uc004fbs.3_Missense_Mutation_p.P346S|MAGEC3_uc010nsj.3_Missense_Mutation_p.P346S|MAGEC3_uc022cfh.1_Missense_Mutation_p.P346S	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	596	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTATCATCCCTAGTGCCT	0.473000														41			64		0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188956634	188956634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:188956634C>T	uc003frv.2	+	8	1642	c.415C>T	c.(415-417)Cct>Tct	p.P139S	TPRG1_uc003frw.2_Missense_Mutation_p.P139S	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	139										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		GCAGCGGATTCCTCTGAGCGC	0.478000														99			36		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004313	187004313	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187004313C>T	uc003iyq.3	+	3	1574	c.1473C>T	c.(1471-1473)gcC>gcT	p.A491A	TLR3_uc011ckz.2_Silent_p.A214A|TLR3_uc003iyr.3_Silent_p.A214A	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	491					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GAAGGGTGGCCCTTAAAAATG	0.448000														92			50		0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54956501	54956501	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:54956501C>T	uc004dtq.3	+	11	3451	c.3344C>T	c.(3343-3345)aCc>aTc	p.T1115I	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Missense_Mutation_p.T646I|TRO_uc004dtw.3_Missense_Mutation_p.T718I|TRO_uc004dtx.3_Missense_Mutation_p.T498I	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	1115	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCACTTAGTACCGCTGCTGAC	0.582000														13			33		0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93098047	93098047	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:93098047C>T	uc003umv.2	-	7	855	c.555G>A	c.(553-555)ctG>ctA	p.L185L	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Silent_p.L167L|CALCR_uc003umw.2_Silent_p.L167L	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	167					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.H184L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CGAAAATCCCCAGGGAAATCA	0.383000														63			13		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81134856	81134856	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:81134856G>A	uc002fgh.1	-	44	7246	c.7246C>T	c.(7246-7248)Ctg>Ttg	p.L2416L	PKD1L2_uc002fgf.1_Silent_p.L218L|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2418	Interaction with GNAS and GNAI1.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATTTTCATCAGCAGCAAATCT	0.522000														39			15		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161173184	161173184	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:161173184C>T	uc003qtm.4	+	17	2275	c.2163C>T	c.(2161-2163)ctC>ctT	p.L721L		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	721	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAGCCCAGCTCCCTGTGATTG	0.468000														39			17		0	0	1	0	0
LOC100132247	0	broad.mit.edu	37	16	21858755	21858755	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21858755G>A	uc002djr.3	-	3	410	c.228C>T	c.(226-228)acC>acT	p.T76T	LOC100132247_uc002djs.3_Non-coding_Transcript|LOC100132247_uc002djq.3_Silent_p.T57T|LOC100132247_uc010vbn.1_Silent_p.T76T	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		CTATCCAGAGGGTAATGACAA	0.353000														93			14		0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211163245	211163245	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:211163245G>A	uc002vec.3	-	2	332	c.203C>T	c.(202-204)tCc>tTc	p.S68F	MYL1_uc002veb.3_Missense_Mutation_p.S24F	NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	68	EF-hand 1.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GGTGATCTTGGAATCACCTGT	0.448000														59			35		0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58000757	58000757	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:58000757G>A	uc001sow.1	+	4	448	c.111G>A	c.(109-111)ctG>ctA	p.L37L	DTX3_uc001sov.1_Silent_p.L30L|DTX3_uc001sox.1_Silent_p.L30L|DTX3_uc001soy.1_Silent_p.L30L	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	Homo sapiens deltex homolog 3 (Drosophila) (DTX3), mRNA.	37					Notch signaling pathway	cytoplasm	zinc ion binding	p.R36L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CAGCCCGGCTGGCCCGGCTTC	0.607000														330			47		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79028820	79028820	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:79028820C>T	uc003kgc.3	+	1	4304	c.4232C>T	c.(4231-4233)tCa>tTa	p.S1411L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1411						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GATGAACATTCAGTTCTTGCA	0.408000														27			9		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932943	32932943	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:32932943C>T	uc003cff.3	+	3	2310	c.2247C>T	c.(2245-2247)tcC>tcT	p.S749S		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	749					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACTTTGACTCCCCACGGGGTG	0.577000														54			8		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16955966	16955967	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:16955966_16955967AG>TA	uc001ioo.3	-	47	7428_7429	c.7376_7377CT>TA	c.(7375-7377)tct>tTA	p.S2459L		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2459	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGTTCCAATAGAGCCCTGAAG	0.475000														75			31		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29407834	29407834	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29407834C>T	uc011dlp.2	+	0	119	c.42C>T	c.(40-42)ctC>ctT	p.L14L	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCTTCTTCTCGGCTTCTCCC	0.498000														75			8		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	336800	336800	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:336800G>A	uc001qic.2	-	7	956	c.866C>T	c.(865-867)tCc>tTc	p.S289F	SLC6A13_uc009zdj.2_Missense_Mutation_p.S289F|SLC6A13_uc010sdl.2_Missense_Mutation_p.S197F|SLC6A13_uc010sdm.1_Missense_Mutation_p.S170F	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	289					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GATGGCGAAGGAGAAGAATAT	0.567000														36			17		0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96691678	96691678	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:96691678C>T	uc002svf.3	-	12	1461	c.1238_splice	c.e12+1	p.C413_splice	GPAT2_uc002sve.3_Splice_Site_p.C215_splice|GPAT2_uc002svd.3_Splice_Site_p.C226_splice|GPAT2_uc002svg.3_Splice_Site_p.C286_splice|GPAT2_uc010yuh.2_Splice_Site_p.C342_splice|GPAT2_uc002svh.3_Splice_Site_p.C413_splice	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA.	413					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GTGCCCCTACCATTGGCCCAG	0.607000														48			20		0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143513864	143513864	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:143513864G>A	uc003evn.3	-	3	721	c.512C>T	c.(511-513)gCc>gTc	p.A171V	SLC9A9_uc011bnk.2_Missense_Mutation_p.A45V	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	171					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCAGGAGATGGCAGTTCCCAA	0.413000														77			35		0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373732	86373732	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:86373732C>T	uc010sum.2	-	5	1003	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	MGAT4C_uc001tal.4_Missense_Mutation_p.G258S|MGAT4C_uc001taj.4_Missense_Mutation_p.G258S|MGAT4C_uc001tak.4_Missense_Mutation_p.G258S|MGAT4C_uc001tai.4_Missense_Mutation_p.G258S|MGAT4C_uc001tah.4_Missense_Mutation_p.G258S	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	258					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCAATGTAGCCAAGCTTAGAG	0.363000														79			17		0	0	1	0	0
BC067347	0	broad.mit.edu	37	17	20744410	20744410	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:20744410C>T	uc010crb.2	+	0		c.70C>T								Homo sapiens cDNA clone IMAGE:6269068, partial cds.																		GCTGCCCGCCCTGCCCCGGCC	0.751000														13			10		0	0	1	0	0
INPP5A	3632	broad.mit.edu	37	10	134579348	134579348	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:134579348C>T	uc001llp.3	+	11	1223	c.975C>T	c.(973-975)ccC>ccT	p.P325P	INPP5A_uc001llo.1_Silent_p.P325P|INPP5A_uc001llq.3_Silent_p.P220P	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	325					cell communication	membrane	PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity	p.P325L(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CGTTCCCTCCCAGGTATGGAA	0.498000														55			19		0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154681001	154681001	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:154681001G>A	uc003wlk.3	+	23	2453	c.2324G>A	c.(2323-2325)cGa>cAa	p.R775Q	DPP6_uc003wli.3_Missense_Mutation_p.R711Q|DPP6_uc003wlm.3_Missense_Mutation_p.R713Q|DPP6_uc011kvq.2_Missense_Mutation_p.R668Q	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	775					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.S774T(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GTAGCCCATCGAGTCTCCGCG	0.542000														31			9		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34640283	34640283	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34640283G>A	uc010ucc.2	+	2	596	c.214G>A	c.(214-216)Gag>Aag	p.E72K	C15orf55_uc010ucd.2_Missense_Mutation_p.E62K|C15orf55_uc001zif.3_Missense_Mutation_p.E44K	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	44	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CCCACCCAGGGAGCCACCTCC	0.592000			T	"""BRD3, BRD4"""	lethal midline carcinoma									126			50		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71025230	71025230	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71025230C>T	uc002ezr.3	-	24	4006	c.3855G>A	c.(3853-3855)gtG>gtA	p.V1285V		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1285										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)				CATCTGAGATCACACTGGAAG	0.463000														87			28		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227983445	227983445	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:227983445T>C	uc021vxr.1	-	5	506	c.405A>G	c.(403-405)aaA>aaG	p.K135K	COL4A4_uc021vxs.1_Silent_p.K135K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	135	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCATACCAGGTTTGCCTCTGG	0.493000														67			29		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78383099	78383099	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:78383099C>T	uc001ozl.4	-	30	6235	c.5772G>A	c.(5770-5772)tgG>tgA	p.W1924*	ODZ4_uc001ozk.4_Nonsense_Mutation_p.W149*	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1924					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						ATGTGTAGCTCCATGTCTTCC	0.547000														23			8		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178410187	178410187	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178410187G>A	uc003mjr.3	-	8	2339	c.2160C>T	c.(2158-2160)ccC>ccT	p.P720P	GRM6_uc003mjq.3_Silent_p.P123P	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	720					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGCTGTGTGGGGGCCGGGCCC	0.602000														41			18		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119699940	119699940	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:119699940C>T	uc002tln.1	+	0	196	c.64C>T	c.(64-66)Cac>Tac	p.H22Y	MARCO_uc010yyf.1_5'UTR	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	22					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						AGCTGCTTTTCACCAAATTGC	0.423000														91			22		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281220	152281220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152281220C>T	uc001ezu.1	-	2	6178	c.6142G>A	c.(6142-6144)Gag>Aag	p.E2048K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2048	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATGTCCCTCACTGTCACTG	0.562000									Ichthyosis					548			232		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	333603	333603	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:333603G>A	uc001qic.2	-	9	1227	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	SLC6A13_uc009zdj.2_Silent_p.F369F|SLC6A13_uc010sdl.2_Silent_p.F287F	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	379					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CCATGAAGAAGAAACAGCAGG	0.597000														98			15		0	0	1	0	0
C11orf52	91894	broad.mit.edu	37	11	111796863	111796863	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:111796863G>A	uc001pmh.3	+	4	795	c.312G>A	c.(310-312)gcG>gcA	p.A104A		NM_080659	NP_542390	Q96A22	CK052_HUMAN	Homo sapiens chromosome 11 open reading frame 52 (C11orf52), mRNA.	104										lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		CAGAGTATGCGACCCTTCGCT	0.547000														48			12		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38593037	38593037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38593037G>A	uc021wvo.1	-	26	4878	c.4826C>T	c.(4825-4827)tCg>tTg	p.S1609L	SCN5A_uc021wvk.1_Missense_Mutation_p.S1576L|SCN5A_uc021wvl.1_Missense_Mutation_p.S1555L|SCN5A_uc021wvm.1_Missense_Mutation_p.S1591L|SCN5A_uc021wvn.1_Missense_Mutation_p.S1608L|SCN5A_uc021wvp.1_Missense_Mutation_p.S1609L|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.S1421L|SCN5A_uc021wvi.1_Missense_Mutation_p.S1475L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1609			S -> W (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GATGATGTCCGAGAGCACAGT	0.617000														76			24		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767944	57767944	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:57767944G>A	uc002yan.3	+	0	1870	c.1870G>A	c.(1870-1872)Ggg>Agg	p.G624R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	624						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGGTGTACGGGGATGAGAC	0.607000														79			33		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75108723	75108723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75108723G>A	uc001dgg.3	-	3	522	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	101										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						TAAACCTCTGGATTCGCTCCT	0.338000														73			28		0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37365703	37365703	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:37365703G>A	uc010ynh.2	-	6	1099	c.542C>T	c.(541-543)tCt>tTt	p.S181F	EIF2AK2_uc010fab.2_Missense_Mutation_p.S181F|EIF2AK2_uc010yng.2_Missense_Mutation_p.S181F|EIF2AK2_uc010fac.3_Missense_Mutation_p.S181F|EIF2AK2_uc010fad.2_Missense_Mutation_p.S181F	NM_002759	NP_002750	P19525	E2AK2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.	181					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				AGTAGCAAAAGAACCAGAGGA	0.368000														74			22		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44069433	44069433	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44069433C>T	uc001cjr.3	+	15	2950	c.2610C>T	c.(2608-2610)ttC>ttT	p.F870F	PTPRF_uc001cjs.3_Silent_p.F861F|PTPRF_uc001cju.3_Intron|PTPRF_uc009vwt.3_Silent_p.F430F|PTPRF_uc001cjv.3_Silent_p.F330F|PTPRF_uc001cjw.3_Silent_p.F96F	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	870	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCATAGATTTCGGCAAGGATG	0.637000														73			21		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48506595	48506595	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48506595G>A	uc003toq.2	+	43	12882	c.12858G>A	c.(12856-12858)cgG>cgA	p.R4286R	ABCA13_uc010kys.1_Silent_p.R1361R|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Intron	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4286					transport	integral to membrane	ATP binding|ATPase activity	p.H4285R(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCTTCTGCGGAAGTTTAGAG	0.478000														90			28		0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2024083	2024083	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2024083C>T	uc002cnu.1	+	1	170	c.68C>T	c.(67-69)cCt>cTt	p.P23L	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_5'UTR|TBL3_uc010bsc.1_5'Flank|TBL3_uc010uvt.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	23					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						AAAATTGAGCCTTTCTACAAG	0.652000														34			8		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291424	33291424	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:33291424G>A	uc001wrq.3	+	12	4575	c.4405G>A	c.(4405-4407)Gat>Aat	p.D1469N		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1469					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TACATTTTATGATTACTCATA	0.373000														30			19		0	0	1	0	0
PHYHIPL	84457	broad.mit.edu	37	10	60994167	60994167	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:60994167G>A	uc001jkk.4	+	1	476	c.210G>A	c.(208-210)tgG>tgA	p.W70*	PHYHIPL_uc001jkl.4_Nonsense_Mutation_p.W24*|PHYHIPL_uc001jkm.4_Nonsense_Mutation_p.W44*	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein-like (PHYHIPL), transcript variant 1, mRNA.	70	Fibronectin type-III.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						AGATTTCATGGGAAATGGATT	0.338000														86			17		0	0	1	0	0
VIP	7432	broad.mit.edu	37	6	153078241	153078241	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:153078241G>A	uc003qpe.3	+	5	650	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	VIP_uc003qpf.3_Missense_Mutation_p.E159K|VIP_uc010kjd.3_Missense_Mutation_p.E158K	NM_003381	NP_003372	P01282	VIP_HUMAN	Homo sapiens vasoactive intestinal peptide (VIP), transcript variant 1, mRNA.	160					G-protein coupled receptor protein signaling pathway|body fluid secretion|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CAGTGAGGGAGAATCTCCCGA	0.403000														18			12		0	0	1	0	0
MYBPHL	343263	broad.mit.edu	37	1	109840226	109840226	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:109840226G>A	uc001dxk.1	-	2	298	c.248C>T	c.(247-249)cCt>cTt	p.P83L	MYBPHL_uc010ovh.1_Missense_Mutation_p.P83L|MYBPHL_uc001dxl.3_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	Homo sapiens myosin binding protein H-like (MYBPHL), mRNA.	83	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GATGGCTTGAGGTTTGGGCTT	0.587000														36			16		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849774	73849774	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:73849774G>A	uc003xzb.3	+	2	2772	c.2184G>A	c.(2182-2184)caG>caA	p.Q728Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	728					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)			GTGCACCACAGACCCCGCCCA	0.532000														110			56		0	0	1	0	0
TRDN	10345	broad.mit.edu	37	6	123699017	123699017	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:123699017C>T	uc003pzj.2	-	16	1531	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K	TRDN_uc003pzk.2_Missense_Mutation_p.E406K|TRDN_uc010kem.2_5'UTR	NM_006073	NP_006064	Q13061	TRDN_HUMAN	Homo sapiens triadin (TRDN), transcript variant 1, mRNA.	405					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TTACCTGGTTCCACATGTTTT	0.249000														5			8		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28598107	28598107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28598107C>T	uc002kwj.4	-	8	1348	c.1193G>A	c.(1192-1194)gGa>gAa	p.G398E	DSC3_uc002kwi.4_Missense_Mutation_p.G398E	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	398	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATTTTCATTTCCCTTTAAAAT	0.318000														96			29		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817226	69817226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69817226C>T	uc003hef.2	-	0	284	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	85						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCATTTTCTTCTGTTCTGTCC	0.368000														67			22		0	0	1	0	0
SMCR7	125170	broad.mit.edu	37	17	18167217	18167217	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:18167217C>T	uc010vxq.2	+	3	563	c.537C>T	c.(535-537)ttC>ttT	p.F179F	SMCR7_uc002gsu.3_Missense_Mutation_p.P144S|SMCR7_uc002gst.3_Silent_p.F168F	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	168						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					GGAGCAAGTTCCCGGAACTGC	0.672000														12			13		0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105353296	105353296	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105353296C>T	uc001yps.3	+	10	2816	c.2510C>T	c.(2509-2511)tCc>tTc	p.S837F	KIAA0284_uc010axb.3_Missense_Mutation_p.S837F|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	907						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GACTTCCACTCCCAGGACACC	0.682000														58			20		0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990476	990476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:990476G>A	uc003zgw.1	+	1	928	c.890G>A	c.(889-891)cGa>cAa	p.R297Q		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	297					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GGAGCAGAGCGAACTTCCGCA	0.582000														56			13		0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47117421	47117421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:47117421G>A	uc002eer.2	-	8	1702	c.1289C>T	c.(1288-1290)aCc>aTc	p.T430I	NETO2_uc002eeq.2_Missense_Mutation_p.T165I|NETO2_uc010vgf.2_Missense_Mutation_p.T423I	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.	430						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GCGGGAGGCGGTGGAGGAGCG	0.527000										HNSCC(25;0.065)				123			39		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123780052	123780052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:123780052G>A	uc004bkv.3	-	12	1615	c.1585C>T	c.(1585-1587)Cca>Tca	p.P529S	C5_uc010mvm.1_Missense_Mutation_p.P529S|C5_uc010mvn.1_Missense_Mutation_p.P529S	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	529					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TGTGTTACTGGAATGTTTATA	0.388000														60			20		0	0	1	0	0
GSTA3	2940	broad.mit.edu	37	6	52764831	52764831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:52764831C>T	uc003pbb.3	-	4	394	c.315G>A	c.(313-315)atG>atA	p.M105I	GSTA3_uc010jzq.3_Missense_Mutation_p.M49I	NM_000847	NP_000838	Q16772	GSTA3_HUMAN	Homo sapiens glutathione S-transferase alpha 3 (GSTA3), mRNA.	105	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	GAAGAAGGATCATTTCATTCA	0.383000														188			61		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8755350	8755350	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:8755350G>A	uc002wnb.3	+	26	3098	c.3095G>A	c.(3094-3096)cGa>cAa	p.R1032Q	PLCB1_uc010zrb.1_Missense_Mutation_p.R931Q|PLCB1_uc002wna.3_Missense_Mutation_p.R1032Q|PLCB1_uc002wnc.1_Missense_Mutation_p.R931Q|PLCB1_uc002wnd.1_Missense_Mutation_p.R609Q	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	1032					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						TACCAGAAGCGAGAACATATT	0.373000														74			25		0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170236609	170236609	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:170236609C>T	uc003mau.3	+	8	1068	c.870C>T	c.(868-870)atC>atT	p.I290I	GABRP_uc011dev.2_Intron	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	290						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACTGATGATCGGGTCCCGCA	0.517000											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		178			15		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754616	49754616	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:49754616G>A	uc003ozu.3	-	0	438	c.285C>T	c.(283-285)ttC>ttT	p.F95F		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	95					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGTCCTTCAGGAACAGAACAT	0.527000														106			42		0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52660491	52660491	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:52660491C>T	uc001vge.3	-	15	1541	c.1401G>A	c.(1399-1401)tgG>tgA	p.W467*		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	467							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTAACTGCTTCCAATATTCCT	0.363000														96			23		0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43013755	43013755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:43013755C>T	uc003xpx.4	+	2	320	c.272C>T	c.(271-273)cCa>cTa	p.P91L		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	119					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CCTCAGAGTCCAAAAGCAGGG	0.488000														85			33		0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22972217	22972217	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:22972217G>A	uc003xcy.3	+	2	522	c.214G>A	c.(214-216)Ggt>Agt	p.G72S	TNFRSF10C_uc011kzr.2_Non-coding_Transcript	NM_003841	NP_003832	O14798	TR10C_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA.	72					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GTGCACAGAGGGTGTGGATTA	0.478000														89			44		0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41797425	41797425	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:41797425C>T	uc001zoa.3	-	14	2084	c.1906G>A	c.(1906-1908)Gaa>Aaa	p.E636K	LTK_uc001zob.3_Missense_Mutation_p.E575K|LTK_uc010ucx.1_Missense_Mutation_p.E506K|LTK_uc010bcg.2_Missense_Mutation_p.E334K	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	636	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AAGTGATTTTCCTCCAGGTAG	0.602000										TSP Lung(18;0.14)				20			33		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553778	19553778	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:19553778G>A	uc001vuz.1	+	0	414	c.362G>A	c.(361-363)gGa>gAa	p.G121E	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	121								p.W120L(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGCCCTTGGGGAGACTACGAC	0.597000														359			60		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53907760	53907760	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:53907760C>T	uc002acj.2	-	14	2685	c.2643G>A	c.(2641-2643)caG>caA	p.Q881Q	WDR72_uc010bfi.1_Silent_p.Q881Q	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	881										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GAATTCCAACCTGATTTGGAA	0.318000														67			22		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070509	9070509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9070509G>A	uc002mkp.3	-	2	17141	c.16937C>T	c.(16936-16938)tCc>tTc	p.S5646F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5648	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						TGATGTGGAGGAAACAGGAGA	0.517000														21			12		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931190	157931190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:157931190G>A	uc003wno.3	-	6	1049	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F	PTPRN2_uc003wnp.3_Missense_Mutation_p.L293F|PTPRN2_uc003wnq.3_Missense_Mutation_p.L310F|PTPRN2_uc003wnr.3_Missense_Mutation_p.L272F|PTPRN2_uc011kwa.2_Missense_Mutation_p.L333F	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	310						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCCTTCAGGAGGGTATGAATC	0.617000														61			23		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149857	153149857	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:153149857C>T	uc011dcy.2	+	12	2209	c.2182C>T	c.(2182-2184)Ctg>Ttg	p.L728L	GRIA1_uc003lva.4_Silent_p.L718L|GRIA1_uc003luy.4_Silent_p.L718L|GRIA1_uc003luz.4_Silent_p.L623L|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.L638L|GRIA1_uc011dcx.2_Silent_p.L649L|GRIA1_uc011dcz.2_Silent_p.L728L	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	718					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGCCTACCTCCTGGAGTCCAC	0.498000														46			16		0	0	1	0	0
NRG4	145957	broad.mit.edu	37	15	76254290	76254290	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:76254290G>A	uc002bbo.3	-	3	312	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	NRG4_uc010bkm.1_Non-coding_Transcript|NRG4_uc002bbp.2_Non-coding_Transcript	NM_138573	NP_612640	Q8WWG1	NRG4_HUMAN	Homo sapiens neuregulin 4 (NRG4), mRNA.	44	EGF-like.					extracellular region|integral to membrane|plasma membrane	growth factor activity			large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						TCTTCACAACGAGCTCCTGTA	0.388000														85			73		0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36940319	36940319	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36940319C>T	uc002xib.2	+	4	654	c.592C>T	c.(592-594)Cga>Tga	p.R198*		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	198					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	p.R198Q(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GTCTGCGCTTCGAAACAAGAT	0.507000														83			10		0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81239646	81239646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81239646C>T	uc001szj.1	-	3	539	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	116	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CCAAGGCCTTCATCAGTCTTT	0.458000														47			28		0	0	1	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7995115	7995115	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:7995115C>T	uc001aot.3	-	6	763	c.502G>A	c.(502-504)Gga>Aga	p.G168R		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	168					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.P167L(1)|p.P167P(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGATGCTCCCGGAGAGAGG	0.542000														65			13		0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20691984	20691984	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20691984G>A	uc010tlc.2	+	0	116	c.116G>A	c.(115-117)aGg>aAg	p.R39K		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CATGGTCAAAGGGAGATGCAG	0.463000														155			52		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561313	9561313	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9561313C>T	uc002wnl.2	-	4	1014	c.469G>A	c.(469-471)Gat>Aat	p.D157N	PAK7_uc002wnk.2_Missense_Mutation_p.D157N|PAK7_uc002wnj.2_Missense_Mutation_p.D157N|PAK7_uc010gby.1_Missense_Mutation_p.D157N	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	157	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TAATACGGATCCAGATCATCT	0.483000														166			60		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532053	50532053	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50532053C>T	uc021pqb.1	+	0	1463	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	C10orf71_uc021pqa.1_Missense_Mutation_p.S487F|C10orf71_uc021pqc.1_Missense_Mutation_p.S488F	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	488										endometrium(1)	1						GAATGTCAGTCTCGAGACAGC	0.547000														25			4		0	0	1	0	0
DOLPP1	57171	broad.mit.edu	37	9	131847378	131847378	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131847378C>T	uc004bxc.3	+	2	282	c.254C>T	c.(253-255)cCc>cTc	p.P85L	DOLPP1_uc004bxd.3_Missense_Mutation_p.P85L|DOLPP1_uc004bxe.3_Intron	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	Homo sapiens dolichyl pyrophosphate phosphatase 1 (DOLPP1), transcript variant 1, mRNA.	85					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						GAGCCACGGCCCTGTGGAGGT	0.632000														48			8		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202538	56202538	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:56202538C>T	uc002lhj.4	-	4	5095	c.4881G>A	c.(4879-4881)atG>atA	p.M1627I	ALPK2_uc002lhk.1_Missense_Mutation_p.M958I	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1627							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TAGGTTCCTCCATTTTGTGGC	0.458000														86			24		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746970	90746970	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90746970G>A	uc011lti.2	-	3	1011	c.982C>T	c.(982-984)Cat>Tat	p.H328Y		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	328																	GGCTCCAGATGGGACAGGGGC	0.552000														276			25		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100581155	100581155	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:100581155C>T	uc003dun.3	-	12	1244	c.1159_splice	c.e12+1	p.A387_splice	ABI3BP_uc003duo.2_Splice_Site_p.A429_splice	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	387						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATTTAATTACCAGTTTGAGGC	0.299000														17			4		0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100244607	100244607	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100244607G>A	uc003uvy.3	-	9	1030	c.923C>T	c.(922-924)cCc>cTc	p.P308L	ACTL6B_uc003uvz.3_Non-coding_Transcript	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	308					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GACGTTCGAGGGATCAAACAG	0.622000														55			7		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573709	38573709	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38573709C>T	uc002ohk.3	+	2	2013	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	502					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTGGGCGCCCGCTACTACCA	0.627000														38			19		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175063316	175063316	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175063316G>A	uc001gkl.1	+	6	1628	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E	TNN_uc010pmx.1_Silent_p.E505E	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	505	Fibronectin type-III 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCCAGGAGAGGCATACAAGG	0.542000														44			15		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22337337	22337337	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22337337C>T	uc021rpg.1	+	1	191	c.128C>T	c.(127-129)aCt>aTt	p.T43I	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 85.																		ATCAAGTGTACTTATTCAGAC	0.438000														103			53		0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964551	119964551	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:119964551G>A	uc001ehs.3	+	2	1200	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	HSD3B2_uc021ost.1_Missense_Mutation_p.E143K|HSD3B2_uc001eht.3_Missense_Mutation_p.E143K|HSD3B2_uc001ehu.3_Intron	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	143					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CGGCCACGAAGAAGAGCCTCT	0.527000														146			32		0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213706	3213706	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3213706C>T	uc002fvi.2	+	0	168	c.102C>T	c.(100-102)ttC>ttT	p.F34F						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		TTGTCATCTTCCTTCTTGCTT	0.527000														39			24		0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88485422	88485422	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:88485422C>T	uc002ssy.4	+	7	2926	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	THNSL2_uc002ssw.4_3'UTR|THNSL2_uc002sta.4_Silent_p.S203S|THNSL2_uc010fhe.3_Silent_p.S203S|THNSL2_uc021vkr.1_Missense_Mutation_p.P412L	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	412					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CACAGCACTCCCCGGTGCTGC	0.617000														9			4		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969464	47969464	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:47969464C>T	uc010ele.3	-	0	213	c.197G>A	c.(196-198)gGt>gAt	p.G66D	SLC8A2_uc002pgx.3_Missense_Mutation_p.G66D|SLC8A2_uc010xyq.2_Intron|SLC8A2_uc010xyr.2_Intron			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	66					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CGCCTTGTCACCCAGCGACGG	0.657000														48			14		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328286	152328286	+	Missense_Mutation	SNP	C	T	T	rs145112487		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152328286C>T	uc001ezw.4	-	2	2049	c.1976G>A	c.(1975-1977)gGa>gAa	p.G659E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	659	Ser-rich.						calcium ion binding|structural molecule activity	p.G659E(2)		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)			TGAGCCTGATCCATATTGGCC	0.493000														377			142		0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127239494	127239494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:127239494C>T	uc003vmd.2	+	4	1399	c.1180C>T	c.(1180-1182)Cgt>Tgt	p.R394C	FSCN3_uc011koh.1_Missense_Mutation_p.R260C|FSCN3_uc010llc.2_Missense_Mutation_p.R394C	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	394						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ATTGCGAGGTCGTTATGGCTA	0.507000														72			43		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451045	138451045	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:138451045G>A	uc003ihe.4	-	0	2585	c.2198C>T	c.(2197-2199)tCc>tTc	p.S733F	PCDH18_uc003ihf.4_Missense_Mutation_p.S726F|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.S513F|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	733					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCAGTTATAGGATCTAGTGTC	0.438000														59			18		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043403	74043403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74043403G>A	uc002sjr.1	+	2	2174	c.2053G>A	c.(2053-2055)Gag>Aag	p.E685K		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	685										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TAAAGGCCCGGAGAAAATTCA	0.512000														70			7		0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52756698	52756698	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52756698G>A	uc001sag.3	-	5	1137	c.1017C>T	c.(1015-1017)atC>atT	p.I339I		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	339	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCTCGTTGATCTCCTCCT	0.582000														61			27		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68115441	68115441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:68115441C>T	uc001ont.3	+	1	293	c.218C>T	c.(217-219)tCc>tTc	p.S73F	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	73	Beta-propeller 1.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCCAGTTTTCCAAGGGAGCC	0.657000														101			24		0	0	1	0	0
HCAR1	27198	broad.mit.edu	37	12	123214755	123214755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:123214755C>T	uc001ucz.3	-	0	375	c.132G>A	c.(130-132)atG>atA	p.M44I	HCAR1_uc001ucw.1_Non-coding_Transcript	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.	44					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						TCCAGGTCTTCATGTGGAAGC	0.547000														27			9		0	0	1	0	0
OR8G1	26494	broad.mit.edu	37	11	124120608	124120608	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124120608C>T	uc001pzx.3	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		TGTACTATTTCCTCAGCAGTC	0.483000														97			56		0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57910226	57910226	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57910226C>T	uc002qon.3	+	3	857	c.607C>T	c.(607-609)Cag>Tag	p.Q203*	ZNF548_uc002qom.3_Nonsense_Mutation_p.Q191*|ZNF17_uc021vck.1_Intron	NM_001172773	NP_001166244	Q8NEK5	ZN548_HUMAN	Homo sapiens zinc finger protein 548 (ZNF548), transcript variant 1, mRNA.	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAAGCCTTTCAGACTGGACA	0.498000														74			23		0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186292914	186292914	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:186292914G>A	uc001grv.3	-	42	6498	c.6201C>T	c.(6199-6201)gcC>gcT	p.A2067A	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	2067					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)		GTGCTCGAGGGGCCTGTCTTT	0.517000			T	NTRK1	papillary thyroid									131			63		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10265056	10265056	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10265056G>A	uc002mng.3	-	20	2064	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F	DNMT1_uc010xlc.2_Silent_p.F644F|DNMT1_uc002mnh.3_Silent_p.F523F|DNMT1_uc010xld.2_Silent_p.F628F	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	628					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AGAAAGTATCGAAGATCTGGT	0.562000														156			36		0	0	1	0	0
PRCC	5546	broad.mit.edu	37	1	156761529	156761529	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156761529C>T	uc001fqa.3	+	3	1414	c.1124C>T	c.(1123-1125)gCc>gTc	p.A375V		NM_005973	NP_005964	Q92733	PRCC_HUMAN	Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA.	375					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGGACCCGGCCCTGGTCCCC	0.537000			T	TFE3	papillary renal									84			19		0	0	1	0	0
IPPK	64768	broad.mit.edu	37	9	95410411	95410411	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:95410411G>A	uc004asl.1	-	5	711	c.434C>T	c.(433-435)cCt>cTt	p.P145L		NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA.	145					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						ACTCGAGAAAGGAATAAACCC	0.413000														31			4		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848367	73848367	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:73848367G>A	uc003xzb.3	+	2	1365	c.777G>A	c.(775-777)tgG>tgA	p.W259*		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	259					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)			CAAATAAATGGAAGTTCTTCA	0.453000														81			26		0	0	1	0	0
KCNS1	3787	broad.mit.edu	37	20	43723679	43723679	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43723679C>T	uc002xnc.3	-	4	1810	c.1413G>A	c.(1411-1413)gaG>gaA	p.E471E	KCNS1_uc002xnd.3_Silent_p.E471E	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 (KCNS1), mRNA.	471						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GCACGGCTGCCTCCAGAGCCT	0.577000														124			64		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46766894	46766894	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46766894C>T	uc011dwh.1	+	3	330	c.322C>T	c.(322-324)Cct>Tct	p.P108S	MEP1A_uc010jzh.1_Missense_Mutation_p.P80S|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_5'UTR	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	80	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GTTCCCCATTCCTTACATCTT	0.438000														104			29		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55145563	55145563	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55145563G>A	uc010ooe.1	+	13	2551	c.2227_splice	c.e13-1	p.I743_splice	HEATR8_uc001cxq.3_Splice_Site|HEATR8_uc010ooc.1_Splice_Site_p.I311_splice|HEATR8_uc010ood.1_Splice_Site_p.I261_splice|HEATR8_uc001cxs.2_Splice_Site|HEATR8_uc010oof.1_Intron|HEATR8_uc001cxr.1_Intron|HEATR8_uc010oog.1_Splice_Site_p.I743_splice|HEATR8_uc010ooh.1_Splice_Site|HEATR8_uc009vzq.1_Splice_Site|HEATR8_uc001cxt.1_Splice_Site|HEATR8_uc009vzr.1_5'Flank	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	743						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						CTGTGCCCCAGATCCCAGAAA	0.657000														158			60		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111748289	111748289	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:111748289A>T	uc001tsa.2	+	14	1857	c.1703A>T	c.(1702-1704)aAa>aTa	p.K568I		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	568						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L567L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CAGCTGCTGAAACACAACATC	0.687000														80			35		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121947613	121947613	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:121947613G>A	uc001uat.3	-	10	1508	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	KDM2B_uc001uar.3_Silent_p.F59F|KDM2B_uc001uas.3_Silent_p.F437F|KDM2B_uc021rfd.1_Silent_p.F437F|KDM2B_uc001uau.3_Silent_p.F351F|KDM2B_uc021rfe.1_Silent_p.F468F|KDM2B_uc001uav.4_Silent_p.F378F	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	468					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCCTTTTGAGGAATCGCAGGG	0.612000														71			13		0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810959	65810959	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65810959G>A	uc001ogv.3	-	1	475	c.315C>T	c.(313-315)ttC>ttT	p.F105F	GAL3ST3_uc001ogw.3_Silent_p.F105F	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	105					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGGGGTAGCAGAACTGGTGCT	0.687000														24			12		0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54785280	54785280	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:54785280C>T	uc004dtj.2	-	7	1257	c.1227G>A	c.(1225-1227)gtG>gtA	p.V409V		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	409	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TGGAGAGGATCACACTGGGGG	0.627000														14			15		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155458470	155458470	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:155458470G>A	uc003qqb.3	+	6	2627	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	TIAM2_uc003qqe.3_Missense_Mutation_p.D452N|TIAM2_uc010kjj.3_5'UTR	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	452					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GATTGGCAGCGATCCCCTCCG	0.502000														50			53		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751993	140751993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140751993C>T	uc003ljw.2	+	0	2032	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.R678C|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	680					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)			CCTTAGCGACCGCCCCACTCC	0.557000														97			24		0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38045833	38045833	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38045833C>T	uc003chj.3	+	15	2179	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	VILL_uc003chl.3_Silent_p.F631F	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	631					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AAGTGGGGTTCTTCAGCCAGG	0.622000											OREG0015475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			18		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325055	150325055	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150325055G>A	uc022apv.1	-	2	1321	c.841C>T	c.(841-843)Caa>Taa	p.Q281*	GIMAP6_uc003whn.3_Nonsense_Mutation_p.Q211*|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	211							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTCGCAGTTGGGCCTCCTGC	0.537000														182			83		0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31386389	31386389	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31386389C>T	uc002wyc.3	+	14	1935	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Silent_p.R518R|DNMT3B_uc002wye.3_Silent_p.R518R|DNMT3B_uc010ztz.2_Silent_p.R476R|DNMT3B_uc010zua.2_Silent_p.R442R|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.R530R|DNMT3B_uc002wyg.3_Silent_p.R237R|DNMT3B_uc010geg.3_5'Flank|DNMT3B_uc010geh.3_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	538	ADD.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTGCGGCGCCGGAAGGACT	0.637000														43			26		0	0	1	0	0
FAM118A	55007	broad.mit.edu	37	22	45719239	45719239	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:45719239C>T	uc003bfz.4	+	3	847	c.231C>T	c.(229-231)ttC>ttT	p.F77F	FAM118A_uc003bga.4_Silent_p.F77F	NM_001104595	NP_060381	Q9NWS6	F118A_HUMAN	Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA.	77						integral to membrane		p.E76*(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCGCCGAGTTCCGGAGGAAAG	0.592000														89			11		0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5626711	5626711	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5626711G>A	uc001mbf.3	+	3	1011	c.748G>A	c.(748-750)Gat>Aat	p.D250N	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.D196N|TRIM6-TRIM34_uc010qzj.2_Missense_Mutation_p.D47N|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.D222N|TRIM6-TRIM34_uc001mbe.3_Missense_Mutation_p.D47N|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.D250N|TRIM6-TRIM34_uc010qzk.2_Missense_Mutation_p.D47N|TRIM6-TRIM34_uc010qzl.2_Missense_Mutation_p.D47N|TRIM6-TRIM34_uc009yep.1_Missense_Mutation_p.D47N	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	250						intracellular	zinc ion binding	p.D250G(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GGCTGAGAATGATCTGGTCCA	0.522000											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		56			20		0	0	1	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20871407	20871407	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20871407G>A	uc002dhz.3	-	2	857	c.716C>T	c.(715-717)tCc>tTc	p.S239F	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) (DCUN1D3), mRNA.	239	DCUN1.				negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of apoptosis|response to UV-C|response to gamma radiation	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		AGTGTCCCGGGAGATGCCCTT	0.507000														101			22		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169108797	169108797	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:169108797G>A	uc003maf.3	+	6	600	c.520G>A	c.(520-522)Gac>Aac	p.D174N	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	174					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			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)			AAATATCTTGGACCCTGATAA	0.403000														144			45		0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	107823108	107823108	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:107823108C>T	uc001vql.3	-	2	1630	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	372						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCTGGTTCATCATTGGTTAGA	0.443000														43			16		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52174539	52174539	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52174539G>A	uc001ryw.3	+	20	4104	c.3926G>A	c.(3925-3927)cGa>cAa	p.R1309Q	SCN8A_uc010snl.2_Intron|SCN8A_uc001rza.1_Intron	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1309					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GCCTTATCACGATTTGAAGGG	0.458000														26			10		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267481	71267481	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:71267481G>A	uc001xmm.3	-	1	723	c.723C>T	c.(721-723)atC>atT	p.I241I	MAP3K9_uc001xml.3_Silent_p.I241I	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	241	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AATTCACCAGGATGTCTGGGG	0.502000														89			13		0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16855835	16855835	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:16855835G>A	uc002gqs.1	-	1	137	c.124C>T	c.(124-126)Cct>Tct	p.P42S	TNFRSF13B_uc010vwt.1_Intron|TNFRSF13B_uc002gqt.1_Intron	NM_012452	NP_036584	O14836	TR13B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA.	42					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CCCAGCAGAGGATCCCAGTAC	0.617000									IgA Deficiency, Selective					25			19		0	0	1	0	0
IL28RA	163702	broad.mit.edu	37	1	24483953	24483953	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24483953C>T	uc001bis.3	-	6	1257	c.1230G>A	c.(1228-1230)aaG>aaA	p.K410K	IL28RA_uc001bir.3_Silent_p.K381K|IL28RA_uc001bit.3_3'UTR|IL28RA_uc001biu.3_Silent_p.K326K	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.	410					cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4)	16		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		GGCCTGGCCCCTTCTCAGCCA	0.597000														80			9		0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56639294	56639294	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56639294G>A	uc001skm.4	-	20	2361	c.2271C>T	c.(2269-2271)ccC>ccT	p.P757P		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	757							protein binding	p.T756M(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CCAGGTGAATGGGCGTGCGGC	0.622000														43			22		0	0	1	0	0
VMO1	284013	broad.mit.edu	37	17	4688690	4688690	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:4688690C>T	uc002fyx.3	-	2	658	c.576G>A	c.(574-576)ctG>ctA	p.L192L	VMO1_uc010vsh.2_3'UTR|VMO1_uc010vsi.2_3'UTR|VMO1_uc002fyy.3_3'UTR	NM_182566	NP_872372	Q7Z5L0	VMO1_HUMAN	Homo sapiens vitelline membrane outer layer 1 homolog (chicken) (VMO1), transcript variant 1, mRNA.	192					vitelline membrane formation	extracellular region				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						GCGCGTCGTTCAGCGCAGTGT	0.642000														21			19		0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100155313	100155313	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:100155313C>T	uc001dsg.3	+	6	1940	c.1497C>T	c.(1495-1497)ccC>ccT	p.P499P		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	499					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		ATAAATCCCCCCACAAAAATT	0.463000														59			23		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187692815	187692815	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:187692815C>T	uc002upu.1	-	8	1838	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	600					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CGTGTAATTTCCCCCATACAG	0.343000														46			22		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602980	138602980	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:138602980C>T	uc011kql.2	-	1	1441	c.1392G>A	c.(1390-1392)atG>atA	p.M464I	KIAA1549_uc011kqj.2_Missense_Mutation_p.M464I	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	464						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CGACGCTACTCATTAGAGAGA	0.493000			O	BRAF	pilocytic astrocytoma									51			18		0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33143334	33143334	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:33143334C>T	uc001iwm.1	+	19	2005	c.1769C>T	c.(1768-1770)tCg>tTg	p.S590L	C10orf68_uc001iwl.1_Missense_Mutation_p.S545L|C10orf68_uc001iwn.4_Missense_Mutation_p.S586L|C10orf68_uc010qei.1_Missense_Mutation_p.S562L|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	586										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTAGGGCATTCGAAAGTTGTT	0.279000														38			13		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69683801	69683801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69683801G>A	uc003hee.3	+	1	798	c.773G>A	c.(772-774)cGa>cAa	p.R258Q	UGT2B10_uc011cam.2_Missense_Mutation_p.R174Q	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	258					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGGCTTATGCGAAACTCCTGG	0.383000														128			71		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6702545	6702545	+	Missense_Mutation	SNP	C	T	T	rs143642234		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6702545C>T	uc002mfm.3	-	17	2353	c.2291G>A	c.(2290-2292)cGa>cAa	p.R764Q		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	764					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.R764Q(2)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GAACTCACTTCGGGAAACGAT	0.537000														104			37		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48764779	48764779	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:48764779G>A	uc001zwx.2	-	34	4700	c.4305C>T	c.(4303-4305)ttC>ttT	p.F1435F		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1435	EGF-like 24; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACTGGGCACGAAGCCCATGT	0.522000														116			58		0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170498183	170498183	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:170498183G>A	uc003isd.2	-	11	1494	c.916C>T	c.(916-918)Cag>Tag	p.Q306*	NEK1_uc003ise.2_Nonsense_Mutation_p.Q306*|NEK1_uc003isb.2_Nonsense_Mutation_p.Q306*|NEK1_uc003isc.2_Nonsense_Mutation_p.Q306*|NEK1_uc003isf.2_Nonsense_Mutation_p.Q306*|NEK1_uc003isg.1_Nonsense_Mutation_p.Q227*	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	306					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		GTAATTTTCTGAGCAGGCATA	0.328000														41			17		0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113999206	113999206	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113999206G>A	uc010yxt.2	-	6	865	c.699C>T	c.(697-699)ctC>ctT	p.L233L	PAX8_uc010yxu.2_Silent_p.L233L|PAX8_uc002tjm.3_Silent_p.L233L|PAX8_uc002tjn.3_Silent_p.L233L|PAX8_uc010fku.1_Silent_p.L233L|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	233					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CGAGCGGCTCGAGGTGGTGCT	0.627000			T	PPARG	follicular thyroid		Thyroid dysgenesis							24			24		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	94815	94815	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000209.1:94815C>T	uc002quk.1	+	5	818	c.763C>T	c.(763-765)Ctc>Ttc	p.L255F	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	255							receptor activity										CTTCATCATCCTCTTCTTCTT	0.488000														69			43		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41711233	41711233	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41711233C>T	uc002yyq.1	-	6	1772	c.1320G>A	c.(1318-1320)tgG>tgA	p.W440*	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	440	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGTCCAGGGTCCACGTGATCG	0.537000														36			15		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171071264	171071264	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:171071264G>A	uc002ufy.3	+	4	595	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	MYO3B_uc002ufv.3_Missense_Mutation_p.R138Q|MYO3B_uc010fqb.1_Missense_Mutation_p.R151Q|MYO3B_uc002ufz.3_Missense_Mutation_p.R151Q|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Missense_Mutation_p.R138Q	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	151	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CACAACAACCGAATCATCCAC	0.428000														51			19		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111584888	111584888	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:111584888G>A	uc003vfy.3	-	9	1091	c.822C>T	c.(820-822)atC>atT	p.I274I	DOCK4_uc003vfx.3_Silent_p.I274I|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Silent_p.I274I	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	274					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGTGCACGGTGATATAAATGT	0.433000														43			12		0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88307707	88307707	+	Silent	SNP	G	A	A	rs142829279		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:88307707G>A	uc011lte.2	-	1	277	c.210C>T	c.(208-210)atC>atT	p.I70I	AGTPBP1_uc011ltd.2_Silent_p.I18I|AGTPBP1_uc010mqc.3_Silent_p.I18I	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	18					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GGAGTCCTACGATCCTAGAAT	0.383000														63			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179552902	179552902	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179552902G>A	uc021vsy.1	-	123	28740	c.28515C>T	c.(28513-28515)tcC>tcT	p.S9505S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S6166S|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10432							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)			AAACTGAAATGGACACACCTT	0.393000														139			54		0	0	1	0	0
SLC17A9	63910	broad.mit.edu	37	20	61596512	61596512	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61596512C>T	uc002yea.4	+	8	1123	c.939C>T	c.(937-939)ctC>ctT	p.L313L	SLC17A9_uc002ydz.4_Silent_p.L307L|SLC17A9_uc011aap.1_Silent_p.L333L	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	313					exocytosis|transmembrane transport	integral to membrane	transporter activity	p.K312T(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TGCGGAAGCTCATGCAGGTAG	0.577000														42			21		0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156498719	156498719	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156498719G>A	uc001fpf.3	-	34	4635	c.4560C>T	c.(4558-4560)gcC>gcT	p.A1520A		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1520					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGAGTCGGGGGCCAGGTGGT	0.572000														69			17		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641670	57641670	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57641670G>A	uc002qny.3	+	3	1983	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	USP29_uc021vci.1_Missense_Mutation_p.E543K	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	543					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			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)		TTATTGCAATGAAAGCACCAA	0.418000														171			77		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86940712	86940712	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:86940712C>T	uc002blz.1	+	16	2432	c.2352C>T	c.(2350-2352)ctC>ctT	p.L784L		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	784					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						TGGCTAGGCTCTTGAGGGAAA	0.517000														138			32		0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193847	28193847	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:28193847C>T	uc003adj.3	-	0	3640	c.2685G>A	c.(2683-2685)ggG>ggA	p.G895G		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	895							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGCTACTGGTCCCGGACGGGC	0.711000			T	ETV6	"""AML, meningioma"""									20			9		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4832520	4832520	+	Silent	SNP	C	T	T	rs151154079		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:4832520C>T	uc001alm.1	+	3	1479	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P	AJAP1_uc001aln.3_Silent_p.P366P	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	366	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CATCTGTGCCCGTGTACACCG	0.592000														28			15		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130778016	130778016	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:130778016G>A	uc003ysr.3	-	3	1310	c.428C>T	c.(427-429)tCa>tTa	p.S143L		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	143						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTTCAGAAATGATGGCTCTGG	0.502000														44			19		0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57866755	57866755	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57866755C>T	uc010etw.3	+	2	665	c.277C>T	c.(277-279)Cct>Tct	p.P93S	ZNF304_uc010ygw.2_Intron|ZNF304_uc010etx.3_Intron	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGGGCATGGCCCTGCTGAATG	0.522000														50			13		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30962216	30962216	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:30962216C>T	uc003tbv.2	+	2	697	c.587C>T	c.(586-588)tCc>tTc	p.S196F	FAM188B_uc011kac.1_Missense_Mutation_p.S256F|FAM188B_uc010kwf.1_Missense_Mutation_p.S113F|FAM188B_uc010kwh.1_Missense_Mutation_p.S145F|FAM188B_uc022abh.1_Missense_Mutation_p.S81F	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0								p.M196I(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGCTCGGTCCTTTGGCTCC	0.567000														263			97		0	0	1	0	0
HSPB8	26353	broad.mit.edu	37	12	119631578	119631578	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:119631578C>T	uc001txb.3	+	2	1029	c.506C>T	c.(505-507)cCc>cTc	p.P169L		NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	Homo sapiens heat shock 22kDa protein 8 (HSPB8), mRNA.	169					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCGAAGCTCCCCAGGTCCCT	0.517000														81			36		0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151339220	151339220	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151339220G>A	uc010pcy.2	-	5	898	c.768C>T	c.(766-768)ttC>ttT	p.F256F	SELENBP1_uc001exx.3_Silent_p.F214F|SELENBP1_uc010pcz.2_Silent_p.F152F|SELENBP1_uc001eya.3_Silent_p.F150F	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	214					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCGGGGTTGAAGCCATCTC	0.582000														146			50		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39068823	39068823	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39068823C>T	uc002oit.3	+	98	14473	c.14343C>T	c.(14341-14343)ttC>ttT	p.F4781F	RYR1_uc002oiu.3_Silent_p.F4776F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4781					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.F4781F(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCTGGAAGTTCGGGGTCATCT	0.607000														34			5		0	0	1	0	0
ADPRH	141	broad.mit.edu	37	3	119305206	119305206	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:119305206C>T	uc003ecs.3	+	3	671	c.373C>T	c.(373-375)Cat>Tat	p.H125Y	ADPRH_uc010hqv.3_Missense_Mutation_p.H125Y|ADPRH_uc011bjb.2_Missense_Mutation_p.H18Y|ADPRH_uc003ect.3_Missense_Mutation_p.H125Y	NM_001125	NP_001116	P54922	ADPRH_HUMAN	Homo sapiens ADP-ribosylarginine hydrolase (ADPRH), mRNA.	125					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CTTCAACAGCCATGAGGGCGG	0.607000														139			64		0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25121451	25121451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:25121451C>T	uc003abd.1	-	16	2485	c.2068G>A	c.(2068-2070)Gga>Aga	p.G690R	PIWIL3_uc011ajx.1_Missense_Mutation_p.G572R|PIWIL3_uc010gut.1_Missense_Mutation_p.G681R|PIWIL3_uc011ajy.1_Missense_Mutation_p.G572R	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	690	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGCTCTTCTCCTGTTTTCTGG	0.433000														137			9		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272026	52272026	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52272026C>T	uc002pxr.3	+	1	160	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	FPR2_uc002pxs.4_Missense_Mutation_p.L39F|FPR2_uc010epf.3_Missense_Mutation_p.L39F|FPR2_uc021uyp.1_Missense_Mutation_p.L39F	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	39					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.L39F(2)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CACCTTTGTCCTCGGGGTCCT	0.552000														77			23		0	0	1	0	0
INSIG1	3638	broad.mit.edu	37	7	155094485	155094485	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:155094485C>T	uc003wly.3	+	4	944	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	INSIG1_uc003wlz.3_Silent_p.F147F|INSIG1_uc011kvu.2_Missense_Mutation_p.R93C	NM_005542	NP_005533	O15503	INSI1_HUMAN	Homo sapiens insulin induced gene 1 (INSIG1), transcript variant 1, mRNA.	245					ER-nuclear sterol response pathway|cell proliferation	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCTATATTCGTTCTTGGCT	0.418000														112			58		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27206694	27206694	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:27206694C>T	uc011lno.2	+	13	2792	c.2350C>T	c.(2350-2352)Caa>Taa	p.Q784*	TEK_uc003zqi.4_Nonsense_Mutation_p.Q827*|TEK_uc011lnp.2_Nonsense_Mutation_p.Q679*|TEK_uc003zqj.1_Nonsense_Mutation_p.Q761*	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	827					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CATCAAATTTCAAGATGTGAT	0.453000														45			9		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156915384	156915384	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156915384C>T	uc003lwz.3	-	20	2518	c.2439G>A	c.(2437-2439)agG>agA	p.R813R	ADAM19_uc003lww.2_Silent_p.R546R|ADAM19_uc003lwy.3_Silent_p.R412R|ADAM19_uc011ddr.1_Silent_p.R744R	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	813					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCTAGCAGCCCTGCTCAGGT	0.652000														79			35		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176853515	176853515	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176853515C>T	uc001glc.3	-	18	3398	c.3186G>A	c.(3184-3186)gaG>gaA	p.E1062E	ASTN1_uc001glb.1_Silent_p.E1062E|ASTN1_uc001gld.1_Silent_p.E1062E	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1070	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGTGACTTTCTCTTGACGGA	0.507000														75			30		0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158528282	158528282	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:158528282G>A	uc003wob.1	-	19	2564	c.2498C>T	c.(2497-2499)tCg>tTg	p.S833L	ESYT2_uc003wny.1_Non-coding_Transcript|ESYT2_uc003wnz.1_Missense_Mutation_p.S272L|ESYT2_uc003woa.1_Missense_Mutation_p.S410L	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	Homo sapiens extended synaptotagmin-like protein 2 (ESYT2), mRNA.	861	C2 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TTCTGGTAACGAAACACTGAA	0.438000														124			56		0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52825556	52825556	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52825556C>T	uc010ydl.2	+	4	1123	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A	ZNF480_uc002pyv.3_Silent_p.A274A|ZNF480_uc010ydm.2_Silent_p.A308A|ZNF480_uc010epn.3_Silent_p.A182A|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GTGGCAAGGCCTTCTATAGGA	0.378000														68			29		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960618	73960618	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73960618C>T	uc004eby.3	-	2	4391	c.3774G>A	c.(3772-3774)ttG>ttA	p.L1258L		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1258					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						TACATTCAGCCAATGTCTTCC	0.507000														4			19		0	0	1	0	0
CCT7	10574	broad.mit.edu	37	2	73476202	73476202	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:73476202C>T	uc002siz.3	+	7	1010	c.867C>T	c.(865-867)gtC>gtT	p.V289V	CCT7_uc010yrf.2_Silent_p.V245V|CCT7_uc010yrh.2_Silent_p.V161V|CCT7_uc010yrg.2_Silent_p.V189V|CCT7_uc010yri.2_Silent_p.V202V|CCT7_uc002sja.3_Silent_p.V85V	NM_006429	NP_001159757	Q99832	TCPH_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA.	289					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CCAAAGTTGTCTTGTCCAAAC	0.483000														58			19		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111779739	111779739	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:111779739G>A	uc001tsa.2	+	20	3695	c.3541G>A	c.(3541-3543)Gag>Aag	p.E1181K		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1181						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CGAGGAGAAGGAGGCACTGCG	0.642000														89			7		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149456979	149456979	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149456979G>A	uc003lrl.3	-	4	944	c.749C>T	c.(748-750)tCt>tTt	p.S250F	CSF1R_uc011dcd.2_Missense_Mutation_p.S102F|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.S250F|CSF1R_uc011dce.1_Missense_Mutation_p.S250F|CSF1R_uc011dcf.2_Missense_Mutation_p.S250F	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	250	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ATGAAAGTCAGATTGTTGAGG	0.463000														130			46		0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65026653	65026653	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:65026653G>A	uc002jft.2	+	3	565	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA.	173					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	p.E173G(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CAAGCGGGACGAAGACAAAAA	0.512000														110			43		0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10798340	10798340	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10798340C>T	uc002mpn.3	+	17	2695	c.2378C>T	c.(2377-2379)cCc>cTc	p.P793L	ILF3_uc002mpo.3_Missense_Mutation_p.P797L|ILF3_uc002mpq.3_Missense_Mutation_p.P96S	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	793	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TACAACTCTCCCGGGGGCGGG	0.602000														44			14		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17015315	17015315	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17015315C>T	uc002nfb.3	-	30	4248	c.4216G>A	c.(4216-4218)Ggc>Agc	p.G1406S	CPAMD8_uc002nfd.1_5'Flank	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1359						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGAATGTGCCCTTGTCCACG	0.582000														74			33		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77171000	77171000	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:77171000C>T	uc010xfg.2	+	1	1178	c.725C>T	c.(724-726)cCc>cTc	p.P242L	NFATC1_uc002lnc.1_Missense_Mutation_p.P242L|NFATC1_uc010xff.1_Missense_Mutation_p.P242L|NFATC1_uc002lnd.3_Missense_Mutation_p.P242L|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.P242L|NFATC1_uc010xfi.1_Missense_Mutation_p.P229L|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.P229L|NFATC1_uc002lng.3_Missense_Mutation_p.P229L|NFATC1_uc010xfk.2_Missense_Mutation_p.P229L	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	242	3 X SP repeats.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TCCACCTCGCCCCGCGCCAGC	0.711000														39			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088839	9088839	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9088839G>A	uc002mkp.3	-	0	3180	c.2976C>T	c.(2974-2976)ctC>ctT	p.L992L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	992	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						CAGTAGCAGAGAGAGAAGTGG	0.473000														221			76		0	0	1	0	0
CCDC36	339834	broad.mit.edu	37	3	49292849	49292849	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49292849G>A	uc003cwk.2	+	8	946	c.559G>A	c.(559-561)Gac>Aac	p.D187N	CCDC36_uc011bck.1_Missense_Mutation_p.D187N	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	Homo sapiens coiled-coil domain containing 36 (CCDC36), transcript variant 1, mRNA.	187										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		GGCCCAGAATGACCTGGTGTT	0.453000														96			42		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87757920	87757920	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87757920C>T	uc003ujn.3	+	8	897	c.682C>T	c.(682-684)Cgt>Tgt	p.R228C	ADAM22_uc003uji.2_Missense_Mutation_p.R227C|ADAM22_uc003ujj.2_Missense_Mutation_p.R228C|ADAM22_uc003ujk.2_Missense_Mutation_p.R228C|ADAM22_uc003ujl.2_Missense_Mutation_p.R228C|ADAM22_uc003ujm.3_Missense_Mutation_p.R228C|ADAM22_uc003ujo.3_Missense_Mutation_p.R228C|ADAM22_uc003ujp.1_Missense_Mutation_p.R280C	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	228					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GTTACAGCTTCGTCGATATCC	0.368000														80			38		0	0	1	0	0
SLC35F2	54733	broad.mit.edu	37	11	107673741	107673741	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:107673741G>A	uc001pjq.3	-	6	1346	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	SLC35F2_uc010rvu.2_Silent_p.L161L	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	Homo sapiens solute carrier family 35, member F2 (SLC35F2), mRNA.	309					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		TAGCCAAACAGAAAGAGTCCA	0.413000														58			22		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46729621	46729621	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46729621C>T	uc003cqa.2	-	2	462	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.R90Q	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	90					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GTCAGCACCTCGCAGCAGCAG	0.612000														50			7		0	0	1	0	0
VGLL2	245806	broad.mit.edu	37	6	117586980	117586980	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:117586980C>T	uc003pxn.3	+	0	260	c.54C>T	c.(52-54)ttC>ttT	p.F18F	VGLL2_uc003pxo.3_Silent_p.F18F	NM_182645	NP_872586	Q8N8G2	VGLL2_HUMAN	Homo sapiens vestigial like 2 (Drosophila) (VGLL2), transcript variant 1, mRNA.	18					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		AGCCCTACTTCGCAGCCGCCT	0.577000														21			11		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595313	55595313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55595313G>A	uc001nhy.1	+	0	619	c.619G>A	c.(619-621)Gag>Aag	p.E207K		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E207D(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CACTTTGAATGAGAGTGTTAC	0.473000										HNSCC(27;0.073)				155			60		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160873224	160873224	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:160873224C>T	uc002ube.2	-	9	1665	c.1453_splice	c.e9-1	p.E485_splice	PLA2R1_uc010zcp.2_Splice_Site_p.E485_splice|PLA2R1_uc002ubf.3_Splice_Site_p.E485_splice	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	485	C-type lectin 2.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AGTGTCCCTCCTACGGAGAAA	0.378000														57			17		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108359225	108359225	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:108359225C>T	uc003ymn.3	-	1	866	c.398G>A	c.(397-399)aGc>aAc	p.S133N	ANGPT1_uc003ymo.3_Missense_Mutation_p.S133N	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	133					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.T132I(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AGAGAGGAGGCTGGTTCCTAT	0.498000														88			39		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11700964	11700964	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11700964C>T	uc002gne.3	+	42	8342	c.8274C>T	c.(8272-8274)caC>caT	p.H2758H	DNAH9_uc010coo.3_Silent_p.H2052H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2758					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGTATTGTCACTTTGCAAATG	0.493000														32			17		0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111343190	111343190	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:111343190C>T	uc003dxw.3	+	10	1478	c.1308C>T	c.(1306-1308)tcC>tcT	p.S436S	CD96_uc003dxx.3_Silent_p.S420S|CD96_uc010hpy.1_Silent_p.S420S	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	436	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane		p.S436T(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CCAGCAATTCCAGTATGACTA	0.393000									Opitz Trigonocephaly syndrome					87			25		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43708292	43708292	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43708292G>A	uc002ovy.3	-	1	278	c.176C>T	c.(175-177)cCc>cTc	p.P59L	PSG4_uc002ovz.3_Missense_Mutation_p.P59L|PSG4_uc002owb.3_Missense_Mutation_p.P59L	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	59	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AAGATTCTGGGGCAAATTGTG	0.443000														347			30		0	0	1	0	0
SLC16A3	9123	broad.mit.edu	37	17	80193902	80193902	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:80193902G>A	uc002kea.3	+	1	168	c.18G>A	c.(16-18)gtG>gtA	p.V6V	SLC16A3_uc021ufm.1_Silent_p.V6V|SLC16A3_uc002keb.3_Silent_p.V6V|SLC16A3_uc002kec.3_Silent_p.V6V|SLC16A3_uc002ked.3_Silent_p.V6V|SLC16A3_uc021ufn.1_Silent_p.V6V|SLC16A3_uc021ufo.1_Silent_p.V6V	NM_001042422	NP_004198	O15427	MOT4_HUMAN	Homo sapiens solute carrier family 16, member 3 (monocarboxylic acid transporter 4) (SLC16A3), transcript variant 2, mRNA.	6					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	GGGCCGTGGTGGACGAGGGCC	0.672000														21			12		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043912	20043912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20043912G>A	uc002dgu.1	-	1	369	c.207C>T	c.(205-207)ctC>ctT	p.L69L	GPR139_uc010vaw.1_5'UTR	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	69						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CGGCAGCAGCGAGTGCCAAGA	0.473000														33			17		0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20081589	20081589	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:20081589C>T	uc010nfo.2	-	2	432	c.315G>A	c.(313-315)gaG>gaA	p.E105E	MAP7D2_uc011mji.2_Silent_p.E61E|MAP7D2_uc004czr.2_Silent_p.E105E|MAP7D2_uc011mjj.2_Silent_p.E105E|MAP7D2_uc004czs.1_Silent_p.E61E	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	105										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TCTTTTGGTCCTCCCGCTGCC	0.577000														21			31		0	0	1	0	0
TLE6	79816	broad.mit.edu	37	19	2989206	2989206	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:2989206C>T	uc002lwt.2	+	11	997	c.888C>T	c.(886-888)agC>agT	p.S296S	TLE6_uc002lwu.2_Silent_p.S173S	NM_001143986	NP_079036	Q9H808	TLE6_HUMAN	Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA.	173					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		CCATCAGCAGCTTCACGCGGC	0.617000														34			13		0	0	1	0	0
TICAM1	148022	broad.mit.edu	37	19	4817564	4817564	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4817564G>A	uc002mbi.3	-	1	1077	c.826C>T	c.(826-828)Ccc>Tcc	p.P276S	TICAM1_uc021unj.1_Missense_Mutation_p.P276S	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	276	Pro-rich.				I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB 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 kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCCACTTCGGGAAGCCCAGGA	0.662000														28			16		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89985834	89985834	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89985834G>A	uc003kju.3	+	29	6743	c.6647G>A	c.(6646-6648)gGg>gAg	p.G2216E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2216					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCCAGACTAGGGGCTTTAACA	0.393000														7			6		0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116744716	116744716	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:116744716G>A	uc001ppy.3	-	11	1346	c.1310C>T	c.(1309-1311)cCc>cTc	p.P437L	SIK3_uc001ppz.3_Missense_Mutation_p.P336L|SIK3_uc001pqa.3_Missense_Mutation_p.P389L	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	437						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TGGAGCCTGGGGGTTGACTCC	0.468000														100			31		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143748099	143748099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143748099C>T	uc011ktw.2	+	0	605	c.605C>T	c.(604-606)gCt>gTt	p.A202V		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	202			A -> S (in dbSNP:rs6464573).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATCTTTGCTGCTTCAGTGTTC	0.582000														219			37		0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81422098	81422098	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:81422098C>T	uc001xvd.1	+	0	230	c.74C>T	c.(73-75)tCg>tTg	p.S25L	CEP128_uc001xva.1_Intron|TSHR_uc001xvb.1_Missense_Mutation_p.S25L|TSHR_uc001xvc.3_Missense_Mutation_p.S25L|TSHR_uc010tvs.2_Missense_Mutation_p.S25L	NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	25					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ATGGGGTGTTCGTCTCCACCC	0.607000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							99			42		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181689429	181689429	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181689429C>T	uc009wxt.3	+	13	2034	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F	CACNA1E_uc001gow.3_Silent_p.F613F|CACNA1E_uc009wxs.3_Silent_p.F613F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	613					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						TCTTCCTCTTCATCGTTGTCT	0.473000														28			12		0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3746449	3746449	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3746449G>A	uc001aky.2	-	13	2308	c.1949C>T	c.(1948-1950)cCa>cTa	p.P650L	CEP104_uc010nzm.1_Non-coding_Transcript	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	650						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GCTGTCGTCTGGAGGAAGGTA	0.488000														171			22		0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187333	123187333	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:123187333C>T	uc001ucx.1	-	0	572	c.498G>A	c.(496-498)aaG>aaA	p.K166K	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	166					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	GGATCGGCATCTTCTTCTTCA	0.537000														66			23		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238277483	238277484	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:238277483_238277484GG>AA	uc002vwl.2	-	9	4907_4908	c.4622_4623CC>TT	c.(4621-4623)ccc>cTT	p.P1541L	COL6A3_uc002vwo.2_Missense_Mutation_p.P1335L|COL6A3_uc010znj.1_Missense_Mutation_p.P934L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1541	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCAGGTGTTGGGGCACCCCGTC	0.574000														88			40		0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	938710	938710	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:938710C>T	uc003sjo.4	-	9	1249	c.1056G>A	c.(1054-1056)caG>caA	p.Q352Q	ADAP1_uc003sjm.4_Silent_p.Q178Q|ADAP1_uc011jvs.2_Silent_p.Q257Q|ADAP1_uc003sjn.4_Silent_p.Q280Q|ADAP1_uc010ksc.3_Silent_p.Q280Q	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	352	PH 2.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						CCACCGCCTTCTGGAAGGCCG	0.687000														54			18		0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29430158	29430158	+	Silent	SNP	C	T	T	rs144363872	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29430158C>T	uc003nmi.3	+	2	1055	c.612C>T	c.(610-612)ttC>ttT	p.F204F	OR2H1_uc003nmj.1_Silent_p.F204F|OR2H1_uc010jri.2_Silent_p.F126F|OR2H1_uc021ytr.1_Silent_p.F204F	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GTGTCATCTTCGTGGTTGTGC	0.502000														168			67		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107013108	107013108	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:107013108C>T	uc021ser.1	-	218		c.8768G>A								Parts of antibodies, mostly variable regions.																		CACTCCAGCCCCTTCCCTGGA	0.522000														110			25		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140779772	140779772	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140779772C>T	uc003lkf.2	+	0	2078	c.2078C>T	c.(2077-2079)gCc>gTc	p.A693V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.A693V|PCDHGC5_uc011dax.2_5'Flank|PCDHGC5_uc003lkh.2_5'Flank	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	699					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)			GTGGCCTTGGCCTTGATCTCA	0.617000														265			47		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43496117	43496117	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43496117A>T	uc002zag.1	+	1	80	c.80A>T	c.(79-81)aAa>aTa	p.K27I	UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zaf.1_Missense_Mutation_p.K27I|AX748362_uc002zah.1_Non-coding_Transcript	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	27						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTTTCAGAAAAAGGCCTCTCC	0.567000														155			74		0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144620343	144620343	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144620343G>A	uc003yyd.2	-	1	1223	c.1194C>T	c.(1192-1194)gcC>gcT	p.A398A		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	398					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCTTGCTGCTGGCCTCCGACT	0.642000														71			21		0	0	1	0	0
HOXC10	3226	broad.mit.edu	37	12	54379110	54379110	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54379110G>A	uc001sen.3	+	0	165	c.67G>A	c.(67-69)Gag>Aag	p.E23K		NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	Homo sapiens homeobox C10 (HOXC10), mRNA.	23					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CGGCGGAGGAGAGCGCTATAG	0.587000														100			46		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140389325	140389325	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140389325G>A	uc003lii.3	+	3	3432	c.2827G>A	c.(2827-2829)Gac>Aac	p.D943N	PCDHAC2_uc003lha.2_Missense_Mutation_p.D622N|PCDHAC2_uc003lhb.2_Missense_Mutation_p.D886N|PCDHAC2_uc003lhd.2_Missense_Mutation_p.D884N|PCDHAC2_uc003lhf.2_Missense_Mutation_p.D886N|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Missense_Mutation_p.D883N|PCDHAC2_uc003lhl.2_Missense_Mutation_p.D872N|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Missense_Mutation_p.D886N|PCDHAC2_uc003lhn.2_Missense_Mutation_p.D622N|PCDHAC2_uc003lhq.2_Missense_Mutation_p.D873N|PCDHAC2_uc003lhs.2_Missense_Mutation_p.D886N|PCDHAC2_uc003lhu.2_Missense_Mutation_p.D886N|PCDHAC2_uc003lhw.2_Missense_Mutation_p.D621N|PCDHAC2_uc003lhx.2_Missense_Mutation_p.D884N|PCDHAC2_uc003lia.2_Missense_Mutation_p.D885N|PCDHAC2_uc003lic.2_Missense_Mutation_p.D877N|PCDHAC2_uc003lif.2_Missense_Mutation_p.D886N|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Missense_Mutation_p.D899N	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	943	4 X 4 AA repeats of P-X-X-P.				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)			TGAGTTGCCCGACAAATTCAT	0.507000														97			8		0	0	1	0	0
UPK3B	80761	broad.mit.edu	37	7	76141016	76141016	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:76141016C>T	uc003ufq.3	+	1	668	c.443C>T	c.(442-444)cCg>cTg	p.P148L	UPK3B_uc003ufo.3_Missense_Mutation_p.P93L|UPK3B_uc010ldk.1_Missense_Mutation_p.P93L	NM_030570	NP_085047	Q9BT76	UPK3B_HUMAN	Homo sapiens uroplakin 3B (UPK3B), transcript variant 1, mRNA.	148					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GCTGACATTCCGGCCTCCCCA	0.647000														20			4		0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10398444	10398444	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10398444C>T	uc002mnr.2	+	1	596	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L	ICAM4_uc002mns.2_Silent_p.I209I|ICAM4_uc002mnt.2_Silent_p.I209I|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	0	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AGCCCGTGATCTGCCACGCGC	0.627000														94			9		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57430866	57430866	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57430866G>A	uc001smw.4	-	19	2305	c.2065C>T	c.(2065-2067)Ctc>Ttc	p.L689F	MYO1A_uc010sqz.2_Missense_Mutation_p.L527F|MYO1A_uc009zpd.3_Missense_Mutation_p.L689F	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	689					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGTTCTTCGAGGTAGAAAAGC	0.572000														89			21		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30350066	30350066	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:30350066G>A	uc002kxm.1	-	1	877	c.489C>T	c.(487-489)atC>atT	p.I163I		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	163						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GGATGTGCAGGATCTTGCTGA	0.622000														89			19		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756965	71756965	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:71756965G>A	uc003kce.1	-	1	545	c.359C>T	c.(358-360)cCg>cTg	p.P120L		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CTTGGGGCGCGGGGGCTGCGG	0.582000														188			74		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48762861	48762861	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:48762861C>T	uc001zwx.2	-	35	4824	c.4429G>A	c.(4429-4431)Gaa>Aaa	p.E1477K	FBN1_uc010beo.2_5'Flank	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1477	EGF-like 25; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGTCCAGTTCGTAGCCTATC	0.567000														60			28		0	0	1	0	0
GNA15	2769	broad.mit.edu	37	19	3157830	3157830	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3157830G>A	uc002lxf.2	+	5	1107	c.849G>A	c.(847-849)gaG>gaA	p.E283E		NM_002068	NP_002059	P30679	GNA15_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA.	283					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		ACATCCTGGAGGAGAAAATCC	0.488000														163			72		0	0	1	0	0
DOLK	22845	broad.mit.edu	37	9	131708608	131708608	+	Silent	SNP	G	A	A	rs149462670		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131708608G>A	uc004bwr.3	-	0	1405	c.975C>T	c.(973-975)tcC>tcT	p.S325S	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	Homo sapiens dolichol kinase (DOLK), mRNA.	325					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						TCTTGGACTCGGAAGATGACC	0.572000														150			66		0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107642209	107642209	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107642209G>A	uc003vev.2	-	0	240	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S	LAMB1_uc003vew.2_Intron|LAMB1_uc003vex.3_Intron|LAMB1_uc010ljn.1_Intron|U3_uc022ajz.1_5'Flank	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	0					axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.S27R(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAGTTGGGGGGACACAAGCA	0.612000														23			4		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76755238	76755238	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:76755238G>A	uc002lmt.3	+	1	3247	c.3247G>A	c.(3247-3249)Ggc>Agc	p.G1083S	SALL3_uc010dra.3_Missense_Mutation_p.G618S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1083					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCTGCCCGCGGGCGTCCAGGT	0.711000														12			11		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258636	25258636	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:25258636G>A	uc002dod.4	-	4	1288	c.881C>T	c.(880-882)tCc>tTc	p.S294F	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.S90F|ZKSCAN2_uc002doe.2_Missense_Mutation_p.S294F	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	294	KRAB.				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)		CTTGTTAGAGGAATGCAGACC	0.428000														94			9		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39666958	39666958	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39666958C>T	uc003xnj.3	-	6	616	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	ADAM2_uc003xnk.3_Intron|ADAM2_uc011lck.2_Missense_Mutation_p.E181K|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	181	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.E181D(1)|p.I180I(1)		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)		ACATGCATTTCTATATACTTT	0.259000														29			6		0	0	1	0	0
PPP1R36	145376	broad.mit.edu	37	14	65053926	65053926	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:65053926C>T	uc001xhl.1	+	9	822	c.726C>T	c.(724-726)ttC>ttT	p.F242F	PPP1R36_uc001xhm.1_5'UTR	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	242																	TTTATACTTTCTGTACATATG	0.388000														59			7		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196759830	196759830	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196759830G>A	uc002utj.4	-	29	4867	c.4766C>T	c.(4765-4767)tCc>tTc	p.S1589F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1589	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATCTTCTCGGAAAAGAATGC	0.368000														61			24		0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799896	212799896	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:212799896G>A	uc010pth.1	-	0		c.218C>T			FAM71A_uc001hjk.3_Silent_p.R559R			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TGGCGGAGAGGAGCACCAACG	0.552000														101			38		0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35563557	35563557	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:35563557G>A	uc002xgh.2	-	3	584	c.384C>T	c.(382-384)ctC>ctT	p.L128L		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	128					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GGAGAGGGTGGAGCTCAATGT	0.398000														77			37		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138293	126138293	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:126138293G>A	uc001uhe.1	+	8	2282	c.2274G>A	c.(2272-2274)ttG>ttA	p.L758L	TMEM132B_uc001uhf.1_Silent_p.L270L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	758						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)		AAGGGCCTTTGATTAAGTTAG	0.438000														118			18		0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67223019	67223019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67223019G>A	uc002erx.1	-	2	352	c.111C>T	c.(109-111)gcC>gcT	p.A37A	EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_5'UTR|EXOC3L1_uc010vje.1_Silent_p.A37A|EXOC3L1_uc002ery.1_Silent_p.A42A	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA.	37	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						AGATGCCTGAGGCCCACTTGA	0.682000														14			5		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477422	110477422	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110477422C>T	uc003yne.3	+	48	8465	c.8361C>T	c.(8359-8361)ggC>ggT	p.G2787G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2787					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			ACAAGGCTGGCTTTCGCTGGG	0.398000										HNSCC(38;0.096)				52			29		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186459485	186459485	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:186459485G>A	uc011bsa.2	+	9	1534	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	KNG1_uc003fqr.3_Intron|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	434	His-rich.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CTGGGGCCATGAAAAACAAAG	0.493000														54			20		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220503474	220503474	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220503474C>T	uc002vmo.4	+	18	3196	c.2987C>T	c.(2986-2988)tCg>tTg	p.S996L	SLC4A3_uc002vmp.4_Missense_Mutation_p.S969L|SLC4A3_uc010fwm.3_Missense_Mutation_p.S519L	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	969	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATAAGCGCTCGTGGTTCATC	0.602000														53			18		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743049	26743049	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:26743049A>G	uc001mra.2	-	0	526	c.213T>C	c.(211-213)ccT>ccC	p.P71P	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.4_Silent_p.P71P	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	71					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AGACTTCAGAAGGGGTCCCCA	0.522000														63			21		0	0	1	0	0
SLC22A4	6583	broad.mit.edu	37	5	131670542	131670542	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:131670542G>A	uc003kwq.3	+	6	1343	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	LOC553103_uc021ydj.1_Non-coding_Transcript	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	393					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CTGCTATTGCGAACCCTGCCC	0.473000														223			60		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532279	92532279	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92532279G>A	uc001pdj.4	+	8	6117	c.6100G>A	c.(6100-6102)Gtc>Atc	p.V2034I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2034	Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACCTCAGGGGTCATTCAGAC	0.463000										TCGA Ovarian(4;0.039)				51			22		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74593462	74593462	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:74593462C>T	uc002lmi.3	+	8	1603	c.1405C>T	c.(1405-1407)Cta>Tta	p.L469L	ZNF236_uc002lmj.3_Non-coding_Transcript|ZNF236_uc002lmk.1_Silent_p.L469L	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	469					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTCACCGTTTCTACCTGGTAA	0.388000														32			11		0	0	1	0	0
ZRANB2	9406	broad.mit.edu	37	1	71530793	71530793	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:71530793G>A	uc001dft.3	-	9	1251	c.957C>T	c.(955-957)tcC>tcT	p.S319S	ZRANB2-AS1_uc001dfr.3_Intron|ZRANB2_uc001dfs.3_3'UTR	NM_203350	NP_976225	O95218	ZRAB2_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 2 (ZRANB2), transcript variant 1, mRNA.	319	Required for nuclear targeting.				RNA splicing|mRNA processing	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						AACCAGAATGGGATGATCCAG	0.348000														61			7		0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5863040	5863040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5863040C>T	uc010qzq.2	-	0	88	c.88G>A	c.(88-90)Gga>Aga	p.G30R	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGGGAATCCAATCCAGATG	0.448000														84			33		0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17411114	17411114	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17411114G>A	uc001baf.3	-	7	1000	c.918C>T	c.(916-918)ccC>ccT	p.P306P	PADI2_uc010ocm.2_Intron|PADI2_uc001bag.1_Silent_p.P306P	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	306					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ACACCGACACGGGAGGCAGGA	0.587000														2			2		0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624347	123624347	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123624347C>T	uc010rzy.2	-	0	880	c.880G>A	c.(880-882)Gag>Aag	p.E294K		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCCTTCACCTCCTTGTTTCTA	0.403000														142			57		0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134366313	134366313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:134366313G>A	uc010hty.3	-	1	225	c.163C>T	c.(163-165)Cga>Tga	p.R55*	KY_uc011blw.2_Nonsense_Mutation_p.R55*|KY_uc011blx.2_Nonsense_Mutation_p.R55*|KY_uc003eqs.1_Nonsense_Mutation_p.R96*	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	55						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TGCCATCTTCGGACTCCATTT	0.383000														16			12		0	0	1	0	0
REEP2	51308	broad.mit.edu	37	5	137780194	137780194	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:137780194C>T	uc003lda.3	+	3	395	c.273C>T	c.(271-273)ttC>ttT	p.F91F	REEP2_uc003lcz.3_Silent_p.F91F|REEP2_uc011cyt.2_Silent_p.F52F	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	Homo sapiens receptor accessory protein 2 (REEP2), mRNA.	91						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACCGCAAGTTCGTGCACCCAA	0.587000														59			16		0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94395108	94395108	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94395108C>T	uc001ybz.2	+	2	988	c.663C>T	c.(661-663)ccC>ccT	p.P221P	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.P159P|FAM181A_uc021saz.1_Silent_p.P159P|FAM181A_uc010aus.2_Silent_p.P159P|FAM181A_uc001yca.2_Silent_p.P159P	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	221										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GACTGGGCCCCAGGGAGGGAC	0.627000														35			15		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74460664	74460664	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74460664G>A	uc002sko.1	-	17	2462	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.F820F|SLC4A5_uc010ffc.1_Silent_p.F820F|SLC4A5_uc002skp.1_Silent_p.F718F|SLC4A5_uc002sks.1_Silent_p.F782F	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	820						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGGGGCCACGAACCAGCCTC	0.622000														28			11		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474657	140474657	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140474657G>A	uc003lil.3	+	0	421	c.283G>A	c.(283-285)Gag>Aag	p.E95K	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	95	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTGGACCGGGAGGAGCTGTG	0.512000														96			28		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42482807	42482807	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42482807G>A	uc002osh.3	-	11	1735	c.1581C>T	c.(1579-1581)gcC>gcT	p.A527A	ATP1A3_uc010xwf.2_Silent_p.A538A|ATP1A3_uc010xwg.2_Silent_p.A497A|ATP1A3_uc002osg.3_Silent_p.A527A|ATP1A3_uc010xwh.2_Silent_p.A540A			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	527					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CATTCTGGAAGGCCTCCTTCA	0.662000														81			20		0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770107	112770107	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:112770107G>A	uc003kqm.2	-	0	622	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	144	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TCCTTGTCAAGGAGAAGGTTG	0.547000														41			30		0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23817773	23817773	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23817773C>T	uc001wjl.3	-	3	871	c.634G>A	c.(634-636)Gat>Aat	p.D212N	SLC22A17_uc010akk.3_Intron|SLC22A17_uc001wjm.3_Missense_Mutation_p.D212N|SLC22A17_uc001wjn.3_Intron	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	212					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AATCGCCAATCCTTAGAGACA	0.587000														112			43		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78943275	78943275	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:78943275C>T	uc001jxn.3	-	4	889	c.712G>A	c.(712-714)Gat>Aat	p.D238N	KCNMA1_uc021ptu.1_Missense_Mutation_p.D184N|KCNMA1_uc001jxj.2_Missense_Mutation_p.D238N|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Missense_Mutation_p.D58N|KCNMA1_uc001jxo.3_Missense_Mutation_p.D238N|KCNMA1_uc001jxm.3_Missense_Mutation_p.D238N|KCNMA1_uc001jxq.3_Missense_Mutation_p.D238N	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	238					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CACAATTTATCGTTGGCTGCA	0.428000														24			7		0	0	1	0	0
C3orf23	285343	broad.mit.edu	37	3	44402978	44402978	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:44402978C>T	uc003cnd.4	+	3	714	c.287C>T	c.(286-288)tCc>tTc	p.S96F	C3orf23_uc010him.3_Missense_Mutation_p.S96F|C3orf23_uc003cne.4_5'UTR	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	Homo sapiens chromosome 3 open reading frame 23 (C3orf23), transcript variant 1, mRNA.	96						mitochondrion				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		GACCAGAGTTCCTCCGATGGC	0.383000														76			11		0	0	1	0	0
CCDC169-SOHLH2	100526761	broad.mit.edu	37	13	36776042	36776042	+	Silent	SNP	C	T	T	rs144247429		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:36776042C>T	uc010tei.2	-	6	783	c.468G>A	c.(466-468)gaG>gaA	p.E156E	CCDC169-SOHLH2_uc001uvj.3_Silent_p.E79E	NM_001198910	NP_001185839	B4DX90	B4DX90_HUMAN	Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA.	156					regulation of transcription, DNA-dependent	nucleus											CTTCCAGCTCCTCGGCACTTA	0.393000														69			28		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976196	20976196	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20976196C>T	uc010vbe.2	-	52	9010	c.9010G>A	c.(9010-9012)Gga>Aga	p.G3004R	DNAH3_uc010vbd.2_Missense_Mutation_p.G439R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3004					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCCACAGTTCCTGAGGACAGC	0.537000														58			23		0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3784232	3784232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3784232C>T	uc002lyt.3	-	4	652	c.252G>A	c.(250-252)aaG>aaA	p.K84K	MATK_uc002lyv.3_Silent_p.K85K|MATK_uc002lyu.3_Silent_p.K43K|MATK_uc010dtq.3_Silent_p.K84K	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	84	SH3.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTACCAGCTCTTGTTCTGCC	0.697000														49			15		0	0	1	0	0
OXA1L	5018	broad.mit.edu	37	14	23235899	23235899	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23235899C>T	uc001wgn.2	+	0	169	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F	OXA1L_uc010tnc.2_Missense_Mutation_p.L57F|OXA1L_uc001wgp.2_5'Flank	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA.	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AGCAAGTCCTCTTCCGGGCAA	0.607000														128			57		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046763	73046763	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73046763C>T	uc004ebn.2	+	0		c.34724C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		AGCCTTGAGACTTCCATCCAA	0.488000														19			27		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450252	105450252	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:105450252C>T	uc022cca.1	+	0	827	c.827C>T	c.(826-828)tCa>tTa	p.S276L	MUM1L1_uc004emg.2_Missense_Mutation_p.S276L|MUM1L1_uc004emf.2_Missense_Mutation_p.S276L	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	276										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTGCTTTCTCAGAGAATATT	0.488000														11			9		0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8009922	8009922	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:8009922C>T	uc003gko.3	-	14	1523	c.1380G>A	c.(1378-1380)aaG>aaA	p.K460K	ABLIM2_uc003gkk.3_Silent_p.K124K|ABLIM2_uc003gkl.3_Silent_p.K188K|ABLIM2_uc003gkm.4_Silent_p.K408K|ABLIM2_uc003gkp.3_Silent_p.K419K|ABLIM2_uc003gkq.3_Silent_p.K460K|ABLIM2_uc003gkr.3_Silent_p.K409K|ABLIM2_uc003gkj.4_Silent_p.K494K|ABLIM2_uc003gks.3_Silent_p.K420K	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	460					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GCCAGCTGCTCTTCTGCTGAA	0.512000														68			13		0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36362863	36362863	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36362863G>A	uc002oce.3	+	5	913	c.775G>A	c.(775-777)Gag>Aag	p.E259K	APLP1_uc010xsz.2_Missense_Mutation_p.E220K|APLP1_uc002ocf.3_Missense_Mutation_p.E259K|APLP1_uc002ocg.3_Missense_Mutation_p.E162K|APLP1_uc010xta.2_Missense_Mutation_p.E253K	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	259					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTACTTCGTGGAGCCTCCGCA	0.622000														173			50		0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	9010979	9010979	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:9010979G>A	uc002czl.2	-	6	954	c.755C>T	c.(754-756)tCg>tTg	p.S252L	USP7_uc010uyk.1_Missense_Mutation_p.S153L|USP7_uc010uyj.1_Missense_Mutation_p.S153L|USP7_uc002czk.2_Missense_Mutation_p.S236L|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	252					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GCTTTTAGACGAATCATCCCC	0.358000														96			47		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325800	31325800	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:31325800G>A	uc010dmg.1	+	11	6043	c.5988G>A	c.(5986-5988)atG>atA	p.M1996I	ASXL3_uc002kxq.2_Missense_Mutation_p.M1703I	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1996					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.K1997fs*4(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATATGCCCATGAAAGAAGGTG	0.547000														128			10		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580591	140580592	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140580591_140580592CC>TT	uc003liy.3	+	0	1244_1245	c.1244_1245CC>TT	c.(1243-1245)gcc>gTT	p.A415V		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	415	Cadherin 4.				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)			GAGAGCACAGCCGAGTACAATA	0.495000														127			31		0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342997	29342997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29342997G>A	uc003nme.3	-	0	72	c.68C>T	c.(67-69)cCt>cTt	p.P23L		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q22K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						AAAGAAGAAAGGCTGCAGCTC	0.393000														61			8		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128681	152128681	+	Silent	SNP	C	T	T	rs112678204		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152128681C>T	uc001ezs.1	-	2	959	c.894G>A	c.(892-894)acG>acA	p.T298T		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	298	Gln-rich.					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						CTTGTCTGTCCGTCTGACCGT	0.507000														618			233		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122261582	122261582	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:122261582C>T	uc022akp.1	-	4	1479	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	CADPS2_uc003vkg.4_Missense_Mutation_p.E53K|CADPS2_uc022akq.1_Missense_Mutation_p.E353K|CADPS2_uc010lkq.3_Missense_Mutation_p.E353K|CADPS2_uc022akr.1_Missense_Mutation_p.E353K	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	353					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGCTGAATCTCATTCTCATCT	0.393000														104			34		0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58491150	58491150	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58491150G>A	uc002qqw.3	-	6	1516	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	ZNF606_uc010yhp.2_Missense_Mutation_p.H210Y	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TGTATTATATGATTGAAAGAT	0.318000														64			22		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107022182	107022182	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:107022182A>T	uc001kyi.1	+	25	3764	c.3537A>T	c.(3535-3537)aaA>aaT	p.K1179N		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1179						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACGCCCCCAAAATCACACTCA	0.507000														52			21		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74480229	74480229	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74480229G>A	uc002sko.1	-	9	1142	c.1140C>T	c.(1138-1140)gcC>gcT	p.A380A	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.A380A|SLC4A5_uc010ffc.1_Silent_p.A380A|SLC4A5_uc002skp.1_Silent_p.A316A|SLC4A5_uc002sks.1_Silent_p.A380A	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	380						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCCGATTGCGGGCTTTGTAGG	0.512000														43			19		0	0	1	0	0
FBXW11	23291	broad.mit.edu	37	5	171318532	171318532	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:171318532A>T	uc003mbm.1	-	5	1099	c.728T>A	c.(727-729)gTc>gAc	p.V243D	FBXW11_uc011dey.1_Missense_Mutation_p.V211D|FBXW11_uc003mbl.1_Missense_Mutation_p.V230D|FBXW11_uc003mbn.1_Missense_Mutation_p.V209D	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA.	243					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway|cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process	SCF ubiquitin ligase complex|centrosome|cytosol|nucleus	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TAAACAGTAGACACCTTTACT	0.373000														51			21		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584153	82584153	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82584153C>T	uc003uhx.2	-	4	6405	c.6116G>A	c.(6115-6117)aGc>aAc	p.S2039N	PCLO_uc003uhv.2_Missense_Mutation_p.S2039N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1970					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						TATCTCATGGCTTTCTGGGAT	0.388000														61			5		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10998270	10998270	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:10998270C>T	uc002yis.1	-	10		c.1983G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		CCCTTAGTTTCATCATTCACA	0.388000														190			34		0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166408671	166408671	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:166408671A>C	uc003irg.4	+	5	1332	c.1055A>C	c.(1054-1056)gAg>gCg	p.E352A		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	352					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCACCTGAAGAGACTCTGAAG	0.453000														61			20		0	0	1	0	0
RGL4	266747	broad.mit.edu	37	22	24036125	24036125	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:24036125G>A	uc002zxo.3	+	3	2133	c.876G>A	c.(874-876)agG>agA	p.R292R	GUSBP11_uc002zxh.4_5'Flank|GUSBP11_uc002zxi.4_5'Flank|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Silent_p.R292R|RGL4_uc002zxp.1_Silent_p.R156R|RGL4_uc002zxq.3_Silent_p.R156R			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	292	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CCCGGGACAGGGCCAGGGTGG	0.592000														61			27		0	0	1	0	0
TBC1D13	54662	broad.mit.edu	37	9	131559401	131559401	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131559401C>T	uc010myj.3	+	6	574	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TBC1D13_uc010myk.3_Missense_Mutation_p.P151S|TBC1D13_uc010myl.3_5'UTR	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	Homo sapiens TBC1 domain family, member 13 (TBC1D13), mRNA.	151	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CATCCTGGACCCCCAGAATGA	0.517000														108			29		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230252982	230252982	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:230252982G>A	uc002vpv.3	-	11	2002	c.1855_splice	c.e11+1	p.H619_splice		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	619					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AATACTTACGGATCTCACAGT	0.493000														117			41		0	0	1	0	0
SH2D7	646892	broad.mit.edu	37	15	78393354	78393354	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:78393354G>A	uc010blb.1	+	4	759	c.759G>A	c.(757-759)cgG>cgA	p.R253R		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	Homo sapiens SH2 domain containing 7 (SH2D7), mRNA.	253										endometrium(2)|kidney(2)|lung(3)	7						ACCAGGCACGGCTAGGCTTGG	0.607000														56			17		0	0	1	0	0
ZNF774	342132	broad.mit.edu	37	15	90904247	90904247	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90904247G>A	uc002bpk.4	+	3	1370	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	Homo sapiens zinc finger protein 774 (ZNF774), mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAGCACCAACGAATCCACACC	0.498000														68			16		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38753715	38753715	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38753715G>A	uc003ciq.3	-	21	4026	c.4026C>T	c.(4024-4026)ttC>ttT	p.F1342F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1342					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CATTGACCCAGAAGAAGCTGC	0.428000														109			44		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145303970	145303970	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:145303970C>T	uc021oul.1	+	8	1402	c.1367C>T	c.(1366-1368)tCa>tTa	p.S456L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.S456L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Missense_Mutation_p.S185L|NBPF10_uc021oum.1_5'UTR	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	456										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GTGCAGAAATCATCTGCCCCC	0.438000														353			56		0	0	1	0	0
RSL1D1	26156	broad.mit.edu	37	16	11931783	11931783	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:11931783G>A	uc002dbp.1	-	8	1407	c.1334C>T	c.(1333-1335)tCg>tTg	p.S445L	RSL1D1_uc010buv.1_Missense_Mutation_p.S444L|RSL1D1_uc010uyw.1_Missense_Mutation_p.S225L	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	445					regulation of protein localization|translation	large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						tttccccagcgaaggactttt	0.478000														281			151		0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155533028	155533028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155533028C>T	uc003ioj.3	-	3	471	c.330G>A	c.(328-330)ttG>ttA	p.L110L	FGG_uc003iog.3_Silent_p.L110L	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	110					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TCCTGGACTTCAAAGTAGCAG	0.318000														31			9		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25766052	25766052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:25766052G>A	uc003xes.2	-	6	836	c.571C>T	c.(571-573)Ctc>Ttc	p.L191F	DOCK5_uc003xek.3_Intron	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	191					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGCACTTGAGGAAAAATTTT	0.363000														66			7		0	0	1	0	0
MYL4	4635	broad.mit.edu	37	17	45299052	45299052	+	Missense_Mutation	SNP	G	A	A	rs138156448		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:45299052G>A	uc002ilg.3	+	4	446	c.318G>A	c.(316-318)atG>atA	p.M106I	MYL4_uc002ilh.3_Missense_Mutation_p.M106I	NM_001002841	NP_002467	P12829	MYL4_HUMAN	Homo sapiens myosin, light chain 4, alkali; atrial, embryonic (MYL4), transcript variant 1, mRNA.	106					cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CTGAAGAGATGAATGTCAAGA	0.547000														55			48		0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109844602	109844602	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:109844602G>A	uc010sxn.1	+	7	924	c.924G>A	c.(922-924)ggG>ggA	p.G308G		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AGCTCCTGGGGGTCCACCCAT	0.438000														57			21		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207669671	207669671	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207669671C>T	uc001hfy.3	+	0	199	c.59C>T	c.(58-60)cCc>cTc	p.P20L	CR1_uc009xcl.1_Missense_Mutation_p.P20L|CR1_uc001hfx.3_Missense_Mutation_p.P20L|CR1_uc021pij.1_Missense_Mutation_p.P20L|CR1_uc010psg.1_Missense_Mutation_p.P20L|CR1_uc009xcj.1_Missense_Mutation_p.P20L|CR1_uc009xck.1_Missense_Mutation_p.P20L	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	20					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCCGGTCTCCCCTTCTGCTGC	0.682000														28			17		0	0	1	0	0
RIMKLA	284716	broad.mit.edu	37	1	42875687	42875687	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:42875687C>T	uc001chi.2	+	3	652	c.514C>T	c.(514-516)Cac>Tac	p.H172Y		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA.	172	ATP-grasp.				protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						AGATAAACATCACCTCTCTGA	0.498000														185			57		0	0	1	0	0
DCTN3	11258	broad.mit.edu	37	9	34614060	34614060	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:34614060G>A	uc003zux.1	-	5	485	c.450C>T	c.(448-450)ctC>ctT	p.L150L	RPP25L_uc003zuu.3_5'Flank|RPP25L_uc003zuv.3_5'Flank|RPP25L_uc022bgh.1_5'Flank|DCTN3_uc003zuw.1_3'UTR	NM_007234	NP_009165	O75935	DCTN3_HUMAN	Homo sapiens dynactin 3 (p22) (DCTN3), transcript variant 1, mRNA.	150					G2/M transition of mitotic cell cycle|cytokinesis|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity			large_intestine(1)|skin(1)	2	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		ATTCCTCCAGGAGAGCCTTGG	0.498000														70			36		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43439821	43439821	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43439821G>A	uc002ovl.4	-	1	267	c.165C>T	c.(163-165)gtC>gtT	p.V55V	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	55	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				GCAAATTGTGGACAAGTAGAA	0.453000														204			105		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142458111	142458111	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:142458111G>A	uc003ywi.2	-	20	2796	c.2715C>T	c.(2713-2715)ttC>ttT	p.F905F	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	905							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGAGGGCCAGGAAGAGCTTGG	0.667000														8			7		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038256	75038256	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75038256C>T	uc001dgg.3	-	13	3357	c.3138G>A	c.(3136-3138)agG>agA	p.R1046R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1046	Glu-rich.							p.R1046S(2)		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						AAATTTCTTTCCTATCATCTT	0.453000														224			56		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233388106	233388106	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233388106C>T	uc001hvl.2	-	6	2357	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript|PCNXL2_uc001hvq.1_Missense_Mutation_p.E7K	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	708						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)				TCACCATGTTCATCAATGAAG	0.418000														54			18		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65499330	65499330	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65499330C>T	uc002aon.2	-	3	395	c.214G>A	c.(214-216)Gag>Aag	p.E72K		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	72					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCCAGCCGCTCATAGTCGCCC	0.612000														21			21		0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106461006	106461006	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:106461006C>T	uc001tlj.1	-	6	2940	c.1560G>A	c.(1558-1560)cgG>cgA	p.R520R		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	520							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGCCCTTCCTCCGGCAGGAGA	0.612000														59			19		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248005100	248005100	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248005100G>A	uc001idn.1	-	0	99	c.99C>T	c.(97-99)ctC>ctT	p.L33L		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCAGTAGATGAGCAGGAAAA	0.498000														38			14		0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230916267	230916267	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:230916267C>T	uc001htz.1	+	10	1407	c.1294C>T	c.(1294-1296)Ctg>Ttg	p.L432L	CAPN9_uc009xfg.1_Silent_p.L369L|CAPN9_uc001hua.1_Silent_p.L406L	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	432	Domain III.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				AGACGAACACCTGAACAAAGA	0.522000														99			36		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080850	54080850	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54080850G>A	uc002qbx.1	+	6	2470	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	ZNF331_uc002qby.1_Missense_Mutation_p.E346K|ZNF331_uc002qbz.1_Missense_Mutation_p.E346K|ZNF331_uc010eqr.1_Missense_Mutation_p.E346K|ZNF331_uc002qca.1_Missense_Mutation_p.E346K|ZNF331_uc021uzg.1_Missense_Mutation_p.E346K|ZNF331_uc021uzh.1_Missense_Mutation_p.E346K|ZNF331_uc002qcb.1_Missense_Mutation_p.E346K|ZNF331_uc002qcc.1_Missense_Mutation_p.E346K|ZNF331_uc002qcd.1_Missense_Mutation_p.E346K	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E346K(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CGTTAAGCACGAGAGGATACA	0.527000			T	?	follicular thyroid adenoma									51			21		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14752664	14752664	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:14752664G>A	uc010dlo.2	+	1	501	c.321G>A	c.(319-321)agG>agA	p.R107R	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Silent_p.R107R	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	107										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GCGAAGGGAGGACACCTCTGA	0.413000														8			3		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86487924	86487924	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:86487924G>A	uc001dlj.3	-	18	2331	c.2256_splice	c.e18+1	p.S752_splice	COL24A1_uc010osf.2_Splice_Site|COL24A1_uc010osd.2_Splice_Site_p.S52_splice|COL24A1_uc001dlk.3_Splice_Site|COL24A1_uc010ose.2_Splice_Site	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	752	Collagen-like 4.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAAACCTACTGAAGGCCCTGA	0.433000														56			25		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43986097	43986097	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:43986097C>T	uc003bdy.2	-	23	3203	c.2889G>A	c.(2887-2889)atG>atA	p.M963I	EFCAB6_uc003bdz.2_Missense_Mutation_p.M811I|EFCAB6_uc010gzi.2_Missense_Mutation_p.M811I|EFCAB6_uc010gzj.1_Missense_Mutation_p.M189I	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	963					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GATGGCGGTCCATAAGCTTAT	0.383000														82			32		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1247914	1247914	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1247914G>A	uc001lta.3	+	3	328	c.269G>A	c.(268-270)gGc>gAc	p.G90D	MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Missense_Mutation_p.G90D	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	90	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCTTCGACGGCGACGTCTTC	0.647000														25			7		0	0	1	0	0
C8orf31	286122	broad.mit.edu	37	8	144126132	144126132	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144126132G>A	uc003yxp.1	+	3	605	c.253G>A	c.(253-255)Gac>Aac	p.D85N	C8orf31_uc003yxq.1_Non-coding_Transcript|C8orf31_uc003yxr.1_Non-coding_Transcript	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN	Homo sapiens chromosome 8 open reading frame 31 (C8orf31), mRNA.	85										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGGAGACACAGACCCCATCCA	0.627000														56			16		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312163	48312163	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48312163C>T	uc003toq.2	+	16	2924	c.2900C>T	c.(2899-2901)tCa>tTa	p.S967L	ABCA13_uc010kyr.2_Missense_Mutation_p.S470L|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	967					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTTATTCTTCATTTTACCGA	0.308000														51			27		0	0	1	0	0
SLC15A4	121260	broad.mit.edu	37	12	129283928	129283928	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:129283928G>A	uc001uhu.2	-	6	1502	c.1449C>T	c.(1447-1449)tcC>tcT	p.S483S	SLC15A4_uc001uhv.2_Non-coding_Transcript	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	Homo sapiens solute carrier family 15, member 4 (SLC15A4), mRNA.	483					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		CACTCTGCATGGACTTGGGGG	0.502000														65			7		0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156395948	156395948	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:156395948C>T	uc003fav.3	+	1	884	c.462C>T	c.(460-462)tcC>tcT	p.S154S	TIPARP-AS1_uc011boq.2_5'Flank|TIPARP_uc003faw.3_Silent_p.S154S|TIPARP_uc021xgg.1_Silent_p.S154S	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	154							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGGCAGATTCCACACCAGCTC	0.488000														145			59		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651597	8651597	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8651597C>T	uc002mkj.1	-	19	2522	c.2248G>A	c.(2248-2250)Gga>Aga	p.G750R	ADAMTS10_uc002mki.1_Missense_Mutation_p.G237R|ADAMTS10_uc002mkk.1_Missense_Mutation_p.G382R	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	750	Spacer.				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						TCCTGGTCTCCCTTCAGGGCT	0.637000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		87			38		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7637888	7637888	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7637888C>T	uc002giu.1	+	5	854	c.840C>T	c.(838-840)ttC>ttT	p.F280F	DNAH2_uc002git.3_Silent_p.F280F|DNAH2_uc010vuk.2_Silent_p.F280F	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	280	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGATTGAGTTCTGGCGCAACC	0.537000														21			27		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21086851	21086851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21086851C>T	uc010vbe.2	-	20	3001	c.3001G>A	c.(3001-3003)Gaa>Aaa	p.E1001K		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1001	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGAGAGTATTCCTTGCTGGCA	0.463000														67			18		0	0	1	0	0
STAP1	26228	broad.mit.edu	37	4	68424575	68424575	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:68424575G>A	uc003hde.4	+	0	130	c.48G>A	c.(46-48)caG>caA	p.Q16Q	STAP1_uc003hdf.3_Silent_p.Q16Q	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	16					cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GGATCTTCCAGGAAAGGTTAA	0.423000														121			50		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94502338	94502338	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94502338G>A	uc001dqh.3	-	25	3924	c.3820C>T	c.(3820-3822)Ctg>Ttg	p.L1274L		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1274					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)		GTGACCTTCAGAAAAATCTGT	0.428000														153			24		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48603334	48603334	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48603334G>A	uc010wmr.2	+	13	2166	c.2004G>A	c.(2002-2004)ggG>ggA	p.G668G	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	631					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCAGGCCAGGGGACAAGGAGC	0.597000														143			38		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159166837	159166837	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159166837C>T	uc001ftl.2	+	6	1118	c.939C>T	c.(937-939)acC>acT	p.T313T	CADM3_uc009wsy.1_Silent_p.T267T|CADM3_uc001ftk.2_Silent_p.T347T|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	313	Ig-like C2-type 2.				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)					CCTACTACACCCTCAATGTTA	0.488000														73			27		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100609643	100609643	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100609643T>G	uc003uxl.1	+	7	2875	c.2075T>G	c.(2074-2076)gTg>gGg	p.V692G	AK096803_uc003uxm.1_5'Flank|AK096803_uc003uxn.1_Non-coding_Transcript|MUC3A_uc010lhn.1_Intron					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GCGCTGCTGGTGCTGCTGCTG	0.791000														2			3		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139727187	139727187	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:139727187G>A	uc003vvl.1	-	9	2391	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	506	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CTCTTCCGAGGAAGAACTAAG	0.448000														100			43		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90500477	90500477	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90500477C>T	uc004app.4	+	3	1110	c.1075C>T	c.(1075-1077)Cct>Tct	p.P359S	FAM75E1_uc004apo.1_Missense_Mutation_p.P171S	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	359						integral to membrane											ATTCATCCACCCTGACGTGCA	0.582000														67			6		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949407	89949407	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89949407C>T	uc003kju.3	+	19	4112	c.4016C>T	c.(4015-4017)aCt>aTt	p.T1339I	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1339					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCATTTGGGACTGTTAATCCA	0.448000														25			13		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53045593	53045593	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53045593C>T	uc001sat.3	-	0	367	c.334G>A	c.(334-336)Ggt>Agt	p.G112S		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	112	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		ccaccgaaaccaccaccactg	0.637000														14			4		0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42807211	42807211	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:42807211C>T	uc011cps.2	-	4	392	c.294_splice	c.e4-1	p.K98_splice	SEPP1_uc011cpt.2_Splice_Site_p.K68_splice|SEPP1_uc011cpu.2_Splice_Site_p.K68_splice|SEPP1_uc003jna.3_Splice_Site	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	68					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						GTCTTCTAATCTAAAATATTT	0.289000														41			18		0	0	1	0	0
CSN1S1	1446	broad.mit.edu	37	4	70798305	70798305	+	Missense_Mutation	SNP	C	T	T	rs151264882	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:70798305C>T	uc003hep.1	+	1	81	c.32C>T	c.(31-33)gCt>gTt	p.A11V	CSN1S1_uc003heq.1_Missense_Mutation_p.A11V|CSN1S1_uc003her.1_Missense_Mutation_p.A11V	NM_001890	NP_001881	P47710	CASA1_HUMAN	Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA.	11						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TGTCTTGTGGCTGTTGCTCTT	0.378000														20			7		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386213	56386213	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56386213G>A	uc002ivx.4	-	21	5291	c.4420C>T	c.(4420-4422)Cgg>Tgg	p.R1474W	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.R1414W|BZRAP1_uc010wnt.2_Missense_Mutation_p.R1474W	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1474						mitochondrion	benzodiazepine receptor binding	p.S1473A(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGCACCTCCGGGAAGGGCCC	0.657000														26			13		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17013509	17013509	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17013509C>T	uc002nfb.3	-	34	4808	c.4776G>A	c.(4774-4776)gcG>gcA	p.A1592A	CPAMD8_uc002nfd.1_Silent_p.A57A	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1545						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCTGATCGGCCGCTGGGTCAT	0.662000														41			11		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145109788	145109788	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145109788G>A	uc003zar.3	-	17	2520	c.2438C>T	c.(2437-2439)cCt>cTt	p.P813L	OPLAH_uc003zas.1_Missense_Mutation_p.P62L	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	813							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CACGTCGCCAGGGTGGAGATC	0.677000														26			11		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19471629	19471629	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19471629G>A	uc002dgc.4	+	5	1870	c.1121G>A	c.(1120-1122)aGg>aAg	p.R374K	TMC5_uc010vaq.2_Missense_Mutation_p.R374K|TMC5_uc002dgb.4_Missense_Mutation_p.R374K|TMC5_uc010var.2_Missense_Mutation_p.R374K|TMC5_uc002dgd.1_Missense_Mutation_p.R128K|TMC5_uc002dge.4_Missense_Mutation_p.R128K|TMC5_uc002dgf.4_Missense_Mutation_p.R36K|TMC5_uc002dgg.4_Missense_Mutation_p.R15K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	374						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						AACCAGCCAAGGACCATGGAA	0.398000														40			17		0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119229819	119229819	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:119229819G>A	uc001pwm.4	-	5	1382	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	USP2_uc001pwl.4_Missense_Mutation_p.R154C|USP2_uc001pwn.4_Missense_Mutation_p.R120C	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	363					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGAAGAAAGCGAAGGAACTCC	0.527000														21			38		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48391447	48391447	+	Missense_Mutation	SNP	G	A	A	rs1050861		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48391447G>A	uc001rqu.3	-	6	654	c.473C>T	c.(472-474)cCt>cTt	p.P158L	COL2A1_uc001rqv.3_Missense_Mutation_p.P89L	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	158			P -> L (in dbSNP:rs1050861).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	aggATTTCCAGGGGTCCCAGG	0.582000														64			20		0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74868895	74868895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74868895C>T	uc002jti.3	+	0	167	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F	MGAT5B_uc002jtg.4_Intron|MGAT5B_uc002jth.3_Intron	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	12						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACGATGGCCCTTCCTGCCCT	0.577000														38			9		0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1957858	1957858	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:1957858G>A	uc003gdz.4	+	14	3000	c.2824G>A	c.(2824-2826)Ggg>Agg	p.G942R	WHSC1_uc003geb.4_Missense_Mutation_p.G942R|WHSC1_uc003gec.4_Missense_Mutation_p.G942R|WHSC1_uc003ged.4_Missense_Mutation_p.G942R|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_Missense_Mutation_p.G161R|WHSC1_uc011bvh.2_Missense_Mutation_p.G3R|WHSC1_uc010icf.3_Missense_Mutation_p.G290R	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	942	PWWP 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GTACATGGAGGGGGACCGGGG	0.512000			T	IGH@	MM									230			95		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754690	49754690	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:49754690G>A	uc003ozu.3	-	0	364	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	71					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TCAGGCATGGGAACACCATCA	0.502000														102			21		0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52790077	52790077	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:52790077G>A	uc002xwv.2	-	0	440	c.42C>T	c.(40-42)ttC>ttT	p.F14F	CYP24A1_uc002xwu.1_5'Flank|CYP24A1_uc002xww.2_Silent_p.F14F	NM_000782	NP_000773	Q07973	CP24A_HUMAN	Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	14					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCTGCTGCAGGAAGGCGGCAA	0.687000														6			3		0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14751223	14751223	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:14751223C>T	uc003jfm.4	-	4	973	c.642G>A	c.(640-642)aaG>aaA	p.K214K		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	214					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CGTGAATGTTCTTGTAGTAGC	0.562000														66			23		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95764944	95764944	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:95764944G>A	uc003kls.2	-	1	497	c.258C>T	c.(256-258)atC>atT	p.I86I	PCSK1_uc021ybq.1_Silent_p.I39I	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	86					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATCTCTTAGTGATATGAAAGG	0.318000														61			29		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108723676	108723676	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108723676C>T	uc003dxl.3	-	19	2160	c.2073G>A	c.(2071-2073)ctG>ctA	p.L691L	MORC1_uc011bhn.2_Silent_p.L670L	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	691					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GGGCATTCTTCAGGCACCCTT	0.338000														311			106		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11117598	11117598	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:11117598G>A	uc003jfa.1	-	12	2386	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	CTNND2_uc010itt.2_Silent_p.I656I|CTNND2_uc011cmy.1_Silent_p.I410I|CTNND2_uc011cmz.1_Silent_p.I314I|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.I314I	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	747					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCGCAGACTGGATCACGTACA	0.507000														122			56		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29416375	29416375	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29416375C>T	uc002rmy.3	-	28	5530	c.4578G>A	c.(4576-4578)gaG>gaA	p.E1526E	ALK_uc010ymo.2_Silent_p.E458E	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1526					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TGTCGTGTGGCTCCTTCTTTG	0.547000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					242			91		0	0	1	0	0
SRC	6714	broad.mit.edu	37	20	36030030	36030030	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36030030G>A	uc002xgx.3	+	10	1514	c.1065G>A	c.(1063-1065)ggG>ggA	p.G355G	SRC_uc002xgy.3_Silent_p.G355G|SRC_uc021wdd.1_5'Flank	NM_005417	NP_938033	P12931	SRC_HUMAN	Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	355	Protein kinase.				Ras protein signal transduction|T cell costimulation|axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly	caveola|cytosol|mitochondrial inner membrane	ATP binding|SH2 domain binding|SH3/SH2 adaptor activity|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	TTCTCAAGGGGGAGACAGGCA	0.622000														79			21		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6833918	6833919	+	Splice_Site	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6833918_6833919GG>AA	uc002mfu.1	+	19	1829	c.1732_splice	c.e19-1	p.D578_splice	VAV1_uc010xjh.1_Splice_Site_p.D546_splice|VAV1_uc010dva.1_Splice_Site_p.D578_splice|VAV1_uc002mfv.1_Splice_Site_p.D523_splice	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	578					T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TCTCCTTCCAGGACAAACTACA	0.535000														76			31		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269471	150269471	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150269471C>T	uc003whl.3	+	2	395	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Missense_Mutation_p.R119C	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	105							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGATTATTCGCTGCATTCT	0.522000														64			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590257	179590257	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179590257C>T	uc021vsy.1	-	67	17167	c.16942G>A	c.(16942-16944)Gaa>Aaa	p.E5648K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E2309K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6575	Ig-like 37.						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)			ATCACTTCTTCCTTCTCTTTA	0.433000														62			18		0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60557857	60557857	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60557857C>T	uc001npz.1	+	1	145	c.49C>T	c.(49-51)Cca>Tca	p.P17S		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	17						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						TAGGGGGCTCCCATCATGGCA	0.617000														86			30		0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380880	56380880	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56380880C>T	uc001nja.1	-	0	99	c.99G>A	c.(97-99)gcG>gcA	p.A33A	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	33					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						TTAGGTAGATCGCAAGGAATA	0.493000														76			48		0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34497596	34497596	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:34497596C>T	uc003ojo.3	+	5	1024	c.766C>T	c.(766-768)Ctc>Ttc	p.L256F	PACSIN1_uc003ojp.3_Missense_Mutation_p.L256F	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	256					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CAAACGGCACCTCAACCTGGC	0.582000														14			6		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	432479	432479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:432479G>A	uc003bot.3	+	20	3208	c.2566G>A	c.(2566-2568)Gga>Aga	p.G856R	CHL1_uc003bou.3_Missense_Mutation_p.G840R|CHL1_uc003bow.2_Missense_Mutation_p.G840R|CHL1_uc011asi.2_Missense_Mutation_p.G856R	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	840	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAGAGTACATGGACGTCTGAA	0.383000														70			9		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43052675	43052675	+	Missense_Mutation	SNP	G	A	A	rs145902391		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43052675G>A	uc002xma.3	+	7	999	c.910G>A	c.(910-912)Gat>Aat	p.D304N	HNF4A_uc002xlt.3_Missense_Mutation_p.D282N|HNF4A_uc002xlu.3_Missense_Mutation_p.D282N|HNF4A_uc002xlv.3_Missense_Mutation_p.D282N|HNF4A_uc002xly.3_Missense_Mutation_p.D304N|HNF4A_uc010ggq.3_Missense_Mutation_p.D297N|HNF4A_uc002xlz.3_Missense_Mutation_p.D304N	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	304					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.D304E(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGGGCTGAGCGATCCAGGGAA	0.607000														22			9		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44044528	44044528	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44044528G>A	uc001cjr.3	+	6	956	c.616G>A	c.(616-618)Gag>Aag	p.E206K	PTPRF_uc001cjq.4_Missense_Mutation_p.E212K|PTPRF_uc001cjs.3_Missense_Mutation_p.E206K|PTPRF_uc001cjt.4_Missense_Mutation_p.E206K	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	206	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.R206H(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGCAAGTACGAGTGTGTGGC	0.602000														51			14		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60193679	60193679	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:60193679G>A	uc001xen.1	-	2	1932	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S	RTN1_uc001xem.1_Missense_Mutation_p.P155S	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	575					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGGGCGCCAGGACCTAGAGGC	0.587000														12			12		0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37903043	37903043	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:37903043G>A	uc003tfn.3	+	7	805	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	145					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AGTTAGTGAAGAATCACCATG	0.343000														105			24		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395724	154395724	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:154395724G>A	uc010jih.1	+	0	2465	c.2305G>A	c.(2305-2307)Gaa>Aaa	p.E769K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	769	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.L768F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGACCTCCTTGAAGACAGAAA	0.453000														44			19		0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129921871	129921871	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:129921871G>A	uc003qbr.3	-	10	1577	c.1488C>T	c.(1486-1488)tcC>tcT	p.S496S	ARHGAP18_uc011ebw.2_Silent_p.S496S	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA.	496	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GCTGTTCACTGGACTTCAATC	0.363000														78			27		0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31286903	31286903	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31286903G>A	uc003aiy.1	+	7	1916	c.1812G>A	c.(1810-1812)ggG>ggA	p.G604G	OSBP2_uc011ala.1_Silent_p.G438G|OSBP2_uc010gwc.1_Silent_p.G431G|OSBP2_uc011alb.1_Silent_p.G555G|OSBP2_uc003aiz.1_Silent_p.G603G|OSBP2_uc003aja.1_Silent_p.G237G|OSBP2_uc011alc.2_Silent_p.G346G|OSBP2_uc011ald.1_Silent_p.G148G|OSBP2_uc010gwd.1_Silent_p.G149G	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	604					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CCATGCTGGGGGAGACCTTCG	0.662000											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			16		0	0	1	0	0
GHRH	2691	broad.mit.edu	37	20	35885233	35885233	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:35885233G>A	uc002xgr.3	-	0	79	c.60C>T	c.(58-60)tcC>tcT	p.S20S	GHRH_uc021wdc.1_Silent_p.S20S|GHRH_uc002xgt.3_Silent_p.S20S|GHRH_uc002xgs.3_Silent_p.S20S	NM_021081	NP_066567	P01286	SLIB_HUMAN	Homo sapiens growth hormone releasing hormone (GHRH), transcript variant 1, mRNA.	20					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding			lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				GGGGAGGTGGGGAGCAGTGGG	0.597000														13			8		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32554771	32554771	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:32554771C>T	uc002yow.1	-	15	3326	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	TIAM1_uc011adk.1_Missense_Mutation_p.E952K|TIAM1_uc011adl.1_Missense_Mutation_p.E892K	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	952					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGGGGGCTCTCGCCAAGGTCG	0.662000														15			8		0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60241837	60241837	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:60241837C>T	uc002lip.4	+	12	2523	c.2523C>T	c.(2521-2523)atC>atT	p.I841I	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Silent_p.I311I	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	841					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCCTGAGCATCGCATCACCAA	0.507000														90			26		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48547612	48547612	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48547612G>A	uc003toq.2	+	49	13515	c.13491G>A	c.(13489-13491)agG>agA	p.R4497R	ABCA13_uc010kys.1_Silent_p.R1572R|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.R227R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4497					transport	integral to membrane	ATP binding|ATPase activity	p.P4497Q(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGGCTACAGGATGTACTGGT	0.488000														34			8		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364037	22364037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22364037C>T	uc002nqs.1	-	2	800	c.482G>A	c.(481-483)aGa>aAa	p.R161K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	161					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)				AGTATAAATTCTTTCATGTTG	0.338000														84			32		0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233346338	233346338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233346338C>T	uc002vsv.2	-	13	2072	c.1867G>A	c.(1867-1869)Ggc>Agc	p.G623S	ECEL1_uc010fya.1_Missense_Mutation_p.G621S|ECEL1_uc010fyb.1_Missense_Mutation_p.G330S	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	623					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	p.G623D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TCATACTGGCCCCCTGTGGGC	0.652000														27			11		0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120279789	120279789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:120279789C>T	uc001ehz.3	+	7	1072	c.845C>T	c.(844-846)cCc>cTc	p.P282L	PHGDH_uc009whm.3_Missense_Mutation_p.P180L|PHGDH_uc001eib.3_Missense_Mutation_p.P248L	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	282					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	ATCAGCTGTCCCCACCTGGGT	0.592000														35			16		0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14307789	14307789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:14307789C>T	uc021war.1	-	0	364	c.364G>A	c.(364-366)Gat>Aat	p.D122N	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.D122N|FLRT3_uc002wow.2_Missense_Mutation_p.D122N	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	122					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GAAAGTGAATCATAAGTGATA	0.358000														118			49		0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	346892	346892	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:346892G>A	uc002kkm.3	-	4	945	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	244					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				ACCTGCTGCAGATTTTGAAAG	0.527000														85			28		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884482	228884482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228884482C>T	uc002vpq.2	-	6	1135	c.1088G>A	c.(1087-1089)aGa>aAa	p.R363K	SPHKAP_uc002vpp.2_Missense_Mutation_p.R363K|SPHKAP_uc010zlx.1_Missense_Mutation_p.R363K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	363						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TAGGTTGCTTCTCTGCTCTGC	0.438000														101			34		0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24608226	24608226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:24608226C>T	uc004dbi.3	-	3	633	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	PCYT1B_uc004dbk.4_Missense_Mutation_p.E134K|PCYT1B_uc004dbj.3_Missense_Mutation_p.E116K	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	134	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CTGAGAGCTTCGTATCTCTCG	0.443000														14			23		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212537927	212537927	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:212537927C>T	uc002veg.1	-	13	1776	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	ERBB4_uc002veh.1_Missense_Mutation_p.E560K|ERBB4_uc010zji.1_Missense_Mutation_p.E560K|ERBB4_uc010zjj.1_Missense_Mutation_p.E560K|ERBB4_uc010fut.1_Missense_Mutation_p.E560K	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	560	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TCCATCTTCTCACACTGGGGG	0.463000										TSP Lung(8;0.080)				52			21		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62038627	62038627	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:62038627C>T	uc001jky.3	-	3	657	c.319G>A	c.(319-321)Gga>Aga	p.G107R	ANK3_uc010qih.2_Missense_Mutation_p.G90R|ANK3_uc001jkz.4_Missense_Mutation_p.G101R|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	107					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						GCTGTGTTTCCTTTCTGTGAA	0.383000														105			35		0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130952776	130952776	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:130952776C>T	uc002tqv.3	-	2	352	c.251G>A	c.(250-252)aGg>aAg	p.R84K		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	Homo sapiens tubulin, alpha 3e (TUBA3E), mRNA.	84					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GAAGAGCTGCCTGTAGGTCCC	0.507000														149			42		0	0	1	0	0
HIST1H2BA	255626	broad.mit.edu	37	6	25727181	25727181	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:25727181C>T	uc003nfd.3	+	0	45	c.45C>T	c.(43-45)ggC>ggT	p.G15G	HIST1H2AA_uc003nfc.3_5'Flank	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN	Homo sapiens histone cluster 1, H2ba (HIST1H2BA), mRNA.	15					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						CCAAGAAGGGCTTTAAGAAAG	0.453000														77			30		0	0	1	0	0
TOMM40L	84134	broad.mit.edu	37	1	161196322	161196322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161196322C>T	uc001fzd.3	+	1	272	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	APOA2_uc001fzc.1_5'Flank|TOMM40L_uc010pkk.1_Non-coding_Transcript|TOMM40L_uc010pkl.1_Missense_Mutation_p.R15C|TOMM40L_uc009wue.3_5'UTR|TOMM40L_uc009wuf.2_Non-coding_Transcript|TOMM40L_uc001fze.3_Missense_Mutation_p.R15C	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like (TOMM40L), nuclear gene encoding mitochondrial protein, mRNA.	15					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GACTTTGCCCCGCCGGAGCCC	0.602000														44			12		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854251	88854251	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:88854251G>A	uc010kbz.3	-	1	873	c.743C>T	c.(742-744)gCc>gTc	p.A248V	CNR1_uc011dzr.2_Missense_Mutation_p.A248V|CNR1_uc011dzs.2_Missense_Mutation_p.A248V|CNR1_uc003pmq.4_Missense_Mutation_p.A248V|CNR1_uc011dzt.2_Missense_Mutation_p.A248V|CNR1_uc010kca.3_Missense_Mutation_p.A215V|CNR1_uc021zco.1_Missense_Mutation_p.A248V	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	248					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.A248A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AGGCAGCACGGCGATCACAAT	0.527000														65			9		0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58129186	58129186	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:58129186C>T	uc001spq.3	-	1	1193	c.1193G>A	c.(1192-1194)tGg>tAg	p.W398*	AGAP2_uc001spp.3_Nonsense_Mutation_p.W398*|AGAP2_uc001spr.3_Nonsense_Mutation_p.W62*	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	398					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GCTCAAAGTCCATTCCTGGCT	0.592000														24			3		0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085862	42085862	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42085862G>A	uc002ore.4	+	2	677	c.581G>A	c.(580-582)tGg>tAg	p.W194*	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Nonsense_Mutation_p.W194*	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	194	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						AAGCTGTCCTGGTTTAACCAT	0.542000														25			7		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581641	7581641	+	Missense_Mutation	SNP	G	A	A	rs142885240	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7581641G>A	uc003mxp.1	+	22	5497	c.5218G>A	c.(5218-5220)Gaa>Aaa	p.E1740K	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1740	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.E1740K(2)		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)		AGGACGAAGCGAAGCGGACAG	0.507000														133			46		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2604948	2604948	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:2604948G>A	uc002wgf.1	+	16	2227	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K	TMC2_uc002wgg.1_Missense_Mutation_p.E722K	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	738						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGTCCTCCAAGAGACCATTGA	0.483000														99			35		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118629336	118629336	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:118629336C>T	uc001ehk.2	-	11	1637	c.1569G>A	c.(1567-1569)ctG>ctA	p.L523L		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	523						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CATGATAGTTCAGTAGGAGGG	0.378000														98			45		0	0	1	0	0
ALAD	210	broad.mit.edu	37	9	116155791	116155791	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116155791G>A	uc011lxf.2	-	1	251	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	ALAD_uc011lxe.2_Missense_Mutation_p.R17W|ALAD_uc004bhl.4_5'UTR	NM_000031	NP_000022	P13716	HEM2_HUMAN	Homo sapiens aminolevulinate dehydratase (ALAD), mRNA.	17					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	TGCCAGGCCCGAAGTAGTGGG	0.617000														46			13		0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156711062	156711062	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:156711062G>A	uc021xgh.1	+	8	1219	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	74										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACTGAAAAATGAAAGGTGCAG	0.294000														68			19		0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187389	12187389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12187389C>T	uc002mtb.2	+	3	1597	c.1454C>T	c.(1453-1455)tCa>tTa	p.S485L	ZNF844_uc010dym.1_Missense_Mutation_p.S328L	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GTAAAGCCTTCATTTTTTCCA	0.448000														70			38		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99315203	99315203	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99315203C>T	uc003uru.3	-	4	481	c.378G>A	c.(376-378)tgG>tgA	p.W126*	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.	126					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)					GTATTCTCTTCCATTCTTCAT	0.383000														63			6		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24561588	24561588	+	Silent	SNP	C	T	T	rs150284461		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:24561588C>T	uc002zzi.1	+	30	5128	c.5001C>T	c.(4999-5001)ctC>ctT	p.L1667L	CABIN1_uc021wnc.1_Silent_p.L1617L|CABIN1_uc002zzj.1_Silent_p.L1588L|CABIN1_uc002zzl.2_Silent_p.L1667L|CABIN1_uc002zzm.1_Silent_p.L92L	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1667					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGAGCGAGCTCGCAGAGGTAT	0.612000														20			8		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881789	228881789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228881789C>T	uc002vpq.2	-	6	3828	c.3781G>A	c.(3781-3783)Gat>Aat	p.D1261N	SPHKAP_uc002vpp.2_Missense_Mutation_p.D1261N|SPHKAP_uc010zlx.1_Missense_Mutation_p.D1261N	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1261						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCAAAGCCATCTAAAGAGTTG	0.542000														64			18		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	48994003	48994003	+	Missense_Mutation	SNP	T	C	C	rs146104899	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:48994003T>C	uc003gyv.3	+	3	589	c.407T>C	c.(406-408)cTa>cCa	p.L136P	CWH43_uc011bzl.2_Missense_Mutation_p.L109P	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	136					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTTGTTGTTCTACGCATATGG	0.373000														69			26		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169519217	169519217	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169519217C>T	uc001ggg.1	-	9	1578	c.1433G>A	c.(1432-1434)gGg>gAg	p.G478E	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	478	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATAGGTTTCCCCTGGTTGAAC	0.353000														146			38		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447223	226447223	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:226447223C>T	uc002voe.2	+	3	1265	c.1090C>T	c.(1090-1092)Ccc>Tcc	p.P364S	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.P134S	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	364	Pro-rich.																CACGAAGCTTCCCGTGCTGGA	0.637000														31			18		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20709625	20709625	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:20709625G>A	uc001reh.2	+	1	1032	c.992G>A	c.(991-993)cGa>cAa	p.R331Q		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	331					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GACCACAAACGAGGGCCAAGA	0.348000														146			17		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196913028	196913028	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196913028T>C	uc002utj.4	-	3	343	c.242A>G	c.(241-243)cAg>cGg	p.Q81R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	81	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCATGGGACTGTTCATTTTT	0.363000														75			24		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57171830	57171830	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57171830G>A	uc001cyk.4	+	7	1430	c.1359G>A	c.(1357-1359)atG>atA	p.M453I		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	453					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ACGTGAAAATGAGCTTACAAC	0.343000														63			28		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	160016	160016	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000192.1:160016C>T	uc010yih.1	-	11		c.2406G>A						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											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)				cgtggtcctcctccccttccc	0.632000														11			4		0	0	1	0	0
PLGLA	285189	broad.mit.edu	37	2	107002828	107002828	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:107002828G>A	uc002tdp.3	+	0		c.60G>A								Homo sapiens plasminogen-like A (PLGLA), non-coding RNA.																		AAGCAGAGAAGAATGTGCAGC	0.473000														276			66		0	0	1	0	0
IL3	3562	broad.mit.edu	37	5	131398405	131398405	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:131398405G>A	uc003kwe.1	+	4	433	c.380G>A	c.(379-381)cGg>cAg	p.R127Q		NM_000588	NP_000579	P08700	IL3_HUMAN	Homo sapiens interleukin 3 (colony-stimulating factor, multiple) (IL3), mRNA.	127					cell-cell signaling|immune response|nervous system development|positive regulation of DNA replication|positive regulation of cell proliferation|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	AATGAATTCCGGAGGAAACTG	0.483000											OREG0016762	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		117			41		0	0	1	0	0
TRBV30	28557	broad.mit.edu	37	7	142510528	142510528	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142510528C>T	uc003wbp.2	-	1	190	c.78G>A	c.(76-78)gcG>gcA	p.A26A	TRBV30_uc022aob.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GCACCAGGGTCGCTGGCCATT	0.577000														13			4		0	0	1	0	0
NRN1L	123904	broad.mit.edu	37	16	67920138	67920138	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67920138C>T	uc002euu.3	+	2	500	c.474C>T	c.(472-474)gcC>gcT	p.A158A	EDC4_uc002eut.1_3'UTR	NM_198443	NP_940845	Q496H8	NRN1L_HUMAN	Homo sapiens neuritin 1-like (NRN1L), mRNA.	158						anchored to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		TGGCTCTGGCCTACCTCCTGA	0.682000														16			5		0	0	1	0	0
SERPINF2	5345	broad.mit.edu	37	17	1650748	1650748	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:1650748C>T	uc002ftk.1	+	6	734	c.657C>T	c.(655-657)ttC>ttT	p.F219F	SERPINF2_uc010vqr.1_Silent_p.F155F|SERPINF2_uc021tnm.1_Silent_p.F219F	NM_000934	NP_001159392	P08697	A2AP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA.	219					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	TTCAGGAATTCCTCTCTGGGC	0.587000														13			10		0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113202003	113202003	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:113202003G>A	uc001vse.1	-	9	1286	c.1099C>T	c.(1099-1101)Ctc>Ttc	p.L367F	TUBGCP3_uc010tjq.1_Missense_Mutation_p.L357F|TUBGCP3_uc001vsf.3_Missense_Mutation_p.L367F|TUBGCP3_uc001vsg.1_Missense_Mutation_p.L367F	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	367					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	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)					CAAACCAGGAGGCGCCGAAGT	0.473000														60			11		0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39978721	39978721	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:39978721C>T	uc010ggh.3	+	6	880	c.789C>T	c.(787-789)tcC>tcT	p.S263S	LPIN3_uc002xjx.3_Silent_p.S262S|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	262					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GGCCCGAGTCCTCAGTGGTCC	0.627000														11			3		0	0	1	0	0
MMP17	4326	broad.mit.edu	37	12	132334539	132334539	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:132334539C>T	uc001ujc.1	+	8	1496	c.1397C>T	c.(1396-1398)cCc>cTc	p.P466L	MMP17_uc001ujd.1_Missense_Mutation_p.P382L	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA.	466	Hemopexin-like 3.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CCCGGCTACCCCGCCCAGAGC	0.657000														44			30		0	0	1	0	0
SPANXE	171489	broad.mit.edu	37	X	140785651	140785651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140785651C>T	uc004fbq.3	-	1	358	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	89						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					ACCATTATTTCCATGAATTCC	0.433000														74			81		0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52886564	52886564	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52886564C>T	uc001sam.3	-	0	618	c.409G>A	c.(409-411)Gag>Aag	p.E137K		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	137	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACGGTGACCTCTTGGATGCCT	0.632000														58			22		0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18763838	18763838	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:18763838G>A	uc001mpd.3	-	6	1127	c.696C>T	c.(694-696)ctC>ctT	p.L232L	PTPN5_uc001mpb.3_Silent_p.L200L|PTPN5_uc001mpc.3_Silent_p.L232L|PTPN5_uc010rdj.2_Silent_p.L176L|PTPN5_uc001mpf.3_Silent_p.L208L|PTPN5_uc001mpe.3_Silent_p.L200L|PTPN5_uc010rdk.2_Silent_p.L177L	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	232						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						ACTTGACGGTGAGTGAGGTGG	0.592000														104			44		0	0	1	0	0
PSORS1C2	170680	broad.mit.edu	37	6	31105856	31105856	+	Missense_Mutation	SNP	G	A	A	rs144826968	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31105856G>A	uc003nso.4	-	1	607	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron|PSORS1C1_uc003nsn.2_Intron	NM_014069	NP_054788	Q9UIG4	PS1C2_HUMAN	Homo sapiens psoriasis susceptibility 1 candidate 2 (PSORS1C2), mRNA.	95						extracellular region				NS(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCAGGCCGGGGAGGTTGAGGA	0.657000														50			31		0	0	1	0	0
C1orf64	149563	broad.mit.edu	37	1	16332591	16332591	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16332591A>G	uc001axn.3	+	1	328	c.260A>G	c.(259-261)gAa>gGa	p.E87G		NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN	Homo sapiens chromosome 1 open reading frame 64 (C1orf64), mRNA.	87										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTGTGGGGAAAACTGGCCC	0.642000														98			55		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50278595	50278595	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:50278595G>A	uc002lfe.2	+	1	879	c.263G>A	c.(262-264)aGg>aAg	p.R88K	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	88	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGGATGAAAGGAAGCAGCAA	0.483000														99			20		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13701506	13701506	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13701506C>T	uc003jfd.2	-	76	13420	c.13378G>A	c.(13378-13380)Gaa>Aaa	p.E4460K	DNAH5_uc003jfc.2_Missense_Mutation_p.E628K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4460					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)					TCTATAAGTTCAGTAAACCAG	0.393000									Kartagener syndrome					109			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069821	9069821	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9069821G>A	uc002mkp.3	-	2	17829	c.17625C>T	c.(17623-17625)acC>acT	p.T5875T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5877	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						CCAGGGTAAGGGTAGCCTGTG	0.493000														94			36		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103124664	103124664	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103124664C>T	uc002tbz.4	+	4	1782	c.1325C>T	c.(1324-1326)cCt>cTt	p.P442L		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	442					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						TTTTTGCTTCCTCTGTCTCTT	0.378000														60			31		0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	939091	939091	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:939091C>T	uc003sjo.4	-	8	1025	c.832G>A	c.(832-834)Gat>Aat	p.D278N	ADAP1_uc003sjm.4_Missense_Mutation_p.D104N|ADAP1_uc011jvs.2_Missense_Mutation_p.D183N|ADAP1_uc003sjn.4_Missense_Mutation_p.D206N|ADAP1_uc010ksc.3_Missense_Mutation_p.D206N	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	278	PH 2.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						CTGCGGTCATCCATGGTGAAC	0.637000														23			15		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10247785	10247785	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10247785G>A	uc002mng.3	-	35	4597	c.4417C>T	c.(4417-4419)Cgt>Tgt	p.R1473C	DNMT1_uc002mnf.3_Missense_Mutation_p.R397C|DNMT1_uc010xlc.2_Missense_Mutation_p.R1489C|DNMT1_uc002mnh.3_Missense_Mutation_p.R1368C|DNMT1_uc010xld.2_Missense_Mutation_p.R1473C	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1473	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CAGACCCCACGGAGGGCCCCA	0.647000														10			7		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43048468	43048468	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43048468G>A	uc002xma.3	+	6	933	c.844G>A	c.(844-846)Gat>Aat	p.D282N	HNF4A_uc002xlt.3_Missense_Mutation_p.D260N|HNF4A_uc002xlu.3_Missense_Mutation_p.D260N|HNF4A_uc002xlv.3_Missense_Mutation_p.D260N|HNF4A_uc002xly.3_Missense_Mutation_p.D282N|HNF4A_uc010ggq.3_Missense_Mutation_p.D275N|HNF4A_uc002xlz.3_Missense_Mutation_p.D282N	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	282					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.I281I(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCTGCAGATCGATGACAATGA	0.567000														84			28		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62442615	62442615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:62442615C>T	uc003peg.2	-	6	1112	c.865G>A	c.(865-867)Gat>Aat	p.D289N		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.D289N(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TAGCTGTTATCATAAGTCTCA	0.378000														90			29		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3267076	3267076	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:3267076C>T	uc022aqr.1	-	12	2003	c.1613G>A	c.(1612-1614)cGg>cAg	p.R538Q	CSMD1_uc011kwj.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	539	Sushi 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGCCCGTCCGCTTCCCATA	0.493000														15			3		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6081974	6081974	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:6081974C>T	uc010idb.1	-	6	1653	c.1167G>A	c.(1165-1167)acG>acA	p.T389T	JAKMIP1_uc010idc.1_Silent_p.T224T|JAKMIP1_uc010idd.1_Silent_p.T389T|JAKMIP1_uc003giu.4_Silent_p.T389T|JAKMIP1_uc011bwc.2_Silent_p.T224T|JAKMIP1_uc003giv.4_Silent_p.T389T|JAKMIP1_uc010ide.3_Silent_p.T389T	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	389	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTCATCCCTCGTCAGGCTGA	0.582000														40			12		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30510707	30510708	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30510707_30510708GG>AA	uc002dyi.4	+	16	2218_2219	c.2042_2043GG>AA	c.(2041-2043)cgg>cAA	p.R681Q	ITGAL_uc002dyj.4_Missense_Mutation_p.R598Q|ITGAL_uc010vev.2_Missense_Mutation_p.R77Q	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	681					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	p.R681Q(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GATGGCCACCGGACCAGAAGAC	0.545000														164			13		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196928210	196928210	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:196928210G>A	uc001gtq.1	+	4	890	c.813G>A	c.(811-813)taG>taA	p.*271*	CFHR2_uc001gtr.1_Silent_p.*147*	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	0						extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AAGAAAAATAGAATCAATGGC	0.284000														59			14		0	0	1	0	0
RAB40AL	282808	broad.mit.edu	37	X	102193023	102193023	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:102193023C>T	uc004ejs.3	+	0	824	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN	Homo sapiens RAB40A, member RAS oncogene family-like (RAB40AL), mRNA.	259					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						AAGTGAAGATCGTCTGCCCAC	0.537000														39			47		0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	136030652	136030652	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:136030652G>A	uc004ccw.3	-	5	553	c.272C>T	c.(271-273)tCc>tTc	p.S91F	RALGDS_uc011mcw.2_Silent_p.L103L|RALGDS_uc010nab.3_Silent_p.L103L|RALGDS_uc011mcx.2_Missense_Mutation_p.S74F|RALGDS_uc010nac.1_5'UTR|RALGDS_uc004ccy.1_Missense_Mutation_p.S91F	NM_021996	NP_068836	Q12967	GNDS_HUMAN	Homo sapiens globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (GBGT1), mRNA.	360					Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGTTCCCTCGGAGACGATGGG	0.617000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									26			10		0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27448833	27448833	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:27448833G>A	uc002dor.2	+	4	791	c.243G>A	c.(241-243)aaG>aaA	p.K81K	IL21R_uc002doq.2_Silent_p.K59K|IL21R_uc002dos.2_Silent_p.K59K	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	59					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.C81Y(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AAGAGCTGAAGGACGAGGCCA	0.612000			T	BCL6	NHL									55			20		0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628377	173628377	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:173628377G>A	uc001gja.1	-	1	242	c.181C>T	c.(181-183)Cct>Tct	p.P61S	ANKRD45_uc001gjb.4_Missense_Mutation_p.P61S	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	77										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TCATGATGAGGATTCTCAGGA	0.473000														50			24		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226491723	226491723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:226491723C>T	uc002voe.2	+	4	1884	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	NYAP2_uc010fxa.1_Silent_p.F99F|NYAP2_uc002vof.1_Missense_Mutation_p.S340F	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	570																	GGGGCGTCTTCCTCCAGAGAG	0.527000														12			5		0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86126188	86126188	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:86126188C>T	uc001pbx.2	+	12	1952	c.1524C>T	c.(1522-1524)ccC>ccT	p.P508P	CCDC81_uc001pbw.2_Silent_p.P418P|CCDC81_uc010rtq.2_Silent_p.P291P|CCDC81_uc001pby.2_Silent_p.P243P	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	508										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CCTCTGAGCCCATCTTTGGTA	0.458000														81			21		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227922301	227922301	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:227922301G>A	uc021vxr.1	-	27	2500	c.2399C>T	c.(2398-2400)cCt>cTt	p.P800L	COL4A4_uc021vxs.1_Missense_Mutation_p.P800L	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	800	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TAGGAATCCAGGAATGCCAGC	0.478000														31			11		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39001159	39001159	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39001159G>A	uc002oit.3	+	58	9084	c.8954G>A	c.(8953-8955)cGa>cAa	p.R2985Q	RYR1_uc002oiu.3_Missense_Mutation_p.R2985Q|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2985					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2985L(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGCAGTGGGCGAGTGGAAAAG	0.562000														106			20		0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98666301	98666301	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:98666301C>T	uc001vne.3	+	21	2392	c.2212C>T	c.(2212-2214)Cga>Tga	p.R738*		NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	720					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity	p.R738L(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GAAACGTGTTCGAGTGGCAGC	0.433000														120			38		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109707915	109707915	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:109707915C>T	uc010agk.2	+	26	3929	c.3307C>T	c.(3307-3309)Cgc>Tgc	p.R1103C	MYO16_uc001vqt.1_Missense_Mutation_p.R1081C|MYO16_uc001vqu.1_Missense_Mutation_p.R881C|MYO16_uc010tjh.1_Missense_Mutation_p.R593C	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1081	Myosin head-like 2.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATACCCTGTTCGCCTTTCCTT	0.433000														132			29		0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50528136	50528136	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:50528136G>A	uc001zxw.3	+	9	1938	c.1706G>A	c.(1705-1707)gGa>gAa	p.G569E	SLC27A2_uc010bes.3_Missense_Mutation_p.G516E|SLC27A2_uc001zxx.3_Missense_Mutation_p.G334E	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	569					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GAGATCACTGGAACTTTTAAA	0.428000														149			17		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291974	33291974	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:33291974G>A	uc001wrq.3	+	12	5125	c.4955G>A	c.(4954-4956)cGa>cAa	p.R1652Q		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1652	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAGATAAAACGAAGTGTTTCT	0.423000														60			20		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46930133	46930133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:46930133G>A	uc003bhw.1	-	0	2935	c.2935C>T	c.(2935-2937)Ctt>Ttt	p.L979F		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	979	Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAGGCGCTAAGGGGAGTGGGA	0.567000														100			17		0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75439890	75439890	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:75439890C>T	uc010rru.2	+	4	706	c.706C>T	c.(706-708)Ccc>Tcc	p.P236S	MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.2_Missense_Mutation_p.P154S	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	236					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TGACCAGATTCCCAACTCTTC	0.532000														93			46		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144918897	144918897	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:144918897C>T	uc021ouh.1	-	9	1591	c.1289G>A	c.(1288-1290)cGa>cAa	p.R430Q	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_Missense_Mutation_p.R430Q|PDE4DIP_uc001elx.4_Missense_Mutation_p.R496Q|PDE4DIP_uc001emd.2_Missense_Mutation_p.R430Q|PDE4DIP_uc001emc.2_Missense_Mutation_p.R430Q|PDE4DIP_uc001emb.1_Missense_Mutation_p.R593Q|PDE4DIP_uc001eme.1_5'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	430					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)		TTCCTGGGTTCGAATCTCATT	0.438000			T	PDGFRB	MPD									750			88		0	0	1	0	0
ACTR3	10096	broad.mit.edu	37	2	114670797	114670797	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:114670797C>T	uc002tkx.1	+	1	413	c.93C>T	c.(91-93)atC>atT	p.I31I	ACTR3_uc010yyc.1_Missense_Mutation_p.S11F|ACTR3_uc010yyd.1_5'UTR	NM_005721	NP_005712	P61158	ARP3_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog (yeast) (ACTR3), mRNA.	31					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	ATP binding|actin binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						AGTTTATCATCCCTTCCTGTA	0.294000														71			24		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179554594	179554594	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179554594C>T	uc021vsy.1	-	118	28285	c.28060G>A	c.(28060-28062)Gaa>Aaa	p.E9354K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6015K|TTN_uc010fre.1_Missense_Mutation_p.E465K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10281	Ig-like 76.						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)			ATCTTTTCTTCAGGGACAGGT	0.403000														218			75		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647777	51647777	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51647777C>T	uc002pvv.1	+	1	617	c.548C>T	c.(547-549)tCc>tTc	p.S183F	SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	183	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.S183C(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CCTATGATCTCCTGGATGGGG	0.652000														150			58		0	0	1	0	0
TCRAVN1	0	broad.mit.edu	37	14	22580921	22580921	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22580921G>A	uc010ajh.1	+	1	340	c.264G>A	c.(262-264)aaG>aaA	p.K88K	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					Homo sapiens mRNA for T cell receptor alpha variable 25, partial cds, clone: SEB 340.																		AAGCAAAAAAGAACAGCTCCC	0.483000														20			12		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40853444	40853444	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:40853444C>T	uc003jmg.3	+	2	2085	c.2010C>T	c.(2008-2010)tcC>tcT	p.S670S		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	670					apoptosis|regulation of apoptosis	intracellular		p.S670S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TTCAAGTTTCCTCTGGAGAAA	0.493000														131			53		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237538048	237538048	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:237538048C>T	uc001hyl.1	+	6	536	c.416C>T	c.(415-417)tCa>tTa	p.S139L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	139	MIR 1.				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)			TCCCGGTCTTCAACTGATAAG	0.478000														10			6		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64225436	64225436	+	Missense_Mutation	SNP	C	T	T	rs149659675	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:64225436C>T	uc002jfn.4	-	0	121	c.62G>A	c.(61-63)cGg>cAg	p.R21Q		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	21	Sushi 1.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GTACTTACTCCGTCCTGCAAT	0.418000														34			8		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18021541	18021541	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:18021541C>T	uc010gqw.1	+	13	1826	c.1826C>T	c.(1825-1827)cCa>cTa	p.P609L	CECR2_uc010gqv.1_Missense_Mutation_p.P470L|CECR2_uc002zml.2_Missense_Mutation_p.P470L	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	653					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCAGCAGTACCAGGAACATTT	0.542000														38			24		0	0	1	0	0
JKAMP	51528	broad.mit.edu	37	14	59970692	59970692	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:59970692C>T	uc001xei.4	+	6	1382	c.880C>T	c.(880-882)Ctt>Ttt	p.L294F	JKAMP_uc001xef.4_Missense_Mutation_p.L280F|JKAMP_uc001xeh.4_Missense_Mutation_p.L274F|JKAMP_uc001xeg.4_Missense_Mutation_p.L288F|JKAMP_uc010try.2_Missense_Mutation_p.L217F|JKAMP_uc001xej.4_Missense_Mutation_p.L217F	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	Homo sapiens JNK1/MAPK8-associated membrane protein (JKAMP), transcript variant 2, mRNA.	295					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						AGATTTGCCCCTTTTGGCTTT	0.418000														78			36		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584053	179584053	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179584053C>T	uc021vsy.1	-	79	20557	c.20332G>A	c.(20332-20334)Gga>Aga	p.G6778R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3439R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7705	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTCATTTCCATCCTGAAAC	0.512000														123			61		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39008129	39008129	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39008129C>T	uc002oit.3	+	65	9946	c.9816C>T	c.(9814-9816)atC>atT	p.I3272I	RYR1_uc002oiu.3_Silent_p.I3272I|RYR1_uc002oiv.1_Silent_p.I192I|RYR1_uc010xuf.1_Silent_p.I192I	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3272					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCATCGAGATCACGCTGCCCA	0.697000														33			23		0	0	1	0	0
CHRM1	1128	broad.mit.edu	37	11	62677518	62677518	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62677518C>T	uc021qko.1	-	0	1055	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q	CHRM1_uc001nwi.3_Missense_Mutation_p.R352Q	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	352					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	GAAGGTCTTCCGCTTGGCCAG	0.597000														30			11		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596407	24596407	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:24596407C>T	uc011djo.2	-	2	995	c.495G>A	c.(493-495)aaG>aaA	p.K165K	KIAA0319_uc011djp.2_Silent_p.K120K|KIAA0319_uc003neh.1_Silent_p.K165K|KIAA0319_uc011djq.1_Silent_p.K156K|KIAA0319_uc011djr.1_Silent_p.K165K	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	165					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GCAAGAGGTCCTTCTCCAGCT	0.577000														52			22		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220355492	220355492	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220355492G>A	uc010fwg.3	+	37	9199	c.9199G>A	c.(9199-9201)Gtg>Atg	p.V3067M		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	3067	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CACTTACATGGTGCAGCTGCT	0.602000														79			26		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77455135	77455135	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77455135C>T	uc004ajl.1	-	4	587	c.349G>A	c.(349-351)Gat>Aat	p.D117N	TRPM6_uc004ajk.1_Missense_Mutation_p.D112N|TRPM6_uc022bib.1_Missense_Mutation_p.D112N|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.D117N|TRPM6_uc010mpd.1_Missense_Mutation_p.D117N|TRPM6_uc010mpe.1_Missense_Mutation_p.D117N|TRPM6_uc004ajn.1_Missense_Mutation_p.D117N	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	117					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGTTTTGTATCATAAGAAGTT	0.403000														26			15		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802836	27802836	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27802836C>T	uc002rkz.4	+	0	3448	c.3397C>T	c.(3397-3399)Cat>Tat	p.H1133Y		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1133										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACTTAATTGCCATCATAAATT	0.493000														151			69		0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17789545	17789545	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:17789545G>A	uc003zna.3	+	5	909	c.621G>A	c.(619-621)atG>atA	p.M207I	SH3GL2_uc011lmx.1_Missense_Mutation_p.M172I|SH3GL2_uc011lmy.2_Missense_Mutation_p.M160I	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	207	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TCTTGGAGATGGATGTAAGTG	0.373000														72			11		0	0	1	0	0
GNB3	2784	broad.mit.edu	37	12	6952194	6952194	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6952194G>A	uc001qrd.3	+	4	562	c.157G>A	c.(157-159)Gga>Aga	p.G53R	GNB3_uc001qrc.3_Missense_Mutation_p.G9R|GNB3_uc009zfe.3_Missense_Mutation_p.G53R	NM_002075	NP_002066	P16520	GBB3_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 3 (GNB3), mRNA.	53					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GACGTTAAGGGGACACCTGGC	0.602000														42			12		0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	938749	938749	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:938749C>T	uc003sjo.4	-	9	1210	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E	ADAP1_uc003sjm.4_Silent_p.E165E|ADAP1_uc011jvs.2_Silent_p.E244E|ADAP1_uc003sjn.4_Silent_p.E267E|ADAP1_uc010ksc.3_Silent_p.E267E	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	339	PH 2.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						CGGACTCCGTCTCGCAGGCAA	0.687000														59			17		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11718523	11718523	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:11718523G>A	uc002rbk.1	+	5	1038	c.738G>A	c.(736-738)acG>acA	p.T246T	GREB1_uc002rbl.3_Silent_p.T246T|GREB1_uc002rbm.3_Silent_p.T136T|GREB1_uc002rbn.1_Silent_p.T246T	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	246						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTCCTGGGACGAACCCCAGCA	0.617000														79			28		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179408973	179408973	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179408973C>T	uc021vsy.1	-	293	88504	c.88279G>A	c.(88279-88281)Gaa>Aaa	p.E29427K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E23122K|TTN_uc021vta.1_Missense_Mutation_p.E23055K|TTN_uc021vtb.1_Missense_Mutation_p.E22930K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30354	Fibronectin type-III 114.						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)			TCGCTGTATTCGCTCATACCC	0.408000														52			27		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81181868	81181868	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:81181868G>A	uc002bfw.1	+	8	1281	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	KIAA1199_uc010unn.1_Missense_Mutation_p.E341K	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	341										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TAAAGGTGGGGAGAAAATTTC	0.428000														79			56		0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158663943	158663943	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:158663943C>T	uc003woe.4	+	2	338	c.180C>T	c.(178-180)ccC>ccT	p.P60P		NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	60										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GCAGGGATCCCGACCAGGATG	0.567000														13			11		0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4348328	4348328	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:4348328C>T	uc002fxt.3	+	3	310	c.266_splice	c.e3-1	p.V89_splice	SPNS3_uc002fxu.3_Intron	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	89					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTCCTTCAGTCTTCGTTAGCT	0.612000														160			67		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24448182	24448182	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:24448182G>A	uc003ned.1	-	16	1712	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	GPLD1_uc010jpr.1_Missense_Mutation_p.S371F|GPLD1_uc010jps.1_Missense_Mutation_p.S534F	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	534				VIGS -> MLGT (in Ref. 6; AA sequence).		extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TGCAAAAGGGGAGCCGATGAC	0.532000														55			16		0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654819	31654819	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:31654819G>A	uc002ynv.3	-	0	458	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	144						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						CGTTGCGGAGGGTTTGGCAGG	0.498000														122			36		0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905667	15905667	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15905667A>T	uc010xos.2	+	0	809	c.809A>T	c.(808-810)gAa>gTa	p.E270V		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P269P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CAGTCTCCGGAAGGAGACACC	0.567000														53			30		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43708284	43708284	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43708284G>A	uc002ovy.3	-	1	286	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	PSG4_uc002ovz.3_Missense_Mutation_p.L62F|PSG4_uc002owb.3_Missense_Mutation_p.L62F	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	62	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TAGCCAGCAAGATTCTGGGGC	0.448000														364			29		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54793667	54793667	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54793667G>A	uc001sga.3	-	25	2776	c.2708C>T	c.(2707-2709)tCc>tTc	p.S903F		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	903					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGGTCCCGAGGAAGCAGAGCT	0.552000											OREG0021897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		120			40		0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14706316	14706316	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:14706316G>A	uc001rcc.1	-	1	307	c.146C>T	c.(145-147)cCt>cTt	p.P49L		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	49					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						CTTTTCAGCAGGCATCCAGTA	0.408000														90			19		0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111311669	111311669	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:111311669C>T	uc001trv.1	+	4	588	c.393C>T	c.(391-393)atC>atT	p.I131I	CCDC63_uc009zvt.1_Silent_p.I46I|CCDC63_uc010sye.1_Silent_p.I91I|CCDC63_uc001trw.1_Silent_p.I46I	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	131										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AAAAAAAAATCGCAAACCAAA	0.403000														64			30		0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116064542	116064542	+	Missense_Mutation	SNP	G	A	A	rs148589522		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:116064542G>A	uc001lbn.3	-	10	1521	c.1220C>T	c.(1219-1221)cCc>cTc	p.P407L	AFAP1L2_uc001lbo.3_Missense_Mutation_p.P407L|AFAP1L2_uc010qse.2_Missense_Mutation_p.P460L|AFAP1L2_uc001lbp.3_Missense_Mutation_p.P435L|AFAP1L2_uc001lbr.1_Missense_Mutation_p.P407L|AFAP1L2_uc010qsd.2_5'UTR|AFAP1L2_uc001lbq.1_5'Flank	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	407	PH 2.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GTCGGGGCTGGGGTCTGGGAC	0.667000														62			7		0	0	1	0	0
TSC22D1	8848	broad.mit.edu	37	13	45149450	45149450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:45149450G>A	uc001uzn.4	-	0	1252	c.761C>T	c.(760-762)cCc>cTc	p.P254L	TSC22D1_uc001uzo.2_Missense_Mutation_p.P254L|TSC22D1-AS1_uc021rjb.1_5'Flank	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	254					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGGGCTTGAGGGTGGCCCACC	0.507000														48			23		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128628034	128628034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:128628034G>A	uc010sbu.2	+	1	386	c.43G>A	c.(43-45)Gac>Aac	p.D15N	FLI1_uc010sbt.2_5'UTR|FLI1_uc010sbv.2_5'UTR|FLI1_uc009zci.3_5'UTR|FLI1_uc001qen.3_5'UTR	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	15					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GGTGAGCGACGACCAGTCCCT	0.602000			T	EWSR1	Ewing sarcoma									12			3		0	0	1	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65157266	65157267	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65157266_65157267CC>TT	uc002anv.3	+	5	786_787	c.652_653CC>TT	c.(652-654)cct>TTt	p.P218F	PLEKHO2_uc002anw.3_Missense_Mutation_p.P168F	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 2 (PLEKHO2), transcript variant 1, mRNA.	218	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GACCACCAGCCCTGGTGACAGG	0.624000														176			21		0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131918	82131918	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:82131918G>A	uc002fgv.3	+	4	1213	c.1041G>A	c.(1039-1041)tgG>tgA	p.W347*		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	347					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	CTTACTTGTGGATCTGCCTTG	0.493000														92			40		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3116432	3116432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:3116432C>T	uc002klp.3	-	20	3534	c.3200G>A	c.(3199-3201)cGg>cAg	p.R1067Q	MYOM1_uc002klq.3_Missense_Mutation_p.R971Q	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1067	Fibronectin type-III 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GACCGGAGTCCGCCCGGAGTG	0.552000														21			10		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73554625	73554625	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73554625C>T	uc002joh.3	+	4	442	c.288C>T	c.(286-288)agC>agT	p.S96S	LLGL2_uc002jog.1_Silent_p.S96S|LLGL2_uc010dgf.1_Silent_p.S96S|LLGL2_uc002joi.3_Silent_p.S96S|LLGL2_uc010dgg.2_Silent_p.S96S|LLGL2_uc002joj.3_Silent_p.S85S	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	96					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ATGACAACAGCCTGCACCTTT	0.622000														14			12		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197102708	197102708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197102708G>A	uc001gtu.3	-	5	2448	c.2191C>T	c.(2191-2193)Ctt>Ttt	p.L731F	ASPM_uc001gtv.3_Missense_Mutation_p.L731F|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	731					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTCCCAAAAGAAGAGTAGCA	0.338000														44			12		0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088760	57088760	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57088760C>T	uc002qnl.4	+	5	1639	c.963C>T	c.(961-963)ttC>ttT	p.F321F	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATAAAGCATTCAGCCAGCTTG	0.448000														51			27		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181708304	181708304	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181708304C>T	uc009wxt.3	+	24	3829	c.3634C>T	c.(3634-3636)Ctg>Ttg	p.L1212L	CACNA1E_uc001gow.3_Silent_p.L1212L|CACNA1E_uc009wxs.3_Silent_p.L1193L|CACNA1E_uc001gox.1_Silent_p.L438L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1212					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						AGGCTTGATCCTGCAGGATGG	0.512000														130			46		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140735225	140735225	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140735225C>T	uc003ljq.2	+	0	458	c.458C>T	c.(457-459)cCt>cTt	p.P153L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.P153L	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	153	Cadherin 2.				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)			GCAAGATTTCCTCTTCCTGAA	0.458000														35			7		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40648100	40648100	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:40648100G>A	uc002yxk.2	-	12	1440	c.1145_splice	c.e12+1	p.R382_splice	BRWD1_uc021wjf.1_Splice_Site_p.R382_splice|BRWD1_uc010goe.1_Splice_Site|BRWD1_uc010gof.1_Splice_Site|BRWD1_uc010gog.1_Splice_Site|BRWD1_uc010goh.1_Splice_Site|BRWD1_uc010goi.1_Splice_Site_p.R102_splice	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CACACTTACCGATCACCATTG	0.328000														97			39		0	0	1	0	0
ARRDC4	91947	broad.mit.edu	37	15	98513881	98513881	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:98513881C>T	uc010bom.3	+	6	1267	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	ARRDC4_uc002bui.4_Missense_Mutation_p.P283S	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA.	370					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TCCTCCTTACCCTCAACCCCC	0.438000														69			70		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113679953	113679953	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113679953G>A	uc001poh.3	-	16	2029	c.1996C>T	c.(1996-1998)Caa>Taa	p.Q666*	USP28_uc001pog.3_Nonsense_Mutation_p.Q374*|USP28_uc010rwy.2_Nonsense_Mutation_p.Q541*|USP28_uc001poi.3_Nonsense_Mutation_p.Q21*	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	666					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCTGACATTTGATCTGATTCA	0.438000														311			124		0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671842	45671842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:45671842G>A	uc021qgn.1	-	0	632	c.632C>T	c.(631-633)cCc>cTc	p.P211L	CHST1_uc001mys.2_Missense_Mutation_p.P211L	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	211					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GTTCACCTCGGGCACGCGCAC	0.682000														23			27		0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89537460	89537460	+	Missense_Mutation	SNP	C	T	T	rs141552770		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:89537460C>T	uc001pdb.3	-	2	507	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	60						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTATCTGCTCGGTTGACTTT	0.463000														97			25		0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99917296	99917296	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:99917296G>A	uc004egb.3	+	3	767	c.287G>A	c.(286-288)cGa>cAa	p.R96Q		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	96	Sushi 1.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CGGGGCTTTCGATTGATTGGA	0.537000														79			18		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169819815	169819815	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169819815G>A	uc011cjx.2	+	13	2633	c.2422G>A	c.(2422-2424)Gga>Aga	p.G808R	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Missense_Mutation_p.G791R|PALLD_uc003irv.3_Missense_Mutation_p.G409R|PALLD_uc003irw.3_Missense_Mutation_p.G304R|PALLD_uc003irx.3_Missense_Mutation_p.G17R	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	1015	Interaction with ARGBP2, SPIN90, SRC and PFN1.|Interaction with EPS8 (By similarity).|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GATCTTTGAGGGAATGCCAGT	0.433000									Pancreatic Cancer, Familial Clustering of					75			19		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94028396	94028396	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94028396G>A	uc003ung.1	+	4	603	c.132_splice	c.e4+1	p.R44_splice	COL1A2_uc011kib.1_Splice_Site_p.R44_splice	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	44					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)	GTGGAGAAAGGGTGTGTAATT	0.373000										HNSCC(75;0.22)				100			40		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71015363	71015363	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71015363C>T	uc002ezr.3	-	28	4589	c.4438G>A	c.(4438-4440)Gaa>Aaa	p.E1480K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1481										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)				GTGATATTTTCTGGGTCCAGG	0.478000														67			29		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25819833	25819833	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:25819833G>A	uc003gru.4	-	8	1643	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	497						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCTCCCAGGGGAAGGCTCTGC	0.552000														9			4		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18458484	18458484	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:18458484G>A	uc003cbh.3	-	2	2033	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	SATB1_uc003cbi.3_Silent_p.L100L|SATB1_uc003cbj.3_Silent_p.L100L	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	100	PDZ-like dimerization domain.				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						TTTCTCACCAGCACAAATTCT	0.428000														127			49		0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28607230	28607230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:28607230C>T	uc001bps.3	+	9	1756	c.1360C>T	c.(1360-1362)Cac>Tac	p.H454Y		NM_031459	NP_113647	P58004	SESN2_HUMAN	Homo sapiens sestrin 2 (SESN2), mRNA.	454					cell cycle arrest	cytoplasm|nucleus		p.H454H(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCAGGTCCACGTGAACTT	0.612000														66			13		0	0	1	0	0
TCRBV12S3	0	broad.mit.edu	37	7	142206725	142206725	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142206725G>A	uc003vyj.2	-	1	177	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CTCCAAGTCTGGTGACACATC	0.483000														94			50		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128341841	128341841	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:128341841G>A	uc002top.3	+	12	1541	c.1488G>A	c.(1486-1488)ctG>ctA	p.L496L		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	496	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGCCCACCCTGGACCTGCTGG	0.587000														60			16		0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55280655	55280655	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55280655C>T	uc001cyb.4	+	7	1047	c.993C>T	c.(991-993)ttC>ttT	p.F331F	C1orf177_uc001cya.4_Silent_p.F331F	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	331										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AGCCCCCATTCCTGTTGACCT	0.542000														115			50		0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24440779	24440779	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:24440779G>A	uc002kwa.3	-	3	713	c.650C>T	c.(649-651)tCc>tTc	p.S217F	AQP4_uc002kvz.3_Missense_Mutation_p.S195F	NM_001650	NP_001641	P55087	AQP4_HUMAN	Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA.	217					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AGGTCCAAAGGATCGGGCGGG	0.433000														197			11		0	0	1	0	0
MRPL44	65080	broad.mit.edu	37	2	224824592	224824592	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:224824592C>T	uc002vnr.4	+	1	590	c.521C>T	c.(520-522)gCt>gTt	p.A174V		NM_022915	NP_075066	Q9H9J2	RM44_HUMAN	Homo sapiens mitochondrial ribosomal protein L44 (MRPL44), nuclear gene encoding mitochondrial protein, mRNA.	174	RNase III.				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGAAACTTGGCTGTGGAGCAG	0.483000														112			28		0	0	1	0	0
CTAG2	30848	broad.mit.edu	37	X	153880896	153880896	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:153880896C>T	uc004fmi.2	-	1	343	c.279G>A	c.(277-279)acG>acA	p.T93T	CTAG2_uc004fmh.2_Silent_p.T93T	NM_020994	NP_066274	O75638	CTAG2_HUMAN	Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.	93						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGAAAGGCATCGTGATGTGCC	0.642000														19			23		0	0	1	0	0
PSMC3	5702	broad.mit.edu	37	11	47447451	47447451	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:47447451G>A	uc001nfh.2	-	1	320	c.126C>T	c.(124-126)atC>atT	p.I42I		NM_002804	NP_002795	P17980	PRS6A_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA.	42					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTGTGCGCTGGATGATCTCCT	0.532000														69			27		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4808358	4808358	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:4808358G>A	uc003bqc.3	+	43	5994	c.5644G>A	c.(5644-5646)Gat>Aat	p.D1882N	ITPR1_uc021wsi.1_Missense_Mutation_p.D1849N|ITPR1_uc021wsj.1_Missense_Mutation_p.D1834N|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1897					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AAAGAAAGACGATGAGGTAGA	0.438000														37			21		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43214429	43214429	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43214429G>A	uc003ouq.1	+	1	310	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	11						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCTTAAGGACGAAACCAACAT	0.667000														40			12		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107048762	107048762	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:107048762G>A	uc021ser.1	-	169		c.7268C>T								Parts of antibodies, mostly variable regions.																		TGGAGATGGTGAATCGGCCCT	0.542000														393			52		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508298	106508298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:106508298C>T	uc003vdv.4	+	1	377	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L	PIK3CG_uc003vdu.3_Silent_p.L98L|PIK3CG_uc003vdw.3_Silent_p.L98L	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	98					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCACTTCCTCCTGCTCTATCA	0.627000														30			9		0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63257495	63257495	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:63257495G>A	uc011cqt.2	-	0	52	c.52C>T	c.(52-54)Ccc>Tcc	p.P18S		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	18					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GTCTCAAAGGGAGCCGGTGGT	0.622000														67			21		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48729266	48729266	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:48729266C>T	uc001zwx.2	-	52	6783	c.6388G>A	c.(6388-6390)Gaa>Aaa	p.E2130K	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2130	EGF-like 36; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCTTTGCATTCGTCCATATCT	0.343000														53			16		0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043645	71043645	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71043645C>T	uc002shf.3	-	3	945	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	CLEC4F_uc010yqv.1_Missense_Mutation_p.E290K	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	290					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGCAAATTTTCCTTTAGTCCC	0.418000														157			55		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013055	99013055	+	Silent	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:99013055G>C	uc010fij.3	+	7	1575	c.1434G>C	c.(1432-1434)ctG>ctC	p.L478L	CNGA3_uc002syt.3_Silent_p.L474L|CNGA3_uc002syu.3_Silent_p.L456L			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	474					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ACGTGCACCTGGACACGCTGA	0.577000														21			5		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115341664	115341664	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115341664G>A	uc001lai.4	+	8	971	c.868G>A	c.(868-870)Gag>Aag	p.E290K	HABP2_uc021pyr.1_Missense_Mutation_p.E264K|HABP2_uc010qrz.1_Intron	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	290					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AAGCCCCACTGAGCCATCAAC	0.527000														162			58		0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83456109	83456109	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83456109C>T	uc002bjd.2	-	1	201	c.34G>A	c.(34-36)Gac>Aac	p.D12N	FSD2_uc010uol.1_Missense_Mutation_p.D12N|FSD2_uc010uom.1_Missense_Mutation_p.D12N	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	12										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GTAGACCTGTCCAGCCCCAGT	0.468000														63			64		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11216169	11216169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11216169C>T	uc002mqk.4	+	3	774	c.587C>T	c.(586-588)cCc>cTc	p.P196L	LDLR_uc010xlk.2_Missense_Mutation_p.P196L|LDLR_uc010xll.2_Missense_Mutation_p.P155L|LDLR_uc021upc.1_Missense_Mutation_p.P75L|LDLR_uc010xln.2_Intron|LDLR_uc010xlo.2_Intron|LDLR_uc010xlm.2_Missense_Mutation_p.P49L|LDLR_uc021upd.1_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	196	LDL-receptor class A 5.				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.?(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)	GACAGTAGCCCCTGCTCGGCC	0.617000														50			26		0	0	1	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315552	73315552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:73315552C>T	uc002siu.4	-	2	1435	c.1194G>A	c.(1192-1194)gaG>gaA	p.E398E	RAB11FIP5_uc002sit.4_Silent_p.E320E	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	398					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CAAGCACTGCCTCTGAGCTGC	0.647000														75			18		0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75408264	75408264	+	Silent	SNP	C	T	T	rs71471632		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:75408264C>T	uc001jut.4	-	3	1298	c.1146G>A	c.(1144-1146)gaG>gaA	p.E382E	SYNPO2L_uc001jus.4_Silent_p.E158E	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	382						cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCCCAGAGACCTCACTCAGCT	0.637000														74			26		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2057320	2057320	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2057320G>A	uc003wpx.4	+	24	3316	c.3178G>A	c.(3178-3180)Gag>Aag	p.E1060K	MYOM2_uc011kwi.2_Missense_Mutation_p.E485K	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1060					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTCTGACAGCGAGGTGAGTTC	0.473000														42			16		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9337875	9337875	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:9337875G>A	uc003jek.2	-	3	886	c.174C>T	c.(172-174)ttC>ttT	p.F58F		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	58	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TTAACTGCGAGAAATCCACAG	0.343000														93			26		0	0	1	0	0
MIOX	55586	broad.mit.edu	37	22	50927994	50927995	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50927994_50927995CC>TT	uc003bll.1	+	8	784_785	c.670_671CC>TT	c.(670-672)ccc>TTc	p.P224F	MIOX_uc003blm.1_Missense_Mutation_p.P224F|MIOX_uc003bln.1_Intron	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	Homo sapiens myo-inositol oxygenase (MIOX), mRNA.	224					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCCTTCTACCCCTGGCACACG	0.678000														29			16		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20576124	20576124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20576124C>T	uc002dhj.4	-	2	254	c.44G>A	c.(43-45)gGt>gAt	p.G15D	ACSM2B_uc002dhk.4_Missense_Mutation_p.G15D|ACSM2B_uc010bwf.1_Missense_Mutation_p.G15D	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	15					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CATCTGAGTACCCCACAGGGT	0.493000														55			16		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841800	70841800	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:70841800G>A	uc002ezr.3	-	85	15197	c.15046C>T	c.(15046-15048)Ctc>Ttc	p.L5016F	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	5017										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)				ATTCCAAAGAGGGGGATGATA	0.537000														69			31		0	0	1	0	0
LOC285501	285501	broad.mit.edu	37	4	178897018	178897018	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:178897018G>A	uc010iru.3	+	4		c.683G>A								Homo sapiens uncharacterized LOC285501 (LOC285501), non-coding RNA.														all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236)		all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884)		ACGGGAAAGGGGTTGAGCAAG	0.403000														102			41		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26694975	26694976	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26694975_26694976CC>TT	uc003acb.3	+	4	1384_1385	c.1188_1189CC>TT	c.(1186-1191)ccccgc>ccTTgc	p.R397C	SEZ6L_uc003acd.3_Missense_Mutation_p.R397C|SEZ6L_uc011akd.2_Missense_Mutation_p.R397C|SEZ6L_uc003ace.3_Missense_Mutation_p.R397C|SEZ6L_uc011akc.2_Missense_Mutation_p.R397C|SEZ6L_uc003acc.3_Missense_Mutation_p.R397C|SEZ6L_uc003acf.1_Missense_Mutation_p.R170C|SEZ6L_uc010gvc.1_Missense_Mutation_p.R170C	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	397	Sushi 1.					endoplasmic reticulum membrane|integral to membrane		p.R397H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCAACTTTCCCCGCCGGCCTGA	0.584000														49			20		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197446859	197446859	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197446859G>A	uc001gtz.3	+	11	4280	c.4071G>A	c.(4069-4071)ctG>ctA	p.L1357L	CRB1_uc010poz.2_Silent_p.L1333L|CRB1_uc009wza.3_Silent_p.L1245L|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.L821L|CRB1_uc010ppd.2_Silent_p.L838L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1357					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCTTGTTACTGATCCTCTTGC	0.502000														53			10		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693284	94693284	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:94693284G>A	uc011cdt.2	+	15	2917	c.2659G>A	c.(2659-2661)Gat>Aat	p.D887N	GRID2_uc011cdu.2_Missense_Mutation_p.D792N	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	887					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTTGTGCACAGATGACGACAG	0.448000														126			62		0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	946159	946159	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:946159C>T	uc003gbq.3	+	6	481	c.383C>T	c.(382-384)tCg>tTg	p.S128L	TMEM175_uc010ibl.1_Missense_Mutation_p.S128L|TMEM175_uc003gbp.1_Missense_Mutation_p.S46L|TMEM175_uc003gbs.3_Missense_Mutation_p.S11L|TMEM175_uc003gbt.3_Missense_Mutation_p.S11L|TMEM175_uc003gbr.3_Missense_Mutation_p.S46L	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	128						integral to membrane		p.S128L(2)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TAACAGTTTTCGTTAATGGTG	0.562000														140			27		0	0	1	0	0
PAQR5	54852	broad.mit.edu	37	15	69689814	69689814	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:69689814G>A	uc002arz.2	+	6	898	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	PAQR5_uc002asa.2_Missense_Mutation_p.E174K	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN	Homo sapiens progestin and adipoQ receptor family member V (PAQR5), transcript variant 2, mRNA.	174					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						TAGGTTTCTTGAAATCCAGAA	0.502000														88			65		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24923865	24923865	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24923865C>T	uc001ywo.3	+	0	3325	c.2851C>T	c.(2851-2853)Cca>Tca	p.P951S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	951					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)		GTTAACATCACCATATACTGC	0.478000														65			24		0	0	1	0	0
PBLD	64081	broad.mit.edu	37	10	70044033	70044033	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:70044033G>A	uc001jns.1	-	9	971	c.768C>T	c.(766-768)tcC>tcT	p.S256S	PBLD_uc001jnr.1_Silent_p.S223S|PBLD_uc001jnt.1_Silent_p.S256S	NM_022129	NP_071412	P30039	PBLD_HUMAN	Homo sapiens phenazine biosynthesis-like protein domain containing (PBLD), transcript variant 1, mRNA.	256					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTCCTCGGTGGGAACACTGAA	0.413000														68			6		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41323603	41323603	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:41323603C>T	uc001rmm.1	+	6	615	c.502C>T	c.(502-504)Ctt>Ttt	p.L168F	CNTN1_uc009zjy.2_Missense_Mutation_p.L168F|CNTN1_uc001rmn.1_Missense_Mutation_p.L157F|CNTN1_uc001rmo.3_Missense_Mutation_p.L168F	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	168	Ig-like C2-type 2.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CCTAGATGATCTTAGCTATCG	0.338000														49			8		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71092118	71092118	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:71092118C>T	uc001swi.2	-	7	1620	c.1206G>A	c.(1204-1206)atG>atA	p.M402I	PTPRR_uc001swh.2_Missense_Mutation_p.M157I|PTPRR_uc009zrs.3_Missense_Mutation_p.M196I|PTPRR_uc010stq.2_Missense_Mutation_p.M290I|PTPRR_uc010str.1_Missense_Mutation_p.M251I	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	402	Tyrosine-protein phosphatase.				in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CCACAAAGTTCATTGGTATTT	0.338000														56			19		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540249	169540249	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:169540249C>T	uc003fgb.3	+	0	540	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	180										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTGAAGTTTTCCCCCAGGAGC	0.517000														86			34		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86124487	86124487	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:86124487C>T	uc002blv.1	+	6	3358	c.3188C>T	c.(3187-3189)tCt>tTt	p.S1063F	AKAP13_uc002blt.1_Missense_Mutation_p.S1063F|AKAP13_uc002blu.1_Missense_Mutation_p.S1063F|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1063					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGTCAGCCTTCTCCTCTGGAT	0.532000														113			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582503	179582503	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179582503C>T	uc021vsy.1	-	83	21591	c.21366G>A	c.(21364-21366)ctG>ctA	p.L7122L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L3783L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8049	Ig-like 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)			GAACGTCTTTCAGTTTTCTTG	0.418000														26			7		0	0	1	0	0
IL36G	56300	broad.mit.edu	37	2	113736846	113736846	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113736846G>A	uc002tio.1	+	2	173	c.104G>A	c.(103-105)tGg>tAg	p.W35*	IL36G_uc010fkr.1_Intron	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	Homo sapiens interleukin 36, gamma (IL36G), mRNA.	35					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CAGCAAGTGTGGACCCTTCAG	0.448000														59			12		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831429	61831429	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61831429G>A	uc001jky.3	-	36	9548	c.9210C>T	c.(9208-9210)ccC>ccT	p.P3070P	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.	3070					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						ATCCATCAATGGGACTGTGGT	0.468000														139			40		0	0	1	0	0
ART5	116969	broad.mit.edu	37	11	3661201	3661201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:3661201C>T	uc001lyb.1	-	1	851	c.458G>A	c.(457-459)gGa>gAa	p.G153E	ART5_uc001lyc.1_Missense_Mutation_p.G153E|ART5_uc001lyd.3_Missense_Mutation_p.G153E|ART5_uc009yea.3_Missense_Mutation_p.G153E	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	153						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCCCAGGTCCCCTGCTGCA	0.637000														38			26		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126138986	126138986	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:126138986G>A	uc010hsg.1	+	9	1058	c.999G>A	c.(997-999)acG>acA	p.T333T	CCDC37_uc003eiu.1_Silent_p.T332T	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	332								p.T332T(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TTCTGCAGACGATGCGGCTGG	0.647000														28			8		0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124253036	124253036	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124253036G>A	uc010sai.2	-	0	204	c.204C>T	c.(202-204)ttC>ttT	p.F68F	OR8B2_uc001qab.3_Non-coding_Transcript	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		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;0.0277)		AGAGATCAATGAAGGAGAGAT	0.408000														142			51		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29039818	29039818	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29039818G>A	uc002kws.3	+	5	637	c.528G>A	c.(526-528)gtG>gtA	p.V176V		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	176	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACTCACTGGTGATGATACTAA	0.353000														50			17		0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44222779	44222779	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44222779G>A	uc002oxh.3	+	1	216	c.69G>A	c.(67-69)agG>agA	p.R23R	IRGC_uc021uvh.1_Silent_p.R23R	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	23						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCAAGGAAAGGCTGGAGGCCC	0.642000														85			40		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95947690	95947690	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:95947690G>A	uc002suk.3	+	12	1702	c.1569G>A	c.(1567-1569)ggG>ggA	p.G523G	PROM2_uc002suh.2_Silent_p.G523G|PROM2_uc002sui.3_Silent_p.G523G|PROM2_uc002suj.3_Silent_p.G177G|PROM2_uc002sul.3_Silent_p.G49G|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	523						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						ACACCCCAGGGAACCTGCCCC	0.627000														113			8		0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96961310	96961310	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:96961310G>A	uc002svu.3	-	13	1890	c.1758C>T	c.(1756-1758)atC>atT	p.I586I		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	586	Helicase ATP-binding 1.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGGTGCAGACGATGATCTGAG	0.572000														49			18		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84488747	84488747	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:84488747G>A	uc002bjz.4	+	5	772	c.548G>A	c.(547-549)gGa>gAa	p.G183E	ADAMTSL3_uc002bjy.1_Missense_Mutation_p.G183E|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G183E	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	183						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTACTGGATGGAACTCGTTGC	0.532000														69			18		0	0	1	0	0
C1orf141	400757	broad.mit.edu	37	1	67559037	67559037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:67559037G>A	uc001ddl.1	-	6	965	c.854C>T	c.(853-855)tCt>tTt	p.S285F	C1orf141_uc001ddm.1_Missense_Mutation_p.S285F|C1orf141_uc001ddn.1_Non-coding_Transcript	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.	285										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						CGCTTTAAAAGACATAGGGAT	0.333000														107			25		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54959231	54959231	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:54959231G>A	uc003dhl.3	-	1	153	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	7						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CTGGAAAACAGGAGCAGTTCA	0.463000														37			10		0	0	1	0	0
ATG4C	84938	broad.mit.edu	37	1	63282323	63282323	+	Missense_Mutation	SNP	C	T	T	rs146646910		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:63282323C>T	uc001dat.3	+	3	426	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	ATG4C_uc001dau.3_Missense_Mutation_p.R80C	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog C (S. cerevisiae) (ATG4C), transcript variant 2, mRNA.	80					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						AGAAGAATTTCGTAAAGATTT	0.398000														88			8		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179604982	179604982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179604982G>A	uc010pnp.2	+	8	1998	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N	TDRD5_uc021pfm.1_Missense_Mutation_p.D494N|TDRD5_uc001gnf.2_Missense_Mutation_p.D494N|TDRD5_uc021pfn.1_Missense_Mutation_p.D494N|TDRD5_uc001gnh.2_Missense_Mutation_p.D49N	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	494					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.D494D(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CTATAGCAGGGATTCGTCAGA	0.408000														57			30		0	0	1	0	0
ABI3	51225	broad.mit.edu	37	17	47299583	47299583	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:47299583G>A	uc002iop.1	+	6	1431	c.933G>A	c.(931-933)gaG>gaA	p.E311E	ABI3_uc002ioq.1_Silent_p.E305E	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	311	SH3.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CATACTTGGAGAAAGGTACCT	0.592000										HNSCC(55;0.14)				73			27		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532019	50532019	+	Missense_Mutation	SNP	G	A	A	rs141342139	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50532019G>A	uc021pqb.1	+	0	1429	c.1429G>A	c.(1429-1431)Gga>Aga	p.G477R	C10orf71_uc021pqa.1_Missense_Mutation_p.G476R|C10orf71_uc021pqc.1_Missense_Mutation_p.G477R	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	477										endometrium(1)	1						ACAGCTAAACGGATACCAAGA	0.572000														26			7		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74973960	74973960	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:74973960C>T	uc001xqa.3	-	25	4216	c.3829G>A	c.(3829-3831)Gaa>Aaa	p.E1277K		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1277	Cys-rich.|EGF-like 14; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGCTGTTTTCACACTTCCAG	0.592000														87			27		0	0	1	0	0
MAP4K5	11183	broad.mit.edu	37	14	50912805	50912805	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:50912805G>A	uc001wya.3	-	16	1497	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S	MAP4K5_uc001wyb.3_Missense_Mutation_p.P393S|MAP4K5_uc010anv.1_Missense_Mutation_p.P393S|MAP4K5_uc001wyc.1_Missense_Mutation_p.P67S	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 5 (MAP4K5), transcript variant 1, mRNA.	393					activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					ACCTTAGGAGGTAGGGGAGGT	0.284000														35			5		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22061092	22061092	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:22061092G>A	uc001rfh.3	-	8	1394	c.1374C>T	c.(1372-1374)gtC>gtT	p.V458V	ABCC9_uc001rfi.1_Silent_p.V458V	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	458	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGCTGCACCGACCAATGCAC	0.413000														40			21		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41159280	41159280	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41159280C>T	uc003jmk.2	-	11	1970	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	C6_uc003jml.1_Missense_Mutation_p.R587Q	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	587	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				ATTGCATTCTCGGGTTCTCGA	0.493000														95			32		0	0	1	0	0
C8orf80	389643	broad.mit.edu	37	8	27925193	27925193	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:27925193C>T	uc003xgm.4	-	5	692	c.549G>A	c.(547-549)gaG>gaA	p.E183E		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	183						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		ACGCATCTGCCTCTTCTCTGC	0.537000														34			9		0	0	1	0	0
CTSL2	1515	broad.mit.edu	37	9	99800311	99800311	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:99800311G>A	uc010msi.3	-	1	222	c.15C>T	c.(13-15)ctC>ctT	p.L5L	CTSL2_uc004awt.3_Silent_p.L5L|CTSL2_uc004awu.3_5'UTR|CTSL2_uc010msj.2_5'UTR|CTSL2_uc010msk.3_5'UTR	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	5						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				CAGCCAGGACGAGCGAAAGAT	0.418000														68			24		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94722800	94722800	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94722800G>A	uc001ycs.1	+	16	2023	c.1869G>A	c.(1867-1869)atG>atA	p.M623I		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	623						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ATTGTAGAATGAAACTTTGCT	0.333000														25			16		0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241812439	241812439	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241812439G>A	uc002waa.4	+	4	689	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	AGXT_uc010zoi.1_Missense_Mutation_p.G190R	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	190			G -> R (in HP1).		glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	p.G190R(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ATCCCTGGGCGGGACCCCCCT	0.662000														120			14		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54792345	54792345	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:54792345G>A	uc021smr.1	+	18	5123	c.5123G>A	c.(5122-5124)gGa>gAa	p.G1708E	UNC13C_uc021sms.1_Missense_Mutation_p.G1710E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1710	MHD1.				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)		TTCCTTCATGGAGCACTGGGA	0.353000														24			6		0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99153491	99153491	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:99153491G>A	uc001knf.3	-	3	619	c.480C>T	c.(478-480)tcC>tcT	p.S160S	RRP12_uc009xvm.3_5'Flank|RRP12_uc010qou.2_Intron|RRP12_uc009xvn.3_Intron	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	160						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGGACTCCGGGGACTCCACTG	0.527000														60			18		0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102302440	102302440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:102302440C>T	uc001duf.2	-	1	342	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	OLFM3_uc001dug.2_Missense_Mutation_p.E71K|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_5'UTR|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	91						extracellular region		p.D90Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CCTACCTTTTCCAGTAGTTGG	0.448000														101			53		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77431653	77431653	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77431653G>A	uc004ajl.1	-	10	1478	c.1240C>T	c.(1240-1242)Ctg>Ttg	p.L414L	TRPM6_uc004ajk.1_Silent_p.L409L|TRPM6_uc022bib.1_Silent_p.L409L|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.L414L|TRPM6_uc010mpd.1_Silent_p.L414L|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	414					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCCATTGCCAGATTTAATTGC	0.363000														78			24		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35624433	35624433	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:35624433C>A	uc003xjr.2	+	14	2655	c.2327C>A	c.(2326-2328)tCc>tAc	p.S776Y	UNC5D_uc003xjs.2_Missense_Mutation_p.S771Y|UNC5D_uc003xju.2_Missense_Mutation_p.S352Y	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	776					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTCCCGTTCTCCCGCGTGTGG	0.562000														44			9		0.00621372	0.00621678	1	1	0
INHBC	3626	broad.mit.edu	37	12	57828693	57828693	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57828693C>T	uc001snv.1	+	0	151	c.24C>T	c.(22-24)gcC>gcT	p.A8A		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	8					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						TGCTTCTGGCCTTTCTCCTCC	0.602000														39			7		0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15890615	15890615	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15890615G>A	uc002nbo.3	-	0		c.184C>T								Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		ATAGGTCCAGGCCAGGAAGCC	0.627000														46			13		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071520	240071520	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240071520G>A	uc021plc.1	+	0	769	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	CHRM3_uc001hyp.3_Missense_Mutation_p.E257K	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	257					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GATCTATAAGGAAACTGAAAA	0.483000														88			32		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10436605	10436605	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10436605C>T	uc010coi.3	-	20	2566	c.2438G>A	c.(2437-2439)aGa>aAa	p.R813K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R813K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	813	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTATACCTTCTCTCCACCAT	0.433000														61			51		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231373	21231373	+	Silent	SNP	G	A	A	rs149734450		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21231373G>A	uc002red.3	-	25	8495	c.8367C>T	c.(8365-8367)atC>atT	p.I2789I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2789					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGAAGCTGCGATACCTGCTT	0.413000														121			66		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34040696	34040696	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34040696G>A	uc001zhi.3	+	54	8234	c.8164G>A	c.(8164-8166)Gac>Aac	p.D2722N	RYR3_uc010bar.3_Missense_Mutation_p.D2722N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2722	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGCTCCCCTCGACCTCTCAAA	0.517000														17			9		0	0	1	0	0
OLIG3	167826	broad.mit.edu	37	6	137815305	137815305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:137815305C>T	uc003qhp.1	-	0	227	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA.	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AATCAGAATTCATTTTATTAC	0.493000														39			28		0	0	1	0	0
GNA12	2768	broad.mit.edu	37	7	2770902	2770902	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:2770902G>A	uc003smu.3	-	3	1223	c.1059C>T	c.(1057-1059)gcC>gcT	p.A353A	GNA12_uc011jwb.2_Silent_p.A336A|GNA12_uc003smt.3_Silent_p.A294A	NM_007353	NP_031379	Q03113	GNA12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein) alpha 12 (GNA12), mRNA.	353					G-protein signaling, coupled to cAMP nucleotide second messenger|Rho protein signal transduction|platelet activation	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		CGGTGTCGATGGCGGTGGTGA	0.597000														57			26		0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88910219	88910219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:88910219C>T	uc001tav.3	-	4	607	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	KITLG_uc009zsn.3_Intron|KITLG_uc001taw.3_Missense_Mutation_p.E138K|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	138					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						AAGAATTCTTCAGGAGTAAAG	0.343000									Testicular Cancer, Familial Clustering of					68			12		0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17332635	17332635	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:17332635C>T	uc003zmz.2	+	9	1577	c.1551C>T	c.(1549-1551)tcC>tcT	p.S517S	CNTLN_uc003zmy.3_Silent_p.S517S|CNTLN_uc010mio.3_Silent_p.S196S	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	517						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GGTCTTTGTCCCCAAAGAGCT	0.398000														58			31		0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218940025	218940025	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:218940025G>A	uc010fvl.2	+	8	1328	c.810G>A	c.(808-810)ggG>ggA	p.G270G	RUFY4_uc002vgw.3_Silent_p.G97G	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	270							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGCCAGAAGGGAAGGAGCTTC	0.547000														12			4		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183446550	183446550	+	Silent	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183446550C>G	uc003fly.2	+	6	918	c.723C>G	c.(721-723)tcC>tcG	p.S241S		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	241	YEATS.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCCGAGGGTCCCGTAGAGAAC	0.413000														85			10		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35993899	35993899	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:35993899G>A	uc004ddj.3	+	14	2648	c.2582G>A	c.(2581-2583)cGa>cAa	p.R861Q	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	861										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTGAGACCACGAGGCTTCTTC	0.433000														84			54		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165948992	165948992	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:165948992C>T	uc002ucx.3	-	26	5071	c.4579G>A	c.(4579-4581)Gtc>Atc	p.V1527I	SCN3A_uc010zcy.2_Missense_Mutation_p.V10I|SCN3A_uc002ucy.3_Missense_Mutation_p.V1478I|SCN3A_uc002ucz.3_Missense_Mutation_p.V1478I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1527						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATATCAAAGACTTGTCTGGTT	0.383000														46			20		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116548684	116548684	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:116548684T>G	uc002tle.3	+	17	1592	c.1571T>G	c.(1570-1572)aTg>aGg	p.M524R	DPP10_uc002tla.2_Missense_Mutation_p.M520R|DPP10_uc002tlb.2_Missense_Mutation_p.M470R|DPP10_uc002tlc.2_Missense_Mutation_p.M516R|DPP10_uc002tlf.2_Missense_Mutation_p.M513R	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	520					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.M513T(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGCAATTCTATGCTGAAGGAA	0.328000														48			14		0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33195256	33195256	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:33195256C>T	uc003tdn.1	+	3	783	c.270C>T	c.(268-270)acC>acT	p.T90T	BBS9_uc003tdo.1_Silent_p.T90T|BBS9_uc003tdp.1_Silent_p.T90T|BBS9_uc003tdq.1_Silent_p.T90T|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc011kan.1_Silent_p.T90T|BBS9_uc011kao.1_5'Flank	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	90					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TCAGAGGTACCGAAATGCTAC	0.289000									Bardet-Biedl syndrome					32			9		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203708726	203708726	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203708726C>T	uc001gzw.3	+	20	4259	c.3362C>T	c.(3361-3363)cCc>cTc	p.P1121L	ATP2B4_uc001gzv.3_3'UTR|ATP2B4_uc001gzx.3_Missense_Mutation_p.P188L|ATP2B4_uc009xar.3_3'UTR	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	1157					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATTCAGAAACCCTACAACCAA	0.483000														92			33		0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453372	21453372	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21453372C>T	uc001rer.3	-	6	1071	c.820G>A	c.(820-822)Gga>Aga	p.G274R	SLCO1A2_uc010siq.2_Missense_Mutation_p.G142R|SLCO1A2_uc001res.3_Missense_Mutation_p.G274R|SLCO1A2_uc010sio.2_Missense_Mutation_p.G142R|SLCO1A2_uc010sip.2_Missense_Mutation_p.G142R|SLCO1A2_uc001ret.3_Missense_Mutation_p.G272R|SLCO1A2_uc001reu.2_Missense_Mutation_p.G254R	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	274					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GTCTCTAGTCCTTCCTTTGGA	0.388000														52			13		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417779	150417779	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150417779G>A	uc003whq.3	+	2	827	c.687G>A	c.(685-687)caG>caA	p.Q229Q	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		AGCTGGCGCAGGTGCTGCGCT	0.706000														11			5		0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31608409	31608409	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31608409G>A	uc003akh.3	+	1	161	c.16_splice	c.e1+1	p.G6_splice	LIMK2_uc003aki.3_Splice_Site_p.G6_splice	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	6						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CCGCGCTGGCGGGTAAGGAAG	0.672000														22			14		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63517538	63517538	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63517538C>T	uc001nxq.3	+	3	2793	c.2606C>T	c.(2605-2607)tCc>tTc	p.S869F	RTN3_uc001nxp.3_Missense_Mutation_p.S73F|RTN3_uc009yov.3_Missense_Mutation_p.S757F|RTN3_uc010rmt.2_Non-coding_Transcript|RTN3_uc010rmu.2_Missense_Mutation_p.S73F|RTN3_uc001nxm.3_Missense_Mutation_p.S92F|RTN3_uc001nxn.3_Missense_Mutation_p.S850F|RTN3_uc001nxo.3_Missense_Mutation_p.S73F	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	869	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ATGCTGCTTTCCCTGGCAGCT	0.468000														42			12		0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661745	36661745	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:36661745G>A	uc003ape.3	+	6	1185	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	APOL1_uc011amn.1_Missense_Mutation_p.R165Q|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Missense_Mutation_p.R165Q|APOL1_uc003apf.3_Missense_Mutation_p.R288Q|APOL1_uc011amp.2_Missense_Mutation_p.R288Q|APOL1_uc011amq.2_Missense_Mutation_p.R270Q|APOL1_uc010gwx.3_Missense_Mutation_p.R165Q	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	288					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						GCCCTCAGACGAGCCAGAGCC	0.537000														83			29		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50266481	50266481	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50266481C>T	uc002ppm.3	-	0	35	c.24G>A	c.(22-24)acG>acA	p.T8T		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	8							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		ACTGCCAGATCGTCTTCACCA	0.647000														92			52		0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10255195	10255195	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10255195G>A	uc003bve.1	+	5	827	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	251	Protein kinase.				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|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AGGATCAATCGAAAGATTCTT	0.468000														102			9		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769386	247769386	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247769386C>T	uc010pyz.2	+	0	499	c.499C>T	c.(499-501)Cct>Tct	p.P167S		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTTGCAATTGCCTCTCTGTGG	0.473000														80			37		0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34025231	34025231	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34025231C>T	uc010gfc.1	-	0	719	c.478G>A	c.(478-480)Gag>Aag	p.E160K	GDF5_uc002xck.1_Missense_Mutation_p.E160K	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	160					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CGAAACGGCTCCTTGGGCTCT	0.632000														89			24		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38516566	38516566	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:38516566G>A	uc003tgu.3	-	5	616	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	AMPH_uc003tgv.3_Missense_Mutation_p.R134C	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	134	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTGGCGATGCGATTCTGTCAA	0.522000														60			19		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303861	151303861	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151303861C>T	uc022cgz.1	-	0	232	c.232G>A	c.(232-234)Gat>Aat	p.D78N	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.D78N|MAGEA10_uc004ffm.2_Missense_Mutation_p.D78N|MAGEA10_uc004ffl.3_Missense_Mutation_p.D78N	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	78										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGTCTCATCATCAGCAGAA	0.542000														57			70		0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190340087	190340087	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:190340087G>A	uc002uql.1	+	20	2497	c.2437G>A	c.(2437-2439)Gaa>Aaa	p.E813K	WDR75_uc002uqm.1_Missense_Mutation_p.E749K|WDR75_uc002uqn.1_Missense_Mutation_p.E591K	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	813						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AAAATCTGAAGAAAAAGAACT	0.368000														50			9		0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19981479	19981479	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:19981479C>T	uc002wro.2	+	11	2883	c.2734C>T	c.(2734-2736)Cga>Tga	p.R912*	RIN2_uc010gcu.2_Nonsense_Mutation_p.R430*|RIN2_uc010gcv.2_Nonsense_Mutation_p.R657*	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	863					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GCTGCACAGCCGACCACAGCC	0.522000														64			13		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152382199	152382199	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152382199G>A	uc001ezx.2	-	2	1433	c.1359C>T	c.(1357-1359)ctC>ctT	p.L453L		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	453					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTCCAGCCTGAGGATCACTG	0.572000														87			30		0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171686121	171686121	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:171686121C>T	uc002ugi.3	+	3	704	c.282C>T	c.(280-282)gaC>gaT	p.D94D	GAD1_uc002ugh.3_Silent_p.D94D	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	94					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAGAGACTGACTTCTCTAATC	0.517000														103			33		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114111043	114111043	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:114111043G>A	uc003ynu.3	-	4	1018	c.859C>T	c.(859-861)Caa>Taa	p.Q287*	CSMD3_uc003ynt.3_Nonsense_Mutation_p.Q247*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.Q287*|CSMD3_uc010mcx.1_Nonsense_Mutation_p.Q287*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	287	CUB 2.					integral to membrane|plasma membrane				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						TCTTCCATTTGAAAATCAGTA	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				56			14		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43930230	43930230	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:43930230C>T	uc001uza.4	-	7	948	c.648G>A	c.(646-648)gtG>gtA	p.V216V	ENOX1_uc001uzc.4_Silent_p.V216V|ENOX1_uc001uzb.4_Silent_p.V216V|ENOX1_uc010tfm.1_Silent_p.V29V	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	216	RRM.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGGCAAAGTCCACATGAAGGC	0.547000														59			17		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665948	19665948	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:19665948G>A	uc002wrl.3	+	11	1464	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	423	Poly-Glu.					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						gaatgatgaggaggaagagga	0.527000														54			14		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167159920	167159920	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:167159920C>T	uc003fes.1	-	8	1296	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	SERPINI2_uc003fer.1_Missense_Mutation_p.G399R|SERPINI2_uc003fet.1_Missense_Mutation_p.G399R	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	399					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AAATCTCTTCCTTTTATCTCC	0.328000														31			16		0	0	1	0	0
PECAM1	5175	broad.mit.edu	37	17	62399301	62399301	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62399301C>T	uc002jef.2	-	1		c.1929G>A						P16284	PECA1_HUMAN	Homo sapiens platelet/endothelial cell adhesion molecule (PECAM1), mRNA.						cell adhesion|cell recognition|diapedesis|phagocytosis|platelet activation|platelet degranulation|signal transduction	cell junction|extracellular space|integral to membrane|platelet alpha granule membrane	protein binding							BRCA - Breast invasive adenocarcinoma(8;1.28e-12)			ACATGAAGGTCGTTAGAGGTC	0.507000														22			4		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102464199	102464199	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102464199G>A	uc001phc.3	-	7	1231	c.1218C>T	c.(1216-1218)acC>acT	p.T406T		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	406	Hemopexin-like 3.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CAAAGAAAAGGGTCTTCTGTG	0.388000														54			41		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53630443	53630443	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:53630443G>A	uc004dsp.3	-	26	3164	c.2762C>T	c.(2761-2763)tCc>tTc	p.S921F		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	921					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGGTTTACGGAGATGGAACG	0.418000														18			28		0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37494459	37494459	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37494459C>A	uc003aqt.1	-	2	395	c.333G>T	c.(331-333)aaG>aaT	p.K111N	TMPRSS6_uc003aqs.1_Missense_Mutation_p.K120N|TMPRSS6_uc003aqu.3_Missense_Mutation_p.K111N	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	120					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TTCCTACCATCTTCTGGGCTT	0.557000														283			121		4.38229e-66	4.41136e-66	1	1	0
GJA9	81025	broad.mit.edu	37	1	39341152	39341152	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:39341152C>T	uc021olr.1	-	0	619	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.3_5'Flank|MYCBP_uc021olq.1_Intron	NM_030772	NP_110399	P57773	CXA9_HUMAN	Homo sapiens gap junction protein, alpha 9, 59kDa (GJA9), mRNA.	207					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			ATTGTCTTTTCTGTTGGTCTT	0.338000														57			29		0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25959211	25959211	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:25959211G>A	uc010ayu.3	-	9	2060	c.1954C>T	c.(1954-1956)Ctc>Ttc	p.L652F		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	652					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCAGCCTGAGAAGCATGCCG	0.672000														46			14		0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020050	56020050	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56020050C>T	uc010rjd.2	+	0	375	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTTCATTTATCGGATGTGCAA	0.358000														167			60		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123971140	123971140	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:123971140C>T	uc001lfv.3	+	8	7560	c.7200C>T	c.(7198-7200)atC>atT	p.I2400I	TACC2_uc001lfw.3_Silent_p.I546I|TACC2_uc009xzx.3_Silent_p.I2355I|TACC2_uc010qtv.2_Silent_p.I2404I|TACC2_uc001lfx.3_Silent_p.I104I|TACC2_uc001lfy.3_Silent_p.I104I|TACC2_uc001lfz.3_Silent_p.I478I|TACC2_uc001lga.3_Silent_p.I478I|TACC2_uc009xzy.3_Silent_p.I478I|TACC2_uc001lgb.3_Silent_p.I435I|TACC2_uc010qtw.1_Silent_p.I495I	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2400	SPAZ.					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)				CCTTTGAGATCCCAGCCAGTG	0.532000														104			30		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73544822	73544822	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73544822G>A	uc001jrx.4	+	40	6058	c.5668G>A	c.(5668-5670)Ggc>Agc	p.G1890S		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1893	Cadherin 18.				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						CATCACTGCGGGCAACCGCGA	0.597000														47			25		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125103744	125103744	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:125103744G>A	uc003yqw.3	+	33	4678	c.4472G>A	c.(4471-4473)gGa>gAa	p.G1491E	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1491						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCTGGATGGACCCTACTTT	0.453000														80			46		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17294426	17294426	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:17294426C>T	uc002dfa.3	-	3	1084	c.999G>A	c.(997-999)gtG>gtA	p.V333V		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	333					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGCCGTGGACCACCAGGACAA	0.562000														146			59		0	0	1	0	0
PIGN	23556	broad.mit.edu	37	18	59770101	59770101	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:59770101G>A	uc021ulb.1	-	17	1926	c.1894C>T	c.(1894-1896)Ctg>Ttg	p.L632L	PIGN_uc021ulc.1_Silent_p.L258L|PIGN_uc021uld.1_Silent_p.L258L	NM_176787	NP_789744	O95427	PIGN_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class N (PIGN), transcript variant 1, mRNA.	632					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ACAACACACAGGGATAACAGA	0.333000														12			4		0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131234714	131234714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:131234714G>A	uc004ewn.3	-	1	266	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L	FRMD7_uc011muy.2_Silent_p.L30L	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	30	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CTGCAACTCAGGTTAAACAAT	0.373000														29			46		0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186338623	186338624	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:186338623_186338624CC>TT	uc003fqk.4	+	6	1089_1090	c.1008_1009CC>TT	c.(1006-1011)ccccgg>ccTTgg	p.R337W		NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	337					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TGTCGCACCCCCGGAAAACACG	0.609000														86			28		0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24309442	24309442	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:24309442G>A	uc002nru.3	+	3	774	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	ZNF254_uc010xrk.2_Missense_Mutation_p.E129K	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	214					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CAAATGTAAAGAATGTGGAAA	0.303000														106			23		0	0	1	0	0
MICA	100507436	broad.mit.edu	37	6	31378943	31378943	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31378943C>T	uc003ntk.1	+	2	459	c.420C>T	c.(418-420)ttC>ttT	p.F140F	MICA_uc003rxz.1_Intron|MICA_uc021yun.1_Silent_p.F43F|MICA_uc021yuo.1_Silent_p.F43F	NM_001177519	NP_001170990	Q29983	MICA_HUMAN	Homo sapiens MHC class I polypeptide-related sequence A (MICA), transcript variant 1 (allele MICA*00801), mRNA.	140					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	MHC class I protein complex|cell surface|cytoplasm|extracellular space|integral to plasma membrane	natural killer cell lectin-like receptor binding	p.F140F(2)		breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GGGAGCTCTTCCTCTCCCAAA	0.537000														17			12		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740250	176740250	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176740250C>T	uc001gkz.3	+	16	5813	c.4649C>T	c.(4648-4650)aCc>aTc	p.T1550I	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1550	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GACGTGGGCACCATCTGCAAA	0.488000														50			24		0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567678	223567678	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:223567678G>A	uc001hoa.2	+	0	964	c.861G>A	c.(859-861)ctG>ctA	p.L287L		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	287										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GGGAGGAGCTGAAGCGCTCGG	0.657000														9			3		0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40698283	40698283	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40698283C>T	uc002ona.3	+	0	633	c.345C>T	c.(343-345)gcC>gcT	p.A115A		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	115	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TCTATCGGGCCCTGTGGCGTG	0.682000														21			4		0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92488054	92488054	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:92488054G>A	uc001xzy.3	-	3	808	c.434C>T	c.(433-435)tCa>tTa	p.S145L		NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	145					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ATAAGCGAATGAAGATGATGC	0.458000			T	PDGFRB	AML									41			21		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285448	48285448	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:48285448C>T	uc010rht.2	+	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						AAATAATTTTCGTGGGATTTT	0.428000														30			26		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33466940	33466940	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:33466940G>A	uc003zsz.3	-	14	2021	c.1920C>T	c.(1918-1920)ccC>ccT	p.P640P	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Silent_p.P640P|NOL6_uc010mjv.3_Silent_p.P637P|NOL6_uc011lob.2_Silent_p.P588P|NOL6_uc003ztb.1_Silent_p.P640P	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	640					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GTGCATCCAGGGGGCCCCCCA	0.517000											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		376			54		0	0	1	0	0
RHOF	54509	broad.mit.edu	37	12	122218831	122218831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:122218831C>T	uc001ubb.3	-	3	473	c.418G>A	c.(418-420)Gag>Aag	p.E140K	TMEM120B_uc001ubc.4_3'UTR|TMEM120B_uc009zxh.3_3'UTR|TMEM120B_uc001uba.1_Intron|RHOF_uc001ubd.4_Missense_Mutation_p.E140K	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	Homo sapiens ras homolog gene family, member F (in filopodia) (RHOF), mRNA.	140					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CGCAGCTGCTCCTTGTCCTTC	0.662000														25			11		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228556048	228556048	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228556048C>T	uc009xez.1	+	87	19742	c.19698C>T	c.(19696-19698)gtC>gtT	p.V6566V	OBSCN_uc001hsr.1_Silent_p.V1195V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6566	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGTCAAGGTCTACATCCAGC	0.622000														8			3		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141625347	141625347	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141625347C>T	uc002tvj.1	-	26	5363	c.4391G>A	c.(4390-4392)cGa>cAa	p.R1464Q	LRP1B_uc010fnl.1_Missense_Mutation_p.R646Q	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1464					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCATGACCTCGGATGATTTC	0.403000										TSP Lung(27;0.18)				96			30		0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72698948	72698948	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72698948C>T	uc002auq.3	+	2	343	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F	TMEM202_uc002aur.3_Non-coding_Transcript	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	115						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGCAGATTATCTCCAATATTC	0.453000														123			17		0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124593205	124593205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124593205C>T	uc001lgs.3	-	9	2585	c.1634G>A	c.(1633-1635)aGt>aAt	p.S545N	CUZD1_uc001lgp.3_Missense_Mutation_p.S264N|CUZD1_uc009yad.3_Missense_Mutation_p.S264N|CUZD1_uc009yaf.3_Missense_Mutation_p.S179N|CUZD1_uc001lgr.3_Missense_Mutation_p.S264N|CUZD1_uc010qty.2_Missense_Mutation_p.S264N|CUZD1_uc009yae.3_Missense_Mutation_p.S264N|CUZD1_uc010qtz.2_Missense_Mutation_p.S545N	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	545					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		p.R544*(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GCCACTTGCACTTCGATCCCT	0.393000														115			43		0	0	1	0	0
TUSC2	11334	broad.mit.edu	37	3	50363574	50363574	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:50363574G>A	uc003czy.1	-	2	449	c.311C>T	c.(310-312)cCt>cTt	p.P104L	TUSC2_uc003czz.1_Non-coding_Transcript	NM_007275	NP_009206	O75896	TUSC2_HUMAN	Homo sapiens tumor suppressor candidate 2 (TUSC2), mRNA.	104					cell cycle|cell proliferation|cell-cell signaling		protein binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAGGATCACAGGGAAATCCAC	0.577000														12			3		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62289169	62289169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:62289169C>T	uc003xuh.3	+	2	785	c.461C>T	c.(460-462)tCc>tTc	p.S154F	CLVS1_uc003xug.2_Missense_Mutation_p.P153S|CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	154	CRAL-TRIO.				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						TGCAGGAACTCCTTCACAGAC	0.493000														95			16		0	0	1	0	0
SYNJ2BP-COX16	100529257	broad.mit.edu	37	14	70842434	70842434	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70842434G>A	uc021rvn.1	-	2	383	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	SYNJ2BP-COX16_uc021rvm.1_Missense_Mutation_p.R86C|SYNJ2BP-COX16_uc021rvo.1_Missense_Mutation_p.R86C|SYNJ2BP-COX16_uc001xmc.4_Missense_Mutation_p.R86C	NM_001202547	NP_001189476			Homo sapiens SYNJ2BP-COX16 readthrough (SYNJ2BP-COX16), transcript variant 1, mRNA.																		CCTGCATTACGAAAGAGGTCT	0.463000														133			52		0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115544705	115544705	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:115544705C>T	uc003ibs.2	+	1	1191	c.669C>T	c.(667-669)aaC>aaT	p.N223N	UGT8_uc003ibt.2_Silent_p.N223N|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	223					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AGAAGTACAACCTGCTGCCAG	0.463000														78			44		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327538	57327538	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57327538C>T	uc002qnu.2	-	6	2623	c.2272G>A	c.(2272-2274)Gaa>Aaa	p.E758K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E729K|PEG3_uc002qnv.2_Missense_Mutation_p.E758K|PEG3_uc002qnw.2_Missense_Mutation_p.E634K|PEG3_uc002qnx.2_Missense_Mutation_p.E632K|PEG3_uc010etr.2_Missense_Mutation_p.E758K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	758					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCTGGTTTTCATAGGGGTTA	0.413000														194			75		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82837421	82837421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:82837421G>A	uc003kii.3	+	7	8955	c.8599G>A	c.(8599-8601)Gaa>Aaa	p.E2867K	VCAN_uc003kij.3_Missense_Mutation_p.E1880K|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E1531K	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2867	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTCTTTTAAGGAAATTCATGT	0.458000														108			32		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597445	136597445	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:136597445C>T	uc003qgx.1	-	4	1471	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	BCLAF1_uc003qgy.1_Silent_p.E404E|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.E404E|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	406					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTCTATAATCCTCTGTCTCCT	0.428000														522			32		0	0	1	0	0
LGI4	163175	broad.mit.edu	37	19	35617264	35617264	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35617264G>A	uc002nxx.2	-	7	1803	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	LGI4_uc002nxy.1_Silent_p.I231I|LGI4_uc002nxz.1_Silent_p.I231I	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 4 (LGI4), mRNA.	403						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CGGCCTCGGGGATGTCTGTGC	0.667000														12			5		0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36552954	36552954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:36552954C>T	uc022abu.1	-	21	2152	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E	AOAH_uc003tfh.4_Nonsense_Mutation_p.W544*|AOAH_uc011kba.2_Nonsense_Mutation_p.W512*	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	0					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GCACCTTTTTCCAGAAATGAT	0.498000														61			26		0	0	1	0	0
NEURL	9148	broad.mit.edu	37	10	105349891	105349891	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105349891G>A	uc001kxh.3	+	6	1897	c.1487_splice	c.e6-1	p.G496_splice	SH3PXD2A_uc010qqr.2_Intron|NEURL_uc021pxn.1_Splice_Site_p.G479_splice	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	496					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TTGTCCTCAGGGACAGCCCCC	0.632000														149			40		0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50252887	50252887	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:50252887C>T	uc003cyn.4	+	4	507	c.366C>T	c.(364-366)gtC>gtT	p.V122V	SLC38A3_uc011bdl.2_Intron|SLC38A3_uc011bdm.2_Silent_p.V54V	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	123					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CCTCAGGGGTCGTGGGTGAGC	0.582000														74			26		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101671417	101671417	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:101671417C>T	uc003uys.4	+	2	341	c.214C>T	c.(214-216)Caa>Taa	p.Q72*	CUX1_uc003uyw.3_Nonsense_Mutation_p.Q72*|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Nonsense_Mutation_p.Q72*|CUX1_uc003uyu.3_Nonsense_Mutation_p.Q72*|CUX1_uc011kkn.2_Nonsense_Mutation_p.Q35*|CUX1_uc003uyx.4_Nonsense_Mutation_p.Q61*	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	61					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAAGAGTTTCCAAGGAGAGGT	0.473000														73			7		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128478853	128478853	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128478853G>A	uc003vnz.4	+	7	1616	c.1407G>A	c.(1405-1407)tcG>tcA	p.S469S	FLNC_uc003voa.4_Silent_p.S469S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	469					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCATGTGTCGGAAGGTAAGG	0.637000														60			30		0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33785099	33785099	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:33785099C>T	uc002kzq.4	+	5	1101	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	360					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CTACGTGGCCCTGTCCTCTCT	0.473000														100			11		0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951447	30951447	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:30951447G>A	uc003aig.1	-	3	905	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GAL3ST1_uc003aih.1_Silent_p.F255F|GAL3ST1_uc003aii.1_Silent_p.F255F|GAL3ST1_uc010gvz.1_Silent_p.F255F	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	255					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	p.F255F(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCGACTCGTCGAAGTACTCTT	0.647000														112			30		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15989593	15989593	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15989593C>T	uc002nbs.1	-	12	1601	c.1551G>A	c.(1549-1551)gaG>gaA	p.E517E	CYP4F2_uc010xot.1_Silent_p.E368E	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	517					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGCTCAGGGGCTCCACCCGCA	0.607000														33			15		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879424	3879424	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:3879424G>A	uc002kmf.3	-	3	1172	c.645C>T	c.(643-645)taC>taT	p.Y215Y	DLGAP1_uc010wyz.2_Silent_p.Y215Y|DLGAP1_uc002kmk.2_Silent_p.Y215Y|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	215					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AGGGGGCGTGGTAGATGCACA	0.677000														140			52		0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52830625	52830625	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52830625G>A	uc003dfv.2	+	2	279	c.243G>A	c.(241-243)gtG>gtA	p.V81V	ITIH3_uc011bek.1_Silent_p.V81V	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	81	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCTTTGATGTGGAGCTGCCCA	0.567000														21			8		0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203029380	203029380	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203029380C>T	uc009xaj.3	+	26	2994	c.2994C>T	c.(2992-2994)gcC>gcT	p.A998A	PPFIA4_uc010pqf.2_Silent_p.A580A|PPFIA4_uc001gyz.3_Silent_p.A367A|PPFIA4_uc001gza.3_Silent_p.A367A|PPFIA4_uc001gzb.1_Silent_p.A62A			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	367					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ATGTGGCAGCCTGCCGGGCCA	0.617000														41			14		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69335027	69335027	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:69335027C>T	uc002ars.2	+	9	1570	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.S464F|NOX5_uc002arp.2_Missense_Mutation_p.S492F|NOX5_uc010bid.2_Missense_Mutation_p.S475F|NOX5_uc010bie.2_Missense_Mutation_p.S310F|NOX5_uc002arr.2_Missense_Mutation_p.S482F|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	510	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CACATTCGGTCCCAAGGCCAG	0.557000														73			13		0	0	1	0	0
PRL	5617	broad.mit.edu	37	6	22294766	22294766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:22294766C>T	uc003ndp.3	-	1	595	c.76G>A	c.(76-78)Gtg>Atg	p.V26M	PRL_uc003ndo.3_Missense_Mutation_p.V27M|PRL_uc003ndq.3_Missense_Mutation_p.V26M|PRL_uc003ndr.1_Non-coding_Transcript	NM_000948	NP_001157030	P01236	PRL_HUMAN	Homo sapiens prolactin (PRL), transcript variant 1, mRNA.	26					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					AAGGGGGCCACGCTCTGGCAC	0.592000														26			4		0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4839365	4839365	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4839365G>A	uc002mbj.2	-	7	1321	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	PLIN3_uc002mbk.2_Silent_p.L370L|PLIN3_uc002mbl.3_Silent_p.L381L	NM_005817	NP_005808	O60664	PLIN3_HUMAN	Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.	382					vesicle-mediated transport	Golgi apparatus|endosome membrane|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CTGCTGGACAGGTCCTGGAAG	0.647000														57			13		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713226	70713226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70713226C>T	uc010ttg.2	-	0	1293	c.642G>A	c.(640-642)atG>atA	p.M214I						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		AGGTGGTCTTCATAAAATCAG	0.413000														145			60		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90455056	90455056	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:90455056G>A	uc003pnn.1	-	28	4230	c.4114C>T	c.(4114-4116)Ctc>Ttc	p.L1372F		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1372					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGCATCGCGAGTCTCCGCATG	0.453000														53			34		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062500	9062500	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9062500C>T	uc002mkp.3	-	2	25150	c.24946G>A	c.(24946-24948)Gaa>Aaa	p.E8316K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8318	Ser-rich.|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						GTTCCAGGTTCTCTGCTTATG	0.488000														88			43		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15826454	15826454	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:15826454C>T	uc002ddx.3	-	27	3746	c.3639G>A	c.(3637-3639)gaG>gaA	p.E1213E	MYH11_uc002ddv.3_Silent_p.E1213E|MYH11_uc002ddw.3_Silent_p.E1206E|MYH11_uc002ddy.3_Silent_p.E1206E|MYH11_uc010bvg.3_Silent_p.E1038E	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1206					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTGTGAGCTCCTCCACCGCCT	0.527000			T	CBFB	AML									151			39		0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179533882	179533882	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179533882G>A	uc001gmq.4	-	1	406	c.321C>T	c.(319-321)ctC>ctT	p.L107L	NPHS2_uc009wxi.3_Silent_p.L107L	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	107					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GCAGGGAAATGAGGACAAGAA	0.413000														53			22		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139657446	139657446	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:139657446C>T	uc011kqv.2	+	8	1078	c.843C>T	c.(841-843)tcC>tcT	p.S281S	TBXAS1_uc003vvh.3_Silent_p.S235S|TBXAS1_uc010lne.3_Silent_p.S167S|TBXAS1_uc011kqu.2_Silent_p.S186S|TBXAS1_uc003vvi.3_Silent_p.S235S|TBXAS1_uc011kqw.2_Silent_p.S215S|TBXAS1_uc003vvj.3_Silent_p.S235S	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	234					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CATTTCCATCCATAATGGTCC	0.458000														67			24		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112705447	112705447	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:112705447G>A	uc004bei.2	+	6	1170	c.978G>A	c.(976-978)acG>acA	p.T326T	PALM2-AKAP2_uc004beg.3_Silent_p.T294T|PALM2-AKAP2_uc004beh.4_Silent_p.T326T|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AAGAGGAGACGAAAAAGGTGC	0.502000														82			34		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21214532	21214532	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21214532G>A	uc010bwn.1	-	9	1212	c.1130C>T	c.(1129-1131)tCa>tTa	p.S377L	ZP2_uc002dii.2_Missense_Mutation_p.S338L	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	338	ZP.				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	p.F377S(1)		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)		CAGCTTGAGTGAAGCTAAGTA	0.463000														81			21		0	0	1	0	0
F2RL2	2151	broad.mit.edu	37	5	75914387	75914387	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:75914387C>T	uc003kem.3	-	1	330	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Missense_Mutation_p.E27K	NM_004101	NP_004092	O00254	PAR3_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA.	49					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		GGGAACTCTTCAAAAGAATTT	0.418000														121			48		0	0	1	0	0
C22orf43	51233	broad.mit.edu	37	22	23956368	23956368	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:23956368G>A	uc002zxf.3	-	8	873	c.575C>T	c.(574-576)tCa>tTa	p.S192L		NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN	Homo sapiens chromosome 22 open reading frame 43 (C22orf43), mRNA.	192	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						GTGTCTCAGTGAGCATCTTAA	0.443000														110			17		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33590564	33590564	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:33590564G>A	uc021vft.1	+	30	4728	c.4705G>A	c.(4705-4707)Gat>Aat	p.D1569N	LTBP1_uc002rou.3_Missense_Mutation_p.D1243N|LTBP1_uc002rov.3_Missense_Mutation_p.D1190N|LTBP1_uc010ymz.2_Missense_Mutation_p.D1201N|LTBP1_uc010yna.2_Missense_Mutation_p.D1148N|LTBP1_uc010ynb.2_Missense_Mutation_p.D467N	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1569	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCCCCTGAAGGATTCAGGTGA	0.542000														36			24		0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16168605	16168605	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:16168605C>T	uc004cxj.3	+	1	1244	c.591C>T	c.(589-591)gcC>gcT	p.A197A		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	197					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TTAGCTGTGCCCCATACCCAC	0.488000														43			72		0	0	1	0	0
HCN2	610	broad.mit.edu	37	19	603589	603589	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:603589C>T	uc002lpe.3	+	1	731	c.678C>T	c.(676-678)ctC>ctT	p.L226L		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	226					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGGGAAACCTCATCATCATCC	0.612000														28			13		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396858	154396858	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:154396858C>T	uc010jih.1	+	0	3599	c.3439C>T	c.(3439-3441)Cct>Tct	p.P1147S		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1147	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGGAGGATCCTACCGAGGT	0.542000														62			38		0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108389018	108389018	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:108389018G>A	uc001kyl.3	-	18	2786	c.2604C>T	c.(2602-2604)acC>acT	p.T868T	SORCS1_uc021pxw.1_Silent_p.T868T|SORCS1_uc009xxs.3_Silent_p.T868T|SORCS1_uc001kym.3_Silent_p.T868T|SORCS1_uc001kyn.2_Silent_p.T868T|SORCS1_uc001kyo.3_Silent_p.T868T	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	868	PKD.					integral to membrane	neuropeptide receptor activity|protein binding	p.T868T(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCACCTGCACGGTCACACGGA	0.458000														28			22		0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492959	21492959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:21492959C>T	uc002wsi.3	-	1	781	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	142					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CGCTCCAGCTCGTAGGTCTGC	0.677000														22			8		0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44610887	44610887	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44610887C>T	uc002oyh.2	+	5	891	c.574C>T	c.(574-576)Cgt>Tgt	p.R192C	LOC100379224_uc002oyi.3_Non-coding_Transcript	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	192					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				CTCAGCCCTTCGTATTCATCA	0.413000														248			27		0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6187365	6187365	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6187365C>T	uc002mef.1	+	11	1839	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S	ACSBG2_uc002mee.1_Missense_Mutation_p.P351S|ACSBG2_uc002meg.1_Missense_Mutation_p.P538S|ACSBG2_uc002meh.1_Missense_Mutation_p.P538S|ACSBG2_uc002mei.1_Missense_Mutation_p.P488S|ACSBG2_uc010xiz.1_Missense_Mutation_p.P538S	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	538					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						GAAGAAGATCCCCATCATCAG	0.468000														114			45		0	0	1	0	0
PDLIM4	8572	broad.mit.edu	37	5	131607318	131607318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:131607318C>T	uc003kwo.3	+	4	906	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S	BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Intron|PDLIM4_uc003kwp.3_Intron	NM_003687	NP_003678	P50479	PDLI4_HUMAN	Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA.	0	LIM zinc-binding.						protein binding|zinc ion binding	p.E277K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCCTGGCTTCCCGATTCCCT	0.697000														10			4		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026326	79026326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:79026326G>A	uc003kgc.3	+	1	1810	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	580	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTTGTCTGAGGAAGAAAGAGA	0.423000														310			112		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8528672	8528672	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:8528672C>T	uc003zkk.3	-	14	1203	c.460G>A	c.(460-462)Gat>Aat	p.D154N	PTPRD_uc003zkp.3_Missense_Mutation_p.D154N|PTPRD_uc003zkq.3_Missense_Mutation_p.D154N|PTPRD_uc003zkr.3_Missense_Mutation_p.D154N|PTPRD_uc003zks.3_Missense_Mutation_p.D154N|PTPRD_uc022bdj.1_Missense_Mutation_p.D154N|PTPRD_uc003zkt.1_Missense_Mutation_p.D154N	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	154	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D154Y(5)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTTCTGGATCCGGATTACCA	0.483000										TSP Lung(15;0.13)				139			15		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29416761	29416761	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29416761G>A	uc002rmy.3	-	28	5144	c.4192C>T	c.(4192-4194)Ccg>Tcg	p.P1398S	ALK_uc010ymo.2_Missense_Mutation_p.P330S	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1398					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TATTCTATCGGCAAAGCGGTG	0.468000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					52			5		0	0	1	0	0
PDGFB	5155	broad.mit.edu	37	22	39631795	39631795	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:39631795C>T	uc003axf.3	-	1	1137	c.148G>A	c.(148-150)Gga>Aga	p.G50R	PDGFB_uc003axe.3_Missense_Mutation_p.G35R	NM_002608	NP_002599	P01127	PDGFB_HUMAN	Homo sapiens platelet-derived growth factor beta polypeptide (PDGFB), transcript variant 1, mRNA.	50					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	Golgi membrane|basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	CCGGGGTCTCCGTGCAGCAGG	0.617000			T	COL1A1	DFSP									23			8		0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136320692	136320692	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:136320692C>T	uc004cdv.4	+	24	3979	c.3535C>T	c.(3535-3537)Ctg>Ttg	p.L1179L	ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Intron|ADAMTS13_uc004cdu.1_Intron|ADAMTS13_uc004cdw.4_Intron|ADAMTS13_uc004cdx.4_Intron|ADAMTS13_uc004cdz.4_Silent_p.L849L|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.4_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	1179					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TCGGCGGCTCCTGCCCGGGCC	0.672000														77			23		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140732107	140732107	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140732107G>A	uc003ljo.2	+	0	2280	c.2280G>A	c.(2278-2280)gaG>gaA	p.E760E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljq.2_5'Flank|PCDHGC5_uc011daq.2_Silent_p.E760E|PCDHGC5_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	786					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)			CAAAGACAGAGTTTAATTCTC	0.488000														54			11		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830111	7830111	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7830111C>T	uc010dvt.3	+	2	289	c.171C>T	c.(169-171)tcC>tcT	p.S57S	CLEC4M_uc010xjv.1_Intron|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc002mih.3_Silent_p.S57S|CLEC4M_uc010xjw.2_Intron|CLEC4M_uc010dvs.3_Silent_p.S56S|CLEC4M_uc010xjx.2_Silent_p.S29S|CLEC4M_uc002mhz.3_Silent_p.S57S|CLEC4M_uc002mic.3_Silent_p.S29S|CLEC4M_uc002mia.3_Intron	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	57					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AACTCCTCTCCTTCATGCTCT	0.622000														101			34		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35945118	35945118	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:35945118G>A	uc003olm.3	-	8	1147	c.1036C>T	c.(1036-1038)Cct>Tct	p.P346S	SLC26A8_uc003oll.3_Missense_Mutation_p.P241S|SLC26A8_uc003oln.3_Missense_Mutation_p.P346S	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	346					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						GGTGTTACAGGAAGCAGAAAG	0.423000														85			23		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109677760	109677760	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:109677760C>T	uc001tob.3	+	34	4907	c.4788C>T	c.(4786-4788)ttC>ttT	p.F1596F	ACACB_uc001toc.3_Silent_p.F1596F|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.F262F	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1596					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCCTCAACTTCGTGCCCACTG	0.607000														61			45		0	0	1	0	0
VSTM2L	128434	broad.mit.edu	37	20	36572431	36572431	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36572431C>T	uc002xhk.4	+	3	645	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W		NM_080607	NP_542174	Q96N03	VTM2L_HUMAN	Homo sapiens V-set and transmembrane domain containing 2 like (VSTM2L), mRNA.	131	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				GCGCCTGTCCCGGGTGAAGCC	0.642000														25			3		0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788463	42788463	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42788463G>A	uc002xli.1	-	1	1837	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	322					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCGTGGCGCAGGTTGTCCAGC	0.662000														36			17		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25684939	25684939	+	Missense_Mutation	SNP	C	T	T	rs141199449		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:25684939C>T	uc001isj.3	+	2	1168	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	370						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAACAACTTTCGGAGTAAGTG	0.358000														35			12		0	0	1	0	0
AQP8	343	broad.mit.edu	37	16	25235776	25235776	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:25235776G>A	uc002doc.3	+	3	563	c.481G>A	c.(481-483)Gag>Aag	p.E161K		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	161					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GTTGGTGGCAGAGATCATCCT	0.617000														50			14		0	0	1	0	0
GPR84	53831	broad.mit.edu	37	12	54756536	54756536	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54756536G>T	uc021qyp.1	-	0	1100	c.1100C>A	c.(1099-1101)cCt>cAt	p.P367H	GPR84_uc001sfu.3_Missense_Mutation_p.P367H	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA.	367						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P367H(2)		NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						ATAGAGCACAGGGTTGATGCA	0.542000														209			84		2.5963e-48	2.61334e-48	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38835841	38835841	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38835841C>T	uc021yzh.1	+	47	6806	c.6697C>T	c.(6697-6699)Cat>Tat	p.H2233Y	DNAH8_uc003ooe.2_Missense_Mutation_p.H2016Y	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.R2232H(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATCTCAGGTTCATTATGACTT	0.373000														75			21		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	619829	619829	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:619829C>T	uc003gap.3	+	0	467	c.414C>T	c.(412-414)gtC>gtT	p.V138V	PDE6B_uc003gao.4_Silent_p.V138V	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	138	GAF 1.				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						ACATCGGGGTCGTGGGCCACG	0.647000														9			6		0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285653	44285653	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:44285653G>A	uc010qfe.1	-	0	213	c.183C>T	c.(181-183)ctC>ctT	p.L61L						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		GACAATCTGTGAGTGTGCCCC	0.433000														101			38		0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39895211	39895211	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:39895211G>A	uc003opb.3	-	0	245	c.107C>T	c.(106-108)cCt>cTt	p.P36L	MOCS1_uc003opa.3_Missense_Mutation_p.P36L|MOCS1_uc003opd.3_Intron|MOCS1_uc003ope.3_Intron	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	32	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGACAGACCAGGGAGGAAGCA	0.652000														14			5		0	0	1	0	0
SAV1	60485	broad.mit.edu	37	14	51132005	51132005	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:51132005G>A	uc001wyh.1	-	1	765	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	SAV1_uc021rsy.1_Non-coding_Transcript	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	Homo sapiens salvador homolog 1 (Drosophila) (SAV1), mRNA.	143					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					CGCTTTCTCTGACCATCAAAA	0.403000														67			31		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020566	5020566	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5020566G>A	uc010qyu.2	+	0	354	c.354G>A	c.(352-354)ctG>ctA	p.L118L		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTGTTGCTGGCCATGGCCT	0.498000														145			65		0	0	1	0	0
C15orf53	400359	broad.mit.edu	37	15	38990427	38990427	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:38990427C>T	uc001zkf.1	+	1	231	c.221C>T	c.(220-222)tCc>tTc	p.S74F		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	Homo sapiens chromosome 15 open reading frame 53 (C15orf53), mRNA.	74										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		GAAGATGCTTCCCTTCTCTTC	0.507000														50			20		0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45209064	45209064	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45209064G>A	uc010xxd.2	+	4	1072	c.866G>A	c.(865-867)gGg>gAg	p.G289E		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	289										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GCCCAGGAGGGGACGTACACA	0.587000														82			47		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183104878	183104878	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:183104878C>T	uc002uos.3	-	3	441	c.357G>A	c.(355-357)cgG>cgA	p.R119R	PDE1A_uc010zfp.1_Silent_p.R15R|PDE1A_uc002uoq.1_Silent_p.R119R|PDE1A_uc010zfq.1_Silent_p.R119R|PDE1A_uc002uor.3_Silent_p.R103R|PDE1A_uc002uou.3_Silent_p.R85R	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	119					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R119W(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GCACAATGCTCCGAAATTTTG	0.418000														113			31		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21216784	21216784	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21216784G>A	uc003zor.1	-	0	527	c.521C>T	c.(520-522)tCc>tTc	p.S174F	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	174					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AAAAGAGAAGGATCTCATGAT	0.383000														244			144		0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102851377	102851377	+	Missense_Mutation	SNP	G	A	A	rs34289672		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:102851377G>A	uc002tbs.3	+	10	1444	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	IL1RL2_uc002tbt.3_Missense_Mutation_p.E322K	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	440	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TGTCATCGATGAAAACGTTAA	0.463000														68			29		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178562966	178562966	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178562966C>T	uc003mjw.3	-	12	2131	c.2029G>A	c.(2029-2031)Ggg>Agg	p.G677R		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	677	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGCGCGTCCCGTCATGCACC	0.642000														64			34		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294042	25294042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:25294042C>T	uc003abg.2	+	19	2448	c.2291C>T	c.(2290-2292)tCc>tTc	p.S764F	SGSM1_uc010guu.1_Missense_Mutation_p.S709F|SGSM1_uc003abh.2_Missense_Mutation_p.S703F|SGSM1_uc003abj.2_Missense_Mutation_p.S648F|SGSM1_uc003abi.1_Missense_Mutation_p.S684F	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	764	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGCACTTGTTCCCCAGACTCG	0.562000														50			6		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11022970	11022970	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:11022970C>T	uc003jfa.1	-	16	3055	c.2910G>A	c.(2908-2910)gtG>gtA	p.V970V	CTNND2_uc010itt.2_Silent_p.V879V|CTNND2_uc011cmy.1_Silent_p.V633V|CTNND2_uc011cmz.1_Silent_p.V537V|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.V562V	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	970					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTTGGTAATCACTTCGTGCA	0.517000														60			31		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573155	38573155	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38573155C>T	uc002ohk.3	+	2	1459	c.950C>T	c.(949-951)tCc>tTc	p.S317F		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	317					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCTGGGCGTTCCCCGGGGGAG	0.687000														20			4		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263239	34263239	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:34263239C>T	uc002nus.4	+	4	1051	c.546C>T	c.(544-546)tcC>tcT	p.S182S	CHST8_uc002nut.4_Silent_p.S182S|CHST8_uc002nuu.3_Silent_p.S182S	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	182					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCCACGTGTCCCGTATCTTCG	0.706000														47			6		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42149979	42149979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:42149979C>T	uc003baz.1	+	16	1905	c.1880C>T	c.(1879-1881)tCc>tTc	p.S627F	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_5'UTR|MEI1_uc003bbc.1_5'UTR|MEI1_uc010gym.1_5'UTR	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	627							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGTGTGTTCCAATTTCCTC	0.448000														61			41		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601331	75601331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:75601331C>T	uc001sxg.1	-	1	977	c.433G>A	c.(433-435)Gag>Aag	p.E145K	KCNC2_uc009zry.3_Missense_Mutation_p.E145K|KCNC2_uc001sxe.3_Missense_Mutation_p.E145K|KCNC2_uc001sxf.3_Missense_Mutation_p.E145K|KCNC2_uc010stw.1_Missense_Mutation_p.E145K	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	145					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						ACGTCGGTCTCGTCGATGCCC	0.667000														38			16		0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46106066	46106066	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:46106066G>A	uc001coq.3	-	7	1921	c.560C>T	c.(559-561)cCt>cTt	p.P187L		NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	Homo sapiens GC-rich promoter binding protein 1-like 1 (GPBP1L1), mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P186P(1)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					CTTGGCACTAGGCGGGTTTTC	0.443000														144			59		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231972	7231972	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:7231972C>T	uc010wzk.2	+	0	836	c.836C>T	c.(835-837)cCt>cTt	p.P279L		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	279										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TTATCCAAGCCTCTGCCGGAG	0.597000														196			73		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110830538	110830538	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:110830538G>A	uc001vqw.4	-	31	2621	c.2499C>T	c.(2497-2499)ttC>ttT	p.F833F		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	833	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAGTCCAGGGAATCCGGGGA	0.522000														93			28		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75597272	75597272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:75597272C>T	uc003kei.1	+	11	2036	c.1902C>T	c.(1900-1902)tcC>tcT	p.S634S		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	634					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCAGTGAATCCATGATGATAG	0.507000														184			40		0	0	1	0	0
AARSD1	80755	broad.mit.edu	37	17	41108281	41108281	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:41108281G>A	uc010whg.2	-	10	1471	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	AARSD1_uc002icd.3_Silent_p.I314I|AARSD1_uc010cyu.1_Silent_p.I201I	NM_001136042	NP_079543	Q9BTE6	AASD1_HUMAN	Homo sapiens alanyl-tRNA synthetase domain containing 1 (AARSD1), transcript variant 1, mRNA.	201					alanyl-tRNA aminoacylation	cytoplasm	ATP binding|alanine-tRNA ligase activity|metal ion binding|nucleic acid binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CAACGCCCTCGATGTTAACAA	0.547000														91			14		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43372307	43372307	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43372307G>A	uc002ovd.1	-	4	1327	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron|PSG3_uc002ovc.3_Missense_Mutation_p.R304C|PSG3_uc002ova.2_Missense_Mutation_p.R304C|PSG3_uc002ouz.2_Missense_Mutation_p.R397C|PSG3_uc002ovb.3_Missense_Mutation_p.R397C	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	397	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region		p.R397C(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCTGAGTTACGAACAGAGCAA	0.448000														293			139		0	0	1	0	0
CUL4A	8451	broad.mit.edu	37	13	113909298	113909298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:113909298C>T	uc021rmv.1	+	17	1901	c.1890C>T	c.(1888-1890)tcC>tcT	p.S630S	CUL4A_uc021rmu.1_Silent_p.S530S|CUL4A_uc010agu.3_Silent_p.S491S|CUL4A_uc010tjz.2_Silent_p.S309S	NM_001008895	NP_003580	Q13619	CUL4A_HUMAN	Homo sapiens cullin 4A (CUL4A), transcript variant 1, mRNA.	630					DNA repair|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CGCTGCAGTCCCTGGCCTGTG	0.458000														34			13		0	0	1	0	0
MBL2	4153	broad.mit.edu	37	10	54530490	54530490	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:54530490G>A	uc001jjt.3	-	1	309	c.244C>T	c.(244-246)Cca>Tca	p.P82S		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	82	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GAAGGCCCTGGATTTCCTGGA	0.547000														132			28		0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47286726	47286726	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:47286726C>T	uc001vbk.3	+	14	1884	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*	LRCH1_uc001vbj.3_Nonsense_Mutation_p.R550*|LRCH1_uc001vbl.4_Nonsense_Mutation_p.R550*	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	550										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CCTGAAGCCTCGATCAGGTAA	0.423000														130			63		0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19295170	19295170	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:19295170C>T	uc003cbk.1	+	1	296	c.101C>T	c.(100-102)gCc>gTc	p.A34V	KCNH8_uc011awe.1_Missense_Mutation_p.A34V|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	34	PAS.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTTGCCAATGCCCAGGTGGCT	0.428000														157			69		0	0	1	0	0
LRRC28	123355	broad.mit.edu	37	15	99828126	99828126	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:99828126G>A	uc002bva.1	+	4	510	c.355G>A	c.(355-357)Gct>Act	p.A119T	LRRC28_uc010urs.1_Non-coding_Transcript|LRRC28_uc002bvb.1_5'UTR|LRRC28_uc010urt.1_5'UTR|LRRC28_uc002bvc.1_Missense_Mutation_p.A119T|LRRC28_uc010uru.1_Missense_Mutation_p.A119T|LRRC28_uc002bvd.1_Intron	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	Homo sapiens leucine rich repeat containing 28 (LRRC28), mRNA.	119										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TCTTCGATTAGCTAATAACCA	0.368000														160			26		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57754021	57754021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:57754021G>A	uc010bfw.3	+	8	2527	c.2334G>A	c.(2332-2334)atG>atA	p.M778I	CGNL1_uc002aeg.3_Missense_Mutation_p.M778I	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	778						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATCAGGAGATGGACAAGCTGA	0.537000														69			26		0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111319010	111319010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:111319010C>T	uc001trv.1	+	6	958	c.763C>T	c.(763-765)Ctc>Ttc	p.L255F	CCDC63_uc009zvt.1_Missense_Mutation_p.S109F|CCDC63_uc010sye.1_Missense_Mutation_p.L215F|CCDC63_uc001trw.1_Missense_Mutation_p.L170F	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	255										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GCTGGAGCGTCTCTATGCCCA	0.552000														30			11		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82416145	82416146	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:82416145_82416146CC>TT	uc001dit.4	+	6	1652_1653	c.1471_1472CC>TT	c.(1471-1473)cca>TTa	p.P491L	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.P491L|LPHN2_uc001div.3_Missense_Mutation_p.P491L|LPHN2_uc009wcd.3_Missense_Mutation_p.P491L|LPHN2_uc001diw.3_Missense_Mutation_p.P62L	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	491					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGTTGAACGACCATGCCCTAAG	0.376000														68			22		0	0	1	0	0
UBL7	84993	broad.mit.edu	37	15	74740913	74740913	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74740913G>A	uc002axw.1	-	9	1073	c.911C>T	c.(910-912)tCc>tTc	p.S304F	UBL7_uc002axx.1_Missense_Mutation_p.S344F|UBL7_uc002axy.1_Missense_Mutation_p.S304F|UBL7_uc002axz.1_Missense_Mutation_p.S304F	NM_032907	NP_957717	Q96S82	UBL7_HUMAN	Homo sapiens ubiquitin-like 7 (bone marrow stromal cell-derived) (UBL7), transcript variant 1, mRNA.	304							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GACACCAGAGGACATTGGTGA	0.552000														293			79		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50741774	50741774	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:50741774G>A	uc002egm.1	+	2	654	c.549G>A	c.(547-549)agG>agA	p.R183R	NOD2_uc021tia.1_5'UTR|NOD2_uc010cbk.1_Silent_p.R156R|NOD2_uc002egl.1_Intron|NOD2_uc010cbl.1_5'Flank|NOD2_uc010cbm.1_5'Flank|NOD2_uc010cbn.1_5'Flank|NOD2_uc010cbo.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	183	CARD 2.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGGCAAGAAGGCTGCTTGATC	0.478000														84			37		0	0	1	0	0
GFRA2	2675	broad.mit.edu	37	8	21563492	21563492	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:21563492G>A	uc003wzu.1	-	4	1531	c.856C>T	c.(856-858)Cct>Tct	p.P286S	GFRA2_uc003wzv.1_Missense_Mutation_p.P181S|GFRA2_uc003wzw.1_Missense_Mutation_p.P153S	NM_001495	NP_001486	O00451	GFRA2_HUMAN	Homo sapiens GDNF family receptor alpha 2 (GFRA2), transcript variant 1, mRNA.	286						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TTGTCCGCAGGGCAGCTGGTG	0.587000														7			4		0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85448657	85448657	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:85448657G>A	uc010rth.2	-	3	821	c.432C>T	c.(430-432)tcC>tcT	p.S144S	SYTL2_uc010rtg.2_Silent_p.S144S|SYTL2_uc010rti.2_Silent_p.S144S|SYTL2_uc010rtj.2_Silent_p.S96S|SYTL2_uc001pbf.4_Silent_p.S144S|SYTL2_uc010rtf.2_Silent_p.S2S	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	144					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGTTTTCCTGGGACATATCAA	0.373000														49			10		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750162	140750162	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140750162G>A	uc003ljw.2	+	0	201	c.201G>A	c.(199-201)cgG>cgA	p.R67R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc011dat.2_Silent_p.R67R	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	65	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L66S(1)		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)			GGAACCTGCGGGTTATTGCAG	0.542000														195			18		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159660564	159660564	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:159660564C>T	uc010kjv.3	+	13	4396	c.4196C>T	c.(4195-4197)cCc>cTc	p.P1399L	FNDC1_uc010kjw.1_Missense_Mutation_p.P1284L	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1399						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAAGGGACCCCCGTGGTGAGT	0.483000														6			4		0	0	1	0	0
MRPS10	55173	broad.mit.edu	37	6	42179636	42179636	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:42179636G>A	uc003osa.4	-	3	252	c.206C>T	c.(205-207)cCa>cTa	p.P69L	MRPS10_uc011dup.2_Missense_Mutation_p.P28L	NM_018141	NP_060611	P82664	RT10_HUMAN	Homo sapiens mitochondrial ribosomal protein S10 (MRPS10), nuclear gene encoding mitochondrial protein, mRNA.	69					translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			TAATATGTCTGGTTCATCAGA	0.343000														87			6		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1488505	1488505	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1488505C>T	uc002qwr.3	+	8	1562	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.F492F|TPO_uc002qwx.3_Silent_p.F492F|TPO_uc002qwu.3_Silent_p.F492F|TPO_uc010yio.2_Silent_p.F319F|TPO_uc010yip.2_Silent_p.F492F|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	492					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCTTCCGCTTCGGCCATGCCA	0.652000														51			12		0	0	1	0	0
PTGES	9536	broad.mit.edu	37	9	132510954	132510954	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:132510954G>A	uc004byi.3	-	1	242	c.189C>T	c.(187-189)ccC>ccT	p.P63P	PTGES_uc010myy.3_Non-coding_Transcript	NM_004878	NP_004869	O14684	PTGES_HUMAN	Homo sapiens prostaglandin E synthase (PTGES), mRNA.	63					prostaglandin biosynthetic process|signal transduction	integral to membrane|membrane fraction	glutathione binding|prostaglandin-E synthase activity			lung(1)|skin(1)	2		Ovarian(14;0.00556)				GTTCCACGTCGGGGTCGCTCC	0.602000														20			5		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21033937	21033937	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21033937G>A	uc010sil.2	+	9	1545	c.1480G>A	c.(1480-1482)Ggt>Agt	p.G494S	SLCO1B3_uc001rek.3_Missense_Mutation_p.G494S|SLCO1B3_uc001rel.3_Missense_Mutation_p.G494S|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	494	Kazal-like.				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)					ATCCTCAAGTGGTATTAAAAA	0.358000														119			47		0	0	1	0	0
FKBP9L	360132	broad.mit.edu	37	7	55759114	55759114	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55759114G>A	uc010kzl.3	-	2	268	c.168C>T	c.(166-168)atC>atT	p.I56I	FKBP9L_uc003tqt.3_5'Flank|FKBP9L_uc011kcs.2_5'Flank					Homo sapiens FK506 binding protein 9-like (FKBP9L), transcript variant 4, non-coding RNA.											endometrium(1)|kidney(1)|lung(3)	5						AGTGGGAGGTGATGCTGATGG	0.522000														107			18		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111772339	111772339	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:111772339G>A	uc001tsa.2	+	18	3175	c.3021G>A	c.(3019-3021)gaG>gaA	p.E1007E		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1007						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E1007D(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGTCCCTGGAGAGCAGCAAGG	0.652000														41			16		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18062264	18062264	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:18062264G>A	uc021trm.1	+	51	9328	c.9109G>A	c.(9109-9111)Gag>Aag	p.E3037K	MYO15A_uc021trl.1_Missense_Mutation_p.E3035K|MYO15A_uc010vxi.2_Missense_Mutation_p.E301K|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_Missense_Mutation_p.E26K|MYO15A_uc002gsl.3_5'UTR|MYO15A_uc010vxm.2_5'Flank|MYO15A_uc002gsm.1_5'Flank|MYO15A_uc010cpv.3_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	3037	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAAATCCAAGGAGCCTCGGGA	0.562000														35			13		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48733332	48733332	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48733332G>A	uc002isl.3	+	1	265	c.185G>A	c.(184-186)gGc>gAc	p.G62D	ABCC3_uc002isk.4_Missense_Mutation_p.G62D	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	62					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CATTGTCGTGGCTACATCATC	0.582000														48			15		0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68021426	68021426	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:68021426G>A	uc010cey.3	-	9	1608	c.1444C>T	c.(1444-1446)Ctt>Ttt	p.L482F	DPEP2_uc002eve.3_Missense_Mutation_p.L482F|DPEP2_uc002evf.3_Non-coding_Transcript	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	482					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CACAGAATAAGGACTGGGAAG	0.542000														174			20		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761935	92761935	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92761935G>A	uc003umh.1	-	4	4566	c.3350C>T	c.(3349-3351)tCc>tTc	p.S1117F	SAMD9L_uc003umj.1_Missense_Mutation_p.S1117F|SAMD9L_uc003umi.1_Missense_Mutation_p.S1117F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1117F|SAMD9L_uc003umk.1_Missense_Mutation_p.S1117F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1117F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1117F|SAMD9L_uc022ahh.1_Missense_Mutation_p.S1117F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1117										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAAATATAGGAATTTTTAGG	0.383000														131			38		0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38078497	38078497	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:38078497C>T	uc001cbl.2	-	7	1614	c.722G>A	c.(721-723)aGa>aAa	p.R241K	RSPO1_uc009vvf.2_Missense_Mutation_p.R214K|RSPO1_uc001cbm.2_Missense_Mutation_p.R241K|RSPO1_uc009vvg.2_Missense_Mutation_p.R178K	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	241					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCCTTGCGTCTTCGAGAGCC	0.652000														109			38		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107062173	107062173	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:107062173C>T	uc021ser.1	-	150		c.6813G>A								Parts of antibodies, mostly variable regions.																		TCACAGAGCTCAGCTTCAGGT	0.547000														163			49		0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75112979	75112979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:75112979C>T	uc002ayt.1	+	7	780	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S	LMAN1L_uc010bke.1_Missense_Mutation_p.P248S	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	260						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCCTAGGTTCCCCCTCAGCC	0.642000														183			40		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958874	54958874	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:54958874C>T	uc003dhl.3	-	1	510	c.376G>A	c.(376-378)Gag>Aag	p.E126K	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	126						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AAATCAAGCTCCCTCAGCTGA	0.463000														57			20		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40030593	40030593	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:40030593C>T	uc003ayc.3	+	4	604	c.604C>T	c.(604-606)Ctc>Ttc	p.L202F	CACNA1I_uc003ayd.3_Missense_Mutation_p.L202F|CACNA1I_uc003aye.3_Missense_Mutation_p.L117F|CACNA1I_uc003ayf.3_Missense_Mutation_p.L117F	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	202					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGTGAACCTGCTCCTGGACAC	0.567000														209			61		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121000554	121000554	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121000554G>A	uc010rzo.2	+	8	2575	c.2575G>A	c.(2575-2577)Gag>Aag	p.E859K		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	859	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGCCAGTGACGAGTTCTGTCT	0.537000														111			41		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13363829	13363829	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:13363829G>A	uc003bxv.1	-	34	4862	c.4779C>T	c.(4777-4779)acC>acT	p.T1593T		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1593					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCTGGGTGGGGGTGCACTCGC	0.622000														74			31		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119434453	119434453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:119434453C>T	uc003ede.4	+	5	622	c.545C>T	c.(544-546)tCc>tTc	p.S182F	C3orf15_uc003edc.2_Missense_Mutation_p.S182F|C3orf15_uc010hqy.2_Missense_Mutation_p.S182F|C3orf15_uc010hqz.3_Missense_Mutation_p.S120F|C3orf15_uc011bjd.2_Missense_Mutation_p.S56F|C3orf15_uc011bje.2_Missense_Mutation_p.S162F|C3orf15_uc010hra.2_5'UTR	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	182						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		AAGCACCTATCCATCCCTTCA	0.388000														227			83		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72350309	72350309	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72350309G>A	uc002jkm.4	+	17	2455	c.2317G>A	c.(2317-2319)Gag>Aag	p.E773K		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	773					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGAGAGGAAGGAGATCCTGAC	0.657000														94			34		0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	457111	457111	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:457111C>T	uc003jba.3	+	4	1282	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	396					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACGTACATGTCCACGCTCACT	0.587000														25			5		0	0	1	0	0
LOC283693	283693	broad.mit.edu	37	15	83395485	83395485	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83395485G>A	uc002bjb.3	-	2	817	c.348C>T	c.(346-348)tcC>tcT	p.S116S						Homo sapiens actin, gamma pseudogene (LOC283693), non-coding RNA.																		TCTCCAGGAAGGAAGAGGACA	0.572000														10			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179654826	179654826	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179654826C>T	uc021vsy.1	-	11	2042	c.1817G>A	c.(1816-1818)aGg>aAg	p.R606K	TTN_uc021vsz.1_Missense_Mutation_p.R560K|TTN_uc021vta.1_Missense_Mutation_p.R560K|TTN_uc021vtb.1_Missense_Mutation_p.R560K|TTN_uc002unb.2_Missense_Mutation_p.R606K|TTN_uc010frg.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	606							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)			AACTGTTTTCCTAGTTTCCTT	0.313000														49			19		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32913745	32913746	+	Missense_Mutation	DNP	CC	TT	TT	rs80358749		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:32913745_32913746CC>TT	uc001uub.1	+	10	5480_5481	c.5253_5254CC>TT	c.(5251-5256)taccat>taTTat	p.H1752Y		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1752					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GCTATTCCTACCATTCTGATGA	0.307000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				53			25		0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227400879	227400880	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:227400879_227400880GG>AA	uc001hqr.3	-	2	1254_1255	c.311_312CC>TT	c.(310-312)gcc>gTT	p.A104V	CDC42BPA_uc001hqs.3_Missense_Mutation_p.A104V|CDC42BPA_uc009xes.3_Missense_Mutation_p.A104V|CDC42BPA_uc010pvs.2_Missense_Mutation_p.A104V	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	104	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ATATTTTCATGGCAAACACTTT	0.248000														108			15		0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	169780949	169780949	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:169780949C>T	uc003map.3	+	0	69	c.69C>T	c.(67-69)atC>atT	p.I23I		NM_001034838	NP_001030010	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 3, mRNA.	0					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.I22I(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTAAGCTCATCACTGGGACCC	0.557000														39			19		0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285233	44285233	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:44285233G>A	uc010qfe.1	-	0	633	c.603C>T	c.(601-603)gcC>gcT	p.A201A						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		GTTTAGCAAGGGCCTTTTTCA	0.438000														56			11		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127613669	127613669	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:127613669G>A	uc003kuu.3	-	57	7813	c.7374C>T	c.(7372-7374)aaC>aaT	p.N2458N		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2458	EGF-like 41; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGGTGCAGAGGTTTGGCATTA	0.413000														64			21		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10538689	10538689	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10538689C>T	uc002gmq.2	-	29	4255	c.4167G>A	c.(4165-4167)gaG>gaA	p.E1389E		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1389					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CGCACTTGGCCTCCTCCAGCT	0.488000														74			59		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122769437	122769437	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:122769437C>T	uc003vkm.3	-	9	1056	c.1031_splice	c.e9+1	p.R344_splice	SLC13A1_uc010lks.3_Splice_Site_p.R220_splice	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	344						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	tttgtCTTACCTTATTGGCCC	0.413000														61			13		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306738	41306738	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:41306738G>A	uc002xkg.3	-	6	1105	c.921C>T	c.(919-921)atC>atT	p.I307I	PTPRT_uc010ggj.3_Silent_p.I307I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	307	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CATTTGGCTTGATCCACAGGT	0.552000														36			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569663	179569663	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179569663C>T	uc021vsy.1	-	100	26128	c.25903G>A	c.(25903-25905)Gac>Aac	p.D8635N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D5296N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9562	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R8634H(1)|p.R8634C(1)		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)			TCCTTTTCGTCCCTCTCTGAC	0.323000														139			44		0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88284477	88284477	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:88284477G>A	uc011lte.2	-	6	808	c.741C>T	c.(739-741)tcC>tcT	p.S247S	AGTPBP1_uc011ltc.2_Silent_p.S93S|AGTPBP1_uc011ltd.2_Silent_p.S195S|AGTPBP1_uc010mqc.3_Silent_p.S195S	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	195					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTTTCCCTAAGGATACTGAAT	0.328000														85			9		0	0	1	0	0
TMEM190	147744	broad.mit.edu	37	19	55889357	55889357	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55889357G>A	uc002qkt.1	+	4	338	c.320G>A	c.(319-321)cGg>cAg	p.R107Q		NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	Homo sapiens transmembrane protein 190 (TMEM190), mRNA.	107						integral to membrane				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GCCAAGCGCCGGGACGTGCTG	0.711000														35			13		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060279	54060279	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:54060279G>A	uc001cvr.1	-	2	864	c.297C>T	c.(295-297)acC>acT	p.T99T		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	99					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CATTTACACAGGTGACCAGAG	0.677000														41			23		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699326	17699326	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:17699326G>A	uc002rcl.1	-	0	381	c.357C>T	c.(355-357)ccC>ccT	p.P119P	RAD51AP2_uc010exn.1_Silent_p.P110P	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	119										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GACTTTGTGAGGGGGGAGACT	0.478000														66			16		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933018	43933018	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43933018C>T	uc002xnn.2	-	2	680	c.493G>A	c.(493-495)Ggc>Agc	p.G165S	MATN4_uc002xnp.2_Missense_Mutation_p.G165S|MATN4_uc002xno.2_Missense_Mutation_p.G165S|MATN4_uc010zwr.1_Missense_Mutation_p.G113S|MATN4_uc002xnr.1_Missense_Mutation_p.G165S|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	165	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ATTTCAATGCCGCGGGCGCGC	0.721000														22			5		0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67406248	67406248	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:67406248G>A	uc002lkl.3	+	5	844	c.647G>A	c.(646-648)gGa>gAa	p.G216E		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	216	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				ACAAGGGAAGGAGAAATGATC	0.443000														123			45		0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85577343	85577343	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:85577343G>A	uc002spd.3	-	3	810	c.619C>T	c.(619-621)Cat>Tat	p.H207Y	RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Missense_Mutation_p.H146Y	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	207					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	AGGATGGCATGAGGGGCTCCA	0.562000														59			14		0	0	1	0	0
SEMA4B	10509	broad.mit.edu	37	15	90768248	90768248	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90768248C>T	uc002boy.3	+	10	1526	c.1243C>T	c.(1243-1245)Ctc>Ttc	p.L415F	SEMA4B_uc002boz.3_Missense_Mutation_p.L415F|SEMA4B_uc010uqd.2_Missense_Mutation_p.L253F|SEMA4B_uc002bpa.3_Missense_Mutation_p.L253F	NM_020210	NP_945119			Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B (SEMA4B), transcript variant 1, mRNA.											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			ATCCCTGCAGCTCCCAGACCG	0.627000														96			27		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126784913	126784913	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:126784913C>T	uc003kuh.4	+	23	3342	c.2980_splice	c.e23+1	p.G994_splice	MEGF10_uc003kui.4_Splice_Site_p.G994_splice	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	994	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TCAACGAGCTCGGTGAGTTCT	0.532000														68			34		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101350846	101350846	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:101350846C>T	uc010txj.1	-	0	339	c.280G>A	c.(280-282)Gac>Aac	p.D94N	MIR432_uc021sce.1_Non-coding_Transcript|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	94										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGGAGTAGGTCATTGGGTGGA	0.532000														56			40		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98555693	98555693	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:98555693C>T	uc003upp.3	+	42	6509	c.6300C>T	c.(6298-6300)ttC>ttT	p.F2100F	TRRAP_uc011kis.2_Silent_p.F2082F|TRRAP_uc003upr.3_Silent_p.F1799F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2100	Interaction with TP53.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTGAACTTCCTTATCCGCG	0.567000														33			12		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236925888	236925888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:236925888C>T	uc001hyf.2	+	20	2858	c.2654C>T	c.(2653-2655)tCt>tTt	p.S885F	ACTN2_uc001hyg.2_Missense_Mutation_p.S677F|ACTN2_uc009xgi.1_Missense_Mutation_p.S885F|ACTN2_uc010pxu.1_Missense_Mutation_p.S574F	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	885					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCTGCGTTCTCTTCCGCACTC	0.567000														39			11		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189068247	189068247	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:189068247C>T	uc003izm.1	+	5	1243	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	TRIML1_uc003izn.1_Silent_p.F100F	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	376	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGGACCTGTTCTCACTAATAG	0.527000														111			21		0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642053	127642053	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:127642053C>T	uc010hsr.3	+	0	152	c.149C>T	c.(148-150)gCt>gTt	p.A50V	KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_5'Flank|KBTBD12_uc003ejz.2_Missense_Mutation_p.A50V	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	50	BTB.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTGGTCCTGGCTGCATTTAGC	0.393000														47			21		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159654305	159654305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:159654305C>T	uc010kjv.3	+	10	2961	c.2761C>T	c.(2761-2763)Cgg>Tgg	p.R921W	FNDC1_uc010kjw.1_Missense_Mutation_p.R806W	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	921						extracellular region		p.R921Q(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAGCCTGCATCGGAAGGAACC	0.602000														28			8		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161021355	161021355	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161021355C>T	uc001fxl.3	-	9	1515	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	ARHGAP30_uc001fxk.3_Missense_Mutation_p.R390Q|ARHGAP30_uc001fxm.3_Missense_Mutation_p.R236Q|ARHGAP30_uc009wtx.3_Missense_Mutation_p.R63Q|ARHGAP30_uc001fxn.1_Missense_Mutation_p.R236Q	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	390					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCGCCCAGCTCGTGGTGTGCC	0.602000														77			38		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32752402	32752402	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:32752402G>A	uc001utx.3	+	20	3006	c.2510G>A	c.(2509-2511)aGc>aAc	p.S837N	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	837					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GATGTGAAAAGCCCTTCCCAT	0.512000														131			13		0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233410387	233410387	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233410387C>A	uc002vsx.1	+	11	1536	c.1515C>A	c.(1513-1515)ttC>ttA	p.F505L	CHRNG_uc010fye.1_Missense_Mutation_p.F453L	NM_005199	NP_005190	P07510	ACHG_HUMAN	Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.	505					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCCTGCCATTCCCTGGAGATC	0.607000														80			8		0.00829132	0.00829512	1	1	0
ZFPM2	23414	broad.mit.edu	37	8	106815429	106815429	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:106815429G>A	uc003ymd.3	+	7	3142	c.3119G>A	c.(3118-3120)gGa>gAa	p.G1040E	ZFPM2_uc011lhs.2_Missense_Mutation_p.G771E	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	1040					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R1039R(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAAAATCGAGGAATGGTAATA	0.473000														47			7		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46851304	46851304	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46851304C>T	uc003oyo.3	-	5	893	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	GPR116_uc003oyp.3_Missense_Mutation_p.E202K|GPR116_uc003oyq.3_Missense_Mutation_p.E202K|GPR116_uc003oyr.2_Missense_Mutation_p.E202K	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	202	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ACCGCTGTTTCCAAGTCGGTC	0.448000														29			12		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2430192	2430192	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:2430192C>T	uc001aji.1	+	17	2630	c.2356C>T	c.(2356-2358)Ccc>Tcc	p.P786S	PLCH2_uc010nyz.2_Missense_Mutation_p.P575S|PLCH2_uc009vle.1_Missense_Mutation_p.P539S|PLCH2_uc001ajj.1_Missense_Mutation_p.P575S|PLCH2_uc001ajk.1_Missense_Mutation_p.P575S|PLCH2_uc001ajl.1_5'UTR	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	787	C2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			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)		GATCATCGACCCCTTTGTGGA	0.687000														15			6		0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079984	31079984	+	Missense_Mutation	SNP	G	A	A	rs139732921		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31079984G>A	uc003nsk.1	-	1	152	c.152C>T	c.(151-153)tCc>tTc	p.S51F	PSORS1C1_uc003nsl.2_5'Flank|PSORS1C1_uc010jsj.2_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	51										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GCCAGTGGAGGAAGGTTGTCC	0.567000														98			37		0	0	1	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6939829	6939829	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:6939829G>A	uc004frb.3	+	11	1499	c.852G>A	c.(850-852)tgG>tgA	p.W284*	TBL1Y_uc004frc.3_Nonsense_Mutation_p.W284*|TBL1Y_uc004frd.3_Nonsense_Mutation_p.W284*|TBL1Y_uc011nap.2_Nonsense_Mutation_p.W126*	NM_033284	NP_599021	Q9BQ87	TBL1Y_HUMAN	Homo sapiens transducin (beta)-like 1, Y-linked (TBL1Y), transcript variant 1, mRNA.	284					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						CTCTGAAATGGAACAAAAAGG	0.383000														14			6		0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179563498	179563498	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:179563498G>A	uc003mlq.3	-	2	615	c.318C>T	c.(316-318)ttC>ttT	p.F106F	RASGEF1C_uc003mlr.3_Silent_p.F106F|RASGEF1C_uc003mlp.4_5'UTR	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	106	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTTGGGGCCGAACTTCCGGA	0.682000														5			4		0	0	1	0	0
GATM	2628	broad.mit.edu	37	15	45656180	45656180	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45656180G>A	uc001zvc.3	-	7	1406	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S	GATM_uc001zvb.3_Silent_p.S230S|GATM_uc010uev.1_Silent_p.S412S	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	359					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	AGACATTCATGGAAAGCCATT	0.358000														68			33		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77257578	77257578	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77257578C>T	uc004aji.3	+	3	566	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	RORB_uc004ajh.3_Nonsense_Mutation_p.Q162*	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	173	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.Q162*(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CGATTCCGGTCAGCCGTCCCC	0.507000														32			18		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21178778	21178778	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:21178778G>A	uc001iqi.3	-	2	651	c.254C>T	c.(253-255)tCt>tTt	p.S85F	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	85					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCTTACCTCAGAAATAAAAGC	0.308000														58			25		0	0	1	0	0
VRK3	51231	broad.mit.edu	37	19	50504104	50504104	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50504104G>A	uc002prg.2	-	5	653	c.555C>T	c.(553-555)ccC>ccT	p.P185P	VRK3_uc002prh.1_Silent_p.P185P|VRK3_uc002pri.1_Silent_p.P135P|VRK3_uc010ens.2_Silent_p.P185P|VRK3_uc010ybl.1_Silent_p.P135P|VRK3_uc010ybm.1_Missense_Mutation_p.P5L|VRK3_uc002prk.2_Silent_p.P185P|VRK3_uc010ent.2_5'UTR|VRK3_uc002prl.3_Silent_p.P185P|VRK3_uc010ybn.1_Silent_p.P185P	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	Homo sapiens vaccinia related kinase 3 (VRK3), transcript variant 1, mRNA.	185	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGGTGGAGGTGGGTGCAGCTG	0.572000														26			6		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71730343	71730343	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71730343G>A	uc010fen.3	+	4	381	c.240_splice	c.e4-1	p.R80_splice	DYSF_uc010fei.3_Splice_Site_p.R79_splice|DYSF_uc010feh.3_Splice_Site_p.R79_splice|DYSF_uc002sig.4_Splice_Site_p.R79_splice|DYSF_uc010yqx.2_Splice_Site|DYSF_uc010feg.3_Splice_Site_p.R79_splice|DYSF_uc010fee.3_Splice_Site_p.R79_splice|DYSF_uc010fef.3_Splice_Site_p.R79_splice|DYSF_uc002sie.3_Splice_Site_p.R79_splice|DYSF_uc010feo.3_Splice_Site_p.R80_splice|DYSF_uc010fej.3_Splice_Site_p.R80_splice|DYSF_uc010fel.3_Splice_Site_p.R80_splice|DYSF_uc010fem.3_Splice_Site_p.R80_splice|DYSF_uc002sif.3_Splice_Site_p.R80_splice|DYSF_uc010fek.3_Splice_Site_p.R80_splice	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	79	C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCTCCTCTCAGGTTCCTGGGG	0.597000														168			63		0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155931555	155931555	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155931555G>A	uc001fmu.2	-	14	1752	c.1497C>T	c.(1495-1497)acC>acT	p.T499T	ARHGEF2_uc001fmr.2_Silent_p.T427T|ARHGEF2_uc001fms.2_Silent_p.T454T|ARHGEF2_uc001fmt.2_Silent_p.T455T|ARHGEF2_uc010pgt.1_Silent_p.T428T|ARHGEF2_uc010pgu.1_Silent_p.T500T	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	455	PH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGGCACTGGGGTTTGGGCCC	0.602000														60			21		0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108541781	108541781	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108541781G>A	uc003dxi.1	+	1	151	c.7_splice	c.e1+1	p.G3_splice	TRAT1_uc010hpx.1_Splice_Site_p.D3_splice	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	3					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AAGCATGTCAGGTAAGTGGCA	0.313000														128			39		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782274	54782274	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54782274G>A	uc002qfb.3	-	6	1364	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.L366L|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.L366L|LILRB2_uc010yet.2_Silent_p.L250L|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	366	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATCTTAGACGGAGTGGGGCAT	0.572000														154			55		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724283	7724283	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:7724283C>T	uc001aoi.3	+	8	1883	c.1676C>T	c.(1675-1677)tCc>tTc	p.S559F		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCAGCCAGCTCCCTCACCCTG	0.662000			T	WWTR1	epitheliod hemangioendothelioma									66			21		0	0	1	0	0
AZGP1	563	broad.mit.edu	37	7	99566032	99566032	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99566032C>T	uc003ush.3	-	2	451	c.359G>A	c.(358-360)aGg>aAg	p.R120K		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	120					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)					ACAACCAAACCTTCCCTGCAA	0.433000														410			40		0	0	1	0	0
ERP27	121506	broad.mit.edu	37	12	15090909	15090909	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:15090909C>T	uc001rco.3	-	1	193	c.172G>A	c.(172-174)Gtg>Atg	p.V58M		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA.	58	Thioredoxin.					endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						ATGACAGCCACCTCAGTGGCA	0.532000														143			33		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77286708	77286708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77286708G>A	uc004aji.3	+	8	1197	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	RORB_uc004ajh.3_Missense_Mutation_p.R372Q	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	383	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCATCAGACCGAGCCTGGCTT	0.408000														52			18		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66462294	66462294	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:66462294G>A	uc021xzk.1	+	28	7595	c.7287G>A	c.(7285-7287)acG>acA	p.T2429T	MAST4_uc003jut.2_Silent_p.T2240T|MAST4_uc003juw.3_Silent_p.T2168T|MAST4_uc003jux.3_5'UTR	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2432						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCCACCGACGGAGGCAGACA	0.662000											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		8			6		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73043362	73043362	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:73043362A>G	uc003pga.3	+	28	4267	c.4190A>G	c.(4189-4191)aAg>aGg	p.K1397R	RIMS1_uc011dyb.2_Missense_Mutation_p.K794R|RIMS1_uc003pgc.3_Missense_Mutation_p.K846R|RIMS1_uc010kaq.3_Missense_Mutation_p.K717R|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Intron|RIMS1_uc011dyd.2_Intron|RIMS1_uc003pge.3_Missense_Mutation_p.K437R|RIMS1_uc003pgf.3_Missense_Mutation_p.K397R|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Missense_Mutation_p.K463R|RIMS1_uc011dye.2_Missense_Mutation_p.K203R|RIMS1_uc011dyf.2_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1397	Ser-rich.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCCATCATGAAGAGCACCAGT	0.448000														9			3		0	0	1	0	0
GNL2	29889	broad.mit.edu	37	1	38034744	38034744	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:38034744G>A	uc001cbk.3	-	12	1739	c.1576C>T	c.(1576-1578)Ctc>Ttc	p.L526F		NM_013285	NP_037417	Q13823	NOG2_HUMAN	Homo sapiens guanine nucleotide binding protein-like 2 (nucleolar) (GNL2), mRNA.	526					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				ACTCGTGTGAGAATCTGCTGC	0.473000														81			36		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122854132	122854132	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:122854132G>A	uc003ieg.2	-	1	355	c.281C>T	c.(280-282)gCt>gTt	p.A94V	TRPC3_uc010inr.2_Missense_Mutation_p.A21V|TRPC3_uc003ief.2_Missense_Mutation_p.A21V|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	9					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCCCCTGACAGCCTGGCGCCG	0.607000														50			7		0	0	1	0	0
GPR87	53836	broad.mit.edu	37	3	151012587	151012587	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151012587G>A	uc003eyt.2	-	2	808	c.447C>T	c.(445-447)gaC>gaT	p.D149D	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.	149						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACATCCGAGAGTCCCCAAATG	0.418000														62			13		0	0	1	0	0
FRZB	2487	broad.mit.edu	37	2	183731065	183731065	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:183731065G>A	uc002upa.2	-	0	434	c.216C>T	c.(214-216)ttC>ttT	p.F72F		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	Homo sapiens frizzled-related protein (FRZB), mRNA.	72	FZ.				Wnt receptor signaling pathway|brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GCAGACCTTCGAACTGCTCGA	0.602000														46			26		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380736	147380736	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:147380736C>T	uc021ovm.1	+	0	654	c.654C>T	c.(652-654)ttC>ttT	p.F218F	GJA8_uc001epu.2_Silent_p.F218F	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	218					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGTCCCTATTCCTCAACGTGA	0.592000														69			23		0	0	1	0	0
FAM116B	414918	broad.mit.edu	37	22	50757412	50757412	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50757412G>A	uc011arv.1	-	1	270	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA.	66										endometrium(1)|kidney(1)|lung(2)|skin(1)	5		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTGAGCCGGAAGTCGTTCG	0.577000														7			10		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20849204	20849204	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20849204G>A	uc001vxe.3	-	33	4688	c.4648_splice	c.e33-1	p.L1550_splice	TEP1_uc010ahk.3_Splice_Site_p.L893_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.L1442_splice|TEP1_uc010tlh.1_Splice_Site	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1550					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCGCTCTGGAGCTGAGAAGGT	0.517000														32			9		0	0	1	0	0
C5orf25	375484	broad.mit.edu	37	5	175764149	175764149	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:175764149G>A	uc003mds.4	+	11	2763	c.2356_splice	c.e11+1	p.E786_splice	C5orf25_uc003mdr.3_Splice_Site|C5orf25_uc003mdt.4_Splice_Site_p.E371_splice|C5orf25_uc003mdv.3_Splice_Site_p.E247_splice			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	786												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		TGTTTTAAGAGGTAAGGAGCA	0.403000														112			24		0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54951462	54951462	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:54951462C>T	uc004dtq.3	+	5	1553	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	TRO_uc004dts.3_Silent_p.F482F|TRO_uc004dtr.3_Silent_p.F482F|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Silent_p.F85F|TRO_uc011mok.2_Silent_p.F13F|TRO_uc004dtw.3_Silent_p.F85F|TRO_uc004dtx.3_5'UTR|SNORA11_uc022bxj.1_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	482	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATGAATATTTCCCAGAAATCA	0.502000														10			15		0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111861848	111861848	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111861848G>A	uc001eas.3	+	9	1179	c.1022G>A	c.(1021-1023)aGc>aAc	p.S341N	CHIA_uc001ear.3_Missense_Mutation_p.S233N|CHIA_uc001eaq.3_Missense_Mutation_p.S233N|CHIA_uc009wgc.3_Missense_Mutation_p.S233N|CHIA_uc001eat.3_Missense_Mutation_p.S180N|CHIA_uc001eav.3_Missense_Mutation_p.S180N|CHIA_uc001eau.3_Missense_Mutation_p.S180N|CHIA_uc009wgd.3_Missense_Mutation_p.S180N	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	341					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		AACATCAAGAGCTTCGATATT	0.478000														71			27		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79387423	79387423	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:79387423C>T	uc001diq.4	-	8	1288	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	378	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCATGGTATCAGGTGAGTAA	0.403000														99			14		0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84796646	84796646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84796646C>T	uc010voe.2	+	9	1869	c.1618C>T	c.(1618-1620)Cat>Tat	p.H540Y	USP10_uc002fii.3_Missense_Mutation_p.H536Y|USP10_uc010vof.2_Missense_Mutation_p.H98Y|USP10_uc002fij.3_Missense_Mutation_p.H62Y	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	536					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						AAATGGACTTCATGAGGAAAT	0.408000														137			38		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11725328	11725328	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:11725328G>A	uc002rbk.1	+	7	1243	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	GREB1_uc002rbl.3_Missense_Mutation_p.G315R|GREB1_uc002rbn.1_Missense_Mutation_p.G315R	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	315						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACGCCACAAAGGGTGGTCTCC	0.502000														26			15		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515037	233515037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233515037G>A	uc001hvt.4	+	8	2546	c.2285G>A	c.(2284-2286)gGa>gAa	p.G762E	KIAA1804_uc001hvu.4_Missense_Mutation_p.G208E	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	762					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				AAACGAGAGGGAATCTTCCAG	0.602000														81			21		0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54363639	54363639	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:54363639C>T	uc002lgk.1	+	11	1735	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	WDR7_uc010dpk.1_Intron|WDR7_uc002lgl.1_Silent_p.F508F	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	508										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AACATATCTTCTGTGTTCATG	0.363000														103			33		0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117876	20117876	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:20117876G>A	uc002noq.3	-	3	558	c.435C>T	c.(433-435)ttC>ttT	p.F145F	ZNF682_uc002noo.3_Silent_p.F113F|ZNF682_uc002nop.3_Silent_p.F113F|ZNF682_uc010eck.3_Silent_p.F69F	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TATTATATGGGAAAATTTTGC	0.308000														44			20		0	0	1	0	0
FBP2	8789	broad.mit.edu	37	9	97355969	97355969	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:97355969G>A	uc004auv.3	-	0	107	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L		NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	14					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TAGCGGGTCAGGGTGAGCATG	0.552000														51			12		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21715852	21715852	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21715852C>T	uc001rfb.3	-	7	1317	c.1062_splice	c.e7+1	p.R354_splice		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	354					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCTTTCTTACCCTCAGCAGGA	0.383000														156			24		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62026827	62026827	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62026827G>A	uc002jds.1	-	14	2992	c.2915C>T	c.(2914-2916)cCc>cTc	p.P972L		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	972					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CTCCTCGGGGGGCTTGTAGTC	0.642000														17			4		0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13125237	13125237	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:13125237G>A	uc010mia.1	-	33	4842	c.4785C>T	c.(4783-4785)tcC>tcT	p.S1595S	MPDZ_uc003zky.4_Silent_p.S157S|MPDZ_uc010mib.3_Silent_p.S300S|MPDZ_uc010mhx.3_Silent_p.S417S|MPDZ_uc011lmm.2_Silent_p.S454S|MPDZ_uc003zkz.4_Silent_p.S288S|MPDZ_uc010mhz.3_Silent_p.S1562S|MPDZ_uc011lmn.2_Silent_p.S1562S|MPDZ_uc010mhy.3_Silent_p.S1595S|MPDZ_uc003zlb.4_Silent_p.S1595S	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1595					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCGGTTCTGGGGAGCCAGACT	0.547000														47			24		0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187416366	187416366	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:187416366G>A	uc003fro.1	-	1	1027	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA.	200					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	p.R200C(2)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		AGGCACCAGCGAAGAGACAAG	0.592000														72			16		0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15562664	15562664	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15562664C>T	uc002nbe.2	-	17	3064	c.2978G>A	c.(2977-2979)gGg>gAg	p.G993E	WIZ_uc002nbb.4_5'Flank|RASAL3_uc002nbd.3_3'UTR	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	993					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						ACTCCAAGACCCCCGCGTCCT	0.607000														57			30		0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342696	29342696	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29342696G>A	uc003nme.3	-	0	373	c.369C>T	c.(367-369)gcC>gcT	p.A123A		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GATTGCAGATGGCAACAAAAC	0.488000														56			10		0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116631459	116631459	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:116631459G>T	uc003yny.3	-	2	1444	c.866C>A	c.(865-867)tCc>tAc	p.S289Y	TRPS1_uc011lhy.2_Missense_Mutation_p.S280Y|TRPS1_uc003ynz.3_Missense_Mutation_p.S276Y|TRPS1_uc010mcy.3_Missense_Mutation_p.S276Y	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	276					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAAGTCTTTGGAATGGCTGAA	0.468000									Langer-Giedion syndrome					38			28		1.74197e-06	1.74554e-06	1	1	0
TSPYL1	7259	broad.mit.edu	37	6	116599704	116599704	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:116599704C>T	uc003pwp.4	-	0	1577	c.1290G>A	c.(1288-1290)agG>agA	p.R430R	DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'Flank|DSE_uc003pwr.3_5'Flank|DSE_uc003pws.3_5'Flank	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN	Homo sapiens TSPY-like 1 (TSPYL1), mRNA.	430					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		ACCCAAAGGGCCTGGGGATCT	0.552000														49			15		0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5890243	5890243	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:5890243G>A	uc002kmx.1	-	0	1861	c.1820C>T	c.(1819-1821)tCt>tTt	p.S607F		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	607						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TATGGCATGAGACCTGGAAAT	0.547000														100			38		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179447116	179447116	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179447116C>T	uc021vsy.1	-	262	58588	c.58363G>A	c.(58363-58365)Ggc>Agc	p.G19455S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G13150S|TTN_uc021vta.1_Missense_Mutation_p.G13083S|TTN_uc021vtb.1_Missense_Mutation_p.G12958S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20382	Fibronectin type-III 41.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E19455*(1)		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)			TACTCATGGCCCTCTATAAGT	0.453000														44			19		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104640107	104640107	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:104640107G>A	uc001yos.4	+	9	1932	c.1932G>A	c.(1930-1932)agG>agA	p.R644R		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	644	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CGGCTGGCAGGGCCGGGGAGG	0.667000														18			12		0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109017754	109017754	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:109017754C>T	uc010sxe.2	-	1	555	c.378G>A	c.(376-378)ggG>ggA	p.G126G	SELPLG_uc001tni.3_Silent_p.G110G|SELPLG_uc021rdm.1_Silent_p.G110G|SELPLG_uc001tnh.3_Silent_p.G110G	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	110	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TGGACAGGTTCCCCATGTTGG	0.607000														50			27		0	0	1	0	0
SFN	2810	broad.mit.edu	37	1	27190435	27190435	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27190435G>A	uc010ofi.1	-	0		c.15C>T			BC016143_uc021ojq.1_Intron|SFN_uc001bnc.1_Silent_p.Q244Q			P31947	1433S_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100016887 3' read SFN mRNA.						DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGGCTCCCCAGGAGCCCCAGA	0.677000														36			20		0	0	1	0	0
GSTA3	2940	broad.mit.edu	37	6	52764807	52764807	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:52764807T>A	uc003pbb.3	-	4	418	c.339A>T	c.(337-339)cgA>cgT	p.R113R	GSTA3_uc010jzq.3_Silent_p.R57R	NM_000847	NP_000838	Q16772	GSTA3_HUMAN	Homo sapiens glutathione S-transferase alpha 3 (GSTA3), mRNA.	113	GST C-terminal.		R -> Q.	RP -> PA (in Ref. 1; AAA74634).	glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.R113*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTTCCTCAGGTCGACATAAGG	0.393000														223			103		0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39884112	39884112	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:39884112C>T	uc003axv.4	+	1	999	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	MGAT3_uc010gxy.3_Missense_Mutation_p.R254W	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	254					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	p.R254L(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCTCAAGTTCCGGGAGATGCT	0.642000														72			27		0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79514186	79514186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:79514186G>A	uc002kaq.3	-	4	1995	c.1922C>T	c.(1921-1923)cCc>cTc	p.P641L	C17orf70_uc002kao.1_Missense_Mutation_p.P290L|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.P490L	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	641					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCTGCTCAGGGGCAGGCAAAC	0.692000														88			21		0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169711903	169711903	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169711903G>A	uc002ueg.3	+	10	1163	c.897G>A	c.(895-897)aaG>aaA	p.K299K	NOSTRIN_uc002uef.3_Silent_p.K356K|NOSTRIN_uc002ueh.3_Silent_p.K221K|NOSTRIN_uc010fpu.3_Silent_p.K271K|NOSTRIN_uc002uek.3_5'Flank	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	299					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AGAGACGAAAGTCTTTACTAA	0.388000														66			10		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27801613	27801613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27801613G>A	uc002rkz.4	+	0	2225	c.2174G>A	c.(2173-2175)gGg>gAg	p.G725E		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	725										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TTACAAGTAGGGACTGACTTC	0.428000														88			37		0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55080480	55080480	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55080480G>A	uc001cxn.3	-	3	600	c.468C>T	c.(466-468)ctC>ctT	p.L156L	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	156						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GCTGCCGCAGGAGGTCCAGGG	0.552000														52			14		0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43907535	43907535	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:43907535C>T	uc010dap.3	+	6	862	c.597C>T	c.(595-597)ttC>ttT	p.F199F	CRHR1_uc010wjx.2_5'UTR|CRHR1_uc002ijp.3_Silent_p.F69F|CRHR1_uc002ijm.3_Silent_p.F170F|CRHR1_uc002ijn.3_Silent_p.F130F|CRHR1_uc010dar.3_Silent_p.F170F|CRHR1_uc010dao.3_Silent_p.F69F|CRHR1_uc010daq.3_Intron|CRHR1_uc021tyu.1_5'UTR|CRHR1_uc010das.1_Non-coding_Transcript|CRHR1_uc002ijo.1_Non-coding_Transcript	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	199					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCACCTGGTTCGTGGTCCAGC	0.632000														34			25		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118360862	118360862	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118360862C>T	uc001pta.3	+	12	4617	c.4594C>T	c.(4594-4596)Cgc>Tgc	p.R1532C	MLL_uc001ptb.3_Missense_Mutation_p.R1532C|MLL_uc001pte.1_Non-coding_Transcript	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1532					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAAGTGTGTTCGCTGTAAGAG	0.383000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									52			14		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14832636	14832636	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:14832636C>T	uc001rcd.3	-	5	922	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	GUCY2C_uc009zhz.2_Missense_Mutation_p.R262Q	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	262					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	p.R262L(2)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGCCACTGCTCGGTCACCCTT	0.418000														99			40		0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	11	11373680	11373680	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:11373680C>T	uc001mjp.3	-	0	1225	c.987G>A	c.(985-987)aaG>aaA	p.K329K	GALNTL4_uc001mjo.2_Intron	NM_177559	NP_808227	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	329					Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GAGCCTGGTCCTTCACAACAG	0.542000														96			25		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48164723	48164723	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:48164723C>T	uc002efc.1	-	7	1558	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.A404A	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	404						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GAGAGACATTCGCTTCAGCCA	0.423000														40			20		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892569	166892569	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166892569C>T	uc002udo.4	-	17	3645	c.3418G>A	c.(3418-3420)Gaa>Aaa	p.E1140K	SCN1A_uc010fpk.3_Missense_Mutation_p.E1112K|SCN1A_uc021vsb.1_Missense_Mutation_p.E1129K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1140						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTTTGCTTTCTTCCAGATCC	0.358000														116			33		0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42320605	42320605	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:42320605G>A	uc003xpe.3	-	3	803	c.434C>T	c.(433-435)gCt>gTt	p.A145V	SLC20A2_uc010lxl.3_Missense_Mutation_p.A145V|SLC20A2_uc010lxm.3_Missense_Mutation_p.A145V	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	145					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|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;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAACCAAGAAGCAACTGAATA	0.308000														42			4		0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121447	50121447	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50121447C>T	uc001jhd.3	-	0	834	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.E252K	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	252						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTCCAGTCTTCCCAGGAGTCC	0.547000														145			72		0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129915067	129915067	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:129915067G>A	uc003vpq.3	+	5	584	c.565G>A	c.(565-567)Gca>Aca	p.A189T	CPA2_uc011kpc.1_Missense_Mutation_p.A189T	NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	189					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					ACAAGCTACGGCACTTTGGAC	0.502000														45			11		0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294748	124294748	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124294748G>A	uc010sak.2	-	0	20	c.20C>T	c.(19-21)tCc>tTc	p.S7F		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S7F(2)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		AGTCACTGAGGAGCTGTTTCT	0.483000														44			10		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470832	10470832	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10470832G>A	uc003wtc.3	-	3	1005	c.776C>T	c.(775-777)cCg>cTg	p.P259L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	259					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)		GATCACACTCGGCTTGGTCTT	0.602000														59			29		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692569	135692569	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:135692569G>A	uc003lbn.2	-	1	729	c.507C>T	c.(505-507)atC>atT	p.I169I	TRPC7_uc010jef.2_Silent_p.I160I|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.I169I|TRPC7_uc010jei.2_Silent_p.I169I	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	169					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCGCCGCCAGGATGATGGGCG	0.632000														161			65		0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765398	171765398	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:171765398G>A	uc003mbr.3	-	12	2882	c.2711C>T	c.(2710-2712)tCc>tTc	p.S904F		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	904	SH3 4.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGATAGTTGGAAGGAATCCA	0.547000														95			30		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984100	85984100	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:85984100C>T	uc010qmc.2	-	1	889	c.881G>A	c.(880-882)aGa>aAa	p.R294K	LRIT2_uc001kcy.3_Missense_Mutation_p.R294K	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	294	Ig-like.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						ATCAAATTCTCTCCACATACT	0.512000														41			5		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480800	140480800	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140480800G>A	uc003lio.3	+	0	567	c.567G>A	c.(565-567)agG>agA	p.R189R	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	189	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGACGGAAGGAAGTACCCGG	0.567000														82			23		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317955	31317955	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:31317955G>A	uc003jhe.2	+	10	2166	c.1806G>A	c.(1804-1806)gcG>gcA	p.A602A	CDH6_uc003jhd.2_Silent_p.A602A	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	602	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCTGCCATGCGGAGGCGCTCA	0.572000														48			19		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113549986	113549986	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113549986C>T	uc022blv.1	+	13	1929	c.1795C>T	c.(1795-1797)Ccc>Tcc	p.P599S	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.P510S|MUSK_uc022blu.1_Missense_Mutation_p.P500S	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	599	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGGCTTACTTCCCTATGAACC	0.443000														23			9		0	0	1	0	0
ZNF572	137209	broad.mit.edu	37	8	125989084	125989084	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:125989084G>A	uc003yrr.3	+	2	729	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CCAGTGTGGTGAATGTGGGAA	0.443000										HNSCC(60;0.17)				81			40		0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922231	159922231	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159922231C>T	uc001fus.3	-	2	602	c.485G>A	c.(484-486)gGc>gAc	p.G162D	SLAMF9_uc009wtd.3_Intron|SLAMF9_uc001fut.3_Intron	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	162	Ig-like C2-type.					integral to membrane		p.G162D(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATATCCATGCCTGCCTTCTC	0.577000														98			65		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54798336	54798336	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:54798336G>A	uc003dhf.3	+	12	1386	c.1338G>A	c.(1336-1338)caG>caA	p.Q446Q	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.Q352Q|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.Q180Q	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	446						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TCATCGACCAGGAGCATGATG	0.512000														74			39		0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11052763	11052763	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:11052763G>A	uc002rax.3	+	0	701	c.211G>A	c.(211-213)Gac>Aac	p.D71N		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	71						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CGACGACTACGACCCCGGCAA	0.597000														34			18		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10996112	10996112	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:10996112C>T	uc002yis.1	-	11		c.2074G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		AGTTCGACTTCTTTGCCGCAC	0.398000														132			22		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190032	233190032	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233190032G>A	uc001hvl.2	-	24	4568	c.4333C>T	c.(4333-4335)Cga>Tga	p.R1445*	PCNXL2_uc001hvk.1_Nonsense_Mutation_p.R97*|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1445						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)				TCCAGTCCTCGAAGTTGAAAG	0.388000														27			9		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42874365	42874365	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42874365C>T	uc002otl.4	+	37	7293	c.6658C>T	c.(6658-6660)Ccg>Tcg	p.P2220S	MEGF8_uc002otm.4_Missense_Mutation_p.P1828S|MEGF8_uc002otn.4_5'UTR	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2287						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)				GCAGTGCCTCCCGCTGTTTGT	0.612000														49			17		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75051446	75051446	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:75051446C>T	uc009xrc.3	-	18	2303	c.2182G>A	c.(2182-2184)Gat>Aat	p.D728N	TTC18_uc001jty.3_Missense_Mutation_p.D728N|TTC18_uc001jtv.4_5'Flank|TTC18_uc001jtw.4_5'Flank|TTC18_uc001jtx.3_Missense_Mutation_p.D109N	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	728							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CAAGTAGCATCCTCAAAGAAA	0.393000														27			12		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207767	58207767	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:58207767G>A	uc001vhq.1	+	0	1979	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	PCDH17_uc010aec.1_Missense_Mutation_p.E363K	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	363	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGCGCTGAGCGAGGCCGCCCC	0.672000														52			21		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10263371	10263371	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10263371C>T	uc002gmk.1	-	6	641	c.551G>A	c.(550-552)gGg>gAg	p.G184E		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	184	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CACAGTCTTCCCAGCCCCGGA	0.493000														32			28		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86493638	86493638	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:86493638G>A	uc003uid.3	+	5	3706	c.2607G>A	c.(2605-2607)cgG>cgA	p.R869R	GRM3_uc010lef.3_Missense_Mutation_p.G512R|GRM3_uc010leg.3_Silent_p.R741R|GRM3_uc010leh.3_Silent_p.R461R	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	869					synaptic transmission	integral to plasma membrane		p.R869R(3)		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)	GCAATGGGCGGGAAGTCCTCG	0.473000														136			39		0	0	1	0	0
PRSS37	136242	broad.mit.edu	37	7	141536293	141536293	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141536293C>T	uc003vws.2	-	4	982	c.610G>A	c.(610-612)Gga>Aga	p.G204R	PRSS37_uc011krl.2_Missense_Mutation_p.G203R|PRSS37_uc011krk.2_Missense_Mutation_p.G191R|PRSS37_uc003vwt.2_Missense_Mutation_p.G191R	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	204	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.Q203K(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						ACCTCGATTCCCTGGAGCTTG	0.498000														68			31		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24435081	24435081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24435081G>A	uc001bin.4	-	1	209	c.46C>T	c.(46-48)Ccc>Tcc	p.P16S	MYOM3_uc001bio.3_Missense_Mutation_p.P16S|MYOM3_uc001bip.1_5'Flank	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	16										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ATGGCCTGGGGGGGCCGGGGG	0.667000														5			4		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119428057	119428057	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:119428057G>A	uc001ehl.1	-	7	1104	c.789C>T	c.(787-789)tcC>tcT	p.S263S	TBX15_uc009whj.1_Silent_p.S87S	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	369						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GAGGAGAACAGGATGGAGATA	0.498000														19			7		0	0	1	0	0
POTED	317754	broad.mit.edu	37	21	15013746	15013746	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:15013746G>A	uc002yjb.1	+	10	1666	c.1614G>A	c.(1612-1614)ctG>ctA	p.L538L		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	538						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						TGCTAAGACTGGAACTAGATG	0.363000														26			25		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176905489	176905489	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176905489C>T	uc001glc.3	-	14	2607	c.2395G>A	c.(2395-2397)Gaa>Aaa	p.E799K	ASTN1_uc001glb.1_Missense_Mutation_p.E799K|ASTN1_uc001gld.1_Missense_Mutation_p.E799K|ASTN1_uc009wwx.1_Missense_Mutation_p.E799K	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	807					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCAGACACTTCACTGAAGTTC	0.488000														50			34		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9371224	9371224	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9371224G>A	uc021wam.1	+	13	1300	c.1285G>A	c.(1285-1287)Ggg>Agg	p.G429R	PLCB4_uc010gbw.1_Missense_Mutation_p.G429R|PLCB4_uc010gbx.3_Missense_Mutation_p.G429R|PLCB4_uc021wal.1_Missense_Mutation_p.G429R|PLCB4_uc002wnh.3_Missense_Mutation_p.G276R	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	429	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGATCTATTTGGGGATCTCCT	0.343000														31			15		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13052931	13052931	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:13052931G>A	uc002wod.1	+	2	620	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	111					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TCAAGACTTTGAAAATTTTTA	0.428000														154			66		0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43394917	43394917	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:43394917G>A	uc001cik.2	-	6	1461	c.936C>T	c.(934-936)ggC>ggT	p.G312G		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	312					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CGATACCGGAGCCAATGGTGG	0.587000														29			7		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898763	36898763	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36898763C>T	uc003cgj.3	-	11	2566	c.2318G>A	c.(2317-2319)tGg>tAg	p.W773*		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	773					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTGCGTGCTCCAGTCATCCTG	0.542000														297			76		0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153431438	153431438	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153431438G>A	uc001fbv.1	-	1	123	c.52C>T	c.(52-54)Cac>Tac	p.H18Y		NM_002963	NP_002954	P31151	S10A7_HUMAN	Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.	18	EF-hand 1.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGTATTTGTGAAACATGTCG	0.438000														144			54		0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6468113	6468113	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6468113C>T	uc002mfe.3	-	22	1900	c.1808G>A	c.(1807-1809)tGg>tAg	p.W603*	DENND1C_uc002mfb.3_Nonsense_Mutation_p.W153*|DENND1C_uc002mfc.3_Nonsense_Mutation_p.W153*|DENND1C_uc002mfd.3_Nonsense_Mutation_p.W153*|DENND1C_uc010xje.2_Nonsense_Mutation_p.W559*	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	603						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GTCTGGTTGCCATCTTGGTAT	0.537000														25			13		0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139089520	139089520	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139089520G>A	uc004cgz.3	-	5	979	c.860C>T	c.(859-861)gCc>gTc	p.A287V	LHX3_uc022bpm.1_3'UTR|LHX3_uc004cha.3_Missense_Mutation_p.A282V	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	282					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CCGGCCCAAGGCCTGGGTGGG	0.677000														15			4		0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	105151002	105151002	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:105151002C>T	uc001tkz.3	+	2	978	c.480C>T	c.(478-480)aaC>aaT	p.N160N	CHST11_uc001tky.3_Silent_p.N155N	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA.	160					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity	p.A159T(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						TCTCCGCCAACCTGAAGACCC	0.582000														54			17		0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38768163	38768163	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:38768163G>A	uc003tgy.3	-	26	2409	c.2383C>T	c.(2383-2385)Ctt>Ttt	p.L795F	VPS41_uc003tgz.3_Missense_Mutation_p.L770F|VPS41_uc010kxn.3_Missense_Mutation_p.L706F|VPS41_uc003tgx.3_Non-coding_Transcript	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	795					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding	p.L795P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ATAGGGGAAAGGCACGACTCA	0.403000														140			33		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233231504	233231504	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233231504G>A	uc001hvl.2	-	21	4178	c.3943C>T	c.(3943-3945)Cct>Tct	p.P1315S	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Intron|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.	1315						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)				AGGATACGAGGAATGGCAAAG	0.448000														11			6		0	0	1	0	0
FGF18	8817	broad.mit.edu	37	5	170883572	170883572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:170883572C>T	uc003mbk.3	+	4	924	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_003862	NP_003853	O76093	FGF18_HUMAN	Homo sapiens fibroblast growth factor 18 (FGF18), mRNA.	129					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGTGTGTGTTCATCGAGAAGG	0.567000														81			32		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48755478	48755478	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48755478C>T	uc002isl.3	+	24	3683	c.3603C>T	c.(3601-3603)ttC>ttT	p.F1201F	ABCC3_uc002isn.3_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1201	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GAGTGGAGTTCGTGGGGAACT	0.602000														55			55		0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080361	5080361	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5080361A>C	uc010qyw.2	-	0	497	c.497T>G	c.(496-498)tTg>tGg	p.L166W		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GGGCAACCGCAATATAAGAAG	0.423000														24			7		0	0	1	0	0
CHI3L2	1117	broad.mit.edu	37	1	111781455	111781455	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111781455C>T	uc001eam.3	+	7	890	c.819C>T	c.(817-819)ttC>ttT	p.F273F	CHI3L2_uc001ean.3_Silent_p.F263F|CHI3L2_uc001eao.3_Silent_p.F194F	NM_004000	NP_001020370	Q15782	CH3L2_HUMAN	Homo sapiens chitinase 3-like 2 (CHI3L2), transcript variant 1, mRNA.	273					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		GGCACTCCTTCACACTGGCCT	0.562000														167			64		0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70535554	70535554	+	Missense_Mutation	SNP	C	T	T	rs112767369		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:70535554C>T	uc001vip.3	-	2	1497	c.703G>A	c.(703-705)Gac>Aac	p.D235N	KLHL1_uc010thm.2_Missense_Mutation_p.D174N	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	235	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S234S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCAAAATAGTCGGAGACTGAA	0.448000														64			8		0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36538042	36538042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:36538042C>T	uc003aot.3	-	2	453	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	APOL3_uc003aoq.3_Missense_Mutation_p.E68K|APOL3_uc003aor.3_Missense_Mutation_p.E68K|APOL3_uc003aos.3_Missense_Mutation_p.E68K|APOL3_uc003aou.3_5'UTR|APOL3_uc003aov.3_5'UTR|APOL3_uc021wol.1_5'Flank	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	139					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TGCACATATTCGTCCTCAATA	0.438000														62			30		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125405466	125405466	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:125405466G>A	uc010flu.3	+	12	2372	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	CNTNAP5_uc002tno.3_Missense_Mutation_p.D669N	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	669	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGCCGTGATCGACGGCTCTGA	0.632000														19			6		0	0	1	0	0
SLC7A11	23657	broad.mit.edu	37	4	139163150	139163150	+	Missense_Mutation	SNP	G	A	A	rs140307668		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:139163150G>A	uc021xrw.1	-	0	354	c.74C>T	c.(73-75)cCt>cTt	p.P25L		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	25					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	GCCCAGGGAAGGCAGCCTCCC	0.507000														58			20		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110826853	110826853	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:110826853C>T	uc001vqw.4	-	38	3468	c.3346G>A	c.(3346-3348)Gaa>Aaa	p.E1116K		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1116	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCACCTTTTTCTCCAGGTAGC	0.483000														39			20		0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230916261	230916261	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:230916261G>A	uc001htz.1	+	10	1401	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	CAPN9_uc009xfg.1_Missense_Mutation_p.E367K|CAPN9_uc001hua.1_Missense_Mutation_p.E404K	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	430	Domain III.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TGACAAAGACGAACACCTGAA	0.517000														83			32		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31421725	31421725	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31421725T>C	uc010cap.1	+	10	1142	c.1093T>C	c.(1093-1095)Ttc>Ctc	p.F365L	ITGAD_uc002ebv.1_Missense_Mutation_p.F365L	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	365					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGATGGCCTCTTCCTGGGGGC	0.572000														86			46		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119463029	119463029	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:119463029G>A	uc003ede.4	+	13	1965	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	C3orf15_uc010hqz.3_Missense_Mutation_p.E568K|C3orf15_uc011bjd.2_Missense_Mutation_p.E504K|C3orf15_uc011bje.2_Missense_Mutation_p.E610K	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	466						mitochondrion	protein binding	p.D629D(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		GGAGGAGGACGAGATATTTAA	0.562000														38			17		0	0	1	0	0
NGRN	51335	broad.mit.edu	37	15	90814604	90814604	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90814604C>T	uc002bpf.1	+	2	510	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	TTLL13_uc002bpe.1_Non-coding_Transcript|NGRN_uc002bpg.1_Missense_Mutation_p.R82W	NM_001033088	NP_001028260	Q9NPE2	NGRN_HUMAN	Homo sapiens neugrin, neurite outgrowth associated (NGRN), transcript variant 2, mRNA.	154					neuron differentiation	extracellular region|nucleus				kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GCAGCACCTCCGGGGCTCTGG	0.493000														94			20		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29121194	29121194	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29121194G>A	uc002kwu.4	+	12	2106	c.1918G>A	c.(1918-1920)Ggc>Agc	p.G640S		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	640					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TTGCGGAAAGGGCGCCAAAGG	0.428000														71			27		0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21422680	21422680	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21422680C>T	uc001rer.3	-	13	2066	c.1815G>A	c.(1813-1815)ccG>ccA	p.P605P	SLCO1A2_uc010siq.2_Silent_p.P473P|SLCO1A2_uc001res.3_Silent_p.P605P|SLCO1A2_uc010sio.2_Silent_p.P473P|SLCO1A2_uc010sip.2_Silent_p.P473P	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	605					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTAGTGCTGCCGGCAATCCGA	0.343000														102			30		0	0	1	0	0
MANEA	79694	broad.mit.edu	37	6	96053752	96053752	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:96053752C>T	uc003poo.2	+	4	1040	c.860C>T	c.(859-861)tCt>tTt	p.S287F		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.	287	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ACCTCAGGGTCTCGGAGTATT	0.383000														43			25		0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158609049	158609049	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:158609049G>A	uc010jiq.2	-	3	544	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	RNF145_uc011ddy.2_Missense_Mutation_p.R116W|RNF145_uc003lxo.2_Missense_Mutation_p.R130W|RNF145_uc011ddz.2_Missense_Mutation_p.R119W|RNF145_uc003lxp.3_Missense_Mutation_p.R102W|RNF145_uc011dea.2_Missense_Mutation_p.R118W	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	102						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTTCACTCCGAACATAGTCC	0.318000														133			31		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919366	4919366	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4919366G>A	uc001qng.3	+	0	1025	c.159G>A	c.(157-159)gaG>gaA	p.E53E	KCNA6_uc021qtr.1_Silent_p.E53E	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	53						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.F52L(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGCGCTTTGAGACACAATTGC	0.642000										HNSCC(72;0.22)				47			31		0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089247	43089247	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:43089247G>A	uc003bdb.3	-	2	972	c.711C>T	c.(709-711)ttC>ttT	p.F237F	A4GALT_uc021wqo.1_Silent_p.F237F|A4GALT_uc021wqp.1_Silent_p.F237F|A4GALT_uc010gzd.3_Silent_p.F237F|A4GALT_uc021wqq.1_Silent_p.F237F	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	237					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						AGTGGTCCACGAAGTCCCGCA	0.657000														23			7		0	0	1	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41442369	41442369	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41442369G>A	uc010ehg.1	+	2	415	c.407G>A	c.(406-408)gGg>gAg	p.G136E	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Missense_Mutation_p.G136E|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						AGGGACTTCGGGATGGGAAAG	0.562000														27			13		0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101147941	101147941	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:101147941G>A	uc010qpi.2	+	9	2909	c.2620G>A	c.(2620-2622)Gag>Aag	p.E874K	CNNM1_uc001kpp.4_Missense_Mutation_p.E853K|CNNM1_uc009xwf.3_Intron|CNNM1_uc009xwg.3_Missense_Mutation_p.E253K	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	Homo sapiens cyclin M1 (CNNM1), mRNA.	853					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		AAGCCCCAGCGAGGTAGTGTA	0.607000														59			16		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7091658	7091658	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7091658G>A	uc001mfb.1	+	10	3440	c.3117G>A	c.(3115-3117)aaG>aaA	p.K1039K		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	1039					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGTCTTGAAGTCTCCTAAGT	0.388000														60			35		0	0	1	0	0
MYC	4609	broad.mit.edu	37	8	128750684	128750684	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:128750684C>T	uc022bbe.1	+	1	746	c.176C>T	c.(175-177)cCg>cTg	p.P59L	MYC_uc003ysh.1_Missense_Mutation_p.P59L|MYC_uc003ysi.3_Missense_Mutation_p.P74L			P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	59			P -> A (in a Burkitt lymphoma sample).		branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		CTGCCCACCCCGCCCCTGTCC	0.677000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			6		0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39799066	39799066	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39799066C>T	uc002okw.2	-	1	1523	c.1523G>A	c.(1522-1524)cGa>cAa	p.R508Q		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	508	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GCCCACCACTCGCGTTGCCGG	0.677000														19			7		0	0	1	0	0
SPATA9	83890	broad.mit.edu	37	5	95018270	95018270	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:95018270C>T	uc003klj.1	-	1	268	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	SPATA9_uc010jbh.1_Non-coding_Transcript|SPATA9_uc003klh.1_Non-coding_Transcript|SPATA9_uc003kli.1_Non-coding_Transcript	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	Homo sapiens spermatogenesis associated 9 (SPATA9), mRNA.	38					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		GTGGGAAATTCATCTTTAAAC	0.313000														66			23		0	0	1	0	0
GDF5OS	554250	broad.mit.edu	37	20	34021740	34021740	+	Missense_Mutation	SNP	C	T	T	rs146951838		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34021740C>T	uc002xcj.3	+	1	226	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	GDF5_uc010gfc.1_Silent_p.E491E|GDF5_uc002xck.1_Silent_p.E491E					Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds.											cervix(1)|endometrium(4)|lung(4)	9						CGACCATGTCCTCATACTGCT	0.587000														69			35		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005674	74005674	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74005674C>T	uc010wss.1	-	21	3906	c.3678G>A	c.(3676-3678)ccG>ccA	p.P1226P	EVPL_uc002jqi.2_Silent_p.P1204P|EVPL_uc010wst.1_Silent_p.P674P	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1204	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCTCTGTCTCCGGATCCACCT	0.627000														64			28		0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186944252	186944252	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:186944252C>T	uc003frh.2	-	11	1888	c.1498G>A	c.(1498-1500)Gat>Aat	p.D500N		NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	500	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGGGTCGGATCTTCCGGATCG	0.577000														15			3		0	0	1	0	0
LYPD2	137797	broad.mit.edu	37	8	143831740	143831740	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:143831740C>T	uc003ywz.3	-	2	422	c.339G>A	c.(337-339)ggG>ggA	p.G113G		NM_205545	NP_991108	Q6UXB3	LYPD2_HUMAN	Homo sapiens LY6/PLAUR domain containing 2 (LYPD2), mRNA.	113						anchored to membrane|plasma membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	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)					GCGTGAGGGCCCCGCAGTGGA	0.657000														4			3		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668411	176668411	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176668411C>T	uc001gkz.3	+	7	4086	c.2922C>T	c.(2920-2922)ttC>ttT	p.F974F	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	974					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTTCCTTCTTCATGGAGTCCT	0.562000														180			80		0	0	1	0	0
PEG10	23089	broad.mit.edu	37	7	94293537	94293537	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94293537C>T	uc003uno.3	+	1	1148	c.669C>T	c.(667-669)gtC>gtT	p.V223V	PEG10_uc011kie.2_Silent_p.V299V|PEG10_uc022ahn.1_Silent_p.V223V	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	223	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.V223V(2)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ACCTCGAGGTCGCCAAGTCGC	0.627000														55			48		0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37323488	37323488	+	Missense_Mutation	SNP	C	T	T	rs140013994		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:37323488C>T	uc003cgv.3	+	2	562	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	GOLGA4_uc010hgr.2_Intron|GOLGA4_uc003cgw.3_Missense_Mutation_p.R90W|GOLGA4_uc010hgs.3_Missense_Mutation_p.R68W|GOLGA4_uc003cgx.3_5'Flank|GOLGA4_uc003cgu.2_Missense_Mutation_p.R90W	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	68					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTCCAGCTCCGGGTGCCCTC	0.443000														117			14		0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203420441	203420441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:203420441C>T	uc002uzf.4	+	11	3201	c.2053C>T	c.(2053-2055)Ctc>Ttc	p.L685F	BMPR2_uc010ftr.3_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	685					BMP signaling pathway|anterior/posterior pattern formation|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TGATGAGAATCTCATGGAGCA	0.448000														81			18		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60749489	60749489	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:60749489G>A	uc002jad.3	+	7	1839	c.1437G>A	c.(1435-1437)gaG>gaA	p.E479E		NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	479	C-type lectin 2.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ACAGTCTGGAGGACTGTGTCA	0.562000														101			40		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915071	176915071	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176915071C>T	uc001glc.3	-	12	2452	c.2240G>A	c.(2239-2241)gGa>gAa	p.G747E	ASTN1_uc001glb.1_Missense_Mutation_p.G747E|ASTN1_uc001gld.1_Missense_Mutation_p.G747E|ASTN1_uc009wwx.1_Missense_Mutation_p.G747E	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	755					cell migration|neuron cell-cell adhesion	integral to membrane		p.Q743fs*11(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCTGAATGTTCCTTTCAGCAC	0.438000														133			61		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295578	29295578	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29295578G>A	uc002rmt.2	-	0	1550	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	517					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GTCAGCAGGTGAAGATTGTGG	0.542000														94			56		0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14749141	14749142	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:14749141_14749142GG>AA	uc002mzi.4	-	10	1407_1408	c.1259_1260CC>TT	c.(1258-1260)tcc>tTT	p.S420F	EMR3_uc010dzp.3_Missense_Mutation_p.S368F|EMR3_uc010xnv.2_Missense_Mutation_p.S294F	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	420					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CGGCGATGATGGAGCACAGCAC	0.589000														37			8		0	0	1	0	0
IL27	246778	broad.mit.edu	37	16	28513323	28513323	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:28513323C>T	uc002dqc.3	-	3	459	c.436G>A	c.(436-438)Gat>Aat	p.D146N	NPIPL1_uc010vct.2_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	Homo sapiens interleukin 27 (IL27), mRNA.	146					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation|regulation of defense response to virus	extracellular space	cytokine activity|interleukin-27 receptor binding	p.R145H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						CGCTGCAGATCGCGGAGGTCC	0.652000														81			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585180	179585180	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179585180C>T	uc021vsy.1	-	76	19802	c.19577G>A	c.(19576-19578)gGg>gAg	p.G6526E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3187E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7453	Ig-like 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P6525T(1)		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)			GTGATATTCCCCGACATCGGA	0.378000														105			38		0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49244174	49244174	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49244174C>T	uc002pkj.3	-	9	1592	c.1044G>A	c.(1042-1044)agG>agA	p.R348R	RASIP1_uc002pki.3_5'Flank|IZUMO1_uc010eme.3_Non-coding_Transcript|IZUMO1_uc010emf.3_Non-coding_Transcript	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN	Homo sapiens izumo sperm-egg fusion 1 (IZUMO1), mRNA.	348					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTTATTGTTGCCTCGAATCTG	0.512000														33			18		0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102964006	102964006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:102964006C>T	uc001ylw.2	+	18	4257	c.4031C>T	c.(4030-4032)cCc>cTc	p.P1344L	TECPR2_uc010txx.2_Missense_Mutation_p.P507L	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	1344							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GACAAGAACCCCGCCGGGGAC	0.672000														19			6		0	0	1	0	0
C7orf62	219557	broad.mit.edu	37	7	88423588	88423588	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:88423588G>A	uc003ujv.3	-	1	851	c.669C>T	c.(667-669)ttC>ttT	p.F223F	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Silent_p.F223F	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	223										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						CCGGGTCCATGAATTCTTCGG	0.438000														69			33		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234112908	234112908	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234112908G>A	uc010zmo.2	+	24	3178	c.3025G>A	c.(3025-3027)Gaa>Aaa	p.E1009K	INPP5D_uc010zmp.2_Missense_Mutation_p.E1008K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1038	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)		GAAGGACCAGGAATCCCCCAA	0.637000														52			16		0	0	1	0	0
TRIM61	391712	broad.mit.edu	37	4	165890967	165890967	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:165890967C>T	uc003iqw.3	-	2	799	c.188G>A	c.(187-189)aGg>aAg	p.R63K		NM_001012414	NP_001012414	Q5EBN2	TRI61_HUMAN	Homo sapiens tripartite motif containing 61 (TRIM61), mRNA.	63						intracellular	zinc ion binding			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		TATAAATTTCCTTTCTGGACA	0.453000														121			15		0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51041867	51041867	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:51041867C>T	uc003bmx.3	+	2	504	c.387C>T	c.(385-387)tcC>tcT	p.S129S	MAPK8IP2_uc003bmy.3_Silent_p.S102S|MAPK8IP2_uc011asc.2_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	129	JNK-binding domain (JBD).				MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCCCCTTCCGTGGAGGAGC	0.697000														9			6		0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89618032	89618032	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:89618032C>T	uc001dna.2	-	4	683	c.544G>A	c.(544-546)Gat>Aat	p.D182N	GBP2_uc001dmy.1_5'Flank	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	182						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AGGGTAAAATCTCGAACAGTC	0.468000														154			31		0	0	1	0	0
PSKH1	5681	broad.mit.edu	37	16	67942812	67942812	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67942812G>A	uc002euv.3	+	1	330	c.160G>A	c.(160-162)Gca>Aca	p.A54T	PSKH1_uc010cet.2_Missense_Mutation_p.A54T	NM_006742	NP_006733	P11801	KPSH1_HUMAN	Homo sapiens protein serine kinase H1 (PSKH1), mRNA.	54						Golgi apparatus|endoplasmic reticulum membrane|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		CGGGTTCCCAGCAGCAAGTCA	0.602000														31			10		0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58520251	58520251	+	Splice_Site	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58520251T>A	uc003dkl.3	-	3	336	c.161_splice	c.e3-1	p.E54_splice		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	54					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TGATGCTCTCTGCAGAGGACA	0.498000														51			24		0	0	1	0	0
WNT5A	7474	broad.mit.edu	37	3	55504313	55504313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:55504313G>A	uc003dhn.3	-	4	1268	c.950C>T	c.(949-951)tCg>tTg	p.S317L	WNT5A_uc003dhm.3_Missense_Mutation_p.S302L|WNT5A_uc010hmw.3_Missense_Mutation_p.S302L|WNT5A_uc010hmx.3_Missense_Mutation_p.S228L	NM_003392	NP_003383	P41221	WNT5A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5A (WNT5A), transcript variant 1, mRNA.	317					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of BMP signaling pathway|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell chemotaxis|positive regulation of angiogenesis|positive regulation of cGMP metabolic process|positive regulation of cartilage development|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CGTGCCCAGCGAGCCGGTGCT	0.627000														44			18		0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48472032	48472032	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:48472032C>T	uc002xuv.1	+	7	837	c.627C>T	c.(625-627)ttC>ttT	p.F209F	SLC9A8_uc010zym.1_5'UTR|SLC9A8_uc010zyj.1_Silent_p.F225F|SLC9A8_uc010zyk.1_Nonsense_Mutation_p.Q198*|SLC9A8_uc010zyl.1_Nonsense_Mutation_p.Q170*|SLC9A8_uc010gib.1_Nonsense_Mutation_p.Q164*	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 8 (SLC9A8), mRNA.	209						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTGCCATTTTCAATGCACTTC	0.478000														101			42		0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271747	59271747	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59271747G>A	uc001noa.1	+	0	699	c.699G>A	c.(697-699)agG>agA	p.R233R		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G232R(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GAGGGGGCAGGAGGAAAGCCA	0.552000														166			81		0	0	1	0	0
SLC2A11	66035	broad.mit.edu	37	22	24210737	24210737	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:24210737C>T	uc011ajc.1	+	2	701	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	SLC2A11_uc002zyl.1_Silent_p.L71L|SLC2A11_uc002zym.4_Silent_p.L71L|SLC2A11_uc002zyn.4_Silent_p.L64L|SLC2A11_uc002zyo.4_Non-coding_Transcript|SLC2A11_uc011ajd.1_Silent_p.L58L|SLC2A11_uc002zyp.4_Silent_p.L67L			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	64						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						TCACCTAGTCCTGCTTATGTG	0.562000														94			16		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104170845	104170845	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104170845G>A	uc001kvg.1	-	8	2498	c.1971C>T	c.(1969-1971)ctC>ctT	p.L657L	PSD_uc001kvh.1_Silent_p.L278L|PSD_uc009xxd.1_Silent_p.L657L	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	657	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TGAGCAGCATGAGCGCACAGG	0.647000														73			14		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118372518	118372518	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118372518C>T	uc001pta.3	+	25	6465	c.6442C>T	c.(6442-6444)Ccc>Tcc	p.P2148S	MLL_uc001ptb.3_Missense_Mutation_p.P2151S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2148					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GATTCGAACACCCAGTTATTC	0.463000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									149			56		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900161	151900161	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151900161C>T	uc022chj.1	-	0	640	c.640G>A	c.(640-642)Gac>Aac	p.D214N	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.D214N|MAGEA12_uc022chi.1_Missense_Mutation_p.D214N|MAGEA12_uc004fgc.3_Missense_Mutation_p.D214N	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	214	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCACAGTCGCCCTCTTTT	0.582000														72			87		0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52604148	52604148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:52604148C>T	uc001vgb.3	+	1	1770	c.1208C>T	c.(1207-1209)tCt>tTt	p.S403F	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Missense_Mutation_p.S403F	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	403					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CATGAGGTTTCTGCAAGTGAG	0.498000														75			25		0	0	1	0	0
STAC2	342667	broad.mit.edu	37	17	37374290	37374290	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:37374290G>A	uc002hrs.3	-	1	512	c.227C>T	c.(226-228)cCt>cTt	p.P76L	STAC2_uc010cvt.3_Intron	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN	Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA.	76	Pro-rich.				intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TGGGGAGGGAGGGGGCAGTGG	0.667000														7			4		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214815813	214815813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:214815813C>T	uc001hkm.3	+	11	4306	c.4132C>T	c.(4132-4134)Cct>Tct	p.P1378S		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1475					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGAACAGCACCCTGTGTCTTT	0.408000														68			6		0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100118719	100118719	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:100118719G>A	uc010avs.3	+	1	479	c.414G>A	c.(412-414)ctG>ctA	p.L138L	HHIPL1_uc001ygl.1_Silent_p.L138L	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	138					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCTGGGCGCTGGAGGGCAACC	0.602000														58			12		0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811088	23811088	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:23811088G>A	uc001ywh.4	+	0	635	c.159G>A	c.(157-159)agG>agA	p.R53R	MKRN3_uc001ywi.3_Silent_p.R53R|MKRN3_uc010ayi.1_Silent_p.R53R	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	53						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ATGCGGCAAGGGGCTGGGCCC	0.687000														55			13		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28906923	28906923	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28906923C>T	uc002kwp.3	+	2	383	c.171C>T	c.(169-171)gcC>gcT	p.A57A		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	57	Cadherin 1.				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	p.A57T(1)		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)			TCGCAGCAGCCTGTCGTGAAG	0.398000														99			24		0	0	1	0	0
SEC1	653677	broad.mit.edu	37	19	49183940	49183940	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49183940G>A	uc010xzv.2	+	4	1087	c.960G>A	c.(958-960)gcG>gcA	p.A320A	SEC1_uc002pka.3_Silent_p.A280A|SEC1_uc010xzw.2_Silent_p.A237A|SEC1_uc010ema.3_Silent_p.A226A					Homo sapiens secretory blood group 1 (SEC1), non-coding RNA.																		TACCTGCAGCGGGCCCTGGAC	0.692000														3			3		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940807	113940807	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113940807G>A	uc002tjc.3	+	1	957	c.774G>A	c.(772-774)gaG>gaA	p.E258E	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.E257E|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	258					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.E258E(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGCTCAGAGAACAGTGCTT	0.607000														65			28		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163693182	163693182	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:163693182C>T	uc002uch.2	-	1	401	c.172G>A	c.(172-174)Gat>Aat	p.D58N	KCNH7_uc002uci.3_Missense_Mutation_p.D58N	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	58	PAS.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGCATGACATCTGGCCTGGAG	0.468000														51			34		0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29429863	29429863	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29429863G>A	uc003nmi.3	+	2	760	c.317G>A	c.(316-318)gGg>gAg	p.G106E	OR2H1_uc003nmj.1_Missense_Mutation_p.G106E|OR2H1_uc010jri.2_Missense_Mutation_p.G28E|OR2H1_uc021ytr.1_Missense_Mutation_p.G106E	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						CTGTCCCTGGGGACCACTGAG	0.587000														103			41		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2820047	2820047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2820047G>A	uc022aqr.1	-	60	9959	c.9569C>T	c.(9568-9570)tCc>tTc	p.S3190F	CSMD1_uc011kwj.2_Missense_Mutation_p.S2520F|CSMD1_uc010lrg.3_Missense_Mutation_p.S1082F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3191	Sushi 26.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTTCTGGAGGATCCCACGAG	0.502000														30			10		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207133	58207133	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:58207133C>T	uc001vhq.1	+	0	1345	c.453C>T	c.(451-453)ttC>ttT	p.F151F	PCDH17_uc010aec.1_Silent_p.F151F	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	151	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R150C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCACCCGCTTCCCCCTCACCA	0.617000														28			10		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43508587	43508587	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43508587G>A	uc001zrb.4	-	1	465	c.165C>T	c.(163-165)gcC>gcT	p.A55A	EPB42_uc001zra.4_Silent_p.A25A|EPB42_uc010udm.2_Silent_p.A25A	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	25					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GGGAGCTGAGGGCCTTGGTGT	0.562000														95			9		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372859	24372859	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:24372859G>A	uc002dmf.3	+	3	1825	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	208					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CAGCAGTTACGAGCCAAATCC	0.488000														103			29		0	0	1	0	0
SIRT2	22933	broad.mit.edu	37	19	39384091	39384092	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39384091_39384092GG>AA	uc002ojt.2	-	3	529_530	c.188_189CC>TT	c.(187-189)acc>aTT	p.T63I	SIRT2_uc010egi.2_Missense_Mutation_p.T26I|SIRT2_uc002ojs.2_Missense_Mutation_p.T43I|SIRT2_uc002oju.2_Missense_Mutation_p.T26I|SIRT2_uc010egh.2_Missense_Mutation_p.T26I|SIRT2_uc002ojv.2_Missense_Mutation_p.T63I	NM_012237	NP_085096	Q8IXJ6	SIRT2_HUMAN	Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA.	63					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	NAD+ binding|NAD-dependent histone deacetylase activity|histone acetyltransferase binding|histone deacetylase binding|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			CCCCTTCCAAGGTCAGCTCGTC	0.614000														28			13		0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917478	26917478	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:26917478G>A	uc001wqa.3	-	5	1631	c.845C>T	c.(844-846)cCc>cTc	p.P282L	NOVA1_uc001wpy.3_Missense_Mutation_p.P404L|NOVA1_uc001wpz.3_Missense_Mutation_p.P380L	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	407	Ala-rich.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GGCAGCTAGGGGAGAAGCAGC	0.502000														52			20		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289148	107289148	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107289148G>A	uc011lvn.2	-	0	343	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATCATGCCAAGGAGGAAACAT	0.438000														123			68		0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87912231	87912231	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87912231G>A	uc022agz.1	-	3	932	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	STEAP4_uc003ujs.3_Missense_Mutation_p.R237C|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	237					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ATAGCCATACGAAATGTATTA	0.363000														99			31		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069208	6069208	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:6069208G>A	uc010ndi.3	-	1	764	c.300C>T	c.(298-300)atC>atT	p.I100I	NLGN4X_uc004crp.3_Silent_p.I100I|NLGN4X_uc010ndh.3_Silent_p.I100I|NLGN4X_uc004crq.3_Silent_p.I100I|NLGN4X_uc004crr.3_Silent_p.I100I|NLGN4X_uc010ndj.3_Silent_p.I100I	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	100					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.G99G(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TAGTATTTCGGATGCCAGTCC	0.572000														48			24		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10312885	10312885	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10312885G>A	uc002gmm.2	-	15	1703	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	536	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTCTTCCAGGATGGAGAAGA	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					55			29		0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71465309	71465309	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71465309C>T	uc003hfl.3	+	4	341	c.240C>T	c.(238-240)ctC>ctT	p.L80L		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	80					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			ACGGTCTCCTCCCACCACATT	0.373000														61			24		0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103339317	103339317	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:103339317G>A	uc001vpj.3	-	2	379	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F		NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	Homo sapiens methyltransferase like 21C (METTL21C), mRNA.	125							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						ATGGAAACAAGGCCTGGTCCG	0.388000														64			18		0	0	1	0	0
SPRED1	161742	broad.mit.edu	37	15	38591722	38591722	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:38591722C>T	uc001zka.4	+	1	516	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 1 (SPRED1), mRNA.	61	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CTTTTTTATCCGTGGAGAGCG	0.383000									Legius syndrome					65			25		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124325875	124325875	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124325875G>A	uc001uft.4	+	28	4814	c.4789G>A	c.(4789-4791)Gac>Aac	p.D1597N		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1597	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCAGATGTACGACAACATAGC	0.512000														179			22		0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089886	43089886	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:43089886G>A	uc003bdb.3	-	2	333	c.72C>T	c.(70-72)ttC>ttT	p.F24F	A4GALT_uc021wqo.1_Silent_p.F24F|A4GALT_uc021wqp.1_Silent_p.F24F|A4GALT_uc010gzd.3_Silent_p.F24F|A4GALT_uc021wqq.1_Silent_p.F24F	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	24					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						AGCCGATGATGAACAGGGTGC	0.597000														18			10		0	0	1	0	0
IQCF1	132141	broad.mit.edu	37	3	51937085	51937085	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:51937085C>T	uc003dbv.3	-	1	122	c.24G>A	c.(22-24)aaG>aaA	p.K8K	IQCF1_uc003dbq.4_Non-coding_Transcript	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	8										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTTCCTTCGTCTTTTGGGGCT	0.537000														294			104		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170177374	170177374	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:170177374G>A	uc002ues.3	-	1	313	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	LRP2_uc010zdf.1_Missense_Mutation_p.R34C	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	34	LDL-receptor class A 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTCCACAGCGAAAATGCGCA	0.413000														56			36		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188507	140188507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140188507G>A	uc003lhi.2	+	0	1836	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.E579K|PCDHAC2_uc011daa.2_Missense_Mutation_p.E579K	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	592	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGTGAGCGAGCTGGTGCC	0.662000														75			19		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87175226	87175226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87175226C>T	uc003uiz.2	-	15	2333	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	ABCB1_uc011khc.2_Missense_Mutation_p.E550K	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	614	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)	TTCATGAGTTCATCATGATTT	0.383000														90			29		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35648033	35648033	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:35648033C>T	uc003xjr.2	+	16	3142	c.2814C>T	c.(2812-2814)tcC>tcT	p.S938S	UNC5D_uc003xjs.2_Silent_p.S933S|UNC5D_uc003xju.2_Silent_p.S514S|UNC5D_uc022atw.1_5'Flank	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	938					apoptosis|axon guidance	integral to membrane	receptor activity	p.A938D(1)|p.A938A(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTTCAGAATCCCAGCTTGATG	0.502000														50			20		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94671197	94671197	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94671197C>T	uc001dqj.4	-	5	922	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.E185K	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	185					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTACCTTTTTCACTGGATGAG	0.323000														98			38		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109690130	109690130	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:109690130C>T	uc004bcz.3	+	2	4226	c.3937C>T	c.(3937-3939)Cac>Tac	p.H1313Y	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.H1161Y|ZNF462_uc004bda.3_Missense_Mutation_p.H1161Y	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1313					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGCTGGCTACCACTGCGAGTG	0.517000														141			14		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734303	92734303	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92734303C>A	uc003umf.3	-	2	1378	c.1108G>T	c.(1108-1110)Gca>Tca	p.A370S	SAMD9_uc003umg.3_Missense_Mutation_p.A370S|SAMD9_uc022ahg.1_Missense_Mutation_p.A370S	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	370						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)			CTGGACTCTGCCAGTGTTTTA	0.338000														63			12		2.80697e-09	2.8165e-09	1	1	0
SALL3	27164	broad.mit.edu	37	18	76757169	76757169	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:76757169C>T	uc002lmt.3	+	2	3750	c.3750C>T	c.(3748-3750)ctC>ctT	p.L1250L	SALL3_uc010dra.3_Silent_p.L785L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCAGCGCCCTCCCCCCTCTGG	0.622000														150			54		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28493824	28493824	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28493824C>T	uc003nll.2	+	0	36	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	GPX5_uc003nlm.2_Missense_Mutation_p.P12S|GPX5_uc003nln.2_5'Flank	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	12					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCATCTGCTTCCCCTTCTCCT	0.498000														168			79		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73567144	73567144	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73567144C>T	uc002joh.3	+	16	2293	c.2139C>T	c.(2137-2139)gtC>gtT	p.V713V	LLGL2_uc002joi.3_Silent_p.V713V|LLGL2_uc010dgg.2_Silent_p.V713V|LLGL2_uc002joj.3_Silent_p.V702V|LLGL2_uc010wsd.2_Silent_p.V340V	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	713					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGGCTTCGTCCGGACCCTGT	0.652000														119			51		0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100451917	100451918	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:100451917_100451918GA>AT	uc001tgq.3	-	13	3366_3367	c.3137_3138TC>AT	c.(3136-3138)atc>aAT	p.I1046N	UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.I696N	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	1046										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CAGCTTTAAAGATGGACTCTAT	0.356000														81			30		0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1808329	1808329	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:1808329C>T	uc003gdr.3	+	15	2343	c.2087C>T	c.(2086-2088)cCc>cTc	p.P696L	FGFR3_uc003gdu.2_Missense_Mutation_p.P698L|FGFR3_uc003gds.3_Missense_Mutation_p.P584L|FGFR3_uc003gdq.3_Silent_p.P673P	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	696	Protein kinase.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TCCCCGTACCCCGGCATCCCT	0.647000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					47			13		0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24628466	24628466	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:24628466C>T	uc002kwd.3	-	2	351	c.122_splice	c.e2-1	p.G41_splice	CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Splice_Site_p.G41_splice|CHST9_uc021uij.1_Splice_Site	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	41					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TCTCCACTCTCCCTGAAATGA	0.358000														60			18		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130736	45130736	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:45130736G>A	uc002xsa.3	-	3	1773	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	ZNF334_uc002xsb.3_Silent_p.F376F|ZNF334_uc002xsd.3_Silent_p.F376F|ZNF334_uc002xsc.3_Silent_p.F414F|ZNF334_uc010ghl.3_Silent_p.F413F			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATTGACAAAAGAAGGTTTTCT	0.423000														168			18		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113078	59113078	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:59113078G>A	uc001xdw.3	+	3	1901	c.1737G>A	c.(1735-1737)gtG>gtA	p.V579V	DACT1_uc010trv.2_Silent_p.V298V|DACT1_uc001xdx.3_Silent_p.V542V|DACT1_uc010trw.2_Silent_p.V298V	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	579					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus		p.V578I(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGGGCGTCGTGAAGAACTCCA	0.662000														26			9		0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17539531	17539531	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:17539531C>T	uc003ncb.3	+	7	911	c.668C>T	c.(667-669)tCt>tTt	p.S223F	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.S197F|CAP2_uc011djb.2_Missense_Mutation_p.S159F|CAP2_uc011djc.2_Missense_Mutation_p.S111F|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	223					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TCAGCGTTTTCTGTCCTCTCC	0.552000														145			77		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10914373	10914373	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:10914373C>T	uc002yip.1	-	20	1714	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.G431E|TPTE_uc002yir.1_Missense_Mutation_p.G411E|TPTE_uc010gkv.1_Missense_Mutation_p.G311E	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	449	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		CGAACATTTTCCTAATGAAAT	0.318000														55			6		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239162337	239162337	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:239162337G>A	uc002vyc.3	-	18	2564	c.2327C>T	c.(2326-2328)cCt>cTt	p.P776L	PER2_uc010znv.1_Missense_Mutation_p.P776L	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	776					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCTTAGTCCAGGGGCAGCTAA	0.413000														12			10		0	0	1	0	0
SULT4A1	25830	broad.mit.edu	37	22	44235853	44235853	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:44235853G>A	uc003bee.1	-	2	469	c.353C>T	c.(352-354)cCc>cTc	p.P118L	SULT4A1_uc003bed.1_Missense_Mutation_p.P39L|SULT4A1_uc003bef.1_Non-coding_Transcript|SULT4A1_uc011aqb.1_Intron	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	Homo sapiens sulfotransferase family 4A, member 1 (SULT4A1), mRNA.	118					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		GAGGTCAGAGGGCAGAAAGCG	0.597000														12			5		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71265027	71265027	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71265027C>T	uc003hfi.3	+	1	199	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	9					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CTTCTTGGGCCTGTTGGCTCT	0.318000														46			4		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48391896	48391896	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48391896G>A	uc003toq.2	+	30	10524	c.10500G>A	c.(10498-10500)gtG>gtA	p.V3500V	ABCA13_uc010kys.1_Silent_p.V574V|ABCA13_uc003tos.1_Silent_p.V326V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3500					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAACAGATGTGGTAAAAAACC	0.453000														61			31		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124358351	124358351	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124358351G>A	uc001lgk.1	+	25	3124	c.3018G>A	c.(3016-3018)gtG>gtA	p.V1006V	DMBT1_uc001lgl.1_Silent_p.V996V|DMBT1_uc001lgm.1_Silent_p.V507V|DMBT1_uc021qaf.1_Silent_p.V1006V|DMBT1_uc021qag.1_Silent_p.V996V|DMBT1_uc021qah.1_Silent_p.V507V|DMBT1_uc009xzz.1_Silent_p.V1006V|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1006	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGGGCCGAGTGGAGGTCCTAT	0.572000														450			141		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43522383	43522383	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43522383C>T	uc002zag.1	+	7	1294	c.1294C>T	c.(1294-1296)Cac>Tac	p.H432Y	UMODL1_uc002zad.1_Missense_Mutation_p.H360Y|UMODL1_uc002zae.1_Missense_Mutation_p.H360Y|UMODL1_uc002zaf.1_Missense_Mutation_p.H432Y|UMODL1_uc010gow.1_Missense_Mutation_p.H224Y|UMODL1_uc002zai.1_Missense_Mutation_p.H83Y|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.H83Y|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.H177Y|C21orf128_uc002zak.2_3'UTR	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	432	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACAACTGCTTCACGAGGTAAA	0.458000														58			19		0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840893	142840893	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:142840893C>T	uc003evm.3	+	1	2174	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	CHST2_uc021xex.1_Missense_Mutation_p.P412L	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	412					N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GCCCTGCAGCCCCCTGACTGG	0.617000														49			28		0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55525834	55525834	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:55525834C>T	uc002ehz.4	+	7	1613	c.1302C>T	c.(1300-1302)tcC>tcT	p.S434S	MMP2_uc010vhd.2_Silent_p.S358S|MMP2_uc010ccc.3_Silent_p.S384S	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	434	Collagenase-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TCCGTCTGTCCCAGGATGACA	0.617000														31			13		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70635015	70635015	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70635015C>T	uc001xly.3	-	1	879	c.125G>A	c.(124-126)gGg>gAg	p.G42E	SLC8A3_uc001xlw.3_Missense_Mutation_p.G42E|SLC8A3_uc001xlx.3_Missense_Mutation_p.G42E|SLC8A3_uc001xlz.3_Missense_Mutation_p.G42E|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	42					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATTGTTCTGCCCTGTGCTTGG	0.567000														42			13		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153655048	153655048	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153655048G>A	uc001fcs.4	+	4	1667	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	NPR1_uc010pdz.2_Missense_Mutation_p.E162K|NPR1_uc010pea.2_5'Flank	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	416					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TATGGATCCCGAGAATGGTGC	0.527000														49			13		0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89888625	89888625	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:89888625G>A	uc003pna.2	-	9	1759	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	GABRR1_uc011dzv.1_Missense_Mutation_p.S412F	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	435					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	CCTCTGTGGGGAGCTCCTCTC	0.512000														66			44		0	0	1	0	0
RGS14	10636	broad.mit.edu	37	5	176798513	176798513	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176798513C>T	uc003mgh.3	+	13	1606	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L	RGS14_uc003mgf.3_Missense_Mutation_p.P474L|RGS14_uc003mgi.3_Missense_Mutation_p.P245L	NM_006480	NP_006471	O43566	RGS14_HUMAN	Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.	474					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	PML body|cell junction|centrosome|dendritic spine|microtubule|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCACCCATCCCCCTCCAGCG	0.597000														214			42		0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97527334	97527334	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:97527334G>A	uc002sxg.4	-	11	2044	c.1813C>T	c.(1813-1815)Ctc>Ttc	p.L605F	SEMA4C_uc002sxf.4_Missense_Mutation_p.L52F|SEMA4C_uc002sxe.3_Missense_Mutation_p.L52F|SEMA4C_uc002sxh.4_Missense_Mutation_p.L552F	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	552	Ig-like C2-type.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	p.Y605C(1)		NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CTGCCACGGAGGTTGCAGATG	0.562000														130			28		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140953626	140953626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140953626C>T	uc004cog.3	+	29	4714	c.4569C>T	c.(4567-4569)atC>atT	p.I1523I	CACNA1B_uc022bqn.1_Silent_p.I1523I|CACNA1B_uc011mfd.2_Silent_p.I1124I|CACNA1B_uc004coi.3_Silent_p.I737I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1523					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGAAGATCATCGCCTTTGGGG	0.502000														12			4		0	0	1	0	0
KBTBD13	390594	broad.mit.edu	37	15	65370431	65370431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65370431G>A	uc010uis.2	+	0	1278	c.1278G>A	c.(1276-1278)gaG>gaA	p.E426E	RASL12_uc010uir.1_5'Flank	NM_001101362	NP_001094832	C9JR72	KBTBD_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 13 (KBTBD13), mRNA.	426						cytoplasm				lung(1)|prostate(1)|skin(1)	3						TGCTCAGGGAGAAAGCCGGCT	0.647000														16			5		0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6262879	6262879	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6262879G>A	uc001mco.3	+	4	1251	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	CNGA4_uc010raa.2_Missense_Mutation_p.G148E|CNGA4_uc001mcn.3_Missense_Mutation_p.G339E	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	379					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCGCAAAGGAGACATTGGC	0.552000														205			54		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52129363	52129363	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52129363C>T	uc002pxe.3	-	7	1525	c.1386G>A	c.(1384-1386)gtG>gtA	p.V462V		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	462					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGCGGGCTTTCACTCTAAGGA	0.522000														72			9		0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24689299	24689299	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:24689299G>A	uc003swx.3	+	4	638	c.339G>A	c.(337-339)atG>atA	p.M113I	MPP6_uc003swy.3_Missense_Mutation_p.M113I	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	113					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GCCCAGAAATGAATAATTCTT	0.383000														84			24		0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41819639	41819639	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:41819639G>A	uc001zod.3	-	11	1717	c.1593C>T	c.(1591-1593)gcC>gcT	p.A531A		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	531						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CATCATGTCGGGCCAGGTCAG	0.552000														75			21		0	0	1	0	0
GCA	25801	broad.mit.edu	37	2	163213409	163213409	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:163213409C>T	uc002ucg.3	+	4	624	c.448C>T	c.(448-450)Ctt>Ttt	p.L150F		NM_012198	NP_036330	P28676	GRAN_HUMAN	Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA.	150	EF-hand 3.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						AGCCATTGGTCTTATGGGTAA	0.363000														96			6		0	0	1	0	0
SNORD116-1	100033413	broad.mit.edu	37	15	25296628	25296628	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:25296628C>T	uc001yxg.3	+	0		c.6C>T								Homo sapiens small nucleolar RNA, C/D box 116-1 (SNORD116-1), small nucleolar RNA.																		GTGCTTGGATCGATGATGAGT	0.473000														126			53		0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8115917	8115917	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:8115917G>A	uc001ijz.3	+	5	1823	c.1266G>A	c.(1264-1266)ccG>ccA	p.P422P	GATA3_uc001ika.3_Silent_p.P421P	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	421					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding	p.P422P(2)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CGCCCACGCCGATGCACCCGC	0.647000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""							71			28		0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35044528	35044528	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35044528A>G	uc003zvw.3	+	1	1931	c.1902A>G	c.(1900-1902)gaA>gaG	p.E634E	C9orf131_uc003zvu.3_Silent_p.E586E|C9orf131_uc003zvv.3_Silent_p.E561E|C9orf131_uc003zvx.3_Silent_p.E599E	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	634										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCAAAAAGAAAACTGTGTTC	0.498000														162			23		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129276019	129276019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:129276019G>A	uc003emx.2	-	33	5593	c.5493C>T	c.(5491-5493)taC>taT	p.Y1831Y	PLXND1_uc003emw.2_5'UTR|PLXND1_uc011blb.1_Silent_p.Y500Y	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1831					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CGATCTTCCGGTACTCAGGAA	0.572000														72			29		0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42647492	42647492	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:42647492C>T	uc002yyw.3	+	8	1961	c.1498C>T	c.(1498-1500)Ccc>Tcc	p.P500S	BACE2_uc002yyx.3_Missense_Mutation_p.P450S|BACE2_uc002yyy.3_3'UTR|BACE2_uc010goo.3_Non-coding_Transcript	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA.	500					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TCAGCGTCGCCCCCGTGACCC	0.542000														47			9		0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30948420	30948420	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:30948420C>T	uc003xio.4	+	14	2579	c.1791C>T	c.(1789-1791)ccC>ccT	p.P597P	WRN_uc010lvk.3_Silent_p.P64P	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	597	Helicase ATP-binding.				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTATCTCTCCCCTTATTTCTC	0.358000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					134			25		0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93518142	93518142	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:93518142A>T	uc002bsp.3	+	19	3114	c.2539A>T	c.(2539-2541)Aaa>Taa	p.K847*	CHD2_uc002bso.1_Nonsense_Mutation_p.K847*|CHD2_uc010bog.1_Nonsense_Mutation_p.K92*|CHD2_uc010boh.1_Nonsense_Mutation_p.K41*	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	847	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGAAATCCGAAAACAGGCACT	0.438000														90			27		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193080175	193080175	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:193080175C>T	uc011bsq.2	-	4	531	c.531G>A	c.(529-531)gaG>gaA	p.E177E		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	177					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCTACCTGACCTCTTGCTCTT	0.418000														43			19		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6955364	6955364	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:6955364G>A	uc002knm.3	-	56	8289	c.8195C>T	c.(8194-8196)gCt>gTt	p.A2732V	LAMA1_uc002knk.3_Missense_Mutation_p.A62V|LAMA1_uc002knl.3_Missense_Mutation_p.A185V|LAMA1_uc010wzj.2_Missense_Mutation_p.A2208V	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2732	Laminin G-like 4.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTTCTGACAGCCGACTGATT	0.478000														28			4		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76463724	76463724	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:76463724C>T	uc003yaq.3	+	4	613	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	HNF4G_uc003yar.3_Missense_Mutation_p.R152C	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	115					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AGTTCGGTCTCGCCAGGTACC	0.423000														34			9		0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607910	53607910	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53607910G>A	uc001scf.3	-	6	1238	c.746C>T	c.(745-747)cCt>cTt	p.P249L	RARG_uc001scd.3_Missense_Mutation_p.P238L|RARG_uc010sob.2_Missense_Mutation_p.P227L|RARG_uc001scg.3_Missense_Mutation_p.P177L|RARG_uc010soc.2_Missense_Mutation_p.P128L|RARG_uc001sce.3_Missense_Mutation_p.P249L|RARG_uc010sod.2_Missense_Mutation_p.P286L	NM_000966	NP_001230660	P13631	RARG_HUMAN	Homo sapiens retinoic acid receptor, gamma (RARG), transcript variant 1, mRNA.	249	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.P249S(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGTAAAGCCAGGCAACCGCTT	0.572000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		159			51		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99723945	99723945	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:99723945C>T	uc001yga.3	-	1	557	c.290G>A	c.(289-291)aGc>aAc	p.S97N	BCL11B_uc001ygb.3_Missense_Mutation_p.S97N	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	97						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGGTGGCGGGCTGTCCTTGTC	0.597000			T	TLX3	T-ALL									92			7		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675457	3675458	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3675457_3675458CC>TT	uc002wja.3	-	10	2796_2797	c.2796_2797GG>AA	c.(2794-2799)cgggat>cgAAat	p.D933N	SIGLEC1_uc002wiz.4_Missense_Mutation_p.D933N|SIGLEC1_uc002wjb.1_5'Flank	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	933	Ig-like C2-type 9.				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						GGCTGGCCATCCCGATACCAAC	0.614000														56			26		0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51981872	51981872	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51981872C>T	uc002pwv.1	+	1	159	c.159C>T	c.(157-159)ctC>ctT	p.L53L		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	53						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGGGACCCCTCCTCCTGGAGG	0.627000														21			4		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141526869	141526869	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141526869C>T	uc002tvj.1	-	34	6643	c.5671G>A	c.(5671-5673)Gga>Aga	p.G1891R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1891					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAGGTATTCCCCTGATTCCT	0.408000										TSP Lung(27;0.18)				84			16		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78369177	78369177	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:78369177C>T	uc001ozl.4	-	33	8699	c.8236G>A	c.(8236-8238)Gag>Aag	p.E2746K	ODZ4_uc001ozk.4_Missense_Mutation_p.E971K	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2746					signal transduction	integral to membrane		p.E2746*(3)		breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GGGTACTGCTCGACAGAGATC	0.597000														210			85		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117278829	117278829	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:117278829C>T	uc001lcg.3	+	24	4097	c.3711C>T	c.(3709-3711)ttC>ttT	p.F1237F	ATRNL1_uc010qsm.2_Silent_p.F366F|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1237						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTGTCACCTTCTTCAGGTAAA	0.323000														36			9		0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	182994669	182994669	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:182994669G>A	uc003fli.1	-	14	1943	c.1853C>T	c.(1852-1854)tCc>tTc	p.S618F	MCF2L2_uc003flj.1_Missense_Mutation_p.S618F|MCF2L2_uc011bqr.1_Non-coding_Transcript	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	618					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.S618F(2)|p.S618S(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCTGCGGGGGGAAAGGTCTCC	0.557000														15			8		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2298088	2298088	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:2298088G>A	uc002wfx.4	+	6	1037	c.940G>A	c.(940-942)Gac>Aac	p.D314N		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	314					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGTGTACTACGACCCCATGGG	0.517000														151			54		0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69334630	69334630	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69334630G>A	uc003hdz.4	+	3	356	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	98	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.R97M(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TCCATTAAGGGAAGAATTTGT	0.294000														192			37		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179489358	179489358	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179489358C>T	uc021vsy.1	-	190	37170	c.36945G>A	c.(36943-36945)gtG>gtA	p.V12315V	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.V6010V|TTN_uc021vta.1_Silent_p.V5943V|TTN_uc021vtb.1_Silent_p.V5818V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13242	Ig-like 82.						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)			TGAACCATTTCACCTTAGCAT	0.458000														58			24		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40790001	40790001	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:40790001C>T	uc002xkg.3	-	16	2857	c.2673G>A	c.(2671-2673)gaG>gaA	p.E891E	PTPRT_uc010ggj.3_Silent_p.E910E|PTPRT_uc010ggi.3_Silent_p.E94E	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	891	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTCGTATTCCTCCTTGAACC	0.552000														61			30		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2026852	2026852	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2026852G>A	uc003wpx.4	+	11	1438	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	434	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCAGTGCAATGATGCACCGGT	0.428000														179			45		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45518302	45518302	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45518302C>T	uc002zea.3	+	20	3402	c.3233C>T	c.(3232-3234)tCc>tTc	p.S1078F	TRAPPC10_uc010gpo.3_Missense_Mutation_p.S789F|TRAPPC10_uc011afa.2_Missense_Mutation_p.S456F|TRAPPC10_uc011afb.1_Missense_Mutation_p.S183F	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	1078					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGAACAGGCTCCCTCTGCTCC	0.473000														159			56		0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967526	142967526	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:142967526G>A	uc004fca.3	+	0	354	c.324G>A	c.(322-324)tcG>tcA	p.S108S		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	108							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)					TTCTGCTATCGATCCAGGCCT	0.423000														47			70		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231889	7231889	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:7231889C>T	uc010wzk.2	+	0	753	c.753C>T	c.(751-753)ctC>ctT	p.L251L		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	251								p.E250K(1)|p.L251H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CGAGCGAACTCCACCTGCTGT	0.572000														97			40		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37044568	37044568	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:37044568C>T	uc003jkl.4	+	34	6727	c.6228C>T	c.(6226-6228)ctC>ctT	p.L2076L	NIPBL_uc003jkk.4_Silent_p.L2076L	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2076					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TAATGAAGCTCATCATCAAAT	0.318000														79			7		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93148206	93148206	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:93148206C>T	uc001pdq.3	+	12	1664	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S	CCDC67_uc001pdo.1_Missense_Mutation_p.P522S	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	522										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TACAATGCCTCCCTTGCCACC	0.408000														81			19		0	0	1	0	0
OR2T5	401993	broad.mit.edu	37	1	248651978	248651978	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248651978T>C	uc001iem.1	+	0	89	c.89T>C	c.(88-90)cTa>cCa	p.L30P		NM_001004697	NP_001004697	Q6IEZ7	OR2T5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 5 (OR2T5), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A29S(1)|p.L30I(1)		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)			CATCCAGCTCTACTTAGTGTG	0.502000														183			10		0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89651233	89651233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89651233G>A	uc002fnp.3	+	6	914	c.784G>A	c.(784-786)Gac>Aac	p.D262N	CPNE7_uc002fnq.3_Missense_Mutation_p.D187N	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	262	C2 2.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GGTCAACGACGACCAGGGCTT	0.657000														28			6		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209799047	209799047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:209799047G>A	uc001hhg.3	-	12	2312	c.1922C>T	c.(1921-1923)cCc>cTc	p.P641L	LAMB3_uc009xco.3_Missense_Mutation_p.P641L|LAMB3_uc001hhh.3_Missense_Mutation_p.P641L|LAMB3_uc010psl.1_Intron|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	641	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.S640T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGTGACTGCGGGGCTGCTGAG	0.587000														85			32		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652070	121652070	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:121652070C>T	uc003vjy.3	+	11	3365	c.2970C>T	c.(2968-2970)ctC>ctT	p.L990L	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	990					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTCATGCCCTCTCTGGTGATG	0.458000														129			59		0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35086057	35086057	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:35086057C>T	uc003okd.2	-	9	1721	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	TCP11_uc003ojz.1_Missense_Mutation_p.E439K|TCP11_uc003oka.2_Missense_Mutation_p.E439K|TCP11_uc003okb.2_Missense_Mutation_p.E438K|TCP11_uc011dsu.1_Missense_Mutation_p.E496K|TCP11_uc003okc.2_Missense_Mutation_p.E438K|TCP11_uc011dsv.1_Missense_Mutation_p.E463K|TCP11_uc011dsw.1_Missense_Mutation_p.E468K	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	501					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CAAACAGACTCCACTTTTGTT	0.512000														109			11		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57950064	57950064	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:57950064C>T	uc002emt.2	-	21	2251	c.2186G>A	c.(2185-2187)cGa>cAa	p.R729Q	CNGB1_uc010cdh.2_Missense_Mutation_p.R723Q	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	729					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GTAGTTATTTCGCATGTCCTT	0.517000														93			41		0	0	1	0	0
IL13	3596	broad.mit.edu	37	5	131995155	131995155	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:131995155G>A	uc003kxj.1	+	1	234	c.220G>A	c.(220-222)Gct>Act	p.A74T		NM_002188	NP_002179	P35225	IL13_HUMAN	Homo sapiens interleukin 13 (IL13), mRNA.	74					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAACCTGACAGCTGGCATGGT	0.602000														17			3		0	0	1	0	0
TMEM213	155006	broad.mit.edu	37	7	138487709	138487709	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:138487709C>T	uc010lna.3	+	2	330	c.219C>T	c.(217-219)atC>atT	p.I73I	TMEM213_uc010lnb.3_Silent_p.I72I	NM_001085429	NP_001078898	A2RRL7	TM213_HUMAN	Homo sapiens transmembrane protein 213 (TMEM213), mRNA.	73						integral to membrane		p.I73I(3)		breast(1)|endometrium(3)|kidney(1)|lung(1)	6						ACGGCTGGATCGCGGCAGCTG	0.607000														34			9		0	0	1	0	0
WFDC2	10406	broad.mit.edu	37	20	44108734	44108734	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44108734G>A	uc002xoo.3	+	3	404	c.376_splice	c.e3+1		WFDC2_uc002xoq.3_Splice_Site|WFDC2_uc002xop.3_Splice_Site|WFDC2_uc002xor.3_Splice_Site	NM_006103	NP_006094	Q14508	WFDC2_HUMAN	Homo sapiens WAP four-disulfide core domain 2 (WFDC2), mRNA.						proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				CAATTTCTGAGGTAAGTGAAC	0.557000														92			24		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389848	77389848	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:77389848C>T	uc002ffc.4	-	8	1868	c.1449G>A	c.(1447-1449)aaG>aaA	p.K483K	ADAMTS18_uc010chc.1_Silent_p.K71K|ADAMTS18_uc002ffe.1_Silent_p.K179K|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.	483	Peptidase M12B.				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						TGAGGAATTTCTTGAGATACT	0.478000														105			10		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922012	24922012	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24922012C>T	uc001ywo.3	+	0	1472	c.998C>T	c.(997-999)cCa>cTa	p.P333L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	333	Pro-rich.				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)		ATGTCGATTCCATTGCTGCTG	0.577000														37			25		0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89847259	89847259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:89847259G>A	uc001dnf.2	+	6	1152	c.878G>A	c.(877-879)gGa>gAa	p.G293E	GBP6_uc010ost.1_Missense_Mutation_p.G163E	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	293							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TTAGGTCTGGGAACTCTGGCA	0.483000														97			35		0	0	1	0	0
S1PR3	1903	broad.mit.edu	37	9	91616901	91616901	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:91616901C>T	uc022bjm.1	+	0	786	c.786C>T	c.(784-786)ctC>ctT	p.L262L	S1PR3_uc004aqe.3_Silent_p.L262L	NM_005226	NP_005217	Q99500	S1PR3_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA.	262					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TCTTCATCCTCTTCCTCATTG	0.597000														29			22		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100796698	100796699	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:100796698_100796699CC>TT	uc003yiv.3	+	42	8121_8122	c.8010_8011CC>TT	c.(8008-8013)tcccca>tcTTca	p.P2671S	VPS13B_uc003yiw.3_Missense_Mutation_p.P2646S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2671					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)			CTCACAAATCCCCACAGGTATT	0.470000														105			25		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227429	39227430	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:39227429_39227430CC>TT	uc003cjk.2	-	1	3736_3737	c.3507_3508GG>AA	c.(3505-3510)agggag>agAAag	p.E1170K	XIRP1_uc003cji.3_Intron|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.E1170K	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1170							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)		AGGGCAGTCTCCCTGTGCCTTG	0.639000														29			12		0	0	1	0	0
NRBP1	29959	broad.mit.edu	37	2	27656267	27656267	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27656267C>T	uc002rko.3	+	2	959	c.127C>T	c.(127-129)Cca>Tca	p.P43S	NRBP1_uc002rkp.3_Missense_Mutation_p.P43S|NRBP1_uc002rkr.3_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	Homo sapiens nuclear receptor binding protein 1 (NRBP1), mRNA.	43					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					AGCTGCTTCCCCAGAGGAAGA	0.522000														80			13		0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17322773	17322773	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17322773C>T	uc010eak.3	+	39	6280	c.6128C>T	c.(6127-6129)cCt>cTt	p.P2043L	MYO9B_uc002nfi.3_3'UTR|MYO9B_uc002nfm.1_3'UTR	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	2043	Tail.			TVAAPP -> PWPPLH (in Ref. 3; AAC26597).	actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GTGGCCGCCCCTCCACGACGA	0.692000														8			7		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52159647	52159647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52159647G>A	uc001ryw.3	+	15	2915	c.2737G>A	c.(2737-2739)Gaa>Aaa	p.E913K	SCN8A_uc010snl.2_Missense_Mutation_p.E913K|SCN8A_uc001ryy.2_Missense_Mutation_p.E778K	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	913					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCAGGACTGTGAACTCCCTCG	0.488000														115			66		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158608031	158608031	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158608031C>T	uc001fst.1	-	36	5180	c.4981_splice	c.e36-1	p.D1661_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1661					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGAGTGCATCCTAGAAAGTC	0.433000														22			8		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169842736	169842736	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169842736C>T	uc002ueo.1	-	9	1093	c.967G>A	c.(967-969)Gga>Aga	p.G323R		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	323	ABC transmembrane type-1 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GTAAAGAATCCCATCACTATT	0.443000														112			12		0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608361	4608361	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4608361G>A	uc010qyh.2	+	0	341	c.319G>A	c.(319-321)Gtg>Atg	p.V107M		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCTCCTCGGTGGTACCCAA	0.488000														269			30		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159650906	159650906	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:159650906C>T	uc010kjv.3	+	9	1440	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	FNDC1_uc010kjw.1_Intron	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	414	Fibronectin type-III 4.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCTCACCTATCCTGGAGACAC	0.507000														232			29		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57411647	57411647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57411647G>A	uc001cyp.3	-	6	1019	c.952C>T	c.(952-954)Ctt>Ttt	p.L318F	C8B_uc010oon.2_Missense_Mutation_p.L256F|C8B_uc010ooo.2_Missense_Mutation_p.L266F	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	318	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACTCTCTGAAGGAACTCGTAA	0.483000														50			25		0	0	1	0	0
CMBL	134147	broad.mit.edu	37	5	10290816	10290816	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:10290816C>T	uc003jes.3	-	1	510	c.59G>A	c.(58-60)gGg>gAg	p.G20E		NM_138809	NP_620164	Q96DG6	CMBL_HUMAN	Homo sapiens carboxymethylenebutenolidase homolog (Pseudomonas) (CMBL), mRNA.	20						cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						ACGGCCTAGCCCTCCATACTC	0.473000														151			10		0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35802840	35802840	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35802840C>T	uc002nyy.2	+	9	1834	c.1636C>T	c.(1636-1638)Ccc>Tcc	p.P546S	MAG_uc002nyx.2_Missense_Mutation_p.P546S|MAG_uc010eds.2_Missense_Mutation_p.P521S|MAG_uc002nyz.2_Missense_Mutation_p.P546S	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	546					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.S545R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GACAGAGAGCCCCAGCTTCTC	0.607000														18			6		0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776262	5776262	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5776262G>A	uc001mbu.3	+	0	340	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TGGATTTGATGAATGCCTTGT	0.488000														78			25		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039962	31039962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:31039962C>T	uc002nsu.1	+	3	3574	c.3436C>T	c.(3436-3438)Ccc>Tcc	p.P1146S	ZNF536_uc010edd.1_Missense_Mutation_p.P1146S	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGAGGATGTCCCCATCCTGAT	0.552000														71			20		0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35551337	35551337	+	Missense_Mutation	SNP	C	T	T	rs147075058	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35551337C>T	uc002nxq.2	+	8	786	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	HPN_uc002nxr.2_Missense_Mutation_p.R181C|HPN_uc010xsh.1_Missense_Mutation_p.R150C|HPN_uc002nxt.1_Missense_Mutation_p.R65C|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	181	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	AGTCAGCCTTCGCTATGATGG	0.682000														91			52		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29848108	29848108	+	Missense_Mutation	SNP	G	A	A	rs139726967		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29848108G>A	uc002kxl.3	-	5	2413	c.2357C>T	c.(2356-2358)cCg>cTg	p.P786L	FAM59A_uc002kxk.2_Missense_Mutation_p.P785L	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	786								p.P785L(2)		endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						GAGATGGAGCGGAGATGAGAA	0.547000														34			20		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200965372	200965372	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:200965372C>T	uc001gvs.2	-	14	2546	c.2229G>A	c.(2227-2229)agG>agA	p.R743R	KIF21B_uc009wzl.2_Silent_p.R743R|KIF21B_uc001gvr.2_Silent_p.R743R|KIF21B_uc010ppn.2_Silent_p.R743R	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	743					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCTTCAGCTCCCTCTCGTAGC	0.612000														204			74		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11300809	11300809	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:11300809C>T	uc010hdr.3	+	1	428	c.86C>T	c.(85-87)cCc>cTc	p.P29L	HRH1_uc010hds.3_Missense_Mutation_p.P29L|HRH1_uc010hdt.3_Missense_Mutation_p.P29L|HRH1_uc003bwb.4_Missense_Mutation_p.P29L|HRH1_uc021wtb.1_Missense_Mutation_p.P29L	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	29					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CAGCTGATGCCCCTGGTGGTG	0.587000														31			13		0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99007635	99007635	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:99007635G>A	uc001tfv.3	-	2	891	c.781C>T	c.(781-783)Cta>Tta	p.L261L	IKBIP_uc001tfw.3_3'UTR	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN	Homo sapiens IKBKB interacting protein (IKBIP), transcript variant 2, mRNA.	261					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	p.D261N(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TCTAAGCTTAGAAATCTATCT	0.373000														97			24		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32595859	32595859	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:32595859G>A	uc002yow.1	-	8	2330	c.1858C>T	c.(1858-1860)Cgt>Tgt	p.R620C	TIAM1_uc011adk.1_Missense_Mutation_p.R620C|TIAM1_uc011adl.1_Missense_Mutation_p.R620C|TIAM1_uc002yox.1_Missense_Mutation_p.R228C	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	620					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CAGCGGAAACGAAACAGGTCC	0.478000														76			27		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22838343	22838343	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22838343C>T	uc001bft.2	+	11	2688	c.2177C>T	c.(2176-2178)tCa>tTa	p.S726L	ZBTB40_uc001bfu.2_Missense_Mutation_p.S726L|ZBTB40_uc009vqi.1_Missense_Mutation_p.S614L|ZBTB40_uc001bfv.1_Missense_Mutation_p.S355L	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	726					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAAGAGGCTTCAGCCTCCCCA	0.527000														43			13		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43214476	43214476	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43214476C>T	uc003ouq.1	+	1	357	c.78C>T	c.(76-78)gcC>gcT	p.A26A		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	26						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TCCTGCCGGCCAACTACGTGG	0.642000														34			13		0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154533920	154533920	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:154533920G>A	uc021zhc.1	-	18	2409	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F	OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpv.3_Missense_Mutation_p.S44F|CNKSR3_uc003qpw.3_Missense_Mutation_p.S174F|CNKSR3_uc003qpx.3_Missense_Mutation_p.S173F|CNKSR3_uc010kjh.3_Missense_Mutation_p.S174F|CNKSR3_uc021zhd.1_Missense_Mutation_p.S218F|CNKSR3_uc021zhe.1_Missense_Mutation_p.S148F	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	323					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CTGAGTCTGGGAAGCGTGAGG	0.413000														28			15		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24835007	24835007	+	Silent	SNP	G	A	A	rs78374720		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:24835007G>A	uc001iru.4	+	20	5989	c.5586G>A	c.(5584-5586)ttG>ttA	p.L1862L	KIAA1217_uc001irs.3_Silent_p.L1183L|KIAA1217_uc001irt.4_Silent_p.L1228L|KIAA1217_uc010qcy.2_Silent_p.L1293L|KIAA1217_uc010qcz.2_Silent_p.L1268L|KIAA1217_uc001irw.3_3'UTR|KIAA1217_uc001irz.3_3'UTR|KIAA1217_uc001irx.3_3'UTR|KIAA1217_uc001iry.3_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1862	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATGGCTCTTTGAAGTTTCAGA	0.502000														113			52		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26695003	26695003	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:26695003C>T	uc001mra.2	-	13	1966	c.1653G>A	c.(1651-1653)aaG>aaA	p.K551K	SLC5A12_uc001mrb.2_Non-coding_Transcript	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	551					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TTTTGTACTTCTTAGACCAAA	0.388000														143			54		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32037621	32037621	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32037621C>T	uc003nzl.2	-	14	5498	c.5296G>A	c.(5296-5298)Gat>Aat	p.D1766N		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1848	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCAGTATCATCCATAGCACTC	0.602000														27			9		0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66479210	66479210	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:66479210C>T	uc003juy.2	-	2	1609	c.1461G>A	c.(1459-1461)acG>acA	p.T487T		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	487					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGTTGGTCTTCGTGATAGTCC	0.483000														53			22		0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132016264	132016264	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:132016264C>T	uc010sci.2	+	2	587	c.256C>T	c.(256-258)Cct>Tct	p.P86S	NTM_uc001qgm.3_Missense_Mutation_p.P86S|NTM_uc010sch.2_Missense_Mutation_p.P77S|NTM_uc010scj.2_Missense_Mutation_p.P45S|NTM_uc001qgo.3_Missense_Mutation_p.P86S|NTM_uc001qgq.3_Missense_Mutation_p.P86S|NTM_uc001qgp.3_Missense_Mutation_p.P86S	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	86	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GTGCCTGGATCCTCGCGTGGT	0.572000														57			21		0	0	1	0	0
AK024141	0	broad.mit.edu	37	14	73079314	73079314	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:73079314G>A	uc010arh.1	-	0		c.490C>T								Homo sapiens cDNA FLJ14079 fis, clone HEMBB1002134, weakly similar to ZINC-FINGER PROTEIN NEURO-D4.																		GAAGGGAGAGGGCAGGAGGAG	0.532000														69			35		0	0	1	0	0
CCL28	56477	broad.mit.edu	37	5	43412406	43412406	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:43412406C>T	uc003jnu.3	-	0	83	c.13G>A	c.(13-15)Gga>Aga	p.G5R	CCL28_uc003jns.3_Non-coding_Transcript|CCL28_uc003jnt.3_Non-coding_Transcript|CCL28_uc021xyh.1_Missense_Mutation_p.G5R	NM_148672	NP_683513	Q9NRJ3	CCL28_HUMAN	Homo sapiens chemokine (C-C motif) ligand 28 (CCL28), mRNA.	5					chemotaxis|immune response	extracellular space	chemokine activity			kidney(3)|lung(3)|ovary(1)	7						ATGGCGAGTCCTCTCTGCTGC	0.572000														40			7		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106121904	106121904	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106121904G>A	uc001kyh.3	+	2	549	c.415G>A	c.(415-417)Gga>Aga	p.G139R		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	139										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GCAGGGGTCTGGACTGTCAAT	0.488000														26			15		0	0	1	0	0
CD274	29126	broad.mit.edu	37	9	5457416	5457416	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:5457416C>T	uc003zje.3	+	2	498	c.390C>T	c.(388-390)gtC>gtT	p.V130V	PLGRKT_uc003zjd.3_Intron|CD274_uc011lmb.2_Silent_p.V130V|CD274_uc010mhn.3_Non-coding_Transcript|CD274_uc003zjf.3_Intron	NM_014143	NP_054862	Q9NZQ7	PD1L1_HUMAN	Homo sapiens CD274 molecule (CD274), mRNA.	130					T cell costimulation|cell proliferation|cell surface receptor linked signaling pathway|immune response	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		CTGTGAAAGTCAATGGTAAGA	0.393000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									31			4		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28913995	28913995	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28913995C>T	uc002kwp.3	+	7	1047	c.835C>T	c.(835-837)Caa>Taa	p.Q279*		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	279	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)			CATAGAAATTCAAGAAAATAC	0.338000														73			23		0	0	1	0	0
ZNF655	79027	broad.mit.edu	37	7	99171107	99171107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99171107C>T	uc010lga.3	+	3	1874	c.1481C>T	c.(1480-1482)aCc>aTc	p.T494I	ZNF655_uc003urh.3_Missense_Mutation_p.T459I|ZNF655_uc010lgc.3_Missense_Mutation_p.T494I|ZNF655_uc003urj.3_Missense_Mutation_p.T459I|ZNF655_uc003urk.3_Missense_Mutation_p.T296I|ZNF655_uc010lgd.3_Missense_Mutation_p.T296I	NM_001083956	NP_001078837	Q8N720	ZN655_HUMAN	Homo sapiens zinc finger protein 655 (ZNF655), transcript variant 7, mRNA.	459					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GAAGTCCTCACCAGACAGAAA	0.403000														168			63		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433410	140433410	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140433410G>A	uc003lik.1	+	0	2432	c.2355G>A	c.(2353-2355)ggG>ggA	p.G785G		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	785					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGCCACTGGGGAGATAAAAA	0.453000														106			40		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151156369	151156369	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151156369G>A	uc011bod.2	-	5	5980	c.5980C>T	c.(5980-5982)Cac>Tac	p.H1994Y	IGSF10_uc011bob.2_Missense_Mutation_p.H21Y|IGSF10_uc011boc.2_5'UTR	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1994	Ig-like C2-type 6.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGTAGACGTGGATCCAGCTG	0.458000														43			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569978	179569978	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179569978C>T	uc021vsy.1	-	99	26020	c.25795G>A	c.(25795-25797)Gga>Aga	p.G8599R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G5260R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9526	Ig-like 68.						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)			TCAGTGATTCCATACATGCGG	0.378000														60			18		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169539934	169539934	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:169539934C>T	uc003fgb.3	+	0	225	c.225C>T	c.(223-225)gtC>gtT	p.V75V		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	75								p.R74G(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACATCAGGGTCCTCTACCTGG	0.502000														82			40		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52131148	52131148	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52131148G>A	uc002pxe.3	-	4	1075	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	312	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CGCGGCAGGTGAAGCCTCCTT	0.572000														66			33		0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167747817	167747817	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:167747817G>A	uc011bpe.1	-	9	1528	c.1184C>T	c.(1183-1185)cCt>cTt	p.P395L	GOLIM4_uc003ffe.2_Missense_Mutation_p.P395L|GOLIM4_uc011bpf.1_Missense_Mutation_p.P367L|GOLIM4_uc011bpg.1_Missense_Mutation_p.P367L	NM_014498	NP_055313	O00461	GOLI4_HUMAN	Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA.	395	Glu-rich.				transport	Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTTGGCTGAAGGGTACACCTA	0.522000														60			31		0	0	1	0	0
EID2B	126272	broad.mit.edu	37	19	40023290	40023290	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40023290G>A	uc002olz.1	-	0	205	c.153C>T	c.(151-153)gcC>gcT	p.A51A		NM_152361	NP_689574	Q96D98	EID2B_HUMAN	Homo sapiens EP300 interacting inhibitor of differentiation 2B (EID2B), mRNA.	51					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCGCAGCTTCGGCCACTGGGC	0.756000														13			6		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119288083	119288083	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:119288083C>T	uc003pyj.3	-	14	3298	c.2950G>A	c.(2950-2952)Gaa>Aaa	p.E984K	FAM184A_uc003pyk.4_Missense_Mutation_p.E815K|FAM184A_uc003pyl.4_Missense_Mutation_p.E815K|FAM184A_uc003pyi.3_Non-coding_Transcript	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	984										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GGTTTTGATTCTCTCATTAGA	0.294000														20			16		0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111889718	111889718	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:111889718G>A	uc001pml.3	+	20	2304	c.2007G>A	c.(2005-2007)ggG>ggA	p.G669G	DIXDC1_uc001pmm.3_Silent_p.G458G|DIXDC1_uc001pmn.3_Silent_p.G376G|DIXDC1_uc010rwq.2_Silent_p.G335G	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1, mRNA.	670	DIX.				Wnt receptor signaling pathway|multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GATGGGAAGGGAAAATTGTAG	0.428000														74			28		0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60919446	60919446	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:60919446C>T	uc002agv.3	-	0	284	c.128G>A	c.(127-129)gGa>gAa	p.G43E	RORA_uc002agw.3_Missense_Mutation_p.G43E|RORA_uc002agx.3_Intron	NM_134260	NP_599022	P35398	RORA_HUMAN	Homo sapiens RAR-related orphan receptor A (RORA), transcript variant 2, mRNA.	43	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.G43K(2)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						ccttctggCTCCTTCACCTGC	0.537000														70			6		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48965291	48965291	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48965291G>A	uc010kyv.1	+	0	1135	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		GGCTGGAAGGGGACTATTTTC	0.512000														122			12		0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6013256	6013256	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:6013256G>A	uc003zjr.3	-	0	2385	c.2352C>T	c.(2350-2352)tcC>tcT	p.S784S	RANBP6_uc011lmf.2_Silent_p.S432S|RANBP6_uc003zjs.3_3'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	784					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TAACTTCAATGGACTTTGCAA	0.388000														81			66		0	0	1	0	0
RPL18	6141	broad.mit.edu	37	19	49119388	49119388	+	Silent	SNP	G	A	A	rs138053229	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49119388G>A	uc002pjq.1	-	4	402	c.369C>T	c.(367-369)ttC>ttT	p.F123F	FAM83E_uc002pjn.2_5'Flank|RPL18_uc010xzs.1_3'UTR	NM_000979	NP_000970	Q07020	RL18_HUMAN	Homo sapiens ribosomal protein L18 (RPL18), mRNA.	123					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		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;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		CCAGCTGGTCGAAAGTGAGGA	0.642000														54			20		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509413	228509413	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228509413G>A	uc009xez.1	+	54	14915	c.14871G>A	c.(14869-14871)ctG>ctA	p.L4957L	OBSCN_uc001hsn.3_Silent_p.L4957L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4957	Ig-like 48.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTCTCTGCTGATCACTGGCC	0.612000														53			22		0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91034604	91034604	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:91034604C>T	uc002bpl.1	+	33	4389	c.4288C>T	c.(4288-4290)Cgt>Tgt	p.R1430C	IQGAP1_uc010uqg.1_Missense_Mutation_p.R51C	NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	1430	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ACGTGCTATCCGTGATGCCAA	0.408000														83			13		0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19062482	19062482	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:19062482C>T	uc001bay.3	+	7	2110	c.1512C>T	c.(1510-1512)tcC>tcT	p.S504S	PAX7_uc001baz.3_Silent_p.S502S|PAX7_uc010oct.2_Intron	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	504					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ggggaatgtccatttcacaga	0.542000			T	FOXO1A	alveolar rhabdomyosarcoma									12			11		0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96420455	96420455	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:96420455C>T	uc004aub.3	+	9	1323	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	PHF2_uc011lug.1_Silent_p.P275P	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	392					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGCAGCTGCCCCCTCATCTAG	0.557000														24			4		0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135447811	135447811	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135447811G>A	uc004cbn.3	+	6	925	c.877G>A	c.(877-879)Gat>Aat	p.D293N	C9orf171_uc004cbo.3_Missense_Mutation_p.D257N	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	293										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CACGGAGGCCGATCGCCAGAG	0.622000														57			34		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54760539	54760539	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54760539C>T	uc010yer.1	-	2	279	c.168G>A	c.(166-168)gaG>gaA	p.E56E	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.E56E|LILRB5_uc002qez.3_Silent_p.E56E|LILRB5_uc002qex.3_Silent_p.E56E|LILRB5_uc002qfa.1_Silent_p.E46E|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	56	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACGGTACTCCTCAGTCTCCA	0.627000														117			58		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214814107	214814107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:214814107C>T	uc001hkm.3	+	11	2600	c.2426C>T	c.(2425-2427)tCa>tTa	p.S809L		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	809					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGCATGCCTTCAGAGAGGAGT	0.388000														42			17		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915564	119915564	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:119915564G>A	uc003vjj.1	+	0	1843	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	293					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)					GTCACACTCCGAGTCTTCCGG	0.527000														31			14		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813468	106813469	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:106813468_106813469CC>TT	uc003ymd.3	+	7	1181_1182	c.1158_1159CC>TT	c.(1156-1161)gtccct>gtTTct	p.P387S	ZFPM2_uc011lhs.2_Missense_Mutation_p.P118S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	387					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGCTCCATGTCCCTAGCGGCAA	0.510000														99			60		0	0	1	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44420687	44420688	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44420687_44420688GG>AA	uc002xpk.3	+	0	112_113	c.44_45GG>AA	c.(43-45)ggg>gAA	p.G15E	WFDC3_uc002xpf.1_5'Flank|WFDC3_uc002xpj.1_5'Flank|WFDC3_uc002xph.1_5'Flank|WFDC3_uc010ghh.1_5'Flank	NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.	15						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GGACCTAGCGGGGCCGAGAGGG	0.752000														11			4		0	0	1	0	0
SGCD	6444	broad.mit.edu	37	5	155771593	155771593	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:155771593G>A	uc003lwc.4	+	2	617	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	SGCD_uc003lwa.1_Missense_Mutation_p.R33Q|SGCD_uc003lwb.3_Missense_Mutation_p.R33Q|SGCD_uc003lwd.4_Missense_Mutation_p.R32Q	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.	32					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCGGAAACGATGCCTGTAT	0.483000														81			9		0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46978120	46978120	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:46978120C>T	uc001cpx.3	+	3	1118	c.1103C>T	c.(1102-1104)gCc>gTc	p.A368V	DMBX1_uc001cpw.3_Missense_Mutation_p.A363V	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	368					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CGGCTCCGGGCCAAGCAGCAC	0.637000														119			12		0	0	1	0	0
ZNF18	7566	broad.mit.edu	37	17	11881772	11881772	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11881772G>A	uc002gng.1	-	8	1757	c.1152C>T	c.(1150-1152)acC>acT	p.T384T	ZNF18_uc002gnh.1_Silent_p.T384T|ZNF18_uc002gni.1_Silent_p.T383T	NM_144680	NP_653281	P17022	ZNF18_HUMAN	Homo sapiens zinc finger protein 18 (ZNF18), mRNA.	384					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CAAGCCACATGGTGGACATTT	0.532000														63			19		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103202396	103202396	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:103202396G>A	uc022ajr.1	-	34	5375	c.5215C>T	c.(5215-5217)Ccc>Tcc	p.P1739S	RELN_uc022ajq.1_Missense_Mutation_p.P1739S|RELN_uc010liz.3_Missense_Mutation_p.P1739S	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1739					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	p.S1738Y(1)		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)		CGGGTCCTGGGAGAACTAACC	0.433000														16			7		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154067584	154067584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154067584C>T	uc001fdw.3	-	14	2086	c.2014G>A	c.(2014-2016)Gaa>Aaa	p.E672K	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.E672K	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	672						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AATACCATTTCCTTCACAGAC	0.408000														40			21		0	0	1	0	0
LEMD1	93273	broad.mit.edu	37	1	205388426	205388426	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205388426G>A	uc001hcj.2	-	2	272	c.137C>T	c.(136-138)cCc>cTc	p.P46L	LEMD1_uc001hcl.2_Intron|LEMD1_uc001hci.2_Missense_Mutation_p.P46L|LEMD1_uc001hcm.2_Intron|LEMD1_uc001hcn.2_Intron|LEMD1_uc001hck.2_Non-coding_Transcript	NM_001199050	NP_001185979	Q68G75	LEMD1_HUMAN	Homo sapiens LEM domain containing 1 (LEMD1), transcript variant 1, mRNA.	46						integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			TGGTGCACAGGGAGGTGAGAC	0.448000														117			49		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57762304	57762304	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:57762304G>A	uc002emi.3	+	15	2288	c.2199G>A	c.(2197-2199)gaG>gaA	p.E733E	CCDC135_uc002emj.3_Silent_p.E733E|CCDC135_uc002emk.3_Silent_p.E668E	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	733						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTTTACAGGAGCGCATGATGC	0.587000														124			54		0	0	1	0	0
GPR19	2842	broad.mit.edu	37	12	12814457	12814457	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:12814457G>A	uc001rar.3	-	1	1119	c.926C>T	c.(925-927)tCc>tTc	p.S309F	GPR19_uc001raq.2_Missense_Mutation_p.S309F|GPR19_uc021qvj.1_Missense_Mutation_p.S309F	NM_006143	NP_006134	Q15760	GPR19_HUMAN	Homo sapiens G protein-coupled receptor 19 (GPR19), mRNA.	309						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GAAAACAAGGGAACTTTTCTT	0.388000														64			25		0	0	1	0	0
DAPP1	27071	broad.mit.edu	37	4	100738117	100738117	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:100738117C>T	uc003hvf.4	+	0	137	c.47C>T	c.(46-48)cCc>cTc	p.P16L	DAPP1_uc011cek.2_Missense_Mutation_p.P16L|DAPP1_uc010ilh.3_Missense_Mutation_p.P16L	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN	Homo sapiens dual adaptor of phosphotyrosine and 3-phosphoinositides (DAPP1), mRNA.	16					signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		ACCCAGGATCCCTCAGATCTG	0.552000														12			4		0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112989677	112989677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:112989677C>T	uc003dzx.3	+	5	1174	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	BOC_uc010hqi.3_Missense_Mutation_p.L185F|BOC_uc003dzy.3_Missense_Mutation_p.L185F|BOC_uc003dzz.3_Missense_Mutation_p.L185F|BOC_uc003eab.3_5'UTR	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	185	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTCAGGGAACCTCCAGATTGT	0.562000														85			27		0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12225853	12225854	+	Silent	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:12225853_12225854CC>TT	uc001mjz.3	+	3	609_610	c.321_322CC>TT	c.(319-324)tacctg>taTTtg	p.107_108YL>YL	MICAL2_uc010rch.1_Silent_p.107_108YL>YL|MICAL2_uc001mjy.3_Silent_p.107_108YL>YL|MICAL2_uc001mka.3_Silent_p.107_108YL>YL|MICAL2_uc010rci.2_Silent_p.107_108YL>YL|MICAL2_uc001mkb.3_Silent_p.107_108YL>YL|MICAL2_uc001mkc.3_Silent_p.107_108YL>YL	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	107						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AACTTGCCTACCTGGGAGCCAA	0.569000														56			10		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887095	9887096	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:9887095_9887096GG>AA	uc002koi.4	+	1	1068_1069	c.619_620GG>AA	c.(619-621)ggt>AAt	p.G207N	TXNDC2_uc002koh.4_Missense_Mutation_p.G140N|TXNDC2_uc021ugx.1_Missense_Mutation_p.G140N	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	207	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GCCCAAAGAGGGTGACATCCCC	0.569000														170			55		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181689353	181689353	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181689353C>T	uc009wxt.3	+	13	1958	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	CACNA1E_uc001gow.3_Missense_Mutation_p.S588F|CACNA1E_uc009wxs.3_Missense_Mutation_p.S588F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	588					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						TATTGGGCTTCCCTACGGAAT	0.473000														45			21		0	0	1	0	0
GPR15	2838	broad.mit.edu	37	3	98251249	98251249	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:98251249C>T	uc011bgy.2	+	0	372	c.372C>T	c.(370-372)ctC>ctT	p.L124L		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	124						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TCCTCCTGCTCACTTGCATGA	0.512000														61			9		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111997701	111997701	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:111997701G>A	uc003dyu.3	-	3	415	c.193C>T	c.(193-195)Caa>Taa	p.Q65*	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Nonsense_Mutation_p.Q65*	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	65					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GCGTATCTTTGGACCTAATAT	0.323000														100			37		0	0	1	0	0
RGS1	5996	broad.mit.edu	37	1	192545472	192545472	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:192545472G>A	uc001gsi.1	+	1	261	c.195G>A	c.(193-195)atG>atA	p.M65I	RGS1_uc010pou.1_Missense_Mutation_p.M65I	NM_002922	NP_002913	Q08116	RGS1_HUMAN	Homo sapiens regulator of G-protein signaling 1 (RGS1), mRNA.	65					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				AATCTGGAATGAAATCTTCCA	0.343000														49			24		0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869096	22869096	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22869096C>T	uc002zwe.3	-	1	1112	c.859G>A	c.(859-861)Gat>Aat	p.D287N	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.D287N	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GGCTGCCCATCTCCTTTATGC	0.383000														191			18		0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104129725	104129725	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104129725C>T	uc001kux.2	+	25	3614	c.3320C>T	c.(3319-3321)gCc>gTc	p.A1107V	GBF1_uc001kuy.2_Missense_Mutation_p.A1107V|GBF1_uc001kuz.2_Missense_Mutation_p.A1108V	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1107					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AAGAGAGTGGCCTTAGAGTGT	0.483000														58			27		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19183983	19183983	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:19183983G>A	uc001bba.1	-	1	326	c.325C>T	c.(325-327)Cag>Tag	p.Q109*		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	109					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGCACCGGCTGGACATTGTTG	0.552000														91			32		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76790259	76790259	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:76790259C>T	uc001jwn.1	+	17	6170	c.5677C>T	c.(5677-5679)Ccg>Tcg	p.P1893S	KAT6B_uc001jwo.1_Missense_Mutation_p.P1601S|KAT6B_uc001jwp.1_Missense_Mutation_p.P1710S	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1893	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GAATCTGCCGCCGCCTCTTTT	0.552000														199			80		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105840406	105840406	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105840406C>T	uc001kxr.3	-	1	195	c.26G>A	c.(25-27)cGa>cAa	p.R9Q	COL17A1_uc010qqv.1_Missense_Mutation_p.R9Q|COL17A1_uc009xxp.1_Missense_Mutation_p.R9Q	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	9	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGTTCCATCTCGTTTGTTTTT	0.308000														87			32		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9434089	9434089	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9434089G>A	uc021wam.1	+	28	2955	c.2940G>A	c.(2938-2940)gaG>gaA	p.E980E	PLCB4_uc010gbw.1_Silent_p.E980E|PLCB4_uc010gbx.3_Silent_p.E992E|PLCB4_uc021wal.1_Silent_p.E980E|PLCB4_uc002wnh.3_Silent_p.E827E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	980					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAATCCTAGAGAAGGCAATGA	0.388000														76			8		0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131261477	131261477	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:131261477C>T	uc011blq.2	-	14	1627	c.1517G>A	c.(1516-1518)gGg>gAg	p.G506E	CPNE4_uc003eok.3_Missense_Mutation_p.G488E|CPNE4_uc003eol.3_Missense_Mutation_p.G506E|CPNE4_uc003eom.3_Missense_Mutation_p.G488E|CPNE4_uc003eoj.3_Missense_Mutation_p.G39E	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	488	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CCTCAGAATCCCATCATCACC	0.537000														78			22		0	0	1	0	0
GPR126	57211	broad.mit.edu	37	6	142691444	142691444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:142691444G>A	uc010khe.3	+	3	994	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	GPR126_uc010khc.3_Missense_Mutation_p.E195K|GPR126_uc010khd.3_Missense_Mutation_p.E195K|GPR126_uc010khf.3_Missense_Mutation_p.E195K|GPR126_uc003qix.2_Missense_Mutation_p.E195K	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	195	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AGTTGGCCATGAAGACAGTGA	0.438000														24			14		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427572	135427572	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:135427572G>A	uc004ezu.1	+	5	1998	c.1707G>A	c.(1705-1707)gaG>gaA	p.E569E	GPR112_uc010nsb.1_Silent_p.E364E|GPR112_uc010nsc.1_Silent_p.E336E	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	569					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGGGACTGAGAGTGTACAGA	0.428000														36			29		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22735275	22735275	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22735275C>T	uc021wml.1	+	50		c.5821C>T								Parts of antibodies, mostly variable regions.																		TCCTCCTCACCCTCCTCACTC	0.577000														11			5		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642565	156642565	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156642565G>A	uc001fpq.3	-	3	1548	c.1415C>T	c.(1414-1416)cCt>cTt	p.P472L	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	472	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAGTGGTCAGGGCTGAGGGG	0.612000														180			20		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44019227	44019227	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44019227C>T	uc001cjr.3	+	3	496	c.156C>T	c.(154-156)ttC>ttT	p.F52F	PTPRF_uc001cjq.4_Silent_p.F52F|PTPRF_uc001cjs.3_Silent_p.F52F|PTPRF_uc001cjt.4_Silent_p.F52F	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	52	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TAGCCTCCTTCGTGTGCCAAG	0.562000														240			98		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41689911	41689912	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:41689911_41689912CC>TT	uc003gvz.4	+	28	4560_4561	c.4143_4144CC>TT	c.(4141-4146)acccct>acTTct	p.P1382S	LIMCH1_uc003gwe.4_Intron|LIMCH1_uc003gvu.4_Missense_Mutation_p.P998S|LIMCH1_uc003gvv.4_Intron|LIMCH1_uc003gvw.4_Intron|LIMCH1_uc003gvx.4_Intron|LIMCH1_uc003gvy.4_Intron|LIMCH1_uc003gwa.4_Intron|LIMCH1_uc011byu.2_Missense_Mutation_p.P831S|LIMCH1_uc003gwc.4_Intron|LIMCH1_uc003gwd.4_Intron|LIMCH1_uc011byv.2_Missense_Mutation_p.P748S|LIMCH1_uc011byw.2_Intron	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	998					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTTCTCCCACCCCTCCCGGTCA	0.485000														82			24		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18876381	18876381	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:18876381G>A	uc021qvx.1	-	3	422	c.231C>T	c.(229-231)ttC>ttT	p.F77F	PLCZ1_uc001rdv.4_5'UTR|PLCZ1_uc001rdw.4_Intron	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	77					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AATATGTGTTGAAAATCTCAA	0.348000														52			23		0	0	1	0	0
UBXN2B	137886	broad.mit.edu	37	8	59345768	59345768	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:59345768C>T	uc003xtl.3	+	3	511	c.389C>T	c.(388-390)tCt>tTt	p.S130F		NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN	Homo sapiens UBX domain protein 2B (UBXN2B), mRNA.	130						Golgi apparatus|cytosol|endoplasmic reticulum|nucleus		p.R129L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						TGTAAGCGGTCTGAATATATC	0.308000														206			81		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118651	118651	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000205.1:118651G>A	uc002kgk.4	+	0		c.2029G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TCTGCTTACGGAAGCTCTGAA	0.373000														10			4		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133900636	133900636	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133900636C>T	uc003ytw.3	+	9	2625	c.2584C>T	c.(2584-2586)Ctc>Ttc	p.L862F		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	862	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGAGAATATCCTCCTGGAGCC	0.537000														46			13		0	0	1	0	0
CACNG8	59283	broad.mit.edu	37	19	54466657	54466657	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54466657C>T	uc002qcs.2	+	0	368	c.261C>T	c.(259-261)ctC>ctT	p.L87L		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 8 (CACNG8), mRNA.	87					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		ACTCGGGCCTCTGGAGGATCT	0.771000														15			4		0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113235516	113235516	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:113235516C>T	uc001eck.3	+	6	1375	c.1105C>T	c.(1105-1107)Cct>Tct	p.P369S	MOV10_uc001ecl.2_Missense_Mutation_p.P369S|MOV10_uc001ecn.3_Missense_Mutation_p.P369S|MOV10_uc001ecm.3_Missense_Mutation_p.P309S|MOV10_uc009wgj.1_Missense_Mutation_p.P309S	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	369					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GACCTGGGACCCTGTGGACCA	0.612000														21			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179632515	179632515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179632515G>A	uc021vsy.1	-	39	9667	c.9442C>T	c.(9442-9444)Cgc>Tgc	p.R3148C	TTN_uc021vsz.1_Missense_Mutation_p.R3102C|TTN_uc021vta.1_Missense_Mutation_p.R3102C|TTN_uc021vtb.1_Missense_Mutation_p.R3102C|TTN_uc002unb.2_Missense_Mutation_p.R3148C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3148							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R3147Q(2)|p.R3147*(2)		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)			CTTCGGATGCGAACATCTCTG	0.398000														177			52		0	0	1	0	0
CXorf65	158830	broad.mit.edu	37	X	70325897	70325897	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:70325897G>T	uc011mpo.2	-	2	435	c.203C>A	c.(202-204)aCa>aAa	p.T68K	CXorf65_uc011mpp.2_Missense_Mutation_p.T20K	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	Homo sapiens chromosome X open reading frame 65 (CXorf65), transcript variant 1, mRNA.	68										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						GCTTCGAGCTGTAAGGTATTT	0.473000														14			32		9.65021e-13	9.69223e-13	1	1	0
PGC	5225	broad.mit.edu	37	6	41704679	41704679	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:41704679G>A	uc003ora.2	-	8	1145	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	TFEB_uc003oqs.1_5'Flank|TFEB_uc003oqt.1_5'Flank|TFEB_uc003oqu.1_5'Flank|TFEB_uc010jxq.1_5'Flank	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	360					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			AGGATCCACAGGGGCTGGCCG	0.562000														57			20		0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85566375	85566375	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:85566375G>A	uc011ccv.2	+	12	1651	c.1153_splice	c.e12-1	p.D385_splice	CDS1_uc010ike.1_Splice_Site_p.D149_splice	NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	385					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GTTTCTAAAGGATTTTGCAAA	0.338000														63			23		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120871407	120871407	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:120871407G>A	uc003eec.4	+	8	893	c.753_splice	c.e8+1	p.E251_splice	STXBP5L_uc011bji.2_Splice_Site_p.E251_splice	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	251					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATTATGATGAGGTAAGTGATT	0.353000														54			27		0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160811241	160811241	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160811241C>T	uc009wtq.3	-	2	654	c.429G>A	c.(427-429)ggG>ggA	p.G143G	CD244_uc001fxa.3_Silent_p.G138G|CD244_uc009wtr.3_Intron|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Intron	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	143	Ig-like 2.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCAGGATCTTCCCCTGCCCCT	0.507000														82			34		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61623180	61623180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61623180G>A	uc002jay.3	+	13	2982	c.2902G>A	c.(2902-2904)Gaa>Aaa	p.E968K	KCNH6_uc010wpl.2_Missense_Mutation_p.E809K|KCNH6_uc010wpm.2_Missense_Mutation_p.E932K|KCNH6_uc002jaz.1_Missense_Mutation_p.E879K	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	968					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CTCCCTCCCTGAACACCTTGG	0.562000														77			32		0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584754	1584754	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:1584754C>T	uc022brv.1	-	0	698	c.698G>A	c.(697-699)aGg>aAg	p.R233K	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.R233K	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	233						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACCGCGCGCCTCCGCTGCTC	0.662000			T	CRLF2	"""B-ALL, Downs associated ALL"""									18			11		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4945269	4945269	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:4945269C>T	uc002cyd.1	-	10	1325	c.1235G>A	c.(1234-1236)gGg>gAg	p.G412E		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	412					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CACCTGCTCCCCCTCAAAGTC	0.627000														46			15		0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120085516	120085516	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:120085516A>T	uc003icp.4	+	4	740	c.527A>T	c.(526-528)aAg>aTg	p.K176M		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	176							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CCTGAAGGAAAGGCAGAACTG	0.423000														76			27		0	0	1	0	0
SCP2	6342	broad.mit.edu	37	1	53413730	53413730	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:53413730G>A	uc001cur.2	+	2	345	c.177G>A	c.(175-177)caG>caA	p.Q59Q	SCP2_uc010ono.2_5'UTR|SCP2_uc010onp.2_Intron|SCP2_uc009vzi.2_Silent_p.Q59Q|SCP2_uc001cus.2_5'UTR|SCP2_uc001cuq.2_Silent_p.Q59Q	NM_002979	NP_001180546	P22307	NLTP_HUMAN	Homo sapiens sterol carrier protein 2 (SCP2), transcript variant 1, mRNA.	59					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CAGTGGACCAGGCATGTGTTG	0.348000														178			46		0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68250149	68250149	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:68250149G>A	uc001xka.2	-	20	3859	c.3720C>T	c.(3718-3720)tcC>tcT	p.S1240S	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Silent_p.S1240S	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1240					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGCTTTGCCGGGATGAGCAAA	0.592000														69			40		0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30034149	30034149	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:30034149C>T	uc021qfi.1	-	0	77	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	KCNA4_uc001msk.3_Missense_Mutation_p.R26Q	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	26						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CTCCCGGGCCCGGGCCTGGGC	0.627000														132			27		0	0	1	0	0
RPL18	6141	broad.mit.edu	37	19	49120585	49120585	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49120585G>A	uc002pjq.1	-	2	219	c.186C>T	c.(184-186)tcC>tcT	p.S62S	RPL18_uc010xzs.1_Silent_p.S62S|RPL18_uc021uwv.1_Silent_p.S62S|SPHK2_uc010xzt.2_5'Flank|SPHK2_uc002pjt.3_5'Flank|SPHK2_uc002pjr.3_5'Flank|SPHK2_uc002pjs.3_5'Flank	NM_000979	NP_000970	Q07020	RL18_HUMAN	Homo sapiens ribosomal protein L18 (RPL18), mRNA.	62				S -> C (in Ref. 3; AAH21743).	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		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;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		TCCGGGAAAGGGACAGAGGCG	0.562000														167			56		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77283313	77283313	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77283313C>T	uc003hkb.4	-	11	2139	c.1986G>A	c.(1984-1986)gtG>gtA	p.V662V		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	662										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TACTTGTTTTCACCTCATTTA	0.418000														90			33		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43507420	43507420	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43507420G>A	uc001zrb.4	-	2	693	c.393C>T	c.(391-393)tcC>tcT	p.S131S	EPB42_uc001zra.4_Silent_p.S101S|EPB42_uc010udm.2_Intron	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	101					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AGATGGTCCAGGACTGGGCAT	0.567000														76			31		0	0	1	0	0
FNDC9	408263	broad.mit.edu	37	5	156770210	156770210	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156770210G>A	uc003lwu.2	-	1	523	c.335C>T	c.(334-336)tCc>tTc	p.S112F	CYFIP2_uc021ygm.1_Intron|CYFIP2_uc011ddn.2_Intron|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Intron|CYFIP2_uc021ygo.1_Intron|CYFIP2_uc003lwt.3_Intron|CYFIP2_uc011ddp.2_Intron|FNDC9_uc021ygp.1_Missense_Mutation_p.S112F	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	Homo sapiens fibronectin type III domain containing 9 (FNDC9), mRNA.	112						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CACCCAAAGGGAGATCTGGGG	0.587000											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			16		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134973999	134973999	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:134973999G>A	uc001llz.1	+	0	29	c.28G>A	c.(28-30)Gat>Aat	p.D10N		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	10					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGCCGCGGCGGATCTTTACGA	0.756000														12			5		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134108468	134108468	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:134108468C>T	uc003ytw.3	+	42	7464	c.7423C>T	c.(7423-7425)Cct>Tct	p.P2475S	TG_uc010mdw.3_Missense_Mutation_p.P1234S|TG_uc011ljb.2_Missense_Mutation_p.P844S|TG_uc011ljc.2_Missense_Mutation_p.P608S|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2475					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CGTGAGTGGCCCTTTCCACTA	0.502000														160			75		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55699491	55699491	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55699491C>T	uc002qjq.3	-	12	2503	c.2430G>A	c.(2428-2430)agG>agA	p.R810R	PTPRH_uc010esv.3_Silent_p.R632R|BC034929_uc002qjr.3_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	810					apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TCTCATTCTTCCTGACGTGGT	0.572000														112			55		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82447513	82447513	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:82447513C>T	uc001dit.4	+	17	3265	c.3084C>T	c.(3082-3084)ttC>ttT	p.F1028F	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.F1028F|LPHN2_uc001div.3_Silent_p.F1028F|LPHN2_uc009wcd.3_Silent_p.F1028F|LPHN2_uc001diw.3_Silent_p.F612F|LPHN2_uc009wce.1_Silent_p.F129F	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1041					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.A1027S(1)|p.A1027T(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTGGCGCTTTCGCTCTTCTGT	0.383000														318			94		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215876180	215876180	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:215876180C>T	uc002vew.3	-	16	2535	c.2315G>A	c.(2314-2316)gGa>gAa	p.G772E	ABCA12_uc002vev.3_Missense_Mutation_p.G454E|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	772					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.G772E(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TATGGGAATTCCATATTTTGA	0.343000														39			17		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61873986	61873986	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61873986G>A	uc001jky.3	-	25	3283	c.2945C>T	c.(2944-2946)tCt>tTt	p.S982F	ANK3_uc001jkw.3_Missense_Mutation_p.S116F|ANK3_uc009xpa.3_Missense_Mutation_p.S116F|ANK3_uc001jkx.3_Missense_Mutation_p.S160F|ANK3_uc010qih.2_Missense_Mutation_p.S983F|ANK3_uc001jkz.4_Missense_Mutation_p.S976F|ANK3_uc001jla.1_Missense_Mutation_p.S48F|ANK3_uc001jlb.1_Missense_Mutation_p.S489F	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	982	ZU5.				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						TACTTACCCAGAATGAATGGG	0.348000														48			18		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922731	24922731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24922731C>T	uc001ywo.3	+	0	2191	c.1717C>T	c.(1717-1719)Cct>Tct	p.P573S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	573					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)		TGCGGTAGACCCTGAAGTAGT	0.463000														87			39		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	122075631	122075631	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:122075631C>T	uc004bkc.2	-	1	459	c.3G>A	c.(1-3)atG>atA	p.M1I	DBC1_uc004bkd.2_Missense_Mutation_p.M1I	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	1					cell cycle arrest|cell death	cytoplasm	protein binding			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						ACCTCCAGTTCATGCTTTTCT	0.453000														38			10		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41559131	41559131	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:41559131C>T	uc003xok.3	-	21	2482	c.2398G>A	c.(2398-2400)Gat>Aat	p.D800N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.D108N|ANK1_uc003xoi.3_Missense_Mutation_p.D800N|ANK1_uc003xoj.3_Missense_Mutation_p.D800N|ANK1_uc003xol.3_Missense_Mutation_p.D800N|ANK1_uc003xom.3_Missense_Mutation_p.D833N	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	800	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGATGCTTATCACTGACTAAC	0.483000											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			25		0	0	1	0	0
CD3E	916	broad.mit.edu	37	11	118183390	118183390	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118183390G>A	uc001psq.4	+	5	417	c.161G>A	c.(160-162)gGa>gAa	p.G54E	CD3E_uc010rya.2_Missense_Mutation_p.G54E	NM_000733	NP_000724	P07766	CD3E_HUMAN	Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	54	Ig-like.				G-protein coupled receptor protein signaling pathway|T cell costimulation|T cell receptor signaling pathway|signal complex assembly|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	SH3 domain binding|T cell receptor binding|protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	CAGTATCCTGGATCTGAAATA	0.413000														176			90		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216155	55216156	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55216155_55216156GG>AA	uc003pcm.1	+	4	561_562	c.475_476GG>AA	c.(475-477)gga>AAa	p.G159K		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	159						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTCAGCAAATGGAAATCCGTGT	0.455000														212			74		0	0	1	0	0
FATE1	89885	broad.mit.edu	37	X	150891177	150891177	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:150891177C>T	uc004fex.3	+	4	582	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.	166						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGATCATCGCCGTGCTGG	0.652000														19			28		0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151105886	151105886	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151105886G>A	uc001ewv.3	-	19	2299	c.1963C>T	c.(1963-1965)Ctc>Ttc	p.L655F	SEMA6C_uc001ewu.3_Missense_Mutation_p.L623F|SEMA6C_uc001eww.3_Missense_Mutation_p.L615F	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	623						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGACCAGGAGGCCAGAGACT	0.721000														15			4		0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31474869	31474869	+	Silent	SNP	C	T	T	rs143678527	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31474869C>T	uc003ntn.4	+	3	800	c.684C>T	c.(682-684)tcC>tcT	p.S228S	MICB_uc011dnm.2_Silent_p.S196S|MICB_uc021yuq.1_Silent_p.S196S|MICB_uc003nto.4_Silent_p.S185S	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	228	Ig-like C1-type.				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	MHC class I protein complex|integral to plasma membrane	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GCAGGGCTTCCAGCTTCTATC	0.577000														51			15		0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54140117	54140117	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54140117C>T	uc002qcf.1	+	2	502	c.451C>T	c.(451-453)Cat>Tat	p.H151Y		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	151						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CAGAATAGTCCATTTTGGCTG	0.522000														135			61		0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35547981	35547981	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:35547981C>T	uc011dte.1	-	8	1061	c.858G>A	c.(856-858)caG>caA	p.Q286Q	FKBP5_uc003okx.2_Silent_p.Q286Q|FKBP5_uc011dtf.1_Silent_p.Q107Q|FKBP5_uc003oky.2_Silent_p.Q286Q	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	286					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GAATCACCGCCTGCATGTATT	0.428000														246			22		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913431	6913431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6913431G>A	uc010rau.2	-	0	301	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAAAAGAGAAGTCGAGCTGCG	0.478000														64			21		0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285806	44285806	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:44285806G>A	uc010qfe.1	-	0	60	c.30C>T	c.(28-30)ccC>ccT	p.P10P						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		AGTCGGGCTGGGGGCAACCAG	0.572000														34			4		0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38234401	38234401	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:38234401G>A	uc001zjw.3	+	7	616	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	TMCO5A_uc001zjv.1_Missense_Mutation_p.E172K|TMCO5A_uc010bbc.1_Missense_Mutation_p.E172K	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	172						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GAAGTACCAGGAAACGTTGAA	0.368000														140			65		0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44189219	44189219	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:44189219G>A	uc002zbm.3	+	16	1607	c.1544G>A	c.(1543-1545)gGg>gAg	p.G515E	PDE9A_uc002zbn.3_Missense_Mutation_p.G388E|PDE9A_uc002zbo.3_Missense_Mutation_p.G462E|PDE9A_uc002zbp.3_Missense_Mutation_p.G308E|PDE9A_uc002zbq.3_Missense_Mutation_p.G413E|PDE9A_uc002zbs.3_Missense_Mutation_p.G308E|PDE9A_uc002zbr.3_Missense_Mutation_p.G308E|PDE9A_uc002zbt.3_Missense_Mutation_p.G387E|PDE9A_uc002zbu.3_Missense_Mutation_p.G381E|PDE9A_uc002zbv.3_Missense_Mutation_p.G355E|PDE9A_uc002zbw.3_Missense_Mutation_p.G298E|PDE9A_uc002zbx.3_Missense_Mutation_p.G455E|PDE9A_uc002zby.3_Missense_Mutation_p.G298E|PDE9A_uc002zbz.3_Missense_Mutation_p.G407E|PDE9A_uc002zca.3_Missense_Mutation_p.G474E|PDE9A_uc002zcb.3_Missense_Mutation_p.G489E|PDE9A_uc002zcc.3_Missense_Mutation_p.G414E|PDE9A_uc002zcd.3_Missense_Mutation_p.G429E|PDE9A_uc002zce.3_Missense_Mutation_p.G448E|PDE9A_uc002zcf.3_Missense_Mutation_p.G308E|PDE9A_uc002zcg.3_Missense_Mutation_p.G308E	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	515	Catalytic (By similarity).				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						GCCCAGATTGGGTTCATCAAG	0.507000														51			28		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610231	47610231	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47610231G>A	uc001cqv.1	+	7	958	c.907G>A	c.(907-909)Ggg>Agg	p.G303R	CYP4A22_uc009vyo.3_Missense_Mutation_p.G303R|CYP4A22_uc009vyp.3_Intron	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	303						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GATGGAGAATGGGAGCATCTT	0.537000														156			23		0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206224750	206224750	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:206224750G>A	uc001hds.2	+	0	468	c.310G>A	c.(310-312)Gac>Aac	p.D104N		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	104					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCAGGGCCCCGACCTCCTGTG	0.632000														53			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179429682	179429682	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179429682C>T	uc021vsy.1	-	274	73698	c.73473G>A	c.(73471-73473)ctG>ctA	p.L24491L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L18186L|TTN_uc021vta.1_Silent_p.L18119L|TTN_uc021vtb.1_Silent_p.L17994L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25418	Fibronectin type-III 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L24490L(1)		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)			CCTTAGAATCCAGTGGGGCAC	0.383000														129			40		0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89618454	89618454	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:89618454G>A	uc001dna.2	-	3	464	c.325C>T	c.(325-327)Cct>Tct	p.P109S	GBP2_uc001dmy.1_5'Flank	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	109						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TCACTCTTAGGGTCACTCTAG	0.443000														58			5		0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82937540	82937540	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:82937540G>A	uc003kim.3	-	3	911	c.840C>T	c.(838-840)ctC>ctT	p.L280L	HAPLN1_uc003kin.3_Silent_p.L280L	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	280	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CACCATCATTGAGACAAGCTT	0.512000														194			74		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101818645	101818645	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:101818645G>A	uc004azb.1	+	34	3502	c.3296G>A	c.(3295-3297)gGg>gAg	p.G1099E		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	1099	Triple-helical region 8 (COL8).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G1099W(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGGCCACCGGGGCCCCCGGGG	0.622000														59			19		0	0	1	0	0
MELK	9833	broad.mit.edu	37	9	36651812	36651812	+	Missense_Mutation	SNP	C	T	T	rs140963190		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:36651812C>T	uc003zzn.3	+	11	1129	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	MELK_uc011lpm.2_Missense_Mutation_p.R200C|MELK_uc011lpn.2_Missense_Mutation_p.R331C|MELK_uc011lpo.2_Missense_Mutation_p.R137C|MELK_uc010mll.3_Missense_Mutation_p.R299C|MELK_uc011lpp.2_Missense_Mutation_p.R283C|MELK_uc010mlm.3_Missense_Mutation_p.R260C|MELK_uc011lpr.2_Missense_Mutation_p.R260C|MELK_uc011lpq.2_Missense_Mutation_p.R137C|MELK_uc011lps.2_Missense_Mutation_p.R251C	NM_014791	NP_055606	Q14680	MELK_HUMAN	Homo sapiens maternal embryonic leucine zipper kinase (MELK), mRNA.	331						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			AAAACCAGTTCGTTTAAGGCT	0.468000														224			109		0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115760080	115760080	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:115760080C>T	uc011lwy.2	-	4	1699	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TCAGTACATTCATATGGTTTC	0.403000														64			7		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100395072	100395072	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100395072G>A	uc003uwj.3	+	46	8513	c.8348G>A	c.(8347-8349)aGa>aAa	p.R2783K	ZAN_uc003uwk.3_Missense_Mutation_p.R2692K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.R733K	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2784	VWFC 5.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCATTTACAGAACGAGGAGG	0.622000														51			17		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29848378	29848378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29848378G>A	uc002kxl.3	-	5	2143	c.2087C>T	c.(2086-2088)cCc>cTc	p.P696L	FAM59A_uc002kxk.2_Missense_Mutation_p.P695L	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	696										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						GGCTGACTTGGGACAACCAGA	0.547000														80			42		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124096194	124096194	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124096194G>A	uc010saf.2	+	0	797	c.797G>A	c.(796-798)gGg>gAg	p.G266E		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	266						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GTTTTCTTTGGGTCTGCAGCA	0.507000														42			32		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976126	131976126	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:131976126G>A	uc002tsn.2	+	0	203	c.151G>A	c.(151-153)Gac>Aac	p.D51N	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	51							ATP binding										AGACCACGACGACTCTGCTAT	0.597000														340			24		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71555572	71555572	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:71555572C>T	uc004agu.3	+	13	1673	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	PIP5K1B_uc011lrq.2_Silent_p.S456S|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	456						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CCCTGGGATCCCGACACAGGC	0.433000														147			32		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106780570	106780570	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106780570G>A	uc021ser.1	-	655		c.18124C>T								Parts of antibodies, mostly variable regions.																		GCTTCAGGGAGAACTGGTTCT	0.537000														280			91		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8720369	8720369	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:8720369G>A	uc002knr.2	+	3	374	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	SOGA2_uc002knq.2_Missense_Mutation_p.E78K	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	429								p.E78K(1)									ATTGCACCACGAACTTAAGAC	0.463000														76			26		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2967321	2967321	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:2967321C>T	uc003bpc.3	+	12	1555	c.1216C>T	c.(1216-1218)Cca>Tca	p.P406S	CNTN4_uc003bpb.1_Missense_Mutation_p.P78S|CNTN4_uc021wsg.1_Missense_Mutation_p.P406S|CNTN4_uc003bpd.1_Missense_Mutation_p.P406S|CNTN4_uc003bpe.3_Missense_Mutation_p.P78S|CNTN4_uc003bpf.3_Missense_Mutation_p.P78S	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	406	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGCTGTAGGTCCAGATTTTTC	0.358000														125			33		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200739	132200739	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:132200739C>T	uc002tst.2	-	0	1729	c.1263G>A	c.(1261-1263)ggG>ggA	p.G421G						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		CCTGAACCTTCCCAAGCAGCT	0.642000														23			7		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7310207	7310207	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7310207C>T	uc001qss.3	+	15	3224	c.2686C>T	c.(2686-2688)Cca>Tca	p.P896S	CLSTN3_uc001qsr.3_Missense_Mutation_p.P884S|CLSTN3_uc001qst.3_Missense_Mutation_p.P292S	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	884					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CGGCGGGCCTCCAGGGGCCTC	0.642000														17			9		0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9990017	9990017	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:9990017G>A	uc001mib.2	-	13	1609	c.1471C>T	c.(1471-1473)Ctt>Ttt	p.L491F	SBF2_uc001mif.3_Missense_Mutation_p.L247F|SBF2_uc001mih.4_Missense_Mutation_p.L20F	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	491					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGGAAAGGAAGAATATGAACT	0.413000														235			52		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97158976	97158976	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:97158976C>T	uc021rcc.1	+	26	3614	c.3536C>T	c.(3535-3537)tCg>tTg	p.S1179L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1179										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTTTTGTCTTCGTATACAGAT	0.289000														73			26		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182885	140182885	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140182885C>T	uc003lhf.2	+	0	2103	c.2103C>T	c.(2101-2103)atC>atT	p.I701I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.I701I	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	709					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)			TGTACTTGATCGTCGCCATCT	0.662000														151			13		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664043	44664043	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44664043G>A	uc010zxl.1	+	3	293	c.217_splice	c.e3-1	p.E73_splice	SLC12A5_uc002xra.2_Splice_Site_p.E50_splice|SLC12A5_uc010zxm.1_Splice_Site|SLC12A5_uc002xrb.2_Splice_Site_p.E50_splice	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	73					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCCTCCATAGGAGGAGATGGA	0.592000														262			29		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760766	15760766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15760766C>T	uc010xok.2	+	6	741	c.691C>T	c.(691-693)Ctt>Ttt	p.L231F	CYP4F3_uc010xol.2_Missense_Mutation_p.L231F|CYP4F3_uc002nbj.3_Missense_Mutation_p.L231F|CYP4F3_uc010xom.2_Missense_Mutation_p.L82F|CYP4F3_uc002nbk.3_Missense_Mutation_p.L231F|CYP4F3_uc010xon.2_5'Flank	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	231					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCTCAGTGCCCTTGTGACAAA	0.527000														154			76		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52400880	52400880	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52400880G>A	uc011bef.2	+	35	6003	c.5742G>A	c.(5740-5742)gaG>gaA	p.E1914E		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1914	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTACGGGGAGTTTGACCTCC	0.622000														97			37		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31914248	31914248	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31914248G>A	uc003nyj.4	+	1	441	c.163G>A	c.(163-165)Ggc>Agc	p.G55S	CFB_uc011dor.2_Missense_Mutation_p.G557S|CFB_uc011dos.1_Missense_Mutation_p.G55S|CFB_uc003nyi.2_Missense_Mutation_p.G55S	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	55	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCTCCAAGAGGGCCAGGCACT	0.602000														61			28		0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67685211	67685211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67685211C>T	uc002etn.3	+	22	2426	c.2306C>T	c.(2305-2307)tCt>tTt	p.S769F	RLTPR_uc010cel.1_Missense_Mutation_p.S762F|RLTPR_uc010vjr.2_Missense_Mutation_p.S733F|RLTPR_uc010vjs.1_5'Flank	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	769										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCCAACTTCTCTCTCAGCGTG	0.612000														62			26		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108813853	108813853	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108813853C>T	uc003dxl.3	-	6	573	c.486G>A	c.(484-486)caG>caA	p.Q162Q	MORC1_uc011bhn.2_Silent_p.Q162Q	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	162					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.Q162R(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTGCAAATTTCTGGGGATCAT	0.323000														54			17		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27997756	27997756	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:27997756C>T	uc004dbx.1	-	0	1811	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	566								p.D566N(2)|p.R565*(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GCTCCATGATCTCTCCAGCCG	0.512000														69			12		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3329121	3329121	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3329121C>T	uc001akf.3	+	8	2442	c.2360C>T	c.(2359-2361)cCc>cTc	p.P787L	PRDM16_uc001ake.3_Missense_Mutation_p.P787L|PRDM16_uc009vlh.3_Missense_Mutation_p.P488L|PRDM16_uc001akc.3_Missense_Mutation_p.P787L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	787	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCATCCTGCCCATGCCCAAG	0.711000			T	EVI1	"""MDS, AML"""									62			6		0	0	1	0	0
TRIM61	391712	broad.mit.edu	37	4	165891019	165891019	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:165891019C>T	uc003iqw.3	-	2	747	c.136G>A	c.(136-138)Gat>Aat	p.D46N		NM_001012414	NP_001012414	Q5EBN2	TRI61_HUMAN	Homo sapiens tripartite motif containing 61 (TRIM61), mRNA.	46						intracellular	zinc ion binding			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		TCATGTAGATCCTTCCAGGAC	0.463000														116			27		0	0	1	0	0
BSND	7809	broad.mit.edu	37	1	55474208	55474208	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55474208G>A	uc001cye.3	+	3	1113	c.870G>A	c.(868-870)aaG>aaA	p.K290K		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	290						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						AACCTGAGAAGGAAGAGGAAG	0.582000														73			21		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21145707	21145707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21145707G>A	uc010vbe.2	-	6	955	c.955C>T	c.(955-957)Cct>Tct	p.P319S	DNAH3_uc002die.2_Missense_Mutation_p.P290S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	319	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTCTTTGAGGAAACAAGCGG	0.527000														127			34		0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22332005	22332005	+	Silent	SNP	C	T	T	rs150719625		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22332005C>T	uc001bfl.3	+	2	214	c.195C>T	c.(193-195)ccC>ccT	p.P65P	CELA3B_uc009vqf.3_Silent_p.P64P	NM_005747	NP_005738	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3A (CELA3A), mRNA.	65	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TCATCGCCCCCGATTGGGTTG	0.617000											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		118			13		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580266	140580266	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140580266C>T	uc003liy.3	+	0	919	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	307	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.P306H(1)		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)			AAGAGCACCTCTGGATTTTGA	0.358000														78			45		0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24789026	24789026	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24789026G>A	uc001wow.3	-	20	3074	c.2655C>T	c.(2653-2655)ttC>ttT	p.F885F	ADCY4_uc010toh.2_Silent_p.F571F|ADCY4_uc001wox.3_Silent_p.F885F|ADCY4_uc001woy.3_Silent_p.F885F	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	885					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATTCAGAGTAGAACTCCTTGA	0.488000														53			21		0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63276393	63276393	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63276393G>A	uc001nxc.2	+	2	712	c.371G>A	c.(370-372)tGg>tAg	p.W124*	LGALS12_uc001nxa.2_Nonsense_Mutation_p.W123*|LGALS12_uc001nxb.2_Nonsense_Mutation_p.W123*|LGALS12_uc001nxd.2_Nonsense_Mutation_p.W62*|LGALS12_uc001nxe.2_Nonsense_Mutation_p.W62*|LGALS12_uc009yot.2_Nonsense_Mutation_p.W83*	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	123	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GAGGCCCGGTGGCCCCACCTG	0.592000														73			18		0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76098601	76098601	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76098601C>T	uc002jud.2	+	18	5148	c.4548C>T	c.(4546-4548)ctC>ctT	p.L1516L	TNRC6C_uc002juf.2_Silent_p.L1552L	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1516	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCAGCTGGCTCGTTCTTCGAA	0.592000														17			6		0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59853806	59853806	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:59853806G>A	uc002izk.2	-	13	2359	c.2053C>T	c.(2053-2055)Cag>Tag	p.Q685*	BRIP1_uc002izl.1_Nonsense_Mutation_p.Q66*	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	685					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTCACAGTCTGGCACACAGAT	0.393000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						139			67		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431712	140431712	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140431712C>T	uc003lik.1	+	0	734	c.657C>T	c.(655-657)tcC>tcT	p.S219S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	219	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGCGGGTCCCCGCCTAAGT	0.592000														17			7		0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148963691	148963692	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:148963691_148963692CC>TT	uc011kuo.2	+	1	453_454	c.290_291CC>TT	c.(289-291)gcc>gTT	p.A97V	AF035281_uc003wfr.4_Non-coding_Transcript	NM_001195220	NP_001182149	C9J9J2	C9J9J2_HUMAN	Homo sapiens zinc finger family member 783 (ZNF783), mRNA.	97					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GGCAAGTGGGCCGTGCTGGGGA	0.629000														99			30		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941084	22941084	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22941084C>T	uc021urt.1	-	3	1782	c.1627G>A	c.(1627-1629)Ggc>Agc	p.G543S		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAGCTTTGCCACATTCTTCA	0.343000														72			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179659733	179659733	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179659733G>A	uc021vsy.1	-	6	1386	c.1161C>T	c.(1159-1161)acC>acT	p.T387T	TTN_uc021vsz.1_Silent_p.T387T|TTN_uc021vta.1_Silent_p.T387T|TTN_uc021vtb.1_Silent_p.T387T|TTN_uc002unb.2_Silent_p.T387T|TTN_uc010frg.1_Silent_p.T61T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	387							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)			CACCACTGATGGTCACTTGCT	0.557000														73			24		0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7698957	7698957	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:7698957G>A	uc003gkb.4	+	11	1624	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	SORCS2_uc011bwi.2_Missense_Mutation_p.E370K	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	542						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GGAATATAAAGAAGAAATGTA	0.547000														11			3		0	0	1	0	0
DHH	50846	broad.mit.edu	37	12	49483723	49483723	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49483723G>A	uc001rtf.3	-	2	1417	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L		NM_021044	NP_066382	O43323	DHH_HUMAN	Homo sapiens desert hedgehog (DHH), mRNA.	370					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						CCCCGCCGGGGAGCAGCGCCC	0.652000														6			3		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220466101	220466102	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220466101_220466102CC>TT	uc002vml.3	+	2	282_283	c.239_240CC>TT	c.(238-240)tcc>tTT	p.S80F	STK11IP_uc010zlj.2_Missense_Mutation_p.S69F|STK11IP_uc010zlk.2_Missense_Mutation_p.S69F|STK11IP_uc010zll.2_Missense_Mutation_p.S69F|STK11IP_uc002vmm.1_Missense_Mutation_p.S69F	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	80					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCCGACTCCCCTGTTATTC	0.569000														50			16		0	0	1	0	0
TPSB2	64499	broad.mit.edu	37	16	1279691	1279691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1279691C>T	uc002cky.3	-	2	132	c.109G>A	c.(109-111)Gcc>Acc	p.A37T	TPSB2_uc010brk.1_Non-coding_Transcript|TPSB2_uc002ckx.3_5'UTR	NM_024164	NP_077078	P20231	TRYB2_HUMAN	Homo sapiens tryptase beta 2 (gene/pseudogene) (TPSB2), mRNA.	37	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				CTCCTGGGGGCCTCCTGACCC	0.701000														56			14		0	0	1	0	0
ISG20L2	81875	broad.mit.edu	37	1	156697137	156697137	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156697137G>A	uc001fps.1	-	0	569	c.308C>T	c.(307-309)cCt>cTt	p.P103L	ISG20L2_uc001fpt.1_Missense_Mutation_p.P103L|RRNAD1_uc001fpu.3_5'Flank|RRNAD1_uc001fpv.3_5'Flank	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.	103					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGAAGGGGCAGGGGTCAACCA	0.517000											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			39		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880658	142880658	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142880658C>T	uc011ksw.2	+	0	147	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	49					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TCATTGGTATCATTGCAAATG	0.408000														45			31		0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86523440	86523440	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:86523440G>A	uc004ana.3	-	2	570	c.426C>T	c.(424-426)gaC>gaT	p.D142D	KIF27_uc010mpw.3_Silent_p.D142D|KIF27_uc010mpx.3_Silent_p.D142D	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	142	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E141K(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GATCTCTTAGGTCTTCCTTGT	0.363000														112			32		0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31155072	31155072	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31155072C>T	uc002ebd.3	-	6	866	c.807G>A	c.(805-807)cgG>cgA	p.R269R	PRSS36_uc010vff.2_Silent_p.R44R|PRSS36_uc010vfg.2_Silent_p.R269R|PRSS36_uc010vfh.2_Silent_p.R269R	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	269	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GGCGGTTTCTCCGTCCACAGC	0.612000														53			16		0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58512360	58512360	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58512360C>T	uc003dkl.3	-	9	1354	c.1179G>A	c.(1177-1179)atG>atA	p.M393I		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	393					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCATGGCCTTCATGCCCGTGC	0.607000														57			8		0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169622102	169622102	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169622102G>A	uc002uec.1	+	9	970	c.846_splice	c.e9-1	p.W282_splice	CERS6_uc002ueb.1_Splice_Site_p.W282_splice	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	282	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TTTTCCTTAGGGTGTTAAATA	0.418000														76			23		0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16745363	16745363	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:16745363C>T	uc010exm.2	-	4	341	c.193_splice	c.e4-1	p.A65_splice	FAM49A_uc002rck.2_Splice_Site_p.A65_splice	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	65						intracellular		p.?(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TTTGAATTGCCTGCAAAAACA	0.373000														39			10		0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86772975	86772975	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:86772975C>T	uc004efa.2	+	0	261	c.79C>T	c.(79-81)Caa>Taa	p.Q27*	KLHL4_uc004efb.2_Nonsense_Mutation_p.Q27*	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	27						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TCATCCTTTTCAAGGTTCCAC	0.493000														22			46		0	0	1	0	0
ANKRD7	56311	broad.mit.edu	37	7	117874902	117874902	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:117874902G>A	uc003vji.3	+	2	615	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.	148					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GCTTGAATACGAAGCTGATCT	0.333000														45			10		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8601135	8601135	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8601135C>T	uc002mkg.3	-	19	2181	c.2043_splice	c.e19+1	p.S681_splice		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	681						unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AACACACTCACCGACTCTGGG	0.567000														102			16		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36230381	36230381	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:36230381G>A	uc003gsq.2	-	1	1066	c.728C>T	c.(727-729)tCc>tTc	p.S243F	ARAP2_uc003gsr.1_Missense_Mutation_p.S243F	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	243					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						AAAGAATGGGGATGGTGGTGA	0.393000														110			49		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325888	31325888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:31325888C>T	uc010dmg.1	+	11	6131	c.6076C>T	c.(6076-6078)Cct>Tct	p.P2026S	ASXL3_uc002kxq.2_Missense_Mutation_p.P1733S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	2026	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						tccccctccccctccaccctt	0.592000														11			6		0	0	1	0	0
FCGR2C	9103	broad.mit.edu	37	1	161569686	161569686	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161569686G>A	uc021pdi.1	+	6		c.1164G>A				NM_201563				Homo sapiens Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) (FCGR2C), mRNA.											lung(2)	2	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			aatggagactggaaaaattcc	0.383000														25			11		0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33650113	33650113	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:33650113G>A	uc021wvc.1	-	13	1608	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	CLASP2_uc021wvb.1_Missense_Mutation_p.S232L|CLASP2_uc021wvd.1_Missense_Mutation_p.S465L|CLASP2_uc003cfv.3_Missense_Mutation_p.S238L|CLASP2_uc011axu.1_Missense_Mutation_p.S242L|CLASP2_uc003cfw.2_Missense_Mutation_p.S238L|CLASP2_uc011axt.1_Missense_Mutation_p.S40L	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	466										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AAATTCAAATGAACGTCTGAA	0.343000														18			9		0	0	1	0	0
VPS37D	155382	broad.mit.edu	37	7	73085400	73085400	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:73085400C>T	uc003tyr.3	+	3	565	c.450C>T	c.(448-450)gcC>gcT	p.A150A		NM_001077621	NP_001071089	Q86XT2	VP37D_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog D (S. cerevisiae) (VPS37D), mRNA.	150	VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCCTGCCTGCCTTCCAGCGTG	0.706000														28			13		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42711363	42711363	+	Missense_Mutation	SNP	G	A	A	rs45590635		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:42711363G>A	uc021xxv.1	+	6	831	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	GHR_uc003jmt.3_Missense_Mutation_p.E225K|GHR_uc003jmu.3_Missense_Mutation_p.E225K|GHR_uc003jmv.2_Missense_Mutation_p.E225K|GHR_uc021xxw.1_Missense_Mutation_p.E225K|GHR_uc021xxx.1_Missense_Mutation_p.E225K|GHR_uc021xxy.1_Missense_Mutation_p.E225K|GHR_uc021xxz.1_Missense_Mutation_p.E225K|GHR_uc021xya.1_Missense_Mutation_p.E225K|GHR_uc021xyb.1_Missense_Mutation_p.E225K|GHR_uc021xyc.1_Missense_Mutation_p.E225K|GHR_uc011cpq.2_Missense_Mutation_p.E38K|GHR_uc021xyd.1_Missense_Mutation_p.E203K	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	225	Fibronectin type-III.				2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGTGGATAAGGAATATGAAGT	0.398000														171			26		0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157804377	157804377	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157804377C>T	uc001frk.4	-	3	681	c.538G>A	c.(538-540)Gga>Aga	p.G180R		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	180	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTCCCACATCCCAGCTGCCGG	0.587000														86			24		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10204902	10204902	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10204902C>T	uc002gmk.1	-	39	5876	c.5786G>A	c.(5785-5787)cGa>cAa	p.R1929Q		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1929					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCCACGTCTCGGCTCTTGGC	0.582000														140			17		0	0	1	0	0
GALNTL2	117248	broad.mit.edu	37	3	16217068	16217068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:16217068C>T	uc003car.4	+	0	885	c.410C>T	c.(409-411)gCt>gTt	p.A137V	GALNTL2_uc003caq.4_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	137						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A137fs*2(1)		NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						GACTGGGGGGCTGATGAGGAC	0.637000														22			16		0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71114247	71114247	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:71114247G>A	uc004agr.3	+	9	1813	c.1584G>A	c.(1582-1584)agG>agA	p.R528R		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	528					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GCTACGAGAGGGATCCCAGCG	0.577000														69			27		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53610870	53610870	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:53610870G>A	uc004dsp.3	-	41	5570	c.5168C>T	c.(5167-5169)cCt>cTt	p.P1723L	HUWE1_uc004dsn.3_Missense_Mutation_p.P548L	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1723					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TAGGGCCAAAGGGGTATCTAT	0.438000														33			53		0	0	1	0	0
SFXN2	118980	broad.mit.edu	37	10	104488271	104488271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104488271C>T	uc001kwb.2	+	3	582	c.416C>T	c.(415-417)tCc>tTc	p.S139F	SFXN2_uc001kwc.2_Non-coding_Transcript	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	Homo sapiens sideroflexin 2 (SFXN2), mRNA.	139					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AATGCGGCTTCCCCCACATCA	0.567000														72			37		0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34096010	34096010	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34096010C>T	uc021wco.1	+	31	7544	c.6897C>T	c.(6895-6897)acC>acT	p.T2299T	CEP250_uc010zve.2_Silent_p.T1667T	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	2299					G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	p.T2299T(2)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TGCGGAGTACCTTGGAGCAGG	0.567000														100			49		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61843365	61843366	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61843365_61843366CC>TT	uc001jky.3	-	32	4422_4423	c.4084_4085GG>AA	c.(4084-4086)gga>AAa	p.G1362K	ANK3_uc001jkw.3_Missense_Mutation_p.G496K|ANK3_uc009xpa.3_Missense_Mutation_p.G496K|ANK3_uc001jkx.3_Missense_Mutation_p.G540K|ANK3_uc010qih.2_Missense_Mutation_p.G1363K|ANK3_uc001jkz.4_Missense_Mutation_p.G1356K|ANK3_uc001jla.1_Missense_Mutation_p.G428K|ANK3_uc001jkv.3_5'Flank|ANK3_uc009xpb.1_5'Flank|ANK3_uc009xpc.1_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1362					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.G1362E(4)|p.G496E(2)		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						AATAGGTTTTCCTTCCAGAACC	0.297000														65			23		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286797	152286797	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152286797C>T	uc001ezu.1	-	2	601	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	189					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGTATTTTCAGTCTTGTTT	0.308000									Ichthyosis					80			9		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417464	150417464	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150417464C>T	uc003whq.3	+	2	512	c.372C>T	c.(370-372)ttC>ttT	p.F124F	GIMAP1-GIMAP5_uc022apw.1_Silent_p.F124F	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		TGGGTCGGTTCACCGCCCAGG	0.627000														39			16		0	0	1	0	0
CD81	975	broad.mit.edu	37	11	2416230	2416230	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:2416230C>T	uc001lwf.1	+	3	541	c.308C>T	c.(307-309)gCc>gTc	p.A103V		NM_004356	NP_004347	P60033	CD81_HUMAN	Homo sapiens CD81 molecule (CD81), mRNA.	103					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATCCTGTTTGCCTGTGAGGTG	0.662000														60			33		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6062186	6062186	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:6062186C>T	uc010idb.1	-	10	2095	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	JAKMIP1_uc010idc.1_Missense_Mutation_p.E352K|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Missense_Mutation_p.E537K|JAKMIP1_uc011bwc.2_Missense_Mutation_p.E372K|JAKMIP1_uc003giv.4_Missense_Mutation_p.E537K|JAKMIP1_uc010ide.3_Missense_Mutation_p.E537K	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	537	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCAAATCTTCGATTTTGGCC	0.532000														118			62		0	0	1	0	0
ESRRA	2101	broad.mit.edu	37	11	64074765	64074765	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64074765C>T	uc001nzq.1	+	1	291	c.114C>T	c.(112-114)gcC>gcT	p.A38A	ESRRA_uc001nzr.1_Silent_p.A38A|ESRRA_uc001nzs.1_Silent_p.A38A	NM_004451	NP_004442	P11474	ERR1_HUMAN	Homo sapiens estrogen-related receptor alpha (ESRRA), mRNA.	38	Repressor domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TGGCCCTGGCCCCTGGTCCAG	0.667000														30			14		0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49391246	49391246	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49391246G>A	uc002pkz.2	-	7	1060	c.909C>T	c.(907-909)ccC>ccT	p.P303P		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	303					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GGTAGTAGAGGGGGAACAAGC	0.612000														61			18		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974808	20974808	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20974808G>A	uc010vbe.2	-	52	10398	c.10398C>T	c.(10396-10398)ttC>ttT	p.F3466F	DNAH3_uc010vbd.2_Silent_p.F901F	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3466					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCCTTGAGAGAACTTCCAAG	0.522000														55			5		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46308052	46308052	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46308052C>T	uc002pdm.3	-	2	1282	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	RSPH6A_uc002pdl.3_Missense_Mutation_p.E107K	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	371	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						acctcctcctcctctgcctcc	0.652000														22			7		0	0	1	0	0
BC039000	0	broad.mit.edu	37	10	42928724	42928724	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:42928724G>A	uc001izx.3	-	3		c.777C>T								Homo sapiens cyclin Y-like 2, mRNA (cDNA clone IMAGE:4704933), with apparent retained intron.																		ATTGTAAGATGAGGCTGGCTG	0.393000														58			29		0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2880270	2880270	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2880270G>A	uc002cru.3	+	0	98	c.22G>A	c.(22-24)Gag>Aag	p.E8K		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.	8						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						GGGGGCCCAGGAGAGTATAAA	0.677000														14			8		0	0	1	0	0
OR56B4	196335	broad.mit.edu	37	11	6129180	6129180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6129180G>A	uc010qzx.2	+	0	172	c.172G>A	c.(172-174)Gag>Aag	p.E58K		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTCAACATGAGACCGTGCT	0.522000														44			23		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341592	121341592	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121341592C>T	uc003eeg.2	+	2	1526	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	439					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAACAGTTTTCCTCTGGGACA	0.522000														97			29		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23865591	23865591	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23865591C>T	uc001wjv.3	-	19	2402	c.2331G>A	c.(2329-2331)gaG>gaA	p.E777E		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	777	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			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)		CATCCCGCATCTCCTCCAGCA	0.607000														55			5		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123039618	123039618	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:123039618C>T	uc003egh.2	-	9	2089	c.2089_splice	c.e9-1	p.G697_splice	ADCY5_uc021xdd.1_Splice_Site_p.G347_splice|ADCY5_uc003egg.2_Splice_Site_p.G330_splice|ADCY5_uc003egi.1_Splice_Site_p.G256_splice	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	697					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCTTCAAAGCCCTagaagaga	0.473000														27			8		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14857684	14857684	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:14857684C>T	uc003zlm.3	-	5	1511	c.695G>A	c.(694-696)aGc>aAc	p.S232N	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	232					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.S232T(2)|p.G231E(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CACTTTGAGGCTTCCTATTTT	0.463000														48			8		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898953	36898953	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36898953G>A	uc003cgj.3	-	11	2376	c.2128C>T	c.(2128-2130)Ctt>Ttt	p.L710F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	710					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GAGCTCTGAAGACAGTCCTCT	0.557000														50			18		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128642808	128642808	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:128642808G>A	uc010sbu.2	+	3	860	c.517G>A	c.(517-519)Gag>Aag	p.E173K	FLI1_uc010sbt.2_Intron|FLI1_uc010sbv.2_Missense_Mutation_p.E140K|FLI1_uc009zci.3_Missense_Mutation_p.E107K	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	173	PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AATGAACAAGGAGGACTTCCT	0.522000			T	EWSR1	Ewing sarcoma									141			47		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107734	55107734	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55107734C>T	uc002qgh.1	+	6	1221	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*	LILRA1_uc010yfg.1_Nonsense_Mutation_p.Q345*|LILRA1_uc010yfh.2_Nonsense_Mutation_p.Q347*	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	347	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTGCTGTGTCAGTCATGGGG	0.592000														86			27		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87082389	87082389	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87082389G>A	uc003uiv.1	-	5	483	c.407C>T	c.(406-408)tCa>tTa	p.S136L	ABCB4_uc003uiw.1_Missense_Mutation_p.S136L|ABCB4_uc003uix.1_Missense_Mutation_p.S136L|ABCB4_uc003uiy.3_Missense_Mutation_p.S136L	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	136	ABC transmembrane type-1 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AGTCCAAAATGAAACTTGTAT	0.388000														90			35		0	0	1	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107019950	107019951	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:107019950_107019951GG>AA	uc003prj.3	-	8	1588_1589	c.1111_1112CC>TT	c.(1111-1113)cct>TTt	p.P371F	RTN4IP1_uc010kdd.3_3'UTR|RTN4IP1_uc003prk.3_Missense_Mutation_p.P271F	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	Homo sapiens reticulon 4 interacting protein 1 (RTN4IP1), nuclear gene encoding mitochondrial protein, mRNA.	371						mitochondrion	oxidoreductase activity|zinc ion binding	p.F370F(1)		breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TTTAGAAAAAGGAAAGGTTTGT	0.381000														46			24		0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070233	141070233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:141070233G>A	uc010ncq.3	+	3	1313	c.473G>A	c.(472-474)aGg>aAg	p.R158K						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																		AACGCTCCAAGGTCATCCTGT	0.607000														18			5		0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50293694	50293694	+	Missense_Mutation	SNP	C	T	T	rs137853226		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:50293694C>T	uc003cyq.1	+	4	656	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	GNAI2_uc003cyo.1_Missense_Mutation_p.R163C|GNAI2_uc003cyp.1_Missense_Mutation_p.R163C|GNAI2_uc010hlg.1_Missense_Mutation_p.R98C|GNAI2_uc011bdn.2_Missense_Mutation_p.R142C|GNAI2_uc003cyr.1_Missense_Mutation_p.R98C	NM_002070	NP_002061	P04899	GNAI2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA.	179					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.R179H(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GCTACGGACCCGCGTAAAGAC	0.592000														41			17		0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894012	78894012	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:78894012G>A	uc002bec.3	-	4	1473	c.972C>T	c.(970-972)ttC>ttT	p.F324F	CHRNA3_uc002beb.3_Silent_p.F324F|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	324					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTTGAGCACGAAGACGGTGA	0.522000														114			79		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192711531	192711531	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:192711531C>T	uc002utb.3	-	0	476	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	41						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TCTGTGTTCCCTAGGTTCAGG	0.612000														76			19		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81702170	81702170	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81702170C>T	uc001kbh.3	-	3	450	c.407G>A	c.(406-408)gGc>gAc	p.G136D		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	136	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding	p.P135S(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TCCTTTTGGGCCTGGCTTGCC	0.597000														39			19		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69416504	69416504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69416504C>T	uc021xov.1	-	4	1247	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	402					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GCAATGTTATCATGTTGATCC	0.448000														143			53		0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611578	42611578	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:42611578G>A	uc003xpj.3	-	4	1120	c.764C>T	c.(763-765)tCa>tTa	p.S255L	CHRNA6_uc011lcw.2_Missense_Mutation_p.S240L	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA.	255						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGTTAGAAATGAAATAAAGAG	0.378000														63			7		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43412005	43412005	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43412005C>T	uc002ovj.1	-	4	806	c.707_splice	c.e4-1	p.P236_splice	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Splice_Site_p.P76_splice|PSG4_uc002ovg.1_Splice_Site_p.P236_splice	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	237					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGGGCAGCTTCGCTGTGTGGA	0.493000														182			77		0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5204841	5204841	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:5204841C>T	uc009xhz.2	-	1		c.319G>A								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TATTTCCTCTCTCTTGACGGT	0.423000														175			50		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98808818	98808818	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98808818G>A	uc001kmw.2	-	13	1611	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	SLIT1_uc009xvh.1_Silent_p.F463F	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	453	LRRCT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGGTGCGCAGGAAGTCTGCCA	0.587000														77			26		0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003147	50003147	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:50003147C>T	uc010ria.2	-	0	925	c.891G>A	c.(889-891)agG>agA	p.R297R		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCCAAAGCTTCCTTATTGCAC	0.353000														33			10		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146997584	146997584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:146997584C>T	uc010jgo.1	-	17	2384	c.2236G>A	c.(2236-2238)Gag>Aag	p.E746K	JAKMIP2_uc003loq.1_Missense_Mutation_p.E746K|JAKMIP2_uc011dbx.1_Missense_Mutation_p.E704K|JAKMIP2_uc003lor.1_Missense_Mutation_p.E725K|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	746						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTCAGCTCCTCTTGCTGT	0.433000														83			24		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088210	17088210	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17088210G>A	uc002nfb.3	-	14	1899	c.1867C>T	c.(1867-1869)Cag>Tag	p.Q623*		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	576						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACTGCAAACTGAAGGCTGTCG	0.602000														72			28		0	0	1	0	0
REM1	28954	broad.mit.edu	37	20	30072045	30072045	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30072045G>A	uc002wwa.3	+	4	993	c.709G>A	c.(709-711)Gag>Aag	p.E237K	LINC00028_uc010ztn.1_5'Flank	NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	237					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity|calmodulin binding			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CGAGCTCTTCGAGGGCGTGGT	0.701000														13			6		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716834	13716834	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:13716834G>A	uc001rbt.2	-	12	3517	c.3338C>T	c.(3337-3339)cCg>cTg	p.P1113L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1113					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGAGCGGGGCGGTCGGCGACG	0.607000														46			21		0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532323	40532323	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:40532323C>T	uc003xnr.3	-	4	623	c.477G>A	c.(475-477)atG>atA	p.M159I	ZMAT4_uc003xns.3_Intron	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	159						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			GTTGCTGGGCCATCAGAGGGT	0.493000														204			46		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113950885	113950885	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113950885G>A	uc002tjc.3	+	7	2153	c.1970G>A	c.(1969-1971)cGa>cAa	p.R657Q	PSD4_uc002tjd.3_Missense_Mutation_p.R278Q|PSD4_uc002tje.3_Missense_Mutation_p.R628Q|PSD4_uc002tjf.3_Missense_Mutation_p.R278Q	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	657	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAACGGGAGCGAATCCTCTAC	0.607000														68			27		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888235	38888235	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38888235C>T	uc021wvy.1	-	25	5525	c.5326G>A	c.(5326-5328)Gga>Aga	p.G1776R		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1776					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GACAAGTCTCCATTGCAAAGA	0.532000														77			34		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20024478	20024478	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:20024478C>T	uc001umd.3	-	12	1020	c.809G>A	c.(808-810)aGa>aAa	p.R270K	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R159K|TPTE2_uc001ume.3_Missense_Mutation_p.R193K|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	270	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATCATAAGCTCTTTCACCTAA	0.294000														87			33		0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178846735	178846735	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:178846735G>A	uc001glz.3	+	8	1048	c.710G>A	c.(709-711)cGa>cAa	p.R237Q	RALGPS2_uc001gly.1_Missense_Mutation_p.R237Q|RALGPS2_uc010pnb.2_Missense_Mutation_p.R237Q	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	237	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AATATCCTTCGAATAATTTCT	0.333000														46			13		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9391729	9391729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9391729C>T	uc021wam.1	+	20	2024	c.2009C>T	c.(2008-2010)tCg>tTg	p.S670L	PLCB4_uc010gbw.1_Missense_Mutation_p.S670L|PLCB4_uc010gbx.3_Missense_Mutation_p.S682L|PLCB4_uc021wal.1_Missense_Mutation_p.S670L|PLCB4_uc002wnh.3_Missense_Mutation_p.S517L	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	670	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.S670L(2)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TATAATGGATCGTGCGGGTGA	0.363000														58			33		0	0	1	0	0
CXorf27	25763	broad.mit.edu	37	X	37850185	37850185	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:37850185C>T	uc004ddt.4	+	0	116	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_012274	NP_036406	O75409	HYPM_HUMAN	Homo sapiens chromosome X open reading frame 27 (CXorf27), mRNA.	31							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						CTAGGAGCTTCGTGGACCGCG	0.458000														28			5		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169826714	169826714	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169826714G>A	uc002ueo.1	-	14	1776	c.1650C>T	c.(1648-1650)acC>acT	p.T550T	ABCB11_uc010zda.1_5'UTR|ABCB11_uc010zdb.1_Silent_p.T26T	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	550	ABC transporter 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTCCAACAAGGGTGTCAAATT	0.463000														24			6		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220167069	220167069	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220167069C>T	uc002vkz.3	-	5	1025	c.784G>A	c.(784-786)Ggg>Agg	p.G262R	PTPRN_uc010zlc.2_Missense_Mutation_p.G172R|PTPRN_uc002vla.3_Missense_Mutation_p.G262R	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	262					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.G262E(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGAAGGTCCCCGTAGGAGTGG	0.632000														18			9		0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226564933	226564933	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:226564933G>A	uc001hqd.4	-	12	1988	c.1817C>T	c.(1816-1818)tCc>tTc	p.S606F		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	606					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		ATCCTCCTTGGACGGCATCTG	0.473000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						313			112		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371795	240371795	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240371795C>T	uc010pye.2	+	5	3920	c.3695C>T	c.(3694-3696)cCt>cTt	p.P1232L	FMN2_uc010pyd.2_Missense_Mutation_p.P1228L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1228	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCCTCCACCTGGGACAGGA	0.622000														28			15		0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16306646	16306646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:16306646C>T	uc003nbt.3	-	8	3333	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	ATXN1_uc010jpi.3_Missense_Mutation_p.E788K|ATXN1_uc010jpj.1_Non-coding_Transcript	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	788	Interaction with USP7.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AAAGGTGGTTCGTCTTCTGAC	0.547000														79			35		0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050127	84050127	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84050127G>A	uc002fhg.1	-	7	1159	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	387					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCCTCACCTGGGAAGATGAAG	0.567000														41			15		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56220307	56220307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56220307C>T	uc002qly.3	-	8	2975	c.2947G>A	c.(2947-2949)Gaa>Aaa	p.E983K		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	983						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ATCTTGTATTCCTCGTCAATC	0.488000														83			26		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94156635	94156635	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94156635C>T	uc001ybv.1	+	43	6993	c.6910C>T	c.(6910-6912)Cca>Tca	p.P2304S	UNC79_uc001ybs.1_Missense_Mutation_p.P2282S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2459						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						GATTGGATTTCCAGAGCAATC	0.453000														101			20		0	0	1	0	0
FAM116A	201627	broad.mit.edu	37	3	57620487	57620487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:57620487G>A	uc003dja.3	-	12	1213	c.1142C>T	c.(1141-1143)cCt>cTt	p.P381L		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	381										breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		AACCTGCTTAGGAATTTCACC	0.254000														21			7		0	0	1	0	0
SERPINA13	388007	broad.mit.edu	37	14	95111341	95111341	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:95111341G>A	uc001ydt.3	+	3	1161	c.1073G>A	c.(1072-1074)aGa>aAa	p.R358K						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						AGAACCTGCAGACTGGAGATG	0.502000														54			15		0	0	1	0	0
C3orf32	51066	broad.mit.edu	37	3	8673774	8673774	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:8673774C>T	uc011atg.2	-	4	401	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	C3orf32_uc003bqz.3_Missense_Mutation_p.E99K|C3orf32_uc003bqt.3_Missense_Mutation_p.E48K|C3orf32_uc003bqu.3_Missense_Mutation_p.E99K|C3orf32_uc003bqv.3_Missense_Mutation_p.E48K|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Missense_Mutation_p.E99K	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.	99								p.R120I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						ATCCTGGATTCACTAAAGGTC	0.413000														74			27		0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104902005	104902005	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:104902005G>A	uc001pim.4	-	3	340	c.340C>T	c.(340-342)Cct>Tct	p.P114S	CASP1_uc001pig.3_Missense_Mutation_p.P21S|CASP1_uc021qpq.1_Missense_Mutation_p.P93S|CASP1_uc021qpr.1_Missense_Mutation_p.P21S|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Missense_Mutation_p.P114S|CASP1_uc021qpt.1_Missense_Mutation_p.P21S|CASP1_uc010rve.2_Missense_Mutation_p.P114S|CASP1_uc010rvf.2_Missense_Mutation_p.P21S|CASP1_uc010rvg.2_Missense_Mutation_p.P93S|CASP1_uc010rvh.2_Missense_Mutation_p.P21S|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Missense_Mutation_p.P93S|CASP1_uc021qpu.1_Missense_Mutation_p.P21S|CASP1_uc021qpv.1_Missense_Mutation_p.P93S|CASP1_uc021qpw.1_Missense_Mutation_p.P21S|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Missense_Mutation_p.P114S|CASP1_uc009yxj.3_Intron|CASP1_uc010rvk.2_Missense_Mutation_p.P75S|CASP1_uc010rvl.2_Missense_Mutation_p.P114S	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	114					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	ACTGCCTGAGGAGCTGCAAGA	0.483000														33			11		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18039118	18039118	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:18039118G>A	uc021trm.1	+	11	4795	c.4576G>A	c.(4576-4578)Gcc>Acc	p.A1526T	MYO15A_uc021trl.1_Missense_Mutation_p.A1524T	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1526	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTGCAGAAGGCCATCACCTT	0.592000														22			4		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160109743	160109744	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160109743_160109744CC>TT	uc001fvc.3	+	21	3135_3136	c.3003_3004CC>TT	c.(3001-3006)gtccga>gtTTga	p.R1002*	ATP1A2_uc001fvd.3_Nonsense_Mutation_p.R721*	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	1002					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R1002R(3)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ATGATGAGGTCCGAAAGCTCAT	0.579000														124			29		0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153430423	153430423	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153430423G>A	uc001fbv.1	-	2	236	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_002963	NP_002954	P31151	S10A7_HUMAN	Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.	55	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGACATCGGCGAGGTAATTTG	0.418000														100			26		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1086331	1086331	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1086331G>A	uc001lsx.1	+	22	3067	c.3040G>A	c.(3040-3042)Gag>Aag	p.E1014K		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1014	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGTGAGCAGCGAGCTGGACTT	0.647000														15			11		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213507	21213507	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21213507G>T	uc010bwn.1	-	10	1404	c.1322C>A	c.(1321-1323)tCc>tAc	p.S441Y	ZP2_uc002dii.2_Missense_Mutation_p.S402Y	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	402	ZP.				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)		AGGCTGGCAGGATGAGTTTCC	0.542000														39			12		7.03913e-09	7.06178e-09	1	1	0
OR51B4	79339	broad.mit.edu	37	11	5323135	5323135	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5323135G>A	uc010qza.2	-	0	42	c.42C>T	c.(40-42)ggC>ggT	p.G14G	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCCAAGAAGCCAGTCAGCA	0.463000											OREG0003718	type=REGULATORY REGION|Gene=OR51B4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		77			23		0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155649647	155649647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:155649647C>T	uc003faq.3	+	12	1989	c.1654C>T	c.(1654-1656)Cgc>Tgc	p.R552C	GMPS_uc011bom.2_Missense_Mutation_p.R453C	NM_003875	NP_003866	P49915	GUAA_HUMAN	Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.	552					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCTTATACCTCGCATGTGTCA	0.438000			T	MLL	AML									171			56		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48866231	48866231	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:48866231G>A	uc003xqi.3	-	6	727	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L	PRKDC_uc003xqj.3_Silent_p.L224L	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	224					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AACCCCTTCAGACATCCTGCC	0.388000								Non-homologous end-joining						20			6		0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67219760	67219760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67219760G>A	uc001olm.3	-	0	441	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	146						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGGGGCAGGCGGACTGGGCGG	0.701000														32			14		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068524	103068524	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103068524G>A	uc002tbx.3	+	11	2167	c.1683G>A	c.(1681-1683)gtG>gtA	p.V561V	IL18RAP_uc010fiz.3_Silent_p.V419V	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	561	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ACATGCCTGTGAAAAACTCTC	0.473000														144			71		0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919074	12919074	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12919074G>A	uc001aum.1	+	1	297	c.210G>A	c.(208-210)atG>atA	p.M70I		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	70										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TATCGCTGATGAAGACGCTTC	0.567000														295			87		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73128174	73128174	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:73128174G>A	uc010izf.3	+	9	1212	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	RGNEF_uc011csq.2_Missense_Mutation_p.D346N|RGNEF_uc003kcy.1_Missense_Mutation_p.D346N|RGNEF_uc021yam.1_Missense_Mutation_p.D346N|RGNEF_uc011csr.2_Missense_Mutation_p.D33N	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	346					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TCGCTCCTTCGATATCCTAAA	0.423000														24			5		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38876376	38876376	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38876376C>T	uc003jln.2	+	2	549	c.147C>T	c.(145-147)caC>caT	p.H49H	OSMR_uc003jlm.2_Silent_p.H49H	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	49					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AGAGTTTGCACTTACAATGGA	0.393000														83			18		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60814171	60814171	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:60814171G>A	uc010dds.3	-	6	1457	c.1172C>T	c.(1171-1173)tCa>tTa	p.S391L	MARCH10_uc010ddr.3_Missense_Mutation_p.S353L|MARCH10_uc002jag.4_Missense_Mutation_p.S353L|MARCH10_uc002jah.2_Missense_Mutation_p.S352L|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	353							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TATTCTCAATGAGCCATGACT	0.493000														108			50		0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62178550	62178550	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62178550G>A	uc002yfi.1	-	0	308	c.267C>T	c.(265-267)ttC>ttT	p.F89F		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	89	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCCTGCGTGCGAAGATGTAGC	0.672000														41			14		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983855	97983855	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:97983855G>A	uc003dsi.1	+	0	727	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TACAATCTTAGAAAAGAAGTC	0.343000														41			20		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114304291	114304291	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:114304291G>A	uc004bff.2	+	5	1300	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	359					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GAAAAGTCACGGAAATCTAAT	0.438000														66			40		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152520314	152520314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152520314C>T	uc021vrb.1	-	42	5540	c.5511G>A	c.(5509-5511)ctG>ctA	p.L1837L	NEB_uc002txu.3_Silent_p.L1837L|NEB_uc021vrc.1_Silent_p.L1837L|NEB_uc010fnx.3_Silent_p.L1837L|NEB_uc021vrd.1_Silent_p.L1837L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1837					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGTCATCTTCCAGGCTCCGGA	0.453000														70			22		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19236122	19236122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19236122C>T	uc002dfw.3	+	6	1521	c.1190C>T	c.(1189-1191)cCc>cTc	p.P397L	SYT17_uc002dfx.3_Missense_Mutation_p.P336L|SYT17_uc002dfy.3_Missense_Mutation_p.P393L	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	397	C2 2.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TTCAAAGTTCCCCAAGAAGAA	0.453000														75			24		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43596087	43596087	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:43596087G>A	uc001jal.3	+	1	444	c.254G>A	c.(253-255)tGg>tAg	p.W85*	RET_uc001jak.1_Nonsense_Mutation_p.W85*	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	85					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GAGAACAACTGGATCTGCATC	0.637000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					29			6		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94173221	94173221	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94173221G>A	uc001ybv.1	+	47	7497	c.7414G>A	c.(7414-7416)Gaa>Aaa	p.E2472K	UNC79_uc001ybs.1_Missense_Mutation_p.E2450K	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2627						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						CCAGTCCTCGGAAGCAGCCTC	0.527000														66			20		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53165751	53165751	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53165751C>T	uc001sax.3	-	5	1221	c.1167G>A	c.(1165-1167)agG>agA	p.R389R		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	389	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATCCCCATGCCTGCCAGCTG	0.507000														73			39		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849677	54849677	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54849677C>T	uc002qfj.3	-	2	402	c.345G>A	c.(343-345)ctG>ctA	p.L115L	LILRA4_uc002qfi.3_Silent_p.L49L	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	115	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTGTCACCACCAGCTCCAGGG	0.622000														67			16		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22294096	22294096	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22294096C>T	uc001wbw.2	+	1	209	c.200C>T	c.(199-201)tCc>tTc	p.S67F	TRA_uc021rpa.1_Intron|TCRA_uc010ais.1_Non-coding_Transcript					SubName: Full=Alpha-chain C region; Flags: Fragment;																		GGTCCTGTTTCCCTGACAATC	0.458000														100			54		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117235007	117235007	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:117235007G>A	uc003vjd.3	+	14	2646	c.2514G>A	c.(2512-2514)gaG>gaA	p.E838E	CFTR_uc011knq.2_Silent_p.E244E	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	838					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ATGATATGGAGAGCATACCAG	0.333000									Cystic Fibrosis					46			9		0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49055564	49055564	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49055564G>A	uc002pjl.3	+	0	136	c.55G>A	c.(55-57)Gac>Aac	p.D19N		NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	19					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		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;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CTATGAAGATGACATCTCGGA	0.672000														25			8		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41559882	41559882	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41559882G>A	uc002yyq.1	-	12	3038	c.2586C>T	c.(2584-2586)ttC>ttT	p.F862F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	862	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGCAGGAAAAGAAACCAGAAT	0.403000														55			20		0	0	1	0	0
YEATS4	8089	broad.mit.edu	37	12	69756579	69756579	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:69756579C>T	uc001sux.3	+	1	284	c.63C>T	c.(61-63)atC>atT	p.I21I		NM_006530	NP_006521	O95619	YETS4_HUMAN	Homo sapiens YEATS domain containing 4 (YEATS4), mRNA.	21					histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			GTGTTACTATCGTTAAACCAA	0.308000														60			21		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140730425	140730425	+	Missense_Mutation	SNP	G	A	A	rs36001111		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140730425G>A	uc003ljo.2	+	0	598	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.E200K	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	203	Cadherin 2.				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)			TCTAGACAGGGAACATCAGAG	0.493000														115			18		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88376921	88376921	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:88376921G>A	uc001tam.1	-	11	1346	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L		NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	393								p.P393S(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TTTTGAAAAAGGAATTCGTTT	0.259000														119			23		0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688082	55688082	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55688082C>T	uc010sph.2	-	0	935	c.935G>A	c.(934-936)aGa>aAa	p.R312K		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTAAAATGGTCTTTTAGAAAA	0.388000														24			15		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109686778	109686778	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:109686778C>T	uc004bcz.3	+	2	874	c.585C>T	c.(583-585)ccC>ccT	p.P195P	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.P43P|ZNF462_uc004bda.3_Silent_p.P43P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	195					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCACTGCTCCCCCACCTGCTC	0.512000														36			21		0	0	1	0	0
IKZF5	64376	broad.mit.edu	37	10	124755623	124755623	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124755623C>T	uc001lha.2	-	3	502	c.203G>A	c.(202-204)gGa>gAa	p.G68E		NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	Homo sapiens IKAROS family zinc finger 5 (Pegasus) (IKZF5), mRNA.	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TACTAACATTCCTGAGTTTTC	0.423000														76			31		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468689	56468689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:56468689G>A	uc021wzo.1	-	0	487	c.347C>T	c.(346-348)tCa>tTa	p.S116L	ERC2_uc003dhr.1_Missense_Mutation_p.S116L	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	116						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ATCTGTGTATGAAAGGACATC	0.512000														136			53		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79240035	79240035	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:79240035G>A	uc003hlb.2	+	17	2472	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	FRAS1_uc003hkw.3_Missense_Mutation_p.E678K|FRAS1_uc003hky.1_Missense_Mutation_p.E382K|FRAS1_uc003hkz.3_Missense_Mutation_p.E382K|FRAS1_uc003hla.1_Missense_Mutation_p.E189K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	678					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAAGCCAGAGGAAGGACTGCA	0.527000														70			37		0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150869196	150869196	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:150869196C>T	uc022cgt.1	+	3	436	c.387C>T	c.(385-387)ctC>ctT	p.L129L	PRRG3_uc004few.2_Silent_p.L129L	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	129						extracellular region|integral to membrane	calcium ion binding	p.T128S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGCACACCCTCCCCCGGGTCA	0.652000														25			43		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3658723	3658723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:3658723C>T	uc003smx.3	+	1	449	c.310C>T	c.(310-312)Cca>Tca	p.P104S		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	104	Ig-like C2-type 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGATGTTGCTCCATATTTTAA	0.398000														18			6		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060399	111060399	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111060399C>T	uc001dzt.1	-	0	1399	c.1011G>A	c.(1009-1011)ctG>ctA	p.L337L		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	337						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TCAGGATGGCCAGGGACATGT	0.547000														142			43		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169539831	169539831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:169539831C>T	uc003fgb.3	+	0	122	c.122C>T	c.(121-123)cCt>cTt	p.P41L		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	41										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACTGCCATTCCTTTGGAGATC	0.383000														84			35		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18462396	18462396	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:18462396C>T	uc003cbh.3	-	1	1799	c.64G>A	c.(64-66)Gat>Aat	p.D22N	SATB1_uc003cbi.3_Missense_Mutation_p.D22N|SATB1_uc003cbj.3_Missense_Mutation_p.D22N	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	22					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						CCCTTCGGATCACTCACATTG	0.498000														122			64		0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140442	178140442	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178140442G>A	uc003mjj.3	-	4	635	c.437C>T	c.(436-438)tCa>tTa	p.S146L		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	146					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		GTGGGTGGCTGAAACTATCTG	0.363000														126			69		0	0	1	0	0
EFCAB1	79645	broad.mit.edu	37	8	49643999	49643999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:49643999C>T	uc003xqo.2	-	1	282	c.122G>A	c.(121-123)aGg>aAg	p.R41K	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Intron|EFCAB1_uc010lxx.2_Intron|EFCAB1_uc011ldk.1_Intron	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	Homo sapiens EF-hand calcium binding domain 1 (EFCAB1), transcript variant 1, mRNA.	41							calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CAGACCTTGCCTCTCTACTCC	0.358000														48			13		0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101776545	101776545	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:101776545C>T	uc001pgl.3	-	3	871	c.275G>A	c.(274-276)aGa>aAa	p.R92K		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	92					signal transduction	extracellular space	receptor binding	p.R92I(2)		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)		TTTGGTACTTCTTGTGTAGGA	0.274000														46			13		0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74692164	74692164	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:74692164C>T	uc001jte.1	+	8	1738	c.1520C>T	c.(1519-1521)tCc>tTc	p.S507F	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	507	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GACGAGCGTTCCCGCTGTGCC	0.582000														157			56		0	0	1	0	0
WT1-AS	51352	broad.mit.edu	37	11	32460452	32460452	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:32460452G>A	uc021qfr.1	+	0		c.978G>A			WT1-AS_uc010rec.2_Non-coding_Transcript|WT1-AS_uc010red.2_Non-coding_Transcript					Homo sapiens Wilms tumor upstream neighbor 1, mRNA (cDNA clone IMAGE:3633024).											endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						ACAGCCCCTGGAAAACCATGT	0.537000														23			11		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107041010	107041010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:107041010G>A	uc010ywi.1	-	19	3470	c.3413C>T	c.(3412-3414)tCt>tTt	p.S1138F		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1138	RanBD1 1.				intracellular transport		binding	p.S1138Y(3)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ATCACCATCAGAGAAATCACT	0.448000														127			84		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2855543	2855544	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2855543_2855544GG>AA	uc022aqr.1	-	53	8756_8757	c.8366_8367CC>TT	c.(8365-8367)ccc>cTT	p.P2789L	CSMD1_uc011kwj.2_Missense_Mutation_p.P2119L|CSMD1_uc010lrg.3_Missense_Mutation_p.P800L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2790	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCGACACGTGGGCAGAGGGCT	0.550000														29			9		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35084740	35084740	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35084740C>T	uc003jjm.3	-	5	763	c.204_splice	c.e5-1	p.G68_splice	PRLR_uc003jjk.1_Splice_Site|PRLR_uc003jjg.2_Splice_Site_p.G68_splice|PRLR_uc003jjh.2_Splice_Site_p.G68_splice|PRLR_uc003jji.2_Splice_Site|PRLR_uc003jjj.2_Splice_Site_p.G68_splice|PRLR_uc003jjl.4_Intron|PRLR_uc021xxl.1_Splice_Site_p.G68_splice|PRLR_uc010iuw.1_Splice_Site	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	68	Fibronectin type-III 1.				T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATGAGTGTCTCTCTGCAATAA	0.408000														59			22		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999549	46999549	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:46999549C>T	uc001jec.3	+	2	804	c.669C>T	c.(667-669)acC>acT	p.T223T	GPRIN2_uc021ppt.1_Silent_p.T223T	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	223										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGCTGGCTACCACCACCTGCC	0.637000														39			13		0	0	1	0	0
PSMD4	5710	broad.mit.edu	37	1	151238796	151238796	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151238796C>T	uc001exl.3	+	7	838	c.776C>T	c.(775-777)gCc>gTc	p.A259V		NM_002810	NP_002801	P55036	PSMD4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4), mRNA.	259					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCAGACGATGCCCTGCTGAAG	0.547000														133			54		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48370644	48370644	+	Missense_Mutation	SNP	G	A	A	rs138519620	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48370644G>A	uc001jex.3	+	1	274	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	ZNF488_uc021ppx.1_Missense_Mutation_p.E38K	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S37R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GCGACTTAGCGAACCTGAGCT	0.667000														92			38		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141520	63141520	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63141520C>T	uc001nww.3	+	3	1084	c.816C>T	c.(814-816)atC>atT	p.I272I	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.	272					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ACTTTGTGATCTTTCTGACCT	0.428000														30			9		0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925637	27925637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:27925637C>T	uc011dkx.2	+	0	619	c.619C>T	c.(619-621)Cat>Tat	p.H207Y		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAGCTCTTCCATCTAATACC	0.428000														228			42		0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6733289	6733289	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6733289G>A	uc002mfp.3	-	8	793	c.747C>T	c.(745-747)ccC>ccT	p.P249P	GPR108_uc010duv.3_5'Flank	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	249						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GGAAGCCATCGGGGTTCTTCT	0.657000														38			19		0	0	1	0	0
TBCCD1	55171	broad.mit.edu	37	3	186272334	186272334	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:186272334G>A	uc003fqg.3	-	5	1382	c.1253C>T	c.(1252-1254)cCt>cTt	p.P418L	TBCCD1_uc011bry.2_Missense_Mutation_p.P418L|TBCCD1_uc003fqh.3_Missense_Mutation_p.P322L	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.	418	C-CAP/cofactor C-like.				cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TGTATGAAAAGGGGCAAAAGT	0.468000														41			13		0	0	1	0	0
CDKL1	8814	broad.mit.edu	37	14	50844978	50844978	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:50844978C>T	uc010anu.2	-	8	1271	c.1271G>A	c.(1270-1272)gGa>gAa	p.G424E	CDKL1_uc001wxz.3_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.	0						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					taccccacctccttctagggc	0.498000														21			21		0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51464813	51464813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:51464813C>T	uc001wyx.4	-	6	2323	c.1558G>A	c.(1558-1560)Gga>Aga	p.G520R	TRIM9_uc001wyy.2_Missense_Mutation_p.G516R|TRIM9_uc001wyz.4_Missense_Mutation_p.G520R	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	520	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GGGCTGACTCCTGTTTTGTTG	0.537000														50			10		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152786560	152786560	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:152786560C>T	uc021zhb.1	-	15	1988	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	SYNE1_uc003qot.4_Missense_Mutation_p.E596K|SYNE1_uc003qou.4_Missense_Mutation_p.E589K|SYNE1_uc010kjb.1_Missense_Mutation_p.E572K|SYNE1_uc003qpa.1_Missense_Mutation_p.E589K|SYNE1_uc003qow.3_5'Flank|SYNE1_uc003qox.1_Missense_Mutation_p.E105K|SYNE1_uc003qoz.2_Missense_Mutation_p.E21K|SYNE1_uc003qoy.2_Missense_Mutation_p.E156K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	589					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCGGTGGTTTCATTCATGAAT	0.398000										HNSCC(10;0.0054)				19			19		0	0	1	0	0
SPRYD7	57213	broad.mit.edu	37	13	50505152	50505152	+	Splice_Site	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:50505152A>G	uc001vdl.2	-	2	477	c.223_splice	c.e2+1	p.G75_splice	SPRYD7_uc001vdm.2_Intron|SPRYD7_uc010tgm.1_Intron|SPRYD7_uc010adj.3_Splice_Site_p.G75_splice	NM_020456	NP_065189	Q5W111	SPRY7_HUMAN	Homo sapiens SPRY domain containing 7 (SPRYD7), transcript variant 1, mRNA.	75	B30.2/SPRY.									haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						CATTATACCAACCTGTGGACT	0.313000														49			15		0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877742	2877742	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:2877742G>A	uc002lwp.1	+	3	873	c.786G>A	c.(784-786)aaG>aaA	p.K262K	ZNF556_uc002lwq.3_Silent_p.K261K	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		ATGAGTGCAAGCACTGTGGGA	0.537000														42			17		0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20181561	20181561	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:20181561C>T	uc021qez.1	-	0	310	c.307G>A	c.(307-309)Gag>Aag	p.E103K	DBX1_uc021qey.1_Missense_Mutation_p.E104K	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	Homo sapiens developing brain homeobox 1 (DBX1), mRNA.	104					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						AACGTCGTCTCGCTGGCAGGG	0.677000														12			5		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958354	121958354	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:121958354G>A	uc003idq.1	-	3	1299	c.772C>T	c.(772-774)Cct>Tct	p.P258S		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	258										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTATCAGAAGGAAATCCAAAG	0.468000														44			23		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2408075	2408075	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:2408075G>A	uc001aji.1	+	0	322	c.48G>A	c.(46-48)gtG>gtA	p.V16V		NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	16	Necessary for plasma membrane localization (By similarity).				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			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)		AGGGAACGGTGGCCTGGCTGG	0.687000														10			7		0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446015	10446015	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:10446015G>A	uc003gmn.3	-	2	2425	c.1938C>T	c.(1936-1938)gtC>gtT	p.V646V	ZNF518B_uc021xme.1_Silent_p.V646V	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGCCCTCGGGGACATTTTCAG	0.408000														147			50		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151945426	151945426	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:151945426G>A	uc003wla.3	-	13	2312	c.2093C>T	c.(2092-2094)aCc>aTc	p.T698I		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	698					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGACACTAAGGTTTCTAGTGG	0.403000			N		medulloblastoma									75			27		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6125817	6125817	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6125817G>A	uc001qnn.1	-	29	5426	c.5176C>T	c.(5176-5178)Cgt>Tgt	p.R1726C	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1726	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	p.R1726S(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGAGTGAGACGAGGCCCTAAA	0.527000														68			22		0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28136759	28136760	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:28136759_28136760GG>AA	uc001url.4	-	4	1323_1324	c.1014_1015CC>TT	c.(1012-1017)ttccaa>ttTTaa	p.Q339*	LNX2_uc001urm.1_Nonsense_Mutation_p.Q339*	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	339	PDZ 2.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AGAGCCACTTGGAAAATCTCTT	0.485000														92			31		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533860	92533860	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92533860G>A	uc001pdj.4	+	8	7698	c.7681G>A	c.(7681-7683)Gaa>Aaa	p.E2561K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2561	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTAGACCGGGAAAACCCTCT	0.468000										TCGA Ovarian(4;0.039)				26			11		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179562606	179562606	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179562606G>A	uc010pnp.2	+	2	762	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	TDRD5_uc021pfm.1_Missense_Mutation_p.E82K|TDRD5_uc001gnf.2_Missense_Mutation_p.E82K|TDRD5_uc021pfn.1_Missense_Mutation_p.E82K	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	82	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CATTCCAGATGAATCTACCAA	0.373000														33			8		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61802491	61802491	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61802491C>T	uc001jky.3	-	42	13430	c.13092G>A	c.(13090-13092)acG>acA	p.T4364T	ANK3_uc001jkw.3_Silent_p.T988T|ANK3_uc009xpa.3_Silent_p.T987T|ANK3_uc001jkx.3_Silent_p.T1031T|ANK3_uc010qih.2_Silent_p.T1855T|ANK3_uc001jkz.4_Silent_p.T1848T|ANK3_uc001jkv.3_Silent_p.T387T	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4364					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						TTTCTTTCTTCGTTTTCACCT	0.398000														145			49		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047037	42047038	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:42047037_42047038GG>AA	uc001cgz.4	-	3	4644_4645	c.3431_3432CC>TT	c.(3430-3432)tcc>tTT	p.S1144F	HIVEP3_uc001cha.4_Missense_Mutation_p.S1144F|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1144					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGAGAAAAGGGAGACTGGTGG	0.584000														111			51		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262636	140262636	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140262636G>A	uc003lif.2	+	0	783	c.783G>A	c.(781-783)gtG>gtA	p.V261V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.V261V|PCDHAC2_uc003lid.3_Silent_p.V261V	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	276	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACATTAGTGATCAAGCTAA	0.423000														114			36		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26294333	26294333	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26294333G>A	uc003abz.1	+	28	4978	c.4728G>A	c.(4726-4728)agG>agA	p.R1576R	MYO18B_uc003aca.1_Silent_p.R1457R|MYO18B_uc010guy.1_Silent_p.R1458R|MYO18B_uc010guz.1_Silent_p.R1456R|MYO18B_uc011aka.1_Silent_p.R730R|MYO18B_uc011akb.1_Silent_p.R1089R	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1576	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						AACTGAAGAGGAAGTGCCACC	0.493000														72			28		0	0	1	0	0
LMO2	4005	broad.mit.edu	37	11	33880946	33880946	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:33880946C>T	uc001mve.3	-	2	872	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	LMO2_uc001mvc.3_Missense_Mutation_p.E138K|LMO2_uc001mvd.3_Missense_Mutation_p.E138K|LMO2_uc010rel.2_Missense_Mutation_p.E145K|LMO2_uc010rem.2_Missense_Mutation_p.E214K	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	Homo sapiens LIM domain only 2 (rhombotin-like 1) (LMO2), transcript variant 3, mRNA.	145	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding	p.E145K(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						ATGTCCTGTTCGCACACTATG	0.502000			T	TRD@	T-ALL									37			12		0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574492	22574492	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22574492C>T	uc002nqt.2	-	3	1667	c.1545G>A	c.(1543-1545)gaG>gaA	p.E515E		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TGTAGGGTTTCTCTCCAGTAT	0.393000														77			23		0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49067928	49067928	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:49067928C>T	uc004dnb.3	-	35	4209	c.4147G>A	c.(4147-4149)Gag>Aag	p.E1383K	CACNA1F_uc010nip.3_Missense_Mutation_p.E1372K	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1383		Calcium ion selectivity and permeability (By similarity).			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)	TGCCATGCCTCACCAGTGGCA	0.547000														17			16		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7678627	7678627	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7678627C>T	uc002giu.1	+	28	4802	c.4788C>T	c.(4786-4788)ttC>ttT	p.F1596F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1596	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACATTGACTTCCTCCACTCAG	0.547000														14			11		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52645297	52645297	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:52645297C>T	uc002xws.2	-	3	695	c.357G>A	c.(355-357)gtG>gtA	p.V119V	BCAS1_uc010zzb.1_Silent_p.V22V|BCAS1_uc010gim.2_Silent_p.V22V|BCAS1_uc002xwt.2_Silent_p.V119V|BCAS1_uc010gil.1_Silent_p.V119V|BCAS1_uc010zzc.2_Silent_p.V22V	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	119						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CATCAAGCTTCACTGATCCAA	0.537000														64			21		0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23428365	23428365	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:23428365G>A	uc002dlo.3	-	8	1412	c.1215C>T	c.(1213-1215)gcC>gcT	p.A405A		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	405					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		ATCTGTCAACGGCTGCAGACG	0.562000														50			13		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9374249	9374249	+	Silent	SNP	G	A	A	rs1129249		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9374249G>A	uc021wam.1	+	14	1353	c.1338G>A	c.(1336-1338)agG>agA	p.R446R	PLCB4_uc010gbw.1_Silent_p.R446R|PLCB4_uc010gbx.3_Silent_p.R446R|PLCB4_uc021wal.1_Silent_p.R446R|PLCB4_uc002wnh.3_Silent_p.R293R	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	446	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AACCAGGCAGGGCTTTGCCAT	0.453000											OREG0025771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			27		0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6333529	6333529	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6333529C>T	uc002mel.2	-	0	112	c.34G>A	c.(34-36)Gtg>Atg	p.V12M		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	12						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CACCAGTCCACCTCGGAGCTC	0.617000														12			6		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145567885	145567885	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:145567885G>A	uc003ijs.2	+	0	738	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	LOC646576_uc003ijq.2_5'Flank|HHIP_uc003ijr.2_Missense_Mutation_p.E20K	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	20						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGGCTTCTTTGAAGGAGATGC	0.597000														84			21		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45798932	45798932	+	Missense_Mutation	SNP	C	T	T	rs138507862		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45798932C>T	uc010gpt.1	+	7	1167	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	TRPM2_uc002zet.1_Missense_Mutation_p.S356L|TRPM2_uc002zeu.1_Missense_Mutation_p.S356L|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.S356L|TRPM2_uc002zex.1_Missense_Mutation_p.S142L	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	356						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GTGGAGGGCTCGGGCCGCGTG	0.642000														77			40		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94056942	94056942	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94056942C>T	uc003ung.1	+	48	3742	c.3271C>T	c.(3271-3273)Ccc>Tcc	p.P1091S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1091					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)	TTTGCAGGGCCCCCCTGGTCC	0.532000										HNSCC(75;0.22)				109			42		0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356289	37356289	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:37356289C>T	uc002xjc.3	+	1	848	c.585C>T	c.(583-585)gcC>gcT	p.A195A		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	195					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCTGCTGCGCCCCGCGCTTCC	0.637000														36			15		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54797988	54797988	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54797988G>A	uc001sga.3	-	14	1574	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	502					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						ACATGGCGGGGAAGATGGTGA	0.597000											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			18		0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128615974	128615975	+	Nonsense_Mutation	DNP	GG	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128615974_128615975GG>AT	uc010lly.2	-	16	2581_2582	c.2178_2179CC>AT	c.(2176-2181)taccac>taATac	p.726_727YH>*Y	TNPO3_uc010llx.2_Nonsense_Mutation_p.103_104YH>*Y|TNPO3_uc003vol.2_Nonsense_Mutation_p.692_693YH>*Y|TNPO3_uc010llz.2_Nonsense_Mutation_p.628_629YH>*Y|TNPO3_uc003vom.2_Nonsense_Mutation_p.626_627YH>*Y	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	692					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TGATGTACGTGGTACACATTCA	0.455000														49			19		0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887889	30887889	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:30887889C>T	uc003aid.2	-	9	943	c.843G>A	c.(841-843)acG>acA	p.T281T	SEC14L4_uc011akz.1_Silent_p.T281T|SEC14L4_uc003aie.2_Silent_p.T266T|SEC14L4_uc003aif.2_Silent_p.T227T	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	281	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CCACGGACCTCGTGTGCTCAT	0.622000														36			17		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43420354	43420354	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43420354C>T	uc002ovj.1	-	1	449	c.350G>A	c.(349-351)gGa>gAa	p.G117E	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.G117E	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	118	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGTGTAGGATCCTGCATCCTC	0.468000														310			156		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23219402	23219402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:23219402C>T	uc009vqj.1	+	6	1599	c.1454C>T	c.(1453-1455)gCc>gTc	p.A485V	EPHB2_uc001bge.3_Missense_Mutation_p.A485V|EPHB2_uc001bgf.3_Missense_Mutation_p.A485V|EPHB2_uc010odu.2_Missense_Mutation_p.A485V	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	485	Fibronectin type-III 2.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AACGCCACAGCCATAAAAAGC	0.602000														53			26		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9364963	9364963	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9364963C>T	uc021wam.1	+	10	984	c.969C>T	c.(967-969)ttC>ttT	p.F323F	PLCB4_uc010gbw.1_Silent_p.F323F|PLCB4_uc010gbx.3_Silent_p.F323F|PLCB4_uc021wal.1_Silent_p.F323F|PLCB4_uc002wnh.3_Silent_p.F170F	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	323	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CTCACTACTTCATCAGTTCTT	0.468000														94			36		0	0	1	0	0
SMOX	54498	broad.mit.edu	37	20	4162831	4162831	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:4162831C>T	uc002wkp.2	+	4	906	c.705C>T	c.(703-705)atC>atT	p.I235I	SMOX_uc010zqo.1_Silent_p.I212I|SMOX_uc002wkk.1_Silent_p.I235I|SMOX_uc002wkl.1_Silent_p.I235I|SMOX_uc002wkm.1_Silent_p.I235I|SMOX_uc002wkn.1_Intron|SMOX_uc002wko.1_Silent_p.I235I	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA.	235					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	ACCACATCATCCCCTCGGGCT	0.647000														42			28		0	0	1	0	0
CREB3L1	90993	broad.mit.edu	37	11	46334007	46334007	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:46334007G>A	uc021qil.1	+	5	1320	c.885G>A	c.(883-885)cgG>cgA	p.R295R	CREB3L1_uc021qik.1_Silent_p.R295R	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	295					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		AGAGAGTCCGGAGGAAAATCA	0.587000			T	FUS	myxofibrosarcoma									16			14		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148037913	148037913	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:148037913C>T	uc004fcp.3	+	10	2817	c.2338C>T	c.(2338-2340)Cct>Tct	p.P780S	AFF2_uc004fcq.3_Missense_Mutation_p.P770S|AFF2_uc004fcr.3_Missense_Mutation_p.P741S|AFF2_uc011mxb.2_Missense_Mutation_p.P745S|AFF2_uc004fcs.3_Missense_Mutation_p.P747S|AFF2_uc011mxc.2_Missense_Mutation_p.P421S	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	780					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACATTTTCACCTATTCCTGT	0.458000														40			26		0	0	1	0	0
TNFSF15	9966	broad.mit.edu	37	9	117552767	117552767	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117552767C>T	uc004bjh.3	-	3	837	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	TNFSF15_uc004bjg.3_Missense_Mutation_p.E182K	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	241					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GTTTTATCTTCTTTTGTGTAA	0.428000														121			33		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24576801	24576801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:24576801C>T	uc011djo.2	-	9	2029	c.1529G>A	c.(1528-1530)gGa>gAa	p.G510E	KIAA0319_uc011djp.2_Missense_Mutation_p.G465E|KIAA0319_uc003neh.1_Missense_Mutation_p.G510E|KIAA0319_uc011djq.1_Missense_Mutation_p.G501E|KIAA0319_uc011djr.1_Missense_Mutation_p.G510E|KIAA0319_uc010jpt.1_5'UTR	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	510	PKD 2.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTTAGTGGCTCCGTCCGAGTC	0.488000														314			32		0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3392325	3392325	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:3392325C>G	uc002qxm.1	+	1	1137	c.931C>G	c.(931-933)Ctt>Gtt	p.L311V	TRAPPC12_uc002qxn.1_Missense_Mutation_p.L311V|TRAPPC12_uc010ewm.1_Missense_Mutation_p.L311V	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.	311							binding										CGACGCCTGGCTTCCCGGCGA	0.672000														32			10		0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648700	62648700	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:62648700G>A	uc001jli.3	-	6	1164	c.726C>T	c.(724-726)gtC>gtT	p.V242V	RHOBTB1_uc009xpe.2_Silent_p.V180V|RHOBTB1_uc001jlh.3_Silent_p.V242V|RHOBTB1_uc001jlj.3_Silent_p.V242V|RHOBTB1_uc001jlk.3_Silent_p.V242V	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	242					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.P241L(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GAATTTTGATGACCGGTGGAG	0.498000														169			19		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192327	132192327	+	Missense_Mutation	SNP	G	A	A	rs151233036		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:132192327G>A	uc003vra.4	-	1	1355	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	PLXNA4_uc003vrc.2_Missense_Mutation_p.R376W|PLXNA4_uc003vrb.3_Missense_Mutation_p.R376W	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	376	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCCTCGCCCCGGTAACAAGAC	0.587000														87			7		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72349019	72349019	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72349019G>A	uc002jkm.4	+	14	2178	c.2040G>A	c.(2038-2040)ctG>ctA	p.L680L		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	680					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ATTCTGACCTGGAGAGTGTGA	0.597000														82			32		0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40768415	40768415	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:40768415G>A	uc001cfh.1	-	29	1782	c.1670C>T	c.(1669-1671)cCt>cTt	p.P557L	COL9A2_uc001cfi.1_Missense_Mutation_p.P376L	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	557	Triple-helical region 2 (COL2).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			AGGTCCTGGAGGACCCATCAT	0.701000														9			4		0	0	1	0	0
CXCR5	643	broad.mit.edu	37	11	118764606	118764606	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118764606G>A	uc001pue.4	+	1	529	c.353G>A	c.(352-354)gGg>gAg	p.G118E	CXCR5_uc001puf.3_Missense_Mutation_p.G73E	NM_001716	NP_116743	P32302	CXCR5_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 5 (CXCR5), transcript variant 1, mRNA.	118					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TGGGTCCTGGGGACCTTCCTC	0.617000														57			26		0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105190518	105190518	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:105190518C>T	uc003vda.1	+	7	1244	c.1013C>T	c.(1012-1014)gCt>gTt	p.A338V	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	338	RINT1/TIP20.				G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGTACTTGGCTCAAGTACTT	0.348000														63			24		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834025	61834025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61834025G>A	uc001jky.3	-	36	6952	c.6614C>T	c.(6613-6615)cCa>cTa	p.P2205L	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.	2205					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						GGTGGGCTTTGGTTCCAATTC	0.448000														94			33		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234581070	234581070	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234581070C>T	uc002vus.3	+	0	527	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.P164S	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	167					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTTCTCCCTCCCCTCCGTGGT	0.433000														195			69		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482830	76482830	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:76482830C>T	uc002fex.1	+	4	1057	c.918C>T	c.(916-918)ctC>ctT	p.L306L	CNTNAP4_uc002feu.1_Silent_p.L302L|CNTNAP4_uc002fev.1_Silent_p.L215L|CNTNAP4_uc010chb.1_Silent_p.L278L|CNTNAP4_uc002few.2_Silent_p.L278L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	303	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AATTCAATCTCATGAATCTTG	0.388000														12			9		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87241866	87241867	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:87241866_87241867CC>TT	uc003ydq.1	-	0	738_739	c.640_641GG>AA	c.(640-642)gga>AAa	p.G214K	SLC7A13_uc003ydr.1_Missense_Mutation_p.G214K	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	214						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TGCAAAATATCCTTGGAAGATG	0.366000														109			33		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55107474	55107474	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:55107474C>T	uc003dhf.3	+	35	3038	c.2990C>T	c.(2989-2991)tCc>tTc	p.S997F	CACNA2D3_uc003dhg.1_Missense_Mutation_p.S903F|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	997						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TCCAACAGGTCCTTTGTCATC	0.507000														47			18		0	0	1	0	0
TTC24	164118	broad.mit.edu	37	1	156555535	156555535	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156555535C>T	uc021pbf.1	+	8	1523	c.1487C>T	c.(1486-1488)tCg>tTg	p.S496L		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	Homo sapiens tetratricopeptide repeat domain 24 (TTC24), mRNA.	496							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGAATCATTCGCACCATCTA	0.512000														84			35		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81647354	81647354	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81647354C>T	uc001szl.1	+	14	1991	c.1900C>T	c.(1900-1902)Cga>Tga	p.R634*	ACSS3_uc001szm.1_Nonsense_Mutation_p.R633*|ACSS3_uc001szn.1_Nonsense_Mutation_p.R316*	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	634						mitochondrion	ATP binding|acetate-CoA ligase activity	p.R634*(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGCTGCTTTTCGAAATGCAGT	0.428000														93			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179638652	179638652	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179638652C>T	uc021vsy.1	-	30	7468	c.7243G>A	c.(7243-7245)Gaa>Aaa	p.E2415K	TTN_uc021vsz.1_Missense_Mutation_p.E2369K|TTN_uc021vta.1_Missense_Mutation_p.E2369K|TTN_uc021vtb.1_Missense_Mutation_p.E2369K|TTN_uc002unb.2_Missense_Mutation_p.E2415K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2415	Ig-like 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E2415Q(3)|p.E2369Q(3)		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)			GTCATGTCTTCAATGAGCAGC	0.478000														109			34		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115375563	115375563	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115375563C>T	uc001lal.3	-	26	3150	c.2986G>A	c.(2986-2988)Gaa>Aaa	p.E996K	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Missense_Mutation_p.E996K|NRAP_uc001lak.3_Missense_Mutation_p.E961K	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	996						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCTCCTTGTTCCCTGTATAAT	0.493000														18			8		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32813968	32813968	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:32813968C>T	uc001utx.3	+	45	7133	c.6637C>T	c.(6637-6639)Cat>Tat	p.H2213Y	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCGATACCTTCATGAAGCATA	0.428000														68			15		0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6587206	6587206	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:6587206G>A	uc003zkc.3	-	14	1978	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	595					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAAGCTCTCGGAAAAGCTGCT	0.413000														62			35		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169539941	169539941	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:169539941C>T	uc003fgb.3	+	0	232	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	78										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GGTCCTCTACCTGGATAAGAA	0.512000														93			43		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744734	70744734	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:70744734G>A	uc003xyl.3	-	1	882	c.175C>T	c.(175-177)Ccg>Tcg	p.P59S	SLCO5A1_uc010lzb.3_Missense_Mutation_p.P59S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.P59S|SLCO5A1_uc010lzc.2_Missense_Mutation_p.P59S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	59						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCAAAGGCCGGGTTGGCGTCT	0.652000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			8		0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73679447	73679447	+	Missense_Mutation	SNP	C	T	T	rs146910386	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:73679447C>T	uc001ouo.3	+	5	1415	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	222					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					GCTACACCCTCGCTTCCGCAG	0.562000														43			27		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215833488	215833488	+	Missense_Mutation	SNP	G	A	A	rs144770649	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:215833488G>A	uc002vew.3	-	37	5954	c.5734C>T	c.(5734-5736)Cgt>Tgt	p.R1912C	ABCA12_uc002vev.3_Missense_Mutation_p.R1594C|ABCA12_uc010zjn.2_Missense_Mutation_p.R839C	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1912					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATATCAAAACGAAGGTCTTTT	0.338000														152			41		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102714185	102714185	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102714185C>T	uc001phj.1	-	0	158	c.93G>A	c.(91-93)atG>atA	p.M31I		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	31					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GAACAAGGTTCATGCTGGTGT	0.488000														27			11		0	0	1	0	0
C4BPB	725	broad.mit.edu	37	1	207262917	207262917	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207262917G>A	uc009xcd.3	+	0	334	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	C4BPB_uc001hfi.3_Missense_Mutation_p.R14Q|C4BPB_uc001hfj.3_Missense_Mutation_p.R14Q|C4BPB_uc001hfl.3_Missense_Mutation_p.R14Q|C4BPB_uc001hfk.3_Missense_Mutation_p.R14Q|C4BPB_uc001hfm.3_Missense_Mutation_p.R14Q|C4BPB_uc010pse.1_Missense_Mutation_p.R5Q	NM_001017366	NP_001017366	P20851	C4BPB_HUMAN	Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA.	14					blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						GTTGCGTGGCGAGTTTCTGCT	0.478000														43			17		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23775187	23775187	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:23775187G>A	uc003sws.4	+	6	581	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	STK31_uc003swt.4_Missense_Mutation_p.E149K|STK31_uc011jze.2_Missense_Mutation_p.E172K|STK31_uc010kuq.3_Missense_Mutation_p.E149K	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	172							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTGATTTTTGAAAAGGAAAT	0.388000														102			40		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240976925	240976925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240976925C>T	uc001hyt.2	-	5	499	c.445G>A	c.(445-447)Gag>Aag	p.E149K	RGS7_uc010pyh.2_Missense_Mutation_p.E291K|RGS7_uc010pyj.1_Missense_Mutation_p.E233K|RGS7_uc001hyu.2_Missense_Mutation_p.E317K|RGS7_uc009xgn.1_Missense_Mutation_p.E264K|RGS7_uc001hyv.2_Missense_Mutation_p.E317K|RGS7_uc001hyw.2_Missense_Mutation_p.E317K	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	317					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TACCTTGCCTCAAGTTCCCAG	0.433000														35			15		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101818647	101818648	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:101818647_101818648CC>TT	uc004azb.1	+	34	3504_3505	c.3298_3299CC>TT	c.(3298-3300)ccc>TTc	p.P1100F		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	1100	Triple-helical region 8 (COL8).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G1099W(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GCCACCGGGGCCCCCGGGGCCA	0.624000														64			13		0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683114	50683114	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:50683114G>A	uc003paf.3	+	1	837	c.325G>A	c.(325-327)Gag>Aag	p.E109K	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	109							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCACCACGGGGAGCCCACCGA	0.627000														111			17		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040194	31040194	+	Missense_Mutation	SNP	C	T	T	rs142812385		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:31040194C>T	uc002nsu.1	+	3	3806	c.3668C>T	c.(3667-3669)tCa>tTa	p.S1223L	ZNF536_uc010edd.1_Missense_Mutation_p.S1223L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGACTGGTCTCACCTTTATCC	0.662000														42			26		0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7329881	7329881	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7329881C>T	uc002ggw.3	+	2	644	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	191						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GGAGGACAACCTGCCCTTCCC	0.602000														59			53		0	0	1	0	0
SYS1	90196	broad.mit.edu	37	20	43995655	43995655	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43995655C>T	uc021weh.1	+	4	614	c.371C>T	c.(370-372)gCc>gTc	p.A124V	SYS1_uc002xnv.3_Missense_Mutation_p.A124V|SYS1_uc002xnw.2_Intron|SYS1_uc010gha.3_Non-coding_Transcript|DBNDD2_uc002xnx.3_Intron	NM_001197129	NP_001184058	Q8N2H4	SYS1_HUMAN	Homo sapiens SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) (SYS1), transcript variant 3, mRNA.	124					protein transport	Golgi membrane|integral to membrane				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CTGGTCCAAGCCGTGTGCATT	0.562000														103			20		0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200813990	200813990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:200813990C>T	uc001gvl.3	+	8	1405	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	CAMSAP2_uc001gvk.3_Missense_Mutation_p.P368S|CAMSAP2_uc001gvm.3_Missense_Mutation_p.P368S	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	379						cytoplasm|microtubule	protein binding										TTCTGACTTCCCTTCAAGGTA	0.279000														68			11		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	629674	629674	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:629674C>T	uc003gap.3	+	2	680	c.627C>T	c.(625-627)ttC>ttT	p.F209F	PDE6B_uc003gao.4_Silent_p.F209F	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	209	GAF 1.				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						TTCAGGTGTTCTTGAAGTACC	0.507000														48			17		0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61459284	61459284	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61459284G>A	uc002ydm.3	+	16	859	c.856G>A	c.(856-858)Ggt>Agt	p.G286S		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	286	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGGCAGACCTGGTCCCAAGGG	0.642000														49			33		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34100769	34100769	+	Missense_Mutation	SNP	G	A	A	rs452752		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:34100769G>A	uc003oir.4	-	0	868	c.505C>T	c.(505-507)Ctt>Ttt	p.L169F	GRM4_uc011dsn.2_Missense_Mutation_p.L169F|GRM4_uc010jvh.3_Missense_Mutation_p.L169F|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_Missense_Mutation_p.L88F	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	169			L -> F (in dbSNP:rs452752).		activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AAGAGGCGAAGGATGTTGGCC	0.632000														29			17		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228473972	228473972	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228473972G>A	uc009xez.1	+	33	9242	c.9198G>A	c.(9196-9198)cgG>cgA	p.R3066R	OBSCN_uc001hsn.3_Silent_p.R3066R|OBSCN_uc001hsq.1_Silent_p.R322R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3066	Ig-like 30.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGACCCTGCGGCAGCTGGCGC	0.657000														8			3		0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83218214	83218215	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83218214_83218215GG>AA	uc002bit.3	-	8	1726_1727	c.1589_1590CC>TT	c.(1588-1590)ccc>cTT	p.P530L	CPEB1_uc002bir.3_Missense_Mutation_p.P395L|CPEB1_uc002bis.3_Missense_Mutation_p.P390L|CPEB1_uc010uod.2_Missense_Mutation_p.P239L|CPEB1_uc002biq.3_Missense_Mutation_p.P390L|CPEB1_uc010uoe.2_Missense_Mutation_p.P468L|CPEB1_uc002biu.3_Missense_Mutation_p.P492L|CPEB1_uc010uof.2_Missense_Mutation_p.P390L|CPEB1_uc002biv.3_Missense_Mutation_p.P465L|CPEB1_uc002bip.3_Missense_Mutation_p.P239L	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	470	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACTTACCAATGGGATACTTGTG	0.520000														55			17		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159654376	159654376	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:159654376C>T	uc010kjv.3	+	10	3032	c.2832C>T	c.(2830-2832)tcC>tcT	p.S944S	FNDC1_uc010kjw.1_Silent_p.S829S	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	944						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGTACTCCTCCCTGGCCTCCA	0.617000														14			9		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62045598	62045598	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62045598C>T	uc002jds.1	-	5	898	c.821G>A	c.(820-822)gGa>gAa	p.G274E		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	274					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCTCAGGTTTCCCATGAAGAG	0.562000														84			31		0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25620922	25620922	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:25620922C>T	uc003abp.1	+	2	140	c.92C>T	c.(91-93)tCg>tTg	p.S31L		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	31	Beta/gamma crystallin 'Greek key' 1.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CAAGGCCACTCGCATGAGCTC	0.547000														43			24		0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21329770	21329770	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21329770C>T	uc001req.4	+	4	524	c.420C>T	c.(418-420)tcC>tcT	p.S140S		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	140					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.S140F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CGACCTTATCCACTTGTTTAA	0.289000														94			23		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50405101	50405101	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:50405101C>T	uc003daq.3	-	26	2328	c.2290G>A	c.(2290-2292)Ggt>Agt	p.G764S	CACNA2D2_uc003dap.3_Missense_Mutation_p.G757S	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	764					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GTGATGCCACCGTCTGTGGCA	0.642000														36			19		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48704860	48704860	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:48704860G>A	uc001zwx.2	-	64	8527	c.8132C>T	c.(8131-8133)tCc>tTc	p.S2711F	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2711					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.S2711S(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCCTCTGGGGAGAGTGAATT	0.532000														144			59		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101510519	101510519	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:101510519G>A	uc010svm.1	+	24	3085	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	ANO4_uc001thw.2_Missense_Mutation_p.R803Q|ANO4_uc001thx.2_Missense_Mutation_p.R838Q|ANO4_uc001thy.2_Missense_Mutation_p.R358Q	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	838						chloride channel complex	chloride channel activity	p.Y838N(1)|p.R803Q(1)		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						TTTGAGAACCGATCTGAGCCT	0.507000										HNSCC(74;0.22)				139			62		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49823408	49823408	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:49823408C>T	uc002efs.3	-	2	364	c.66G>A	c.(64-66)gtG>gtA	p.V22V		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	22					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.S21S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTGCTGCTGTCACGGAGGAAT	0.572000														54			5		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32705812	32705812	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:32705812C>T	uc001utx.3	+	7	1216	c.720C>T	c.(718-720)ttC>ttT	p.F240F	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTCTTAGATTCCCTGCTGTAA	0.418000														47			10		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17468993	17468993	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17468993G>A	uc002zlw.3	-	2	651	c.543C>T	c.(541-543)tgC>tgT	p.C181C	GAB4_uc010gqs.1_Silent_p.C164C	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	181										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCTGATGGGAGCAGCTGGGCT	0.607000														21			13		0	0	1	0	0
IGH	0	broad.mit.edu	37	16	32070619	32070619	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:32070619C>T	uc002ecv.1	+	0		c.72C>T								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233.																		TGCAAGGCTTCTGGATACACC	0.537000														74			11		0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588686	72588686	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72588686G>A	uc002jla.1	+	2	863	c.501G>A	c.(499-501)ggG>ggA	p.G167G	CD300LD_uc002jkz.2_5'Flank|C17orf77_uc021ucq.1_Silent_p.G167G	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA.	167						extracellular region		p.G167G(2)		breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						GGAGCTGCGGGATCTACTGCC	0.597000														35			18		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180043925	180043925	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:180043925C>T	uc003mlz.4	-	21	3150	c.3071G>A	c.(3070-3072)gGg>gAg	p.G1024E	FLT4_uc003mma.4_Missense_Mutation_p.G1024E	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1024	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GAACTCCATCCCTCTGGCCAC	0.602000														70			26		0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38520723	38520723	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38520723C>T	uc003cif.3	+	5	795	c.771C>T	c.(769-771)ctC>ctT	p.L257L	ACVR2B_uc003cig.3_Silent_p.L48L	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	Homo sapiens activin A receptor, type IIB (ACVR2B), mRNA.	257	Protein kinase.				BMP signaling pathway|activin receptor signaling pathway|anterior/posterior pattern formation|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	ATP binding|activin receptor activity|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GCTCCAACCTCGAAGTAGAGC	0.557000														144			62		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8449744	8449744	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:8449744G>A	uc003zkk.3	-	33	4712	c.3969C>T	c.(3967-3969)cgC>cgT	p.R1323R	PTPRD_uc003zkp.3_Silent_p.R917R|PTPRD_uc003zkq.3_Silent_p.R916R|PTPRD_uc003zkr.3_Silent_p.R907R|PTPRD_uc003zks.3_Silent_p.R902R|PTPRD_uc022bdj.1_Silent_p.R913R	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1323					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1323C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAAAGTTAAGGCGCCTCAGTT	0.453000										TSP Lung(15;0.13)				126			16		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102709877	102709877	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102709877C>T	uc001phj.1	-	6	1098	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	DD413629_uc021qpi.1_5'Flank	NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	345	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CTAGTAACTTCATATGCGGCA	0.388000														103			36		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56663166	56663166	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56663166G>A	uc010dcz.2	-	17	3202	c.3084C>T	c.(3082-3084)ttC>ttT	p.F1028F	TEX14_uc002iwr.2_Silent_p.F1022F|TEX14_uc002iws.2_Silent_p.F1022F|TEX14_uc010dda.2_Silent_p.F802F	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	1028						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTTACTGGTGAAGCTTCCAA	0.517000														66			36		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49701640	49701640	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:49701640C>T	uc003jom.3	-	4	768	c.519G>A	c.(517-519)ggG>ggA	p.G173G	EMB_uc010ivq.3_5'Flank|EMB_uc003jol.3_Silent_p.G104G|EMB_uc011cpy.2_Silent_p.G123G	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	173	Ig-like V-type 2.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CAGTAGAATCCCCTACGTAAG	0.348000														53			32		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96021270	96021270	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:96021270C>T	uc004ati.1	+	10	2440	c.2440C>T	c.(2440-2442)Cct>Tct	p.P814S	WNK2_uc011lud.1_Missense_Mutation_p.P814S|WNK2_uc004atj.3_Missense_Mutation_p.P814S|WNK2_uc004atk.3_Missense_Mutation_p.P451S|WNK2_uc010mrc.1_Missense_Mutation_p.P762S	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	814					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CGACGGCCTCCCTCCGGCCCT	0.657000														60			21		0	0	1	0	0
AP1S2	8905	broad.mit.edu	37	17	58179669	58179669	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:58179669C>T	uc010wot.1	-	0	612	c.496G>A	c.(496-498)Gga>Aga	p.G166R		NM_003916	NP_003907	P56377	AP1S2_HUMAN	Homo sapiens adaptor-related protein complex 1, sigma 2 subunit (AP1S2), mRNA.	119					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|Golgi membrane|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane	protein transporter activity			large_intestine(1)	1	Hepatocellular(33;0.183)					ACTTCCCCTCCCAAAAGAAAC	0.378000														140			54		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37271804	37271804	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:37271804C>T	uc001caz.2	-	13	2350	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	GRIK3_uc001cba.1_Missense_Mutation_p.E739K	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	739					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTGGTGGACTCCATGAGCAGC	0.622000														88			23		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100190594	100190594	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100190594C>T	uc011kjz.1	+	4	929	c.861C>T	c.(859-861)atC>atT	p.I287I	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Silent_p.I235I|FBXO24_uc003uvm.1_Silent_p.I249I|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Silent_p.I237I|LOC100129845_uc022air.1_Non-coding_Transcript	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	249						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCAAGCAGATCGTGCTGGTTG	0.552000														50			7		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106967409	106967409	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106967409C>T	uc021ser.1	-	263		c.10091G>A								Parts of antibodies, mostly variable regions.																		AAAATCCCTTCCTCAGCCCTG	0.557000														69			23		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71163629	71163629	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71163629G>A	uc002ezr.3	-	8	1292	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	HYDIN_uc010cfz.2_Silent_p.L126L|HYDIN_uc021tkq.1_Silent_p.L381L|HYDIN_uc010vmc.2_Silent_p.L398L|HYDIN_uc010vmd.2_Silent_p.L408L|HYDIN_uc002ezw.4_Silent_p.L398L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	381										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)				GTTCGGGACAGAACAGAAAGA	0.458000														26			13		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94670698	94670698	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94670698C>T	uc001dqj.4	-	6	985	c.616G>A	c.(616-618)Gag>Aag	p.E206K	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.E206K	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	206					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAAGCCAGCTCGATAGAGTCA	0.338000														53			14		0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683765	159683765	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159683765C>T	uc001ftw.3	-	1	329	c.225G>A	c.(223-225)aaG>aaA	p.K75K	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_5'Flank	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	75	Pentaxin.			YSIFSYATKRQDNEIL -> TVFSRMPPRDKTMRFF (in Ref. 4; CAA39671).	acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	TGTCTTGTCTCTTGGTGGCAT	0.453000														84			24		0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182988250	182988250	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:182988250C>T	uc003flm.3	+	1	1187	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Missense_Mutation_p.R222C|B3GNT5_uc003fll.3_Missense_Mutation_p.R222C|B3GNT5_uc021xic.1_Missense_Mutation_p.R222C	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	222					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTGGATTGGTCGTGTTCATCG	0.423000														165			64		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535765	69535765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69535765G>A	uc021xow.1	-	0	730	c.572C>T	c.(571-573)cCt>cTt	p.P191L		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	191					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ATAGGAAGGAGGGAACAGAAA	0.368000														216			52		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566685	136566685	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136566685C>T	uc002tuu.1	-	7	3243	c.3232G>A	c.(3232-3234)Gaa>Aaa	p.E1078K		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1078	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGGGGAAATTCCCCTGAGCCA	0.507000														28			16		0	0	1	0	0
NCL	4691	broad.mit.edu	37	2	232320840	232320840	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:232320840G>A	uc002vru.3	-	11	1854	c.1713C>T	c.(1711-1713)tcC>tcT	p.S571S	SNORA75_uc002vrv.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	571					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		ACAGAGTTTTGGATGGCTCTG	0.438000														50			16		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16908679	16908680	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16908679_16908680CC>TT	uc002neu.4	+	15	3863_3864	c.3441_3442CC>TT	c.(3439-3444)tccctt>tcTTtt	p.L1148F	NWD1_uc002net.4_Missense_Mutation_p.L1013F|NWD1_uc002nev.4_Missense_Mutation_p.L942F|NWD1_uc021uqg.1_Missense_Mutation_p.L1013F	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1148							ATP binding	p.S1012S(1)|p.S1147S(1)		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						TCACGGGGTCCCTTGATGCGCT	0.520000														231			67		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641355	179641355	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179641355C>T	uc021vsy.1	-	27	5461	c.5236G>A	c.(5236-5238)Gaa>Aaa	p.E1746K	TTN_uc021vsz.1_Missense_Mutation_p.E1700K|TTN_uc021vta.1_Missense_Mutation_p.E1700K|TTN_uc021vtb.1_Missense_Mutation_p.E1700K|TTN_uc002unb.2_Missense_Mutation_p.E1746K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1746	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)			TTGGCTGCTTCAAGTGGCTTT	0.493000														50			15		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51375642	51375642	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:51375642G>A	uc001wyu.3	-	17	2336	c.2209C>T	c.(2209-2211)Cca>Tca	p.P737S	PYGL_uc010tqq.2_Missense_Mutation_p.P703S	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	737					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TTCAGCTCTGGAAGTGCCTCA	0.418000														113			37		0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28116381	28116381	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:28116381G>A	uc001zbh.4	-	20	2273	c.2163C>T	c.(2161-2163)ctC>ctT	p.L721L	OCA2_uc010ayv.3_Silent_p.L697L	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	721					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TGGCGGCTATGAGGCGCTGCT	0.577000									Oculocutaneous Albinism					51			19		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74635433	74635433	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74635433C>T	uc002axt.2	-	4	1030	c.875G>A	c.(874-876)gGa>gAa	p.G292E	CYP11A1_uc002axs.2_Missense_Mutation_p.G134E|CYP11A1_uc010bjm.1_Missense_Mutation_p.G134E|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Intron|CYP11A1_uc010ulj.1_Missense_Mutation_p.G72E	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	292					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GTGAACACTTCCTTTCTGTCT	0.517000														83			76		0	0	1	0	0
DCAF5	8816	broad.mit.edu	37	14	69558597	69558597	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:69558597G>A	uc001xkp.3	-	5	892	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	DCAF5_uc001xkq.3_Silent_p.L224L|DCAF5_uc001xkr.4_Silent_p.L225L	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	225						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CCATAGCGCAGGAGAGAACTG	0.542000														19			6		0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46915173	46915173	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46915173C>T	uc002pep.3	-	0	1747	c.895G>A	c.(895-897)Gct>Act	p.A299T		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	299						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTATCTGCAGCCTCTCCCCCC	0.647000														153			71		0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66083828	66083828	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66083828G>A	uc001ohm.1	-	0	688	c.671C>T	c.(670-672)tCa>tTa	p.S224L		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	224	Sushi.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CCCAGCCCGTGACCAGCCCAC	0.682000														56			15		0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40254023	40254023	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40254023C>T	uc001zkm.1	+	6	832	c.782C>T	c.(781-783)tCt>tTt	p.S261F	EIF2AK4_uc001zkl.3_Missense_Mutation_p.S261F|EIF2AK4_uc010bbj.1_5'UTR	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	261					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)		AGTGAAGATTCTCCTGGCTCT	0.323000														75			31		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324482	152324482	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152324482C>T	uc001ezw.4	-	2	5853	c.5780G>A	c.(5779-5781)gGa>gAa	p.G1927E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1927							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)			AGTGGTATCTCCTGTCTGTCC	0.502000														245			101		0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683778	159683778	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159683778G>A	uc001ftw.3	-	1	316	c.212C>T	c.(211-213)tCg>tTg	p.S71L	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_5'Flank	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	71	Pentaxin.			YSIFSYATKRQDNEIL -> TVFSRMPPRDKTMRFF (in Ref. 4; CAA39671).	acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	GGTGGCATACGAGAAAATACT	0.448000														72			27		0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156230268	156230268	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156230268G>A	uc001foc.4	-	14	2406	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	753					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AGCAGGGGCCGATCCGTGTCA	0.557000														142			16		0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44102468	44102468	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:44102468C>T	uc003owr.3	+	1	211	c.147C>T	c.(145-147)ttC>ttT	p.F49F	TMEM63B_uc003owq.1_Silent_p.F49F|TMEM63B_uc010jyy.1_5'UTR|TMEM63B_uc003ows.3_5'Flank	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	49						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTCTCGACTTCATGTGCTTCC	0.607000														66			27		0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665012	6665012	+	Silent	SNP	G	A	A	rs143839697		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6665012G>A	uc002mfk.2	-	4	1030	c.648C>T	c.(646-648)gtC>gtT	p.V216V	TNFSF14_uc002mfj.2_Silent_p.V180V	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	216					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	p.V216V(2)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GCACACGGACGACCACCTTCT	0.622000														83			39		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119978560	119978560	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:119978560G>C	uc010inb.3	+	4	3453	c.3257G>C	c.(3256-3258)aGt>aCt	p.S1086T	SYNPO2_uc011cgh.2_Missense_Mutation_p.V88L|SYNPO2_uc010inc.3_Missense_Mutation_p.S956T	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	716						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTTTAGGAGAGTGGGCGCTCC	0.408000														55			21		0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567368	5567368	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:5567368G>A	uc001iie.1	+	0	445	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	AK128534_uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	Homo sapiens calmodulin-like 3 (CALML3), mRNA.	107	EF-hand 3.						calcium ion binding			endometrium(3)|lung(2)	5						GCCGAGCTGCGACACGTCATG	0.647000														31			17		0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852698	15852698	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15852698C>T	uc010xoq.2	+	0	496	c.496C>T	c.(496-498)Cac>Tac	p.H166Y		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GATGGTTTTTCACCTCACTTT	0.502000														98			46		0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23758277	23758277	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:23758277C>T	uc001bha.2	-	22	2582	c.2458G>A	c.(2458-2460)Gag>Aag	p.E820K	ASAP3_uc001bgy.1_Missense_Mutation_p.E324K|ASAP3_uc010odz.1_Missense_Mutation_p.E710K|ASAP3_uc010oea.1_Missense_Mutation_p.E811K	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	820					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CGGAGGCCCTCTTCAGAGTTG	0.652000														107			46		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371472	48371472	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48371472G>A	uc001jex.3	+	1	1102	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	ZNF488_uc021ppx.1_Missense_Mutation_p.E314K	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GAAGCGGAGAGAAGAGGCCCT	0.597000														91			38		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1263213	1263213	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1263213G>A	uc002qwq.3	+	13	1206	c.1077_splice	c.e13+1	p.K359_splice	SNTG2_uc010ewi.3_Splice_Site_p.K232_splice	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	359	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAGTTCACAAGGTAGGTATCT	0.433000														38			16		0	0	1	0	0
CDX2	1045	broad.mit.edu	37	13	28542661	28542661	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:28542661C>T	uc001urv.3	-	0	657	c.483G>A	c.(481-483)caG>caA	p.Q161Q		NM_001265	NP_001256	Q99626	CDX2_HUMAN	Homo sapiens caudal type homeobox 2 (CDX2), mRNA.	161					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GGTTCCGCCGCTGGCCGCCGG	0.726000			T	ETV6	AML									23			4		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16360108	16360108	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16360108G>A	uc001axu.3	+	19	2099	c.2019G>A	c.(2017-2019)atG>atA	p.M673I	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.M630I|CLCNKA_uc001axv.3_Missense_Mutation_p.M672I|CLCNKA_uc021ogl.1_Intron	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	673	CBS 2.				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)	TGTTCTAGATGAAGAAAGCAA	0.552000														55			15		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203680140	203680140	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203680140C>T	uc001gzw.3	+	11	2832	c.1935C>T	c.(1933-1935)ttC>ttT	p.F645F	ATP2B4_uc001gzv.3_Silent_p.F645F|ATP2B4_uc009xaq.3_Silent_p.F645F	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	645					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.F645fs*18(3)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCGGGACTTCGATGACACAG	0.532000														94			36		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31572557	31572557	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:31572557G>A	uc002rnv.1	-	25	3043	c.2964C>T	c.(2962-2964)ttC>ttT	p.F988F		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	988					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTTACTTGTTGAACTTGTCAA	0.458000														121			57		0	0	1	0	0
UBAC2	337867	broad.mit.edu	37	13	99992680	99992680	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:99992680C>T	uc010tiu.2	+	6	1069	c.734C>T	c.(733-735)tCt>tTt	p.S245F	UBAC2_uc001voa.4_Missense_Mutation_p.S223F|UBAC2_uc001vob.4_Missense_Mutation_p.S196F|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Missense_Mutation_p.S110F|UBAC2_uc001voc.3_Missense_Mutation_p.S188F|UBAC2_uc010tiw.2_Non-coding_Transcript|MIR548AN_uc021rly.1_Intron|UBAC2_uc001voh.3_Missense_Mutation_p.S27F	NM_177967	NP_808882	Q8NBM4	UBAC2_HUMAN	Homo sapiens UBA domain containing 2 (UBAC2), transcript variant 2, mRNA.	223						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCCATCTTCTCTTCTTCAGAA	0.532000														109			12		0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54275341	54275341	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:54275341G>A	uc004dtc.2	-	16	3879	c.3440C>T	c.(3439-3441)tCc>tTc	p.S1147F	WNK3_uc004dtd.2_Missense_Mutation_p.S1147F	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	1147					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						TTCAGCAGAGGAAGAAAATGG	0.438000														53			40		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152524385	152524385	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152524385C>T	uc021vrb.1	-	37	4681	c.4652G>A	c.(4651-4653)gGc>gAc	p.G1551D	NEB_uc002txu.3_Missense_Mutation_p.G1551D|NEB_uc021vrc.1_Missense_Mutation_p.G1551D|NEB_uc010fnx.3_Missense_Mutation_p.G1551D|NEB_uc021vrd.1_Missense_Mutation_p.G1551D	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1551					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAAATCATAGCCCTTGGCAAT	0.333000														37			15		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90007990	90007991	+	RNA	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:90007990_90007991GG>AA	uc010yts.2	+	13		c.2278_2279GG>AA								Parts of antibodies, mostly variable regions.																		CAGAAACCAGGGAAAGTTCCTA	0.525000														91			38		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149516467	149516467	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149516467C>T	uc010lpk.3	+	83	11861	c.11861C>T	c.(11860-11862)cCt>cTt	p.P3954L	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3957	TSP type-1 17.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGTGGGAACCTTGCTCCCGC	0.701000														21			4		0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57009030	57009030	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:57009030G>A	uc002eki.2	+	9	1005	c.948G>A	c.(946-948)tgG>tgA	p.W316*	CETP_uc002ekj.2_Nonsense_Mutation_p.W256*	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	316					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TGGAGACCTGGGGCTTCAACA	0.537000														44			17		0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76128799	76128799	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:76128799C>T	uc003keo.3	+	1	542	c.367C>T	c.(367-369)Ctc>Ttc	p.L123F		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	123					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		GGCTGACCTCCTCTCTGTCAT	0.463000														290			70		0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49710967	49710967	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:49710967G>A	uc002itv.4	-	8	1588	c.852C>T	c.(850-852)atC>atT	p.I284I	CA10_uc002itw.4_Silent_p.I278I|CA10_uc002itx.4_Silent_p.I278I|CA10_uc002ity.4_Silent_p.I278I|CA10_uc002itz.2_Silent_p.I278I	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	278					brain development			p.D284N(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TGCTCAGAAAGATCTGAGATG	0.512000														67			21		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88379792	88379792	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:88379792G>A	uc001tam.1	-	10	1129	c.961C>T	c.(961-963)Cac>Tac	p.H321Y	C12orf50_uc001tan.3_Missense_Mutation_p.H336Y	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	321										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TTATTGCGGTGATAACTCATT	0.453000														121			10		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175334294	175334294	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175334294C>T	uc001gkp.1	-	9	2520	c.2439G>A	c.(2437-2439)gaG>gaA	p.E813E	TNR_uc009wwu.1_Silent_p.E813E	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	813	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.D812H(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCTCTTCCTCCTCATCCCTGG	0.527000														46			25		0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209783237	209783237	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:209783237G>A	uc001hhd.3	+	8	892	c.790G>A	c.(790-792)Gag>Aag	p.E264K	CAMK1G_uc001hhf.4_Missense_Mutation_p.E264K|CAMK1G_uc001hhe.3_Missense_Mutation_p.E264K	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	264	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GGATCCGAACGAGCGGTACAC	0.498000														76			21		0	0	1	0	0
ACTR3B	57180	broad.mit.edu	37	7	152520487	152520487	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:152520487C>T	uc003wle.1	+	7	862	c.745C>T	c.(745-747)Ccc>Tcc	p.P249S	ACTR3B_uc003wlf.1_Missense_Mutation_p.P249S|ACTR3B_uc003wlg.1_Missense_Mutation_p.P161S|ACTR3B_uc011kvp.1_Missense_Mutation_p.P161S	NM_020445	NP_065178	Q9P1U1	ARP3B_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog B (yeast) (ACTR3B), transcript variant 1, mRNA.	249					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	ATP binding|actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		TGATGTGGATCCCCGGAAGTG	0.418000														136			71		0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917687	48917687	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48917687C>T	uc002isv.4	+	1	1732	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	WFIKKN2_uc010dbu.3_Silent_p.F253F	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	346	BPTI/Kunitz inhibitor 1.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCTGGCACTTCGATGCCCAGG	0.622000														65			25		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38851680	38851680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38851680G>A	uc021yzh.1	+	55	8274	c.8165G>A	c.(8164-8166)cGa>cAa	p.R2722Q	DNAH8_uc003ooe.2_Missense_Mutation_p.R2505Q	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTGGATAAGCGAATTGGAAGC	0.363000														72			39		0	0	1	0	0
EIF5AL1	143244	broad.mit.edu	37	10	81272760	81272760	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81272760C>T	uc009xrx.3	+	0	404	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F	AK302451_uc010qls.1_5'Flank	NM_001099692	NP_001093162	Q6IS14	IF5AL_HUMAN	Homo sapiens eukaryotic translation initiation factor 5A-like 1 (EIF5AL1), mRNA.	119					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TGAGGGAGACCTTGGCAAGGA	0.547000														166			16		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71709037	71709037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71709037C>T	uc010fen.3	+	2	317	c.176C>T	c.(175-177)cCc>cTc	p.P59L	DYSF_uc010fei.3_Missense_Mutation_p.P58L|DYSF_uc010feh.3_Missense_Mutation_p.P58L|DYSF_uc002sig.4_Missense_Mutation_p.P58L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P58L|DYSF_uc010fee.3_Missense_Mutation_p.P58L|DYSF_uc010fef.3_Missense_Mutation_p.P58L|DYSF_uc002sie.3_Missense_Mutation_p.P58L|DYSF_uc010feo.3_Missense_Mutation_p.P59L|DYSF_uc010fej.3_Missense_Mutation_p.P59L|DYSF_uc010fel.3_Missense_Mutation_p.P59L|DYSF_uc010fem.3_Missense_Mutation_p.P59L|DYSF_uc002sif.3_Missense_Mutation_p.P59L|DYSF_uc010fek.3_Missense_Mutation_p.P59L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	58	C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AAGGGCATCCCCCTGGACCAG	0.537000														25			11		0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49898258	49898258	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49898258C>T	uc003cxt.1	-	7	859	c.666G>A	c.(664-666)gaG>gaA	p.E222E	CAMKV_uc011bcy.1_Silent_p.E147E|CAMKV_uc003cxv.1_Silent_p.E194E|CAMKV_uc003cxw.1_Silent_p.E54E|CAMKV_uc003cxx.1_Silent_p.E54E|CAMKV_uc003cxu.2_Silent_p.E222E|CAMKV_uc011bcz.1_Silent_p.E185E|CAMKV_uc011bda.1_Silent_p.E179E|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	222	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTTCCACCTCCTCATAGAAAG	0.488000														134			53		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93819207	93819207	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:93819207C>T	uc001pep.2	+	10	2089	c.1932C>T	c.(1930-1932)tcC>tcT	p.S644S	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	644	Plastocyanin-like 4.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.R644S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATAGAGTTTCCTGGCATCTGA	0.468000														42			14		0	0	1	0	0
C4orf45	152940	broad.mit.edu	37	4	159836479	159836479	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:159836479C>T	uc003iqf.1	-	3	474	c.389G>A	c.(388-390)gGa>gAa	p.G130E	C4orf45_uc010iqt.1_Non-coding_Transcript	NM_152543	NP_689756	Q96LM5	CD045_HUMAN	Homo sapiens chromosome 4 open reading frame 45 (C4orf45), mRNA.	130										large_intestine(2)|lung(3)	5						ACTCTGTTTTCCTTGCATATC	0.433000														22			8		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275979	114275979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:114275979C>T	uc003ibe.4	+	37	6305	c.6205C>T	c.(6205-6207)Cgt>Tgt	p.R2069C	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.R2084C	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2036					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGAGGAGTTCGTGTTTCCTC	0.468000														50			76		0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111854894	111854894	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111854894C>T	uc001eas.3	+	3	295	c.138C>T	c.(136-138)atC>atT	p.I46I	CHIA_uc001ear.3_Intron|CHIA_uc001eaq.3_Intron|CHIA_uc009wgc.3_Intron|CHIA_uc001eat.3_Intron|CHIA_uc001eav.3_Intron|CHIA_uc001eau.3_Intron|CHIA_uc009wgd.3_Intron	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	46					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CTGACAACATCGACCCCTGCC	0.567000														88			39		0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125391169	125391169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125391169G>A	uc011lyz.2	-	0	646	c.646C>T	c.(646-648)Ccc>Tcc	p.P216S		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						AGGGCACAGGGGCCCAGCATA	0.537000														62			8		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885275	88885275	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:88885275C>T	uc003ydz.3	-	0	1022	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	309										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACATGACCTTCGTACTGTGTT	0.517000														71			13		0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162851822	162851822	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:162851822C>T	uc002ubz.3	-	23	2674	c.2113G>A	c.(2113-2115)Gga>Aga	p.G705R	DPP4_uc010fpb.3_Missense_Mutation_p.G381R	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	705					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TCTGCTGTTCCATGAATAAGG	0.363000														115			38		0	0	1	0	0
RND3	390	broad.mit.edu	37	2	151328151	151328151	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:151328151G>A	uc002txg.3	-	4	658	c.473C>T	c.(472-474)tCc>tTc	p.S158F	RND3_uc002txe.3_Missense_Mutation_p.S158F|RND3_uc010zbv.2_Intron	NM_005168	NP_005159	P61587	RND3_HUMAN	Homo sapiens Rho family GTPase 3 (RND3), transcript variant 2, mRNA.	158					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		CTGGTCATAGGACACTGGCGT	0.408000														168			11		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117243236	117243236	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:117243236G>A	uc003pxm.3	+	12	1422	c.1359G>A	c.(1357-1359)aaG>aaA	p.K453K		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	453					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AAGAACTGAAGGATCTCCTTA	0.353000														58			14		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46998940	46998940	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:46998940C>T	uc001jec.3	+	2	195	c.60C>T	c.(58-60)ccC>ccT	p.P20P	GPRIN2_uc021ppt.1_Silent_p.P20P	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	20										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCCTTCAGCCCCTGTCCCAGA	0.687000														134			9		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173569281	173569281	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:173569281C>T	uc001giz.2	-	2	626	c.203G>A	c.(202-204)gGa>gAa	p.G68E	SLC9C2_uc010pmq.1_Intron	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	68					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GGCCATGTGTCCTATCACGAA	0.348000														74			9		0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170239104	170239104	+	Missense_Mutation	SNP	G	A	A	rs147911240		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:170239104G>A	uc003mau.3	+	9	1363	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	GABRP_uc011dev.2_3'UTR	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	389						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAAACCAGCGACAAGTTCAA	0.408000														85			42		0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76812818	76812818	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:76812818G>A	uc003hix.3	-	3	581	c.224C>T	c.(223-225)cCc>cTc	p.P75L	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.P75L	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	75					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTGGCTGCTGGGGATGAAGTG	0.517000														221			85		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228562353	228562353	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228562353G>A	uc009xez.1	+	96	22607	c.22563G>A	c.(22561-22563)ctG>ctA	p.L7521L	OBSCN_uc001hsr.1_Silent_p.L2150L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7521	Ig-like 55.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCAGCTTCTGACCATCCTGG	0.622000														65			25		0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130932542	130932542	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:130932542G>A	uc002tqq.2	-	2	1337	c.188C>T	c.(187-189)cCc>cTc	p.P63L	SMPD4_uc002tqp.2_5'Flank|SMPD4_uc010yzy.2_Missense_Mutation_p.P63L|SMPD4_uc010yzz.2_Intron|SMPD4_uc002tqs.2_5'UTR|SMPD4_uc002tqr.2_Missense_Mutation_p.P63L|SMPD4_uc010zaa.2_5'UTR|SMPD4_uc010zab.2_Missense_Mutation_p.P63L|SMPD4_uc002tqt.2_5'UTR|SMPD4_uc010zac.2_Intron|SMPD4_uc010zad.2_Intron	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	24					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CTGTGCAAAGGGCTTATTTAT	0.443000														105			41		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142609852	142609852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142609852C>T	uc003wby.1	-	12	1848	c.1584G>A	c.(1582-1584)atG>atA	p.M528I		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	528					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TGAACAGTGCCATGGGGTAGT	0.498000														83			37		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111470544	111470544	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:111470544G>A	uc003iab.4	+	14	2536	c.2194G>A	c.(2194-2196)Gga>Aga	p.G732R		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	732					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGATTCTCTGGGATGGAATGA	0.313000														76			16		0	0	1	0	0
TRAV38-2DV8	28643	broad.mit.edu	37	14	22749075	22749075	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22749075C>T	uc010tmr.2	+	0	88	c.42C>T	c.(40-42)acC>acT	p.T14T	TCRA_uc001wbw.2_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_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron					SubName: Full=HADV38S2; Flags: Fragment;																		TGATCTCCACCTGTCTTGGTA	0.468000														96			45		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104122736	104122736	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:104122736C>T	uc001tjw.3	+	47	5231	c.5045C>T	c.(5044-5046)tCc>tTc	p.S1682F	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1682	FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AATGCTACTTCCCTCCAAGGA	0.498000														83			32		0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44489665	44489665	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:44489665G>A	uc003cnf.2	-	7	1846	c.1498C>T	c.(1498-1500)Ctt>Ttt	p.L500F	ZNF445_uc011azv.1_Missense_Mutation_p.L488F|ZNF445_uc011azw.1_Missense_Mutation_p.L500F	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	500					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGATACGCAAGATGGGAGCTA	0.493000														72			42		0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58014179	58014179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:58014179C>T	uc001spe.3	+	0	487	c.176C>T	c.(175-177)tCt>tTt	p.S59F	BC073932_uc001spc.3_5'Flank|SLC26A10_uc001spf.3_Non-coding_Transcript	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	59						integral to membrane	antiporter activity	p.T58A(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTCTACACTTCTTTCTTCCCC	0.557000														533			154		0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058286	56058286	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56058286A>C	uc010rje.2	-	0	253	c.253T>G	c.(253-255)Tta>Gta	p.L85V		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAAGTCAGTAAGTTCGCTAAG	0.418000														346			134		0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110662232	110662232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:110662232C>T	uc011cft.2	-	13	1801	c.1593G>A	c.(1591-1593)ggG>ggA	p.G531G	CFI_uc003hzq.3_Silent_p.G320G|CFI_uc003hzr.4_Silent_p.G523G	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	523	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CTCCAGAGTCCCCTTTACAGG	0.463000														204			86		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102815	22102815	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22102815G>A	uc010tmc.2	-	0	184	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TACATGGGGCGAGCACAGAGC	0.512000														68			30		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132736524	132736524	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:132736524C>T	uc003kyn.1	-	3	533	c.315G>A	c.(313-315)ggG>ggA	p.G105G		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	105	Kazal-like.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATAAAACCTCCCATCAGAGC	0.587000														72			10		0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776054	5776054	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5776054G>A	uc001mbu.3	+	0	132	c.84G>A	c.(82-84)tgG>tgA	p.W28*	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CACAACTCTGGATTTCCTTCC	0.438000														69			27		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87092147	87092147	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87092147G>A	uc003uiv.1	-	3	289	c.213C>T	c.(211-213)ctC>ctT	p.L71L	ABCB4_uc003uiw.1_Silent_p.L71L|ABCB4_uc003uix.1_Silent_p.L71L|ABCB4_uc003uiy.3_Silent_p.L71L	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	71	ABC transmembrane type-1 1.			IMAIAHGSGLP -> RGSSRVDLQAC (in Ref. 5; CAA84542).	cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCATGAGGGGGAGACCTGATC	0.378000														60			18		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94993217	94993217	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94993217C>T	uc003unt.3	-	5	678	c.653G>A	c.(652-654)gGa>gAa	p.G218E	PON1_uc011kih.2_Intron|PON1_uc011kii.2_Missense_Mutation_p.G266E	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	219					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	p.G218E(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	ACTACAAAATCCTTTGGCCAC	0.428000														184			81		0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23406208	23406208	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:23406208C>T	uc002zwt.3	-	4	683	c.525G>A	c.(523-525)ctG>ctA	p.L175L		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.	175							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GGCAGAGGACCAGTGTGTCCA	0.577000														49			10		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11732253	11732253	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:11732253C>T	uc003jfa.1	-	1	314	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	57					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTACCTGTTCTTTGACTGAG	0.418000														137			12		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903240	6903240	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:6903240C>T	uc003bqm.2	+	0	439	c.165C>T	c.(163-165)ttC>ttT	p.F55F	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.F55F|GRM7_uc003bql.2_Silent_p.F55F	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	55					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGGGGCTGTTCCCCGTGCACG	0.692000														9			3		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024332	76024332	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:76024332C>T	uc010kbe.3	-	5	1755	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	FILIP1_uc003phy.1_Missense_Mutation_p.E406K|FILIP1_uc003phz.3_Missense_Mutation_p.E307K|FILIP1_uc003pia.3_Missense_Mutation_p.E406K|FILIP1_uc003pib.1_Missense_Mutation_p.E158K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	406										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCCTCAATTCCCTACACTGG	0.423000														143			14		0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138394383	138394383	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:138394383G>A	uc003vuf.3	-	19	2653	c.2415C>T	c.(2413-2415)gcC>gcT	p.A805A	ATP6V0A4_uc003vug.3_Silent_p.A805A|ATP6V0A4_uc003vuh.3_Silent_p.A805A	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	805					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.H804H(1)|p.A805T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCAGTCGCAGGGCGTGCAGGA	0.552000														212			83		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106926359	106926359	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106926359C>T	uc021ser.1	-	325		c.11509G>A								Parts of antibodies, mostly variable regions.																		CCAGACCCTTCCCCGGAGCTT	0.542000														153			72		0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763791	110763791	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:110763791G>A	uc003puf.3	-	3	906	c.839C>T	c.(838-840)cCc>cTc	p.P280L	SLC22A16_uc003pue.3_Missense_Mutation_p.P261L	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	280					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CAGGATAAAGGGGACAGTCAC	0.488000														46			32		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57425699	57425699	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57425699C>T	uc001cyp.3	-	1	310	c.243G>A	c.(241-243)aaG>aaA	p.K81K	C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_Silent_p.K29K	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	81	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TTACCCTTTTCTTCTGACAGG	0.532000														29			15		0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52852284	52852284	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52852284G>A	uc011bem.2	-	18	2211	c.2183C>T	c.(2182-2184)aCc>aTc	p.T728I	ITIH4_uc011bel.2_Missense_Mutation_p.T423I|ITIH4_uc003dfy.3_Missense_Mutation_p.T557I|ITIH4_uc003dfz.3_Missense_Mutation_p.T723I|ITIH4_uc011ben.2_Missense_Mutation_p.T693I	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	723					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGGGGTTTGGGTTGTCATGGT	0.597000														65			11		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562487	145562487	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:145562487C>T	uc001eob.1	+	9	2283	c.2175C>T	c.(2173-2175)tcC>tcT	p.S725S	ANKRD35_uc010oyx.1_Silent_p.S568S	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	725										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGCGGAGTCCCTGGAGGAGC	0.667000														18			3		0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154684136	154684136	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:154684136G>A	uc003wlk.3	+	25	2673	c.2544G>A	c.(2542-2544)agG>agA	p.R848R	DPP6_uc003wli.3_Silent_p.R784R|DPP6_uc003wlm.3_Silent_p.R786R|DPP6_uc011kvq.2_Silent_p.R741R	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	848					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AATGCTTCAGGATCCAGGACA	0.502000														99			51		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181341	140181341	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140181341G>A	uc003lhf.2	+	0	559	c.559G>A	c.(559-561)Gag>Aag	p.E187K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.E187K	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	202	Cadherin 2.				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)			AAGAAATGATGAGGAAATTAA	0.373000														57			40		0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38803830	38803830	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:38803830G>A	uc001zke.4	-	7	1119	c.941C>T	c.(940-942)tCg>tTg	p.S314L	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Missense_Mutation_p.S176L|RASGRP1_uc010bbg.3_Missense_Mutation_p.S176L|RASGRP1_uc001zkd.4_Missense_Mutation_p.S314L	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	314	Ras-GEF.				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	p.S314L(4)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGGGACATGCGAACTTGTCTC	0.493000														80			9		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075177	106075177	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106075177G>A	uc001kyf.3	-	2	1086	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ITPRIP_uc001kye.3_Silent_p.F211F|ITPRIP_uc001kyg.3_Silent_p.F211F|ITPRIP_uc021pxv.1_Silent_p.F211F	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	211						plasma membrane		p.F211F(2)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGAAGGGCACGAAAAGGTGGC	0.637000														62			34		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583815	82583815	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82583815C>T	uc003uhx.2	-	4	6743	c.6454G>A	c.(6454-6456)Gaa>Aaa	p.E2152K	PCLO_uc003uhv.2_Missense_Mutation_p.E2152K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2083					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						TCTTGAATTTCTCTTGTATAA	0.413000														63			33		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373317	126373317	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126373317C>T	uc003ifj.4	+	8	11146	c.11146C>T	c.(11146-11148)Cgt>Tgt	p.R3716C	FAT4_uc011cgp.2_Missense_Mutation_p.R2014C|FAT4_uc003ifi.1_Missense_Mutation_p.R1194C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3716					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R3716C(6)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATCTTACTTCGTCTCGGCGT	0.468000														166			16		0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48076025	48076025	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:48076025G>A	uc003gxx.4	-	12	1370	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	TXK_uc010igj.3_Intron|TXK_uc011bzj.2_Silent_p.F115F	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	428	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						ACTTGATTGGGAACTTGGCTC	0.388000														90			9		0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51449363	51449363	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:51449363G>A	uc010lxy.1	+	11	1046	c.675G>A	c.(673-675)ttG>ttA	p.L225L	SNTG1_uc003xqs.1_Silent_p.L225L|SNTG1_uc010lxz.1_Silent_p.L225L|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	225					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.D224A(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCACAGATTTGAGTCGGTGAG	0.453000														166			19		0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109924794	109924794	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:109924794C>T	uc004eou.4	-	9	1421	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	CHRDL1_uc004eov.3_Missense_Mutation_p.E347K|CHRDL1_uc004eow.3_Missense_Mutation_p.E356K|CHRDL1_uc010nps.3_Missense_Mutation_p.E357K|CHRDL1_uc011mss.2_Missense_Mutation_p.E278K	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	350					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TCCCCATCCTCCATGAATACA	0.473000														39			72		0	0	1	0	0
DRG1	4733	broad.mit.edu	37	22	31807018	31807018	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31807018C>T	uc003aku.3	+	3	494	c.363C>T	c.(361-363)atC>atT	p.I121I		NM_004147	NP_004138	Q9Y295	DRG1_HUMAN	Homo sapiens developmentally regulated GTP binding protein 1 (DRG1), mRNA.	121	G.				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						TCCCAGGTATCATTGAAGGTG	0.413000														58			23		0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18507007	18507007	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18507007C>T	uc002niw.3	-	0	1409	c.767G>A	c.(766-768)tGg>tAg	p.W256*	LRRC25_uc002nix.3_Nonsense_Mutation_p.W256*	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	Homo sapiens leucine rich repeat containing 25 (LRRC25), mRNA.	256						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TTGTTCATCCCACTGGTGCTC	0.597000														83			20		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55151968	55151968	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55151968G>A	uc010ooe.1	+	14	2882	c.2558G>A	c.(2557-2559)aGc>aAc	p.S853N	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.S421N|HEATR8_uc010ood.1_Missense_Mutation_p.S371N|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Intron|HEATR8_uc010oog.1_Missense_Mutation_p.S853N|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.S55N|HEATR8_uc001cxu.3_5'UTR	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	853						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						TCCGTCAACAGCTGCATGGGC	0.652000														35			12		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163279938	163279938	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:163279938G>A	uc002uch.2	-	8	2291	c.2062C>T	c.(2062-2064)Cgc>Tgc	p.R688C	KCNH7_uc002uci.3_Missense_Mutation_p.R681C	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	688					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.R688H(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGGTGAAAGCGAATGAACTCT	0.438000														189			26		0	0	1	0	0
PAGE4	9506	broad.mit.edu	37	X	49597218	49597218	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:49597218C>T	uc004don.1	+	3	336	c.257C>T	c.(256-258)cCa>cTa	p.P86L		NM_007003	NP_008934	O60829	GAGC1_HUMAN	Homo sapiens P antigen family, member 4 (prostate associated) (PAGE4), mRNA.	86												Ovarian(276;0.236)					GAGAAGACTCCACCTAATCCT	0.383000														30			20		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401379	77401379	+	Missense_Mutation	SNP	C	T	T	rs146432168		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:77401379C>T	uc002ffc.4	-	3	1156	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	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.	246					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R246*(1)		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						TTGCAACCTTCGATGGTGATA	0.483000														64			28		0	0	1	0	0
C20orf118	140711	broad.mit.edu	37	20	35506399	35506399	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:35506399C>T	uc002xgg.1	+	1	139	c.131C>T	c.(130-132)cCc>cTc	p.P44L	C20orf118_uc021wcz.1_Missense_Mutation_p.P44L	NM_080628	NP_542195	A0PJX2	CT118_HUMAN	Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA.	44										kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	9		Myeloproliferative disorder(115;0.00874)				CCTGAGGATCCCACGGTGCCC	0.607000														73			21		0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350363	51350363	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51350363C>T	uc001zyy.3	-	2	694	c.594G>A	c.(592-594)aaG>aaA	p.K198K		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	198										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		GGTTCAGCTTCTTCCGGAACT	0.488000														107			13		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105405844	105405844	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105405844A>G	uc010axc.1	-	6	16064	c.15944T>C	c.(15943-15945)cTt>cCt	p.L5315P	AHNAK2_uc021sen.1_Missense_Mutation_p.L712P|AHNAK2_uc021seo.1_Missense_Mutation_p.L313P|AHNAK2_uc001ypx.2_Missense_Mutation_p.L5215P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5315						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTTTCTGGAAGCCTCATGCC	0.507000														31			19		0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56531834	56531834	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56531834C>T	uc001sjr.3	+	19	2371	c.2253C>T	c.(2251-2253)gtC>gtT	p.V751V	ESYT1_uc001sjq.3_Silent_p.V741V	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	741						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TCACCACAGTCTTAAACAGTG	0.468000														124			22		0	0	1	0	0
PION	54103	broad.mit.edu	37	7	76955545	76955545	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:76955545C>T	uc003ugf.3	-	22	1890	c.1811G>A	c.(1810-1812)cGg>cAg	p.R604Q	PION_uc011kgo.2_5'UTR|PION_uc003ugd.3_5'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	604					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATGAGCAGCCGCTGGTGGCT	0.512000														69			23		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5058617	5058617	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:5058617C>T	uc002cye.2	+	13	1948	c.1768C>T	c.(1768-1770)Ccc>Tcc	p.P590S		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	590	GOLD.					integral to membrane|intracellular	transporter activity	p.P590A(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGTGGAGGCTCCCCTTGTCTG	0.657000														70			26		0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183888435	183888435	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183888435C>T	uc003fms.3	+	14	2183	c.2043C>T	c.(2041-2043)gcC>gcT	p.A681A	DVL3_uc011bqw.2_Silent_p.A664A|DVL3_uc003fmt.3_Silent_p.A352A|DVL3_uc003fmu.3_Silent_p.A513A	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	681					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCCCAGGAGCCCCTCCGGGCC	0.697000														19			15		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513213	78513213	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:78513213C>T	uc001syp.3	+	14	3410	c.3237C>T	c.(3235-3237)atC>atT	p.I1079I	NAV3_uc001syo.3_Silent_p.I1079I|NAV3_uc010sub.2_Silent_p.I579I|NAV3_uc009zsf.3_Silent_p.I87I	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1079	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						CTGCCATGATCACCAGCAGTG	0.498000										HNSCC(70;0.22)				72			6		0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22303555	22303555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22303555C>T	uc001bfk.3	+	0	138	c.23C>T	c.(22-24)tCc>tTc	p.S8F	CELA3B_uc009vqf.3_Missense_Mutation_p.S7F	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	8					cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CTGCTCAGTTCCCTCCTCCTT	0.527000														230			86		0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123629551	123629551	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:123629551G>A	uc001lfp.3	-	7	1027	c.945C>T	c.(943-945)ttC>ttT	p.F315F	ATE1_uc001lfq.3_Silent_p.F315F|ATE1_uc010qtr.2_Silent_p.F200F|ATE1_uc010qts.2_Silent_p.F219F|ATE1_uc010qtt.2_Silent_p.F308F|ATE1_uc001lfr.3_Silent_p.F16F|ATE1_uc009xzu.3_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	315					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GGAATCTTGTGAACTGCAGTC	0.338000														69			35		0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126091028	126091028	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:126091028G>A	uc003yrt.3	-	5	992	c.663C>T	c.(661-663)ttC>ttT	p.F221F	KIAA0196_uc011lir.2_Silent_p.F73F	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	221					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CCATACTGATGAAGGATTCGT	0.413000														80			29		0	0	1	0	0
MATN3	4148	broad.mit.edu	37	2	20205896	20205896	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:20205896G>A	uc002rdl.3	-	1	462	c.399C>T	c.(397-399)atC>atT	p.I133I	MATN3_uc010exu.1_Silent_p.I133I	NM_002381	NP_002372	O15232	MATN3_HUMAN	Homo sapiens matrilin 3 (MATN3), mRNA.	133	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTGGAACTCGATCTTCACAG	0.547000														25			15		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508413	37508413	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:37508413G>A	uc021ppc.1	+	33	3704	c.3605G>A	c.(3604-3606)aGg>aAg	p.R1202K	ANKRD30A_uc001iza.1_Missense_Mutation_p.R1202K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1258						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAAGCTCAAAGGAAATCCAAA	0.363000														54			13		0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2928182	2928182	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:2928182C>T	uc011mhj.2	+	1	204	c.204C>T	c.(202-204)ccC>ccT	p.P68P		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	68						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCCGGTACCCCATCAGATCAG	0.483000														6			9		0	0	1	0	0
KIAA0146	23514	broad.mit.edu	37	8	48614394	48614394	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:48614394C>T	uc003xqd.3	+	12	1947	c.1885C>T	c.(1885-1887)Cca>Tca	p.P629S	KIAA0146_uc011ldb.2_Missense_Mutation_p.P629S|KIAA0146_uc010lxs.3_Missense_Mutation_p.P104S|KIAA0146_uc011ldc.2_Missense_Mutation_p.P559S|KIAA0146_uc011ldd.2_Missense_Mutation_p.P569S|KIAA0146_uc003xqe.3_Missense_Mutation_p.P104S|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Missense_Mutation_p.P318S|KIAA0146_uc010lxt.3_Missense_Mutation_p.P318S|KIAA0146_uc011ldf.2_Missense_Mutation_p.P134S|KIAA0146_uc011ldg.2_Missense_Mutation_p.P119S|KIAA0146_uc010lxv.1_Missense_Mutation_p.P123S	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	629										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				TTACCAGCCTCCAGTTACCCG	0.448000														248			95		0	0	1	0	0
EPO	2056	broad.mit.edu	37	7	100320391	100320391	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100320391C>A	uc003uwi.3	+	3	532	c.351C>A	c.(349-351)ccC>ccA	p.P117P	EPO_uc011kkc.1_Silent_p.P117P	NM_000799	NP_000790	P01588	EPO_HUMAN	Homo sapiens erythropoietin (EPO), mRNA.	117					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CGTGGGAGCCCCTGCAGCTGC	0.652000														39			19		5.26018e-13	5.28346e-13	1	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138768660	138768660	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:138768660A>T	uc003vun.3	-	2	951	c.563T>A	c.(562-564)cTc>cAc	p.L188H	ZC3HAV1_uc003vup.3_Missense_Mutation_p.L188H	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	188					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATGGGACCGGAGGCAGTTGGG	0.572000														50			16		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332299	70332299	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70332299G>A	uc001oqc.3	-	20	4013	c.3901C>T	c.(3901-3903)Ccc>Tcc	p.P1301S	SHANK2_uc010rqn.2_Missense_Mutation_p.P777S|SHANK2_uc001opz.3_Missense_Mutation_p.P772S|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	988					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACGGTGGTGGGCTCGGGGGCA	0.627000														30			20		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34180240	34180240	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:34180240C>T	uc002nus.4	+	2	578	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	CHST8_uc002nut.4_Missense_Mutation_p.L25F|CHST8_uc002nuu.3_Missense_Mutation_p.L25F	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	25					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					AGCTGCAGGCCTCCTCCTCTT	0.637000														101			42		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	70998852	70998852	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:70998852G>A	uc001jpf.4	+	4	683	c.550G>A	c.(550-552)Gat>Aat	p.D184N	HKDC1_uc010qje.2_Missense_Mutation_p.D47N	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	184					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCAGGACACGGATGTGGTGAG	0.512000														40			11		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72938120	72938120	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72938120C>T	uc010wrr.2	+	2	615	c.615C>T	c.(613-615)ttC>ttT	p.F205F	OTOP3_uc010wrq.2_Silent_p.F187F	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	205						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGATGGTCTTCATCGGCGTCC	0.557000														34			12		0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149901663	149901663	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:149901663G>A	uc001etl.4	-	15	2044	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Missense_Mutation_p.S526F	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	598	Myotubularin phosphatase.						phosphatase activity	p.L597delL(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCTTTCAGAGGAGATAGCAGG	0.602000														74			25		0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8530211	8530212	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8530211_8530212CC>TT	uc010dwe.3	+	5	522_523	c.442_443CC>TT	c.(442-444)cct>TTt	p.P148F	HNRNPM_uc010dwc.1_Missense_Mutation_p.P148F|HNRNPM_uc010xke.1_Missense_Mutation_p.P148F|HNRNPM_uc010dwd.3_Missense_Mutation_p.P148F|HNRNPM_uc002mka.3_Missense_Mutation_p.P28F	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	148	RRM 1.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GTTTTAGGATCCTGATGGTGAA	0.460000														176			17		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68606139	68606139	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:68606139C>T	uc010bib.3	-	22	2947	c.2860G>A	c.(2860-2862)Gag>Aag	p.E954K	ITGA11_uc002ari.3_Missense_Mutation_p.E954K	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	954					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ACGTCAGCCTCGTATTTGAGG	0.637000														32			7		0	0	1	0	0
TMEM9	252839	broad.mit.edu	37	1	201115880	201115881	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201115880_201115881GG>AA	uc010ppo.2	-	3	425_426	c.329_330CC>TT	c.(328-330)acc>aTT	p.T110I	TMEM9_uc001gvx.3_Missense_Mutation_p.T85I|TMEM9_uc001gvy.3_Missense_Mutation_p.T85I|TMEM9_uc001gvz.3_Missense_Mutation_p.T88I|TMEM9_uc001gwa.3_Missense_Mutation_p.T85I|TMEM9_uc010ppp.1_Missense_Mutation_p.T85I	NM_016456	NP_057540	Q9P0T7	TMEM9_HUMAN	Homo sapiens transmembrane protein 9 (TMEM9), mRNA.	85					transport	integral to membrane|late endosome membrane|lysosomal membrane				liver(1)|lung(1)|stomach(1)	3		Breast(1374;0.000301)				TGATGGTGGTGGTGCTGCGCTC	0.589000														99			19		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	124097438	124097438	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:124097438C>T	uc010nqy.3	-	0	229	c.165G>A	c.(163-165)atG>atA	p.M55I	ODZ1_uc011muj.2_Missense_Mutation_p.M55I|ODZ1_uc004euj.3_Missense_Mutation_p.M55I	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	55	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TATTGTAATTCATCCTCAGCT	0.373000														82			106		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215914768	215914768	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:215914768C>T	uc001hku.1	-	59	12047	c.11660G>A	c.(11659-11661)tGg>tAg	p.W3887*		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3887	Fibronectin type-III 24.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W3887C(1)		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)		AGGTGGCATCCACTTAATCTC	0.383000										HNSCC(13;0.011)				117			44		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256254	15256254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15256254C>T	uc001iob.3	-	7	1340	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	445						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTGAGGTTATCAAAGGAGATC	0.498000														51			23		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532391	50532391	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50532391C>T	uc021pqb.1	+	0	1801	c.1801C>T	c.(1801-1803)Ccc>Tcc	p.P601S	C10orf71_uc021pqa.1_Missense_Mutation_p.P600S|C10orf71_uc021pqc.1_Missense_Mutation_p.P601S	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	601										endometrium(1)	1						CGCCAAAGCCCCCTTCTATGT	0.547000														23			10		0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74326663	74326663	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74326663G>A	uc010wtb.1	-	4	460	c.239C>T	c.(238-240)tCa>tTa	p.S80L	PRPSAP1_uc010wta.1_Missense_Mutation_p.S183L	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	154					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CAGGAAAGGTGAGGCTCTAAG	0.388000														60			25		0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219499293	219499293	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219499293G>A	uc021vwx.1	+	12	2175	c.1836G>A	c.(1834-1836)caG>caA	p.Q612Q		NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	612					intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GTGATATCCAGAGTTCTTTCC	0.498000														190			72		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167626901	167626901	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:167626901C>T	uc010jjd.3	+	16	3168	c.3168C>T	c.(3166-3168)tcC>tcT	p.S1056S	ODZ2_uc003lzr.4_Silent_p.S833S|ODZ2_uc003lzt.4_Silent_p.S429S|ODZ2_uc010jje.3_Silent_p.S327S	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)		TCCCTGGTTCCAATGTGAAAC	0.493000														193			16		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125844486	125844486	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:125844486C>T	uc003eim.1	-	14	1963	c.1773G>A	c.(1771-1773)ggG>ggA	p.G591G	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.G490G	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	591	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCACTGTGTTCCCGGCAGCCA	0.572000														74			26		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61990996	61990996	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61990996G>A	uc002yes.2	-	1	310	c.132C>T	c.(130-132)ctC>ctT	p.L44L	CHRNA4_uc002yet.1_Intron|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	44					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	AACCGGAGAAGAGTTTCTTCA	0.652000														77			7		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14724464	14724464	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:14724464G>A	uc003byy.3	+	2	696	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	C3orf20_uc003byz.3_Intron|C3orf20_uc003bza.3_Intron|C3orf20_uc003byx.2_Missense_Mutation_p.E82K	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	82						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GGTGCTCATGGAACCCACCTT	0.607000														43			14		0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64507629	64507629	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64507629G>A	uc009ypu.3	-	5	605	c.378C>T	c.(376-378)acC>acT	p.T126T	RASGRP2_uc001oat.3_Silent_p.T28T|RASGRP2_uc001oau.3_5'UTR|RASGRP2_uc009ypv.3_Silent_p.T126T|RASGRP2_uc009ypw.3_Silent_p.T126T	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	126	N-terminal Ras-GEF.				Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCACTTGTAGGTAGGGCTGG	0.597000														67			25		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162696315	162696315	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:162696315G>A	uc002ubx.4	+	3	478	c.294G>A	c.(292-294)agG>agA	p.R98R	SLC4A10_uc010fpa.1_Silent_p.R110R|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Silent_p.R109R|SLC4A10_uc002uby.4_Silent_p.R98R	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	98					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CATCACAGAGGGTACAGTTTA	0.453000														43			15		0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6498355	6498355	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:6498355G>A	uc002gde.4	-	15	2736	c.2377C>T	c.(2377-2379)Cgt>Tgt	p.R793C	KIAA0753_uc010vtd.2_Missense_Mutation_p.R249C|KIAA0753_uc010clo.3_Missense_Mutation_p.R494C|KIAA0753_uc010vte.2_Missense_Mutation_p.R494C	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	793						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TATCTTTGACGAACAGACTCC	0.308000														28			31		0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75398191	75398191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:75398191C>T	uc002jts.4	+	2	253	c.127C>T	c.(127-129)Cca>Tca	p.P43S	SEPT9_uc010wtk.2_Missense_Mutation_p.P24S|SEPT9_uc002jtt.4_5'UTR|SEPT9_uc002jtu.4_Missense_Mutation_p.P25S|SEPT9_uc002jtv.3_Missense_Mutation_p.P36S|SEPT9_uc002jtw.3_5'UTR|SEPT9_uc002jtx.1_5'UTR|SEPT9_uc010wtl.2_5'Flank	NM_001113491	NP_001106968	Q9UHD8	SEPT9_HUMAN	Homo sapiens septin 9 (SEPT9), transcript variant 1, mRNA.	43					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CAACTCCACCCCACCCCGGAG	0.567000														49			19		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533756	92533756	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92533756G>A	uc001pdj.4	+	8	7594	c.7577G>A	c.(7576-7578)gGg>gAg	p.G2526E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2526	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGTGATCCAGGGACTTATGGG	0.493000										TCGA Ovarian(4;0.039)				19			4		0	0	1	0	0
BTF3P11	690	broad.mit.edu	37	13	77502816	77502816	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:77502816C>T	uc001vkb.4	+	0		c.232C>T								Homo sapiens basic transcription factor 3 pseudogene 11 (BTF3P11), non-coding RNA.																		GATCATAAACCAGTGCTGCAG	0.488000														46			15		0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113234613	113234613	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113234613C>T	uc001pnv.3	+	19	1903	c.1798C>T	c.(1798-1800)Cat>Tat	p.H600Y	TTC12_uc001pnu.3_Missense_Mutation_p.H594Y|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Missense_Mutation_p.H444Y	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	594							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GAATAGTTATCATGAAGCTCG	0.388000														46			18		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577743	9577743	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9577743G>A	uc002mlp.1	-	9	2090	c.1880C>T	c.(1879-1881)cCc>cTc	p.P627L	ZNF560_uc010dwr.1_Missense_Mutation_p.P521L	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K626K(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ATATTCATAGGGCTTATCTCC	0.393000														120			46		0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113512583	113512583	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:113512583C>T	uc001vsj.4	+	21	2734	c.2646C>T	c.(2644-2646)ctC>ctT	p.L882L	ATP11A_uc001vsi.4_Silent_p.L882L|ATP11A_uc001vsm.1_Silent_p.L758L|ATP11A_uc010ago.3_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	882					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)				TCTCTGAGCTCGTGCAGTACT	0.507000														55			12		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131922087	131922087	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:131922087C>T	uc003ytd.4	-	5	1763	c.1507G>A	c.(1507-1509)Gat>Aat	p.D503N	ADCY8_uc010mds.3_Missense_Mutation_p.D503N	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	503					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGTCAACATCGTGTTTTGTC	0.478000										HNSCC(32;0.087)				91			17		0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54142292	54142292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:54142292C>T	uc003xrh.1	-	2	1083	c.708G>A	c.(706-708)gtG>gtA	p.V236V	OPRK1_uc022aup.1_Silent_p.V116V|OPRK1_uc003xri.1_Silent_p.V236V|OPRK1_uc010lyc.1_Silent_p.V147V	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	236					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.F235F(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GGACAGGGATCACGAAGGCAA	0.532000														51			18		0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402395	248402395	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248402395C>T	uc010pzh.2	+	0	165	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			AGAAACAGCTCCACACCCCCA	0.483000														184			77		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77425644	77425644	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:77425644G>A	uc021sqy.1	-	6	4356	c.3780C>T	c.(3778-3780)ccC>ccT	p.P1260P		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1260					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GTCTGCAAGAGGGCCCACGCC	0.527000														135			49		0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10584713	10584713	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10584713G>A	uc001qyk.2	-	4	583	c.576C>T	c.(574-576)ttC>ttT	p.F192F	KLRC2_uc001qyh.3_Intron|KLRC2_uc010she.1_Silent_p.F192F	NM_002260	NP_002251	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 2 (KLRC2), mRNA.	192	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ACTTATGTTTGAAAGCCAAAC	0.313000														36			7		0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61986905	61986905	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:61986905C>T	uc001vid.4	-	1	1691	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	PCDH20_uc010thj.2_Missense_Mutation_p.E443K	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	416	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		GGTTCCAGTTCTTTCAGATAA	0.418000														103			35		0	0	1	0	0
ZNF837	116412	broad.mit.edu	37	19	58879844	58879844	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58879844G>A	uc002qsm.3	-	2	1179	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	ZNF837_uc002qsl.4_Silent_p.L286L|ZNF837_uc021vcx.1_Silent_p.L286L	NM_001129730	NP_612475	Q96EG3	ZN837_HUMAN	Homo sapiens zinc finger protein 837 (ZNF837), transcript variant 1, mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|skin(1)	2						TGCTGCAGCAGGCTGGAGGTG	0.701000														7			4		0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40774549	40774549	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:40774549G>A	uc004abs.2	-	4	878	c.726C>T	c.(724-726)tcC>tcT	p.S242S	ZNF658_uc010mmm.2_Silent_p.S242S|ZNF658_uc010mmn.1_Silent_p.S242S	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CATCCTTACAGGACTTTTCTC	0.328000														93			24		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149879693	149879693	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:149879693G>A	uc001etg.3	-	8	1936	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	SV2A_uc009wlk.3_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.S482F	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	482					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TTTGGTGCGGGATGCGTAGTC	0.527000														155			47		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37282783	37282783	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:37282783G>A	uc001caz.2	-	12	2104	c.1969C>T	c.(1969-1971)Ctg>Ttg	p.L657L	GRIK3_uc001cba.1_Silent_p.L657L	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	657					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AAGGCAGCCAGGTTGGCCGTG	0.552000														57			36		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45709910	45709910	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45709910C>T	uc002zei.2	+	6	965	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	AIRE_uc010gpq.2_5'Flank|AIRE_uc002zej.2_5'Flank|AIRE_uc010gpr.2_5'Flank	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	280	SAND.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGGCAGCGTTCCCGCCCCTCT	0.687000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					19			7		0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233244485	233244485	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233244485G>A	uc002vsq.3	+	4	661	c.496G>A	c.(496-498)Gga>Aga	p.G166R		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	166						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GAAGTCAGTGGGAGTGGTAAC	0.632000														42			15		0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58439036	58439036	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58439036G>A	uc002qqs.1	-	3	805	c.513C>T	c.(511-513)agC>agT	p.S171S	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Silent_p.S86S	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GTAATCCTGAGCTGGGCAAAA	0.478000														70			34		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101551177	101551177	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:101551177C>T	uc001thz.4	-	14	2103	c.1713G>A	c.(1711-1713)aaG>aaA	p.K571K		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	571	Poly-Lys.				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAACATGCTTCTTCTAAAAGA	0.343000														11			3		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740234	62740234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62740234C>T	uc001dah.4	-	2	919	c.542G>A	c.(541-543)aGc>aAc	p.S181N	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	181										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGGCCCCAGGCTCAGGCCTGG	0.637000														33			4		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140846790	140846790	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140846790C>T	uc004cog.3	+	6	1176	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	CACNA1B_uc022bqn.1_Missense_Mutation_p.S344F	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	344					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ATCATCGGCTCCTTCTTCATG	0.582000														60			7		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47173598	47173598	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:47173598C>T	uc001rpi.2	-	8	1022	c.623G>A	c.(622-624)gGa>gAa	p.G208E	SLC38A4_uc001rpj.2_Missense_Mutation_p.G208E|SLC38A4_uc009zkl.2_Missense_Mutation_p.G208E	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	208					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					AAGAATAATTCCAACAGACAC	0.303000														48			17		0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33517487	33517487	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:33517487G>A	uc002nuf.3	-	2	303	c.237C>T	c.(235-237)ttC>ttT	p.F79F	RHPN2_uc010xro.2_5'UTR|RHPN2_uc002nue.3_5'UTR	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	79					signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CTGAGTTGACGAAGCTCAGCT	0.562000														68			113		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91766302	91766302	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:91766302C>T	uc010aty.3	-	20	3902	c.3748G>A	c.(3748-3750)Gag>Aag	p.E1250K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1250					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCTGGTTCTCGCCCATGGCG	0.652000														9			3		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721144	160721144	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:160721144A>G	uc003lys.1	-	10	1701	c.1483T>C	c.(1483-1485)Ttc>Ctc	p.F495L	GABRB2_uc011deh.1_Missense_Mutation_p.F296L|GABRB2_uc003lyr.1_Missense_Mutation_p.F457L|GABRB2_uc003lyt.1_Missense_Mutation_p.F457L	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	495					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACCACTGGGAAGAATATGCGG	0.463000														73			30		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110717531	110717531	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110717531C>T	uc009wfq.3	+	4	1163	c.702C>T	c.(700-702)gcC>gcT	p.A234A		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	234					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TCCTCGTGGCCTGGAGCATCG	0.602000														43			23		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42581868	42581868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:42581868C>T	uc003gwr.2	-	10	1194	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	ATP8A1_uc003gws.2_Missense_Mutation_p.R321Q|ATP8A1_uc011byz.1_Missense_Mutation_p.R321Q	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	321					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.R321Q(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AGAATGCCTTCGATTCCAAAT	0.338000														52			14		0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51465313	51465313	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:51465313C>T	uc001jio.3	-	6	1269	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	381	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.L380I(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TGCTTTTCTTCTTTAGGTGTT	0.517000														111			30		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20848472	20848472	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20848472G>A	uc001vxe.3	-	33	4965	c.4925C>T	c.(4924-4926)tCg>tTg	p.S1642L	TEP1_uc010ahk.3_Missense_Mutation_p.S985L|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.S1534L|TEP1_uc010tlh.1_5'UTR	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1642					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGAGAGCAGCGAGGCTTGGTG	0.587000														154			68		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17592160	17592160	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17592160C>T	uc001bai.3	+	3	393	c.353C>T	c.(352-354)tCt>tTt	p.S118F		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	118					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCAGACATCTCTCTGGATTGC	0.567000														84			40		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	95001514	95001514	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:95001514G>A	uc003unt.3	-	3	363	c.338C>T	c.(337-339)cCa>cTa	p.P113L	PON1_uc011kih.2_Intron|PON1_uc011kii.2_Missense_Mutation_p.P161L	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	114					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GATCCCATGTGGATTAAATAA	0.393000														93			35		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579556	82579556	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82579556C>T	uc003uhx.2	-	5	10637	c.10348G>A	c.(10348-10350)Gaa>Aaa	p.E3450K	PCLO_uc003uhv.2_Missense_Mutation_p.E3450K|PCLO_uc010lec.3_Missense_Mutation_p.E415K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3381					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						GTGGCATCTTCGTCATCCGTT	0.438000														68			30		0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1230951	1230951	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:1230951C>T	uc009xhq.3	-	8	2219	c.1893G>A	c.(1891-1893)ccG>ccA	p.P631P	ADARB2_uc001igj.2_Silent_p.P15P|ADARB2_uc001igl.4_5'UTR|ADARB2_uc001igm.4_Silent_p.P140P	NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	631	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)		GCGACTTCCCCGGCTGGCGCG	0.682000														39			6		0	0	1	0	0
PRNT	149830	broad.mit.edu	37	20	4713310	4713310	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:4713310G>A	uc002wlb.3	-	1		c.714C>T			PRNT_uc010zqp.2_Non-coding_Transcript|PRNT_uc010zqq.2_Non-coding_Transcript					Homo sapiens prion protein (testis specific) (PRNT), transcript variant 2, non-coding RNA.									p.L5F(2)		endometrium(2)|lung(5)	7						aagaaaacaagactatgctgc	0.488000														12			6		0	0	1	0	0
RHO	6010	broad.mit.edu	37	3	129251120	129251120	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:129251120C>T	uc003emt.3	+	2	652	c.557C>T	c.(556-558)tCg>tTg	p.S186L		NM_000539	NP_000530	P08100	OPSD_HUMAN	Homo sapiens rhodopsin (RHO), mRNA.	186			S -> P (in RP4).		protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CTGCAGTGCTCGTGTGGAATC	0.572000														62			23		0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8757480	8757480	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8757480C>T	uc001qur.2	-	3	545	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	AICDA_uc001qup.1_Missense_Mutation_p.E141K|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	156					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AAAGTTCTTTCGTGGTTTTCT	0.423000														92			45		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21755884	21755884	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:21755884G>A	uc010iuc.2	-	10	2159	c.1701C>T	c.(1699-1701)ctC>ctT	p.L567L	CDH12_uc011cno.1_Silent_p.L527L|CDH12_uc003jgk.2_Silent_p.L567L|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	567	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTACAACAGGGAGGAAATACA	0.453000										HNSCC(59;0.17)				22			33		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150440092	150440092	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150440092C>T	uc022apw.1	+	5	1617	c.1477C>T	c.(1477-1479)Cta>Tta	p.L493L	GIMAP1-GIMAP5_uc003whr.2_Silent_p.L289L	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		TTTTGTTTTTCTATTGTTGTG	0.398000														59			18		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55863771	55863771	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55863771G>A	uc003tqz.2	-	9	1251	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	378					cell cycle|cell division	septin complex	GTP binding|protein binding	p.F378F(2)|p.F167F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TAAGATGCTCGAACTTGTCCT	0.378000														33			15		0	0	1	0	0
HMGCL	3155	broad.mit.edu	37	1	24140689	24140689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24140689G>A	uc001bib.3	-	4	532	c.488C>T	c.(487-489)tCt>tTt	p.S163F	HMGCL_uc010oec.2_Intron|HMGCL_uc001bic.3_Missense_Mutation_p.S138F|HMGCL_uc009vqs.1_Intron|HMGCL_uc021oii.1_Intron	NM_000191	NP_000182	P35914	HMGCL_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMGCL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	163					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		CCCCCGCACAGAAATATTGGC	0.498000														68			29		0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34269257	34269257	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:34269257G>A	uc001wru.3	+	11	1808	c.1744G>A	c.(1744-1746)Gac>Aac	p.D582N	NPAS3_uc001wrs.3_Missense_Mutation_p.D569N|NPAS3_uc001wrv.3_Missense_Mutation_p.D552N|NPAS3_uc001wrt.3_Missense_Mutation_p.D550N	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CAGCGCCAAGGACTCGGACAG	0.672000														15			6		0	0	1	0	0
POLR3D	661	broad.mit.edu	37	8	22107731	22107731	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:22107731C>T	uc003xbl.3	+	7	1148	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	POLR3D_uc003xbm.3_Silent_p.S355S|POLR3D_uc011kze.2_Non-coding_Transcript	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	355					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CTGCCTGCTCCTTCCTGCAGG	0.562000														41			17		0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157737198	157737198	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157737198G>A	uc001fre.2	-	5	1044	c.985C>T	c.(985-987)Cca>Tca	p.P329S	FCRL2_uc001frd.2_Missense_Mutation_p.P76S|FCRL2_uc010phz.1_Missense_Mutation_p.P329S|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	329	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TACAAGATTGGGGGAGAGCCT	0.597000														89			37		0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79121182	79121182	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:79121182C>T	uc001dip.4	+	4	950	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	IFI44_uc010orr.1_Missense_Mutation_p.R276C|IFI44_uc010ors.1_5'UTR	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	Homo sapiens interferon-induced protein 44 (IFI44), mRNA.	276					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						CGGTAACATTCGTGATAGATA	0.353000														74			11		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920518	4920518	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4920518C>T	uc001qng.3	+	0	2177	c.1311C>T	c.(1309-1311)atC>atT	p.I437I	KCNA6_uc021qtr.1_Silent_p.I437I	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	437						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GGGGAAAGATCGTGGGCTCGC	0.592000										HNSCC(72;0.22)				69			25		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53233753	53233753	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53233753C>T	uc001sbc.1	-	6	1127	c.1063G>A	c.(1063-1065)Gcc>Acc	p.A355T		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	355	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GTGATGGCGGCCTGCAGGCTG	0.582000														27			14		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117221518	117221518	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:117221518C>T	uc001lcg.3	+	21	3776	c.3390C>T	c.(3388-3390)gcC>gcT	p.A1130A	ATRNL1_uc010qsm.2_Silent_p.A259A|ATRNL1_uc010qsn.2_Intron	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1130						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACCATACTGCCATAAACTTTA	0.308000														71			7		0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401213	11401213	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:11401213G>A	uc003gmq.3	-	1	740	c.417C>T	c.(415-417)tcC>tcT	p.S139S	HS3ST1_uc021xmg.1_Silent_p.S139S	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	139						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCAGCCGGATGGACGGGTTCA	0.587000														38			20		0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26672712	26672712	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26672712G>A	uc001bmd.4	-	1	587	c.437C>T	c.(436-438)cCc>cTc	p.P146L		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 3.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCCAGGCAGGGGAACCAAAAG	0.637000														51			10		0	0	1	0	0
ATL2	64225	broad.mit.edu	37	2	38525591	38525591	+	Missense_Mutation	SNP	G	A	A	rs116493165	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:38525591G>A	uc002rqq.3	-	11	1357	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	ATL2_uc010ynm.2_Missense_Mutation_p.R425C|ATL2_uc010ynn.2_Missense_Mutation_p.R425C|ATL2_uc010yno.2_Missense_Mutation_p.R272C|ATL2_uc002rqr.3_Missense_Mutation_p.R272C|ATL2_uc002rqs.3_Missense_Mutation_p.R443C	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	Homo sapiens atlastin GTPase 2 (ATL2), transcript variant 2, mRNA.	443					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TCCTGATAACGACGGCAGAAC	0.418000														217			17		0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	993927	993927	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:993927C>T	uc021qss.1	+	18	5380	c.4737C>T	c.(4735-4737)ccC>ccT	p.P1579P	WNK1_uc001qio.4_Silent_p.P1319P|WNK1_uc021qst.1_Silent_p.P1571P|WNK1_uc001qip.4_Silent_p.P1072P|WNK1_uc001qir.4_Silent_p.P492P	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1319					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAGAAGGACCCAACACAGCAC	0.483000														99			43		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173556856	173556856	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:173556856G>A	uc001giz.2	-	4	894	c.471C>T	c.(469-471)atC>atT	p.I157I	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	157					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TGCCAAGGGTGATGCTAAAGA	0.323000														81			19		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133883780	133883780	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133883780G>A	uc003ytw.3	+	3	503	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	154	Thyroglobulin type-1 2.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCGCCAGCTGGGGAGGCCAA	0.592000														20			13		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857232	9857232	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:9857232G>A	uc010uym.2	-	13	4479	c.4169C>T	c.(4168-4170)tCg>tTg	p.S1390L	GRIN2A_uc002czo.4_Missense_Mutation_p.S1390L|GRIN2A_uc010uyn.2_Missense_Mutation_p.R1119C|GRIN2A_uc002czr.4_Missense_Mutation_p.R1276C	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1390					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGATGGCAACGAGTGTTTGTA	0.552000														67			17		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10941926	10941926	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:10941926G>A	uc002yip.1	-	13	1145	c.777C>T	c.(775-777)ttC>ttT	p.F259F	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.F241F|TPTE_uc002yir.1_Silent_p.F221F|TPTE_uc010gkv.1_Silent_p.F121F	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	259	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R258Q(1)|p.R258R(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)		GATTTCTATAGAAAGACTGCC	0.313000														258			34		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7989509	7989509	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7989509C>T	uc002gjy.1	-	1	438	c.177G>A	c.(175-177)caG>caA	p.Q59Q	MIR4314_uc021tpn.1_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	59	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CACCCAGGTCCTGAGGGCACT	0.632000										Multiple Myeloma(8;0.094)				26			5		0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68244848	68244848	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:68244848G>A	uc001xka.2	-	23	4931	c.4792C>T	c.(4792-4794)Ctg>Ttg	p.L1598L	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Silent_p.L1598L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1598					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTTACTTGCAGAGCCTTGTCA	0.433000														168			10		0	0	1	0	0
GREM2	64388	broad.mit.edu	37	1	240656745	240656745	+	Silent	SNP	G	A	A	rs17857321		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240656745G>A	uc021plf.1	-	0	31	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	GREM2_uc001hys.3_Silent_p.L11L	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	Homo sapiens gremlin 2 (GREM2), mRNA.	11				L -> M (in Ref. 3; AAH46632).	BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			ACCGCCACCAGGAACAAGGAC	0.582000														15			3		0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84243513	84243513	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:84243513G>A	uc003hoj.4	-	1	331	c.232C>T	c.(232-234)Cca>Tca	p.P78S	HPSE_uc003hoi.3_Missense_Mutation_p.P78S|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_5'UTR|HPSE_uc003hok.4_Missense_Mutation_p.P78S|HPSE_uc011cct.2_Missense_Mutation_p.P78S|HPSE_uc021xpr.1_Missense_Mutation_p.P78S	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	78					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	CGAAGCTTTGGAGAACTGTTA	0.423000														21			12		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57730674	57730674	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:57730674G>A	uc010bfw.3	+	2	670	c.477G>A	c.(475-477)aaG>aaA	p.K159K	CGNL1_uc002aeg.3_Silent_p.K159K	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	159	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ACCCTGAAAAGAATGAGTTGA	0.433000														87			16		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177225145	177225145	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:177225145G>A	uc001glf.3	+	2	672	c.360G>A	c.(358-360)cgG>cgA	p.R120R	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_5'Flank	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	120						extracellular region				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						AGTTTATCCGGAACATTCGCC	0.483000											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		79			24		0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31917963	31917963	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:31917963G>A	uc021wuu.1	-	2	1170	c.499C>T	c.(499-501)Cga>Tga	p.R167*	OSBPL10_uc011axf.2_Nonsense_Mutation_p.R167*	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	167	PH.				lipid transport		lipid binding	p.L166R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GCACAAGCTCGAAGCTGAGTC	0.418000														45			21		0	0	1	0	0
CLEC10A	10462	broad.mit.edu	37	17	6979059	6979059	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:6979059C>T	uc002gek.3	-	6	969	c.666G>A	c.(664-666)agG>agA	p.R222R	CLEC10A_uc002gej.3_Silent_p.R198R|CLEC10A_uc010clv.2_Silent_p.R195R	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	Homo sapiens C-type lectin domain family 10, member A (CLEC10A), transcript variant 1, mRNA.	222	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CCTGCTCCTCCCTGGAGTTGA	0.537000														37			28		0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50660972	50660972	+	Missense_Mutation	SNP	G	A	A	rs144692967	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50660972G>A	uc003bkb.1	-	13	2832	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Missense_Mutation_p.R766W|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hat.1_5'UTR	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	774					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)		TTCTGCTCCCGACGAGCTGCC	0.567000														49			23		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7833869	7833869	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7833869G>A	uc010dvt.3	+	6	1313	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	CLEC4M_uc002mih.3_Missense_Mutation_p.E376K|CLEC4M_uc010xjw.2_Missense_Mutation_p.E332K|CLEC4M_uc010dvs.3_Missense_Mutation_p.E375K|CLEC4M_uc010xjx.2_Missense_Mutation_p.E348K|CLEC4M_uc002mhz.3_3'UTR|CLEC4M_uc002mic.3_3'UTR|CLEC4M_uc002mia.3_Missense_Mutation_p.E263K	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	399					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CTTCAGAGACGAATAGTTGTT	0.498000														64			17		0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158443811	158443811	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:158443811G>A	uc002tzk.4	-	1	435	c.192C>T	c.(190-192)gtC>gtT	p.V64V	ACVR1C_uc002tzl.4_Silent_p.V64V|ACVR1C_uc010fof.3_Silent_p.V64V|ACVR1C_uc010foe.3_Silent_p.V14V	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	64					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CTGGAAGGGAGACACAGGATT	0.423000														264			98		0	0	1	0	0
SLC31A1	1317	broad.mit.edu	37	9	116018469	116018469	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116018469C>T	uc004bgu.3	+	1	227	c.41C>T	c.(40-42)tCc>tTc	p.S14F	FKBP15_uc010muu.1_Intron|SLC31A1_uc004bgv.4_Missense_Mutation_p.S14F	NM_001859	NP_001850	O15431	COPT1_HUMAN	Homo sapiens solute carrier family 31 (copper transporters), member 1 (SLC31A1), mRNA.	14						integral to plasma membrane	copper ion transmembrane transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						TATATGGACTCCAACAGTACC	0.438000														60			20		0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109513549	109513549	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:109513549C>T	uc010fjn.3	-	11	1804	c.1257G>A	c.(1255-1257)gaG>gaA	p.E419E	EDAR_uc010yws.2_Silent_p.E419E|EDAR_uc002teq.4_Silent_p.E387E	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	387	Death.				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TGCCCCCAATCTCATCCCTCT	0.562000														44			11		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57136782	57136782	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:57136782C>T	uc002lib.3	-	3	393	c.323G>A	c.(322-324)cGa>cAa	p.R108Q		NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	108					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				ACACAGCACTCGGCCAAAGTT	0.522000														111			52		0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113638980	113638980	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:113638980C>T	uc001edf.1	+	7	1282	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	LRIG2_uc009wgn.1_Nonsense_Mutation_p.Q259*	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	362						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TTCCAATCTTCAGACATTGTA	0.323000														100			37		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41510233	41510233	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41510233G>A	uc002opr.1	+	2	373	c.366G>A	c.(364-366)aaG>aaA	p.K122K	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Silent_p.K82K	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	122					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ACCGCTGGAAGGTGCTTCGGC	0.552000														37			10		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65684548	65684548	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65684548G>A	uc002aou.1	-	10	2256	c.2046C>T	c.(2044-2046)ggC>ggT	p.G682G	IGDCC4_uc002aot.1_Silent_p.G270G	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	682	Fibronectin type-III 3.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGTCTCCACGGCCCCCTGGCA	0.647000														77			23		0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121458439	121458439	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:121458439C>T	uc001tzj.1	-	5	1476	c.1470G>A	c.(1468-1470)ggG>ggA	p.G490G	OASL_uc001tzk.1_3'UTR	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	490	Ubiquitin-like 2.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCCATAGATCCCCAGACCCA	0.517000														51			22		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94519661	94519661	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:94519661C>T	uc004arj.2	-	2	555	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	ROR2_uc004ari.1_5'UTR|ROR2_uc004ark.3_Missense_Mutation_p.R119Q	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	119	Ig-like C2-type.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GATTCGCAGTCGTGAACCATA	0.587000														136			39		0	0	1	0	0
HADHB	3032	broad.mit.edu	37	2	26486319	26486319	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:26486319C>T	uc002rgz.3	+	3	432	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	HADHB_uc010yku.1_Non-coding_Transcript|HADHB_uc010ykv.2_Missense_Mutation_p.R39C|HADHB_uc010ykw.2_Missense_Mutation_p.R61C	NM_000183	NP_000174	P55084	ECHB_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA.	61			R -> C (in TFP deficiency).|R -> H (in TFP deficiency).		fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGATGGTGTTCGCACTCCATT	0.348000														105			37		0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150647386	150647386	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150647386C>T	uc003wic.3	-	8	2669	c.2268G>A	c.(2266-2268)atG>atA	p.M756I	KCNH2_uc003wib.3_Missense_Mutation_p.M416I|KCNH2_uc011kux.2_Missense_Mutation_p.M660I|KCNH2_uc003wid.3_Missense_Mutation_p.M416I|KCNH2_uc003wie.3_Missense_Mutation_p.M756I	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	756					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TCTTGAACTTCATGGCCAGGG	0.637000														85			8		0	0	1	0	0
C20orf152	140894	broad.mit.edu	37	20	34611583	34611583	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34611583G>A	uc002xer.1	+	10	1473	c.1317G>A	c.(1315-1317)atG>atA	p.M439I	C20orf152_uc002xes.1_Intron|C20orf152_uc010gfp.1_Intron	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	443										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					TGATCCTGATGAGCCTGGGAA	0.443000														104			32		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42331169	42331169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42331169C>T	uc002xlb.1	+	7	1206	c.991C>T	c.(991-993)Cct>Tct	p.P331S	MYBL2_uc010zwj.1_Missense_Mutation_p.P307S	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	331						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P331H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ATTTGACCTCCCTGAGGAACC	0.522000														215			20		0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976805	47976806	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:47976805_47976806CC>TT	uc011dwm.2	-	1	505_506	c.471_472GG>AA	c.(469-474)gtggaa>gtAAaa	p.E158K	PTCHD4_uc011dwn.2_5'UTR|PTCHD4_uc003ozf.2_Missense_Mutation_p.E158K	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	158						integral to membrane	hedgehog receptor activity										TTTGGCACTTCCACTACCCCGC	0.480000														28			10		0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42127274	42127274	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42127274C>T	uc001zoo.4	+	2	365	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	JMJD7-PLA2G4B_uc001zom.2_Silent_p.L9L|JMJD7-PLA2G4B_uc001zon.2_Silent_p.L109L|JMJD7-PLA2G4B_uc010bcn.3_Silent_p.L109L|JMJD7-PLA2G4B_uc001zop.1_Silent_p.L9L|JMJD7-PLA2G4B_uc001zoq.4_5'Flank	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	0					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						CCGCCTGCCCCTGAGCTTCGT	0.652000														98			47		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	106993	106993	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000211.1:106993C>T	uc003boa.3	+	3		c.692C>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TGAAAGTGGTCACTCTCCTGG	0.408000														175			41		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22272156	22272156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22272156G>A	uc010ecx.3	+	3	1773	c.1604G>A	c.(1603-1605)aGa>aAa	p.R535K	ZNF257_uc010ecy.3_Missense_Mutation_p.R503K	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R535I(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTACATAAGAGAATTCATGCT	0.363000														37			23		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71740108	71740108	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:71740108C>T	uc003kce.1	-	4	1896	c.1710G>A	c.(1708-1710)agG>agA	p.R570R		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CGATTCTCCCCCTTCCCAGAC	0.597000														49			30		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168819864	168819864	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:168819864C>T	uc011bpj.1	-	10	3158	c.2755G>A	c.(2755-2757)Gag>Aag	p.E919K	MECOM_uc010hwk.1_Missense_Mutation_p.E745K|MECOM_uc003ffj.3_Missense_Mutation_p.E796K|MECOM_uc003ffi.3_Missense_Mutation_p.E731K|MECOM_uc011bpi.1_Missense_Mutation_p.E723K|MECOM_uc003ffn.3_Missense_Mutation_p.E731K|MECOM_uc003ffk.2_Missense_Mutation_p.E722K|MECOM_uc003ffl.2_Missense_Mutation_p.E882K|MECOM_uc011bpk.1_Missense_Mutation_p.E731K|MECOM_uc010hwn.2_Missense_Mutation_p.E910K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.T918A(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTATAGCGCTCCTTTCCCTTC	0.483000														43			13		0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85971439	85971439	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:85971439G>A	uc001kcv.3	+	13	1626	c.1521G>A	c.(1519-1521)gtG>gtA	p.V507V	CDHR1_uc001kcw.3_Silent_p.V507V|CDHR1_uc009xst.3_Silent_p.V211V|CDHR1_uc001kcx.3_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	507	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GGGGCGAAGTGAAATATTCCA	0.572000														145			64		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36166626	36166626	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:36166626C>T	uc003gsq.2	-	10	2421	c.2083G>A	c.(2083-2085)Gaa>Aaa	p.E695K	ARAP2_uc003gsr.1_Missense_Mutation_p.E695K	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	695	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						CTGTTGGATTCATTGAACCAA	0.433000														79			6		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160147345	160147345	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160147345T>G	uc001fve.4	+	17	3106	c.2627T>G	c.(2626-2628)tTt>tGt	p.F876C	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.F379C|ATP1A4_uc001fvh.3_Missense_Mutation_p.F12C	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	876					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.F876F(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTACCTACTTTGTAATCCTG	0.522000														87			29		0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99655718	99655719	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:99655718_99655719CC>TT	uc001kou.2	-	9	1596_1597	c.1240_1241GG>AA	c.(1240-1242)gga>AAa	p.G414K	CRTAC1_uc001kov.3_Missense_Mutation_p.G414K|CRTAC1_uc001kot.2_Missense_Mutation_p.G204K	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	414						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)		CATCCCGTCTCCGTCGAAGTCG	0.584000														68			6		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842129	5842129	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5842129G>A	uc010qzp.2	+	0	564	c.564G>A	c.(562-564)aaG>aaA	p.K188K	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTGGCCAAGGTATCCTGTG	0.478000														209			50		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587807	247587807	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247587807C>T	uc001icr.3	+	4	1200	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	NLRP3_uc001ics.3_Silent_p.A354A|NLRP3_uc001icu.3_Silent_p.A354A|NLRP3_uc001icw.3_Silent_p.A354A|NLRP3_uc001icv.3_Silent_p.A354A|NLRP3_uc010pyw.2_Silent_p.A352A|NLRP3_uc001ict.1_Silent_p.A352A	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	354	NACHT.		A -> V (in MWS).		detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.V353L(2)|p.A354D(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GACCTGTGGCCCTGGAGAAAC	0.557000														93			7		0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21239752	21239752	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:21239752C>T	uc002npj.3	+	4	819	c.638C>T	c.(637-639)tCg>tTg	p.S213L	ZNF430_uc002npk.3_Missense_Mutation_p.S212L	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TGTGACAAATCGTTTTGCATG	0.284000														27			9		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457945	45457945	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:45457945G>A	uc001rol.3	-	0		c.1250C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TCACTCTGAGGAATTTCTCTT	0.428000														93			8		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427641	119427641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:119427641G>A	uc001ehl.1	-	7	1520	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	TBX15_uc009whj.1_Missense_Mutation_p.A226V	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	508						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AAGGGAGAAGGCATTGTAGGA	0.537000														38			13		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167085308	167085308	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:167085308G>A	uc010fpl.3	-	21	4407	c.4066C>T	c.(4066-4068)Cgt>Tgt	p.R1356C	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1367						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1356H(1)|p.R1356L(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CATTCGGAACGATTTGGAACT	0.403000														205			54		0	0	1	0	0
C20orf152	140894	broad.mit.edu	37	20	34571961	34571961	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34571961C>T	uc002xer.1	+	4	621	c.465C>T	c.(463-465)ttC>ttT	p.F155F	C20orf152_uc002xes.1_Silent_p.F155F|C20orf152_uc010gfp.1_Intron	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	155										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					GCTTTTATTTCATCTACCTGG	0.522000														65			22		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458979	45458979	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:45458979C>T	uc001rol.3	-	0		c.216G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CCTTGTATTTCCCCAGCTCAT	0.433000														28			12		0	0	1	0	0
LOC283867	283867	broad.mit.edu	37	16	65345360	65345360	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:65345360G>A	uc010cdo.1	-	4		c.436C>T			LOC283867_uc010cdp.1_Intron|LOC283867_uc002eol.1_Non-coding_Transcript					Homo sapiens uncharacterized LOC283867 (LOC283867), non-coding RNA.																OV - Ovarian serous cystadenocarcinoma(108;0.17)		ATGCCTTCACGAATGTATGCC	0.468000														113			39		0	0	1	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43283595	43283595	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:43283595G>A	uc001mxe.1	-	1		c.1341C>T								Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA.																		TTTTTAAACAGAAGCAAATGT	0.388000														1			4		0	0	1	0	0
CSNK1E	1454	broad.mit.edu	37	22	38690525	38690525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38690525G>A	uc003avj.3	-	7	1162	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	CSNK1E_uc003avk.3_Missense_Mutation_p.P301S|CSNK1E_uc003avm.2_Missense_Mutation_p.P301S	NM_152221	NP_689407	P49674	KC1E_HUMAN	Homo sapiens casein kinase 1, epsilon (CSNK1E), transcript variant 1, mRNA.	301					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					ACATCCTCGGGATTCCGGGCT	0.692000														8			5		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450550	107450550	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:107450550C>T	uc002tdq.3	-	2	1115	c.996G>A	c.(994-996)gaG>gaA	p.E332E	ST6GAL2_uc002tdr.3_Silent_p.E332E|ST6GAL2_uc002tds.3_Silent_p.E332E	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	332					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CAACATCTTTCTCATAACCAC	0.388000														105			35		0	0	1	0	0
MEF2B	100271849	broad.mit.edu	37	19	19257422	19257422	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19257422G>A	uc002nlp.2	-	8	1438	c.711C>T	c.(709-711)tcC>tcT	p.S237S	MEF2B_uc002nll.2_Silent_p.S237S|MEF2B_uc010xqo.1_Silent_p.S237S|MEF2B_uc010xqp.1_Silent_p.S237S|MEF2B_uc002nlo.2_Silent_p.S237S|MEF2B_uc002nlk.2_Silent_p.S240S	NM_005919	NP_005910			Homo sapiens MEF2BNB-MEF2B readthrough (MEF2BNB-MEF2B), transcript variant 1, mRNA.											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GAGTTGCAGTGGAGCAGGGGT	0.672000														18			7		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87487804	87487804	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:87487804C>T	uc001kdl.1	-	9	1442	c.1341G>A	c.(1339-1341)gaG>gaA	p.E447E	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Silent_p.E18E	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	447						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCACGAAAGGCTCTTCCTGAG	0.448000										Multiple Myeloma(13;0.14)				108			46		0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087283	49087283	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49087283G>A	uc001rsd.4	-	8	2037	c.1714C>T	c.(1714-1716)Cgt>Tgt	p.R572C	CCNT1_uc009zkz.2_Missense_Mutation_p.R287C|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	572	Ser-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CCCCTTTTACGAGTAGAACTG	0.443000														121			46		0	0	1	0	0
SCAMP3	10067	broad.mit.edu	37	1	155227153	155227153	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155227153G>A	uc001fjs.3	-	6	936	c.702C>T	c.(700-702)ttC>ttT	p.F234F	FAM189B_uc001fjm.3_5'Flank|FAM189B_uc001fjn.3_5'Flank|FAM189B_uc001fjo.3_5'Flank|FAM189B_uc001fjp.3_5'Flank|FAM189B_uc001fjq.1_5'Flank|SCAMP3_uc001fjt.3_Silent_p.F208F	NM_005698	NP_005689	O14828	SCAM3_HUMAN	Homo sapiens secretory carrier membrane protein 3 (SCAMP3), transcript variant 1, mRNA.	234					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGAAGAAAACGAAGAAATTGA	0.488000														22			6		0	0	1	0	0
DIRC2	84925	broad.mit.edu	37	3	122598136	122598136	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122598136C>T	uc003efw.4	+	8	1487	c.1348C>T	c.(1348-1350)Ccc>Tcc	p.P450S	DIRC2_uc010hrl.3_Non-coding_Transcript|DIRC2_uc010hrm.3_Missense_Mutation_p.P288S|BC042374_uc003efx.1_Non-coding_Transcript	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	Homo sapiens disrupted in renal carcinoma 2 (DIRC2), mRNA.	450					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		CTGGTGCCTTCCCGGGTCGTG	0.458000														268			136		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50264894	50264894	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:50264894C>T	uc001zxu.3	-	12	1270	c.1128G>A	c.(1126-1128)acG>acA	p.T376T	ATP8B4_uc010ber.3_Silent_p.T249T|ATP8B4_uc010ufd.2_Silent_p.T249T|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	376					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			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGAGCGTGGTCGTTCGAGCCA	0.418000														44			16		0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	60228238	60228238	+	Silent	SNP	G	A	A	rs137970847	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:60228238G>A	uc009wac.3	+	16	1922	c.1710G>A	c.(1708-1710)gcG>gcA	p.A570A	FGGY_uc001czi.4_Silent_p.A546A|FGGY_uc001czl.4_Silent_p.A458A|FGGY_uc001czm.4_Silent_p.A247A	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	546					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AGTATTTGGCGATCATGAATG	0.403000														30			8		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429431	48429431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48429431G>A	uc001jfb.3	-	1	883	c.455C>T	c.(454-456)cCg>cTg	p.P152L	GDF10_uc009xnp.3_Missense_Mutation_p.P151L|GDF10_uc009xnq.2_Missense_Mutation_p.P152L	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	152					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CTTGGCCCGCGGCTTGCATAG	0.652000														17			3		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508103	37508103	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:37508103G>A	uc021ppc.1	+	33	3394	c.3295G>A	c.(3295-3297)Gaa>Aaa	p.E1099K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E1099K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1155						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E1098K(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACTGAAAGAGGAATCATTAAC	0.338000														167			69		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701424	56701424	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56701424G>A	uc010ygh.2	-	3	1260	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	420					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACTCGTGGGCGAACCGCTTTT	0.567000														55			20		0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92347740	92347740	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:92347740C>T	uc010aue.3	-	9	1481	c.1008G>A	c.(1006-1008)agG>agA	p.R336R	FBLN5_uc010aud.3_Silent_p.R300R|FBLN5_uc001xzx.4_Silent_p.R295R	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	295					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				ACGTGTGGTTCCTGTGCTCAC	0.557000														72			29		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468954	56468954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:56468954C>T	uc021wzo.1	-	0	222	c.82G>A	c.(82-84)Ggc>Agc	p.G28S	ERC2_uc003dhr.1_Missense_Mutation_p.G28S	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	28						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTTCGGTGGCCCAAACGAGGA	0.498000														57			20		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003723	122003723	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122003723C>T	uc003eew.4	+	6	3390	c.2952C>T	c.(2950-2952)acC>acT	p.T984T	CASR_uc003eev.4_Silent_p.T974T	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	974					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)	GCACGGTCACCTTCTCACTGA	0.577000														45			15		0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59272864	59272864	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:59272864G>A	uc001sqr.3	-	13	2071	c.1825C>T	c.(1825-1827)Ccc>Tcc	p.P609S	LRIG3_uc009zqh.3_Missense_Mutation_p.P549S|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	609	Ig-like C2-type 2.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AGATCCATGGGGGTCTTGGTG	0.527000			T	ROS1	NSCLC									30			19		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14841576	14841576	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:14841576G>A	uc003zlm.3	-	10	2566	c.1750C>T	c.(1750-1752)Cat>Tat	p.H584Y	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	584					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGAAGCCATGGACAGGATAG	0.368000														94			51		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36755299	36755299	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:36755299C>T	uc001cae.4	+	4	1903	c.1679C>T	c.(1678-1680)tCc>tTc	p.S560F	THRAP3_uc001caf.4_Missense_Mutation_p.S560F|THRAP3_uc001cag.1_Missense_Mutation_p.S560F	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	560					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGAAAGTCTTCCTTTTCCATT	0.502000			T	USP6	aneurysmal bone cysts									100			28		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45556204	45556204	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:45556204G>A	uc010dnv.3	-	3	1789	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	ZBTB7C_uc002ldb.3_Silent_p.F429F|ZBTB7C_uc010dnu.3_Silent_p.F438F|ZBTB7C_uc010dnw.3_Silent_p.F429F	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	429						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGTTGTGCACGAACTTGGCGT	0.592000														51			6		0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53515095	53515095	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53515095G>A	uc001sbv.3	+	11	1234	c.1146G>A	c.(1144-1146)tgG>tgA	p.W382*	SOAT2_uc009zms.3_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	382					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						AGGACTGGTGGAACTCAACGT	0.592000														46			23		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24170931	24170931	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24170931C>T	uc003xdy.3	+	5	497	c.414C>T	c.(412-414)taC>taT	p.Y138Y	ADAM28_uc003xdx.3_Silent_p.Y138Y|ADAM28_uc011kzz.2_Intron|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	138					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATCAAAGATACTTTATTGAAC	0.403000														58			13		0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71571673	71571673	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71571673G>A	uc021tkt.1	+	0	1093	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	CHST4_uc002fan.3_Missense_Mutation_p.E365K|CHST4_uc002fao.3_Missense_Mutation_p.E365K	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	365					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CGTCAGATCTGAACAAGAACA	0.522000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		71			28		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612497	96612497	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96612497G>A	uc010qnz.2	+	8	1299	c.1299G>A	c.(1297-1299)cgG>cgA	p.R433R	CYP2C19_uc010qny.2_Silent_p.R411R	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	433			R -> W (in allele CYP2C19*5A and allele CYP2C19*5B; loss of activity; dbSNP:rs56337013).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.R433W(1)|p.R433Q(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CAGGAAAACGGATTTGTGTGG	0.433000														94			32		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34166234	34166234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34166234C>T	uc001bxm.1	-	22	3793	c.3616G>A	c.(3616-3618)Gtt>Att	p.V1206I	CSMD2_uc001bxn.1_Missense_Mutation_p.V1166I|CSMD2_uc001bxo.1_Missense_Mutation_p.V79I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1166	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGCTAAAAACTCCCAGCAAA	0.498000														95			45		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329710	152329710	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152329710G>A	uc001ezw.4	-	2	625	c.552C>T	c.(550-552)tcC>tcT	p.S184S	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	184	Ser-rich.						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)			GACCACAGCTGGACCTGTGGT	0.468000														154			68		0	0	1	0	0
TRIB3	57761	broad.mit.edu	37	20	377122	377122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:377122C>T	uc002wdn.3	+	4	1263	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	TRIB3_uc002wdm.3_Missense_Mutation_p.R289C	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	Homo sapiens tribbles homolog 3 (Drosophila) (TRIB3), mRNA.	289	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of MAP kinase activity|regulation of glucose transport|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GGCCCCTGCCCGCTGTCTGGT	0.692000														85			36		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345124	20345124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20345124C>T	uc001vwh.1	+	0	698	c.698C>T	c.(697-699)tCa>tTa	p.S233L		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G232R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCAGAGGATCATCTAAGGCC	0.388000														141			54		0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71269569	71269569	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:71269569C>T	uc003pfj.3	+	19	4626	c.4493C>T	c.(4492-4494)tCg>tTg	p.S1498L	FAM135A_uc003pfi.3_Missense_Mutation_p.S1302L|FAM135A_uc003pfh.3_Missense_Mutation_p.S1285L|FAM135A_uc003pfl.3_Missense_Mutation_p.S1165L|FAM135A_uc003pfn.3_Missense_Mutation_p.S704L|FAM135A_uc010kan.2_Missense_Mutation_p.S240L|FAM135A_uc003pfp.3_Missense_Mutation_p.S62L	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	1498										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GTTCTTGATTCGGAAATATTT	0.373000														22			20		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20506951	20506951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:20506951G>A	uc002wrz.3	-	27	3781	c.3638C>T	c.(3637-3639)tCc>tTc	p.S1213F	RALGAPA2_uc002wry.3_Missense_Mutation_p.S828F|RALGAPA2_uc010zsg.2_Missense_Mutation_p.S661F|RALGAPA2_uc002wsa.1_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1213					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTCCCAGTAGGAAACCAGCAA	0.408000														36			4		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40208396	40208396	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:40208396G>A	uc003cka.3	+	5	745	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.E204K|MYRIP_uc010hhw.3_Missense_Mutation_p.E115K|MYRIP_uc011ayz.2_Missense_Mutation_p.E17K	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	204	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GGCCATTGAGGAAGCAATTTC	0.552000														70			27		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33505192	33505192	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:33505192G>A	uc021vft.1	+	18	3102	c.3079G>A	c.(3079-3081)Gaa>Aaa	p.E1027K	LTBP1_uc002rou.3_Missense_Mutation_p.E701K|LTBP1_uc002rov.3_Missense_Mutation_p.E648K|LTBP1_uc010ymz.2_Missense_Mutation_p.E701K|LTBP1_uc010yna.2_Missense_Mutation_p.E648K	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1027	EGF-like 7; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCCCTGCACAGAAGGATTCCG	0.423000														82			15		0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101865230	101865230	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:101865230G>A	uc002bxa.2	-	17	2513	c.2199C>T	c.(2197-2199)ccC>ccT	p.P733P	PCSK6_uc010bpd.3_Silent_p.P530P|PCSK6_uc002bwy.3_Silent_p.P733P|PCSK6_uc010bpe.3_Silent_p.P717P|PCSK6_uc002bxb.2_Silent_p.P720P	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	734	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGTAGCCCAAGGGGCACACAC	0.637000														38			5		0	0	1	0	0
RTBDN	83546	broad.mit.edu	37	19	12939536	12939536	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12939536G>A	uc002mvj.3	-	4	714	c.396C>T	c.(394-396)cgC>cgT	p.R132R	RTBDN_uc002mvh.1_Silent_p.R132R|RTBDN_uc002mvi.3_Silent_p.R100R|RTBDN_uc021upo.1_Silent_p.R110R	NM_031429	NP_001074466	Q9BSG5	RTBDN_HUMAN	Homo sapiens retbindin (RTBDN), transcript variant 2, mRNA.	100						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						GCAGGCGGAAGCGACTGCGAA	0.652000														88			15		0	0	1	0	0
FAM3D	131177	broad.mit.edu	37	3	58639509	58639509	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58639509C>T	uc003dkq.3	-	3	311	c.14_splice	c.e3-1	p.G5_splice		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	Homo sapiens family with sequence similarity 3, member D (FAM3D), mRNA.	5					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CGAAGCACACCTGCTGAGCAA	0.532000														71			8		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104213	53104213	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:53104213C>T	uc003tpz.3	+	0	865	c.849C>T	c.(847-849)ttC>ttT	p.F283F		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	283								p.F283L(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGTCTCCTTCGCCCTCGAGG	0.617000														66			25		0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891498	5891498	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:5891498C>T	uc002kmx.1	-	0	606	c.565G>A	c.(565-567)Gag>Aag	p.E189K		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	189						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TCCCGGTTCTCGTGGAGGACC	0.602000														14			7		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825276	4825276	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4825276G>A	uc021qcs.1	-	0	335	c.335C>T	c.(334-336)tCt>tTt	p.S112F		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGACTCCACAGAAGAAAAGGC	0.522000														98			27		0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72360605	72360605	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72360605G>A	uc009xqg.3	-	1	215	c.54C>T	c.(52-54)ccC>ccT	p.P18P	PRF1_uc001jrf.4_Silent_p.P18P	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	18					apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGGCAGGGACGGGCAGGGGCA	0.677000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					18			5		0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104370702	104370702	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:104370702C>T	uc001tkg.3	+	1	253	c.30C>T	c.(28-30)tcC>tcT	p.S10S	TDG_uc010swh.1_Silent_p.S10S|TDG_uc009zuk.3_Silent_p.S6S|TDG_uc010swi.2_Intron|TDG_uc010swj.2_5'Flank	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	10					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TCAGCTATTCCCTTCAGCAAG	0.353000								Base excision repair (BER), DNA glycosylases						40			15		0	0	1	0	0
ALG1	56052	broad.mit.edu	37	16	5125427	5125427	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:5125427C>T	uc002cym.3	+	3	470	c.429C>T	c.(427-429)ttC>ttT	p.F143F	ALG1_uc002cyj.3_Silent_p.F32F|ALG1_uc010bue.3_Silent_p.F32F	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	Homo sapiens asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) (ALG1), mRNA.	143					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TCTGCTGGTTCGTGGGCTGCC	0.542000														130			46		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7042193	7042193	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:7042193G>A	uc002knm.3	-	8	1306	c.1212C>T	c.(1210-1212)tcC>tcT	p.S404S	LAMA1_uc010wzj.2_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	404	Laminin EGF-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGAACTGAGGGACCCCACAG	0.448000														30			10		0	0	1	0	0
PRKY	5616	broad.mit.edu	37	Y	7239831	7239831	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:7239831C>T	uc004fre.3	+	6		c.1282C>T								Homo sapiens protein kinase, Y-linked, pseudogene (PRKY), non-coding RNA.											large_intestine(2)|lung(3)|skin(1)	6						CTTCCAACTTCGAAACTTACC	0.527000														8			14		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51975321	51975321	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51975321G>A	uc002abh.3	+	3	584	c.181_splice	c.e3+1	p.E61_splice	SCG3_uc010ufz.2_Splice_Site	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	61					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ATATCCTCCAGGTAAAAAGAA	0.348000														118			56		0	0	1	0	0
CYYR1	116159	broad.mit.edu	37	21	27938585	27938585	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:27938585G>A	uc002yme.3	-	2	498	c.176_splice	c.e2+1	p.S59_splice	CYYR1_uc002ymd.3_Splice_Site_p.S59_splice|CYYR1_uc011ack.2_Splice_Site	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	59						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GAATACTCACGAGAGGATATT	0.433000														32			10		0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778532	31778532	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31778532C>T	uc003nxh.3	-	1	1401	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	HSPA1L_uc010jte.3_Silent_p.E406E|HSPA1L_uc021yuz.1_Silent_p.E406E	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	406					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CCCCAGCCGTCTCCAGCCCCA	0.607000														108			22		0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	63847976	63847976	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:63847976C>T	uc002jfl.3	-	20	2559	c.2340G>A	c.(2338-2340)atG>atA	p.M780I	CEP112_uc010deo.3_Missense_Mutation_p.M522I|CEP112_uc002jfm.3_Missense_Mutation_p.M780I|CEP112_uc010dep.2_Missense_Mutation_p.M738I	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.	780						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GCTCTATTTTCATCTTTTCTG	0.388000														167			73		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101720309	101720309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:101720309G>A	uc001vox.1	-	38	4596	c.4407C>T	c.(4405-4407)caC>caT	p.H1469H		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1469						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTATTTGAAAGTGGCGAAGAT	0.363000														53			17		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51171299	51171299	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:51171299G>A	uc021tif.1	-	2	3730	c.3408C>T	c.(3406-3408)ttC>ttT	p.F1136F	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Silent_p.F85F	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1233					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACTGATTCCAGAAGCTGGAAG	0.542000														36			15		0	0	1	0	0
RPL23P8	222901	broad.mit.edu	37	7	20867367	20867367	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:20867367G>A	uc011jyj.1	+	0		c.451G>A								Homo sapiens ribosomal protein L23 pseudogene 8 (RPL23P8), non-coding RNA.																		AGCATTGCGTGATTCTCCAGT	0.388000														46			19		0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965719	22965719	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22965719C>T	uc001bfy.3	+	2	642	c.557C>T	c.(556-558)tCc>tTc	p.S186F		NM_015991	NP_057075	P02745	C1QA_HUMAN	Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	186	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		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;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	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)	GTCCGACGCTCCCTGGGCTTC	0.592000														63			14		0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74595936	74595936	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74595936G>A	uc002skx.3	-	15	2091	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F	DCTN1_uc002skv.3_Silent_p.F457F|DCTN1_uc002sku.3_Silent_p.F457F|DCTN1_uc002skw.2_Silent_p.F584F|DCTN1_uc010ffd.3_Silent_p.F571F|DCTN1_uc002sky.3_Silent_p.F554F	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	591					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TGTCAGGCATGAAGGCTGTCA	0.547000														78			26		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119961497	119961497	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:119961497G>A	uc001txe.3	+	11	1569	c.1104_splice	c.e11-1	p.N368_splice	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	368										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TGTGTCCACAGCCGCACTAAT	0.567000														50			5		0	0	1	0	0
MRPL38	64978	broad.mit.edu	37	17	73900778	73900778	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73900778G>A	uc010wso.1	-	1	315	c.90C>T	c.(88-90)ccC>ccT	p.P30P	FBF1_uc002jqa.1_Non-coding_Transcript|MRPL38_uc002jpz.1_Non-coding_Transcript	NM_032478	NP_115867	Q96DV4	RM38_HUMAN	Homo sapiens mitochondrial ribosomal protein L38 (MRPL38), nuclear gene encoding mitochondrial protein, mRNA.	30						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCCCAGCGGGGGTGTCCGGC	0.721000														11			5		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84438821	84438821	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84438821G>A	uc010chj.3	+	2	387	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ATP2C2_uc002fhx.3_Missense_Mutation_p.E100K|ATP2C2_uc002fhy.3_Missense_Mutation_p.E117K|ATP2C2_uc002fhz.3_5'Flank	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	100					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TGACAACAGCGAACCTGTGTG	0.547000														42			5		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449568	85449568	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:85449568G>A	uc001tac.3	+	7	1108	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	LRRIQ1_uc021rbo.1_Missense_Mutation_p.E211K|LRRIQ1_uc001taa.1_Missense_Mutation_p.E308K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	333	Glu-rich.							p.E333*(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		acaaaaggaggaagaaaatcg	0.333000														13			12		0	0	1	0	0
MICU1	10367	broad.mit.edu	37	10	74167714	74167714	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:74167714G>A	uc001jtb.2	-	9	1336	c.1153C>T	c.(1153-1155)Cat>Tat	p.H385Y	MIR1256_uc021pth.1_Intron|MICU1_uc010qjx.2_Missense_Mutation_p.H187Y|MICU1_uc010qjw.2_Missense_Mutation_p.H187Y|MICU1_uc009xqo.2_Non-coding_Transcript	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN	Homo sapiens mitochondrial calcium uptake 1 (MICU1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	385					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										CCAGCCATATGGTAAAAACTC	0.403000														41			12		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156917205	156917205	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156917205G>A	uc001fqo.3	-	24	3299	c.2259C>T	c.(2257-2259)ctC>ctT	p.L753L	ARHGEF11_uc010phu.2_Silent_p.L169L|ARHGEF11_uc001fqn.3_Silent_p.L793L	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	753	DH.				G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAGGACCCGGAGTGTGCGCA	0.562000														26			15		0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70420231	70420231	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70420231G>A	uc001xlt.2	+	2	642	c.360G>A	c.(358-360)gaG>gaA	p.E120E	SMOC1_uc001xls.2_Silent_p.E120E	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	120	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AGTGTGGCGAGGATGGCTCCT	0.617000														82			11		0	0	1	0	0
DL492607	0	broad.mit.edu	37	11	113661535	113661535	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113661535C>T	uc001pof.1	+	0		c.1583C>T								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		CTTCCCCTTTCCCCAGGGGTC	0.542000														118			10		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170805230	170805230	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:170805230G>A	uc003fhh.2	-	23	3132	c.2787C>T	c.(2785-2787)ctC>ctT	p.L929L	TNIK_uc003fhi.2_Silent_p.L874L|TNIK_uc003fhj.2_Silent_p.L900L|TNIK_uc003fhk.2_Silent_p.L921L|TNIK_uc003fhl.2_Silent_p.L845L|TNIK_uc003fhm.2_Silent_p.L866L|TNIK_uc003fhn.2_Silent_p.L892L|TNIK_uc003fho.2_Silent_p.L837L|TNIK_uc003fhg.2_Silent_p.L107L	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	929	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCAGGTCAGGGAGGTTGATGT	0.592000														83			26		0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825409	64825409	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64825409C>T	uc001ocn.3	-	2	434	c.418G>A	c.(418-420)Gag>Aag	p.E140K	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	140					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.G139V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CCCCCTTGCTCCCCGGTCACG	0.647000														83			37		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832027	61832027	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61832027G>A	uc001jky.3	-	36	8950	c.8612C>T	c.(8611-8613)tCg>tTg	p.S2871L	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.	2871					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.S2871L(2)		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						AAGTACATGCGAAAGTTTTTC	0.398000														88			34		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17190305	17190305	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17190305A>G	uc001mmq.4	-	0	1049	c.984T>C	c.(982-984)ctT>ctC	p.L328L	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Silent_p.L328L|PIK3C2A_uc009ygv.1_Silent_p.L328L	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	328					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TTGCCACAGAAAGGGATTTTC	0.398000														163			32		0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	36983516	36983516	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:36983516G>A	uc003aps.2	-	1	360	c.291C>T	c.(289-291)ttC>ttT	p.F97F		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	97					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						ACTCACGGAGGAAATATTCTG	0.512000														94			41		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349971	100349971	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100349971C>T	uc003uwj.3	+	13	2408	c.2243C>T	c.(2242-2244)cCc>cTc	p.P748L	ZAN_uc003uwk.3_Missense_Mutation_p.P748L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	748	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCACCATCCCCACAGAAAAA	0.522000														61			28		0	0	1	0	0
RPL13AP20	387841	broad.mit.edu	37	12	13028629	13028629	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:13028629C>T	uc010sho.2	+	0	219	c.197C>T	c.(196-198)cCt>cTt	p.P66L						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		AACAGCAACCCTTCCCGAGGC	0.582000														19			14		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142176561	142176561	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:142176561G>A	uc003eux.4	-	44	7662	c.7540C>T	c.(7540-7542)Cgc>Tgc	p.R2514C	ATR_uc003euy.1_Missense_Mutation_p.R400C	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2514	PI3K/PI4K.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGAGTCAGGCGAAATGGCACA	0.368000								Other conserved DNA damage response genes						63			28		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104440363	104440363	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:104440363G>A	uc004elz.1	+	2	1045	c.289G>A	c.(289-291)Gag>Aag	p.E97K		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	97	Ig-like C2-type 1.				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						GATGAGCAAAGAGGAAGATTC	0.448000														24			35		0	0	1	0	0
MPZ	4359	broad.mit.edu	37	1	161276165	161276165	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161276165G>A	uc001gaf.4	-	3	605	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W		NM_000530	NP_000521	P25189	MYP0_HUMAN	Homo sapiens myelin protein zero (MPZ), mRNA.	180					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAGCAGTACCGAACCACGTAG	0.647000														85			42		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666689	167666689	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167666689G>A	uc001gem.3	+	5	1015	c.828G>A	c.(826-828)ccG>ccA	p.P276P	RCSD1_uc010pli.2_Silent_p.P246P	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	276	RCSD.							p.P276L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GCCAGCACCCGGCCCAAGAGG	0.632000														13			5		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219875364	219875364	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219875364G>A	uc002vjl.1	-	25	4296	c.4212C>T	c.(4210-4212)ggC>ggT	p.G1404G		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1404						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGGTTGTAGCCCACTCCCT	0.592000														14			7		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28465784	28465784	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:28465784G>A	uc001zbj.3	-	36	5765	c.5659C>T	c.(5659-5661)Cct>Tct	p.P1887S		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1887	MIB/HERC2.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTGGAGGAGGCCCATCCTGA	0.582000														90			34		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42225911	42225911	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:42225911G>A	uc003ose.2	-	9	2921	c.2358C>T	c.(2356-2358)gtC>gtT	p.V786V	TRERF1_uc011duq.1_Silent_p.V683V|TRERF1_uc003osb.2_Silent_p.V522V|TRERF1_uc003osc.2_Silent_p.V522V|TRERF1_uc003osd.2_Silent_p.V766V	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	766	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCCTGGGGTGACCGTCACGT	0.433000														35			15		0	0	1	0	0
KLK12	43849	broad.mit.edu	37	19	51534092	51534092	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51534092C>T	uc002pvh.1	-	4	660	c.543G>A	c.(541-543)acG>acA	p.T181T	KLK11_uc002pvb.2_5'Flank|KLK11_uc002pvf.1_5'Flank|KLK12_uc002pvg.1_Silent_p.T181T|KLK12_uc010ycp.1_Non-coding_Transcript|KLK12_uc010ycq.1_Silent_p.T71T|KLK12_uc010ycr.1_Silent_p.T71T|KLK12_uc010ycs.1_Missense_Mutation_p.E95K|KLK12_uc002pvi.1_Silent_p.T181T|KLK12_uc002pvj.1_Missense_Mutation_p.E95K	NM_019598	NP_062544	Q9UKR0	KLK12_HUMAN	Homo sapiens kallikrein-related peptidase 12 (KLK12), transcript variant 1, mRNA.	181	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)		CCATGTTGCTCGTGATTCTCC	0.617000														123			59		0	0	1	0	0
CA9	768	broad.mit.edu	37	9	35679199	35679199	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35679199C>T	uc003zxo.4	+	6	967	c.925C>T	c.(925-927)Cca>Tca	p.P309S		NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	309	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACTCAGGTCCCAGGACTGGA	0.537000														258			24		0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8947545	8947545	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:8947545C>T	uc001mhb.4	-	4	793	c.669G>A	c.(667-669)gaG>gaA	p.E223E	C11orf16_uc001mhc.4_Silent_p.E223E	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA.	223								p.E223V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TGTGCAGCCTCTCCACAGCCT	0.557000														100			32		0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11448054	11448054	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11448054G>A	uc002mqx.3	-	1	283	c.22C>T	c.(22-24)Cag>Tag	p.Q8*		NM_004283	NP_004274	O95716	RAB3D_HUMAN	Homo sapiens RAB3D, member RAS oncogene family (RAB3D), mRNA.	8					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GGGCCTGCCTGGGTGTCTCCA	0.557000														104			39		0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153430313	153430313	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153430313C>T	uc001fbv.1	-	2	346	c.275G>A	c.(274-276)gGa>gAa	p.G92E		NM_002963	NP_002954	P31151	S10A7_HUMAN	Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.	92					angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCGCTGCTCCATGGCTCTG	0.517000														86			33		0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47222299	47222299	+	Silent	SNP	C	T	T	rs151317740	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:47222299C>T	uc010fbb.3	+	7	1394	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	TTC7A_uc002rvm.3_Silent_p.I308I|TTC7A_uc002rvn.1_Silent_p.I223I|TTC7A_uc002rvo.3_Silent_p.I342I|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Silent_p.I223I|TTC7A_uc002rvq.3_Silent_p.I82I|TTC7A_uc002rvr.3_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	342							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AGGACAACATCGAGGAAGCCC	0.597000														35			15		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566490	55566490	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:55566490C>T	uc010qhq.2	-	34	5287	c.4892G>A	c.(4891-4893)aGg>aAg	p.R1631K	PCDH15_uc010qhr.2_Missense_Mutation_p.R1626K	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, mRNA.	0					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	p.A1631V(1)		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)				GCTTTTCAGCCTGTTCCTTAG	0.448000										HNSCC(58;0.16)				225			97		0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	14	36840769	36840769	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:36840769G>A	uc001wtp.3	+	0	400	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	51			E -> Q (in dbSNP:rs2024320).			cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CGCTAGTAGCGAATCTGTTTC	0.502000														26			14		0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869243	174869243	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:174869243G>A	uc003mcz.3	-	1	1805	c.860C>T	c.(859-861)cCt>cTt	p.P287L	DRD1_uc021yia.1_Missense_Mutation_p.P287L	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	287					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GATGAAGAAAGGTAGCCAACA	0.463000														34			14		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8200926	8200927	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8200926_8200927GG>AA	uc002mjf.3	-	11	1526_1527	c.1509_1510CC>TT	c.(1507-1512)ggccgc>ggTTgc	p.R504C		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	504	EGF-like 5; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.R504L(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTGACACAGCGGCCCAGGTGAC	0.634000														25			7		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502394	90502394	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90502394G>A	uc004app.4	+	3	3027	c.2992G>A	c.(2992-2994)Gag>Aag	p.E998K		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	998						integral to membrane											GGCTGGGAACGAGGCATGGCT	0.582000														52			10		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47401285	47401285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47401285G>A	uc001cqp.4	-	4	596	c.545C>T	c.(544-546)cCt>cTt	p.P182L	CYP4A11_uc001cqq.2_Missense_Mutation_p.P182L|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	182					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GACCTCCAGAGGGGAATCCTG	0.542000														59			12		0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862608	25862608	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:25862608C>T	uc003nfk.4	-	2	266	c.156G>A	c.(154-156)acG>acA	p.T52T	SLC17A3_uc003nfi.4_Silent_p.T52T|SLC17A3_uc011djz.1_Silent_p.T52T|SLC17A3_uc011dka.1_Silent_p.T52T	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	52					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TTTGTGCTATCGTTGTGAAAT	0.413000														119			28		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52596062	52596062	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:52596062G>A	uc001jjj.3	-	5	564	c.376C>T	c.(376-378)Ctc>Ttc	p.L126F	A1CF_uc010qho.2_Missense_Mutation_p.L134F|A1CF_uc010qhn.2_Missense_Mutation_p.L134F|A1CF_uc009xov.3_Missense_Mutation_p.L126F|A1CF_uc001jji.3_Missense_Mutation_p.L126F|A1CF_uc001jjh.3_Missense_Mutation_p.L134F	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	126	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ACCCCTAAGAGGCGCCCATTT	0.438000														53			27		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13414699	13414699	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:13414699C>T	uc002mwy.3	-	16	2223	c.1987_splice	c.e16-1	p.I663_splice	CACNA1A_uc010dzc.2_Splice_Site_p.I189_splice|CACNA1A_uc010xnd.2_Splice_Site_p.I663_splice|CACNA1A_uc021ups.1_Splice_Site_p.I663_splice|CACNA1A_uc010xne.2_Splice_Site_p.I663_splice|CACNA1A_uc010dze.2_Splice_Site_p.I663_splice|CACNA1A_uc021upt.1_Splice_Site_p.I664_splice	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	664					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCGTCAGGATCTGAAAGGGGA	0.607000														98			20		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41711060	41711060	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41711060C>T	uc002yyq.1	-	6	1945	c.1493G>A	c.(1492-1494)cGa>cAa	p.R498Q	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	498	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TACGTTTATTCGAGCCTGGTA	0.522000														60			17		0	0	1	0	0
NDUFC2-KCTD14	100532726	broad.mit.edu	37	11	77784157	77784157	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:77784157G>A	uc021qnr.1	-	1	672	c.197C>T	c.(196-198)gCc>gTc	p.A66V	NDUFC2-KCTD14_uc021qns.1_Missense_Mutation_p.A66V|NDUFC2-KCTD14_uc021qnt.1_Intron|NDUFC2-KCTD14_uc009yuw.3_Missense_Mutation_p.A66V|NDUFC2-KCTD14_uc021qnv.1_Missense_Mutation_p.A66V|NDUFC2-KCTD14_uc021qnw.1_Intron	NM_001203260	NP_001190189	E9PQ53	E9PQ53_HUMAN	Homo sapiens NDUFC2-KCTD14 readthrough (NDUFC2-KCTD14), transcript variant 1, mRNA.	66					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial inner membrane|respiratory chain	NADH dehydrogenase (ubiquinone) activity										AAAAAAAAAGGCCGTAATATA	0.353000														101			31		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594905	179594905	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179594905G>A	uc021vsy.1	-	58	14715	c.14490C>T	c.(14488-14490)gcC>gcT	p.A4830A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.A1491A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5757	Ig-like 28.						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)			CGGTAGCTTTGGCTGCAAAGA	0.448000														41			5		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43056984	43056984	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43056984G>A	uc002xma.3	+	8	1228	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	HNF4A_uc002xlu.3_Missense_Mutation_p.S358N|HNF4A_uc002xlv.3_Missense_Mutation_p.S358N|HNF4A_uc010ggq.3_Missense_Mutation_p.S373N|HNF4A_uc002xlz.3_Missense_Mutation_p.S380N	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	380					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGGTCCCCCAGCGATGCACCC	0.597000														74			23		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899267	112899267	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:112899267C>T	uc004bei.2	+	8	2331	c.2139C>T	c.(2137-2139)atC>atT	p.I713I	PALM2-AKAP2_uc004bej.4_Silent_p.I481I|PALM2-AKAP2_uc004bek.4_Silent_p.I481I|PALM2-AKAP2_uc004bel.1_Silent_p.I291I|PALM2-AKAP2_uc011lwi.2_Silent_p.I339I|PALM2-AKAP2_uc004bem.3_Silent_p.I339I|PALM2-AKAP2_uc010mtw.1_Silent_p.I299I|PALM2-AKAP2_uc011lwj.2_Silent_p.I250I|PALM2-AKAP2_uc004ben.3_Silent_p.I250I	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	250							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AAAAAACCATCGAGGAGCAGC	0.537000														40			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237983	140237983	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140237983G>A	uc003lhx.2	+	0	2350	c.2350G>A	c.(2350-2352)Ggg>Agg	p.G784R	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.G784R	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	834					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)			AGATGTGGACGGGGAAGATCA	0.522000														1			2		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93170762	93170762	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:93170762G>A	uc001pdq.3	+	13	1792	c.1692G>A	c.(1690-1692)ctG>ctA	p.L564L		NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	564										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				ATTTCCTTCTGGAAGAAGAGA	0.378000														42			20		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51376660	51376660	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:51376660G>A	uc001wyu.3	-	16	2257	c.2130C>T	c.(2128-2130)ttC>ttT	p.F710F	PYGL_uc010tqq.2_Silent_p.F676F	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	710					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TGCCAAAGATGAACAGGTTCT	0.502000														288			119		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41327598	41327598	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:41327598G>A	uc001rmm.1	+	8	1016	c.903G>A	c.(901-903)caG>caA	p.Q301Q	CNTN1_uc009zjy.2_Silent_p.Q301Q|CNTN1_uc001rmn.1_Silent_p.Q290Q|CNTN1_uc001rmo.3_Silent_p.Q301Q	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	301	Ig-like C2-type 3.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCAATATTCAGCTAGAAGATG	0.408000														68			19		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55925701	55925701	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55925701C>T	uc003pcs.3	-	25	2572	c.2340G>A	c.(2338-2340)ttG>ttA	p.L780L	COL21A1_uc010jzz.3_Silent_p.L165L|COL21A1_uc011dxg.2_Silent_p.L153L|COL21A1_uc011dxh.2_Silent_p.L165L|COL21A1_uc003pcr.3_Silent_p.L137L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	780	Collagen-like 5.			L -> W (in Ref. 7; AAH45597).	cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCTTCCCATCCAAACCTGGGG	0.478000														31			26		0	0	1	0	0
SHC4	399694	broad.mit.edu	37	15	49160046	49160046	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:49160046G>A	uc001zxb.1	-	5	1344	c.915C>T	c.(913-915)gcC>gcT	p.A305A	SHC4_uc010uey.1_Silent_p.A62A|SHC4_uc010uez.1_Silent_p.A19A	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) family, member 4 (SHC4), mRNA.	305	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TAGCTACGTAGGCAACATAGT	0.323000														89			15		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16012579	16012579	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:16012579G>A	uc010lsu.3	-	5	1010	c.946C>T	c.(946-948)Cca>Tca	p.P316S	MSR1_uc003wwz.3_Missense_Mutation_p.P298S|MSR1_uc003wxa.3_Missense_Mutation_p.P298S|MSR1_uc003wxb.3_Missense_Mutation_p.P298S|MSR1_uc011kxz.2_Missense_Mutation_p.P72S	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	298	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATACCTATTGGACCTGGAAAT	0.398000														40			20		0	0	1	0	0
C1orf141	400757	broad.mit.edu	37	1	67560983	67560983	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:67560983C>T	uc001ddl.1	-	5	649	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	C1orf141_uc001ddm.1_Missense_Mutation_p.E180K|C1orf141_uc001ddn.1_Intron	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.	180										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTTTTCAATTCATCCTCAAAG	0.323000														38			15		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48275352	48275352	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48275352G>A	uc002iqm.3	-	7	726	c.600C>T	c.(598-600)ggC>ggT	p.G200G		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	200	Triple-helical region.		G -> V (in OI1; patient diagnosed with OI1/OI4).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GACCTTGGAAGCCTTGGGGAC	0.493000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta				OREG0024560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			15		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70863576	70863576	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:70863576G>A	uc002ezr.3	-	80	14205	c.14054C>T	c.(14053-14055)cCc>cTc	p.P4685L	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4686										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)				GATCTCATAGGGCTTGTTTTG	0.587000														13			4		0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905626	15905626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15905626C>T	uc010xos.2	+	0	768	c.768C>T	c.(766-768)gcC>gcT	p.A256A		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						ATGGCTTTGCCTCCGTCATTT	0.572000														50			18		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202702705	202702705	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:202702705G>A	uc009xag.3	-	23	3957	c.3841C>T	c.(3841-3843)Cgc>Tgc	p.R1281C	KDM5B_uc001gyf.3_Missense_Mutation_p.R1245C|KDM5B_uc001gyg.1_Missense_Mutation_p.R1087C	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1245					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.R1245C(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TCAGGAAGGCGAACTCGGATA	0.512000														90			44		0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26032146	26032146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:26032146G>A	uc003nfs.1	-	0	143	c.143C>T	c.(142-144)gCt>gTt	p.A48V		NM_003537	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3b (HIST1H3B), mRNA.	48					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CTCGCGCAGAGCCACAGTGCC	0.632000														148			35		0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94140254	94140254	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94140254G>A	uc001dpz.3	-	1	508	c.233C>T	c.(232-234)tCc>tTc	p.S78F	BCAR3_uc001dqa.3_Missense_Mutation_p.S78F|BCAR3_uc001dqb.3_Missense_Mutation_p.S78F	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	78					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CTGCCGTGGGGATTTGGAGTG	0.552000														37			10		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104081960	104081960	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:104081960C>T	uc001tjw.3	+	27	3198	c.3012C>T	c.(3010-3012)ctC>ctT	p.L1004L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1004	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTCATTTCTCTCCGAAGCAG	0.378000														103			53		0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50662634	50662634	+	Missense_Mutation	SNP	G	A	A	rs139968102		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50662634G>A	uc003bkb.1	-	12	2718	c.2206C>T	c.(2206-2208)Cgt>Tgt	p.R736C	TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Missense_Mutation_p.R736C|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hat.1_5'UTR|TUBGCP6_uc003bkd.1_Missense_Mutation_p.R90C	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	736					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)		CGGAGTTCACGGGCGTAGCTG	0.617000														51			14		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103142729	103142729	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103142729G>A	uc002tbz.4	+	10	2419	c.1962G>A	c.(1960-1962)aaG>aaA	p.K654K		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	654					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						CTGGCACCAAGAATATCCGCT	0.517000														114			41		0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130984581	130984581	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130984581C>T	uc022bob.1	+	6	1042	c.955C>T	c.(955-957)Cct>Tct	p.P319S	DNM1_uc022bnx.1_Missense_Mutation_p.P319S|DNM1_uc022bny.1_Missense_Mutation_p.P319S|DNM1_uc022bnz.1_Missense_Mutation_p.P319S|DNM1_uc022boa.1_Missense_Mutation_p.P319S	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	319					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GAACTTCCGCCCTGATGACCC	0.622000														31			21		0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628477	173628478	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:173628477_173628478GG>AA	uc001gja.1	-	1	141_142	c.80_81CC>TT	c.(79-81)gcc>gTT	p.A27V	ANKRD45_uc001gjb.4_Missense_Mutation_p.A27V	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	43										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						ctggttcttgggcttcttcttc	0.441000														22			9		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158596785	158596785	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158596785C>T	uc001fst.1	-	40	5876	c.5677G>A	c.(5677-5679)Gaa>Aaa	p.E1893K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1893					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCTGACTTTCCTCCTGCAAC	0.423000														141			44		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117788850	117788850	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117788850G>A	uc004bjj.4	-	25	6706	c.6294C>T	c.(6292-6294)cgC>cgT	p.R2098R	TNC_uc010mvf.3_Silent_p.R1825R	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	2098	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCAGCTTGTAGCGAGTCTTGG	0.562000														50			17		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70502256	70502256	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:70502256C>T	uc001dep.3	+	17	2153	c.2123C>T	c.(2122-2124)tCc>tTc	p.S708F	LRRC7_uc009wbg.3_Intron|LRRC7_uc001deq.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	708						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						AAAGTGGGGTCCTTGCAGACA	0.448000														102			43		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506871	155506871	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155506871G>A	uc003iod.1	-	4	1768	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	FGA_uc003ioe.1_Silent_p.F570F|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	570					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CACGGGAAGGGAATTCAGCTA	0.428000														89			39		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764252	92764252	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92764252C>T	uc003umh.1	-	4	2249	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	SAMD9L_uc003umj.1_Missense_Mutation_p.E345K|SAMD9L_uc003umi.1_Missense_Mutation_p.E345K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E345K|SAMD9L_uc003umk.1_Missense_Mutation_p.E345K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E345K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E345K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E345K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	345										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTAGCCCCTTCTCTTACAAAC	0.333000														119			56		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531154	50531154	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50531154C>T	uc021pqb.1	+	0	564	c.564C>T	c.(562-564)ttC>ttT	p.F188F	C10orf71_uc021pqa.1_Silent_p.F187F|C10orf71_uc021pqc.1_Silent_p.F188F	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	188										endometrium(1)	1						ACTTCTGCTTCGATTCTGCCT	0.547000														36			10		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160766091	160766091	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160766091C>T	uc001fwu.3	+	0	164	c.114C>T	c.(112-114)ttC>ttT	p.F38F	LY9_uc001fwt.3_Silent_p.F38F|LY9_uc010pjs.1_Silent_p.F38F|LY9_uc001fwv.3_Silent_p.F38F|LY9_uc001fww.3_Silent_p.F38F	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	38					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTCTCCTCTTCCTGCTCATGG	0.493000														183			37		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16205242	16205242	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:16205242C>T	uc010bvi.3	+	21	3057	c.2882C>T	c.(2881-2883)tCc>tTc	p.S961F	ABCC1_uc010bvj.3_Missense_Mutation_p.S902F|ABCC1_uc010bvk.3_Missense_Mutation_p.S905F|ABCC1_uc010bvl.3_Missense_Mutation_p.S961F|ABCC1_uc010bvm.3_Missense_Mutation_p.S846F|ABCC1_uc002del.4_Missense_Mutation_p.S855F	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	961					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.L960R(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTCAAGCTTTCCGTGTACTGG	0.557000														142			55		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113547155	113547155	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113547155C>T	uc022blv.1	+	11	1579	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.S393F|MUSK_uc022blu.1_Missense_Mutation_p.S383F	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	482					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCTTCCTCCTCCTCTTCTTCC	0.403000														67			40		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186115002	186115002	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:186115002C>T	uc001grq.1	+	92	14784	c.14555C>T	c.(14554-14556)cCc>cTc	p.P4852L	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.P421L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4852	TSP type-1 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGTGGCCGTCCCTGTCCCGGA	0.537000														63			16		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57478841	57478841	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:57478841C>T	uc002xzw.3	+	4	2641	c.2356C>T	c.(2356-2358)Cct>Tct	p.P786S	GNAS_uc021wfl.1_3'UTR|GNAS_uc002xzt.3_Missense_Mutation_p.P111S|GNAS_uc010gjq.3_Missense_Mutation_p.P84S|GNAS_uc002xzx.3_Missense_Mutation_p.P84S|GNAS_uc021wfn.1_Missense_Mutation_p.P143S|GNAS_uc021wfo.1_Missense_Mutation_p.P144S|GNAS_uc002yaa.3_Missense_Mutation_p.P128S|GNAS_uc021wfp.1_Missense_Mutation_p.P129S|GNAS_uc002yad.3_Missense_Mutation_p.P34S|GNAS_uc002yae.3_Missense_Mutation_p.P68S	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	143					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTTGACTTCCCTCCCGTAAG	0.582000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				216			53		0	0	1	0	0
FAM73B	84895	broad.mit.edu	37	9	131802909	131802909	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131802909C>T	uc004bxa.3	+	1	222	c.36C>T	c.(34-36)atC>atT	p.I12I	FAM73B_uc004bwy.3_Non-coding_Transcript|FAM73B_uc004bwz.3_Non-coding_Transcript|FAM73B_uc011mbn.1_Silent_p.I12I	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	Homo sapiens family with sequence similarity 73, member B (FAM73B), mRNA.	12						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CGTCTATGATCCAGGCCCTGG	0.592000														34			11		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201063042	201063042	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201063042C>T	uc001gvv.3	-	2	593	c.366G>A	c.(364-366)tgG>tgA	p.W122*		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	122					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCAGCACATTCCAGCCACTGC	0.547000														61			24		0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30858825	30858825	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30858825C>T	uc003nrv.3	+	3	535	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	DDR1_uc010jse.3_Missense_Mutation_p.R165C|DDR1_uc003nrq.3_Missense_Mutation_p.R165C|DDR1_uc003nrr.3_Missense_Mutation_p.R165C|DDR1_uc003nrs.3_Missense_Mutation_p.R165C|DDR1_uc003nrt.3_Missense_Mutation_p.R165C|DDR1_uc011dms.2_Missense_Mutation_p.R183C|DDR1_uc011dmt.2_Missense_Mutation_p.R191C|DDR1_uc003nru.3_Missense_Mutation_p.R165C|DDR1_uc011dmu.1_Missense_Mutation_p.R165C|DDR1_uc003nry.2_Missense_Mutation_p.R165C|DDR1_uc003nrx.2_Missense_Mutation_p.R165C|DDR1_uc003nrw.1_5'Flank	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	165	F5/8 type C.			R -> H (in Ref. 14; AAH70070).	cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCGACTGGTTCGCTTCTACCC	0.632000														59			17		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693326	94693326	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:94693326G>A	uc011cdt.2	+	15	2959	c.2701G>A	c.(2701-2703)Gat>Aat	p.D901N	GRID2_uc011cdu.2_Missense_Mutation_p.D806N	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	901					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.I900T(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTCGTCAATTGATTTGACCCC	0.458000														181			11		0	0	1	0	0
FAM114A1	92689	broad.mit.edu	37	4	38907180	38907180	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:38907180C>T	uc003gtn.3	+	4	733	c.474C>T	c.(472-474)gcC>gcT	p.A158A	FAM114A1_uc011byh.2_5'UTR	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	Homo sapiens family with sequence similarity 114, member A1 (FAM114A1), transcript variant 1, mRNA.	158						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAGCAGGAGCCACTCTACGGA	0.448000														137			45		0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5757959	5757959	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5757959C>T	uc001mbt.2	+	0	282	c.213C>T	c.(211-213)ttC>ttT	p.F71F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Silent_p.F71F|OR56B1_uc009yev.1_Silent_p.F71F	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TGTATATTTTCCTTGGCATCC	0.493000														50			16		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16276744	16276744	+	Missense_Mutation	SNP	C	T	T	rs72653780		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:16276744C>T	uc002den.4	-	15	2024	c.1987G>A	c.(1987-1989)Ggt>Agt	p.G663S	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	663	ABC transporter 1.				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)		CCCACTGGACCGACAACAGCC	0.632000														71			25		0	0	1	0	0
FAM35B2	439965	broad.mit.edu	37	10	47379972	47379972	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:47379972G>A	uc010qfz.2	+	0		c.253G>A								Homo sapiens family with sequence similarity 35, member B2 (pseudogene) (FAM35B2), non-coding RNA.																		CAAACTGTATGAATAGACATG	0.363000														21			3		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	36007457	36007457	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:36007457C>T	uc004ddj.3	+	15	2801	c.2735C>T	c.(2734-2736)tCa>tTa	p.S912L	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	912										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GCATATTCCTCACTGGAATGT	0.353000														27			18		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238296801	238296801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:238296801G>A	uc002vwl.2	-	3	1021	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F	COL6A3_uc002vwo.2_Missense_Mutation_p.L40F|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Missense_Mutation_p.L40F|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.L246F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	246	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCATCAATAAGGAAAATAATG	0.378000														73			21		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10079083	10079083	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10079083G>A	uc002mmq.1	-	58	4378	c.4292C>T	c.(4291-4293)cCc>cTc	p.P1431L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1431	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)			GGGACCAGGGGGTCCCTGCAC	0.597000														172			72		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94137937	94137937	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:94137937A>G	uc011cdt.2	+	5	1096	c.838A>G	c.(838-840)Agg>Ggg	p.R280G	GRID2_uc010ikx.3_Missense_Mutation_p.R280G|GRID2_uc011cdu.2_Missense_Mutation_p.R185G|GRID2_uc010ikz.1_5'UTR	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	280					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GTCAATTGGAAGGTTAACGAT	0.393000														169			41		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98507826	98507826	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:98507826C>T	uc003upp.3	+	14	1707	c.1498C>T	c.(1498-1500)Cca>Tca	p.P500S	TRRAP_uc011kis.2_Missense_Mutation_p.P500S|TRRAP_uc003upr.3_Missense_Mutation_p.P192S	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	500	Pro-rich.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTCCCTCCCCAGCCCCTGT	0.662000														61			23		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95085787	95085787	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:95085787G>A	uc001ydp.3	+	2	1058	c.899G>A	c.(898-900)aGa>aAa	p.R300K	SERPINA3_uc001ydo.4_Missense_Mutation_p.R325K|SERPINA3_uc001ydr.3_Intron|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.R300K|SERPINA3_uc001yds.3_Missense_Mutation_p.R300K	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	300					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AAGCGGTGGAGAGACTCTCTG	0.557000														47			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179418650	179418650	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179418650C>T	uc021vsy.1	-	281	81709	c.81484G>A	c.(81484-81486)Gat>Aat	p.D27162N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D20857N|TTN_uc021vta.1_Missense_Mutation_p.D20790N|TTN_uc021vtb.1_Missense_Mutation_p.D20665N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28089	Ig-like 129.						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)			CCAATAGGATCAGCAGCTTTG	0.393000														35			11		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20180764	20180764	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:20180764G>A	uc003sus.4	-	6	2673	c.2364C>T	c.(2362-2364)gcC>gcT	p.A788A	MACC1_uc010kug.3_Silent_p.A788A	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	788					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GAAAATCATAGGCAGGTTTCC	0.358000														79			27		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133894781	133894781	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133894781C>T	uc003ytw.3	+	6	854	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	271	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTCCACCTTCACTGAAACCA	0.458000														228			21		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6937593	6937593	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6937593G>A	uc002mfw.3	+	19	2627	c.2589G>A	c.(2587-2589)acG>acA	p.T863T	EMR1_uc010dvc.3_Silent_p.T798T|EMR1_uc010dvb.3_Silent_p.T844T|EMR1_uc010xji.2_Silent_p.T722T|EMR1_uc010xjj.2_Silent_p.T686T	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	863					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)					CTGGGAAGACGAAGCCCAGCT	0.557000														131			29		0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31524554	31524554	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31524554C>T	uc003aju.4	+	8	2199	c.2107C>T	c.(2107-2109)Ctc>Ttc	p.L703F	INPP5J_uc003ajw.3_Missense_Mutation_p.L139F|INPP5J_uc003ajt.4_Missense_Mutation_p.L335F|INPP5J_uc003ajv.4_Missense_Mutation_p.L336F|INPP5J_uc003ajs.4_Missense_Mutation_p.L336F|INPP5J_uc011alk.2_Missense_Mutation_p.L636F|INPP5J_uc010gwg.3_Missense_Mutation_p.L268F	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	703	Catalytic (Potential).					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GAGCCACCGACTCCAGGTGAC	0.607000														53			27		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71496142	71496142	+	Silent	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:71496142C>G	uc003kbw.4	+	4	7201	c.6960C>G	c.(6958-6960)acC>acG	p.T2320T	MAP1B_uc010iyw.1_Silent_p.T2337T|MAP1B_uc010iyx.1_Silent_p.T2194T|MAP1B_uc010iyy.1_Silent_p.T2194T	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	2320						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACAAGGAGACCAAGAATGCTG	0.507000														99			43		0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79854699	79854699	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:79854699G>A	uc010jam.3	-	3	1490	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	ANKRD34B_uc003kgw.3_Silent_p.T380T|ANKRD34B_uc010jan.3_Silent_p.T380T|ANKRD34B_uc021yax.1_Silent_p.T380T	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	380						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)		AAGTTGGAGGGGTAAGGCCAG	0.428000														53			24		0	0	1	0	0
PLAC9	219348	broad.mit.edu	37	10	81903997	81903997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81903997G>A	uc001kbp.1	+	2	442	c.181G>A	c.(181-183)Gat>Aat	p.D61N		NM_001012973	NP_001012991	Q5JTB6	PLAC9_HUMAN	Homo sapiens placenta-specific 9 (PLAC9), mRNA.	61						extracellular region				kidney(1)|ovary(1)	2	Prostate(51;0.0095)|all_epithelial(25;0.175)		Colorectal(32;0.109)			GAAGACCGTGGATCACCTGGG	0.612000											OREG0020321	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			23		0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6623959	6623959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6623959C>T	uc001qoo.2	+	8	906	c.860C>T	c.(859-861)cCc>cTc	p.P287L	NCAPD2_uc009zen.1_Missense_Mutation_p.P159L|NCAPD2_uc010sfd.1_Missense_Mutation_p.P242L	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	287	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAAAAGTGTCCCCAAGAGCTG	0.478000														71			23		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206305266	206305266	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:206305266C>T	uc002var.2	+	19	3121	c.2914C>T	c.(2914-2916)Cca>Tca	p.P972S	PARD3B_uc002vao.2_Intron|PARD3B_uc002vap.2_Missense_Mutation_p.P910S|PARD3B_uc002vaq.2_Missense_Mutation_p.P903S	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	972					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTTTAGATCTCCATCTCCCCC	0.483000														97			60		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73470747	73470747	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:73470747C>T	uc003tzw.3	+	19	1388	c.1297C>T	c.(1297-1299)Ccg>Tcg	p.P433S	ELN_uc003tzn.3_Missense_Mutation_p.P433S|ELN_uc003tzy.3_Missense_Mutation_p.P428S|ELN_uc003tzz.3_Intron|ELN_uc003tzo.3_Missense_Mutation_p.P419S|ELN_uc003tzp.3_Intron|ELN_uc003tzq.3_Missense_Mutation_p.P316S|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Missense_Mutation_p.P433S|ELN_uc003tzt.3_Missense_Mutation_p.P438S|ELN_uc003tzu.3_Missense_Mutation_p.P438S|ELN_uc003tzv.3_Missense_Mutation_p.P423S|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.P423S|ELN_uc011kff.2_Missense_Mutation_p.P433S	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	433	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CGGAGGTGTCCCGGGAGTTGG	0.637000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							82			44		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72301234	72301234	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72301234G>A	uc001jrd.4	+	16	2346	c.2065G>A	c.(2065-2067)Ggt>Agt	p.G689S	KIAA1274_uc001jre.4_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	689										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						CCCCGAGGTGGGTGAGGAGGA	0.632000														24			8		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94056584	94056584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94056584C>T	uc003ung.1	+	47	3715	c.3244C>T	c.(3244-3246)Cct>Tct	p.P1082S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1082					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)	CATTCGAGGCCCTCAGGGTCA	0.502000										HNSCC(75;0.22)				11			7		0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41386449	41386449	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41386449C>T	uc002opm.3	-	2	970	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	CYP2A7_uc002opo.3_Missense_Mutation_p.R143Q|CYP2A7_uc002opn.3_Missense_Mutation_p.R92Q	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	143						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTCGATGCCTCGCTTGCCCAC	0.672000														32			11		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623449	100623449	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:100623449C>T	uc002taf.3	-	5	737	c.593G>A	c.(592-594)gGa>gAa	p.G198E	AFF3_uc002tag.3_Missense_Mutation_p.G173E|AFF3_uc010fiq.1_Missense_Mutation_p.G173E|AFF3_uc010yvr.1_Missense_Mutation_p.G327E|AFF3_uc002tah.1_Missense_Mutation_p.G198E|AFF3_uc010fir.1_Missense_Mutation_p.G250E	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	173					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AACACCATCTCCAAGCAAGGT	0.547000														45			17		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1488383	1488383	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1488383G>A	uc002qwr.3	+	8	1440	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.D452N|TPO_uc002qwx.3_Missense_Mutation_p.D452N|TPO_uc002qwu.3_Missense_Mutation_p.D452N|TPO_uc010yio.2_Missense_Mutation_p.D279N|TPO_uc010yip.2_Missense_Mutation_p.D452N|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	452					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CACCCTGAGGGATTACATCCC	0.577000														24			13		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554407	28554407	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:28554407C>T	uc003nlo.3	-	0	706	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	AK056211_uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	30					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GTGTGGTCTTCTTCTTTAACC	0.502000														57			30		0	0	1	0	0
ATL1	51062	broad.mit.edu	37	14	51054558	51054558	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:51054558C>T	uc021rsw.1	+	1	285	c.44C>T	c.(43-45)tCg>tTg	p.S15L	ATL1_uc001wyd.4_Missense_Mutation_p.S15L|ATL1_uc001wyf.4_Missense_Mutation_p.S15L|ATL1_uc001wye.4_Missense_Mutation_p.S15L|ATL1_uc021rsx.1_Missense_Mutation_p.S15L	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	15					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						GGTGGATTTTCGGAAAAGACA	0.433000														61			26		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55175707	55175707	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55175707G>A	uc010ooe.1	+	23	4143	c.3819G>A	c.(3817-3819)caG>caA	p.Q1273Q	HEATR8_uc001cxq.3_Intron|HEATR8_uc010ood.1_Silent_p.Q791Q|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Silent_p.Q474Q	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1273						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						GCTGCTGGCAGAACTCCTGGC	0.617000														62			6		0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39515267	39515267	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:39515267G>A	uc002rro.3	-	19	1560	c.1469C>T	c.(1468-1470)gCc>gTc	p.A490V	MAP4K3_uc002rrp.3_Missense_Mutation_p.A469V|MAP4K3_uc010yns.2_Missense_Mutation_p.A43V	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	490					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				ATTACCTAAGGCAACAGGTTT	0.438000														138			58		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46781659	46781659	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:46781659C>T	uc002eei.4	-	0	563	c.447G>A	c.(445-447)agG>agA	p.R149R	MYLK3_uc010vge.2_Intron	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	149					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGCTGCCTCTCCTCCAGGGCA	0.667000														88			22		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43212399	43212399	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:43212399C>T	uc002lbe.3	+	4	1422	c.606C>T	c.(604-606)taC>taT	p.Y202Y	SLC14A2_uc002lbb.3_Silent_p.Y202Y|SLC14A2_uc010dnj.3_Silent_p.Y202Y	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	202						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGTTAGACTACTACTGGTGGC	0.552000														151			34		0	0	1	0	0
GOLGA6C	653641	broad.mit.edu	37	15	75557688	75557688	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:75557688G>A	uc002azs.2	+	8	723	c.682G>A	c.(682-684)Gag>Aag	p.E228K	DQ588973_uc002azt.2_5'Flank	NM_001164404	NP_001157876	A6NDK9	GOG6C_HUMAN	Homo sapiens golgin A6 family, member C (GOLGA6C), mRNA.	228										ovary(1)	1						AGTCCAGCTAGAGCGGGACGA	0.552000														458			62		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222821	140222821	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140222821G>A	uc003lhs.2	+	0	1915	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	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_uc003lhr.1_Missense_Mutation_p.E639K	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	650	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)			TGTCCTGGACGAAGCGGACTC	0.647000														41			49		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241689931	241689931	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241689931G>A	uc010fzk.3	-	27	3139	c.2892C>T	c.(2890-2892)ccC>ccT	p.P964P	KIF1A_uc002vzy.3_Silent_p.P863P|KIF1A_uc002vzz.2_Silent_p.P964P	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	863					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCAGGGGAACGGGGTACAGCA	0.657000														36			7		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48703660	48703660	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48703660C>T	uc002irk.1	+	37	7054	c.6682C>T	c.(6682-6684)Ctc>Ttc	p.L2228F	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Missense_Mutation_p.L2112F|CACNA1G_uc002irm.1_Missense_Mutation_p.L2149F|CACNA1G_uc002irn.1_Missense_Mutation_p.L2094F|CACNA1G_uc002iro.1_Missense_Mutation_p.L2101F|CACNA1G_uc002irp.1_Missense_Mutation_p.L2183F|CACNA1G_uc002irq.1_Missense_Mutation_p.L2205F|CACNA1G_uc002irr.1_Missense_Mutation_p.L2135F|CACNA1G_uc002irs.1_Missense_Mutation_p.L2172F|CACNA1G_uc002irt.1_Missense_Mutation_p.L2117F|CACNA1G_uc002iru.1_Missense_Mutation_p.L2194F|CACNA1G_uc002irv.1_Missense_Mutation_p.L2124F|CACNA1G_uc002irw.1_Missense_Mutation_p.L2157F|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002isg.1_Missense_Mutation_p.L1996F|CACNA1G_uc002ish.1_Missense_Mutation_p.L2003F|CACNA1G_uc002isi.1_Missense_Mutation_p.L1991F|CACNA1G_uc002irz.1_Missense_Mutation_p.L2041F|CACNA1G_uc002isa.1_Missense_Mutation_p.L2014F|CACNA1G_uc002isd.1_Missense_Mutation_p.L2023F|CACNA1G_uc002isb.1_Missense_Mutation_p.L2055F|CACNA1G_uc002isc.1_Missense_Mutation_p.L2130F|CACNA1G_uc002ise.1_Missense_Mutation_p.L2051F|CACNA1G_uc002isf.1_Missense_Mutation_p.L2078F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	2228					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TTCAGGAGACCTCCTGCCCCC	0.662000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			20		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141890	29141890	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29141890C>T	uc011dlm.2	+	0	580	c.478C>T	c.(478-480)Cat>Tat	p.H160Y		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H160D(2)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTCAGCACTTCATTCCTCCTT	0.463000														265			32		0	0	1	0	0
SNRPB	6628	broad.mit.edu	37	20	2442431	2442431	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:2442431G>T	uc002wfz.1	-	6	857	c.694C>A	c.(694-696)Ccc>Acc	p.P232T	SNRPB_uc002wga.1_3'UTR|SNRPB_uc010zpv.2_3'UTR|SNRPB_uc002wgb.3_3'UTR	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	232	Repeat-rich region.				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						ATTCCCGGGGGAGGGGGCCCT	0.547000														69			25		3.73148e-12	3.74719e-12	1	1	0
SERPINB3	6317	broad.mit.edu	37	18	61310721	61310721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61310721G>A	uc002ljf.3	-	1	177	c.91C>T	c.(91-93)Cct>Tct	p.P31S	SERPINB3_uc002lje.3_Missense_Mutation_p.P31S|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	31					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.P31T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATGCTGATAGGGGAATAGAAG	0.423000														184			39		0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139429023	139429023	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:139429023C>T	uc002tvi.3	-	1	264	c.264G>A	c.(262-264)acG>acA	p.T88T		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	88	II.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CCTGAATCTCCGTGATGTTGG	0.483000														41			76		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029765	13029765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:13029765G>A	uc002wod.1	+	1	579	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SPTLC3_uc002woc.3_Missense_Mutation_p.R97K	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	97					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCTGTGGAAAGAAAAGAACAA	0.428000														79			22		0	0	1	0	0
DYDC1	143241	broad.mit.edu	37	10	82098192	82098192	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:82098192G>A	uc001kby.1	-	6	700	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	DYDC1_uc001kbx.3_Intron|DYDC1_uc009xsr.1_Missense_Mutation_p.R179C			Q8WWB3	DYDC1_HUMAN	Homo sapiens DPY30 domain containing 1 (DYDC1), mRNA.	0										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			aaacaaaaacGAGTTTTTTCA	0.383000														47			15		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44673604	44673604	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44673604G>A	uc010zxl.1	+	12	1540	c.1464_splice	c.e12-1	p.K488_splice	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Splice_Site_p.K465_splice	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	488					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATCATTCCAGGTTTGGCGAA	0.562000														130			70		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103310945	103310945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103310945G>A	uc002tca.3	+	5	1640	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	500						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGCTGTCAGTGAAGAAATCTA	0.363000														67			15		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303925	151303925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151303925G>A	uc022cgz.1	-	0	168	c.168C>T	c.(166-168)tcC>tcT	p.S56S	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.S56S|MAGEA10_uc004ffm.2_Silent_p.S56S|MAGEA10_uc004ffl.3_Silent_p.S56S	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	56	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaagaggaggaggagg	0.557000														40			19		0	0	1	0	0
HERC2P4	440362	broad.mit.edu	37	16	32163819	32163819	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:32163819G>A	uc002ecx.3	-	0		c.56C>T								Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA.																		GCGGAGCTGGGAGTTGATGTA	0.527000														69			7		0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19125809	19125809	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:19125809G>A	uc002zou.3	-	6	881	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S		NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA.	282					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TTGCCATCGGGGCCCACCTTG	0.627000														28			10		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84523312	84523312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:84523312G>A	uc004eeq.3	+	7	1953	c.1067G>A	c.(1066-1068)aGa>aAa	p.R356K	ZNF711_uc004eep.3_Missense_Mutation_p.R310K|ZNF711_uc004eeo.3_Missense_Mutation_p.R310K|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	310					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GATGAAAGAAGAGTTTCCCGA	0.303000														13			5		0	0	1	0	0
OR9G9	390174	broad.mit.edu	37	11	56468244	56468244	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56468244G>A	uc010rjn.2	+	0	381	c.381G>A	c.(379-381)aaG>aaA	p.K127K	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										CCATCTCCAAGCCCCTGCTTT	0.522000														169			33		0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117509617	117509617	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:117509617C>T	uc001egv.1	+	5	1861	c.1724C>T	c.(1723-1725)tCc>tTc	p.S575F		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	575	Ig-like C2-type 5.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		AAAGTATCTTCCAAGAATATT	0.478000														56			12		0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59126874	59126874	+	Missense_Mutation	SNP	G	A	A	rs141454457		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:59126874G>A	uc009wab.2	-	18	2319	c.2296C>T	c.(2296-2298)Cgc>Tgc	p.R766C	MYSM1_uc001cza.3_Missense_Mutation_p.R172C|MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	766					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R766C(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					GAATCCCGGCGAAAGATTTTA	0.363000														50			23		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216288081	216288081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:216288081G>A	uc002vfa.3	-	8	1651	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	FN1_uc002vfc.3_Missense_Mutation_p.P462L|FN1_uc002vfe.3_Missense_Mutation_p.P462L|FN1_uc002vff.3_Missense_Mutation_p.P462L|FN1_uc002vfg.3_Missense_Mutation_p.P462L|FN1_uc002vfh.3_Missense_Mutation_p.P462L|FN1_uc002vfi.3_Missense_Mutation_p.P462L|FN1_uc002vfj.3_Missense_Mutation_p.P462L|FN1_uc002vfb.3_Missense_Mutation_p.P462L|FN1_uc002vfl.3_Missense_Mutation_p.P462L	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	462	Collagen-binding.|Fibronectin type-II 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCAGCCATGGGGCAGAACCC	0.458000														54			34		0	0	1	0	0
MPP3	4356	broad.mit.edu	37	17	41907410	41907410	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:41907410G>A	uc002ieh.3	-	3	624	c.363C>T	c.(361-363)tcC>tcT	p.S121S	MPP3_uc002iei.4_Silent_p.S96S|MPP3_uc002iej.3_Non-coding_Transcript|MPP3_uc010czi.2_Silent_p.S96S|MPP3_uc010wik.2_Silent_p.S121S|MPP3_uc010czj.2_Silent_p.S96S	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	96					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GGTGCGGGGTGGACAGCAGCT	0.637000														23			10		0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671680	31671680	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31671680G>A	uc010zue.2	+	3	692	c.677_splice	c.e3+1	p.G226_splice		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	226	Gly-rich.					cytoplasm|extracellular region	lipid binding										GGCATCACGGGGTAAGGAGGG	0.622000														33			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430142	179430142	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179430142C>T	uc021vsy.1	-	274	73238	c.73013G>A	c.(73012-73014)cGa>cAa	p.R24338Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R18033Q|TTN_uc021vta.1_Missense_Mutation_p.R17966Q|TTN_uc021vtb.1_Missense_Mutation_p.R17841Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25265	Fibronectin type-III 76.						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)			AGGTCTTGGTCGGCCTATAAC	0.383000														80			27		0	0	1	0	0
ZNF778	197320	broad.mit.edu	37	16	89293398	89293398	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89293398C>T	uc021tms.1	+	6	1041	c.702C>T	c.(700-702)ttC>ttT	p.F234F	ZNF778_uc010vpg.2_5'UTR|ZNF778_uc002fmv.3_Silent_p.F206F|ZNF778_uc002fmw.2_Silent_p.F164F	NM_001201407	NP_001188336	Q96MU6	ZN778_HUMAN	Homo sapiens zinc finger protein 778 (ZNF778), transcript variant 1, mRNA.	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GGGAAGTGTTCCTTAATCAGT	0.502000														155			44		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038215	75038215	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75038215C>T	uc001dgg.3	-	13	3398	c.3179G>A	c.(3178-3180)cGa>cAa	p.R1060Q		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1060	Glu-rich.									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						AGCTTTCCTTCGCTCTCTTGC	0.428000														191			71		0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47571021	47571021	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:47571021G>A	uc002pga.4	-	14	2542	c.2504C>T	c.(2503-2505)tCa>tTa	p.S835L	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	835							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CTCCCCAACTGAAGCCGGGGG	0.652000														13			3		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10427852	10427852	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10427852C>T	uc010coi.3	-	34	5234	c.5106G>A	c.(5104-5106)gaG>gaA	p.E1702E	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.E1702E|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1702					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1702Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTCTGCTCCTCTCTGTCTGTT	0.577000														62			43		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857197	9857197	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:9857197G>A	uc010uym.2	-	13	4514	c.4204C>T	c.(4204-4206)Cgg>Tgg	p.R1402W	GRIN2A_uc002czo.4_Missense_Mutation_p.R1402W|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1402					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1402W(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAGGACGACCGAAGATAGCTG	0.522000														65			17		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23855800	23855800	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23855800G>A	uc001wjv.3	-	32	4754	c.4683C>T	c.(4681-4683)ctC>ctT	p.L1561L		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1561					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)		GCTGGGCCCGGAGGATCTTGC	0.642000														183			77		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606135	21606135	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:21606135C>T	uc003cce.3	-	2	615	c.207G>A	c.(205-207)ggG>ggA	p.G69G	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	69						nucleus	nucleic acid binding|zinc ion binding	p.G69W(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GAAGAGGAACCCCGAATGTAT	0.343000														84			24		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32053653	32053653	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32053653G>A	uc003nzl.2	-	6	3224	c.3022C>T	c.(3022-3024)Ctg>Ttg	p.L1008L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1095	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCCCTGGCAGCACTTCCTCA	0.677000														54			27		0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49390836	49390836	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49390836G>A	uc001rsv.1	-	1	1841	c.1823C>T	c.(1822-1824)gCc>gTc	p.A608V		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	608	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		p.E607G(1)		NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CAGGGCCCCGGCGTAGGGCCC	0.736000														11			4		0	0	1	0	0
ESCO2	157570	broad.mit.edu	37	8	27660931	27660931	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:27660931C>T	uc003xgg.3	+	10	1865	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F	ESCO2_uc010luy.1_Intron	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.	594					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		CCCCTAATTTCCTCGTATATA	0.333000									SC Phocomelia syndrome					65			26		0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100502	93100502	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:93100502G>A	uc001tch.2	+	1	546	c.95G>A	c.(94-96)gGg>gAg	p.G32E	C12orf74_uc001tci.3_Missense_Mutation_p.G32E|C12orf74_uc021rbt.1_Missense_Mutation_p.G32E	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	32										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						AAGAACCAGGGGAGTCTCCTC	0.597000														41			17		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449186	104449186	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104449186C>T	uc004bbp.2	-	1	1597	c.996G>A	c.(994-996)atG>atA	p.M332I	GRIN3A_uc004bbq.1_Missense_Mutation_p.M332I	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	332					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGATACTTTCCATGTCGCAGC	0.517000														41			13		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26690364	26690364	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26690364C>T	uc003acb.3	+	2	1138	c.942C>T	c.(940-942)gtC>gtT	p.V314V	SEZ6L_uc003acd.3_Silent_p.V314V|SEZ6L_uc011akd.2_Silent_p.V314V|SEZ6L_uc003ace.3_Silent_p.V314V|SEZ6L_uc011akc.2_Silent_p.V314V|SEZ6L_uc003acc.3_Silent_p.V314V|SEZ6L_uc003acf.1_Silent_p.V87V|SEZ6L_uc010gvc.1_Silent_p.V87V	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	314	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACGTGACAGTCTACACTGGCT	0.552000														70			47		0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207195413	207195413	+	Missense_Mutation	SNP	G	A	A	rs147463881		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207195413G>A	uc001hfd.2	-	3	1955	c.1696C>T	c.(1696-1698)Cgt>Tgt	p.R566C	C1orf116_uc009xcb.1_Missense_Mutation_p.R320C|C1orf116_uc021pii.1_Missense_Mutation_p.R320C	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	566						cytoplasm|plasma membrane	receptor activity	p.R566H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AGCTTGTCACGGCTCTGTCCT	0.587000														43			16		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38424437	38424437	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:38424437G>A	uc003tgu.3	-	20	2286	c.2070C>T	c.(2068-2070)ttC>ttT	p.F690F	AMPH_uc003tgv.3_Silent_p.F648F|AMPH_uc003tgt.3_Silent_p.F575F	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	690	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AGCGTCGGGTGAAGTTCTCTG	0.458000														101			29		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20790053	20790053	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:20790053C>T	uc001reh.2	+	8	2061	c.2021C>T	c.(2020-2022)cCc>cTc	p.P674L	PDE3A_uc021qwa.1_Missense_Mutation_p.P352L	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	674					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATTCTTGCTCCCGAACCTCTT	0.333000														36			18		0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72548855	72548855	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72548855G>A	uc002auc.3	-	12	1535	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	PARP6_uc002aua.3_Missense_Mutation_p.P204L|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Missense_Mutation_p.P359L	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	359							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CACCACAGAGGGATAAGGCTC	0.468000														40			23		0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74729435	74729435	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:74729435C>T	uc002fdb.2	-	1	662	c.221G>A	c.(220-222)gGg>gAg	p.G74E	MLKL_uc002fdc.2_Missense_Mutation_p.G74E	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	74							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TTCTATCTCCCCATTAGCCTC	0.498000														104			14		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187629015	187629015	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187629015G>A	uc003izf.3	-	1	2155	c.1967C>T	c.(1966-1968)cCa>cTa	p.P656L	FAT1_uc010iso.1_Missense_Mutation_p.P656L	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	656	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATATATAATGGTGTGGCAAA	0.448000										HNSCC(5;0.00058)				74			30		0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151093031	151093031	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151093031C>T	uc022cgv.1	+	0	895	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	MAGEA4_uc004fez.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffa.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffb.3_Missense_Mutation_p.R299C|MAGEA4_uc022cgu.1_Missense_Mutation_p.R327C|MAGEA4_uc004ffc.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffd.3_Missense_Mutation_p.R299C	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	299	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGAGTTCGCATTGCCTA	0.567000														50			67		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124438117	124438117	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124438117G>A	uc003ehg.3	+	59	8888	c.8761G>A	c.(8761-8763)Gaa>Aaa	p.E2921K	KALRN_uc003ehk.3_Missense_Mutation_p.E1224K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2920	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E2921*(1)|p.E1224*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GATCTTACAGGAAGATTTTCG	0.522000														64			12		0	0	1	0	0
ODF3L2	284451	broad.mit.edu	37	19	474630	474630	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:474630G>A	uc002lor.3	-	0	354	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	ODF3L2_uc010drp.3_Silent_p.L40L	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN	Homo sapiens outer dense fiber of sperm tails 3-like 2 (ODF3L2), mRNA.	40										large_intestine(1)|lung(2)	3						CCGTTCTCCAGGGTGGCCGTC	0.672000														12			5		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25451229	25451229	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25451229G>A	uc001upr.3	+	33	4719	c.4678G>A	c.(4678-4680)Gag>Aag	p.E1560K	RNF17_uc010tde.2_Missense_Mutation_p.E1556K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E1499K|RNF17_uc010aac.3_Missense_Mutation_p.E752K|RNF17_uc010aad.3_Missense_Mutation_p.E570K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1560					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)		GGATCTAGGGGAGACAAGAAT	0.463000														90			43		0	0	1	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406380	39406380	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39406380G>A	uc002hwi.3	+	0	442	c.408G>A	c.(406-408)gaG>gaA	p.E136E		NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	Homo sapiens keratin associated protein 9-4 (KRTAP9-4), mRNA.	136	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTGCTGTGAGACCACTTGCT	0.572000														83			75		0	0	1	0	0
KIF2A	3796	broad.mit.edu	37	5	61669557	61669557	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:61669557C>T	uc003jsy.4	+	16	2001	c.1690C>T	c.(1690-1692)Cgt>Tgt	p.R564C	KIF2A_uc003jsz.4_Missense_Mutation_p.R602C|KIF2A_uc003jsx.4_Missense_Mutation_p.R544C|KIF2A_uc010iwp.3_Missense_Mutation_p.R545C|KIF2A_uc010iwq.3_Missense_Mutation_p.R367C	NM_004520	NP_004511	O00139	KIF2A_HUMAN	Homo sapiens kinesin heavy chain member 2A (KIF2A), transcript variant 1, mRNA.	564					blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TGGTGATGTTCGTCCAATAAT	0.418000														41			9		0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24896103	24896103	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:24896103G>A	uc003aaf.3	+	1	1428	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	UPB1_uc003aae.3_Intron	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	45					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GGAAGCTTTCGAAGCTGCCTC	0.522000														86			41		0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14664469	14664469	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:14664469C>T	uc001rcc.1	-	6	1182	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	341					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GAAAAGATGTCTGCCCACCTC	0.428000														148			62		0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89789189	89789189	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89789189C>T	uc002fos.4	+	1	553	c.456C>T	c.(454-456)tcC>tcT	p.S152S	C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.3_5'UTR|ZNF276_uc002foq.4_Silent_p.S77S|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_5'UTR|ZNF276_uc010cis.3_5'UTR|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_5'Flank|ZNF276_uc010cit.2_5'Flank	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	152	ZAD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTCTCAAGTCCTTCCTGCAGA	0.607000														79			40		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157985168	157985168	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:157985168C>T	uc003wno.3	-	4	521	c.400G>A	c.(400-402)Ggc>Agc	p.G134S	PTPRN2_uc003wnp.3_Missense_Mutation_p.G117S|PTPRN2_uc003wnq.3_Missense_Mutation_p.G134S|PTPRN2_uc003wnr.3_Missense_Mutation_p.G96S|PTPRN2_uc011kwa.2_Missense_Mutation_p.G157S	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	134						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V133I(2)|p.V133F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTCTCGCTGCCAACGCTGTGT	0.637000														86			18		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129913387	129913387	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:129913387C>T	uc001lke.3	-	6	1480	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	MKI67_uc001lkf.3_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	429					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)				ACTTCCACATCTGTAGGAATA	0.428000														105			40		0	0	1	0	0
FBXO3	26273	broad.mit.edu	37	11	33777415	33777415	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:33777415G>A	uc001muz.3	-	4	608	c.580C>T	c.(580-582)Ctc>Ttc	p.L194F	FBXO3_uc010rej.2_5'Flank|FBXO3_uc001muy.3_Missense_Mutation_p.L81F|FBXO3_uc009ykb.3_Non-coding_Transcript|FBXO3_uc001mva.1_Missense_Mutation_p.L194F|FBXO3_uc001mvb.1_Missense_Mutation_p.L189F|FBXO3_uc010rek.1_Intron	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	Homo sapiens F-box protein 3 (FBXO3), transcript variant 1, mRNA.	194					proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		GTTAAAGGGAGACAGTATTTC	0.448000														38			30		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71908145	71908145	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71908145G>A	uc010fen.3	+	53	6219	c.6078G>A	c.(6076-6078)atG>atA	p.M2026I	DYSF_uc010fei.3_Missense_Mutation_p.M2004I|DYSF_uc010feh.3_Missense_Mutation_p.M1994I|DYSF_uc002sig.4_Missense_Mutation_p.M1973I|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.M2018I|DYSF_uc010fee.3_Missense_Mutation_p.M2008I|DYSF_uc010fef.3_Missense_Mutation_p.M2025I|DYSF_uc002sie.3_Missense_Mutation_p.M1987I|DYSF_uc010feo.3_Missense_Mutation_p.M2019I|DYSF_uc010fej.3_Missense_Mutation_p.M1995I|DYSF_uc010fel.3_Missense_Mutation_p.M1974I|DYSF_uc010fem.3_Missense_Mutation_p.M2009I|DYSF_uc002sif.3_Missense_Mutation_p.M1988I|DYSF_uc010fek.3_Missense_Mutation_p.M2005I|DYSF_uc010yqy.2_Missense_Mutation_p.M868I|DYSF_uc010yqz.2_Missense_Mutation_p.M748I	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1987						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGCTGGAAATGACCTTGGAGA	0.572000														26			6		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317513	30317513	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:30317513C>T	uc009xle.2	-	2	1701	c.1564G>A	c.(1564-1566)Gca>Aca	p.A522T	KIAA1462_uc001iux.3_Missense_Mutation_p.A522T|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.A384T	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	522										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGTCCCCTTGCCACACAGCGG	0.642000														130			44		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3687253	3687253	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3687253C>T	uc002wja.3	-	1	150	c.150G>A	c.(148-150)gaG>gaA	p.E50E	SIGLEC1_uc002wiz.4_Silent_p.E50E|SIGLEC1_uc002wjc.3_5'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	50	Ig-like V-type.				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						CGTCGGGCACCTCCACGTCGG	0.667000														12			3		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38493843	38493843	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38493843G>A	uc010ive.1	-	13	2262	c.1930C>T	c.(1930-1932)Ctc>Ttc	p.L644F	LIFR_uc003jli.2_Missense_Mutation_p.L644F	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	644	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CAGGTGAGGAGAATCCCCTTT	0.413000			T	PLAG1	salivary adenoma									84			28		0	0	1	0	0
HIC1	3090	broad.mit.edu	37	17	1961664	1961664	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:1961664G>A	uc010cjy.3	+	1	1737	c.1737G>A	c.(1735-1737)acG>acA	p.T579T	HIC1_uc002fty.4_Silent_p.T560T|HIC1_uc002ftz.4_Silent_p.T560T|HIC1_uc021tnn.1_Silent_p.T560T	NM_001098202	NP_006488	Q14526	HIC1_HUMAN	Homo sapiens hypermethylated in cancer 1 (HIC1), transcript variant 2, mRNA.	579					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		ACCGCCTCACGGAGCACATGC	0.657000														10			8		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480622	140480622	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140480622C>T	uc003lio.3	+	0	389	c.389C>T	c.(388-390)tCt>tTt	p.S130F	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	130	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S130S(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGACCATTCTCCGGTATTC	0.413000														107			45		0	0	1	0	0
GNRHR	2798	broad.mit.edu	37	4	68610308	68610309	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:68610308_68610309CC>TT	uc003hdn.3	-	1	2470_2471	c.719_720GG>AA	c.(718-720)cgg>cAA	p.R240Q	LOC550112_uc003hdl.4_Intron|GNRHR_uc003hdm.3_Missense_Mutation_p.G198S	NM_000406	NP_000397	P30968	GNRHR_HUMAN	Homo sapiens gonadotropin-releasing hormone receptor (GNRHR), transcript variant 1, mRNA.	240					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	p.R240W(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	GATGAAGGACCCGTGTCAGGGT	0.416000														65			14		0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54872761	54872761	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54872761C>T	uc002qfk.1	-	2	436	c.126G>A	c.(124-126)ggG>ggA	p.G42G	LAIR1_uc002qfl.1_Silent_p.G42G|LAIR1_uc002qfm.1_Silent_p.G41G|LAIR1_uc002qfn.1_Silent_p.G41G|LAIR1_uc010yex.2_Silent_p.G35G|LAIR1_uc002qfo.3_Silent_p.G24G	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	42	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity	p.G42G(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCACATGGCTCCCCAGGGGGA	0.572000														150			60		0	0	1	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29957530	29957530	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:29957530G>A	uc003afx.4	-	5	799	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S	NIPSNAP1_uc011akp.2_Missense_Mutation_p.P162S	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	Homo sapiens nipsnap homolog 1 (C. elegans) (NIPSNAP1), transcript variant 1, mRNA.	182								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						TAGATGTTGGGACCCATTCTG	0.582000														78			33		0	0	1	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93390138	93390138	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:93390138C>T	uc001kho.3	-	1	632	c.500G>A	c.(499-501)cGa>cAa	p.R167Q		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3C (PPP1R3C), mRNA.	167	CBM21.|Interaction with EPM2A.						protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				TGTCACTGTTCGCTCTTGCAA	0.413000														117			41		0	0	1	0	0
PLEKHB2	55041	broad.mit.edu	37	2	132110631	132110631	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:132110631G>A	uc002tsh.2	+	6	1022	c.462G>A	c.(460-462)acG>acA	p.T154T				Q96CS7	PKHB2_HUMAN	Homo sapiens pleckstrin homology domain containing, family B (evectins) member 2 (PLEKHB2), transcript variant 2, mRNA.	0						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		ACACCACCACGAGTGCAAAAA	0.453000														41			9		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155448284	155448284	+	Silent	SNP	G	A	A	rs148724344		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155448284G>A	uc009wqq.3	-	2	4857	c.4377C>T	c.(4375-4377)ccC>ccT	p.P1459P	ASH1L_uc001fkt.3_Silent_p.P1459P|ASH1L_uc009wqr.1_Silent_p.P1459P	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1459					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	p.P1459P(2)		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)			TGGAAAGGAGGGGAGTCCTGC	0.478000														95			31		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807281	15807281	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15807281G>A	uc002nbl.3	+	11	1475	c.1356G>A	c.(1354-1356)ggG>ggA	p.G452G		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.									p.G452V(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ACAGCAAGGGGAGGTCACCTC	0.552000														170			49		0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24188277	24188277	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:24188277G>A	uc003ccz.4	-	7	941	c.421C>T	c.(421-423)Cca>Tca	p.P141S	THRB_uc010hfe.3_Missense_Mutation_p.P141S|THRB_uc003ccy.4_Missense_Mutation_p.P141S|THRB_uc003ccx.4_Missense_Mutation_p.P141S	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	141					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	GAATAGGATGGATGGAGATTT	0.358000														91			23		0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15323268	15323268	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:15323268C>T	uc002ktd.1	-	2		c.191G>A								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		TTAAACTTATCAACTGCAATT	0.299000														23			4		0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188592225	188592225	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:188592225C>T	uc003frs.2	+	10	2043	c.1797C>T	c.(1795-1797)gcC>gcT	p.A599A	LPP_uc011bsg.2_Silent_p.A452A|LPP_uc011bsi.2_Silent_p.A599A|LPP_uc011bsj.2_Silent_p.A436A	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	599	LIM zinc-binding 3.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	p.S598F(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GCAACTCTGCCCGCATCAGGG	0.512000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""									73			30		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91739130	91739130	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:91739130C>T	uc010aty.3	-	29	6080	c.5926G>A	c.(5926-5928)Ggg>Agg	p.G1976R	CCDC88C_uc001xzj.3_Missense_Mutation_p.G500R|CCDC88C_uc001xzi.3_Missense_Mutation_p.G426R	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1976					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCCGGAAGCCCCTCACTGCAG	0.711000														25			5		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394269	233394269	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233394269C>T	uc001hvl.2	-	4	1574	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	PCNXL2_uc009xfu.3_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.	447						integral to membrane		p.P446P(2)		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)				CCATTGCCTTCGGGACAGGGA	0.567000														93			55		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24581180	24581181	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:24581180_24581181CC>TT	uc011djo.2	-	6	1752_1753	c.1252_1253GG>AA	c.(1252-1254)gga>AAa	p.G418K	KIAA0319_uc011djp.2_Missense_Mutation_p.G373K|KIAA0319_uc003neh.1_Missense_Mutation_p.G418K|KIAA0319_uc011djq.1_Missense_Mutation_p.G409K|KIAA0319_uc011djr.1_Missense_Mutation_p.G418K|KIAA0319_uc010jpt.1_5'UTR	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	418	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ATTGACAAATCCTTCTCCAAAG	0.391000											OREG0017229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		139			40		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117691541	117691541	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117691541G>A	uc001twn.2	-	17	3363	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F	NOS1_uc021ren.1_Silent_p.F514F|NOS1_uc021reo.1_Silent_p.F514F|NOS1_uc001twm.2_Silent_p.F850F	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	850	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGACGCTGTTGAATCGGACCT	0.542000														69			10		0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151911	158151911	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158151911G>A	uc001frr.3	+	3	917	c.418G>A	c.(418-420)Gat>Aat	p.D140N	CD1D_uc009wsr.1_Missense_Mutation_p.D140N|CD1D_uc009wss.3_Missense_Mutation_p.D140N|CD1D_uc009wst.1_Missense_Mutation_p.D36N	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	140					T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCAAGGAAAAGATATCCTGAG	0.522000														278			15		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202272434	202272434	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:202272434G>A	uc001gxu.3	+	9	957	c.957G>A	c.(955-957)caG>caA	p.Q319Q	LGR6_uc001gxv.3_Silent_p.Q267Q|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.Q180Q|LGR6_uc009xac.1_Non-coding_Transcript	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	319						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGGACATCCAGGAGTTTCCAG	0.502000														73			6		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57596994	57596994	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57596994C>T	uc001snd.3	+	68	11208	c.10742C>T	c.(10741-10743)tCc>tTc	p.S3581F		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3581	LDL-receptor class A 27.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGTGAGTTCTCCTGTGCCAAC	0.667000														11			7		0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51563821	51563821	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51563821G>A	uc002pvn.3	-	1	151	c.108C>T	c.(106-108)ctC>ctT	p.L36L	KLK13_uc002pvl.3_Non-coding_Transcript|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Non-coding_Transcript|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Silent_p.L36L|KLK13_uc002pvq.3_Non-coding_Transcript|KLK13_uc010eoo.3_Intron|KLK13_uc002pvr.3_Silent_p.L36L	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA.	36	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		AGCCACCTGGGAGAAACCCAC	0.572000														89			53		0	0	1	0	0
SSX8	280659	broad.mit.edu	37	X	52654557	52654557	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:52654557C>T	uc011moa.1	+	2		c.359C>T			SSX8_uc011mob.1_Non-coding_Transcript					Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		TTTAGGCCTTCAATGATATTG	0.423000														26			6		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88420335	88420335	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:88420335C>T	uc001tam.1	-	2	231	c.63G>A	c.(61-63)gtG>gtA	p.V21V	C12orf50_uc001tan.3_Silent_p.V75V	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	21										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AGCTGATCTTCACACAACCAA	0.368000														78			7		0	0	1	0	0
UBQLN4	56893	broad.mit.edu	37	1	156018388	156018388	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156018388G>A	uc001fna.3	-	4	828	c.804C>T	c.(802-804)gcC>gcT	p.A268A	UBQLN4_uc010pgx.2_Silent_p.A248A	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	Homo sapiens ubiquilin 4 (UBQLN4), mRNA.	268						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGTTGCTCAGGGCCCGGTCCT	0.582000														52			28		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886862	3886862	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:3886862G>A	uc003bpt.4	+	1	1298	c.537G>A	c.(535-537)ttG>ttA	p.L179L	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.L179L	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	179						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCAACAAATTGAAAGTTATTG	0.383000														167			56		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348028	140348028	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140348028G>A	uc003lii.3	+	0	2282	c.1677G>A	c.(1675-1677)ctG>ctA	p.L559L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.L559L	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	559	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCACCACTGAGCAGCACTG	0.527000														75			26		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28650782	28650782	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28650782C>T	uc002kwl.4	-	13	2614	c.2160G>A	c.(2158-2160)ggG>ggA	p.G720G	DSC2_uc002kwk.4_Silent_p.G720G	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	720					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GTTTAGACGTCCCAGAAGCCC	0.388000														86			19		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53041993	53041993	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53041993C>T	uc001sat.3	-	4	1119	c.1086G>A	c.(1084-1086)agG>agA	p.R362R		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	362	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTTCCTTGCTCCTCTGGGCGA	0.582000														113			53		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66928483	66928483	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:66928483C>T	uc002jhq.3	-	6	1083	c.743G>A	c.(742-744)aGg>aAg	p.R248K	ABCA8_uc002jhp.3_Missense_Mutation_p.R248K|ABCA8_uc010wqq.2_Missense_Mutation_p.R248K|ABCA8_uc010wqr.2_Missense_Mutation_p.R187K|ABCA8_uc002jhr.3_Missense_Mutation_p.R248K|ABCA8_uc002jhs.3_Missense_Mutation_p.R248K|ABCA8_uc002jht.3_Missense_Mutation_p.R248K	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	248						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CATCCTTTTCCTCTCTCTTGT	0.388000														41			23		0	0	1	0	0
GFI1	2672	broad.mit.edu	37	1	92946183	92946183	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:92946183G>A	uc001dou.4	-	3	925	c.761C>T	c.(760-762)tCc>tTc	p.S254F	GFI1_uc001dov.4_Missense_Mutation_p.S254F|GFI1_uc001dow.4_Missense_Mutation_p.S254F	NM_001127215	NP_005254	Q99684	GFI1_HUMAN	Homo sapiens growth factor independent 1 transcription repressor (GFI1), transcript variant 2, mRNA.	254					negative regulation of NF-kappaB transcription factor activity|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		GCACTTGTAGGAGCCGCCGCC	0.716000														7			6		0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98209620	98209620	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:98209620G>A	uc004avk.4	-	22	4106	c.3918C>T	c.(3916-3918)ccC>ccT	p.P1306P	PTCH1_uc010mrn.3_Silent_p.P98P|PTCH1_uc010mro.3_Silent_p.P1155P|PTCH1_uc010mrp.3_Silent_p.P1155P|PTCH1_uc010mrq.3_Silent_p.P1155P|PTCH1_uc004avl.4_Silent_p.P1155P|PTCH1_uc004avm.4_Silent_p.P1305P|PTCH1_uc010mrr.3_Silent_p.P1240P	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1306					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.P1306S(1)|p.D1305Y(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTTCTCTGGGGGGGTCCCTGC	0.647000														63			28		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22749721	22749721	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22749721G>A	uc021wml.1	+	56		c.6405G>A								Parts of antibodies, mostly variable regions.																		ACCCCTGCCCGGTTCTCAGGC	0.547000														40			31		0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66479639	66479639	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:66479639G>A	uc003juy.2	-	2	1180	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	344					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TAAGGGAGGGGAAATTGGCAG	0.433000														142			56		0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203197680	203197680	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:203197680G>A	uc001gzn.2	-	1	132	c.36C>T	c.(34-36)gtC>gtT	p.V12V	CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Silent_p.V22V	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	12					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCATCAGCAGGACCATGAAAC	0.562000														11			4		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17361191	17361191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17361191C>T	uc002nfs.1	-	12	2068	c.1955G>A	c.(1954-1956)cGg>cAg	p.R652Q	USHBP1_uc002nfr.1_Missense_Mutation_p.R278Q|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.R588Q	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	652							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TTCCTGCTTCCGGTGGGCTCC	0.667000														46			23		0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71602047	71602047	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71602047C>T	uc002fap.2	-	11	1464	c.1365G>A	c.(1363-1365)taG>taA	p.*455*		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	0					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	GGATGCAGGCCTATTTATCAC	0.597000														59			17		0	0	1	0	0
KANK3	256949	broad.mit.edu	37	19	8397899	8397899	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8397899C>T	uc010dwa.3	-	7	2002	c.1936_splice	c.e7+1	p.G646_splice	KANK3_uc002mjp.1_Missense_Mutation_p.G191R	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	646										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GGCTCTGACCCGTATCCAGGA	0.632000														14			4		0	0	1	0	0
KLRK1	22914	broad.mit.edu	37	12	10531183	10531183	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10531183G>A	uc009zhj.3	-	5	576	c.399C>T	c.(397-399)agC>agT	p.S133S	AK096314_uc001qya.1_Intron|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Silent_p.S133S|KLRK1_uc009zhk.3_Silent_p.S133S|KLRK1_uc001qyd.3_Silent_p.S133S	NM_007360	NP_001186734	P26718	NKG2D_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.	133	C-type lectin.				T cell costimulation|natural killer cell activation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						CTTTCAGAAGGCTGGCATTTT	0.353000														61			39		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584297	88584297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:88584297C>T	uc003hqv.3	+	5	1471	c.1367C>T	c.(1366-1368)tCt>tTt	p.S456F	DMP1_uc003hqw.3_Missense_Mutation_p.S440F	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	456					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GACAGTGACTCTCAAGACAGC	0.522000														59			16		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123193527	123193527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:123193527C>T	uc003ieh.3	+	45	8458	c.8413C>T	c.(8413-8415)Cat>Tat	p.H2805Y	KIAA1109_uc003iel.1_Missense_Mutation_p.H740Y|KIAA1109_uc003iek.2_Missense_Mutation_p.H1424Y	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2805					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GAAGAGGATCCATGGCAGTTT	0.363000														56			18		0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107978025	107978025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:107978025G>A	uc004eoc.2	-	0	1583	c.1550C>T	c.(1549-1551)tCg>tTg	p.S517L		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	517						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTTTCCTCCCGAGCTATGGCT	0.597000														61			40		0	0	1	0	0
AAK1	22848	broad.mit.edu	37	2	69736497	69736497	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:69736497G>A	uc002sfp.2	-	13	2377	c.1872C>T	c.(1870-1872)tcC>tcT	p.S624S	AAK1_uc010fdk.2_Silent_p.S624S|AAK1_uc010yqm.1_Silent_p.S625S	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	Homo sapiens AP2 associated kinase 1 (AAK1), mRNA.	624						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GGGTTTTGGGGGATGAGGGTG	0.567000														61			6		0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28547306	28547306	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:28547306C>T	uc003szq.3	+	3	632	c.242C>T	c.(241-243)tCc>tTc	p.S81F	CREB5_uc003szo.3_Missense_Mutation_p.S48F|CREB5_uc003szr.3_Missense_Mutation_p.S74F	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	81					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CTGGACTGCTCCCTGGAGCAC	0.552000														151			58		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72937552	72937552	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72937552G>A	uc010wrr.2	+	1	138	c.138G>A	c.(136-138)aaG>aaA	p.K46K	OTOP3_uc010wrq.2_Silent_p.K28K	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	46						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CCCCGGAGAAGGAGAACCGAG	0.642000														15			6		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33521168	33521168	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:33521168G>A	uc002hjd.2	-	0	245	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	53	DUF6 1.					integral to membrane		p.F53F(1)									GGGGGCCCACGAAGCCAGCAG	0.667000														38			30		0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50736487	50736487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50736487G>A	uc001jhs.4	-	3	782	c.628C>T	c.(628-630)Cac>Tac	p.H210Y	ERCC6_uc009xoe.3_Missense_Mutation_p.H210Y|ERCC6_uc001jhu.3_Missense_Mutation_p.H210Y	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	210					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGACTGGCGTGATCTAGTTCA	0.458000								Direct reversal of damage;Nucleotide excision repair (NER)						71			24		0	0	1	0	0
FOXL1	2300	broad.mit.edu	37	16	86612425	86612425	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:86612425C>T	uc002fjr.3	+	0	311	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	Homo sapiens forkhead box L1 (FOXL1), mRNA.	32					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of Wnt receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA 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			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CTCTGGCCTTCGCCCCCGCGG	0.692000														58			13		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3656589	3656589	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3656589C>T	uc002fwo.4	-	13	1762	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	555					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCCACCTGCTCGCTGAGACGG	0.572000														12			6		0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96421285	96421285	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:96421285G>A	uc001ten.1	-	2	416	c.348C>T	c.(346-348)ctC>ctT	p.L116L	LTA4H_uc010suy.1_Silent_p.L78L|LTA4H_uc010suz.1_Silent_p.L78L|LTA4H_uc010sva.1_Intron	NM_000895	NP_000886	P09960	LKHA4_HUMAN	Homo sapiens leukotriene A4 hydrolase (LTA4H), mRNA.	116					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	p.A115A(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TGAGCCACTGGAGAGCAGAAG	0.368000														78			14		0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68156997	68156997	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:68156997C>T	uc002evo.2	+	1	1527	c.1211C>T	c.(1210-1212)cCa>cTa	p.P404L	NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Missense_Mutation_p.P404L|NFATC3_uc002evm.2_Missense_Mutation_p.P404L|NFATC3_uc002evn.2_Missense_Mutation_p.P404L|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	404					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TGGAGCAAACCAAAGCCTGGC	0.413000														124			28		0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376633	8376633	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8376633C>T	uc001qui.2	-	4	861	c.302G>A	c.(301-303)gGa>gAa	p.G101E	FAM90A1_uc001quh.2_Missense_Mutation_p.G101E	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	101							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TTCCTTCTCTCCCTTATCCTT	0.537000														143			58		0	0	1	0	0
EBI3	10148	broad.mit.edu	37	19	4234802	4234802	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4234802G>A	uc002lzu.3	+	3	526	c.518G>A	c.(517-519)gGa>gAa	p.G173E		NM_005755	NP_005746	Q14213	IL27B_HUMAN	Homo sapiens Epstein-Barr virus induced 3 (EBI3), mRNA.	173	Fibronectin type-III 2.				T-helper 1 type immune response|humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGCGTCAGGGAGCTGCGCGC	0.612000														134			52		0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180365995	180365995	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:180365995C>T	uc010hxe.3	-	9	1435	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	440					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTCAAAATCCAGTTTTTGTA	0.343000														46			13		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103126831	103126831	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:103126831G>A	uc022ajr.1	-	60	9956	c.9796C>T	c.(9796-9798)Ccc>Tcc	p.P3266S	RELN_uc022ajq.1_Missense_Mutation_p.P3266S|RELN_uc010liz.3_Missense_Mutation_p.P3266S|RN7SK_uc022ajs.1_5'Flank	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3266					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	p.L3265F(1)		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)		ATATAACTGGGAAGGTCGTGA	0.463000														53			23		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600728	29600728	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29600728C>T	uc001usl.4	+	0	1981	c.1923C>T	c.(1921-1923)ccC>ccT	p.P641P		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	631	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAACTAAGCCCATCATTATGC	0.542000														37			4		0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25043497	25043497	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:25043497C>T	uc001wpq.3	-	3	585	c.548G>A	c.(547-549)aGg>aAg	p.R183K		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	183	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.R182R(1)|p.R182Q(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		ACAAATCTGCCTTCGGGGGTC	0.622000														31			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064856	9064856	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9064856C>T	uc002mkp.3	-	2	22794	c.22590G>A	c.(22588-22590)agG>agA	p.R7530R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7532	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7529T(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						ACTGAATTTTCCTAGTGTTAG	0.473000														70			26		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155790444	155790444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155790444G>A	uc001flz.2	-	5	1064	c.967C>T	c.(967-969)Cct>Tct	p.P323S	GON4L_uc001fly.1_Missense_Mutation_p.P323S|GON4L_uc009wrh.1_Missense_Mutation_p.P323S|GON4L_uc001fma.1_Missense_Mutation_p.P323S|GON4L_uc001fmc.3_Missense_Mutation_p.P323S|GON4L_uc001fmd.4_Missense_Mutation_p.P323S|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Missense_Mutation_p.P151S|GON4L_uc001fmf.3_Missense_Mutation_p.P17S	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	323					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTCATTTTAGGCTCCTAAGGA	0.393000														57			21		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1891351	1891351	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1891351G>A	uc002qxe.3	-	16	3378	c.2551C>T	c.(2551-2553)Cta>Tta	p.L851L	MYT1L_uc002qxd.3_Silent_p.L849L|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	851					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTTTCTTCTAGAGCCTCCTGG	0.527000														140			27		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66937441	66937441	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:66937441C>T	uc004dwu.2	+	4	3410	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F	AR_uc022byk.1_Intron|AR_uc004dwv.2_Silent_p.F233F	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	764	Interaction with MYST2.|Ligand-binding.		A -> T (in AIS; loss of androgen binding).|A -> V (in AIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TGCTCTACTTCGCCCCTGATC	0.542000									Androgen Insensitivity Syndrome					19			24		0	0	1	0	0
LANCL2	55915	broad.mit.edu	37	7	55467766	55467766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55467766C>T	uc003tqp.3	+	3	1225	c.647C>T	c.(646-648)cCa>cTa	p.P216L		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.	216					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|GTP binding|catalytic activity|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GAGATAGGTCCAGGCACCGTG	0.463000														116			39		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6520073	6520073	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6520073G>A	uc001amy.3	+	12	2600	c.2432G>A	c.(2431-2433)cGa>cAa	p.R811Q	ESPN_uc001amz.3_Missense_Mutation_p.R245Q	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	811	Glu-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GAGGAGGAGCGACAGAAGCAG	0.662000														29			8		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48609816	48609816	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48609816C>T	uc003ctz.2	-	88	6976	c.6975G>A	c.(6973-6975)gaG>gaA	p.E2325E		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2325	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACTTACCGGCTCACCCACCA	0.597000														84			36		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150416156	150416156	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150416156G>A	uc003whq.3	+	1	161	c.21G>A	c.(19-21)gcG>gcA	p.A7A	GIMAP1-GIMAP5_uc022apw.1_Silent_p.A7A	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GGAAGATGGCGACAGATGAAG	0.413000														94			43		0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84777114	84777114	+	Missense_Mutation	SNP	G	A	A	rs148362906	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:84777114G>A	uc010fgb.3	+	8	1555	c.1418G>A	c.(1417-1419)cGa>cAa	p.R473Q	DNAH6_uc002soo.3_Missense_Mutation_p.R52Q|DNAH6_uc002sop.3_Missense_Mutation_p.R52Q	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	473	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AAGCTAAAACGAACACCTTCA	0.348000														40			15		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79060533	79060533	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:79060533G>A	uc002bej.4	-	16	2798	c.2587C>T	c.(2587-2589)Ccc>Tcc	p.P863S	ADAMTS7_uc010und.1_Missense_Mutation_p.P439S	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	863	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGGCCCAGGGGGTCACAGTGC	0.697000														11			10		0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94847297	94847297	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94847297G>A	uc001ycy.4	-	4	1382	c.828C>T	c.(826-828)ttC>ttT	p.F276F	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Silent_p.F276F|SERPINA1_uc010auy.3_Silent_p.F276F|SERPINA1_uc001ycz.4_Silent_p.F276F|SERPINA1_uc010auz.3_Silent_p.F276F|SERPINA1_uc010ava.3_Silent_p.F276F|SERPINA1_uc001ydb.4_Silent_p.F276F|SERPINA1_uc010avb.3_Silent_p.F276F|SERPINA1_uc001ydc.4_Silent_p.F276F|SERPINA1_uc010auw.3_Silent_p.F276F|SERPINA1_uc010aux.3_Silent_p.F276F|SERPINA1_uc001yda.1_Silent_p.F276F	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	276					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	CAGGCAGGAAGAAGATGGCGG	0.483000														69			38		0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30268851	30268851	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:30268851G>A	uc022buh.1	+	0	241	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	MAGEB1_uc004dcc.3_Missense_Mutation_p.E81K|MAGEB1_uc004dcd.3_Missense_Mutation_p.E81K|MAGEB1_uc004dce.3_Missense_Mutation_p.E81K	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	81										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CGAATCTGACGAAGGTGCCAA	0.557000														5			3		0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10870427	10870427	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10870427C>T	uc002mpt.2	+	1	365	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Missense_Mutation_p.R59C|DNM2_uc010dxl.2_Missense_Mutation_p.R59C|DNM2_uc002mpu.2_Missense_Mutation_p.R59C|DNM2_uc002mpv.2_Missense_Mutation_p.R59C	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	59					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTTCCTTCCCCGCGGTTCAGG	0.567000			"""F, N, Splice, Mis, O"""		ETP ALL									236			47		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77666836	77666836	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:77666836T>G	uc011bgk.2	+	22	4121	c.3478T>G	c.(3478-3480)Tcc>Gcc	p.S1160A	ROBO2_uc021xat.1_Missense_Mutation_p.S1172A|ROBO2_uc003dpy.4_Missense_Mutation_p.S1156A|ROBO2_uc003dpz.3_Missense_Mutation_p.S1160A|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.S283A	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1156					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCTTACTCCATCCCCACGGGA	0.488000														90			13		0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201355640	201355640	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201355640C>T	uc001gwm.3	-	2	1084	c.849G>A	c.(847-849)agG>agA	p.R283R	LAD1_uc009wzu.1_Silent_p.R305R	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	283						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						AGGCTGTGGCCCTCTTTGGGG	0.632000														110			31		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769835	37769836	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37769835_37769836GG>AA	uc003asq.4	-	2	2525_2526	c.1739_1740CC>TT	c.(1738-1740)tcc>tTT	p.S580F	ELFN2_uc021wph.1_Missense_Mutation_p.S580F	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	580						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CTGCAGGGAGGGACTGGCACTC	0.653000														24			11		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90139424	90139424	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:90139424C>T	uc010yts.2	+	30		c.3482C>T								Parts of antibodies, mostly variable regions.																		CAGAGAAAGCCCCTAAGTCCC	0.522000														231			43		0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154303543	154303543	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154303543C>T	uc001fex.3	+	4	323	c.323C>T	c.(322-324)tCc>tTc	p.S108F	ATP8B2_uc001few.3_Missense_Mutation_p.S75F|ATP8B2_uc001fey.1_Missense_Mutation_p.S94F	NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	94					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S107F(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGATCTCTTCCCTGTCCTGG	0.458000														75			17		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39447062	39447062	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:39447062G>A	uc001uwv.3	+	16	8476	c.8167G>A	c.(8167-8169)Gaa>Aaa	p.E2723K		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2723					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCAGAGGCTGAACTTCAAGG	0.403000														57			18		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799018	5799018	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5799018G>A	uc010qzn.2	-	0	880	c.847C>T	c.(847-849)Cac>Tac	p.H283Y	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACAATGATGTGAAGAGAAGGG	0.423000														14			24		0	0	1	0	0
WIPF3	644150	broad.mit.edu	37	7	29924036	29924037	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:29924036_29924037CC>TT	uc022aaz.1	+	4	1108_1109	c.926_927CC>TT	c.(925-927)ccc>cTT	p.P309L	WIPF3_uc003taj.2_Missense_Mutation_p.P309L	NM_001080529	NP_001073998	B8ZZV2	B8ZZV2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 3 (WIPF3), mRNA.	309								p.P309H(2)		breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						GCTTCTTTGCCCGCGCCCCCTT	0.683000														7			5		0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109489954	109489954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:109489954C>T	uc002ten.1	+	13	1801	c.1741C>T	c.(1741-1743)Cgt>Tgt	p.R581C	CCDC138_uc002teo.1_Intron|CCDC138_uc002tep.1_Missense_Mutation_p.R265C|CCDC138_uc010fjm.1_Intron	NM_144978	NP_659415	Q96M89	CC138_HUMAN	Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.	581										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TTTATTTTTTCGTACTTGCTC	0.368000														87			42		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256720	52256720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52256720C>T	uc003ddb.3	-	4	2113	c.1903G>A	c.(1903-1905)Gag>Aag	p.E635K	TLR9_uc003dda.2_Missense_Mutation_p.E538K	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	538					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AATGAGTGCTCGTGGTAGAGG	0.602000														42			12		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101493479	101493479	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	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)				28			49		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424093	125424093	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125424093C>T	uc022bmz.1	+	0	99	c.99C>T	c.(97-99)ccC>ccT	p.P33P		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TGTTCCTCCCCATCTACCTTA	0.493000														74			9		0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160277257	160277257	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:160277257C>T	uc003iqg.4	+	22	4731	c.4421C>T	c.(4420-4422)tCt>tTt	p.S1474F		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	1474					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CCGAACGAGTCTGACCCGCGC	0.537000														33			15		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190805	209190805	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:209190805C>T	uc002vcz.3	+	19	3428	c.3270C>T	c.(3268-3270)ctC>ctT	p.L1090L	PIKFYVE_uc010fun.1_Silent_p.L771L|PIKFYVE_uc002vcy.1_Silent_p.L1034L	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	1090					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGTCTCCTCTCCTCAATAAAG	0.448000														84			27		0	0	1	0	0
PMP2	5375	broad.mit.edu	37	8	82357106	82357107	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:82357106_82357107GG>AA	uc003ycb.1	-	1	289_290	c.191_192CC>TT	c.(190-192)tcc>tTT	p.S64F	PMP2_uc010lzv.1_Intron	NM_002677	NP_002668	P02689	MYP2_HUMAN	Homo sapiens peripheral myelin protein 2 (PMP2), mRNA.	64						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			CTAGCTTGAAGGAGATTTCTGT	0.391000														78			9		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328824	57328824	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57328824C>T	uc002qnu.2	-	6	1337	c.986G>A	c.(985-987)gGa>gAa	p.G329E	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G300E|PEG3_uc002qnv.2_Missense_Mutation_p.G329E|PEG3_uc002qnw.2_Missense_Mutation_p.G205E|PEG3_uc002qnx.2_Missense_Mutation_p.G203E|PEG3_uc010etr.2_Missense_Mutation_p.G329E	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	329					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G329R(1)|p.S328*(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTTGCTCTTCCCGATTTGGA	0.468000														68			15		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178553105	178553105	+	Missense_Mutation	SNP	G	A	A	rs145330384		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178553105G>A	uc003mjw.3	-	17	2746	c.2644C>T	c.(2644-2646)Cgc>Tgc	p.R882C		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	882	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGCCTCCGGCGGCAGCCATAC	0.657000														89			39		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22205510	22205510	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22205510G>A	uc009vqd.3	-	17	2491	c.2451C>T	c.(2449-2451)tgC>tgT	p.C817C	HSPG2_uc001bfj.3_Silent_p.C816C	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	816	Laminin EGF-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGATGTATGGGCAAGGGCAGG	0.647000														27			19		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109629448	109629448	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:109629448C>T	uc001tob.3	+	13	2294	c.2175C>T	c.(2173-2175)tcC>tcT	p.S725S	ACACB_uc001toc.3_Silent_p.S725S	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	725	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGGAACTGTCCATCCGAGGCG	0.488000														82			16		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100680818	100680818	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100680818G>A	uc003uxp.1	+	2	6174	c.6121G>A	c.(6121-6123)Gaa>Aaa	p.E2041K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2041	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.E2041K(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTAGTGAACGGACCAC	0.498000														223			76		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10077378	10077378	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10077378G>A	uc002mmq.1	-	62	4589	c.4503C>T	c.(4501-4503)ttC>ttT	p.F1501F		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1501					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)			GGACTGGGACGAAGCGCCGGC	0.706000														1			2		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165946689	165946689	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:165946689C>T	uc002ucx.3	-	27	6466	c.5974G>A	c.(5974-5976)Gga>Aga	p.G1992R	SCN3A_uc010zcy.2_Missense_Mutation_p.G475R|SCN3A_uc002ucy.3_Missense_Mutation_p.G1943R|SCN3A_uc002ucz.3_Missense_Mutation_p.G1943R	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1992						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ACCTCTTTTCCTTTGCTTTCT	0.358000														15			6		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108175647	108175647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108175647G>A	uc003dxa.1	-	19	2221	c.2164C>T	c.(2164-2166)Cca>Tca	p.P722S		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	722	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						AGTCGGTTTGGAAAACCTTCA	0.438000														178			13		0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14306614	14306614	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:14306614G>A	uc021war.1	-	0	1539	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Silent_p.L513L|FLRT3_uc002wow.2_Silent_p.L513L	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	513					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GCTCTCGATTGAGGGTGGTTG	0.468000														120			23		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20959375	20959375	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:20959375G>A	uc009yid.3	+	10	1278	c.1125G>A	c.(1123-1125)cgG>cgA	p.R375R	NELL1_uc010rdp.2_Silent_p.R107R|NELL1_uc001mqe.3_Silent_p.R347R|NELL1_uc001mqf.3_Silent_p.R347R|NELL1_uc010rdo.2_Silent_p.R290R	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	347	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AAGGCCAGCGGATTTTAACCA	0.408000														78			29		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138566163	138566163	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:138566163G>A	uc011kql.2	-	10	4249	c.4200C>T	c.(4198-4200)atC>atT	p.I1400I	KIAA1549_uc011kqi.2_Silent_p.I184I|KIAA1549_uc011kqk.2_Silent_p.I184I|KIAA1549_uc011kqj.2_Silent_p.I1400I	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1400						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCTTGGAAGGGATCTTTGACT	0.473000			O	BRAF	pilocytic astrocytoma									71			32		0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53345105	53345105	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53345105G>A	uc002qaf.3	-	3	593	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	ZNF468_uc002qae.3_Silent_p.L95L|ZNF468_uc021uzb.1_Silent_p.L95L	NM_001008801	NP_954583	Q5VIY5	ZN468_HUMAN	Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA.	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		GGTTCAGGCAGATGCAAATGA	0.403000														309			30		0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92647601	92647601	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:92647601C>T	uc002bqx.2	+	3	1039	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F	SLCO3A1_uc002bqy.2_Missense_Mutation_p.L280F|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.L222F	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	280					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CTTCTCTTCCCTCTTGATGTT	0.577000														225			12		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179342	55179342	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55179342C>T	uc002qgp.3	+	11	1581	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	LILRB4_uc002qgq.3_Missense_Mutation_p.P406S|LILRB4_uc010ert.3_Missense_Mutation_p.P448S|LILRB4_uc010eru.3_Missense_Mutation_p.P437S	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.	407						integral to membrane|plasma membrane	antigen binding|receptor activity	p.P407S(2)		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)		ATCTGAAGCCCCCCAGGATGT	0.647000														102			27		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149884829	149884829	+	Silent	SNP	G	A	A	rs144646284	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:149884829G>A	uc001etg.3	-	1	1055	c.564C>T	c.(562-564)ttC>ttT	p.F188F	SV2A_uc001eth.2_Silent_p.F188F	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	188					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGGGCAGCACGAAGCCCACCA	0.582000														100			29		0	0	1	0	0
MAOA	4128	broad.mit.edu	37	X	43571967	43571967	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:43571967C>T	uc004dfy.3	+	4	608	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	MAOA_uc011mkw.2_Missense_Mutation_p.P10S	NM_000240	NP_000231	P21397	AOFA_HUMAN	Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA.	143					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	AACTGATGCACCCTGGGAGGC	0.453000														13			17		0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50252883	50252883	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:50252883G>A	uc003cyn.4	+	4	503	c.362G>A	c.(361-363)gGg>gAg	p.G121E	SLC38A3_uc011bdl.2_Intron|SLC38A3_uc011bdm.2_Missense_Mutation_p.G53E	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	122					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	AAGTCCTCAGGGGTCGTGGGT	0.582000														87			18		0	0	1	0	0
PDGFB	5155	broad.mit.edu	37	22	39629528	39629528	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:39629528C>T	uc003axf.3	-	3	1150	c.161_splice	c.e3-1	p.E54_splice	PDGFB_uc003axe.3_Splice_Site_p.E39_splice	NM_002608	NP_002599	P01127	PDGFB_HUMAN	Homo sapiens platelet-derived growth factor beta polypeptide (PDGFB), transcript variant 1, mRNA.	54					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	Golgi membrane|basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	CCCCATCTTCCTCTGCAGGAG	0.652000			T	COL1A1	DFSP									62			23		0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97464925	97464925	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:97464925C>T	uc002swx.3	+	3	1911	c.1813C>T	c.(1813-1815)Cga>Tga	p.R605*	CNNM4_uc010yuy.2_Nonsense_Mutation_p.R92*	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	605					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CCTGTACACCCGAAATAAGCC	0.577000														79			21		0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170610362	170610362	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:170610362C>T	uc003mba.3	+	17	2108	c.1966C>T	c.(1966-1968)Cat>Tat	p.H656Y	RANBP17_uc003mbb.3_5'UTR|RANBP17_uc003mbd.3_Missense_Mutation_p.H19Y|RANBP17_uc010jjs.3_Non-coding_Transcript|RANBP17_uc003mbc.3_Missense_Mutation_p.H19Y	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	656					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGTGACAATCATAGTCTCAG	0.388000			T	TRD@	ALL									70			31		0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310178	124310178	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124310178C>T	uc010sal.2	-	0	804	c.804G>A	c.(802-804)atG>atA	p.M268I		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		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;0.0277)		TGCCCTGGTTCATAGCTAAAA	0.453000														48			25		0	0	1	0	0
VN1R5	317705	broad.mit.edu	37	1	247420072	247420072	+	Silent	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247420072T>A	uc010pyu.2	+	1	696	c.696T>A	c.(694-696)ccT>ccA	p.P232P		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	233					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			TTCATGGTCCTCTCAAGAGGC	0.458000														148			79		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19426254	19426254	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19426254C>T	uc010tcj.1	-	0		c.19856G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTCTTCTTTTCATTGCCTAGG	0.383000														21			5		0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49395053	49395053	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49395053G>A	uc021wxw.1	-	1	460	c.380C>T	c.(379-381)gCc>gTc	p.A127V	GPX1_uc021wxx.1_3'UTR	NM_000581	NP_000572	P07203	GPX1_HUMAN	Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA.	127					UV protection|anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion	cytosol|mitochondrion	SH3 domain binding|endopeptidase inhibitor activity|glutathione peroxidase activity			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CCGCAGGAAGGCGAAGAGAGG	0.632000														51			27		0	0	1	0	0
CLCN3	1182	broad.mit.edu	37	4	170618355	170618355	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:170618355C>T	uc003ish.3	+	8	1592	c.1033C>T	c.(1033-1035)Cct>Tct	p.P345S	CLCN3_uc003isi.3_Missense_Mutation_p.P345S|CLCN3_uc011cka.2_Missense_Mutation_p.P318S|CLCN3_uc011cjz.2_Missense_Mutation_p.P328S|CLCN3_uc003isj.2_Missense_Mutation_p.P318S	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	345					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CTATTATTTTCCTCTCAAAAC	0.294000														64			35		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219883777	219883777	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219883777C>T	uc002vjl.1	-	20	3682	c.3598G>A	c.(3598-3600)Gac>Aac	p.D1200N	CCDC108_uc002vjm.3_Missense_Mutation_p.D85N	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1200						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCATACCAGTCCAGGGACACC	0.602000														188			15		0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68208743	68208743	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:68208743G>A	uc003xxo.2	-	4	952	c.562C>T	c.(562-564)Ctc>Ttc	p.L188F		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	188					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGATTGATGAGATTTTTGCTT	0.373000														101			9		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70890760	70890760	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:70890760C>T	uc021vjc.1	-	15	2243	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_3'UTR|ADD2_uc002sgz.3_Missense_Mutation_p.E660K	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	660					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTGAGGATTTCCTCTGCCGTC	0.577000														99			56		0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115439652	115439652	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:115439652G>A	uc003ebr.2	+	3	1422	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	GAP43_uc003ebq.2_Missense_Mutation_p.E214K	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	214					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AGCTGTAGATGAAACCAAACC	0.433000														270			112		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179501469	179501469	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179501469C>T	uc021vsy.1	-	173	33506	c.33281G>A	c.(33280-33282)gGa>gAa	p.G11094E	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G4789E|TTN_uc021vta.1_Missense_Mutation_p.G4722E|TTN_uc021vtb.1_Missense_Mutation_p.G4597E|TTN_uc010fre.1_Missense_Mutation_p.G955E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12021	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G11093G(1)		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)			TCCACCACTTCCTGGCCTTAA	0.423000														57			24		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124401062	124401062	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124401062G>A	uc001uft.4	+	61	10452	c.10427G>A	c.(10426-10428)gGg>gAg	p.G3476E		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3476	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATAAAGTACGGGACCCCTTTC	0.453000														113			16		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123332988	123332988	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:123332988C>T	uc003ego.3	-	33	5991	c.5709G>A	c.(5707-5709)gaG>gaA	p.E1903E	MYLK-AS1_uc003egk.3_Intron|MYLK_uc003egl.3_Silent_p.E143E|MYLK_uc003egm.3_Silent_p.E142E|MYLK_uc010hrr.3_Silent_p.E338E|MYLK_uc011bjv.2_Silent_p.E703E|MYLK_uc011bjw.2_Silent_p.E1902E|MYLK_uc003egp.3_Silent_p.E1834E|MYLK_uc003egq.3_Silent_p.E1852E|MYLK_uc003egr.3_Silent_p.E1783E|MYLK_uc003egs.3_Silent_p.E1727E	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1903					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTCACCTTCCTCCATCGTTT	0.458000														292			32		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83675644	83675644	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:83675644G>A	uc003uhz.3	-	5	978	c.663C>T	c.(661-663)ctC>ctT	p.L221L		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	221	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACCTACCATTGAGCCACCTGG	0.423000														113			53		0	0	1	0	0
RASL11A	387496	broad.mit.edu	37	13	27847352	27847352	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:27847352C>T	uc001urd.1	+	3	1068	c.450C>T	c.(448-450)gaC>gaT	p.D150D		NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	Homo sapiens RAS-like, family 11, member A (RASL11A), mRNA.	150	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		ACAAGGGGGACCTTTTGCATG	0.532000														42			19		0	0	1	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84872160	84872160	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84872160C>T	uc010voh.1	+	1	286	c.59C>T	c.(58-60)tCc>tTc	p.S20F	CRISPLD2_uc010vog.1_Missense_Mutation_p.S20F|CRISPLD2_uc002fik.4_Missense_Mutation_p.S20F|CRISPLD2_uc002fil.2_Missense_Mutation_p.S20F|CRISPLD2_uc002fim.2_Missense_Mutation_p.S20F|CRISPLD2_uc002fin.4_Missense_Mutation_p.S20F	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA.	20						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GTCTGCGGATCCCAAGGCTAC	0.617000														86			30		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43226909	43226909	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43226909C>T	uc003ouq.1	+	10	1429	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	384						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGGGCTGGGCCCCAGTCCCCA	0.627000														75			20		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68696733	68696733	+	Silent	SNP	C	T	T	rs145314949	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:68696733C>T	uc001ook.1	+	7	1245	c.1143C>T	c.(1141-1143)ctC>ctT	p.L381L	IGHMBP2_uc001ooj.1_Non-coding_Transcript|IGHMBP2_uc001ool.1_5'Flank	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	381	Leu-rich.				DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCCAGGCCCTCGAGGCGAGCT	0.627000														85			24		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43221192	43221192	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:43221192C>T	uc002lbe.3	+	7	1826	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L	SLC14A2_uc002lbb.3_Missense_Mutation_p.P337L|SLC14A2_uc010dnj.3_Missense_Mutation_p.P337L	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	337						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGGCCACACCCTTCGAGACC	0.572000														42			19		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168093495	168093495	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:168093495C>T	uc010jjg.3	-	35	4977	c.4557G>A	c.(4555-4557)gaG>gaA	p.E1519E	SLIT3_uc003mab.3_Silent_p.E1512E	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1512	CTCK.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTAAGTGTCTCTCCACCTCTT	0.642000														18			6		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3889591	3889591	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:3889591C>T	uc022aqr.1	-	3	836	c.446G>A	c.(445-447)gGa>gAa	p.G149E		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	149	Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGATTTCTCCAGGATTTCC	0.418000														45			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085734	9085734	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9085734G>A	uc002mkp.3	-	0	6285	c.6081C>T	c.(6079-6081)tcC>tcT	p.S2027S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2027	Ser-rich.|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						AATATGGAGAGGATGTGCTGC	0.483000														71			17		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018779	14018779	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:14018779G>A	uc001rbt.2	-	1	543	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	122					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCAGGATGGGGGTGAGAGTC	0.547000														133			60		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106368637	106368637	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106368637C>T	uc021ser.1	-	3566		c.55317_splice	c.e3566-1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron					Parts of antibodies, mostly variable regions.																		GCCAGGGGCCCCCAGGACTGG	0.652000														20			6		0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711684	20711684	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20711684G>A	uc010tld.2	+	0	734	c.734G>A	c.(733-735)aGa>aAa	p.R245K		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		GCTGGTCGGAGAAAAGCCTTC	0.433000														379			45		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142612703	142612703	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142612703C>T	uc003wby.1	-	8	1422	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	386					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.L386L(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCTCCCCCACCAGCCTGATGA	0.537000														38			12		0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	131009728	131009728	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131009728C>T	uc022bob.1	+	16	1943	c.1856C>T	c.(1855-1857)tCc>tTc	p.S619F	DNM1_uc022bny.1_Missense_Mutation_p.S619F|DNM1_uc022bnz.1_3'UTR|DNM1_uc022boa.1_3'UTR|DNM1_uc004bub.1_5'UTR|DNM1_uc004buc.1_Missense_Mutation_p.S86F|MIR199B_uc004bue.1_5'Flank|MIR3154_uc022boc.1_5'Flank	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	619	PH.				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TGGAAGGCCTCCTTCCTGAGG	0.607000														21			6		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49219119	49219119	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:49219119G>A	uc010zyt.2	-	12	1400	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Silent_p.I379I|FAM65C_uc002xvn.1_Silent_p.I379I	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	379										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						GGTAGCTGAGGATGGAGGTGG	0.647000														78			6		0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74600939	74600939	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:74600939A>G	uc003xzm.3	-	4	565	c.224T>C	c.(223-225)cTt>cCt	p.L75P	STAU2_uc011lfh.2_Intron|STAU2_uc003xzn.3_Missense_Mutation_p.L43P|STAU2_uc011lfg.2_Intron|STAU2_uc003xzo.3_Missense_Mutation_p.L75P|STAU2_uc003xzq.3_Intron|STAU2_uc003xzp.3_Missense_Mutation_p.L43P|STAU2_uc011lfi.2_Missense_Mutation_p.L37P|STAU2_uc010lzk.3_Missense_Mutation_p.L43P|STAU2_uc010lzl.1_Intron|STAU2_uc003xzs.3_Missense_Mutation_p.L43P|STAU2_uc003xzr.3_Missense_Mutation_p.L37P	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	75	DRBM 1.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TGGTTTGGGAAGCGTAGATTC	0.463000														205			40		0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079766	31079766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31079766C>T	uc003nsk.1	-	1	370	c.370G>A	c.(370-372)Gag>Aag	p.E124K	PSORS1C1_uc003nsl.2_5'Flank|PSORS1C1_uc010jsj.2_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	124								p.E124*(2)		endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						AGGCGGTCCTCAGCCGCAGCA	0.652000														60			13		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8182167	8182167	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8182167C>T	uc002mjf.3	-	26	3489	c.3472G>A	c.(3472-3474)Gaa>Aaa	p.E1158K		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1158	EGF-like 16; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACCCGGCATTCGTTGATGTCT	0.642000														29			7		0	0	1	0	0
TMEM98	26022	broad.mit.edu	37	17	31261321	31261321	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:31261321C>T	uc002hhq.3	+	4	734	c.276C>T	c.(274-276)tcC>tcT	p.S92S	TMEM98_uc002hhr.3_Silent_p.S92S	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	Homo sapiens transmembrane protein 98 (TMEM98), transcript variant 1, mRNA.	92						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			GTCTCATGTCCCACTGCATTG	0.537000														56			7		0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13613147	13613147	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:13613147G>A	uc011avc.2	+	1	1674	c.1292G>A	c.(1291-1293)aGa>aAa	p.R431K	FBLN2_uc011auz.2_Missense_Mutation_p.R457K|FBLN2_uc011avb.2_Missense_Mutation_p.R431K|FBLN2_uc011ava.2_Missense_Mutation_p.R431K	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	431	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TCTATCCCCAGAAGTAGCCCT	0.612000														15			7		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48606480	48606480	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48606480C>T	uc010wmr.2	+	17	2946	c.2784C>T	c.(2782-2784)atC>atT	p.I928I	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	891					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCCCTGACATCATCCTCTCTT	0.517000														47			21		0	0	1	0	0
CEBPE	1053	broad.mit.edu	37	14	23588189	23588189	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23588189C>T	uc001wiv.2	-	0	632	c.112G>A	c.(112-114)Gcc>Acc	p.A38T		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE), mRNA.	38						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TCAATGGAGGCCTCATGCTCA	0.642000														94			21		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92442776	92442776	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:92442776G>A	uc001dol.4	+	6	1213	c.795G>A	c.(793-795)aaG>aaA	p.K265K	BRDT_uc010osz.2_Silent_p.K269K|BRDT_uc001dok.4_Silent_p.K265K|BRDT_uc009wdf.3_Silent_p.K192K|BRDT_uc010otb.2_Silent_p.K219K|BRDT_uc010ota.2_Silent_p.K219K|BRDT_uc001dom.4_Silent_p.K265K	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	265				K -> E (in Ref. 1; AAB87862).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATGTTGTGAAGACTGTTAAAG	0.348000														69			22		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33502596	33502596	+	Silent	SNP	G	A	A	rs144422380		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:33502596G>A	uc001iwx.4	-	8	1855	c.1332C>T	c.(1330-1332)gaC>gaT	p.D444D	NRP1_uc001iwv.4_Silent_p.D444D|NRP1_uc001iwy.4_Silent_p.D444D|NRP1_uc009xlz.3_Silent_p.D444D|NRP1_uc001iww.4_Silent_p.D263D|NRP1_uc001iwz.2_Silent_p.D444D|NRP1_uc001ixa.2_Silent_p.D444D|NRP1_uc001ixb.2_Silent_p.D444D|NRP1_uc001ixc.1_Silent_p.D444D	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	444	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TGATCTGGGAGTCAGAAATAA	0.493000														122			8		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106968913	106968913	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:106968913C>T	uc003prh.3	+	1	3518	c.2606C>T	c.(2605-2607)tCc>tTc	p.S869F		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	869							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CAGAACGGTTCCCTATCTCAG	0.463000														58			34		0	0	1	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873403	37873403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:37873403G>A	uc021vfz.1	-	0	328	c.328C>T	c.(328-330)Ccg>Tcg	p.P110S	CDC42EP3_uc002rqi.1_Missense_Mutation_p.P110S	NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 3 (CDC42EP3), mRNA.	110					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				CCAATGGTCGGGAGGGAGATG	0.547000														151			18		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717239	13717239	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:13717239C>T	uc001rbt.2	-	12	3112	c.2933G>A	c.(2932-2934)aGc>aAc	p.S978N		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	978					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTACACGTTGCTGTCCTTCAG	0.542000														76			14		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631840	156631840	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:156631840C>T	uc003iov.3	+	6	1059	c.523C>T	c.(523-525)Cat>Tat	p.H175Y	GUCY1A3_uc003iou.2_Missense_Mutation_p.H175Y|GUCY1A3_uc010iqc.2_Missense_Mutation_p.H175Y|GUCY1A3_uc010iqd.3_Missense_Mutation_p.H174Y|GUCY1A3_uc003iow.3_Missense_Mutation_p.H175Y|GUCY1A3_uc003iox.3_Missense_Mutation_p.H175Y|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Missense_Mutation_p.H175Y|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.H175Y	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	175				VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ACAGAGCAGCCATTGCCAAGA	0.433000														57			29		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582563	82582563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82582563G>A	uc003uhx.2	-	4	7995	c.7706C>T	c.(7705-7707)tCa>tTa	p.S2569L	PCLO_uc003uhv.2_Missense_Mutation_p.S2569L|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2500					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						AAATCTTGGTGAAGACTTGTT	0.403000														131			48		0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52781677	52781677	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:52781677G>A	uc001wzr.3	+	0	662	c.411G>A	c.(409-411)tcG>tcA	p.S137S		NM_000956	NP_000947	P43116	PE2R2_HUMAN	Homo sapiens prostaglandin E receptor 2 (subtype EP2), 53kDa (PTGER2), mRNA.	137						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	GCTACCTCTCGATCGGGCACC	0.652000														140			14		0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132212883	132212883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:132212883C>T	uc001uja.1	+	6	1131	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	SFSWAP_uc010tbn.1_Missense_Mutation_p.R331C|SFSWAP_uc001ujb.1_Missense_Mutation_p.R124C|SFSWAP_uc001uiz.1_Missense_Mutation_p.R205C	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	331					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding	p.R331C(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGCACTTGTTCGTAAGGCACA	0.552000														81			42		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73462885	73462885	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:73462885C>T	uc003tzw.3	+	15	890	c.799_splice	c.e15+1	p.G267_splice	ELN_uc003tzm.1_Splice_Site|ELN_uc003tzn.3_Splice_Site_p.G267_splice|ELN_uc003tzy.3_Splice_Site_p.G262_splice|ELN_uc003tzz.3_Splice_Site_p.G231_splice|ELN_uc003tzo.3_Splice_Site_p.G253_splice|ELN_uc003tzp.3_Splice_Site_p.G223_splice|ELN_uc003tzq.3_Splice_Site_p.G150_splice|ELN_uc003tzr.3_Splice_Site|ELN_uc003tzs.3_Splice_Site_p.G267_splice|ELN_uc003tzt.3_Splice_Site_p.G272_splice|ELN_uc003tzu.3_Splice_Site_p.G272_splice|ELN_uc003tzv.3_Splice_Site_p.G257_splice|ELN_uc011kfe.2_Splice_Site|ELN_uc003tzx.3_Splice_Site_p.G257_splice|ELN_uc011kff.2_Splice_Site_p.G267_splice	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	267	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	p.F266F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	cagcaAAGTTCGGTGAGTGCC	0.607000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							65			5		0	0	1	0	0
NGDN	25983	broad.mit.edu	37	14	23944473	23944473	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23944473C>T	uc001wjy.3	+	3	265	c.238C>T	c.(238-240)Ctt>Ttt	p.L80F	NGDN_uc001wjz.3_Missense_Mutation_p.L80F	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	Homo sapiens neuroguidin, EIF4E binding protein (NGDN), transcript variant 1, mRNA.	80	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus		p.L80V(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AGGAGGATCTCTTCAGGGACA	0.468000														69			41		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52942175	52942175	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52942175C>T	uc002pzk.3	+	3	1568	c.1501C>T	c.(1501-1503)Cat>Tat	p.H501Y	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.H488Y	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TAGGAAAATTCATACTGGAGA	0.403000														18			3		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881391	26881391	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:26881391C>A	uc003jgs.1	-	11	2393	c.2224G>T	c.(2224-2226)Ggg>Tgg	p.G742W	CDH9_uc011cnv.1_Missense_Mutation_p.G335W	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	742					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G742G(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GAATCATTCCCTTCATAGGCA	0.418000														122			32		6.00712e-18	6.03926e-18	1	1	0
MUC16	94025	broad.mit.edu	37	19	9083611	9083611	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9083611G>A	uc002mkp.3	-	0	8408	c.8204C>T	c.(8203-8205)cCa>cTa	p.P2735L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2735	Ser-rich.|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						TGTATTCCGTGGAGCAACAAT	0.463000														84			37		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61597340	61597340	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61597340G>A	uc010xev.2	+	5	642	c.552G>A	c.(550-552)gtG>gtA	p.V184V	SERPINB2_uc010xew.2_Silent_p.V184V	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	199					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)	TGATTCTGGTGAACGCCCTAT	0.388000														91			7		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156937867	156937867	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156937867G>A	uc001fqo.3	-	9	1795	c.755C>T	c.(754-756)cCt>cTt	p.P252L	ARHGEF11_uc001fqn.3_Missense_Mutation_p.P292L	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	252					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGAGGTTCGAGGACTGTCTAG	0.567000														31			30		0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48124509	48124510	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:48124509_48124510CC>TT	uc002xut.3	-	9	1504_1505	c.1450_1451GG>AA	c.(1450-1452)ggt>AAt	p.G484N	PTGIS_uc010zyi.2_Missense_Mutation_p.G345N	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	484					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	CTGCATCAGACCGAAGCCGTAC	0.599000														38			13		0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64967823	64967823	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:64967823C>G	uc002ann.3	+	3	2770	c.2770C>G	c.(2770-2772)Ctg>Gtg	p.L924V		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	924						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGCCAGGCCCTGAAGACAAA	0.507000														193			16		0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45561771	45561771	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:45561771C>T	uc003cop.1	+	18	2460	c.2275C>T	c.(2275-2277)Ctc>Ttc	p.L759F	LARS2_uc010hit.1_Missense_Mutation_p.L716F	NM_015340	NP_056155	Q15031	SYLM_HUMAN	Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA.	759					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	GCTGATGGGACTCAGCAATGC	0.493000														98			13		0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6026741	6026741	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:6026741T>C	uc003spl.3	-	10	1742	c.1655A>G	c.(1654-1656)cAt>cGt	p.H552R	PMS2_uc003spj.3_Missense_Mutation_p.H446R|PMS2_uc003spk.3_Missense_Mutation_p.H417R|PMS2_uc011jwl.2_Missense_Mutation_p.H417R|PMS2_uc010ktg.3_Missense_Mutation_p.H241R|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Missense_Mutation_p.H552R	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	552					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTGGTTTGAATGGCAGTCCAC	0.473000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					217			88		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52595973	52595973	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:52595973C>T	uc001jjj.3	-	5	653	c.465G>A	c.(463-465)gaG>gaA	p.E155E	A1CF_uc010qho.2_Silent_p.E163E|A1CF_uc010qhn.2_Silent_p.E163E|A1CF_uc009xov.3_Silent_p.E155E|A1CF_uc001jji.3_Silent_p.E155E|A1CF_uc001jjh.3_Silent_p.E163E	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	155	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCTTTTTCATCTCCGATAAGA	0.468000														131			29		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685759	248685759	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248685759G>A	uc001ien.1	+	0	812	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAAACCAGGGAAAGTTTGTT	0.438000														89			28		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233769	21233769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21233769C>T	uc002red.3	-	25	6099	c.5971G>A	c.(5971-5973)Gaa>Aaa	p.E1991K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1991					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGCTGTATTCATTGTTGTTA	0.463000														95			31		0	0	1	0	0
SPRYD3	84926	broad.mit.edu	37	12	53461987	53461987	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53461987G>A	uc001sbt.2	-	6	882	c.795C>T	c.(793-795)atC>atT	p.I265I	SPRYD3_uc010snw.2_Silent_p.I91I	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA.	265										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CAGGGTCCACGATCTCCACCT	0.612000														132			52		0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56565478	56565478	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56565478G>A	uc002iwi.1	-	0	282	c.158C>T	c.(157-159)cCg>cTg	p.P53L		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	53						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					cggcccgggcgggcTGAGCAG	0.721000														12			5		0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83456104	83456104	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83456104C>T	uc002bjd.2	-	1	206	c.39G>A	c.(37-39)agG>agA	p.R13R	FSD2_uc010uol.1_Silent_p.R13R|FSD2_uc010uom.1_Silent_p.R13R	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	13										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TGGGAGTAGACCTGTCCAGCC	0.468000														64			65		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438476	179438476	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179438476C>T	uc021vsy.1	-	274	64904	c.64679G>A	c.(64678-64680)gGa>gAa	p.G21560E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G15255E|TTN_uc021vta.1_Missense_Mutation_p.G15188E|TTN_uc021vtb.1_Missense_Mutation_p.G15063E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22487	Fibronectin type-III 56.						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)			AGCCAAAGGTCCTTCAGGTGG	0.448000														94			29		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67664986	67664986	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:67664986C>T	uc002aqo.2	+	8	1388	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C	IQCH_uc010ujv.2_Missense_Mutation_p.R250C|IQCH_uc002aqn.2_Missense_Mutation_p.R258C|IQCH_uc002aqp.2_Missense_Mutation_p.R183C|IQCH_uc002aqq.2_Missense_Mutation_p.R179C	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	431										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GGAGAATTTTCGCATTCGAGC	0.443000														174			52		0	0	1	0	0
POLR3D	661	broad.mit.edu	37	8	22106037	22106037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:22106037C>T	uc003xbl.3	+	5	613	c.530C>T	c.(529-531)cCt>cTt	p.P177L	POLR3D_uc003xbm.3_Missense_Mutation_p.P177L|POLR3D_uc011kze.2_Non-coding_Transcript	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	177					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CGAAATATGCCTGTGCAGCTG	0.537000														88			40		0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991161	21991161	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:21991161G>A	uc002nqj.3	-	3	1808	c.1678C>T	c.(1678-1680)Cat>Tat	p.H560Y	ZNF43_uc002nql.3_Missense_Mutation_p.H554Y|ZNF43_uc002nqm.3_Missense_Mutation_p.H554Y|ZNF43_uc010ecv.3_Missense_Mutation_p.H554Y|ZNF43_uc002nqk.3_Missense_Mutation_p.H490Y	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCTCCAGTATGAATCCTCTTA	0.363000														69			37		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201046127	201046127	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201046127C>T	uc001gvv.3	-	11	1975	c.1748G>A	c.(1747-1749)gGg>gAg	p.G583E		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	583					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GTCATACCTCCCCCCAAAGAG	0.572000														100			35		0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34092618	34092618	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34092618C>T	uc021wco.1	+	29	7068	c.6421C>T	c.(6421-6423)Ctt>Ttt	p.L2141F	CEP250_uc010zve.2_Missense_Mutation_p.L1509F	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	2141	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ATCTCTAAAACTTGATTCTTT	0.557000														95			7		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183673094	183673094	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:183673094C>T	uc003ivd.1	+	18	3846	c.3771C>T	c.(3769-3771)gtC>gtT	p.V1257V	ODZ3_uc003ive.1_Silent_p.V670V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1257					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CAGAAGTCGTCGCAGGGACAG	0.537000														48			17		0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177675235	177675235	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:177675235C>T	uc021yiz.1	-	19	1528	c.1170G>A	c.(1168-1170)ggG>ggA	p.G390G	COL23A1_uc021yiy.1_Silent_p.G166G|COL23A1_uc010jkt.2_Silent_p.G272G	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	390	Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCCCCTTCTCCCCCTTGAGGC	0.647000														77			35		0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100888	93100888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:93100888C>T	uc001tch.2	+	1	932	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	C12orf74_uc001tci.3_Missense_Mutation_p.P161S|C12orf74_uc021rbt.1_Missense_Mutation_p.P161S	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	161										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCTGCCCAGCCCCACCCTACG	0.547000														41			7		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	825075	825075	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:825075C>T	uc002cjz.1	-	6	1497	c.1497G>A	c.(1495-1497)cgG>cgA	p.R499R		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	168					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CTCCAATGCACCGGGCCCATC	0.761000														18			6		0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133953998	133953998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:133953998C>T	uc001lkx.4	+	8	1388	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAAGAGGCTTCCCTGGAATCC	0.587000														26			8		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17418749	17418749	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17418749C>T	uc001mnc.3	-	31	4105	c.3979G>A	c.(3979-3981)Ggg>Agg	p.G1327R		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1327					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCCAGGAGCCCCTCGTAGCTC	0.637000														156			29		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161123349	161123349	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:161123349G>A	uc003qtm.4	+	0	125	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	PLG_uc021zhr.1_Missense_Mutation_p.E5K	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	5					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGAACATAAGGAAGTGGTTCT	0.368000														65			43		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428916	179428916	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179428916C>T	uc021vsy.1	-	274	74464	c.74239G>A	c.(74239-74241)Gaa>Aaa	p.E24747K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E18442K|TTN_uc021vta.1_Missense_Mutation_p.E18375K|TTN_uc021vtb.1_Missense_Mutation_p.E18250K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25674	Fibronectin type-III 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T24747N(1)		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)			TCTTCAAGTTCTTTTCCATCT	0.378000														177			60		0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23728509	23728509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:23728509C>T	uc002wtp.3	-	2	441	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	124						extracellular region	cysteine-type endopeptidase inhibitor activity	p.Y123C(1)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CAGGGAACTTCGTAGATCTCG	0.527000														34			31		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103124627	103124627	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103124627C>T	uc002tbz.4	+	4	1745	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	430					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						CAGTGGTGTTCGAGGAGCTGG	0.413000														86			39		0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40520580	40520580	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40520580C>T	uc002oms.2	+	6	1659	c.1403C>T	c.(1402-1404)cCc>cTc	p.P468L	ZNF546_uc002omt.2_Missense_Mutation_p.P442L	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GGTGAGAAACCCTATGAATGT	0.408000														85			27		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62718868	62718868	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62718868C>T	uc001dah.4	-	7	2930	c.2553G>A	c.(2551-2553)gtG>gtA	p.V851V	KANK4_uc001dai.4_Silent_p.V223V|KANK4_uc001daf.4_5'UTR|KANK4_uc001dag.4_Silent_p.V207V	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	851										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TCTGATGGTCCACATTGCAGA	0.537000														87			27		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101510475	101510475	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:101510475G>A	uc010svm.1	+	24	3041	c.2469G>A	c.(2467-2469)gtG>gtA	p.V823V	ANO4_uc001thw.2_Silent_p.V788V|ANO4_uc001thx.2_Silent_p.V823V|ANO4_uc001thy.2_Silent_p.V343V	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	823						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						TTGGCTATGTGAATGCCAGCT	0.473000										HNSCC(74;0.22)				207			79		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71891404	71891404	+	Silent	SNP	C	T	T	rs151276652	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71891404C>T	uc010fen.3	+	45	5151	c.5010C>T	c.(5008-5010)ttC>ttT	p.F1670F	DYSF_uc010fei.3_Silent_p.F1648F|DYSF_uc010feh.3_Silent_p.F1638F|DYSF_uc002sig.4_Silent_p.F1617F|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.F1662F|DYSF_uc010fee.3_Silent_p.F1652F|DYSF_uc010fef.3_Silent_p.F1669F|DYSF_uc002sie.3_Silent_p.F1631F|DYSF_uc010feo.3_Silent_p.F1663F|DYSF_uc010fej.3_Silent_p.F1639F|DYSF_uc010fel.3_Silent_p.F1618F|DYSF_uc010fem.3_Silent_p.F1653F|DYSF_uc002sif.3_Silent_p.F1632F|DYSF_uc010fek.3_Silent_p.F1649F|DYSF_uc010yqy.2_Silent_p.F512F|DYSF_uc010yqz.2_Silent_p.F392F	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1631						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCAGGATGTTCGAGCTGACCT	0.572000														65			33		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55266508	55266508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55266508C>T	uc003tqk.3	+	22	3046	c.2800C>T	c.(2800-2802)Cct>Tct	p.P934S	EGFR_uc022adm.1_Missense_Mutation_p.P934S|EGFR_uc010kzg.2_Missense_Mutation_p.P889S|EGFR_uc022adn.1_Missense_Mutation_p.P889S|EGFR_uc011kco.2_Missense_Mutation_p.P881S	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	934	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGAACGCCTCCCTCAGCCACC	0.542000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				58			15		0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247654918	247654918	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247654918G>A	uc001icz.2	+	0	549	c.489G>A	c.(487-489)acG>acA	p.T163T		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCCTCAGACGATGCAGCTCT	0.557000														61			31		0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46497370	46497370	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46497370G>A	uc003cpq.3	-	3	656	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	LTF_uc003fzr.3_Missense_Mutation_p.R95C|LTF_uc010hjh.3_Missense_Mutation_p.R139C|LTF_uc003cpr.3_Missense_Mutation_p.R126C	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	139	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GCGGTCCTGCGAAGGCCTGTG	0.562000														39			13		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19339336	19339336	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19339336C>T	uc002nlz.3	+	7	3006	c.2907C>T	c.(2905-2907)ttC>ttT	p.F969F	NCAN_uc010ecc.1_Silent_p.F533F	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	969					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TAGAGGACTTCGAACTGGAGG	0.642000														120			49		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161019326	161019326	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161019326C>T	uc001fxl.3	-	10	1920	c.1574G>A	c.(1573-1575)gGg>gAg	p.G525E	ARHGAP30_uc001fxk.3_Missense_Mutation_p.G525E|ARHGAP30_uc001fxm.3_Missense_Mutation_p.G371E|ARHGAP30_uc009wtx.3_Missense_Mutation_p.G198E|ARHGAP30_uc001fxn.1_Missense_Mutation_p.G371E	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	525					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ATCCTCTGCCCCCACCCACTC	0.647000														110			32		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64603064	64603064	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64603064C>T	uc001obs.4	-	14	1788	c.1788G>A	c.(1786-1788)ggG>ggA	p.G596G		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	596					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						GGGGTCCCATCCCGTTGGTCT	0.667000														94			20		0	0	1	0	0
ZGPAT	84619	broad.mit.edu	37	20	62367218	62367218	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62367218C>A	uc002ygk.3	+	6	1732	c.1543C>A	c.(1543-1545)Ctg>Atg	p.L515M	ZGPAT_uc002ygi.2_Missense_Mutation_p.L495M|ZGPAT_uc010gkk.2_Missense_Mutation_p.L72M|ZGPAT_uc010gkl.2_Missense_Mutation_p.L495M|ZGPAT_uc002ygm.3_Missense_Mutation_p.L486M|ZGPAT_uc002ygj.2_Missense_Mutation_p.L495M|ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_5'UTR|ZGPAT_uc002ygp.4_5'UTR	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	515					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GGAAGCCGGCCTGCAGCAGGA	0.652000														37			26		2.12542e-12	2.13459e-12	1	1	0
KIAA0319	9856	broad.mit.edu	37	6	24559266	24559266	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:24559266G>A	uc011djo.2	-	16	3209	c.2709C>T	c.(2707-2709)ttC>ttT	p.F903F	KIAA0319_uc011djp.2_Silent_p.F858F|KIAA0319_uc003neh.1_Silent_p.F903F|KIAA0319_uc011djq.1_Silent_p.F894F|KIAA0319_uc011djr.1_Silent_p.F903F|KIAA0319_uc010jpt.1_Silent_p.F314F	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	903					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCAAGACCTTGAAAAGCAAGA	0.453000														18			7		0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28534587	28534587	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:28534587C>T	uc003szq.3	+	2	529	c.139C>T	c.(139-141)Cct>Tct	p.P47S	CREB5_uc003szo.3_Missense_Mutation_p.P14S|CREB5_uc003szr.3_Missense_Mutation_p.P40S	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	47					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TTTGAAGTTTCCTTCAATAAA	0.408000														111			38		0	0	1	0	0
SLC2A8	29988	broad.mit.edu	37	9	130167124	130167124	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130167124C>T	uc004bqu.3	+	7	1049	c.1004C>T	c.(1003-1005)gCc>gTc	p.A335V	SLC2A8_uc010mxj.3_Missense_Mutation_p.A335V	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 8 (SLC2A8), mRNA.	335						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						AGCACGAGTGCCTTCGGCGCC	0.687000														42			9		0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349343	150349343	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:150349343G>A	uc010ntg.2	+	1	1426	c.1288G>A	c.(1288-1290)Ggt>Agt	p.G430S		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	430	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGCCTCTGGTCACCCCAA	0.547000														100			145		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25376587	25376587	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25376587G>A	uc001upr.3	+	13	1868	c.1827G>A	c.(1825-1827)atG>atA	p.M609I	RNF17_uc010tdd.1_Missense_Mutation_p.M468I|RNF17_uc010tde.2_Missense_Mutation_p.M609I|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.M548I	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	609					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)		CTGTTTCAATGAAAGTTTTTA	0.363000														84			37		0	0	1	0	0
OR9G9	390174	broad.mit.edu	37	11	56468488	56468488	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56468488C>T	uc010rjn.2	+	0	625	c.625C>T	c.(625-627)Ccc>Tcc	p.P209S	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TGTCATCTGCCCCGCAGTGCT	0.527000														215			13		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108385508	108385508	+	Silent	SNP	G	A	A	rs116742815	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:108385508G>A	uc001pkk.3	-	5	837	c.726C>T	c.(724-726)ttC>ttT	p.F242F	EXPH5_uc010rvz.2_Silent_p.F86F|EXPH5_uc010rvy.2_Silent_p.F54F	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	242					intracellular protein transport		Rab GTPase binding	p.F242F(2)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAAAGTGACCGAACTGTGTTC	0.383000														115			50		0	0	1	0	0
ZNF850	342892	broad.mit.edu	37	19	37240729	37240729	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:37240729G>A	uc010efc.3	-	4	1372	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	ZNF850_uc010xtm.2_Missense_Mutation_p.R371C	NM_001193552	NP_001180481	A8MQ14	ZN850_HUMAN	Homo sapiens zinc finger protein 850 (ZNF850), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AACCCTGAGCGAAAAGTAAAA	0.383000														9			9		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39425938	39425938	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:39425938C>T	uc001uwv.3	+	10	7167	c.6858C>T	c.(6856-6858)tcC>tcT	p.S2286S	FREM2_uc001uww.3_Silent_p.S372S	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2286	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAAAGGTTTCCATTGTGAGAG	0.507000														62			22		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48719832	48719832	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:48719832G>A	uc001zwx.2	-	57	7531	c.7136C>T	c.(7135-7137)cCt>cTt	p.P2379L	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2379	TB 9.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCCCTGGAAAGGGCAGATCTC	0.527000														79			8		0	0	1	0	0
NUP54	53371	broad.mit.edu	37	4	77055431	77055431	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77055431G>A	uc003hjs.3	-	4	735	c.607C>T	c.(607-609)Cga>Tga	p.R203*	NUP54_uc010ije.3_Intron|NUP54_uc011cbs.2_Nonsense_Mutation_p.R23*|NUP54_uc011cbt.2_Nonsense_Mutation_p.R155*|NUP54_uc003hjt.3_Nonsense_Mutation_p.R23*	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	Homo sapiens nucleoporin 54kDa (NUP54), mRNA.	203	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		p.I202I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TGTTGGCTTCGAATCTCTGTT	0.388000														60			7		0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282509	69282509	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:69282509C>T	uc004dxu.1	+	0	169	c.135C>T	c.(133-135)ctC>ctT	p.L45L		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	45										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGCAGTTGCTCCAAGACGTGG	0.582000														7			5		0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191299	6191299	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6191299G>A	uc010qzy.2	-	0	258	c.258C>T	c.(256-258)atC>atT	p.I86I		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A85S(1)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGCCAAAAGATGGCTAGGG	0.493000														125			47		0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42437980	42437980	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42437980C>T	uc001zoz.3	-	14	1748	c.1656G>A	c.(1654-1656)cgG>cgA	p.R552R	PLA2G4F_uc010bcq.3_5'Flank|PLA2G4F_uc001zoy.3_Silent_p.R184R|PLA2G4F_uc001zpa.3_Silent_p.R303R|PLA2G4F_uc010bcr.3_Silent_p.R303R|PLA2G4F_uc010bcs.3_Silent_p.R339R	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	552	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGTAACAGATCCGGGGTTCAG	0.632000														63			9		0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187419802	187419802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:187419802C>T	uc003fro.1	-	0	544	c.115G>A	c.(115-117)Gag>Aag	p.E39K	LOC100131635_uc021xio.1_5'Flank	NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA.	39					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GGGGCCAGCTCACTGGGCTTG	0.592000														181			49		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082626	9082626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9082626C>T	uc002mkp.3	-	0	9393	c.9189G>A	c.(9187-9189)agG>agA	p.R3063R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3064	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						TGTTGGGCTGCCTTGCCATGG	0.483000														129			44		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497619	1497619	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:1497619C>T	uc003wpl.3	+	1	857	c.760C>T	c.(760-762)Ccc>Tcc	p.P254S	DLGAP2_uc003wpm.3_Missense_Mutation_p.P254S	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	333					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCTGCAGAGCCCCTTCGGGGA	0.662000														112			14		0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861330	55861330	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55861330C>T	uc010rix.2	+	0	547	c.547C>T	c.(547-549)Ctt>Ttt	p.L183F		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L183F(2)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CACCACAGCTCTTTTAGCACT	0.438000														165			51		0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201286864	201286864	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201286864C>T	uc001gwd.3	+	4	1262	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	PKP1_uc001gwe.3_Silent_p.L337L|PKP1_uc009wzm.3_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	337					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CAGTCAGCCTCCTGAGGAGAA	0.647000														31			11		0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	159997081	159997081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:159997081G>A	uc021xgr.1	-	14	1782	c.1736C>T	c.(1735-1737)tCc>tTc	p.S579F	IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Missense_Mutation_p.S442F|IFT80_uc021xgq.1_Missense_Mutation_p.S577F|IFT80_uc003fde.2_Missense_Mutation_p.S442F|IFT80_uc003fdd.2_Missense_Mutation_p.S262F	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	579						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTGAACCAGGGAGCCATCAGC	0.358000														55			26		0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17927185	17927185	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:17927185G>A	uc002rco.3	-	2	325	c.29C>T	c.(28-30)tCc>tTc	p.S10F	SMC6_uc010exo.3_Missense_Mutation_p.S10F|SMC6_uc002rcn.3_Missense_Mutation_p.S10F|SMC6_uc002rcp.1_Missense_Mutation_p.S10F|SMC6_uc002rcq.2_Missense_Mutation_p.S10F|SMC6_uc002rcr.1_Missense_Mutation_p.S10F	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	10					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTAGGAGAGGAAAAATTTTC	0.328000														25			7		0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241964441	241964441	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:241964441G>A	uc001hzg.2	+	26	3377	c.3170G>A	c.(3169-3171)cGa>cAa	p.R1057Q	WDR64_uc021pli.1_Missense_Mutation_p.R610Q	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	1057										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CAGGCACCACGAAGAAGAAGT	0.373000														74			25		0	0	1	0	0
CLDN18	51208	broad.mit.edu	37	3	137749945	137749945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:137749945G>A	uc003ero.1	+	4	801	c.748G>A	c.(748-750)Gag>Aag	p.E250K	CLDN18_uc003erp.1_Missense_Mutation_p.E250K|CLDN18_uc010hue.1_Missense_Mutation_p.E206K	NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	250					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.E250D(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CACAGAGGACGAGGTACAATC	0.517000														112			43		0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966227	2966227	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:2966227G>A	uc021tns.1	-	0	675	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						GCATTTGAAGGATGGTTCTGA	0.493000														26			10		0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	85863064	85863064	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:85863064C>T	uc004ams.2	-	13	1765	c.1563G>A	c.(1561-1563)gtG>gtA	p.V521V	FRMD3_uc004amr.1_Silent_p.V521V|FRMD3_uc022bja.1_Silent_p.V477V|FRMD3_uc004amq.1_Silent_p.V178V|FRMD3_uc022biz.1_Silent_p.V327V	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	521						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CCAGTGGGTTCACCCGAATAT	0.517000														58			26		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119943026	119943026	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:119943026G>A	uc001txe.3	+	6	1266	c.801G>A	c.(799-801)gtG>gtA	p.V267V	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	267										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCCCAAGTGTGAACACCCAGG	0.552000														199			56		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126328089	126328089	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126328089C>T	uc003ifj.4	+	2	5362	c.5362C>T	c.(5362-5364)Cgc>Tgc	p.R1788C	FAT4_uc011cgp.2_Missense_Mutation_p.R86C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1788	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R1788H(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGATAGTTTTCGCATCGACCC	0.463000														92			50		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61557841	61557841	+	Missense_Mutation	SNP	G	A	A	rs149412997	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61557841G>A	uc002jau.2	+	4	833	c.799G>A	c.(799-801)Gga>Aga	p.G267R	ACE_uc010wpi.2_Missense_Mutation_p.G267R|ACE_uc010ddu.2_Missense_Mutation_p.G84R	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	267	Peptidase M2 1.				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)	TCGCCGATACGGAGACAGATA	0.607000														87			34		0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60370618	60370618	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:60370618C>T	uc001czq.3	-	6	1121	c.1116G>A	c.(1114-1116)atG>atA	p.M372I		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	372					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TGATGTTGCCCATTCTCTGCA	0.557000														85			34		0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81592522	81592522	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:81592522C>T	uc021ssh.1	+	12	2956	c.2855C>T	c.(2854-2856)tCt>tTt	p.S952F	IL16_uc010blq.1_Missense_Mutation_p.S906F|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.S994F|IL16_uc002bgg.3_Missense_Mutation_p.S952F|IL16_uc002bgi.1_Missense_Mutation_p.S342F|IL16_uc002bgj.3_Missense_Mutation_p.S446F|IL16_uc021ssi.1_Missense_Mutation_p.S251F|IL16_uc002bgl.1_Missense_Mutation_p.S251F|IL16_uc010unq.1_Missense_Mutation_p.S251F	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	952					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCTGAGGAATCTCAAGGCCCA	0.617000														46			50		0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50909687	50909687	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50909687C>T	uc010eny.3	+	10	1408	c.1407C>T	c.(1405-1407)ctC>ctT	p.L469L	POLD1_uc002psb.4_Silent_p.L469L|POLD1_uc002psc.4_Silent_p.L469L|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	469					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		AGTACAAGCTCCGCTCCTACA	0.657000								DNA polymerases (catalytic subunits)						4			4		0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73122195	73122195	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73122195T>G	uc001jrr.4	+	5	1315	c.1258T>G	c.(1258-1260)Tcc>Gcc	p.S420A	SLC29A3_uc001jrs.4_3'UTR|SLC29A3_uc010qjq.2_Missense_Mutation_p.S274A|SLC29A3_uc001jrt.4_Missense_Mutation_p.S214A	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	420					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						ACTCCTCAGCTCCCTGCTGGG	0.632000														90			30		0	0	1	0	0
NAT16	375607	broad.mit.edu	37	7	100815389	100815389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100815389C>T	uc003uxy.2	-	3	1320	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	NAT16_uc003uxz.2_Missense_Mutation_p.E361K	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	Homo sapiens N-acetyltransferase 16 (GCN5-related, putative) (NAT16), mRNA.	361							N-acetyltransferase activity										AGGTACTGTTCAGTATAACCC	0.622000														51			17		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38768370	38768370	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38768370G>A	uc003ciq.3	-	15	2814	c.2814C>T	c.(2812-2814)ttC>ttT	p.F938F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	938					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGGCTGGGGGAATGGGCAGG	0.602000														83			27		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69798419	69798419	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69798419C>T	uc003hef.2	-	2	954	c.923G>A	c.(922-924)gGg>gAg	p.G308E	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	308						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAACAGTGACCCCAGAGAAAA	0.388000														200			52		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127611766	127611766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:127611766C>T	uc003kuu.3	-	58	7997	c.7558G>A	c.(7558-7560)Ggg>Agg	p.G2520R		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2520	EGF-like 42; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGACATACCCCCTCGGACAT	0.433000														148			31		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45678478	45678478	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45678478G>A	uc002zeg.1	-	5	928	c.444C>T	c.(442-444)tcC>tcT	p.S148S	DNMT3L_uc002zeh.1_Silent_p.S148S	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	148	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CGCTTCGGGAGGACGGCAGGC	0.662000														26			6		0	0	1	0	0
SLC35E3	55508	broad.mit.edu	37	12	69145889	69145889	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:69145889C>T	uc001suh.3	+	2	813	c.591C>T	c.(589-591)gcC>gcT	p.A197A		NM_018656	NP_061126	Q7Z769	S35E3_HUMAN	Homo sapiens solute carrier family 35, member E3 (SLC35E3), mRNA.	197						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TGTCATCTGCCATGTTGCTGG	0.443000														179			72		0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100491719	100491720	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100491719_100491720CC>TT	uc003uxd.3	-	0	290_291	c.134_135GG>AA	c.(133-135)ggg>gAA	p.G45E	ACHE_uc003uxe.3_Missense_Mutation_p.G45E|ACHE_uc003uxf.3_Missense_Mutation_p.G45E|ACHE_uc003uxg.3_Missense_Mutation_p.G45E|ACHE_uc003uxh.3_Missense_Mutation_p.G45E|ACHE_uc003uxi.3_Missense_Mutation_p.G45E|ACHE_uc003uxj.1_Missense_Mutation_p.G164E	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	45					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GCAGCCGGCCCCCACGCACCGT	0.693000														15			3		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67136784	67136784	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:67136784G>A	uc002jhw.1	-	1	236	c.61C>T	c.(61-63)Ctt>Ttt	p.L21F	ABCA6_uc002jhy.3_Missense_Mutation_p.L19F	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	21					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CATTTCTTAAGAAAATTCTTG	0.363000														90			23		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	95001578	95001578	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:95001578C>T	uc003unt.3	-	3	299	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	PON1_uc011kih.2_Intron|PON1_uc011kii.2_Missense_Mutation_p.E140K	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	92					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GGGTTTTGTTCATTCAGATCC	0.378000														83			24		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13363724	13363724	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:13363724G>A	uc003bxv.1	-	34	4967	c.4884C>T	c.(4882-4884)ttC>ttT	p.F1628F		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1628					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCTCCACGGTGAACACATCTT	0.537000														100			44		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79980472	79980472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:79980472C>T	uc004akr.3	+	59	8568	c.8308C>T	c.(8308-8310)Cat>Tat	p.H2770Y	VPS13A_uc004akp.4_Missense_Mutation_p.H2770Y|VPS13A_uc004akq.4_Missense_Mutation_p.H2770Y|VPS13A_uc004aks.3_Missense_Mutation_p.H2731Y	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2770					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGAATATTTTCATATATCTCC	0.299000														76			14		0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641014	36641014	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36641014G>A	uc002xhl.3	-	2	1414	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	TTI1_uc002xhm.3_Missense_Mutation_p.S402F	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	402							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AAGTAACAAGGAAAGAGTAGA	0.478000														84			45		0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173916423	173916423	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:173916423G>A	uc002uhv.4	+	30	3151	c.2964G>A	c.(2962-2964)cgG>cgA	p.R988R	RAPGEF4_uc002uhw.4_Silent_p.R844R	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	988	Ras-GEF.				G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GTTATGTACGGCAATTAAATG	0.408000														60			24		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487953	108487953	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:108487953G>A	uc010ywk.2	+	19	3575	c.3493G>A	c.(3493-3495)Gag>Aag	p.E1165K	RGPD4_uc002tdu.3_Missense_Mutation_p.E352K|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1165	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCAGAAATTTGAGGAATGCCA	0.433000														203			22		0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1956458	1956458	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1956458C>T	uc001aip.2	+	1	241	c.146C>T	c.(145-147)gCc>gTc	p.A49V		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	49						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGGCTGATAGCCGGCTACGCC	0.677000														40			12		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936761	4936761	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4936761G>A	uc001lzr.1	-	0	133	c.133C>T	c.(133-135)Ccg>Tcg	p.P45S		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTTGCCCGGGATGGAAACC	0.502000														79			17		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73056937	73056937	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:73056937G>A	uc001sxa.3	+	18	3067	c.3037G>A	c.(3037-3039)Gag>Aag	p.E1013K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	1013					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.E1013Q(2)		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						TTACCAAGACGAGCTTTTCCA	0.393000														36			12		0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323781	29323781	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29323781C>T	uc011dlo.2	-	0	274	c.192G>A	c.(190-192)ggG>ggA	p.G64G		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGGCCAAGTTCCCTAGAAAAT	0.408000														126			58		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207787802	207787802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207787802C>T	uc001hfy.3	+	31	5419	c.5279C>T	c.(5278-5280)gCc>gTc	p.A1760V	CR1_uc001hfx.3_Missense_Mutation_p.A2210V|CR1_uc021pij.1_Missense_Mutation_p.A1760V	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1760	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGAATGAAAGCCCTTTGGAAT	0.413000														88			19		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47678608	47678608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:47678608G>A	uc003oyz.1	+	4	457	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	GPR115_uc003oza.1_Missense_Mutation_p.E96K|GPR115_uc003ozb.1_Missense_Mutation_p.E96K	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	96					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CCTTTCTGTGGAAAAACTCTT	0.393000														65			32		0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686626	108686626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:108686626C>T	uc009zuw.3	-	2	305	c.114G>A	c.(112-114)gtG>gtA	p.V38V	CMKLR1_uc001tmw.3_Silent_p.V38V|CMKLR1_uc001tmv.3_Silent_p.V36V|CMKLR1_uc009zuv.3_Silent_p.V38V|CMKLR1_uc021rdj.1_Silent_p.V36V	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	38					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AGATCCTGGTCACCCTGGCTT	0.473000														47			20		0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6749241	6749241	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6749241C>T	uc001qpu.1	-	7	1458	c.1410G>A	c.(1408-1410)ggG>ggA	p.G470G	LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Silent_p.G437G	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	470						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TAGGGAAATCCCCATCCTGGA	0.542000														34			9		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178555048	178555048	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178555048G>A	uc003mjw.3	-	16	2631	c.2529C>T	c.(2527-2529)gtC>gtT	p.V843V		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	843	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGTTGTCGTCGACATTCAGTG	0.582000														112			11		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027387	55027387	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:55027387C>T	uc002xxp.2	+	5	1380	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	CASS4_uc002xxq.4_Silent_p.S385S|CASS4_uc010zze.1_Silent_p.S331S|CASS4_uc002xxr.2_Silent_p.S385S|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	385	Ser-rich.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CATGGTTCTCCAGACGGACAA	0.537000														31			11		0	0	1	0	0
IL2	3558	broad.mit.edu	37	4	123374864	123374864	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:123374864C>T	uc003ier.3	-	3	406	c.351_splice	c.e3+1	p.K117_splice		NM_000586	NP_000577	P60568	IL2_HUMAN	Homo sapiens interleukin 2 (IL2), mRNA.	117					T cell differentiation|anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of B cell proliferation|positive regulation of activated T cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		TAATGCCTTACCTTTAGTTCC	0.338000			T	TNFRSF17	intestinal T-cell lymphoma									104			22		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513637	4513637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4513637C>T	uc002mar.1	-	2	293	c.293G>A	c.(292-294)aGc>aAc	p.S98N	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	98	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTCCACCACGCTGGCCACCCC	0.637000														15			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182108	140182108	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140182108C>T	uc003lhf.2	+	0	1326	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.S442S	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	456	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)			CCAGCGTGTCCGTGGAGGTGG	0.652000														133			61		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36322207	36322207	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36322207C>T	uc002oby.3	-	25	3534	c.3378G>A	c.(3376-3378)caG>caA	p.Q1126Q	NPHS1_uc010eem.1_Non-coding_Transcript	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	1126					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGTGGAGCTCTGAGTGTCCC	0.597000														73			29		0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128896701	128896701	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:128896701G>A	uc004eut.1	+	18	1939	c.1695G>A	c.(1693-1695)ggG>ggA	p.G565G		NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	565					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GAGAATTTGGGATCCGTCTCG	0.542000														24			36		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8608525	8608525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:8608525G>A	uc003glm.3	+	5	1142	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.R312Q|CPZ_uc003gln.3_Missense_Mutation_p.R186Q	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	323					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATCTGAACCGAAATTTCCCG	0.647000														53			25		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114223968	114223968	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:114223968G>A	uc003ibe.4	+	22	2621	c.2521G>A	c.(2521-2523)Gag>Aag	p.E841K	ANK2_uc003ibd.4_Missense_Mutation_p.E820K|ANK2_uc003ibf.4_Missense_Mutation_p.E841K|ANK2_uc011cgc.2_Missense_Mutation_p.E50K|ANK2_uc003ibc.2_Missense_Mutation_p.E817K|ANK2_uc011cgb.1_Missense_Mutation_p.E856K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	841					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T840A(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GACGATGACTGAGGTTCTTGA	0.333000														95			31		0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116335236	116335236	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:116335236C>T	uc021pyx.1	-	2	601	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	ABLIM1_uc021pyw.1_Missense_Mutation_p.E168K|ABLIM1_uc021pyy.1_Missense_Mutation_p.E108K|ABLIM1_uc021pyz.1_Missense_Mutation_p.E102K|ABLIM1_uc021pza.1_Missense_Mutation_p.E108K|ABLIM1_uc021pze.1_Missense_Mutation_p.E92K|ABLIM1_uc021pzf.1_Missense_Mutation_p.E102K|ABLIM1_uc021pzd.1_Missense_Mutation_p.E16K	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	168	LIM zinc-binding 2.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	p.E108K(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTCACCACTTCGCCCTCCACG	0.537000														82			27		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124352006	124352006	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124352006G>A	uc001lgk.1	+	19	2501	c.2395G>A	c.(2395-2397)Gat>Aat	p.D799N	DMBT1_uc001lgl.1_Missense_Mutation_p.D789N|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.D799N|DMBT1_uc021qag.1_Missense_Mutation_p.D789N|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.D799N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.D412N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	799	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTTCTGGATGATGTGCGCTG	0.607000														231			25		0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109049587	109049587	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:109049587C>T	uc003dxq.4	-	4	518	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	DPPA4_uc011bho.2_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.E155K	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	155						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						AGGGACGTTTCCCCCTTTTCC	0.458000														97			31		0	0	1	0	0
GSTM5	2949	broad.mit.edu	37	1	110254965	110254965	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110254965C>T	uc001dyn.3	+	0	102	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	GSTM5_uc010ovu.1_5'UTR	NM_000851	NP_000842	P46439	GSTM5_HUMAN	Homo sapiens glutathione S-transferase mu 5 (GSTM5), mRNA.	11	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	p.R11C(2)		NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CTGGGACATCCGTGGGGTAAG	0.637000														221			19		0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55759599	55759599	+	Silent	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55759599C>G	uc010spk.2	+	0	705	c.705C>G	c.(703-705)gcC>gcG	p.A235A		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	235			A -> D (in dbSNP:rs7976416).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GGAAAAAAGCCTTTTCCACTT	0.393000														52			27		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189912956	189912957	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189912956_189912957CC>TT	uc002uqk.3	-	44	3454_3455	c.3179_3180GG>AA	c.(3178-3180)cgg>cAA	p.R1060Q	COL5A2_uc010frx.3_Missense_Mutation_p.R636Q	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1060					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAGCACCATCCCGTCCTGGGGT	0.347000														55			22		0	0	1	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24503662	24503662	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:24503662G>A	uc003nef.3	+	3	637	c.609_splice	c.e3+1	p.P203_splice	ALDH5A1_uc003neg.3_Splice_Site_p.P203_splice	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	203					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CATCACCCCGGTAGGTGACAG	0.562000														40			17		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42695102	42695102	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:42695102C>T	uc021xxv.1	+	4	508	c.371C>T	c.(370-372)tCg>tTg	p.S124L	GHR_uc003jmt.3_Missense_Mutation_p.S117L|GHR_uc003jmu.3_Missense_Mutation_p.S117L|GHR_uc003jmv.2_Missense_Mutation_p.S117L|GHR_uc021xxw.1_Missense_Mutation_p.S117L|GHR_uc021xxx.1_Missense_Mutation_p.S117L|GHR_uc021xxy.1_Missense_Mutation_p.S117L|GHR_uc021xxz.1_Missense_Mutation_p.S117L|GHR_uc021xya.1_Missense_Mutation_p.S117L|GHR_uc021xyb.1_Missense_Mutation_p.S117L|GHR_uc021xyc.1_Missense_Mutation_p.S117L|GHR_uc011cpq.2_5'UTR|GHR_uc021xyd.1_Missense_Mutation_p.S95L	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	117					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTTAATTCATCGTTTACCTCC	0.378000														38			15		0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12184860	12184860	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12184860C>T	uc002mtb.2	+	1	161	c.18C>T	c.(16-18)ttC>ttT	p.F6F	ZNF844_uc010dym.1_5'UTR	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	6	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TGGTGGCTTTCGAGGATGTGG	0.498000														98			51		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4928848	4928848	+	Silent	SNP	G	A	A	rs146129201		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4928848G>A	uc010qyq.2	+	0	249	c.249G>A	c.(247-249)agG>agA	p.R83R		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	83					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)		CCATGTTGAGGGTCTTCTTGT	0.468000														125			35		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33632886	33632886	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33632886C>T	uc021ywr.1	+	12	1529	c.1305C>T	c.(1303-1305)ccC>ccT	p.P435P		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	435					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGTCAGTGCCCGTGTCTGAGA	0.612000														123			25		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169780299	169780299	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169780299C>T	uc002ueo.1	-	27	3925	c.3799G>A	c.(3799-3801)Ggt>Agt	p.G1267S	ABCB11_uc010zda.1_Missense_Mutation_p.G685S|ABCB11_uc010zdb.1_Missense_Mutation_p.G743S	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1267	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CAGGTCCGACCCTCTCTGGCT	0.527000														37			10		0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102824912	102824912	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102824912C>T	uc001phl.3	-	3	639	c.610G>A	c.(610-612)Gat>Aat	p.D204N		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	204					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		CAGGTTTCATCATCATCAAAA	0.408000														53			7		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69000001	69000001	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:69000001G>A	uc003xxv.1	+	18	2097	c.2070G>A	c.(2068-2070)caG>caA	p.Q690Q	PREX2_uc003xxu.1_Silent_p.Q690Q|PREX2_uc011lez.1_Silent_p.Q625Q	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	690	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTGGCTTCCAGATCCGGGGAT	0.443000														148			40		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111981908	111981908	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:111981908G>A	uc003dyu.3	-	9	1282	c.1060C>T	c.(1060-1062)Cga>Tga	p.R354*	SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Nonsense_Mutation_p.R306*	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	354					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TGACCAACTCGAGACAAAACA	0.373000														94			38		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8486289	8486289	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:8486289C>T	uc001mgi.1	-	2	1339	c.420G>A	c.(418-420)acG>acA	p.T140T	STK33_uc001mgj.1_Silent_p.T140T|STK33_uc001mgk.1_Silent_p.T140T|STK33_uc010rbn.1_Silent_p.T99T|STK33_uc001mgl.3_5'UTR|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	140	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	p.T140M(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTGCCCACTTCGTTTCTGTTT	0.413000														84			51		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390632	48390632	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48390632C>T	uc001jez.3	-	0	360	c.246G>A	c.(244-246)ctG>ctA	p.L82L		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	82	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GAGGATCGTTCAGGGAGCTCT	0.612000														59			31		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123759877	123759877	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:123759877G>A	uc004bkv.3	-	20	2768	c.2738C>T	c.(2737-2739)tCa>tTa	p.S913L		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	913					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AGTCTCCAGTGAAAAATTGAT	0.393000														71			14		0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95927254	95927254	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:95927254G>A	uc001teg.3	-	1	923	c.779C>T	c.(778-780)tCc>tTc	p.S260F	USP44_uc001teh.3_Missense_Mutation_p.S260F|USP44_uc009zte.3_Missense_Mutation_p.S257F	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	260					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TTTAACTGAGGAGTCACTGAC	0.393000														98			23		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324936	31324936	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:31324936G>A	uc010dmg.1	+	11	5179	c.5124G>A	c.(5122-5124)atG>atA	p.M1708I	ASXL3_uc002kxq.2_Missense_Mutation_p.M1415I	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1708			M -> V (in dbSNP:rs7232237).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CACAGAACATGAAAGCTTCCA	0.552000														69			30		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999275	27999275	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:27999275G>A	uc004dbx.1	-	0	292	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	59										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CATCGTTCAGGAAACCACCAT	0.507000														26			25		0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149627351	149627351	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149627351G>A	uc003lru.2	-	11	1142	c.927C>T	c.(925-927)gcC>gcT	p.A309A	CAMK2A_uc003lrt.2_Silent_p.A309A|CAMK2A_uc010jhe.2_Silent_p.A289A	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	309					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTTCCTGGTGGCCAGCATCG	0.617000														12			4		0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62744636	62744636	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62744636C>T	uc001nwk.3	-	8	1918	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	SLC22A6_uc001nwl.3_Intron|SLC22A6_uc001nwj.3_Intron|SLC22A6_uc001nwm.3_Missense_Mutation_p.E485K	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	529					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						atccctgcttctttctgagTG	0.607000														173			19		0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72540779	72540779	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72540779G>A	uc002jky.1	-	1	730	c.369C>T	c.(367-369)ccC>ccT	p.P123P		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	123	Ig-like V-type.|Pro-rich.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CCTCGACAATGGGATCATGAA	0.577000														53			15		0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75651681	75651681	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:75651681G>A	uc002bah.3	-	16	2064	c.2047C>T	c.(2047-2049)Cgt>Tgt	p.R683C	MAN2C1_uc010bkk.3_Silent_p.F579F|MAN2C1_uc002baf.3_Silent_p.F678F|MAN2C1_uc002bag.3_Silent_p.F678F			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	664					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTTGCACTACGAACACAGGCT	0.622000														60			15		0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43579608	43579608	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43579608C>T	uc001zrf.1	-	5	740	c.735G>A	c.(733-735)gaG>gaA	p.E245E		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	245					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TGGAGTAGTCCTCGCCCCAGT	0.602000														38			12		0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123369776	123369776	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:123369776C>T	uc003pzi.1	+	3	1443	c.574C>T	c.(574-576)Cca>Tca	p.P192S		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	192	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GGATAGTTTCCCAGCGCGATT	0.378000														62			23		0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94580218	94580218	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:94580218C>T	uc001tdc.3	+	3	1657	c.1408C>T	c.(1408-1410)Cct>Tct	p.P470S		NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	470					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						AGCCACAGACCCTCACTGCGG	0.443000														42			10		0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110032729	110032729	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110032729C>T	uc001dxr.3	+	7	1230	c.1215C>T	c.(1213-1215)acC>acT	p.T405T	ATXN7L2_uc001dxs.3_Silent_p.T32T	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	405										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATTATGCAACCCGGCCCCCAC	0.662000														65			22		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54603833	54603833	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:54603833G>A	uc003dhf.3	+	6	736	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E136K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_5'UTR	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	230						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GATTAAATGGGAACCAGATGA	0.393000														13			6		0	0	1	0	0
FAM82A1	151393	broad.mit.edu	37	2	38178625	38178625	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:38178625C>T	uc002rqn.2	+	1	393	c.267C>T	c.(265-267)tcC>tcT	p.S89S	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						GAAATGCTTCCCCTTACTGGC	0.363000														106			43		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10992758	10992758	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:10992758G>A	uc003jfa.1	-	18	3261	c.3116C>T	c.(3115-3117)tCg>tTg	p.S1039L	CTNND2_uc010itt.2_Missense_Mutation_p.S948L|CTNND2_uc011cmy.1_Missense_Mutation_p.S702L|CTNND2_uc011cmz.1_Missense_Mutation_p.S606L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.S631L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1039					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTTGAAGACGAGGCTACAAA	0.542000														129			37		0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42780032	42780032	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:42780032C>T	uc002yzf.1	+	13	2124	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C	MX2_uc002yzg.1_Missense_Mutation_p.R397C|MX2_uc010gop.1_Missense_Mutation_p.R156C	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	674	GED.				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GGAAAAAAATCGCTATTCCTG	0.468000														45			54		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133973	22133973	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22133973G>A	uc010tmd.2	+	0	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTCTCTTCGAAAACACTCA	0.502000														60			30		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5485338	5485338	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:5485338C>T	uc002gci.3	-	2	1048	c.493G>A	c.(493-495)Gac>Aac	p.D165N	NLRP1_uc002gcg.1_Missense_Mutation_p.D165N|NLRP1_uc002gch.4_Missense_Mutation_p.D165N|NLRP1_uc002gck.3_Missense_Mutation_p.D165N|NLRP1_uc002gcj.3_Missense_Mutation_p.D165N|NLRP1_uc002gcl.3_Missense_Mutation_p.D165N|NLRP1_uc010clh.3_Missense_Mutation_p.D165N	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	165					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GACTCATGGTCTGGGGAGCTT	0.522000														18			8		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94112962	94112962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94112962C>T	uc001ybv.1	+	33	5788	c.5705C>T	c.(5704-5706)tCc>tTc	p.S1902F	UNC79_uc001ybs.1_Missense_Mutation_p.S1880F	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2057						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						AGATTGGCATCCAGTACTACC	0.393000														44			19		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49211924	49211924	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:49211924C>T	uc010zyt.2	-	15	2283	c.2032G>A	c.(2032-2034)Gca>Aca	p.A678T	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.A674T	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	674								p.E678*(1)		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						ATGGATGTTGCCTTGCCGACC	0.552000														103			43		0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62748477	62748477	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62748477G>A	uc001nwk.3	-	5	1350	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	SLC22A6_uc001nwl.3_Silent_p.F339F|SLC22A6_uc001nwj.3_Silent_p.F339F|SLC22A6_uc001nwm.3_Silent_p.F339F	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	339					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGAGGCAGAGGAAGAGGTGGC	0.617000														50			21		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208133	140208133	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140208133C>T	uc003lho.2	+	0	484	c.457C>T	c.(457-459)Cca>Tca	p.P153S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.P153S|PCDHAC2_uc011dab.2_Missense_Mutation_p.P153S	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	168	Cadherin 2.				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)			TTCTGTGTTTCCACTGGAGGG	0.483000														134			38		0	0	1	0	0
ITPA	3704	broad.mit.edu	37	20	3202495	3202495	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3202495C>T	uc002wid.3	+	6	562	c.420C>T	c.(418-420)atC>atT	p.I140I	ITPA_uc002wie.3_Silent_p.I123I|ITPA_uc002wif.3_Non-coding_Transcript	NM_033453	NP_258412	Q9BY32	ITPA_HUMAN	Homo sapiens inosine triphosphatase (nucleoside triphosphate pyrophosphatase) (ITPA), transcript variant 1, mRNA.	140					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						AGGGCCGGATCGTGGCACCCA	0.592000														23			16		0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71705447	71705447	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:71705447G>A	uc001jql.3	+	35	2492	c.1956G>A	c.(1954-1956)ggG>ggA	p.G652G	COL13A1_uc021prz.1_Silent_p.G603G|COL13A1_uc021psa.1_Silent_p.G580G|COL13A1_uc021psb.1_Silent_p.G574G|COL13A1_uc001jqk.2_Silent_p.G630G|COL13A1_uc021psc.1_Silent_p.G621G|COL13A1_uc021psd.1_Silent_p.G603G|COL13A1_uc010qjf.2_Silent_p.G580G|COL13A1_uc021pse.1_Silent_p.G574G|COL13A1_uc021psf.1_Silent_p.G652G|COL13A1_uc021psg.1_Silent_p.G630G|COL13A1_uc021psh.1_Silent_p.G621G	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	652	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GAGACCCTGGGATGACAGGAC	0.527000														18			7		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103897786	103897786	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:103897786C>T	uc001kum.3	+	1	372	c.333C>T	c.(331-333)agC>agT	p.S111S	PPRC1_uc001kun.3_Missense_Mutation_p.A25V|PPRC1_uc010qqj.2_Silent_p.S111S|PPRC1_uc009xxa.3_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATTTTGGGAGCCTTGGAGAGG	0.527000														32			18		0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153913883	153913883	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153913883G>A	uc001fdd.1	-	6	1490	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	363	DENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTGGGGAAGGGAAGGGAACGT	0.592000														29			10		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43501528	43501528	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43501528C>T	uc001zrb.4	-	5	1166	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	EPB42_uc001zqz.4_5'UTR|EPB42_uc001zra.4_Missense_Mutation_p.R259Q|EPB42_uc010udm.2_Missense_Mutation_p.R181Q	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	259					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AGGTCGGCCTCGGCCGGTGAG	0.672000														57			6		0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140630507	140630507	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:140630507G>A	uc003yvf.1	-	1	1183	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S	KCNK9_uc003yvg.1_Silent_p.S373S|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	373						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			ACACCTAAACGGACTTCCGGC	0.433000														162			30		0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114090533	114090533	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:114090533A>G	uc011lwp.2	-	0	181	c.181T>C	c.(181-183)Tta>Cta	p.L61L		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CCAAGGAATAAGTACATGGGG	0.413000														86			21		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509295	71509295	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71509295G>A	uc011caw.1	+	8	2433	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	718					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TTATTACAGTGAATTTTACCC	0.388000														92			47		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132471171	132471171	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:132471171C>T	uc001ujn.3	+	5	2194	c.2042C>T	c.(2041-2043)tCc>tTc	p.S681F	EP400_uc021rgq.1_Missense_Mutation_p.S680F|EP400_uc001ujm.3_Missense_Mutation_p.S681F|EP400_uc001ujj.2_Missense_Mutation_p.S644F|EP400_uc001ujk.3_Missense_Mutation_p.S717F	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	717					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCAGGACCCTCCCCTGCTCGA	0.652000														55			41		0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15826536	15826536	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:15826536C>T	uc003gol.1	+	2	503	c.396C>T	c.(394-396)gcC>gcT	p.A132A	CD38_uc021xmk.1_Intron	NM_001775	NP_001766	P28907	CD38_HUMAN	Homo sapiens CD38 molecule (CD38), mRNA.	132					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	NAD+ nucleosidase activity|binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						AAGATCTGGCCCATCAGTTCA	0.418000														76			18		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15290705	15290705	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15290705G>A	uc001iob.3	-	4	694	c.687C>T	c.(685-687)ccC>ccT	p.P229P		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	229						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCGTGGCCAGGGGCACAGTGA	0.602000														83			26		0	0	1	0	0
PANX1	24145	broad.mit.edu	37	11	93912938	93912938	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:93912938C>T	uc001per.3	+	3	1101	c.716C>T	c.(715-717)tCa>tTa	p.S239L	PANX1_uc001peq.3_Missense_Mutation_p.S239L	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	Homo sapiens pannexin 1 (PANX1), mRNA.	239					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCCTCTCCTCACTCTCAGAC	0.468000														83			25		0	0	1	0	0
IL15RA	3601	broad.mit.edu	37	10	6008179	6008179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:6008179C>T	uc021pmo.1	-	2	484	c.470G>A	c.(469-471)aGc>aAc	p.S157N	IL15RA_uc010qau.2_Missense_Mutation_p.S71N|IL15RA_uc021pmp.1_Intron|IL15RA_uc001iiv.3_Missense_Mutation_p.S71N|IL15RA_uc001iiw.3_Missense_Mutation_p.S35N|IL15RA_uc001iiy.3_Intron	NM_001243539	NP_001230468	Q13261	I15RA_HUMAN	Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA.	71					cell proliferation	Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CTCCGTCAGGCTGGACGTGCC	0.552000														35			17		0	0	1	0	0
PDLIM2	64236	broad.mit.edu	37	8	22442865	22442865	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:22442865C>T	uc003xby.3	+	5	1282	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S	PDLIM2_uc003xbx.2_Missense_Mutation_p.P415S|PDLIM2_uc003xca.3_Missense_Mutation_p.P165S|PDLIM2_uc003xcc.2_Missense_Mutation_p.P165S	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN	Homo sapiens PDZ and LIM domain 2 (mystique) (PDLIM2), transcript variant 2, mRNA.	165						actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		CCCGGGCCTCCCCGCTGCTGA	0.677000														16			9		0	0	1	0	0
ARHGAP19	84986	broad.mit.edu	37	10	98995059	98995059	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98995059G>A	uc001knb.3	-	8	1245	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L	ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc001kna.3_Missense_Mutation_p.S391L|ARHGAP19_uc009xvj.3_Missense_Mutation_p.S371L|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Missense_Mutation_p.S194L	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA.	400					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CTGGGTCAATGATTGCTTATT	0.418000														109			43		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73879550	73879550	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:73879550C>T	uc011dyh.2	+	11	1954	c.1607C>T	c.(1606-1608)cCa>cTa	p.P536L	KCNQ5_uc011dyi.2_Missense_Mutation_p.P527L|KCNQ5_uc010kat.3_Missense_Mutation_p.P508L|KCNQ5_uc003pgk.3_Missense_Mutation_p.P517L|KCNQ5_uc011dyj.2_Intron|KCNQ5_uc011dyk.2_Missense_Mutation_p.P267L	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	517					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CTCACCCCACCACTTAAAACT	0.403000														41			6		0	0	1	0	0
PITX1	5307	broad.mit.edu	37	5	134364788	134364788	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:134364788G>A	uc010jea.3	-	2	1019	c.626C>T	c.(625-627)tCg>tTg	p.S209L		NM_002653	NP_002644	P78337	PITX1_HUMAN	Homo sapiens paired-like homeodomain 1 (PITX1), mRNA.	209	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GGACTGCGACGACAGCGGGCT	0.652000														80			16		0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50222931	50222931	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:50222931G>A	uc003cyj.3	+	13	1710	c.1512G>A	c.(1510-1512)gaG>gaA	p.E504E	SEMA3F_uc003cyk.3_Silent_p.E473E	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	504	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		AGGAGTTGGAGGAGCTCATGC	0.647000														23			8		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284502	152284502	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152284502C>T	uc001ezu.1	-	2	2896	c.2860G>A	c.(2860-2862)Gga>Aga	p.G954R	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	954	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGAATGTCCCTCACTGTCA	0.572000									Ichthyosis					376			157		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52901800	52901800	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:52901800G>A	uc002lga.3	-	16	1831	c.1771C>T	c.(1771-1773)Cca>Tca	p.P591S	TCF4_uc021ukg.1_Missense_Mutation_p.P329S|TCF4_uc021ukh.1_Missense_Mutation_p.P329S|TCF4_uc002lfw.4_Missense_Mutation_p.P329S|TCF4_uc010xdu.1_Missense_Mutation_p.P359S|TCF4_uc010xdv.1_Missense_Mutation_p.P359S|TCF4_uc021uki.1_Missense_Mutation_p.P418S|TCF4_uc002lfx.2_Missense_Mutation_p.P418S|TCF4_uc010xdw.1_Missense_Mutation_p.P359S|TCF4_uc002lfy.2_Missense_Mutation_p.P447S|TCF4_uc010xdx.1_Missense_Mutation_p.P465S|TCF4_uc021ukj.1_Missense_Mutation_p.P429S|TCF4_uc021ukk.1_Missense_Mutation_p.P429S|TCF4_uc021ukl.1_Missense_Mutation_p.P486S|TCF4_uc002lfz.2_Missense_Mutation_p.P489S|TCF4_uc010dph.1_Missense_Mutation_p.P489S|TCF4_uc010dpi.3_Missense_Mutation_p.P495S|TCF4_uc010xdy.1_Missense_Mutation_p.P465S	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	489	Helix-loop-helix motif.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCCTGGGGTGGGTTCAGGTCA	0.562000											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		81			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070533	9070533	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9070533G>A	uc002mkp.3	-	2	17117	c.16913C>T	c.(16912-16914)tCc>tTc	p.S5638F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5640	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						GGATGTCATGGAAGGTGACAT	0.527000														16			15		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113943683	113943683	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113943683G>A	uc002tjc.3	+	4	1662	c.1479G>A	c.(1477-1479)ttG>ttA	p.L493L	PSD4_uc002tjd.3_Silent_p.L114L|PSD4_uc002tje.3_Silent_p.L464L|PSD4_uc002tjf.3_Silent_p.L114L	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	493					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTCACTCTTGGAGACGGATG	0.567000														68			26		0	0	1	0	0
NDUFS4	4724	broad.mit.edu	37	5	52978999	52978999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:52978999C>T	uc003jpe.2	+	4	504	c.476C>T	c.(475-477)tCt>tTt	p.S159F		NM_002495	NP_002486	O43181	NDUS4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) (NDUFS4), nuclear gene encoding mitochondrial protein, mRNA.	159					brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3)	10		Lung NSC(810;8.27e-05)|Breast(144;0.0848)			NADH(DB00157)	AAGTCCAAGTCTTATGGTGCA	0.393000														133			30		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877816	130877816	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:130877816C>T	uc010fmh.2	-	2	673	c.273G>A	c.(271-273)atG>atA	p.M91I		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	91						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGAGTGTCTTCATAGCAGAGT	0.617000														340			38		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249533	52249533	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52249533G>A	uc021uyn.1	-	2	861	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	FPR1_uc002pxq.3_Missense_Mutation_p.P239S|FPR1_uc021uyo.1_Missense_Mutation_p.P239S	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	239					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)	ACCCGTAAGGGACGACTGGAC	0.507000														48			19		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255006	15255006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15255006C>T	uc001iob.3	-	7	2588	c.2581G>A	c.(2581-2583)Gaa>Aaa	p.E861K		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	861						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCATCGTCTTCCTCTTCCTCG	0.587000														172			64		0	0	1	0	0
GALC	2581	broad.mit.edu	37	14	88414169	88414169	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:88414169G>A	uc001xvt.3	-	12	1499	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Silent_p.F441F|GALC_uc010tvx.2_Silent_p.F438F|GALC_uc010tvz.1_Silent_p.F408F	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	464					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGTGAGTGTGAACAGCTCAT	0.488000														73			23		0	0	1	0	0
CDK1	983	broad.mit.edu	37	10	62552004	62552004	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:62552004C>T	uc001jld.3	+	6	894	c.752C>T	c.(751-753)tCc>tTc	p.S251F	CDK1_uc001jlg.3_Missense_Mutation_p.S194F|CDK1_uc001jle.3_Non-coding_Transcript	NM_001786	NP_001777	P06493	CDK1_HUMAN	Homo sapiens cyclin-dependent kinase 1 (CDK1), transcript variant 1, mRNA.	251	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|regulation of transcription involved in G1/S phase of mitotic cell cycle|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|midbody|nucleoplasm|spindle microtubule	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity			ovary(1)	1						AGCCTAGCATCCCATGTCAAA	0.403000														53			27		0	0	1	0	0
RAD51AP1	10635	broad.mit.edu	37	12	4662197	4662198	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4662197_4662198AC>TT	uc001qmw.3	+	7	812_813	c.656_657AC>TT	c.(655-657)gac>gTT	p.D219V	RAD51AP1_uc001qmu.3_Missense_Mutation_p.D202V|RAD51AP1_uc010sep.2_Missense_Mutation_p.D84V|RAD51AP1_uc010seq.2_Missense_Mutation_p.D84V|RAD51AP1_uc009zeg.3_Non-coding_Transcript	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	Homo sapiens RAD51 associated protein 1 (RAD51AP1), transcript variant 1, mRNA.	219					double-strand break repair via homologous recombination		RNA binding|double-stranded DNA binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			GAGGATAATGACGAAGACTTCT	0.317000														37			10		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24509770	24509770	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:24509770G>A	uc003jgr.2	-	6	1667	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	387	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		ACAGATAGGAGGACCTACTAA	0.393000										HNSCC(23;0.051)				53			27		0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14765924	14765924	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:14765924C>T	uc002mzi.4	-	5	595	c.447G>A	c.(445-447)tgG>tgA	p.W149*	EMR3_uc010dzp.3_Nonsense_Mutation_p.W97*|EMR3_uc010xnv.2_Intron	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	149					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTTCTGTTCTCCATAAAGTCT	0.368000														101			14		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604068	54604068	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:54604068G>A	uc003dhf.3	+	7	873	c.825G>A	c.(823-825)gcG>gcA	p.A275A	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.A181A|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.A9A	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	275	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGACTATCGCGAAGCAAACAG	0.473000														108			51		0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39969292	39969292	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39969292C>T	uc002hxv.2	+	0	331	c.6C>T	c.(4-6)ttC>ttT	p.F2F	LEPREL4_uc002hxt.3_5'Flank|LEPREL4_uc002hxu.3_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	2					protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GCACCATGTTCCCCGCGGGCC	0.731000														14			8		0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108475956	108475956	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108475956G>A	uc003dxh.2	-	0	175	c.77C>T	c.(76-78)tCc>tTc	p.S26F		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	26					cell proliferation	extracellular region	hormone activity	p.C25C(1)		endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GGAGTCTAAGGAACACTGAGT	0.532000														21			12		0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113237474	113237474	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:113237474C>T	uc001eck.3	+	9	1846	c.1576C>T	c.(1576-1578)Cca>Tca	p.P526S	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Missense_Mutation_p.P526S|MOV10_uc001ecm.3_Missense_Mutation_p.P466S|MOV10_uc009wgj.1_Missense_Mutation_p.P466S	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	526					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding	p.P526L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CTTTGGGCCTCCAGGCACCGG	0.597000														65			5		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229826	39229826	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:39229826C>T	uc003cjk.2	-	1	1340	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	XIRP1_uc003cji.3_Missense_Mutation_p.E371K|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.E371K	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	371							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)		ACCACTTCCTCCTTGGGTGGG	0.582000														177			72		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106285	55106285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55106285G>A	uc002qgh.1	+	3	408	c.226G>A	c.(226-228)Gag>Aag	p.E76K	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.E76K	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	76	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.E76K(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GATCCCACAGGAGATTGTGAA	0.557000														106			47		0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77816807	77816807	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77816807G>A	uc003hki.3	-	0	2196	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	732																	GATAGACAGGGAAAATGGGCT	0.502000														229			105		0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138687872	138687872	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:138687872C>T	uc011mwn.1	-	16	1998	c.1992_splice	c.e16+1	p.L664_splice	MCF2_uc004fav.3_Splice_Site_p.L535_splice|MCF2_uc004fau.3_Splice_Site_p.L519_splice|MCF2_uc010nsh.2_Splice_Site_p.L519_splice|MCF2_uc011mwm.2_Splice_Site_p.L480_splice|MCF2_uc011mwl.2_Splice_Site_p.L496_splice|MCF2_uc011mwo.1_Splice_Site_p.L595_splice|MCF2_uc004faw.2_Splice_Site_p.L579_splice	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	519	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)					AGTCGCTTACCAACAAAACAG	0.363000														63			83		0	0	1	0	0
DAND5	199699	broad.mit.edu	37	19	13084385	13084385	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:13084385C>T	uc002mwc.1	+	1	658	c.507C>T	c.(505-507)tcC>tcT	p.S169S	DAND5_uc010dyz.1_3'UTR	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	Homo sapiens DAN domain family, member 5 (DAND5), mRNA.	169	CTCK.					extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			GCTCAGCCTCCCGTCGACGGG	0.612000														84			37		0	0	1	0	0
ARGLU1	55082	broad.mit.edu	37	13	107220265	107220265	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:107220265C>A	uc001vqk.4	-	0	250	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN	Homo sapiens arginine and glutamate rich 1 (ARGLU1), mRNA.	1										large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GAGACCGGCCCATCCTTCCGG	0.697000														34			10		0.000978159	0.000979194	1	1	0
C2orf42	54980	broad.mit.edu	37	2	70402845	70402845	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:70402845G>A	uc002sgh.3	-	4	1327	c.999C>T	c.(997-999)ggC>ggT	p.G333G		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	333										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						GCTTTTTCAGGCCACTTTTCC	0.433000														254			96		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167045758	167045758	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:167045758C>T	uc011bpc.2	-	10	1171	c.834G>A	c.(832-834)aaG>aaA	p.K278K	ZBBX_uc003feq.3_Silent_p.K249K|ZBBX_uc003fep.3_Silent_p.K278K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	278						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATTCTGTTTCTTGTTGTCAT	0.418000														91			50		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32525063	32525063	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:32525063C>T	uc002yow.1	-	19	3729	c.3257G>A	c.(3256-3258)gGa>gAa	p.G1086E	TIAM1_uc011adk.1_Missense_Mutation_p.G1086E|TIAM1_uc011adl.1_Missense_Mutation_p.G1026E	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1086	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	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGTTAAATTTCCAAAAAGCAC	0.333000														46			15		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754377	49754377	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:49754377G>A	uc003ozu.3	-	0	677	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	175					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TCCCACCATGGAACTATGAGC	0.473000														61			44		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767669	57767669	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:57767669C>T	uc002yan.3	+	0	1595	c.1595C>T	c.(1594-1596)cCt>cTt	p.P532L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	532						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACGCAGAAGCCTCTGAGCCCC	0.721000														4			4		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503592	140503592	+	Missense_Mutation	SNP	C	T	T	rs146284769		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140503592C>T	uc003lip.1	+	0	2012	c.2012C>T	c.(2011-2013)cCt>cTt	p.P671L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	671					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTACCTGCCTCTCCCTGAG	0.682000														153			35		0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72300277	72300277	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:72300277C>T	uc010rrc.2	-	11	1127	c.881G>A	c.(880-882)gGa>gAa	p.G294E	PDE2A_uc001oso.3_Missense_Mutation_p.G273E|PDE2A_uc010rra.2_Missense_Mutation_p.G287E|PDE2A_uc001osn.3_Intron|PDE2A_uc010rrb.2_Missense_Mutation_p.G285E|PDE2A_uc010rrd.2_Missense_Mutation_p.G179E	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	294	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GCCCAGGCATCCTGTCAACTA	0.577000														17			6		0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35802909	35802909	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35802909G>A	uc002nyy.2	+	9	1903	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	MAG_uc002nyx.2_Missense_Mutation_p.E569K|MAG_uc010eds.2_Missense_Mutation_p.E544K|MAG_uc002nyz.2_Missense_Mutation_p.E569K	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	569					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGGGGCACCAGAGAAGTACGA	0.637000														19			3		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128990073	128990073	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:128990073G>A	uc003kvb.1	+	13	2233	c.2233G>A	c.(2233-2235)Gga>Aga	p.G745R	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.	745	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G745R(2)|p.D744Y(1)		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)		AGTGATGGATGGAACTTCTTG	0.353000														95			13		0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78466040	78466040	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:78466040C>T	uc002bdh.3	-	12	2190	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K	ACSBG1_uc010umx.2_Missense_Mutation_p.E420K|ACSBG1_uc010umw.2_Missense_Mutation_p.E658K	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	662					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						ATCCCCTCTTCGATGGCCTGG	0.582000														110			11		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180041160	180041160	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:180041160C>T	uc003mlz.4	-	23	3318	c.3239G>A	c.(3238-3240)tGg>tAg	p.W1080*	FLT4_uc003mma.4_Nonsense_Mutation_p.W1080*	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1080	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGGGGCCATCCACTTCAGGGG	0.617000														81			32		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152507129	152507129	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152507129C>T	uc021vrb.1	-	50	7215	c.7186G>A	c.(7186-7188)Gat>Aat	p.D2396N	NEB_uc002txu.3_Missense_Mutation_p.D2396N|NEB_uc021vrc.1_Missense_Mutation_p.D2396N|NEB_uc010fnx.3_Missense_Mutation_p.D2396N|NEB_uc021vrd.1_Missense_Mutation_p.D2396N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2396					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCACAACATCGTTCTGATCA	0.388000														172			67		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17743712	17743712	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17743712C>T	uc021uqk.1	-	27	3346	c.3304G>A	c.(3304-3306)Gac>Aac	p.D1102N		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1103	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGATGCTTGTCGTGCTCTGGC	0.537000														38			17		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976471	38976471	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38976471C>T	uc002oit.3	+	33	5306	c.5176C>T	c.(5176-5178)Cgc>Tgc	p.R1726C	RYR1_uc002oiu.3_Missense_Mutation_p.R1726C	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1726	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S1725I(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGCCGCAGCCGCCGCTCCAT	0.647000														69			33		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16894480	16894480	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16894480C>T	uc009vos.1	-	23	3548	c.2660G>A	c.(2659-2661)gGt>gAt	p.G887D	NBPF1_uc009vot.1_Missense_Mutation_p.G345D|NBPF1_uc001ayz.1_Missense_Mutation_p.G345D|NBPF1_uc010oce.1_Missense_Mutation_p.G616D	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	887	NBPF 4.					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)		TCACCTGGGACCTGTTGCCTC	0.438000														440			38		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39879646	39879646	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:39879646G>A	uc001zkh.3	+	7	1398	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	THBS1_uc010bbi.3_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	407	TSP type-1 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CCGCTCCTGCGATAGCCTCAA	0.587000														30			13		0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22310748	22310748	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22310748C>T	uc001bfk.3	+	5	681	c.566C>T	c.(565-567)tCc>tTc	p.S189F	CELA3B_uc009vqf.3_Intron	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	189	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GAACACTGCTCCAGGTGGAAC	0.607000														61			33		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2129298	2129298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2129298C>T	uc002con.3	+	27	3259	c.3153C>T	c.(3151-3153)ctC>ctT	p.L1051L	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.L1051L|TSC2_uc002coo.3_Silent_p.L1007L|TSC2_uc010uvv.2_Silent_p.L971L|TSC2_uc010uvw.2_Silent_p.L959L|TSC2_uc002cop.3_Silent_p.L807L	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1051					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCGAGTTCCTCCTAGCGGGTG	0.637000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					45			28		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246224	56246224	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:56246224G>A	uc002lhj.4	-	3	1998	c.1784C>T	c.(1783-1785)tCc>tTc	p.S595F		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	595							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATCAGCATGGGAACTCCGACC	0.488000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			26		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124268560	124268560	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124268560G>A	uc001uft.4	+	7	908	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	295	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGCGCTGCATGAACAAACAAA	0.443000														52			23		0	0	1	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80583494	80583494	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:80583494G>A	uc002ffo.3	+	2	313	c.193G>A	c.(193-195)Gac>Aac	p.D65N	DYNLRB2_uc002ffp.3_Non-coding_Transcript|DYNLRB2_uc002ffq.3_Non-coding_Transcript	NM_130897	NP_570967	Q8TF09	DLRB2_HUMAN	Homo sapiens dynein, light chain, roadblock-type 2 (DYNLRB2), mRNA.	65					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity	p.N64N(1)		large_intestine(1)|lung(4)|prostate(1)	6						TCCTCAGAACGACCTGACTTT	0.383000														51			20		0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97143773	97143773	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:97143773G>A	uc001kkp.3	-	14	1552	c.1507C>T	c.(1507-1509)Cgc>Tgc	p.R503C	SORBS1_uc001kkk.3_Missense_Mutation_p.R81C|SORBS1_uc001kkl.3_Missense_Mutation_p.R105C|SORBS1_uc001kkn.3_Missense_Mutation_p.R290C|SORBS1_uc001kkm.3_Missense_Mutation_p.R359C|SORBS1_uc001kko.3_Missense_Mutation_p.R525C|SORBS1_uc001kkq.3_Missense_Mutation_p.R388C|SORBS1_uc001kkr.3_Missense_Mutation_p.R293C|SORBS1_uc001kks.3_Missense_Mutation_p.R293C|SORBS1_uc001kkt.3_Non-coding_Transcript|SORBS1_uc001kku.3_Missense_Mutation_p.R334C|SORBS1_uc001kkv.3_Missense_Mutation_p.R425C|SORBS1_uc001kkw.3_Missense_Mutation_p.R457C|SORBS1_uc010qoe.2_Missense_Mutation_p.R302C|SORBS1_uc010qof.1_Missense_Mutation_p.R655C	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	503					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAGGAAGAGCGGGCTGGGAGG	0.517000														87			33		0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899665	233899666	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233899665_233899666CC>TT	uc010zmn.2	+	1	1041_1042	c.1041_1042CC>TT	c.(1039-1044)tccccc>tcTTcc	p.P348S		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	348							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CTGATGGGTCCCCCTTGTTTGG	0.589000														177			78		0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234750088	234750088	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234750088G>A	uc002vvg.3	-	7	1404	c.1338C>T	c.(1336-1338)tgC>tgT	p.C446C	HJURP_uc010znd.2_Silent_p.C385C|HJURP_uc010zne.2_Silent_p.C354C	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	446					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TGGGACTCAGGCAATATTCCC	0.547000														112			33		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577424	179577424	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179577424C>T	uc021vsy.1	-	91	23821	c.23596_splice	c.e91+1	p.A7866_splice	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Splice_Site_p.A4527_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8793	Ig-like 61.						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)			TCTGACAAACCTTTTATGTAG	0.338000														82			32		0	0	1	0	0
GALNTL1	57452	broad.mit.edu	37	14	69818888	69818888	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:69818888G>A	uc001xlb.2	+	15	2006	c.1679_splice	c.e15+1		GALNTL1_uc010aqu.2_3'UTR	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.							Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		ACACATGACGGTAGCCCTGGG	0.612000														18			6		0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44198553	44198553	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:44198553C>T	uc003oww.1	+	8	1122	c.930C>T	c.(928-930)ttC>ttT	p.F310F	SLC29A1_uc003owu.1_Silent_p.F231F|SLC29A1_uc003owv.1_Silent_p.F231F|SLC29A1_uc003owx.1_Silent_p.F231F|SLC29A1_uc003owy.1_Silent_p.F231F|SLC29A1_uc003owz.1_Silent_p.F231F	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	231					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	p.A309A(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	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)		Troglitazone(DB00197)	GATAGGAATTCTACCGCTACT	0.547000														82			29		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191385	152191385	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152191385C>T	uc001ezt.1	-	2	2796	c.2720G>A	c.(2719-2721)gGc>gAc	p.G907D		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	907					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCATGTCGGCCATAGCTGGG	0.652000														191			72		0	0	1	0	0
SCN2B	6327	broad.mit.edu	37	11	118037788	118037788	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118037788C>T	uc001psf.2	-	3	653	c.462G>A	c.(460-462)cgG>cgA	p.R154R		NM_004588	NP_004579	O60939	SCN2B_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, beta (SCN2B), mRNA.	154	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		CCGTGGAGTCCCGCTCAGGGG	0.617000														48			21		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49001530	49001530	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49001530C>T	uc002pjk.3	-	11	2883	c.2883G>A	c.(2881-2883)ggG>ggA	p.G961G		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTCTCTGGTCCCCGTTCTCCA	0.642000														52			25		0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288272	132288272	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:132288272C>T	uc002tta.3	+	2	468	c.416C>T	c.(415-417)tCc>tTc	p.S139F	CCDC74A_uc002ttb.3_Intron|CCDC74A_uc021vpq.1_Missense_Mutation_p.S139F|CCDC74A_uc021vpr.1_Missense_Mutation_p.S181F	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	139										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AAGGAGGGCTCCTCACGGACA	0.662000														92			21		0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132400719	132400719	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:132400719C>T	uc003kyj.3	+	1	436	c.155C>T	c.(154-156)gCt>gTt	p.A52V		NM_002154	NP_002145	P34932	HSP74_HUMAN	Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA.	52					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAGCAGCAGCTAAAAGCCAG	0.348000														108			12		0	0	1	0	0
TRAPPC3	27095	broad.mit.edu	37	1	36605347	36605347	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:36605347G>A	uc001bzx.3	-	2	302	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W		NM_014408	NP_055223	O43617	TPPC3_HUMAN	Homo sapiens trafficking protein particle complex 3 (TRAPPC3), mRNA.	72						endoplasmic reticulum	guanylate cyclase activity|heme binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				GCAGTTTCCCGAAAGTCATGG	0.488000														43			18		0	0	1	0	0
TMEM48	55706	broad.mit.edu	37	1	54272177	54272177	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:54272177G>A	uc001cvs.3	-	8	1196	c.905C>T	c.(904-906)cCt>cTt	p.P302L	TMEM48_uc010onu.2_Missense_Mutation_p.P262L|TMEM48_uc001cvt.3_Missense_Mutation_p.P179L|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_5'UTR	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	302					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore	p.P302H(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						TGGTTGAACAGGAAACACATG	0.348000														72			21		0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201868737	201868737	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201868737G>A	uc021phl.1	-	1	1652	c.1404C>T	c.(1402-1404)agC>agT	p.S468S	LMOD1_uc021phm.1_Silent_p.S468S|LMOD1_uc010ppu.2_Silent_p.S417S	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	468					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCATGTTGCGGCTGAGCAGAT	0.572000														16			6		0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6440044	6440044	+	Silent	SNP	C	T	T	rs104895272		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6440044C>T	uc001qnu.3	-	5	903	c.600G>A	c.(598-600)gaG>gaA	p.E200E	TNFRSF1A_uc001qnt.3_Silent_p.E92E|TNFRSF1A_uc010sey.2_5'UTR|TNFRSF1A_uc010sez.2_Silent_p.E92E|TNFRSF1A_uc009zek.3_Silent_p.E157E	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	200					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CCTTAACATTCTCAATCTGGG	0.552000														41			13		0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30432457	30432457	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30432457C>T	uc002wwt.1	-	0	964	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	297					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA 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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						ACCCAGGGTTCCTTGTGGTCA	0.652000														31			13		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50661436	50661436	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:50661436C>T	uc001csb.2	+	4	980	c.712C>T	c.(712-714)Cac>Tac	p.H238Y	ELAVL4_uc001cry.3_Missense_Mutation_p.H241Y|ELAVL4_uc001crz.3_Missense_Mutation_p.H238Y|ELAVL4_uc001csa.3_Missense_Mutation_p.H255Y|ELAVL4_uc001csc.3_Missense_Mutation_p.H238Y|ELAVL4_uc009vyu.3_Missense_Mutation_p.H243Y|ELAVL4_uc010omz.2_Missense_Mutation_p.H243Y	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	238					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						AGGTCCACTTCACCACCAGGC	0.597000														83			29		0	0	1	0	0
MMP24	10893	broad.mit.edu	37	20	33842389	33842389	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33842389G>A	uc002xbu.2	+	3	652	c.649G>A	c.(649-651)Gag>Aag	p.E217K	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	217					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.K216K(1)		NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGACCGGAAGGAGGCAGACAT	0.537000														230			63		0	0	1	0	0
AHSP	51327	broad.mit.edu	37	16	31539877	31539877	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31539877G>A	uc002ecj.3	+	2	259	c.174G>A	c.(172-174)ggG>ggA	p.G58G		NM_016633	NP_057717	Q9NZD4	AHSP_HUMAN	Homo sapiens alpha hemoglobin stabilizing protein (AHSP), mRNA.	58					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						AGGTGACAGGGGAGCCCCAAG	0.532000														54			12		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3607626	3607626	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3607626G>A	uc010btn.3	-	6	2478	c.2067C>T	c.(2065-2067)tcC>tcT	p.S689S	NLRC3_uc010bto.1_5'Flank	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	689					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGACCAAGAGGGATCTGGCCA	0.498000														22			6		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42116018	42116018	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42116018C>T	uc001zok.4	+	29	4276	c.3990C>T	c.(3988-3990)ttC>ttT	p.F1330F	MAPKBP1_uc010bci.3_Intron|MAPKBP1_uc010udb.2_Silent_p.F1163F|MAPKBP1_uc001zoj.4_Silent_p.F1324F|MAPKBP1_uc010bcj.3_Silent_p.F831F|MAPKBP1_uc010bck.3_Silent_p.F541F|MAPKBP1_uc010bcl.3_Silent_p.F831F	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	1330										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGCCTGGCTTCCCGGTGGGCC	0.612000														96			49		0	0	1	0	0
RNF14	9604	broad.mit.edu	37	5	141359747	141359747	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:141359747C>A	uc003llz.3	+	5	1142	c.894C>A	c.(892-894)tcC>tcA	p.S298S	RNF14_uc003lly.3_Silent_p.S298S|RNF14_uc003lma.3_Silent_p.S298S|RNF14_uc003lmb.3_Silent_p.S172S|RNF14_uc003lmc.3_Silent_p.S298S|RNF14_uc011dbg.2_Silent_p.S122S|RNF14_uc011dbh.2_Intron|RNF14_uc003lmd.3_Silent_p.S298S	NM_001201365	NP_001188294	Q9UBS8	RNF14_HUMAN	Homo sapiens ring finger protein 14 (RNF14), transcript variant 6, mRNA.	298					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TCCTCCAGTCCTCCTTGGACC	0.542000														185			41		2.24722e-20	2.25996e-20	1	1	0
NPR2	4882	broad.mit.edu	37	9	35801756	35801756	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35801756C>T	uc003zyd.3	+	7	1553	c.1553C>T	c.(1552-1554)tCg>tTg	p.S518L	NPR2_uc010mlb.3_Missense_Mutation_p.S518L	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	518	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTCACACTGTCGCTGGTGAGC	0.542000														95			19		0	0	1	0	0
TSSK4	283629	broad.mit.edu	37	14	24675162	24675162	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24675162A>G	uc001wnh.3	+	0	237	c.33A>G	c.(31-33)ccA>ccG	p.P11P	TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.3_Intron|TSSK4_uc001wnf.3_Intron|TSSK4_uc001wng.3_Silent_p.P11P	NM_001184739	NP_001171668	Q6SA08	TSSK4_HUMAN	Homo sapiens testis-specific serine kinase 4 (TSSK4), transcript variant 1, mRNA.	11					cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		AGGCAGCACCAACCACCACAG	0.522000														64			16		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25280503	25280503	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25280503G>A	uc010aaa.3	+	14	2422	c.2089G>A	c.(2089-2091)Gaa>Aaa	p.E697K	ATP12A_uc001upp.3_Missense_Mutation_p.E691K	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	691					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CATGAGCTCAGAACAGCTGGA	0.562000														56			22		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76449531	76449531	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76449531C>T	uc010dhp.2	-	64	10548	c.10423G>A	c.(10423-10425)Gag>Aag	p.E3475K	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATGGCCTGCTCGATGACATCC	0.607000														42			7		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157772251	157772251	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157772251C>T	uc001frg.3	-	3	636	c.523G>A	c.(523-525)Gag>Aag	p.E175K	FCRL1_uc001frf.3_5'Flank|FCRL1_uc001frh.3_Missense_Mutation_p.E175K|FCRL1_uc001fri.3_Missense_Mutation_p.E175K|FCRL1_uc001frj.3_Intron	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	175	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity	p.E175*(3)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCATCACTCTCCCTCACTGAA	0.488000														72			28		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129207226	129207226	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:129207226G>A	uc003eml.3	+	16	2337	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	IFT122_uc003emm.3_Missense_Mutation_p.E660K|IFT122_uc003emn.3_Missense_Mutation_p.E601K|IFT122_uc003emo.3_Missense_Mutation_p.E549K|IFT122_uc003emp.3_Missense_Mutation_p.E510K|IFT122_uc010htc.3_Missense_Mutation_p.E652K|IFT122_uc011bky.2_Missense_Mutation_p.E451K|IFT122_uc011bla.2_Missense_Mutation_p.E451K|IFT122_uc003emr.3_Missense_Mutation_p.E451K|IFT122_uc010hte.3_Missense_Mutation_p.E40K|IFT122_uc003ems.3_Missense_Mutation_p.E59K|IFT122_uc011bkx.1_Missense_Mutation_p.E500K|IFT122_uc011bkz.1_Non-coding_Transcript|IFT122_uc010htd.1_Missense_Mutation_p.E139K	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	660					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						TTTAGATTTTGAAACAGCAAA	0.517000														58			14		0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15535087	15535087	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15535087G>A	uc002nbc.3	-	6	2677	c.2654C>T	c.(2653-2655)cCa>cTa	p.P885L	WIZ_uc002nba.4_Missense_Mutation_p.P752L|WIZ_uc002nbb.4_Missense_Mutation_p.P711L	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1568						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GACTCGGGGTGGGGGTTGCCG	0.647000														30			10		0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6386953	6386953	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:6386953G>A	uc002gdd.4	-	5	622	c.471C>T	c.(469-471)ttC>ttT	p.F157F	PITPNM3_uc010cln.3_Silent_p.F121F|PITPNM3_uc002gdc.4_5'Flank	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	157					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GCACGGAGCTGAAGGTGTGGA	0.617000														30			16		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033245	82033245	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:82033245C>T	uc002fgu.3	-	2	781	c.653G>A	c.(652-654)aGc>aAc	p.S218N		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	218					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CTCAACCAGGCTCCTGGGGTC	0.557000														141			51		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113508735	113508735	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:113508735G>A	uc003iau.3	-	11	3689	c.3478C>T	c.(3478-3480)Cca>Tca	p.P1160S	C4orf21_uc003iav.3_Non-coding_Transcript	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ACTCTGTTTGGAGTAGCCACG	0.408000														154			87		0	0	1	0	0
DBN1	1627	broad.mit.edu	37	5	176885201	176885201	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176885201T>G	uc003mgx.2	-	12	1922	c.1640A>C	c.(1639-1641)gAc>gCc	p.D547A	DBN1_uc011dga.1_Missense_Mutation_p.D277A|DBN1_uc003mgy.2_Missense_Mutation_p.D545A|DBN1_uc010jkn.1_Missense_Mutation_p.D495A|DBN1_uc003mgz.1_Missense_Mutation_p.D528A	NM_080881	NP_543157	Q16643	DREB_HUMAN	Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.	545					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCTCTGGGTCACAGAAGGT	0.652000														64			10		0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198013	15198013	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15198013T>A	uc010xoe.2	+	0	137	c.137T>A	c.(136-138)aTc>aAc	p.I46N		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						GCCCTCATTATCCTGGCCATC	0.512000														52			28		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31532917	31532917	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31532917G>A	uc003aka.3	-	4	1305	c.1176C>T	c.(1174-1176)ctC>ctT	p.L392L		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	392					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TGCAGTGGAAGAGGGGCTCTT	0.687000														19			6		0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868820	22868820	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22868820G>A	uc002zwe.3	-	1	1388	c.1135C>T	c.(1135-1137)Ctc>Ttc	p.L379F	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.L379F	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TGTTGTAAGAGGACCTGATCT	0.473000														144			9		0	0	1	0	0
POMT2	29954	broad.mit.edu	37	14	77778331	77778331	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:77778331G>A	uc001xti.2	-	1	495	c.294C>T	c.(292-294)aaC>aaT	p.N98N	POMT2_uc010asr.2_Intron	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.	98					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		AAAATGTACGGTTGATATAGT	0.418000														55			8		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21165309	21165309	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:21165309G>A	uc002zsz.4	-	8	1104	c.843C>T	c.(841-843)atC>atT	p.I281I	PI4KA_uc010gsq.2_Silent_p.I367I	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	281					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCTCCTCAACGATCTTCTTCA	0.458000														85			35		0	0	1	0	0
OR4F15	390649	broad.mit.edu	37	15	102358521	102358521	+	Silent	SNP	C	T	T	rs143311907		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:102358521C>T	uc010uts.2	+	0	132	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GAAACCTTGTCATTGTATTCA	0.413000														384			24		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52000608	52000608	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52000608G>A	uc002pwx.1	-	5	1553	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	SIGLEC12_uc002pww.1_Silent_p.F381F|SIGLEC12_uc010eoy.1_Silent_p.F226F	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	499					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCACACAACGAAGATGATGC	0.572000														79			33		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81173324	81173324	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:81173324G>A	uc002bfw.1	+	4	724	c.464G>A	c.(463-465)gGa>gAa	p.G155E	KIAA1199_uc010unn.1_Missense_Mutation_p.G155E	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	155	G8.							p.G155G(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAGTTGCATGGACAGAAAAAG	0.502000														159			39		0	0	1	0	0
BANP	54971	broad.mit.edu	37	16	88066771	88066771	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:88066771C>T	uc002fkr.3	+	8	1317	c.1096C>T	c.(1096-1098)Ccg>Tcg	p.P366S	BANP_uc010vov.2_Missense_Mutation_p.P341S|BANP_uc002fkq.3_Missense_Mutation_p.P335S|BANP_uc002fks.4_Missense_Mutation_p.P335S|BANP_uc002fkp.3_Missense_Mutation_p.P335S|BANP_uc010vow.2_Missense_Mutation_p.P374S|BANP_uc021tml.1_Missense_Mutation_p.P374S|BANP_uc002fko.1_Missense_Mutation_p.P271S	NM_001173543	NP_001167014	Q8N9N5	BANP_HUMAN	Homo sapiens BTG3 associated nuclear protein (BANP), transcript variant 7, mRNA.	366	DNA-binding (By similarity).|Gln-rich.				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		ACAGCCGCAGCCGCAGGCCCT	0.627000														27			7		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827096	96827096	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96827096C>T	uc001kkb.3	-	2	445	c.350G>A	c.(349-351)gGa>gAa	p.G117E	CYP2C8_uc010qoa.2_Missense_Mutation_p.G47E|CYP2C8_uc010qoc.2_Missense_Mutation_p.G15E|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.G31E|CYP2C8_uc021pwl.1_Missense_Mutation_p.G47E|CYP2C8_uc010qod.1_Missense_Mutation_p.G31E	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	117					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCATCTCTTTCCATTGCTGGA	0.488000														77			27		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6941024	6941024	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6941024G>A	uc001qra.1	+	6	1189	c.1155G>A	c.(1153-1155)gaG>gaA	p.E385E	GPR162_uc001qrb.1_Silent_p.E193E	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	472						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						CCCTGGGGGAGAAGAGGCAGC	0.612000														10			7		0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4445806	4445806	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:4445806G>A	uc002fxz.4	-	21	3102	c.3040C>T	c.(3040-3042)Ccc>Tcc	p.P1014S	MYBBP1A_uc002fyb.4_Missense_Mutation_p.P1014S|MYBBP1A_uc002fya.4_5'Flank|MYBBP1A_uc010vsa.2_Missense_Mutation_p.P56S	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	1014					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACCAGGATGGGGAGCAGGCTC	0.637000														40			32		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236208779	236208779	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:236208779C>T	uc001hxo.3	-	2	832	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	NID1_uc009xgd.3_Missense_Mutation_p.E244K	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	244	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCAACTGATTCCCTGTCATTA	0.363000														60			26		0	0	1	0	0
TMEM161A	54929	broad.mit.edu	37	19	19231957	19231957	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19231957G>A	uc002nlg.3	-	9	963	c.933C>T	c.(931-933)ttC>ttT	p.F311F	TMEM161A_uc002nli.3_Silent_p.F208F	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	Homo sapiens transmembrane protein 161A (TMEM161A), mRNA.	311					cellular response to UV|cellular response to oxidative stress|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			GCCCAGAGTCGAAGGCAGAAT	0.697000														21			6		0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962862	69962862	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69962862G>A	uc003heg.4	+	0	670	c.624G>A	c.(622-624)atG>atA	p.M208I	UGT2B7_uc010ihq.3_Missense_Mutation_p.M208I	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	208					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGACTTTCATGGAGAGGGTAA	0.358000														88			27		0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651377	96651377	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:96651377G>A	uc003pop.4	+	2	687	c.346G>A	c.(346-348)Gat>Aat	p.D116N	FUT9_uc021zcw.1_Missense_Mutation_p.D116N	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	116					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CATCAGTTGGGATCTGACAAA	0.463000														30			16		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2110321	2110321	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:2110321C>T	uc003zhc.3	+	23	3459	c.3360C>T	c.(3358-3360)ttC>ttT	p.F1120F	SMARCA2_uc003zhd.3_Silent_p.F1120F|SMARCA2_uc010mha.3_Silent_p.F1053F	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1120	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCCAGTATTTCATTTTCTTGC	0.453000														57			26		0	0	1	0	0
STARD6	147323	broad.mit.edu	37	18	51863599	51863599	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:51863599G>A	uc010xdt.2	-	2	163	c.163C>T	c.(163-165)Cca>Tca	p.P55S		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	55	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GGTGATTCTGGAATTATCCCT	0.313000														64			21		0	0	1	0	0
C15orf43	145645	broad.mit.edu	37	15	45248981	45248981	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45248981G>A	uc001zuk.3	+	1	78	c.64_splice	c.e1+1	p.V22_splice		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.	22										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		CAATTCTGGGGTAGGAAGCTG	0.582000														61			23		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60212997	60212997	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:60212997G>A	uc001xen.1	-	1	653	c.444C>T	c.(442-444)ccC>ccT	p.P148P		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	148					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.P148S(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGGTAAGGAGGGGCCGGGTG	0.488000														52			17		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367521	107367521	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107367521G>A	uc011lvq.2	-	0	388	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GGATATCTCAGAGGGTTGCAG	0.512000														139			9		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066116	23066116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:23066116G>A	uc002wsv.3	-	0	862	c.714C>T	c.(712-714)ttC>ttT	p.F238F		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	238					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCTTGCACAGGAAATAATGAC	0.592000														131			41		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168310314	168310314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:168310314C>T	uc010jjg.3	-	4	861	c.441G>A	c.(439-441)ggG>ggA	p.G147G	SLIT3_uc003mab.3_Silent_p.G147G|SLIT3_uc010jji.2_Silent_p.G147G	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	147					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTCGGGATCCCCTGGATCT	0.468000														46			15		0	0	1	0	0
PCMTD2	55251	broad.mit.edu	37	20	62904588	62904588	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62904588C>T	uc002yil.4	+	5	921	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	PCMTD2_uc002yim.4_Missense_Mutation_p.R214C	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 (PCMTD2), transcript variant 1, mRNA.	241						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGTGGCAGTTCGCAGCCTCCA	0.507000														69			18		0	0	1	0	0
WDR44	54521	broad.mit.edu	37	X	117566802	117566802	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:117566802C>T	uc004eqn.3	+	12	2227	c.1796C>T	c.(1795-1797)cCa>cTa	p.P599L	WDR44_uc004eqo.3_Missense_Mutation_p.P599L|WDR44_uc011mtr.2_Missense_Mutation_p.P574L|WDR44_uc010nqi.3_Missense_Mutation_p.P309L	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	599						Golgi apparatus|cytosol|endosome membrane|perinuclear region of cytoplasm		p.R598P(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						CGGCAACGGCCATTTTGCAAA	0.348000														58			61		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12343364	12343364	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12343364C>T	uc001atv.3	+	20	5346	c.5205C>T	c.(5203-5205)gtC>gtT	p.V1735V	VPS13D_uc001atw.3_Silent_p.V1735V|VPS13D_uc001atx.3_Silent_p.V923V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1735					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTCCTAATGTCTTCCAGTTGT	0.493000														70			20		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102441	22102441	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22102441G>A	uc010tmc.2	-	0	558	c.558C>T	c.(556-558)atC>atT	p.I186I		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D185D(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		ATACTGCGCGGATGTCACAGA	0.547000														120			14		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719313	42719313	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:42719313C>T	uc021xxv.1	+	9	1862	c.1725C>T	c.(1723-1725)acC>acT	p.T575T	GHR_uc003jmt.3_Silent_p.T568T|GHR_uc003jmu.3_Silent_p.T568T|GHR_uc003jmv.2_Silent_p.T568T|GHR_uc021xxw.1_Silent_p.T568T|GHR_uc021xxx.1_Silent_p.T568T|GHR_uc021xxy.1_Silent_p.T568T|GHR_uc021xxz.1_Silent_p.T568T|GHR_uc021xya.1_Silent_p.T568T|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Silent_p.T381T|GHR_uc021xyd.1_Silent_p.T546T	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	568					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTTACATCACCACAGAAAGCC	0.488000														32			9		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76395507	76395507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:76395507G>A	uc021rkq.1	+	13	2737	c.2402G>A	c.(2401-2403)aGa>aAa	p.R801K	LMO7_uc010thv.2_Missense_Mutation_p.R519K|LMO7_uc001vjt.1_Missense_Mutation_p.R467K|LMO7_uc001vjv.3_Missense_Mutation_p.R568K|LMO7_uc010thw.2_Missense_Mutation_p.R418K|LMO7_uc001vjw.1_Missense_Mutation_p.R474K	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	853						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTTGCAAAAAGAGAGGACCGT	0.443000														90			36		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142486068	142486068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:142486068C>T	uc003ywi.2	-	12	1706	c.1625G>A	c.(1624-1626)gGc>gAc	p.G542D	FLJ43860_uc011ljs.1_Intron|FLJ43860_uc010meu.1_Intron	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	542							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGGTCCCCAGCCCTGGTGCGT	0.602000														18			5		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381515	81381515	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:81381515C>T	uc003uhl.3	-	4	711	c.546G>A	c.(544-546)ggG>ggA	p.G182G	HGF_uc003uhm.3_Silent_p.G177G|HGF_uc003uhn.1_Silent_p.G182G|HGF_uc003uho.1_Silent_p.G177G|HGF_uc003uhp.3_Silent_p.G182G	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	182	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCCCTTCTTCCCCTCGAGGAT	0.433000														103			8		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21348460	21348460	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:21348460C>T	uc002zto.3	+	13	1620	c.1517C>T	c.(1516-1518)cCg>cTg	p.P506L	LZTR1_uc002ztn.3_Missense_Mutation_p.P465L|LZTR1_uc011ahy.2_Missense_Mutation_p.P487L|LZTR1_uc010gsr.1_Missense_Mutation_p.P377L	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	506	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGGGCCCGGCCGCCCCTGCTG	0.682000														14			6		0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22855192	22855192	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22855192C>T	uc001yuq.2	+	12	1783	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	TUBGCP5_uc001yur.4_Silent_p.F551F|TUBGCP5_uc010axz.1_Silent_p.F138F	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	551					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TGGTGTCCTTCCTCAAACCTG	0.542000														61			18		0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205132913	205132913	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205132913G>A	uc001hbw.3	-	3	1559	c.1495C>T	c.(1495-1497)Ctg>Ttg	p.L499L	DSTYK_uc001hbx.3_Silent_p.L499L|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	499						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AGGCTCTGCAGACATCGTTCC	0.453000														42			10		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9560897	9560897	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9560897C>T	uc002wnl.2	-	4	1430	c.885G>A	c.(883-885)ccG>ccA	p.P295P	PAK7_uc002wnk.2_Silent_p.P295P|PAK7_uc002wnj.2_Silent_p.P295P|PAK7_uc010gby.1_Silent_p.P295P	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	295	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATGGCATCATCGGTTCCTGGA	0.542000														139			52		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6228308	6228309	+	Missense_Mutation	DNP	CG	TA	TA	rs146996909	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6228308_6228309CG>TA	uc001amb.2	-	1	219_220	c.108_109CG>TA	c.(106-111)ttcgat>ttTAat	p.D37N		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	37					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.F36F(2)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AAAAAGTCATCGAAGGCTTCAA	0.495000														198			77		0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64138976	64138976	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:64138976C>T	uc004dvu.3	-	3	663	c.507G>A	c.(505-507)agG>agA	p.R169R	ZC4H2_uc004dvv.3_Silent_p.R146R|ZC4H2_uc022byd.1_Silent_p.R146R|ZC4H2_uc022byc.1_Silent_p.R146R|ZC4H2_uc011mow.2_Intron|ZC4H2_uc011mov.2_Silent_p.R146R|ZC4H2_uc004dvw.2_3'UTR	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	169							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TATCCTGCTTCCTAGCCACTT	0.597000														16			32		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103124179	103124179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:103124179C>T	uc022ajr.1	-	61	10262	c.10102G>A	c.(10102-10104)Ggg>Agg	p.G3368R	RELN_uc022ajq.1_Missense_Mutation_p.G3368R|RELN_uc010liz.3_Missense_Mutation_p.G3368R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3368					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)		CAGGTGATCCCGTTGTTGACG	0.557000														130			32		0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7262416	7262416	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:7262416G>A	uc009xio.2	-	10	1378	c.1287C>T	c.(1285-1287)tcC>tcT	p.S429S	SFMBT2_uc001ijn.2_Silent_p.S429S|SFMBT2_uc010qay.2_Intron	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	429					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CACTCACAACGGAGGCCACAC	0.517000														216			101		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62941524	62941524	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62941524G>A	uc001daq.3	-	44	5816	c.5782C>T	c.(5782-5784)Cgt>Tgt	p.R1928C	DOCK7_uc001dan.3_Missense_Mutation_p.R1791C|DOCK7_uc001dao.3_Missense_Mutation_p.R1789C|DOCK7_uc001dap.3_Missense_Mutation_p.R1908C|DOCK7_uc001dam.3_Missense_Mutation_p.R1110C|DOCK7_uc010oov.1_Missense_Mutation_p.R669C|DOCK7_uc001dar.1_Missense_Mutation_p.R102C	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1939	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATGAATCGACGAAGATTGTAA	0.403000														121			48		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167141089	167141089	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:167141089C>T	uc010fpl.3	-	11	2189	c.1848G>A	c.(1846-1848)ggG>ggA	p.G616G	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Silent_p.G487G|SCN9A_uc002uds.1_Silent_p.G487G|SCN9A_uc002udt.1_Silent_p.G487G	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	616						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGTGCATTTTCCCGTTCACCG	0.587000														51			20		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169146730	169146730	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169146730G>A	uc003irp.3	-	33	4923	c.4631C>T	c.(4630-4632)tCc>tTc	p.S1544F	DDX60_uc003iro.3_Missense_Mutation_p.S15F	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1544							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)		AGCCAGTTTGGAAACAATTCG	0.333000														57			20		0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101590503	101590503	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:101590503C>T	uc001kqf.2	+	20	2917	c.2778C>T	c.(2776-2778)tcC>tcT	p.S926S		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	926						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ATCTGAAGTCCCTGAGAAACT	0.448000														63			34		0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54147437	54147437	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:54147437C>T	uc003xrh.1	-	1	867	c.492G>A	c.(490-492)gtG>gtA	p.V164V	OPRK1_uc022aup.1_Silent_p.V44V|OPRK1_uc003xri.1_Silent_p.V164V|OPRK1_uc010lyc.1_Silent_p.V75V	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	164					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CCAAAGCCTTCACGGGGTGGC	0.488000														68			14		0	0	1	0	0
PDIA2	64714	broad.mit.edu	37	16	335186	335186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:335186G>A	uc002cgn.1	+	9	1889	c.781G>A	c.(781-783)Gag>Aag	p.E261K	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgo.1_Missense_Mutation_p.E261K|PDIA2_uc010bqt.1_Missense_Mutation_p.E106K	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA.	261					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCTGGTCACGGAGTTCAACAG	0.662000														43			6		0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389971	150389971	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150389971G>A	uc003who.3	+	2	685	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	199						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGAACTAATGGACTGTATTG	0.468000														159			34		0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132237666	132237666	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:132237666G>A	uc002tsu.4	+	3	593	c.400G>A	c.(400-402)Ggc>Agc	p.G134S		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	134					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		AGGACTGCAGGGCTTCCTCAT	0.587000														92			18		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833838	168833838	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:168833838C>T	uc011bpj.1	-	7	2225	c.1822G>A	c.(1822-1824)Gat>Aat	p.D608N	MECOM_uc010hwk.1_Missense_Mutation_p.D443N|MECOM_uc003ffj.3_Missense_Mutation_p.D485N|MECOM_uc003ffi.3_Missense_Mutation_p.D420N|MECOM_uc011bpi.1_Missense_Mutation_p.D421N|MECOM_uc003ffn.3_Missense_Mutation_p.D420N|MECOM_uc003ffk.2_Missense_Mutation_p.D420N|MECOM_uc003ffl.2_Missense_Mutation_p.D580N|MECOM_uc011bpk.1_Missense_Mutation_p.D420N|MECOM_uc010hwn.2_Missense_Mutation_p.D608N	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTCTCTTTATCACTTTCAATG	0.383000														76			17		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18657708	18657708	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:18657708G>A	uc003zne.4	+	7	1058	c.906G>A	c.(904-906)agG>agA	p.R302R	ADAMTSL1_uc003znb.3_Silent_p.R302R|ADAMTSL1_uc003znc.4_Silent_p.R302R	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	302						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ACCGATGGAGGGAGACGGATT	0.463000														38			8		0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44624497	44624497	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:44624497C>T	uc021xnx.1	-	5	794	c.777G>A	c.(775-777)caG>caA	p.Q259Q		NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA.	259						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						CAAGAAGCTGCTGTCCTTCCA	0.448000														31			6		0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34976624	34976624	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:34976624G>A	uc003zvq.3	+	4	914	c.736G>A	c.(736-738)Gag>Aag	p.E246K	KIAA1045_uc003zvr.3_Missense_Mutation_p.E246K	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	246							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GGAGCAAGAAGAGCAGGCGGC	0.612000														65			18		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15928546	15928546	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:15928546C>T	uc003jfn.1	+	2	1156	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	225					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GTTACAATATCTCCAACGAGG	0.582000														59			18		0	0	1	0	0
CREG2	200407	broad.mit.edu	37	2	102000095	102000095	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:102000095G>A	uc002tba.2	-	1	557	c.511C>T	c.(511-513)Cct>Tct	p.P171S		NM_153836	NP_722578	Q8IUH2	CREG2_HUMAN	Homo sapiens cellular repressor of E1A-stimulated genes 2 (CREG2), mRNA.	171						extracellular region	FMN binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TAGAAGAAAGGAATCCCAGTG	0.517000														63			23		0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151804206	151804206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151804206G>A	uc001ezh.3	-	0	143	c.35C>T	c.(34-36)tCa>tTa	p.S12L	RORC_uc010pdo.2_5'UTR|RORC_uc010pdp.2_Missense_Mutation_p.S12L	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	12	Modulating (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTTACCCCGTGAGGCTCGGTG	0.662000														171			19		0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159860290	159860290	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159860290C>T	uc001fui.3	-	2	270	c.252G>A	c.(250-252)cgG>cgA	p.R84R	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_5'UTR|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Silent_p.R84R	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	84						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GGACCATGTCCCGGGTGATGA	0.522000														129			18		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34003130	34003130	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34003130G>A	uc001bxm.1	-	60	9888	c.9711C>T	c.(9709-9711)tcC>tcT	p.S3237S	CSMD2_uc001bxn.1_Silent_p.S3093S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3214	Sushi 26.					integral to membrane|plasma membrane	protein binding	p.G3236V(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCAGGAGAAGGAGACAGATG	0.607000														74			28		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45396248	45396248	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45396248G>A	uc001zun.3	-	19	2767	c.2564C>T	c.(2563-2565)tCc>tTc	p.S855F	DUOX2_uc010bea.3_Missense_Mutation_p.S855F	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	855	EF-hand 2.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ATCCTCTGGGGAGCCTGGGAA	0.512000														33			12		0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443492	5443492	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5443492G>A	uc010qzd.2	+	0	152	c.62G>A	c.(61-63)gGa>gAa	p.G21E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACATCCCTGGATTTGAGGCC	0.502000														156			47		0	0	1	0	0
CERS5	91012	broad.mit.edu	37	12	50561058	50561058	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:50561058G>A	uc001rwd.4	-	0	40	c.23C>T	c.(22-24)cCc>cTc	p.P8L	CERS5_uc001rwe.4_5'UTR|CERS5_uc001rwf.4_Non-coding_Transcript|CERS5_uc010smq.1_5'UTR	NM_147190	NP_671723	Q8N5B7	CERS5_HUMAN	Homo sapiens ceramide synthase 5 (CERS5), mRNA.	8					ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CAAGCTTAGGGGTCCCTGCGC	0.697000														28			14		0	0	1	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021257	142021257	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142021257C>T	uc011krr.1	+	1	422	c.237C>T	c.(235-237)ttC>ttT	p.F79F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Silent_p.F79F					SubName: Full=V_segment translation product; Flags: Fragment;																		AAGGAAACTTCCCTGGTCGAT	0.527000														37			21		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423451	56423451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56423451C>T	uc010ygg.2	-	4	1757	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	578							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAGTAGGCTTCTTTGTCAAGC	0.418000														108			43		0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79363156	79363156	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:79363156G>A	uc002soa.1	-	3		c.1158C>T			REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript					Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds.																		AATGTCCCAGGATTTGTAGGA	0.517000														24			6		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189060833	189060833	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:189060833C>T	uc003izm.1	+	0	236	c.121C>T	c.(121-123)Ctc>Ttc	p.L41F		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	41					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGTGTGTCTCCTCAGGAGCTG	0.547000														206			87		0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54967229	54967229	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54967229G>A	uc001sgd.2	+	8	1320	c.927G>A	c.(925-927)atG>atA	p.M309I	PDE1B_uc010soz.2_Missense_Mutation_p.M172I|PDE1B_uc010spa.1_Missense_Mutation_p.M268I|PDE1B_uc001sge.3_Missense_Mutation_p.M289I|PDE1B_uc001sgf.3_Missense_Mutation_p.M172I|PDE1B_uc009znq.3_Missense_Mutation_p.M105I	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	309	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						ATGATGAGATGAACATTTTCA	0.453000														73			17		0	0	1	0	0
ADRB2	154	broad.mit.edu	37	5	148207537	148207537	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:148207537C>T	uc003lpr.2	+	0	1382	c.1143C>T	c.(1141-1143)ctC>ctT	p.L381L	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	Homo sapiens adrenergic, beta-2-, receptor, surface (ADRB2), mRNA.	381					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	GTGAAGACCTCCCAGGCACGG	0.483000														72			7		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106526580	106526580	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:106526580G>A	uc003vdv.4	+	10	2958	c.2873_splice	c.e10-1	p.G958_splice	PIK3CG_uc003vdu.3_Splice_Site_p.G958_splice|PIK3CG_uc003vdw.3_Splice_Site_p.G958_splice	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	958	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TTCTCTTAAGGAAACCTATTT	0.373000														45			13		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75266120	75266120	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75266120C>T	uc001xqj.4	+	4	4244	c.4120C>T	c.(4120-4122)Cga>Tga	p.R1374*	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTTGAGGATTCGAGAGTATCC	0.463000														202			46		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858356	9858356	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:9858356C>T	uc010uym.2	-	13	3355	c.3045G>A	c.(3043-3045)aaG>aaA	p.K1015K	GRIN2A_uc002czo.4_Silent_p.K1015K|GRIN2A_uc010uyn.2_Silent_p.K858K|GRIN2A_uc002czr.4_Silent_p.K1015K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1015					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.W1014L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCACGGATTTCTTCCACAGCT	0.532000														74			36		0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247464567	247464567	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247464567G>A	uc009xgv.3	-	7	1163	c.1126C>T	c.(1126-1128)Ccg>Tcg	p.P376S	ZNF496_uc001ico.3_Missense_Mutation_p.P340S	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	340					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			AGAGATCGCGGGTTGCCGCCA	0.602000														73			15		0	0	1	0	0
CD19	930	broad.mit.edu	37	16	28944296	28944296	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:28944296C>T	uc010byo.2	+	2	482	c.420C>T	c.(418-420)tcC>tcT	p.S140S	NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Silent_p.S140S	NM_001178098	NP_001171569	P15391	CD19_HUMAN	Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA.	140					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	p.S140Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						AGAACAGGTCCTCAGAGGGCC	0.617000														14			3		0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41774051	41774051	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:41774051G>A	uc003ori.3	-	3	893	c.671C>T	c.(670-672)tCg>tTg	p.S224L		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	224					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ggcggggcgcgaggcagccgg	0.751000														16			16		0	0	1	0	0
OXA1L	5018	broad.mit.edu	37	14	23235850	23235850	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23235850C>T	uc001wgn.2	+	0	120	c.120C>T	c.(118-120)ttC>ttT	p.F40F	OXA1L_uc010tnc.2_Silent_p.F40F|OXA1L_uc001wgp.2_5'Flank	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA.	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	p.F40F(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AAAAGTGCTTCCTCTCGAGGG	0.547000														148			69		0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102548620	102548620	+	Silent	SNP	G	A	A	rs113093780		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:102548620G>A	uc001yku.4	-	9	2107	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	HSP90AA1_uc001ykv.4_Silent_p.D761D	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	639					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TAATGGAATGGTCAGGGTTTA	0.448000														232			97		0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122420051	122420051	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122420051C>T	uc003efq.4	+	5	2709	c.2650C>T	c.(2650-2652)Cgc>Tgc	p.R884C	PARP14_uc021xdc.1_Missense_Mutation_p.R748C|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.R601C|PARP14_uc003efs.1_Missense_Mutation_p.R601C	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	884	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGTGGGGCCCCGCTGGAGCGG	0.557000														23			9		0	0	1	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41454959	41454959	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41454959G>A	uc002opq.3	+	9		c.1303_splice	c.e9-1		CYP2A7_uc002opo.3_Intron					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TGCCCACAGGGAAGCGGATTT	0.572000														37			14		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197032181	197032181	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197032181G>A	uc001gtt.1	-	1	115	c.71C>T	c.(70-72)cCc>cTc	p.P24L		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	24	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AAAACCACAGGGTTTCTCTGA	0.294000														163			62		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99438647	99438647	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:99438647C>T	uc002szf.1	-	6	2383	c.2089G>A	c.(2089-2091)Gat>Aat	p.D697N		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	697										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						GAGGCGCCATCCCTGTATTTG	0.637000														21			4		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110477352	110477352	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:110477352G>A	uc001pkz.1	-	9	1182	c.897C>T	c.(895-897)ctC>ctT	p.L299L	ARHGAP20_uc001pky.1_Silent_p.L276L|ARHGAP20_uc009yyb.1_Silent_p.L263L|ARHGAP20_uc001pla.1_Silent_p.L263L	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	299					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCTCTCGGGGGAGCTGTTCCA	0.537000														194			96		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110882049	110882049	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:110882049C>T	uc003hzy.4	+	6	1545	c.1093C>T	c.(1093-1095)Cat>Tat	p.H365Y	EGF_uc011cfu.2_Missense_Mutation_p.H323Y|EGF_uc011cfv.2_Missense_Mutation_p.H365Y	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	365	EGF-like 2; calcium-binding (Potential).				DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTTTTGGAATCATGGCTGTAC	0.388000														69			16		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161729	57161729	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57161729G>A	uc001cyk.4	+	5	756	c.685G>A	c.(685-687)Ggt>Agt	p.G229S		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	229	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GATCCGAGGGGGTGTCTTTTA	0.443000														345			38		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74153399	74153399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:74153399G>A	uc021ulp.1	-	2	1930	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CGCGCGCGGCGATGCACGCGT	0.701000														19			14		0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160459991	160459991	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160459991G>A	uc001fwe.2	-	4	863	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S	SLAMF6_uc010pji.2_Missense_Mutation_p.P154S|SLAMF6_uc001fwd.2_Missense_Mutation_p.P265S|SLAMF6_uc010pjh.2_Missense_Mutation_p.P216S|SLAMF6_uc010pjj.2_Missense_Mutation_p.P154S	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	265						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TGCTCACCGGGGCCCTGTGTT	0.478000														120			35		0	0	1	0	0
OTOR	56914	broad.mit.edu	37	20	16730641	16730641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:16730641G>A	uc002wpj.3	+	2	393	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K		NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	Homo sapiens otoraplin (OTOR), mRNA.	117					sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						AGCTACCAAGGAAGTTCCCAC	0.488000														31			12		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77343191	77343191	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77343191G>A	uc004ajl.1	-	37	6137	c.5899C>T	c.(5899-5901)Cat>Tat	p.H1967Y	TRPM6_uc004ajk.1_Missense_Mutation_p.H1962Y|TRPM6_uc022bib.1_Missense_Mutation_p.H1962Y|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.H918Y|TRPM6_uc010mpd.1_Missense_Mutation_p.H800Y|TRPM6_uc010mpe.1_Missense_Mutation_p.H514Y|TRPM6_uc004ajj.1_Missense_Mutation_p.H923Y	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1967	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAGTTACAATGATGTTTTGCA	0.398000														62			20		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396866	154396866	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:154396866G>A	uc010jih.1	+	0	3607	c.3447G>A	c.(3445-3447)gaG>gaA	p.E1149E		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1149	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATCCTACCGAGGTGACCCCAG	0.527000														59			35		0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090609	184090609	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:184090609C>T	uc003fol.1	-	5	969	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	THPO_uc003fom.2_Missense_Mutation_p.E248K|THPO_uc021xii.1_Missense_Mutation_p.R246Q|THPO_uc003fon.3_Missense_Mutation_p.R213Q|THPO_uc011bro.2_Intron|THPO_uc003fop.3_Missense_Mutation_p.R209Q|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Missense_Mutation_p.R173Q	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	252					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	p.E252K(2)		NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCAAGAGTTCGTGTATCCTG	0.557000														106			26		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56917978	56917978	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:56917978C>T	uc002ekd.4	+	13	1716	c.1687C>T	c.(1687-1689)Caa>Taa	p.Q563*	SLC12A3_uc010ccm.3_Nonsense_Mutation_p.Q563*|SLC12A3_uc010ccn.3_Nonsense_Mutation_p.Q562*	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	563					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ACCTTCATTCCAATACTACAA	0.612000														49			12		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168180980	168180980	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:168180980C>T	uc010jjg.3	-	16	2138	c.1718G>A	c.(1717-1719)cGa>cAa	p.R573Q	SLIT3_uc003mab.3_Missense_Mutation_p.R573Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	573					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTCCCTCTCGCACCTCCTT	0.552000														15			6		0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10742306	10742306	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10742306C>T	uc002mpf.3	+	7	646	c.507C>T	c.(505-507)gcC>gcT	p.A169A	SLC44A2_uc002mpe.4_Silent_p.A167A	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	169					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ATGCAGTGGCCCGGAGATGCT	0.607000														24			12		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11071021	11071021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:11071021C>T	uc010hdq.3	+	11	1717	c.1306C>T	c.(1306-1308)Ctc>Ttc	p.L436F		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	436					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCTGATCGGTCTCTCTAACAT	0.592000														43			9		0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178802677	178802677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:178802677C>T	uc001glz.3	+	7	937	c.599C>T	c.(598-600)cCc>cTc	p.P200L	RALGPS2_uc001gly.1_Missense_Mutation_p.P200L|RALGPS2_uc010pnb.2_Missense_Mutation_p.P200L	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	200	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CCTTGCATTCCCTATTTAGGT	0.289000														78			27		0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153431388	153431388	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153431388C>T	uc001fbv.1	-	1	173	c.102G>A	c.(100-102)acG>acA	p.T34T		NM_002963	NP_002954	P31151	S10A7_HUMAN	Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.	34	EF-hand 1.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTCATCATCGTCAGCAGGC	0.468000														139			48		0	0	1	0	0
SDC4	6385	broad.mit.edu	37	20	43959189	43959189	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43959189G>A	uc002xnu.3	-	3	302	c.262C>T	c.(262-264)Cat>Tat	p.H88Y	SDC4_uc010zws.2_Missense_Mutation_p.H16Y	NM_002999	NP_002990	P31431	SDC4_HUMAN	Homo sapiens syndecan 4 (SDC4), mRNA.	88						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				TCAGGGATATGGTTATCTAGA	0.542000			T	ROS1	NSCLC									30			15		0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55880415	55880415	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:55880415G>A	uc021tir.1	-	13	1909	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	CES5A_uc002eip.2_Missense_Mutation_p.S559F|CES5A_uc002eio.2_Missense_Mutation_p.S509F|CES5A_uc002eiq.2_Missense_Mutation_p.S320F|CES5A_uc002eir.2_Missense_Mutation_p.S453F	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	559						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GAAAGTTAAGGAAGAAAGAGG	0.483000														153			51		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16026284	16026284	+	Missense_Mutation	SNP	C	T	T	rs13306549		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:16026284C>T	uc010lsu.3	-	3	431	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	MSR1_uc003wwz.3_Missense_Mutation_p.E105K|MSR1_uc003wxa.3_Missense_Mutation_p.E105K|MSR1_uc003wxb.3_Missense_Mutation_p.E105K|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	105					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTTCCTCTTCGCTGTCATTT	0.403000														94			99		0	0	1	0	0
EVL	51466	broad.mit.edu	37	14	100551165	100551165	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:100551165C>T	uc001ygu.3	+	1	240	c.153C>T	c.(151-153)gtC>gtT	p.V51V	EVL_uc001ygt.3_Silent_p.V49V|EVL_uc001ygv.2_Silent_p.V55V	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Homo sapiens Enah/Vasp-like (EVL), mRNA.	49	WH1.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	SH3 domain binding|actin binding|profilin binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				CCTTCAGAGTCGTTGGAGTCA	0.527000														87			10		0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183655757	183655757	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183655757G>A	uc003fmg.3	-	25	3951	c.3786C>T	c.(3784-3786)ggC>ggT	p.G1262G	ABCC5_uc011bqt.2_Silent_p.G790G|ABCC5_uc010hxl.3_Silent_p.G1219G	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1262	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTCGGCAAGGCCAATATCAC	0.547000														75			34		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16967672	16967672	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:16967672G>A	uc001ioo.3	-	41	6425	c.6373C>T	c.(6373-6375)Caa>Taa	p.Q2125*		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2125	CUB 15.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGCCACTTTGGACCAGGACG	0.502000														63			26		0	0	1	0	0
LOC285359	285359	broad.mit.edu	37	3	101432057	101432057	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:101432057C>T	uc003dvj.3	+	0		c.780C>T								Homo sapiens phosducin-like 3 pseudogene (LOC285359), non-coding RNA.																		CTATCACATGCCGAACTTTCT	0.398000														26			4		0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128987836	128987836	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:128987836C>T	uc003els.3	+	17	1936	c.1836C>T	c.(1834-1836)atC>atT	p.I612I	COPG1_uc010htb.3_Silent_p.I518I	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	Homo sapiens coatomer protein complex, subunit gamma (COPG), mRNA.	612	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										GGCAGGAGATCTTCCAGGGTG	0.512000														85			24		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8176141	8176141	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:8176141G>A	uc003wsh.4	-	4	3744	c.3744C>T	c.(3742-3744)ttC>ttT	p.F1248F		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1248	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										GGAACTCATCGAACTTGCGGT	0.642000														41			19		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760700	92760700	+	Missense_Mutation	SNP	C	T	T	rs147406199		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92760700C>T	uc003umh.1	-	4	5801	c.4585G>A	c.(4585-4587)Gct>Act	p.A1529T	SAMD9L_uc003umj.1_Missense_Mutation_p.A1529T|SAMD9L_uc003umi.1_Missense_Mutation_p.A1529T|SAMD9L_uc010lfb.1_Missense_Mutation_p.A1529T|SAMD9L_uc003umk.1_Missense_Mutation_p.A1529T|SAMD9L_uc010lfc.1_Missense_Mutation_p.A1529T|SAMD9L_uc010lfd.1_Missense_Mutation_p.A1529T|SAMD9L_uc022ahh.1_Missense_Mutation_p.A1529T	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1529										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGCCTTCAGCCTGACCAGTT	0.398000														96			22		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058656	9058656	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9058656G>A	uc002mkp.3	-	2	28994	c.28790C>T	c.(28789-28791)tCc>tTc	p.S9597F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9599	Ser-rich.|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						TGTCTCTGTGGATGAGGTGAT	0.527000														38			15		0	0	1	0	0
PPP1R2P3	153743	broad.mit.edu	37	5	156277636	156277636	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156277636G>A	uc003lwf.1	+	0	88	c.63G>A	c.(61-63)acG>acA	p.T21T						Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 (PPP1R2P3), non-coding RNA.																		AGACCTCTACGACTTCCTCTA	0.602000														13			4		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26802553	26802553	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:26802553G>A	uc001iss.3	+	7	1098	c.777G>A	c.(775-777)gaG>gaA	p.E259E	APBB1IP_uc009xks.1_Silent_p.E259E	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	259	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TATTTTTGGAGAAAGAGGAGA	0.313000														113			40		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371658	240371658	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240371658G>A	uc010pye.2	+	5	3783	c.3558G>A	c.(3556-3558)gtG>gtA	p.V1186V	FMN2_uc010pyd.2_Silent_p.V1182V	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1182	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCTGGAGTGGGAATACCTC	0.682000														53			5		0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108826	75108826	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:75108826C>T	uc002ayt.1	+	2	391	c.389C>T	c.(388-390)tCg>tTg	p.S130L	LMAN1L_uc010bkd.2_Missense_Mutation_p.S58L|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Missense_Mutation_p.S130L	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	130	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	p.S130L(2)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCTGGCTTCGTGGGACGGC	0.667000														67			94		0	0	1	0	0
CDK20	23552	broad.mit.edu	37	9	90584785	90584785	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90584785G>A	uc004apr.3	-	5	947	c.613C>T	c.(613-615)Ccg>Tcg	p.P205S	CDK20_uc004aps.3_Missense_Mutation_p.P184S|CDK20_uc022bjj.1_Missense_Mutation_p.P184S|CDK20_uc004apt.3_Missense_Mutation_p.P197S|CDK20_uc004apu.3_Intron	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	Homo sapiens cyclin-dependent kinase 20 (CDK20), transcript variant 3, mRNA.	205	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						TTCTTGCCCGGGAAAAGGGGG	0.577000														73			7		0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385829	33385829	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:33385829G>A	uc003zst.3	-	6	733	c.561C>T	c.(559-561)ttC>ttT	p.F187F	AQP7_uc003zsu.1_Silent_p.F130F|AQP7_uc010mjs.2_Silent_p.F95F|AQP7_uc010mjt.2_Silent_p.F95F|AQP7_uc011lny.1_Silent_p.F186F|AQP7_uc003zss.3_Silent_p.F95F|AQP7_uc011lnz.1_Silent_p.F95F|AQP7_uc011loa.1_Missense_Mutation_p.R56C|AQP7_uc011lnx.1_Silent_p.F187F	NM_001170	NP_001161	O14520	AQP7_HUMAN	Homo sapiens aquaporin 7 (AQP7), mRNA.	187					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCGTGATGGCGAAGAGACACA	0.627000														68			9		0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50785001	50785001	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:50785001C>T	uc001zym.4	+	15	2838	c.2338C>T	c.(2338-2340)Cgt>Tgt	p.R780C	USP8_uc001zyl.4_Missense_Mutation_p.R780C|USP8_uc001zyn.4_Missense_Mutation_p.R780C|USP8_uc010ufh.2_Missense_Mutation_p.R674C|AX746640_uc001zyo.1_Non-coding_Transcript|USP8_uc001zyp.4_5'Flank	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	780					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TACTGGACTTCGTAACTTAGG	0.403000														107			38		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423159	56423159	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56423159G>A	uc010ygg.2	-	4	2049	c.2024C>T	c.(2023-2025)tCa>tTa	p.S675L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	675							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TAGGCAAAATGAAGAAGCTTG	0.403000														171			16		0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36050801	36050801	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36050801G>A	uc002oal.1	-	6	991	c.962C>T	c.(961-963)gCc>gTc	p.A321V	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	321					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.V320L(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	AATGCACATGGCCACAATAAA	0.547000														58			31		0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42122179	42122179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:42122179C>T	uc003gwn.3	-	4	1859	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	BEND4_uc003gwm.3_Missense_Mutation_p.E427K|BEND4_uc011byy.1_Missense_Mutation_p.E427K	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	427	BEN.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TACTTAAGCTCATCGGTTGTG	0.468000														49			6		0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69095062	69095062	+	Missense_Mutation	SNP	G	A	A	rs150665678		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69095062G>A	uc003hdw.4	-	7	995	c.859C>T	c.(859-861)Cgt>Tgt	p.R287C		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	287	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CAAATCTTACGAATGTACTCT	0.358000														84			31		0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56587632	56587632	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:56587632C>T	uc010xeg.2	+	2	2310	c.2113C>T	c.(2113-2115)Ctt>Ttt	p.L705F	ZNF532_uc002lhp.3_Missense_Mutation_p.L703F|ZNF532_uc002lho.3_Missense_Mutation_p.L705F|ZNF532_uc002lhr.3_Missense_Mutation_p.L703F|ZNF532_uc002lhs.3_Missense_Mutation_p.L703F	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AACTTCCACTCTTCAGAGCCC	0.483000														92			6		0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148921668	148921668	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:148921668C>T	uc003wfm.3	+	7	2050	c.1945C>T	c.(1945-1947)Ctg>Ttg	p.L649L	ZNF282_uc011kun.1_3'UTR|ZNF282_uc003wfo.3_3'UTR	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	649					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CAAGGACCACCTGCGCGTGCA	0.731000														31			9		0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110670406	110670406	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:110670406G>A	uc011cft.2	-	10	1348	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	CFI_uc003hzq.3_Silent_p.G169G|CFI_uc003hzr.4_Silent_p.G372G	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	372	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GAATCCAACAGCCACCAATAT	0.438000														264			104		0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85438259	85438259	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:85438259C>T	uc002blg.3	+	5	568	c.366C>T	c.(364-366)ttC>ttT	p.F122F	SLC28A1_uc010upd.1_Silent_p.F44F|SLC28A1_uc010bnb.3_Silent_p.F122F|SLC28A1_uc010upe.2_Silent_p.F122F|SLC28A1_uc010upf.1_Silent_p.F122F|SLC28A1_uc010upg.1_Silent_p.F122F|SLC28A1_uc002blf.3_Silent_p.F122F	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	122					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCCTCACCTTCCTGGGCCACC	0.622000														167			10		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8819105	8819105	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:8819105C>T	uc002knr.2	+	12	3146	c.3004C>T	c.(3004-3006)Ccg>Tcg	p.P1002S	SOGA2_uc002knq.2_Missense_Mutation_p.P961S|SOGA2_uc002kns.2_Missense_Mutation_p.P342S	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1312																	TGACTCCATCCCGTTTGAAGA	0.597000														66			25		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167077760	167077760	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:167077760C>T	uc011bpc.2	-	7	667	c.330G>A	c.(328-330)gtG>gtA	p.V110V	ZBBX_uc003feq.3_Silent_p.V81V|ZBBX_uc003fep.3_Silent_p.V110V	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	110						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTGTTGGTTTCACTGGCTCTG	0.303000														37			17		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31322871	31322871	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:31322871G>A	uc010dmg.1	+	11	3114	c.3059G>A	c.(3058-3060)gGg>gAg	p.G1020E	ASXL3_uc002kxq.2_Missense_Mutation_p.G727E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1020					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCCAAAATTGGGCCACCTTTT	0.453000														36			7		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30954233	30954233	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:30954233C>T	uc021vfn.1	-	19	1992	c.1960G>A	c.(1960-1962)Gga>Aga	p.G654R	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.G650R	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	654	EF-hand 2.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGGTAGAGTCCTTTTCCATCC	0.547000														13			4		0	0	1	0	0
DCD	117159	broad.mit.edu	37	12	55039011	55039011	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55039011C>T	uc001sgj.3	-	3	297	c.235G>A	c.(235-237)Gga>Aga	p.G79R	DCD_uc009znt.3_Missense_Mutation_p.G79R|DCD_uc009znu.3_Non-coding_Transcript	NM_053283	NP_444513	P81605	DCD_HUMAN	Homo sapiens dermcidin (DCD), mRNA.	79					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				TTTCCGAGTCCCCCCACAGCT	0.478000														87			33		0	0	1	0	0
EFCAB11	90141	broad.mit.edu	37	14	90420996	90420996	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:90420996G>A	uc001xxt.3	-	0	94	c.9C>T	c.(7-9)ttC>ttT	p.F3F	EFCAB11_uc001xxs.3_5'Flank|EFCAB11_uc001xxv.1_Non-coding_Transcript|TDP1_uc010atm.3_5'Flank|TDP1_uc001xxy.3_5'Flank|TDP1_uc001xxz.3_5'Flank|TDP1_uc010atn.3_5'Flank|TDP1_uc001xya.3_5'Flank|TDP1_uc001xyb.3_5'Flank|EFCAB11_uc001xxw.2_5'Flank|EFCAB11_uc001xxx.2_Silent_p.F3F	NM_145231	NP_660274	Q9BUY7	EFC11_HUMAN	Homo sapiens EF-hand calcium binding domain 11 (EFCAB11), mRNA.	3							calcium ion binding			large_intestine(1)|lung(1)	2						TGGCCTCGGAGAAGAACATCG	0.652000														21			3		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575497	136575497	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136575497C>T	uc002tuu.1	-	5	1132	c.1121G>A	c.(1120-1122)aGg>aAg	p.R374K		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	374	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAAGGCATCCCTTTCCGCCCT	0.602000														135			47		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120764309	120764309	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:120764309G>A	uc003eec.4	+	4	537	c.397G>A	c.(397-399)Gat>Aat	p.D133N	STXBP5L_uc011bji.2_Missense_Mutation_p.D133N	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	133					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAGTTCAGATGATACACTTCA	0.348000														169			17		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20150060	20150060	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:20150060C>T	uc002wru.3	+	12	1455	c.1341C>T	c.(1339-1341)acC>acT	p.T447T	C20orf26_uc010zse.2_Silent_p.T427T|C20orf26_uc010zsf.1_Silent_p.T447T	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	447										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)		ACACCTGCACCCTCGAGCAGG	0.488000														81			27		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32371624	32371624	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:32371624C>T	uc002wzy.3	+	11	1826	c.1806C>T	c.(1804-1806)ttC>ttT	p.F602F	ZNF341_uc002wzx.3_Silent_p.F595F|ZNF341_uc010geq.3_Silent_p.F512F|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y601C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCAAGAAGTTCTTCCGGCGGG	0.617000														65			12		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320980	56320980	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56320980G>A	uc010ygf.2	-	4	1707	c.996C>T	c.(994-996)ctC>ctT	p.L332L	NLRP11_uc002qlz.3_Silent_p.L233L|NLRP11_uc002qmb.3_Silent_p.L233L|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	332	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACAGACCCACGAGTATTTCAT	0.527000														55			9		0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	33260980	33260980	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:33260980G>A	uc003amx.3	-	4	795	c.633C>T	c.(631-633)ctC>ctT	p.L211L	SYN3_uc003amy.3_Silent_p.L211L|SYN3_uc003amz.3_Silent_p.L210L	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	211	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AGATCTTAATGAGCTGAGAGA	0.453000														147			66		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179650431	179650431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179650431G>A	uc021vsy.1	-	14	2634	c.2409C>T	c.(2407-2409)gtC>gtT	p.V803V	TTN_uc021vsz.1_Silent_p.V757V|TTN_uc021vta.1_Silent_p.V757V|TTN_uc021vtb.1_Silent_p.V757V|TTN_uc002unb.2_Silent_p.V803V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	803							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)			TATCCACATGGACTAATCTTT	0.418000														98			34		0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149360587	149360587	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149360587C>T	uc003lrh.3	+	2	1699	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	477						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGTTCTATTCCCTTCAAAAAA	0.423000														82			5		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20636757	20636757	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20636757C>T	uc002dhm.1	-	10	1583	c.1515G>A	c.(1513-1515)ccG>ccA	p.P505P	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.P505P	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	505					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	p.P505P(4)|p.P156P(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CCCCTCGAATCGGGTCTGGGC	0.602000														16			19		0	0	1	0	0
DEF6	50619	broad.mit.edu	37	6	35289050	35289050	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:35289050C>T	uc003okk.3	+	10	1798	c.1759C>T	c.(1759-1761)Cgc>Tgc	p.R587C	DEF6_uc010jvs.3_Missense_Mutation_p.R562C|DEF6_uc010jvt.3_Missense_Mutation_p.R332C	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	587						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GCGCCTGACCCGCTGGGGATC	0.642000														140			57		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543929	141543929	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:141543929G>T	uc010ioj.3	-	20	3493	c.3221C>A	c.(3220-3222)cCt>cAt	p.P1074H		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	1074						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTCCTTTGCAGGCTGGGCCAC	0.657000														24			7		1.06961e-07	1.07245e-07	1	1	0
POU5F1B	5462	broad.mit.edu	37	8	128428313	128428313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:128428313G>A	uc003ysf.3	+	0	457	c.202G>A	c.(202-204)Gag>Aag	p.E68K	LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|POU5F1B_uc011liu.1_Non-coding_Transcript	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN	Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA.	68						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						CCCGCCGTATGAGTTATGTGG	0.657000														24			15		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111030	7111030	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7111030G>A	uc001mfc.2	+	0	866	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	227	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGACTACCGCGAACCCCGGGG	0.706000														24			8		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50464087	50464087	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:50464087C>T	uc021vhh.1	-	16	4307	c.3386G>A	c.(3385-3387)aGc>aAc	p.S1129N	NRXN1_uc010fbp.3_Missense_Mutation_p.S94N|NRXN1_uc002rxb.4_Missense_Mutation_p.S801N|NRXN1_uc021vhg.1_Missense_Mutation_p.S1169N|NRXN1_uc021vhi.1_Missense_Mutation_p.S1165N|NRXN1_uc021vhj.1_Missense_Mutation_p.S1125N|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1129	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.S94I(1)|p.S1170I(1)|p.S1129I(1)|p.S1169I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACCACCTTTGCTAAAGATATA	0.413000														76			35		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505308	155505308	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155505308G>A	uc003iod.1	-	5	2627	c.2569C>T	c.(2569-2571)Cgc>Tgc	p.R857C		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	857	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R857C(2)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ATTTTCATGCGAACAGCCCTG	0.473000														133			13		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47876552	47876552	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:47876552G>A	uc003tny.2	-	36	5944	c.5910C>T	c.(5908-5910)ctC>ctT	p.L1970L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1970					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCAGGGCAGTGAGACACGCGT	0.602000														27			9		0	0	1	0	0
TCRBV5S2	0	broad.mit.edu	37	7	142131517	142131517	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142131517G>A	uc010lnz.1	-	1	282	c.238C>T	c.(238-240)Cct>Tct	p.P80S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRBV5S2_uc022ang.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		AATCGATCAGGGAAGTTGCCT	0.537000														76			28		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6505811	6505811	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6505811A>T	uc001amy.3	+	6	1448	c.1280A>T	c.(1279-1281)aAg>aTg	p.K427M	ESPN_uc001amz.3_5'Flank	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	427					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		ACGATTGGGAAGcccacaccc	0.687000														11			7		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2153339	2153339	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2153339C>A	uc002cos.1	-	22	8928	c.8719G>T	c.(8719-8721)Gct>Tct	p.A2907S	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.A2907S|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2907					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGACCACAGCACCGACGGAG	0.692000														91			15		1.2644e-06	1.26708e-06	1	1	0
C15orf53	400359	broad.mit.edu	37	15	38990708	38990708	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:38990708C>T	uc001zkf.1	+	1	512	c.502C>T	c.(502-504)Cct>Tct	p.P168S		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	Homo sapiens chromosome 15 open reading frame 53 (C15orf53), mRNA.	168										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		CCTCTCAGATCCTCTGGGGGT	0.527000														13			12		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169512260	169512260	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169512260C>T	uc001ggg.1	-	12	2213	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	690					cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TATGAGTCTTCATCATCATCT	0.393000														170			43		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626688	140626688	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140626688C>T	uc003lje.3	+	0	1542	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	514	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCTGTTCGCTCTCCAGT	0.692000														198			41		0	0	1	0	0
SHD	56961	broad.mit.edu	37	19	4284825	4284825	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4284825G>A	uc002lzw.2	+	3	2103	c.640G>A	c.(640-642)Gag>Aag	p.E214K		NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA.	214								p.K213N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAGCCAAGGAGCTCCGGAG	0.617000														49			14		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594959	55594959	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55594959G>A	uc001nhy.1	+	0	265	c.265G>A	c.(265-267)Gac>Aac	p.D89N		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTTTAACAAGGACAAAGCCAT	0.473000										HNSCC(27;0.073)				209			78		0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128177561	128177561	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:128177561G>A	uc002tol.3	+	1	133	c.106G>A	c.(106-108)Gga>Aga	p.G36R	PROC_uc002tok.3_Missense_Mutation_p.G15R|PROC_uc010yzi.2_Missense_Mutation_p.G36R|PROC_uc010yzj.2_5'UTR|PROC_uc010yzk.2_Missense_Mutation_p.G36R	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	15					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GGCCACCTGGGGAATTTCCGG	0.642000														50			18		0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49726071	49726071	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49726071G>A	uc003cxg.3	-	0	126	c.54C>T	c.(52-54)ctC>ctT	p.L18L	MST1_uc011bcs.1_Silent_p.L18L|MST1_uc010hkx.2_5'UTR|MST1_uc011bct.1_Silent_p.L18L|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	4					proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAGGAGTGGGAGCCACCCCA	0.612000														15			8		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14508475	14508475	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:14508475C>T	uc003jff.3	+	56	9244	c.9238C>T	c.(9238-9240)Cga>Tga	p.R3080*	TRIO_uc003jfg.3_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	3080					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GAATGATGTTCGACCTATCCG	0.522000														105			35		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29455288	29455288	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29455288C>T	uc002rmy.3	-	14	3466	c.2514G>A	c.(2512-2514)ctG>ctA	p.L838L		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	838	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CTGCAATGATCAGGGGCACCG	0.572000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					35			15		0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519078	53519078	+	Silent	SNP	G	A	A	rs138040011		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:53519078G>A	uc003pcb.4	-	1	1134	c.993C>T	c.(991-993)tcC>tcT	p.S331S		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CTCTGCTAAGGGACTTCTCAG	0.488000														89			41		0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090016	115090016	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:115090016C>T	uc001vuv.3	+	2	1031	c.699C>T	c.(697-699)ttC>ttT	p.F233F	CHAMP1_uc010tko.2_Silent_p.F233F|CHAMP1_uc010ahb.3_Silent_p.F233F|CHAMP1_uc021rmx.1_Silent_p.F233F	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	233	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										AGTCTCATTTCCCGGAAACAT	0.532000														156			9		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69329483	69329484	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:69329483_69329484CC>TT	uc002ars.2	+	7	1345_1346	c.1304_1305CC>TT	c.(1303-1305)gcc>gTT	p.A435V	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.A389V|NOX5_uc002arp.2_Missense_Mutation_p.A417V|NOX5_uc010bid.2_Missense_Mutation_p.A400V|NOX5_uc010bie.2_Missense_Mutation_p.A235V|NOX5_uc002arr.2_Missense_Mutation_p.A407V|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	435	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CTGGAGAAGGCCATCGGACTGG	0.569000														98			36		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9523353	9523354	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9523353_9523354GG>AA	uc002wnl.2	-	9	2428_2429	c.1883_1884CC>TT	c.(1882-1884)tcc>tTT	p.S628F	PAK7_uc002wnk.2_Missense_Mutation_p.S628F|PAK7_uc002wnj.2_Missense_Mutation_p.S628F|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	628	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGATCCCGAGGGACCAGATGTC	0.515000														76			19		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133900607	133900607	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133900607G>A	uc003ytw.3	+	9	2596	c.2555G>A	c.(2554-2556)gGg>gAg	p.G852E		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	852	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCACTGGAAGGGAAACGGCCC	0.537000														56			19		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101016248	101016248	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:101016248G>A	uc003yjb.1	-	16	2728	c.2533C>T	c.(2533-2535)Cct>Tct	p.P845S	RGS22_uc003yja.1_Missense_Mutation_p.P664S|RGS22_uc003yjc.1_Missense_Mutation_p.P833S|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.P234S|SNORD77_uc022azg.1_5'Flank	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	845					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TATTCTGCAGGAACATTATCC	0.373000														60			22		0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55522891	55522891	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:55522891G>A	uc002ryv.2	-	30	6232	c.5390C>T	c.(5389-5391)cCt>cTt	p.P1797L	CCDC88A_uc010ypa.1_Intron|CCDC88A_uc010yoz.1_Missense_Mutation_p.P1770L|CCDC88A_uc002ryt.2_Missense_Mutation_p.P88L|CCDC88A_uc010fbw.2_Missense_Mutation_p.P299L|CCDC88A_uc002ryu.2_Missense_Mutation_p.P1052L|CCDC88A_uc002rys.3_Missense_Mutation_p.P755L|CCDC88A_uc002ryw.3_Missense_Mutation_p.P1081L|CCDC88A_uc010fby.1_Missense_Mutation_p.P649L	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	1798					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AGTTGCATAAGGGTTACTATC	0.413000														79			31		0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810341	106810341	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:106810341G>A	uc009yxn.1	-	3	1441	c.1051C>T	c.(1051-1053)Cga>Tga	p.R351*	GUCY1A2_uc001pjg.1_Nonsense_Mutation_p.R351*|GUCY1A2_uc010rvo.1_Nonsense_Mutation_p.R351*	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	351					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GTGTCACATCGAAGCTGCTTC	0.473000														34			21		0	0	1	0	0
ATP6V0E2	155066	broad.mit.edu	37	7	149576474	149576474	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149576474C>T	uc003wgr.3	+	3	1370	c.419C>T	c.(418-420)tCg>tTg	p.S140L	ATP6V0E2_uc003wgp.3_3'UTR|ATP6V0E2_uc003wgs.3_Missense_Mutation_p.S117L|ATP6V0E2_uc003wgq.3_Non-coding_Transcript|DQ590227_uc003wgt.1_5'Flank	NM_145230	NP_660265	Q8NHE4	VA0E2_HUMAN	Homo sapiens ATPase, H+ transporting V0 subunit e2 (ATP6V0E2), transcript variant 1, mRNA.	0					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			ACAACCCCTTCGTCCGGACCC	0.622000														17			9		0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23443310	23443310	+	Silent	SNP	G	A	A	rs146599877	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23443310G>A	uc001whz.3	-	6	1810	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	AJUBA_uc001why.3_Silent_p.I62I	NM_032876	NP_116265	Q96IF1	JUB_HUMAN	Homo sapiens ajuba LIM protein (AJUBA), transcript variant 1, mRNA.	479	LIM zinc-binding 3.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										TCACCCTCACGATGTCCTCAC	0.537000											OREG0022591	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		143			57		0	0	1	0	0
SCN4B	6330	broad.mit.edu	37	11	118015844	118015844	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:118015844G>A	uc001pse.3	-	1	404	c.162C>T	c.(160-162)acC>acT	p.T54T	SCN4B_uc010rxu.2_5'UTR|SCN4B_uc010rxv.2_Intron	NM_174934	NP_001135821	Q8IWT1	SCN4B_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, beta (SCN4B), transcript variant 1, mRNA.	54	Ig-like C2-type.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		AGCTGGAGAAGGTGCAGGGCA	0.557000											OREG0021380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		146			39		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71155355	71155355	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:71155355C>T	uc001swi.2	-	3	937	c.523G>A	c.(523-525)Gga>Aga	p.G175R	PTPRR_uc010stq.2_Missense_Mutation_p.G63R	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	175					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCAGAAATTCCTGTTTTTCGG	0.343000														137			34		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539691	94539691	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94539691G>A	uc003unp.3	+	1	548	c.266G>A	c.(265-267)gGg>gAg	p.G89E	PPP1R9A_uc010lfj.3_Missense_Mutation_p.G89E|PPP1R9A_uc011kif.2_Missense_Mutation_p.G89E|PPP1R9A_uc003unq.3_Missense_Mutation_p.G89E|PPP1R9A_uc011kig.2_Missense_Mutation_p.G89E	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	89	Actin-binding.					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)			AAAACAAGGGGGAAAGGTGGA	0.418000										HNSCC(28;0.073)				36			23		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49005761	49005761	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:49005761C>T	uc003gyv.3	+	6	994	c.812C>T	c.(811-813)tCa>tTa	p.S271L	CWH43_uc011bzl.2_Missense_Mutation_p.S244L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	271					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GGAACAGCTTCAGCTGCGGGG	0.502000														86			42		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96533503	96533503	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:96533503C>T	uc010how.1	+	0	79	c.36C>T	c.(34-36)tcC>tcT	p.S12S	EPHA6_uc003drp.1_Silent_p.S12S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	0						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						CGAGGAGCTCCCCGGCGCCGC	0.711000														24			9		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416290	86416290	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:86416290G>A	uc003uid.3	+	2	2281	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V	GRM3_uc010lef.3_Silent_p.V392V|GRM3_uc010leg.3_Silent_p.V266V|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	394					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)	TGTTTGTGGTGAACGCGGTGT	0.547000														91			32		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989385	53989385	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:53989385G>A	uc011dxa.2	+	2	400	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	MLIP_uc003pcf.2_Missense_Mutation_p.E112K|MLIP_uc003pcg.4_Missense_Mutation_p.E112K|MLIP_uc003pch.4_Missense_Mutation_p.E50K|MLIP_uc011dwz.1_Missense_Mutation_p.E71K	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	112						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AAGGGAATTCGAAGCAAACAA	0.453000														95			34		0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70716379	70716379	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:70716379C>T	uc001des.3	+	12	1470	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	SRSF11_uc001det.3_Missense_Mutation_p.S448F|SRSF11_uc001dev.3_Missense_Mutation_p.S259F|SRSF11_uc001dew.3_Missense_Mutation_p.S389F	NM_004768	NP_004759	Q05519	SRS11_HUMAN	Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA.	449					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			large_intestine(3)|ovary(2)|skin(1)	6						GAAACAGGTTCCCCTAAAACA	0.408000														69			11		0	0	1	0	0
SMAD5	4090	broad.mit.edu	37	5	135513139	135513139	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:135513139C>T	uc003lbj.1	+	9	1810	c.1366C>T	c.(1366-1368)Cct>Tct	p.P456S	SMAD5_uc003lbk.1_Missense_Mutation_p.P456S|SMAD5_uc003lbl.1_Missense_Mutation_p.P456S	NM_001001419	NP_001001419	Q99717	SMAD5_HUMAN	Homo sapiens SMAD family member 5 (SMAD5), transcript variant 2, mRNA.	457	MH2.				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATGGGCTCCCCTCTGAACCC	0.398000														22			7		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48261760	48261760	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:48261760G>A	uc002eff.1	-	2	702	c.352C>T	c.(352-354)Cct>Tct	p.P118S	ABCC11_uc002efg.1_Missense_Mutation_p.P118S|ABCC11_uc002efh.1_Missense_Mutation_p.P118S|ABCC11_uc010vgl.1_Missense_Mutation_p.P118S	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	118						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GACAGTGGAGGGATGGTGTTC	0.522000														128			44		0	0	1	0	0
PABPC1P2	728773	broad.mit.edu	37	2	147346169	147346169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:147346169G>A	uc002twf.4	+	0	1545	c.629G>A	c.(628-630)cGa>cAa	p.R210Q						Homo sapiens poly(A) binding protein, cytoplasmic 1 pseudogene 2 (PABPC1P2), non-coding RNA.																		GCAAGTGTACGAGCTGTGCCC	0.507000														41			13		0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594836	41594836	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41594836C>T	uc002opt.3	+	1	192	c.183C>T	c.(181-183)atC>atT	p.I61I		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	61					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TCCAACAGATCAGTGAGCGCT	0.612000														63			20		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88769450	88769450	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:88769450G>A	uc001kee.2	+	11	2645	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	481					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GGAGGTGAACGAGACCTGTGG	0.672000														130			64		0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806670	6806670	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6806670C>T	uc001mer.2	+	0	423	c.402C>T	c.(400-402)acC>acT	p.T134T		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 1 (OR2AG1), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATACATGACCCTCATGAGCT	0.527000														53			19		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167247009	167247009	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:167247009G>A	uc003fev.1	-	9	1485	c.1181C>T	c.(1180-1182)tCa>tTa	p.S394L	WDR49_uc003feu.1_Missense_Mutation_p.S219L|WDR49_uc011bpd.1_Missense_Mutation_p.S458L|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	394										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCCTCCACATGATACCAGGTT	0.383000														48			27		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47247066	47247066	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:47247066G>A	uc002ion.2	+	10	1736	c.1677G>A	c.(1675-1677)aaG>aaA	p.K559K	B4GALNT2_uc010wlt.1_Silent_p.K473K|B4GALNT2_uc010wlu.1_Silent_p.K499K	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	559					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			ACTACTTCAAGAACCATCTCC	0.522000														40			9		0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934796	113934796	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113934796G>A	uc001pop.3	+	1	1038	c.774G>A	c.(772-774)ggG>ggA	p.G258G	ZBTB16_uc001poo.1_Silent_p.G258G|ZBTB16_uc001poq.3_Silent_p.G258G	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	258					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		ACAGCCCTGGGGCAGCCGAGT	0.647000														18			15		0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20216065	20216065	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:20216065C>T	uc002nor.2	+	2	305	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	ZNF90_uc021url.1_Non-coding_Transcript	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	56	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						GATCACCTGTCTGGAGCAAGG	0.388000														93			36		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13418659	13418659	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:13418659G>A	uc002mwy.3	-	14	2159	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	CACNA1A_uc010dzc.2_Silent_p.F167F|CACNA1A_uc010xnd.2_Silent_p.F641F|CACNA1A_uc021ups.1_Silent_p.F641F|CACNA1A_uc010xne.2_Silent_p.F641F|CACNA1A_uc010dze.2_Silent_p.F641F|CACNA1A_uc021upt.1_Silent_p.F642F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	642					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCCTTCATCGAAATTAAACC	0.547000														91			19		0	0	1	0	0
SLC39A13	91252	broad.mit.edu	37	11	47436453	47436453	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:47436453G>A	uc009ylq.3	+	7	1088	c.912G>A	c.(910-912)aaG>aaA	p.K304K	SLC39A13_uc001nfd.3_3'UTR|SLC39A13_uc001nfe.1_Non-coding_Transcript|SLC39A13_uc001nff.4_Silent_p.K304K	NM_001128225	NP_001121697	Q96H72	S39AD_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 13 (SLC39A13), transcript variant 1, mRNA.	304					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		AGTCCCCCAAGGGAGTAGGTA	0.682000														56			23		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48452052	48452052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48452052G>A	uc003toq.2	+	40	12355	c.12331G>A	c.(12331-12333)Gag>Aag	p.E4111K	ABCA13_uc010kys.1_Missense_Mutation_p.E1185K|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4111					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGTGGAAGTGAGCTGACCTA	0.493000														44			18		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181386	140181386	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140181386C>T	uc003lhf.2	+	0	604	c.604C>T	c.(604-606)Cga>Tga	p.R202*	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Nonsense_Mutation_p.R202*	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	217	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.E202*(1)		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)			AAATTTAAATCGAGAGGACAC	0.363000														109			12		0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52567414	52567414	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52567414C>T	uc001rzw.3	-	2	957	c.906G>A	c.(904-906)ctG>ctA	p.L302L	KRT80_uc001rzy.3_Silent_p.L267L|KRT80_uc001rzx.3_Silent_p.L267L	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	267	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CGGCCTCCTCCAGGCTGCGAG	0.662000														77			28		0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52371064	52371064	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:52371064G>A	uc003joy.3	+	22	2898	c.2755G>A	c.(2755-2757)Gaa>Aaa	p.E919K	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.E843K|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	919					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AAGCCAAGAAGAAAACAAGGC	0.348000														39			21		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367211	107367211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107367211C>T	uc011lvq.2	-	0	698	c.698G>A	c.(697-699)gGg>gAg	p.G233E		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E232K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TTTGCTTCTCCCCTCGGAAGA	0.413000														68			25		0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156351641	156351641	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156351641G>A	uc010pho.2	+	5	923	c.885G>A	c.(883-885)ggG>ggA	p.G295G	RHBG_uc010phm.1_Silent_p.G133G|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Silent_p.G226G|RHBG_uc009wrz.3_Silent_p.G263G|RHBG_uc001for.3_Silent_p.G265G	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	295					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TTGTGGTGGGGACCTCAAGTG	0.557000														64			24		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8214429	8214429	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:8214429C>T	uc003gkv.4	+	4	349	c.248_splice	c.e4-1	p.D83_splice	SH3TC1_uc003gkw.4_Splice_Site_p.D7_splice|SH3TC1_uc003gkx.4_Splice_Site	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	83							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCCCTCCAGACCTGACCCTGC	0.652000														15			11		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103143606	103143606	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:103143606G>A	uc022ajr.1	-	51	8506	c.8346C>T	c.(8344-8346)ttC>ttT	p.F2782F	RELN_uc022ajq.1_Silent_p.F2782F|RELN_uc010liz.3_Silent_p.F2782F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2782					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	p.F2782L(2)		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)		AACTCACACCGAAGTCAGTAG	0.408000														73			35		0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492823	21492823	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:21492823C>T	uc002wsi.3	-	1	917	c.560G>A	c.(559-561)cGg>cAg	p.R187Q		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	187					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TTTCTCGGCCCGGGCGCGCTT	0.677000														38			15		0	0	1	0	0
TRIL	9865	broad.mit.edu	37	7	28997133	28997133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:28997133G>A	uc003szt.3	-	2	894	c.527C>T	c.(526-528)cCc>cTc	p.P176L	DQ601810_uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	Homo sapiens TLR4 interactor with leucine-rich repeats (TRIL), mRNA.	177					inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										GTTGCCCAAGGGAGCGAAGAC	0.652000														33			11		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754848	49754848	+	Missense_Mutation	SNP	C	T	T	rs149194608		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:49754848C>T	uc003ozu.3	-	0	206	c.53G>A	c.(52-54)cGa>cAa	p.R18Q		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	18					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CATGATGACTCGCTTCCCTCT	0.418000														76			33		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4829647	4829647	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:4829647G>A	uc003bqc.3	+	50	6937	c.6587G>A	c.(6586-6588)cGa>cAa	p.R2196Q	ITPR1_uc021wsi.1_Missense_Mutation_p.R2163Q|ITPR1_uc021wsj.1_Missense_Mutation_p.R2148Q|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2211					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGATTAGACCGAACAATGGAA	0.383000														18			5		0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157803146	157803146	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157803146G>A	uc001frk.4	-	4	1018	c.875C>T	c.(874-876)tCt>tTt	p.S292F		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	292	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GAAGGAGGGAGAGAGGGACTT	0.587000														125			15		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32090200	32090200	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:32090200C>G	uc003jhl.3	+	19	7034	c.6646C>G	c.(6646-6648)Cca>Gca	p.P2216A	PDZD2_uc003jhm.3_Missense_Mutation_p.P2216A	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2216					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTACTTCACCCCAAGGCCAGC	0.617000														336			62		0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39994806	39994806	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39994806G>A	uc002olx.2	+	4	806	c.748G>A	c.(748-750)Gtc>Atc	p.V250I	DLL3_uc010egq.3_Missense_Mutation_p.V250I|DLL3_uc002olw.2_Missense_Mutation_p.V250I	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA.	250					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCTCTGCACGGTCCCTGTCTC	0.667000														44			22		0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180432565	180432565	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:180432565G>A	uc003mmr.3	+	7	1278	c.1094G>A	c.(1093-1095)gGg>gAg	p.G365E	BTNL3_uc010jlp.3_Missense_Mutation_p.G150E	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	365	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GTAGACAGGGGGAAGAACAAT	0.478000														60			18		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49244651	49244651	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:49244651C>T	uc002rww.3	-	3	461	c.351G>A	c.(349-351)caG>caA	p.Q117Q	FSHR_uc010fbn.3_Silent_p.Q117Q|FSHR_uc002rwx.3_Silent_p.Q117Q|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	117					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGGGAAGGTTCTGGAAGGCCT	0.393000									Gonadal Dysgenesis, 46 XX					66			19		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59170239	59170239	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:59170239G>A	uc010dps.1	+	3	867	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	CDH20_uc002lif.2_Missense_Mutation_p.E233K	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	239	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)				AGAATACTACGAAGTGATTAT	0.448000											OREG0025026	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		103			56		0	0	1	0	0
NPS	594857	broad.mit.edu	37	10	129347818	129347818	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:129347818C>T	uc001ljx.1	+	1	94	c.74C>T	c.(73-75)cCa>cTa	p.P25L		NM_001030013	NP_001025184	P0C0P6	NPS_HUMAN	Homo sapiens neuropeptide S (NPS), transcript variant 1, mRNA.	25					neuropeptide signaling pathway	extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TGGTGTTATCCAGTTCCATCT	0.343000														66			22		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183728	13183728	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:13183728G>A	uc010obg.2	-	1	388	c.145C>T	c.(145-147)Cat>Tat	p.H49Y		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	49						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										AAGCCCTTATGAACAGAGCAG	0.468000														66			32		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133984069	133984069	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133984069G>A	uc003ytw.3	+	32	6047	c.6006G>A	c.(6004-6006)gcG>gcA	p.A2002A	TG_uc010mdw.3_Silent_p.A761A|TG_uc011ljb.2_Silent_p.A371A|TG_uc011ljc.2_Silent_p.A156A	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2002					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.D2001N(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGTGCGATGCGGACCCATGCT	0.493000														64			17		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185018422	185018422	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:185018422C>T	uc003iwc.3	-	6	1235	c.1093G>A	c.(1093-1095)Ggc>Agc	p.G365S		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	365					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		AGGAAGATGCCCCGCATGTCC	0.592000														80			15		0	0	1	0	0
PRR23A	729627	broad.mit.edu	37	3	138724783	138724783	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:138724783C>T	uc011bms.2	-	0	328	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K		NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN	Homo sapiens proline rich 23A (PRR23A), mRNA.	110										endometrium(3)|kidney(1)|lung(7)	11						CCTGAGCGTTCGTCGACAGAG	0.617000														21			12		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38885838	38885838	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38885838G>A	uc021yzh.1	+	69	10555	c.10446G>A	c.(10444-10446)ggG>ggA	p.G3482G	DNAH8_uc003ooe.2_Silent_p.G3265G|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGTCTGTGGGAATGTGGCTG	0.388000														66			26		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123244952	123244952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:123244952C>T	uc021pzz.1	-	15	2799	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	FGFR2_uc021pzv.1_Missense_Mutation_p.E606K|FGFR2_uc021pzw.1_Missense_Mutation_p.E603K|FGFR2_uc021pzx.1_Missense_Mutation_p.E629K|FGFR2_uc021pzy.1_Missense_Mutation_p.E719K|FGFR2_uc010qtl.2_Missense_Mutation_p.E602K|FGFR2_uc010qtm.2_Missense_Mutation_p.E601K|FGFR2_uc021qaa.1_Missense_Mutation_p.E719K|FGFR2_uc021qab.1_Missense_Mutation_p.E630K|FGFR2_uc021qac.1_Missense_Mutation_p.E647K|FGFR2_uc001lfg.4_Missense_Mutation_p.E326K|FGFR2_uc001lfk.1_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	718	Protein kinase.				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)	CTGTGTCCTTCCTTCAGCAGC	0.537000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					118			50		0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42858582	42858582	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:42858582G>A	uc010skv.2	-	6	1541	c.1254C>T	c.(1252-1254)ctC>ctT	p.L418L	PRICKLE1_uc001rnl.3_Silent_p.L418L|PRICKLE1_uc010skw.2_Silent_p.L418L|PRICKLE1_uc001rnm.3_Silent_p.L418L	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	418					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		ACTTGAGGAGGAGCTGCGTCA	0.438000														38			6		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29049290	29049290	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29049290C>T	uc002kws.3	+	11	1984	c.1875C>T	c.(1873-1875)ctC>ctT	p.L625L		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	625					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCCTGCTGCTCCTTGGTCTCC	0.597000														68			29		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886858	123886858	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123886858G>A	uc010sac.2	+	0	577	c.577G>A	c.(577-579)Gcc>Acc	p.A193T		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A193T(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGACACCTCAGCCAACGTGAT	0.527000														147			93		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108178243	108178243	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108178243C>T	uc003dxa.1	-	18	2103	c.2046G>A	c.(2044-2046)gtG>gtA	p.V682V		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	682	Actin-binding (By similarity).|Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						TTATGCATCTCACAAAATGAG	0.303000														40			14		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88583945	88583945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:88583945G>A	uc003hqv.3	+	5	1119	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	DMP1_uc003hqw.3_Missense_Mutation_p.E323K	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	339					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TCCCAGCAGTGAGTCCAGCCA	0.552000														95			13		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44054630	44054630	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44054630C>T	uc001cjr.3	+	7	1248	c.908C>T	c.(907-909)tCg>tTg	p.S303L	PTPRF_uc001cjs.3_Missense_Mutation_p.S303L|PTPRF_uc001cju.3_5'Flank|PTPRF_uc009vwt.3_5'Flank|PTPRF_uc001cjv.3_5'Flank	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	303	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCATCTCCTCGCTGGGCATG	0.597000														25			8		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139838948	139838948	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:139838948C>T	uc003yvd.3	-	5	1369	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	308	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.K307K(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TACCAGTCTTCCTTCCGAGAG	0.507000										HNSCC(7;0.00092)				55			28		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236925911	236925911	+	Missense_Mutation	SNP	G	A	A	rs142646143		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:236925911G>A	uc001hyf.2	+	20	2881	c.2677G>A	c.(2677-2679)Gat>Aat	p.D893N	ACTN2_uc001hyg.2_Missense_Mutation_p.D685N|ACTN2_uc009xgi.1_Missense_Mutation_p.D893N|ACTN2_uc010pxu.1_Missense_Mutation_p.D582N	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	893					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding	p.D893Y(4)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGGGGAGAGCGATCTGTGATG	0.507000														29			11		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166847761	166847761	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166847761C>T	uc002udo.4	-	27	6251	c.6024G>A	c.(6022-6024)ggG>ggA	p.G2008G	SCN1A_uc010fpk.3_Silent_p.G1980G|SCN1A_uc021vsb.1_Silent_p.G1997G	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	2008						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	tcatttatttCCCTTTGGCTT	0.393000														19			12		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165602	151165602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151165602C>T	uc011bod.2	-	3	2167	c.2167G>A	c.(2167-2169)Gaa>Aaa	p.E723K		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	723					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGTTAATTCCCGATAGTTG	0.493000														46			28		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768403	117768403	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117768403C>T	uc001twn.2	-	1	1183	c.472G>A	c.(472-474)Ggg>Agg	p.G158R	NOS1_uc001twm.2_Missense_Mutation_p.G158R	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	158	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGCTGAGGCCCATTCCCGGGA	0.701000														93			20		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117993041	117993041	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117993041C>T	uc001two.2	-	8	1419	c.1364G>A	c.(1363-1365)cGg>cAg	p.R455Q		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	484					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGTGGCTTCCGTAGAGGGTT	0.502000														22			14		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62299448	62299448	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62299448G>A	uc001dab.3	+	16	2217	c.2103G>A	c.(2101-2103)ttG>ttA	p.L701L	INADL_uc009waf.1_Silent_p.L701L|INADL_uc001daa.2_Silent_p.L701L|INADL_uc001dad.3_Silent_p.L398L|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	701	PDZ 5.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TCAGCATTTTGGATTACCAGG	0.378000														125			25		0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121944331	121944331	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:121944331C>T	uc003vkd.3	-	0	235	c.161G>A	c.(160-162)gGa>gAa	p.G54E	FEZF1_uc003vkc.3_Missense_Mutation_p.G54E|LOC154860_uc010lko.2_Intron	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	54					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GGGTAAGGCTCCCTGCAGGAA	0.597000														117			45		0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119652620	119652620	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:119652620G>A	uc003ici.4	-	20	2991	c.2719C>T	c.(2719-2721)Cgt>Tgt	p.R907C	SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Missense_Mutation_p.R908C|SEC24D_uc003ick.2_Missense_Mutation_p.R69C	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	907					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding	p.R907C(2)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TCAGAGCAACGAACGGCAGCA	0.483000														98			45		0	0	1	0	0
CGREF1	10669	broad.mit.edu	37	2	27324423	27324423	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:27324423C>T	uc010eyr.2	-	4	1047	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	CGREF1_uc010ylf.2_Intron|CGREF1_uc021vez.1_Intron|CGREF1_uc002riq.3_Missense_Mutation_p.E226K|CGREF1_uc021vfa.1_Missense_Mutation_p.E226K|CGREF1_uc010eys.2_Missense_Mutation_p.E226K|CGREF1_uc002rir.2_Missense_Mutation_p.E226K	NM_006569	NP_006560	Q99674	CGRE1_HUMAN	Homo sapiens cell growth regulator with EF-hand domain 1 (CGREF1), transcript variant 1, mRNA.	226					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTGGCCCTCAGCTTCCCCT	0.672000														270			133		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189873680	189873680	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:189873680C>T	uc002uqj.1	+	47	3673	c.3556C>T	c.(3556-3558)Cct>Tct	p.P1186S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1186	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GCAACCAGGCCCTCCTGGACC	0.557000														90			25		0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151259552	151259552	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151259552T>A	uc001exq.3	+	1	883	c.785T>A	c.(784-786)tTc>tAc	p.F262Y	ZNF687_uc001exp.1_Missense_Mutation_p.F271Y|ZNF687_uc009wmo.3_Missense_Mutation_p.F262Y|ZNF687_uc009wmp.3_Missense_Mutation_p.F262Y	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	262	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGGTGCCCTTCTTCAAGCAG	0.622000														124			31		0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114680148	114680148	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:114680148G>A	uc021osa.1	-	2	1118	c.1040C>T	c.(1039-1041)tCc>tTc	p.S347F	SYT6_uc021orz.1_Missense_Mutation_p.S262F|SYT6_uc001eev.3_Missense_Mutation_p.S262F	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	347					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCCAGATGGAGGTTTCCCG	0.522000														66			33		0	0	1	0	0
RAB6C	84084	broad.mit.edu	37	2	130738443	130738443	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:130738443C>T	uc002tpx.1	+	0	1209	c.755C>T	c.(754-756)tCg>tTg	p.S252L	LOC100131320_uc002tpw.1_5'Flank	NM_032144	NP_115520	Q9H0N0	RAB6C_HUMAN	Homo sapiens RAB6C, member RAS oncogene family (RAB6C), mRNA.	252					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					CTGCCTGTCTCGTGGAGGTGA	0.373000														84			31		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77386640	77386640	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77386640C>T	uc004ajl.1	-	24	3753	c.3515G>A	c.(3514-3516)cGa>cAa	p.R1172Q	TRPM6_uc004ajk.1_Missense_Mutation_p.R1167Q|TRPM6_uc022bib.1_Missense_Mutation_p.R1167Q|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.R128Q	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1172					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACTCGGATTCGTTCCTCACA	0.368000														79			7		0	0	1	0	0
PAFAH2	5051	broad.mit.edu	37	1	26311004	26311004	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26311004G>A	uc001bld.4	-	4	537	c.357C>T	c.(355-357)gcC>gcT	p.A119A	PAFAH2_uc001ble.4_Silent_p.A119A	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA.	119					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGCAGAAGGCTGAATACA	0.527000														34			11		0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159707595	159707595	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:159707595G>A	uc003lyb.1	-	2	469	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	CCNJL_uc011dee.1_Missense_Mutation_p.R73C|CCNJL_uc003lyc.1_Non-coding_Transcript|CCNJL_uc011def.1_Missense_Mutation_p.R73C	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	73	Cyclin N-terminal.					nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACGTTGTAGCGATCCATGAAG	0.617000														73			17		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47247088	47247088	+	Nonstop_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:47247088T>C	uc002ion.2	+	10	1758	c.1699T>C	c.(1699-1701)Taa>Caa	p.*567Q	B4GALNT2_uc010wlt.1_Nonstop_Mutation_p.*481Q|B4GALNT2_uc010wlu.1_Nonstop_Mutation_p.*507Q	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	0					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			ATGTGCCGCATAAAGGTGTGA	0.502000														25			13		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46713683	46713684	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46713683_46713684GG>TA	uc003cqa.2	-	22	2673_2674	c.2480_2481CC>TA	c.(2479-2481)tcc>tTA	p.S827L	ALS2CL_uc003cpx.2_Missense_Mutation_p.S174L|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Missense_Mutation_p.S342L|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.S827L	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	827	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCCTGACCAGGGAGTACCTCTG	0.649000														34			9		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137702101	137702101	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:137702101G>A	uc004cfe.3	+	44	3857	c.3475_splice	c.e44-1	p.G1159_splice		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1159	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTTCCCCTAGGGAGAGATCGG	0.567000														70			20		0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10084736	10084736	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:10084736G>A	uc021xlv.1	-	9	1389	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	WDR1_uc021xlw.1_Missense_Mutation_p.S229F|WDR1_uc010idm.3_Non-coding_Transcript	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	369					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		GGTCATCCTGGACACCTGGTT	0.602000														27			13		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752667	36752667	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:36752667G>A	uc001cae.4	+	3	1060	c.836G>A	c.(835-837)aGc>aAc	p.S279N	THRAP3_uc001caf.4_Missense_Mutation_p.S279N|THRAP3_uc001cag.1_Missense_Mutation_p.S279N	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	279	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCACTTTCCAGCACATCCCAG	0.612000			T	USP6	aneurysmal bone cysts									102			44		0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672617	113672617	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:113672617C>T	uc003eau.3	+	2	531	c.232C>T	c.(232-234)Cga>Tga	p.R78*	ZDHHC23_uc003eav.3_Nonsense_Mutation_p.R72*	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	Homo sapiens zinc finger, DHHC-type containing 23 (ZDHHC23), mRNA.	78						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						TGATCGCCTCCGAATTCCTTG	0.453000														113			47		0	0	1	0	0
C20orf3	57136	broad.mit.edu	37	20	24959427	24959427	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:24959427G>A	uc002wtz.3	-	2	405	c.304C>T	c.(304-306)Ccg>Tcg	p.P102S	C20orf3_uc002wty.3_Missense_Mutation_p.P102S|C20orf3_uc010zsw.2_Missense_Mutation_p.P102S	NM_020531	NP_065392	Q9HDC9	APMAP_HUMAN	Homo sapiens chromosome 20 open reading frame 3 (C20orf3), mRNA.	102					biosynthetic process	cell surface|integral to membrane	arylesterase activity|strictosidine synthase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)	21						ATGGACTCCGGTCCAACAAGT	0.537000														59			25		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31133827	31133827	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:31133827G>A	uc002rns.3	-	15	2254	c.1614C>T	c.(1612-1614)atC>atT	p.I538I	GALNT14_uc002rnq.3_Silent_p.I513I|GALNT14_uc010ymr.2_Silent_p.I498I|GALNT14_uc002rnr.3_Silent_p.I533I	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	533	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGTTGACGACGATTTCCTTGC	0.557000														67			27		0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46946496	46946496	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:46946496G>A	uc010acl.3	-	2	720	c.115C>T	c.(115-117)Cct>Tct	p.P39S	KIAA0226L_uc001vbf.4_Intron|KIAA0226L_uc010tfz.2_Intron|KIAA0226L_uc010acn.3_Intron|KIAA0226L_uc010acm.3_Intron|KIAA0226L_uc001vbe.4_Missense_Mutation_p.P39S|KIAA0226L_uc001vbh.4_Missense_Mutation_p.P39S|KIAA0226L_uc001vbi.4_Intron|KIAA0226L_uc010aco.1_Missense_Mutation_p.P39S	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	39								p.P38S(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AATTGGCAAGGAGGATGGTCA	0.542000														30			8		0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73839265	73839265	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73839265G>A	uc002jpp.3	-	2	616	c.236C>T	c.(235-237)tCt>tTt	p.S79F	UNC13D_uc010wsk.1_Missense_Mutation_p.S79F|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_5'Flank	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	79					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGCAGCTCAGAGGCCTCCGT	0.672000									Familial Hemophagocytic Lymphohistiocytosis					39			21		0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102951139	102951139	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:102951139G>A	uc003hvy.4	+	9	1891	c.1617G>A	c.(1615-1617)atG>atA	p.M539I	BANK1_uc003hvx.4_Missense_Mutation_p.M524I|BANK1_uc010ill.3_Missense_Mutation_p.M406I|BANK1_uc003hvz.4_Missense_Mutation_p.M509I	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	539					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAGGCCAAATGGAAAGAAGTC	0.398000														72			28		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136113	40136113	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:40136113C>T	uc021qgf.1	-	0	1730	c.1730G>A	c.(1729-1731)gGa>gAa	p.G577E	LRRC4C_uc001mxc.1_Missense_Mutation_p.G573E|LRRC4C_uc001mxd.1_Missense_Mutation_p.G573E|LRRC4C_uc001mxa.1_Missense_Mutation_p.G577E|LRRC4C_uc001mxb.1_Missense_Mutation_p.G573E	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	577					regulation of axonogenesis	integral to membrane	protein binding	p.T576K(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGGTGTGTCTCCCGTAATCTC	0.458000														58			60		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55956220	55956220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:55956220C>T	uc003has.3	-	22	3397	c.3095G>A	c.(3094-3096)cGa>cAa	p.R1032Q	KDR_uc003hat.1_Missense_Mutation_p.R1032Q	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1032	Protein kinase.				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.R1032Q(4)|p.R1032*(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)	GAGGATATTTCGTGCCGCCAG	0.448000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				89			28		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130407850	130407850	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:130407850C>T	uc004ewe.4	-	19	4229	c.3946G>A	c.(3946-3948)Gaa>Aaa	p.E1316K	IGSF1_uc004ewd.3_Missense_Mutation_p.E1311K|IGSF1_uc022cdv.1_Missense_Mutation_p.E1302K|IGSF1_uc004ewf.2_Missense_Mutation_p.E1291K	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1311					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGTTCTCCTTCTTGGTTACAC	0.463000														48			89		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38103775	38103775	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38103775C>T	uc003chp.1	+	3	810	c.789C>T	c.(787-789)ttC>ttT	p.F263F	DLEC1_uc003cho.1_Silent_p.F263F|DLEC1_uc010hgv.1_Silent_p.F263F|DLEC1_uc010hgw.1_5'Flank|DLEC1_uc003chq.1_5'Flank	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	263					negative regulation of cell proliferation	cytoplasm		p.F263F(3)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTGCTGAGTTCGAAGATGAGT	0.453000														67			26		0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	57005376	57005376	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57005376G>A	uc001slq.1	-	6	1851	c.1657C>T	c.(1657-1659)Cgt>Tgt	p.R553C	BAZ2A_uc001slp.1_Missense_Mutation_p.R551C|BAZ2A_uc009zow.1_Missense_Mutation_p.R521C	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	553	MBD.				DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGGGGAAGACGAACTTCTTCT	0.418000														29			12		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28659848	28659848	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28659848C>T	uc002kwl.4	-	10	2082	c.1628G>A	c.(1627-1629)gGc>gAc	p.G543D	DSC2_uc002kwk.4_Missense_Mutation_p.G543D	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	543	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATTATATATGCCATTTTTGAT	0.388000														161			65		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404038	20404038	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20404038C>T	uc001vwj.2	+	0	272	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TCATTGATATCTGTCAGTCTA	0.393000														127			53		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56419205	56419205	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56419205C>T	uc010ygg.2	-	6	2425	c.2400G>A	c.(2398-2400)ctG>ctA	p.L800L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	800							ATP binding	p.L800M(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTTTAAGAATCAGGGGGACAG	0.498000														87			40		0	0	1	0	0
DNALI1	7802	broad.mit.edu	37	1	38027255	38027255	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:38027255G>A	uc001cbj.3	+	3	571	c.561G>A	c.(559-561)caG>caA	p.Q187Q	DNALI1_uc010oie.2_Non-coding_Transcript	NM_003462	NP_003453	O14645	IDLC_HUMAN	Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.	165					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	p.Y186C(1)		breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCTACCAGACCCTGTACG	0.597000											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			17		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2813223	2813223	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2813223G>A	uc022aqr.1	-	63	10272	c.9882C>T	c.(9880-9882)ttC>ttT	p.F3294F	CSMD1_uc011kwj.2_Silent_p.F2624F|CSMD1_uc010lrg.3_Silent_p.F1186F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3295	Sushi 28.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGTGTAGCCGAAAGTAGGAA	0.502000														82			22		0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2473276	2473276	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:2473276C>T	uc003smc.3	+	1	1165	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	CHST12_uc003smd.3_Silent_p.I334I|CHST12_uc021zyu.1_Silent_p.I334I|CHST12_uc021zyv.1_Silent_p.I334I	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	334					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CGTGCCAGATCGACTACGACT	0.657000														58			7		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176671814	176671814	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176671814C>T	uc001gkz.3	+	8	4472	c.3308C>T	c.(3307-3309)tCg>tTg	p.S1103L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1103					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.S1103L(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAGAAGCTTCGCCTCCTCTG	0.493000														80			24		0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38775237	38775237	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:38775237C>T	uc003gtj.3	-	3	2613	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	TLR10_uc021xnk.1_Missense_Mutation_p.E645K|TLR10_uc003gti.3_Missense_Mutation_p.E659K|TLR10_uc021xnl.1_Missense_Mutation_p.E659K|TLR10_uc003gtk.3_Missense_Mutation_p.E659K|TLR10_uc021xnm.1_Missense_Mutation_p.E659K	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	659	TIR.				MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GAACCATCTTCCTTCTCTAGA	0.368000														71			26		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110835594	110835594	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:110835594G>A	uc001vqw.4	-	26	2049	c.1927C>T	c.(1927-1929)Cct>Tct	p.P643S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	643	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGGTAAAGGAACAATTTTT	0.547000														29			6		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900372	151900372	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151900372G>A	uc022chj.1	-	0	429	c.429C>T	c.(427-429)ttC>ttT	p.F143F	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.F143F|MAGEA12_uc022chi.1_Silent_p.F143F|MAGEA12_uc004fgc.3_Silent_p.F143F|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	143	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGTCCTGGAAATTTCTGA	0.507000														66			100		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317795	30317795	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:30317795C>T	uc009xle.2	-	2	1419	c.1282G>A	c.(1282-1284)Gat>Aat	p.D428N	KIAA1462_uc001iux.3_Missense_Mutation_p.D428N|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.D290N	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	428										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AACCGTGGATCATCAAAGGGA	0.507000														110			36		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91726016	91726016	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:91726016C>T	uc003ulg.3	+	40	9968	c.9743C>T	c.(9742-9744)tCa>tTa	p.S3248L	AKAP9_uc003ulf.3_Missense_Mutation_p.S3240L|AKAP9_uc003uli.3_Missense_Mutation_p.S2871L|AKAP9_uc003ulj.3_Missense_Mutation_p.S1018L|AKAP9_uc003ull.3_Missense_Mutation_p.S144L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3252					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGAAGTTTTCACTTGAGAGT	0.383000			T	BRAF	papillary thyroid									24			52		0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25273813	25273813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:25273813C>T	uc001isg.1	-	4	781	c.616G>A	c.(616-618)Gag>Aag	p.E206K	ENKUR_uc001ish.1_Missense_Mutation_p.E144K	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	Homo sapiens enkurin, TRPC channel interacting protein (ENKUR), mRNA.	206						cilium|flagellum	SH3 domain binding|calmodulin binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TTATGCACCTCTTCCCAGTTC	0.393000														48			19		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21478756	21478757	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:21478756_21478757GG>AA	uc002kuq.3	+	44	5754_5755	c.5668_5669GG>AA	c.(5668-5670)ggc>AAc	p.G1890N	LAMA3_uc002kur.3_Missense_Mutation_p.G1890N|LAMA3_uc002kus.4_Missense_Mutation_p.G281N|LAMA3_uc002kut.4_Missense_Mutation_p.G281N	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1890	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAAATAGAAGGCCTGGAAAGA	0.347000														91			25		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228525070	228525070	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228525070G>A	uc009xez.1	+	65	16830	c.16786G>A	c.(16786-16788)Gat>Aat	p.D5596N	OBSCN_uc001hsn.3_Missense_Mutation_p.D5596N|OBSCN_uc001hsr.1_Missense_Mutation_p.D224N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5596					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAGGACGGCGATGCCCGAGG	0.642000														12			4		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124117716	124117716	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124117716G>A	uc003ehg.3	+	12	2465	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	KALRN_uc010hrv.1_Missense_Mutation_p.E780K|KALRN_uc003ehf.1_Missense_Mutation_p.E780K|KALRN_uc011bjy.1_Missense_Mutation_p.E780K|KALRN_uc003ehh.1_Missense_Mutation_p.E126K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	780					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTACACCATCGAGGTAGCAGG	0.592000														55			5		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886286	123886286	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123886286C>T	uc010sac.2	+	0	5	c.5C>T	c.(4-6)tCc>tTc	p.S2F		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAAGAAATGTCCAACGCCAGC	0.512000														100			17		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36150108	36150108	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:36150108G>A	uc003gsq.2	-	16	3257	c.2919C>T	c.(2917-2919)atC>atT	p.I973I		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	973	PH 3.				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						AGGGTAAGTAGATCTCAAAGA	0.328000														42			15		0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131186709	131186710	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:131186709_131186710GG>AA	uc003qch.2	-	16	2977_2978	c.2795_2796CC>TT	c.(2794-2796)tcc>tTT	p.S932F	EPB41L2_uc003qce.1_Missense_Mutation_p.S310F|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc010kfl.2_Missense_Mutation_p.S779F|EPB41L2_uc003qcg.1_Missense_Mutation_p.S674F|EPB41L2_uc003qci.3_Missense_Mutation_p.S779F|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_Missense_Mutation_p.S93F	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	932	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	p.S932F(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTGTTGACACGGACTCAGATGT	0.455000														48			20		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229530	3229530	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:3229530C>T	uc004crg.4	-	6	6871	c.6714G>A	c.(6712-6714)gtG>gtA	p.V2238V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2238	Ig-like C2-type 6.					extracellular region				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)				GTTTCATCACCACATCCACTT	0.527000														34			39		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90500456	90500456	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90500456G>A	uc004app.4	+	3	1089	c.1054G>A	c.(1054-1056)Ggt>Agt	p.G352S	FAM75E1_uc004apo.1_Missense_Mutation_p.G164S	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	352						integral to membrane											CATGGAGGTAGGTGGCTGCAC	0.562000														39			23		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221482	59221482	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:59221482G>A	uc010dps.1	+	10	2112	c.1960G>A	c.(1960-1962)Gac>Aac	p.D654N	CDH20_uc002lif.2_Missense_Mutation_p.D648N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	654					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)				CATCATCGACGACGAGGAAAA	0.577000														147			47		0	0	1	0	0
OR7A17	26333	broad.mit.edu	37	19	14991526	14991526	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:14991526G>A	uc010xob.2	-	0	642	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_030901	NP_112163	O14581	OR7AH_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AAGAGCAAAGGATCCCCACAA	0.488000														124			44		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62887153	62887153	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:62887153G>A	uc003peg.2	-	1	403	c.156C>T	c.(154-156)gtC>gtT	p.V52V		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGTTGCTGATGACATCAAGAT	0.328000														32			14		0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808752	77808752	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:77808752G>A	uc002jxe.3	-	4	852	c.689C>T	c.(688-690)cCc>cTc	p.P230L		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	230	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CATTCCGTTGGGGGGGCCCTT	0.642000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		118			46		0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459677	92459677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:92459677C>T	uc002bqx.2	+	1	836	c.635C>T	c.(634-636)tCg>tTg	p.S212L	SLCO3A1_uc002bqy.2_Missense_Mutation_p.S212L|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.S154L	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	212					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			AAGGACTCCTCGCTCTATATA	0.587000														22			3		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29598859	29598859	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29598859G>A	uc001usl.4	+	0	112	c.54G>A	c.(52-54)aaG>aaA	p.K18K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	8						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGGCTCCTAAGAAATCATGTT	0.448000														90			22		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33584242	33584242	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33584242G>A	uc002xbi.2	+	28	3480	c.3163G>A	c.(3163-3165)Gcc>Acc	p.A1055T		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1013						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCACCAACAGGCCCTGGGTGA	0.657000														17			18		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175409	51175409	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:51175409G>A	uc021tif.1	-	1	755	c.433C>T	c.(433-435)Cac>Tac	p.H145Y	SALL1_uc021tid.1_Missense_Mutation_p.H145Y|SALL1_uc021tie.1_Missense_Mutation_p.H242Y|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	242					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCAGCTGGTGGATCTGCTGC	0.547000														121			25		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83023654	83023654	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:83023654C>T	uc003uhy.2	-	13	2080	c.1459_splice	c.e13-1	p.D487_splice	SEMA3E_uc022agy.1_Splice_Site_p.D427_splice	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	487	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.D487Y(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GGAACTGGATCCTGAAATTTT	0.318000														38			16		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141709478	141709478	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141709478G>A	uc002tvj.1	-	18	3891	c.2919C>T	c.(2917-2919)ttC>ttT	p.F973F	LRP1B_uc010fnl.1_Silent_p.F155F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	973	LDL-receptor class A 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTGCATACGAATTGGGTTA	0.418000										TSP Lung(27;0.18)				52			19		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120572392	120572392	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:120572392G>A	uc001txo.3	-	51	7160	c.7147C>T	c.(7147-7149)Ccc>Tcc	p.P2383S		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2383					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGAAGAGGGGGTCCACCTTA	0.627000														49			27		0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130488626	130488626	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130488626T>G	uc004brq.1	+	9	1435	c.1368T>G	c.(1366-1368)atT>atG	p.I456M	PTRH1_uc011mah.2_5'Flank|TTC16_uc011mai.1_Missense_Mutation_p.I443M|TTC16_uc004brr.1_Missense_Mutation_p.F354C|TTC16_uc010mxn.1_Missense_Mutation_p.I52M	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	456							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGCAGAACATTTTTGGGGCCC	0.607000														60			6		0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30133195	30133195	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30133195G>A	uc002dws.3	-	1	403	c.303C>T	c.(301-303)atC>atT	p.I101I	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_5'UTR|MAPK3_uc002dwv.4_Silent_p.I101I|MAPK3_uc002dwt.3_Silent_p.I101I	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	101	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding 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|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	CTCGGATGCCGATGACATTCT	0.602000														16			14		0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39817998	39817998	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:39817998C>T	uc001wvi.4	+	22	2416	c.2080C>T	c.(2080-2082)Cct>Tct	p.P694S	CTAGE5_uc001wuy.4_Missense_Mutation_p.P609S|CTAGE5_uc001wuz.4_Missense_Mutation_p.P677S|CTAGE5_uc001wva.4_Missense_Mutation_p.P660S|CTAGE5_uc001wvb.4_Missense_Mutation_p.P617S|CTAGE5_uc001wvc.4_Missense_Mutation_p.P591S|CTAGE5_uc001wvf.4_Missense_Mutation_p.P614S|CTAGE5_uc001wvg.4_Missense_Mutation_p.P689S|CTAGE5_uc001wvh.4_Missense_Mutation_p.P646S|CTAGE5_uc010amz.3_Missense_Mutation_p.P305S|CTAGE5_uc001wvj.4_Missense_Mutation_p.P660S	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	689	Pro-rich.						enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AGCCACTGGCCCTGGCTTTGT	0.463000														360			47		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41055511	41055511	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:41055511C>T	uc004dfb.3	+	26	4618	c.3985C>T	c.(3985-3987)Cgt>Tgt	p.R1329C	USP9X_uc004dfc.3_Missense_Mutation_p.R1329C	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1329					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						CAGAACTGTTCGTCAGGTGGC	0.398000														39			52		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128651888	128651888	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:128651888G>A	uc010sbu.2	+	4	968	c.625G>A	c.(625-627)Gac>Aac	p.D209N	FLI1_uc010sbt.2_Missense_Mutation_p.D16N|FLI1_uc010sbv.2_Missense_Mutation_p.D176N|FLI1_uc009zci.3_Missense_Mutation_p.D143N	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	209					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CTCCCACACCGACCAATCCTC	0.413000			T	EWSR1	Ewing sarcoma									89			34		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39884993	39884993	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:39884993G>A	uc001zkh.3	+	16	2936	c.2757G>A	c.(2755-2757)aaG>aaA	p.K919K	THBS1_uc010bbi.3_Silent_p.K391K	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	919					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CCGACCAGAAGGACTCTGACG	0.502000														39			7		0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402960	248402960	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248402960C>T	uc010pzh.2	+	0	730	c.730C>T	c.(730-732)Cac>Tac	p.H244Y		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			CTGCTCCTCCCACCTGTCTGT	0.517000														64			16		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760756	92760756	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92760756C>T	uc003umh.1	-	4	5745	c.4529G>A	c.(4528-4530)gGg>gAg	p.G1510E	SAMD9L_uc003umj.1_Missense_Mutation_p.G1510E|SAMD9L_uc003umi.1_Missense_Mutation_p.G1510E|SAMD9L_uc010lfb.1_Missense_Mutation_p.G1510E|SAMD9L_uc003umk.1_Missense_Mutation_p.G1510E|SAMD9L_uc010lfc.1_Missense_Mutation_p.G1510E|SAMD9L_uc010lfd.1_Missense_Mutation_p.G1510E|SAMD9L_uc022ahh.1_Missense_Mutation_p.G1510E	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1510										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCACACATCCCCACTGTGCCA	0.418000														85			41		0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78758726	78758726	+	Missense_Mutation	SNP	G	A	A	rs143720317		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:78758726G>A	uc002bdr.2	+	4	686	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.3_Missense_Mutation_p.R175Q	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	175							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		ACTACCTGCCGAGGATCTTGT	0.498000														60			46		0	0	1	0	0
SAMD12	401474	broad.mit.edu	37	8	119391794	119391794	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:119391794G>A	uc003yom.2	-	3	597	c.468C>T	c.(466-468)acC>acT	p.T156T	SAMD12_uc010mda.1_Intron|SAMD12_uc010mdb.1_Intron	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	156										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			GAAGCAATAGGGTACCTTGTG	0.473000														62			17		0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44015303	44015303	+	Silent	SNP	C	T	T	rs61732298		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:44015303C>T	uc002lcb.1	+	2	480	c.429C>T	c.(427-429)ttC>ttT	p.F143F	RNF165_uc002lby.1_Silent_p.F76F|RNF165_uc010dnn.1_Intron	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	143							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		ATCCCAGCTTCGACTTCGGCC	0.642000														57			17		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17668880	17668880	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17668880G>A	uc001baj.2	+	7	946	c.918G>A	c.(916-918)caG>caA	p.Q306Q	PADI4_uc009vpc.2_Silent_p.Q306Q	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	306					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGCCCCCGCAGGAGGTGTACG	0.642000														43			15		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181701992	181701992	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181701992C>T	uc009wxt.3	+	19	2965	c.2770C>T	c.(2770-2772)Cgc>Tgc	p.R924C	CACNA1E_uc001gow.3_Missense_Mutation_p.R924C|CACNA1E_uc009wxs.3_Missense_Mutation_p.R905C|CACNA1E_uc001gox.1_Missense_Mutation_p.R150C	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	924					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						CAGCCGGCATCGCCGCGTCAG	0.647000														116			34		0	0	1	0	0
TBCCD1	55171	broad.mit.edu	37	3	186274254	186274254	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:186274254G>A	uc003fqg.3	-	3	932	c.803C>T	c.(802-804)cCa>cTa	p.P268L	TBCCD1_uc011bry.2_Missense_Mutation_p.P268L|TBCCD1_uc003fqh.3_Missense_Mutation_p.P172L	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.	268					cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TGTACCAAATGGATTCCCAGT	0.388000														61			31		0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502456	91502456	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:91502456G>A	uc001tbm.3	-	1	690	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	101				L -> V (in Ref. 1; AAA85268).	collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTTTCTAGAAGGTTGTGATCT	0.388000														54			23		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40357749	40357749	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40357749G>A	uc002omp.4	-	33	15572	c.15564C>T	c.(15562-15564)tcC>tcT	p.S5188S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5188	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGTCAGCAGGGAGGAGTTTA	0.572000														28			16		0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47777887	47777887	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:47777887C>T	uc002lee.2	-	3	832	c.741G>A	c.(739-741)gcG>gcA	p.A247A		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	247										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GCAGCTGTGTCGCCTGCCTTT	0.557000														66			28		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130797667	130797667	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:130797667G>A	uc003kvn.2	-	18	2801	c.2595C>T	c.(2593-2595)gcC>gcT	p.A865A	RAPGEF6_uc003kvp.2_Silent_p.A915A|RAPGEF6_uc003kvo.2_Silent_p.A870A|RAPGEF6_uc010jdi.2_Silent_p.A865A|RAPGEF6_uc010jdj.2_Silent_p.A865A|RAPGEF6_uc003kvq.3_Silent_p.A582A|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Silent_p.A865A	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	865	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ACAGCTGGGTGGCCACCTCAA	0.403000														76			30		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509476	71509476	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71509476G>A	uc011caw.1	+	8	2614	c.2333G>A	c.(2332-2334)aGa>aAa	p.R778K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	778					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAGAGAGAAAGAAGGCCGTAT	0.473000														72			25		0	0	1	0	0
SPDYE5	442590	broad.mit.edu	37	7	75130905	75130905	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:75130905G>A	uc011kfy.2	+	5	916	c.780G>A	c.(778-780)agG>agA	p.R260R	DQ601342_uc022agh.1_5'Flank	NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA.	260	Arg-rich.																CGAGGGCCAGGAAGAACCGCT	0.592000														281			97		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168112740	168112740	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:168112740C>T	uc010jjg.3	-	30	3948	c.3528G>A	c.(3526-3528)gtG>gtA	p.V1176V	SLIT3_uc003mab.3_Silent_p.V1169V	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1169	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGCCAGTTCCACGTAGGAGT	0.642000														58			22		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909307	123909307	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123909307C>T	uc001pzq.1	-	0	402	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCCCAGTCATCATGTTGGTGT	0.542000														206			67		0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634297	180634297	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:180634297C>T	uc002unn.4	-	2	790	c.186G>A	c.(184-186)gtG>gtA	p.V62V		NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	62						nucleus	nucleic acid binding|zinc ion binding	p.R61*(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TCAGCTGCTTCACTCGTTTGC	0.597000														43			22		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58111348	58111348	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58111348C>T	uc003djj.2	+	22	4104	c.3939C>T	c.(3937-3939)atC>atT	p.I1313I	FLNB_uc010hne.2_Silent_p.I1313I|FLNB_uc003djk.2_Silent_p.I1313I|FLNB_uc010hnf.2_Silent_p.I1313I|FLNB_uc003djl.2_Silent_p.I1144I|FLNB_uc003djm.2_Silent_p.I1144I	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1313	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACGTGCCTATCCCAAACAGTC	0.473000														85			38		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235969221	235969221	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:235969221G>A	uc001hxj.2	-	5	3390	c.3215C>T	c.(3214-3216)tCc>tTc	p.S1072F	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.S1072F	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1072					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CACATTTATGGAAGAAATATG	0.383000														65			43		0	0	1	0	0
PGM5P2	595135	broad.mit.edu	37	9	69113627	69113627	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:69113627C>T	uc004aff.4	-	4		c.1027G>A								Homo sapiens phosphoglucomutase 5 pseudogene 2 (PGM5P2), non-coding RNA.																		CCATATTCTCCTCCTTTCATT	0.458000														60			6		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18729931	18729932	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:18729931_18729932CC>TT	uc003wza.3	-	2	545_546	c.442_443GG>AA	c.(442-444)gga>AAa	p.G148K		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	148					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTGTAATGTTCCGGAAATGATT	0.455000														154			21		0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151230975	151230975	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:151230975G>A	uc003lut.3	-	6	1175	c.888C>T	c.(886-888)tcC>tcT	p.S296S	GLRA1_uc003lur.3_Silent_p.S296S|GLRA1_uc003lus.3_Silent_p.S213S	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	296					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTCGAGAGCCGGAGCTCTGGG	0.542000														44			21		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111398117	111398117	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:111398117G>A	uc003iab.4	+	0	889	c.547G>A	c.(547-549)Gat>Aat	p.D183N		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	183					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CAGCAGTGGAGATGGCCTGTA	0.572000														93			40		0	0	1	0	0
SLC39A3	29985	broad.mit.edu	37	19	2733206	2733206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:2733206G>A	uc010xgy.1	-	2	742	c.488C>T	c.(487-489)tCg>tTg	p.S163L	SLC39A3_uc002lwg.3_Missense_Mutation_p.S163L	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA.	163						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		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)		GCTGGCGCGCGAGAGGCCCTG	0.731000														35			15		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87556463	87556463	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:87556463G>A	uc003hpz.3	+	1	534	c.54G>A	c.(52-54)gaG>gaA	p.E18E	PTPN13_uc003hpy.3_Silent_p.E18E|PTPN13_uc003hqa.3_Silent_p.E18E|PTPN13_uc003hqb.3_Silent_p.E18E	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	18	KIND.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CACTTCAGGAGGAAGAAATAT	0.453000														9			6		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80623121	80623121	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:80623121C>T	uc001szd.3	+	6	553	c.547C>T	c.(547-549)Cga>Tga	p.R183*		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGAGGAAATTCGAATTTATGG	0.348000														46			24		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965699	35965699	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35965699G>A	uc003jjv.2	-	3	825	c.632C>T	c.(631-633)tCc>tTc	p.S211F	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.S211F|UGT3A1_uc011cor.2_Missense_Mutation_p.S177F|UGT3A1_uc003jjy.2_Missense_Mutation_p.S157F	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	211						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGGCTCCTGGAGAAACTAAA	0.463000														79			45		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69949067	69949067	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:69949067C>T	uc010kak.3	+	18	3039	c.2763C>T	c.(2761-2763)atC>atT	p.I921I	BAI3_uc003pev.4_Silent_p.I921I|BAI3_uc011dxx.2_Silent_p.I127I	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	921					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCCTGTCTATCATCTCATCCA	0.353000														97			48		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43971011	43971011	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:43971011T>C	uc010yny.2	+	22	3521	c.3438T>C	c.(3436-3438)ttT>ttC	p.F1146F		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	1146	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding	p.E1145*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGGAAGAATTTTTGAATACTT	0.388000														79			19		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897995	175897995	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:175897995G>A	uc003iuc.3	+	4	1989	c.1319G>A	c.(1318-1320)gGg>gAg	p.G440E	ADAM29_uc003iud.3_Missense_Mutation_p.G440E|ADAM29_uc010irr.3_Missense_Mutation_p.G440E|ADAM29_uc011cki.2_Missense_Mutation_p.G440E|ADAM29_uc021xuo.1_Missense_Mutation_p.G440E	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	440	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTGCTTTTGGGCTTTGTTGC	0.448000														83			16		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3265441	3265441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:3265441C>T	uc022aqr.1	-	13	2441	c.2051G>A	c.(2050-2052)gGg>gAg	p.G684E	CSMD1_uc011kwj.2_Missense_Mutation_p.G77E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	685	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GATGTTGAACCCTCTGCCAGT	0.448000														11			5		0	0	1	0	0
SERINC2	347735	broad.mit.edu	37	1	31896549	31896549	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:31896549C>T	uc021okm.1	+	2	349	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	SERINC2_uc010ogg.2_Missense_Mutation_p.L21F|SERINC2_uc009vtw.1_Missense_Mutation_p.L17F|SERINC2_uc001bst.3_Missense_Mutation_p.L17F|SERINC2_uc001bsu.3_5'UTR|SERINC2_uc010ogh.2_Missense_Mutation_p.L21F	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	17						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GGCGTCCTGCCTCTGCGGCTC	0.672000														44			5		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6174883	6174883	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:6174883G>A	uc003mwv.3	-	11	1800	c.1677C>T	c.(1675-1677)acC>acT	p.T559T	F13A1_uc011dib.2_Silent_p.T496T	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	559					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CGGTGTAGAAGGTGATGTTGG	0.502000														151			20		0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407740	1407740	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:1407740C>T	uc010nct.2	+	6	754	c.432C>T	c.(430-432)gcC>gcT	p.A144A	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.A144A|CSF2RA_uc004cpq.2_Silent_p.A144A|CSF2RA_uc004cpn.2_Silent_p.A144A|CSF2RA_uc004cpo.2_Silent_p.A144A|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Silent_p.A11A|CSF2RA_uc004cpp.2_Silent_p.A144A|CSF2RA_uc010ncv.2_Silent_p.A144A|CSF2RA_uc004cpr.2_Silent_p.A144A	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	144						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTCCGACGGCCCCCCGTGACG	0.473000														152			31		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228467761	228467761	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228467761C>T	uc009xez.1	+	27	7680	c.7636C>T	c.(7636-7638)Cac>Tac	p.H2546Y	OBSCN_uc001hsn.3_Missense_Mutation_p.H2546Y|OBSCN_uc001hsp.1_Missense_Mutation_p.H245Y|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2546	Ig-like 24.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGCAGTGCCCACAGCAGCAC	0.617000														13			5		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116930445	116930446	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116930445_116930446CC>TT	uc011lxl.2	+	2	610_611	c.610_611CC>TT	c.(610-612)ccg>TTg	p.P204L	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Missense_Mutation_p.P54L	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	204	Laminin G-like.|TSP N-terminal.				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						GAAGATGAACCCGCATGCAGTC	0.599000														50			20		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63674401	63674401	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:63674401C>T	uc011kdn.2	+	2	177	c.177C>T	c.(175-177)gtC>gtT	p.V59V		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										GTATGACTGTCTCTAAGCCAG	0.388000														55			20		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13870993	13870993	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13870993G>A	uc003jfd.2	-	23	3759	c.3717C>T	c.(3715-3717)ttC>ttT	p.F1239F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1239	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)					GTTTCTTATTGAATTCTTCAA	0.398000									Kartagener syndrome					79			29		0	0	1	0	0
RNF169	254225	broad.mit.edu	37	11	74500681	74500681	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:74500681C>T	uc001ovl.4	+	1	526	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	Homo sapiens ring finger protein 169 (RNF169), mRNA.	171							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ACTTTATATTCAGAGCACCAA	0.343000														137			11		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140265500	140265500	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:140265500G>A	uc003etn.3	+	9	1841	c.1651G>A	c.(1651-1653)Gaa>Aaa	p.E551K	CLSTN2_uc003etm.2_Missense_Mutation_p.E551K	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	551					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TAATTCCTTGGAAAGCCTTGG	0.557000										HNSCC(16;0.037)				21			11		0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71360216	71360216	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:71360216G>A	uc011mqa.2	+	5	2818	c.2818G>A	c.(2818-2820)Gag>Aag	p.E940K	NHSL2_uc004eak.1_Missense_Mutation_p.E574K|NHSL2_uc010nli.2_Missense_Mutation_p.E709K	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	940										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					AAGCCCAGGGGAGTCAACAGC	0.542000														12			18		0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97851545	97851545	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:97851545G>A	uc011bgt.2	+	0	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M1T(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TGAGGACATGGAAGAGGAAAA	0.398000														147			62		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108117798	108117798	+	Missense_Mutation	SNP	C	T	T	rs138398778		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:108117798C>T	uc001pkb.1	+	7	1394	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ATM_uc009yxr.1_Missense_Mutation_p.R337C	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).		DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.R337C(6)|p.R337S(4)|p.F336_A340del(2)|p.R337H(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTCAGGATTTCGTAATATTGC	0.323000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				51			16		0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997547	46997547	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46997547C>T	uc002pes.2	-	0	1623	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	392										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CGCGGCCCGCCTCTTCCACCT	0.672000														30			6		0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52825349	52825349	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52825349C>T	uc010ydl.2	+	4	916	c.846C>T	c.(844-846)acC>acT	p.T282T	ZNF480_uc002pyv.3_Silent_p.T205T|ZNF480_uc010ydm.2_Silent_p.T239T|ZNF480_uc010epn.3_Silent_p.T113T|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GAATTCATACCAGAGAGAAGC	0.348000														44			14		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22616535	22616535	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22616535C>T	uc001wdg.1	+	0	230	c.23C>T	c.(22-24)tCc>tTc	p.S8F	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_uc010ajk.2_Silent_p.L92L|TCRA_uc021rpt.1_Missense_Mutation_p.S8F					RecName: Full=T-cell receptor alpha chain C region;																		ACAGTTCTCTCCACATCACTG	0.542000														60			23		0	0	1	0	0
SH3BGRL3	83442	broad.mit.edu	37	1	26607282	26607282	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26607282C>T	uc001blu.3	+	1	509	c.75C>T	c.(73-75)acC>acT	p.T25T		NM_031286	NP_112576	Q9H299	SH3L3_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein like 3 (SH3BGRL3), mRNA.	25	Glutaredoxin.				cell redox homeostasis	cytoplasm|nucleus	electron carrier activity|protein disulfide oxidoreductase activity						all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649)		GCGAGGTGACCCGAATCCTGG	0.587000														82			14		0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607929	68607929	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:68607929C>T	uc002sen.4	+	2	435	c.273C>T	c.(271-273)gcC>gcT	p.A91A	PLEK_uc010fde.3_Silent_p.A91A	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	91	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGAGAGATGCCTGGGTTCGGG	0.468000														143			68		0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273455	125273455	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125273455C>T	uc011lyv.2	+	0	375	c.375C>T	c.(373-375)gcC>gcT	p.A125A	OR1J2_uc004bmj.2_Silent_p.A125A	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GATATGTTGCCATATGTCACC	0.423000														84			19		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57430138	57430138	+	Missense_Mutation	SNP	G	A	A	rs143613424	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57430138G>A	uc001smw.4	-	21	2542	c.2302C>T	c.(2302-2304)Cgg>Tgg	p.R768W	MYO1A_uc010sqz.2_Missense_Mutation_p.R606W|MYO1A_uc009zpd.3_Missense_Mutation_p.R768W	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	768	IQ 3.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GCCTCTGACCGGAAATATTTG	0.468000														154			49		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38639232	38639232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38639232C>T	uc021wvo.1	-	12	2302	c.2250G>A	c.(2248-2250)caG>caA	p.Q750Q	SCN5A_uc021wvk.1_Silent_p.Q750Q|SCN5A_uc021wvl.1_Silent_p.Q750Q|SCN5A_uc021wvm.1_Silent_p.Q750Q|SCN5A_uc021wvn.1_Silent_p.Q750Q|SCN5A_uc021wvp.1_Silent_p.Q750Q|SCN5A_uc021wvq.1_Silent_p.Q750Q|SCN5A_uc021wvr.1_Silent_p.Q750Q|SCN5A_uc021wvs.1_Silent_p.Q750Q|SCN5A_uc021wvt.1_Silent_p.Q750Q|SCN5A_uc021wvu.1_Silent_p.Q750Q|SCN5A_uc021wvv.1_Silent_p.Q750Q|SCN5A_uc021wvj.1_Silent_p.Q616Q|SCN5A_uc021wvi.1_Silent_p.Q616Q|SCN5A_uc021wvw.1_Silent_p.Q361Q	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	750					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGTTTCCGACCTGCAGCATCT	0.552000														46			13		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38743485	38743485	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38743485C>T	uc003ciq.3	-	25	4502	c.4502G>A	c.(4501-4503)aGt>aAt	p.S1501N		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1501					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTTTTCTTCACTTTGGTCATC	0.448000														70			30		0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6477836	6477836	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6477836G>A	uc001mdh.3	-	6	1516	c.1120C>T	c.(1120-1122)Ctt>Ttt	p.L374F	TRIM3_uc001mdi.3_Missense_Mutation_p.L374F|TRIM3_uc010raj.2_Missense_Mutation_p.L255F|TRIM3_uc009yfd.3_Missense_Mutation_p.L374F|TRIM3_uc010rak.1_Missense_Mutation_p.L374F|TRIM3_uc001mdj.2_Missense_Mutation_p.L255F	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	374					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCACCGGAAGGCGCGTGCCG	0.632000														41			13		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92428405	92428405	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:92428405C>A	uc001dol.4	+	2	512	c.94C>A	c.(94-96)Ctt>Att	p.L32I	BRDT_uc010osz.2_Missense_Mutation_p.L32I|BRDT_uc001dok.4_Missense_Mutation_p.L32I|BRDT_uc009wdf.3_Intron|BRDT_uc010otb.2_Missense_Mutation_p.L32I|BRDT_uc010ota.2_Missense_Mutation_p.L32I|BRDT_uc001dom.4_Missense_Mutation_p.L32I	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GACAAATCAACTTCAGTATCT	0.383000														176			18		3.52763e-06	3.53423e-06	1	1	0
REPIN1	29803	broad.mit.edu	37	7	150069302	150069302	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150069302C>T	uc022apt.1	-	0	732	c.364G>A	c.(364-366)Ggc>Agc	p.G122S	REPIN1_uc003whd.2_Silent_p.A313A|REPIN1_uc010lpq.1_Silent_p.A324A|REPIN1_uc010lpr.1_Silent_p.A381A|REPIN1_uc003whc.2_Silent_p.A324A|REPIN1_uc003whe.2_Silent_p.A324A			Q9BWE0	REPI1_HUMAN	Homo sapiens mRNA; cDNA DKFZp762K135 (from clone DKFZp762K135).	229					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCCAGGCCGCCCCCGGCCCGG	0.731000														9			4		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14868871	14868871	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:14868871C>T	uc003zlm.3	-	2	921	c.105G>A	c.(103-105)atG>atA	p.M35I	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	35					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGTGGCCCTTCATCACCCTCA	0.562000														11			7		0	0	1	0	0
PCDHB18	54660	broad.mit.edu	37	5	140615792	140615792	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140615792G>A	uc003ljc.1	+	0	1855	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GGACGCCAACGACAACTCGCC	0.711000														64			34		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37328890	37328890	+	Missense_Mutation	SNP	G	A	A	rs146404001	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37328890G>A	uc003aqa.4	+	8	1313	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	CSF2RB_uc003aqc.4_Missense_Mutation_p.E372K	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	366	Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AATGCGATACGAACACATAGA	0.567000														32			9		0	0	1	0	0
RRH	10692	broad.mit.edu	37	4	110763652	110763652	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:110763652C>T	uc003hzv.3	+	5	782	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L		NM_006583	NP_006574	O14718	OPSX_HUMAN	Homo sapiens retinal pigment epithelium-derived rhodopsin homolog (RRH), mRNA.	250					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		CTGCATGTTTCTGGTGGCATG	0.398000														135			39		0	0	1	0	0
ZNF77	58492	broad.mit.edu	37	19	2936611	2936611	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:2936611G>A	uc002lws.4	-	2	353	c.222C>T	c.(220-222)ttC>ttT	p.F74F		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	74	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTTCCTGTGAACTTTACAA	0.413000														61			33		0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110029765	110029765	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110029765C>T	uc001dxr.3	+	3	450	c.435C>T	c.(433-435)tcC>tcT	p.S145S	ATXN7L2_uc001dxs.3_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	145										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CGAAAACCTCCTCCAGGGAGA	0.622000														18			3		0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53556411	53556411	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:53556411G>A	uc021onn.1	-	7	1444	c.1276C>T	c.(1276-1278)Cgc>Tgc	p.R426C	SLC1A7_uc021onm.1_Missense_Mutation_p.R295C|SLC1A7_uc001cux.3_5'UTR|SLC1A7_uc001cuy.3_Missense_Mutation_p.R367C|SLC1A7_uc021ono.1_Intron	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	397						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.A425A(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	AGCACGAAGCGAGCGATGCGC	0.622000														26			15		0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37602816	37602816	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37602816C>T	uc003ara.3	-	1	1089	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R	SSTR3_uc003arb.3_Missense_Mutation_p.G343R|SSTR3_uc021wos.1_Missense_Mutation_p.G343R	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	343					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						TCCGGGGGCCCCACAGTGGGC	0.672000														66			18		0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134413	27134413	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:27134413C>T	uc003sye.3	-	2	747	c.653_splice	c.e2-1	p.G218_splice	HOXA1_uc003syd.3_Splice_Site|HOXA1_uc022aao.1_3'UTR|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	218						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTCCAACTTTCCCTGGGGCAA	0.493000														42			26		0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151153862	151153862	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:151153862C>T	uc003ilo.4	+	10	2253	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L	DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Missense_Mutation_p.S483L|DCLK2_uc003iln.4_Missense_Mutation_p.S482L	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	483	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	p.S500L(1)|p.S483L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCAATTACTTCGTCGACCAAG	0.448000														210			45		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419245	10419245	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10419245G>A	uc002gmo.3	-	4	597	c.503C>T	c.(502-504)aCt>aTt	p.T168I	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	168	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCACTCACCAGTCAGCATGAA	0.423000														92			73		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49169754	49169754	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49169754G>A	uc001rsh.4	-	7	2458	c.1798C>T	c.(1798-1800)Cgc>Tgc	p.R600C	ADCY6_uc001rsi.4_Missense_Mutation_p.R600C|ADCY6_uc001rsj.4_Missense_Mutation_p.R600C|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	600					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCATCTGGCGGAAGGCCTTG	0.607000														11			4		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228525721	228525721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228525721G>A	uc009xez.1	+	66	16921	c.16877G>A	c.(16876-16878)gGc>gAc	p.G5626D	OBSCN_uc001hsn.3_Missense_Mutation_p.G5626D|OBSCN_uc001hsr.1_Missense_Mutation_p.G254D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5626	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCGGGAAGGCCAGTATGTG	0.632000														12			9		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236755334	236755334	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:236755334G>A	uc001hyd.2	-	10	1533	c.1381C>T	c.(1381-1383)Cat>Tat	p.H461Y		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	461					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACAAACTGATGGAAAAGCTCT	0.353000														104			27		0	0	1	0	0
IGSF8	93185	broad.mit.edu	37	1	160062981	160062981	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160062981G>A	uc001fva.3	-	3	1090	c.1045C>T	c.(1045-1047)Cct>Tct	p.P349S	IGSF8_uc001fuz.3_Missense_Mutation_p.P349S|IGSF8_uc009wtf.3_Missense_Mutation_p.P349S	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	349	Ig-like C2-type 3.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCCCCGCAGGTGCCATCTCC	0.662000														28			10		0	0	1	0	0
TWF1	5756	broad.mit.edu	37	12	44191132	44191132	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:44191132G>A	uc001roa.3	-	6	863	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	TWF1_uc001rnz.3_Missense_Mutation_p.H147Y|TWF1_uc001rob.3_Missense_Mutation_p.H252Y|TWF1_uc001roc.3_Missense_Mutation_p.H147Y	NM_002822	NP_002813	Q12792	TWF1_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 1 (Drosophila) (TWF1), transcript variant 2, mRNA.	245	ADF-H 2.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity	p.R278S(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TCTCCTTCATGGGAATGTTTA	0.333000														133			13		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234590866	234590866	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234590866G>A	uc002vut.3	+	0	283	c.283G>A	c.(283-285)Gat>Aat	p.D95N	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.D95N	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	102					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GGTTTTTGCCGATGCTCGCTG	0.433000														142			61		0	0	1	0	0
CRIP1	1396	broad.mit.edu	37	14	105954825	105954825	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105954825G>A	uc001yri.4	+	4	325	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	C14orf80_uc001yrj.3_5'Flank|C14orf80_uc001yrk.3_5'Flank|C14orf80_uc001yrn.3_5'Flank|C14orf80_uc001yro.3_5'Flank|C14orf80_uc001yrm.3_5'Flank	NM_001311	NP_001302	P50238	CRIP1_HUMAN	Homo sapiens cysteine-rich protein 1 (intestinal) (CRIP1), mRNA.	71					cell proliferation	cytoplasm	zinc ion binding						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		GCGGGGCGGAGCCGAGAGCCA	0.642000														71			21		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566348	45566348	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:45566348C>T	uc010dnv.3	-	2	1633	c.1197G>A	c.(1195-1197)ggG>ggA	p.G399G	ZBTB7C_uc002ldb.3_Silent_p.G377G|ZBTB7C_uc010dnu.3_Silent_p.G386G|ZBTB7C_uc010dnw.3_Silent_p.G377G|ZBTB7C_uc010dnx.1_Silent_p.G377G|ZBTB7C_uc010dny.1_Silent_p.G377G|ZBTB7C_uc010dnz.1_Silent_p.G399G|ZBTB7C_uc010doi.1_Silent_p.G377G|ZBTB7C_uc010doj.1_Silent_p.G386G|ZBTB7C_uc010dok.1_Silent_p.G426G|ZBTB7C_uc010dol.1_Silent_p.G386G|ZBTB7C_uc010doa.1_Silent_p.G399G|ZBTB7C_uc010dob.1_Silent_p.G377G|ZBTB7C_uc010doc.1_Silent_p.G386G|ZBTB7C_uc010dod.1_Silent_p.G399G|ZBTB7C_uc010doe.1_Silent_p.G377G|ZBTB7C_uc010dof.1_Silent_p.G377G|ZBTB7C_uc010dog.1_Silent_p.G377G|ZBTB7C_uc010doh.1_Silent_p.G386G|ZBTB7C_uc010dom.1_Silent_p.G386G|ZBTB7C_uc010don.1_Silent_p.G385G|ZBTB7C_uc010dop.1_Silent_p.G377G|ZBTB7C_uc010doq.1_Silent_p.G386G|ZBTB7C_uc010dor.1_Silent_p.G399G|ZBTB7C_uc010dos.1_Silent_p.G377G|ZBTB7C_uc010dot.1_Silent_p.G377G|ZBTB7C_uc010doo.1_Silent_p.G377G|ZBTB7C_uc010dou.1_Silent_p.G386G	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	377						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCGGCAGCTTCCCGGCCCCCA	0.642000														86			39		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160783618	160783618	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160783618C>T	uc001fwu.3	+	2	697	c.647C>T	c.(646-648)cCa>cTa	p.P216L	LY9_uc010pjs.1_Missense_Mutation_p.P216L|LY9_uc001fwv.3_Missense_Mutation_p.P216L|LY9_uc001fww.3_Missense_Mutation_p.P216L|LY9_uc001fwy.1_Missense_Mutation_p.P118L|LY9_uc001fwz.3_5'Flank	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	216	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCATGTGACCCAGACCTGCCA	0.552000														230			65		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653509	46653509	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:46653509C>T	uc003bhh.3	-	0	5711	c.5711G>A	c.(5710-5712)aGc>aAc	p.S1904N		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1904					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CAGCCAATTGCTTTCTTGAAG	0.398000														89			34		0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161514664	161514664	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161514664G>A	uc001gar.3	-	3	696	c.512C>T	c.(511-513)gCt>gTt	p.A171V	FCGR3A_uc001gas.3_Missense_Mutation_p.A170V|FCGR3A_uc001gat.4_Missense_Mutation_p.A135V|FCGR3A_uc009wuh.3_Missense_Mutation_p.A134V|FCGR3A_uc009wui.3_Missense_Mutation_p.A135V	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	135	Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		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)	CTTATGCAGAGCAGTGTTCTT	0.483000														52			16		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331568	70331568	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70331568C>T	uc001oqc.3	-	20	4744	c.4632G>A	c.(4630-4632)gaG>gaA	p.E1544E	SHANK2_uc010rqn.2_Silent_p.E1020E|SHANK2_uc001opz.3_Silent_p.E1015E|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1231					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGCTTTTGATCTCTGTGACGT	0.592000														121			22		0	0	1	0	0
NAA60	79903	broad.mit.edu	37	16	3533403	3533403	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3533403C>T	uc002cvh.4	+	5	624	c.378C>T	c.(376-378)acC>acT	p.T126T	NAA60_uc010uxb.1_Silent_p.T133T|NAA60_uc010btk.1_Silent_p.T61T|NAA60_uc010btl.3_Intron|NAA60_uc021tcf.1_Silent_p.T126T|NAA60_uc010btm.3_Silent_p.T126T|NAA60_uc010uxd.2_Intron|NAA60_uc010uxe.2_Intron|NAA60_uc002cvg.2_Silent_p.T126T	NM_001083601	NP_079121	Q9H7X0	NAT15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 60, NatF catalytic subunit (NAA60), transcript variant 1, mRNA.	126	N-acetyltransferase.						N-acetyltransferase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						ACATATCAACCACCGCCCAGG	0.468000														18			8		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22902738	22902738	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22902738C>T	uc001bfx.1	+	2	313	c.188C>T	c.(187-189)tCc>tTc	p.S63F	EPHA8_uc001bfw.3_Missense_Mutation_p.S63F	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	63						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTGGACGAGTCCTTCCAGCCC	0.612000														128			46		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997289	19997289	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:19997289C>T	uc002ktv.1	-	0	590	c.486G>A	c.(484-486)atG>atA	p.M162I		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	162						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TCTTGAAGGTCATTTTGGCTT	0.378000														140			73		0	0	1	0	0
SIRT5	23408	broad.mit.edu	37	6	13601076	13601076	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:13601076C>T	uc003nay.3	+	8	1064	c.752C>T	c.(751-753)tCc>tTc	p.S251F	SIRT5_uc003naw.3_Missense_Mutation_p.S251F|SIRT5_uc003nax.3_Missense_Mutation_p.S143F|SIRT5_uc011dit.2_Missense_Mutation_p.S233F	NM_012241	NP_001229756	Q9NXA8	SIRT5_HUMAN	Homo sapiens sirtuin 5 (SIRT5), transcript variant 1, mRNA.	251	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	GTGGGCACTTCCTCTGTGGTG	0.537000														34			7		0	0	1	0	0
WNT3	7473	broad.mit.edu	37	17	44851147	44851147	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:44851147G>A	uc002ikv.2	-	1	328	c.209C>T	c.(208-210)gCc>gTc	p.A70V		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	70					Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CACGCCCTCGGCCACGCTGGG	0.647000														36			28		0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143054022	143054022	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143054022C>T	uc010lpa.3	-	6	848	c.704G>A	c.(703-705)aGc>aAc	p.S235N	FAM131B_uc010loz.3_Missense_Mutation_p.S175N|FAM131B_uc003wct.3_Missense_Mutation_p.S207N|FAM131B_uc003wcu.4_Missense_Mutation_p.S207N	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	207										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GGACTGATCGCTGGCTTCCCA	0.557000														56			14		0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810712	65810712	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65810712C>T	uc001ogv.3	-	1	722	c.562G>A	c.(562-564)Gag>Aag	p.E188K	GAL3ST3_uc001ogw.3_Missense_Mutation_p.E188K	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	188					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	p.P187T(1)		kidney(1)|lung(9)|ovary(2)|skin(2)	14						TAGTATGCCTCGGGCGCGCGC	0.677000														38			11		0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90355918	90355918	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:90355918G>A	uc003uky.2	+	2	383	c.161G>A	c.(160-162)gGa>gAa	p.G54E	CDK14_uc003ukt.1_Missense_Mutation_p.G8E|CDK14_uc003ukv.1_Missense_Mutation_p.G8E|CDK14_uc003uku.1_Missense_Mutation_p.G8E|CDK14_uc003ukx.1_Intron|CDK14_uc003ukz.1_Missense_Mutation_p.G36E|CDK14_uc010les.1_Missense_Mutation_p.G8E|CDK14_uc011khl.1_5'UTR	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	54					G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AACTGCCAGGGAATGGACTCA	0.408000														79			8		0	0	1	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179044567	179044567	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:179044567G>A	uc021yjd.1	-	7	1036	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	HNRNPH1_uc011dgn.2_Silent_p.F65F|HNRNPH1_uc003mkf.4_Silent_p.F335F|HNRNPH1_uc003mkg.4_Silent_p.F243F|HNRNPH1_uc003mke.4_Silent_p.F335F|HNRNPH1_uc003mkh.4_Silent_p.F335F	NM_005520	NP_005511	P31943	HNRH1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H1 (H) (HNRNPH1), mRNA.	335	2 X 16 AA Gly-rich approximate repeats.|RRM 3.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CATGAGTTGCGAACTCGACAT	0.438000														124			66		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74622633	74622633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74622633G>A	uc002axo.3	+	11	1788	c.1394G>A	c.(1393-1395)aGc>aAc	p.S465N	CCDC33_uc002axp.3_Missense_Mutation_p.S287N|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Missense_Mutation_p.S58N|CCDC33_uc002axr.3_Missense_Mutation_p.S58N	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	668							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ATACTGAGGAGCCGCCTGGCC	0.627000														25			4		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36759506	36759506	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36759506G>A	uc003cgi.2	-	3	2239	c.1748C>T	c.(1747-1749)tCt>tTt	p.S583F		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	583	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCACCATCAGAGATATTGTC	0.552000														134			64		0	0	1	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105331	60105331	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60105331G>A	uc001npd.3	+	1	279	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	89						integral to membrane	receptor activity	p.E89K(2)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TAAGTTGGACGAAAAGGATAT	0.453000														102			53		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440515	124440515	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124440515C>T	uc010san.2	+	0	551	c.551C>T	c.(550-552)cCc>cTc	p.P184L		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		TTAAAACTGCCCTATTGTGAG	0.483000														77			30		0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90286605	90286605	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90286605G>C	uc002boj.3	+	16	2145	c.2044G>C	c.(2044-2046)Gag>Cag	p.E682Q	WDR93_uc010bnr.3_Missense_Mutation_p.E654Q|WDR93_uc010upz.2_Missense_Mutation_p.E399Q	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	682					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GCTCCAGAGAGAGAACTTCAA	0.577000														81			15		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108156452	108156452	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108156452C>T	uc003dxa.1	-	25	3287	c.3230G>A	c.(3229-3231)aGt>aAt	p.S1077N		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1077						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						GTTCTCCATACTTTCCCGATT	0.483000														205			53		0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	76055823	76055823	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:76055823G>A	uc001vjl.1	-	0	428	c.81C>T	c.(79-81)ggC>ggT	p.G27G	TBC1D4_uc010aer.2_Silent_p.G27G|TBC1D4_uc010aes.2_Silent_p.G27G	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	27						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GCTTCCCGGGGCCGGGCTGAG	0.687000														19			6		0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1657262	1657262	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1657262G>A	uc002cmb.3	-	2	368	c.6C>T	c.(4-6)gcC>gcT	p.A2A		NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	2										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CATAATAGAGGGCCATGACGG	0.468000														80			27		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62423883	62423883	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:62423883G>A	uc003dll.2	-	27	4033	c.3673C>T	c.(3673-3675)Ccc>Tcc	p.P1225S	CADPS_uc003dlj.1_Missense_Mutation_p.P180S|CADPS_uc003dlk.1_Missense_Mutation_p.P673S|CADPS_uc003dlm.2_Missense_Mutation_p.P1186S|CADPS_uc003dln.2_Missense_Mutation_p.P1146S|CADPS_uc021wzv.1_Missense_Mutation_p.P1216S	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1225	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCCATCCCGGGTTTCTGTAAA	0.468000														45			18		0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78415084	78415084	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:78415084C>T	uc003kfu.4	+	2	274	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	BHMT_uc011cti.2_Intron	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	57	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)	TCTCCCAGTTCGCCAGCTTCA	0.438000														100			30		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41748899	41748899	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41748899G>A	uc010ehj.3	+	10	1614	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	AXL_uc010ehi.1_Missense_Mutation_p.R475Q|AXL_uc010ehk.3_Missense_Mutation_p.R466Q|TRNA_Pseudo_uc021uux.1_5'Flank	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	475						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTCCACCGGCGAAAGAAGGAG	0.607000														53			19		0	0	1	0	0
MFNG	4242	broad.mit.edu	37	22	37882141	37882141	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37882141C>T	uc003ass.2	-	0	338	c.75G>A	c.(73-75)cgG>cgA	p.R25R	MFNG_uc011anj.2_Silent_p.R25R|MFNG_uc011ani.2_5'UTR|CARD10_uc003ast.1_Intron	NM_002405	NP_002396	O00587	MFNG_HUMAN	Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA.	25					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					TCAAGTGGTACCGCAGACACA	0.667000														44			18		0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173883916	173883916	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:173883916C>T	uc001gjt.3	-	1	302	c.183G>A	c.(181-183)aaG>aaA	p.K61K		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	61					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	CCTCAGTTGCCTTCTTCTCCG	0.582000											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		166			65		0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145094856	145094856	+	Silent	SNP	C	T	T	rs60729674	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145094856C>T	uc011lkw.2	+	1	360	c.258C>T	c.(256-258)ctC>ctT	p.L86L	SPATC1_uc011lkx.2_Silent_p.L86L	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	86										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AACGAGTCCTCGAAGAAGTGG	0.642000														84			26		0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703507	55703507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55703507G>A	uc010ris.2	-	0	370	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCGACATAGCGATCATAGGCC	0.438000														69			20		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41160355	41160355	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41160355G>A	uc003jmk.2	-	10	1783	c.1573C>T	c.(1573-1575)Cca>Tca	p.P525S	C6_uc003jml.1_Missense_Mutation_p.P525S	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	525	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				TTAGGGCATGGAGCACACTGG	0.507000														126			45		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44676097	44676097	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44676097C>T	uc010zxl.1	+	14	1937	c.1861C>T	c.(1861-1863)Ctc>Ttc	p.L621F	SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.L598F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	621					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTCTAGGACCCTCTCCTTCCT	0.572000														108			38		0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477849	88477849	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:88477849G>A	uc021rxh.1	+	0	658	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	GPR65_uc001xvv.3_Missense_Mutation_p.E220K	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	220					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GGAAAACAAGGAAAAGAAGAG	0.428000														35			16		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76492029	76492029	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76492029C>T	uc010dhp.2	-	37	5956	c.5831G>A	c.(5830-5832)gGt>gAt	p.G1944D	AK127460_uc002jvt.1_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATGAAGATACCGACGGTGGG	0.527000														59			16		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450996	55450996	+	Silent	SNP	G	A	A	rs147899515		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55450996G>A	uc002qih.4	-	3	1267	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	NLRP7_uc010esk.3_Silent_p.F397F|NLRP7_uc002qig.4_Silent_p.F397F|NLRP7_uc002qii.4_Silent_p.F397F|NLRP7_uc010esl.3_Silent_p.F425F	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	397	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGCTGCAGAGGAAACGCAGGA	0.697000														22			12		0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	239990214	239990214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:239990214G>A	uc002vyk.4	-	22	3617	c.2825C>T	c.(2824-2826)cCt>cTt	p.P942L	HDAC4_uc010fyy.3_Missense_Mutation_p.P899L	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	942	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCCCCCAAGAGGGGTGGGGTG	0.597000														46			16		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46230641	46230641	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:46230641C>T	uc001ros.1	+	7	890	c.890C>T	c.(889-891)tCc>tTc	p.S297F	ARID2_uc001ror.3_Missense_Mutation_p.S297F|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	297					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGAAATCTTTCCTTTGAGGAG	0.398000			"""N, S, F"""		hepatocellular carcinoma									85			45		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27169583	27169583	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:27169583G>A	uc011lno.2	+	3	1026	c.584G>A	c.(583-585)gGa>gAa	p.G195E	TEK_uc010mjc.1_Missense_Mutation_p.G48E|TEK_uc011lnn.1_Missense_Mutation_p.G195E|TEK_uc003zqi.4_Missense_Mutation_p.G195E|TEK_uc011lnp.2_Missense_Mutation_p.G91E|TEK_uc003zqj.1_Missense_Mutation_p.G172E	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	195					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AGGTATATAGGAGGAAACCTC	0.507000														88			41		0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49395100	49395100	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:49395100G>A	uc021wxw.1	-	1	413	c.333C>T	c.(331-333)ctC>ctT	p.L111L	GPX1_uc021wxx.1_3'UTR	NM_000581	NP_000572	P07203	GPX1_HUMAN	Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA.	111					UV protection|anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion	cytosol|mitochondrion	SH3 domain binding|endopeptidase inhibitor activity|glutathione peroxidase activity			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	ACTTCTCGAAGAGCATGAAGT	0.617000														87			14		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817442	69817442	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69817442G>A	uc003hef.2	-	0	68	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	13						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGAGCTGCAGGAGCAGAAAT	0.468000														44			13		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62298879	62298879	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62298879G>A	uc001ntl.3	-	4	3310	c.3010C>T	c.(3010-3012)Ccc>Tcc	p.P1004S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1004					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTAAATTTGGGCATTTTAATC	0.468000														152			57		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130509543	130509543	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130509543G>A	uc004bsc.3	-	5	1289	c.1147C>T	c.(1147-1149)Ctg>Ttg	p.L383L	SH2D3C_uc010mxo.3_Silent_p.L223L|SH2D3C_uc004bry.3_Silent_p.L225L|SH2D3C_uc004brz.4_Silent_p.L29L|SH2D3C_uc011mak.2_Silent_p.L29L|SH2D3C_uc004bsb.3_Silent_p.L315L|SH2D3C_uc004bsa.3_Silent_p.L226L	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	383					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGCGGGGCAGCGACGTACTG	0.657000														23			8		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33991943	33991943	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:33991943C>T	uc001zhi.3	+	40	6358	c.6288C>T	c.(6286-6288)ttC>ttT	p.F2096F	RYR3_uc010bar.3_Silent_p.F2096F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2096	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2095C(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTGCCGTTTCCTTTGCTATT	0.438000														29			7		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2297749	2297749	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:2297749G>A	uc002wfx.4	+	5	802	c.705G>A	c.(703-705)ggG>ggA	p.G235G		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	235					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGCTTGCTGGGAATTGGAGCG	0.532000														110			31		0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436483	56436483	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:56436483C>T	uc003xsf.3	+	2	1682	c.1650C>T	c.(1648-1650)tcC>tcT	p.S550S		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	550						integral to membrane		p.S550T(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GGTCCATCTCCAACAACCGCA	0.592000														77			12		0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43585109	43585109	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43585109G>A	uc001zrf.1	-	2	242	c.237C>T	c.(235-237)ttC>ttT	p.F79F		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	79					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CCCGGGTGAGGAAGAATGTGG	0.527000														190			59		0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266308	3266308	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3266308G>A	uc010uwv.2	+	0	747	c.599G>A	c.(598-600)aGa>aAa	p.R200K						Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA.																		ACAAAGGGAAGATGGAAAGCC	0.527000														43			15		0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882677	68882677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:68882677C>T	uc010yqj.2	+	1	1311	c.1151C>T	c.(1150-1152)aCc>aTc	p.T384I	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	384						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.T384N(2)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATGCCTGCCACCGAAGAGGTG	0.483000														44			14		0	0	1	0	0
SLC2A2	6514	broad.mit.edu	37	3	170715801	170715801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:170715801C>T	uc003fhe.1	-	10	1775	c.1466G>A	c.(1465-1467)gGa>gAa	p.G489E	U1_uc021xhg.1_5'Flank|SLC2A2_uc003fhf.1_Missense_Mutation_p.G316E|SLC2A2_uc011bpu.1_Missense_Mutation_p.G362E	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	489					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	p.K488I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			AAAAGACTTTCCTTTGGTTTC	0.438000														133			8		0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17487897	17487897	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17487897G>A	uc002ngk.1	-	0	241	c.201C>T	c.(199-201)gcC>gcT	p.A67A		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	67						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATAGGCCCTCGGCTCGGCGCT	0.592000														38			11		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540021	94540021	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94540021C>T	uc003unp.3	+	1	878	c.596C>T	c.(595-597)tCc>tTc	p.S199F	PPP1R9A_uc010lfj.3_Missense_Mutation_p.S199F|PPP1R9A_uc011kif.2_Missense_Mutation_p.S199F|PPP1R9A_uc003unq.3_Missense_Mutation_p.S199F|PPP1R9A_uc011kig.2_Missense_Mutation_p.S199F	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	199						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)			GAGGCTGTCTCCCCAACTGTG	0.502000										HNSCC(28;0.073)				44			17		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131466464	131466464	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:131466464G>A	uc010tbm.2	+	5	1001	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	GPR133_uc001uit.4_Missense_Mutation_p.E116K	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	116					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GACACAAGGAGAACAGTCTAG	0.502000														83			14		0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68810291	68810291	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:68810291G>A	uc003hdr.1	-	2	319	c.198C>T	c.(196-198)ttC>ttT	p.F66F	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Silent_p.F66F	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	66	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TGCTTTGTCCGAAATTGTTAT	0.333000														76			34		0	0	1	0	0
C17orf56	146705	broad.mit.edu	37	17	79203038	79203038	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:79203038G>A	uc002jzu.2	-	11	1326	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	C17orf56_uc002jzr.2_Missense_Mutation_p.S93F|C17orf56_uc002jzs.2_Missense_Mutation_p.S339F|C17orf56_uc002jzt.2_Missense_Mutation_p.S339F|C17orf56_uc002jzv.2_Missense_Mutation_p.S271F|AL832593_uc002jzw.1_Non-coding_Transcript	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	Homo sapiens chromosome 17 open reading frame 56 (C17orf56), mRNA.	423	Pro-rich.					integral to membrane				endometrium(1)|kidney(1)|lung(5)|prostate(1)|skin(3)	11	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGGAATGGGGGAGGCATCTGG	0.687000														8			8		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984756	85984756	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:85984756G>A	uc010qmc.2	-	1	233	c.225C>T	c.(223-225)ttC>ttT	p.F75F	LRIT2_uc001kcy.3_Silent_p.F75F	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	75						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TCATGTTGATGAAAGACCCTT	0.463000														114			13		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15734018	15734018	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15734018C>T	uc002nbi.3	+	7	812	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	CYP4F8_uc010xoj.2_Missense_Mutation_p.P63S	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	251					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CTTCCTCACTCCCTGTGGACG	0.562000														58			32		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176809404	176809404	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176809404G>A	uc001gkz.3	+	21	6462	c.5298G>A	c.(5296-5298)aaG>aaA	p.K1766K	PAPPA2_uc009www.3_Non-coding_Transcript|PAPPA2_uc001gla.2_5'Flank	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1766					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTCCTCCAAGAAGGTGAGTG	0.522000														91			25		0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24759824	24759824	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:24759824G>A	uc001mqs.3	+	3	583	c.309G>A	c.(307-309)gaG>gaA	p.E103E	LUZP2_uc009yif.3_Silent_p.E17E|LUZP2_uc009yig.3_Silent_p.E103E	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	103						extracellular region		p.E103*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGACATCAGAGAAAGCAGAAA	0.373000														37			15		0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78911186	78911186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:78911186G>A	uc002bec.3	-	1	655	c.154C>T	c.(154-156)Cct>Tct	p.P52S	CHRNA3_uc002beb.3_Missense_Mutation_p.P52S|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	52					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTGGCTACAGGCCGGATGATC	0.572000											OREG0023334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		109			17		0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55080462	55080462	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55080462C>T	uc001cxn.3	-	3	618	c.486G>A	c.(484-486)gaG>gaA	p.E162E	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	162						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTTTGCCTTCCTCTGTCAGCT	0.557000														49			15		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91347469	91347469	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:91347469C>T	uc001tbj.3	-	0	1485	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	351	Glu-rich.									NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						CCTCTCTGCTCGTTCTCCTCC	0.488000														75			26		0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518795	108518795	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:108518795G>A	uc001vql.3	-	0	666	c.150C>T	c.(148-150)gtC>gtT	p.V50V		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	50						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CAGAGAGCAGGACTGTGAAAA	0.597000														135			48		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167489245	167489245	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:167489245G>A	uc010jjd.3	+	6	1490	c.1490G>A	c.(1489-1491)aGa>aAa	p.R497K	ODZ2_uc003lzq.2_Missense_Mutation_p.R376K|ODZ2_uc003lzr.4_Missense_Mutation_p.R265K	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)		TACATAAGAAGAGGACTTCCA	0.408000														82			36		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584536	7584536	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7584536C>T	uc003mxp.1	+	23	7320	c.7041C>T	c.(7039-7041)atC>atT	p.I2347I	DSP_uc003mxq.1_Silent_p.I1748I|DSP_uc021yle.1_Silent_p.I1904I	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2347	Globular 2.				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)		CAGGAAACATCATCTCTTTGT	0.473000														68			15		0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790832	4790832	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4790832G>A	uc010qyl.2	-	0	316	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	106						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)		AATCCATGAAGAAAAAACATC	0.443000														41			11		0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132207802	132207802	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:132207802G>A	uc011ecf.2	+	23	2565	c.2545G>A	c.(2545-2547)Gaa>Aaa	p.E849K		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	849	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTTGCACTGTGAAAACCTAGA	0.378000														40			28		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9001395	9001395	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:9001395C>T	uc001quz.4	+	15	2011	c.1913C>T	c.(1912-1914)cCa>cTa	p.P638L	A2ML1_uc001qva.1_Missense_Mutation_p.P218L|A2ML1_uc010sgm.2_Missense_Mutation_p.P138L	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	482						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GTGTCTGGCCCATGGGACTTT	0.552000														226			42		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039402	31039402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:31039402C>T	uc002nsu.1	+	3	3014	c.2876C>T	c.(2875-2877)cCc>cTc	p.P959L	ZNF536_uc010edd.1_Missense_Mutation_p.P959L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	959					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAGGAGAAACCCAGTGGCAAG	0.577000														151			53		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52382951	52382951	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52382951C>T	uc011bef.2	+	12	2415	c.2154C>T	c.(2152-2154)tcC>tcT	p.S718S	DNAH1_uc003ddt.1_Silent_p.S718S	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	718	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCTGGAGTCCGTGGGCCTTC	0.617000														96			37		0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85997426	85997426	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:85997426C>T	uc001kcz.1	-	1	161	c.139G>A	c.(139-141)Gac>Aac	p.D47N		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	47	LRRNT.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						ATGTCGGGGTCGTTGCACACT	0.657000														55			17		0	0	1	0	0
TRIM25	7706	broad.mit.edu	37	17	54972922	54972922	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:54972922G>A	uc002iut.3	-	6	1284	c.1224C>T	c.(1222-1224)gcC>gcT	p.A408A	TRIM25_uc010dcj.3_Silent_p.A200A	NM_005082	NP_005073	Q14258	TRI25_HUMAN	Homo sapiens tripartite motif containing 25 (TRIM25), mRNA.	408	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					ACTGTTCCGGGGCTCCAAACG	0.517000														181			18		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25886970	25886970	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:25886970G>A	uc001isj.3	+	10	2475	c.2415G>A	c.(2413-2415)gaG>gaA	p.E805E	GPR158_uc001isk.3_Silent_p.E180E	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	805						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCAAGGAGGAGACCCTGAAAA	0.547000														121			44		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20623038	20623038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:20623038C>T	uc001mqd.3	+	1	640	c.367C>T	c.(367-369)Cct>Tct	p.P123S	SLC6A5_uc009yic.3_5'UTR	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	123					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTGTAAGATCCCTTTTCTGCG	0.672000														18			7		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028738	37028738	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:37028738C>T	uc004ddl.2	+	0	2307	c.2255C>T	c.(2254-2256)cCa>cTa	p.P752L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	752								p.P752Q(3)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTCTCCGCCCAGAGCCTCTT	0.622000														38			25		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	79878690	79878690	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:79878690C>T	uc010ysh.2	+	0	13	c.8C>T	c.(7-9)tCg>tTg	p.S3L	CTNNA2_uc010yse.2_Missense_Mutation_p.S3L|CTNNA2_uc010ysf.2_Missense_Mutation_p.S3L|CTNNA2_uc010ysg.2_Missense_Mutation_p.S3L|MIR4264_uc021vjs.1_5'Flank	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	3					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCATGACTTCGGCAACTTCA	0.403000														69			26		0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67058534	67058534	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:67058534C>T	uc003dmy.3	+	3	1584	c.1531C>T	c.(1531-1533)Cgt>Tgt	p.R511C	KBTBD8_uc011bfv.2_Missense_Mutation_p.R69C	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	511										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TAAATGGACTCGTAAGAAAGA	0.368000														99			34		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76382131	76382131	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:76382131G>A	uc021rkq.1	+	9	2047	c.1712G>A	c.(1711-1713)aGt>aAt	p.S571N	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Missense_Mutation_p.S338N|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Missense_Mutation_p.S244N	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	623						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAGAAAAAAGTAATAGCTGT	0.443000														52			23		0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187118158	187118158	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187118158G>A	uc003iyw.4	+	3	782	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K		NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.	160					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TACCATTCTGGAAGATTTCTT	0.308000														71			27		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169550939	169550939	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:169550939G>A	uc003fgb.3	+	3	1498	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	500										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ATACCTCAAGGAAAACAGAAA	0.408000														29			12		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29455196	29455197	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29455196_29455197CC>TT	uc002rmy.3	-	14	3557_3558	c.2605_2606GG>AA	c.(2605-2607)ggg>AAg	p.G869K		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	869	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCCGTTTAGCCCTAGAACCGAG	0.624000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					81			30		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61962829	61962829	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61962829G>A	uc001jky.3	-	11	1661	c.1323C>T	c.(1321-1323)gcC>gcT	p.A441A	ANK3_uc010qih.2_Silent_p.A424A|ANK3_uc001jkz.4_Silent_p.A435A|ANK3_uc001jlb.1_5'UTR|ANK3_uc001jlc.1_Silent_p.A102A	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	441					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						GCCCCATGAAGGCAGCAACAT	0.443000														51			29		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169656228	169656228	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:169656228G>A	uc003fgd.3	+	8	1542	c.1275G>A	c.(1273-1275)atG>atA	p.M425I	SAMD7_uc003fge.3_Missense_Mutation_p.M425I|SAMD7_uc011bpo.2_Missense_Mutation_p.M326I	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	425										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GTGATACAATGAACATTTTTT	0.388000														40			21		0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160719870	160719870	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160719870G>A	uc001fwq.3	+	2	651	c.636G>A	c.(634-636)agG>agA	p.R212R	SLAMF7_uc010pjn.2_Silent_p.R105R|SLAMF7_uc001fws.3_Silent_p.R105R|SLAMF7_uc001fwr.3_Silent_p.R212R|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Silent_p.R105R|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Silent_p.R105R	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	212					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity	p.A211S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCCTTGCCAGGAAGCTCTGTG	0.557000														82			30		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91811697	91811697	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:91811697C>T	uc002bqv.3	+	9	2126	c.1235C>T	c.(1234-1236)cCt>cTt	p.P412L	SV2B_uc002bqt.3_Missense_Mutation_p.P412L|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.P261L	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	412					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTTTGGTTTCCTGATATGATC	0.418000														172			53		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77619947	77619947	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:77619947C>T	uc003yau.2	+	2	3144	c.2757C>T	c.(2755-2757)gcC>gcT	p.A919A	ZFHX4_uc003yat.1_Silent_p.A893A|ZFHX4_uc003yaw.1_Silent_p.A893A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	893						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)			GCCTGGAGGCCCTAAGTGTGC	0.507000										HNSCC(33;0.089)				40			6		0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55803379	55803379	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:55803379C>T	uc010gip.1	-	1	1046	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	BMP7_uc002xyc.3_Missense_Mutation_p.E173K	NM_001719	NP_001710	P18075	BMP7_HUMAN	Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.	173					BMP signaling pathway|SMAD protein signal transduction|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of MAP kinase activity|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of glomerular mesangial cell proliferation|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	p.E173K(2)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			ATCCGGAATTCGGCTGCCGTG	0.537000														136			70		0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130682871	130682871	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130682871C>T	uc011bli.2	+	11	1354	c.1058C>T	c.(1057-1059)gCt>gTt	p.A353V	ATP2C1_uc011blg.2_Missense_Mutation_p.A353V|ATP2C1_uc011blh.2_Missense_Mutation_p.A314V|ATP2C1_uc003enk.3_Missense_Mutation_p.A303V|ATP2C1_uc003enl.3_Missense_Mutation_p.A319V|ATP2C1_uc003enm.3_Missense_Mutation_p.A319V|ATP2C1_uc003enn.3_Missense_Mutation_p.A303V|ATP2C1_uc003eno.3_Missense_Mutation_p.A319V|ATP2C1_uc003enp.3_Missense_Mutation_p.A319V|ATP2C1_uc003ent.3_Missense_Mutation_p.A319V|ATP2C1_uc003ens.3_Missense_Mutation_p.A319V|ATP2C1_uc003enu.3_5'UTR	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	319					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GTGACGCTAGCTCTTGGTGTT	0.403000									Hailey-Hailey disease					150			70		0	0	1	0	0
EIF2D	1939	broad.mit.edu	37	1	206769163	206769163	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:206769163G>A	uc001heh.2	-	12	1622	c.1413C>T	c.(1411-1413)gcC>gcT	p.A471A	EIF2D_uc009xbw.2_Silent_p.A347A	NM_006893	NP_008824	P41214	EIF2D_HUMAN	Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA.	471					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TCACTTGATAGGCAGGCTGTA	0.438000														164			42		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442133	103442133	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:103442133G>A	uc001ymi.1	-	10	1627	c.1395C>T	c.(1393-1395)acC>acT	p.T465T		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	465					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCACGGTCTGGGTGGACTCTG	0.597000														221			12		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540207	169540207	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:169540207G>A	uc003fgb.3	+	0	498	c.498G>A	c.(496-498)aaG>aaA	p.K166K		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	166										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACCAGACCAAGCTGAGGGAGA	0.493000														98			13		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7681496	7681496	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:7681496G>A	uc002mgu.4	+	15	3382	c.3281G>A	c.(3280-3282)aGg>aAg	p.R1094K	CAMSAP3_uc002mgv.4_Missense_Mutation_p.R1067K|CAMSAP3_uc002mgw.3_Missense_Mutation_p.R197K	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	1067					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GGGGTGAAGAGGCCCACGTCT	0.612000														49			17		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126132960	126132960	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:126132960C>T	uc010hsg.1	+	2	222	c.163C>T	c.(163-165)Cac>Tac	p.H55Y	CCDC37_uc003eiu.1_Missense_Mutation_p.H55Y	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	55										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GAACCCTTTCCACTTATCTGG	0.567000														300			90		0	0	1	0	0
TCRBV20S1	0	broad.mit.edu	37	7	142032486	142032486	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142032486G>A	uc011krs.1	+	1	339	c.306G>A	c.(304-306)caG>caA	p.Q102Q	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron					Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds.																		AGCGCACACAGCAGGGGGACT	0.557000														18			12		0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43319820	43319820	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:43319820G>A	uc002iin.3	+	15	2198	c.1998G>A	c.(1996-1998)gaG>gaA	p.E666E	FMNL1_uc002iiq.3_Silent_p.E244E|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	666	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TCAATGATGAGAAGGTGCTGC	0.582000														25			15		0	0	1	0	0
HBG1	3047	broad.mit.edu	37	11	5275656	5275656	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5275656C>T	uc001mai.1	-	1	618	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.V61I	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	61					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGCCTTGACTTTGGGGTTG	0.537000														102			27		0	0	1	0	0
TMEM178	130733	broad.mit.edu	37	2	39931233	39931233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:39931233G>A	uc002rrt.3	+	1	493	c.413G>A	c.(412-414)cGa>cAa	p.R138Q	TMEM178_uc021vgg.1_5'UTR|TMEM178_uc010fam.2_Missense_Mutation_p.R138Q	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA.	138						integral to membrane				endometrium(1)|large_intestine(5)|lung(5)	11		all_hematologic(82;0.248)				ATTGCGCAGCGATGCACGGCC	0.448000														42			11		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002110	98002110	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:98002110C>T	uc003dsj.1	+	0	379	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GGCATATGATCGCTATGTAGC	0.378000														125			9		0	0	1	0	0
NCR3	259197	broad.mit.edu	37	6	31557903	31557903	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31557903C>T	uc003nuv.2	-	2	308	c.44_splice	c.e2-1	p.G15_splice	NCR3_uc003nuw.2_Splice_Site_p.G15_splice|NCR3_uc003nux.1_Splice_Site_p.G15_splice	NM_147130	NP_667341	O14931	NCTR3_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 3 (NCR3), transcript variant 1, mRNA.	15					cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						AGCACAGGATCCTGGGGGCAG	0.552000														38			20		0	0	1	0	0
IL11RA	3590	broad.mit.edu	37	9	34660551	34660551	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:34660551C>T	uc003zvi.3	+	10	2479	c.1123C>T	c.(1123-1125)Ctt>Ttt	p.L375F	IL11RA_uc011loq.2_Missense_Mutation_p.L375F|IL11RA_uc003zvj.3_Missense_Mutation_p.L375F|IL11RA_uc003zvk.3_Missense_Mutation_p.L375F|IL11RA_uc010mke.3_Missense_Mutation_p.L257F	NM_004512	NP_004503	Q14626	I11RA_HUMAN	Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA.	375						integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	TTTGGGAATCCTTTCTTTCCT	0.592000														36			11		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33704144	33704144	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:33704144C>T	uc001uuw.3	-	4	796	c.670G>A	c.(670-672)Gat>Aat	p.D224N	STARD13_uc001uuu.3_Missense_Mutation_p.D216N|STARD13_uc001uuv.3_Missense_Mutation_p.D106N|STARD13_uc001uux.3_Missense_Mutation_p.D189N|STARD13_uc010abh.1_Missense_Mutation_p.D209N|STARD13_uc021rhz.1_Missense_Mutation_p.D216N|STARD13_uc021ria.1_Missense_Mutation_p.D106N	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	224					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGTGGGGCATCCAGCATGACC	0.632000														36			18		0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160921009	160921009	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160921009C>T	uc001fxd.3	-	3	323	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	ITLN2_uc009wts.3_Missense_Mutation_p.G88S|ITLN2_uc010pju.2_Missense_Mutation_p.G6S	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	89	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTCCAGCCGCCACCCCCAGAA	0.577000														61			23		0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132177606	132177606	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:132177606G>A	uc010sci.2	+	4	881	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	NTM_uc001qgm.3_Missense_Mutation_p.E184K|NTM_uc010sch.2_Missense_Mutation_p.E175K|NTM_uc010scj.2_Missense_Mutation_p.E143K|NTM_uc001qgo.3_Missense_Mutation_p.E184K|NTM_uc001qgq.3_Missense_Mutation_p.E184K|NTM_uc001qgp.3_Missense_Mutation_p.E184K	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	184	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.E184K(3)|p.E184*(3)|p.D183E(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GAGTGAAGACGAATACTTGGA	0.493000														59			23		0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20130613	20130613	+	Missense_Mutation	SNP	C	T	T	rs140830467		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:20130613C>T	uc002zrr.2	+	9	1567	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	ZDHHC8_uc002zrq.3_Missense_Mutation_p.S487L|ZDHHC8_uc010gsa.3_Missense_Mutation_p.S293L	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	487						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					AATCCTGGCTCGCCTGGTGGC	0.697000														51			21		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106641605	106641605	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106641605C>T	uc021ser.1	-	1493		c.29780G>A								Parts of antibodies, mostly variable regions.																		ATCTCAGGCTCCTCAGCTCCA	0.537000														228			120		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94944637	94944637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94944637C>T	uc003uns.3	-	3	464	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	PON1_uc011kih.2_Missense_Mutation_p.E123K	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	123					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TTGTTACCTTCATCTGTGAAT	0.303000														33			10		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42880627	42880627	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42880627C>T	uc002otl.4	+	40	8672	c.8037C>T	c.(8035-8037)ccC>ccT	p.P2679P	MEGF8_uc002otm.4_Silent_p.P2287P|MEGF8_uc002otn.4_Silent_p.P340P	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2746						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)				CCTGGGGACCCATGGGAGGGG	0.726000														4			6		0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819929	17819929	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:17819929C>T	uc022btm.1	-	0	202	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	RAI2_uc004cyf.3_Missense_Mutation_p.G68S|RAI2_uc004cyg.3_Missense_Mutation_p.G68S|RAI2_uc011miy.2_Intron|RAI2_uc022btl.1_Missense_Mutation_p.G68S|RAI2_uc004cyh.4_Missense_Mutation_p.G68S|RAI2_uc010nfa.3_Missense_Mutation_p.G68S	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	68					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					AGAGCCATGCCACTCTGAGAC	0.627000														53			53		0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79314691	79314691	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:79314691G>A	uc002sny.2	-	1	160	c.48C>T	c.(46-48)ttC>ttT	p.F16F	REG1B_uc010ffv.1_Silent_p.F16F|REG1B_uc010ffw.3_Silent_p.F16F	NM_006507	NP_006498	P48304	REG1B_HUMAN	Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA.	16					cell proliferation	extracellular region	sugar binding	p.F16L(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TCAGAGACAGGAACATCAGGG	0.473000														33			16		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2786312	2786312	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2786312C>T	uc009zdu.1	+	41	5338	c.5025C>T	c.(5023-5025)taC>taT	p.Y1675Y	CACNA1C_uc001qkc.2_Silent_p.Y1646Y|CACNA1C_uc001qjz.2_Silent_p.Y1627Y|CACNA1C_uc001qkd.2_Silent_p.Y1646Y|CACNA1C_uc001qke.2_Silent_p.Y1616Y|CACNA1C_uc001qkf.2_Silent_p.Y1635Y|CACNA1C_uc009zdw.1_Silent_p.Y1668Y|CACNA1C_uc001qkg.2_Silent_p.Y1633Y|CACNA1C_uc001qkh.2_Silent_p.Y1635Y|CACNA1C_uc001qkl.2_Silent_p.Y1675Y|CACNA1C_uc001qkj.2_Silent_p.Y1627Y|CACNA1C_uc001qkk.2_Silent_p.Y1627Y|CACNA1C_uc001qkn.2_Silent_p.Y1627Y|CACNA1C_uc001qkm.2_Silent_p.Y1616Y|CACNA1C_uc001qko.2_Silent_p.Y1647Y|CACNA1C_uc001qkp.2_Silent_p.Y1627Y|CACNA1C_uc001qkq.2_Silent_p.Y1655Y|CACNA1C_uc001qku.2_Silent_p.Y1627Y|CACNA1C_uc001qkr.2_Silent_p.Y1644Y|CACNA1C_uc001qks.2_Silent_p.Y1627Y|CACNA1C_uc001qkt.2_Silent_p.Y1646Y|CACNA1C_uc009zdv.1_Silent_p.Y1624Y|CACNA1C_uc001qkb.2_Silent_p.Y1627Y|CACNA1C_uc001qki.1_Silent_p.Y1363Y|CACNA1C_uc010sea.1_Silent_p.Y318Y|AK093746_uc001qkx.1_Non-coding_Transcript|CACNA1C_uc001qky.1_5'Flank	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1675					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.Y1675*(1)|p.Y1705*(1)|p.Y1162*(1)|p.Y1668*(1)|p.Y1627*(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCCAGGAGTACTTCCGGAAGT	0.607000														22			11		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29867071	29867071	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29867071G>A	uc002kxl.3	-	3	1545	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	FAM59A_uc002kxk.2_Missense_Mutation_p.P497S	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	497										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						AGAGTCCCAGGGATGGGAAGA	0.507000														89			43		0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516385	138516385	+	Missense_Mutation	SNP	C	T	T	rs138281407	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:138516385C>T	uc010nbd.1	-	4	643	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	130					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	p.R130*(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TTTGAACGTTCGAAGAGGACT	0.537000														47			5		0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974693	49974693	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:49974693C>T	uc010rhz.2	+	0	751	c.719C>T	c.(718-720)tCc>tTc	p.S240F		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S240S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ACCTGTGTCTCCCACATCACA	0.458000														85			59		0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1562297	1562297	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1562297C>T	uc001agg.3	+	9	1548	c.1503C>T	c.(1501-1503)acC>acT	p.T501T	MIB2_uc001agh.3_Silent_p.T487T|MIB2_uc001agi.3_Silent_p.T497T|MIB2_uc001agj.3_Silent_p.T285T|MIB2_uc001agk.3_Silent_p.T436T|MIB2_uc001agl.2_Silent_p.T400T|MIB2_uc001agm.3_Silent_p.T321T|MIB2_uc010nyq.2_Silent_p.T400T|MIB2_uc009vkh.3_Silent_p.T250T|MIB2_uc001agn.3_Silent_p.T76T|MIB2_uc001ago.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	444					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGCGGTGGACCTTCAGCCCCT	0.687000														14			9		0	0	1	0	0
LFNG	3955	broad.mit.edu	37	7	2559870	2559870	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:2559870C>T	uc003smf.3	+	0	392	c.375C>T	c.(373-375)ttC>ttT	p.F125F	LFNG_uc021zyw.1_Intron|LFNG_uc021zyx.1_Intron|LFNG_uc003smg.3_Silent_p.F125F	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN	Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA.	125					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CCAAAAAGTTCCACCGCGCGC	0.751000														47			16		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286905	152286905	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152286905C>T	uc001ezu.1	-	2	493	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	153					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAACTAGATTCATGCCTTTTC	0.348000									Ichthyosis					130			17		0	0	1	0	0
CSNK1A1P1	161635	broad.mit.edu	37	15	37109956	37109956	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:37109956C>T	uc001zjg.4	-	0		c.752G>A								Homo sapiens casein kinase 1, alpha 1 pseudogene 1 (CSNK1A1P1), non-coding RNA.																		GTATAAAATTCTTTGTATGCA	0.373000														50			16		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21523896	21523896	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:21523896C>T	uc002kuq.3	+	68	9257	c.9171C>T	c.(9169-9171)atC>atT	p.I3057I	LAMA3_uc002kur.3_Silent_p.I3001I|LAMA3_uc002kus.4_Silent_p.I1448I|LAMA3_uc002kut.4_Silent_p.I1392I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	3057	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATTGAGGATCAAAAGCAAGG	0.468000														62			11		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228505603	228505603	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228505603G>A	uc009xez.1	+	52	13904	c.13860G>A	c.(13858-13860)ccG>ccA	p.P4620P	OBSCN_uc001hsn.3_Silent_p.P4620P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4620					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.P5202P(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGAGCCACCGAAGCCTGTGC	0.667000														11			3		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48736830	48736830	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:48736830C>T	uc001zwx.2	-	48	6340	c.5945G>A	c.(5944-5946)aGa>aAa	p.R1982K	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1982	EGF-like 34; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGCACATTTTCTGGGTTCTAG	0.398000														106			49		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62462974	62462974	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:62462974G>A	uc001xfu.1	+	0	434	c.237G>A	c.(235-237)gaG>gaA	p.E79E	SYT16_uc010tsd.1_Silent_p.E79E	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	79										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGAGTCAAGAGGATGCAAATT	0.378000														169			18		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216296644	216296644	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:216296644G>A	uc002vfa.3	-	3	725	c.459C>T	c.(457-459)acC>acT	p.T153T	FN1_uc002vfc.3_Silent_p.T153T|FN1_uc002vfe.3_Silent_p.T153T|FN1_uc002vff.3_Silent_p.T153T|FN1_uc002vfg.3_Silent_p.T153T|FN1_uc002vfh.3_Silent_p.T153T|FN1_uc002vfi.3_Silent_p.T153T|FN1_uc002vfj.3_Silent_p.T153T|FN1_uc002vfb.3_Silent_p.T153T|FN1_uc002vfl.3_Silent_p.T153T	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	153	Fibrin- and heparin-binding 1.|Fibronectin type-I 3.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCCTCCAGGTGTCACCAA	0.463000														179			11		0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206666435	206666435	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:206666435C>T	uc001hdz.2	+	18	2493	c.1915C>T	c.(1915-1917)Cag>Tag	p.Q639*	IKBKE_uc001hea.2_Nonsense_Mutation_p.Q554*|IKBKE_uc009xbv.2_Nonsense_Mutation_p.Q639*	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	639					DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCAGGGGGTCCAGGAGAGTCT	0.597000														10			3		0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25220525	25220525	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:25220525G>A	uc021sgb.1	+	2	1075	c.33G>A	c.(31-33)aaG>aaA	p.K11K	SNRPN_uc001ywp.1_Silent_p.K8K|SNRPN_uc001ywq.1_Silent_p.K8K|SNRPN_uc001ywr.1_Silent_p.K8K|SNRPN_uc001yws.1_Silent_p.K8K|SNRPN_uc001ywt.1_Silent_p.K8K|SNRPN_uc001ywy.1_Silent_p.K8K|SNRPN_uc001ywz.1_Intron|SNRPN_uc001yxa.1_Intron|SNRPN_uc021sga.1_Silent_p.K8K	NM_022808	NP_073719	P63162	RSMN_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 5, mRNA.	8					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		AGAGTAGCAAGATGCTGCAGC	0.433000									Prader-Willi syndrome					96			29		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56136651	56136651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:56136651G>A	uc002xyn.4	+	1	347	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	PCK1_uc010zzm.2_5'UTR	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	62					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCAGATGGAGGAAGAGGGCAT	0.607000														81			41		0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127186106	127186106	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:127186106C>T	uc004eum.3	-	0	277	c.80G>A	c.(79-81)gGa>gAa	p.G27E		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	27						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCCAATCTCTCCAGACAGGCC	0.443000														42			9		0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117666367	117666367	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117666367C>T	uc004bji.2	-	3	841	c.549G>A	c.(547-549)acG>acA	p.T183T	TNFSF8_uc022bmi.1_Intron	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	183					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	p.T183T(4)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						ATACGTGTTTCGTTTGCATTC	0.418000														107			57		0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38652442	38652442	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:38652442C>T	uc010qex.1	+	3	432	c.357C>T	c.(355-357)ttC>ttT	p.F119F	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Silent_p.F117F					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TTCATATGTTCTCCACAGCTG	0.428000														39			15		0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129781995	129781995	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:129781995G>A	uc001qfm.3	-	18	3211	c.2979C>T	c.(2977-2979)gcC>gcT	p.A993A	PRDM10_uc001qfj.3_Intron|PRDM10_uc001qfk.3_Intron|PRDM10_uc001qfl.3_Silent_p.A907A|PRDM10_uc010sbx.2_Silent_p.A903A|PRDM10_uc001qfn.3_Silent_p.A989A	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	984	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A993T(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGGAGGACGGGGCCGAGGCGG	0.572000														117			37		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139907193	139907193	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139907193G>A	uc004ckm.1	-	30	5189	c.5139C>T	c.(5137-5139)ctC>ctT	p.L1713L	ABCA2_uc022bpy.1_Silent_p.L1614L|ABCA2_uc022bpz.1_Silent_p.L1684L|ABCA2_uc011mem.1_Silent_p.L1683L|ABCA2_uc004ckl.1_Silent_p.L1614L|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1683					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGAGGTGAAGAGCAGGTACT	0.672000														49			14		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696018	222696018	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:222696018C>T	uc001hnh.1	-	8	2158	c.2100G>A	c.(2098-2100)agG>agA	p.R700R		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	700					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCAGGCTCTTCCTCCTCTTGC	0.572000														298			110		0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151337180	151337180	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151337180C>T	uc010pcy.2	-	12	1513	c.1383_splice	c.e12-1	p.R461_splice	SELENBP1_uc001exx.3_Splice_Site_p.R419_splice|SELENBP1_uc010pcz.2_Splice_Site_p.R357_splice|SELENBP1_uc001eya.3_Splice_Site_p.R355_splice	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	419					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACAGAGCCTTCCCTGGTGGAA	0.557000														156			16		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167517659	167517659	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:167517659C>T	uc010jjd.3	+	7	1596	c.1596C>T	c.(1594-1596)acC>acT	p.T532T	ODZ2_uc003lzq.2_Silent_p.T411T|ODZ2_uc003lzr.4_Silent_p.T300T	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.T365T(1)		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)		GCATACAGACCTTGGTTCAGA	0.507000														110			36		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454751	84454751	+	Missense_Mutation	SNP	G	A	A	rs146746846		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:84454751G>A	uc001vlk.3	-	0	1778	c.892C>T	c.(892-894)Cat>Tat	p.H298Y		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	298						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGTGTGGCATGATCCTCTTGC	0.562000														47			16		0	0	1	0	0
TTC30A	92104	broad.mit.edu	37	2	178482356	178482356	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:178482356G>A	uc002ulo.3	-	0	1339	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.	358					cell projection organization	cilium	binding	p.L358L(2)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			AGAAGTCATAGAGATAGGGTG	0.473000														110			38		0	0	1	0	0
SPDYE3	441272	broad.mit.edu	37	7	99917408	99917408	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99917408G>A	uc022aij.1	+	8	1751	c.1567G>A	c.(1567-1569)Gtt>Att	p.V523I	DQ601342_uc011kjm.1_5'Flank	NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN	Homo sapiens speedy homolog E3 (Xenopus laevis) (SPDYE3), mRNA.	523										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CAGGGCTTGGGTTTCCCCGGA	0.632000														75			19		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439945	150439945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150439945G>A	uc022apw.1	+	5	1470	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.E240K	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		GGCCTGCCAGGAAGACTACAG	0.577000														67			20		0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104679800	104679800	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104679800C>T	uc001kwm.3	+	0	1726	c.1563C>T	c.(1561-1563)ccC>ccT	p.P521P	CNNM2_uc001kwn.3_Silent_p.P521P|CNNM2_uc001kwl.3_Silent_p.P521P	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	521	CBS 2.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ATAACCACCCCTTGCACTTTG	0.448000														145			64		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137726994	137726994	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:137726994G>A	uc004cfe.3	+	64	5696	c.5314G>A	c.(5314-5316)Gag>Aag	p.E1772K	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1772	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCCAACGACGAGGAGATGTC	0.657000														41			14		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871921	51871921	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:51871921G>A	uc002xwo.3	+	1	2811	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	TSHZ2_uc021wex.1_Missense_Mutation_p.E639K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	642					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AACACCTCCAGAAGCCAAAAA	0.557000														68			31		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842090	5842090	+	Silent	SNP	C	T	T	rs146871183		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5842090C>T	uc010qzp.2	+	0	525	c.525C>T	c.(523-525)ttC>ttT	p.F175F	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGGAACTTCATCCCCCACA	0.512000														134			45		0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	933	933	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000237.1:933C>T	uc011mgu.1	-	1		c.285G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ctccaacctccagctcaccac	0.547000														44			6		0	0	1	0	0
IL17RE	132014	broad.mit.edu	37	3	9944701	9944701	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:9944701C>T	uc003btu.3	+	1	209	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	CIDEC_uc003bto.3_Intron|IL17RE_uc003btv.3_Missense_Mutation_p.R29C|IL17RE_uc011atn.1_Non-coding_Transcript|IL17RE_uc003bty.3_Non-coding_Transcript|IL17RE_uc003btx.3_5'UTR|IL17RE_uc010hcq.3_Missense_Mutation_p.R29C|IL17RE_uc003btw.3_Missense_Mutation_p.R29C	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	Homo sapiens interleukin 17 receptor E (IL17RE), transcript variant 5, mRNA.	29						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GATTGGCTTTCGCCACCTGCC	0.612000														75			36		0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797571	127797571	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:127797571C>T	uc003qbd.3	-	5	2465	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	534						integral to membrane											GCGGCTTCTTCCTTAACAAAC	0.403000														61			34		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24528491	24528491	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24528491C>T	uc001wlj.2	+	20	1796	c.1639C>T	c.(1639-1641)Ctg>Ttg	p.L547L	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	547										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCTGCAGTCACTGTCGGTGGC	0.647000														33			15		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036508	21036508	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21036508G>A	uc010sil.2	+	10	1719	c.1654G>A	c.(1654-1656)Ggt>Agt	p.G552S	SLCO1B3_uc001rek.3_Missense_Mutation_p.G552S|SLCO1B3_uc001rel.3_Missense_Mutation_p.G552S|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	552					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)					TGCAACAGGAGGTACCACATT	0.343000														111			12		0	0	1	0	0
GPR114	221188	broad.mit.edu	37	16	57604336	57604336	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:57604336C>T	uc002ely.3	+	9	1620	c.1097C>T	c.(1096-1098)cCa>cTa	p.P366L	GPR114_uc002elx.4_Missense_Mutation_p.P366L|GPR114_uc010vhr.2_Intron	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	366					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						TCAGGGGCCCCAGCCCTCCTG	0.627000														57			14		0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56345462	56345462	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56345462G>A	uc001sij.3	+	17	1746	c.1482G>A	c.(1480-1482)gtG>gtA	p.V494V	DGKA_uc001sih.1_Silent_p.V382V|DGKA_uc001sii.1_Silent_p.V352V|DGKA_uc009zod.1_Silent_p.V413V|DGKA_uc001sik.3_Silent_p.V494V|DGKA_uc001sil.3_Silent_p.V494V|DGKA_uc001sim.3_Silent_p.V494V|DGKA_uc001sin.3_Silent_p.V494V|DGKA_uc009zof.3_Silent_p.V140V|DGKA_uc001sio.3_Silent_p.V236V	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	494	DAGKc.				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)	TGAGTAAAGTGGTACATATGG	0.433000														112			11		0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44637951	44637951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:44637951G>A	uc021xnx.1	-	2	357	c.340C>T	c.(340-342)Cct>Tct	p.P114S	YIPF7_uc010ify.2_Missense_Mutation_p.P114S	NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA.	114						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						TCTAGCAAAGGAGGCTCTTCA	0.388000														39			4		0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28548732	28548732	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:28548732C>T	uc002hey.4	-	2	789	c.245G>A	c.(244-246)tGg>tAg	p.W82*		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	82					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CTTCTTGCCCCAGGTCTCCCG	0.567000														61			51		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41161948	41161948	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41161948C>T	uc003jmk.2	-	9	1515	c.1305G>A	c.(1303-1305)caG>caA	p.Q435Q	C6_uc003jml.1_Silent_p.Q435Q	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	435	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				TCTCTGCTCCCTGTATAAATG	0.398000														65			29		0	0	1	0	0
OR13J1	392309	broad.mit.edu	37	9	35870088	35870088	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35870088C>T	uc011lph.2	-	0	311	c.311G>A	c.(310-312)aGc>aAc	p.S104N		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily J, member 1 (OR13J1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L103L(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CGTGGACAGGCTCAGACACAT	0.597000														44			7		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109685438	109685438	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:109685438C>T	uc001tob.3	+	39	5718	c.5599C>T	c.(5599-5601)Caa>Taa	p.Q1867*	ACACB_uc001toc.3_Nonsense_Mutation_p.Q1867*|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Nonsense_Mutation_p.Q533*	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1867	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.P1866P(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCTGACTCCCCAAGACTACAC	0.418000														139			50		0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33693290	33693290	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33693290C>T	uc010jvf.2	-	5	1229	c.693G>A	c.(691-693)aaG>aaA	p.K231K	IP6K3_uc003ofb.2_Silent_p.K231K	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	231					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GGCGGGCCTTCTTCTCCTCCG	0.607000														36			13		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27185547	27185547	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:27185547C>T	uc011lno.2	+	7	1560	c.1118C>T	c.(1117-1119)cCc>cTc	p.P373L	TEK_uc003zqi.4_Missense_Mutation_p.P416L|TEK_uc011lnp.2_Missense_Mutation_p.P269L|TEK_uc003zqj.1_Missense_Mutation_p.P350L	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	416	Ig-like C2-type 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CGGATCCTCCCCCCTGACTCA	0.423000														140			36		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108051462	108051462	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:108051462C>T	uc001tmk.1	+	16	3803	c.3282C>T	c.(3280-3282)atC>atT	p.I1094I	BTBD11_uc001tml.1_Silent_p.I631I|BTBD11_uc001tmm.1_Silent_p.I173I	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	1094						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTCAGTCCATCCACTTGTCGT	0.507000														56			24		0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71796789	71796789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:71796789C>T	uc002llf.2	-	4	716	c.636G>A	c.(634-636)atG>atA	p.M212I	FBXO15_uc002lle.2_Missense_Mutation_p.M136I	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	136										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CAACATGCTCCATGATATATT	0.338000														46			13		0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18896805	18896805	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18896805C>T	uc002nke.3	-	12	1495	c.1459G>A	c.(1459-1461)Gtg>Atg	p.V487M	COMP_uc002nkd.3_Missense_Mutation_p.V454M|COMP_uc010xqj.2_Missense_Mutation_p.V434M	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	487					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGGTTAGGCACCAGGCGGCAG	0.716000														27			6		0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18896895	18896895	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18896895C>T	uc002nke.3	-	12	1405	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	COMP_uc002nkd.3_Missense_Mutation_p.E424K|COMP_uc010xqj.2_Missense_Mutation_p.E404K	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	457					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	p.E457K(2)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCTGAGTCCTCCTGGGCACTG	0.602000														29			17		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8234487	8234487	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:8234487G>A	uc003wsh.4	-	1	1432	c.1432C>T	c.(1432-1434)Cac>Tac	p.H478Y		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	478							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCTTCCGGGTGGGCCGCCATG	0.647000														32			7		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595325	140595325	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140595325G>A	uc003lja.1	+	0	1817	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	544	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGAGCAGCGAGGCGCTGGT	0.701000														71			32		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142561799	142561799	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142561799C>T	uc011kst.2	+	6	1028	c.241C>T	c.(241-243)Cct>Tct	p.P81S	EPHB6_uc011ksu.2_Missense_Mutation_p.P81S|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	81						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCAGGGGCCCCTCCAGGCAC	0.632000														202			77		0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52569401	52569401	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52569401G>A	uc010ydh.1	-	6	2194	c.1734C>T	c.(1732-1734)ttC>ttT	p.F578F	ZNF841_uc002pyl.1_Silent_p.F462F	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AATAGTAAGTGAAGACCATGC	0.418000														82			19		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220479908	220479908	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220479908C>T	uc002vml.3	+	23	3038	c.2995C>T	c.(2995-2997)Cct>Tct	p.P999S		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	999					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGCCCTCTCCTCCAGCAGC	0.657000														16			8		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52601976	52601976	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:52601976G>A	uc002xws.2	-	6	1328	c.990C>T	c.(988-990)tcC>tcT	p.S330S	BCAS1_uc010zza.1_Silent_p.S88S|BCAS1_uc010zzb.1_Silent_p.S278S|BCAS1_uc010gim.2_Silent_p.S278S|BCAS1_uc002xwt.2_Silent_p.S330S|BCAS1_uc010gil.1_Silent_p.S330S	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	330						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGGTCTCCTGGGATGTAAAGT	0.493000														173			75		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20328616	20328616	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20328616G>A	uc002dgv.3	-	8	1427	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	GP2_uc002dgw.3_Silent_p.F445F|GP2_uc002dgx.3_Silent_p.F301F|GP2_uc002dgy.3_Silent_p.F298F	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	448	ZP.					anchored to membrane|extracellular region|plasma membrane		p.F447L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGCAAACATGAACATCTGAA	0.488000														81			9		0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182852338	182852338	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:182852338C>T	uc001gpr.3	+	24	3154	c.2979C>T	c.(2977-2979)tcC>tcT	p.S993S	DHX9_uc001gps.3_Silent_p.S779S|DHX9_uc001gpt.3_Silent_p.S272S|DHX9_uc009wyd.3_5'UTR	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	993					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TTGTTATCTCCCTCCTGGCCT	0.398000														113			38		0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118764316	118764316	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:118764316G>A	uc002tlj.3	-	2	401	c.233C>T	c.(232-234)tCt>tTt	p.S78F	CCDC93_uc010fld.2_Missense_Mutation_p.S134F	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	78										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						ACCTATCGTAGAGTTTTCTTG	0.378000														34			13		0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72985229	72985229	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:72985229G>A	uc003tyh.3	-	6	1086	c.952C>T	c.(952-954)Ccc>Tcc	p.P318S	TBL2_uc011kex.2_Missense_Mutation_p.P282S|TBL2_uc010lbg.3_Missense_Mutation_p.P223S|TBL2_uc003tyi.3_Missense_Mutation_p.P153S|TBL2_uc011key.2_Missense_Mutation_p.P189S	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	318										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGCAAGTAGGGGTCCTGCTTC	0.587000														98			32		0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99758461	99758461	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99758461G>A	uc003utt.3	-	2	1568	c.551C>T	c.(550-552)tCt>tTt	p.S184F	C7orf43_uc003utr.3_5'Flank|C7orf43_uc003uts.3_5'Flank|GAL3ST4_uc022aii.1_Missense_Mutation_p.S122F|GAL3ST4_uc003utu.3_Missense_Mutation_p.S184F	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.	184					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCAGCCAAAGATGGTGACTT	0.562000														78			27		0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89650505	89650505	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89650505G>A	uc002fnp.3	+	5	857	c.727G>A	c.(727-729)Gac>Aac	p.D243N	CPNE7_uc002fnq.3_Missense_Mutation_p.D168N	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	243	C2 2.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GAAGCTGGACGACAAGGTGAG	0.677000														48			6		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99439496	99439496	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:99439496G>A	uc002szf.1	-	6	1534	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	414	Pro-rich.									NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						TCAGTCTCGGGGGGAGTCGTG	0.721000														14			6		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469482	10469482	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10469482G>A	uc003wtc.3	-	3	2355	c.2126C>T	c.(2125-2127)tCg>tTg	p.S709L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	709					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)		CCTGGTGCTCGATGAGCTTCC	0.617000														37			15		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232561373	232561373	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:232561373G>A	uc001hvg.3	-	15	4750	c.4592C>T	c.(4591-4593)cCg>cTg	p.P1531L	SIPA1L2_uc001hvf.3_Missense_Mutation_p.P605L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1531					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GTGGGCCCGCGGAGGCAGCGT	0.667000														15			9		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120935629	120935629	+	Missense_Mutation	SNP	C	T	T	rs147434701	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:120935629C>T	uc003vjq.4	+	22	3451	c.3004C>T	c.(3004-3006)Cat>Tat	p.H1002Y		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	1002						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					ATCGCCATATCATGTCAGAGG	0.378000														104			45		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306689	41306689	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:41306689C>T	uc002xkg.3	-	6	1154	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	PTPRT_uc010ggj.3_Missense_Mutation_p.E324K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	324	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TATTCCACTTCCTTCAGGATG	0.567000														68			30		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42489109	42489109	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42489109G>A	uc002osh.3	-	7	1108	c.954C>T	c.(952-954)atC>atT	p.I318I	ATP1A3_uc010xwf.2_Silent_p.I329I|ATP1A3_uc010xwg.2_Silent_p.I288I|ATP1A3_uc002osg.3_Silent_p.I318I|ATP1A3_uc010xwh.2_Silent_p.I331I			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	318					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CATTGGCCACGATGATGCCGA	0.612000														26			8		0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27528443	27528443	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:27528443G>A	uc003xga.1	+	5	1537	c.1396G>A	c.(1396-1398)Gga>Aga	p.G466R	SCARA3_uc003xgb.1_Intron	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	466	Collagen-like 1.				UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		AGGACCAAGAGGATTCAAAGG	0.662000														133			31		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17051521	17051521	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:17051521C>T	uc011awc.2	+	2	755	c.659C>T	c.(658-660)tCa>tTa	p.S220L	PLCL2_uc010het.1_Missense_Mutation_p.S102L|PLCL2_uc011awd.2_Missense_Mutation_p.S102L	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	228	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AATTATGAGTCACTGGATTTG	0.403000														147			58		0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958448	53958448	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53958448C>T	uc010eqp.3	+	6	1145	c.687C>T	c.(685-687)ctC>ctT	p.L229L	ZNF761_uc010ydy.2_Silent_p.L175L|ZNF761_uc002qbt.2_Silent_p.L175L	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACAGCTCACTCTTAAGGAAAC	0.363000														169			46		0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118306879	118306879	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:118306879C>T	uc001lcm.3	+	2	163	c.120C>T	c.(118-120)ccC>ccT	p.P40P		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	40					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CGGAAAGACCCCTCCATATAT	0.438000														107			22		0	0	1	0	0
LCMT1	51451	broad.mit.edu	37	16	25151534	25151534	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:25151534C>T	uc002dnx.1	+	3	528	c.370C>T	c.(370-372)Cca>Tca	p.P124S	LCMT1_uc002dny.1_Missense_Mutation_p.P124S	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	124							S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GGTTGACTTTCCAATGATTGT	0.403000														9			5		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3342181	3342181	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3342181G>A	uc001akf.3	+	12	3058	c.2976G>A	c.(2974-2976)tcG>tcA	p.S992S	PRDM16_uc001ake.3_Silent_p.S992S|PRDM16_uc009vlh.3_Silent_p.S692S|PRDM16_uc001akc.3_Silent_p.S991S	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	992	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCATCTCTTCGAACCTCCAGC	0.632000			T	EVI1	"""MDS, AML"""									76			35		0	0	1	0	0
CBLN3	643866	broad.mit.edu	37	14	24898065	24898065	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24898065C>T	uc001wpg.4	-	0	667	c.196G>A	c.(196-198)Gag>Aag	p.E66K	KHNYN_uc010tpc.2_5'Flank|KHNYN_uc001wph.4_5'Flank|KHNYN_uc010alw.3_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	Homo sapiens cerebellin 3 precursor (CBLN3), mRNA.	66						cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		GGGGGTGCCTCTCCCAGGGCT	0.692000														14			3		0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43012707	43012707	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:43012707G>A	uc010wji.2	-	2	492	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L	KIF18B_uc002iht.3_Silent_p.L131L|KIF18B_uc010wjh.2_Silent_p.L131L	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				ACGGTGGTCAGGTACATGATG	0.642000														28			15		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140779595	140779595	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140779595C>T	uc003lkf.2	+	0	1901	c.1901C>T	c.(1900-1902)gCc>gTc	p.A634V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.A634V|PCDHGC5_uc011dax.2_5'Flank|PCDHGC5_uc003lkh.2_5'Flank	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	640	Cadherin 6.				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)			AGGGACGCGGCCCGCCAGCGC	0.687000														33			12		0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7848085	7848085	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7848085C>T	uc001qte.3	-	0	276	c.240G>A	c.(238-240)ggG>ggA	p.G80G		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	80					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	p.R79C(1)|p.G80E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GAAGTACATTCCCGCGGACGC	0.488000														65			36		0	0	1	0	0
FLJ38723	0	broad.mit.edu	37	15	62539576	62539576	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:62539576C>T	uc002ajj.1	-	3	297	c.289G>A	c.(289-291)Gag>Aag	p.E97K	FLJ38723_uc002ain.1_Non-coding_Transcript|DQ583624_uc021sof.1_5'Flank|DQ596164_uc021sog.1_5'Flank|DQ590682_uc002ajw.3_5'Flank|DQ578824_uc010uhq.2_5'Flank|DQ573543_uc002ajx.3_5'Flank|DQ596057_uc002ajy.3_5'Flank|DQ586930_uc021soh.1_5'Flank|DQ592483_uc021soi.1_5'Flank					RecName: Full=Golgin subfamily A member 2-like protein 4;																		GCATACTGCTCTCTCTCCATT	0.567000														19			14		0	0	1	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43694429	43694429	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:43694429C>T	uc001jao.1	-	8	1093	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	RASGEF1A_uc001jap.1_Silent_p.L328L	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	Homo sapiens RasGEF domain family, member 1A (RASGEF1A), mRNA.	328	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						AAGTTTTCTTCAGCCTTGCCA	0.622000														87			49		0	0	1	0	0
CNIH3	149111	broad.mit.edu	37	1	224804900	224804900	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:224804900C>T	uc001hos.1	+	0	722	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	Homo sapiens cornichon homolog 3 (Drosophila) (CNIH3), mRNA.	8					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		TCGCTGCGTTCTGCTACATGC	0.597000														375			96		0	0	1	0	0
NELF	26012	broad.mit.edu	37	9	140344095	140344095	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140344095G>A	uc004cna.3	-	14	1683	c.1451C>T	c.(1450-1452)cCt>cTt	p.P484L	NELF_uc011mex.2_Missense_Mutation_p.P281L|NELF_uc010nci.3_Missense_Mutation_p.P228L|NELF_uc011mey.2_Non-coding_Transcript|NELF_uc004cnb.3_Missense_Mutation_p.P454L|NELF_uc004cmz.3_Missense_Mutation_p.P482L|NELF_uc011mez.2_Missense_Mutation_p.P461L|NELF_uc004cnc.3_Missense_Mutation_p.P459L|NELF_uc022bqi.1_Missense_Mutation_p.P461L	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	Homo sapiens nasal embryonic LHRH factor (NELF), transcript variant 1, mRNA.	484						nucleus|plasma membrane				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	10	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		GACCCTATAAGGAGTCATGAG	0.637000														13			6		0	0	1	0	0
LRRC3	81543	broad.mit.edu	37	21	45877172	45877172	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45877172C>T	uc021wjs.1	+	0	645	c.645C>T	c.(643-645)ttC>ttT	p.F215F	LRRC3_uc002zfa.3_Silent_p.F215F	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	215						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCGGCTGGTTCGCCATGGTGA	0.642000														82			8		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42375933	42375933	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42375933C>T	uc001zox.3	-	6	611	c.516G>A	c.(514-516)ggG>ggA	p.G172G		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	172					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CAGCGGTGCTCCCTGTGCTGT	0.627000														101			55		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832883	61832883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61832883C>T	uc001jky.3	-	36	8094	c.7756G>A	c.(7756-7758)Gaa>Aaa	p.E2586K	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.	2586					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						GTCAGTTTTTCTTCAGCCTCC	0.433000														93			44		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202735	56202735	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:56202735C>T	uc002lhj.4	-	4	4898	c.4684G>A	c.(4684-4686)Ggc>Agc	p.G1562S	ALPK2_uc002lhk.1_Missense_Mutation_p.G893S	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1562							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGAATTTGGCCTGTGGAGTTG	0.448000														96			27		0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219492822	219492822	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219492822C>T	uc021vwx.1	+	6	1182	c.843C>T	c.(841-843)ttC>ttT	p.F281F	PLCD4_uc002vik.1_Silent_p.F128F|PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	281					intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAGACATCTTCAACCCAGCCT	0.522000														78			25		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52818464	52818464	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52818464G>A	uc003dfs.3	+	10	1408	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.E318K|ITIH1_uc021wzg.1_Missense_Mutation_p.E172K|ITIH1_uc021wzh.1_Missense_Mutation_p.E172K|ITIH1_uc003dft.3_Missense_Mutation_p.E61K	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	460	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GAGAATCTACGAGGACCATGA	0.582000														55			24		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156787340	156787340	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156787340C>T	uc021ygm.1	+	24	3003	c.2865C>T	c.(2863-2865)ccC>ccT	p.P955P	CYFIP2_uc011ddn.2_Silent_p.P930P|CYFIP2_uc011ddo.2_Silent_p.P760P|CYFIP2_uc021ygn.1_Silent_p.P955P|CYFIP2_uc021ygo.1_Silent_p.P955P|CYFIP2_uc003lwt.3_Silent_p.P859P|CYFIP2_uc011ddp.2_Silent_p.P690P	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	981					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGTGATGCCCAAGATATGCC	0.527000														107			53		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19740991	19740991	+	Silent	SNP	G	A	A	rs144936310	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19740991G>A	uc002nnd.3	-	20	2811	c.2694C>T	c.(2692-2694)acC>acT	p.T898T	LPAR2_uc002nnb.4_5'Flank|LPAR2_uc002nna.4_5'Flank|LPAR2_uc002nnc.4_5'Flank|GMIP_uc010xrb.2_Silent_p.T872T|GMIP_uc010xrc.2_Silent_p.T869T	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	898					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ATGTGATGGGGGTCTCCTCGC	0.701000														25			8		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28229561	28229561	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:28229561C>T	uc009xky.3	-	12	2015	c.1917G>A	c.(1915-1917)cgG>cgA	p.R639R	ARMC4_uc010qds.2_Silent_p.R164R|ARMC4_uc010qdt.2_Silent_p.R331R|ARMC4_uc001itz.3_Silent_p.R639R|ARMC4_uc010qdu.1_Silent_p.R331R	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	639							binding	p.R639Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCTTCAGCAGCCGAGCCAACA	0.527000														112			44		0	0	1	0	0
CLPS	1208	broad.mit.edu	37	6	35765005	35765005	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:35765005G>A	uc003ole.2	-	0	117	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S	CLPS_uc021yyz.1_5'UTR|CLPS_uc003olf.2_Missense_Mutation_p.P21S	NM_001832	NP_001823	P04118	COL_HUMAN	Homo sapiens colipase, pancreatic (CLPS), transcript variant 1, mRNA.	21					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region				large_intestine(2)|lung(2)|prostate(1)	5						ATCCCCCGGGGGCCAGGAGCT	0.592000														135			24		0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	825227	825227	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:825227C>T	uc010krz.1	+	12	2525	c.2505C>T	c.(2503-2505)caC>caT	p.H835H	HEATR2_uc003siz.2_Silent_p.H703H|HEATR2_uc003sjb.2_Silent_p.H215H|HEATR2_uc003sjc.2_Silent_p.H260H	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	835							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TCCACAAGCACCGCTCGGCCA	0.602000														61			32		0	0	1	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67429105	67429105	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:67429105G>A	uc010vjm.2	-	9	1334	c.1030C>T	c.(1030-1032)Ccg>Tcg	p.P344S	TPPP3_uc002etb.3_5'Flank|TPPP3_uc002eta.3_5'Flank	NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	Homo sapiens zinc finger, DHHC-type containing 1 (ZDHHC1), mRNA.	344						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GTCGGATCCGGGGAGGCAGGG	0.637000														13			10		0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137777102	137777102	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:137777102G>A	uc004cfg.1	+	4	329	c.319G>A	c.(319-321)Gac>Aac	p.D107N	FCN2_uc004cfh.1_Missense_Mutation_p.D69N	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	107	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TACCTGCAAGGACCTGCTAGA	0.667000														35			12		0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63981490	63981490	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:63981490C>T	uc003dlv.3	+	11	2545	c.1992C>T	c.(1990-1992)tcC>tcT	p.S664S	ATXN7_uc003dlw.4_Silent_p.S664S|ATXN7_uc021wzy.1_Silent_p.S664S|ATXN7_uc011bfn.2_Silent_p.S519S	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	664	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CGGTTCCTTCCTCCCCCATGT	0.512000														91			44		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439658	145439658	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:145439658C>T	uc003lnt.3	+	8	2023	c.1785C>T	c.(1783-1785)tcC>tcT	p.S595S	SH3RF2_uc011dbl.1_Silent_p.S595S|SH3RF2_uc011dbm.1_Silent_p.S80S|SH3RF2_uc003lnu.3_Silent_p.S86S|SH3RF2_uc011dbn.1_Silent_p.S86S|SH3RF2_uc011dbo.2_Silent_p.S52S	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	595							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.S595F(1)		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)			GGATCCACTCCGCGGCCAGCT	0.632000														67			21		0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70387219	70387219	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:70387219C>T	uc004dzd.2	+	6	1606	c.1272C>T	c.(1270-1272)gtC>gtT	p.V424V	NLGN3_uc004dzb.3_Silent_p.V404V|NLGN3_uc011mps.2_Silent_p.V384V|NLGN3_uc004dzc.3_Silent_p.V287V|NLGN3_uc004dze.3_Silent_p.V222V	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	424					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					AGGATGGTGTCTCTGGCACTG	0.517000														20			31		0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100117458	100117458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:100117458C>T	uc004egj.3	-	5	800	c.594G>A	c.(592-594)agG>agA	p.R198R	NOX1_uc004egl.4_Silent_p.R198R|NOX1_uc010nne.3_Silent_p.R161R	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	198	Ferric oxidoreductase.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CAAAATAACTCCTCCGGATGA	0.438000														68			114		0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135386427	135386427	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:135386427C>T	uc003vtb.3	-	7	1403	c.714_splice	c.e7+1	p.Q238_splice	SLC13A4_uc003vta.3_Splice_Site_p.Q237_splice	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	237						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CGTTCTATTACCTGGGATGGG	0.512000														48			21		0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35800925	35800925	+	Silent	SNP	C	T	T	rs148978165		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35800925C>T	uc002nyy.2	+	7	1578	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	MAG_uc002nyx.2_Silent_p.F460F|MAG_uc010eds.2_Silent_p.F435F|MAG_uc002nyz.2_Silent_p.F460F	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	460	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGCGGGAGTTCGTGTACTCGG	0.682000														103			23		0	0	1	0	0
SNTB2	6645	broad.mit.edu	37	16	69317986	69317986	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:69317986C>T	uc002ewu.3	+	4	1204	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F	SNTB2_uc021tkg.1_Non-coding_Transcript	NM_006750	NP_006741	Q13425	SNTB2_HUMAN	Homo sapiens syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) (SNTB2), mRNA.	395	PH 2.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CGATCCCCCTCCCTTGGATCT	0.483000														123			28		0	0	1	0	0
GTPBP10	85865	broad.mit.edu	37	7	89983814	89983814	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:89983814C>T	uc003ukm.2	+	2	347	c.270C>T	c.(268-270)atC>atT	p.I90I	GTPBP10_uc003ukl.1_Intron|GTPBP10_uc003uki.1_Silent_p.I107I|GTPBP10_uc003ukj.1_Silent_p.I81I|GTPBP10_uc003ukk.1_Non-coding_Transcript|GTPBP10_uc003ukn.2_Intron|GTPBP10_uc003uko.2_5'UTR	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	Homo sapiens GTP-binding protein 10 (putative) (GTPBP10), transcript variant 2, mRNA.	90					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						ACTGTGAAATCCCTGTGCCTG	0.333000														92			37		0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214646	3214646	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3214646C>T	uc002fvi.2	+	0	1108	c.1042C>T	c.(1042-1044)Cta>Tta	p.L348L						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		TAGCCATGGCCTATGACCGCT	0.567000														35			22		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279296	16279296	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:16279296G>A	uc010gqp.2	-	3	979	c.927C>T	c.(925-927)ggC>ggT	p.G309G	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.G28G|POTEH_uc002zlj.1_Silent_p.G144G	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	309										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTGGTGTGAGGCCATGCTGTA	0.323000														341			22		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87037411	87037411	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87037411C>T	uc003uiv.1	-	24	3297	c.3221G>A	c.(3220-3222)gGg>gAg	p.G1074E	ABCB4_uc003uiw.1_Missense_Mutation_p.G1074E|ABCB4_uc003uix.1_Missense_Mutation_p.G1027E	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	1074	ABC transporter 2.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CGTGCTCTTCCCACAGCCACT	0.557000														118			25		0	0	1	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332740	71332740	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:71332740G>A	uc001jpp.3	-	1	306	c.60C>T	c.(58-60)tcC>tcT	p.S20S	NEUROG3_uc021pry.1_Silent_p.S20S	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN	Homo sapiens neurogenin 3 (NEUROG3), mRNA.	20					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CTCTGGGGAAGGACCGCTCCG	0.672000														62			24		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377563	113377563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:113377563G>A	uc003eam.3	-	6	3377	c.2966C>T	c.(2965-2967)tCa>tTa	p.S989L	KIAA2018_uc003eal.3_Missense_Mutation_p.S933L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	989					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.D988Y(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGTATCTGATGAATCTTGCTC	0.393000														145			41		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216497518	216497518	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:216497518C>T	uc001hku.1	-	6	1707	c.1320G>A	c.(1318-1320)caG>caA	p.Q440Q	USH2A_uc001hkv.3_Silent_p.Q440Q	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	440	Laminin N-terminal.				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)		ACTTGGAAAGCTGAAGACAGT	0.358000										HNSCC(13;0.011)				33			12		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3428168	3428168	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3428168G>A	uc001akl.3	-	8	1287	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L	MEGF6_uc001akk.3_Silent_p.L249L	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	354	EGF-like 6.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CATGTGCACAGGGGCCCAGCA	0.642000														63			22		0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46332449	46332449	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46332449G>A	uc002pdn.3	-	13	2009	c.1764C>T	c.(1762-1764)atC>atT	p.I588I	SYMPK_uc002pdo.1_Silent_p.I588I|SYMPK_uc002pdp.1_Silent_p.I588I	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	588					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGCTGGCCAGGATCTTTATGC	0.632000														49			20		0	0	1	0	0
GATM	2628	broad.mit.edu	37	15	45669010	45669010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:45669010C>T	uc001zvc.3	-	1	406	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	GATM_uc001zvb.3_5'UTR|GATM_uc010uev.1_Missense_Mutation_p.R79Q|LOC145663_uc021sko.1_5'Flank	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	26					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	TGTCAAGGTTCGTCCAAGCTT	0.488000														21			6		0	0	1	0	0
PRLHR	2834	broad.mit.edu	37	10	120354453	120354453	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:120354453G>A	uc001ldp.1	-	1	443	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	PRLHR_uc021pzm.1_Silent_p.L102L	NM_004248	NP_004239	P49683	PRLHR_HUMAN	Homo sapiens prolactin releasing hormone receptor (PRLHR), mRNA.	102					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GACAAGGCCAGGTTGCCGATG	0.687000														58			29		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103474059	103474059	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:103474059G>A	uc001dum.3	-	14	1997	c.1679C>T	c.(1678-1680)tCa>tTa	p.S560L	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.S548L|COL11A1_uc001dun.3_Missense_Mutation_p.S509L|COL11A1_uc009weh.3_Missense_Mutation_p.S432L	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	548	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	p.G559V(1)		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)		GGCCCCAGATGAACCAGGCCC	0.373000														81			44		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50163489	50163489	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:50163489C>T	uc010njr.2	-	3	898	c.854G>A	c.(853-855)cGa>cAa	p.R285Q		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	285	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGTGATTTTTCGTTGTGGTGT	0.383000														22			47		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120980043	120980043	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:120980043C>T	uc010rzo.2	+	2	322	c.322C>T	c.(322-324)Cga>Tga	p.R108*		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	108	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAATGGAATTCGAGGCGAGAT	0.507000														46			24		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19426235	19426235	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19426235C>T	uc010tcj.1	-	0		c.19875G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTTGAGGGTTCTTCTTGGCTT	0.383000														34			10		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826217	46826217	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46826217G>A	uc003oyo.3	-	16	3712	c.3423C>T	c.(3421-3423)gcC>gcT	p.A1141A	GPR116_uc011dwj.1_Silent_p.A696A|GPR116_uc011dwk.1_Silent_p.A570A|GPR116_uc003oyp.3_Silent_p.A999A|GPR116_uc003oyq.3_Silent_p.A1141A|GPR116_uc010jzi.1_Silent_p.A813A	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1141					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGACCGAGATGGCAAGTGGGC	0.552000														40			9		0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52732463	52732463	+	Silent	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:52732463G>C	uc001cto.3	+	5	2587	c.2415G>C	c.(2413-2415)gtG>gtC	p.V805V	ZFYVE9_uc001ctp.3_Intron	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	805	SBD.				SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CTCCCACTGTGATGGTACCTG	0.507000														57			24		0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906301	5906301	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5906301T>A	uc010qzs.2	+	0	779	c.779T>A	c.(778-780)tTt>tAt	p.F260Y	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S259Y(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTTTTTCTTTTATGACACAT	0.423000														129			59		0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164761751	164761751	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:164761751C>T	uc001gct.3	+	2	749	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	PBX1_uc010pku.2_Nonsense_Mutation_p.Q96*|PBX1_uc001gcs.3_Nonsense_Mutation_p.Q96*|PBX1_uc010pkv.2_Nonsense_Mutation_p.Q13*|PBX1_uc010pkw.1_5'UTR	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	96					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CCGAGGAGCCCAGGAGGAGGA	0.532000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									35			14		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149513291	149513291	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149513291G>A	uc003lro.3	-	5	1261	c.792C>T	c.(790-792)ttC>ttT	p.F264F	PDGFRB_uc010jhd.3_Silent_p.F103F|PDGFRB_uc011dcg.1_Silent_p.F264F	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	264	Ig-like C2-type 3.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATCCAAGAGGAAGTCAGTCA	0.602000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									112			42		0	0	1	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104318	26104318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:26104318C>T	uc003ngi.3	+	0	143	c.143C>T	c.(142-144)tCc>tTc	p.S48F		NM_003542	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4c (HIST1H4C), mRNA.	48					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AAGCGCATTTCCGGTCTTATC	0.537000														53			21		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140730381	140730381	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140730381G>A	uc003ljo.2	+	0	554	c.554G>A	c.(553-555)gGa>gAa	p.G185E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.G185E	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	188	Cadherin 2.				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)			AGTCCTGATGGAAGTAAATAT	0.468000														207			42		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68280418	68280418	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:68280418G>A	uc009xpn.1	-	10	1611	c.1488C>T	c.(1486-1488)gcC>gcT	p.A496A	CTNNA3_uc001jmw.2_Silent_p.A496A|CTNNA3_uc001jmx.4_Silent_p.A496A	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	496					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGTCATCTACGGCTTCAGTGA	0.358000														77			41		0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	94797	94797	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:94797C>T	uc001ifi.2	-	1	113	c.113G>A	c.(112-114)gGg>gAg	p.G38E		NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA.	38					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GTGGCTGTCCCCGTGGTAGGT	0.647000														8			5		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30672584	30672584	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30672584G>A	uc003nrg.4	-	9	4816	c.4376C>T	c.(4375-4377)aCc>aTc	p.T1459I	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.T1066I	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1459	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GTCTGTGGAGGTGGAAGGCTG	0.567000								Other conserved DNA damage response genes						188			129		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138657008	138657008	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:138657008C>T	uc011mdq.2	+	11	1241	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	KCNT1_uc011mdr.2_Silent_p.F216F|KCNT1_uc010nbf.3_Silent_p.F344F|KCNT1_uc004cgo.1_Silent_p.F138F	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	389						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCATGGACTTCCTGAACGAGT	0.647000														85			45		0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227843293	227843293	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:227843293C>T	uc021pjy.1	+	3	1683	c.1507C>T	c.(1507-1509)Ctt>Ttt	p.L503F	ZNF678_uc001hqw.2_Missense_Mutation_p.L448F|ZNF678_uc009xet.2_Intron|ZNF678_uc009xeu.2_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA.	503					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ATCCTCAATCCTTAGTAAGCA	0.378000														78			26		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131671830	131671830	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:131671830C>T	uc021qav.1	-	7	726	c.625G>A	c.(625-627)Ggc>Agc	p.G209S	EBF3_uc001lki.2_Missense_Mutation_p.G223S	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	223					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AGCACGTGGCCGTCCACGTTG	0.527000														36			12		0	0	1	0	0
RNFT2	84900	broad.mit.edu	37	12	117191865	117191865	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117191865G>A	uc009zwn.3	+	5	860	c.627_splice	c.e5+1	p.K209_splice	RNFT2_uc001twb.4_Splice_Site_p.K209_splice|RNFT2_uc001twa.4_Splice_Site_p.K119_splice	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA.	209						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		TCTCACTGAAGGTGAGTCACT	0.542000														52			21		0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37415610	37415610	+	Silent	SNP	G	A	A	rs140600686	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:37415610G>A	uc002rpu.3	-	0	81	c.60C>T	c.(58-60)atC>atT	p.I20I	SULT6B1_uc010yni.2_Non-coding_Transcript	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA.	58						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				ATGCTAGCACGATGTCATCAT	0.463000														110			21		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178564819	178564819	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178564819G>A	uc003mjw.3	-	11	2004	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	634	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGCCGTGCTCGAAGTACAGGT	0.692000														8			3		0	0	1	0	0
FAM73A	374986	broad.mit.edu	37	1	78269072	78269072	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:78269072C>T	uc010ork.2	+	3	523	c.491C>T	c.(490-492)tCt>tTt	p.S164F	FAM73A_uc001dhx.3_Missense_Mutation_p.S164F|FAM73A_uc010orl.2_Missense_Mutation_p.S126F|FAM73A_uc001dhy.1_5'UTR	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	164						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TATTCAGGTTCTGCACAGAGT	0.299000														48			16		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975656	44975656	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:44975656C>T	uc001wvn.3	-	0	844	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	179						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGGGCATCTTCCTTTGACTTT	0.398000														186			73		0	0	1	0	0
ADRBK2	157	broad.mit.edu	37	22	26118352	26118352	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26118352C>T	uc003abx.4	+	20	2149	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	668							ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CCTCAACAAACCTCGGTCAGG	0.552000														70			29		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2150448	2150448	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2150448G>A	uc002cos.1	-	26	9726	c.9517C>T	c.(9517-9519)Ccg>Tcg	p.P3173S	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.P3173S|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	3173	PLAT.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGCTGTGCGGGGTGGCGATC	0.652000														72			7		0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19286458	19286458	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:19286458C>T	uc002gvn.3	+	6	2751	c.2365C>T	c.(2365-2367)Cct>Tct	p.P789S	MAPK7_uc002gvo.3_Missense_Mutation_p.P650S|MAPK7_uc002gvq.3_Missense_Mutation_p.P789S|MAPK7_uc002gvp.3_Missense_Mutation_p.P789S|DM110819_uc010vyt.1_5'Flank	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	789	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TGGCATGAACCCTGCCGATAT	0.612000														28			24		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6030491	6030491	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6030491C>T	uc001qnm.2	-	2	309	c.237G>A	c.(235-237)ttG>ttA	p.L79L	ANO2_uc021qtt.1_Silent_p.L83L	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	83						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GACGGGCCTCCAAGGACACAG	0.562000														44			10		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143034	55143034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55143034G>A	uc002qgj.3	+	4	494	c.154G>A	c.(154-156)Ggc>Agc	p.G52S	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.G52S|LILRB1_uc002qgk.3_Missense_Mutation_p.G52S|LILRB1_uc002qgm.3_Missense_Mutation_p.G52S|LILRB1_uc010erq.3_Missense_Mutation_p.G52S|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.	52	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			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)		GTGTCAGGGGGGCCAGGAGAC	0.572000										HNSCC(37;0.09)				101			50		0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918696	15918696	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15918696C>T	uc002nbq.2	-	0	241	c.152G>A	c.(151-153)aGc>aAc	p.S51N		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GCTGCGCTCGCTCCAGACGGT	0.622000														69			36		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33873829	33873829	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:33873829C>T	uc001zhi.3	+	13	1628	c.1558C>T	c.(1558-1560)Ctc>Ttc	p.L520F	RYR3_uc010bar.3_Missense_Mutation_p.L520F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	520					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTGAACCTCCTCTACAAATT	0.448000														75			24		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22265829	22265829	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22265829C>T	uc010air.1	+	1	244	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	TRA_uc021rpa.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: SEB 172.																		AGCAGCCTCACTGGAGTTGGG	0.453000														179			23		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25994397	25994397	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:25994397G>A	uc002rgs.2	-	4	637	c.416C>T	c.(415-417)tCc>tTc	p.S139F	ASXL2_uc002rgt.1_5'UTR	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	139	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.P139L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACTGCGGGGAGGACGACGA	0.463000														41			12		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532512	71532512	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:71532512C>T	uc004agu.3	+	8	1125	c.820C>T	c.(820-822)Cat>Tat	p.H274Y	PIP5K1B_uc011lrq.2_Missense_Mutation_p.H274Y|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	274	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GTTGGGAATTCATTTCCTGGA	0.473000														295			99		0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	100996191	100996191	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:100996191G>A	uc002bwa.3	-	12	1510	c.939C>T	c.(937-939)atC>atT	p.I313I	CERS3_uc002bvz.3_Silent_p.I302I|CERS3_uc002bwb.3_Silent_p.I302I	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	302	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GGTTGAGGAAGATGTATGAAA	0.398000														90			19		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176707784	176707784	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176707784C>T	uc003mfr.4	+	17	5979	c.5841C>T	c.(5839-5841)ttC>ttT	p.F1947F	NSD1_uc003mft.4_Silent_p.F1678F|NSD1_uc003mfs.1_Silent_p.F1844F|NSD1_uc011dfx.2_Silent_p.F1595F	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1947	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTGAAATTTTCCGCACATTAC	0.463000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				54			27		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234769	21234769	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21234769C>T	uc002red.3	-	25	5099	c.4971G>A	c.(4969-4971)acG>acA	p.T1657T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1657					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCAAGTTGGTCGTTGCACTGG	0.453000														56			16		0	0	1	0	0
GNAT3	346562	broad.mit.edu	37	7	80108268	80108268	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:80108268C>T	uc011kgu.2	-	3	350	c.350G>A	c.(349-351)gGt>gAt	p.G117D	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	117					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TGTCATGCCACCATCTTCCAG	0.418000														103			33		0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46338424	46338424	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46338424G>A	uc002pdn.3	-	10	1550	c.1305C>T	c.(1303-1305)acC>acT	p.T435T	SYMPK_uc002pdo.1_Silent_p.T435T|SYMPK_uc002pdp.1_Silent_p.T435T|SYMPK_uc002pdq.2_Silent_p.T435T	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	435					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ACTCCACGGGGGTGTAGATGG	0.607000														83			23		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976098	20976098	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20976098G>A	uc010vbe.2	-	52	9108	c.9108C>T	c.(9106-9108)ttC>ttT	p.F3036F	DNAH3_uc010vbd.2_Silent_p.F471F	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3036					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGAAGTCACTGAAGCCAGGGA	0.522000														40			17		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152515623	152515623	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152515623G>A	uc021vrb.1	-	44	6060	c.6031C>T	c.(6031-6033)Ccc>Tcc	p.P2011S	NEB_uc002txu.3_Missense_Mutation_p.P2011S|NEB_uc021vrc.1_Missense_Mutation_p.P2011S|NEB_uc010fnx.3_Missense_Mutation_p.P2011S|NEB_uc021vrd.1_Missense_Mutation_p.P2011S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2011					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATAATCTGGGGGATATCAGGC	0.378000														168			73		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238256999	238256999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:238256999C>T	uc002vwl.2	-	29	7244	c.6959G>A	c.(6958-6960)gGa>gAa	p.G2320E	COL6A3_uc002vwo.2_Missense_Mutation_p.G2114E|COL6A3_uc010znj.1_Missense_Mutation_p.G1713E|COL6A3_uc002vwp.1_Missense_Mutation_p.G141E	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2320	Collagen-like 5.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TACCTTTGGTCCTGGGTATCC	0.363000														98			36		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41142988	41142988	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41142988C>T	uc003jmk.2	-	17	2954	c.2744G>A	c.(2743-2745)gGa>gAa	p.G915E	C6_uc003jml.1_Missense_Mutation_p.G915E	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	915	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				TCTTATAGTTCCCACTTCACA	0.438000														72			30		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474636	140474636	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140474636T>G	uc003lil.3	+	0	400	c.262T>G	c.(262-264)Tta>Gta	p.L88V	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	88	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATTTGTTGTTAAATGAGAA	0.512000														93			43		0	0	1	0	0
ALDOA	226	broad.mit.edu	37	16	30081507	30081507	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30081507C>T	uc010veg.2	+	9	1499	c.1231C>T	c.(1231-1233)Ctc>Ttc	p.L411F	BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.3_Missense_Mutation_p.L357F|ALDOA_uc002dvw.3_Missense_Mutation_p.L357F|ALDOA_uc002dvz.3_Missense_Mutation_p.L357F|ALDOA_uc002dwa.4_Missense_Mutation_p.L357F|ALDOA_uc002dwc.3_Missense_Mutation_p.L357F	NM_001243177	NP_001230106	P04075	ALDOA_HUMAN	Homo sapiens aldolase A, fructose-bisphosphate (ALDOA), transcript variant 6, mRNA.	357					ATP biosynthetic process|actin filament organization|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	I band|actin cytoskeleton|cytosol|extracellular vesicular exosome|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CAGCGAGTCCCTCTTCGTCTC	0.632000														88			23		0	0	1	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032182	46032182	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46032182C>T	uc002zfo.1	+	0	187	c.165C>T	c.(163-165)tcC>tcT	p.S55S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	55	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						AGCCCCGCTCCTGTGCCTCCA	0.672000														86			8		0	0	1	0	0
CELF6	60677	broad.mit.edu	37	15	72581617	72581617	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72581617G>A	uc002aui.2	-	6	1671	c.1210C>T	c.(1210-1212)Ccg>Tcg	p.P404S	BC034424_uc002aug.3_Intron|CELF6_uc002auk.3_Non-coding_Transcript|CELF6_uc010biv.1_Non-coding_Transcript|CELF6_uc010ukl.1_Missense_Mutation_p.P182S|CELF6_uc010biw.2_Missense_Mutation_p.P185S|CELF6_uc002auh.2_Missense_Mutation_p.P298S|CELF6_uc010ukm.1_Missense_Mutation_p.P298S|CELF6_uc002auj.2_Missense_Mutation_p.P185S	NM_001172685	NP_001166156	Q96J87	CELF6_HUMAN	Homo sapiens CUGBP, Elav-like family member 6 (CELF6), transcript variant 3, mRNA.	298	RRM 3.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTGCCAGGCGGGGAGTTGGCT	0.731000														8			5		0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180166062	180166062	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:180166062C>A	uc001gnz.3	+	11	2209	c.2134C>A	c.(2134-2136)Ctc>Atc	p.L712I	QSOX1_uc001gny.3_Intron|FLJ23867_uc001god.4_5'Flank	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	712					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGACATCAGCCTCTGTGTGGG	0.647000														42			22		1.64293e-13	1.65044e-13	1	1	0
ADPRH	141	broad.mit.edu	37	3	119305142	119305142	+	Silent	SNP	G	A	A	rs142760415	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:119305142G>A	uc003ecs.3	+	3	607	c.309G>A	c.(307-309)tcG>tcA	p.S103S	ADPRH_uc010hqv.3_Silent_p.S103S|ADPRH_uc011bjb.2_5'UTR|ADPRH_uc003ect.3_Silent_p.S103S	NM_001125	NP_001116	P54922	ADPRH_HUMAN	Homo sapiens ADP-ribosylarginine hydrolase (ADPRH), mRNA.	103					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GTGGTGCCTCGGTGCACAACG	0.567000														249			21		0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77950759	77950759	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:77950759G>A	uc001xtz.3	-	2	608	c.534C>T	c.(532-534)ccC>ccT	p.P178P	ISM2_uc001xua.3_Silent_p.P178P|ISM2_uc001xty.3_Silent_p.P90P	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	178						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CCTGGGTCCTGGGAGGCGTGG	0.592000														105			10		0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160970835	160970835	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160970835G>A	uc009wtt.3	-	2	486	c.216C>T	c.(214-216)ctC>ctT	p.L72L	F11R_uc010pjv.2_Silent_p.L72L|F11R_uc010pjw.2_Silent_p.L76L|F11R_uc001fxf.4_Silent_p.L72L	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	Homo sapiens F11 receptor (F11R), mRNA.	72	Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TATAGCAAACGAGTCTGGTGG	0.493000														41			22		0	0	1	0	0
C3orf36	80111	broad.mit.edu	37	3	133647250	133647250	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:133647250G>A	uc003epz.1	-	0	1407	c.398C>T	c.(397-399)tCt>tTt	p.S133F		NM_025041	NP_079317	Q3SXR2	CC036_HUMAN	Homo sapiens chromosome 3 open reading frame 36 (C3orf36), mRNA.	133	Poly-Ser.									breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GAAGGTGGAAGAGGAAGAGAG	0.592000														45			14		0	0	1	0	0
PA2G4	5036	broad.mit.edu	37	12	56504236	56504236	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56504236T>C	uc001sjm.3	+	7	1102	c.683T>C	c.(682-684)gTt>gCt	p.V228A		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	228					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GCTGTGGATGTTCTCGTCAGC	0.408000														66			38		0	0	1	0	0
CHST14	113189	broad.mit.edu	37	15	40764056	40764056	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40764056C>T	uc001zlw.3	+	0	897	c.644C>T	c.(643-645)cCc>cTc	p.P215L		NM_130468	NP_569735	Q8NCH0	CHSTE_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 (CHST14), mRNA.	215					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GTGCGGGAGCCCTTGGAACGC	0.592000														104			29		0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183777626	183777626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183777626C>T	uc003fmk.3	+	7	970	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	312						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTGTCTACTTCGCCCTGTGCC	0.517000														114			9		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92624013	92624013	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92624013G>A	uc001pdj.4	+	24	13425	c.13408G>A	c.(13408-13410)Gaa>Aaa	p.E4470K	FAT3_uc001pdi.4_Missense_Mutation_p.E942K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4502	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCCCCAACGAAACGGATTT	0.592000										TCGA Ovarian(4;0.039)				41			18		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175097744	175097744	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175097744C>T	uc001gkl.1	+	14	3305	c.3192C>T	c.(3190-3192)ttC>ttT	p.F1064F		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1064	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTGCCCGTTTCCCACACCCTT	0.537000														80			31		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	336757	336757	+	Nonsense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:336757G>C	uc001qic.2	-	7	999	c.909C>G	c.(907-909)taC>taG	p.Y303*	SLC6A13_uc009zdj.2_Nonsense_Mutation_p.Y303*|SLC6A13_uc010sdl.2_Nonsense_Mutation_p.Y211*|SLC6A13_uc010sdm.1_Nonsense_Mutation_p.Y184*	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	303					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GGTACTTGTTGTAGCTGCCCA	0.562000														39			17		0	0	1	0	0
LSS	4047	broad.mit.edu	37	21	47636337	47636337	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:47636337G>A	uc002zij.3	-	6	828	c.749C>T	c.(748-750)gCc>gTc	p.A250V	LSS_uc002zil.2_Missense_Mutation_p.A250V|LSS_uc011afv.1_Missense_Mutation_p.A239V|LSS_uc002zik.2_Missense_Mutation_p.A170V	NM_001001438	NP_002331	P48449	ERG7_HUMAN	Homo sapiens lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) (LSS), transcript variant 2, mRNA.	250					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GTCTTCCGCGGCACTCAGCCG	0.652000														57			14		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52323898	52323898	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:52323898C>T	uc003xqu.4	-	15	2075	c.1974G>A	c.(1972-1974)atG>atA	p.M658I	PXDNL_uc003xqt.4_5'Flank	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	658					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGCTCTTGCCATTTCCACAA	0.498000														14			10		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480281	73480281	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:73480281G>A	uc003xzb.3	+	1	900	c.312G>A	c.(310-312)cgG>cgA	p.R104R		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	104					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.R104W(1)		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)			ATTTCTACCGGACCGGGAAAC	0.463000														64			29		0	0	1	0	0
VGLL1	51442	broad.mit.edu	37	X	135618348	135618348	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:135618348G>A	uc004ezy.3	+	1	339	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_016267	NP_057351	Q99990	VGLL1_HUMAN	Homo sapiens vestigial like 1 (Drosophila) (VGLL1), mRNA.	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					GAGCCCCCAGGAATTGACCCC	0.537000														20			36		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160788098	160788098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160788098G>A	uc001fwu.3	+	5	1483	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	LY9_uc001fwv.3_Missense_Mutation_p.R478Q|LY9_uc001fww.3_Missense_Mutation_p.R388Q|LY9_uc001fwy.1_Missense_Mutation_p.R290Q|LY9_uc001fwz.3_Missense_Mutation_p.R130Q	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	478					cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.R478*(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATTTGGAAGCGAAAAGGACGG	0.522000														104			9		0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799809	159799809	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159799809G>A	uc001fue.4	+	1	404	c.194G>A	c.(193-195)cGa>cAa	p.R65Q		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	65						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					ACGTTTTTCCGAGGCTCCCTG	0.637000														159			80		0	0	1	0	0
IL17B	27190	broad.mit.edu	37	5	148756469	148756469	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:148756469C>T	uc003lqo.3	-	1	191	c.141G>A	c.(139-141)ctG>ctA	p.L47L		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	Homo sapiens interleukin 17B (IL17B), mRNA.	47					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACCAGGTCCAGTGGCACCT	0.652000														81			30		0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143862	55143862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:55143862C>T	uc002lgo.3	+	1	1454	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	474					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GCAACTTCTTCATGAACGCCC	0.577000														71			13		0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67053666	67053666	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:67053666G>A	uc003dmy.3	+	2	328	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	92	BTB.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AAAGAAGTTCGAATAGTTGGT	0.373000														144			66		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176002773	176002773	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176002773G>A	uc021yie.1	+	10	1167	c.893G>A	c.(892-894)aGg>aAg	p.R298K	CDHR2_uc003mem.2_Missense_Mutation_p.R298K|CDHR2_uc003men.1_Missense_Mutation_p.R298K	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	298	Cadherin 3.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGGGTGATCAGGGTCAACGGC	0.642000														3			3		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38793988	38793988	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38793988C>T	uc021yzh.1	+	28	4013	c.3904C>T	c.(3904-3906)Cga>Tga	p.R1302*	DNAH8_uc003ooe.2_Nonsense_Mutation_p.R1085*	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTTACTCTGTCGATATCTGAA	0.328000														44			16		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34646010	34646010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34646010C>T	uc010ucc.2	+	4	1394	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	C15orf55_uc010ucd.2_Missense_Mutation_p.P328S|C15orf55_uc001zif.3_Missense_Mutation_p.P310S	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	310						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GGGCCTGTCTCCTGCAACCCC	0.552000			T	"""BRD3, BRD4"""	lethal midline carcinoma									85			38		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16861084	16861084	+	Missense_Mutation	SNP	G	A	A	rs148029259	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16861084G>A	uc002neu.4	+	5	2053	c.1631G>A	c.(1630-1632)cGg>cAg	p.R544Q	NWD1_uc002net.4_Missense_Mutation_p.R409Q|NWD1_uc002nev.4_Missense_Mutation_p.R338Q|NWD1_uc021uqg.1_Missense_Mutation_p.R409Q	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	544	NACHT.						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						GAGGAAGCCCGGAAATGGGCC	0.662000														43			18		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13762864	13762864	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13762864G>A	uc003jfd.2	-	59	10290	c.10248C>T	c.(10246-10248)ttC>ttT	p.F3416F	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3416	Stalk (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)					TTATAGAAAAGAAGGAAGCCA	0.478000									Kartagener syndrome					70			24		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87967765	87967765	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:87967765C>T	uc003plm.4	+	7	4459	c.4418C>T	c.(4417-4419)tCt>tTt	p.S1473F		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TTTCCTCGATCTGGTGTGACT	0.403000														34			7		0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52918892	52918892	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52918892C>T	uc002pzh.3	+	6	1213	c.787C>T	c.(787-789)Cat>Tat	p.H263Y	ZNF528_uc002pzi.3_Missense_Mutation_p.H30Y	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCAAAGAATTCATACTGGAGA	0.398000														101			33		0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102667464	102667464	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102667464G>A	uc001phi.2	-	3	699	c.556C>T	c.(556-558)Caa>Taa	p.Q186*	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Nonsense_Mutation_p.Q120*	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	186	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GGGCCTGGTTGAAAAGCATGA	0.418000														67			29		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123311	12123311	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:12123311C>T	uc003nac.3	+	3	3462	c.3283C>T	c.(3283-3285)Ctt>Ttt	p.L1095F	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1095					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCATATTCACCTTGTTGCCAG	0.463000														50			10		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582444	136582444	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:136582444C>T	uc003qgx.1	-	11	2969	c.2716G>A	c.(2716-2718)Gaa>Aaa	p.E906K	BCLAF1_uc011edb.1_Missense_Mutation_p.E185K|BCLAF1_uc003qgy.1_Missense_Mutation_p.E855K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E904K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E733K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	906					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.E906D(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCATTATTTTCCATGGTCTCT	0.378000														197			26		0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116720701	116720701	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:116720701C>T	uc011ebg.2	+	1	444	c.345C>T	c.(343-345)gcC>gcT	p.A115A	DSE_uc011ebf.1_Silent_p.A96A|DSE_uc003pwq.1_Silent_p.A96A|DSE_uc003pws.3_Silent_p.A96A|DSE_uc003pwt.3_Silent_p.A96A	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	96					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ACTACAGTGCCCGCTGGAATG	0.547000														19			20		0	0	1	0	0
SNPH	9751	broad.mit.edu	37	20	1276964	1276964	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:1276964C>T	uc002wet.3	+	3	762	c.81C>T	c.(79-81)tcC>tcT	p.S27S	SNPH_uc002wes.3_Intron	NM_014723	NP_055538	O15079	SNPH_HUMAN	Homo sapiens syntaphilin (SNPH), mRNA.	0					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						GCCCTCTCTCCTCAGCCCCCG	0.677000														25			4		0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11285177	11285177	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11285177G>A	uc002mqm.3	-	6	2143	c.2064C>T	c.(2062-2064)ttC>ttT	p.F688F	KANK2_uc021upe.1_Silent_p.F680F|KANK2_uc002mqo.4_Silent_p.F680F|KANK2_uc002mqp.1_Silent_p.F489F	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	680										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCACCACGGGGAAGTTGGCAT	0.642000														19			4		0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133883997	133883997	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:133883997A>T	uc003vrm.1	+	13	1587	c.1571A>T	c.(1570-1572)tAt>tTt	p.Y524F		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	524	Guanylate kinase-like.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AAATATTCCTATTTTGAGCCT	0.353000														127			17		0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107979432	107979432	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:107979432G>A	uc004eoc.2	-	0	176	c.143C>T	c.(142-144)tCg>tTg	p.S48L		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	48						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CGGACAAGACGACCCGGTCCC	0.657000														18			15		0	0	1	0	0
PITX3	5309	broad.mit.edu	37	10	103990562	103990562	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:103990562C>T	uc001kuu.1	-	3	772	c.618G>A	c.(616-618)ccG>ccA	p.P206P		NM_005029	NP_005020	O75364	PITX3_HUMAN	Homo sapiens paired-like homeodomain 3 (PITX3), mRNA.	206					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCACGGTGCCCGGGGCAGCCG	0.761000														3			4		0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7875820	7875820	+	Missense_Mutation	SNP	G	A	A	rs139675589		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:7875820G>A	uc002wmw.1	-	4	797	c.773C>T	c.(772-774)tCg>tTg	p.S258L	HAO1_uc010gbu.3_Missense_Mutation_p.S258L	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	258	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCCATGATTCGACACCAAGAT	0.483000														71			33		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351347	40351347	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:40351347G>A	uc003gva.1	+	3	830	c.814G>A	c.(814-816)Gga>Aga	p.G272R		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	272					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GGTCTCCCTGGGAGTGACCAT	0.502000														220			79		0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413453	72413453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:72413453C>T	uc003twk.2	+	10	2921	c.2921C>T	c.(2920-2922)gCc>gTc	p.A974V	POM121_uc003twj.3_Missense_Mutation_p.A709V|POM121_uc010lam.1_Missense_Mutation_p.A709V	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	974	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCATTTGGGGCCGCTGAGGGG	0.652000														53			17		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110441668	110441668	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110441668C>T	uc003yne.3	+	25	3204	c.3100C>T	c.(3100-3102)Cgt>Tgt	p.R1034C		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1034					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			AGACCTACTTCGTACACCCAG	0.343000										HNSCC(38;0.096)				15			5		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929478	121929478	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:121929478G>A	uc004bkc.2	-	7	2626	c.2170C>T	c.(2170-2172)Ctg>Ttg	p.L724L		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	724					cell cycle arrest|cell death	cytoplasm	protein binding			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						CGGTGTTTCAGCATACAGGAG	0.552000														114			61		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420762	55420762	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55420762C>T	uc001sgp.4	+	1	917	c.539C>T	c.(538-540)tCt>tTt	p.S180F	NEUROD4_uc021qyr.1_Missense_Mutation_p.S180F	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	180					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GGCCCTCAGTCTGTCCTCCTG	0.537000														68			26		0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3005791	3005791	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3005791G>A	uc010dth.3	-	15	1942	c.1679C>T	c.(1678-1680)gCc>gTc	p.A560V	TLE2_uc010xhb.2_Missense_Mutation_p.A226V|TLE2_uc002lww.3_Missense_Mutation_p.A559V|TLE2_uc010xhc.2_Missense_Mutation_p.A437V|TLE2_uc010dti.3_Missense_Mutation_p.A573V	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	559					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GCAAACCTTGGCGTCGGGGCT	0.637000														59			7		0	0	1	0	0
PPAP2C	8612	broad.mit.edu	37	19	282190	282190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:282190G>A	uc002loh.3	-	4	827	c.724C>T	c.(724-726)Cac>Tac	p.H242Y	PPAP2C_uc002loi.3_Missense_Mutation_p.H221Y|PPAP2C_uc002loj.3_Missense_Mutation_p.H165Y	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	221					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TCGCTCCAGTGGTGTTTGTAA	0.587000														33			18		0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55815081	55815081	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55815081G>A	uc002qkf.3	+	13	1348	c.1221G>A	c.(1219-1221)ggG>ggA	p.G407G	BRSK1_uc002qkg.3_Silent_p.G391G|BRSK1_uc002qkh.3_Silent_p.G86G|Mir_324_uc021vbt.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	391					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.D407N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCCGTCACGGGAAGCGGCGAC	0.622000														102			30		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101755566	101755566	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:101755566G>A	uc003knn.3	-	7	1608	c.1436C>T	c.(1435-1437)cCa>cTa	p.P479L	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Missense_Mutation_p.P479L|SLCO6A1_uc003knq.3_Missense_Mutation_p.P417L	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	479						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAATTGCACTGGATTACAGCG	0.323000														130			49		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228550	21228550	+	Silent	SNP	G	A	A	rs75165693		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21228550G>A	uc002red.3	-	25	11318	c.11190C>T	c.(11188-11190)ttC>ttT	p.F3730F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3730					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGGAATAATGAATTTATCAG	0.408000														157			54		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57415241	57415241	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:57415241C>T	uc001cyp.3	-	5	918	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	C8B_uc010oon.2_Missense_Mutation_p.R222Q|C8B_uc010ooo.2_Missense_Mutation_p.R232Q	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	284	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ATGAGAGAATCGTTTGGTTCT	0.353000														40			29		0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45410266	45410266	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:45410266G>A	uc001rok.1	-	3	995	c.823C>T	c.(823-825)Cca>Tca	p.P275S		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	275						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GAAGGACATGGAGAAGGGAAA	0.493000														104			46		0	0	1	0	0
CLDN1	9076	broad.mit.edu	37	3	190039813	190039813	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:190039813C>T	uc003fsh.3	-	0	423	c.183G>A	c.(181-183)caG>caA	p.Q61Q		NM_021101	NP_066924	O95832	CLD1_HUMAN	Homo sapiens claudin 1 (CLDN1), mRNA.	61					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		TGCACTGGATCTGCCCGGTGC	0.622000														89			6		0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70991276	70991276	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:70991276A>G	uc021rvs.1	-	0	349	c.349T>C	c.(349-351)Ttt>Ctt	p.F117L	ADAM20_uc001xme.3_Missense_Mutation_p.F117L	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	67					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGTCCCCCAAACCGCAGGCTA	0.522000														77			29		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30724930	30724930	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30724930C>T	uc002dze.1	+	15	2776	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	SRCAP_uc021tgn.1_Silent_p.F797F|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.F654F	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	797					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)			CCCATGTCTTCCAGTCTCATC	0.517000														148			41		0	0	1	0	0
NPM2	10361	broad.mit.edu	37	8	21891760	21891760	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:21891760C>T	uc003xac.3	+	6	1135	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	NPM2_uc003xad.3_Missense_Mutation_p.P169S|NPM2_uc003xae.3_Missense_Mutation_p.P169S|NPM2_uc003xaf.3_Intron	NM_182795	NP_877724	Q86SE8	NPM2_HUMAN	Homo sapiens nucleophosmin/nucleoplasmin 2 (NPM2), mRNA.	169					chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		AAGGCTGGTGCCCCAGAAGCA	0.562000														42			22		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141051219	141051219	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:141051219C>T	uc003llm.3	-	11	1850	c.1772G>A	c.(1771-1773)gGa>gAa	p.G591E	ARAP3_uc011dbe.2_Missense_Mutation_p.G253E|ARAP3_uc003lln.3_Missense_Mutation_p.G513E	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	591	Arf-GAP.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GATGAACTCTCCCCGGGGGCC	0.592000														48			14		0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64141826	64141826	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:64141826C>T	uc004dvu.3	-	1	252	c.96G>A	c.(94-96)aaG>aaA	p.K32K	ZC4H2_uc004dvv.3_Silent_p.K9K|ZC4H2_uc022byd.1_Silent_p.K9K|ZC4H2_uc022byc.1_Silent_p.K9K|ZC4H2_uc011mow.2_Silent_p.K32K|ZC4H2_uc011mov.2_Silent_p.K9K|ZC4H2_uc004dvw.2_Silent_p.K32K	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	32							metal ion binding|protein binding	p.K32N(3)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAAACTCAGCCTTCAAACGAG	0.483000														10			21		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171482205	171482205	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171482205C>T	uc010pmg.2	+	2	444	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F	PRRC2C_uc001ghq.1_Missense_Mutation_p.L62F|PRRC2C_uc001ghr.1_Missense_Mutation_p.L62F	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	60							protein C-terminus binding										ACCTGCTAACCTCCCAAGTCT	0.418000														49			12		0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46563104	46563104	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:46563104G>A	uc010tfw.1	-	7	1079	c.1073C>T	c.(1072-1074)tCt>tTt	p.S358F	ZC3H13_uc001vas.1_Missense_Mutation_p.S358F|ZC3H13_uc001vat.1_Missense_Mutation_p.S358F	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	358	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CCGCTGATAAGATGGTGAAGG	0.448000														37			13		0	0	1	0	0
TNNI3	7137	broad.mit.edu	37	19	55666111	55666111	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55666111C>T	uc002qjg.4	-	5	370	c.370G>A	c.(370-372)Gag>Aag	p.E124K	TNNI3_uc010yft.2_Non-coding_Transcript	NM_000363	NP_000354	P19429	TNNI3_HUMAN	Homo sapiens troponin I type 3 (cardiac) (TNNI3), mRNA.	124					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CGTCCCACCTCCGTGATGTTC	0.582000														18			5		0	0	1	0	0
NUBP1	4682	broad.mit.edu	37	16	10850585	10850585	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:10850585C>T	uc002daa.1	+	5	422	c.399C>T	c.(397-399)ttC>ttT	p.F133F	NUBP1_uc010bum.1_Intron|NUBP1_uc002dab.1_Silent_p.F122F	NM_002484	NP_002475	P53384	NUBP1_HUMAN	Homo sapiens nucleotide binding protein 1 (NUBP1), mRNA.	133					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						CAGTGGGCTTCCTGCTCAGCA	0.527000														61			6		0	0	1	0	0
FRRS1L	23732	broad.mit.edu	37	9	111903821	111903821	+	Missense_Mutation	SNP	G	A	A	rs143745415		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:111903821G>A	uc004bdw.1	-	3	664	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C		NM_014334	NP_055149	Q9P0K9	CI004_HUMAN	Homo sapiens chromosome 9 open reading frame 4 (C9orf4), mRNA.	222	DOMON.					integral to membrane											TGCTGTATGCGGACCCTGCCA	0.448000														60			48		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36241637	36241637	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:36241637G>A	uc021rid.1	+	55	9062	c.8528G>A	c.(8527-8529)cGa>cAa	p.R2843Q	NBEA_uc021ric.1_Missense_Mutation_p.R2840Q|NBEA_uc010abi.3_Missense_Mutation_p.R1501Q|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.R636Q|NBEA_uc001uvd.3_Missense_Mutation_p.R421Q	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2843						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.E2842E(1)		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)		TACTATGAACGAGGGCGATTC	0.433000														159			58		0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29856018	29856019	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:29856018_29856019CC>TT	uc002dui.3	+	10	1991_1992	c.1839_1840CC>TT	c.(1837-1842)ggcccc>ggTTcc	p.P614S	BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.P614S|MVP_uc010vea.2_Missense_Mutation_p.P208S	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	614					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AAGCGAAGGGCCCCGATGGCAT	0.624000														122			52		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19483433	19483433	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19483433G>A	uc002dgc.4	+	10	2555	c.1806G>A	c.(1804-1806)caG>caA	p.Q602Q	TMC5_uc010vaq.2_Intron|TMC5_uc002dgb.4_Silent_p.Q602Q|TMC5_uc010var.2_Silent_p.Q602Q|TMC5_uc002dgd.1_Silent_p.Q356Q|TMC5_uc002dge.4_Silent_p.Q356Q|TMC5_uc002dgf.4_Silent_p.Q285Q|TMC5_uc002dgg.4_Silent_p.Q243Q	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	602						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						AGCTCCGTCAGGAGAATTCCA	0.527000														110			24		0	0	1	0	0
SBK2	646643	broad.mit.edu	37	19	56042656	56042656	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56042656G>A	uc010ygc.2	-	2	325	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	104	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						AACTCGTACAGGAAGCCACGG	0.652000														14			6		0	0	1	0	0
UBE2U	148581	broad.mit.edu	37	1	64707407	64707407	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:64707407G>A	uc001dbn.1	+	7	912	c.668G>A	c.(667-669)tGg>tAg	p.W223*		NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2U (putative) (UBE2U), mRNA.	223							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						CAGAAAGAATGGAATTTAAAG	0.299000														43			11		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65241864	65241864	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:65241864G>A	uc001xht.3	-	21	4872	c.4821C>T	c.(4819-4821)gtC>gtT	p.V1607V	SPTB_uc001xhr.3_Silent_p.V1607V|SPTB_uc001xhs.3_Silent_p.V1607V|SPTB_uc001xhu.3_Silent_p.V1607V|SPTB_uc010aqi.3_Silent_p.V268V	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1607					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CATCGGAGATGACGTAGAGCT	0.622000														136			15		0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254404	30254404	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:30254404C>T	uc022bug.1	+	0	363	c.363C>T	c.(361-363)ttC>ttT	p.F121F	MAGEB3_uc004dca.2_Silent_p.F121F	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	121	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TGGTGCAGTTCCTGATGGAAA	0.393000														19			20		0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43626727	43626727	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:43626727T>A	uc011lrb.2	-	3	1989	c.1960A>T	c.(1960-1962)Aag>Tag	p.K654*		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	654						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						AACTTCACCTTCTGTGCCTCC	0.567000														50			47		0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1246138	1246138	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1246138C>T	uc003jby.2	+	11	1955	c.1832C>T	c.(1831-1833)cCg>cTg	p.P611L		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	611					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GACATGCGCCCGGACACGGAC	0.746000														8			4		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175304863	175304863	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175304863C>T	uc001gkp.1	-	17	3696	c.3615G>A	c.(3613-3615)gaG>gaA	p.E1205E	TNR_uc009wwu.1_Silent_p.E1205E	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1205	Fibrinogen C-terminal.				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)					AGAACTCATCCTCCACGTTCC	0.443000														121			10		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142605896	142605896	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142605896A>C	uc003wby.1	-	14	2238	c.1974T>G	c.(1972-1974)gaT>gaG	p.D658E		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	658					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.D658N(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCTCCTGGTCATCCTCCTTGT	0.537000														59			13		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034646	16034646	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:16034646G>A	uc002nbu.2	-	6	930	c.894C>T	c.(892-894)ttC>ttT	p.F298F	CYP4F11_uc010eab.1_Silent_p.F298F|CYP4F11_uc002nbt.2_Silent_p.F298F	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	298					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCACATCAATGAAGTCTAAAG	0.463000														167			50		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4834515	4834515	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:4834515C>T	uc001alm.1	+	4	1573	c.1192C>T	c.(1192-1194)Cct>Tct	p.P398S	AJAP1_uc001aln.3_Missense_Mutation_p.P398S	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	398	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GCATCTTATTCCTGTGGCCTT	0.532000														117			12		0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4168353	4168353	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4168353G>A	uc002lzl.3	+	5	836	c.720G>A	c.(718-720)gaG>gaA	p.E240E	CREB3L3_uc002lzm.3_Silent_p.E230E|CREB3L3_uc010xib.2_Silent_p.E229E|CREB3L3_uc010xic.2_Intron	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	240					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E240K(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAGTACGAGGAGCGAGTGC	0.542000														48			8		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4872438	4872438	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:4872438G>A	uc001qne.1	+	7	1471	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	460						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ATAGATTTTGGAGACGTTTCT	0.398000														79			12		0	0	1	0	0
RTN4RL2	349667	broad.mit.edu	37	11	57235131	57235131	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57235131G>A	uc010rjt.2	+	1	81	c.81G>A	c.(79-81)gcG>gcA	p.A27A		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	Homo sapiens reticulon 4 receptor-like 2 (RTN4RL2), mRNA.	27					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TGCCCCTGGCGGCCCCCAGCT	0.677000														101			26		0	0	1	0	0
OR7C1	26664	broad.mit.edu	37	19	14910058	14910058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:14910058C>T	uc010xnz.2	-	0	891	c.891G>A	c.(889-891)atG>atA	p.M297I		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	297					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						GGGCCCTCTTCATGTCCGTGT	0.522000														96			43		0	0	1	0	0
CCDC164	92749	broad.mit.edu	37	2	26673526	26673526	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:26673526C>T	uc002rhg.2	+	12	1740	c.1666C>T	c.(1666-1668)Cac>Tac	p.H556Y		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	556										cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						ATATCGAGCTCACCGTTTATC	0.383000														111			27		0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52699483	52699483	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52699483G>A	uc010snq.2	+	6	1070	c.937G>A	c.(937-939)Gag>Aag	p.E313K	KRT86_uc009zmg.3_Missense_Mutation_p.E313K|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.E313K	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	313	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.G312W(1)		breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGGCACGGGGAGACCCTGCG	0.597000														81			7		0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119003883	119003883	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:119003883C>T	uc001pvp.3	+	9	1337	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C	HINFP_uc021qrj.1_Missense_Mutation_p.R365C|HINFP_uc001pvq.3_Missense_Mutation_p.R365C|HINFP_uc001pvr.3_Missense_Mutation_p.R118C	NM_015517	NP_945322	Q9BQA5	HINFP_HUMAN	Homo sapiens histone H4 transcription factor (HINFP), transcript variant 1, mRNA.	365					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CGTGCACCTTCGCAAGAAGCA	0.502000														139			42		0	0	1	0	0
PIP	5304	broad.mit.edu	37	7	142836667	142836667	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142836667G>A	uc003wcf.1	+	3	409	c.373G>A	c.(373-375)Gat>Aat	p.D125N		NM_002652	NP_002643	P12273	PIP_HUMAN	Homo sapiens prolactin-induced protein (PIP), mRNA.	125						extracellular region	actin binding	p.P124T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CATCTGCCCTGATGATGCTGC	0.473000														164			59		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73844510	73844510	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:73844510G>A	uc001ouu.2	-	5	1275	c.1048C>T	c.(1048-1050)Cat>Tat	p.H350Y	C2CD3_uc001ouv.2_Missense_Mutation_p.H350Y	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	350						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATAGGAGGATGAACTTGGTCC	0.393000														56			14		0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90433383	90433383	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:90433383C>T	uc001kfg.2	+	6	822	c.708C>T	c.(706-708)ttC>ttT	p.F236F	LIPF_uc001kfh.2_Silent_p.F213F|LIPF_uc010qmt.2_Silent_p.F246F|LIPF_uc010qmu.2_Silent_p.F203F	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	236					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CACACAACTTCTTTGATCAAT	0.368000														154			83		0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78421875	78421875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:78421875C>T	uc003kfu.4	+	5	737	c.632C>T	c.(631-633)tCc>tTc	p.S211F	BHMT_uc011cti.2_Missense_Mutation_p.S58F	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	211	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.S211Y(2)		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)	ACAGGAGCATCCATCATTGGT	0.493000														80			21		0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115815860	115815860	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:115815860G>A	uc003krx.4	-	11	1917	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L	SEMA6A_uc010jck.3_Missense_Mutation_p.P403L|SEMA6A_uc003krw.4_5'Flank|SEMA6A_uc010jcj.3_Missense_Mutation_p.P6L	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	403	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GAAGATGGAGGGCACTGCCTC	0.498000														79			38		0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14989431	14989431	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:14989431G>A	uc002dcv.3	+	30	3664	c.3598G>A	c.(3598-3600)Gca>Aca	p.A1200T		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	1200						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GCTCGGCCAGGCAGCCTCTGA	0.537000														627			64		0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170222320	170222320	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:170222320G>A	uc003mau.3	+	4	547	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	GABRP_uc011dev.2_Missense_Mutation_p.V117M	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	117						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.V117V(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTTCCTCTGGGTGCCAGATAC	0.552000														130			55		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93964487	93964487	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:93964487C>T	uc003poe.3	-	13	2651	c.2410G>A	c.(2410-2412)Gca>Aca	p.A804T	EPHA7_uc003pof.3_Missense_Mutation_p.A799T|EPHA7_uc011eac.2_Missense_Mutation_p.A800T	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	804	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCTTCGGGTGCTGTCCACCTT	0.353000														23			13		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87718078	87718078	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:87718078G>A	uc003hpz.3	+	40	6877	c.6397G>A	c.(6397-6399)Gaa>Aaa	p.E2133K	PTPN13_uc003hpy.3_Missense_Mutation_p.E2138K|PTPN13_uc003hqa.3_Missense_Mutation_p.E2114K|PTPN13_uc003hqb.3_Missense_Mutation_p.E1942K|PTPN13_uc003hqc.1_Missense_Mutation_p.E499K	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2133						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGTAAAAAGTGAAAGGTGAGA	0.284000														7			5		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45860744	45860744	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45860744C>T	uc010gpt.1	+	31	4592	c.4492C>T	c.(4492-4494)Cac>Tac	p.H1498Y	TRPM2_uc002zet.1_Missense_Mutation_p.H1448Y|TRPM2_uc002zeu.1_Missense_Mutation_p.H1448Y|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.H1448Y|TRPM2_uc002zex.1_Missense_Mutation_p.H1234Y|TRPM2_uc002zey.1_Missense_Mutation_p.H927Y|TRPM2_uc011aff.1_Missense_Mutation_p.H129Y	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1448	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGTCAGCGTCCACTTCCAGGA	0.622000														95			46		0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795591	142795591	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:142795591C>T	uc004fbz.3	-	1	841	c.87G>A	c.(85-87)gaG>gaA	p.E29E		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	29								p.Q28H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTCGGTGCCTCCTGCATCT	0.418000														21			20		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20328687	20328687	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20328687G>A	uc002dgv.3	-	8	1356	c.1273C>T	c.(1273-1275)Caa>Taa	p.Q425*	GP2_uc002dgw.3_Nonsense_Mutation_p.Q422*|GP2_uc002dgx.3_Nonsense_Mutation_p.Q278*|GP2_uc002dgy.3_Nonsense_Mutation_p.Q275*	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	425	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAATCACGTTGATTTGAGCAG	0.478000														68			14		0	0	1	0	0
AP1M2	10053	broad.mit.edu	37	19	10685646	10685646	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10685646C>T	uc002mpd.3	-	9	1197	c.1113G>A	c.(1111-1113)gaG>gaA	p.E371E	AP1M2_uc002mpc.3_Silent_p.E369E	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 2 subunit (AP1M2), mRNA.	369	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GGCCCTCCACCTCTTCCTTTT	0.617000														16			4		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003771	122003771	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122003771G>A	uc003eew.4	+	6	3438	c.3000G>A	c.(2998-3000)agG>agA	p.R1000R	CASR_uc003eev.4_Silent_p.R990R	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	990					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)	TGGCCCACAGGAATTCTACGC	0.577000														43			15		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46086047	46086047	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:46086047C>T	uc003gxb.3	-	2	429	c.277G>A	c.(277-279)Gat>Aat	p.D93N		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	93					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ACATAAACATCAGTTTCAATT	0.299000														13			9		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331897	70331897	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70331897C>T	uc001oqc.3	-	20	4415	c.4303G>A	c.(4303-4305)Gac>Aac	p.D1435N	SHANK2_uc010rqn.2_Missense_Mutation_p.D911N|SHANK2_uc001opz.3_Missense_Mutation_p.D906N|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1122	SAM.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGTGGTGGTCGCTGCTACTC	0.582000														24			37		0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12460892	12460892	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12460892G>A	uc002mtr.1	-	5	2118	c.1507C>T	c.(1507-1509)Ctt>Ttt	p.L503F	ZNF442_uc010xmk.1_Missense_Mutation_p.L434F	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TGTTGAGAAAGGTATGTGAAA	0.353000														140			36		0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999795	112999796	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:112999795_112999796CC>TT	uc001ebx.3	+	5	1909_1910	c.1681_1682CC>TT	c.(1681-1683)ccc>TTc	p.P561F	CTTNBP2NL_uc001ebz.3_Non-coding_Transcript	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	561						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCCCTGAGCCCCCTGTCTCCA	0.554000														89			29		0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60562913	60562913	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:60562913A>T	uc001jki.1	+	14	2092	c.2092A>T	c.(2092-2094)Agt>Tgt	p.S698C	BICC1_uc001jkj.1_Missense_Mutation_p.S339C	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	698					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GGCTCCAGGGAGTGAGCGCGC	0.532000														61			11		0	0	1	0	0
GTPBP3	84705	broad.mit.edu	37	19	17448979	17448979	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17448979C>T	uc002ngg.4	+	1	311	c.216C>T	c.(214-216)ccC>ccT	p.P72P	GTPBP3_uc010xpo.2_Silent_p.P94P|GTPBP3_uc010eaq.1_Non-coding_Transcript|GTPBP3_uc010ear.2_Non-coding_Transcript|GTPBP3_uc010eas.3_Silent_p.P72P|GTPBP3_uc002ngh.4_Silent_p.P72P	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	72					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GAGACCTGCCCCTTGCTCGCC	0.711000														16			4		0	0	1	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72958208	72958208	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72958208G>A	uc010uks.1	+	15	1823	c.1782G>A	c.(1780-1782)caG>caA	p.Q594Q	DQ582073_uc002aux.1_5'Flank|DQ577530_uc002auy.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	594										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GGCTGGCCCAGAAGGAGGAGG	0.627000														272			45		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501062	90501062	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90501062G>A	uc004app.4	+	3	1695	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	FAM75E1_uc004apo.1_Missense_Mutation_p.E366K	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	554						integral to membrane		p.E554K(1)									TACATCCCAGGAGAGGACACA	0.562000														127			52		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52603813	52603813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:52603813C>T	uc001jjj.3	-	3	357	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	A1CF_uc010qho.2_Missense_Mutation_p.E65K|A1CF_uc010qhn.2_Missense_Mutation_p.E65K|A1CF_uc009xov.3_Missense_Mutation_p.E57K|A1CF_uc001jji.3_Missense_Mutation_p.E57K|A1CF_uc001jjh.3_Missense_Mutation_p.E65K|A1CF_uc001jjk.1_Missense_Mutation_p.E57K	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	57	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ATAAAAATTTCACAGCCCCTT	0.428000														115			30		0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170118	58170118	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58170118G>A	uc010rkf.2	-	0	765	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTAAGTACATGAAGATAATAG	0.463000														81			18		0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69143776	69143776	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:69143776G>A	uc010cfh.3	+	1	702	c.478G>A	c.(478-480)Gag>Aag	p.E160K	HAS3_uc002ewk.3_Missense_Mutation_p.E160K|HAS3_uc010vlk.1_Missense_Mutation_p.E160K|HAS3_uc002ewl.3_Missense_Mutation_p.E160K	NM_001199280	NP_001186209	O00219	HAS3_HUMAN	Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA.	160					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGAGGCAGGCGAGGGTGAGAC	0.647000														60			13		0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602589	5602589	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5602589G>A	uc010qzi.2	+	0	483	c.483G>A	c.(481-483)ggG>ggA	p.G161G	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTCATTGGGAAGATCGTCA	0.512000														203			72		0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1222349	1222349	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1222349C>T	uc001adt.1	+	7	1339	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	SCNN1D_uc001adu.1_Silent_p.F207F|SCNN1D_uc001adw.2_Silent_p.F273F|SCNN1D_uc001adv.2_Silent_p.F207F|SCNN1D_uc001adx.2_5'UTR	NM_001130413	NP_001123885			Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GAGTGGGGTTCAGACTGGTGA	0.706000														36			16		0	0	1	0	0
FCER1G	2207	broad.mit.edu	37	1	161188701	161188701	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161188701G>A	uc001fza.1	+	4	257	c.232G>A	c.(232-234)Gag>Aag	p.E78K	FCER1G_uc001fyz.1_Missense_Mutation_p.E77K	NM_004106	NP_004097	P30273	FCERG_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide (FCER1G), mRNA.	77	ITAM.				platelet activation	integral to plasma membrane				endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	GGAGACTTACGAGACTCTGAA	0.542000														82			26		0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224475603	224475603	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:224475603G>A	uc001hok.3	-	13	1730	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F	NVL_uc001hol.3_Silent_p.F450F|NVL_uc010pvd.2_Silent_p.F465F|NVL_uc010pve.2_Silent_p.F367F|NVL_uc010pvf.2_Non-coding_Transcript	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	556						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	p.F556L(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		GAGCAACAATGAAATCATTCA	0.478000														56			25		0	0	1	0	0
UBE2E2	7325	broad.mit.edu	37	3	23250314	23250314	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:23250314G>A	uc003ccg.2	+	1	304	c.124G>A	c.(124-126)Gag>Aag	p.E42K	UBE2E2_uc010hfc.2_Non-coding_Transcript	NM_152653	NP_689866	Q96LR5	UB2E2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2E 2 (UBE2E2), mRNA.	42					ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						CAAGAAAAAGGAGGGAAAAAT	0.388000														50			16		0	0	1	0	0
ZNF174	7727	broad.mit.edu	37	16	3454615	3454615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3454615C>T	uc002cvc.3	+	1	1407	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	ZNF174_uc002cva.2_Missense_Mutation_p.L198F|ZNF174_uc002cvb.3_Missense_Mutation_p.L198F	NM_003450	NP_003441	Q15697	ZN174_HUMAN	Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.	198					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						ATCCCCACTCCTCCAAGAACC	0.532000														95			23		0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77515942	77515942	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:77515942G>A	uc001dhi.3	+	4	847	c.672_splice	c.e4-1	p.R224_splice	ST6GALNAC5_uc010ori.2_Splice_Site_p.E88_splice|ST6GALNAC5_uc009wbw.3_Intron	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	224					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GTTCCTTCCAGGAAGATATCC	0.423000														175			11		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140731945	140731945	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140731945G>A	uc003ljo.2	+	0	2118	c.2118G>A	c.(2116-2118)gcG>gcA	p.A706A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljq.2_5'Flank|PCDHGC5_uc011daq.2_Silent_p.A706A|PCDHGC5_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	712					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)			TGATTCTAGCGATCGCCCTGC	0.612000														179			63		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87180118	87180118	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:87180118C>T	uc003uiz.2	-	10	1529	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R	ABCB1_uc011khc.2_Missense_Mutation_p.G282R	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	346	ABC transmembrane type-1 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)	GATGCCTGTCCAACACTAAAA	0.368000														58			31		0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52822170	52822170	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52822170C>T	uc001saj.2	-	6	1274	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	418	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGCAGGGCCTCCTCAAGGTCC	0.597000														41			8		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370307	86370307	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:86370307G>A	uc001vll.1	-	1	796	c.337C>T	c.(337-339)Ctc>Ttc	p.L113F	SLITRK6_uc021rla.1_Missense_Mutation_p.L113F	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	113						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGTTTCAGGAGGCCAAGGCCA	0.363000														89			50		0	0	1	0	0
SENP8	123228	broad.mit.edu	37	15	72432138	72432138	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72432138C>T	uc021spq.1	+	1	507	c.174C>T	c.(172-174)gtC>gtT	p.V58V	SENP8_uc021spr.1_Silent_p.V58V|SENP8_uc021sps.1_Silent_p.V58V|SENP8_uc021spt.1_Silent_p.V58V|SENP8_uc002atp.3_Silent_p.V58V|SENP8_uc021spu.1_Silent_p.V58V	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN	Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.	58	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						GCCCTGAAGTCACCCAGTTCA	0.463000														129			96		0	0	1	0	0
CARS	833	broad.mit.edu	37	11	3040465	3040465	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:3040465G>A	uc001lxf.3	-	11	1383	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A	CARS_uc010qxo.2_Silent_p.A433A|CARS_uc001lxe.3_Silent_p.A340A|CARS_uc001lxg.3_Silent_p.A350A|CARS_uc001lxh.3_Silent_p.A350A|CARS_uc010qxp.2_Silent_p.A363A	NM_001014437	NP_001014437	P49589	SYCC_HUMAN	Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA.	350					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TGCCTGCCATGGCCGAGCACT	0.597000			T	ALK	ALCL									128			34		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642485	57642485	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57642485G>A	uc002qny.3	+	3	2798	c.2442G>A	c.(2440-2442)gtG>gtA	p.V814V	USP29_uc021vci.1_Silent_p.V814V	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	814					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			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)		CAAGAAACGTGAAGATGGGGG	0.478000														29			16		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815352	23815352	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:23815352C>T	uc003gqs.3	-	7	1874	c.1754G>A	c.(1753-1755)aGg>aAg	p.R585K	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	585	Arg/Ser-rich.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGATCTTGACCTGGAATATGG	0.428000														51			13		0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242383335	242383335	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:242383335G>A	uc001hzn.2	-	5	917	c.690C>T	c.(688-690)caC>caT	p.H230H	PLD5_uc021pll.1_Silent_p.H138H|PLD5_uc001hzl.4_Silent_p.H168H|PLD5_uc001hzm.4_Silent_p.H22H|PLD5_uc001hzo.2_Silent_p.H138H	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	230	PLD phosphodiesterase 1.					integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CGATATACACGTGCTGTTTGT	0.527000														49			16		0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770916	53770916	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53770916C>T	uc010ydu.2	-	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	1					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		ACCGGGAGGCCATTCTGCCAC	0.507000										HNSCC(26;0.072)				54			20		0	0	1	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94335415	94335415	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94335415G>A	uc001dqf.3	-	6	2321	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	DNTTIP2_uc010otm.2_Non-coding_Transcript	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 2 (DNTTIP2), mRNA.	755					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TCTTAATTGCGAAATTTCTTC	0.323000														34			14		0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60499180	60499180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:60499180G>A	uc001czs.2	-	6	1105	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	333							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGAACGAGCGATCTTCTTTT	0.433000														112			28		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50249785	50249785	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50249785C>T	uc002ppm.3	-	5	945	c.934G>A	c.(934-936)Ggc>Agc	p.G312S		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	312							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		ACGTAGGGGCCCTCGCCAGCC	0.701000														62			17		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849514	73849514	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:73849514G>A	uc003xzb.3	+	2	2512	c.1924G>A	c.(1924-1926)Gag>Aag	p.E642K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	642					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)			AGGGACAGAAGAGCACCAAAG	0.592000														101			37		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32109934	32109934	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:32109934G>A	uc003tcm.2	-	0	533	c.72C>T	c.(70-72)atC>atT	p.I24I	PDE1C_uc003tcn.1_Silent_p.I24I|PDE1C_uc003tco.2_Intron|PDE1C_uc003tcr.3_Silent_p.I24I|PDE1C_uc003tcs.3_Silent_p.I24I	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	24					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGATTTTCTCGATCTGTTCCG	0.512000														135			18		0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18320445	18320445	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:18320445G>A	uc001mod.1	-	9	1336	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	HPS5_uc001moe.1_Missense_Mutation_p.S239F|HPS5_uc001mof.1_Missense_Mutation_p.S239F	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	353						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGATATCAGGGAGAGATGTGA	0.458000									Hermansky-Pudlak syndrome					98			34		0	0	1	0	0
KBTBD5	131377	broad.mit.edu	37	3	42728211	42728211	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42728211C>T	uc003clv.1	+	0	1201	c.1101C>T	c.(1099-1101)ctC>ctT	p.L367L		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	367										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTGGAGGCCTCTTCTACAACG	0.582000														47			7		0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226822414	226822414	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:226822414G>A	uc010pvo.2	-	7	3139	c.2799C>T	c.(2797-2799)gtC>gtT	p.V933V		NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	933							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TCAGGATGTCGACGAGGTTAT	0.667000														26			14		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25470566	25470566	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:25470566G>A	uc002wux.1	-	11	1615	c.1541C>T	c.(1540-1542)tCg>tTg	p.S514L	NINL_uc010gdn.1_Missense_Mutation_p.S514L|NINL_uc010gdo.1_Missense_Mutation_p.S297L	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	514					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CAGCCTCTCCGAATCCGAAAG	0.577000														114			53		0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201438535	201438535	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:201438535C>T	uc002uvw.2	+	6	3579	c.3466C>T	c.(3466-3468)Cgt>Tgt	p.R1156C	SGOL2_uc010zhd.1_Missense_Mutation_p.R1156C|SGOL2_uc010zhe.1_Missense_Mutation_p.R1156C	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	1156					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGACAGTGTTCGTGAAGGTTT	0.363000														91			31		0	0	1	0	0
JHDM1D	80853	broad.mit.edu	37	7	139826473	139826473	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:139826473G>A	uc003vvm.3	-	5	856	c.852C>T	c.(850-852)gaC>gaT	p.D284D		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	284	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTCCACCGAAGTCAATGTGGA	0.398000														113			53		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61305062	61305062	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61305062G>A	uc002ljf.3	-	7	1150	c.1064C>T	c.(1063-1065)tCa>tTa	p.S355L	SERPINB3_uc002lje.3_Missense_Mutation_p.S334L|SERPINB3_uc002ljg.3_Missense_Mutation_p.S355L	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	355		Reactive bond.			regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGAAGGAGATGATAATTCGAC	0.448000														107			42		0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544456	53544456	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:53544456C>T	uc001cuv.3	+	7	1586	c.1418C>T	c.(1417-1419)gCc>gTc	p.A473V	PODN_uc010onr.2_Missense_Mutation_p.A454V|PODN_uc010ons.2_Missense_Mutation_p.A331V|PODN_uc001cuw.3_Missense_Mutation_p.A454V	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	425					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CACCGCGACGCCTTCCGCAAG	0.637000														81			38		0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17279774	17279774	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:17279774G>A	uc010hev.3	-	17	1733	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	TBC1D5_uc010heu.3_Missense_Mutation_p.S77F|TBC1D5_uc003cbf.3_Missense_Mutation_p.S490F|TBC1D5_uc003cbe.3_Missense_Mutation_p.S490F|TBC1D5_uc010hew.1_Missense_Mutation_p.S442F	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	490						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AACAGAGGAGGAGCTACTGCT	0.512000														55			14		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55912872	55912872	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:55912872G>A	uc010qhy.1	-	14	2182	c.1787C>T	c.(1786-1788)cCt>cTt	p.P596L	PCDH15_uc010qhq.2_Missense_Mutation_p.P596L|PCDH15_uc010qhr.2_Missense_Mutation_p.P591L|PCDH15_uc021pqv.1_Missense_Mutation_p.P591L|PCDH15_uc021pqw.1_Missense_Mutation_p.P603L|PCDH15_uc010qht.2_Missense_Mutation_p.P598L|PCDH15_uc021pqx.1_Missense_Mutation_p.P591L|PCDH15_uc001jjv.1_Missense_Mutation_p.P569L|PCDH15_uc021pqy.1_Missense_Mutation_p.P591L|PCDH15_uc021pqz.1_Missense_Mutation_p.P569L|PCDH15_uc010qhv.1_Missense_Mutation_p.P591L|PCDH15_uc010qhw.1_Missense_Mutation_p.P554L|PCDH15_uc010qhx.1_Missense_Mutation_p.P591L|PCDH15_uc010qhz.1_Missense_Mutation_p.P591L|PCDH15_uc010qia.1_Missense_Mutation_p.P569L|PCDH15_uc001jju.1_Missense_Mutation_p.P591L|PCDH15_uc010qib.1_Missense_Mutation_p.P569L|PCDH15_uc001jjw.3_Missense_Mutation_p.P591L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	591	Cadherin 5.				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)				TCGCTCTGCAGGAGGAGCATT	0.453000										HNSCC(58;0.16)				54			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167678	140167678	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140167678G>A	uc003lhb.2	+	0	1803	c.1803G>A	c.(1801-1803)tcG>tcA	p.S601S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.S601S	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	614	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)			ACGCCGACTCGGGCTACAACG	0.667000														94			45		0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845226	107845226	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:107845226G>A	uc003hyi.3	-	3	1370	c.665C>T	c.(664-666)tCt>tTt	p.S222F	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	222	DKK-type Cys-2.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space		p.S222F(2)|p.S222Y(2)|p.G221D(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CAGCCCATGAGAACCCTTCTT	0.502000														128			45		0	0	1	0	0
RCC2	55920	broad.mit.edu	37	1	17739641	17739641	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17739641G>A	uc001bal.3	-	8	1290	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	RCC2_uc001bam.3_Missense_Mutation_p.S414F	NM_001136204	NP_061185	Q9P258	RCC2_HUMAN	Homo sapiens regulator of chromosome condensation 2 (RCC2), transcript variant 2, mRNA.	414					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AGATTCACGGGAGGTGTTGGT	0.542000														28			10		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158490620	158490620	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:158490620C>T	uc003qqx.2	+	13	1961	c.1855C>T	c.(1855-1857)Cat>Tat	p.H619Y	SYNJ2_uc003qqw.2_Missense_Mutation_p.H619Y|SYNJ2_uc003qqy.2_Missense_Mutation_p.H382Y|SYNJ2_uc003qqz.2_Missense_Mutation_p.H236Y|SYNJ2_uc003qra.2_5'Flank	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	619							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTCACGCTCTCATAGATACAT	0.453000														27			26		0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7320910	7320910	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7320910C>T	uc002ggt.1	+	6	2373	c.2300C>T	c.(2299-2301)cCc>cTc	p.P767L	SPEM1_uc010vtw.1_5'Flank|SPEM1_uc002ggv.3_5'Flank	NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	767					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)				GCCTGCCCGCCCGACTACACC	0.746000														4			3		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54792418	54792418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54792418C>T	uc001sga.3	-	27	2974	c.2906G>A	c.(2905-2907)cGa>cAa	p.R969Q		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	969					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.R969Q(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGGCAGGATTCGGTAGGGCAT	0.577000														32			12		0	0	1	0	0
TNFSF18	8995	broad.mit.edu	37	1	173013100	173013100	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:173013100C>T	uc001giu.2	-	1	233	c.232G>A	c.(232-234)Gag>Aag	p.E78K		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.	78					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	p.C78C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						ATACAGGGCTCCTTAGCAGTC	0.353000														78			39		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2796226	2796226	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2796226C>T	uc022aqr.1	-	69	10966	c.10576G>A	c.(10576-10578)Gaa>Aaa	p.E3526K	CSMD1_uc011kwj.2_Missense_Mutation_p.E2841K|CSMD1_uc010lrg.3_Missense_Mutation_p.E1418K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3527						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGCTGTTTTCATGCCCAGCA	0.403000														14			3		0	0	1	0	0
MCU	90550	broad.mit.edu	37	10	74619011	74619011	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:74619011C>T	uc001jtc.3	+	2	318	c.297C>T	c.(295-297)ttC>ttT	p.F99F	MCU_uc009xqp.1_Non-coding_Transcript|MCU_uc009xqq.1_Non-coding_Transcript|MCU_uc010qjy.1_Non-coding_Transcript|MCU_uc009xqr.3_Silent_p.F99F|MCU_uc001jtd.3_Silent_p.F50F	NM_138357	NP_612366	Q8NE86	MCU_HUMAN	Homo sapiens mitochondrial calcium uniporter (MCU), nuclear gene encoding mitochondrial protein, mRNA.	99					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						GCTGTCAGTTCACACTCAAGC	0.438000														153			64		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157497642	157497642	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157497642G>A	uc009wsm.3	-	8	1883	c.1725C>T	c.(1723-1725)gcC>gcT	p.A575A	FCRL5_uc001fqu.3_Silent_p.A575A|FCRL5_uc010phv.1_Silent_p.A575A|FCRL5_uc010phw.1_Silent_p.A490A	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	575	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCACAGCCTGGGCCCTGGGAA	0.532000														106			33		0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160853249	160853249	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160853249C>T	uc001fxc.3	-	2	242	c.126G>A	c.(124-126)aaG>aaA	p.K42K		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	42	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTTTGATTTCCTTGCAGCTTC	0.443000														119			37		0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22051671	22051671	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:22051671C>T	uc003xbg.3	+	9	1547	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	BMP1_uc003xbf.3_Silent_p.F176F|BMP1_uc003xbb.3_Silent_p.F427F|BMP1_uc003xbc.3_Silent_p.F176F|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Silent_p.F176F|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	427	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GAAAGGGCTTCTTTGCAGTCT	0.592000														47			30		0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6731105	6731105	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6731105G>A	uc002mfp.3	-	16	1498	c.1452C>T	c.(1450-1452)tcC>tcT	p.S484S	GPR108_uc010duv.3_Silent_p.S35S	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	484						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						AGGCCAGGGTGGAGCCCTCCA	0.697000														31			13		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26465770	26465770	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:26465770C>T	uc001isn.2	+	30	4794	c.4434C>T	c.(4432-4434)ctC>ctT	p.L1478L	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1478					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCAGTGCCTCTCAGGTAAAA	0.388000														67			17		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181546989	181546989	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:181546989C>T	uc009wxt.3	+	3	795	c.600C>T	c.(598-600)ctC>ctT	p.L200L	CACNA1E_uc001gow.3_Silent_p.L200L|CACNA1E_uc009wxs.3_Silent_p.L200L|CACNA1E_uc009wxr.3_Silent_p.L107L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	200					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						CTTTGAAGCTCGTGTCAGGGA	0.537000														10			8		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40113039	40113039	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:40113039G>A	uc002xka.1	-	14	2388	c.2210C>T	c.(2209-2211)aCc>aTc	p.T737I	CHD6_uc002xkd.2_Missense_Mutation_p.T715I	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	737					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTCCATCATGGTGTTGATGAG	0.493000														163			58		0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092435	151092435	+	Missense_Mutation	SNP	C	T	T	rs140138379		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151092435C>T	uc022cgv.1	+	0	299	c.299C>T	c.(298-300)cCt>cTt	p.P100L	MAGEA4_uc004fez.3_Missense_Mutation_p.P100L|MAGEA4_uc004ffa.3_Missense_Mutation_p.P100L|MAGEA4_uc004ffb.3_Missense_Mutation_p.P100L|MAGEA4_uc022cgu.1_Missense_Mutation_p.P128L|MAGEA4_uc004ffc.3_Missense_Mutation_p.P100L|MAGEA4_uc004ffd.3_Missense_Mutation_p.P100L	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	100							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGCACCTCGCCTGACGCAGAG	0.557000														49			29		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66980196	66980196	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:66980196C>T	uc002jhu.3	-	35	4642	c.4499_splice	c.e35+1	p.R1500_splice	ABCA9_uc010dez.3_Splice_Site_p.R1462_splice	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1500	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CAGGCACTCACCTCAGCCTTC	0.592000														80			45		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095457	130095457	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:130095457G>A	uc010htj.1	+	2	939	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	149	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GTCTGAGGATGAAGTGGAAGA	0.522000														17			10		0	0	1	0	0
ELANE	1991	broad.mit.edu	37	19	856138	856138	+	Missense_Mutation	SNP	C	T	T	rs143579306	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:856138C>T	uc002lqb.3	+	4	816	c.778C>T	c.(778-780)Ccg>Tcg	p.P260S		NM_001972	NP_001963	P08246	ELNE_HUMAN	Homo sapiens elastase, neutrophil expressed (ELANE), mRNA.	260					cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCCCCGGGACCCGGACCCGGC	0.612000														186			51		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7571684	7571684	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7571684C>T	uc003mxp.1	+	13	2049	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	DSP_uc003mxq.1_Silent_p.F590F|DSP_uc021yle.1_Silent_p.F590F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	590	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)		ACCAAGAGTTCATCAGAAATA	0.458000														266			30		0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72295967	72295967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72295967G>A	uc002jkf.3	+	6	945	c.835G>A	c.(835-837)Gag>Aag	p.E279K	DNAI2_uc002jkg.3_Missense_Mutation_p.E279K|DNAI2_uc010dfp.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	279					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GACGGGCACCGAGTGCTTCTC	0.617000									Kartagener syndrome					40			15		0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30536515	30536515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30536515G>A	uc002dyk.4	-	1	1122	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S	ZNF768_uc010vex.2_Missense_Mutation_p.P285S|ZNF768_uc010vew.2_Missense_Mutation_p.P285S	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	316					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CATTTGTAGGGCCGCTCGCCA	0.607000														76			6		0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74763927	74763927	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74763927C>T	uc002smp.1	-	4	893	c.821G>A	c.(820-822)gGg>gAg	p.G274E	LOXL3_uc002smo.1_Intron|LOXL3_uc010ffm.1_Missense_Mutation_p.G274E|LOXL3_uc002smq.1_Intron|LOXL3_uc010ffn.1_Intron	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	274	SRCR 2.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TGCAGGGCCCCCCCCAGGGCA	0.642000														95			44		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832380	61832380	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61832380C>T	uc001jky.3	-	36	8597	c.8259G>A	c.(8257-8259)gaG>gaA	p.E2753E	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.	2753					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						GTAGCTTGCTCTCCTGTATTT	0.403000														132			48		0	0	1	0	0
PROCR	10544	broad.mit.edu	37	20	33764245	33764245	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33764245G>A	uc002xbt.3	+	2	781	c.597G>A	c.(595-597)acG>acA	p.T199T	EDEM2_uc010zuv.1_Intron	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	Homo sapiens protein C receptor, endothelial (PROCR), mRNA.	199					antigen processing and presentation|blood coagulation|immune response	MHC class I protein complex|integral to plasma membrane	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CGGAAAACACGAAAGGTATGA	0.547000														70			28		0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123513287	123513287	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123513287G>A	uc001pza.1	-	3	719	c.312C>T	c.(310-312)tcC>tcT	p.S104S	SCN3B_uc001pzb.1_Silent_p.S104S	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	104	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GCACAGTGATGGACACGTCCT	0.567000														65			23		0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39960881	39960881	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39960881C>T	uc002olo.4	+	16	1676	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	SUPT5H_uc002olp.4_Silent_p.F499F|SUPT5H_uc002olq.4_Silent_p.F495F|SUPT5H_uc002oln.4_Silent_p.F499F|SUPT5H_uc002olr.4_Silent_p.F499F|SUPT5H_uc002ols.1_Silent_p.F122F|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	499	KOW 3.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGAGAATTTCGTTATCCTGT	0.552000														122			52		0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30139662	30139662	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30139662G>A	uc010jrx.3	+	6	1413	c.934G>A	c.(934-936)Gac>Aac	p.D312N		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	312	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TCTCTCGGAAGACAGGAAGTC	0.652000														14			5		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2411133	2411133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:2411133G>A	uc002wfy.1	+	10	1781	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K	TGM6_uc010gal.1_Missense_Mutation_p.E574K	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	574					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TAAGTATAAAGAAGACCTGAC	0.458000														96			42		0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22310278	22310278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22310278C>T	uc001bfk.3	+	4	569	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	CELA3B_uc009vqf.3_Intron	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	152	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TGACATCCTTCCCAACGAGAC	0.622000														107			33		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	432714	432714	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:432714G>A	uc003bot.3	+	21	3305	c.2663G>A	c.(2662-2664)gGa>gAa	p.G888E	CHL1_uc003bou.3_Missense_Mutation_p.G872E|CHL1_uc003bow.2_Missense_Mutation_p.G872E|CHL1_uc011asi.2_Missense_Mutation_p.G888E	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	872	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGATTTTCAGGACAAAGAAAC	0.363000														69			31		0	0	1	0	0
EMCN	51705	broad.mit.edu	37	4	101396232	101396232	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:101396232C>T	uc003hvr.3	-	2	401	c.222G>A	c.(220-222)ctG>ctA	p.L74L	EMCN_uc011cel.2_Silent_p.L74L|EMCN_uc011cem.2_Silent_p.L74L	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN	Homo sapiens endomucin (EMCN), transcript variant 1, mRNA.	74	Thr-rich.					extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		CTGTTGACATCAGAGACATTT	0.229000														58			7		0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35860728	35860728	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:35860728C>T	uc002xgp.3	+	13	1915	c.1611C>T	c.(1609-1611)ccC>ccT	p.P537P	RPN2_uc002xgq.3_Silent_p.P505P	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	537					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				AGAAGAGGCCCCCCACCGTGG	0.572000														179			39		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626796	108626796	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:108626796C>T	uc002tdv.3	+	8	1498	c.1222C>T	c.(1222-1224)Ctc>Ttc	p.L408F	SLC5A7_uc010ywm.2_Missense_Mutation_p.L161F|SLC5A7_uc010fjj.3_Missense_Mutation_p.L408F|SLC5A7_uc010ywn.2_Missense_Mutation_p.L295F	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	408					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GCTCTGGTACCTCAGTTCTGA	0.473000														90			16		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858321	9858321	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:9858321G>A	uc010uym.2	-	13	3390	c.3080C>T	c.(3079-3081)tCc>tTc	p.S1027F	GRIN2A_uc002czo.4_Missense_Mutation_p.S1027F|GRIN2A_uc010uyn.2_Missense_Mutation_p.S870F|GRIN2A_uc002czr.4_Missense_Mutation_p.S1027F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1027					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGATTCTGGGATAGTGAATC	0.542000														123			18		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41583305	41583305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:41583305C>T	uc003xok.3	-	5	670	c.586G>A	c.(586-588)Gac>Aac	p.D196N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.D196N|ANK1_uc003xoj.3_Missense_Mutation_p.D196N|ANK1_uc003xol.3_Missense_Mutation_p.D196N|ANK1_uc003xom.3_Missense_Mutation_p.D229N	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	196	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGGTTGGGGTCGTTCTGCAGC	0.716000														13			7		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233372591	233372591	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233372591C>T	uc001hvl.2	-	9	2593	c.2358_splice	c.e9+1	p.R786_splice	PCNXL2_uc009xfu.3_Splice_Site|PCNXL2_uc009xfv.1_Splice_Site|PCNXL2_uc001hvq.1_Splice_Site_p.R85_splice	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	786						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)				ATGTACGTACCCGTGGGGTTT	0.507000														160			38		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45706614	45706614	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:45706614G>A	uc002zei.2	+	2	434	c.307_splice	c.e2+1	p.D103_splice		NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	103	HSR.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CTTCCCCAAAGGTGGGTCCTG	0.637000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					68			23		0	0	1	0	0
NEURL	9148	broad.mit.edu	37	10	105330819	105330819	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105330819C>T	uc001kxh.3	+	1	686	c.276C>T	c.(274-276)gcC>gcT	p.A92A	NEURL_uc021pxn.1_Silent_p.A75A	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	92	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TCTGCAACGCCATCACCTTCA	0.662000														57			22		0	0	1	0	0
RNF180	285671	broad.mit.edu	37	5	63509401	63509401	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:63509401G>A	uc003jti.3	+	3	358	c.248G>A	c.(247-249)gGa>gAa	p.G83E	RNF180_uc003jth.4_Missense_Mutation_p.G83E|RNF180_uc010iws.3_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	Homo sapiens ring finger protein 180 (RNF180), transcript variant 1, mRNA.	83						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		TGGACAGTTGGAAAACTGAAT	0.418000														183			80		0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29938169	29938169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:29938169G>A	uc004dby.2	+	7	1523	c.1015G>A	c.(1015-1017)Gga>Aga	p.G339R		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	339	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGTTGAAAATGGAAATGGACG	0.433000														25			42		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8471043	8471043	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:8471043C>T	uc003zkk.3	-	30	4199	c.3456G>A	c.(3454-3456)ggG>ggA	p.G1152G	PTPRD_uc003zkp.3_Silent_p.G741G|PTPRD_uc003zkq.3_Silent_p.G741G|PTPRD_uc003zkr.3_Silent_p.G736G|PTPRD_uc003zks.3_Silent_p.G731G|PTPRD_uc022bdj.1_Silent_p.G738G	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1152					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1151H(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGATAAATTTCCCGCGAGATT	0.368000										TSP Lung(15;0.13)				121			13		0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71740870	71740870	+	Silent	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:71740870G>C	uc002llf.2	-	9	1439	c.1359C>G	c.(1357-1359)ccC>ccG	p.P453P	FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Silent_p.P377P	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	377										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AGCTGTCAGAGGGTGTGGCAG	0.522000														212			63		0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573347	136573347	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:136573347G>A	uc003erf.4	+	1	259	c.45G>A	c.(43-45)gtG>gtA	p.V15V	SLC35G2_uc003erg.4_Silent_p.V15V|SLC35G2_uc010hub.3_Silent_p.V15V|SLC35G2_uc021xem.1_Silent_p.V15V	NM_001097600	NP_079522	Q8TBE7	TMM22_HUMAN	Homo sapiens transmembrane protein 22 (TMEM22), transcript variant 3, mRNA.	15						Golgi apparatus|integral to membrane											AAAAACGGGTGAAAATACATC	0.328000														149			73		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53975609	53975609	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:53975609C>T	uc001cvr.1	-	7	2017	c.1450G>A	c.(1450-1452)Ggg>Agg	p.G484R		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	484	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGCTGGCCCCCCGGAGAATGG	0.692000														14			3		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126746129	126746129	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:126746129G>A	uc003kuh.4	+	9	1328	c.966G>A	c.(964-966)gaG>gaA	p.E322E	MEGF10_uc010jdc.1_Silent_p.E322E|MEGF10_uc010jdd.1_Silent_p.E322E|MEGF10_uc003kui.4_Silent_p.E322E	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	322	EGF-like 6.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TCTGTGCTGAGACCTGCCAGT	0.562000														42			17		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44684879	44684879	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44684879G>A	uc010zxl.1	+	21	3023	c.2947G>A	c.(2947-2949)Gct>Act	p.A983T	SLC12A5_uc002xrb.2_Missense_Mutation_p.A960T	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	983					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGAAGAGACGGCTGGTGACAG	0.577000														54			26		0	0	1	0	0
PELO	53918	broad.mit.edu	37	5	52096834	52096834	+	Silent	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:52096834A>T	uc003jos.3	+	1	1591	c.606A>T	c.(604-606)gtA>gtT	p.V202V	ITGA1_uc003jou.3_Intron|ITGA1_uc003jov.3_Intron	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN	Homo sapiens pelota homolog (Drosophila) (PELO), mRNA.	202					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				TTGATGTTGTAAAGTGCATCC	0.517000														78			41		0	0	1	0	0
C14orf49	161176	broad.mit.edu	37	14	95932532	95932532	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:95932532G>A	uc001yei.4	-	2	378	c.363C>T	c.(361-363)gcC>gcT	p.A121A	C14orf49_uc010avi.3_Silent_p.A121A|C14orf49_uc001yej.1_Silent_p.A121A	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	121					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding	p.A121A(2)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		ACTCATCTCGGGCCAGCAGGT	0.617000														102			19		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142569570	142569571	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142569570_142569571GG>AA	uc003wbx.2	-	14	2296_2297	c.2067_2068CC>TT	c.(2065-2070)tcccgc>tcTTgc	p.R690C	TRPV6_uc003wbw.1_Missense_Mutation_p.R476C|TRPV6_uc010lou.1_Missense_Mutation_p.R561C	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	690					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	p.R690C(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GCACTGCTGCGGGAGGTACTTC	0.569000														54			13		0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173596232	173596232	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:173596232C>T	uc001gja.1	-	3	624	c.563G>A	c.(562-564)gGa>gAa	p.G188E		NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	204										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TTTCCCTGATCCCTTTTCTGT	0.358000														114			31		0	0	1	0	0
SYT8	90019	broad.mit.edu	37	11	1856416	1856416	+	Silent	SNP	C	T	T	rs144532203	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1856416C>T	uc001lue.1	+	1	251	c.123C>T	c.(121-123)gtC>gtT	p.V41V	SYT8_uc010qxb.1_Silent_p.V27V|SYT8_uc001lud.2_Silent_p.V41V|SYT8_uc009ydb.2_Silent_p.V27V	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	Homo sapiens synaptotagmin VIII (SYT8), mRNA.	41						acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGACCTTGTCGCCGGGACCC	0.622000														46			26		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2884530	2884530	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:2884530C>T	uc010ckd.3	+	9	807	c.717C>T	c.(715-717)gtC>gtT	p.V239V	RAP1GAP2_uc010cke.3_Silent_p.V224V	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	239					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TCAATCCTGTCCTGTACCCCA	0.527000														10			8		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21954013	21954013	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21954013C>T	uc001rfh.3	-	37	4635	c.4615G>A	c.(4615-4617)Gga>Aga	p.G1539R		NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1539	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCAAATACTCCATTTTCCTGA	0.378000														56			17		0	0	1	0	0
CLRN3	119467	broad.mit.edu	37	10	129681992	129681992	+	Missense_Mutation	SNP	G	A	A	rs141771225		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:129681992G>A	uc001lka.1	-	1	540	c.377C>T	c.(376-378)cCg>cTg	p.P126L	CLRN3_uc001ljz.1_Missense_Mutation_p.P58L	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	Homo sapiens clarin 3 (CLRN3), mRNA.	126						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				CACCCCCGTCGGCCCCAGGAA	0.572000														66			28		0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120992561	120992561	+	Missense_Mutation	SNP	C	T	T	rs138704590		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:120992561C>T	uc001typ.4	+	3	1078	c.595C>T	c.(595-597)Cat>Tat	p.H199Y	RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Missense_Mutation_p.H105Y	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	199					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTACACAGCTCATTTTGCTGA	0.428000														149			40		0	0	1	0	0
DENND1B	163486	broad.mit.edu	37	1	197522230	197522230	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197522230G>A	uc021pgu.1	-	15	1500	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	DENND1B_uc010ppf.2_Intron|DENND1B_uc001guf.3_Nonsense_Mutation_p.R388*|DENND1B_uc001gue.3_Nonsense_Mutation_p.R358*	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	388	dDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	p.R358*(1)|p.R388*(1)|p.R28*(1)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TTTGCCAGTCGACCATCGATA	0.299000														75			9		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139197070	139197070	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:139197070G>A	uc003leu.1	+	4	1226	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	341	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)			TGGCAGCAACGAGTTTAGCAG	0.587000														56			26		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151166599	151166599	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151166599C>T	uc011bod.2	-	3	1170	c.1170G>A	c.(1168-1170)agG>agA	p.R390R		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	390					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAAGTGGCTCCTTTCTAGTA	0.413000														34			28		0	0	1	0	0
SOHLH1	402381	broad.mit.edu	37	9	138587048	138587048	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:138587048G>A	uc010nbe.3	-	5	784	c.723C>T	c.(721-723)ccC>ccT	p.P241P	SOHLH1_uc004cgl.3_Silent_p.P241P	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	241					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GCCAGGACAGGGGTGGCCTCA	0.692000														13			4		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63019376	63019376	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:63019376G>A	uc002alb.4	+	24	3346	c.3346G>A	c.(3346-3348)Gaa>Aaa	p.E1116K		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1116	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCAAGGCAACGAACACTACAC	0.562000														49			7		0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170278	90170278	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:90170278G>A	uc003hsm.1	-	1	1503	c.984C>T	c.(982-984)gtC>gtT	p.V328V	GPRIN3_uc021xqb.1_Silent_p.V328V	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	328								p.V328G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ATCTGCTCTCGACACTCGCCA	0.527000														93			42		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2946452	2946452	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:2946452C>T	uc003smv.3	-	24	3619	c.3285G>A	c.(3283-3285)acG>acA	p.T1095T		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	1095	Guanylate kinase-like.				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	p.R1094H(1)		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)		ACTCCTCCTCCGTCTCAGGTC	0.682000			Mis		DLBCL									24			16		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529732	5529732	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5529732G>A	uc021qcw.1	-	0	1057	c.1057C>T	c.(1057-1059)Ccc>Tcc	p.P353S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.P353S	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	353										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGACTGGGGGTTCTCGTGT	0.498000														96			46		0	0	1	0	0
PANX2	56666	broad.mit.edu	37	22	50615655	50615655	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50615655C>T	uc003bjn.4	+	1	514	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	PANX2_uc003bjp.4_Missense_Mutation_p.R38C|PANX2_uc003bjo.4_Missense_Mutation_p.R172C	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	172					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GGCCGAGGGCCGCGCGCCCAA	0.662000														17			7		0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103032170	103032171	+	Silent	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:103032170_103032171GG>AA	uc003vbz.3	-	10	1393_1394	c.1131_1132CC>TT	c.(1129-1134)gccctg>gcTTtg	p.377_378AL>AL	SLC26A5_uc003vbt.2_Silent_p.377_378AL>AL|SLC26A5_uc003vbu.2_Silent_p.377_378AL>AL|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Silent_p.377_378AL>AL	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	377					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CACAGTCCCAGGGCAATGAGCT	0.436000														26			5		0	0	1	0	0
CRTAM	56253	broad.mit.edu	37	11	122720888	122720888	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:122720888C>T	uc001pyj.3	+	1	159	c.159C>T	c.(157-159)ccC>ccT	p.P53P		NM_019604	NP_062550	O95727	CRTAM_HUMAN	Homo sapiens cytotoxic and regulatory T cell molecule (CRTAM), mRNA.	53	Ig-like V-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGCTGACCCCCTCAGGGTTCA	0.483000														81			24		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644608	169644608	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:169644608A>T	uc003fgd.3	+	5	825	c.558A>T	c.(556-558)aaA>aaT	p.K186N	SAMD7_uc003fge.3_Missense_Mutation_p.K186N|SAMD7_uc011bpo.2_Missense_Mutation_p.K87N	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	186										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GACTCAGGAAAAATACAGGGA	0.483000														74			29		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100127991	100127991	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:100127991C>T	uc003yiv.3	+	6	937	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	VPS13B_uc003yiw.3_Missense_Mutation_p.R276C|VPS13B_uc003yit.3_Missense_Mutation_p.R276C|VPS13B_uc003yiu.1_Missense_Mutation_p.R276C|VPS13B_uc003yis.3_Missense_Mutation_p.R276C|VPS13B_uc011lgy.2_Missense_Mutation_p.R152C	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	276					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)			TATGTTTATTCGTATAATGCA	0.333000														93			10		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31286972	31286972	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31286972C>T	uc002ebr.3	+	8	1059	c.961C>T	c.(961-963)Ctg>Ttg	p.L321L	ITGAM_uc002ebq.3_Silent_p.L321L|ITGAM_uc010cam.1_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	321	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTTTGAGGCTCTGAAGACCAT	0.557000														57			5		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81697756	81697756	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:81697756G>A	uc001kbh.3	-	7	1023	c.980C>T	c.(979-981)cCc>cTc	p.P327L		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	327	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CTCTCCTGTGGGGTAGGTGAA	0.572000														196			75		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468850	10468850	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10468850G>A	uc003wtc.3	-	3	2987	c.2758C>T	c.(2758-2760)Cgg>Tgg	p.R920W		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	920					intracellular signal transduction			p.R920R(1)		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)		GACAGCCCCCGAGACCCCGCA	0.706000														32			4		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233807177	233807177	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233807177C>T	uc010pxo.1	+	2	1080	c.912C>T	c.(910-912)atC>atT	p.I304I		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	304						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCTCCTCGATCACAGACCAGG	0.488000														66			8		0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59947646	59947646	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:59947646C>T	uc002lil.3	+	22	3236	c.3021C>T	c.(3019-3021)gcC>gcT	p.A1007A	KIAA1468_uc010xel.2_Intron|KIAA1468_uc002lim.3_Intron	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	1007							binding	p.P1006S(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTGCTCCGGCCCTTGTTACCT	0.438000														133			27		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50850753	50850753	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:50850753C>T	uc021vhh.1	-	5	1754	c.833_splice	c.e5-1	p.G278_splice	NRXN1_uc002rxb.4_Splice_Site|NRXN1_uc021vhg.1_Splice_Site_p.G311_splice|NRXN1_uc021vhi.1_Splice_Site_p.G307_splice|NRXN1_uc021vhj.1_Splice_Site_p.G274_splice|NRXN1_uc002rxc.1_Splice_Site	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	278					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTCTTCTTTTCCTAGAGGAAA	0.363000														21			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8997177	8997177	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8997177G>A	uc002mkp.3	-	59	41223	c.41019C>T	c.(41017-41019)tcC>tcT	p.S13673S	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.S490S|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13675	SEA 11.			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						TCTTGAACAGGGACCTGAGCT	0.587000														67			25		0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746607	77746607	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:77746607G>A	uc002snr.3	-	2	803	c.388C>T	c.(388-390)Cac>Tac	p.H130Y	LRRTM4_uc002snq.3_Missense_Mutation_p.H130Y|LRRTM4_uc002sns.2_Missense_Mutation_p.H130Y|LRRTM4_uc002snt.2_Missense_Mutation_p.H131Y	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	130						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGAACTGGGTGAAATGTTTTA	0.388000														44			36		0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64055334	64055334	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64055334C>T	uc010rni.2	+	4	751	c.723C>T	c.(721-723)ttC>ttT	p.F241F	GPR137_uc010rnj.2_Silent_p.F183F|GPR137_uc001nze.2_Silent_p.F183F|GPR137_uc001nzf.3_Silent_p.F183F|GPR137_uc001nzh.2_Silent_p.F183F|GPR137_uc001nzi.3_Silent_p.F183F|GPR137_uc021qkt.1_Silent_p.F183F	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	183						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						ACTCCCTGTTCGTCATCTGCG	0.662000														49			21		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72509694	72509694	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72509694G>A	uc001jrg.3	+	15	2389	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	ADAMTS14_uc001jrh.3_Missense_Mutation_p.E794K	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	794	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGATGCCAAGGAAAGCCTCAA	0.642000														63			13		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169201675	169201675	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169201675C>T	uc003irp.3	-	13	2081	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	597							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)		TTTTGCTCTTCCTTTTGTTCT	0.363000														51			16		0	0	1	0	0
TRIM72	493829	broad.mit.edu	37	16	31235609	31235609	+	Missense_Mutation	SNP	G	A	A	rs112486041		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31235609G>A	uc002ebn.2	+	6	1251	c.967G>A	c.(967-969)Gag>Aag	p.E323K	TRIM72_uc002ebp.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.	323	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GCCGGCCGGGGAGGACCCGCG	0.706000														20			9		0	0	1	0	0
CLUL1	27098	broad.mit.edu	37	18	641370	641370	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:641370G>A	uc010wys.2	+	8	1428	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	CLUL1_uc002kkp.3_Silent_p.A346A|CLUL1_uc002kkq.3_Silent_p.A346A	NM_199167	NP_954636	Q15846	CLUL1_HUMAN	Homo sapiens clusterin-like 1 (retinal) (CLUL1), transcript variant 2, mRNA.	346					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TAGACGAGGCGATCAGGTTGG	0.493000														81			21		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900098	151900098	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151900098C>T	uc022chj.1	-	0	703	c.703G>A	c.(703-705)Gag>Aag	p.E235K	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.E235K|MAGEA12_uc022chi.1_Missense_Mutation_p.E235K|MAGEA12_uc004fgc.3_Missense_Mutation_p.E235K	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	235	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ACACTGTCCTCCCTCCCATCA	0.562000														69			86		0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223806250	223806250	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:223806250C>T	uc002vni.3	+	16	2492	c.2041C>T	c.(2041-2043)Cgt>Tgt	p.R681C	ACSL3_uc002vnj.3_Missense_Mutation_p.R681C	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	681					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	p.R681C(8)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AGTAAAAATTCGTTTGAGTCC	0.378000			T	ETV1	prostate									55			32		0	0	1	0	0
LRRC10	376132	broad.mit.edu	37	12	70003892	70003892	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70003892C>T	uc001svc.3	-	0	1051	c.727G>A	c.(727-729)Gag>Aag	p.E243K		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Homo sapiens leucine rich repeat containing 10 (LRRC10), mRNA.	243						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TCTGGCGTCTCCTCTGCCCAT	0.582000														63			15		0	0	1	0	0
PANX1	24145	broad.mit.edu	37	11	93911540	93911540	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:93911540C>T	uc001per.3	+	2	712	c.327C>T	c.(325-327)ttC>ttT	p.F109F	PANX1_uc001peq.3_Silent_p.F109F	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	Homo sapiens pannexin 1 (PANX1), mRNA.	109					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCAGTTTTTCCCCTACATCC	0.478000														64			15		0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173679074	173679074	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:173679074C>T	uc002uhv.4	+	3	552	c.365C>T	c.(364-366)cCc>cTc	p.P122L	RAPGEF4_uc002uhu.2_Missense_Mutation_p.P122L|RAPGEF4_uc010fqn.3_Missense_Mutation_p.P105L	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	122					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GACAACACACCCCGCCATGCA	0.517000														94			38		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155792079	155792079	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155792079G>A	uc001flz.2	-	3	983	c.886C>T	c.(886-888)Cat>Tat	p.H296Y	GON4L_uc001fly.1_Missense_Mutation_p.H296Y|GON4L_uc009wrh.1_Missense_Mutation_p.H296Y|GON4L_uc001fma.1_Missense_Mutation_p.H296Y|GON4L_uc001fmc.3_Missense_Mutation_p.H296Y|GON4L_uc001fmd.4_Missense_Mutation_p.H296Y|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Missense_Mutation_p.H124Y|GON4L_uc001fmf.3_5'Flank	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	296					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTACTCACATGAAGGATGTTT	0.418000														100			49		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21712328	21712328	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21712328G>A	uc002djh.3	+	9	961	c.960G>A	c.(958-960)agG>agA	p.R320R	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.R241R	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	320					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TTAACATGAGGAATACCTCCA	0.522000														46			17		0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51243806	51243806	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:51243806G>A	uc001wyi.3	-	6	718	c.527C>T	c.(526-528)tCt>tTt	p.S176F	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.S176F|NIN_uc001wyk.3_Missense_Mutation_p.S176F|NIN_uc001wyo.3_Missense_Mutation_p.S176F|NIN_uc001wyp.1_Missense_Mutation_p.S138F	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	176					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GGGAGGGGAAGATCCACTCTG	0.478000			T	PDGFRB	MPD									85			26		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21108367	21108367	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:21108367C>T	uc001iqi.3	-	19	2438	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	681					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTCAGCTGCTCCTGGTTTCGC	0.428000														153			84		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43414954	43414954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43414954C>T	uc002ovj.1	-	2	583	c.484G>A	c.(484-486)Gag>Aag	p.E162K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.E162K	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	163	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CGCACAGCCTCCATGACCTCC	0.542000														256			58		0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510379	56510379	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56510379G>A	uc010rjo.2	-	0	909	c.909C>T	c.(907-909)ctC>ctT	p.L303L		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGCTATAGATGAGAGGGTTGA	0.433000														92			37		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262462	140262462	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140262462G>A	uc003lif.2	+	0	609	c.609G>A	c.(607-609)gaG>gaA	p.E203E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.E203E|PCDHAC2_uc003lid.3_Silent_p.E203E	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	218	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.E202*(1)		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)			TGGACAGAGAGGAAATTCAGG	0.448000														98			8		0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370810	35370810	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:35370810G>A	uc001byc.3	-	0	175	c.175C>T	c.(175-177)Cct>Tct	p.P59S		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	59					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGCCCTTCAGGAGAAATGTGT	0.711000														7			3		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94316839	94316839	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:94316839C>T	uc011cdt.2	+	8	1585	c.1327C>T	c.(1327-1329)Cta>Tta	p.L443L	GRID2_uc011cdu.2_Silent_p.L348L	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	443					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.V442L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGGAGTGGTTCTACGTGTAGT	0.393000														84			33		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667199	157667199	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:157667199G>A	uc001fqz.4	-	5	867	c.575C>T	c.(574-576)cCt>cTt	p.P192L	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Intron|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Missense_Mutation_p.P192L|FCRL3_uc001frc.1_Missense_Mutation_p.P192L	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	192	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTCAGCACAGGATGTAGAAA	0.527000														68			11		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657106	143657106	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143657106C>T	uc003wds.1	+	0	87	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ATTTATTCTCCTCGGCCTGTC	0.453000														136			59		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053361	17053361	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:17053361C>T	uc011awc.2	+	2	2595	c.2499C>T	c.(2497-2499)ttC>ttT	p.F833F	PLCL2_uc011awd.2_Silent_p.F715F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	841	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGGATGAATTCATCGGCCAGT	0.468000														102			41		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753646	76753646	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:76753646C>T	uc002lmt.3	+	1	1655	c.1655C>T	c.(1654-1656)tCc>tTc	p.S552F	SALL3_uc010dra.3_Missense_Mutation_p.S159F	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCAGCCGCTCCCCGCAGAGG	0.746000														18			4		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50744591	50744591	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:50744591C>T	uc002egm.1	+	3	874	c.769C>T	c.(769-771)Ctg>Ttg	p.L257L	NOD2_uc021tia.1_Silent_p.L89L|NOD2_uc010cbk.1_Silent_p.L230L|NOD2_uc002egl.1_Silent_p.L35L|NOD2_uc010cbl.1_Silent_p.L35L|NOD2_uc010cbm.1_Silent_p.L35L|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	257					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGAGAATGTCCTGGAGGTCTG	0.607000														33			6		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42490089	42490090	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42490089_42490090CC>TT	uc002osh.3	-	5	686_687	c.532_533GG>AA	c.(532-534)ggg>AAg	p.G178K	ATP1A3_uc010xwf.2_Missense_Mutation_p.G189K|ATP1A3_uc010xwg.2_Missense_Mutation_p.G148K|ATP1A3_uc002osg.3_Missense_Mutation_p.G178K|ATP1A3_uc010xwh.2_Missense_Mutation_p.G191K			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	178					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CACCAGGTCCCCGACCACCACC	0.629000														128			42		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47765425	47765425	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47765425G>A	uc003gxm.3	-	3	681	c.588C>T	c.(586-588)ttC>ttT	p.F196F	CORIN_uc011bzf.2_Silent_p.F57F|CORIN_uc011bzg.2_Silent_p.F129F|CORIN_uc011bzh.1_Silent_p.F196F|CORIN_uc011bzi.1_Silent_p.F196F|CORIN_uc003gxn.4_Silent_p.F196F	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	196	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TGCACTCAGGGAAGGCGAGGG	0.413000														26			8		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152534253	152534253	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152534253C>T	uc021vrb.1	-	31	3629	c.3600G>A	c.(3598-3600)atG>atA	p.M1200I	NEB_uc002txu.3_Missense_Mutation_p.M1200I|NEB_uc021vrc.1_Missense_Mutation_p.M1200I|NEB_uc010fnx.3_Missense_Mutation_p.M1200I|NEB_uc021vrd.1_Missense_Mutation_p.M1200I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1200					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAATGCCTTTCATCCAGTTGT	0.463000														268			88		0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105198317	105198317	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:105198317G>A	uc003pqu.1	-	19	2519	c.2242C>T	c.(2242-2244)Cga>Tga	p.R748*	HACE1_uc010kcy.1_Nonsense_Mutation_p.R230*|HACE1_uc010kcz.1_Nonsense_Mutation_p.R533*|HACE1_uc010kcx.1_Nonsense_Mutation_p.R157*|HACE1_uc003pqt.1_Nonsense_Mutation_p.R401*	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	748	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTTGTCATTCGAAGTTCAGTA	0.348000														20			14		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551584	1551584	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:1551584C>T	uc010gai.3	-	3	1050	c.951G>A	c.(949-951)gtG>gtA	p.V317V	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	317	Ig-like C1-type 2.				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						CACAGGTGTTCACCAGGAGCC	0.552000														135			17		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72049968	72049968	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:72049968C>T	uc021rkj.1	-	8	2313	c.1890G>A	c.(1888-1890)aaG>aaA	p.K630K	DACH1_uc021rkk.1_Silent_p.K482K|DACH1_uc021rkl.1_Silent_p.K428K	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	680	DACHbox-C.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCTTTAGCCTCTTTTGAACTA	0.333000														133			26		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142571444	142571444	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142571444C>T	uc003wbx.2	-	12	1774	c.1545G>A	c.(1543-1545)gaG>gaA	p.E515E	TRPV6_uc003wbw.1_Silent_p.E301E|TRPV6_uc010lou.1_Silent_p.E386E	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	515					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CCTCGGGGTCCTCTGTCTGGA	0.587000														140			15		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85500354	85500354	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:85500354C>T	uc001tac.3	+	14	3449	c.3338C>T	c.(3337-3339)tCt>tTt	p.S1113F	LRRIQ1_uc021rbo.1_Missense_Mutation_p.S991F	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1113										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CATGAATTGTCTCTTACTGGA	0.338000														83			25		0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64746706	64746706	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:64746706G>A	uc021qzu.1	-	1	383	c.383C>T	c.(382-384)cCa>cTa	p.P128L	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Missense_Mutation_p.P128L	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	128								p.F127F(1)		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)		ATGATGAAATGGAAATAGGAA	0.313000														46			15		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764593	92764593	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92764593G>A	uc003umh.1	-	4	1908	c.692C>T	c.(691-693)tCa>tTa	p.S231L	SAMD9L_uc003umj.1_Missense_Mutation_p.S231L|SAMD9L_uc003umi.1_Missense_Mutation_p.S231L|SAMD9L_uc010lfb.1_Missense_Mutation_p.S231L|SAMD9L_uc003umk.1_Missense_Mutation_p.S231L|SAMD9L_uc010lfc.1_Missense_Mutation_p.S231L|SAMD9L_uc010lfd.1_Missense_Mutation_p.S231L|SAMD9L_uc022ahh.1_Missense_Mutation_p.S231L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	231										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTGGTGCGTGAATTCATACA	0.438000														96			42		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2824232	2824232	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:2824232C>T	uc022aqr.1	-	57	9350	c.8960G>A	c.(8959-8961)gGa>gAa	p.G2987E	CSMD1_uc011kwj.2_Missense_Mutation_p.G2317E|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2988	Sushi 23.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GACAATCATTCCGTTGGTGGG	0.527000														17			4		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13793832	13793832	+	Silent	SNP	C	T	T	rs112594597		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13793832C>T	uc003jfd.2	-	48	8058	c.8016G>A	c.(8014-8016)acG>acA	p.T2672T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2672	AAA 3 (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)					CTATCTCATTCGTAACCTACA	0.423000									Kartagener syndrome					76			20		0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21903920	21903920	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:21903920G>A	uc001bet.3	+	11	1611	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	ALPL_uc010odo.2_Missense_Mutation_p.E397K|ALPL_uc010odp.2_Missense_Mutation_p.E375K|ALPL_uc010odn.2_Missense_Mutation_p.E400K|ALPL_uc001beu.4_Missense_Mutation_p.E452K	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	452			E -> K (in HOPS).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CCTGCGCCACGAGACCCACGG	0.687000														38			26		0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87392992	87392992	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:87392992C>T	uc003ydt.3	+	3	388	c.108C>T	c.(106-108)ttC>ttT	p.F36F	WWP1_uc010mai.3_5'UTR	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	36	C2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AGAACTGGTTCGGAACAGCAA	0.348000														38			9		0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19638318	19638318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:19638318C>T	uc002ykv.3	+	5	1176	c.785C>T	c.(784-786)tCa>tTa	p.S262L	CHODL_uc002ykr.3_Missense_Mutation_p.S221L|CHODL_uc002yks.3_Missense_Mutation_p.S221L|CHODL_uc021whr.1_Missense_Mutation_p.S221L|CHODL_uc002ykt.3_Nonsense_Mutation_p.Q187*|CHODL_uc002yku.3_Nonsense_Mutation_p.Q187*|CHODL_uc021whs.1_Missense_Mutation_p.S243L	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	262					muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		CTGTGGATTTCAAAGAGTACC	0.323000														62			27		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10409243	10409243	+	Missense_Mutation	SNP	G	A	A	rs142560385	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10409243G>A	uc002gmo.3	-	18	2154	c.2060C>T	c.(2059-2061)gCc>gTc	p.A687V	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	687	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATGCTCCATGGCACCTAAAAG	0.473000														54			7		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	402001	402001	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:402001G>A	uc003bot.3	+	11	1842	c.1200G>A	c.(1198-1200)agG>agA	p.R400R	CHL1_uc003bou.3_Silent_p.R384R|CHL1_uc003bow.2_Silent_p.R384R|CHL1_uc011asi.2_Silent_p.R400R	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	384	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.P399P(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCTTCCCCAGGGAAATCAGTT	0.378000														109			29		0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123152144	123152144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:123152144G>A	uc003vkn.3	-	1	828	c.251C>T	c.(250-252)tCa>tTa	p.S84L	IQUB_uc003vko.3_Missense_Mutation_p.S84L|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.S84L|IQUB_uc003vkq.2_Missense_Mutation_p.S84L	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	84								p.S84P(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTGTCTTGGTGATATAACCTC	0.398000														194			17		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206610599	206610599	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:206610599G>A	uc002vaw.3	+	9	2562	c.1771G>A	c.(1771-1773)Ggc>Agc	p.G591S	NRP2_uc002vau.3_Missense_Mutation_p.G591S|NRP2_uc002vav.3_Missense_Mutation_p.G591S|NRP2_uc002vax.3_Missense_Mutation_p.G591S|NRP2_uc002vay.3_Missense_Mutation_p.G591S	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	591	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGAGGTGCTGGGCTGTGACTG	0.612000														48			15		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227942792	227942792	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:227942792C>T	uc021vxr.1	-	24	1905	c.1804_splice	c.e24-1	p.G602_splice	COL4A4_uc021vxs.1_Splice_Site_p.G602_splice	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	602	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTCATGATCCCCCTGGGAATG	0.507000														22			14		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3084710	3084710	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:3084710G>A	uc003bpc.3	+	21	2900	c.2561G>A	c.(2560-2562)cGa>cAa	p.R854Q	CNTN4_uc003bpb.1_Missense_Mutation_p.R525Q|CNTN4_uc021wsg.1_Missense_Mutation_p.R854Q|CNTN4_uc003bpe.3_Missense_Mutation_p.R526Q|CNTN4_uc003bpf.3_Missense_Mutation_p.R525Q|CNTN4_uc003bpg.3_Missense_Mutation_p.R110Q	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	854	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGAAAAATACGAACAGTTGGA	0.383000														39			11		0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20767011	20767011	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20767011G>A	uc001vwt.3	-	4	641	c.584C>T	c.(583-585)tCt>tTt	p.S195F	TTC5_uc001vwu.3_Missense_Mutation_p.S52F	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	195					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CTGGCCAGTAGAGAAGTAAAG	0.423000														38			20		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73635884	73635884	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:73635884G>A	uc002avp.3	-	1	2045	c.1051C>T	c.(1051-1053)Ccc>Tcc	p.P351S		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	351					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TAGTCCACGGGGATGGAGGAA	0.527000														72			12		0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455863	5455864	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:5455863_5455864GG>AT	uc002mca.4	+	0	438_439	c.361_362GG>AT	c.(361-363)ggc>ATc	p.G121I		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	121						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGCGCTGTTCGGCGTCCCCCTG	0.683000														112			18		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222216	140222217	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140222216_140222217CC>TT	uc003lhs.2	+	0	1310_1311	c.1310_1311CC>TT	c.(1309-1311)gcc>gTT	p.A437V	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_uc003lhr.1_Missense_Mutation_p.A437V	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	451	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)			TCGCTGTGGGCCACCGCCAGCT	0.653000														33			31		0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310132	57310133	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57310132_57310133GG>AA	uc021qjh.1	+	0	19_20	c.17_18GG>AA	c.(16-18)ggg>gAA	p.G6E		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	6										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CAGAAGGAAGGGAAGCTCTCTG	0.599000														26			6		0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30134964	30134964	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30134964G>A	uc010jrx.3	+	1	872	c.393G>A	c.(391-393)agG>agA	p.R131R		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	131					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						ATCGTCTCAGGAGTCGACTGG	0.468000														70			16		0	0	1	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33052914	33052914	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33052914C>T	uc003ocu.2	+	2	668	c.552C>T	c.(550-552)atC>atT	p.I184I	HLA-DPB1_uc011dqo.2_Non-coding_Transcript|HLA-DPB1_uc011dqq.1_Silent_p.I80I	NM_002121	NP_002112	P04440	DPB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP beta 1 (HLA-DPB1), mRNA.	184	Beta-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CCTTCCAGATCCTGGTGATGC	0.562000														104			38		0	0	1	0	0
LAYN	143903	broad.mit.edu	37	11	111425979	111425979	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:111425979G>A	uc001plr.1	+	5	982	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	LAYN_uc001plp.1_Missense_Mutation_p.E208K|LAYN_uc010rwg.1_Missense_Mutation_p.E63K|LAYN_uc010rwh.2_Missense_Mutation_p.E64K	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	Homo sapiens layilin (LAYN), mRNA.	216						cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		AGAAACACAGGAAGAAGATGC	0.398000														39			18		0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50682527	50682527	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:50682527G>A	uc003tpi.2	-	8	1081	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	GRB10_uc003tph.3_Silent_p.F287F|GRB10_uc003tpj.2_Silent_p.F299F|GRB10_uc003tpk.2_Silent_p.F345F|GRB10_uc010kzb.2_Silent_p.F287F|GRB10_uc003tpl.2_Silent_p.F339F|GRB10_uc003tpm.2_Silent_p.F287F	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	345	PH.				insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CGATCAGGGAGAAGATGTTGC	0.572000									Russell-Silver syndrome					113			27		0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087963	49087963	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49087963G>A	uc001rsd.4	-	8	1357	c.1034C>T	c.(1033-1035)cCt>cTt	p.P345L	CCNT1_uc009zkz.2_Missense_Mutation_p.P60L|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	345					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						ACCCTGAGTAGGTTCTAGTTT	0.473000														76			32		0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28620128	28620128	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:28620128C>T	uc002dqn.3	-	4	914	c.322G>A	c.(322-324)Ggg>Agg	p.G108R	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.G17R|SULT1A1_uc002dqi.3_Missense_Mutation_p.G17R|SULT1A1_uc002dqk.3_Missense_Mutation_p.G17R|SULT1A1_uc002dql.3_Missense_Mutation_p.G17R|SULT1A1_uc002dqm.3_Intron|SULT1A1_uc002dqp.3_Missense_Mutation_p.G17R	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	17					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	p.T107A(1)		endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						AGCGGGACCCCCTTCACGTAC	0.637000														78			11		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6985585	6985585	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:6985585C>T	uc002knm.3	-	37	5531	c.5437G>A	c.(5437-5439)Gga>Aga	p.G1813R	LAMA1_uc010wzj.2_Missense_Mutation_p.G1289R	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1813	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATCCTCTTCCTTGGACAATG	0.418000														50			23		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49440321	49440321	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:49440321C>T	uc001jgi.3	-	9	1336	c.1005G>A	c.(1003-1005)ggG>ggA	p.G335G	FRMPD2_uc001jgh.3_Silent_p.G304G|FRMPD2_uc001jgj.3_Silent_p.G304G	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	335					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.G335V(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)		AATAGGATTTCCCTTTTTTGG	0.423000														21			12		0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56075728	56075728	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56075728G>A	uc010spr.2	+	0	399	c.190G>A	c.(190-192)Ggg>Agg	p.G64R		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	Homo sapiens methyltransferase like 7B (METTL7B), mRNA.	64							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						CCAGATAAAGGGGCTTACAGG	0.592000														24			9		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1513857	1513857	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:1513857G>A	uc003wpl.3	+	2	1096	c.999G>A	c.(997-999)caG>caA	p.Q333Q	DLGAP2_uc003wpm.3_Silent_p.Q333Q	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	412					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGGTACCTCAGGATGAGTGGG	0.507000														22			7		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100175854	100175854	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:100175854G>A	uc001tge.2	-	4	1108	c.691C>T	c.(691-693)Cat>Tat	p.H231Y	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.H231Y	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	231						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GCTGCTTCATGAAGTGCACTC	0.373000														14			4		0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67155970	67155970	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:67155970C>T	uc001dcr.3	+	16	1758	c.1541C>T	c.(1540-1542)tCc>tTc	p.S514F	SGIP1_uc010opd.2_Missense_Mutation_p.S114F|SGIP1_uc001dcs.3_Missense_Mutation_p.S114F|SGIP1_uc001dct.3_Missense_Mutation_p.S114F|SGIP1_uc009wat.3_Missense_Mutation_p.S308F	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	514					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCAACCAATTCCTTGAGCGCA	0.468000														175			68		0	0	1	0	0
YTHDF3	253943	broad.mit.edu	37	8	64099987	64099987	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:64099987T>C	uc003xuy.3	+	4	1731	c.1415T>C	c.(1414-1416)tTt>tCt	p.F472S	YTHDF3_uc010lys.3_Missense_Mutation_p.F417S|YTHDF3_uc003xuz.3_Missense_Mutation_p.F417S|YTHDF3_uc003xva.3_Missense_Mutation_p.F417S|YTHDF3_uc011len.2_Missense_Mutation_p.F417S	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	Homo sapiens YTH domain family, member 3 (YTHDF3), mRNA.	473	YTH.											Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			AGTGGACATTTTTGTGGAGTG	0.443000														38			15		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533948	31533948	+	Missense_Mutation	SNP	G	A	A	rs145614024		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31533948G>A	uc003aka.3	-	3	943	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	272	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GGCTGCAGGCGAGCGAGGGGC	0.647000														59			19		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7649458	7649458	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7649458C>T	uc001qsz.3	-	4	1178	c.1050G>A	c.(1048-1050)tgG>tgA	p.W350*	CD163_uc001qta.3_Nonsense_Mutation_p.W350*|CD163_uc009zfw.2_Nonsense_Mutation_p.W350*	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	350	SRCR 3.				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						AATGCTTTCCCCATTCATGGT	0.423000														57			15		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77369707	77369707	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:77369707G>A	uc002ffc.4	-	11	2224	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	ADAMTS18_uc010chc.1_Missense_Mutation_p.S190F|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S298F	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	602	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C601F(1)		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						ACATGTCCGGGAACATTCTGA	0.567000														172			76		0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233272030	233272030	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:233272030C>T	uc002vss.4	+	2	272	c.219C>T	c.(217-219)atC>atT	p.I73I		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	73					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CTGCCAGGATCCTAAAAGGGC	0.602000														51			26		0	0	1	0	0
PAPSS1	9061	broad.mit.edu	37	4	108608330	108608330	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:108608330G>A	uc003hyk.3	-	3	499	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	PAPSS1_uc011cfh.1_Intron	NM_005443	NP_005434	O43252	PAPS1_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPSS1), mRNA.	139					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GCATTGTTGCGATCCttaaaa	0.328000														48			26		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113538641	113538641	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:113538641G>A	uc003iau.3	-	5	2768	c.2557C>T	c.(2557-2559)Cag>Tag	p.Q853*	C4orf21_uc003iaw.3_Nonsense_Mutation_p.Q853*	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	853										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTTCCTTGCTGAAAGACAGTA	0.348000														77			24		0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153724787	153724787	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153724787C>T	uc009wom.3	+	8	983	c.762C>T	c.(760-762)ctC>ctT	p.L254L	INTS3_uc001fct.3_Silent_p.L254L|INTS3_uc001fcu.3_5'UTR|INTS3_uc001fcv.3_Silent_p.L48L|INTS3_uc010peb.2_Silent_p.L48L|INTS3_uc001fcw.3_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	255					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTCGGGATCTCGTAAGACTAC	0.428000														269			89		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41758775	41758775	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:41758775G>A	uc010ehj.3	+	15	2019	c.1829G>A	c.(1828-1830)cGa>cAa	p.R610Q	AXL_uc010ehk.3_Missense_Mutation_p.R601Q	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	610	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGTTCTGAACGAGAGAGCTTC	0.597000														92			21		0	0	1	0	0
UPK1B	7348	broad.mit.edu	37	3	118909895	118909895	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:118909895G>A	uc003ecc.3	+	4	501	c.412G>A	c.(412-414)Gat>Aat	p.D138N	UPK1B_uc011bix.2_Missense_Mutation_p.D58N|UPK1B_uc003ecd.3_Missense_Mutation_p.D130N	NM_006952	NP_008883	O75841	UPK1B_HUMAN	Homo sapiens uroplakin 1B (UPK1B), mRNA.	138					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		TCCAAACAATGATGACCAGTG	0.478000														255			122		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238045826	238045826	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:238045826G>A	uc001hym.3	-	11	1806	c.1519C>T	c.(1519-1521)Ctg>Ttg	p.L507L	LOC100130331_uc010pyc.2_Non-coding_Transcript	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	507					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)			GCCACCCACAGAACTTTCGAG	0.463000														101			34		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95372892	95372892	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95372892C>T	uc001kiu.4	+	0	548	c.410C>T	c.(409-411)cCa>cTa	p.P137L		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	137	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GTTGTGTTTCCATTGGACATT	0.527000														63			12		0	0	1	0	0
PDK2	5164	broad.mit.edu	37	17	48187418	48187418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48187418C>T	uc002iqc.3	+	10	1342	c.1181C>T	c.(1180-1182)cCc>cTc	p.P394L	PDK2_uc002iqb.3_Missense_Mutation_p.P330L|PDK2_uc021tzx.1_Missense_Mutation_p.P330L	NM_002611	NP_001186828	Q15119	PDK2_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 2 (PDK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	394					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						TGGTGTGTGCCCAGCACGGAG	0.672000									Autosomal Dominant Polycystic Kidney Disease					14			4		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88379651	88379651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:88379651C>T	uc001tam.1	-	10	1270	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	C12orf50_uc001tan.3_Missense_Mutation_p.E383K	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	368										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GGTTTGGGTTCCCTGTTAGCA	0.498000														98			30		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739797	38739797	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38739797G>A	uc003ciq.3	-	26	4914	c.4914C>T	c.(4912-4914)atC>atT	p.I1638I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1638					sensory perception	voltage-gated sodium channel complex		p.G1637A(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACATGTCGTCGATGCCAGCCT	0.552000														125			48		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650650	121650650	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:121650650C>T	uc003vjy.3	+	11	1945	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	PTPRZ1_uc011knt.2_Missense_Mutation_p.S517F|PTPRZ1_uc003vjz.3_Missense_Mutation_p.S517F	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	517					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AAAGATATTTCCTTGACTTCT	0.408000														80			31		0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58604792	58604792	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:58604792C>T	uc010tro.2	-	2	1597	c.1399G>A	c.(1399-1401)Gat>Aat	p.D467N	C14orf37_uc001xdc.3_Missense_Mutation_p.D429N|C14orf37_uc001xdd.3_Missense_Mutation_p.D429N|C14orf37_uc001xde.3_Missense_Mutation_p.D429N	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	429						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AACAGGGCATCGTTTTCCTTG	0.413000														84			16		0	0	1	0	0
GALC	2581	broad.mit.edu	37	14	88429746	88429746	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:88429746G>A	uc001xvt.3	-	9	1250	c.1143C>T	c.(1141-1143)acC>acT	p.T381T	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Silent_p.T358T|GALC_uc010tvx.2_Silent_p.T355T|GALC_uc010tvz.1_Silent_p.T325T|GALC_uc001xvu.2_Silent_p.T381T	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	381					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAATGATGATGGTGAGGTTCC	0.368000														101			32		0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350414	51350414	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51350414C>T	uc001zyy.3	-	2	643	c.543G>A	c.(541-543)cgG>cgA	p.R181R		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	181										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		ACTGGTTGTTCCGGTAGAGGA	0.468000														105			46		0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128186496	128186496	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:128186496G>A	uc002tol.3	+	8	1450	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	PROC_uc002tok.3_Missense_Mutation_p.A454T|PROC_uc010yzi.2_Missense_Mutation_p.A510T|PROC_uc010yzj.2_Missense_Mutation_p.A349T|PROC_uc010yzk.2_Missense_Mutation_p.A509T	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	454					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AGACAAGGAAGCCCCCCAGAA	0.577000														115			10		0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45009750	45009750	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:45009750G>A	uc003tmh.2	-	9	1365	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	MYO1G_uc003tmg.2_Silent_p.F169F|MYO1G_uc010kym.2_Silent_p.F292F|MYO1G_uc003tmi.1_Silent_p.F319F|MYO1G_uc022acj.1_5'Flank|MYO1G_uc003tmj.2_Silent_p.F169F	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	407	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						AGAACTGCTCGAAACTGGGGG	0.547000														16			8		0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94164787	94164787	+	Silent	SNP	C	T	T	rs146953436	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94164787C>T	uc003uni.4	+	7	1022	c.795C>T	c.(793-795)atC>atT	p.I265I	CASD1_uc003unh.2_Intron|CASD1_uc003unj.4_Silent_p.I265I	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	265						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGAAACCATCATGGAATCTT	0.338000														89			30		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32526727	32526728	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:32526727_32526728GG>AA	uc002yow.1	-	17	3480_3481	c.3008_3009CC>TT	c.(3007-3009)gcc>gTT	p.A1003V	TIAM1_uc011adk.1_Missense_Mutation_p.A1003V|TIAM1_uc011adl.1_Missense_Mutation_p.A943V	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1003					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGCAAAATGCGGCCACCTGTTC	0.584000														69			27		0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10876690	10876690	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:10876690C>T	uc003mzn.4	-	2	516	c.444G>A	c.(442-444)gcG>gcA	p.A148A	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	148					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GAAAAAAGATCGCGTTGCCAT	0.498000														47			14		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71892314	71892314	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71892314G>A	uc010fen.3	+	46	5338	c.5197G>A	c.(5197-5199)Gac>Aac	p.D1733N	DYSF_uc010fei.3_Missense_Mutation_p.D1711N|DYSF_uc010feh.3_Missense_Mutation_p.D1701N|DYSF_uc002sig.4_Missense_Mutation_p.D1680N|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.D1725N|DYSF_uc010fee.3_Missense_Mutation_p.D1715N|DYSF_uc010fef.3_Missense_Mutation_p.D1732N|DYSF_uc002sie.3_Missense_Mutation_p.D1694N|DYSF_uc010feo.3_Missense_Mutation_p.D1726N|DYSF_uc010fej.3_Missense_Mutation_p.D1702N|DYSF_uc010fel.3_Missense_Mutation_p.D1681N|DYSF_uc010fem.3_Missense_Mutation_p.D1716N|DYSF_uc002sif.3_Missense_Mutation_p.D1695N|DYSF_uc010fek.3_Missense_Mutation_p.D1712N|DYSF_uc010yqy.2_Missense_Mutation_p.D575N|DYSF_uc010yqz.2_Missense_Mutation_p.D455N	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1694						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCAGTGGCGGGACCAGCTCCG	0.562000														115			67		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122846208	122846208	+	Missense_Mutation	SNP	G	A	A	rs145694364		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:122846208G>A	uc003ieg.2	-	2	1215	c.1141C>T	c.(1141-1143)Cgt>Tgt	p.R381C	TRPC3_uc010inr.2_Missense_Mutation_p.R308C|TRPC3_uc003ief.2_Missense_Mutation_p.R308C|TRPC3_uc011cgl.1_Missense_Mutation_p.R45C	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	296					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AGTTTGACACGACTTAATGAA	0.428000														161			34		0	0	1	0	0
KLK2	3817	broad.mit.edu	37	19	51380010	51380010	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51380010G>A	uc002ptv.3	+	2	530	c.489G>A	c.(487-489)gaG>gaA	p.E163E	KLK2_uc010eog.3_Silent_p.E61E|KLK2_uc010yck.2_Silent_p.E163E|KLK2_uc002ptt.3_Non-coding_Transcript|KLK2_uc010ycl.2_Silent_p.E146E|KLK2_uc010ycm.2_Silent_p.E61E|KLK2_uc002ptu.3_Silent_p.E163E	NM_005551	NP_005542	P20151	KLK2_HUMAN	Homo sapiens kallikrein-related peptidase 2 (KLK2), transcript variant 1, mRNA.	163	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		TCGAACCAGAGGAGTGTACGC	0.642000			T	ETV4	prostate									34			11		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37029580	37029580	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:37029580G>A	uc004ddl.2	+	0	3149	c.3097G>A	c.(3097-3099)Gaa>Aaa	p.E1033K		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	1033										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGATGCATCGGAAGAAGATTA	0.393000														74			19		0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6964814	6964814	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6964814G>A	uc001mey.3	+	5	1242	c.654G>A	c.(652-654)ttG>ttA	p.L218L	ZNF215_uc010raw.2_Nonsense_Mutation_p.W174*|ZNF215_uc010rax.2_Intron|ZNF215_uc001mez.1_Silent_p.L218L	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	218	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GCCTTAAGTTGGAGAGTAAGA	0.343000														120			54		0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78383885	78383885	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:78383885G>A	uc001dic.4	+	4	671	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	NEXN_uc001dia.3_Missense_Mutation_p.R125Q|NEXN_uc009wcb.1_Missense_Mutation_p.R61Q|NEXN_uc001dib.4_Missense_Mutation_p.R61Q|NEXN_uc001did.1_Missense_Mutation_p.R49Q|NEXN_uc001dif.1_Missense_Mutation_p.R17Q	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	125	Glu-rich.				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)		GAGGAGGAACGAAAACGCAGA	0.363000														83			35		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76471399	76471399	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76471399C>T	uc010dhp.2	-	53	8597	c.8472G>A	c.(8470-8472)caG>caA	p.Q2824Q	DNAH17_uc002jvs.3_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGAGGGTGATCTGAAACACGT	0.587000														99			26		0	0	1	0	0
PNMA2	10687	broad.mit.edu	37	8	26365908	26365908	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:26365908G>A	uc022atc.1	-	0	364	c.364C>T	c.(364-366)Cga>Tga	p.R122*	PNMA2_uc003xez.2_Nonsense_Mutation_p.R122*	NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	Homo sapiens paraneoplastic antigen MA2 (PNMA2), mRNA.	122					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		cccagggctcgaaacataccc	0.527000														67			25		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25593852	25593852	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:25593852C>T	uc002kwg.2	-	2	653	c.194G>A	c.(193-195)gGa>gAa	p.G65E	CDH2_uc010xbn.1_Missense_Mutation_p.G34E	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	65					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTTCTTTTTCCATTGCAGTT	0.358000														53			15		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179437688	179437688	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179437688G>A	uc001gmo.3	+	16	2296	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	AXDND1_uc001gmn.2_3'UTR|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.E595K	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	637										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GGAAATAGATGAAAAAATTAA	0.353000														67			29		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520541	33520541	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:33520541G>A	uc002hjd.2	-	0	872	c.786C>T	c.(784-786)ctC>ctT	p.L262L		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	262						integral to membrane											AGACCAAGGCGAGGATCCCCA	0.627000														70			29		0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52269605	52269605	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:52269605G>A	uc001ctc.4	-	21	2720	c.2398C>T	c.(2398-2400)Ctt>Ttt	p.L800F	NRD1_uc009vzb.3_Missense_Mutation_p.L495F|NRD1_uc001cte.3_Missense_Mutation_p.L668F|NRD1_uc001ctd.4_Missense_Mutation_p.L732F|NRD1_uc001ctf.2_Missense_Mutation_p.L732F|NRD1_uc010ong.1_Non-coding_Transcript	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	731					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTATGCGTAAGGATATTGACA	0.383000														47			5		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446723	226446723	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:226446723G>A	uc002voe.2	+	3	765	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	197								p.R197Q(2)									AAACCGAAGCGAAATCCGAAC	0.502000														196			71		0	0	1	0	0
GZMA	3001	broad.mit.edu	37	5	54405889	54405889	+	Missense_Mutation	SNP	G	A	A	rs147876051	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:54405889G>A	uc003jpm.3	+	4	705	c.668G>A	c.(667-669)cGa>cAa	p.R223Q		NM_006144	NP_006135	P12544	GRAA_HUMAN	Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.	223	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GGTGTTTTCCGAGGGGTCACT	0.483000														75			34		0	0	1	0	0
KRTAP19-5	337972	broad.mit.edu	37	21	31874201	31874201	+	Missense_Mutation	SNP	C	T	T	rs73186218	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:31874201C>T	uc011ada.2	-	0	208	c.208G>A	c.(208-210)Gga>Aga	p.G70R		NM_181611	NP_853642	Q3LI72	KR195_HUMAN	Homo sapiens keratin associated protein 19-5 (KRTAP19-5), mRNA.	70						intermediate filament	protein binding			endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CAATAAAATCCAGAGAATCCA	0.502000														124			41		0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106729593	106729593	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:106729593G>A	uc001tln.3	+	6	1123	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.	317										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TCAGAAAAAAGAATTACCAGA	0.388000														64			12		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106124613	106124613	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106124613G>A	uc001kyh.3	+	3	697	c.563G>A	c.(562-564)cGa>cAa	p.R188Q		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	188										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAAACAGAGCGATCAAAAGAG	0.473000														47			25		0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75408420	75408420	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:75408420C>T	uc001jut.4	-	3	1142	c.990G>A	c.(988-990)acG>acA	p.T330T	SYNPO2L_uc001jus.4_Silent_p.T106T	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	330						cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CGGACTCACTCGTGGGGGGAA	0.607000														62			25		0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96076520	96076520	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:96076520C>T	uc001tei.3	-	6	1922	c.1473G>A	c.(1471-1473)tgG>tgA	p.W491*	NTN4_uc009ztf.3_Nonsense_Mutation_p.W491*|NTN4_uc009ztg.3_Nonsense_Mutation_p.W454*	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	491					axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GCGCATCCTCCCACTCCCAGG	0.463000														55			14		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122757604	122757604	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:122757604G>A	uc003vkm.3	-	13	1596	c.1571C>T	c.(1570-1572)tCa>tTa	p.S524L	SLC13A1_uc010lks.3_Missense_Mutation_p.S400L	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	524						integral to membrane|plasma membrane	sodium:sulfate symporter activity	p.S524L(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GAATGCAAATGAAGTACACAG	0.368000														67			30		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160094972	160094972	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160094972C>T	uc001fvc.3	+	6	809	c.677C>T	c.(676-678)tCc>tTc	p.S226F	ATP1A2_uc001fvb.2_Missense_Mutation_p.S226F|ATP1A2_uc010piz.1_Missense_Mutation_p.S71F|ATP1A2_uc001fvd.3_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	226					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAGACCCGCTCCCCCGAGTTC	0.552000														53			27		0	0	1	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144295145	144295145	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144295145G>A	uc003yxu.2	+	0	78	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 (GPIHBP1), mRNA.	1					cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCGGCGAGATGAAGGCGCTCG	0.662000														7			3		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15967683	15967683	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:15967683C>T	uc010lsu.3	-	9	1385	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	MSR1_uc003wwz.3_Missense_Mutation_p.E423K|MSR1_uc003wxa.3_Missense_Mutation_p.E360K	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	423	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATAGATGATTCTCTCCCAAAA	0.373000														85			49		0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43274922	43274922	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43274922G>A	uc002yzq.1	-	11	1500	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	PRDM15_uc002yzo.3_Silent_p.F134F|PRDM15_uc002yzp.3_Silent_p.F134F|PRDM15_uc002yzr.1_Silent_p.F134F	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	463	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGTCCTTCTGGAACACCTGAA	0.612000														29			9		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54395001	54395001	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54395001C>T	uc002qcq.1	+	5	885	c.603C>T	c.(601-603)atC>atT	p.I201I	PRKCG_uc010eqz.1_Silent_p.I201I|PRKCG_uc010yef.1_Silent_p.I201I|PRKCG_uc010yeg.1_Silent_p.I201I|PRKCG_uc010yeh.1_Silent_p.I88I|Mir_324_uc021vbc.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	201	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TGAAGCTCATCCCAGACCCTC	0.527000														118			41		0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111317719	111317719	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:111317719C>T	uc001trv.1	+	5	694	c.499C>T	c.(499-501)Cac>Tac	p.H167Y	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Missense_Mutation_p.H127Y|CCDC63_uc001trw.1_Missense_Mutation_p.H82Y	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	167										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GGTCACTGTTCACTTTGACAA	0.468000														128			44		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28478849	28478849	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:28478849G>A	uc001zbj.3	-	27	4418	c.4312C>T	c.(4312-4314)Cgc>Tgc	p.R1438C		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1438					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AACAACAAGCGACCGACCTCT	0.463000														67			29		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2808585	2808585	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:2808585G>A	uc010ckd.3	+	2	178	c.88G>A	c.(88-90)Gag>Aag	p.E30K	RAP1GAP2_uc010cke.3_Missense_Mutation_p.E30K	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	30					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGGAAGCAGGAGCTGGCCAA	0.592000														17			15		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269704	150269704	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150269704C>T	uc003whl.3	+	2	628	c.546C>T	c.(544-546)ttC>ttT	p.F182F	GIMAP4_uc011kuu.2_Silent_p.F43F|GIMAP4_uc011kuv.2_Silent_p.F196F	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	182							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGACATTTTCGGTGACCGCT	0.512000														92			44		0	0	1	0	0
INSL5	10022	broad.mit.edu	37	1	67263912	67263912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:67263912G>A	uc001dcw.3	-	1	230	c.192C>T	c.(190-192)tcC>tcT	p.S64S		NM_005478	NP_005469	Q9Y5Q6	INSL5_HUMAN	Homo sapiens insulin-like 5 (INSL5), mRNA.	64						extracellular region	hormone activity			breast(2)|endometrium(1)|lung(5)	8						GGAGCTGGAAGGAGTTTCCTG	0.478000														76			19		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76790610	76790610	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:76790610C>T	uc001jwn.1	+	17	6521	c.6028C>T	c.(6028-6030)Cat>Tat	p.H2010Y	KAT6B_uc001jwo.1_Missense_Mutation_p.H1718Y|KAT6B_uc001jwp.1_Missense_Mutation_p.H1827Y	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	2010	Interaction with RUNX1 and RUNX2.|Met-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CCACAGCAATCATGGCTATAT	0.507000														142			11		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50204093	50204093	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50204093C>T	uc010eng.3	+	4	750	c.434C>T	c.(433-435)tCc>tTc	p.S145F	CPT1C_uc002ppl.4_Missense_Mutation_p.S145F|CPT1C_uc002ppi.3_Missense_Mutation_p.S62F|CPT1C_uc002ppk.3_Missense_Mutation_p.S145F|CPT1C_uc010enh.3_Missense_Mutation_p.S145F|CPT1C_uc002ppj.3_Missense_Mutation_p.S145F|CPT1C_uc010ybc.1_Intron	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	145					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCCATGTCCTCCCCCACCAAG	0.622000														109			40		0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63173904	63173904	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:63173904G>A	uc002jfe.3	+	8	840	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	RGS9_uc021ubw.1_Missense_Mutation_p.E213K|RGS9_uc010dem.3_Missense_Mutation_p.E213K|RGS9_uc002jfd.3_Missense_Mutation_p.E213K	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	213					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CAATCCGAATGAAGTCAAGGT	0.493000														67			30		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50376884	50376884	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:50376884G>A	uc004dpe.2	-	3	2215	c.2189C>T	c.(2188-2190)cCa>cTa	p.P730L	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.P614L	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	730					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)					ATTATGCTCTGGAGACCATCT	0.552000														21			3		0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003966	57003966	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57003966C>T	uc001njo.3	-	0	962	c.513G>A	c.(511-513)ggG>ggA	p.G171G	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	171						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TCTCCAAGTCCCCGGTGGTGC	0.647000														45			18		0	0	1	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20077862	20077862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:20077862C>T	uc003wzp.3	+	13	1699	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	ATP6V1B2_uc003wzq.1_Non-coding_Transcript	NM_001693	NP_001684	P21281	VATB2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2), mRNA.	495					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytosol|endomembrane system|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		TGAAGAGAATCCCTCAGAGCA	0.463000														103			26		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11651035	11651035	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11651035G>A	uc002gne.3	+	31	6630	c.6562G>A	c.(6562-6564)Gat>Aat	p.D2188N	DNAH9_uc010coo.3_Missense_Mutation_p.D1482N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2188	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTCACAAATGATGAGCTCTT	0.522000														38			21		0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102290667	102290667	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:102290667C>T	uc001duf.2	-	3	638	c.567G>A	c.(565-567)gaG>gaA	p.E189E	OLFM3_uc001dug.2_Silent_p.E169E|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Silent_p.E94E|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	189						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CACCAATTTCCTCCTGAATAC	0.438000														52			9		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6712527	6712527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6712527C>T	uc002mfm.3	-	9	1173	c.1111G>A	c.(1111-1113)Gac>Aac	p.D371N		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	371					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACCATGAGGTCAAAGGGCATT	0.632000														144			30		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51261233	51261233	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:51261233G>A	uc003tps.3	-	2	484	c.299C>T	c.(298-300)cCa>cTa	p.P100L	COBL_uc003tpr.4_Missense_Mutation_p.P100L|COBL_uc011kcl.2_Missense_Mutation_p.P100L|COBL_uc010kzc.3_Missense_Mutation_p.P100L|COBL_uc003tpt.3_Missense_Mutation_p.P100L|COBL_uc003tpp.4_5'Flank|COBL_uc003tpq.4_Missense_Mutation_p.P16L	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	100								p.P100T(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ATGGTGGGATGGATTCAGGTG	0.418000														83			7		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62758479	62758479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:62758479G>A	uc010ihh.3	+	6	1555	c.1382G>A	c.(1381-1383)gGa>gAa	p.G461E	LPHN3_uc003hcq.4_Missense_Mutation_p.G461E|LPHN3_uc003hcs.1_Missense_Mutation_p.G290E	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	461					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCAGTGTCAGGAAGAAGAAAC	0.542000														70			26		0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756928	248756928	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248756928G>A	uc010pzn.2	-	0	142	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			ATGTGGATCAGAAGTATCAAT	0.418000														80			29		0	0	1	0	0
C1orf141	400757	broad.mit.edu	37	1	67561082	67561082	+	Missense_Mutation	SNP	C	T	T	rs145496311		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:67561082C>T	uc001ddl.1	-	5	550	c.439G>A	c.(439-441)Gat>Aat	p.D147N	C1orf141_uc001ddm.1_Missense_Mutation_p.D147N|C1orf141_uc001ddn.1_Intron	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.	147										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						ATATTAAAATCGTTCATCTGT	0.363000														25			5		0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98460836	98460836	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:98460836G>A	uc003upo.3	-	1	462	c.273C>T	c.(271-273)tcC>tcT	p.S91S	TMEM130_uc011kiq.2_Silent_p.S72S|TMEM130_uc011kir.2_Silent_p.S91S|TMEM130_uc003upn.3_Intron	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	91						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CACGGATGGTGGAGCTGAGAC	0.657000														63			8		0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17157559	17157559	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:17157559C>T	uc003wxm.3	-	13	2034	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	MTMR7_uc011kya.2_Missense_Mutation_p.E233K|MTMR7_uc011kyb.2_Missense_Mutation_p.E190K	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	599							protein tyrosine phosphatase activity	p.D598N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GCAGAATCTTCATCGCCTTGT	0.483000														125			9		0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050173	84050173	+	Silent	SNP	G	A	A	rs113073498	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84050173G>A	uc002fhg.1	-	7	1113	c.1113C>T	c.(1111-1113)atC>atT	p.I371I		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	371					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGATGCTGACGATCTCGCTGA	0.592000														61			16		0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8146431	8146431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:8146431G>A	uc002gkq.4	-	1	128	c.69C>T	c.(67-69)atC>atT	p.I23I	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	23					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGGTCTTTTGGATGAAGACCT	0.473000														22			15		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129276034	129276034	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:129276034C>T	uc003emx.2	-	33	5578	c.5478G>A	c.(5476-5478)aaG>aaA	p.K1826K	PLXND1_uc003emw.2_5'UTR|PLXND1_uc011blb.1_Silent_p.K495K	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1826					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CAGGAATCTCCTTGGCGTAGA	0.557000														74			25		0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1742181	1742181	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:1742181G>A	uc004cqd.3	+	2	435	c.219G>A	c.(217-219)ctG>ctA	p.L73L	ASMT_uc010ncy.3_Silent_p.L73L|ASMT_uc004cqe.3_Silent_p.L73L	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	73					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGAAGCTGCTGAAAGTGGAGA	0.592000														37			10		0	0	1	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021110	142021110	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142021110G>A	uc011krr.1	+	1	275	c.90G>A	c.(88-90)ctG>ctA	p.L30L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Silent_p.L30L					SubName: Full=V_segment translation product; Flags: Fragment;																		CAAGATATCTGATCAAAACGA	0.547000														40			12		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228137704	228137704	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228137704G>A	uc002vom.2	+	25	1960	c.1798G>A	c.(1798-1800)Gat>Aat	p.D600N	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	600	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TCCTCCAGGGGATCCTGGCTC	0.567000														58			22		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23899062	23899062	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23899062C>T	uc001wjx.3	-	11	1166	c.1060G>A	c.(1060-1062)Ggc>Agc	p.G354S		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	354	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G354G(2)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATGATGGCGCCTGTCAGCTTA	0.537000														102			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179395723	179395723	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179395723C>T	uc021vsy.1	-	306	98140	c.97915G>A	c.(97915-97917)Gaa>Aaa	p.E32639K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E26334K|TTN_uc021vta.1_Missense_Mutation_p.E26267K|TTN_uc021vtb.1_Missense_Mutation_p.E26142K|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33566	Ig-like 144.						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)			TGTTTCCCTTCACTGTTTTCT	0.488000														291			131		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48556366	48556366	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:48556366C>T	uc003toq.2	+	51	13710	c.13686C>T	c.(13684-13686)tcC>tcT	p.S4562S	ABCA13_uc010kys.1_Silent_p.S1637S|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.S292S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4562					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAATCTTTTCCAGTTCGGACG	0.388000														173			59		0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30686936	30686936	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30686936C>T	uc002wxh.3	+	11	1613	c.1376C>T	c.(1375-1377)cCa>cTa	p.P459L	HCK_uc010gdy.3_Missense_Mutation_p.P439L|HCK_uc021wbv.1_Missense_Mutation_p.P438L|HCK_uc002wxi.3_Missense_Mutation_p.P437L	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	459	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATCCCTTACCCAGGTAGGGAA	0.542000														112			37		0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66829101	66829101	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:66829101C>T	uc001dcn.3	+	11	1322	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L	PDE4B_uc009war.3_Silent_p.L285L|PDE4B_uc001dco.3_Silent_p.L377L|PDE4B_uc001dcp.3_Silent_p.L362L|PDE4B_uc001dcq.3_Silent_p.L205L|PDE4B_uc009was.3_Silent_p.L144L	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	377					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	AAAGAGACCTCCTAAAGACAT	0.353000														49			16		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57136731	57136731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:57136731C>T	uc002lib.3	-	3	444	c.374G>A	c.(373-375)cGg>cAg	p.R125Q		NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	125					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CTCCCGCTTCCGGTGTCTCTC	0.537000														136			26		0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204129793	204129793	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:204129793G>A	uc001haq.2	-	3	431	c.387C>T	c.(385-387)ctC>ctT	p.L129L		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	129					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AAGCATCGAAGAGCTTGTGAT	0.552000														93			31		0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169690823	169690824	+	Nonsense_Mutation	DNP	GG	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169690823_169690824GG>AT	uc002ueg.3	+	6	758_759	c.492_493GG>AT	c.(490-495)aaggag>aaATag	p.E165*	NOSTRIN_uc002uef.3_Nonsense_Mutation_p.E165*|NOSTRIN_uc002ueh.3_Nonsense_Mutation_p.E87*|NOSTRIN_uc010fpu.3_Nonsense_Mutation_p.E137*	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	165					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TGACTGAGAAGGAGAAGCGGAA	0.460000														56			14		0	0	1	0	0
HMGB4	127540	broad.mit.edu	37	1	34329958	34329958	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34329958G>A	uc021oky.1	+	0	166	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.E56K|HMGB4_uc001bxq.3_5'UTR	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	56						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTCAAAGCATGAAAAGGCCAA	0.423000														109			48		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48416519	48416519	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48416519G>A	uc001jfa.1	-	0	335	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	59					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						ACGTTCTCCAGAAACATCTTC	0.607000														55			6		0	0	1	0	0
KLRD1	3824	broad.mit.edu	37	12	10462275	10462275	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10462275G>A	uc009zhi.3	+	2	411	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	KLRD1_uc001qxw.4_Missense_Mutation_p.E51K|KLRD1_uc001qxx.4_Missense_Mutation_p.E51K|KLRD1_uc001qxy.4_Missense_Mutation_p.E20K|KLRD1_uc009zhh.3_Intron|KLRD1_uc001qxz.4_Missense_Mutation_p.E51K			Q13241	KLRD1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily D, member 1 (KLRD1), transcript variant 1, mRNA.	51					cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						ACCCAACATAGAACTCCAGAA	0.333000														39			5		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240374523	240374523	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240374523G>A	uc010pye.2	+	6	4290	c.4065G>A	c.(4063-4065)acG>acA	p.T1355T	FMN2_uc010pyd.2_Silent_p.T1351T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1351	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCTCAAAGACGAAGGCTAAAC	0.338000														109			40		0	0	1	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130674663	130674663	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:130674663G>A	uc004bss.3	-	3	771	c.495C>T	c.(493-495)acC>acT	p.T165T	ST6GALNAC4_uc004bst.3_Silent_p.T81T	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.	165					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GCGTGCGGTAGGTGCGGCCGC	0.632000														62			22		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36216190	36216190	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:36216190C>T	uc021usv.1	+	10	3598	c.3598C>T	c.(3598-3600)Ccc>Tcc	p.P1200S	MLL2_uc021usu.1_Missense_Mutation_p.P14S	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	0					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCCAGGGGGCCCCCCGATGGT	0.597000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				20			11		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617990	37617990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:37617990C>T	uc002yvg.3	+	18	3791	c.3712C>T	c.(3712-3714)Cgg>Tgg	p.R1238W	DOPEY2_uc011aeb.2_Missense_Mutation_p.R1187W|DOPEY2_uc002yvh.3_Missense_Mutation_p.R89W	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1238					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						CTACGACTCTCGGCGGGTCCT	0.582000														38			19		0	0	1	0	0
SIRT5	23408	broad.mit.edu	37	6	13584380	13584380	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:13584380C>T	uc003nay.3	+	2	350	c.38C>T	c.(37-39)tCc>tTc	p.S13F	SIRT5_uc003naw.3_Missense_Mutation_p.S13F|SIRT5_uc003nax.3_5'UTR|SIRT5_uc011dit.2_Missense_Mutation_p.S13F	NM_012241	NP_001229756	Q9NXA8	SIRT5_HUMAN	Homo sapiens sirtuin 5 (SIRT5), transcript variant 1, mRNA.	13					chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	CGATTGATTTCCCAGCTATAT	0.453000														103			45		0	0	1	0	0
FCGR2B	2213	broad.mit.edu	37	1	161641278	161641278	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161641278C>T	uc001gaz.2	+	2	357	c.230C>T	c.(229-231)cCt>cTt	p.P77L	FCGR2B_uc009wum.2_Missense_Mutation_p.P77L|FCGR2B_uc001gay.2_Missense_Mutation_p.P76L|FCGR2B_uc001gba.2_Missense_Mutation_p.P76L|FCGR2B_uc009wun.2_Missense_Mutation_p.P70L|FCGR2B_uc001gbb.2_Missense_Mutation_p.P77L	NM_004001	NP_003992	P31994	FCG2B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIb, receptor (CD32) (FCGR2B), transcript variant 1, mRNA.	77	Ig-like C2-type 1.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		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)	ACTCACAGCCCTGAGAGCGAC	0.582000			T	?	ALL									77			18		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201035010	201035010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201035010G>A	uc001gvv.3	-	21	3036	c.2809C>T	c.(2809-2811)Ctc>Ttc	p.L937F		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	937					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AACTGTAGGAGGGTAGTGACC	0.647000														24			10		0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124810341	124810341	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124810341C>T	uc003ehw.4	-	11	2020	c.1950G>A	c.(1948-1950)atG>atA	p.M650I	SLC12A8_uc003ehv.4_Missense_Mutation_p.M621I|SLC12A8_uc003eht.4_Missense_Mutation_p.M422I|SLC12A8_uc010hry.3_Intron	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	621					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						CAGCAACACCCATGTTAACCA	0.493000														59			12		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700713	136700713	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:136700713G>A	uc003vtf.1	+	3	1724	c.1101G>A	c.(1099-1101)aaG>aaA	p.K367K	CHRM2_uc003vtg.1_Silent_p.K367K|CHRM2_uc003vti.1_Silent_p.K367K|CHRM2_uc003vtm.1_Silent_p.K367K|CHRM2_uc003vtj.1_Silent_p.K367K|CHRM2_uc003vtk.1_Silent_p.K367K|CHRM2_uc003vtl.1_Silent_p.K367K|CHRM2_uc003vtn.1_Silent_p.K367K|CHRM2_uc003vto.1_Silent_p.K367K|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.K367K	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	367					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AGATTGTGAAGATGACTAAGC	0.473000														58			33		0	0	1	0	0
VRK3	51231	broad.mit.edu	37	19	50511003	50511003	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50511003G>A	uc002prg.2	-	4	468	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	VRK3_uc002prh.1_Nonsense_Mutation_p.Q124*|VRK3_uc002pri.1_Nonsense_Mutation_p.Q74*|VRK3_uc010ens.2_Nonsense_Mutation_p.Q124*|VRK3_uc010ybl.1_Nonsense_Mutation_p.Q74*|VRK3_uc010ybm.1_5'UTR|VRK3_uc002prk.2_Nonsense_Mutation_p.Q124*|VRK3_uc010ent.2_5'UTR|VRK3_uc002prl.3_Nonsense_Mutation_p.Q124*|VRK3_uc010ybn.1_Nonsense_Mutation_p.Q124*	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	Homo sapiens vaccinia related kinase 3 (VRK3), transcript variant 1, mRNA.	124						nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CTGGTCTTCTGAGGGCTACCC	0.602000														121			34		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2436319	2436319	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:2436319C>T	uc001aji.1	+	21	4189	c.3915C>T	c.(3913-3915)ctC>ctT	p.L1305L	PLCH2_uc010nyz.2_3'UTR|PLCH2_uc009vle.1_Silent_p.L1058L|PLCH2_uc001ajj.1_3'UTR|PLCH2_uc001ajk.1_3'UTR|PLCH2_uc001ajl.1_Silent_p.L158L	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	1306					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			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)		TGCGCTGGCTCACTGTCTTCC	0.711000														9			7		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44087626	44087626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44087626C>T	uc001cjr.3	+	33	6016	c.5676C>T	c.(5674-5676)taC>taT	p.Y1892Y	PTPRF_uc001cjs.3_Silent_p.Y1883Y|PTPRF_uc001cju.3_Silent_p.Y1281Y|PTPRF_uc009vwt.3_Silent_p.Y1452Y|PTPRF_uc001cjv.3_Silent_p.Y1363Y|PTPRF_uc001cjw.3_Silent_p.Y1118Y	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1892	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCTGTGCTACCGTGCGGCCC	0.652000														81			30		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55955503	55955503	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:55955503C>T	uc010qhy.1	-	11	1655	c.1260G>A	c.(1258-1260)tcG>tcA	p.S420S	PCDH15_uc010qhq.2_Silent_p.S420S|PCDH15_uc010qhr.2_Silent_p.S415S|PCDH15_uc021pqv.1_Silent_p.S415S|PCDH15_uc021pqw.1_Silent_p.S420S|PCDH15_uc010qht.2_Silent_p.S415S|PCDH15_uc021pqx.1_Silent_p.S415S|PCDH15_uc001jjv.1_Silent_p.S393S|PCDH15_uc021pqy.1_Silent_p.S415S|PCDH15_uc021pqz.1_Silent_p.S393S|PCDH15_uc010qhv.1_Silent_p.S415S|PCDH15_uc010qhw.1_Silent_p.S378S|PCDH15_uc010qhx.1_Silent_p.S415S|PCDH15_uc010qhz.1_Silent_p.S415S|PCDH15_uc010qia.1_Silent_p.S393S|PCDH15_uc001jju.1_Silent_p.S415S|PCDH15_uc010qib.1_Silent_p.S393S|PCDH15_uc001jjw.3_Silent_p.S415S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	415	Cadherin 4.				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)				TGAGACTGTCCGAAATGGTTG	0.368000										HNSCC(58;0.16)				77			31		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95132727	95132727	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95132727G>A	uc001kin.3	-	23	2540	c.2417C>T	c.(2416-2418)tCt>tTt	p.S806F	MYOF_uc001kio.3_Missense_Mutation_p.S793F|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	806					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTATTTTCCAGATGCATTCTC	0.453000														134			10		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531760	50531760	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50531760G>A	uc021pqb.1	+	0	1170	c.1170G>A	c.(1168-1170)ggG>ggA	p.G390G	C10orf71_uc021pqa.1_Silent_p.G389G|C10orf71_uc021pqc.1_Silent_p.G390G	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	390										endometrium(1)	1						GCAAAAAAGGGAAAGAAAGTC	0.463000														85			28		0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135487632	135487632	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135487632G>A	uc004cbq.1	-	18	2303	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	DDX31_uc010mzu.1_Silent_p.S644S	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	717						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CTTGGATGAAGGACTGCAGAG	0.562000														54			9		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150696415	150696415	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150696415G>A	uc003wif.3	+	8	1390	c.1094G>A	c.(1093-1095)aGg>aAg	p.R365K	NOS3_uc011kuy.2_Missense_Mutation_p.R159K|NOS3_uc011kva.2_Missense_Mutation_p.R365K|NOS3_uc011kuz.2_Missense_Mutation_p.R365K|NOS3_uc011kvb.2_Missense_Mutation_p.R365K	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	365	Interaction with NOSIP.				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	p.T364T(1)		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)	ATCGGCACGAGGAACCTGTGT	0.627000														158			41		0	0	1	0	0
FANCG	2189	broad.mit.edu	37	9	35079515	35079515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35079515G>A	uc003zwb.1	-	0	499	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.R3C	NM_004629	NP_004620	O15287	FANCG_HUMAN	Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.	3					DNA repair|cell cycle checkpoint|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTGGTCTGGCGGGACATGGTG	0.662000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks						101			19		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29142037	29142037	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29142037C>T	uc011dlm.2	+	0	727	c.625C>T	c.(625-627)Ctc>Ttc	p.L209F		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	209					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						CATTTTTGTTCTCATACCTCT	0.468000														114			34		0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109103252	109103252	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:109103252C>T	uc003kou.1	+	5	1815	c.852C>T	c.(850-852)tcC>tcT	p.S284S		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	284					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.S284S(2)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AACCTCGGTCCGGCTGGGCTA	0.388000														92			51		0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128445896	128445896	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:128445896G>A	uc003vnv.2	+	6	1446	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	CCDC136_uc003vnu.2_Missense_Mutation_p.E382K|CCDC136_uc003vnx.2_Missense_Mutation_p.E160K|CCDC136_uc010llq.2_5'UTR|CCDC136_uc003vny.2_5'Flank	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	344						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GCTGCAGAGGGAGCTCAAGTG	0.562000														28			15		0	0	1	0	0
SQLE	6713	broad.mit.edu	37	8	126015634	126015634	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:126015634G>A	uc011liq.2	+	1	1434	c.508G>A	c.(508-510)Ggt>Agt	p.G170S		NM_003129	NP_003120	Q14534	ERG1_HUMAN	Homo sapiens squalene epoxidase (SQLE), mRNA.	170					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	p.P169P(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	CCTGCAGCCGGGTGGTTATCA	0.443000														225			50		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901192	51901192	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:51901192C>T	uc002iua.2	+	0	954	c.798C>T	c.(796-798)ttC>ttT	p.F266F	KIF2B_uc010wna.1_Intron	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	266	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTTCTGCTTCGACCATGCCT	0.557000														69			5		0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435776	5435776	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:5435776G>A	uc001ihy.3	-	3	1083	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*	TUBAL3_uc001ihz.3_Nonsense_Mutation_p.Q309*	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	349					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TCTACAAACTGAACAGAGTGC	0.567000														40			23		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22922660	22922660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22922660G>A	uc001bfx.1	+	8	1884	c.1759G>A	c.(1759-1761)Gga>Aga	p.G587R		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	587						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTATCAGAATGGACAGGGTGA	0.652000														39			10		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10464881	10464881	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10464881C>T	uc003wtc.3	-	3	6956	c.6727G>A	c.(6727-6729)Gga>Aga	p.G2243R		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2243					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)		TGAGTTTCTCCTTCTGACTCT	0.602000														146			45		0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084214	31084214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31084214G>A	uc003nsm.2	-	1	1234	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	393	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						AGAACTGGAGGGAGAGCAGGG	0.642000														7			7		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345295	20345295	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20345295G>A	uc001vwh.1	+	0	869	c.869G>A	c.(868-870)aGg>aAg	p.R290K		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATACTTTGAGGAATCAAGAA	0.358000														60			20		0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275126	29275126	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29275126C>T	uc011dln.2	+	0	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TTCGCATCTTCTCTACAGTGC	0.468000														160			51		0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111394212	111394212	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:111394212C>T	uc003dya.3	+	0	690	c.120C>T	c.(118-120)ccC>ccT	p.P40P	PLCXD2_uc003dxz.3_Silent_p.P40P	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	40					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCTCGCTCCCCCCTCACCTCC	0.542000														105			35		0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160849133	160849133	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160849133C>T	uc001fxc.3	-	6	873	c.757G>A	c.(757-759)Gga>Aga	p.G253R		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	253	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACCCTCATTCCAGCACACAAG	0.502000														85			35		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176008478	176008478	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176008478G>A	uc021yie.1	+	16	2227	c.1953G>A	c.(1951-1953)gaG>gaA	p.E651E	CDHR2_uc003mem.2_Silent_p.E651E|CDHR2_uc003men.1_Silent_p.E651E	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	651	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGGACAGAGAGGCCATCGACC	0.622000														50			18		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121708823	121708823	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:121708823C>T	uc010flp.3	+	2	289	c.259C>T	c.(259-261)Cct>Tct	p.P87S	GLI2_uc010yyu.1_Missense_Mutation_p.P87S|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Missense_Mutation_p.P87S	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	87					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P86H(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTGCAGGCCCCCTGCCCTCAG	0.632000														236			36		0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72363848	72363848	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72363848C>T	uc021ucp.1	+	0	204	c.195C>T	c.(193-195)ctC>ctT	p.L65L	GPR142_uc010wqy.2_Silent_p.L68L	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	68						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GCTGGGACCTCCGAATAAGGC	0.552000														34			7		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55195914	55195914	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:55195914G>A	uc003jql.3	+	7	1215	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	IL31RA_uc003jqk.3_Silent_p.G341G|IL31RA_uc011cqj.2_Silent_p.G199G|IL31RA_uc003jqm.3_Silent_p.G322G|IL31RA_uc003jqn.3_Silent_p.G341G|IL31RA_uc010iwa.1_Silent_p.G309G|IL31RA_uc021xyq.1_Silent_p.G322G|IL31RA_uc003jqo.3_Silent_p.G199G	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	309	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)				ATTCTCTTGGGAAGTCTCCAG	0.453000														194			20		0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46143848	46143848	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:46143848G>A	uc001jcp.4	-	4	705	c.463C>T	c.(463-465)Cct>Tct	p.P155S	ZFAND4_uc001jcl.4_5'UTR|ZFAND4_uc001jcm.4_Missense_Mutation_p.P155S|ZFAND4_uc009xmu.3_Missense_Mutation_p.P81S|ZFAND4_uc001jcn.4_Missense_Mutation_p.P81S|ZFAND4_uc001jco.4_Missense_Mutation_p.P155S|ZFAND4_uc001jcq.2_Non-coding_Transcript	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	155							zinc ion binding										TCTACTGCAGGAAAGAAATTC	0.413000														162			20		0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207108834	207108834	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207108834C>T	uc001hez.3	-	4	1559	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	PIGR_uc009xbz.3_Missense_Mutation_p.E459K	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	459						extracellular region|integral to plasma membrane	protein binding	p.E459K(2)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTCCTACCTTCGATAATCTTG	0.567000											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		78			44		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35709136	35709136	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35709136C>T	uc003jjo.3	+	18	2863	c.2752C>T	c.(2752-2754)Cct>Tct	p.P918S	SPEF2_uc003jjq.4_Missense_Mutation_p.P913S|SPEF2_uc003jjp.1_Missense_Mutation_p.P404S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	918					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCTCCTGCTCCTCCTCCTGA	0.433000														85			27		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49006253	49006253	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49006253C>T	uc002pjk.3	-	7	645	c.645_splice	c.e7-1	p.R215_splice		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCTGCAGGCTCCTGTGGAGTG	0.587000														28			4		0	0	1	0	0
EHF	26298	broad.mit.edu	37	11	34680082	34680082	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:34680082C>T	uc021qfu.1	+	7	802	c.676C>T	c.(676-678)Ccg>Tcg	p.P226S	EHF_uc001mvr.2_Missense_Mutation_p.P204S|EHF_uc009yke.2_Missense_Mutation_p.P181S|EHF_uc009ykf.2_Missense_Mutation_p.P207S	NM_001206616	NP_001193545	Q9NZC4	EHF_HUMAN	Homo sapiens ets homologous factor (EHF), transcript variant 1, mRNA.	204					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			TTCATCAGACCCGAGAGGGAC	0.463000														49			29		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179486330	179486330	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179486330C>T	uc021vsy.1	-	193	37742	c.37517G>A	c.(37516-37518)gGa>gAa	p.G12506E	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G6201E|TTN_uc021vta.1_Missense_Mutation_p.G6134E|TTN_uc021vtb.1_Missense_Mutation_p.G6009E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13433	Ig-like 83.						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)			TTCATATCTTCCTGTTTCAAT	0.443000														72			33		0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100510857	100510857	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:100510857G>A	uc011cej.2	+	3	545	c.532G>A	c.(532-534)Ggt>Agt	p.G178S	MTTP_uc003hvc.4_Missense_Mutation_p.G151S	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	151	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TATCAAGAGAGGTCTGGCTAG	0.403000														55			13		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815176	106815176	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:106815176G>A	uc003ymd.3	+	7	2889	c.2866G>A	c.(2866-2868)Gaa>Aaa	p.E956K	ZFPM2_uc011lhs.2_Missense_Mutation_p.E687K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	956					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGCTACAAAAGAAGAAAACAG	0.443000														21			5		0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847181	7847181	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7847181G>A	uc010rbg.2	-	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGCCAGCAGGAAGCACTCGG	0.547000														111			38		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19566125	19566125	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:19566125C>T	uc002wrl.3	+	5	746	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	183						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTGGCACCATCGTGGGCTCAG	0.542000														183			22		0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677770	37677770	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:37677770G>A	uc002ofq.3	-	4	921	c.669C>T	c.(667-669)ttC>ttT	p.F223F	ZNF585B_uc002ofr.1_Silent_p.F37F	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	223					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)			AGTTATAAGGGAAACCTTTCC	0.388000														100			48		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7170372	7170372	+	Splice_Site	SNP	G	A	A	rs112283405		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7170372G>A	uc001qsj.3	+	7	1110	c.391_splice	c.e7+1	p.D131_splice	C1S_uc001qsk.3_Splice_Site_p.D131_splice|C1S_uc001qsl.3_Splice_Site_p.D131_splice|C1S_uc009zfr.3_Splice_Site|C1S_uc009zfs.3_Splice_Site	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	131	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GTTGCCACAGGTAAGGCTCAC	0.423000														59			23		0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4798696	4798696	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:4798696C>T	uc003snc.1	+	5	1269	c.1259C>T	c.(1258-1260)tCg>tTg	p.S420L	FOXK1_uc003sna.1_Missense_Mutation_p.S257L	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	420					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|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			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GCTCCAGCTTCGCCCACACAC	0.682000														80			37		0	0	1	0	0
ART3	419	broad.mit.edu	37	4	77003470	77003470	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77003470C>T	uc003hjo.3	+	2	697	c.563C>T	c.(562-564)tCa>tTa	p.S188L	ART3_uc003hji.3_Missense_Mutation_p.S188L|ART3_uc003hjj.3_Missense_Mutation_p.S188L|ART3_uc003hjk.3_Missense_Mutation_p.S188L|ART3_uc010ija.2_Missense_Mutation_p.S188L|ART3_uc003hjn.3_Missense_Mutation_p.S188L|ART3_uc003hjp.3_Intron|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Missense_Mutation_p.S158L|ART3_uc010ijc.3_Missense_Mutation_p.S158L|ART3_uc010ijd.3_Missense_Mutation_p.S158L	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA.	188					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	p.S188S(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGGCATATTCAGCCAAACCT	0.423000														25			15		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54914862	54914862	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:54914862C>T	uc003dhf.3	+	20	1932	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.F534F|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.F362F|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	628						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GGAAATATTTCTTCCGAGGGA	0.483000														239			94		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367424	234367424	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:234367424C>T	uc001hvy.1	+	2	690	c.545C>T	c.(544-546)cCg>cTg	p.P182L	SLC35F3_uc001hwa.1_Missense_Mutation_p.P113L	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	113					transport	integral to membrane		p.P182Q(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TTATTCTTCCCGTTGTACTAC	0.592000														195			10		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55219018	55219018	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:55219018G>A	uc003tqk.3	+	4	837	c.591G>A	c.(589-591)ggG>ggA	p.G197G	EGFR_uc003tqh.3_Silent_p.G197G|EGFR_uc003tqi.3_Silent_p.G197G|EGFR_uc003tqj.3_Silent_p.G197G|EGFR_uc022adm.1_Silent_p.G197G|EGFR_uc010kzg.2_Silent_p.G152G|EGFR_uc022adn.1_Silent_p.G152G|EGFR_uc011kco.2_Silent_p.G144G|EGFR_uc003tql.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	197					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTCCCAATGGGAGCTGCTGGG	0.502000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				119			23		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41452225	41452225	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41452225C>T	uc002yyq.1	-	24	4726	c.4274G>A	c.(4273-4275)gGg>gAg	p.G1425E	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1425	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGAAAACTCCCCCACTGCTC	0.473000														56			12		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16276673	16276673	+	Silent	SNP	G	A	A	rs57866002		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:16276673G>A	uc002den.4	-	15	2095	c.2058C>T	c.(2056-2058)ttC>ttT	p.F686F	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	686	ABC transporter 1.				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)		CGATGCTCACGAACCCCTCCA	0.652000														49			18		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51795149	51795149	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51795149G>A	uc010ufy.2	-	16	3071	c.2846C>T	c.(2845-2847)tCt>tTt	p.S949F	DMXL2_uc002abf.3_Missense_Mutation_p.S949F|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	949						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CACACTAGGAGAGGTTTCTGG	0.418000														125			23		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76397896	76397896	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:76397896C>T	uc021rkq.1	+	14	3171	c.2836C>T	c.(2836-2838)Caa>Taa	p.Q946*	LMO7_uc010thv.2_Nonsense_Mutation_p.Q664*|LMO7_uc001vjt.1_Nonsense_Mutation_p.Q612*|LMO7_uc001vjv.3_Nonsense_Mutation_p.Q713*|LMO7_uc010thw.2_Nonsense_Mutation_p.Q563*|LMO7_uc001vjw.1_Nonsense_Mutation_p.Q619*	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	998						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.Q713K(1)|p.Q664K(1)|p.Q998K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATCTCTTTCCCAAGACCAGGC	0.478000														59			25		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35874645	35874645	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35874645G>A	uc003jjs.3	+	6	889	c.800_splice	c.e6+1	p.R267_splice	IL7R_uc011coo.2_Intron|IL7R_uc011cop.2_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	267					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GGAAAAAAAGGTGACCTTCTT	0.428000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							84			26		0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100330033	100330034	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:100330033_100330034CT>TC	uc001dsi.1	+	4	952_953	c.552_553CT>TC	c.(550-555)gacttt>gaTCtt	p.F185L	AGL_uc001dsj.1_Missense_Mutation_p.F185L|AGL_uc001dsk.1_Missense_Mutation_p.F185L|AGL_uc001dsl.1_Missense_Mutation_p.F185L|AGL_uc001dsm.1_Missense_Mutation_p.F169L|AGL_uc001dsn.1_Missense_Mutation_p.F168L	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	185					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TAAATCCTGACTTTTCAAGACC	0.366000														115			28		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73617662	73617662	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:73617662C>T	uc002avp.3	-	4	2708	c.1714G>A	c.(1714-1716)Gag>Aag	p.E572K		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	572					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TCGCTTAGCTCGCCCAGGATG	0.677000														79			22		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28883029	28883029	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:28883029C>T	uc001usb.3	-	27	3956	c.3671G>A	c.(3670-3672)aGa>aAa	p.R1224K	FLT1_uc010aap.2_Missense_Mutation_p.R229K|FLT1_uc010aaq.2_Missense_Mutation_p.R349K|FLT1_uc001usa.3_Missense_Mutation_p.R442K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1224					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.E1223K(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GGTTTTGATTCTTTCCAGGCT	0.408000														64			35		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31302255	31302255	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:31302255G>A	uc003jhe.2	+	5	1209	c.849G>A	c.(847-849)ccG>ccA	p.P283P	CDH6_uc003jhd.2_Silent_p.P283P	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	283	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTTCTCCACCGGGGACACCAA	0.423000														39			14		0	0	1	0	0
RNASE3	6037	broad.mit.edu	37	14	21359980	21359980	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21359980G>A	uc021roq.1	+	0	135	c.135G>A	c.(133-135)ctG>ctA	p.L45L	RNASE3_uc001vyj.3_Silent_p.L45L	NM_002935	NP_002926	P12724	ECP_HUMAN	Homo sapiens ribonuclease, RNase A family, 3 (RNASE3), mRNA.	45					RNA catabolic process|defense response to bacterium	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity	p.L45V(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	ACATCAGTCTGAACCCCCCTC	0.488000														118			49		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23776524	23776524	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:23776524G>A	uc003sws.4	+	8	910	c.843_splice	c.e8-1	p.K281_splice	STK31_uc003swt.4_Splice_Site_p.K258_splice|STK31_uc011jze.2_Splice_Site_p.K281_splice|STK31_uc010kuq.3_Splice_Site_p.K258_splice	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	281							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTTTATAGGGAAAGTTTGGC	0.323000														48			16		0	0	1	0	0
CD80	941	broad.mit.edu	37	3	119263605	119263605	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:119263605C>T	uc003ecq.3	-	2	605	c.210G>A	c.(208-210)aaG>aaA	p.K70K	CD80_uc010hqt.1_Silent_p.K70K|CD80_uc010hqu.1_Silent_p.K70K|CD80_uc003ecr.1_Silent_p.K70K	NM_005191	NP_005182	P33681	CD80_HUMAN	Homo sapiens CD80 molecule (CD80), mRNA.	70	Ig-like V-type.				T cell costimulation|interspecies interaction between organisms|intracellular signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of transcription, DNA-dependent	intracellular	coreceptor activity|protein binding	p.K70N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	GCACCATTTTCTTCTCCTTTT	0.458000														86			24		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35801080	35801080	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:35801080C>T	uc003zyd.3	+	6	1365	c.1365C>T	c.(1363-1365)acC>acT	p.T455T	NPR2_uc010mlb.3_Silent_p.T455T	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	455					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CACTTTCAACCCTGGCAATTG	0.507000														144			51		0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46916019	46916020	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46916019_46916020CC>TT	uc002pep.3	-	0	900_901	c.48_49GG>AA	c.(46-51)gaggtc>gaAAtc	p.V17I		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	17						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		gccagcctgacctcccggggga	0.604000														59			8		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202287288	202287288	+	Silent	SNP	C	T	T	rs148517456	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:202287288C>T	uc001gxu.3	+	17	1857	c.1857C>T	c.(1855-1857)gcC>gcT	p.A619A	LGR6_uc001gxv.3_Silent_p.A567A|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.A480A	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	619						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCCTTCTAGCCTCAGTCGATG	0.627000														30			15		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764842	77764842	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:77764842C>T	uc003yau.2	+	9	6072	c.5685C>T	c.(5683-5685)atC>atT	p.I1895I	ZFHX4_uc003yaw.1_Silent_p.I1850I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1850						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S1894Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACCATCCATCCCACCACCCC	0.433000										HNSCC(33;0.089)				16			8		0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89854483	89854483	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:89854483G>A	uc010len.3	+	2	593	c.87G>A	c.(85-87)agG>agA	p.R29R	STEAP2_uc003ujy.2_Silent_p.R71R|STEAP2_uc003uka.3_Silent_p.R29R|STEAP2_uc003ujz.3_Silent_p.R29R|STEAP2_uc003ukc.3_Silent_p.R29R|STEAP2_uc003ukb.3_Silent_p.R29R|STEAP2_uc003ukd.3_Silent_p.R29R	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	29					Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					AAGATGCAAGGAAGGTCACTG	0.408000														125			35		0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778460	31778460	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31778460G>A	uc003nxh.3	-	1	1473	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	HSPA1L_uc010jte.3_Silent_p.F430F|HSPA1L_uc021yuz.1_Silent_p.F430F	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	430					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AGTAGGTGGTGAAAATCTGTG	0.597000														158			81		0	0	1	0	0
CPVL	54504	broad.mit.edu	37	7	29160613	29160613	+	Missense_Mutation	SNP	C	T	T	rs148332481	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:29160613C>T	uc003szv.3	-	1	184	c.65G>A	c.(64-66)gGg>gAg	p.G22E	CPVL_uc003szw.3_Missense_Mutation_p.G22E|CPVL_uc003szx.3_Missense_Mutation_p.G22E	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	22					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GCGAAACAGCCCATCACAGGG	0.488000														67			34		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92730808	92730808	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92730808C>T	uc003umf.3	-	2	4873	c.4603G>A	c.(4603-4605)Gaa>Aaa	p.E1535K	SAMD9_uc003umg.3_Missense_Mutation_p.E1535K|SAMD9_uc022ahg.1_Missense_Mutation_p.E1535K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1535						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)			CAATTGTTTTCAGCTCGACCT	0.373000														45			19		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3581927	3581927	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:3581927C>T	uc002kmf.3	-	7	2438	c.1911G>A	c.(1909-1911)gaG>gaA	p.E637E	DLGAP1_uc010wyz.2_Silent_p.E637E|DLGAP1_uc010dkn.3_Silent_p.E345E|DLGAP1_uc002kme.2_Silent_p.E335E|DLGAP1_uc010wyw.2_Silent_p.E343E|DLGAP1_uc010wyx.2_Silent_p.E359E|DLGAP1_uc010wyy.2_Silent_p.E321E|DLGAP1_uc002kmg.3_Silent_p.E335E	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	637					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.T636M(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TCTTCCTGTCCTCCgtggtga	0.493000														100			43		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7703877	7703877	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:7703877G>A	uc002cys.2	+	11	1806	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	RBFOX1_uc010buf.1_Missense_Mutation_p.R273Q|RBFOX1_uc002cyr.1_Missense_Mutation_p.R272Q|RBFOX1_uc002cyt.2_Missense_Mutation_p.R246Q|RBFOX1_uc010uxz.1_Missense_Mutation_p.R316Q|RBFOX1_uc010uya.1_Missense_Mutation_p.R230Q|RBFOX1_uc002cyv.1_Missense_Mutation_p.R273Q|RBFOX1_uc010uyb.1_Missense_Mutation_p.R273Q|RBFOX1_uc002cyw.2_Missense_Mutation_p.R293Q|RBFOX1_uc002cyy.2_Missense_Mutation_p.R293Q|RBFOX1_uc002cyx.2_Missense_Mutation_p.R293Q|RBFOX1_uc010uyc.1_Missense_Mutation_p.R266Q	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	273					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCGCACCTGCGAGGCCGCGGT	0.731000														25			19		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150773146	150773146	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:150773146G>A	uc004fev.4	+	2	389	c.57G>A	c.(55-57)agG>agA	p.R19R		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	19						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)					GCTCTCAAAGGAAATTAAACT	0.333000														8			15		0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3002618	3002618	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:3002618C>T	uc022brz.1	+	5	877	c.741C>T	c.(739-741)ctC>ctT	p.L247L	ARSF_uc004cre.2_Silent_p.L247L|ARSF_uc004crf.2_Silent_p.L247L	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	247						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACTGCCTCCTCATGCGGGGGC	0.507000														25			36		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121478834	121478834	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121478834G>A	uc001pxx.3	+	37	5317	c.5188G>A	c.(5188-5190)Gga>Aga	p.G1730R	SORL1_uc010rzp.1_Missense_Mutation_p.G576R|SORL1_uc010rzq.1_Missense_Mutation_p.G345R	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1730	Fibronectin type-III 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GACTAGTCGTGGAATAGGAAA	0.373000														58			23		0	0	1	0	0
CXCL9	4283	broad.mit.edu	37	4	76924824	76924824	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:76924824C>T	uc003hjh.1	-	3	344	c.305G>A	c.(304-306)gGg>gAg	p.G102E		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 9 (CXCL9), mRNA.	102					G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular defense response|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATGTTTTTTCCCATTCTTTTG	0.353000														93			20		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61978179	61978179	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61978179C>T	uc002yes.2	-	5	1973	c.1795G>A	c.(1795-1797)Gac>Aac	p.D599N	CHRNA4_uc002yet.1_Missense_Mutation_p.D423N|CHRNA4_uc010gke.1_Missense_Mutation_p.D528N|CHRNA4_uc002yev.1_Missense_Mutation_p.D423N|CHRNA4_uc010gkf.1_Missense_Mutation_p.D423N	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	599					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	AAGATGCGGTCGATGACCATG	0.657000														59			30		0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39622349	39622349	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39622349G>A	uc002hwr.3	-	1	609	c.548C>T	c.(547-549)gCc>gTc	p.A183V		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	183	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				AACTCACTTGGCCCTGAAGTC	0.547000														71			5		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94055164	94055164	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94055164G>A	uc003ung.1	+	43	3409	c.2938G>A	c.(2938-2940)Gaa>Aaa	p.E980K	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	980				E -> V (in Ref. 21; AAA51996).	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)	AAACCGTGGTGAAACTGTAAG	0.577000										HNSCC(75;0.22)				13			3		0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3002768	3002768	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3002768C>T	uc010zqd.2	+	13	1580	c.1263C>T	c.(1261-1263)gaC>gaT	p.D421D	PTPRA_uc002whj.3_Silent_p.D410D|PTPRA_uc002whk.3_Silent_p.D401D|PTPRA_uc002whl.3_Silent_p.D401D|PTPRA_uc002whm.3_Silent_p.D177D|PTPRA_uc002whn.3_Silent_p.D401D|PTPRA_uc002who.3_Silent_p.D73D	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	410	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCTGGCCAGACTTTGGGGTGC	0.562000														94			32		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833573	168833573	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:168833573G>A	uc011bpj.1	-	7	2490	c.2087C>T	c.(2086-2088)cCc>cTc	p.P696L	MECOM_uc010hwk.1_Missense_Mutation_p.P531L|MECOM_uc003ffj.3_Missense_Mutation_p.P573L|MECOM_uc003ffi.3_Missense_Mutation_p.P508L|MECOM_uc011bpi.1_Missense_Mutation_p.P509L|MECOM_uc003ffn.3_Missense_Mutation_p.P508L|MECOM_uc003ffk.2_Missense_Mutation_p.P508L|MECOM_uc003ffl.2_Missense_Mutation_p.P668L|MECOM_uc011bpk.1_Missense_Mutation_p.P508L|MECOM_uc010hwn.2_Missense_Mutation_p.P696L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AAATGGGAGGGGAAACATGGA	0.423000														102			21		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41318429	41318429	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:41318429C>T	uc001rmm.1	+	5	584	c.471C>T	c.(469-471)ctC>ctT	p.L157L	CNTN1_uc009zjy.2_Silent_p.L157L|CNTN1_uc001rmn.1_Silent_p.L146L|CNTN1_uc001rmo.3_Silent_p.L157L	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	157	Ig-like C2-type 2.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGGTGCTTCTCTGTGACCCCC	0.378000														46			13		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10910355	10910355	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:10910355G>A	uc002yip.1	-	21	1769	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.F449F|TPTE_uc002yir.1_Silent_p.F429F|TPTE_uc010gkv.1_Silent_p.F329F	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	467	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L467I(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)		GTAGACCGTCGAATACATCAA	0.338000														132			19		0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19839242	19839242	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:19839242G>A	uc002zqg.3	-	1	1142	c.543C>T	c.(541-543)gaC>gaT	p.D181D	GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.3_Silent_p.D181D|C22orf29_uc002zqi.3_Silent_p.D181D|C22orf29_uc021wli.1_Silent_p.D181D	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	Homo sapiens chromosome 22 open reading frame 29 (C22orf29), mRNA.	181										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					AACTGTTCGGGTCTTGAACAA	0.617000														95			8		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8665652	8665652	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:8665652G>A	uc002wnb.3	+	9	939	c.936G>A	c.(934-936)ctG>ctA	p.L312L	PLCB1_uc010zrb.1_Silent_p.L211L|PLCB1_uc002wna.3_Silent_p.L312L|PLCB1_uc002wnc.1_Silent_p.L211L	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	312					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						CTGAGAAACTGGATTTGAATG	0.413000														153			72		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29044306	29044306	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29044306C>T	uc002kws.3	+	8	1341	c.1232C>T	c.(1231-1233)gCc>gTc	p.A411V		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	411	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACATATCAAGCCATCGATGAG	0.358000														70			20		0	0	1	0	0
RAB30	27314	broad.mit.edu	37	11	82693265	82693265	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:82693265G>A	uc001ozu.3	-	5	815	c.554C>T	c.(553-555)tCa>tTa	p.S185L	RAB30_uc009yve.3_Missense_Mutation_p.S183L|RAB30_uc010rst.2_Missense_Mutation_p.S185L|RAB30_uc001ozv.3_3'UTR	NM_014488	NP_055303	Q15771	RAB30_HUMAN	Homo sapiens RAB30, member RAS oncogene family (RAB30), mRNA.	185					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AGGTAAGGGTGAGGATACATT	0.448000														93			45		0	0	1	0	0
DCN	1634	broad.mit.edu	37	12	91572281	91572281	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:91572281C>T	uc001tbt.3	-	1	303	c.49G>A	c.(49-51)Gga>Aga	p.G17R	DCN_uc001tbo.3_Missense_Mutation_p.G17R|DCN_uc001tbp.3_Missense_Mutation_p.G17R|DCN_uc001tbq.3_Missense_Mutation_p.G17R|DCN_uc001tbr.3_Missense_Mutation_p.G17R|DCN_uc001tbu.3_Missense_Mutation_p.G17R	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	17					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TGAAACGGTCCAGCCCAGGAA	0.473000											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			37		0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44639169	44639169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44639169C>T	uc002xqz.3	+	2	438	c.419C>T	c.(418-420)gCc>gTc	p.A140V		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	140					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	ATTGACGACGCCTTTGCCCGC	0.617000														40			17		0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328747	88328747	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:88328747C>T	uc001vln.3	+	1	1323	c.1104C>T	c.(1102-1104)tcC>tcT	p.S368S	SLITRK5_uc010tic.1_Silent_p.S127S|SLITRK5_uc021rlc.1_Silent_p.S368S	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	368	LRRNT.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AGACCAAATCCCCGGTGCCTT	0.597000														65			15		0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156395585	156395585	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:156395585C>T	uc003fav.3	+	1	521	c.99C>T	c.(97-99)atC>atT	p.I33I	TIPARP-AS1_uc011boq.2_5'Flank|TIPARP_uc003faw.3_Silent_p.I33I|TIPARP_uc021xgg.1_Silent_p.I33I	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	33							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CTGAGAAGATCACTCCATTGA	0.433000														147			20		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325338	150325338	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150325338G>A	uc022apv.1	-	2	1038	c.558C>T	c.(556-558)atC>atT	p.I186I	GIMAP6_uc003whn.3_Silent_p.I116I|GIMAP6_uc003whm.3_Missense_Mutation_p.R42C	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	116							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGATAAGACGATGGCTTGGC	0.632000														76			23		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67028325	67028325	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:67028325C>T	uc002jhu.3	-	9	1512	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	ABCA9_uc010dez.3_Missense_Mutation_p.E457K	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	457					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GAATCTGTTTCATTCTCAAGG	0.413000														74			36		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531517	92531517	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92531517G>A	uc001pdj.4	+	8	5355	c.5338G>A	c.(5338-5340)Gag>Aag	p.E1780K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1780	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGCCTAAGTGAGGCTGCCCC	0.458000										TCGA Ovarian(4;0.039)				21			14		0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79698625	79698625	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:79698625A>T	uc022bzm.1	+	0	587	c.587A>T	c.(586-588)aAa>aTa	p.K196I	FAM46D_uc004edl.1_Missense_Mutation_p.K196I|FAM46D_uc004edm.2_Missense_Mutation_p.K196I	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	196										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AAGCTAACCAAAGAATCCTAT	0.403000														18			38		0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825982	64825982	+	Silent	SNP	C	T	T	rs142141446		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64825982C>T	uc001ocn.3	-	0	28	c.12G>A	c.(10-12)acG>acA	p.T4T	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	4					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CCAACACCTTCGTCCACTGCA	0.592000														15			7		0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36933246	36933246	+	Missense_Mutation	SNP	G	A	A	rs144754091		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:36933246G>A	uc001caw.2	-	14	2455	c.1871C>T	c.(1870-1872)tCg>tTg	p.S624L	CSF3R_uc001cav.2_Missense_Mutation_p.S624L|CSF3R_uc001cax.2_Missense_Mutation_p.S624L	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	624					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTGTAGCTCCGACCCCTCTGC	0.602000														35			9		0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97192281	97192281	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:97192281G>A	uc001kkp.3	-	3	270	c.225C>T	c.(223-225)gcC>gcT	p.A75A	SORBS1_uc001kkn.3_Silent_p.A31A|SORBS1_uc001kkm.3_Silent_p.A63A|SORBS1_uc001kko.3_Silent_p.A75A|SORBS1_uc001kkq.3_Silent_p.A75A|SORBS1_uc001kkr.3_Silent_p.A43A|SORBS1_uc001kks.3_Silent_p.A43A|SORBS1_uc001kkt.3_Non-coding_Transcript|SORBS1_uc001kku.3_Silent_p.A75A|SORBS1_uc001kkv.3_Silent_p.A43A|SORBS1_uc001kkw.3_Silent_p.A75A|SORBS1_uc010qoe.2_Silent_p.A43A|SORBS1_uc010qof.1_Silent_p.A43A|SORBS1_uc001kkx.1_Silent_p.A43A	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	75					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGGAAGACGAGGCCCGGAGAG	0.527000														68			44		0	0	1	0	0
NNMT	4837	broad.mit.edu	37	11	114168706	114168706	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:114168706G>A	uc001por.1	+	3	452	c.188G>A	c.(187-189)gGc>gAc	p.G63D	NNMT_uc001pos.1_Missense_Mutation_p.G63D	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	63	S-adenosyl-L-methionine binding.				xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	ATTGACATCGGCTCTGGCCCC	0.512000														85			45		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587021	42587021	+	Missense_Mutation	SNP	G	A	A	rs78866303	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:42587021G>A	uc003xpi.1	+	4	699	c.571G>A	c.(571-573)Gac>Aac	p.D191N		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	191					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGAAAATGTCGACAGAAAAGA	0.463000														70			16		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4281527	4281527	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:4281527C>T	uc003smx.3	+	42	6372	c.6233C>T	c.(6232-6234)tCc>tTc	p.S2078F	SDK1_uc010kso.3_Missense_Mutation_p.S1334F|SDK1_uc003smy.3_Missense_Mutation_p.S565F|SDK1_uc003smz.3_Missense_Mutation_p.S138F	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	2078					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCACCTTCTCCAAGAAGAAC	0.632000														36			9		0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327032	52327032	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52327032G>A	uc002pxt.1	+	1	215	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	FPR3_uc021uyq.1_Missense_Mutation_p.E11K	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	11					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TCCTCTGAATGAAACTGAGGA	0.493000														42			22		0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135266134	135266134	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135266134G>A	uc004cbl.3	-	6	2141	c.2072C>T	c.(2071-2073)cCc>cTc	p.P691L	TTF1_uc004cbm.3_Missense_Mutation_p.P176L|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	691	Myb-like 2.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TAACTCCTGGGGAGACATCTT	0.408000														186			28		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33623571	33623571	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:33623571C>T	uc021ywr.1	+	2	413	c.189C>T	c.(187-189)aaC>aaT	p.N63N		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	63					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCCCCATGAACCGCTACTCGG	0.582000														48			5		0	0	1	0	0
PLD4	122618	broad.mit.edu	37	14	105396385	105396385	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105396385G>A	uc010tyl.1	+	5	839	c.681G>A	c.(679-681)gtG>gtA	p.V227V	PLD4_uc001ypu.1_Silent_p.V220V	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	Homo sapiens phospholipase D family, member 4 (PLD4), mRNA.	220	PLD phosphodiesterase 1.				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	TCTGGGTTGTGGATGGACGGC	0.587000														69			22		0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209358274	209358274	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:209358274G>A	uc010zjb.2	+	12	1862	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	PTH2R_uc002vdb.3_Missense_Mutation_p.E515K|PTH2R_uc010fuo.1_Intron	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	515						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GGAGACCAAGGAAGATAGTGG	0.522000														50			19		0	0	1	0	0
C1orf43	25912	broad.mit.edu	37	1	154186378	154186378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154186378G>A	uc001fei.2	-	3	721	c.331C>T	c.(331-333)Cgt>Tgt	p.R111C	C1orf43_uc001feg.2_Missense_Mutation_p.R77C|C1orf43_uc001feh.2_Intron|C1orf43_uc009wos.1_Intron|C1orf43_uc001fek.3_Missense_Mutation_p.R111C	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN	Homo sapiens chromosome 1 open reading frame 43 (C1orf43), transcript variant 3, mRNA.	111						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					CCAGAGGTACGAATGGCATCC	0.463000														137			33		0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242815135	242815135	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242815135C>T	uc010fzu.1	+	1	1451	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	476						integral to membrane											CCATCCCCTTCGCAGTCTTCG	0.627000														99			19		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84609301	84609301	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:84609301G>A	uc004amn.3	+	3	3963	c.3916G>A	c.(3916-3918)Gga>Aga	p.G1306R		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1306						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AGAGCTTGATGGAGGGGATGC	0.532000														27			6		0	0	1	0	0
HSD17B3	3293	broad.mit.edu	37	9	99003048	99003048	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:99003048C>T	uc004awa.1	-	9	862	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	HSD17B3_uc010msc.1_Intron	NM_000197	NP_000188	P37058	DHB3_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA.	272					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	ACCAAGATTTCATGGGCAAGG	0.473000														89			21		0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3395114	3395114	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3395114G>A	uc001akg.4	+	11	2000	c.1752G>A	c.(1750-1752)caG>caA	p.Q584Q	ARHGEF16_uc001aki.3_Silent_p.Q296Q|ARHGEF16_uc001akj.3_Silent_p.Q296Q|ARHGEF16_uc010nzh.2_Silent_p.Q288Q	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	584	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ACCCCTTCCAGGTGACCCTGC	0.672000														60			34		0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41165464	41165464	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41165464C>T	uc002yyo.3	+	7	1155	c.1052C>T	c.(1051-1053)aCc>aTc	p.T351I		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	351						integral to membrane|tight junction		p.D350E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GTTGCAGACACCGCTTCTCTC	0.418000														114			35		0	0	1	0	0
TMEM201	199953	broad.mit.edu	37	1	9661297	9661297	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:9661297C>T	uc021ofy.1	+	4	798	c.741C>T	c.(739-741)ccC>ccT	p.P247P	TMEM201_uc001apy.3_Silent_p.P247P|TMEM201_uc021ofz.1_Silent_p.P88P	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	Homo sapiens transmembrane protein 201 (TMEM201), transcript variant 1, mRNA.	247						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CCACTGTGCCCCTGGCCCTGC	0.692000														91			8		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36780080	36780080	+	Missense_Mutation	SNP	C	T	T	rs56070233	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36780080C>T	uc003cgi.2	-	1	562	c.71G>A	c.(70-72)cGg>cAg	p.R24Q		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	24			R -> Q (in dbSNP:rs56070233).			cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGTCAGGGCCCGGGCTTTGTT	0.567000														132			48		0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99568383	99568383	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:99568383C>T	uc003dtm.3	-	4	2600	c.2137G>A	c.(2137-2139)Ggg>Agg	p.G713R	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.G713R|FILIP1L_uc010hpf.3_Missense_Mutation_p.G289R|FILIP1L_uc010hpg.3_Missense_Mutation_p.G473R|FILIP1L_uc003dtn.3_Missense_Mutation_p.G473R|FILIP1L_uc021xbr.1_Missense_Mutation_p.G473R|FILIP1L_uc003dtp.1_Missense_Mutation_p.G473R	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	713						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GAGAGGTGCCCTGACTTAGCT	0.408000														144			11		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86813153	86813153	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:86813153C>T	uc002blz.1	+	12	1784	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	AGBL1_uc002bma.1_Silent_p.F299F|AGBL1_uc002bmb.1_Silent_p.F262F	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	568					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.F568F(2)		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						TCTGCAGGTTCGAGTATGACT	0.473000														36			10		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28761201	28761201	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:28761201G>A	uc002rmb.2	+	9	615	c.571G>A	c.(571-573)Ggc>Agc	p.G191S	PLB1_uc010ezj.2_Missense_Mutation_p.G202S	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	191	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GCTTGCGGCGGGCGGCGTGGA	0.652000														21			13		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145627710	145627710	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:145627710C>T	uc003ijs.2	+	4	1539	c.859C>T	c.(859-861)Ctc>Ttc	p.L287F		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	287						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		ACTGCTAAGCCTCGCATTCCA	0.413000														26			16		0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456123	5456123	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:5456123C>T	uc002mca.4	+	0	698	c.621C>T	c.(619-621)atC>atT	p.I207I		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	207	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGGGCCAGATCGCCATCCCCT	0.682000														89			40		0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820243	55820243	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55820243C>T	uc010spm.2	+	0	206	c.206C>T	c.(205-207)tCa>tTa	p.S69L		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTGGAAATTTCATTTACTTCT	0.393000														159			37		0	0	1	0	0
ZFP41	286128	broad.mit.edu	37	8	144332487	144332487	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144332487C>T	uc003yxw.3	+	1	832	c.474C>T	c.(472-474)ctC>ctT	p.L158L	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Silent_p.L158L	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	158					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCTCCAATCTCCTGAAACATC	0.562000														117			52		0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56233058	56233058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56233058C>T	uc010wno.2	+	0	544	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTGTGATGTTCCCCAAGTACT	0.517000														113			46		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307705	140307705	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140307705G>A	uc003lih.2	+	0	1404	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.E410K	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	434	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)			GCAGATCAGTGAATACCAAGT	0.527000														67			8		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29416609	29416609	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29416609G>A	uc002rmy.3	-	28	5296	c.4344C>T	c.(4342-4344)tcC>tcT	p.S1448S	ALK_uc010ymo.2_Silent_p.S380S	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1448					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCTTGCCAGAGGAGGTGGTAG	0.612000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					108			44		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71056346	71056346	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:71056346C>T	uc001swi.2	-	10	1951	c.1537G>A	c.(1537-1539)Gga>Aga	p.G513R	PTPRR_uc001swf.2_Non-coding_Transcript|PTPRR_uc001swg.2_Non-coding_Transcript|PTPRR_uc001swh.2_Missense_Mutation_p.G268R|PTPRR_uc009zrs.3_Missense_Mutation_p.G307R|PTPRR_uc010stq.2_Missense_Mutation_p.G401R|PTPRR_uc010str.1_Missense_Mutation_p.G362R	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	513	Tyrosine-protein phosphatase.				in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCAACTTTTCCATATATCCCT	0.373000														56			15		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81647096	81647096	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81647096C>T	uc001szl.1	+	13	1821	c.1730C>T	c.(1729-1731)tCc>tTc	p.S577F	ACSS3_uc001szm.1_Missense_Mutation_p.S576F|ACSS3_uc001szn.1_Missense_Mutation_p.S259F	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	577						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TCAATCCTTTCCCATGGTACC	0.363000														199			26		0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90435980	90435980	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:90435980G>A	uc001kfg.2	+	8	1017	c.903G>A	c.(901-903)ggG>ggA	p.G301G	LIPF_uc001kfh.2_Silent_p.G278G|LIPF_uc010qmt.2_Silent_p.G311G|LIPF_uc010qmu.2_Silent_p.G268G	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	301					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TTAAGTCTGGGAAATTCCAAG	0.308000														51			12		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23865624	23865624	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23865624G>A	uc001wjv.3	-	19	2369	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	766	Actin-binding.|Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			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)		CTGCCTTGAAGAACACCTGCA	0.642000														34			11		0	0	1	0	0
STXBP3	6814	broad.mit.edu	37	1	109302685	109302685	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:109302685C>T	uc001dvy.3	+	5	491	c.416C>T	c.(415-417)tCc>tTc	p.S139F	STXBP3_uc021oqz.1_Missense_Mutation_p.S139F	NM_007269	NP_009200	O00186	STXB3_HUMAN	Homo sapiens syntaxin binding protein 3 (STXBP3), mRNA.	139	Mediates interaction with DOC2B (By similarity).				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		ATAAATATTTCCTTCATTCCA	0.289000														148			55		0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416700	145416700	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:145416700G>A	uc001eni.2	+	3	1370	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	HFE2_uc001enk.2_Missense_Mutation_p.E236K|HFE2_uc001enj.2_Missense_Mutation_p.E123K|HFE2_uc001enl.2_Missense_Mutation_p.E123K|HFE2_uc021oux.1_Missense_Mutation_p.E123K	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	349					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTGTGCAAGGAAGGGCTTCC	0.527000														47			16		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24527904	24527904	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24527904G>A	uc001wlj.2	+	17	1565	c.1408G>A	c.(1408-1410)Gcc>Acc	p.A470T		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	470										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TTCAGCGGGAGCCCAAGCCTT	0.592000											OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			9		0	0	1	0	0
RBFA	79863	broad.mit.edu	37	18	77797462	77797462	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:77797462G>A	uc002lns.3	+	2	484	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	RBFA_uc010drh.3_Missense_Mutation_p.E112K|RBFA_uc010dri.2_Intron	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	Homo sapiens ribosome binding factor A (putative) (RBFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	112					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GTGTACCCCTGAAGTGAGTCA	0.552000														125			63		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21136298	21136298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:21136298G>A	uc002kum.4	-	7	1509	c.1235C>T	c.(1234-1236)gCc>gTc	p.A412V	NPC1_uc010xaz.2_Missense_Mutation_p.A213V|NPC1_uc010xba.1_Missense_Mutation_p.A257V	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	412					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGTGAGAGGGGCCCGGATGAT	0.562000														53			25		0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342998	29342998	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29342998G>A	uc003nme.3	-	0	71	c.67C>T	c.(67-69)Cct>Tct	p.P23S		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q22K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						AAGAAGAAAGGCTGCAGCTCC	0.393000														48			23		0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109088468	109088468	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:109088468C>T	uc002tec.3	+	5	2837	c.2683C>T	c.(2683-2685)Cat>Tat	p.H895Y	GCC2_uc002ted.3_Missense_Mutation_p.H794Y	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	895					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAGTGAAATCCATAATGAAAA	0.294000														70			17		0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82027083	82027083	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:82027083G>A	uc003hmh.2	-	14	1960	c.1947C>T	c.(1945-1947)ccC>ccT	p.P649P	PRKG2_uc011ccf.1_Silent_p.P229P|PRKG2_uc011ccg.1_Silent_p.P229P|PRKG2_uc011cch.1_Silent_p.P620P	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	649	Protein kinase.				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						CCCCAGAAAAGGGTGGGCTAG	0.398000														53			22		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165182897	165182897	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:165182897G>A	uc001gcz.2	-	4	844	c.650C>T	c.(649-651)tCc>tTc	p.S217F	LMX1A_uc021pdz.1_Missense_Mutation_p.S217F|LMX1A_uc021pdy.1_5'Flank|LMX1A_uc001gcw.2_5'Flank	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	217						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GGGCTTGGAGGATACTTCAAA	0.562000														124			60		0	0	1	0	0
LAT2	7462	broad.mit.edu	37	7	73631186	73631186	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:73631186G>A	uc003uag.3	+	3	676	c.126G>A	c.(124-126)caG>caA	p.Q42Q	LAT2_uc003uah.3_Silent_p.Q42Q|LAT2_uc003uai.3_Silent_p.Q42Q|LAT2_uc010lbo.3_Non-coding_Transcript	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	Homo sapiens linker for activation of T cells family, member 2 (LAT2), transcript variant 1, mRNA.	42					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						TCTACCAGCAGAGAAGTCTGT	0.562000														70			13		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55224579	55224579	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55224579C>T	uc002qgs.1	+	0		c.4979C>T			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		TCTGAGACCTCTTGGTCCACC	0.622000														31			21		0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6532654	6532654	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6532654C>T	uc001mdw.4	+	6	1951	c.1387C>T	c.(1387-1389)Cga>Tga	p.R463*	DNHD1_uc001mdp.3_Nonsense_Mutation_p.R463*|DNHD1_uc001mdq.3_Nonsense_Mutation_p.R152*	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	463					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATCCATTCTTCGACTGGTAAG	0.517000														94			46		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3267122	3267122	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:3267122C>T	uc022aqr.1	-	12	1957	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	CSMD1_uc011kwj.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	524	CUB 3.					integral to membrane		p.E252K(1)|p.E523K(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTCCCTTTTCAATTTCTGAA	0.443000														13			4		0	0	1	0	0
CUEDC1	404093	broad.mit.edu	37	17	55962752	55962752	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:55962752G>A	uc002ivd.1	-	1	893	c.174C>T	c.(172-174)ttC>ttT	p.F58F	CUEDC1_uc002ive.1_Silent_p.F58F	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	Homo sapiens CUE domain containing 1 (CUEDC1), mRNA.	58	CUE.									endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CCATGTTGGGGAACATGGTCT	0.647000														55			33		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32750561	32750561	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:32750561C>T	uc010ezu.3	+	58	11920	c.11786C>T	c.(11785-11787)tCa>tTa	p.S3929L		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3929					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CGTGCTGTGTCAGCTACACCA	0.428000														57			28		0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26789042	26789042	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:26789042G>A	uc001uqo.3	-	4	1322	c.977C>T	c.(976-978)tCc>tTc	p.S326F	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Missense_Mutation_p.S326F|RNF6_uc001uqq.3_Missense_Mutation_p.S326F|RNF6_uc010tdk.2_Intron	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	326	Arg-rich.				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TTCCCTTTGGGAATTATGATA	0.413000														114			53		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698508	103698508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:103698508C>T	uc001vpy.4	-	5	1619	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	341					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTGAAATCCTCCATTTGCCTT	0.363000														80			30		0	0	1	0	0
BMF	90427	broad.mit.edu	37	15	40398107	40398107	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40398107G>A	uc001zkv.3	-	1	267	c.181C>T	c.(181-183)Cga>Tga	p.R61*	BMF_uc001zkt.3_Nonsense_Mutation_p.R61*|BMF_uc001zku.3_Nonsense_Mutation_p.R61*|BMF_uc001zkw.3_Nonsense_Mutation_p.R61*	NM_033503	NP_277038	Q96LC9	BMF_HUMAN	Homo sapiens Bcl2 modifying factor (BMF), transcript variant 2, mRNA.	61				R -> Q (in Ref. 4; AAH69328).	activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		CTGGTGGGTCGAAGGCCAGGG	0.627000														60			25		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17668875	17668875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17668875C>T	uc001baj.2	+	7	941	c.913C>T	c.(913-915)Ccg>Tcg	p.P305S	PADI4_uc009vpc.2_Missense_Mutation_p.P305S	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	305					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CACCCAGCCCCCGCAGGAGGT	0.642000														57			5		0	0	1	0	0
SLC16A3	9123	broad.mit.edu	37	17	80195756	80195756	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:80195756G>A	uc002kea.3	+	3	1260	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	SLC16A3_uc021ufm.1_Silent_p.G370G|SLC16A3_uc002keb.3_Silent_p.G370G|SLC16A3_uc002kec.3_Silent_p.G370G|SLC16A3_uc002ked.3_Silent_p.G370G|SLC16A3_uc021ufn.1_Silent_p.G370G|SLC16A3_uc021ufo.1_Silent_p.G370G	NM_001042422	NP_004198	O15427	MOT4_HUMAN	Homo sapiens solute carrier family 16, member 3 (monocarboxylic acid transporter 4) (SLC16A3), transcript variant 2, mRNA.	370					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TGCTCGTCGGGCCCCCTTCGG	0.701000														25			14		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36091363	36091363	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:36091363G>A	uc004ddk.1	+	3	484	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	100						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						TTCTCTTGAGGAAGGAACAAA	0.413000														46			40		0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78411722	78411722	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:78411722G>A	uc003kfu.4	+	2	271	c.166_splice	c.e2+1	p.V56_splice	BHMT_uc011cti.2_Splice_Site_p.G56_splice	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	56	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)	CCCAGAAGCAGGTTGGTGCAG	0.547000														54			11		0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4896717	4896717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4896717C>T	uc002mbm.3	-	1	467	c.467G>A	c.(466-468)gGa>gAa	p.G156E		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	156					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GGTGGAAGTTCCTTGAACCAA	0.488000														38			20		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196801453	196801453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196801453C>T	uc002utj.4	-	19	3243	c.3142G>A	c.(3142-3144)Gaa>Aaa	p.E1048K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1048	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCAAAAGTTCATTAGATTTT	0.303000														66			6		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17449891	17449891	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17449891G>A	uc001mnc.3	-	13	2111	c.1985C>T	c.(1984-1986)cCa>cTa	p.P662L		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	662					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCTCTGCAGTGGGCCGGTGAG	0.662000														91			31		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1050936	1050936	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:1050936C>T	uc002lqw.4	+	18	2800	c.2569C>T	c.(2569-2571)Ctc>Ttc	p.L857F	ABCA7_uc010dsb.1_Missense_Mutation_p.L719F	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	857	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CTTGAGTGGCCTCTTCCCACC	0.562000														69			34		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65016088	65016088	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:65016088G>A	uc002eoi.3	-	7	1550	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	CDH11_uc010cdn.3_Intron|CDH11_uc002eoj.3_Silent_p.I372I|CDH11_uc010vin.2_Silent_p.I246I|CDH11_uc002eok.1_Non-coding_Transcript	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	372	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTTCTACTGAGATCTTGACGG	0.517000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				94			25		0	0	1	0	0
PPA2	27068	broad.mit.edu	37	4	106317465	106317465	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:106317465G>A	uc003hxl.3	-	8	830	c.810C>T	c.(808-810)tcC>tcT	p.S270S	PPA2_uc003hxn.3_Silent_p.S241S|PPA2_uc003hxo.3_Silent_p.S168S|PPA2_uc003hxp.3_Silent_p.S104S|PPA2_uc003hxq.3_Silent_p.S177S	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	Homo sapiens pyrophosphatase (inorganic) 2 (PPA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	270					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		ATTGATGAGTGGATTTAATAA	0.294000														112			41		0	0	1	0	0
LIN52	91750	broad.mit.edu	37	14	74562682	74562682	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:74562682C>T	uc001xpp.2	+	2	148	c.138C>T	c.(136-138)ttC>ttT	p.F46F	LIN52_uc010asb.2_Non-coding_Transcript	NM_001024674	NP_001019845	Q52LA3	LIN52_HUMAN	Homo sapiens lin-52 homolog (C. elegans) (LIN52), mRNA.	46										breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		CAGCTTCCTTCAAAAGTGTAA	0.313000														27			11		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55948773	55948773	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:55948773C>T	uc003has.3	-	27	3994	c.3692G>A	c.(3691-3693)aGc>aAc	p.S1231N	KDR_uc003hat.1_Missense_Mutation_p.S1231N	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1231					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			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)	CACAGGCCGGCTCTTTCGCTT	0.358000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				112			20		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164741402	164741402	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:164741402G>A	uc003fei.3	-	25	3118	c.3055C>T	c.(3055-3057)Cgt>Tgt	p.R1019C		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1019	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACCTCCACACGAAGAGTTGAG	0.393000										HNSCC(35;0.089)				106			32		0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003810	57003810	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57003810G>A	uc001njo.3	-	0	1118	c.669C>T	c.(667-669)ttC>ttT	p.F223F	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	223						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TTTGGGCGATGAAGAAGTAAC	0.627000														66			20		0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885620	180885620	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:180885620G>A	uc001gok.2	+	1	448	c.381G>A	c.(379-381)ggG>ggA	p.G127G		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	127										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGAGAGCCGGGACTCCATCAG	0.597000														143			10		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50345793	50345793	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:50345793G>A	uc004dpe.2	-	6	3808	c.3782C>T	c.(3781-3783)tCg>tTg	p.S1261L	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1261	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.S1261L(2)		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)					TGAAGGAGGCGAAAAGTGCTG	0.458000														13			17		0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56085986	56085986	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56085986C>T	uc010rjf.2	+	0	204	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATCTGGCTTTCATGGATCTTG	0.383000														164			64		0	0	1	0	0
FAM86EP	348926	broad.mit.edu	37	4	3949556	3949556	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:3949556G>A	uc011bvu.2	-	4		c.779C>T			FAM86EP_uc003ghn.3_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member E, pseudogene (FAM86EP), non-coding RNA.																		GTCACCCTGGGGCCGTCTAAG	0.602000														54			8		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15937163	15937163	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:15937163C>T	uc003jfn.1	+	3	1825	c.1344C>T	c.(1342-1344)atC>atT	p.I448I		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	448					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTTGCAGATCGTGGCCGCCA	0.627000														41			4		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28362215	28362215	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:28362215G>A	uc001zbj.3	-	86	13464	c.13358C>T	c.(13357-13359)tCg>tTg	p.S4453L	HERC2_uc001zbi.3_Missense_Mutation_p.S142L	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4453					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGACCAAACGAGCTCATCTT	0.592000														40			5		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155508777	155508777	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155508777C>T	uc003iod.1	-	3	455	c.397G>A	c.(397-399)Gat>Aat	p.D133N	FGA_uc003ioe.1_Missense_Mutation_p.D133N|FGA_uc003iof.1_Missense_Mutation_p.D133N	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	133					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTTCTCAGATCCTCTGACACT	0.393000														87			30		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1574994	1574994	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:1574994C>T	uc003wpl.3	+	3	1388	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	DLGAP2_uc003wpm.3_Missense_Mutation_p.R431W	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	510					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ATTCCGCTCCCGGAACCAGAG	0.627000														9			5		0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97919993	97919993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:97919993C>T	uc001klp.3	+	5	4771	c.3914C>T	c.(3913-3915)cCt>cTt	p.P1305L	ZNF518A_uc001klo.1_Missense_Mutation_p.P775L|ZNF518A_uc001klq.3_Missense_Mutation_p.P1305L|ZNF518A_uc001klr.3_Missense_Mutation_p.P1305L	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	1305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AAGGCAAAACCTGAAGATGTC	0.383000														24			12		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2336706	2336706	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2336706G>A	uc002cpy.1	-	21	3979	c.3267C>T	c.(3265-3267)gaC>gaT	p.D1089D	ABCA3_uc010bsk.1_Silent_p.D1031D	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	1089					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CGTTAAACTGGTCCTTGGCAG	0.632000														55			16		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54798615	54798615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54798615C>T	uc001sga.3	-	12	1357	c.1289G>A	c.(1288-1290)gGg>gAg	p.G430E	ITGA5_uc010sow.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	430					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCTGGGCCCCCAGGAAATAC	0.617000											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			7		0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	198051774	198051774	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:198051774G>A	uc021vuj.1	-	1	277	c.84C>T	c.(82-84)atC>atT	p.I28I	ANKRD44_uc021vuk.1_Silent_p.I3I|ANKRD44_uc002uub.3_Silent_p.I28I|ANKRD44_uc010zgw.2_5'UTR|ANKRD44_uc002uuc.3_Silent_p.I28I|ANKRD44_uc002uud.2_Silent_p.I28I	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	28							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAGTTTTATGGATGAGCATCC	0.428000														162			74		0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47841699	47841699	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:47841699C>T	uc002xuh.3	+	5	717	c.656C>T	c.(655-657)tCg>tTg	p.S219L		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	219						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.S219S(1)|p.L218L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAAAACCTCTCGTTCCAGGAC	0.418000														118			36		0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390352	8390352	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:8390352C>T	uc001apb.3	+	3	799	c.799C>T	c.(799-801)Cga>Tga	p.R267*	SLC45A1_uc001apc.3_5'UTR	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	267					carbohydrate transport	integral to membrane	symporter activity	p.R267*(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGGACAGCTCCGAGTCATTTA	0.637000														119			39		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942348	144942348	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144942348C>T	uc003zaa.1	-	0	5087	c.5074G>A	c.(5074-5076)Gac>Aac	p.D1692N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1692						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCACGGGGTCGATGATGCCG	0.677000														68			32		0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113352918	113352918	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:113352918C>T	uc003ian.4	+	10	2442	c.2215C>T	c.(2215-2217)Caa>Taa	p.Q739*	ALPK1_uc003iap.4_Nonsense_Mutation_p.Q739*|ALPK1_uc011cfx.2_Nonsense_Mutation_p.Q661*|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Nonsense_Mutation_p.Q567*	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	739							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCCTTCAGTCCAAAAAGAAGA	0.443000														64			37		0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133846313	133846313	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:133846313G>A	uc011ecs.2	+	18	2094	c.1778G>A	c.(1777-1779)cGa>cAa	p.R593Q	EYA4_uc011ecq.2_Intron|EYA4_uc011ecr.2_Intron|EYA4_uc003qec.4_Missense_Mutation_p.R587Q|EYA4_uc003qed.4_Intron|EYA4_uc003qee.4_Missense_Mutation_p.R564Q|BC041459_uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	587					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TGCTTTGAACGAATAATGCAA	0.408000														48			38		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19760570	19760570	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19760570G>A	uc002nnh.4	-	17	2543	c.2515C>T	c.(2515-2517)Cgt>Tgt	p.R839C	ATP13A1_uc002nne.3_5'UTR|ATP13A1_uc002nnf.4_Missense_Mutation_p.R207C|ATP13A1_uc002nng.3_Missense_Mutation_p.R721C	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	839					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGAGCCACACGGGCGAACACC	0.672000														56			19		0	0	1	0	0
CECR5	27440	broad.mit.edu	37	22	17624020	17624020	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17624020G>A	uc002zmf.3	-	5	566	c.538_splice	c.e5-1	p.P180_splice	CECR5_uc002zmh.3_Splice_Site_p.P150_splice	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 5 (CECR5), transcript variant 2, mRNA.	180							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CCTCGGGAGGGGCTGCAGAGA	0.577000														45			10		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531463	50531463	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50531463G>A	uc021pqb.1	+	0	873	c.873G>A	c.(871-873)aaG>aaA	p.K291K	C10orf71_uc021pqa.1_Silent_p.K290K|C10orf71_uc021pqc.1_Silent_p.K291K	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	291										endometrium(1)	1						TGGAGAGAAAGGACACAGCTG	0.537000														23			12		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38917285	38917285	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38917285G>A	uc021yzh.1	+	80	12296	c.12187G>A	c.(12187-12189)Gaa>Aaa	p.E4063K	DNAH8_uc003ooe.2_Missense_Mutation_p.E3846K|DNAH8_uc003oog.1_Missense_Mutation_p.E295K|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCCAGAGGAGGAAATTATCCC	0.388000														130			32		0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30790020	30790020	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:30790020G>A	uc001rjd.3	-	21	2939	c.2591C>T	c.(2590-2592)tCa>tTa	p.S864L	IPO8_uc010sjt.2_Missense_Mutation_p.S659L|IPO8_uc001rje.1_Missense_Mutation_p.S353L	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	864					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAAAGAATTGAGGGAACAAT	0.438000														92			47		0	0	1	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66123997	66123997	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:66123997C>T	uc002jgq.3	+	5		c.3120C>T								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		CTTTTAACTTCATCGATTTTT	0.313000														7			3		0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113788732	113788732	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113788732C>T	uc002tiq.1	-	3	118	c.14_splice	c.e3-1	p.R5_splice	IL36B_uc002tir.1_Splice_Site_p.R5_splice	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	5					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						TGCTGCCTCCCCTGCCAGATG	0.458000														34			16		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	13959964	13959964	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:13959964C>T	uc003wwq.3	-	6	1325	c.665G>A	c.(664-666)gGg>gAg	p.G222E	SGCZ_uc010lss.3_Missense_Mutation_p.G175E	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	209					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CACCTGGACCCCACGGGGAGC	0.463000														38			7		0	0	1	0	0
KIAA0317	9870	broad.mit.edu	37	14	75150111	75150111	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75150111G>A	uc001xqb.3	-	4	874	c.369C>T	c.(367-369)tcC>tcT	p.S123S	KIAA0317_uc010tut.1_5'UTR|KIAA0317_uc001xqd.1_Non-coding_Transcript	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	123					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		TTACTACGTTGGAATTGGGCT	0.488000														146			32		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857825	9857825	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:9857825G>A	uc010uym.2	-	13	3886	c.3576C>T	c.(3574-3576)acC>acT	p.T1192T	GRIN2A_uc002czo.4_Silent_p.T1192T|GRIN2A_uc010uyn.2_Silent_p.T1035T|GRIN2A_uc002czr.4_Silent_p.T1192T	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1192					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.F1191I(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTCTTTCAAGGTGAAGTGCT	0.542000														248			127		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31565099	31565099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:31565099C>T	uc002rnv.1	-	31	3548	c.3469G>A	c.(3469-3471)Ggg>Agg	p.G1157R		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1157					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CAAGCCACCCCATAGCTGAAG	0.443000														97			37		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70049038	70049038	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70049038G>A	uc001svg.3	-	9	1883	c.1656C>T	c.(1654-1656)ccC>ccT	p.P552P	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Silent_p.P339P|BEST3_uc010stm.2_Silent_p.P446P	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	552						chloride channel complex|plasma membrane	chloride channel activity	p.P552P(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CCTTCTCTGAGGGAGACAGGA	0.542000														80			19		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20071504	20071504	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:20071504G>A	uc002wru.3	+	6	697	c.583G>A	c.(583-585)Gat>Aat	p.D195N	C20orf26_uc010gcw.2_Missense_Mutation_p.D149N|C20orf26_uc010zse.2_Missense_Mutation_p.D195N|C20orf26_uc010zsf.1_Missense_Mutation_p.D195N	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	195								p.D195N(2)		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)		AGACCATGACGATCTCATGCC	0.438000														197			36		0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128829926	128829926	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:128829926C>T	uc010qun.2	+	16	1701	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	DOCK1_uc001ljt.3_Missense_Mutation_p.S525F	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	525	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AAGGATAAATCTGAGAAAATA	0.348000														83			34		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35779419	35779419	+	Missense_Mutation	SNP	G	A	A	rs77036027	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35779419G>A	uc003jjo.3	+	29	4529	c.4418G>A	c.(4417-4419)cGa>cAa	p.R1473Q	SPEF2_uc003jjp.1_Missense_Mutation_p.R959Q|SPEF2_uc003jjr.3_5'UTR	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1473					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GACAGTCTTCGAGATCAGTTC	0.398000														83			11		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325159	31325159	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:31325159C>T	uc010dmg.1	+	11	5402	c.5347C>T	c.(5347-5349)Caa>Taa	p.Q1783*	ASXL3_uc002kxq.2_Nonsense_Mutation_p.Q1490*	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATTGCCTCTTCAAACTACCTC	0.512000														51			20		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54186144	54186144	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:54186144C>T	uc003pcj.2	+	2	615	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	TINAG_uc003pci.3_3'UTR|TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	157					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ATGCCTTGTTCGTTCAGAATT	0.378000														39			13		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72992819	72992819	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:72992819G>A	uc002fck.3	-	1	1899	c.1226C>T	c.(1225-1227)tCg>tTg	p.S409L	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	409					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTCAGTACCGAGCTGGTGAG	0.657000														147			20		0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964834	119964834	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:119964834G>A	uc001ehs.3	+	2	1483	c.710G>A	c.(709-711)aGg>aAg	p.R237K	HSD3B2_uc021ost.1_Missense_Mutation_p.R237K|HSD3B2_uc001eht.3_Missense_Mutation_p.R237K|HSD3B2_uc001ehu.3_Intron	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	237			Missing (in AH2; activity abolished).		androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CTGGCCTTGAGGGCTCTGCGG	0.507000														94			12		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174291	150174291	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150174291C>T	uc003whj.3	+	4	1751	c.1421C>T	c.(1420-1422)aCc>aTc	p.T474I		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	474						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)		CAGCCAGTCACCAAGACCAGC	0.602000														43			22		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78340231	78340231	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:78340231G>A	uc003kfs.3	-	5	896	c.890C>T	c.(889-891)tCa>tTa	p.S297L	DMGDH_uc011cte.1_Missense_Mutation_p.S147L|DMGDH_uc011ctf.1_Missense_Mutation_p.S96L|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	297					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GAGATAATATGATCCTTCCAG	0.438000														107			45		0	0	1	0	0
OR6C74	254783	broad.mit.edu	37	12	55641666	55641666	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55641666C>T	uc010spg.2	+	0	595	c.595C>T	c.(595-597)Ctc>Ttc	p.L199F		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						AATGATGCTTCTCTCAGCCAT	0.393000														74			26		0	0	1	0	0
FAS	355	broad.mit.edu	37	10	90770529	90770529	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:90770529G>A	uc001kfr.3	+	5	871	c.525G>A	c.(523-525)ggG>ggA	p.G175G	FAS_uc010qna.2_Non-coding_Transcript|FAS_uc001kft.3_Intron|FAS_uc010qnb.2_Non-coding_Transcript|FAS_uc001kfs.3_Silent_p.G175G|FAS_uc010qnc.2_Intron|FAS_uc010qnd.2_Non-coding_Transcript|FAS_uc010qne.2_Intron|FAS_uc001kfw.3_Missense_Mutation_p.G139D|FAS_uc009xtp.3_Non-coding_Transcript	NM_000043	NP_000034	P25445	TNR6_HUMAN	Homo sapiens Fas (TNF receptor superfamily, member 6) (FAS), transcript variant 1, mRNA.	175					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	p.L174F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		CTAACTTGGGGTGGCTTTGTC	0.348000														306			69		0	0	1	0	0
C14orf166	51637	broad.mit.edu	37	14	52458057	52458057	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:52458057C>T	uc010aod.3	+	1	214	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_016039	NP_057123	Q9Y224	CN166_HUMAN	Homo sapiens chromosome 14 open reading frame 166 (C14orf166), mRNA.	28						microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding			endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					TTAGAAACTTCATCGTTTGGC	0.353000														61			5		0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98209303	98209303	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:98209303G>A	uc004avk.4	-	22	4423	c.4235C>T	c.(4234-4236)cCc>cTc	p.P1412L	PTCH1_uc010mrn.3_Missense_Mutation_p.P204L|PTCH1_uc010mro.3_Missense_Mutation_p.P1261L|PTCH1_uc010mrp.3_Missense_Mutation_p.P1261L|PTCH1_uc010mrq.3_Missense_Mutation_p.P1261L|PTCH1_uc004avl.4_Missense_Mutation_p.P1261L|PTCH1_uc004avm.4_Missense_Mutation_p.P1411L|PTCH1_uc010mrr.3_Missense_Mutation_p.P1346L	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1412					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AGGCACGTGGGGGTCCTCAAA	0.672000														96			9		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921425	24921425	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24921425C>T	uc001ywo.3	+	0	885	c.411C>T	c.(409-411)gcC>gcT	p.A137A		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	137					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)		CGGTCAAGGCCAGGAAGCCCA	0.622000														53			17		0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60366656	60366656	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:60366656G>A	uc001czq.3	-	7	1316	c.1311C>T	c.(1309-1311)gcC>gcT	p.A437A		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	437					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					AAGGCATAAAGGCTTCCCTTT	0.522000														84			10		0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125528104	125528104	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:125528104C>T	uc001lhk.1	-	8	1562	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	413					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ATCCGCGTCTCCTCCACCAGG	0.632000														79			42		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34174758	34174758	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34174758C>T	uc001bxm.1	-	21	3684	c.3507G>A	c.(3505-3507)caG>caA	p.Q1169Q	CSMD2_uc001bxn.1_Silent_p.Q1129Q|CSMD2_uc001bxo.1_Silent_p.Q42Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1129	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGGCTGGGTCTGGATGGAGT	0.473000														81			31		0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30889533	30889533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:30889533C>T	uc003xin.3	-	0	785	c.766G>A	c.(766-768)Gat>Aat	p.D256N	WRN_uc003xio.4_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.D256N	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	Homo sapiens purine-rich element binding protein G (PURG), transcript variant A, mRNA.	256						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AGCGGGTCATCGTCTCCACCT	0.453000														65			26		0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76029657	76029657	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:76029657C>T	uc003ufb.3	-	3	769	c.421G>A	c.(421-423)Ggc>Agc	p.G141S	ZP3_uc003ufc.4_Intron	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	141	SRCR 1.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						ACGCCCCAGCCGCGGCTGCCG	0.662000														43			7		0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40313113	40313113	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40313113C>T	uc001zkm.1	+	30	4237	c.4187C>T	c.(4186-4188)tCt>tTt	p.S1396F	EIF2AK4_uc010bbj.1_Missense_Mutation_p.S1097F|EIF2AK4_uc001zkn.1_Missense_Mutation_p.S496F|EIF2AK4_uc001zko.1_Missense_Mutation_p.S277F|EIF2AK4_uc010bbk.1_Non-coding_Transcript	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	1396	Histidyl-tRNA synthetase-like.				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)		ACAATAAGCTCTTGTGACCTC	0.507000														74			27		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055528	75055529	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:75055528_75055529CC>TT	uc001dgg.3	-	11	2181_2182	c.1962_1963GG>AA	c.(1960-1965)gtggag>gtAAag	p.E655K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E449K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	655	Glu-rich.									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						GGCTTGGTCTCCACATCTGCTT	0.401000														95			22		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70031747	70031747	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70031747C>T	uc001opj.3	+	24	2945	c.2640C>T	c.(2638-2640)tcC>tcT	p.S880S	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc010rqk.2_Silent_p.S589S|ANO1_uc010rql.1_Silent_p.S54S	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	880					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						ACGACATCTCCAAGGACTTCT	0.577000														80			16		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740201	37740201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:37740201C>T	uc004aag.1	+	14	1720	c.1676C>T	c.(1675-1677)cCt>cTt	p.P559L	FRMPD1_uc004aah.1_Missense_Mutation_p.P559L|FRMPD1_uc011lqm.2_Missense_Mutation_p.P381L|FRMPD1_uc011lqn.2_Missense_Mutation_p.P428L	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	559						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GAGGAGCAGCCTCCTGGGAAC	0.632000														61			13		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6896531	6896531	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6896531G>A	uc002mfw.3	+	2	255	c.217G>A	c.(217-219)Gat>Aat	p.D73N	EMR1_uc010dvc.3_Missense_Mutation_p.D73N|EMR1_uc010dvb.3_Missense_Mutation_p.D73N|EMR1_uc010xji.2_Missense_Mutation_p.D73N|EMR1_uc010xjj.2_Missense_Mutation_p.D73N	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	73	EGF-like 1.				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)					TCACTTCAAGGATCCAGGAGT	0.478000														41			20		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103063558	103063558	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103063558C>T	uc002tbx.3	+	9	1585	c.1101C>T	c.(1099-1101)acC>acT	p.T367T	IL18RAP_uc010fiz.3_Silent_p.T225T	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	367					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGCTTGGCACCATCGGGACCC	0.592000														226			81		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046521	73046521	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73046521C>T	uc004ebn.2	+	0		c.34482C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TTCTATCCTTCCTGGGTTCTG	0.468000														52			81		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121440964	121440964	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121440964G>A	uc001pxx.3	+	22	3451	c.3322G>A	c.(3322-3324)Gat>Aat	p.D1108N		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1108	LDL-receptor class A 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGACATGAGCGATGAGAGAAA	0.507000														83			34		0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85266876	85266876	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:85266876A>T	uc001szv.3	-	6	1592	c.1099T>A	c.(1099-1101)Tgc>Agc	p.C367S	SLC6A15_uc010sul.2_Missense_Mutation_p.C260S	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	367					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TGTGTAATGCATTTCTCATTT	0.318000														67			23		0	0	1	0	0
LDHA	3939	broad.mit.edu	37	11	18425294	18425294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:18425294C>T	uc001mok.3	+	5	918	c.646C>T	c.(646-648)Cca>Tca	p.P216S	LDHA_uc009yho.2_Missense_Mutation_p.P43S|LDHA_uc001mol.3_Missense_Mutation_p.P216S|LDHA_uc010rdc.1_Missense_Mutation_p.P158S|LDHA_uc021qep.1_Missense_Mutation_p.P216S|LDHA_uc010rdd.2_Missense_Mutation_p.P245S	NM_005566	NP_005557	P00338	LDHA_HUMAN	Homo sapiens lactate dehydrogenase A (LDHA), transcript variant 1, mRNA.	216					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	GACTCTGCACCCAGATTTAGG	0.383000														111			11		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389390	4389390	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4389390G>A	uc010qye.2	-	0	227	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGATGAGCAGGCTGTTCCCA	0.527000														27			13		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32712801	32712801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:32712801C>T	uc010ezu.3	+	40	8035	c.7901C>T	c.(7900-7902)tCa>tTa	p.S2634L		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2634					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATACAGTTATCATCTGTCCCA	0.368000														88			44		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30803094	30803094	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:30803094G>A	uc010xbr.1	-	16	2050	c.1908C>T	c.(1906-1908)acC>acT	p.T636T	C18orf34_uc010dme.1_Silent_p.T150T|C18orf34_uc002kxn.2_Silent_p.T636T|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Intron|C18orf34_uc002kxp.3_Silent_p.T636T	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	636										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						ATGCATCAAGGGTTTTCTTCC	0.279000														43			8		0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23380554	23380554	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23380554G>A	uc001whg.3	-	1	248	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	RBM23_uc001whh.3_Missense_Mutation_p.P17S|RBM23_uc001whi.3_Missense_Mutation_p.P17S|RBM23_uc010tne.2_5'UTR|RBM23_uc001whj.3_Intron|RBM23_uc001whk.1_Missense_Mutation_p.P17S	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	Homo sapiens RNA binding motif protein 23 (RBM23), transcript variant 1, mRNA.	17					mRNA processing	nucleus	RNA binding|nucleotide binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TTTTTATAGGGAGCTTCCAGC	0.368000														207			49		0	0	1	0	0
CD19	930	broad.mit.edu	37	16	28944640	28944640	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:28944640C>T	uc010byo.2	+	3	707	c.645C>T	c.(643-645)acC>acT	p.T215T	NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Silent_p.T215T	NM_001178098	NP_001171569	P15391	CD19_HUMAN	Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA.	215	Ig-like C2-type 2.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						TCTCCTGGACCCATGTGCACC	0.622000														33			17		0	0	1	0	0
SIAE	54414	broad.mit.edu	37	11	124530644	124530644	+	Silent	SNP	G	A	A	rs147638217		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124530644G>A	uc001qan.3	-	2	458	c.285C>T	c.(283-285)ttC>ttT	p.F95F	SIAE_uc021qru.1_Silent_p.F60F|SIAE_uc001qao.2_Silent_p.F95F	NM_170601	NP_001186851	Q9HAT2	SIAE_HUMAN	Homo sapiens sialic acid acetylesterase (SIAE), transcript variant 1, mRNA.	95						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	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;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		CCATCACTTCGAAAGGTCCTC	0.443000														183			80		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756742	56756742	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56756742G>A	uc010rjp.2	+	0	354	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TGGCTATGATGGCAGTGGATC	0.418000														82			50		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394038	233394038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:233394038C>T	uc001hvl.2	-	4	1805	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	PCNXL2_uc009xfu.3_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.	524						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)				TGCCTCTTTTCATGGCTGGAC	0.502000														50			19		0	0	1	0	0
DPY19L4	286148	broad.mit.edu	37	8	95777493	95777493	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:95777493C>T	uc003ygx.2	+	8	1077	c.953C>T	c.(952-954)tCt>tTt	p.S318F		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	318						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TTGTTGGTATCTCCTTTATTA	0.289000														145			51		0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137600082	137600082	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:137600082G>A	uc003lcn.3	-	1	387	c.247C>T	c.(247-249)Cct>Tct	p.P83S	GFRA3_uc003lco.3_Missense_Mutation_p.P83S	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	83					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGTCAGCAGGGACCGAAGGC	0.597000														57			27		0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24185163	24185163	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:24185163C>T	uc003ccz.4	-	8	1087	c.567G>A	c.(565-567)agG>agA	p.R189R	THRB_uc010hfe.3_Silent_p.R189R|THRB_uc003ccy.4_Silent_p.R189R|THRB_uc003ccx.4_Silent_p.R189R	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	189					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CTATCAGCTTCCTCTTGGCCA	0.562000														66			25		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93797595	93797595	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:93797595G>A	uc001pep.2	+	3	884	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	243	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTACCTCAATGAAAATATCAA	0.398000														39			16		0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5340055	5340055	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:5340055C>T	uc003sod.3	+	9	1373	c.1212C>T	c.(1210-1212)atC>atT	p.I404I	SLC29A4_uc003soc.3_Silent_p.I404I|SLC29A4_uc003soe.3_Silent_p.I390I	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	404					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CTCTGCAGATCCTGGCAGCCC	0.667000														52			22		0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819707	50819707	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50819707C>T	uc001jhw.3	+	0	1361	c.921C>T	c.(919-921)ttC>ttT	p.F307F	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	307					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCCTCGCCTTCCTCGAACCCA	0.637000														77			48		0	0	1	0	0
C21orf128	150147	broad.mit.edu	37	21	43524025	43524025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43524025G>A	uc002zak.2	-	1	360	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S	UMODL1_uc002zad.1_Silent_p.G377G|UMODL1_uc002zae.1_Silent_p.G377G|UMODL1_uc002zaf.1_Silent_p.G449G|UMODL1_uc002zag.1_Silent_p.G449G|UMODL1_uc010gow.1_Silent_p.G241G|UMODL1_uc002zai.1_Silent_p.G100G|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Silent_p.G100G|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Silent_p.G194G					Homo sapiens chromosome 21 open reading frame 128 (C21orf128), non-coding RNA.											lung(4)	4						ACCGAAGTGGGAAGCTGAGAA	0.567000														100			40		0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158634709	158634709	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:158634709G>A	uc002tzn.3	-	4	907	c.477C>T	c.(475-477)ccC>ccT	p.P159P	ACVR1_uc002tzm.3_Silent_p.P159P|ACVR1_uc010fog.2_Silent_p.P159P	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN	Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	159					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	ATP binding|SMAD binding|activin binding|follistatin binding|metal ion binding|protein homodimerization activity|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CCACGTCTCGGGGATTGAGGC	0.483000														40			16		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39504152	39504152	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:39504152G>A	uc003thb.2	+	10	2086	c.1943G>A	c.(1942-1944)cGa>cAa	p.R648Q	POU6F2_uc022acb.1_Missense_Mutation_p.R612Q	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	648					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R648R(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AACTATGACCGAGAAGTAGTT	0.498000														21			4		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225528	21225528	+	Missense_Mutation	SNP	C	T	T	rs61743313	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21225528C>T	uc002red.3	-	28	12894	c.12766G>A	c.(12766-12768)Gag>Aag	p.E4256K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4256					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCCTTAACTCGAAAGGAAGT	0.378000														106			38		0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25264767	25264767	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:25264767C>T	uc002wup.3	+	13	1757	c.1648C>T	c.(1648-1650)Ctg>Ttg	p.L550L		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	550					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CTCGGCCTTCCTGGAGAAGGA	0.552000														78			36		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102494353	102494353	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:102494353C>T	uc001yks.2	+	47	9507	c.9343C>T	c.(9343-9345)Ctg>Ttg	p.L3115L		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3115	AAA 4 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TAAGATGGATCTGGAGAAGCC	0.478000														234			15		0	0	1	0	0
MYOZ1	58529	broad.mit.edu	37	10	75399765	75399765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:75399765G>A	uc001jur.3	-	1	376	c.11C>T	c.(10-12)tCa>tTa	p.S4L		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	Homo sapiens myozenin 1 (MYOZ1), mRNA.	4					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CGGGGTTCCTGAGAGCGGCAT	0.542000														98			14		0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111426819	111426819	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:111426819G>A	uc003dya.3	+	1	780	c.210G>A	c.(208-210)gtG>gtA	p.V70V	PLCXD2_uc003dxz.3_Silent_p.V70V	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	70	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						AGTCCCCAGTGGGGCCTGACC	0.493000														23			9		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22040797	22040797	+	Missense_Mutation	SNP	G	A	A	rs75460545	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:22040797G>A	uc001rfh.3	-	12	1894	c.1874C>T	c.(1873-1875)tCg>tTg	p.S625L	ABCC9_uc001rfi.1_Missense_Mutation_p.S625L	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	625					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.S625L(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAAGGAAGCGAACTTTCACC	0.398000														91			24		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676384	20676384	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:20676384G>A	uc001mqd.3	+	15	2637	c.2364G>A	c.(2362-2364)gtG>gtA	p.V788V	SLC6A5_uc009yic.3_Silent_p.V553V	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	788					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AACTGCCAGTGAAGGATTTGG	0.532000														143			64		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15977991	15977991	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:15977991G>A	uc010lsu.3	-	8	1276	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	MSR1_uc003wwz.3_Silent_p.V386V|MSR1_uc003wxa.3_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	386	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCCTACAGACGACCTGTCCAA	0.542000														115			50		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54784340	54784340	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54784340G>A	uc002qfb.3	-	1	278	c.12C>T	c.(10-12)atC>atT	p.I4I	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.I4I|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.I4I|LILRB2_uc010yet.2_5'UTR|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	4					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGACTGTGACGATGGGGGTCA	0.587000														144			56		0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11363309	11363309	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:11363309C>T	uc001ikk.2	+	11	1450	c.1290C>T	c.(1288-1290)agC>agT	p.S430S	CELF2_uc010qbj.1_Silent_p.S411S|CELF2_uc001iki.4_Silent_p.S405S|CELF2_uc001ikl.4_Silent_p.S418S|CELF2_uc010qbl.1_Silent_p.S381S|CELF2_uc010qbm.1_Silent_p.S177S|CELF2_uc001iko.4_Silent_p.S385S|CELF2_uc001ikp.4_Silent_p.S387S|CELF2_uc010qbo.1_Silent_p.S300S|CELF2_uc010qbp.1_Silent_p.S177S	NM_001083591	NP_001077060	O95319	CELF2_HUMAN	Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA.	405	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ACAGCCAGAGCCTGCTGCAGC	0.657000														41			18		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719097	140719097	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140719097G>A	uc003ljk.2	+	0	744	c.559G>A	c.(559-561)Gat>Aat	p.D187N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.D187N	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	187	Cadherin 2.				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)			AAGGGGAGCTGATGGGAACAA	0.567000														108			12		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110826801	110826801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:110826801C>T	uc001vqw.4	-	38	3520	c.3398G>A	c.(3397-3399)gGa>gAa	p.G1133E		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1133	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ACCTGCTTCTCCTTTGACACC	0.547000														41			16		0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127253907	127253908	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:127253907_127253908GG>AA	uc010lld.1	-	3	646_647	c.440_441CC>TT	c.(439-441)ccc>cTT	p.P147L	PAX4_uc003vmf.2_Missense_Mutation_p.P145L|PAX4_uc003vmg.1_Missense_Mutation_p.P147L|PAX4_uc003vmh.3_Missense_Mutation_p.P145L	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	155					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P147L(2)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGCCACTATGGGGAGTGAGGAC	0.564000														51			13		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413973	22413973	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22413973C>T	uc001yuf.3	+	0	512	c.272C>T	c.(271-273)cCa>cTa	p.P91L	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TTTTGTGGCCCAAACCAGCTG	0.512000														114			20		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238445	3238445	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:3238445C>T	uc004crg.4	-	4	5438	c.5281G>A	c.(5281-5283)Gag>Aag	p.E1761K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1761						extracellular region				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)				ACTTTTCTCTCTCTCATTACT	0.507000														11			18		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13423582	13423582	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:13423582G>A	uc002mwy.3	-	11	1805	c.1569C>T	c.(1567-1569)ttC>ttT	p.F523F	CACNA1A_uc010dzc.2_Silent_p.F49F|CACNA1A_uc010xnd.2_Silent_p.F523F|CACNA1A_uc021ups.1_Silent_p.F523F|CACNA1A_uc010xne.2_Silent_p.F523F|CACNA1A_uc010dze.2_Silent_p.F523F|CACNA1A_uc021upt.1_Silent_p.F524F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	524					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CTAAGAAAATGAATTCTGCAT	0.458000														38			11		0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486995	125486995	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125486995G>A	uc004bmu.1	+	0	727	c.727G>A	c.(727-729)Ggc>Agc	p.G243S		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CTCTACCTGTGGCTCCCACCT	0.537000														148			33		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594212	179594212	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179594212C>T	uc021vsy.1	-	60	15164	c.14939G>A	c.(14938-14940)gGa>gAa	p.G4980E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G1641E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5907	Ig-like 30.						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)			CGGAGGTGTTCCCGTAACTTC	0.443000														104			27		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88669548	88669548	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:88669548G>A	uc002bme.2	-	12	1656	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	NTRK3_uc002bmh.2_Silent_p.F442F|NTRK3_uc002bmf.2_Silent_p.F450F|NTRK3_uc021sua.1_Silent_p.F442F|NTRK3_uc010upl.1_Silent_p.F352F|NTRK3_uc010bnh.1_Silent_p.F442F|NTRK3_uc002bmg.3_Silent_p.F450F	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	450					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGATCATGACGAAGAGAACCA	0.453000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				58			22		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592510	179592510	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179592510C>T	uc021vsy.1	-	64	16288	c.16063G>A	c.(16063-16065)Gga>Aga	p.G5355R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G2016R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6282	Ig-like 34.						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)			GGTGGTGTTCCTTTTAGTATT	0.393000														112			48		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057754	9057754	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9057754G>A	uc002mkp.3	-	2	29896	c.29692C>T	c.(29692-29694)Ctt>Ttt	p.L9898F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9900	Ser-rich.|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						ACTCCATAAAGGACTGCACTT	0.468000														89			28		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160141149	160141149	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160141149G>A	uc001fve.4	+	10	2079	c.1600G>A	c.(1600-1602)Gag>Aag	p.E534K	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.E37K	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	534					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAATGGGCAGGAGTACTCAAT	0.512000														61			25		0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149058	73149058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:73149058C>T	uc003hgk.2	-	21	3450	c.3413G>A	c.(3412-3414)gGa>gAa	p.G1138E		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	1138					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGTCTTACTTCCTGCTTGCTG	0.512000														88			47		0	0	1	0	0
RASL11A	387496	broad.mit.edu	37	13	27847178	27847178	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:27847178C>T	uc001urd.1	+	3	894	c.276C>T	c.(274-276)ctC>ctT	p.L92L		NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	Homo sapiens RAS-like, family 11, member A (RASL11A), mRNA.	92	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		AAGACAGCCTCCCCCAGGTCG	0.488000														66			25		0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21414830	21414830	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:21414830C>T	uc001iqm.3	-	1	441	c.390G>A	c.(388-390)ggG>ggA	p.G130G	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_3'UTR	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	130										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						ATCCATGCTTCCCTTTGGTTA	0.463000														114			55		0	0	1	0	0
QRFPR	84109	broad.mit.edu	37	4	122250491	122250491	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:122250491G>A	uc010inj.1	-	5	1653	c.1274C>T	c.(1273-1275)tCt>tTt	p.S425F	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_3'UTR	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.	425						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GTCTAAAGGAGAATTCTCAGC	0.363000														109			25		0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6866924	6866924	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6866924G>A	uc001met.1	+	0	11	c.11G>A	c.(10-12)gGa>gAa	p.G4E		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGGCTATAGGAAACTGGACA	0.383000														206			66		0	0	1	0	0
SPINK7	84651	broad.mit.edu	37	5	147693756	147693757	+	Missense_Mutation	DNP	GG	AA	AA	rs138587974		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:147693756_147693757GG>AA	uc003lpd.3	+	2	238_239	c.181_182GG>AA	c.(181-183)ggg>AAg	p.G61K	AK054753_uc003lpb.1_Intron	NM_032566	NP_115955	P58062	ISK7_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 7 (putative) (SPINK7), mRNA.	61	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCACCTATGGGAATGAATGT	0.465000														123			17		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54894350	54894350	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54894350G>A	uc001sgc.4	+	2	326	c.247G>A	c.(247-249)Gag>Aag	p.E83K	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.E33K	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	83					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity	p.E83K(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGAAAAAGCCGAGATAATTAG	0.383000														174			46		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73044380	73044380	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73044380C>T	uc004ebn.2	+	0		c.32341C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GTATTTAAACCCTTGGTTTGT	0.318000														6			9		0	0	1	0	0
GSTM1	2944	broad.mit.edu	37	1	110230845	110230845	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110230845A>T	uc001dyk.3	+	1	168	c.90A>T	c.(88-90)gaA>gaT	p.E30D	GSTM1_uc001dyl.3_Missense_Mutation_p.E30D	NM_000561	NP_000552	P09488	GSTM1_HUMAN	Homo sapiens glutathione S-transferase mu 1 (GSTM1), transcript variant 1, mRNA.	30	GST N-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(1)|lung(1)|ovary(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GCTATGAGGAAAAGAAGTACA	0.607000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					56			72		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8660990	8660990	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8660990G>A	uc002mkj.1	-	10	1578	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	ADAMTS10_uc002mkk.1_Missense_Mutation_p.S67F	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	435	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						ACGGCTGCAGGATGACCACAC	0.597000														97			51		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117993048	117993048	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:117993048G>A	uc001two.2	-	8	1412	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	482					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCGTAGAGGGTTGTTGATG	0.493000														21			11		0	0	1	0	0
WNT8A	7478	broad.mit.edu	37	5	137423581	137423581	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:137423581G>A	uc011cyk.1	+	2	618	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	WNT8A_uc011cyj.1_Missense_Mutation_p.E128K|WNT8A_uc003lcd.1_Missense_Mutation_p.E110K			Q9H1J5	WNT8A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8A (WNT8A), mRNA.	110					Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGGTGACTTCGAAAACTGTGG	0.483000														175			66		0	0	1	0	0
BCL10	8915	broad.mit.edu	37	1	85733503	85733503	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:85733503G>A	uc021opd.1	-	2	1061	c.509C>T	c.(508-510)tCt>tTt	p.S170F		NM_003921	NP_003912	O95999	BCL10_HUMAN	Homo sapiens B-cell CLL/lymphoma 10 (BCL10), mRNA.	170					T cell receptor signaling pathway|apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		ATTCAGAGAAGAATTAGTAGA	0.448000			T	IGH@	MALT									150			20		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933793	44933793	+	Missense_Mutation	SNP	C	T	T	rs148444351	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44933793C>T	uc002oze.1	-	5	1597	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	ZNF229_uc010ejk.1_Missense_Mutation_p.R42Q|ZNF229_uc010ejl.1_Missense_Mutation_p.R382Q	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GTTTGAACTTCGACCAAATGC	0.478000														175			13		0	0	1	0	0
NAIP	4671	broad.mit.edu	37	5	70308413	70308413	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:70308413C>T	uc003kar.1	-	3	1048	c.330G>A	c.(328-330)acG>acA	p.T110T	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Silent_p.T110T|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	110					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGGGGAGTCTCGTGAGGCCGG	0.493000														113			26		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140524	56140524	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:56140524C>T	uc002xyn.4	+	9	1696	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	PCK1_uc010zzm.2_Silent_p.I194I	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	511					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TGCCCAAGATCTTCCATGTCA	0.562000														58			19		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90349346	90349346	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:90349346C>T	uc002bop.4	-	1	761	c.469G>A	c.(469-471)Gag>Aag	p.E157K		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	157	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.E157Q(2)|p.V156L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TCGGTGGGCTCCACCAGCTCA	0.617000														103			22		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328076	80328076	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:80328076C>T	uc003hlu.3	-	0	1297	c.1279G>A	c.(1279-1281)Gga>Aga	p.G427R		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	427					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.G426R(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TTGGTCATTCCTCCATCTACC	0.418000														127			17		0	0	1	0	0
VLDLR	7436	broad.mit.edu	37	9	2646354	2646354	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:2646354T>C	uc003zhk.1	+	10	1902	c.1505T>C	c.(1504-1506)gTt>gCt	p.V502A	VLDLR_uc003zhl.1_Missense_Mutation_p.V502A|VLDLR_uc003zhm.1_Intron	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	502					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GATGACAAGGTTGGTAGACAT	0.393000														45			35		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37324718	37324718	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:37324718G>A	uc001caz.2	-	6	1230	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	GRIK3_uc001cba.1_Silent_p.F365F	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	365					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCTCCTTGATGAAGTTCATGA	0.617000														94			18		0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173787010	173787010	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:173787010G>A	uc002uhv.4	+	6	705	c.518_splice	c.e6-1	p.R173_splice	RAPGEF4_uc002uhu.2_Splice_Site_p.R173_splice|RAPGEF4_uc002uhw.4_Splice_Site_p.R29_splice|RAPGEF4_uc010zec.1_Splice_Site_p.R20_splice|RAPGEF4_uc010zed.1_Splice_Site_p.R20_splice|RAPGEF4_uc010zee.1_Splice_Site_p.R20_splice|RAPGEF4_uc010fqo.2_Splice_Site_p.R20_splice|RAPGEF4_uc010zef.1_5'UTR	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	173					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CTCCTTTAGGGATTCCTGACA	0.368000														207			82		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13922279	13922279	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13922279G>A	uc003jfd.2	-	4	639	c.597C>T	c.(595-597)ttC>ttT	p.F199F	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	199	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)					GGGAGCTCAAGAACTCCTGGC	0.542000									Kartagener syndrome					34			17		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98192614	98192614	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98192614C>T	uc001kml.2	-	3	711	c.470G>A	c.(469-471)aGg>aAg	p.R157K	TLL2_uc009xvf.2_Intron	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	157	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGGCCATATCCTCTCTGTCCT	0.582000														77			26		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46263989	46263989	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:46263989G>A	uc011bzc.1	-	7	1260	c.848C>T	c.(847-849)aCc>aTc	p.T283I	GABRA2_uc003gxc.3_Missense_Mutation_p.T338I|GABRA2_uc010igc.2_Missense_Mutation_p.T338I|GABRA2_uc003gxe.3_Missense_Mutation_p.T338I			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	338					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCCTCTTTTGGTGAAGTAATT	0.398000														108			34		0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234442224	234442224	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234442224G>A	uc010zmr.2	-	9	1405	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	USP40_uc010zmt.1_Nonsense_Mutation_p.Q113*	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	457					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CTGATTGGCTGGACTTTAGAA	0.423000														74			31		0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182780880	182780880	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:182780880C>T	uc002uoi.3	+	10	2835	c.2513C>T	c.(2512-2514)cCa>cTa	p.P838L	SSFA2_uc002uoh.3_Missense_Mutation_p.P838L|SSFA2_uc002uoj.3_Missense_Mutation_p.P838L|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.P685L|SSFA2_uc002uol.3_Missense_Mutation_p.P685L|SSFA2_uc002uom.3_Missense_Mutation_p.P306L	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	838						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GCTCCACCACCAATGTCTCAG	0.547000														98			32		0	0	1	0	0
CIB2	10518	broad.mit.edu	37	15	78401619	78401619	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:78401619C>T	uc010ums.1	-	3	625	c.304G>A	c.(304-306)Gct>Act	p.A102T	CIB2_uc002bdb.1_Missense_Mutation_p.A102T|CIB2_uc002bdc.1_Missense_Mutation_p.A59T	NM_006383	NP_006374	O75838	CIB2_HUMAN	Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.	102							calcium ion binding	p.S101L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						TCTCGGGGAGCCGACTCGCAG	0.552000														75			25		0	0	1	0	0
CCL25	6370	broad.mit.edu	37	19	8121312	8121312	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8121312G>A	uc002mjd.3	+	3	365	c.254G>A	c.(253-255)aGa>aAa	p.R85K	CCL25_uc002mjc.4_Missense_Mutation_p.R85K|CCL25_uc010dvy.1_Intron	NM_005624	NP_005615	O15444	CCL25_HUMAN	Homo sapiens chemokine (C-C motif) ligand 25 (CCL25), transcript variant 1, mRNA.	85					G-protein coupled receptor protein signaling pathway|chemotaxis|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						GAGGTGCAGAGAGCCATGAAG	0.557000														32			11		0	0	1	0	0
TMEM19	55266	broad.mit.edu	37	12	72092798	72092798	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:72092798C>T	uc001sws.3	+	4	1339	c.756C>T	c.(754-756)gcC>gcT	p.A252A	TMEM19_uc001swr.1_Silent_p.A238A	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	252						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		ACATTTCTGCCCCGCAGTGGC	0.453000														78			46		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141215075	141215075	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:141215075G>A	uc002tvj.1	-	60	10743	c.9771C>T	c.(9769-9771)gcC>gcT	p.A3257A		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3257					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATCTGTGATGGCATGCCATG	0.403000										TSP Lung(27;0.18)				197			20		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50903491	50903491	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:50903491G>A	uc003blh.3	-	11	1466	c.1271C>T	c.(1270-1272)gCc>gTc	p.A424V	SBF1_uc011arx.2_Missense_Mutation_p.A88V|SBF1_uc003bli.2_Missense_Mutation_p.A425V	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	424	dDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCCAGCAAAGGCCATGCCCTC	0.647000														27			15		0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028273	170028273	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:170028273G>A	uc003isa.1	-	10	2558	c.2223C>T	c.(2221-2223)acC>acT	p.T741T		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	741						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CCACTTCTAGGGTGGGCGATG	0.577000														45			15		0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39394370	39394370	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:39394370G>A	uc003jlx.3	-	1	584	c.53C>T	c.(52-54)gCc>gTc	p.A18V	DAB2_uc003jlw.3_Missense_Mutation_p.A18V	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	18					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTTTGGTGCGGCCTGTTGGTC	0.493000														59			31		0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356729	37356729	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:37356729G>A	uc002xjc.3	+	1	1288	c.1025G>A	c.(1024-1026)tGg>tAg	p.W342*		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	342					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	ATGATGAACTGGACGCACATC	0.592000														47			15		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50090791	50090791	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:50090791C>T	uc003jon.4	+	12	1150	c.968C>T	c.(967-969)tCc>tTc	p.S323F	PARP8_uc011cpz.2_Missense_Mutation_p.S215F|PARP8_uc003joo.3_Missense_Mutation_p.S323F|PARP8_uc003jop.3_Missense_Mutation_p.S323F	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	323						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGGACTTGTTCCAGCACAGTC	0.527000														64			20		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26697485	26697485	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:26697485C>T	uc002rhk.3	-	25	3311	c.3184G>A	c.(3184-3186)Gag>Aag	p.E1062K	OTOF_uc010yla.2_5'Flank|OTOF_uc002rhh.3_Missense_Mutation_p.E315K|OTOF_uc002rhi.3_Missense_Mutation_p.E372K|OTOF_uc002rhj.3_Missense_Mutation_p.E315K	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1062					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTACGCCTCGTCTGCCATC	0.612000														40			15		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28805325	28805325	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:28805325G>A	uc002rmb.2	+	24	1730	c.1686G>A	c.(1684-1686)agG>agA	p.R562R	PLB1_uc010ezj.2_Silent_p.R551R|PLB1_uc002rmc.3_Silent_p.R250R|PLB1_uc002rmd.1_Silent_p.R72R	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	562	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCAACCTGAGGGAGCTGTACC	0.517000														12			5		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43325417	43325417	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43325417G>A	uc003oux.3	-	2	713	c.635C>T	c.(634-636)cCt>cTt	p.P212L	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	212					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGGACTGAGAGGCCCTTCCTC	0.478000														101			35		0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207297708	207297708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207297708G>A	uc001hfo.3	+	5	897	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	235	Sushi 3.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TCCTACCTGTGAAAGTAAGTC	0.418000														51			15		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100010	110100010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110100010C>T	uc003ymz.4	+	0	358	c.269C>T	c.(268-270)tCc>tTc	p.S90F		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	90						integral to plasma membrane	thyrotropin-releasing hormone receptor activity	p.G89S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ATCTACGGTTCCTGGGTCTAT	0.498000														101			20		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78443370	78443370	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:78443370C>T	uc001ozl.4	-	20	3592	c.3129G>A	c.(3127-3129)ccG>ccA	p.P1043P		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1043					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CCTGAATTTCCGGCACAATGG	0.517000														39			16		0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59182605	59182605	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:59182605G>A	uc002afp.3	-	14	2042	c.1954C>T	c.(1954-1956)Cgt>Tgt	p.R652C	SLTM_uc002afn.3_Missense_Mutation_p.R194C|SLTM_uc002afo.3_Missense_Mutation_p.R634C|SLTM_uc002afq.3_Missense_Mutation_p.R221C|SLTM_uc010bgd.3_Missense_Mutation_p.R221C	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	652	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCCCGTTCACGAATTATTCTA	0.433000														105			52		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94069757	94069757	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94069757C>T	uc001ybv.1	+	22	3299	c.3216C>T	c.(3214-3216)tcC>tcT	p.S1072S	UNC79_uc001ybs.1_Silent_p.S1072S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1249						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						CCCTGACCTCCAAAATTCGTT	0.478000														45			10		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111667826	111667826	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:111667826G>A	uc010hqa.3	+	9	2946	c.2535G>A	c.(2533-2535)acG>acA	p.T845T	PHLDB2_uc003dyc.3_Silent_p.T829T|PHLDB2_uc003dyd.3_Silent_p.T802T|PHLDB2_uc003dyg.3_Silent_p.T845T|PHLDB2_uc003dyh.3_Silent_p.T802T|PHLDB2_uc003dyi.3_Intron	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	845						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCAATTCCACGAATCTATCCC	0.478000														59			29		0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023414	6023414	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6023414C>T	uc010qzv.2	-	0	965	c.965G>A	c.(964-966)aGa>aAa	p.R322K		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAGGAATTCTCTTCCTGGC	0.532000														43			15		0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39796071	39796071	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:39796071C>T	uc001wvi.4	+	19	2027	c.1691C>T	c.(1690-1692)tCa>tTa	p.S564L	CTAGE5_uc010tqe.1_Missense_Mutation_p.S521L|CTAGE5_uc001wuy.4_Missense_Mutation_p.S479L|CTAGE5_uc001wuz.4_Missense_Mutation_p.S547L|CTAGE5_uc001wva.4_Missense_Mutation_p.S530L|CTAGE5_uc001wvb.4_Missense_Mutation_p.S487L|CTAGE5_uc001wvc.4_Missense_Mutation_p.S461L|CTAGE5_uc001wvf.4_Missense_Mutation_p.S484L|CTAGE5_uc001wvg.4_Missense_Mutation_p.S559L|CTAGE5_uc001wvh.4_Missense_Mutation_p.S516L|CTAGE5_uc010amz.3_Missense_Mutation_p.S175L|CTAGE5_uc001wvj.4_Missense_Mutation_p.S530L	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	559	Pro-rich.						enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TAATTAGGCTCACGAGGCCCA	0.358000														93			21		0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263316	248263316	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248263316C>T	uc001ids.3	+	2	976	c.639C>T	c.(637-639)atC>atT	p.I213I	OR2L13_uc021pmc.1_Silent_p.I213I	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.G212D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TCATTGGCATCACTTCTTCCT	0.428000														82			26		0	0	1	0	0
SULT4A1	25830	broad.mit.edu	37	22	44234858	44234858	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:44234858G>A	uc003bee.1	-	3	513	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	SULT4A1_uc003bed.1_Missense_Mutation_p.R54C|SULT4A1_uc003bef.1_Non-coding_Transcript|SULT4A1_uc011aqb.1_Intron	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	Homo sapiens sulfotransferase family 4A, member 1 (SULT4A1), mRNA.	133					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		TTGGGGTTGCGAGCCATATAG	0.572000														57			21		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61932087	61932087	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61932087G>A	uc001jky.3	-	20	2795	c.2457C>T	c.(2455-2457)acC>acT	p.T819T	ANK3_uc001jkx.3_5'UTR|ANK3_uc010qih.2_Silent_p.T802T|ANK3_uc001jkz.4_Silent_p.T813T|ANK3_uc001jlb.1_Silent_p.T348T|ANK3_uc001jlc.1_Silent_p.T480T	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	819					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						TGGTCTCTTCGGTCACTATCT	0.483000														75			19		0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18529400	18529400	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:18529400C>T	uc002wra.2	+	15	2352	c.1891C>T	c.(1891-1893)Cat>Tat	p.H631Y	SEC23B_uc010zsb.2_Missense_Mutation_p.H613Y|SEC23B_uc002wrb.2_Missense_Mutation_p.H631Y|SEC23B_uc002wqz.2_Missense_Mutation_p.H631Y|SEC23B_uc002wrc.2_Missense_Mutation_p.H631Y	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	631					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TTACTCCTTTCATGGGCCACC	0.448000														72			8		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	124097411	124097411	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:124097411C>T	uc010nqy.3	-	0	256	c.192G>A	c.(190-192)agG>agA	p.R64R	ODZ1_uc011muj.2_Silent_p.R64R|ODZ1_uc004euj.3_Silent_p.R64R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	64	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTACTTCTTTCCTCTTTCTAC	0.358000														119			23		0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166891946	166891946	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:166891946C>T	uc001gdx.2	-	7	1151	c.1095G>A	c.(1093-1095)ggG>ggA	p.G365G		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	365						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TCTCCAAGTCCCCAGACACAG	0.532000														198			36		0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46062465	46062465	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46062465G>A	uc003cpe.3	-	2	1199	c.975C>T	c.(973-975)ttC>ttT	p.F325F	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Silent_p.F325F|XCR1_uc021wwx.1_Silent_p.F325F	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	325					G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCTCATAGGCGAAGGCACCAG	0.647000														10			5		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125874326	125874326	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:125874326G>A	uc003eim.1	-	4	739	c.549C>T	c.(547-549)atC>atT	p.I183I	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.3_5'UTR|ALDH1L1_uc010hsf.1_Silent_p.I209I|ALDH1L1_uc003eip.1_Silent_p.I90I|ALDH1L1_uc011bkj.1_Silent_p.I8I	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	183	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGCCCTCAGCGATCAGCCTCA	0.627000														37			17		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65262303	65262303	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:65262303C>T	uc001xht.3	-	10	1447	c.1396G>A	c.(1396-1398)Gcc>Acc	p.A466T	SPTB_uc001xhr.3_Missense_Mutation_p.A466T|SPTB_uc001xhs.3_Missense_Mutation_p.A466T|SPTB_uc001xhu.3_Missense_Mutation_p.A466T	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	466					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTCTCGATGGCCTCATGCTTC	0.597000														69			10		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605356	140605356	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140605356G>A	uc003ljb.3	+	0	2279	c.2279G>A	c.(2278-2280)gGg>gAg	p.G760E		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	760					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGTTCCGGGACAAATGAG	0.512000														122			43		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159560422	159560422	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:159560422G>A	uc003ipz.3	+	13	1317	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R	RXFP1_uc010iqj.2_Missense_Mutation_p.G181R|RXFP1_uc010iqk.3_Missense_Mutation_p.G220R|RXFP1_uc011cja.2_Missense_Mutation_p.G247R|RXFP1_uc010iqo.3_Missense_Mutation_p.G304R|RXFP1_uc011cjb.2_Missense_Mutation_p.G250R|RXFP1_uc011cjc.2_Missense_Mutation_p.G271R|RXFP1_uc011cjd.2_Missense_Mutation_p.G271R|RXFP1_uc010iql.3_Missense_Mutation_p.G196R|RXFP1_uc011cje.2_Missense_Mutation_p.G379R|RXFP1_uc010iqm.3_Missense_Mutation_p.G319R|RXFP1_uc011cjf.2_Missense_Mutation_p.G221R|RXFP1_uc010iqn.3_Missense_Mutation_p.G297R	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	352						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CAGCCTAGAAGGGATTGAAAT	0.269000														46			18		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209644	140209644	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140209644G>A	uc003lho.2	+	0	1995	c.1968G>A	c.(1966-1968)gaG>gaA	p.E656E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.E656E	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	667	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)			ACCACGGTGAGCCGGCGCTGA	0.697000														84			18		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74347430	74347431	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:74347430_74347431GG>AA	uc011lsa.1	-	6	1939_1940	c.1399_1400CC>TT	c.(1399-1401)cct>TTt	p.P467F	TMEM2_uc010mos.2_Missense_Mutation_p.P404F|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	467						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CAGGAACTGAGGGGTTTCTGGT	0.411000														35			22		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43976494	43976494	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:43976494G>A	uc003bdy.2	-	24	3392	c.3078C>T	c.(3076-3078)ttC>ttT	p.F1026F	EFCAB6_uc003bdz.2_Silent_p.F874F|EFCAB6_uc010gzi.2_Silent_p.F874F|EFCAB6_uc010gzj.1_Silent_p.F252F	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1026					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTGCTCTCAGGAAGTCGAGGT	0.458000														267			107		0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141190	114141190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:114141190G>A	uc004epu.1	+	5	1317	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	HTR2C_uc010nqc.1_Missense_Mutation_p.E197K|HTR2C_uc004epv.1_Missense_Mutation_p.R165Q	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	197					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACTGAGGGACGAAGAAAAGGT	0.443000														90			23		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40599853	40599853	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40599853G>A	uc001zld.3	-	0	322	c.21C>T	c.(19-21)gtC>gtT	p.V7V	PLCB2_uc010bbo.3_Silent_p.V7V|PLCB2_uc010ucm.2_Silent_p.V7V|PLCB2_uc001zle.4_Silent_p.V7V	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	7					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGGGCAGCAGGACAGGGTTGA	0.607000														52			11		0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153761272	153761272	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:153761272G>A	uc004fly.1	-	8	1049	c.936C>T	c.(934-936)ccC>ccT	p.P312P	G6PD_uc004flx.1_Silent_p.P342P	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.	312					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTCTCCATCGGGGTTCCCCA	0.612000														60			8		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513509	99513509	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:99513509G>A	uc003dti.1	+	2	895	c.767G>A	c.(766-768)gGg>gAg	p.G256E	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G255E|COL8A1_uc003dth.1_Missense_Mutation_p.G255E	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	255	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGTGTAAAGGGGCCTCCAGGG	0.647000														72			40		0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59545008	59545008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:59545008C>T	uc010ddo.3	+	4	702	c.539C>T	c.(538-540)cCc>cTc	p.P180L	TBX4_uc002izi.3_Missense_Mutation_p.P180L|TBX4_uc010woy.2_Missense_Mutation_p.P180L	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	180					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CACCTGGACCCCTTTGGCCAT	0.602000														73			27		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15829321	15829321	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:15829321C>T	uc002ddx.3	-	26	3536	c.3429G>A	c.(3427-3429)aaG>aaA	p.K1143K	MYH11_uc002ddv.3_Silent_p.K1143K|MYH11_uc002ddw.3_Silent_p.K1136K|MYH11_uc002ddy.3_Silent_p.K1136K|MYH11_uc010bvg.3_Silent_p.K968K	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1136					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTTTTCAGCCTTGTTCCTGG	0.597000			T	CBFB	AML									94			47		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29039024	29039024	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29039024G>A	uc002kws.3	+	4	510	c.401G>A	c.(400-402)gGa>gAa	p.G134E		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	134	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATGCCCAAGGACTAGATGTA	0.328000														39			21		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26085934	26085934	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:26085934C>T	uc002gzu.3	-	25	3591	c.3327G>A	c.(3325-3327)caG>caA	p.Q1109Q		NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	1109					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGTCCTCGACCTGCTCCTCAT	0.607000														12			9		0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	11978629	11978629	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:11978629G>A	uc001ila.3	-	17	3935	c.3461C>T	c.(3460-3462)cCc>cTc	p.P1154L	UPF2_uc001ilb.3_Missense_Mutation_p.P1154L|UPF2_uc001ilc.3_Missense_Mutation_p.P1154L	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	1154	Necessary for interaction with UPF1.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCCCAGTGGGGGCCCTTTCCT	0.463000														73			45		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111966270	111966270	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111966270G>A	uc001eba.3	-	4	434	c.378C>T	c.(376-378)tcC>tcT	p.S126S	OVGP1_uc001eaz.3_Silent_p.S88S|OVGP1_uc010owb.2_5'UTR|OVGP1_uc010owc.1_Silent_p.S116S	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	126					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TCCTCAGAAGGGATATAACTG	0.443000														70			45		0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38183162	38183162	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:38183162G>A	uc002hts.3	-	15	1931	c.1731C>T	c.(1729-1731)acC>acT	p.T577T	MED24_uc010wes.2_Silent_p.T412T|MED24_uc010wet.2_Intron|MED24_uc002htt.3_Silent_p.T552T|MED24_uc002htu.3_Silent_p.T539T|MED24_uc010cwn.3_Silent_p.T539T|MED24_uc010weu.2_Silent_p.T462T|MED24_uc010wev.1_Silent_p.T502T|MED24_uc010wew.1_Silent_p.T493T|MED24_uc010wex.1_Silent_p.T257T|SNORD124_uc010wey.2_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA.	552					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					ACTCCACTTTGGTGGAGTCGG	0.642000											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			10		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98807467	98807467	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:98807467G>A	uc001kmw.2	-	15	1866	c.1614C>T	c.(1612-1614)atC>atT	p.I538I	SLIT1_uc009xvh.1_Silent_p.I548I	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	538	LRRNT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding	p.R537H(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGGACTGGGGGATGCGCTCAG	0.627000														71			29		0	0	1	0	0
TMEM205	374882	broad.mit.edu	37	19	11456054	11456054	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11456054G>A	uc002mra.2	-	2	445	c.138C>T	c.(136-138)ttC>ttT	p.F46F	TMEM205_uc002mrb.2_Silent_p.F46F|TMEM205_uc002mqz.2_Silent_p.F46F|CCDC159_uc010xlr.2_5'Flank|CCDC159_uc010xls.2_5'Flank|CCDC159_uc010xlt.2_5'Flank|CCDC159_uc010xlu.2_5'Flank|CCDC159_uc010xlv.2_5'Flank	NM_033408	NP_940938	Q6UW68	TM205_HUMAN	Homo sapiens transmembrane protein 205 (TMEM205), transcript variant 2, mRNA.	46						integral to membrane				endometrium(1)|lung(1)	2						GCACTAGTCCGAAGGTATGTC	0.552000														58			10		0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112172609	112172609	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:112172609G>A	uc004bed.2	-	14	1512	c.1400C>T	c.(1399-1401)tCc>tTc	p.S467F	PTPN3_uc004beb.2_Missense_Mutation_p.S336F|PTPN3_uc004bec.2_Missense_Mutation_p.S291F|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.S422F|PTPN3_uc011lwh.1_Missense_Mutation_p.S313F|PTPN3_uc011lwd.1_5'UTR|PTPN3_uc011lwe.1_Missense_Mutation_p.S180F|PTPN3_uc011lwf.1_Missense_Mutation_p.S135F	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	467					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGTGAGCAGGAGCCTGGAGC	0.537000														82			43		0	0	1	0	0
KCNIP4	80333	broad.mit.edu	37	4	20884243	20884243	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:20884243G>A	uc021xmt.1	-	1	271	c.151C>T	c.(151-153)Cct>Tct	p.P51S	KCNIP4_uc003gqe.2_Intron|KCNIP4_uc003gqf.1_Intron|KCNIP4_uc003gqg.1_Intron|KCNIP4_uc003gqh.1_Intron|KCNIP4_uc003gqi.1_Intron|KCNIP4_uc021xmu.1_Intron|KCNIP4_uc021xms.1_Missense_Mutation_p.P14S	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.	51						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)				TGAATAGCAGGAGACGACGTT	0.443000														53			7		0	0	1	0	0
PDIA4	9601	broad.mit.edu	37	7	148703040	148703040	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:148703040G>A	uc003wff.2	-	7	1519	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	413					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			ACCACCAGGGGGCGCCTGGTG	0.627000											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			14		0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131415460	131415460	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:131415460C>T	uc011blq.2	-	5	597	c.487_splice	c.e5-1	p.V163_splice	CPNE4_uc003eok.3_Splice_Site_p.V145_splice|CPNE4_uc003eol.3_Splice_Site_p.V163_splice|CPNE4_uc003eom.3_Splice_Site_p.V145_splice	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	145	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TCAGCAATCACCTAAAGGAAA	0.403000														78			25		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36778713	36778713	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36778713G>A	uc003cgi.2	-	1	1929	c.1438C>T	c.(1438-1440)Ccg>Tcg	p.P480S		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	480	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.P480P(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AGGTTTTCCGGCTTGAGGTCC	0.453000														41			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9045590	9045590	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9045590G>A	uc002mkp.3	-	4	36245	c.36041C>T	c.(36040-36042)gCc>gTc	p.A12014V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12016	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						ACTCTCAGAGGCCAAGGTGGA	0.403000														10			5		0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84089651	84089651	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84089651G>A	uc002fhi.3	-	21	3423	c.2921C>T	c.(2920-2922)cCc>cTc	p.P974L	MBTPS1_uc002fhh.3_Missense_Mutation_p.P478L	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	974					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGGGGACAAGGGCCTCACTTG	0.502000														57			23		0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26435788	26435788	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:26435788G>A	uc003xfb.2	+	0	449	c.18G>A	c.(16-18)aaG>aaA	p.K6K	DPYSL2_uc003xfa.3_Intron|DPYSL2_uc011lag.2_Silent_p.K6K|DPYSL2_uc011lah.2_5'Flank	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	6					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		ATCAGGGGAAGAAAAATATTC	0.433000														104			27		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956040	18956040	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:18956040G>A	uc001mpg.3	-	0	510	c.292C>T	c.(292-294)Ctc>Ttc	p.L98F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	98					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACAGGATAGAGGATTTTAGAG	0.532000														139			50		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186022189	186022189	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:186022189T>A	uc001grq.1	+	42	6912	c.6683T>A	c.(6682-6684)cTc>cAc	p.L2228H		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2228	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCCCAAATCTCATCTGGAAG	0.318000														75			48		0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67430797	67430797	+	Silent	SNP	G	A	A	rs111978289		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67430797G>A	uc001omr.3	-	9	1486	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	ALDH3B2_uc001oms.3_Silent_p.L349L	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	349					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CGGAGGGGGCGAGCAGGCAGG	0.617000														42			13		0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49585792	49585792	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:49585792C>T	uc003ozk.4	-	2	543	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	RHAG_uc010jzl.3_Missense_Mutation_p.E161K|RHAG_uc010jzm.3_Missense_Mutation_p.E161K	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	161					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TTAAATATTTCACTAACCAGG	0.383000														40			5		0	0	1	0	0
KIAA0141	9812	broad.mit.edu	37	5	141309182	141309182	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:141309182C>T	uc003lls.3	+	4	570	c.448C>T	c.(448-450)Cca>Tca	p.P150S	KIAA0141_uc003llt.3_Missense_Mutation_p.P150S	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	150					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCGATGGCCCAGCTCCCAG	0.602000														95			20		0	0	1	0	0
FAM75A2	642265	broad.mit.edu	37	9	39888172	39888172	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:39888172G>A	uc004abp.3	+	3	1188	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K		NM_001040065	NP_001035154	Q5RGS2	F75A2_HUMAN	Homo sapiens family with sequence similarity 75, member A2 (FAM75A2), mRNA.	387						integral to membrane				lung(4)|skin(1)|upper_aerodigestive_tract(1)	6				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAACATGGGAGAGAACTCGAA	0.478000														42			45		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046936	42046936	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:42046936A>T	uc001cgz.4	-	3	4746	c.3533T>A	c.(3532-3534)aTg>aAg	p.M1178K	HIVEP3_uc001cha.4_Missense_Mutation_p.M1178K|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1178					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AAGTGGGGGCATGGAGTATGG	0.577000														127			38		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436749	248436749	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248436749G>A	uc010pzi.2	-	0	368	c.368C>T	c.(367-369)gCt>gTt	p.A123V		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A122A(1)|p.A122E(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			GTGGCAGACAGCCGCATAGCG	0.607000														111			21		0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31577457	31577457	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31577457G>A	uc002wyi.3	-	8	675	c.582C>T	c.(580-582)atC>atT	p.I194I		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	194					spermatogenesis			p.Y193Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CTGGCTTTTCGATGTAATCTC	0.483000														55			15		0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89430486	89430486	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89430486G>A	uc002bnd.3	-	2	311	c.230C>T	c.(229-231)tCc>tTc	p.S77F	HAPLN3_uc002bnc.3_Missense_Mutation_p.S15F|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	15	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAGTCCGTAGGAGCCGGGCAG	0.642000														55			41		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546855	37546855	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:37546855G>A	uc002xje.3	+	10	1439	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q	PPP1R16B_uc010ggc.3_Missense_Mutation_p.R375Q	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	417					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	p.R417Q(2)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AAGATCCCACGAGGTGAACTG	0.572000														184			46		0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69327560	69327560	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69327560G>A	uc003hdz.4	+	1	97	c.33G>A	c.(31-33)agG>agA	p.R11R		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	11					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TGAGGGCTAGGAAAAGAGTTT	0.428000														347			143		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20702496	20702496	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20702496C>T	uc002dhm.1	-	0	83	c.15G>A	c.(13-15)atG>atA	p.M5I	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.M5I	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	5					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						TCCGGAACCTCATTAGCCACT	0.527000														121			46		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7173261	7173261	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7173261C>T	uc001qsj.3	+	9	1577	c.858C>T	c.(856-858)cgC>cgT	p.R286R	C1S_uc001qsk.3_Silent_p.R286R|C1S_uc001qsl.3_Silent_p.R286R|C1S_uc009zfr.3_Silent_p.R119R|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	286	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGAAACTTCGCTATCATGGAG	0.433000														78			6		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79351478	79351478	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:79351478G>A	uc003hlb.2	+	36	5316	c.4876G>A	c.(4876-4878)Gcg>Acg	p.A1626T	FRAS1_uc003hkw.3_Missense_Mutation_p.A1626T|FRAS1_uc010ijj.2_Missense_Mutation_p.A46T	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1625					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCTGAGACAGCGCCCAAAGA	0.483000														46			18		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66914658	66914658	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:66914658C>T	uc002jhq.3	-	14	2158	c.1818G>A	c.(1816-1818)atG>atA	p.M606I	ABCA8_uc002jhp.3_Intron|ABCA8_uc010wqq.2_Missense_Mutation_p.M606I|ABCA8_uc010wqr.2_Missense_Mutation_p.M545I|ABCA8_uc002jhr.3_Missense_Mutation_p.M606I	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	597	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GAATATTTTTCATTTCCAATT	0.338000														5			8		0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119031618	119031618	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:119031618G>A	uc001pvs.3	+	14	2079	c.1743G>A	c.(1741-1743)acG>acA	p.T581T	ABCG4_uc009zar.3_Silent_p.T581T	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	581	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.T581T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	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)		TGATCCTGACGATCTATGGCA	0.572000														29			14		0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44782277	44782277	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:44782277C>T	uc001rod.3	+	7	1433	c.1367C>T	c.(1366-1368)tCa>tTa	p.S456L	TMEM117_uc001roe.3_Missense_Mutation_p.S352L|TMEM117_uc009zkc.3_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	Homo sapiens transmembrane protein 117 (TMEM117), mRNA.	456						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		ACCCAGGCTTCAGTAGAAGAC	0.443000														95			60		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4718406	4718406	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:4718406G>A	uc003bqc.3	+	22	3193	c.2843G>A	c.(2842-2844)gGc>gAc	p.G948D	ITPR1_uc021wsi.1_Missense_Mutation_p.G954D|ITPR1_uc021wsj.1_Missense_Mutation_p.G939D|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	963					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCCCCTGAAGGCAATGTGAAG	0.552000														23			12		0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030699	3030699	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3030699G>A	uc002fvc.1	-	0	147	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TGTCAGTAATGATGACTAGAA	0.522000														41			25		0	0	1	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514657	58514657	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:58514657G>A	uc002ybb.3	-	0	696	c.330C>T	c.(328-330)ggC>ggT	p.G110G	FAM217B_uc002yba.3_Intron|FAM217B_uc002ybc.3_5'Flank|FAM217B_uc010zzx.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3D (PPP1R3D), mRNA.	110					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CCAGCTCCAAGCCCAGGGCGT	0.726000														25			10		0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157771	26157771	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:26157771G>A	uc022bub.1	+	0	669	c.669G>A	c.(667-669)atG>atA	p.M223I	MAGEB18_uc004dbq.2_Missense_Mutation_p.M223I	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	223	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GGGAAATTATGAATATGATGG	0.473000														6			6		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79030039	79030039	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:79030039C>T	uc003kgc.3	+	1	5523	c.5451C>T	c.(5449-5451)ctC>ctT	p.L1817L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1817						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTTCTGACCTCCTTGTAGAAC	0.378000														69			20		0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85622405	85622405	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:85622405G>A	uc004amo.1	-	6	1236	c.975C>T	c.(973-975)atC>atT	p.I325I		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	325					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGTATGCTCGGATTATTTCCA	0.398000														69			47		0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099913	133099913	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:133099913G>A	uc003epi.3	+	3	1628	c.1358G>A	c.(1357-1359)gGg>gAg	p.G453E	TMEM108_uc003eph.3_Missense_Mutation_p.G453E|TMEM108_uc003epj.1_Missense_Mutation_p.G453E|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	453						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GTGGCCGAGGGGGACAAACCG	0.612000														91			12		0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54971065	54971065	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54971065C>T	uc001sgd.2	+	14	1957	c.1564C>T	c.(1564-1566)Cca>Tca	p.P522S	PDE1B_uc010soz.2_Missense_Mutation_p.P385S|PDE1B_uc010spa.1_Missense_Mutation_p.P481S|PDE1B_uc001sge.3_Missense_Mutation_p.P502S|PDE1B_uc001sgf.3_Missense_Mutation_p.P385S|PDE1B_uc009znq.3_Missense_Mutation_p.P318S	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	522					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						AGAGGCCCCCCCATCCCCTGC	0.567000														128			63		0	0	1	0	0
AK8	158067	broad.mit.edu	37	9	135690087	135690087	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:135690087G>A	uc004cbu.1	-	9	1473	c.917C>T	c.(916-918)gCt>gTt	p.A306V	AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_Missense_Mutation_p.A102V	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	Homo sapiens adenylate kinase 8 (AK8), mRNA.	306	Adenylate kinase.					cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						ATCTGCCACAGCCTCTTTCAG	0.493000														53			16		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4730287	4730287	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:4730287C>T	uc003bqc.3	+	29	4116	c.3766C>T	c.(3766-3768)Ctg>Ttg	p.L1256L	ITPR1_uc021wsi.1_Silent_p.L1262L|ITPR1_uc021wsj.1_Silent_p.L1247L|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1271					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACACATAAACCTGTTTCTCAA	0.458000														59			5		0	0	1	0	0
CRHBP	1393	broad.mit.edu	37	5	76249004	76249004	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:76249004C>T	uc003ker.3	+	0	325	c.45C>T	c.(43-45)ttC>ttT	p.F15F	CRHBP_uc010izx.3_Silent_p.F15F	NM_001882	NP_001873	P24387	CRHBP_HUMAN	Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA.	15					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TTCTCATCTTCCTGACGGCTC	0.582000														44			16		0	0	1	0	0
SLC35G1	159371	broad.mit.edu	37	10	95660812	95660812	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:95660812C>T	uc001kjg.2	+	2	724	c.663C>T	c.(661-663)caC>caT	p.H221H	SLC35G1_uc001kji.3_Intron|SLC35G1_uc001kjf.2_Silent_p.H220H|SLC35G1_uc010qnw.2_Silent_p.H204H|SLC35G1_uc001kjj.3_Intron	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN	Homo sapiens solute carrier family 35, member G1 (SLC35G1), transcript variant 1, mRNA.	221						integral to membrane											ATTCAGGCCACCTTAAGGGAA	0.443000														56			36		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40743889	40743889	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:40743889C>T	uc002xkg.3	-	21	3233	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	PTPRT_uc010ggj.3_Missense_Mutation_p.E1036K|PTPRT_uc010ggi.3_Missense_Mutation_p.E220K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1017	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R1016R(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCTCTGTTTCAATCAGGGTG	0.532000														84			33		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690377	99690377	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:99690377G>A	uc001pga.3	+	3	662	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	CNTN5_uc009ywv.2_Missense_Mutation_p.R53Q|CNTN5_uc001pfz.3_Missense_Mutation_p.R53Q|CNTN5_uc021qpb.1_Missense_Mutation_p.R53Q|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	53					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACCAGACCACGATACAGCAGC	0.423000														115			21		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151945118	151945118	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:151945118G>A	uc003wla.3	-	13	2620	c.2401C>T	c.(2401-2403)Cct>Tct	p.P801S		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	801					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.P801H(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AGAGCTGAAGGGTAATTATGC	0.433000			N		medulloblastoma									801			45		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21990920	21990920	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21990920G>A	uc001wbe.3	-	1	3224	c.2942C>T	c.(2941-2943)tCt>tTt	p.S981F	SALL2_uc010tly.2_Missense_Mutation_p.S979F|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	981							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		AGGGACTAGAGAAAGAGCAGC	0.562000														66			25		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389943	77389943	+	Missense_Mutation	SNP	G	A	A	rs149929752		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:77389943G>A	uc002ffc.4	-	8	1773	c.1354C>T	c.(1354-1356)Ccc>Tcc	p.P452S	ADAMTS18_uc010chc.1_Missense_Mutation_p.P40S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.P148S|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.	452	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P452S(4)		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						TTTCTGCAGGGATTCCCTTCT	0.428000														65			41		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129095170	129095170	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:129095170C>T	uc011koy.2	+	7	832	c.792C>T	c.(790-792)ttC>ttT	p.F264F	FAM40B_uc003vow.3_Silent_p.F264F|FAM40B_uc011koz.2_5'Flank	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	264										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCCTCACTTCCCCATAAAGA	0.517000														167			13		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151304071	151304071	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151304071G>A	uc022cgz.1	-	0	22	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Nonsense_Mutation_p.Q8*|MAGEA10_uc004ffm.2_Nonsense_Mutation_p.Q8*|MAGEA10_uc004ffl.3_Nonsense_Mutation_p.Q8*	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	8								p.R7H(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCAGCGCTGACGCTTTGGA	0.602000														39			41		0	0	1	0	0
ASPHD2	57168	broad.mit.edu	37	22	26830241	26830241	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26830241G>A	uc003acg.2	+	1	1057	c.660G>A	c.(658-660)atG>atA	p.M220I		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	220					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GATGGAAAATGAACAGCACCC	0.532000														61			20		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5759096	5759096	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:5759096G>A	uc002mda.3	+	15	1430	c.1369_splice	c.e15-1	p.D457_splice	CATSPERD_uc010duj.1_Splice_Site_p.D115_splice	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	457						integral to membrane											TGACCCCACAGGATATTTTCC	0.557000														109			32		0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85570255	85570255	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:85570255C>T	uc001dkt.3	+	13	1719	c.1528C>T	c.(1528-1530)Caa>Taa	p.Q510*	WDR63_uc009wcl.3_Nonsense_Mutation_p.Q471*	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	510										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AATATGCTGTCAACTTGTCAC	0.328000														47			14		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976432	131976432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:131976432C>T	uc002tsn.2	+	0	509	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	153							ATP binding	p.P153S(2)									GGGTAAAGTCCCCAGAAAGGA	0.572000														194			36		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649564	20649564	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:20649564C>T	uc001ytg.3	-	17	2654	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.E649K|HERC2P3_uc010tyy.2_Missense_Mutation_p.E649K					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TAATTTCCTTCTTTCCCCATC	0.587000														141			56		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38891888	38891888	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38891888C>T	uc021yzh.1	+	72	11021	c.10912C>T	c.(10912-10914)Cct>Tct	p.P3638S	DNAH8_uc003ooe.2_Missense_Mutation_p.P3421S|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACGGAAAATTCCTTTCACAGA	0.363000														91			7		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86010709	86010709	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:86010709C>T	uc003dql.3	+	6	861	c.861C>T	c.(859-861)ttC>ttT	p.F287F	CADM2_uc003dqj.3_Silent_p.F285F|CADM2_uc003dqk.3_Silent_p.F294F|CADM2_uc003dqm.2_Silent_p.F177F|CADM2_uc021xay.1_Silent_p.F177F|CADM2_uc021xaz.1_Silent_p.F177F|CADM2_uc021xba.1_Silent_p.F177F	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	285	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.L286I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACATTCTTTTCCTGAACAAAA	0.433000														111			42		0	0	1	0	0
PTGDS	5730	broad.mit.edu	37	9	139874654	139874654	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139874654G>A	uc004cke.3	+	4	1498	c.468G>A	c.(466-468)agG>agA	p.R156R	PTGDS_uc004ckd.3_Non-coding_Transcript|LCNL1_uc004ckh.1_5'Flank	NM_000954	NP_000945	P41222	PTGDS_HUMAN	Homo sapiens prostaglandin D2 synthase 21kDa (brain) (PTGDS), mRNA.	156					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGACCCCCAGGGCTGAGTTAA	0.632000														39			13		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3686422	3686423	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:3686422_3686423CC>TT	uc002wja.3	-	2	674_675	c.674_675GG>AA	c.(673-675)agg>aAA	p.R225K	SIGLEC1_uc002wiz.4_Missense_Mutation_p.R225K|SIGLEC1_uc002wjc.3_Missense_Mutation_p.R136K	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	225	Ig-like C2-type 1.				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						CGCTCTGAGCCCTGTGATTGGC	0.629000														72			29		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401879	89401879	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89401879C>T	uc010upo.1	+	11	6437	c.6063C>T	c.(6061-6063)gcC>gcT	p.A2021A	ACAN_uc010upp.1_Silent_p.A2021A|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2021					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)			CCTCTGTAGCCATGGGCACCA	0.502000														41			30		0	0	1	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105304	60105304	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60105304C>T	uc001npd.3	+	1	252	c.238C>T	c.(238-240)Cct>Tct	p.P80S		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	80						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TGCATTAAATCCTGCCTCATT	0.473000														115			34		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175049404	175049404	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175049404C>T	uc001gkl.1	+	3	1003	c.890C>T	c.(889-891)cCc>cTc	p.P297L	TNN_uc010pmx.1_Missense_Mutation_p.P297L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	297	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.Y296*(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCTACTACCCCCTGGGGAAG	0.577000														83			9		0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2852691	2852691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:2852691C>T	uc002lwo.3	+	3	766	c.628C>T	c.(628-630)Cct>Tct	p.P210S	ZNF555_uc002lwn.4_Missense_Mutation_p.P209S	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		GAAAACCTTTCCTCGTACTTC	0.448000														75			40		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882732	228882732	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228882732C>T	uc002vpq.2	-	6	2885	c.2838G>A	c.(2836-2838)gcG>gcA	p.A946A	SPHKAP_uc002vpp.2_Silent_p.A946A|SPHKAP_uc010zlx.1_Silent_p.A946A	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	946	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAAGGCAAATCGCTGCAATTT	0.473000														129			18		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180064816	180064816	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:180064816G>A	uc001gnt.3	+	34	9053	c.8670G>A	c.(8668-8670)aaG>aaA	p.K2890K	CEP350_uc009wxl.2_Silent_p.K2889K|CEP350_uc001gnv.3_Silent_p.K1025K|CEP350_uc001gnw.1_Silent_p.K647K|CEP350_uc001gnx.1_Silent_p.K647K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2890						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAAAAAATAAGGCAGAAGAAA	0.433000														54			21		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31167799	31167799	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:31167799C>T	uc002rns.3	-	8	1407	c.767G>A	c.(766-768)tGg>tAg	p.W256*	GALNT14_uc002rnq.3_Nonsense_Mutation_p.W231*|GALNT14_uc010ymr.2_Nonsense_Mutation_p.W216*|GALNT14_uc002rnr.3_Nonsense_Mutation_p.W251*|GALNT14_uc010ezo.2_Nonsense_Mutation_p.W218*|GALNT14_uc010ezp.1_Intron	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	251						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GTGGAGGCTCCAGTCAAACCC	0.577000														72			7		0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242129552	242129552	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242129552G>A	uc002wax.2	+	1	339	c.236G>A	c.(235-237)aGg>aAg	p.R79K	ANO7_uc002waw.3_Missense_Mutation_p.R79K	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	79						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCAGAGAAGAGGGGCTCTTAC	0.662000														5			4		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65489537	65489537	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65489537G>A	uc002aon.2	-	8	3268	c.3087C>T	c.(3085-3087)ccC>ccT	p.P1029P		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	1029					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AGCTGCCCTGGGGGATGACCT	0.582000														88			18		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939556	12939556	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12939556G>A	uc001aun.2	-	3	1317	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	416										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGGGGCAGGATACAGCTCC	0.512000														623			68		0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83999347	83999347	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:83999347C>T	uc002fha.3	+	6	1418	c.1418C>T	c.(1417-1419)tCc>tTc	p.S473F	NECAB2_uc002fhd.3_5'Flank|OSGIN1_uc002fhb.3_Missense_Mutation_p.S390F|OSGIN1_uc002fhc.3_Missense_Mutation_p.S390F	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	473					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						TTTGGGGTCTCCCTGGTGCTG	0.647000														61			7		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886491	228886491	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228886491C>T	uc002vpq.2	-	5	680	c.633G>A	c.(631-633)gaG>gaA	p.E211E	SPHKAP_uc002vpp.2_Silent_p.E211E|SPHKAP_uc010zlx.1_Silent_p.E211E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	211						cytoplasm	protein binding	p.I210I(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAAAGTCTTCCTCGATTGAAG	0.473000														82			24		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140407020	140407020	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:140407020C>T	uc003eto.2	+	2	1702	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	499						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAGGTACGCTCCTCAGGGGAC	0.572000														50			24		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155448661	155448661	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155448661G>A	uc009wqq.3	-	2	4480	c.4000C>T	c.(4000-4002)Ccc>Tcc	p.P1334S	ASH1L_uc001fkt.3_Missense_Mutation_p.P1334S|ASH1L_uc009wqr.1_Missense_Mutation_p.P1334S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1334					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)			GGGTCTAAGGGGAAAGAAGGA	0.408000														96			27		0	0	1	0	0
TNFRSF18	8784	broad.mit.edu	37	1	1139810	1139810	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:1139810C>T	uc001add.3	-	2	505	c.367G>A	c.(367-369)Ggc>Agc	p.G123S	TNFRSF18_uc001ada.3_Missense_Mutation_p.G51S|TNFRSF18_uc001adb.3_Missense_Mutation_p.G123S|TNFRSF18_uc001adc.3_Missense_Mutation_p.G123S	NM_148901	NP_683699	Q9Y5U5	TNR18_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 18 (TNFRSF18), transcript variant 2, mRNA.	123					anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTTCGTGGCCCCCGGAGAAG	0.652000														35			18		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600242	141600242	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:141600242G>A	uc010ioj.3	-	4	977	c.705C>T	c.(703-705)ttC>ttT	p.F235F		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	235						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGATGTTGAGGAATACAGAGA	0.478000														157			58		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24923060	24923060	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24923060G>A	uc001ywo.3	+	0	2520	c.2046G>A	c.(2044-2046)gtG>gtA	p.V682V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	682					cell differentiation|multicellular organismal development|spermatogenesis			p.V682L(1)		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)		CCACTTTAGTGAACAGTGCCT	0.522000														187			67		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858544	9858544	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:9858544C>G	uc010uym.2	-	13	3167	c.2857G>C	c.(2857-2859)Gag>Cag	p.E953Q	GRIN2A_uc002czo.4_Missense_Mutation_p.E953Q|GRIN2A_uc010uyn.2_Missense_Mutation_p.E796Q|GRIN2A_uc002czr.4_Missense_Mutation_p.E953Q	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	953					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.K952K(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAAATGCTCTCTTTCCCCTGA	0.443000														164			14		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486955	94486955	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:94486955G>A	uc004arj.2	-	8	2020	c.1821C>T	c.(1819-1821)tcC>tcT	p.S607S	ROR2_uc004ari.1_Silent_p.S467S	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	607	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGTGGTGGCTGGATAGGTACT	0.607000														51			23		0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37100898	37100898	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:37100898C>T	uc002oek.3	+	2	195	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	ZNF382_uc010efa.3_Intron|ZNF382_uc010efb.3_Nonsense_Mutation_p.Q27*|ZNF382_uc002oel.3_Nonsense_Mutation_p.Q28*	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	28	KRAB.|Mediates interaction with TRIM28 (By similarity).|Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGACCCTGCTCAGAAGGCGCT	0.478000														82			40		0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31761975	31761975	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31761975G>A	uc002wyo.1	+	3	464	c.393G>A	c.(391-393)gcG>gcA	p.A131A		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.	131						extracellular region	lipid binding										CTGTCACCGCGAATGTCACTG	0.532000														81			28		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2690852	2690852	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2690852C>T	uc009zdu.1	+	13	2305	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	CACNA1C_uc001qkc.2_Silent_p.I664I|CACNA1C_uc001qjz.2_Silent_p.I664I|CACNA1C_uc001qkd.2_Silent_p.I664I|CACNA1C_uc001qke.2_Silent_p.I664I|CACNA1C_uc001qkf.2_Silent_p.I664I|CACNA1C_uc009zdw.1_Silent_p.I664I|CACNA1C_uc001qkg.2_Silent_p.I664I|CACNA1C_uc001qkh.2_Silent_p.I664I|CACNA1C_uc001qkl.2_Silent_p.I664I|CACNA1C_uc001qkj.2_Silent_p.I664I|CACNA1C_uc001qkk.2_Silent_p.I664I|CACNA1C_uc001qkn.2_Silent_p.I664I|CACNA1C_uc001qkm.2_Silent_p.I664I|CACNA1C_uc001qko.2_Silent_p.I664I|CACNA1C_uc001qkp.2_Silent_p.I664I|CACNA1C_uc001qkq.2_Silent_p.I664I|CACNA1C_uc001qku.2_Silent_p.I664I|CACNA1C_uc001qkr.2_Silent_p.I664I|CACNA1C_uc001qks.2_Silent_p.I664I|CACNA1C_uc001qkt.2_Silent_p.I664I|CACNA1C_uc009zdv.1_Silent_p.I661I|CACNA1C_uc001qkb.2_Silent_p.I664I|CACNA1C_uc001qka.1_Silent_p.I199I|CACNA1C_uc001qki.1_Silent_p.I400I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	664					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	tcatcatcatcttctccctcc	0.537000														24			10		0	0	1	0	0
POU5F1	5460	broad.mit.edu	37	6	31138004	31138004	+	RNA	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31138004T>A	uc011dng.1	+	0		c.12T>A			POU5F1_uc003nsv.3_Missense_Mutation_p.N132Y			Q01860	PO5F1_HUMAN	Homo sapiens partial mRNA for POU class 5 homeobox 1 (POU5F1 gene), clone ARO0003057_AS.						BMP signaling pathway involved in heart induction|anatomical structure morphogenesis|blastocyst development|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of SMAD protein import into nucleus|positive regulation of catenin import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						TCCTCCGGGTTTTGCTCCAGC	0.652000			T	EWSR1	sarcoma									58			25		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50750524	50750524	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:50750524G>A	uc002egm.1	+	4	2594	c.2489G>A	c.(2488-2490)cGa>cAa	p.R830Q	NOD2_uc010cbl.1_Missense_Mutation_p.R608Q|NOD2_uc010cbm.1_Missense_Mutation_p.R608Q|NOD2_uc010cbn.1_Intron|NOD2_uc010cbo.1_Intron|NOD2_uc010cbp.1_Intron|NOD2_uc010cbq.1_5'UTR|NOD2_uc010cbr.1_Intron	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	830					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ATCTCAGACCGAGGCATCTGC	0.428000														28			17		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167284402	167284402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:167284402C>T	uc002udu.2	-	16	2879	c.2749G>A	c.(2749-2751)Gga>Aga	p.G917R	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	917					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CAGATTTTTCCTTTCTTGGAT	0.408000														47			11		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390859	197390859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197390859C>T	uc001gtz.3	+	5	2110	c.1901C>T	c.(1900-1902)cCa>cTa	p.P634L	CRB1_uc010poz.2_Missense_Mutation_p.P565L|CRB1_uc009wza.3_Missense_Mutation_p.P522L|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Missense_Mutation_p.P634L|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.P115L|CRB1_uc001gub.1_Missense_Mutation_p.P283L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	634	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TATAATATGCCATCCACACCT	0.408000														149			54		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113288760	113288760	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113288760G>A	uc001pnz.3	-	1	705	c.384C>T	c.(382-384)atC>atT	p.I128I	DRD2_uc010rwv.2_Silent_p.I127I|DRD2_uc001poa.4_Silent_p.I128I|DRD2_uc001pob.4_Silent_p.I128I|DRD2_uc009yyr.1_Silent_p.I128I	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	128					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.A127V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TGTCGATGCTGATGGCACACA	0.552000														41			9		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18332967	18332967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18332967G>A	uc010xqc.2	-	1	889	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	PDE4C_uc002nik.4_Missense_Mutation_p.R137W|PDE4C_uc002nil.4_Missense_Mutation_p.R137W|PDE4C_uc002nig.4_5'Flank|PDE4C_uc002nih.4_5'Flank|PDE4C_uc010ebk.3_Missense_Mutation_p.R31W|PDE4C_uc002nii.4_Missense_Mutation_p.R105W|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_5'Flank|PDE4C_uc002nim.1_Missense_Mutation_p.R137W	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	137					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GAGGAGTTCCGAGACATGGCC	0.607000														30			23		0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75937790	75937790	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:75937790C>T	uc003hih.2	+	1	452	c.199C>T	c.(199-201)Cca>Tca	p.P67S		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	67					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CTCGGTGCTCCCAGTTACAGC	0.517000														72			19		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157067	155157067	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155157067C>T	uc003inw.2	-	24	7372	c.7372G>A	c.(7372-7374)Gga>Aga	p.G2458R		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2458	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D2457N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGAATGACTCCATCAATACCA	0.378000														108			43		0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27296616	27296616	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:27296616C>T	uc003xfn.2	+	23	2520	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F	PTK2B_uc022ate.1_Missense_Mutation_p.S571F|PTK2B_uc003xfp.2_Missense_Mutation_p.S571F|PTK2B_uc003xfq.2_Missense_Mutation_p.S571F|PTK2B_uc003xfr.1_Missense_Mutation_p.S317F	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	571	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TTTGGTCTTTCCCGGTACATT	0.557000														78			29		0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103772	52103772	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:52103772C>T	uc001jje.3	-	6	1057	c.103G>A	c.(103-105)Gac>Aac	p.D35N	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.D35N|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.D35N|SGMS1_uc021pqo.1_Missense_Mutation_p.D35N|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	41	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TTGATCAAGTCCTGGCCTGTG	0.512000														57			29		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30680738	30680738	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:30680738G>A	uc003nrg.4	-	4	1421	c.981C>T	c.(979-981)atC>atT	p.I327I	MDC1_uc003nrf.4_5'UTR|MDC1_uc011dmp.1_Silent_p.I199I|MDC1_uc003nrh.1_Silent_p.I199I|MDC1_uc003nri.2_Silent_p.I327I	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	327	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGTCGCTGTCGATGAAGCCAA	0.532000								Other conserved DNA damage response genes						169			18		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932393	83932393	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83932393G>A	uc002bjt.1	-	3	1698	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	BNC1_uc010uos.1_Missense_Mutation_p.S525F	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	537					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GGACTTCCTGGATTTCTTCTT	0.463000														145			14		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74361203	74361203	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:74361203G>A	uc011lsa.1	-	2	926	c.386C>T	c.(385-387)tCt>tTt	p.S129F	TMEM2_uc010mos.2_Missense_Mutation_p.S129F|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	129	G8.					integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TTGCTTTGCAGAATCTTGTCC	0.433000														78			10		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145627780	145627780	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:145627780G>A	uc003ijs.2	+	4	1609	c.929G>A	c.(928-930)tGg>tAg	p.W310*		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	310						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CAAGAACGGTGGGCTATCGGG	0.433000														35			16		0	0	1	0	0
TSPAN13	27075	broad.mit.edu	37	7	16817503	16817503	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:16817503C>T	uc003stq.3	+	3	635	c.393C>T	c.(391-393)ttC>ttT	p.F131F		NM_014399	NP_055214	O95857	TSN13_HUMAN	Homo sapiens tetraspanin 13 (TSPAN13), mRNA.	131						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GCTGTGGGTTCCGAAGTGTTA	0.368000														71			13		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322632	55322632	+	Missense_Mutation	SNP	G	A	A	rs72140406		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55322632G>A	uc010rig.2	+	0	850	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S283Y(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ACACAGTTCTGAAGGGCGCTG	0.453000										HNSCC(20;0.049)				139			29		0	0	1	0	0
CLDN12	9069	broad.mit.edu	37	7	90042413	90042413	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:90042413C>T	uc003ukp.3	+	4	1059	c.423C>T	c.(421-423)ttC>ttT	p.F141F	CLDN12_uc003ukq.3_Silent_p.F141F|CLDN12_uc010leq.3_Silent_p.F141F|CLDN12_uc003uks.3_Silent_p.F141F|CLDN12_uc003ukr.3_Silent_p.F141F|CLDN12_uc022ahd.1_Silent_p.F141F	NM_012129	NP_036261	P56749	CLD12_HUMAN	Homo sapiens claudin 12 (CLDN12), transcript variant 3, mRNA.	141					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						TGCTATTTTTCCTGGCAGGTA	0.493000														114			50		0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55690819	55690819	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:55690819C>T	uc021tio.1	+	0	264	c.213C>T	c.(211-213)ggC>ggT	p.G71G	SLC6A2_uc002eif.3_Silent_p.G71G|SLC6A2_uc002eig.3_Silent_p.G71G	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	71					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CCGTAGTCGGCTTCGCAGTGG	0.672000														87			25		0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119027100	119027100	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:119027100G>A	uc001pvs.3	+	6	1084	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	ABCG4_uc009zar.3_Missense_Mutation_p.G250S	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	250	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	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)		GGCACAGGGGGGCCGTACCAT	0.587000														163			66		0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131283082	131283082	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:131283082C>T	uc011blq.2	-	10	1203	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	CPNE4_uc003eok.3_Missense_Mutation_p.E347K|CPNE4_uc003eol.3_Missense_Mutation_p.E365K|CPNE4_uc003eom.3_Missense_Mutation_p.E347K	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	347	VWFA.							p.G364G(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGGCAAATCTCCCCCACAGCT	0.502000														72			37		0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39884747	39884747	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:39884747C>T	uc003axv.4	+	1	1634	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	MGAT3_uc010gxy.3_Silent_p.F465F	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	465					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGGGCTGGTTCGACGGCACGC	0.637000														25			7		0	0	1	0	0
TRH	7200	broad.mit.edu	37	3	129694861	129694861	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:129694861G>A	uc003enc.3	+	1	763	c.202G>A	c.(202-204)Gag>Aag	p.E68K		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	68					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						GGACCAGGGTGAGCACTCCGG	0.667000														24			13		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	25473	25473	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000209.1:25473G>A	uc002qts.2	+	2	219	c.190G>A	c.(190-192)Ggg>Agg	p.G64R	KIR2DL2_uc002qtt.2_Missense_Mutation_p.G64R	NM_014219	NP_055034	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 (KIR2DL2), mRNA.	64	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										GCACAGAGAAGGGAAGTTTAA	0.527000														129			23		0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151108512	151108512	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151108512G>A	uc001ewv.3	-	12	1570	c.1234C>T	c.(1234-1236)Cag>Tag	p.Q412*	SEMA6C_uc001ewu.3_Nonsense_Mutation_p.Q412*|SEMA6C_uc001eww.3_Nonsense_Mutation_p.Q372*	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	412	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTAGAGGCTGATGGGTGACA	0.557000														54			31		0	0	1	0	0
PPM1A	5494	broad.mit.edu	37	14	60712655	60712655	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:60712655G>A	uc001xew.4	+	0	186	c.90G>A	c.(88-90)agG>agA	p.R30R	BC035195_uc001xev.1_5'Flank|PPM1A_uc010apn.3_5'UTR	NM_177952	NP_808821	P35813	PPM1A_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1A (PPM1A), transcript variant 3, mRNA.	87					Wnt receptor signaling pathway|cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein dephosphorylation	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		ggaagagaagggcaaagaagg	0.398000														11			3		0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18160191	18160191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:18160191C>T	uc003ncn.1	+	2	306	c.65C>T	c.(64-66)cCt>cTt	p.P22L		NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	22					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GATAGCCTTCCTTTGAGGAGC	0.403000														32			16		0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12692196	12692196	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12692196G>A	uc002mtz.2	-	4	822	c.693C>T	c.(691-693)ttC>ttT	p.F231F		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						AGAGAAATGCGAAGGCTTTGC	0.423000														83			42		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31133838	31133838	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:31133838C>T	uc002rns.3	-	15	2243	c.1603G>A	c.(1603-1605)Ggc>Agc	p.G535S	GALNT14_uc002rnq.3_Missense_Mutation_p.G510S|GALNT14_uc010ymr.2_Missense_Mutation_p.G495S|GALNT14_uc002rnr.3_Missense_Mutation_p.G530S	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	530	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V535I(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					ATTTCCTTGCCGTTCTCGGTG	0.537000														63			31		0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93125602	93125602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:93125602C>T	uc001yap.3	+	6	2275	c.2123C>T	c.(2122-2124)tCg>tTg	p.S708L	RIN3_uc010auk.3_Missense_Mutation_p.S370L|RIN3_uc001yaq.3_Missense_Mutation_p.S633L|RIN3_uc001yar.1_Missense_Mutation_p.S370L|RIN3_uc001yas.1_Missense_Mutation_p.S370L	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	708	Interaction with RAB5B.|VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.S708L(4)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AAGGATGGTTCGCTGCAGCAG	0.547000														200			56		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42683086	42683086	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42683086C>T	uc010ggo.3	+	4	839	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	TOX2_uc002xle.4_Nonsense_Mutation_p.Q225*|TOX2_uc010ggp.3_Nonsense_Mutation_p.Q225*|TOX2_uc002xlf.4_Nonsense_Mutation_p.Q276*|TOX2_uc010zwk.2_Nonsense_Mutation_p.Q145*	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CATCAAGGGTCAGAACCCCAG	0.562000														57			8		0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683038	71683038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71683038C>T	uc002fax.3	-	17	3733	c.3727G>A	c.(3727-3729)Ggc>Agc	p.G1243S	PHLPP2_uc002fav.3_Intron|PHLPP2_uc010cgf.3_Missense_Mutation_p.G1176S|PHLPP2_uc021tkv.1_5'Flank	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	1243						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACAATAGAGCCATTGGAGAGT	0.522000														97			6		0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67283854	67283854	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:67283854G>A	uc002jif.2	-	13	3159	c.1941C>T	c.(1939-1941)ccC>ccT	p.P647P	ABCA5_uc002jic.2_5'Flank|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Silent_p.P647P|ABCA5_uc002jih.2_Silent_p.P647P|ABCA5_uc010dfe.2_Silent_p.P647P	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	647	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GTCGAGAACAGGGGTCCATTC	0.413000														96			45		0	0	1	0	0
ANKRD6	22881	broad.mit.edu	37	6	90340157	90340157	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:90340157G>A	uc003pni.4	+	15	1959	c.1618G>A	c.(1618-1620)Gac>Aac	p.D540N	ANKRD6_uc003pne.4_Missense_Mutation_p.D535N|ANKRD6_uc003pnf.4_Missense_Mutation_p.D505N|ANKRD6_uc011dzy.2_Missense_Mutation_p.D540N|ANKRD6_uc010kcd.3_Missense_Mutation_p.D476N|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.4_Missense_Mutation_p.D136N	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN	Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.	540							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		ACCAGGTGTGGACCAATTAGT	0.507000														26			14		0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74354374	74354374	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:74354374C>T	uc003hhb.3	+	6	772	c.741C>T	c.(739-741)ttC>ttT	p.F247F		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	247	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCAAAAATTCCCCAAGATTG	0.363000														84			23		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184293694	184293694	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:184293694C>T	uc003foz.3	+	3	1370	c.933C>T	c.(931-933)acC>acT	p.T311T		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	311	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCCGTACCACCTCCCCAGCCG	0.617000														118			37		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156640282	156640282	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:156640282G>A	uc001fpq.3	-	3	3831	c.3698C>T	c.(3697-3699)cCt>cTt	p.P1233L	NES_uc021pbh.1_Missense_Mutation_p.P151L	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1233	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGAGGCCCAGGGGCATCTTC	0.637000														141			68		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171174688	171174688	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171174688C>T	uc001ghk.1	+	6	1215	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	FMO2_uc010pmd.1_Silent_p.L146L	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	366					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGTCAACCCTCGCGTGCATTG	0.448000														83			24		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46243472	46243472	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:46243472C>T	uc001ros.1	+	13	1825	c.1825C>T	c.(1825-1827)Cag>Tag	p.Q609*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q609*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q65*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q236*|ARID2_uc001rou.1_5'Flank	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	609					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACTTCCCATTCAGATGTACTA	0.438000			"""N, S, F"""		hepatocellular carcinoma									190			73		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227191	38227191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:38227191C>T	uc009vvi.3	-	2	822	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	EPHA10_uc001cbw.4_Missense_Mutation_p.G246R	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	246						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAGGCTCCCCTTCCGAGTGC	0.731000														31			4		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113562887	113562887	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:113562887C>T	uc022blv.1	+	14	2363	c.2229C>T	c.(2227-2229)gaC>gaT	p.D743D	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Silent_p.D654D|MUSK_uc022blu.1_Silent_p.D644D	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	743	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AAATTGCCGACTTTGGCCTCT	0.483000														161			67		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31374337	31374337	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31374337C>T	uc002ebt.3	+	12	1508	c.1441C>T	c.(1441-1443)Ccc>Tcc	p.P481S	ITGAX_uc002ebu.1_Missense_Mutation_p.P481S|ITGAX_uc010vfk.1_Missense_Mutation_p.P131S	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	481					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CATCGGGGCCCCCCATTACTA	0.677000														85			18		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8168563	8168563	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8168563C>T	uc002mjf.3	-	37	4839	c.4822G>A	c.(4822-4824)Gaa>Aaa	p.E1608K		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1608	EGF-like 25; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTGGAGCATTCGTCAATATCT	0.562000														35			13		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137038	126137038	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:126137038C>T	uc001uhe.1	+	7	1959	c.1951C>T	c.(1951-1953)Ctg>Ttg	p.L651L	TMEM132B_uc001uhf.1_Silent_p.L163L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	651						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)		GGTGATTGTCCTGGATGACCG	0.582000														40			8		0	0	1	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6522131	6522131	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:6522131G>A	uc001anh.3	-	8	963	c.875C>T	c.(874-876)cCt>cTt	p.P292L	TNFRSF25_uc001ana.3_Missense_Mutation_p.P100L|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_Missense_Mutation_p.P56L|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Missense_Mutation_p.P283L|TNFRSF25_uc001anf.3_Missense_Mutation_p.P246L|TNFRSF25_uc001ang.3_Missense_Mutation_p.P238L	NM_148965	NP_683866	Q93038	TNR25_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.	283					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGTAGCCAGGGGTCCAGCT	0.617000														78			22		0	0	1	0	0
BOP1	23246	broad.mit.edu	37	8	145512850	145512850	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145512850C>T	uc003zbr.1	-	1	303	c.235G>A	c.(235-237)Gag>Aag	p.E79K	HSF1_uc003zbt.4_5'Flank|HSF1_uc003zbu.4_5'Flank	NM_015201	NP_056016	Q14137	BOP1_HUMAN	Homo sapiens block of proliferation 1 (BOP1), mRNA.	79					cell proliferation|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	PeBoW complex|nucleoplasm	protein binding	p.D78N(1)		lung(1)|urinary_tract(2)	3	all_cancers(97;4.06e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;2.61e-39)|all cancers(56;1.37e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.087)			TCTCCCTCCTCGTCGCCTTCG	0.612000														98			25		0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62859106	62859106	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62859106G>A	uc002jey.2	-	9	3700	c.3084C>T	c.(3082-3084)ctC>ctT	p.L1028L	LRRC37A3_uc010wqg.1_Silent_p.L146L|LRRC37A3_uc002jex.1_Silent_p.L5L|LRRC37A3_uc010wqf.1_Silent_p.L66L|LRRC37A3_uc010dek.1_Silent_p.L34L	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1028						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TAAATTGGCAGAGGCAGCAGG	0.453000														217			96		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21641163	21641163	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:21641163C>T	uc003svc.3	+	17	3606	c.3575C>T	c.(3574-3576)cCt>cTt	p.P1192L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1192	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTTTGAACCTCTAAAAGAA	0.418000									Kartagener syndrome					35			5		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94700041	94700041	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94700041C>T	uc001ycs.1	+	5	722	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	190						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AGTCCAGTCTCGTTTAGTTAG	0.303000														111			39		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685415	248685415	+	Silent	SNP	C	T	T	rs146219175	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248685415C>T	uc001ien.1	+	0	468	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATCACCTCCCTAATTCAGT	0.577000														38			11		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48461415	48461415	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48461415G>A	uc003csw.2	-	10	2550	c.2280C>T	c.(2278-2280)tcC>tcT	p.S760S	PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Silent_p.S760S|PLXNB1_uc010hjx.1_Intron	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	760	Pro-rich.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCTGGGAGGGGAGGGCTCCT	0.657000														18			7		0	0	1	0	0
GCAT	23464	broad.mit.edu	37	22	38211196	38211196	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38211196C>T	uc003aua.2	+	4	781	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	GCAT_uc003atz.3_Silent_p.L214L	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	214					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CATCGCACCCCTGCAGGAGAT	0.602000														42			4		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419894	10419894	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10419894C>T	uc002gmo.3	-	2	160	c.66G>A	c.(64-66)agG>agA	p.R22R	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	22	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAATTCGCTCCCTTTCAGACT	0.507000														88			45		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12976259	12976259	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12976259G>A	uc002mvm.3	+	14	1896	c.1768G>A	c.(1768-1770)Gac>Aac	p.D590N		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	590	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTTCTTCGGAGACACACCAGA	0.587000														164			21		0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392033	178392033	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178392033C>T	uc003mjo.2	+	4	929	c.628C>T	c.(628-630)Cat>Tat	p.H210Y	ZNF454_uc010jkz.2_Missense_Mutation_p.H210Y|ZNF454_uc021yjc.1_Missense_Mutation_p.H210Y	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TCAGAAAATTCATATTAAGGA	0.358000														51			14		0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10477453	10477453	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:10477453C>T	uc001arc.3	+	9	1086	c.996C>T	c.(994-996)atC>atT	p.I332I	PGD_uc010oak.2_Silent_p.I310I	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	332					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CTTCCAAGATCATCTCTTACG	0.507000														188			71		0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409628	69409628	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:69409628C>T	uc002sfg.3	+	15	1545	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	397					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATTTTAGGTTCGTTGGGGAGA	0.413000									Familial Infantile Hemangioma					37			14		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132560846	132560846	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:132560846C>T	uc003kyn.1	-	9	1526	c.1308G>A	c.(1306-1308)aaG>aaA	p.K436K	FSTL4_uc003kym.1_Missense_Mutation_p.R43K	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	436						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTTACGGGTCTTTCTAGCTG	0.527000														64			30		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34004133	34004133	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:34004133G>A	uc003oir.4	-	7	2117	c.1754C>T	c.(1753-1755)tCg>tTg	p.S585L	GRM4_uc011dsn.2_Missense_Mutation_p.S538L|GRM4_uc010jvh.3_Missense_Mutation_p.S585L|GRM4_uc010jvi.3_Missense_Mutation_p.S277L|GRM4_uc003oio.3_Missense_Mutation_p.S277L|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.S445L|GRM4_uc003oiq.3_Missense_Mutation_p.S452L|GRM4_uc011dsm.2_Missense_Mutation_p.S416L	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	585					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGCCCAGGGCGAGCCCCACTC	0.637000														20			12		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15964870	15964870	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:15964870G>A	uc002gpo.3	-	36	5995	c.5726C>T	c.(5725-5727)cCt>cTt	p.P1909L	NCOR1_uc002gpn.3_Intron|NCOR1_uc002gpm.3_Missense_Mutation_p.P429L|NCOR1_uc010vwb.2_Missense_Mutation_p.P493L|NCOR1_uc010coy.3_Missense_Mutation_p.P817L|NCOR1_uc010vwc.2_Missense_Mutation_p.P719L	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1909	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTTTGGAGGAGGCCCTTTATC	0.463000														154			22		0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120389297	120389297	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:120389297C>T	uc003edw.3	-	3	719	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	87					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GGATCAACTTCATCCCAGTTG	0.423000														111			33		0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142586780	142586780	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:142586780C>T	uc011dbj.2	+	20	2041	c.2006C>T	c.(2005-2007)cCa>cTa	p.P669L	ARHGAP26_uc003lmt.3_Missense_Mutation_p.P669L|ARHGAP26_uc003lmw.3_Intron	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	669	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATCCAAGCCCAACTTCACCC	0.577000														116			31		0	0	1	0	0
LPAR5	57121	broad.mit.edu	37	12	6730144	6730144	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6730144C>T	uc009zer.2	-	1	552	c.271G>A	c.(271-273)Gac>Aac	p.D91N	LPAR5_uc001qps.2_Missense_Mutation_p.D91N|LPAR5_uc010sff.1_Missense_Mutation_p.D91N|LPAR5_uc021qub.1_Missense_Mutation_p.D91N	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN	Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.	91						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CACAGGAGGTCGGGGAAGGGC	0.612000														18			5		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56345295	56345295	+	Silent	SNP	C	T	T	rs149585110	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56345295C>T	uc002ivt.3	+	12	2395	c.2079C>T	c.(2077-2079)ttC>ttT	p.F693F	LPO_uc010wns.2_Silent_p.F634F|LPO_uc010dcp.3_Silent_p.F610F|LPO_uc010dcq.3_Silent_p.F364F|LPO_uc010dcr.3_Silent_p.F256F	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	693					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CCTATGACTTCGTGGATTGCT	0.567000														85			44		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196709789	196709789	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196709789C>T	uc002utj.4	-	46	8983	c.8882G>A	c.(8881-8883)cGa>cAa	p.R2961Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2961	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTCCAAGTTCGAATTGTCAC	0.363000														43			8		0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356487	55356487	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55356487C>T	uc010spd.1	-	8	1328	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	TESPA1_uc001sgl.3_Missense_Mutation_p.D261N|TESPA1_uc001sgm.3_Missense_Mutation_p.D146N|TESPA1_uc010spb.1_Missense_Mutation_p.D146N|TESPA1_uc010spc.1_Missense_Mutation_p.D261N|TESPA1_uc001sgn.3_Missense_Mutation_p.D399N	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	399																	CACTGTGGATCTTCTATGGGC	0.517000														103			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179535872	179535872	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179535872G>A	uc021vsy.1	-	150	31575	c.31350C>T	c.(31348-31350)atC>atT	p.I10450I	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I7111I|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11377	Glu-rich.|Pro-rich.						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)			TTTTTGGAGGGATGATTTTCT	0.353000														37			14		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140773318	140773318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140773318C>T	uc003lkd.2	+	0	1836	c.938C>T	c.(937-939)tCa>tTa	p.S313L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.S313L|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	314	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)			GAAGAATGTTCATTTTATGAA	0.358000														153			38		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2182194	2182194	+	Silent	SNP	C	T	T	rs1803766		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:2182194C>T	uc003zhc.3	+	30	4512	c.4413C>T	c.(4411-4413)gtC>gtT	p.V1471V	SMARCA2_uc003zhd.3_Silent_p.V1453V|SMARCA2_uc010mha.3_Silent_p.V1386V|SMARCA2_uc011llw.2_Silent_p.V157V|SMARCA2_uc011llx.2_Silent_p.V117V|SMARCA2_uc003zhe.3_Silent_p.V159V|SMARCA2_uc010mhb.3_Silent_p.V141V	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1471	Bromo.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding	p.L1470V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGAAGGATGTCATGCTTCTCT	0.443000														133			16		0	0	1	0	0
MSANTD2	79684	broad.mit.edu	37	11	124637768	124637768	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124637768G>A	uc001qba.1	-	3	1007	c.984C>T	c.(982-984)atC>atT	p.I328I	MSANTD2_uc001qaz.1_Silent_p.I276I|MSANTD2_uc010sap.1_Silent_p.I48I|MSANTD2_uc001qay.1_Silent_p.I98I	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN	Homo sapiens chromosome 11 open reading frame 61 (C11orf61), mRNA.	328																	AATGGTAACGGATATCCTCTT	0.468000														118			40		0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868352	97868352	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:97868352G>A	uc003dsg.1	+	0	123	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41W(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCATCATGGGGAATCTTGGTC	0.403000														281			101		0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90509483	90509483	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:90509483C>T	uc001xxy.3	+	16	2122	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Missense_Mutation_p.S608F|TDP1_uc010atn.3_3'UTR|TDP1_uc001xya.3_Missense_Mutation_p.S369F|TDP1_uc001xyb.3_Non-coding_Transcript	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	608					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGGGTGCCCTCCTGAGAATCT	0.423000								Repair of DNA-protein crosslinks						49			17		0	0	1	0	0
IL15RA	3601	broad.mit.edu	37	10	6002493	6002493	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:6002493C>T	uc021pmo.1	-	4	692	c.678G>A	c.(676-678)gcG>gcA	p.A226A	IL15RA_uc010qau.2_Silent_p.A107A|IL15RA_uc021pmp.1_Silent_p.A77A|IL15RA_uc001iiv.3_Silent_p.A140A|IL15RA_uc001iiw.3_Silent_p.A104A|IL15RA_uc001iiy.3_5'UTR	NM_001243539	NP_001230468	Q13261	I15RA_HUMAN	Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA.	140					cell proliferation	Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CTGTTGTGGCCGCTGTGTTGT	0.567000														38			19		0	0	1	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106710741	106710741	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:106710741G>A	uc003vdx.3	+	1	498	c.323G>A	c.(322-324)cGa>cAa	p.R108Q		NM_002736	NP_002727	P31323	KAP3_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA.	108	Dimerization and phosphorylation.				G2/M transition of mitotic cell cycle|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|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	p.R108*(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						GTAATAAACCGATTCACAAGG	0.313000														74			26		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48286164	48286164	+	Missense_Mutation	SNP	C	T	T	rs143647867	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:48286164C>T	uc010rht.2	+	0	752	c.752C>T	c.(751-753)cCt>cTt	p.P251L		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TTCTTCATACCTTGCTCCTTG	0.498000														139			20		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182007	57182007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:57182007G>A	uc003hbk.2	+	7	2730	c.2339G>A	c.(2338-2340)cGg>cAg	p.R780Q	KIAA1211_uc010iha.2_Missense_Mutation_p.R773Q|KIAA1211_uc011bzz.1_Missense_Mutation_p.R690Q|KIAA1211_uc003hbm.1_Missense_Mutation_p.R666Q	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	780										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAGATGCACCGGGAGCCCGCA	0.617000														73			23		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702720	30702720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:30702720C>T	uc003xil.3	-	0	3814	c.3814G>A	c.(3814-3816)Gat>Aat	p.D1272N		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1272										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACATTTGAATCTAAGACTGAT	0.343000														64			17		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087397	39087397	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:39087397G>A	uc011aej.1	-	2	116	c.63C>T	c.(61-63)gtC>gtT	p.V21V	KCNJ6_uc002ywo.2_Silent_p.V21V	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	21					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CTGGGCTTTCGACGTCCTGAT	0.517000														29			22		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400298	85400298	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:85400298G>A	uc002ble.3	+	5	3102	c.2935G>A	c.(2935-2937)Gag>Aag	p.E979K		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	979					heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.E978K(1)		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)			CAGATCTGAGGAGGCAGTAGT	0.542000														171			56		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070360	9070360	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9070360C>T	uc002mkp.3	-	2	17290	c.17086G>A	c.(17086-17088)Gag>Aag	p.E5696K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5698	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						GTCAGTCTCTCCTGTGTGGGG	0.502000														55			20		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152787119	152787119	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:152787119G>A	uc021zhb.1	-	14	1950	c.1727C>T	c.(1726-1728)tCa>tTa	p.S576L	SYNE1_uc003qot.4_Missense_Mutation_p.S583L|SYNE1_uc003qou.4_Missense_Mutation_p.S576L|SYNE1_uc010kjb.1_Missense_Mutation_p.S559L|SYNE1_uc003qpa.1_Missense_Mutation_p.S576L|SYNE1_uc003qox.1_Missense_Mutation_p.S92L|SYNE1_uc003qoz.2_Missense_Mutation_p.S8L|SYNE1_uc003qoy.2_Missense_Mutation_p.S143L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	576					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGTTTTACCTGAACCATCTGC	0.373000										HNSCC(10;0.0054)				27			22		0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009333	120009333	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:120009333C>T	uc011muc.2	-	0	447	c.192G>A	c.(190-192)gaG>gaA	p.E64E		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	64										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCTCACCCTCCTCCTCCCCGA	0.731000														41			30		0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18775224	18775224	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18775224C>T	uc002njz.1	+	1	264	c.237C>T	c.(235-237)gtC>gtT	p.V79V		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	79	BTB.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CACACAAGGTCGTCCTGGCTG	0.642000														122			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	89157152	89157152	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:89157152C>T	uc021vkt.1	-	299		c.10577G>A			abParts_uc002sti.1_Non-coding_Transcript|abParts_uc002stj.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TTCAACTGCTCATCAGATGGC	0.488000														12			6		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21689995	21689995	+	Missense_Mutation	SNP	C	T	T	rs142656537	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21689995C>T	uc001rfb.3	-	15	2260	c.2005G>A	c.(2005-2007)Gat>Aat	p.D669N		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	669					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTTCCTCATCGTATCTCTCA	0.483000														86			22		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530386	125530386	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:125530386G>A	uc010flu.3	+	16	2908	c.2544G>A	c.(2542-2544)gaG>gaA	p.E848E	CNTNAP5_uc002tno.3_Silent_p.E847E	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	847	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTCCTTCAGAGATCACCTTTG	0.488000														68			17		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563735	176563735	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176563735G>A	uc001gkz.3	+	2	2159	c.995G>A	c.(994-996)gGa>gAa	p.G332E	PAPPA2_uc001gky.1_Missense_Mutation_p.G332E|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	332					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AAGGACAAGGGAAAGCGGGAT	0.562000														62			15		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38959746	38959746	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38959746C>T	uc002oit.3	+	25	3652	c.3522C>T	c.(3520-3522)tcC>tcT	p.S1174S	RYR1_uc002oiu.3_Silent_p.S1174S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1174	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACTCAGGCTCCGAAACAGCCT	0.562000														65			24		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873421	91873421	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:91873421C>T	uc004efk.2	+	6	4371	c.3526C>T	c.(3526-3528)Cca>Tca	p.P1176S	PCDH11X_uc004efl.2_Missense_Mutation_p.P1166S|PCDH11X_uc010nmv.2_3'UTR|PCDH11X_uc004efm.2_Missense_Mutation_p.P1168S|PCDH11X_uc004efn.2_Missense_Mutation_p.P1158S|PCDH11X_uc004efo.2_Missense_Mutation_p.P1139S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	1176					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCACAGCCCACCACTGTCACA	0.567000														25			40		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423265	56423265	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56423265G>A	uc010ygg.2	-	4	1943	c.1918C>T	c.(1918-1920)Cac>Tac	p.H640Y		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	640							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGTAGGCAGTGAAAAAGTCGT	0.423000														79			40		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116241795	116241795	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116241795C>T	uc004bhq.3	+	4	649	c.440C>T	c.(439-441)gCc>gTc	p.A147V	RGS3_uc004bhr.3_Missense_Mutation_p.A35V|RGS3_uc004bhs.3_Missense_Mutation_p.P2S	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	147	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCATTGATGCCCAGGACCGG	0.577000														129			43		0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37709508	37709508	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37709508G>A	uc003arf.3	+	12	1257	c.1141G>A	c.(1141-1143)Gac>Aac	p.D381N	CYTH4_uc011amw.2_Missense_Mutation_p.D324N	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	381					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CCCCTTCTACGACCTGGTCTC	0.587000														91			13		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152861154	152861154	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:152861154C>T	uc021zhb.1	-	1	293	c.70G>A	c.(70-72)Gag>Aag	p.E24K	SYNE1_uc003qot.4_Missense_Mutation_p.E24K|SYNE1_uc003qou.4_Missense_Mutation_p.E24K|SYNE1_uc010kjb.1_Missense_Mutation_p.E24K|SYNE1_uc003qpa.1_Missense_Mutation_p.E24K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	24	Actin-binding.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCTCTTGCTCATCTAGAAGG	0.343000										HNSCC(10;0.0054)				48			25		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993665	140993665	+	Missense_Mutation	SNP	C	T	T	rs74966399		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140993665C>T	uc004fbt.3	+	3	799	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	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.	159							protein binding	p.P159S(2)		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)					TGAGGGTTTTCCCCAGTCTGT	0.488000										HNSCC(15;0.026)				65			87		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451962	138451962	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:138451962C>T	uc003ihe.4	-	0	1668	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K	PCDH18_uc003ihf.4_Silent_p.K420K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.K207K|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	427	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACTCAGATCTCTTTTCTCTAT	0.353000														111			44		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94049590	94049590	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94049590G>A	uc003ung.1	+	34	2596	c.2125G>A	c.(2125-2127)Gga>Aga	p.G709R	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	709			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)	tggtcctCGGGGAAGCCCTGT	0.453000										HNSCC(75;0.22)				99			12		0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75289544	75289544	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:75289544G>A	uc001juo.3	-	12	1971	c.1954C>T	c.(1954-1956)Ccc>Tcc	p.P652S	USP54_uc001juk.3_5'UTR|USP54_uc001jul.3_5'UTR|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Missense_Mutation_p.P652S|U6_uc021ptn.1_5'Flank|USP54_uc010qkl.1_Missense_Mutation_p.P652S	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	652					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ATTAGTCGGGGGTGCTGCTCT	0.557000											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		199			22		0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44432665	44432665	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:44432665C>T	uc001ckx.3	+	17	3382	c.2587C>T	c.(2587-2589)Cgt>Tgt	p.R863C	IPO13_uc001cky.3_Missense_Mutation_p.R81C	NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	863					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGAAGACGGTCGTATGCTGCT	0.612000														59			24		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69416525	69416525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69416525G>A	uc021xov.1	-	4	1226	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	395					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GCAAACAAGGGAATGCCCACC	0.458000														119			75		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105963467	105963467	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105963467G>A	uc001kxw.3	-	7	1174	c.1058C>T	c.(1057-1059)tCt>tTt	p.S353F	WDR96_uc001kxx.4_Missense_Mutation_p.S354F|WDR96_uc001kxy.1_Missense_Mutation_p.S354F|WDR96_uc001kxz.3_Missense_Mutation_p.S354F	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	353										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATAATTGGGAGAAAATGTCAT	0.313000														57			29		0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65396365	65396366	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65396365_65396366CC>TT	uc001oey.2	+	23	3887_3888	c.3887_3888CC>TT	c.(3886-3888)gcc>gTT	p.A1296V	PCNXL3_uc001oez.2_Missense_Mutation_p.A183V	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1296						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTAGGCAGTGCCGTCTTCATCA	0.634000														23			11		0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62126344	62126344	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62126344C>T	uc002yfe.1	-	3	601	c.435G>A	c.(433-435)gtG>gtA	p.V145V		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	145						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGAGCTGCTTCACACCCAGCG	0.622000														93			31		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62536530	62536530	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:62536530G>A	uc001xfu.1	+	1	930	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	SYT16_uc010tsd.1_Missense_Mutation_p.E245K	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	245										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATCTGCCTGCGAAGGTATCCT	0.483000														48			12		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40714389	40714389	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:40714389G>A	uc002xkg.3	-	27	4135	c.3951C>T	c.(3949-3951)ttC>ttT	p.F1317F	PTPRT_uc010ggj.3_Silent_p.F1336F|PTPRT_uc010ggi.3_Silent_p.F520F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1317	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TACAGATGCGGAATATTCTGT	0.587000														91			6		0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131186724	131186724	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:131186724G>A	uc003qch.2	-	16	2963	c.2781C>T	c.(2779-2781)acC>acT	p.T927T	EPB41L2_uc003qce.1_Silent_p.T305T|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc010kfl.2_Silent_p.T774T|EPB41L2_uc003qcg.1_Silent_p.T669T|EPB41L2_uc003qci.3_Silent_p.T774T|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_Silent_p.T88T	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	927	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CAGATGTGATGGTTTGTGCGG	0.458000														47			19		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159778947	159778947	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:159778947G>A	uc001fud.4	+	3	558	c.516G>A	c.(514-516)gaG>gaA	p.E172E	FCRL6_uc010pix.1_3'UTR|FCRL6_uc001fuc.2_Silent_p.E179E|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.3_Silent_p.E172E	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	172	Ig-like C2-type 2.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GAGCCAAGGAGGGAGACTCTG	0.627000														57			15		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11650885	11650885	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11650885G>A	uc002gne.3	+	31	6480	c.6412G>A	c.(6412-6414)Gag>Aag	p.E2138K	DNAH9_uc010coo.3_Missense_Mutation_p.E1432K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2138	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGTCCAGCTGGAGGAGCTCCT	0.582000														12			15		0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98941610	98941610	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:98941610C>T	uc001tfj.3	+	8	1634	c.1339C>T	c.(1339-1341)Cat>Tat	p.H447Y	TMPO_uc001tfl.3_Non-coding_Transcript|TMPO_uc001tfk.3_Missense_Mutation_p.H338Y	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN	Homo sapiens thymopoietin (TMPO), transcript variant 2, mRNA.	447						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TAATTTTCTTCATGTTGACCC	0.343000														115			51		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171154906	171154906	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:171154906G>A	uc001ghk.1	+	1	171	c.54G>A	c.(52-54)ctG>ctA	p.L18L	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	18					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAATTTCTCTGAAGTGCTGTG	0.463000														160			57		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702830	60702830	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60702830C>T	uc001nqi.3	+	9	2139	c.1946C>T	c.(1945-1947)tCg>tTg	p.S649L	TMEM132A_uc001nqj.3_Missense_Mutation_p.S648L	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	648	Binds to HSPA5/GRP78 (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ATGGGCATCTCGCTGACCTTG	0.662000														26			7		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12725999	12726000	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12725999_12726000CC>TT	uc001auf.3	+	3	477_478	c.477_478CC>TT	c.(475-480)tcccct>tcTTct	p.P160S		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	160						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		ACCACCATTCCCCTGCCCTTTT	0.525000														103			10		0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762792	53762792	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53762792C>T	uc002qbi.2	+	0	1248	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	388					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ATAGACGATTCTTTCATGATT	0.438000														100			38		0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110765834	110765834	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110765834C>T	uc009wfr.3	+	1	1713	c.927C>T	c.(925-927)ttC>ttT	p.F309F	KCNC4_uc001dzf.3_Silent_p.F309F|KCNC4_uc001dzh.3_Silent_p.F309F|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Silent_p.F309F	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	309					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGCTGGACTTCGTCAAGAACC	0.607000														76			23		0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65108826	65108826	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65108826G>A	uc002ant.2	-	11	1879	c.1813C>T	c.(1813-1815)Ccc>Tcc	p.P605S	PIF1_uc002anr.2_Missense_Mutation_p.P153S|PIF1_uc002ans.2_Missense_Mutation_p.P296S|PIF1_uc010uiq.1_Missense_Mutation_p.P605S	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	605	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						AGCACACGGGGGTCACAGCGA	0.657000														160			45		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033447	82033447	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:82033447G>A	uc002fgu.3	-	2	579	c.451C>T	c.(451-453)Cac>Tac	p.H151Y		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	151					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CGAGAGTAGTGATCAGGGTGG	0.507000														64			40		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121414281	121414281	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121414281C>T	uc001pxx.3	+	12	1839	c.1710C>T	c.(1708-1710)acC>acT	p.T570T		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	570					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AAGGGGAGACCTGGAAAACAT	0.458000														111			26		0	0	1	0	0
PUS7	54517	broad.mit.edu	37	7	105105785	105105785	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:105105785G>A	uc010lji.3	-	12	1628	c.1620C>T	c.(1618-1620)ttC>ttT	p.F540F	PUS7_uc003vcx.3_Silent_p.F534F|PUS7_uc003vcy.3_Silent_p.F534F|PUS7_uc003vcz.1_Silent_p.F534F	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	534	TRUD.				pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity	p.F534F(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						AGATAACATCGAAACCAGGCA	0.343000														46			17		0	0	1	0	0
ARL6	84100	broad.mit.edu	37	3	97503890	97503890	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:97503890C>T	uc003drv.3	+	5	659	c.346C>T	c.(346-348)Cca>Tca	p.P116S	ARL6_uc003drw.3_Non-coding_Transcript|ARL6_uc003dru.3_Missense_Mutation_p.P116S|ARL6_uc010hoy.3_Missense_Mutation_p.P116S	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN	Homo sapiens ADP-ribosylation factor-like 6 (ARL6), transcript variant 2, mRNA.	116					Wnt receptor signaling pathway|cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TCTGAATCATCCAGGTATGTG	0.343000														74			15		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1213673	1213673	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1213673C>T	uc003jbw.4	+	4	815	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	253					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.F253L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCATCGTCTTCCTCTTCACGC	0.652000														21			15		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92251698	92251698	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:92251698G>A	uc001xzu.4	-	10	1361	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	TC2N_uc001xzt.4_Silent_p.F390F|TC2N_uc010auc.3_Silent_p.F326F|TC2N_uc001xzv.4_Silent_p.F390F	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	390	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CCACCTTCACGAAAAAACCTA	0.323000														214			82		0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122247235	122247235	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122247235G>A	uc010hri.3	-	10	2686	c.2541C>T	c.(2539-2541)ttC>ttT	p.F847F	PARP9_uc003eff.4_Silent_p.F812F|PARP9_uc011bjs.2_Silent_p.F812F|PARP9_uc003efg.3_Silent_p.F392F|PARP9_uc003efi.3_Silent_p.F812F|PARP9_uc003efh.3_Silent_p.F847F	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	847	PARP catalytic.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TGCCACTTGCGAATCCCCTCC	0.448000														106			46		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167675260	167675260	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:167675260C>T	uc010jjd.3	+	26	7289	c.7289C>T	c.(7288-7290)tCc>tTc	p.S2430F	ODZ2_uc003lzr.4_Missense_Mutation_p.S2200F|ODZ2_uc003lzt.4_Missense_Mutation_p.S1803F|ODZ2_uc010jje.3_Missense_Mutation_p.S1694F	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)		CGATGGACCTCCCCAGACTAT	0.522000														40			14		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21036173	21036173	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:21036173G>A	uc001bdr.4	-	3	747	c.629C>T	c.(628-630)tCg>tTg	p.S210L	KIF17_uc001bds.4_Missense_Mutation_p.S210L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	210	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GATGGAGTGCGAGCGTGAGGA	0.592000														95			11		0	0	1	0	0
CT45A5	441521	broad.mit.edu	37	X	134947909	134947909	+	Missense_Mutation	SNP	C	T	T	rs143395460	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:134947909C>T	uc004eze.3	-	2	661	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	CT45A5_uc022ces.1_Missense_Mutation_p.R139Q|CT45A5_uc011mvu.2_Missense_Mutation_p.R139Q	NM_001007551	NP_001165759	Q6NSH3	CT455_HUMAN	Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA.	139								p.R139Q(4)		endometrium(1)|large_intestine(2)|lung(6)	9						CTACTTACTTCGTCCAAGGCA	0.388000														26			39		0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26509185	26509185	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:26509185C>T	uc003nif.4	+	6	1421	c.1364C>T	c.(1363-1365)cCc>cTc	p.P455L		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	455	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity	p.P455P(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TTCTCTGGCCCCCTCCGGCCC	0.478000														71			18		0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100159990	100159990	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:100159990G>A	uc001kpc.3	-	4	426	c.340C>T	c.(340-342)Cga>Tga	p.R114*	PYROXD2_uc001kpb.3_Non-coding_Transcript|PYROXD2_uc010qpe.2_Nonsense_Mutation_p.R114*	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	114							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TAGGGGTTTCGAAGATGAAGC	0.522000														44			20		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242082349	242082349	+	Silent	SNP	G	A	A	rs145347607		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242082349G>A	uc002wao.2	-	1	232	c.99C>T	c.(97-99)acC>acT	p.T33T	PASK_uc010zol.2_5'UTR|PASK_uc010zom.2_Silent_p.T33T|PASK_uc010fzl.2_Silent_p.T33T|PASK_uc010zon.2_Intron|PASK_uc021vzf.1_Silent_p.T33T|PASK_uc002waq.3_Silent_p.T33T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	33					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCTCAGCAGTGGTCTGTGCAG	0.597000														52			7		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289353	107289353	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:107289353G>A	uc011lvn.2	-	0	138	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGCTTGCTATGATCAGAACAC	0.433000														95			41		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277022	152277022	+	Missense_Mutation	SNP	C	T	T	rs138147945	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152277022C>T	uc001ezu.1	-	2	10376	c.10340G>A	c.(10339-10341)gGa>gAa	p.G3447E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3447	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAGTGGGATCCCTGCCTTCC	0.607000									Ichthyosis					398			177		0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9237432	9237432	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9237432G>A	uc010xkl.2	-	0	195	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S64S(1)		NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CCAAGGACAGGATAGAGAGGA	0.547000														95			48		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166870271	166870271	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166870271G>A	uc002udo.4	-	19	3915	c.3688C>T	c.(3688-3690)Ctt>Ttt	p.L1230F	SCN1A_uc010fpk.3_Missense_Mutation_p.L1202F|SCN1A_uc021vsb.1_Missense_Mutation_p.L1219F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1230						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCACTACTAAGGAGAATCATG	0.378000														66			25		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21967619	21967619	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21967619G>A	uc001rfh.3	-	32	4081	c.4061C>T	c.(4060-4062)tCg>tTg	p.S1354L	ABCC9_uc001rfi.1_Missense_Mutation_p.S1354L	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1354	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGAGATAACGATGATTTCCC	0.403000														92			10		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38997934	38997934	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38997934G>A	uc021yzh.1	+	92	13999	c.13890G>A	c.(13888-13890)cgG>cgA	p.R4630R	DNAH8_uc003ooe.2_Silent_p.R4413R	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGGACAGACGGAATGGGAAGC	0.488000											OREG0017409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		87			18		0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707809	50707809	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:50707809C>T	uc002egk.2	-	3	632	c.459G>A	c.(457-459)atG>atA	p.M153I	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	153	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	p.E152K(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GCTCACAGATCATCTCCTCAG	0.632000														31			10		0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40695469	40695469	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:40695469C>T	uc002lav.3	-	0	189	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	RIT2_uc010dnf.3_Missense_Mutation_p.E6K	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	6					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCTGGCTTCATTTTCTACC	0.517000														88			23		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165956930	165956930	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:165956930G>A	uc002ucx.3	-	21	4340	c.3848C>T	c.(3847-3849)tCt>tTt	p.S1283F	SCN3A_uc002ucy.3_Missense_Mutation_p.S1234F|SCN3A_uc002ucz.3_Missense_Mutation_p.S1234F|SCN3A_uc002uda.1_Missense_Mutation_p.S1103F|SCN3A_uc002udb.1_Missense_Mutation_p.S1103F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1283						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1283F(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GCTAACCAAAGAAACCTACAA	0.373000														34			7		0	0	1	0	0
CHMP7	91782	broad.mit.edu	37	8	23116264	23116264	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:23116264C>T	uc003xdc.2	+	7	1628	c.980C>T	c.(979-981)gCt>gTt	p.A327V	CHMP7_uc011kzs.1_Non-coding_Transcript|CHMP7_uc003xdd.2_Missense_Mutation_p.A217V|CHMP7_uc003xde.2_Missense_Mutation_p.A185V	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA.	327					cellular membrane organization|late endosome to vacuole transport	ESCRT III complex|cytosol	protein transporter activity	p.Q326Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GCCTACCAGGCTGGGGTAGGA	0.463000														29			7		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52322009	52322009	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:52322009C>T	uc003xqu.4	-	16	2276	c.2175G>A	c.(2173-2175)gcG>gcA	p.A725A	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	725					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGCGGTACTTCGCATGGAAAC	0.657000														40			7		0	0	1	0	0
PSAT1	29968	broad.mit.edu	37	9	80943007	80943007	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:80943007C>T	uc004ala.3	+	7	978	c.910C>T	c.(910-912)Cca>Tca	p.P304S	PSAT1_uc004alb.3_Intron	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	304					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	GATGAATATTCCATTCCGCAT	0.368000														39			12		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12941788	12941788	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12941788C>T	uc001aun.2	-	2	833	c.762G>A	c.(760-762)caG>caA	p.Q254Q		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	254										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTTCTTCTGCTCTGGGG	0.498000														240			100		0	0	1	0	0
C14orf119	55017	broad.mit.edu	37	14	23566952	23566953	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23566952_23566953CC>TT	uc021rqv.1	+	0	85_86	c.85_86CC>TT	c.(85-87)cct>TTt	p.P29F	ACIN1_uc001wit.4_5'Flank|ACIN1_uc010akg.3_5'Flank|ACIN1_uc010tnj.2_5'Flank|C14orf119_uc001wiu.3_Missense_Mutation_p.P29F	NM_017924	NP_060394	Q9NWQ9	CN119_HUMAN	Homo sapiens chromosome 14 open reading frame 119 (C14orf119), mRNA.	29										central_nervous_system(1)|endometrium(1)|lung(1)	3	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00649)		CCCTTCCCCTCCTCTGATGTCT	0.485000														201			82		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114296106	114296106	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:114296106G>A	uc004bff.2	+	3	813	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	ZNF483_uc011lwq.2_Missense_Mutation_p.E197K|ZNF483_uc004bfg.2_Missense_Mutation_p.E197K	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	197	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K196Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GCTATATAAGGAAGTGCTACT	0.398000														77			55		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91744422	91744422	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:91744422G>A	uc010aty.3	-	28	5056	c.4902C>T	c.(4900-4902)ccC>ccT	p.P1634P	CCDC88C_uc001xzj.3_Silent_p.P158P|CCDC88C_uc001xzi.3_Silent_p.P84P	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1634					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCCGAGGCAAGGGGTACTCGT	0.701000														12			7		0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124266334	124266334	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124266334G>A	uc001lgj.2	+	3	1033	c.905G>A	c.(904-906)cGa>cAa	p.R302Q		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	302	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ACCACCCAGCGAGGCGGCAAA	0.622000														72			27		0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122626202	122626202	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:122626202C>T	uc021pzt.1	+	7	1362	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A	WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	372						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATGCAGCCGCCCTCGTAGTGA	0.463000														104			44		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966963	39966963	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:39966963G>A	uc003ayc.3	+	0	206	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	CACNA1I_uc003ayd.3_Missense_Mutation_p.R69Q	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	69					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.R69W(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACCAGCCCCCGGAACTGGTGC	0.637000														127			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262588	140262588	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140262588C>T	uc003lif.2	+	0	735	c.735C>T	c.(733-735)tcC>tcT	p.S245S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.S245S|PCDHAC2_uc003lid.3_Silent_p.S245S	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	260	Cadherin 2.				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)			TTTACCAATCCGTTTATAAAG	0.453000														96			34		0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3487274	3487274	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3487274G>A	uc002cvd.3	-	3	609	c.425C>T	c.(424-426)tCt>tTt	p.S142F		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	Homo sapiens zinc finger protein 597 (ZNF597), mRNA.	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						AAGAATTTCAGAAAGTGTGTT	0.408000														127			32		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870120	4870120	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4870120G>A	uc010qyo.2	-	0	319	c.319C>T	c.(319-321)Cta>Tta	p.L107L		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCATCTGTAGAAGGCAGGCT	0.542000														95			21		0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34945064	34945064	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:34945064C>T	uc003jjb.3	+	7	1303	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L	DNAJC21_uc003jjc.3_Missense_Mutation_p.P359L|DNAJC21_uc010iuu.1_Missense_Mutation_p.P243L|DNAJC21_uc003jjd.3_5'Flank	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.	359	Glu-rich.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTTTCAAGACCTCAAATTGAT	0.358000														115			41		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186445073	186445073	+	Silent	SNP	G	A	A	rs142183659		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:186445073G>A	uc011bsa.2	+	4	846	c.612G>A	c.(610-612)acG>acA	p.T204T	KNG1_uc003fqr.3_Silent_p.T204T|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	204	Cystatin 2.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TTGTGCAAACGAATTGTTCCA	0.348000														97			16		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674183	4674183	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:4674183C>T	uc021qcq.1	+	0	427	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	OR51E1_uc001lzi.4_Missense_Mutation_p.R143C	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	142					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)		TACGTTGCCTCGTGTCACCAA	0.567000														72			33		0	0	1	0	0
LDLRAD2	401944	broad.mit.edu	37	1	22140990	22140991	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:22140990_22140991CC>TT	uc001bfg.1	+	1	372_373	c.185_186CC>TT	c.(184-186)acc>aTT	p.T62I		NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 2 (LDLRAD2), mRNA.	62						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GCTCCGGACACCGACTGCGGGC	0.728000														47			8		0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24773215	24773215	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24773215C>T	uc003xed.4	+	1	1211	c.1178C>T	c.(1177-1179)gCt>gTt	p.A393V	NEFM_uc011lac.1_Missense_Mutation_p.A393V|NEFM_uc010lue.3_Missense_Mutation_p.A17V	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	393	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GTCAAGATGGCTCTGGATATA	0.547000														37			22		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107131135	107131135	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:107131135C>T	uc021ser.1	-	78		c.3743G>A								Parts of antibodies, mostly variable regions.																		ATCGGCCCTTCACGGAGTCTG	0.522000														165			15		0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65124444	65124444	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:65124444G>A	uc001dbo.1	+	12	1791	c.1686G>A	c.(1684-1686)gtG>gtA	p.V562V	CACHD1_uc001dbp.1_Silent_p.V317V|CACHD1_uc001dbq.1_Silent_p.V317V	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	613					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AAATACCTGTGAAACAACTGA	0.448000														11			8		0	0	1	0	0
SPINK7	84651	broad.mit.edu	37	5	147693683	147693683	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:147693683G>A	uc003lpd.3	+	2	165	c.108G>A	c.(106-108)aaG>aaA	p.K36K	AK054753_uc003lpb.1_Intron	NM_032566	NP_115955	P58062	ISK7_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 7 (putative) (SPINK7), mRNA.	36	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATTTACAAGAAGTATCCAG	0.473000														167			67		0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76372213	76372213	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:76372213C>T	uc001oxq.4	-	2	667	c.424G>A	c.(424-426)Gag>Aag	p.E142K	LRRC32_uc001oxr.4_Missense_Mutation_p.E142K|LRRC32_uc010rsf.2_Missense_Mutation_p.E142K	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	142						integral to plasma membrane		p.E142*(2)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGCAGCCGCTCCAGCAGGCCG	0.687000														41			15		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027865	55027865	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:55027865G>A	uc002xxp.2	+	5	1858	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	CASS4_uc002xxq.4_Missense_Mutation_p.E545K|CASS4_uc010zze.1_Missense_Mutation_p.E491K|CASS4_uc002xxr.2_Missense_Mutation_p.E545K|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	545					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TTGGCCTCTGGAAGTTCTTGT	0.498000														54			23		0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52497354	52497354	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52497354G>A	uc002pyf.2	-	6	1325	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Silent_p.F325F|ZNF615_uc002pyh.2_Silent_p.F336F|ZNF615_uc010epi.2_Silent_p.F332F|ZNF615_uc002pyg.2_Silent_p.F217F|ZNF615_uc010ydg.2_Silent_p.F330F	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ACTTTGTAGAGAAGGCCTTCC	0.423000														163			18		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520434	52520434	+	Missense_Mutation	SNP	G	A	A	rs142884639	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:52520434G>A	uc001wzo.3	-	4	1526	c.1292C>T	c.(1291-1293)tCg>tTg	p.S431L	NID2_uc010tqs.2_Missense_Mutation_p.S431L|NID2_uc010tqt.1_Missense_Mutation_p.S431L|NID2_uc001wzp.3_Missense_Mutation_p.S431L	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	431						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ATCCATTTCCGAAGGCACTGG	0.537000														86			41		0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116046221	116046221	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:116046221C>T	uc001lbl.1	+	10	1842	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	VWA2_uc001lbk.1_Silent_p.F507F|VWA2_uc009xyf.1_Silent_p.F203F	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	507	VWFA 2.					extracellular region				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)		AGGATCTGTTCAACCAAATCC	0.627000														49			13		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766148	19766148	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19766148G>A	uc002nnh.4	-	10	1539	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	ATP13A1_uc002nnf.4_5'UTR|ATP13A1_uc002nng.3_Missense_Mutation_p.S386F	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	504					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGCGATGAGGGAGGTGTTGAC	0.637000														46			17		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55953808	55953808	+	Missense_Mutation	SNP	G	A	A	rs11540507		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:55953808G>A	uc003has.3	-	26	3930	c.3628C>T	c.(3628-3630)Ccc>Tcc	p.P1210S	KDR_uc003hat.1_Missense_Mutation_p.P1210S	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1210					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.P1210L(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)	TGGAATTTGGGGTCACATACT	0.507000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				58			17		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58551861	58551861	+	Silent	SNP	C	T	T	rs147151087		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58551861C>T	uc002qrc.1	+	3	661	c.414C>T	c.(412-414)ttC>ttT	p.F138F		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	138					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACTGGAGTTTCGGTGAGGAGG	0.612000														177			10		0	0	1	0	0
REG3G	130120	broad.mit.edu	37	2	79253856	79253856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:79253856G>A	uc002snw.3	+	2	179	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	REG3G_uc002snx.3_Missense_Mutation_p.E32K|REG3G_uc010ffu.3_Missense_Mutation_p.E32K	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA.	32					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AACCCAGAAGGAACTGCCCTC	0.532000														49			20		0	0	1	0	0
C1orf150	148823	broad.mit.edu	37	1	247737544	247737544	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247737544G>A	uc001idf.3	+	4	415	c.268G>A	c.(268-270)Gag>Aag	p.E90K	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	90										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGATGGCTATGAGAACATTGA	0.458000														70			25		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108383994	108383994	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:108383994G>A	uc001pkk.3	-	5	2351	c.2240C>T	c.(2239-2241)tCc>tTc	p.S747F	EXPH5_uc010rvz.2_Missense_Mutation_p.S591F|EXPH5_uc010rvy.2_Missense_Mutation_p.S559F	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	747					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGAGTCCTGGGATAAGGGATT	0.423000														87			42		0	0	1	0	0
PTHLH	5744	broad.mit.edu	37	12	28116336	28116336	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:28116336G>A	uc001rik.3	-	2	772	c.469C>T	c.(469-471)Cta>Tta	p.L157L	PTHLH_uc001ril.3_Silent_p.L157L|PTHLH_uc001rim.3_Silent_p.L157L|PTHLH_uc001rin.3_Silent_p.L157L	NM_198966	NP_945317	P12272	PTHR_HUMAN	Homo sapiens parathyroid hormone-like hormone (PTHLH), transcript variant 4, mRNA.	157					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					TCCCCTTCTAGCCCACTCCCA	0.572000														55			24		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38952011	38952011	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38952011G>A	uc021yzh.1	+	86	13090	c.12981G>A	c.(12979-12981)atG>atA	p.M4327I	DNAH8_uc003ooe.2_Missense_Mutation_p.M4110I|DNAH8_uc003oog.1_Missense_Mutation_p.M559I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCGGTACATGATCGGAGAAG	0.343000														85			16		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101051255	101051255	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:101051255C>T	uc003yjb.1	-	13	2265	c.2070G>A	c.(2068-2070)tgG>tgA	p.W690*	RGS22_uc003yja.1_Nonsense_Mutation_p.W509*|RGS22_uc003yjc.1_Nonsense_Mutation_p.W678*|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Nonsense_Mutation_p.W594*|RGS22_uc022azf.1_Nonsense_Mutation_p.W79*	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	690					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CACTGTTCTTCCACAACTACA	0.353000														37			13		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169783678	169783678	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169783678C>G	uc002ueo.1	-	25	3732	c.3606G>C	c.(3604-3606)atG>atC	p.M1202I	ABCB11_uc010zda.1_Missense_Mutation_p.M620I|ABCB11_uc010zdb.1_Missense_Mutation_p.M678I	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1202	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTGGGAGTGACATGACAAAAT	0.453000														181			18		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102337651	102337651	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:102337651C>T	uc003pqp.4	+	10	1954	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	GRIK2_uc003pqn.3_Missense_Mutation_p.S554F|GRIK2_uc010kcw.3_Missense_Mutation_p.S554F|GRIK2_uc003pqo.4_Missense_Mutation_p.S554F|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	554					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)	GGCGTCTTCTCCTTCCTGAAT	0.458000														121			58		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076695	9076695	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9076695G>A	uc002mkp.3	-	2	10955	c.10751C>T	c.(10750-10752)tCt>tTt	p.S3584F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3585	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						AGCTGTGGAAGACCAGGTGGA	0.493000														69			27		0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799190	45799190	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:45799190C>T	uc001jcc.1	-	3	990	c.681G>A	c.(679-681)gtG>gtA	p.V227V	OR13A1_uc001jcd.1_Silent_p.V223V|OR13A1_uc021ppq.1_Silent_p.V227V	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TCAGGAAGTTCACTATGCCGT	0.552000														78			20		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122001066	122001066	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122001066A>T	uc003eew.4	+	5	2183	c.1745A>T	c.(1744-1746)gAg>gTg	p.E582V	CASR_uc003eev.4_Missense_Mutation_p.E572V	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	572			C -> F (in FHH).|C -> Y (in NSHPT).		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)	CCTGATGGGGAGTATAGTGAT	0.597000														66			29		0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75013558	75013558	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:75013558G>A	uc002ayp.4	-	4	1270	c.1148C>T	c.(1147-1149)cCc>cTc	p.P383L	CYP1A1_uc010bjy.3_Missense_Mutation_p.P383L|CYP1A1_uc010bju.3_Missense_Mutation_p.P119L|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Missense_Mutation_p.P119L|CYP1A1_uc002ayq.4_Missense_Mutation_p.P383L|CYP1A1_uc010bjz.1_Missense_Mutation_p.P119L	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	383					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GATGGTGAAGGGGACGAAGGA	0.577000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					147			44		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38139114	38139114	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38139114G>A	uc003chp.1	+	16	2572	c.2551G>A	c.(2551-2553)Gag>Aag	p.E851K	DLEC1_uc003cho.1_Missense_Mutation_p.E851K|DLEC1_uc010hgv.1_Missense_Mutation_p.E851K|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	851					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTTACACATTGAGGCTGTCTT	0.602000														31			23		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033749	82033749	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:82033749C>T	uc002fgu.3	-	2	277	c.149G>A	c.(148-150)gGa>gAa	p.G50E		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	50					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						AAACTTGATTCCTTCTGGAAT	0.463000														138			39		0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53932330	53932330	+	Missense_Mutation	SNP	G	A	A	rs141793483	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:53932330G>A	uc001cvq.1	+	3	1079	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	342					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GGAGCAGTCCGACTAGGCCCC	0.567000														199			96		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497178	1497178	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:1497178C>T	uc003wpl.3	+	1	416	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	DLGAP2_uc003wpm.3_Missense_Mutation_p.R107C	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	186					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CAAGATCAACCGCATCCCGGC	0.682000														13			11		0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51503798	51503798	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51503798C>T	uc002puq.1	-	2	433	c.247G>A	c.(247-249)Gag>Aag	p.E83K	KLK9_uc002puw.1_Non-coding_Transcript|KLK8_uc002pur.1_Missense_Mutation_p.E38K|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.E38K|KLK8_uc002puv.1_Intron	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	38	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GGTTGGCACTCATGACCCCCC	0.637000														83			30		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90025464	90025464	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:90025464C>T	uc003kju.3	+	49	10528	c.10432C>T	c.(10432-10434)Cag>Tag	p.Q3478*	GPR98_uc003kjt.3_Nonsense_Mutation_p.Q1184*|GPR98_uc003kjv.3_Nonsense_Mutation_p.Q1078*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3478					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGCAGGAGATCAGAATTCAAT	0.303000														21			5		0	0	1	0	0
SVOP	55530	broad.mit.edu	37	12	109309618	109309618	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:109309618G>A	uc010sxh.1	-	14	1391	c.1219C>T	c.(1219-1221)Ctg>Ttg	p.L407L		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	Homo sapiens SV2 related protein homolog (rat) (SVOP), mRNA.	461						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						CAGGTGCCCAGGCCGAGGGCC	0.622000														20			3		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19067962	19067962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19067962C>T	uc002dfp.2	+	13	2100	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F	TMC7_uc002dfq.3_Missense_Mutation_p.S657F|TMC7_uc010vap.2_Missense_Mutation_p.S547F	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	657						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TCGCTGCAGTCCTTCATCCAT	0.557000														89			40		0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	723306	723306	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:723306C>T	uc001lqt.3	+	14	1654	c.1407C>T	c.(1405-1407)acC>acT	p.T469T	EPS8L2_uc001lqu.3_Silent_p.T469T|EPS8L2_uc010qwk.2_Silent_p.T485T|EPS8L2_uc001lqv.3_Silent_p.T424T|EPS8L2_uc001lqw.3_Silent_p.T81T|EPS8L2_uc001lqx.3_Silent_p.T81T|EPS8L2_uc001lqy.3_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	469						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGAGCCCACCCCCCCGGGGG	0.582000											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		71			23		0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90651043	90651043	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:90651043G>A	uc001xye.1	+	1	1365	c.923G>A	c.(922-924)cGa>cAa	p.R308Q		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	308						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GGACTCTTGCGATCACGCAGG	0.572000														77			38		0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332827	100332827	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:100332827G>A	uc021sxl.1	-	1		c.326C>T			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		TGACTACAACGAGGGACACAG	0.612000														112			14		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25255689	25255689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:25255689G>A	uc003abg.2	+	8	965	c.808G>A	c.(808-810)Gac>Aac	p.D270N	SGSM1_uc010guu.1_Missense_Mutation_p.D270N|SGSM1_uc003abh.2_Missense_Mutation_p.D270N|SGSM1_uc003abj.2_Missense_Mutation_p.D270N|SGSM1_uc003abi.1_Missense_Mutation_p.D245N|SGSM1_uc003abf.2_Missense_Mutation_p.D270N	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	270						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCAGAGGGACGACATGGAGGC	0.562000														57			20		0	0	1	0	0
SPRY1	10252	broad.mit.edu	37	4	124323283	124323283	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:124323283C>T	uc003ifa.3	+	1	724	c.537C>T	c.(535-537)ttC>ttT	p.F179F	SPRY1_uc003ifb.3_Silent_p.F179F|SPRY1_uc021xro.1_Silent_p.F179F	NM_199327	NP_955359	O43609	SPY1_HUMAN	Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA.	179					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AGCACAAGTTCATTTGTGAAC	0.527000														71			34		0	0	1	0	0
RTP1	132112	broad.mit.edu	37	3	186917640	186917640	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:186917640G>A	uc003frg.3	+	1	604	c.574G>A	c.(574-576)Gag>Aag	p.E192K		NM_153708	NP_714919	P59025	RTP1_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.	192					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AGAGTTCTGCGAGGCCTGCCA	0.701000														32			12		0	0	1	0	0
SH2D7	646892	broad.mit.edu	37	15	78393813	78393813	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:78393813C>T	uc010blb.1	+	4	1218	c.1218C>T	c.(1216-1218)atC>atT	p.I406I		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	Homo sapiens SH2 domain containing 7 (SH2D7), mRNA.	406										endometrium(2)|kidney(2)|lung(3)	7						ACAAGAGGATCTCAGGGACCC	0.592000														24			6		0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56276946	56276946	+	Missense_Mutation	SNP	G	A	A	rs149447728		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56276946G>A	uc002ivq.3	+	8	1447	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	443					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GGCAAGGCCCGGGCCAGGAGA	0.597000														48			37		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15448386	15448386	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:15448386G>A	uc002rcc.1	-	39	4777	c.4751C>T	c.(4750-4752)gCc>gTc	p.A1584V	NBAS_uc010exl.1_Missense_Mutation_p.A656V|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1584										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGCCAATCGGGCATAGATCTG	0.473000														42			16		0	0	1	0	0
KIAA1704	55425	broad.mit.edu	37	13	45580398	45580398	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:45580398C>T	uc001uzq.3	+	2	386	c.283C>T	c.(283-285)Ctt>Ttt	p.L95F	KIAA1704_uc010tfo.1_Non-coding_Transcript|KIAA1704_uc001uzr.1_Missense_Mutation_p.L95F|KIAA1704_uc001uzs.3_5'UTR|KIAA1704_uc001uzt.3_5'UTR	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	Homo sapiens KIAA1704 (KIAA1704), mRNA.	95										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		TGGACCAGCCCTTCCTCCTGG	0.333000														255			67		0	0	1	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110463606	110463607	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:110463606_110463607GG>AA	uc001tpx.3	+	7	1120_1121	c.861_862GG>AA	c.(859-864)gaggag>gaAAag	p.E288K	ANKRD13A_uc009zvl.1_Non-coding_Transcript|ANKRD13A_uc010sxw.2_Missense_Mutation_p.E288K|ANKRD13A_uc001tpy.3_5'UTR|ANKRD13A_uc001tpz.3_5'Flank	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	Homo sapiens ankyrin repeat domain 13A (ANKRD13A), mRNA.	288										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						ATCTGACCGAGGAGGAAAAAAA	0.411000														95			43		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77406945	77406945	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:77406945G>A	uc021sqy.1	-	7	5370	c.4794C>T	c.(4792-4794)ctC>ctT	p.L1598L		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1598	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TCTCATAGATGAGGATGCCTG	0.542000														87			32		0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79733273	79733273	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:79733273C>T	uc003kgr.4	+	3	1071	c.769C>T	c.(769-771)Cat>Tat	p.H257Y	ZFYVE16_uc010jak.2_Missense_Mutation_p.H257Y|ZFYVE16_uc003kgp.3_Missense_Mutation_p.H257Y|ZFYVE16_uc003kgq.4_Missense_Mutation_p.H257Y|ZFYVE16_uc003kgs.4_Missense_Mutation_p.H257Y	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	257					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CAAAATGTTTCATGCCAAAGA	0.353000														94			26		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156929952	156929952	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156929952C>T	uc003lwz.3	-	11	1246	c.1167G>A	c.(1165-1167)agG>agA	p.R389R	ADAM19_uc003lww.2_Silent_p.R122R|ADAM19_uc003lwy.3_5'UTR|ADAM19_uc011ddr.1_Silent_p.R320R	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	389	Peptidase M12B.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAGCTCCCTCCTGTTGCATC	0.552000														81			38		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861992	52861992	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:52861992G>A	uc003gzi.3	-	3	1203	c.1196C>T	c.(1195-1197)cCt>cTt	p.P399L		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	399						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTCAACATAAGGCCTTGTGAA	0.547000														68			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107083553	107083553	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:107083553G>A	uc021ser.1	-	130		c.5617C>T								Parts of antibodies, mostly variable regions.																		CCTGGGACAGGACCCCTGTGA	0.602000														46			15		0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112185104	112185104	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:112185104C>T	uc009zvx.3	+	16	2693	c.2493C>T	c.(2491-2493)gcC>gcT	p.A831A	ACAD10_uc001tsp.3_Silent_p.A800A|ACAD10_uc001tsq.3_Silent_p.A800A|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.	800							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						CTCAGGTTGCCTCTTCAGATG	0.542000														57			40		0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43269342	43269343	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43269342_43269343GG>AA	uc021yzt.1	+	6	1072_1073	c.973_974GG>AA	c.(973-975)ggg>AAg	p.G325K	SLC22A7_uc010jyl.1_Missense_Mutation_p.G326K|SLC22A7_uc003ous.3_Missense_Mutation_p.G323K|SLC22A7_uc003out.3_Missense_Mutation_p.G323K	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	325						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.G325W(4)|p.A324T(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			AGTGGCCGCCGGGGAACGGGTG	0.589000														35			19		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	89495565	89495565	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:89495565G>A	uc021vkt.1	-	30		c.3375_splice	c.e30+1		abParts_uc021vku.1_Intron					Parts of antibodies, mostly variable regions.																		AGCACTGTGGGAGGATCTTGT	0.532000														44			23		0	0	1	0	0
CHST13	166012	broad.mit.edu	37	3	126261247	126261247	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:126261247C>T	uc003eja.3	+	2	897	c.852C>T	c.(850-852)tcC>tcT	p.S284S		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 13 (CHST13), mRNA.	284					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CGGGCGCATCCGACCTGAGCT	0.746000														7			5		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238272008	238272008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:238272008C>T	uc002vwl.2	-	13	6236	c.5951G>A	c.(5950-5952)cGa>cAa	p.R1984Q	COL6A3_uc002vwo.2_Missense_Mutation_p.R1778Q|COL6A3_uc010znj.1_Missense_Mutation_p.R1377Q	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1984	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTGACCACTCGTTCAAGGCC	0.478000														69			16		0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101534	81101534	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:81101534C>T	uc001szf.2	+	0	127	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	12					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GCTCCTATTTCTTCTACTTGG	0.493000														88			36		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124351444	124351444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124351444G>A	uc003ehg.3	+	34	5481	c.5354G>A	c.(5353-5355)gGa>gAa	p.G1785E	KALRN_uc003ehi.3_Missense_Mutation_p.G158E|KALRN_uc003ehk.3_Missense_Mutation_p.G88E|KALRN_uc003ehj.2_Missense_Mutation_p.G88E	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1785					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AAGGCAGATGGAAACATCAAA	0.552000														82			47		0	0	1	0	0
LETM1	3954	broad.mit.edu	37	4	1836644	1836644	+	Silent	SNP	G	A	A	rs144059275	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:1836644G>A	uc003gdv.3	-	4	1101	c.804C>T	c.(802-804)atC>atT	p.I268I	LETM1_uc010icc.3_Silent_p.I48I|LETM1_uc011bvg.2_Silent_p.I268I	NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	268	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CCATCTCCTCGATGGTGTCCT	0.562000														69			22		0	0	1	0	0
PRAMEF8	391002	broad.mit.edu	37	1	12979817	12979817	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12979817G>A	uc001aup.3	+	3	1092	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	337												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCAGCCCTGAGCCCCTCAC	0.582000														99			10		0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	129209148	129209148	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:129209148C>T	uc010qun.2	+	42	4452	c.4388C>T	c.(4387-4389)cCa>cTa	p.P1463L	DOCK1_uc001ljt.3_Missense_Mutation_p.P1442L|DOCK1_uc009yaq.3_Missense_Mutation_p.P437L	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1442	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TATTCTCGGCCAATCCGGAAG	0.408000														29			11		0	0	1	0	0
PLAU	5328	broad.mit.edu	37	10	75676148	75676148	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:75676148G>A	uc001jwa.3	+	11	1266	c.1120_splice	c.e11-1	p.G374_splice	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Splice_Site_p.G357_splice|PLAU_uc010qkx.2_Splice_Site_p.G288_splice|PLAU_uc001jwb.3_Splice_Site|PLAU_uc001jwc.3_Splice_Site_p.G374_splice|PLAU_uc009xrq.1_Splice_Site_p.G338_splice	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	374	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	GCGTCACAGGGAGACTCAGGG	0.557000														20			5		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437486	120437486	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:120437486C>T	uc001eij.3	-	0	1662	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	492	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CAACGGCCTTCATACTTGCAA	0.488000														44			26		0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12815753	12815753	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12815753G>A	uc001auh.3	+	1	431	c.215G>A	c.(214-216)aGg>aAg	p.R72K	C1orf158_uc010obe.1_Missense_Mutation_p.R72K	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA.	72										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TATGGGAAGAGGAAAGTTGAG	0.527000														36			18		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96702033	96702033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96702033G>A	uc001kka.4	+	2	441	c.416G>A	c.(415-417)aGg>aAg	p.R139K	CYP2C9_uc009xut.3_Missense_Mutation_p.R139K|CYP2C9_uc001kjz.3_Missense_Mutation_p.R139K	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	139					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	ATGGGGAAGAGGAGCATTGAG	0.498000														105			50		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11648272	11648272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:11648272C>T	uc002gne.3	+	30	6338	c.6270C>T	c.(6268-6270)ttC>ttT	p.F2090F	DNAH9_uc010coo.3_Silent_p.F1384F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2090					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCCCATCTTCATGGGCCTGA	0.572000														23			19		0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62659058	62659058	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62659058C>T	uc002yho.3	+	16	2476	c.2308C>T	c.(2308-2310)Cgt>Tgt	p.R770C	PRPF6_uc002yhp.3_Missense_Mutation_p.R730C	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	770					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GGAAAAGTCTCGTCTGAAGAA	0.607000														145			58		0	0	1	0	0
AX747417	0	broad.mit.edu	37	3	95374429	95374429	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:95374429G>A	uc003dro.1	-	4		c.1433C>T								Homo sapiens cDNA FLJ34909 fis, clone NT2RI2009301, moderately similar to BIFUNCTIONAL METHYLENETETRAHYDROFOLATE DEHYDROGENASE/CYCLOHYDROLASE, MITOCHONDRIAL PRECURSOR.																		AAGCATTGCAGATCTTTCTCT	0.398000														90			23		0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74548880	74548880	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:74548880G>A	uc003dpm.1	-	1	192	c.112C>T	c.(112-114)Cct>Tct	p.P38S		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	38	Ig-like C2-type 1.				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)		GAACCAACAGGGAAAATGCTG	0.363000														125			11		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6266847	6266847	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:6266847C>T	uc003mwv.3	-	3	638	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	F13A1_uc011dib.2_Missense_Mutation_p.R109Q	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	172					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R172Q(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCGACTGGTTCGAAGTACGCC	0.458000														110			55		0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10911968	10911968	+	Silent	SNP	G	A	A	rs142569799	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:10911968G>A	uc002ras.3	+	6	583	c.474G>A	c.(472-474)ggG>ggA	p.G158G	ATP6V1C2_uc002rat.3_Silent_p.G158G	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	158					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CTTTTAGGGGGAACCTCTTCA	0.537000														128			63		0	0	1	0	0
CALB2	794	broad.mit.edu	37	16	71408680	71408680	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:71408680G>A	uc002faa.4	+	2	284	c.204G>A	c.(202-204)atG>atA	p.M68I	CALB2_uc010vme.2_Non-coding_Transcript|CALB2_uc002fac.4_Missense_Mutation_p.M68I	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	68	EF-hand 2.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GAGAAAAGATGAAGGAGTTCA	0.478000														50			16		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167674013	167674013	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:167674013G>A	uc010jjd.3	+	26	6042	c.6042G>A	c.(6040-6042)ggG>ggA	p.G2014G	ODZ2_uc003lzr.4_Silent_p.G1784G|ODZ2_uc003lzt.4_Silent_p.G1387G|ODZ2_uc010jje.3_Silent_p.G1278G	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)		ACAAGTATGGGAAACTCTCCA	0.507000														85			35		0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7866409	7866409	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:7866409G>A	uc002wmw.1	-	5	940	c.916C>T	c.(916-918)Ctt>Ttt	p.L306F	HAO1_uc010gbu.3_Missense_Mutation_p.L306F	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	306	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTGGCGCCAAGAGCCAGAGCT	0.488000														185			63		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5674779	5674779	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:5674779G>A	uc001qnm.2	-	24	2744	c.2672C>T	c.(2671-2673)tCg>tTg	p.S891L		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	896						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.S892L(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GTACTGTTTCGAAAACTCATA	0.502000														7			5		0	0	1	0	0
KCTD9	54793	broad.mit.edu	37	8	25298174	25298174	+	Missense_Mutation	SNP	G	A	A	rs143658803	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:25298174G>A	uc003xeo.3	-	3	452	c.230C>T	c.(229-231)tCt>tTt	p.S77F	DOCK5_uc003xek.3_Intron	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 9 (KCTD9), mRNA.	77	KHA.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		AGGAGGCTTAGAATCTGTCTG	0.393000														53			28		0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23396742	23396742	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23396742G>A	uc001whm.1	-	3	534	c.443C>T	c.(442-444)tCt>tTt	p.S148F	PRMT5_uc001whl.1_Missense_Mutation_p.S131F|PRMT5_uc010tnf.1_Missense_Mutation_p.S42F|PRMT5_uc010tnh.1_Missense_Mutation_p.S104F|PRMT5_uc010tng.1_Missense_Mutation_p.S87F|PRMT5_uc001whn.1_Intron|TRNA_uc021rqs.1_5'Flank|TRNA_uc021rqt.1_5'Flank	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	148					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TACCATGGAAGAGTGATGGCC	0.488000														55			23		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936890	15936890	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:15936890C>T	uc003jfn.1	+	3	1552	c.1071C>T	c.(1069-1071)atC>atT	p.I357I		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	357					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.I357I(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ACCTGAGCATCGCGCACTGCG	0.672000														20			6		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66423280	66423280	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:66423280G>A	uc002eom.4	+	4	792	c.636G>A	c.(634-636)acG>acA	p.T212T	CDH5_uc002eon.1_Silent_p.T212T	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	212	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TCACAATAACGAAAAGCTTGG	0.567000														65			26		0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669428	80669428	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:80669428G>A	uc021rxa.1	-	2	587	c.534C>T	c.(532-534)gcC>gcT	p.A178A	DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Silent_p.A142A|DIO2_uc010asy.3_Silent_p.A142A	NM_001007023		Q92813	IOD2_HUMAN	Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA.	142					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.A178A(1)|p.A142A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GTTTGCGGAAGGCTGGCAGCT	0.572000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			5		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41550202	41550202	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:41550202C>T	uc003xok.3	-	30	3906	c.3822G>A	c.(3820-3822)gaG>gaA	p.E1274E	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.E590E|ANK1_uc003xoi.3_Silent_p.E1274E|ANK1_uc003xoj.3_Silent_p.E1274E|ANK1_uc003xol.3_Silent_p.E1274E|ANK1_uc003xom.3_Silent_p.E1315E	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1274					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCACGAAGTTCTCATGCTGCT	0.577000														326			114		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105831820	105831820	+	Nonsense_Mutation	SNP	G	A	A	rs121912774		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105831820G>A	uc001kxr.3	-	7	602	c.433C>T	c.(433-435)Cga>Tga	p.R145*	COL17A1_uc010qqv.1_Nonsense_Mutation_p.R129*|COL17A1_uc009xxp.1_Nonsense_Mutation_p.R145*	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	145	Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTCTGCAGTCGAACTCGAATT	0.488000														36			23		0	0	1	0	0
DMKN	93099	broad.mit.edu	37	19	35993773	35993773	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35993773G>A	uc002nzm.4	-	9	1333	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S	DMKN_uc002nzi.4_5'Flank|DMKN_uc002nzj.3_Missense_Mutation_p.P58S|DMKN_uc002nzl.4_Missense_Mutation_p.P97S|DMKN_uc002nzk.4_Missense_Mutation_p.P31S|DMKN_uc002nzo.4_Missense_Mutation_p.P373S|DMKN_uc002nzn.4_Missense_Mutation_p.P343S|DMKN_uc002nzu.2_Missense_Mutation_p.P31S|DMKN_uc002nzv.2_Missense_Mutation_p.P31S|DMKN_uc002nzw.2_Missense_Mutation_p.P40S|DMKN_uc002nzq.2_Missense_Mutation_p.P60S|DMKN_uc002nzp.2_Missense_Mutation_p.P78S|DMKN_uc002nzr.2_Missense_Mutation_p.P40S|DMKN_uc002nzs.2_Missense_Mutation_p.P31S|DMKN_uc002nzt.2_Missense_Mutation_p.P31S|DMKN_uc010xsw.2_Missense_Mutation_p.P80S|DMKN_uc010xsv.1_Missense_Mutation_p.P31S	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	Homo sapiens dermokine (DMKN), transcript variant 2, mRNA.	384						extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGGGTGCTGGGGGGCGGGACC	0.622000														44			18		0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60785320	60785320	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:60785320C>T	uc001nqq.3	+	10	1897	c.1672C>T	c.(1672-1674)Ccg>Tcg	p.P558S	CD6_uc001nqp.3_Missense_Mutation_p.P558S|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.P526S|CD6_uc001nqt.3_Missense_Mutation_p.P517S	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	558					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	p.H557Y(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCAGTATCACCCGAGGAGCAA	0.552000														84			35		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005808	74005808	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74005808C>T	uc010wss.1	-	21	3772	c.3544G>A	c.(3544-3546)Gag>Aag	p.E1182K	EVPL_uc002jqi.2_Missense_Mutation_p.E1160K|EVPL_uc010wst.1_Missense_Mutation_p.E630K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1160	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCTCCTCCTCGAGGAGGCTC	0.622000														39			19		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9370586	9370586	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9370586T>C	uc021wam.1	+	12	1234	c.1219T>C	c.(1219-1221)Tcc>Ccc	p.S407P	PLCB4_uc010gbw.1_Missense_Mutation_p.S407P|PLCB4_uc010gbx.3_Missense_Mutation_p.S407P|PLCB4_uc021wal.1_Missense_Mutation_p.S407P|PLCB4_uc002wnh.3_Missense_Mutation_p.S254P	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	407	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.L406V(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGTAATTCTCTCCTTTGAAAA	0.368000														93			27		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30532907	30532907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30532907C>T	uc002dyi.4	+	30	3610	c.3434C>T	c.(3433-3435)tCt>tTt	p.S1145F	ITGAL_uc002dyj.4_Missense_Mutation_p.S1061F|ITGAL_uc010vev.2_Missense_Mutation_p.S379F	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	1145					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CAGCTGGCATCTGGGCAAGAG	0.582000														79			35		0	0	1	0	0
TMEM198	130612	broad.mit.edu	37	2	220413939	220413939	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:220413939G>A	uc002vme.3	+	4	1393	c.808G>A	c.(808-810)Gag>Aag	p.E270K	TMEM198_uc002vmf.3_Missense_Mutation_p.E270K|MIR3132_uc021vxc.1_5'Flank	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	Homo sapiens transmembrane protein 198 (TMEM198), mRNA.	270	Arg-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGATCGCAAGGAGAAAAGGCG	0.637000														177			14		0	0	1	0	0
OCLN	100506658	broad.mit.edu	37	5	68800117	68800117	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:68800117G>A	uc003jwu.3	+	1	482	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	OCLN_uc003jwv.4_Missense_Mutation_p.E16K|OCLN_uc021xzq.1_5'UTR|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_5'UTR|OCLN_uc021xzt.1_5'UTR	NM_002538	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 1, mRNA.	16					cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CAGGCCTGATGAATTGTAAGT	0.358000														24			12		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76502909	76502909	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76502909C>T	uc010dhp.2	-	29	4821	c.4696G>A	c.(4696-4698)Gct>Act	p.A1566T		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTGCCAAAGCCTTTTCACAG	0.542000														103			40		0	0	1	0	0
RELA	5970	broad.mit.edu	37	11	65423223	65423223	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65423223G>A	uc010ron.2	-	9	1142	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D	RELA_uc001off.3_Silent_p.D323D|RELA_uc001ofh.3_Silent_p.D320D|RELA_uc001ofg.3_Silent_p.D323D|RELA_uc021qlq.1_Silent_p.D323D|RELA_uc009yqr.3_Silent_p.D270D|RELA_uc001ofe.2_Silent_p.D323D|RELA_uc009yqs.1_Non-coding_Transcript	NM_021975	NP_068810	Q04206	TF65_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog A (avian) (RELA), transcript variant 1, mRNA.	323					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to UV-B|response to interleukin-1|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|transcription factor complex	NF-kappaB binding|activating transcription factor binding|chromatin binding|identical protein binding|phosphate binding|protein N-terminus binding|protein kinase binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GAGGCCGGGGGTCGGTGGGTC	0.627000														60			26		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666526	167666526	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167666526G>A	uc001gem.3	+	5	852	c.665G>A	c.(664-666)gGa>gAa	p.G222E	RCSD1_uc010pli.2_Missense_Mutation_p.G192E	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	222										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					TCCAGTGAGGGAGCAGCGGGA	0.597000														40			24		0	0	1	0	0
AGFG1	3267	broad.mit.edu	37	2	228399602	228399602	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:228399602C>T	uc002vpc.2	+	7	1316	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S	AGFG1_uc002vpd.2_Missense_Mutation_p.P380S|AGFG1_uc002vpe.2_Missense_Mutation_p.P356S|AGFG1_uc002vpf.2_Missense_Mutation_p.P316S	NM_004504	NP_004495	P52594	AGFG1_HUMAN	Homo sapiens ArfGAP with FG repeats 1 (AGFG1), transcript variant 2, mRNA.	356					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	Golgi apparatus|cytoplasmic membrane-bounded vesicle|nuclear pore	ARF GTPase activator activity|DNA binding|RNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						AGGTAAAGCTCCTGTTGGTTC	0.448000														90			30		0	0	1	0	0
GPR21	2844	broad.mit.edu	37	9	125797421	125797421	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125797421C>T	uc011lzk.2	+	0	576	c.576C>T	c.(574-576)acC>acT	p.T192T	RABGAP1_uc004bnl.4_Intron|RABGAP1_uc011lzh.2_Intron|RABGAP1_uc011lzj.2_Intron|GPR21_uc011lzi.2_Non-coding_Transcript	NM_005294	NP_005285	Q99679	GPR21_HUMAN	Homo sapiens G protein-coupled receptor 21 (GPR21), mRNA.	192						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						CCTACTTCACCCTGTTCATCG	0.493000														112			27		0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32157053	32157053	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32157053G>A	uc001btk.1	-	18	1728	c.1363C>T	c.(1363-1365)Cct>Tct	p.P455S	COL16A1_uc001btj.1_Missense_Mutation_p.P284S|COL16A1_uc001btl.4_Missense_Mutation_p.P455S	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	455	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGGGGTCCAGGGAGGCCGGGG	0.667000														47			4		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17692204	17692204	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:17692204C>T	uc002rcl.1	-	2	3371	c.3347G>A	c.(3346-3348)gGc>gAc	p.G1116D	RAD51AP2_uc010exn.1_Missense_Mutation_p.G1107D	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	1116	Interaction with RAD51.									endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCTTGAAATGCCATGTGGAAA	0.323000														22			4		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128432	83128432	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:83128432C>T	uc004eei.1	+	3	737	c.716C>T	c.(715-717)tCa>tTa	p.S239L	CYLC1_uc004eeh.1_Missense_Mutation_p.S238L	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	239					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	p.S238*(2)|p.S239*(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAGATTTGCTCAGAAAATAGT	0.333000														28			8		0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89619494	89619495	+	Silent	DNP	CC	TT	TT	rs1050404		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89619494_89619495CC>TT	uc002fnj.3	+	13	1908_1909	c.1887_1888CC>TT	c.(1885-1890)gccctg>gcTTtg	p.629_630AL>AL	SPG7_uc002fnk.1_Non-coding_Transcript|SPG7_uc002fnl.3_Silent_p.38_39AL>AL	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	629					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGTGCATGGCCCTGGGAGGACG	0.619000														26			8		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84510501	84510501	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:84510501G>A	uc004eeq.3	+	3	1202	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	ZNF711_uc004eep.3_Missense_Mutation_p.E106K|ZNF711_uc004eeo.3_Missense_Mutation_p.E106K	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	106					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GGATTTAGAGGAAGATGATGG	0.438000														48			63		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87679347	87679348	+	Silent	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:87679347_87679348GG>AA	uc003ydx.3	-	5	705_706	c.657_658CC>TT	c.(655-660)ctcctg>ctTTtg	p.219_220LL>LL	CNGB3_uc010maj.3_Silent_p.81_82LL>LL	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	219					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAGAGCCACAGGAGATAGAGTC	0.450000														31			9		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018533	161018533	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:161018533C>T	uc001fxl.3	-	11	2624	c.2278G>A	c.(2278-2280)Gaa>Aaa	p.E760K	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Missense_Mutation_p.E606K|ARHGAP30_uc009wtx.3_Missense_Mutation_p.E433K	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	760	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACCTGGGCTTCCTCTCTTTGT	0.483000														243			95		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72156856	72156856	+	Nonsense_Mutation	SNP	G	A	A	rs140352254		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:72156856G>A	uc002fcc.4	-	18	2912	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*	PMFBP1_uc002fcd.3_Nonsense_Mutation_p.R909*|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Nonsense_Mutation_p.R764*	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	914										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ACCTGCTCTCGGAGCTGGTTT	0.532000														33			14		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980436	121980436	+	Missense_Mutation	SNP	G	A	A	rs104893689		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:121980436G>A	uc003eew.4	+	3	992	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	CASR_uc003eev.4_Missense_Mutation_p.R185Q	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	185			R -> Q (in FHH).		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)	TCTTTCCTCCGAACCATCCCC	0.502000														156			58		0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471756	47471756	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:47471756G>A	uc001rpm.3	-	2	1685	c.1030C>T	c.(1030-1032)Cac>Tac	p.H344Y	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.H344Y|AMIGO2_uc001rpl.3_Missense_Mutation_p.H344Y|AMIGO2_uc021qxg.1_Missense_Mutation_p.H344Y	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	344	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CTTCCATTGTGAAACACGTAA	0.423000														119			72		0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104835967	104835967	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104835967C>T	uc001kwm.3	+	6	2521	c.2358C>T	c.(2356-2358)ctC>ctT	p.L786L	CNNM2_uc001kwn.3_Silent_p.L764L	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	786					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ATTCTTCGCTCCTCCAAGTCT	0.537000														13			6		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957827	49957827	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:49957827C>T	uc004dow.1	-	4	1661	c.1537G>A	c.(1537-1539)Gga>Aga	p.G513R	AKAP4_uc004dou.1_Missense_Mutation_p.G504R|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.G335R	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	513					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CATGAGTTTCCTTGCTTTTGG	0.448000														53			86		0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14711348	14711348	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:14711348C>A	uc003jfm.4	-	11	1768	c.1437G>T	c.(1435-1437)gaG>gaT	p.E479D		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	479					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.E479*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CTGTCACCTCCTCTGTCGGAG	0.532000														204			90		3.1737e-70	3.19487e-70	1	1	0
IGDCC3	9543	broad.mit.edu	37	15	65621788	65621788	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65621788C>T	uc002aos.2	-	12	2397	c.2145G>A	c.(2143-2145)aaG>aaA	p.K715K	IGDCC3_uc002aor.1_Silent_p.K2K	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	715										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCTCCAGCTCCTTCATATCCA	0.657000														130			88		0	0	1	0	0
KCNK17	89822	broad.mit.edu	37	6	39267378	39267378	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:39267378G>A	uc003ooo.3	-	4	965	c.824C>T	c.(823-825)tCc>tTc	p.S275F	KCNK17_uc003oop.3_3'UTR	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA.	275						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.S275F(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GTGGCAGCAGGAACATACCCT	0.562000														58			27		0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132197639	132197639	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:132197639G>A	uc003kxz.1	-	1	1259	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	GDF9_uc011cxj.1_Missense_Mutation_p.S248F	NM_005260	NP_005251	O60383	GDF9_HUMAN	Homo sapiens growth differentiation factor 9 (GDF9), mRNA.	336					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGATTGAAGGAAGCTGGGCC	0.483000														91			36		0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154296130	154296130	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154296130C>T	uc001feu.3	+	4	595	c.555C>T	c.(553-555)gtC>gtT	p.V185V	ATP8B2_uc001few.3_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	185					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACAAGGGAGTCCCTGCGGGTC	0.622000														142			47		0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52781635	52781635	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:52781635G>A	uc001wzr.3	+	0	620	c.369G>A	c.(367-369)acG>acA	p.T123T		NM_000956	NP_000947	P43116	PE2R2_HUMAN	Homo sapiens prostaglandin E receptor 2 (subtype EP2), 53kDa (PTGER2), mRNA.	123						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	GCCTGGCCACGATGCTCATGC	0.677000														84			29		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33590868	33590868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:33590868C>T	uc001uus.3	+	0	298	c.290C>T	c.(289-291)cCc>cTc	p.P97L	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	97	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACCCACCACCCCCTGGCACCC	0.721000														17			5		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126241007	126241007	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126241007G>A	uc003ifj.4	+	0	3441	c.3441G>A	c.(3439-3441)gaG>gaA	p.E1147E		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1147	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGATTTTGAGTTGCATGCCA	0.448000														150			64		0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122551357	122551357	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:122551357G>A	uc004etq.4	+	10	1897	c.1605G>A	c.(1603-1605)aaG>aaA	p.K535K	GRIA3_uc004etr.4_Silent_p.K535K|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Silent_p.K519K	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	535					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCATGATAAAGAAGCCTCAGA	0.428000														63			87		0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23329128	23329128	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:23329128G>A	uc002nrb.1	+	3		c.1481G>A								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						CAAATGTGAAGAATGTGGCAG	0.388000														55			24		0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135384291	135384291	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:135384291C>T	uc003vtb.3	-	7	1409	c.720G>A	c.(718-720)aaG>aaA	p.K240K	SLC13A4_uc003vta.3_Silent_p.K239K	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	239						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GGACTTGTGGCTTTTCCTAAC	0.542000														47			17		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140746018	140746018	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140746018C>T	uc003lju.2	+	0	2121	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.F707F	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	708					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)			TCCTGGCCTTCGTCATCGTGC	0.602000														293			28		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81654598	81654598	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:81654598G>A	uc021ssk.1	-	3	357	c.357C>T	c.(355-357)atC>atT	p.I119I	TMC3_uc021ssj.1_Silent_p.I119I|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Silent_p.I119I	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	119						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGGGAATGAAGATGACCACAA	0.483000														18			14		0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77948989	77948989	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:77948989C>T	uc001xtz.3	-	3	723	c.649G>A	c.(649-651)Gac>Aac	p.D217N	ISM2_uc001xua.3_Intron|ISM2_uc001xty.3_Missense_Mutation_p.D129N	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	217						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCCTGGGGGTCCTCCACCACC	0.627000														101			47		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187670	140187670	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140187670G>A	uc003lhi.2	+	0	999	c.898G>A	c.(898-900)Gga>Aga	p.G300R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.G300R|PCDHAC2_uc011daa.2_Missense_Mutation_p.G300R	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	315	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G300*(2)		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)			TCCAATTACTGGACAAATTAT	0.358000														124			26		0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58078924	58078924	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:58078924C>T	uc002ena.3	+	9	2557	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	528	Hemopexin-like 4.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						ACACCTACTTCTACAAGGGCA	0.587000														34			13		0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100831	93100831	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:93100831G>A	uc001tch.2	+	1	875	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	C12orf74_uc001tci.3_Missense_Mutation_p.E142K|C12orf74_uc021rbt.1_Missense_Mutation_p.E142K	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	142										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GCCTGTCAATGAAGGGTCCCT	0.587000														53			27		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78846279	78846280	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:78846279_78846280GG>AA	uc001jxn.3	-	10	1583_1584	c.1406_1407CC>TT	c.(1405-1407)tcc>tTT	p.S469F	KCNMA1_uc021ptu.1_Missense_Mutation_p.S415F|KCNMA1_uc001jxj.2_Missense_Mutation_p.S469F|KCNMA1_uc001jxk.1_Missense_Mutation_p.S84F|KCNMA1_uc009xrt.1_Missense_Mutation_p.S289F|KCNMA1_uc001jxl.1_Missense_Mutation_p.S123F|KCNMA1_uc001jxo.3_Missense_Mutation_p.S469F|KCNMA1_uc001jxm.3_Missense_Mutation_p.S469F|KCNMA1_uc001jxq.3_Missense_Mutation_p.S469F	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	469	RCK N-terminal.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GATTGAGGACGGAACCCTGATA	0.475000														56			20		0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56113718	56113718	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56113718C>T	uc010rjg.2	+	0	204	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F68F(2)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGTACTTTTTCCTTAGACATT	0.408000										HNSCC(65;0.19)				144			45		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777014	18777014	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:18777014C>T	uc003zne.4	+	18	2939	c.2787C>T	c.(2785-2787)ttC>ttT	p.F929F		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	929	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGGCCCCCTTCGGCTATCTCA	0.662000														56			23		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21074807	21074807	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:21074807C>T	uc001iqi.3	-	27	3311	c.2914G>A	c.(2914-2916)Gag>Aag	p.E972K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Missense_Mutation_p.E228K|NEBL_uc021pnu.1_3'UTR	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	972	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAGGAGACCTCGTCTTCATCC	0.502000														52			50		0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54639208	54639208	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:54639208C>T	uc003jpy.4	+	7	1097	c.831C>T	c.(829-831)gtC>gtT	p.V277V	SKIV2L2_uc011cqi.2_Silent_p.V176V	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	277	Helicase ATP-binding.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CTGATAACGTCCACTATGTCT	0.353000														93			29		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75857507	75857507	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:75857507C>T	uc021zbv.1	-	21	4336	c.4301G>A	c.(4300-4302)cGa>cAa	p.R1434Q	COL12A1_uc021zbw.1_Missense_Mutation_p.R270Q|COL12A1_uc003phs.3_Missense_Mutation_p.R1434Q|COL12A1_uc003pht.3_Missense_Mutation_p.R270Q	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1434	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGTTTCCATTCGACTCACATA	0.368000														132			19		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52645340	52645340	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:52645340C>T	uc002xws.2	-	3	652	c.314G>A	c.(313-315)gGa>gAa	p.G105E	BCAS1_uc010zzb.1_Missense_Mutation_p.G8E|BCAS1_uc010gim.2_Missense_Mutation_p.G8E|BCAS1_uc002xwt.2_Missense_Mutation_p.G105E|BCAS1_uc010gil.1_Missense_Mutation_p.G105E|BCAS1_uc010zzc.2_Missense_Mutation_p.G8E	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	105						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCCGGTACGTCCTGGTACAGG	0.522000														53			10		0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53263106	53263106	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:53263106G>A	uc003dgo.3	-	9	1484	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W	TKT_uc003dgp.2_Missense_Mutation_p.R70W|TKT_uc011beo.1_Missense_Mutation_p.R391W|TKT_uc003dgq.3_Missense_Mutation_p.R438W|TKT_uc011beq.2_Missense_Mutation_p.R446W|TKT_uc011ber.2_Missense_Mutation_p.R240W	NM_001135055	NP_001128527	P29401	TKT_HUMAN	Homo sapiens transketolase (TKT), transcript variant 2, mRNA.	438					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	GGGACTGACCGAAACATAGCC	0.542000														150			62		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6943310	6943310	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:6943310G>A	uc002knm.3	-	61	9030	c.8936C>T	c.(8935-8937)aCt>aTt	p.T2979I	LAMA1_uc002knk.3_Missense_Mutation_p.T309I|LAMA1_uc002knl.3_Missense_Mutation_p.T432I|LAMA1_uc010wzj.2_Missense_Mutation_p.T2455I	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2979	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCTTGAAGAGTGTGCCATTT	0.493000														126			37		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11632983	11632983	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:11632983C>T	uc021zzo.1	-	2	1421	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	THSD7A_uc021zzn.1_Missense_Mutation_p.R390Q	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	390	TSP type-1 3.					integral to membrane		p.R390*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTGATGGTTCGTGTCCTTAC	0.512000										HNSCC(18;0.044)				42			22		0	0	1	0	0
TCRAV5.1a	0	broad.mit.edu	37	14	22237162	22237162	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22237162G>A	uc001wbt.1	+	1	246	c.239G>A	c.(238-240)gGa>gAa	p.G80E	TRA_uc021rpa.1_Intron|TCRAV5.1a_uc021rpd.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 6, partial cds, clone: un 84-2.																		CAAGATCCAGGAAGAGGCCCT	0.453000														69			28		0	0	1	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452023	43452023	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:43452023G>A	uc002rsv.4	-	1	1211	c.920C>T	c.(919-921)tCc>tTc	p.S307F	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA.	307					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGAGGCCgaggaacaggagga	0.781000														6			5		0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42941120	42941120	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:42941120G>A	uc002ihn.2	-	14	1577	c.1316C>T	c.(1315-1317)cCt>cTt	p.P439L	EFTUD2_uc010wje.1_Missense_Mutation_p.P404L|EFTUD2_uc010wjf.1_Missense_Mutation_p.P429L	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	439						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTTTGGAGAAGGGATATGCTG	0.547000														29			22		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228480406	228480406	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228480406C>T	uc009xez.1	+	39	10830	c.10786C>T	c.(10786-10788)Cgt>Tgt	p.R3596C	OBSCN_uc001hsn.3_Missense_Mutation_p.R3596C|OBSCN_uc001hsq.1_Missense_Mutation_p.R852C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3596	Ig-like 36.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGCAGATTCGTGGCCTGGC	0.602000														127			53		0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	70014033	70014033	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:70014033C>T	uc003dnz.3	+	9	1360	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	MITF_uc011bgb.2_Silent_p.S347S|MITF_uc003doa.3_Silent_p.S398S|MITF_uc003dob.3_Silent_p.S383S|MITF_uc021xam.1_Silent_p.S236S|MITF_uc003doe.3_Silent_p.S292S|MITF_uc003dof.3_Silent_p.S298S	NM_198159	NP_001171896	O75030	MITF_HUMAN	Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.	405					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		ATGGACTTTCCCTTATTCCAT	0.453000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""							96			38		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24344800	24344800	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24344800C>T	uc003xeb.3	+	10	1174	c.1061C>T	c.(1060-1062)tCa>tTa	p.S354L	ADAM7_uc003xec.3_Missense_Mutation_p.S126L	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	354	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACCTGTCCTTCAGGAAAATGC	0.458000														28			16		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040970	147040970	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:147040970C>T	uc010jgo.1	-	1	316	c.168G>A	c.(166-168)aaG>aaA	p.K56K	JAKMIP2_uc003loq.1_Silent_p.K56K|JAKMIP2_uc011dbx.1_Silent_p.K14K|JAKMIP2_uc003lor.1_Silent_p.K56K|LOC153469_uc003lop.1_3'UTR	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	56						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGAATCCTCTTCGCTTCTT	0.507000														116			55		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28229733	28229733	+	Splice_Site	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:28229733A>G	uc009xky.3	-	13	1842	c.1744_splice	c.e13-1	p.V582_splice	ARMC4_uc010qds.2_Splice_Site_p.V107_splice|ARMC4_uc010qdt.2_Splice_Site_p.V274_splice|ARMC4_uc001itz.3_Splice_Site_p.V582_splice|ARMC4_uc010qdu.1_Splice_Site_p.V274_splice	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	582							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TAGTAGAGCAACCTATAATAA	0.448000														65			33		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728689	51728689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51728689G>A	uc002pwa.2	+	1	293	c.253G>A	c.(253-255)Gag>Aag	p.E85K	CD33_uc010eos.1_Missense_Mutation_p.E85K|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	85	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AGTACAGGAGGAGACTCAGGG	0.522000														96			26		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104064570	104064570	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:104064570C>T	uc001tjw.3	+	21	2542	c.2356C>T	c.(2356-2358)Cct>Tct	p.P786S		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	786					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TAAATACGGACCTCGGTGTAA	0.557000														22			4		0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69959346	69959346	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:69959346C>T	uc002exu.1	+	11	1282	c.1193C>T	c.(1192-1194)tCg>tTg	p.S398L	WWP2_uc002exv.1_Missense_Mutation_p.S398L|WWP2_uc010vlm.1_Missense_Mutation_p.S282L|WWP2_uc010vln.1_Missense_Mutation_p.S16L|WWP2_uc002exw.1_5'UTR	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	398					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	p.S398L(2)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCGAGTGCTTCGACTGACCAT	0.488000														397			182		0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	36846859	36846859	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:36846859G>A	uc003zzo.1	-	8	1528	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	PAX5_uc011lpt.1_Silent_p.F156F|PAX5_uc011lpu.1_Non-coding_Transcript|PAX5_uc011lpv.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Missense_Mutation_p.S283F|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Silent_p.F260F|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Silent_p.F317F|PAX5_uc011lqa.1_Silent_p.F252F|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Silent_p.F326F|PAX5_uc010mlp.1_Intron	NM_016734	NP_057953	Q02548	PAX5_HUMAN	Homo sapiens paired box 5 (PAX5), mRNA.	360					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(11)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CCGGGTTGGGGAACCTCCAGG	0.627000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""									21			9		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128150761	128150761	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:128150761C>T	uc011ebt.2	-	2	718	c.569G>A	c.(568-570)tGg>tAg	p.W190*	THEMIS_uc010kfa.3_Nonsense_Mutation_p.W93*|THEMIS_uc021zfa.1_Nonsense_Mutation_p.W190*|THEMIS_uc010kfb.3_Nonsense_Mutation_p.W155*	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	190	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGGAATCTTCCATTCAACAAT	0.353000														48			33		0	0	1	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99021527	99021527	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99021527G>A	uc011kiw.2	-	7	1998	c.1938C>T	c.(1936-1938)gcC>gcT	p.A646A	ATP5J2-PTCD1_uc003uqh.3_Silent_p.A597A	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	646								p.A597A(1)									GCTTCCTGATGGCCGCGTTGA	0.527000														80			6		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27506194	27506194	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:27506194G>A	uc002dov.2	-	15	2708	c.2668C>T	c.(2668-2670)Ccc>Tcc	p.P890S	GTF3C1_uc002dou.3_Missense_Mutation_p.P890S	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	890						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGGATTGGGGGGATGTAGCGC	0.562000														39			7		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29012441	29012441	+	Missense_Mutation	SNP	C	T	T	rs55974987	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29012441C>T	uc001usb.3	-	3	715	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	FLT1_uc010aar.1_Missense_Mutation_p.E144K|FLT1_uc001usc.3_Missense_Mutation_p.E144K|FLT1_uc010tdp.1_Missense_Mutation_p.E144K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	144			E -> K (in dbSNP:rs55974987).		cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGTATAATTTCGGGGATTTCA	0.383000														43			9		0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47587925	47587925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:47587925G>A	uc002ioz.4	+	3	845	c.720G>A	c.(718-720)caG>caA	p.Q240Q		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	240	Ser/Thr-rich.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCAGCTCCCAGCCCGTGGTGA	0.617000														50			18		0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93119327	93119327	+	Missense_Mutation	SNP	C	T	T	rs142007147		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:93119327C>T	uc001yap.3	+	5	2085	c.1933C>T	c.(1933-1935)Cgc>Tgc	p.R645C	RIN3_uc010auk.3_Missense_Mutation_p.R307C|RIN3_uc001yaq.3_Missense_Mutation_p.R570C|RIN3_uc001yar.1_Missense_Mutation_p.R307C|RIN3_uc001yas.1_Missense_Mutation_p.R307C	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	645	Interaction with RAB5B.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.R645C(2)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCAGGAGATTCGCACCATGAT	0.622000														37			15		0	0	1	0	0
ZNF74	7625	broad.mit.edu	37	22	20761100	20761100	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:20761100C>T	uc010gsm.3	+	5	1989	c.1777C>T	c.(1777-1779)Ctc>Ttc	p.L593F	ZNF74_uc002zsg.3_Missense_Mutation_p.L522F|ZNF74_uc002zsh.3_Missense_Mutation_p.L593F|ZNF74_uc002zsi.3_Missense_Mutation_p.L522F|ZNF74_uc010gsn.3_Missense_Mutation_p.L522F	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.	593					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			caaacacctgctcagcacata	0.592000														60			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179642167	179642167	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179642167G>A	uc021vsy.1	-	25	4850	c.4625C>T	c.(4624-4626)tCa>tTa	p.S1542L	TTN_uc021vsz.1_Missense_Mutation_p.S1496L|TTN_uc021vta.1_Missense_Mutation_p.S1496L|TTN_uc021vtb.1_Missense_Mutation_p.S1496L|TTN_uc002unb.2_Missense_Mutation_p.S1542L|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1542	Ig-like 6.						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)			TAAAATCACTGAAATTGAAGA	0.383000														32			8		0	0	1	0	0
RBM38	55544	broad.mit.edu	37	20	55982841	55982841	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:55982841C>T	uc010zzj.2	+	3	843	c.659C>T	c.(658-660)cCc>cTc	p.P220L	MIR5095_uc021wfc.1_Intron|RBM38_uc010zzk.2_3'UTR	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	Homo sapiens RNA binding motif protein 38 (RBM38), transcript variant 1, mRNA.	220					3'-UTR-mediated mRNA stabilization|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 transcription of p21 class mediator|RNA splicing|cell cycle|cell cycle arrest|cell differentiation|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing	cytosol|nucleus	RNA binding|mRNA 3'-UTR binding|mRNA binding|nucleotide binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			GCCGCAGCACCCGCGGGCACC	0.672000														3			3		0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16475061	16475061	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16475061G>A	uc001aya.2	-	2	790	c.635C>T	c.(634-636)cCt>cTt	p.P212L	EPHA2_uc010oca.2_Missense_Mutation_p.P212L	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	212	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GATGGTCTCAGGGAAGTGGGC	0.652000														48			19		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390835	208390835	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:208390835G>A	uc001hgz.3	-	1	1191	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F	PLXNA2_uc001hha.4_Missense_Mutation_p.L199F	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	145	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGGATGAAGAGGTCATCCAGC	0.572000														148			27		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83182733	83182733	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:83182733C>T	uc001paj.2	-	18	2370	c.2067G>A	c.(2065-2067)atG>atA	p.M689I	DLG2_uc001pai.2_Missense_Mutation_p.M568I|DLG2_uc010rsy.1_Missense_Mutation_p.M638I|DLG2_uc021qof.1_Missense_Mutation_p.M728I|DLG2_uc010rsz.1_Missense_Mutation_p.M685I|DLG2_uc010rta.1_Missense_Mutation_p.M671I|DLG2_uc001pak.2_Missense_Mutation_p.M794I|DLG2_uc010rtb.1_Missense_Mutation_p.M656I|DLG2_uc010rsx.1_Missense_Mutation_p.M166I|DLG2_uc010rsw.1_Missense_Mutation_p.M153I	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	689	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCCGATCCTTCATGGGCCCCA	0.433000														34			23		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228264	3228264	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:3228264G>A	uc004crg.4	-	6	8137	c.7980C>T	c.(7978-7980)acC>acT	p.T2660T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2660	Ig-like C2-type 11.					extracellular region				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)				CCCCGGGAGGGGTGCAGGGGA	0.592000														31			38		0	0	1	0	0
CHST13	166012	broad.mit.edu	37	3	126261284	126261284	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:126261284G>A	uc003eja.3	+	2	934	c.889G>A	c.(889-891)Gcc>Acc	p.A297T		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 13 (CHST13), mRNA.	297					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		gccccggggagccgccgccTC	0.706000														8			4		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49295430	49295430	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:49295430C>T	uc002rww.3	-	2	263	c.153_splice	c.e2-1	p.L51_splice	FSHR_uc010fbn.3_Splice_Site_p.L51_splice|FSHR_uc002rwx.3_Splice_Site_p.L51_splice|FSHR_uc010fbo.2_Splice_Site	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	51					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GACAAACCTCCTGCAAAGAGA	0.383000									Gonadal Dysgenesis, 46 XX					104			11		0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117103972	117103972	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117103972G>A	uc004biq.3	-	19	4043	c.3908C>T	c.(3907-3909)tCt>tTt	p.S1303F	AKNA_uc004bin.3_Missense_Mutation_p.S550F|AKNA_uc004bio.3_Missense_Mutation_p.S763F|AKNA_uc004bip.3_Missense_Mutation_p.S1222F|AKNA_uc004bir.3_Missense_Mutation_p.S1303F|AKNA_uc004bis.3_Missense_Mutation_p.S1303F|AKNA_uc010mve.2_Missense_Mutation_p.S1184F	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1303			S -> P (in dbSNP:rs2250242).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGGAGTTGAAGATGCTTTTCT	0.622000														69			16		0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138697051	138697051	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:138697051G>A	uc011mwn.1	-	12	1793	c.1787C>T	c.(1786-1788)tCa>tTa	p.S596L	MCF2_uc004fav.3_Missense_Mutation_p.S451L|MCF2_uc004fau.3_Missense_Mutation_p.S451L|MCF2_uc010nsh.2_Missense_Mutation_p.S451L|MCF2_uc011mwm.2_Missense_Mutation_p.S412L|MCF2_uc011mwl.2_Missense_Mutation_p.S412L|MCF2_uc011mwo.1_Missense_Mutation_p.S511L|MCF2_uc004faw.2_Missense_Mutation_p.S511L	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	451	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)					TTGTTTAGATGAAAAAAATGG	0.368000														58			54		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516686	140516686	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140516686C>T	uc003liq.3	+	0	1887	c.1670C>T	c.(1669-1671)tCg>tTg	p.S557L		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	557	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGACAACTCGCCCTTCGTG	0.716000														59			30		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70446398	70446398	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:70446398C>T	uc001jok.4	+	10	5843	c.5338C>T	c.(5338-5340)Cga>Tga	p.R1780*		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1780					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACCTATTCCCCGAATCAAGCG	0.468000														81			21		0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122756816	122756816	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:122756816G>A	uc001pym.3	+	1	556	c.259G>A	c.(259-261)Gag>Aag	p.E87K	C11orf63_uc001pyl.1_Missense_Mutation_p.E87K	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	87										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AAGCCTGCACGAGATGGAAGA	0.537000														105			31		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390399	197390399	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197390399G>A	uc001gtz.3	+	5	1650	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	CRB1_uc010poz.2_Missense_Mutation_p.E412K|CRB1_uc009wza.3_Missense_Mutation_p.E369K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.E481K|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.E130K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	481	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GTCCCTGTGTGAAATCGCAAC	0.498000														73			6		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101679563	101679563	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:101679563C>T	uc001tia.1	+	3	386	c.230C>T	c.(229-231)tCa>tTa	p.S77L	UTP20_uc009ztz.1_Missense_Mutation_p.S77L	NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	77					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAATGCCAATCATTCAATCAG	0.358000														85			36		0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327717	52327717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52327717C>T	uc002pxt.1	+	1	900	c.716C>T	c.(715-717)cCc>cTc	p.P239L	FPR3_uc021uyq.1_Missense_Mutation_p.P239L	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	239					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.R238H(2)|p.P239P(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TCCAGCCGTCCCTTACGTGTC	0.453000														41			19		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24511603	24511603	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:24511603G>A	uc003jgr.2	-	5	1341	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	279	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		GAGGATTCAAGAACTCGAAGA	0.423000										HNSCC(23;0.051)				44			10		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29007989	29007989	+	Silent	SNP	C	T	T	rs56405013	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29007989C>T	uc001usb.3	-	5	1065	c.780G>A	c.(778-780)acG>acA	p.T260T	FLT1_uc010aar.1_Silent_p.T260T|FLT1_uc001usc.3_Silent_p.T260T|FLT1_uc010tdp.1_Silent_p.T260T	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	260	Ig-like C2-type 3.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.N259K(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTTGAACTCTCGTGTTCAAGG	0.433000														84			40		0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376712	8376712	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8376712C>T	uc001qui.2	-	4	782	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	FAM90A1_uc001quh.2_Missense_Mutation_p.E75K	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	75							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CCTTCCTTTTCCCCAAAGTTC	0.547000														138			27		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740730	62740730	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62740730C>T	uc001dah.4	-	2	423	c.46G>A	c.(46-48)Gag>Aag	p.E16K	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	16										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGGTCTTTCTCTTCATCCCCC	0.453000														77			28		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77631416	77631416	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77631416G>A	uc011cbx.2	+	2	1384	c.431G>A	c.(430-432)gGg>gAg	p.G144E	SHROOM3_uc011cbz.1_5'UTR	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	144					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGGTCAGGAGGGGTTAAACTT	0.567000														46			17		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87040294	87040294	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:87040294G>A	uc009wcs.3	+	9	1583	c.1539G>A	c.(1537-1539)gtG>gtA	p.V513V	CLCA4_uc009wct.3_Silent_p.V276V|CLCA4_uc009wcu.3_Silent_p.V333V	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	513						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			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)		ATAGTACAGTGGGAAAGGACA	0.393000														63			26		0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12144525	12144525	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:12144525G>A	uc001atq.3	+	1	290	c.68G>A	c.(67-69)cGa>cAa	p.R23Q	TNFRSF8_uc010obc.2_Intron	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	23					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCAGGATCGACCCTTCGAG	0.597000														104			10		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166976311	166976311	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:166976311C>T	uc003irh.2	+	12	2255	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F	TLL1_uc011cjn.2_Silent_p.F559F|TLL1_uc011cjo.2_Silent_p.F360F	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	536	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)		TAGGGCGTTTCTGTGGTTATG	0.398000														69			27		0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159409	18159409	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:18159409C>T	uc021qek.1	+	0	660	c.660C>T	c.(658-660)ctC>ctT	p.L220L	MRGPRX3_uc001mnu.3_Silent_p.L220L	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	220						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCATCCTCCTCACAGTGCTGG	0.552000														77			28		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48697087	48697087	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48697087C>T	uc002irk.1	+	33	6197	c.5825C>T	c.(5824-5826)tCc>tTc	p.S1942F	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Missense_Mutation_p.S1908F|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Missense_Mutation_p.S1942F|CACNA1G_uc002irq.1_Missense_Mutation_p.S1919F|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Missense_Mutation_p.S1931F|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002iru.1_Missense_Mutation_p.S1908F|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Intron|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Missense_Mutation_p.S1844F|CACNA1G_uc002ise.1_Missense_Mutation_p.S1810F|CACNA1G_uc002isf.1_Missense_Mutation_p.S1837F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1942					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ATCCAGGGCTCCCTGGAGTGG	0.682000														18			4		0	0	1	0	0
TBC1D3	729873	broad.mit.edu	37	17	36288274	36288274	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:36288274G>A	uc010wdk.1	+	4	544	c.543G>A	c.(541-543)atG>atA	p.M181I	TBC1D3_uc002hoo.2_Missense_Mutation_p.M120I|TBC1D3_uc002hop.2_Non-coding_Transcript|TBC1D3_uc010wdj.1_Missense_Mutation_p.M40I|TBC1D3_uc010cvf.1_Missense_Mutation_p.M120I|TBC1D3_uc002hoq.2_Missense_Mutation_p.M120I|DQ586040_uc002hpl.3_5'Flank|DQ587906_uc002hor.3_5'Flank|DQ585853_uc021tvy.1_5'Flank	NM_032258	NP_115634	Q8IZP1	TBC3A_HUMAN	Homo sapiens TBC1 domain family, member 3F (TBC1D3F), mRNA.	120	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGAGGAAATGAAGTTGAAAA	0.557000														587			63		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50465065	50465065	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:50465065G>A	uc001vdk.2	+	0	521	c.339G>A	c.(337-339)gaG>gaA	p.E113E						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		CACCTTTAGAGGATGCCAGCT	0.403000														167			64		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114274902	114274902	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:114274902G>A	uc003ibe.4	+	37	5228	c.5128G>A	c.(5128-5130)Gaa>Aaa	p.E1710K	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.E1725K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1677					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAATTAAAAGAAAAGCAGAA	0.398000														166			23		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102713470	102713470	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102713470G>A	uc001phj.1	-	1	348	c.283C>T	c.(283-285)Cct>Tct	p.P95S		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	95					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CCAACATCAGGAACTCCACAC	0.493000														38			17		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739306	55739306	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:55739306G>A	uc003pcq.3	-	0	1070	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S	BMP5_uc011dxf.2_Missense_Mutation_p.P120S	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	120					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACCCATTGGGAGAGGCTGGG	0.517000														106			42		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833950	24833950	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:24833950C>T	uc001iru.4	+	19	5655	c.5252C>T	c.(5251-5253)cCc>cTc	p.P1751L	KIAA1217_uc001irs.3_Missense_Mutation_p.P1072L|KIAA1217_uc001irt.4_Missense_Mutation_p.P1117L|KIAA1217_uc010qcy.2_Missense_Mutation_p.P1182L|KIAA1217_uc010qcz.2_Missense_Mutation_p.P1157L|KIAA1217_uc001irw.3_Missense_Mutation_p.P901L|KIAA1217_uc001irz.3_Missense_Mutation_p.P835L|KIAA1217_uc001irx.3_Missense_Mutation_p.P1434L|KIAA1217_uc001iry.3_Missense_Mutation_p.P875L	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1751					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATGCCTGTCCCCATGAGTGCC	0.577000														128			59		0	0	1	0	0
C16orf57	79650	broad.mit.edu	37	16	58044008	58044008	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:58044008C>T	uc002emz.3	+	2	552	c.441C>T	c.(439-441)tcC>tcT	p.S147S	C16orf57_uc002emy.3_Non-coding_Transcript|C16orf57_uc010via.2_Silent_p.S147S|C16orf57_uc010vib.2_Silent_p.S147S|C16orf57_uc010vic.1_Silent_p.S96S	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN	Homo sapiens chromosome 16 open reading frame 57 (C16orf57), transcript variant 1, mRNA.	147										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	8						GTATGACCTCCTTCCACAGGT	0.597000														48			6		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480105	73480105	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:73480105C>T	uc003xzb.3	+	1	724	c.136C>T	c.(136-138)Cac>Tac	p.H46Y		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	46					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)			GGGCCTCAACCACGAAGTCCT	0.572000														79			42		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196309524	196309524	+	Missense_Mutation	SNP	G	A	A	rs140538298		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:196309524G>A	uc001gtd.1	-	15	1790	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.S527L|KCNT2_uc001gtf.1_Missense_Mutation_p.S577L|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.S577L|KCNT2_uc001gth.1_Missense_Mutation_p.S98L	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	577						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATGATAAAACGACCTGGACAC	0.303000														106			30		0	0	1	0	0
HSD17B3	3293	broad.mit.edu	37	9	99012059	99012059	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:99012059G>A	uc004awa.1	-	5	511	c.463C>T	c.(463-465)Cat>Tat	p.H155Y	HSD17B3_uc010msc.1_Missense_Mutation_p.H155Y	NM_000197	NP_000188	P37058	DHB3_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA.	155					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	ATGTTACAATGGATGAGGCTC	0.398000														52			15		0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50783766	50783766	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:50783766C>T	uc021tib.1	+	0	280	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C	CYLD_uc002egn.1_Missense_Mutation_p.R53C|CYLD_uc002ego.3_Missense_Mutation_p.R53C|CYLD_uc010cbs.1_Missense_Mutation_p.R53C|CYLD_uc002egp.1_Missense_Mutation_p.R53C|CYLD_uc002egq.1_Missense_Mutation_p.R53C|CYLD_uc002egr.1_Missense_Mutation_p.R53C|CYLD_uc002egs.1_Missense_Mutation_p.R53C	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	53					Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TATTCAAGATCGTTCTGTGGG	0.378000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					98			30		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86697680	86697680	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:86697680G>A	uc002blz.1	+	2	224	c.144G>A	c.(142-144)aaG>aaA	p.K48K		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	48					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.K48Q(1)		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						TTGGACGGAAGGCCCTAGAAT	0.448000														18			10		0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25850805	25850805	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:25850805C>T	uc003nfk.4	-	7	985	c.875G>A	c.(874-876)aGa>aAa	p.R292K	SLC17A3_uc003nfi.4_Missense_Mutation_p.R214K|SLC17A3_uc011djz.1_3'UTR|SLC17A3_uc011dka.1_Missense_Mutation_p.R214K	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	214					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GGGTAGAGATCTGAGCATAGC	0.423000														82			20		0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61508254	61508254	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:61508254G>A	uc002sbe.3	-	37	5144	c.5122C>T	c.(5122-5124)Cct>Tct	p.P1708S	USP34_uc002sbf.3_5'Flank	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	1708					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGAGCATCAGGAAGAAATTTC	0.388000														28			8		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38877410	38877410	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38877410C>T	uc021yzh.1	+	64	9739	c.9630C>T	c.(9628-9630)ttC>ttT	p.F3210F	DNAH8_uc003ooe.2_Silent_p.F2993F|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTCCTACTTCCTTTCAGACT	0.448000														81			28		0	0	1	0	0
AK300121	0	broad.mit.edu	37	12	52649870	52649870	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52649870G>A	uc010snr.1	-	1	375	c.27C>T	c.(25-27)gcC>gcT	p.A9A	KRT86_uc010snq.2_Intron					SubName: Full=cDNA FLJ60029, highly similar to Keratin, type II cuticular Hb3;																		TGAGCTCTGAGGCCAGCCTCC	0.542000														123			18		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38990558	38990558	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38990558G>A	uc002oit.3	+	44	7355	c.7225G>A	c.(7225-7227)Gaa>Aaa	p.E2409K	RYR1_uc002oiu.3_Missense_Mutation_p.E2409K|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2409	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTTTGGTGAGGAACCGCCTGA	0.632000														93			36		0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78474955	78474955	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:78474955C>T	uc002bdh.3	-	6	953	c.747G>A	c.(745-747)atG>atA	p.M249I	ACSBG1_uc010umx.2_Missense_Mutation_p.M7I|ACSBG1_uc010umw.2_Missense_Mutation_p.M245I|ACSBG1_uc010umy.2_Missense_Mutation_p.M142I	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	249					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TGAATTCCTCCATCTGTAGCC	0.607000														86			23		0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34867273	34867273	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:34867273G>A	uc010wcy.2	-	12	1908	c.916C>T	c.(916-918)Ctt>Ttt	p.L306F	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.L306F|MYO19_uc010wcz.1_Non-coding_Transcript	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	306	Myosin head-like.					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATATTGCCAAGGTGCAGCAGT	0.607000														0			2		0	0	1	0	0
C1QTNF6	114904	broad.mit.edu	37	22	37578762	37578762	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37578762G>A	uc003aqx.1	-	2	566	c.303C>T	c.(301-303)gaC>gaT	p.D101D	C1QTNF6_uc003aqw.1_Silent_p.D82D|C1QTNF6_uc003aqy.1_Silent_p.D101D|C1QTNF6_uc003aqz.1_Intron	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.	82	Collagen-like.					collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TTGGGCCTGGGTCCCCTTTGT	0.642000														20			14		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32036794	32036794	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32036794C>T	uc003nzl.2	-	15	5909	c.5707G>A	c.(5707-5709)Gtg>Atg	p.V1903M		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1985	Fibronectin type-III 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCTCAGTCACCATCCAGGAG	0.582000														93			45		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48614119	48614120	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48614119_48614120GG>AA	uc003ctz.2	-	66	5690_5691	c.5689_5690CC>TT	c.(5689-5691)cct>TTt	p.P1897F		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1897	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.P1897T(2)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGGCCAGGAGGGCCCACTGGC	0.614000														8			4		0	0	1	0	0
ARFIP1	27236	broad.mit.edu	37	4	153791994	153791994	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:153791994C>T	uc003imz.3	+	3	568	c.292C>T	c.(292-294)Cct>Tct	p.P98S	ARFIP1_uc003inb.3_Intron|ARFIP1_uc003ina.3_Intron|ARFIP1_uc003inc.3_Missense_Mutation_p.P98S|ARFIP1_uc011cij.2_Intron	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN	Homo sapiens ADP-ribosylation factor interacting protein 1 (ARFIP1), transcript variant 1, mRNA.	98					intracellular protein transport|regulation of protein secretion	Golgi membrane|cytosol			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					TTTAATTGTTCCTGCAGGTAT	0.433000														42			28		0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30432372	30432372	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:30432372C>T	uc002wwt.1	-	0	1049	c.974G>A	c.(973-975)gGa>gAa	p.G325E		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	325					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA 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	p.G325E(2)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GAAGAACATTCCTGGCGTCCG	0.617000														79			28		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947463	237947463	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:237947463G>A	uc001hyl.1	+	89	12571	c.12451G>A	c.(12451-12453)Gaa>Aaa	p.E4151K	RYR2_uc010pya.2_Missense_Mutation_p.E566K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4151					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)			GGTCTATTTTGAAATCAGTGA	0.498000														96			60		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530577	140530577	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140530577G>A	uc003lir.3	+	0	739	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	247	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCTCTATGAAGCACAAGT	0.547000														39			19		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56343630	56343630	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56343630C>T	uc002ivt.3	+	10	1952	c.1636C>T	c.(1636-1638)Cat>Tat	p.H546Y	LPO_uc010wns.2_Missense_Mutation_p.H487Y|LPO_uc010dcp.3_Missense_Mutation_p.H463Y|LPO_uc010dcq.3_Missense_Mutation_p.H217Y|LPO_uc010dcr.3_Missense_Mutation_p.H109Y	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	546					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCACAGGATCCATGGCTTTGA	0.532000														44			4		0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53269385	53269385	+	Missense_Mutation	SNP	G	A	A	rs137948996	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53269385G>A	uc002qab.4	-	2	1910	c.1624C>T	c.(1624-1626)Cat>Tat	p.H542Y	ZNF600_uc021uyz.1_Missense_Mutation_p.H542Y	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		CGATGGCAATGAAGGTATGAC	0.458000														262			101		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174673	207174673	+	Silent	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:207174673C>A	uc002vbp.2	+	4	5671	c.5421C>A	c.(5419-5421)gtC>gtA	p.V1807V		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1807							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAAGGATGTCATAGAGGATA	0.408000														48			29		3.57733e-08	3.58744e-08	1	1	0
ARMC1	55156	broad.mit.edu	37	8	66517673	66517673	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:66517673G>A	uc003xvl.3	-	4	821	c.566C>T	c.(565-567)tCa>tTa	p.S189L	ARMC1_uc011leo.2_Missense_Mutation_p.S87L	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA.	189					metal ion transport		metal ion binding	p.R188H(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			TTTCAAATCTGAACGGATTCG	0.333000														78			20		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37454063	37454063	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:37454063G>A	uc021ppc.1	+	17	1975	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E626K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	682						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGACTATGAAGAAAATTCTTG	0.289000														65			41		0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261887	21261887	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:21261887G>A	uc010bwp.1	+	1	1043	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	334								p.D334N(2)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GTGGGATGACGATGAAGTGGA	0.517000														32			17		0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155373	106155373	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:106155373G>A	uc011cez.2	+	2	742	c.337G>A	c.(337-339)Gga>Aga	p.G113R	TET2_uc003hxk.3_Missense_Mutation_p.G92R|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.G92R|TET2_uc010ilp.2_Missense_Mutation_p.G92R|TET2_uc021xql.1_Missense_Mutation_p.G92R	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	92					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTTGCAAAATGGAGGAATAAA	0.403000			"""Mis N, F"""		MDS									72			28		0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100693400	100693400	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:100693400C>T	uc004axy.3	-	2	385	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	HEMGN_uc004axz.3_Missense_Mutation_p.E93K	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	93					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ATTTCCTTTTCTATCTGTGGC	0.443000														94			24		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40411717	40411717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40411717C>T	uc002omp.4	-	6	3919	c.3911G>A	c.(3910-3912)cGa>cAa	p.R1304Q		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1304	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACACTGACTCGCCCATTACC	0.627000														114			55		0	0	1	0	0
SMYD2	56950	broad.mit.edu	37	1	214504346	214504346	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:214504346C>T	uc021pix.1	+	8	903	c.870C>T	c.(868-870)gcC>gcT	p.A290A	SMYD2_uc021piw.1_Silent_p.A198A|SMYD2_uc009xdl.1_Intron	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	Homo sapiens SET and MYND domain containing 2 (SMYD2), mRNA.	290					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	p.A290A(2)		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)		AGGCAGAAGCCATCCGAGACA	0.502000														113			48		0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35786520	35786520	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:35786520C>T	uc002nyy.2	+	3	249	c.51C>T	c.(49-51)tcC>tcT	p.S17S	MAG_uc002nyx.2_Silent_p.S17S|MAG_uc010eds.2_5'UTR|MAG_uc002nyz.2_Silent_p.S17S	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	17					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCGCAGCCTCCCGAGGGGGTC	0.687000														47			25		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73477952	73477952	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:73477952C>T	uc004aid.3	-	2	578	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	TRPM3_uc004ahw.3_5'UTR|TRPM3_uc004ahx.3_5'UTR|TRPM3_uc004ahy.3_5'UTR|TRPM3_uc004ahz.3_5'UTR|TRPM3_uc004aia.3_5'UTR|TRPM3_uc004aib.3_5'UTR|TRPM3_uc004aic.3_Missense_Mutation_p.E112K|TRPM3_uc010mor.3_Missense_Mutation_p.E112K|TRPM3_uc004aie.3_5'UTR|TRPM3_uc004aif.3_5'UTR|TRPM3_uc004aig.3_5'UTR|TRPM3_uc004aii.3_Missense_Mutation_p.E114K	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	112						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGGCGACTTTCATTTTTCTCA	0.488000														104			30		0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031894	32031894	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:32031894C>T	uc011axg.2	+	1	1872	c.1323C>T	c.(1321-1323)ctC>ctT	p.L441L	ZNF860_uc021wuv.1_Silent_p.L441L	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						GTTCATATCTCGTAGTTCATT	0.378000														57			28		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157244	22157244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22157244C>T	uc021urr.1	-	3	741	c.592G>A	c.(592-594)Gag>Aag	p.E198K	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)				TAGGAATTCTCTCTAGTATAA	0.363000														58			28		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38840443	38840443	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:38840443G>A	uc021yzh.1	+	49	7231	c.7122G>A	c.(7120-7122)atG>atA	p.M2374I	DNAH8_uc003ooe.2_Missense_Mutation_p.M2157I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAATGCGAATGAATCCAAAAG	0.453000														73			27		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284537	52284537	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52284537C>T	uc001rzd.3	+	4	985	c.807C>T	c.(805-807)ctC>ctT	p.L269L	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Silent_p.L144L|ANKRD33_uc001rze.3_Silent_p.L165L|ANKRD33_uc001rzg.4_Silent_p.L71L|ANKRD33_uc001rzi.4_Silent_p.L144L	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	144										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TGTCCGGGCTCGTggcccagg	0.677000														18			6		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33003898	33003898	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:33003898G>A	uc001rlj.4	-	4	1295	c.1180C>T	c.(1180-1182)Ctt>Ttt	p.L394F	PKP2_uc001rlk.4_Missense_Mutation_p.L394F|PKP2_uc010skj.2_Missense_Mutation_p.L394F	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	394					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATGCCACGAAGCTGGTTAACC	0.408000														54			24		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45281402	45281402	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45281402G>A	uc002ozs.3	+	0	277	c.214G>A	c.(214-216)Ggt>Agt	p.G72S	CBLC_uc010ejt.3_Missense_Mutation_p.G72S	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	72	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				cggccccgggggtcccggcgg	0.726000			M		AML									6			8		0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155761161	155761161	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:155761161G>A	uc003qqm.3	-	5	700	c.597C>T	c.(595-597)tcC>tcT	p.S199S		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	199	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	p.A198D(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ACAACTCATAGGAGGCCTGTC	0.507000														38			27		0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70375179	70375179	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:70375179C>T	uc004dzd.2	+	4	1027	c.693C>T	c.(691-693)atC>atT	p.I231I	NLGN3_uc004dzb.3_Silent_p.I211I|NLGN3_uc011mps.2_Silent_p.I191I|NLGN3_uc004dzc.3_Silent_p.I94I|NLGN3_uc004dze.3_Silent_p.I29I|NLGN3_uc011mpr.1_Silent_p.I191I	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	231					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GCAATGTCATCGTCATCACCC	0.542000														30			36		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231109737	231109737	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:231109737C>T	uc002vql.3	+	5	721	c.606C>T	c.(604-606)ctC>ctT	p.L202L	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Silent_p.L202L|SP140_uc002vqn.3_Silent_p.L202L|SP140_uc002vqm.3_Silent_p.L202L|SP140_uc010fxl.3_Silent_p.L202L	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	202					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGTTAGCTCTCCCAAAGGCTG	0.458000														66			21		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31901501	31901501	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31901501C>T	uc011dor.2	+	2	635	c.371C>T	c.(370-372)tCt>tTt	p.S124F	CFB_uc003nyc.2_Missense_Mutation_p.L18F|CFB_uc011doo.2_Missense_Mutation_p.L18F|CFB_uc011dop.2_Missense_Mutation_p.S63F|CFB_uc003nye.4_Missense_Mutation_p.S186F|CFB_uc003nyf.3_Missense_Mutation_p.S186F|CFB_uc010jtk.3_Missense_Mutation_p.S54F|CFB_uc011doq.2_Missense_Mutation_p.S157F	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	200	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTCACGGGGTCTTCGGAGCGG	0.637000														59			20		0	0	1	0	0
SLC35E4	339665	broad.mit.edu	37	22	31042716	31042716	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:31042716G>A	uc003ais.1	+	1	1396	c.751G>A	c.(751-753)Gac>Aac	p.D251N	SLC35E4_uc003ait.3_Intron	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA.	251	Leu-rich.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CACTGCTGGCGACTCTCGCCT	0.667000														30			8		0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186944231	186944231	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:186944231C>T	uc003frh.2	-	11	1909	c.1519G>A	c.(1519-1521)Gac>Aac	p.D507N		NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	507	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CTGAGCAAGTCTGAATCACGT	0.572000														12			3		0	0	1	0	0
CLDN1	9076	broad.mit.edu	37	3	190039867	190039867	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:190039867G>A	uc003fsh.3	-	0	369	c.129C>T	c.(127-129)gcC>gcT	p.A43A		NM_021101	NP_066924	O95832	CLD1_HUMAN	Homo sapiens claudin 1 (CLDN1), mRNA.	43					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		ACATGGCCTGGGCGGTCACGA	0.592000														91			25		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201012658	201012658	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:201012658C>T	uc001gvv.3	-	40	5025	c.4798_splice	c.e40-1	p.R1600_splice		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1600					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCCTCCAGTCCTCTAGGGGCA	0.577000											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			12		0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100348964	100348964	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:100348964G>A	uc003huv.2	-	4	807	c.566C>T	c.(565-567)tCc>tTc	p.S189F	ADH7_uc021xqj.1_Missense_Mutation_p.S197F	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	189					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	ATATCCAGTGGAAAACCCACA	0.408000														43			19		0	0	1	0	0
FBXL15	79176	broad.mit.edu	37	10	104182012	104182012	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104182012C>T	uc001kvl.1	+	3	1045	c.937C>T	c.(937-939)Ctc>Ttc	p.L313F	PSD_uc001kvh.1_5'Flank|PSD_uc009xxd.1_5'Flank|PSD_uc001kvi.1_5'Flank|FBXL15_uc001kvj.1_Missense_Mutation_p.L226F|FBXL15_uc001kvk.2_Missense_Mutation_p.L226F	NM_024326	NP_077302	Q9H469	FXL15_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 15 (FBXL15), mRNA.	226					G2/M transition of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|bone mineralization|dorsal/ventral pattern formation|positive regulation of BMP signaling pathway|protein ubiquitination	SCF ubiquitin ligase complex|cytoplasm	protein binding			kidney(1)	1		Colorectal(252;0.207)		Epithelial(162;1.19e-08)|all cancers(201;2.65e-07)		CCACCTTGACCTCACCGGCTG	0.672000														13			3		0	0	1	0	0
JSRP1	126306	broad.mit.edu	37	19	2252699	2252699	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:2252699C>T	uc002lvj.2	-	6	696	c.625G>A	c.(625-627)Gag>Aag	p.E209K		NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	Homo sapiens junctional sarcoplasmic reticulum protein 1 (JSRP1), mRNA.	209						sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				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)		TCGTCGTTCTCTGCAGCCTCC	0.706000														113			28		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20054963	20054963	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:20054963C>T	uc002wru.3	+	3	426	c.312C>T	c.(310-312)ttC>ttT	p.F104F	C20orf26_uc010gcw.2_Silent_p.F58F|C20orf26_uc010zse.2_Silent_p.F104F|C20orf26_uc010zsf.1_Silent_p.F104F	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	104										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)		ATACGTTGTTCATGCACCTCT	0.507000														109			40		0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65113244	65113244	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:65113244C>T	uc001odm.3	+	6	878	c.745C>T	c.(745-747)Cct>Tct	p.P249S	DPF2_uc010roe.2_Intron	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	249					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						ACCACCCACTCCTGTTTCCCA	0.532000														43			18		0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111146191	111146191	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111146191G>A	uc021oro.1	-	0	1214	c.1214C>T	c.(1213-1215)cCg>cTg	p.P405L	KCNA2_uc009wfv.2_Intron|KCNA2_uc009wfw.3_Missense_Mutation_p.P405L	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	405						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)		GACAGGGACCGGTAAGGCAAT	0.488000														106			15		0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139136	3139136	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3139136G>A	uc002ctv.1	-	4	2222	c.2134C>T	c.(2134-2136)Ctg>Ttg	p.L712L	ZSCAN10_uc002cty.1_Silent_p.L373L|ZSCAN10_uc002ctw.1_Silent_p.L630L|ZSCAN10_uc002ctx.1_Silent_p.L640L	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	712					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TGGCGCAGCAGGTGGGAGTTG	0.711000														10			5		0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58260778	58260778	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:58260778G>A	uc002iyo.1	-	30	4157	c.3871C>T	c.(3871-3873)Cgg>Tgg	p.R1291W	USP32_uc002iyn.1_Missense_Mutation_p.R961W	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	1291					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TTTATCCACCGACCATTTACA	0.378000														80			35		0	0	1	0	0
CERK	64781	broad.mit.edu	37	22	47116007	47116007	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:47116007G>A	uc003bia.3	-	2	462	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L		NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	Homo sapiens ceramide kinase (CERK), mRNA.	119	Required for binding to sulfatide and phosphoinositides.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATCTCCCGCAGGGTCTGCAGC	0.572000														73			26		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57745893	57745893	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:57745893G>A	uc010bfw.3	+	7	2260	c.2067G>A	c.(2065-2067)gtG>gtA	p.V689V	CGNL1_uc002aeg.3_Silent_p.V689V	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	689						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TATTCCAGGTGAAGATGGAAC	0.517000														15			10		0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	78005818	78005818	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:78005818C>T	uc002ffg.1	+	7	1246	c.1149C>T	c.(1147-1149)acC>acT	p.T383T		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	383							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						TAGAAAAGACCCCAACTCCAC	0.532000											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		222			65		0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6472692	6472692	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6472692G>A	uc001qnw.3	-	1	1042	c.778C>T	c.(778-780)Cgt>Tgt	p.R260C	SCNN1A_uc001qnv.3_5'UTR|SCNN1A_uc001qnx.3_Missense_Mutation_p.R201C|SCNN1A_uc010sfb.2_Missense_Mutation_p.R224C	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	201					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CGGGCTCGACGGGCCCCGTGA	0.726000														21			12		0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50099460	50099460	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:50099460C>T	uc003cyc.3	+	14	2753	c.2505C>T	c.(2503-2505)ccC>ccT	p.P835P	RBM6_uc010hlc.2_Silent_p.P354P|RBM6_uc003cyd.3_Silent_p.P313P|RBM6_uc011bdi.2_Silent_p.P177P|RBM6_uc003cye.3_Silent_p.P313P|RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	835					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AAAAAAAACCCACCAGTCAAG	0.418000														63			19		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869693	36869693	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36869693G>A	uc002xhy.1	-	2	1112	c.840C>T	c.(838-840)ggC>ggT	p.G280G	KIAA1755_uc002xhz.1_Silent_p.G280G	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	280								p.L279I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTTGGGAAAAGCCTAGGAGAG	0.567000														97			44		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702748	30702748	+	Silent	SNP	C	T	T	rs112301482		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:30702748C>T	uc003xil.3	-	0	3786	c.3786G>A	c.(3784-3786)gcG>gcA	p.A1262A		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1262								p.A1262A(2)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CGTCAGTTTTCGCCTTTGTGT	0.313000														73			14		0	0	1	0	0
S100A12	6283	broad.mit.edu	37	1	153347053	153347053	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153347053C>T	uc001fbr.1	-	1	84	c.16G>A	c.(16-18)Gag>Aag	p.E6K		NM_005621	NP_005612	P80511	S10AC_HUMAN	Homo sapiens S100 calcium binding protein A12 (S100A12), mRNA.	6					defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	TCCAGATGCTCTTCAAGTTTT	0.483000														110			48		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87591451	87591451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:87591451C>T	uc003ydx.3	-	15	1859	c.1811G>A	c.(1810-1812)cGa>cAa	p.R604Q	CNGB3_uc010maj.3_Missense_Mutation_p.R461Q	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	604					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATTGGCAGTTCGACGGTTTCC	0.423000														183			49		0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99655367	99655367	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99655367C>T	uc003uso.3	+	2	590	c.446C>T	c.(445-447)tCc>tTc	p.S149F	ZSCAN21_uc003usn.1_Missense_Mutation_p.S148F	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	Homo sapiens zinc finger and SCAN domain containing 21 (ZSCAN21), mRNA.	149					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAGAAGATATCCTCCTCAGGA	0.517000														61			28		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236925843	236925843	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:236925843C>T	uc001hyf.2	+	20	2813	c.2609C>T	c.(2608-2610)tCg>tTg	p.S870L	ACTN2_uc001hyg.2_Missense_Mutation_p.S662L|ACTN2_uc009xgi.1_Missense_Mutation_p.S870L|ACTN2_uc010pxu.1_Missense_Mutation_p.S559L	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	870					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCCGCCTACTCGGGCCCAGGC	0.587000														55			11		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229771485	229771485	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:229771485C>T	uc001hts.1	+	3	1261	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	URB2_uc009xfd.1_Silent_p.I375I	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	375						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCTACAACATCGCTGCCGACA	0.522000														49			25		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89941791	89941791	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:89941791G>A	uc003kju.3	+	15	3001	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	969	Calx-beta 7.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAGATTCCAGAAGAAATGGA	0.323000														32			9		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369669	56369669	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56369669G>A	uc002qmd.4	+	2	1332	c.910G>A	c.(910-912)Gag>Aag	p.E304K	NLRP4_uc002qmf.3_Missense_Mutation_p.E229K|NLRP4_uc010etf.3_Missense_Mutation_p.E135K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	304	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGGATTCAACGAGAGTGATAG	0.507000														63			25		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76728481	76728481	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:76728481G>A	uc003pik.1	-	6	891	c.761C>T	c.(760-762)tCc>tTc	p.S254F		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	254	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGGGGACTGGGAGTCAGCGAG	0.537000														78			9		0	0	1	0	0
FOXB2	442425	broad.mit.edu	37	9	79635164	79635164	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:79635164C>T	uc004ako.1	+	0	594	c.594C>T	c.(592-594)ccC>ccT	p.P198P		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	Homo sapiens forkhead box B2 (FOXB2), mRNA.	198					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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			breast(1)|lung(8)|ovary(1)	10						CGTCACAGCCCCCGCAGCAAC	0.766000														17			10		0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45211365	45211365	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:45211365G>A	uc010xxd.2	+	5	1379	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	391										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TGTTGGTGCAGAAGCTGAACC	0.632000														10			10		0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37462938	37462938	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37462938C>T	uc003aqt.1	-	17	2306	c.2244G>A	c.(2242-2244)gaG>gaA	p.E748E	TMPRSS6_uc003aqs.1_Silent_p.E735E	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	735	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGCGATAGACCTCGCTGCACA	0.607000														29			16		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060071	54060071	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:54060071G>A	uc001cvr.1	-	2	1072	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	169					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TGAGACAGGGGATAGGGGGGC	0.687000														15			12		0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105199034	105199034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:105199034G>A	uc001tla.3	-	9	1785	c.1618C>T	c.(1618-1620)Ccc>Tcc	p.P540S		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	Homo sapiens solute carrier family 41, member 2 (SLC41A2), mRNA.	540						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						GTTAGGTAGGGGATGGAGAAA	0.463000														256			29		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12947771	12947771	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:12947771G>A	uc003wwm.2	-	14	4508	c.4064C>T	c.(4063-4065)tCc>tTc	p.S1355F	DLC1_uc003wwk.1_Missense_Mutation_p.S918F|DLC1_uc003wwl.1_Missense_Mutation_p.S952F|DLC1_uc011kxx.1_Missense_Mutation_p.S844F	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1355	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTTCTTATAGGACAGCTCAGC	0.493000														63			18		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94053657	94053657	+	Missense_Mutation	SNP	G	A	A	rs72658200		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94053657G>A	uc003ung.1	+	40	3046	c.2575G>A	c.(2575-2577)Ggc>Agc	p.G859S	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Non-coding_Transcript	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	859					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)	GGGACCTCCTGGCACTCCAGG	0.493000										HNSCC(75;0.22)				71			23		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17446124	17446125	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17446124_17446125CC>AT	uc002zlw.3	-	6	1430_1431	c.1322_1323GG>AT	c.(1321-1323)agg>aAT	p.R441N		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	441										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CATTGATGACCCTGTTGTTTCT	0.554000														37			10		0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115806300	115806300	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:115806300T>C	uc011lwz.1	-	3	671	c.643A>G	c.(643-645)Agg>Ggg	p.R215G	ZFP37_uc004bgm.1_Missense_Mutation_p.R200G|ZFP37_uc011lxa.1_Missense_Mutation_p.R201G	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	200						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S215I(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCAGATTTCCTTTTTACACAG	0.328000														96			51		0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724857	49724857	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:49724857C>T	uc009zlh.3	+	12	2396	c.2229C>T	c.(2227-2229)ctC>ctT	p.L743L	TROAP_uc001rtx.4_Intron	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	0					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GCCTGGCTCTCCCTCAGGAAG	0.607000														9			3		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539443	55539443	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:55539443G>A	uc003xsd.1	+	3	3149	c.3001G>A	c.(3001-3003)Gaa>Aaa	p.E1001K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1001					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGACACTGGTGAAGAAGATCT	0.383000														189			61		0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127944882	127944882	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:127944882C>T	uc002tod.2	-	7	1215	c.1084G>A	c.(1084-1086)Ggg>Agg	p.G362R	CYP27C1_uc021vnn.1_Missense_Mutation_p.G362R	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	362						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		TGGATGGGCCCCCCTGGCGTC	0.473000														60			33		0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31256287	31256287	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:31256287C>T	uc001rjt.1	+	24	2740	c.2489C>T	c.(2488-2490)tCt>tTt	p.S830F	DDX11_uc001rjr.1_Silent_p.L832L|DDX11_uc001rjs.1_Silent_p.L782L|DDX11_uc001rju.1_Silent_p.L504L|DDX11_uc001rjv.1_Missense_Mutation_p.S830F|DDX11_uc001rjw.1_Silent_p.L806L|DDX11_uc009zjn.1_Intron|DDX11_uc009zjo.1_Intron	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	830					G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AGGGAAGGCTCTGGTGGAGAA	0.637000										Multiple Myeloma(12;0.14)				18			8		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21481174	21481174	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:21481174G>A	uc002kuq.3	+	47	6174	c.6088G>A	c.(6088-6090)Gaa>Aaa	p.E2030K	LAMA3_uc002kur.3_Missense_Mutation_p.E1974K|LAMA3_uc002kus.4_Missense_Mutation_p.E421K|LAMA3_uc002kut.4_Missense_Mutation_p.E365K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2030	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTTTAAATGAATACGAAGC	0.507000														49			23		0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048773	6048773	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6048773G>A	uc010qzw.2	-	0	199	c.162C>T	c.(160-162)atC>atT	p.I54I		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I54I(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGATGGTGATCAGGAGGG	0.612000														60			34		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5042876	5042876	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:5042876C>T	uc002gau.1	+	21	3635	c.1405C>T	c.(1405-1407)Ccc>Tcc	p.P469S	USP6_uc002gav.1_Missense_Mutation_p.P469S|USP6_uc010ckz.1_Missense_Mutation_p.P152S|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	469					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCCTTGGTTCCCCCATTATGA	0.612000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									28			24		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370697	240370697	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240370697C>T	uc010pye.2	+	5	2822	c.2597C>T	c.(2596-2598)cCt>cTt	p.P866L	FMN2_uc010pyd.2_Missense_Mutation_p.P862L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	862	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCACCTCTGCCTTGCACAGAG	0.572000														127			29		0	0	1	0	0
PTK6	5753	broad.mit.edu	37	20	62165016	62165016	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62165016C>T	uc002yfg.3	-	3	598	c.558G>A	c.(556-558)agG>agA	p.R186R	PTK6_uc011aay.2_Silent_p.R85R|PTK6_uc011aaz.1_5'Flank	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	186						cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			CCTCCCTCGGCCTCTCCCAGT	0.632000														85			42		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167060583	167060583	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:167060583C>T	uc010fpl.3	-	25	4964	c.4623G>A	c.(4621-4623)gtG>gtA	p.V1541V	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1552						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTATAAAAACCACATTTATCC	0.353000														57			5		0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4827818	4827818	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:4827818C>T	uc002cxq.3	-	9	1321	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N	SEPT12_uc002cxr.3_Missense_Mutation_p.D307N|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	353					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TCATCAGAATCGTCATGGGCC	0.662000														4			3		0	0	1	0	0
SERTAD2	9792	broad.mit.edu	37	2	64863228	64863228	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:64863228G>A	uc021viq.1	-	0	778	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S	SERTAD2_uc002sde.2_Missense_Mutation_p.P260S	NM_014755	NP_055570	Q14140	SRTD2_HUMAN	Homo sapiens SERTA domain containing 2 (SERTAD2), mRNA.	260					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GAAGTGCAGGGGTCAAAATCA	0.512000														53			22		0	0	1	0	0
FAM98A	25940	broad.mit.edu	37	2	33810711	33810711	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:33810711G>A	uc002rpa.1	-	6	848	c.774C>T	c.(772-774)tcC>tcT	p.S258S	FAM98A_uc010yne.1_Silent_p.S63S|FAM98A_uc010ynd.1_Silent_p.S89S|FAM98A_uc002roz.1_Silent_p.S96S	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	259										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TAGTTTTAGGGGATAAGACTG	0.398000														102			35		0	0	1	0	0
C11orf74	119710	broad.mit.edu	37	11	36654959	36654959	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:36654959C>T	uc001mwy.1	+	2	335	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C	C11orf74_uc001mwx.1_Intron|C11orf74_uc001mwz.1_Intron|C11orf74_uc010rfe.1_Non-coding_Transcript|C11orf74_uc010rfd.2_Non-coding_Transcript	NM_138787	NP_620142	Q86VG3	CK074_HUMAN	Homo sapiens chromosome 11 open reading frame 74 (C11orf74), mRNA.	88										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				CATCTTTCTTCGTACTTCATC	0.308000														37			10		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24924372	24924372	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:24924372C>T	uc001ywo.3	+	0	3832	c.3358C>T	c.(3358-3360)Caa>Taa	p.Q1120*		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1120					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)		TCCTGCTTTTCAACAGTGCAT	0.468000														115			75		0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793740	17793740	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17793740G>A	uc009yhc.1	+	1	1154	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	KCNC1_uc001mnk.4_Missense_Mutation_p.E367K	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	367						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTACTACGCCGAGAGGATAGG	0.607000														51			16		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960599	143960599	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:143960599C>T	uc010mey.3	-	2	386	c.379G>A	c.(379-381)Gac>Aac	p.D127N	CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Missense_Mutation_p.D82N|CYP11B1_uc003yxj.3_Missense_Mutation_p.D82N	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	82					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-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)				Mitotane(DB00648)	CCTCCCAAGTCGTACCTGTGG	0.637000									Familial Hyperaldosteronism type I					61			31		0	0	1	0	0
NEURL	9148	broad.mit.edu	37	10	105330779	105330779	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105330779G>A	uc001kxh.3	+	1	646	c.236G>A	c.(235-237)aGc>aAc	p.S79N	NEURL_uc021pxn.1_Missense_Mutation_p.S62N	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	79	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ATGGACCTCAGCCACAAGGCT	0.647000														120			17		0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237284	30237284	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:30237284G>A	uc022buf.1	+	0	587	c.587G>A	c.(586-588)tGg>tAg	p.W196*	MAGEB2_uc004dbz.3_Nonsense_Mutation_p.W196*	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	196	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CTCAGTTCCTGGGACTTTCCC	0.488000														13			3		0	0	1	0	0
DIRC2	84925	broad.mit.edu	37	3	122525735	122525735	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122525735C>T	uc003efw.4	+	1	514	c.375C>T	c.(373-375)ttC>ttT	p.F125F	DIRC2_uc010hrl.3_Non-coding_Transcript|DIRC2_uc010hrm.3_Intron	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	Homo sapiens disrupted in renal carcinoma 2 (DIRC2), mRNA.	125					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TGACATCCTTCCTTATGGTTT	0.333000														60			27		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034562	52034562	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52034562G>A	uc002pwy.3	-	1	487	c.279C>T	c.(277-279)ttC>ttT	p.F93F	SIGLEC6_uc002pwz.3_Silent_p.F93F|SIGLEC6_uc010ydb.2_Silent_p.F57F|SIGLEC6_uc010ydc.2_Silent_p.F93F|SIGLEC6_uc002pxa.3_Silent_p.F93F|SIGLEC6_uc010eoz.2_Silent_p.F93F|SIGLEC6_uc010epa.2_Silent_p.F82F|SIGLEC6_uc010epb.2_Silent_p.F46F	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	93	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGAGGAGGTGGAATCGGCCCC	0.552000														108			35		0	0	1	0	0
HERC2P4	440362	broad.mit.edu	37	16	32163510	32163510	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:32163510G>A	uc002ecx.3	-	1		c.261C>T								Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA.																		TGCCCTTCGGGGTGATGCCAG	0.547000														78			10		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114154743	114154743	+	Silent	SNP	G	A	A	rs138653304	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:114154743G>A	uc001kzu.3	+	1	319	c.207G>A	c.(205-207)ccG>ccA	p.P69P	ACSL5_uc001kzs.3_Silent_p.P13P|ACSL5_uc001kzt.3_Silent_p.P13P|ACSL5_uc009xxz.3_Silent_p.P13P	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	13					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CCCCACTTCCGACCCCGGCGT	0.428000														143			64		0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87482336	87482336	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:87482336G>A	uc004aoa.1	+	14	2513	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	NTRK2_uc004any.1_Silent_p.K525K|NTRK2_uc004anz.1_Silent_p.K541K|NTRK2_uc011lsz.2_Silent_p.K541K|NTRK2_uc011lta.2_Silent_p.K525K|NTRK2_uc004aoc.3_Silent_p.K76K	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	525					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GTCAGCTCAAGCCAGACACAT	0.463000										TSP Lung(25;0.17)				157			41		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839329	62839329	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62839329G>A	uc002yii.3	+	6	1144	c.780G>A	c.(778-780)gaG>gaA	p.E260E	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	260	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACgaagaggaggacgaggagg	0.592000														9			5		0	0	1	0	0
TCP10	6953	broad.mit.edu	37	6	167786700	167786700	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:167786700C>T	uc003qvv.1	-	7	1150	c.938G>A	c.(937-939)gGa>gAa	p.G313E	TCP10_uc003qvu.3_Intron	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	340						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GTGCAGAGCTCCTGGAAATTC	0.527000														92			12		0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114386804	114386804	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:114386804G>A	uc009zwi.2	-	9	1254	c.1110C>T	c.(1108-1110)gtC>gtT	p.V370V	RBM19_uc001tvn.4_Silent_p.V370V|RBM19_uc001tvm.3_Silent_p.V370V|TRNA_Pseudo_uc021rec.1_5'Flank	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	370					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGGTGGTGGGGACGTTCTTTT	0.587000														168			21		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39872801	39872801	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39872801C>T	uc010lwy.1	+	10	1185	c.943C>T	c.(943-945)Cct>Tct	p.P315S	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Missense_Mutation_p.P56S|IDO2_uc003xnp.1_Missense_Mutation_p.P56S	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	302					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TTACATGCCTCCTTCCCATAA	0.463000														58			25		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10550730	10550730	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10550730C>T	uc002gmq.2	-	8	837	c.749G>A	c.(748-750)cGa>cAa	p.R250Q		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	250	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.R250Q(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AAAATGGATTCGGATGAACTT	0.483000														32			23		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553608	140553608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140553608G>A	uc003lit.3	+	0	1366	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	398	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E398K(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCATCTGTCGAAAACTTCTA	0.493000														53			36		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27157868	27157868	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:27157868C>T	uc011lno.2	+	1	534	c.92C>T	c.(91-93)tCc>tTc	p.S31F	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.S31F|TEK_uc003zqi.4_Missense_Mutation_p.S31F|TEK_uc011lnp.2_Intron|TEK_uc003zqj.1_Missense_Mutation_p.S8F	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	31					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTGATCAATTCCCTACCTCTT	0.458000														168			78		0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31540725	31540725	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31540725C>T	uc011dnu.1	+	2	333	c.120C>T	c.(118-120)ctC>ctT	p.L40L	LTA_uc003nue.1_Silent_p.L40L|LTA_uc003nuf.3_Non-coding_Transcript|LTA_uc003nuh.3_5'UTR|LTA_uc003nug.3_5'UTR|LTA_uc010jsr.3_Non-coding_Transcript|TNF_uc003nui.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	40					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	GTGTTGGCCTCACACCTTCAG	0.607000														51			5		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551856	99551856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:99551856G>A	uc010nmz.3	-	5	4542	c.2866C>T	c.(2866-2868)Cat>Tat	p.H956Y	PCDH19_uc004efw.4_Missense_Mutation_p.H908Y|PCDH19_uc004efx.4_Missense_Mutation_p.H909Y	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	956					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H956Y(2)|p.H409Y(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCCCGGCAATGAAATCCTTCA	0.473000														23			30		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37325588	37325588	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:37325588G>A	uc001caz.2	-	5	952	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	GRIK3_uc001cba.1_Missense_Mutation_p.R273C	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	273					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R273L(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCTGAGTAGCGGTAGGGCTCC	0.572000														73			17		0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20585753	20585753	+	Missense_Mutation	SNP	C	T	T	rs150087607		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20585753C>T	uc001vwo.1	+	0	188	c.188C>T	c.(187-189)tCg>tTg	p.S63L		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GCCCTCTTCTCGGTTATCTAT	0.408000														288			102		0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158139206	158139206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:158139206G>A	uc010jip.3	-	13	1807	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	EBF1_uc011ddw.2_Missense_Mutation_p.S370F|EBF1_uc011ddx.2_Missense_Mutation_p.S503F|EBF1_uc003lxl.4_Missense_Mutation_p.S471F	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	502	Pro/Ser/Thr-rich.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAGGTGGGGGAGCCGCCCAA	0.567000			T	HMGA2	lipoma									27			4		0	0	1	0	0
FITM1	161247	broad.mit.edu	37	14	24601911	24601911	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24601911C>T	uc001wmf.2	+	1	856	c.758C>T	c.(757-759)gCc>gTc	p.A253V		NM_203402	NP_981947	A5D6W6	FITM1_HUMAN	Homo sapiens fat storage-inducing transmembrane protein 1 (FITM1), mRNA.	253					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane		p.G252D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GTGGTGGGCGCCGCAGTGGGC	0.602000														68			30		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937111	21937111	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:21937111C>T	uc010tzj.1	-	0		c.3629G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		ATCTGTGCTTCATCCATGCAG	0.448000														214			43		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74635414	74635414	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74635414G>A	uc002axt.2	-	4	1049	c.894C>T	c.(892-894)taC>taT	p.Y298Y	CYP11A1_uc002axs.2_Silent_p.Y140Y|CYP11A1_uc010bjm.1_Silent_p.Y140Y|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Intron|CYP11A1_uc010ulj.1_Silent_p.Y78Y	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	298					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GGATGCCACGGTAATCGTGGT	0.512000														82			81		0	0	1	0	0
PYGO1	26108	broad.mit.edu	37	15	55838615	55838615	+	Missense_Mutation	SNP	G	A	A	rs79362849		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:55838615G>A	uc002adf.1	-	2	866	c.866C>T	c.(865-867)tCa>tTa	p.S289L	PYGO1_uc010bfl.1_Missense_Mutation_p.S289L	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.	289	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		AGTGCTACTTGAACGGCTGTT	0.423000														347			69		0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166987	180166987	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:180166987C>T	uc003mmf.1	-	0	72	c.72G>A	c.(70-72)gaG>gaA	p.E24E		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGGATGGGCTCCAGTTGCG	0.473000														32			11		0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43913099	43913099	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:43913099C>T	uc002zbg.3	-	1	250	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA.	49					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TTACCGAATTCGTAGCTCCCT	0.502000														252			58		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190194	209190194	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:209190194C>T	uc002vcz.3	+	19	2817	c.2659C>T	c.(2659-2661)Cct>Tct	p.P887S	PIKFYVE_uc010fun.1_Missense_Mutation_p.P568S|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P831S	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	887					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AATGCAAAACCCTTCATTCCA	0.468000														90			34		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10648094	10648094	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:10648094C>T	uc010rcc.1	-	8	1173	c.787G>A	c.(787-789)Gac>Aac	p.D263N	MRVI1_uc010rcb.1_Missense_Mutation_p.D255N|MRVI1_uc001miw.2_Missense_Mutation_p.D254N|MRVI1_uc001mix.3_5'UTR|MRVI1_uc001miz.2_Missense_Mutation_p.D172N|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	236					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCCTCTGGTCATTCTGCTTC	0.532000														21			8		0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89261523	89261523	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89261523C>T	uc002fmt.3	+	13	2482	c.2405C>T	c.(2404-2406)cCt>cTt	p.P802L		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	802					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGTCTTTCTCCTGGGGCACTG	0.687000														21			16		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26849116	26849116	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:26849116G>A	uc001iss.3	+	11	1559	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E		NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	413	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		p.G413A(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TGGGTCATGGGAATACGGATA	0.498000														93			20		0	0	1	0	0
PABPC1P2	728773	broad.mit.edu	37	2	147345549	147345549	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:147345549G>A	uc002twf.4	+	0	925	c.9G>A	c.(7-9)ggG>ggA	p.G3G						Homo sapiens poly(A) binding protein, cytoplasmic 1 pseudogene 2 (PABPC1P2), non-coding RNA.																		AAATGGATGGGATGCTCCTGA	0.438000														10			7		0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39170381	39170381	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:39170381C>T	uc003cjc.2	+	13	2052	c.1875C>T	c.(1873-1875)atC>atT	p.I625I	TTC21A_uc011ayx.1_Silent_p.I577I|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	625							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGGCATCCATCTTATTGGAAC	0.552000														68			31		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26242165	26242165	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26242165G>A	uc003abz.1	+	18	3717	c.3467G>A	c.(3466-3468)aGg>aAg	p.R1156K	MYO18B_uc003aca.1_Missense_Mutation_p.R1037K|MYO18B_uc010guy.1_Missense_Mutation_p.R1038K|MYO18B_uc010guz.1_Missense_Mutation_p.R1037K|MYO18B_uc011aka.1_Missense_Mutation_p.R310K|MYO18B_uc011akb.1_Missense_Mutation_p.R669K	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1156	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			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						GCCCTGCAGAGGAGCCGCATG	0.667000														26			15		0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51133180	51133180	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51133180C>T	uc002pst.3	-	2	1557	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	SYT3_uc002psv.3_Missense_Mutation_p.R308Q|SYT3_uc010ycd.2_Missense_Mutation_p.R308Q	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	308	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.R308Q(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		ATAGAGGTACCGCAGGGCGAA	0.672000														105			8		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55501474	55501474	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55501474C>T	uc021vbq.1	+	8	2562	c.2451C>T	c.(2449-2451)aaC>aaT	p.N817N	NLRP2_uc010yfp.2_Silent_p.N794N|NLRP2_uc002qij.3_Silent_p.N817N|NLRP2_uc010esp.3_Silent_p.N795N|NLRP2_uc010esn.3_Silent_p.N793N|NLRP2_uc010eso.3_Silent_p.N814N	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	817					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CGTGCGTAAACCTCTCCGACA	0.522000														79			35		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85399823	85399823	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:85399823G>A	uc002ble.3	+	5	2627	c.2460G>A	c.(2458-2460)gtG>gtA	p.V820V		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	820					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)			AGATACAAGTGGATGGAAGGA	0.522000														78			16		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72345460	72345460	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:72345460G>A	uc002jkm.4	+	9	1323	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q	KIF19_uc002jkj.2_Silent_p.Q395Q|KIF19_uc002jkk.2_Silent_p.Q353Q|KIF19_uc002jkl.2_Silent_p.Q353Q	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	395					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GGGGCCGGCAGGATCGGGGTG	0.662000														17			12		0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87448052	87448052	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:87448052G>A	uc002fjz.1	-	9	1187	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Missense_Mutation_p.P163L	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	387					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CGACTGCACGGGCCCGACGTG	0.672000														43			13		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494140	55494140	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55494140C>T	uc021vbq.1	+	5	1185	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	NLRP2_uc010yfp.2_Silent_p.G335G|NLRP2_uc002qij.3_Silent_p.G358G|NLRP2_uc010esp.3_Silent_p.G336G|NLRP2_uc010esn.3_Silent_p.G334G|NLRP2_uc010eso.3_Silent_p.G355G	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	358	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGGTGGAGGGCTTCCTGGAGG	0.622000														35			4		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206166306	206166306	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:206166306G>A	uc002var.2	+	17	2718	c.2511G>A	c.(2509-2511)acG>acA	p.T837T	PARD3B_uc010fub.2_Silent_p.T837T|PARD3B_uc002vao.2_Silent_p.T837T|PARD3B_uc002vap.2_Silent_p.T775T|PARD3B_uc002vaq.2_Silent_p.T768T	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	837	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCAAAAAAACgaaagagaagg	0.433000														42			26		0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143827007	143827007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143827007G>A	uc011kua.2	+	0	802	c.802G>A	c.(802-804)Gag>Aag	p.E268K		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCATCCTGAGGAGCAGCAGAA	0.542000														173			65		0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31682918	31682918	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31682918C>T	uc010zue.2	+	9	1372	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	453						cytoplasm|extracellular region	lipid binding										TGAAGAGCTTCCTCCACTTAC	0.488000														143			60		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32927476	32927476	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:32927476G>A	uc003cff.3	+	2	1134	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	357					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGATGAAGGCGAAGGTTGTGC	0.552000														57			31		0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38266165	38266165	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38266165C>T	uc003chy.3	+	7	1148	c.806C>T	c.(805-807)tCa>tTa	p.S269L	OXSR1_uc010hhb.3_Missense_Mutation_p.S203L|OXSR1_uc010hha.1_Missense_Mutation_p.S201L	NM_005109	NP_005100	O95747	OXSR1_HUMAN	Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.	269	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAAATGATTTCATTGTGCCTT	0.313000														40			13		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967191	41967191	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:41967191C>T	uc010skn.2	+	9	2618	c.2610C>T	c.(2608-2610)ctC>ctT	p.L870L	PDZRN4_uc001rmq.4_Silent_p.L612L|PDZRN4_uc009zjz.3_Silent_p.L610L|PDZRN4_uc001rmr.3_Silent_p.L497L	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	870							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGAGTCAGCTCAGCTTGGTGA	0.468000														95			49		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6939120	6939120	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6939120G>A	uc001qra.1	+	2	627	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	GPR162_uc001qrb.1_Missense_Mutation_p.R6Q|GPR162_uc001qqy.1_Missense_Mutation_p.R134Q	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						AAGTACAGACGAATGTCGGGA	0.592000														101			15		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599804	29599804	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:29599804G>A	uc001usl.4	+	0	1057	c.999G>A	c.(997-999)gaG>gaA	p.E333E		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	323						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTGAACAGGAGGGAAAGGCAG	0.532000														37			13		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47511092	47511092	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:47511092G>A	uc002leb.2	-	7	1230	c.942C>T	c.(940-942)ctC>ctT	p.L314L	MYO5B_uc021ukb.1_Silent_p.L313L	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	314	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCTTACCGAGGAGTGTGAAGG	0.552000														62			23		0	0	1	0	0
KIAA1609	57707	broad.mit.edu	37	16	84520383	84520383	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84520383G>A	uc002fib.3	-	4	919	c.812C>T	c.(811-813)tCg>tTg	p.S271L	KIAA1609_uc010vod.2_Missense_Mutation_p.S244L	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	Homo sapiens KIAA1609 (KIAA1609), mRNA.	271	TLD.						protein binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2)	18						GAGCTCAGACGAAAAGAGCAG	0.597000														37			18		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40594355	40594355	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40594355C>T	uc001zld.3	-	5	789	c.488G>A	c.(487-489)gGg>gAg	p.G163E	PLCB2_uc010bbo.3_Missense_Mutation_p.G163E|PLCB2_uc010ucm.2_Missense_Mutation_p.G163E|PLCB2_uc001zle.4_Missense_Mutation_p.G163E	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	163					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CGGAATCTTCCCTTCAGAGTT	0.612000														216			16		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122377072	122377072	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:122377072G>A	uc022akp.1	-	1	812	c.390C>T	c.(388-390)ctC>ctT	p.L130L	CADPS2_uc022akq.1_Silent_p.L130L|CADPS2_uc010lkq.3_Silent_p.L130L|CADPS2_uc022akr.1_Silent_p.L130L	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	130					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTTCCCCATTGAGGAAGGCCT	0.398000														29			17		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631943	32631943	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:32631943G>A	uc003zrg.1	-	0	3725	c.3635C>T	c.(3634-3636)gCc>gTc	p.A1212V	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.	1212					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)		GCGCACATAGGCATCAATGAC	0.448000														94			61		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420437	55420437	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:55420437C>T	uc001sgp.4	+	1	592	c.214C>T	c.(214-216)Ccc>Tcc	p.P72S	NEUROD4_uc021qyr.1_Missense_Mutation_p.P72S	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	72					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G71C(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GAGAAGGGGTCCCAAGAAAAA	0.483000														39			10		0	0	1	0	0
ZNF439	90594	broad.mit.edu	37	19	11978185	11978185	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11978185C>T	uc002mss.3	+	2	429	c.301C>T	c.(301-303)Cca>Tca	p.P101S	ZNF439_uc002msr.3_5'UTR	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	Homo sapiens zinc finger protein 439 (ZNF439), mRNA.	101	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AACTTTTACCCCAGTTCCAGA	0.388000														219			16		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7701593	7701593	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:7701593C>T	uc002giu.1	+	52	8363	c.8349C>T	c.(8347-8349)acC>acT	p.T2783T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2783	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACTACACCACCTTCCAGATCG	0.542000														33			30		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833388	168833388	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:168833388G>A	uc011bpj.1	-	7	2675	c.2272C>T	c.(2272-2274)Ccc>Tcc	p.P758S	MECOM_uc010hwk.1_Missense_Mutation_p.P593S|MECOM_uc003ffj.3_Missense_Mutation_p.P635S|MECOM_uc003ffi.3_Missense_Mutation_p.P570S|MECOM_uc011bpi.1_Missense_Mutation_p.P571S|MECOM_uc003ffn.3_Missense_Mutation_p.P570S|MECOM_uc003ffk.2_Missense_Mutation_p.P570S|MECOM_uc003ffl.2_Missense_Mutation_p.P730S|MECOM_uc011bpk.1_Missense_Mutation_p.P570S|MECOM_uc010hwn.2_Missense_Mutation_p.P758S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGCTTGGAGGGGACTGGAGTC	0.547000														54			14		0	0	1	0	0
SLC24A5	283652	broad.mit.edu	37	15	48431226	48431226	+	Missense_Mutation	SNP	C	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:48431226C>A	uc001zwe.3	+	6	1005	c.932C>A	c.(931-933)tCc>tAc	p.S311Y	SLC24A5_uc010bel.3_Missense_Mutation_p.S251Y|AK021664_uc001zwf.1_5'Flank|SLC24A5_uc001zwk.3_5'Flank	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	Homo sapiens solute carrier family 24, member 5 (SLC24A5), mRNA.	311					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TGGGTATTATCCCTTCCTATT	0.318000														71			29		2.4375e-19	2.45089e-19	1	1	0
NEB	4703	broad.mit.edu	37	2	152544005	152544005	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152544005C>T	uc021vrb.1	-	24	2594	c.2565G>A	c.(2563-2565)atG>atA	p.M855I	NEB_uc002txu.3_Missense_Mutation_p.M855I|NEB_uc021vrc.1_Missense_Mutation_p.M855I|NEB_uc010fnx.3_Missense_Mutation_p.M855I|NEB_uc021vrd.1_Missense_Mutation_p.M855I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	855					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGCTCCAATCATTTTCCCTT	0.458000														173			19		0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78379475	78379475	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:78379475G>A	uc003kft.3	+	6	865	c.806G>A	c.(805-807)aGa>aAa	p.R269K	BHMT2_uc011cth.2_Missense_Mutation_p.R205K	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA.	269	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GTTGCCACCAGATGGGATATT	0.458000														54			16		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134385	128134385	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:128134385G>A	uc011ebt.2	-	3	1550	c.1401C>T	c.(1399-1401)tcC>tcT	p.S467S	THEMIS_uc010kfa.3_Silent_p.S370S|THEMIS_uc021zfa.1_Silent_p.S467S|THEMIS_uc010kfb.3_Silent_p.S432S	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	467	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CCTCTTCAATGGAAAGATCCC	0.473000														35			32		0	0	1	0	0
ZFP62	643836	broad.mit.edu	37	5	180277487	180277487	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:180277487G>A	uc011dhf.2	-	1	1075	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P	ZFP62_uc011dhe.2_Silent_p.P303P|ZFP62_uc003mmm.4_Intron|ZFP62_uc010jlk.3_Silent_p.P303P|ZFP62_uc021yjo.1_Silent_p.P303P	NM_001172638	NP_001166109	Q8NB50	ZFP62_HUMAN	Homo sapiens zinc finger protein 62 homolog (mouse) (ZFP62), transcript variant 2, mRNA.	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACATTTATAGGGTTTATCTC	0.378000														4			3		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97167502	97167502	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:97167502C>T	uc010how.1	+	6	1865	c.1822C>T	c.(1822-1824)Cac>Tac	p.H608Y	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.4_5'UTR|EPHA6_uc003drr.4_5'UTR|EPHA6_uc003drt.3_5'UTR|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	513						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						ATATGTATTTCACATCCGAGT	0.443000														100			13		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50103168	50103168	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50103168C>T	uc002poo.4	+	4	4318	c.4318C>T	c.(4318-4320)Ccc>Tcc	p.P1440S		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	619							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TCCGGGGCTCCCCAGTGCCAA	0.612000														33			7		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24460566	24460566	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:24460566C>T	uc003ned.1	-	11	1060	c.949G>A	c.(949-951)Gac>Aac	p.D317N	GPLD1_uc010jpr.1_Missense_Mutation_p.D154N|GPLD1_uc010jps.1_Missense_Mutation_p.D317N	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	317						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						ATATTCCTGTCAACACTTTCA	0.373000														184			18		0	0	1	0	0
USP41	373856	broad.mit.edu	37	22	20729877	20729877	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:20729877G>A	uc011ahq.1	-	1	147	c.81C>T	c.(79-81)ttC>ttT	p.F27F	USP41_uc011ahp.1_5'Flank					RecName: Full=Putative ubiquitin carboxyl-terminal hydrolase 41;          EC=3.4.19.12; AltName: Full=Deubiquitinating enzyme 41; AltName: Full=Ubiquitin thiolesterase 41; AltName: Full=Ubiquitin-specific-processing protease 41;											endometrium(1)|kidney(1)|lung(2)|skin(1)	5						GAAGCATCTGGAAAGGGACGC	0.572000														22			4		0	0	1	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39477000	39477000	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:39477000G>A	uc021wpr.1	+	2	527	c.234G>A	c.(232-234)agG>agA	p.R78R	APOBEC3F_uc003awx.3_Silent_p.R78R|APOBEC3F_uc003awy.3_Silent_p.R11R	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	78					DNA cytosine deamination|base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	RNA binding|cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GCAAGTGGAGGAAGCTGCATC	0.552000														40			23		0	0	1	0	0
BRS3	680	broad.mit.edu	37	X	135574322	135574322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:135574322C>T	uc004ezv.1	+	2	1137	c.988C>T	c.(988-990)Ctc>Ttc	p.L330F		NM_001727	NP_001718	P32247	BRS3_HUMAN	Homo sapiens bombesin-like receptor 3 (BRS3), mRNA.	330					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CCCCTTTGCTCTCTACTGGCT	0.478000														73			106		0	0	1	0	0
CLDN18	51208	broad.mit.edu	37	3	137717743	137717743	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:137717743C>T	uc003ero.1	+	0	86	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	11					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCTTGGGGTTCGTGGTTTCAC	0.557000														78			28		0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101206358	101206358	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:101206358G>A	uc003yjh.2	+	9	1044	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	SPAG1_uc003yjg.1_Missense_Mutation_p.E320K|SPAG1_uc003yji.2_Missense_Mutation_p.E320K	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	320					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GTCAGAGGTTGAAAGAGATCT	0.313000														52			11		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139193282	139193282	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:139193282G>A	uc003leu.1	+	2	965	c.760G>A	c.(760-762)Ggc>Agc	p.G254S		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	254					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)			TGGCCCTCAGGGCCCAGGGGG	0.622000														20			9		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1092112	1092112	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1092112G>A	uc001lsx.1	+	29	3958	c.3931G>A	c.(3931-3933)Gag>Aag	p.E1311K		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1311						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGGATCAATGAGGACCACCC	0.592000														17			10		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679051	100679051	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100679051G>A	uc003uxp.1	+	2	4407	c.4354G>A	c.(4354-4356)Gaa>Aaa	p.E1452K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1452	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTAGTGAAGGAAAGAC	0.493000														454			98		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142572322	142572322	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142572322G>A	uc003wbx.2	-	10	1603	c.1374C>T	c.(1372-1374)ctC>ctT	p.L458L	TRPV6_uc003wbw.1_Silent_p.L244L|TRPV6_uc010lou.1_Silent_p.L329L	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	458					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGCCCAGCACGAGTGCAAAGG	0.592000														44			22		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48372493	48372493	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48372493G>A	uc001rqu.3	-	41	2963	c.2782C>T	c.(2782-2784)Ccc>Tcc	p.P928S	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P859S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	928	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GCACCTTTGGGACCATCTTTT	0.627000														40			12		0	0	1	0	0
TBX6	6911	broad.mit.edu	37	16	30100386	30100386	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30100386G>A	uc010veh.2	-	3	559	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	BOLA2_uc010bzb.1_Intron|TBX6_uc002dwk.1_Missense_Mutation_p.R167C	NM_004608	NP_004599	O95947	TBX6_HUMAN	Homo sapiens T-box 6 (TBX6), mRNA.	167					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						TCAGGCAGGCGGGGCTCTGCC	0.632000														85			9		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175365684	175365684	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175365684G>A	uc001gkp.1	-	2	1317	c.1236C>T	c.(1234-1236)gcC>gcT	p.A412A	TNR_uc009wwu.1_Silent_p.A412A|TNR_uc010pmz.1_3'UTR	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	412	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)					ACGTACGGGTGGCCACCTTGG	0.502000														60			23		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47390600	47390600	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:47390600C>T	uc002leb.2	-	27	4042	c.3754G>A	c.(3754-3756)Gag>Aag	p.E1252K	MYO5B_uc002lea.2_Missense_Mutation_p.E393K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1252					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.H1251H(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCGAGCTCCTCGTGGGCCAGC	0.637000														81			21		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32065044	32065044	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32065044G>A	uc003nzl.2	-	2	788	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	196	EGF-like 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGGACACAGCGACCCTGATCA	0.667000														15			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085580	9085580	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9085580C>T	uc002mkp.3	-	0	6439	c.6235G>A	c.(6235-6237)Ggg>Agg	p.G2079R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2079	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G2079W(3)|p.S2078A(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						TTTGAAACCCCAGAATGGCCT	0.473000														113			54		0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9783763	9783763	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:9783763C>T	uc002gmd.1	+	10	1214	c.1214C>T	c.(1213-1215)aCt>aTt	p.T405I		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	405					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TCTTTCATCACTGATGATCAA	0.383000														93			64		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6702214	6702214	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6702214C>T	uc002mfm.3	-	18	2426	c.2364G>A	c.(2362-2364)acG>acA	p.T788T		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	788					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.T788T(2)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCATGAGCTTCGTAGAGATTC	0.512000														60			14		0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230798890	230798890	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:230798890C>T	uc001htw.3	+	3	455	c.304C>T	c.(304-306)Ctt>Ttt	p.L102F	COG2_uc001htx.3_Missense_Mutation_p.L102F|COG2_uc010pwc.2_5'UTR	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	102					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTTAAAGAGCCTTAGATCGTC	0.318000														64			9		0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094037	46094037	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46094037C>T	uc002pcm.3	-	1	2033	c.1088G>A	c.(1087-1089)tGa>tAa	p.*363*	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Splice_Site_p.*363_splice	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	0						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACTCGGGGTTCATTGTGCTGG	0.577000														46			22		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197036339	197036339	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197036339G>A	uc001gtt.1	-	0	59	c.15C>T	c.(13-15)aaC>aaT	p.N5N		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	5					blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAAAAGTCAGGTTTTTCAACC	0.308000														39			15		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896986	175896986	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:175896986G>A	uc003iuc.3	+	4	980	c.310G>A	c.(310-312)Ggt>Agt	p.G104S	ADAM29_uc003iud.3_Missense_Mutation_p.G104S|ADAM29_uc010irr.3_Missense_Mutation_p.G104S|ADAM29_uc011cki.2_Missense_Mutation_p.G104S|ADAM29_uc021xuo.1_Missense_Mutation_p.G104S	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	104					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTACTATCATGGTTATGTGGA	0.438000														51			21		0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	110222987	110222987	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:110222987G>A	uc021xqo.1	-	0	245	c.189C>T	c.(187-189)atC>atT	p.I63I	COL25A1_uc003hze.1_Silent_p.I63I|COL25A1_uc021xqp.1_Silent_p.I63I|COL25A1_uc003hzg.3_Silent_p.I63I|COL25A1_uc003hzh.1_Silent_p.I63I	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	63						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CGAGAGCGGCGATCCTCGCCT	0.607000														149			11		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101839977	101839977	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:101839977C>T	uc003uys.4	+	14	1446	c.1319C>T	c.(1318-1320)cCc>cTc	p.P440L	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.P429L	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	429					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G439V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TTGCCGGCCCCCCCTCCTTCT	0.567000														87			34		0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10291286	10291286	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:10291286C>T	uc011atr.2	+	1	983	c.402C>T	c.(400-402)gcC>gcT	p.A134A	TATDN2_uc003bvg.2_Silent_p.A134A|TATDN2_uc003bvf.3_Silent_p.A134A|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	134						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AGGAGGAAGCCTGCAGCCTTA	0.562000														52			13		0	0	1	0	0
PMVK	10654	broad.mit.edu	37	1	154898850	154898850	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154898850C>T	uc001ffq.3	-	3	745	c.422G>A	c.(421-423)cGg>cAg	p.R141Q		NM_006556	NP_006547	Q15126	PMVK_HUMAN	Homo sapiens phosphomevalonate kinase (PMVK), mRNA.	141					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CACCCAGCCCCGCTGCTGTCG	0.632000														34			17		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175137	143175137	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143175137C>T	uc003wdc.1	+	0	172	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	58					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCGCTTCTGCCTGCAGTTGGT	0.567000														104			22		0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46310067	46310067	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:46310067C>T	uc002zgd.2	-	10	1527	c.1483G>A	c.(1483-1485)Gga>Aga	p.G495R	ITGB2_uc002zgf.3_Missense_Mutation_p.G495R|ITGB2_uc011afl.1_Missense_Mutation_p.G417R|ITGB2_uc010gpw.2_Missense_Mutation_p.G438R|ITGB2_uc002zgg.2_Missense_Mutation_p.G495R	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	495	Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CGGCAGCTTCCTTCCAGCTCC	0.632000														25			12		0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6309800	6309800	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6309800G>A	uc002mel.2	-	3	474	c.396C>T	c.(394-396)acC>acT	p.T132T		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	132						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						AGGACAGAAGGGTGCTGACCA	0.597000														59			13		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72992967	72992967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:72992967G>A	uc002fck.3	-	1	1751	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	360					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTGTGTCCGGGGCCTATGAGG	0.522000														78			50		0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169663602	169663602	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:169663602G>A	uc011bpp.2	-	1		c.4201C>T								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		AGAGGGGAAAGACCACTCTTC	0.423000														16			5		0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21331581	21331581	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21331581G>A	uc001req.4	+	5	657	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	185					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TGGAATAGGGGAGACTCCCAT	0.348000														114			37		0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31774775	31774775	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:31774775C>T	uc021wuu.1	-	5	1740	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	OSBPL10_uc003ceu.1_Missense_Mutation_p.E114K|OSBPL10_uc011axf.2_Missense_Mutation_p.E293K	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	357					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GAGGTTTGTTCGTCTTCAGCA	0.453000														118			26		0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516120	138516120	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:138516120G>A	uc010nbd.1	-	4	908	c.654C>T	c.(652-654)atC>atT	p.I218I		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	218					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		GTCCAAACGGGATGCAAGCTG	0.493000														100			18		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40979312	40979312	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:40979312G>A	uc002xkg.3	-	10	2005	c.1821C>T	c.(1819-1821)atC>atT	p.I607I	PTPRT_uc010ggj.3_Silent_p.I607I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	607	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCATCACTGTGATGGTCGTGT	0.532000														105			44		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127668645	127668645	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:127668645C>T	uc003kuu.3	-	31	4620	c.4181G>A	c.(4180-4182)aGc>aAc	p.S1394N	FBN2_uc003kuv.2_Missense_Mutation_p.S1361N	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1394	EGF-like 22; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTCTCTGCAGCTACACTTGAA	0.398000														192			50		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875780	247875780	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247875780G>A	uc001idj.1	-	0	278	c.278C>T	c.(277-279)tCa>tTa	p.S93L		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCTTGTAAATGATATGGTCTG	0.483000														86			18		0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28617391	28617391	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:28617391G>A	uc002dqn.3	-	9	1626	c.1034C>T	c.(1033-1035)cCc>cTc	p.P345L	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.P254L|SULT1A1_uc002dqi.3_Missense_Mutation_p.P254L|SULT1A1_uc002dqk.3_Missense_Mutation_p.P254L|SULT1A1_uc002dql.3_Missense_Mutation_p.P254L|SULT1A1_uc002dqm.3_Missense_Mutation_p.P176L|SULT1A1_uc002dqp.3_Missense_Mutation_p.P254L	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	254					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						CCTCATGAAGGGGGAGATGCT	0.607000														199			47		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72071175	72071175	+	Silent	SNP	G	A	A	rs112803189		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:72071175G>A	uc004ahh.2	-	7	2052	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	592	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.F592F(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CCTCAGACTCGAAGACGTGGC	0.522000														157			44		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995641	140995641	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140995641C>T	uc004fbt.3	+	3	2775	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.F476F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	817							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)					TGAGCTCCTTCCCCTCCTCCA	0.557000										HNSCC(15;0.026)				125			85		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545613	234545613	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234545613C>T	uc002vur.3	+	0	491	c.445C>T	c.(445-447)Cct>Tct	p.P149S	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.P149S	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	152					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GTTTCTGGATCCTTTTGATAC	0.383000														144			72		0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096880	73096880	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:73096880C>T	uc002jmr.3	+	4	1494	c.1122C>T	c.(1120-1122)ggC>ggT	p.G374G	SLC16A5_uc002jmt.3_Silent_p.G374G|SLC16A5_uc002jmu.3_Silent_p.G374G|SLC16A5_uc010wrt.2_Silent_p.G414G	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	374					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TCCTGGACGGCCTTGCTTTCC	0.592000														11			11		0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	99999541	99999541	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99999541C>T	uc003uut.3	-	16	1843	c.1595G>A	c.(1594-1596)gGc>gAc	p.G532D	ZCWPW1_uc011kjq.2_Missense_Mutation_p.G412D|ZCWPW1_uc003uur.3_Intron|ZCWPW1_uc003uus.3_Intron|ZCWPW1_uc011kjr.2_Intron|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	532							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATTCCCTTGGCCTTCTTTCCT	0.527000														93			38		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513335	99513335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:99513335G>A	uc003dti.1	+	2	721	c.593G>A	c.(592-594)gGa>gAa	p.G198E	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G197E|COL8A1_uc003dth.1_Missense_Mutation_p.G197E	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	197	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGACCACAAGGACCTCCAGGG	0.587000														46			18		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25543330	25543330	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:25543330G>A	uc002kwg.2	-	14	2964	c.2505C>T	c.(2503-2505)ttC>ttT	p.F835F	CDH2_uc010xbn.1_Silent_p.F804F	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	835					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCTCATTAATGAAGTCCCCAA	0.488000														29			9		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53012265	53012266	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53012265_53012266CC>TT	uc001sas.3	-	0	78_79	c.43_44GG>AA	c.(43-45)ggg>AAg	p.G15K		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	15	Gly-rich.|Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTGAAGCCCCCCTTGGCAGCA	0.614000														80			21		0	0	1	0	0
IL2RA	3559	broad.mit.edu	37	10	6063514	6063514	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:6063514C>T	uc001iiz.2	-	3	729	c.510G>A	c.(508-510)atG>atA	p.M170I	IL2RA_uc009xih.2_Intron|IL2RA_uc001ija.1_Intron	NM_000417	NP_000408	P01589	IL2RA_HUMAN	Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	170	Sushi 2.				cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCCCGTGGGTCATTTTGCAGA	0.537000														144			54		0	0	1	0	0
AVEN	57099	broad.mit.edu	37	15	34159851	34159851	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:34159851G>A	uc001zhj.3	-	4	874	c.818C>T	c.(817-819)tCc>tTc	p.S273F		NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	Homo sapiens apoptosis, caspase activation inhibitor (AVEN), mRNA.	273					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		CTGCAGTGGGGAAGTGGGTTT	0.488000														93			57		0	0	1	0	0
KIAA0317	9870	broad.mit.edu	37	14	75136738	75136738	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75136738G>A	uc001xqb.3	-	13	2205	c.1700C>T	c.(1699-1701)tCt>tTt	p.S567F	KIAA0317_uc010tut.1_Missense_Mutation_p.S406F	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	567	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		TCCTCCTAGAGAGGACTCATA	0.542000														113			9		0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133428221	133428221	+	Missense_Mutation	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:133428221C>G	uc001ulf.2	-	11	1595	c.1511G>C	c.(1510-1512)cGt>cCt	p.R504P	CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001uld.2_Missense_Mutation_p.R463P|CHFR_uc001ule.2_Missense_Mutation_p.R492P|CHFR_uc010tbs.1_Missense_Mutation_p.R503P|CHFR_uc010tbt.1_Missense_Mutation_p.R412P	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	Homo sapiens checkpoint with forkhead and ring finger domains (CHFR), transcript variant 1, mRNA.	504					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		AGGGGCGACACGCGGGTCCTG	0.657000														93			58		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127615	152127615	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152127615C>T	uc001ezs.1	-	2	2025	c.1960G>A	c.(1960-1962)Gat>Aat	p.D654N		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	654	Gln-rich.					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						TGTTGGCTATCCTCTTCAGGC	0.507000														89			26		0	0	1	0	0
PNKP	11284	broad.mit.edu	37	19	50370385	50370385	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50370385G>A	uc002pqj.3	-	1	187	c.77C>T	c.(76-78)tCg>tTg	p.S26L	PNKP_uc002pqg.3_5'Flank|PNKP_uc002pqi.3_5'UTR|PNKP_uc021uxx.1_Missense_Mutation_p.S26L	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA.	26					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TTGCCCGTCCGAGGGCAGGAA	0.726000								Other BER factors						51			13		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301421	11301421	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:11301421C>T	uc010hdr.3	+	1	1040	c.698C>T	c.(697-699)tCc>tTc	p.S233F	HRH1_uc010hds.3_Missense_Mutation_p.S233F|HRH1_uc010hdt.3_Missense_Mutation_p.S233F|HRH1_uc003bwb.4_Missense_Mutation_p.S233F|HRH1_uc021wtb.1_Missense_Mutation_p.S233F	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	233					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	p.S233S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCCCTCCCTTCCTTCTCAGAA	0.532000														62			10		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716551	13716551	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:13716551C>T	uc001rbt.2	-	12	3800	c.3621G>A	c.(3619-3621)gaG>gaA	p.E1207E		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1207					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGGACCGGTCCTCCCACTCCA	0.637000														75			30		0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242757862	242757862	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242757862G>A	uc002wcp.2	+	3	1476	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	NEU4_uc010fzr.3_Missense_Mutation_p.E315K|NEU4_uc002wcm.3_Missense_Mutation_p.E315K|NEU4_uc002wco.2_Missense_Mutation_p.E315K|NEU4_uc002wcn.2_Missense_Mutation_p.E327K	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	315	Pro-rich.					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TGGAGTCCACGAACCCCCAGA	0.716000														21			3		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522956	23522956	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:23522956G>A	uc003jgo.3	+	7	1026	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	282	SET.				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						CCGAATTACAGAAGACGAAGA	0.552000										HNSCC(3;0.000094)				104			30		0	0	1	0	0
SAMD8	142891	broad.mit.edu	37	10	76910586	76910586	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:76910586C>T	uc001jwx.2	+	1	403	c.300C>T	c.(298-300)ttC>ttT	p.F100F	SAMD8_uc001jwy.2_Silent_p.F100F	NM_001174156	NP_001167627	Q96LT4	SAMD8_HUMAN	Homo sapiens sterile alpha motif domain containing 8 (SAMD8), transcript variant 1, mRNA.	100					sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGACCCCTTTCATCAGTGCTC	0.448000														86			32		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43749110	43749110	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43749110G>A	uc001zrs.3	-	11	1829	c.1681C>T	c.(1681-1683)Cct>Tct	p.P561S	TP53BP1_uc010udp.2_Missense_Mutation_p.P561S|TP53BP1_uc001zrq.4_Missense_Mutation_p.P566S|TP53BP1_uc001zrr.4_Missense_Mutation_p.P566S|TP53BP1_uc010udq.1_Missense_Mutation_p.P566S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	561					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTTTCAGCAGGAACAAATTTA	0.413000								Other conserved DNA damage response genes						103			8		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111540084	111540084	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:111540084G>A	uc003kpv.1	-	14	1638	c.1364C>T	c.(1363-1365)cCt>cTt	p.P455L	EPB41L4A_uc003kpp.1_Missense_Mutation_p.P82L	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	455						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)		CCTCCTCACAGGCTGTACAGA	0.483000														131			57		0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112070448	112070448	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:112070448C>T	uc001pnf.3	+	5	880	c.763C>T	c.(763-765)Cct>Tct	p.P255S	BCO2_uc001pne.1_Missense_Mutation_p.P82S|BCO2_uc001png.3_Missense_Mutation_p.P182S|BCO2_uc001pnh.3_Missense_Mutation_p.P221S|BCO2_uc010rwt.2_Missense_Mutation_p.P150S|BCO2_uc009yyn.3_Missense_Mutation_p.P221S|BCO2_uc001pni.3_Missense_Mutation_p.P221S	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	255					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TATTCGGGTTCCTCCAGAGAA	0.403000														104			42		0	0	1	0	0
GPR56	9289	broad.mit.edu	37	16	57685473	57685473	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:57685473C>T	uc002emb.2	+	3	718	c.426C>T	c.(424-426)tcC>tcT	p.S142S	GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Silent_p.S142S|GPR56_uc002emf.2_Silent_p.S142S|GPR56_uc010vhs.1_Silent_p.S142S|GPR56_uc002emd.2_Silent_p.S142S|GPR56_uc002eme.2_Silent_p.S142S|GPR56_uc010vht.1_Silent_p.S147S|GPR56_uc002emg.3_Silent_p.S142S|GPR56_uc010vhu.1_5'UTR	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.	142					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CTGTCACCTCCTGGTGGAGCC	0.602000														49			8		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698454	96698454	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96698454G>A	uc001kka.4	+	0	40	c.15G>A	c.(13-15)gtG>gtA	p.V5V	CYP2C9_uc009xut.3_Silent_p.V5V|CYP2C9_uc001kjz.3_Silent_p.V5V	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	5					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	ATTCTCTTGTGGTCCTTGTGC	0.493000														239			94		0	0	1	0	0
PTBP2	58155	broad.mit.edu	37	1	97236339	97236339	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:97236339C>T	uc001drq.3	+	4	610	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	PTBP2_uc001drn.2_Missense_Mutation_p.R122C|PTBP2_uc001dro.2_Missense_Mutation_p.R122C|PTBP2_uc010otz.1_Missense_Mutation_p.R133C|PTBP2_uc001drp.2_Non-coding_Transcript|PTBP2_uc009wdw.2_Missense_Mutation_p.R70C|PTBP2_uc001drr.3_Missense_Mutation_p.R122C|PTBP2_uc001dru.3_Non-coding_Transcript|PTBP2_uc001drm.2_Missense_Mutation_p.R122C	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	Homo sapiens polypyrimidine tract binding protein 2 (PTBP2), mRNA.	122	RRM 1.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		ACCTCATCTTCGTAACCAACC	0.338000														115			20		0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29080214	29080214	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29080214G>A	uc011dll.2	+	0	547	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTTTTTCTGTGAAGTTCCAGC	0.463000														92			35		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22697996	22697996	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22697996G>A	uc021wml.1	+	40		c.4541G>A								Parts of antibodies, mostly variable regions.																		GGCCTGAATCGGTACCTGACC	0.567000											OREG0026357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			4		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101592065	101592065	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:101592065G>A	uc002bwr.3	+	23	3908	c.3589G>A	c.(3589-3591)Gcc>Acc	p.A1197T	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_5'Flank	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1197					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTCCTGACGGCCATCGAGCG	0.637000														68			7		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3729188	3729188	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:3729188G>A	uc002kmf.3	-	6	2065	c.1538C>T	c.(1537-1539)tCg>tTg	p.S513L	DLGAP1_uc010wyz.2_Missense_Mutation_p.S513L|DLGAP1_uc010dkn.3_Missense_Mutation_p.S211L|DLGAP1_uc002kme.2_Missense_Mutation_p.S211L|DLGAP1_uc010wyw.2_Missense_Mutation_p.S219L|DLGAP1_uc010wyx.2_Missense_Mutation_p.S225L|DLGAP1_uc010wyy.2_Missense_Mutation_p.S225L|DLGAP1_uc002kmg.3_Missense_Mutation_p.S211L|DLGAP1_uc002kmk.2_Missense_Mutation_p.S513L	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	513					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGGCGAGGACGACCTCAGGGA	0.682000														42			12		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268686	1268686	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1268686G>A	uc001lta.3	+	30	10635	c.10576G>A	c.(10576-10578)Ggg>Agg	p.G3526R		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3526	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCTTCTCCAGGGACGACCAC	0.687000														101			25		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375047	113375047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:113375047G>A	uc003eam.3	-	6	5893	c.5482C>T	c.(5482-5484)Ctc>Ttc	p.L1828F	KIAA2018_uc003eal.3_Missense_Mutation_p.L1772F	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1828					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGATCACTGAGGTGAGGGGCA	0.473000														167			47		0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181538	128181538	+	Missense_Mutation	SNP	G	A	A	rs140414363		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:128181538G>A	uc003ekk.1	-	2	2212	c.551C>T	c.(550-552)tCg>tTg	p.S184L	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.S184L	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	184					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CTCGGTGGACGACATCACCGA	0.622000														70			37		0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20235891	20235891	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:20235891C>T	uc021url.1	+	2		c.315C>T						Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.							Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						TGCAAGTCTTCGGACGCAAGA	0.627000														17			8		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1271213	1271213	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:1271213G>A	uc002qwq.3	+	13	1283	c.1154G>A	c.(1153-1155)aGg>aAg	p.R385K	SNTG2_uc010ewi.3_Missense_Mutation_p.R258K	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	385	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding	p.R385S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GAGGACCAGAGGCCCTATTGC	0.512000														20			11		0	0	1	0	0
STARD4	134429	broad.mit.edu	37	5	110835726	110835726	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:110835726G>A	uc003kph.1	-	5	560	c.476C>T	c.(475-477)cCa>cTa	p.P159L	STARD4_uc010jbw.1_Missense_Mutation_p.P61L|STARD4_uc010jbx.1_Missense_Mutation_p.P61L|STARD4_uc003kpi.1_Non-coding_Transcript	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.	159	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		GTCTTTAAGTGGAACACAAAA	0.413000														79			34		0	0	1	0	0
ANAPC16	119504	broad.mit.edu	37	10	73983730	73983730	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:73983730G>T	uc001jsw.3	+	2	550	c.58G>T	c.(58-60)Gga>Tga	p.G20*	ANAPC16_uc021psn.1_Non-coding_Transcript|ANAPC16_uc001jsv.3_Nonsense_Mutation_p.G20*|ANAPC16_uc021psp.1_Nonsense_Mutation_p.G20*|ANAPC16_uc021psq.1_Intron|ANAPC16_uc021psr.1_Intron|ANAPC16_uc021pss.1_Nonsense_Mutation_p.G20*	NM_001242546	NP_001229475	Q96DE5	APC16_HUMAN	Homo sapiens anaphase promoting complex subunit 16 (ANAPC16), transcript variant 1, mRNA.	20	Ser-rich.				cell division|mitosis|protein ubiquitination	anaphase-promoting complex|cytoplasm				large_intestine(1)|ovary(1)	2						TTCTGTCACTGGATCTGGTTT	0.493000														122			51		1.17673e-23	1.1837e-23	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2595295	2595295	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2595295C>T	uc009zdu.1	+	5	1096	c.783C>T	c.(781-783)atC>atT	p.I261I	CACNA1C_uc001qkc.2_Silent_p.I261I|CACNA1C_uc001qjz.2_Silent_p.I261I|CACNA1C_uc001qkd.2_Silent_p.I261I|CACNA1C_uc001qke.2_Silent_p.I261I|CACNA1C_uc001qkf.2_Silent_p.I261I|CACNA1C_uc009zdw.1_Silent_p.I261I|CACNA1C_uc001qkg.2_Silent_p.I261I|CACNA1C_uc001qkh.2_Silent_p.I261I|CACNA1C_uc001qkl.2_Silent_p.I261I|CACNA1C_uc001qkj.2_Silent_p.I261I|CACNA1C_uc001qkk.2_Silent_p.I261I|CACNA1C_uc001qkn.2_Silent_p.I261I|CACNA1C_uc001qkm.2_Silent_p.I261I|CACNA1C_uc001qko.2_Silent_p.I261I|CACNA1C_uc001qkp.2_Silent_p.I261I|CACNA1C_uc001qkq.2_Silent_p.I261I|CACNA1C_uc001qku.2_Silent_p.I261I|CACNA1C_uc001qkr.2_Silent_p.I261I|CACNA1C_uc001qks.2_Silent_p.I261I|CACNA1C_uc001qkt.2_Silent_p.I261I|CACNA1C_uc009zdv.1_Silent_p.I261I|CACNA1C_uc001qkb.2_Silent_p.I261I|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	261					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGAATTCCATCATCAAGGCCA	0.562000														24			4		0	0	1	0	0
TIAL1	7073	broad.mit.edu	37	10	121337200	121337200	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:121337200G>A	uc001lei.1	-	7	1169	c.605C>T	c.(604-606)cCa>cTa	p.P202L	TIAL1_uc001leh.1_Missense_Mutation_p.P180L|TIAL1_uc001lej.1_Missense_Mutation_p.P219L|TIAL1_uc001lek.1_Missense_Mutation_p.P79L|TIAL1_uc010qtb.1_Missense_Mutation_p.P79L	NM_003252	NP_003243	Q01085	TIAR_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein-like 1 (TIAL1), transcript variant 1, mRNA.	202					apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		ACAATTTTTTGGACTTGACTG	0.368000														144			59		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1221818	1221818	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1221818G>A	uc003jbw.4	+	11	1760	c.1704G>A	c.(1702-1704)gaG>gaA	p.E568E		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	568					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTCCCCAGGAGGAATTTCCCA	0.592000														49			13		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	70987031	70987031	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:70987031G>A	uc001jpf.4	+	1	265	c.132G>A	c.(130-132)cgG>cgA	p.R44R		NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	44					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGCGGTTCCGGGCTGAGATGG	0.597000														79			36		0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639219	97639219	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:97639219G>A	uc001vmx.1	-	3	1039	c.795C>T	c.(793-795)atC>atT	p.I265I	OXGR1_uc010afr.1_Silent_p.I265I|OXGR1_uc021rlr.1_Silent_p.I265I	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) receptor 1 (OXGR1), mRNA.	265						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			GGCGAGATTCGATCCGAATGA	0.433000														69			20		0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35084718	35084718	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:35084718C>T	uc001ziu.1	-	3	750	c.507G>A	c.(505-507)gaG>gaA	p.E169E	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	169					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AAGCGTAGCCCTCATAGATGG	0.532000														86			11		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64427844	64427844	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64427844C>T	uc021qkw.1	-	10	2811	c.2349G>A	c.(2347-2349)ctG>ctA	p.L783L	NRXN2_uc021qkx.1_Silent_p.L752L|NRXN2_uc001oas.3_Silent_p.L752L|NRXN2_uc001oaq.3_Silent_p.L450L	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	783	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CATCCAGCTCCAGGCGTAGGG	0.617000														72			9		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672268	186672268	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:186672268G>A	uc002upl.3	+	16	18502	c.18502G>A	c.(18502-18504)Gaa>Aaa	p.E6168K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGATGATGATGAAATTATTCA	0.323000														92			96		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74287400	74287400	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74287400G>A	uc002jrd.1	-	3	3090	c.2910C>T	c.(2908-2910)gcC>gcT	p.A970A	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	970							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTCGGTCCGAGGCTCGTGTTC	0.522000														42			23		0	0	1	0	0
SNCB	6620	broad.mit.edu	37	5	176056599	176056599	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176056599C>T	uc010jke.1	-	0	451	c.57G>A	c.(55-57)gcG>gcA	p.A19A	SNCB_uc021yij.1_Silent_p.A19A|SNCB_uc003mep.3_Silent_p.A19A|SNCB_uc003meq.3_Silent_p.A19A|SNCB_uc021yig.1_Silent_p.A19A|SNCB_uc021yih.1_Silent_p.A19A|SNCB_uc021yii.1_Silent_p.A19A|MIR4281_uc021yik.1_5'Flank|EIF4E1B_uc010jkf.1_5'Flank			Q16143	SYUB_HUMAN	Homo sapiens synuclein, beta (SNCB), transcript variant 1, mRNA.	19							calcium ion binding|phospholipase inhibitor activity	p.A19T(1)		breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTTTTCTCCGCGGCTGCCA	0.672000														29			11		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322479	55322479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55322479G>A	uc010rig.2	+	0	697	c.697G>A	c.(697-699)Gac>Aac	p.D233N		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTTTATGTGTGACTTGTACCC	0.458000										HNSCC(20;0.049)				40			10		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81929530	81929530	+	Silent	SNP	G	A	A	rs149315555	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:81929530G>A	uc002fgt.3	+	12	1369	c.1191G>A	c.(1189-1191)tcG>tcA	p.S397S	PLCG2_uc010chg.1_Silent_p.S397S	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	397	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTGTTACCTCGAGGTCAGTTG	0.542000														67			56		0	0	1	0	0
TRIM8	81603	broad.mit.edu	37	10	104404680	104404680	+	Silent	SNP	C	T	T	rs11550359		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:104404680C>T	uc001kvz.2	+	0	429	c.306C>T	c.(304-306)ccC>ccT	p.P102P		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.	102						PML body|cytoplasm	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCCCGCTGCCCGCGCAGAAGG	0.711000														10			4		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60074101	60074101	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:60074101G>A	uc001xen.1	-	3	2084	c.1875C>T	c.(1873-1875)gcC>gcT	p.A625A	RTN1_uc001xem.1_Silent_p.A205A|RTN1_uc001xek.2_Silent_p.A57A|RTN1_uc010apl.2_Silent_p.A42A	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	625	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGGCCAGGTAGGCCACGACGC	0.557000														53			5		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15296161	15296162	+	Nonsense_Mutation	DNP	GG	AA	AA	rs140040122	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15296161_15296162GG>AA	uc002nan.3	-	13	2278_2279	c.2202_2203CC>TT	c.(2200-2205)gcccga>gcTTga	p.R735*	NOTCH3_uc002nao.1_Nonsense_Mutation_p.R735*	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	735	EGF-like 19.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.A734A(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGGCGTCTCGGGCCAGGCTCT	0.678000														20			8		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085731	92085731	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92085731G>A	uc001pdj.4	+	0	470	c.453G>A	c.(451-453)atG>atA	p.M151I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	151	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTTAGATATGAATGATCTGA	0.403000										TCGA Ovarian(4;0.039)				46			25		0	0	1	0	0
LCE1A	353131	broad.mit.edu	37	1	152800190	152800190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152800190G>A	uc010pdw.2	+	0	242	c.242G>A	c.(241-243)aGa>aAa	p.R81K		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	Homo sapiens late cornified envelope 1A (LCE1A), mRNA.	81	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCGTCACAGACTCCAGAGC	0.697000														42			19		0	0	1	0	0
GRK4	2868	broad.mit.edu	37	4	3040238	3040238	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:3040238G>A	uc003ggn.1	+	14	2136	c.1681G>A	c.(1681-1683)Ggg>Agg	p.G561R	GRK4_uc003ggo.1_Intron|GRK4_uc003ggp.1_Missense_Mutation_p.G529R|GRK4_uc003ggq.1_Intron	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	561						cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTCAGAAGAGGGGTAAAAAG	0.373000														84			19		0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110882722	110882722	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110882722A>G	uc001dzl.1	+	0	778	c.695A>G	c.(694-696)aAg>aGg	p.K232R	RBM15_uc001dzm.1_Missense_Mutation_p.K232R|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Missense_Mutation_p.K232R	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	232	RRM 1.				interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGGGCGGCCAAGCATGCCAGA	0.597000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73			31		0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13896295	13896295	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:13896295G>A	uc003bye.1	-	2	609	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	102					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	p.S101C(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GCAGCCTCCCGGCTCCCTGCG	0.627000														53			11		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519925	69519925	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:69519925G>A	uc021xow.1	-	4	1301	c.1143C>T	c.(1141-1143)atC>atT	p.I381I		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	381					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TCGCCTCATAGATGCCATTGG	0.413000														224			62		0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52897398	52897398	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:52897398G>A	uc010ugf.2	-	5	2547	c.2413C>T	c.(2413-2415)Cat>Tat	p.H805Y	FAM214A_uc002acg.4_Missense_Mutation_p.H798Y|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Missense_Mutation_p.H710Y	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	798																	TCCAAGGAATGAAAATTATGT	0.333000														134			52		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186545280	186545280	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:186545280G>A	uc003iyg.3	-	12	1665	c.1633C>T	c.(1633-1635)Cgc>Tgc	p.R545C	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.R531C|SORBS2_uc003iyl.3_Missense_Mutation_p.R431C|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.R335C|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	431						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R431C(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CCGTTACTGCGAACCTCCGGG	0.592000														56			22		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378071	55378071	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55378071C>T	uc002qhl.4	+	8	1316	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	KIR3DL2_uc002qho.4_Missense_Mutation_p.P418L|KIR3DL2_uc010esh.3_Missense_Mutation_p.P401L			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	418					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TCTCAGAGGCCCAAGACACCC	0.522000														393			34		0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	136030732	136030732	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:136030732C>T	uc010nab.3	-	5	510	c.229G>A	c.(229-231)Ggg>Agg	p.G77R	RALGDS_uc011mcw.2_Intron|RALGDS_uc011mcx.2_Intron|RALGDS_uc004ccw.3_Intron|RALGDS_uc010nac.1_Intron|RALGDS_uc004ccy.1_Intron			Q12967	GNDS_HUMAN	Homo sapiens globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (GBGT1), mRNA.	0					Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CACTGAGACCCTCCCCTGTGA	0.637000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									18			5		0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21929377	21929377	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:21929377C>T	uc001bev.3	-	16	1731	c.1713G>A	c.(1711-1713)acG>acA	p.T571T	RAP1GAP_uc001bew.3_Silent_p.T550T|RAP1GAP_uc001bey.3_Silent_p.T512T|RAP1GAP_uc001bex.3_Silent_p.T486T	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	486					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		ACTTCTTCCTCGTGGGGCTCT	0.647000														47			4		0	0	1	0	0
ZNF174	7727	broad.mit.edu	37	16	3454458	3454458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:3454458C>T	uc002cvc.3	+	1	1250	c.435C>T	c.(433-435)ctC>ctT	p.L145L	ZNF174_uc002cva.2_Silent_p.L145L|ZNF174_uc002cvb.3_Silent_p.L145L	NM_003450	NP_003441	Q15697	ZN174_HUMAN	Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.	145					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						AAAAGGTGCTCTTGGAGAAAA	0.512000														107			58		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149502729	149502729	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149502729C>T	uc003lro.3	-	14	2528	c.2059G>A	c.(2059-2061)Gga>Aga	p.G687R	PDGFRB_uc010jhd.3_Missense_Mutation_p.G526R	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	687	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCAGGTCTCCGTAGCGGCAG	0.607000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									56			21		0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31159911	31159911	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31159911G>A	uc002ebd.3	-	4	417	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	PRSS36_uc010vff.2_5'UTR|PRSS36_uc010vfg.2_Missense_Mutation_p.R120C|PRSS36_uc010vfh.2_Missense_Mutation_p.R120C	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	120	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GCCACTGCGCGGGTGTGCGCG	0.751000														34			16		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56047361	56047361	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:56047361G>A	uc003pcs.3	-	1	288	c.56C>T	c.(55-57)tCt>tTt	p.S19F	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.S19F|COL21A1_uc003pcu.1_Missense_Mutation_p.S19F	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	19					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGCTAACACAGAATTCTGAAG	0.358000														16			7		0	0	1	0	0
MFAP3L	9848	broad.mit.edu	37	4	170912824	170912825	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:170912824_170912825GG>AA	uc003isp.4	-	2	1112_1113	c.934_935CC>TT	c.(934-936)cct>TTt	p.P312F	MFAP3L_uc003isn.4_Missense_Mutation_p.P209F|MFAP3L_uc021xuj.1_Missense_Mutation_p.P209F	NM_021647	NP_001009554	O75121	MFA3L_HUMAN	Homo sapiens microfibrillar-associated protein 3-like (MFAP3L), transcript variant 1, mRNA.	312						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		AATTTGCTGAGGTTGCTCGTGC	0.554000														48			5		0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628475	71628475	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:71628475C>T	uc004agy.3	-	0	565	c.534G>A	c.(532-534)caG>caA	p.Q178Q		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	178	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCAGGTAGCCCTGCTGGTCGA	0.632000														25			7		0	0	1	0	0
FAM73B	84895	broad.mit.edu	37	9	131804628	131804628	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131804628C>T	uc004bxa.3	+	2	328	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F	FAM73B_uc004bwy.3_Non-coding_Transcript|FAM73B_uc004bwz.3_Non-coding_Transcript|FAM73B_uc011mbn.1_Missense_Mutation_p.L48F	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	Homo sapiens family with sequence similarity 73, member B (FAM73B), mRNA.	48						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GCGGAAAGTCCTCTTTGCCAC	0.647000														35			11		0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83433134	83433134	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:83433134C>T	uc003kio.1	-	4	813	c.394G>A	c.(394-396)Gga>Aga	p.G132R	EDIL3_uc003kip.1_Missense_Mutation_p.G122R	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	132	EGF-like 3.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GTACATATTCCACCATTTTTG	0.358000														115			51		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140216007	140216007	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140216007C>T	uc003lhq.2	+	0	2039	c.2039C>T	c.(2038-2040)tCg>tTg	p.S680L	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_uc011dac.2_Missense_Mutation_p.S680L	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	689	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)			AAGGCGTCGTCGCGGGCATCG	0.627000														102			28		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208218536	208218536	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:208218536G>A	uc001hgz.3	-	18	4273	c.3515C>T	c.(3514-3516)cCt>cTt	p.P1172L		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1172	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCCAGAGGCAGGAGGGCAGAG	0.493000														88			30		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55445082	55445082	+	Missense_Mutation	SNP	C	T	T	rs142522707	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55445082C>T	uc002qih.4	-	7	2573	c.2497G>A	c.(2497-2499)Gcc>Acc	p.A833T	NLRP7_uc010esk.3_Missense_Mutation_p.A833T|NLRP7_uc002qig.4_Missense_Mutation_p.A805T|NLRP7_uc002qii.4_Missense_Mutation_p.A833T|NLRP7_uc010esl.3_Missense_Mutation_p.A861T	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	833							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTGCAACTGGCTTCTGTAAGA	0.468000														86			22		0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74860079	74860079	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:74860079G>A	uc004air.3	+	11	1360	c.1151G>A	c.(1150-1152)gGt>gAt	p.G384D	GDA_uc011lse.2_Missense_Mutation_p.G310D|GDA_uc004aiq.3_Missense_Mutation_p.G384D|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.G310D|GDA_uc004ais.3_Missense_Mutation_p.G306D	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	384					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGGCTGGATGGTGAGATTGGA	0.448000														133			34		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230456417	230456417	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:230456417G>A	uc002vpv.3	-	1	611	c.464C>T	c.(463-465)cCt>cTt	p.P155L		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	155					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AGCAGGAACAGGCTGAAGCTG	0.552000														69			5		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878874	24878874	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24878874C>T	uc001wpf.4	+	3	2192	c.1874C>T	c.(1873-1875)cCc>cTc	p.P625L		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	625					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCAAAAACTCCCCAGGCTCAG	0.502000														12			5		0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2933011	2933011	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:2933011G>A	uc011mhj.2	+	4	341	c.341_splice	c.e4-1	p.G114_splice		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	114						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTACTTTTAGGCAAATGGCAC	0.453000														11			5		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228099	3228099	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:3228099C>T	uc004crg.4	-	6	8302	c.8145G>A	c.(8143-8145)acG>acA	p.T2715T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2715	Ig-like C2-type 11.					extracellular region				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)				GGCCGTACTCCGTCTCCATCC	0.617000														22			28		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94882608	94882608	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:94882608G>A	uc002btj.3	+	3	792	c.727G>A	c.(727-729)Gat>Aat	p.D243N	MCTP2_uc010urg.1_Missense_Mutation_p.D243N|MCTP2_uc002bti.2_Missense_Mutation_p.D243N|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.D243N|MCTP2_uc002btg.4_Missense_Mutation_p.D243N|MCTP2_uc002bth.4_Missense_Mutation_p.D243N	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	243	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CCCAGTATGGGATGAGATAGT	0.358000														145			43		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099726	168099726	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:168099726C>T	uc002udx.3	+	8	1913	c.1824C>T	c.(1822-1824)atC>atT	p.I608I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.I433I|XIRP2_uc010fpq.3_Silent_p.I386I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	433					actin cytoskeleton organization	cell junction	actin binding	p.E607D(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCAAGAAATCATTGCTGGTG	0.423000														82			26		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40364092	40364092	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40364092G>A	uc002omp.4	-	30	14558	c.14550C>T	c.(14548-14550)gcC>gcT	p.A4850A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4850						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGCCTGTGGCATGACAGG	0.647000														51			12		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50266392	50266392	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50266392C>T	uc002ppm.3	-	0	124	c.113G>A	c.(112-114)aGg>aAg	p.R38K		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	38							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCTGGTCACCCTCCGGGGAGC	0.622000														101			46		0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887664	97887664	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:97887664G>A	uc011bgu.2	+	0	121	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CACCATCATGGGGAATCTTGG	0.408000														229			89		0	0	1	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691306	39691306	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39691306C>T	uc002okq.1	+	5	757	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA.	246	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TTATCCACTTCCTGCACAAGG	0.627000														271			115		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495309	71495309	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:71495309G>A	uc003kbw.4	+	4	6368	c.6127G>A	c.(6127-6129)Gag>Aag	p.E2043K	MAP1B_uc010iyw.1_Missense_Mutation_p.E2060K|MAP1B_uc010iyx.1_Missense_Mutation_p.E1917K|MAP1B_uc010iyy.1_Missense_Mutation_p.E1917K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	2043						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATACTGTTACGAGACTGCAGA	0.448000														131			37		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101748028	101748028	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:101748028C>T	uc001vox.1	-	27	3355	c.3166G>A	c.(3166-3168)Gat>Aat	p.D1056N		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1056						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCATTGCAATCTTCCTAAAGT	0.388000														60			21		0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8790865	8790865	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:8790865C>T	uc003srv.3	+	2	1193	c.282C>T	c.(280-282)tcC>tcT	p.S94S	NXPH1_uc011jxh.2_5'UTR	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	94	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGAGGAACTCCACAGACCTTC	0.478000														65			20		0	0	1	0	0
NXF2	56001	broad.mit.edu	37	X	101620169	101620169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:101620169G>A	uc022cav.1	-	19	2258	c.1277C>T	c.(1276-1278)cCc>cTc	p.P426L	NXF2_uc004eiz.4_Missense_Mutation_p.P338L|NXF2_uc004ejb.4_Missense_Mutation_p.P426L|NXF2_uc004eiy.4_Missense_Mutation_p.P426L	NM_001099686	NP_001093156	Q9GZY0	NXF2_HUMAN	Homo sapiens nuclear RNA export factor 2B (NXF2B), mRNA.	426	NTF2.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding			endometrium(2)|lung(2)	4						GGGGTCGAAGGGAATAGCCAA	0.572000														53			20		0	0	1	0	0
C10orf47	254427	broad.mit.edu	37	10	11911750	11911750	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:11911750G>A	uc001ikx.3	+	3	807	c.653G>A	c.(652-654)aGg>aAg	p.R218K	LOC219731_uc001iky.2_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA.	218	Pro-rich.									central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TCCCCGTTCAGGGAGGGCCGG	0.731000														6			3		0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1403202	1403202	+	Silent	SNP	G	A	A	rs138475489	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1403202G>A	uc003jck.3	-	12	1728	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	534					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CCACGACCACGAACTGCAACC	0.632000														17			9		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116931709	116931709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:116931709G>A	uc011lxl.2	+	2	1874	c.1874G>A	c.(1873-1875)gGg>gAg	p.G625E	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Missense_Mutation_p.G475E	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	625	Collagen-like 1.|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						CTGCTGATGGGGCCTCCGGGA	0.632000														68			11		0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12247800	12247800	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:12247800C>T	uc001mjz.3	+	13	2059	c.1771C>T	c.(1771-1773)Cct>Tct	p.P591S	MICAL2_uc010rch.1_Missense_Mutation_p.P591S|MICAL2_uc001mka.3_Missense_Mutation_p.P591S|MICAL2_uc010rci.2_Missense_Mutation_p.P591S|MICAL2_uc001mkb.3_Missense_Mutation_p.P591S|MICAL2_uc001mkc.3_Missense_Mutation_p.P591S|MICAL2_uc001mkd.3_Missense_Mutation_p.P420S|MICAL2_uc010rcj.2_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	591	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GTTTGGGATCCCTCCAGTGAC	0.512000														93			40		0	0	1	0	0
NUSAP1	51203	broad.mit.edu	37	15	41643234	41643234	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:41643234C>T	uc001zns.4	+	3	619	c.355C>T	c.(355-357)Cat>Tat	p.H119Y	NUSAP1_uc001znr.4_Missense_Mutation_p.H119Y|NUSAP1_uc001znt.4_Missense_Mutation_p.H104Y|NUSAP1_uc001znv.4_Missense_Mutation_p.H118Y|NUSAP1_uc010ucw.2_Missense_Mutation_p.H96Y|NUSAP1_uc010bce.3_Missense_Mutation_p.H119Y|NUSAP1_uc001znu.4_Missense_Mutation_p.H118Y|NUSAP1_uc001znw.4_5'UTR	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	Homo sapiens nucleolar and spindle associated protein 1 (NUSAP1), transcript variant 1, mRNA.	119					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		ATTCCAGAATCATGAAAAGCA	0.378000														23			11		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74452068	74452068	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74452068C>T	uc002sko.1	-	23	3195	c.3193G>A	c.(3193-3195)Gac>Aac	p.D1065N	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.D1049N|SLC4A5_uc010ffc.1_Missense_Mutation_p.D968N|SLC4A5_uc002skp.1_Missense_Mutation_p.D947N|SLC4A5_uc002sks.1_Silent_p.T956T	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	1065						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGGCCAGGTCGTGCTGGGAA	0.473000														81			28		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39068745	39068745	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39068745C>T	uc003xmt.4	+	11	1380	c.1135C>T	c.(1135-1137)Ctt>Ttt	p.L379F	ADAM32_uc011lch.2_Intron|ADAM32_uc003xmu.4_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	379	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGTCAAATGTCTTCAGAATAA	0.393000														15			11		0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750008	142750008	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142750008C>T	uc011ksv.2	+	0	571	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CTCTGACACTCGCCTGTTGGA	0.512000														164			59		0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53912393	53912393	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:53912393G>A	uc003dhd.3	-	2	497	c.396C>T	c.(394-396)tcC>tcT	p.S132S	ACTR8_uc003dhb.3_5'Flank|ACTR8_uc003dhc.3_Silent_p.S21S	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	132					DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CCTGTTCAGGGGACACAGGAA	0.363000														193			42		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940754	22940754	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:22940754C>T	uc021urt.1	-	3	2112	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTACCACATTCTTCACATTTG	0.383000														76			21		0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27375502	27375502	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:27375502C>T	uc009xku.1	-	4	847	c.675G>A	c.(673-675)agG>agA	p.R225R	ANKRD26_uc001ith.2_Silent_p.R225R	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	225						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GTTTAGGTATCCTTTCTTCTT	0.264000														83			27		0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31374318	31374319	+	Missense_Mutation	DNP	GA	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31374318_31374319GA>TT	uc002wyc.3	+	4	638_639	c.317_318GA>TT	c.(316-318)cga>cTT	p.R106L	DNMT3B_uc010ztx.1_Intron|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.3_Missense_Mutation_p.R106L|DNMT3B_uc002wye.3_Missense_Mutation_p.R106L|DNMT3B_uc010ztz.2_Intron|DNMT3B_uc010zua.2_Intron|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.R118L	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	106	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCCGAACTCGAAATAACAACA	0.629000														54			18		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50534962	50534962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:50534962C>T	uc001zxz.3	-	11	1826	c.1484G>A	c.(1483-1485)aGg>aAg	p.R495K	HDC_uc001zxy.3_Missense_Mutation_p.R238K|HDC_uc010uff.2_Missense_Mutation_p.R462K	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	495					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.R495R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TCTGGCACCCCTGATTTGGGA	0.572000														42			16		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32050005	32050005	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32050005G>A	uc003nzl.2	-	8	3746	c.3544C>T	c.(3544-3546)Cct>Tct	p.P1182S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1269	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGCCCTCAGGGACAGTCCAG	0.597000														43			12		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113447007	113447007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113447007G>A	uc001tuj.3	+	9	2151	c.2011G>A	c.(2011-2013)Gat>Aat	p.D671N	OAS2_uc001tui.1_Missense_Mutation_p.D671N	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	671	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	p.D671N(2)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTGCTTCAAGGATGGGACTGG	0.512000														208			69		0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18152586	18152586	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:18152586C>T	uc001bat.3	+	2	889	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	225						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCTGGACTTTCGTGAGAGGCA	0.597000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			15		0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104238436	104238436	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:104238436G>A	uc004bbm.3	-	1	1261	c.939C>T	c.(937-939)ttC>ttT	p.F313F	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.F313F	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	313						integral to membrane											GCAGTTCCAGGAAATAGTGCC	0.607000														78			48		0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124229290	124229290	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124229290C>T	uc001ufr.3	+	11	1721	c.1473C>T	c.(1471-1473)tcC>tcT	p.S491S		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	491					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TGTACAGCTCCAGCCACCCAC	0.527000														61			22		0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187447255	187447255	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:187447255G>A	uc003frp.3	-	4	1395	c.938C>T	c.(937-939)gCc>gTc	p.A313V	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.A313V|BCL6_uc010hza.2_Missense_Mutation_p.A211V|BCL6_uc003frq.2_Missense_Mutation_p.A313V	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	313					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GAAATGCAGGGCAATCTCATC	0.592000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									104			44		0	0	1	0	0
ANKRD6	22881	broad.mit.edu	37	6	90326361	90326361	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:90326361G>A	uc003pni.4	+	7	1040	c.699G>A	c.(697-699)acG>acA	p.T233T	ANKRD6_uc003pne.4_Silent_p.T233T|ANKRD6_uc003pnf.4_Silent_p.T233T|ANKRD6_uc011dzy.2_Silent_p.T233T|ANKRD6_uc010kcd.3_Silent_p.T200T|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN	Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.	233			T -> M (in dbSNP:rs2273238).				protein binding	p.T233M(1)		NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GAGCAGATACGACCATTGTTA	0.473000														36			23		0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183778095	183778095	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:183778095C>T	uc003fmk.3	+	8	1333	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	433						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ACCTGCTCTTCATGGCCTCCT	0.567000														175			66		0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86678279	86678279	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:86678279C>T	uc002sri.4	+	3	723	c.396C>T	c.(394-396)cgC>cgT	p.R132R	KDM3A_uc010ytj.2_Silent_p.R132R|KDM3A_uc010ytk.2_Silent_p.R80R	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	132					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CTTCTGTTCGCTTTCTGGGAG	0.358000														72			30		0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49585897	49585897	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:49585897G>A	uc003ozk.4	-	2	438	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L	RHAG_uc010jzl.3_Silent_p.L126L|RHAG_uc010jzm.3_Silent_p.L126L	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	126					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AAAGATATCAGAACTGTGGCT	0.403000														33			16		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141722084	141722084	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141722084G>T	uc003vwy.3	+	6	781	c.727G>T	c.(727-729)Ggg>Tgg	p.G243W		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	243	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCGAGCATTGGGCCCCTACT	0.522000														60			12		2.27111e-07	2.27657e-07	1	1	0
CD99	4267	broad.mit.edu	37	X	2632473	2632473	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:2632473C>T	uc004cqm.3	+	1	252	c.78C>T	c.(76-78)ttC>ttT	p.F26F	CD99_uc010nda.3_Silent_p.F26F|CD99_uc004cqn.3_Non-coding_Transcript	NM_002414	NP_002405	P14209	CD99_HUMAN	Homo sapiens CD99 molecule (CD99), transcript variant 1, mRNA.	26					cell adhesion	cytoplasm|integral to plasma membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						ATGGTGGTTTCGATTTATCCG	0.294000														227			54		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35709163	35709163	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:35709163G>A	uc003jjo.3	+	18	2890	c.2779G>A	c.(2779-2781)Gaa>Aaa	p.E927K	SPEF2_uc003jjq.4_Missense_Mutation_p.E922K|SPEF2_uc003jjp.1_Missense_Mutation_p.E413K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	927					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAGAGAAGGAAATTCATCA	0.428000														99			8		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564418	176564418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176564418C>T	uc001gkz.3	+	2	2842	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	PAPPA2_uc001gky.1_Missense_Mutation_p.R560C|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	560	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCCTTCAGCCGCTACAACAT	0.557000														63			14		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50731719	50731719	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:50731719C>T	uc002lfe.2	+	9	2323	c.1707C>T	c.(1705-1707)tcC>tcT	p.S569S	DCC_uc010xdr.1_Silent_p.S417S|DCC_uc010dpf.2_Silent_p.S224S	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	569	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGAGGTGTCCACAGGAAAAG	0.473000														144			44		0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3656551	3656551	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:3656551G>A	uc002lyj.2	-	5	562	c.473C>T	c.(472-474)tCc>tTc	p.S158F	PIP5K1C_uc010xhq.2_Missense_Mutation_p.S158F|PIP5K1C_uc010xhr.2_Missense_Mutation_p.S158F	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	158	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		ATTGCACAGGGAGTACTGGAA	0.622000														63			23		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127623022	127623022	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:127623022C>T	uc003kuu.3	-	53	7297	c.6858G>A	c.(6856-6858)agG>agA	p.R2286R		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2286	EGF-like 38; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTTGATCTTCCCTGAGGGCAT	0.453000														132			42		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32137577	32137577	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:32137577C>T	uc001rks.3	+	3	4102	c.3688C>T	c.(3688-3690)Caa>Taa	p.Q1230*		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1230										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			CACTGTTGTTCAATTTAAGAG	0.378000														54			26		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149500563	149500563	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149500563G>A	uc010lpk.3	+	54	7955	c.7955_splice	c.e54-1	p.G2652_splice		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2655	TIL 4.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATACTCCCAGGATGCCGCTGT	0.677000														38			12		0	0	1	0	0
SKAP2	8935	broad.mit.edu	37	7	26766566	26766566	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:26766566G>A	uc003syc.3	-	6	822	c.529C>T	c.(529-531)Cta>Tta	p.L177L	SKAP2_uc011jzi.2_Silent_p.L5L|SKAP2_uc011jzj.2_Silent_p.L162L	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	177	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TCCTTTCTTAGAGTGTTATTC	0.323000														59			5		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719089	140719089	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140719089G>A	uc003ljk.2	+	0	736	c.551G>A	c.(550-552)aGg>aAg	p.R184K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.R184K	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	184	Cadherin 2.				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)			GACGTGCGAAGGGGAGCTGAT	0.562000														92			33		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52605227	52605227	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:52605227G>A	uc002lfs.3	-	4	478	c.306C>T	c.(304-306)ctC>ctT	p.L102L	CCDC68_uc002lft.3_Silent_p.L102L	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	102								p.Q101Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TCATTTCTAAGAGCTGTAGGT	0.353000														47			5		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14801670	14801670	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:14801670G>A	uc003zlm.3	-	20	4490	c.3674C>T	c.(3673-3675)tCc>tTc	p.S1225F	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1225					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAGTTCCATGGAAAAGCTGTG	0.423000														25			11		0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79350286	79350286	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:79350286G>A	uc010ysd.2	+	4	513	c.446G>A	c.(445-447)tGg>tAg	p.W149*	REG1A_uc002snz.3_Nonsense_Mutation_p.W149*	NM_002909	NP_002900	P05451	REG1A_HUMAN	Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA.	149	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.K148K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TTCCAGAAATGGAAGGATGTG	0.418000														39			23		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685369	100685370	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100685369_100685370CC>TT	uc003uxp.1	+	2	10725_10726	c.10672_10673CC>TT	c.(10672-10674)cca>TTa	p.P3558L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3558	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTCCAGCAACTCTT	0.480000														398			45		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1996215	1996215	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:1996215C>T	uc021qsx.1	-	6	1033	c.802G>A	c.(802-804)Gag>Aag	p.E268K	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	268						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.D267Y(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ACTCCATTCTCATCAGGTGTC	0.502000														12			4		0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166944732	166944732	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:166944732C>T	uc003qvd.1	-	4	474	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	RPS6KA2_uc011ego.1_Missense_Mutation_p.A7T|RPS6KA2_uc010kkl.1_Missense_Mutation_p.A7T|RPS6KA2_uc003qvb.1_Missense_Mutation_p.A96T|RPS6KA2_uc003qvc.1_Missense_Mutation_p.A104T	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	96	Protein kinase 1.				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|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TTTAGGGTGGCTTTCTTAAGG	0.478000														93			37		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36181711	36181711	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:36181711C>T	uc003olv.4	+	7	2761	c.2537C>T	c.(2536-2538)tCc>tTc	p.S846F	BRPF3_uc010jwb.3_Intron|BRPF3_uc011dtj.2_Intron|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Intron	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	846					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCTGCACCTTCCTTGTCTGAG	0.493000														148			15		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324106	79324106	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:79324106C>T	uc010mpk.3	-	7	3208	c.3084G>A	c.(3082-3084)ggG>ggA	p.G1028G	PRUNE2_uc022bih.1_Silent_p.G850G	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1028					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGTCTAGGTTCCCAGGACCTG	0.448000														21			12		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3047596	3047596	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:3047596C>T	uc022aqr.1	-	33	5626	c.5236G>A	c.(5236-5238)Gag>Aag	p.E1746K	CSMD1_uc011kwj.2_Missense_Mutation_p.E1139K|CSMD1_uc003wqe.3_Missense_Mutation_p.E903K|CSMD1_uc010lrg.3_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1747	Sushi 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TATCTGGGCTCGGGGACAGAG	0.557000														6			4		0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102791757	102791757	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:102791757G>A	uc003hvy.4	+	4	1133	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	BANK1_uc003hvx.4_Missense_Mutation_p.E272K|BANK1_uc010ill.3_Missense_Mutation_p.E154K|BANK1_uc003hvz.4_Missense_Mutation_p.E257K	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	287	DBB.				B cell activation			p.E287A(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAAGGCAAAGGAATGCCTATT	0.398000														55			28		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175682	143175682	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143175682C>T	uc003wdc.1	+	0	717	c.717C>T	c.(715-717)ttC>ttT	p.F239F	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	239					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TCATCTCCTTCCTCATTCTTT	0.512000														84			43		0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156430	70156430	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:70156430C>T	uc003hej.3	+	4	1213	c.1211C>T	c.(1210-1212)gCt>gTt	p.A404V	UGT2B28_uc010ihr.3_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	404					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GATAACATTGCTCACATGAAG	0.453000														85			21		0	0	1	0	0
PKM2	5315	broad.mit.edu	37	15	72492920	72492920	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:72492920G>A	uc002aty.2	-	9	1668	c.1384C>T	c.(1384-1386)Cag>Tag	p.Q462*	GRAMD2_uc002atq.3_5'Flank|GRAMD2_uc010bis.2_5'Flank|PKM2_uc002atr.1_5'UTR|PKM2_uc010bit.1_Nonsense_Mutation_p.Q467*|PKM2_uc010uki.2_Nonsense_Mutation_p.Q536*|PKM2_uc002atx.2_Nonsense_Mutation_p.Q462*|PKM2_uc002atw.2_Nonsense_Mutation_p.Q462*|PKM2_uc010ukj.2_Nonsense_Mutation_p.Q447*|PKM2_uc010ukk.2_Nonsense_Mutation_p.Q388*|PKM2_uc002atv.2_Nonsense_Mutation_p.Q497*|PKM2_uc010biu.1_Nonsense_Mutation_p.Q483*	NM_002654	NP_002645	P14618	KPYM_HUMAN	Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 1, mRNA.	462	Interaction with POU5F1.				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1)	13					Pyruvic acid(DB00119)	AGGTGGGCCTGACGAGCTGTC	0.617000														109			9		0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72146332	72146332	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:72146332C>T	uc002fcb.3	+	26	3975	c.3620C>T	c.(3619-3621)cCa>cTa	p.P1207L	DHX38_uc010vmp.2_Missense_Mutation_p.P519L	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	1207					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ATCTACACTCCAGGCCGGAAA	0.627000														74			42		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94129588	94129588	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:94129588C>T	uc001pet.2	-	1	662	c.490G>A	c.(490-492)Gcc>Acc	p.A164T		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	164						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACCGCAATGGCTGTCAGTGTC	0.557000														50			20		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51287543	51287543	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:51287543G>A	uc003tps.3	-	1	325	c.140C>T	c.(139-141)tCg>tTg	p.S47L	COBL_uc003tpr.4_Missense_Mutation_p.S47L|COBL_uc011kcl.2_Missense_Mutation_p.S47L|COBL_uc010kzc.3_Missense_Mutation_p.S47L|COBL_uc003tpt.3_Missense_Mutation_p.S47L	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	47										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GTTCTGCTGCGACCCGAGGGC	0.627000														69			26		0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110226283	110226283	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:110226283G>A	uc001tpj.2	-	11	2225	c.2130C>T	c.(2128-2130)ctC>ctT	p.L710L	TRPV4_uc001tpg.2_Silent_p.L676L|TRPV4_uc021rdp.1_Silent_p.L650L|TRPV4_uc001tph.2_Silent_p.L663L|TRPV4_uc001tpi.2_Silent_p.L603L|TRPV4_uc001tpk.2_Silent_p.L710L	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	710					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GCATGTTGAGGAGCAGCACAA	0.602000														66			22		0	0	1	0	0
CEACAM4	1089	broad.mit.edu	37	19	42125730	42125730	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42125730G>A	uc002orh.1	-	6	819	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_001817	NP_001808	O75871	CEAM4_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.	236						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CTTTGTGGTCGATCTGGCAGT	0.527000														108			48		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155450997	155450997	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:155450997G>A	uc003qqb.3	+	5	1913	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	TIAM2_uc003qqe.3_Missense_Mutation_p.A214T	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	214					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGTGCCTGAAGCCAGGAGGGG	0.637000														26			24		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73042718	73042718	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73042718G>A	uc004ebn.2	+	0		c.30679G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GCTACTCAATGAAGTTTCTTC	0.353000														13			17		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440076	124440076	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124440076G>A	uc010san.2	+	0	112	c.112G>A	c.(112-114)Gca>Aca	p.A38T		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		AACGAAGAGAGCAGACCTCCA	0.527000														84			26		0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67766748	67766748	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67766748G>A	uc001omw.1	-	4	662	c.582C>T	c.(580-582)tcC>tcT	p.S194S		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	194					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											CCTTGTAGTGGGAGTACTCAT	0.607000														22			13		0	0	1	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328916	6328916	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:6328916G>A	uc003zjw.3	+	0	568	c.321G>A	c.(319-321)agG>agA	p.R107R	TPD52L3_uc003zjv.3_Silent_p.R107R|TPD52L3_uc003zjx.2_Silent_p.R107R	NM_033516	NP_277051	Q96J77	TPD55_HUMAN	Homo sapiens tumor protein D52-like 3 (TPD52L3), transcript variant 1, mRNA.	107							protein binding	p.C106F(1)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		TCATCTGCAGGAAGCTTGGAG	0.507000														52			30		0	0	1	0	0
IER5L	389792	broad.mit.edu	37	9	131939645	131939645	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131939645G>A	uc010myt.1	-	0	896	c.687C>T	c.(685-687)ccC>ccT	p.P229P		NM_203434	NP_982258	Q5T953	IER5L_HUMAN	Homo sapiens immediate early response 5-like (IER5L), mRNA.	229	Ala-rich.												Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		gggaggaggcgggggccgggg	0.771000														14			8		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45960781	45960781	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:45960781G>A	uc003bgi.1	+	14	1862	c.1715G>A	c.(1714-1716)gGa>gAa	p.G572E	FBLN1_uc003bgj.1_Intron	NM_006485	NP_006476	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant B, mRNA.	0	EGF-like 9; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCCAAGAAGGGAAGGCAGAAC	0.527000														76			6		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76397922	76397922	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:76397922C>T	uc021rkq.1	+	14	3197	c.2862C>T	c.(2860-2862)gcC>gcT	p.A954A	LMO7_uc010thv.2_Silent_p.A672A|LMO7_uc001vjt.1_Silent_p.A620A|LMO7_uc001vjv.3_Silent_p.A721A|LMO7_uc010thw.2_Silent_p.A571A|LMO7_uc001vjw.1_Silent_p.A627A	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1006						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTTCTAAAGCCACATTGTCTT	0.473000														71			8		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072540	17072540	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17072540C>T	uc002zlp.1	-	0	1161	c.901G>A	c.(901-903)Gag>Aag	p.E301K		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	301					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGGGTCTCCTCGTCGACCTCC	0.493000														168			81		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179516823	179516823	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179516823C>T	uc021vsy.1	-	158	32218	c.31993_splice	c.e158+1	p.V10665_splice	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11592	Glu-rich.|Pro-rich.						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)			TCATTATTACCTTCAGGGGGA	0.353000														87			34		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940198	68940198	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:68940198G>A	uc009xpn.1	-	6	1047	c.924C>T	c.(922-924)atC>atT	p.I308I	CTNNA3_uc001jmw.2_Silent_p.I308I|CTNNA3_uc001jmx.4_Silent_p.I308I|CTNNA3_uc009xpo.1_Silent_p.I168I|CTNNA3_uc001jna.2_Silent_p.I320I	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	308					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAGCCCCACTGATAATGGCTT	0.478000														60			25		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152583269	152583269	+	Silent	SNP	G	A	A	rs138173087		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:152583269G>A	uc021zhb.1	-	98	19093	c.18870C>T	c.(18868-18870)tcC>tcT	p.S6290S	SYNE1_uc003qos.4_Silent_p.S814S|SYNE1_uc003qot.4_Silent_p.S6219S|SYNE1_uc003qou.4_Silent_p.S6290S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6290					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTCTTCAGCGGATGATTTCT	0.393000										HNSCC(10;0.0054)				41			23		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30973981	30973981	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:30973981G>A	uc021vfn.1	-	9	1256	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	CAPN13_uc021vfm.1_Silent_p.F408F|CAPN13_uc002rnp.1_Silent_p.F408F	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	408					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAATCACTTGGAAATCGAGTG	0.473000														17			9		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55346568	55346568	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55346568G>A	uc002qhm.1	+	2	116	c.70_splice	c.e2+1	p.G24_splice	KIR3DL2_uc010yfj.2_Splice_Site_p.G17_splice|KIR3DL2_uc010yfk.1_Splice_Site|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Splice_Site_p.G24_splice|KIR3DL2_uc002qhn.1_5'Flank	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	119					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.E23D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGCCACAGGAGGGTAAGTCCT	0.522000														182			36		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169548310	169548310	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:169548310C>T	uc003fgb.3	+	2	1225	c.1225C>T	c.(1225-1227)Cat>Tat	p.H409Y		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	409										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AGAGAACAATCATCTGGAGTA	0.383000														15			4		0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78062033	78062033	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:78062033G>A	uc002ffh.4	+	1	226	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	CLEC3A_uc021tlr.1_5'Flank	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	49					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GACTCAAATTGAAAAGCTCTG	0.443000														54			33		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53208027	53208027	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53208027C>T	uc001saz.3	-	0	38	c.38G>A	c.(37-39)gGg>gAg	p.G13E		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	0						keratin filament	structural molecule activity	p.G13W(2)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CTTCCCGCACCCGTTGAGCAT	0.537000														49			22		0	0	1	0	0
CLEC7A	64581	broad.mit.edu	37	12	10275908	10275908	+	Missense_Mutation	SNP	G	A	A	rs140318683	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10275908G>A	uc001qxg.2	-	4	734	c.547C>T	c.(547-549)Ctt>Ttt	p.L183F	CLEC7A_uc001qxe.3_Non-coding_Transcript|CLEC7A_uc001qxf.2_Missense_Mutation_p.L137F|CLEC7A_uc001qxh.2_Intron|CLEC7A_uc001qxi.2_Intron|CLEC7A_uc001qxj.2_Missense_Mutation_p.L104F|CLEC7A_uc001qxk.1_Non-coding_Transcript|CLEC7A_uc009zhg.1_Non-coding_Transcript	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	Homo sapiens C-type lectin domain family 7, member A (CLEC7A), transcript variant 1, mRNA.	183	C-type lectin.				T cell activation|carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition	cytoplasm|integral to membrane	MHC protein binding|metal ion binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GGCCGAGAAAGGCCTATCCAA	0.388000														48			10		0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31497190	31497190	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31497190C>T	uc002ecf.4	+	3	463	c.444C>T	c.(442-444)ttC>ttT	p.F148F	SLC5A2_uc010car.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	148					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TCTCCCTTTTCCTGTACATCT	0.602000														54			13		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68992794	68992794	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:68992794G>A	uc003xxv.1	+	15	1786	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	PREX2_uc003xxu.1_Missense_Mutation_p.E587K|PREX2_uc011lez.1_Missense_Mutation_p.E522K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	587					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAAAGTTGTGGAAAATGTTAT	0.318000														44			4		0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94822081	94822081	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:94822081C>T	uc011lgk.2	+	25	2801	c.2730C>T	c.(2728-2730)ttC>ttT	p.F910F	TMEM67_uc010maw.2_Silent_p.F616F|TMEM67_uc003yga.4_Silent_p.F829F|TMEM67_uc011lgl.2_Silent_p.F309F	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	910					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GAATGGAATTCATGGAACCAA	0.299000														54			18		0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2062038	2062038	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2062038G>A	uc001qjx.1	-	6	1148	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	DCP1B_uc010sdy.1_Silent_p.F254F	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	356					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.F356F(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GAAGTTTCTCGAACAGGTTCT	0.532000														77			20		0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231314955	231314955	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:231314955C>T	uc002vqt.3	+	7	946	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	SP100_uc002vqs.3_Missense_Mutation_p.P269S|SP100_uc002vqu.1_Missense_Mutation_p.P269S|SP100_uc010zmb.2_Missense_Mutation_p.P269S|SP100_uc002vqq.2_Missense_Mutation_p.P269S|SP100_uc010zmc.2_Missense_Mutation_p.P244S|SP100_uc002vqv.2_Missense_Mutation_p.P234S	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	269					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGCCCGTTGCCCTGTGATGA	0.433000														81			27		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76912528	76912528	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:76912528G>A	uc001oyb.2	+	35	5160	c.4888G>A	c.(4888-4890)Gga>Aga	p.G1630R	MYO7A_uc010rsm.1_Missense_Mutation_p.G1581R|MYO7A_uc001oyc.2_Missense_Mutation_p.G1592R|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.G802R|MYO7A_uc001oye.2_5'Flank	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1630	SH3.				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						CTTTGCCAAGGGAGACCTCAT	0.597000														29			15		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631512	32631512	+	Missense_Mutation	SNP	G	A	A	rs56107531		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:32631512G>A	uc003zrg.1	-	0	4156	c.4066C>T	c.(4066-4068)Cgc>Tgc	p.R1356C	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.	1356			R -> C (in dbSNP:rs56107531).		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)		GATTTTCTGCGAACCTCATGC	0.398000														213			103		0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46915457	46915458	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46915457_46915458CC>TT	uc002pep.3	-	0	1462_1463	c.610_611GG>AA	c.(610-612)ggg>AAg	p.G204K		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	204						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTCAGCTTCCCCCAGGACACC	0.693000														20			14		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114296614	114296614	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:114296614C>T	uc004bff.2	+	4	926	c.702C>T	c.(700-702)gtC>gtT	p.V234V	ZNF483_uc011lwq.2_Silent_p.V234V|ZNF483_uc004bfg.2_Silent_p.V234V	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	234	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TGGAAGAAGTCTCAAAAAGCT	0.393000														92			17		0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142724037	142724037	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142724037G>A	uc003wcc.1	-	0	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GGTGGCTGAGGAAGAAATACA	0.443000														105			36		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111164437	111164437	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:111164437C>T	uc001vqx.3	+	47	5327	c.5038C>T	c.(5038-5040)Ccc>Tcc	p.P1680S		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1680	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GACCACCATTCCCGAGCAGAG	0.612000														87			17		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8235340	8235340	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:8235340G>A	uc003wsh.4	-	1	579	c.579C>T	c.(577-579)ccC>ccT	p.P193P		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	193							ATP binding|non-membrane spanning protein tyrosine kinase activity										AAGGAAATGAGGGTTTTTCTT	0.617000														90			30		0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39087996	39087996	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:39087996C>T	uc002oix.1	-	23	1915	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	MAP4K1_uc002oiy.1_Missense_Mutation_p.D603N|MAP4K1_uc010xug.2_3'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	603	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTTTGGTGTCCTGGATCTTG	0.592000														311			30		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151067847	151067847	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151067847G>A	uc003eyp.3	+	15	2275	c.2146_splice	c.e15-1	p.D716_splice	MED12L_uc011bnz.2_Splice_Site_p.D576_splice|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	716					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTTTTTCAGGATGAATCTTC	0.458000														328			110		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423271	56423271	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56423271G>A	uc010ygg.2	-	4	1937	c.1912C>T	c.(1912-1914)Ctt>Ttt	p.L638F		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	638							ATP binding	p.L638P(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAGTGAAAAAGTCGTAGAATG	0.418000														81			32		0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57523364	57523364	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:57523364C>T	uc002aec.3	+	8	878	c.594C>T	c.(592-594)tcC>tcT	p.S198S	TCF12_uc010ugm.1_Silent_p.S250S|TCF12_uc010ugn.1_Silent_p.S194S|TCF12_uc002aea.3_Silent_p.S198S|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Silent_p.S198S|TCF12_uc002aed.3_Silent_p.S198S|TCF12_uc010ugo.2_Missense_Mutation_p.P9L|TCF12_uc002aee.3_Silent_p.S28S|TCF12_uc010bft.3_Silent_p.S28S	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	198					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATGCACCATCCCCAAATTCAG	0.343000			T	TEC	extraskeletal myxoid chondrosarcoma									125			46		0	0	1	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29773104	29773104	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:29773104G>A	uc003tai.3	+	9		c.774G>A								Homo sapiens dpy-19-like 2 pseudogene 3 (C. elegans) (DPY19L2P3), transcript variant 1, non-coding RNA.																		ACATATAGTCGAAAATCTGCC	0.269000														82			31		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10089637	10089637	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10089637C>T	uc002mmq.1	-	39	2980	c.2894G>A	c.(2893-2895)gGa>gAa	p.G965E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	965	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)			CCCAAGGGGTCCTGGTGGTCC	0.637000														15			5		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050262	42050262	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:42050262G>A	uc001cgz.4	-	3	1420	c.207C>T	c.(205-207)ggC>ggT	p.G69G	HIVEP3_uc001cha.4_Silent_p.G69G|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	69					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.G69G(2)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCTCCTGAGAGCCTTCCCTAA	0.637000														162			70		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66937411	66937411	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:66937411C>T	uc004dwu.2	+	4	3380	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	AR_uc022byk.1_Intron|AR_uc004dwv.2_Silent_p.F223F	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	754	Interaction with MYST2.|Ligand-binding.		T -> A (in prostate cancer).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GGCGATCCTTCACCAATGTCA	0.537000									Androgen Insensitivity Syndrome					15			23		0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92844872	92844872	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92844872C>T	uc011khy.2	-	3	649	c.626G>A	c.(625-627)gGg>gAg	p.G209E	HEPACAM2_uc003uml.3_Missense_Mutation_p.G174E|HEPACAM2_uc010lff.3_Missense_Mutation_p.G174E|HEPACAM2_uc003umm.3_Missense_Mutation_p.G186E	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	186	Ig-like C2-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GACAGGTCTCCCATTTTTTAG	0.507000														81			22		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28610179	28610179	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:28610179C>T	uc001urw.3	-	11	1392	c.1310_splice	c.e11-1	p.R437_splice	FLT3_uc010aao.3_Splice_Site|FLT3_uc010tdn.2_Splice_Site_p.R437_splice	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	437					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGAGGTTTCCCTATAGAAA	0.473000			"""Mis, O"""		"""AML, ALL"""									97			46		0	0	1	0	0
DCAF7	10238	broad.mit.edu	37	17	61660954	61660954	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61660954C>T	uc002jbc.3	+	5	836	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	DCAF7_uc002jbb.3_Non-coding_Transcript|DCAF7_uc010wpn.2_Intron	NM_005828	NP_005819	P61962	DCAF7_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 7 (DCAF7), mRNA.	207					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						GTTTGACCTCCGCCATCTAGA	0.562000														36			19		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18413795	18413795	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:18413795G>A	uc003wza.3	-	14	2955	c.2852C>T	c.(2851-2853)tCa>tTa	p.S951L	PSD3_uc003wyx.4_Missense_Mutation_p.S280L|PSD3_uc003wyy.3_Missense_Mutation_p.S417L|PSD3_uc003wyz.3_Missense_Mutation_p.S252L	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	952					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GGGGGGATATGAGCGGTGCTC	0.488000														153			46		0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183197559	183197559	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:183197559G>A	uc001gqa.2	+	10	1833	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	LAMC2_uc001gpz.4_Missense_Mutation_p.E507K|LAMC2_uc010poa.2_Missense_Mutation_p.E207K	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	507	Laminin EGF-like 6.				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						CCCCTTTGGTGAACATGGCCC	0.557000											OREG0014041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			31		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661269	77661269	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:77661269G>A	uc011cbx.2	+	4	2896	c.1943G>A	c.(1942-1944)gGc>gAc	p.G648D	SHROOM3_uc011cbz.1_Missense_Mutation_p.G472D|SHROOM3_uc003hkf.1_Missense_Mutation_p.G523D|SHROOM3_uc003hkg.3_Missense_Mutation_p.G426D	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	648					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAAGGCCTAGGCCAGAGCCTG	0.557000														108			48		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149506170	149506170	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149506170G>A	uc003lro.3	-	10	2056	c.1587C>T	c.(1585-1587)ccC>ccT	p.P529P	PDGFRB_uc010jhd.3_Silent_p.P368P	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	529					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCACCTTAAAGGGCAAGGCTG	0.562000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									38			5		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162762229	162762229	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:162762229C>T	uc002ubx.4	+	14	2013	c.1829C>T	c.(1828-1830)gCc>gTc	p.A610V	SLC4A10_uc010zcs.2_Missense_Mutation_p.A591V|SLC4A10_uc002uby.4_Missense_Mutation_p.A580V	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	610					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATACTTGTGGCCACAGATGCT	0.433000														87			37		0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122641360	122641360	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:122641360G>A	uc003yph.2	-	1	759	c.221C>T	c.(220-222)tCc>tTc	p.S74F		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	74						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GGTTTCTAGGGATTTTTTCAT	0.398000														246			79		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108622612	108622612	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:108622612G>A	uc002tdv.3	+	6	1125	c.849G>A	c.(847-849)gtG>gtA	p.V283V	SLC5A7_uc010ywm.2_Silent_p.V36V|SLC5A7_uc010fjj.3_Silent_p.V283V|SLC5A7_uc010ywn.2_Silent_p.V170V	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	283					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGTGCCTGGTGATGGCCATCC	0.527000														76			33		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579281	179579281	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179579281C>T	uc021vsy.1	-	87	22713	c.22488G>A	c.(22486-22488)aaG>aaA	p.K7496K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K4157K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8423	Ig-like 57.						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)			CACTGAGCTTCTTCACAAATC	0.438000														29			11		0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20216109	20216109	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:20216109G>A	uc002nor.2	+	2	349	c.210G>A	c.(208-210)atG>atA	p.M70I	ZNF90_uc021url.1_Non-coding_Transcript	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	70	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						GACATGAGATGATTGCCAAAT	0.408000														94			29		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90537175	90537175	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90537175G>A	uc010mqi.3	+	3	2382	c.2353G>A	c.(2353-2355)Ggc>Agc	p.G785S	FAM75C1_uc004apq.4_Missense_Mutation_p.G768S|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CAGCCTCAAAGGCAGCACCCA	0.577000														96			14		0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44261954	44261954	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:44261954G>A	uc010xcy.1	-	6	1319	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S	ST8SIA5_uc002lci.1_Missense_Mutation_p.P62S|ST8SIA5_uc002lcj.1_Missense_Mutation_p.P215S|ST8SIA5_uc010xcz.1_Missense_Mutation_p.P184S	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	215					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						ATGATGCTGGGGTTCACAGTG	0.542000														29			11		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126398344	126398344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126398344G>A	uc003ifj.4	+	12	12328	c.12328G>A	c.(12328-12330)Gga>Aga	p.G4110R	FAT4_uc011cgp.2_Missense_Mutation_p.G2373R|FAT4_uc003ifi.1_Missense_Mutation_p.G1588R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4110	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTTACAGTTGGAGGTATCAG	0.353000														121			57		0	0	1	0	0
FGL1	2267	broad.mit.edu	37	8	17726125	17726125	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:17726125C>T	uc003wye.3	-	8	1527	c.861G>A	c.(859-861)tgG>tgA	p.W287*	FGL1_uc003wxx.3_Nonsense_Mutation_p.W237*|FGL1_uc003wxy.3_Nonsense_Mutation_p.W237*|FGL1_uc003wya.3_Nonsense_Mutation_p.W237*|FGL1_uc003wyb.3_Nonsense_Mutation_p.W237*	NM_201553	NP_963847	Q08830	FGL1_HUMAN	Homo sapiens fibrinogen-like 1 (FGL1), transcript variant 4, mRNA.	237	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		GATCTCTGTCCCACGTGCTGA	0.463000														131			58		0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200534713	200534713	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:200534713G>A	uc010ppk.1	-	23	4185	c.3746C>T	c.(3745-3747)tCg>tTg	p.S1249L	KIF14_uc010ppj.1_Missense_Mutation_p.S758L	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	1249	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						AAAATCTAACGAAGAACCAAT	0.323000														58			30		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52200089	52200089	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52200089G>A	uc001ryw.3	+	26	4997	c.4819G>A	c.(4819-4821)Gag>Aag	p.E1607K	SCN8A_uc010snl.2_Missense_Mutation_p.E1566K	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1607					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGATATAATTGAGAAATACTT	0.433000														160			62		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51921502	51921502	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:51921502C>T	uc003pah.1	-	17	1963	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K	PKHD1_uc003pai.3_Missense_Mutation_p.E563K	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	563					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCACCTCGTTCAAATCCAAGC	0.403000														97			34		0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48239742	48239742	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:48239742G>A	uc002phj.4	+	4	1282	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	EHD2_uc010xyu.2_Silent_p.L208L	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	344					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		AGATTCAGCTGGAACATCACA	0.527000														53			36		0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76715603	76715603	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:76715603G>A	uc003kfa.3	+	18	2186	c.2141G>A	c.(2140-2142)cGa>cAa	p.R714Q	PDE8B_uc003kfd.3_Missense_Mutation_p.R667Q|PDE8B_uc003kfe.3_Missense_Mutation_p.R617Q|PDE8B_uc003kfb.3_Missense_Mutation_p.R694Q|PDE8B_uc003kfc.3_Missense_Mutation_p.R659Q	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	714	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AACCATTATCGAACGCTGCGC	0.413000														66			28		0	0	1	0	0
MIR31HG	554202	broad.mit.edu	37	9	21455491	21455491	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21455491C>T	uc003zpe.2	-	3		c.924G>A								Homo sapiens MIR31 host gene (non-protein coding) (MIR31HG), non-coding RNA.																		CAATGGCCCTCCTCTTCCCTC	0.502000														3			4		0	0	1	0	0
SPIB	6689	broad.mit.edu	37	19	50926223	50926223	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50926223G>A	uc002psd.3	+	3	293	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	SPIB_uc021uyc.1_Silent_p.S70S|SPIB_uc002pse.3_Missense_Mutation_p.E90K|SPIB_uc010ycc.2_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.	90					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		AGGGAACCTCGAACTGGCCCC	0.642000														116			35		0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30094997	30094997	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:30094997C>T	uc002dwe.3	+	6	634	c.499C>T	c.(499-501)Ctc>Ttc	p.L167F	BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.3_Missense_Mutation_p.L167F	NM_002720	NP_002711	P60510	PP4C_HUMAN	Homo sapiens protein phosphatase 4, catalytic subunit (PPP4C), mRNA.	167					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	NF-kappaB-inducing kinase activity|metal ion binding|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GCACGGGGGCCTCTCCCCCTC	0.632000														53			24		0	0	1	0	0
PRKAB2	5565	broad.mit.edu	37	1	146638497	146638497	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:146638497G>A	uc001epe.3	-	3	490	c.345C>T	c.(343-345)atC>atT	p.I115I	PRKAB2_uc010ozm.2_Silent_p.I33I|PRKAB2_uc010ozn.2_Silent_p.I33I|PRKAB2_uc009wjf.1_Silent_p.I115I	NM_005399	NP_005390	O43741	AAKB2_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 2 non-catalytic subunit (PRKAB2), mRNA.	115					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	GGAGGTCCAGGATGGCAACAA	0.438000														43			9		0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169533142	169533142	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:169533142C>T	uc003mai.4	+	0	226	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	FOXI1_uc003maj.4_Missense_Mutation_p.P61S	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	61	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA 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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACCCCCAACCCCTACCTCTG	0.677000									Pendred syndrome					22			7		0	0	1	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246165	145246165	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:145246165C>T	uc003lns.1	-	1	463	c.463G>A	c.(463-465)Gag>Aag	p.E155K		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	155										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						ATCAGAGACTCTTCCTCAGCC	0.443000														122			52		0	0	1	0	0
ZNF558	148156	broad.mit.edu	37	19	8922431	8922431	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8922431G>A	uc002mkn.1	-	5	965	c.735C>T	c.(733-735)ttC>ttT	p.F245F	ZNF558_uc010xkh.1_Silent_p.F174F|ZNF558_uc010dwg.1_Silent_p.F245F	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						AACTGGTGCGGAAAACGTGAA	0.443000														52			29		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275534	152275534	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152275534C>T	uc001ezu.1	-	2	11864	c.11828G>A	c.(11827-11829)gGa>gAa	p.G3943E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3943	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGTATTCCTGAGTGATA	0.433000									Ichthyosis					88			46		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364297	5364297	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:5364297G>A	uc001map.1	-	0	458	c.458C>T	c.(457-459)tCc>tTc	p.S153F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.S153F	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAACAACGGATACAAATCC	0.443000														77			24		0	0	1	0	0
KCNK15	60598	broad.mit.edu	37	20	43379197	43379197	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43379197C>T	uc002xmr.3	+	1	775	c.711C>T	c.(709-711)gcC>gcT	p.A237A		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	Homo sapiens potassium channel, subfamily K, member 15 (KCNK15), mRNA.	237						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				TCATTGGCGCCTTCCTCAACC	0.706000														83			15		0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93528871	93528871	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:93528871C>T	uc002bsp.3	+	25	3956	c.3381C>T	c.(3379-3381)ctC>ctT	p.L1127L	CHD2_uc002bso.1_Silent_p.L1127L	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1127					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGAAGGACCTCGTGGAGGGAT	0.527000														137			82		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	70987106	70987106	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:70987106G>A	uc001jpf.4	+	1	340	c.207G>A	c.(205-207)agG>agA	p.R69R		NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	69					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCTTCGTCAGGGCCATTCCCG	0.582000														45			12		0	0	1	0	0
ZNF605	100289635	broad.mit.edu	37	12	133502373	133502373	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:133502373G>A	uc001uli.3	-	4	1831	c.1605C>T	c.(1603-1605)ccC>ccT	p.P535P	ZNF605_uc001ulh.3_Silent_p.P504P|ZNF605_uc001ulj.3_Silent_p.P504P	NM_001164715	NP_001158187	Q86T29	ZN605_HUMAN	Homo sapiens zinc finger protein 605 (ZNF605), transcript variant 2, mRNA.	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		TACATTCAAAGGGCTTTTCTC	0.428000														25			20		0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27788253	27788253	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:27788253C>T	uc003szl.3	+	1	292	c.110C>T	c.(109-111)aCc>aTc	p.T37I	TAX1BP1_uc011jzo.2_Missense_Mutation_p.T37I|TAX1BP1_uc003szk.3_Missense_Mutation_p.T37I|TAX1BP1_uc011jzp.2_5'UTR	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	37					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TGTCATTACACCTTAACTCCA	0.368000														48			11		0	0	1	0	0
ZNF584	201514	broad.mit.edu	37	19	58928497	58928497	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58928497C>T	uc002qsp.3	+	3	1064	c.612C>T	c.(610-612)ccC>ccT	p.P204P	ZNF584_uc010yia.2_Non-coding_Transcript|ZNF584_uc010yib.2_3'UTR	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	Homo sapiens zinc finger protein 584 (ZNF584), mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		ATATTAACCCCCGAAAAATTC	0.478000														42			12		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169589453	169589453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169589453C>T	uc011cjx.2	+	2	1232	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	PALLD_uc003iru.3_Missense_Mutation_p.R341C|PALLD_uc003irv.3_5'UTR	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	341	Ig-like C2-type 1.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CGACACAGGTCGCTACACCTG	0.522000									Pancreatic Cancer, Familial Clustering of					92			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062045	9062045	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9062045G>A	uc002mkp.3	-	2	25605	c.25401C>T	c.(25399-25401)ttC>ttT	p.F8467F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8469	Ser-rich.|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						GTGATATGGTGAACTGATCAG	0.493000														185			48		0	0	1	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41621803	41621803	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:41621803C>T	uc003azo.3	+	11	1416	c.1362C>T	c.(1360-1362)ctC>ctT	p.L454L	L3MBTL2_uc010gyi.1_Silent_p.L363L|L3MBTL2_uc003azn.3_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA.	454					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCCAGGTTCTCCTGGATGGAT	0.597000														44			17		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924799	188924799	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:188924799C>T	uc003izh.1	+	3	1246	c.838C>T	c.(838-840)Caa>Taa	p.Q280*	ZFP42_uc003izi.1_Nonsense_Mutation_p.Q280*|ZFP42_uc021xvm.1_Nonsense_Mutation_p.Q280*	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	280					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GTGTCCCTTTCAAGGCTGCAA	0.483000														34			24		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007673	6007673	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6007673C>T	uc001mcd.2	-	0	543	c.488G>A	c.(487-489)gGa>gAa	p.G163E		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	163					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)		CACCACCATTCCGATGCACCC	0.512000														85			6		0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33783919	33783919	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:33783919G>A	uc002rox.3	+	17	2513	c.1886G>A	c.(1885-1887)gGg>gAg	p.G629E	RASGRP3_uc010ync.2_Missense_Mutation_p.G629E|RASGRP3_uc002roy.3_Missense_Mutation_p.G628E	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	629					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GGGGACTCGGGGTCCCACACC	0.557000														73			20		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071103	240071103	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240071103G>A	uc021plc.1	+	0	352	c.352G>A	c.(352-354)Ggg>Agg	p.G118R	CHRM3_uc001hyp.3_Missense_Mutation_p.G118R	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	118					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TCTGATTATCGGGGTCATTTC	0.478000														51			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579835	179579835	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179579835G>A	uc021vsy.1	-	86	22571	c.22346C>T	c.(22345-22347)tCt>tTt	p.S7449F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4110F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8376	Ig-like 56.						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)			GAAGTTCTCAGACATTATCTT	0.453000														239			88		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247836280	247836280	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247836280C>T	uc001idi.1	-	0	64	c.64G>A	c.(64-66)Gga>Aga	p.G22R		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAGATAATTCCCTGGAGTTCA	0.423000														72			37		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	89495564	89495564	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:89495564G>A	uc021vkt.1	-	30		c.3375_splice	c.e30+1		abParts_uc021vku.1_Intron					Parts of antibodies, mostly variable regions.																		TAGCACTGTGGGAGGATCTTG	0.527000														56			8		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269982	150269982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150269982G>A	uc003whl.3	+	2	906	c.824G>A	c.(823-825)aGa>aAa	p.R275K	GIMAP4_uc011kuu.2_Missense_Mutation_p.R136K|GIMAP4_uc011kuv.2_Missense_Mutation_p.R289K	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	275							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGAAAAGAGAAAGAAGCAA	0.463000														49			20		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14561721	14561721	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:14561721G>A	uc021wtn.1	-	9	1217	c.1217C>T	c.(1216-1218)tCg>tTg	p.S406L		NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	309					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CTCAAGCAGCGAGCAGTGTTC	0.647000														34			6		0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197889254	197889254	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197889254C>T	uc001guk.1	+	1	764	c.327C>T	c.(325-327)ctC>ctT	p.L109L	LHX9_uc001gui.1_Silent_p.L100L	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	109	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						AGTCCGAGCTCACCTGCTTTG	0.557000														328			21		0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5662644	5662644	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:5662644G>A	uc003sox.2	-	16	2878	c.2619C>T	c.(2617-2619)ttC>ttT	p.F873F	RNF216_uc010ksz.2_Silent_p.F438F|RNF216_uc010kta.2_Silent_p.F438F|RNF216_uc003soy.2_Silent_p.F816F|RNF216_uc011jwj.2_Silent_p.F438F	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	816					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GGAAGTTGTTGAACACAGGCC	0.652000														119			33		0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228210584	228210584	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228210584C>T	uc001hrp.2	+	1	395	c.288C>T	c.(286-288)gcC>gcT	p.A96A	WNT3A_uc001hrq.2_Silent_p.A96A	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	96					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				ACAGCCTGGCCATCTTCGGGC	0.652000														40			28		0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70118404	70118404	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70118404C>T	uc001opo.3	+	1	341	c.126C>T	c.(124-126)tcC>tcT	p.S42S	PPFIA1_uc001opn.2_Silent_p.S42S|PPFIA1_uc001opp.3_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	42					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGATGGTCTCCATGCTAGAAG	0.532000														104			20		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151835361	151835361	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:151835361C>T	uc010ipj.3	-	8	1391	c.1147G>A	c.(1147-1149)Ggc>Agc	p.G383S	LRBA_uc003ilu.4_Missense_Mutation_p.G383S|LRBA_uc010ipk.1_Missense_Mutation_p.G302S	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	383						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TATCCCAGGCCCAACTGATAA	0.393000														156			36		0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44800029	44800029	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44800029C>T	uc003tlr.3	+	8	1200	c.1077C>T	c.(1075-1077)acC>acT	p.T359T	ZMIZ2_uc003tlq.3_Silent_p.T301T|ZMIZ2_uc003tls.3_Silent_p.T333T|ZMIZ2_uc003tlt.3_5'UTR|ZMIZ2_uc010kyj.3_5'UTR	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	359	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TACAGCCTACCCGTTCCATCC	0.587000														73			7		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55087397	55087397	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55087397G>A	uc010ern.3	+	6	1545	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	LILRA1_uc002qgg.4_Missense_Mutation_p.G359E|LILRA1_uc002qgf.3_Missense_Mutation_p.G359E|LILRA1_uc010yfe.1_Missense_Mutation_p.G359E|LILRA1_uc010yff.1_Missense_Mutation_p.G347E|LILRA1_uc010ero.3_Missense_Mutation_p.G347E|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	361	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACCAAGGAGGGGGCAGGCCAT	0.617000														62			32		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46727878	46727878	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46727878G>A	uc003cqa.2	-	5	779	c.586C>T	c.(586-588)Ctg>Ttg	p.L196L	ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.L196L	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	196					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AAGGACTGCAGGTTCCCAAAG	0.617000														55			20		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70461449	70461449	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:70461449C>T	uc002lkw.3	-	5	826	c.542G>A	c.(541-543)gGa>gAa	p.G181E	NETO1_uc002lky.2_Missense_Mutation_p.G181E	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	181	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.G181R(2)|p.G181*(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTCCACAATTCCTTCGGAACC	0.428000														65			34		0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48055274	48055274	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:48055274C>T	uc010bek.3	+	8	1080	c.720C>T	c.(718-720)atC>atT	p.I240I	SEMA6D_uc001zvw.3_Silent_p.I240I|SEMA6D_uc001zvx.1_Silent_p.I240I|SEMA6D_uc001zvy.3_Silent_p.I240I|SEMA6D_uc001zvz.3_Silent_p.I240I|SEMA6D_uc001zwa.3_Silent_p.I240I|SEMA6D_uc001zwb.3_Silent_p.I240I|SEMA6D_uc001zwc.3_Silent_p.I240I	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	240	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTCGAGAAATCGCTGTCGAAC	0.358000														34			4		0	0	1	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74714335	74714335	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:74714335G>A	uc001jtf.1	-	0	176	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	PLA2G12B_uc009xqt.1_5'UTR|PLA2G12B_uc010qjz.1_Missense_Mutation_p.R37W	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	Homo sapiens phospholipase A2, group XIIB (PLA2G12B), mRNA.	37					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					CGGAGGTGCCGAAGGCCCCAG	0.572000														157			64		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481842	140481842	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140481842G>A	uc003lio.3	+	0	1609	c.1609G>A	c.(1609-1611)Ggc>Agc	p.G537S	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	537	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACAGACCGTGGCTCCCCGGC	0.677000														93			36		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32466746	32466746	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:32466746C>T	uc004dda.1	-	26	3857	c.3613G>A	c.(3613-3615)Gaa>Aaa	p.E1205K	DMD_uc004dcz.2_Missense_Mutation_p.E1082K|DMD_uc004dcy.1_Missense_Mutation_p.E1201K|DMD_uc004ddb.1_Missense_Mutation_p.E1197K|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1205					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	p.N1204K(1)		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)				TGGGCCTCTTCTTTAGCTCTC	0.348000														26			25		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55782877	55782877	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:55782877G>A	uc010qhy.1	-	19	2711	c.2316C>T	c.(2314-2316)tcC>tcT	p.S772S	PCDH15_uc010qhq.2_Silent_p.S772S|PCDH15_uc010qhr.2_Silent_p.S767S|PCDH15_uc021pqv.1_Silent_p.S767S|PCDH15_uc021pqw.1_Silent_p.S779S|PCDH15_uc010qht.2_Silent_p.S774S|PCDH15_uc021pqx.1_Silent_p.S767S|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.S767S|PCDH15_uc021pqz.1_Silent_p.S745S|PCDH15_uc010qhv.1_Silent_p.S767S|PCDH15_uc010qhw.1_Silent_p.S730S|PCDH15_uc010qhx.1_Silent_p.S696S|PCDH15_uc010qhz.1_Silent_p.S767S|PCDH15_uc010qia.1_Silent_p.S745S|PCDH15_uc001jju.1_Silent_p.S767S|PCDH15_uc010qib.1_Silent_p.S745S|PCDH15_uc001jjw.3_Silent_p.S767S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	767	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)				TGCTCCCATTGGATGTGATAC	0.393000										HNSCC(58;0.16)				75			6		0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364623	29364623	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29364623C>T	uc003nmf.4	+	0	208	c.147C>T	c.(145-147)tcC>tcT	p.S49S		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTGTCATCTCCGATCCTAGAC	0.458000														97			23		0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75167505	75167505	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:75167505G>A	uc003uds.2	-	30	3147	c.3102C>T	c.(3100-3102)acC>acT	p.T1034T	HIP1_uc011kfz.2_Silent_p.T983T	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	1034					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ATTCTTTTTCGGTTACCACTT	0.418000			T	PDGFRB	CMML									200			10		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028279	21028279	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:21028279C>T	uc010sil.2	+	6	903	c.838C>T	c.(838-840)Ccg>Tcg	p.P280S	SLCO1B3_uc001rek.3_Missense_Mutation_p.P280S|SLCO1B3_uc001rel.3_Missense_Mutation_p.P280S|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	280					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	p.P280P(1)		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)					TTTTTTCTTGCCGAAAAATCC	0.348000														84			24		0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62372641	62372641	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62372641G>A	uc010rly.1	-	15	2234	c.1926C>T	c.(1924-1926)ctC>ctT	p.L642L	EML3_uc001ntr.1_Silent_p.L614L|EML3_uc001nts.1_Silent_p.L614L|EML3_uc001ntt.1_Silent_p.L526L|EML3_uc001ntu.1_Silent_p.L642L			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	642						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGTCAGCACAGAGACCAGTCT	0.562000														61			33		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815501	106815501	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:106815501C>T	uc003ymd.3	+	7	3214	c.3191C>T	c.(3190-3192)tCc>tTc	p.S1064F	ZFPM2_uc011lhs.2_Missense_Mutation_p.S795F	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	1064					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAGAACATTTCCCAGAATCCT	0.483000														27			8		0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6750520	6750520	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:6750520C>T	uc003jdx.1	+	9	1143	c.1014C>T	c.(1012-1014)ccC>ccT	p.P338P	PAPD7_uc011cmn.2_Silent_p.P338P|PAPD7_uc010itl.1_Silent_p.P158P	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	338					DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding	p.P338P(2)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCGAGTCTCCCTATGGCCAGC	0.552000														57			25		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44064780	44064780	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:44064780C>T	uc003bdy.2	-	15	2100	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	EFCAB6_uc003bdz.2_Missense_Mutation_p.E444K|EFCAB6_uc010gzi.2_Missense_Mutation_p.E444K|EFCAB6_uc010gzj.1_5'Flank|EFCAB6_uc010gzk.1_Non-coding_Transcript	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGCTGCTGTTCATCTTTTTGT	0.388000														134			13		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41143071	41143071	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:41143071C>T	uc003jmk.2	-	17	2871	c.2661G>A	c.(2659-2661)caG>caA	p.Q887Q	C6_uc003jml.1_Silent_p.Q887Q	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	887	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				CCTTGAAGCACTGTGGGGGCA	0.433000														51			25		0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1325381	1325382	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:1325381_1325382GG>AA	uc004cpk.2	-	2	295_296	c.293_294CC>TT	c.(292-294)tcc>tTT	p.S98F	CRLF2_uc022brt.1_Missense_Mutation_p.S98F|CRLF2_uc004cpl.2_5'UTR|CRLF2_uc022brs.1_Missense_Mutation_p.S98F	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	98						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CATTCCTGATGGAGAAATAGAG	0.510000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									98			19		0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172428810	172428810	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:172428810G>A	uc011bpx.2	-	0	199	c.61C>T	c.(61-63)Ctt>Ttt	p.L21F	NCEH1_uc003fig.3_Missense_Mutation_p.L21F|NCEH1_uc011bpw.2_5'UTR|NCEH1_uc011bpy.2_5'UTR	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	0					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GGCTGGCAAAGAGGAAAGGGC	0.627000											OREG0015927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			22		0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27949610	27949610	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27949610C>T	uc001boj.3	-	1	418	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	FGR_uc001bok.3_Missense_Mutation_p.R91Q|FGR_uc001bol.3_Missense_Mutation_p.R91Q|FGR_uc001bom.3_Missense_Mutation_p.R91Q	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	91	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATCCTCAGTTCGAGCCTCATA	0.562000														36			12		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123599966	123599966	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:123599966C>T	uc003vle.3	+	4	1912	c.1473C>T	c.(1471-1473)gcC>gcT	p.A491A	SPAM1_uc011koa.1_Silent_p.A147A|SPAM1_uc003vld.3_Silent_p.A491A|SPAM1_uc022aks.1_Silent_p.A491A|SPAM1_uc003vlf.4_Silent_p.A491A|SPAM1_uc010lku.3_Silent_p.A491A	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	491					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)	CACTATCTGCCACAATGTTCA	0.373000														74			33		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135613910	135613910	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:135613910G>A	uc003yup.3	-	5	2238	c.2052C>T	c.(2050-2052)ctC>ctT	p.L684L	ZFAT_uc003yun.3_Silent_p.L672L|ZFAT_uc003yuo.3_Silent_p.L672L|ZFAT_uc010meh.3_Silent_p.L672L|ZFAT_uc010mej.3_Silent_p.L622L|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.L672L|ZFAT_uc003yur.3_Silent_p.L672L	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	684					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			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)			CTGGAGGGAGGAGGTCTGAGG	0.597000														77			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061161	9061161	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9061161G>A	uc002mkp.3	-	2	26489	c.26285C>T	c.(26284-26286)tCa>tTa	p.S8762L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8764	Ser-rich.|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						GATTTCTGGTGATATTGTGGA	0.502000														80			20		0	0	1	0	0
LHX6	26468	broad.mit.edu	37	9	124979518	124979518	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:124979518C>T	uc004blx.4	-	4	583	c.511G>A	c.(511-513)Gac>Aac	p.D171N	LHX6_uc022bmw.1_5'UTR|LHX6_uc010mvw.3_Missense_Mutation_p.D142N|LHX6_uc022bmx.1_Missense_Mutation_p.D160N|LHX6_uc004bly.4_Missense_Mutation_p.D171N	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	Homo sapiens LIM homeobox 6 (LHX6), transcript variant 1, mRNA.	142	LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						CGCACCCAGTCGCTGGCGTAG	0.662000														24			19		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160094107	160094107	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160094107G>A	uc001fvc.3	+	5	649	c.517G>A	c.(517-519)Gga>Aga	p.G173R	ATP1A2_uc001fvb.2_Missense_Mutation_p.G173R|ATP1A2_uc010piz.1_Missense_Mutation_p.G18R	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	173					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GATCCGGGAGGGAGAGAAGAT	0.597000														14			7		0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6716194	6716194	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:6716194C>T	uc002gdt.3	-	5	918	c.808G>A	c.(808-810)Gat>Aat	p.D270N	TEKT1_uc010vth.2_Missense_Mutation_p.D124N	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	270					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCCTTTGTATCCTTCAGCCCA	0.537000														75			49		0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160917778	160917778	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160917778C>T	uc001fxd.3	-	6	824	c.766G>A	c.(766-768)Gag>Aag	p.E256K	ITLN2_uc009wts.3_Missense_Mutation_p.E255K|ITLN2_uc010pju.2_Missense_Mutation_p.E173K	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	256	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCTGCTCTCTCGTTATTAAAC	0.463000														96			12		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959893	157959893	+	Missense_Mutation	SNP	C	T	T	rs144856548	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:157959893C>T	uc003wno.3	-	5	761	c.640G>A	c.(640-642)Gag>Aag	p.E214K	PTPRN2_uc003wnp.3_Missense_Mutation_p.E197K|PTPRN2_uc003wnq.3_Missense_Mutation_p.E214K|PTPRN2_uc003wnr.3_Missense_Mutation_p.E176K|PTPRN2_uc011kwa.2_Missense_Mutation_p.E237K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	214						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGAGGTCCTCGCGGAGCTGG	0.647000														51			20		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151304045	151304045	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151304045A>G	uc022cgz.1	-	0	48	c.48T>C	c.(46-48)ctT>ctC	p.L16L	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.L16L|MAGEA10_uc004ffm.2_Silent_p.L16L|MAGEA10_uc004ffl.3_Silent_p.L16L	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	16								p.L16R(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGGGATTGAAGATCTTCTT	0.572000														29			29		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30963132	30963132	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:30963132C>T	uc003tbv.2	+	3	808	c.698C>T	c.(697-699)cCa>cTa	p.P233L	FAM188B_uc011kac.1_Missense_Mutation_p.P293L|FAM188B_uc010kwf.1_Missense_Mutation_p.P150L|FAM188B_uc010kwh.1_Missense_Mutation_p.P182L|FAM188B_uc022abh.1_Missense_Mutation_p.P118L	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCCTGGCCCCACGCAGCAGT	0.597000														28			19		0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63700140	63700140	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:63700140G>A	uc001jlt.2	+	2	931	c.475G>A	c.(475-477)Gac>Aac	p.D159N	ARID5B_uc010qil.2_Missense_Mutation_p.D159N	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	159					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)					CAACTTCAAAGACGTTCTCAA	0.438000														26			5		0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84255861	84255861	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:84255861G>A	uc003hoj.4	-	0	174	c.75C>T	c.(73-75)tcC>tcT	p.S25S	HPSE_uc003hoi.3_Silent_p.S25S|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_5'UTR|HPSE_uc003hok.4_Silent_p.S25S|HPSE_uc011cct.2_Silent_p.S25S|HPSE_uc021xpr.1_Silent_p.S25S	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	25					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GGGCGCCAGGGGAGAGGGGAC	0.711000														3			5		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115964637	115964637	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115964637G>A	uc001lbg.1	+	9	1435	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K	TDRD1_uc001lbf.3_Missense_Mutation_p.E419K|TDRD1_uc001lbh.1_Missense_Mutation_p.E419K|TDRD1_uc001lbi.1_Missense_Mutation_p.E419K|TDRD1_uc010qsc.2_Missense_Mutation_p.E89K|TDRD1_uc001lbj.3_Missense_Mutation_p.E137K	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	428					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGTAGAAGTTGAGCTGCCAAA	0.383000														72			28		0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35224069	35224069	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:35224069G>A	uc001wsk.3	-	25	5006	c.4438C>T	c.(4438-4440)Cgt>Tgt	p.R1480C	BAZ1A_uc001wsl.3_Missense_Mutation_p.R1448C	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	1480	Bromo.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		ACTTTTTCACGAATTATATTT	0.284000														39			19		0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1459186	1459186	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:1459186C>T	uc002wfg.2	-	2	746	c.518G>A	c.(517-519)gGa>gAa	p.G173E	SIRPB2_uc002wfh.3_Missense_Mutation_p.G75E|SIRPB2_uc010zpr.1_Missense_Mutation_p.G35E	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA.	173	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GACAGTGTCTCCAGTGGTCCC	0.577000														50			19		0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26012982	26012982	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:26012982G>A	uc001bkm.2	+	1	922	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	MAN1C1_uc009vry.1_Missense_Mutation_p.E18K	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	198					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.E198K(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GGGGAAAAACGAACTCCGTCC	0.498000														141			59		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13692161	13692161	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13692161G>A	uc003jfd.2	-	78	13849	c.13807C>T	c.(13807-13809)Ctc>Ttc	p.L4603F	DNAH5_uc003jfc.2_Missense_Mutation_p.L771F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4603					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)					GCTGTCCTGAGATCCACAGCG	0.502000									Kartagener syndrome					75			32		0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24808358	24808358	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24808358G>A	uc001wpb.3	-	2	544	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	RIPK3_uc001wpa.3_5'Flank|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.R112W	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	112	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GGCCAGGGCCGAGGGCACTGG	0.602000														59			29		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58155415	58155415	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58155415C>T	uc003djj.2	+	44	7681	c.7516C>T	c.(7516-7518)Ccc>Tcc	p.P2506S	FLNB_uc010hne.2_Missense_Mutation_p.P2537S|FLNB_uc003djk.2_Missense_Mutation_p.P2495S|FLNB_uc010hnf.2_Missense_Mutation_p.P2482S|FLNB_uc003djl.2_Missense_Mutation_p.P2326S|FLNB_uc003djm.2_Missense_Mutation_p.P2313S|BC041347_uc003djn.3_Intron	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2506	Hinge 2 (By similarity).|Interaction with INPPL1.|Self-association site, tail (By similarity).				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TAGCGCCATTCCCAAGGCATC	0.587000														101			49		0	0	1	0	0
RNASE11	122651	broad.mit.edu	37	14	21052444	21052444	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21052444G>A	uc010ahw.3	-	2	526	c.190C>T	c.(190-192)Ctc>Ttc	p.L64F	RNASE11_uc010ahv.3_Missense_Mutation_p.L64F|RNASE11_uc010ahx.3_Missense_Mutation_p.L64F|RNASE11_uc001vxs.3_Missense_Mutation_p.L64F|RNASE11_uc021rnu.1_Missense_Mutation_p.L64F	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Homo sapiens ribonuclease, RNase A family, 11 (non-active) (RNASE11), mRNA.	64						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GACATGCTGAGGCTGGTATTT	0.393000														258			90		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19498517	19498517	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:19498517C>T	uc002dgc.4	+	16	3191	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	TMC5_uc010vaq.2_Silent_p.I762I|TMC5_uc002dgb.4_Silent_p.I814I|TMC5_uc010var.2_Silent_p.I814I|TMC5_uc002dgd.1_Silent_p.I568I|TMC5_uc002dge.4_Silent_p.I568I|TMC5_uc002dgf.4_Silent_p.I497I|TMC5_uc002dgg.4_Silent_p.I455I	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	814						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						CTCTTCAGATCAGCCTGATGA	0.587000														49			15		0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41246011	41246011	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:41246011G>A	uc002icq.3	-	9	1769	c.1537C>T	c.(1537-1539)Cat>Tat	p.H513Y	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.H442Y|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.H466Y|BRCA1_uc002ict.3_Missense_Mutation_p.H513Y|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.H513Y|BRCA1_uc002ide.1_Missense_Mutation_p.H344Y|BRCA1_uc010cyy.1_Missense_Mutation_p.H513Y|BRCA1_uc010whs.1_Missense_Mutation_p.H513Y|BRCA1_uc010cyz.2_Missense_Mutation_p.H466Y|BRCA1_uc010cza.2_Missense_Mutation_p.H487Y|BRCA1_uc010wht.1_Missense_Mutation_p.H217Y	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	513					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCCTCAGGATGAAGGCCTGAT	0.388000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				29			13		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68939473	68939473	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:68939473G>A	uc003xxv.1	+	4	485	c.458G>A	c.(457-459)gGa>gAa	p.G153E	PREX2_uc003xxu.1_Missense_Mutation_p.G153E|PREX2_uc011lez.1_Missense_Mutation_p.G88E	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	153	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATGCTGCTTGGAGGACGGAAG	0.348000														76			29		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3046493	3046493	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:3046493G>A	uc022aqr.1	-	34	5829	c.5439C>T	c.(5437-5439)atC>atT	p.I1813I	CSMD1_uc011kwj.2_Silent_p.I1206I|CSMD1_uc003wqe.3_Silent_p.I970I|CSMD1_uc010lrg.3_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1814	CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGGGGGACAGGATTGTACCTC	0.463000														20			6		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42695407	42695407	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:42695407G>A	uc010ggo.3	+	7	1434	c.1394G>A	c.(1393-1395)gGa>gAa	p.G465E	TOX2_uc002xle.4_Missense_Mutation_p.G423E|TOX2_uc010ggp.3_Missense_Mutation_p.G423E|TOX2_uc002xlf.4_Missense_Mutation_p.G447E|TOX2_uc010zwk.2_Missense_Mutation_p.G343E	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCAGCTCGGGATCCTGCTCA	0.632000														107			43		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75017841	75017841	+	Missense_Mutation	SNP	G	A	A	rs147534770		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:75017841G>A	uc001xqa.3	-	6	1999	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	538					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCAGTGGCCGAGGGGGCTCT	0.667000														51			15		0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47767944	47767944	+	Missense_Mutation	SNP	G	A	A	rs147160336	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47767944G>A	uc001crd.1	-	3	382	c.227C>T	c.(226-228)tCg>tTg	p.S76L	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S76L|STIL_uc010omo.1_Missense_Mutation_p.S76L|STIL_uc001crc.1_Missense_Mutation_p.S76L|STIL_uc001cre.1_Missense_Mutation_p.S76L|STIL_uc001crg.1_Missense_Mutation_p.S76L	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	76					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)				AAAGCATGACGAATTTTTTTT	0.413000														66			21		0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8758078	8758078	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8758078C>T	uc001qur.2	-	2	239	c.160G>A	c.(160-162)Ggc>Agc	p.G54S	AICDA_uc001qup.1_Missense_Mutation_p.G49S|AICDA_uc001quq.1_Missense_Mutation_p.G49S|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	54					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					ACGTGGCAGCCGTTCTGGAGA	0.557000														47			15		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670531	49670531	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:49670531C>T	uc002efs.3	-	4	2830	c.2532G>A	c.(2530-2532)ggG>ggA	p.G844G	ZNF423_uc010vgn.2_Silent_p.G727G	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	844					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGGGGGTACCCCATTGGCCG	0.597000														27			10		0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80718764	80718764	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:80718764G>A	uc002ffs.3	-	1	392	c.287C>T	c.(286-288)cCt>cTt	p.P96L		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	96						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						GCTCTTTCCAGGATCTGAAGG	0.547000														50			8		0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148601507	148601507	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:148601507G>A	uc003ewm.3	+	8	938	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	296					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CCACCTGAATGAAATCAAGGT	0.443000														77			34		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207639872	207639872	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207639872G>A	uc001hfw.3	+	2	178	c.59_splice	c.e2-1	p.G20_splice	CR2_uc001hfv.3_Splice_Site_p.G20_splice|CR2_uc009xch.3_Splice_Site_p.G20_splice	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	20					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ACTTTTCAGGGATTTCTTGTG	0.383000														186			66		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26702046	26702046	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26702046G>A	uc003acb.3	+	5	1646	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	SEZ6L_uc003acd.3_Missense_Mutation_p.E484K|SEZ6L_uc011akd.2_Missense_Mutation_p.E484K|SEZ6L_uc003ace.3_Missense_Mutation_p.E484K|SEZ6L_uc011akc.2_Missense_Mutation_p.E484K|SEZ6L_uc003acc.3_Missense_Mutation_p.E484K|SEZ6L_uc003acf.1_Missense_Mutation_p.E257K|SEZ6L_uc010gvc.1_Missense_Mutation_p.E257K	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	484	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTGGACGATTGAAGCTCCAGA	0.552000														57			26		0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113740500	113740500	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:113740500C>T	uc001vsu.3	+	20	2481	c.2481C>T	c.(2479-2481)tcC>tcT	p.S827S	MCF2L_uc001vsq.3_Silent_p.S827S|MCF2L_uc010tjr.2_Silent_p.S770S|MCF2L_uc001vsr.3_Silent_p.S774S|MCF2L_uc001vss.4_Silent_p.S768S|MCF2L_uc010tjs.2_Silent_p.S768S|MCF2L_uc001vst.1_Silent_p.S732S	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	800					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CGCTGAGCTCCATCCTGGGCA	0.637000														32			15		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104067702	104067702	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:104067702G>A	uc001tjw.3	+	22	2575	c.2389G>A	c.(2389-2391)Gga>Aga	p.G797R		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	797					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.H796Q(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGCGTTCACGGAACATGCAA	0.592000														47			12		0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20825709	20825709	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:20825709G>A	uc002zsl.2	-	2	478	c.321C>T	c.(319-321)ttC>ttT	p.F107F	KLHL22_uc011ahr.2_Intron	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	107	BTB.				cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGGTGTATATGAAATGTAGGA	0.512000														84			45		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540532	94540532	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94540532C>T	uc003unp.3	+	1	1389	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	PPP1R9A_uc010lfj.3_Silent_p.F369F|PPP1R9A_uc011kif.2_Silent_p.F369F|PPP1R9A_uc003unq.3_Silent_p.F369F|PPP1R9A_uc011kig.2_Silent_p.F369F	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	369						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)			GTGGTGATTTCACCTCTCCTG	0.433000										HNSCC(28;0.073)				56			32		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813932	106813932	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:106813932G>A	uc003ymd.3	+	7	1645	c.1622G>A	c.(1621-1623)aGc>aAc	p.S541N	ZFPM2_uc011lhs.2_Missense_Mutation_p.S272N	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	541					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GTCATTTACAGCCCTTTGATG	0.453000														95			53		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52284496	52284496	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:52284496C>T	uc003xqu.4	-	18	3939	c.3838G>A	c.(3838-3840)Gat>Aat	p.D1280N	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1280					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTCAGGTAATCCTGTGGGTAT	0.522000														23			7		0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70820186	70820186	+	Missense_Mutation	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:70820186A>C	uc002ezm.3	-	1	445	c.187T>G	c.(187-189)Tct>Gct	p.S63A	VAC14_uc010cfw.3_Intron|VAC14_uc002ezn.3_5'UTR|TRNA_Gly_uc021tko.1_5'Flank	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	63					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GGGTGCTGAGACAGGGCAAAC	0.612000														76			33		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192594	152192595	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152192594_152192595CC>TT	uc001ezt.1	-	2	1586_1587	c.1510_1511GG>AA	c.(1510-1512)ggt>AAt	p.G504N		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	504					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCGTTCACCCCTAGATGAC	0.550000														336			108		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9098546	9098546	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:9098546G>A	uc001apo.3	-	9	1410	c.1118C>T	c.(1117-1119)cCa>cTa	p.P373L	SLC2A5_uc010nzy.2_Missense_Mutation_p.P314L|SLC2A5_uc010nzz.2_Missense_Mutation_p.P258L|SLC2A5_uc010oaa.2_Missense_Mutation_p.P329L	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	373					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	p.P373A(1)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGATGTATGGCATCCAGGA	0.607000														17			10		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48413859	48413859	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48413859C>T	uc001jfa.1	-	1	1169	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	337					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.F336F(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCGATGTCCTCGAAGTTTACC	0.612000														80			28		0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119053036	119053036	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:119053036C>T	uc001pvu.3	+	8	2803	c.2588C>T	c.(2587-2589)cCt>cTt	p.P863L	NLRX1_uc001pvv.3_Missense_Mutation_p.P863L|NLRX1_uc001pvw.3_Missense_Mutation_p.P863L|NLRX1_uc001pvx.3_Missense_Mutation_p.P863L	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	863	Required for the repression of MAVS- induced interferon signaling.				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)		CGGGAGCACCCTTCCCTGGAA	0.637000														105			24		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879303	3879303	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:3879303C>T	uc002kmf.3	-	3	1293	c.766G>A	c.(766-768)Gac>Aac	p.D256N	DLGAP1_uc010wyz.2_Missense_Mutation_p.D256N|DLGAP1_uc002kmk.2_Missense_Mutation_p.D256N|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	256					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CACTTGACGTCGTTGTTGCTC	0.672000														51			17		0	0	1	0	0
SLC25A38	54977	broad.mit.edu	37	3	39433010	39433010	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:39433010C>T	uc003cjo.2	+	3	756	c.355C>T	c.(355-357)Cat>Tat	p.H119Y		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	Homo sapiens solute carrier family 25, member 38 (SLC25A38), nuclear gene encoding mitochondrial protein, mRNA.	119					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTTGCGAGGCCATCCCCCAAC	0.532000														341			28		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37256298	37256298	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:37256298C>T	uc022abv.1	-	10	1493	c.783G>A	c.(781-783)gaG>gaA	p.E261E	ELMO1_uc011kbc.2_Silent_p.E165E|ELMO1_uc003tfk.2_Silent_p.E261E|ELMO1_uc010kxg.2_Silent_p.E261E	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	261					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TATTCGCCATCTCCTGTGGAA	0.478000														69			31		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142237983	142237983	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:142237983C>T	uc002tvj.1	-	2	1297	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	109	LDL-receptor class A 2.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTACTCCTTCGTCATACCCA	0.413000										TSP Lung(27;0.18)				54			12		0	0	1	0	0
MIP	4284	broad.mit.edu	37	12	56847477	56847477	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:56847477G>A	uc001slh.3	-	1	461	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_012064	NP_036196	P30301	MIP_HUMAN	Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.	141					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						TGCAGAGCACGAACTGGAGCG	0.607000														27			19		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56899349	56899349	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:56899349G>A	uc002ekd.4	+	0	231	c.202G>A	c.(202-204)Gag>Aag	p.E68K	SLC12A3_uc010ccm.3_Missense_Mutation_p.E68K|SLC12A3_uc010ccn.3_Missense_Mutation_p.E68K	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	68			E -> K (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCCCACATATGAGCACTATGC	0.592000														109			37		0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541302	40541302	+	Silent	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40541302A>G	uc002omu.3	-	4	1529	c.1464T>C	c.(1462-1464)ctT>ctC	p.L488L	ZNF780B_uc002omv.3_Silent_p.L340L	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q487Q(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGTCGAGCAAGCTGTGTCA	0.403000														103			32		0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120979048	120979048	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:120979048G>A	uc003vjw.3	+	3	1004	c.747G>A	c.(745-747)ttG>ttA	p.L249L	WNT16_uc003vjv.3_Silent_p.L239L|WNT16_uc010lkl.3_Silent_p.L33L	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	249					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GCCATTTGTTGAAGGATAAAT	0.413000														44			22		0	0	1	0	0
PLAU	5328	broad.mit.edu	37	10	75674610	75674610	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:75674610G>A	uc001jwa.3	+	8	1052	c.906G>A	c.(904-906)tcG>tcA	p.S302S	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Silent_p.S285S|PLAU_uc010qkx.2_Silent_p.S216S|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Silent_p.S302S|PLAU_uc009xrq.1_Silent_p.S266S	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	302	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	GCCTGCCCTCGATGTATAACG	0.527000														43			19		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99438729	99438729	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:99438729G>A	uc002szf.1	-	6	2301	c.2007C>T	c.(2005-2007)gcC>gcT	p.A669A		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	669										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						GCTCCTGGGCGGCTGGGCAGG	0.736000														17			3		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38106446	38106446	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38106446C>T	uc003atr.3	+	3	398	c.127C>T	c.(127-129)Cct>Tct	p.P43S	TRIOBP_uc003atu.3_5'UTR|TRIOBP_uc003atq.1_Missense_Mutation_p.P43S|TRIOBP_uc003ats.1_5'UTR	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	43					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCTCAGGAGCCCTTCAGGTGC	0.687000														26			14		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572149	140572149	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140572149C>T	uc003lix.3	+	0	198	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	8					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTGTGCTTCCCAAGACAAA	0.473000														158			58		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031966	33031966	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:33031966C>T	uc001rlj.4	-	2	339	c.224_splice	c.e2-1	p.G75_splice	PKP2_uc001rlk.4_Splice_Site_p.G75_splice|PKP2_uc010skj.2_Splice_Site_p.G75_splice	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	75					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTGAAGATTTCCTGCAATCAA	0.333000														42			5		0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42584550	42584550	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42584550C>T	uc002osk.4	+	1	2297	c.2062C>T	c.(2062-2064)Cgc>Tgc	p.R688C	ZNF574_uc002osm.4_Missense_Mutation_p.R598C|ZNF574_uc021uva.1_Missense_Mutation_p.R598C	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	598	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GCTCATGCACCGCTACCATCA	0.622000														39			12		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	107914337	107914337	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:107914337C>T	uc001tmk.1	+	1	1730	c.1209C>T	c.(1207-1209)ccC>ccT	p.P403P	BTBD11_uc009zut.1_Silent_p.P403P|BTBD11_uc001tmj.3_Silent_p.P403P	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	403						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGGAACTGCCCATGTTCAGCC	0.567000														128			13		0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402533	248402533	+	Silent	SNP	A	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248402533A>C	uc010pzh.2	+	0	303	c.303A>C	c.(301-303)atA>atC	p.I101I		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			GAACTCAGATATTCTTCTATG	0.463000														84			39		0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129909563	129909563	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:129909563C>T	uc003vpq.3	+	2	227	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S	CPA2_uc011kpc.1_Missense_Mutation_p.P70S	NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	70					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CGTCCGAGTTCCCTTCGTCAA	0.498000														98			17		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28918362	28918362	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28918362G>A	uc002kwp.3	+	9	1562	c.1350G>A	c.(1348-1350)aaG>aaA	p.K450K		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	450	Cadherin 4.				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)			AAGTTACCAAGGAACAGTACA	0.338000														68			21		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156997953	156997953	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156997953C>T	uc003lwz.3	-	1	209	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	ADAM19_uc003lww.2_5'UTR|ADAM19_uc011ddr.1_5'UTR	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	44					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGATAAGTTCATGCTGCAGC	0.483000														70			33		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90016808	90016808	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:90016808G>A	uc003kju.3	+	44	9776	c.9680G>A	c.(9679-9681)cGa>cAa	p.R3227Q	GPR98_uc003kjt.3_Missense_Mutation_p.R933Q|GPR98_uc003kjv.3_Missense_Mutation_p.R827Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3227					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.R3227*(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATGTATCTCGAACTAATGGC	0.393000														114			51		0	0	1	0	0
KBTBD11	9920	broad.mit.edu	37	8	1950698	1950698	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:1950698C>T	uc022aqq.1	+	0	1340	c.1340C>T	c.(1339-1341)gCc>gTc	p.A447V	KBTBD11_uc003wpw.4_Missense_Mutation_p.A447V	NM_014867	NP_055682	O94819	KBTBB_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 11 (KBTBD11), mRNA.	447										lung(1)|pancreas(1)	2		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134)		ggcgccTTCGCCGTGGCGCAT	0.736000														9			3		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135673	156135673	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:156135673C>T	uc003ioq.3	+	1	1071	c.582C>T	c.(580-582)atC>atT	p.I194I	NPY2R_uc003ior.3_Silent_p.I194I|NPY2R_uc021xtm.1_Silent_p.I194I	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	194					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGATTGAGATCATCCCGGACT	0.517000														102			48		0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35332721	35332721	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:35332721G>A	uc001byc.3	-	8	2649	c.2649C>T	c.(2647-2649)atC>atT	p.I883I		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	883					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.I883M(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCACATCCTCGATGGAGAGCT	0.582000											OREG0013353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		128			55		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098545	144098545	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:144098545G>A	uc022aoj.1	-	3	438	c.438C>T	c.(436-438)gtC>gtT	p.V146V		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	146					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTTCTCCAGAGACTGCTGGCG	0.647000														35			19		0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154183798	154183798	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:154183798C>T	uc003lvo.3	+	13	2270	c.2246C>T	c.(2245-2247)cCa>cTa	p.P749L	LARP1_uc021ygh.1_Missense_Mutation_p.P621L	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	826							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGTTCAAACCCACCCTTGGAG	0.532000														117			42		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093784	30093784	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:30093784C>T	uc010dmc.3	+	0		c.2159C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		GGCCTCTGTTCACAACAGTAG	0.413000														11			4		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7569464	7569464	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7569464G>A	uc003mxp.1	+	11	1744	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	DSP_uc003mxq.1_Missense_Mutation_p.E489K|DSP_uc021yle.1_Missense_Mutation_p.E489K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	489	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		GGACAACAACGAGCGCAGCAA	0.527000														98			39		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115130449	115130449	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:115130449G>A	uc001efd.1	-	18	3258	c.2556C>T	c.(2554-2556)ttC>ttT	p.F852F	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Silent_p.F795F	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	852	dDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		GGGACTTACGGAATGGTTCCC	0.483000														49			17		0	0	1	0	0
ZNF622	90441	broad.mit.edu	37	5	16463747	16463747	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:16463747G>A	uc003jfq.3	-	1	850	c.730C>T	c.(730-732)Cca>Tca	p.P244S		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	Homo sapiens zinc finger protein 622 (ZNF622), mRNA.	244						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCAAGGGGTGGGCCTTCCTCA	0.488000														229			69		0	0	1	0	0
WFDC10B	280664	broad.mit.edu	37	20	44333618	44333618	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44333618C>T	uc002xpc.3	-	0	41	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	WFDC10B_uc002xpb.3_5'UTR|WFDC13_uc002xpd.3_Intron	NM_172131	NP_742143	Q8IUB3	WF10B_HUMAN	Homo sapiens WAP four-disulfide core domain 10B (WFDC10B), transcript variant 2, mRNA.	0						extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				GCCCTCCTTTCACAAGACACC	0.488000														147			38		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19760574	19760574	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19760574G>A	uc002nnh.4	-	17	2539	c.2511C>T	c.(2509-2511)ttC>ttT	p.F837F	ATP13A1_uc002nne.3_5'UTR|ATP13A1_uc002nnf.4_Silent_p.F205F|ATP13A1_uc002nng.3_Silent_p.F719F	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	837					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCACACGGGCGAACACCTGCA	0.672000														63			10		0	0	1	0	0
SPRY3	10251	broad.mit.edu	37	X	155004272	155004272	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:155004272C>T	uc022cio.1	+	0	739	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	SPRY3_uc004fnq.1_Silent_p.L247L	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	247	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGCCTCCATCTGTGCCAACA	0.587000														170			82		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40363885	40363885	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40363885C>T	uc002omp.4	-	30	14765	c.14757G>A	c.(14755-14757)gtG>gtA	p.V4919V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4919	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAGCTAGGCTCACAACCTGGC	0.607000														49			17		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562736	11562736	+	Splice_Site	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11562736C>G	uc001ash.4	+	3	1235	c.1097_splice	c.e3-1	p.G366_splice	PTCHD2_uc001asi.1_Splice_Site_p.G366_splice	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	366					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)		TCCTTGCAGGCTCCCTGGAGC	0.607000														17			11		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100226909	100226909	+	Silent	SNP	C	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:100226909C>G	uc001pga.3	+	24	3765	c.3261C>G	c.(3259-3261)gtC>gtG	p.V1087V	CNTN5_uc021qpb.1_Silent_p.V1087V|CNTN5_uc021qpc.1_Silent_p.V1013V|CNTN5_uc010ruk.2_Silent_p.V358V	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	1087					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CGTCATCAGTCACCTTGCTCT	0.418000														20			6		0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125487019	125487019	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125487019C>T	uc004bmu.1	+	0	751	c.751C>T	c.(751-753)Ctg>Ttg	p.L251L		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGTAGTGGTCCTGTTCTATGG	0.522000														133			12		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8807901	8807902	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8807901_8807902CC>TT	uc002mkl.2	-	0	1271_1272	c.1150_1151GG>AA	c.(1150-1152)ggc>AAc	p.G384N		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	384						cytoplasm|cytoskeleton		p.G384S(2)		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						CAGGATGGAGCCCCCGATCCAT	0.649000														44			14		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149449834	149449834	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149449834G>A	uc003lrl.3	-	7	1425	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	CSF1R_uc011dcd.2_Silent_p.F262F|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.F410F	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	410	Ig-like C2-type 5.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGCCGTTGATGAATGTCCATA	0.572000														48			17		0	0	1	0	0
IFNA22P	3453	broad.mit.edu	37	9	21278379	21278379	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:21278379G>A	uc003zou.1	-	0		c.184C>T								Homo sapiens interferon, alpha 22, pseudogene (IFNA22P), non-coding RNA.																		TCATCTCATGGAAAAGGAAGA	0.423000														33			13		0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17029467	17029467	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:17029467C>T	uc001azn.1	-	6	899	c.785_splice	c.e6-1	p.G262_splice						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		GCTGGAAAGCCCTGGGGAGGC	0.577000														36			6		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19428801	19428801	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19428801G>A	uc010tcj.1	-	0		c.17309C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ggattatcccgatctcctgac	0.507000														16			6		0	0	1	0	0
LOC400794	400794	broad.mit.edu	37	1	165551093	165551093	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:165551093C>T	uc001gdc.2	-	0		c.249G>A			LOC400794_uc001gdd.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC400794 (LOC400794), non-coding RNA.																		TCTCCCTGCCCATCACGGAAT	0.557000														5			3		0	0	1	0	0
SPATA9	83890	broad.mit.edu	37	5	94994441	94994441	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:94994441C>T	uc003klj.1	-	4	807	c.651G>A	c.(649-651)ccG>ccA	p.P217P	SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Non-coding_Transcript|SPATA9_uc003kli.1_Non-coding_Transcript	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	Homo sapiens spermatogenesis associated 9 (SPATA9), mRNA.	217					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CTGGCTTCTCCGGCAATGACC	0.403000														51			29		0	0	1	0	0
SDHAF2	54949	broad.mit.edu	37	11	61213508	61213508	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:61213508C>T	uc001nrt.3	+	3	488	c.466C>T	c.(466-468)Cca>Tca	p.P156S		NM_017841	NP_060311	Q9NX18	SDHF2_HUMAN	Homo sapiens succinate dehydrogenase complex assembly factor 2 (SDHAF2), nuclear gene encoding mitochondrial protein, mRNA.	156					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						ACTGCGTGCCCCAGATCTTGA	0.473000											OREG0021000	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		91			44		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945144	144945144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144945144G>A	uc003zaa.1	-	0	2291	c.2278C>T	c.(2278-2280)Cct>Tct	p.P760S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	760						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGTCAGAAGGGTCCAACAGG	0.642000														125			40		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168845770	168845770	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:168845770G>A	uc011bpj.1	-	4	1095	c.692C>T	c.(691-693)cCa>cTa	p.P231L	MECOM_uc010hwk.1_Missense_Mutation_p.P66L|MECOM_uc003ffj.3_Missense_Mutation_p.P107L|MECOM_uc003ffi.3_Missense_Mutation_p.P43L|MECOM_uc011bpi.1_Missense_Mutation_p.P43L|MECOM_uc003ffn.3_Missense_Mutation_p.P43L|MECOM_uc003ffk.2_Missense_Mutation_p.P43L|MECOM_uc003ffl.2_Missense_Mutation_p.P203L|MECOM_uc011bpk.1_Missense_Mutation_p.P43L|MECOM_uc010hwn.2_Missense_Mutation_p.P231L|MECOM_uc003ffm.1_Missense_Mutation_p.P107L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGTACTGCATGGAAACTTTTG	0.438000														147			59		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90281262	90281262	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:90281262G>A	uc003kju.3	+	84	18171	c.18075G>A	c.(18073-18075)gtG>gtA	p.V6025V	GPR98_uc003kjt.3_Silent_p.V3731V|GPR98_uc003kjw.3_Silent_p.V1686V|GPR98_uc003kjx.3_Silent_p.V53V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	6025					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTTTGTGGTGATTCTCCTCA	0.438000														51			8		0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47225277	47225277	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:47225277G>A	uc002pfm.3	-	15	2112	c.2079C>T	c.(2077-2079)gcC>gcT	p.A693A	STRN4_uc002pfl.3_Silent_p.A686A|STRN4_uc010xyf.2_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	686						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGGGGTCCACGGCTAGGCAGG	0.632000														70			34		0	0	1	0	0
GCG	2641	broad.mit.edu	37	2	163003880	163003880	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:163003880C>T	uc002ucc.3	-	2	493	c.237G>A	c.(235-237)atG>atA	p.M79I		NM_002054	NP_002045	P01275	GLUC_HUMAN	Homo sapiens glucagon (GCG), mRNA.	79					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	TCTTGGTATTCATCAACCACT	0.413000														181			68		0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52979922	52979922	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52979922C>T	uc001sar.2	-	8	1466	c.1380G>A	c.(1378-1380)ggG>ggA	p.G460G	KRT72_uc001saq.2_Silent_p.G460G|KRT72_uc010sns.1_Silent_p.G418G|KRT72_uc010snt.1_Silent_p.G272G	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	460	Tail.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGAAGCCAGCCCCTCCTGCCC	0.587000														46			9		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145109543	145109544	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:145109543_145109544GG>AA	uc003zar.3	-	18	2688_2689	c.2606_2607CC>TT	c.(2605-2607)ccc>cTT	p.P869L	OPLAH_uc003zas.1_Missense_Mutation_p.P144S	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	869							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TGGTGGAGTGGGGGGGCATGGA	0.644000														39			6		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50605650	50605650	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:50605650C>T	uc003tpg.4	-	3	544	c.343G>A	c.(343-345)Gag>Aag	p.E115K	DDC_uc022ade.1_Intron|DDC_uc003tpf.4_Missense_Mutation_p.E115K|DDC_uc022adb.1_Missense_Mutation_p.E77K|DDC_uc022adc.1_Missense_Mutation_p.E115K|DDC_uc022add.1_Missense_Mutation_p.E115K|DDC_uc022adf.1_Missense_Mutation_p.E115K|LOC100129427_uc022adg.1_Intron	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	115	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ATCACAGTCTCCAGCTCTGTG	0.552000														47			21		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642007	57642007	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57642007G>A	uc002qny.3	+	3	2320	c.1964G>A	c.(1963-1965)gGa>gAa	p.G655E	USP29_uc021vci.1_Missense_Mutation_p.G655E	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	655					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			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)		ATGGACCAGGGAGACATTTCT	0.493000														39			14		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207751211	207751211	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:207751211G>A	uc001hfy.3	+	20	3389	c.3249G>A	c.(3247-3249)gaG>gaA	p.E1083E	CR1_uc009xcl.1_Silent_p.E633E|CR1_uc001hfx.3_Silent_p.E1533E|CR1_uc021pij.1_Silent_p.E1083E	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1083	Sushi 17.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCAACAGAGAGAATTTTCACT	0.473000														102			21		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404029	20404029	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:20404029C>T	uc001vwj.2	+	0	263	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S67Y(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)		ATCTTTCTTTCATTGATATCT	0.388000														131			55		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113102448	113102449	+	Missense_Mutation	DNP	GG	AA	AA	rs55757519		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113102448_113102449GG>AA	uc021qqp.1	+	10	1615_1616	c.1243_1244GG>AA	c.(1243-1245)gga>AAa	p.G415K	NCAM1_uc001pnp.3_Missense_Mutation_p.G379K|NCAM1_uc021qqo.1_Missense_Mutation_p.G379K|NCAM1_uc001pnq.3_Missense_Mutation_p.G389K|NCAM1_uc001pnr.3_Missense_Mutation_p.G379K	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	391					axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane		p.G390*(2)|p.P415Q(2)|p.G381*(1)|p.A414G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CACTGATGCCGGAGAGTACATC	0.594000														76			30		0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78922032	78922032	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:78922032G>A	uc002bed.1	-	4	727	c.615C>T	c.(613-615)gcC>gcT	p.A205A	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.A23A	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	205					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TCCCTGGGAGGGCCACTATGT	0.552000														97			80		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22893441	22893441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:22893441C>T	uc002zwf.3	-	2	248	c.92G>A	c.(91-93)gGg>gAg	p.G31E	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.G15E|PRAME_uc010gtr.3_Missense_Mutation_p.G31E|PRAME_uc002zwg.3_Missense_Mutation_p.G31E|PRAME_uc002zwh.3_Missense_Mutation_p.G31E|PRAME_uc002zwi.3_Missense_Mutation_p.G31E|PRAME_uc002zwj.3_Missense_Mutation_p.G31E|PRAME_uc002zwk.3_Missense_Mutation_p.G31E	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	31					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CAGGCTCTGCCCTGCCAGCTC	0.592000														198			33		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120969584	120969584	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:120969584C>T	uc003eec.4	+	14	1555	c.1415C>T	c.(1414-1416)tCa>tTa	p.S472L	STXBP5L_uc011bji.2_Missense_Mutation_p.S472L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	472					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCAGATGGATCAATAAAATTT	0.294000														33			12		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584496	7584496	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7584496G>A	uc003mxp.1	+	23	7280	c.7001G>A	c.(7000-7002)cGa>cAa	p.R2334Q	DSP_uc003mxq.1_Missense_Mutation_p.R1735Q|DSP_uc021yle.1_Missense_Mutation_p.R1891Q	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2334	Globular 2.				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)		TCTGCAGAACGAGCTGTCACT	0.463000														56			21		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959834	157959834	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:157959834C>T	uc003wno.3	-	5	820	c.699G>A	c.(697-699)gtG>gtA	p.V233V	PTPRN2_uc003wnp.3_Silent_p.V216V|PTPRN2_uc003wnq.3_Silent_p.V233V|PTPRN2_uc003wnr.3_Silent_p.V195V|PTPRN2_uc011kwa.2_Silent_p.V256V	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	233						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CACCACTGTCCACCTTAGGGC	0.697000														36			18		0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129042	248129042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248129042C>T	uc010pzd.2	+	0	409	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTCTTATGATCGCTATGTAGC	0.438000														318			111		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9038103	9038103	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9038103G>A	uc002mkp.3	-	7	36377	c.36173C>T	c.(36172-36174)tCc>tTc	p.S12058F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12060	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						GGAGGATGTGGAAATCCCTGG	0.483000														3			4		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87487623	87487623	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:87487623G>A	uc001kdl.1	-	9	1623	c.1522C>T	c.(1522-1524)Ctc>Ttc	p.L508F	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.L79F	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	508						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TTGCTGATGAGCTCCCCGATC	0.537000										Multiple Myeloma(13;0.14)				70			17		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343311	248343311	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248343311C>T	uc010pzf.2	+	0	24	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T7T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATCAGACCTTCAACTCCGACT	0.423000														254			51		0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153749612	153749612	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153749612C>T	uc001fcz.3	+	2	1158	c.1093C>T	c.(1093-1095)Cac>Tac	p.H365Y	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	365					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTGTGGTGTCCACCAGGAAGA	0.587000														105			36		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240849	126240849	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126240849G>A	uc003ifj.4	+	0	3283	c.3283G>A	c.(3283-3285)Gat>Aat	p.D1095N		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1095	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGATGTAAATGATAACAGACC	0.383000														177			72		0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34487474	34487474	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:34487474C>T	uc002xek.1	+	9	1576	c.1465C>T	c.(1465-1467)Ccg>Tcg	p.P489S	PHF20_uc002xei.1_Missense_Mutation_p.P489S|PHF20_uc010gfo.1_Missense_Mutation_p.P489S|PHF20_uc002xej.1_Missense_Mutation_p.P373S	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AGAAGAGAGCCCGGGAAAGAG	0.512000														56			19		0	0	1	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6954416	6954416	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrY:6954416G>A	uc004frb.3	+	15	1885	c.1238G>A	c.(1237-1239)gGg>gAg	p.G413E	TBL1Y_uc004frc.3_Missense_Mutation_p.G413E|TBL1Y_uc004frd.3_Missense_Mutation_p.G413E|TBL1Y_uc011nap.2_Missense_Mutation_p.G255E	NM_033284	NP_599021	Q9BQ87	TBL1Y_HUMAN	Homo sapiens transducin (beta)-like 1, Y-linked (TBL1Y), transcript variant 1, mRNA.	413					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						AGCCCCACCGGGCCTGCCACC	0.537000														13			13		0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49700992	49700992	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:49700992G>A	uc021zai.1	-	5	594	c.506C>T	c.(505-507)tCt>tTt	p.S169F	CRISP3_uc003ozs.3_Missense_Mutation_p.S159F	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	146					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GAGGTATGAAGAGTACCAAAC	0.328000														129			61		0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198561	15198561	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15198561C>T	uc010xoe.2	+	0	685	c.685C>T	c.(685-687)Cct>Tct	p.P229S		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CTTTAAGATCCCTTCTACTCG	0.517000														61			22		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541680	133541680	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:133541680C>T	uc002ttp.3	-	13	3078	c.2704G>A	c.(2704-2706)Gag>Aag	p.E902K	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	902							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCACTAGACTCAATGGCAGGC	0.647000														55			18		0	0	1	0	0
EFNA3	1944	broad.mit.edu	37	1	155039326	155039326	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:155039326G>A	uc001fhc.3	+	1	321	c.234G>A	c.(232-234)gtG>gtA	p.V78V	EFNA3_uc010pew.2_Intron|LOC100505666_uc021pan.1_5'Flank|EFNA3_uc001fhd.3_Silent_p.V78V|EFNA3_uc001fhe.3_Silent_p.V78V	NM_182689	NP_872631	P52797	EFNA3_HUMAN	Homo sapiens ephrin-A4 (EFNA4), transcript variant 2, mRNA.	91					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGTACATGGTGGACTGGCCAG	0.612000														43			20		0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723446	48723446	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48723446G>A	uc001rrm.3	+	0	684	c.372G>A	c.(370-372)aaG>aaA	p.K124K		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	124					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GGGTCTGGAAGGTTCCCAAGC	0.746000														20			11		0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6290997	6290997	+	Missense_Mutation	SNP	C	T	T	rs148924129		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6290997C>T	uc001mcp.3	+	1	505	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	CCKBR_uc001mcq.3_Missense_Mutation_p.R12C|CCKBR_uc001mcr.3_Missense_Mutation_p.R84C|CCKBR_uc001mcs.3_Missense_Mutation_p.R84C	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	84					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ACTGAGCCGCCGCCTGAGGAC	0.552000														84			30		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55512153	55512153	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55512153G>A	uc021vbq.1	+	12	3187	c.3076G>A	c.(3076-3078)Gaa>Aaa	p.E1026K	NLRP2_uc010yfp.2_Missense_Mutation_p.E1003K|NLRP2_uc002qij.3_Missense_Mutation_p.E1026K|NLRP2_uc010esp.3_Missense_Mutation_p.E1004K|NLRP2_uc010esn.3_Missense_Mutation_p.E1002K|NLRP2_uc010eso.3_Missense_Mutation_p.E1023K	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	1026					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTTTAATGATGAACTCAATAA	0.388000														93			42		0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890533	23890533	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:23890533G>C	uc001ywj.4	-	0	2461	c.2357C>G	c.(2356-2358)tCc>tGc	p.S786C		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GACACTTGAGGAGGGAGCAAA	0.587000														56			5		0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624451	123624451	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123624451C>T	uc010rzy.2	-	0	776	c.776G>A	c.(775-777)aGa>aAa	p.R259K		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGCTGTGGGTCTTAGGTACAT	0.463000														68			20		0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248845324	248845324	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248845324G>A	uc001ieu.1	-	0	282	c.282C>T	c.(280-282)ggC>ggT	p.G94G		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G94G(2)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GAGCCACACAGCCAAGATAAG	0.488000														40			8		0	0	1	0	0
C14orf102	55051	broad.mit.edu	37	14	90770548	90770548	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:90770548G>A	uc001xyi.2	-	4	969	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.2_Missense_Mutation_p.P15S	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	246							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TCAGATGAGGGAGGTTCAGTT	0.448000														120			43		0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	64981640	64981640	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:64981640C>T	uc021qlg.1	+	0	330	c.297C>T	c.(295-297)tcC>tcT	p.S99S	SLC22A20_uc021qlh.1_5'UTR	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 1, mRNA.	97					ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GCCCCAACTCCTCCATCCCGG	0.682000														2			3		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51382209	51382209	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:51382209C>T	uc001wyu.3	-	10	1375	c.1248G>A	c.(1246-1248)gtG>gtA	p.V416V	PYGL_uc010tqq.2_Silent_p.V382V	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	416					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GAAACAAGGCCACAATTCTCT	0.448000														68			25		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74276746	74276746	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74276746C>T	uc002jrd.1	-	9	4132	c.3952G>A	c.(3952-3954)Gag>Aag	p.E1318K	QRICH2_uc010dgw.1_Missense_Mutation_p.E162K	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1318							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACATCGATCTCCATCTCCAGG	0.587000														78			18		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143080913	143080913	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:143080913G>A	uc003qjd.3	-	8	7255	c.6512C>T	c.(6511-6513)cCt>cTt	p.P2171L		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ACTTACAGGAGGCCCCAATAC	0.433000														65			20		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113519003	113519003	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:113519003G>A	uc003ynu.3	-	28	4971	c.4812C>T	c.(4810-4812)ttC>ttT	p.F1604F	CSMD3_uc003yns.3_Silent_p.F876F|CSMD3_uc003ynt.3_Silent_p.F1564F|CSMD3_uc011lhx.2_Silent_p.F1500F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1604	CUB 9.					integral to membrane|plasma membrane		p.F1604L(2)|p.F1604_P1605>LA(2)|p.F1564L(1)|p.F1564_P1565>LA(1)		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						ATGGATGAGGGAAGTTTGGTG	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				70			15		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145427402	145427402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:145427402C>T	uc003lnt.3	+	5	1365	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F	SH3RF2_uc011dbl.1_Missense_Mutation_p.S376F|SH3RF2_uc011dbm.1_5'Flank|SH3RF2_uc003lnu.3_5'Flank	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	376							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)			CTGCCTGGCTCCCAGCAACAC	0.537000														54			20		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921186	247921186	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247921186G>A	uc010pza.2	-	0	523	c.523C>T	c.(523-525)Cat>Tat	p.H175Y		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGAAATGATGGATGATATTG	0.478000														17			6		0	0	1	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142499852	142499852	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142499852C>T	uc003wbe.4	+	3		c.522C>T			TCRBV3S1_uc022anx.1_Non-coding_Transcript|TCRBV3S1_uc003wbi.4_Non-coding_Transcript|TCRBV3S1_uc022any.1_Non-coding_Transcript|TCRBV3S1_uc003wbm.4_Non-coding_Transcript|TCRBV3S1_uc003wbn.4_Non-coding_Transcript|TCRBV3S1_uc010los.3_Non-coding_Transcript					Human TCR Cbeta1 chain cDNA.																		GGGAAGGCCACCTTGTATGCC	0.557000														42			13		0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139089576	139089576	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139089576C>T	uc004cgz.3	-	5	923	c.804G>A	c.(802-804)ttG>ttA	p.L268L	LHX3_uc022bpm.1_3'UTR|LHX3_uc004cha.3_Silent_p.L263L	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	263					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CCATTTCCGCCAAGGAAGGCT	0.687000														23			8		0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38818217	38818217	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:38818217C>T	uc002hvc.2	-	1	241	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	KRT222_uc002hvb.2_Missense_Mutation_p.R19Q|KRT222_uc010cxc.3_Missense_Mutation_p.R19Q	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	59						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						CCACTGGCGTCGGGCCTCCTT	0.468000														116			92		0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458484	248458484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248458484G>A	uc010pzj.2	-	0	397	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	133					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)			CAGCTCATGAGAGTGGGATAT	0.602000														49			15		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52575039	52575039	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:52575039C>T	uc002lfs.3	-	10	1100	c.928G>A	c.(928-930)Gta>Ata	p.V310I	CCDC68_uc002lft.3_Missense_Mutation_p.V310I	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	310										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GCCTTAGATACCTTTGTCCTA	0.378000														107			10		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093026	143093026	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:143093026G>A	uc003qjd.3	-	4	3593	c.2850C>T	c.(2848-2850)tcC>tcT	p.S950S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	950	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ACTCCCCTGAGGAGTGCTCCA	0.557000														52			34		0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57796460	57796460	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:57796460C>T	uc003hch.3	+	3	1783	c.1436C>T	c.(1435-1437)cCt>cTt	p.P479L	REST_uc003hci.3_Missense_Mutation_p.P479L|REST_uc010ihf.3_Missense_Mutation_p.P153L	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	479	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GAGAAAAAGCCTTCTAATAAT	0.373000														52			4		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747663	143747663	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143747663C>T	uc011ktw.2	+	0	169	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ACTGCACACCCCCATGTACTT	0.507000														94			42		0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29628666	29628666	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:29628666G>A	uc003cel.3	+	3	739	c.369G>A	c.(367-369)aaG>aaA	p.K123K	RBMS3_uc010hfq.3_Silent_p.K123K|RBMS3_uc003cek.3_Silent_p.K123K|RBMS3_uc010hfr.3_Silent_p.K123K|RBMS3_uc003cem.3_Silent_p.K122K	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	123	RRM 1.					cytoplasm	RNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CATCTCTCAAGGCAAATGGCG	0.398000														81			5		0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68929890	68929890	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:68929890C>T	uc021xag.1	-	2	614	c.121G>A	c.(121-123)Gga>Aga	p.G41R	FAM19A4_uc021xah.1_Missense_Mutation_p.G41R|5S_rRNA_uc021xai.1_5'Flank	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 (FAM19A4), transcript variant 1, mRNA.	41						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		CCTGCATGTCCCCGGAGGTGC	0.478000														55			18		0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69265641	69265641	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:69265641C>T	uc001sup.3	-	3	415	c.354G>A	c.(352-354)cgG>cgA	p.R118R	CPM_uc001sur.3_Silent_p.R118R|CPM_uc001suq.3_Silent_p.R118R	NM_198320	NP_938079	P14384	CBPM_HUMAN	Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA.	118					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	p.R118R(1)		large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGATGTGTATCCGGGTACTAT	0.463000														109			33		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124201687	124201687	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:124201687C>T	uc003ehg.3	+	27	4345	c.4218C>T	c.(4216-4218)tcC>tcT	p.S1406S	KALRN_uc010hrv.1_Silent_p.S1397S|KALRN_uc003ehf.1_Silent_p.S1406S|KALRN_uc011bjy.1_Silent_p.S1397S|KALRN_uc003ehh.1_Silent_p.S752S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1406	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGGCCAACTCCATCTCTTCCT	0.512000														129			16		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56392911	56392911	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56392911C>T	uc002qmd.4	+	9	3365	c.2943C>T	c.(2941-2943)acC>acT	p.T981T	NLRP4_uc002qmf.3_Silent_p.T906T|NLRP4_uc010etf.3_Silent_p.T756T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	981							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTAACCTGACCATCACAGACG	0.478000														40			18		0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73346025	73346025	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:73346025G>A	uc001vix.4	-	10	1887	c.1513C>T	c.(1513-1515)Cat>Tat	p.H505Y	DIS3_uc001viy.4_Missense_Mutation_p.H475Y|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	505					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TCAGCAATATGAACACCAACC	0.333000										Multiple Myeloma(4;0.011)				104			22		0	0	1	0	0
EED	8726	broad.mit.edu	37	11	85989562	85989562	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:85989562C>T	uc001pbp.3	+	11	1787	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*	EED_uc001pbq.3_3'UTR|EED_uc001pbr.3_Nonsense_Mutation_p.R466*	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	441	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GGATCGACTTCGATAAAATAC	0.383000														55			20		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140779344	140779344	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140779344C>T	uc003lkf.2	+	0	1650	c.1650C>T	c.(1648-1650)gaC>gaT	p.D550D	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.D550D	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	556	Cadherin 5.				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)			TGGTGGGCGACCGAAACGACA	0.682000														35			10		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27228254	27228254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:27228254C>T	uc011lno.2	+	20	3564	c.3122C>T	c.(3121-3123)tCa>tTa	p.S1041L	TEK_uc003zqi.4_Missense_Mutation_p.S1084L|TEK_uc011lnp.2_Missense_Mutation_p.S936L	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	1084	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GAGAGGCCATCATTTGCCCAG	0.413000														109			16		0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46608058	46608058	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:46608058G>A	uc002ink.1	-	0	215	c.209C>T	c.(208-210)tCg>tTg	p.S70L	HOXB1_uc021tzf.1_Missense_Mutation_p.S70L	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	70						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCCCAGGGTCGAAGGCGGCTG	0.682000														47			16		0	0	1	0	0
ABHD6	57406	broad.mit.edu	37	3	58271159	58271159	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58271159C>T	uc003djs.4	+	7	1226	c.816C>T	c.(814-816)atC>atT	p.I272I	ABHD6_uc003djt.4_Silent_p.I272I	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN	Homo sapiens abhydrolase domain containing 6 (ABHD6), mRNA.	272						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CGACGCAGATCATCTGGGGGA	0.483000														64			21		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75902057	75902057	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:75902057C>T	uc021zbv.1	-	2	240	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.E69K|COL12A1_uc003pht.3_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	69	Fibronectin type-III 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.E69E(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGGGTAAATTCTTTAGTAGGC	0.328000														56			8		0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42866339	42866339	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:42866339G>A	uc010gor.3	-	2	354	c.293C>T	c.(292-294)tCc>tTc	p.S98F	TMPRSS2_uc002yzj.3_Missense_Mutation_p.S61F|TMPRSS2_uc010gos.1_Missense_Mutation_p.S61F	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	61					proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GACGGGGTTGGAAGCCTGCGT	0.602000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate									40			12		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124403488	124403488	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:124403488G>A	uc001uft.4	+	63	11169	c.11144G>A	c.(11143-11145)gGc>gAc	p.G3715D		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3715					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TATAACCACGGCTGCACAGGT	0.498000														72			6		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18753478	18753478	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:18753478C>T	uc003zne.4	+	15	2341	c.2189C>T	c.(2188-2190)cCa>cTa	p.P730L		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	730						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AATTGCCCCCCAGCCTGGTAC	0.512000														15			6		0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509965	105509965	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:105509965G>A	uc003yma.3	-	4	942	c.815C>T	c.(814-816)tCt>tTt	p.S272F	LRP12_uc003ymb.3_Missense_Mutation_p.S253F|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	272	CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.S272F(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATAATTGGGAGAATTAAAAGT	0.398000														53			26		0	0	1	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51237684	51237684	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:51237684G>A	uc001rwx.4	+	1	294	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	TMPRSS12_uc001rwy.3_Missense_Mutation_p.E83K	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN	Homo sapiens transmembrane (C-terminal) protease, serine 12 (TMPRSS12), mRNA.	83	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.T82T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						AGGGGGCACCGAAGCACAAGC	0.473000														6			6		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110493734	110493734	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:110493734C>T	uc003yne.3	+	55	9504	c.9400C>T	c.(9400-9402)Cat>Tat	p.H3134Y		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3134	G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TAGAGGAAATCATACTACACA	0.398000										HNSCC(38;0.096)				15			5		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85518140	85518140	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:85518140G>A	uc001tac.3	+	16	3961	c.3850G>A	c.(3850-3852)Gaa>Aaa	p.E1284K	LRRIQ1_uc021rbo.1_Missense_Mutation_p.E1162K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1284										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CGCCACATGTGAAAATATGGA	0.448000														121			66		0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987313	154987313	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:154987313C>T	uc001fgj.4	+	4	564	c.279C>T	c.(277-279)ttC>ttT	p.F93F	ZBTB7B_uc009wpa.3_Silent_p.F59F|ZBTB7B_uc001fgk.4_Silent_p.F59F|ZBTB7B_uc010peq.2_Silent_p.F93F|ZBTB7B_uc001fgl.4_Silent_p.F59F	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	59	BTB.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCACTACTTCAAGAAGCTTT	0.652000														122			10		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106970943	106970943	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106970943C>T	uc001kyi.1	+	16	2537	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	770						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCCCAGCTTTCTGGTACAATC	0.448000														47			23		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38481797	38481797	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:38481797G>A	uc010ive.1	-	19	3526	c.3194C>T	c.(3193-3195)tCc>tTc	p.S1065F	LIFR_uc003jli.2_Missense_Mutation_p.S1065F	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	1065					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAATTGTCGGGAATTAATGGA	0.388000			T	PLAG1	salivary adenoma									156			58		0	0	1	0	0
SLC35C1	55343	broad.mit.edu	37	11	45832766	45832766	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:45832766G>A	uc001nbp.3	+	1	1687	c.975G>A	c.(973-975)acG>acA	p.T325T	SLC35C1_uc001nbo.3_Silent_p.T312T|SLC35C1_uc010rgm.2_Silent_p.T312T	NM_018389	NP_001138738	Q96A29	FUCT1_HUMAN	Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 1, mRNA.	325						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		TCTGGTGGACGAGCAACATGA	0.632000														16			22		0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88814571	88814571	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:88814571G>A	uc010iko.1	+	3	1198	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		GCAGCTCAAGGAGTTTGATGG	0.507000														31			4		0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156476087	156476087	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156476087C>T	uc010jij.1	-	4	928	c.743G>A	c.(742-744)aGa>aAa	p.R248K	HAVCR1_uc011ddl.1_Missense_Mutation_p.R79K|HAVCR1_uc003lwi.2_Missense_Mutation_p.R248K|HAVCR1_uc021ygj.1_Missense_Mutation_p.R248K|HAVCR1_uc021ygk.1_Missense_Mutation_p.R79K	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	243					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTGGGTTCTCTCCTTATTGC	0.463000														86			39		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23915544	23915544	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:23915544G>A	uc001uon.2	-	9	3060	c.2471C>T	c.(2470-2472)tCg>tTg	p.S824L	SACS_uc001uoo.2_Missense_Mutation_p.S677L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	824				QTCVELIRLRIPSLVILDDES -> FLFDEDSNGKLKMVAV LITSC (in Ref. 3; CAE45964).	cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATGACTAACGATGGAATCCT	0.383000														82			36		0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1879722	1879722	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1879722C>T	uc003jcz.2	-	3	751	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	IRX4_uc011cmf.1_Missense_Mutation_p.R72Q	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	211					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R211W(1)		endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCACTTGTTCCGCGGCGGCCA	0.662000														79			9		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219884425	219884425	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:219884425C>T	uc002vjl.1	-	19	3360	c.3276G>A	c.(3274-3276)gaG>gaA	p.E1092E	CCDC108_uc002vjm.3_5'UTR	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1092						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCCTGCTTCTCCCCAGCCT	0.622000														27			6		0	0	1	0	0
DDX20	11218	broad.mit.edu	37	1	112305305	112305305	+	Missense_Mutation	SNP	C	T	T	rs61755354		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:112305305C>T	uc001ebs.3	+	8	1468	c.1111C>T	c.(1111-1113)Cgt>Tgt	p.R371C	DDX20_uc010owf.2_Missense_Mutation_p.R133C|DDX20_uc001ebt.3_5'UTR	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA.	371	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAGACTTCTCGTGGGATTGA	0.403000														125			17		0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31712394	31712394	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:31712394G>A	uc021wuu.1	-	8	2479	c.1808C>T	c.(1807-1809)cCg>cTg	p.P603L	OSBPL10_uc003ceu.1_Missense_Mutation_p.P360L|OSBPL10_uc011axf.2_Missense_Mutation_p.P539L	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	603					lipid transport		lipid binding	p.P603L(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CTCCACCCACGGGATGGTGAG	0.567000														86			7		0	0	1	0	0
TRAF1	7185	broad.mit.edu	37	9	123671621	123671621	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:123671621G>A	uc004bku.2	-	6	1491	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	TRAF1_uc011lyg.2_Silent_p.L185L|TRAF1_uc010mvl.2_Silent_p.L307L	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	307	MATH.				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						TACAGCCGCAGGCACAACTTG	0.547000														198			26		0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112958820	112958820	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:112958820C>T	uc001ebx.3	+	2	261	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	11						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCCTGAACTCCTGACACTAT	0.343000														103			33		0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100177947	100177947	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:100177947C>T	uc004egn.2	-	1	1044	c.439G>A	c.(439-441)Gag>Aag	p.E147K	XKRX_uc011mre.1_Intron	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA.	147						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						ATCAGCACCTCCTCGCCATCT	0.537000														60			71		0	0	1	0	0
TINAGL1	64129	broad.mit.edu	37	1	32042974	32042974	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32042974C>T	uc001bta.3	+	1	351	c.225C>T	c.(223-225)ctC>ctT	p.L75L	TINAGL1_uc010ogi.1_Silent_p.L75L|TINAGL1_uc010ogj.2_Silent_p.L75L|TINAGL1_uc010ogk.1_Silent_p.L75L|TINAGL1_uc021oko.1_5'Flank	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	75	SMB.				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		ACTGTGACCTCTTCTGCAACC	0.657000														148			33		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81167172	81167172	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:81167172G>A	uc002fgh.1	-	34	5850	c.5850C>T	c.(5848-5850)atC>atT	p.I1950I	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1951					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCCTACCCAGGATTTCTCTGA	0.527000														37			7		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43771946	43771946	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43771946G>A	uc002owd.4	-	1	519	c.420C>T	c.(418-420)ttC>ttT	p.F140F	PSG9_uc002owe.4_Silent_p.F140F|PSG9_uc010xwm.2_Silent_p.F140F|PSG9_uc002owf.4_Silent_p.F140F|PSG9_uc002owg.2_Silent_p.F140F	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	140	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGTATAAGGTGAAGGTGAAAT	0.488000														209			77		0	0	1	0	0
MIPEP	4285	broad.mit.edu	37	13	24455909	24455909	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:24455909G>A	uc001uox.4	-	2	509	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.	127					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CAGGGTGAGCGATTTTCACAA	0.458000														34			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599149	179599149	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179599149G>A	uc021vsy.1	-	48	11895	c.11670C>T	c.(11668-11670)atC>atT	p.I3890I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I551I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4817							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)			TAAACGAAAAGATCTCCAGAC	0.383000														162			52		0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82321756	82321756	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:82321756C>T	uc004ald.3	+	10	1706	c.857C>T	c.(856-858)cCa>cTa	p.P286L	TLE4_uc004alc.3_Missense_Mutation_p.P293L|TLE4_uc010mpr.3_Missense_Mutation_p.P172L|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Missense_Mutation_p.P261L|TLE4_uc010mps.3_Intron|TLE4_uc004alf.3_Missense_Mutation_p.P232L	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						CCGATTAGTCCAGCCTCTATT	0.527000														158			65		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45795022	45795022	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:45795022C>T	uc003bgc.3	-	5	1118	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	SMC1B_uc003bgd.3_Missense_Mutation_p.E356K|SMC1B_uc003bge.1_Missense_Mutation_p.E139K	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	356					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AAAATTTCTTCCTCAATCTGC	0.378000														192			23		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561402	44561402	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:44561402G>A	uc002lcr.1	-	0	587	c.234C>T	c.(232-234)ctC>ctT	p.L78L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	78	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTCGGTCCACGAGCACCAGCT	0.642000														45			18		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47944643	47944643	+	Missense_Mutation	SNP	A	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:47944643A>T	uc010ele.3	-	3	1834	c.1818T>A	c.(1816-1818)aaT>aaA	p.N606K	SLC8A2_uc002pgx.3_Missense_Mutation_p.N606K|SLC8A2_uc010xyq.2_Missense_Mutation_p.N362K|SLC8A2_uc010xyr.2_Missense_Mutation_p.N69K			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	606	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAATGAAGAAATTATCCTTTT	0.542000														44			23		0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186362702	186362702	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:186362702C>T	uc010hyq.3	+	4	848	c.587C>T	c.(586-588)tCt>tTt	p.S196F	FETUB_uc011brz.2_Missense_Mutation_p.S48F|FETUB_uc003fqn.3_Missense_Mutation_p.S196F|FETUB_uc010hyr.3_Missense_Mutation_p.S159F|FETUB_uc010hys.3_Missense_Mutation_p.S48F|FETUB_uc003fqp.4_Missense_Mutation_p.S131F	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	196	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		ACCAGGGCTTCTAGCCAGGTA	0.478000														74			17		0	0	1	0	0
ARRDC2	27106	broad.mit.edu	37	19	18121442	18121442	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:18121442C>T	uc002nhv.3	+	6	1217	c.1074C>T	c.(1072-1074)ccC>ccT	p.P358P	ARRDC2_uc002nhu.3_Silent_p.P353P	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	Homo sapiens arrestin domain containing 2 (ARRDC2), transcript variant 1, mRNA.	358										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GGCAGAGCCCCTTCCCGCTTC	0.632000														78			37		0	0	1	0	0
C1orf115	79762	broad.mit.edu	37	1	220870013	220870013	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:220870013C>T	uc001hmp.1	+	1	486	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_024709	NP_078985	Q9H7X2	CA115_HUMAN	Homo sapiens chromosome 1 open reading frame 115 (C1orf115), mRNA.	123						integral to membrane		p.F123F(2)		large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0273)		TGCAAGGCTTCGCTGCAGCCT	0.557000														116			46		0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44791515	44791515	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44791515G>A	uc002oza.4	-	4	2176	c.2073C>T	c.(2071-2073)ggC>ggT	p.G691G	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Silent_p.G687G	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	691					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CCTGACTGAAGCCCTTCCCAC	0.512000														98			24		0	0	1	0	0
SERPINA13	388007	broad.mit.edu	37	14	95107644	95107644	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:95107644G>A	uc001ydt.3	+	1	249	c.161G>A	c.(160-162)gGa>gAa	p.G54E						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						TCAGACCAAGGACCCCAGAGG	0.542000														20			7		0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	168014196	168014196	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:168014196C>T	uc001gew.3	+	13	2111	c.1758C>T	c.(1756-1758)gaC>gaT	p.D586D	DCAF6_uc001gex.3_Silent_p.D663D|DCAF6_uc010plk.2_Silent_p.D632D|DCAF6_uc001gev.3_Silent_p.D606D|DCAF6_uc001gey.3_Silent_p.D459D|DCAF6_uc001gez.3_5'UTR	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	586					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AAAGAAATGACCTCAATCTTG	0.428000														172			53		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94109943	94109943	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94109943G>A	uc001ybv.1	+	32	5679	c.5596G>A	c.(5596-5598)Gag>Aag	p.E1866K	UNC79_uc001ybs.1_Missense_Mutation_p.E1844K	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2021						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						ATACGATGAAGAGACACTTGG	0.483000														71			36		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754281	49754281	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:49754281G>A	uc003ozu.3	-	0	773	c.620C>T	c.(619-621)cCc>cTc	p.P207L		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	207					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.P207P(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGCCAGAAAGGGTCTCACTGG	0.433000														132			46		0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151789722	151789722	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151789722C>T	uc001ezh.3	-	2	213	c.105G>A	c.(103-105)ggG>ggA	p.G35G	RORC_uc001ezg.3_Silent_p.G14G|RORC_uc010pdo.2_Silent_p.G89G|RORC_uc010pdp.2_Silent_p.G35G	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	35					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACGACTTGTCCCCACAGATTT	0.498000														65			20		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	271138	271138	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:271138C>T	uc001qhw.2	+	7	2490	c.2490C>T	c.(2488-2490)atC>atT	p.I830I	IQSEC3_uc001qhu.1_Silent_p.I527I	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	830	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGGTAGGCATCTATGAGAGGA	0.577000														18			5		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26681985	26681985	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:26681985G>A	uc001mqt.4	+	26	3085	c.2940G>A	c.(2938-2940)tgG>tgA	p.W980*	ANO3_uc010rdr.2_Nonsense_Mutation_p.W964*|ANO3_uc010rds.2_Nonsense_Mutation_p.W819*|ANO3_uc010rdt.2_Nonsense_Mutation_p.W834*	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	980						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ACCATGAATGGCCTTAGTTGA	0.418000														86			26		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29879498	29879498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:29879498G>A	uc003afo.3	+	1	1089	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N		NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	340	Coil 2B.|Rod.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAGCACCAAGGACTCACTGGA	0.612000														102			26		0	0	1	0	0
RBPJ	3516	broad.mit.edu	37	4	26387991	26387991	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:26387991C>T	uc003grx.2	+	2	312	c.76C>T	c.(76-78)Cct>Tct	p.P26S	RBPJ_uc003gry.2_Missense_Mutation_p.P11S|RBPJ_uc003grz.2_Missense_Mutation_p.P26S|RBPJ_uc011bxt.2_Missense_Mutation_p.P26S|RBPJ_uc003gsa.2_Missense_Mutation_p.P12S|RBPJ_uc003gsb.2_Missense_Mutation_p.P13S	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	26					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TGGTGAGCGGCCTCCACCTAA	0.279000														43			10		0	0	1	0	0
PAFAH1B2	5049	broad.mit.edu	37	11	117038270	117038270	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:117038270C>T	uc001pqe.2	+	5	687	c.545C>T	c.(544-546)tCg>tTg	p.S182L	PAFAH1B2_uc021qqv.1_Intron|PAFAH1B2_uc009yzn.3_Intron|PAFAH1B2_uc009yzm.3_Intron|PAFAH1B2_uc001pqf.3_Non-coding_Transcript|PAFAH1B2_uc009yzl.2_Intron|PAFAH1B2_uc009yzk.2_Intron	NM_002572	NP_002563	P68402	PA1B2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa) (PAFAH1B2), transcript variant 1, mRNA.	182					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		TTTGTGCACTCGGACGGTGCC	0.537000			T	IGH@	MLCLS									55			8		0	0	1	0	0
UPK1B	7348	broad.mit.edu	37	3	118909934	118909934	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:118909934G>A	uc003ecc.3	+	4	540	c.451G>A	c.(451-453)Gac>Aac	p.D151N	UPK1B_uc011bix.2_Missense_Mutation_p.D71N|UPK1B_uc003ecd.3_Missense_Mutation_p.D143N	NM_006952	NP_008883	O75841	UPK1B_HUMAN	Homo sapiens uroplakin 1B (UPK1B), mRNA.	151					epithelial cell differentiation	integral to membrane	structural molecule activity	p.W150L(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CAAAACCTGGGACAGGCTCAT	0.493000														177			79		0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73957010	73957010	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:73957010G>A	uc003hgp.3	-	28	6452	c.6335C>T	c.(6334-6336)cCg>cTg	p.P2112L	ANKRD17_uc003hgo.3_Missense_Mutation_p.P1999L|ANKRD17_uc003hgq.3_Missense_Mutation_p.P1861L|ANKRD17_uc003hgr.3_Missense_Mutation_p.P2111L	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	2112					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACAGATCCCGGAGGTTGTTG	0.483000														112			60		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48620047	48620047	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48620047G>A	uc003ctz.2	-	43	4559	c.4558C>T	c.(4558-4560)Cct>Tct	p.P1520S		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1520	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCACTTCAGGACCCTTGGCT	0.602000														54			15		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17415923	17415923	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17415923C>T	uc001mnc.3	-	36	4561	c.4435G>A	c.(4435-4437)Gag>Aag	p.E1479K		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1479	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTGAAATTCTCCCCGCCTTCT	0.562000														70			26		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39050237	39050237	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:39050237G>T	uc002rrf.3	-	16	3288	c.3189C>A	c.(3187-3189)ccC>ccA	p.P1063P	DHX57_uc002rrd.4_Silent_p.P447P|DHX57_uc002rre.3_Silent_p.P496P	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	1063							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TCACATCCACGGGCAGAGAGG	0.463000														76			24		1.10923e-09	1.11304e-09	1	1	0
PON1	5444	broad.mit.edu	37	7	94993239	94993239	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94993239C>T	uc003unt.3	-	5	656	c.631G>A	c.(631-633)Gag>Aag	p.E211K	PON1_uc011kih.2_Intron|PON1_uc011kii.2_Missense_Mutation_p.E259K	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	212					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	ACTTTAACCTCCCTTGGGCTG	0.438000														196			79		0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121107038	121107038	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:121107038C>T	uc002tmn.2	+	1	858	c.812C>T	c.(811-813)tCg>tTg	p.S271L		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	271					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GGCGAAGAGTCGCACCGGCCC	0.662000														94			17		0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144802954	144802954	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144802954C>T	uc003yzj.3	+	8	902	c.861C>T	c.(859-861)ttC>ttT	p.F287F		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	287	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	p.F306F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCTGGTGTTCGCCCCGGACA	0.672000														31			5		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73905028	73905028	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:73905028C>T	uc011dyh.2	+	14	3094	c.2747C>T	c.(2746-2748)gCc>gTc	p.A916V	KCNQ5_uc011dyi.2_Missense_Mutation_p.A907V|KCNQ5_uc010kat.3_Missense_Mutation_p.A888V|KCNQ5_uc003pgk.3_Missense_Mutation_p.A897V|KCNQ5_uc011dyj.2_Missense_Mutation_p.A787V|KCNQ5_uc011dyk.2_Missense_Mutation_p.A647V	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	897					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AGGGAAGCTGCCTTTGCATCA	0.498000														144			11		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55955574	55955574	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:55955574C>T	uc003has.3	-	24	3673	c.3371G>A	c.(3370-3372)aGa>aAa	p.R1124K	KDR_uc003hat.1_Missense_Mutation_p.R1124K	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1124	Protein kinase.				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			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)	GGCCCTCATTCTAGTTCCTTC	0.398000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				44			21		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584837	7584837	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:7584837G>A	uc003mxp.1	+	23	7621	c.7342G>A	c.(7342-7344)Gaa>Aaa	p.E2448K	DSP_uc003mxq.1_Missense_Mutation_p.E1849K|DSP_uc021yle.1_Missense_Mutation_p.E2005K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2448	Globular 2.				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)		GCCTCTGAAAGAAAAGAAGAA	0.403000														87			38		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96025959	96025959	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:96025959C>T	uc004ati.1	+	13	3522	c.3522C>T	c.(3520-3522)tcC>tcT	p.S1174S	WNK2_uc011lud.1_Silent_p.S1174S|WNK2_uc004atj.3_Silent_p.S1174S|WNK2_uc004atk.3_Silent_p.S811S	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1174					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ACCGCAGGTCCACGCGTGCGC	0.687000														9			3		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156727806	156727807	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156727806_156727807CC>TT	uc021ygm.1	+	5	606_607	c.468_469CC>TT	c.(466-471)tacctc>taTTtc	p.L157F	CYFIP2_uc011ddn.2_Missense_Mutation_p.L132F|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Missense_Mutation_p.L157F|CYFIP2_uc021ygo.1_Missense_Mutation_p.L157F|CYFIP2_uc003lwt.3_Missense_Mutation_p.L36F|CYFIP2_uc011ddp.2_Intron	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	158					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGAGGCCTACCTCCTGACCCT	0.569000														25			13		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52495482	52495482	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:52495482G>A	uc001wzo.3	-	10	2722	c.2488C>T	c.(2488-2490)Cgg>Tgg	p.R830W	NID2_uc010tqs.2_Missense_Mutation_p.R830W|NID2_uc010tqt.1_Missense_Mutation_p.R830W|NID2_uc001wzp.3_Missense_Mutation_p.R830W	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	830	EGF-like 3; calcium-binding (Potential).		R -> Q (in dbSNP:rs7144523).			basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TAACCACTCCGGCACTCACAC	0.443000														38			23		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878979	24878979	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:24878979C>T	uc001wpf.4	+	3	2297	c.1979C>T	c.(1978-1980)tCc>tTc	p.S660F		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	660					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTGCAGCTTCCAAAGCACCT	0.567000														22			4		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6553068	6553068	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:6553068G>A	uc001iji.1	-	1	390	c.306C>T	c.(304-306)gtC>gtT	p.V102V	PRKCQ_uc001ijj.2_Silent_p.V69V|PRKCQ_uc009xim.2_Silent_p.V69V|PRKCQ_uc009xin.2_Silent_p.V33V|PRKCQ_uc010qax.2_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	69	C2.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TGATCTGCATGACTCTTCCCT	0.493000														110			52		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231201	7231201	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:7231201G>A	uc010wzk.2	+	0	65	c.65G>A	c.(64-66)gGg>gAg	p.G22E		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	22										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTGTTCACGGGGAGGAGACAG	0.617000														79			10		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51400016	51400016	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:51400016C>T	uc011bds.2	+	48	5227	c.5204C>T	c.(5203-5205)tCg>tTg	p.S1735L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1735	Ser-rich.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.L1734L(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTTCTGTCCTCGTCCCAGGCA	0.562000														47			17		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186459360	186459360	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:186459360G>A	uc011bsa.2	+	9	1409	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	KNG1_uc003fqr.3_Missense_Mutation_p.R392Q|KNG1_uc021xil.1_Missense_Mutation_p.R356Q	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	392					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CGATCATCACGAATAGGGGAA	0.403000														105			18		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179587780	179587780	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:179587780G>A	uc010pnp.2	+	4	1396	c.878G>A	c.(877-879)gGa>gAa	p.G293E	TDRD5_uc021pfm.1_Missense_Mutation_p.G293E|TDRD5_uc001gnf.2_Missense_Mutation_p.G293E|TDRD5_uc021pfn.1_Missense_Mutation_p.G293E|TDRD5_uc001gnh.2_5'UTR	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	293					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GGACCTGGAGGAACTATCAGT	0.313000														83			30		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94044314	94044314	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94044314G>A	uc001ybv.1	+	14	1890	c.1807G>A	c.(1807-1809)Gga>Aga	p.G603R	UNC79_uc001ybs.1_Missense_Mutation_p.G603R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	780						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						CAAGAATTTTGGACACCCAGG	0.423000														122			57		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34698120	34698120	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:34698120T>A	uc003teh.1	+	0	224	c.96T>A	c.(94-96)ttT>ttA	p.F32L	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.F32L|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.F32L|NPSR1_uc003tei.1_Missense_Mutation_p.F32L|NPSR1_uc010kww.1_Missense_Mutation_p.F32L|NPSR1_uc011kar.1_Missense_Mutation_p.F32L	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	32						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.F32C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CAGTGACTTTTACTGAAGTGG	0.498000														71			20		0	0	1	0	0
POLR2E	5434	broad.mit.edu	37	19	1090119	1090119	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:1090119G>A	uc002lre.4	-	4	532	c.455C>T	c.(454-456)aCc>aTc	p.T152I	POLR2E_uc010xgf.2_Non-coding_Transcript	NM_002695	NP_002686	P19388	RPAB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide E, 25kDa (POLR2E), mRNA.	152					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CTCCTCCTTGGTCATGACGAC	0.662000														35			11		0	0	1	0	0
CLDN8	9073	broad.mit.edu	37	21	31588018	31588019	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:31588018_31588019CC>TT	uc002ynu.2	-	0	451_452	c.225_226GG>AA	c.(223-228)ccggac>ccAAac	p.D76N		NM_199328	NP_955360	P56748	CLD8_HUMAN	Homo sapiens claudin 8 (CLDN8), mRNA.	76					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						GCCTGTAGGTCCGGAGAAAGAG	0.510000														72			33		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125148802	125148802	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:125148802G>A	uc004bmg.1	+	8	1222	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	PTGS1_uc011lys.1_Missense_Mutation_p.E338K|PTGS1_uc010mwb.1_Missense_Mutation_p.E254K|PTGS1_uc004bmf.1_Missense_Mutation_p.E363K|PTGS1_uc004bmh.1_Missense_Mutation_p.E254K|PTGS1_uc011lyt.1_Missense_Mutation_p.E254K	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	363					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	ATTTGACCCAGAGCTGCTGTT	0.537000														142			40		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754498	49754498	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:49754498G>A	uc003ozu.3	-	0	556	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	135					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTTCCAGAGGGATCTTGGCCC	0.507000														109			7		0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149361299	149361299	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149361299G>A	uc003lrh.3	+	2	2411	c.2143G>A	c.(2143-2145)Gcg>Acg	p.A715T		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	715	STAS.		A -> V (in AO2).			integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGTGTATGAAGCGATGGCTTT	0.403000														94			19		0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52946817	52946817	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52946817C>T	uc001sao.3	-	0	115	c.45G>A	c.(43-45)ggG>ggA	p.G15G		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	15	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CACTGAAGCCCCCCTTGGCGG	0.617000														98			40		0	0	1	0	0
TNFSF15	9966	broad.mit.edu	37	9	117552834	117552834	+	Silent	SNP	G	A	A	rs142354033		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117552834G>A	uc004bjh.3	-	3	770	c.654C>T	c.(652-654)ttC>ttT	p.F218F	TNFSF15_uc004bjg.3_Silent_p.F159F	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	218					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						CTTGCAAGGAGAACATGGCTC	0.488000														82			16		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227895207	227895207	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:227895207G>A	uc021vxr.1	-	39	4026	c.3925C>T	c.(3925-3927)Cca>Tca	p.P1309S	COL4A4_uc021vxs.1_Missense_Mutation_p.P1309S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1309	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTGTATCCTGGAGGGCCTGGT	0.537000														109			33		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27169628	27169628	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:27169628G>A	uc011lno.2	+	4	1070	c.628_splice	c.e4+1	p.R210_splice	TEK_uc010mjc.1_Splice_Site_p.R63_splice|TEK_uc011lnn.1_Splice_Site_p.R210_splice|TEK_uc003zqi.4_Splice_Site_p.R210_splice|TEK_uc011lnp.2_Splice_Site_p.R106_splice|TEK_uc003zqj.1_Splice_Site_p.R187_splice	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	210	EGF-like 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ATAGTCCGGAGTAAGTGATGG	0.478000														59			28		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126241329	126241329	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:126241329G>A	uc003ifj.4	+	0	3763	c.3763G>A	c.(3763-3765)Gaa>Aaa	p.E1255K		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1255	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGAAATGAAGAAAGACAGTT	0.373000														49			11		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56139555	56139555	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:56139555C>T	uc002xyn.4	+	7	1367	c.1204C>T	c.(1204-1206)Ccc>Tcc	p.P402S	PCK1_uc010zzm.2_Missense_Mutation_p.P85S	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	402					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TTGTGCCCACCCCAACTCGAG	0.592000														95			34		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56647797	56647797	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:56647797C>T	uc010dcz.2	-	25	4022	c.3904G>A	c.(3904-3906)Gca>Aca	p.A1302T	TEX14_uc002iwr.2_Missense_Mutation_p.A1296T|TEX14_uc002iws.2_Missense_Mutation_p.A1256T|TEX14_uc010dda.2_Missense_Mutation_p.A1036T	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	1302						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGTCACATGCCTTAACAAGG	0.423000														97			43		0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65185747	65185747	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:65185747G>A	uc010wqk.2	-	10	1009	c.822C>T	c.(820-822)acC>acT	p.T274T	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Silent_p.T274T	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGGATTTTTTGGTGCTGACAG	0.353000														126			46		0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43310378	43310378	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:43310378C>T	uc010dnk.3	+	3	483	c.261C>T	c.(259-261)ttC>ttT	p.F87F	SLC14A1_uc002lbi.4_Intron|SLC14A1_uc010xcn.2_Silent_p.F31F|SLC14A1_uc002lbf.4_Silent_p.F31F|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Intron|SLC14A1_uc002lbh.4_Intron|SLC14A1_uc002lbj.4_Silent_p.F87F|SLC14A1_uc002lbk.4_Silent_p.F31F|SLC14A1_uc021ujg.1_Silent_p.F31F	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	31						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GAAGGTGCTTCCCCAAAGCTC	0.488000														84			32		0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57003538	57003538	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:57003538G>A	uc002eki.2	+	3	441	c.384G>A	c.(382-384)caG>caA	p.Q128Q	CETP_uc002ekj.2_Silent_p.Q128Q	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	128					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GTATTGATCAGTCCATTGACT	0.572000														78			10		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947667	237947667	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:237947667G>A	uc001hyl.1	+	89	12775	c.12655G>A	c.(12655-12657)Gaa>Aaa	p.E4219K	RYR2_uc010pya.2_Missense_Mutation_p.E634K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4219					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	p.S4219I(1)		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)			AGCGAATAAGGAAGAAAGCGA	0.537000														55			13		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17774359	17774359	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17774359C>T	uc021uqk.1	-	7	583	c.541G>A	c.(541-543)Ggc>Agc	p.G181S		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	181					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCACCCCAGCCAAAATAATTC	0.537000														17			3		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29293604	29293604	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:29293604G>A	uc002rmt.2	-	0	3524	c.3524C>T	c.(3523-3525)tCg>tTg	p.S1175L		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1175					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCTCCGCTGCGAGTCTGCTCT	0.657000														58			17		0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43153697	43153697	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43153697C>T	uc003ouk.3	+	3	830	c.755C>T	c.(754-756)cCa>cTa	p.P252L	CUL9_uc003ouj.1_Missense_Mutation_p.P252L|CUL9_uc003oul.3_Missense_Mutation_p.P252L|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	252					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTACAGATCCCAGGAAAGCTG	0.507000														48			19		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60768077	60768077	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:60768077G>A	uc002jad.3	+	26	4369	c.3967G>A	c.(3967-3969)Ggc>Agc	p.G1323S	MRC2_uc002jae.3_Missense_Mutation_p.G394S|MRC2_uc002jaf.3_Missense_Mutation_p.G189S	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	1323	C-type lectin 8.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GAGCTATGAGGGCCAGAGTCG	0.612000														48			18		0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64746713	64746713	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:64746713G>A	uc021qzu.1	-	1	376	c.376C>T	c.(376-378)Cta>Tta	p.L126L	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Silent_p.L126L	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	126										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)		AATGGAAATAGGAATTTCCTG	0.333000														49			5		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103299894	103299894	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103299894C>T	uc002tca.3	+	3	1321	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	393						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACTGGGCCTTCGTCTGCTTCA	0.507000														75			8		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10073501	10073501	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10073501C>T	uc002mmq.1	-	64	4931	c.4845G>A	c.(4843-4845)ggG>ggA	p.G1615G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1615	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.R1614G(1)		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)			TCACCTTCTTCCCTCGACGGA	0.552000														15			11		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18715720	18715720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:18715720C>T	uc001rdt.3	+	25	3667	c.3551C>T	c.(3550-3552)cCt>cTt	p.P1184L	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.P1225L|PIK3C2G_uc010sic.2_Missense_Mutation_p.P1003L	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1184					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GCCATAAGCCCTGCCAAATCT	0.393000														14			4		0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46318965	46318965	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:46318965G>A	uc010haa.2	-	3	960	c.833C>T	c.(832-834)tCg>tTg	p.S278L	WNT7B_uc003bgo.2_Missense_Mutation_p.S274L	NM_058238	NP_478679	P56706	WNT7B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7B (WNT7B), mRNA.	274					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GTAGTTGGGCGACTTCTCAAT	0.667000														67			39		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24537774	24537774	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:24537774C>T	uc003jgr.2	-	2	747	c.241G>A	c.(241-243)Gac>Aac	p.D81N	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	81	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		TTATCTTGGTCTGAATGTAGC	0.368000										HNSCC(23;0.051)				50			11		0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36521282	36521282	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:36521282C>T	uc002hqa.3	+	3	1171	c.1050C>T	c.(1048-1050)ccC>ccT	p.P350P	SOCS7_uc010cvl.3_Intron|SOCS7_uc002hqb.3_Non-coding_Transcript	NM_014598	NP_055413	O14512	SOCS7_HUMAN	Homo sapiens suppressor of cytokine signaling 7 (SOCS7), mRNA.	350	Mediates interaction with SORBS3.|Poly-Pro.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	SH3 domain binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					CTCCTCCACCCCATGCCCCAG	0.493000														20			13		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2444192	2444192	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:2444192C>T	uc010qxl.2	-	0	84	c.75G>A	c.(73-75)agG>agA	p.R25R	TRPM5_uc001lwm.4_Silent_p.R25R|TRPM5_uc009ydn.3_Silent_p.R25R	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	25						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGACCTCGCCCCTGTGCAAGC	0.652000														66			7		0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433090	55433090	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55433090G>A	uc010rik.2	+	0	448	c.448G>A	c.(448-450)Gga>Aga	p.G150R		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTGGGTGGGGGGATTTATGCA	0.468000														94			21		0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21542995	21542995	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21542995C>T	uc001vzp.3	+	2	1135	c.1106C>T	c.(1105-1107)cCt>cTt	p.P369L	ARHGEF40_uc001vzn.1_Missense_Mutation_p.P369L|ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_5'UTR	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	369	Gly-rich.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GAAGGACCACCTGGTACCCCT	0.642000														51			10		0	0	1	0	0
STARD3NL	83930	broad.mit.edu	37	7	38247193	38247193	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:38247193C>T	uc003tfr.3	+	1	361	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S		NM_032016	NP_114405	O95772	MENTO_HUMAN	Homo sapiens STARD3 N-terminal like (STARD3NL), mRNA.	30						integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						TTCCATCAACCCCACACAACT	0.507000														87			30		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202161	56202161	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:56202161G>A	uc002lhj.4	-	4	5472	c.5258C>T	c.(5257-5259)gCc>gTc	p.A1753V	ALPK2_uc002lhk.1_Missense_Mutation_p.A1084V	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1753							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTTAAGAAAGGCTGAGTTCTT	0.408000														119			45		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57587458	57587458	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57587458C>T	uc001snd.3	+	46	8260	c.7794C>T	c.(7792-7794)atC>atT	p.I2598I	MIR1228_uc021qzh.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2598	LDL-receptor class A 12.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGACGAGATCCCTTGCAACA	0.612000														52			10		0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48538680	48538680	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:48538680C>T	uc010wmm.1	+	3	581	c.477C>T	c.(475-477)tcC>tcT	p.S159S	ACSF2_uc002iqu.2_Silent_p.S134S|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmn.1_Silent_p.S134S|ACSF2_uc010wmo.1_Intron	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	134					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GACCTAACTCCTATGCATGGG	0.587000														23			12		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79382659	79382659	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:79382659C>T	uc002beq.3	-	0	557	c.182G>A	c.(181-183)cGg>cAg	p.R61Q	RASGRF1_uc002bep.3_Missense_Mutation_p.R61Q|RASGRF1_uc002ber.4_Missense_Mutation_p.R61Q	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	61	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCCCGAGGGCCGCGAGCTCGA	0.637000														52			49		0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687402	8687402	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:8687402G>A	uc001quo.1	-	5	657	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	164	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					CTACATCCCAGAAGCTGAAAA	0.408000														53			20		0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28194205	28194205	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:28194205G>A	uc003adj.3	-	0	3282	c.2327C>T	c.(2326-2328)tCt>tTt	p.S776F		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	776							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCCGCCACCAGAGCTGCCACC	0.736000			T	ETV6	"""AML, meningioma"""									8			5		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256521	24256521	+	Silent	SNP	G	A	A	rs141164035		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:24256521G>A	uc003xdz.2	+	8	1117	c.897G>A	c.(895-897)ggG>ggA	p.G299G	ADAMDEC1_uc010lub.2_Silent_p.G220G|ADAMDEC1_uc011lab.1_Silent_p.G220G	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	299	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.G299G(2)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CTAACCTGGGGAAAAAGATCC	0.512000														36			17		0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32158230	32158230	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32158230G>A	uc001btk.1	-	14	1492	c.1127C>T	c.(1126-1128)cCg>cTg	p.P376L	COL16A1_uc001btj.1_Missense_Mutation_p.P205L|COL16A1_uc001btl.4_Missense_Mutation_p.P376L	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	376	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTCTCCCTTCGGGCCTTCTGC	0.647000														55			15		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82785996	82785996	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:82785996T>C	uc003kii.3	+	2	506	c.150T>C	c.(148-150)ccT>ccC	p.P50P	VCAN_uc003kij.3_Silent_p.P50P|VCAN_uc010jau.2_Silent_p.P50P|VCAN_uc003kik.3_Silent_p.P50P|VCAN_uc003kih.4_Silent_p.P50P	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	50	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAACGATGCCTACTTTGCCAC	0.438000														93			55		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084665	9084665	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9084665C>T	uc002mkp.3	-	0	7354	c.7150G>A	c.(7150-7152)Gat>Aat	p.D2384N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2384	Ser-rich.|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						TTAGTGACATCCATAGTTGAA	0.473000														27			16		0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149323835	149323835	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149323835G>T	uc003lrg.4	-	0	522	c.402C>A	c.(400-402)ttC>ttA	p.F134L	PDE6A_uc021yfs.1_Missense_Mutation_p.F134L	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	134	GAF 1.				GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.V133I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGTCCAAAGGGAAGACGATCT	0.567000														109			37		6.53348e-20	6.57006e-20	1	1	0
SCIN	85477	broad.mit.edu	37	7	12683868	12683868	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:12683868G>A	uc003ssn.4	+	11	1897	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	SCIN_uc010ktt.3_Intron|SCIN_uc003sso.4_Missense_Mutation_p.E316K	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	563	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	p.E563E(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCAGGAGGAGGAGAAAGGAGC	0.473000														13			5		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7762923	7762923	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:7762923G>A	uc001ijs.3	+	6	897	c.735G>A	c.(733-735)caG>caA	p.Q245Q		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	245					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.Q245Q(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAGGACAACAGAAGGTACCCT	0.502000														95			29		0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617532	54617532	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:54617532G>A	uc022adk.1	+	3	708	c.303G>A	c.(301-303)gtG>gtA	p.V101V	VSTM2A_uc010kzf.3_Silent_p.V101V	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	101	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TTCAGACAGTGAAAGTCCAAG	0.378000														22			7		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348411	140348411	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140348411T>C	uc003lii.3	+	0	2665	c.2060T>C	c.(2059-2061)aTc>aCc	p.I687T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.I687T	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	687	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)			GTTTCCAAAATCCTCCCTGAC	0.443000														61			21		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140740411	140740411	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140740411G>A	uc003ljs.2	+	0	709	c.709G>A	c.(709-711)Gat>Aat	p.D237N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.D237N	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	237	Cadherin 2.				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)			GGATGCCAACGATAACCCTCC	0.567000														61			24		0	0	1	0	0
AV4S1	0	broad.mit.edu	37	14	22671253	22671253	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22671253C>T	uc021rpv.1	+	1	308	c.273C>T	c.(271-273)atC>atT	p.I91I	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_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc010ajm.2_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 320.																		ACTACTGCATCCTGAGAGACC	0.527000														35			4		0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18767566	18767566	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:18767566T>G	uc010exr.3	-	2	324	c.212A>C	c.(211-213)aAg>aCg	p.K71T	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.K131T|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.K71T|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.K131T|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.K114T|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.K148T|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.K131T|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.K71T|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_5'Flank	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	131					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										GGATGGAGCCTTGGTGGATGG	0.468000														89			30		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099642	168099642	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:168099642C>T	uc002udx.3	+	8	1829	c.1740C>T	c.(1738-1740)atC>atT	p.I580I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.I405I|XIRP2_uc010fpq.3_Silent_p.I358I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	405					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTAGATGGATCTTTGAGAATC	0.408000														65			20		0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100687	93100687	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:93100687G>A	uc001tch.2	+	1	731	c.280G>A	c.(280-282)Gat>Aat	p.D94N	C12orf74_uc001tci.3_Missense_Mutation_p.D94N|C12orf74_uc021rbt.1_Missense_Mutation_p.D94N	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	94										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						AAGCCCAAAGGATTCTTCACA	0.572000														56			24		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429349	48429349	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:48429349C>T	uc001jfb.3	-	1	965	c.537G>A	c.(535-537)caG>caA	p.Q179Q	GDF10_uc009xnp.3_Silent_p.Q178Q|GDF10_uc009xnq.2_Silent_p.Q179Q	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	179					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TGGCCGTGTTCTGCGAGAGGC	0.721000														28			4		0	0	1	0	0
PSMB11	122706	broad.mit.edu	37	14	23511881	23511881	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23511881C>T	uc010ake.1	+	0	506	c.447C>T	c.(445-447)gcC>gcT	p.A149A		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 11 (PSMB11), mRNA.	149					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TGGCCACTGCCCTCTGCGGCT	0.617000														56			33		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14797324	14797324	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:14797324C>T	uc003ssz.3	-	1	290	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	DGKB_uc011jxt.2_Missense_Mutation_p.E35K|DGKB_uc003sta.3_Missense_Mutation_p.E35K|DGKB_uc011jxu.2_Missense_Mutation_p.E35K|DGKB_uc011jxv.1_Missense_Mutation_p.E35K	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	35					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|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CCATGGAATTCTTCAAGAACA	0.328000														51			14		0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73662134	73662134	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:73662134C>T	uc001ouo.3	+	0	771	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	7	J.				apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					GATTATTACTCTGTGCTCGGG	0.587000														26			15		0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84811201	84811201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:84811201C>T	uc010fgb.3	+	14	2445	c.2308C>T	c.(2308-2310)Cct>Tct	p.P770S	DNAH6_uc002soo.3_Missense_Mutation_p.P349S|DNAH6_uc002sop.3_Missense_Mutation_p.P349S	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	770	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GCCCACACCTCCTGAAGACTT	0.398000														133			36		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107743504	107743504	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107743504G>A	uc010ljo.1	-	9	1249	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S	LAMB4_uc003vey.2_Missense_Mutation_p.P389S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	389	Laminin EGF-like 2.				cell adhesion	basement membrane		p.P389S(4)|p.P389P(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACGCGTAGGGATCTGAGATG	0.597000														24			9		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155161724	155161724	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:155161724C>T	uc003inw.2	-	22	5959	c.5959G>A	c.(5959-5961)Gat>Aat	p.D1987N		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1987	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGTGGATTATCATTGACATCC	0.393000														45			20		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74285296	74285296	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:74285296C>T	uc003hgs.4	+	12	1798	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	ALB_uc011cbe.2_Silent_p.F254F|ALB_uc003hgw.4_Silent_p.F383F|ALB_uc011cbf.2_Silent_p.F465F	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	575	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGGATGATTTCGCAGCTTTTG	0.413000														75			29		0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128753978	128753978	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:128753978G>A	uc010fmd.2	-	10	1511	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F	SAP130_uc002tpn.2_Missense_Mutation_p.S221F|SAP130_uc002tpp.2_Missense_Mutation_p.S460F|SAP130_uc002tpq.1_Missense_Mutation_p.S433F	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	460					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCGATGTCCGGAGATGGGAAT	0.552000														104			9		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824584	74824584	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:74824584G>A	uc021rwl.1	+	0	1098	c.1098G>A	c.(1096-1098)agG>agA	p.R366R	VRTN_uc001xpw.4_Silent_p.R366R	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	366					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						TGCCCCCCAGGGAGGTGCTGG	0.652000														35			20		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428860	57428860	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:57428860G>A	uc002xzw.3	+	0	825	c.540G>A	c.(538-540)caG>caA	p.Q180Q	GNAS-AS1_uc002xzs.2_5'Flank|GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TTCTCTTACAGGTCCCAGACC	0.632000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				13			8		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74489273	74489273	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74489273C>T	uc002sko.1	-	5	804	c.802G>A	c.(802-804)Gga>Aga	p.G268R	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.G268R|SLC4A5_uc010ffc.1_Missense_Mutation_p.G268R|SLC4A5_uc002skp.1_Missense_Mutation_p.G204R|SLC4A5_uc002sks.1_Missense_Mutation_p.G268R	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	268						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACAGACGTCCGTAATTTGCA	0.597000														42			7		0	0	1	0	0
TRDN	10345	broad.mit.edu	37	6	123687318	123687318	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:123687318C>T	uc003pzj.2	-	19	1601	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	TRDN_uc003pzk.2_Missense_Mutation_p.R429Q|TRDN_uc010kem.2_5'UTR	NM_006073	NP_006064	Q13061	TRDN_HUMAN	Homo sapiens triadin (TRDN), transcript variant 1, mRNA.	428					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	p.R428*(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CTCTTTGGCTCGTTCAGTTTC	0.308000														14			8		0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58538273	58538273	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:58538273C>T	uc002enm.3	+	5	756	c.415C>T	c.(415-417)Ccc>Tcc	p.P139S	NDRG4_uc002enk.3_Missense_Mutation_p.P119S|NDRG4_uc010vif.2_Missense_Mutation_p.P119S|NDRG4_uc002eno.3_Missense_Mutation_p.P87S|NDRG4_uc010cdk.3_Missense_Mutation_p.P105S|NDRG4_uc010vig.2_Missense_Mutation_p.P117S|NDRG4_uc010vih.2_Missense_Mutation_p.P32S|NDRG4_uc010vii.2_Missense_Mutation_p.P105S|NDRG4_uc002enp.3_Missense_Mutation_p.P87S|NDRG4_uc002enq.1_5'Flank	NM_001130487	NP_075061	Q9ULP0	NDRG4_HUMAN	Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA.	87					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GTACCAGTTCCCCTCCATGGA	0.677000														164			66		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20565171	20565172	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20565171_20565172CC>TT	uc002dhj.4	-	5	877_878	c.667_668GG>AA	c.(667-669)ggg>AAg	p.G223K	ACSM2B_uc002dhk.4_Missense_Mutation_p.G223K|ACSM2B_uc010bwf.1_Missense_Mutation_p.G223K	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	223					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ACCACTGGTCCCACTAGTGAAG	0.510000														89			11		0	0	1	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60027228	60027228	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:60027228G>A	uc002lin.3	+	5	600	c.562G>A	c.(562-564)Gag>Aag	p.E188K	TNFRSF11A_uc010dpv.3_Missense_Mutation_p.E188K	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	188					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	p.T187A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TCATGGGACAGAGAAATCCGA	0.433000														70			27		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511239	169511239	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:169511239C>T	uc001ggg.1	-	12	3234	c.3089G>A	c.(3088-3090)cGa>cAa	p.R1030Q		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1030	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTCTTTTTTCGTGTCTTAAT	0.408000														243			114		0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156154	146156154	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:146156154G>A	uc003zet.3	-	3	2206	c.2019C>T	c.(2017-2019)atC>atT	p.I673I	ZNF16_uc003zeu.3_Silent_p.I673I	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		ACTGGTGTTTGATCAACTTTG	0.527000														166			35		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6919588	6919588	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6919588G>T	uc002mfw.3	+	12	1488	c.1450G>T	c.(1450-1452)Gtg>Ttg	p.V484L	EMR1_uc010dvc.3_Missense_Mutation_p.V484L|EMR1_uc010dvb.3_Missense_Mutation_p.V432L|EMR1_uc010xji.2_Missense_Mutation_p.V343L|EMR1_uc010xjj.2_Missense_Mutation_p.V307L	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	484	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.F483I(1)		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)					TGTCTCCTTTGTGGGCATGGA	0.453000														101			55		7.41606e-26	7.46102e-26	1	1	0
ZNF121	7675	broad.mit.edu	37	19	9677162	9677162	+	Silent	SNP	G	A	A	rs147272207		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9677162G>A	uc010xkp.1	-	3	859	c.627C>T	c.(625-627)ttC>ttT	p.F209F	ZNF121_uc010dwt.2_Silent_p.F209F|ZNF121_uc010xkq.1_Silent_p.F209F	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	Homo sapiens zinc finger protein 121 (ZNF121), mRNA.	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						AGCGCCCAGCGAAGGCTCTTC	0.418000														60			29		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040467	103040467	+	Silent	SNP	G	A	A	rs11465694		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:103040467G>A	uc002tbx.3	+	3	751	c.267G>A	c.(265-267)tcG>tcA	p.S89S	IL18RAP_uc010fiz.3_Intron	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	89					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AACAACCTTCGAATGGAGATC	0.458000														52			22		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21235111	21235111	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21235111G>A	uc002red.3	-	25	4757	c.4629C>T	c.(4627-4629)tcC>tcT	p.S1543S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1543					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGAGGTGAGGGAGAGGGTTC	0.468000														78			24		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637427	248637427	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248637427C>T	uc001iel.1	+	0	776	c.776C>T	c.(775-777)gCt>gTt	p.A259V		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			CTCTTCGGTGCTTCCTTCTAC	0.552000														353			102		0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169939973	169939973	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:169939973C>T	uc010zdc.2	+	2	740	c.628C>T	c.(628-630)Cct>Tct	p.P210S	DHRS9_uc002uep.3_Missense_Mutation_p.P150S|DHRS9_uc002ueq.3_Missense_Mutation_p.P150S|DHRS9_uc010zdd.2_Missense_Mutation_p.P150S|DHRS9_uc010zde.2_Missense_Mutation_p.P150S	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	150					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AAATATGCTTCCTTTGGTCAA	0.483000														115			39		0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46733199	46733199	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:46733199G>A	uc001cpl.2	+	8	1671	c.960G>A	c.(958-960)cgG>cgA	p.R320R	RAD54L_uc009vye.2_Silent_p.R320R	NM_003579	NP_003570	Q92698	RAD54_HUMAN	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.	320	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity	p.R319W(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCAGCCGGCGGGTGCTCATCT	0.483000								Direct reversal of damage;Homologous recombination						64			35		0	0	1	0	0
PBX4	80714	broad.mit.edu	37	19	19681593	19681593	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19681593G>A	uc002nmy.3	-	2	530	c.243C>T	c.(241-243)ctC>ctT	p.L81L	PBX4_uc010xra.2_5'UTR|PBX4_uc010xqz.2_Non-coding_Transcript	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 4 (PBX4), transcript variant 1, mRNA.	81							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CCAGCCTCAGGAGCTGGGCGT	0.572000														70			32		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107013381	107013381	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:107013381C>T	uc021ser.1	-	218		c.8495G>A								Parts of antibodies, mostly variable regions.																		GAAAACCCAGCTAAGCCCAAA	0.493000														200			36		0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57013143	57013143	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:57013143C>T	uc003pdm.1	+	9	2484	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C	ZNF451_uc003pdl.3_Missense_Mutation_p.R754C|ZNF451_uc003pdn.1_Missense_Mutation_p.R754C|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.R754C	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	754					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R754H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACTGTGGTTTCGCTGCAGTTT	0.413000														33			6		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767302	105767302	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:105767302C>T	uc004bbs.2	+	4	459	c.389C>T	c.(388-390)tCg>tTg	p.S130L		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	130	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ACAACAGATTCGGAATCAGAA	0.318000														38			17		0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19576956	19576956	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:19576956C>T	uc003zoa.2	-	4	1347	c.1194G>A	c.(1192-1194)gaG>gaA	p.E398E	SLC24A2_uc003zob.2_Silent_p.E381E	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	398					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GCCTCTCGTTCTCATCCACAT	0.522000														77			50		0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149578866	149578866	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149578866C>T	uc003lrr.3	+	4	1031	c.660C>T	c.(658-660)tgC>tgT	p.C220C		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	220						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TCTGCCTCTGCCTGCTGCTGG	0.637000														68			17		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531888	92531888	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:92531888G>A	uc001pdj.4	+	8	5726	c.5709G>A	c.(5707-5709)ctG>ctA	p.L1903L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1903	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGAGGTTCTGAAAGTTAGTG	0.428000										TCGA Ovarian(4;0.039)				35			10		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123239513	123239513	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:123239513G>A	uc021pzz.1	-	17	2971	c.2324C>T	c.(2323-2325)cCt>cTt	p.P775L	FGFR2_uc021pzv.1_Missense_Mutation_p.P663L|FGFR2_uc021pzw.1_Missense_Mutation_p.P660L|FGFR2_uc021pzx.1_Intron|FGFR2_uc021pzy.1_Missense_Mutation_p.P776L|FGFR2_uc010qtl.2_Missense_Mutation_p.P659L|FGFR2_uc010qtm.2_Missense_Mutation_p.P658L|FGFR2_uc001lfg.4_Missense_Mutation_p.P383L|FGFR2_uc001lfk.1_Non-coding_Transcript	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	775					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)	CTGTTCGAGAGGTTGGCTGAG	0.453000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					136			59		0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270552	84270552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:84270552C>T	uc010voc.2	-	1	661	c.540G>A	c.(538-540)agG>agA	p.R180R	KCNG4_uc002fhu.1_Silent_p.R180R	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	180						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GTACGTCCTCCCTGTGCAGCT	0.677000														29			14		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147108974	147108974	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:147108974C>T	uc011bno.2	-	3	1084	c.898G>A	c.(898-900)Gac>Aac	p.D300N	ZIC4_uc021xfc.1_Non-coding_Transcript|ZIC4_uc021xfd.1_Non-coding_Transcript|ZIC4_uc021xfe.1_Non-coding_Transcript|ZIC4_uc003ewc.2_Missense_Mutation_p.D180N|ZIC4_uc021xff.1_Missense_Mutation_p.D288N|ZIC4_uc003ewd.2_Missense_Mutation_p.D250N|ZIC4_uc021xfg.1_Missense_Mutation_p.D44N	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	250						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TTCTTACGGTCGCTGCTGTTG	0.612000														32			8		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122667443	122667443	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122667443G>A	uc003efz.1	-	2	542	c.238C>T	c.(238-240)Cac>Tac	p.H80Y	SEMA5B_uc011bju.1_Missense_Mutation_p.H22Y|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.H80Y|SEMA5B_uc010hro.1_Missense_Mutation_p.H22Y|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	80					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CTGGAGAGGTGGGACACCAGC	0.627000														42			10		0	0	1	0	0
GLT8D2	83468	broad.mit.edu	37	12	104387256	104387256	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:104387256C>T	uc001tkh.1	-	9	1351	c.794G>A	c.(793-795)gGa>gAa	p.G265E	GLT8D2_uc001tki.1_Missense_Mutation_p.G265E	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	265						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CACCCCTCCTCCCAGGGAGCT	0.458000														41			5		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38993182	38993182	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:38993182G>A	uc002oit.3	+	47	7780	c.7650G>A	c.(7648-7650)ctG>ctA	p.L2550L	RYR1_uc002oiu.3_Silent_p.L2550L|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2550	6 X approximate repeats.		L -> V.		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGCTGGCGCTGAACCGCTACC	0.652000														25			5		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28478684	28478684	+	Missense_Mutation	SNP	G	A	A	rs143710331		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:28478684G>A	uc001zbj.3	-	28	4481	c.4375C>T	c.(4375-4377)Cat>Tat	p.H1459Y		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1459					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCACCTGCATGAACTAAAGAT	0.418000														103			35		0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205033876	205033876	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205033876G>A	uc001hbr.3	+	11	1786	c.1517G>A	c.(1516-1518)cGa>cAa	p.R506Q	CNTN2_uc001hbq.1_Missense_Mutation_p.R397Q|CNTN2_uc001hbs.3_Missense_Mutation_p.R294Q	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	506					axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTATCTGTGCGAGGTGAGGGC	0.537000														98			42		0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50398423	50398423	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50398423C>T	uc002pqv.2	-	6	1123	c.294G>A	c.(292-294)gaG>gaA	p.E98E	IL4I1_uc002pqt.1_Silent_p.E89E|IL4I1_uc021uxy.1_Silent_p.E111E|IL4I1_uc002pqu.2_Silent_p.E111E|IL4I1_uc010eno.2_Silent_p.E97E	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	89						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		TGTTATCTGCCTCCAGGATGG	0.662000														39			15		0	0	1	0	0
DEDD2	162989	broad.mit.edu	37	19	42713887	42713887	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42713887G>A	uc002osu.1	-	3	622	c.554C>T	c.(553-555)cCc>cTc	p.P185L	DEDD2_uc002osv.1_Non-coding_Transcript|DEDD2_uc002osw.1_Missense_Mutation_p.P180L|DEDD2_uc010eid.3_Non-coding_Transcript	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	Homo sapiens death effector domain containing 2 (DEDD2), mRNA.	185					RNA processing|activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				AGGTCTGGCGGGCTCTGACTG	0.672000														109			41		0	0	1	0	0
PARP16	54956	broad.mit.edu	37	15	65559098	65559098	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65559098C>T	uc002aoq.3	-	2	575	c.321G>A	c.(319-321)aaG>aaA	p.K107K	PARP16_uc002aoo.3_Silent_p.K107K|PARP16_uc002aop.3_Intron	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 16 (PARP16), mRNA.	107	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GCTTTTGGATCTTTTCAAACT	0.438000														34			6		0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798442	55798442	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55798442C>T	uc010riw.2	+	0	548	c.548C>T	c.(547-549)cCt>cTt	p.P183L		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182Q(1)|p.P183P(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GATATCCCACCTCTTCTGGCT	0.423000														300			84		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14905687	14905687	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:14905687G>A	uc003bzc.3	+	1	2688	c.2578G>A	c.(2578-2580)Gag>Aag	p.E860K	FGD5_uc011avk.2_Missense_Mutation_p.E860K	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	860					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGCCCCCAAAGAGGACCTTAC	0.547000														57			21		0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30653799	30653799	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:30653799G>A	uc001ivb.4	-	8	1755	c.383C>T	c.(382-384)tCc>tTc	p.S128F	MTPAP_uc001ivd.2_Non-coding_Transcript|DQ589067_uc001ive.1_5'Flank	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.	0					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CACCTGAAGGGAGGGGTGCTC	0.647000														13			3		0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97851872	97851872	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:97851872G>A	uc011bgt.2	+	0	331	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TGTAACCACGGAATGTTTTCT	0.408000														220			94		0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41303402	41303402	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:41303402C>T	uc001cgh.2	+	12	1893	c.1811C>T	c.(1810-1812)cCc>cTc	p.P604L	KCNQ4_uc001cgi.2_Missense_Mutation_p.P550L	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	604	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GACAAGGGGCCCTCCGACGCG	0.647000														18			7		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589616	11589616	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:11589616G>A	uc001ash.4	+	13	2940	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	934					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)		TCCACAGGAAGCTGTACTTCG	0.667000														85			41		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450887	41450887	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41450887C>T	uc002yyq.1	-	25	4890	c.4438G>A	c.(4438-4440)Gag>Aag	p.E1480K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1480	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCTCCTGCTCCTTTGAGAAC	0.572000														29			6		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632737	122632737	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:122632737G>A	uc003efz.1	-	14	2404	c.2100C>T	c.(2098-2100)ggC>ggT	p.G700G	SEMA5B_uc011bju.1_Silent_p.G642G|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.G700G|SEMA5B_uc010hro.1_Silent_p.G642G|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	700	TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGCAGATGCGGCCCCCGTGGC	0.667000														72			30		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15677785	15677785	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:15677785C>T	uc001rcv.2	+	10	2399	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	PTPRO_uc001rcw.2_Silent_p.F643F	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	643	Fibronectin type-III 7.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGGAATATTTCAACAGTCTGT	0.408000														68			27		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124745472	124745472	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124745472C>T	uc001qbc.3	+	14	2481	c.2312C>T	c.(2311-2313)cCc>cTc	p.P771L	ROBO3_uc010saq.2_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.2_5'Flank|ROBO3_uc001qbe.3_5'Flank|ROBO3_uc001qbf.1_5'Flank	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	771	Fibronectin type-III 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCCAGTGGCCCCCCACAGGGA	0.612000														26			6		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175048558	175048558	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175048558G>A	uc001gkl.1	+	2	612	c.499G>A	c.(499-501)Gag>Aag	p.E167K	TNN_uc010pmx.1_Missense_Mutation_p.E167K	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	167	EGF-like 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCCCGCCTGCGAGCGGCTGGC	0.731000														9			4		0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9730691	9730691	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:9730691C>T	uc003brz.3	+	15	1509	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	MTMR14_uc003bsa.3_Missense_Mutation_p.S453F|MTMR14_uc003bsb.3_Missense_Mutation_p.S453F|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Missense_Mutation_p.S207F|MTMR14_uc003bsc.3_Non-coding_Transcript|MTMR14_uc021wss.1_Missense_Mutation_p.S76F	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	453						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ATGGAGAGTTCCCCAGGAGCC	0.602000														72			31		0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5892017	5892017	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:5892017C>T	uc002kmx.1	-	0	87	c.46G>A	c.(46-48)Gat>Aat	p.D16N		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	16						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CGGAGTGGATCCTGCTTTCTG	0.612000														28			10		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70954694	70954694	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:70954694G>A	uc001swb.4	-	14	3565	c.3535C>T	c.(3535-3537)Ctc>Ttc	p.L1179F	PTPRB_uc010sto.2_Missense_Mutation_p.L1089F|PTPRB_uc010stp.2_Missense_Mutation_p.L1089F|PTPRB_uc001swc.4_Missense_Mutation_p.L1397F|PTPRB_uc001swa.4_Missense_Mutation_p.L1309F|PTPRB_uc001swd.4_Missense_Mutation_p.L1396F|PTPRB_uc009zrr.2_Missense_Mutation_p.L1276F	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1179	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GACCCCCTGAGATGACTCACA	0.453000														88			51		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012603	189012603	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:189012603G>A	uc011cle.1	-	7	1535	c.1313C>T	c.(1312-1314)cCa>cTa	p.P438L	TRIML2_uc003izj.1_Missense_Mutation_p.P191L|TRIML2_uc003izk.1_Missense_Mutation_p.P171L|TRIML2_uc003izl.2_Missense_Mutation_p.P363L	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	363							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)		GTCTCCATTTGGGATACAGAG	0.453000														104			17		0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246829020	246829020	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:246829020C>T	uc001ibp.3	+	10	2369	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F		NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	664					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	p.S664S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GGAGGTGGCTCCTGTATTTTG	0.428000														64			28		0	0	1	0	0
STAP2	55620	broad.mit.edu	37	19	4327185	4327185	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:4327185G>A	uc002mab.3	-	7	890	c.699C>T	c.(697-699)ttC>ttT	p.F233F	STAP2_uc002mac.3_Silent_p.F233F|STAP2_uc021unb.1_Silent_p.F233F|STAP2_uc021unc.1_Silent_p.F233F|STAP2_uc002mad.3_Silent_p.F126F	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	Homo sapiens signal transducing adaptor family member 2 (STAP2), transcript variant 2, mRNA.	233	SH2.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TATGCGACACGAAATAGTTGA	0.617000														56			8		0	0	1	0	0
STK4	6789	broad.mit.edu	37	20	43623872	43623872	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:43623872C>T	uc002xnb.3	+	5	757	c.667C>T	c.(667-669)Cct>Tct	p.P223S	STK4_uc010ggx.3_Missense_Mutation_p.P223S|STK4_uc010ggy.3_Missense_Mutation_p.P168S|STK4_uc010ggw.1_Missense_Mutation_p.P223S	NM_006282	NP_006273	Q13043	STK4_HUMAN	Homo sapiens serine/threonine kinase 4 (STK4), mRNA.	223	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				AGGAAAGCCCCCTTATGCTGA	0.448000														68			22		0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186338496	186338496	+	Missense_Mutation	SNP	C	T	T	rs145128363		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:186338496C>T	uc003fqk.4	+	6	962	c.881C>T	c.(880-882)cCc>cTc	p.P294L		NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	294					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCTGGCTCACCCCCAGACTCC	0.637000														179			39		0	0	1	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176768298	176768298	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:176768298G>A	uc003fiw.4	-	5	788	c.528C>T	c.(526-528)gcC>gcT	p.A176A	TBL1XR1_uc003fix.4_Silent_p.A176A|TBL1XR1_uc011bpz.2_Intron	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	Homo sapiens transducin (beta)-like 1 X-linked receptor 1 (TBL1XR1), mRNA.	176					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			CAGGGTTCCAGGCACAGATAA	0.363000														28			8		0	0	1	0	0
KAZALD1	81621	broad.mit.edu	37	10	102822738	102822738	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:102822738C>T	uc001ksr.3	+	1	1314	c.389C>T	c.(388-390)tCg>tTg	p.S130L	KAZALD1_uc001kss.4_Non-coding_Transcript|KAZALD1_uc001kst.1_Missense_Mutation_p.S130L	NM_030929	NP_112191	Q96I82	KAZD1_HUMAN	Homo sapiens Kazal-type serine peptidase inhibitor domain 1 (KAZALD1), mRNA.	130	Kazal-like.				cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding			endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GCCTGTCGTTCGCAGAGTCCG	0.687000														21			8		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18044404	18044404	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:18044404G>A	uc021trm.1	+	20	5697	c.5478G>A	c.(5476-5478)agG>agA	p.R1826R	MYO15A_uc021trl.1_Silent_p.R1824R	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1826	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGACCGTGAGGATCCGCAAGG	0.552000											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			11		0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103592516	103592516	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:103592516C>T	uc003hwg.3	-	8	1252	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	MANBA_uc011ces.2_Missense_Mutation_p.M327I	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	384					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GAAGAGTATTCATATTAGCAT	0.353000														35			18		0	0	1	0	0
PTHLH	5744	broad.mit.edu	37	12	28116375	28116375	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:28116375G>A	uc001rik.3	-	2	733	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	PTHLH_uc001ril.3_Missense_Mutation_p.R144C|PTHLH_uc001rim.3_Missense_Mutation_p.R144C|PTHLH_uc001rin.3_Missense_Mutation_p.R144C	NM_198966	NP_945317	P12272	PTHR_HUMAN	Homo sapiens parathyroid hormone-like hormone (PTHLH), transcript variant 4, mRNA.	144					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					CAGGCAGAGCGAGTTCGCCGT	0.552000														74			35		0	0	1	0	0
ESD	2098	broad.mit.edu	37	13	47355713	47355713	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:47355713G>A	uc001vbn.3	-	6	602	c.419C>T	c.(418-420)cCc>cTc	p.P140L	ESD_uc001vbp.1_5'UTR	NM_001984	NP_001975	P10768	ESTD_HUMAN	Homo sapiens esterase D (ESD), mRNA.	140						cytoplasmic membrane-bounded vesicle	S-formylglutathione hydrolase activity|carboxylesterase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CATCCTTTGGGGATCCACTGG	0.353000														131			43		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99319926	99319926	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:99319926C>T	uc003uru.3	-	2	314	c.211G>A	c.(211-213)Gtc>Atc	p.V71I	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.	71			V -> A (in dbSNP:rs45580339).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.V71V(1)		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)					CACCCCCAGACTTTTCTATAC	0.393000														87			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059860	9059860	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9059860C>T	uc002mkp.3	-	2	27790	c.27586G>A	c.(27586-27588)Gaa>Aaa	p.E9196K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9198	Ser-rich.|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						GAACTGGTTTCAGGTTCTGAG	0.493000														75			39		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24563606	24563606	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:24563606G>A	uc011djo.2	-	15	3072	c.2572C>T	c.(2572-2574)Cgg>Tgg	p.R858W	KIAA0319_uc011djp.2_Missense_Mutation_p.R813W|KIAA0319_uc003neh.1_Missense_Mutation_p.R858W|KIAA0319_uc011djq.1_Missense_Mutation_p.R849W|KIAA0319_uc011djr.1_Missense_Mutation_p.R858W|KIAA0319_uc010jpt.1_Missense_Mutation_p.R269W	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	858					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GAGTGGGCCCGAATCTTCTGG	0.567000														39			18		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136144	55136144	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55136144G>A	uc010rif.2	+	0	785	c.785G>A	c.(784-786)cGa>cAa	p.R262Q		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GAAGGGAAACGAAAAGCTTTC	0.438000														123			56		0	0	1	0	0
LRRC47	57470	broad.mit.edu	37	1	3703511	3703511	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3703511G>A	uc001akx.1	-	1	1007	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	Homo sapiens leucine rich repeat containing 47 (LRRC47), mRNA.	327					translation		RNA binding|phenylalanine-tRNA ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CGGACCTCGGGGCTCACTCTG	0.647000														12			4		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935870	30935870	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:30935870G>A	uc002nsu.1	+	1	1539	c.1401G>A	c.(1399-1401)ggG>ggA	p.G467G	ZNF536_uc010edd.1_Silent_p.G467G	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G467R(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGCGCTGGGGAAGCTGCTGT	0.642000														61			17		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36872640	36872640	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36872640C>T	uc003cgj.3	-	20	8550	c.8302G>A	c.(8302-8304)Gag>Aag	p.E2768K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2768					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTGTTCCTCTCCTGACACTCC	0.537000														84			44		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179737040	179737040	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179737040C>T	uc002une.2	-	13	2018	c.1900_splice	c.e13-1	p.A634_splice	CCDC141_uc002unf.1_Splice_Site_p.A113_splice	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	59							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTCTTTTGCCTGTTAAATTA	0.338000														50			18		0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205273193	205273193	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:205273193C>T	uc001hce.3	-	6	1399	c.1272G>A	c.(1270-1272)gaG>gaA	p.E424E		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	424					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCGGAGGGTCCTCCTGTACCC	0.627000														66			47		0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4834032	4834032	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:4834032C>T	uc002cxq.3	-	4	676	c.412G>A	c.(412-414)Gag>Aag	p.E138K	SEPT12_uc002cxr.3_Intron|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	138					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						AGGTACTGCTCGTATTGCTCG	0.632000														150			14		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147504348	147504348	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:147504348G>A	uc003lox.2	+	27	2760	c.2687G>A	c.(2686-2688)aGa>aAa	p.R896K	SPINK5_uc010jgr.2_Missense_Mutation_p.R877K|SPINK5_uc003low.2_Missense_Mutation_p.R896K|SPINK5_uc003loy.2_Missense_Mutation_p.R896K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	896	Kazal-like 13.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	p.K899fs*3(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAATGAAAGAAAAAAGAAA	0.303000														27			12		0	0	1	0	0
GNL3L	54552	broad.mit.edu	37	X	54578016	54578016	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:54578016C>T	uc022bxi.1	+	10	1135	c.879C>T	c.(877-879)gtC>gtT	p.V293V	GNL3L_uc004dti.3_Non-coding_Transcript|GNL3L_uc004dth.2_Silent_p.V293V	NM_001184819	NP_061940	Q9NVN8	GNL3L_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar)-like (GNL3L), transcript variant 1, mRNA.	293	G.				ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TGCAGGAGGTCTACCTGGACA	0.587000														23			6		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43680255	43680255	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43680255C>T	uc002ovu.3	-	2	607	c.476G>A	c.(475-477)aGg>aAg	p.R159K	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.R159K	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	159	Ig-like C2-type 1.				female pregnancy	extracellular region		p.P158S(1)|p.P158P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CTTATTCTCCCTGGGTTTTGA	0.493000														261			112		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196883708	196883708	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:196883708G>A	uc001gtp.3	+	7	1401	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.E421K|CFH_uc001gto.3_Missense_Mutation_p.E175K	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	780	Sushi 7.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATTGGACTACGAATGCTACGA	0.393000														64			14		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28755047	28755048	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:28755047_28755048CC>TT	uc002rmb.2	+	8	585_586	c.541_542CC>TT	c.(541-543)ccc>TTc	p.P181F	PLB1_uc010ezj.2_Missense_Mutation_p.P181F	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	181	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.P181P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TTACCTGTGCCCCTCTGCTCAA	0.480000														158			33		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13322932	13322932	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:13322932G>A	uc002mwy.3	-	42	6524	c.6288C>T	c.(6286-6288)ctC>ctT	p.L2096L	CACNA1A_uc002mwx.3_Silent_p.L802L|CACNA1A_uc010dzc.2_Silent_p.L1622L|CACNA1A_uc010xnd.2_Silent_p.L2099L|CACNA1A_uc021ups.1_Silent_p.L2096L|CACNA1A_uc010xne.2_Silent_p.L2099L|CACNA1A_uc010dze.2_Silent_p.L2096L|CACNA1A_uc021upt.1_Silent_p.L2097L|CACNA1A_uc002mwv.3_Silent_p.L613L	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	2097					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCTCTGCAGGGAGGCGGGGCA	0.667000														39			9		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	38997504	38997504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:38997504C>T	uc011aej.1	-	3	1282	c.1229G>A	c.(1228-1230)aGa>aAa	p.R410K	KCNJ6_uc002ywo.2_Missense_Mutation_p.R410K	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	410					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ATCACCATTTCTTTCTGTTTG	0.478000														207			54		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138169253	138169253	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:138169253G>A	uc002tva.1	+	12	2677	c.2677G>A	c.(2677-2679)Gat>Aat	p.D893N	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.D783N	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)		ATGTCCTTGTGATGAATTTAT	0.453000														87			48		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151134155	151134155	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:151134155C>T	uc003eyp.3	+	40	6377	c.6248C>T	c.(6247-6249)tCg>tTg	p.S2083L	MED12L_uc011bnz.2_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2083	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			cagcagTCCTCGCAGTCCCAG	0.532000														71			21		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933292	44933292	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44933292C>T	uc002oze.1	-	5	2098	c.1664G>A	c.(1663-1665)cGg>cAg	p.R555Q	ZNF229_uc010ejk.1_Missense_Mutation_p.R209Q|ZNF229_uc010ejl.1_Missense_Mutation_p.R549Q	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GTCGGAGCTCCGGCCAAAGCT	0.532000														105			14		0	0	1	0	0
FGD4	121512	broad.mit.edu	37	12	32760940	32760940	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:32760940C>T	uc010ske.2	+	7	1463	c.1379C>T	c.(1378-1380)cCt>cTt	p.P460L	FGD4_uc001rlc.3_Missense_Mutation_p.P433L|FGD4_uc001rky.3_Missense_Mutation_p.P100L|FGD4_uc001rkz.3_Missense_Mutation_p.P348L|FGD4_uc001rla.3_Missense_Mutation_p.P4L|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	348	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ATGCTAGAACCTGTTCAGCGG	0.393000														131			61		0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124519294	124519294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:124519294C>T	uc004bln.3	+	3	350	c.281C>T	c.(280-282)tCc>tTc	p.S94F	DAB2IP_uc004blo.3_5'UTR	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	122					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CACCCCAGGTCCCATCTGATG	0.667000														55			19		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37731005	37731005	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:37731005G>A	uc004aag.1	+	8	807	c.763G>A	c.(763-765)Gac>Aac	p.D255N	FRMPD1_uc004aah.1_Missense_Mutation_p.D255N|FRMPD1_uc011lqm.2_Missense_Mutation_p.D77N|FRMPD1_uc011lqn.2_Missense_Mutation_p.D124N	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	255	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGAGTCACATGACTACCGCTG	0.502000														56			17		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134886335	134886335	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:134886335C>T	uc001llw.3	+	2	369	c.369C>T	c.(367-369)ttC>ttT	p.F123F				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	505						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCTCAGGGTTCTTGGGACCTG	0.582000														18			8		0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202617958	202617958	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:202617958G>A	uc002uyo.3	-	6	2004	c.1648C>T	c.(1648-1650)Ccg>Tcg	p.P550S	ALS2_uc002uyp.4_Missense_Mutation_p.P550S|ALS2_uc002uyq.3_Missense_Mutation_p.P550S	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	550					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACACACAACGGTTGAAGCCTT	0.413000														70			34		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744643	37744643	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:37744643G>A	uc004aag.1	+	15	2658	c.2614G>A	c.(2614-2616)Gag>Aag	p.E872K	FRMPD1_uc004aah.1_Missense_Mutation_p.E872K	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	872						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTATGACAGGGAGCCCTACCT	0.592000														43			16		0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68598372	68598372	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:68598372C>T	uc010cff.3	+	4	1974	c.1682C>T	c.(1681-1683)gCc>gTc	p.A561V	ZFP90_uc002ewb.3_3'UTR|ZFP90_uc002ewc.3_3'UTR|ZFP90_uc002ewd.3_Missense_Mutation_p.A561V|ZFP90_uc002ewe.3_Missense_Mutation_p.A561V	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	561					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TGTGGGAAAGCCTTTAGTCAA	0.438000														118			29		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23239966	23239966	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:23239966G>T	uc009vqj.1	+	15	3009	c.2864G>T	c.(2863-2865)cGg>cTg	p.R955L	EPHB2_uc001bge.3_Missense_Mutation_p.R956L|EPHB2_uc001bgf.3_Missense_Mutation_p.R955L|EPHB2_uc010odu.2_Missense_Mutation_p.R897L	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	955	SAM.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GACATTCTCCGGGTTGGGGTC	0.552000														38			6		2.0095e-06	2.0134e-06	1	1	0
OR7D4	125958	broad.mit.edu	37	19	9324768	9324768	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9324768G>A	uc002mla.2	-	0	780	c.746C>T	c.(745-747)tCc>tTc	p.S249F		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ATAGAACAAGGAGACCACACA	0.517000														52			24		0	0	1	0	0
SET	6418	broad.mit.edu	37	9	131455961	131455961	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:131455961G>A	uc004bvt.4	+	5	817	c.576G>A	c.(574-576)agG>agA	p.R192R	SET_uc022bol.1_Silent_p.R170R|SET_uc004bvu.4_Silent_p.R179R|SET_uc011mbj.2_Silent_p.R168R	NM_001122821	NP_001116293	Q01105	SET_HUMAN	Homo sapiens SET nuclear oncogene (SET), transcript variant 1, mRNA.	192					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		AAGCCAGCAGGAAGAGGCAGC	0.438000			T	NUP214	AML									70			7		0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46133190	46133190	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46133190G>A	uc003oxz.1	-	2	1148	c.940C>T	c.(940-942)Caa>Taa	p.Q314*	ENPP5_uc010jzc.1_Nonsense_Mutation_p.Q314*|ENPP5_uc011dvz.1_Nonsense_Mutation_p.Q220*|ENPP5_uc003oya.1_Nonsense_Mutation_p.Q314*	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	314						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ATGATTGGTTGAATTCGACTG	0.383000														145			69		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179650730	179650730	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179650730C>T	uc021vsy.1	-	13	2440	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	TTN_uc021vsz.1_Missense_Mutation_p.E693K|TTN_uc021vta.1_Missense_Mutation_p.E693K|TTN_uc021vtb.1_Missense_Mutation_p.E693K|TTN_uc002unb.2_Missense_Mutation_p.E739K|TTN_uc010frg.1_Missense_Mutation_p.E321K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	739							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G738R(1)		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)			GAAATGCGTTCCTTATATCCG	0.552000														69			29		0	0	1	0	0
PPIA	5478	broad.mit.edu	37	7	44839450	44839450	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:44839450C>T	uc003tlw.3	+	3	422	c.339C>T	c.(337-339)ttC>ttT	p.F113F	PPIA_uc003tlx.3_Non-coding_Transcript|PPIA_uc010kyl.3_Non-coding_Transcript	NM_021130	NP_066953	P62937	PPIA_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A) (PPIA), mRNA.	113	PPIase cyclophilin-type.				RNA-dependent DNA replication|entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	CCCAGTTTTTCATCTGCACTG	0.468000														83			39		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78071053	78071053	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:78071053G>A	uc010dht.3	+	18	3062	c.3031G>A	c.(3031-3033)Gag>Aag	p.E1011K	CCDC40_uc002jxm.4_Missense_Mutation_p.E794K|CCDC40_uc002jxn.4_Missense_Mutation_p.E407K	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	1011					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGCCACCGATGAGTGCACCAA	0.572000														80			20		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075173	9075173	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9075173C>T	uc002mkp.3	-	2	12477	c.12273G>A	c.(12271-12273)atG>atA	p.M4091I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4093	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.M4091I(6)|p.G4090V(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						TAGCAAGGATCATTCCTCCAG	0.527000														61			27		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43099815	43099815	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43099815C>T	uc011dve.1	+	5	940	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	PTK7_uc003oub.1_Missense_Mutation_p.R292W|PTK7_uc003ouc.1_Missense_Mutation_p.R292W|PTK7_uc003oud.1_Missense_Mutation_p.R292W|PTK7_uc003oue.1_Missense_Mutation_p.R292W|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.3_Missense_Mutation_p.R292W	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	292	Ig-like C2-type 3.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R292W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GACCCAGGTCCGGCCACGCAA	0.617000														56			26		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166893029	166893029	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:166893029G>A	uc002udo.4	-	17	3185	c.2958C>T	c.(2956-2958)ctC>ctT	p.L986L	SCN1A_uc010fpk.3_Silent_p.L958L|SCN1A_uc021vsb.1_Silent_p.L975L	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	986			L -> F (in SMEI; complete loss of function; dbSNP:rs121918625).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGGCCAGAAAGAGATTCAGGA	0.363000														37			13		0	0	1	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84567100	84567100	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:84567100G>A	uc003pke.3	+	3	530	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	CYB5R4_uc003pkf.3_5'Flank	NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN	Homo sapiens ripply2 homolog (zebrafish) (RIPPLY2), mRNA.	127					somite rostral/caudal axis specification	nucleus		p.C126S(1)		large_intestine(2)|lung(4)|urinary_tract(1)	7						TCTGACCTGTGAAAATTAATC	0.289000														63			30		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78401191	78401191	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:78401191C>T	uc001syp.3	+	7	2046	c.1873C>T	c.(1873-1875)Ccg>Tcg	p.P625S	NAV3_uc001syo.3_Missense_Mutation_p.P625S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	625						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.P625Q(1)		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						ACATAGCCACCCGAATACCGC	0.478000										HNSCC(70;0.22)				104			33		0	0	1	0	0
ARL10	285598	broad.mit.edu	37	5	175793522	175793522	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:175793522C>T	uc003meb.3	+	1	388	c.323C>T	c.(322-324)cCc>cTc	p.P108L	ARL10_uc003mec.1_Missense_Mutation_p.P108L	NM_173664	NP_775935	Q8N8L6	ARL10_HUMAN	Homo sapiens ADP-ribosylation factor-like 10 (ARL10), mRNA.	108							GTP binding			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GGCCACATCCCCACCTGGGGC	0.637000														52			10		0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524322	37524322	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37524322C>T	uc003aqv.1	-	9	1601	c.1470G>A	c.(1468-1470)gaG>gaA	p.E490E		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	490					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCAGCACCAGCTCAGGGGGTG	0.667000														37			12		0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33639752	33639752	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:33639752C>T	uc002nui.3	+	4	693	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	205								p.F205F(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TCTCAGGCTTCGACGTGGATC	0.493000														161			61		0	0	1	0	0
CTAG2	30848	broad.mit.edu	37	X	153881735	153881735	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:153881735C>T	uc004fmi.2	-	0	119	c.55G>A	c.(55-57)Gga>Aga	p.G19R	CTAG2_uc004fmh.2_Missense_Mutation_p.G19R	NM_020994	NP_066274	O75638	CTAG2_HUMAN	Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.	19	Gly-rich.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGGGCCTCCTGGGCCATCA	0.721000														7			4		0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7802241	7802241	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:7802241G>A	uc011bwk.1	-	9	1467	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	AFAP1_uc003gkg.1_Silent_p.I398I	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	398	PH 2.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CCAAACCCGGGATCACCTCGC	0.542000														33			21		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35927567	35927567	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:35927567C>T	uc003olm.3	-	14	1766	c.1655G>A	c.(1654-1656)gGg>gAg	p.G552E	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.G134E|SLC26A8_uc003oll.3_Missense_Mutation_p.G447E|SLC26A8_uc003oln.3_Missense_Mutation_p.G552E	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	552	STAS.				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						GATTTTCACCCCAGGAATGGT	0.383000														62			29		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052500	15052501	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:15052500_15052501CC>GT	uc010xoc.2	+	0	200_201	c.200_201CC>GT	c.(199-201)tcc>tGT	p.S67C		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TCCAACCTGTCCTTTGCTGACA	0.480000														77			17		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97078439	97078439	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:97078439C>T	uc021rcc.1	+	7	1083	c.1005C>T	c.(1003-1005)gcC>gcT	p.A335A				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	335										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTCTCCAAGCCAGCAATCAAA	0.308000														105			7		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346952	89346952	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:89346952G>A	uc002fmx.1	-	8	6459	c.5998C>T	c.(5998-6000)Ctc>Ttc	p.L2000F	ANKRD11_uc002fmy.1_Missense_Mutation_p.L2000F|ANKRD11_uc002fnc.1_Missense_Mutation_p.L2000F|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.L1957F	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2000	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCAGAGTGGAGGGGGTCCGCG	0.701000														30			11		0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782979	115782979	+	Missense_Mutation	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:115782979G>T	uc003krx.4	-	19	3183	c.2474C>A	c.(2473-2475)tCc>tAc	p.S825Y	SEMA6A_uc010jck.3_Missense_Mutation_p.S808Y|SEMA6A_uc011cwe.2_Missense_Mutation_p.S187Y|SEMA6A_uc003krv.4_Missense_Mutation_p.S235Y|SEMA6A_uc003krw.4_Missense_Mutation_p.S285Y|SEMA6A_uc010jcj.3_Missense_Mutation_p.S352Y	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	808					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GTGGCTGGGGGAGGCCCGCAG	0.642000														64			26		9.04412e-07	9.06361e-07	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105414808	105414808	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:105414808G>A	uc010axc.1	-	6	7100	c.6980C>T	c.(6979-6981)tCg>tTg	p.S2327L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S2227L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2327						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCCCAAACGACAGCATCTT	0.602000														362			33		0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9225552	9225552	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9225552C>T	uc021uoi.1	-	0	888	c.888G>A	c.(886-888)gaG>gaA	p.E296E	OR7G1_uc002mks.1_Silent_p.E296E	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	296					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						CTTTCTTCATCTCCTTATTTC	0.413000														120			50		0	0	1	0	0
TM6SF1	53346	broad.mit.edu	37	15	83781639	83781639	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:83781639C>T	uc002bjp.3	+	1	292	c.183C>T	c.(181-183)gaC>gaT	p.D61D	TM6SF1_uc010bmq.3_Silent_p.D61D|TM6SF1_uc002bjq.3_Silent_p.D61D|TM6SF1_uc010bmr.3_Non-coding_Transcript	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA.	61						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CACCCCGGGACCCACTGTTCT	0.478000														143			23		0	0	1	0	0
PION	54103	broad.mit.edu	37	7	77004407	77004407	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:77004407G>A	uc003ugf.3	-	10	832	c.753C>T	c.(751-753)ccC>ccT	p.P251P	PION_uc003ugg.1_Silent_p.P36P	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	251					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATATGTCCAAGGGTACTTCAA	0.318000														40			11		0	0	1	0	0
TMEM211	255349	broad.mit.edu	37	22	25334143	25334143	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:25334143G>A	uc003abk.1	-	1	125	c.100C>T	c.(100-102)Cca>Tca	p.P34S		NM_001001663	NP_001001663	Q6ICI0	TM211_HUMAN	Homo sapiens transmembrane protein 211 (TMEM211), mRNA.	105						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CCTGGCATTGGAACACTGCTT	0.512000														77			14		0	0	1	0	0
DDX25	29118	broad.mit.edu	37	11	125780323	125780323	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:125780323G>A	uc001qcz.4	+	6	713	c.572G>A	c.(571-573)gGa>gAa	p.G191E	DDX25_uc010sbk.2_Missense_Mutation_p.G191E	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	191	Helicase ATP-binding.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.E191Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		GAGCAGATGGGAAAATTCTGT	0.483000														102			11		0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66084128	66084128	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:66084128C>T	uc001ohm.1	-	0	388	c.371G>A	c.(370-372)gGc>gAc	p.G124D		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	124	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CGGGCAGGGGCCTCCAGAGGC	0.711000														29			13		0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1078005	1078005	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1078005C>T	uc003jbu.3	-	11	1638	c.1572G>A	c.(1570-1572)acG>acA	p.T524T		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	524					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCGGTGCCCCCGTGAGGCTCT	0.692000														15			4		0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140267448	140267448	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140267448G>A	uc004cmp.2	-	4	567	c.371C>T	c.(370-372)cCa>cTa	p.P124L	EXD3_uc010ncg.1_Missense_Mutation_p.P63L|EXD3_uc004cmr.3_Missense_Mutation_p.P63L|EXD3_uc004cms.3_Missense_Mutation_p.P124L	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	124					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GCTGGCCAGTGGTGCCGCAAG	0.642000														57			11		0	0	1	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315777	73315777	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:73315777G>A	uc002siu.4	-	2	1210	c.969C>T	c.(967-969)gaC>gaT	p.D323D	RAB11FIP5_uc002sit.4_Silent_p.D245D	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	323					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GGCCCTGAAGGTCCAGAAGGG	0.622000														25			11		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137852557	137852557	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:137852557G>A	uc002tva.1	+	2	972	c.972G>A	c.(970-972)ggG>ggA	p.G324G	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Silent_p.G214G	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)		GCCGTTCAGGGAGTCTCTTGC	0.537000														64			30		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949180	27949180	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:27949180G>A	uc003zqv.1	-	6	2140	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	LINGO2_uc010mjf.1_Missense_Mutation_p.S497F|LINGO2_uc003zqu.1_Missense_Mutation_p.S497F|LINGO2_uc022bfc.1_Missense_Mutation_p.S497F	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	497	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CACAGTTAAGGAGGCTGTGAA	0.483000														84			20		0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104432603	104432603	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:104432603C>T	uc003yln.3	+	1	915	c.638C>T	c.(637-639)tCg>tTg	p.S213L	DCAF13_uc003ylm.1_Intron	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	61					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTCCTTGCTTCGCTGGATGGT	0.458000														45			23		0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79384754	79384754	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:79384754C>T	uc002sod.2	-	3	752	c.404G>A	c.(403-405)aGa>aAa	p.R135K	REG3A_uc002soe.2_Missense_Mutation_p.R135K|REG3A_uc002sof.2_Missense_Mutation_p.R135K	NM_138938	NP_620355	Q06141	REG3A_HUMAN	Homo sapiens regenerating islet-derived 3 alpha (REG3A), transcript variant 2, mRNA.	135	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						GGAGGGATTTCTCTCCCATGC	0.537000														94			38		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28592681	28592681	+	Missense_Mutation	SNP	C	T	T	rs148480385		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:28592681C>T	uc001urw.3	-	19	2546	c.2464G>A	c.(2464-2466)Ggg>Agg	p.G822R	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Intron	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	822	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACCACTTTCCCGTGGGTGACA	0.463000			"""Mis, O"""		"""AML, ALL"""									72			17		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540465	133540465	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:133540465C>T	uc002ttp.3	-	13	4293	c.3919G>A	c.(3919-3921)Gag>Aag	p.E1307K	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1307							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTGCCTCTCTCGGCGGTATTG	0.567000														63			26		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41333221	41333221	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:41333221C>T	uc001rmm.1	+	11	1426	c.1313C>T	c.(1312-1314)cCt>cTt	p.P438L	CNTN1_uc009zjy.2_Missense_Mutation_p.P438L|CNTN1_uc001rmn.1_Missense_Mutation_p.P427L|CNTN1_uc001rmo.3_Missense_Mutation_p.P438L	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	438	Ig-like C2-type 5.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane		p.K437E(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAATGCAAACCTAAAGCTGCA	0.398000														41			24		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135202	156135202	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:156135202G>A	uc003ioq.3	+	1	600	c.111G>A	c.(109-111)gaG>gaA	p.E37E	NPY2R_uc003ior.3_Silent_p.E37E|NPY2R_uc021xtm.1_Silent_p.E37E	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	37					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CTGACCCTGAGCCAGAGCTTA	0.483000														67			20		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152470822	152470822	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:152470822G>A	uc021vrb.1	-	71	10869	c.10840C>T	c.(10840-10842)Cag>Tag	p.Q3614*	NEB_uc002txu.3_Nonsense_Mutation_p.Q3857*|NEB_uc021vrc.1_Nonsense_Mutation_p.Q3857*|NEB_uc010fnx.3_Nonsense_Mutation_p.Q3602*|NEB_uc021vrd.1_Nonsense_Mutation_p.Q3614*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3614					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCCGAGCCTGAATGACGTCA	0.473000														96			43		0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39724454	39724454	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39724454C>T	uc002hxe.4	-	5	1420	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	452	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TGGTAGGTCTCGATTTCCTTC	0.552000														24			20		0	0	1	0	0
CDK2AP1	8099	broad.mit.edu	37	12	123751787	123751787	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:123751787G>A	uc001ueq.3	-	1	620	c.98C>T	c.(97-99)tCa>tTa	p.S33L		NM_004642	NP_004633	O14519	CDKA1_HUMAN	Homo sapiens cyclin-dependent kinase 2 associated protein 1 (CDK2AP1), mRNA.	33					DNA-dependent DNA replication|S phase of mitotic cell cycle|protein phosphorylation	cytoplasm|nucleus	DNA binding|protein binding			lung(2)|stomach(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000554)|Epithelial(86;0.00178)		GCGGTACTGTGAAGACGTTGC	0.622000														78			23		0	0	1	0	0
SPPL2B	56928	broad.mit.edu	37	19	2352957	2352957	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:2352957C>T	uc002lvs.3	+	15	1606	c.1526C>T	c.(1525-1527)cCa>cTa	p.P509L	SPPL2B_uc002lvr.3_3'UTR	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	Homo sapiens signal peptide peptidase-like 2B (SPPL2B), transcript variant 2, mRNA.	510	Pro-rich.					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		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)		GTCCTACCTCCATCTCCGTGG	0.682000														26			12		0	0	1	0	0
WHAMMP2	440253	broad.mit.edu	37	15	28986388	28986388	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:28986388G>A	uc010azf.3	+	1		c.736G>A			WHAMMP2_uc010uap.2_Non-coding_Transcript|WHAMMP2_uc010azg.1_Non-coding_Transcript|WHAMMP2_uc010azh.1_Non-coding_Transcript|WHAMMP2_uc001zci.1_Non-coding_Transcript					Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2 (WHAMMP2), non-coding RNA.																		GCCATTTAGGGCTATGCGAGA	0.328000														17			6		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127671201	127671201	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:127671201C>T	uc003kuu.3	-	28	4232	c.3793G>A	c.(3793-3795)Gaa>Aaa	p.E1265K	FBN2_uc003kuv.2_Missense_Mutation_p.E1232K	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1265	EGF-like 19; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAGCTGCATTCGTAGCTTCCC	0.433000														165			70		0	0	1	0	0
GSDMB	55876	broad.mit.edu	37	17	38062518	38062518	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:38062518G>A	uc010cwj.3	-	7	865	c.734C>T	c.(733-735)tCt>tTt	p.S245F	GSDMB_uc010cwi.3_5'UTR|GSDMB_uc010cwl.3_Non-coding_Transcript|GSDMB_uc010cwm.3_Non-coding_Transcript|GSDMB_uc010cwk.3_Non-coding_Transcript|GSDMB_uc002htg.3_Missense_Mutation_p.S223F|GSDMB_uc002hth.3_Missense_Mutation_p.S232F|GSDMB_uc010wem.2_Missense_Mutation_p.S236F	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	240			D -> G (in a breast cancer sample; somatic mutation).			cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CGAACCCAAAGACTTTCCTGT	0.473000														38			27		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31284752	31284752	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31284752G>A	uc002ebr.3	+	7	869	c.771G>A	c.(769-771)acG>acA	p.T257T	ITGAM_uc002ebq.3_Silent_p.T257T|ITGAM_uc010cam.1_5'Flank	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	257	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTGTCATCACGGATGGAGAAA	0.498000														54			36		0	0	1	0	0
HOXC4	3221	broad.mit.edu	37	12	54448070	54448070	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54448070C>T	uc001seu.3	+	2	1044	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	HOXC4_uc001sex.3_Missense_Mutation_p.P122S	NM_014620	NP_705897	P09017	HXC4_HUMAN	Homo sapiens homeobox C4 (HOXC4), transcript variant 1, mRNA.	122						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						CCAGCCAGCCCCCGACCATCC	0.637000														25			10		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40728919	40728919	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:40728919C>T	uc001rmg.4	+	39	6029	c.5908C>T	c.(5908-5910)Cta>Tta	p.L1970L	LRRK2_uc009zjw.3_Silent_p.L808L|LRRK2_uc001rmi.3_Silent_p.L803L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1970	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CACTAGAACCCTACAGCACAG	0.517000														62			19		0	0	1	0	0
ADAL	161823	broad.mit.edu	37	15	43641199	43641199	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:43641199C>T	uc010udo.2	+	9	1221	c.647C>T	c.(646-648)tCc>tTc	p.S216F	ADAL_uc001zrh.3_Missense_Mutation_p.S243F|ADAL_uc001zri.2_Missense_Mutation_p.S128F	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN	Homo sapiens adenosine deaminase-like (ADAL), transcript variant 1, mRNA.	243					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GAGGGAGGATCCCTGGATCTG	0.488000														61			31		0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88402646	88402646	+	Missense_Mutation	SNP	C	T	T	rs146646005		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:88402646C>T	uc002ssr.3	+	6	1043	c.958C>T	c.(958-960)Cgt>Tgt	p.R320C	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_Missense_Mutation_p.R16C	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGACAAGGCTCGTTCCGAGGG	0.463000														35			21		0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39435943	39435943	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:39435943G>A	uc003gua.3	+	1	1036	c.939G>A	c.(937-939)acG>acA	p.T313T	KLB_uc011byj.2_Silent_p.T313T	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	313	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						CGGAAAACACGATGGATATAT	0.468000														65			24		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644533	169644533	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:169644533G>A	uc003fgd.3	+	5	750	c.483G>A	c.(481-483)caG>caA	p.Q161Q	SAMD7_uc003fge.3_Silent_p.Q161Q|SAMD7_uc011bpo.2_Silent_p.Q62Q	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	161										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GAAACCTTCAGGGAAACCCCA	0.562000														83			49		0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023314	6023314	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:6023314C>T	uc010qzv.2	-	0	1065	c.1065G>A	c.(1063-1065)aaG>aaA	p.K355K		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K355N(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATTCCCTGCTTGATCTCCT	0.433000														53			31		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10267156	10267156	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10267156G>A	uc002mng.3	-	16	1442	c.1262C>T	c.(1261-1263)cCc>cTc	p.P421L	DNMT1_uc010xlc.2_Missense_Mutation_p.P437L|DNMT1_uc002mnh.3_Missense_Mutation_p.P316L|DNMT1_uc010xld.2_Missense_Mutation_p.P421L	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	421	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGTGTCGATGGGACACAGGTG	0.473000														49			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179497087	179497087	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179497087C>T	uc021vsy.1	-	184	36055	c.35830G>A	c.(35830-35832)Gaa>Aaa	p.E11944K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5639K|TTN_uc021vta.1_Missense_Mutation_p.E5572K|TTN_uc021vtb.1_Missense_Mutation_p.E5447K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12871	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R11944*(1)		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)			ACAGCACTTTCCTTCTCTTTG	0.403000														12			9		0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45936027	45936027	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:45936027G>A	uc001jce.3	+	7	1230	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E	ALOX5_uc009xmt.3_Silent_p.E377E|ALOX5_uc010qfg.2_Silent_p.E377E|ALOX5_uc021ppr.1_Silent_p.E377E	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	377	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TGGTGTCTGAGGTTTTTGGCA	0.542000														38			17		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566682	55566682	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:55566682G>A	uc010qhq.2	-	34	5095	c.4700C>T	c.(4699-4701)tCc>tTc	p.S1567F	PCDH15_uc010qhr.2_Missense_Mutation_p.S1562F	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, mRNA.	422					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)				TCGAACAGGGGAAGCAACTTT	0.458000										HNSCC(58;0.16)				175			39		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90139096	90139096	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:90139096G>A	uc010yts.2	+	29		c.3279G>A								Parts of antibodies, mostly variable regions.																		GACCCAGTCAGGACACAGCAT	0.547000														191			46		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332927	70332927	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70332927G>A	uc001oqc.3	-	20	3385	c.3273C>T	c.(3271-3273)ttC>ttT	p.F1091F	SHANK2_uc010rqn.2_Silent_p.F567F|SHANK2_uc001opz.3_Silent_p.F562F|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	778					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding	p.F1158F(1)|p.F562F(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGCCACCCACGAAATGGTTTT	0.672000														69			29		0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139564197	139564197	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:139564197G>A	uc021zfy.1	-	9	1686	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	507						cytoplasm		p.F507F(2)		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)		GAATTATCATGAAGGCTGTGG	0.512000														122			50		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153864657	153864657	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:153864657C>T	uc003inf.2	+	0	523	c.448C>T	c.(448-450)Cct>Tct	p.P150S		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	150	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GTCTTCCCTTCCTAGGAGAGG	0.478000														81			28		0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36789956	36789956	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:36789956C>T	uc002xhr.3	-	1	156	c.56G>A	c.(55-57)cGa>cAa	p.R19Q	TGM2_uc010zvx.2_Missense_Mutation_p.R19Q|TGM2_uc010zvy.2_Intron|TGM2_uc002xhs.1_Missense_Mutation_p.R19Q|TGM2_uc002xht.3_Missense_Mutation_p.R19Q|TGM2_uc002xhu.3_Missense_Mutation_p.R19Q	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	19					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GTGGTGGTCTCGGCCATTGGT	0.622000														94			38		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70144128	70144128	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:70144128C>T	uc001deo.1	+	1	1522	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C				Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	0						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						TAAAGAGGTTCGTGCAGCACT	0.403000														10			8		0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076389	87076389	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:87076389C>T	uc011lfy.2	-	1	657	c.657G>A	c.(655-657)atG>atA	p.M219I		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	219	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			AGAGTGTCTTCATTGTCCAGT	0.438000														77			7		0	0	1	0	0
TCL1B	9623	broad.mit.edu	37	14	96157628	96157628	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:96157628C>T	uc001yfa.3	+	2	408	c.357C>T	c.(355-357)gtC>gtT	p.V119V	TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript|TCL1B_uc001yez.3_Silent_p.V119V	NM_004918	NP_004909	O95988	TCL1B_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1B (TCL1B), transcript variant 1, mRNA.	119										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		AGCAGCTGGTCCTAACATATC	0.562000														23			8		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071222	70071222	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:70071222C>T	uc010kak.3	+	27	4333	c.4057C>T	c.(4057-4059)Ccc>Tcc	p.P1353S	BAI3_uc003pev.4_Missense_Mutation_p.P1353S|BAI3_uc011dxx.2_Missense_Mutation_p.P559S	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1353					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAATATGAATCCCCCTGTAAT	0.423000														109			7		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18776967	18776967	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:18776967G>A	uc003zne.4	+	18	2892	c.2740G>A	c.(2740-2742)Gac>Aac	p.D914N		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	914	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTGGGAGAAGGACGGCCAGCA	0.677000														47			6		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117803253	117803253	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117803253C>T	uc004bjj.4	-	18	5771	c.5359G>A	c.(5359-5361)Gaa>Aaa	p.E1787K	TNC_uc010mvf.3_Missense_Mutation_p.E1514K|TNC_uc022bmj.1_Missense_Mutation_p.E1424K	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1787	Fibronectin type-III 13.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGTTCACTTTCCTCAAAGCCC	0.498000														80			29		0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26966471	26966471	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:26966471G>A	uc002hbu.3	-	10	1194	c.1091C>T	c.(1090-1092)aCc>aTc	p.T364I	KIAA0100_uc002hbv.3_Missense_Mutation_p.T364I	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	364						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GAGGTCAATGGTGGTCACCTG	0.453000														22			25		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587930	55587930	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55587930C>T	uc010rin.2	+	0	825	c.825C>T	c.(823-825)gcC>gcT	p.A275A		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCAAAGTGGCCTCTGTGTTTT	0.498000														105			15		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45914634	45914634	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:45914634C>T	uc010gzz.3	+	1	299	c.152C>T	c.(151-153)tCg>tTg	p.S51L	FBLN1_uc003bgg.1_Missense_Mutation_p.S51L|FBLN1_uc003bgh.3_Missense_Mutation_p.S51L|FBLN1_uc003bgi.1_Missense_Mutation_p.S51L|FBLN1_uc003bgj.1_Missense_Mutation_p.S51L	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	51	Anaphylatoxin-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	p.S51W(4)|p.C50Y(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AAGGACTGCTCGCTGCCATAT	0.552000														10			5		0	0	1	0	0
NKG7	4818	broad.mit.edu	37	19	51875290	51875290	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51875290C>T	uc002pwj.3	-	2	514	c.343G>A	c.(343-345)Gag>Aag	p.E115K	NKG7_uc002pwk.3_Missense_Mutation_p.E80K	NM_005601	NP_005592	Q16617	NKG7_HUMAN	Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA.	115						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCCACCGCTCGCTGGTGTAC	0.607000														67			29		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43858479	43858479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:43858479G>A	uc010skx.2	-	9	1424	c.1424C>T	c.(1423-1425)cCt>cTt	p.P475L		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	475	Disintegrin.					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)		AAGTTCTGAAGGCAGATTATA	0.383000														70			11		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187509917	187509917	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:187509917G>A	uc003izf.3	-	26	13784	c.13596C>T	c.(13594-13596)gtC>gtT	p.V4532V	FAT1_uc010isn.3_Silent_p.V179V	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	4532					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCATGCTCTCGACAGCGGGCG	0.557000										HNSCC(5;0.00058)				51			13		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372323	175372323	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:175372323C>T	uc001gkp.1	-	1	1010	c.929G>A	c.(928-930)gGg>gAg	p.G310E	TNR_uc009wwu.1_Missense_Mutation_p.G310E|TNR_uc010pmz.1_Missense_Mutation_p.G310E	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	310	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E309K(1)|p.G310G(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GACGCAGAGCCCCTCCTCACA	0.612000														58			15		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313046	54313046	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54313046C>T	uc002qcj.4	-	2	2087	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.E623K|NLRP12_uc002qci.4_Missense_Mutation_p.E623K|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.E623K	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	623					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ATAAACTCCTCCTCCTGGATC	0.567000														65			23		0	0	1	0	0
SP6	80320	broad.mit.edu	37	17	45925633	45925633	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:45925633G>A	uc002imh.1	-	1	441	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F	SP6_uc002img.1_Missense_Mutation_p.L55F|SP6_uc021tzc.1_Missense_Mutation_p.L55F	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Homo sapiens Sp6 transcription factor (SP6), mRNA.	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CCCAGCGGGAGGCTCTGCAGC	0.692000														16			10		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916027	131916027	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:131916027C>T	uc003ytd.4	-	6	2158	c.1902G>A	c.(1900-1902)ggG>ggA	p.G634G	ADCY8_uc010mds.3_Silent_p.G634G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	634					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.V633V(1)|p.V633M(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CATTCTGTTTCCCCACGATAT	0.498000										HNSCC(32;0.087)				63			20		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68650889	68650889	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:68650889C>T	uc010bib.3	-	5	594	c.507G>A	c.(505-507)ctG>ctA	p.L169L	ITGA11_uc002ari.3_Silent_p.L169L	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	169	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TGGAGCCATCCAGGACAATGA	0.527000														31			24		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42796998	42796998	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:42796998C>T	uc002otf.1	+	13	3496	c.3456C>T	c.(3454-3456)ttC>ttT	p.F1152F		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1152	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTAGCCCTTTCCCCAGCGCCA	0.632000			"""Mis, F, S"""		oligodendroglioma									112			15		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1058699	1058699	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:1058699C>T	uc002lqw.4	+	37	5463	c.5232C>T	c.(5230-5232)ttC>ttT	p.F1744F	ABCA7_uc002lqy.3_Silent_p.F197F|ABCA7_uc010dsc.3_Non-coding_Transcript	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1744					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GGCCCCTCTTCCTTCTCTTCA	0.572000														115			42		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210574720	210574720	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:210574720C>T	uc002vde.1	+	11	5063	c.4815C>T	c.(4813-4815)acC>acT	p.T1605T	MAP2_uc002vdd.1_Silent_p.T306T|MAP2_uc002vdf.1_Silent_p.T249T|MAP2_uc002vdg.1_Silent_p.T249T|MAP2_uc002vdh.1_Silent_p.T306T|MAP2_uc002vdi.1_Silent_p.T1601T	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1605					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTCCTGGCACCCCACCAAGTT	0.562000														98			46		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228515	21228515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21228515G>A	uc002red.3	-	25	11353	c.11225C>T	c.(11224-11226)tCa>tTa	p.S3742L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3742					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GACAAGAACTGAATTTAGATC	0.383000														157			49		0	0	1	0	0
HIST1H3F	8968	broad.mit.edu	37	6	26250518	26250518	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:26250518C>T	uc003nhg.1	-	0	318	c.316G>A	c.(316-318)Gag>Aag	p.E106K	HIST1H2BH_uc003nhh.3_5'Flank	NM_021018	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3f (HIST1H3F), mRNA.	106					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			lung(6)|urinary_tract(1)	7						TTGGTGTCCTCAAAGAGCCCC	0.602000											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		147			38		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197036305	197036305	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:197036305C>T	uc001gtt.1	-	0	93	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	17					blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GCATAGAGTTCTCCTGAGATT	0.284000														38			14		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7334709	7334709	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7334709G>A	uc001mfe.3	+	2	818	c.581G>A	c.(580-582)gGa>gAa	p.G194E	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	194						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CAGTTGACTGGAATTGGTAGA	0.413000														93			9		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50530608	50530608	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50530608G>A	uc021pqb.1	+	0	18	c.18G>A	c.(16-18)aaG>aaA	p.K6K	C10orf71_uc021pqa.1_Silent_p.K5K|C10orf71_uc021pqc.1_Silent_p.K6K	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	6										endometrium(1)	1						AAGGAAATAAGAAGTGCACAG	0.537000														13			4		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552399	1552399	+	Missense_Mutation	SNP	G	A	A	rs142083473	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:1552399G>A	uc010gai.3	-	2	817	c.718C>T	c.(718-720)Cgt>Tgt	p.R240C	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	240	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.R240C(2)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGTCCCACGAAGAGGGTCC	0.627000														76			31		0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11944573	11944573	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:11944573C>T	uc010yjm.2	+	16	2238	c.2185C>T	c.(2185-2187)Ccc>Tcc	p.P729S	LPIN1_uc010yjn.2_Missense_Mutation_p.P644S|LPIN1_uc002rbt.3_Missense_Mutation_p.P644S|LPIN1_uc010yjo.2_Missense_Mutation_p.P145S	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	644	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GAAGAATGGCCCCAACGACGT	0.468000														66			21		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121016536	121016536	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:121016536G>A	uc010rzo.2	+	10	3816	c.3816G>A	c.(3814-3816)aaG>aaA	p.K1272K		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1272	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCTGGGTGAAGAGGGACACCT	0.592000														103			25		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24835206	24835206	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:24835206G>A	uc001iru.4	+	20	6188	c.5785G>A	c.(5785-5787)Gga>Aga	p.G1929R	KIAA1217_uc001irs.3_Missense_Mutation_p.G1250R|KIAA1217_uc001irt.4_Missense_Mutation_p.G1295R|KIAA1217_uc010qcy.2_Missense_Mutation_p.G1360R|KIAA1217_uc010qcz.2_Missense_Mutation_p.G1335R|KIAA1217_uc001irw.3_3'UTR|KIAA1217_uc001irz.3_3'UTR|KIAA1217_uc001irx.3_3'UTR|KIAA1217_uc001iry.3_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1929					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGCACAGAATGGAAGTTCAAG	0.483000														61			26		0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76332544	76332544	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:76332544C>T	uc003ket.3	+	4	1063	c.681_splice	c.e4+1	p.S227_splice	AGGF1_uc003keu.1_Splice_Site	NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	227					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)		TATTATGATTCTGTAAGTATC	0.438000														79			6		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927322	43927322	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:43927322C>T	uc010yny.2	+	7	1308	c.1225C>T	c.(1225-1227)Cct>Tct	p.P409S	PLEKHH2_uc002rte.3_Missense_Mutation_p.P409S|PLEKHH2_uc002rtf.3_Missense_Mutation_p.P408S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	409						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CACCCCAAGCCCTATTTTGAC	0.423000														94			35		0	0	1	0	0
LOC344967	344967	broad.mit.edu	37	4	40045328	40045328	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:40045328C>T	uc011byr.1	-	2	822	c.328G>A	c.(328-330)Gag>Aag	p.E110K						Homo sapiens acyl-CoA thioesterase 7 pseudogene (LOC344967), non-coding RNA.																		TGGCCCTCCTCCTCCTGCTCC	0.597000														25			15		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303883	151303883	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:151303883G>A	uc022cgz.1	-	0	210	c.210C>T	c.(208-210)acC>acT	p.T70T	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.T70T|MAGEA10_uc004ffm.2_Silent_p.T70T|MAGEA10_uc004ffl.3_Silent_p.T70T	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	70										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCTCTGGGGTGCTTGGTA	0.532000														40			54		0	0	1	0	0
STC1	6781	broad.mit.edu	37	8	23702404	23702404	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:23702404C>T	uc003xdw.1	-	3	907	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	208					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GAAGTCAGCTCGTGGGTGTGT	0.557000														77			17		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15688901	15688901	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:15688901C>T	uc001ioc.1	-	11	1151	c.1151G>A	c.(1150-1152)gGg>gAg	p.G384E	ITGA8_uc010qcb.1_Missense_Mutation_p.G369E	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	384					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.G384L(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ACCGAATCTCCCAAACGTCTC	0.483000														51			15		0	0	1	0	0
GOLGA8E	390535	broad.mit.edu	37	15	23444016	23444016	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:23444016G>A	uc001yvu.3	+	13	1686	c.671G>A	c.(670-672)gGa>gAa	p.G224E	JA429730_uc021sfs.1_5'Flank					Homo sapiens golgin A8 family, member E (GOLGA8E), non-coding RNA.											endometrium(1)|kidney(1)|lung(3)|skin(1)	6		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;5.21e-07)|Epithelial(43;5.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.000614)		GGACACGGAGGAGAACATCTG	0.617000														65			10		0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23549177	23549177	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23549177G>A	uc001wit.4	-	5	1869	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V	ACIN1_uc001wis.4_Missense_Mutation_p.A196V|ACIN1_uc010akg.3_Missense_Mutation_p.A514V|ACIN1_uc010tnj.2_Missense_Mutation_p.A474V	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	514					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ATCCTTCTGGGCTGAGTAGTC	0.493000														94			61		0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55280709	55280709	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:55280709C>T	uc001cyb.4	+	7	1101	c.1047C>T	c.(1045-1047)agC>agT	p.S349S	C1orf177_uc001cya.4_Silent_p.S349S	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	349										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TTATGGGAAGCTGGGTAAGTG	0.542000														105			42		0	0	1	0	0
INTS4L1	285905	broad.mit.edu	37	7	64643370	64643370	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:64643370C>T	uc003ttw.3	+	5		c.777C>T								Homo sapiens integrator complex subunit 4-like 1 (INTS4L1), non-coding RNA.																		CAGAGATATTCGAGAGGCTCT	0.398000														45			10		0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40916996	40916996	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40916996C>T	uc010bbs.1	+	10	4773	c.4612C>T	c.(4612-4614)Caa>Taa	p.Q1538*	CASC5_uc010ucq.1_Nonsense_Mutation_p.Q1362*|CASC5_uc001zme.3_Nonsense_Mutation_p.Q1512*|CASC5_uc010bbt.1_Nonsense_Mutation_p.Q1512*	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	1538					CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GGAAAATATTCAAACAACTAA	0.383000														35			19		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451765	55451765	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55451765C>T	uc002qih.4	-	3	498	c.422G>A	c.(421-423)gGa>gAa	p.G141E	NLRP7_uc010esk.3_Missense_Mutation_p.G141E|NLRP7_uc002qig.4_Missense_Mutation_p.G141E|NLRP7_uc002qii.4_Missense_Mutation_p.G141E|NLRP7_uc010esl.3_Missense_Mutation_p.G169E	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	141							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTCAATGTCTCCTTGCCAAAA	0.463000														453			178		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6759655	6759655	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:6759655G>A	uc002wmu.1	+	2	1895	c.1110G>A	c.(1108-1110)tcG>tcA	p.S370S		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	370					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	GTGCTATCTCGATGCTGTACC	0.428000														50			15		0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110714266	110714266	+	Silent	SNP	C	T	T	rs148812598	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:110714266C>T	uc003puc.3	-	4	826	c.822G>A	c.(820-822)ccG>ccA	p.P274P	METTL24_uc003pub.2_Intron|DDO_uc003pud.3_Silent_p.P215P	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	246					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TTTCTGCATCCGGGGACAGAT	0.522000														90			52		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33586667	33586667	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33586667G>A	uc002xbi.2	+	34	4582	c.4265G>A	c.(4264-4266)aGc>aAc	p.S1422N		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1380						membrane|myosin filament	ATP binding|actin binding|motor activity	p.S1422R(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAGTGGAGGAGCAAGTACGAA	0.627000														46			12		0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112144721	112144721	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:112144721C>T	uc004bed.2	-	23	2501	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	PTPN3_uc004beb.2_Missense_Mutation_p.E666K|PTPN3_uc004bec.2_Missense_Mutation_p.E621K|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.E752K|PTPN3_uc011lwh.1_Missense_Mutation_p.E643K|PTPN3_uc011lwd.1_Missense_Mutation_p.E265K|PTPN3_uc011lwe.1_Missense_Mutation_p.E510K|PTPN3_uc011lwf.1_Missense_Mutation_p.E465K	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	797	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTGTGTTCTTCCCCGGTCTGT	0.577000														23			30		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133475156	133475156	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:133475156C>T	uc003epu.2	+	10	2394	c.666C>T	c.(664-666)gcC>gcT	p.A222A	TF_uc011blt.2_Silent_p.A95A|TF_uc003epw.2_Intron|TF_uc003epv.2_Silent_p.A222A	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	222	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GGGATGTGGCCTTTGTCAAGC	0.517000														25			3		0	0	1	0	0
NCF1C	654817	broad.mit.edu	37	7	74582409	74582410	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:74582409_74582410GG>AA	uc003ubv.3	-	3	394_395	c.255_256CC>TT	c.(253-258)tcccgc>tcTTgc	p.R86C	NCF1C_uc011kfn.2_Missense_Mutation_p.R86C|NCF1C_uc011kfo.2_Missense_Mutation_p.R84C					Homo sapiens neutrophil cytosolic factor 1C pseudogene (NCF1C), non-coding RNA.																		TGGGGACAGCGGGAGATCTTGG	0.604000														52			6		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39645728	39645728	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:39645728C>T	uc003xnj.3	-	8	760	c.685G>A	c.(685-687)Gag>Aag	p.E229K	ADAM2_uc003xnk.3_Missense_Mutation_p.E210K|ADAM2_uc011lck.2_Missense_Mutation_p.E229K|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	229	Peptidase M12B.				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)		ATCCAAAGCTCCAATGAAGAC	0.274000														86			17		0	0	1	0	0
PHB	5245	broad.mit.edu	37	17	47482519	47482519	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:47482519G>A	uc002iox.1	-	6	727	c.654C>T	c.(652-654)tcC>tcT	p.S218S		NM_002634	NP_002625	P35232	PHB_HUMAN	Homo sapiens prohibitin (PHB), mRNA.	218					DNA replication|cellular response to interleukin-6|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			CAGCTGCCTTGGAGTCGCCCT	0.567000														29			4		0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282476	59282476	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59282476C>T	uc010rkv.2	+	0	91	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ATTTACCTTCCTGTTTTTGGT	0.433000														204			11		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88472476	88472476	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:88472476C>T	uc002bme.2	-	16	2385	c.2079G>A	c.(2077-2079)gtG>gtA	p.V693V	NTRK3_uc002bmh.2_Silent_p.V685V|NTRK3_uc002bmf.2_Silent_p.V693V|NTRK3_uc021sua.1_Silent_p.V685V|NTRK3_uc010upl.1_Silent_p.V595V|NTRK3_uc010bnh.1_Silent_p.V685V	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	693	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCCCAATCTTCACTAGCAGAT	0.562000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				160			12		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118147626	118147626	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:118147626C>T	uc003yoh.3	+	0	290	c.60C>T	c.(58-60)ttC>ttT	p.F20F	SLC30A8_uc010mcz.3_Intron|SLC30A8_uc003yog.3_5'UTR|SLC30A8_uc011lia.2_5'UTR|SLC30A8_uc022bab.1_5'UTR	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	20					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGTATGCTTTCACACTAGAAA	0.403000														152			40		0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11343898	11343898	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:11343898G>A	uc002mqs.4	-	21	2740	c.2699C>T	c.(2698-2700)tCc>tTc	p.S900F	DOCK6_uc010xlq.2_Missense_Mutation_p.S204F	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	900					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CAGGATGCGGGAAACCTCGTC	0.622000														21			10		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143772241	143772241	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:143772241C>T	uc011ktx.2	+	0	929	c.929C>T	c.(928-930)tCa>tTa	p.S310L		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					AAGAGAACTTCATGAAAGCCT	0.398000														176			63		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332847	70332847	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:70332847C>T	uc001oqc.3	-	20	3465	c.3353G>A	c.(3352-3354)aGc>aAc	p.S1118N	SHANK2_uc010rqn.2_Missense_Mutation_p.S594N|SHANK2_uc001opz.3_Missense_Mutation_p.S589N|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	805					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding	p.S1118L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGCTGGGCTGCTCTCGGGCCC	0.692000														63			26		0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55655605	55655605	+	Missense_Mutation	SNP	G	A	A	rs146327492		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55655605G>A	uc010rip.2	+	3	697	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	TRIM51_uc010riq.2_Missense_Mutation_p.R59Q	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	202						intracellular	zinc ion binding										GAAAGGCTGCGAAAGGAGGGC	0.428000														80			20		0	0	1	0	0
MIR371B	100616185	broad.mit.edu	37	19	54290995	54290995	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54290995C>T	uc021vba.1	-	1		c.1_splice	c.e1-1		MIR371A_uc010yec.2_Non-coding_Transcript|MIR373_uc010yee.1_5'Flank					Homo sapiens microRNA 371b (MIR371B), microRNA.																		TTGAGTGTTACCGCTTGAGAA	0.572000														27			10		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152084126	152084126	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152084126C>T	uc009wne.1	-	2	1839	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	TCHH_uc001ezp.2_Missense_Mutation_p.E523K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	523	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCCTCCTCCTGGCGCTTC	0.652000														196			44		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356180	10356180	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:10356180C>T	uc002gmn.3	-	24	3292	c.3181G>A	c.(3181-3183)Ggt>Agt	p.G1061S	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1061					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						TTTAGGTCACCCTCCAGTTTT	0.343000														96			69		0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30867933	30867933	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:30867933C>T	uc003ahy.3	-	0	102	c.13G>A	c.(13-15)Gtt>Att	p.V5I	SEC14L3_uc003ahz.3_5'UTR|SEC14L3_uc003aia.3_5'UTR|SEC14L3_uc003aib.3_5'UTR	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	5						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AGGTCTCCAACTCGGCCGCTC	0.632000														82			39		0	0	1	0	0
RBPMS2	348093	broad.mit.edu	37	15	65042566	65042566	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65042566G>A	uc002anq.3	-	2	432	c.180C>T	c.(178-180)tcC>tcT	p.S60S		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	Homo sapiens RNA binding protein with multiple splicing 2 (RBPMS2), mRNA.	60	RRM.						nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						GCTTGATCAGGGACCCTTCAT	0.572000														241			84		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62070963	62070963	+	Silent	SNP	G	A	A	rs118192212		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62070963G>A	uc002yey.1	-	5	1092	c.915C>T	c.(913-915)ttC>ttT	p.F305F	KCNQ2_uc002yez.1_Silent_p.F305F|KCNQ2_uc002yfa.1_Silent_p.F305F|KCNQ2_uc002yfb.1_Silent_p.F305F|KCNQ2_uc011aax.1_Silent_p.F305F|KCNQ2_uc002yfc.1_Silent_p.F305F	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	305					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CAGGCAGCGCGAAGAAGGAGA	0.632000														96			26		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57535160	57535160	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57535160C>T	uc001snd.3	+	2	660	c.194C>T	c.(193-195)cCa>cTa	p.P65L	LRP1_uc010sre.2_Missense_Mutation_p.P65L|LRP1_uc001snb.3_Missense_Mutation_p.P65L|LRP1_uc001snc.1_Missense_Mutation_p.P65L	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	65	LDL-receptor class A 1.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCTCAGGTCCACAGAGTAAG	0.577000														38			14		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074935	106074935	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:106074935G>A	uc001kyf.3	-	2	1328	c.875C>T	c.(874-876)tCc>tTc	p.S292F	ITPRIP_uc001kye.3_Missense_Mutation_p.S292F|ITPRIP_uc001kyg.3_Missense_Mutation_p.S292F|ITPRIP_uc021pxv.1_Missense_Mutation_p.S292F	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	292						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CAGGTACAGGGAATCTGTGGC	0.597000														48			17		0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444301	15444301	+	Missense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:15444301T>A	uc003gno.3	+	2	1028	c.769T>A	c.(769-771)Ttc>Atc	p.F257I	C1QTNF7_uc011bxb.2_Missense_Mutation_p.F250I|C1QTNF7_uc003gnp.3_Missense_Mutation_p.F250I	NM_001135170	NP_114117	Q9BXJ2	C1QT7_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA.	250	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GCTGGAGATTTTCTTCACAGA	0.493000														94			54		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2786979	2786979	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:2786979G>A	uc009zdu.1	+	42	5494	c.5181G>A	c.(5179-5181)ctG>ctA	p.L1727L	CACNA1C_uc001qkc.2_Silent_p.L1698L|CACNA1C_uc001qjz.2_Silent_p.L1679L|CACNA1C_uc001qkd.2_Silent_p.L1698L|CACNA1C_uc001qke.2_Silent_p.L1668L|CACNA1C_uc001qkf.2_Silent_p.L1687L|CACNA1C_uc009zdw.1_Silent_p.L1720L|CACNA1C_uc001qkg.2_Silent_p.L1685L|CACNA1C_uc001qkh.2_Silent_p.L1687L|CACNA1C_uc001qkl.2_Silent_p.L1727L|CACNA1C_uc001qkj.2_Silent_p.L1679L|CACNA1C_uc001qkk.2_Silent_p.L1679L|CACNA1C_uc001qkn.2_Silent_p.L1679L|CACNA1C_uc001qkm.2_Silent_p.L1668L|CACNA1C_uc001qko.2_Silent_p.L1699L|CACNA1C_uc001qkp.2_Silent_p.L1679L|CACNA1C_uc001qkq.2_Silent_p.L1707L|CACNA1C_uc001qku.2_Silent_p.L1679L|CACNA1C_uc001qkr.2_Silent_p.L1696L|CACNA1C_uc001qks.2_Silent_p.L1679L|CACNA1C_uc001qkt.2_Silent_p.L1698L|CACNA1C_uc009zdv.1_Silent_p.L1676L|CACNA1C_uc001qkb.2_Silent_p.L1679L|CACNA1C_uc001qki.1_Silent_p.L1415L|CACNA1C_uc010sea.1_Silent_p.L370L|AK093746_uc001qkx.1_Non-coding_Transcript|CACNA1C_uc001qky.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1727					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGGAGGAGCTGGACAAGGCCA	0.577000														45			16		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1077677	1077677	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:1077677C>T	uc001lsx.1	+	2	454	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	143	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGCGCCGGCCTCACCCTCAT	0.672000														18			8		0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18764911	18764911	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:18764911G>A	uc001mpd.3	-	4	788	c.357C>T	c.(355-357)ctC>ctT	p.L119L	PTPN5_uc001mpb.3_Intron|PTPN5_uc001mpc.3_Silent_p.L119L|PTPN5_uc010rdj.2_Intron|PTPN5_uc001mpf.3_Silent_p.L95L|PTPN5_uc001mpe.3_Intron|PTPN5_uc010rdk.2_Silent_p.L64L	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	119						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						AAGAGGAGACGAGGTTTGTGG	0.592000														46			74		0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68812269	68812269	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:68812269C>T	uc003hdr.1	-	1	153	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.R11Q	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	11					cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.R11Q(2)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ATTTCTGCTTCGGGTGCCAAA	0.488000														45			21		0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027138	92027138	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:92027138C>T	uc003ulw.2	+	18	2873	c.2497C>T	c.(2497-2499)Cct>Tct	p.P833S	ANKIB1_uc010lew.1_Missense_Mutation_p.P102S	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	833							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGACTACACCCCTGCCAGTCG	0.542000														186			67		0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171520744	171520744	+	Missense_Mutation	SNP	G	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:171520744G>C	uc003mbo.1	-	8	1526	c.1226C>G	c.(1225-1227)cCc>cGc	p.P409R		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	409							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTCCGCAGGGGCACAGGCAC	0.627000														56			10		0	0	1	0	0
ZBTB33	10009	broad.mit.edu	37	X	119388433	119388433	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:119388433C>T	uc022cdm.1	+	0	1163	c.1163C>T	c.(1162-1164)tCc>tTc	p.S388F	ZBTB33_uc010nqm.1_Missense_Mutation_p.S388F|ZBTB33_uc004esn.1_Missense_Mutation_p.S388F	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	Homo sapiens zinc finger and BTB domain containing 33 (ZBTB33), transcript variant 2, mRNA.	388					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						CTTTCCAATTCCTTAAAAATT	0.363000														42			47		0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47628107	47628107	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:47628107C>T	uc002eev.4	+	11	1238	c.1186C>T	c.(1186-1188)Ctt>Ttt	p.L396F	PHKB_uc002eeu.4_Missense_Mutation_p.L389F	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	396					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GACTCCAGTACTTCATCATAC	0.313000														66			7		0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40091482	40091482	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:40091482C>T	uc002hyj.4	+	1	216	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	TTC25_uc021txp.1_Nonsense_Mutation_p.Q43*	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	Homo sapiens tetratricopeptide repeat domain 25 (TTC25), mRNA.	43				Q -> K (in Ref. 3; AAH25390).		cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TCTTTACCTTCAGGATGGAGA	0.537000														24			11		0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109538218	109538218	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:109538218G>A	uc001dwl.3	-	7	2075	c.1699C>T	c.(1699-1701)Cct>Tct	p.P567S	WDR47_uc001dwi.3_Missense_Mutation_p.P560S|WDR47_uc001dwj.3_Missense_Mutation_p.P559S|WDR47_uc001dwk.2_Missense_Mutation_p.P531S|WDR47_uc010ovf.2_Missense_Mutation_p.P486S	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	559										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTTCCACAAGGTGATTCCTCC	0.363000														225			74		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180003	124180003	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124180003G>A	uc010sag.2	-	0	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	220					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)		TGTAGAGGATGAAGGCATAGG	0.507000														32			16		0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114841688	114841688	+	Missense_Mutation	SNP	C	T	T	rs145365553		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:114841688C>T	uc001tvo.3	-	1	511	c.16G>A	c.(16-18)Gag>Aag	p.E6K	TBX5_uc001tvp.3_Missense_Mutation_p.E6K|TBX5_uc001tvq.3_Intron|TBX5_uc010syv.2_Missense_Mutation_p.E6K	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	6					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.E6*(3)|p.E6K(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCAAAGCCCTCGTCTGCGTCG	0.677000														37			9		0	0	1	0	0
LPCAT1	79888	broad.mit.edu	37	5	1474126	1474126	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:1474126G>A	uc003jcm.3	-	10	1242	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	375					phospholipid biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GGACTTCCAGGGAGGCGGCAA	0.532000														34			19		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249996	52249996	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:52249996C>T	uc021uyn.1	-	2	398	c.252G>A	c.(250-252)agG>agA	p.R84R	FPR1_uc002pxq.3_Silent_p.R84R|FPR1_uc021uyo.1_Silent_p.R84R	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	84					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)	CCATGGCCTTCCTGACCATGA	0.517000														85			24		0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110018223	110018223	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:110018223C>T	uc001dxp.3	+	2	516	c.150C>T	c.(148-150)ttC>ttT	p.F50F	SYPL2_uc001dxo.2_Silent_p.F50F|SYPL2_uc010ovk.2_Silent_p.F50F|SYPL2_uc001dxq.2_5'Flank	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	Homo sapiens synaptophysin-like 2 (SYPL2), mRNA.	50	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTTTCGCCTTCGGGTCCTGTG	0.547000														64			13		0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735076	55735076	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:55735076G>A	uc010rit.2	-	0	864	c.864C>T	c.(862-864)atC>atT	p.I288I		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D287Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATGCCACCATGATATCTTTGT	0.333000														54			12		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108690226	108690226	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:108690226G>A	uc003dxl.3	-	24	2588	c.2501C>T	c.(2500-2502)cCt>cTt	p.P834L	MORC1_uc011bhn.2_Missense_Mutation_p.P813L	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	834					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTGATGCTCAGGAAAAAAATA	0.408000														69			24		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17548851	17548851	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:17548851C>T	uc001mnf.3	-	4	524	c.415G>A	c.(415-417)Gga>Aga	p.G139R	USH1C_uc001mne.3_Missense_Mutation_p.G139R|USH1C_uc009yhb.3_Missense_Mutation_p.G139R|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.G103R	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	139	PDZ 1.				G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ATGGAATATCCATTGATCCGG	0.547000														67			22		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140438247	140438247	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140438247G>A	uc010ncj.1	-	4	631	c.294C>T	c.(292-294)acC>acT	p.T98T	PNPLA7_uc004cnf.2_Silent_p.T73T	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	73					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCTCCACAAGGGTGTTGGGGA	0.602000														44			25		0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2026061	2026061	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:2026061C>T	uc002cnu.1	+	11	1236	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Silent_p.I264I|TBL3_uc010bsc.1_Silent_p.I264I|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	378					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TCTCAGATATCGTCCTGGCCC	0.642000														116			50		0	0	1	0	0
CARNS1	57571	broad.mit.edu	37	11	67191785	67191785	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67191785C>T	uc001olc.4	+	7	3794	c.2614C>T	c.(2614-2616)Cgt>Tgt	p.R872C	CARNS1_uc010rpr.2_Missense_Mutation_p.R856C|CARNS1_uc009yrp.3_Missense_Mutation_p.R733C|CARNS1_uc021qmh.1_Missense_Mutation_p.R291C	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	Homo sapiens carnosine synthase 1 (CARNS1), transcript variant 2, mRNA.	733					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CCCACGTGCTCGTGGCCATCT	0.657000														22			3		0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33454988	33454988	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:33454988G>A	uc003xjp.3	-	1	379	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	DUSP26_uc003xjq.3_Missense_Mutation_p.R16C	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA.	16						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.A15T(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CGGGAGAAGCGGGCCATAAAA	0.542000														39			7		0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2191098	2191098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:2191098G>A	uc001lvq.3	-	2	206	c.187C>T	c.(187-189)Ccg>Tcg	p.P63S	TH_uc001lvp.3_Missense_Mutation_p.P59S|TH_uc001lvr.3_Missense_Mutation_p.P32S|TH_uc010qxj.2_Missense_Mutation_p.P36S|TH_uc001lvs.3_Missense_Mutation_p.P32S|TH_uc001lvt.3_Missense_Mutation_p.P36S|TH_uc009ydh.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	63					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	ATGAACCGCGGGGACTGTGGG	0.716000														12			4		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5221023	5221023	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:5221023G>A	uc002mbv.3	-	19	3677	c.3443C>T	c.(3442-3444)cCc>cTc	p.P1148L	PTPRS_uc002mbu.1_Missense_Mutation_p.P717L|PTPRS_uc010xin.2_Missense_Mutation_p.P717L|PTPRS_uc002mbw.3_Missense_Mutation_p.P1126L|PTPRS_uc002mbx.3_Missense_Mutation_p.P721L|PTPRS_uc002mby.3_Missense_Mutation_p.P717L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1148					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GACAGGCACGGGGCTCTGGCC	0.622000														99			38		0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	29980386	29980386	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:29980386C>T	uc011kaa.2	-	4	760	c.711G>A	c.(709-711)gaG>gaA	p.E237E	SCRN1_uc011jzy.2_Silent_p.E149E|SCRN1_uc003tak.3_Silent_p.E217E|SCRN1_uc011jzz.2_Silent_p.E217E|SCRN1_uc011jzw.2_Intron|SCRN1_uc010kvp.3_Silent_p.E217E|SCRN1_uc011jzx.2_Silent_p.E40E	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	217					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TGAACTCGCCCTCTCCCGTCC	0.493000														156			56		0	0	1	0	0
LMF1	64788	broad.mit.edu	37	16	921174	921174	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:921174G>A	uc021tae.1	-	6	1069	c.1065C>T	c.(1063-1065)ccC>ccT	p.P355P	LMF1_uc010brg.2_5'Flank|LMF1_uc010uuu.2_Silent_p.P138P|LMF1_uc021tad.1_Silent_p.P186P|LMF1_uc010bri.2_Silent_p.P118P|LMF1_uc002ckk.2_Silent_p.P138P	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA.	355						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				ATCTGGGCTCGGGCCGGGCCC	0.667000														4			3		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79418033	79418033	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:79418033C>T	uc003hlb.2	+	59	9473	c.9033C>T	c.(9031-9033)ggC>ggT	p.G3011G	FRAS1_uc003hlc.1_Silent_p.G13G	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3006					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTACCTCGGCCTTCCTCTTG	0.453000														128			37		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61255990	61255990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61255990C>T	uc010xep.2	+	1	257	c.89C>T	c.(88-90)tCc>tTc	p.S30F	SERPINB13_uc002ljc.3_Missense_Mutation_p.S30F|SERPINB13_uc002ljd.3_5'UTR|SERPINB13_uc010xeq.2_5'UTR|SERPINB13_uc010xer.2_5'UTR	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	30					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ATCTTCTTTTCCCCTGTGGGC	0.532000														56			15		0	0	1	0	0
ADRA1D	146	broad.mit.edu	37	20	4228965	4228966	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:4228965_4228966CC>TT	uc002wkr.2	-	0	694_695	c.639_640GG>AA	c.(637-642)gcggcc>gcAAcc	p.A214T		NM_000678	NP_000669	P25100	ADA1D_HUMAN	Homo sapiens adrenergic, alpha-1D-, receptor (ADRA1D), mRNA.	214					DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	AGGATGGCGGCCGCCTTGCGCT	0.688000														6			4		0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089547	57089547	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57089547C>T	uc002qnl.4	+	5	2426	c.1750C>T	c.(1750-1752)Cag>Tag	p.Q584*	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	584				Q -> P (in Ref. 1; AAS64219).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGTTCAACATCAGAGACTCCA	0.453000														104			34		0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213625	3213625	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:3213625G>A	uc002fvi.2	+	0	87	c.21G>A	c.(19-21)ggG>ggA	p.G7G						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		GGAACTCAGGGAATGATTCAG	0.517000														41			26		0	0	1	0	0
DPYSL3	1809	broad.mit.edu	37	5	146785234	146785234	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:146785234G>A	uc003loo.3	-	7	1290	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	DPYSL3_uc003lon.1_Silent_p.L250L	NM_001197294	NP_001184223	Q14195	DPYL3_HUMAN	Homo sapiens dihydropyrimidinase-like 3 (DPYSL3), transcript variant 1, mRNA.	250					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	p.S363T(1)|p.V364A(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGACGTAGAGAGGGCAAT	0.498000														224			102		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7175787	7175787	+	Missense_Mutation	SNP	G	A	A	rs142773314		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7175787G>A	uc001qsj.3	+	13	1942	c.1223G>A	c.(1222-1224)aGc>aAc	p.S408N	C1S_uc001qsk.3_Missense_Mutation_p.S408N|C1S_uc001qsl.3_Missense_Mutation_p.S408N|C1S_uc009zfr.3_Missense_Mutation_p.S241N|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	408	Sushi 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGTAACGGGAGCTGGGTGAAT	0.582000														27			15		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103900460	103900460	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:103900460C>T	uc001kum.3	+	4	2234	c.2195C>T	c.(2194-2196)tCt>tTt	p.S732F	PPRC1_uc001kun.3_Missense_Mutation_p.S612F|PPRC1_uc010qqj.2_Missense_Mutation_p.S732F|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTTGTGGATTCTCTGAAAATT	0.547000														105			48		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542887	14542887	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:14542887C>T	uc010dln.3	-	0	713	c.259G>A	c.(259-261)Gac>Aac	p.D87N	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	87										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGGAGTTGTCATGGTCTCCA	0.592000														320			72		0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64408417	64408417	+	Silent	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:64408417T>C	uc003pep.1	+	6	2929	c.2904T>C	c.(2902-2904)tcT>tcC	p.S968S	PHF3_uc010kah.1_Silent_p.S782S|PHF3_uc003pen.2_Silent_p.S880S|PHF3_uc011dxs.1_Silent_p.S237S	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	968	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.R971fs*6(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGCTTTTCTCTTTTTTTCGGG	0.303000														61			34		0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671187	31671187	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:31671187C>T	uc010zue.2	+	2	199	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	62						cytoplasm|extracellular region	lipid binding										TGGTGATATTCCCTACAATGA	0.507000														122			39		0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127950857	127950857	+	Missense_Mutation	SNP	T	C	C	rs148028531	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:127950857T>C	uc003vmp.2	-	18	2388	c.2273A>G	c.(2272-2274)gAt>gGt	p.D758G	RBM28_uc011koj.1_Missense_Mutation_p.D617G	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	758					RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCATCAACTATCAAACCATTT	0.502000														191			10		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14857646	14857646	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:14857646G>A	uc003zlm.3	-	5	1549	c.733C>T	c.(733-735)Ctt>Ttt	p.L245F	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	245					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.G244D(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGATAACGAAGGCCCATCAGC	0.473000														61			32		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152060506	152060506	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152060506C>T	uc001ezo.1	-	1	179	c.114G>A	c.(112-114)caG>caA	p.Q38Q		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	38							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)			CAAACTCGCCCTGGATGAGTT	0.443000														194			50		0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899784	156899784	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:156899784C>T	uc003lwx.4	+	5	1333	c.1217C>T	c.(1216-1218)gCt>gTt	p.A406V	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Missense_Mutation_p.A387V	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	406						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						ATGCTGCATGCTTTCAAAGAC	0.547000														40			13		0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144810193	144810193	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144810193G>A	uc003yzk.3	-	4	1507	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	480					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAACCCGCGCGGCCCCCGCGA	0.721000														8			5		0	0	1	0	0
SLC38A7	55238	broad.mit.edu	37	16	58713945	58713945	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:58713945G>A	uc002eod.1	-	2	479	c.86C>T	c.(85-87)cCc>cTc	p.P29L	SLC38A7_uc002eoc.1_Missense_Mutation_p.P29L|SLC38A7_uc010vil.1_Intron|SLC38A7_uc002eoe.1_Missense_Mutation_p.P29L	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.	29					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						GTCCACACAGGGACTCTGCAG	0.622000														20			4		0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150835336	150835336	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150835336C>T	uc003wjg.1	+	11	1605	c.1602C>T	c.(1600-1602)tcC>tcT	p.S534S	AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Intron|AGAP3_uc003wjk.1_5'Flank	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	498	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCTCCTGCTCCGTTTCCAGCG	0.697000														14			8		0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116955341	116955341	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:116955341G>A	uc003viz.3	-	2	672	c.372C>T	c.(370-372)acC>acT	p.T124T	WNT2_uc003vja.3_Intron	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	124					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TACAGGCCCTGGTGATGGCAA	0.473000														83			17		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76464763	76464764	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76464763_76464764CC>TT	uc010dhp.2	-	54	8838_8839	c.8713_8714GG>AA	c.(8713-8715)ggc>AAc	p.G2905N	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTCATTCATGCCAAGGGACTTG	0.554000														37			12		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102964547	102964547	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:102964547G>A	uc002tbu.1	+	8	1384	c.1113G>A	c.(1111-1113)agG>agA	p.R371R	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	371					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ACAAGACTAGGAATGGTAAGT	0.378000														50			30		0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123596828	123596828	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123596828G>A	uc001pzd.1	-	8	2224	c.1824C>T	c.(1822-1824)ctC>ctT	p.L608L	ZNF202_uc001pzc.1_Silent_p.L384L|ZNF202_uc001pze.1_Silent_p.L608L|ZNF202_uc001pzf.1_Silent_p.L608L	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	608					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GATGCCTGACGAGGTGGTCCC	0.552000														81			28		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167419974	167419974	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:167419974G>A	uc010jjd.3	+	4	973	c.973G>A	c.(973-975)Ggg>Agg	p.G325R	ODZ2_uc021yhi.1_Missense_Mutation_p.G255R|ODZ2_uc003lzq.2_Missense_Mutation_p.G204R|ODZ2_uc003lzr.4_Missense_Mutation_p.G134R	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)		GACCTCCTCGGGGAGCACACC	0.552000														73			25		0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48727117	48727117	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:48727117G>A	uc003cuq.3	-	4	1095	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	IP6K2_uc003cup.3_Missense_Mutation_p.R212C	NM_016291	NP_057375	Q9UHH9	IP6K2_HUMAN	Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 1, mRNA.	212					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ACCTCGTAGCGGGAAGTCAGG	0.478000														45			23		0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748123	68748123	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:68748123C>T	uc010rqf.2	-	0	333	c.333G>A	c.(331-333)gtG>gtA	p.V111V		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	111						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCTCAGGCCCACTGTGTAGG	0.592000														53			7		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32716075	32716075	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:32716075G>A	uc004dda.1	-	8	1116	c.872C>T	c.(871-873)tCc>tTc	p.S291F	DMD_uc004dcz.2_Missense_Mutation_p.S168F|DMD_uc004dcy.1_Missense_Mutation_p.S287F|DMD_uc004ddb.1_Missense_Mutation_p.S283F|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.S283F|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	291					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)				AGGCTTAGGGGAAGAAGTTCT	0.512000														4			11		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178564848	178564848	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178564848C>T	uc003mjw.3	-	11	1975	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	625	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E624A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGGCACTGCTCCTCGCGGAAG	0.701000														5			3		0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38714175	38714175	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:38714175C>T	uc001rln.4	+	2	721	c.582C>T	c.(580-582)gtC>gtT	p.V194V		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	194					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCTGGGCTGTCTTCTGTGCAG	0.388000														287			45		0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114503831	114503831	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:114503831C>T	uc004bfr.3	-	8	1042	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfs.1_Missense_Mutation_p.E367K|C9orf84_uc004bfq.3_Missense_Mutation_p.E264K|C9orf84_uc010mug.3_Missense_Mutation_p.E249K	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	303										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTAGCTGATTCTTCAGCAGTA	0.254000														55			21		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134627736	134627736	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:134627736G>A	uc021qbc.1	-	53	7409	c.7308C>T	c.(7306-7308)atC>atT	p.I2436I		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	597										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGTCTTGGGTGATGGAGACAG	0.562000														22			13		0	0	1	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249106434	249106434	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:249106434G>A	uc001iew.1	-	6	1399	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S	SH3BP5L_uc010pzp.1_Missense_Mutation_p.P176S|SH3BP5L_uc001iev.1_Missense_Mutation_p.P164S	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA.	283								p.H282Y(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGGCCCAGGGGGTGGGGAGGC	0.716000														21			6		0	0	1	0	0
G3BP2	9908	broad.mit.edu	37	4	76571592	76571592	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:76571592C>T	uc003hir.3	-	10	1271	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E	G3BP2_uc003his.3_Missense_Mutation_p.G369E|G3BP2_uc003hit.3_Missense_Mutation_p.G336E	NM_012297	NP_987101	Q9UN86	G3BP2_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 2 (G3BP2), transcript variant 2, mRNA.	369	RRM.				Ras protein signal transduction|cytoplasmic sequestering of NF-kappaB|mRNA transport|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|RNA binding|nucleotide binding|receptor signaling complex scaffold activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TGGAAGCTTTCCCCCAACACC	0.348000														176			68		0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21314251	21314251	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:21314251C>T	uc002wsf.1	+	9	1023	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C	XRN2_uc002wsg.1_Missense_Mutation_p.R234C|XRN2_uc010zsk.1_Missense_Mutation_p.R256C	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	310					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TAATGTTCTTCGTGAGGTATG	0.403000														165			66		0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89424951	89424951	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:89424951G>A	uc002bnd.3	-	3	397	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F	HAPLN3_uc002bnc.3_Missense_Mutation_p.L44F|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	44	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACTCCATTAAGGAGGTCTTGG	0.622000														74			26		0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119569512	119569512	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:119569512C>T	uc003pym.1	-	5	1347	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	MAN1A1_uc010kei.2_Missense_Mutation_p.R325Q	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	302					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TGCTTTCTTTCGAAAAATCTG	0.348000														38			19		0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409322	59409322	+	Missense_Mutation	SNP	C	T	T	rs150039957	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:59409322C>T	uc003xtm.4	-	2	812	c.749G>A	c.(748-750)aGg>aAg	p.R250K		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	250					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GATGCTTTCCCTCTTTTGGAG	0.542000									Neonatal Giant Cell Hepatitis					224			31		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115986838	115986838	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:115986838G>A	uc001lbg.1	+	22	3336	c.3183G>A	c.(3181-3183)atG>atA	p.M1061I	TDRD1_uc001lbf.3_Missense_Mutation_p.M938I|TDRD1_uc001lbh.1_Missense_Mutation_p.M1048I|TDRD1_uc001lbi.1_Missense_Mutation_p.M1052I|TDRD1_uc010qsc.2_Intron|TDRD1_uc001lbj.3_Missense_Mutation_p.M770I	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	1061					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CAGGATTAATGGAATTGAATG	0.264000														16			5		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242054730	242054730	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242054730G>A	uc002wao.2	-	12	3304	c.3171C>T	c.(3169-3171)tcC>tcT	p.S1057S	PASK_uc010zol.2_Silent_p.S871S|PASK_uc010zom.2_Silent_p.S1022S|PASK_uc010fzl.2_Silent_p.S1057S|PASK_uc010zon.2_Silent_p.S838S|PASK_uc021vzf.1_Silent_p.S1057S|PASK_uc002wap.3_Silent_p.S600S|PASK_uc002waq.3_Silent_p.S1057S	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1057	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCTCCACCCTGGATAGAATTG	0.423000														69			42		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94696948	94696948	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94696948G>A	uc001ycs.1	+	3	473	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	107						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGCAGGAGTGGAAATGCAGTT	0.393000														68			18		0	0	1	0	0
TSGA10	80705	broad.mit.edu	37	2	99725409	99725409	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:99725409G>A	uc002szg.4	-	4	725	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C	TSGA10_uc002szh.4_Missense_Mutation_p.R33C|TSGA10_uc002szi.4_Missense_Mutation_p.R33C|TSGA10_uc010fin.1_Missense_Mutation_p.R33C|TSGA10_uc010yvn.1_Missense_Mutation_p.R33C	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	33					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGTTCTTCACGATCTCTTGTT	0.343000														41			8		0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100390947	100390947	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:100390947C>T	uc003pqh.1	-	3	780	c.465G>A	c.(463-465)ttG>ttA	p.L155L	MCHR2_uc003pqi.1_Silent_p.L155L	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	155						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CCCAAAGGCCCAAATTGATCC	0.473000														86			38		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196799399	196799399	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196799399C>T	uc002utj.4	-	20	3488	c.3387G>A	c.(3385-3387)gaG>gaA	p.E1129E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1129	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGAAATAATCTCTATGAGTT	0.393000														159			68		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091388	9091388	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9091388C>T	uc002mkp.3	-	0	631	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	143	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E143K(3)|p.E143Q(3)		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						GTAGATGCTTCTTTGGTAAAA	0.488000														55			31		0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19375254	19375254	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:19375254G>A	uc002zpf.1	-	10	1313	c.1093C>T	c.(1093-1095)Ccc>Tcc	p.P365S	HIRA_uc011agx.1_Missense_Mutation_p.P231S|HIRA_uc010grn.1_Missense_Mutation_p.P365S|HIRA_uc010gro.2_Missense_Mutation_p.P321S|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	365					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TCGCTCAGGGGATCGCCAAGC	0.572000														23			9		0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38775563	38775563	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:38775563G>A	uc003gtj.3	-	3	2287	c.1649C>T	c.(1648-1650)tCa>tTa	p.S550L	TLR10_uc021xnk.1_Missense_Mutation_p.S536L|TLR10_uc003gti.3_Missense_Mutation_p.S550L|TLR10_uc021xnl.1_Missense_Mutation_p.S550L|TLR10_uc003gtk.3_Missense_Mutation_p.S550L|TLR10_uc021xnm.1_Missense_Mutation_p.S550L	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	550	LRRCT.				MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ACAGGTGTATGAATCTGACCA	0.393000														98			32		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76744936	76744936	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:76744936C>T	uc001jwn.1	+	11	2965	c.2472C>T	c.(2470-2472)ttC>ttT	p.F824F	KAT6B_uc001jwm.1_Silent_p.F532F|KAT6B_uc001jwo.1_Silent_p.F532F|KAT6B_uc001jwp.1_Silent_p.F641F	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	824	Catalytic.|Interaction with BRPF1.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TCGAGCCATTCCTTTTTTATG	0.378000														82			12		0	0	1	0	0
SEC61A1	29927	broad.mit.edu	37	3	127783766	127783766	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:127783766C>T	uc003ekb.3	+	7	847	c.663C>T	c.(661-663)gcC>gcT	p.A221A	RUVBL1_uc003ekf.3_3'UTR|SEC61A1_uc003ekc.3_Silent_p.A168A|SEC61A1_uc003ekd.3_Silent_p.A101A|SEC61A1_uc003ekg.3_5'UTR	NM_013336	NP_037468	P61619	S61A1_HUMAN	Homo sapiens Sec61 alpha 1 subunit (S. cerevisiae) (SEC61A1), mRNA.	221					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						ATCTGCTGGCCACACGCACAG	0.507000														102			23		0	0	1	0	0
CBR4	84869	broad.mit.edu	37	4	169923281	169923281	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169923281G>A	uc003iry.3	-	3	704	c.476C>T	c.(475-477)tCa>tTa	p.S159L	CBR4_uc011cjy.2_Non-coding_Transcript|CBR4_uc003irz.2_Missense_Mutation_p.S159L	NM_032783	NP_116172	Q8N4T8	CBR4_HUMAN	Homo sapiens carbonyl reductase 4 (CBR4), mRNA.	159					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		AAGAGCACGTGAAAATCCAAC	0.343000														58			16		0	0	1	0	0
PRSS37	136242	broad.mit.edu	37	7	141536282	141536282	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141536282C>T	uc003vws.2	-	4	993	c.621G>A	c.(619-621)gtG>gtA	p.V207V	PRSS37_uc011krl.2_Silent_p.V206V|PRSS37_uc011krk.2_Silent_p.V194V|PRSS37_uc003vwt.2_Silent_p.V194V	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	207	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						TGAAGTGCCCCACCTCGATTC	0.502000														83			30		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3102863	3102863	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3102863C>T	uc001akf.3	+	1	294	c.212C>T	c.(211-213)cCt>cTt	p.P71L	PRDM16_uc001ake.3_Missense_Mutation_p.P71L|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.P71L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	71					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TACGAGGCCCCTGTCTACATT	0.657000			T	EVI1	"""MDS, AML"""									129			15		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32010529	32010529	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:32010529G>A	uc003jhl.3	+	5	1736	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	PDZD2_uc003jhm.3_Missense_Mutation_p.E450K|PDZD2_uc011cnx.1_Missense_Mutation_p.E276K	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	450					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GACTGATAACGAAGACCAGGA	0.522000														91			18		0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88106515	88106515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:88106515G>A	uc011cdb.1	-	2	1038	c.653C>T	c.(652-654)tCc>tTc	p.S218F	KLHL8_uc003hql.1_Missense_Mutation_p.S218F|KLHL8_uc003hqm.1_Missense_Mutation_p.S142F|KLHL8_uc003hqn.1_Intron|KLHL8_uc010ikj.1_Intron	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	Homo sapiens kelch-like 8 (Drosophila) (KLHL8), mRNA.	218										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ATCACTGGAGGACAAAAGCTT	0.428000														139			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255871	140255871	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140255871G>A	uc003lic.2	+	0	941	c.814G>A	c.(814-816)Gga>Aga	p.G272R	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.G272R	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	287	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGACGAAGGACTTAATGG	0.383000														130			39		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176314494	176314494	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:176314494G>A	uc003mfa.3	-	10	1650	c.1558C>T	c.(1558-1560)Cgc>Tgc	p.R520C	HK3_uc003mez.3_Missense_Mutation_p.R76C	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	520	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCAGCATGCGAAGGGAGGAG	0.652000														29			16		0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38156645	38156645	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:38156645G>A	uc001uwo.4	-	9	1368	c.1250C>T	c.(1249-1251)aCt>aTt	p.T417I	POSTN_uc010tet.2_5'Flank|POSTN_uc001uwp.4_Missense_Mutation_p.T417I|POSTN_uc001uwr.3_Missense_Mutation_p.T417I|POSTN_uc001uwq.3_Missense_Mutation_p.T417I|POSTN_uc010teu.1_Missense_Mutation_p.T417I|POSTN_uc010tev.1_Missense_Mutation_p.T417I|POSTN_uc010tew.1_Missense_Mutation_p.T417I|POSTN_uc010tex.1_Missense_Mutation_p.T332I	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	417	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CATGCTGAGAGTATCATCTGT	0.333000														52			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182156	140182156	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140182156C>T	uc003lhf.2	+	0	1374	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.S458S	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	472	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)			TCTCGCAGTCCGAGTACACGG	0.667000														115			51		0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49357515	49357515	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49357515G>A	uc002pkx.3	-	9	1605	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S	PLEKHA4_uc010eml.3_Missense_Mutation_p.P327S	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	352	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TCCAGGGGAGGACCCGGCTGA	0.498000														97			46		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50744969	50744969	+	Missense_Mutation	SNP	G	A	A	rs104895477		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:50744969G>A	uc002egm.1	+	3	1252	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	NOD2_uc021tia.1_Missense_Mutation_p.E215K|NOD2_uc010cbk.1_Missense_Mutation_p.E356K|NOD2_uc002egl.1_Missense_Mutation_p.E161K|NOD2_uc010cbl.1_Missense_Mutation_p.E161K|NOD2_uc010cbm.1_Missense_Mutation_p.E161K|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	383	NACHT.		E -> K (in BS).		JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.D382D(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGGCTTTGACGAGTTCAAGTT	0.542000														55			24		0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51289566	51289566	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:51289566C>T	uc001zyx.2	+	17	2497	c.2390C>T	c.(2389-2391)tCa>tTa	p.S797L	AP4E1_uc021skz.1_Missense_Mutation_p.S722L|AP4E1_uc010bex.1_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	797					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AGAAGGAAATCAAAAGTCAAA	0.323000														31			24		0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022371	120022371	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:120022371G>A	uc003ksq.3	+	1	1045	c.882G>A	c.(880-882)acG>acA	p.T294T	PRR16_uc003ksp.3_Silent_p.T271T|PRR16_uc003ksr.3_Silent_p.T224T	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	294										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CACAGAAGACGATCTTGAGGA	0.398000														40			19		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54299171	54299171	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:54299171C>T	uc002qcj.4	-	8	3263	c.3043G>A	c.(3043-3045)Ggt>Agt	p.G1015S	NLRP12_uc010eqw.3_Missense_Mutation_p.G240S|NLRP12_uc002qch.4_Missense_Mutation_p.G1014S|NLRP12_uc002qci.4_Missense_Mutation_p.G957S|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	1014					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGTCGGACACCTGTGTCCCCT	0.557000														47			10		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957747	111957747	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111957747G>A	uc001eba.3	-	10	1432	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	OVGP1_uc001eaz.3_Missense_Mutation_p.S421F|OVGP1_uc010owb.2_Missense_Mutation_p.S107F	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	459					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CTTTCCAAGGGATACAGTTTC	0.502000														74			28		0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113999705	113999705	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113999705G>A	uc010yxt.2	-	5	647	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	PAX8_uc010yxu.2_Missense_Mutation_p.P161S|PAX8_uc002tjm.3_Missense_Mutation_p.P161S|PAX8_uc002tjn.3_Missense_Mutation_p.P161S|PAX8_uc010fku.1_Missense_Mutation_p.P161S|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	161					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	p.P161S(2)	PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GCTGAGCTGGGGACTGCAGTG	0.642000			T	PPARG	follicular thyroid		Thyroid dysgenesis							15			13		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40933038	40933038	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:40933038G>A	uc002ibj.3	+	0	390	c.322G>A	c.(322-324)Ggc>Agc	p.G108S	WNK4_uc010wgx.2_5'UTR|WNK4_uc002ibk.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	108					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ACCCCCCGAGGGCACGTGGAC	0.731000														11			3		0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102826412	102826412	+	Missense_Mutation	SNP	G	A	A	rs2276093	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102826412G>A	uc001phl.3	-	0	52	c.23C>T	c.(22-24)gCc>gTc	p.A8V		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	8					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GAAGAGGAAGGCAGCCAGGAC	0.517000														75			19		0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109797140	109797140	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:109797140G>A	uc003ymy.1	-	1	293	c.188C>T	c.(187-189)tCt>tTt	p.S63F	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Missense_Mutation_p.S63F	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	63					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GGATGCTGGAGAAGAACTAAG	0.517000														131			12		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072209	17072209	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:17072209C>T	uc002zlp.1	-	0	1492	c.1232G>A	c.(1231-1233)gGa>gAa	p.G411E		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	411					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GGCCCCAGCTCCTGGAATCAG	0.562000														54			28		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171258191	171258191	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:171258191G>A	uc002ufy.3	+	17	2262	c.2119G>A	c.(2119-2121)Gaa>Aaa	p.E707K	MYO3B_uc002ufv.3_Missense_Mutation_p.E694K|MYO3B_uc010fqb.1_Missense_Mutation_p.E707K|MYO3B_uc002ufz.3_Missense_Mutation_p.E707K|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	707	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity	p.E707K(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCAGCCAGACGAAAACATATG	0.527000														34			13		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101778392	101778392	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:101778392G>A	uc004azb.1	+	10	1844	c.1638G>A	c.(1636-1638)tgG>tgA	p.W546*		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	546	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGAAAGATGGATCACTCCAG	0.597000														29			4		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086302	100086302	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:100086302C>T	uc003uvd.1	+	3	1117	c.958C>T	c.(958-960)Cct>Tct	p.P320S	NYAP1_uc003uve.1_Missense_Mutation_p.P102S	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	320	Pro-rich.																CAAGACCACTCCTTGTGAAAT	0.687000														102			48		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149486857	149486857	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:149486857C>T	uc010lpk.3	+	30	4631	c.4631C>T	c.(4630-4632)cCc>cTc	p.P1544L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1544					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTGCCTGGCCCCTCCCCAGGC	0.672000														38			19		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57293412	57293412	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:57293412G>A	uc002qnr.2	-	8	937	c.555C>T	c.(553-555)ttC>ttT	p.F185F	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc010etp.2_Silent_p.F185F|PEG3_uc010ygs.1_Silent_p.F185F|PEG3_uc002qnq.2_Silent_p.F185F	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	322					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R184R(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTCTGGGCTGAAGTCCACAA	0.507000														119			51		0	0	1	0	0
GAS2	2620	broad.mit.edu	37	11	22759280	22759280	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:22759280C>T	uc009yie.3	+	4	745	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F	GAS2_uc001mqm.3_Missense_Mutation_p.L147F|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.L147F	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	147	CH.				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						AGAAGTGTGTCTCTGTCTGCT	0.488000														82			37		0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332550	100332551	+	RNA	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:100332550_100332551GG>AA	uc021sxl.1	-	1		c.602_603CC>TT			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		GGCCGTCGGAGGGACCTCAGCG	0.584000														132			14		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169432679	169432679	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169432679G>A	uc011cjx.2	+	1	235	c.24G>A	c.(22-24)gaG>gaA	p.E8E	PALLD_uc003iru.3_Silent_p.E8E	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	8					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CCTCCCATGAGTCCTTCTATG	0.478000									Pancreatic Cancer, Familial Clustering of					71			26		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169433294	169433294	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:169433294C>T	uc011cjx.2	+	1	850	c.639C>T	c.(637-639)gcC>gcT	p.A213A	PALLD_uc003iru.3_Silent_p.A213A	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	213					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AGCCGTCAGCCCTGCTGAGTG	0.552000									Pancreatic Cancer, Familial Clustering of					107			16		0	0	1	0	0
NDUFS3	4722	broad.mit.edu	37	11	47605940	47605940	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:47605940C>T	uc001nga.2	+	6	784	c.702C>T	c.(700-702)gaC>gaT	p.D234D	NDUFS3_uc001nft.3_Silent_p.D213D|FAM180B_uc001ngb.2_5'Flank	NM_004551	NP_004542	O75489	NDUS3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) (NDUFS3), nuclear gene encoding mitochondrial protein, mRNA.	234					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|electron carrier activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	GCAAATTTGACCTGAACAGCC	0.562000														93			64		0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	326596	326596	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:326596G>A	uc002lok.1	-	5	505	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R166C(2)		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)		GCCAGGAAACGAGCTTTGGGA	0.562000														64			22		0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10176240	10176240	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:10176240C>T	uc004csy.4	+	8	1429	c.999C>T	c.(997-999)ttC>ttT	p.F333F	CLCN4_uc011mid.2_Silent_p.F239F	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	333						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTGAACTCTTCCCCTTCATCC	0.572000														54			65		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98547864	98547864	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:98547864C>T	uc003upp.3	+	36	5501	c.5292C>T	c.(5290-5292)ttC>ttT	p.F1764F	TRRAP_uc011kis.2_Silent_p.F1746F|TRRAP_uc003upr.3_Silent_p.F1463F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1764					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCCCAACTTCGGAGATGAAT	0.418000														85			42		0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122532572	122532572	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:122532572G>A	uc004etq.4	+	6	1290	c.998G>A	c.(997-999)cGg>cAg	p.R333Q	GRIA3_uc004etr.4_Missense_Mutation_p.R333Q|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.R317Q	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	333					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.R333Q(4)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GATGTGTCCCGGAGAGGAAGT	0.483000														11			19		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28993181	28993181	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:28993181C>T	uc002kwr.2	+	14	2938	c.2803C>T	c.(2803-2805)Cca>Tca	p.P935S	DSG4_uc002kwq.2_Missense_Mutation_p.P916S	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	916					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAATGCTGATCCATGTGTGCA	0.433000														144			68		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177198937	177198937	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:177198937C>T	uc001glf.3	+	2	237	c.-75_splice	c.e2-1			NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.							extracellular region				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						ACTTTTCCAGCTCCGAGCCCT	0.557000														17			9		0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97852938	97852938	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:97852938C>T	uc010yva.2	+	30	2289	c.2045C>T	c.(2044-2046)tCt>tTt	p.S682F	ANKRD36_uc010fic.2_Missense_Mutation_p.S401F|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Non-coding_Transcript|ANKRD36_uc002sxq.2_Intron	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	682										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TTTTCAGTGTCTTCTCAGAAA	0.323000														47			12		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132010506	132010506	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:132010506G>A	uc002tsn.2	+	12	1664	c.1612G>A	c.(1612-1614)Gct>Act	p.A538T	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.A138T|POTEE_uc002tsl.2_Missense_Mutation_p.A120T|POTEE_uc010fmy.1_Missense_Mutation_p.A2T	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	538							ATP binding										AAATTTTATGGCTATCGAAGA	0.353000														145			9		0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13107074	13107074	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:13107074C>T	uc010mhy.3	-	44	6073	c.6016G>A	c.(6016-6018)Gat>Aat	p.D2006N	MPDZ_uc003zkx.4_Missense_Mutation_p.D230N|MPDZ_uc003zky.4_Missense_Mutation_p.D569N|MPDZ_uc010mib.3_Missense_Mutation_p.D740N|MPDZ_uc010mhx.3_Missense_Mutation_p.D857N|MPDZ_uc011lmm.2_Missense_Mutation_p.D894N|MPDZ_uc003zkz.4_Missense_Mutation_p.D728N|MPDZ_uc010mhz.3_Missense_Mutation_p.D2002N|MPDZ_uc011lmn.2_Missense_Mutation_p.D1973N|MPDZ_uc003zlb.4_Missense_Mutation_p.D2006N	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	2035	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.G2006G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATGATCTGATCGCCCCTTTTC	0.448000														138			22		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74625024	74625024	+	Silent	SNP	C	T	T	rs149610315		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:74625024C>T	uc002axo.3	+	15	2170	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	CCDC33_uc002axp.3_Silent_p.F414F|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Silent_p.F185F|CCDC33_uc002axr.3_Silent_p.F185F	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	795							protein binding	p.F592F(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTCTAGGCTTCCCTATGCTCT	0.562000														148			44		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77386669	77386669	+	Missense_Mutation	SNP	C	T	T	rs139669465	by1000genomes	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:77386669C>T	uc004ajl.1	-	24	3724	c.3486G>A	c.(3484-3486)atG>atA	p.M1162I	TRPM6_uc004ajk.1_Missense_Mutation_p.M1157I|TRPM6_uc022bib.1_Missense_Mutation_p.M1157I|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.M118I	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1162					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCACATCTTCCATCTTCTCAT	0.363000														83			7		0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103484	52103484	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:52103484C>T	uc001jje.3	-	6	1345	c.391G>A	c.(391-393)Gag>Aag	p.E131K	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.E131K|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.E131K|SGMS1_uc021pqo.1_Missense_Mutation_p.E131K|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	137					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	p.E131*(2)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TTGCCCCACTCCATGGGGTAC	0.488000														72			38		0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839493	27839493	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:27839493G>A	uc022bud.1	+	0	70	c.70G>A	c.(70-72)Gat>Aat	p.D24N	MAGEB10_uc004dbw.3_Missense_Mutation_p.D24N	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	24										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AGGGCTGGAAGATTTGATAGA	0.512000														23			15		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54805731	54805731	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:54805731C>T	uc001sga.3	-	1	304	c.236G>A	c.(235-237)gGa>gAa	p.G79E	ITGA5_uc010sow.1_Intron|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	79					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CTTGGGTGCTCCCACCAGCAC	0.602000														25			11		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940488	144940488	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:144940488C>T	uc003zaa.1	-	0	6947	c.6934G>A	c.(6934-6936)Gac>Aac	p.D2312N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2312						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGTAGGGGTCGGTGTAGCCG	0.701000														300			14		0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135758808	135758808	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:135758808C>T	uc004fab.3	-	17	2382	c.1920G>A	c.(1918-1920)tcG>tcA	p.S640S	ARHGEF6_uc011mwd.2_Silent_p.S513S|ARHGEF6_uc011mwe.2_Silent_p.S486S	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	640					JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.S640S(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATTCCTCCTCCGATGGTTTTC	0.323000														11			22		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31342524	31342525	+	Silent	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:31342524_31342525CC>TT	uc002ebr.3	+	28	3416_3417	c.3318_3319CC>TT	c.(3316-3321)cccctg>ccTTtg	p.1106_1107PL>PL	ITGAM_uc002ebq.3_Silent_p.1105_1106PL>PL|ITGAM_uc010can.3_Silent_p.511_512PL>PL	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	1105					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TCCCCAACCCCCTGCCGCTCAT	0.673000														39			23		0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148921717	148921717	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:148921717C>T	uc003wfm.3	+	7	2099	c.1994C>T	c.(1993-1995)cCg>cTg	p.P665L	ZNF282_uc011kun.1_3'UTR|ZNF282_uc003wfo.3_3'UTR	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	665					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CGGCAGCTCCCGCCGCCTCCT	0.736000														10			4		0	0	1	0	0
DQ570500	0	broad.mit.edu	37	X	43137553	43137553	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:43137553G>A	uc004dfx.3	+	0		c.5G>A								Homo sapiens piRNA piR-30612, complete sequence.																		ACAAACTTCTGAATGGACCCT	0.537000														4			12		0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69109411	69109411	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:69109411C>T	uc001suf.3	+	11	1089	c.974C>T	c.(973-975)cCt>cTt	p.P325L	NUP107_uc001sug.3_Missense_Mutation_p.P172L|NUP107_uc010stj.2_Missense_Mutation_p.P296L	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	325					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTACAGGACCCTGATGCTCCC	0.358000														95			43		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651042	8651042	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:8651042C>T	uc002mkj.1	-	21	2898	c.2624G>A	c.(2623-2625)aGg>aAg	p.R875K	ADAMTS10_uc002mki.1_Missense_Mutation_p.R362K|ADAMTS10_uc002mkk.1_Missense_Mutation_p.R507K	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	875	TSP type-1 2.				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						GGCGCGCTGCCTTTTGGGCAG	0.662000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			6		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23862712	23862712	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:23862712C>T	uc001wjv.3	-	22	3015	c.2944G>A	c.(2944-2946)Gag>Aag	p.E982K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	982					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)		GCCATCTCCTCTGTTAGGTTC	0.532000														205			93		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	352969	352969	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:352969G>A	uc001qic.2	-	2	303	c.213C>T	c.(211-213)ttC>ttT	p.F71F	SLC6A13_uc009zdj.2_Silent_p.F71F|SLC6A13_uc010sdl.2_Intron|SLC6A13_uc010sdm.1_5'Flank	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	71					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.F70S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GGTAGGGGATGAAGAAGGCAC	0.527000														45			23		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179733990	179733990	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:179733990C>T	uc002une.2	-	14	2366	c.2248G>A	c.(2248-2250)Gag>Aag	p.E750K	CCDC141_uc002unf.1_Missense_Mutation_p.E229K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	175							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCAGTTAACTCCTCTGATTCT	0.338000														64			9		0	0	1	0	0
FABP12	646486	broad.mit.edu	37	8	82441730	82441730	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:82441730G>A	uc011lfp.2	-	1	189	c.189C>T	c.(187-189)atC>atT	p.I63I	FABP12_uc003ycg.4_Non-coding_Transcript	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN	Homo sapiens fatty acid binding protein 12 (FABP12), mRNA.	63							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						GCTTAAAGGAGATCTCATTAT	0.428000														97			45		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	120645	120645	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrGL000209.1:120645C>T	uc010yie.2	+	3	608	c.597C>T	c.(595-597)ttC>ttT	p.F199F	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Silent_p.F196F|KIR2DL2_uc002qum.3_Silent_p.F199F	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	199	Ig-like C2-type 2.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										ACAGATGCTTCGGCTCTTTCC	0.557000														226			76		0	0	1	0	0
CCK	885	broad.mit.edu	37	3	42299704	42299704	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:42299704G>A	uc021wwk.1	-	2	361	c.234C>T	c.(232-234)tcC>tcT	p.S78S	CCK_uc003cld.1_Silent_p.S78S	NM_001174138	NP_001167609	P06307	CCKN_HUMAN	Homo sapiens cholecystokinin (CCK), transcript variant 2, mRNA.	78					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		TCTTAACGATGGACATTCGTC	0.517000														60			26		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327197	150327197	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:150327197C>T	uc022apv.1	-	1	514	c.34G>A	c.(34-36)Gag>Aag	p.E12K	GIMAP6_uc003whn.3_Missense_Mutation_p.E12K|GIMAP6_uc003whm.3_Missense_Mutation_p.E12K	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	12							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGGGATTCTCCTGGGGAATT	0.423000														136			53		0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30033484	30033484	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:30033484G>A	uc021qfi.1	-	0	742	c.742C>T	c.(742-744)Ccc>Tcc	p.P248S	KCNA4_uc001msk.3_Missense_Mutation_p.P248S	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	248						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ATATCAAAGGGGACATTGACT	0.488000														137			8		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996099	140996099	+	Missense_Mutation	SNP	C	T	T	rs143297640		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140996099C>T	uc004fbt.3	+	3	3233	c.2909C>T	c.(2908-2910)cCt>cTt	p.P970L	MAGEC1_uc010nsl.2_Missense_Mutation_p.P37L|MAGEC1_uc022cfi.1_Missense_Mutation_p.P629L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	970	MAGE.						protein binding	p.P970H(2)		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)					GAAGTGGACCCTGATGACTCC	0.478000										HNSCC(15;0.026)				60			75		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3334455	3334456	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:3334455_3334456GG>AA	uc001akf.3	+	10	2837_2838	c.2755_2756GG>AA	c.(2755-2757)ggc>AAc	p.G919N	PRDM16_uc001ake.3_Missense_Mutation_p.G919N|PRDM16_uc009vlh.3_Missense_Mutation_p.G619N|PRDM16_uc001akc.3_Missense_Mutation_p.G918N	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	919	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGCGGACTCGGGCAGCTCCCTG	0.604000			T	EVI1	"""MDS, AML"""									112			38		0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24663358	24663358	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:24663358C>T	uc003swx.3	+	2	371	c.72C>T	c.(70-72)ttC>ttT	p.F24F	MPP6_uc003swy.3_Silent_p.F24F	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	24	L27 1.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ACCTAATTTTCCTCAAGGGAA	0.348000														61			25		0	0	1	0	0
GNLY	10578	broad.mit.edu	37	2	85922478	85922478	+	Missense_Mutation	SNP	G	A	A	rs149497301		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:85922478G>A	uc002sql.4	+	1	216	c.88G>A	c.(88-90)Gac>Aac	p.D30N	GNLY_uc010fgp.3_Missense_Mutation_p.D15N|GNLY_uc010ysx.2_Missense_Mutation_p.D57N	NM_006433	NP_006424	P22749	GNLY_HUMAN	Homo sapiens granulysin (GNLY), transcript variant NKG5, mRNA.	30					cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						TGAGTACTACGACCTGGCAAG	0.622000														30			16		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9264799	9264799	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:9264799G>A	uc001qvk.1	-	3	552	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C	A2M_uc009zgk.1_5'UTR	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	147					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GAGACAACACGAAATTTCACT	0.393000														49			10		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32189084	32189084	+	Missense_Mutation	SNP	C	T	T	rs149758111		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:32189084C>T	uc003obb.3	-	3	609	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.R157Q	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	157	EGF-like 4.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACAGAAGTCCCGAAGCTGGCA	0.577000														34			20		0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27582693	27582693	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:27582693G>A	uc003szf.3	-	4	724	c.511C>T	c.(511-513)Ctc>Ttc	p.L171F	HIBADH_uc003szg.3_Missense_Mutation_p.L122F|HIBADH_uc003szi.3_Missense_Mutation_p.L122F	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	171					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	ATAAACGTGAGGTTCCCAGAT	0.458000														42			24		0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98288962	98288962	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:98288962C>T	uc003yhy.3	-	0	1215	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	371					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	p.E371Q(2)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CACAATTCTTCGTTGATTATC	0.468000														216			63		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34118537	34118537	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:34118537C>T	uc011kap.2	+	12	1521	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	383	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ATTTAACTTTCAGGGGACGTG	0.572000														137			53		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4153782	4153782	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:4153782G>A	uc003smx.3	+	24	3838	c.3699G>A	c.(3697-3699)ctG>ctA	p.L1233L	SDK1_uc010kso.3_Silent_p.L509L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1233	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTGACCGGCTGGAGAGAGAAT	0.612000														42			12		0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180372697	180372697	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:180372697C>T	uc010hxe.3	-	6	898	c.783G>A	c.(781-783)ttG>ttA	p.L261L	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	261					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTCTTTAACCAAATTTTCTT	0.284000														23			7		0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36982672	36982673	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:36982672_36982673GG>AA	uc010jwp.1	+	7	1058_1059	c.887_888GG>AA	c.(886-888)cgg>cAA	p.R296Q	FGD2_uc003ong.2_Missense_Mutation_p.R18Q|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Missense_Mutation_p.R102Q	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	296					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.E295Q(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCCTAGGAGCGGCTGCAGGACC	0.639000														49			18		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129070703	129070703	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:129070703G>A	uc003kvb.1	+	21	3373	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	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.	1125	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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)		ACATGGAAATGAATGTTTTTC	0.418000														76			27		0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966695	58966695	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58966695C>T	uc002qsv.1	+	3	491	c.384C>T	c.(382-384)gcC>gcT	p.A128A	ZNF324B_uc002qsu.1_Silent_p.A118A|ZNF324B_uc010euq.1_Silent_p.A128A	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AACCGGGTGCCTCCCCATCTC	0.607000														87			35		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40964869	40964869	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:40964869G>A	uc003jmh.3	+	13	1890	c.1776G>A	c.(1774-1776)ggG>ggA	p.G592G	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	592	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TTCCTGTGGGGAAAAATGTAG	0.368000														65			27		0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206869639	206869639	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:206869639G>A	uc002vaz.4	-	10	2942	c.2537C>T	c.(2536-2538)cCc>cTc	p.P846L		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	846					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGTTGTGTGGGGAGAGGTGAT	0.517000														128			13		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174243	51174243	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:51174243G>A	uc021tif.1	-	1	1921	c.1599C>T	c.(1597-1599)gtC>gtT	p.V533V	SALL1_uc021tid.1_Silent_p.V533V|SALL1_uc021tie.1_Silent_p.V630V|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	630					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTGAGTTGGTGACCATGCCAC	0.637000														54			16		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141509	133141509	+	Nonstop_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:133141509T>G	uc003ytj.3	-	14	2844	c.2619A>C	c.(2617-2619)taA>taC	p.*873Y	KCNQ3_uc003yti.3_Nonstop_Mutation_p.*753Y|KCNQ3_uc010mdt.3_Nonstop_Mutation_p.*861Y	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	0					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.I872L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GTGACCTCTTTTAAATGGGCT	0.532000														51			14		0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26502051	26502051	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:26502051G>A	uc003nif.4	+	1	370	c.313G>A	c.(313-315)Ggg>Agg	p.G105R		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	105	Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CATCGCCAAGGGGCGCGTGGC	0.667000														50			8		0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617544	111617544	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:111617544C>T	uc004bdi.3	-	0	732	c.667G>A	c.(667-669)Gac>Aac	p.D223N		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	223						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			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						CCAGCGTAGTCGGCGCGGCTG	0.657000														59			14		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44833552	44833552	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:44833552G>A	uc010xwy.2	-	4	945	c.827C>T	c.(826-828)cCa>cTa	p.P276L	ZFP112_uc010ejj.3_Missense_Mutation_p.P259L|ZFP112_uc002ozc.4_Missense_Mutation_p.P253L|ZFP112_uc010xwz.2_Missense_Mutation_p.P258L	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						CCCAGTACATGGATAGGGCTT	0.428000														106			36		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701966	96701966	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:96701966G>A	uc001kka.4	+	2	374	c.349G>A	c.(349-351)Gga>Aga	p.G117R	CYP2C9_uc009xut.3_Missense_Mutation_p.G117R|CYP2C9_uc001kjz.3_Missense_Mutation_p.G117R	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	117					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TTTCAGCAATGGAAAGAAATG	0.522000														69			35		0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922823	17922823	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:17922823C>T	uc002nhl.1	+	2	1158	c.1011C>T	c.(1009-1011)taC>taT	p.Y337Y	B3GNT3_uc010ebd.1_Silent_p.Y337Y|B3GNT3_uc010ebe.1_Silent_p.Y337Y	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	337					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CCTGCTTCTACCGAGACCTGC	0.612000														170			69		0	0	1	0	0
ZNF431	170959	broad.mit.edu	37	19	21366005	21366005	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:21366005C>T	uc010ecr.2	+	4	1049	c.902C>T	c.(901-903)tCc>tTc	p.S301F	ZNF431_uc002npp.2_Missense_Mutation_p.S300F|ZNF431_uc010ecq.2_Missense_Mutation_p.S209F	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	Homo sapiens zinc finger protein 431 (ZNF431), mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S300S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TTCAACCGGTCCTCACACCTT	0.398000														86			22		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158225851	158225851	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158225851G>A	uc001frt.3	+	2	916	c.383G>A	c.(382-384)gGa>gAa	p.G128E	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	128					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AAGGTCTCAGGAAGCTTCTTG	0.438000														106			31		0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45683229	45683229	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:45683229C>T	uc003bfy.3	+	2	412	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L	UPK3A_uc010gzy.3_Intron	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	129					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CTCACAGATCCTGAATGCCTA	0.612000														25			9		0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811137	23811137	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:23811137G>A	uc001ywh.4	+	0	684	c.208G>A	c.(208-210)Gga>Aga	p.G70R	MKRN3_uc001ywi.3_Missense_Mutation_p.G70R|MKRN3_uc010ayi.1_Missense_Mutation_p.G70R	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	70						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CCTCCGCAGAGGAGGCCTGAG	0.657000														51			4		0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130060506	130060507	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:130060506_130060507CC>TT	uc001qfw.3	+	6	985_986	c.792_793CC>TT	c.(790-795)gacctt>gaTTtt	p.L265F	ST14_uc010sca.1_Missense_Mutation_p.L75F	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	265	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCAGCTTTGACCTTGCGTCCTG	0.703000														21			9		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369068	22369068	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22369068C>T	uc010tzu.2	+	0	591	c.493C>T	c.(493-495)Cga>Tga	p.R165*	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R165Q(1)|p.R165R(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCATTGTTCGACTTCCTTT	0.498000														205			42		0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104565220	104565220	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:104565220C>T	uc001yop.2	+	5	629	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	ASPG_uc001yoo.2_Missense_Mutation_p.R210W|ASPG_uc001yoq.2_Missense_Mutation_p.R182W|ASPG_uc001yor.2_Missense_Mutation_p.R182W	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	182	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TCAGCTGTTTCGGGGCAACCG	0.607000														24			5		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584325	82584325	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82584325C>T	uc003uhx.2	-	4	6233	c.5944G>A	c.(5944-5946)Gga>Aga	p.G1982R	PCLO_uc003uhv.2_Missense_Mutation_p.G1982R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1913					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						TGCATAAATCCATTTTCTTCT	0.363000														158			37		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834783	125834783	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:125834783G>A	uc001uhe.1	+	1	846	c.838G>A	c.(838-840)Gag>Aag	p.E280K	TMEM132B_uc021rgl.1_Missense_Mutation_p.E170K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	280						integral to membrane		p.D279H(1)		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)		GAGCTTGGACGAGAATGTGGT	0.567000														157			63		0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128595288	128595288	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:128595288C>T	uc003ifk.2	+	5	1204	c.1101C>T	c.(1099-1101)ctC>ctT	p.L367L	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	367										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GTTCATCCCTCCTTTTAAATG	0.303000														49			11		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371608	240371608	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:240371608C>T	uc010pye.2	+	5	3733	c.3508C>T	c.(3508-3510)Ccc>Tcc	p.P1170S	FMN2_uc010pyd.2_Missense_Mutation_p.P1166S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1166	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCCCCACCTCCCCCTCTACC	0.692000														22			16		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53814059	53814059	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:53814059G>A	uc003dgv.4	+	37	4757	c.4594G>A	c.(4594-4596)Gtt>Att	p.V1532I	CACNA1D_uc003dgu.4_Missense_Mutation_p.V1552I|CACNA1D_uc003dgy.4_Missense_Mutation_p.V1517I|CACNA1D_uc003dgw.4_Missense_Mutation_p.V1199I|CACNA1D_uc003dgx.1_Missense_Mutation_p.V708I	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1532					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACAGAGATTAGTTGCCATGAA	0.418000														93			20		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086661	39086661	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:39086661C>T	uc011aej.1	-	2	852	c.799G>A	c.(799-801)Ggg>Agg	p.G267R	KCNJ6_uc002ywo.2_Missense_Mutation_p.G267R	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	267					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CGGTCATCCCCCGTGTAATAC	0.507000														98			46		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36149358	36149358	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:36149358G>A	uc003gsq.2	-	17	3349	c.3011C>T	c.(3010-3012)cCc>cTc	p.P1004L		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1004					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						AGCAAATAAGGGAACAAAATG	0.358000														32			16		0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887907	97887907	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:97887907C>T	uc011bgu.2	+	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GGCATATGATCGCTATGTAGC	0.378000														162			27		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37486340	37486341	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:37486340_37486341CC>TT	uc021ppc.1	+	28	2579_2580	c.2480_2481CC>TT	c.(2479-2481)gcc>gTT	p.A827V	ANKRD30A_uc001iza.1_Missense_Mutation_p.A827V	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	883						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A827V(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTAGCCTGCCATTGAAATGC	0.307000														103			36		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85710914	85710914	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:85710914G>A	uc003hpd.3	-	21	4042	c.3634C>T	c.(3634-3636)Ctt>Ttt	p.L1212F		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1212						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCAATATAAAGGGCTGCAGTA	0.428000														91			32		0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399344	46399344	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46399344G>A	uc003cpn.4	+	1	811	c.326G>A	c.(325-327)gGg>gAg	p.G109E	CCR2_uc003cpm.4_Missense_Mutation_p.G109E|CCR2_uc021wxa.1_Missense_Mutation_p.G109E	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	109					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TGGGTCTTTGGGAATGCAATG	0.438000														245			102		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62257019	62257019	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:62257019G>A	uc001dab.3	+	9	1183	c.1069_splice	c.e9-1	p.D357_splice	INADL_uc009waf.1_Splice_Site_p.D357_splice|INADL_uc001daa.2_Splice_Site_p.D357_splice|INADL_uc001dad.3_Splice_Site_p.D54_splice	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	357					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTTCCTTTTAGGACAGTTCTC	0.338000														63			7		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111164350	111164350	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:111164350C>T	uc001vqx.3	+	47	5240	c.4951C>T	c.(4951-4953)Cgc>Tgc	p.R1651C		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1651	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGAGGACTTCCGCGCCACACC	0.617000														69			33		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16373106	16373106	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:16373106C>T	uc001axx.4	+	3	442	c.306C>T	c.(304-306)gcC>gcT	p.A102A	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_5'Flank|CLCNKA_uc001axy.4_5'Flank	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	102					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)	ACCCTGTGGCCCTCGTCTCTT	0.597000														66			20		0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37663303	37663303	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:37663303C>T	uc004ddr.2	+	8	1132	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	CYBB_uc011mke.1_Non-coding_Transcript|CYBB_uc011mkf.1_Silent_p.I325I|CYBB_uc011mkg.1_Silent_p.I90I	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	357	FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						ATATCCGCATCGTTGGGGACT	0.468000														56			12		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31432838	31432838	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:31432838C>T	uc010dmi.3	-	10	2183	c.1885G>A	c.(1885-1887)Gaa>Aaa	p.E629K	NOL4_uc010xbs.2_Missense_Mutation_p.E344K|NOL4_uc002kxr.4_Missense_Mutation_p.E401K|NOL4_uc010xbt.2_Missense_Mutation_p.E555K|NOL4_uc010dmh.3_Missense_Mutation_p.E491K|NOL4_uc010xbu.2_Missense_Mutation_p.E565K|NOL4_uc002kxt.4_Missense_Mutation_p.E527K	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	629						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						TTTTCCAGTTCATCTGCAGAT	0.418000														65			6		0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59557575	59557575	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:59557575G>A	uc010ddo.3	+	7	1079	c.916G>A	c.(916-918)Gag>Aag	p.E306K	TBX4_uc002izi.3_Missense_Mutation_p.E306K|TBX4_uc010woy.2_Missense_Mutation_p.E306K	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	306					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTACCAGCACGAGAACGGGGC	0.637000														98			57		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99438711	99438711	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:99438711C>T	uc002szf.1	-	6	2319	c.2025G>A	c.(2023-2025)ccG>ccA	p.P675P		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	675								p.P675P(2)		NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						TGTCCTCACTCGGGGCCGGCT	0.711000														12			8		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51347726	51347726	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:51347726G>A	uc011bds.2	+	27	3009	c.2986G>A	c.(2986-2988)Gac>Aac	p.D996N		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	996						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTTCCCTCGGGACTGGATGGT	0.463000														17			5		0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328875	88328875	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:88328875C>T	uc001vln.3	+	1	1451	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	SLITRK5_uc010tic.1_Missense_Mutation_p.P170L|SLITRK5_uc021rlc.1_Missense_Mutation_p.P411L	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	411						integral to membrane		p.N410K(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCCTACAATCCCAAGAAAATG	0.557000														25			10		0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44253805	44253805	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:44253805C>T	uc003oxi.2	-	2	898	c.742G>A	c.(742-744)Gat>Aat	p.D248N	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	248										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCTTGACATCGTACACCAGG	0.592000														67			21		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323175	61323175	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:61323175C>T	uc002lji.3	-	7	1033	c.889G>A	c.(889-891)Gac>Aac	p.D297N	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.D245N	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	297					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.D297N(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CTCAACGTGTCCTTGAGGTCA	0.488000														119			25		0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477323	88477323	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:88477323G>A	uc021rxh.1	+	0	132	c.132G>A	c.(130-132)aaG>aaA	p.K44K	GPR65_uc001xvv.3_Silent_p.K44K	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	44					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TGCAAGCAAAGAAGGAAAGTG	0.368000														123			11		0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151751443	151751443	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151751443G>A	uc009wnb.1	-	5	783	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Missense_Mutation_p.R197W|TDRKH_uc001ezc.4_Missense_Mutation_p.R156W|TDRKH_uc001eza.4_Missense_Mutation_p.R201W|TDRKH_uc001ezd.4_Missense_Mutation_p.R201W|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	201							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATTCTCTTCCGAAGTTCTTCA	0.453000														95			31		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10104455	10104455	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:10104455C>T	uc002mmq.1	-	16	1701	c.1615G>A	c.(1615-1617)Ggc>Agc	p.G539S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	539	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)			CCTGGGAGGCCCCGAGCTCCA	0.572000														125			8		0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27877351	27877351	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27877351G>A	uc021ojw.1	-	0	1276	c.1276C>T	c.(1276-1278)Ctg>Ttg	p.L426L	AHDC1_uc009vsy.3_Silent_p.L426L|AHDC1_uc009vsz.1_Silent_p.L426L	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	426	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGTTCGGCCAGGGCAGCCACC	0.726000														10			4		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	120053765	120053765	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:120053765G>A	uc004bjt.2	-	1	571	c.470C>T	c.(469-471)tCg>tTg	p.S157L		NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	157						integral to membrane		p.I156T(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GTGCACCAGCGAGATGTCCGC	0.627000														38			11		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101194818	101194818	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:101194818G>A	uc001dti.3	+	4	1305	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	VCAM1_uc010ouj.2_Missense_Mutation_p.E300K|VCAM1_uc001dtj.3_Intron	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	362	Ig-like C2-type 4.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGTGAGGAGTGAGGGGACCAA	0.507000														125			56		0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68905294	68905294	+	Silent	SNP	G	A	A	rs114379164	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:68905294G>A	uc001dei.1	-	6	729	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	225					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ATTGTACAACGATCTCTGACT	0.363000														102			27		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35631136	35631136	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:35631136G>A	uc002hnm.3	-	8	1036	c.845C>T	c.(844-846)cCc>cTc	p.P282L	ACACA_uc002hnk.3_Missense_Mutation_p.P204L|ACACA_uc002hnl.3_Missense_Mutation_p.P224L|ACACA_uc002hnn.3_Missense_Mutation_p.P282L|ACACA_uc002hno.3_Missense_Mutation_p.P319L|ACACA_uc010cuz.3_Missense_Mutation_p.P282L|ACACA_uc002hnq.2_Missense_Mutation_p.P204L	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	282	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAGCTCCTGGGGAACATTTAA	0.413000														65			38		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140991028	140991028	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:140991028C>T	uc004cog.3	+	35	5326	c.5181C>T	c.(5179-5181)ttC>ttT	p.F1727F	CACNA1B_uc022bqn.1_Silent_p.F1727F|CACNA1B_uc004coi.3_Silent_p.F941F|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Intron	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1729	EF-hand.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.L1726F(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGGATGAGTTCATCCGGGTCT	0.557000														47			18		0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74401374	74401374	+	Silent	SNP	G	A	A	rs144543657	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:74401374G>A	uc002jrm.4	-	2	566	c.501C>T	c.(499-501)atC>atT	p.I167I	UBE2O_uc002jrn.4_Silent_p.I167I	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	167							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TGTTGACGTCGATCACCGTGC	0.622000														42			18		0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39118816	39118816	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:39118816C>T	uc002hvo.1	-	4	745	c.709_splice	c.e4-1	p.E237_splice	KRT39_uc010wfm.1_Splice_Site	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	237	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AATTGATTTCCTAAGGAAAGA	0.403000														73			34		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813799	123813799	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:123813799G>A	uc010sab.2	-	0	747	c.747C>T	c.(745-747)gtC>gtT	p.V249V		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CATAGATGATGACCACCACTG	0.512000														87			31		0	0	1	0	0
MPP4	58538	broad.mit.edu	37	2	202549867	202549867	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:202549867C>T	uc002uyk.4	-	7	701	c.493_splice	c.e7-1	p.G165_splice	MPP4_uc010ftj.3_Splice_Site_p.G165_splice|MPP4_uc010zhq.2_Splice_Site_p.G165_splice|MPP4_uc010zht.2_Splice_Site_p.G138_splice|MPP4_uc010zhr.2_Splice_Site_p.G165_splice|MPP4_uc010zhs.2_Splice_Site_p.G121_splice|MPP4_uc002uyj.4_Splice_Site_p.G121_splice|MPP4_uc002uyl.4_Splice_Site|MPP4_uc010ftk.3_Splice_Site_p.G165_splice|MPP4_uc002uym.1_Splice_Site_p.G134_splice|MPP4_uc002uyn.3_Splice_Site_p.G121_splice	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	165	PDZ.					cytoplasm	protein binding			kidney(1)|lung(11)	12						GATGGTGGCTCCCTGAAGAGA	0.542000														16			3		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94935616	94935616	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:94935616C>T	uc003uns.3	-	6	858	c.761G>A	c.(760-762)tGg>tAg	p.W254*	PON1_uc011kih.2_Nonsense_Mutation_p.W254*	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	254					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	AGTTAAAGTCCAATTAGCATG	0.328000														170			36		0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46318912	46318912	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46318912G>A	uc002pdn.3	-	26	3976	c.3731C>T	c.(3730-3732)cCc>cTc	p.P1244L	RSPH6A_uc002pdm.3_5'Flank	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	1244					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GAGGGTCTGGGGGCTCCGCTC	0.692000														17			5		0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78444657	78444657	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:78444657G>A	uc001dii.3	-	0	121	c.32C>T	c.(31-33)tCt>tTt	p.S11F	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Missense_Mutation_p.S11F|DNAJB4_uc010orn.2_5'Flank	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	11					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGAGCCAGAAGAGGGGGGAGG	0.562000			"""F, N"""		oligodendroglioma									37			16		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90398133	90398133	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:90398133C>T	uc003kju.3	+	86	18504	c.18408C>T	c.(18406-18408)ctC>ctT	p.L6136L	GPR98_uc003kjt.3_Silent_p.L3842L|GPR98_uc003kjw.3_Silent_p.L1797L|GPR98_uc003kjx.3_Silent_p.L164L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	6136					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTTGGTTCTCTTTGTCATTT	0.373000											OREG0016703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			6		0	0	1	0	0
HLF	3131	broad.mit.edu	37	17	53345298	53345298	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:53345298C>T	uc002iug.1	+	1	827	c.302C>T	c.(301-303)cCa>cTa	p.P101L	HLF_uc010dce.1_Missense_Mutation_p.P16L|HLF_uc002iuh.2_Missense_Mutation_p.P16L|HLF_uc010wni.1_Missense_Mutation_p.H50Y	NM_002126	NP_002117	Q16534	HLF_HUMAN	Homo sapiens hepatic leukemia factor (HLF), mRNA.	101					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						CCCCCCAGCCCATCTCAGCAT	0.577000			T	TCF3	ALL									145			58		0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315887	50315887	+	Missense_Mutation	SNP	G	A	A	rs11554413		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:50315887G>A	uc001jhf.2	-	1	238	c.209C>T	c.(208-210)tCc>tTc	p.S70F	VSTM4_uc001jhh.2_Missense_Mutation_p.S70F	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	70	Ig-like.					integral to membrane|plasma membrane		p.D69N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGCCTCCTGGGAGTCGAAGGA	0.612000														58			24		0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107600912	107600912	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:107600912G>A	uc003vev.2	-	15	2525	c.2364C>T	c.(2362-2364)gcC>gcT	p.A788A	LAMB1_uc003vew.2_Silent_p.A764A|LAMB1_uc003vex.3_Silent_p.A764A	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	764	Laminin EGF-like 6.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.N788N(1)|p.N788K(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGTAACAGGGCAGAAATGC	0.488000														70			5		0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97052660	97052660	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:97052660G>A	uc003pos.2	+	3	610	c.194G>A	c.(193-195)gGa>gAa	p.G65E	FHL5_uc003pot.2_Missense_Mutation_p.G65E	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	65	LIM zinc-binding 1.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TGGCATGAAGGATGCTTCAAG	0.428000														66			10		0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95174054	95174054	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:95174054C>T	uc003htb.4	+	8	1354	c.1177C>T	c.(1177-1179)Ctt>Ttt	p.L393F	SMARCAD1_uc003htc.4_Missense_Mutation_p.L393F|SMARCAD1_uc003htd.4_Missense_Mutation_p.L393F|SMARCAD1_uc010ila.3_Missense_Mutation_p.L256F|SMARCAD1_uc011cdw.2_5'Flank	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	393					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TCTTCACTTCCTTCAAGATGC	0.408000														114			16		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47527654	47527654	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47527654C>T	uc003gxk.1	+	4	935	c.771C>T	c.(769-771)ggC>ggT	p.G257G	ATP10D_uc003gxj.3_Silent_p.G257G	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	257					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GATTCCGAGGCTTCCTGTGAG	0.378000														49			12		0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346082	102346082	+	Missense_Mutation	SNP	C	T	T	rs141580524	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:102346082C>T	uc010utr.2	+	0	160	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTCTGACCCTCGTTTACAGTC	0.468000														325			259		0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222818993	222818993	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:222818993C>T	uc001hnl.3	+	6	3584	c.3575C>T	c.(3574-3576)tCg>tTg	p.S1192L	MIA3_uc009xea.1_Missense_Mutation_p.S1028L|MIA3_uc001hnm.3_Missense_Mutation_p.S70L	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1192					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GGAATTGCTTCGTTTGCCATT	0.383000														46			17		0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054214	29054214	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:29054214C>T	uc003nlx.3	-	0	877	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AACCATCTTTCCCCAGTCCTT	0.443000														63			9		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26346380	26346380	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26346380G>A	uc003abz.1	+	36	6046	c.5796G>A	c.(5794-5796)gaG>gaA	p.E1932E	MYO18B_uc003aca.1_Silent_p.E1813E|MYO18B_uc010guy.1_Silent_p.E1814E|MYO18B_uc010guz.1_Silent_p.E1812E|MYO18B_uc011aka.1_Silent_p.E1086E|MYO18B_uc011akb.1_Silent_p.E1445E	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1932	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.Q1931K(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						TGCAGCTGGAGGAAGCCAAGA	0.438000														24			6		0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51465237	51465237	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:51465237C>T	uc001jio.3	-	6	1345	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|DQ588224_uc021pqk.1_5'Flank	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	407	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GCATCCCGCTCCTCATATGTC	0.512000														145			48		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432190	140432190	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140432190G>A	uc003lik.1	+	0	1212	c.1135G>A	c.(1135-1137)Gga>Aga	p.G379R		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	379	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTCGAGTGGGAGGAAAAGT	0.498000														53			29		0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54153116	54153116	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:54153116G>A	uc002rxp.2	-	12	1694	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	PSME4_uc010yop.1_Silent_p.F432F|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Silent_p.F531F	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	546					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACTGTAAGACGAAATCCTCAA	0.363000														61			18		0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124489501	124489501	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124489501G>A	uc001qah.3	+	3	849	c.849G>A	c.(847-849)ttG>ttA	p.L283L		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	Homo sapiens pannexin 3 (PANX3), mRNA.	283					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	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;0.0219)		ACACCATATTGGTTCCAGTGA	0.453000														66			23		0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40424494	40424494	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:40424494C>T	uc001cev.3	+	2	570	c.389C>T	c.(388-390)cCc>cTc	p.P130L	MFSD2A_uc010ojb.1_Missense_Mutation_p.P80L|MFSD2A_uc001ceu.3_Missense_Mutation_p.P117L|MFSD2A_uc010ojc.2_Intron|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	130					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CGCCTTATGCCCTGGTGAGTA	0.582000														177			81		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90077323	90077323	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:90077323C>T	uc003kju.3	+	64	13255	c.13159C>T	c.(13159-13161)Cgc>Tgc	p.R4387C	GPR98_uc003kjt.3_Missense_Mutation_p.R2093C|GPR98_uc003kjw.3_Missense_Mutation_p.R48C	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4387					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTCCATTGTTCGCATCATAAT	0.363000														23			10		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039417	31039417	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:31039417C>T	uc002nsu.1	+	3	3029	c.2891C>T	c.(2890-2892)tCc>tTc	p.S964F	ZNF536_uc010edd.1_Missense_Mutation_p.S964F	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	964					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCAAGTCCTCCCAGAGGAAG	0.582000														161			31		0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24671403	24671403	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24671403G>A	uc021oiw.1	+	11	1666	c.1436G>A	c.(1435-1437)gGa>gAa	p.G479E	GRHL3_uc001bix.3_Missense_Mutation_p.G479E|GRHL3_uc021oix.1_Missense_Mutation_p.G433E|GRHL3_uc001biy.3_Missense_Mutation_p.G484E|GRHL3_uc001biz.3_Missense_Mutation_p.G386E	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	479					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCCTCGGCAGGACCCAGCAGC	0.597000														52			15		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209790845	209790845	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:209790845G>A	uc001hhg.3	-	19	3528	c.3138C>T	c.(3136-3138)ctC>ctT	p.L1046L	LAMB3_uc009xco.3_Silent_p.L1046L|LAMB3_uc001hhh.3_Silent_p.L1046L	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	1046	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTTGGTGGCGGAGCTCCTCCA	0.607000														89			29		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129281993	129281993	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:129281993G>A	uc003emx.2	-	25	4712	c.4612C>T	c.(4612-4614)Cgc>Tgc	p.R1538C	PLXND1_uc011blb.1_Missense_Mutation_p.R206C	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1538					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGTGTGTAGCGGGCCTTGCCT	0.642000														34			6		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43376150	43376150	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:43376150C>T	uc002ovd.1	-	2	616	c.478G>A	c.(478-480)Gag>Aag	p.E160K	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.E160K|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Missense_Mutation_p.E160K|PSG3_uc002ovb.3_Missense_Mutation_p.E160K	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	160	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TCCATGGTCTCCCTGGGATTT	0.537000														200			81		0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87027688	87027688	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:87027688G>A	uc003dqn.3	-	1	755	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CGCCATAGGGGGGTTAGCCCC	0.507000														93			41		0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74328294	74328294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74328294C>T	uc002skb.4	+	8	3974	c.3974C>T	c.(3973-3975)tCg>tTg	p.S1325L		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1325							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGTGTGTTCTCGTCTGGGGAG	0.612000														28			9		0	0	1	0	0
RPS5	6193	broad.mit.edu	37	19	58906062	58906062	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:58906062C>T	uc002qsn.3	+	5	632	c.560C>T	c.(559-561)tCc>tTc	p.S187F	LOC646862_uc021vcz.1_5'Flank	NM_001009	NP_001000	P46782	RS5_HUMAN	Homo sapiens ribosomal protein S5 (RPS5), mRNA.	187					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		TCCTCGAACTCCTATGCCATT	0.567000														124			46		0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113704138	113704138	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:113704138C>T	uc001tux.3	+	4	781	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	TPCN1_uc001tuw.3_Missense_Mutation_p.P131S|TPCN1_uc010syt.1_Missense_Mutation_p.P63S	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	131						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CCCCGCCGTCCCCGCACTCCG	0.632000														255			127		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76437211	76437211	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:76437211C>T	uc010dhp.2	-	71	11724	c.11599G>A	c.(11599-11601)Gag>Aag	p.E3867K	DNAH17_uc002jvq.3_Missense_Mutation_p.E152K|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTGCTCTCCTCGTAGGACTTA	0.557000														29			16		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60753853	60753853	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:60753853G>A	uc002jad.3	+	10	2197	c.1795G>A	c.(1795-1797)Gat>Aat	p.D599N	MRC2_uc010ddq.1_Non-coding_Transcript	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	599	C-type lectin 3.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCTCAGTGGGGATGAAGTCAT	0.617000														97			43		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767873	105767873	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:105767873G>A	uc004bbs.2	+	4	1030	c.960G>A	c.(958-960)aaG>aaA	p.K320K		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	320	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.K320T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				aggatgcaaagaaaaatgcta	0.398000														21			7		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143679	55143679	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55143679C>T	uc002qgj.3	+	5	992	c.652C>T	c.(652-654)Ctg>Ttg	p.L218L	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.L218L|LILRB1_uc002qgk.3_Silent_p.L218L|LILRB1_uc002qgm.3_Silent_p.L218L|LILRB1_uc010erq.3_Silent_p.L218L|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.	218	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			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)		CCTGGAGCTCCTGGTCCTAGG	0.592000										HNSCC(37;0.09)				147			48		0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153043320	153043320	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:153043320C>T	uc003qpc.4	+	1	648	c.640C>T	c.(640-642)Cga>Tga	p.R214*		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	214						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TAACAGTCTTCGAGTGGGCCT	0.512000														45			36		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475757	140475757	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140475757C>T	uc003lil.3	+	0	1521	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	PCDHB2_uc003lim.1_Silent_p.F122F	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	461	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.L460M(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.632000														207			54		0	0	1	0	0
GPX3	2878	broad.mit.edu	37	5	150407676	150407677	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:150407676_150407677GG>AA	uc021yga.1	+	4	883_884	c.666_667GG>AA	c.(664-669)ggggtc>ggAAtc	p.V223I		NM_002084	NP_002075	P22352	GPX3_HUMAN	Homo sapiens glutathione peroxidase 3 (plasma) (GPX3), mRNA.	223					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	CAGCCCTGGGGGTCAAGAGGAA	0.564000														5			3		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488791	20488791	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:20488791C>T	uc001ytf.1	+	1		c.274C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		AGAGACCTCTCTCATGAGAAC	0.413000														113			21		0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2472296	2472296	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:2472296C>T	uc003smc.3	+	1	185	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	CHST12_uc003smd.3_Missense_Mutation_p.R8W|CHST12_uc021zyu.1_Missense_Mutation_p.R8W|CHST12_uc021zyv.1_Missense_Mutation_p.R8W	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	8					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CCGGCTGTTCCGGCTGTGGCT	0.657000														35			17		0	0	1	0	0
RASL12	51285	broad.mit.edu	37	15	65347440	65347440	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:65347440C>T	uc002aoi.1	-	4	813	c.598G>A	c.(598-600)Gag>Aag	p.E200K	RASL12_uc002aoj.1_Missense_Mutation_p.E181K|RASL12_uc010uir.1_Missense_Mutation_p.E189K	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN	Homo sapiens RAS-like, family 12 (RASL12), mRNA.	200					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GCCCTCTCCTCGGAGATGAAG	0.662000														21			12		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38655274	38655274	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:38655274G>A	uc021wvo.1	-	4	715	c.663C>T	c.(661-663)ttC>ttT	p.F221F	SCN5A_uc021wvk.1_Intron|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Intron|SCN5A_uc021wvn.1_Silent_p.F221F|SCN5A_uc021wvp.1_Intron|SCN5A_uc021wvq.1_Silent_p.F221F|SCN5A_uc021wvr.1_Silent_p.F221F|SCN5A_uc021wvs.1_Intron|SCN5A_uc021wvt.1_Intron|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Intron|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Intron|SCN5A_uc010hhl.1_Intron	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	221					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGAGGACTCGGAAGGTGCGTA	0.483000														18			7		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86702171	86702171	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:86702171G>A	uc002blz.1	+	3	344	c.264G>A	c.(262-264)atG>atA	p.M88I		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	88					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						TAGTCTCCATGGGAGCCATGC	0.443000														111			31		0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38884037	38884037	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:38884037G>A	uc003avy.4	-	11	1634	c.1531C>T	c.(1531-1533)Cgt>Tgt	p.R511C	DDX17_uc003avw.4_5'UTR|DDX17_uc003avx.4_Missense_Mutation_p.R511C	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	432					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TTGGTGCTACGGGCTGTTCGG	0.483000														129			48		0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19974856	19974856	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:19974856G>A	uc003cbl.4	-	0	851	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S	EFHB_uc003cbm.3_Missense_Mutation_p.P89S	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	219					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TGGCATTGGGGAGGTTCTATC	0.502000														86			33		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196659121	196659121	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:196659121G>A	uc002utj.4	-	56	10758	c.10657C>T	c.(10657-10659)Cga>Tga	p.R3553*	DNAH7_uc002uti.4_Nonsense_Mutation_p.R36*	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3553	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGTATGATCGAATGATATTA	0.453000														103			50		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124095411	124095411	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:124095411C>T	uc010saf.2	+	0	14	c.14C>T	c.(13-15)tCc>tTc	p.S5F		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	5						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GTTTTTCTTTCCTCCGTAGAA	0.453000														19			9		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723933	7723933	+	Silent	SNP	C	T	T	rs141193119		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:7723933C>T	uc001aoi.3	+	8	1533	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.K441N(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCCACAAGTTCGCCTTTCCCA	0.652000			T	WWTR1	epitheliod hemangioendothelioma									59			21		0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59828646	59828646	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59828646G>A	uc001nom.3	+	1	141	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	MS4A3_uc001non.3_Missense_Mutation_p.E5K|MS4A3_uc001noo.3_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	5						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GGCCTCCCACGAAGTTGATAA	0.483000														67			25		0	0	1	0	0
GNB3	2784	broad.mit.edu	37	12	6953077	6953077	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6953077G>A	uc001qrd.3	+	8	1039	c.634G>A	c.(634-636)Gat>Aat	p.D212N	GNB3_uc001qrc.3_Missense_Mutation_p.D168N|GNB3_uc009zfe.3_Missense_Mutation_p.D211N	NM_002075	NP_002066	P16520	GBB3_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 3 (GNB3), mRNA.	212					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CAAGCTCTGGGATGTGCGAGA	0.577000														77			27		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874097	36874097	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:36874097G>A	uc003cgj.3	-	20	7093	c.6845C>T	c.(6844-6846)tCc>tTc	p.S2282F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2282					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAGGTCTGTGGATTCCCGGCG	0.483000														42			19		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13901376	13901376	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13901376C>T	uc003jfd.2	-	13	2079	c.2037G>A	c.(2035-2037)agG>agA	p.R679R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	679	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)					GAAGCCACGCCCTGTGGAAGA	0.478000									Kartagener syndrome					43			16		0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247063417	247063417	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:247063417G>A	uc001ibv.2	-	9	1506	c.1409C>T	c.(1408-1410)cCt>cTt	p.P470L	AHCTF1_uc009xgs.1_5'Flank	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	461	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGGATATGAAGGAGGGACTCC	0.368000														187			61		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721269	160721269	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:160721269C>T	uc003lys.1	-	10	1576	c.1358G>A	c.(1357-1359)cGa>cAa	p.R453Q	GABRB2_uc011deh.1_Missense_Mutation_p.R254Q|GABRB2_uc003lyr.1_Missense_Mutation_p.R415Q|GABRB2_uc003lyt.1_Missense_Mutation_p.R415Q	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	453					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGAGCATTTCGGCCAAAACT	0.532000														61			29		0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68802034	68802034	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:68802034G>A	uc021xag.1	-	3	759	c.266C>T	c.(265-267)gCt>gTt	p.A89V	FAM19A4_uc021xah.1_Missense_Mutation_p.A89V	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 (FAM19A4), transcript variant 1, mRNA.	89						extracellular region		p.R88Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		AGAAGGTTGAGCCCGAGTTGT	0.517000														85			28		0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12814536	12814536	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:12814536G>A	uc002mup.3	-	16	2840	c.2378C>T	c.(2377-2379)cCc>cTc	p.P793L	TNPO2_uc002muq.3_Missense_Mutation_p.P701L|TNPO2_uc002muo.3_Missense_Mutation_p.P701L|TNPO2_uc002mur.3_Missense_Mutation_p.P701L	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	701					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.R792W(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACCGATACAGGGCTTGACATG	0.577000														9			3		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955846	51955846	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51955846C>T	uc002pwt.3	-	6	1354	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K	SIGLEC8_uc010yda.2_Silent_p.K320K|SIGLEC8_uc002pwu.3_Intron|SIGLEC8_uc010eox.2_Silent_p.K336K	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	429					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)		GGGGAGGCTTCTTCAGGGGGT	0.592000														51			8		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138414689	138414689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:138414689G>A	uc002tva.1	+	22	4244	c.4244G>A	c.(4243-4245)cGa>cAa	p.R1415Q	THSD7B_uc010zbj.1_Non-coding_Transcript	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)		AATAACGAACGAACTGTATGG	0.413000														48			16		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49654453	49654453	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:49654453C>T	uc001jgu.3	-	9	2423	c.2126G>A	c.(2125-2127)gGt>gAt	p.G709D	ARHGAP22_uc001jgs.3_Missense_Mutation_p.G603D|ARHGAP22_uc001jgt.3_Missense_Mutation_p.G693D|ARHGAP22_uc010qgl.2_Missense_Mutation_p.G650D|ARHGAP22_uc010qgm.2_Missense_Mutation_p.G699D|ARHGAP22_uc001jgv.3_Missense_Mutation_p.G391D|ARHGAP22_uc001jgr.3_Missense_Mutation_p.G410D	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	693					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCCCTGGCACCTTTTGCCCC	0.542000														85			20		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50949255	50949255	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:50949255C>T	uc002psf.2	+	11	1303	c.1252C>T	c.(1252-1254)Cgc>Tgc	p.R418C		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	418	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GGACAGGGGTCGCTATCAGGT	0.597000														20			5		0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50813813	50813813	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:50813813C>T	uc021tib.1	+	6	1499	c.1376C>T	c.(1375-1377)cCc>cTc	p.P459L	CYLD_uc002ego.3_Missense_Mutation_p.P456L|CYLD_uc010cbs.1_Missense_Mutation_p.P456L|CYLD_uc002egp.1_Missense_Mutation_p.P456L|CYLD_uc002egq.1_Missense_Mutation_p.P456L|CYLD_uc002egr.1_Missense_Mutation_p.P456L|CYLD_uc002egs.1_Missense_Mutation_p.P456L	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	459	Interaction with TRAF2.|Interaction with TRIP.				Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GAGAGTCCACCCTTGGCCATG	0.512000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					87			17		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101844953	101844953	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:101844953C>T	uc003uys.4	+	17	2536	c.2409C>T	c.(2407-2409)ccC>ccT	p.P803P	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.P792P	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	792					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGGACGCCCCCGGGCTGGACC	0.667000														39			20		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713440	222713440	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:222713440G>A	uc001hnh.1	-	3	1420	c.1362C>T	c.(1360-1362)gaC>gaT	p.D454D		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	454					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCAAAATGAGGTCAACCTCTT	0.517000														112			45		0	0	1	0	0
YIPF3	25844	broad.mit.edu	37	6	43481164	43481164	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:43481164G>A	uc003ovl.2	-	4	650	c.467C>T	c.(466-468)cCt>cTt	p.P156L	LRRC73_uc003ovk.1_5'Flank|YIPF3_uc011dvk.2_Missense_Mutation_p.P121L	NM_015388	NP_056203	Q9GZM5	YIPF3_HUMAN	Homo sapiens Yip1 domain family, member 3 (YIPF3), mRNA.	156					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CAGCATGAGAGGTCCATAGAG	0.478000														33			19		0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141325255	141325255	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:141325255C>T	uc003llx.3	-	3	4457	c.3246G>A	c.(3244-3246)gaG>gaA	p.E1082E		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	1082					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTTGGCTCCTCCGTGGCTG	0.632000														77			25		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411827	51411827	+	Missense_Mutation	SNP	T	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:51411827T>G	uc001nhi.2	-	0	622	c.569A>C	c.(568-570)tAc>tCc	p.Y190S		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GCCTATAAAGTAGGTGTCAGT	0.423000														44			15		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37346438	37346438	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:37346438G>A	uc001caz.2	-	2	482	c.347C>T	c.(346-348)tCc>tTc	p.S116F	GRIK3_uc001cba.1_Missense_Mutation_p.S116F	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	116					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ATTGGTGCAGGAGCCCTGTGA	0.632000														20			13		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26312975	26312975	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:26312975G>A	uc001isn.2	+	8	1116	c.756G>A	c.(754-756)caG>caA	p.Q252Q	MYO3A_uc009xko.1_Silent_p.Q252Q|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.Q252Q	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	252	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AACTAAGGCAGCCTGAGCTAT	0.378000														141			55		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57761270	57761270	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:57761270C>T	uc002emi.3	+	14	2234	c.2145C>T	c.(2143-2145)tcC>tcT	p.S715S	CCDC135_uc002emj.3_Silent_p.S715S|CCDC135_uc002emk.3_Silent_p.S650S	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	715						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGACCATCTCCATCTATGACA	0.557000														93			46		0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733072	56733072	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56733072G>A	uc002qmq.3	-	4	1529	c.1363C>T	c.(1363-1365)Ctg>Ttg	p.L455L	ZSCAN5A_uc010ygi.2_Silent_p.L338L|ZSCAN5A_uc002qmr.3_Silent_p.L455L|ZSCAN5A_uc002qms.1_Silent_p.L454L	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	455					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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						TGCTCCTTCAGGCTCCCCCTG	0.507000														49			19		0	0	1	0	0
CD247	919	broad.mit.edu	37	1	167407814	167407814	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167407814C>T	uc001gei.4	-	3	438	c.293G>A	c.(292-294)gGa>gAa	p.G98E	CD247_uc001gej.4_Missense_Mutation_p.G98E|CD247_uc001gek.2_Missense_Mutation_p.G98E	NM_198053	NP_932170	P20963	CD3Z_HUMAN	Homo sapiens CD247 molecule (CD247), transcript variant 1, mRNA.	98					T cell costimulation|T cell receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			TACCGGCTTTCCCCCCATCTC	0.562000														89			52		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768356	88768356	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:88768356G>A	uc001kee.2	+	11	1551	c.347G>A	c.(346-348)gGg>gAg	p.G116E	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	116					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GACACCATCGGGAGCGGCAGA	0.512000														358			139		0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729258	62729258	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:62729258C>T	uc002yic.3	+	3	756	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	OPRL1_uc002yid.3_Silent_p.L113L|OPRL1_uc021wgs.1_Silent_p.L113L|OPRL1_uc002yif.4_Silent_p.L108L	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	113					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GGACATCCTCCTGGGCTTCTG	0.532000														103			60		0	0	1	0	0
LCE3C	353144	broad.mit.edu	37	1	152573387	152573387	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152573387C>T	uc001fac.2	+	0	250	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_178434	NP_848521	Q5T5A8	LCE3C_HUMAN	Homo sapiens late cornified envelope 3C (LCE3C), mRNA.	60					keratinization					lung(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		ACAGGCACTTCAGGTCCCATC	0.642000														35			39		0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52908793	52908793	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:52908793C>T	uc001san.3	-	8	1869	c.1706G>A	c.(1705-1707)gGg>gAg	p.G569E		NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	569	Ser-rich.|Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTGCTACCCCCGCCACTGCC	0.622000														43			32		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3000169	3000169	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:3000169G>A	uc022aqr.1	-	40	6449	c.6059C>T	c.(6058-6060)tCt>tTt	p.S2020F	CSMD1_uc011kwj.2_Missense_Mutation_p.S1413F|CSMD1_uc010lrg.3_Missense_Mutation_p.S89F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2021	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGCTTCGGTAGAAAAATTCAG	0.398000														112			31		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511288	61511288	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:61511288G>A	uc002ydr.2	-	15	6332	c.6020C>T	c.(6019-6021)tCg>tTg	p.S2007L	DIDO1_uc002yds.2_Missense_Mutation_p.S2007L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	2007	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGAAATCGCGAAGGGGTCTG	0.632000														191			14		0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241812411	241812411	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241812411C>T	uc002waa.4	+	4	661	c.540C>T	c.(538-540)ctC>ctT	p.L180L	AGXT_uc010zoi.1_Silent_p.L180L	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	180					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGTGCCTGCTCCTGGTGGATT	0.657000														124			29		0	0	1	0	0
TMEM190	147744	broad.mit.edu	37	19	55889179	55889179	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55889179G>A	uc002qkt.1	+	3	248	c.230G>A	c.(229-231)cGg>cAg	p.R77Q		NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	Homo sapiens transmembrane protein 190 (TMEM190), mRNA.	77						integral to membrane				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GAAAACGTGCGGAGGAAGCAC	0.677000														47			6		0	0	1	0	0
STS	412	broad.mit.edu	37	X	7171326	7171326	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:7171326C>T	uc004cry.4	+	1	346	c.101C>T	c.(100-102)gCt>gTt	p.A34V	STS_uc004crw.2_Non-coding_Transcript|STS_uc011mhp.1_Non-coding_Transcript|STS_uc004crx.1_Non-coding_Transcript	NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	34					female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CTGGTGATGGCTGACGACCTC	0.502000									Ichthyosis					33			15		0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170688909	170688909	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:170688909G>A	uc001ghf.3	+	1	331	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	PRRX1_uc001ghe.3_Missense_Mutation_p.R95Q	NM_022716	NP_073207	P54821	PRRX1_HUMAN	Homo sapiens paired related homeobox 1 (PRRX1), transcript variant pmx-1b, mRNA.	95						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAAAGCAGCGAAGGAATAGG	0.458000														29			9		0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59373296	59373296	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:59373296C>T	uc002afv.3	+	7	2389	c.2110C>T	c.(2110-2112)Cct>Tct	p.P704S	RNF111_uc002afs.3_Missense_Mutation_p.P704S|RNF111_uc002aft.3_Missense_Mutation_p.P704S|RNF111_uc002afu.3_Missense_Mutation_p.P703S|RNF111_uc002afw.3_Missense_Mutation_p.P704S|RNF111_uc002afx.3_Missense_Mutation_p.P230S	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	704	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AACATCTCATCCTGTGGCACC	0.507000														165			22		0	0	1	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242741358	242741358	+	Silent	SNP	C	T	T	rs140456342		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:242741358C>T	uc002wcj.1	+	2	413	c.282C>T	c.(280-282)taC>taT	p.Y94Y		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA.	94					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.G93C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACCTGGGCTACCCCTGGCTCT	0.657000														49			23		0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66416266	66416266	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:66416266G>A	uc002apm.2	-	2	312	c.171C>T	c.(169-171)atC>atT	p.I57I	MEGF11_uc002apl.2_Missense_Mutation_p.S16F|MEGF11_uc002apn.1_Silent_p.I57I	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	57	EMI.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						ACCAGTTGAGGATGTCTGTGC	0.532000														92			17		0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62373637	62373637	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:62373637G>A	uc010rly.1	-	12	1862	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	EML3_uc001ntr.1_Silent_p.F490F|EML3_uc001nts.1_Silent_p.F490F|EML3_uc001ntt.1_Silent_p.F402F|EML3_uc001ntu.1_Silent_p.F518F|EML3_uc009yny.1_Silent_p.F301F			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	518						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GACACAAGGCGAAGATAGAAC	0.637000														63			31		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071252	9071252	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9071252G>A	uc002mkp.3	-	2	16398	c.16194C>T	c.(16192-16194)atC>atT	p.I5398I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5400	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						TCTCATGAGTGATGCTGCTCA	0.507000														279			124		0	0	1	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29781859	29781859	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:29781859C>T	uc003tai.3	+	10		c.961C>T								Homo sapiens dpy-19-like 2 pseudogene 3 (C. elegans) (DPY19L2P3), transcript variant 1, non-coding RNA.																		ATGCCAGGCTCGAAGATGCCA	0.468000														31			4		0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28024255	28024255	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:28024255G>A	uc001ity.4	-	3	622	c.397C>T	c.(397-399)Cga>Tga	p.R133*	MKX_uc001itx.4_Nonsense_Mutation_p.R133*	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	133					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TCTGGCTGTCGAACGGTATTC	0.368000														72			37		0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768414	121768414	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:121768414G>A	uc003pyr.3	+	1	671	c.421G>A	c.(421-423)Gag>Aag	p.E141K	GJA1_uc011ebo.1_Missense_Mutation_p.E42K|GJA1_uc011ebp.1_Intron|GJA1_uc021zel.1_Missense_Mutation_p.E141K	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	141					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CGGTATTGAAGAGCATGGTAA	0.453000														46			40		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173411	207173411	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:207173411G>A	uc002vbp.2	+	4	4409	c.4159G>A	c.(4159-4161)Gaa>Aaa	p.E1387K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1387							nucleic acid binding|zinc ion binding	p.E1387K(3)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACCTGTCAAAGAAATAAATCT	0.353000														35			21		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60887760	60887760	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:60887760T>C	uc002ycq.3	-	66	9222	c.9155A>G	c.(9154-9156)gAg>gGg	p.E3052G	LAMA5_uc021wfw.1_Missense_Mutation_p.E3052G	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3052	Laminin G-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTGTCCTGCTCCACGCTGTA	0.687000														12			3		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117609777	117609777	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:117609777C>T	uc003pxp.1	-	42	7121	c.6922G>A	c.(6922-6924)Gaa>Aaa	p.E2308K	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2308					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E2308Q(3)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCATGTGGTTCCTTCTCTTCT	0.483000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									34			28		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68617472	68617472	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:68617472G>A	uc010bib.3	-	17	2406	c.2319C>T	c.(2317-2319)gtC>gtT	p.V773V	ITGA11_uc002ari.3_Silent_p.V773V	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	773					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GATGTACCGAGACTCTGAGAG	0.622000														57			40		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19566052	19566052	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:19566052C>T	uc001vuz.1	+	5	1148	c.1096C>T	c.(1096-1098)Cta>Tta	p.L366L	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript|P712P_uc001vvb.3_Intron	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	366										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AAAACAGATGCTAAAAGTCTC	0.308000														161			12		0	0	1	0	0
CINP	51550	broad.mit.edu	37	14	102816294	102816294	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:102816294C>T	uc021sea.1	-	3	532	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	CINP_uc001ylu.1_Non-coding_Transcript|CINP_uc001ylv.1_Missense_Mutation_p.R133Q|CINP_uc021seb.1_Intron	NM_001177611	NP_001171082	Q9BW66	CINP_HUMAN	Homo sapiens cyclin-dependent kinase 2 interacting protein (CINP), transcript variant 1, mRNA.	133					DNA repair|DNA replication|cell cycle|cell division	nucleus	protein binding			large_intestine(2)|lung(2)	4						CAGAGGGGGTCGTTTACTCTC	0.413000														45			20		0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148748050	148748050	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:148748050C>T	uc003lqk.2	+	5	1380	c.1318C>T	c.(1318-1320)Cat>Tat	p.H440Y	PCYOX1L_uc003lql.2_Missense_Mutation_p.H423Y|PCYOX1L_uc010jgz.2_Missense_Mutation_p.H364Y|PCYOX1L_uc003lqm.2_Missense_Mutation_p.H322Y|PCYOX1L_uc003lqn.2_Missense_Mutation_p.H350Y	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.	440					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTGCACTCCATGACCAGCT	0.607000														78			29		0	0	1	0	0
GH1	2688	broad.mit.edu	37	17	61994690	61994690	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:61994690C>T	uc002jdj.3	-	4	695	c.633G>A	c.(631-633)gtG>gtA	p.V211V	GH1_uc002jdi.3_Silent_p.V196V|GH1_uc002jdk.3_Silent_p.V171V|GH1_uc002jdl.3_Silent_p.V116V|GH1_uc002jdm.3_3'UTR|GH1_uc002jdn.3_Nonsense_Mutation_p.W165*	NM_000515	NP_000506	P01241	SOMA_HUMAN	Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.	211					JAK-STAT cascade|glucose transport|growth hormone receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						AGCTGCCCTCCACAGAGCGGC	0.617000														41			20		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168199802	168199802	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:168199802C>T	uc010jjg.3	-	13	1863	c.1443G>A	c.(1441-1443)aaG>aaA	p.K481K	SLIT3_uc003mab.3_Silent_p.K481K|SLIT3_uc010jji.2_Silent_p.K481K|SLIT3_uc003mac.1_Silent_p.K278K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	481	LRRCT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCGGAACTTCTTGCTCTTGA	0.607000														46			15		0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143712381	143712381	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:143712381G>A	uc010fnm.3	+	5	592	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	KYNU_uc002tvk.3_Missense_Mutation_p.A126T|KYNU_uc002tvl.3_Missense_Mutation_p.A126T	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	126					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.A126T(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TTTTACAGGAGCCAATGAGAA	0.299000														68			27		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101365178	101365178	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:101365178C>T	uc010svm.1	+	5	1123	c.551C>T	c.(550-552)cCt>cTt	p.P184L	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.P149L|ANO4_uc001thx.2_Missense_Mutation_p.P184L	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	184						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						GTAAGAATGCCTTTCAGGTAG	0.373000										HNSCC(74;0.22)				72			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106725366	106725366	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:106725366C>T	uc021ser.1	-	927		c.22146G>A								Parts of antibodies, mostly variable regions.																		ACTCCAGCCCCTTCCCTGGAG	0.577000														490			51		0	0	1	0	0
EMBP1	647121	broad.mit.edu	37	1	121306489	121306489	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:121306489G>A	uc009wht.1	+	0	66	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	EMBP1_uc001eiu.1_Non-coding_Transcript					Homo sapiens embigin pseudogene 1 (EMBP1), non-coding RNA.																		ATATGCTAATGAAACAAAGCT	0.363000														49			21		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178418910	178418910	+	Missense_Mutation	SNP	C	T	T	rs17078901		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178418910C>T	uc003mjr.3	-	1	858	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	227			E -> V (in dbSNP:rs17078898).		detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ACCCCACTTTCGCCATAGTTG	0.637000														28			11		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211456679	211456679	+	Missense_Mutation	SNP	G	A	A	rs149930500		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:211456679G>A	uc010fur.3	+	10	1172	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N	CPS1_uc002vee.4_Missense_Mutation_p.D358N|CPS1_uc010fus.3_5'Flank	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	358	Glutamine amidotransferase type-1.				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			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)		GAATGTCAACGATCAAACAAA	0.378000														40			8		0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48142633	48142634	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:48142633_48142634GG>AA	uc001rpz.4	-	10	1672_1673	c.1122_1123CC>TT	c.(1120-1125)ggccct>ggTTct	p.P375S	RAPGEF3_uc010sln.2_5'Flank|RAPGEF3_uc001rpy.3_5'Flank|RAPGEF3_uc009zkp.3_Missense_Mutation_p.P333S|RAPGEF3_uc009zkq.3_Missense_Mutation_p.P333S|RAPGEF3_uc001rqa.3_5'Flank|RAPGEF3_uc009zkr.2_Non-coding_Transcript|RAPGEF3_uc009zks.2_Missense_Mutation_p.P387S	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	333					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GGTCGGGAAGGGCCGGCGCCCT	0.599000														107			41		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33578885	33578885	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:33578885G>A	uc002xbi.2	+	23	2587	c.2270G>A	c.(2269-2271)gGg>gAg	p.G757E	MIR499B_uc021wch.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	715	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGCCGCCAAGGGTTCCCCAAC	0.652000														46			17		0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85952165	85952165	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:85952165G>A	uc002fjh.3	+	6	801	c.744G>A	c.(742-744)gaG>gaA	p.E248E		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	248					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AGGGCCTGGAGCTGGTGCGCT	0.731000														34			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9002672	9002672	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9002672G>A	uc002mkp.3	-	51	40347	c.40143_splice	c.e51-1	p.R13381_splice	MUC16_uc010dwi.3_Splice_Site|MUC16_uc010dwj.3_Splice_Site_p.R198_splice|MUC16_uc021uog.1_Splice_Site	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13383	SEA 9.				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						TCCTTCTCAGGCCTAGGGAGG	0.547000														60			18		0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40564524	40564524	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:40564524C>T	uc010bbl.3	+	5	1398	c.958C>T	c.(958-960)Cct>Tct	p.P320S	PAK6_uc010bbm.3_Missense_Mutation_p.P320S|PAK6_uc001zky.4_Missense_Mutation_p.P320S|PAK6_uc010bbn.3_Missense_Mutation_p.P320S|PAK6_uc001zlb.3_Missense_Mutation_p.P320S	NM_001128628	NP_064553	Q9NQU5	PAK6_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA.	320	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GACCTTCAGCCCTCTGACCAC	0.687000														102			51		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32996178	32996178	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:32996178G>A	uc001rlj.4	-	5	1563	c.1448C>T	c.(1447-1449)aCt>aTt	p.T483I	PKP2_uc001rlk.4_Intron|PKP2_uc010skj.2_Intron	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	483					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					gcctcccaaagtgctgggatt	0.512000														13			14		0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74275217	74275217	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:74275217C>T	uc002skb.4	+	0	1768	c.1768C>T	c.(1768-1770)Ccc>Tcc	p.P590S	TET3_uc010fez.2_Missense_Mutation_p.P590S	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	590							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTTGGGCTTCCCGGCCCCCC	0.592000														41			18		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52522557	52522557	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:52522557C>T	uc003ded.4	+	15	3183	c.3049C>T	c.(3049-3051)Ccc>Tcc	p.P1017S	NISCH_uc003dee.4_Missense_Mutation_p.P506S|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1017					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CGCCAAGACCCCCGGGACGGG	0.677000														38			19		0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473805	53473805	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:53473805G>A	uc002qan.4	-	3		c.696C>T								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		AGATGTGAATGAAAGCTTGAT	0.388000														104			38		0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49674630	49674630	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:49674630C>T	uc002pmw.3	+	6	921	c.813C>T	c.(811-813)atC>atT	p.I271I	TRPM4_uc010emu.3_Silent_p.I271I|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Silent_p.I97I|TRPM4_uc010emv.3_Silent_p.I156I|TRPM4_uc010yal.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	271					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GAATTGACATCCCTGTCCTGC	0.562000														59			15		0	0	1	0	0
MED14	9282	broad.mit.edu	37	X	40551483	40551483	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:40551483G>A	uc004dex.4	-	14	2072	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F		NM_004229	NP_004220	O60244	MED14_HUMAN	Homo sapiens mediator complex subunit 14 (MED14), mRNA.	644	Interaction with SREBF1.				androgen 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|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACATAGCGACGAAGTGGGCTA	0.378000														13			28		0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3118303	3118303	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:3118303C>T	uc011ask.2	-	10	1647	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	IL5RA_uc010hbq.3_Missense_Mutation_p.E240K|IL5RA_uc010hbr.3_Missense_Mutation_p.E126K|IL5RA_uc010hbs.3_Missense_Mutation_p.E335K|IL5RA_uc011asl.2_Missense_Mutation_p.E335K|IL5RA_uc010hbp.3_Missense_Mutation_p.E46K	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	335					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GGCTTGTGTTCATCATTTCCT	0.373000														51			8		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292591	33292591	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:33292591G>A	uc001wrq.3	+	12	5742	c.5572G>A	c.(5572-5574)Gaa>Aaa	p.E1858K		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1858					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACGTGTCTCTGAAAATAATGG	0.353000														68			36		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465424	77465424	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:77465424C>T	uc002ffc.4	-	2	682	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	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.	88					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						CTGCGCCGATCGCTTTTTCCT	0.483000														278			48		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167659303	167659303	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:167659303G>A	uc001gem.3	+	3	403	c.216G>A	c.(214-216)gcG>gcA	p.A72A	RCSD1_uc010pli.2_Silent_p.A42A	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	72										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CACCCAATGCGAGCCACCCTC	0.453000														109			36		0	0	1	0	0
KPNA6	23633	broad.mit.edu	37	1	32622504	32622504	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:32622504C>T	uc010ogy.2	+	2	231	c.204C>T	c.(202-204)ttC>ttT	p.F68F	KPNA6_uc001bug.3_Silent_p.F63F|KPNA6_uc001buh.3_5'UTR|KPNA6_uc010ogx.2_Silent_p.F60F	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	63					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTGCCATGTTCGATAGTCTTC	0.453000														81			30		0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50667441	50667441	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:50667441C>T	uc002egg.2	+	9	1386	c.1162C>T	c.(1162-1164)Ccg>Tcg	p.P388S		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	388					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GGCTGCCAGCCCGGCCCTCCT	0.716000														22			4		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899021	112899021	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:112899021C>T	uc004bei.2	+	8	2085	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	PALM2-AKAP2_uc004bej.4_Silent_p.F399F|PALM2-AKAP2_uc004bek.4_Silent_p.F399F|PALM2-AKAP2_uc004bel.1_Silent_p.F209F|PALM2-AKAP2_uc011lwi.2_Silent_p.F257F|PALM2-AKAP2_uc004bem.3_Silent_p.F257F|PALM2-AKAP2_uc010mtw.1_Silent_p.F217F|PALM2-AKAP2_uc011lwj.2_Silent_p.F168F|PALM2-AKAP2_uc004ben.3_Silent_p.F168F	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	168							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ATGGAGAGTTCACTCTCACCA	0.577000														36			17		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101748012	101748012	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:101748012G>A	uc004azb.1	+	2	472	c.266G>A	c.(265-267)aGg>aAg	p.R89K		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	89	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ACCTTCTTCAGGGACTTCGCC	0.612000														57			11		0	0	1	0	0
DDB2	1643	broad.mit.edu	37	11	47256474	47256474	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:47256474C>T	uc001neb.2	+	5	1064	c.869C>T	c.(868-870)cCt>cTt	p.P290L	DDB2_uc001nec.2_Intron|DDB2_uc009yli.1_Missense_Mutation_p.P226L|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron	NM_000107	NP_000098	Q92466	DDB2_HUMAN	Homo sapiens damage-specific DNA binding protein 2, 48kDa (DDB2), mRNA.	290					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	p.P290S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						CACAGGCATCCTGTCAACGCA	0.562000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum					17			16		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26692881	26692881	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:26692881G>A	uc003acb.3	+	3	1193	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	SEZ6L_uc003acd.3_Missense_Mutation_p.E333K|SEZ6L_uc011akd.2_Missense_Mutation_p.E333K|SEZ6L_uc003ace.3_Missense_Mutation_p.E333K|SEZ6L_uc011akc.2_Missense_Mutation_p.E333K|SEZ6L_uc003acc.3_Missense_Mutation_p.E333K|SEZ6L_uc003acf.1_Missense_Mutation_p.E106K|SEZ6L_uc010gvc.1_Missense_Mutation_p.E106K	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	333	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GTCCGATGGGGAACTGCTCTC	0.582000														24			11		0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41476198	41476198	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:41476198G>A	uc010ucv.2	-	11	1922	c.1650C>T	c.(1648-1650)tcC>tcT	p.S550S	EXD1_uc001znj.3_Silent_p.S290S|EXD1_uc001znk.3_Silent_p.S492S	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	492					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						GAGGGAGTGTGGAAACCACAG	0.443000														93			35		0	0	1	0	0
FAIM2	23017	broad.mit.edu	37	12	50295006	50295006	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:50295006C>T	uc001rvj.2	-	1	303	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	FAIM2_uc001rvi.2_5'UTR	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA.	40					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						GAGGTGGCTTCCTCATAGGAG	0.667000														45			12		0	0	1	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029269	41029269	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:41029269G>A	uc003opl.3	+	1	481	c.334G>A	c.(334-336)Gac>Aac	p.D112N	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.	112					DNA demethylation|mRNA processing		RNA binding|cytidine deaminase activity|zinc ion binding	p.D112N(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCAGCCTTCGACCCAGCCCT	0.572000														166			60		0	0	1	0	0
TOX4	9878	broad.mit.edu	37	14	21945658	21945658	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:21945658C>T	uc001waz.3	+	1	113	c.10C>T	c.(10-12)Ccc>Tcc	p.P4S	RAB2B_uc010tls.2_5'Flank|RAB2B_uc010tlt.2_5'Flank|RAB2B_uc010ain.3_5'Flank|RAB2B_uc001wax.3_5'Flank|TOX4_uc001way.3_5'UTR|TOX4_uc010tlu.2_Intron	NM_014828	NP_055643	O94842	TOX4_HUMAN	Homo sapiens TOX high mobility group box family member 4 (TOX4), mRNA.	4						PTW/PP1 phosphatase complex|chromatin|nucleus	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TTTCCAGTTTCCCGGAGGAAA	0.592000											OREG0022569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		131			37		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209200558	209200558	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:209200558C>T	uc002vcz.3	+	25	4456	c.4298C>T	c.(4297-4299)tCt>tTt	p.S1433F	PIKFYVE_uc002vcy.1_Missense_Mutation_p.S1377F	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	1433					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGACTTGCATCTTTGAAAACT	0.308000														86			7		0	0	1	0	0
GP6	51206	broad.mit.edu	37	19	55543725	55543725	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:55543725G>A	uc002qik.3	-	2	135	c.107C>T	c.(106-108)tCc>tTc	p.S36F	GP6_uc002qil.3_Missense_Mutation_p.S36F|GP6_uc010esq.3_Missense_Mutation_p.S36F|RDH13_uc010esr.1_Intron	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	Homo sapiens glycoprotein VI (platelet) (GP6), transcript variant 2, mRNA.	36	Ig-like C2-type 1.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GGGCACCAGGGAGCTGGGCAG	0.697000														24			7		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553997	140553997	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140553997C>T	uc003lit.3	+	0	1755	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	527	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A526S(1)|p.A526A(1)|p.A526E(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGCGTTCGAGTTCCGCG	0.701000														106			54		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56137167	56137167	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:56137167G>A	uc002xyn.4	+	2	428	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	89					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GGCCAGGATCGAAAGCAAGAC	0.557000														40			15		0	0	1	0	0
OFCC1	266553	broad.mit.edu	37	6	9933535	9933535	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:9933535G>A	uc003myh.1	-	1	68	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	OFCC1_uc010jog.1_5'UTR|OFCC1_uc021yli.1_Non-coding_Transcript|OFCC1_uc003myj.1_Nonsense_Mutation_p.Q7*|OFCC1_uc003myk.1_Non-coding_Transcript|OFCC1_uc003myn.3_Nonsense_Mutation_p.Q7*|OFCC1_uc010joi.1_Nonsense_Mutation_p.Q75*|OFCC1_uc010joh.1_Non-coding_Transcript|OFCC1_uc011dif.1_Nonsense_Mutation_p.Q7*|OFCC1_uc011dig.1_Nonsense_Mutation_p.Q7*					SubName: Full=Uncharacterized protein;											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				GCCTTCTGCTGAAACTTCTGG	0.363000														66			17		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47280923	47280923	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:47280923G>A	uc001cqn.4	+	7	1144	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N	CYP4B1_uc009vyl.1_Missense_Mutation_p.D190N|CYP4B1_uc001cqm.4_Missense_Mutation_p.D353N|CYP4B1_uc009vym.3_Missense_Mutation_p.D339N|CYP4B1_uc010omk.2_Missense_Mutation_p.D190N	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	353			F -> C (in dbSNP:rs17102592).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					AGGGGACCAGGACTTCTTCCA	0.582000														27			13		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111964021	111964021	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:111964021G>A	uc001eba.3	-	7	836	c.780C>T	c.(778-780)atC>atT	p.I260I	OVGP1_uc001eaz.3_Silent_p.I222I|OVGP1_uc010owb.2_Intron	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	260					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	p.G259R(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CATAGGTGGGGATCCCCATGA	0.512000														97			32		0	0	1	0	0
RTF1	23168	broad.mit.edu	37	15	41769408	41769408	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:41769408C>T	uc001zny.3	+	12	1618	c.1606C>T	c.(1606-1608)Caa>Taa	p.Q536*		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA.	536					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CAAACAAATCCAAGATCAACT	0.512000														179			47		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243668	56243668	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:56243668G>A	uc002qly.3	-	1	1557	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	510						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAAACCAAAGGAGGTCTCCAG	0.443000														108			47		0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138314867	138314867	+	Splice_Site	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:138314867C>T	uc011kqh.2	-	9	790	c.790_splice	c.e9-1	p.E264_splice	SVOPL_uc003vue.3_Splice_Site_p.E112_splice	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	264						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CCTCTTTTTTCCTGGGGTAAT	0.388000														55			11		0	0	1	0	0
CD84	8832	broad.mit.edu	37	1	160520779	160520779	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:160520779C>T	uc001fwh.4	-	5	937	c.858G>A	c.(856-858)agG>agA	p.R286R	CD84_uc001fwf.4_Silent_p.R269R|CD84_uc009wtn.3_Intron|CD84_uc001fwi.4_Silent_p.R155R|CD84_uc001fwg.4_Silent_p.R280R	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	286					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GCTGGGTGTTCCTTGAAGCCA	0.443000														231			50		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6685006	6685006	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6685006G>A	uc002mfm.3	-	29	4024	c.3962C>T	c.(3961-3963)tCa>tTa	p.S1321L		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1321		Cleavage; by factor I.			G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TACCTCTTCTGATCGCAGGAG	0.597000														34			19		0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886538	57886538	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:57886538G>A	uc001nml.1	-	0	379	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R127H(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				AGTGGGTTGCGAATGGCAGCA	0.562000														56			12		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62019102	62019102	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:62019102C>T	uc002jds.1	-	23	4617	c.4540G>A	c.(4540-4542)Gat>Aat	p.D1514N		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1514					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.I1513I(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AACATATCATCGATGCCCGAC	0.547000														73			24		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178417660	178417660	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:178417660G>A	uc003mjr.3	-	3	1124	c.945C>T	c.(943-945)ccC>ccT	p.P315P	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	315					detection of visible light|visual perception	integral to plasma membrane		p.P315T(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGCTCAAGATGGGTGAGGTCT	0.667000														15			3		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71906323	71906323	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:71906323G>A	uc010fen.3	+	52	6162	c.6021G>A	c.(6019-6021)tgG>tgA	p.W2007*	DYSF_uc010fei.3_Nonsense_Mutation_p.W1985*|DYSF_uc010feh.3_Nonsense_Mutation_p.W1975*|DYSF_uc002sig.4_Nonsense_Mutation_p.W1954*|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Nonsense_Mutation_p.W1999*|DYSF_uc010fee.3_Nonsense_Mutation_p.W1989*|DYSF_uc010fef.3_Nonsense_Mutation_p.W2006*|DYSF_uc002sie.3_Nonsense_Mutation_p.W1968*|DYSF_uc010feo.3_Nonsense_Mutation_p.W2000*|DYSF_uc010fej.3_Nonsense_Mutation_p.W1976*|DYSF_uc010fel.3_Nonsense_Mutation_p.W1955*|DYSF_uc010fem.3_Nonsense_Mutation_p.W1990*|DYSF_uc002sif.3_Nonsense_Mutation_p.W1969*|DYSF_uc010fek.3_Nonsense_Mutation_p.W1986*|DYSF_uc010yqy.2_Nonsense_Mutation_p.W849*|DYSF_uc010yqz.2_Nonsense_Mutation_p.W729*	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1968						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGAAGGGCTGGTGGCCCTGTG	0.522000														48			15		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183696240	183696240	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:183696240G>A	uc003ivd.1	+	22	5313	c.5238G>A	c.(5236-5238)ttG>ttA	p.L1746L		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1746					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GTCAAAACTTGGTGGAATGGA	0.522000														61			25		0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9510422	9510422	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:9510422G>A	uc002wni.2	+	5	1293	c.798G>A	c.(796-798)caG>caA	p.Q266Q	LAMP5_uc010zrc.2_Silent_p.Q222Q	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	266						integral to membrane		p.Q266H(1)									CTGCCAACCAGGTGCAGATCC	0.547000														71			13		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86124798	86124798	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:86124798C>T	uc002blv.1	+	6	3669	c.3499C>T	c.(3499-3501)Cac>Tac	p.H1167Y	AKAP13_uc002blt.1_Missense_Mutation_p.H1167Y|AKAP13_uc002blu.1_Missense_Mutation_p.H1167Y|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1167					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGGAGCAGACCACAGCTGTAC	0.547000														55			46		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73043525	73043525	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:73043525C>T	uc004ebn.2	+	0		c.31486C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TTTTCCATCTCCTCAATCAGG	0.408000														87			42		0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71036137	71036137	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:71036137G>A	uc003xyn.1	-	20	4437	c.4275C>T	c.(4273-4275)tcC>tcT	p.S1425S	NCOA2_uc011lfb.1_Silent_p.S513S	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	1425					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GACCCATGGAGGACAGCCCTG	0.522000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									14			9		0	0	1	0	0
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48760118	48760118	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:48760118G>A	uc002xvf.3	-	1	323	c.162C>T	c.(160-162)ttC>ttT	p.F54F	TMEM189-UBE2V1_uc010zyq.1_Non-coding_Transcript|TMEM189-UBE2V1_uc002xvg.2_Silent_p.F54F|TMEM189-UBE2V1_uc010gif.2_Silent_p.F54F	NM_199203	NP_954673	A5PLL7	TM189_HUMAN	Homo sapiens TMEM189-UBE2V1 readthrough (TMEM189-UBE2V1), mRNA.	54						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			CGATGAGGCTGAAGCACAGGA	0.632000														14			11		0	0	1	0	0
SPACA3	124912	broad.mit.edu	37	17	31324017	31324017	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:31324017C>T	uc002hhs.1	+	2	575	c.500C>T	c.(499-501)tCa>tTa	p.S167L	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	167					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			ATGTACTGCTCAGGTAGCTGG	0.592000														44			28		0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27087520	27087520	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:27087520C>T	uc001bmv.1	+	4	2467	c.2094C>T	c.(2092-2094)tcC>tcT	p.S698S	ARID1A_uc001bmt.1_Silent_p.S698S|ARID1A_uc001bmu.1_Silent_p.S698S|ARID1A_uc001bmw.1_Silent_p.S315S	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	698					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTTCCCCGTCCCCTGTTGGCT	0.607000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									68			29		0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11964828	11964828	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:11964828C>T	uc010yjm.2	+	21	2892	c.2839C>T	c.(2839-2841)Ccc>Tcc	p.P947S	LPIN1_uc010yjn.2_Missense_Mutation_p.P862S|LPIN1_uc002rbt.3_Missense_Mutation_p.P862S|LPIN1_uc010yjo.2_Missense_Mutation_p.P363S	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	862					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TTCAGACTTTCCCTGTTCGGA	0.473000														62			32		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94668201	94668201	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:94668201G>A	uc001dqj.4	-	10	1411	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.R348C	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	348					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTTCTGCACGAAACATGGAA	0.408000														141			54		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10031943	10031943	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:10031943C>T	uc010uym.2	-	3	1190	c.880G>A	c.(880-882)Gac>Aac	p.D294N	GRIN2A_uc002czo.4_Missense_Mutation_p.D294N|GRIN2A_uc010uyn.2_Missense_Mutation_p.D137N|GRIN2A_uc002czr.4_Missense_Mutation_p.D294N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	294					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCAATGCCGTCCCTCACTCTC	0.572000														38			16		0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37388776	37388776	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:37388776C>T	uc003cgv.3	+	20	6925	c.6565C>T	c.(6565-6567)Cgt>Tgt	p.R2189C	GOLGA4_uc003cgw.3_Missense_Mutation_p.R2204C|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.R2070C	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	2189	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.G2188G(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TATGATGGGTCGTGAGACTAA	0.368000														96			11		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25264840	25264840	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:25264840T>A	uc010aaa.3	+	6	1113	c.780T>A	c.(778-780)taT>taA	p.Y260*	ATP12A_uc001upp.3_Nonsense_Mutation_p.Y260*	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	260					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCTGCTTCTATTCCACAACGT	0.547000														248			101		0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93090139	93090139	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:93090139C>T	uc003umv.2	-	9	1044	c.744G>A	c.(742-744)agG>agA	p.R248R	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Silent_p.R214R|CALCR_uc003umw.2_Silent_p.R214R	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	230					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TTACCGGGTCCCTTCGCACGA	0.383000														115			23		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58107029	58107029	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:58107029G>A	uc003djj.2	+	19	3090	c.2925G>A	c.(2923-2925)ggG>ggA	p.G975G	FLNB_uc010hne.2_Silent_p.G975G|FLNB_uc003djk.2_Silent_p.G975G|FLNB_uc010hnf.2_Silent_p.G975G|FLNB_uc003djl.2_Silent_p.G806G|FLNB_uc003djm.2_Silent_p.G806G	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	975					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.Q974H(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAGGCCAGGGGAAGCTGGACG	0.587000														110			46		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270553	1270553	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:1270553C>T	uc002cks.3	+	34	6869	c.6621C>T	c.(6619-6621)tcC>tcT	p.S2207S	CACNA1H_uc002ckt.3_Silent_p.S2201S|CACNA1H_uc002cku.3_Silent_p.S902S|CACNA1H_uc010brj.3_Silent_p.S918S|CACNA1H_uc002ckv.3_Silent_p.S896S	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2207					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)	CGCGGCCCTCCGCGGCAGAGG	0.716000														26			18		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7023190	7023190	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:7023190C>T	uc002knm.3	-	18	2768	c.2674G>A	c.(2674-2676)Gac>Aac	p.D892N	LAMA1_uc010wzj.2_Missense_Mutation_p.D368N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	892	Laminin EGF-like 8.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCACAGCGTCCCCATAGAAC	0.567000														22			10		0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134057256	134057256	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:134057256G>A	uc011ljd.2	-	4	655	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Silent_p.L153L|SLA_uc011lje.2_Silent_p.L170L|SLA_uc011ljf.2_Silent_p.L45L|SLA_uc011ljg.2_Intron	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	153						endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			AGGTCCTCCAGGCACTGGAAG	0.512000														50			18		0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945666	72945666	+	Silent	SNP	C	T	T	rs139591958	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:72945666C>T	uc021qna.1	+	0	462	c.462C>T	c.(460-462)gcC>gcT	p.A154A	P2RY2_uc001otk.3_Silent_p.A154A|P2RY2_uc001otj.3_Silent_p.A154A|P2RY2_uc001otl.3_Silent_p.A154A	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	154					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCCGGGTGGCCGGGGCCGTGT	0.716000														68			13		0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385791	33385791	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:33385791C>T	uc003zst.3	-	6	771	c.599G>A	c.(598-600)gGa>gAa	p.G200E	AQP7_uc003zsu.1_Missense_Mutation_p.G143E|AQP7_uc010mjs.2_Missense_Mutation_p.G108E|AQP7_uc010mjt.2_Missense_Mutation_p.G108E|AQP7_uc011lny.1_Missense_Mutation_p.G199E|AQP7_uc003zss.3_Missense_Mutation_p.G108E|AQP7_uc011lnz.1_Missense_Mutation_p.G108E|AQP7_uc011loa.1_Silent_p.R68R|AQP7_uc011lnx.1_Missense_Mutation_p.G200E	NM_001170	NP_001161	O14520	AQP7_HUMAN	Homo sapiens aquaporin 7 (AQP7), mRNA.	200					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CGCCTCTGTTCCTGGCAGTGC	0.617000														74			13		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95941690	95941690	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:95941690G>A	uc002suk.3	+	2	440	c.307G>A	c.(307-309)Gag>Aag	p.E103K	PROM2_uc002suh.2_Missense_Mutation_p.E103K|PROM2_uc002sui.3_Missense_Mutation_p.E103K|PROM2_uc002suj.3_5'UTR|PROM2_uc002sul.3_5'UTR	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	103						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGTGCGGTACGAGGCGGGCTA	0.687000														12			4		0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99851719	99851719	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:99851719G>A	uc003ppo.4	-	9	1370	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	PNISR_uc021zdd.1_5'Flank|PNISR_uc003ppp.4_Missense_Mutation_p.S381F|PNISR_uc011eag.2_Missense_Mutation_p.S381F	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.	381						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TCCAGTGAGGGAAGCCAGTGC	0.428000														23			10		0	0	1	0	0
OR7C1	26664	broad.mit.edu	37	19	14910370	14910370	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:14910370G>A	uc010xnz.2	-	0	579	c.579C>T	c.(577-579)ttC>ttT	p.F193F		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	193					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CGTTATTAATGAAGGTGTCAG	0.398000														148			14		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409573	130409573	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:130409573C>T	uc004ewe.4	-	15	3361	c.3078G>A	c.(3076-3078)ggG>ggA	p.G1026G	IGSF1_uc004ewd.3_Silent_p.G1021G|IGSF1_uc022cdv.1_Silent_p.G1012G|IGSF1_uc004ewf.2_Silent_p.G1001G	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1021	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGGGGAATGCCCCGTCATTAC	0.522000														42			10		0	0	1	0	0
CSDA	8531	broad.mit.edu	37	12	10856655	10856655	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:10856655G>A	uc001qyt.3	-	6	1116	c.873C>T	c.(871-873)taC>taT	p.Y291Y	CSDA_uc001qyu.3_Silent_p.Y222Y	NM_003651	NP_003642	P16989	DBPA_HUMAN	Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA.	291					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	19	Glioma(1;0.155)					CATACCTACGGTACCTTGGGC	0.478000														73			11		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515802	140515802	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:140515802C>T	uc003liq.3	+	0	1003	c.786C>T	c.(784-786)gtC>gtT	p.V262V		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	262	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTTAGTTGTCGTTGTCTCCG	0.453000														258			130		0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153314127	153314127	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:153314127G>A	uc001fbo.3	-	5	666	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	PGLYRP4_uc001fbp.3_Missense_Mutation_p.R197W	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	201					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTTCTGCCGAGGGGCCAGG	0.542000														114			39		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85985238	85985238	+	Silent	SNP	G	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:85985238G>T	uc010qmc.2	-	0	47	c.39C>A	c.(37-39)gtC>gtA	p.V13V	LRIT2_uc001kcy.3_Silent_p.V13V	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	13						integral to membrane		p.V13I(1)|p.V13A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TATCCAGAAAGACCAGAACTA	0.478000														34			13		3.27435e-08	3.28373e-08	1	1	0
KIF26A	26153	broad.mit.edu	37	14	104638985	104638985	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:104638985C>T	uc001yos.4	+	6	1400	c.1400C>T	c.(1399-1401)tCc>tTc	p.S467F		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	467	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGCATTTTTTCCTTTGGCCAC	0.632000														29			19		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7334968	7334968	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:7334968C>T	uc001mfe.3	+	2	1077	c.840C>T	c.(838-840)acC>acT	p.T280T	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	280	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ACAGAAAGACCCTGAACCCTG	0.438000														278			27		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71012625	71012625	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:71012625C>T	uc003pfg.4	-	0	162	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	1					axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGCAGGTCTTCATTTTCCCAG	0.502000														120			74		0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136062736	136062737	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:136062736_136062737GG>AC	uc003era.1	-	29	3675_3676	c.3383_3384CC>GT	c.(3382-3384)ccc>cGT	p.P1128R	STAG1_uc003erb.1_Missense_Mutation_p.P1128R	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	1128					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GGTCTCCCATGGGCCGACTGTT	0.465000														84			26		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61414214	61414215	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61414214_61414215GG>AA	uc010qig.1	-	4	1018_1019	c.569_570CC>TT	c.(568-570)ccc>cTT	p.P190L		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	190					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						AAGATTGGAGGGGTCTCATCAG	0.406000														112			43		0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30827849	30827849	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:30827849C>T	uc003cep.2	-	12	1347	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K		NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	434					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TCACTTACTTCCATCAGTAAC	0.299000														47			25		0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125599088	125599088	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:125599088C>T	uc001uhc.3	+	8	1187	c.981C>T	c.(979-981)ctC>ctT	p.L327L	AACS_uc001uhd.3_Silent_p.L327L|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	327					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GTGACATCCTCCTGTGCTACA	0.602000														31			8		0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37467050	37467050	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr22:37467050G>A	uc003aqt.1	-	13	1640	c.1578C>T	c.(1576-1578)acC>acT	p.T526T	TMPRSS6_uc003aqs.1_Silent_p.T535T	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	535	LDL-receptor class A 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACACTGGAAGGTGAATGTCC	0.637000														35			15		0	0	1	0	0
RHOU	58480	broad.mit.edu	37	1	228879409	228879409	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:228879409G>A	uc001htf.3	+	2	1365	c.699G>A	c.(697-699)aaG>aaA	p.K233K	RHOU_uc021pkj.1_Non-coding_Transcript	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	Homo sapiens ras homolog gene family, member U (RHOU), transcript variant 1, mRNA.	233					regulation of small GTPase mediated signal transduction	Golgi membrane|cell projection|cytosol|focal adhesion|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				AACAGCCAAAGAAGTCTAAAA	0.458000														88			31		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501775	90501775	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:90501775G>A	uc004app.4	+	3	2408	c.2373G>A	c.(2371-2373)atG>atA	p.M791I	FAM75E1_uc004apo.1_Missense_Mutation_p.M603I	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	791						integral to membrane											CCTGGCTCATGGCCAAATGTG	0.572000														57			12		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234106900	234106900	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:234106900C>T	uc010zmo.2	+	23	2919	c.2766C>T	c.(2764-2766)tcC>tcT	p.S922S	INPP5D_uc010zmp.2_Silent_p.S921S	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	951	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)		CCAAGGACTCCCCGCTGGGGC	0.647000														59			19		0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87557009	87557009	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:87557009C>T	uc003ydv.2	+	8	837	c.675C>T	c.(673-675)ctC>ctT	p.L225L	CPNE3_uc003ydw.1_5'Flank	NM_003909	NP_003900	O75131	CPNE3_HUMAN	Homo sapiens copine III (CPNE3), mRNA.	225	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CACATGATCTCATTGGAACAT	0.308000														104			48		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753547	13753547	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13753547G>A	uc003jfd.2	-	62	10709	c.10667C>T	c.(10666-10668)cCa>cTa	p.P3556L	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3556					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)					CTTTCCAAATGGAATTTTCCG	0.398000									Kartagener syndrome					116			44		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65239996	65239996	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:65239996G>A	uc001xht.3	-	23	5171	c.5120C>T	c.(5119-5121)tCa>tTa	p.S1707L	SPTB_uc001xhr.3_Missense_Mutation_p.S1707L|SPTB_uc001xhs.3_Missense_Mutation_p.S1707L|SPTB_uc001xhu.3_Missense_Mutation_p.S1707L|SPTB_uc010aqi.3_Missense_Mutation_p.S368L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1707					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCCTTTTCTGAAATCCACTG	0.547000														62			24		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933565	94933565	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:94933565C>T	uc001ydf.3	-	2	998	c.837G>A	c.(835-837)atG>atA	p.M279I	SERPINA9_uc001yde.3_Missense_Mutation_p.M179I|SERPINA9_uc010avc.3_Missense_Mutation_p.M130I|SERPINA9_uc001ydg.3_Missense_Mutation_p.M243I|SERPINA9_uc001ydh.1_Missense_Mutation_p.M279I|SERPINA9_uc001ydi.1_Missense_Mutation_p.M243I	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.	261					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)		CCTTGTAATCCATCTGCAGCA	0.537000														45			17		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102495982	102495982	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:102495982G>A	uc001phc.3	-	0	82	c.69C>T	c.(67-69)gcC>gcT	p.A23A		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	23					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CTAGGGAGGGGGCTGCAGTGG	0.532000														73			11		0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72423500	72423500	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:72423500G>A	uc001osu.3	-	5	1050	c.861C>T	c.(859-861)gcC>gcT	p.A287A	ARAP1_uc001osv.3_Silent_p.A287A|ARAP1_uc001osr.3_Silent_p.A47A|ARAP1_uc001oss.3_Silent_p.A42A|ARAP1_uc009yth.3_Silent_p.A42A|ARAP1_uc010rre.2_Silent_p.A42A	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	287					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CGCCCTCATAGGCGTGGTCAT	0.687000														86			58		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6181520	6181520	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:6181520G>A	uc001qnn.1	-	8	1336	c.1086C>T	c.(1084-1086)tcC>tcT	p.S362S	VWF_uc010set.1_Silent_p.S362S	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	362					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCGAGAGAGGGAGGTGCCGG	0.657000														44			20		0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22389807	22389807	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:22389807G>A	uc003gqm.1	-	18	3752	c.3487C>T	c.(3487-3489)Cga>Tga	p.R1163*	GPR125_uc010ieo.1_Nonsense_Mutation_p.R1019*|GPR125_uc003gql.1_Nonsense_Mutation_p.R290*	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	1163					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ACATTTGTTCGAAACTGAACT	0.448000														60			26		0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241815373	241815373	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:241815373C>T	uc002waa.4	+	7	919	c.798C>T	c.(796-798)gtC>gtT	p.V266V	AGXT_uc002wab.4_5'Flank	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	266					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAATCCCCGTCATCAGCCTGT	0.617000														43			4		0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46935494	46935494	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:46935494G>A	uc003cqm.3	+	3	376	c.173G>A	c.(172-174)aGg>aAg	p.R58K	PTH1R_uc021wxg.1_Missense_Mutation_p.R58K	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	58						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GTCCTGCAGAGGCCAGGTGGG	0.597000														31			5		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72520464	72520464	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:72520464C>T	uc001jrg.3	+	21	3536	c.3536C>T	c.(3535-3537)tCc>tTc	p.S1179F	ADAMTS14_uc001jrh.3_Missense_Mutation_p.S1176F	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	1176	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCTGGAGCATCCTGGAGCATC	0.632000														54			22		0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39542580	39542580	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:39542580G>A	uc001uwx.3	-	5	746	c.608C>T	c.(607-609)tCc>tTc	p.S203F	STOML3_uc010tez.2_Missense_Mutation_p.S194F	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	203						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)		GGCTGCCATGGATCTCTGCAA	0.557000														103			40		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21789388	21789388	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:21789388C>T	uc003svc.3	+	53	8818	c.8787C>T	c.(8785-8787)ttC>ttT	p.F2929F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2929	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATGAGAGCTTCCTCGTGCTGA	0.438000									Kartagener syndrome					45			20		0	0	1	0	0
OR4F17	81099	broad.mit.edu	37	19	110706	110706	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:110706C>T	uc002loc.1	+	0	28	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F	OR4F17_uc002lob.1_Missense_Mutation_p.L10F	NM_001005240	NP_001005240	Q8NGA8	O4F17_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 17 (OR4F17), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(2)	2		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)		TTTTCTGGGTCTCTCTGATTC	0.393000														507			69		0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124371873	124371873	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:124371873G>A	uc003yqh.4	-	9	1318	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*	ATAD2_uc011lii.2_Nonsense_Mutation_p.R195*|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Nonsense_Mutation_p.R404*	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATTTTCATTCGATCTTTATAA	0.353000														60			13		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110821999	110821999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:110821999C>T	uc001vqw.4	-	42	3975	c.3853G>A	c.(3853-3855)Gac>Aac	p.D1285N		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1285	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AATCCAGGGTCTCCCTTGGGC	0.498000														120			8		0	0	1	0	0
VSIG10	54621	broad.mit.edu	37	12	118511610	118511610	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:118511610G>A	uc001tws.3	-	4	1447	c.1113C>T	c.(1111-1113)acC>acT	p.T371T		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	371	Ig-like C2-type 4.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GGATAGTGAGGGTGGAGTTCT	0.587000														43			7		0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27789904	27789904	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:27789904C>T	uc002dow.3	+	27	4835	c.4811C>T	c.(4810-4812)cCc>cTc	p.P1604L	KIAA0556_uc010vco.2_Missense_Mutation_p.P106L	NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	1604								p.R1603H(1)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCCTTACGTCCCAAAACCTGC	0.597000														102			25		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580687	82580687	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82580687C>T	uc003uhx.2	-	5	9506	c.9217G>A	c.(9217-9219)Gga>Aga	p.G3073R	PCLO_uc003uhv.2_Missense_Mutation_p.G3073R|PCLO_uc010lec.3_Missense_Mutation_p.G38R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3004					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						TACTGGGGTCCTGGTGGTGGT	0.463000														8			5		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595399	82595399	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:82595399G>A	uc003uhx.2	-	3	3994	c.3705C>T	c.(3703-3705)ctC>ctT	p.L1235L	PCLO_uc003uhv.2_Silent_p.L1235L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1174					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						TTTCTTCTAGGAGTGGCTTTT	0.388000														281			94		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723410	58723410	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:58723410C>T	uc001nnh.2	+	6	962	c.912C>T	c.(910-912)tcC>tcT	p.S304S	GLYATL1_uc001nnf.3_Silent_p.S273S|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Silent_p.S273S|GLYATL1_uc001nnj.2_Silent_p.S273S	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	273						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	ATGAAGACTCCCGCAGATTTG	0.453000														77			21		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564372	176564372	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:176564372G>A	uc001gkz.3	+	2	2796	c.1632G>A	c.(1630-1632)gaG>gaA	p.E544E	PAPPA2_uc001gky.1_Silent_p.E544E|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	544	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGAGTGAGGAGCAGATTC	0.562000														39			10		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5860039	5860039	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:5860039G>A	uc001qnm.2	-	10	1213	c.1141C>T	c.(1141-1143)Ctt>Ttt	p.L381F		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	386						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CATCCATAAAGAAACACAATC	0.353000														21			10		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5036231	5036231	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:5036231G>A	uc002gau.1	+	12	2452	c.222G>A	c.(220-222)acG>acA	p.T74T	USP6_uc002gav.1_Silent_p.T74T|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.3_Silent_p.T135T|DQ594352_uc021toh.1_5'Flank|DQ586040_uc002gay.1_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	74					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGACACGAACGAGCAAGTGGA	0.527000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									179			19		0	0	1	0	0
ATP1B4	23439	broad.mit.edu	37	X	119500593	119500593	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:119500593C>T	uc004esr.3	+	1	361	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	ATP1B4_uc004esq.3_Silent_p.L93L|ATP1B4_uc011mtx.2_Intron|ATP1B4_uc011mty.2_Silent_p.L93L	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA.	93					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						GAGTGAATACCTGTGGGATCC	0.502000														13			20		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158224974	158224974	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:158224974G>A	uc001frt.3	+	1	692	c.159G>A	c.(157-159)caG>caA	p.Q53Q	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	53					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GTGATTTGCAGACTCATACCT	0.498000														78			20		0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113416991	113416991	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:113416991C>T	uc002tib.3	+	7	1798	c.1259C>T	c.(1258-1260)tCc>tTc	p.S420F	SLC20A1_uc002tic.1_Missense_Mutation_p.S232F	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	420					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGCTATACTTCCTATACCATG	0.463000														80			31		0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51464870	51464871	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:51464870_51464871CC>TT	uc001wyx.4	-	6	2265_2266	c.1500_1501GG>AA	c.(1498-1503)gtggat>gtAAat	p.D501N	TRIM9_uc001wyy.2_Missense_Mutation_p.D497N|TRIM9_uc001wyz.4_Missense_Mutation_p.D501N	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	501	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TGAAGACCATCCACAGTGCACA	0.550000														67			21		0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59423479	59423479	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:59423479G>A	uc001noe.4	-	6	906	c.763C>T	c.(763-765)Cct>Tct	p.P255S	PATL1_uc009yms.1_Intron|PATL1_uc010rkw.2_Intron	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	255	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						AGAACAGGAGGAACACTAGGA	0.428000														13			5		0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68810254	68810254	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:68810254C>T	uc003hdr.1	-	2	356	c.235G>A	c.(235-237)Gag>Aag	p.E79K	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.E79K	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	79	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCGGTCGTCTCTCGTAAGTCC	0.338000														111			45		0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151400307	151400307	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:151400307G>A	uc001eyd.2	-	6	1385	c.1070C>T	c.(1069-1071)tCa>tTa	p.S357L	POGZ_uc021oyq.1_Missense_Mutation_p.S304L|POGZ_uc010pdb.2_Missense_Mutation_p.S348L|POGZ_uc010pdc.2_Missense_Mutation_p.S295L|POGZ_uc009wmv.2_Missense_Mutation_p.S262L|POGZ_uc001eyf.2_Missense_Mutation_p.S304L|POGZ_uc010pdd.2_Intron|POGZ_uc001eyg.2_Missense_Mutation_p.S357L	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	357					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACCTTTCATTGAAGACTCAGG	0.448000														27			6		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133760622	133760622	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:133760622C>T	uc004bzw.3	+	10	2948	c.2945C>T	c.(2944-2946)cCc>cTc	p.P982L	ABL1_uc004bzv.3_Missense_Mutation_p.P1001L	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	982	F-actin-binding.|Pro-rich.			P -> PL (in Ref. 1; AAA51561).	DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GCCCCCGTTCCCTCCACGTTG	0.652000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									105			13		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21102957	21102957	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:21102957C>T	uc001iqi.3	-	22	2654	c.2257G>A	c.(2257-2259)Gac>Aac	p.D753N	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	753					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTTTATGGTCCTGGGTATAT	0.328000														64			15		0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149652720	149652720	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149652720C>T	uc003lru.2	-	1	280	c.65G>A	c.(64-66)gGa>gAa	p.G22E	CAMK2A_uc003lrt.2_Missense_Mutation_p.G22E|CAMK2A_uc010jhe.2_Missense_Mutation_p.G22E	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	22	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAGAAGGCTCCCCTAGGAGG	0.567000														69			14		0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7254675	7254675	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7254675G>A	uc001qsn.3	-	2	402	c.309C>T	c.(307-309)ttC>ttT	p.F103F	C1RL_uc009zft.3_Silent_p.F103F|C1RL_uc001qso.2_Silent_p.F103F	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	103	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCGAACCGACGAATGAGATCT	0.607000														111			53		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6916364	6916364	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:6916364G>A	uc002mfw.3	+	11	1443	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	EMR1_uc010dvc.3_Missense_Mutation_p.E469K|EMR1_uc010dvb.3_Missense_Mutation_p.E417K|EMR1_uc010xji.2_Missense_Mutation_p.E328K|EMR1_uc010xjj.2_Missense_Mutation_p.E292K	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	469	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)					CACAATTGAGGAATCTGAATC	0.438000														111			38		0	0	1	0	0
KIAA1586	57691	broad.mit.edu	37	6	56918271	56918271	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:56918271C>T	uc003pdj.3	+	3	1144	c.974C>T	c.(973-975)tCa>tTa	p.S325L	KIAA1586_uc011dxm.2_Missense_Mutation_p.S298L	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	Homo sapiens KIAA1586 (KIAA1586), mRNA.	325							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCTACAGTTTCAAAGAAAACC	0.338000														139			45		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833477	61833477	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:61833477C>T	uc001jky.3	-	36	7500	c.7162G>A	c.(7162-7164)Gaa>Aaa	p.E2388K	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.	2388					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						TGACCCTGTTCCTCTGAACAA	0.398000														32			79		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903019	5903019	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:5903019G>A	uc002wmg.3	+	3	535	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	CHGB_uc010zqz.2_Intron	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	77						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AACTGAAAATGAAAACACAAA	0.458000														68			29		0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7249425	7249425	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:7249425G>A	uc001qsn.3	-	5	1119	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L	C1RL_uc009zft.3_3'UTR	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	342	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCAGCTCCAGGAGGGCGATGT	0.602000														42			22		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46806723	46806723	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:46806723C>T	uc011dwh.1	+	12	2183	c.2175C>T	c.(2173-2175)atC>atT	p.I725I	MEP1A_uc010jzh.1_Silent_p.I697I|MEP1A_uc011dwg.1_Silent_p.I419I|MEP1A_uc011dwi.1_Silent_p.I597I	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	697					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCAGGTGCATCTCTGGACATG	0.572000														139			58		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18456703	18456703	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:18456703G>A	uc003cbh.3	-	4	2274	c.539C>T	c.(538-540)cCt>cTt	p.P180L	SATB1_uc003cbi.3_Missense_Mutation_p.P180L|SATB1_uc003cbj.3_Missense_Mutation_p.P180L	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	180	PDZ-like dimerization domain.				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						TTGTTCGGGAGGCAAGTCTTC	0.453000														54			27		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96909112	96909112	+	Missense_Mutation	SNP	G	A	A	rs112200493		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:96909112G>A	uc001yfn.2	+	6	780	c.736G>A	c.(736-738)Gga>Aga	p.G246R		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	246					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)		TTTTGGCGATGGAACAAATGT	0.423000														137			60		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159618524	159618524	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:159618524C>T	uc010kjv.3	+	1	371	c.171C>T	c.(169-171)gtC>gtT	p.V57V	FNDC1_uc010kjw.1_Silent_p.V5V	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	57	Fibronectin type-III 1.					extracellular region		p.V57D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCTGAAAGTCACGTGGGACC	0.453000														95			21		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881775	69881775	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:69881775G>A	uc001jnm.4	+	2	765	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	MYPN_uc001jnl.1_Missense_Mutation_p.E194K|MYPN_uc001jnn.4_Intron|MYPN_uc001jno.4_Missense_Mutation_p.E194K|MYPN_uc001jnp.1_Missense_Mutation_p.E194K|MYPN_uc009xps.3_Missense_Mutation_p.E194K|MYPN_uc009xpt.3_Missense_Mutation_p.E194K|MYPN_uc010qit.2_5'UTR|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	194	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGTTATGCAGGAAAACAGCTC	0.448000														74			21		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105833949	105833949	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:105833949C>T	uc001kxr.3	-	5	541	c.372G>A	c.(370-372)aaG>aaA	p.K124K	COL17A1_uc010qqv.1_Intron|COL17A1_uc009xxp.1_Silent_p.K124K	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	124	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.K124M(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TACCAAATTCCTTCCGAGGGT	0.488000														117			52		0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133389993	133389993	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:133389993G>A	uc001ukz.1	-	3	978	c.419C>T	c.(418-420)tCt>tTt	p.S140F	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.S140F|GOLGA3_uc001ulb.3_Missense_Mutation_p.S140F	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	140	Interaction with GOPC.	Cleavage; by caspase-3.			intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGGCAGGGGAGAATCTGTAGA	0.512000														19			15		0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108919251	108919251	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:108919251G>A	uc001tmz.1	-	16	2741	c.2506C>T	c.(2506-2508)Cgg>Tgg	p.R836W	SART3_uc001tmy.1_Missense_Mutation_p.R362W|SART3_uc009zux.1_Missense_Mutation_p.R448W|SART3_uc010swx.1_Missense_Mutation_p.R800W	NM_014706	NP_055521	Q15020	SART3_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells 3 (SART3), mRNA.	836	RRM 2.				RNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTGCCAGCCCGGTTGGTGACC	0.493000									Porokeratosis					46			23		0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582494	180582494	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:180582494C>T	uc011dhj.2	+	0	552	c.552C>T	c.(550-552)tcC>tcT	p.S184S		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATGCTATCCTTGTTGAAGC	0.463000														231			54		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8418949	8418949	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:8418949G>A	uc001ape.3	-	20	4456	c.3646C>T	c.(3646-3648)Cgc>Tgc	p.R1216C	RERE_uc001apf.3_Missense_Mutation_p.R1216C|RERE_uc001apd.3_Missense_Mutation_p.R662C	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1216					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1216C(2)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TCACTGAGGCGACCTTCATGC	0.642000														69			52		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13794146	13794146	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:13794146C>T	uc003jfd.2	-	47	7951	c.7909G>A	c.(7909-7911)Gat>Aat	p.D2637N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2637	AAA 3 (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)					ATTCGTTTATCCACATAGCTC	0.358000									Kartagener syndrome					52			16		0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2740316	2740316	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:2740316C>T	uc003smr.1	+	1	592	c.231C>T	c.(229-231)ttC>ttT	p.F77F	AMZ1_uc003sms.1_Silent_p.F77F|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	77							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCGAGGACTTCCAGACCTTCC	0.667000														109			28		0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44587924	44587924	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr20:44587924G>A	uc002xqw.3	-	14	2292	c.2169C>T	c.(2167-2169)ttC>ttT	p.F723F	ZNF335_uc010zxk.2_Silent_p.F568F	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	723					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCAGAGAGAAGAAGGGGCGAC	0.657000														79			5		0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85973846	85973846	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:85973846C>T	uc001kcv.3	+	16	2154	c.2049C>T	c.(2047-2049)tcC>tcT	p.S683S	CDHR1_uc001kcw.3_Intron|CDHR1_uc009xst.3_Silent_p.S387S|CDHR1_uc001kcx.3_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	683	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity	p.L682L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AGACCCTCTCCCGGAGCCCCA	0.582000														89			41		0	0	1	0	0
LIAS	11019	broad.mit.edu	37	4	39469178	39469178	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:39469178C>T	uc003guf.3	+	6	722	c.649C>T	c.(649-651)Cga>Tga	p.R217*	LIAS_uc003gug.3_Nonsense_Mutation_p.R217*	NM_006859	NP_006850	O43766	LIAS_HUMAN	Homo sapiens lipoic acid synthetase (LIAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	217					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	TCCTGATTTTCGAGGTGATCT	0.393000														98			47		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943624	9943624	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:9943624G>A	uc010uym.2	-	5	1627	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	GRIN2A_uc002czo.4_Silent_p.F439F|GRIN2A_uc010uyn.2_Silent_p.F282F|GRIN2A_uc002czr.4_Silent_p.F439F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	439					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGATTTTGACGAACTTCCGAC	0.502000														74			30		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42173354	42173354	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:42173354G>A	uc001zos.3	-	12	2764	c.2431C>T	c.(2431-2433)Cct>Tct	p.P811S		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	846					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCATCCCCAGGGCCAGGGTGG	0.602000														33			23		0	0	1	0	0
LOC729264	729264	broad.mit.edu	37	16	32264999	32264999	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:32264999C>T	uc021tgy.1	+	0	350	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	LOC729264_uc002ecy.3_Non-coding_Transcript	NM_001243722	NP_001230651	Q9ULZ0	T53G3_HUMAN	Homo sapiens TP53-target gene 3 protein-like (LOC729264), mRNA.	109						cytoplasm|nucleus											AACAAAGGGTCGGTGGCCTCT	0.572000														100			20		0	0	1	0	0
HIATL1	84641	broad.mit.edu	37	9	97191504	97191504	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:97191504C>T	uc004aur.3	+	2	507	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F	HIATL1_uc011luh.2_Missense_Mutation_p.L15F	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	Homo sapiens hippocampus abundant transcript-like 1 (HIATL1), mRNA.	80					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				ACACACATTCCTCATGAATGG	0.318000														23			9		0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47405691	47405691	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47405691G>A	uc003gxh.3	+	6	1172	c.798G>A	c.(796-798)tgG>tgA	p.W266*	GABRB1_uc011bze.2_Nonsense_Mutation_p.W196*	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	266					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGTCTTTTTGGATCAACTATG	0.383000														72			12		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142625942	142625942	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:142625942G>A	uc003wby.1	-	5	870	c.606C>T	c.(604-606)atC>atT	p.I202I	TRPV5_uc003wbz.3_Silent_p.I202I	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	202					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGAGGATGAGGATGTGTAATA	0.562000														113			27		0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60107264	60107264	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:60107264G>A	uc002izo.3	-	6	1197	c.1120C>T	c.(1120-1122)Cat>Tat	p.H374Y	MED13_uc002izp.3_5'UTR	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	374					androgen 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|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCACCACATGATTTGCTAAT	0.373000														101			20		0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71128715	71128715	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:71128715C>T	uc002ass.3	-	1	401	c.330G>A	c.(328-330)gaG>gaA	p.E110E		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	110	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AGGCGTCCTTCTCCAGGTTTT	0.483000														107			90		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851538	14851538	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:14851538C>T	uc010dlo.2	+	35	3418	c.3238C>T	c.(3238-3240)Ctc>Ttc	p.L1080F	ANKRD30B_uc021uhy.1_Missense_Mutation_p.L1080F|ANKRD30B_uc010xal.1_Missense_Mutation_p.L222F	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1165										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGAAAATGATCTCTTTCATGA	0.308000														13			9		0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68780337	68780337	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:68780337C>T	uc003hdr.1	-	8	1194	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.G355E	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	358	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TTCCATATATCCGGCACAGAA	0.368000														129			53		0	0	1	0	0
PLA2G2E	30814	broad.mit.edu	37	1	20249129	20249129	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:20249129G>A	uc001bct.1	-	1	218	c.160C>T	c.(160-162)Ccg>Tcg	p.P54S		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	Homo sapiens phospholipase A2, group IIE (PLA2G2E), mRNA.	54					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	p.P54S(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTCCACCGGCCAGTGGGAG	0.612000														89			6		0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75319244	75319244	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:75319244C>T	uc001owu.3	-	1	1094	c.1029G>A	c.(1027-1029)gaG>gaA	p.E343E	MAP6_uc001owv.3_Silent_p.E343E	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	343						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GCTTGCTGGCCTCTCCTTTGA	0.498000														99			10		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662102	99662102	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:99662102C>T	uc010nmz.3	-	0	3170	c.1494G>A	c.(1492-1494)cgG>cgA	p.R498R	PCDH19_uc004efw.4_Silent_p.R498R|PCDH19_uc004efx.4_Silent_p.R498R	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	498	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CAGGCATGTCCCGCACCTGCG	0.582000														54			8		0	0	1	0	0
TRIM16L	147166	broad.mit.edu	37	17	18638769	18638769	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:18638769C>T	uc010cqg.1	+	6	1383	c.1349C>T	c.(1348-1350)cCc>cTc	p.P450L	TRIM16L_uc010vyf.1_Missense_Mutation_p.P402L|TRIM16L_uc002gug.1_Missense_Mutation_p.P348L|TRIM16L_uc002guh.1_Missense_Mutation_p.P348L|TRIM16L_uc002gui.1_Missense_Mutation_p.P348L|TRIM16L_uc010vyg.1_Missense_Mutation_p.P348L|TRIM16L_uc010vyh.1_3'UTR	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	Homo sapiens tripartite motif containing 16-like (TRIM16L), mRNA.	348						cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						GGGACTGCTCCCTAGACTCCA	0.522000														17			5		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151509257	151509257	+	Silent	SNP	G	A	A	rs146901365		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:151509257G>A	uc010ipj.3	-	40	6550	c.6306C>T	c.(6304-6306)tcC>tcT	p.S2102S	LRBA_uc003ilt.4_Silent_p.S750S|LRBA_uc003ilu.4_Silent_p.S2091S	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2102						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AATAGAGTTCGGAGGAGGTGA	0.468000														199			20		0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309077	248309077	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:248309077C>T	uc010pze.2	+	0	628	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F209F(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GATTGTTTTTCCTGTTGCAAT	0.418000														344			72		0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88910190	88910190	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:88910190G>A	uc001tav.3	-	4	636	c.441C>T	c.(439-441)tcC>tcT	p.S147S	KITLG_uc009zsn.3_Intron|KITLG_uc001taw.3_Silent_p.S147S|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	147					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						AGGCATCAATGGATCTATTAA	0.358000									Testicular Cancer, Familial Clustering of					73			22		0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27256866	27256866	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:27256866C>T	uc001uqv.3	+	8	1331	c.1106C>T	c.(1105-1107)cCc>cTc	p.P369L	WASF3_uc001uqw.3_Missense_Mutation_p.P366L	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	369					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCATGCAGCCCCCGTTCCCT	0.662000														126			8		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39247056	39247057	+	Missense_Mutation	DNP	CC	TT	TT	rs142566948		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:39247056_39247057CC>TT	uc003thb.2	+	4	491_492	c.348_349CC>TT	c.(346-351)gccctc>gcTTtc	p.L117F	POU6F2_uc022acb.1_Missense_Mutation_p.L117F|POU6F2_uc010kxo.3_Missense_Mutation_p.L109F	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	117					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCCCCCCAGCCCTCAACCAGCC	0.574000														157			58		0	0	1	0	0
MSMB	4477	broad.mit.edu	37	10	51562352	51562352	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:51562352G>A	uc001jiq.3	+	3	329	c.297G>A	c.(295-297)gaG>gaA	p.E99E	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|MSMB_uc001jir.3_Missense_Mutation_p.R64K|NCOA4_uc009xon.3_5'Flank|NCOA4_uc010qhd.2_5'Flank|NCOA4_uc001jis.4_5'Flank|NCOA4_uc010qhe.2_5'Flank|NCOA4_uc010qhf.2_5'Flank	NM_002443	NP_002434	P08118	MSMB_HUMAN	Homo sapiens microseminoprotein, beta- (MSMB), transcript variant PSP94, mRNA.	99						extracellular space|nucleus				lung(4)|ovary(2)|prostate(1)	7						TCGTGGTGGAGAAGAAGGACC	0.463000														130			59		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227907816	227907816	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:227907816G>A	uc021vxr.1	-	34	3475	c.3374C>T	c.(3373-3375)tCc>tTc	p.S1125F	COL4A4_uc021vxs.1_Missense_Mutation_p.S1125F	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1125	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGTCCAGAGGAGCCAGGTGG	0.532000														44			22		0	0	1	0	0
WSB1	26118	broad.mit.edu	37	17	25630396	25630396	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr17:25630396C>T	uc002gzd.1	+	2	529	c.213C>T	c.(211-213)ctC>ctT	p.L71L	WSB1_uc010vzy.1_Silent_p.L71L|WSB1_uc010vzz.1_Silent_p.L40L|WSB1_uc010crf.1_Intron|WSB1_uc002gze.1_Intron|WSB1_uc002gzf.1_Non-coding_Transcript	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	Homo sapiens WD repeat and SOCS box containing 1 (WSB1), transcript variant 1, mRNA.	71					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		ACTCCAGTCTCTTGCATGGCA	0.368000														65			44		0	0	1	0	0
FGF3	2248	broad.mit.edu	37	11	69625098	69625098	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:69625098G>A	uc001oph.3	-	2	1186	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_005247	NP_005238	P11487	FGF3_HUMAN	Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.	232					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CTCCAGCTGGGAGCCCAGTCT	0.672000														11			4		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40357727	40357727	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:40357727C>T	uc002omp.4	-	33	15594	c.15586G>A	c.(15586-15588)Gag>Aag	p.E5196K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5196	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAACAGCGCTCGCTGCAGTCT	0.587000														38			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068061	9068061	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9068061C>T	uc002mkp.3	-	2	19589	c.19385G>A	c.(19384-19386)tGg>tAg	p.W6462*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6464	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						TGATGTGTCCCAGGTAAGGGT	0.483000														137			54		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458358	45458358	+	RNA	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:45458358G>A	uc001rol.3	-	0		c.837C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CTGCTGTTCAGGGTGGGGTCA	0.517000														24			11		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45303824	45303824	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:45303824C>T	uc003jok.3	-	5	1520	c.1495G>A	c.(1495-1497)Gga>Aga	p.G499R		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	499						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.G499L(2)|p.G499V(2)|p.G499R(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATATAATCTCCAGGTTGAAAC	0.408000														135			33		0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141955043	141955043	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr7:141955043G>A	uc003vxb.3	-	2	588	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	PRSS58_uc003vxc.4_Missense_Mutation_p.H90Y	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	90	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.H90L(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AAGTGTGGATGATGAATCATC	0.413000														104			34		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996466	140996466	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:140996466G>A	uc004fbt.3	+	3	3600	c.3276G>A	c.(3274-3276)aaG>aaA	p.K1092K	MAGEC1_uc010nsl.2_Silent_p.K159K|MAGEC1_uc022cfi.1_Silent_p.K751K	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1092	MAGE.						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)					CCATGCTAAAGAATACCGTCC	0.453000										HNSCC(15;0.026)				61			85		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29121164	29121164	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr18:29121164C>T	uc002kwu.4	+	12	2076	c.1888C>T	c.(1888-1890)Ctt>Ttt	p.L630F		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	630					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGTGGTACCACTTTTACTGCT	0.423000														74			25		0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230010	56230010	+	Silent	SNP	G	A	A	rs145474756	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:56230010G>A	uc010rjj.2	-	0	868	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TTATTTCTCAGACTGTAGATC	0.403000														96			37		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24373028	24373028	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:24373028G>A	uc002dmf.3	+	3	1994	c.792G>A	c.(790-792)atG>atA	p.M264I		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	264					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ACATCTCGATGTTCACCCTCT	0.587000														113			23		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	93225885	93225885	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:93225885C>T	uc011cdt.2	+	0	336	c.78C>T	c.(76-78)atC>atT	p.I26I	GRID2_uc010ikx.3_Silent_p.I26I|GRID2_uc011cdu.2_Silent_p.I26I	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	26					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.S25L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CGGATTCGATCATTCACATCG	0.502000														51			19		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575565	136575565	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:136575565C>T	uc002tuu.1	-	5	1064	c.1053G>A	c.(1051-1053)acG>acA	p.T351T		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	351	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGAGGAGTCCGTGGTCTCGT	0.542000														77			30		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46825081	46825081	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:46825081G>A	uc002peh.3	+	9	1224	c.1193G>A	c.(1192-1194)aGc>aAc	p.S398N	HIF3A_uc002peg.4_Missense_Mutation_p.S398N|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.S342N|HIF3A_uc002pej.2_Missense_Mutation_p.S329N|HIF3A_uc010xxy.2_Missense_Mutation_p.S329N|HIF3A_uc002pel.3_Missense_Mutation_p.S396N|HIF3A_uc010xxz.2_Missense_Mutation_p.S347N	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCTTCCCTGAGCGAGGCTGCC	0.682000														93			21		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111570421	111570421	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:111570421G>A	uc003kpv.1	-	11	1271	c.997C>T	c.(997-999)Ctt>Ttt	p.L333F		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	333						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)		TGAATAGAAAGATCTCGGCTC	0.443000														121			52		0	0	1	0	0
PLEKHA1	59338	broad.mit.edu	37	10	124189150	124189150	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:124189150C>T	uc001lge.2	+	11	1160	c.911C>T	c.(910-912)cCc>cTc	p.P304L	PLEKHA1_uc001lgf.2_3'UTR|PLEKHA1_uc001lgg.2_Missense_Mutation_p.P304L|PLEKHA1_uc021qae.1_5'Flank	NM_001001974	NP_067635	Q9HB21	PKHA1_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), transcript variant 2, mRNA.	304					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GAGCATCCCCCCGGTCCTTCA	0.507000														37			11		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111143688	111143688	+	Splice_Site	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:111143688G>A	uc001vqx.3	+	37	3743	c.3454_splice	c.e37+1	p.G1152_splice		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1152	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGACAAACAGGTAAAATCTCC	0.542000														4			3		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230894	21230894	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21230894G>A	uc002red.3	-	25	8974	c.8846C>T	c.(8845-8847)aCc>aTc	p.T2949I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2949					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.F2948F(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)	TCCTTCTATGGTGAAACTAAT	0.448000														177			54		0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70516049	70516049	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:70516049C>T	uc001joo.3	+	13	1764	c.1645C>T	c.(1645-1647)Cgc>Tgc	p.R549C	CCAR1_uc001jol.1_Intron|CCAR1_uc001jom.1_Missense_Mutation_p.R354C|CCAR1_uc009xpx.1_Missense_Mutation_p.R523C|CCAR1_uc001jon.1_Missense_Mutation_p.R495C|CCAR1_uc010qiz.1_Missense_Mutation_p.R534C|CCAR1_uc010qja.1_Missense_Mutation_p.R534C|CCAR1_uc010qjb.2_Intron	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	549					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	p.I548N(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TGCAGAGATTCGCTACCATCG	0.453000														57			31		0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104571689	104571689	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:104571689G>A	uc001yop.2	+	9	1160	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ASPG_uc001yoo.2_Missense_Mutation_p.E387K|ASPG_uc001yoq.2_Missense_Mutation_p.E359K|ASPG_uc001yor.2_Missense_Mutation_p.E359K	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	359					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	p.E359fs*2(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CCTTCGGGGGGAGATGACGCC	0.677000														32			5		0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117120290	117120290	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117120290G>A	uc004biq.3	-	10	2785	c.2650C>T	c.(2650-2652)Caa>Taa	p.Q884*	AKNA_uc004bin.3_Nonsense_Mutation_p.Q131*|AKNA_uc004bio.3_Nonsense_Mutation_p.Q344*|AKNA_uc004bip.3_Nonsense_Mutation_p.Q803*|AKNA_uc004bir.3_Nonsense_Mutation_p.Q884*|AKNA_uc004bis.3_Nonsense_Mutation_p.Q884*|AKNA_uc010mve.2_Nonsense_Mutation_p.Q765*	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						ATACTACTTTGGTGGGATGCT	0.647000														57			19		0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57843461	57843461	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:57843461G>A	uc001snv.1	+	1	842	c.715G>A	c.(715-717)Gac>Aac	p.D239N		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	239					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						ACGAGGCATCGACTGCCAAGG	0.587000														26			15		0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71152304	71152304	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:71152304C>T	uc001oqk.3	-	5	845	c.595G>A	c.(595-597)Ggc>Agc	p.G199S	DHCR7_uc001oql.3_Missense_Mutation_p.G199S	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	199					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	AAGAAGTAGCCCTTGACCATG	0.567000									Smith-Lemli-Opitz syndrome					63			21		0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110788861	110788861	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:110788861C>T	uc003hzx.4	+	1	712	c.519C>T	c.(517-519)gtC>gtT	p.V173V	LRIT3_uc003hzw.4_Silent_p.V35V	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	173	LRRCT.					integral to membrane		p.D173H(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TGTCAAAGGTCGTTGACCCTG	0.443000														78			26		0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9983625	9983625	+	Missense_Mutation	SNP	T	C	C			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:9983625T>C	uc001mib.2	-	15	1877	c.1739A>G	c.(1738-1740)aAa>aGa	p.K580R	SBF2_uc001mif.3_Missense_Mutation_p.K336R|SBF2_uc001mih.4_Missense_Mutation_p.K109R	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	580					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TGCCTTTCCTTTAAGGGCTCT	0.448000														62			28		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21236046	21236046	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:21236046G>A	uc002red.3	-	24	4330	c.4202C>T	c.(4201-4203)tCc>tTc	p.S1401F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1401					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACATTGTAGGAAAGCAGGTC	0.547000														107			51		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19746500	19746500	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:19746500G>A	uc002nnd.3	-	13	1475	c.1358C>T	c.(1357-1359)tCg>tTg	p.S453L	GMIP_uc010xrb.2_Intron|GMIP_uc010xrc.2_Intron	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	453					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCCTGTGGACGAAGCCTTCAC	0.597000														159			33		0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149753822	149753822	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:149753822C>T	uc003lry.3	+	7	1064	c.956C>T	c.(955-957)cCc>cTc	p.P319L	TCOF1_uc003lrw.3_Missense_Mutation_p.P319L|TCOF1_uc003lrz.3_Missense_Mutation_p.P319L|TCOF1_uc011dch.2_Missense_Mutation_p.P319L|TCOF1_uc003lrx.3_Missense_Mutation_p.P242L|TCOF1_uc003lsa.3_Missense_Mutation_p.P242L|TCOF1_uc011dci.1_5'Flank	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	319					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCCAGCACCCCCTGGGAAG	0.597000														13			4		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167056366	167056366	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:167056366G>A	uc010fpl.3	-	26	5091	c.4750C>T	c.(4750-4752)Cta>Tta	p.L1584L	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1595						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAATCAGCTAGAAACATACCT	0.378000														87			34		0	0	1	0	0
ANKRD26P3	100101938	broad.mit.edu	37	13	19868746	19868746	+	RNA	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr13:19868746C>T	uc010tck.2	-	12		c.1882G>A								Homo sapiens ankyrin repeat domain 26 pseudogene 3 (ANKRD26P3), non-coding RNA.																		GTCAGAATTTCATCTTGTAAT	0.373000														19			7		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165867	172165867	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:172165867C>T	uc003fib.2	-	0	380	c.337G>A	c.(337-339)Gac>Aac	p.D113N	GHSR_uc011bpv.2_Missense_Mutation_p.D113N	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	113					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAGAGGAGGTCGCCGAAGTTC	0.602000														33			13		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975383	20975383	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr16:20975383C>T	uc010vbe.2	-	52	9823	c.9823G>A	c.(9823-9825)Gag>Aag	p.E3275K	DNAH3_uc010vbd.2_Missense_Mutation_p.E710K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3275	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCTGTTTCTCTGAGATCTCT	0.478000														132			48		0	0	1	0	0
IGJ	3512	broad.mit.edu	37	4	71527857	71527857	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:71527857G>A	uc010ihz.3	-	2	329	c.188C>T	c.(187-189)tCt>tTt	p.S63F	IGJ_uc003hfn.4_Missense_Mutation_p.S47F	NM_144646	NP_653247	P01591	IGJ_HUMAN	Homo sapiens immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides (IGJ), mRNA.	47					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			ATCTTCGGAAGAACGGATGAT	0.388000														104			20		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469264	10469264	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:10469264C>T	uc003wtc.3	-	3	2573	c.2344G>A	c.(2344-2346)Gac>Aac	p.D782N		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	782					intracellular signal transduction			p.S781S(3)		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)		GAGCAGGAGTCGGATGTGTGG	0.667000														83			13		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231112699	231112699	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr2:231112699G>A	uc002vql.3	+	7	926	c.811G>A	c.(811-813)Gag>Aag	p.E271K	SP140_uc010zma.1_Intron|SP140_uc002vqk.2_Missense_Mutation_p.E271K|SP140_uc002vqn.3_Intron|SP140_uc002vqm.3_Missense_Mutation_p.E245K|SP140_uc010fxl.3_Missense_Mutation_p.E271K	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	271					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAACAGGGAGAGGAGGAAGG	0.488000														121			23		0	0	1	0	0
LCN12	286256	broad.mit.edu	37	9	139847361	139847361	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139847361C>T	uc004ckc.3	+	1	140	c.132C>T	c.(130-132)ttC>ttT	p.F44F	LCN12_uc022bpx.1_Silent_p.F44F|LCN12_uc004ckb.3_Silent_p.F44F			Q6JVE5	LCN12_HUMAN	Homo sapiens lipocalin 12 (LCN12), mRNA.	44					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGGAATGGTTCGTCCTGGGCC	0.672000														130			61		0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47692738	47692738	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:47692738G>A	uc002zir.1	-	7	2238	c.2202C>T	c.(2200-2202)atC>atT	p.I734I		NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	734					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GCTGCTGCGTGATATCCTGGC	0.547000														56			27		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113146034	113146034	+	Silent	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:113146034G>A	uc021qqp.1	+	19	2940	c.2568G>A	c.(2566-2568)acG>acA	p.T856T	NCAM1_uc001pnq.3_Silent_p.T830T|NCAM1_uc001pnr.3_Silent_p.T820T|NCAM1_uc001pns.3_3'UTR|LOC100288346_uc021qqr.1_5'Flank|NCAM1_uc001pnt.3_Silent_p.T69T	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	834				S -> N (in Ref. 6; AAH47244).	axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGACAGAAACGAAGCCAGCGC	0.547000														26			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062169	9062169	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9062169C>T	uc002mkp.3	-	2	25481	c.25277G>A	c.(25276-25278)aGg>aAg	p.R8426K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8428	Ser-rich.|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						TGAGCTGATCCTCTCAGAGCT	0.507000														70			39		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40945418	40945418	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:40945418C>T	uc003jmh.3	+	6	800	c.686C>T	c.(685-687)tCa>tTa	p.S229L	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	229	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGATCTTCATCATCTTCTTCA	0.313000														25			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047864	9047864	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:9047864G>A	uc002mkp.3	-	4	33971	c.33767C>T	c.(33766-33768)tCc>tTc	p.S11256F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11258	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						CTCACCAGTGGAGACAGTCAA	0.468000														22			3		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057714	63057714	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:63057714C>T	uc009yor.3	+	0	285	c.77C>T	c.(76-78)cCc>cTc	p.P26L	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Intron|SLC22A10_uc010rmp.1_5'Flank	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	26						integral to membrane	transmembrane transporter activity	p.P26P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTATTCTTCCCTCTCTCATG	0.458000														49			26		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145442113	145442113	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr5:145442113C>T	uc003lnt.3	+	9	2277	c.2039C>T	c.(2038-2040)tCc>tTc	p.S680F	SH3RF2_uc011dbl.1_Missense_Mutation_p.S680F|SH3RF2_uc003lnu.3_Missense_Mutation_p.S171F|SH3RF2_uc011dbn.1_Missense_Mutation_p.S171F|SH3RF2_uc011dbo.2_Missense_Mutation_p.S137F	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	680							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)			GAAGCAGCGTCCTTGGGCCCA	0.597000														78			8		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34102044	34102044	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:34102044C>T	uc001bxm.1	-	29	5062	c.4885G>A	c.(4885-4887)Gaa>Aaa	p.E1629K	CSMD2_uc001bxn.1_Missense_Mutation_p.E1589K|CSMD2_uc001bxo.1_Missense_Mutation_p.E502K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1589	CUB 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCTCAACTTCGTAGCCCCCG	0.622000														29			12		0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79629625	79629625	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr8:79629625C>T	uc003ybd.3	+	8	977	c.875C>T	c.(874-876)tCa>tTa	p.S292L		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	Homo sapiens family with sequence similarity 164, member A (FAM164A), mRNA.	292																	GAAGGACATTCACCTGGAAAC	0.383000														123			47		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717018	142717018	+	Missense_Mutation	SNP	A	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:142717018A>G	uc022cfm.1	-	0	1907	c.1907T>C	c.(1906-1908)tTt>tCt	p.F636S	SLITRK4_uc022cfl.1_Missense_Mutation_p.F636S|SLITRK4_uc004fbx.3_Missense_Mutation_p.F636S|SLITRK4_uc004fby.3_Missense_Mutation_p.F636S	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	636						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAAGGCAAAAAGCAACAAA	0.493000														34			40		0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100504621	100504621	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:100504621G>A	uc011cej.2	+	2	434	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	MTTP_uc003hvc.4_Missense_Mutation_p.E114K|MTTP_uc003hvb.3_Missense_Mutation_p.E114K	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	114	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AATGGGAAAGGAAAACTTGGA	0.393000														100			39		0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47938716	47938716	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr4:47938716C>T	uc003gxu.3	-	9	2143	c.2002G>A	c.(2002-2004)Ggg>Agg	p.G668R	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.G599R	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	599					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						ATCTGCTTCCCTTTCTCTTCC	0.418000														197			64		0	0	1	0	0
POTEB	339010	broad.mit.edu	37	15	22062320	22062320	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:22062320G>A	uc010tzr.1	-	10	1661	c.1294C>T	c.(1294-1296)Cac>Tac	p.H432Y	POTEB_uc010tzq.1_Non-coding_Transcript	NM_207355	NP_997238	Q6S5H4	POTEB_HUMAN	Homo sapiens POTE ankyrin domain family, member B (POTEB), mRNA.	469										endometrium(2)|kidney(8)|lung(4)	14						GCTCACCTGTGATACTCTTCA	0.373000														32			36		0	0	1	0	0
SMAD6	4091	broad.mit.edu	37	15	67073803	67073803	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:67073803C>T	uc002aqf.3	+	3	2344	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L	SMAD6_uc010bhx.3_Non-coding_Transcript|SMAD6_uc002aqg.3_Missense_Mutation_p.P213L	NM_005585	NP_005576	O43541	SMAD6_HUMAN	Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1, mRNA.	474	MH2.				BMP signaling pathway|immune response|negative regulation of BMP signaling pathway|negative regulation of SMAD protein complex assembly|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	I-SMAD binding|R-SMAD binding|co-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						GGCTGGGGGCCCTGCTACTCC	0.716000														32			7		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14823176	14823176	+	Silent	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:14823176C>T	uc003zlm.3	-	13	3135	c.2319G>A	c.(2317-2319)gtG>gtA	p.V773V	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	773					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTGATTGTCCACTGGGAGGA	0.413000														56			7		0	0	1	0	0
ASB11	140456	broad.mit.edu	37	X	15307707	15307707	+	Missense_Mutation	SNP	C	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chrX:15307707C>T	uc004cwp.2	-	4	593	c.574G>A	c.(574-576)Gag>Aag	p.E192K	ASB11_uc004cwo.2_Missense_Mutation_p.E171K|ASB11_uc010net.2_Missense_Mutation_p.E175K|ASB11_uc010nes.2_Non-coding_Transcript	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 11 (ASB11), transcript variant 1, mRNA.	192					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					TGAGGCACCTCATGGTCAATG	0.433000														74			100		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31743776	31743776	+	Missense_Mutation	SNP	G	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr6:31743776G>A	uc011dog.2	-	2	716	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	VWA7_uc003nxd.2_Intron|VWA7_uc011doh.1_Non-coding_Transcript	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	160						extracellular region											AGGCGCTGGCGAGCCAGGGTG	0.667000														116			61		0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24671417	24671417	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:24671417delA	uc021oiw.1	+	11	1680	c.1450delA	c.(1450-1452)aacfs	p.N484fs	GRHL3_uc001bix.3_Frame_Shift_Del_p.N484fs|GRHL3_uc021oix.1_Frame_Shift_Del_p.N438fs|GRHL3_uc001biy.3_Frame_Shift_Del_p.N489fs|GRHL3_uc001biz.3_Frame_Shift_Del_p.N391fs	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	484					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CAGCAGCTCCAACAGGTATGG	0.607													---	54	---	---	27	---					
FLG	2312	broad.mit.edu	37	1	152286683	152286684	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr1:152286683_152286684insT	uc001ezu.1	-	2	714_715	c.678_679insA	c.(676-681)aaatggfs	p.K226fs	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	226					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.W227C(1)|p.K226E(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTATCCATTTTTGAGTCA	0.347									Ichthyosis				---	108	---	---	31	---					
OR5H15	403274	broad.mit.edu	37	3	97887844	97887844	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:97887844delT	uc011bgu.2	+	0	301	c.301delT	c.(301-303)tttfs	p.F101fs		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q100Q(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CAAGATACAATTTTTTTCCAT	0.383													---	317	---	---	9	---					
RASA2	5922	broad.mit.edu	37	3	141248562	141248562	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr3:141248562delT	uc010huq.1	+	3	368	c.368delT	c.(367-369)atcfs	p.I123fs	RASA2_uc003etz.1_Frame_Shift_Del_p.I123fs|RASA2_uc003eua.1_Frame_Shift_Del_p.I123fs|RASA2_uc011bnc.1_5'UTR	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	123					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding	p.I123M(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AAAGTAGCCATCAAAAAAGAA	0.313													---	103	---	---	45	---					
ENTPD2	954	broad.mit.edu	37	9	139946772	139946781	+	Frame_Shift_Del	DEL	GAAGAACCAG	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr9:139946772_139946781delGAAGAACCAG	uc004ckw.2	-	1	191_200	c.137_146delCTGGTTCTTC	c.(136-147)gctggttcttcafs	p.A46fs	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Frame_Shift_Del_p.A46fs	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	46						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGACGTGTGTGAAGAACCAGCGTCCAGGAC	0.605													---	135	---	---	11	---					
GTPBP4	23560	broad.mit.edu	37	10	1063100	1063100	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:1063100delT	uc001ift.3	+	16	1909	c.1838delT	c.(1837-1839)gtgfs	p.V613fs	GTPBP4_uc010qad.2_Frame_Shift_Del_p.V497fs|GTPBP4_uc010qae.2_Frame_Shift_Del_p.V566fs	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	613					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GATAGACACGTGTTTGATATG	0.473													---	107	---	---	46	---					
STOX1	219736	broad.mit.edu	37	10	70645617	70645628	+	In_Frame_Del	DEL	AAAGACTCAGAA	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr10:70645617_70645628delAAAGACTCAGAA	uc001jos.2	+	2	2152_2163	c.2065_2076delAAAGACTCAGAA	c.(2065-2076)aaagactcagaadel	p.KDSE689del	STOX1_uc001joq.3_In_Frame_Del_p.KDSE579del|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_In_Frame_Del_p.KDSE579del	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	689						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AAGACAAGACAAAGACTCAGAAGAATTATTGA	0.406													---	209	---	---	18	---					
TBC1D10C	374403	broad.mit.edu	37	11	67177148	67177149	+	Frame_Shift_Ins	INS	-	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr11:67177148_67177149insG	uc001ola.3	+	9	1293_1294	c.1264_1265insG	c.(1264-1266)cggfs	p.R422fs	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_3'UTR|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	422	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCTCCTGACTCGGGCCCGGGGC	0.698													---	29	---	---	8	---					
SP1	6667	broad.mit.edu	37	12	53776654	53776666	+	Frame_Shift_Del	DEL	CCAGCTTGGTATC	-	-	rs139480666	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:53776654_53776666delCCAGCTTGGTATC	uc001scw.3	+	2	1020_1032	c.923_935delCCAGCTTGGTATC	c.(922-936)gccagcttggtatcafs	p.A308fs	SP1_uc021qyf.1_Frame_Shift_Del_p.A260fs|SP1_uc010sog.2_Frame_Shift_Del_p.A301fs	NM_138473	NP_612482	P08047	SP1_HUMAN	Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.	308	Ser/Thr-rich.|Transactivation domain B (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ATCAGTTCTGCCAGCTTGGTATCATCACAAGCC	0.512													---	158	---	---	13	---					
CCDC38	120935	broad.mit.edu	37	12	96282260	96282260	+	Frame_Shift_Del	DEL	C	-	-	rs146332701		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:96282260delC	uc001tek.2	-	9	1130	c.896delG	c.(895-897)cgcfs	p.R299fs		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	299										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCTGGAGTGCGAGTCAGGCT	0.403													---	175	---	---	96	---					
NR1H4	9971	broad.mit.edu	37	12	100904848	100904852	+	Frame_Shift_Del	DEL	TGAGC	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr12:100904848_100904852delTGAGC	uc001tht.2	+	1	430_434	c.402_406delTGAGC	c.(400-408)gatgagctgfs	p.D134fs	NR1H4_uc001thq.2_Frame_Shift_Del_p.D124fs|NR1H4_uc001thp.2_Frame_Shift_Del_p.D124fs|NR1H4_uc001thr.2_Frame_Shift_Del_p.D124fs|NR1H4_uc010svk.2_Frame_Shift_Del_p.D124fs|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Frame_Shift_Del_p.D134fs	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	134					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.E125*(1)|p.D134E(1)|p.D124E(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TCAAAGGGGATGAGCTGTGTGTTGT	0.512													---	126	---	---	44	---					
D21847	0	broad.mit.edu	37	14	22090554	22090555	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:22090554_22090555insA	uc001wbi.2	+	1	206_207	c.193_194insA	c.(193-195)caafs	p.Q65fs						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 133.																		CTGGTACCAGCAACATGATGGC	0.485													---	180	---	---	68	---					
BTBD7	55727	broad.mit.edu	37	14	93761192	93761193	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr14:93761192_93761193insT	uc001ybo.3	-	2	499_500	c.173_174insA	c.(172-174)aagfs	p.K58fs	BTBD7_uc010aur.3_5'UTR|BTBD7_uc010two.2_5'UTR|BTBD7_uc001ybp.3_Intron|BTBD7_uc001ybq.4_5'UTR|BTBD7_uc001ybr.3_Frame_Shift_Ins_p.K58fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	58								p.K58fs*44(3)|p.R59fs*14(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CAGAGGTTCTCTTTTTTTTGTC	0.441													---	320	---	---	7	---					
RYR3	6263	broad.mit.edu	37	15	33855092	33855092	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr15:33855092delG	uc001zhi.3	+	10	1097	c.1027delG	c.(1027-1029)gttfs	p.V343fs	RYR3_uc010bar.3_Frame_Shift_Del_p.V343fs	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	343	MIR 5.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G342*(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGCATGGGAGTTCCAGAAAT	0.433													---	55	---	---	27	---					
CCDC114	93233	broad.mit.edu	37	19	48800553	48800553	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:48800553delG	uc002pir.2	-	13	2376	c.1693delC	c.(1693-1695)ctcfs	p.L565fs	CCDC114_uc002piq.2_Frame_Shift_Del_p.L374fs|CCDC114_uc002pio.3_3'UTR	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	565										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CTGGAGCTGAGGCCGCCAAAA	0.642													---	47	---	---	15	---					
KLK12	43849	broad.mit.edu	37	19	51535204	51535204	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr19:51535204delG	uc002pvh.1	-	3	502	c.385delC	c.(385-387)ctgfs	p.L129fs	KLK12_uc002pvg.1_Frame_Shift_Del_p.L129fs|KLK12_uc010ycp.1_Non-coding_Transcript|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvi.1_Frame_Shift_Del_p.L129fs|KLK12_uc002pvj.1_Intron	NM_019598	NP_062544	Q9UKR0	KLK12_HUMAN	Homo sapiens kallikrein-related peptidase 12 (KLK12), transcript variant 1, mRNA.	129	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)		TCATTGGGCAGGGGCAGGGGT	0.697													---	87	---	---	13	---					
DSCAM	1826	broad.mit.edu	37	21	41427714	41427714	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	3954c345-d993-4edd-a917-fcef21e3a3b8	g.chr21:41427714delA	uc002yyq.1	-	28	5425	c.4973delT	c.(4972-4974)atgfs	p.M1658fs	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1658					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTCGATGTGCATTCGCAGGGT	0.453													---	165	---	---	77	---					
GRHL3	57822	broad.mit.edu	37	1	24671417	24671417	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:24671417delA	uc021oiw.1	+	11	1680	c.1450delA	c.(1450-1452)aacfs	p.N484fs	GRHL3_uc001bix.3_Frame_Shift_Del_p.N484fs|GRHL3_uc021oix.1_Frame_Shift_Del_p.N438fs|GRHL3_uc001biy.3_Frame_Shift_Del_p.N489fs|GRHL3_uc001biz.3_Frame_Shift_Del_p.N391fs	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	484					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CAGCAGCTCCAACAGGTATGG	0.607													---	54	---	---	27	---					
FLG	2312	broad.mit.edu	37	1	152286683	152286684	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr1:152286683_152286684insT	uc001ezu.1	-	2	714_715	c.678_679insA	c.(676-681)aaatggfs	p.K226fs	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	226					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.W227C(1)|p.K226E(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTATCCATTTTTGAGTCA	0.347									Ichthyosis				---	108	---	---	31	---					
RASA2	5922	broad.mit.edu	37	3	141248562	141248562	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr3:141248562delT	uc010huq.1	+	3	368	c.368delT	c.(367-369)atcfs	p.I123fs	RASA2_uc003etz.1_Frame_Shift_Del_p.I123fs|RASA2_uc003eua.1_Frame_Shift_Del_p.I123fs|RASA2_uc011bnc.1_5'UTR	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	123					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding	p.I123M(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AAAGTAGCCATCAAAAAAGAA	0.313													---	103	---	---	45	---					
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:117406_117407insG	uc003zfz.3	-	0	1011_1012	c.713_714insC	c.(712-714)ccgfs	p.P238fs		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	238	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA 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			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743													---	87	---	---	8	---					
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	RNA	DEL	G	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:41962602delG	uc004aca.4	-	2		c.907delC								Homo sapiens keratinocyte growth factor-like protein 2 (KGFLP2), non-coding RNA.																		TTCTTTCTTTGTTTTTTTTCC	0.373													---	101	---	---	8	---					
ENTPD2	954	broad.mit.edu	37	9	139946772	139946781	+	Frame_Shift_Del	DEL	GAAGAACCAG	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr9:139946772_139946781delGAAGAACCAG	uc004ckw.2	-	1	191_200	c.137_146delCTGGTTCTTC	c.(136-147)gctggttcttcafs	p.A46fs	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Frame_Shift_Del_p.A46fs	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	46						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGACGTGTGTGAAGAACCAGCGTCCAGGAC	0.605													---	135	---	---	11	---					
GTPBP4	23560	broad.mit.edu	37	10	1063100	1063100	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:1063100delT	uc001ift.3	+	16	1909	c.1838delT	c.(1837-1839)gtgfs	p.V613fs	GTPBP4_uc010qad.2_Frame_Shift_Del_p.V497fs|GTPBP4_uc010qae.2_Frame_Shift_Del_p.V566fs	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	613					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GATAGACACGTGTTTGATATG	0.473													---	107	---	---	46	---					
STOX1	219736	broad.mit.edu	37	10	70645617	70645628	+	In_Frame_Del	DEL	AAAGACTCAGAA	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr10:70645617_70645628delAAAGACTCAGAA	uc001jos.2	+	2	2152_2163	c.2065_2076delAAAGACTCAGAA	c.(2065-2076)aaagactcagaadel	p.KDSE689del	STOX1_uc001joq.3_In_Frame_Del_p.KDSE579del|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_In_Frame_Del_p.KDSE579del	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	689						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AAGACAAGACAAAGACTCAGAAGAATTATTGA	0.406													---	209	---	---	18	---					
TBC1D10C	374403	broad.mit.edu	37	11	67177148	67177149	+	Frame_Shift_Ins	INS	-	G	G			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr11:67177148_67177149insG	uc001ola.3	+	9	1293_1294	c.1264_1265insG	c.(1264-1266)cggfs	p.R422fs	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_3'UTR|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	422	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCTCCTGACTCGGGCCCGGGGC	0.698													---	29	---	---	8	---					
SP1	6667	broad.mit.edu	37	12	53776654	53776666	+	Frame_Shift_Del	DEL	CCAGCTTGGTATC	-	-	rs139480666	byFrequency	TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:53776654_53776666delCCAGCTTGGTATC	uc001scw.3	+	2	1020_1032	c.923_935delCCAGCTTGGTATC	c.(922-936)gccagcttggtatcafs	p.A308fs	SP1_uc021qyf.1_Frame_Shift_Del_p.A260fs|SP1_uc010sog.2_Frame_Shift_Del_p.A301fs	NM_138473	NP_612482	P08047	SP1_HUMAN	Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.	308	Ser/Thr-rich.|Transactivation domain B (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ATCAGTTCTGCCAGCTTGGTATCATCACAAGCC	0.512													---	158	---	---	13	---					
CCDC38	120935	broad.mit.edu	37	12	96282260	96282260	+	Frame_Shift_Del	DEL	C	-	-	rs146332701		TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:96282260delC	uc001tek.2	-	9	1130	c.896delG	c.(895-897)cgcfs	p.R299fs		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	299										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCTGGAGTGCGAGTCAGGCT	0.403													---	175	---	---	96	---					
NR1H4	9971	broad.mit.edu	37	12	100904848	100904852	+	Frame_Shift_Del	DEL	TGAGC	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:100904848_100904852delTGAGC	uc001tht.2	+	1	430_434	c.402_406delTGAGC	c.(400-408)gatgagctgfs	p.D134fs	NR1H4_uc001thq.2_Frame_Shift_Del_p.D124fs|NR1H4_uc001thp.2_Frame_Shift_Del_p.D124fs|NR1H4_uc001thr.2_Frame_Shift_Del_p.D124fs|NR1H4_uc010svk.2_Frame_Shift_Del_p.D124fs|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Frame_Shift_Del_p.D134fs	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	134					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.E125*(1)|p.D134E(1)|p.D124E(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TCAAAGGGGATGAGCTGTGTGTTGT	0.512													---	126	---	---	44	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr12:122812690_122812691insT	uc001ucg.2	-	16	3207_3208	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_uc001uch.1_Frame_Shift_Ins_p.S1007fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.S972fs|CLIP1_uc001ucj.1_Frame_Shift_Ins_p.S593fs	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													---	220	---	---	11	---					
D21847	0	broad.mit.edu	37	14	22090554	22090555	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:22090554_22090555insA	uc001wbi.2	+	1	206_207	c.193_194insA	c.(193-195)caafs	p.Q65fs						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 133.																		CTGGTACCAGCAACATGATGGC	0.485													---	180	---	---	68	---					
BTBD7	55727	broad.mit.edu	37	14	93761192	93761193	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr14:93761192_93761193insT	uc001ybo.3	-	2	499_500	c.173_174insA	c.(172-174)aagfs	p.K58fs	BTBD7_uc010aur.3_5'UTR|BTBD7_uc010two.2_5'UTR|BTBD7_uc001ybp.3_Intron|BTBD7_uc001ybq.4_5'UTR|BTBD7_uc001ybr.3_Frame_Shift_Ins_p.K58fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	58								p.K58fs*44(3)|p.R59fs*14(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CAGAGGTTCTCTTTTTTTTGTC	0.441													---	320	---	---	7	---					
RYR3	6263	broad.mit.edu	37	15	33855092	33855092	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr15:33855092delG	uc001zhi.3	+	10	1097	c.1027delG	c.(1027-1029)gttfs	p.V343fs	RYR3_uc010bar.3_Frame_Shift_Del_p.V343fs	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	343	MIR 5.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G342*(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGCATGGGAGTTCCAGAAAT	0.433													---	55	---	---	27	---					
CCDC114	93233	broad.mit.edu	37	19	48800553	48800553	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:48800553delG	uc002pir.2	-	13	2376	c.1693delC	c.(1693-1695)ctcfs	p.L565fs	CCDC114_uc002piq.2_Frame_Shift_Del_p.L374fs|CCDC114_uc002pio.3_3'UTR	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	565										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CTGGAGCTGAGGCCGCCAAAA	0.642													---	47	---	---	15	---					
KLK12	43849	broad.mit.edu	37	19	51535204	51535204	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr19:51535204delG	uc002pvh.1	-	3	502	c.385delC	c.(385-387)ctgfs	p.L129fs	KLK12_uc002pvg.1_Frame_Shift_Del_p.L129fs|KLK12_uc010ycp.1_Non-coding_Transcript|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvi.1_Frame_Shift_Del_p.L129fs|KLK12_uc002pvj.1_Intron	NM_019598	NP_062544	Q9UKR0	KLK12_HUMAN	Homo sapiens kallikrein-related peptidase 12 (KLK12), transcript variant 1, mRNA.	129	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)		TCATTGGGCAGGGGCAGGGGT	0.697													---	87	---	---	13	---					
DSCAM	1826	broad.mit.edu	37	21	41427714	41427714	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FW-A3R5-06A-11D-A23B-08	TCGA-FW-A3R5-11A-11D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbe8943-60cd-4c58-b502-91f50f33f7d6	4e26c9db-ec8a-4d88-9f74-a45db7287a39	g.chr21:41427714delA	uc002yyq.1	-	28	5425	c.4973delT	c.(4972-4974)atgfs	p.M1658fs	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1658					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTCGATGTGCATTCGCAGGGT	0.453													---	165	---	---	77	---					
